id ensembl_id sub_id chr start end strand intron1_len exon_len intron2_len ref_allele alt_allele snp_position vcf_id rel_position sequence start_hg38_0based end_hg38_0based snp_position_hg38_0based_start snp_position_hg38_1based snp_position_hg38_0based_end label rel_position_feature rel_position_scaled original_seq natural_seq category v1_R1_sum v1_R2_sum v1_index_R1 v1_index_R2 v1_index v2_R1_sum v2_R2_sum v2_index_R1 v2_index_R2 v2_index nat_v1_index_R1 nat_v1_index_R2 nat_v2_index_R1 nat_v2_index_R2 v1_dpsi_R1 v1_dpsi_R2 v2_dpsi_R1 v2_dpsi_R2 nat_v1_index nat_v2_index v1_dpsi v2_dpsi delta_dpsi strong_lof strong_lof_v1 mean_phastCons_score phylop_score snp_id annot impact symbol symbol_source HGNC_ID ensembl_feature_id exon_number intron_number Existing_variation allele_num SIFT PolyPhen GMAF AFR_MAF AMR_MAF ASN_MAF EAS_MAF EUR_MAF SAS_MAF AA_MAF EA_MAF LoF context ancestral AF location external_gene_name external_gene_source gene_biotype gene_length ensembl_gene_id exon_id_new consequence cadd_score fathmm_noncoding_score fathmm_coding_score fitCons_score dann_score linsight_score pLI pLI_high AF_gnomad ENSE00000658029_002 ENSE00000658029 002 14 58730366 58730535 + 57 66 47 T C 58730380 467 15 TTAATTACATATGACAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263661 58263662 58263662 upstr_intron -43 -0.736842105263158 TTAATTACATATGACAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 1816 245 0.967909372731878 1 0.983954686365939 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.0657834412076002 0.0253047817807782 0.91612372343678 0.93841057487175 NA 0.0455441114941892 NA FALSE NA 0.007 -0.012 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA ATA T,C 8.253e-06 14:58263662 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 non_coding_transcript_exon_variant 0.432768 0.26244 0.22192 0.256867 0.786062458545218 0.088125 0.99028192222966 TRUE 4.24171e-06 ENSE00000658029_005 ENSE00000658029 005 14 58730366 58730535 + 57 66 47 A C 58730403 470 38 TTAATTACATATGATAGTGTACTAATTCAGTGATTATCTATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263684 58263685 58263685 upstr_intron -20 -0.333333333333333 TTAATTACATATGATAGTGTACTAATTCAGTGATTATCTATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 709 793 1 0.994583691929373 0.997291845964687 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.097874068475722 0.0198884737101515 0.91612372343678 0.93841057487175 NA 0.0588812710929367 NA FALSE NA 0.001 -4.021 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA TAT A,C 8.248e-06 14:58263685 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 non_coding_transcript_exon_variant 0.198264 0.14336 0.08525 0.256867 0.648297478289178 0.088125 0.99028192222966 TRUE 4.13319e-06 ENSE00000658029_006 ENSE00000658029 006 14 58730366 58730535 + 57 66 47 A G 58730405 471 40 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATGTATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263686 58263687 58263687 upstr_intron -18 -0.298245614035088 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATGTATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 271 166 0.98938403030855 1 0.994692015154275 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.0872580987842723 0.0253047817807782 0.91612372343678 0.93841057487175 NA 0.0562814402825252 NA FALSE NA 0 -2.718 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA TAT A,G 1.649e-05 14:58263687 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 non_coding_transcript_exon_variant 0.627504 0.19452 0.02248 0.256867 0.643991854590061 0.088125 0.99028192222966 TRUE 2.89165e-05 ENSE00000658029_009 ENSE00000658029 009 14 58730366 58730535 + 57 66 47 T A 58730409 474 44 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATATTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263690 58263691 58263691 upstr_intron -14 -0.228070175438596 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATATTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 38 287 0.972104009982946 0.980336296013045 0.976220152997996 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.0699780784586683 0.00564107779382361 0.91612372343678 0.93841057487175 NA 0.037809578126246 NA FALSE NA 0 0.101 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA TTT T,A 1.649e-05 14:58263691 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 non_coding_transcript_exon_variant 1.051061 0.25896 0.14995 0.256867 0.742737258196616 0.183193 0.99028192222966 TRUE 1.65147e-05 ENSE00000658029_011 ENSE00000658029 011 14 58730366 58730535 + 57 66 47 T C 58730420 476 55 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAACAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263701 58263702 58263702 upstr_intron -3 -0.0350877192982456 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAACAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 964 430 0.994065218205026 0.998199262928076 0.996132240566551 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.0919392866807477 0.023504044708854 0.91612372343678 0.93841057487175 NA 0.0577216656948009 NA FALSE NA 0.219 0.063 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA ATA T,C 1.648e-05 14:58263702 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 splice_region_variant 1.585772 0.82233 0.0698 0.256867 0.813166473665857 0.301662 0.99028192222966 TRUE 4.11316e-06 ENSE00000658029_012 ENSE00000658029 012 14 58730366 58730535 + 57 66 47 T C 58730428 477 63 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTACTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263709 58263710 58263710 exon 6 0.0909090909090909 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTACTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 395 336 1 1 1 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.097874068475722 0.0253047817807782 0.91612372343678 0.93841057487175 NA 0.0615894251282501 NA FALSE NA 0.987 0.161 rs149394834 downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 rs149394834 1 NA C:0 C:0.0001 ATT T,C 8.238e-06 14:58263710 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 synonymous_variant -0.366915 0.90807 0.67306 0.706548 0.788212747784315 0 0.99028192222966 TRUE 8.2056e-06 ENSE00000658029_015 ENSE00000658029 015 14 58730366 58730535 + 57 66 47 T C 58730442 480 77 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCACCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263723 58263724 58263724 exon 20 0.303030303030303 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCACCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 878 425 0.626896288179568 0.428787737873113 0.527842013026341 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA -0.27522964334471 -0.545907480346109 0.91612372343678 0.93841057487175 NA -0.410568561845409 NA FALSE NA 1 7.262 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA ATC T,C 8.237e-06 14:58263724 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 missense_variant 2.563132 0.959 0.95184 0.706548 0.910926081870363 0 0.99028192222966 TRUE 4.09631e-06 ENSE00000658029_016 ENSE00000658029 016 14 58730366 58730535 + 57 66 47 C T 58730443 481 78 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATTGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263724 58263725 58263725 exon 21 0.318181818181818 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATTGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 51 506 0.95 0.900287505182223 0.925143752591111 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.047874068475722 -0.0744077130369991 0.91612372343678 0.93841057487175 NA -0.0132668222806386 NA FALSE NA 1 1.205 rs189216032 downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 rs189216032 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 TCG T,T 7.414e-05 14:58263725 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 synonymous_variant 2.801708 0.85762 0.28208 0.706548 0.899233041928894 0 0.99028192222966 TRUE 7.78312e-05 ENSE00000658029_018 ENSE00000658029 018 14 58730366 58730535 + 57 66 47 A G 58730458 483 93 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAGGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263739 58263740 58263740 exon -31 0.545454545454545 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAGGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 340 61 0.892045696797558 1 0.946022848398779 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA -0.01008023472672 0.0253047817807782 0.91612372343678 0.93841057487175 NA 0.00761227352702909 NA FALSE NA 1 1.64 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA AAG A,G 2.471e-05 14:58263740 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 synonymous_variant 0.824446 0.90978 0.74692 0.706548 0.857826086327998 0 0.99028192222966 TRUE 1.63645e-05 ENSE00000658029_024 ENSE00000658029 024 14 58730366 58730535 + 57 66 47 C T 58730520 489 155 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTTGTCATCCTAATGCAG 58263647 58263817 58263801 58263802 58263802 downstr_intron 32 1.69565217391304 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTTGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 20 143 1 1 1 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.097874068475722 0.0253047817807782 0.91612372343678 0.93841057487175 NA 0.0615894251282501 NA FALSE NA 0 -0.302 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA TCG C,T 5.766e-05 14:58263802 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 intron_variant -0.037889 0.17037 0.03984 0.069865 0.634256011105257 0.0817598 0.99028192222966 TRUE 6.14195e-05 ENSE00000658029_025 ENSE00000658029 025 14 58730366 58730535 + 57 66 47 G A 58730521 490 156 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCATCATCCTAATGCAG 58263647 58263817 58263802 58263803 58263803 downstr_intron 33 1.71739130434783 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCATCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 1503 719 1 0.912387155771782 0.956193577885891 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.097874068475722 -0.0623080624474402 0.91612372343678 0.93841057487175 NA 0.0177830030141409 NA FALSE NA 0 -0.215 rs143649517 downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 rs143649517 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 3.295e-05 14:58263803 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 intron_variant -0.11211 0.11316 0.00717 0.069865 0.547210629050646 0.0483959 0.99028192222966 TRUE 2.0478e-05 ENSE00000658029_026 ENSE00000658029 026 14 58730366 58730535 + 57 66 47 T C 58730525 491 160 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCACCCTAATGCAG 58263647 58263817 58263806 58263807 58263807 downstr_intron 37 1.80434782608696 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCACCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 69 1288 1 0.997953084233793 0.998976542116897 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA 0.097874068475722 0.0232578660145712 0.91612372343678 0.93841057487175 NA 0.0605659672451466 NA FALSE NA 0 0.972 . downstream_gene_variant MODIFIER RP11-349A22.5 Clone_based_vega_gene NA ENST00000555275 1 NA ATC T,C 8.237e-06 14:58263807 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 intron_variant 0.070242 0.19908 0.10431 0.069865 0.447579700337913 0.0483959 0.99028192222966 TRUE 4.10992e-06 ENSE00000835661_001 ENSE00000835661 001 1 52257993 52258162 - 56 48 66 G C 52258009 1897 154 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCGTGACCCACTATGAGGC 51792320 51792490 51792336 51792337 51792337 downstr_intron 40 1.72727272727273 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCGTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC mutant NA NA NA NA NA 164 78 0.968443556314979 0.987927864979293 0.978185710647136 0.85 0.918181365153329 0.829224013522643 0.977337440850611 NA NA 0.139219542792336 0.0105904241286818 0.884090682576665 0.903280727186627 NA 0.0749049834605087 NA FALSE NA 0 0.022 . upstream_gene_variant MODIFIER RP4-657D16.3 Clone_based_vega_gene NA ENST00000588291 1 NA AGG G,C 8.237e-06 1:51792337 NRDC HGNC Symbol protein_coding 89746 ENSG00000078618 ENSE00003594065 intron_variant 0.155319 0.22076 0.35621 0.256867 0.624410414998965 0.124768 NA NA 4.06788e-06 ENSE00000835661_005 ENSE00000835661 005 1 52257993 52258162 - 56 48 66 C T 52258067 1901 96 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACACTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC 51792320 51792490 51792394 51792395 51792395 exon -19 0.625 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACACTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC mutant NA NA NA NA NA 261 292 0.963096028565295 0.949466378258539 0.956281203411917 0.85 0.918181365153329 0.829224013522643 0.977337440850611 NA NA 0.133872015042652 -0.0278710625920726 0.884090682576665 0.903280727186627 NA 0.0530004762252896 NA FALSE NA 0.078 -0.769 . upstream_gene_variant MODIFIER RP4-657D16.3 Clone_based_vega_gene NA ENST00000588291 COSM4008750 1 NA GCG C,T 1.647e-05 1:51792395 NRDC HGNC Symbol protein_coding 89746 ENSG00000078618 ENSE00003594065 missense_variant 1.844259 0.8047 0.49412 0.67177 0.735980055227976 0 NA NA 1.21914e-05 ENSE00000835661_006 ENSE00000835661 006 1 52257993 52258162 - 56 48 66 G A 52258068 1902 95 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATATGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC 51792320 51792490 51792395 51792396 51792396 exon -20 0.604166666666667 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATATGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC mutant NA NA NA NA NA 46 337 0.80662314447957 0.807271571064575 0.806947357772072 0.85 0.918181365153329 0.829224013522643 0.977337440850611 NA NA -0.0226008690430729 -0.170065869786037 0.884090682576665 0.903280727186627 NA -0.0963333694145548 NA FALSE NA 1 7.277 rs149391175 upstream_gene_variant MODIFIER RP4-657D16.3 Clone_based_vega_gene NA ENST00000588291 rs149391175 1 NA A:0 A:0.0001 CGT G,A 1.647e-05 1:51792396 NRDC HGNC Symbol protein_coding 89746 ENSG00000078618 ENSE00003594065 missense_variant 4.926091 0.961 0.9899 0.67177 0.98986232071227 0 NA NA 1.62559e-05 ENSE00000835661_008 ENSE00000835661 008 1 52257993 52258162 - 56 48 66 A G 52258072 1904 91 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAACATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC 51792320 51792490 51792399 51792400 51792400 exon -24 0.520833333333333 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAACATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC mutant NA NA NA NA NA 98 33 0.972795199838525 0.8 0.886397599919263 0.85 0.918181365153329 0.829224013522643 0.977337440850611 NA NA 0.143571186315882 -0.177337440850611 0.884090682576665 0.903280727186627 NA -0.0168831272673648 NA FALSE NA 1 6.371 . upstream_gene_variant MODIFIER RP4-657D16.3 Clone_based_vega_gene NA ENST00000588291 1 NA TAT A,G 8.237e-06 1:51792400 NRDC HGNC Symbol protein_coding 89746 ENSG00000078618 ENSE00003594065 missense_variant 1.684682 0.95194 0.96222 0.67177 0.942035051423236 0 NA NA 4.06332e-06 ENSE00000835661_009 ENSE00000835661 009 1 52257993 52258162 - 56 48 66 G T 52258095 1905 68 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTAAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC 51792320 51792490 51792422 51792423 51792423 exon 2 0.0416666666666667 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTAAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC mutant 148 372 0.842557182576394 0.85 0.846278591288197 NA NA NA NA NA 0.85 0.918181365153329 0.829224013522643 0.977337440850611 -0.00744281742360553 -0.0681813651533294 NA NA 0.884090682576665 0.903280727186627 -0.0378120912884675 NA NA NA FALSE 1 9.078 . upstream_gene_variant MODIFIER RP4-657D16.3 Clone_based_vega_gene NA ENST00000588291 1 NA TGA G,T 8.237e-06 1:51792423 NRDC HGNC Symbol protein_coding 89746 ENSG00000078618 ENSE00003594065 stop_gained 14.411903 0.97496 0.99538 0.67177 0.99547611421547 0 NA NA 4.06336e-06 ENSE00000835661_011 ENSE00000835661 011 1 52257993 52258162 - 56 48 66 G T 52258113 1907 50 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGAAAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC 51792320 51792490 51792440 51792441 51792441 upstr_intron -17 -0.242424242424242 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGAAAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC mutant NA NA NA NA NA 73 27 0.974336205290568 0.95 0.962168102645284 0.85 0.918181365153329 0.829224013522643 0.977337440850611 NA NA 0.145112191767925 -0.0273374408506115 0.884090682576665 0.903280727186627 NA 0.0588873754586566 NA FALSE NA 0.318 0.864 . upstream_gene_variant MODIFIER RP4-657D16.3 Clone_based_vega_gene NA ENST00000588291 1 NA TGT G,T 8.237e-06 1:51792441 NRDC HGNC Symbol protein_coding 89746 ENSG00000078618 ENSE00003594065 intron_variant 0.082184 0.43572 0.52066 0.069865 0.580471599958643 0.15024 NA NA 4.06402e-06 ENSE00000835661_012 ENSE00000835661 012 1 52257993 52258162 - 56 48 66 C T 52258123 1908 40 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAATTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC 51792320 51792490 51792450 51792451 51792451 upstr_intron -27 -0.393939393939394 CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAATTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC mutant NA NA NA NA NA 443 60 1 1 1 0.85 0.918181365153329 0.829224013522643 0.977337440850611 NA NA 0.170775986477357 0.0226625591493885 0.884090682576665 0.903280727186627 NA 0.0967192728133726 NA FALSE NA 0.014 0.065 . upstream_gene_variant MODIFIER RP4-657D16.3 Clone_based_vega_gene NA ENST00000588291 1 NA ACT C,T 8.236e-05 1:51792451 NRDC HGNC Symbol protein_coding 89746 ENSG00000078618 ENSE00003594065 intron_variant 0.362577 0.30175 0.25587 0.069865 0.523005604850912 0.16484 NA NA 7.31648e-05 ENSE00000835661_013 ENSE00000835661 013 1 52257993 52258162 - 56 48 66 C T 52258142 1909 21 CTGGATTATTTAAAAGCCCTATAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC 51792320 51792490 51792469 51792470 51792470 upstr_intron -46 -0.681818181818182 CTGGATTATTTAAAAGCCCTATAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC mutant NA NA NA NA NA 660 153 0.998370713440168 0.999750874791618 0.999060794115893 0.85 0.918181365153329 0.829224013522643 0.977337440850611 NA NA 0.169146699917525 0.0224134339410063 0.884090682576665 0.903280727186627 NA 0.0957800669292654 NA FALSE NA 0 -4.065 . upstream_gene_variant MODIFIER RP4-657D16.3 Clone_based_vega_gene NA ENST00000588291 1 NA ACA T,T 8.237e-06 1:51792470 NRDC HGNC Symbol protein_coding 89746 ENSG00000078618 ENSE00003594065 intron_variant -0.022052 0.18661 0.11588 0.075938 0.761301498113177 0.138142 NA NA 1.22258e-05 ENSE00000968373_001 ENSE00000968373 001 3 49462756 49462925 - 44 72 54 A C 49462768 1176 158 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGGGAATGGCTCTAG 49425322 49425492 49425334 49425335 49425335 downstr_intron 32 1.74418604651163 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGGGAATGGCTCTAG GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG mutant NA NA NA NA NA 121 251 0.894265844267453 0.95 0.922132922133726 0.85 0.841339548216762 0.948101706843408 0.938551841686114 NA NA -0.0538358625759551 0.0114481583138859 0.845669774108381 0.943326774264761 NA -0.0211938521310346 NA FALSE NA 0 -0.133 . upstream_gene_variant MODIFIER AMT HGNC 473 ENST00000476828 1 NA CAC A,C 3.297e-05 3:49425335 NICN1 HGNC Symbol protein_coding 6380 ENSG00000145029 ENSE00003793218 non_coding_transcript_exon_variant -0.414206 0.1692 0.04001 0.256867 0.507856918656344 0.0807892 0.257245528868092 FALSE 2.20103e-05 ENSE00000968373_002 ENSE00000968373 002 3 49462756 49462925 - 44 72 54 C T 49462769 1177 157 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTATGAATGGCTCTAG 49425322 49425492 49425335 49425336 49425336 downstr_intron 31 1.72093023255814 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTATGAATGGCTCTAG GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG mutant NA NA NA NA NA 192 224 0.8 0.8 0.8 0.85 0.841339548216762 0.948101706843408 0.938551841686114 NA NA -0.148101706843408 -0.138551841686114 0.845669774108381 0.943326774264761 NA -0.143326774264761 NA FALSE NA 0 0.004 . upstream_gene_variant MODIFIER AMT HGNC 473 ENST00000476828 1 NA ACA C,T 8.242e-06 3:49425336 NICN1 HGNC Symbol protein_coding 6380 ENSG00000145029 ENSE00003793218 non_coding_transcript_exon_variant -0.501494 0.11896 0.01711 0.256867 0.347077349789007 0.0807892 0.257245528868092 FALSE NA ENSE00000968373_006 ENSE00000968373 006 3 49462756 49462925 - 44 72 54 G A 49462805 1181 121 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCTGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG 49425322 49425492 49425371 49425372 49425372 exon -6 0.930555555555556 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCTGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG mutant NA NA NA NA NA 541 25 0.809784640849707 0.8 0.804892320424853 0.85 0.841339548216762 0.948101706843408 0.938551841686114 NA NA -0.138317065993701 -0.138551841686114 0.845669774108381 0.943326774264761 NA -0.138434453839908 NA FALSE NA 0.949 1.556 . upstream_gene_variant MODIFIER AMT HGNC 473 ENST00000476828 rs200840185 1 NA CGG G,A 3.295e-05 3:49425372 NICN1 HGNC Symbol protein_coding 6380 ENSG00000145029 ENSE00003793218 missense_variant 1.097418 0.77371 0.55931 0.67177 0.721554771011273 0 0.257245528868092 FALSE 4.9579e-05 ENSE00000968373_009 ENSE00000968373 009 3 49462756 49462925 - 44 72 54 G C 49462816 1184 110 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACGTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG 49425322 49425492 49425382 49425383 49425383 exon -17 0.777777777777778 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACGTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG mutant NA NA NA NA NA 215 11 0.951652755762712 0.95 0.950826377881356 0.85 0.841339548216762 0.948101706843408 0.938551841686114 NA NA 0.0035510489193038 0.0114481583138858 0.845669774108381 0.943326774264761 NA 0.0074996036165948 NA FALSE NA 1 5.45 . upstream_gene_variant MODIFIER AMT HGNC 473 ENST00000476828 1 NA AGG G,C 8.237e-06 3:49425383 NICN1 HGNC Symbol protein_coding 6380 ENSG00000145029 ENSE00003793218 missense_variant 2.805458 0.97443 0.94929 0.67177 0.988800840825155 0 0.257245528868092 FALSE 4.11889e-06 ENSE00000968373_014 ENSE00000968373 014 3 49462756 49462925 - 44 72 54 C T 49462862 1189 64 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCATGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG 49425322 49425492 49425428 49425429 49425429 exon 10 0.138888888888889 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCATGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG mutant NA NA NA NA NA 321 112 0.801003493287722 0.8 0.800501746643861 0.85 0.841339548216762 0.948101706843408 0.938551841686114 NA NA -0.147098213555686 -0.138551841686114 0.845669774108381 0.943326774264761 NA -0.1428250276209 NA FALSE NA 0 -2.049 . upstream_gene_variant MODIFIER AMT HGNC 473 ENST00000476828 rs566704794 1 NA ACG C,T 8.237e-06 3:49425429 NICN1 HGNC Symbol protein_coding 6380 ENSG00000145029 ENSE00003793218 missense_variant -0.643979 0.06671 0.00277 0.706298 0.716783367406247 0 0.257245528868092 FALSE 8.34955e-06 ENSE00000968373_017 ENSE00000968373 017 3 49462756 49462925 - 44 72 54 C G 49462880 1192 46 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTCCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG 49425322 49425492 49425446 49425447 49425447 upstr_intron -9 -0.148148148148148 GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTCCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG mutant NA NA NA NA NA 423 152 0.961802757263663 0.962769250353087 0.962286003808375 0.85 0.841339548216762 0.948101706843408 0.938551841686114 NA NA 0.0137010504202554 0.0242174086669734 0.845669774108381 0.943326774264761 NA 0.0189592295436144 NA FALSE NA 0.962 0.048 . upstream_gene_variant MODIFIER AMT HGNC 473 ENST00000476828 1 NA GCA C,G 1.648e-05 3:49425447 NICN1 HGNC Symbol protein_coding 6380 ENSG00000145029 ENSE00003793218 intron_variant 1.058926 0.94917 0.67827 0.156188 0.627996272430219 0.366106 0.257245528868092 FALSE 8.67995e-06 ENSE00000968373_020 ENSE00000968373 020 3 49462756 49462925 - 44 72 54 C T 49462895 1195 31 GTCCCAGAGCTGTCCACTTTGTCTCACTCAAGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG 49425322 49425492 49425461 49425462 49425462 upstr_intron -24 -0.425925925925926 GTCCCAGAGCTGTCCACTTTGTCTCACTCAAGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG mutant NA NA NA NA NA 77 302 0.999464311271883 0.992889417041128 0.996176864156505 0.85 0.841339548216762 0.948101706843408 0.938551841686114 NA NA 0.0513626044284746 0.054337575355014 0.845669774108381 0.943326774264761 NA 0.0528500898917443 NA FALSE NA 0.003 0.921 . upstream_gene_variant MODIFIER AMT HGNC 473 ENST00000476828 1 NA CCT C,T 2.474e-05 3:49425462 NICN1 HGNC Symbol protein_coding 6380 ENSG00000145029 ENSE00003793218 intron_variant -0.214039 0.17926 0.08189 0.156188 0.588300308643672 0.167475 0.257245528868092 FALSE 2.80073e-05 ENSE00000971855_001 ENSE00000971855 001 5 96440862 96441031 - 32 96 42 T C 96440872 873 160 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATGTTTGTTTGAT 97105157 97105327 97105167 97105168 97105168 downstr_intron 22 1.70967741935484 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATGTTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 821 190 0.997564567426153 1 0.998782283713077 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0664354670836905 0.055542799817947 0.984973524361265 0.937793150262258 NA 0.0609891334508187 NA FALSE NA 0 -0.907 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 1 NA ATA T,C 8.236e-06 5:97105168 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 intron_variant 0.058785 0.17288 0.00279 0.088506 0.583007454784076 0.10163 0.0166746879363502 FALSE 4.06547e-06 ENSE00000971855_002 ENSE00000971855 002 5 96440862 96441031 - 32 96 42 G A 96440875 874 157 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCATATATTTGTTTGAT 97105157 97105327 97105170 97105171 97105171 downstr_intron 19 1.61290322580645 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCATATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 667 1013 0.996873581496333 0.99968762696942 0.998280604232876 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.06574448115387 0.0552304267873673 0.984973524361265 0.937793150262258 NA 0.0604874539706187 NA FALSE NA 0 -0.566 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 1 NA TGT G,A 8.236e-06 5:97105171 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 intron_variant 0.214119 0.21205 0.0459 0.088506 0.687082033240641 0.10163 0.0166746879363502 FALSE 4.06534e-06 ENSE00000971855_004 ENSE00000971855 004 5 96440862 96441031 - 32 96 42 G A 96440890 876 142 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTATCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105185 97105186 97105186 downstr_intron 4 1.12903225806452 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTATCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 188 430 0.989184663031346 0.998751234578058 0.993967948804702 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.058055562688883 0.0542940343960052 0.984973524361265 0.937793150262258 NA 0.0561747985424441 NA FALSE NA 0.956 1.006 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 1 NA GGT G,A 1.647e-05 5:97105186 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 splice_region_variant 0.142935 0.39075 0.28872 0.088506 0.481689083252147 0.218383 0.0166746879363502 FALSE 2.03186e-05 ENSE00000971855_005 ENSE00000971855 005 5 96440862 96441031 - 32 96 42 C T 96440903 877 129 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTAGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105198 97105199 97105199 exon -10 0.90625 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTAGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 737 166 0.992566574878842 0.99129946041726 0.991933017648051 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0614374745363795 0.0468422602352067 0.984973524361265 0.937793150262258 NA 0.0541398673857931 NA FALSE NA 1 2.96 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 1 NA CCA C,T 8.236e-06 5:97105199 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 synonymous_variant 0.420347 0.98923 0.93647 0.475973 0.590732658476496 0 0.0166746879363502 FALSE 4.06332e-06 ENSE00000971855_006 ENSE00000971855 006 5 96440862 96441031 - 32 96 42 C T 96440915 878 117 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGAAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105210 97105211 97105211 exon -22 0.78125 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGAAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 764 878 0.994335425999621 0.99824713665939 0.996291281329506 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0632063256571584 0.0537899364773373 0.984973524361265 0.937793150262258 NA 0.0584981310672479 NA FALSE NA 0.973 0.213 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 1 NA TCC C,T 8.236e-06 5:97105211 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 synonymous_variant 0.72099 0.97537 0.68998 0.6512 0.454653113992649 0 0.0166746879363502 FALSE 8.12665e-06 ENSE00000971855_007 ENSE00000971855 007 5 96440862 96441031 - 32 96 42 C G 96440917 879 115 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGCGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105212 97105213 97105213 exon -24 0.760416666666667 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGCGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 1363 342 0.996806105667147 1 0.998403052833573 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0656770053246842 0.055542799817947 0.984973524361265 0.937793150262258 NA 0.0606099025713156 NA FALSE NA 1 7.325 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 rs578123820 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CCC C,G 8.236e-06 5:97105213 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 missense_variant 4.872475 0.99102 0.98312 0.6512 0.998291585329363 0 0.0166746879363502 FALSE 4.06336e-06 ENSE00000971855_008 ENSE00000971855 008 5 96440862 96441031 - 32 96 42 G T 96440932 880 100 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGATGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105227 97105228 97105228 exon -39 0.604166666666667 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGATGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 579 631 1 0.996437996012813 0.998218998006406 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0688708996575375 0.05198079583076 0.984973524361265 0.937793150262258 NA 0.0604258477441487 NA FALSE NA 0.739 -0.357 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 1 NA AGC G,T 8.236e-06 5:97105228 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 missense_variant 3.162413 0.97087 0.7145 0.6512 0.991480246860733 0 0.0166746879363502 FALSE 4.06339e-06 ENSE00000971855_012 ENSE00000971855 012 5 96440862 96441031 - 32 96 42 C T 96440948 884 84 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGAGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105243 97105244 97105244 exon 42 0.4375 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGAGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 2349 2801 0.997805642223815 0.998846831284464 0.99832623675414 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0666765418813525 0.0543896311024111 0.984973524361265 0.937793150262258 NA 0.0605330864918818 NA FALSE NA 0.025 -0.502 rs35222312 intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 rs35222312 1 T:0.0124 T:0.0446 T:0.0043 NA T:0 T:0 T:0 T:0.0454 T:0.0001 CCC T,T 0.003871 5:97105244 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 synonymous_variant 0.714268 0.89795 0.03326 0.6512 0.381506411715712 0 0.0166746879363502 FALSE 0.00297931 ENSE00000971855_013 ENSE00000971855 013 5 96440862 96441031 - 32 96 42 C A 96440961 885 71 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCATCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105256 97105257 97105257 exon 29 0.302083333333333 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCATCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 216 117 1 1 1 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0688708996575375 0.055542799817947 0.984973524361265 0.937793150262258 NA 0.0622068497377422 NA FALSE NA 0.999 1.399 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 1 NA GCT C,A 8.236e-06 5:97105257 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 missense_variant 4.520394 0.98754 0.9238 0.6512 0.985792600804237 0 0.0166746879363502 FALSE 2.03285e-05 ENSE00000971855_014 ENSE00000971855 014 5 96440862 96441031 - 32 96 42 G A 96440963 886 69 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCTAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105258 97105259 97105259 exon 27 0.28125 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCTAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 1085 1340 0.986981301033828 0.994224995055567 0.990603148044698 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0558522006913653 0.0497677948735145 0.984973524361265 0.937793150262258 NA 0.0528099977824399 NA FALSE NA 0.003 -1.55 rs150140767 intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 rs150140767 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0023 A:0 TGG G,A 0.0002471 5:97105259 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 synonymous_variant -0.283732 0.63208 0.07948 0.475973 0.457848008355171 0 0.0166746879363502 FALSE 0.000158569 ENSE00000971855_015 ENSE00000971855 015 5 96440862 96441031 - 32 96 42 C T 96440974 887 58 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATACAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105269 97105270 97105270 exon 16 0.166666666666667 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATACAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 786 530 1 0.999402729990819 0.99970136499541 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0688708996575375 0.0549455298087662 0.984973524361265 0.937793150262258 NA 0.0619082147331518 NA FALSE NA 1 7.325 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 1 NA GCA C,T 2.471e-05 5:97105270 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 missense_variant 4.445785 0.99487 0.98182 0.475973 0.997048302897736 0 0.0166746879363502 FALSE 6.91265e-05 ENSE00000971855_016 ENSE00000971855 016 5 96440862 96441031 - 32 96 42 T A 96440976 888 56 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGTTGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105271 97105272 97105272 exon 14 0.145833333333333 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGTTGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 356 962 0.998370273938611 0.99500607784836 0.996688175893485 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0672411735961482 0.050548877666307 0.984973524361265 0.937793150262258 NA 0.0588950256312276 NA FALSE NA 1 7.533 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 rs376367705 1 NA A:0.0002 A:0 ATC T,A 8.236e-06 5:97105272 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 missense_variant 4.106413 0.99326 0.98254 0.475973 0.965124709351896 0 0.0166746879363502 FALSE 4.06736e-06 ENSE00000971855_017 ENSE00000971855 017 5 96440862 96441031 - 32 96 42 G C 96441006 889 26 GGAAAAATCAGTAATTTTTCTTTTTGTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105301 97105302 97105302 upstr_intron -17 -0.380952380952381 GGAAAAATCAGTAATTTTTCTTTTTGTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 669 1746 1 0.987418916129253 0.993709458064626 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 NA NA 0.0688708996575375 0.0429617159471996 0.984973524361265 0.937793150262258 NA 0.0559163078023685 NA FALSE NA 0 0.035 . intron_variant MODIFIER CTD-2215E18.1 Clone_based_vega_gene NA ENST00000509481 3/4 rs374224823 1 NA C:0 C:0.0001 AGA G,C 1.647e-05 5:97105302 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 intron_variant -0.21135 0.21703 0.05842 0.088506 0.36445436637753 0.0456277 0.0166746879363502 FALSE 8.22233e-06 ENSE00001060784_001 ENSE00001060784 001 19 10429800 10429969 - 42 75 53 A G 10429829 906 141 TAAAAGCTGATTGCTACACATGCCATACCGGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319152 10319153 10319153 downstr_intron 13 1.31707317073171 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCCGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 53 279 1 0.994863667242231 0.997431833621116 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0523643200798879 0.989135919498331 0.940875476626303 NA 0.0565563569948123 NA FALSE NA 0 -0.945 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA CAG A,G 1.654e-05 19:10319153 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant 0.144733 0.17623 0.03081 0.256867 0.514276704500587 0.0602374 0.982340267394972 TRUE 8.14438e-06 ENSE00001060784_002 ENSE00001060784 002 19 10429800 10429969 - 42 75 53 G T 10429831 907 139 TAAAAGCTGATTGCTACACATGCCATACCAGTTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319154 10319155 10319155 downstr_intron 11 1.26829268292683 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCAACTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 476 901 1 0.999746166827126 0.999873083413563 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0572468196647826 0.989135919498331 0.940875476626303 NA 0.0589976067872597 NA FALSE NA 0 -0.717 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 rs201069531 1 T:0.0058 T:0.0219 T:0 NA T:0 T:0 T:0 T:0.014 T:0.0001 GGT G,T 0.001464 19:10319155 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant 0.049323 0.2065 0.04433 0.256867 0.812309022446909 0.0602374 0.982340267394972 TRUE 0.00115645 ENSE00001060784_003 ENSE00001060784 003 19 10429800 10429969 - 42 75 53 C T 10429849 908 121 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTTGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319172 10319173 10319173 exon -8 0.906666666666667 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCAACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 123 172 1 1 1 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0575006528376568 0.989135919498331 0.940875476626303 NA 0.0591245233736968 NA FALSE NA 1 3.233 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 rs374391089 1 NA T:0 T:0.0001 TCG C,T 2.483e-05 19:10319173 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 5.338264 0.92463 0.81083 0.67177 0.999333865589085 0 0.982340267394972 TRUE 8.1422e-06 ENSE00001060784_004 ENSE00001060784 004 19 10429800 10429969 - 42 75 53 C T 10429852 909 118 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGTTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319175 10319176 10319176 exon -11 0.866666666666667 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAACCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 1880 194 0.999473450019992 0.996167341737311 0.997820395878652 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0602218439297286 0.053667994574968 0.989135919498331 0.940875476626303 NA 0.0569449192523483 NA FALSE NA 1 1.166 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA GCT C,T 8.275e-06 19:10319176 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 2.43538 0.92463 0.73314 0.67177 0.995726431530091 0 0.982340267394972 TRUE NA ENSE00001060784_005 ENSE00001060784 005 19 10429800 10429969 - 42 75 53 G A 10429856 910 114 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGATCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319179 10319180 10319180 exon -15 0.813333333333333 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGATCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 332 495 0.998502959196571 0.995381530071883 0.996942244634227 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0592513531063077 0.0528821829095399 0.989135919498331 0.940875476626303 NA 0.0560667680079238 NA FALSE NA 1 2.644 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA GGT G,A 8.274e-06 19:10319180 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 1.106298 0.83909 0.766 0.67177 0.978406160382604 0 0.982340267394972 TRUE 1.6273e-05 ENSE00001060784_006 ENSE00001060784 006 19 10429800 10429969 - 42 75 53 C T 10429859 911 111 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCTGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319182 10319183 10319183 exon -18 0.773333333333333 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACAGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 1594 863 0.999615238490456 1 0.999807619245228 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0603636324001924 0.0575006528376568 0.989135919498331 0.940875476626303 NA 0.0589321426189246 NA FALSE NA 0.901 1.113 rs184591581 upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 rs184591581 1 T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 T:0.0003 T:0.0014 CCG C,T 0.0007364 19:10319183 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 1.826043 0.24523 0.38568 0.706548 0.874814850879249 0 0.982340267394972 TRUE 0.00079752 ENSE00001060784_007 ENSE00001060784 007 19 10429800 10429969 - 42 75 53 C G 10429880 912 90 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTGCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319203 10319204 10319204 exon 37 0.493333333333333 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGCAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 703 226 0.994682339540981 0.999299565757812 0.996990952649397 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0554307334507178 0.0568002185954689 0.989135919498331 0.940875476626303 NA 0.0561154760230934 NA FALSE NA 1 3.233 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA TCC C,G 8.274e-06 19:10319204 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 4.984778 0.92738 0.84204 0.706548 0.998286816333429 0 0.982340267394972 TRUE 4.06745e-06 ENSE00001060784_008 ENSE00001060784 008 19 10429800 10429969 - 42 75 53 C T 10429882 913 88 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCTGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319205 10319206 10319206 exon 35 0.466666666666667 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACAGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 253 50 0.97772917534466 1 0.98886458767233 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0384775692543965 0.0575006528376568 0.989135919498331 0.940875476626303 NA 0.0479891110460267 NA FALSE NA 0.967 3.233 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 COSM564869&COSM1141511 1 NA CCG C,T 1.655e-05 19:10319206 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 6.175135 0.92463 0.806 0.706548 0.99935388519349 0 0.982340267394972 TRUE 1.62714e-05 ENSE00001060784_009 ENSE00001060784 009 19 10429800 10429969 - 42 75 53 G A 10429883 914 87 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCATGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319206 10319207 10319207 exon 34 0.453333333333333 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCATGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 386 138 0.997988745008285 0.977579604977022 0.987784174992653 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0587371389180215 0.0350802578146789 0.989135919498331 0.940875476626303 NA 0.0469086983663502 NA FALSE NA 0.907 1.767 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA CGT G,A 8.273e-06 19:10319207 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 7.893875 0.92552 0.77814 0.706548 0.999238596088058 0 0.982340267394972 TRUE 2.03381e-05 ENSE00001060784_010 ENSE00001060784 010 19 10429800 10429969 - 42 75 53 G A 10429887 915 83 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGATGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319210 10319211 10319211 exon 30 0.4 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCATCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 80 321 1 0.993428702506664 0.996714351253332 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0509293553443211 0.989135919498331 0.940875476626303 NA 0.0558388746270289 NA FALSE NA 0.996 0.164 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA GGT G,A 8.273e-06 19:10319211 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 synonymous_variant 1.050043 0.8745 0.55033 0.706548 0.888690504229631 0 0.982340267394972 TRUE 4.06739e-06 ENSE00001060784_011 ENSE00001060784 011 19 10429800 10429969 - 42 75 53 A G 10429897 916 73 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGGGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319220 10319221 10319221 exon 20 0.266666666666667 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCCCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 26 185 1 1 1 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0575006528376568 0.989135919498331 0.940875476626303 NA 0.0591245233736968 NA FALSE NA 1 2.384 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA GAG A,G 8.272e-06 19:10319221 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 5.934926 0.92003 0.74236 0.706548 0.997612262891486 0 0.982340267394972 TRUE 4.06759e-06 ENSE00001060784_012 ENSE00001060784 012 19 10429800 10429969 - 42 75 53 C T 10429900 917 70 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCTGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319223 10319224 10319224 exon 17 0.226666666666667 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCAGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 41 459 1 0.999917044739951 0.999958522369976 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0574176975776081 0.989135919498331 0.940875476626303 NA 0.0590830457436724 NA FALSE NA 1 3.233 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA CCG C,T 8.27e-06 19:10319224 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 7.556322 0.92463 0.81083 0.706548 0.999275897192273 0 0.982340267394972 TRUE NA ENSE00001060784_013 ENSE00001060784 013 19 10429800 10429969 - 42 75 53 G A 10429901 918 69 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCACCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319224 10319225 10319225 exon 16 0.213333333333333 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGTGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 1217 1087 0.994558682861145 0.905039004536477 0.949798843698811 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0553070767708814 -0.0374603426258663 0.989135919498331 0.940875476626303 NA 0.00892336707250757 NA FALSE NA 1 2.609 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA CGC G,A 8.27e-06 19:10319225 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 7.378042 0.90226 0.78621 0.706548 0.999020460461817 0 0.982340267394972 TRUE 8.13603e-06 ENSE00001060784_014 ENSE00001060784 014 19 10429800 10429969 - 42 75 53 C T 10429903 919 67 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCTGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319226 10319227 10319227 exon 14 0.186666666666667 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCAGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 181 227 0.994019610355832 1 0.997009805177916 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0547680042655687 0.0575006528376568 0.989135919498331 0.940875476626303 NA 0.0561343285516128 NA FALSE NA 1 1.897 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 rs200307347 1 NA CCG C,T 2.481e-05 19:10319227 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 5.336199 0.90085 0.73747 0.706548 0.998747200653095 0 0.982340267394972 TRUE 2.44097e-05 ENSE00001060784_015 ENSE00001060784 015 19 10429800 10429969 - 42 75 53 G A 10429904 920 66 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCAAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319227 10319228 10319228 exon 13 0.173333333333333 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTTGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 543 593 0.995283135295159 1 0.997641567647579 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0560315292048957 0.0575006528376568 0.989135919498331 0.940875476626303 NA 0.0567660910212763 NA FALSE NA 1 1.744 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA CGA G,A 1.654e-05 19:10319228 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant 6.373517 0.88758 0.72026 0.706548 0.998989518035894 0 0.982340267394972 TRUE 1.62725e-05 ENSE00001060784_016 ENSE00001060784 016 19 10429800 10429969 - 42 75 53 T A 10429908 921 62 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGTCCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA 10319123 10319293 10319231 10319232 10319232 exon 9 0.12 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGTCCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 1065 364 0.978946307835438 0.96207433859475 0.970510323215094 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0396947017451748 0.0195749914324064 0.989135919498331 0.940875476626303 NA 0.0296348465887906 NA FALSE NA 0.998 0.019 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA GTC T,A 8.267e-06 19:10319232 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 synonymous_variant 0.561826 0.87159 0.52941 0.706548 0.75631088604988 0 0.982340267394972 TRUE 1.2206e-05 ENSE00001060784_017 ENSE00001060784 017 19 10429800 10429969 - 42 75 53 T C 10429913 922 57 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCACGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319236 10319237 10319237 exon 4 0.0533333333333333 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACGTGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 83 258 1 0.99832412649852 0.99916206324926 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0558247793361766 0.989135919498331 0.940875476626303 NA 0.0582865866229567 NA FALSE NA 0 -2.453 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA ATG T,C 1.653e-05 19:10319237 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 missense_variant -2.368344 0.13662 0.01261 0.706548 0.451045922351689 0 0.982340267394972 TRUE 8.13729e-06 ENSE00001060784_018 ENSE00001060784 018 19 10429800 10429969 - 42 75 53 G A 10429927 923 43 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAACGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319250 10319251 10319251 upstr_intron -11 -0.188679245283019 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGTTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 954 557 0.995959585984958 0.999147235120009 0.997553410552483 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0567079798946946 0.0566478879576661 0.989135919498331 0.940875476626303 NA 0.0566779339261803 NA FALSE NA 0.015 0.615 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 rs371572382 1 NA A:0 A:0.0001 AGC G,A 8.265e-06 19:10319251 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant 0.537507 0.29684 0.10476 0.099367 0.77295406414763 0.185091 0.982340267394972 TRUE 4.07242e-06 ENSE00001060784_019 ENSE00001060784 019 19 10429800 10429969 - 42 75 53 C T 10429928 924 42 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGTGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319251 10319252 10319252 upstr_intron -12 -0.207547169811321 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCACTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 101 381 1 0.999297714399794 0.999648857199897 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0567983672374508 0.989135919498331 0.940875476626303 NA 0.0587733805735938 NA FALSE NA 0 -1.151 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 rs542453795 1 T:0.0004 T:0 T:0.0014 NA T:0.001 T:0 T:0 GCG C,T 8.265e-06 19:10319252 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant 0.071646 0.13276 0.02066 0.099367 0.777204402035892 0.170006 0.982340267394972 TRUE 2.03688e-05 ENSE00001060784_020 ENSE00001060784 020 19 10429800 10429969 - 42 75 53 G A 10429929 925 41 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCAGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319252 10319253 10319253 upstr_intron -13 -0.226415094339623 GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCTGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 405 470 1 1 1 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0575006528376568 0.989135919498331 0.940875476626303 NA 0.0591245233736968 NA FALSE NA 0 -0.292 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 rs374477560 1 NA A:0 A:0.0001 CGG G,A 0.0001157 19:10319253 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant 0.403967 0.18122 0.05129 0.099367 0.755045280208745 0.170006 0.982340267394972 TRUE 5.70381e-05 ENSE00001060784_021 ENSE00001060784 021 19 10429800 10429969 - 42 75 53 A G 10429940 926 30 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACGTTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319263 10319264 10319264 upstr_intron -24 -0.433962264150943 GGGTGAGGCTGGGACAGACTCCAACCCAACGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 404 629 0.999489559842709 0.995701323173025 0.997595441507867 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0602379537524453 0.0532019760106814 0.989135919498331 0.940875476626303 NA 0.0567199648815634 NA FALSE NA 0 -0.07 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA CAT A,G 8.265e-06 19:10319264 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant -0.029121 0.14235 0.0046 0.099367 0.559535117904455 0.0621678 0.982340267394972 TRUE 4.08153e-06 ENSE00001060784_023 ENSE00001060784 023 19 10429800 10429969 - 42 75 53 G A 10429943 928 27 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTAGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319266 10319267 10319267 upstr_intron -27 -0.490566037735849 GGGTGAGGCTGGGACAGACTCCAACCTAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 829 843 0.99244729259306 0.999812347754272 0.996129820173666 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0531956865027963 0.057313000591929 0.989135919498331 0.940875476626303 NA 0.0552543435473626 NA FALSE NA 0 0.1 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA TGG G,A 8.264e-06 19:10319267 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant 0.068529 0.16561 0.0969 0.099367 0.6306770731177 0.0621678 0.982340267394972 TRUE 4.08513e-06 ENSE00001060784_024 ENSE00001060784 024 19 10429800 10429969 - 42 75 53 G T 10429945 929 25 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGTTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319268 10319269 10319269 upstr_intron -29 -0.528301886792453 GGGTGAGGCTGGGACAGACTCCAAACCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 188 975 1 0.999490956763642 0.999745478381821 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0569916096012992 0.989135919498331 0.940875476626303 NA 0.058870001755518 NA FALSE NA 0 0.064 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA GGT G,T 8.264e-06 19:10319269 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant 0.059667 0.17379 0.1263 0.099367 0.677779771573418 0.0621678 0.982340267394972 TRUE 1.63732e-05 ENSE00001060784_025 ENSE00001060784 025 19 10429800 10429969 - 42 75 53 G A 10429948 930 22 TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTAGAGTCTGTCCCAGCCTCACCC 10319123 10319293 10319271 10319272 10319272 upstr_intron -32 -0.584905660377358 GGGTGAGGCTGGGACAGACTCTAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA mutant NA NA NA NA NA 169 1576 1 0.99838454365032 0.99919227182516 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 NA NA 0.0607483939097367 0.0558851964879767 0.989135919498331 0.940875476626303 NA 0.0583167951988567 NA FALSE NA 0 -0.333 . upstream_gene_variant MODIFIER FDX1L HGNC 30546 ENST00000541276 1 NA TGG G,A 8.264e-06 19:10319272 RAVER1 HGNC Symbol protein_coding 17428 ENSG00000161847 ENSE00003666897 intron_variant 0.283268 0.18179 0.08906 0.069865 0.637153935677771 0.0621678 0.982340267394972 TRUE 8.19034e-06 ENSE00001117772_001 ENSE00001117772 001 17 73035256 73035425 - 48 63 59 A G 73035266 2974 160 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTCCTCTCTTTCA 75039160 75039330 75039170 75039171 75039171 downstr_intron 38 1.80851063829787 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTCCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 322 242 0.994149636615651 1 0.997074818307826 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00196717660632517 0.00603895854849013 0.991897517349008 0.993071750730418 NA 0.00400306757740765 NA FALSE NA 0 -0.055 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA GAA A,G 8.236e-06 17:75039171 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant 0.203952 0.26323 0.15424 0.295142 0.567975724425291 0.0494618 NA NA 4.06392e-06 ENSE00001117772_002 ENSE00001117772 002 17 73035256 73035425 - 48 63 59 T C 73035272 2975 154 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATGTGGGTTCTCTCTTTCA 75039160 75039330 75039176 75039177 75039177 downstr_intron 32 1.68085106382979 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATGTGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 44 1387 1 1 1 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00781753999067425 0.00603895854849013 0.991897517349008 0.993071750730418 NA 0.00692824926958219 NA FALSE NA 0 -2.421 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA ATA T,C 8.236e-06 17:75039177 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant -0.107086 0.16232 0.04496 0.295142 0.341554220185894 0.0494618 NA NA 4.06197e-06 ENSE00001117772_003 ENSE00001117772 003 17 73035256 73035425 - 48 63 59 A G 73035273 2976 153 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAACATGGGTTCTCTCTTTCA 75039160 75039330 75039177 75039178 75039178 downstr_intron 31 1.65957446808511 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAACATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant 10 40 1 0.999591209034685 0.999795604517343 776 617 0.997368772790739 0.994826974068866 0.996097873429803 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 0.00370555178780907 0.0120906225488598 0.00518631278141357 0.000865932617356457 0.991897517349008 0.993071750730418 0.00789808716833446 0.00302612269938501 0.00487196446894944 FALSE FALSE 0 0.181 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 rs377649941 1 NA G:0 G:0.0001 TAT A,G 2.471e-05 17:75039178 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant 0.198617 0.2506 0.16874 0.295142 0.360499202927254 0.0494618 NA NA 1.21861e-05 ENSE00001117772_004 ENSE00001117772 004 17 73035256 73035425 - 48 63 59 A G 73035276 2977 150 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTACAATATGGGTTCTCTCTTTCA 75039160 75039330 75039180 75039181 75039181 downstr_intron 28 1.59574468085106 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTACAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 899 478 0.998154402636262 0.994310280883783 0.996232341760022 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00597194262693634 0.00034923943227283 0.991897517349008 0.993071750730418 NA 0.00316059102960459 NA FALSE NA 0 0.066 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA TAT A,G 8.236e-06 17:75039181 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant -0.089588 0.16399 0.08973 0.295142 0.376077533007467 0.0494618 NA NA NA ENSE00001117772_009 ENSE00001117772 009 17 73035256 73035425 - 48 63 59 G T 73035285 2982 141 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCAGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039189 75039190 75039190 downstr_intron 19 1.40425531914894 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCAGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 101 97 0.995005510901742 1 0.997502755450871 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00282305089241641 0.00603895854849013 0.991897517349008 0.993071750730418 NA 0.00443100472045327 NA FALSE NA 0 -0.019 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 rs533657377 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CGG G,T 8.236e-06 17:75039190 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant 0.029425 0.26675 0.09732 0.156188 0.530973416187289 0.0494618 NA NA NA ENSE00001117772_010 ENSE00001117772 010 17 73035256 73035425 - 48 63 59 C A 73035292 2983 134 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATTGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039196 75039197 75039197 downstr_intron 12 1.25531914893617 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATTGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 322 325 0.998456158650328 0.989290873682454 0.993873516166391 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00627369864100202 -0.00467016776905538 0.991897517349008 0.993071750730418 NA 0.000801765435973323 NA FALSE NA 0 -0.084 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA CCA C,A 8.237e-06 17:75039197 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant 0.286658 0.20626 0.01456 0.295142 0.581239914478603 0.0494618 NA NA 4.06128e-06 ENSE00001117772_011 ENSE00001117772 011 17 73035256 73035425 - 48 63 59 T A 73035294 2984 132 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGTTGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039198 75039199 75039199 downstr_intron 10 1.21276595744681 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGTTGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 653 483 0.911645815233784 0.999672422108725 0.955659118671254 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA -0.0805366447755421 0.00571138065721544 0.991897517349008 0.993071750730418 NA -0.0374126320591633 NA FALSE NA 0.001 0.616 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA ATC T,A 8.237e-06 17:75039199 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant 0.384968 0.29173 0.12946 0.295142 0.785948409845141 0.0571367 NA NA 4.06091e-06 ENSE00001117772_012 ENSE00001117772 012 17 73035256 73035425 - 48 63 59 T C 73035297 2985 129 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGGTGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039201 75039202 75039202 downstr_intron 7 1.14893617021277 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGGTGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 149 742 0.992295683510299 0.957900849994045 0.975098266752172 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.000113223500973647 -0.0360601914574651 0.991897517349008 0.993071750730418 NA -0.0179734839782457 NA FALSE NA 0.002 -0.307 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA ATC T,C 8.237e-06 17:75039202 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 splice_region_variant 0.430965 0.26809 0.04337 0.295142 0.814137787380048 0.317431 NA NA 1.62433e-05 ENSE00001117772_014 ENSE00001117772 014 17 73035256 73035425 - 48 63 59 C T 73035312 2987 114 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATAAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039216 75039217 75039217 exon -9 0.873015873015873 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATAAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 932 1566 0.996600420512971 0.999773621573423 0.998187021043197 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00441796050364485 0.00581258012191355 0.991897517349008 0.993071750730418 NA 0.0051152703127792 NA FALSE NA 0.741 1.023 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA TCA C,T 1.647e-05 17:75039217 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 missense_variant 5.326837 0.98356 0.93493 0.706548 0.998482929321833 0 NA NA 8.1215e-06 ENSE00001117772_015 ENSE00001117772 015 17 73035256 73035425 - 48 63 59 A G 73035320 2988 106 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGCAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039224 75039225 75039225 exon -17 0.746031746031746 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGCAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant 15 17 0.968692080845881 0.993109570035047 0.980900825440464 1753 346 0.99648979013478 0.994297177135966 0.995393483635373 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 -0.0276023673663102 0.00560898354922201 0.00430733012545392 0.000336135684456451 0.991897517349008 0.993071750730418 -0.0109966919085441 0.00232173290495519 0.0133184248134993 FALSE FALSE 0.003 -0.186 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA TAC A,G 8.236e-06 17:75039225 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 missense_variant -0.672439 0.25463 0.03592 0.706548 0.775450481119361 0 NA NA 4.06088e-06 ENSE00001117772_016 ENSE00001117772 016 17 73035256 73035425 - 48 63 59 C T 73035326 2989 100 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAAGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039230 75039231 75039231 exon -23 0.650793650793651 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAAGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 17 1085 1 0.994408850406351 0.997204425203176 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00781753999067425 0.000447808954841089 0.991897517349008 0.993071750730418 NA 0.00413267447275767 NA FALSE NA 1 3.835 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA CCT C,T 8.236e-06 17:75039231 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 missense_variant 4.804743 0.99222 0.98672 0.706548 0.991166051323949 0 NA NA 4.06078e-06 ENSE00001117772_020 ENSE00001117772 020 17 73035256 73035425 - 48 63 59 C T 73035346 2993 80 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGAGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039250 75039251 75039251 exon 21 0.333333333333333 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGAGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 70 87 1 1 1 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00781753999067425 0.00603895854849013 0.991897517349008 0.993071750730418 NA 0.00692824926958219 NA FALSE NA 0.021 0.302 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 rs368912962 1 NA T:0.0002 T:0 CCC C,T 8.236e-06 17:75039251 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 stop_gained 8.578205 0.55275 0.17658 0.706548 0.948098658540015 0 NA NA 4.06081e-06 ENSE00001117772_021 ENSE00001117772 021 17 73035256 73035425 - 48 63 59 C T 73035367 2994 59 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAAGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039271 75039272 75039272 upstr_intron -1 0 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAAGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant 44 37 0 0.0907472427993202 0.0453736213996601 147 270 0 0 0 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 -0.996294448212191 -0.896753343686505 -0.992182460009326 -0.99396104145151 0.991897517349008 0.993071750730418 -0.946523895949348 -0.993071750730418 0.0465478547810698 TRUE TRUE 1 5.568 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA CCT C,T 8.236e-06 17:75039272 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 splice_acceptor_variant 5.268675 0.99378 0.99387 0.295142 0.995248866405025 0.980253 NA NA 8.12295e-06 ENSE00001117772_023 ENSE00001117772 023 17 73035256 73035425 - 48 63 59 A G 73035379 2996 47 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCCTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039283 75039284 75039284 upstr_intron -13 -0.203389830508475 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCCTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant 34 43 0.85 0.85 0.85 89 1057 0.8 0.8 0.8 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 -0.146294448212191 -0.137500586485825 -0.192182460009326 -0.19396104145151 0.991897517349008 0.993071750730418 -0.141897517349008 -0.193071750730418 0.0511742333814096 FALSE FALSE 0 -0.073 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA AAG A,G 8.236e-06 17:75039284 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 non_coding_transcript_exon_variant 0.392695 0.15867 0.03791 0.156188 0.661779119525189 0.225219 NA NA 4.06276e-06 ENSE00001117772_024 ENSE00001117772 024 17 73035256 73035425 - 48 63 59 G A 73035380 2997 46 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTTTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039284 75039285 75039285 upstr_intron -14 -0.220338983050847 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTTTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 1069 545 1 0.99007281483118 0.99503640741559 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00781753999067425 -0.00388822662033028 0.991897517349008 0.993071750730418 NA 0.00196465668517198 NA FALSE NA 0.065 1.051 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA AGA G,A 8.236e-06 17:75039285 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 non_coding_transcript_exon_variant 0.728191 0.26856 0.5429 0.156188 0.775749278591732 0.162987 NA NA 4.06345e-06 ENSE00001117772_025 ENSE00001117772 025 17 73035256 73035425 - 48 63 59 G A 73035382 2998 44 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTTTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039286 75039287 75039287 upstr_intron -16 -0.254237288135593 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTTTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 281 260 0.992595351671527 0.990376810281931 0.991486080976729 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.000412891662201265 -0.00358423116957851 0.991897517349008 0.993071750730418 NA -0.00158566975368862 NA FALSE NA 0.377 0.864 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA AGA G,A 8.236e-06 17:75039287 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 non_coding_transcript_exon_variant 0.739908 0.22037 0.57801 0.156188 0.753151118739536 0.162987 NA NA 4.06369e-06 ENSE00001117772_026 ENSE00001117772 026 17 73035256 73035425 - 48 63 59 C A 73035393 2999 33 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCATAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039297 75039298 75039298 upstr_intron -27 -0.440677966101695 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCATAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 777 339 0.998775407678093 1 0.999387703839046 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.00659294766876717 0.00603895854849013 0.991897517349008 0.993071750730418 NA 0.00631595310862865 NA FALSE NA 0.009 0.017 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA TCT C,A 8.236e-06 17:75039298 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 non_coding_transcript_exon_variant 0.57265 0.21897 0.05274 0.156188 0.717879765431808 0.162987 NA NA 4.06765e-06 ENSE00001117772_030 ENSE00001117772 030 17 73035256 73035425 - 48 63 59 C T 73035407 3003 19 CAGCTGCTGGGGTAGAATACAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039311 75039312 75039312 upstr_intron -41 -0.677966101694915 CAGCTGCTGGGGTAGAATACAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 909 336 0.992972334038766 0.993352394273643 0.993162364156204 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA 0.000789874029440307 -0.000608647177867017 0.991897517349008 0.993071750730418 NA 9.06134257866453e-05 NA FALSE NA 0 -0.362 . upstream_gene_variant MODIFIER RN7SL573P HGNC 46589 ENST00000485340 1 NA GCA C,T 1.647e-05 17:75039312 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 non_coding_transcript_exon_variant 0.221747 0.15603 0.00272 0.156188 0.538746390848812 0.0506614 NA NA 2.4498e-05 ENSE00001160303_002 ENSE00001160303 002 3 14188755 14188924 - 35 90 45 G C 14188776 183 149 TGAGCTTGTCTTCTCTGCAAACAACCTGCACTGACCTTGGGCCCGTAGCGACGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACAT 14147254 14147424 14147275 14147276 14147276 downstr_intron 14 1.41176470588235 ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTGTTTGCAGAGAAGACAAGCTCA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA mutant NA NA NA NA NA 126 98 1 1 1 NA NA 0.974230302361629 0.98357569304233 NA NA 0.0257696976383708 0.0164243069576698 NA 0.97890299770198 NA 0.0210970022980203 NA FALSE NA 0 0.113 . downstream_gene_variant MODIFIER TMEM43 HGNC 28472 ENST00000306077 1 NA AGA G,C 1.654e-05 3:14147276 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003687231 splice_acceptor_variant 0.572676 0.24518 0.14183 0.256867 0.761006298368125 0.0600705 1.31713341793089e-10 FALSE NA ENSE00001160303_006 ENSE00001160303 006 3 14188755 14188924 - 35 90 45 C T 14188798 187 127 TGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCTGTAGCGACGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACAT 14147254 14147424 14147297 14147298 14147298 exon -9 0.911111111111111 ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACAGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA mutant NA NA NA NA NA 217 11 1 1 1 NA NA 0.974230302361629 0.98357569304233 NA NA 0.0257696976383708 0.0164243069576698 NA 0.97890299770198 NA 0.0210970022980203 NA FALSE NA 0.967 2.067 . downstream_gene_variant MODIFIER TMEM43 HGNC 28472 ENST00000306077 1 NA CCG C,T 8.27e-06 3:14147298 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003687231 missense_variant 7.484601 0.93693 0.71153 0.67177 0.998990270447432 0 1.31713341793089e-10 FALSE NA ENSE00001160303_010 ENSE00001160303 010 3 14188755 14188924 - 35 90 45 G A 14188804 191 121 TGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCCGTAGCAACGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACAT 14147254 14147424 14147303 14147304 14147304 exon -15 0.844444444444444 ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTTGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA mutant NA NA NA NA NA 31 43 1 1 1 NA NA 0.974230302361629 0.98357569304233 NA NA 0.0257696976383708 0.0164243069576698 NA 0.97890299770198 NA 0.0210970022980203 NA FALSE NA 1 6.674 . downstream_gene_variant MODIFIER TMEM43 HGNC 28472 ENST00000306077 rs373301509&COSM3992787 1 NA A:0.0003 A:0 CGA G,A 1.654e-05 3:14147304 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003687231 missense_variant 7.744287 0.95828 0.94527 0.67177 0.999159020414632 0 1.31713341793089e-10 FALSE 8.30696e-06 ENSE00001160303_011 ENSE00001160303 011 3 14188755 14188924 - 35 90 45 C G 14188806 192 119 TGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCCGTAGCGAGGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACAT 14147254 14147424 14147305 14147306 14147306 exon -17 0.822222222222222 ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCCTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA mutant NA NA NA NA NA 86 91 0.822253468733376 0.95 0.886126734366688 NA NA 0.974230302361629 0.98357569304233 NA NA -0.151976833628253 -0.0335756930423302 NA 0.97890299770198 NA -0.0927762633352917 NA FALSE NA 0.05 0.217 . downstream_gene_variant MODIFIER TMEM43 HGNC 28472 ENST00000306077 rs375748534 1 NA G:0 G:0.0001 ACG C,G 8.27e-06 3:14147306 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003687231 missense_variant 2.943881 0.3007 0.13621 0.67177 0.931227663238374 0 1.31713341793089e-10 FALSE NA ENSE00001160303_013 ENSE00001160303 013 3 14188755 14188924 - 35 90 45 T C 14188822 194 103 TGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCCGTAGCGACGCTTCAGCCTCTCCCCGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACAT 14147254 14147424 14147321 14147322 14147322 exon -33 0.644444444444444 ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCGGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA mutant NA NA NA NA NA 543 129 0.995350369650491 1 0.997675184825245 NA NA 0.974230302361629 0.98357569304233 NA NA 0.0211200672888617 0.0164243069576698 NA 0.97890299770198 NA 0.0187721871232658 NA FALSE NA 1 1.553 . downstream_gene_variant MODIFIER TMEM43 HGNC 28472 ENST00000306077 1 NA CTG T,C 8.271e-05 3:14147322 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003687231 missense_variant 5.757254 0.91744 0.84062 0.67177 0.997142006674322 0 1.31713341793089e-10 FALSE 7.42127e-05 ENSE00001160303_016 ENSE00001160303 016 3 14188755 14188924 - 35 90 45 T C 14188854 197 71 TGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCCGTAGCGACGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGCTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACAT 14147254 14147424 14147353 14147354 14147354 exon 26 0.288888888888889 ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAGCTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA mutant NA NA NA NA NA 748 158 0.99419166083881 0.87009624510435 0.93214395297158 NA NA 0.974230302361629 0.98357569304233 NA NA 0.0199613584771812 -0.11347944793798 NA 0.97890299770198 NA -0.0467590447303995 NA FALSE NA 1 5.229 . downstream_gene_variant MODIFIER TMEM43 HGNC 28472 ENST00000306077 1 NA GTT T,C 8.276e-06 3:14147354 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003687231 missense_variant 3.869234 0.96444 0.9313 0.67177 0.99887245515431 0 1.31713341793089e-10 FALSE NA ENSE00001160303_019 ENSE00001160303 019 3 14188755 14188924 - 35 90 45 C T 14188866 200 59 TGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCCGTAGCGACGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCTGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACAT 14147254 14147424 14147365 14147366 14147366 exon 14 0.155555555555556 ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCAGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA mutant NA NA NA NA NA 968 116 0.999446005658478 0.988033564332411 0.993739784995444 NA NA 0.974230302361629 0.98357569304233 NA NA 0.0252157032968483 0.00445787129008102 NA 0.97890299770198 NA 0.0148367872934647 NA FALSE NA 1 6.739 . downstream_gene_variant MODIFIER TMEM43 HGNC 28472 ENST00000306077 rs543120933 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 0.0001325 3:14147366 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003687231 missense_variant 8.475685 0.97072 0.95361 0.67177 0.999479378375111 0 1.31713341793089e-10 FALSE 0.000118131 ENSE00001306471_001 ENSE00001306471 001 17 79671615 79671784 + 48 84 38 G A 79671630 3570 16 CCGGCTGGTGTGAGGACCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704599 81704600 81704600 upstr_intron -33 -0.666666666666667 CCGGCTGGTGTGAGGACCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 18 23 1 0.985563456263224 0.992781728131612 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 NA NA 0.00117615220294442 -0.010690480207604 0.997288935304162 0.997538892133942 NA -0.00475716400232978 NA FALSE NA 0 -0.417 . downstream_gene_variant MODIFIER HGS HGNC 4897 ENST00000573949 rs571761302 1 A:0.0028 A:0 A:0 NA A:0 A:0 A:0.0143 GGC G,A 0.001507 17:81704600 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 intron_variant 1.654457 0.1698 0.08948 0.12324 0.932217807123036 0.0627364 0.0501971389457513 FALSE 0.00136699 ENSE00001306471_004 ENSE00001306471 004 17 79671615 79671784 + 48 84 38 G A 79671640 3573 26 CCGGCTGGTGTGAGGGCCAGCTGTGAACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704609 81704610 81704610 upstr_intron -23 -0.458333333333333 CCGGCTGGTGTGAGGGCCAGCTGTGAACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 13 61 1 1 1 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 NA NA 0.00117615220294442 0.00374606352917217 0.997288935304162 0.997538892133942 NA 0.0024611078660583 NA FALSE NA 0.128 1.135 . downstream_gene_variant MODIFIER HGS HGNC 4897 ENST00000573949 1 NA GGA G,A 8.237e-06 17:81704610 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 intron_variant 1.223962 0.19487 0.26526 0.12324 0.874872393628978 0.0643059 0.0501971389457513 FALSE 4.06636e-06 ENSE00001306471_010 ENSE00001306471 010 17 79671615 79671784 + 48 84 38 G C 79671680 3579 66 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCACGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704649 81704650 81704650 exon 18 0.214285714285714 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCACGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 737 59 0.997229732597471 1 0.998614866298736 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 NA NA -0.00159411519958452 0.00374606352917217 0.997288935304162 0.997538892133942 NA 0.00107597416479382 NA FALSE NA 1 0.888 . downstream_gene_variant MODIFIER HGS HGNC 4897 ENST00000573949 1 NA AGG G,C 8.237e-06 17:81704650 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 missense_variant 4.901003 0.95022 0.92591 0.627647 0.997150751450345 0 0.0501971389457513 FALSE 4.06451e-06 ENSE00001306471_015 ENSE00001306471 015 17 79671615 79671784 + 48 84 38 A G 79671699 3584 85 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGGTGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704668 81704669 81704669 exon 37 0.44047619047619 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGGTGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 82 29 1 1 1 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 NA NA 0.00117615220294442 0.00374606352917217 0.997288935304162 0.997538892133942 NA 0.0024611078660583 NA FALSE NA 0.221 1.037 . downstream_gene_variant MODIFIER HGS HGNC 4897 ENST00000573949 1 NA GAT A,G 8.237e-06 17:81704669 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 missense_variant 0.838162 0.86979 0.57359 0.627647 0.767594862761056 0 0.0501971389457513 FALSE 4.06451e-06 ENSE00001306471_019 ENSE00001306471 019 17 79671615 79671784 + 48 84 38 C G 79671715 3588 101 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTGTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704684 81704685 81704685 exon -32 0.630952380952381 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTGTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 21 397 1 1 1 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 NA NA 0.00117615220294442 0.00374606352917217 0.997288935304162 0.997538892133942 NA 0.0024611078660583 NA FALSE NA 1 6.393 . downstream_gene_variant MODIFIER HGS HGNC 4897 ENST00000573949 1 NA TCT C,G 8.237e-06 17:81704685 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 missense_variant 2.207288 0.90964 0.96532 0.627647 0.911748174279891 0 0.0501971389457513 FALSE 8.13537e-06 ENSE00001306471_020 ENSE00001306471 020 17 79671615 79671784 + 48 84 38 G A 79671717 3589 103 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTAGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704686 81704687 81704687 exon -30 0.654761904761905 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTAGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 713 300 0.999014629536392 0.998463048960043 0.998738839248218 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 NA NA 0.00019078173933651 0.0022091124892154 0.997288935304162 0.997538892133942 NA 0.00119994711427596 NA FALSE NA 0.86 1.266 rs150973550 downstream_gene_variant MODIFIER HGS HGNC 4897 ENST00000573949 rs150973550 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 TGG G,A 2.471e-05 17:81704687 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 missense_variant 2.403588 0.28113 0.33513 0.627647 0.997040338477132 0 0.0501971389457513 FALSE 2.44164e-05 ENSE00001306471_024 ENSE00001306471 024 17 79671615 79671784 + 48 84 38 G A 79671746 3593 132 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAAGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704715 81704716 81704716 exon -1 1 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAAGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 35 24 0 0 0 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 NA NA -0.998823847797056 -0.996253936470828 0.997288935304162 0.997538892133942 NA -0.997538892133942 NA TRUE NA 1 3.259 . downstream_gene_variant MODIFIER HGS HGNC 4897 ENST00000573949 1 NA AGG G,A 8.238e-06 17:81704716 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 splice_region_variant 2.091722 0.929 0.74893 0.627647 0.872444166567519 0 0.0501971389457513 FALSE 4.11313e-06 ENSE00001306471_025 ENSE00001306471 025 17 79671615 79671784 + 48 84 38 G A 79671761 3594 147 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAAAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704730 81704731 81704731 downstr_intron 15 1.40540540540541 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAAAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 41 115 1 1 1 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 NA NA 0.00117615220294442 0.00374606352917217 0.997288935304162 0.997538892133942 NA 0.0024611078660583 NA FALSE NA 0.012 0.659 . downstream_gene_variant MODIFIER HGS HGNC 4897 ENST00000573949 rs570372704 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGA G,A 8.238e-06 17:81704731 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 intron_variant 0.152116 0.15315 0.07087 0.119682 0.729101326040726 0.0647559 0.0501971389457513 FALSE 4.25586e-06 ENSE00001700147_006 ENSE00001700147 006 15 52487535 52487704 - 39 81 50 T C 52487561 957 144 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAGGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195363 52195364 52195364 downstr_intron 13 1.34210526315789 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAGGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant 33 20 0.85 0.85 0.85 29 29 0.8 0.8 0.8 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 -0.141751120756048 -0.131206034479505 -0.192741535354429 -0.0232851844611724 0.986478577617776 0.908013359907801 -0.136478577617776 -0.108013359907801 0.0284652177099757 FALSE FALSE 0 0.456 rs77458583 upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 rs77458583 1 C:0.0008 C:0 C:0 NA C:0.004 C:0 C:0 CTT T,C 0.0001242 15:52195364 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 intron_variant 0.155007 0.23008 0.04235 0.088506 0.641234943831109 0.0848097 4.34872218862826e-18 FALSE 0.000116316 ENSE00001700147_009 ENSE00001700147 009 15 52487535 52487704 - 39 81 50 T G 52487582 960 123 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCCAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195384 52195385 52195385 exon -9 0.901234567901235 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCCAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 29 213 1 1 1 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 NA NA 0.00725846464557101 0.176714815538828 0.986478577617776 0.908013359907801 NA 0.0919866400921993 NA FALSE NA 1 5.086 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA TTG T,G 8.276e-06 15:52195385 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 4.617834 0.99584 0.98647 0.732398 0.996538820579654 0 4.34872218862826e-18 FALSE 4.07657e-06 ENSE00001700147_010 ENSE00001700147 010 15 52487535 52487704 - 39 81 50 C T 52487584 961 121 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCACAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195386 52195387 52195387 exon -11 0.876543209876543 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCACAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 132 114 0.951373936076085 0.955060787760016 0.95321736191805 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 NA NA -0.0413675992783444 0.131775603298844 0.986478577617776 0.908013359907801 NA 0.0452040020102496 NA FALSE NA 1 6.028 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA GCG C,T 8.276e-06 15:52195387 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 8.207752 0.99683 0.98883 0.732398 0.999297768809071 0 4.34872218862826e-18 FALSE 1.63424e-05 ENSE00001700147_011 ENSE00001700147 011 15 52487535 52487704 - 39 81 50 G A 52487585 962 120 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTTGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195387 52195388 52195388 exon -12 0.864197530864197 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTTGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant 156 174 0.85 0.85 0.85 NA NA NA NA NA 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 -0.141751120756048 -0.131206034479505 NA NA 0.986478577617776 0.908013359907801 -0.136478577617776 NA NA NA FALSE 1 6.54 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 COSM3502138 1 NA CGA G,A 1.655e-05 15:52195388 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 8.324102 0.99705 0.98891 0.732398 0.999019455730833 0 4.34872218862826e-18 FALSE 1.22399e-05 ENSE00001700147_013 ENSE00001700147 013 15 52487535 52487704 - 39 81 50 C G 52487605 964 100 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGACAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195407 52195408 52195408 exon -32 0.617283950617284 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGACAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 36 38 0.974644730808687 1 0.987322365404343 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 NA NA -0.0180968045457423 0.176714815538828 0.986478577617776 0.908013359907801 NA 0.0793090054965426 NA FALSE NA 1 7.82 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA TCT C,G 1.655e-05 15:52195408 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 6.935757 0.99622 0.99243 0.732398 0.989388594148452 0 4.34872218862826e-18 FALSE 8.14505e-06 ENSE00001700147_014 ENSE00001700147 014 15 52487535 52487704 - 39 81 50 C G 52487607 965 98 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAACAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195409 52195410 52195410 exon -34 0.592592592592593 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAACAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant 61 61 0 0 0 133 57 0 0 0 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 -0.991751120756048 -0.981206034479505 -0.992741535354429 -0.823285184461172 0.986478577617776 0.908013359907801 -0.986478577617776 -0.908013359907801 0.0784652177099755 TRUE TRUE 1 1.676 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 rs376566491 1 NA G:0.0005 G:0 TCT C,G 1.655e-05 15:52195410 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 6.003959 0.98191 0.89539 0.732398 0.998081921947138 0 4.34872218862826e-18 FALSE 1.62882e-05 ENSE00001700147_015 ENSE00001700147 015 15 52487535 52487704 - 39 81 50 T G 52487608 966 97 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGACGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195410 52195411 52195411 exon -35 0.580246913580247 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGACGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant 25 16 0.85 0.85 0.85 NA NA NA NA NA 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 -0.141751120756048 -0.131206034479505 NA NA 0.986478577617776 0.908013359907801 -0.136478577617776 NA NA NA FALSE 1 8.042 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA CTT T,G 8.276e-06 15:52195411 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 6.537227 0.99467 0.99084 0.732398 0.997809101420516 0 4.34872218862826e-18 FALSE 4.07216e-06 ENSE00001700147_016 ENSE00001700147 016 15 52487535 52487704 - 39 81 50 G A 52487631 967 74 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATATACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195433 52195434 52195434 exon 24 0.296296296296296 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATATACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 165 335 0.966305667293342 0.985633926226852 0.975969796760097 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 NA NA -0.0264358680610871 0.16234874176568 0.986478577617776 0.908013359907801 NA 0.0679564368522963 NA FALSE NA 1 4.948 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA TGT G,A 3.311e-05 15:52195434 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 synonymous_variant 0.312577 0.99085 0.97437 0.732398 0.758463667834805 0 4.34872218862826e-18 FALSE 1.63156e-05 ENSE00001700147_017 ENSE00001700147 017 15 52487535 52487704 - 39 81 50 A T 52487633 968 72 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCAAACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195435 52195436 52195436 exon 22 0.271604938271605 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCAAACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 551 757 0.98808651207583 0.992137060185005 0.990111786130418 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 NA NA -0.00465502327859935 0.168851875723833 0.986478577617776 0.908013359907801 NA 0.0820984262226168 NA FALSE NA 1 9.343 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA TAT A,T 8.276e-06 15:52195436 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 6.728369 0.99478 0.99378 0.732398 0.99089614669913 0 4.34872218862826e-18 FALSE 4.07817e-06 ENSE00001700147_018 ENSE00001700147 018 15 52487535 52487704 - 39 81 50 G A 52487635 969 70 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTTATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195437 52195438 52195438 exon 20 0.246913580246914 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTTATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant 14 130 0.85 0.85 0.85 59 378 0.962312036136997 0.965451994955161 0.963882015546079 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 -0.141751120756048 -0.131206034479505 -0.030429499217432 0.142166810493989 0.986478577617776 0.908013359907801 -0.136478577617776 0.0558686556382785 0.192347233256055 FALSE FALSE 1 2.965 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA TGA G,A 8.277e-06 15:52195438 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 2.469358 0.9877 0.93726 0.732398 0.821229538399638 0 4.34872218862826e-18 FALSE 4.08777e-06 ENSE00001700147_019 ENSE00001700147 019 15 52487535 52487704 - 39 81 50 T C 52487651 970 54 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCGTAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195453 52195454 52195454 exon 4 0.0493827160493827 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCGTAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 267 78 0.980630765237408 1 0.990315382618704 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 NA NA -0.0121107701170208 0.176714815538828 0.986478577617776 0.908013359907801 NA 0.0823020227109034 NA FALSE NA 1 3.342 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA ATG T,C 2.483e-05 15:52195454 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 missense_variant 0.554673 0.98213 0.76581 0.732398 0.789248975132992 0 4.34872218862826e-18 FALSE 2.05224e-05 ENSE00001700147_026 ENSE00001700147 026 15 52487535 52487704 - 39 81 50 G C 52487676 977 29 CAGAGTTATTATTTTGCATGGTCTAACAGCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195478 52195479 52195479 upstr_intron -22 -0.42 CAGAGTTATTATTTTGCATGGTCTAACAGCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 206 66 0.996553534682155 0.8 0.898276767341078 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 NA NA 0.00381199932772602 -0.0232851844611724 0.986478577617776 0.908013359907801 NA -0.00973659256672321 NA FALSE NA 0 0.119 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA GGT G,C 8.277e-06 15:52195479 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 intron_variant -0.092939 0.31735 0.13138 0.106106 0.501799767733422 0.091631 4.34872218862826e-18 FALSE 9.16145e-06 ENSE00001700147_028 ENSE00001700147 028 15 52487535 52487704 - 39 81 50 C T 52487684 979 21 CAGAGTTATTATTTTGCATGATCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195486 52195487 52195487 upstr_intron -30 -0.58 CAGAGTTATTATTTTGCATGATCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant 29 16 0.962130632565628 0.85 0.906065316282814 NA NA NA NA NA 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 -0.0296204881904194 -0.131206034479505 NA NA 0.986478577617776 0.908013359907801 -0.0804132613349622 NA NA NA FALSE 0 0.966 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 rs369104497 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0008 T:0 ACC C,T 1.656e-05 15:52195487 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 intron_variant 0.3992 0.23747 0.04353 0.106106 0.625612383571394 0.091631 4.34872218862826e-18 FALSE 1.89356e-05 ENSE00001700147_029 ENSE00001700147 029 15 52487535 52487704 - 39 81 50 T C 52487687 980 18 CAGAGTTATTATTTTGCGTGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 52195489 52195490 52195490 upstr_intron -33 -0.64 CAGAGTTATTATTTTGCGTGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 852 374 0.999771731795685 1 0.999885865897842 0.991751120756048 0.981206034479505 0.992741535354429 0.823285184461172 NA NA 0.00703019644125558 0.176714815538828 0.986478577617776 0.908013359907801 NA 0.0918725059900415 NA FALSE NA 0 -0.934 . upstream_gene_variant MODIFIER GNB5 HGNC 4401 ENST00000560075 1 NA ATG T,C 2.483e-05 15:52195490 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 intron_variant 0.191545 0.17487 0.01982 0.106106 0.653408825113357 0.091631 4.34872218862826e-18 FALSE 1.48179e-05 ENSE00001803532_002 ENSE00001803532 002 3 50380941 50381110 - 53 54 63 G A 50380965 1288 146 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCATAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343533 50343534 50343534 downstr_intron 29 1.55769230769231 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCATAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 552 122 0.991865435088077 0.981940451303015 0.986902943195546 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA 0.0128892236006833 0.0291129251668659 0.993615576422817 0.965901868811772 NA 0.0210010743837746 NA FALSE NA 0 0.063 . downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 rs371800180 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0014 A:0 TGT G,A 0.00014 3:50343534 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 intron_variant -0.130982 0.19292 0.07394 0.095506 0.586961365770074 0.0892613 3.60239883453688e-07 FALSE 9.75039e-05 ENSE00001803532_004 ENSE00001803532 004 3 50380941 50381110 - 53 54 63 G A 50380985 1290 126 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGATTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343553 50343554 50343554 downstr_intron 9 1.17307692307692 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGATTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 553 81 0.993530188877116 1 0.996765094438558 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA 0.0145539773897221 0.0471724738638507 0.993615576422817 0.965901868811772 NA 0.0308632256267864 NA FALSE NA 0 -0.626 . downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 1 NA AGT G,A 8.236e-06 3:50343554 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 intron_variant 0.829727 0.18639 0.02039 0.095506 0.688921537332903 0.244867 3.60239883453688e-07 FALSE 4.06293e-06 ENSE00001803532_007 ENSE00001803532 007 3 50380941 50381110 - 53 54 63 T A 50381009 1293 102 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACTGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343577 50343578 50343578 exon -16 0.722222222222222 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACTGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 52 16 0.946626786682082 1 0.973313393341041 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA -0.0323494248053124 0.0471724738638507 0.993615576422817 0.965901868811772 NA 0.00741152452926913 NA FALSE NA 0.005 -1.414 . downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 1 NA CTG T,A 8.236e-06 3:50343578 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 synonymous_variant 0.912406 0.91329 0.16241 0.549168 0.700490471007736 0 3.60239883453688e-07 FALSE 4.06326e-06 ENSE00001803532_009 ENSE00001803532 009 3 50380941 50381110 - 53 54 63 A T 50381032 1295 79 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCACCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343600 50343601 50343601 exon 16 0.296296296296296 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCACCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 79 46 0.999477903454022 1 0.999738951727011 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA 0.0205016919666277 0.0471724738638507 0.993615576422817 0.965901868811772 NA 0.0338370829152392 NA FALSE NA 1 6.531 rs149180464 downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 rs149180464 1 NA T:0.0002 T:0 GAG A,T 8.236e-06 3:50343601 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 missense_variant 0.505891 0.98452 0.91695 0.549168 0.875052608259438 0 3.60239883453688e-07 FALSE 4.06279e-06 ENSE00001803532_013 ENSE00001803532 013 3 50380941 50381110 - 53 54 63 T G 50381043 1299 68 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCCCCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343611 50343612 50343612 exon 5 0.0925925925925926 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCCCCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 530 255 0.804939605615692 0.800990822484128 0.80296521404991 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA -0.174036605871702 -0.151836703652021 0.993615576422817 0.965901868811772 NA -0.162936654761862 NA FALSE NA 1 3.088 . downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 1 NA GTG T,G 8.236e-06 3:50343612 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 missense_variant 4.094514 0.98752 0.97161 0.549168 0.983747758776735 0 3.60239883453688e-07 FALSE 4.0623e-06 ENSE00001803532_014 ENSE00001803532 014 3 50380941 50381110 - 53 54 63 C A 50381045 1300 66 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTTCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343613 50343614 50343614 exon 3 0.0555555555555556 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTTCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 993 39 0.998453180612145 1 0.999226590306072 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA 0.0194769691247506 0.0471724738638507 0.993615576422817 0.965901868811772 NA 0.0333247214943007 NA FALSE NA 0.322 -0.434 . downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 1 NA GCA C,A 8.236e-06 3:50343614 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 splice_region_variant 0.831678 0.93391 0.32814 0.549168 0.651138694662878 0 3.60239883453688e-07 FALSE 4.0622e-06 ENSE00001803532_015 ENSE00001803532 015 3 50380941 50381110 - 53 54 63 A G 50381046 1301 65 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGCGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343614 50343615 50343615 exon 2 0.037037037037037 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGCGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 193 150 0.938686645306623 0.945439906901552 0.942063276104087 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA -0.0402895661807713 -0.00738761923459763 0.993615576422817 0.965901868811772 NA -0.0238385927076845 NA FALSE NA 1 7.008 . downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 1 NA CAC A,G 4.118e-05 3:50343615 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 missense_variant 1.356984 0.98756 0.97672 0.549168 0.980394014498619 0 3.60239883453688e-07 FALSE 2.43726e-05 ENSE00001803532_016 ENSE00001803532 016 3 50380941 50381110 - 53 54 63 C T 50381047 1302 64 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGATGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343615 50343616 50343616 exon 1 0.0185185185185185 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGATGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 278 151 0.966245991896855 0.994794698826863 0.980520345361859 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA -0.0127302195905388 0.0419671726907141 0.993615576422817 0.965901868811772 NA 0.0146184765500877 NA FALSE NA 1 1.211 . downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 1 NA ACC C,T 8.236e-06 3:50343616 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 missense_variant 1.464199 0.97179 0.71612 0.549168 0.980425831266924 0 3.60239883453688e-07 FALSE 4.06213e-06 ENSE00001803532_017 ENSE00001803532 017 3 50380941 50381110 - 53 54 63 A G 50381053 1303 58 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCCGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343621 50343622 50343622 upstr_intron -6 -0.0793650793650794 CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCCGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 33 1549 1 0.997403227259762 0.998701613629881 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA 0.0210237885126059 0.0445757011236123 0.993615576422817 0.965901868811772 NA 0.0327997448181091 NA FALSE NA 0.048 1.723 rs114377074 downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 rs114377074 1 G:0.0118 G:0.0408 G:0.0072 NA G:0 G:0 G:0 G:0.0447 G:0.0001 CAG A,G 0.004234 3:50343622 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 splice_region_variant -0.469342 0.31285 0.21964 0.078448 0.557201707705052 0.242701 3.60239883453688e-07 FALSE 0.00317656 ENSE00001803532_020 ENSE00001803532 020 3 50380941 50381110 - 53 54 63 C T 50381095 1306 16 CGGGGAGGAGAGCTGATAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 50343663 50343664 50343664 upstr_intron -48 -0.746031746031746 CGGGGAGGAGAGCTGATAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG mutant NA NA NA NA NA 123 208 0.978827960679713 0.989889880000605 0.984358920340159 0.999423268122769 0.987807884722866 0.978976211487394 0.952827526136149 NA NA -0.000148250807680883 0.0370623538644553 0.993615576422817 0.965901868811772 NA 0.0184570515283872 NA FALSE NA 0.001 1.631 . downstream_gene_variant MODIFIER NPRL2 HGNC 24969 ENST00000479512 1 NA ACC C,T 8.236e-06 3:50343664 ZMYND10 HGNC Symbol protein_coding 5742 ENSG00000004838 ENSE00003609236 intron_variant -0.33813 0.2296 0.13269 0.078448 0.575178621846735 0.0518593 3.60239883453688e-07 FALSE NA ENSE00002108329_002 ENSE00002108329 002 6 33264771 33264940 - 38 84 48 G A 33264796 937 145 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGATTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 33297018 33297019 33297019 downstr_intron 13 1.35135135135135 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGATTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC mutant NA NA NA NA NA 49 190 0.997452820292513 0.988855964392209 0.993154392342361 0.896132512407173 0.85 0.968977419130356 0.963848654530903 NA NA 0.0284754011621569 0.0250073098613067 0.873066256203586 0.966413036830629 NA 0.0267413555117318 NA FALSE NA 0 0.266 . downstream_gene_variant MODIFIER TAPBP HGNC 11566 ENST00000489157 rs200870172 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0039 A:0 AGT G,A 0.000313 6:33297019 RGL2 HGNC Symbol protein_coding 7670 ENSG00000237441 ENSE00003583582 3_prime_UTR_variant 0.684853 0.28484 0.15211 0.322412 0.833376379974896 0.230272 0.0747682997961984 FALSE 0.000242326 ENSE00002108329_003 ENSE00002108329 003 6 33264771 33264940 - 38 84 48 A C 33264810 938 131 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTGGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 33297032 33297033 33297033 exon -2 0.988095238095238 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTGGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC mutant NA NA NA NA NA 247 203 0.998321855364312 0.990673034399957 0.994497444882134 0.896132512407173 0.85 0.968977419130356 0.963848654530903 NA NA 0.0293444362339552 0.0268243798690544 0.873066256203586 0.966413036830629 NA 0.0280844080515048 NA FALSE NA 0.546 -0.059 rs139385178 downstream_gene_variant MODIFIER TAPBP HGNC 11566 ENST00000489157 rs139385178 1 NA C:0 C:0.0002 CAA A,C 0.0001813 6:33297033 RGL2 HGNC Symbol protein_coding 7670 ENSG00000237441 ENSE00003583582 missense_variant 1.141271 0.85091 0.67889 0.660085 0.928997414650482 0 0.0747682997961984 FALSE 0.000256497 ENSE00002108329_004 ENSE00002108329 004 6 33264771 33264940 - 38 84 48 T C 33264830 939 111 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAGTATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 33297052 33297053 33297053 exon -22 0.75 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAGTATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC mutant NA NA NA NA NA 366 160 0.986808389264597 1 0.993404194632298 0.896132512407173 0.85 0.968977419130356 0.963848654530903 NA NA 0.0178309701342407 0.0361513454690974 0.873066256203586 0.966413036830629 NA 0.0269911578016691 NA FALSE NA 0.958 -0.153 . downstream_gene_variant MODIFIER TAPBP HGNC 11566 ENST00000489157 1 NA ATT T,C 8.245e-06 6:33297053 RGL2 HGNC Symbol protein_coding 7670 ENSG00000237441 ENSE00003583582 synonymous_variant -0.961908 0.80202 0.24237 0.660085 0.664314586485528 0 0.0747682997961984 FALSE 4.71658e-06 ENSE00002108329_007 ENSE00002108329 007 6 33264771 33264940 - 38 84 48 G A 33264845 942 96 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACTGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 33297067 33297068 33297068 exon -37 0.571428571428571 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACTGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC mutant NA NA NA NA NA 700 63 0.801610156373831 0.823054623074382 0.812332389724106 0.896132512407173 0.85 0.968977419130356 0.963848654530903 NA NA -0.167367262756525 -0.140794031456521 0.873066256203586 0.966413036830629 NA -0.154080647106523 NA FALSE NA 0.965 0.005 rs35149921 downstream_gene_variant MODIFIER TAPBP HGNC 11566 ENST00000489157 rs35149921 1 A:0.0108 A:0.0363 A:0.0072 NA A:0 A:0.001 A:0 A:0.0415 A:0.0002 CGG G,A 0.003959 6:33297068 RGL2 HGNC Symbol protein_coding 7670 ENSG00000237441 ENSE00003583582 synonymous_variant 0.874525 0.8269 0.16169 0.660085 0.871935439114871 0 0.0747682997961984 FALSE 0.00345375 ENSE00002108329_008 ENSE00002108329 008 6 33264771 33264940 - 38 84 48 T C 33264847 943 94 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTGCCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 33297069 33297070 33297070 exon -39 0.547619047619048 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTGCCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC mutant NA NA NA NA NA 174 127 1 1 1 0.896132512407173 0.85 0.968977419130356 0.963848654530903 NA NA 0.0310225808696437 0.0361513454690974 0.873066256203586 0.966413036830629 NA 0.0335869631693705 NA FALSE NA 1 2.679 . downstream_gene_variant MODIFIER TAPBP HGNC 11566 ENST00000489157 1 NA GTA T,C 8.248e-06 6:33297070 RGL2 HGNC Symbol protein_coding 7670 ENSG00000237441 ENSE00003583582 missense_variant 0.577983 0.89912 0.66439 0.660085 0.917064408309148 0 0.0747682997961984 FALSE 4.82705e-06 ENSE00002108329_010 ENSE00002108329 010 6 33264771 33264940 - 38 84 48 C T 33264862 945 79 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGAATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 33297084 33297085 33297085 exon 31 0.369047619047619 TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGAATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC mutant NA NA NA NA NA 672 55 0.975943696208493 0.848222356000416 0.912083026104455 0.896132512407173 0.85 0.968977419130356 0.963848654530903 NA NA 0.00696627707813691 -0.115626298530486 0.873066256203586 0.966413036830629 NA -0.0543300107261747 NA FALSE NA 1 1.749 . downstream_gene_variant MODIFIER TAPBP HGNC 11566 ENST00000489157 1 NA TCC C,T 1.651e-05 6:33297085 RGL2 HGNC Symbol protein_coding 7670 ENSG00000237441 ENSE00003583582 missense_variant 3.231398 0.89187 0.62595 0.660085 0.995107521216251 0 0.0747682997961984 FALSE 9.95649e-06 ENSE00002108329_016 ENSE00002108329 016 6 33264771 33264940 - 38 84 48 G A 33264911 951 30 TGGGGGGTGGTGTGGAACTGTCTGACTTCTCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 33297133 33297134 33297134 upstr_intron -19 -0.375 TGGGGGGTGGTGTGGAACTGTCTGACTTCTCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC mutant NA NA NA NA NA 85 194 1 1 1 0.896132512407173 0.85 0.968977419130356 0.963848654530903 NA NA 0.0310225808696437 0.0361513454690974 0.873066256203586 0.966413036830629 NA 0.0335869631693705 NA FALSE NA 0.955 1.018 . downstream_gene_variant MODIFIER TAPBP HGNC 11566 ENST00000489157 1 NA GGG G,A 8.351e-06 6:33297134 RGL2 HGNC Symbol protein_coding 7670 ENSG00000237441 ENSE00003583582 3_prime_UTR_variant 2.082343 0.90387 0.65844 0.110006 0.919249786437944 0.961871 0.0747682997961984 FALSE 0 ENSE00002108329_017 ENSE00002108329 017 6 33264771 33264940 - 38 84 48 C T 33264929 952 12 TGGGGGGTGGTATGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 33297151 33297152 33297152 upstr_intron -37 -0.75 TGGGGGGTGGTATGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC mutant NA NA NA NA NA 29 134 0.967673881543497 0.980918881006286 0.974296381274892 0.896132512407173 0.85 0.968977419130356 0.963848654530903 NA NA -0.00130353758685886 0.0170702264753838 0.873066256203586 0.966413036830629 NA 0.00788334444426247 NA FALSE NA 0 -0.215 . downstream_gene_variant MODIFIER TAPBP HGNC 11566 ENST00000489157 1 NA ACA C,T 8.412e-06 6:33297152 RGL2 HGNC Symbol protein_coding 7670 ENSG00000237441 ENSE00003583582 3_prime_UTR_variant -1.153109 0.15148 0.05876 0.110006 0.595472863716249 0.0883755 0.0747682997961984 FALSE 5.79012e-06 ENSE00002350434_001 ENSE00002350434 001 1 160519659 160519828 - 48 63 59 G A 160519669 3970 160 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAATTCTTCCAGCC 160549868 160550038 160549878 160549879 160549879 downstr_intron 38 1.80851063829787 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAATTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 527 935 0.999921884114964 0.985058997150835 0.9924904406329 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.207972163168972 0.0522609294174314 0.93401573145193 0.862373894339698 NA 0.130116546293202 NA FALSE NA 0 -1.929 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA AGT G,A 8.236e-06 1:160549879 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant 0.23384 0.2154 0.0352 0.120541 0.643535070244159 0.0649745 0.000390056564945539 FALSE 4.07087e-06 ENSE00002350434_002 ENSE00002350434 002 1 160519659 160519828 - 48 63 59 G T 160519673 3971 156 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCATAACTCTTCCAGCC 160549868 160550038 160549882 160549883 160549883 downstr_intron 34 1.72340425531915 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCATAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 551 383 0.994416877899398 0.99391352499706 0.994165201448229 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.202467156953406 0.0611154572636557 0.93401573145193 0.862373894339698 NA 0.131791307108531 NA FALSE NA 0 0.068 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA AGG G,T 8.236e-06 1:160549883 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant 0.118719 0.19439 0.04198 0.120541 0.708319568834891 0.0649745 0.000390056564945539 FALSE NA ENSE00002350434_003 ENSE00002350434 003 1 160519659 160519828 - 48 63 59 G C 160519678 3972 151 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGGTTTCCTAACTCTTCCAGCC 160549868 160550038 160549887 160549888 160549888 downstr_intron 29 1.61702127659574 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGGTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 404 309 0.845308288916437 0.982807133716114 0.914057711316275 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.0533585679704449 0.0500090659827103 0.93401573145193 0.862373894339698 NA 0.0516838169765776 NA FALSE NA 0 -0.167 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA AGC G,C 4.942e-05 1:160549888 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant -0.209323 0.23298 0.03264 0.120541 0.698838854092823 0.0640637 0.000390056564945539 FALSE 2.84713e-05 ENSE00002350434_006 ENSE00002350434 006 1 160519659 160519828 - 48 63 59 C T 160519692 3975 137 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGACTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549901 160549902 160549902 downstr_intron 15 1.31914893617021 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGACTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 1091 1112 0.997983471719683 0.992135038631545 0.995059255175614 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.206033750773691 0.0593369708981415 0.93401573145193 0.862373894339698 NA 0.132685360835916 NA FALSE NA 0.001 0.376 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA GCC C,T 8.236e-06 1:160549902 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant 0.444461 0.17965 0.01205 0.101703 0.7921255555856 0.0641242 0.000390056564945539 FALSE 4.06458e-06 ENSE00002350434_009 ENSE00002350434 009 1 160519659 160519828 - 48 63 59 G A 160519699 3978 130 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCTTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549908 160549909 160549909 downstr_intron 8 1.17021276595745 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCTTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 483 343 0.999658686208401 0.994252245168347 0.996955465688374 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.207708965262409 0.0614541774349434 0.93401573145193 0.862373894339698 NA 0.134581571348676 NA FALSE NA 0 -0.051 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 rs376866040 1 NA A:0.0002 A:0 AGG G,A 8.237e-06 1:160549909 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 splice_region_variant 0.442355 0.24981 0.0197 0.120541 0.686388512687096 0.580046 0.000390056564945539 FALSE 8.12599e-06 ENSE00002350434_010 ENSE00002350434 010 1 160519659 160519828 - 48 63 59 C A 160519722 3979 107 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTTCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549931 160549932 160549932 exon -16 0.761904761904762 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTTCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant 28 33 0.85 0.85 0.85 54 179 0.990480538695677 0.978591522095893 0.984536030395785 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 -0.126793344977743 -0.0412381179261159 0.198530817749685 0.0457934543624894 0.93401573145193 0.862373894339698 -0.0840157314519296 0.122162136056087 0.206177867508017 FALSE FALSE 0.996 1.695 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA GCA C,A 8.236e-06 1:160549932 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 missense_variant 0.987062 0.8961 0.63264 0.50284 0.87764768353376 0 0.000390056564945539 FALSE NA ENSE00002350434_011 ENSE00002350434 011 1 160519659 160519828 - 48 63 59 A C 160519723 3980 106 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGGGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549932 160549933 160549933 exon -17 0.746031746031746 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGGGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 36 107 0.95 0.957688076949644 0.953844038474822 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.158050279054008 0.0248900092162399 0.93401573145193 0.862373894339698 NA 0.091470144135124 NA FALSE NA 0.988 3.86 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA CAC A,C 8.236e-06 1:160549933 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 missense_variant 4.302502 0.90424 0.76383 0.50284 0.643041230265531 0 0.000390056564945539 FALSE 2.03089e-05 ENSE00002350434_012 ENSE00002350434 012 1 160519659 160519828 - 48 63 59 C T 160519724 3981 105 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAATGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549933 160549934 160549934 exon -18 0.73015873015873 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAATGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 730 12 0.925385500931252 0.95 0.937692750465626 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.13343577998526 0.0172019322665962 0.93401573145193 0.862373894339698 NA 0.0753188561259281 NA FALSE NA 0.088 0.02 rs141238057 upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 rs141238057 1 NA T:0.0007 T:0 ACT C,T 3.295e-05 1:160549934 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 missense_variant 2.125559 0.28332 0.04643 0.50284 0.588275537537764 0 0.000390056564945539 FALSE 1.62475e-05 ENSE00002350434_013 ENSE00002350434 013 1 160519659 160519828 - 48 63 59 C T 160519727 3982 102 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCAAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549936 160549937 160549937 exon -21 0.682539682539683 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCAAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 2026 1304 0.833727785599911 0.814933113967303 0.824330449783607 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.0417780646539191 -0.117864953766101 0.93401573145193 0.862373894339698 NA -0.0380434445560909 NA FALSE NA 0.08 0.382 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA TCG C,T 8.236e-06 1:160549937 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 missense_variant 1.328229 0.15925 0.00167 0.730579 0.745155296154358 0 0.000390056564945539 FALSE 8.12433e-06 ENSE00002350434_014 ENSE00002350434 014 1 160519659 160519828 - 48 63 59 G A 160519728 3983 101 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCTGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549937 160549938 160549938 exon -22 0.666666666666667 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCTGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 204 447 0.95 0.99858211848847 0.974291059244235 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.158050279054008 0.0657840507550659 0.93401573145193 0.862373894339698 NA 0.111917164904537 NA FALSE NA 0.181 0.405 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 rs200129612&COSM898319&COSM3355964 1 NA A:0 A:0.0002 CGG G,A 0.000313 1:160549938 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 stop_gained 0.936248 0.39491 0.11119 0.730579 0.987555606946267 0 0.000390056564945539 FALSE 0.000292483 ENSE00002350434_018 ENSE00002350434 018 1 160519659 160519828 - 48 63 59 T C 160519786 3987 43 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAGGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549995 160549996 160549996 upstr_intron -17 -0.271186440677966 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAGGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 841 547 0.989303687609141 0.997455354079464 0.993379520844303 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.197353966663149 0.0646572863460604 0.93401573145193 0.862373894339698 NA 0.131005626504605 NA FALSE NA 0.001 0.142 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA CTT T,C 1.647e-05 1:160549996 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant -0.058739 0.19658 0.04559 0.101703 0.669630771724536 0.0733859 0.000390056564945539 FALSE 1.22589e-05 ENSE00002350434_019 ENSE00002350434 019 1 160519659 160519828 - 48 63 59 C G 160519791 3988 38 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGACGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160550000 160550001 160550001 upstr_intron -22 -0.355932203389831 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGACGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 405 443 1 1 1 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.208050279054008 0.0672019322665962 0.93401573145193 0.862373894339698 NA 0.137626105660302 NA FALSE NA 0 -0.755 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA CCT C,G 8.237e-06 1:160550001 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant 0.200968 0.21355 0.0495 0.101703 0.652829282092789 0.0733859 0.000390056564945539 FALSE 4.09839e-06 ENSE00002350434_020 ENSE00002350434 020 1 160519659 160519828 - 48 63 59 G T 160519795 3989 34 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCAATGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160550004 160550005 160550005 upstr_intron -26 -0.423728813559322 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCAATGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant 370 497 0.848517157234451 0.794955516306271 0.821736336770361 656 1298 0.826595530940943 0.843305920853266 0.834950725897105 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 -0.128276187743292 -0.0962826016198446 0.0346458099949511 -0.0894921468801376 0.93401573145193 0.862373894339698 -0.112279394681568 -0.0274231684425932 0.0848562262389752 FALSE FALSE 0.018 1.036 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA AGT G,T 8.238e-06 1:160550005 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant 0.315412 0.46759 0.0863 0.101703 0.633779209479755 0.923224 0.000390056564945539 FALSE NA ENSE00002350434_021 ENSE00002350434 021 1 160519659 160519828 - 48 63 59 C T 160519804 3990 25 AAGGGGACTTGTAGATGGGCCTGGACTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160550013 160550014 160550014 upstr_intron -35 -0.576271186440678 AAGGGGACTTGTAGATGGGCCTGGACTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 434 530 0.990358877171958 0.950617902134376 0.970488389653167 0.976793344977743 0.891238117926116 0.791949720945992 0.932798067733404 NA NA 0.198409156225966 0.017819834400972 0.93401573145193 0.862373894339698 NA 0.108114495313469 NA FALSE NA 0 0.357 . upstream_gene_variant MODIFIER AL138930.2 Clone_based_ensembl_gene NA ENST00000577282 1 NA GCC C,T 9.008e-06 1:160550014 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant 0.358309 0.21059 0.04564 0.101703 0.313485647794617 0.0732302 0.000390056564945539 FALSE NA ENSE00002350538_001 ENSE00002350538 001 5 131307211 131307380 - 32 96 42 G A 131307221 1162 160 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCTCTTGGAAACA 131971517 131971687 131971527 131971528 131971528 downstr_intron 22 1.70967741935484 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCTCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 213 226 0.998248032350288 0.814486007982783 0.906367020166536 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.106544929290697 -0.0680546590219001 0.985352798564187 0.887121885032137 NA 0.0192451351343985 NA FALSE NA 0 -1.399 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 rs376160246 1 NA A:0.0005 A:0 GGG G,A 4.119e-05 5:131971528 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 intron_variant 0.218528 0.15955 0.01443 0.078448 0.498121548532608 0.162874 0.088562272207543 FALSE 2.70173e-05 ENSE00002350538_002 ENSE00002350538 002 5 131307211 131307380 - 32 96 42 A T 131307223 1163 158 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCACCCTTGGAAACA 131971517 131971687 131971529 131971530 131971530 downstr_intron 20 1.64516129032258 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCACCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 122 432 0.986434148274681 0.988688656906506 0.987561402590594 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.0947310452150906 0.106147989901822 0.985352798564187 0.887121885032137 NA 0.100439517558456 NA FALSE NA 0.104 0.812 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 rs570623305 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GAG A,T 8.238e-06 5:131971530 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 intron_variant 0.025578 0.2329 0.16385 0.078448 0.698806573894985 0.162874 0.088562272207543 FALSE 4.46867e-06 ENSE00002350538_003 ENSE00002350538 003 5 131307211 131307380 - 32 96 42 T C 131307234 1164 147 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCGTTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971540 131971541 131971541 downstr_intron 9 1.29032258064516 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCGTTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 22 640 0.849510722505558 1 0.924755361252779 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA -0.042192380554033 0.117459332995317 0.985352798564187 0.887121885032137 NA 0.0376334762206418 NA FALSE NA 0.003 -0.176 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA ATG T,C 8.237e-06 5:131971541 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 intron_variant 0.539309 0.15989 0.03512 0.078448 0.637552710137715 0.0851235 0.088562272207543 FALSE 8.62627e-06 ENSE00002350538_005 ENSE00002350538 005 5 131307211 131307380 - 32 96 42 G C 131307254 1166 127 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTGTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971560 131971561 131971561 exon -12 0.885416666666667 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTGTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 323 594 0.995188327174671 0.993533108608347 0.994360717891509 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.10348522411508 0.110992441603663 0.985352798564187 0.887121885032137 NA 0.107238832859371 NA FALSE NA 1 2.361 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA AGA G,C 1.647e-05 5:131971561 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 missense_variant 3.04401 0.9787 0.93763 0.615465 0.993838389134925 0 0.088562272207543 FALSE 1.24129e-05 ENSE00002350538_006 ENSE00002350538 006 5 131307211 131307380 - 32 96 42 C T 131307257 1167 124 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAACTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971563 131971564 131971564 exon -15 0.854166666666667 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAACTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 180 271 0.991957830544386 1 0.995978915272193 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.100254727484796 0.117459332995317 0.985352798564187 0.887121885032137 NA 0.108857030240056 NA FALSE NA 1 4.824 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA GCT C,T 8.237e-06 5:131971564 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 missense_variant 5.366076 0.99045 0.95676 0.615465 0.998149186340637 0 0.088562272207543 FALSE NA ENSE00002350538_007 ENSE00002350538 007 5 131307211 131307380 - 32 96 42 C T 131307262 1168 119 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCAGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971568 131971569 131971569 exon -20 0.802083333333333 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCAGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 12 63 0.95497328599649 0.993721198792129 0.97434724239431 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.0632701829368991 0.111180531787446 0.985352798564187 0.887121885032137 NA 0.0872253573621725 NA FALSE NA 1 7.752 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 COSM3849998&COSM3849999&COSM3849997 1 NA CCG C,T 8.237e-06 5:131971569 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 missense_variant 6.455039 0.99599 0.98563 0.615465 0.999419512512565 0 0.088562272207543 FALSE NA ENSE00002350538_008 ENSE00002350538 008 5 131307211 131307380 - 32 96 42 G A 131307263 1169 118 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCTGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971569 131971570 131971570 exon -21 0.791666666666667 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCTGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 36 29 0.807189961039454 0.86928803851552 0.838238999777487 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA -0.0845131420201372 -0.0132526284891638 0.985352798564187 0.887121885032137 NA -0.0488828852546505 NA FALSE NA 1 5.23 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA CGG G,A 3.295e-05 5:131971570 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 missense_variant 7.527668 0.98885 0.95535 0.615465 0.999236349298652 0 0.088562272207543 FALSE 1.64493e-05 ENSE00002350538_010 ENSE00002350538 010 5 131307211 131307380 - 32 96 42 T C 131307300 1171 81 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGGGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971606 131971607 131971607 exon 39 0.40625 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGGGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 338 173 0.8 0.8029150354714 0.8014575177357 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA -0.0917031030595907 -0.0796256315332831 0.985352798564187 0.887121885032137 NA -0.0856643672964369 NA FALSE NA 0.997 0.532 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA CTC T,C 8.237e-06 5:131971607 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 synonymous_variant 0.139565 0.97588 0.85983 0.615465 0.706263960371694 0 0.088562272207543 FALSE 4.09018e-06 ENSE00002350538_012 ENSE00002350538 012 5 131307211 131307380 - 32 96 42 A C 131307309 1173 72 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATGGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971615 131971616 131971616 exon 30 0.3125 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATGGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 184 49 1 1 1 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.108296896940409 0.117459332995317 0.985352798564187 0.887121885032137 NA 0.112878114967863 NA FALSE NA 0.007 -0.428 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA CAA A,C 8.237e-06 5:131971616 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 missense_variant 0.651402 0.96084 0.23075 0.615465 0.650415635690225 0 0.088562272207543 FALSE 4.09185e-06 ENSE00002350538_013 ENSE00002350538 013 5 131307211 131307380 - 32 96 42 C T 131307315 1174 66 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGAATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971621 131971622 131971622 exon 24 0.25 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGAATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 439 552 0.948505100230961 0.955824563731955 0.952164831981458 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.0568019971713706 0.0732838967272719 0.985352798564187 0.887121885032137 NA 0.0650429469493212 NA FALSE NA 0.221 -0.005 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA TCC C,T 8.237e-06 5:131971622 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 synonymous_variant 1.53333 0.97252 0.66456 0.615465 0.755908917116434 0 0.088562272207543 FALSE NA ENSE00002350538_015 ENSE00002350538 015 5 131307211 131307380 - 32 96 42 A G 131307347 1176 34 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCCTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971653 131971654 131971654 upstr_intron -9 -0.19047619047619 TCAGACATCACAAAATTTGGCAGCTCTTCTTTCCTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 23 237 1 0.89330755826066 0.94665377913033 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.108296896940409 0.010766891255977 0.985352798564187 0.887121885032137 NA 0.0595318940981931 NA FALSE NA 0 1.602 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 rs370498057 1 NA G:0.0002 G:0 AAG A,G 1.648e-05 5:131971654 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 intron_variant 1.625821 0.28176 0.06722 0.078448 0.770067398486222 0.145122 0.088562272207543 FALSE 2.60863e-05 ENSE00002350538_016 ENSE00002350538 016 5 131307211 131307380 - 32 96 42 G A 131307348 1177 33 TCAGACATCACAAAATTTGGCAGCTCTTCTTTTTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971654 131971655 131971655 upstr_intron -10 -0.214285714285714 TCAGACATCACAAAATTTGGCAGCTCTTCTTTTTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 75 408 0.995525879629952 0.993417555446905 0.994471717538428 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.103822776570361 0.110876888442221 0.985352798564187 0.887121885032137 NA 0.107349832506291 NA FALSE NA 0 0.64 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA AGA G,A 2.472e-05 5:131971655 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 intron_variant 1.620836 0.31064 0.13016 0.053691 0.685498895263064 0.149365 0.088562272207543 FALSE 3.47884e-05 ENSE00002350538_017 ENSE00002350538 017 5 131307211 131307380 - 32 96 42 A C 131307351 1178 30 TCAGACATCACAAAATTTGGCAGCTCTTCGTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971657 131971658 131971658 upstr_intron -13 -0.285714285714286 TCAGACATCACAAAATTTGGCAGCTCTTCGTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 35 400 0.8 0.688138026150336 0.744069013075168 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA -0.0917031030595907 -0.194402640854348 0.985352798564187 0.887121885032137 NA -0.143052871956969 NA FALSE NA 0.513 2.643 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 rs370573100 1 NA C:0 C:0.0001 AAG A,C 8.239e-06 5:131971658 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 intron_variant 0.138845 0.28968 0.81233 0.053691 0.703584771660248 0.135718 0.088562272207543 FALSE 4.39576e-06 ENSE00002350538_019 ENSE00002350538 019 5 131307211 131307380 - 32 96 42 C G 131307362 1180 19 TCAGACATCACAAAATTTCGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 131971668 131971669 131971669 upstr_intron -24 -0.547619047619048 TCAGACATCACAAAATTTCGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA mutant NA NA NA NA NA 636 317 0.991663961339817 0.999000879264821 0.995332420302319 0.998258412594446 0.972447184533929 0.891703103059591 0.882540667004683 NA NA 0.0999608582802265 0.116460212260137 0.985352798564187 0.887121885032137 NA 0.108210535270182 NA FALSE NA 0 0.082 . downstream_gene_variant MODIFIER AC034228.4 Clone_based_vega_gene NA ENST00000446275 1 NA CCA C,G 8.242e-06 5:131971669 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003782699 intron_variant 0.068032 0.25276 0.06905 0.053691 0.276503178017716 0.0840473 0.088562272207543 FALSE 4.67919e-06 ENSE00002363723_002 ENSE00002363723 002 6 30298516 30298685 + 42 96 32 T C 30298548 449 33 AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGCTCACCAGGCTTCTTCTCCTCAGAGGACTTGCAGCGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCTGCAGTTTTTCCTGAGGGGTGGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 30330770 30330771 30330771 upstr_intron -10 -0.214285714285714 AACCCCAAATGTCACCTCTCCCACTTCCTCCCCACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT mutant NA NA NA NA NA 14 30 1 1 1 0.987753664503957 0.989943230215551 0.915359670534001 0.870269313190323 NA NA 0.0846403294659992 0.129730686809677 0.988848447359754 0.892814491862162 NA 0.107185508137838 NA FALSE NA 0 -0.478 . upstream_gene_variant MODIFIER HCG18 HGNC 31337 ENST00000438412 rs199909699 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTA T,C 8.236e-06 6:30330771 TRIM39 HGNC Symbol protein_coding 17250 ENSG00000204599 ENSE00003490105 intron_variant -0.019047 0.10947 0.00501 0.156188 0.678039591522137 0.155716 0.999421097975261 TRUE 1.21941e-05 ENSE00002363723_003 ENSE00002363723 003 6 30298516 30298685 + 42 96 32 C T 30298550 450 35 AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGCTCACCAGGCTTCTTCTCCTCAGAGGACTTGCAGCGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCTGCAGTTTTTCCTGAGGGATAGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 30330772 30330773 30330773 upstr_intron -8 -0.166666666666667 AACCCCAAATGTCACCTCTCCCACTTCCTCCCTATCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT mutant NA NA NA NA NA 133 646 0.984747008561982 1 0.992373504280991 0.987753664503957 0.989943230215551 0.915359670534001 0.870269313190323 NA NA 0.0693873380279812 0.129730686809677 0.988848447359754 0.892814491862162 NA 0.0995590124188293 NA FALSE NA 0.001 -0.128 . upstream_gene_variant MODIFIER HCG18 HGNC 31337 ENST00000438412 rs373876740 1 NA T:0 T:0.0001 ACC C,T 1.647e-05 6:30330773 TRIM39 HGNC Symbol protein_coding 17250 ENSG00000204599 ENSE00003490105 splice_region_variant 0.123618 0.14673 0.10515 0.156188 0.568056462633545 0.160373 0.999421097975261 TRUE 8.12929e-06 ENSE00002363723_006 ENSE00002363723 006 6 30298516 30298685 + 42 96 32 A G 30298568 453 53 AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGCTCACCAGGCTTCTTCTCCTCAGAGGACTTGCAGCGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCCGCAGTTTTTCCTGAGGGGTAGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 30330790 30330791 30330791 exon 11 0.114583333333333 AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCGGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT mutant NA NA NA NA NA 120 463 1 0.998757447497905 0.999378723748952 0.987753664503957 0.989943230215551 0.915359670534001 0.870269313190323 NA NA 0.0846403294659992 0.128488134307582 0.988848447359754 0.892814491862162 NA 0.106564231886791 NA FALSE NA 1 5.004 . upstream_gene_variant MODIFIER HCG18 HGNC 31337 ENST00000438412 1 NA CAG A,G 8.236e-05 6:30330791 TRIM39 HGNC Symbol protein_coding 17250 ENSG00000204599 ENSE00003490105 missense_variant 2.670487 0.98491 0.96733 0.67177 0.998679596127539 0 0.999421097975261 TRUE 0.000105622 ENSE00002363723_009 ENSE00002363723 009 6 30298516 30298685 + 42 96 32 G A 30298613 456 98 AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGCTCACCAGGCTTCTTCTCCTCAGAGGACTTGCAGTGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCTGCAGTTTTTCCTGAGGGGTAGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 30330835 30330836 30330836 exon -41 0.583333333333333 AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCACTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT mutant NA NA NA NA NA 461 79 0.998333762617851 0.9979927648543 0.998163263736076 0.987753664503957 0.989943230215551 0.915359670534001 0.870269313190323 NA NA 0.0829740920838504 0.127723451663977 0.988848447359754 0.892814491862162 NA 0.105348771873914 NA FALSE NA 0.001 0.641 . upstream_gene_variant MODIFIER HCG18 HGNC 31337 ENST00000438412 rs377759954 1 NA A:0 A:0.0001 CGC G,A 8.236e-06 6:30330836 TRIM39 HGNC Symbol protein_coding 17250 ENSG00000204599 ENSE00003490105 missense_variant 4.330255 0.95135 0.1217 0.706548 0.99468028923226 0 0.999421097975261 TRUE 1.21881e-05 ENSE00002363723_011 ENSE00002363723 011 6 30298516 30298685 + 42 96 32 C T 30298625 458 110 AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGCTCACCAGGCTTCTTCTCCTCAAAGGACTTGCAGCGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCTGCAGTTTTTCCTGAGGGGTAGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 30330847 30330848 30330848 exon -29 0.708333333333333 AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTTTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT mutant NA NA NA NA NA 42 144 1 1 1 0.987753664503957 0.989943230215551 0.915359670534001 0.870269313190323 NA NA 0.0846403294659992 0.129730686809677 0.988848447359754 0.892814491862162 NA 0.107185508137838 NA FALSE NA 0.004 0.558 rs139957931 upstream_gene_variant MODIFIER HCG18 HGNC 31337 ENST00000438412 rs139957931 1 NA T:0 T:0.0003 TCT C,T 3.295e-05 6:30330848 TRIM39 HGNC Symbol protein_coding 17250 ENSG00000204599 ENSE00003490105 missense_variant 4.837656 0.98149 0.31861 0.706548 0.998342440665778 0 0.999421097975261 TRUE 6.09469e-05 ENSE00002363723_012 ENSE00002363723 012 6 30298516 30298685 + 42 96 32 G A 30298629 459 114 AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGCTCACCAGGCTTCTTCTCTTCAGAGGACTTGCAGCGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCTGCAGTTTTTCCTGAGGGGTAGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 30330851 30330852 30330852 exon -25 0.75 AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAAGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT mutant NA NA NA NA NA 270 144 0.993696949830404 0.97150811087879 0.982602530354597 0.987753664503957 0.989943230215551 0.915359670534001 0.870269313190323 NA NA 0.0783372792964033 0.101238797688467 0.988848447359754 0.892814491862162 NA 0.0897880384924352 NA FALSE NA 1 0.621 . upstream_gene_variant MODIFIER HCG18 HGNC 31337 ENST00000438412 1 NA AGG G,A 8.236e-06 6:30330852 TRIM39 HGNC Symbol protein_coding 17250 ENSG00000204599 ENSE00003490105 synonymous_variant 0.963492 0.95731 0.67472 0.706548 0.758580758371826 0 0.999421097975261 TRUE 4.06375e-06 ENSE00002363723_013 ENSE00002363723 013 6 30298516 30298685 + 42 96 32 A G 30298634 460 119 AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGCTCACCAGGCTTCCTCTCCTCAGAGGACTTGCAGCGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCTGCAGTTTTTCCTGAGGGGTAGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 30330856 30330857 30330857 exon -20 0.802083333333333 AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAGGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT mutant NA NA NA NA NA 231 97 1 1 1 0.987753664503957 0.989943230215551 0.915359670534001 0.870269313190323 NA NA 0.0846403294659992 0.129730686809677 0.988848447359754 0.892814491862162 NA 0.107185508137838 NA FALSE NA 1 1.764 . upstream_gene_variant MODIFIER HCG18 HGNC 31337 ENST00000438412 1 NA AAG A,G 8.237e-06 6:30330857 TRIM39 HGNC Symbol protein_coding 17250 ENSG00000204599 ENSE00003490105 missense_variant 2.153614 0.96792 0.81768 0.706548 0.98682550753353 0 0.999421097975261 TRUE NA ENSE00002363723_014 ENSE00002363723 014 6 30298516 30298685 + 42 96 32 G C 30298647 461 132 AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGGTCACCAGGCTTCTTCTCCTCAGAGGACTTGCAGCGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCTGCAGTTTTTCCTGAGGGGTAGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 30330869 30330870 30330870 exon -7 0.9375 AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGACCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT mutant NA NA NA NA NA 73 58 1 1 1 0.987753664503957 0.989943230215551 0.915359670534001 0.870269313190323 NA NA 0.0846403294659992 0.129730686809677 0.988848447359754 0.892814491862162 NA 0.107185508137838 NA FALSE NA 0.994 -0.001 . upstream_gene_variant MODIFIER HCG18 HGNC 31337 ENST00000438412 rs561536307 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 AGC G,C 4.118e-05 6:30330870 TRIM39 HGNC Symbol protein_coding 17250 ENSG00000204599 ENSE00003490105 missense_variant 3.406999 0.9467 0.81798 0.706548 0.997432806244938 0 0.999421097975261 TRUE 3.25441e-05 ENSE00002418231_001 ENSE00002418231 001 17 26686293 26686462 + 45 90 35 A G 26686306 1066 14 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGACATTCCCAGCTTGT 28359269 28359439 28359282 28359283 28359283 upstr_intron -32 -0.688888888888889 ACAAGCTGGGAATGTCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 733 143 0.999211324529548 1 0.999605662264774 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00650621309177557 0.132563174755651 0.996877200098902 0.93007096834106 NA 0.0695346939237135 NA FALSE NA 0 -2.199 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA TAT A,G 1.647e-05 17:28359283 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 non_coding_transcript_exon_variant 1.343261 0.14417 0.0079 0.156188 0.72822134676404 0.393516 0.000653685320091756 FALSE 8.14704e-06 ENSE00002418231_002 ENSE00002418231 002 17 26686293 26686462 + 45 90 35 T A 26686307 1067 15 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGTTATTCCCAGCTTGT 28359269 28359439 28359283 28359284 28359284 upstr_intron -31 -0.666666666666667 ACAAGCTGGGAATAACATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 1276 199 0.998930799249614 1 0.999465399624807 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.0062256878118423 0.132563174755651 0.996877200098902 0.93007096834106 NA 0.0693944312837468 NA FALSE NA 0.006 0.381 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA ATC T,A 2.471e-05 17:28359284 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 non_coding_transcript_exon_variant 1.470343 0.19677 0.11747 0.156188 0.857825210893842 0.393516 0.000653685320091756 FALSE 3.25773e-05 ENSE00002418231_003 ENSE00002418231 003 17 26686293 26686462 + 45 90 35 T C 26686320 1068 28 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAGATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359296 28359297 28359297 upstr_intron -18 -0.377777777777778 ACAAGCTGGGAATATCATTCTTCTCATCTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 562 998 0.999926750515343 0.998143745434332 0.999035247974837 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.0072216390775709 0.130706920189984 0.996877200098902 0.93007096834106 NA 0.0689642796337772 NA FALSE NA 0.067 1.311 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA TTT T,C 4.118e-05 17:28359297 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 non_coding_transcript_exon_variant 1.549125 0.29924 0.32255 0.295142 0.861102525044586 0.393516 0.000653685320091756 FALSE 2.03252e-05 ENSE00002418231_004 ENSE00002418231 004 17 26686293 26686462 + 45 90 35 C T 26686354 1069 62 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGACAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359330 28359331 28359331 exon 17 0.188888888888889 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGTCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 557 847 1 0.965570358013127 0.982785179006563 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00729488856222804 0.0981335327687781 0.996877200098902 0.93007096834106 NA 0.0527142106655031 NA FALSE NA 1 7.239 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA GCC C,T 8.236e-06 17:28359331 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 7.657463 0.99593 0.99229 0.706298 0.999288866487895 0 0.000653685320091756 FALSE 4.06157e-06 ENSE00002418231_005 ENSE00002418231 005 17 26686293 26686462 + 45 90 35 C T 26686355 1070 63 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGAGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359331 28359332 28359332 exon 18 0.2 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCTCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant 25 26 0.968837420442279 1 0.984418710221139 1519 625 0.997835149363226 0.998710950769455 0.99827305006634 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 -0.0305959275606434 0.00567894780511902 0.00513003792545375 0.131274125525107 0.996877200098902 0.93007096834106 -0.0124584898777622 0.0682020817252801 0.0806605716030424 FALSE FALSE 0.047 -0.663 rs146261007 downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CCC C,T 8.236e-06 17:28359332 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 2.565209 0.96059 0.24676 0.706298 0.868524857451402 0 0.000653685320091756 FALSE NA ENSE00002418231_006 ENSE00002418231 006 17 26686293 26686462 + 45 90 35 C T 26686356 1071 64 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCAGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359332 28359333 28359333 exon 19 0.211111111111111 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCTGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 110 973 0.66174977277706 0.770042544017684 0.715896158397372 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA -0.330955338660712 -0.0973942812266646 0.996877200098902 0.93007096834106 NA -0.214174809943688 NA FALSE NA 1 4.45 rs139350436 downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CCG C,T 9.884e-05 17:28359333 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 8.491921 0.9924 0.98298 0.706298 0.999048684302538 0 0.000653685320091756 FALSE 8.12315e-05 ENSE00002418231_007 ENSE00002418231 007 17 26686293 26686462 + 45 90 35 G A 26686357 1072 65 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCTGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359333 28359334 28359334 exon 20 0.222222222222222 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCAGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant 16 17 1 0.98877471749616 0.99438735874808 93 238 0.993635362586641 0.999839937467451 0.996737650027046 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 0.000566651997077616 -0.00554633469872079 0.000930251148869465 0.132403112223102 0.996877200098902 0.93007096834106 -0.00248984135082159 0.0666666816859859 0.0691565230368075 FALSE FALSE 1 9.159 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CGG G,A 1.647e-05 17:28359334 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 8.111941 0.99609 0.99534 0.706298 0.999421551225396 0 0.000653685320091756 FALSE 1.62463e-05 ENSE00002418231_010 ENSE00002418231 010 17 26686293 26686462 + 45 90 35 G A 26686383 1075 91 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGTCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359359 28359360 28359360 exon -45 0.511111111111111 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGACCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant 20 12 1 0.99954180997137 0.999770904985685 1605 206 0.992810084500805 0.999629659113494 0.996219871807149 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 0.000566651997077616 0.00522075777648878 0.000104973063032587 0.132192833869146 0.996877200098902 0.93007096834106 0.0028937048867832 0.0661489034660891 0.0632551985793059 FALSE FALSE 1 9.159 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA GGC G,A 8.236e-06 17:28359360 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 5.948461 0.99441 0.99326 0.706298 0.999433361824528 0 0.000653685320091756 FALSE NA ENSE00002418231_011 ENSE00002418231 011 17 26686293 26686462 + 45 90 35 A G 26686386 1076 94 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATCGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359362 28359363 28359363 exon -42 0.544444444444444 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCGATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant 26 21 0.965633816142705 0.981206034479505 0.973419925311105 1727 848 0.999090946410932 0.997395433188948 0.99824318979994 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 -0.033799531860217 -0.0131150177153759 0.00638583497315992 0.129958607944599 0.996877200098902 0.93007096834106 -0.0234572747877965 0.0681722214588796 0.0916294962466761 FALSE FALSE 1 6.813 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CAA A,G 2.471e-05 17:28359363 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 4.45535 0.98361 0.97746 0.706298 0.996722416779901 0 0.000653685320091756 FALSE 1.62451e-05 ENSE00002418231_012 ENSE00002418231 012 17 26686293 26686462 + 45 90 35 A G 26686387 1077 95 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCACTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359363 28359364 28359364 exon -41 0.555555555555556 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAGTGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 253 700 0.996355542448275 0.999454472032489 0.997905007240382 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00365043101050277 0.13201764678814 0.996877200098902 0.93007096834106 NA 0.0678340388993215 NA FALSE NA 1 6.887 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA AAT A,G 8.236e-06 17:28359364 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 5.280818 0.98752 0.9831 0.706298 0.998685245189115 0 0.000653685320091756 FALSE 4.06131e-06 ENSE00002418231_014 ENSE00002418231 014 17 26686293 26686462 + 45 90 35 G A 26686391 1079 99 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCTTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359367 28359368 28359368 exon -37 0.6 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAAGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 982 1035 0.996603448416388 0.984881590661858 0.990742519539123 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00389833697861608 0.117444765417509 0.996877200098902 0.93007096834106 NA 0.0606715511980628 NA FALSE NA 1 2.602 rs144096949 downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA AGG G,A 6.589e-05 17:28359368 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 synonymous_variant 2.140201 0.97582 0.92429 0.706298 0.871736331965811 0 0.000653685320091756 FALSE 6.49799e-05 ENSE00002418231_015 ENSE00002418231 015 17 26686293 26686462 + 45 90 35 A C 26686394 1080 102 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATAGTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359370 28359371 28359371 exon -34 0.633333333333333 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGACTATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 736 716 1 0.999840385017423 0.999920192508712 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00729488856222804 0.132403559773074 0.996877200098902 0.93007096834106 NA 0.0698492241676512 NA FALSE NA 1 1.256 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA AAT A,C 4.942e-05 17:28359371 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 4.339908 0.97698 0.92387 0.706298 0.997732423435227 0 0.000653685320091756 FALSE 3.65503e-05 ENSE00002418231_016 ENSE00002418231 016 17 26686293 26686462 + 45 90 35 C T 26686401 1081 109 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCATTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359377 28359378 28359378 exon -27 0.711111111111111 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAATGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 633 1401 1 0.999887098356763 0.999943549178381 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00729488856222804 0.132450273112414 0.996877200098902 0.93007096834106 NA 0.0698725808373212 NA FALSE NA 1 2.307 rs144960624 downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA ACG C,T 3.295e-05 17:28359378 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 8.030013 0.98392 0.92706 0.706298 0.999276157275428 0 0.000653685320091756 FALSE 6.90406e-05 ENSE00002418231_017 ENSE00002418231 017 17 26686293 26686462 + 45 90 35 G A 26686402 1082 110 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCTGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359378 28359379 28359379 exon -26 0.722222222222222 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACAGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 1235 337 0.999532547837412 0.968291892456307 0.98391222014686 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00682743639964012 0.100855067211958 0.996877200098902 0.93007096834106 NA 0.0538412518057992 NA FALSE NA 1 5.193 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CGG G,A 6.589e-05 17:28359379 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 5.764862 0.98218 0.96846 0.706298 0.999528955434252 0 0.000653685320091756 FALSE 6.49799e-05 ENSE00002418231_020 ENSE00002418231 020 17 26686293 26686462 + 45 90 35 C T 26686410 1085 118 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCAGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359386 28359387 28359387 exon -18 0.811111111111111 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCTGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant 11 13 0.993536541097118 0.994325022933923 0.993930782015521 548 845 0.998488294761067 0.995291812738918 0.996890053749992 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 -0.0058968069058043 3.97073904201406e-06 0.00578318332329475 0.127854987494569 0.996877200098902 0.93007096834106 -0.00294641808338114 0.066819085408932 0.0697655034923131 FALSE FALSE 0.998 1.547 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CCG C,T 1.647e-05 17:28359387 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 7.79505 0.98283 0.91235 0.706298 0.999314259663569 0 0.000653685320091756 FALSE 8.12321e-06 ENSE00002418231_023 ENSE00002418231 023 17 26686293 26686462 + 45 90 35 C T 26686415 1088 123 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACATTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359391 28359392 28359392 exon -13 0.866666666666667 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAATGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 683 433 0.997011041529775 0.999634577274322 0.998322809402048 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00430593009200286 0.132197752029973 0.996877200098902 0.93007096834106 NA 0.0682518410609881 NA FALSE NA 0.981 0.119 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 COSM472462 1 NA ACG C,T 8.236e-06 17:28359392 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 synonymous_variant 1.957512 0.94995 0.41508 0.706298 0.864390367447855 0 0.000653685320091756 FALSE 8.12328e-06 ENSE00002418231_024 ENSE00002418231 024 17 26686293 26686462 + 45 90 35 G A 26686416 1089 124 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGATGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359392 28359393 28359393 exon -12 0.877777777777778 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACATCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 771 1925 0.999801188087921 0.999917834404727 0.999859511246324 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00709607665014911 0.132481009160379 0.996877200098902 0.93007096834106 NA 0.069788542905264 NA FALSE NA 1 2.791 rs11538927 downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CGT G,A 0.044 17:28359393 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 2.993337 0.97749 0.91714 0.706298 0.997911518877276 0 0.000653685320091756 FALSE 0.0459143 ENSE00002418231_025 ENSE00002418231 025 17 26686293 26686462 + 45 90 35 T A 26686424 1090 132 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGTCAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359400 28359401 28359401 exon -4 0.966666666666667 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGACAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 21 129 1 0.817325859964841 0.90866292998242 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00729488856222804 -0.0501109652795076 0.996877200098902 0.93007096834106 NA -0.0214080383586398 NA FALSE NA 1 1.612 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA GTC T,A 8.236e-06 17:28359401 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 stop_gained 9.347633 0.9709 0.87884 0.706298 0.99290965819498 0 0.000653685320091756 FALSE NA ENSE00002418231_026 ENSE00002418231 026 17 26686293 26686462 + 45 90 35 G C 26686428 1091 136 CTACCTAGACCACGTACTGAAGAGCATGTCCTTAGCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359404 28359405 28359405 downstr_intron 1 1.02941176470588 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGCTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant 43 76 0 0 0 304 1434 0.000988192019921424 0.0347412253019124 0.0178647086609169 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 -0.999433348002922 -0.994321052194881 -0.991716919417851 -0.832695599942436 0.996877200098902 0.93007096834106 -0.996877200098902 -0.912206259680143 0.0846709404187582 TRUE TRUE 1 9.159 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA GGT G,C 8.236e-06 17:28359405 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 splice_donor_variant 5.069289 0.99468 0.99456 0.295142 0.995089752561018 0.990151 0.000653685320091756 FALSE 4.06204e-06 ENSE00002418231_027 ENSE00002418231 027 17 26686293 26686462 + 45 90 35 A G 26686445 1092 153 CTACCTAGACCACGTACCGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359421 28359422 28359422 downstr_intron 18 1.52941176470588 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCGGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant 18 57 0.954727499470802 0.953693415895403 0.954210457683102 213 2794 1 0.995862553448204 0.997931276724102 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 -0.0447058485321208 -0.0406276362994777 0.00729488856222804 0.128425728203856 0.996877200098902 0.93007096834106 -0.0426667424157993 0.0678603083830419 0.110527050798841 FALSE FALSE 0 -0.158 rs17802736 downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CAG A,G 0.046 17:28359422 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 intron_variant 0.166502 0.16681 0.06134 0.099367 0.560681714039038 0.0509054 0.000653685320091756 FALSE 0.0473663 ENSE00002418231_028 ENSE00002418231 028 17 26686293 26686462 + 45 90 35 G A 26686446 1093 154 CTACCTAGACCACGTATTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359422 28359423 28359423 downstr_intron 19 1.55882352941176 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAATACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 1681 1716 0.999460158912087 0.996833000879075 0.998146579895581 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.00675504747431488 0.129396175634727 0.996877200098902 0.93007096834106 NA 0.0680756115545209 NA FALSE NA 0 -2.725 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA AGT G,A 3.295e-05 17:28359423 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 intron_variant 0.13121 0.12588 0.0237 0.099367 0.774263223376693 0.0509054 0.000653685320091756 FALSE 2.84451e-05 ENSE00002418231_029 ENSE00002418231 029 17 26686293 26686462 + 45 90 35 C T 26686449 1094 157 CTACCTAGACCACATACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359425 28359426 28359426 downstr_intron 22 1.64705882352941 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTATGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 1113 693 0.998343668241775 0.976234379013176 0.987289023627475 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 NA NA 0.0056385568040026 0.108797553768827 0.996877200098902 0.93007096834106 NA 0.0572180552864148 NA FALSE NA 0 -0.819 . downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA ACG C,T 4.942e-05 17:28359426 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 intron_variant 0.243183 0.11701 0.00752 0.062308 0.57318271253515 0.0516902 0.000653685320091756 FALSE 2.43875e-05 ENSE00002418231_030 ENSE00002418231 030 17 26686293 26686462 + 45 90 35 G A 26686450 1095 158 CTACCTAGACCATGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359426 28359427 28359427 downstr_intron 23 1.67647058823529 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACATGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant 14 12 0.994157712731634 1 0.997078856365817 102 978 0.998494219904761 0.993948357971566 0.996221288938164 0.999433348002922 0.994321052194881 0.992705111437772 0.867436825244349 -0.00527563527128805 0.00567894780511902 0.00578910846698943 0.126511532727217 0.996877200098902 0.93007096834106 0.000201656266915484 0.0661503205971033 0.0659486643301878 FALSE FALSE 0 -0.861 rs191739626 downstream_gene_variant MODIFIER CTB-96E2.7 Clone_based_vega_gene NA ENST00000577850 1 NA CGT G,A 0.0006671 17:28359427 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 intron_variant -0.337897 0.05352 0.00253 0.062308 0.677806100374192 0.0516902 0.000653685320091756 FALSE 0.000499988 ENSE00000332835_000 ENSE00000332835 000 X 48837777 48837946 - 51 57 62 NA NA NA NA NA AGGGAGGCTACAGGTAGGAGGGAGCCGTGCTTGGGCACCGCTCTGTCTTACCGCAGCACTGCCCTTCTTCTCCAGGATCCTCTGCCCATCCACTGTGTCCTTCACCTCCTGTGGGAGAAAGCAGGCATGGCTGGTAGATGCCGGAAGGGCTGCCTGAAGCATGCTCCCTC 48981364 48981534 NA NA NA NA NA NA GAGGGAGCATGCTTCAGGCAGCCCTTCCGGCATCTACCAGCCATGCCTGCTTTCTCCCACAGGAGGTGAAGGACACAGTGGATGGGCAGAGGATCCTGGAGAAGAAGGGCAGTGCTGCGGTAAGACAGAGCGGTGCCCAAGCACGGCTCCCTCCTACCTGTAGCCTCCCT GAGGGAGCATGCTTCAGGCAGCCCTTCCGGCATCTACCAGCCATGCCTGCTTTCTCCCACAGGAGGTGAAGGACACAGTGGATGGGCAGAGGATCCTGGAGAAGAAGGGCAGTGCTGCGGTAAGACAGAGCGGTGCCCAAGCACGGCTCCCTCCTACCTGTAGCCTCCCT natural 304 345 0.85 0.846781999258423 0.848390999629211 1365 1784 0.85347971552226 0.806810193821125 0.830144954671692 0.85 0.846781999258423 0.85347971552226 0.806810193821125 0 0 0 0 0.848390999629211 0.830144954671692 0 0 0 FALSE FALSE NA NA NA NA NA GRIPAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIPAP1 NA NA NA ENSG00000068400 ENSE00003727880 NA NA NA NA NA NA NA 0.996933311471836 TRUE NA ENSE00000332835_007 ENSE00000332835 007 X 48837777 48837946 - 51 57 62 C T 48837918 457 29 AGGGAGGCTACAGGTAGGAGGGAGCCGTGCTTGGGCACCGCTCTGTCTTACCGCAGCACTGCCCTTCTTCTCCAGGATCCTCTGCCCATCCACTGTGTCCTTCACCTCCTGTGGGAGAAAGCAGGCATGGCTGGTAGATGCTGGAAGGGCTGCCTGAAGCATGCTCCCTC 48981364 48981534 48981505 48981506 48981506 upstr_intron -34 -0.532258064516129 GAGGGAGCATGCTTCAGGCAGCCCTTCCAGCATCTACCAGCCATGCCTGCTTTCTCCCACAGGAGGTGAAGGACACAGTGGATGGGCAGAGGATCCTGGAGAAGAAGGGCAGTGCTGCGGTAAGACAGAGCGGTGCCCAAGCACGGCTCCCTCCTACCTGTAGCCTCCCT GAGGGAGCATGCTTCAGGCAGCCCTTCCGGCATCTACCAGCCATGCCTGCTTTCTCCCACAGGAGGTGAAGGACACAGTGGATGGGCAGAGGATCCTGGAGAAGAAGGGCAGTGCTGCGGTAAGACAGAGCGGTGCCCAAGCACGGCTCCCTCCTACCTGTAGCCTCCCT mutant NA NA NA NA NA 31 290 0.8 0.948388528314134 0.874194264157067 0.85 0.846781999258423 0.85347971552226 0.806810193821125 NA NA -0.0534797155222599 0.141578334493009 0.848390999629211 0.830144954671692 NA 0.0440493094853744 NA FALSE NA 0 -1.099 . intron_variant MODIFIER GRIPAP1 HGNC 18706 ENST00000376423 17/19 1 NA CCG C,T 2.475e-05 X:48981506 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003727880 intron_variant -0.067665 0.09092 0.00981 0 0.771372367893848 0.0675856 0.996933311471836 TRUE NA ENSE00000338771_000 ENSE00000338771 000 15 41029796 41029965 - 30 99 41 NA NA NA NA NA GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 NA NA NA NA NA NA TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC natural NA NA NA NA NA 3964 3460 0.618200630269339 0.80765735401731 0.712928992143325 NA NA 0.618200630269339 0.80765735401731 NA NA 0 0 NA 0.712928992143325 NA 0 NA FALSE NA NA NA NA NA NA RMDN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RMDN3 NA NA NA ENSG00000137824 ENSE00003482422 NA NA NA NA NA NA NA 0.023779597676249 FALSE NA ENSE00000338771_002 ENSE00000338771 002 15 41029796 41029965 - 30 99 41 C T 41029815 456 151 GTTTTTGCCTGCCACCTGCTCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737616 40737617 40737617 downstr_intron 11 1.37931034482759 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGAGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 33 315 0.0188848753415252 0.0010168543111479 0.00995086482633656 NA NA 0.618200630269339 0.80765735401731 NA NA -0.599315754927814 -0.806640499706162 NA 0.712928992143325 NA -0.702978127316988 NA TRUE NA 0.001 0.214 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 rs549238967 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCC C,T 2.471e-05 15:40737617 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 non_coding_transcript_exon_variant 0.419634 0.30318 0.00908 0.156188 0.515831112962537 0.147758 0.023779597676249 FALSE 2.03894e-05 ENSE00000338771_003 ENSE00000338771 003 15 41029796 41029965 - 30 99 41 C T 41029819 457 147 GTTTTTGCCTGCCACCTGCCCCTTTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737620 40737621 40737621 downstr_intron 7 1.24137931034483 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAAAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 381 159 0.886691608814836 0.995303061204081 0.940997335009459 NA NA 0.618200630269339 0.80765735401731 NA NA 0.268490978545497 0.187645707186771 NA 0.712928992143325 NA 0.228068342866134 NA FALSE NA 0 -0.154 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA TCT C,T 8.236e-06 15:40737621 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 splice_region_variant 1.047715 0.2248 0.03068 0.156188 0.625598785723115 0.0969652 0.023779597676249 FALSE 4.06392e-06 ENSE00000338771_006 ENSE00000338771 006 15 41029796 41029965 - 30 99 41 G T 41029859 460 107 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTTGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737660 40737661 40737661 exon -34 0.666666666666667 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCAACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant 17 42 0.85 0.85 0.85 24 319 0.8 0.97307818883829 0.886539094419145 NA NA 0.618200630269339 0.80765735401731 NA NA 0.181799369730661 0.16542083482098 NA 0.712928992143325 NA 0.173610102275821 NA FALSE NA 0.998 0.217 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA TGG G,T 1.647e-05 15:40737661 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 synonymous_variant 1.003092 0.9657 0.91637 0.722319 0.593580406805975 0 0.023779597676249 FALSE 8.12242e-06 ENSE00000338771_008 ENSE00000338771 008 15 41029796 41029965 - 30 99 41 G A 41029869 462 97 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAAGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737670 40737671 40737671 exon -44 0.565656565656566 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCTTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 2287 97 0.946979081207331 0.863546040531779 0.905262560869555 NA NA 0.618200630269339 0.80765735401731 NA NA 0.328778450937992 0.0558886865144687 NA 0.712928992143325 NA 0.19233356872623 NA FALSE NA 1 5.977 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA AGG G,A 8.236e-06 15:40737671 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 missense_variant 4.141625 0.97574 0.96694 0.722319 0.975520008351608 0 0.023779597676249 FALSE 4.06118e-06 ENSE00000338771_009 ENSE00000338771 009 15 41029796 41029965 - 30 99 41 C T 41029872 463 94 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGTTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737673 40737674 40737674 exon -47 0.535353535353535 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAACCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant 31 19 0.85 0.85 0.85 30 260 0.857517313593386 0.793337229792166 0.825427271692776 NA NA 0.618200630269339 0.80765735401731 NA NA 0.239316683324047 -0.0143201242251445 NA 0.712928992143325 NA 0.112498279549451 NA FALSE NA 0.038 -0.165 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 rs202155220 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 GCT C,T 1.647e-05 15:40737674 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 missense_variant 1.492903 0.95641 0.11304 0.722319 0.622739940923611 0 0.023779597676249 FALSE 8.12394e-06 ENSE00000338771_010 ENSE00000338771 010 15 41029796 41029965 - 30 99 41 A T 41029877 464 89 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCTAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737678 40737679 40737679 exon 48 0.484848484848485 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTAGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 861 318 0.0303245872184771 0.0757973889270547 0.0530609880727659 NA NA 0.618200630269339 0.80765735401731 NA NA -0.587876043050862 -0.731859965090256 NA 0.712928992143325 NA -0.659868004070559 NA TRUE NA 0.974 0.35 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA CAA A,T 8.236e-06 15:40737679 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 synonymous_variant 0.043224 0.94838 0.77201 0.722319 0.717096083340783 0 0.023779597676249 FALSE 4.06108e-06 ENSE00000338771_012 ENSE00000338771 012 15 41029796 41029965 - 30 99 41 T G 41029895 466 71 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTGTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737696 40737697 40737697 exon 30 0.303030303030303 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAACACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 489 64 0.8 0.8 0.8 NA NA 0.618200630269339 0.80765735401731 NA NA 0.181799369730661 -0.00765735401731016 NA 0.712928992143325 NA 0.0870710078566755 NA FALSE NA 1 1.518 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 rs377218919 1 NA G:0 G:0.0001 TTT T,G 3.295e-05 15:40737697 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 missense_variant 6.174722 0.9727 0.93224 0.722319 0.998528050016543 0 0.023779597676249 FALSE 2.4376e-05 ENSE00000338771_013 ENSE00000338771 013 15 41029796 41029965 - 30 99 41 T C 41029902 467 64 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTCCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737703 40737704 40737704 exon 23 0.232323232323232 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGGAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 1591 18 0.8 0.8 0.8 NA NA 0.618200630269339 0.80765735401731 NA NA 0.181799369730661 -0.00765735401731016 NA 0.712928992143325 NA 0.0870710078566756 NA FALSE NA 1 6.473 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA TTC T,C 8.236e-06 15:40737704 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 missense_variant 6.405591 0.9895 0.98533 0.722319 0.999259918468171 0 0.023779597676249 FALSE NA ENSE00000338771_014 ENSE00000338771 014 15 41029796 41029965 - 30 99 41 T C 41029904 468 62 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCCAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737705 40737706 40737706 exon 21 0.212121212121212 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTGGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant 23 96 0.600898462889635 0.412494404017678 0.506696433453657 300 178 0.781133827646204 0.948249773082557 0.86469180036438 NA NA 0.618200630269339 0.80765735401731 NA NA 0.162933197376865 0.140592419065246 NA 0.712928992143325 NA 0.151762808221056 NA FALSE NA 0.993 0.011 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA CTA T,C 3.295e-05 15:40737706 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 synonymous_variant 0.601179 0.96442 0.676 0.722319 0.758588728595525 0 0.023779597676249 FALSE 2.03307e-05 ENSE00000338771_016 ENSE00000338771 016 15 41029796 41029965 - 30 99 41 T C 41029917 470 49 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGCGAGAGACCTGCCACAAAAAGATCAAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737718 40737719 40737719 exon 8 0.0808080808080808 TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCGCCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 339 28 0.8 0.8 0.8 NA NA 0.618200630269339 0.80765735401731 NA NA 0.181799369730661 -0.00765735401731016 NA 0.712928992143325 NA 0.0870710078566755 NA FALSE NA 1 3.298 NA NA NA RMDN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40737719 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 missense_variant 3.873022 0.98638 0.97729 0.722319 0.990111581032328 0 0.023779597676249 FALSE 0.00173368 ENSE00000338771_021 ENSE00000338771 021 15 41029796 41029965 - 30 99 41 A G 41029941 475 25 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCGAGGTGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737742 40737743 40737743 upstr_intron -17 -0.390243902439024 TTTTAAAACCTCTTATACACACCTCGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 123 309 0.807831891237136 0.8 0.803915945618568 NA NA 0.618200630269339 0.80765735401731 NA NA 0.189631260967798 -0.00765735401731016 NA 0.712928992143325 NA 0.0909869534752437 NA FALSE NA 0.001 0.748 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA CAA A,G 1.647e-05 15:40737743 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 non_coding_transcript_exon_variant 1.939574 0.28079 0.13229 0.099367 0.906176420388468 0.316946 0.023779597676249 FALSE 2.84866e-05 ENSE00000338771_022 ENSE00000338771 022 15 41029796 41029965 - 30 99 41 T G 41029945 476 21 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGGGTGTATAAGAGGTTTTAAAA 40737597 40737767 40737746 40737747 40737747 upstr_intron -21 -0.48780487804878 TTTTAAAACCTCTTATACACCCCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant 21 52 0.85 0.85 0.85 1368 104 0.747964483362676 0.804839257704863 0.77640187053377 NA NA 0.618200630269339 0.80765735401731 NA NA 0.129763853093337 -0.00281809631244689 NA 0.712928992143325 NA 0.063472878390445 NA FALSE NA 0.004 1.155 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA GTG T,G 8.237e-06 15:40737747 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 non_coding_transcript_exon_variant 2.12689 0.70439 0.16753 0.099367 0.921420096564006 0.729366 0.023779597676249 FALSE 4.08213e-06 ENSE00000338771_023 ENSE00000338771 023 15 41029796 41029965 - 30 99 41 T C 41029947 477 19 GTTTTTGCCTGCCACCTGCCCCTCTCATACCTTTAGGAAGCTCTGGAGGGCATCTTCCACAGTGGCACTGAGAGGGCTTTCAAGCAAGGCTGTAGCAGTTTTTTTTTCTAGCCAGCTCAGGTGAGAGACCTGCCACAAAAAGATCAAGGTGCGTATAAGAGGTTTTAAAA 40737597 40737767 40737748 40737749 40737749 upstr_intron -23 -0.536585365853659 TTTTAAAACCTCTTATACGCACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC mutant NA NA NA NA NA 43 491 0.8 0.764288976093667 0.782144488046833 NA NA 0.618200630269339 0.80765735401731 NA NA 0.181799369730661 -0.0433683779236436 NA 0.712928992143325 NA 0.0692154959035088 NA FALSE NA 0.01 1.125 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1/2 1 NA GTG T,C 1.647e-05 15:40737749 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003482422 non_coding_transcript_exon_variant 0.453647 0.25024 0.07933 0.099367 0.738987889330299 0.265314 0.023779597676249 FALSE 8.27904e-06 ENSE00000373145_000 ENSE00000373145 000 14 94152873 94153042 + 45 90 35 NA NA NA NA NA GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 NA NA NA NA NA NA AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC natural 41 38 0.996929552920585 0.987576143019775 0.99225284797018 5239 4923 0.972249332995105 0.996333478798153 0.984291405896629 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 0 0 0 0 0.99225284797018 0.984291405896629 0 0 0 FALSE FALSE NA NA NA NA NA UNC79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC79 NA NA NA ENSG00000133958 ENSE00000373145 NA NA NA NA NA NA NA 0.999999999973909 TRUE NA ENSE00000373145_001 ENSE00000373145 001 14 94152873 94153042 + 45 90 35 T C 94152889 1439 17 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACGCCTTCATTTTTGCCCT 93686526 93686696 93686542 93686543 93686543 upstr_intron -29 -0.622222222222222 AGGGCAAAAATGAAGGCGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 17 228 1 0.999832909818332 0.999916454909166 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00349943102017891 0.99225284797018 0.984291405896629 NA 0.0156250490125369 NA FALSE NA 0 -0.068 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 1 NA GTG T,C 8.236e-06 14:93686543 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 intron_variant 0.779943 0.20926 0.01919 0.074388 0.52455248108538 0.110252 0.999999999973909 TRUE NA ENSE00000373145_002 ENSE00000373145 002 14 94152873 94153042 + 45 90 35 C T 94152895 1440 23 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGAGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686548 93686549 93686549 upstr_intron -23 -0.488888888888889 AGGGCAAAAATGAAGGTGTGACTCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 257 280 0.999679299664641 1 0.99983964983232 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0274299666695356 0.00366652120184685 0.99225284797018 0.984291405896629 NA 0.0155482439356912 NA FALSE NA 0 -1.116 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs537494234 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 CCC C,T 0.0004283 14:93686549 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 intron_variant 1.706725 0.23406 0.06192 0.074388 0.794724358804344 0.110252 0.999999999973909 TRUE 0.000362848 ENSE00000373145_003 ENSE00000373145 003 14 94152873 94153042 + 45 90 35 C A 94152896 1441 24 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTTGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686549 93686550 93686550 upstr_intron -22 -0.466666666666667 AGGGCAAAAATGAAGGTGTGACCAAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 258 315 1 0.969169675396943 0.984584837698471 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 -0.0271638034012105 0.99225284797018 0.984291405896629 NA 0.000293431801842214 NA FALSE NA 0 0.434 rs183470022 upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs183470022 1 A:0.0018 A:0 A:0 NA A:0.0089 A:0 A:0 CCA C,A 0.0006013 14:93686550 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 intron_variant 1.653305 0.23408 0.06472 0.074388 0.811410569586676 0.143078 0.999999999973909 TRUE 0.000619614 ENSE00000373145_004 ENSE00000373145 004 14 94152873 94153042 + 45 90 35 G A 94152911 1442 39 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAATACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686564 93686565 93686565 upstr_intron -7 -0.133333333333333 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTATTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 503 96 1 1 1 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00366652120184685 0.99225284797018 0.984291405896629 NA 0.0157085941033709 NA FALSE NA 0.983 0.453 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs370100711 1 NA A:0.0002 A:0 TGT G,A 4.942e-05 14:93686565 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 splice_region_variant 1.064217 0.86707 0.55042 0.074388 0.65807464685891 0.314544 0.999999999973909 TRUE 4.47227e-05 ENSE00000373145_005 ENSE00000373145 005 14 94152873 94153042 + 45 90 35 T C 94152920 1443 48 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCGCACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686573 93686574 93686574 exon 3 0.0333333333333333 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGCGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 178 58 1 1 1 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00366652120184685 0.99225284797018 0.984291405896629 NA 0.0157085941033709 NA FALSE NA 0.959 0.037 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 1 NA GTG T,C 8.236e-06 14:93686574 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 splice_region_variant 0.037466 0.9011 0.58812 0.653281 0.583237627182627 0 0.999999999973909 TRUE 4.06431e-06 ENSE00000373145_006 ENSE00000373145 006 14 94152873 94153042 + 45 90 35 G A 94152932 1444 60 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATTGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686585 93686586 93686586 exon 15 0.166666666666667 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCAATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 319 238 0.993611574867058 1 0.996805787433529 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0213622418719533 0.00366652120184685 0.99225284797018 0.984291405896629 NA 0.0125143815369001 NA FALSE NA 0.038 -0.638 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs574035652&COSM459094&COSM459095 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGA G,A 0.0002718 14:93686586 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 synonymous_variant 1.281804 0.21869 0.0759 0.653281 0.351532864612903 0 0.999999999973909 TRUE 0.00027224 ENSE00000373145_008 ENSE00000373145 008 14 94152873 94153042 + 45 90 35 G A 94152946 1446 74 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCTTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686599 93686600 93686600 exon 29 0.322222222222222 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAAGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 230 365 1 1 1 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00366652120184685 0.99225284797018 0.984291405896629 NA 0.0157085941033709 NA FALSE NA 1 9.35 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs200556160&COSM4053179&COSM4053180 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 AGG G,A 2.471e-05 14:93686600 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 missense_variant 2.870143 0.97229 0.96892 0.653281 0.98955448686222 0 0.999999999973909 TRUE 2.03158e-05 ENSE00000373145_009 ENSE00000373145 009 14 94152873 94153042 + 45 90 35 A G 94152958 1447 86 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGCTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686611 93686612 93686612 exon 41 0.455555555555556 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAGCGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 120 1133 0.992568061496167 0.998264197075217 0.995416129285692 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0203187285010623 0.0019307182770637 0.99225284797018 0.984291405896629 NA 0.011124723389063 NA FALSE NA 0.328 -0.03 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 1 NA AAC A,G 2.471e-05 14:93686612 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 missense_variant -1.676106 0.89282 0.03839 0.653281 0.179274573116039 0 0.999999999973909 TRUE 1.21912e-05 ENSE00000373145_010 ENSE00000373145 010 14 94152873 94153042 + 45 90 35 C T 94152959 1448 87 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCATTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686612 93686613 93686613 exon 42 0.466666666666667 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAATGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 1714 2073 0.934053356053351 0.999299318517238 0.966676337285294 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA -0.0381959769417539 0.00296583971908448 0.99225284797018 0.984291405896629 NA -0.0176150686113347 NA FALSE NA 0.343 0.236 rs76973270 upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs76973270 1 T:0.0260 T:0.0015 T:0.0187 NA T:0.002 T:0.0497 T:0.0644 T:0.0084 T:0.0391 ACG C,T 0.034 14:93686613 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 synonymous_variant 1.220426 0.90204 0.12538 0.653281 0.408608430984725 0 0.999999999973909 TRUE 0.0335284 ENSE00000373145_012 ENSE00000373145 012 14 94152873 94153042 + 45 90 35 C G 94152987 1450 115 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTCCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686640 93686641 93686641 exon -21 0.777777777777778 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGGACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 219 218 1 0.999825236723534 0.999912618361767 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00349175792538103 0.99225284797018 0.984291405896629 NA 0.015621212465138 NA FALSE NA 1 7.39 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs377409149 1 NA G:0 G:0.0002 GCA C,G 3.295e-05 14:93686641 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 missense_variant 6.471885 0.99408 0.99536 0.653281 0.981478895520385 0 0.999999999973909 TRUE 2.43962e-05 ENSE00000373145_013 ENSE00000373145 013 14 94152873 94153042 + 45 90 35 G A 94152992 1451 120 GAACCTGAGGGATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGTGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686645 93686646 93686646 exon -16 0.833333333333333 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACACTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 11 102 1 0.999626019797818 0.999813009898909 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00329254099966481 0.99225284797018 0.984291405896629 NA 0.0155216040022799 NA FALSE NA 0 -1.815 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs577840160 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGC G,A 0.000173 14:93686646 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 synonymous_variant 1.958509 0.84739 0.0887 0.653281 0.725844039096108 0 0.999999999973909 TRUE 0.000264344 ENSE00000373145_015 ENSE00000373145 015 14 94152873 94153042 + 45 90 35 C T 94153018 1453 146 GAACCTGAGGGATGAGCAGGTGGCAGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686671 93686672 93686672 downstr_intron 11 1.32352941176471 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACTGCCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 440 467 0.988532984745566 0.995688169679388 0.992110577212477 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0162836517504613 -0.000645309118765591 0.99225284797018 0.984291405896629 NA 0.00781917131584786 NA FALSE NA 0 -0.604 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs372924254 1 NA T:0.0002 T:0.0001 CCG C,T 6.589e-05 14:93686672 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 intron_variant -0.029571 0.15892 0.0053 0.074388 0.682008784181642 0.0443366 0.999999999973909 TRUE 7.33186e-05 ENSE00000373145_016 ENSE00000373145 016 14 94152873 94153042 + 45 90 35 G A 94153019 1454 147 GAACCTGAGGGATGAGCAGGTGGTGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686672 93686673 93686673 downstr_intron 12 1.35294117647059 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCACCACCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 127 978 0.991443569292543 0.999514560881283 0.995479065086913 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0191942362974376 0.00318108208313017 0.99225284797018 0.984291405896629 NA 0.0111876591902839 NA FALSE NA 0 0.073 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs545273182 1 A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 CGC G,A 0.0001071 14:93686673 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 intron_variant -0.371522 0.19338 0.02576 0.074388 0.736305062420982 0.0443366 0.999999999973909 TRUE 7.7412e-05 ENSE00000373145_018 ENSE00000373145 018 14 94152873 94153042 + 45 90 35 A T 94153022 1456 150 GAACCTGAGGGATGAGCAGGAGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686675 93686676 93686676 downstr_intron 15 1.44117647058824 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCTCCTGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 127 772 1 1 1 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00366652120184685 0.99225284797018 0.984291405896629 NA 0.0157085941033709 NA FALSE NA 0 -2.287 rs78604349 upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 rs78604349 1 NA T:0 T:0.0001 CAC A,T 8.236e-06 14:93686676 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 intron_variant -0.099862 0.09868 0.02628 0.074388 0.561171838236369 0.0443366 0.999999999973909 TRUE 1.22208e-05 ENSE00000373145_019 ENSE00000373145 019 14 94152873 94153042 + 45 90 35 T C 94153025 1457 153 GAACCTGAGGGATGAGCGGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686678 93686679 93686679 downstr_intron 18 1.52941176470588 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCCGCTCATCCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 46 966 1 0.999836246539838 0.999918123269919 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00350276774168512 0.99225284797018 0.984291405896629 NA 0.01562671737329 NA FALSE NA 0 -0.032 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 1 NA CTG T,C 0.0001812 14:93686679 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 intron_variant -0.025676 0.1524 0.00534 0.074388 0.507230928396567 0.0443366 0.999999999973909 TRUE 0.000366868 ENSE00000373145_021 ENSE00000373145 021 14 94152873 94153042 + 45 90 35 C T 94153032 1459 160 GAACCTGAGGAATGAGCAGGTGGCGGTCATCTCACCTTCAGTTTGGTCAGCGTGTGCATGTCTGCCATGAAATCCAGCACTTCGTTGATGTACTGCCTCACACACTCCATCGCTGCAGTCCCACACTGAAACACAAGGACACAGCTGGGTCACACCTTCATTTTTGCCCT 93686526 93686696 93686685 93686686 93686686 downstr_intron 25 1.73529411764706 AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATTCCTCAGGTTC AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC mutant NA NA NA NA NA 210 832 1 1 1 0.996929552920585 0.987576143019775 0.972249332995105 0.996333478798153 NA NA 0.0277506670048949 0.00366652120184685 0.99225284797018 0.984291405896629 NA 0.0157085941033709 NA FALSE NA 0 -0.446 . upstream_gene_variant MODIFIER UNC79 HGNC 19966 ENST00000554549 1 NA TCC C,T 8.236e-06 14:93686686 UNC79 HGNC Symbol protein_coding 374657 ENSG00000133958 ENSE00000373145 intron_variant 0.201393 0.18736 0.04763 0.074388 0.471413450404349 0.0443366 0.999999999973909 TRUE 8.1694e-06 ENSE00000377990_000 ENSE00000377990 000 19 45769421 45769590 + 62 57 51 NA NA NA NA NA GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 NA NA NA NA NA NA CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC natural 49 48 0.990671114294964 0.965895142020383 0.978283128157674 1621 737 0.993462923246967 0.964596914112801 0.979029918679884 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 0 0 0 0 0.978283128157674 0.979029918679884 0 0 0 FALSE FALSE NA NA NA NA NA MARK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARK4 NA NA NA ENSG00000007047 ENSE00003789080 NA NA NA NA NA NA NA 0.999932135718548 TRUE NA ENSE00000377990_001 ENSE00000377990 001 19 45769421 45769590 + 62 57 51 G A 45769433 2689 13 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGTCTCCCTCAGTGG 45266162 45266332 45266174 45266175 45266175 upstr_intron -50 -0.790322580645161 CCACTGAGGGAGACTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant NA NA NA NA NA 33 59 0.998746209411576 0.90435434064451 0.951550275028043 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 NA NA 0.00528328616460916 -0.0602425734682912 0.978283128157674 0.979029918679884 NA -0.027479643651841 NA FALSE NA 0.001 1.539 . intron_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 6/6 rs369336218 1 NA A:0 A:0.0001 GGC G,A 0.0001318 19:45266175 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant 0.147047 0.16402 0.07921 0.322412 0.642636736356861 0.046323 0.999932135718548 TRUE 0.000117961 ENSE00000377990_002 ENSE00000377990 002 19 45769421 45769590 + 62 57 51 T C 45769441 2690 21 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAGCCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266182 45266183 45266183 upstr_intron -42 -0.661290322580645 CCACTGAGGGAGGCTGAGGGCTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant 11 42 0.85 0.85 0.85 NA NA NA NA NA 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 -0.140671114294964 -0.115895142020383 NA NA 0.978283128157674 0.979029918679884 -0.128283128157674 NA NA NA FALSE 0 -3.33 . intron_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 6/6 1 NA GTT T,C 8.236e-06 19:45266183 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant 0.002689 0.07742 0.00225 0.322412 0.609284919450586 0.046323 0.999932135718548 TRUE 4.06607e-06 ENSE00000377990_003 ENSE00000377990 003 19 45769421 45769590 + 62 57 51 A G 45769463 2691 43 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGCTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266204 45266205 45266205 upstr_intron -20 -0.306451612903226 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAGCCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant NA NA NA NA NA 322 299 0.980014701139081 0.975810235093994 0.977912468116538 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 NA NA -0.0134482221078857 0.0112133209811932 0.978283128157674 0.979029918679884 NA -0.00111745056334622 NA FALSE NA 0 -2.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:45266205 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant -0.082442 0.08124 0.00726 0.322412 0.39119731104553 0.046323 0.999932135718548 TRUE 4.06379e-06 ENSE00000377990_004 ENSE00000377990 004 19 45769421 45769590 + 62 57 51 A C 45769463 2692 43 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGGTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266204 45266205 45266205 upstr_intron -20 -0.306451612903226 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCACCCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant 262 333 0.847905079386415 0.85 0.848952539693208 369 668 0.942873908629036 0.954431025556455 0.948652467092745 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 -0.142766034908549 -0.115895142020383 -0.0505890146179313 -0.0101658885563467 0.978283128157674 0.979029918679884 -0.129330588464466 -0.030377451587139 0.0989531368773272 FALSE FALSE 0 -2.002 NA NA NA MARK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARK4 NA NA NA ENSG00000007047 ENSE00003789080 intron_variant -0.296448 0.07586 0.00729 0.322412 0.408220154375187 0.046323 0.999932135718548 TRUE 4.06379e-06 ENSE00000377990_005 ENSE00000377990 005 19 45769421 45769590 + 62 57 51 C T 45769490 2693 70 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCAAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266231 45266232 45266232 exon 8 0.140350877192982 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTTGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant 57 42 0.85 0.85 0.85 838 76 0.835851030893854 0.774170005519428 0.805010518206641 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 -0.140671114294964 -0.115895142020383 -0.157611892353113 -0.190426908593373 0.978283128157674 0.979029918679884 -0.128283128157674 -0.174019400473243 0.0457362723155689 FALSE FALSE 1 7.609 . missense_variant MODERATE MARK4 HGNC 13538 ENST00000587566 7/7 rs534682723&COSM1394564&COSM1394563 1 deleterious_low_confidence(0) probably_damaging(0.922) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCG C,T 8.236e-06 19:45266232 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 missense_variant 5.138984 0.98977 0.99375 0.732398 0.998942643681367 0 0.999932135718548 TRUE 8.12651e-06 ENSE00000377990_006 ENSE00000377990 006 19 45769421 45769590 + 62 57 51 G A 45769491 2694 71 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCTGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266232 45266233 45266233 exon 9 0.157894736842105 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCAGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant NA NA NA NA NA 423 42 0.85000785801433 0.951552483943592 0.900780170978961 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 NA NA -0.143455065232637 -0.0130444301692092 0.978283128157674 0.979029918679884 NA -0.0782497477009231 NA FALSE NA 0 -2.206 . synonymous_variant LOW MARK4 HGNC 13538 ENST00000587566 7/7 rs377723607 1 NA A:0 A:0.0001 CGG G,A 8.236e-06 19:45266233 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 synonymous_variant 0.865725 0.45134 0.06742 0.732398 0.513645000552067 0 0.999932135718548 TRUE 1.21898e-05 ENSE00000377990_007 ENSE00000377990 007 19 45769421 45769590 + 62 57 51 G A 45769495 2695 75 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCATAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266236 45266237 45266237 exon 13 0.228070175438596 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTATGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant NA NA NA NA NA 49 51 0.851370356456559 0.8 0.825685178228279 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 NA NA -0.142092566790408 -0.164596914112801 0.978283128157674 0.979029918679884 NA -0.153344740451605 NA FALSE NA 1 9.596 . missense_variant MODERATE MARK4 HGNC 13538 ENST00000587566 7/7 1 deleterious_low_confidence(0) probably_damaging(0.924) NA TGT G,A 8.236e-06 19:45266237 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 missense_variant 6.061231 0.99056 0.99608 0.732398 0.999023652965639 0 0.999932135718548 TRUE 4.06316e-06 ENSE00000377990_010 ENSE00000377990 010 19 45769421 45769590 + 62 57 51 C G 45769533 2698 113 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGCTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266274 45266275 45266275 exon -7 0.894736842105263 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGAGCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant 53 37 0.85 0.85 0.85 364 2584 0.980579265892596 0.969257346137121 0.974918306014859 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 -0.140671114294964 -0.115895142020383 -0.0128836573543707 0.00466043202431954 0.978283128157674 0.979029918679884 -0.128283128157674 -0.00411161266502558 0.124171515492648 FALSE FALSE 0.865 0.031 . downstream_gene_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 1 NA ACC C,G 8.236e-06 19:45266275 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 missense_variant 5.240144 0.96527 0.93683 0.732398 0.996096751404023 0 0.999932135718548 TRUE 4.06322e-06 ENSE00000377990_012 ENSE00000377990 012 19 45769421 45769590 + 62 57 51 C T 45769549 2700 129 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCAGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266290 45266291 45266291 downstr_intron 10 1.2 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCTGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant 46 47 0.893711092989187 0.908815146822627 0.901263119905907 519 1903 0.981326223028869 0.979599557066115 0.980462890047492 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 -0.0969600213057774 -0.0570799951977564 -0.0121367002180981 0.0150026429533134 0.978283128157674 0.979029918679884 -0.0770200082517669 0.00143297136760767 0.0784529796193746 FALSE FALSE 0 -2.245 . downstream_gene_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 1 NA CCG C,T 7.413e-05 19:45266291 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant -0.209787 0.12703 0.00201 0.106106 0.61310371516709 0.0969652 0.999932135718548 TRUE 4.87718e-05 ENSE00000377990_014 ENSE00000377990 014 19 45769421 45769590 + 62 57 51 C T 45769553 2702 133 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGAGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266294 45266295 45266295 downstr_intron 14 1.28 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACTCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant NA NA NA NA NA 341 150 0.85036290923536 1 0.92518145461768 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 NA NA -0.143100014011607 0.0354030858871988 0.978283128157674 0.979029918679884 NA -0.053848464062204 NA FALSE NA 0 0.339 . downstream_gene_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 1 NA CCC C,T 8.236e-06 19:45266295 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant 0.063676 0.20117 0.0158 0.106106 0.408641492133685 0.0851235 0.999932135718548 TRUE 4.06491e-06 ENSE00000377990_015 ENSE00000377990 015 19 45769421 45769590 + 62 57 51 C T 45769554 2703 134 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCAGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266295 45266296 45266296 downstr_intron 15 1.3 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCTGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant NA NA NA NA NA 50 155 0.990579588907562 1 0.995289794453781 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 NA NA -0.00288333433940502 0.0354030858871988 0.978283128157674 0.979029918679884 NA 0.0162598757738969 NA FALSE NA 0 -0.255 . downstream_gene_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 rs374140813 1 NA T:0.0005 T:0 CCG C,T 8.236e-06 19:45266296 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant -0.305786 0.13794 0.01272 0.106106 0.350652878737672 0.0862078 0.999932135718548 TRUE 5.28515e-05 ENSE00000377990_016 ENSE00000377990 016 19 45769421 45769590 + 62 57 51 G A 45769555 2704 135 GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGTGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266296 45266297 45266297 downstr_intron 16 1.32 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCACTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant NA NA NA NA NA 462 14 0.990307481863821 0.95 0.970153740931911 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 NA NA -0.00315544138314561 -0.0145969141128012 0.978283128157674 0.979029918679884 NA -0.00887617774797339 NA FALSE NA 0 -0.718 . downstream_gene_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 rs554966315 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 CGC G,A 5.765e-05 19:45266297 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant -0.410831 0.08362 0.002 0.106106 0.358476399049106 0.0862078 0.999932135718548 TRUE 3.25283e-05 ENSE00000377990_017 ENSE00000377990 017 19 45769421 45769590 + 62 57 51 A T 45769573 2705 153 GTCTGTGGGCTGAGCCGAGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266314 45266315 45266315 downstr_intron 34 1.68 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCTCGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant NA NA NA NA NA 1353 23 0.998961227244583 1 0.999480613622292 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 NA NA 0.00549830399761631 0.0354030858871988 0.978283128157674 0.979029918679884 NA 0.0204506949424075 NA FALSE NA 0 -0.236 . downstream_gene_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 1 NA CAC A,T 3.295e-05 19:45266315 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant -0.244992 0.10414 0.01257 0.088506 0.575226655006293 0.046323 0.999932135718548 TRUE 4.47635e-05 ENSE00000377990_018 ENSE00000377990 018 19 45769421 45769590 + 62 57 51 G A 45769575 2706 155 GTCTGTGGGCTGAGCTGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTACCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATCTGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 45266316 45266317 45266317 downstr_intron 36 1.72 CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACAGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC mutant 46 20 0.85 0.85 0.85 245 1070 0.983831588974725 0.984726258041712 0.984278923508218 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 -0.140671114294964 -0.115895142020383 -0.0096313342722425 0.0201293439289103 0.978283128157674 0.979029918679884 -0.128283128157674 0.0052490048283339 0.133532132986008 FALSE FALSE 0 -2.631 rs2240672 downstream_gene_variant MODIFIER MARK4 HGNC 13538 ENST00000587566 rs2240672 1 A:0.2161 A:0.295 A:0.1816 NA A:0.1012 A:0.2952 A:0.1708 A:0.3175 A:0.3208 CGG A,A 0.261 19:45266317 MARK4 HGNC Symbol protein_coding 225995 ENSG00000007047 ENSE00003789080 intron_variant -0.159347 0.06742 0.00168 0.088506 0.523238944265173 0.046323 0.999932135718548 TRUE 0.254556 ENSE00000377990_BRK ENSE00000377990 BRK 19 45769421 45769590 + 62 57 51 A,G; T,T NA NA NA GTCTGTGGGCTGAGCCGTGGTCCCTGAGATCACAGCGGGTCGGGGGCTTGGCTTCAGGTCCCTGTGTACAATATTTTTCTGGTGACAATAGTGCACAGCCGAAACAATAAGGGAGGGAAGGGGAAGGTTGGTTATTTGTGGCTCCCAAAACCCTCAGCCTCCCTCAGTGG 45266162 45266332 NA NA NA NA NA NA CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCTTATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGCCAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC control 20 26 0 0 0 NA NA NA NA NA 0.990671114294964 0.965895142020383 0.993462923246967 0.964596914112801 -0.990671114294964 -0.965895142020383 NA NA 0.978283128157674 0.979029918679884 -0.978283128157674 NA NA NA TRUE NA NA NA NA NA MARK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARK4 NA NA NA ENSG00000007047 ENSE00003789080 NA NA NA NA NA NA NA 0.999932135718548 TRUE NA ENSE00000379229_000 ENSE00000379229 000 X 71895881 71896050 - 39 81 50 NA NA NA NA NA GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 NA NA NA NA NA NA GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG natural 28 71 0.999379087773174 0.987931060567971 0.993655074170572 2533 4696 0.996337996691736 0.939608867927578 0.967973432309657 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 0 0 0 0 0.993655074170572 0.967973432309657 0 0 0 FALSE FALSE NA NA NA NA NA PHKA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA1 NA NA NA ENSG00000067177 ENSE00000379229 NA NA NA NA NA NA NA 0.881287038362445 FALSE NA ENSE00000379229_001 ENSE00000379229 001 X 71895881 71896050 - 39 81 50 T C 71895897 697 154 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTGCTAAGTATGGGATGAG 72676030 72676200 72676046 72676047 72676047 downstr_intron 23 1.60526315789474 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTGCTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 298 601 0.994775596293591 1 0.997387798146795 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA -0.00156240039814515 0.0603911320724216 0.993655074170572 0.967973432309657 NA 0.0294143658371382 NA FALSE NA 0.027 1.132 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 6/31 1 NA GTA T,C 1.647e-05 X:72676047 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 intron_variant 0.062065 0.21412 0.11228 0 0.410247676744113 0.050747 0.881287038362445 FALSE 1.12489e-05 ENSE00000379229_002 ENSE00000379229 002 X 71895881 71896050 - 39 81 50 C A 71895899 698 152 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTTTACTAAGTATGGGATGAG 72676030 72676200 72676048 72676049 72676049 downstr_intron 21 1.55263157894737 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTTTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 2370 537 0.995359122954181 0.998524578223838 0.996941850589009 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA -0.000978873737555119 0.0589157102962597 0.993655074170572 0.967973432309657 NA 0.0289684182793523 NA FALSE NA 0 -1.926 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 6/31 1 NA ACA C,A 8.237e-06 X:72676049 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 intron_variant -0.465188 0.08255 0.00603 0 0.34405176540478 0.050747 0.881287038362445 FALSE 5.62376e-06 ENSE00000379229_003 ENSE00000379229 003 X 71895881 71896050 - 39 81 50 A G 71895933 699 118 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGCTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676082 72676083 72676083 exon -14 0.839506172839506 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGCTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 108 105 0.999618326097669 0.962914733556053 0.981266529826861 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA 0.00328032940593304 0.0233058656284748 0.993655074170572 0.967973432309657 NA 0.0132930975172039 NA FALSE NA 1 8.408 . missense_variant MODERATE PHKA1 HGNC 8925 ENST00000373545 6/32 1 deleterious(0) benign(0.259) NA AAC A,G 8.237e-06 X:72676083 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 missense_variant 6.051323 0.99117 0.9933 0 0.999046337337629 0 0.881287038362445 FALSE 5.59757e-06 ENSE00000379229_004 ENSE00000379229 004 X 71895881 71896050 - 39 81 50 T A 71895935 700 116 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCTGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676084 72676085 72676085 exon -16 0.814814814814815 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCTGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 158 856 1 0.999150782143391 0.999575391071696 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA 0.00366200330826427 0.059541914215813 0.993655074170572 0.967973432309657 NA 0.0316019587620386 NA FALSE NA 0.45 -0.041 . synonymous_variant LOW PHKA1 HGNC 8925 ENST00000373545 6/32 1 NA CTG T,A 1.647e-05 X:72676085 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 synonymous_variant 1.64164 0.95815 0.42256 0 0.73935067076566 0 0.881287038362445 FALSE 5.59773e-06 ENSE00000379229_005 ENSE00000379229 005 X 71895881 71896050 - 39 81 50 C T 71895961 701 90 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAAGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676110 72676111 72676111 exon 40 0.493827160493827 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAAGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 556 2273 0.996329592075328 0.972863707232825 0.984596649654077 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA -8.40461640760903e-06 0.0332548393052466 0.993655074170572 0.967973432309657 NA 0.0166232173444195 NA FALSE NA 1 7.119 . missense_variant MODERATE PHKA1 HGNC 8925 ENST00000373545 6/32 1 deleterious(0) probably_damaging(1) NA CCT C,T 8.237e-06 X:72676111 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 missense_variant 6.938771 0.99323 0.97872 0 0.999405232989193 0 0.881287038362445 FALSE 5.59713e-06 ENSE00000379229_006 ENSE00000379229 006 X 71895881 71896050 - 39 81 50 T G 71895962 702 89 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCACGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676111 72676112 72676112 exon 39 0.481481481481481 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCACGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 326 53 1 1 1 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA 0.00366200330826427 0.0603911320724216 0.993655074170572 0.967973432309657 NA 0.032026567690343 NA FALSE NA 1 0.791 . missense_variant MODERATE PHKA1 HGNC 8925 ENST00000373545 6/32 1 tolerated(0.76) possibly_damaging(0.905) NA CTT T,G 8.237e-06 X:72676112 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 missense_variant 0.807818 0.98296 0.87111 0 0.359630686000064 0 0.881287038362445 FALSE NA ENSE00000379229_007 ENSE00000379229 007 X 71895881 71896050 - 39 81 50 T C 71895989 703 62 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATGTGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676138 72676139 72676139 exon 12 0.148148148148148 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATGTGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 59 1302 0.974453950349028 0.998405820209497 0.986429885279262 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA -0.0218840463427076 0.0587969522819182 0.993655074170572 0.967973432309657 NA 0.0184564529696053 NA FALSE NA 1 1.584 . missense_variant MODERATE PHKA1 HGNC 8925 ENST00000373545 6/32 1 tolerated(0.58) benign(0.088) NA ATA T,C 8.237e-06 X:72676139 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 missense_variant 1.037249 0.97642 0.6587 0 0.827792675864824 0 0.881287038362445 FALSE 5.60246e-06 ENSE00000379229_008 ENSE00000379229 008 X 71895881 71896050 - 39 81 50 G A 71895995 704 56 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTTGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676144 72676145 72676145 exon 6 0.0740740740740741 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTTGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 156 795 0.982864434932795 0.914401611279298 0.948633023106046 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA -0.013473561758941 -0.0252072566482805 0.993655074170572 0.967973432309657 NA -0.0193404092036107 NA FALSE NA 0.085 -0.222 . synonymous_variant LOW PHKA1 HGNC 8925 ENST00000373545 6/32 COSM4111006&COSM4111007 1 NA CGA G,A 4.942e-05 X:72676145 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 synonymous_variant 0.932579 0.83164 0.06419 0 0.733846090086019 0 0.881287038362445 FALSE 5.60607e-05 ENSE00000379229_009 ENSE00000379229 009 X 71895881 71896050 - 39 81 50 A G 71896011 705 40 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTACTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676160 72676161 72676161 upstr_intron -11 -0.2 GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTACTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 954 168 0.997052036991824 0.998828970377709 0.997940503684767 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA 0.000714040300087926 0.0592201024501311 0.993655074170572 0.967973432309657 NA 0.0299670713751095 NA FALSE NA 0.705 2.018 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 5/31 1 NA AAT A,G 2.471e-05 X:72676161 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 intron_variant 0.505491 0.38801 0.58997 0 0.605175810754299 0.138856 0.881287038362445 FALSE 1.12253e-05 ENSE00000379229_011 ENSE00000379229 011 X 71895881 71896050 - 39 81 50 A G 71896024 707 27 GTATTTAGTAGTTATGACTTGCTAATCGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676173 72676174 72676174 upstr_intron -24 -0.46 GTATTTAGTAGTTATGACTTGCTAATCGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 4693 1437 0.920001790312291 0.999779822339826 0.959890806326059 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA -0.0763362063794443 0.0601709544122478 0.993655074170572 0.967973432309657 NA -0.00808262598359821 NA FALSE NA 0 -2.162 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 5/31 1 NA CAA A,G 1.647e-05 X:72676174 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 intron_variant 0.384411 0.23148 0.01966 0 0.684615580684131 0.0522614 0.881287038362445 FALSE NA ENSE00000379229_012 ENSE00000379229 012 X 71895881 71896050 - 39 81 50 A G 71896025 708 26 GTATTTAGTAGTTATGACTTGCTAACTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676174 72676175 72676175 upstr_intron -25 -0.48 GTATTTAGTAGTTATGACTTGCTAACTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 196 38 1 1 1 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA 0.00366200330826427 0.0603911320724216 0.993655074170572 0.967973432309657 NA 0.032026567690343 NA FALSE NA 0.02 1.182 rs149014464 intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 5/31 1 NA AAT A,G 0.027 X:72676175 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 intron_variant 1.158514 0.31107 0.12326 0 0.792241241158859 0.0522614 0.881287038362445 FALSE 0.0285714 ENSE00000379229_014 ENSE00000379229 014 X 71895881 71896050 - 39 81 50 A G 71896036 710 15 GTATTTAGTAGTTACGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 72676185 72676186 72676186 upstr_intron -36 -0.7 GTATTTAGTAGTTACGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG mutant NA NA NA NA NA 968 290 0.999360541437282 1 0.999680270718641 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA 0.00302254474554586 0.0603911320724216 0.993655074170572 0.967973432309657 NA 0.0317068384089838 NA FALSE NA 0.001 1.162 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 5/31 1 NA CAT A,G 8.237e-06 X:72676186 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379229 intron_variant 1.520228 0.23058 0.02964 0 0.714293999344431 0.0528517 0.881287038362445 FALSE NA ENSE00000379229_BRK ENSE00000379229 BRK X 71895881 71896050 - 39 81 50 A,G; T,T NA NA NA GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCTTGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGCCAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG 72676030 72676200 NA NA NA NA NA NA GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCTTGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGCCAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG control NA NA NA NA NA 1078 208 0 0 0 0.999379087773174 0.987931060567971 0.996337996691736 0.939608867927578 NA NA -0.996337996691736 -0.939608867927578 0.993655074170572 0.967973432309657 NA -0.967973432309657 NA TRUE NA NA NA NA NA NA PHKA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA1 NA NA NA ENSG00000067177 ENSE00000379229 NA NA NA NA NA NA NA 0.881287038362445 FALSE NA ENSE00000379234_000 ENSE00000379234 000 X 71873253 71873422 - 32 96 42 NA NA NA NA NA CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA 72653402 72653572 NA NA NA NA NA NA CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA natural NA NA NA NA NA 1485 1255 0.99154744635112 0.881689953193663 0.936618699772391 NA NA 0.99154744635112 0.881689953193663 NA NA 0 0 NA 0.936618699772391 NA 0 NA FALSE NA NA NA NA NA NA PHKA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA1 NA NA NA ENSG00000067177 ENSE00000379234 NA NA NA NA NA NA NA 0.881287038362445 FALSE NA ENSE00000379234_001 ENSE00000379234 001 X 71873253 71873422 - 32 96 42 G A 71873268 690 155 CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCTATAACATGTAGCTGA 72653402 72653572 72653417 72653418 72653418 downstr_intron 17 1.54838709677419 CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCTATAACATGTAGCTGA CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA mutant NA NA NA NA NA 108 393 0.934447105519932 0.999123680006933 0.966785392763432 NA NA 0.99154744635112 0.881689953193663 NA NA -0.057100340831188 0.117433726813271 NA 0.936618699772391 NA 0.0301666929910414 NA FALSE NA 0 -0.358 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 11/31 1 NA TGG G,A 8.238e-06 X:72653418 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379234 intron_variant -0.0125 0.13975 0.01447 0 0.244400742700542 0.0489611 0.881287038362445 FALSE NA ENSE00000379234_003 ENSE00000379234 003 X 71873253 71873422 - 32 96 42 T G 71873321 692 102 CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCCCTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA 72653402 72653572 72653470 72653471 72653471 exon -37 0.625 CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCCCTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA mutant NA NA NA NA NA 357 185 0.999653659413853 1 0.999826829706927 NA NA 0.99154744635112 0.881689953193663 NA NA 0.00810621306273374 0.118310046806337 NA 0.936618699772391 NA 0.0632081299345356 NA FALSE NA 0.003 -1.118 . synonymous_variant LOW PHKA1 HGNC 8925 ENST00000373545 11/32 1 NA GTG T,G 8.237e-06 X:72653471 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379234 synonymous_variant 0.766071 0.34169 0.04344 0 0.716794686698231 0 0.881287038362445 FALSE 1.69241e-05 ENSE00000379234_005 ENSE00000379234 005 X 71873253 71873422 - 32 96 42 G C 71873359 694 64 CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTGTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA 72653402 72653572 72653508 72653509 72653509 exon 22 0.229166666666667 CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTGTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA mutant NA NA NA NA NA 182 239 0.990605636201528 0.991754443560177 0.991180039880852 NA NA 0.99154744635112 0.881689953193663 NA NA -0.000941810149591604 0.110064490366514 NA 0.936618699772391 NA 0.0545613401084614 NA FALSE NA 1 3.3 . missense_variant MODERATE PHKA1 HGNC 8925 ENST00000373545 11/32 1 deleterious(0.03) possibly_damaging(0.718) NA AGA G,C 8.238e-06 X:72653509 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000379234 missense_variant 5.471108 0.97843 0.90424 0 0.998366423358202 0 0.881287038362445 FALSE 5.69995e-06 ENSE00000400053_000 ENSE00000400053 000 7 150913005 150913174 - 48 63 59 NA NA NA NA NA TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 NA NA NA NA NA NA TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG natural 54 84 0.982939163640877 0.936524591646549 0.959731877643713 2230 1196 0.886646717047701 0.799958392714715 0.843302554881208 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 0 0 0 0 0.959731877643713 0.843302554881208 0 0 0 FALSE FALSE NA NA NA NA NA ABCF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCF2 NA NA NA ENSG00000033050 ENSE00000400053 NA NA NA NA NA NA NA 0.995417497143895 TRUE NA ENSE00000400053_001 ENSE00000400053 001 7 150913005 150913174 - 48 63 59 C T 150913029 3130 146 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCAGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151215942 151215943 151215943 downstr_intron 24 1.51063829787234 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCAGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 80 102 0.851364084027508 0.803886465971077 0.827625274999292 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA -0.0352826330201931 0.0039280732563618 0.959731877643713 0.843302554881208 NA -0.0156772798819156 NA FALSE NA 0 -1.407 . intron_variant MODIFIER ABCF2 HGNC 71 ENST00000287844 12/14 1 NA CCG C,T 4.942e-05 7:151215943 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 intron_variant 0.059527 0.12801 0.03981 0.156188 0.838903207171608 0.136663 0.995417497143895 TRUE 4.88158e-05 ENSE00000400053_002 ENSE00000400053 002 7 150913005 150913174 - 48 63 59 G A 150913030 3131 145 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCTGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151215943 151215944 151215944 downstr_intron 23 1.48936170212766 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCTGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 257 251 0.959820523015852 0.980346986207171 0.970083754611512 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA 0.0731738059681515 0.180388593492456 0.959731877643713 0.843302554881208 NA 0.126781199730303 NA FALSE NA 0 -3.242 . intron_variant MODIFIER ABCF2 HGNC 71 ENST00000287844 12/14 1 NA CGG G,A 1.647e-05 7:151215944 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 intron_variant -0.152405 0.05009 0.00546 0.156188 0.856137937422636 0.136663 0.995417497143895 TRUE 2.03331e-05 ENSE00000400053_003 ENSE00000400053 003 7 150913005 150913174 - 48 63 59 C T 150913042 3132 133 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTAGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151215955 151215956 151215956 downstr_intron 11 1.23404255319149 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTAGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 18 73 0.8 0.8 0.8 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA -0.0866467170477008 4.16072852846838e-05 0.959731877643713 0.843302554881208 NA -0.043302554881208 NA FALSE NA 0.831 0.75 . intron_variant MODIFIER ABCF2 HGNC 71 ENST00000287844 12/14 1 NA CCA C,T 8.236e-06 7:151215956 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 intron_variant 1.875326 0.24021 0.1434 0.156188 0.860483685134391 0.365372 0.995417497143895 TRUE 4.06243e-06 ENSE00000400053_004 ENSE00000400053 004 7 150913005 150913174 - 48 63 59 G A 150913045 3133 130 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGTCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151215958 151215959 151215959 downstr_intron 8 1.17021276595745 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGTCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 25 55 0.993223644077174 0.95 0.971611822038587 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA 0.106576927029473 0.150041607285285 0.959731877643713 0.843302554881208 NA 0.128309267157379 NA FALSE NA 0.893 2.279 NA NA NA ABCF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:151215959 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 splice_region_variant 1.549935 0.27348 0.47533 0.156188 0.805466633419901 0.378253 0.995417497143895 TRUE 4.06141e-06 ENSE00000400053_008 ENSE00000400053 008 7 150913005 150913174 - 48 63 59 G C 150913092 3137 83 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATGCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151216005 151216006 151216006 exon 24 0.380952380952381 TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATGCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 1066 296 0.960625126311763 0.954468378399508 0.957546752355636 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA 0.073978409264062 0.154509985684793 0.959731877643713 0.843302554881208 NA 0.114244197474428 NA FALSE NA 1 2.375 . missense_variant MODERATE ABCF2 HGNC 71 ENST00000287844 12/15 1 deleterious(0) probably_damaging(0.991) NA GGA G,C 8.236e-06 7:151216006 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 missense_variant 5.691837 0.98291 0.97617 0.706548 0.997369055193967 0 0.995417497143895 TRUE 4.06075e-06 ENSE00000400053_011 ENSE00000400053 011 7 150913005 150913174 - 48 63 59 A G 150913148 3140 27 TATGTTTCTAACTGGGCTTCCTTTGTCTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151216061 151216062 151216062 upstr_intron -33 -0.542372881355932 TATGTTTCTAACTGGGCTTCCTTTGTCTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 1420 61 0.956283816188858 0.944897058986633 0.950590437587746 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA 0.0696370991411575 0.144938666271918 0.959731877643713 0.843302554881208 NA 0.107287882706538 NA FALSE NA 0 0.311 . intron_variant MODIFIER ABCF2 HGNC 71 ENST00000287844 11/14 1 NA AAA A,G 8.24e-06 7:151216062 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 intron_variant 0.297464 0.20586 0.06617 0.099367 0.553441180205985 0.0476178 0.995417497143895 TRUE 4.07057e-06 ENSE00000400053_012 ENSE00000400053 012 7 150913005 150913174 - 48 63 59 G C 150913155 3141 20 TATGTTTCTAACTGGGCTTGCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151216068 151216069 151216069 upstr_intron -40 -0.661016949152542 TATGTTTCTAACTGGGCTTGCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 127 19 0.996713803690946 0.989313331099408 0.993013567395177 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA 0.110067086643245 0.189354938384693 0.959731877643713 0.843302554881208 NA 0.149711012513969 NA FALSE NA 0.194 0.399 . intron_variant MODIFIER ABCF2 HGNC 71 ENST00000287844 11/14 1 NA GGA G,C 2.493e-05 7:151216069 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 intron_variant 0.017511 0.23778 0.16652 0.099367 0.567824723953851 0.0476178 0.995417497143895 TRUE 2.47672e-05 ENSE00000400053_013 ENSE00000400053 013 7 150913005 150913174 - 48 63 59 C T 150913160 3142 15 TATGTTTCTAACTGAGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151216073 151216074 151216074 upstr_intron -45 -0.745762711864407 TATGTTTCTAACTGAGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 173 895 0.993896951908044 0.995586365358475 0.994741658633259 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA 0.107250234860343 0.19562797264376 0.959731877643713 0.843302554881208 NA 0.151439103752051 NA FALSE NA 0 0.126 . intron_variant MODIFIER ABCF2 HGNC 71 ENST00000287844 11/14 1 NA CCC C,T 8.237e-06 7:151216074 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 intron_variant 0.38208 0.26814 0.10057 0.099367 0.701928528134786 0.0872784 0.995417497143895 TRUE 4.0784e-06 ENSE00000400053_014 ENSE00000400053 014 7 150913005 150913174 - 48 63 59 C T 150913161 3143 14 TATGTTTCTAACTAGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151216074 151216075 151216075 upstr_intron -46 -0.76271186440678 TATGTTTCTAACTAGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 665 239 0.961905645119733 0.98579858940881 0.973852117264272 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA 0.0752589280720325 0.185840196694095 0.959731877643713 0.843302554881208 NA 0.130549562383064 NA FALSE NA 0 -0.595 . intron_variant MODIFIER ABCF2 HGNC 71 ENST00000287844 11/14 1 NA CCA C,T 8.237e-06 7:151216075 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 intron_variant 0.091533 0.1617 0.0323 0.099367 0.730377522634444 0.0887428 0.995417497143895 TRUE 4.08167e-06 ENSE00000400053_015 ENSE00000400053 015 7 150913005 150913174 - 48 63 59 G T 150913163 3144 12 TATGTTTCTAAATGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 151216076 151216077 151216077 upstr_intron -48 -0.796610169491525 TATGTTTCTAAATGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG mutant NA NA NA NA NA 2839 229 0.971080344309713 0.976171607482376 0.973625975896045 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 NA NA 0.0844336272620124 0.176213214767661 0.959731877643713 0.843302554881208 NA 0.130323421014837 NA FALSE NA 0 0.084 . intron_variant MODIFIER ABCF2 HGNC 71 ENST00000287844 11/14 1 NA AGT G,T 8.236e-06 7:151216077 ABCF2 HGNC Symbol protein_coding 14740 ENSG00000033050 ENSE00000400053 intron_variant -0.061504 0.15934 0.03073 0.099367 0.59462331493597 0.0848219 0.995417497143895 TRUE 4.0814e-06 ENSE00000400053_BRK ENSE00000400053 BRK 7 150913005 150913174 - 48 63 59 A,G; T,T NA NA NA TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTTTCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGCCACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG 151215918 151216088 NA NA NA NA NA NA TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTTTCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGCCACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG control 19 39 0 0 0 NA NA NA NA NA 0.982939163640877 0.936524591646549 0.886646717047701 0.799958392714715 -0.982939163640877 -0.936524591646549 NA NA 0.959731877643713 0.843302554881208 -0.959731877643713 NA NA NA TRUE NA NA NA NA NA ABCF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCF2 NA NA NA ENSG00000033050 ENSE00000400053 NA NA NA NA NA NA NA 0.995417497143895 TRUE NA ENSE00000406138_000 ENSE00000406138 000 8 87549743 87549912 + 48 84 38 NA NA NA NA NA TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC 86537514 86537684 NA NA NA NA NA NA TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC natural 37 31 0.996647432261459 0.937395916640854 0.967021674451156 1997 1849 0.937667643684365 0.994773754834554 0.96622069925946 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 0 0 0 0 0.967021674451156 0.96622069925946 0 0 0 FALSE FALSE NA NA NA NA NA CPNE3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE3 NA NA NA ENSG00000085719 ENSE00000406138 NA NA NA NA NA NA NA 5.16184252829367e-13 FALSE NA ENSE00000406138_001 ENSE00000406138 001 8 87549743 87549912 + 48 84 38 C A 87549759 1596 17 GAACACCTCCACTCTGCTTTTCAAATTCAAATATTCACCTCTGTCCGATGAACCATTAGCCAGTTTCCATCAGATGTCTGCTTGTGGAATTCCAGGTATGGGTCTGACTTTCCAAATAGATCCTACATTTAAAACAAACAACAAAAAGCATTTTTTCTCCTCTGAACCCA 86537514 86537684 86537530 86537531 86537531 upstr_intron -32 -0.645833333333333 TGGGTTCAGAGGAGAAAAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC mutant NA NA NA NA NA 408 620 0.999291789459599 1 0.999645894729799 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 NA NA 0.0616241457752331 0.00522624516544601 0.967021674451156 0.96622069925946 NA 0.0334251954703396 NA FALSE NA 0.003 0.33 . intron_variant MODIFIER CPNE3 HGNC 2316 ENST00000517391 3/9 1 NA ACA C,A 8.237e-06 8:86537531 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000406138 intron_variant 0.355687 0.31348 0.1192 0.295142 0.607027516992344 0.0448725 5.16184252829367e-13 FALSE 4.09836e-06 ENSE00000406138_003 ENSE00000406138 003 8 87549743 87549912 + 48 84 38 T C 87549788 1598 46 GAACACCTCCACTCTGCTTTTCAAATTCAAATATTCACCTCTGTCCGATGAACCATTAGCCAGTTTCCATCAGATGTCTGCTTGTGGAATTCCAGGTATGGGTCTGACTTTCCAAATAGATCCTGCATTTAAAACAAACAACAAAAAGCATTTGTTCTCCTCTGAACCCA 86537514 86537684 86537559 86537560 86537560 upstr_intron -3 -0.0416666666666667 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGCAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC mutant NA NA NA NA NA 505 342 0.998358666960726 1 0.999179333480363 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 NA NA 0.0606910232763602 0.00522624516544601 0.967021674451156 0.96622069925946 NA 0.0329586342209031 NA FALSE NA 0.95 1.65 . intron_variant MODIFIER CPNE3 HGNC 2316 ENST00000517391 3/9 1 NA GTA T,C 8.237e-06 8:86537560 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000406138 splice_region_variant 1.438644 0.98377 0.67956 0.295142 0.902671265304369 0.790922 5.16184252829367e-13 FALSE 4.07216e-06 ENSE00000406138_006 ENSE00000406138 006 8 87549743 87549912 + 48 84 38 C T 87549812 1601 70 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACTCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC 86537514 86537684 86537583 86537584 86537584 exon 22 0.261904761904762 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACTCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC mutant NA NA NA NA NA 97 42 0.999574964395313 1 0.999787482197657 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 NA NA 0.0619073207109481 0.00522624516544601 0.967021674451156 0.96622069925946 NA 0.033566782938197 NA FALSE NA 1 7.82 . intron_variant MODIFIER CPNE3 HGNC 2316 ENST00000517391 3/9 1 NA CCC C,T 8.237e-06 8:86537584 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000406138 missense_variant 6.971446 0.99734 0.99398 0.732398 0.999066258041471 0 5.16184252829367e-13 FALSE NA ENSE00000406138_007 ENSE00000406138 007 8 87549743 87549912 + 48 84 38 C G 87549818 1602 76 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACGTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC 86537514 86537684 86537589 86537590 86537590 exon 28 0.333333333333333 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACGTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC mutant NA NA NA NA NA 47 897 0.957444090300902 0.995377318122396 0.976410704211649 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 NA NA 0.0197764466165365 0.000603563287841946 0.967021674451156 0.96622069925946 NA 0.0101900049521892 NA FALSE NA 0.814 0.031 . intron_variant MODIFIER CPNE3 HGNC 2316 ENST00000517391 3/9 1 NA CCT C,G 8.237e-06 8:86537590 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000406138 missense_variant 5.401173 0.98409 0.90836 0.732398 0.998416782985108 0 5.16184252829367e-13 FALSE 8.13206e-06 ENSE00000406138_010 ENSE00000406138 010 8 87549743 87549912 + 48 84 38 T C 87549844 1605 102 GAACACCTCCACTCTGCTTTTCAAATTCAAATATTCACCTCTGTCCGATGAACCATTAGCCAGTTTCCGTCAGATGTCTGCTTGTGGAATTCCAGGTATGGGTCTGACTTTCCAAATAGATCCTACATTTAAAACAAACAACAAAAAGCATTTGTTCTCCTCTGAACCCA 86537514 86537684 86537615 86537616 86537616 exon -31 0.642857142857143 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGACGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC mutant NA NA NA NA NA 526 1412 1 0.997786533116844 0.998893266558422 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 NA NA 0.0623323563156346 0.00301277828228963 0.967021674451156 0.96622069925946 NA 0.0326725672989621 NA FALSE NA 1 0.784 . intron_variant MODIFIER CPNE3 HGNC 2316 ENST00000517391 3/9 1 NA ATG T,C 8.237e-06 8:86537616 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000406138 synonymous_variant 0.678432 0.98082 0.89377 0.732398 0.582455795950974 0 5.16184252829367e-13 FALSE 4.06507e-06 ENSE00000406138_012 ENSE00000406138 012 8 87549743 87549912 + 48 84 38 A G 87549864 1607 122 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCGTCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC 86537514 86537684 86537635 86537636 86537636 exon -11 0.880952380952381 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCGTCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC mutant NA NA NA NA NA 15 97 1 1 1 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 NA NA 0.0623323563156346 0.00522624516544601 0.967021674451156 0.96622069925946 NA 0.0337793007405403 NA FALSE NA 1 9.343 . intron_variant MODIFIER CPNE3 HGNC 2316 ENST00000517391 3/9 1 NA CAT A,G 2.471e-05 8:86537636 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000406138 missense_variant 5.952163 0.99492 0.99445 0.732398 0.997840993659495 0 5.16184252829367e-13 FALSE 3.25272e-05 ENSE00000406138_013 ENSE00000406138 013 8 87549743 87549912 + 48 84 38 C T 87549866 1608 124 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATTGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC 86537514 86537684 86537637 86537638 86537638 exon -9 0.904761904761905 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATTGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC mutant NA NA NA NA NA 328 16 1 0.95 0.975 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 NA NA 0.0623323563156346 -0.044773754834554 0.967021674451156 0.96622069925946 NA 0.00877930074054029 NA FALSE NA 1 4.501 . intron_variant MODIFIER CPNE3 HGNC 2316 ENST00000517391 3/9 COSM751565 1 NA TCG C,T 8.237e-06 8:86537638 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000406138 missense_variant 7.887209 0.98584 0.93149 0.732398 0.999130952365363 0 5.16184252829367e-13 FALSE 4.06693e-06 ENSE00000406138_014 ENSE00000406138 014 8 87549743 87549912 + 48 84 38 G A 87549867 1609 125 GAACACCTCCACTCTGCTTTTCAAATTCAAATATTCACCTCTGTCTGATGAACCATTAGCCAGTTTCCATCAGATGTCTGCTTGTGGAATTCCAGGTATGGGTCTGACTTTCCAAATAGATCCTACATTTAAAACAAACAACAAAAAGCATTTGTTCTCCTCTGAACCCA 86537514 86537684 86537638 86537639 86537639 exon -8 0.916666666666667 TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCAGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC mutant NA NA NA NA NA 26 153 1 0.852609975164139 0.926304987582069 0.996647432261459 0.937395916640854 0.937667643684365 0.994773754834554 NA NA 0.0623323563156346 -0.142163779670415 0.967021674451156 0.96622069925946 NA -0.0399157116773904 NA FALSE NA 1 9.873 . intron_variant MODIFIER CPNE3 HGNC 2316 ENST00000517391 3/9 1 NA CGG G,A 8.237e-06 8:86537639 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000406138 missense_variant 5.966113 0.99615 0.99476 0.732398 0.998884046406436 0 5.16184252829367e-13 FALSE 1.22008e-05 ENSE00000406871_000 ENSE00000406871 000 17 26912304 26912473 - 33 93 44 NA NA NA NA NA TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 NA NA NA NA NA NA TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT natural 452 620 0.853582952126107 0.837497579797756 0.845540265961931 4599 4822 0.935243484978735 0.917707452406011 0.926475468692373 0.853582952126107 0.837497579797756 0.935243484978735 0.917707452406011 0 0 0 0 0.845540265961931 0.926475468692373 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003709397 NA NA NA NA NA NA NA NA NA NA ENSE00000406871_008 ENSE00000406871 008 17 26912304 26912473 - 33 93 44 G C 26912377 1103 97 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTAGTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585358 28585359 28585359 exon -41 0.56989247311828 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTAGTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 36 109 0 0 0 196 218 0.837963757943776 0.868285061277891 0.853124409610833 0.853582952126107 0.837497579797756 0.935243484978735 0.917707452406011 -0.853582952126107 -0.837497579797756 -0.0972797270349592 -0.0494223911281201 0.845540265961931 0.926475468692373 -0.845540265961931 -0.0733510590815397 0.772189206880391 FALSE TRUE 0.654 1.491 NA NA NA SPAG5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPAG5 NA NA NA ENSG00000076382 ENSE00003709397 missense_variant -0.431355 0.27741 0.44505 0.706548 0.824179869799528 0 7.25668525399221e-06 FALSE 1.21909e-05 ENSE00000406871_BRK ENSE00000406871 BRK 17 26912304 26912473 - 33 93 44 A,G; T,T NA NA NA TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTTTGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATCCGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 NA NA NA NA NA NA TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTTTGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATCCGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT control 11 31 0 0 0 958 1932 0.00860083163451111 0.0747416406244321 0.0416712361294716 0.853582952126107 0.837497579797756 0.935243484978735 0.917707452406011 -0.853582952126107 -0.837497579797756 -0.926642653344224 -0.842965811781578 0.845540265961931 0.926475468692373 -0.845540265961931 -0.884804232562901 0.0392639666009702 TRUE TRUE NA NA NA NA NA SPAG5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPAG5 NA NA NA ENSG00000076382 ENSE00003709397 NA NA NA NA NA NA NA 7.25668525399221e-06 FALSE NA ENSE00000411843_000 ENSE00000411843 000 2 211457552 211457721 + 51 78 41 NA NA NA NA NA TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 NA NA NA NA NA NA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA natural 29 52 0.980663212169994 0.895601538979259 0.938132375574626 5316 5984 0.97118515271382 0.972806454646902 0.971995803680361 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 0 0 0 0 0.938132375574626 0.971995803680361 0 0 0 FALSE FALSE NA NA NA NA NA CPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPS1 NA NA NA ENSG00000021826 ENSE00000411843 NA NA NA NA NA NA NA 0.0833573677195577 FALSE NA ENSE00000411843_001 ENSE00000411843 001 2 211457552 211457721 + 51 78 41 A G 211457567 4316 16 TTGACATTCATTGTTGCAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592842 210592843 210592843 upstr_intron -36 -0.686274509803922 TTGACATTCATTGTTGCAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 1459 458 0.998603335770696 0.997790949033109 0.998197142401902 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0274181830568766 0.0249844943862069 0.938132375574626 0.971995803680361 NA 0.0262013387215417 NA FALSE NA 0.001 0.093 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 11/38 1 NA TAC A,G 8.237e-06 2:210592843 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 intron_variant 0.582386 0.82819 0.3421 0.074636 0.666193098567864 0.154311 0.0833573677195577 FALSE 8.15714e-06 ENSE00000411843_003 ENSE00000411843 003 2 211457552 211457721 + 51 78 41 C T 211457596 4318 45 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTTCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592871 210592872 210592872 upstr_intron -7 -0.117647058823529 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTTCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 258 1304 1 0.978312220351311 0.989156110175656 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0288148472861802 0.00550576570440975 0.938132375574626 0.971995803680361 NA 0.017160306495295 NA FALSE NA 0.274 0.201 . splice_region_variant&intron_variant LOW CPS1 HGNC 2323 ENST00000430249 11/38 rs202117044 1 NA T:0 T:0.0002 TCC C,T 6.589e-05 2:210592872 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 splice_region_variant -0.28959 0.35443 0.18383 0.053691 0.596116651920629 0.522282 0.0833573677195577 FALSE 6.51784e-05 ENSE00000411843_006 ENSE00000411843 006 2 211457552 211457721 + 51 78 41 G A 211457615 4321 64 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGGGTTTGCTCTTATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592890 210592891 210592891 exon 13 0.166666666666667 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATAAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 1080 4699 0.998857082413665 0.997829874588822 0.998343478501244 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.027671929699845 0.0250234199419207 0.938132375574626 0.971995803680361 NA 0.0263476748208828 NA FALSE NA 1 7.176 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 1 tolerated(0.85) benign(0.013) NA TGA G,A 8.237e-06 2:210592891 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 2.451948 0.96486 0.90736 0.638212 0.940874003778022 0 0.0833573677195577 FALSE NA ENSE00000411843_007 ENSE00000411843 007 2 211457552 211457721 + 51 78 41 A C 211457616 4322 65 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGCGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592891 210592892 210592892 exon 14 0.179487179487179 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGCGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 620 1484 0.998664855361391 0.996594945719354 0.997629900540373 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0274797026475712 0.0237884910724525 0.938132375574626 0.971995803680361 NA 0.0256340968600118 NA FALSE NA 1 7.147 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 rs201171896 1 tolerated(0.3) benign(0.023) NA GAG A,C 8.237e-06 2:210592892 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 2.983148 0.97407 0.96574 0.638212 0.978181532205045 0 0.0833573677195577 FALSE 8.14445e-06 ENSE00000411843_008 ENSE00000411843 008 2 211457552 211457721 + 51 78 41 A T 211457618 4323 67 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGTGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592893 210592894 210592894 exon 16 0.205128205128205 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGTGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 348 699 0.842962076324634 1 0.921481038162317 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA -0.128223076389186 0.0271935453530983 0.938132375574626 0.971995803680361 NA -0.0505147655180437 NA FALSE NA 1 5.831 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 1 deleterious(0) possibly_damaging(0.757) NA GAG A,T 8.237e-06 2:210592894 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 5.655781 0.97378 0.95253 0.638212 0.992446386988557 0 0.0833573677195577 FALSE 4.0714e-06 ENSE00000411843_009 ENSE00000411843 009 2 211457552 211457721 + 51 78 41 A C 211457621 4324 70 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCCAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592896 210592897 210592897 exon 19 0.243589743589744 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCCAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 1318 1485 0.994144342545887 0.997275933275709 0.995710137910798 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0229591898320675 0.0244694786288069 0.938132375574626 0.971995803680361 NA 0.0237143342304372 NA FALSE NA 1 8.933 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 COSM4090776&COSM4090775 1 deleterious(0.03) possibly_damaging(0.818) NA CAA A,C 8.237e-06 2:210592897 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 4.896642 0.97407 0.97677 0.638212 0.98847763312501 0 0.0833573677195577 FALSE NA ENSE00000411843_010 ENSE00000411843 010 2 211457552 211457721 + 51 78 41 C A 211457625 4325 74 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGTGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592900 210592901 210592901 exon 23 0.294871794871795 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACACTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 873 1608 0.999588242502845 0.965555373932371 0.982571808217608 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0284030897890256 -0.00725108071453084 0.938132375574626 0.971995803680361 NA 0.0105760045372474 NA FALSE NA 1 7.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:210592901 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 6.893252 0.97912 0.97073 0.638212 0.997337170604146 0 0.0833573677195577 FALSE 4.07123e-06 ENSE00000411843_011 ENSE00000411843 011 2 211457552 211457721 + 51 78 41 C G 211457625 4326 74 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGCGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592900 210592901 210592901 exon 23 0.294871794871795 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACGCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 1995 1917 0.998640634994382 0.997356207897315 0.997998421445848 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0274554822805622 0.0245497532504129 0.938132375574626 0.971995803680361 NA 0.0260026177654875 NA FALSE NA 1 7.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00000411843 missense_variant 6.339483 0.97929 0.97188 0.638212 0.998588304924173 0 0.00856580592851277 FALSE 2.84986e-05 ENSE00000411843_012 ENSE00000411843 012 2 211457552 211457721 + 51 78 41 C T 211457625 4327 74 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACTCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592900 210592901 210592901 exon 23 0.294871794871795 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACTCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 651 1063 1 0.993699211017714 0.996849605508857 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0288148472861802 0.0208927563708124 0.938132375574626 0.971995803680361 NA 0.0248538018284963 NA FALSE NA 1 7.463 NA NA NA CPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPS1 NA NA NA ENSG00000021826 ENSE00000411843 missense_variant 7.047943 0.97852 0.96609 0.638212 0.999047148374621 0 0.0833573677195577 FALSE 4.07123e-06 ENSE00000411843_014 ENSE00000411843 014 2 211457552 211457721 + 51 78 41 T C 211457628 4329 77 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGGAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592903 210592904 210592904 exon 26 0.333333333333333 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTCCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 601 533 0.989800263901112 0.996117864767128 0.99295906433412 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0186151111872924 0.0233114101202266 0.938132375574626 0.971995803680361 NA 0.0209632606537595 NA FALSE NA 1 5.939 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 1 deleterious(0) benign(0.085) NA TTC T,C 8.237e-06 2:210592904 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 4.482702 0.97312 0.95403 0.638212 0.997424094201697 0 0.0833573677195577 FALSE 4.07047e-06 ENSE00000411843_015 ENSE00000411843 015 2 211457552 211457721 + 51 78 41 C G 211457629 4330 78 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAACAAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592904 210592905 210592905 exon 27 0.346153846153846 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTGTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 817 476 0.999697379725105 0.946682119845595 0.97318974978535 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0285122270112854 -0.0261243348013067 0.938132375574626 0.971995803680361 NA 0.00119394610498935 NA FALSE NA 0.989 0.224 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 1 tolerated(0.06) benign(0.004) NA TCT C,G 8.237e-06 2:210592905 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 2.832958 0.92598 0.7491 0.638212 0.986184020736544 0 0.0833573677195577 FALSE 4.07083e-06 ENSE00000411843_016 ENSE00000411843 016 2 211457552 211457721 + 51 78 41 C T 211457632 4331 81 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTTGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592907 210592908 210592908 exon 30 0.384615384615385 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTTGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 2352 591 0.998627168430761 0.990877163494609 0.994752165962685 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0274420157169415 0.0180707088477071 0.938132375574626 0.971995803680361 NA 0.0227563622823243 NA FALSE NA 0.478 -0.203 . synonymous_variant LOW CPS1 HGNC 2323 ENST00000430249 12/39 rs200465544&COSM2715636&COSM2715635 1 NA T:0 T:0.0002 TCG C,T 0.0002636 2:210592908 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 synonymous_variant 2.092772 0.90879 0.4215 0.638212 0.725473291028016 0 0.0833573677195577 FALSE 0.000386669 ENSE00000411843_017 ENSE00000411843 017 2 211457552 211457721 + 51 78 41 G T 211457638 4332 87 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTTCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592913 210592914 210592914 exon 36 0.461538461538462 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTTCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 1604 558 0.997143104219491 0.996212894122185 0.996677999170838 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0259579515056708 0.0234064394752828 0.938132375574626 0.971995803680361 NA 0.0246821954904768 NA FALSE NA 0.955 0.084 . synonymous_variant LOW CPS1 HGNC 2323 ENST00000430249 12/39 1 NA TGC G,T 8.237e-06 2:210592914 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 synonymous_variant 0.866749 0.93463 0.71288 0.638212 0.712201138733781 0 0.0833573677195577 FALSE 1.2212e-05 ENSE00000411843_018 ENSE00000411843 018 2 211457552 211457721 + 51 78 41 C T 211457647 4333 96 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCATCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592922 210592923 210592923 exon -34 0.576923076923077 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCATCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 2063 611 0.999330806743932 0.998963217565045 0.999147012154489 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0281456540301127 0.0261567629181433 0.938132375574626 0.971995803680361 NA 0.027151208474128 NA FALSE NA 1 1.8 . synonymous_variant LOW CPS1 HGNC 2323 ENST00000430249 12/39 rs372421311 1 NA T:0 T:0.0001 ACC C,T 2.471e-05 2:210592923 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 synonymous_variant 1.518411 0.94362 0.78461 0.615465 0.735680642138405 0 0.0833573677195577 FALSE 4.47639e-05 ENSE00000411843_021 ENSE00000411843 021 2 211457552 211457721 + 51 78 41 C T 211457659 4336 108 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACTCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592934 210592935 210592935 exon -22 0.730769230769231 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACTCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 377 4011 0.926909172623518 0.998937240048372 0.962923206335945 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA -0.044275980090302 0.0261307854014707 0.938132375574626 0.971995803680361 NA -0.00907259734441562 NA FALSE NA 0.977 0.139 rs148322072 synonymous_variant LOW CPS1 HGNC 2323 ENST00000430249 12/39 rs148322072 1 NA T:0 T:0.0001 CCC C,T 8.237e-06 2:210592935 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 synonymous_variant 1.886481 0.92821 0.65149 0.615465 0.561216927308465 0 0.0833573677195577 FALSE 4.07014e-06 ENSE00000411843_022 ENSE00000411843 022 2 211457552 211457721 + 51 78 41 C T 211457661 4337 110 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCTGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592936 210592937 210592937 exon -20 0.756410256410256 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCTGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 219 47 0.99051368342121 0.984933065355886 0.987723374388549 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0193285307073907 0.0121266107089847 0.938132375574626 0.971995803680361 NA 0.0157275707081877 NA FALSE NA 1 5.877 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 rs201407486&COSM1015862&COSM4090778&COSM4090777&COSM1591801&CM114316 1 deleterious(0.03) benign(0.245) NA CCG C,T 2.471e-05 2:210592937 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 5.573888 0.96787 0.91644 0.615465 0.996255822101987 0 0.0833573677195577 FALSE 3.6636e-05 ENSE00000411843_023 ENSE00000411843 023 2 211457552 211457721 + 51 78 41 G A 211457662 4338 111 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCTGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592937 210592938 210592938 exon -19 0.769230769230769 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCAGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 950 2243 0.995142547883471 0.995904679264572 0.995523613574021 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0239573951696509 0.0230982246176703 0.938132375574626 0.971995803680361 NA 0.0235278098936606 NA FALSE NA 0.025 -0.776 . synonymous_variant LOW CPS1 HGNC 2323 ENST00000430249 12/39 1 NA CGG G,A 8.237e-06 2:210592938 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 synonymous_variant 1.438906 0.87136 0.08823 0.615465 0.678990371637222 0 0.0833573677195577 FALSE 1.62845e-05 ENSE00000411843_024 ENSE00000411843 024 2 211457552 211457721 + 51 78 41 A G 211457669 4339 118 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAGTAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592944 210592945 210592945 exon -12 0.858974358974359 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAGTAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 869 2343 0.841907774485981 0.991631138846275 0.916769456666128 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA -0.129277378227839 0.0188246841993729 0.938132375574626 0.971995803680361 NA -0.0552263470142329 NA FALSE NA 1 5.983 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 1 tolerated(0.46) benign(0) NA AAT A,G 3.295e-05 2:210592945 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 1.961715 0.96176 0.95158 0.615465 0.987850670380287 0 0.0833573677195577 FALSE 1.62851e-05 ENSE00000411843_025 ENSE00000411843 025 2 211457552 211457721 + 51 78 41 T C 211457670 4340 119 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTGTTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592945 210592946 210592946 exon -11 0.871794871794872 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAACAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 631 1107 0.999542568463706 0.992830631169151 0.996186599816429 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0283574157498864 0.0200241765222494 0.938132375574626 0.971995803680361 NA 0.0241907961360679 NA FALSE NA 1 3.184 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 12/39 rs201955205 1 tolerated(1) benign(0) NA C:0 C:0.0005 ATA C,C 0.00014 2:210592946 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 missense_variant 0.941262 0.92205 0.13585 0.615465 0.398317050487333 0 0.0833573677195577 FALSE 0.000134347 ENSE00000411843_026 ENSE00000411843 026 2 211457552 211457721 + 51 78 41 A G 211457683 4341 132 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTGCGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592958 210592959 210592959 downstr_intron 3 1.075 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTGCGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 754 265 0.800691834453175 0.796299167110755 0.798495500781965 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA -0.170493318260645 -0.176507287536147 0.938132375574626 0.971995803680361 NA -0.173500302898396 NA FALSE NA 1 5.632 . splice_region_variant&intron_variant LOW CPS1 HGNC 2323 ENST00000430249 12/38 rs369054521 1 NA TAC A,G 8.237e-06 2:210592959 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 splice_region_variant 1.851804 0.97377 0.96288 0.053691 0.976527170525649 0.981625 0.0833573677195577 FALSE NA ENSE00000411843_027 ENSE00000411843 027 2 211457552 211457721 + 51 78 41 C T 211457684 4342 133 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTATGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 210592959 210592960 210592960 downstr_intron 4 1.1 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTATGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 2126 588 0.998774073360045 0.983241768161698 0.991007920760871 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0275889206462248 0.0104353135147958 0.938132375574626 0.971995803680361 NA 0.0190121170805103 NA FALSE NA 0.998 0.253 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:210592960 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 splice_region_variant 0.054223 0.32641 0.24527 0.053691 0.531940220490537 0.306235 0.0833573677195577 FALSE 3.25974e-05 ENSE00000411843_028 ENSE00000411843 028 2 211457552 211457721 + 51 78 41 C G 211457684 4343 133 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGACCTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592959 210592960 210592960 downstr_intron 4 1.1 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTAGGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 130 365 1 0.91072567677172 0.95536283838586 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0288148472861802 -0.0620807778751821 0.938132375574626 0.971995803680361 NA -0.0166329652945009 NA FALSE NA 0.998 0.253 NA NA NA CPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPS1 NA NA NA ENSG00000021826 ENSE00000411843 splice_region_variant -0.223981 0.36466 0.55652 0.053691 0.509384625019609 0.306235 0.0833573677195577 FALSE 8.14936e-06 ENSE00000411843_029 ENSE00000411843 029 2 211457552 211457721 + 51 78 41 G A 211457685 4344 134 TTTTTTTTGCATACATAATAGGCCTCATCTTTTTGATGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592960 210592961 210592961 downstr_intron 5 1.125 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACATCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 1654 1062 0.03724803170058 0.00837468439853472 0.0228113580495574 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA -0.93393712101324 -0.964431770248367 0.938132375574626 0.971995803680361 NA -0.949184445630803 NA TRUE NA 1 4.485 . splice_region_variant&intron_variant LOW CPS1 HGNC 2323 ENST00000430249 12/38 COSM1614250&COSM1614249 1 NA CGT G,A 1.648e-05 2:210592961 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 splice_region_variant 0.403149 0.51228 0.70684 0.053691 0.524669844326968 0.965891 0.0833573677195577 FALSE 1.6299e-05 ENSE00000411843_031 ENSE00000411843 031 2 211457552 211457721 + 51 78 41 T C 211457704 4346 153 TTTTTTTTGCATACATAGTAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592979 210592980 210592980 downstr_intron 24 1.6 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTACTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 220 1237 1 1 1 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0288148472861802 0.0271935453530983 0.938132375574626 0.971995803680361 NA 0.0280041963196392 NA FALSE NA 0 0.521 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 12/38 1 NA ATT T,C 8.24e-06 2:210592980 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 intron_variant -0.309884 0.29983 0.13783 0.053691 0.479114383466547 0.119696 0.0833573677195577 FALSE 3.67524e-05 ENSE00000411843_032 ENSE00000411843 032 2 211457552 211457721 + 51 78 41 T C 211457705 4347 154 TTTTTTTTGCATACATGATAGGCCTCATCTTTTTGACGTACCTCAGTGTCTATTGGCCCCGGGGTGACCTCTGGGTGGAACTGCACAGCGAAGAAGGGTTTGCTCTCATGCATAATCCCCTAAAGGAATAAGAAACAGGAAGAAATTCCTTCTGTAACAATGAATGTCAA 210592827 210592997 210592980 210592981 210592981 downstr_intron 25 1.625 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATCATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 243 356 1 1 1 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0288148472861802 0.0271935453530983 0.938132375574626 0.971995803680361 NA 0.0280041963196392 NA FALSE NA 0 0.588 NA NA NA CPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:210592981 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 intron_variant -0.321932 0.23392 0.16717 0.053691 0.4553501375245 0.119696 0.0833573677195577 FALSE 4.08493e-06 ENSE00000411843_034 ENSE00000411843 034 2 211457552 211457721 + 51 78 41 A T 211457706 4349 155 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTTTGTATGCAAAAAAAA 210592827 210592997 210592981 210592982 210592982 downstr_intron 26 1.65 TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTTTGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA mutant NA NA NA NA NA 132 483 0.986976452692558 0.999921168779989 0.993448810736273 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA 0.0157912999787378 0.0271147141330874 0.938132375574626 0.971995803680361 NA 0.0214530070559126 NA FALSE NA 0 -0.77 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 12/38 1 NA TAT A,T 1.648e-05 2:210592982 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000411843 intron_variant -0.365447 0.19312 0.0784 0.053691 0.515326434668067 0.0851235 0.0833573677195577 FALSE 1.63463e-05 ENSE00000411843_BRK ENSE00000411843 BRK 2 211457552 211457721 + 51 78 41 A,G; T,T NA NA NA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTTTGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGCCACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA 210592827 210592997 NA NA NA NA NA NA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTTTGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGCCACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA control NA NA NA NA NA 125 465 0 0.000688412729736433 0.000344206364868216 0.980663212169994 0.895601538979259 0.97118515271382 0.972806454646902 NA NA -0.97118515271382 -0.972118041917165 0.938132375574626 0.971995803680361 NA -0.971651597315493 NA TRUE NA NA NA NA NA NA CPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPS1 NA NA NA ENSG00000021826 ENSE00000411843 NA NA NA NA NA NA NA 0.0833573677195577 FALSE NA ENSE00000412978_000 ENSE00000412978 000 X 149912789 149912958 + 44 93 33 NA NA NA NA NA ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT 150744316 150744486 NA NA NA NA NA NA ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT natural 480 818 0.851208872518851 0.863759722986779 0.857484297752815 15062 14491 0.86115129139318 0.827941668671117 0.844546480032148 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 0 0 0 0 0.857484297752815 0.844546480032148 0 0 0 FALSE FALSE NA NA NA NA NA MTMR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR1 NA NA NA ENSG00000063601 ENSE00003522742 NA NA NA NA NA NA NA 0.982418902141347 TRUE NA ENSE00000412978_001 ENSE00000412978 001 X 149912789 149912958 + 44 93 33 C T 149912800 1071 12 ACTATAACATATGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT 150744316 150744486 150744327 150744328 150744328 upstr_intron -33 -0.727272727272727 ACTATAACATATGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT mutant NA NA NA NA NA 209 1310 0.977575919939238 0.996131690157092 0.986853805048165 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 NA NA 0.116424628546058 0.168190021485975 0.857484297752815 0.844546480032148 NA 0.142307325016017 NA FALSE NA 0 -0.773 . intron_variant&NMD_transcript_variant MODIFIER MTMR1 HGNC 7449 ENST00000485376 11/16 1 NA ACG C,T 8.237e-06 X:150744328 MTMR1 HGNC Symbol protein_coding 72132 ENSG00000063601 ENSE00003522742 intron_variant -0.302885 0.18793 0.03578 0 0.797692724431658 0.0521688 0.982418902141347 TRUE NA ENSE00000412978_002 ENSE00000412978 002 X 149912789 149912958 + 44 93 33 G A 149912801 1072 13 ACTATAACATACATTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT 150744316 150744486 150744328 150744329 150744329 upstr_intron -32 -0.704545454545455 ACTATAACATACATTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT mutant NA NA NA NA NA 764 911 0.98013336722059 0.989490894680081 0.984812130950335 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 NA NA 0.11898207582741 0.161549226008963 0.857484297752815 0.844546480032148 NA 0.140265650918187 NA FALSE NA 0 -1.653 . intron_variant&NMD_transcript_variant MODIFIER MTMR1 HGNC 7449 ENST00000485376 11/16 1 NA CGT G,A 5.766e-05 X:150744329 MTMR1 HGNC Symbol protein_coding 72132 ENSG00000063601 ENSE00003522742 intron_variant -0.169992 0.13616 0.00373 0 0.741073377814308 0.0521688 0.982418902141347 TRUE 4.6565e-05 ENSE00000412978_005 ENSE00000412978 005 X 149912789 149912958 + 44 93 33 G A 149912846 1075 58 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGATAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT 150744316 150744486 150744373 150744374 150744374 exon 14 0.150537634408602 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGATAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT mutant NA NA NA NA NA 451 463 0.999083917137442 0.999090685968901 0.999087301553172 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 NA NA 0.137932625744262 0.171149017297784 0.857484297752815 0.844546480032148 NA 0.154540821521023 NA FALSE NA 1 9.813 . missense_variant&NMD_transcript_variant MODERATE MTMR1 HGNC 7449 ENST00000485376 12/17 1 deleterious(0) probably_damaging(0.999) NA GGT G,A 3.295e-05 X:150744374 MTMR1 HGNC Symbol protein_coding 72132 ENSG00000063601 ENSE00003522742 missense_variant 6.983101 0.99585 0.9923 0 0.998229861911663 0 0.982418902141347 TRUE 1.69341e-05 ENSE00000412978_006 ENSE00000412978 006 X 149912789 149912958 + 44 93 33 T A 149912850 1076 62 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAAAGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT 150744316 150744486 150744377 150744378 150744378 exon 18 0.193548387096774 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAAAGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT mutant NA NA NA NA NA 1682 895 0.993537639291339 0.991062153064474 0.992299896177907 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 NA NA 0.132386347898159 0.163120484393357 0.857484297752815 0.844546480032148 NA 0.147753416145758 NA FALSE NA 0.99 0.209 rs184040491 missense_variant&NMD_transcript_variant MODERATE MTMR1 HGNC 7449 ENST00000485376 12/17 1 deleterious(0.01) benign(0.048) NA ATG T,A 1.647e-05 X:150744378 MTMR1 HGNC Symbol protein_coding 72132 ENSG00000063601 ENSE00003522742 missense_variant 4.717592 0.98243 0.90485 0 0.982111713488907 0 0.982418902141347 TRUE NA ENSE00000412978_007 ENSE00000412978 007 X 149912789 149912958 + 44 93 33 G A 149912862 1077 74 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCAGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT 150744316 150744486 150744389 150744390 150744390 exon 30 0.32258064516129 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCAGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT mutant NA NA NA NA NA 1104 19 0.806062280423386 0.830637518005893 0.818349899214639 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 NA NA -0.0550890109697943 0.00269584933477607 0.857484297752815 0.844546480032148 NA -0.0261965808175091 NA FALSE NA 0 -8.42 . synonymous_variant&NMD_transcript_variant LOW MTMR1 HGNC 7449 ENST00000485376 12/17 1 NA CGG G,A 8.237e-06 X:150744390 MTMR1 HGNC Symbol protein_coding 72132 ENSG00000063601 ENSE00003522742 synonymous_variant 1.617857 0.06204 0.00859 0 0.6281863767092 0 0.982418902141347 TRUE 5.61249e-06 ENSE00000412978_008 ENSE00000412978 008 X 149912789 149912958 + 44 93 33 G T 149912889 1078 101 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTTCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT 150744316 150744486 150744416 150744417 150744417 exon -37 0.612903225806452 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTTCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT mutant NA NA NA NA NA 1379 870 0.891879673100844 0.924943127517911 0.908411400309378 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 NA NA 0.0307283817076639 0.0970014588467939 0.857484297752815 0.844546480032148 NA 0.0638649202772289 NA FALSE NA 0.003 -1.286 . synonymous_variant&NMD_transcript_variant LOW MTMR1 HGNC 7449 ENST00000485376 12/17 1 NA TGC G,T 1.647e-05 X:150744417 MTMR1 HGNC Symbol protein_coding 72132 ENSG00000063601 ENSE00003522742 synonymous_variant 0.672538 0.89058 0.04925 0 0.754956876426085 0 0.982418902141347 TRUE 5.60852e-06 ENSE00000412978_009 ENSE00000412978 009 X 149912789 149912958 + 44 93 33 T G 149912936 1079 148 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTGCAAGTATATTTCTATATAGTCT 150744316 150744486 150744463 150744464 150744464 downstr_intron 11 1.34375 ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTGCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT mutant NA NA NA NA NA 451 3510 0.872796265763586 0.782809941997776 0.827803103880681 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 NA NA 0.0116449743704059 -0.0451317266733413 0.857484297752815 0.844546480032148 NA -0.0167433761514677 NA FALSE NA 0 0.53 . intron_variant&NMD_transcript_variant MODIFIER MTMR1 HGNC 7449 ENST00000485376 12/16 1 NA TTC T,G 8.237e-06 X:150744464 MTMR1 HGNC Symbol protein_coding 72132 ENSG00000063601 ENSE00003522742 intron_variant 1.183413 0.26271 0.0732 0 0.627485498040164 0.088125 0.982418902141347 TRUE 5.70731e-06 ENSE00000412978_BRK ENSE00000412978 BRK X 149912789 149912958 + 44 93 33 A,G; T,T NA NA NA ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCTTCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGCCGAGAGATTTCAAGTATATTTCTATATAGTCT 150744316 150744486 NA NA NA NA NA NA ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCTTCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGCCGAGAGATTTCAAGTATATTTCTATATAGTCT ACTATAACATACGTTAAAACGTTTAACCTTCTGTTTCTGTTCAGCGAGTGGGCCATGGTAATGACAACCATGCGGATGCTGACCGATCTCCCATATTTCTGCAGTTTGTTGATTGTGTTTGGCAAATGACAAGGCAGGTGAGAGATTTCAAGTATATTTCTATATAGTCT control NA NA NA NA NA 435 721 0.100648422022688 0.0590668280400251 0.0798576250313565 0.851208872518851 0.863759722986779 0.86115129139318 0.827941668671117 NA NA -0.760502869370492 -0.768874840631092 0.857484297752815 0.844546480032148 NA -0.764688855000792 NA TRUE NA NA NA NA NA NA MTMR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR1 NA NA NA ENSG00000063601 ENSE00003522742 NA NA NA NA NA NA NA 0.982418902141347 TRUE NA ENSE00000430832_000 ENSE00000430832 000 17 3486599 3486768 - 33 93 44 NA NA NA NA NA AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 NA NA NA NA NA NA AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT natural NA NA NA NA NA 1914 2781 0.786277308812641 0.811224182859741 0.798750745836191 NA NA 0.786277308812641 0.811224182859741 NA NA 0 0 NA 0.798750745836191 NA 0 NA FALSE NA NA NA NA NA NA SHPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPV1 NA NA NA ENSG00000196689 ENSE00003786814 NA NA NA NA NA NA NA 5.63846239630988e-14 FALSE NA ENSE00000430832_001 ENSE00000430832 001 17 3486599 3486768 - 33 93 44 T C 3486613 343 156 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACGTTGTGAGTTTCCAT 3583304 3583474 3583318 3583319 3583319 downstr_intron 19 1.59375 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACGTTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant NA NA NA NA NA 470 67 0.87832158592555 0.978141374485019 0.928231480205285 NA NA 0.786277308812641 0.811224182859741 NA NA 0.092044277112909 0.166917191625278 NA 0.798750745836191 NA 0.129480734369094 NA FALSE NA 0 -2.426 . intron_variant MODIFIER SHPK Uniprot_gn 1492 ENST00000572705 10/16 1 NA ATG T,C 8.28e-06 17:3583319 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 intron_variant -0.541262 0.07566 0.00544 0.078448 0.289502925105998 0.046323 5.63846239630988e-14 FALSE NA ENSE00000430832_003 ENSE00000430832 003 17 3486599 3486768 - 33 93 44 C T 3486625 345 144 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCATTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583330 3583331 3583331 downstr_intron 7 1.21875 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCATTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant 38 35 0.835439571411215 0.85 0.842719785705608 514 774 0.821417552527344 0.844913442152465 0.833165497339905 NA NA 0.786277308812641 0.811224182859741 NA NA 0.0351402437147029 0.0336892592927241 NA 0.798750745836191 NA 0.0344147515037135 NA FALSE NA 0.204 -0.139 . splice_region_variant&intron_variant LOW SHPK Uniprot_gn 1492 ENST00000572705 10/16 1 NA ACG C,T 2.483e-05 17:3583331 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 splice_region_variant 0.442927 0.10088 0.00293 0.078448 0.822317153666402 0.0943294 5.63846239630988e-14 FALSE NA ENSE00000430832_005 ENSE00000430832 005 17 3486599 3486768 - 33 93 44 G T 3486626 347 143 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGAGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583331 3583332 3583332 downstr_intron 6 1.1875 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGAGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant 67 19 0 0 0 153 298 0 0 0 NA NA 0.786277308812641 0.811224182859741 NA NA -0.786277308812641 -0.811224182859741 NA 0.798750745836191 NA -0.798750745836191 NA TRUE NA 0.319 0.296 NA NA NA SHPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:3583332 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 splice_region_variant 0.243557 0.2728 0.19281 0.078448 0.765289273072271 0.104862 5.63846239630988e-14 FALSE 8.63371e-06 ENSE00000430832_007 ENSE00000430832 007 17 3486599 3486768 - 33 93 44 T C 3486635 349 134 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGGGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583340 3583341 3583341 exon -4 0.967741935483871 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGGGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant NA NA NA NA NA 256 28 0.00117393167780876 0 0.000586965838904382 NA NA 0.786277308812641 0.811224182859741 NA NA -0.785103377134832 -0.811224182859741 NA 0.798750745836191 NA -0.798163779997287 NA TRUE NA 1 1.165 . synonymous_variant LOW SHPK Uniprot_gn 1492 ENST00000572705 10/17 rs201371426 1 NA CTC T,C 1.655e-05 17:3583341 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 synonymous_variant 0.157996 0.98373 0.94106 0.554377 0.771000344724089 0 5.63846239630988e-14 FALSE 2.9655e-05 ENSE00000430832_010 ENSE00000430832 010 17 3486599 3486768 - 33 93 44 T A 3486653 352 116 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGTGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583358 3583359 3583359 exon -22 0.774193548387097 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGTGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant NA NA NA NA NA 649 411 0.000462375350157656 0.00156026940043021 0.00101132237529394 NA NA 0.786277308812641 0.811224182859741 NA NA -0.785814933462484 -0.809663913459311 NA 0.798750745836191 NA -0.797739423460897 NA TRUE NA 0.099 0.224 . synonymous_variant LOW SHPK Uniprot_gn 1492 ENST00000572705 10/17 1 NA CTC T,A 8.275e-06 17:3583359 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 synonymous_variant 1.366479 0.89599 0.27193 0.554377 0.818631549533857 0 5.63846239630988e-14 FALSE 8.35268e-06 ENSE00000430832_013 ENSE00000430832 013 17 3486599 3486768 - 33 93 44 A G 3486669 355 100 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCCGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583374 3583375 3583375 exon -38 0.602150537634409 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCCGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant 17 24 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.786277308812641 0.811224182859741 NA NA NA NA NA 0.798750745836191 NA NA NA NA NA 1 8.243 . missense_variant MODERATE SHPK Uniprot_gn 1492 ENST00000572705 10/17 1 tolerated(0.05) probably_damaging(0.926) NA CAG A,G 1.655e-05 17:3583375 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 missense_variant 6.230563 0.99084 0.99548 0.554377 0.999152768516743 0 5.63846239630988e-14 FALSE NA ENSE00000430832_016 ENSE00000430832 016 17 3486599 3486768 - 33 93 44 A G 3486680 358 89 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACCGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583385 3583386 3583386 exon 45 0.483870967741935 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACCGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant 11 55 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.786277308812641 0.811224182859741 NA NA NA NA NA 0.798750745836191 NA NA NA NA NA 0.001 -0.105 . synonymous_variant LOW SHPK Uniprot_gn 1492 ENST00000572705 10/17 rs201874993 1 NA CAG A,G 1.655e-05 17:3583386 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 synonymous_variant 0.651218 0.95237 0.14518 0.554377 0.6607620987728 0 5.63846239630988e-14 FALSE NA ENSE00000430832_018 ENSE00000430832 018 17 3486599 3486768 - 33 93 44 G A 3486688 360 81 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCTGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583393 3583394 3583394 exon 37 0.397849462365591 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCTGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant NA NA NA NA NA 36 399 0.00847476172138332 0.000802457115095538 0.00463860941823943 NA NA 0.786277308812641 0.811224182859741 NA NA -0.777802547091258 -0.810421725744646 NA 0.798750745836191 NA -0.794112136417952 NA TRUE NA 1 4.427 . stop_gained HIGH SHPK Uniprot_gn 1492 ENST00000572705 10/17 1 NA HC CGG G,A 8.277e-06 17:3583394 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 stop_gained 13.766053 0.98624 0.94862 0.615465 0.998358002343064 0 5.63846239630988e-14 FALSE NA ENSE00000430832_021 ENSE00000430832 021 17 3486599 3486768 - 33 93 44 G A 3486702 363 67 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583407 3583408 3583408 exon 23 0.247311827956989 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAATTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant NA NA NA NA NA 123 229 0 0.0428996509658325 0.0214498254829162 NA NA 0.786277308812641 0.811224182859741 NA NA -0.786277308812641 -0.768324531893909 NA 0.798750745836191 NA -0.777300920353275 NA TRUE NA 0.816 2.865 rs224534 missense_variant MODERATE SHPK Uniprot_gn 1492 ENST00000572705 10/17 rs224534&COSM3755419&COSM3755420&COSM3755418 1 deleterious(0.01) benign(0.033) A:0.3780 A:0.0378 A:0.353 NA A:0.7679 A:0.3718 A:0.4601 A:0.0852 A:0.3436 AGT G,A 0.377 17:3583408 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 missense_variant 1.502262 0.26305 0.67854 0.615465 0.987785266373972 0 5.63846239630988e-14 FALSE 0.393551 ENSE00000430832_023 ENSE00000430832 023 17 3486599 3486768 - 33 93 44 G A 3486724 365 45 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGTCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583429 3583430 3583430 exon 1 0.010752688172043 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGTCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant NA NA NA NA NA 45 3983 0 8.02778833327082e-05 4.01389416663541e-05 NA NA 0.786277308812641 0.811224182859741 NA NA -0.786277308812641 -0.811143904976409 NA 0.798750745836191 NA -0.798710606894525 NA TRUE NA 1 5.618 . missense_variant&splice_region_variant MODERATE SHPK Uniprot_gn 1492 ENST00000572705 10/17 1 deleterious(0.04) possibly_damaging(0.862) NA GGC G,A 1.658e-05 17:3583430 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 missense_variant 4.441638 0.98738 0.97659 0.615465 0.998933656047126 0 5.63846239630988e-14 FALSE 1.38052e-05 ENSE00000430832_024 ENSE00000430832 024 17 3486599 3486768 - 33 93 44 C T 3486725 366 44 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAACCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583430 3583431 3583431 upstr_intron -1 0 AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAACCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant NA NA NA NA NA 197 1559 0.00152663472287087 0.0186975042139861 0.0101120694684285 NA NA 0.786277308812641 0.811224182859741 NA NA -0.78475067408977 -0.792526678645755 NA 0.798750745836191 NA -0.788638676367763 NA TRUE NA 1 6.85 . splice_acceptor_variant HIGH SHPK Uniprot_gn 1492 ENST00000572705 9/16 COSM3402797&COSM3402798&COSM3402796 1 NA HC GCT C,T 2.487e-05 17:3583431 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 splice_acceptor_variant 5.032047 0.99413 0.99521 0.078448 0.995364044028665 0.965808 5.63846239630988e-14 FALSE NA ENSE00000430832_029 ENSE00000430832 029 17 3486599 3486768 - 33 93 44 T C 3486756 371 13 AACGAATGAGTAGATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT 3583304 3583474 3583461 3583462 3583462 upstr_intron -32 -0.704545454545455 AACGAATGAGTAGATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT AACGAATGAGTAAATGGAGTTACCAACTTCTCTGCATCTCACAGCCTCCCTTTAAGATGGAAAAAACTGGAGACTATTTCCGAGTTACTGGAGAGATCCTGTCTGTGTTAGGAGGAGTCTACTTCTTTTTCCGAGGGGTAAGCGTTCCTTCCCACATTGTGAGTTTCCAT mutant NA NA NA NA NA 323 386 0.8 0.8 0.8 NA NA 0.786277308812641 0.811224182859741 NA NA 0.0137226911873588 -0.0112241828597412 NA 0.798750745836191 NA 0.00124925416380878 NA FALSE NA 0.002 1.717 . intron_variant MODIFIER SHPK Uniprot_gn 1492 ENST00000572705 9/16 rs532783108 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTT T,C 8.402e-06 17:3583462 TRPV1 HGNC Symbol protein_coding 43967 ENSG00000196689 ENSE00003786814 intron_variant -0.237047 0.17998 0.16179 0.053691 0.415740587374818 0.0634686 5.63846239630988e-14 FALSE 5.59917e-06 ENSE00000434370_000 ENSE00000434370 000 7 97949326 97949495 - 44 72 54 NA NA NA NA NA TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA 98320013 98320183 NA NA NA NA NA NA TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA natural NA NA NA NA NA 984 1609 0.975782958922834 0.983320981563312 0.979551970243073 NA NA 0.975782958922834 0.983320981563312 NA NA 0 0 NA 0.979551970243073 NA 0 NA FALSE NA NA NA NA NA NA BAIAP2L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BAIAP2L1 NA NA NA ENSG00000006453 ENSE00003577805 NA NA NA NA NA NA NA 0.042773725631072 FALSE NA ENSE00000434370_011 ENSE00000434370 011 7 97949326 97949495 - 44 72 54 A G 97949376 1977 120 TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATACATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA 98320013 98320183 98320063 98320064 98320064 exon -7 0.916666666666667 TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATACATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA mutant NA NA NA NA NA 576 653 1 1 1 NA NA 0.975782958922834 0.983320981563312 NA NA 0.0242170410771659 0.0166790184366882 NA 0.979551970243073 NA 0.0204480297569271 NA FALSE NA 0.364 -0.483 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BAIAP2L1 HGNC 21649 ENST00000462558 5/10 1 NA TAT A,G 8.236e-06 7:98320064 BAIAP2L1 HGNC Symbol protein_coding 109417 ENSG00000006453 ENSE00003577805 synonymous_variant -0.756279 0.88914 0.09546 0.706298 0.39622918679411 0 0.042773725631072 FALSE 8.13921e-06 ENSE00000434370_017 ENSE00000434370 017 7 97949326 97949495 - 44 72 54 A G 97949418 1983 78 TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATCATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA 98320013 98320183 98320105 98320106 98320106 exon 24 0.333333333333333 TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATCATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA mutant NA NA NA NA NA 222 651 1 1 1 NA NA 0.975782958922834 0.983320981563312 NA NA 0.0242170410771659 0.0166790184366882 NA 0.979551970243073 NA 0.0204480297569271 NA FALSE NA 1 0.548 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BAIAP2L1 HGNC 21649 ENST00000462558 5/10 1 NA TAA A,G 0.0002141 7:98320106 BAIAP2L1 HGNC Symbol protein_coding 109417 ENSG00000006453 ENSE00003577805 synonymous_variant 0.685666 0.90495 0.68517 0.732398 0.765991879841016 0 0.042773725631072 FALSE 0.000166797 ENSE00000434370_025 ENSE00000434370 025 7 97949326 97949495 - 44 72 54 T G 97949481 1991 15 TTATTTTGCTTAAACTCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA 98320013 98320183 98320168 98320169 98320169 upstr_intron -40 -0.722222222222222 TTATTTTGCTTAAACTCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA TTATTTTGCTTAAAATCTCAAACCTGGTATGAATTTATTTCCTTTTGTTAACAGTTTAAAAAATTCCACAAAGAGATTATCCATGAGCTGGAGAAGAAGATAGAACTTGACGTGAAATATATGAACGTAAGTGCATGGTTTTCCTCCAGCCCCAGCCTTGGGCTGCCTGA mutant NA NA NA NA NA 30 134 0.961648874956063 1 0.980824437478031 NA NA 0.975782958922834 0.983320981563312 NA NA -0.0141340839667715 0.0166790184366882 NA 0.979551970243073 NA 0.00127246723495833 NA FALSE NA 0 -0.417 . intron_variant&non_coding_transcript_variant MODIFIER BAIAP2L1 HGNC 21649 ENST00000462558 4/9 1 NA ATT T,G 2.471e-05 7:98320169 BAIAP2L1 HGNC Symbol protein_coding 109417 ENSG00000006453 ENSE00003577805 intron_variant -0.264653 0.18791 0.08679 0.163922 0.288651733634798 0.153832 0.042773725631072 FALSE 1.25515e-05 ENSE00000436145_000 ENSE00000436145 000 2 128522716 128522885 - 32 96 42 NA NA NA NA NA TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC 127765141 127765311 NA NA NA NA NA NA TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC natural 182 142 0.993056433940034 0.996354903197836 0.994705668568935 8006 12987 0.905663315835761 0.912449684972634 0.909056500404198 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 0 0 0 0 0.994705668568935 0.909056500404198 0 0 0 FALSE FALSE NA NA NA NA NA WDR33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR33 NA NA NA ENSG00000136709 ENSE00000436145 NA NA NA NA NA NA NA 0.999997732823828 TRUE NA ENSE00000436145_001 ENSE00000436145 001 2 128522716 128522885 - 32 96 42 C G 128522742 2641 144 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATCATAATCACCAGATGGTATCATCATCC 127765141 127765311 127765167 127765168 127765168 downstr_intron 6 1.19354838709677 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATCATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC mutant NA NA NA NA NA 1279 552 0.999880167695236 0.998530088573641 0.999205128134439 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 NA NA 0.0942168518594746 0.0860804036010071 0.994705668568935 0.909056500404198 NA 0.0901486277302408 NA FALSE NA 0.062 0.301 . downstream_gene_variant MODIFIER WDR33 HGNC 25651 ENST00000408998 1 NA TCA C,G 8.236e-06 2:127765168 WDR33 HGNC Symbol protein_coding 110165 ENSG00000136709 ENSE00000436145 splice_region_variant 0.685201 0.84291 0.12253 0.295142 0.650947623141319 0.211235 0.999997732823828 TRUE 4.08083e-06 ENSE00000436145_003 ENSE00000436145 003 2 128522716 128522885 - 32 96 42 G A 128522775 2643 111 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTTACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC 127765141 127765311 127765200 127765201 127765201 exon -28 0.71875 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTTACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC mutant NA NA NA NA NA 934 249 0.997724501464269 1 0.998862250732135 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 NA NA 0.0920611856285081 0.0875503150273657 0.994705668568935 0.909056500404198 NA 0.0898057503279369 NA FALSE NA 0.998 0.257 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:127765201 WDR33 HGNC Symbol protein_coding 110165 ENSG00000136709 ENSE00000436145 synonymous_variant 1.07543 0.96437 0.84016 0.706548 0.734352362617264 0 0.999997732823828 TRUE 4.06306e-06 ENSE00000436145_004 ENSE00000436145 004 2 128522716 128522885 - 32 96 42 G C 128522775 2644 111 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTGACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC 127765141 127765311 127765200 127765201 127765201 exon -28 0.71875 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTGACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC mutant NA NA NA NA NA 1161 867 0.996994761685262 0.996551760630791 0.996773261158027 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 NA NA 0.0913314458495007 0.0841020756581571 0.994705668568935 0.909056500404198 NA 0.0877167607538289 NA FALSE NA 0.998 0.257 NA NA NA WDR33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR33 NA NA NA ENSG00000136709 ENSE00000436145 synonymous_variant 0.736191 0.96488 0.83327 0.706548 0.757133265074489 0 0.999997732823828 TRUE 4.06306e-06 ENSE00000436145_006 ENSE00000436145 006 2 128522716 128522885 - 32 96 42 A G 128522805 2646 81 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCCAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC 127765141 127765311 127765230 127765231 127765231 exon 39 0.40625 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCCAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC mutant NA NA NA NA NA 2458 1574 0.998737490885975 0.998904495038712 0.998820992962344 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 NA NA 0.0930741750502136 0.0864548100660777 0.994705668568935 0.909056500404198 NA 0.0897644925581457 NA FALSE NA 1 3.417 . downstream_gene_variant MODIFIER WDR33 HGNC 25651 ENST00000408998 1 NA TAG A,G 3.295e-05 2:127765231 WDR33 HGNC Symbol protein_coding 110165 ENSG00000136709 ENSE00000436145 synonymous_variant 0.785066 0.97616 0.9067 0.706548 0.769862303634357 0 0.999997732823828 TRUE 2.03122e-05 ENSE00000436145_007 ENSE00000436145 007 2 128522716 128522885 - 32 96 42 G C 128522848 2647 38 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCGTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC 127765141 127765311 127765273 127765274 127765274 upstr_intron -5 -0.0952380952380952 TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCGTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC mutant NA NA NA NA NA 168 430 1 1 1 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 NA NA 0.0943366841642387 0.0875503150273657 0.994705668568935 0.909056500404198 NA 0.0909434995958022 NA FALSE NA 0.037 0.471 . downstream_gene_variant MODIFIER WDR33 HGNC 25651 ENST00000408998 rs375969377&rs564863896 1 -:0.0012 -:0 -:0 NA &-:0 -:0.006 &-:0 C:0&-:0.0002 C:0.0001&-:0.0015 AGG G,C 8.272e-06 2:127765274 WDR33 HGNC Symbol protein_coding 110165 ENSG00000136709 ENSE00000436145 splice_region_variant -0.136343 0.34582 0.53718 0.099367 0.448687564112289 0.0893479 0.999997732823828 TRUE 4.1134e-06 ENSE00000436145_008 ENSE00000436145 008 2 128522716 128522885 - 32 96 42 G A 128522864 2648 22 TGAAGTTGGAGGATGTATAACTTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC 127765141 127765311 127765289 127765290 127765290 upstr_intron -21 -0.476190476190476 TGAAGTTGGAGGATGTATAACTTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC mutant NA NA NA NA NA 778 150 0.98976337935809 1 0.994881689679045 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 NA NA 0.084100063522329 0.0875503150273657 0.994705668568935 0.909056500404198 NA 0.0858251892748473 NA FALSE NA 0 0.466 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:127765290 WDR33 HGNC Symbol protein_coding 110165 ENSG00000136709 ENSE00000436145 intron_variant 0.373722 0.20501 0.03484 0.062308 0.743884950204109 0.078079 0.999997732823828 TRUE 4.3448e-06 ENSE00000436145_009 ENSE00000436145 009 2 128522716 128522885 - 32 96 42 G C 128522864 2649 22 TGAAGTTGGAGGATGTATAACGTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC 127765141 127765311 127765289 127765290 127765290 upstr_intron -21 -0.476190476190476 TGAAGTTGGAGGATGTATAACGTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC mutant NA NA NA NA NA 1129 1422 0.999864243364835 1 0.999932121682418 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 NA NA 0.0942009275290742 0.0875503150273657 0.994705668568935 0.909056500404198 NA 0.0908756212782199 NA FALSE NA 0 0.466 NA NA NA WDR33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR33 NA NA NA ENSG00000136709 ENSE00000436145 intron_variant 0.031945 0.20889 0.03674 0.062308 0.714939088305798 0.078079 0.999997732823828 TRUE NA ENSE00000436145_011 ENSE00000436145 011 2 128522716 128522885 - 32 96 42 A G 128522872 2651 14 TGAAGTTGGAGGACGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC 127765141 127765311 127765297 127765298 127765298 upstr_intron -29 -0.666666666666667 TGAAGTTGGAGGACGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC TGAAGTTGGAGGATGTATAACCTGTCTTTTTTTCTCCCTTAGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGTGGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGTAATGATAATCACCAGATGGTATCATCATCC mutant NA NA NA NA NA 649 2001 1 0.999040730385748 0.999520365192874 0.993056433940034 0.996354903197836 0.905663315835761 0.912449684972634 NA NA 0.0943366841642387 0.0865910454131132 0.994705668568935 0.909056500404198 NA 0.090463864788676 NA FALSE NA 0.001 0.471 rs114363148 downstream_gene_variant MODIFIER WDR33 HGNC 25651 ENST00000408998 rs114363148 1 G:0.0072 G:0.0234 G:0.0058 NA G:0 G:0.001 G:0 G:0.0136 G:0 CAT A,G 0.001796 2:127765298 WDR33 HGNC Symbol protein_coding 110165 ENSG00000136709 ENSE00000436145 intron_variant 0.141265 0.19473 0.05851 0.062308 0.487677294570402 0.078079 0.999997732823828 TRUE 0.00159459 ENSE00000502777_000 ENSE00000502777 000 10 99155937 99156106 - 38 84 48 NA NA NA NA NA GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 NA NA NA NA NA NA GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG natural NA NA NA NA NA 340 822 0.831379203601595 0.974769345080628 0.903074274341112 NA NA 0.831379203601595 0.974769345080628 NA NA 0 0 NA 0.903074274341112 NA 0 NA FALSE NA NA NA NA NA NA RRP12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRP12 NA NA NA ENSG00000052749 ENSE00000502777 NA NA NA NA NA NA NA 4.36448365338862e-06 FALSE NA ENSE00000502777_001 ENSE00000502777 001 10 99155937 99156106 - 38 84 48 C A 99155953 2137 154 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGTTGGGTGTTCAGAGCAG 97396179 97396349 97396195 97396196 97396196 downstr_intron 22 1.59459459459459 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGTTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 31 303 0 0 0 NA NA 0.831379203601595 0.974769345080628 NA NA -0.831379203601595 -0.974769345080628 NA 0.903074274341112 NA -0.903074274341112 NA TRUE NA 0 -0.807 . intron_variant MODIFIER RRP12 HGNC 29100 ENST00000414986 3/31 rs199723427 1 A:0.0052 A:0 A:0 NA A:0 A:0 A:0.0266 A:0 A:0.0001 ACC C,A 0.002191 10:97396196 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 intron_variant 0.482582 0.1817 0.05995 0.160075 0.729112886893949 0.0499422 4.36448365338862e-06 FALSE 0.00198326 ENSE00000502777_006 ENSE00000502777 006 10 99155937 99156106 - 38 84 48 G A 99155984 2142 123 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTTGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396226 97396227 97396227 exon -10 0.892857142857143 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTTGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 158 143 1 0.998658140733965 0.999329070366983 NA NA 0.831379203601595 0.974769345080628 NA NA 0.168620796398405 0.0238887956533368 NA 0.903074274341112 NA 0.0962547960258711 NA FALSE NA 1 2.328 rs3814553 synonymous_variant LOW RRP12 HGNC 29100 ENST00000414986 3/32 rs3814553&COSM3752071 1 A:0.4042 A:0.5507 A:0.3429 NA A:0.3125 A:0.337 A:0.4131 A:0.4934 A:0.3188 CGA G,A 0.339 10:97396227 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 synonymous_variant 1.683768 0.9442 0.14114 0.732398 0.8675509942308 0 4.36448365338862e-06 FALSE 0.337762 ENSE00000502777_007 ENSE00000502777 007 10 99155937 99156106 - 38 84 48 G A 99156000 2143 107 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGATGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396242 97396243 97396243 exon -26 0.702380952380952 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGATGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 185 10 0.999777337044055 1 0.999888668522027 NA NA 0.831379203601595 0.974769345080628 NA NA 0.16839813344246 0.0252306549193716 NA 0.903074274341112 NA 0.0968143941809158 NA FALSE NA 1 3.482 . missense_variant MODERATE RRP12 HGNC 29100 ENST00000414986 3/32 rs559101512 1 deleterious(0) probably_damaging(0.961) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 0.0001071 10:97396243 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 missense_variant 6.43259 0.98568 0.96292 0.732398 0.999015980195923 0 4.36448365338862e-06 FALSE 7.30929e-05 ENSE00000502777_008 ENSE00000502777 008 10 99155937 99156106 - 38 84 48 T A 99156003 2144 104 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGTGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396245 97396246 97396246 exon -29 0.666666666666667 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGTGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 63 181 1 1 1 NA NA 0.831379203601595 0.974769345080628 NA NA 0.168620796398405 0.0252306549193716 NA 0.903074274341112 NA 0.0969257256588885 NA FALSE NA 1 7.64 . missense_variant MODERATE RRP12 HGNC 29100 ENST00000414986 3/32 1 deleterious(0.04) probably_damaging(0.98) NA CTC T,A 8.236e-06 10:97396246 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 missense_variant 6.557493 0.98909 0.99067 0.719381 0.992635127681349 0 4.36448365338862e-06 FALSE 4.06075e-06 ENSE00000502777_009 ENSE00000502777 009 10 99155937 99156106 - 38 84 48 C T 99156005 2145 102 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAAGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396247 97396248 97396248 exon -31 0.642857142857143 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAAGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 55 423 0.997733402339765 1 0.998866701169883 NA NA 0.831379203601595 0.974769345080628 NA NA 0.16635419873817 0.0252306549193716 NA 0.903074274341112 NA 0.095792426828771 NA FALSE NA 0.997 0.511 . synonymous_variant LOW RRP12 HGNC 29100 ENST00000414986 3/32 1 NA CCT C,T 8.236e-06 10:97396248 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 synonymous_variant 1.974449 0.95953 0.79121 0.719381 0.848887208779698 0 4.36448365338862e-06 FALSE 4.06078e-06 ENSE00000502777_010 ENSE00000502777 010 10 99155937 99156106 - 38 84 48 T C 99156025 2146 82 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGGTTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396267 97396268 97396268 exon 34 0.404761904761905 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGGTTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 50 201 1 0.99545803749546 0.99772901874773 NA NA 0.831379203601595 0.974769345080628 NA NA 0.168620796398405 0.0206886924148318 NA 0.903074274341112 NA 0.0946547444066186 NA FALSE NA 1 7.64 rs142061463 missense_variant MODERATE RRP12 HGNC 29100 ENST00000414986 3/32 rs142061463 1 tolerated(0.42) probably_damaging(0.994) NA C:0 C:0.0001 ATC T,C 8.236e-06 10:97396268 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 missense_variant 5.437283 0.98883 0.98934 0.719381 0.998483595726994 0 4.36448365338862e-06 FALSE 4.06062e-06 ENSE00000502777_013 ENSE00000502777 013 10 99155937 99156106 - 38 84 48 C A 99156043 2149 64 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGTCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396285 97396286 97396286 exon 16 0.19047619047619 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGTCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 21 137 1 1 1 NA NA 0.831379203601595 0.974769345080628 NA NA 0.168620796398405 0.0252306549193716 NA 0.903074274341112 NA 0.0969257256588885 NA FALSE NA 1 7.408 . missense_variant MODERATE RRP12 HGNC 29100 ENST00000414986 3/32 rs538262704 1 tolerated(0.15) probably_damaging(0.998) A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 GCC C,A 0.0001318 10:97396286 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 missense_variant 5.176427 0.99199 0.99658 0.719381 0.996415919325012 0 4.36448365338862e-06 FALSE 0.00012994 ENSE00000502777_015 ENSE00000502777 015 10 99155937 99156106 - 38 84 48 G C 99156056 2151 51 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATGTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396298 97396299 97396299 exon 3 0.0357142857142857 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATGTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 228 104 1 0.997773744533151 0.998886872266576 NA NA 0.831379203601595 0.974769345080628 NA NA 0.168620796398405 0.0230043994525228 NA 0.903074274341112 NA 0.095812597925464 NA FALSE NA 1 4.425 . missense_variant&splice_region_variant MODERATE RRP12 HGNC 29100 ENST00000414986 3/32 rs562197338 1 tolerated(0.32) benign(0.077) NA AGA G,C 8.236e-06 10:97396299 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 missense_variant -0.549535 0.96982 0.98617 0.719381 0.854909209754034 0 4.36448365338862e-06 FALSE 4.06091e-06 ENSE00000502777_016 ENSE00000502777 016 10 99155937 99156106 - 38 84 48 C T 99156064 2152 43 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTATGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396306 97396307 97396307 upstr_intron -6 -0.104166666666667 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTATGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 25 83 1 1 1 NA NA 0.831379203601595 0.974769345080628 NA NA 0.168620796398405 0.0252306549193716 NA 0.903074274341112 NA 0.0969257256588885 NA FALSE NA 0 -4.073 . splice_region_variant&intron_variant LOW RRP12 HGNC 29100 ENST00000414986 2/31 rs367886697 1 NA T:0.0002 T:0 ACA C,T 8.236e-06 10:97396307 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 splice_region_variant 0.228227 0.18108 0.04278 0.091178 0.632049270247582 0.066604 4.36448365338862e-06 FALSE 2.03054e-05 ENSE00000502777_017 ENSE00000502777 017 10 99155937 99156106 - 38 84 48 G A 99156067 2153 40 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTTCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396309 97396310 97396310 upstr_intron -9 -0.166666666666667 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTTCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 196 385 0.984800848093595 1 0.992400424046798 NA NA 0.831379203601595 0.974769345080628 NA NA 0.153421644492 0.0252306549193716 NA 0.903074274341112 NA 0.089326149705686 NA FALSE NA 0 0.281 . intron_variant MODIFIER RRP12 HGNC 29100 ENST00000414986 2/31 rs371661504 1 NA A:0 A:0.0001 GGA G,A 3.295e-05 10:97396310 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 intron_variant 0.277019 0.19562 0.11025 0.091178 0.620415184683689 0.0581046 4.36448365338862e-06 FALSE 2.43692e-05 ENSE00000502777_018 ENSE00000502777 018 10 99155937 99156106 - 38 84 48 G A 99156069 2154 38 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCTTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396311 97396312 97396312 upstr_intron -11 -0.208333333333333 GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCTTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 122 925 1 0.998290034374201 0.999145017187101 NA NA 0.831379203601595 0.974769345080628 NA NA 0.168620796398405 0.0235206892935726 NA 0.903074274341112 NA 0.096070742845989 NA FALSE NA 0 -1.464 . intron_variant MODIFIER RRP12 HGNC 29100 ENST00000414986 2/31 1 NA AGG G,A 8.236e-06 10:97396312 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 intron_variant 0.066449 0.15666 0.03268 0.091178 0.455476765817342 0.0581046 4.36448365338862e-06 FALSE NA ENSE00000502777_022 ENSE00000502777 022 10 99155937 99156106 - 38 84 48 T G 99156090 2158 17 GTGGGGTTAGGTCTAACATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396332 97396333 97396333 upstr_intron -32 -0.645833333333333 GTGGGGTTAGGTCTAACATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 20 98 1 0.980125280832832 0.990062640416416 NA NA 0.831379203601595 0.974769345080628 NA NA 0.168620796398405 0.00535593575220383 NA 0.903074274341112 NA 0.0869883660753046 NA FALSE NA 0 -0.251 . intron_variant MODIFIER RRP12 HGNC 29100 ENST00000414986 2/31 1 NA TTT T,G 8.237e-06 10:97396333 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 intron_variant -0.04742 0.15452 0.03587 0.099367 0.454456001653801 0.0581046 4.36448365338862e-06 FALSE 4.07103e-06 ENSE00000502777_024 ENSE00000502777 024 10 99155937 99156106 - 38 84 48 C A 99156096 2160 11 GTGGGGTTAGTTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG 97396179 97396349 97396338 97396339 97396339 upstr_intron -38 -0.770833333333333 GTGGGGTTAGTTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG GTGGGGTTAGGTCTAAAATAGTCACAGTGCTTTCTCCCTCCTGTGCAGATCTGTGCTGTTCTGGCTGCTGTCACTGAGGTGATTCGCTCCCAGGGAGGGAAGGAGACGGAGACTGAGTACTTCGCTGCTCTGGTGAGTGGGTGCCACTGGAGGGTGGGTGTTCAGAGCAG mutant NA NA NA NA NA 31 46 0.957915515307344 1 0.978957757653672 NA NA 0.831379203601595 0.974769345080628 NA NA 0.126536311705749 0.0252306549193716 NA 0.903074274341112 NA 0.0758834833125605 NA FALSE NA 0 -1.723 NA NA NA RRP12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:97396339 RRP12 HGNC Symbol protein_coding 69718 ENSG00000052749 ENSE00000502777 intron_variant 0.190796 0.10451 0.0399 0.099367 0.434605788687651 0.0581046 4.36448365338862e-06 FALSE 4.08734e-06 ENSE00000521581_000 ENSE00000521581 000 1 115123887 115124056 - 33 93 44 NA NA NA NA NA TTACAATTTGCCACTTCTACCCTGGTCCCTATTCTCTTTCTTAGGCTGCAGCGCTGGTGGAGGAGGAAACTCGCAGATACCGACCTACTAAGAACTACCTGAGCTACCTGACAGCCCCGGATTATTCTGCCTTTGAAGTAAGTATGTCTTGAGCCTAGGTGTGAACGAGA 114581265 114581435 NA NA NA NA NA NA TTACAATTTGCCACTTCTACCCTGGTCCCTATTCTCTTTCTTAGGCTGCAGCGCTGGTGGAGGAGGAAACTCGCAGATACCGACCTACTAAGAACTACCTGAGCTACCTGACAGCCCCGGATTATTCTGCCTTTGAAGTAAGTATGTCTTGAGCCTAGGTGTGAACGAGA TTACAATTTGCCACTTCTACCCTGGTCCCTATTCTCTTTCTTAGGCTGCAGCGCTGGTGGAGGAGGAAACTCGCAGATACCGACCTACTAAGAACTACCTGAGCTACCTGACAGCCCCGGATTATTCTGCCTTTGAAGTAAGTATGTCTTGAGCCTAGGTGTGAACGAGA natural NA NA NA NA NA 1193 1819 0.996782503375816 0.975146175786434 0.985964339581125 NA NA 0.996782503375816 0.975146175786434 NA NA 0 0 NA 0.985964339581125 NA 0 NA FALSE NA NA NA NA NA NA BCAS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCAS2 NA NA NA ENSG00000116752 ENSE00003489595 NA NA NA NA NA NA NA 6.52504489211884e-05 FALSE NA ENSE00000521581_003 ENSE00000521581 003 1 115123887 115124056 - 33 93 44 T G 115123917 3146 140 TTACAATTTGCCACTTCTACCCTGGTCCCTATTCTCTTTCTTAGGCTGCAGCGCTGGTGGAGGAGGAAACTCGCAGATACCGACCTACTAAGAACTACCTGAGCTACCTGACAGCCCCGGATTATTCTGCCTTTGAAGTCAGTATGTCTTGAGCCTAGGTGTGAACGAGA 114581265 114581435 114581295 114581296 114581296 downstr_intron 3 1.09375 TTACAATTTGCCACTTCTACCCTGGTCCCTATTCTCTTTCTTAGGCTGCAGCGCTGGTGGAGGAGGAAACTCGCAGATACCGACCTACTAAGAACTACCTGAGCTACCTGACAGCCCCGGATTATTCTGCCTTTGAAGTCAGTATGTCTTGAGCCTAGGTGTGAACGAGA TTACAATTTGCCACTTCTACCCTGGTCCCTATTCTCTTTCTTAGGCTGCAGCGCTGGTGGAGGAGGAAACTCGCAGATACCGACCTACTAAGAACTACCTGAGCTACCTGACAGCCCCGGATTATTCTGCCTTTGAAGTAAGTATGTCTTGAGCCTAGGTGTGAACGAGA mutant NA NA NA NA NA 17 396 0.95 0.995015455223069 0.972507727611535 NA NA 0.996782503375816 0.975146175786434 NA NA -0.0467825033758159 0.0198692794366355 NA 0.985964339581125 NA -0.0134566119695902 NA FALSE NA 1 0.894 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW BCAS2 HGNC 975 ENST00000485021 2/5 1 NA TTA T,G 8.237e-06 1:114581296 BCAS2 HGNC Symbol protein_coding 14082 ENSG00000116752 ENSE00003489595 splice_region_variant 2.386864 0.96001 0.82283 0.08998 0.938111891297351 0.904553 6.52504489211884e-05 FALSE 4.06663e-06 ENSE00000522305_000 ENSE00000522305 000 1 201027498 201027667 - 38 84 48 NA NA NA NA NA TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGGGCTACTTTGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC 201058369 201058539 NA NA NA NA NA NA TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGGGCTACTTTGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGGGCTACTTTGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC natural NA NA NA NA NA 43 299 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA CACNA1S NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA1S NA NA NA ENSG00000081248 ENSE00000522305 NA NA NA NA NA NA NA 9.55874082626219e-08 FALSE NA ENSE00000522305_012 ENSE00000522305 012 1 201027498 201027667 - 38 84 48 A G 201027611 4516 57 TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGGGCTACTTCGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC 201058369 201058539 201058482 201058483 201058483 exon 9 0.107142857142857 TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGGGCTACTTCGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGGGCTACTTTGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC mutant NA NA NA NA NA 55 16 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.688 0.031 . synonymous_variant LOW CACNA1S HGNC 1397 ENST00000367338 28/43 rs202108840 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAA A,G 8.236e-06 1:201058483 CACNA1S HGNC Symbol protein_coding 73054 ENSG00000081248 ENSE00000522305 synonymous_variant 0.430779 0.96738 0.64178 0.497415 0.665857638915031 0 9.55874082626219e-08 FALSE NA ENSE00000522305_016 ENSE00000522305 016 1 201027498 201027667 - 38 84 48 C G 201027619 4520 49 TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGCGCTACTTTGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC 201058369 201058539 201058490 201058491 201058491 exon 1 0.0119047619047619 TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGCGCTACTTTGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC TTCCTCCCAAAGCTCACCCCCTCGCTTTCCCATCCTTTTCCTTCCCAGGGCTACTTTGGAGACCCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGTGAGATCGACGTGAGTATCAGGCAGGCAGAGCCATCACTAGGGTGGGC mutant NA NA NA NA NA 78 16 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 5.87 . missense_variant&splice_region_variant MODERATE CACNA1S HGNC 1397 ENST00000367338 28/43 1 deleterious(0) probably_damaging(0.948) NA CCC C,G 8.236e-06 1:201058491 CACNA1S HGNC Symbol protein_coding 73054 ENSG00000081248 ENSE00000522305 missense_variant 6.331549 0.98989 0.95348 0.497415 0.998033350676568 0 9.55874082626219e-08 FALSE 4.06138e-06 ENSE00000525807_000 ENSE00000525807 000 3 137947716 137947885 + 44 93 33 NA NA NA NA NA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 NA NA NA NA NA NA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA natural 358 403 0.842306459036078 0.841746925465503 0.84202669225079 9042 8157 0.78474071026771 0.738808135859033 0.761774423063371 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 0 0 0 0 0.84202669225079 0.761774423063371 0 0 0 FALSE FALSE NA NA NA NA NA ARMC8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARMC8 NA NA NA ENSG00000114098 ENSE00000525807 NA NA NA NA NA NA NA 0.999883770038606 TRUE NA ENSE00000525807_001 ENSE00000525807 001 3 137947716 137947885 + 44 93 33 T C 137947731 3212 16 CTCATGGTGCCTGAGCTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228888 138228889 138228889 upstr_intron -29 -0.636363636363636 CTCATGGTGCCTGAGCTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 1044 4662 0.810129884139044 0.878552256061422 0.844341070100233 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA 0.0253891738713341 0.139744120202389 0.84202669225079 0.761774423063371 NA 0.0825666470368617 NA FALSE NA 0.954 2.143 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA GTT T,C 8.238e-06 3:138228889 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 intron_variant 2.348386 0.92746 0.32533 0.156188 0.849942022107535 0.675052 0.999883770038606 TRUE 8.25014e-06 ENSE00000525807_003 ENSE00000525807 003 3 137947716 137947885 + 44 93 33 C T 137947751 3214 36 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCTTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228908 138228909 138228909 upstr_intron -9 -0.181818181818182 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCTTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 1112 1836 0.922048439004404 0.94933346489825 0.935690951951327 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA 0.137307728736694 0.210525329039217 0.84202669225079 0.761774423063371 NA 0.173916528887956 NA FALSE NA 0.024 -0.148 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA CCT C,T 8.237e-06 3:138228909 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 intron_variant 0.182497 0.22903 0.07025 0.156188 0.656521830957288 0.211208 0.999883770038606 TRUE 4.07754e-06 ENSE00000525807_004 ENSE00000525807 004 3 137947716 137947885 + 44 93 33 C T 137947754 3215 39 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTTCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228911 138228912 138228912 upstr_intron -6 -0.113636363636364 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTTCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 2585 225 0.804144508909926 0.8 0.802072254454963 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA 0.0194037986422164 0.0611918641409674 0.84202669225079 0.761774423063371 NA 0.0402978313915919 NA FALSE NA 0 -0.632 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA TCC C,T 8.237e-06 3:138228912 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 splice_region_variant 0.419079 0.18816 0.08594 0.156188 0.427204559413543 0.226031 0.999883770038606 TRUE 4.07608e-06 ENSE00000525807_005 ENSE00000525807 005 3 137947716 137947885 + 44 93 33 A G 137947761 3216 46 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGGTGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228918 138228919 138228919 exon 2 0.021505376344086 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGGTGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 1666 319 0.0138869497272709 0.00302364203768491 0.00845529588247789 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA -0.770853760540439 -0.735784493821348 0.84202669225079 0.761774423063371 NA -0.753319127180893 NA TRUE NA 1 9.262 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA GAT A,G 8.236e-06 3:138228919 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 missense_variant 6.106666 0.99347 0.995 0.706548 0.998468631959738 0 0.999883770038606 TRUE 4.06911e-06 ENSE00000525807_006 ENSE00000525807 006 3 137947716 137947885 + 44 93 33 T C 137947762 3217 47 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGACGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228919 138228920 138228920 exon 3 0.032258064516129 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGACGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 20 600 0.854969098122835 0.869035558574066 0.86200232834845 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA 0.0702283878551252 0.130227422715033 0.84202669225079 0.761774423063371 NA 0.100227905285079 NA FALSE NA 1 0.991 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA ATG T,C 8.236e-06 3:138228920 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 splice_region_variant 1.113146 0.97433 0.89637 0.706548 0.844266617920002 0 0.999883770038606 TRUE 4.06934e-06 ENSE00000525807_009 ENSE00000525807 009 3 137947716 137947885 + 44 93 33 C A 137947775 3220 60 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATAACACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228932 138228933 138228933 exon 16 0.172043010752688 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATAACACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 276 1017 0.241335374387691 0.179825292935966 0.210580333661828 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA -0.543405335880019 -0.558982842923066 0.84202669225079 0.761774423063371 NA -0.551194089401543 NA TRUE NA 1 6.039 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 COSM309280&COSM309281 1 NA ACC C,A 8.236e-06 3:138228933 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 missense_variant 3.202199 0.99479 0.9885 0.706548 0.99228974542151 0 0.999883770038606 TRUE 4.0665e-06 ENSE00000525807_010 ENSE00000525807 010 3 137947716 137947885 + 44 93 33 C T 137947780 3221 65 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACATCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228937 138228938 138228938 exon 21 0.225806451612903 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACATCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 963 7084 0.791360536876845 0.726101533502531 0.758731035189688 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA 0.00661982660913563 -0.0127066023565016 0.84202669225079 0.761774423063371 NA -0.00304338787368297 NA FALSE NA 0.987 0.321 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA ACC C,T 8.236e-06 3:138228938 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 synonymous_variant 1.36719 0.96138 0.75269 0.706548 0.403485678615582 0 0.999883770038606 TRUE 4.06537e-06 ENSE00000525807_012 ENSE00000525807 012 3 137947716 137947885 + 44 93 33 G A 137947800 3223 85 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAAGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228957 138228958 138228958 exon 41 0.440860215053763 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAAGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 1321 296 0.732839119279723 0.800853702758935 0.766846411019329 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA -0.0519015909879865 0.0620455668999019 0.84202669225079 0.761774423063371 NA 0.0050719879559577 NA FALSE NA 1 3.907 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA AGG G,A 2.471e-05 3:138228958 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 missense_variant 1.637946 0.97696 0.92909 0.706548 0.955851330565353 0 0.999883770038606 TRUE 1.21922e-05 ENSE00000525807_014 ENSE00000525807 014 3 137947716 137947885 + 44 93 33 G A 137947806 3225 91 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCACTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228963 138228964 138228964 exon -47 0.505376344086022 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCACTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 1679 403 0.00202156287793967 0.00526618804177695 0.00364387545985831 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA -0.78271914738977 -0.733541947817256 0.84202669225079 0.761774423063371 NA -0.758130547603513 NA TRUE NA 1 2.88 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 rs200413853 1 A:0.0000 A:0 A:0 NA A:0 A:0 A:0 CGC G,A 1.647e-05 3:138228964 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 missense_variant 3.221637 0.97664 0.8817 0.732398 0.954945467978593 0 0.999883770038606 TRUE NA ENSE00000525807_015 ENSE00000525807 015 3 137947716 137947885 + 44 93 33 A G 137947809 3226 94 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTGTACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138228966 138228967 138228967 exon -44 0.537634408602151 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTGTACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 2426 106 0.806951774961578 0.860497594455208 0.833724684708393 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA 0.0222110646938686 0.121689458596175 0.84202669225079 0.761774423063371 NA 0.0719502616450218 NA FALSE NA 1 5.086 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA TAT A,G 8.236e-06 3:138228967 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 missense_variant 2.38748 0.97548 0.88856 0.732398 0.974895454608398 0 0.999883770038606 TRUE 4.06372e-06 ENSE00000525807_016 ENSE00000525807 016 3 137947716 137947885 + 44 93 33 C T 137947860 3227 145 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAATCAGAATAAATGTTATCTATAATGTA 138228873 138229043 138229017 138229018 138229018 downstr_intron 8 1.25 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAATCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 1499 1269 0.737679734271209 0.732247467963038 0.734963601117124 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA -0.0470609759965004 -0.00656066789599463 0.84202669225079 0.761774423063371 NA -0.0268108219462475 NA FALSE NA 0.638 0.394 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 rs367774695 1 NA ACC C,T 8.237e-06 3:138229018 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 splice_region_variant 0.706618 0.76297 0.31874 0.106106 0.392428742847921 0.342216 0.999883770038606 TRUE 4.0864e-06 ENSE00000525807_017 ENSE00000525807 017 3 137947716 137947885 + 44 93 33 T C 137947875 3228 160 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTACCTATAATGTA 138228873 138229043 138229032 138229033 138229033 downstr_intron 23 1.71875 CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTACCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA mutant NA NA NA NA NA 878 119 0.787957196135037 0.8 0.793978598067518 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA 0.00321648586732703 0.0611918641409674 0.84202669225079 0.761774423063371 NA 0.0322041750041472 NA FALSE NA 0.229 0.302 . intron_variant MODIFIER ARMC8 HGNC 24999 ENST00000538260 5/20 1 NA ATC T,C 1.648e-05 3:138229033 ARMC8 HGNC Symbol protein_coding 111141 ENSG00000114098 ENSE00000525807 non_coding_transcript_exon_variant 0.330293 0.17672 0.35982 0.106106 0.724256727109056 0.156508 0.999883770038606 TRUE 1.67529e-05 ENSE00000525807_BRK ENSE00000525807 BRK 3 137947716 137947885 + 44 93 33 A,G; T,T NA NA NA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTTTGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAACCAAGAACCAGAATAAATGTTATCTATAATGTA 138228873 138229043 NA NA NA NA NA NA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTTTGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAACCAAGAACCAGAATAAATGTTATCTATAATGTA CTCATGGTGCCTGAGTTTCTTGTTGCTGTGTTCTCCTTCCCTAGGATGCCACAGTGATACCACACCTCATGGCACTGCTTAGCAGGTCCCGCTATACCCAGGAGTACATCTGTCAGATCTTCTCACACTGCTGTAAAGTAAGAACCAGAATAAATGTTATCTATAATGTA control NA NA NA NA NA 3860 512 0.0109443076699928 0.00423215096682168 0.00758822931840726 0.842306459036078 0.841746925465503 0.78474071026771 0.738808135859033 NA NA -0.773796402597717 -0.734575984892211 0.84202669225079 0.761774423063371 NA -0.754186193744964 NA TRUE NA NA NA NA NA NA ARMC8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARMC8 NA NA NA ENSG00000114098 ENSE00000525807 NA NA NA NA NA NA NA 0.999883770038606 TRUE NA ENSE00000532987_000 ENSE00000532987 000 8 41561529 41561698 - 30 99 41 NA NA NA NA NA TTCTAAACTCAGGAGAGAGAGTGTACTCACCGAGCTGACCTCGTTTGGGGAAGCACCGTTTTTCAGAAGCAGAGTCACGATGTCTGTGTGTCCCTGCTGGGCTGCCTGGTGCAGGGGGCTGTATCCTAGCTGCAAAGTGAGCAGACATTTAGGCAGGGTTAGCCAGCCAC 41704010 41704180 NA NA NA NA NA NA GTGGCTGGCTAACCCTGCCTAAATGTCTGCTCACTTTGCAGCTAGGATACAGCCCCCTGCACCAGGCAGCCCAGCAGGGACACACAGACATCGTGACTCTGCTTCTGAAAAACGGTGCTTCCCCAAACGAGGTCAGCTCGGTGAGTACACTCTCTCTCCTGAGTTTAGAA GTGGCTGGCTAACCCTGCCTAAATGTCTGCTCACTTTGCAGCTAGGATACAGCCCCCTGCACCAGGCAGCCCAGCAGGGACACACAGACATCGTGACTCTGCTTCTGAAAAACGGTGCTTCCCCAAACGAGGTCAGCTCGGTGAGTACACTCTCTCTCCTGAGTTTAGAA natural NA NA NA NA NA 455 434 0.995592340991861 1 0.99779617049593 NA NA 0.995592340991861 1 NA NA 0 0 NA 0.99779617049593 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00000532987 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00000535552_000 ENSE00000535552 000 17 3635632 3635801 - 30 99 41 NA NA NA NA NA TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 NA NA NA NA NA NA TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT natural 152 217 0.890718916780326 0.845528336190848 0.868123626485587 1036 930 0.832416794443557 0.913095472275481 0.872756133359519 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 0 0 0 0 0.868123626485587 0.872756133359519 0 0 0 FALSE FALSE NA NA NA NA NA ITGAE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGAE NA NA NA ENSG00000083457 ENSE00003467493 NA NA NA NA NA NA NA 7.98813572559606e-13 FALSE NA ENSE00000535552_001 ENSE00000535552 001 17 3635632 3635801 - 30 99 41 A G 3635645 372 157 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACCGATTCGCTCTTCT 3732337 3732507 3732350 3732351 3732351 downstr_intron 17 1.58620689655172 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACCGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant 167 181 0.85 0.85 0.85 NA NA NA NA NA 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 -0.040718916780326 0.00447166380915165 NA NA 0.868123626485587 0.872756133359519 -0.0181236264855872 NA NA NA FALSE 0 0.489 rs170209 upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 rs170209 1 G:0.4579 G:0.2663 G:0.4597 NA G:0.5427 G:0.5944 G:0.4877 G:0.3227 G:0.5701 CAG A,G 0.539 17:3732351 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 intron_variant -0.166499 0.29638 0.07365 0.158681 0.461567482405194 0.104965 7.98813572559606e-13 FALSE 0.544883 ENSE00000535552_002 ENSE00000535552 002 17 3635632 3635801 - 30 99 41 C T 3635653 373 149 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGATTTGGACTGATTCGCTCTTCT 3732337 3732507 3732358 3732359 3732359 downstr_intron 9 1.31034482758621 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGATTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 173 398 0.999113035358818 1 0.999556517679409 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.166696240915261 0.0869045277245193 0.868123626485587 0.872756133359519 NA 0.12680038431989 NA FALSE NA 0 -0.181 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 rs200384542 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACC C,T 2.471e-05 17:3732359 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 intron_variant 0.399596 0.25539 0.03844 0.119485 0.84004901554762 0.169909 7.98813572559606e-13 FALSE 3.25026e-05 ENSE00000535552_003 ENSE00000535552 003 17 3635632 3635801 - 30 99 41 C T 3635654 374 148 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCAGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732359 3732360 3732360 downstr_intron 8 1.27586206896552 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCAGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant 47 85 0.85 0.85 0.85 NA NA NA NA NA 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 -0.040718916780326 0.00447166380915165 NA NA 0.868123626485587 0.872756133359519 -0.0181236264855872 NA NA NA FALSE 0.069 1.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:3732360 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 splice_region_variant 0.378471 0.34686 0.0764 0.119485 0.824757109476694 0.200121 7.98813572559606e-13 FALSE 1.2189e-05 ENSE00000535552_004 ENSE00000535552 004 17 3635632 3635801 - 30 99 41 C A 3635654 375 148 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCTGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732359 3732360 3732360 downstr_intron 8 1.27586206896552 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCTGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 45 433 1 0.998902670767583 0.999451335383791 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.167583205556443 0.0858071984921018 0.868123626485587 0.872756133359519 NA 0.126695202024272 NA FALSE NA 0.069 1.098 NA NA NA ITGAE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGAE NA NA NA ENSG00000083457 ENSE00003467493 splice_region_variant 0.575938 0.15575 0.0092 0.119485 0.751177362446461 0.200121 7.98813572559606e-13 FALSE 8.12599e-06 ENSE00000535552_005 ENSE00000535552 005 17 3635632 3635801 - 30 99 41 G A 3635655 376 147 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTTGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732360 3732361 3732361 downstr_intron 7 1.24137931034483 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTTGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 1085 264 0.999047886817372 1 0.999523943408686 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.166631092373814 0.0869045277245193 0.868123626485587 0.872756133359519 NA 0.126767810049167 NA FALSE NA 0.352 0.271 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 1 NA CGA G,A 8.236e-06 17:3732361 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 splice_region_variant 0.110854 0.34811 0.04743 0.119485 0.837503860365207 0.212503 7.98813572559606e-13 FALSE 8.12499e-06 ENSE00000535552_006 ENSE00000535552 006 17 3635632 3635801 - 30 99 41 C T 3635659 377 143 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTAAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732364 3732365 3732365 downstr_intron 3 1.10344827586207 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTAAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 294 773 0.94591887027943 0.982822023888922 0.964370447084176 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.113502075835873 0.0697265516134409 0.868123626485587 0.872756133359519 NA 0.0916143137246567 NA FALSE NA 1 0.7 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 COSM50920 1 NA TCA C,T 1.647e-05 17:3732365 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 splice_region_variant 1.193532 0.91674 0.46678 0.119485 0.804504755805357 0.429192 7.98813572559606e-13 FALSE 1.62479e-05 ENSE00000535552_009 ENSE00000535552 009 17 3635632 3635801 - 30 99 41 G A 3635682 380 120 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACTCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732387 3732388 3732388 exon -21 0.797979797979798 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACTCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 220 704 0.934915045824838 0.948372348310682 0.94164369706776 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.102498251381281 0.0352768760352009 0.868123626485587 0.872756133359519 NA 0.0688875637082407 NA FALSE NA 1 1.737 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 1 NA GGG G,A 2.471e-05 17:3732388 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant 4.148276 0.93892 0.53121 0.55562 0.99923195346871 0 7.98813572559606e-13 FALSE 1.21835e-05 ENSE00000535552_010 ENSE00000535552 010 17 3635632 3635801 - 30 99 41 G T 3635683 381 119 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCAACCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732388 3732389 3732389 exon -22 0.787878787878788 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCAACCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant 20 32 0.85 0.85 0.85 1485 32 0.749534295959313 0.8 0.774767147979657 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 -0.040718916780326 0.00447166380915165 -0.0828824984842444 -0.113095472275481 0.868123626485587 0.872756133359519 -0.0181236264855872 -0.0979889853798626 0.0798653588942754 FALSE FALSE 1 0.537 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 1 NA GGT G,T 4.118e-05 17:3732389 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant 3.460037 0.9398 0.54623 0.55562 0.970698581448157 0 7.98813572559606e-13 FALSE 4.06101e-05 ENSE00000535552_011 ENSE00000535552 011 17 3635632 3635801 - 30 99 41 C T 3635693 382 109 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAAGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732398 3732399 3732399 exon -32 0.686868686868687 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAAGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 310 174 1 0.998177783185233 0.999088891592617 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.167583205556443 0.0850823109097525 0.868123626485587 0.872756133359519 NA 0.126332758233098 NA FALSE NA 0.844 -0.368 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 rs373388810 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 CCT C,T 1.647e-05 17:3732399 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant -0.316604 0.78814 0.05417 0.55562 0.868145962004038 0 7.98813572559606e-13 FALSE 3.24873e-05 ENSE00000535552_012 ENSE00000535552 012 17 3635632 3635801 - 30 99 41 A G 3635702 383 100 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCACGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732407 3732408 3732408 exon -41 0.595959595959596 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCACGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 418 354 0.844993386233144 0.97887484428384 0.911934115258492 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.0125765917895869 0.0657793720083591 0.868123626485587 0.872756133359519 NA 0.039177981898973 NA FALSE NA 0.85 2.247 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 rs553168352 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAT A,G 2.471e-05 17:3732408 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant 3.044377 0.96352 0.58055 0.55562 0.839276413211012 0 7.98813572559606e-13 FALSE 1.62437e-05 ENSE00000535552_013 ENSE00000535552 013 17 3635632 3635801 - 30 99 41 T C 3635703 384 99 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCGTGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732408 3732409 3732409 exon -42 0.585858585858586 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCGTGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 504 44 0.987292549458632 1 0.993646274729316 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.154875755015074 0.0869045277245193 0.868123626485587 0.872756133359519 NA 0.120890141369797 NA FALSE NA 0.86 0.739 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 1 NA ATG T,C 8.236e-06 17:3732409 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant 0.282473 0.9323 0.41297 0.55562 0.524427713665928 0 7.98813572559606e-13 FALSE 2.84269e-05 ENSE00000535552_014 ENSE00000535552 014 17 3635632 3635801 - 30 99 41 C T 3635722 385 80 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCAGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732427 3732428 3732428 exon 39 0.393939393939394 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCAGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant 10 10 0.85 0.85 0.85 NA NA NA NA NA 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 -0.040718916780326 0.00447166380915165 NA NA 0.868123626485587 0.872756133359519 -0.0181236264855872 NA NA NA FALSE 0 -0.971 rs117707896 upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 rs117707896 1 T:0.0004 T:0.0008 T:0 NA T:0.001 T:0 T:0 T:0.0007 T:0 CCG C,T 4.118e-05 17:3732428 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 synonymous_variant 1.184866 0.16415 0.00569 0.55562 0.850110673544596 0 7.98813572559606e-13 FALSE 4.87318e-05 ENSE00000535552_015 ENSE00000535552 015 17 3635632 3635801 - 30 99 41 G A 3635723 386 79 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCTGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732428 3732429 3732429 exon 38 0.383838383838384 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCTGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 245 451 0.845358129045448 0.878849646673408 0.862103887859428 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.0129413346018902 -0.0342458256020728 0.868123626485587 0.872756133359519 NA -0.0106522455000913 NA FALSE NA 0.976 1.845 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 rs202017551 1 NA A:0.0005 A:0 CGG G,A 0.0001153 17:3732429 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant 1.844406 0.76938 0.50969 0.55562 0.988112618123153 0 7.98813572559606e-13 FALSE 0.000121829 ENSE00000535552_017 ENSE00000535552 017 17 3635632 3635801 - 30 99 41 G A 3635729 388 73 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCTTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732434 3732435 3732435 exon 32 0.323232323232323 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCTTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 200 1910 1 0.822940749836025 0.911470374918013 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.167583205556443 -0.0901547224394554 0.868123626485587 0.872756133359519 NA 0.0387142415584936 NA FALSE NA 1 5.003 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 1 NA AGG G,A 8.236e-06 17:3732435 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant 5.381458 0.64646 0.61968 0.55562 0.998249147311734 0 7.98813572559606e-13 FALSE 4.06098e-06 ENSE00000535552_019 ENSE00000535552 019 17 3635632 3635801 - 30 99 41 A G 3635734 390 68 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGACGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732439 3732440 3732440 exon 27 0.272727272727273 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGACGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 630 678 1 0.976427392131602 0.988213696065801 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.167583205556443 0.0633319198561213 0.868123626485587 0.872756133359519 NA 0.115457562706282 NA FALSE NA 0.907 0.125 rs150834989 upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 rs150834989 1 G:0.0034 G:0.0129 G:0 NA G:0 G:0 G:0 G:0.0159 G:0 CAT A,G 0.001425 17:3732440 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 synonymous_variant 0.541645 0.5565 0.16774 0.55562 0.712664252071016 0 7.98813572559606e-13 FALSE 0.00110461 ENSE00000535552_020 ENSE00000535552 020 17 3635632 3635801 - 30 99 41 C G 3635740 391 62 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCACTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732445 3732446 3732446 exon 21 0.212121212121212 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCACTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 405 120 0.923201318377809 0.899321073082172 0.91126119572999 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA 0.0907845239342512 -0.0137743991933088 0.868123626485587 0.872756133359519 NA 0.0385050623704712 NA FALSE NA 1 0.766 rs3744679 upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 rs3744679&COSM148153 1 G:0.0805 G:0.1044 G:0.219 NA G:0.0347 G:0.0497 G:0.0286 G:0.0962 G:0.0526 ACT C,G 0.073 17:3732446 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant 4.599426 0.94318 0.42959 0.55562 0.997554968152947 0 7.98813572559606e-13 FALSE 0.07914 ENSE00000535552_021 ENSE00000535552 021 17 3635632 3635801 - 30 99 41 G A 3635746 392 56 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAATATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732451 3732452 3732452 exon 15 0.151515151515152 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAATATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant 28 112 0.85 0.85 0.85 159 46 0.889648945545602 0.963980801882562 0.926814873714082 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 -0.040718916780326 0.00447166380915165 0.0572321511020444 0.0508853296070809 0.868123626485587 0.872756133359519 -0.0181236264855872 0.0540587403545627 0.0721823668401498 FALSE FALSE 0.002 0.272 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 1 NA TGT G,A 8.236e-06 17:3732452 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 synonymous_variant 0.906772 0.30833 0.02618 0.55562 0.870662625138916 0 7.98813572559606e-13 FALSE 4.06128e-06 ENSE00000535552_023 ENSE00000535552 023 17 3635632 3635801 - 30 99 41 G A 3635760 394 42 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGTCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732465 3732466 3732466 exon 1 0.0101010101010101 TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGTCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 102 430 0 0.000744524668907562 0.000372262334453781 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA -0.832416794443557 -0.912350947606573 0.868123626485587 0.872756133359519 NA -0.872383871025065 NA TRUE NA 1 3.476 . upstream_gene_variant MODIFIER ITGAE HGNC 6147 ENST00000570415 1 NA GGC G,A 1.647e-05 17:3732466 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 missense_variant 3.986108 0.93635 0.67466 0.55562 0.996874535293485 0 7.98813572559606e-13 FALSE 4.0622e-06 ENSE00000535552_025 ENSE00000535552 025 17 3635632 3635801 - 30 99 41 C G 3635773 396 29 TGTTTGGCTCTTTAAGAGAATGTCATCTCCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732478 3732479 3732479 upstr_intron -13 -0.292682926829268 TGTTTGGCTCTTTAAGAGAATGTCATCTCCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant 61 123 0.85 0.85 0.85 384 145 0.79842914387217 0.909638892411532 0.854034018141851 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 -0.040718916780326 0.00447166380915176 -0.0339876505713879 -0.00345657986394876 0.868123626485587 0.872756133359519 -0.0181236264855871 -0.0187221152176683 0.000598488732081182 FALSE FALSE 0.894 1.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:3732479 ITGAE HGNC Symbol protein_coding 86615 ENSG00000083457 ENSE00003467493 intron_variant 0.594086 0.89174 0.26528 0.119485 0.650243974524252 0.122252 7.98813572559606e-13 FALSE 4.06418e-06 ENSE00000535552_026 ENSE00000535552 026 17 3635632 3635801 - 30 99 41 C T 3635773 397 29 TGTTTGGCTCTTTAAGAGAATGTCATCTACTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 3732478 3732479 3732479 upstr_intron -13 -0.292682926829268 TGTTTGGCTCTTTAAGAGAATGTCATCTACTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT mutant NA NA NA NA NA 111 174 0.00271613320256682 0.00184370995922727 0.00227992158089705 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 NA NA -0.829700661240991 -0.911251762316253 0.868123626485587 0.872756133359519 NA -0.870476211778622 NA TRUE NA 0.894 1.26 NA NA NA ITGAE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGAE NA NA NA ENSG00000083457 ENSE00003467493 intron_variant 0.765085 0.88898 0.35266 0.119485 0.756157942947102 0.122252 7.98813572559606e-13 FALSE 4.06418e-06 ENSE00000535552_BRK ENSE00000535552 BRK 17 3635632 3635801 - 30 99 41 A,G; T,T NA NA NA TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACTTCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTCCGAGTCGGTTTGGACTGATTCGCTCTTCT 3732337 3732507 NA NA NA NA NA NA TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACTTCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTCCGAGTCGGTTTGGACTGATTCGCTCTTCT TGTTTGGCTCTTTAAGAGAATGTCATCTGCTCTTTTAACAGCCTCCCTCTCCAAACATTCAGTGTGATGACCCTCAGCCGGTTGCTTCTGTCCTGATCATGAACTGCAGGATTGGTCACCCCGTCCTCAAGAGGTCATCTGTGAGTCGGTTTGGACTGATTCGCTCTTCT control 357 143 0 0 0 196 1025 0.111434701495754 0.0919447548668345 0.101689728181294 0.890718916780326 0.845528336190848 0.832416794443557 0.913095472275481 -0.890718916780326 -0.845528336190848 -0.720982092947803 -0.821150717408646 0.868123626485587 0.872756133359519 -0.868123626485587 -0.771066405178225 0.0970572213073624 TRUE TRUE NA NA NA NA NA ITGAE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGAE NA NA NA ENSG00000083457 ENSE00003467493 NA NA NA NA NA NA NA 7.98813572559606e-13 FALSE NA ENSE00000540397_000 ENSE00000540397 000 1 40878641 40878810 + 47 87 36 NA NA NA NA NA AGGCTGTCCATACAGTGCAAATACTTCCCAACTTACCATTTTCACCTTCTCAAAAACAACAGGTTCCAATTTTTTTTCTGGAACTGGTTCGCTCCCTCTTTTCCACTTGTCATCTTTTTCTTTCTATAATGATTTAACAAGACAAAGAACACAGGGCCCAAGGTGACTAA 40412968 40413138 NA NA NA NA NA NA TTAGTCACCTTGGGCCCTGTGTTCTTTGTCTTGTTAAATCATTATAGAAAGAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGGTAAGTTGGGAAGTATTTGCACTGTATGGACAGCCT TTAGTCACCTTGGGCCCTGTGTTCTTTGTCTTGTTAAATCATTATAGAAAGAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGGTAAGTTGGGAAGTATTTGCACTGTATGGACAGCCT natural NA NA NA NA NA 1275 268 0.991247540223094 0.984581236443582 0.987914388333338 NA NA 0.991247540223094 0.984581236443582 NA NA 0 0 NA 0.987914388333338 NA 0 NA FALSE NA NA NA NA NA NA SMAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMAP2 NA NA NA ENSG00000084070 ENSE00000540397 NA NA NA NA NA NA NA 0.014285645188747 FALSE NA ENSE00000540397_003 ENSE00000540397 003 1 40878641 40878810 + 47 87 36 A T 40878684 1533 44 AGGCTGTCCATACAGTGCAAATACTTCCCAACTTACCATTTTCACCTTCTCAAAAACAACAGGTTCCAATTTTTTTTCTGGAACTGGTTCGCTCCCTCTTTTCCACTTGTCATCTTTTTCTTTCTAAAATGATTTAACAAGACAAAGAACACAGGGCCCAAGGTGACTAA 40412968 40413138 40413011 40413012 40413012 upstr_intron -4 -0.0638297872340425 TTAGTCACCTTGGGCCCTGTGTTCTTTGTCTTGTTAAATCATTTTAGAAAGAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGGTAAGTTGGGAAGTATTTGCACTGTATGGACAGCCT TTAGTCACCTTGGGCCCTGTGTTCTTTGTCTTGTTAAATCATTATAGAAAGAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGGTAAGTTGGGAAGTATTTGCACTGTATGGACAGCCT mutant NA NA NA NA NA 431 75 1 1 1 NA NA 0.991247540223094 0.984581236443582 NA NA 0.0087524597769062 0.0154187635564185 NA 0.987914388333338 NA 0.0120856116666623 NA FALSE NA 0.047 0.25 . splice_region_variant&intron_variant LOW SMAP2 HGNC 25082 ENST00000372718 4/9 rs367976366 1 NA T:0.0002 T:0 TAT A,T 3.295e-05 1:40413012 SMAP2 HGNC Symbol protein_coding 78476 ENSG00000084070 ENSE00000540397 splice_region_variant 0.949477 0.92018 0.35276 0.295142 0.651574051629075 0.269531 0.014285645188747 FALSE 1.24899e-05 ENSE00000540397_011 ENSE00000540397 011 1 40878641 40878810 + 47 87 36 T C 40878757 1541 117 AGGCTGTCCATACAGTGCAAATACTTCCCAACTTACCATTTTCACCTTCTCAAGAACAACAGGTTCCAATTTTTTTTCTGGAACTGGTTCGCTCCCTCTTTTCCACTTGTCATCTTTTTCTTTCTATAATGATTTAACAAGACAAAGAACACAGGGCCCAAGGTGACTAA 40412968 40413138 40413084 40413085 40413085 exon -18 0.804597701149425 TTAGTCACCTTGGGCCCTGTGTTCTTTGTCTTGTTAAATCATTATAGAAAGAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTCTTGAGAAGGTGAAAATGGTAAGTTGGGAAGTATTTGCACTGTATGGACAGCCT TTAGTCACCTTGGGCCCTGTGTTCTTTGTCTTGTTAAATCATTATAGAAAGAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGGTAAGTTGGGAAGTATTTGCACTGTATGGACAGCCT mutant NA NA NA NA NA 28 182 1 1 1 NA NA 0.991247540223094 0.984581236443582 NA NA 0.0087524597769062 0.0154187635564185 NA 0.987914388333338 NA 0.0120856116666623 NA FALSE NA 1 7.433 . missense_variant MODERATE SMAP2 HGNC 25082 ENST00000372718 5/10 1 tolerated(0.35) probably_damaging(0.97) NA TTT T,C 8.236e-06 1:40413085 SMAP2 HGNC Symbol protein_coding 78476 ENSG00000084070 ENSE00000540397 missense_variant 4.279067 0.99307 0.99726 0.706298 0.92339007096477 0 0.014285645188747 FALSE 4.06484e-06 ENSE00000540397_012 ENSE00000540397 012 1 40878641 40878810 + 47 87 36 G A 40878798 1542 158 AGGCTGTCCATATAGTGCAAATACTTCCCAACTTACCATTTTCACCTTCTCAAAAACAACAGGTTCCAATTTTTTTTCTGGAACTGGTTCGCTCCCTCTTTTCCACTTGTCATCTTTTTCTTTCTATAATGATTTAACAAGACAAAGAACACAGGGCCCAAGGTGACTAA 40412968 40413138 40413125 40413126 40413126 downstr_intron 24 1.68571428571429 TTAGTCACCTTGGGCCCTGTGTTCTTTGTCTTGTTAAATCATTATAGAAAGAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGGTAAGTTGGGAAGTATTTGCACTATATGGACAGCCT TTAGTCACCTTGGGCCCTGTGTTCTTTGTCTTGTTAAATCATTATAGAAAGAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGGTAAGTTGGGAAGTATTTGCACTGTATGGACAGCCT mutant NA NA NA NA NA 24 134 1 1 1 NA NA 0.991247540223094 0.984581236443582 NA NA 0.0087524597769062 0.0154187635564185 NA 0.987914388333338 NA 0.0120856116666623 NA FALSE NA 0 -1.583 . intron_variant MODIFIER SMAP2 HGNC 25082 ENST00000372718 5/9 rs371822408 1 NA A:0.0002 A:0 TGT G,A 8.237e-06 1:40413126 SMAP2 HGNC Symbol protein_coding 78476 ENSG00000084070 ENSE00000540397 intron_variant 0.203988 0.11425 0.02814 0.156188 0.667809160005871 0.0770559 0.014285645188747 FALSE 4.07087e-06 ENSE00000542500_000 ENSE00000542500 000 2 26420524 26420693 - 36 87 47 NA NA NA NA NA AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 NA NA NA NA NA NA ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT natural 71 50 0.996671273491989 0.993777595894749 0.995224434693369 2421 2874 0.995993080264392 0.990768238634631 0.993380659449512 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 0 0 0 0 0.995224434693369 0.993380659449512 0 0 0 FALSE FALSE NA NA NA NA NA HADHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HADHA NA NA NA ENSG00000084754 ENSE00000542500 NA NA NA NA NA NA NA 0.0151113309974031 FALSE NA ENSE00000542500_001 ENSE00000542500 001 2 26420524 26420693 - 36 87 47 G T 26420535 334 159 AAAACATCTCATGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197665 26197666 26197666 downstr_intron 25 1.71428571428571 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCATGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 880 693 0.946588861378727 0.999543298298344 0.973066079838535 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA -0.0494042188856653 0.00877505966371273 0.995224434693369 0.993380659449512 NA -0.0203145796109763 NA FALSE NA 0.022 0.943 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA AGG G,T 1.647e-05 2:26197666 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 intron_variant 0.188725 0.346 0.3884 0.099367 0.496308437420465 0.598339 0.0151113309974031 FALSE 8.12929e-06 ENSE00000542500_002 ENSE00000542500 002 2 26420524 26420693 - 36 87 47 G C 26420536 335 158 AAAACATCTCAGCGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197666 26197667 26197667 downstr_intron 24 1.68571428571429 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACGCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 188 349 1 0.973741626338435 0.986870813169217 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 -0.0170266122961962 0.995224434693369 0.993380659449512 NA -0.00650984628029422 NA FALSE NA 0.015 0.516 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA GGG G,C 8.236e-06 2:26197667 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 intron_variant -0.140989 0.26703 0.30078 0.099367 0.454419486616797 0.0577449 0.0151113309974031 FALSE 4.06441e-06 ENSE00000542500_003 ENSE00000542500 003 2 26420524 26420693 - 36 87 47 T C 26420546 336 148 AAAACATCTCAGGGTTTTTCTCCGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197676 26197677 26197677 downstr_intron 14 1.4 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACGGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 164 621 1 1 1 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 0.00923176136536907 0.995224434693369 0.993380659449512 NA 0.00661934055048841 NA FALSE NA 0.032 1.369 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:26197677 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 intron_variant 0.308146 0.29068 0.33047 0.099367 0.574318371211986 0.151613 0.0151113309974031 FALSE 8.12566e-06 ENSE00000542500_004 ENSE00000542500 004 2 26420524 26420693 - 36 87 47 T A 26420546 337 148 AAAACATCTCAGGGTTTTTCTCAGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197676 26197677 26197677 downstr_intron 14 1.4 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACTGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 46 172 1 0.996840945332675 0.998420472666338 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 0.00607270669804427 0.995224434693369 0.993380659449512 NA 0.00503981321682601 NA FALSE NA 0.032 1.369 NA NA NA HADHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HADHA NA NA NA ENSG00000084754 ENSE00000542500 intron_variant 0.611329 0.32006 0.28879 0.099367 0.646675123580618 0.151613 0.0151113309974031 FALSE 4.06283e-06 ENSE00000542500_005 ENSE00000542500 005 2 26420524 26420693 - 36 87 47 C T 26420551 338 143 AAAACATCTCAGGGTTTTTCTCTGTTCTGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197681 26197682 26197682 downstr_intron 9 1.25714285714286 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCAGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 31 29 1 1 1 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 0.00923176136536907 0.995224434693369 0.993380659449512 NA 0.00661934055048841 NA FALSE NA 0.001 -0.348 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA CCG C,T 3.295e-05 2:26197682 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 intron_variant 0.223138 0.25093 0.08188 0.099367 0.749302501431421 0.165975 0.0151113309974031 FALSE 2.03153e-05 ENSE00000542500_006 ENSE00000542500 006 2 26420524 26420693 - 36 87 47 G A 26420552 339 142 AAAACATCTCAGGGTTTTTCTCTGTTCCAAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197682 26197683 26197683 downstr_intron 8 1.22857142857143 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTTGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 401 358 0.853750258985066 0.999451245448585 0.926600752216826 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA -0.142242821279326 0.00868300681395429 0.995224434693369 0.993380659449512 NA -0.066779907232686 NA FALSE NA 0.412 2.387 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:26197683 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 splice_region_variant 0.897735 0.50941 0.19037 0.099367 0.580406598846764 0.165975 0.0151113309974031 FALSE 8.12625e-06 ENSE00000542500_007 ENSE00000542500 007 2 26420524 26420693 - 36 87 47 G T 26420552 340 142 AAAACATCTCAGGGTTTTTCTCTGTTCCTAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197682 26197683 26197683 downstr_intron 8 1.22857142857143 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTAGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 186 504 1 1 1 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 0.00923176136536907 0.995224434693369 0.993380659449512 NA 0.00661934055048841 NA FALSE NA 0.412 2.387 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HADHA NA NA NA ENSG00000084754 ENSE00000542500 splice_region_variant 0.830731 0.53719 0.57344 0.099367 0.625382812966993 0.165975 0.0151113309974031 FALSE 4.06312e-06 ENSE00000542500_011 ENSE00000542500 011 2 26420524 26420693 - 36 87 47 G T 26420587 344 107 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCTATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197717 26197718 26197718 exon -28 0.689655172413793 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATAGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 174 43 1 0.999110017756007 0.999555008878003 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 0.00834177912137568 0.995224434693369 0.993380659449512 NA 0.00617434942849171 NA FALSE NA 0.05 -0.346 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:26197718 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 synonymous_variant 1.549236 0.92587 0.39194 0.722319 0.688345050663534 0 0.0151113309974031 FALSE 3.6561e-05 ENSE00000542500_012 ENSE00000542500 012 2 26420524 26420693 - 36 87 47 G A 26420587 345 107 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCAATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197717 26197718 26197718 exon -28 0.689655172413793 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATTGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 286 2224 0.998697716694785 0.999157085573931 0.998927401134358 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00270463643039232 0.0083888469393002 0.995224434693369 0.993380659449512 NA 0.00554674168484626 NA FALSE NA 0.05 -0.346 NA NA NA HADHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HADHA NA NA NA ENSG00000084754 ENSE00000542500 synonymous_variant 1.67859 0.91427 0.16413 0.722319 0.70739854739363 0 0.0151113309974031 FALSE 8.12466e-06 ENSE00000542500_013 ENSE00000542500 013 2 26420524 26420693 - 36 87 47 T C 26420598 346 96 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGACTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197728 26197729 26197729 exon -39 0.563218390804598 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAGTCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 403 998 1 0.963834737032113 0.981917368516056 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 -0.026933501602518 0.995224434693369 0.993380659449512 NA -0.0114632909334551 NA FALSE NA 1 7.947 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA ATT T,C 8.236e-06 2:26197729 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 missense_variant 4.226335 0.9741 0.97471 0.722319 0.999205880975915 0 0.0151113309974031 FALSE 1.2186e-05 ENSE00000542500_014 ENSE00000542500 014 2 26420524 26420693 - 36 87 47 G T 26420600 347 94 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTTGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197730 26197731 26197731 exon -41 0.540229885057471 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCAAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 485 642 1 0.998194367246154 0.999097183623077 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 0.00742612861152314 0.995224434693369 0.993380659449512 NA 0.00571652417356544 NA FALSE NA 1 9.752 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 rs201472602 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TGG G,T 8.236e-06 2:26197731 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 missense_variant 6.439996 0.98008 0.98561 0.722319 0.994015506602818 0 0.0151113309974031 FALSE 4.06177e-06 ENSE00000542500_015 ENSE00000542500 015 2 26420524 26420693 - 36 87 47 A G 26420605 348 89 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGGGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197735 26197736 26197736 exon 42 0.482758620689655 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCCCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 89 327 1 0.972147084231046 0.986073542115523 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 -0.0186211544035848 0.995224434693369 0.993380659449512 NA -0.00730711733398853 NA FALSE NA 1 1.045 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA GAG A,G 8.236e-06 2:26197736 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 synonymous_variant 0.539278 0.92918 0.79693 0.722319 0.608051538085472 0 0.0151113309974031 FALSE 1.21853e-05 ENSE00000542500_016 ENSE00000542500 016 2 26420524 26420693 - 36 87 47 T C 26420611 349 83 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGACGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197741 26197742 26197742 exon 36 0.413793103448276 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACGTCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 313 141 0.980785214485606 1 0.990392607242803 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA -0.0152078657787867 0.00923176136536907 0.995224434693369 0.993380659449512 NA -0.00298805220670884 NA FALSE NA 0 -2.15 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA ATG T,C 8.236e-06 2:26197742 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 synonymous_variant 1.041112 0.90981 0.28677 0.722319 0.689794817383014 0 0.0151113309974031 FALSE 4.06174e-06 ENSE00000542500_017 ENSE00000542500 017 2 26420524 26420693 - 36 87 47 G A 26420614 350 80 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTATTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197744 26197745 26197745 exon 33 0.379310344827586 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAATACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 293 554 0.995999626033534 0.995623970823211 0.995811798428373 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 6.54576914194127e-06 0.00485573218857993 0.995224434693369 0.993380659449512 NA 0.00243113897886094 NA FALSE NA 1 5.639 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA TGT G,A 5.765e-05 2:26197745 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 synonymous_variant 1.292488 0.98003 0.97015 0.722319 0.776310954653009 0 0.0151113309974031 FALSE 6.4991e-05 ENSE00000542500_018 ENSE00000542500 018 2 26420524 26420693 - 36 87 47 T C 26420619 351 75 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACCGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197749 26197750 26197750 exon 28 0.32183908045977 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCGGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 77 160 1 0.999761790315476 0.999880895157738 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 0.00899355168084504 0.995224434693369 0.993380659449512 NA 0.00650023570822639 NA FALSE NA 1 6.086 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA CTG T,C 8.236e-06 2:26197750 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 missense_variant 6.256009 0.97449 0.96674 0.722319 0.998836745315973 0 0.0151113309974031 FALSE NA ENSE00000542500_019 ENSE00000542500 019 2 26420524 26420693 - 36 87 47 G T 26420621 352 73 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGTCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197751 26197752 26197752 exon 26 0.298850574712644 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGACAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 1067 432 0.999856353246571 0.992951744282568 0.99640404876457 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00386327298217848 0.00218350564793746 0.995224434693369 0.993380659449512 NA 0.00302338931505797 NA FALSE NA 1 7.888 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA GGC G,T 1.647e-05 2:26197752 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 missense_variant 6.981836 0.97015 0.9606 0.722319 0.998049155793714 0 0.0151113309974031 FALSE 1.62471e-05 ENSE00000542500_020 ENSE00000542500 020 2 26420524 26420693 - 36 87 47 G A 26420632 353 62 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAATGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197762 26197763 26197763 exon 15 0.172413793103448 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCATTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 457 191 1 0.987327732336671 0.993663866168335 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00400691973560774 -0.00344050629795989 0.995224434693369 0.993380659449512 NA 0.000283206718823925 NA FALSE NA 1 3.402 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA AGT G,A 1.647e-05 2:26197763 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 synonymous_variant 0.639706 0.93592 0.88739 0.722319 0.646593881601137 0 0.0151113309974031 FALSE 1.21851e-05 ENSE00000542500_022 ENSE00000542500 022 2 26420524 26420693 - 36 87 47 G C 26420640 355 54 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGCAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197770 26197771 26197771 exon 7 0.0804597701149425 ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTGCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 65 354 0.969042413203336 1 0.984521206601668 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA -0.0269506670610561 0.00923176136536907 0.995224434693369 0.993380659449512 NA -0.00885945284784351 NA FALSE NA 1 4.003 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA GGA G,C 8.236e-06 2:26197771 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 missense_variant 5.338237 0.96446 0.95461 0.722319 0.996646323261883 0 0.0151113309974031 FALSE 8.12407e-06 ENSE00000542500_023 ENSE00000542500 023 2 26420524 26420693 - 36 87 47 C A 26420661 356 33 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGAATTTAACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197791 26197792 26197792 upstr_intron -15 -0.297872340425532 ATCTCCCAGGCCTACCTGACACATTGTTAAATTCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 691 799 0.998320387697354 1 0.999160193848677 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00232730743296172 0.00923176136536907 0.995224434693369 0.993380659449512 NA 0.0057795343991654 NA FALSE NA 0 0.523 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 1 NA GCA C,A 1.647e-05 2:26197792 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 intron_variant 1.08438 0.96449 0.47233 0.099367 0.691320734645111 0.943147 0.0151113309974031 FALSE 8.12453e-06 ENSE00000542500_024 ENSE00000542500 024 2 26420524 26420693 - 36 87 47 A T 26420666 357 28 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTTACAATGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197796 26197797 26197797 upstr_intron -20 -0.404255319148936 ATCTCCCAGGCCTACCTGACACATTGTAAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 1545 317 0.998224012663112 0.992441651267235 0.995332831965174 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.00223093239871985 0.00167341263260445 0.995224434693369 0.993380659449512 NA 0.00195217251566215 NA FALSE NA 0.002 0.016 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 rs572765453 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TAA A,T 1.647e-05 2:26197797 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 intron_variant -0.166255 0.32023 0.25512 0.099367 0.345531547437695 0.0698051 0.0151113309974031 FALSE 1.21875e-05 ENSE00000542500_025 ENSE00000542500 025 2 26420524 26420693 - 36 87 47 A G 26420670 358 24 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAGTGTGTCAGGTAGGCCTGGGAGAT 26197654 26197824 26197800 26197801 26197801 upstr_intron -24 -0.48936170212766 ATCTCCCAGGCCTACCTGACACACTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 895 477 0.991658317828697 0.969620992432854 0.980639655130776 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA -0.00433476243569497 -0.0211472462017769 0.995224434693369 0.993380659449512 NA -0.0127410043187359 NA FALSE NA 0.002 0.277 rs77141401 upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 rs77141401 1 G:0.0044 G:0.0151 G:0.0029 NA G:0 G:0 G:0 G:0.0109 G:0 AAT A,G 0.001112 2:26197801 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 intron_variant 0.244579 0.28993 0.12052 0.099367 0.592854830366111 0.0698051 0.0151113309974031 FALSE 0.000824761 ENSE00000542500_026 ENSE00000542500 026 2 26420524 26420693 - 36 87 47 G A 26420679 359 15 AAAACATCTCAGGGTTTTTCTCTGTTCCGAGTTTACCTTCTCAGGTCTTTTGCTGACAGCAGCGATTTCACTGATTGGGAGAGCAGATGTGTTACTGGCAAAGATACAGTGATCTGGAATCACCTGCAGGGGAAAAGCATTTAACAATGTGTCAGATAGGCCTGGGAGAT 26197654 26197824 26197809 26197810 26197810 upstr_intron -33 -0.680851063829787 ATCTCCCAGGCCTATCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT ATCTCCCAGGCCTACCTGACACATTGTTAAATGCTTTTCCCCTGCAGGTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCAATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAGGTAAACTCGGAACAGAGAAAAACCCTGAGATGTTTT mutant NA NA NA NA NA 1154 1258 0.996395953118655 0.90752499743085 0.951960475274753 0.996671273491989 0.993777595894749 0.995993080264392 0.990768238634631 NA NA 0.000402872854262437 -0.0832432412037805 0.995224434693369 0.993380659449512 NA -0.041420184174759 NA FALSE NA 0 -0.05 . upstream_gene_variant MODIFIER HADHA HGNC 4801 ENST00000492433 rs375746236 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGT G,A 2.471e-05 2:26197810 HADHA HGNC Symbol protein_coding 54091 ENSG00000084754 ENSE00000542500 intron_variant 0.207486 0.26405 0.14897 0.099367 0.536635940828655 0.0698051 0.0151113309974031 FALSE 2.84539e-05 ENSE00000564470_000 ENSE00000564470 000 12 120594677 120594846 - 39 81 50 NA NA NA NA NA TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 NA NA NA NA NA NA TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT natural 124 292 0.891133013932644 0.888251940852734 0.889692477392689 647 1001 0.962678897861658 0.947993742070639 0.955336319966149 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 0 0 0 0 0.889692477392689 0.955336319966149 0 0 0 FALSE FALSE NA NA NA NA NA GCN1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GCN1 NA NA NA ENSG00000089154 ENSE00000564470 NA NA NA NA NA NA NA NA NA NA ENSE00000564470_002 ENSE00000564470 002 12 120594677 120594846 - 39 81 50 T C 120594719 3470 128 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTGCAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156914 120156915 120156915 exon -4 0.962962962962963 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTGCAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 178 331 0.846914488730965 0.85 0.848457244365483 NA NA NA NA NA 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.0442185252016786 -0.0382519408527341 NA NA 0.889692477392689 0.955336319966149 -0.0412352330272063 NA NA NA FALSE 0.014 -1.369 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 27/58 1 NA GTA T,C 1.651e-05 12:120156915 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 synonymous_variant 0.598598 0.2884 0.07217 0.706548 0.641397766282609 0 NA NA 1.62537e-05 ENSE00000564470_003 ENSE00000564470 003 12 120594677 120594846 - 39 81 50 A G 120594721 3471 126 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCCTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156916 120156917 120156917 exon -6 0.938271604938272 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCCTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 83 38 0.85 0.85 0.85 11 15 0.8 1 0.9 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.041133013932644 -0.0382519408527341 -0.162678897861658 0.0520062579293608 0.889692477392689 0.955336319966149 -0.0396924773926891 -0.0553363199661486 0.0156438425734595 FALSE FALSE 1 1.901 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 27/58 1 NA AAG A,G 2.477e-05 12:120156917 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 synonymous_variant 0.999631 0.96219 0.41784 0.706548 0.679359817858196 0 NA NA 3.25066e-05 ENSE00000564470_004 ENSE00000564470 004 12 120594677 120594846 - 39 81 50 C T 120594723 3472 124 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCACTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156918 120156919 120156919 exon -8 0.91358024691358 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCACTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 16 41 0.85 0.85 0.85 NA NA NA NA NA 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.0411330139326441 -0.0382519408527341 NA NA 0.889692477392689 0.955336319966149 -0.0396924773926891 NA NA NA FALSE 1 2.516 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 27/58 rs201424442&COSM935871 1 benign(0.256) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 GCG C,T 3.303e-05 12:120156919 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 missense_variant 5.482718 0.98275 0.95962 0.706548 0.99937918192604 0 NA NA 2.43819e-05 ENSE00000564470_008 ENSE00000564470 008 12 120594677 120594846 - 39 81 50 G A 120594735 3476 112 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGATGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156930 120156931 120156931 exon -20 0.765432098765432 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGATGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 83 62 0.843367703186467 0.85 0.846683851593233 34 169 0.868834674724916 0.861605350086597 0.865220012405756 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.0477653107461773 -0.038251940852734 -0.093844223136742 -0.0863883919840427 0.889692477392689 0.955336319966149 -0.0430086257994556 -0.0901163075603924 0.0471076817609367 FALSE FALSE 1 5.453 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 27/58 1 benign(0.417) NA CGT G,A 6.605e-05 12:120156931 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 missense_variant 4.555044 0.98904 0.98464 0.706548 0.99512966669313 0 NA NA 4.47024e-05 ENSE00000564470_009 ENSE00000564470 009 12 120594677 120594846 - 39 81 50 C T 120594739 3477 108 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCAGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156934 120156935 120156935 exon -24 0.716049382716049 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCAGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 86 65 0.85 0.83298506839466 0.84149253419733 301 1708 0.927451017913897 0.873753987075406 0.900602502494652 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.041133013932644 -0.055266872458074 -0.0352278799477607 -0.0742397549952332 0.889692477392689 0.955336319966149 -0.048199943195359 -0.0547338174714969 0.00653387427613789 FALSE FALSE 1 4.958 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 27/58 1 possibly_damaging(0.859) NA CCG C,T 1.651e-05 12:120156935 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 missense_variant 6.428887 0.99175 0.98005 0.706548 0.999045558187335 0 NA NA 2.43841e-05 ENSE00000564470_010 ENSE00000564470 010 12 120594677 120594846 - 39 81 50 G A 120594740 3478 107 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATTGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156935 120156936 120156936 exon -25 0.703703703703704 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATTGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 59 77 0.85 0.85 0.85 NA NA NA NA NA 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.041133013932644 -0.0382519408527341 NA NA 0.889692477392689 0.955336319966149 -0.0396924773926891 NA NA NA FALSE 0.803 -0.066 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:120156936 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 synonymous_variant 2.080376 0.50407 0.35923 0.706548 0.889764233260021 0 NA NA 4.06415e-05 ENSE00000564470_012 ENSE00000564470 012 12 120594677 120594846 - 39 81 50 G C 120594740 3480 107 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATGGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156935 120156936 120156936 exon -25 0.703703703703704 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATGGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 42 21 0 0.16398699431719 0.0819934971585951 NA NA NA NA NA 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.891133013932644 -0.724264946535544 NA NA 0.889692477392689 0.955336319966149 -0.807698980234094 NA NA NA TRUE 0.803 -0.066 NA NA NA GCN1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GCN1 NA NA NA ENSG00000089154 ENSE00000564470 missense_variant 3.248154 0.56755 0.67361 0.706548 0.991188313248292 0 NA NA 8.1283e-06 ENSE00000564470_013 ENSE00000564470 013 12 120594677 120594846 - 39 81 50 C T 120594743 3481 104 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTAATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156938 120156939 120156939 exon -28 0.666666666666667 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTAATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 19 74 0.820601796040596 0.85 0.835300898020298 NA NA NA NA NA 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.070531217892048 -0.0382519408527341 NA NA 0.889692477392689 0.955336319966149 -0.054391579372391 NA NA NA FALSE 1 0.976 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 27/58 1 NA TCA C,T 8.256e-06 12:120156939 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 synonymous_variant 1.99952 0.98863 0.94124 0.706548 0.912455098736151 0 NA NA 4.06369e-06 ENSE00000564470_014 ENSE00000564470 014 12 120594677 120594846 - 39 81 50 C G 120594746 3482 101 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGCGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156941 120156942 120156942 exon -31 0.62962962962963 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGCGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant NA NA NA NA NA 111 57 0.979974318675772 1 0.989987159337886 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 NA NA 0.0172954208141144 0.0520062579293608 0.889692477392689 0.955336319966149 NA 0.0346508393717376 NA FALSE NA 1 0.943 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 27/58 1 benign(0.312) NA CCC C,G 8.256e-06 12:120156942 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 missense_variant 3.995352 0.9728 0.93493 0.706548 0.931826077514428 0 NA NA 4.06352e-06 ENSE00000564470_015 ENSE00000564470 015 12 120594677 120594846 - 39 81 50 C T 120594759 3483 88 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCATCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156954 120156955 120156955 exon 38 0.469135802469136 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCATCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant NA NA NA NA NA 513 51 0.854431723519724 1 0.927215861759862 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 NA NA -0.108247174341934 0.0520062579293608 0.889692477392689 0.955336319966149 NA -0.0281204582062864 NA FALSE NA 1 2.408 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 27/58 rs201401558&COSM239960 1 benign(0.247) NA T:0 T:0.0001 ACG C,T 5.781e-05 12:120156955 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 missense_variant 4.805957 0.98358 0.92067 0.706548 0.99941329837995 0 NA NA 3.65785e-05 ENSE00000564470_016 ENSE00000564470 016 12 120594677 120594846 - 39 81 50 C T 120594772 3484 75 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCATGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156967 120156968 120156968 exon 25 0.308641975308642 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCATGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant NA NA NA NA NA 903 247 0.923836365491705 1 0.961918182745852 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 NA NA -0.0388425323699533 0.0520062579293608 0.889692477392689 0.955336319966149 NA 0.00658186277970374 NA FALSE NA 0.927 3.13 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 27/58 1 benign(0.444) NA ACG C,T 3.304e-05 12:120156968 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 missense_variant 3.726661 0.9502 0.81998 0.706548 0.988020932303729 0 NA NA 1.21972e-05 ENSE00000564470_017 ENSE00000564470 017 12 120594677 120594846 - 39 81 50 G A 120594773 3485 74 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGTGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156968 120156969 120156969 exon 24 0.296296296296296 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGTGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant NA NA NA NA NA 117 296 0.965692347607481 0.999465326166631 0.982578836887056 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 NA NA 0.0030134497458234 0.0514715840959922 0.889692477392689 0.955336319966149 NA 0.0272425169209078 NA FALSE NA 0 -6.746 rs181439817 synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 27/58 rs181439817 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0005 CGC G,A 9.087e-05 12:120156969 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 synonymous_variant 1.006844 0.0612 0.01326 0.706548 0.910981038232321 0 NA NA 9.35195e-05 ENSE00000564470_018 ENSE00000564470 018 12 120594677 120594846 - 39 81 50 C T 120594788 3486 59 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCAGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120156983 120156984 120156984 exon 9 0.111111111111111 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCAGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 16 10 0.85 0.742192924399338 0.796096462199669 NA NA NA NA NA 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.0411330139326441 -0.146059016453396 NA NA 0.889692477392689 0.955336319966149 -0.0935960151930201 NA NA NA FALSE 0 -2.958 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 27/58 rs374203729 1 NA T:0 T:0.0001 CCG C,T 8.264e-06 12:120156984 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 synonymous_variant 1.287504 0.0838 0.01493 0.706548 0.902361087390703 0 NA NA 2.84722e-05 ENSE00000564470_020 ENSE00000564470 020 12 120594677 120594846 - 39 81 50 C T 120594808 3488 39 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCATTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120157003 120157004 120157004 upstr_intron -12 -0.22 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCATTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 32 99 0.85 0.85 0.85 NA NA NA NA NA 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.0411330139326441 -0.0382519408527341 NA NA 0.889692477392689 0.955336319966149 -0.0396924773926891 NA NA NA FALSE 0 -1.489 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 26/57 1 NA ACG C,T 3.307e-05 12:120157004 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 non_coding_transcript_exon_variant 0.600568 0.13896 0.02298 0.115753 0.876168655162497 0.258696 NA NA 2.44698e-05 ENSE00000564470_022 ENSE00000564470 022 12 120594677 120594846 - 39 81 50 C T 120594811 3490 36 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTACCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120157006 120157007 120157007 upstr_intron -15 -0.28 TACAGACCTCCCCACAGCCTCATCTCGACTTACCTACCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant NA NA NA NA NA 717 432 0.919320461002171 0.944245479325413 0.931782970163792 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 NA NA -0.0433584368594875 -0.00374826274522599 0.889692477392689 0.955336319966149 NA -0.0235533498023567 NA FALSE NA 0 -0.463 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 26/57 1 NA GCA C,T 1.653e-05 12:120157007 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 non_coding_transcript_exon_variant 0.619158 0.21998 0.07047 0.115753 0.904723043690416 0.170065 NA NA 1.22432e-05 ENSE00000564470_024 ENSE00000564470 024 12 120594677 120594846 - 39 81 50 G C 120594823 3492 24 TACAGACCTCCCCACAGCCTCATGTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120157018 120157019 120157019 upstr_intron -27 -0.52 TACAGACCTCCCCACAGCCTCATGTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 19 51 0.85 0.85 0.85 1470 957 0.950215705525868 0.773966473970713 0.862091089748291 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.041133013932644 -0.038251940852734 -0.0124631923357899 -0.174027268099926 0.889692477392689 0.955336319966149 -0.039692477392689 -0.093245230217858 0.053552752825169 FALSE FALSE 0.002 0.486 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 26/57 1 NA AGA G,C 8.267e-06 12:120157019 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 non_coding_transcript_exon_variant -0.127042 0.27039 0.18698 0.115753 0.325136237920989 0.143117 NA NA 4.10769e-06 ENSE00000564470_025 ENSE00000564470 025 12 120594677 120594846 - 39 81 50 T C 120594825 3493 22 TACAGACCTCCCCACAGCCTCGTCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120157020 120157021 120157021 upstr_intron -29 -0.56 TACAGACCTCCCCACAGCCTCGTCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant NA NA NA NA NA 12 99 0.8 1 0.9 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 NA NA -0.162678897861658 0.0520062579293608 0.889692477392689 0.955336319966149 NA -0.0553363199661486 NA FALSE NA 0 -0.754 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 26/57 1 NA ATG T,C 1.653e-05 12:120157021 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 non_coding_transcript_exon_variant 0.021712 0.18366 0.04898 0.115753 0.239440093104308 0.143117 NA NA 8.21834e-06 ENSE00000564470_026 ENSE00000564470 026 12 120594677 120594846 - 39 81 50 T C 120594831 3494 16 TACAGACCTCCCCACGGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 120157026 120157027 120157027 upstr_intron -35 -0.68 TACAGACCTCCCCACGGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT mutant 42 34 0.804883531607816 0.850090342500995 0.827486937054406 61 31 1 0.994863667242231 0.997431833621115 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 -0.0862494823248275 -0.0381615983517394 0.0373211021383419 0.0468699251715917 0.889692477392689 0.955336319966149 -0.0622055403382835 0.0420955136549668 0.10430105399325 FALSE FALSE 0 -0.287 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 26/57 1 NA CTG T,C 4.134e-05 12:120157027 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000564470 non_coding_transcript_exon_variant 0.331864 0.219 0.09254 0.115753 0.501256428858798 0.15954 NA NA 7.86411e-05 ENSE00000564470_BRK ENSE00000564470 BRK 12 120594677 120594846 - 39 81 50 A,G; T,T NA NA NA TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTTTAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGCCGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT 120156872 120157042 NA NA NA NA NA NA TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTTTAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGCCGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT TACAGACCTCCCCACAGCCTCATCTCGACTTACCTGCCGTTCTCTCCTAGAATGGCCCGGAGTTGCTGCCTCGCGTGGCCATGCTGCGTCTTCTGACTTGGGTGATCGGGACGGGCTCGCCTCGCTTACAGGTGATGTGGTTTTCAGTTGGCTGTTGCTGTGACTCAGTT control NA NA NA NA NA 140 65 0 0 0 0.891133013932644 0.888251940852734 0.962678897861658 0.947993742070639 NA NA -0.962678897861658 -0.947993742070639 0.889692477392689 0.955336319966149 NA -0.955336319966149 NA TRUE NA NA NA NA NA NA GCN1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GCN1 NA NA NA ENSG00000089154 ENSE00000564470 NA NA NA NA NA NA NA NA NA NA ENSE00000576053_000 ENSE00000576053 000 19 10099747 10099916 - 53 54 63 NA NA NA NA NA ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 NA NA NA NA NA NA ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT natural 14 59 0.963274535231128 0.918648574356982 0.940961554794055 1293 2101 0.728754049652434 0.810571284551335 0.769662667101884 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 0 0 0 0 0.940961554794055 0.769662667101884 0 0 0 FALSE FALSE NA NA NA NA NA COL5A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA ENSG00000080573 ENSE00000576053 NA NA NA NA NA NA NA 7.11903366992312e-07 FALSE NA ENSE00000576053_003 ENSE00000576053 003 19 10099747 10099916 - 53 54 63 T C 10099778 819 139 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTGTGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989101 9989102 9989102 downstr_intron 22 1.42307692307692 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTGTGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant 118 154 0.85 0.85 0.85 NA NA NA NA NA 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 -0.113274535231128 -0.0686485743569825 NA NA 0.940961554794055 0.769662667101884 -0.0909615547940553 NA NA NA FALSE 0 -0.646 . intron_variant MODIFIER COL5A3 HGNC 14864 ENST00000264828 27/66 1 NA ATA T 8.236e-06 19:9989102 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant 0.031112 0.10321 0.00193 0.074636 0.534453878813565 0.0448725 7.11903366992312e-07 FALSE 4.0618e-06 ENSE00000576053_004 ENSE00000576053 004 19 10099747 10099916 - 53 54 63 C A 10099788 820 129 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACTCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989111 9989112 9989112 downstr_intron 12 1.23076923076923 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACTCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 93 827 0.95 0.969305142907368 0.959652571453684 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.221245950347566 0.158733858356033 0.940961554794055 0.769662667101884 NA 0.1899899043518 NA FALSE NA 0 -2.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:9989112 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant 0.944905 0.14895 0.02011 0.074636 0.719489460235367 0.0455939 7.11903366992312e-07 FALSE 0.000503651 ENSE00000576053_005 ENSE00000576053 005 19 10099747 10099916 - 53 54 63 C T 10099788 821 129 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACACTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989111 9989112 9989112 downstr_intron 12 1.23076923076923 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACACTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 415 171 0.929563993378338 0.968555643830562 0.94905981860445 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.200809943725904 0.157984359279227 0.940961554794055 0.769662667101884 NA 0.179397151502565 NA FALSE NA 0 -2.01 NA NA NA COL5A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA ENSG00000080573 ENSE00000576053 intron_variant 0.851878 0.14375 0.00416 0.074636 0.735492476969077 0.0455939 7.11903366992312e-07 FALSE 4.06171e-06 ENSE00000576053_006 ENSE00000576053 006 19 10099747 10099916 - 53 54 63 G A 10099789 822 128 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATATGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989112 9989113 9989113 downstr_intron 11 1.21153846153846 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATATGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 363 1479 0.87048325977248 0.988284813888398 0.929384036830439 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.141729210120046 0.177713529337063 0.940961554794055 0.769662667101884 NA 0.159721369728555 NA FALSE NA 0.013 0.274 rs183897695 intron_variant MODIFIER COL5A3 HGNC 14864 ENST00000264828 27/66 rs183897695 1 A:0.0012 A:0.0008 A:0.0043 NA A:0 A:0.002 A:0 A:0 A:0.001 CGT G 0.00103 19:9989113 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant 1.27321 0.1865 0.00322 0.074636 0.880102063387039 0.0528747 7.11903366992312e-07 FALSE 0.00111305 ENSE00000576053_008 ENSE00000576053 008 19 10099747 10099916 - 53 54 63 C A 10099810 824 107 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCTGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989133 9989134 9989134 exon -11 0.814814814814815 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCTGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant 20 37 0.85 0.85 0.85 NA NA NA NA NA 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 -0.113274535231128 -0.0686485743569825 NA NA 0.940961554794055 0.769662667101884 -0.0909615547940553 NA NA NA FALSE 1 6.331 NA NA NA COL5A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:9989134 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 missense_variant 6.061004 0.98842 0.98409 0.487112 0.998163539666675 0 7.11903366992312e-07 FALSE 2.03056e-05 ENSE00000576053_010 ENSE00000576053 010 19 10099747 10099916 - 53 54 63 G A 10099811 826 106 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTTGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989134 9989135 9989135 exon -12 0.796296296296296 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTTGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 70 832 0.741780841758399 0.86462422312497 0.803202532441684 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.0130267921059649 0.0540529385736352 0.940961554794055 0.769662667101884 NA 0.0335398653398001 NA FALSE NA 1 5.021 . missense_variant MODERATE COL5A3 HGNC 14864 ENST00000264828 27/67 rs541298042 1 unknown(0) NA CGA G 3.295e-05 19:9989135 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 missense_variant 5.861332 0.97793 0.95848 0.487112 0.999238702989854 0 7.11903366992312e-07 FALSE 6.09177e-05 ENSE00000576053_011 ENSE00000576053 011 19 10099747 10099916 - 53 54 63 G A 10099828 827 89 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCTGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989151 9989152 9989152 exon 26 0.481481481481481 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCTGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant 37 53 0.85 0.85 0.85 1081 747 0.800241405220568 0.806919462745857 0.803580433983213 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 -0.113274535231128 -0.0686485743569825 0.0714873555681343 -0.00365182180547763 0.940961554794055 0.769662667101884 -0.0909615547940553 0.0339177668813284 0.124879321675384 FALSE FALSE 0 0.723 rs149363106 missense_variant MODERATE COL5A3 HGNC 14864 ENST00000264828 27/67 rs149363106 1 unknown(0) NA A:0.0009 A:0.0001 CGG G 3.295e-05 19:9989152 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 missense_variant 1.017826 0.17009 0.02854 0.487112 0.256841973278339 0 7.11903366992312e-07 FALSE 3.2487e-05 ENSE00000576053_012 ENSE00000576053 012 19 10099747 10099916 - 53 54 63 G A 10099829 828 88 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTTCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989152 9989153 9989153 exon 25 0.462962962962963 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTTCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 728 771 0.838943843174714 0.965465913778426 0.90220487847657 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.110189793522281 0.154894629227091 0.940961554794055 0.769662667101884 NA 0.132542211374686 NA FALSE NA 0 0.598 . missense_variant MODERATE COL5A3 HGNC 14864 ENST00000264828 27/67 COSM1326046 1 unknown(0) NA GGA G 8.236e-06 19:9989153 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 missense_variant -0.335059 0.18833 0.07459 0.487112 0.51896743829083 0 7.11903366992312e-07 FALSE 4.06088e-06 ENSE00000576053_013 ENSE00000576053 013 19 10099747 10099916 - 53 54 63 G A 10099840 829 77 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTTGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989163 9989164 9989164 exon 14 0.259259259259259 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTTGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 136 70 0.810611228165394 0.981152587041619 0.895881907603506 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.08185717851296 0.170581302490284 0.940961554794055 0.769662667101884 NA 0.126219240501622 NA FALSE NA 0.393 4.935 rs139738587 missense_variant MODERATE COL5A3 HGNC 14864 ENST00000264828 27/67 rs139738587 1 unknown(0) NA A:0 A:0.0001 CGA G 8.236e-05 19:9989164 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 missense_variant 2.535306 0.44377 0.83458 0.487112 0.996815034938572 0 7.11903366992312e-07 FALSE 5.68528e-05 ENSE00000576053_016 ENSE00000576053 016 19 10099747 10099916 - 53 54 63 A G 10099851 832 66 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGCCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989174 9989175 9989175 exon 3 0.0555555555555556 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGCCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant 20 26 0.85 0.85 0.85 NA NA NA NA NA 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 -0.113274535231128 -0.0686485743569826 NA NA 0.940961554794055 0.769662667101884 -0.0909615547940554 NA NA NA FALSE 0.991 -0.205 . splice_region_variant&synonymous_variant LOW COL5A3 HGNC 14864 ENST00000264828 27/67 rs540795594 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GAC A 8.236e-06 19:9989175 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 splice_region_variant 0.309542 0.92683 0.40436 0.487112 0.457019017903254 0 7.11903366992312e-07 FALSE 4.06081e-06 ENSE00000576053_017 ENSE00000576053 017 19 10099747 10099916 - 53 54 63 G A 10099861 833 56 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTTCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989184 9989185 9989185 upstr_intron -8 -0.111111111111111 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTTCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 491 761 0.999327540013234 1 0.999663770006617 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.270573490360801 0.189428715448665 0.940961554794055 0.769662667101884 NA 0.230001102904733 NA FALSE NA 0.038 0.712 . splice_region_variant&intron_variant LOW COL5A3 HGNC 14864 ENST00000264828 26/66 rs559146365 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGA G 8.236e-06 19:9989185 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 splice_region_variant -0.154252 0.18538 0.05134 0.084033 0.417789178919329 0.146949 7.11903366992312e-07 FALSE 4.06095e-06 ENSE00000576053_018 ENSE00000576053 018 19 10099747 10099916 - 53 54 63 A T 10099864 834 53 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATATTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989187 9989188 9989188 upstr_intron -11 -0.158730158730159 ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATATTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 1119 369 0.800233209601821 0.801368887229821 0.800801048415821 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.0714791599493878 -0.00920239732151429 0.940961554794055 0.769662667101884 NA 0.0311383813139368 NA FALSE NA 0.804 0.405 . intron_variant MODIFIER COL5A3 HGNC 14864 ENST00000264828 26/66 1 NA AAA A 1.647e-05 19:9989188 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant -0.286293 0.19352 0.07105 0.084033 0.631603591571376 0.149986 7.11903366992312e-07 FALSE 1.21824e-05 ENSE00000576053_019 ENSE00000576053 019 19 10099747 10099916 - 53 54 63 T C 10099890 835 27 ATGAGGGCTCTTAGAATGTGGAAGGGGCTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989213 9989214 9989214 upstr_intron -37 -0.571428571428571 ATGAGGGCTCTTAGAATGTGGAAGGGGCTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 348 400 0.990779150654662 0.967736919352431 0.979258035003546 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.262025101002228 0.157165634801096 0.940961554794055 0.769662667101884 NA 0.209595367901662 NA FALSE NA 0 0.717 . intron_variant MODIFIER COL5A3 HGNC 14864 ENST00000264828 26/66 rs372988332 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 GTC T 5.765e-05 19:9989214 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant 0.046838 0.14252 0.04685 0.084033 0.494450564584677 0.0448725 7.11903366992312e-07 FALSE 2.4369e-05 ENSE00000576053_020 ENSE00000576053 020 19 10099747 10099916 - 53 54 63 C A 10099891 836 26 ATGAGGGCTCTTAGAATGTGGAAGGTACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989214 9989215 9989215 upstr_intron -38 -0.587301587301587 ATGAGGGCTCTTAGAATGTGGAAGGTACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 232 296 0.981326768164046 0.992035162222565 0.986680965193306 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.252572718511612 0.18146387767123 0.940961554794055 0.769662667101884 NA 0.217018298091421 NA FALSE NA 0 -1.106 . intron_variant MODIFIER COL5A3 HGNC 14864 ENST00000264828 26/66 rs563695718 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TCC C 8.236e-06 19:9989215 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant 0.359489 0.21003 0.00724 0.084033 0.730924948464508 0.0779 7.11903366992312e-07 FALSE 4.06147e-06 ENSE00000576053_021 ENSE00000576053 021 19 10099747 10099916 - 53 54 63 C T 10099896 837 21 ATGAGGGCTCTTAGAATGTGAAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989219 9989220 9989220 upstr_intron -43 -0.666666666666667 ATGAGGGCTCTTAGAATGTGAAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 4278 1021 0.998407320561746 0.979381392244671 0.988894356403209 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.269653270909312 0.168810107693337 0.940961554794055 0.769662667101884 NA 0.219231689301324 NA FALSE NA 0 -0.246 rs73005181 intron_variant MODIFIER COL5A3 HGNC 14864 ENST00000264828 26/66 rs73005181 1 T:0.0154 T:0.0008 T:0.0317 NA T:0 T:0.0338 T:0.0204 T:0.0045 T:0.0238 TCC C 0.023 19:9989220 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant 0.231405 0.21465 0.07001 0.084033 0.530500118069275 0.0448725 7.11903366992312e-07 FALSE 0.0250337 ENSE00000576053_022 ENSE00000576053 022 19 10099747 10099916 - 53 54 63 A C 10099898 838 19 ATGAGGGCTCTTAGAATGGGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989221 9989222 9989222 upstr_intron -45 -0.698412698412698 ATGAGGGCTCTTAGAATGGGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 142 367 0.995570028128027 0.996719209888873 0.99614461900845 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.266815978475594 0.186147925337538 0.940961554794055 0.769662667101884 NA 0.226481951906566 NA FALSE NA 0 -0.162 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:9989222 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant -0.173521 0.14482 0.00168 0.084033 0.578959664585153 0.0448725 7.11903366992312e-07 FALSE 1.62466e-05 ENSE00000576053_023 ENSE00000576053 023 19 10099747 10099916 - 53 54 63 A G 10099898 839 19 ATGAGGGCTCTTAGAATGCGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989221 9989222 9989222 upstr_intron -45 -0.698412698412698 ATGAGGGCTCTTAGAATGCGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 178 153 0.957991506406612 0.961752263288237 0.959871884847424 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.229237456754178 0.151180978736902 0.940961554794055 0.769662667101884 NA 0.19020921774554 NA FALSE NA 0 -0.162 NA NA NA COL5A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA ENSG00000080573 ENSE00000576053 intron_variant 0.010409 0.14313 0.01465 0.084033 0.501784884798595 0.0448725 7.11903366992312e-07 FALSE NA ENSE00000576053_025 ENSE00000576053 025 19 10099747 10099916 - 53 54 63 T C 10099904 841 13 ATGAGGGCTCTTGGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989227 9989228 9989228 upstr_intron -51 -0.793650793650794 ATGAGGGCTCTTGGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 710 12 0.994724343455987 0.96875863714017 0.981741490298078 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.265970293803553 0.158187352588835 0.940961554794055 0.769662667101884 NA 0.212078823196194 NA FALSE NA 0 -1.28 . intron_variant MODIFIER COL5A3 HGNC 14864 ENST00000264828 26/66 rs370389815 1 C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 C:0.0002 C:0.0002 CTA T 0.0005024 19:9989228 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant -0.098721 0.13536 0.00123 0.084033 0.500597416213401 0.0448725 7.11903366992312e-07 FALSE 0.000536184 ENSE00000576053_026 ENSE00000576053 026 19 10099747 10099916 - 53 54 63 A C 10099905 842 12 ATGAGGGCTCTGAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT 9989070 9989240 9989228 9989229 9989229 upstr_intron -52 -0.80952380952381 ATGAGGGCTCTGAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT ATGAGGGCTCTTAGAATGTGGAAGGGACTGTCTAGAATGGCACTGACCTTATTTTCCTCCCAGGGTCCACCAGGGTCGGCAGGCCCTCCGGGCTATCCTGGACCTCGGGGAGTGAAGGTAGGTGATACGCTTGCAGGTATGAGTGATTTACCAGCTTTGGGTTCAGGCAT mutant NA NA NA NA NA 925 1127 0.996477220396495 0.986684700735909 0.991580960566202 0.963274535231128 0.918648574356982 0.728754049652434 0.810571284551335 NA NA 0.267723170744061 0.176113416184574 0.940961554794055 0.769662667101884 NA 0.221918293464318 NA FALSE NA 0 0.698 . intron_variant MODIFIER COL5A3 HGNC 14864 ENST00000264828 26/66 1 NA TAA A 8.236e-06 19:9989229 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000576053 intron_variant -0.239107 0.11019 0.00021 0.084033 0.43802763978016 0.0448725 7.11903366992312e-07 FALSE 4.0619e-06 ENSE00000583150_000 ENSE00000583150 000 X 21761832 21762001 - 36 87 47 NA NA NA NA NA AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTTGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 NA NA NA NA NA NA AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT natural 147 43 0.866839233666319 0.971997965872265 0.919418599769292 4590 3130 0.928113043209166 0.728665352407566 0.828389197808366 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 0 0 0 0 0.919418599769292 0.828389197808366 0 0 0 FALSE FALSE NA NA NA NA NA SMPX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMPX NA NA NA ENSG00000091482 ENSE00003605877 NA NA NA NA NA NA NA 0.593774441660937 FALSE NA ENSE00000583150_003 ENSE00000583150 003 X 21761832 21762001 - 36 87 47 A T 21761883 260 119 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGTGTACATTCTTTTCTTCTGGGGGGTTGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743764 21743765 21743765 exon -16 0.827586206896552 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACACCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 752 1601 0.999671185408594 0.922615252515396 0.961143218961995 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0715581421994281 0.193949900107831 0.919418599769292 0.828389197808366 NA 0.132754021153629 NA FALSE NA 1 0.477 rs186846362 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 rs186846362 1 T:0.0008 T:0 NA T:0 T:0 T:0 GAG A,T 8.237e-06 X:21743765 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 synonymous_variant -0.144068 0.96324 0.44401 0 0.714268415288933 0 0.593774441660937 FALSE 5.60582e-06 ENSE00000583150_004 ENSE00000583150 004 X 21761832 21762001 - 36 87 47 A G 21761888 261 114 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACGTTCTTTTCTTCTGGGGGGTTGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743769 21743770 21743770 exon -21 0.770114942528736 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAACGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 71 351 0.999418928706631 1 0.999709464353315 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0713058854974649 0.271334647592434 0.919418599769292 0.828389197808366 NA 0.17132026654495 NA FALSE NA 0.886 0.333 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 1 NA CAT A,G 3.295e-05 X:21743770 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 missense_variant 1.309522 0.96506 0.44895 0 0.869787653247491 0 0.593774441660937 FALSE 4.48463e-05 ENSE00000583150_005 ENSE00000583150 005 X 21761832 21762001 - 36 87 47 G C 21761901 262 101 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTCGGGGGTTGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743782 21743783 21743783 exon -34 0.620689655172414 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCGAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 467 911 1 0.99783025823957 0.998915129119785 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0718869567908343 0.269164905832004 0.919418599769292 0.828389197808366 NA 0.170525931311419 NA FALSE NA 0.132 -0.801 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 rs372547272&rs398122930 1 NA C:0.0003 C:0 TGG G,C 1.647e-05 X:21743783 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 synonymous_variant 0.281684 0.93267 0.12542 0 0.625300374271593 0 0.593774441660937 FALSE NA ENSE00000583150_006 ENSE00000583150 006 X 21761832 21762001 - 36 87 47 G A 21761903 263 99 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGAGGGTTGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743784 21743785 21743785 exon -36 0.597701149425287 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCTCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 170 703 0.988485062822696 1 0.994242531411348 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0603720196135301 0.271334647592434 0.919418599769292 0.828389197808366 NA 0.165853333602982 NA FALSE NA 1 4.98 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 COSM3560385 1 NA GGG G,A 4.942e-05 X:21743785 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 missense_variant 4.099311 0.98532 0.8994 0 0.995767201144351 0 0.593774441660937 FALSE 1.6818e-05 ENSE00000583150_007 ENSE00000583150 007 X 21761832 21762001 - 36 87 47 T A 21761908 264 94 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTAGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743789 21743790 21743790 exon -41 0.540229885057471 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCTACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 857 739 0.99551504298091 0.904276319946132 0.949895681463521 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0674019997717442 0.175610967538566 0.919418599769292 0.828389197808366 NA 0.121506483655155 NA FALSE NA 1 3.83 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 1 NA TTG T,A 8.236e-06 X:21743790 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 missense_variant 3.98748 0.98167 0.83666 0 0.993779256980789 0 0.593774441660937 FALSE 5.6062e-06 ENSE00000583150_008 ENSE00000583150 008 X 21761832 21762001 - 36 87 47 G C 21761909 265 93 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTTCACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743790 21743791 21743791 exon -42 0.528735632183908 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTGAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 75 2486 1 0.998547896289456 0.999273948144728 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0718869567908343 0.269882543881891 0.919418599769292 0.828389197808366 NA 0.170884750336363 NA FALSE NA 1 6.813 rs150700337 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 rs150700337 1 NA C:0.001 C:0 TGA G,C 3.295e-05 X:21743791 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 missense_variant 3.869123 0.9921 0.96881 0 0.988594643723927 0 0.593774441660937 FALSE 3.36357e-05 ENSE00000583150_009 ENSE00000583150 009 X 21761832 21762001 - 36 87 47 C T 21761915 266 87 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTTGACCTGTTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743796 21743797 21743797 exon 40 0.459770114942529 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAACAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 1061 555 1 1 1 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0718869567908343 0.271334647592434 0.919418599769292 0.828389197808366 NA 0.171610802191634 NA FALSE NA 1 5.449 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 1 NA GCT C,T 1.647e-05 X:21743797 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 missense_variant 6.749401 0.99155 0.93932 0 0.999150456774905 0 0.593774441660937 FALSE 5.60617e-06 ENSE00000583150_010 ENSE00000583150 010 X 21761832 21762001 - 36 87 47 G A 21761924 267 78 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTTGACCTGCTCCTGGCCAAAAGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743805 21743806 21743806 exon 31 0.35632183908046 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTTGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 646 1249 0.961138567220726 0.999969524476634 0.98055404584868 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0330255240115608 0.271304172069068 0.919418599769292 0.828389197808366 NA 0.152164848040315 NA FALSE NA 1 3.095 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 1 NA CGA G,A 1.647e-05 X:21743806 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 missense_variant 6.692509 0.97747 0.85637 0 0.99886675046791 0 0.593774441660937 FALSE NA ENSE00000583150_011 ENSE00000583150 011 X 21761832 21762001 - 36 87 47 A T 21761927 268 75 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTTGACCTGCTCCTGGCCGAATGGCTCCCATTGGAATATTGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743808 21743809 21743809 exon 28 0.32183908045977 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCATTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 380 553 0.994456029957712 1 0.997228014978856 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.066342986748546 0.271334647592434 0.919418599769292 0.828389197808366 NA 0.16883881717049 NA FALSE NA 1 3.888 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 rs369871483 1 NA T:0 T:0.0001 AAG A,T 8.237e-06 X:21743809 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 missense_variant 3.746238 0.97908 0.862 0 0.98592778882148 0 0.593774441660937 FALSE 5.60849e-06 ENSE00000583150_012 ENSE00000583150 012 X 21761832 21762001 - 36 87 47 T C 21761945 269 57 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTTGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATCGATATTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743826 21743827 21743827 exon 10 0.114942528735632 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCGATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 316 85 0.99065497730943 0.997729470368843 0.994192223839137 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0625419341002641 0.269064117961278 0.919418599769292 0.828389197808366 NA 0.165803026030771 NA FALSE NA 1 5.6 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 1 NA TTG T,C 0.0001483 X:21743827 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 missense_variant 5.690982 0.98914 0.93396 0 0.998073603140683 0 0.593774441660937 FALSE 0.000174062 ENSE00000583150_013 ENSE00000583150 013 X 21761832 21762001 - 36 87 47 A G 21761949 270 53 AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCACCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTTGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATGTTTGCCTAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 21743830 21743831 21743831 exon 6 0.0689655172413793 AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAACATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT mutant NA NA NA NA NA 91 276 1 1 1 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 NA NA 0.0718869567908343 0.271334647592434 0.919418599769292 0.828389197808366 NA 0.171610802191634 NA FALSE NA 1 1.695 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMPX HGNC 11122 ENST00000494525 3/6 rs373167796 1 NA G:0 G:0.0001 TAT A,G 8.237e-06 X:21743831 SMPX HGNC Symbol protein_coding 52191 ENSG00000091482 ENSE00003605877 synonymous_variant -0.397051 0.96943 0.77214 0 0.644432070081203 0 0.593774441660937 FALSE 5.61675e-06 ENSE00000583150_BRK ENSE00000583150 BRK X 21761832 21762001 - 36 87 47 A,G; T,T NA NA NA AACATTGCTGTGTTCTGAGAGCTGAGTTTTCCTCGGCTCCTCCACTTCAGGAGTACATTCTTTTCTTCTGGGGGGTTGACCTGCTCCTGGCCGAAAGGCTCCCATTGGAATATTGATATTTGCAAAAAAGAGAAAACAGGGTAGGTTTAGCTCAAAAAAAGTAAGAAATT 21743713 21743883 NA NA NA NA NA NA AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTTTGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGCCGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT AATTTCTTACTTTTTTTGAGCTAAACCTACCCTGTTTTCTCTTTTAGGCAAATATCAATATTCCAATGGGAGCCTTTCGGCCAGGAGCAGGTCAACCCCCCAGAAGAAAAGAATGTACTCCTGAAGTGGAGGAGGTGAGGAAAACTCAGCTCTCAGAACACAGCAATGTT control 140 151 0 0.00431266379685903 0.00215633189842951 633 1005 0.127878260345551 0.106356304927927 0.117117282636739 0.866839233666319 0.971997965872265 0.928113043209166 0.728665352407566 -0.866839233666319 -0.967685302075406 -0.800234782863614 -0.622309047479639 0.919418599769292 0.828389197808366 -0.917262267870863 -0.711271915171626 0.205990352699236 TRUE TRUE NA NA NA NA NA SMPX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMPX NA NA NA ENSG00000091482 ENSE00003605877 NA NA NA NA NA NA NA 0.593774441660937 FALSE NA ENSE00000648350_000 ENSE00000648350 000 19 17339002 17339171 + 63 54 53 NA NA NA NA NA GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC 17228192 17228362 NA NA NA NA NA NA GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC natural NA NA NA NA NA 1702 1974 0.79946355290067 0.943536469684279 0.871500011292474 NA NA 0.79946355290067 0.943536469684279 NA NA 0 0 NA 0.871500011292474 NA 0 NA FALSE NA NA NA NA NA NA OCEL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OCEL1 NA NA NA ENSG00000099330 ENSE00003646568 NA NA NA NA NA NA NA 0.00014470501488926 FALSE NA ENSE00000648350_003 ENSE00000648350 003 19 17339002 17339171 + 63 54 53 A C 17339063 1615 62 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCCGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC 17228192 17228362 17228253 17228254 17228254 upstr_intron -2 -0.0158730158730159 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCCGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC mutant NA NA NA NA NA 69 1007 0 0.00159212755054889 0.000796063775274446 NA NA 0.79946355290067 0.943536469684279 NA NA -0.79946355290067 -0.94194434213373 NA 0.871500011292474 NA -0.8707039475172 NA TRUE NA 0.995 4.167 . upstream_gene_variant MODIFIER OCEL1 HGNC 26221 ENST00000600826 1 NA CAG A,C 8.237e-06 19:17228254 OCEL1 HGNC Symbol protein_coding 3015 ENSG00000099330 ENSE00003646568 splice_acceptor_variant 2.915914 0.94498 0.95207 0.660377 0.943930819884673 0 0.00014470501488926 FALSE 4.06091e-06 ENSE00000648350_004 ENSE00000648350 004 19 17339002 17339171 + 63 54 53 G A 17339070 1616 69 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAAGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC 17228192 17228362 17228260 17228261 17228261 exon 6 0.111111111111111 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAAGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC mutant NA NA NA NA NA 316 855 0.991228123861329 0.999687814574011 0.99545796921767 NA NA 0.79946355290067 0.943536469684279 NA NA 0.191764570960659 0.0561513448897325 NA 0.871500011292474 NA 0.123957957925196 NA FALSE NA 1 0.475 rs141402388 synonymous_variant LOW OCEL1 HGNC 26221 ENST00000600826 1/3 rs141402388 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0036 A:0 AGG G,A 0.0002553 19:17228261 OCEL1 HGNC Symbol protein_coding 3015 ENSG00000099330 ENSE00003646568 missense_variant 0.659404 0.92214 0.40272 0.634777 0.714314929438607 0 0.00014470501488926 FALSE 0.000194925 ENSE00000648350_010 ENSE00000648350 010 19 17339002 17339171 + 63 54 53 C T 17339086 1622 85 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCTGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC 17228192 17228362 17228276 17228277 17228277 exon 22 0.407407407407407 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCTGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC mutant NA NA NA NA NA 1547 294 0.978441805219463 1 0.989220902609732 NA NA 0.79946355290067 0.943536469684279 NA NA 0.178978252318793 0.0564635303157213 NA 0.871500011292474 NA 0.117720891317257 NA FALSE NA 0.014 0.346 . missense_variant MODERATE OCEL1 HGNC 26221 ENST00000600826 1/3 1 deleterious_low_confidence(0) unknown(0) NA CCG C,T 1.647e-05 19:17228277 OCEL1 HGNC Symbol protein_coding 3015 ENSG00000099330 ENSE00003646568 missense_variant 5.661209 0.29006 0.09125 0.634777 0.993137143637828 0 0.00014470501488926 FALSE 2.84262e-05 ENSE00000648350_015 ENSE00000648350 015 19 17339002 17339171 + 63 54 53 G A 17339100 1627 99 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAATTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC 17228192 17228362 17228290 17228291 17228291 exon -19 0.666666666666667 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAATTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC mutant NA NA NA NA NA 95 106 1 1 1 NA NA 0.79946355290067 0.943536469684279 NA NA 0.20053644709933 0.0564635303157213 NA 0.871500011292474 NA 0.128499988707526 NA FALSE NA 0.994 1.336 . synonymous_variant LOW OCEL1 HGNC 26221 ENST00000600826 1/3 1 NA AGT G,A 8.236e-06 19:17228291 OCEL1 HGNC Symbol protein_coding 3015 ENSG00000099330 ENSE00003646568 missense_variant 0.313942 0.94206 0.19861 0.634777 0.659104967953878 0 0.00014470501488926 FALSE 4.06075e-06 ENSE00000648350_018 ENSE00000648350 018 19 17339002 17339171 + 63 54 53 G A 17339114 1630 113 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCAAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC 17228192 17228362 17228304 17228305 17228305 exon -5 0.925925925925926 GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCAAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC GTTTCTTCATCCCTTCTTGAATTCAACTCTCCCTAAACCCCCTTTCTACTCCTCCCCTTGCAGAAGGAGGCCCAAGTTGCAGCCCGGGTTTGGAGGGAGTTTGAGATGAAGCGAATGGTGAGTCTTGCATCCCACAGCTTGGTCTTGCACCCCTGAGACTTCTGTGAGGC mutant NA NA NA NA NA 1057 149 1 0.998937087352482 0.999468543676241 NA NA 0.79946355290067 0.943536469684279 NA NA 0.20053644709933 0.0554006176682036 NA 0.871500011292474 NA 0.127968532383767 NA FALSE NA 0.015 -0.19 . missense_variant MODERATE OCEL1 HGNC 26221 ENST00000600826 1/3 rs373463724 1 tolerated_low_confidence(0.26) unknown(0) NA A:0.0002 A:0 CGA G,A 9.884e-05 19:17228305 OCEL1 HGNC Symbol protein_coding 3015 ENSG00000099330 ENSE00003646568 missense_variant -0.580702 0.1192 0.00185 0.634777 0.481752536745025 0 0.00014470501488926 FALSE 8.12209e-05 ENSE00000650335_000 ENSE00000650335 000 22 18082748 18082917 - 45 69 56 NA NA NA NA NA GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 NA NA NA NA NA NA GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC natural NA NA NA NA NA 2978 2571 0.942416696201409 0.744142683174827 0.843279689688118 NA NA 0.942416696201409 0.744142683174827 NA NA 0 0 NA 0.843279689688118 NA 0 NA FALSE NA NA NA NA NA NA ATP6V1E1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP6V1E1 NA NA NA ENSG00000131100 ENSE00003503886 NA NA NA NA NA NA NA 0.882471622602822 FALSE NA ENSE00000650335_001 ENSE00000650335 001 22 18082748 18082917 - 45 69 56 G A 18082758 1 160 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCTTCCCCCCTCC 17599981 17600151 17599991 17599992 17599992 downstr_intron 35 1.79545454545455 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCTTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 621 3854 0.996713128115108 0.965704333238332 0.98120873067672 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0542964319136995 0.221561650063505 NA 0.843279689688118 NA 0.137929040988602 NA FALSE NA 0.001 -0.499 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA AGG G,A 8.244e-06 22:17599992 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant 0.955407 0.13861 0.0031 0.295142 0.907609386822603 0.080701 0.882471622602822 FALSE 4.17035e-06 ENSE00000650335_002 ENSE00000650335 002 22 18082748 18082917 - 45 69 56 G C 18082760 2 158 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTGCCTCCCCCCTCC 17599981 17600151 17599993 17599994 17599994 downstr_intron 33 1.75 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTGCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 347 49 1 0.95 0.975 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0575833037985911 0.205857316825173 NA 0.843279689688118 NA 0.131720310311882 NA FALSE NA 0.004 1.633 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA GGA G,C 1.648e-05 22:17599994 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant 0.589521 0.13443 0.03624 0.295142 0.88438396109997 0.046875 0.882471622602822 FALSE 8.25559e-06 ENSE00000650335_003 ENSE00000650335 003 22 18082748 18082917 - 45 69 56 A T 18082772 3 146 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTATTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600005 17600006 17600006 downstr_intron 21 1.47727272727273 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTATTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 496 134 0.991790301812644 0.98534022374911 0.988565262780877 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0493736056112356 0.241197540574283 NA 0.843279689688118 NA 0.145285573092759 NA FALSE NA 0.016 0.815 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 rs372782285 1 NA T:0 T:0.0001 AAA A,T 8.237e-06 22:17600006 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant 0.785523 0.11279 0.03187 0.295142 0.924867493600279 0.0476178 0.882471622602822 FALSE 8.1487e-06 ENSE00000650335_006 ENSE00000650335 006 22 18082748 18082917 - 45 69 56 C T 18082793 6 125 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAAGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600026 17600027 17600027 exon -1 1 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAAGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 93 2089 1 0.994135725264771 0.997067862632386 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0575833037985911 0.249993042089944 NA 0.843279689688118 NA 0.153788172944268 NA FALSE NA 1 3.812 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 rs200504228 1 NA CCT C,T 5.765e-05 22:17600027 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 splice_region_variant 2.032498 0.97877 0.91538 0.732398 0.854311739393153 0 0.882471622602822 FALSE 0.000101605 ENSE00000650335_007 ENSE00000650335 007 22 18082748 18082917 - 45 69 56 G A 18082803 7 115 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCTTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600036 17600037 17600037 exon -11 0.855072463768116 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCTTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 85 89 0.98776923271702 0.940583065218426 0.964176148967723 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0453525365156113 0.196440382043599 NA 0.843279689688118 NA 0.120896459279605 NA FALSE NA 1 4.891 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA AGG G,A 8.236e-06 22:17600037 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 missense_variant 3.008905 0.97859 0.94663 0.732398 0.935893232374437 0 0.882471622602822 FALSE 4.06306e-06 ENSE00000650335_008 ENSE00000650335 008 22 18082748 18082917 - 45 69 56 T C 18082812 8 106 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACGAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600045 17600046 17600046 exon -20 0.72463768115942 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACGAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 159 170 0.987224929246939 0.966201038232783 0.976712983739861 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0448082330455304 0.222058355057956 NA 0.843279689688118 NA 0.133433294051743 NA FALSE NA 1 4.988 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA TTG T,C 8.236e-06 22:17600046 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 missense_variant 1.435638 0.96839 0.93882 0.732398 0.864543863409545 0 0.882471622602822 FALSE 4.0624e-06 ENSE00000650335_009 ENSE00000650335 009 22 18082748 18082917 - 45 69 56 T G 18082816 9 102 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGCAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600049 17600050 17600050 exon -24 0.666666666666667 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGCAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 488 356 1 1 1 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0575833037985911 0.255857316825173 NA 0.843279689688118 NA 0.156720310311882 NA FALSE NA 1 3.886 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 rs201028167 1 NA TTC T,G 5.765e-05 22:17600050 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 missense_variant 1.704592 0.96581 0.91262 0.732398 0.749395732457569 0 0.882471622602822 FALSE 0.00010562 ENSE00000650335_010 ENSE00000650335 010 22 18082748 18082917 - 45 69 56 A G 18082823 10 95 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGCTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600056 17600057 17600057 exon -31 0.565217391304348 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGCTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 935 649 1 0.998937460423033 0.999468730211516 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0575833037985911 0.254794777248206 NA 0.843279689688118 NA 0.156189040523398 NA FALSE NA 0.255 -0.41 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA AAC A,G 1.647e-05 22:17600057 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 synonymous_variant 1.014575 0.92465 0.1172 0.732398 0.676898086794156 0 0.882471622602822 FALSE 2.43708e-05 ENSE00000650335_012 ENSE00000650335 012 22 18082748 18082917 - 45 69 56 G A 18082825 12 93 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTTGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600058 17600059 17600059 exon -33 0.536231884057971 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTTGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 897 350 0.999171239732214 0.974934030303236 0.987052635017725 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0567545435308047 0.230791347128408 NA 0.843279689688118 NA 0.143772945329607 NA FALSE NA 1 5.19 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 COSM1031871 1 NA CGA G,A 3.295e-05 22:17600059 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 missense_variant 4.317311 0.96088 0.92127 0.732398 0.967208792644767 0 0.882471622602822 FALSE 4.06171e-05 ENSE00000650335_013 ENSE00000650335 013 22 18082748 18082917 - 45 69 56 C T 18082836 13 82 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCAAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600069 17600070 17600070 exon 26 0.376811594202899 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCAAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 654 174 1 0.976333319813837 0.988166659906919 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0575833037985911 0.23219063663901 NA 0.843279689688118 NA 0.1448869702188 NA FALSE NA 0.527 0.873 rs144829775 upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 rs144829775&COSM1031872 1 T:0.0004 T:0.0008 T:0 NA T:0 T:0 T:0.001 T:0.0002 T:0 TCG C,T 0.0001318 22:17600070 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 missense_variant 3.140675 0.96517 0.46759 0.732398 0.989479157877857 0 0.882471622602822 FALSE 0.00011779 ENSE00000650335_014 ENSE00000650335 014 22 18082748 18082917 - 45 69 56 G A 18082838 14 80 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCTCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600071 17600072 17600072 exon 24 0.347826086956522 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCTCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 630 637 0.996229833022976 1 0.998114916511488 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0538131368215672 0.255857316825173 NA 0.843279689688118 NA 0.15483522682337 NA FALSE NA 0.963 0.166 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA GGG G,A 6.589e-05 22:17600072 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 synonymous_variant 0.744845 0.95287 0.65871 0.732398 0.520669525839762 0 0.882471622602822 FALSE 5.68625e-05 ENSE00000650335_015 ENSE00000650335 015 22 18082748 18082917 - 45 69 56 G C 18082846 15 72 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGGTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600079 17600080 17600080 exon 16 0.231884057971014 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGGTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 449 47 0.995270332936393 0.958757615602363 0.977013974269378 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0528536367349846 0.214614932427536 NA 0.843279689688118 NA 0.13373428458126 NA FALSE NA 1 1.112 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 rs201700749 1 NA AGC G,C 0.000173 22:17600080 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 missense_variant 4.370362 0.95648 0.8944 0.732398 0.995191201363965 0 0.882471622602822 FALSE 0.00013809 ENSE00000650335_018 ENSE00000650335 018 22 18082748 18082917 - 45 69 56 T C 18082875 18 43 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTGCTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600108 17600109 17600109 upstr_intron -14 -0.232142857142857 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTGCTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 333 997 0.998256866673097 0.989905528278846 0.994081197475972 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0558401704716885 0.245762845104019 NA 0.843279689688118 NA 0.150801507787854 NA FALSE NA 0 -2.108 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA GTA T,C 8.237e-06 22:17600109 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant -0.053533 0.07751 0.00715 0.106106 0.498682117558224 0.088125 0.882471622602822 FALSE 4.06316e-06 ENSE00000650335_019 ENSE00000650335 019 22 18082748 18082917 - 45 69 56 A C 18082878 19 40 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTAGCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600111 17600112 17600112 upstr_intron -17 -0.285714285714286 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTAGCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 271 1528 1 0.994246777888047 0.997123388944024 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0575833037985911 0.25010409471322 NA 0.843279689688118 NA 0.153843699255906 NA FALSE NA 0 2.204 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA GAT A,C 8.237e-06 22:17600112 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant -0.385979 0.1499 0.13261 0.106106 0.452122344543105 0.088125 0.882471622602822 FALSE 4.06415e-06 ENSE00000650335_020 ENSE00000650335 020 22 18082748 18082917 - 45 69 56 A G 18082880 20 38 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGCATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600113 17600114 17600114 upstr_intron -19 -0.321428571428571 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGCATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 1242 481 0.832266875836183 0.993372497890835 0.912819686863509 NA NA 0.942416696201409 0.744142683174827 NA NA -0.110149820365226 0.249229814716008 NA 0.843279689688118 NA 0.069539997175391 NA FALSE NA 0 0.076 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA TAC A,G 8.237e-06 22:17600114 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant -0.235763 0.10622 0.00936 0.106106 0.377989457336817 0.088125 0.882471622602822 FALSE 4.06392e-06 ENSE00000650335_021 ENSE00000650335 021 22 18082748 18082917 - 45 69 56 T A 18082884 21 34 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGTCTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600117 17600118 17600118 upstr_intron -23 -0.392857142857143 GTTTCTTTATTTTATAGTTTGCATTTTCTACTGTCTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 894 75 1 0.980533012984363 0.990266506492181 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0575833037985911 0.236390329809536 NA 0.843279689688118 NA 0.146986816804063 NA FALSE NA 0 0.215 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA GTC T,A 1.647e-05 22:17600118 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant 0.498345 0.162 0.0976 0.106106 0.573138505581088 0.088125 0.882471622602822 FALSE 2.033e-05 ENSE00000650335_022 ENSE00000650335 022 22 18082748 18082917 - 45 69 56 T C 18082888 22 30 GTTTCTTTATTTTATAGTTTGCATTTTCTGCTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600121 17600122 17600122 upstr_intron -27 -0.464285714285714 GTTTCTTTATTTTATAGTTTGCATTTTCTGCTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 1407 1369 0.997823757163562 0.998147093827429 0.997985425495495 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0554070609621528 0.254004410652602 NA 0.843279689688118 NA 0.154705735807377 NA FALSE NA 0 -5.483 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 1 NA GTA T,C 1.647e-05 22:17600122 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant 0.315291 0.11129 0.00488 0.106106 0.566706301078677 0.088125 0.882471622602822 FALSE 8.13544e-06 ENSE00000650335_023 ENSE00000650335 023 22 18082748 18082917 - 45 69 56 C A 18082897 23 21 GTTTCTTTATTTTATAGTTTTCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600130 17600131 17600131 upstr_intron -36 -0.625 GTTTCTTTATTTTATAGTTTTCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 269 77 0.973761405744683 0.885186324300284 0.929473865022483 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0313447095432744 0.141043641125456 NA 0.843279689688118 NA 0.0861941753343654 NA FALSE NA 0 -0.564 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 rs201514089 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0005 A:0.0006 GCA C,A 0.0006013 22:17600131 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant 0.302645 0.13536 0.01508 0.156188 0.795737870189462 0.088125 0.882471622602822 FALSE 0.000456271 ENSE00000650335_024 ENSE00000650335 024 22 18082748 18082917 - 45 69 56 A C 18082898 24 20 GTTTCTTTATTTTATAGTTGGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600131 17600132 17600132 upstr_intron -37 -0.642857142857143 GTTTCTTTATTTTATAGTTGGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 1369 114 0.999064366189335 0.972155711188692 0.985610038689014 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0566476699879266 0.228013028013865 NA 0.843279689688118 NA 0.142330349000896 NA FALSE NA 0 0.147 rs187404229 upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 rs187404229 1 C:0.0010 C:0 C:0 NA C:0 C:0.005 C:0 C:0.0002 C:0.0066 CAA A,C 0.004267 22:17600132 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant 0.079853 0.16219 0.02336 0.156188 0.683768825779688 0.088125 0.882471622602822 FALSE 0.00399541 ENSE00000650335_025 ENSE00000650335 025 22 18082748 18082917 - 45 69 56 C A 18082901 25 17 GTTTCTTTATTTTATATTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 17600134 17600135 17600135 upstr_intron -40 -0.696428571428571 GTTTCTTTATTTTATATTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC mutant NA NA NA NA NA 124 303 0.966291467030901 0.972969044127809 0.969630255579355 NA NA 0.942416696201409 0.744142683174827 NA NA 0.0238747708294916 0.228826360952982 NA 0.843279689688118 NA 0.126350565891237 NA FALSE NA 0 -0.15 . upstream_gene_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000473248 rs370896304 1 NA A:0.0002 A:0 ACT C,A 1.647e-05 22:17600135 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003503886 intron_variant 0.385604 0.13833 0.01552 0.156188 0.782693277501357 0.088125 0.882471622602822 FALSE NA ENSE00000650335_BRK ENSE00000650335 BRK 22 18082748 18082917 - 45 69 56 A,G; T,T NA NA NA GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCTTGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGCCAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC 17599981 17600151 NA NA NA NA NA NA GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCTTGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGCCAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC GTTTCTTTATTTTATAGTTTGCATTTTCTACTGACTGTATCTACTATTTCTTCCAGGGTTTGTACCAGTTGCTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGTAAAGAACTTAGGATAATTTTTTCCCTCCCTCCCTCCCCCCTCC control NA NA NA NA NA 102 713 0 0.0358596003637181 0.0179298001818591 NA NA 0.942416696201409 0.744142683174827 NA NA -0.942416696201409 -0.708283082811109 NA 0.843279689688118 NA -0.825349889506259 NA TRUE NA NA NA NA NA NA ATP6V1E1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP6V1E1 NA NA NA ENSG00000131100 ENSE00003503886 NA NA NA NA NA NA NA 0.882471622602822 FALSE NA ENSE00000650337_000 ENSE00000650337 000 22 18083823 18083992 - 35 90 45 NA NA NA NA NA TGGCTATCAACAGTAGATCTGGTCTATGAGGGTACCTGGAGAACCAGTCCATCCAGCAGCACTTGGTACCTGGTTGTATCTTTTACCACCTTGCTGAGTCTCTGTTTTGCTTCATTTAGTAGGTCCTACAAAGATTAGAAAAGATAAAAGTTATCTACACATCTGGGCAG 17601056 17601226 NA NA NA NA NA NA CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA natural NA NA NA NA NA 307 180 0.983027089039609 1 0.991513544519805 NA NA 0.983027089039609 1 NA NA 0 0 NA 0.991513544519805 NA 0 NA FALSE NA NA NA NA NA NA ATP6V1E1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP6V1E1 NA NA NA ENSG00000131100 ENSE00003646084 NA NA NA NA NA NA NA 0.882471622602822 FALSE NA ENSE00000650337_003 ENSE00000650337 003 22 18083823 18083992 - 35 90 45 T C 18083847 28 146 TGGCTATCAACAGTAGATCTGGTCCATGAGGGTACCTGGAGAACCAGTCCATCCAGCAGCACTTGGTACCTGGTTGTATCTTTTACCACCTTGCTGAGTCTCTGTTTTGCTTCATTTAGTAGGTCCTACAAAGATTAGAAAAGATAAAAGTTATCTACACATCTGGGCAG 17601056 17601226 17601080 17601081 17601081 downstr_intron 11 1.32352941176471 CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATGGACCAGATCTACTGTTGATAGCCA CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA mutant NA NA NA NA NA 19 113 1 1 1 NA NA 0.983027089039609 1 NA NA 0.0169729109603909 0 NA 0.991513544519805 NA 0.00848645548019544 NA FALSE NA 0 0.293 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000484653 4/4 rs199542694 1 NA C:0.0002 C:0.0012 CTA T,C 0.0008401 22:17601081 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003646084 non_coding_transcript_exon_variant -0.105441 0.20347 0.06757 0.099367 0.445124946023321 0.0577692 0.882471622602822 FALSE 0.000912647 ENSE00000650337_005 ENSE00000650337 005 22 18083823 18083992 - 35 90 45 T C 18083896 30 97 TGGCTATCAACAGTAGATCTGGTCTATGAGGGTACCTGGAGAACCAGTCCATCCAGCAGCACTTGGTACCTGGCTGTATCTTTTACCACCTTGCTGAGTCTCTGTTTTGCTTCATTTAGTAGGTCCTACAAAGATTAGAAAAGATAAAAGTTATCTACACATCTGGGCAG 17601056 17601226 17601129 17601130 17601130 exon -39 0.577777777777778 CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAGCCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA mutant NA NA NA NA NA 432 1083 0.999904698814595 0.913409396222953 0.956657047518774 NA NA 0.983027089039609 1 NA NA 0.0168776097749859 -0.0865906037770469 NA 0.991513544519805 NA -0.0348564970010305 NA FALSE NA 0.996 1.309 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000484653 4/4 1 NA GTT T,C 1.647e-05 22:17601130 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003646084 missense_variant 0.256913 0.882 0.21495 0.706548 0.375381908186927 0 0.882471622602822 FALSE 1.62462e-05 ENSE00000650337_008 ENSE00000650337 008 22 18083823 18083992 - 35 90 45 A G 18083907 33 86 TGGCTATCAACAGTAGATCTGGTCTATGAGGGTACCTGGAGAACCAGTCCATCCAGCAGCACTTGGTACCTGGTTGTATCTTTTGCCACCTTGCTGAGTCTCTGTTTTGCTTCATTTAGTAGGTCCTACAAAGATTAGAAAAGATAAAAGTTATCTACACATCTGGGCAG 17601056 17601226 17601140 17601141 17601141 exon 41 0.455555555555556 CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGCAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA mutant NA NA NA NA NA 187 365 0.996705716703239 0.988117191835289 0.992411454269264 NA NA 0.983027089039609 1 NA NA 0.0136786276636295 -0.0118828081647113 NA 0.991513544519805 NA 0.00089790974945908 NA FALSE NA 1 5.297 rs61738584 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000484653 4/4 rs61738584 1 NA TAC A,G 9.06e-05 22:17601141 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003646084 missense_variant 1.771331 0.90609 0.67947 0.706548 0.920219986689528 0 0.882471622602822 FALSE 7.71737e-05 ENSE00000650337_009 ENSE00000650337 009 22 18083823 18083992 - 35 90 45 C T 18083908 34 85 TGGCTATCAACAGTAGATCTGGTCTATGAGGGTACCTGGAGAACCAGTCCATCCAGCAGCACTTGGTACCTGGTTGTATCTTTTATCACCTTGCTGAGTCTCTGTTTTGCTTCATTTAGTAGGTCCTACAAAGATTAGAAAAGATAAAAGTTATCTACACATCTGGGCAG 17601056 17601226 17601141 17601142 17601142 exon 40 0.444444444444444 CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGATAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA CTGCCCAGATGTGTAGATAACTTTTATCTTTTCTAATCTTTGTAGGACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGTACCCTCATAGACCAGATCTACTGTTGATAGCCA mutant NA NA NA NA NA 29 551 0.8 1 0.9 NA NA 0.983027089039609 1 NA NA -0.183027089039609 0 NA 0.991513544519805 NA -0.0915135445198045 NA FALSE NA 1 5.841 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP6V1E1 HGNC 857 ENST00000484653 4/4 1 NA ACC C,T 1.647e-05 22:17601142 ATP6V1E1 HGNC Symbol protein_coding 36682 ENSG00000131100 ENSE00003646084 missense_variant 3.724279 0.95231 0.92664 0.706548 0.991617625334619 0 0.882471622602822 FALSE 1.21863e-05 ENSE00000650769_000 ENSE00000650769 000 22 19444054 19444223 - 56 48 66 NA NA NA NA NA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA 19456530 19456700 NA NA NA NA NA NA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA natural 20 15 0.999104773766922 0.98825287450594 0.993678824136431 815 985 0.99000510187541 0.920859631514407 0.955432366694908 0.999104773766922 0.98825287450594 0.99000510187541 0.920859631514407 0 0 0 0 0.993678824136431 0.955432366694908 0 0 0 FALSE FALSE NA NA NA NA NA UFD1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UFD1 NA NA NA ENSG00000070010 ENSE00003508606 NA NA NA NA NA NA NA NA NA NA ENSE00000650769_BRK ENSE00000650769 BRK 22 19444054 19444223 - 56 48 66 A,G; T,T NA NA NA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCTTGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCCCGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA 19456530 19456700 NA NA NA NA NA NA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCTTGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCCCGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA control 743 131 0 0 0 NA NA NA NA NA 0.999104773766922 0.98825287450594 0.99000510187541 0.920859631514407 -0.999104773766922 -0.98825287450594 NA NA 0.993678824136431 0.955432366694908 -0.993678824136431 NA NA NA TRUE NA NA NA NA NA UFD1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UFD1 NA NA NA ENSG00000070010 ENSE00003508606 NA NA NA NA NA NA NA NA NA NA ENSE00000650771_000 ENSE00000650771 000 22 19445549 19445718 - 45 69 56 NA NA NA NA NA TCCTCCCAGGGCCCAGGCTCACTGTAACTGGACAGAGCCACTCACGTTCATGTCACACTCAATGATGGACACTGCCTTGTCGGGTTTGGTCTCCATCACACGCAGTTCGTAGATCTGTGGGGCAAACACAGAAATCAGTTGGATGGTTTCCTGGCAGCACTGGAGCTGTC 19458025 19458195 NA NA NA NA NA NA GACAGCTCCAGTGCTGCCAGGAAACCATCCAACTGATTTCTGTGTTTGCCCCACAGATCTACGAACTGCGTGTGATGGAGACCAAACCCGACAAGGCAGTGTCCATCATTGAGTGTGACATGAACGTGAGTGGCTCTGTCCAGTTACAGTGAGCCTGGGCCCTGGGAGGA GACAGCTCCAGTGCTGCCAGGAAACCATCCAACTGATTTCTGTGTTTGCCCCACAGATCTACGAACTGCGTGTGATGGAGACCAAACCCGACAAGGCAGTGTCCATCATTGAGTGTGACATGAACGTGAGTGGCTCTGTCCAGTTACAGTGAGCCTGGGCCCTGGGAGGA natural 45 35 0.989652810107621 0.987900929358683 0.988776869733152 1773 792 0.779406698213309 0.777775979871199 0.778591339042254 0.989652810107621 0.987900929358683 0.779406698213309 0.777775979871199 0 0 0 0 0.988776869733152 0.778591339042254 0 0 0 FALSE FALSE NA NA NA NA NA UFD1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UFD1 NA NA NA ENSG00000070010 ENSE00003688668 NA NA NA NA NA NA NA NA NA NA ENSE00000650771_002 ENSE00000650771 002 22 19445549 19445718 - 45 69 56 C T 19445561 68 158 TCCTCCCAGGGCTCAGGCTCACTGTAACTGGACAGAGCCACTCACGTTCATGTCACACTCAATGATGGACACTGCCTTGTCGGGTTTGGTCTCCATCACACGCAGTTCGTAGATCTGTGGGGCAAACACAGAAATCAGTTGGATGGTTTCCTGGCAGCACTGGAGCTGTC 19458025 19458195 19458037 19458038 19458038 downstr_intron 33 1.75 GACAGCTCCAGTGCTGCCAGGAAACCATCCAACTGATTTCTGTGTTTGCCCCACAGATCTACGAACTGCGTGTGATGGAGACCAAACCCGACAAGGCAGTGTCCATCATTGAGTGTGACATGAACGTGAGTGGCTCTGTCCAGTTACAGTGAGCCTGAGCCCTGGGAGGA GACAGCTCCAGTGCTGCCAGGAAACCATCCAACTGATTTCTGTGTTTGCCCCACAGATCTACGAACTGCGTGTGATGGAGACCAAACCCGACAAGGCAGTGTCCATCATTGAGTGTGACATGAACGTGAGTGGCTCTGTCCAGTTACAGTGAGCCTGGGCCCTGGGAGGA mutant NA NA NA NA NA 46 105 0.992615688138806 1 0.996307844069403 0.989652810107621 0.987900929358683 0.779406698213309 0.777775979871199 NA NA 0.213208989925496 0.222224020128801 0.988776869733152 0.778591339042254 NA 0.217716505027149 NA FALSE NA 0 0.304 rs192148895 intron_variant MODIFIER UFD1L HGNC 12520 ENST00000263202 7/11 rs192148895 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 CCC C,T 0.000313 22:19458038 UFD1 HGNC Symbol protein_coding 29305 ENSG00000070010 ENSE00003688668 intron_variant 0.563766 0.20945 0.13867 0.256867 0.627896410969718 0.0536359 NA NA 0.00026843 ENSE00000650771_003 ENSE00000650771 003 22 19445549 19445718 - 45 69 56 A T 19445563 69 156 TCCTCCCAGGGCCCTGGCTCACTGTAACTGGACAGAGCCACTCACGTTCATGTCACACTCAATGATGGACACTGCCTTGTCGGGTTTGGTCTCCATCACACGCAGTTCGTAGATCTGTGGGGCAAACACAGAAATCAGTTGGATGGTTTCCTGGCAGCACTGGAGCTGTC 19458025 19458195 19458039 19458040 19458040 downstr_intron 31 1.70454545454545 GACAGCTCCAGTGCTGCCAGGAAACCATCCAACTGATTTCTGTGTTTGCCCCACAGATCTACGAACTGCGTGTGATGGAGACCAAACCCGACAAGGCAGTGTCCATCATTGAGTGTGACATGAACGTGAGTGGCTCTGTCCAGTTACAGTGAGCCAGGGCCCTGGGAGGA GACAGCTCCAGTGCTGCCAGGAAACCATCCAACTGATTTCTGTGTTTGCCCCACAGATCTACGAACTGCGTGTGATGGAGACCAAACCCGACAAGGCAGTGTCCATCATTGAGTGTGACATGAACGTGAGTGGCTCTGTCCAGTTACAGTGAGCCTGGGCCCTGGGAGGA mutant NA NA NA NA NA 158 123 0.995486187830753 1 0.997743093915377 0.989652810107621 0.987900929358683 0.779406698213309 0.777775979871199 NA NA 0.216079489617444 0.222224020128801 0.988776869733152 0.778591339042254 NA 0.219151754873123 NA FALSE NA 0 -0.104 . intron_variant MODIFIER UFD1L HGNC 12520 ENST00000263202 7/11 1 NA CAG A,T 8.236e-06 22:19458040 UFD1 HGNC Symbol protein_coding 29305 ENSG00000070010 ENSE00003688668 intron_variant 0.159284 0.22375 0.18269 0.256867 0.565417430307142 0.0536359 NA NA 4.06613e-06 ENSE00000650771_BRK ENSE00000650771 BRK 22 19445549 19445718 - 45 69 56 A,G; T,T NA NA NA TCCTCCCAGGGCCCAGGCTCACTGTAACTGGACAGAGCCACTCGGGTTCATGTCACACTCAATGATGGACACTGCCTTGTCGGGTTTGGTCTCCATCACACGCAGTTCGTAGATAAGTGGGGCAAACACAGAAATCAGTTGGATGGTTTCCTGGCAGCACTGGAGCTGTC 19458025 19458195 NA NA NA NA NA NA GACAGCTCCAGTGCTGCCAGGAAACCATCCAACTGATTTCTGTGTTTGCCCCACTTATCTACGAACTGCGTGTGATGGAGACCAAACCCGACAAGGCAGTGTCCATCATTGAGTGTGACATGAACCCGAGTGGCTCTGTCCAGTTACAGTGAGCCTGGGCCCTGGGAGGA GACAGCTCCAGTGCTGCCAGGAAACCATCCAACTGATTTCTGTGTTTGCCCCACAGATCTACGAACTGCGTGTGATGGAGACCAAACCCGACAAGGCAGTGTCCATCATTGAGTGTGACATGAACGTGAGTGGCTCTGTCCAGTTACAGTGAGCCTGGGCCCTGGGAGGA control 421 541 0.0031268584999254 0 0.0015634292499627 NA NA NA NA NA 0.989652810107621 0.987900929358683 0.779406698213309 0.777775979871199 -0.986525951607695 -0.987900929358683 NA NA 0.988776869733152 0.778591339042254 -0.987213440483189 NA NA NA TRUE NA NA NA NA NA UFD1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UFD1 NA NA NA ENSG00000070010 ENSE00003688668 NA NA NA NA NA NA NA NA NA NA ENSE00000651221_000 ENSE00000651221 000 22 23488742 23488911 + 50 81 39 NA NA NA NA NA CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 NA NA NA NA NA NA CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG natural 492 546 0.85 0.857744559091261 0.853872279545631 2306 683 0.919528761846903 0.943282406818269 0.931405584332586 0.85 0.857744559091261 0.919528761846903 0.943282406818269 0 0 0 0 0.853872279545631 0.931405584332586 0 0 0 FALSE FALSE NA NA NA NA NA RAB36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB36 NA NA NA ENSG00000100228 ENSE00000651221 NA NA NA NA NA NA NA 1.44185655300034e-05 FALSE NA ENSE00000651221_001 ENSE00000651221 001 22 23488742 23488911 + 50 81 39 C T 23488752 259 11 CAGGTATTTGTACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146564 23146565 23146565 upstr_intron -40 -0.78 CAGGTATTTGTACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 138 1161 0.981607489064365 0.992338735606822 0.986973112335593 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0620787272174625 0.0490563287885531 0.853872279545631 0.931405584332586 NA 0.0555675280030078 NA FALSE NA 0 -1.071 . intron_variant MODIFIER RAB36 HGNC 9775 ENST00000341989 1/9 1 NA GCA C,T 8.236e-06 22:23146565 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 intron_variant 0.246184 0.11729 0.00739 0.07523 0.606516079130396 0.0673188 1.44185655300034e-05 FALSE 8.31891e-06 ENSE00000651221_002 ENSE00000651221 002 22 23488742 23488911 + 50 81 39 A G 23488753 260 12 CAGGTATTTGCGCAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146565 23146566 23146566 upstr_intron -39 -0.76 CAGGTATTTGCGCAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 322 682 0.948468013638823 0.970818125333983 0.959643069486403 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0289392517919199 0.027535718515714 0.853872279545631 0.931405584332586 NA 0.028237485153817 NA FALSE NA 0 -1.478 . intron_variant MODIFIER RAB36 HGNC 9775 ENST00000341989 1/9 1 NA CAC A,G 1.647e-05 22:23146566 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 intron_variant 0.250048 0.1233 0.00614 0.07523 0.722876907193376 0.0856521 1.44185655300034e-05 FALSE 2.07517e-05 ENSE00000651221_004 ENSE00000651221 004 22 23488742 23488911 + 50 81 39 G C 23488756 262 15 CAGGTATTTGCACACCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146568 23146569 23146569 upstr_intron -36 -0.7 CAGGTATTTGCACACCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 252 445 0.986889086343424 0.991438985757151 0.989164036050288 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0673603244965217 0.0481565789388823 0.853872279545631 0.931405584332586 NA 0.057758451717702 NA FALSE NA 0 -1.135 . intron_variant MODIFIER RAB36 HGNC 9775 ENST00000341989 1/9 rs370731302 1 NA C:0.0002 C:0.0001 AGC G,C 0.000173 22:23146569 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 intron_variant -0.291094 0.12347 0.01224 0.07523 0.545123611142613 0.134643 1.44185655300034e-05 FALSE 0.000246727 ENSE00000651221_007 ENSE00000651221 007 22 23488742 23488911 + 50 81 39 C T 23488775 265 34 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTTCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146587 23146588 23146588 upstr_intron -17 -0.32 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTTCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 44 953 1 1 1 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0804712381530973 0.0567175931817314 0.853872279545631 0.931405584332586 NA 0.0685944156674144 NA FALSE NA 0 -0.803 NA NA NA RAB36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:23146588 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 intron_variant 0.221018 0.17033 0.03176 0.07523 0.719170465614081 0.0673188 1.44185655300034e-05 FALSE 1.22671e-05 ENSE00000651221_008 ENSE00000651221 008 22 23488742 23488911 + 50 81 39 G A 23488809 266 68 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGATCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146621 23146622 23146622 exon 18 0.222222222222222 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGATCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 54 460 0.964918184419494 0.995578554561064 0.980248369490279 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0453894225725915 0.0522961477427953 0.853872279545631 0.931405584332586 NA 0.0488427851576934 NA FALSE NA 0.999 1.524 . synonymous_variant LOW RAB36 HGNC 9775 ENST00000341989 2/10 1 NA GGT G,A 8.236e-06 22:23146622 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 synonymous_variant 1.327528 0.95658 0.32341 0.615465 0.770836199111088 0 1.44185655300034e-05 FALSE 8.1248e-06 ENSE00000651221_010 ENSE00000651221 010 22 23488742 23488911 + 50 81 39 T C 23488836 268 95 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCCGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146648 23146649 23146649 exon -37 0.555555555555556 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCCGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 110 102 0.981850902501023 0.998446307094354 0.990148604797688 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0623221406541199 0.0551639002760852 0.853872279545631 0.931405584332586 NA 0.0587430204651025 NA FALSE NA 0.572 -0.471 . synonymous_variant LOW RAB36 HGNC 9775 ENST00000341989 2/10 1 NA CTG T,C 8.236e-06 22:23146649 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 synonymous_variant -1.076376 0.94934 0.29825 0.625279 0.382893667662438 0 1.44185655300034e-05 FALSE 4.06131e-06 ENSE00000651221_011 ENSE00000651221 011 22 23488742 23488911 + 50 81 39 G A 23488839 269 98 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTAAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146651 23146652 23146652 exon -34 0.592592592592593 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTAAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 169 37 0.8 0.803906128303022 0.801953064151511 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA -0.119528761846903 -0.139376278515247 0.853872279545631 0.931405584332586 NA -0.129452520181075 NA FALSE NA 1 0.726 . synonymous_variant LOW RAB36 HGNC 9775 ENST00000341989 2/10 rs536299716 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGA G,A 0.00014 22:23146652 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 synonymous_variant 0.216143 0.96707 0.72792 0.625279 0.656097534909715 0 1.44185655300034e-05 FALSE 0.000105597 ENSE00000651221_012 ENSE00000651221 012 22 23488742 23488911 + 50 81 39 C G 23488842 270 101 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGGCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146654 23146655 23146655 exon -31 0.62962962962963 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGGCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 362 57 0.940699867080469 0.987001621129522 0.963850744104996 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0211711052335667 0.0437192143112536 0.853872279545631 0.931405584332586 NA 0.0324451597724101 NA FALSE NA 0.999 0.524 . missense_variant MODERATE RAB36 HGNC 9775 ENST00000341989 2/10 rs546439416 1 tolerated(0.45) probably_damaging(0.978) G:0.0022 G:0 G:0 NA G:0 G:0 G:0.0112 GCC C,G 9.884e-05 22:23146655 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 missense_variant 2.428489 0.9649 0.79605 0.625279 0.979621706703589 0 1.44185655300034e-05 FALSE 7.71724e-05 ENSE00000651221_013 ENSE00000651221 013 22 23488742 23488911 + 50 81 39 C T 23488843 271 102 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCTGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146655 23146656 23146656 exon -30 0.641975308641975 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCTGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 139 26 0.952562546380603 0.95 0.951281273190301 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0330337845337002 0.00671759318173137 0.853872279545631 0.931405584332586 NA 0.0198756888577158 NA FALSE NA 1 1.291 rs144444349 missense_variant MODERATE RAB36 HGNC 9775 ENST00000341989 2/10 rs144444349 1 deleterious(0) probably_damaging(0.969) NA T:0.0002 T:0 CCG C,T 8.236e-06 22:23146656 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 missense_variant 6.14632 0.97329 0.87987 0.625279 0.999149068326214 0 1.44185655300034e-05 FALSE 8.12321e-06 ENSE00000651221_014 ENSE00000651221 014 22 23488742 23488911 + 50 81 39 G A 23488844 272 103 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCACGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146656 23146657 23146657 exon -29 0.654320987654321 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCACGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 452 586 0.795872498089525 0.823549407654162 0.809710952871844 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA -0.123656263757378 -0.119732999164106 0.853872279545631 0.931405584332586 NA -0.121694631460742 NA FALSE NA 1 0.796 . missense_variant MODERATE RAB36 HGNC 9775 ENST00000341989 2/10 1 deleterious(0) probably_damaging(0.954) NA CGC G,A 8.236e-06 22:23146657 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 missense_variant 5.105441 0.95616 0.63251 0.625279 0.999234682580775 0 1.44185655300034e-05 FALSE 1.62472e-05 ENSE00000651221_015 ENSE00000651221 015 22 23488742 23488911 + 50 81 39 C T 23488845 273 104 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGTGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146657 23146658 23146658 exon -28 0.666666666666667 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGTGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 1419 494 0.956134844072106 0.973580557665397 0.964857700868751 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.036606082225203 0.0302981508471282 0.853872279545631 0.931405584332586 NA 0.0334521165361656 NA FALSE NA 1 0.489 . synonymous_variant LOW RAB36 HGNC 9775 ENST00000341989 2/10 1 NA GCG C,T 1.647e-05 22:23146658 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 synonymous_variant 1.113322 0.96318 0.48242 0.625279 0.719405512275856 0 1.44185655300034e-05 FALSE 2.03085e-05 ENSE00000651221_017 ENSE00000651221 017 22 23488742 23488911 + 50 81 39 A G 23488847 275 106 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGGCCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146659 23146660 23146660 exon -26 0.691358024691358 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGGCCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 370 27 0.974808870654954 0.8 0.887404435327477 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0552801088080512 -0.143282406818269 0.853872279545631 0.931405584332586 NA -0.0440011490051087 NA FALSE NA 1 4.47 . missense_variant MODERATE RAB36 HGNC 9775 ENST00000341989 2/10 1 deleterious(0.01) benign(0.099) NA GAC A,G 2.471e-05 22:23146660 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 missense_variant 3.483371 0.98788 0.95698 0.625279 0.991379369240889 0 1.44185655300034e-05 FALSE 2.03077e-05 ENSE00000651221_018 ENSE00000651221 018 22 23488742 23488911 + 50 81 39 C T 23488849 276 108 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACTGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146661 23146662 23146662 exon -24 0.716049382716049 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACTGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 961 457 0.800167661519444 0.825441319991399 0.812804490755421 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA -0.119361100327459 -0.11784108682687 0.853872279545631 0.931405584332586 NA -0.118601093577164 NA FALSE NA 1 2.411 rs148744836 missense_variant MODERATE RAB36 HGNC 9775 ENST00000341989 2/10 rs148744836 1 deleterious(0) possibly_damaging(0.462) NA T:0 T:0.0001 CCG C,T 3.295e-05 22:23146662 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 missense_variant 4.216676 0.97414 0.906 0.625279 0.999068878519552 0 1.44185655300034e-05 FALSE 4.06161e-05 ENSE00000651221_019 ENSE00000651221 019 22 23488742 23488911 + 50 81 39 G A 23488850 277 109 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCATGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146662 23146663 23146663 exon -23 0.728395061728395 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCATGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 303 957 0.971580438766078 0.950516216108703 0.961048327437391 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0520516769191757 0.00723380929043482 0.853872279545631 0.931405584332586 NA 0.0296427431048052 NA FALSE NA 1 6.439 rs142316830 missense_variant MODERATE RAB36 HGNC 9775 ENST00000341989 2/10 rs142316830 1 deleterious(0.01) probably_damaging(0.992) NA A:0.0002 A:0 CGT G,A 1.647e-05 22:23146663 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 missense_variant 5.261259 0.97973 0.96921 0.625279 0.998539721733315 0 1.44185655300034e-05 FALSE 1.21862e-05 ENSE00000651221_021 ENSE00000651221 021 22 23488742 23488911 + 50 81 39 C T 23488857 279 116 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATTGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146669 23146670 23146670 exon -16 0.814814814814815 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATTGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 933 45 0 0.00720048029303152 0.00360024014651576 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA -0.919528761846903 -0.936081926525237 0.853872279545631 0.931405584332586 NA -0.92780534418607 NA TRUE NA 0.55 0.371 . synonymous_variant LOW RAB36 HGNC 9775 ENST00000341989 2/10 1 NA TCG C,T 1.647e-05 22:23146670 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 synonymous_variant 1.206038 0.94045 0.42386 0.549168 0.671950074090054 0 1.44185655300034e-05 FALSE 1.21858e-05 ENSE00000651221_022 ENSE00000651221 022 22 23488742 23488911 + 50 81 39 G A 23488858 280 117 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCACCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146670 23146671 23146671 exon -15 0.827160493827161 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCACCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 435 39 0.84894763363007 0.81012824962012 0.829537941625095 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA -0.0705811282168323 -0.133154157198148 0.853872279545631 0.931405584332586 NA -0.10186764270749 NA FALSE NA 0.52 -0.24 . missense_variant MODERATE RAB36 HGNC 9775 ENST00000341989 2/10 1 tolerated(1) benign(0.004) NA CGC G,A 1.647e-05 22:23146671 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 missense_variant -1.066254 0.14603 0.03379 0.549168 0.768795445125181 0 1.44185655300034e-05 FALSE 8.12585e-06 ENSE00000651221_023 ENSE00000651221 023 22 23488742 23488911 + 50 81 39 C T 23488859 281 118 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGTCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146671 23146672 23146672 exon -14 0.839506172839506 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGTCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 25 638 0.95 0.921926531763736 0.935963265881868 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0304712381530973 -0.0213558750545327 0.853872279545631 0.931405584332586 NA 0.00455768154928227 NA FALSE NA 0.767 0.923 rs61747143 missense_variant MODERATE RAB36 HGNC 9775 ENST00000341989 2/10 rs61747143 1 tolerated(0.09) benign(0.008) T:0.0032 T:0.0121 T:0 NA T:0 T:0 T:0 T:0.0109 T:0 GCC C,T 0.001038 22:23146672 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 missense_variant 0.325459 0.25466 0.35498 0.549168 0.971595639699508 0 1.44185655300034e-05 FALSE 0.000698625 ENSE00000651221_027 ENSE00000651221 027 22 23488742 23488911 + 50 81 39 C G 23488882 285 141 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTGATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146694 23146695 23146695 downstr_intron 10 1.26315789473684 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTGATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 443 285 0.871593075068002 0.967110666213167 0.919351870640584 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA -0.0479356867789007 0.023828259394898 0.853872279545631 0.931405584332586 NA -0.0120537136920014 NA FALSE NA 0.002 0.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:23146695 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 intron_variant 0.623801 0.29688 0.01926 0.07523 0.747875667045711 0.167683 1.44185655300034e-05 FALSE 1.6267e-05 ENSE00000651221_028 ENSE00000651221 028 22 23488742 23488911 + 50 81 39 C T 23488882 286 141 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTTATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146694 23146695 23146695 downstr_intron 10 1.26315789473684 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTTATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 374 38 0.962794837038916 0.945903187853224 0.95434901244607 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0432660751920138 0.00262078103495533 0.853872279545631 0.931405584332586 NA 0.0229434281134845 NA FALSE NA 0.002 0.423 NA NA NA RAB36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB36 NA NA NA ENSG00000100228 ENSE00000651221 intron_variant 0.78869 0.25717 0.01537 0.07523 0.827496390950356 0.167683 1.44185655300034e-05 FALSE 4.06676e-06 ENSE00000651221_029 ENSE00000651221 029 22 23488742 23488911 + 50 81 39 A G 23488883 287 142 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCGTTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146695 23146696 23146696 downstr_intron 11 1.28947368421053 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCGTTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 881 284 0.953508549149804 0.96907894500271 0.961293747076257 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.033979787302901 0.0257965381844409 0.853872279545631 0.931405584332586 NA 0.029888162743671 NA FALSE NA 0 -0.673 . intron_variant MODIFIER RAB36 HGNC 9775 ENST00000341989 2/9 rs371341601 1 NA G:0 G:0.0001 CAT A,G 2.471e-05 22:23146696 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 intron_variant 0.666341 0.11531 0.00247 0.07523 0.645017751520055 0.0936155 1.44185655300034e-05 FALSE 8.13286e-06 ENSE00000651221_030 ENSE00000651221 030 22 23488742 23488911 + 50 81 39 C T 23488887 288 146 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTATGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146699 23146700 23146700 downstr_intron 15 1.39473684210526 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTATGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 157 45 0.922647382602228 0.95 0.936323691301114 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.00311862075532521 0.00671759318173148 0.853872279545631 0.931405584332586 NA 0.00491810696852835 NA FALSE NA 0 -1.616 . intron_variant MODIFIER RAB36 HGNC 9775 ENST00000341989 2/9 rs374946011 1 NA T:0 T:0.0001 ACG C,T 7.413e-05 22:23146700 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 intron_variant 0.229575 0.07011 0.00243 0.07523 0.796094267572992 0.144901 1.44185655300034e-05 FALSE 5.29381e-05 ENSE00000651221_032 ENSE00000651221 032 22 23488742 23488911 + 50 81 39 G T 23488892 290 151 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTTCAGTGCTCTCCTGGCCCTG 23146554 23146724 23146704 23146705 23146705 downstr_intron 20 1.52631578947368 CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTTCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG mutant NA NA NA NA NA 258 79 0.975005755064001 0.98244181825378 0.97872378665889 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA 0.0554769932170988 0.0391594114355109 0.853872279545631 0.931405584332586 NA 0.0473182023263048 NA FALSE NA 0 -0.018 . intron_variant MODIFIER RAB36 HGNC 9775 ENST00000341989 2/9 1 NA TGC G,T 8.236e-06 22:23146705 RAB36 HGNC Symbol protein_coding 19024 ENSG00000100228 ENSE00000651221 intron_variant -0.165012 0.10165 0.0102 0.07523 0.748490434765962 0.0936155 1.44185655300034e-05 FALSE NA ENSE00000651221_BRK ENSE00000651221 BRK 22 23488742 23488911 + 50 81 39 A,G; T,T NA NA NA CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACTTGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGCCAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG 23146554 23146724 NA NA NA NA NA NA CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACTTGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGCCAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG CAGGTATTTGCACAGCTCCTTAACTGTCTTTCTCCTGGTTGGGTCCACAGGACTGTGGAAGAATGAGGTCCTCCCTGACACCTTTGGGGCCCCCTGTGAGCCGCGACCGTGTCATCGCCAGCTTCCCTAAGGTAGAGAGTCATTACGTCTGCAGTGCTCTCCTGGCCCTG control NA NA NA NA NA 786 39 0 0.0620969980244706 0.0310484990122353 0.85 0.857744559091261 0.919528761846903 0.943282406818269 NA NA -0.919528761846903 -0.881185408793798 0.853872279545631 0.931405584332586 NA -0.90035708532035 NA TRUE NA NA NA NA NA NA RAB36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB36 NA NA NA ENSG00000100228 ENSE00000651221 NA NA NA NA NA NA NA 1.44185655300034e-05 FALSE NA ENSE00000651893_000 ENSE00000651893 000 22 26884315 26884484 + 41 99 30 NA NA NA NA NA GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 NA NA NA NA NA NA GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC natural 134 41 0.93500880881288 0.971548167513563 0.953278488163221 2689 2129 0.964264500585813 0.99480982622296 0.979537163404386 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 0 0 0 0 0.953278488163221 0.979537163404386 0 0 0 FALSE FALSE NA NA NA NA NA HPS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRRD NA NA NA ENSG00000100104 ENSE00003529773 NA NA NA NA NA NA NA 1.58605385256121e-06 FALSE NA ENSE00000651893_001 ENSE00000651893 001 22 26884315 26884484 + 41 99 30 T G 26884339 356 25 GATGTTTGGGTTGAAGTAAACAACGCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488372 26488373 26488373 upstr_intron -17 -0.390243902439024 GATGTTTGGGTTGAAGTAAACAACGCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 183 977 0.988043038156804 0.998980754407059 0.993511896281931 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0237785375709909 0.00417092818409859 0.953278488163221 0.979537163404386 NA 0.0139747328775447 NA FALSE NA 0 -0.148 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 rs369616256 1 NA G:0.0003 G:0 CTC T,G 8.275e-06 22:26488373 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 intron_variant 1.565964 0.23595 0.28809 0.139865 0.850706016580849 0.289711 1.58605385256121e-06 FALSE 4.06141e-06 ENSE00000651893_004 ENSE00000651893 004 22 26884315 26884484 + 41 99 30 C T 26884349 359 35 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCTTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488382 26488383 26488383 upstr_intron -7 -0.146341463414634 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCTTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 994 100 1 0.95 0.975 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0357354994141872 -0.0448098262229601 0.953278488163221 0.979537163404386 NA -0.00453716340438648 NA FALSE NA 0 0.199 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:26488383 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 splice_region_variant 0.979336 0.22217 0.09374 0.139865 0.579716688541755 0.456852 1.58605385256121e-06 FALSE 1.2184e-05 ENSE00000651893_005 ENSE00000651893 005 22 26884315 26884484 + 41 99 30 C G 26884349 360 35 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCGTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488382 26488383 26488383 upstr_intron -7 -0.146341463414634 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCGTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 282 88 0.938854079320242 0.808545253140356 0.873699666230299 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA -0.0254104212655709 -0.186264573082604 0.953278488163221 0.979537163404386 NA -0.105837497174087 NA FALSE NA 0 0.199 NA NA NA HPS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRRD NA NA NA ENSG00000100104 ENSE00003529773 splice_region_variant 0.824837 0.27816 0.24973 0.139865 0.756896836358579 0.456852 1.58605385256121e-06 FALSE 4.06134e-06 ENSE00000651893_006 ENSE00000651893 006 22 26884315 26884484 + 41 99 30 T C 26884350 361 36 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCCTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488383 26488384 26488384 upstr_intron -6 -0.121951219512195 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCCTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 1546 1261 0.800337554595276 0.8 0.800168777297638 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA -0.163926945990536 -0.19480982622296 0.953278488163221 0.979537163404386 NA -0.179368386106748 NA FALSE NA 0 -0.123 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 1 NA CTT T,C 8.276e-06 22:26488384 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 splice_region_variant 0.66869 0.24649 0.09983 0.139865 0.898834097400091 0.456852 1.58605385256121e-06 FALSE 8.12262e-06 ENSE00000651893_008 ENSE00000651893 008 22 26884315 26884484 + 41 99 30 T C 26884394 363 80 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTCAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488427 26488428 26488428 exon 39 0.393939393939394 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTCAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 855 179 0.999372590187653 1 0.999686295093827 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0351080896018405 0.0051901737770399 0.953278488163221 0.979537163404386 NA 0.0201491316894402 NA FALSE NA 0.277 -0.574 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 1 NA TTA T,C 8.275e-06 22:26488428 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 synonymous_variant 0.621807 0.42324 0.09099 0.722319 0.744955315935431 0 1.58605385256121e-06 FALSE NA ENSE00000651893_009 ENSE00000651893 009 22 26884315 26884484 + 41 99 30 A G 26884399 364 85 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCGACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488432 26488433 26488433 exon 44 0.444444444444444 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCGACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 105 1240 0.999607402722103 0.999352874397542 0.999480138559822 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0353429021362898 0.00454304817458218 0.953278488163221 0.979537163404386 NA 0.019942975155436 NA FALSE NA 0 -0.471 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 1 NA CAA A,G 8.275e-06 22:26488433 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 missense_variant 0.27289 0.24297 0.15002 0.722319 0.884836599239135 0 1.58605385256121e-06 FALSE 4.06114e-06 ENSE00000651893_010 ENSE00000651893 010 22 26884315 26884484 + 41 99 30 G A 26884404 365 90 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTAAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488437 26488438 26488438 exon 49 0.494949494949495 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTAAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 175 1105 0.814193553792522 0.616719319063175 0.715456436427849 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA -0.150070946793291 -0.378090507159785 0.953278488163221 0.979537163404386 NA -0.264080726976538 NA FALSE NA 1 7.254 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 rs374288142 1 NA A:0 A:0.0001 TGA G,A 1.655e-05 22:26488438 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 missense_variant 6.880292 0.9714 0.97128 0.722319 0.999350885802742 0 1.58605385256121e-06 FALSE 1.21837e-05 ENSE00000651893_011 ENSE00000651893 011 22 26884315 26884484 + 41 99 30 T C 26884408 366 94 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAACTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488441 26488442 26488442 exon -47 0.535353535353535 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAACTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 424 595 1 0.999734105521482 0.999867052760741 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0357354994141872 0.00492427929852168 0.953278488163221 0.979537163404386 NA 0.0203298893563544 NA FALSE NA 0.011 0.017 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 COSM3363589 1 NA ATT T,C 8.274e-06 22:26488442 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 missense_variant -0.40824 0.25213 0.1604 0.722319 0.779274963573795 0 1.58605385256121e-06 FALSE 4.06121e-06 ENSE00000651893_012 ENSE00000651893 012 22 26884315 26884484 + 41 99 30 C G 26884416 367 102 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCGTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488449 26488450 26488450 exon -39 0.616161616161616 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCGTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 413 228 0.986364841350017 1 0.993182420675009 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0221003407642044 0.0051901737770399 0.953278488163221 0.979537163404386 NA 0.0136452572706222 NA FALSE NA 1 2.337 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 1 NA CCT C,G 1.655e-05 22:26488450 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 missense_variant 3.242033 0.95758 0.93453 0.722319 0.990638720689057 0 1.58605385256121e-06 FALSE 8.12249e-06 ENSE00000651893_013 ENSE00000651893 013 22 26884315 26884484 + 41 99 30 G A 26884428 368 114 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTAGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488461 26488462 26488462 exon -27 0.737373737373737 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTAGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 477 1106 0.826692439093862 0.845837146524389 0.836264792809126 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA -0.137572061491951 -0.148972679698571 0.953278488163221 0.979537163404386 NA -0.143272370595261 NA FALSE NA 1 4.423 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 1 NA TGG G,A 8.274e-06 22:26488462 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 missense_variant 5.090556 0.94099 0.92395 0.722319 0.998003670924631 0 1.58605385256121e-06 FALSE 4.06154e-06 ENSE00000651893_014 ENSE00000651893 014 22 26884315 26884484 + 41 99 30 G A 26884429 369 115 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGATGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488462 26488463 26488463 exon -26 0.747474747474748 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGATGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 1029 406 0.991094397766629 0.999220124328933 0.995157261047781 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0268298971808159 0.00441029810597326 0.953278488163221 0.979537163404386 NA 0.0156200976433946 NA FALSE NA 1 7.254 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 1 NA GGT G,A 1.655e-05 22:26488463 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 missense_variant 3.93802 0.94116 0.9624 0.722319 0.996634720990093 0 1.58605385256121e-06 FALSE 4.06161e-06 ENSE00000651893_015 ENSE00000651893 015 22 26884315 26884484 + 41 99 30 C T 26884451 370 137 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAATGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488484 26488485 26488485 exon -4 0.96969696969697 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAATGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 334 80 0.994914092421905 1 0.997457046210953 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0306495918360925 0.0051901737770399 0.953278488163221 0.979537163404386 NA 0.0179198828065662 NA FALSE NA 0.005 -1.462 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 rs531191643 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 0.0001158 22:26488485 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 synonymous_variant 1.466995 0.20892 0.02668 0.722319 0.64778085665678 0 1.58605385256121e-06 FALSE 9.75079e-05 ENSE00000651893_017 ENSE00000651893 017 22 26884315 26884484 + 41 99 30 A G 26884453 372 139 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGGGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 26488486 26488487 26488487 exon -2 0.98989898989899 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGGGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 47 512 0.0105206989742802 0.000988000203296225 0.0057543495887882 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA -0.953743801611533 -0.993821826019664 0.953278488163221 0.979537163404386 NA -0.973782813815598 NA TRUE NA 1 6.791 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 1 NA GAG A,G 8.273e-06 22:26488487 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 missense_variant 6.143024 0.96899 0.98101 0.722319 0.99912841328135 0 1.58605385256121e-06 FALSE 4.06273e-06 ENSE00000651893_018 ENSE00000651893 018 22 26884315 26884484 + 41 99 30 G T 26884474 373 160 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGATCAGACAGAAC 26488348 26488518 26488507 26488508 26488508 downstr_intron 20 1.68965517241379 GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGATCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC mutant NA NA NA NA NA 746 16 0.998724240672241 1 0.99936212033612 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA 0.0344597400864278 0.0051901737770399 0.953278488163221 0.979537163404386 NA 0.0198249569317339 NA FALSE NA 0 -1.695 . upstream_gene_variant MODIFIER HPS4 HGNC 15844 ENST00000466781 rs368699665 1 NA T:0 T:0.0001 AGC G,T 8.273e-06 22:26488508 SRRD HGNC Symbol protein_coding 10781 ENSG00000100104 ENSE00003529773 intron_variant -0.33243 0.19444 0.09776 0.121938 0.496075093103404 0.0591153 1.58605385256121e-06 FALSE 1.22083e-05 ENSE00000651893_BRK ENSE00000651893 BRK 22 26884315 26884484 + 41 99 30 A,G; T,T NA NA NA GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTTTATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGCCAAGTGGTTTAAAGGGGAGCAGACAGAAC 26488348 26488518 NA NA NA NA NA NA GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTTTATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGCCAAGTGGTTTAAAGGGGAGCAGACAGAAC GATGTTTGGGTTGAAGTAAACAACTCATTCTTCCCTTCTAGATTCCCAGAAGTCACTGTTGGGTATATGACCCTCTGTTTAGCCAACTTGAAATTGAAGTCCTTAACACCCTTGGTGTGACTGTTCTCAGTGAGAACGAGGTAAGTGGTTTAAAGGGGAGCAGACAGAAC control NA NA NA NA NA 202 95 0 0 0 0.93500880881288 0.971548167513563 0.964264500585813 0.99480982622296 NA NA -0.964264500585813 -0.99480982622296 0.953278488163221 0.979537163404386 NA -0.979537163404386 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRRD NA NA NA ENSG00000100104 ENSE00003529773 NA NA NA NA NA NA NA 1.58605385256121e-06 FALSE NA ENSE00000652099_000 ENSE00000652099 000 22 30038143 30038312 + 48 84 38 NA NA NA NA NA CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 NA NA NA NA NA NA CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT natural NA NA NA NA NA 2083 582 0.999018936128949 0.994587903841815 0.996803419985382 NA NA 0.999018936128949 0.994587903841815 NA NA 0 0 NA 0.996803419985382 NA 0 NA FALSE NA NA NA NA NA NA NF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NF2 NA NA NA ENSG00000186575 ENSE00000652099 NA NA NA NA NA NA NA 0.999923343294104 TRUE NA ENSE00000652099_001 ENSE00000652099 001 22 30038143 30038312 + 48 84 38 C G 30038155 437 13 CTCACTTCCACTGACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 29642165 29642166 29642166 upstr_intron -36 -0.729166666666667 CTCACTTCCACTGACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT mutant NA NA NA NA NA 194 200 0.965954702831289 0.98814216232991 0.9770484325806 NA NA 0.999018936128949 0.994587903841815 NA NA -0.0330642332976603 -0.00644574151190469 NA 0.996803419985382 NA -0.0197549874047825 NA FALSE NA 0 -0.291 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 1/9 1 NA TCA C,G 8.237e-06 22:29642166 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00000652099 intron_variant 0.190203 0.23164 0.15565 0 0.498861962248817 0.103827 0.999923343294104 TRUE 4.07581e-06 ENSE00000652099_003 ENSE00000652099 003 22 30038143 30038312 + 48 84 38 G T 30038168 439 26 CTCACTTCCACTCACAGAGTATCATTTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 29642178 29642179 29642179 upstr_intron -23 -0.458333333333333 CTCACTTCCACTCACAGAGTATCATTTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT mutant NA NA NA NA NA 1228 1290 0.927875895260022 0.987102074677265 0.957488984968644 NA NA 0.999018936128949 0.994587903841815 NA NA -0.0711430408689268 -0.00748582916455043 NA 0.996803419985382 NA -0.0393144350167386 NA FALSE NA 0 -0.304 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 1/9 1 NA TGT G,T 8.236e-06 22:29642179 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00000652099 intron_variant -0.320539 0.15305 0.12159 0 0.494649219702699 0.0599101 0.999923343294104 TRUE 4.06888e-06 ENSE00000652099_004 ENSE00000652099 004 22 30038143 30038312 + 48 84 38 T C 30038182 440 40 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCCCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 29642192 29642193 29642193 upstr_intron -9 -0.166666666666667 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCCCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT mutant NA NA NA NA NA 299 31 1 1 1 NA NA 0.999018936128949 0.994587903841815 NA NA 0.000981063871050791 0.00541209615818494 NA 0.996803419985382 NA 0.00319658001461787 NA FALSE NA 0.017 2.574 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 1/9 1 NA CTC T,C 8.236e-06 22:29642193 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00000652099 intron_variant 1.728947 0.19372 0.07448 0 0.764918374848618 0.286956 0.999923343294104 TRUE 4.06656e-06 ENSE00000652099_007 ENSE00000652099 007 22 30038143 30038312 + 48 84 38 A G 30038203 443 61 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGGTTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 29642213 29642214 29642214 exon 13 0.154761904761905 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGGTTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT mutant NA NA NA NA NA 88 161 1 0.999763272077144 0.999881636038572 NA NA 0.999018936128949 0.994587903841815 NA NA 0.000981063871050791 0.00517536823532883 NA 0.996803419985382 NA 0.00307821605318981 NA FALSE NA 1 9.257 . missense_variant MODERATE NF2 HGNC 7773 ENST00000347330 2/10 1 deleterious_low_confidence(0.01) benign(0.001) NA GAT A,G 8.236e-06 22:29642214 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00000652099 missense_variant 2.944107 0.96078 0.95154 0.722319 0.997751597838269 0 0.999923343294104 TRUE NA ENSE00000652099_008 ENSE00000652099 008 22 30038143 30038312 + 48 84 38 C T 30038223 444 81 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTATTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 29642233 29642234 29642234 exon 33 0.392857142857143 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTATTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT mutant NA NA NA NA NA 53 200 1 0.992634014066071 0.996317007033035 NA NA 0.999018936128949 0.994587903841815 NA NA 0.000981063871050791 -0.00195388977574418 NA 0.996803419985382 NA -0.000486412952346693 NA FALSE NA 1 1.704 . synonymous_variant LOW NF2 HGNC 7773 ENST00000347330 2/10 COSM3992082&COSM3992083 1 NA ACT C,T 8.236e-06 22:29642234 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00000652099 synonymous_variant 1.459378 0.92296 0.82924 0.722319 0.519317738199188 0 0.999923343294104 TRUE 4.06441e-06 ENSE00000652099_009 ENSE00000652099 009 22 30038143 30038312 + 48 84 38 G C 30038225 445 83 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTCCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 29642235 29642236 29642236 exon 35 0.416666666666667 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTCCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT mutant NA NA NA NA NA 203 264 0.95681181656458 0.998545298129353 0.977678557346966 NA NA 0.999018936128949 0.994587903841815 NA NA -0.042207119564369 0.0039573942875375 NA 0.996803419985382 NA -0.0191248626384157 NA FALSE NA 1 9.782 . missense_variant MODERATE NF2 HGNC 7773 ENST00000347330 2/10 COSM4103356&COSM4103357 1 deleterious_low_confidence(0) benign(0) NA TGC G,C 8.236e-06 22:29642236 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00000652099 missense_variant 6.053833 0.97092 0.98035 0.722319 0.992781157335049 0 0.999923343294104 TRUE 4.06438e-06 ENSE00000652099_011 ENSE00000652099 011 22 30038143 30038312 + 48 84 38 T G 30038253 447 111 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCGTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 29642263 29642264 29642264 exon -22 0.75 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCGTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT mutant NA NA NA NA NA 264 315 1 1 1 NA NA 0.999018936128949 0.994587903841815 NA NA 0.000981063871050791 0.00541209615818494 NA 0.996803419985382 NA 0.00319658001461787 NA FALSE NA 0.994 0.302 . synonymous_variant LOW NF2 HGNC 7773 ENST00000347330 2/10 1 NA CTT T,G 8.236e-06 22:29642264 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00000652099 synonymous_variant 1.275293 0.89434 0.77849 0.722319 0.751981681855904 0 0.999923343294104 TRUE 4.06352e-06 ENSE00000652099_012 ENSE00000652099 012 22 30038143 30038312 + 48 84 38 G A 30038263 448 121 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCATCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT 29642153 29642323 29642273 29642274 29642274 exon -12 0.869047619047619 CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCATCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT CTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGT mutant NA NA NA NA NA 217 433 1 0.995440425692656 0.997720212846328 NA NA 0.999018936128949 0.994587903841815 NA NA 0.000981063871050791 0.000852521850840726 NA 0.996803419985382 NA 0.000916792860945759 NA FALSE NA 1 9.782 . missense_variant MODERATE NF2 HGNC 7773 ENST00000347330 2/10 COSM24562&COSM1415578 1 tolerated(0.1) benign(0.071) NA CGT G,A 8.236e-06 22:29642274 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00000652099 missense_variant 4.753453 0.95546 0.97104 0.722319 0.99615887826491 0 0.999923343294104 TRUE 8.12896e-06 ENSE00000652508_000 ENSE00000652508 000 Y 21905007 21905176 - 41 78 51 NA NA NA NA NA TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT 19743120 19743290 NA NA NA NA NA NA TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT natural 15 16 0.998763294782285 0.989934553679317 0.994348924230801 6920 4315 0.978282212498524 0.983736786667364 0.981009499582944 0.998763294782285 0.989934553679317 0.978282212498524 0.983736786667364 0 0 0 0 0.994348924230801 0.981009499582944 0 0 0 FALSE FALSE NA NA NA NA NA KDM5D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDM5D NA NA NA ENSG00000012817 ENSE00000652508 NA NA NA NA NA NA NA 0.0151340441544138 FALSE NA ENSE00000652508_001 ENSE00000652508 001 Y 21905007 21905176 - 41 78 51 T C 21905030 18 147 TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACGCTTTTTTTAAAGGAATCTGATCT 19743120 19743290 19743143 19743144 19743144 downstr_intron 18 1.45 TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACGCTTTTTTTAAAGGAATCTGATCT TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT mutant NA NA NA NA NA 184 251 1 1 1 0.998763294782285 0.989934553679317 0.978282212498524 0.983736786667364 NA NA 0.0217177875014763 0.0162632133326364 0.994348924230801 0.981009499582944 NA 0.0189905004170564 NA FALSE NA 0 -1.777 . intron_variant MODIFIER KDM5D HGNC 11115 ENST00000382806 3/25 1 NA GTG .,C 2.955e-05 Y:19743144 KDM5D HGNC Symbol protein_coding 41074 ENSG00000012817 ENSE00000652508 intron_variant 0.238197 0.11001 0.00114 0 0.157641645465024 0 0.0151340441544138 FALSE 3.61755e-05 ENSE00000652508_002 ENSE00000652508 002 Y 21905007 21905176 - 41 78 51 C T 21905051 19 126 TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTAGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT 19743120 19743290 19743164 19743165 19743165 exon -4 0.961538461538462 TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTAGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT mutant NA NA NA NA NA 993 140 0.997061602868626 1 0.998530801434313 0.998763294782285 0.989934553679317 0.978282212498524 0.983736786667364 NA NA 0.0187793903701026 0.0162632133326364 0.994348924230801 0.981009499582944 NA 0.0175213018513695 NA FALSE NA 0.932 -0.063 . synonymous_variant LOW KDM5D HGNC 11115 ENST00000382806 3/26 1 NA CCA .,T 5.883e-05 Y:19743165 KDM5D HGNC Symbol protein_coding 41074 ENSG00000012817 ENSE00000652508 synonymous_variant 1.065559 0.87935 0.07289 0 0.37709384850449 0 0.0151340441544138 FALSE 4.93186e-05 ENSE00000652508_003 ENSE00000652508 003 Y 21905007 21905176 - 41 78 51 T C 21905091 20 86 TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAGTTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT 19743120 19743290 19743204 19743205 19743205 exon 35 0.448717948717949 TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAGTTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT TCTTCATCCTTTACTGTGCCATAGTTACCAGGTCCTTACACTTTCTTCTAGGATTGGCAGCCTCCTTTTGCAGTAGAAGTTGACAATTTCAGATTTACTCCTCGCGTCCAAAGGCTAAATGAACTGGAGGTAAGATTGGGAGGCACACTTTTTTTAAAGGAATCTGATCT mutant NA NA NA NA NA 290 378 1 1 1 0.998763294782285 0.989934553679317 0.978282212498524 0.983736786667364 NA NA 0.0217177875014763 0.0162632133326364 0.994348924230801 0.981009499582944 NA 0.0189905004170564 NA FALSE NA 0.548 0.96 . missense_variant MODERATE KDM5D HGNC 11115 ENST00000382806 3/26 1 tolerated(0.51) possibly_damaging(0.486) NA ATT .,C 2.937e-05 Y:19743205 KDM5D HGNC Symbol protein_coding 41074 ENSG00000012817 ENSE00000652508 missense_variant -0.36334 0.90108 0.17278 0 0.853574179789916 0 0.0151340441544138 FALSE NA ENSE00000654359_000 ENSE00000654359 000 22 38894043 38894212 - 47 66 57 NA NA NA NA NA ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 NA NA NA NA NA NA ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT natural 347 459 0.848584816115269 0.847580706551035 0.848082761333152 7199 10140 0.749553688385818 0.875097669558029 0.812325678971924 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 0 0 0 0 0.848082761333152 0.812325678971924 0 0 0 FALSE FALSE NA NA NA NA NA DDX17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX17 NA NA NA ENSG00000100201 ENSE00003656279 NA NA NA NA NA NA NA NA NA NA ENSE00000654359_001 ENSE00000654359 001 22 38894043 38894212 - 47 66 57 C T 38894057 904 156 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAAAAAAACTACAATTT 38498037 38498207 38498051 38498052 38498052 downstr_intron 33 1.71739130434783 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAAAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 3291 2500 0.954364087027765 0.927780523577585 0.941072305302675 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.204810398641947 0.0526828540195565 0.848082761333152 0.812325678971924 NA 0.128746626330752 NA FALSE NA 0 -0.678 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA TCT C,T 8.236e-06 22:38498052 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 intron_variant 0.939644 0.2025 0.05388 0.283894 0.751062234582329 0.0622299 NA NA 8.17728e-06 ENSE00000654359_002 ENSE00000654359 002 22 38894043 38894212 - 47 66 57 A G 38894062 905 151 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATCCTAAGAAAAACTACAATTT 38498037 38498207 38498056 38498057 38498057 downstr_intron 28 1.60869565217391 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATCCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 256 2640 0.801708555313053 0.845453190886711 0.823580873099882 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.0521548669272345 -0.0296444786713174 0.848082761333152 0.812325678971924 NA 0.0112551941279586 NA FALSE NA 0.035 1.12 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA GAA A,G 8.236e-06 22:38498057 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 intron_variant 0.638892 0.26393 0.07859 0.283894 0.715746774521304 0.0622299 NA NA 2.44816e-05 ENSE00000654359_003 ENSE00000654359 003 22 38894043 38894212 - 47 66 57 A G 38894082 906 131 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGCGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498076 38498077 38498077 downstr_intron 8 1.17391304347826 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGCGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 784 261 0.809173787500452 0.84987026169876 0.829522024599606 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.059620099114634 -0.0252274078592688 0.848082761333152 0.812325678971924 NA 0.0171963456276826 NA FALSE NA 0.23 1.182 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA CAC A,G 8.236e-06 22:38498077 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 splice_region_variant 1.908487 0.97261 0.20653 0.283894 0.898668932640511 0.813766 NA NA 4.06825e-06 ENSE00000654359_004 ENSE00000654359 004 22 38894043 38894212 - 47 66 57 G A 38894090 907 123 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATTGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498084 38498085 38498085 exon -1 1 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATTGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 368 526 0.0108297019444867 0.0552923418489358 0.0330610218967112 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA -0.738723986441332 -0.819805327709093 0.848082761333152 0.812325678971924 NA -0.779264657075212 NA TRUE NA 0.951 0.212 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 rs201507084 1 NA CGA G,A 2.471e-05 22:38498085 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 splice_region_variant 2.350756 0.9567 0.40248 0.67177 0.832023832201404 0 NA NA 1.62512e-05 ENSE00000654359_005 ENSE00000654359 005 22 38894043 38894212 - 47 66 57 T C 38894092 908 121 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAGTCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498086 38498087 38498087 exon -3 0.96969696969697 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAGTCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 523 194 0.156704494269609 0.164519133819573 0.160611814044591 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA -0.59284919411621 -0.710578535738456 0.848082761333152 0.812325678971924 NA -0.651713864927333 NA TRUE NA 1 7.62 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA ATT T,C 8.236e-06 22:38498087 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 missense_variant 2.833598 0.99291 0.99478 0.67177 0.997959239572206 0 NA NA 1.62504e-05 ENSE00000654359_006 ENSE00000654359 006 22 38894043 38894212 - 47 66 57 T C 38894117 909 96 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCGTACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498111 38498112 38498112 exon -28 0.590909090909091 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCGTACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 525 972 0.984051468690444 0.98190623348279 0.982978851086617 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.234497780304626 0.106808563924762 0.848082761333152 0.812325678971924 NA 0.170653172114694 NA FALSE NA 0.511 -0.523 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA ATG T,C 8.236e-06 22:38498112 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 synonymous_variant 0.980828 0.96288 0.43884 0.67177 0.795628757215408 0 NA NA 4.06167e-06 ENSE00000654359_007 ENSE00000654359 007 22 38894043 38894212 - 47 66 57 G C 38894123 910 90 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCAGCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498117 38498118 38498118 exon 33 0.5 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCAGCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 1705 471 0.809979171130356 0.811375463663102 0.810677317396729 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.0604254827445374 -0.0637222058949268 0.848082761333152 0.812325678971924 NA -0.00164836157519471 NA FALSE NA 1 0.825 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA GGT G,C 8.236e-06 22:38498118 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 missense_variant 3.618881 0.93249 0.90494 0.67177 0.980357817998369 0 NA NA 4.06144e-06 ENSE00000654359_008 ENSE00000654359 008 22 38894043 38894212 - 47 66 57 T C 38894140 911 73 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAGTTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498134 38498135 38498135 exon 16 0.242424242424242 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAGTTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 1173 4487 0.921213687244825 0.972301084154317 0.946757385699571 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.171659998859007 0.0972034145962882 0.848082761333152 0.812325678971924 NA 0.134431706727647 NA FALSE NA 1 5.955 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA ATT T,C 1.647e-05 22:38498135 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 missense_variant 2.125552 0.95575 0.95834 0.67177 0.991819565481488 0 NA NA 2.43679e-05 ENSE00000654359_009 ENSE00000654359 009 22 38894043 38894212 - 47 66 57 G A 38894160 912 53 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCTACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498154 38498155 38498155 upstr_intron -5 -0.0701754385964912 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCTACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 230 659 0.951645050868632 0.958099933046127 0.954872491957379 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.202091362482814 0.0830022634880977 0.848082761333152 0.812325678971924 NA 0.142546812985456 NA FALSE NA 0.077 0.485 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA TGG G,A 8.236e-06 22:38498155 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 splice_region_variant 0.382657 0.26809 0.35859 0.075938 0.665514647640802 0.220487 NA NA NA ENSE00000654359_010 ENSE00000654359 010 22 38894043 38894212 - 47 66 57 G A 38894163 913 50 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCTTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498157 38498158 38498158 upstr_intron -8 -0.12280701754386 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCTTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 403 2312 0.802467906311221 0.896536195017061 0.849502050664141 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.0529142179254032 0.0214385254590322 0.848082761333152 0.812325678971924 NA 0.0371763716922177 NA FALSE NA 0 -0.034 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA AGG G,A 8.236e-06 22:38498158 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 splice_region_variant 0.219516 0.22697 0.14077 0.075938 0.492506532373289 0.204311 NA NA 4.06683e-06 ENSE00000654359_011 ENSE00000654359 011 22 38894043 38894212 - 47 66 57 G T 38894164 914 49 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCACTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498158 38498159 38498159 upstr_intron -9 -0.140350877192982 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCACTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 767 1495 0.174844411140032 0.110438676945793 0.142641544042912 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA -0.574709277245786 -0.764658992612236 0.848082761333152 0.812325678971924 NA -0.669684134929011 NA TRUE NA 0 0.337 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 1 NA GGG G,T 8.236e-06 22:38498159 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 intron_variant 0.22211 0.29176 0.27543 0.075938 0.514837620660795 0.136618 NA NA 8.13511e-06 ENSE00000654359_013 ENSE00000654359 013 22 38894043 38894212 - 47 66 57 A T 38894171 916 42 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCATTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498165 38498166 38498166 upstr_intron -16 -0.263157894736842 ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCATTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 209 170 0.00711917351134037 0.00405913301670336 0.00558915326402186 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA -0.742434514874478 -0.871038536541325 0.848082761333152 0.812325678971924 NA -0.806736525707902 NA TRUE NA 0 1.127 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 rs543180215 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 AAG A,T 4.942e-05 22:38498166 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 intron_variant -0.184176 0.25248 0.32532 0.115753 0.440331861627577 0.0493338 NA NA 3.25566e-05 ENSE00000654359_014 ENSE00000654359 014 22 38894043 38894212 - 47 66 57 C T 38894182 917 31 ATCTAAGTAAGATTGTACTTCTAAGCGTAAAGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498176 38498177 38498177 upstr_intron -27 -0.456140350877193 ATCTAAGTAAGATTGTACTTCTAAGCGTAAAGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 2451 1939 0.997816591169435 0.996402322564141 0.997109456866788 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.248262902783617 0.121304653006112 0.848082761333152 0.812325678971924 NA 0.184783777894865 NA FALSE NA 0 -2.672 rs149266326 downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 rs149266326 1 T:0.0020 T:0.0076 T:0 NA T:0 T:0 T:0 T:0.0098 T:0 CCT C,T 0.0009637 22:38498177 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 intron_variant 0.118807 0.17061 0.05789 0.069865 0.507494679016498 0.0499095 NA NA 0.000691925 ENSE00000654359_015 ENSE00000654359 015 22 38894043 38894212 - 47 66 57 C T 38894186 918 27 ATCTAAGTAAGATTGTACTTCTAAGCATAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498180 38498181 38498181 upstr_intron -31 -0.526315789473684 ATCTAAGTAAGATTGTACTTCTAAGCATAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 1731 581 0.952479350432741 0.973328306975531 0.962903828704136 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.202925662046923 0.0982306374175024 0.848082761333152 0.812325678971924 NA 0.150578149732213 NA FALSE NA 0 -1.127 rs118095885 downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 rs118095885 1 T:0.0032 T:0 T:0 NA T:0.0159 T:0 T:0 ACG C,T 0.001054 22:38498181 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 intron_variant -0.170194 0.13598 0.02058 0.069865 0.522704320337139 0.0499095 NA NA 0.000997716 ENSE00000654359_016 ENSE00000654359 016 22 38894043 38894212 - 47 66 57 G A 38894187 919 26 ATCTAAGTAAGATTGTACTTCTAAGTGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498181 38498182 38498182 upstr_intron -32 -0.543859649122807 ATCTAAGTAAGATTGTACTTCTAAGTGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 784 88 0.963619765726789 0.966396331592513 0.965008048659651 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.214066077340971 0.0912986620344842 0.848082761333152 0.812325678971924 NA 0.152682369687728 NA FALSE NA 0 0.795 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 rs368451877 1 NA A:0 A:0.0001 CGC G,A 2.471e-05 22:38498182 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 intron_variant -0.013609 0.13585 0.02544 0.069865 0.470459934445186 0.0499095 NA NA 1.65072e-05 ENSE00000654359_017 ENSE00000654359 017 22 38894043 38894212 - 47 66 57 T C 38894190 920 23 ATCTAAGTAAGATTGTACTTCTGAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 38498184 38498185 38498185 upstr_intron -35 -0.596491228070175 ATCTAAGTAAGATTGTACTTCTGAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT mutant NA NA NA NA NA 937 2983 0.85657575568695 0.90664422664274 0.881609991164845 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 NA NA 0.107022067301131 0.0315465570847108 0.848082761333152 0.812325678971924 NA 0.0692843121929211 NA FALSE NA 0 -0.007 . downstream_gene_variant MODIFIER DDX17 HGNC 2740 ENST00000467279 rs372438013 1 NA C:0.0002 C:0 TTA T,C 1.647e-05 22:38498185 DDX17 HGNC Symbol protein_coding 24220 ENSG00000100201 ENSE00003656279 intron_variant -0.062668 0.23804 0.08788 0.115753 0.557998154571255 0.0499095 NA NA 2.48203e-05 ENSE00000654359_BRK ENSE00000654359 BRK 22 38894043 38894212 - 47 66 57 A,G; T,T NA NA NA ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACTTTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCCCAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT 38498037 38498207 NA NA NA NA NA NA ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACTTTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCCCAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT ATCTAAGTAAGATTGTACTTCTAAGCGTAAGGTTGTCATTCTTTCCCCCCTCCACAGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCAATCGTAAGTGTGTTTCAGTTTCTTTGTAATTCTAAGAAAAACTACAATTT control 28 15 0 0 0 3065 447 0.000881923444598827 0.000716171330974965 0.000799047387786896 0.848584816115269 0.847580706551035 0.749553688385818 0.875097669558029 -0.848584816115269 -0.847580706551035 -0.748671764941219 -0.874381498227054 0.848082761333152 0.812325678971924 -0.848082761333152 -0.811526631584137 0.0365561297490153 TRUE TRUE NA NA NA NA NA DDX17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX17 NA NA NA ENSG00000100201 ENSE00003656279 NA NA NA NA NA NA NA NA NA NA ENSE00000654726_000 ENSE00000654726 000 22 39812749 39812918 + 47 87 36 NA NA NA NA NA ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 NA NA NA NA NA NA ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC natural 95 64 0.989824294301665 0.984296700118254 0.98706049720996 2927 1980 0.967667038716092 0.851307097939413 0.909487068327753 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 0 0 0 0 0.98706049720996 0.909487068327753 0 0 0 FALSE FALSE NA NA NA NA NA TAB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAB1 NA NA NA ENSG00000100324 ENSE00000654726 NA NA NA NA NA NA NA 0.00399581121095206 FALSE NA ENSE00000654726_001 ENSE00000654726 001 22 39812749 39812918 + 47 87 36 T G 39812761 949 13 ACAGTGGTGTTTGGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416755 39416756 39416756 upstr_intron -35 -0.723404255319149 ACAGTGGTGTTTGGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 2419 72 0.996806537208786 0.98988159970105 0.993344068454918 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0291394984926938 0.138574501761637 0.98706049720996 0.909487068327753 NA 0.0838570001271654 NA FALSE NA 0.019 2.811 . intron_variant&non_coding_transcript_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 2/2 1 NA TTG T,G 1.647e-05 22:39416756 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 non_coding_transcript_exon_variant 0.769126 0.46396 0.44914 0.099367 0.763135209345783 0.576516 0.00399581121095206 FALSE 1.62853e-05 ENSE00000654726_002 ENSE00000654726 002 22 39812749 39812918 + 47 87 36 G C 39812762 950 14 ACAGTGGTGTTTTCAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416756 39416757 39416757 upstr_intron -34 -0.702127659574468 ACAGTGGTGTTTTCAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 272 65 1 1 1 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0905129316722474 NA FALSE NA 0.013 1.192 . intron_variant&non_coding_transcript_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 2/2 1 NA TGA G,C 1.647e-05 22:39416757 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 non_coding_transcript_exon_variant 0.006123 0.35293 0.3671 0.099367 0.736636313931099 0.0863453 0.00399581121095206 FALSE 2.8493e-05 ENSE00000654726_003 ENSE00000654726 003 22 39812749 39812918 + 47 87 36 G A 39812768 951 20 ACAGTGGTGTTTTGAACCAACCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416762 39416763 39416763 upstr_intron -28 -0.574468085106383 ACAGTGGTGTTTTGAACCAACCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 304 1080 0.993297435941105 0.991810234118154 0.99255383502963 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0256303972250129 0.140503136178741 0.98706049720996 0.909487068327753 NA 0.083066766701877 NA FALSE NA 0 -0.04 . intron_variant&non_coding_transcript_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 2/2 1 NA AGC G,A 8.236e-06 22:39416763 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 non_coding_transcript_exon_variant 0.42385 0.19187 0.04195 0.099367 0.691271368501398 0.0863453 0.00399581121095206 FALSE 4.06669e-06 ENSE00000654726_004 ENSE00000654726 004 22 39812749 39812918 + 47 87 36 C G 39812769 952 21 ACAGTGGTGTTTTGAACCAGGCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416763 39416764 39416764 upstr_intron -27 -0.553191489361702 ACAGTGGTGTTTTGAACCAGGCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 440 355 1 1 1 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0905129316722474 NA FALSE NA 0 -0.15 rs34571268 intron_variant&non_coding_transcript_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 2/2 rs34571268 1 G:0.0120 G:0.0431 G:0.0029 NA G:0 G:0.001 G:0 G:0.0386 G:0.0001 GCC C,G 0.003896 22:39416764 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 non_coding_transcript_exon_variant 0.38001 0.26296 0.08885 0.099367 0.703938532280321 0.0863453 0.00399581121095206 FALSE 0.00313918 ENSE00000654726_005 ENSE00000654726 005 22 39812749 39812918 + 47 87 36 G A 39812779 953 31 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTATCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416773 39416774 39416774 upstr_intron -17 -0.340425531914894 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTATCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 1399 327 0.99997058008907 0.987437272365213 0.993703926227141 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323035413729772 0.1361301744258 0.98706049720996 0.909487068327753 NA 0.0842168578993887 NA FALSE NA 0.242 1.728 . intron_variant&non_coding_transcript_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 2/2 rs367926859 1 NA A:0 A:0.0001 TGT G,A 8.236e-06 22:39416774 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 non_coding_transcript_exon_variant 0.369732 0.30829 0.27027 0.099367 0.691148126991676 0.0863453 0.00399581121095206 FALSE 4.06151e-06 ENSE00000654726_006 ENSE00000654726 006 22 39812749 39812918 + 47 87 36 G T 39812784 954 36 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTTTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416778 39416779 39416779 upstr_intron -12 -0.234042553191489 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTTTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 79 357 0.956566470422327 0.996847391041269 0.976706930731798 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA -0.0111005682937652 0.145540293101857 0.98706049720996 0.909487068327753 NA 0.0672198624040457 NA FALSE NA 0 -1.534 . intron_variant&non_coding_transcript_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 2/2 1 NA TGT G,T 8.236e-06 22:39416779 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 non_coding_transcript_exon_variant -0.244666 0.13996 0.05217 0.099367 0.616597087333415 0.0863453 0.00399581121095206 FALSE 1.21839e-05 ENSE00000654726_007 ENSE00000654726 007 22 39812749 39812918 + 47 87 36 G A 39812786 955 38 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTATCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416780 39416781 39416781 upstr_intron -10 -0.191489361702128 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTATCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 315 67 0.889747799579149 1 0.944873899789575 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA -0.077919239136943 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0353868314618221 NA FALSE NA 0.437 2.684 . intron_variant&non_coding_transcript_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 2/2 rs376402719 1 NA A:0.0002 A:0.0005 TGT G,A 0.0001235 22:39416781 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 non_coding_transcript_exon_variant 0.497739 0.64572 0.88721 0.099367 0.604939323973476 0.93624 0.00399581121095206 FALSE 9.34086e-05 ENSE00000654726_008 ENSE00000654726 008 22 39812749 39812918 + 47 87 36 C G 39812789 956 41 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCGCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416783 39416784 39416784 upstr_intron -7 -0.127659574468085 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCGCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 331 271 0.905986593012297 0.999415963899107 0.952701278455702 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA -0.0616804457037956 0.148108865959694 0.98706049720996 0.909487068327753 NA 0.0432142101279492 NA FALSE NA 0.097 0.216 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TAB1 HGNC 18157 ENST00000461775 2/2 1 NA CCC C,G 8.236e-06 22:39416784 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 splice_region_variant 0.10326 0.31531 0.29803 0.099367 0.457634861035514 0.0863453 0.00399581121095206 FALSE 4.06134e-06 ENSE00000654726_009 ENSE00000654726 009 22 39812749 39812918 + 47 87 36 C T 39812791 957 43 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCTCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416785 39416786 39416786 upstr_intron -5 -0.0851063829787234 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCTCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 28 213 0.959312302002127 1 0.979656151001064 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA -0.00835473671396492 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0701690826733111 NA FALSE NA 0 -2.186 rs118131187 splice_region_variant&intron_variant&non_coding_transcript_variant LOW TAB1 HGNC 18157 ENST00000461775 2/2 rs118131187 1 T:0.0062 T:0 T:0 NA T:0.0308 T:0 T:0 T:0.0002 T:0 CCC C,T 0.002743 22:39416786 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 splice_region_variant -0.047247 0.133 0.0132 0.099367 0.402257581893843 0.0863453 0.00399581121095206 FALSE 0.00261937 ENSE00000654726_010 ENSE00000654726 010 22 39812749 39812918 + 47 87 36 G A 39812825 958 77 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTAGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416819 39416820 39416820 exon 30 0.344827586206897 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTAGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 122 131 0.977138771580999 1 0.988569385790499 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.00947173286490632 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0790823174627467 NA FALSE NA 1 2.518 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 1 NA TGG G,A 8.236e-06 22:39416820 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 synonymous_variant 1.328034 0.97349 0.93396 0.706548 0.753460071936036 0 0.00399581121095206 FALSE 8.12137e-06 ENSE00000654726_011 ENSE00000654726 011 22 39812749 39812918 + 47 87 36 A G 39812832 959 84 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCGTTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416826 39416827 39416827 exon 37 0.425287356321839 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCGTTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 101 396 1 1 1 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0905129316722474 NA FALSE NA 1 8.391 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 1 NA CAT A,G 9.06e-05 22:39416827 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 missense_variant 4.384738 0.99231 0.995 0.706548 0.998852268118037 0 0.00399581121095206 FALSE 4.87278e-05 ENSE00000654726_012 ENSE00000654726 012 22 39812749 39812918 + 47 87 36 C T 39812837 960 89 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGATGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416831 39416832 39416832 exon 42 0.482758620689655 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGATGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 943 457 0.92694648059995 0.979088070432369 0.953017275516159 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA -0.0407205581161425 0.127780972492956 0.98706049720996 0.909487068327753 NA 0.0435302071884068 NA FALSE NA 0.929 -0.06 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 COSM1737192 1 NA ACG C,T 8.236e-06 22:39416832 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 synonymous_variant 1.48221 0.9377 0.19417 0.706548 0.598561635369222 0 0.00399581121095206 FALSE 8.12123e-06 ENSE00000654726_013 ENSE00000654726 013 22 39812749 39812918 + 47 87 36 C T 39812840 961 92 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGATGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416834 39416835 39416835 exon -43 0.517241379310345 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGATGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 806 371 0.999488290455233 0.997862549554797 0.998675420005015 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0318212517391406 0.146555451615384 0.98706049720996 0.909487068327753 NA 0.0891883516772624 NA FALSE NA 0.202 -0.58 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs202132585 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 A:0 A:0.0001 ACG C,T 2.471e-05 22:39416835 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 synonymous_variant 1.686973 0.54627 0.02465 0.706548 0.448469230008515 0 0.00399581121095206 FALSE 2.43637e-05 ENSE00000654726_014 ENSE00000654726 014 22 39812749 39812918 + 47 87 36 G A 39812841 962 93 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACACCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416835 39416836 39416836 exon -42 0.528735632183908 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACACCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 555 552 1 1 1 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0905129316722474 NA FALSE NA 1 4.825 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs373883129 1 NA A:0.0002 A:0 CGC G,A 3.295e-05 22:39416836 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 missense_variant 1.442153 0.80017 0.94905 0.706548 0.929733339803982 0 0.00399581121095206 FALSE 1.62441e-05 ENSE00000654726_015 ENSE00000654726 015 22 39812749 39812918 + 47 87 36 C T 39812842 963 94 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGTCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416836 39416837 39416837 exon -41 0.540229885057471 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGTCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 32 97 1 1 1 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0905129316722474 NA FALSE NA 0.999 4.195 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs376706024 1 NA T:0 T:0.0001 GCC C,T 1.647e-05 22:39416837 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 missense_variant 1.528696 0.8322 0.95359 0.706548 0.928612956711278 0 0.00399581121095206 FALSE 4.06068e-06 ENSE00000654726_016 ENSE00000654726 016 22 39812749 39812918 + 47 87 36 T G 39812863 964 115 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCGCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416857 39416858 39416858 exon -20 0.781609195402299 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCGCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 155 167 1 0.867156634449942 0.933578317224971 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.0158495365105293 0.98706049720996 0.909487068327753 NA 0.0240912488972185 NA FALSE NA 1 7.1 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 1 NA CTC T,G 8.236e-06 22:39416858 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 missense_variant 6.590644 0.99165 0.99718 0.706548 0.997580391675062 0 0.00399581121095206 FALSE 1.21823e-05 ENSE00000654726_017 ENSE00000654726 017 22 39812749 39812918 + 47 87 36 G T 39812867 965 119 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCATTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416861 39416862 39416862 exon -16 0.827586206896552 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCATTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 640 1440 0.995354876534491 0.916144921141477 0.955749898837984 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0276878378183981 0.0648378232020647 0.98706049720996 0.909487068327753 NA 0.0462628305102314 NA FALSE NA 1 2.727 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 1 NA AGT G,T 8.236e-06 22:39416862 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 missense_variant 2.918887 0.98582 0.97524 0.706548 0.994758862435053 0 0.00399581121095206 FALSE 4.06085e-06 ENSE00000654726_018 ENSE00000654726 018 22 39812749 39812918 + 47 87 36 G A 39812870 966 122 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCACAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416864 39416865 39416865 exon -13 0.862068965517241 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCACAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 218 196 1 0.99268925501033 0.996344627505165 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.141382157070917 0.98706049720996 0.909487068327753 NA 0.0868575591774123 NA FALSE NA 0.396 -0.582 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs567476522 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 1.647e-05 22:39416865 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 synonymous_variant 1.702637 0.96955 0.4379 0.706548 0.823676521826815 0 0.00399581121095206 FALSE 1.62444e-05 ENSE00000654726_020 ENSE00000654726 020 22 39812749 39812918 + 47 87 36 A G 39812879 968 131 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCGGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416873 39416874 39416874 exon -4 0.96551724137931 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCGGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 509 505 1 0.995365832707175 0.997682916353588 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.144058734767763 0.98706049720996 0.909487068327753 NA 0.0881958480258351 NA FALSE NA 0.29 -0.561 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs368808459 1 NA G:0 G:0.0001 CAG A,G 1.647e-05 22:39416874 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 synonymous_variant 0.302618 0.92854 0.47906 0.706548 0.541259106263903 0 0.00399581121095206 FALSE 2.03057e-05 ENSE00000654726_021 ENSE00000654726 021 22 39812749 39812918 + 47 87 36 G A 39812880 969 132 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAAAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416874 39416875 39416875 exon -3 0.977011494252874 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAAAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 78 600 0.98601687357045 0.997871695325288 0.991944284447869 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0183498348543576 0.146564597385875 0.98706049720996 0.909487068327753 NA 0.0824572161201164 NA FALSE NA 1 7.361 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 1 NA AGA G,A 8.236e-06 22:39416875 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 missense_variant 6.343904 0.98644 0.99503 0.706548 0.999164203784954 0 0.00399581121095206 FALSE 4.06131e-06 ENSE00000654726_022 ENSE00000654726 022 22 39812749 39812918 + 47 87 36 T C 39812887 970 139 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAACTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416881 39416882 39416882 downstr_intron 5 1.14285714285714 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAACTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 61 48 1 1 1 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0905129316722474 NA FALSE NA 0 -1.129 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs528153263 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATT T,C 8.236e-06 22:39416882 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 splice_region_variant -0.309304 0.15261 0.02972 0.099367 0.500328452648672 0.104496 0.00399581121095206 FALSE 8.12328e-06 ENSE00000654726_023 ENSE00000654726 023 22 39812749 39812918 + 47 87 36 C T 39812897 971 149 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCTGACACCCAGGGGAGTCAAGTC 39416743 39416913 39416891 39416892 39416892 downstr_intron 15 1.42857142857143 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCTGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 348 106 0.998332540381402 1 0.999166270190701 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0306655016653099 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0896792018629485 NA FALSE NA 0 0.056 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs373034533 1 NA T:0.0011 T:0 CCG C,T 6.589e-05 22:39416892 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 intron_variant 0.007807 0.15216 0.00347 0.062308 0.516577826151174 0.0540995 0.00399581121095206 FALSE 5.28356e-05 ENSE00000654726_024 ENSE00000654726 024 22 39812749 39812918 + 47 87 36 G A 39812898 972 150 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCAACACCCAGGGGAGTCAAGTC 39416743 39416913 39416892 39416893 39416893 downstr_intron 16 1.45714285714286 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCAACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 33 40 1 1 1 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0323329612839076 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0905129316722474 NA FALSE NA 0 -1.068 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs201560638 1 NA CGA G,A 1.647e-05 22:39416893 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 intron_variant -0.527914 0.07113 0.00255 0.062308 0.52669653600614 0.0540995 0.00399581121095206 FALSE 1.62637e-05 ENSE00000654726_025 ENSE00000654726 025 22 39812749 39812918 + 47 87 36 A C 39812901 973 153 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACCCCCAGGGGAGTCAAGTC 39416743 39416913 39416895 39416896 39416896 downstr_intron 19 1.54285714285714 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACCCCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 2025 477 0.998584757538025 1 0.999292378769012 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0309177188219326 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0898053104412599 NA FALSE NA 0 -0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:39416896 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 intron_variant 0.034803 0.13747 0.04152 0.062308 0.643502899420259 0.0540995 0.00399581121095206 FALSE 8.13253e-06 ENSE00000654726_026 ENSE00000654726 026 22 39812749 39812918 + 47 87 36 A T 39812901 974 153 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACTCCCAGGGGAGTCAAGTC 39416743 39416913 39416895 39416896 39416896 downstr_intron 19 1.54285714285714 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACTCCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 257 131 0.994479620154008 1 0.997239810077004 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.026812581437916 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0877527417492516 NA FALSE NA 0 -0.054 NA NA NA TAB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAB1 NA NA NA ENSG00000100324 ENSE00000654726 intron_variant 0.11309 0.16401 0.02137 0.062308 0.704559698307886 0.0540995 0.00399581121095206 FALSE 4.06626e-06 ENSE00000654726_027 ENSE00000654726 027 22 39812749 39812918 + 47 87 36 C T 39812902 975 154 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACATCCAGGGGAGTCAAGTC 39416743 39416913 39416896 39416897 39416897 downstr_intron 20 1.57142857142857 ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACATCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC mutant NA NA NA NA NA 260 173 0.998084980742486 1 0.999042490371243 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA 0.0304179420263931 0.148692902060587 0.98706049720996 0.909487068327753 NA 0.0895554220434902 NA FALSE NA 0 0.115 . downstream_gene_variant MODIFIER TAB1 HGNC 18157 ENST00000461775 rs377578530 1 NA T:0 T:0.0003 ACC C,T 0.0003047 22:39416897 TAB1 HGNC Symbol protein_coding 37319 ENSG00000100324 ENSE00000654726 intron_variant 0.373001 0.16747 0.0236 0.062308 0.769226090911129 0.0540995 0.00399581121095206 FALSE 0.000288761 ENSE00000654726_BRK ENSE00000654726 BRK 22 39812749 39812918 + 47 87 36 A,G; T,T NA NA NA ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTTTGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGCCAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC 39416743 39416913 NA NA NA NA NA NA ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTTTGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGCCAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC ACAGTGGTGTTTTGAACCAGCCTTTGCCCTGTCCTGTGTCCCCCTAGGCCTTCGATGTGGTGGAGAGGAGCTTCCTGGAGTCCATTGACGACGCCTTGGCTGAGAAGGCAAGCCTCCAGTCGCAATTGCCAGAGGTAATTTCCCCAGCCGACACCCAGGGGAGTCAAGTC control NA NA NA NA NA 440 516 0.0162004677702912 0.0167632842527795 0.0164818760115353 0.989824294301665 0.984296700118254 0.967667038716092 0.851307097939413 NA NA -0.951466570945801 -0.834543813686633 0.98706049720996 0.909487068327753 NA -0.893005192316217 NA TRUE NA NA NA NA NA NA TAB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAB1 NA NA NA ENSG00000100324 ENSE00000654726 NA NA NA NA NA NA NA 0.00399581121095206 FALSE NA ENSE00000654757_000 ENSE00000654757 000 22 40038758 40038927 + 44 93 33 NA NA NA NA NA TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG 39642752 39642922 NA NA NA NA NA NA TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG natural 35 69 0.993471465874422 0.926971550340254 0.960221508107338 1297 1540 0.992439062882224 0.920456299710569 0.956447681296397 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 0 0 0 0 0.960221508107338 0.956447681296397 0 0 0 FALSE FALSE NA NA NA NA NA CACNA1I NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA1I NA NA NA ENSG00000100346 ENSE00003672143 NA NA NA NA NA NA NA 0.999998893513202 TRUE NA ENSE00000654757_001 ENSE00000654757 001 22 40038758 40038927 + 44 93 33 C T 40038775 976 18 TGATGGGCCAGTCCTCTTGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG 39642752 39642922 39642769 39642770 39642770 upstr_intron -27 -0.590909090909091 TGATGGGCCAGTCCTCTTGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG mutant NA NA NA NA NA 29 22 1 1 1 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 NA NA 0.00756093711777583 0.0795437002894306 0.960221508107338 0.956447681296397 NA 0.0435523187036032 NA FALSE NA 0.002 -0.543 . intron_variant MODIFIER CACNA1I HGNC 1396 ENST00000401624 6/35 1 NA TCG C,T 1.653e-05 22:39642770 CACNA1I HGNC Symbol protein_coding 118984 ENSG00000100346 ENSE00003672143 intron_variant 0.043275 0.2002 0.00561 0.095506 0.681386035557284 0.0443366 0.999998893513202 TRUE NA ENSE00000654757_002 ENSE00000654757 002 22 40038758 40038927 + 44 93 33 G A 40038776 977 19 TGATGGGCCAGTCCTCTCAGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG 39642752 39642922 39642770 39642771 39642771 upstr_intron -26 -0.568181818181818 TGATGGGCCAGTCCTCTCAGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG mutant NA NA NA NA NA 526 277 0.996120668121374 0.976281484421702 0.986201076271538 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 NA NA 0.00368160523914951 0.0558251847111322 0.960221508107338 0.956447681296397 NA 0.0297533949751408 NA FALSE NA 0.001 -0.031 . intron_variant MODIFIER CACNA1I HGNC 1396 ENST00000401624 6/35 rs201234915 1 NA CGG G,A 1.653e-05 22:39642771 CACNA1I HGNC Symbol protein_coding 118984 ENSG00000100346 ENSE00003672143 intron_variant 0.098656 0.24899 0.00601 0.095506 0.779684412486378 0.0443366 0.999998893513202 TRUE 4.23585e-05 ENSE00000654757_006 ENSE00000654757 006 22 40038758 40038927 + 44 93 33 G A 40038793 981 36 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCACGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG 39642752 39642922 39642787 39642788 39642788 upstr_intron -9 -0.181818181818182 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCACGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG mutant NA NA NA NA NA 50 166 1 0.999770412711338 0.999885206355669 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 NA NA 0.00756093711777583 0.0793141130007686 0.960221508107338 0.956447681296397 NA 0.0434375250592722 NA FALSE NA 0 -1.449 . intron_variant MODIFIER CACNA1I HGNC 1396 ENST00000401624 6/35 rs200241888 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 3.302e-05 22:39642788 CACNA1I HGNC Symbol protein_coding 118984 ENSG00000100346 ENSE00003672143 intron_variant -0.26086 0.19663 0.07599 0.095506 0.414424781171848 0.0537711 0.999998893513202 TRUE NA ENSE00000654757_007 ENSE00000654757 007 22 40038758 40038927 + 44 93 33 C T 40038794 982 37 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGTGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG 39642752 39642922 39642788 39642789 39642789 upstr_intron -8 -0.159090909090909 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGTGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG mutant NA NA NA NA NA 92 57 1 0.977131706912353 0.988565853456176 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 NA NA 0.00756093711777583 0.0566754072017831 0.960221508107338 0.956447681296397 NA 0.0321181721597795 NA FALSE NA 0 -1.224 . splice_region_variant&intron_variant LOW CACNA1I HGNC 1396 ENST00000401624 6/35 1 NA GCG C,T 5.779e-05 22:39642789 CACNA1I HGNC Symbol protein_coding 118984 ENSG00000100346 ENSE00003672143 splice_region_variant 0.405404 0.17158 0.02342 0.095506 0.393046579688388 0.0537711 0.999998893513202 TRUE 9.00345e-05 ENSE00000654757_009 ENSE00000654757 009 22 40038758 40038927 + 44 93 33 A T 40038832 984 75 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCTTGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG 39642752 39642922 39642826 39642827 39642827 exon 31 0.333333333333333 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCTTGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG mutant NA NA NA NA NA 36 591 0.944603357639356 0.98208428386841 0.963343820753883 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 NA NA -0.0478357052428681 0.0616279841578404 0.960221508107338 0.956447681296397 NA 0.00689613945748618 NA FALSE NA 1 9.343 . missense_variant MODERATE CACNA1I HGNC 1396 ENST00000401624 7/36 1 deleterious(0) possibly_damaging(0.902) NA CAT A,T 8.255e-06 22:39642827 CACNA1I HGNC Symbol protein_coding 118984 ENSG00000100346 ENSE00003672143 missense_variant 3.321725 0.98682 0.9842 0.59774 0.9638299213566 0 0.999998893513202 TRUE NA ENSE00000654757_011 ENSE00000654757 011 22 40038758 40038927 + 44 93 33 C T 40038855 986 98 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCATTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG 39642752 39642922 39642849 39642850 39642850 exon -40 0.580645161290323 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCATTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG mutant NA NA NA NA NA 71 246 0.916464633974676 0.990665348800983 0.953564991387829 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 NA NA -0.075974428907548 0.0702090490904133 0.960221508107338 0.956447681296397 NA -0.00288268990856738 NA FALSE NA 0.999 0.714 . synonymous_variant LOW CACNA1I HGNC 1396 ENST00000401624 7/36 1 NA ACT C,T 2.477e-05 22:39642850 CACNA1I HGNC Symbol protein_coding 118984 ENSG00000100346 ENSE00003672143 synonymous_variant 1.356835 0.96668 0.71484 0.59774 0.64126806956321 0 0.999998893513202 TRUE 3.29984e-05 ENSE00000654757_013 ENSE00000654757 013 22 40038758 40038927 + 44 93 33 C G 40038911 988 154 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCGTGGGCTCCTAGGTGTG 39642752 39642922 39642905 39642906 39642906 downstr_intron 17 1.53125 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCGTGGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG mutant NA NA NA NA NA 48 109 1 1 1 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 NA NA 0.00756093711777583 0.0795437002894306 0.960221508107338 0.956447681296397 NA 0.0435523187036032 NA FALSE NA 0 -2.376 rs56689202 intron_variant MODIFIER CACNA1I HGNC 1396 ENST00000401624 7/35 rs56689202 1 G:0.0048 G:0.0174 G:0.0014 NA G:0 G:0 G:0 G:0.0213 G:0 CCT C,G 0.001285 22:39642906 CACNA1I HGNC Symbol protein_coding 118984 ENSG00000100346 ENSE00003672143 intron_variant 1.467775 0.1646 0.03667 0.095506 0.741970984257301 0.097896 0.999998893513202 TRUE 0.00121899 ENSE00000654757_014 ENSE00000654757 014 22 40038758 40038927 + 44 93 33 G A 40038913 989 156 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTAGGCTCCTAGGTGTG 39642752 39642922 39642907 39642908 39642908 downstr_intron 19 1.59375 TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTAGGCTCCTAGGTGTG TGATGGGCCAGTCCTCTCGGCTCTCTCTCCTCTGCGCGCTGCAGGTGATCACTCTGGAAGGCTGGGTGGAGATCATGTACTACGTGATGGATGCTCACTCCTTCTACAACTTCATCTACTTCATCCTGCTTATCATAGTAAGTGTCAGGGAGCCTGGGCTCCTAGGTGTG mutant NA NA NA NA NA 815 164 0.989017458811297 0.976048400357731 0.982532929584514 0.993471465874422 0.926971550340254 0.992439062882224 0.920456299710569 NA NA -0.00342160407092729 0.0555921006471611 0.960221508107338 0.956447681296397 NA 0.0260852482881169 NA FALSE NA 0.004 0.221 . intron_variant MODIFIER CACNA1I HGNC 1396 ENST00000401624 7/35 1 NA TGG G,A 8.296e-06 22:39642908 CACNA1I HGNC Symbol protein_coding 118984 ENSG00000100346 ENSE00003672143 intron_variant 1.636437 0.21885 0.1147 0.095506 0.745892414135555 0.097896 0.999998893513202 TRUE NA ENSE00000654866_000 ENSE00000654866 000 22 40760235 40760404 + 45 90 35 NA NA NA NA NA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 NA NA NA NA NA NA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA natural NA NA NA NA NA 1415 321 0.957911000728771 0.971942371100205 0.964926685914488 NA NA 0.957911000728771 0.971942371100205 NA NA 0 0 NA 0.964926685914488 NA 0 NA FALSE NA NA NA NA NA NA ADSL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADSL NA NA NA ENSG00000239900 ENSE00000654866 NA NA NA NA NA NA NA 0.000212575309664513 FALSE NA ENSE00000654866_BRK ENSE00000654866 BRK 22 40760235 40760404 + 45 90 35 A,G; T,T NA NA NA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATTTGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGCCTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 NA NA NA NA NA NA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATTTGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGCCTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA control NA NA NA NA NA 88 762 0.0516620407458271 0 0.0258310203729136 NA NA 0.957911000728771 0.971942371100205 NA NA -0.906248959982944 -0.971942371100205 NA 0.964926685914488 NA -0.939095665541574 NA TRUE NA NA NA NA NA NA ADSL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADSL NA NA NA ENSG00000239900 ENSE00000654866 NA NA NA NA NA NA NA 0.000212575309664513 FALSE NA ENSE00000655095_000 ENSE00000655095 000 20 476325 476494 - 38 84 48 NA NA NA NA NA CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG 495680 495850 NA NA NA NA NA NA CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG natural 594 841 0.838846742619651 0.843638247233973 0.841242494926812 4563 4161 0.755808105083237 0.772356655112907 0.764082380098072 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 0 0 0 0 0.841242494926812 0.764082380098072 0 0 0 FALSE FALSE NA NA NA NA NA CSNK2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CSNK2A1 NA NA NA ENSG00000101266 ENSE00003601224 NA NA NA NA NA NA NA 0.999646697845993 TRUE NA ENSE00000655095_001 ENSE00000655095 001 20 476325 476494 - 38 84 48 A G 476336 30 159 CATGTAGATAAGTAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCTTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAG 495680 495850 495691 495692 495692 downstr_intron 27 1.72972972972973 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTACTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG mutant NA NA NA NA NA 449 193 0.813057578104207 0.897827766645563 0.855442672374885 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA 0.0572494730209702 0.125471111532655 0.841242494926812 0.764082380098072 NA 0.0913602922768128 NA FALSE NA 0.001 -0.006 . downstream_gene_variant MODIFIER CSNK2A1 HGNC 2457 ENST00000609606 1 NA AAT A,G 8.236e-06 20:495692 CSNK2A1 HGNC Symbol protein_coding 71337 ENSG00000101266 ENSE00003601224 intron_variant 0.381125 0.76955 0.34219 0.099367 0.771410941275509 0.0540496 0.999646697845993 TRUE 4.06547e-06 ENSE00000655095_002 ENSE00000655095 002 20 476325 476494 - 38 84 48 C T 476340 31 155 CATGTAGATAAATAATACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCTTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAG 495680 495850 495695 495696 495696 downstr_intron 23 1.62162162162162 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTATTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG mutant NA NA NA NA NA 764 356 0.913784749611293 0.908774282098101 0.911279515854697 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA 0.157976644528056 0.136417626985194 0.841242494926812 0.764082380098072 NA 0.147197135756625 NA FALSE NA 0 -0.341 . downstream_gene_variant MODIFIER CSNK2A1 HGNC 2457 ENST00000609606 rs370724657 1 NA T:0 T:0.0001 ACA C,T 1.647e-05 20:495696 CSNK2A1 HGNC Symbol protein_coding 71337 ENSG00000101266 ENSE00003601224 intron_variant 0.161936 0.20963 0.02455 0.099367 0.458299684062729 0.0540496 0.999646697845993 TRUE 1.21973e-05 ENSE00000655095_003 ENSE00000655095 003 20 476325 476494 - 38 84 48 T A 476346 32 149 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGTCAAGTGTTATTTATCTACATG 495680 495850 495701 495702 495702 downstr_intron 17 1.45945945945946 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGTCAAGTGTTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG mutant NA NA NA NA NA 1239 1482 0.952630075371992 0.963145021529588 0.95788754845079 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA 0.196821970288755 0.19078836641668 0.841242494926812 0.764082380098072 NA 0.193805168352718 NA FALSE NA 0 -1.034 . downstream_gene_variant MODIFIER CSNK2A1 HGNC 2457 ENST00000609606 1 NA GTC T,A 8.236e-06 20:495702 CSNK2A1 HGNC Symbol protein_coding 71337 ENSG00000101266 ENSE00003601224 intron_variant 0.164017 0.18512 0.03266 0.099367 0.360331299784747 0.0532412 0.999646697845993 TRUE 4.06425e-06 ENSE00000655095_004 ENSE00000655095 004 20 476325 476494 - 38 84 48 T C 476352 33 143 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATGGGCTGACAAGTGTTATTTATCTACATG 495680 495850 495707 495708 495708 downstr_intron 11 1.2972972972973 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATGGGCTGACAAGTGTTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG mutant NA NA NA NA NA 511 720 0.827091568277716 0.741130134950037 0.784110851613876 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA 0.0712834631944791 -0.0312265201628705 0.841242494926812 0.764082380098072 NA 0.0200284715158043 NA FALSE NA 0.171 1.387 . downstream_gene_variant MODIFIER CSNK2A1 HGNC 2457 ENST00000609606 1 NA CTA T,C 8.236e-06 20:495708 CSNK2A1 HGNC Symbol protein_coding 71337 ENSG00000101266 ENSE00003601224 intron_variant 0.188577 0.21375 0.03023 0.099367 0.641622249717715 0.204635 0.999646697845993 TRUE 8.12671e-06 ENSE00000655095_010 ENSE00000655095 010 20 476325 476494 - 38 84 48 C T 476459 39 36 CATGTAGATAAATAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCTTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAATGGGTCAGAAAGGAGTTAGCCTGAATAATACGTAAG 495680 495850 495814 495815 495815 upstr_intron -13 -0.25 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCATTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG mutant NA NA NA NA NA 255 1124 0.775368102358627 0.811247410044985 0.793307756201806 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA 0.0195599972753903 0.0388907549320783 0.841242494926812 0.764082380098072 NA 0.0292253761037343 NA FALSE NA 0 -2.271 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:495815 CSNK2A1 HGNC Symbol protein_coding 71337 ENSG00000101266 ENSE00003601224 intron_variant 0.543603 0.17849 0.05663 0.099367 0.585721265272473 0.198354 0.999646697845993 TRUE 2.84486e-05 ENSE00000655095_011 ENSE00000655095 011 20 476325 476494 - 38 84 48 C A 476459 40 36 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCTTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG 495680 495850 495814 495815 495815 upstr_intron -13 -0.25 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCTTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG mutant NA NA NA NA NA 2072 482 0.997957418978626 0.999592550187836 0.998774984583231 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA 0.24214931389539 0.227235895074928 0.841242494926812 0.764082380098072 NA 0.234692604485159 NA FALSE NA 0 -2.271 NA NA NA CSNK2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CSNK2A1 NA NA NA ENSG00000101266 ENSE00003601224 intron_variant 0.749494 0.17603 0.05741 0.099367 0.501511991077822 0.198354 0.999646697845993 TRUE 4.06408e-06 ENSE00000655095_012 ENSE00000655095 012 20 476325 476494 - 38 84 48 G A 476460 41 35 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCTGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG 495680 495850 495815 495816 495816 upstr_intron -14 -0.270833333333333 CTTACGTATTATTCAGGCTAACTCCTTTCTGACCTGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG mutant NA NA NA NA NA 510 1095 0.982233233388285 0.962863788150648 0.972548510769467 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA 0.226425128305048 0.190507133037741 0.841242494926812 0.764082380098072 NA 0.208466130671395 NA FALSE NA 0.001 0.318 . downstream_gene_variant MODIFIER CSNK2A1 HGNC 2457 ENST00000609606 1 NA CGG A,A 2.471e-05 20:495816 CSNK2A1 HGNC Symbol protein_coding 71337 ENSG00000101266 ENSE00003601224 intron_variant 0.53893 0.08418 8e-04 0.099367 0.320868009646116 0.230709 0.999646697845993 TRUE 2.43859e-05 ENSE00000655095_013 ENSE00000655095 013 20 476325 476494 - 38 84 48 A G 476469 42 26 CATGTAGATAAATAACACTTGTCAGCCTATCACTTTACCTTTCTGTGCTCATGATCAATCATGACATTATGGGGCTTGACATCTCTGTGCATAATTCCCATGCTGTGACAATAATCCAGGGCCTGTGGGATGAACGGGTCAGAAGGGAGTTAGCCTGAATAATACGTAAG 495680 495850 495824 495825 495825 upstr_intron -23 -0.458333333333333 CTTACGTATTATTCAGGCTAACTCCCTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG mutant NA NA NA NA NA 196 960 0.54805694807956 0.714395945319026 0.631226446699293 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA -0.207751157003677 -0.0579607097938812 0.841242494926812 0.764082380098072 NA -0.132855933398779 NA FALSE NA 0.042 0.158 rs41310171 downstream_gene_variant MODIFIER CSNK2A1 HGNC 2457 ENST00000609606 rs41310171 1 G:0.0042 G:0 G:0.0014 NA G:0 G:0.0149 G:0.0051 G:0.0011 G:0.0098 AAG A,G 0.00761 20:495825 CSNK2A1 HGNC Symbol protein_coding 71337 ENSG00000101266 ENSE00003601224 intron_variant 0.056246 0.25938 0.08616 0.099367 0.449566388931689 0.228884 0.999646697845993 TRUE 0.00808025 ENSE00000655095_BRK ENSE00000655095 BRK 20 476325 476494 - 38 84 48 A,G; T,T NA NA NA CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACTTGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGCCAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG 495680 495850 NA NA NA NA NA NA CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACTTGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGCCAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG CTTACGTATTATTCAGGCTAACTCCTTTCTGACCCGTTCATCCCACAGGCCCTGGATTATTGTCACAGCATGGGAATTATGCACAGAGATGTCAAGCCCCATAATGTCATGATTGATCATGAGCACAGAAAGGTAAAGTGATAGGCTGACAAGTGTTATTTATCTACATG control NA NA NA NA NA 73 213 0 0 0 0.838846742619651 0.843638247233973 0.755808105083237 0.772356655112907 NA NA -0.755808105083237 -0.772356655112907 0.841242494926812 0.764082380098072 NA -0.764082380098072 NA TRUE NA NA NA NA NA NA CSNK2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CSNK2A1 NA NA NA ENSG00000101266 ENSE00003601224 NA NA NA NA NA NA NA 0.999646697845993 TRUE NA ENSE00000655414_000 ENSE00000655414 000 19 2136971 2137140 - 39 81 50 NA NA NA NA NA TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 NA NA NA NA NA NA TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC natural 36 45 0.747041113481786 0.893027305492576 0.820034209487181 683 1405 0.977099595877968 0.959935699205351 0.96851764754166 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 0 0 0 0 0.820034209487181 0.96851764754166 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP3D1 NA NA NA ENSG00000065000 ENSE00003694224 NA NA NA NA NA NA NA 0.798002533603789 FALSE NA ENSE00000655414_001 ENSE00000655414 001 19 2136971 2137140 - 39 81 50 G T 2136987 87 154 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCAGCTCTGTGCTGAGTGC 2136971 2137141 2136987 2136988 2136988 downstr_intron 23 1.60526315789474 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCAGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 13 174 0.8 0.998230839392834 0.899115419696417 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA -0.177099595877968 0.0382951401874834 0.820034209487181 0.96851764754166 NA -0.0694022278452425 NA FALSE NA 0 -0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:2136988 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 intron_variant 0.16926 0.11557 0.00879 0.256867 0.487392769181599 0.0810139 0.798002533603789 FALSE 3.41542e-05 ENSE00000655414_002 ENSE00000655414 002 19 2136971 2137140 - 39 81 50 G A 2136987 88 154 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCTGCTCTGTGCTGAGTGC 2136971 2137141 2136987 2136988 2136988 downstr_intron 23 1.60526315789474 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCTGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant 23 25 0.85 0.85 0.85 290 302 0.970406812732926 0.975752624460607 0.973079718596766 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 0.102958886518214 -0.0430273054925763 -0.00669278314504218 0.0158169252552556 0.820034209487181 0.96851764754166 0.0299657905128187 0.0045620710551067 0.025403719457712 FALSE FALSE 0 -0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003694224 intron_variant 0.30534 0.13126 0.00619 0.256867 0.580179638320077 0.0810139 8.6570108559178e-06 FALSE 4.55389e-05 ENSE00000655414_003 ENSE00000655414 003 19 2136971 2137140 - 39 81 50 G C 2136987 89 154 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCGGCTCTGTGCTGAGTGC 2136971 2137141 2136987 2136988 2136988 downstr_intron 23 1.60526315789474 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCGGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 31 614 0.998664855361391 0.994019337819706 0.996342096590548 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA 0.0215652594834224 0.0340836386143547 0.820034209487181 0.96851764754166 NA 0.0278244490488885 NA FALSE NA 0 -0.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP3D1 NA NA NA ENSG00000065000 ENSE00003694224 intron_variant 0.01847 0.1418 0.02292 0.256867 0.336551485169666 0.0810139 0.798002533603789 FALSE 5.69236e-06 ENSE00000655414_005 ENSE00000655414 005 19 2136971 2137140 - 39 81 50 C T 2136992 91 149 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCAGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2136992 2136993 2136993 downstr_intron 18 1.47368421052632 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCAGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 208 239 0.949430545186942 0.975150789559519 0.962290667373231 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA -0.027669050691026 0.0152150903541679 0.820034209487181 0.96851764754166 NA -0.00622698016842904 NA FALSE NA 0.001 -1.077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:2136993 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 intron_variant 0.22786 0.0994 0.01135 0.256867 0.720687642126911 0.0810139 0.798002533603789 FALSE 0.0565621 ENSE00000655414_007 ENSE00000655414 007 19 2136971 2137140 - 39 81 50 C A 2136997 93 144 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCTGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2136997 2136998 2136998 downstr_intron 13 1.34210526315789 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCTGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 141 285 0.95 0.963780606519296 0.956890303259648 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA -0.0270995958779685 0.00384490731394493 0.820034209487181 0.96851764754166 NA -0.0116273442820118 NA FALSE NA 0 -1.332 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:2136998 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 intron_variant 0.131134 0.12397 0.02502 0.256867 0.542443153365865 0.101387 0.798002533603789 FALSE 0.000121676 ENSE00000655414_008 ENSE00000655414 008 19 2136971 2137140 - 39 81 50 C T 2136997 94 144 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCAGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2136997 2136998 2136998 downstr_intron 13 1.34210526315789 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCAGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 23 321 0.969659908169536 0.960126788478949 0.964893348324242 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA -0.0074396877084324 0.000191089273597567 0.820034209487181 0.96851764754166 NA -0.00362429921741741 NA FALSE NA 0 -1.332 NA NA NA AP3D1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP3D1 NA NA NA ENSG00000065000 ENSE00003694224 intron_variant -0.004182 0.12094 0.00641 0.256867 0.691553760435786 0.101387 0.798002533603789 FALSE 1.58708e-05 ENSE00000655414_009 ENSE00000655414 009 19 2136971 2137140 - 39 81 50 G A 2136998 95 143 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCTGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2136998 2136999 2136999 downstr_intron 12 1.31578947368421 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCTGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 792 94 0.997028454297797 0.983465661520427 0.990247057909112 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA 0.0199288584198287 0.023529962315076 0.820034209487181 0.96851764754166 NA 0.0217294103674524 NA FALSE NA 0 -0.489 . intron_variant MODIFIER AP3D1 HGNC 568 ENST00000356926 4/30 1 NA CGG G,A 3.336e-05 19:2136999 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 intron_variant 0.21122 0.1542 0.00885 0.256867 0.852705387722588 0.101387 0.798002533603789 FALSE NA ENSE00000655414_010 ENSE00000655414 010 19 2136971 2137140 - 39 81 50 G C 2137000 96 141 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTGCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137000 2137001 2137001 downstr_intron 10 1.26315789473684 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTGCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 34 146 0.996311242324662 0.981749904289034 0.989030573306848 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA 0.019211646446694 0.021814205083683 0.820034209487181 0.96851764754166 NA 0.0205129257651885 NA FALSE NA 0.009 0.31 rs61583847 intron_variant MODIFIER AP3D1 HGNC 568 ENST00000356926 4/30 rs61583847 1 C:0.1018 C:0.1271 C:0.0677 NA C:0.1468 C:0.0249 C:0.1247 C:0.1094 C:0.0176 GGA G,C 0.044 19:2137001 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 intron_variant -0.152766 0.23046 0.05751 0.256867 0.542502722964769 0.113155 0.798002533603789 FALSE 0.0523336 ENSE00000655414_011 ENSE00000655414 011 19 2136971 2137140 - 39 81 50 C A 2137003 97 138 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTTTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137003 2137004 2137004 downstr_intron 7 1.18421052631579 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTTTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 107 547 0.962481351237873 0.953732961078762 0.958107156158317 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA -0.0146182446400954 -0.00620273812658934 0.820034209487181 0.96851764754166 NA -0.0104104913833424 NA FALSE NA 0.004 -0.181 . splice_region_variant&intron_variant LOW AP3D1 HGNC 568 ENST00000356926 4/30 1 NA ACA C,A 8.326e-06 19:2137004 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 splice_region_variant 0.740537 0.19098 0.01769 0.256867 0.722193614355061 0.167016 0.798002533603789 FALSE NA ENSE00000655414_014 ENSE00000655414 014 19 2136971 2137140 - 39 81 50 G A 2137043 100 98 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGATGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137043 2137044 2137044 exon -34 0.592592592592593 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGATGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 524 91 0.965452600255406 0.946577909380865 0.956015254818135 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA -0.0116469956225627 -0.013357789824486 0.820034209487181 0.96851764754166 NA -0.0125023927235243 NA FALSE NA 0.886 0.068 . synonymous_variant LOW AP3D1 HGNC 568 ENST00000356926 4/31 1 NA CGT G,A 1.658e-05 19:2137044 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 synonymous_variant 1.653413 0.96688 0.67454 0.706548 0.698759363139326 0 0.798002533603789 FALSE NA ENSE00000655414_015 ENSE00000655414 015 19 2136971 2137140 - 39 81 50 C T 2137045 101 96 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCAACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137045 2137046 2137046 exon -36 0.567901234567901 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCAACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant 28 24 0.85 0.85 0.85 135 198 0.910991031739862 0.950990616017053 0.930990823878458 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 0.102958886518214 -0.0430273054925763 -0.0661085641381061 -0.00894508318829823 0.820034209487181 0.96851764754166 0.0299657905128187 -0.0375268236632021 0.0674926141760208 FALSE FALSE 1 7.501 . missense_variant MODERATE AP3D1 HGNC 568 ENST00000356926 4/31 1 benign(0.008) NA TCG C,T 8.293e-06 19:2137046 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 missense_variant 7.708363 0.99491 0.99114 0.706548 0.998719487951408 0 0.798002533603789 FALSE NA ENSE00000655414_016 ENSE00000655414 016 19 2136971 2137140 - 39 81 50 G A 2137055 102 86 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCATGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137055 2137056 2137056 exon 36 0.444444444444444 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCATGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant 19 23 0.85 0.85 0.85 NA NA NA NA NA 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 0.102958886518214 -0.0430273054925763 NA NA 0.820034209487181 0.96851764754166 0.0299657905128187 NA NA NA FALSE 0.624 -0.127 . synonymous_variant LOW AP3D1 HGNC 568 ENST00000356926 4/31 rs371510538 1 NA A:0.0002 A:0 CGT G,A 0.0001576 19:2137056 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 synonymous_variant 1.012191 0.74399 0.39417 0.706548 0.813823082055732 0 0.798002533603789 FALSE 0.000202956 ENSE00000655414_017 ENSE00000655414 017 19 2136971 2137140 - 39 81 50 C A 2137064 103 77 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCATAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137064 2137065 2137065 exon 27 0.333333333333333 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCATAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant 151 23 0 0.0577187743777833 0.0288593871888916 NA NA NA NA NA 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 -0.747041113481786 -0.835308531114793 NA NA 0.820034209487181 0.96851764754166 -0.79117482229829 NA NA NA TRUE 1 4.667 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:2137065 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 missense_variant 6.844411 0.99161 0.98439 0.706548 0.997177013996448 0 0.798002533603789 FALSE NA ENSE00000655414_018 ENSE00000655414 018 19 2136971 2137140 - 39 81 50 C T 2137064 104 77 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAAAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137064 2137065 2137065 exon 27 0.333333333333333 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAAAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 217 328 0.8 0.800440234454741 0.80022011722737 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA -0.177099595877968 -0.15949546475061 0.820034209487181 0.96851764754166 NA -0.168297530314289 NA FALSE NA 1 4.667 NA NA NA AP3D1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP3D1 NA NA NA ENSG00000065000 ENSE00003694224 synonymous_variant 1.805408 0.99076 0.97587 0.706548 0.848817613123127 0 0.798002533603789 FALSE NA ENSE00000655414_019 ENSE00000655414 019 19 2136971 2137140 - 39 81 50 C T 2137075 105 66 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCACTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137075 2137076 2137076 exon 16 0.197530864197531 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCACTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant 90 39 0.85 0.85 0.85 153 462 0.951186148162338 0.96085167401538 0.956018911088859 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 0.102958886518214 -0.0430273054925763 -0.0259134477156305 0.000915974810028586 0.820034209487181 0.96851764754166 0.0299657905128187 -0.012498736452801 0.0424645269656196 FALSE FALSE 1 7.501 rs140333505 missense_variant MODERATE AP3D1 HGNC 568 ENST00000356926 4/31 rs140333505 1 benign(0.33) T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 GCG C,T 1.662e-05 19:2137076 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 missense_variant 7.969087 0.99488 0.99114 0.706548 0.999057374596316 0 0.798002533603789 FALSE NA ENSE00000655414_020 ENSE00000655414 020 19 2136971 2137140 - 39 81 50 G A 2137093 106 48 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCTAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137093 2137094 2137094 upstr_intron -3 -0.04 TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCTAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 173 495 1 1 1 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA 0.0229004041220316 0.040064300794649 0.820034209487181 0.96851764754166 NA 0.0314823524583403 NA FALSE NA 1 3.874 . splice_region_variant&intron_variant LOW AP3D1 HGNC 568 ENST00000356926 3/30 1 NA TGG G,A 2.506e-05 19:2137094 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 splice_region_variant 1.391285 0.9909 0.97354 0.283894 0.879177724748639 0.968624 0.798002533603789 FALSE NA ENSE00000655414_022 ENSE00000655414 022 19 2136971 2137140 - 39 81 50 A T 2137111 108 30 TGGAGGCTGCGGGTGTCCTGCCTCTGATGAGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137111 2137112 2137112 upstr_intron -21 -0.4 TGGAGGCTGCGGGTGTCCTGCCTCTGATGAGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 167 593 0.996243907100746 0.973108836834881 0.984676371967814 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA 0.0191443112227776 0.0131731376295303 0.820034209487181 0.96851764754166 NA 0.016158724426154 NA FALSE NA 0 0.035 . intron_variant MODIFIER AP3D1 HGNC 568 ENST00000356926 3/30 1 NA CAC A,T 1.697e-05 19:2137112 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 intron_variant 0.036049 0.24323 0.14027 0.069865 0.522718921564796 0.0901013 0.798002533603789 FALSE 1.76001e-05 ENSE00000655414_024 ENSE00000655414 024 19 2136971 2137140 - 39 81 50 C T 2137130 110 11 TGGAGGCTGCAGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 2137130 2137131 2137131 upstr_intron -40 -0.78 TGGAGGCTGCAGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC mutant NA NA NA NA NA 206 644 0.990432426830346 0.983163112279657 0.986797769555001 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA 0.0133328309523775 0.0232274130743059 0.820034209487181 0.96851764754166 NA 0.0182801220133417 NA FALSE NA 0 -1.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:2137131 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003694224 intron_variant -0.45438 0.08362 0.00466 0.069865 0.606827064778191 0.0489247 0.798002533603789 FALSE 0.000124533 ENSE00000655414_BRK ENSE00000655414 BRK 19 2136971 2137140 - 39 81 50 A,G; T,T NA NA NA TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCTTCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGCCGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC 2136971 2137141 NA NA NA NA NA NA TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCTTCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGCCGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC TGGAGGCTGCGGGTGTCCTGCCTCTGATGTGCTCATCTGTTCTCTCCCAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGTGGGTGTTCCCGGGCCGGGGCCGCTCTGTGCTGAGTGC control NA NA NA NA NA 373 168 0 0 0 0.747041113481786 0.893027305492576 0.977099595877968 0.959935699205351 NA NA -0.977099595877968 -0.959935699205351 0.820034209487181 0.96851764754166 NA -0.96851764754166 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003694224 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00000655829_000 ENSE00000655829 000 22 41907836 41908005 + 44 93 33 NA NA NA NA NA GCCCTTGGGACGGCAGACTGAGCCCAGCTTTACCTGGTGAATGATTCCAGATCCAGGCTTCCAGAAGCCCACGCCATATTTGGCACCTGCAGTTGCCAGGAAATTATAAACTTCCTGGTTGATGTCCTATTGAGACAAATCAATAATTGGGCGTTAGCAACATGGTTTGT 41511831 41512001 NA NA NA NA NA NA ACAAACCATGTTGCTAACGCCCAATTATTGATTTGTCTCAATAGGACATCAACCAGGAAGTTTATAATTTCCTGGCAACTGCAGGTGCCAAATATGGCGTGGGCTTCTGGAAGCCTGGATCTGGAATCATTCACCAGGTAAAGCTGGGCTCAGTCTGCCGTCCCAAGGGC ACAAACCATGTTGCTAACGCCCAATTATTGATTTGTCTCAATAGGACATCAACCAGGAAGTTTATAATTTCCTGGCAACTGCAGGTGCCAAATATGGCGTGGGCTTCTGGAAGCCTGGATCTGGAATCATTCACCAGGTAAAGCTGGGCTCAGTCTGCCGTCCCAAGGGC natural 92 70 0.85 0.85 0.85 354 1277 0.945851670178498 0.760619932438283 0.85323580130839 0.85 0.85 0.945851670178498 0.760619932438283 0 0 0 0 0.85 0.85323580130839 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003535455 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00000656890_000 ENSE00000656890 000 14 50801232 50801401 - 51 57 62 NA NA NA NA NA TGATGACAACTGCTGTGTGCTTCCTGGTCTGTTGGAAGCCATGATTTTTACCTTTAGGAGCCCCAGGGCAGGATAAGAGATGTTTGGGAATTTTAATTCAAGTGGTTCCTGTTGAAAAGAAAAGAGGTTTTTAATTTACAGCATGTATTCAAATTAAGGTTACCTCAAAT 50334513 50334683 NA NA NA NA NA NA ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA natural NA NA NA NA NA 1296 1839 0.992956256432714 0.974093346481941 0.983524801457328 NA NA 0.992956256432714 0.974093346481941 NA NA 0 0 NA 0.983524801457328 NA 0 NA FALSE NA NA NA NA NA NA ATP5S NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP5S NA NA NA ENSG00000125375 ENSE00000656890 NA NA NA NA NA NA NA 6.3043463659782e-05 FALSE NA ENSE00000657431_000 ENSE00000657431 000 14 53149005 53149174 - 38 84 48 NA NA NA NA NA TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 NA NA NA NA NA NA TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT natural NA NA NA NA NA 6486 5865 0.969101656035399 0.99066825208853 0.979884954061965 NA NA 0.969101656035399 0.99066825208853 NA NA 0 0 NA 0.979884954061965 NA 0 NA FALSE NA NA NA NA NA NA ERO1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERO1A NA NA NA ENSG00000197930 ENSE00000657431 NA NA NA NA NA NA NA NA NA NA ENSE00000657431_001 ENSE00000657431 001 14 53149005 53149174 - 38 84 48 T A 53149027 428 148 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATTCATTTAAAAACTGTTACATGTT 52682286 52682456 52682308 52682309 52682309 downstr_intron 16 1.43243243243243 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATTCATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 257 250 0.99887366628462 1 0.99943683314231 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0297720102492206 0.00933174791146996 NA 0.979884954061965 NA 0.0195518790803453 NA FALSE NA 0 0.044 . intron_variant&NMD_transcript_variant MODIFIER ERO1L HGNC 13280 ENST00000556223 3/4 1 NA GTA T,A 3.295e-05 14:52682309 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 intron_variant 0.08236 0.18646 0.00928 0.322412 0.546092177943916 0.0532412 NA NA 3.92927e-05 ENSE00000657431_002 ENSE00000657431 002 14 53149005 53149174 - 38 84 48 A T 53149032 429 143 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCAAGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682313 52682314 52682314 downstr_intron 11 1.2972972972973 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCAAGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 664 869 0.996986071509576 0.997012475656985 0.99699927358328 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0278844154741766 0.00634422356845465 NA 0.979884954061965 NA 0.0171143195213156 NA FALSE NA 0 0.022 . intron_variant&NMD_transcript_variant MODIFIER ERO1L HGNC 13280 ENST00000556223 3/4 1 NA CAT A,T 8.237e-06 14:52682314 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 intron_variant -0.47259 0.19413 0.00868 0.322412 0.335847518991779 0.0532412 NA NA 1.26911e-05 ENSE00000657431_004 ENSE00000657431 004 14 53149005 53149174 - 38 84 48 A C 53149061 431 114 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCGGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682342 52682343 52682343 exon -19 0.785714285714286 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCGGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 275 284 1 0.999308034141901 0.999654017070951 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0308983439646007 0.00863978205337135 NA 0.979884954061965 NA 0.019769063008986 NA FALSE NA 0.997 0.707 . synonymous_variant&NMD_transcript_variant LOW ERO1L HGNC 13280 ENST00000556223 3/5 1 NA CAG A,C 8.236e-06 14:52682343 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 synonymous_variant -0.171359 0.96631 0.7923 0.732398 0.619667468425041 0 NA NA 4.06871e-06 ENSE00000657431_005 ENSE00000657431 005 14 53149005 53149174 - 38 84 48 A G 53149081 432 94 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGCGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682362 52682363 52682363 exon -39 0.547619047619048 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGCGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 654 2841 0.999242435050747 0.992875164516914 0.99605879978383 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0301407790153473 0.00220691242838433 NA 0.979884954061965 NA 0.0161738457218658 NA FALSE NA 1 8.381 . missense_variant&NMD_transcript_variant MODERATE ERO1L HGNC 13280 ENST00000556223 3/5 1 deleterious(0) probably_damaging(0.998) NA CAC A,G 1.647e-05 14:52682363 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 missense_variant 5.668061 0.98926 0.98334 0.732398 0.997545662246045 0 NA NA 1.62565e-05 ENSE00000657431_008 ENSE00000657431 008 14 53149005 53149174 - 38 84 48 G A 53149105 435 70 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTTCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682386 52682387 52682387 exon 22 0.261904761904762 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTTCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 645 57 0.992528003720777 1 0.996264001860389 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0234263476853779 0.00933174791146996 NA 0.979884954061965 NA 0.0163790477984239 NA FALSE NA 1 8.847 rs144651191 missense_variant&NMD_transcript_variant MODERATE ERO1L HGNC 13280 ENST00000556223 3/5 1 deleterious(0) probably_damaging(0.996) NA GGA G,A 8.237e-06 14:52682387 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 missense_variant 6.008972 0.99156 0.98335 0.732398 0.998877448602226 0 NA NA NA ENSE00000657431_010 ENSE00000657431 010 14 53149005 53149174 - 38 84 48 G A 53149110 437 65 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCTGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682391 52682392 52682392 exon 17 0.202380952380952 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCTGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 252 412 0.967051703589789 0.996796249365941 0.981923976477865 NA NA 0.969101656035399 0.99066825208853 NA NA -0.00204995244561046 0.0061279972774112 NA 0.979884954061965 NA 0.00203902241590037 NA FALSE NA 1 6.67 . missense_variant&NMD_transcript_variant MODERATE ERO1L HGNC 13280 ENST00000556223 3/5 COSM3886113 1 deleterious(0) probably_damaging(0.91) NA CGG G,A 1.647e-05 14:52682392 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 missense_variant 6.360395 0.98345 0.95545 0.732398 0.997845006630292 0 NA NA 1.22207e-05 ENSE00000657431_011 ENSE00000657431 011 14 53149005 53149174 - 38 84 48 A G 53149133 438 42 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATCTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682414 52682415 52682415 upstr_intron -7 -0.125 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATCTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 722 924 0.997870701438681 0.850689887798498 0.92428029461859 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0287690454032817 -0.139978364290032 NA 0.979884954061965 NA -0.055604659443375 NA FALSE NA 0.997 2.298 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ERO1L HGNC 13280 ENST00000556223 2/4 1 NA AAA A,G 8.244e-06 14:52682415 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 splice_region_variant 0.008147 0.31917 0.23838 0.088506 0.695688829025244 0.0813549 NA NA 1.7472e-05 ENSE00000657431_012 ENSE00000657431 012 14 53149005 53149174 - 38 84 48 T C 53149135 439 40 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTGTTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682416 52682417 52682417 upstr_intron -9 -0.166666666666667 TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTGTTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 70 458 0.987615875709703 0.989164658489249 0.988390267099476 NA NA 0.969101656035399 0.99066825208853 NA NA 0.018514219674304 -0.00150359359928076 NA 0.979884954061965 NA 0.00850531303751162 NA FALSE NA 0.993 0.115 . intron_variant&NMD_transcript_variant MODIFIER ERO1L HGNC 13280 ENST00000556223 2/4 rs369600373 1 NA C:0.0002 C:0 ATA T,C 8.247e-06 14:52682417 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 intron_variant 0.123122 0.21792 0.22302 0.088506 0.614346256328922 0.0788629 NA NA 1.30989e-05 ENSE00000657431_013 ENSE00000657431 013 14 53149005 53149174 - 38 84 48 A G 53149142 440 33 TTTTGGGATTCTGATTTTTATAATTTTTTTTCCATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682423 52682424 52682424 upstr_intron -16 -0.3125 TTTTGGGATTCTGATTTTTATAATTTTTTTTCCATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant 18 20 0.627994498627046 0.716053447293385 0.672023972960216 678 192 0.996987272807567 1 0.998493636403784 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0278856167721677 0.00933174791146996 NA 0.979884954061965 NA 0.0186086823418188 NA FALSE NA 0.008 1.768 . intron_variant&NMD_transcript_variant MODIFIER ERO1L HGNC 13280 ENST00000556223 2/4 1 NA TAG A,G 1.651e-05 14:52682424 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 intron_variant -0.613455 0.19622 0.07806 0.088506 0.464851334874313 0.046323 NA NA 1.81146e-05 ENSE00000657431_014 ENSE00000657431 014 14 53149005 53149174 - 38 84 48 A C 53149149 441 26 TTTTGGGATTCTGATTTTTATAATTGTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682430 52682431 52682431 upstr_intron -23 -0.458333333333333 TTTTGGGATTCTGATTTTTATAATTGTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 813 424 0.999594341696119 1 0.99979717084806 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0304926856607201 0.00933174791146996 NA 0.979884954061965 NA 0.019912216786095 NA FALSE NA 0.017 2.059 . intron_variant&NMD_transcript_variant MODIFIER ERO1L HGNC 13280 ENST00000556223 2/4 1 NA AAA A,C 8.293e-06 14:52682431 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 intron_variant -0.412576 0.21017 0.21751 0.088506 0.610682095120585 0.046323 NA NA 4.79019e-06 ENSE00000657431_015 ENSE00000657431 015 14 53149005 53149174 - 38 84 48 T A 53149155 442 20 TTTTGGGATTCTGATTTTTTTAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682436 52682437 52682437 upstr_intron -29 -0.583333333333333 TTTTGGGATTCTGATTTTTTTAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 1554 201 0.99868519470817 1 0.999342597354085 NA NA 0.969101656035399 0.99066825208853 NA NA 0.0295835386727707 0.00933174791146996 NA 0.979884954061965 NA 0.0194576432921204 NA FALSE NA 0.05 0.087 . intron_variant&NMD_transcript_variant MODIFIER ERO1L HGNC 13280 ENST00000556223 2/4 1 NA ATA T,A 8.304e-06 14:52682437 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 intron_variant 0.406981 0.29642 0.02807 0.088506 0.766639045474111 0.046323 NA NA 9.60292e-06 ENSE00000657431_016 ENSE00000657431 016 14 53149005 53149174 - 38 84 48 G A 53149164 443 11 TTTTGGGATTTTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 52682445 52682446 52682446 upstr_intron -38 -0.770833333333333 TTTTGGGATTTTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT mutant NA NA NA NA NA 1889 1252 0.953552352451519 0.994913228588811 0.974232790520165 NA NA 0.969101656035399 0.99066825208853 NA NA -0.0155493035838803 0.00424497650028133 NA 0.979884954061965 NA -0.00565216354179948 NA FALSE NA 0 0.001 . intron_variant&NMD_transcript_variant MODIFIER ERO1L HGNC 13280 ENST00000556223 2/4 1 NA AGA G,A 1e-04 14:52682446 ERO1A HGNC Symbol protein_coding 55984 ENSG00000197930 ENSE00000657431 intron_variant 0.286704 0.14275 0.01407 0.088506 0.703041113848128 0.046323 NA NA 0.000106688 ENSE00000657431_BRK ENSE00000657431 BRK 14 53149005 53149174 - 38 84 48 A,G; T,T NA NA NA TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACTTGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTCCAAGAACCATGTATACATTTAAAAACTGTTACATGTT 52682286 52682456 NA NA NA NA NA NA TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACTTGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTCCAAGAACCATGTATACATTTAAAAACTGTTACATGTT TTTTGGGATTCTGATTTTTATAATTTTTTTTCTATTATTATTTTACAGGTAAACCTGAAGAGGCCGTGTCCTTTCTGGAATGACATCAGCCAGTGTGGAAGAAGGGACTGTGCTGTCAAACCATGTCAATCTGTAAGAACCATGTATACATTTAAAAACTGTTACATGTT control NA NA NA NA NA 230 730 0 0.109846154652666 0.0549230773263329 NA NA 0.969101656035399 0.99066825208853 NA NA -0.969101656035399 -0.880822097435864 NA 0.979884954061965 NA -0.924961876735632 NA TRUE NA NA NA NA NA NA ERO1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERO1A NA NA NA ENSG00000197930 ENSE00000657431 NA NA NA NA NA NA NA NA NA NA ENSE00000658029_000 ENSE00000658029 000 14 58730366 58730535 + 57 66 47 NA NA NA NA NA TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 NA NA NA NA NA NA TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG natural 24 29 0.982085740658382 0.850161706215178 0.91612372343678 413 1312 0.902125931524278 0.974695218219222 0.93841057487175 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 0 0 0 0 0.91612372343678 0.93841057487175 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMA3 NA NA NA ENSG00000100567 ENSE00003574077 NA NA NA NA NA NA NA 0.99028192222966 TRUE NA ENSE00000658029_BRK ENSE00000658029 BRK 14 58730366 58730535 + 57 66 47 A,G; T,T NA NA NA TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATTTGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGCCAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 NA NA NA NA NA NA TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATTTGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGCCAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG control NA NA NA NA NA 571 1087 0.0302284030094976 0.000294273493376033 0.0152613382514368 0.982085740658382 0.850161706215178 0.902125931524278 0.974695218219222 NA NA -0.87189752851478 -0.974400944725846 0.91612372343678 0.93841057487175 NA -0.923149236620313 NA TRUE NA NA NA NA NA NA RP11-349A22.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMA3 NA NA NA ENSG00000100567 ENSE00003574077 NA NA NA NA NA NA NA 0.99028192222966 TRUE NA ENSE00000658402_000 ENSE00000658402 000 14 64877748 64877917 + 60 60 50 NA NA NA NA NA GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC 64411029 64411199 NA NA NA NA NA NA GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC natural 136 182 0.997481105696335 0.989861172246815 0.993671138971575 1483 2577 0.952747699955408 0.971075081047277 0.961911390501342 0.997481105696335 0.989861172246815 0.952747699955408 0.971075081047277 0 0 0 0 0.993671138971575 0.961911390501342 0 0 0 FALSE FALSE NA NA NA NA NA MTHFD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTHFD1 NA NA NA ENSG00000100714 ENSE00003597105 NA NA NA NA NA NA NA 0.605609113854515 FALSE NA ENSE00000658402_003 ENSE00000658402 003 14 64877748 64877917 + 60 60 50 C G 64877772 589 25 GCTTTTCTGTGCACTTTGCCTTTCGCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC 64411029 64411199 64411053 64411054 64411054 upstr_intron -36 -0.583333333333333 GCTTTTCTGTGCACTTTGCCTTTCGCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC mutant 10 18 1 1 1 NA NA NA NA NA 0.997481105696335 0.989861172246815 0.952747699955408 0.971075081047277 0.00251889430366481 0.0101388277531846 NA NA 0.993671138971575 0.961911390501342 0.00632886102842473 NA NA NA FALSE 0.001 -0.842 . intron_variant MODIFIER MTHFD1 HGNC 7432 ENST00000216605 2/27 1 NA CCC C,G 8.236e-06 14:64411054 MTHFD1 HGNC Symbol protein_coding 75426 ENSG00000100714 ENSE00003597105 intron_variant 1.189834 0.20621 0.07316 0.295142 0.625549206078435 0.388504 0.605609113854515 FALSE 4.07359e-06 ENSE00000658402_006 ENSE00000658402 006 14 64877748 64877917 + 60 60 50 C G 64877781 592 34 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATGTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC 64411029 64411199 64411062 64411063 64411063 upstr_intron -27 -0.433333333333333 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATGTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC mutant NA NA NA NA NA 72 115 1 1 1 0.997481105696335 0.989861172246815 0.952747699955408 0.971075081047277 NA NA 0.0472523000445918 0.0289249189527234 0.993671138971575 0.961911390501342 NA 0.0380886094986576 NA FALSE NA 0.998 2.034 NA NA NA MTHFD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64411063 MTHFD1 HGNC Symbol protein_coding 75426 ENSG00000100714 ENSE00003597105 intron_variant 2.028643 0.98252 0.93754 0.295142 0.785360286364038 0.98516 0.605609113854515 FALSE 2.84886e-05 ENSE00000658402_008 ENSE00000658402 008 14 64877748 64877917 + 60 60 50 T C 64877785 594 38 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGACTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC 64411029 64411199 64411066 64411067 64411067 upstr_intron -23 -0.366666666666667 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGACTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC mutant NA NA NA NA NA 16 49 1 1 1 0.997481105696335 0.989861172246815 0.952747699955408 0.971075081047277 NA NA 0.0472523000445918 0.0289249189527234 0.993671138971575 0.961911390501342 NA 0.0380886094986576 NA FALSE NA 1 1.239 rs192490131 intron_variant MODIFIER MTHFD1 HGNC 7432 ENST00000216605 2/27 rs192490131 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATT T,C 1.647e-05 14:64411067 MTHFD1 HGNC Symbol protein_coding 75426 ENSG00000100714 ENSE00003597105 intron_variant 2.32914 0.97139 0.81814 0.295142 0.905653967575922 0.625443 0.605609113854515 FALSE 8.13782e-06 ENSE00000658402_011 ENSE00000658402 011 14 64877748 64877917 + 60 60 50 C T 64877813 597 66 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGTAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC 64411029 64411199 64411094 64411095 64411095 exon 6 0.1 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGTAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC mutant 83 29 0.85 0.85 0.85 540 30 0.803393737155457 0.816569170233945 0.809981453694701 0.997481105696335 0.989861172246815 0.952747699955408 0.971075081047277 -0.147481105696335 -0.139861172246815 -0.149353962799951 -0.154505910813331 0.993671138971575 0.961911390501342 -0.143671138971575 -0.151929936806641 0.00825879783506583 FALSE FALSE 0.989 0.385 . synonymous_variant LOW MTHFD1 HGNC 7432 ENST00000216605 3/28 1 NA GCA C,T 8.236e-06 14:64411095 MTHFD1 HGNC Symbol protein_coding 75426 ENSG00000100714 ENSE00003597105 synonymous_variant 2.185978 0.97412 0.74325 0.732398 0.669329090516229 0 0.605609113854515 FALSE NA ENSE00000658402_019 ENSE00000658402 019 14 64877748 64877917 + 60 60 50 G C 64877885 605 138 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTCTGCCATCACCCTCCCCAACCTCCACCTGGGTC 64411029 64411199 64411166 64411167 64411167 downstr_intron 18 1.36734693877551 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTCTGCCATCACCCTCCCCAACCTCCACCTGGGTC GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC mutant 28 26 0.983762330440502 1 0.991881165220251 NA NA NA NA NA 0.997481105696335 0.989861172246815 0.952747699955408 0.971075081047277 -0.0137187752558335 0.0101388277531846 NA NA 0.993671138971575 0.961911390501342 -0.00178997375132445 NA NA NA FALSE 0 -0.83 . intron_variant MODIFIER MTHFD1 HGNC 7432 ENST00000216605 3/27 1 NA TGT G,C 8.236e-06 14:64411167 MTHFD1 HGNC Symbol protein_coding 75426 ENSG00000100714 ENSE00003597105 intron_variant -0.526345 0.1972 0.08855 0.088506 0.297131881573477 0.153832 0.605609113854515 FALSE 4.09098e-06 ENSE00000658402_020 ENSE00000658402 020 14 64877748 64877917 + 60 60 50 A G 64877890 606 143 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCGTCACCCTCCCCAACCTCCACCTGGGTC 64411029 64411199 64411171 64411172 64411172 downstr_intron 23 1.46938775510204 GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCGTCACCCTCCCCAACCTCCACCTGGGTC GCTTTTCTGTGCACTTTGCCTTTCCCTAATCATCTGATTTGCATGCATTTATTATTCTAGGTTGGCAACAGAGATGATTCCAATCTTTATATAAATGTGAAGCTGAAGGCTGCTGAAGAGGTAACGCCAGAAGAGCTGTGCCATCACCCTCCCCAACCTCCACCTGGGTC mutant NA NA NA NA NA 49 45 1 1 1 0.997481105696335 0.989861172246815 0.952747699955408 0.971075081047277 NA NA 0.0472523000445918 0.0289249189527234 0.993671138971575 0.961911390501342 NA 0.0380886094986576 NA FALSE NA 0 -0.78 . intron_variant MODIFIER MTHFD1 HGNC 7432 ENST00000216605 3/27 1 NA CAT A,G 2.471e-05 14:64411172 MTHFD1 HGNC Symbol protein_coding 75426 ENSG00000100714 ENSE00003597105 intron_variant -0.178592 0.05898 0.00558 0.088506 0.427772705052215 0.153832 0.605609113854515 FALSE 1.22802e-05 ENSE00000658419_000 ENSE00000658419 000 14 64908047 64908216 + 56 69 45 NA NA NA NA NA AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 NA NA NA NA NA NA AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC natural 762 1207 0.849280340182086 0.85 0.849640170091043 5430 5183 0.941717266476966 0.889927199430457 0.915822232953712 0.849280340182086 0.85 0.941717266476966 0.889927199430457 0 0 0 0 0.849640170091043 0.915822232953712 0 0 0 FALSE FALSE NA NA NA NA NA CTD-2555O16.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AL122035.1 NA NA NA ENSG00000258824 ENSE00003595047 NA NA NA NA NA NA NA NA NA NA ENSE00000658419_BRK ENSE00000658419 BRK 14 64908047 64908216 + 56 69 45 A,G; T,T NA NA NA AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTTTGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGCCGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 NA NA NA NA NA NA AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTTTGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGCCGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC control 148 98 0 0 0 1312 510 0.231901484377996 0.194009301750092 0.212955393064044 0.849280340182086 0.85 0.941717266476966 0.889927199430457 -0.849280340182086 -0.85 -0.70981578209897 -0.695917897680366 0.849640170091043 0.915822232953712 -0.849640170091043 -0.702866839889668 0.146773330201375 TRUE TRUE NA NA NA NA NA CTD-2555O16.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AL122035.1 NA NA NA ENSG00000258824 ENSE00003595047 NA NA NA NA NA NA NA NA NA NA ENSE00000658636_000 ENSE00000658636 000 14 68052238 68052407 + 47 87 36 NA NA NA NA NA AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 NA NA NA NA NA NA AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT natural 23 50 0.973448132432746 0.812138405909487 0.892793269171117 2928 2380 0.950404961358509 0.956146816297027 0.953275888827768 0.973448132432746 0.812138405909487 0.950404961358509 0.956146816297027 0 0 0 0 0.892793269171117 0.953275888827768 0 0 0 FALSE FALSE NA NA NA NA NA PIGH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIGH NA NA NA ENSG00000100564 ENSE00003542998 NA NA NA NA NA NA NA 0.0698815809187974 FALSE NA ENSE00000658639_000 ENSE00000658639 000 14 68059314 68059483 - 38 84 48 NA NA NA NA NA CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC 67592596 67592766 NA NA NA NA NA NA CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC natural 36 61 0.978082923710891 0.952434849126834 0.965258886418863 2018 696 0.998597749322794 0.989419816710105 0.994008783016449 0.978082923710891 0.952434849126834 0.998597749322794 0.989419816710105 0 0 0 0 0.965258886418863 0.994008783016449 0 0 0 FALSE FALSE NA NA NA NA NA PIGH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIGH NA NA NA ENSG00000100564 ENSE00003467918 NA NA NA NA NA NA NA 0.0698815809187974 FALSE NA ENSE00000658639_003 ENSE00000658639 003 14 68059314 68059483 - 38 84 48 A G 68059334 821 150 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTCTACCATTCTCCAATTACTCC 67592596 67592766 67592616 67592617 67592617 downstr_intron 18 1.48648648648649 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTCTACCATTCTCCAATTACTCC CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC mutant NA NA NA NA NA 185 163 1 0.998348726459409 0.999174363229704 0.978082923710891 0.952434849126834 0.998597749322794 0.989419816710105 NA NA 0.00140225067720623 0.00892890974930372 0.965258886418863 0.994008783016449 NA 0.00516558021325497 NA FALSE NA 0 -0.346 . intron_variant MODIFIER PIGH HGNC 8964 ENST00000558493 2/2 1 NA AAA A,G 8.237e-06 14:67592617 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003467918 intron_variant 0.086264 0.23933 0.05383 0.099367 0.640225871649464 0.125135 0.0698815809187974 FALSE 8.23513e-06 ENSE00000658639_007 ENSE00000658639 007 14 68059314 68059483 - 38 84 48 C T 68059360 825 124 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCATCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC 67592596 67592766 67592642 67592643 67592643 exon -9 0.904761904761905 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCATCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC mutant NA NA NA NA NA 413 1466 1 1 1 0.978082923710891 0.952434849126834 0.998597749322794 0.989419816710105 NA NA 0.00140225067720623 0.0105801832898951 0.965258886418863 0.994008783016449 NA 0.00599121698355065 NA FALSE NA 0.75 1.248 rs138073444 intron_variant MODIFIER PIGH HGNC 8964 ENST00000558493 2/2 rs138073444 1 T:0.0008 T:0.0015 T:0.0014 NA T:0 T:0.001 T:0 ACG C,T 0.0002306 14:67592643 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003467918 missense_variant 2.16563 0.62857 0.43302 0.562547 0.833856406477657 0 0.0698815809187974 FALSE 0.000289031 ENSE00000658639_010 ENSE00000658639 010 14 68059314 68059483 - 38 84 48 A G 68059382 828 102 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACACGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC 67592596 67592766 67592664 67592665 67592665 exon -31 0.642857142857143 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACACGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC mutant NA NA NA NA NA 285 1610 0.992852230103808 0.998871690196934 0.995861960150371 0.978082923710891 0.952434849126834 0.998597749322794 0.989419816710105 NA NA -0.00574551921898592 0.00945187348682941 0.965258886418863 0.994008783016449 NA 0.00185317713392175 NA FALSE NA 0 -1.333 . intron_variant MODIFIER PIGH HGNC 8964 ENST00000558493 2/2 1 NA CAT A,G 1.647e-05 14:67592665 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003467918 synonymous_variant 0.640127 0.18554 0.05986 0.562547 0.671339129627797 0 0.0698815809187974 FALSE 3.25407e-05 ENSE00000658639_017 ENSE00000658639 017 14 68059314 68059483 - 38 84 48 T G 68059411 835 73 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCCTCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC 67592596 67592766 67592693 67592694 67592694 exon 25 0.297619047619048 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCCTCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC mutant NA NA NA NA NA 90 34 0.9740811155768 1 0.9870405577884 0.978082923710891 0.952434849126834 0.998597749322794 0.989419816710105 NA NA -0.0245166337459933 0.0105801832898951 0.965258886418863 0.994008783016449 NA -0.00696822522804913 NA FALSE NA 1 5.635 . intron_variant MODIFIER PIGH HGNC 8964 ENST00000558493 2/2 rs200240316 1 NA ATG T,G 1.647e-05 14:67592694 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003467918 missense_variant 6.413621 0.98805 0.96374 0.732398 0.993796859431006 0 0.0698815809187974 FALSE 4.07707e-06 ENSE00000658639_020 ENSE00000658639 020 14 68059314 68059483 - 38 84 48 C G 68059433 838 51 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCACAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC 67592596 67592766 67592715 67592716 67592716 exon 3 0.0357142857142857 CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCACAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC mutant NA NA NA NA NA 181 210 1 1 1 0.978082923710891 0.952434849126834 0.998597749322794 0.989419816710105 NA NA 0.00140225067720623 0.0105801832898951 0.965258886418863 0.994008783016449 NA 0.00599121698355065 NA FALSE NA 0.999 0.513 NA NA NA PIGH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:67592716 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003467918 splice_acceptor_variant 1.547932 0.97423 0.79997 0.732398 0.870102306154786 0 0.0698815809187974 FALSE 4.12042e-06 ENSE00000658639_024 ENSE00000658639 024 14 68059314 68059483 - 38 84 48 T G 68059470 842 14 CAAAATGAGTTTCCCTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC 67592596 67592766 67592752 67592753 67592753 upstr_intron -35 -0.708333333333333 CAAAATGAGTTTCCCTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC mutant NA NA NA NA NA 12 46 1 1 1 0.978082923710891 0.952434849126834 0.998597749322794 0.989419816710105 NA NA 0.00140225067720623 0.0105801832898951 0.965258886418863 0.994008783016449 NA 0.00599121698355065 NA FALSE NA 0.138 1.088 . intron_variant MODIFIER PIGH HGNC 8964 ENST00000558493 2/2 1 NA GTG T,G 8.252e-06 14:67592753 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003467918 non_coding_transcript_exon_variant 2.087658 0.67873 0.60257 0.163922 0.795666708691823 0.263149 0.0698815809187974 FALSE 4.71778e-06 ENSE00000658639_BRK ENSE00000658639 BRK 14 68059314 68059483 - 38 84 48 A,G; T,T NA NA NA CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACTTCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGCCGAGCATAGAATACTTTTACCATTCTCCAATTACTCC 67592596 67592766 NA NA NA NA NA NA CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACTTCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGCCGAGCATAGAATACTTTTACCATTCTCCAATTACTCC CAAAATGAGTTTCACTTAGACTTTGCTATTTGATTTATTTTCTTACAGCAGAAGGTGATTTACTACCTCTGCATCTTATTGAAAGATCCAGTGGAACCACATGGGATATCCCAAGTAGTACCCGTCTTCCAGGTGAGCATAGAATACTTTTACCATTCTCCAATTACTCC control 28 22 0 0 0 NA NA NA NA NA 0.978082923710891 0.952434849126834 0.998597749322794 0.989419816710105 -0.978082923710891 -0.952434849126834 NA NA 0.965258886418863 0.994008783016449 -0.965258886418863 NA NA NA TRUE NA NA NA NA NA PIGH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIGH NA NA NA ENSG00000100564 ENSE00003467918 NA NA NA NA NA NA NA 0.0698815809187974 FALSE NA ENSE00000658753_000 ENSE00000658753 000 14 69360339 69360508 - 33 93 44 NA NA NA NA NA CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT 68893621 68893791 NA NA NA NA NA NA CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT natural NA NA NA NA NA 275 1013 0.978118399008141 0.937530768326267 0.957824583667204 NA NA 0.978118399008141 0.937530768326267 NA NA 0 0 NA 0.957824583667204 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACTN1 NA NA NA ENSG00000072110 ENSE00000658753 NA NA NA NA NA NA NA 0.999930573576069 TRUE NA ENSE00000658753_004 ENSE00000658753 004 14 69360339 69360508 - 33 93 44 G A 69360360 875 149 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCTGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893642 68893643 68893643 downstr_intron 12 1.375 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCTGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 132 387 1 1 1 NA NA 0.978118399008141 0.937530768326267 NA NA 0.0218816009918587 0.0624692316737333 NA 0.957824583667204 NA 0.042175416332796 NA FALSE NA 0.632 0.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:68893643 ACTN1 HGNC Symbol protein_coding 105297 ENSG00000072110 ENSE00000658753 intron_variant 0.325576 0.20144 0.0902 0.099367 0.697669113008435 0.0612857 0.999930573576069 TRUE 0.0259905 ENSE00000658753_005 ENSE00000658753 005 14 69360339 69360508 - 33 93 44 G C 69360360 876 149 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCGGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893642 68893643 68893643 downstr_intron 12 1.375 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCGGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 58 23 1 1 1 NA NA 0.978118399008141 0.937530768326267 NA NA 0.0218816009918587 0.0624692316737333 NA 0.957824583667204 NA 0.042175416332796 NA FALSE NA 0.632 0.41 NA NA NA ACTN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACTN1 NA NA NA ENSG00000072110 ENSE00000658753 intron_variant 0.021533 0.21402 0.10637 0.099367 0.632866176675404 0.0612857 0.999930573576069 TRUE 1.71102e-05 ENSE00000658753_006 ENSE00000658753 006 14 69360339 69360508 - 33 93 44 G T 69360364 877 145 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTAACCCCGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893646 68893647 68893647 downstr_intron 8 1.25 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTAACCCCGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 62 152 1 1 1 NA NA 0.978118399008141 0.937530768326267 NA NA 0.0218816009918587 0.0624692316737333 NA 0.957824583667204 NA 0.042175416332796 NA FALSE NA 1 2.343 . downstream_gene_variant MODIFIER ACTN1 HGNC 163 ENST00000556433 1 NA GGT G,T 8.236e-06 14:68893647 ACTN1 HGNC Symbol protein_coding 105297 ENSG00000072110 ENSE00000658753 splice_region_variant 1.96936 0.9118 0.89259 0.099367 0.91378115664006 0.340667 0.999930573576069 TRUE 4.07415e-06 ENSE00000658753_008 ENSE00000658753 008 14 69360339 69360508 - 33 93 44 C G 69360381 879 128 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTCGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893663 68893664 68893664 exon -10 0.903225806451613 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTCGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 86 101 1 1 1 NA NA 0.978118399008141 0.937530768326267 NA NA 0.0218816009918587 0.0624692316737333 NA 0.957824583667204 NA 0.042175416332796 NA FALSE NA 1 3.788 . downstream_gene_variant MODIFIER ACTN1 HGNC 163 ENST00000556433 1 NA CCA C,G 8.236e-06 14:68893664 ACTN1 HGNC Symbol protein_coding 105297 ENSG00000072110 ENSE00000658753 synonymous_variant 1.50069 0.93584 0.9195 0.722319 0.783971418676064 0 0.999930573576069 TRUE 4.0661e-06 ENSE00000658753_009 ENSE00000658753 009 14 69360339 69360508 - 33 93 44 C T 69360384 880 125 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAACTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893666 68893667 68893667 exon -13 0.870967741935484 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAACTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 325 1023 0.986188944140135 0.995760814440028 0.990974879290081 NA NA 0.978118399008141 0.937530768326267 NA NA 0.00807054513199368 0.058230046113761 NA 0.957824583667204 NA 0.0331502956228774 NA FALSE NA 1 0.959 . synonymous_variant LOW ACTN1 HGNC 163 ENST00000556433 9/9 rs202041611 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 GCT C,T 0.0006424 14:68893667 ACTN1 HGNC Symbol protein_coding 105297 ENSG00000072110 ENSE00000658753 synonymous_variant 2.085347 0.90812 0.74065 0.722319 0.648565266724599 0 0.999930573576069 TRUE 0.000569189 ENSE00000658753_013 ENSE00000658753 013 14 69360339 69360508 - 33 93 44 C T 69360408 884 101 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAACAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893690 68893691 68893691 exon -37 0.612903225806452 CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAACAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 792 83 0.914622262386531 1 0.957311131193265 NA NA 0.978118399008141 0.937530768326267 NA NA -0.0634961366216108 0.0624692316737333 NA 0.957824583667204 NA -0.000513452473938747 NA FALSE NA 1 0.877 . synonymous_variant LOW ACTN1 HGNC 163 ENST00000556433 9/9 1 NA GCT C,T 8.236e-06 14:68893691 ACTN1 HGNC Symbol protein_coding 105297 ENSG00000072110 ENSE00000658753 synonymous_variant 1.995832 0.92221 0.77164 0.722319 0.566886108794829 0 0.999930573576069 TRUE 4.0625e-06 ENSE00000658753_024 ENSE00000658753 024 14 69360339 69360508 - 33 93 44 A G 69360482 895 27 CTGCTGGGGCTGGCTGGTCGTGACTCCCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893764 68893765 68893765 upstr_intron -18 -0.386363636363636 CTGCTGGGGCTGGCTGGTCGTGACTCCCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 303 30 1 1 1 NA NA 0.978118399008141 0.937530768326267 NA NA 0.0218816009918587 0.0624692316737333 NA 0.957824583667204 NA 0.042175416332796 NA FALSE NA 0.001 0.817 . intron_variant MODIFIER ACTN1 HGNC 163 ENST00000556433 8/8 1 NA GAG A,G 8.236e-06 14:68893765 ACTN1 HGNC Symbol protein_coding 105297 ENSG00000072110 ENSE00000658753 intron_variant 0.898553 0.43513 0.26169 0 0.814940855860825 0.535295 0.999930573576069 TRUE NA ENSE00000658753_027 ENSE00000658753 027 14 69360339 69360508 - 33 93 44 G C 69360490 898 19 CTGCTGGGGCTGGCTGGTGGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893772 68893773 68893773 upstr_intron -26 -0.568181818181818 CTGCTGGGGCTGGCTGGTGGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 162 492 1 0.999356560109284 0.999678280054642 NA NA 0.978118399008141 0.937530768326267 NA NA 0.0218816009918587 0.0618257917830169 NA 0.957824583667204 NA 0.0418536963874378 NA FALSE NA 0 -2.42 NA NA NA ACTN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:68893773 ACTN1 HGNC Symbol protein_coding 105297 ENSG00000072110 ENSE00000658753 intron_variant -0.273228 0.18592 0.10033 0 0.728689493658422 0.0573719 0.999930573576069 TRUE 1.23401e-05 ENSE00000658753_029 ENSE00000658753 029 14 69360339 69360508 - 33 93 44 A C 69360491 900 18 CTGCTGGGGCTGGCTGGGCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT 68893621 68893791 68893773 68893774 68893774 upstr_intron -27 -0.590909090909091 CTGCTGGGGCTGGCTGGGCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT CTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAGGCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGATGTGGGTACCCCCGGGTTCACCTGGCCTGACTCT mutant NA NA NA NA NA 57 191 1 0.995912779984838 0.997956389992419 NA NA 0.978118399008141 0.937530768326267 NA NA 0.0218816009918587 0.0583820116585712 NA 0.957824583667204 NA 0.0401318063252149 NA FALSE NA 0 0.134 . intron_variant MODIFIER ACTN1 HGNC 163 ENST00000556433 8/8 1 NA GAC A,C 1.647e-05 14:68893774 ACTN1 HGNC Symbol protein_coding 105297 ENSG00000072110 ENSE00000658753 intron_variant 0.40869 0.19864 0.10254 0 0.788427135183141 0.0573719 0.999930573576069 TRUE NA ENSE00000658850_000 ENSE00000658850 000 14 70842361 70842530 - 32 96 42 NA NA NA NA NA ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 NA NA NA NA NA NA ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC natural NA NA NA NA NA 3582 2436 0.964047144177043 0.905433682461058 0.93474041331905 NA NA 0.964047144177043 0.905433682461058 NA NA 0 0 NA 0.93474041331905 NA 0 NA FALSE NA NA NA NA NA NA SYNJ2BP-COX16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNJ2BP-COX16 NA NA NA ENSG00000258644 ENSE00003584628 NA NA NA NA NA NA NA NA NA NA ENSE00000658850_BRK ENSE00000658850 BRK 14 70842361 70842530 - 32 96 42 A,G; T,T NA NA NA ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACTTGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGCCAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 NA NA NA NA NA NA ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACTTGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGCCAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC control NA NA NA NA NA 470 541 0 0 0 NA NA 0.964047144177043 0.905433682461058 NA NA -0.964047144177043 -0.905433682461058 NA 0.93474041331905 NA -0.93474041331905 NA TRUE NA NA NA NA NA NA SYNJ2BP-COX16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNJ2BP-COX16 NA NA NA ENSG00000258644 ENSE00003584628 NA NA NA NA NA NA NA NA NA NA ENSE00000659433_000 ENSE00000659433 000 14 80997112 80997281 - 41 78 51 NA NA NA NA NA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 NA NA NA NA NA NA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA natural NA NA NA NA NA 1228 2883 0.986433032845989 0.958370983035478 0.972402007940734 NA NA 0.986433032845989 0.958370983035478 NA NA 0 0 NA 0.972402007940734 NA 0 NA FALSE NA NA NA NA NA NA CEP128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP128 NA NA NA ENSG00000100629 ENSE00000659433 NA NA NA NA NA NA NA 4.09190040207887e-18 FALSE NA ENSE00000659433_002 ENSE00000659433 002 14 80997112 80997281 - 41 78 51 A T 80997141 1295 141 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGATGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530796 80530797 80530797 downstr_intron 12 1.3 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGATGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 101 194 1 1 1 NA NA 0.986433032845989 0.958370983035478 NA NA 0.0135669671540106 0.0416290169645217 NA 0.972402007940734 NA 0.0275979920592662 NA FALSE NA 0.478 2.687 . intron_variant MODIFIER CEP128 HGNC 20359 ENST00000555265 22/24 rs374190483 1 NA T:0.0002 T:0 AAC A,T 3.295e-05 14:80530797 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 intron_variant 2.479093 0.97815 0.91685 0.074636 0.839478074191054 0.953659 4.09190040207887e-18 FALSE 2.54494e-05 ENSE00000659433_004 ENSE00000659433 004 14 80997112 80997281 - 41 78 51 T G 80997160 1297 122 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGCCTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530815 80530816 80530816 exon -8 0.91025641025641 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGCCTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 381 606 0.993379163253906 0.998029125067218 0.995704144160562 NA NA 0.986433032845989 0.958370983035478 NA NA 0.00694613040791636 0.0396581420317397 NA 0.972402007940734 NA 0.023302136219828 NA FALSE NA 1 4.527 rs146120887 missense_variant MODERATE CEP128 HGNC 20359 ENST00000555265 22/25 rs146120887 1 deleterious(0) possibly_damaging(0.658) NA G:0.0002 G:0.0001 GTC T,G 4.118e-05 14:80530816 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 missense_variant 5.743915 0.98426 0.94678 0.638212 0.992790445519298 0 4.09190040207887e-18 FALSE 3.74068e-05 ENSE00000659433_006 ENSE00000659433 006 14 80997112 80997281 - 41 78 51 T A 80997190 1299 92 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGTGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530845 80530846 80530846 exon -38 0.525641025641026 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGTGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 1055 722 0.998424315630563 0.998025559166744 0.998224937398654 NA NA 0.986433032845989 0.958370983035478 NA NA 0.0119912827845735 0.0396545761312661 NA 0.972402007940734 NA 0.0258229294579198 NA FALSE NA 1 6.155 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000555265 22/25 1 deleterious(0) possibly_damaging(0.789) NA CTC T,A 8.237e-06 14:80530846 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 missense_variant 6.45316 0.99007 0.97341 0.638212 0.995341176748216 0 4.09190040207887e-18 FALSE 4.10894e-06 ENSE00000659433_008 ENSE00000659433 008 14 80997112 80997281 - 41 78 51 A C 80997207 1301 75 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCAGCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530862 80530863 80530863 exon 24 0.307692307692308 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCAGCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 125 434 1 0.987026928120596 0.993513464060298 NA NA 0.986433032845989 0.958370983035478 NA NA 0.0135669671540106 0.0286559450851178 NA 0.972402007940734 NA 0.0211114561195642 NA FALSE NA 1 4.416 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000555265 22/25 rs199749626 1 deleterious(0) probably_damaging(0.997) NA C:0 C:0.0002 GAT A,C 9.06e-05 14:80530863 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 missense_variant 5.295088 0.97933 0.94012 0.638212 0.995396700040212 0 4.09190040207887e-18 FALSE 0.000106747 ENSE00000659433_009 ENSE00000659433 009 14 80997112 80997281 - 41 78 51 G A 80997209 1302 73 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACTATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530864 80530865 80530865 exon 22 0.282051282051282 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACTATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 145 275 1 1 1 NA NA 0.986433032845989 0.958370983035478 NA NA 0.0135669671540106 0.0416290169645217 NA 0.972402007940734 NA 0.0275979920592662 NA FALSE NA 1 7.531 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000555265 22/25 1 deleterious(0) probably_damaging(0.996) NA TGG G,A 8.237e-06 14:80530865 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 missense_variant 6.156384 0.99222 0.9815 0.638212 0.998366599880913 0 4.09190040207887e-18 FALSE 4.12582e-06 ENSE00000659433_010 ENSE00000659433 010 14 80997112 80997281 - 41 78 51 T G 80997211 1303 71 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGCCCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530866 80530867 80530867 exon 20 0.256410256410256 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGCCCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 1712 100 0.996910528801313 1 0.998455264400656 NA NA 0.986433032845989 0.958370983035478 NA NA 0.0104774959553233 0.0416290169645217 NA 0.972402007940734 NA 0.0260532564599225 NA FALSE NA 1 4.528 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000555265 22/25 1 deleterious(0) benign(0.258) NA GTC T,G 1.647e-05 14:80530867 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 missense_variant 3.496103 0.99015 0.96366 0.638212 0.991377939481599 0 4.09190040207887e-18 FALSE 4.12756e-06 ENSE00000659433_011 ENSE00000659433 011 14 80997112 80997281 - 41 78 51 G A 80997217 1304 65 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGTCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530872 80530873 80530873 exon 14 0.179487179487179 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGTCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 58 498 1 0.997516473467347 0.998758236733673 NA NA 0.986433032845989 0.958370983035478 NA NA 0.0135669671540106 0.0391454904318682 NA 0.972402007940734 NA 0.0263562287929394 NA FALSE NA 1 7.531 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000555265 22/25 rs372169462 1 deleterious(0) probably_damaging(0.998) NA A:0 A:0.0001 GGC G,A 8.237e-06 14:80530873 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 missense_variant 6.001083 0.99256 0.98267 0.638212 0.99895756012756 0 4.09190040207887e-18 FALSE 1.24167e-05 ENSE00000659433_012 ENSE00000659433 012 14 80997112 80997281 - 41 78 51 T G 80997223 1305 59 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCCAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530878 80530879 80530879 exon 8 0.102564102564103 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCCAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 2353 336 0.996430261396179 0.955761697851073 0.976095979623626 NA NA 0.986433032845989 0.958370983035478 NA NA 0.00999722855018947 -0.00260928518440517 NA 0.972402007940734 NA 0.00369397168289215 NA FALSE NA 0.998 1.089 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000555265 22/25 1 deleterious(0) benign(0.245) NA TTG C,G 8.237e-06 14:80530879 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 missense_variant 3.797639 0.97863 0.7967 0.638212 0.986381562180361 0 4.09190040207887e-18 FALSE 4.17624e-06 ENSE00000659433_013 ENSE00000659433 013 14 80997112 80997281 - 41 78 51 A G 80997236 1306 46 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTACTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530891 80530892 80530892 upstr_intron -6 -0.0980392156862745 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTACTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 68 533 1 1 1 NA NA 0.986433032845989 0.958370983035478 NA NA 0.0135669671540106 0.0416290169645217 NA 0.972402007940734 NA 0.0275979920592662 NA FALSE NA 1 0.989 . splice_region_variant&intron_variant LOW CEP128 HGNC 20359 ENST00000555265 21/24 1 NA AAT A,G 1.648e-05 14:80530892 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 splice_region_variant 1.174241 0.95485 0.76948 0.053691 0.883038765172248 0.298079 4.09190040207887e-18 FALSE 8.57508e-06 ENSE00000659433_014 ENSE00000659433 014 14 80997112 80997281 - 41 78 51 T C 80997237 1307 45 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTGTTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530892 80530893 80530893 upstr_intron -7 -0.117647058823529 GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTGTTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 216 159 0.99513731136631 1 0.997568655683155 NA NA 0.986433032845989 0.958370983035478 NA NA 0.00870427852032041 0.0416290169645217 NA 0.972402007940734 NA 0.0251666477424211 NA FALSE NA 1 1.424 . splice_region_variant&intron_variant LOW CEP128 HGNC 20359 ENST00000555265 21/24 rs375528326 1 NA C:0 C:0.0001 ATA T,C 1.648e-05 14:80530893 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 splice_region_variant 0.942678 0.66219 0.67357 0.053691 0.728610580176657 0.210066 4.09190040207887e-18 FALSE 8.58775e-06 ENSE00000659433_017 ENSE00000659433 017 14 80997112 80997281 - 41 78 51 T C 80997262 1310 20 GTATTAATCAATTTTTTATGATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530917 80530918 80530918 upstr_intron -32 -0.607843137254902 GTATTAATCAATTTTTTATGATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 242 339 0.9972469179134 1 0.9986234589567 NA NA 0.986433032845989 0.958370983035478 NA NA 0.0108138850674111 0.0416290169645217 NA 0.972402007940734 NA 0.0262214510159664 NA FALSE NA 0.98 0.074 . intron_variant MODIFIER CEP128 HGNC 20359 ENST00000555265 21/24 1 NA TTA T,C 8.242e-06 14:80530918 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 non_coding_transcript_exon_variant 1.753404 0.86009 0.77031 0.053691 0.833951385363884 0.287165 4.09190040207887e-18 FALSE NA ENSE00000659433_018 ENSE00000659433 018 14 80997112 80997281 - 41 78 51 T C 80997271 1311 11 GTATTAATCAGTTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 80530926 80530927 80530927 upstr_intron -41 -0.784313725490196 GTATTAATCAGTTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA mutant NA NA NA NA NA 470 2942 0.982636082017122 0.927194759060471 0.954915420538796 NA NA 0.986433032845989 0.958370983035478 NA NA -0.00379695082886733 -0.0311762239750074 NA 0.972402007940734 NA -0.0174865874019374 NA FALSE NA 0.531 0.463 . intron_variant MODIFIER CEP128 HGNC 20359 ENST00000555265 21/24 rs572548778 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATT T,C 8.244e-06 14:80530927 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00000659433 non_coding_transcript_exon_variant 1.178229 0.33305 0.06067 0.053691 0.830827957301511 0.131045 4.09190040207887e-18 FALSE 9.40725e-06 ENSE00000659433_BRK ENSE00000659433 BRK 14 80997112 80997281 - 41 78 51 A,G; T,T NA NA NA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCTTAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGACCGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA 80530767 80530937 NA NA NA NA NA NA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCTTAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGACCGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA GTATTAATCAATTTTTTATAATGTTTGGTTTCCTTATGTTTTCTATTTCAGAGTACCCAAGTGGCCTTGGACCATCTGGAGTCTGTGCCTGAGAAACTGAGCCTACTAGAAGATTTCAAAGACTTCAGAGTGAGAAAGAGTTGGCTTGTCTCTTTCAGTATTTTATCTGA control NA NA NA NA NA 136 69 0.065053172011131 0 0.0325265860055655 NA NA 0.986433032845989 0.958370983035478 NA NA -0.921379860834858 -0.958370983035478 NA 0.972402007940734 NA -0.939875421935168 NA TRUE NA NA NA NA NA NA CEP128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP128 NA NA NA ENSG00000100629 ENSE00000659433 NA NA NA NA NA NA NA 4.09190040207887e-18 FALSE NA ENSE00000660106_000 ENSE00000660106 000 20 18407678 18407847 - 33 93 44 NA NA NA NA NA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 NA NA NA NA NA NA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA natural 67 157 0.99842458756097 0.995551908711683 0.996988248136327 6240 4209 0.996705092961994 0.955099763772069 0.975902428367031 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 0 0 0 0 0.996988248136327 0.975902428367031 0 0 0 FALSE FALSE NA NA NA NA NA DZANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DZANK1 NA NA NA ENSG00000089091 ENSE00003703305 NA NA NA NA NA NA NA 4.59513480508911e-15 FALSE NA ENSE00000660106_001 ENSE00000660106 001 20 18407678 18407847 - 33 93 44 T A 18407689 434 159 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCATTCCTATATTTA 18427033 18427203 18427044 18427045 18427045 downstr_intron 22 1.6875 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCATTCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 2270 1396 0.999121251760462 0.999448940294772 0.999285096027617 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA 0.00241615879846824 0.044349176522703 0.996988248136327 0.975902428367031 NA 0.0233826676605856 NA FALSE NA 0 -1.173 . intron_variant MODIFIER DZANK1 HGNC 15858 ENST00000358866 9/19 1 NA ATT T,A 8.275e-06 20:18427045 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 intron_variant 0.211008 0.17698 0.01636 0.078448 0.457811016485887 0.0689414 4.59513480508911e-15 FALSE 4.13685e-06 ENSE00000660106_002 ENSE00000660106 002 20 18407678 18407847 - 33 93 44 G C 18407692 435 156 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGGCAATCCTATATTTA 18427033 18427203 18427047 18427048 18427048 downstr_intron 19 1.59375 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGGCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 298 3060 0.93104339120214 0.951038011086482 0.941040701144311 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.065661701759854 -0.00406175268558717 0.996988248136327 0.975902428367031 NA -0.0348617272227206 NA FALSE NA 0 0.108 . intron_variant MODIFIER DZANK1 HGNC 15858 ENST00000358866 9/19 1 NA GGC G,C 8.275e-06 20:18427048 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 intron_variant -0.599829 0.17983 0.05974 0.078448 0.364510848301578 0.0689414 4.59513480508911e-15 FALSE 4.13493e-06 ENSE00000660106_003 ENSE00000660106 003 20 18407678 18407847 - 33 93 44 A G 18407705 436 143 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGCTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427060 18427061 18427061 downstr_intron 6 1.1875 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGCTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 2104 339 0.800647773955343 0.817576704446831 0.809112239201087 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.196057319006651 -0.137523059325237 0.996988248136327 0.975902428367031 NA -0.166790189165944 NA FALSE NA 0.023 0.133 . splice_region_variant&intron_variant LOW DZANK1 HGNC 15858 ENST00000358866 9/19 1 NA AAC A,G 8.275e-06 20:18427061 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 splice_region_variant 0.416039 0.49367 0.0237 0.078448 0.524399361051041 0.142492 4.59513480508911e-15 FALSE 4.08934e-06 ENSE00000660106_004 ENSE00000660106 004 20 18407678 18407847 - 33 93 44 C A 18407706 437 142 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGTTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427061 18427062 18427062 downstr_intron 5 1.15625 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGTTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 258 356 0 0.0173236945256985 0.00866184726284923 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.996705092961994 -0.93777606924637 0.996988248136327 0.975902428367031 NA -0.967240581104182 NA TRUE NA 0.074 1.914 . splice_region_variant&intron_variant LOW DZANK1 HGNC 15858 ENST00000358866 9/19 1 NA ACC C,A 1.655e-05 20:18427062 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 splice_region_variant 1.215179 0.97077 0.4041 0.078448 0.721486746096835 0.252792 4.59513480508911e-15 FALSE NA ENSE00000660106_005 ENSE00000660106 005 20 18407678 18407847 - 33 93 44 T G 18407712 438 136 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGCGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427067 18427068 18427068 exon -2 0.989247311827957 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGCGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 955 1613 0.664910219898536 0.832633198299274 0.748771709098905 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.331794873063458 -0.122466565472795 0.996988248136327 0.975902428367031 NA -0.227130719268126 NA FALSE NA 0.755 0.762 . missense_variant&splice_region_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 tolerated(0.35) benign(0.013) NA CTC T,G 8.274e-06 20:18427068 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 1.234618 0.54673 0.53018 0.638212 0.95037170815835 0 4.59513480508911e-15 FALSE 8.16393e-06 ENSE00000660106_006 ENSE00000660106 006 20 18407678 18407847 - 33 93 44 T A 18407715 439 133 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACTAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427070 18427071 18427071 exon -5 0.956989247311828 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACTAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 504 413 0.987923846928948 0.971928985032673 0.979926415980811 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.00878124603304564 0.0168292212606043 0.996988248136327 0.975902428367031 NA 0.00402398761377931 NA FALSE NA 0.565 0.59 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 rs554426957 1 tolerated(0.13) benign(0.005) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TTG T,A 9.101e-05 20:18427071 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant -0.241819 0.21628 0.63312 0.638212 0.288667296028574 0 4.59513480508911e-15 FALSE 7.75086e-05 ENSE00000660106_007 ENSE00000660106 007 20 18407678 18407847 - 33 93 44 G A 18407724 440 124 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCTTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427079 18427080 18427080 exon -14 0.860215053763441 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCTTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 925 2951 0.837254065236765 0.999220632921478 0.918237349079122 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.159451027725229 0.0441208691494095 0.996988248136327 0.975902428367031 NA -0.0576650792879096 NA FALSE NA 0.997 2.19 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 tolerated(0.06) benign(0.078) NA AGG G,A 8.274e-06 20:18427080 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 2.636357 0.97612 0.90467 0.638212 0.997065392059311 0 4.59513480508911e-15 FALSE 4.07299e-06 ENSE00000660106_008 ENSE00000660106 008 20 18407678 18407847 - 33 93 44 G A 18407725 441 123 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGTCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427080 18427081 18427081 exon -15 0.849462365591398 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGTCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 753 560 0.994440494587815 0.974302657283831 0.984371575935823 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.00226459837417925 0.0192028935117627 0.996988248136327 0.975902428367031 NA 0.00846914756879175 NA FALSE NA 1 3.814 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 tolerated(0.06) benign(0.142) NA GGC G,A 8.274e-06 20:18427081 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 1.780841 0.96694 0.82464 0.638212 0.993841023159129 0 4.59513480508911e-15 FALSE 4.07368e-06 ENSE00000660106_009 ENSE00000660106 009 20 18407678 18407847 - 33 93 44 A G 18407749 442 99 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACCGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427104 18427105 18427105 exon -39 0.591397849462366 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACCGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 1175 2487 1 0.997462412577341 0.998731206288671 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA 0.00329490703800617 0.0423626488052725 0.996988248136327 0.975902428367031 NA 0.0228287779216393 NA FALSE NA 1 5.636 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 deleterious(0) probably_damaging(0.996) NA CAG A,G 3.31e-05 20:18427105 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 5.629846 0.98947 0.96815 0.638212 0.997454577937429 0 4.59513480508911e-15 FALSE 2.44091e-05 ENSE00000660106_010 ENSE00000660106 010 20 18407678 18407847 - 33 93 44 T C 18407751 443 97 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATGCTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427106 18427107 18427107 exon -41 0.56989247311828 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATGCTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 1575 507 0.939553687670835 0.996783735380053 0.968168711525444 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.0571514052911587 0.0416839716079842 0.996988248136327 0.975902428367031 NA -0.00773371684158725 NA FALSE NA 1 3.303 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 deleterious(0.02) possibly_damaging(0.873) NA GTA T,C 2.483e-05 20:18427107 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 4.440393 0.98868 0.93326 0.638212 0.99830727431558 0 4.59513480508911e-15 FALSE 1.21995e-05 ENSE00000660106_011 ENSE00000660106 011 20 18407678 18407847 - 33 93 44 G A 18407763 444 85 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGTTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427118 18427119 18427119 exon 41 0.440860215053763 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGTTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 2275 1591 0.95433209204765 0.878164165952805 0.916248129000228 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.0423730009143435 -0.0769355978192636 0.996988248136327 0.975902428367031 NA -0.0596542993668036 NA FALSE NA 1 0.774 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 tolerated(0.55) benign(0.029) NA AGC G,A 8.275e-06 20:18427119 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 2.959919 0.97967 0.75121 0.638212 0.992306641187239 0 4.59513480508911e-15 FALSE 1.62651e-05 ENSE00000660106_013 ENSE00000660106 013 20 18407678 18407847 - 33 93 44 T C 18407774 446 74 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACGGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427129 18427130 18427130 exon 30 0.32258064516129 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACGGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 1736 459 0.947876869351471 0.999655286041236 0.973766077696354 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.0488282236105225 0.0445555222691676 0.996988248136327 0.975902428367031 NA -0.00213635067067747 NA FALSE NA 0.41 -1.066 NA NA NA DZANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:18427130 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 synonymous_variant -0.143773 0.94939 0.17813 0.553676 0.439384759179118 0 4.59513480508911e-15 FALSE 4.06759e-06 ENSE00000660106_014 ENSE00000660106 014 20 18407678 18407847 - 33 93 44 C A 18407778 447 70 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGTTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427133 18427134 18427134 exon 26 0.279569892473118 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGTTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 1247 314 0.902967502294166 1 0.951483751147083 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.0937375906678276 0.0449002362279313 0.996988248136327 0.975902428367031 NA -0.0244186772199482 NA FALSE NA 1 4.741 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 deleterious(0) probably_damaging(0.983) NA ACC C,A 8.276e-06 20:18427134 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 6.141661 0.98913 0.95461 0.553676 0.997791149289441 0 4.59513480508911e-15 FALSE 4.06848e-06 ENSE00000660106_015 ENSE00000660106 015 20 18407678 18407847 - 33 93 44 C T 18407779 448 69 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTAGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427134 18427135 18427135 exon 25 0.268817204301075 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTAGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 828 1436 0.917193985064967 0.849331098422792 0.88326254174388 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.0795111078970264 -0.105768665349277 0.996988248136327 0.975902428367031 NA -0.0926398866231517 NA FALSE NA 1 4.741 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 deleterious(0.03) probably_damaging(0.992) NA CCA C,T 0.000149 20:18427135 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 4.975491 0.98869 0.94638 0.553676 0.998417971627898 0 4.59513480508911e-15 FALSE 0.000191245 ENSE00000660106_016 ENSE00000660106 016 20 18407678 18407847 - 33 93 44 G A 18407784 449 64 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGTCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427139 18427140 18427140 exon 20 0.21505376344086 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGTCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 139 1617 0.99669701948764 0.989698257205767 0.993197638346703 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -8.07347435394234e-06 0.0345984934336983 0.996988248136327 0.975902428367031 NA 0.0172952099796722 NA FALSE NA 0.011 0.067 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 tolerated(0.57) benign(0.004) NA GGC G,A 8.276e-06 20:18427140 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 0.789432 0.20731 0.04558 0.553676 0.886773903291908 0 4.59513480508911e-15 FALSE 8.13908e-06 ENSE00000660106_017 ENSE00000660106 017 20 18407678 18407847 - 33 93 44 C T 18407786 450 62 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGAGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427141 18427142 18427142 exon 18 0.193548387096774 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGAGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 584 1975 0.866828621267152 0.999030678785951 0.932929650026552 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.129876471694842 0.0439309150138825 0.996988248136327 0.975902428367031 NA -0.0429727783404796 NA FALSE NA 0 -0.94 . synonymous_variant LOW DZANK1 HGNC 15858 ENST00000358866 9/20 1 NA CCC C,T 8.276e-06 20:18427142 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 synonymous_variant 1.379806 0.18984 0.01695 0.553676 0.601123246554951 0 4.59513480508911e-15 FALSE 4.06954e-06 ENSE00000660106_018 ENSE00000660106 018 20 18407678 18407847 - 33 93 44 C T 18407787 451 61 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCAGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427142 18427143 18427143 exon 17 0.182795698924731 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCAGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 253 1821 0.993650130281115 0.984799246847111 0.989224688564113 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.00305496268087879 0.0296994830750419 0.996988248136327 0.975902428367031 NA 0.0133222601970815 NA FALSE NA 0 -0.781 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 rs566763701 1 tolerated(1) benign(0.01) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCG C,T 2.483e-05 20:18427143 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 1.698448 0.17393 0.01898 0.553676 0.954853480142296 0 4.59513480508911e-15 FALSE 2.0352e-05 ENSE00000660106_019 ENSE00000660106 019 20 18407678 18407847 - 33 93 44 G A 18407788 452 60 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCTGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427143 18427144 18427144 exon 16 0.172043010752688 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCTGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 1360 629 0.980259439847026 0.945670440448464 0.962964940147745 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.0164456531149674 -0.0094293233236048 0.996988248136327 0.975902428367031 NA -0.0129374882192861 NA FALSE NA 0.595 0.527 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 rs533809526 1 deleterious(0.05) possibly_damaging(0.776) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGG G,A 8.276e-06 20:18427144 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 4.828746 0.95077 0.44966 0.553676 0.995460498198774 0 4.59513480508911e-15 FALSE 3.25815e-05 ENSE00000660106_020 ENSE00000660106 020 20 18407678 18407847 - 33 93 44 C A 18407790 453 58 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTTCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427145 18427146 18427146 exon 14 0.150537634408602 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTTCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 547 1203 0.996665916468104 0.994397320247474 0.995531618357789 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -3.91764938901806e-05 0.0392975564754053 0.996988248136327 0.975902428367031 NA 0.0196291899907576 NA FALSE NA 1 4.741 . missense_variant MODERATE DZANK1 HGNC 15858 ENST00000358866 9/20 1 deleterious(0) probably_damaging(0.99) NA GCA C,A 1.655e-05 20:18427146 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 missense_variant 6.146132 0.98913 0.95461 0.553676 0.989095855544166 0 4.59513480508911e-15 FALSE 1.22102e-05 ENSE00000660106_021 ENSE00000660106 021 20 18407678 18407847 - 33 93 44 C T 18407801 454 47 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAAAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427156 18427157 18427157 exon 3 0.032258064516129 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAAAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 1242 43 0.865555250147449 1 0.932777625073725 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.131149842814544 0.0449002362279313 0.996988248136327 0.975902428367031 NA -0.0431248032933066 NA FALSE NA 0.998 0.414 . splice_region_variant&synonymous_variant LOW DZANK1 HGNC 15858 ENST00000358866 9/20 1 NA TCT C,T 8.277e-06 20:18427157 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 splice_region_variant 1.003398 0.9704 0.67201 0.553676 0.745733527796878 0 4.59513480508911e-15 FALSE 8.15202e-06 ENSE00000660106_023 ENSE00000660106 023 20 18407678 18407847 - 33 93 44 C T 18407804 456 44 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAAGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427159 18427160 18427160 upstr_intron -1 0 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAAGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 89 28 1 0.808948360454627 0.904474180227313 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA 0.00329490703800617 -0.146151403317442 0.996988248136327 0.975902428367031 NA -0.0714282481397179 NA FALSE NA 1 4.741 rs6111953 splice_acceptor_variant HIGH DZANK1 HGNC 15858 ENST00000358866 8/19 rs6111953 1 NA HC CCT C,T 8.277e-06 20:18427160 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 splice_acceptor_variant 3.947061 0.9793 0.92331 0.074636 0.990136108859137 0.956217 4.59513480508911e-15 FALSE 4.082e-06 ENSE00000660106_024 ENSE00000660106 024 20 18407678 18407847 - 33 93 44 T G 18407805 457 43 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTACGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427160 18427161 18427161 upstr_intron -2 -0.0227272727272727 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTACGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 701 797 0 0.000458847631551696 0.000229423815775848 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.996705092961994 -0.954640916140517 0.996988248136327 0.975902428367031 NA -0.975673004551255 NA TRUE NA 1 4.87 . splice_acceptor_variant HIGH DZANK1 HGNC 15858 ENST00000358866 8/19 1 NA HC CTT T,G 1.655e-05 20:18427161 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 splice_acceptor_variant 3.58395 0.98644 0.9509 0.053691 0.991620538377375 0.940897 4.59513480508911e-15 FALSE 8.17949e-06 ENSE00000660106_025 ENSE00000660106 025 20 18407678 18407847 - 33 93 44 A G 18407808 458 40 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGCTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427163 18427164 18427164 upstr_intron -5 -0.0909090909090909 TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGCTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 101 553 0.965357171992263 0.97948744137709 0.972422306684676 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.0313479209697308 0.0243876776050211 0.996988248136327 0.975902428367031 NA -0.00348012168235484 NA FALSE NA 0.933 0.64 . splice_region_variant&intron_variant LOW DZANK1 HGNC 15858 ENST00000358866 8/19 rs374827567 1 NA G:0.0005 G:0 AAC A,G 1.655e-05 20:18427164 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 splice_region_variant 0.40372 0.96245 0.64395 0.053691 0.612230413138719 0.232067 4.59513480508911e-15 FALSE 8.17054e-06 ENSE00000660106_026 ENSE00000660106 026 20 18407678 18407847 - 33 93 44 A G 18407818 459 30 TGTTTGCTCAGAGGAACATGTATGTCTTACTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427173 18427174 18427174 upstr_intron -15 -0.318181818181818 TGTTTGCTCAGAGGAACATGTATGTCTTACTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 301 1077 0.473011130894125 0.459065803648132 0.466038467271129 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.523693962067869 -0.496033960123936 0.996988248136327 0.975902428367031 NA -0.509863961095903 NA TRUE NA 0.036 1.655 . intron_variant MODIFIER DZANK1 HGNC 15858 ENST00000358866 8/19 1 NA AAT A,G 8.277e-06 20:18427174 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 intron_variant 0.130798 0.77873 0.3415 0.078448 0.619110834654017 0.119872 4.59513480508911e-15 FALSE 4.11113e-06 ENSE00000660106_027 ENSE00000660106 027 20 18407678 18407847 - 33 93 44 C T 18407824 460 24 TGTTTGCTCAGAGGAACATGTATATCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427179 18427180 18427180 upstr_intron -21 -0.454545454545455 TGTTTGCTCAGAGGAACATGTATATCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 850 3436 0.988408919594785 0.966635970441181 0.977522445017983 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.00829617336720923 0.0115362066691121 0.996988248136327 0.975902428367031 NA 0.00162001665095146 NA FALSE NA 0.034 0.192 . intron_variant MODIFIER DZANK1 HGNC 15858 ENST00000358866 8/19 1 NA ACA C,T 8.277e-06 20:18427180 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 intron_variant 0.084082 0.1743 0.03704 0.078448 0.619856631274401 0.0698953 4.59513480508911e-15 FALSE 4.16136e-06 ENSE00000660106_028 ENSE00000660106 028 20 18407678 18407847 - 33 93 44 T C 18407826 461 22 TGTTTGCTCAGAGGAACATGTGTGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 18427181 18427182 18427182 upstr_intron -23 -0.5 TGTTTGCTCAGAGGAACATGTGTGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA mutant NA NA NA NA NA 266 1175 1 0.996828801874185 0.998414400937092 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA 0.00329490703800617 0.041729038102116 0.996988248136327 0.975902428367031 NA 0.0225119725700611 NA FALSE NA 0 -2.637 . intron_variant MODIFIER DZANK1 HGNC 15858 ENST00000358866 8/19 1 NA ATA T,C 4.966e-05 20:18427182 DZANK1 HGNC Symbol protein_coding 83914 ENSG00000089091 ENSE00003703305 intron_variant 0.193718 0.18964 0.01583 0.078448 0.716470453150275 0.0698953 4.59513480508911e-15 FALSE 7.07632e-05 ENSE00000660106_BRK ENSE00000660106 BRK 20 18407678 18407847 - 33 93 44 A,G; T,T NA NA NA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTATTGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGCCAGGTTGATTGCATGTGCCAATCCTATATTTA 18427033 18427203 NA NA NA NA NA NA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTATTGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGCCAGGTTGATTGCATGTGCCAATCCTATATTTA TGTTTGCTCAGAGGAACATGTATGTCTTATTTTTTGTTGTTAAGGAGAAGGTAATTTGCCGGGCCTGTGGTACAGGAAATCCTGCTCACCTGAGATACTGTGTCACCTGTGAGGGGGCCCTGCCTTCATCACAAGAGGTAGGTTGATTGCATGTGCCAATCCTATATTTA control NA NA NA NA NA 119 1318 0 0.0046489414598166 0.0023244707299083 0.99842458756097 0.995551908711683 0.996705092961994 0.955099763772069 NA NA -0.996705092961994 -0.950450822312252 0.996988248136327 0.975902428367031 NA -0.973577957637123 NA TRUE NA NA NA NA NA NA DZANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DZANK1 NA NA NA ENSG00000089091 ENSE00003703305 NA NA NA NA NA NA NA 4.59513480508911e-15 FALSE NA ENSE00000660167_000 ENSE00000660167 000 20 18516252 18516421 + 45 90 35 NA NA NA NA NA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 NA NA NA NA NA NA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA natural NA NA NA NA NA 2253 1005 0.843961294760252 0.919074771646636 0.881518033203444 NA NA 0.843961294760252 0.919074771646636 NA NA 0 0 NA 0.881518033203444 NA 0 NA FALSE NA NA NA NA NA NA SEC23B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC23B NA NA NA ENSG00000101310 ENSE00000660167 NA NA NA NA NA NA NA 6.85928695809641e-14 FALSE NA ENSE00000660167_001 ENSE00000660167 001 20 18516252 18516421 + 45 90 35 G C 18516262 489 11 ATGGTTTTCTCGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535617 18535618 18535618 upstr_intron -35 -0.755555555555556 ATGGTTTTCTCGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 39 110 1 1 1 NA NA 0.843961294760252 0.919074771646636 NA NA 0.156038705239748 0.0809252283533637 NA 0.881518033203444 NA 0.118481966796556 NA FALSE NA 0.005 -0.06 . intron_variant MODIFIER SEC23B HGNC 10702 ENST00000377475 11/19 rs374575844 1 NA A:0 A:0.0001 TGG G,C 1.647e-05 20:18535618 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 intron_variant -0.237877 0.09852 0.03293 0.295142 0.531731603738984 0.0647815 6.85928695809641e-14 FALSE 3.67704e-05 ENSE00000660167_002 ENSE00000660167 002 20 18516252 18516421 + 45 90 35 G T 18516299 490 48 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGATCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535654 18535655 18535655 exon 3 0.0333333333333333 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGATCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 80 1006 1 0.999544746790495 0.999772373395247 NA NA 0.843961294760252 0.919074771646636 NA NA 0.156038705239748 0.0804699751438587 NA 0.881518033203444 NA 0.118254340191803 NA FALSE NA 0.602 0.153 rs147410912 missense_variant&splice_region_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 rs147410912 1 tolerated(0.08) benign(0.182) T:0.0008 T:0.0023 T:0.0014 NA T:0 T:0 T:0 T:0.0057 T:0 AGC G,T 0.0004859 20:18535655 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 1.178044 0.95352 0.87161 0.706548 0.982451125764535 0 6.85928695809641e-14 FALSE 0.000418318 ENSE00000660167_003 ENSE00000660167 003 20 18516252 18516421 + 45 90 35 G A 18516317 491 66 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACAAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535672 18535673 18535673 exon 21 0.233333333333333 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACAAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 20 713 1 0.99892529140182 0.99946264570091 NA NA 0.843961294760252 0.919074771646636 NA NA 0.156038705239748 0.0798505197551832 NA 0.881518033203444 NA 0.117944612497466 NA FALSE NA 0 -3.837 rs146587686 synonymous_variant LOW SEC23B HGNC 10702 ENST00000377475 12/20 rs146587686&COSM1024909 1 NA A:0.0009 A:0.0003 CGA G,A 0.0002059 20:18535673 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 synonymous_variant 1.792848 0.87564 0.05961 0.706548 0.686573724558289 0 6.85928695809641e-14 FALSE 0.000199007 ENSE00000660167_005 ENSE00000660167 005 20 18516252 18516421 + 45 90 35 A G 18516322 493 71 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCGGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535677 18535678 18535678 exon 26 0.288888888888889 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCGGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 1771 155 0.99934753051909 0.983314277771354 0.991330904145222 NA NA 0.843961294760252 0.919074771646636 NA NA 0.155386235758838 0.0642395061247182 NA 0.881518033203444 NA 0.109812870941778 NA FALSE NA 1 9.091 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 tolerated(0.06) benign(0.139) NA CAG A,G 5.765e-05 20:18535678 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 3.336658 0.99191 0.99225 0.706548 0.998575935288402 0 6.85928695809641e-14 FALSE 6.09172e-05 ENSE00000660167_006 ENSE00000660167 006 20 18516252 18516421 + 45 90 35 T C 18516331 494 80 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAACCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535686 18535687 18535687 exon 35 0.388888888888889 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAACCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 183 337 0.99749971576232 1 0.99874985788116 NA NA 0.843961294760252 0.919074771646636 NA NA 0.153538421002068 0.0809252283533637 NA 0.881518033203444 NA 0.117231824677716 NA FALSE NA 1 7.827 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 deleterious(0) benign(0.101) NA ATC T,C 8.236e-06 20:18535687 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 4.536538 0.99163 0.98678 0.706548 0.997042880212742 0 6.85928695809641e-14 FALSE 4.06108e-06 ENSE00000660167_007 ENSE00000660167 007 20 18516252 18516421 + 45 90 35 T G 18516333 495 82 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCGGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535688 18535689 18535689 exon 37 0.411111111111111 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCGGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 534 32 0.998213870010349 1 0.999106935005175 NA NA 0.843961294760252 0.919074771646636 NA NA 0.154252575250097 0.0809252283533637 NA 0.881518033203444 NA 0.11758890180173 NA FALSE NA 1 7.827 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 tolerated(0.13) benign(0.02) NA CTG T,G 8.236e-06 20:18535689 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 2.834523 0.99188 0.98906 0.706548 0.960400413602123 0 6.85928695809641e-14 FALSE 4.06101e-06 ENSE00000660167_008 ENSE00000660167 008 20 18516252 18516421 + 45 90 35 G A 18516336 496 85 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTAGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535691 18535692 18535692 exon 40 0.444444444444444 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTAGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 510 397 0.999919279348454 0.995027979873372 0.997473629610913 NA NA 0.843961294760252 0.919074771646636 NA NA 0.155957984588203 0.0759532082267359 NA 0.881518033203444 NA 0.115955596407469 NA FALSE NA 0.998 1.109 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 tolerated(0.51) benign(0.015) NA TGG G,A 8.236e-06 20:18535692 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 2.486319 0.96969 0.82773 0.719381 0.960019273743349 0 6.85928695809641e-14 FALSE 1.21833e-05 ENSE00000660167_009 ENSE00000660167 009 20 18516252 18516421 + 45 90 35 A G 18516348 497 97 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTGCATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535703 18535704 18535704 exon -39 0.577777777777778 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTGCATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 248 875 0.991867717439923 0.999819212106472 0.995843464773198 NA NA 0.843961294760252 0.919074771646636 NA NA 0.147906422679671 0.0807444404598356 NA 0.881518033203444 NA 0.114325431569753 NA FALSE NA 0.028 2.796 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 tolerated(0.51) benign(0.003) NA TAC A,G 8.236e-06 20:18535704 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 1.335276 0.65012 0.35397 0.719381 0.922640139641053 0 6.85928695809641e-14 FALSE 8.12249e-06 ENSE00000660167_010 ENSE00000660167 010 20 18516252 18516421 + 45 90 35 A G 18516354 498 103 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTGCACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535709 18535710 18535710 exon -33 0.644444444444444 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTGCACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 213 388 0.996668421178605 1 0.998334210589303 NA NA 0.843961294760252 0.919074771646636 NA NA 0.152707126418353 0.0809252283533637 NA 0.881518033203444 NA 0.116816177385859 NA FALSE NA 1 9.091 rs141002390 missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 rs141002390 1 tolerated(0.08) possibly_damaging(0.58) NA G:0.0005 G:0 TAC A,G 3.295e-05 20:18535710 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 4.663003 0.99184 0.99223 0.719381 0.994677695977286 0 6.85928695809641e-14 FALSE 2.03061e-05 ENSE00000660167_011 ENSE00000660167 011 20 18516252 18516421 + 45 90 35 G T 18516361 499 110 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGTCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535716 18535717 18535717 exon -26 0.722222222222222 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGTCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 303 1137 1 0.999491453515835 0.999745726757918 NA NA 0.843961294760252 0.919074771646636 NA NA 0.156038705239748 0.0804166818691986 NA 0.881518033203444 NA 0.118227693554473 NA FALSE NA 1 3.83 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 deleterious(0) benign(0.089) NA GGC G,T 8.236e-06 20:18535717 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 4.571559 0.98094 0.94122 0.719381 0.991931269382749 0 6.85928695809641e-14 FALSE 4.06151e-06 ENSE00000660167_012 ENSE00000660167 012 20 18516252 18516421 + 45 90 35 C A 18516362 500 111 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGAATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535717 18535718 18535718 exon -25 0.733333333333333 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGAATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 278 450 1 0.999915384753604 0.999957692376802 NA NA 0.843961294760252 0.919074771646636 NA NA 0.156038705239748 0.0808406131069673 NA 0.881518033203444 NA 0.118439659173358 NA FALSE NA 0.713 0.13 . synonymous_variant LOW SEC23B HGNC 10702 ENST00000377475 12/20 rs201656419 1 A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 GCA C,A 9.884e-05 20:18535718 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 synonymous_variant 2.414508 0.98035 0.8884 0.719381 0.749202645446824 0 6.85928695809641e-14 FALSE 8.52944e-05 ENSE00000660167_013 ENSE00000660167 013 20 18516252 18516421 + 45 90 35 A G 18516363 501 112 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCGTCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535718 18535719 18535719 exon -24 0.744444444444444 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCGTCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 176 43 1 1 1 NA NA 0.843961294760252 0.919074771646636 NA NA 0.156038705239748 0.0809252283533637 NA 0.881518033203444 NA 0.118481966796556 NA FALSE NA 0.79 1.73 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 tolerated(1) benign(0.004) NA CAT A,G 1.647e-05 20:18535719 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 1.035193 0.98146 0.90983 0.719381 0.641438081546537 0 6.85928695809641e-14 FALSE 8.12262e-06 ENSE00000660167_014 ENSE00000660167 014 20 18516252 18516421 + 45 90 35 C G 18516365 502 114 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATGTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535720 18535721 18535721 exon -22 0.766666666666667 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATGTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 13 175 1 1 1 NA NA 0.843961294760252 0.919074771646636 NA NA 0.156038705239748 0.0809252283533637 NA 0.881518033203444 NA 0.118481966796556 NA FALSE NA 0.524 0.054 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 deleterious(0.04) benign(0.098) NA TCT C,G 8.236e-06 20:18535721 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 2.912141 0.96315 0.80536 0.719381 0.955803813267278 0 6.85928695809641e-14 FALSE 8.12288e-06 ENSE00000660167_016 ENSE00000660167 016 20 18516252 18516421 + 45 90 35 G A 18516375 504 124 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAATTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535730 18535731 18535731 exon -12 0.877777777777778 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAATTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 100 1201 0.970298578564151 0.997098106527967 0.983698342546059 NA NA 0.843961294760252 0.919074771646636 NA NA 0.126337283803899 0.078023334881331 NA 0.881518033203444 NA 0.102180309342615 NA FALSE NA 1 7.777 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 tolerated(0.69) benign(0.06) NA AGT G,A 8.236e-06 20:18535731 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 2.69099 0.99409 0.98999 0.706548 0.70551289001333 0 6.85928695809641e-14 FALSE 8.12334e-06 ENSE00000660167_017 ENSE00000660167 017 20 18516252 18516421 + 45 90 35 C T 18516380 505 129 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTTAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535735 18535736 18535736 exon -7 0.933333333333333 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTTAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 324 313 0.987459988959202 0.998898151439929 0.993179070199566 NA NA 0.843961294760252 0.919074771646636 NA NA 0.14349869419895 0.0798233797932928 NA 0.881518033203444 NA 0.111661036996121 NA FALSE NA 0.947 0.03 . synonymous_variant LOW SEC23B HGNC 10702 ENST00000377475 12/20 1 NA TCA C,T 8.236e-06 20:18535736 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 synonymous_variant 2.008749 0.97139 0.77058 0.706548 0.79709780214646 0 6.85928695809641e-14 FALSE 4.06184e-06 ENSE00000660167_018 ENSE00000660167 018 20 18516252 18516421 + 45 90 35 A C 18516381 506 130 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCCATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535736 18535737 18535737 exon -6 0.944444444444444 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCCATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 1948 204 0.999597914030721 1 0.99979895701536 NA NA 0.843961294760252 0.919074771646636 NA NA 0.155636619270469 0.0809252283533637 NA 0.881518033203444 NA 0.118280923811916 NA FALSE NA 1 9.091 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 1 deleterious(0.02) benign(0.314) NA CAA A,C 8.236e-06 20:18535737 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 4.221362 0.9922 0.99283 0.706548 0.996375000368884 0 6.85928695809641e-14 FALSE 4.0619e-06 ENSE00000660167_019 ENSE00000660167 019 20 18516252 18516421 + 45 90 35 A G 18516382 507 131 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAGTCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 18535737 18535738 18535738 exon -5 0.955555555555556 ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAGTCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA mutant NA NA NA NA NA 567 68 0.880092969997192 0.911684555960956 0.895888762979074 NA NA 0.843961294760252 0.919074771646636 NA NA 0.0361316752369398 -0.00739021568568043 NA 0.881518033203444 NA 0.0143707297756297 NA FALSE NA 1 5.127 rs150210442 missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 12/20 rs150210442&COSM723508 1 tolerated(0.34) benign(0.34) NA G:0.0002 G:0 AAT A,G 1.647e-05 20:18535738 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000660167 missense_variant 2.495021 0.98701 0.97527 0.706548 0.998252032640652 0 6.85928695809641e-14 FALSE 8.12361e-06 ENSE00000660167_BRK ENSE00000660167 BRK 20 18516252 18516421 + 45 90 35 A,G; T,T NA NA NA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCTTGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGCCGAGTTGGATTTCTTCACATGTCTTCATGTCTTA 18535607 18535777 NA NA NA NA NA NA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCTTGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGCCGAGTTGGATTTCTTCACATGTCTTCATGTCTTA ATGGTTTTCTGGTTTTGTTTTTCAAATTCCTCTTCCCACCCCCAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGCATCTATTTTGAAGTTGTCAATCAGGTGAGTTGGATTTCTTCACATGTCTTCATGTCTTA control NA NA NA NA NA 212 589 0 0.000858730327663641 0.00042936516383182 NA NA 0.843961294760252 0.919074771646636 NA NA -0.843961294760252 -0.918216041318973 NA 0.881518033203444 NA -0.881088668039612 NA TRUE NA NA NA NA NA NA SEC23B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC23B NA NA NA ENSG00000101310 ENSE00000660167 NA NA NA NA NA NA NA 6.85928695809641e-14 FALSE NA ENSE00000660516_000 ENSE00000660516 000 14 103352476 103352645 + 50 81 39 NA NA NA NA NA AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 NA NA NA NA NA NA AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC natural 149 28 0.838419828260137 0.993549176946281 0.915984502603209 915 675 0.920885885902679 0.983302578905331 0.952094232404005 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 0 0 0 0 0.915984502603209 0.952094232404005 0 0 0 FALSE FALSE NA NA NA NA NA TRAF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF3 NA NA NA ENSG00000131323 ENSE00000660516 NA NA NA NA NA NA NA 0.998405668636195 TRUE NA ENSE00000660516_001 ENSE00000660516 001 14 103352476 103352645 + 50 81 39 T G 103352487 1619 12 AGGAAGACAGGGTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886149 102886150 102886150 upstr_intron -39 -0.76 AGGAAGACAGGGTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant 20 19 0.950920079188736 0.943361153501937 0.947140616345337 209 14 0.998414014687401 1 0.999207007343701 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 0.112500250928598 -0.0501880234443434 0.0775281287847228 0.0166974210946688 0.915984502603209 0.952094232404005 0.0311561137421275 0.0471127749396958 0.0159566611975683 FALSE FALSE 0 -0.568 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 6/11 1 NA GTT T,G 8.237e-06 14:102886150 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant 0.272417 0.16229 0.11109 0.283894 0.766768807432197 0.0579656 0.998405668636195 TRUE 8.1668e-06 ENSE00000660516_002 ENSE00000660516 002 14 103352476 103352645 + 50 81 39 T C 103352490 1620 15 AGGAAGACAGGTTGCGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886152 102886153 102886153 upstr_intron -36 -0.7 AGGAAGACAGGTTGCGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 131 383 0.99745937246327 1 0.998729686231635 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0765734865605917 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0466354538276302 NA FALSE NA 0.376 1.111 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 6/11 1 NA GTG T,C 1.647e-05 14:102886153 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant 0.29508 0.31579 0.39958 0.283894 0.686856622325145 0.579036 0.998405668636195 TRUE 3.26278e-05 ENSE00000660516_003 ENSE00000660516 003 14 103352476 103352645 + 50 81 39 G A 103352507 1621 32 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAATACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886169 102886170 102886170 upstr_intron -19 -0.36 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAATACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 1012 278 0.997795111496967 0.999430680921146 0.998612896209057 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0769092255942881 0.0161281020158152 0.915984502603209 0.952094232404005 NA 0.0465186638050517 NA FALSE NA 0 -0.614 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 6/11 1 NA AGT G,A 8.236e-06 14:102886170 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.120842 0.17003 0.05116 0.256867 0.40084244788971 0.0579656 0.998405668636195 TRUE 4.0661e-06 ENSE00000660516_004 ENSE00000660516 004 14 103352476 103352645 + 50 81 39 C T 103352529 1622 54 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAATACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886191 102886192 102886192 exon 4 0.0493827160493827 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAATACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 62 772 1 0.995574828664602 0.997787414332301 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0122722497592704 0.915984502603209 0.952094232404005 NA 0.045693181928296 NA FALSE NA 1 5.334 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 deleterious(0) probably_damaging(1) NA ACA C,T 8.236e-06 14:102886192 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 5.967365 0.94899 0.92984 0.706298 0.997738466419321 0 0.998405668636195 TRUE 4.06276e-06 ENSE00000660516_005 ENSE00000660516 005 14 103352476 103352645 + 50 81 39 C T 103352531 1623 56 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACATGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886193 102886194 102886194 exon 6 0.0740740740740741 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACATGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 1087 699 0.97235245827884 0.995627986550561 0.9839902224147 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0514665723761613 0.0123254076452295 0.915984502603209 0.952094232404005 NA 0.0318959900106954 NA FALSE NA 0.795 -0.445 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 7/12 rs554723538 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 0.0001483 14:102886194 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 synonymous_variant 1.412035 0.81401 0.31478 0.706298 0.621663078670649 0 0.998405668636195 TRUE 0.000162518 ENSE00000660516_006 ENSE00000660516 006 14 103352476 103352645 + 50 81 39 C T 103352537 1624 62 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGATACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886199 102886200 102886200 exon 12 0.148148148148148 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGATACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 582 784 0.998159900241116 0.999951443561711 0.999055671901414 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0772740143384378 0.01664886465638 0.915984502603209 0.952094232404005 NA 0.0469614394974089 NA FALSE NA 1 1.063 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 7/12 rs368161114 1 NA A:0 A:0.0001 ACA C,T 8.236e-06 14:102886200 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 synonymous_variant 1.462721 0.92104 0.648 0.706298 0.597171311899039 0 0.998405668636195 TRUE 8.12579e-06 ENSE00000660516_007 ENSE00000660516 007 14 103352476 103352645 + 50 81 39 A G 103352538 1625 63 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACGCCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886200 102886201 102886201 exon 13 0.160493827160494 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACGCCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 804 626 0.999846341651046 0.996644512662296 0.998245427156671 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0789604557483672 0.0133419337569644 0.915984502603209 0.952094232404005 NA 0.0461511947526658 NA FALSE NA 1 3.771 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 tolerated(0.26) benign(0.021) NA CAC A,G 8.236e-06 14:102886201 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 1.778602 0.90348 0.84939 0.706298 0.986387491728312 0 0.998405668636195 TRUE 4.06283e-06 ENSE00000660516_008 ENSE00000660516 008 14 103352476 103352645 + 50 81 39 C T 103352540 1626 65 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACTGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886202 102886203 102886203 exon 15 0.185185185185185 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACTGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 149 141 0.998969944030429 1 0.999484972015215 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0780840581277509 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0473907396112098 NA FALSE NA 0.001 -2.268 rs186117694 synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 7/12 rs186117694 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 CCG C,T 0.0001071 14:102886203 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 synonymous_variant 2.131811 0.11691 0.05251 0.706298 0.7421706273725 0 0.998405668636195 TRUE 9.75229e-05 ENSE00000660516_009 ENSE00000660516 009 14 103352476 103352645 + 50 81 39 G A 103352541 1627 66 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCAACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886203 102886204 102886204 exon 16 0.197530864197531 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCAACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 359 176 0.897459839091809 0.989984547956536 0.943722193524172 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA -0.0234260468108697 0.00668196905120433 0.915984502603209 0.952094232404005 NA -0.00837203887983268 NA FALSE NA 1 6.747 rs142439625 missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 rs142439625 1 tolerated(0.16) benign(0.151) NA A:0 A:0.0001 CGA G,A 1.647e-05 14:102886204 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 3.904914 0.94896 0.94987 0.706298 0.997414209133611 0 0.998405668636195 TRUE 1.21899e-05 ENSE00000660516_010 ENSE00000660516 010 14 103352476 103352645 + 50 81 39 A T 103352542 1628 67 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGTCTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886204 102886205 102886205 exon 17 0.209876543209877 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGTCTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 524 67 0.853792861714148 1 0.926896430857074 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA -0.0670930241885308 0.0166974210946688 0.915984502603209 0.952094232404005 NA -0.025197801546931 NA FALSE NA 1 6.384 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 tolerated(0.08) benign(0.004) NA GAC A,T 8.236e-06 14:102886205 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 2.630868 0.94148 0.94727 0.706298 0.837144109691849 0 0.998405668636195 TRUE 4.06279e-06 ENSE00000660516_011 ENSE00000660516 011 14 103352476 103352645 + 50 81 39 C T 103352552 1629 77 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGTGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886214 102886215 102886215 exon 27 0.333333333333333 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGTGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 202 17 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 0.998 0.27 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 7/12 COSM200015 1 NA GCG C,T 1.647e-05 14:102886215 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 synonymous_variant 2.230713 0.85867 0.45083 0.706298 0.603849726988887 0 0.998405668636195 TRUE 8.12803e-06 ENSE00000660516_012 ENSE00000660516 012 14 103352476 103352645 + 50 81 39 G A 103352553 1630 78 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCATGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886215 102886216 102886216 exon 28 0.345679012345679 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCATGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 585 530 0.878650305376492 1 0.939325152688246 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA -0.0422355805261865 0.0166974210946688 0.915984502603209 0.952094232404005 NA -0.0127690797157589 NA FALSE NA 1 6.747 NA NA NA TRAF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:102886216 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 5.567346 0.94992 0.95011 0.706298 0.998291656879746 0 0.998405668636195 TRUE 2.43873e-05 ENSE00000660516_014 ENSE00000660516 014 14 103352476 103352645 + 50 81 39 G A 103352556 1632 81 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGATGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886218 102886219 102886219 exon 31 0.382716049382716 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGATGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 163 433 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 1 2.141 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 tolerated(0.28) benign(0.024) NA GGT G,A 8.236e-06 14:102886219 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 2.839958 0.92088 0.80661 0.706298 0.994673504190015 0 0.998405668636195 TRUE NA ENSE00000660516_015 ENSE00000660516 015 14 103352476 103352645 + 50 81 39 T A 103352562 1633 87 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGACCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886224 102886225 102886225 exon 37 0.45679012345679 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGACCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 842 933 0.928781830132346 0.979560506304327 0.954171168218336 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.00789594422966766 -0.00374207260100456 0.915984502603209 0.952094232404005 NA 0.00207693581433155 NA FALSE NA 1 1.587 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 tolerated(0.72) benign(0.013) NA GTC T,A 8.236e-06 14:102886225 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 2.150834 0.91411 0.82954 0.706298 0.936542520157018 0 0.998405668636195 TRUE 2.03231e-05 ENSE00000660516_016 ENSE00000660516 016 14 103352476 103352645 + 50 81 39 C G 103352563 1634 88 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTGCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886225 102886226 102886226 exon 38 0.469135802469136 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTGCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 77 202 1 0.956717831354781 0.978358915677391 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 -0.0265847475505501 0.915984502603209 0.952094232404005 NA 0.0262646832733857 NA FALSE NA 1 5.334 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 tolerated(0.05) possibly_damaging(0.895) NA TCC C,G 8.236e-06 14:102886226 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 4.97071 0.95089 0.94328 0.706298 0.991857951637598 0 0.998405668636195 TRUE 8.13041e-06 ENSE00000660516_017 ENSE00000660516 017 14 103352476 103352645 + 50 81 39 C T 103352571 1635 96 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTTACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886233 102886234 102886234 exon -36 0.567901234567901 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTTACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 461 589 0.998291419532226 0.970723114415282 0.984507266973754 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0774055336295474 -0.0125794644900493 0.915984502603209 0.952094232404005 NA 0.032413034569749 NA FALSE NA 1 5.334 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 deleterious(0.01) benign(0.101) NA TCA C,T 1.647e-05 14:102886234 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 2.745593 0.95232 0.93035 0.706298 0.997684147097785 0 0.998405668636195 TRUE 8.13438e-06 ENSE00000660516_018 ENSE00000660516 018 14 103352476 103352645 + 50 81 39 C T 103352573 1636 98 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCATAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886235 102886236 102886236 exon -34 0.592592592592593 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCATAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 573 98 0.997584256588779 1 0.998792128294389 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0766983706861004 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0466978958903846 NA FALSE NA 0.992 0.064 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 7/12 1 NA ACA C,T 8.236e-06 14:102886236 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 synonymous_variant 1.464329 0.86609 0.4353 0.706298 0.752440293158628 0 0.998405668636195 TRUE 4.06808e-06 ENSE00000660516_019 ENSE00000660516 019 14 103352476 103352645 + 50 81 39 A G 103352574 1637 99 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACGAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886236 102886237 102886237 exon -33 0.604938271604938 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACGAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 279 43 0.997795657313521 0.995448386101511 0.996622021707516 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0769097714108421 0.0121458071961793 0.915984502603209 0.952094232404005 NA 0.0445277893035107 NA FALSE NA 1 6.384 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 tolerated(0.34) benign(0.042) NA CAA A,G 8.236e-06 14:102886237 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 1.941662 0.94493 0.94716 0.706298 0.997018962649629 0 0.998405668636195 TRUE 4.06841e-06 ENSE00000660516_020 ENSE00000660516 020 14 103352476 103352645 + 50 81 39 G C 103352576 1638 101 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAACTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886238 102886239 102886239 exon -31 0.62962962962963 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAACTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 36 298 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 1 2.607 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:102886239 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 1.419786 0.89712 0.86154 0.706298 0.85698644540525 0 0.998405668636195 TRUE 8.13829e-06 ENSE00000660516_021 ENSE00000660516 021 14 103352476 103352645 + 50 81 39 G A 103352576 1639 101 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAATGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886238 102886239 102886239 exon -31 0.62962962962963 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAATGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 133 110 0.999068011623833 0.982938028500254 0.991003020062043 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.078182125721154 -0.000364550405076991 0.915984502603209 0.952094232404005 NA 0.0389087876580385 NA FALSE NA 1 2.607 NA NA NA TRAF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF3 NA NA NA ENSG00000131323 ENSE00000660516 synonymous_variant 1.246595 0.88957 0.76009 0.706298 0.683626671820127 0 0.998405668636195 TRUE 4.47606e-05 ENSE00000660516_022 ENSE00000660516 022 14 103352476 103352645 + 50 81 39 G A 103352581 1640 106 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAACGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886243 102886244 102886244 exon -26 0.691358024691358 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAACGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 469 170 0.946584179278036 1 0.973292089639018 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0256982933753573 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0211978572350131 NA FALSE NA 1 5.051 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 rs199989168 1 tolerated(0.54) benign(0.021) NA AGC G,A 2.471e-05 14:102886244 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 2.754656 0.95335 0.9272 0.706298 0.997388537170256 0 0.998405668636195 TRUE 3.66542e-05 ENSE00000660516_024 ENSE00000660516 024 14 103352476 103352645 + 50 81 39 C G 103352592 1642 117 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTGTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886254 102886255 102886255 exon -15 0.827160493827161 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTGTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 197 177 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 1 3.685 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 tolerated(0.23) benign(0.122) NA TCT C,G 4.942e-05 14:102886255 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 2.934233 0.95396 0.91548 0.706298 0.997558146533437 0 0.998405668636195 TRUE 1.63313e-05 ENSE00000660516_025 ENSE00000660516 025 14 103352476 103352645 + 50 81 39 C T 103352594 1643 119 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTTCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886256 102886257 102886257 exon -13 0.851851851851852 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTTCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 60 71 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 0.006 -2.069 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 7/12 1 NA TCC C,T 8.237e-06 14:102886257 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 synonymous_variant 1.427352 0.14645 0.0519 0.706298 0.761440587778396 0 0.998405668636195 TRUE 4.08784e-06 ENSE00000660516_026 ENSE00000660516 026 14 103352476 103352645 + 50 81 39 G A 103352604 1644 129 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCAAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886266 102886267 102886267 exon -3 0.975308641975309 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCAAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 922 159 0.990468464298307 0.994287099775244 0.992377782036775 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0695825783956281 0.0109845208699126 0.915984502603209 0.952094232404005 NA 0.0402835496327704 NA FALSE NA 1 6.747 . missense_variant&splice_region_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 7/12 1 deleterious(0.02) possibly_damaging(0.899) NA CGA G,A 8.239e-06 14:102886267 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 missense_variant 5.947211 0.95335 0.95051 0.706298 0.999201613963448 0 0.998405668636195 TRUE 8.24002e-06 ENSE00000660516_027 ENSE00000660516 027 14 103352476 103352645 + 50 81 39 G A 103352610 1645 135 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAAGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886272 102886273 102886273 downstr_intron 4 1.10526315789474 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAAGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 368 733 0.999551820122974 0.993032051662943 0.996291935892958 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0786659342202951 0.00972947275761127 0.915984502603209 0.952094232404005 NA 0.0441977034889532 NA FALSE NA 1 1.692 . splice_region_variant&intron_variant LOW TRAF3 HGNC 12033 ENST00000392745 7/11 rs373815752 1 NA A:0 A:0.0001 AGG G,A 8.258e-06 14:102886273 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 splice_region_variant 0.546611 0.82526 0.43189 0.069865 0.829502839614064 0.171353 0.998405668636195 TRUE 4.18039e-06 ENSE00000660516_028 ENSE00000660516 028 14 103352476 103352645 + 50 81 39 C T 103352614 1646 139 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGTGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886276 102886277 102886277 downstr_intron 8 1.21052631578947 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGTGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 52 462 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 0 -1.346 . splice_region_variant&intron_variant LOW TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA GCG C,T 1.672e-05 14:102886277 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 splice_region_variant 0.792619 0.14394 0.05239 0.069865 0.662471904247333 0.0476449 0.998405668636195 TRUE 1.35494e-05 ENSE00000660516_029 ENSE00000660516 029 14 103352476 103352645 + 50 81 39 G A 103352615 1647 140 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCAGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886277 102886278 102886278 downstr_intron 9 1.23684210526316 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCAGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant 20 10 0.950920079188736 0.85 0.900460039594368 370 184 0.985658354002002 1 0.992829177001001 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 0.112500250928598 -0.143549176946281 0.0647724680993239 0.0166974210946688 0.915984502603209 0.952094232404005 -0.0155244630088411 0.0407349445969963 0.0562594076058375 FALSE FALSE 0.001 -0.19 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA CGG G,A 8.359e-06 14:102886278 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant 0.282825 0.10885 0.0416 0.069865 0.744048495319394 0.0476449 0.998405668636195 TRUE 1.79788e-05 ENSE00000660516_030 ENSE00000660516 030 14 103352476 103352645 + 50 81 39 C T 103352618 1648 143 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCTGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886280 102886281 102886281 downstr_intron 12 1.31578947368421 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCTGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 438 221 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 0 -0.95 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA CCG C,T 4.178e-05 14:102886281 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.102026 0.09851 0.05012 0.069865 0.758490060570801 0.0476449 0.998405668636195 TRUE 5.82369e-05 ENSE00000660516_032 ENSE00000660516 032 14 103352476 103352645 + 50 81 39 G C 103352619 1650 144 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCCGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886281 102886282 102886282 downstr_intron 13 1.34210526315789 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCCGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 55 33 1 0.998838359799461 0.999419179899731 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0155357808941298 0.915984502603209 0.952094232404005 NA 0.0473249474957256 NA FALSE NA 0 -1.994 NA NA NA TRAF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:102886282 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.371332 0.16524 0.07527 0.069865 0.602862843665104 0.0476449 0.998405668636195 TRUE 1.77941e-05 ENSE00000660516_033 ENSE00000660516 033 14 103352476 103352645 + 50 81 39 G T 103352621 1651 146 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGTCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886283 102886284 102886284 downstr_intron 15 1.39473684210526 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGTCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 861 268 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 0.006 0.475 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA GGC G,T 1.669e-05 14:102886284 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.025763 0.21528 0.22758 0.069865 0.625260036161752 0.0476449 0.998405668636195 TRUE NA ENSE00000660516_034 ENSE00000660516 034 14 103352476 103352645 + 50 81 39 C G 103352623 1652 148 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCGCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886285 102886286 102886286 downstr_intron 17 1.44736842105263 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCGCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 39 269 1 0.994436227772395 0.997218113886198 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0111336488670641 0.915984502603209 0.952094232404005 NA 0.0451238814821928 NA FALSE NA 0 0.111 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA CCC C,G 8.344e-06 14:102886286 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.159345 0.16078 0.0902 0.069865 0.539460614353908 0.0476449 0.998405668636195 TRUE 8.88257e-06 ENSE00000660516_035 ENSE00000660516 035 14 103352476 103352645 + 50 81 39 C T 103352624 1653 149 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCTGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886286 102886287 102886287 downstr_intron 18 1.47368421052632 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCTGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 472 393 1 0.999597364308555 0.999798682154277 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0162947854032235 0.915984502603209 0.952094232404005 NA 0.0477044497502725 NA FALSE NA 0 -1.555 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA CCG C,T 3.339e-05 14:102886287 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.07652 0.12897 0.02672 0.069865 0.530159407737506 0.0476449 0.998405668636195 TRUE 2.2382e-05 ENSE00000660516_036 ENSE00000660516 036 14 103352476 103352645 + 50 81 39 G C 103352625 1654 150 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCCGCCGGGAGTCTGTGGAGTCC 102886138 102886308 102886287 102886288 102886288 downstr_intron 19 1.5 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCCGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 1673 482 0.998753943240922 0.99338021928345 0.996067081262186 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0778680573382439 0.0100776403781184 0.915984502603209 0.952094232404005 NA 0.0439728488581811 NA FALSE NA 0 -2.003 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 rs372165619 1 NA T:0 T:0.0001 CGG G,C 8.333e-06 14:102886288 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.561209 0.14176 0.09562 0.069865 0.503308568970411 0.0476449 0.998405668636195 TRUE 8.95656e-06 ENSE00000660516_037 ENSE00000660516 037 14 103352476 103352645 + 50 81 39 G A 103352626 1655 151 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGACCGGGAGTCTGTGGAGTCC 102886138 102886308 102886288 102886289 102886289 downstr_intron 20 1.52631578947368 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGACCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 983 591 0.999412409956113 0.998176339560555 0.998794374758334 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0785265240534342 0.0148737606552238 0.915984502603209 0.952094232404005 NA 0.046700142354329 NA FALSE NA 0 -0.415 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA GGC G,A 8.328e-06 14:102886289 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant 0.037841 0.17797 0.17761 0.069865 0.573487113513681 0.0476449 0.998405668636195 TRUE NA ENSE00000660516_038 ENSE00000660516 038 14 103352476 103352645 + 50 81 39 C G 103352628 1656 153 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCGGGGAGTCTGTGGAGTCC 102886138 102886308 102886290 102886291 102886291 downstr_intron 22 1.57894736842105 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCGGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 453 930 0.997595778403674 0.993424792467151 0.995510285435413 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0767098925009956 0.0101222135618201 0.915984502603209 0.952094232404005 NA 0.0434160530314078 NA FALSE NA 0 -1.113 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA CCG C,G 8.323e-06 14:102886291 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant 0.049428 0.16929 0.07306 0.069865 0.714068869810827 0.0476449 0.998405668636195 TRUE NA ENSE00000660516_039 ENSE00000660516 039 14 103352476 103352645 + 50 81 39 G A 103352629 1657 154 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCAGGAGTCTGTGGAGTCC 102886138 102886308 102886291 102886292 102886292 downstr_intron 23 1.60526315789474 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCAGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant 27 29 0.954727499470801 0.987807884722866 0.971267692096834 77 306 1 0.997729470368843 0.998864735184422 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 0.116307671210664 -0.00574129222341468 0.0791141140973215 0.0144268914635122 0.915984502603209 0.952094232404005 0.0552831894936247 0.0467705027804168 0.00851268671320787 FALSE FALSE 0 -1.234 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA CGG G,A 2.476e-05 14:102886292 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.071483 0.1051 0.01972 0.069865 0.841650617024352 0.0476449 0.998405668636195 TRUE 4.03168e-05 ENSE00000660516_041 ENSE00000660516 041 14 103352476 103352645 + 50 81 39 T C 103352634 1659 159 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGCCTGTGGAGTCC 102886138 102886308 102886296 102886297 102886297 downstr_intron 28 1.73684210526316 AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGCCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC mutant NA NA NA NA NA 430 230 1 1 1 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA 0.0791141140973215 0.0166974210946688 0.915984502603209 0.952094232404005 NA 0.0479057675959951 NA FALSE NA 0 -2.101 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 7/11 1 NA GTC T,C 8.252e-06 14:102886297 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660516 intron_variant -0.538819 0.07486 0.02828 0.069865 0.252484227518002 0.0476449 0.998405668636195 TRUE 4.51859e-06 ENSE00000660516_BRK ENSE00000660516 BRK 14 103352476 103352645 + 50 81 39 A,G; T,T NA NA NA AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTTTAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGCCAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC 102886138 102886308 NA NA NA NA NA NA AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTTTAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGCCAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC AGGAAGACAGGTTGTGTGTTTAAAGTTGATAGTACTTTCTCTCTCTGTAGAAACACGAAGACACCGACTGTCCCTGCGTGGTGGTGTCCTGCCCTCACAAGTGCAGCGTCCAGACTCTCCTGAGGAGCGAGGTAGGGGCGGCCGGGCCCGGCCGGGAGTCTGTGGAGTCC control NA NA NA NA NA 431 476 0 0.0183734105241172 0.00918670526205859 0.838419828260137 0.993549176946281 0.920885885902679 0.983302578905331 NA NA -0.920885885902679 -0.964929168381214 0.915984502603209 0.952094232404005 NA -0.942907527141946 NA TRUE NA NA NA NA NA NA TRAF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF3 NA NA NA ENSG00000131323 ENSE00000660516 NA NA NA NA NA NA NA 0.998405668636195 TRUE NA ENSE00000660518_000 ENSE00000660518 000 14 103357618 103357787 + 44 93 33 NA NA NA NA NA AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 NA NA NA NA NA NA ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT natural 40 36 0.989302910639819 0.99416566083802 0.991734285738919 4969 2837 0.927791106035865 0.961298250107694 0.944544678071779 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 0 0 0 0 0.991734285738919 0.944544678071779 0 0 0 FALSE FALSE NA NA NA NA NA TRAF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF3 NA NA NA ENSG00000131323 ENSE00000660518 NA NA NA NA NA NA NA 0.998405668636195 TRUE NA ENSE00000660518_001 ENSE00000660518 001 14 103357618 103357787 + 44 93 33 C A 103357631 1660 14 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCTAACCTCGCTGCAT 102891280 102891450 102891293 102891294 102891294 upstr_intron -31 -0.681818181818182 ATGCAGCGAGGTTAGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 250 42 0.997167499545483 1 0.998583749772741 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0693763935096183 0.0387017498923057 0.991734285738919 0.944544678071779 NA 0.054039071700962 NA FALSE NA 0.172 0.932 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 8/11 1 NA TCG C,A 1.648e-05 14:102891294 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 intron_variant 0.575389 0.28554 0.08253 0.256867 0.707590477605911 0.0526757 0.998405668636195 TRUE NA ENSE00000660518_002 ENSE00000660518 002 14 103357618 103357787 + 44 93 33 G A 103357632 1661 15 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGTGAACCTCGCTGCAT 102891280 102891450 102891294 102891295 102891295 upstr_intron -30 -0.659090909090909 ATGCAGCGAGGTTCACTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 1039 312 0.998937116289587 0.999877930103978 0.999407523196782 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0711460102537221 0.0385796799962836 0.991734285738919 0.944544678071779 NA 0.0548628451250029 NA FALSE NA 0.192 0.663 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 8/11 1 NA CGC G,A 4.119e-05 14:102891295 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 intron_variant 0.199766 0.30579 0.26401 0.256867 0.807704623729614 0.0526757 0.998405668636195 TRUE 5.93633e-05 ENSE00000660518_003 ENSE00000660518 003 14 103357618 103357787 + 44 93 33 A G 103357646 1662 29 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACACGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891308 102891309 102891309 upstr_intron -16 -0.340909090909091 ATGCAGCGAGGTTCGCTGAATGCCTCACGTGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 122 12 1 0.8 0.9 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0722088939641353 -0.161298250107694 0.991734285738919 0.944544678071779 NA -0.0445446780717795 NA FALSE NA 0 -1.302 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 8/11 rs560306318 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAT A,G 4.119e-05 14:102891309 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 intron_variant 0.132433 0.17519 0.04786 0.256867 0.552318756615127 0.0526757 0.998405668636195 TRUE 4.12851e-05 ENSE00000660518_005 ENSE00000660518 005 14 103357618 103357787 + 44 93 33 G A 103357658 1664 41 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGTGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891320 102891321 102891321 upstr_intron -4 -0.0681818181818182 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCACAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 950 67 0.999751905473396 1 0.999875952736698 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0719607994375312 0.0387017498923057 0.991734285738919 0.944544678071779 NA 0.0553312746649184 NA FALSE NA 0.722 -0.252 . splice_region_variant&intron_variant LOW TRAF3 HGNC 12033 ENST00000392745 8/11 1 NA CGC G,A 8.238e-06 14:102891321 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 splice_region_variant 0.176652 0.57997 0.17066 0.256867 0.923754356507478 0.286407 0.998405668636195 TRUE NA ENSE00000660518_009 ENSE00000660518 009 14 103357618 103357787 + 44 93 33 G A 103357692 1668 75 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGTCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891354 102891355 102891355 exon 31 0.333333333333333 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGACCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 79 94 0.997526497029744 0.998313782914738 0.997920139972241 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0697353909938796 0.0370155328070437 0.991734285738919 0.944544678071779 NA 0.0533754619004617 NA FALSE NA 1 4.683 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 9/12 1 tolerated(0.24) benign(0.003) NA GGC G,A 8.238e-06 14:102891355 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 missense_variant 3.229181 0.98575 0.92614 0.706548 0.993756809405394 0 0.998405668636195 TRUE 4.08864e-06 ENSE00000660518_010 ENSE00000660518 010 14 103357618 103357787 + 44 93 33 C T 103357700 1669 83 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCAGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891362 102891363 102891363 exon 39 0.419354838709677 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCTGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant 129 175 0.85 0.85 0.85 1165 86 0.80903690237613 0.88504194087451 0.84703942162532 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 -0.139302910639819 -0.14416566083802 -0.118754203659735 -0.0762563092331843 0.991734285738919 0.944544678071779 -0.141734285738919 -0.0975052564464594 0.04422902929246 FALSE FALSE 0.057 -1.388 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 9/12 1 NA CCG C,T 0.0001071 14:102891363 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 synonymous_variant 2.430086 0.83537 0.05118 0.706548 0.922514517793473 0 0.998405668636195 TRUE 5.31354e-05 ENSE00000660518_011 ENSE00000660518 011 14 103357618 103357787 + 44 93 33 C T 103357703 1670 86 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACAGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891365 102891366 102891366 exon 42 0.451612903225806 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCTGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant 10 10 0.950920079188736 0.85 0.900460039594368 NA NA NA NA NA 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 -0.0383828314510833 -0.14416566083802 NA NA 0.991734285738919 0.944544678071779 -0.0912742461445515 NA NA NA FALSE 0.004 -1.866 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 9/12 1 NA CCG C,T 8.238e-06 14:102891366 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 synonymous_variant 2.357851 0.10734 0.01567 0.706548 0.926214450182697 0 0.998405668636195 TRUE 4.08807e-06 ENSE00000660518_012 ENSE00000660518 012 14 103357618 103357787 + 44 93 33 G A 103357704 1671 87 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCATGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891366 102891367 102891367 exon 43 0.462365591397849 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCATGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 105 151 0.974583256079647 1 0.987291628039823 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0467921500437822 0.0387017498923057 0.991734285738919 0.944544678071779 NA 0.042746949968044 NA FALSE NA 1 6.325 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 9/12 1 tolerated(0.12) possibly_damaging(0.731) NA CGT G,A 1.648e-05 14:102891367 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 missense_variant 5.640176 0.99115 0.96108 0.706548 0.99876623821914 0 0.998405668636195 TRUE 8.17835e-06 ENSE00000660518_013 ENSE00000660518 013 14 103357618 103357787 + 44 93 33 G A 103357709 1672 92 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGTTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891371 102891372 102891372 exon -46 0.516129032258065 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAACACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 236 67 0.994343758311568 0.995249384862001 0.994796571586784 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.066552652275703 0.0339511347543062 0.991734285738919 0.944544678071779 NA 0.0502518935150046 NA FALSE NA 1 4.606 rs144578195 synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 9/12 rs144578195 1 NA A:0.0002 A:0.0002 AGC G,A 3.295e-05 14:102891372 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 synonymous_variant 1.218063 0.98537 0.91671 0.706548 0.874570491466439 0 0.998405668636195 TRUE 2.04402e-05 ENSE00000660518_014 ENSE00000660518 014 14 103357618 103357787 + 44 93 33 C T 103357712 1673 95 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACATGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891374 102891375 102891375 exon -43 0.548387096774194 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCATGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant 29 40 0.85 0.85 0.85 NA NA NA NA NA 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 -0.139302910639819 -0.14416566083802 NA NA 0.991734285738919 0.944544678071779 -0.141734285738919 NA NA NA FALSE 0.853 -0.356 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 9/12 1 NA ACG C,T 4.119e-05 14:102891375 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 synonymous_variant 2.191986 0.8755 0.21101 0.706548 0.903217273828907 0 0.998405668636195 TRUE 4.49846e-05 ENSE00000660518_016 ENSE00000660518 016 14 103357618 103357787 + 44 93 33 A G 103357717 1675 100 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGCTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891379 102891380 102891380 exon -38 0.602150537634409 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAGCCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 93 754 1 0.990705345664531 0.995352672832266 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0722088939641353 0.0294070955568371 0.991734285738919 0.944544678071779 NA 0.0508079947604862 NA FALSE NA 1 5.986 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 9/12 1 tolerated(0.75) benign(0.007) NA AAC A,G 8.238e-06 14:102891380 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 missense_variant 2.257424 0.9891 0.95445 0.706548 0.9799088171892 0 0.998405668636195 TRUE 8.17929e-06 ENSE00000660518_018 ENSE00000660518 018 14 103357618 103357787 + 44 93 33 C T 103357741 1677 124 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCAAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891403 102891404 102891404 exon -14 0.860215053763441 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTTGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 702 34 0.897462239969197 1 0.948731119984598 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA -0.0303288660666678 0.0387017498923057 0.991734285738919 0.944544678071779 NA 0.00418644191281892 NA FALSE NA 1 2.37 . missense_variant MODERATE TRAF3 HGNC 12033 ENST00000392745 9/12 rs369640883&COSM95387&COSM3361075 1 tolerated(0.34) benign(0.001) T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 T:0.0002 T:0 TCG C,T 0.0002801 14:102891404 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 missense_variant 3.98676 0.97974 0.83437 0.706548 0.996160878304814 0 0.998405668636195 TRUE 0.000239717 ENSE00000660518_019 ENSE00000660518 019 14 103357618 103357787 + 44 93 33 G A 103357742 1678 125 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGTGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891404 102891405 102891405 exon -13 0.870967741935484 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCACTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 83 127 0.997646294843405 0.994095481638916 0.99587088824116 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0698551888075403 0.0327972315312213 0.991734285738919 0.944544678071779 NA 0.0513262101693808 NA FALSE NA 0.999 0.322 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:102891405 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 synonymous_variant 1.628344 0.9563 0.5784 0.706548 0.757363651931703 0 0.998405668636195 TRUE NA ENSE00000660518_020 ENSE00000660518 020 14 103357618 103357787 + 44 93 33 G T 103357742 1679 125 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGAGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891404 102891405 102891405 exon -13 0.870967741935484 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCTCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 16 355 0.997399160656879 0.990070297503812 0.993734729080345 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0696080546210142 0.0287720473961176 0.991734285738919 0.944544678071779 NA 0.0491900510085659 NA FALSE NA 0.999 0.322 NA NA NA TRAF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF3 NA NA NA ENSG00000131323 ENSE00000660518 synonymous_variant 1.27884 0.94563 0.29976 0.706548 0.754596089652072 0 0.998405668636195 TRUE NA ENSE00000660518_021 ENSE00000660518 021 14 103357618 103357787 + 44 93 33 A G 103357748 1680 131 AATCCCATAGCAGCAGGAAAGTGTGCAGCCCACCTTCTTCTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891410 102891411 102891411 exon -7 0.935483870967742 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAGAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 67 22 1 1 1 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0722088939641353 0.0387017498923057 0.991734285738919 0.944544678071779 NA 0.0554553219282205 NA FALSE NA 1 0.993 . synonymous_variant LOW TRAF3 HGNC 12033 ENST00000392745 9/12 1 NA AAA A,G 2.472e-05 14:102891411 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 synonymous_variant 0.062775 0.96174 0.24903 0.706548 0.495457226071404 0 0.998405668636195 TRUE 3.32295e-05 ENSE00000660518_023 ENSE00000660518 023 14 103357618 103357787 + 44 93 33 G A 103357758 1682 141 AATCCCATAGCAGCAGGAAAGTGTGCAGCTCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891420 102891421 102891421 downstr_intron 4 1.125 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGAGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 604 1490 0.992476149334269 0.971598541854951 0.98203734559461 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0646850432984039 0.010300291747257 0.991734285738919 0.944544678071779 NA 0.0374926675228304 NA FALSE NA 0.004 -0.987 . splice_region_variant&intron_variant LOW TRAF3 HGNC 12033 ENST00000392745 9/11 rs200177742 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0032 A:0 GGG G,A 0.0003378 14:102891421 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 splice_region_variant 0.594255 0.22163 0.01011 0.099367 0.547321683277043 0.328306 0.998405668636195 TRUE 0.000236861 ENSE00000660518_024 ENSE00000660518 024 14 103357618 103357787 + 44 93 33 T C 103357761 1683 144 AATCCCATAGCAGCAGGAAAGTGTGCGGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891423 102891424 102891424 downstr_intron 7 1.21875 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCCGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant 31 12 0.907228271785086 1 0.953614135892543 275 619 0.996197634405665 1 0.998098817202832 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 -0.0820746388547334 0.00583433916198028 0.0684065283698003 0.0387017498923057 0.991734285738919 0.944544678071779 -0.0381201498463766 0.053554139131053 0.0916742889774296 FALSE FALSE 0 -1.87 . splice_region_variant&intron_variant LOW TRAF3 HGNC 12033 ENST00000392745 9/11 1 NA CTG T,C 8.241e-06 14:102891424 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 splice_region_variant -0.360249 0.20536 0.00219 0.069865 0.479258153281742 0.0870264 0.998405668636195 TRUE NA ENSE00000660518_025 ENSE00000660518 025 14 103357618 103357787 + 44 93 33 A G 103357766 1684 149 AATCCCATAGCAGCAGGAAAGCGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891428 102891429 102891429 downstr_intron 12 1.375 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACGCTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 551 695 1 0.990461816399652 0.995230908199826 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0722088939641353 0.0291635662919573 0.991734285738919 0.944544678071779 NA 0.0506862301280463 NA FALSE NA 0 -1.99 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 9/11 rs376056808 1 NA G:0.0002 G:0 CAC A,G 1.649e-05 14:102891429 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 intron_variant -0.733568 0.07728 0.00761 0.069865 0.188805061642406 0.046875 0.998405668636195 TRUE 8.64342e-06 ENSE00000660518_027 ENSE00000660518 027 14 103357618 103357787 + 44 93 33 G C 103357777 1686 160 AATCCCATAGGAGCAGGAAAGTGTGCAGCCCACCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCCTGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 102891439 102891440 102891440 downstr_intron 23 1.71875 ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTCCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT mutant NA NA NA NA NA 37 78 0.998882405634073 1 0.999441202817037 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 NA NA 0.0710912995982083 0.0387017498923057 0.991734285738919 0.944544678071779 NA 0.054896524745257 NA FALSE NA 0 -0.461 . intron_variant MODIFIER TRAF3 HGNC 12033 ENST00000392745 9/11 1 NA TGC G,C 8.25e-06 14:102891440 TRAF3 HGNC Symbol protein_coding 134024 ENSG00000131323 ENSE00000660518 intron_variant -0.357503 0.15794 0.01923 0.069865 0.486930660340459 0.046875 0.998405668636195 TRUE 4.59462e-06 ENSE00000660518_BRK ENSE00000660518 BRK 14 103357618 103357787 + 44 93 33 A,G; T,T NA NA NA AATCCCATAGCAGCAGGAAAGTGTGCAGCCCGGCTTCTTTTCGAGCGAGTTGCTCCACTCCTTCAGCAGGTTGACGTGCTGCACGGCGGAGCTGGCCTCGTGGGCCTTGATCTGCTGGTTTGTCCCAAGCGAGAGCAAACATGTGAGGCATTCAGCGAACCTCGCTGCAT 102891280 102891450 NA NA NA NA NA NA ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCTTGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGCCGGGCTGCACACTTTCCTGCTGCTATGGGATT ATGCAGCGAGGTTCGCTGAATGCCTCACATGTTTGCTCTCGCAGGGGACAAACCAGCAGATCAAGGCCCACGAGGCCAGCTCCGCCGTGCAGCACGTCAACCTGCTGAAGGAGTGGAGCAACTCGCTCGAAAAGAAGGTGGGCTGCACACTTTCCTGCTGCTATGGGATT control 279 123 0.00471517089725415 0 0.00235758544862708 49 245 0 0 0 0.989302910639819 0.99416566083802 0.927791106035865 0.961298250107694 -0.984587739742565 -0.99416566083802 -0.927791106035865 -0.961298250107694 0.991734285738919 0.944544678071779 -0.989376700290292 -0.944544678071779 0.0448320222185129 TRUE TRUE NA NA NA NA NA TRAF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF3 NA NA NA ENSG00000131323 ENSE00000660518 NA NA NA NA NA NA NA 0.998405668636195 TRUE NA ENSE00000660559_000 ENSE00000660559 000 14 103470233 103470402 - 32 96 42 NA NA NA NA NA GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 NA NA NA NA NA NA CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC natural NA NA NA NA NA 230 646 0.976982358742866 0.999468028675825 0.988225193709345 NA NA 0.976982358742866 0.999468028675825 NA NA 0 0 NA 0.988225193709345 NA 0 NA FALSE NA NA NA NA NA NA CDC42BPB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC42BPB NA NA NA ENSG00000198752 ENSE00003627041 NA NA NA NA NA NA NA 0.999999999630375 TRUE NA ENSE00000660559_007 ENSE00000660559 007 14 103470233 103470402 - 32 96 42 C T 103470276 1720 127 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTTGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003938 103003939 103003939 exon -12 0.885416666666667 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACAAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 475 209 1 1 1 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 0.00053197132417504 NA 0.988225193709345 NA 0.0117748062906546 NA FALSE NA 1 7.752 . missense_variant MODERATE CDC42BPB HGNC 1738 ENST00000361246 4/37 1 deleterious(0.01) possibly_damaging(0.708) NA TCG C,T 8.236e-06 14:103003939 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 missense_variant 7.22618 0.99593 0.99121 0.706548 0.999243011193133 0 0.999999999630375 TRUE NA ENSE00000660559_009 ENSE00000660559 009 14 103470233 103470402 - 32 96 42 G A 103470286 1722 117 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAAGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003948 103003949 103003949 exon -22 0.78125 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCTTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 274 96 0.982152284975119 1 0.991076142487559 NA NA 0.976982358742866 0.999468028675825 NA NA 0.00516992623225299 0.00053197132417504 NA 0.988225193709345 NA 0.00285094877821401 NA FALSE NA 1 2.457 . synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 COSM3493950 1 NA AGG G,A 8.236e-06 14:103003949 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 synonymous_variant 1.747708 0.98425 0.95015 0.706548 0.942709743625087 0 0.999999999630375 TRUE NA ENSE00000660559_010 ENSE00000660559 010 14 103470233 103470402 - 32 96 42 G A 103470289 1723 114 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCATAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003951 103003952 103003952 exon -25 0.75 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTATGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 125 248 1 0.997979799562742 0.998989899781371 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 -0.00148822911308266 NA 0.988225193709345 NA 0.0107647060720257 NA FALSE NA 0.993 0.142 . synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 1 NA CGT G,A 2.471e-05 14:103003952 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 synonymous_variant 1.03681 0.95779 0.76006 0.706548 0.773960840427434 0 0.999999999630375 TRUE 1.63559e-05 ENSE00000660559_011 ENSE00000660559 011 14 103470233 103470402 - 32 96 42 C T 103470298 1724 105 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGTGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003960 103003961 103003961 exon -34 0.65625 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCACTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 134 97 1 1 1 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 0.00053197132417504 NA 0.988225193709345 NA 0.0117748062906546 NA FALSE NA 0 -5.027 . synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 COSM1607357 1 NA GCG C,T 8.236e-06 14:103003961 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 synonymous_variant 2.726074 0.39298 0.0428 0.706548 0.898321246995688 0 0.999999999630375 TRUE NA ENSE00000660559_012 ENSE00000660559 012 14 103470233 103470402 - 32 96 42 G A 103470299 1725 104 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCACGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003961 103003962 103003962 exon -35 0.645833333333333 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGTGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 91 1095 0.994443554325623 1 0.997221777162811 NA NA 0.976982358742866 0.999468028675825 NA NA 0.017461195582757 0.00053197132417504 NA 0.988225193709345 NA 0.00899658345346604 NA FALSE NA 1 6.507 . missense_variant MODERATE CDC42BPB HGNC 1738 ENST00000361246 4/37 1 deleterious(0.01) benign(0.028) NA CGC G,A 1.647e-05 14:103003962 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 missense_variant 4.689377 0.98314 0.9808 0.706548 0.998482844128176 0 0.999999999630375 TRUE 8.18465e-06 ENSE00000660559_013 ENSE00000660559 013 14 103470233 103470402 - 32 96 42 C T 103470300 1726 103 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGTGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003962 103003963 103003963 exon -36 0.635416666666667 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCACGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 276 72 1 0.973489877028683 0.986744938514341 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 -0.0259781516471423 NA 0.988225193709345 NA -0.00148025519500411 NA FALSE NA 0.988 2.155 . missense_variant MODERATE CDC42BPB HGNC 1738 ENST00000361246 4/37 1 tolerated(1) benign(0.001) NA GCG C,T 1.647e-05 14:103003963 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 missense_variant 1.345509 0.88984 0.32189 0.706548 0.585380069123116 0 0.999999999630375 TRUE 2.86585e-05 ENSE00000660559_014 ENSE00000660559 014 14 103470233 103470402 - 32 96 42 G A 103470301 1727 102 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCAGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003963 103003964 103003964 exon -37 0.625 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACTGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 56 51 1 1 1 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 0.00053197132417504 NA 0.988225193709345 NA 0.0117748062906546 NA FALSE NA 0.003 -1.484 . synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 1 NA CGG G,A 2.471e-05 14:103003964 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 synonymous_variant 1.768589 0.75695 0.07957 0.706548 0.916346129864835 0 0.999999999630375 TRUE 2.04764e-05 ENSE00000660559_016 ENSE00000660559 016 14 103470233 103470402 - 32 96 42 C T 103470318 1729 85 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTTGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003980 103003981 103003981 exon 43 0.447916666666667 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCAACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 231 107 1 0.995989141879688 0.997994570939844 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 -0.0034788867961365 NA 0.988225193709345 NA 0.00976937723049881 NA FALSE NA 1 7.752 . missense_variant MODERATE CDC42BPB HGNC 1738 ENST00000361246 4/37 1 deleterious(0.01) probably_damaging(0.999) NA TCG C,T 1.647e-05 14:103003981 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 missense_variant 7.708745 0.98291 0.97029 0.706548 0.999091045346288 0 0.999999999630375 TRUE 1.64879e-05 ENSE00000660559_017 ENSE00000660559 017 14 103470233 103470402 - 32 96 42 G A 103470322 1730 81 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCATTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003984 103003985 103003985 exon 39 0.40625 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAATGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 412 167 0.987384560155625 1 0.993692280077813 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0104022014127592 0.00053197132417504 NA 0.988225193709345 NA 0.0054670863684671 NA FALSE NA 0.476 -0.302 . synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 rs371426927&COSM4049244 1 NA A:0 A:0.0001 CGT G,A 8.236e-06 14:103003985 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 synonymous_variant 1.502743 0.89131 0.3033 0.706548 0.79803501424877 0 0.999999999630375 TRUE NA ENSE00000660559_018 ENSE00000660559 018 14 103470233 103470402 - 32 96 42 A G 103470334 1731 69 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACGTCGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003996 103003997 103003997 exon 27 0.28125 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGACGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 170 276 1 0.981207684390761 0.99060384219538 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 -0.0182603442850641 NA 0.988225193709345 NA 0.00237864848603503 NA FALSE NA 0.081 -0.454 . synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 1 NA CAT A,G 8.237e-06 14:103003997 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 synonymous_variant -0.632407 0.81297 0.09256 0.706548 0.583843955303147 0 0.999999999630375 TRUE 8.30979e-06 ENSE00000660559_019 ENSE00000660559 019 14 103470233 103470402 - 32 96 42 C T 103470336 1732 67 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATTGCGCTCCTCTCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103003998 103003999 103003999 exon 25 0.260416666666667 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCAATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 669 178 1 0.999110462319458 0.999555231159729 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 -0.000357566356367411 NA 0.988225193709345 NA 0.0113300374503834 NA FALSE NA 0.959 1.439 . missense_variant MODERATE CDC42BPB HGNC 1738 ENST00000361246 4/37 1 tolerated(0.07) benign(0.068) NA TCG C,T 4.118e-05 14:103003999 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 missense_variant 3.145026 0.94033 0.73505 0.706548 0.99808116702691 0 0.999999999630375 TRUE 2.0829e-05 ENSE00000660559_020 ENSE00000660559 020 14 103470233 103470402 - 32 96 42 T G 103470346 1733 57 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCGCGGAAGCACGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103004008 103004009 103004009 exon 15 0.15625 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGCGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 183 284 1 1 1 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 0.00053197132417504 NA 0.988225193709345 NA 0.0117748062906546 NA FALSE NA 0.04 -0.858 . synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 1 NA CTC T,G 2.471e-05 14:103004009 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 synonymous_variant 0.375355 0.86444 0.31962 0.706548 0.562265428639245 0 0.999999999630375 TRUE 8.40661e-06 ENSE00000660559_021 ENSE00000660559 021 14 103470233 103470402 - 32 96 42 C T 103470355 1734 48 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCATGCGGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103004017 103004018 103004018 exon 6 0.0625 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCATGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 23 26 1 1 1 NA NA 0.976982358742866 0.999468028675825 NA NA 0.0230176412571341 0.00053197132417504 NA 0.988225193709345 NA 0.0117748062906546 NA FALSE NA 0 -1.77 . synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 rs375791786 1 NA T:0.0005 T:0 ACG C,T 8.237e-06 14:103004018 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 synonymous_variant 2.239022 0.32126 0.10333 0.706548 0.811072152363986 0 0.999999999630375 TRUE 3.84474e-05 ENSE00000660559_022 ENSE00000660559 022 14 103470233 103470402 - 32 96 42 G A 103470358 1735 45 GCCCTGACCGAGTCTCTGGCTGTGCGACCTACCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCAGTCTGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 103004020 103004021 103004021 exon 3 0.03125 CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACTGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC mutant NA NA NA NA NA 864 157 0.999952359167465 0.998991320786228 0.999471839976847 NA NA 0.976982358742866 0.999468028675825 NA NA 0.022970000424599 -0.000476707889596528 NA 0.988225193709345 NA 0.0112466462675012 NA FALSE NA 0 -2.508 . splice_region_variant&synonymous_variant LOW CDC42BPB HGNC 1738 ENST00000361246 4/37 1 NA CGG G,A 3.295e-05 14:103004021 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00003627041 splice_region_variant 0.581001 0.14174 0.06634 0.706548 0.689305951436049 0 0.999999999630375 TRUE 2.58804e-05 ENSE00000660559_BRK ENSE00000660559 BRK 14 103470233 103470402 - 32 96 42 A,G; T,T NA NA NA GCCCTGACCGAGTCTCTGGCTGTGCGACCTGGCAGGTGGTTCTCGTCCTGAAAGGCGTAGTGCAGCGCGGTGATCCACTGGCAGTCGCCGTTCACCAGCACATCGCGCTCCTCTCGGAAGCACGCGGTAAGCAAAGCAACGAGGGGTGTCAGTCTGTGTTCACTGGGAAG 103003895 103004065 NA NA NA NA NA NA CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCTTACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGCCAGGTCGCACAGCCAGAGACTCGGTCAGGGC CTTCCCAGTGAACACAGACTGACACCCCTCGTTGCTTTGCAGACCGCGTGCTTCCGAGAGGAGCGCGATGTGCTGGTGAACGGCGACTGCCAGTGGATCACCGCGCTGCACTACGCCTTTCAGGACGAGAACCACCTGGTAGGTCGCACAGCCAGAGACTCGGTCAGGGC control 19 17 0 0 0 NA NA NA NA NA NA NA 0.976982358742866 0.999468028675825 NA NA NA NA NA 0.988225193709345 NA NA NA NA NA NA NA NA NA NA CDC42BPB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC42BPB NA NA NA ENSG00000198752 ENSE00003627041 NA NA NA NA NA NA NA 0.999999999630375 TRUE NA ENSE00000660560_000 ENSE00000660560 000 14 103474771 103474940 - 38 84 48 NA NA NA NA NA AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACCTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGGATTTTCATTGCATAAATTCGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATGTGAGTTGAACAAAGATGCGGTTCTTGAACAAAAG 103008433 103008603 NA NA NA NA NA NA CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT natural 13 27 0.997104629877178 0.996487547063257 0.996796088470218 4014 4182 0.970143188682706 0.9841289246913 0.977136056687003 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 0 0 0 0 0.996796088470218 0.977136056687003 0 0 0 FALSE FALSE NA NA NA NA NA CDC42BPB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC42BPB NA NA NA ENSG00000198752 ENSE00000660560 NA NA NA NA NA NA NA 0.999999999630375 TRUE NA ENSE00000660560_005 ENSE00000660560 005 14 103474771 103474940 - 38 84 48 C G 103474809 1745 132 AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACGTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGGATTTTCATTGCATAAATTCGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATGTGAGTTGAACAAAGATGCGGTTCTTGAACAAAAG 103008433 103008603 103008471 103008472 103008472 exon -1 1 CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGACGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT mutant NA NA NA NA NA 163 245 0.999747251717809 0.989397070569895 0.994572161143852 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 NA NA 0.0296040630351028 0.00526814587859503 0.996796088470218 0.977136056687003 NA 0.0174361044568489 NA FALSE NA 1 5.874 . missense_variant&splice_region_variant MODERATE CDC42BPB HGNC 1738 ENST00000361246 3/37 1 deleterious(0) possibly_damaging(0.608) NA CCT C,G 4.118e-05 14:103008472 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00000660560 missense_variant 5.579902 0.99663 0.99677 0.722319 0.998332908320929 0 0.999999999630375 TRUE 2.03069e-05 ENSE00000660560_007 ENSE00000660560 007 14 103474771 103474940 - 38 84 48 G T 103474842 1747 99 AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACCTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGTATTTTCATTGCATAAATTCGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATGTGAGTTGAACAAAGATGCGGTTCTTGAACAAAAG 103008433 103008603 103008504 103008505 103008505 exon -34 0.607142857142857 CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATACTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT mutant NA NA NA NA NA 815 216 0.99847522567143 1 0.999237612835715 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 NA NA 0.0283320369887237 0.0158710753087005 0.996796088470218 0.977136056687003 NA 0.0221015561487121 NA FALSE NA 0.996 0.926 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:103008505 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00000660560 synonymous_variant 1.386592 0.98227 0.93263 0.722319 0.782435091795192 0 0.999999999630375 TRUE 4.06121e-06 ENSE00000660560_008 ENSE00000660560 008 14 103474771 103474940 - 38 84 48 G A 103474842 1748 99 AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACCTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGAATTTTCATTGCATAAATTCGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATGTGAGTTGAACAAAGATGCGGTTCTTGAACAAAAG 103008433 103008603 103008504 103008505 103008505 exon -34 0.607142857142857 CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATTCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT mutant NA NA NA NA NA 1024 343 0.994568094049883 0.989975667096841 0.992271880573362 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 NA NA 0.0244249053671768 0.00584674240554173 0.996796088470218 0.977136056687003 NA 0.0151358238863593 NA FALSE NA 0.996 0.926 NA NA NA CDC42BPB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC42BPB NA NA NA ENSG00000198752 ENSE00000660560 synonymous_variant 1.887687 0.98018 0.86988 0.722319 0.765771635347561 0 0.999999999630375 TRUE 4.06121e-06 ENSE00000660560_009 ENSE00000660560 009 14 103474771 103474940 - 38 84 48 C T 103474861 1749 80 AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACCTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGGATTTTCATTGCATAAATTTGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATGTGAGTTGAACAAAGATGCGGTTCTTGAACAAAAG 103008433 103008603 103008523 103008524 103008524 exon 32 0.380952380952381 CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACAAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT mutant NA NA NA NA NA 95 89 1 0.998218828376378 0.999109414188189 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 NA NA 0.0298568113172937 0.014089903685078 0.996796088470218 0.977136056687003 NA 0.0219733575011858 NA FALSE NA 0.013 3.902 . missense_variant MODERATE CDC42BPB HGNC 1738 ENST00000361246 3/37 COSM4049246 1 tolerated(0.17) benign(0.029) NA TCG C,T 8.237e-06 14:103008524 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00000660560 missense_variant 4.173577 0.98713 0.94538 0.722319 0.997292618717041 0 0.999999999630375 TRUE 4.06147e-06 ENSE00000660560_012 ENSE00000660560 012 14 103474771 103474940 - 38 84 48 G A 103474906 1752 35 AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACCTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGGATTTTCATTGCATAAATTCGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATATGAGTTGAACAAAGATGCGGTTCTTGAACAAAAG 103008433 103008603 103008568 103008569 103008569 upstr_intron -14 -0.270833333333333 CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCATATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT mutant NA NA NA NA NA 179 700 0.996262385265313 0.981762406247492 0.989012395756403 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 NA NA 0.026119196582607 -0.00236651844380775 0.996796088470218 0.977136056687003 NA 0.0118763390693996 NA FALSE NA 0 0.253 . intron_variant MODIFIER CDC42BPB HGNC 1738 ENST00000361246 2/36 1 NA TGT G,A 2.471e-05 14:103008569 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00000660560 intron_variant 0.184399 0.15368 0.03145 0.099367 0.541694038204527 0.0968874 0.999999999630375 TRUE 1.62627e-05 ENSE00000660560_013 ENSE00000660560 013 14 103474771 103474940 - 38 84 48 C T 103474924 1753 17 AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACCTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGGATTTTCATTGCATAAATTCGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATGTGAGTTGAACAAAGATGTGGTTCTTGAACAAAAG 103008433 103008603 103008586 103008587 103008587 upstr_intron -32 -0.645833333333333 CTTTTGTTCAAGAACCACATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT mutant NA NA NA NA NA 2521 311 0.865456368141139 0.989035244457478 0.927245806299309 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 NA NA -0.104686820541567 0.00490631976617861 0.996796088470218 0.977136056687003 NA -0.0498902503876944 NA FALSE NA 0 -2.396 . intron_variant MODIFIER CDC42BPB HGNC 1738 ENST00000361246 2/36 1 NA GCG C,T 8.237e-06 14:103008587 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00000660560 intron_variant -0.134675 0.14114 0.00446 0.099367 0.59927491946067 0.0995852 0.999999999630375 TRUE 2.04395e-05 ENSE00000660560_014 ENSE00000660560 014 14 103474771 103474940 - 38 84 48 G A 103474925 1754 16 AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACCTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGGATTTTCATTGCATAAATTCGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATGTGAGTTGAACAAAGATGCAGTTCTTGAACAAAAG 103008433 103008603 103008587 103008588 103008588 upstr_intron -33 -0.666666666666667 CTTTTGTTCAAGAACTGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT mutant NA NA NA NA NA 676 1263 0.998468035945253 0.996737852132672 0.997602944038963 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 NA NA 0.0283248472625467 0.0126089274413729 0.996796088470218 0.977136056687003 NA 0.0204668873519598 NA FALSE NA 0 -1.249 . intron_variant MODIFIER CDC42BPB HGNC 1738 ENST00000361246 2/36 1 NA CGG G,A 4.942e-05 14:103008588 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00000660560 intron_variant -0.118405 0.13987 0.01193 0.099367 0.512533756581485 0.0995852 0.999999999630375 TRUE 6.1279e-05 ENSE00000660560_016 ENSE00000660560 016 14 103474771 103474940 - 38 84 48 C T 103474929 1756 12 AAGCCCCATTTGTATGGCTTTTCAAGCTCCATACTTACCTCTGCTCTTTTCAGCATCTCCCACTTGTTGAGGATTTTCATTGCATAAATTCGTTCAGTATTCTTCATTTTGACAACAGCAACCTGCAGTGCAAATGTGAGTTGAACAAAGATGCGGTTTTTGAACAAAAG 103008433 103008603 103008591 103008592 103008592 upstr_intron -37 -0.75 CTTTTGTTCAAAAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT CTTTTGTTCAAGAACCGCATCTTTGTTCAACTCACATTTGCACTGCAGGTTGCTGTTGTCAAAATGAAGAATACTGAACGAATTTATGCAATGAAAATCCTCAACAAGTGGGAGATGCTGAAAAGAGCAGAGGTAAGTATGGAGCTTGAAAAGCCATACAAATGGGGCTT mutant NA NA NA NA NA 241 814 1 0.995162694992398 0.997581347496199 0.997104629877178 0.996487547063257 0.970143188682706 0.9841289246913 NA NA 0.0298568113172937 0.0110337703010984 0.996796088470218 0.977136056687003 NA 0.020445290809196 NA FALSE NA 0 -1.082 . intron_variant MODIFIER CDC42BPB HGNC 1738 ENST00000361246 2/36 1 NA TCT C,T 8.237e-06 14:103008592 CDC42BPB HGNC Symbol protein_coding 125083 ENSG00000198752 ENSE00000660560 intron_variant -0.340889 0.07635 0.01914 0.099367 0.538445869671961 0.0995852 0.999999999630375 TRUE 4.09035e-06 ENSE00000661764_000 ENSE00000661764 000 20 35309183 35309352 - 36 87 47 NA NA NA NA NA CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 NA NA NA NA NA NA CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT natural 113 131 0.937759152807412 0.85453188257957 0.896145517693491 1204 927 0.976388674280309 0.99495767810685 0.985673176193579 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 0 0 0 0 0.896145517693491 0.985673176193579 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG3 NA NA NA ENSG00000101079 ENSE00003134873 NA NA NA NA NA NA NA 0.919621043818656 TRUE NA ENSE00000661764_007 ENSE00000661764 007 20 35309183 35309352 - 36 87 47 G A 35309252 991 101 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGTGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680848 36680849 36680849 exon -34 0.620689655172414 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGTGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 53 16 1 0.95 0.975 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA 0.0236113257196915 -0.0449576781068496 0.896145517693491 0.985673176193579 NA -0.010673176193579 NA FALSE NA 0.998 0.661 NA NA NA NDRG3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:36680849 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 synonymous_variant 1.450155 0.90982 0.23969 0.706548 0.476588733973844 0 0.919621043818656 TRUE 0.000101531 ENSE00000661764_009 ENSE00000661764 009 20 35309183 35309352 - 36 87 47 A G 35309254 993 99 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTCGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680850 36680851 36680851 exon -36 0.597701149425287 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTCGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 84 32 1 1 1 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA 0.0236113257196915 0.00504232189315046 0.896145517693491 0.985673176193579 NA 0.014326823806421 NA FALSE NA 1 8.53 . missense_variant MODERATE NDRG3 HGNC 14462 ENST00000422536 6/8 1 tolerated(0.08) probably_damaging(0.948) NA CAA A,G 8.236e-06 20:36680851 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 missense_variant 5.032815 0.99046 0.98463 0.706548 0.994214109008943 0 0.919621043818656 TRUE 4.06105e-06 ENSE00000661764_010 ENSE00000661764 010 20 35309183 35309352 - 36 87 47 A G 35309262 994 91 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGCTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680858 36680859 36680859 exon -44 0.505747126436782 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGCTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 58 158 1 1 1 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA 0.0236113257196915 0.00504232189315046 0.896145517693491 0.985673176193579 NA 0.014326823806421 NA FALSE NA 0.996 8.53 . missense_variant MODERATE NDRG3 HGNC 14462 ENST00000422536 6/8 1 deleterious(0.03) benign(0.37) NA AAC A,G 1.647e-05 20:36680859 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 missense_variant 4.70336 0.99033 0.98446 0.706548 0.998092486253328 0 0.919621043818656 TRUE 8.12209e-06 ENSE00000661764_011 ENSE00000661764 011 20 35309183 35309352 - 36 87 47 A G 35309268 995 85 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCACTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680864 36680865 36680865 exon 38 0.436781609195402 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCACTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 34 587 1 0.999935141155493 0.999967570577747 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA 0.0236113257196915 0.00497746304864355 0.896145517693491 0.985673176193579 NA 0.0142943943841675 NA FALSE NA 1 8.53 . missense_variant MODERATE NDRG3 HGNC 14462 ENST00000422536 6/8 rs531105190 1 deleterious(0) probably_damaging(0.969) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAT A,G 8.236e-06 20:36680865 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 missense_variant 6.069789 0.99023 0.98463 0.706548 0.998560429042627 0 0.919621043818656 TRUE NA ENSE00000661764_012 ENSE00000661764 012 20 35309183 35309352 - 36 87 47 T C 35309269 996 84 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCGTTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680865 36680866 36680866 exon 37 0.425287356321839 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCGTTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 10 92 1 1 1 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA 0.0236113257196915 0.00504232189315046 0.896145517693491 0.985673176193579 NA 0.014326823806421 NA FALSE NA 1 7.331 . missense_variant MODERATE NDRG3 HGNC 14462 ENST00000422536 6/8 1 tolerated(0.16) possibly_damaging(0.507) NA ATG T,C 8.236e-06 20:36680866 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 missense_variant 2.441751 0.98964 0.97433 0.706548 0.988601434182583 0 0.919621043818656 TRUE 4.06085e-06 ENSE00000661764_013 ENSE00000661764 013 20 35309183 35309352 - 36 87 47 C T 35309281 997 72 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAAGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680877 36680878 36680878 exon 25 0.28735632183908 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAAGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 41 119 0.932826698006452 1 0.966413349003226 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA -0.0435619762738565 0.00504232189315046 0.896145517693491 0.985673176193579 NA -0.019259827190353 NA FALSE NA 1 7.131 . missense_variant MODERATE NDRG3 HGNC 14462 ENST00000422536 6/8 1 tolerated(0.05) probably_damaging(0.983) NA CCT C,T 1.647e-05 20:36680878 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 missense_variant 6.003815 0.99204 0.97626 0.706548 0.998659794094117 0 0.919621043818656 TRUE 2.03064e-05 ENSE00000661764_014 ENSE00000661764 014 20 35309183 35309352 - 36 87 47 T C 35309301 998 52 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAGCCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680897 36680898 36680898 exon 5 0.0574712643678161 CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAGCCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 178 795 0.95 0.959273050208961 0.95463652510448 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA -0.0263886742803086 -0.0356846278978888 0.896145517693491 0.985673176193579 NA -0.0310366510890987 NA FALSE NA 0.997 0.2 . missense_variant MODERATE NDRG3 HGNC 14462 ENST00000422536 6/8 1 tolerated(0.53) benign(0.043) NA GTT T,C 1.647e-05 20:36680898 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 missense_variant -0.684662 0.96772 0.7627 0.706548 0.60919644620745 0 0.919621043818656 TRUE 1.21853e-05 ENSE00000661764_016 ENSE00000661764 016 20 35309183 35309352 - 36 87 47 A G 35309326 1000 27 CTGTGGGAGTGTAGCTTTCATACTATCGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680922 36680923 36680923 upstr_intron -21 -0.425531914893617 CTGTGGGAGTGTAGCTTTCATACTATCGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 44 59 0.95 0.95 0.95 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA -0.0263886742803086 -0.0449576781068495 0.896145517693491 0.985673176193579 NA -0.035673176193579 NA FALSE NA 0.602 2.108 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000422536 5/7 rs370580498 1 NA G:0.0002 G:0 CAA A,G 8.236e-06 20:36680923 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 intron_variant 0.180043 0.77898 0.26091 0.062308 0.687231568787453 0.145665 0.919621043818656 TRUE NA ENSE00000661764_017 ENSE00000661764 017 20 35309183 35309352 - 36 87 47 T C 35309328 1001 25 CTGTGGGAGTGTAGCTTTCATACTGTTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680924 36680925 36680925 upstr_intron -23 -0.468085106382979 CTGTGGGAGTGTAGCTTTCATACTGTTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 27 121 0.985422492933877 1 0.992711246466939 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA 0.00903381865356845 0.00504232189315046 0.896145517693491 0.985673176193579 NA 0.00703807027335945 NA FALSE NA 0 -1.68 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000422536 5/7 1 NA ATA T,C 8.236e-06 20:36680925 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 intron_variant -0.031639 0.1634 0.00635 0.062308 0.68263578646533 0.132124 0.919621043818656 TRUE 4.07063e-06 ENSE00000661764_018 ENSE00000661764 018 20 35309183 35309352 - 36 87 47 G A 35309334 1002 19 CTGTGGGAGTGTAGCTTTTATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680930 36680931 36680931 upstr_intron -29 -0.595744680851064 CTGTGGGAGTGTAGCTTTTATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 1558 153 0.970862413764791 0.966205874289677 0.968534144027234 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA -0.00552626051551741 -0.0287518038171729 0.896145517693491 0.985673176193579 NA -0.0171390321663452 NA FALSE NA 0 0.008 rs189947765 intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000422536 5/7 rs189947765 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGA G,A 6.589e-05 20:36680931 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 intron_variant -0.108801 0.22044 0.09169 0.062308 0.373750523066533 0.132124 0.919621043818656 TRUE 5.71223e-05 ENSE00000661764_019 ENSE00000661764 019 20 35309183 35309352 - 36 87 47 A C 35309335 1003 18 CTGTGGGAGTGTAGCTTGCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT 36680779 36680949 36680931 36680932 36680932 upstr_intron -30 -0.617021276595745 CTGTGGGAGTGTAGCTTGCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT CTGTGGGAGTGTAGCTTTCATACTATTGTCTTTGCCTCATCTTTCAGCTCAACCATCCAGAGCTTGTGGAAGGCCTTGTGCTCATTAATGTTGACCCTTGCGCTAAAGGCTGGATTGACTGGGCAGCTTCCAAAGTAAGTACCACATGAAGGTGTCCATCGGCTTATCTT mutant NA NA NA NA NA 42 79 0.8 0.8 0.8 0.937759152807412 0.85453188257957 0.976388674280309 0.99495767810685 NA NA -0.176388674280308 -0.194957678106849 0.896145517693491 0.985673176193579 NA -0.185673176193579 NA FALSE NA 0 2.111 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000422536 5/7 1 NA GAA A,C 8.236e-06 20:36680932 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003134873 intron_variant -0.137043 0.26442 0.13111 0.062308 0.736888216844547 0.132124 0.919621043818656 TRUE 4.0803e-06 ENSE00000661950_000 ENSE00000661950 000 20 36995353 36995522 + 60 60 50 NA NA NA NA NA CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 NA NA NA NA NA NA CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC natural 18 12 0.992650995563306 0.980236046263678 0.986443520913492 2132 4009 0.968063050997549 0.838185299021117 0.903124175009333 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 0 0 0 0 0.986443520913492 0.903124175009333 0 0 0 FALSE FALSE NA NA NA NA NA LBP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LBP NA NA NA ENSG00000129988 ENSE00000661950 NA NA NA NA NA NA NA 5.69197086647934e-14 FALSE NA ENSE00000661950_001 ENSE00000661950 001 20 36995353 36995522 + 60 60 50 T G 36995368 1174 16 CTTTAGACCTTCAGCGCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366723 38366724 38366724 upstr_intron -45 -0.733333333333333 CTTTAGACCTTCAGCGCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 15 900 1 0.989305728433242 0.994652864216621 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.151120429412125 0.986443520913492 0.903124175009333 NA 0.0915286892072882 NA FALSE NA 0.006 0.225 . intron_variant MODIFIER LBP HGNC 6517 ENST00000217407 8/14 1 NA CTC T 8.236e-06 20:38366724 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 intron_variant 0.323483 0.13846 0.04345 0.053691 0.625976449568602 0.0455939 5.69197086647934e-14 FALSE 4.07677e-06 ENSE00000661950_002 ENSE00000661950 002 20 36995353 36995522 + 60 60 50 C T 36995373 1175 21 CTTTAGACCTTCAGCTCCAGTGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366728 38366729 38366729 upstr_intron -40 -0.65 CTTTAGACCTTCAGCTCCAGTGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 128 50 1 0.993620542821393 0.996810271410696 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.155435243800276 0.986443520913492 0.903124175009333 NA 0.0936860964013634 NA FALSE NA 0 -2.471 . intron_variant MODIFIER LBP HGNC 6517 ENST00000217407 8/14 rs371151497 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 GCG C 4.942e-05 20:38366729 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 intron_variant -0.269445 0.09634 0.00509 0.053691 0.777884779807471 0.0455939 5.69197086647934e-14 FALSE 3.26022e-05 ENSE00000661950_003 ENSE00000661950 003 20 36995353 36995522 + 60 60 50 G A 36995374 1176 22 CTTTAGACCTTCAGCTCCAGCAGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366729 38366730 38366730 upstr_intron -39 -0.633333333333333 CTTTAGACCTTCAGCTCCAGCAGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 1450 736 1 1 1 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.096875824990667 NA FALSE NA 0 -2.088 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:38366730 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 intron_variant -0.095945 0.13446 0.00321 0.053691 0.786637084839385 0.0455939 5.69197086647934e-14 FALSE 0.00131579 ENSE00000661950_004 ENSE00000661950 004 20 36995353 36995522 + 60 60 50 G T 36995374 1177 22 CTTTAGACCTTCAGCTCCAGCTGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366729 38366730 38366730 upstr_intron -39 -0.633333333333333 CTTTAGACCTTCAGCTCCAGCTGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 793 732 0.998485224797995 0.997300387802442 0.997892806300218 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.030422173800446 0.159115088781325 0.986443520913492 0.903124175009333 NA 0.0947686312908854 NA FALSE NA 0 -2.088 NA NA NA LBP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LBP NA NA NA ENSG00000129988 ENSE00000661950 intron_variant -0.278366 0.14148 0.00854 0.053691 0.786197426056605 0.0455939 5.69197086647934e-14 FALSE 1.62946e-05 ENSE00000661950_005 ENSE00000661950 005 20 36995353 36995522 + 60 60 50 A G 36995396 1178 44 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCGTGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366751 38366752 38366752 upstr_intron -17 -0.266666666666667 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCGTGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 53 132 1 0.976528849260199 0.9882644246301 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.138343550239082 0.986443520913492 0.903124175009333 NA 0.0851402496207667 NA FALSE NA 0.001 -0.583 rs2232609 intron_variant MODIFIER LBP HGNC 6517 ENST00000217407 8/14 rs2232609 1 G:0.0290 G:0.1036 G:0.0101 NA G:0.001 G:0 G:0 G:0.0828 G:0.0005 CAT G 0.007932 20:38366752 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 intron_variant -0.139774 0.08542 0.00106 0.053691 0.315218568784372 0.0455939 5.69197086647934e-14 FALSE 0.00624665 ENSE00000661950_007 ENSE00000661950 007 20 36995353 36995522 + 60 60 50 C G 36995400 1180 48 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTGTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366755 38366756 38366756 upstr_intron -13 -0.2 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTGTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 430 122 1 0.966835066451158 0.983417533225579 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.128649767430041 0.986443520913492 0.903124175009333 NA 0.0802933582162459 NA FALSE NA 0.13 -0.269 . intron_variant MODIFIER LBP HGNC 6517 ENST00000217407 8/14 1 NA TCT C 8.236e-06 20:38366756 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 intron_variant 0.061266 0.1895 0.02799 0.053691 0.438179751858809 0.0455939 5.69197086647934e-14 FALSE 4.06382e-06 ENSE00000661950_008 ENSE00000661950 008 20 36995353 36995522 + 60 60 50 G C 36995412 1181 60 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCACATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366767 38366768 38366768 upstr_intron -1 0 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCACATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 67 61 0.0558538208131481 0 0.027926910406574 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA -0.912209230184401 -0.838185299021117 0.986443520913492 0.903124175009333 NA -0.875197264602759 NA TRUE NA 1 4.711 . splice_acceptor_variant HIGH LBP HGNC 6517 ENST00000217407 8/14 rs566660710 1 C:0.0010 C:0 C:0 NA C:0 C:0 C:0.0051 HC AGA G 0.0004448 20:38366768 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 splice_acceptor_variant 3.609464 0.98287 0.93349 0.053691 0.989521192125014 0.960873 5.69197086647934e-14 FALSE 0.0003819 ENSE00000661950_009 ENSE00000661950 009 20 36995353 36995522 + 60 60 50 T G 36995414 1182 62 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGAGACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366769 38366770 38366770 exon 2 0.0333333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGAGACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 163 414 0.927478793514779 0.929609789035218 0.928544291274999 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA -0.0405842574827701 0.0914244900141012 0.986443520913492 0.903124175009333 NA 0.0254201162656656 NA FALSE NA 1 3.824 . missense_variant&splice_region_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 1 deleterious(0) probably_damaging(0.953) NA ATA T 8.236e-06 20:38366770 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 4.849432 0.97295 0.89648 0.554377 0.987020614929901 0 5.69197086647934e-14 FALSE 1.21869e-05 ENSE00000661950_010 ENSE00000661950 010 20 36995353 36995522 + 60 60 50 C T 36995417 1183 65 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACTGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366772 38366773 38366773 exon 5 0.0833333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACTGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 25 161 1 0.924768259752287 0.962384129876144 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.0865829607311703 0.986443520913492 0.903124175009333 NA 0.0592599548668107 NA FALSE NA 0.989 3.728 rs150838547 missense_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 rs150838547&COSM1026647 1 deleterious(0) possibly_damaging(0.864) NA T:0 T:0.0002 CCG C 0.0001812 20:38366773 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 5.384181 0.94059 0.84216 0.554377 0.99682282244228 0 5.69197086647934e-14 FALSE 0.000113739 ENSE00000661950_012 ENSE00000661950 012 20 36995353 36995522 + 60 60 50 G A 36995418 1185 66 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCACCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366773 38366774 38366774 exon 6 0.1 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCACCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 344 225 0.994074444412591 0.999830679581554 0.996952561997072 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0260113934150416 0.161645380560437 0.986443520913492 0.903124175009333 NA 0.0938283869877394 NA FALSE NA 0 -4.279 NA NA NA LBP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:38366774 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 synonymous_variant 0.364283 0.04329 0.00194 0.554377 0.553479724067085 0 5.69197086647934e-14 FALSE NA ENSE00000661950_013 ENSE00000661950 013 20 36995353 36995522 + 60 60 50 C A 36995419 1186 67 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGACTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366774 38366775 38366775 exon 7 0.116666666666667 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGACTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 1515 134 0.999189824799508 0.980918881006286 0.990054352902897 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0311267738019593 0.142733581985169 0.986443520913492 0.903124175009333 NA 0.0869301778935643 NA FALSE NA 0 -0.625 . missense_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 1 tolerated(0.46) benign(0.292) NA GCC C 2.471e-05 20:38366775 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 0.409135 0.20681 0.03119 0.554377 0.967947181355038 0 5.69197086647934e-14 FALSE 1.21857e-05 ENSE00000661950_014 ENSE00000661950 014 20 36995353 36995522 + 60 60 50 C T 36995426 1187 74 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTTTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366781 38366782 38366782 exon 14 0.233333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTTTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 1190 270 1 1 1 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.096875824990667 NA FALSE NA 0.004 0.248 . missense_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 rs374109956 1 tolerated(0.19) benign(0.168) NA T:0 T:0.0001 TCT C 8.236e-06 20:38366782 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 0.689714 0.23773 0.028 0.554377 0.766143931486422 0 5.69197086647934e-14 FALSE 4.06171e-06 ENSE00000661950_017 ENSE00000661950 017 20 36995353 36995522 + 60 60 50 G A 36995435 1190 83 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCAACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366790 38366791 38366791 exon 23 0.383333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCAACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 145 404 1 0.99472558873683 0.997362794368415 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.156540289715713 0.986443520913492 0.903124175009333 NA 0.0942386193590822 NA FALSE NA 0.773 2.124 . missense_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 COSM3405069 1 tolerated(0.16) benign(0.2) NA CGA G 8.236e-06 20:38366791 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 1.856603 0.34963 0.47072 0.554377 0.984006205786758 0 5.69197086647934e-14 FALSE 8.12427e-06 ENSE00000661950_018 ENSE00000661950 018 20 36995353 36995522 + 60 60 50 C T 36995437 1191 85 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGATTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366792 38366793 38366793 exon 25 0.416666666666667 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGATTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 29 22 1 1 1 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.096875824990667 NA FALSE NA 0.948 0.973 . synonymous_variant LOW LBP HGNC 6517 ENST00000217407 9/15 1 NA ACT C 8.236e-06 20:38366793 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 synonymous_variant 1.527768 0.92297 0.56921 0.554377 0.571343204114055 0 5.69197086647934e-14 FALSE 4.06157e-06 ENSE00000661950_019 ENSE00000661950 019 20 36995353 36995522 + 60 60 50 T C 36995438 1192 86 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACCGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366793 38366794 38366794 exon 26 0.433333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACCGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 406 198 0.996501835661567 1 0.998250917830783 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0284387846640177 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.0951267428214503 NA FALSE NA 1 3.824 . missense_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 1 deleterious(0) probably_damaging(0.995) NA CTG T 8.236e-06 20:38366794 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 5.780638 0.97903 0.88629 0.554377 0.998885258952024 0 5.69197086647934e-14 FALSE NA ENSE00000661950_020 ENSE00000661950 020 20 36995353 36995522 + 60 60 50 C T 36995441 1193 89 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGATCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366796 38366797 38366797 exon 29 0.483333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGATCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 11 93 1 1 1 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.096875824990667 NA FALSE NA 0.996 0.112 . missense_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 1 deleterious(0.02) possibly_damaging(0.703) NA ACC C 8.237e-06 20:38366797 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 5.073882 0.95735 0.53551 0.554377 0.997495201061889 0 5.69197086647934e-14 FALSE 8.12321e-06 ENSE00000661950_021 ENSE00000661950 021 20 36995353 36995522 + 60 60 50 C A 36995445 1194 93 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACAAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366800 38366801 38366801 exon -28 0.55 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACAAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 302 130 1 1 1 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.096875824990667 NA FALSE NA 1 0.958 . synonymous_variant LOW LBP HGNC 6517 ENST00000217407 9/15 1 NA CCA C 8.236e-06 20:38366801 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 synonymous_variant 2.468409 0.96841 0.78918 0.554377 0.600008528421199 0 5.69197086647934e-14 FALSE 4.06147e-06 ENSE00000661950_023 ENSE00000661950 023 20 36995353 36995522 + 60 60 50 C T 36995455 1196 103 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCTGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366810 38366811 38366811 exon -18 0.716666666666667 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCTGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 74 103 1 0.999629659113494 0.999814829556747 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161444360092377 0.986443520913492 0.903124175009333 NA 0.0966906545474142 NA FALSE NA 0.998 0.878 . stop_gained HIGH LBP HGNC 6517 ENST00000217407 9/15 COSM1213137 1 NA HC CCG C 1.647e-05 20:38366811 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 stop_gained 14.9151 0.97227 0.62223 0.554377 0.997094879261748 0 5.69197086647934e-14 FALSE 8.12315e-06 ENSE00000661950_024 ENSE00000661950 024 20 36995353 36995522 + 60 60 50 G A 36995456 1197 104 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCAACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366811 38366812 38366812 exon -17 0.733333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCAACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 868 316 0.997647323406655 0.978381936411288 0.988014629908971 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0295842724091057 0.140196637390171 0.986443520913492 0.903124175009333 NA 0.0848904548996384 NA FALSE NA 0.987 2.191 . missense_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 rs373530154 1 tolerated(0.2) possibly_damaging(0.642) NA CGA G 2.471e-05 20:38366812 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 5.481307 0.98126 0.79699 0.554377 0.998852550054468 0 5.69197086647934e-14 FALSE 1.62475e-05 ENSE00000661950_025 ENSE00000661950 025 20 36995353 36995522 + 60 60 50 C G 36995458 1198 106 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGAGCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366813 38366814 38366814 exon -15 0.766666666666667 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGAGCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 328 143 0.993393442889818 0.988286433681034 0.990839938285426 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0253303918922689 0.150101134659916 0.986443520913492 0.903124175009333 NA 0.0877157632760927 NA FALSE NA 0 -0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:38366814 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant -2.168367 0.1073 0.0029 0.554377 0.139569797909978 0 5.69197086647934e-14 FALSE 4.06154e-06 ENSE00000661950_026 ENSE00000661950 026 20 36995353 36995522 + 60 60 50 C A 36995458 1199 106 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGAACCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366813 38366814 38366814 exon -15 0.766666666666667 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGAACCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 436 362 1 1 1 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.096875824990667 NA FALSE NA 0 -0.88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LBP NA NA NA ENSG00000129988 ENSE00000661950 missense_variant -1.053385 0.18841 0.0151 0.554377 0.300111495219636 0 5.69197086647934e-14 FALSE 4.06154e-06 ENSE00000661950_027 ENSE00000661950 027 20 36995353 36995522 + 60 60 50 C A 36995459 1200 107 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACACTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366814 38366815 38366815 exon -14 0.783333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACACTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 1197 287 0.994077020007425 1 0.997038510003712 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0260139690098757 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.0939143349943793 NA FALSE NA 0.131 0.863 NA NA NA LBP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:38366815 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 2.702355 0.2282 0.07945 0.554377 0.975210986522055 0 5.69197086647934e-14 FALSE 4.87373e-05 ENSE00000661950_030 ENSE00000661950 030 20 36995353 36995522 + 60 60 50 G A 36995464 1203 112 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCATCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366819 38366820 38366820 exon -9 0.866666666666667 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCATCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 47 69 1 1 1 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.096875824990667 NA FALSE NA 0 -1.227 rs143256886 missense_variant MODERATE LBP HGNC 6517 ENST00000217407 9/15 rs143256886 1 tolerated(1) benign(0.047) A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGT G 2.471e-05 20:38366820 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant -1.094548 0.16822 0.01401 0.554377 0.356398389997419 0 5.69197086647934e-14 FALSE 5.68713e-05 ENSE00000661950_032 ENSE00000661950 032 20 36995353 36995522 + 60 60 50 G A 36995471 1205 119 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACAGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366826 38366827 38366827 exon -2 0.983333333333333 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACAGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 443 249 0.997938154907622 1 0.998969077453811 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0298751039100735 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.0958449024444782 NA FALSE NA 0.237 -0.191 NA NA NA LBP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:38366827 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 missense_variant 0.138623 0.18072 0.01677 0.554377 0.174597350668607 0 5.69197086647934e-14 FALSE 0.000199074 ENSE00000661950_035 ENSE00000661950 035 20 36995353 36995522 + 60 60 50 T C 36995474 1208 122 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGCAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366829 38366830 38366830 downstr_intron 2 1.04081632653061 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGCAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 428 140 0.00800172195598768 0.00229339653043392 0.0051475592432108 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA -0.960061329041561 -0.835891902490683 0.986443520913492 0.903124175009333 NA -0.897976615766122 NA TRUE NA 1 3.824 . splice_donor_variant HIGH LBP HGNC 6517 ENST00000217407 9/14 1 NA HC GTA T 1.647e-05 20:38366830 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 splice_donor_variant 3.5844 0.97976 0.88719 0.053691 0.982934509946588 0.936107 5.69197086647934e-14 FALSE 4.06256e-06 ENSE00000661950_037 ENSE00000661950 037 20 36995353 36995522 + 60 60 50 T C 36995486 1210 134 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTCAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366841 38366842 38366842 downstr_intron 14 1.28571428571429 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTCAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 85 543 0.994549482226037 0.999083642770023 0.99681656249803 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0264864312284884 0.160898343748906 0.986443520913492 0.903124175009333 NA 0.093692387488697 NA FALSE NA 0 -0.854 . intron_variant MODIFIER LBP HGNC 6517 ENST00000217407 9/14 1 NA TTA T 2.471e-05 20:38366842 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 intron_variant -0.216231 0.11474 0.00469 0.053691 0.281082456721637 0.046323 5.69197086647934e-14 FALSE 1.62517e-05 ENSE00000661950_039 ENSE00000661950 039 20 36995353 36995522 + 60 60 50 C T 36995492 1212 140 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCTCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 38366847 38366848 38366848 downstr_intron 20 1.40816326530612 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCTCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 53 242 0.992795241211123 1 0.996397620605562 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.0247321902135741 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.0932734455962285 NA FALSE NA 0 0.016 rs111586212 intron_variant MODIFIER LBP HGNC 6517 ENST00000217407 9/14 rs111586212 1 NA CCC C 2.471e-05 20:38366848 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 intron_variant 0.128462 0.14548 0.00076 0.053691 0.776099711862576 0.0600639 5.69197086647934e-14 FALSE 1.21918e-05 ENSE00000661950_041 ENSE00000661950 041 20 36995353 36995522 + 60 60 50 G A 36995508 1214 156 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCAAGCCTACTAGACTC 38366708 38366878 38366863 38366864 38366864 downstr_intron 36 1.73469387755102 CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCAAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC mutant NA NA NA NA NA 1167 338 1 1 1 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA 0.031936949002451 0.161814700978883 0.986443520913492 0.903124175009333 NA 0.096875824990667 NA FALSE NA 0 -1.264 . intron_variant MODIFIER LBP HGNC 6517 ENST00000217407 9/14 1 NA CGA G 1.647e-05 20:38366864 LBP HGNC Symbol protein_coding 30667 ENSG00000129988 ENSE00000661950 intron_variant -0.052113 0.12204 0.01334 0.053691 0.630611351566315 0.0448725 5.69197086647934e-14 FALSE 2.44397e-05 ENSE00000661950_BRK ENSE00000661950 BRK 20 36995353 36995522 + 60 60 50 A,G; T,T NA NA NA CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCTTATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGCCAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC 38366708 38366878 NA NA NA NA NA NA CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCTTATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGCCAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC CTTTAGACCTTCAGCTCCAGCGGGAGCACCCTAAAACTTCTTCATGTCTCTTTGCTGCAGATACCGCCTGACTCTAATATCCGACTGACCACCAAGTCCTTCCGACCCTTCGTCCCACGGGTAAGGAGTCCCTTAGTTCCCCATGAGTGCAGACCGAGCCTACTAGACTC control NA NA NA NA NA 587 958 0 0.0360343113931585 0.0180171556965793 0.992650995563306 0.980236046263678 0.968063050997549 0.838185299021117 NA NA -0.968063050997549 -0.802150987627959 0.986443520913492 0.903124175009333 NA -0.885107019312754 NA TRUE NA NA NA NA NA NA LBP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LBP NA NA NA ENSG00000129988 ENSE00000661950 NA NA NA NA NA NA NA 5.69197086647934e-14 FALSE NA ENSE00000662205_000 ENSE00000662205 000 20 42311390 42311559 + 44 93 33 NA NA NA NA NA CCACTGTGTGCAAGGCACTGTCCCAGCAGTTACTTTTTGGTCTTCCTCTTTGGTCCATGGCCCCTTGACAAGGTCTGGATTCAAAACTCTCAGCCACCTGTACTGGCATTGCTGGTCAGTGCGGTTCTGGGAAAAGAACAGAAGAACAAACCAATCTGTGAGAACTTCTG 43682749 43682919 NA NA NA NA NA NA CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG natural 38 43 0.997160018162023 1 0.998580009081012 2545 2661 0.88177237846591 0.983256612712638 0.932514495589274 0.997160018162023 1 0.88177237846591 0.983256612712638 0 0 0 0 0.998580009081012 0.932514495589274 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYBL2 NA NA NA ENSG00000101057 ENSE00000662205 NA NA NA NA NA NA NA 0.992108233056559 TRUE NA ENSE00000662205_005 ENSE00000662205 005 20 42311390 42311559 + 44 93 33 G A 42311448 1351 59 CCACTGTGTGCAAGGCACTGTCCCAGCAGTTACTTTTTGGTCTTCCTCTTTGGTCCATGGCCCCTTGACAAGGTCTGGATTCAAAACTCTCAGCCACCTGTACTGGCATTGTTGGTCAGTGCGGTTCTGGGAAAAGAACAGAAGAACAAACCAATCTGTGAGAACTTCTG 43682749 43682919 43682807 43682808 43682808 exon 15 0.161290322580645 CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAACAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG mutant NA NA NA NA NA 639 482 0.993148876316017 0.982979727804995 0.988064302060506 0.997160018162023 1 0.88177237846591 0.983256612712638 NA NA 0.111376497850108 -0.000276884907642216 0.998580009081012 0.932514495589274 NA 0.0555498064712328 NA FALSE NA 1 0.802 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:43682808 MYBL2 HGNC Symbol protein_coding 49477 ENSG00000101057 ENSE00000662205 synonymous_variant 0.946904 0.93726 0.771 0.706548 0.624652602427886 0 0.992108233056559 TRUE 8.12143e-06 ENSE00000662205_006 ENSE00000662205 006 20 42311390 42311559 + 44 93 33 G T 42311448 1352 59 CCACTGTGTGCAAGGCACTGTCCCAGCAGTTACTTTTTGGTCTTCCTCTTTGGTCCATGGCCCCTTGACAAGGTCTGGATTCAAAACTCTCAGCCACCTGTACTGGCATTGATGGTCAGTGCGGTTCTGGGAAAAGAACAGAAGAACAAACCAATCTGTGAGAACTTCTG 43682749 43682919 43682807 43682808 43682808 exon 15 0.161290322580645 CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCATCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG mutant NA NA NA NA NA 2395 546 0.969647057406563 0.983423583305684 0.976535320356123 0.997160018162023 1 0.88177237846591 0.983256612712638 NA NA 0.0878746789406535 0.000166970593046267 0.998580009081012 0.932514495589274 NA 0.0440208247668499 NA FALSE NA 1 0.802 NA NA NA MYBL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYBL2 NA NA NA ENSG00000101057 ENSE00000662205 missense_variant 2.362772 0.92972 0.70148 0.706548 0.995630665235507 0 0.992108233056559 TRUE 2.03036e-05 ENSE00000662205_007 ENSE00000662205 007 20 42311390 42311559 + 44 93 33 A G 42311451 1353 62 CCACTGTGTGCAAGGCACTGTCCCAGCAGTTACTTTTTGGTCTTCCTCTTTGGTCCATGGCCCCTTGACAAGGTCTGGATTCAAAACTCTCAGCCACCTGTACTGGCACTGCTGGTCAGTGCGGTTCTGGGAAAAGAACAGAAGAACAAACCAATCTGTGAGAACTTCTG 43682749 43682919 43682810 43682811 43682811 exon 18 0.193548387096774 CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAGTGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG mutant NA NA NA NA NA 98 421 0.8 0.855991668246661 0.827995834123331 0.997160018162023 1 0.88177237846591 0.983256612712638 NA NA -0.0817723784659095 -0.127264944465976 0.998580009081012 0.932514495589274 NA -0.104518661465943 NA FALSE NA 1 1.49 . synonymous_variant LOW MYBL2 HGNC 7548 ENST00000217026 4/14 rs376639284 1 NA G:0.0002 G:0 AAT A,G 8.236e-06 20:43682811 MYBL2 HGNC Symbol protein_coding 49477 ENSG00000101057 ENSE00000662205 synonymous_variant 0.707741 0.91399 0.32739 0.706548 0.586612889141893 0 0.992108233056559 TRUE 2.03032e-05 ENSE00000662205_009 ENSE00000662205 009 20 42311390 42311559 + 44 93 33 A G 42311472 1355 83 CCACTGTGTGCAAGGCACTGTCCCAGCAGTTACTTTTTGGTCTTCCTCTTTGGTCCATGGCCCCTTGACAAGGTCTGGATTCAAAACCCTCAGCCACCTGTACTGGCATTGCTGGTCAGTGCGGTTCTGGGAAAAGAACAGAAGAACAAACCAATCTGTGAGAACTTCTG 43682749 43682919 43682831 43682832 43682832 exon 39 0.419354838709677 CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGGGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG mutant NA NA NA NA NA 482 125 1 1 1 0.997160018162023 1 0.88177237846591 0.983256612712638 NA NA 0.11822762153409 0.0167433872873624 0.998580009081012 0.932514495589274 NA 0.0674855044107264 NA FALSE NA 1 0.385 . synonymous_variant LOW MYBL2 HGNC 7548 ENST00000217026 4/14 rs531036198 1 NA GAG A,G 8.236e-06 20:43682832 MYBL2 HGNC Symbol protein_coding 49477 ENSG00000101057 ENSE00000662205 synonymous_variant 0.080138 0.89939 0.28582 0.706548 0.681874084731195 0 0.992108233056559 TRUE 1.21818e-05 ENSE00000662205_010 ENSE00000662205 010 20 42311390 42311559 + 44 93 33 C G 42311493 1356 104 CCACTGTGTGCAAGGCACTGTCCCAGCAGTTACTTTTTGGTCTTCCTCTTTGGTCCATGGCCCCTTCACAAGGTCTGGATTCAAAACTCTCAGCCACCTGTACTGGCATTGCTGGTCAGTGCGGTTCTGGGAAAAGAACAGAAGAACAAACCAATCTGTGAGAACTTCTG 43682749 43682919 43682852 43682853 43682853 exon -34 0.645161290322581 CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTGAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG mutant NA NA NA NA NA 472 28 1 1 1 0.997160018162023 1 0.88177237846591 0.983256612712638 NA NA 0.11822762153409 0.0167433872873624 0.998580009081012 0.932514495589274 NA 0.0674855044107264 NA FALSE NA 0.985 -0.027 . synonymous_variant LOW MYBL2 HGNC 7548 ENST00000217026 4/14 rs369875337 1 NA G:0 G:0.0001 TCA C,G 8.236e-06 20:43682853 MYBL2 HGNC Symbol protein_coding 49477 ENSG00000101057 ENSE00000662205 synonymous_variant 0.965857 0.88695 0.60882 0.706548 0.638276259991219 0 0.992108233056559 TRUE 8.12123e-06 ENSE00000662205_BRK ENSE00000662205 BRK 20 42311390 42311559 + 44 93 33 A,G; T,T NA NA NA CCACTGTGTGCAAGGCACTGTCCCAGCAGTTGGTTTTTGGTCTTCCTCTTTGGTCCATGGCCCCTTGACAAGGTCTGGATTCAAAACTCTCAGCCACCTGTACTGGCATTGCTGGTCAGTGCGGTTAAGGGAAAAGAACAGAAGAACAAACCAATCTGTGAGAACTTCTG 43682749 43682919 NA NA NA NA NA NA CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCTTAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAACCAACTGCTGGGACAGTGCCTTGCACACAGTGG CAGAAGTTCTCACAGATTGGTTTGTTCTTCTGTTCTTTTCCCAGAACCGCACTGACCAGCAATGCCAGTACAGGTGGCTGAGAGTTTTGAATCCAGACCTTGTCAAGGGGCCATGGACCAAAGAGGAAGACCAAAAAGTAACTGCTGGGACAGTGCCTTGCACACAGTGG control 36 98 0 0 0 1266 146 0.031747782802292 0 0.015873891401146 0.997160018162023 1 0.88177237846591 0.983256612712638 -0.997160018162023 -1 -0.850024595663617 -0.983256612712638 0.998580009081012 0.932514495589274 -0.998580009081012 -0.916640604188128 0.081939404892884 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00000662205 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00000662795_000 ENSE00000662795 000 20 49184876 49185045 + 41 99 30 NA NA NA NA NA ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 NA NA NA NA NA NA ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT natural 16 16 0.997346000368666 0.999663720058798 0.998504860213732 1216 2856 0.996276382488142 0.983409934147019 0.98984315831758 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 0 0 0 0 0.998504860213732 0.98984315831758 0 0 0 FALSE FALSE NA NA NA NA NA RP4-530I15.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN1 NA NA NA ENSG00000196396 ENSE00000662795 NA NA NA NA NA NA NA 0.69764496881077 FALSE NA ENSE00000662795_001 ENSE00000662795 001 20 49184876 49185045 + 41 99 30 G T 49184894 1631 19 ATGTTTCAGATGTCACATTTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568356 50568357 50568357 upstr_intron -23 -0.536585365853659 ATGTTTCAGATGTCACATTTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 607 637 0.996701625851721 0.997265394782328 0.996983510317024 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.000425243363578298 0.0138554606353097 0.998504860213732 0.98984315831758 NA 0.00714035199944402 NA FALSE NA 0 -2.342 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 rs371544725 1 NA T:0.0005 T:0 TGT G,T 5.765e-05 20:50568357 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 intron_variant 0.832303 0.24049 0.04637 0.256867 0.828724893679822 0.062265 0.69764496881077 FALSE NA ENSE00000662795_002 ENSE00000662795 002 20 49184876 49185045 + 41 99 30 T G 49184898 1632 23 ATGTTTCAGATGTCACATGTTGGGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568360 50568361 50568361 upstr_intron -19 -0.439024390243902 ATGTTTCAGATGTCACATGTTGGGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 254 36 0.99604538970515 0.995581217394881 0.995813303550015 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA -0.000230992782992656 0.012171283247862 0.998504860213732 0.98984315831758 NA 0.00597014523243466 NA FALSE NA 0.022 2.316 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 rs376240987 1 NA G:0 G:0.0001 GTG T,G 8.236e-06 20:50568361 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 intron_variant 1.383792 0.32201 0.43167 0.256867 0.762370179960158 0.062265 0.69764496881077 FALSE 4.06098e-06 ENSE00000662795_003 ENSE00000662795 003 20 49184876 49185045 + 41 99 30 G A 49184899 1633 24 ATGTTTCAGATGTCACATGTTGTATTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568361 50568362 50568362 upstr_intron -18 -0.414634146341463 ATGTTTCAGATGTCACATGTTGTATTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 183 158 0.966470937342273 0.998786502735442 0.982628720038857 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA -0.0298054451458692 0.015376568588423 0.998504860213732 0.98984315831758 NA -0.00721443827872315 NA FALSE NA 0.001 -0.024 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 1 NA TGT G,A 8.236e-06 20:50568362 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 intron_variant 1.321378 0.26837 0.08561 0.256867 0.766453341342418 0.062265 0.69764496881077 FALSE 4.06081e-06 ENSE00000662795_004 ENSE00000662795 004 20 49184876 49185045 + 41 99 30 T A 49184903 1634 28 ATGTTTCAGATGTCACATGTTGTGTTAATGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568365 50568366 50568366 upstr_intron -14 -0.317073170731707 ATGTTTCAGATGTCACATGTTGTGTTAATGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 810 186 0.993692238443948 0.999148765093638 0.996420501768793 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA -0.00258414404419416 0.0157388309466192 0.998504860213732 0.98984315831758 NA 0.00657734345121253 NA FALSE NA 0.007 -0.254 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 rs199511900 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 ATT T,A 3.295e-05 20:50568366 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 intron_variant 0.5229 0.27105 0.0987 0.256867 0.772450636077202 0.112436 0.69764496881077 FALSE 3.24857e-05 ENSE00000662795_005 ENSE00000662795 005 20 49184876 49185045 + 41 99 30 T G 49184904 1635 29 ATGTTTCAGATGTCACATGTTGTGTTATGGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568366 50568367 50568367 upstr_intron -13 -0.292682926829268 ATGTTTCAGATGTCACATGTTGTGTTATGGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 156 14 0.980789394844959 1 0.99039469742248 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA -0.0154869876431832 0.0165900658529813 0.998504860213732 0.98984315831758 NA 0.000551539104899024 NA FALSE NA 0.243 2.323 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 1 NA TTG T,G 8.236e-06 20:50568367 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 intron_variant 1.089291 0.52059 0.90123 0.256867 0.820468585398273 0.662866 0.69764496881077 FALSE 4.06068e-06 ENSE00000662795_007 ENSE00000662795 007 20 49184876 49185045 + 41 99 30 C T 49184914 1637 39 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGTAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568376 50568377 50568377 upstr_intron -3 -0.0487804878048781 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGTAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 3326 22 1 1 1 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0165900658529813 0.998504860213732 0.98984315831758 NA 0.0101568416824195 NA FALSE NA 1 3.202 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 1 NA GCA C,T 2.471e-05 20:50568377 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 splice_region_variant 1.833876 0.95987 0.94087 0.256867 0.919151680098603 0.858161 0.69764496881077 FALSE 1.62429e-05 ENSE00000662795_008 ENSE00000662795 008 20 49184876 49185045 + 41 99 30 C T 49184919 1638 44 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGTCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568381 50568382 50568382 exon 3 0.0303030303030303 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGTCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 33 35 1 1 1 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0165900658529813 0.998504860213732 0.98984315831758 NA 0.0101568416824195 NA FALSE NA 0.824 -0.846 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 1 NA GCC C,T 8.236e-06 20:50568382 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 splice_region_variant 1.860585 0.90597 0.32752 0.732398 0.867979647357184 0 0.69764496881077 FALSE 4.06065e-06 ENSE00000662795_009 ENSE00000662795 009 20 49184876 49185045 + 41 99 30 A C 49184934 1639 59 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACCTGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568396 50568397 50568397 exon 18 0.181818181818182 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACCTGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 102 131 1 1 1 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0165900658529813 0.998504860213732 0.98984315831758 NA 0.0101568416824195 NA FALSE NA 0 -4.526 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 1 NA CAT A,C 1.647e-05 20:50568397 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 synonymous_variant -0.483272 0.29803 0.09149 0.732398 0.638402286789535 0 0.69764496881077 FALSE 2.03029e-05 ENSE00000662795_010 ENSE00000662795 010 20 49184876 49185045 + 41 99 30 T C 49184935 1640 60 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACACGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568397 50568398 50568398 exon 19 0.191919191919192 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACACGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 22 96 1 0.996283302273762 0.998141651136881 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0128733681267429 0.998504860213732 0.98984315831758 NA 0.00829849281930034 NA FALSE NA 1 7.916 rs189361363 downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 rs189361363 1 C:0.0004 C:0 C:0.0014 NA C:0 C:0 C:0.001 ATG T,C 1.647e-05 20:50568398 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 missense_variant 5.903559 0.97593 0.99064 0.732398 0.997439890609806 0 0.69764496881077 FALSE 4.06058e-06 ENSE00000662795_011 ENSE00000662795 011 20 49184876 49185045 + 41 99 30 C T 49184937 1641 62 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGTGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568399 50568400 50568400 exon 21 0.212121212121212 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGTGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 164 1056 1 0.997659655749109 0.998829827874554 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0142497216020899 0.998504860213732 0.98984315831758 NA 0.00898666955697386 NA FALSE NA 0.03 -1.823 rs143550876 downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 rs143550876&COSM4099325 1 NA T:0.0005 T:0.0001 GCG C,T 4.118e-05 20:50568400 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 synonymous_variant 1.776717 0.73574 0.10316 0.732398 0.829025221355037 0 0.69764496881077 FALSE 3.65458e-05 ENSE00000662795_012 ENSE00000662795 012 20 49184876 49185045 + 41 99 30 G T 49184938 1642 63 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCTGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568400 50568401 50568401 exon 22 0.222222222222222 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCTGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 2038 23 0.992173888047635 0.993060714384897 0.992617301216266 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA -0.00410249444050681 0.00965078023787869 0.998504860213732 0.98984315831758 NA 0.00277414289868594 NA FALSE NA 1 6.619 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:50568401 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 missense_variant 5.574645 0.9821 0.98038 0.732398 0.995235091337152 0 0.69764496881077 FALSE 4.06062e-06 ENSE00000662795_013 ENSE00000662795 013 20 49184876 49185045 + 41 99 30 G A 49184938 1643 63 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCAGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568400 50568401 50568401 exon 22 0.222222222222222 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCAGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 75 149 1 1 1 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0165900658529813 0.998504860213732 0.98984315831758 NA 0.0101568416824195 NA FALSE NA 1 6.619 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN1 NA NA NA ENSG00000196396 ENSE00000662795 missense_variant 5.478578 0.98145 0.98667 0.732398 0.998515539561082 0 0.69764496881077 FALSE 4.06062e-06 ENSE00000662795_014 ENSE00000662795 014 20 49184876 49185045 + 41 99 30 C T 49184982 1644 107 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTTGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568444 50568445 50568445 exon -34 0.666666666666667 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTTGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 110 334 1 1 1 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0165900658529813 0.998504860213732 0.98984315831758 NA 0.0101568416824195 NA FALSE NA 0.001 -2.131 NA NA NA RP4-530I15.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:50568445 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 synonymous_variant 2.361163 0.13869 0.02971 0.732398 0.858797526663888 0 0.69764496881077 FALSE 5.27872e-05 ENSE00000662795_016 ENSE00000662795 016 20 49184876 49185045 + 41 99 30 G A 49184983 1646 108 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCATCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568445 50568446 50568446 exon -33 0.676767676767677 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCATCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 331 186 1 1 1 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0165900658529813 0.998504860213732 0.98984315831758 NA 0.0101568416824195 NA FALSE NA 1 3.069 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 1 NA CGT G,A 8.236e-06 20:50568446 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 missense_variant 3.738084 0.98948 0.96251 0.732398 0.997923441506027 0 0.69764496881077 FALSE 1.62422e-05 ENSE00000662795_018 ENSE00000662795 018 20 49184876 49185045 + 41 99 30 A G 49185008 1648 133 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAGAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 50568470 50568471 50568471 exon -8 0.929292929292929 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAGAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 57 118 1 1 1 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00372361751185779 0.0165900658529813 0.998504860213732 0.98984315831758 NA 0.0101568416824195 NA FALSE NA 1 9.343 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 1 NA AAA A,G 8.236e-06 20:50568471 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 missense_variant 4.629057 0.99441 0.99697 0.732398 0.999096689436339 0 0.69764496881077 FALSE 4.06065e-06 ENSE00000662795_022 ENSE00000662795 022 20 49184876 49185045 + 41 99 30 G A 49185025 1652 150 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCAGCTTCATTTGCTGTGTATGT 50568338 50568508 50568487 50568488 50568488 downstr_intron 10 1.3448275862069 ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCAGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT mutant NA NA NA NA NA 406 983 0.999186261501453 0.997961066615165 0.998573664058309 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA 0.00290987901331041 0.0145511324681463 0.998504860213732 0.98984315831758 NA 0.00873050574072837 NA FALSE NA 0 -1.11 . downstream_gene_variant MODIFIER RP4-530I15.9 Clone_based_vega_gene NA ENST00000431019 1 NA CGG G,A 8.236e-06 20:50568488 PTPN1 HGNC Symbol protein_coding 74920 ENSG00000196396 ENSE00000662795 intron_variant 0.214987 0.20313 0.07029 0.088506 0.773984352885248 0.0526402 0.69764496881077 FALSE 4.06091e-06 ENSE00000662795_BRK ENSE00000662795 BRK 20 49184876 49185045 + 41 99 30 A,G; T,T NA NA NA ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCTTGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGCCAAGTCTCGGCTTCATTTGCTGTGTATGT 50568338 50568508 NA NA NA NA NA NA ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCTTGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGCCAAGTCTCGGCTTCATTTGCTGTGTATGT ATGTTTCAGATGTCACATGTTGTGTTATTGTGTCTTTGCAGGGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGGGAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCGGTAAGTCTCGGCTTCATTTGCTGTGTATGT control NA NA NA NA NA 20 25 0 0 0 0.997346000368666 0.999663720058798 0.996276382488142 0.983409934147019 NA NA -0.996276382488142 -0.983409934147019 0.998504860213732 0.98984315831758 NA -0.98984315831758 NA TRUE NA NA NA NA NA NA RP4-530I15.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN1 NA NA NA ENSG00000196396 ENSE00000662795 NA NA NA NA NA NA NA 0.69764496881077 FALSE NA ENSE00000662817_000 ENSE00000662817 000 20 49518521 49518690 - 33 93 44 NA NA NA NA NA TTTATACCACTATGTTTTTGTAAACTTATTTCACTGTTTTCTAGGATTTTAAACAATTTGAACCTAATGACTTTTATTTGAAAAACACTACATGGGAGGATGTAGGACTGTGGGACCCATCACTTACGAAAAACCAGGTAAGTGGCACAGGAGACTTCCTCAGATGGCAG 50901983 50902153 NA NA NA NA NA NA TTTATACCACTATGTTTTTGTAAACTTATTTCACTGTTTTCTAGGATTTTAAACAATTTGAACCTAATGACTTTTATTTGAAAAACACTACATGGGAGGATGTAGGACTGTGGGACCCATCACTTACGAAAAACCAGGTAAGTGGCACAGGAGACTTCCTCAGATGGCAG TTTATACCACTATGTTTTTGTAAACTTATTTCACTGTTTTCTAGGATTTTAAACAATTTGAACCTAATGACTTTTATTTGAAAAACACTACATGGGAGGATGTAGGACTGTGGGACCCATCACTTACGAAAAACCAGGTAAGTGGCACAGGAGACTTCCTCAGATGGCAG natural NA NA NA NA NA 1313 160 0.995574021011573 1 0.997787010505786 NA NA 0.995574021011573 1 NA NA 0 0 NA 0.997787010505786 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00000662817 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00000662887_000 ENSE00000662887 000 20 55025605 55025774 + 50 81 39 NA NA NA NA NA TGTTCATAACACCGCACCTTAGCACCTCTTCATACTTACACTTGCTTGGCTGTCTGGGGGATGGAGTCCTGCCTTCTTGGGGCTGGCTGGTATGTCATATAACTGCTGCTTCTCTGGCTCCTGGGGAAAGACCACAAAGGCAGACAACTTGAATGTTTCTTTCCTAATGG 56450548 56450718 NA NA NA NA NA NA CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGGACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGGACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA natural 36 26 0.979075759414048 0.997370460407133 0.98822310991059 547 1331 0.875332417135905 0.999376697570972 0.937354557353439 0.979075759414048 0.997370460407133 0.875332417135905 0.999376697570972 0 0 0 0 0.98822310991059 0.937354557353439 0 0 0 FALSE FALSE NA NA NA NA NA CASS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CASS4 NA NA NA ENSG00000087589 ENSE00003484835 NA NA NA NA NA NA NA 0.296175209094422 FALSE NA ENSE00000662887_007 ENSE00000662887 007 20 55025605 55025774 + 50 81 39 C A 55025693 1788 89 TGTTCATAACACCGCACCTTAGCACCTCTTCATACTTACACTTGCTTGGCTGTCTGGGGGATGGAGTCCTGCCTTCTTGGGTCTGGCTGGTATGTCATATAACTGCTGCTTCTCTGGCTCCTGGGGAAAGACCACAAAGGCAGACAACTTGAATGTTTCTTTCCTAATGG 56450548 56450718 56450636 56450637 56450637 exon 39 0.481481481481481 CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGACCCAAGAAGGCAGGACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGGACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA mutant NA NA NA NA NA 40 60 1 1 1 0.979075759414048 0.997370460407133 0.875332417135905 0.999376697570972 NA NA 0.124667582864095 0.000623302429027861 0.98822310991059 0.937354557353439 NA 0.0626454426465615 NA FALSE NA 0.085 0.324 . missense_variant MODERATE CASS4 HGNC 15878 ENST00000371336 4/6 1 deleterious(0.03) benign(0.062) NA GCC C,A 8.236e-06 20:56450637 CASS4 HGNC Symbol protein_coding 48275 ENSG00000087589 ENSE00003484835 missense_variant 2.72758 0.7015 0.31172 0.554377 0.995919773065221 0 0.296175209094422 FALSE NA ENSE00000662887_008 ENSE00000662887 008 20 55025605 55025774 + 50 81 39 G A 55025707 1789 103 TGTTCATAACACCGCACCTTAGCACCTCTTCATACTTACACTTGCTTGGCTGTCTGGGGGATGGAGTTCTGCCTTCTTGGGGCTGGCTGGTATGTCATATAACTGCTGCTTCTCTGGCTCCTGGGGAAAGACCACAAAGGCAGACAACTTGAATGTTTCTTTCCTAATGG 56450548 56450718 56450650 56450651 56450651 exon -29 0.654320987654321 CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGAACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGGACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA mutant NA NA NA NA NA 117 229 1 0.994434370570079 0.99721718528504 0.979075759414048 0.997370460407133 0.875332417135905 0.999376697570972 NA NA 0.124667582864095 -0.00494232700089303 0.98822310991059 0.937354557353439 NA 0.0598626279316011 NA FALSE NA 0 -1.04 . missense_variant MODERATE CASS4 HGNC 15878 ENST00000371336 4/6 1 tolerated(0.18) benign(0.015) NA GGA G,A 8.236e-06 20:56450651 CASS4 HGNC Symbol protein_coding 48275 ENSG00000087589 ENSE00003484835 missense_variant -0.828189 0.18665 0.03026 0.554377 0.481500466827297 0 0.296175209094422 FALSE 4.06164e-06 ENSE00000662887_013 ENSE00000662887 013 20 55025605 55025774 + 50 81 39 C G 55025723 1794 119 TGTTCATAACACCGCACCTTAGCACCTCTTCATACTTACACTTGCTTGGCTCTCTGGGGGATGGAGTCCTGCCTTCTTGGGGCTGGCTGGTATGTCATATAACTGCTGCTTCTCTGGCTCCTGGGGAAAGACCACAAAGGCAGACAACTTGAATGTTTCTTTCCTAATGG 56450548 56450718 56450666 56450667 56450667 exon -13 0.851851851851852 CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGGACTCCATCCCCCAGAGAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGGACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA mutant NA NA NA NA NA 841 102 1 0.998446307094354 0.999223153547177 0.979075759414048 0.997370460407133 0.875332417135905 0.999376697570972 NA NA 0.124667582864095 -0.000930390476618359 0.98822310991059 0.937354557353439 NA 0.0618685961937384 NA FALSE NA 0 0.102 . missense_variant MODERATE CASS4 HGNC 15878 ENST00000371336 4/6 COSM359711 1 tolerated(0.66) benign(0) NA ACA C,G 8.236e-06 20:56450667 CASS4 HGNC Symbol protein_coding 48275 ENSG00000087589 ENSE00003484835 missense_variant -1.331061 0.19214 0.11358 0.554377 0.156058853928711 0 0.296175209094422 FALSE NA ENSE00000662887_018 ENSE00000662887 018 20 55025605 55025774 + 50 81 39 G A 55025762 1799 158 TGTTCATAACACTGCACCTTAGCACCTCTTCATACTTACACTTGCTTGGCTGTCTGGGGGATGGAGTCCTGCCTTCTTGGGGCTGGCTGGTATGTCATATAACTGCTGCTTCTCTGGCTCCTGGGGAAAGACCACAAAGGCAGACAACTTGAATGTTTCTTTCCTAATGG 56450548 56450718 56450705 56450706 56450706 downstr_intron 27 1.71052631578947 CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGGACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCAGTGTTATGAACA CCATTAGGAAAGAAACATTCAAGTTGTCTGCCTTTGTGGTCTTTCCCCAGGAGCCAGAGAAGCAGCAGTTATATGACATACCAGCCAGCCCCAAGAAGGCAGGACTCCATCCCCCAGACAGCCAAGCAAGTGTAAGTATGAAGAGGTGCTAAGGTGCGGTGTTATGAACA mutant NA NA NA NA NA 83 218 1 1 1 0.979075759414048 0.997370460407133 0.875332417135905 0.999376697570972 NA NA 0.124667582864095 0.000623302429027861 0.98822310991059 0.937354557353439 NA 0.0626454426465615 NA FALSE NA 0 -0.983 rs6069753 intron_variant MODIFIER CASS4 HGNC 15878 ENST00000371336 4/5 rs6069753 1 A:0.4645 A:0.8056 A:0.4121 NA A:0.5069 A:0.2555 A:0.2117 A:0.7274 A:0.2614 CGG A,A 0.326 20:56450706 CASS4 HGNC Symbol protein_coding 48275 ENSG00000087589 ENSE00003484835 intron_variant -0.189139 0.07206 0.00181 0.053691 0.54185035088953 0.0476178 0.296175209094422 FALSE 0.323093 ENSE00000664260_000 ENSE00000664260 000 16 675381 675550 + 51 78 41 NA NA NA NA NA GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 NA NA NA NA NA NA GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT natural 63 52 0.984773487004203 0.986141018206248 0.985457252605226 582 425 0.995009323738621 0.89718082657853 0.946095075158575 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 0 0 0 0 0.985457252605226 0.946095075158575 0 0 0 FALSE FALSE NA NA NA NA NA RAB40C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB40C NA NA NA ENSG00000197562 ENSE00003614788 NA NA NA NA NA NA NA 0.113249055305225 FALSE NA ENSE00000664260_003 ENSE00000664260 003 16 675381 675550 + 51 78 41 A G 675397 23 17 GCTGGCCATGCGTGTCGGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625396 625397 625397 upstr_intron -35 -0.666666666666667 GCTGGCCATGCGTGTCGGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 202 16 1 1 1 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0539049248414245 NA FALSE NA 0 -1.772 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 4/5 rs199762675 1 G:0.0012 G:0.0045 G:0 NA G:0 G:0 G:0 G:0.0007 G:0 CAG A,G 0.0001153 16:625397 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant -0.070764 0.08942 0.00074 0.090766 0.483102268550754 0.0616597 0.113249055305225 FALSE 8.56521e-05 ENSE00000664260_004 ENSE00000664260 004 16 675381 675550 + 51 78 41 C T 675403 24 23 GCTGGCCATGCGTGTCAGTGACTCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625402 625403 625403 upstr_intron -29 -0.549019607843137 GCTGGCCATGCGTGTCAGTGACTCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 207 126 0.997994780507662 1 0.998997390253831 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00298545676904061 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0529023150952554 NA FALSE NA 0.001 -0.953 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 4/5 1 NA CCC C,T 8.238e-06 16:625403 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.251468 0.18689 0.05184 0.078448 0.518143349141303 0.0791707 0.113249055305225 FALSE 8.15328e-06 ENSE00000664260_005 ENSE00000664260 005 16 675381 675550 + 51 78 41 A C 675408 25 28 GCTGGCCATGCGTGTCAGTGACCCCTGCTGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625407 625408 625408 upstr_intron -24 -0.450980392156863 GCTGGCCATGCGTGTCAGTGACCCCTGCTGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 474 14 1 1 1 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0539049248414245 NA FALSE NA 0 -0.803 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 4/5 1 NA GAT G,C 8.238e-06 16:625408 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant -0.049385 0.20175 0.02307 0.078448 0.497281367951997 0.0791707 0.113249055305225 FALSE 4.07256e-06 ENSE00000664260_006 ENSE00000664260 006 16 675381 675550 + 51 78 41 T G 675409 26 29 GCTGGCCATGCGTGTCAGTGACCCCTGAGGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625408 625409 625409 upstr_intron -23 -0.431372549019608 GCTGGCCATGCGTGTCAGTGACCCCTGAGGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant 102 62 0 0 0 NA NA NA NA NA 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 -0.984773487004203 -0.986141018206248 NA NA 0.985457252605226 0.946095075158575 -0.985457252605226 NA NA NA TRUE 0 0.258 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 4/5 1 NA ATG T,G 1.648e-05 16:625409 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.129893 0.2289 0.10593 0.078448 0.32589758459029 0.0791707 0.113249055305225 FALSE 1.22171e-05 ENSE00000664260_009 ENSE00000664260 009 16 675381 675550 + 51 78 41 G C 675428 29 48 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTCCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625427 625428 625428 upstr_intron -4 -0.0588235294117647 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTCCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 50 283 0.995810548949701 0.990930424586882 0.993370486768291 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.000801225211079282 0.0937495980083526 0.985457252605226 0.946095075158575 NA 0.0472754116097159 NA FALSE NA 0 -1.615 . splice_region_variant&intron_variant&NMD_transcript_variant LOW RAB40C HGNC 18285 ENST00000565511 4/5 rs370023212 1 NA C:0 C:0.0001 TGC G,C 8.238e-06 16:625428 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 splice_region_variant -0.189925 0.28591 0.07414 0.162113 0.690556813826323 0.343587 0.113249055305225 FALSE NA ENSE00000664260_011 ENSE00000664260 011 16 675381 675550 + 51 78 41 G A 675463 31 83 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCACTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625462 625463 625463 exon 32 0.41025641025641 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCACTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 278 452 0.995160769861425 0.999831429579644 0.997496099720535 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.000151446122804044 0.102650603001114 0.985457252605226 0.946095075158575 NA 0.0514010245619591 NA FALSE NA 1 9.695 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/6 COSM314654 1 NA CGC G,A 8.238e-06 16:625463 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 missense_variant 5.96334 0.99442 0.98906 0.695654 0.99956804664803 0 0.113249055305225 FALSE 4.06607e-06 ENSE00000664260_014 ENSE00000664260 014 16 675381 675550 + 51 78 41 C G 675494 34 114 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATGAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625493 625494 625494 exon -16 0.807692307692308 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATGAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 272 513 0.963732519552446 1 0.981866259776223 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA -0.0312768041861748 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0357711846176477 NA FALSE NA 1 1.585 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/6 1 NA TCA C,G 8.238e-06 16:625494 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 missense_variant 4.210867 0.97941 0.86379 0.706298 0.992492483445425 0 0.113249055305225 FALSE 1.22027e-05 ENSE00000664260_015 ENSE00000664260 015 16 675381 675550 + 51 78 41 C T 675503 35 123 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATTGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625502 625503 625503 exon -7 0.923076923076923 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATTGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 189 22 1 1 1 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0539049248414245 NA FALSE NA 0 -4.784 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/6 rs374602717 1 NA A:0 A:0.0001 TCG C,T 8.238e-06 16:625503 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 synonymous_variant 1.391112 0.14158 0.01449 0.706298 0.884875694255044 0 0.113249055305225 FALSE 8.1418e-06 ENSE00000664260_017 ENSE00000664260 017 16 675381 675550 + 51 78 41 T C 675511 37 131 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGCAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625510 625511 625511 downstr_intron 2 1.05 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGCAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant 42 12 0 0 0 NA NA NA NA NA 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 -0.984773487004203 -0.986141018206248 NA NA 0.985457252605226 0.946095075158575 -0.985457252605226 NA NA NA TRUE 1 7.886 . splice_donor_variant&NMD_transcript_variant HIGH RAB40C HGNC 18285 ENST00000565511 5/5 1 NA GTA T,C 8.238e-06 16:625511 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 splice_donor_variant 3.719265 0.9923 0.97852 0.090766 0.991277439697867 0.96892 0.113249055305225 FALSE 4.07398e-06 ENSE00000664260_018 ENSE00000664260 018 16 675381 675550 + 51 78 41 G A 675520 38 140 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGATCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625519 625520 625520 downstr_intron 11 1.275 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGATCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant 501 563 0.841197583285877 0.855641040052231 0.848419311669054 NA NA NA NA NA 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 -0.143575903718326 -0.130499978154017 NA NA 0.985457252605226 0.946095075158575 -0.137037940936172 NA NA NA FALSE 0 -0.614 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/5 1 NA GGT G,A 8.239e-06 16:625520 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.213463 0.18168 0.01164 0.090766 0.608883663320009 0.122152 0.113249055305225 FALSE NA ENSE00000664260_019 ENSE00000664260 019 16 675381 675550 + 51 78 41 C T 675523 39 143 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCTGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625522 625523 625523 downstr_intron 14 1.35 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCTGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 153 75 1 1 1 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0539049248414245 NA FALSE NA 0 -0.913 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/5 1 NA CCG C,T 1.648e-05 16:625523 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.010785 0.15939 0.00083 0.090766 0.701350808578711 0.0726754 0.113249055305225 FALSE 2.45108e-05 ENSE00000664260_020 ENSE00000664260 020 16 675381 675550 + 51 78 41 G A 675524 40 144 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCAGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625523 625524 625524 downstr_intron 15 1.375 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCAGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 14 58 1 0.994571968726606 0.997285984363303 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.0973911421480761 0.985457252605226 0.946095075158575 NA 0.0511909092047274 NA FALSE NA 0 -0.044 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/5 rs567184263 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 9.064e-05 16:625524 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.393397 0.23643 0.00535 0.090766 0.548846541376489 0.0726754 0.113249055305225 FALSE 4.49692e-05 ENSE00000664260_021 ENSE00000664260 021 16 675381 675550 + 51 78 41 G C 675525 41 145 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGCGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 625524 625525 625525 downstr_intron 16 1.4 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGCGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 71 315 0.996469471203343 0.998905195377067 0.997687333290205 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00146014746472134 0.101724368798537 0.985457252605226 0.946095075158575 NA 0.0515922581316294 NA FALSE NA 0 -3.364 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/5 1 NA GGG G,C 8.24e-06 16:625525 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant -0.252954 0.16419 0.01333 0.090766 0.457422707294762 0.0562073 0.113249055305225 FALSE 4.08624e-06 ENSE00000664260_024 ENSE00000664260 024 16 675381 675550 + 51 78 41 G A 675529 44 149 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAACCCTCCCGGGGAAGGCAGGCT 625380 625550 625528 625529 625529 downstr_intron 20 1.5 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAACCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 864 60 0.933521114570018 1 0.966760557285009 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA -0.0614882091686036 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0206654821264333 NA FALSE NA 0 -0.216 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/5 rs371073143 1 NA A:0 A:0.0001 AGC G,A 8.241e-06 16:625529 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant -0.003141 0.25551 0.0204 0.078448 0.83720831554743 0.0726754 0.113249055305225 FALSE 8.18672e-06 ENSE00000664260_025 ENSE00000664260 025 16 675381 675550 + 51 78 41 C T 675530 45 150 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGTCCTCCCGGGGAAGGCAGGCT 625380 625550 625529 625530 625530 downstr_intron 21 1.525 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGTCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 41 1139 1 0.996409765721607 0.998204882860803 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.0992289391430771 0.985457252605226 0.946095075158575 NA 0.0521098077022279 NA FALSE NA 0 -1.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:625530 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.213264 0.2514 0.01836 0.078448 0.818170653688208 0.0726754 0.113249055305225 FALSE 8.18786e-06 ENSE00000664260_026 ENSE00000664260 026 16 675381 675550 + 51 78 41 C G 675530 46 150 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGGCCTCCCGGGGAAGGCAGGCT 625380 625550 625529 625530 625530 downstr_intron 21 1.525 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGGCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 99 1602 0.95712292862256 0.999802505739685 0.978462717181123 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA -0.0378863951160611 0.102621679161155 0.985457252605226 0.946095075158575 NA 0.032367642022547 NA FALSE NA 0 -1.059 NA NA NA RAB40C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB40C NA NA NA ENSG00000197562 ENSE00003614788 intron_variant 0.053606 0.25226 0.00344 0.078448 0.442653499602191 0.0726754 0.113249055305225 FALSE NA ENSE00000664260_027 ENSE00000664260 027 16 675381 675550 + 51 78 41 C G 675532 47 152 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCGTCCCGGGGAAGGCAGGCT 625380 625550 625531 625532 625532 downstr_intron 23 1.575 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCGTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 13 186 1 1 1 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0539049248414245 NA FALSE NA 0.001 1.213 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/5 1 NA CCT C,G 8.241e-06 16:625532 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.028391 0.2128 0.06074 0.078448 0.419358247323523 0.0726754 0.113249055305225 FALSE NA ENSE00000664260_028 ENSE00000664260 028 16 675381 675550 + 51 78 41 C T 675536 48 156 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCTGGGGAAGGCAGGCT 625380 625550 625535 625536 625536 downstr_intron 27 1.675 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCTGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 295 71 1 1 1 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0539049248414245 NA FALSE NA 0 -1.633 . intron_variant&NMD_transcript_variant MODIFIER RAB40C HGNC 18285 ENST00000565511 5/5 rs201370882 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 5.769e-05 16:625536 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.137124 0.15616 0.001 0.078448 0.776529000306384 0.0726754 0.113249055305225 FALSE 4.51471e-05 ENSE00000664260_030 ENSE00000664260 030 16 675381 675550 + 51 78 41 G T 675537 50 157 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCTGGGAAGGCAGGCT 625380 625550 625536 625537 625537 downstr_intron 28 1.7 GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCTGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT mutant NA NA NA NA NA 13 69 1 1 1 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 NA NA 0.00499067626137872 0.10281917342147 0.985457252605226 0.946095075158575 NA 0.0539049248414245 NA FALSE NA 0.005 1.199 NA NA NA RAB40C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:625537 RAB40C HGNC Symbol protein_coding 39915 ENSG00000197562 ENSE00003614788 intron_variant 0.227452 0.18358 0.05697 0.078448 0.568161474358978 0.0726754 0.113249055305225 FALSE 8.22558e-06 ENSE00000664260_BRK ENSE00000664260 BRK 16 675381 675550 + 51 78 41 A,G; T,T NA NA NA GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCTTGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGCCAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT 625380 625550 NA NA NA NA NA NA GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCTTGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGCCAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT GCTGGCCATGCGTGTCAGTGACCCCTGATGACCCCCAAGTCTCTGTTGCAGGGGATCCTCTTGGTGTATGACATCACCAACCGCTGGTCCTTTGACGGCATCGACCGCTGGATCAAGGAGATCGATGAGGTAGGCCTGGGTCCGGGGAGCCCTCCCGGGGAAGGCAGGCT control 143 311 0.0182944617266075 0 0.00914723086330374 NA NA NA NA NA 0.984773487004203 0.986141018206248 0.995009323738621 0.89718082657853 -0.966479025277596 -0.986141018206248 NA NA 0.985457252605226 0.946095075158575 -0.976310021741922 NA NA NA TRUE NA NA NA NA NA RAB40C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB40C NA NA NA ENSG00000197562 ENSE00003614788 NA NA NA NA NA NA NA 0.113249055305225 FALSE NA ENSE00000664344_000 ENSE00000664344 000 19 3664787 3664956 - 33 93 44 NA NA NA NA NA GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG 3664788 3664958 NA NA NA NA NA NA GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG natural 88 85 0.984842690945256 0.992015385488655 0.988429038216955 604 383 0.962940402722347 0.994644242287795 0.978792322505071 0.984842690945256 0.992015385488655 0.962940402722347 0.994644242287795 0 0 0 0 0.988429038216955 0.978792322505071 0 0 0 FALSE FALSE NA NA NA NA NA PIP5K1C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIP5K1C NA NA NA ENSG00000186111 ENSE00003594660 NA NA NA NA NA NA NA 0.859389818234551 FALSE NA ENSE00000664344_002 ENSE00000664344 002 19 3664787 3664956 - 33 93 44 C T 3664812 198 145 GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCAGCTCCCCTTAGCTGGCTGGAGGGAG 3664788 3664958 3664813 3664814 3664814 downstr_intron 8 1.25 GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCAGCTCCCCTTAGCTGGCTGGAGGGAG GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG mutant 10 10 1 1 1 NA NA NA NA NA 0.984842690945256 0.992015385488655 0.962940402722347 0.994644242287795 0.0151573090547444 0.00798461451134491 NA NA 0.988429038216955 0.978792322505071 0.0115709617830447 NA NA NA FALSE 0 -0.837 . splice_region_variant&intron_variant LOW PIP5K1C HGNC 8996 ENST00000589578 3/16 1 NA CCG C,T 2.471e-05 19:3664814 PIP5K1C HGNC Symbol protein_coding 70296 ENSG00000186111 ENSE00003594660 splice_region_variant 0.611056 0.0937 0.00359 0.139865 0.707765831660368 0.046875 0.859389818234551 FALSE 4.06759e-05 ENSE00000664344_004 ENSE00000664344 004 19 3664787 3664956 - 33 93 44 C T 3664823 200 134 GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAAAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG 3664788 3664958 3664824 3664825 3664825 exon -4 0.967741935483871 GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAAAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG mutant NA NA NA NA NA 1450 1547 0.992910430579233 0.999109439244704 0.996009934911968 0.984842690945256 0.992015385488655 0.962940402722347 0.994644242287795 NA NA 0.0299700278568859 0.0044651969569085 0.988429038216955 0.978792322505071 NA 0.0172176124068972 NA FALSE NA 1 0.772 . synonymous_variant LOW PIP5K1C HGNC 8996 ENST00000589578 3/17 1 NA TCT C,T 8.238e-06 19:3664825 PIP5K1C HGNC Symbol protein_coding 70296 ENSG00000186111 ENSE00003594660 synonymous_variant 1.867713 0.95412 0.61685 0.722319 0.640563622413618 0 0.859389818234551 FALSE 4.0662e-06 ENSE00000664344_012 ENSE00000664344 012 19 3664787 3664956 - 33 93 44 C T 3664875 208 82 GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGAGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG 3664788 3664958 3664876 3664877 3664877 exon 38 0.408602150537634 GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGAGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG mutant 11 10 1 1 1 18 30 1 1 1 0.984842690945256 0.992015385488655 0.962940402722347 0.994644242287795 0.0151573090547444 0.00798461451134491 0.0370595972776531 0.00535575771220487 0.988429038216955 0.978792322505071 0.0115709617830447 0.021207677494929 0.00963671571188429 FALSE FALSE 0.893 1.806 . missense_variant MODERATE PIP5K1C HGNC 8996 ENST00000589578 3/17 1 tolerated(0.53) benign(0.444) NA CCC C,T 8.238e-06 19:3664877 PIP5K1C HGNC Symbol protein_coding 70296 ENSG00000186111 ENSE00003594660 missense_variant 1.760572 0.9724 0.83233 0.722319 0.770312533868692 0 0.859389818234551 FALSE 4.06607e-06 ENSE00000664344_017 ENSE00000664344 017 19 3664787 3664956 - 33 93 44 G A 3664890 213 67 GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCTGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG 3664788 3664958 3664891 3664892 3664892 exon 23 0.247311827956989 GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCTGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG mutant 30 40 0.997336065831241 0.948900181618393 0.973118123724817 NA NA NA NA NA 0.984842690945256 0.992015385488655 0.962940402722347 0.994644242287795 0.0124933748859855 -0.0431152038702618 NA NA 0.988429038216955 0.978792322505071 -0.0153109144921382 NA NA NA FALSE 1 2.314 . missense_variant MODERATE PIP5K1C HGNC 8996 ENST00000589578 3/17 1 tolerated_low_confidence(0.05) benign(0.053) NA CGG G,A 2.471e-05 19:3664892 PIP5K1C HGNC Symbol protein_coding 70296 ENSG00000186111 ENSE00003594660 missense_variant 3.032563 0.53027 0.88498 0.722319 0.988865508972638 0 0.859389818234551 FALSE 2.44069e-05 ENSE00000664344_024 ENSE00000664344 024 19 3664787 3664956 - 33 93 44 C T 3664934 220 23 GCGTGCTCCTTAGGGAGTTAACACTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG 3664788 3664958 3664935 3664936 3664936 upstr_intron -22 -0.477272727272727 GCGTGCTCCTTAGGGAGTTAACACTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG mutant NA NA NA NA NA 2768 79 0.987369280289829 0.9979927648543 0.992681022572064 0.984842690945256 0.992015385488655 0.962940402722347 0.994644242287795 NA NA 0.0244288775674818 0.00334852256650475 0.988429038216955 0.978792322505071 NA 0.0138887000669933 NA FALSE NA 0 -2.877 . intron_variant MODIFIER PIP5K1C HGNC 8996 ENST00000589578 2/16 1 NA GCG C,T 8.24e-06 19:3664936 PIP5K1C HGNC Symbol protein_coding 70296 ENSG00000186111 ENSE00003594660 intron_variant 0.542712 0.15036 0.01123 0.099367 0.874248695549952 0.046875 0.859389818234551 FALSE 4.07249e-06 ENSE00000664344_025 ENSE00000664344 025 19 3664787 3664956 - 33 93 44 G A 3664935 221 22 GCGTGCTCCTTAGGGAGTTAATGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG 3664788 3664958 3664936 3664937 3664937 upstr_intron -23 -0.5 GCGTGCTCCTTAGGGAGTTAATGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG mutant NA NA NA NA NA 302 150 1 0.934397789657191 0.967198894828595 0.984842690945256 0.992015385488655 0.962940402722347 0.994644242287795 NA NA 0.0370595972776531 -0.0602464526306042 0.988429038216955 0.978792322505071 NA -0.0115934276764756 NA FALSE NA 0 0.033 . intron_variant MODIFIER PIP5K1C HGNC 8996 ENST00000589578 2/16 rs545140110 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 8.24e-06 19:3664937 PIP5K1C HGNC Symbol protein_coding 70296 ENSG00000186111 ENSE00003594660 intron_variant 0.169783 0.15425 0.01776 0.099367 0.855031752820998 0.046875 0.859389818234551 FALSE 8.14637e-06 ENSE00000664344_026 ENSE00000664344 026 19 3664787 3664956 - 33 93 44 C T 3664942 222 15 GCGTGCTCCTTAGGAAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG 3664788 3664958 3664943 3664944 3664944 upstr_intron -30 -0.659090909090909 GCGTGCTCCTTAGGAAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG GCGTGCTCCTTAGGGAGTTAACGCTTCCTGCTTCCTCTTCCCAGGTTCTGTCCATGACGGCACAGCCGGGCCCTGGCCATGGGAAGAAGTTGGGCCATCGAGGTGTGGACGCATCCGGCGAAACCACCTACAAGAAGGTTCCTCGGCTCCCCTTAGCTGGCTGGAGGGAG mutant NA NA NA NA NA 10 98 1 1 1 0.984842690945256 0.992015385488655 0.962940402722347 0.994644242287795 NA NA 0.0370595972776531 0.00535575771220487 0.988429038216955 0.978792322505071 NA 0.021207677494929 NA FALSE NA 0 0.055 . intron_variant MODIFIER PIP5K1C HGNC 8996 ENST00000589578 2/16 1 NA TCC C,T 8.241e-06 19:3664944 PIP5K1C HGNC Symbol protein_coding 70296 ENSG00000186111 ENSE00003594660 intron_variant 0.062367 0.14575 0.02512 0.099367 0.5593782157324 0.046875 0.859389818234551 FALSE 8.15155e-06 ENSE00000664939_000 ENSE00000664939 000 X 10104629 10104798 + 44 93 33 NA NA NA NA NA CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 NA NA NA NA NA NA CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG natural 105 67 0.998971531984494 0.995389321382132 0.997180426683313 3727 9027 0.987357124444454 0.994673143121191 0.991015133782822 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 0 0 0 0 0.997180426683313 0.991015133782822 0 0 0 FALSE FALSE NA NA NA NA NA WWC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WWC3 NA NA NA ENSG00000047644 ENSE00000664939 NA NA NA NA NA NA NA 0.999632960749509 TRUE NA ENSE00000664939_001 ENSE00000664939 001 X 10104629 10104798 + 44 93 33 A G 10104640 77 12 CATTGCTGAGAGATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136599 10136600 10136600 upstr_intron -33 -0.727272727272727 CATTGCTGAGAGATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 282 492 1 0.992510589782388 0.996255294891194 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0126428755555461 -0.00216255333880266 0.997180426683313 0.991015133782822 NA 0.00524016110837172 NA FALSE NA 0.001 0.316 . intron_variant MODIFIER WWC3 HGNC 29237 ENST00000380861 19/22 1 NA AAA A,G 1.647e-05 X:10136600 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 intron_variant 0.329233 0.20529 0.0376 0 0.650341059136016 0.0976231 0.999632960749509 TRUE 1.13083e-05 ENSE00000664939_003 ENSE00000664939 003 X 10104629 10104798 + 44 93 33 T C 10104661 79 33 CATTGCTGAGAAATTGTTTCTGAACATCATTCCTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136620 10136621 10136621 upstr_intron -12 -0.25 CATTGCTGAGAAATTGTTTCTGAACATCATTCCTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 524 805 0.978797775432611 0.999471375616152 0.989134575524382 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA -0.00855934901184285 0.00479823249496136 0.997180426683313 0.991015133782822 NA -0.00188055825844075 NA FALSE NA 1 3.445 NA NA NA WWC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:10136621 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 intron_variant 1.500457 0.3418 0.90701 0 0.806134500080272 0.247957 0.999632960749509 TRUE 5.62455e-06 ENSE00000664939_004 ENSE00000664939 004 X 10104629 10104798 + 44 93 33 G A 10104669 80 41 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTACAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136628 10136629 10136629 upstr_intron -4 -0.0681818181818182 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTACAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 148 58 1 1 1 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0126428755555461 0.00532685687880907 0.997180426683313 0.991015133782822 NA 0.00898486621717759 NA FALSE NA 0.025 0.28 . splice_region_variant&intron_variant LOW WWC3 HGNC 29237 ENST00000380861 19/22 1 NA TGC G,A 3.295e-05 X:10136629 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 splice_region_variant 0.244721 0.21598 0.1359 0 0.796138678421217 0.232768 0.999632960749509 TRUE 4.50476e-05 ENSE00000664939_005 ENSE00000664939 005 X 10104629 10104798 + 44 93 33 G C 10104702 81 74 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACCCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136661 10136662 10136662 exon 30 0.32258064516129 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACCCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 284 175 1 1 1 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0126428755555461 0.00532685687880907 0.997180426683313 0.991015133782822 NA 0.00898486621717759 NA FALSE NA 0 -2.511 . synonymous_variant LOW WWC3 HGNC 29237 ENST00000380861 20/23 1 NA CGC G,C 0.001005 X:10136662 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 synonymous_variant 0.677588 0.09862 0.03706 0 0.595259789757552 0 0.999632960749509 TRUE 0.000649616 ENSE00000664939_006 ENSE00000664939 006 X 10104629 10104798 + 44 93 33 G A 10104746 82 118 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACAAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136705 10136706 10136706 exon -20 0.795698924731183 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACAAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 311 60 1 1 1 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0126428755555461 0.00532685687880907 0.997180426683313 0.991015133782822 NA 0.00898486621717759 NA FALSE NA 1 7.796 . missense_variant MODERATE WWC3 HGNC 29237 ENST00000380861 20/23 1 deleterious(0.01) benign(0.366) NA CGA G,A 8.236e-06 X:10136706 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 missense_variant 5.994725 0.9907 0.98346 0 0.999511375315862 0 0.999632960749509 TRUE 5.60149e-06 ENSE00000664939_007 ENSE00000664939 007 X 10104629 10104798 + 44 93 33 C A 10104749 83 121 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAAACCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136708 10136709 10136709 exon -17 0.827956989247312 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAAACCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 712 79 1 0.986406371061155 0.993203185530577 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0126428755555461 -0.00826677206003623 0.997180426683313 0.991015133782822 NA 0.00218805174775494 NA FALSE NA 1 4.697 rs55730294 missense_variant MODERATE WWC3 HGNC 29237 ENST00000380861 20/23 rs55730294 1 deleterious(0) probably_damaging(0.995) A:0 A:0 NA A:0 A:0.005 A:0 A:0.0008 A:0.0073 ACC C,A 0.007405 X:10136709 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 missense_variant 6.511655 0.9871 0.96174 0 0.994160007105594 0 0.999632960749509 TRUE 0.00749555 ENSE00000664939_008 ENSE00000664939 008 X 10104629 10104798 + 44 93 33 C T 10104750 84 122 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACTCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136709 10136710 10136710 exon -16 0.838709677419355 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACTCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 213 1077 1 0.998164380901474 0.999082190450737 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0126428755555461 0.0034912377802826 0.997180426683313 0.991015133782822 NA 0.00806705666791435 NA FALSE NA 0.992 0.315 rs148879321 synonymous_variant LOW WWC3 HGNC 29237 ENST00000380861 20/23 rs148879321 1 NA T:0 T:0.0003 CCC C,T 1.647e-05 X:10136710 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 synonymous_variant 1.704816 0.96447 0.71756 0 0.789270259748209 0 0.999632960749509 TRUE 5.60199e-06 ENSE00000664939_009 ENSE00000664939 009 X 10104629 10104798 + 44 93 33 C T 10104754 85 126 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTTGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136713 10136714 10136714 exon -12 0.881720430107527 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTTGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 1284 442 1 0.99553306256968 0.99776653128484 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0126428755555461 0.00085991944848951 0.997180426683313 0.991015133782822 NA 0.00675139750201781 NA FALSE NA 1 3.784 rs56399961 missense_variant MODERATE WWC3 HGNC 29237 ENST00000380861 20/23 rs56399961 1 deleterious(0.02) benign(0.401) T:0 T:0.0014 NA T:0 T:0.007 T:0 T:0.0016 T:0.0037 TCG C,T 0.003138 X:10136714 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 missense_variant 6.440554 0.99043 0.96049 0 0.999410059352914 0 0.999632960749509 TRUE 0.00346804 ENSE00000664939_010 ENSE00000664939 010 X 10104629 10104798 + 44 93 33 A G 10104758 86 130 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTGTAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136717 10136718 10136718 exon -8 0.924731182795699 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTGTAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 341 1622 0.998542718094277 0.999953060590181 0.999247889342229 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0111855936498233 0.00527991746898959 0.997180426683313 0.991015133782822 NA 0.00823275555940645 NA FALSE NA 1 3.996 rs34605493 missense_variant MODERATE WWC3 HGNC 29237 ENST00000380861 20/23 rs34605493 1 deleterious(0.01) probably_damaging(0.919) G:0.003 G:0 NA G:0 G:0 G:0 G:0.0013 G:0 TAT A,G 0.0001812 X:10136718 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 missense_variant 5.478366 0.97774 0.93443 0 0.998232263071684 0 0.999632960749509 TRUE 0.000240983 ENSE00000664939_011 ENSE00000664939 011 X 10104629 10104798 + 44 93 33 A G 10104768 87 140 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTGTGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136727 10136728 10136728 downstr_intron 3 1.09375 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTGTGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 774 365 0.978064648882922 0.971973106084767 0.975018877483844 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA -0.00929247556153223 -0.0227000370364242 0.997180426683313 0.991015133782822 NA -0.0159962562989782 NA FALSE NA 0.936 0.572 . splice_region_variant&intron_variant LOW WWC3 HGNC 29237 ENST00000380861 20/22 1 NA TAT A,G 1.647e-05 X:10136728 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 splice_region_variant -0.046064 0.23974 0.22277 0 0.480560525437646 0.172548 0.999632960749509 TRUE 5.63587e-06 ENSE00000664939_012 ENSE00000664939 012 X 10104629 10104798 + 44 93 33 T A 10104771 88 143 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGAGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 10136730 10136731 10136731 downstr_intron 6 1.1875 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGAGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 85 1106 0.998192233200218 0.997198860843041 0.99769554702163 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0108351087557644 0.00252571772185051 0.997180426683313 0.991015133782822 NA 0.00668041323880747 NA FALSE NA 1 3.121 . splice_region_variant&intron_variant LOW WWC3 HGNC 29237 ENST00000380861 20/22 1 NA GTG T,A 7.413e-05 X:10136731 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 splice_region_variant 0.497241 0.42597 0.82155 0 0.654347580364342 0.106491 0.999632960749509 TRUE 4.51817e-05 ENSE00000664939_013 ENSE00000664939 013 X 10104629 10104798 + 44 93 33 T G 10104776 89 148 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCGGTAAACAAATATGGAATCTGTG 10136588 10136758 10136735 10136736 10136736 downstr_intron 11 1.34375 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCGGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 323 1043 1 0.998633674878944 0.999316837439472 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA 0.0126428755555461 0.00396053175775257 0.997180426683313 0.991015133782822 NA 0.00830170365664934 NA FALSE NA 0 -3.507 . intron_variant MODIFIER WWC3 HGNC 29237 ENST00000380861 20/22 1 NA CTG T,G 8.236e-06 X:10136736 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 intron_variant 0.032868 0.18896 0.01807 0 0.467998954509252 0.117353 0.999632960749509 TRUE 5.69586e-06 ENSE00000664939_014 ENSE00000664939 014 X 10104629 10104798 + 44 93 33 T C 10104788 90 160 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATACGGAATCTGTG 10136588 10136758 10136747 10136748 10136748 downstr_intron 23 1.71875 CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATACGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG mutant NA NA NA NA NA 1205 325 0.985000634568388 0.999882816491193 0.992441725529791 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 NA NA -0.00235648987606618 0.00520967337000255 0.997180426683313 0.991015133782822 NA 0.00142659174696819 NA FALSE NA 0 -1.091 . intron_variant MODIFIER WWC3 HGNC 29237 ENST00000380861 20/22 1 NA ATG T,C 2.471e-05 X:10136748 WWC3 HGNC Symbol protein_coding 128916 ENSG00000047644 ENSE00000664939 intron_variant 0.14565 0.21667 0.02677 0 0.535905206447421 0.117353 0.999632960749509 TRUE 3.41851e-05 ENSE00000664939_BRK ENSE00000664939 BRK X 10104629 10104798 + 44 93 33 A,G; T,T NA NA NA CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCTTCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGCCATGTGCCCTGTAAACAAATATGGAATCTGTG 10136588 10136758 NA NA NA NA NA NA CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCTTCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGCCATGTGCCCTGTAAACAAATATGGAATCTGTG CATTGCTGAGAAATTGTTTCTGAACATCATTCTTTTTTGTGCAGCTTTATCGTAGTGACAGCGACAGTTCAACGCTGCCCCGGAAGTCCCCCTTTGTCCGAAATACTTTGGAAAGACGAACCCTTCGCTATAAGCAGGTATGTGCCCTGTAAACAAATATGGAATCTGTG control 99 198 0.195619241459172 0 0.0978096207295862 985 2065 0 0.0113029846646589 0.00565149233232946 0.998971531984494 0.995389321382132 0.987357124444454 0.994673143121191 -0.803352290525322 -0.995389321382132 -0.987357124444454 -0.983370158456532 0.997180426683313 0.991015133782822 -0.899370805953727 -0.985363641450493 0.0859928354967661 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WWC3 NA NA NA ENSG00000047644 ENSE00000664939 NA NA NA NA NA NA NA 0.999632960749509 TRUE NA ENSE00000665751_000 ENSE00000665751 000 16 1364246 1364415 + 48 84 38 NA NA NA NA NA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 NA NA NA NA NA NA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA natural 101 64 0.994803705538292 0.995654886899183 0.995229296218738 1710 738 0.998178512716448 0.98068410744172 0.989431310079084 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 0 0 0 0 0.995229296218738 0.989431310079084 0 0 0 FALSE FALSE NA NA NA NA NA UBE2I NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE2I NA NA NA ENSG00000103275 ENSE00003608455 NA NA NA NA NA NA NA 0.943944487319045 TRUE NA ENSE00000665751_002 ENSE00000665751 002 16 1364246 1364415 + 48 84 38 C G 1364258 52 13 GATGCCGCCACGGTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314256 1314257 1314257 upstr_intron -36 -0.729166666666667 GATGCCGCCACGGTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant 21 26 0.996053910288464 0.99934346884596 0.997698689567212 732 69 0.961661925197395 0.997700976363053 0.979681450780224 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 0.00125020475017212 0.00368858194677668 -0.0365165875190522 0.0170168689213338 0.995229296218738 0.989431310079084 0.0024693933484744 -0.00974985929885919 0.0122192526473336 FALSE FALSE 0 0.027 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 1/4 rs568807785 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GCT C,G 8.237e-06 16:1314257 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.226451 0.18129 0.03595 0.283894 0.528635624160429 0.056658 0.943944487319045 TRUE 4.06461e-06 ENSE00000665751_003 ENSE00000665751 003 16 1364246 1364415 + 48 84 38 G C 1364260 53 15 GATGCCGCCACGCTCATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314258 1314259 1314259 upstr_intron -34 -0.6875 GATGCCGCCACGCTCATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 141 82 1 1 1 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00182148728355247 0.0193158925582804 0.995229296218738 0.989431310079084 NA 0.0105686899209164 NA FALSE NA 0 0.012 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 1/4 rs375457298 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 TGA G,C 0.0001565 16:1314259 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.135778 0.34119 0.09592 0.283894 0.716252383292563 0.056658 0.943944487319045 TRUE 0.000109751 ENSE00000665751_004 ENSE00000665751 004 16 1364246 1364415 + 48 84 38 A C 1364261 54 16 GATGCCGCCACGCTGCTATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314259 1314260 1314260 upstr_intron -33 -0.666666666666667 GATGCCGCCACGCTGCTATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant 13 61 0.85 0.85 0.85 494 380 0.97712520115227 0.980937621464589 0.97903141130843 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 -0.144803705538292 -0.145654886899183 -0.0210533115641778 0.000253514022869772 0.995229296218738 0.989431310079084 -0.145229296218738 -0.010399898770654 0.134829397448084 FALSE FALSE 0 2.054 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 1/4 rs375457058 1 NA C:0 C:0.0002 GAT A,C 1.647e-05 16:1314260 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.253106 0.301 0.1294 0.283894 0.540861976423089 0.056658 0.943944487319045 TRUE 1.21928e-05 ENSE00000665751_006 ENSE00000665751 006 16 1364246 1364415 + 48 84 38 T G 1364264 56 19 GATGCCGCCACGCTGATAGGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314262 1314263 1314263 upstr_intron -30 -0.604166666666667 GATGCCGCCACGCTGATAGGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 215 255 0.989275479575548 1 0.994637739787774 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA -0.00890303314089935 0.0193158925582804 0.995229296218738 0.989431310079084 NA 0.00520642970869051 NA FALSE NA 0 -0.86 NA NA NA UBE2I NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:1314263 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant -0.142521 0.16313 0.08152 0.283894 0.328593045062134 0.0566971 0.943944487319045 TRUE 4.06365e-06 ENSE00000665751_007 ENSE00000665751 007 16 1364246 1364415 + 48 84 38 T C 1364267 57 22 GATGCCGCCACGCTGATATGCCTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314265 1314266 1314266 upstr_intron -27 -0.541666666666667 GATGCCGCCACGCTGATATGCCTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 15 743 1 0.994634787991773 0.997317393995886 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00182148728355247 0.0139506805500532 0.995229296218738 0.989431310079084 NA 0.00788608391680284 NA FALSE NA 0 -0.151 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 1/4 1 NA CTT T,C 8.237e-06 16:1314266 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.277801 0.20695 0.1319 0.283894 0.501987905588724 0.0566971 0.943944487319045 TRUE 4.06355e-06 ENSE00000665751_008 ENSE00000665751 008 16 1364246 1364415 + 48 84 38 G A 1364274 58 29 GATGCCGCCACGCTGATATGCTTTTGTGATTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314272 1314273 1314273 upstr_intron -20 -0.395833333333333 GATGCCGCCACGCTGATATGCTTTTGTGATTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant 38 90 0.98225869688193 0.9543263188155 0.968292507848715 NA NA NA NA NA 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 -0.0125450086563615 -0.0413285680836832 NA NA 0.995229296218738 0.989431310079084 -0.0269367883700224 NA NA NA FALSE 0.002 -0.173 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 1/4 1 NA GGT G,A 8.237e-06 16:1314273 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.186975 0.219 0.07903 0.283894 0.713618819783138 0.17556 0.943944487319045 TRUE 1.6251e-05 ENSE00000665751_009 ENSE00000665751 009 16 1364246 1364415 + 48 84 38 T A 1364275 59 30 GATGCCGCCACGCTGATATGCTTTTGTGGATGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314273 1314274 1314274 upstr_intron -19 -0.375 GATGCCGCCACGCTGATATGCTTTTGTGGATGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 825 189 0.928927821056095 0.99579280686887 0.962360313962482 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA -0.069250691660353 0.0151086994271503 0.995229296218738 0.989431310079084 NA -0.0270709961166014 NA FALSE NA 0.006 1.157 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 1/4 rs577806339 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GTT T,A 8.237e-06 16:1314274 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.60025 0.26101 0.32792 0.283894 0.687202452699286 0.17556 0.943944487319045 TRUE 4.0626e-06 ENSE00000665751_010 ENSE00000665751 010 16 1364246 1364415 + 48 84 38 G A 1364277 60 32 GATGCCGCCACGCTGATATGCTTTTGTGGTTATTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314275 1314276 1314276 upstr_intron -17 -0.333333333333333 GATGCCGCCACGCTGATATGCTTTTGTGGTTATTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 60 383 1 0.998899438889782 0.999449719444891 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00182148728355247 0.018215331448062 0.995229296218738 0.989431310079084 NA 0.0100184093658072 NA FALSE NA 0 -1.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:1314276 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.367099 0.20928 0.0471 0.283894 0.593737789100329 0.17556 0.943944487319045 TRUE 4.06256e-06 ENSE00000665751_011 ENSE00000665751 011 16 1364246 1364415 + 48 84 38 G C 1364277 61 32 GATGCCGCCACGCTGATATGCTTTTGTGGTTCTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314275 1314276 1314276 upstr_intron -17 -0.333333333333333 GATGCCGCCACGCTGATATGCTTTTGTGGTTCTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 4092 678 0.835814484554219 0.996851788532284 0.916333136543252 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA -0.162364028162228 0.0161676810905647 0.995229296218738 0.989431310079084 NA -0.0730981735358318 NA FALSE NA 0 -1.059 NA NA NA UBE2I NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE2I NA NA NA ENSG00000103275 ENSE00003608455 intron_variant 0.013062 0.19371 0.04261 0.283894 0.431117643492761 0.17556 0.943944487319045 TRUE NA ENSE00000665751_012 ENSE00000665751 012 16 1364246 1364415 + 48 84 38 T C 1364281 62 36 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTCCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314279 1314280 1314280 upstr_intron -13 -0.25 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTCCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 398 162 0.999689385362457 0.983031255414584 0.991360320388521 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00151087264600924 0.00234714797286484 0.995229296218738 0.989431310079084 NA 0.00192901030943704 NA FALSE NA 0.011 0.198 rs4984806 intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 1/4 rs4984806 1 T:0.0495 C:0.9705 C:0.9308 NA C:1 C:0.8857 C:0.953 C:0.962 C:0.884 TTC T,C 0.919 16:1314280 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.014988 0.41595 0.4203 0.283894 0.189538574119988 0.17556 0.943944487319045 TRUE 0.917811 ENSE00000665751_013 ENSE00000665751 013 16 1364246 1364415 + 48 84 38 T C 1364284 63 39 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTCTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314282 1314283 1314283 upstr_intron -10 -0.1875 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTCTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 56 136 1 1 1 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00182148728355247 0.0193158925582804 0.995229296218738 0.989431310079084 NA 0.0105686899209164 NA FALSE NA 0.655 3.832 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 1/4 rs553884454 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTT T,C 8.237e-06 16:1314283 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 intron_variant 0.140063 0.50262 0.70476 0.283894 0.419617531558335 0.17556 0.943944487319045 TRUE NA ENSE00000665751_015 ENSE00000665751 015 16 1364246 1364415 + 48 84 38 C T 1364299 65 54 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTTGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314297 1314298 1314298 exon 6 0.0714285714285714 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTTGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant 20 13 0.994784284124077 1 0.997392142062038 519 614 1 0.847744569727492 0.923872284863746 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 -1.94214142150706e-05 0.00434511310081653 0.00182148728355247 -0.132939537714228 0.995229296218738 0.989431310079084 0.00216284584330073 -0.0655590252153376 0.0677218710586384 FALSE FALSE 1 2.572 . synonymous_variant&NMD_transcript_variant LOW UBE2I HGNC 12485 ENST00000566775 2/5 rs200365646 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 1.647e-05 16:1314298 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 synonymous_variant 1.097823 0.88182 0.35896 0.706548 0.799349560707075 0 0.943944487319045 TRUE 8.12387e-06 ENSE00000665751_016 ENSE00000665751 016 16 1364246 1364415 + 48 84 38 C T 1364323 66 78 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCTGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314321 1314322 1314322 exon 30 0.357142857142857 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCTGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 215 1095 0.995313588062006 0.998662777623705 0.996988182842856 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA -0.00286492465444121 0.0179786701819855 0.995229296218738 0.989431310079084 NA 0.00755687276377215 NA FALSE NA 0.106 -0.625 . synonymous_variant&NMD_transcript_variant LOW UBE2I HGNC 12485 ENST00000566775 2/5 rs376808493 1 NA T:0 T:0.0002 CCG C,T 4.118e-05 16:1314322 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 synonymous_variant 2.021945 0.88498 0.1809 0.706548 0.868357160353252 0 0.943944487319045 TRUE 3.65571e-05 ENSE00000665751_017 ENSE00000665751 017 16 1364246 1364415 + 48 84 38 T C 1364326 67 81 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGACGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314324 1314325 1314325 exon 33 0.392857142857143 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGACGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 116 84 1 1 1 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00182148728355247 0.0193158925582804 0.995229296218738 0.989431310079084 NA 0.0105686899209164 NA FALSE NA 1 0.747 rs191421503 synonymous_variant&NMD_transcript_variant LOW UBE2I HGNC 12485 ENST00000566775 2/5 rs191421503 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATG T,C 8.237e-06 16:1314325 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 synonymous_variant -0.196018 0.89594 0.71209 0.706548 0.662910541181513 0 0.943944487319045 TRUE 4.06194e-06 ENSE00000665751_018 ENSE00000665751 018 16 1364246 1364415 + 48 84 38 G A 1364332 68 87 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACAATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314330 1314331 1314331 exon 39 0.464285714285714 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACAATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 511 866 0.940394205461647 1 0.970197102730823 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA -0.0577843072548008 0.0193158925582804 0.995229296218738 0.989431310079084 NA -0.0192342073482602 NA FALSE NA 0 -2.776 rs151173741 synonymous_variant&NMD_transcript_variant LOW UBE2I HGNC 12485 ENST00000566775 2/5 rs151173741 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 CGA G,A 9.884e-05 16:1314331 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 synonymous_variant 1.294241 0.19512 0.07249 0.706548 0.883684631094357 0 0.943944487319045 TRUE 0.000117798 ENSE00000665751_019 ENSE00000665751 019 16 1364246 1364415 + 48 84 38 C T 1364356 69 111 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGTGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314354 1314355 1314355 exon -22 0.75 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGTGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 69 870 1 0.998937259767876 0.999468629883938 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00182148728355247 0.0182531523261562 0.995229296218738 0.989431310079084 NA 0.0100373198048543 NA FALSE NA 0.546 -0.256 . synonymous_variant&NMD_transcript_variant LOW UBE2I HGNC 12485 ENST00000566775 2/5 rs531623513&COSM1375938 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCG C,T 1.647e-05 16:1314355 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 synonymous_variant 1.088034 0.39298 0.10046 0.706548 0.845633978244695 0 0.943944487319045 TRUE 2.03184e-05 ENSE00000665751_020 ENSE00000665751 020 16 1364246 1364415 + 48 84 38 A G 1364365 70 120 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCGGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314363 1314364 1314364 exon -13 0.857142857142857 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCGGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 83 286 1 1 1 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00182148728355247 0.0193158925582804 0.995229296218738 0.989431310079084 NA 0.0105686899209164 NA FALSE NA 0.409 -0.559 rs4610 synonymous_variant&NMD_transcript_variant LOW UBE2I HGNC 12485 ENST00000566775 2/5 rs4610&COSM3754656 1 G:0.1390 G:0.1634 G:0.2262 NA G:0.0456 G:0.1382 G:0.1411 G:0.1571 G:0.1428 CAG A,G 0.149 16:1314364 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 synonymous_variant -0.21723 0.87967 0.33578 0.706548 0.594143054084457 0 0.943944487319045 TRUE 0.155925 ENSE00000665751_021 ENSE00000665751 021 16 1364246 1364415 + 48 84 38 A G 1364381 71 136 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAGGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314379 1314380 1314380 downstr_intron 4 1.10810810810811 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAGGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 114 29 0.804555134220106 0.95 0.877277567110053 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA -0.193623378496341 -0.0306841074417196 0.995229296218738 0.989431310079084 NA -0.112153742969031 NA FALSE NA 1 7.16 . splice_region_variant&intron_variant&NMD_transcript_variant LOW UBE2I HGNC 12485 ENST00000566775 2/4 1 NA AAG A,G 1.648e-05 16:1314380 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 splice_region_variant 1.007622 0.95513 0.97662 0.283894 0.855723601948971 0.923016 0.943944487319045 TRUE 3.25402e-05 ENSE00000665751_022 ENSE00000665751 022 16 1364246 1364415 + 48 84 38 G A 1364383 72 138 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGAGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314381 1314382 1314382 downstr_intron 6 1.16216216216216 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGAGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant 23 34 0.975572416152016 0.982743431126242 0.979157923639129 243 1826 1 0.999111915216569 0.999555957608285 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 -0.0192312893862758 -0.0129114557729419 0.00182148728355247 0.0184278077748498 0.995229296218738 0.989431310079084 -0.0160713725796089 0.0101246475292011 0.02619602010881 FALSE FALSE 0.04 -0.111 . splice_region_variant&intron_variant&NMD_transcript_variant LOW UBE2I HGNC 12485 ENST00000566775 2/4 rs565077672 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGG G,A 8.239e-06 16:1314382 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 splice_region_variant -0.052741 0.2182 0.07979 0.283894 0.935781090512034 0.279465 0.943944487319045 TRUE 4.06848e-06 ENSE00000665751_023 ENSE00000665751 023 16 1364246 1364415 + 48 84 38 C T 1364386 73 141 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGTGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314384 1314385 1314385 downstr_intron 9 1.24324324324324 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGTGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 555 543 0.99927730956968 0.999215425135335 0.999246367352507 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.001098796853232 0.0185313176936156 0.995229296218738 0.989431310079084 NA 0.0098150572734238 NA FALSE NA 0.003 1.24 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 2/4 1 NA GCG C,T 8.239e-06 16:1314385 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 non_coding_transcript_exon_variant 0.28266 0.23528 0.04949 0.160901 0.883613788843352 0.109799 0.943944487319045 TRUE 1.22082e-05 ENSE00000665751_024 ENSE00000665751 024 16 1364246 1364415 + 48 84 38 C T 1364392 74 147 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCTGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314390 1314391 1314391 downstr_intron 15 1.40540540540541 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCTGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 63 100 1 0.998463048960043 0.999231524480022 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA 0.00182148728355247 0.0177789415183236 0.995229296218738 0.989431310079084 NA 0.00980021440093803 NA FALSE NA 0 -0.096 rs142707844 intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 2/4 rs142707844 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0003 CCG C,T 0.000173 16:1314391 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 non_coding_transcript_exon_variant -0.512432 0.12783 0.01261 0.160901 0.731516209000675 0.0498387 0.943944487319045 TRUE 0.000122169 ENSE00000665751_026 ENSE00000665751 026 16 1364246 1364415 + 48 84 38 C T 1364395 76 150 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGTCTCCTGCCTGTCGGGGCTCA 1314244 1314414 1314393 1314394 1314394 downstr_intron 18 1.48648648648649 GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGTCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA mutant NA NA NA NA NA 248 382 0.87952521927632 0.740129835274409 0.809827527275365 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 NA NA -0.118653293440127 -0.24055427216731 0.995229296218738 0.989431310079084 NA -0.179603782803719 NA FALSE NA 0 0.66 . intron_variant&NMD_transcript_variant MODIFIER UBE2I HGNC 12485 ENST00000566775 2/4 rs373003216 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 GCC C,T 3.296e-05 16:1314394 UBE2I HGNC Symbol protein_coding 18138 ENSG00000103275 ENSE00003608455 non_coding_transcript_exon_variant 0.262133 0.2331 0.04198 0.160901 0.789440523922829 0.0498387 0.943944487319045 TRUE 2.44288e-05 ENSE00000665751_BRK ENSE00000665751 BRK 16 1364246 1364415 + 48 84 38 A,G; T,T NA NA NA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCTTGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGCCAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA 1314244 1314414 NA NA NA NA NA NA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCTTGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGCCAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA GATGCCGCCACGCTGATATGCTTTTGTGGTTGTTTTCTTTTCTCTCAGGGTTTCGTGGCTGTCCCAACAAAAAATCCCGATGGCACGATGAACCTCATGAACTGGGAGTGCGCCATTCCAGGAAAGAAAGGGGTAAGGGGCGCTGCCGGCCTCCTGCCTGTCGGGGCTCA control 357 206 0.0399369214355125 0.0254830507587322 0.0327099860971223 389 2193 0.000771915540254486 0.000166676596181664 0.000469296068218075 0.994803705538292 0.995654886899183 0.998178512716448 0.98068410744172 -0.954866784102779 -0.970171836140451 -0.997406597176193 -0.980517430845538 0.995229296218738 0.989431310079084 -0.962519310121615 -0.988962014010865 0.0264427038892501 TRUE TRUE NA NA NA NA NA UBE2I NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE2I NA NA NA ENSG00000103275 ENSE00003608455 NA NA NA NA NA NA NA 0.943944487319045 TRUE NA ENSE00000666326_000 ENSE00000666326 000 X 18917238 18917407 - 53 54 63 NA NA NA NA NA TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC 18899119 18899289 NA NA NA NA NA NA TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC natural 27 17 0.999688900000609 1 0.999844450000304 485 144 0.97428137604406 0.988855311351168 0.981568343697614 0.999688900000609 1 0.97428137604406 0.988855311351168 0 0 0 0 0.999844450000304 0.981568343697614 0 0 0 FALSE FALSE NA NA NA NA NA PHKA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA2 NA NA NA ENSG00000044446 ENSE00003640169 NA NA NA NA NA NA NA 0.908082279776674 TRUE NA ENSE00000666326_005 ENSE00000666326 005 X 18917238 18917407 - 53 54 63 C T 18917262 172 146 TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCATCCCCGCTCCTCCTCGCGTCCTTC 18899119 18899289 18899143 18899144 18899144 downstr_intron 29 1.55769230769231 TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCATCCCCGCTCCTCCTCGCGTCCTTC TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC mutant NA NA NA NA NA 65 60 0.992145924142509 0.961203812634293 0.976674868388401 0.999688900000609 1 0.97428137604406 0.988855311351168 NA NA 0.0178645480984496 -0.0276514987168744 0.999844450000304 0.981568343697614 NA -0.00489347530921241 NA FALSE NA 0 -0.525 . intron_variant&non_coding_transcript_variant MODIFIER PHKA2 HGNC 8926 ENST00000473739 3/5 1 NA ACG C,T 0.0004859 X:18899144 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00003640169 intron_variant 0.240436 0.14761 0.01732 0 0.767457867686716 0.0525298 0.908082279776674 TRUE 0.000320005 ENSE00000666326_014 ENSE00000666326 014 X 18917238 18917407 - 53 54 63 C A 18917323 181 85 TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCTCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC 18899119 18899289 18899204 18899205 18899205 exon 22 0.407407407407407 TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCTCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC mutant NA NA NA NA NA 27 31 0.95 0.95 0.95 0.999688900000609 1 0.97428137604406 0.988855311351168 NA NA -0.0242813760440597 -0.0388553113511678 0.999844450000304 0.981568343697614 NA -0.0315683436976137 NA FALSE NA 0 -1.172 NA NA NA PHKA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:18899205 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00003640169 missense_variant -0.630964 0.15191 0.0349 0 0.694220143661714 0 0.908082279776674 TRUE 1.12204e-05 ENSE00000666326_018 ENSE00000666326 018 X 18917238 18917407 - 53 54 63 C T 18917332 185 76 TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGAGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC 18899119 18899289 18899213 18899214 18899214 exon 13 0.240740740740741 TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGAGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC mutant NA NA NA NA NA 52 91 0.140178874629379 0.0763168330034638 0.108247853816422 0.999688900000609 1 0.97428137604406 0.988855311351168 NA NA -0.83410250141468 -0.912538478347704 0.999844450000304 0.981568343697614 NA -0.873320489881192 NA TRUE NA 1 1.197 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKA2 HGNC 8926 ENST00000473739 3/6 1 NA CCC C,T 1.647e-05 X:18899214 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00003640169 missense_variant 1.743659 0.95795 0.49303 0 0.891655521386213 0 0.908082279776674 TRUE 5.61246e-06 ENSE00000666326_019 ENSE00000666326 019 X 18917238 18917407 - 53 54 63 C T 18917333 186 75 TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTAGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC 18899119 18899289 18899214 18899215 18899215 exon 12 0.222222222222222 TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTAGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC TCCTCTCTGCTGTGTCTCTTGGTGTCATTGCTGTCAACTGAGTGGATTCTTTTTGTTTTGTAGTTCTTTTCTGTGGGCCAGGCCGCGTCCAGCAGTGCGCATTCCTCCAAGTCTGCGGTAACAGTGCCTCGGGATTATTGTGTCCGTCCCCGCTCCTCCTCGCGTCCTTC mutant NA NA NA NA NA 50 16 1 1 1 0.999688900000609 1 0.97428137604406 0.988855311351168 NA NA 0.0257186239559404 0.0111446886488322 0.999844450000304 0.981568343697614 NA 0.0184316563023863 NA FALSE NA 1 1.467 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKA2 HGNC 8926 ENST00000473739 3/6 1 NA CCA C,T 0.0004695 X:18899215 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00003640169 synonymous_variant 0.987749 0.9762 0.82954 0 0.714351073063788 0 0.908082279776674 TRUE 0.000645502 ENSE00000666508_000 ENSE00000666508 000 16 3298877 3299046 - 32 96 42 NA NA NA NA NA ACGGATGGGCCATCAGCCACCTCTGACCTTACCAGAAAGCTCACTGCCTTCTCCTCCCCATAGGATCGCTGCTCCTCCCCTGATTTTCTCAGCTTCTTCAGATGCTCCAGCTGCTTCTGAATTTTCTTCTGGAAAAACAGCACTTGTTGAAAAGCTTGAATTTGGCTCCT 3248876 3249046 NA NA NA NA NA NA AGGAGCCAAATTCAAGCTTTTCAACAAGTGCTGTTTTTCCAGAAGAAAATTCAGAAGCAGCTGGAGCATCTGAAGAAGCTGAGAAAATCAGGGGAGGAGCAGCGATCCTATGGGGAGGAGAAGGCAGTGAGCTTTCTGGTAAGGTCAGAGGTGGCTGATGGCCCATCCGT AGGAGCCAAATTCAAGCTTTTCAACAAGTGCTGTTTTTCCAGAAGAAAATTCAGAAGCAGCTGGAGCATCTGAAGAAGCTGAGAAAATCAGGGGAGGAGCAGCGATCCTATGGGGAGGAGAAGGCAGTGAGCTTTCTGGTAAGGTCAGAGGTGGCTGATGGCCCATCCGT natural NA NA NA NA NA 663 67 0.606535153852308 0.770776400377241 0.688655777114775 NA NA 0.606535153852308 0.770776400377241 NA NA 0 0 NA 0.688655777114775 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MEFV NA NA NA ENSG00000103313 ENSE00000666508 NA NA NA NA NA NA NA 1.12014488205382e-08 FALSE NA ENSE00000666508_001 ENSE00000666508 001 16 3298877 3299046 - 32 96 42 C G 3298897 155 150 ACGGATGGGCCATCAGCCACGTCTGACCTTACCAGAAAGCTCACTGCCTTCTCCTCCCCATAGGATCGCTGCTCCTCCCCTGATTTTCTCAGCTTCTTCAGATGCTCCAGCTGCTTCTGAATTTTCTTCTGGAAAAACAGCACTTGTTGAAAAGCTTGAATTTGGCTCCT 3248876 3249046 3248896 3248897 3248897 downstr_intron 12 1.38709677419355 AGGAGCCAAATTCAAGCTTTTCAACAAGTGCTGTTTTTCCAGAAGAAAATTCAGAAGCAGCTGGAGCATCTGAAGAAGCTGAGAAAATCAGGGGAGGAGCAGCGATCCTATGGGGAGGAGAAGGCAGTGAGCTTTCTGGTAAGGTCAGACGTGGCTGATGGCCCATCCGT AGGAGCCAAATTCAAGCTTTTCAACAAGTGCTGTTTTTCCAGAAGAAAATTCAGAAGCAGCTGGAGCATCTGAAGAAGCTGAGAAAATCAGGGGAGGAGCAGCGATCCTATGGGGAGGAGAAGGCAGTGAGCTTTCTGGTAAGGTCAGAGGTGGCTGATGGCCCATCCGT mutant NA NA NA NA NA 15 210 0.8 0.990429837309806 0.895214918654903 NA NA 0.606535153852308 0.770776400377241 NA NA 0.193464846147692 0.219653436932565 NA 0.688655777114775 NA 0.206559141540128 NA FALSE NA 0 -1.281 NA NA NA MEFV NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:3248897 MEFV HGNC Symbol protein_coding 14599 ENSG00000103313 ENSE00000666508 intron_variant -0.527255 0.18766 0.01016 0.053691 0.282560148713737 0.0472522 1.12014488205382e-08 FALSE 2.03052e-05 ENSE00000666508_022 ENSE00000666508 022 16 3298877 3299046 - 32 96 42 C T 3299017 176 30 ACGGATGGGCCATCAGCCACCTCTGACCTTACCAGAAAGCTCACTGCCTTCTCCTCCCCATAGGATCGCTGCTCCTCCCCTGATTTTCTCAGCTTCTTCAGATGCTCCAGCTGCTTCTGAATTTTCTTCTGGAAAAACAGTACTTGTTGAAAAGCTTGAATTTGGCTCCT 3248876 3249046 3249016 3249017 3249017 upstr_intron -13 -0.285714285714286 AGGAGCCAAATTCAAGCTTTTCAACAAGTACTGTTTTTCCAGAAGAAAATTCAGAAGCAGCTGGAGCATCTGAAGAAGCTGAGAAAATCAGGGGAGGAGCAGCGATCCTATGGGGAGGAGAAGGCAGTGAGCTTTCTGGTAAGGTCAGAGGTGGCTGATGGCCCATCCGT AGGAGCCAAATTCAAGCTTTTCAACAAGTGCTGTTTTTCCAGAAGAAAATTCAGAAGCAGCTGGAGCATCTGAAGAAGCTGAGAAAATCAGGGGAGGAGCAGCGATCCTATGGGGAGGAGAAGGCAGTGAGCTTTCTGGTAAGGTCAGAGGTGGCTGATGGCCCATCCGT mutant NA NA NA NA NA 25 10 1 0.870296255711395 0.935148127855698 NA NA 0.606535153852308 0.770776400377241 NA NA 0.393464846147692 0.0995198553341542 NA 0.688655777114775 NA 0.246492350740923 NA FALSE NA 0 -0.069 . intron_variant&NMD_transcript_variant MODIFIER MEFV HGNC 6998 ENST00000538326 3/10 1 NA GCA C,T 8.236e-06 16:3249017 MEFV HGNC Symbol protein_coding 14599 ENSG00000103313 ENSE00000666508 intron_variant 0.651069 0.20438 0.02711 0.053691 0.557007512111179 0.167326 1.12014488205382e-08 FALSE 4.06451e-06 ENSE00000666750_000 ENSE00000666750 000 X 22244503 22244672 + 57 66 47 NA NA NA NA NA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA 22226385 22226555 NA NA NA NA NA NA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA natural NA NA NA NA NA 86 182 0.983467149235998 0.977578166817768 0.980522658026883 NA NA 0.983467149235998 0.977578166817768 NA NA 0 0 NA 0.980522658026883 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHEX NA NA NA ENSG00000102174 ENSE00000666750 NA NA NA NA NA NA NA 0.999645685351575 TRUE NA ENSE00000666750_004 ENSE00000666750 004 X 22244503 22244672 + 57 66 47 G T 22244522 274 20 ATAGTTGACCGTGAAACACTCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA 22226385 22226555 22226404 22226405 22226405 upstr_intron -38 -0.649122807017544 ATAGTTGACCGTGAAACACTCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA mutant NA NA NA NA NA 347 18 0.991500662050217 1 0.995750331025109 NA NA 0.983467149235998 0.977578166817768 NA NA 0.0080335128142196 0.022421833182232 NA 0.980522658026883 NA 0.0152276729982258 NA FALSE NA 0.002 0.363 NA NA NA PHEX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:22226405 PHEX HGNC Symbol protein_coding 218869 ENSG00000102174 ENSE00000666750 intron_variant -0.665726 0.08586 0.00035 0 0.390473885901966 0.0397658 0.999645685351575 TRUE NA ENSE00000666750_008 ENSE00000666750 008 X 22244503 22244672 + 57 66 47 G T 22244559 278 57 ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTATGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA 22226385 22226555 22226441 22226442 22226442 upstr_intron -1 0 ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTATGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA mutant NA NA NA NA NA 68 299 0 0 0 NA NA 0.983467149235998 0.977578166817768 NA NA -0.983467149235998 -0.977578166817768 NA 0.980522658026883 NA -0.980522658026883 NA TRUE NA 1 8.514 . splice_acceptor_variant HIGH PHEX HGNC 8918 ENST00000379374 18/21 COSM1557279 1 NA HC AGG G,T 8.236e-06 X:22226442 PHEX HGNC Symbol protein_coding 218869 ENSG00000102174 ENSE00000666750 splice_acceptor_variant 4.365686 0.9965 0.99394 0 0.994698906987031 0.964577 0.999645685351575 TRUE NA ENSE00000666750_012 ENSE00000666750 012 X 22244503 22244672 + 57 66 47 G A 22244610 282 108 ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTACGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA 22226385 22226555 22226492 22226493 22226493 exon -16 0.772727272727273 ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTACGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA mutant NA NA NA NA NA 67 188 0.860779174845668 0.957588394117822 0.909183784481745 NA NA 0.983467149235998 0.977578166817768 NA NA -0.12268797439033 -0.0199897726999456 NA 0.980522658026883 NA -0.0713388735451378 NA FALSE NA 0.999 0.541 . synonymous_variant LOW PHEX HGNC 8918 ENST00000379374 19/22 1 NA TGC G,A 8.236e-06 X:22226493 PHEX HGNC Symbol protein_coding 218869 ENSG00000102174 ENSE00000666750 synonymous_variant 0.521827 0.97528 0.80316 0 0.717798370967689 0 0.999645685351575 TRUE 5.59541e-06 ENSE00000666750_013 ENSE00000666750 013 X 22244503 22244672 + 57 66 47 G A 22244612 283 110 ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCAGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA 22226385 22226555 22226494 22226495 22226495 exon -14 0.803030303030303 ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCAGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA mutant NA NA NA NA NA 137 178 0.958181074216309 0.967888287919345 0.963034681067827 NA NA 0.983467149235998 0.977578166817768 NA NA -0.0252860750196886 -0.00968987889842343 NA 0.980522658026883 NA -0.017487976959056 NA FALSE NA 1 8.514 . missense_variant MODERATE PHEX HGNC 8918 ENST00000379374 19/22 CM971167 1 deleterious(0.01) probably_damaging(0.998) NA CGG G,A 8.236e-06 X:22226495 PHEX HGNC Symbol protein_coding 218869 ENSG00000102174 ENSE00000666750 missense_variant 7.637377 0.99463 0.98935 0 0.999480365941983 0 0.999645685351575 TRUE 3.91652e-05 ENSE00000666750_018 ENSE00000666750 018 X 22244503 22244672 + 57 66 47 C G 22244636 288 134 ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGGTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA 22226385 22226555 22226518 22226519 22226519 downstr_intron 11 1.23913043478261 ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGGTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA mutant NA NA NA NA NA 23 17 0.95 0.895743573070843 0.922871786535421 NA NA 0.983467149235998 0.977578166817768 NA NA -0.033467149235998 -0.0818345937469248 NA 0.980522658026883 NA -0.0576508714914614 NA FALSE NA 0.001 0.035 . intron_variant MODIFIER PHEX HGNC 8918 ENST00000379374 19/21 1 NA GCT C,G 1.647e-05 X:22226519 PHEX HGNC Symbol protein_coding 218869 ENSG00000102174 ENSE00000666750 intron_variant 0.773776 0.2632 0.13405 0 0.500848027978452 0.046875 0.999645685351575 TRUE 5.59566e-06 ENSE00000666750_BRK ENSE00000666750 BRK X 22244503 22244672 + 57 66 47 A,G; T,T NA NA NA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTTTGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGCCATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA 22226385 22226555 NA NA NA NA NA NA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTTTGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGCCATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA ATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAGCTTTTAGGGTATGCGCTGCTACATTTACCGTGGTTCTAAAAATCAAGCCATAAAA control NA NA NA NA NA 29 41 0.141035624411059 0 0.0705178122055297 NA NA 0.983467149235998 0.977578166817768 NA NA -0.842431524824939 -0.977578166817768 NA 0.980522658026883 NA -0.910004845821353 NA TRUE NA NA NA NA NA NA PHEX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHEX NA NA NA ENSG00000102174 ENSE00000666750 NA NA NA NA NA NA NA 0.999645685351575 TRUE NA ENSE00000667042_000 ENSE00000667042 000 16 4721336 4721505 + 56 69 45 NA NA NA NA NA GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 NA NA NA NA NA NA AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC natural 48 34 0.992310120278605 0.982830091222873 0.987570105750739 2532 1231 0.99687197406322 0.860521180854924 0.928696577459072 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 0 0 0 0 0.987570105750739 0.928696577459072 0 0 0 FALSE FALSE NA NA NA NA NA MGRN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGRN1 NA NA NA ENSG00000102858 ENSE00003469259 NA NA NA NA NA NA NA 0.450177891211047 FALSE NA ENSE00000667042_018 ENSE00000667042 018 16 4721336 4721505 + 56 69 45 G A 4721395 357 60 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTTCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671393 4671394 4671394 exon 4 0.0579710144927536 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGAACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 496 195 1 0.999188095061036 0.999594047530518 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA 0.00312802593677997 0.138666914206112 0.987570105750739 0.928696577459072 NA 0.0708974700714458 NA FALSE NA 1 9.85 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 2/4 rs372788282 1 NA A:0.0002 A:0 GGA G,A 3.302e-05 16:4671394 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 missense_variant 6.760207 0.99277 0.9928 0.706298 0.998861346586198 0 0.450177891211047 FALSE 2.03097e-05 ENSE00000667042_019 ENSE00000667042 019 16 4721336 4721505 + 56 69 45 A C 4721396 358 61 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGGCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671394 4671395 4671395 exon 5 0.072463768115942 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGCCCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 1138 1395 0.999730579097579 1 0.99986528954879 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA 0.0028586050343592 0.139478819145076 0.987570105750739 0.928696577459072 NA 0.0711687120897176 NA FALSE NA 1 9.322 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 2/4 1 NA GAC A,C 1.651e-05 16:4671395 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 missense_variant 6.178557 0.99056 0.99282 0.706298 0.990068156957185 0 0.450177891211047 FALSE 1.62471e-05 ENSE00000667042_021 ENSE00000667042 021 16 4721336 4721505 + 56 69 45 G A 4721399 360 64 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCTGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671397 4671398 4671398 exon 8 0.115942028985507 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCAGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 166 158 0.886249748855381 0.999758770437512 0.943004259646447 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA -0.110622225207839 0.139237589582588 0.987570105750739 0.928696577459072 NA 0.0143076821873745 NA FALSE NA 1 9.85 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 2/4 1 NA CGG G,A 8.255e-06 16:4671398 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 missense_variant 6.490912 0.99277 0.9928 0.706298 0.999054642700028 0 0.450177891211047 FALSE 8.12381e-06 ENSE00000667042_022 ENSE00000667042 022 16 4721336 4721505 + 56 69 45 G A 4721401 361 66 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGATCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671399 4671400 4671400 exon 10 0.144927536231884 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGATCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 67 104 0.995393595989515 1 0.997696797994758 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA -0.00147837807370454 0.139478819145076 0.987570105750739 0.928696577459072 NA 0.0690002205356857 NA FALSE NA 1 9.85 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 2/4 rs376381693 1 NA A:0.0002 A:0 GGT G,A 7.43e-05 16:4671400 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 missense_variant 5.578541 0.99277 0.9928 0.706298 0.996210078791835 0 0.450177891211047 FALSE 0.000113727 ENSE00000667042_025 ENSE00000667042 025 16 4721336 4721505 + 56 69 45 T C 4721407 364 72 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTGGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671405 4671406 4671406 exon 16 0.231884057971014 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCCACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 53 106 1 0.983344592262419 0.991672296131209 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA 0.00312802593677997 0.122823411407495 0.987570105750739 0.928696577459072 NA 0.0629757186721374 NA FALSE NA 1 8.025 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 2/4 1 NA CTA T,C 8.256e-06 16:4671406 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 missense_variant 6.345764 0.99009 0.98665 0.706298 0.998154233176371 0 0.450177891211047 FALSE 4.06164e-06 ENSE00000667042_026 ENSE00000667042 026 16 4721336 4721505 + 56 69 45 C T 4721410 365 75 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAAGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671408 4671409 4671409 exon 19 0.27536231884058 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACTTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 1121 383 0.960736304557247 0.999586845880846 0.980161575219046 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA -0.036135669505973 0.139065665025922 0.987570105750739 0.928696577459072 NA 0.0514649977599745 NA FALSE NA 1 2.222 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 2/4 1 NA CCT C,T 8.256e-06 16:4671409 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 missense_variant 6.213371 0.97216 0.87125 0.706298 0.998565849373619 0 0.450177891211047 FALSE 4.06161e-06 ENSE00000667042_027 ENSE00000667042 027 16 4721336 4721505 + 56 69 45 G T 4721415 366 80 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGAAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671413 4671414 4671414 exon 24 0.347826086956522 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTTCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 419 587 0.98541952926435 1 0.992709764632175 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA -0.0114524447988704 0.139478819145076 0.987570105750739 0.928696577459072 NA 0.0640131871731028 NA FALSE NA 0.935 -0.046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4671414 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 synonymous_variant 0.991786 0.96708 0.77724 0.706298 0.777877786460617 0 0.450177891211047 FALSE 8.12348e-06 ENSE00000667042_028 ENSE00000667042 028 16 4721336 4721505 + 56 69 45 G A 4721415 367 80 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGTAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671413 4671414 4671414 exon 24 0.347826086956522 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTACAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 334 122 0.901188070313201 0.997142183735828 0.949165127024514 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA -0.095683903750019 0.136621002880904 0.987570105750739 0.928696577459072 NA 0.0204685495654424 NA FALSE NA 0.935 -0.046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGRN1 NA NA NA ENSG00000102858 ENSE00003469259 synonymous_variant 1.310599 0.96645 0.80992 0.706298 0.803161610374646 0 0.450177891211047 FALSE 9.342e-05 ENSE00000667042_029 ENSE00000667042 029 16 4721336 4721505 + 56 69 45 G T 4721421 368 86 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATATCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671419 4671420 4671420 exon 30 0.434782608695652 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGATATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 120 63 1 1 1 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA 0.00312802593677997 0.139478819145076 0.987570105750739 0.928696577459072 NA 0.071303422540928 NA FALSE NA 1 4.251 NA NA NA MGRN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4671420 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 missense_variant 6.225221 0.97551 0.95994 0.706298 0.998952613893105 0 0.450177891211047 FALSE 4.06147e-06 ENSE00000667042_033 ENSE00000667042 033 16 4721336 4721505 + 56 69 45 G A 4721454 372 119 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTTTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671452 4671453 4671453 exon -7 0.91304347826087 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAAACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 339 574 0.995167181582217 0.99972437412729 0.997445777854753 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA -0.00170479248100297 0.139203193272366 0.987570105750739 0.928696577459072 NA 0.0687492003956813 NA FALSE NA 1 1.321 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 2/4 1 NA AGA G,A 8.259e-06 16:4671453 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 synonymous_variant 1.488611 0.95924 0.82888 0.706298 0.636159177726498 0 0.450177891211047 FALSE 4.06154e-06 ENSE00000667042_034 ENSE00000667042 034 16 4721336 4721505 + 56 69 45 A G 4721458 373 123 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTCGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671456 4671457 4671457 exon -3 0.971014492753623 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCGAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 80 138 1 1 1 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA 0.00312802593677997 0.139478819145076 0.987570105750739 0.928696577459072 NA 0.071303422540928 NA FALSE NA 1 9.322 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW MGRN1 HGNC 20254 ENST00000588015 2/4 rs567276557 1 G:0.0006 G:0 G:0 NA G:0 G:0 G:0.0031 CAA A,G 0.0001239 16:4671457 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 missense_variant 5.30259 0.99048 0.99223 0.706298 0.996696443628312 0 0.450177891211047 FALSE 8.93582e-05 ENSE00000667042_038 ENSE00000667042 038 16 4721336 4721505 + 56 69 45 G A 4721488 377 153 GTGGGCTTCTGTAATGGTAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671486 4671487 4671487 downstr_intron 28 1.63636363636364 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTACCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 15 13 1 1 1 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 NA NA 0.00312802593677997 0.139478819145076 0.987570105750739 0.928696577459072 NA 0.071303422540928 NA FALSE NA 0 -0.611 . intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 2/3 rs369543490 1 NA A:0 A:0.0002 TGC G,A 0.0001322 16:4671487 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 intron_variant 0.221815 0.14379 0.02429 0.115753 0.736262468770823 0.0481801 0.450177891211047 FALSE 9.75634e-05 ENSE00000667042_BRK ENSE00000667042 BRK 16 4721336 4721505 + 56 69 45 A,G; T,T NA NA NA GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACGGCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACAAGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 NA NA NA NA NA NA AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCTTGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGCCGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC control 24 41 0.85 0.85 0.85 135 65 0.960402199757244 0.945210710495699 0.952806455126471 0.992310120278605 0.982830091222873 0.99687197406322 0.860521180854924 -0.142310120278605 -0.132830091222873 -0.0364697743059764 0.0846895296407753 0.987570105750739 0.928696577459072 -0.137570105750739 0.0241098776673994 0.161679983418138 FALSE FALSE NA NA NA NA NA MGRN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGRN1 NA NA NA ENSG00000102858 ENSE00003469259 NA NA NA NA NA NA NA 0.450177891211047 FALSE NA ENSE00000667260_000 ENSE00000667260 000 16 4487355 4487524 + 48 84 38 NA NA NA NA NA TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 NA NA NA NA NA NA TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG natural NA NA NA NA NA 1021 373 0.799181706582454 0.995481501767643 0.897331604175049 NA NA 0.799181706582454 0.995481501767643 NA NA 0 0 NA 0.897331604175049 NA 0 NA FALSE NA NA NA NA NA NA DNAJA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAJA3 NA NA NA ENSG00000103423 ENSE00003659897 NA NA NA NA NA NA NA 0.3856771260961 FALSE NA ENSE00000667260_001 ENSE00000667260 001 16 4487355 4487524 + 48 84 38 C T 4487365 317 11 TTGGGGTTCATATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 4437363 4437364 4437364 upstr_intron -38 -0.770833333333333 TTGGGGTTCATATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 241 235 1 0.995332757520517 0.997666378760258 NA NA 0.799181706582454 0.995481501767643 NA NA 0.200818293417546 -0.000148744247126742 NA 0.897331604175049 NA 0.10033477458521 NA FALSE NA 0 -0.615 . intron_variant&NMD_transcript_variant MODIFIER DNAJA3 HGNC 11808 ENST00000575106 3/5 1 NA ACA C,T 8.237e-06 16:4437364 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 intron_variant -0.03607 0.06634 0.00173 0.295142 0.360800586024417 0.132895 0.3856771260961 FALSE 4.14642e-06 ENSE00000667260_003 ENSE00000667260 003 16 4487355 4487524 + 48 84 38 G T 4487378 319 24 TTGGGGTTCACATTGTATCTGGATTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 4437376 4437377 4437377 upstr_intron -25 -0.5 TTGGGGTTCACATTGTATCTGGATTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 162 394 0.998208073260701 0.99147553203831 0.994841802649505 NA NA 0.799181706582454 0.995481501767643 NA NA 0.199026366678248 -0.00400596972933398 NA 0.897331604175049 NA 0.0975101984744569 NA FALSE NA 0.001 -0.494 rs190038505 intron_variant&NMD_transcript_variant MODIFIER DNAJA3 HGNC 11808 ENST00000575106 3/5 rs190038505 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 AGT G,T 8.236e-06 16:4437377 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 intron_variant -0.497978 0.13218 0.024 0.295142 0.450334794791915 0.220043 0.3856771260961 FALSE 8.16053e-06 ENSE00000667260_005 ENSE00000667260 005 16 4487355 4487524 + 48 84 38 T G 4487395 321 41 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTGCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 4437393 4437394 4437394 upstr_intron -8 -0.145833333333333 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTGCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 223 374 0.997575928294154 1 0.998787964147077 NA NA 0.799181706582454 0.995481501767643 NA NA 0.198394221711701 0.0045184982323565 NA 0.897331604175049 NA 0.101456359972029 NA FALSE NA 0 -0.008 . splice_region_variant&intron_variant&NMD_transcript_variant LOW DNAJA3 HGNC 11808 ENST00000575106 3/5 1 NA TTC T,G 8.236e-06 16:4437394 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 splice_region_variant 1.110319 0.29666 0.4552 0.295142 0.791033279085539 0.398554 0.3856771260961 FALSE 4.06369e-06 ENSE00000667260_007 ENSE00000667260 007 16 4487355 4487524 + 48 84 38 A G 4487416 323 62 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTGTCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 4437414 4437415 4437415 exon 14 0.166666666666667 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTGTCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 469 35 1 1 1 NA NA 0.799181706582454 0.995481501767643 NA NA 0.200818293417546 0.0045184982323565 NA 0.897331604175049 NA 0.102668395824951 NA FALSE NA 1 7.26 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DNAJA3 HGNC 11808 ENST00000575106 4/6 1 NA TAT A,G 8.236e-06 16:4437415 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 missense_variant 6.066853 0.99487 0.99387 0.706548 0.997299338421824 0 0.3856771260961 FALSE 4.06128e-06 ENSE00000667260_010 ENSE00000667260 010 16 4487355 4487524 + 48 84 38 C A 4487442 326 88 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATACCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 4437440 4437441 4437441 exon 40 0.476190476190476 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATACCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 19 50 1 1 1 NA NA 0.799181706582454 0.995481501767643 NA NA 0.200818293417546 0.0045184982323565 NA 0.897331604175049 NA 0.102668395824951 NA FALSE NA 1 7.712 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DNAJA3 HGNC 11808 ENST00000575106 4/6 1 NA TCC C,A 8.236e-06 16:4437441 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 missense_variant 5.941817 0.99105 0.99199 0.706548 0.997111284857263 0 0.3856771260961 FALSE NA ENSE00000667260_011 ENSE00000667260 011 16 4487355 4487524 + 48 84 38 C T 4487462 327 108 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTTTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 4437460 4437461 4437461 exon -25 0.714285714285714 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTTTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 214 877 1 1 1 NA NA 0.799181706582454 0.995481501767643 NA NA 0.200818293417546 0.0045184982323565 NA 0.897331604175049 NA 0.102668395824951 NA FALSE NA 1 1.105 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DNAJA3 HGNC 11808 ENST00000575106 4/6 1 NA TCT C,T 1.647e-05 16:4437461 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 synonymous_variant 2.057951 0.96804 0.82269 0.706548 0.707571214990036 0 0.3856771260961 FALSE 8.12295e-06 ENSE00000667260_014 ENSE00000667260 014 16 4487355 4487524 + 48 84 38 T C 4487491 330 137 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAACATGACTTCGGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 4437489 4437490 4437490 downstr_intron 5 1.13513513513514 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAACATGACTTCGGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 61 30 1 1 1 NA NA 0.799181706582454 0.995481501767643 NA NA 0.200818293417546 0.0045184982323565 NA 0.897331604175049 NA 0.102668395824951 NA FALSE NA 0 -1.25 . splice_region_variant&intron_variant&NMD_transcript_variant LOW DNAJA3 HGNC 11808 ENST00000575106 4/5 1 NA ATA T,C 8.236e-06 16:4437490 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 splice_region_variant -0.3544 0.15651 0.01914 0.156188 0.456901475591319 0.33953 0.3856771260961 FALSE 2.03355e-05 ENSE00000667260_017 ENSE00000667260 017 16 4487355 4487524 + 48 84 38 G A 4487500 333 146 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCAGTGCATGCGGTCACTGCTGTTCAG 4437353 4437523 4437498 4437499 4437499 downstr_intron 14 1.37837837837838 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCAGTGCATGCGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 65 922 0.946447148620462 0.997245502206996 0.971846325413729 NA NA 0.799181706582454 0.995481501767643 NA NA 0.147265442038008 0.00176400043935221 NA 0.897331604175049 NA 0.0745147212386801 NA FALSE NA 0 -0.439 . intron_variant&NMD_transcript_variant MODIFIER DNAJA3 HGNC 11808 ENST00000575106 4/5 1 NA CGG G,A 2.471e-05 16:4437499 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 non_coding_transcript_exon_variant -0.4696 0.12136 0.04124 0.156188 0.373766785462439 0.123323 0.3856771260961 FALSE 1.63344e-05 ENSE00000667260_019 ENSE00000667260 019 16 4487355 4487524 + 48 84 38 G A 4487507 335 153 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATACGGTCACTGCTGTTCAG 4437353 4437523 4437505 4437506 4437506 downstr_intron 21 1.56756756756757 TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATACGGTCACTGCTGTTCAG TTGGGGTTCACATTGTATCTGGAGTAATTTATCATGTTTTTCCCTTAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAAGCCTATGAGGTAATATGACTTCGGTGCATGCGGTCACTGCTGTTCAG mutant NA NA NA NA NA 22 652 1 0.998883213437582 0.999441606718791 NA NA 0.799181706582454 0.995481501767643 NA NA 0.200818293417546 0.00340171166993808 NA 0.897331604175049 NA 0.102110002543742 NA FALSE NA 0 0.008 . intron_variant&NMD_transcript_variant MODIFIER DNAJA3 HGNC 11808 ENST00000575106 4/5 rs368031962 1 NA A:0.0002 A:0 TGC G,A 8.236e-06 16:4437506 DNAJA3 HGNC Symbol protein_coding 30970 ENSG00000103423 ENSE00003659897 non_coding_transcript_exon_variant 0.206562 0.22809 0.04964 0.156188 0.358357073138386 0.185612 0.3856771260961 FALSE NA ENSE00000667504_000 ENSE00000667504 000 16 4849655 4849824 - 32 96 42 NA NA NA NA NA AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 NA NA NA NA NA NA ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT natural NA NA NA NA NA 350 774 0.977793954611913 0.99189398823512 0.984843971423517 NA NA 0.977793954611913 0.99189398823512 NA NA 0 0 NA 0.984843971423517 NA 0 NA FALSE NA NA NA NA NA NA ROGDI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ROGDI NA NA NA ENSG00000067836 ENSE00003530205 NA NA NA NA NA NA NA 3.12930827517025e-12 FALSE NA ENSE00000667504_002 ENSE00000667504 002 16 4849655 4849824 - 32 96 42 C A 4849667 381 158 AGGCCCAGGAGTAAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799665 4799666 4799666 downstr_intron 20 1.64516129032258 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTTACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 194 242 0.992004800144944 0.961807305416103 0.976906052780524 NA NA 0.977793954611913 0.99189398823512 NA NA 0.0142108455330312 -0.0300866828190166 NA 0.984843971423517 NA -0.0079379186429927 NA FALSE NA 0 0.381 rs182661793 intron_variant&non_coding_transcript_variant MODIFIER ROGDI HGNC 29478 ENST00000591292 2/6 rs182661793 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TCA C,A 1.648e-05 16:4799666 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 intron_variant 0.454532 0.16023 0.0634 0.256391 0.782098643953503 0.0603433 3.12930827517025e-12 FALSE 4.23177e-06 ENSE00000667504_009 ENSE00000667504 009 16 4849655 4849824 - 32 96 42 G A 4849681 388 144 AGGCCCAGGAGTCAGGCCCGGGGGCAACTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799679 4799680 4799680 downstr_intron 6 1.19354838709677 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGTTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 86 182 0.966276701026869 1 0.983138350513435 NA NA 0.977793954611913 0.99189398823512 NA NA -0.0115172535850436 0.00810601176488002 NA 0.984843971423517 NA -0.00170562091008181 NA FALSE NA 0.971 1.476 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ROGDI HGNC 29478 ENST00000591292 2/6 1 NA AGC G,A 8.237e-06 16:4799680 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 splice_region_variant 0.566166 0.57757 0.18563 0.256391 0.841181490671174 0.85672 3.12930827517025e-12 FALSE 4.13121e-06 ENSE00000667504_012 ENSE00000667504 012 16 4849655 4849824 - 32 96 42 C T 4849696 391 129 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACTTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799694 4799695 4799695 exon -10 0.90625 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAAGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 22 221 0.8 1 0.9 NA NA 0.977793954611913 0.99189398823512 NA NA -0.177793954611913 0.00810601176488002 NA 0.984843971423517 NA -0.0848439714235165 NA FALSE NA 0.998 0.566 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4799695 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 splice_region_variant 1.529198 0.96971 0.74705 0.706548 0.809594171035274 0 3.12930827517025e-12 FALSE 2.04685e-05 ENSE00000667504_022 ENSE00000667504 022 16 4849655 4849824 - 32 96 42 C T 4849723 401 102 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTTTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799721 4799722 4799722 exon -37 0.625 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAAAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 28 260 0 0.0151758384305578 0.00758791921527889 NA NA 0.977793954611913 0.99189398823512 NA NA -0.977793954611913 -0.976718149804562 NA 0.984843971423517 NA -0.977256052208238 NA TRUE NA 0.334 -0.255 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4799722 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 synonymous_variant 0.690878 0.94943 0.20759 0.706548 0.739920029599254 0 3.12930827517025e-12 FALSE 8.14611e-06 ENSE00000667504_027 ENSE00000667504 027 16 4849655 4849824 - 32 96 42 G C 4849731 406 94 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCCGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799729 4799730 4799730 exon -45 0.541666666666667 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCGGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 44 541 0 0.0158209343138095 0.00791046715690475 NA NA 0.977793954611913 0.99189398823512 NA NA -0.977793954611913 -0.97607305392131 NA 0.984843971423517 NA -0.976933504266612 NA TRUE NA 1 4.321 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4799730 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 missense_variant 4.77295 0.9852 0.94783 0.706548 0.994160982146612 0 3.12930827517025e-12 FALSE 4.0708e-06 ENSE00000667504_028 ENSE00000667504 028 16 4849655 4849824 - 32 96 42 G A 4849731 407 94 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCAGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799729 4799730 4799730 exon -45 0.541666666666667 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCTGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 124 55 0.988685920527155 1 0.994342960263578 NA NA 0.977793954611913 0.99189398823512 NA NA 0.010891965915242 0.00810601176488002 NA 0.984843971423517 NA 0.00949898884006101 NA FALSE NA 1 4.321 NA NA NA ROGDI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ROGDI NA NA NA ENSG00000067836 ENSE00003530205 missense_variant 6.875158 0.98474 0.93793 0.706548 0.998820439963597 0 3.12930827517025e-12 FALSE 1.62832e-05 ENSE00000667504_029 ENSE00000667504 029 16 4849655 4849824 - 32 96 42 G A 4849732 408 93 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGACTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799730 4799731 4799731 exon -46 0.53125 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGTCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 225 16 0.988723855811341 1 0.994361927905671 NA NA 0.977793954611913 0.99189398823512 NA NA 0.0109299011994279 0.00810601176488002 NA 0.984843971423517 NA 0.00951795648215398 NA FALSE NA 1 6.584 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ROGDI HGNC 29478 ENST00000591292 2/7 1 NA GGC G,A 8.237e-06 16:4799731 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 synonymous_variant 0.9136 0.98928 0.96931 0.706548 0.723071611275538 0 3.12930827517025e-12 FALSE NA ENSE00000667504_031 ENSE00000667504 031 16 4849655 4849824 - 32 96 42 C G 4849741 410 84 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGGAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799739 4799740 4799740 exon 42 0.4375 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTCCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 10 65 1 1 1 NA NA 0.977793954611913 0.99189398823512 NA NA 0.0222060453880869 0.00810601176488002 NA 0.984843971423517 NA 0.0151560285764835 NA FALSE NA 1 0.707 rs145588848 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ROGDI HGNC 29478 ENST00000591292 2/7 rs145588848 1 NA G:0 G:0.0003 GCA C,G 0.000173 16:4799740 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 synonymous_variant 0.99668 0.95673 0.45923 0.706548 0.70879157374461 0 3.12930827517025e-12 FALSE 0.000240087 ENSE00000667504_036 ENSE00000667504 036 16 4849655 4849824 - 32 96 42 T C 4849775 415 50 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCACCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799773 4799774 4799774 exon 8 0.0833333333333333 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGGTGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 322 12 0.137786732892503 0.0439244909883008 0.0908556119404017 NA NA 0.977793954611913 0.99189398823512 NA NA -0.84000722171941 -0.947969497246819 NA 0.984843971423517 NA -0.893988359483115 NA TRUE NA 1 7.873 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ROGDI HGNC 29478 ENST00000591292 2/7 1 NA ATC T,C 4.118e-05 16:4799774 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 missense_variant 6.51312 0.99147 0.97974 0.706548 0.998609944147834 0 3.12930827517025e-12 FALSE 5.71251e-05 ENSE00000667504_041 ENSE00000667504 041 16 4849655 4849824 - 32 96 42 G A 4849792 420 33 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAAGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 4799790 4799791 4799791 upstr_intron -10 -0.214285714285714 ATGGAAGCTGGCGTGACCCCTCTGGATGACCCTTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 511 234 1 0.991408298632319 0.995704149316159 NA NA 0.977793954611913 0.99189398823512 NA NA 0.0222060453880869 -0.000485689602801154 NA 0.984843971423517 NA 0.0108601778926429 NA FALSE NA 0.012 -0.017 . intron_variant&non_coding_transcript_variant MODIFIER ROGDI HGNC 29478 ENST00000591292 1/6 1 NA AGG G,A 1.647e-05 16:4799791 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 intron_variant 0.501876 0.83881 0.03867 0 0.651943872544814 0.0771471 3.12930827517025e-12 FALSE 8.24872e-06 ENSE00000667504_046 ENSE00000667504 046 16 4849655 4849824 - 32 96 42 C G 4849810 425 15 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTGACGCCAGCTTCCAT 4799653 4799823 4799808 4799809 4799809 upstr_intron -28 -0.642857142857143 ATGGAAGCTGGCGTCACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 101 207 0.256713688800055 0.199593212247184 0.22815345052362 NA NA 0.977793954611913 0.99189398823512 NA NA -0.721080265811858 -0.792300775987936 NA 0.984843971423517 NA -0.756690520899897 NA TRUE NA 0 -1.463 . intron_variant&non_coding_transcript_variant MODIFIER ROGDI HGNC 29478 ENST00000591292 1/6 1 NA TCA C,G 8.243e-06 16:4799809 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 intron_variant 0.182373 0.15895 0.01492 0.119682 0.693158138190908 0.0678025 3.12930827517025e-12 FALSE 8.7408e-06 ENSE00000667504_047 ENSE00000667504 047 16 4849655 4849824 - 32 96 42 C T 4849812 426 13 AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCACCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATCTGGAAGCAGGGGTCATCCAGAGGGGTCATGCCAGCTTCCAT 4799653 4799823 4799810 4799811 4799811 upstr_intron -30 -0.69047619047619 ATGGAAGCTGGCATGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT mutant NA NA NA NA NA 36 170 1 0.93973091450816 0.96986545725408 NA NA 0.977793954611913 0.99189398823512 NA NA 0.0222060453880869 -0.0521630737269598 NA 0.984843971423517 NA -0.0149785141694365 NA FALSE NA 0 -1.135 . intron_variant&non_coding_transcript_variant MODIFIER ROGDI HGNC 29478 ENST00000591292 1/6 rs368094591 1 NA T:0 T:0.0001 ACG C,T 1.649e-05 16:4799811 ROGDI HGNC Symbol protein_coding 5982 ENSG00000067836 ENSE00003530205 intron_variant 0.301616 0.05074 6e-04 0.119682 0.755712127159924 0.0678025 3.12930827517025e-12 FALSE 1.77776e-05 ENSE00000667504_BRK ENSE00000667504 BRK 16 4849655 4849824 - 32 96 42 A,G; T,T NA NA NA AGGCCCAGGAGTCAGGCCCGGGGGCAGCTCGGCTTGAGGACCTCAGCGCCCGTCTTGAACTGGTAGCTCTGGTCCCGGCTGGTAAGCAGGTAAATGGCTTGGCTCACATGGTTTCTGGCATCCTGGATAAGGAAGCAGGGGTCATCCAGAGGGGTCACGCCAGCTTCCAT 4799653 4799823 NA NA NA NA NA NA ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCTTATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGCCGAGCTGCCCCCGGGCCTGACTCCTGGGCCT ATGGAAGCTGGCGTGACCCCTCTGGATGACCCCTGCTTCCAGATCCAGGATGCCAGAAACCATGTGAGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCTGAGGTCCTCAAGGTGAGCTGCCCCCGGGCCTGACTCCTGGGCCT control 304 105 0 0 0 NA NA NA NA NA NA NA 0.977793954611913 0.99189398823512 NA NA NA NA NA 0.984843971423517 NA NA NA NA NA NA NA NA NA NA ROGDI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ROGDI NA NA NA ENSG00000067836 ENSE00003530205 NA NA NA NA NA NA NA 3.12930827517025e-12 FALSE NA ENSE00000667902_000 ENSE00000667902 000 16 8860006 8860175 + 59 63 48 NA NA NA NA NA CTGTGCAGCTTCCCCAGATGTACGTGGTGCAAGCCCAGCTGCACTCACCTGGTTAATCATGCACGTCTCCAGCTCCTCCTGGGAGAAGCCCCTCTGCCCTCTTTCCTTGCTCTGAAACAATAGAACAGAACAAAATCTCAGAGATGCTCTGGGGTAGTCGGGGCTTCATC 8766148 8766318 NA NA NA NA NA NA GATGAAGCCCCGACTACCCCAGAGCATCTCTGAGATTTTGTTCTGTTCTATTGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAG GATGAAGCCCCGACTACCCCAGAGCATCTCTGAGATTTTGTTCTGTTCTATTGTTTCAGAGCAAGGAAAGAGGGCAGAGGGGCTTCTCCCAGGAGGAGCTGGAGACGTGCATGATTAACCAGGTGAGTGCAGCTGGGCTTGCACCACGTACATCTGGGGAAGCTGCACAG natural 44 36 0.997653350908962 0.979065397631641 0.988359374270301 615 628 0.926707216215074 0.999024466961659 0.962865841588367 0.997653350908962 0.979065397631641 0.926707216215074 0.999024466961659 0 0 0 0 0.988359374270301 0.962865841588367 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003481806 NA NA NA NA NA NA NA NA NA NA ENSE00000668103_000 ENSE00000668103 000 7 2297325 2297494 - 45 69 56 NA NA NA NA NA GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 NA NA NA NA NA NA GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT natural 113 85 0.961767034107086 0.888032349652053 0.92489969187957 2449 1995 0.995754872841611 0.996260636486688 0.996007754664149 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 0 0 0 0 0.92489969187957 0.996007754664149 0 0 0 FALSE FALSE NA NA NA NA NA SNX8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX8 NA NA NA ENSG00000106266 ENSE00000668103 NA NA NA NA NA NA NA 0.165170968578774 FALSE NA ENSE00000668103_001 ENSE00000668103 001 7 2297325 2297494 - 45 69 56 C T 2297343 53 152 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGAGGCAGAACTTTCAGGAAT 2257689 2257859 2257707 2257708 2257708 downstr_intron 27 1.61363636363636 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGAGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 964 272 0.992777201638166 0.996702636564748 0.994739919101457 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA -0.00297767120344516 0.000442000078060611 0.92489969187957 0.996007754664149 NA -0.00126783556269228 NA FALSE NA 0 0.302 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 rs377058575 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0018 T:0 CCC C,T 0.0001565 7:2257708 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 non_coding_transcript_exon_variant 0.376911 0.24802 0.05338 0.256867 0.392680885209725 0.520773 0.165170968578774 FALSE 0.000113965 ENSE00000668103_003 ENSE00000668103 003 7 2297325 2297494 - 45 69 56 C G 2297348 55 147 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGCCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257712 2257713 2257713 downstr_intron 22 1.5 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGCCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 240 433 1 0.999104011352677 0.999552005676339 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 0.00284337486598962 0.92489969187957 0.996007754664149 NA 0.00354425101218914 NA FALSE NA 0 0.17 NA NA NA SNX8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2257713 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 non_coding_transcript_exon_variant 0.19916 0.2429 0.06541 0.256867 0.648633799547599 0.0812699 0.165170968578774 FALSE 4.06736e-06 ENSE00000668103_004 ENSE00000668103 004 7 2297325 2297494 - 45 69 56 A C 2297350 56 145 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTGGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257714 2257715 2257715 downstr_intron 20 1.45454545454545 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTGGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 171 310 0.994330202043339 0.973846421326488 0.984088311684914 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA -0.00142467079827224 -0.0224142151601995 0.92489969187957 0.996007754664149 NA -0.0119194429792359 NA FALSE NA 0 0.033 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA CAA A,C 9.884e-05 7:2257715 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 non_coding_transcript_exon_variant -0.163696 0.23296 0.0423 0.256867 0.409161209287067 0.146514 0.165170968578774 FALSE 9.75903e-05 ENSE00000668103_005 ENSE00000668103 005 7 2297325 2297494 - 45 69 56 G A 2297353 57 142 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTTCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257717 2257718 2257718 downstr_intron 17 1.38636363636364 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTTCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 1189 182 0.997653185777345 1 0.998826592888673 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00189831293573395 0.00373936351331239 0.92489969187957 0.996007754664149 NA 0.00281883822452317 NA FALSE NA 0 0.017 NA NA NA SNX8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2257718 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 non_coding_transcript_exon_variant -0.032978 0.20581 0.03969 0.256867 0.292285165618099 0.152741 0.165170968578774 FALSE 1.21953e-05 ENSE00000668103_008 ENSE00000668103 008 7 2297325 2297494 - 45 69 56 C A 2297356 60 139 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTTCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257720 2257721 2257721 downstr_intron 14 1.31818181818182 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTTCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 390 73 1 0.999476964589098 0.999738482294549 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 0.00321632810241057 0.92489969187957 0.996007754664149 NA 0.00373072763039961 NA FALSE NA 0.001 0.126 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA GCA C,A 1.647e-05 7:2257721 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 non_coding_transcript_exon_variant 0.368162 0.402 0.12638 0.256867 0.557466569567613 0.585207 0.165170968578774 FALSE 1.62639e-05 ENSE00000668103_009 ENSE00000668103 009 7 2297325 2297494 - 45 69 56 G C 2297376 61 119 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCGTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257740 2257741 2257741 exon -7 0.91304347826087 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCGTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 674 997 1 0.90663487145817 0.953317435729085 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 -0.0896257650285179 0.92489969187957 0.996007754664149 NA -0.0426903189350646 NA FALSE NA 0.992 0.261 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 COSM3923398 1 NA AGG G,C 1.647e-05 7:2257741 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 synonymous_variant -0.572845 0.97413 0.8165 0.706548 0.478837826564414 0 0.165170968578774 FALSE 8.12262e-06 ENSE00000668103_010 ENSE00000668103 010 7 2297325 2297494 - 45 69 56 C A 2297379 62 116 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCATTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257743 2257744 2257744 exon -10 0.869565217391304 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCATTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 478 310 0.997123742044956 0.983192812333606 0.990158277189281 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00136886920334478 -0.0130678241530816 0.92489969187957 0.996007754664149 NA -0.00584947747486841 NA FALSE NA 1 4.542 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA ACT C,A 8.236e-06 7:2257744 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 missense_variant 5.238533 0.98994 0.97514 0.706548 0.970597487861684 0 0.165170968578774 FALSE 8.12242e-06 ENSE00000668103_011 ENSE00000668103 011 7 2297325 2297494 - 45 69 56 T C 2297380 63 115 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCGGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257744 2257745 2257745 exon -11 0.855072463768116 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCGGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 290 144 1 1 1 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 0.00373936351331239 0.92489969187957 0.996007754664149 NA 0.00399224533585052 NA FALSE NA 1 7.548 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA CTG T,C 8.236e-06 7:2257745 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 missense_variant 4.623926 0.99149 0.98445 0.706548 0.993648986954098 0 0.165170968578774 FALSE 4.06124e-06 ENSE00000668103_012 ENSE00000668103 012 7 2297325 2297494 - 45 69 56 G A 2297387 64 108 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATTTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257751 2257752 2257752 exon -18 0.753623188405797 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATTTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 339 1330 1 0.997765823570332 0.998882911785166 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 0.001505187083644 0.92489969187957 0.996007754664149 NA 0.00287515712101633 NA FALSE NA 0.89 0.327 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2257752 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 synonymous_variant -0.19726 0.69906 0.26887 0.706548 0.448640153581058 0 0.165170968578774 FALSE 4.06124e-06 ENSE00000668103_013 ENSE00000668103 013 7 2297325 2297494 - 45 69 56 G T 2297387 65 108 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATATGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257751 2257752 2257752 exon -18 0.753623188405797 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATATGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 881 511 0.852715647668943 0.989139833471985 0.920927740570464 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA -0.143039225172668 -0.0071208030147023 0.92489969187957 0.996007754664149 NA -0.0750800140936852 NA FALSE NA 0.89 0.327 NA NA NA SNX8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX8 NA NA NA ENSG00000106266 ENSE00000668103 missense_variant 1.5999 0.73337 0.67402 0.706548 0.978839531228478 0 0.165170968578774 FALSE 1.21837e-05 ENSE00000668103_014 ENSE00000668103 014 7 2297325 2297494 - 45 69 56 A G 2297393 66 102 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCCTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257757 2257758 2257758 exon -24 0.666666666666667 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCCTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 55 327 1 0.994584841487984 0.997292420743992 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 -0.00167579499870318 0.92489969187957 0.996007754664149 NA 0.00128466607984273 NA FALSE NA 0.994 0.237 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA AAG A,G 0.000939 7:2257758 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 synonymous_variant -0.517303 0.94673 0.22973 0.706548 0.396792154221314 0 0.165170968578774 FALSE 0.00127513 ENSE00000668103_015 ENSE00000668103 015 7 2297325 2297494 - 45 69 56 G T 2297400 67 95 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAAACTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257764 2257765 2257765 exon -31 0.565217391304348 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAAACTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 163 95 1 1 1 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 0.00373936351331239 0.92489969187957 0.996007754664149 NA 0.00399224533585052 NA FALSE NA 1 3.401 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA GGT G,T 8.236e-06 7:2257765 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 missense_variant 1.348031 0.97223 0.94071 0.706548 0.976902319681656 0 0.165170968578774 FALSE 4.06091e-06 ENSE00000668103_016 ENSE00000668103 016 7 2297325 2297494 - 45 69 56 T C 2297407 68 88 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAGGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257771 2257772 2257772 exon 32 0.463768115942029 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAGGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 706 127 0.998060364733098 0.979351828406771 0.988706096569935 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00230549189148688 -0.0169088080799166 0.92489969187957 0.996007754664149 NA -0.00730165809421485 NA FALSE NA 1 7.548 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA CTT T,C 8.236e-06 7:2257772 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 missense_variant 3.577183 0.99146 0.98443 0.706548 0.933179182257439 0 0.165170968578774 FALSE 8.12183e-06 ENSE00000668103_017 ENSE00000668103 017 7 2297325 2297494 - 45 69 56 C T 2297409 69 86 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAAAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257773 2257774 2257774 exon 30 0.434782608695652 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAAAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 141 1453 0.997044239182902 0.997846822455488 0.997445530819195 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00128936634129062 0.00158618596880011 0.92489969187957 0.996007754664149 NA 0.00143777615504537 NA FALSE NA 1 1.616 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA TCT C,T 2.471e-05 7:2257774 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 synonymous_variant 1.051959 0.97899 0.83541 0.706548 0.409800785852151 0 0.165170968578774 FALSE 2.03054e-05 ENSE00000668103_018 ENSE00000668103 018 7 2297325 2297494 - 45 69 56 G A 2297418 70 77 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGATGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257782 2257783 2257783 exon 21 0.304347826086957 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGATGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 94 353 0.95 0.992649157307515 0.971324578653757 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA -0.0457548728416114 -0.00361147917917271 0.92489969187957 0.996007754664149 NA -0.024683176010392 NA FALSE NA 0.165 -0.258 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA CGT G,A 8.236e-06 7:2257783 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 synonymous_variant 0.678419 0.9569 0.11054 0.706548 0.488317807878196 0 0.165170968578774 FALSE 8.12229e-06 ENSE00000668103_019 ENSE00000668103 019 7 2297325 2297494 - 45 69 56 C A 2297420 71 75 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACTACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257784 2257785 2257785 exon 19 0.27536231884058 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACTACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 311 98 0.99252482529877 0.981829906352286 0.987177365825528 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA -0.00323004754284151 -0.0144307301344013 0.92489969187957 0.996007754664149 NA -0.00883038883862142 NA FALSE NA 1 7.341 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 COSM3880233 1 NA TCG C,A 6.589e-05 7:2257785 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 missense_variant 6.84092 0.99384 0.9887 0.706548 0.991149263486851 0 0.165170968578774 FALSE 4.46722e-05 ENSE00000668103_021 ENSE00000668103 021 7 2297325 2297494 - 45 69 56 C T 2297429 73 66 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGAAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257793 2257794 2257794 exon 10 0.144927536231884 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGAAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 416 153 0.962620631575001 1 0.9813103157875 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA -0.0331342412666104 0.00373936351331239 0.92489969187957 0.996007754664149 NA -0.014697438876649 NA FALSE NA 1 7.341 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 rs373584203 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 7:2257794 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 missense_variant 6.869859 0.99363 0.98591 0.706548 0.999219410899553 0 0.165170968578774 FALSE 4.06121e-06 ENSE00000668103_025 ENSE00000668103 025 7 2297325 2297494 - 45 69 56 G A 2297451 77 44 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCTCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257815 2257816 2257816 upstr_intron -13 -0.214285714285714 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCTCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 207 735 1 0.999584698220577 0.999792349110288 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 0.00332406173388911 0.92489969187957 0.996007754664149 NA 0.00378459444613888 NA FALSE NA 0.096 1.369 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 rs201130305 1 NA A:0.0002 A:0.001 GGG G,A 0.0003047 7:2257816 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 intron_variant -0.12794 0.25984 0.03559 0.099367 0.567045598759301 0.112489 0.165170968578774 FALSE 0.000312856 ENSE00000668103_027 ENSE00000668103 027 7 2297325 2297494 - 45 69 56 C T 2297462 79 33 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGAGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257826 2257827 2257827 upstr_intron -24 -0.410714285714286 GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGAGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 23 310 1 0.99948948903617 0.999744744518085 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 0.00322885254948224 0.92489969187957 0.996007754664149 NA 0.00373698985393545 NA FALSE NA 0 -0.335 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA CCC C,T 1.647e-05 7:2257827 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 intron_variant 0.318109 0.28352 0.06606 0.099367 0.788042108512244 0.112489 0.165170968578774 FALSE 8.13154e-06 ENSE00000668103_028 ENSE00000668103 028 7 2297325 2297494 - 45 69 56 G A 2297468 80 27 GGCAGGGACCGGGTCCTATGTGCGTCTGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257832 2257833 2257833 upstr_intron -30 -0.517857142857143 GGCAGGGACCGGGTCCTATGTGCGTCTGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 18 754 1 0.993227858008993 0.996613929004496 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA 0.00424512715838865 -0.00303277847769501 0.92489969187957 0.996007754664149 NA 0.000606174340346821 NA FALSE NA 0 -2.538 rs185311702 upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 rs185311702 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGG G,A 5.765e-05 7:2257833 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 intron_variant -0.058635 0.10679 0.00468 0.099367 0.603591048904315 0.0792045 0.165170968578774 FALSE 4.88428e-05 ENSE00000668103_029 ENSE00000668103 029 7 2297325 2297494 - 45 69 56 G T 2297469 81 26 GGCAGGGACCGGGTCCTATGTGCGTACGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257833 2257834 2257834 upstr_intron -31 -0.535714285714286 GGCAGGGACCGGGTCCTATGTGCGTACGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 338 199 0.993969581112797 1 0.996984790556398 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA -0.00178529172881459 0.00373936351331239 0.92489969187957 0.996007754664149 NA 0.000977035892248901 NA FALSE NA 0.001 0.284 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 rs554120847 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GGA G,T 8.236e-06 7:2257834 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 intron_variant -0.022905 0.172 0.04925 0.099367 0.492956323946165 0.0792045 0.165170968578774 FALSE 4.07004e-06 ENSE00000668103_030 ENSE00000668103 030 7 2297325 2297494 - 45 69 56 C G 2297483 82 12 GGCAGGGACCGCGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 2257847 2257848 2257848 upstr_intron -45 -0.785714285714286 GGCAGGGACCGCGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT mutant NA NA NA NA NA 17 1046 0.886692804803309 0.99984877321089 0.943270789007099 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 NA NA -0.109062068038303 0.00358813672420222 0.92489969187957 0.996007754664149 NA -0.0527369656570502 NA FALSE NA 0 0.025 . upstream_gene_variant MODIFIER SNX8 HGNC 14972 ENST00000480807 1 NA CCC C,G 8.237e-06 7:2257848 SNX8 HGNC Symbol protein_coding 102548 ENSG00000106266 ENSE00000668103 intron_variant 0.092245 0.22071 0.12293 0.099367 0.467777535858074 0.0792045 0.165170968578774 FALSE 4.09326e-06 ENSE00000668103_BRK ENSE00000668103 BRK 7 2297325 2297494 - 45 69 56 A,G; T,T NA NA NA GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCTTGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGCCGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT 2257689 2257859 NA NA NA NA NA NA GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCTTGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGCCGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT GGCAGGGACCGGGTCCTATGTGCGTCCGCGTGGGTGAGCTCCCCCTCGCCTTCCAGGGTAAGCAGGAAGAGAACGACGTGGTGGAGAAGCTGAACCTCTTCTTGGATCTGCTGCAGTCCTATAAGGTGAGTCTTGGCTGCTCCTTGGCTGGGGGCAGAACTTTCAGGAAT control 638 917 0 0 0 98 10 0 0 0 0.961767034107086 0.888032349652053 0.995754872841611 0.996260636486688 -0.961767034107086 -0.888032349652053 -0.995754872841611 -0.996260636486688 0.92489969187957 0.996007754664149 -0.92489969187957 -0.996007754664149 0.0711080627845799 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX8 NA NA NA ENSG00000106266 ENSE00000668103 NA NA NA NA NA NA NA 0.165170968578774 FALSE NA ENSE00000668406_000 ENSE00000668406 000 16 11141084 11141253 + 65 51 54 NA NA NA NA NA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA 11047226 11047396 NA NA NA NA NA NA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA natural NA NA NA NA NA 913 650 0.998731021084986 0.997737031062173 0.99823402607358 NA NA 0.998731021084986 0.997737031062173 NA NA 0 0 NA 0.99823402607358 NA 0 NA FALSE NA NA NA NA NA NA CLEC16A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLEC16A NA NA NA ENSG00000038532 ENSE00003467641 NA NA NA NA NA NA NA 0.0101389568529136 FALSE NA ENSE00000668406_001 ENSE00000668406 001 16 11141084 11141253 + 65 51 54 A G 11141102 905 19 ATACTCTGTTGTTTATGGGAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA 11047226 11047396 11047244 11047245 11047245 upstr_intron -47 -0.707692307692308 ATACTCTGTTGTTTATGGGAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA mutant NA NA NA NA NA 664 32 1 1 1 NA NA 0.998731021084986 0.997737031062173 NA NA 0.00126897891501365 0.00226296893782663 NA 0.99823402607358 NA 0.00176597392642014 NA FALSE NA 0 -0.586 . intron_variant MODIFIER CLEC16A HGNC 29013 ENST00000409790 16/23 1 NA GAA A,G 8.282e-06 16:11047245 CLEC16A HGNC Symbol protein_coding 237701 ENSG00000038532 ENSE00003467641 intron_variant 1.550812 0.43741 0.09709 0.099367 0.871779833758388 0.434922 0.0101389568529136 FALSE NA ENSE00000668406_003 ENSE00000668406 003 16 11141084 11141253 + 65 51 54 G A 11141112 907 29 ATACTCTGTTGTTTATGGAAAAAAATATAAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA 11047226 11047396 11047254 11047255 11047255 upstr_intron -37 -0.553846153846154 ATACTCTGTTGTTTATGGAAAAAAATATAAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA mutant NA NA NA NA NA 573 86 0.996438289094343 1 0.998219144547172 NA NA 0.998731021084986 0.997737031062173 NA NA -0.00229273199064328 0.00226296893782663 NA 0.99823402607358 NA -1.4881526408328e-05 NA FALSE NA 0.002 0.095 . intron_variant MODIFIER CLEC16A HGNC 29013 ENST00000409790 16/23 1 NA TGA G,A 2.484e-05 16:11047255 CLEC16A HGNC Symbol protein_coding 237701 ENSG00000038532 ENSE00003467641 intron_variant 1.092234 0.29349 0.05666 0.099367 0.680967031912157 0.332514 0.0101389568529136 FALSE 3.19436e-05 ENSE00000668406_008 ENSE00000668406 008 16 11141084 11141253 + 65 51 54 T C 11141143 912 60 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTCTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA 11047226 11047396 11047285 11047286 11047286 upstr_intron -6 -0.0769230769230769 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTCTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA mutant NA NA NA NA NA 25 19 1 0.953401269457008 0.976700634728504 NA NA 0.998731021084986 0.997737031062173 NA NA 0.00126897891501365 -0.0443357616051649 NA 0.99823402607358 NA -0.0215333913450756 NA FALSE NA 0.539 3.858 . splice_region_variant&intron_variant LOW CLEC16A HGNC 29013 ENST00000409790 16/23 rs200370446 1 NA TTT T,C 8.278e-06 16:11047286 CLEC16A HGNC Symbol protein_coding 237701 ENSG00000038532 ENSE00003467641 splice_region_variant 1.351192 0.85745 0.78097 0.295142 0.91660853453138 0.872769 0.0101389568529136 FALSE 8.26672e-06 ENSE00000668406_015 ENSE00000668406 015 16 11141084 11141253 + 65 51 54 C G 11141198 919 115 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGAGAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA 11047226 11047396 11047340 11047341 11047341 exon -2 0.980392156862745 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGAGAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA mutant NA NA NA NA NA 164 89 1 1 1 NA NA 0.998731021084986 0.997737031062173 NA NA 0.00126897891501365 0.00226296893782663 NA 0.99823402607358 NA 0.00176597392642014 NA FALSE NA 1 5.241 . missense_variant&splice_region_variant MODERATE CLEC16A HGNC 29013 ENST00000409790 17/24 rs548319287 1 tolerated(0.47) possibly_damaging(0.536) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 ACA C,G 8.274e-06 16:11047341 CLEC16A HGNC Symbol protein_coding 237701 ENSG00000038532 ENSE00003467641 missense_variant 3.91598 0.9479 0.93109 0.732398 0.97821612395594 0 0.0101389568529136 FALSE NA ENSE00000668406_017 ENSE00000668406 017 16 11141084 11141253 + 65 51 54 G T 11141209 921 126 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGTGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA 11047226 11047396 11047351 11047352 11047352 downstr_intron 10 1.18867924528302 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGTGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA mutant NA NA NA NA NA 109 108 1 1 1 NA NA 0.998731021084986 0.997737031062173 NA NA 0.00126897891501365 0.00226296893782663 NA 0.99823402607358 NA 0.00176597392642014 NA FALSE NA 0 -0.054 NA NA NA CLEC16A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:11047352 CLEC16A HGNC Symbol protein_coding 237701 ENSG00000038532 ENSE00003467641 non_coding_transcript_exon_variant -0.023273 0.19668 0.04568 0.062308 0.730578784582517 0.196663 0.0101389568529136 FALSE 1.2648e-05 ENSE00000668406_019 ENSE00000668406 019 16 11141084 11141253 + 65 51 54 G T 11141211 923 128 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGTCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA 11047226 11047396 11047353 11047354 11047354 downstr_intron 12 1.22641509433962 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGTCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA mutant NA NA NA NA NA 104 80 0.968673696259496 1 0.984336848129748 NA NA 0.998731021084986 0.997737031062173 NA NA -0.0300573248254901 0.00226296893782663 NA 0.99823402607358 NA -0.0138971779438317 NA FALSE NA 0.001 0.25 . intron_variant MODIFIER CLEC16A HGNC 29013 ENST00000409790 17/23 1 NA GGC G,T 8.274e-06 16:11047354 CLEC16A HGNC Symbol protein_coding 237701 ENSG00000038532 ENSE00003467641 non_coding_transcript_exon_variant -0.289419 0.19509 0.07079 0.062308 0.564272383587183 0.125877 0.0101389568529136 FALSE 1.26597e-05 ENSE00000668406_020 ENSE00000668406 020 16 11141084 11141253 + 65 51 54 C G 11141218 924 135 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGAGACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA 11047226 11047396 11047360 11047361 11047361 downstr_intron 19 1.35849056603774 ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGAGACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA ATACTCTGTTGTTTATGGAAAAAAATATGAATAATCTCCTCTTCCCTCCCTTCCTTTCTTTTTAGGGAGAAGACATTTTTTTGGACATGTTTGAAGATGAGTATAGGAGCATGACAGTAAGTGAGGGGCTGGGACACACTTGGGCTGGTGTGCGCCTGTGTCCCTGCCAA mutant NA NA NA NA NA 118 193 1 1 1 NA NA 0.998731021084986 0.997737031062173 NA NA 0.00126897891501365 0.00226296893782663 NA 0.99823402607358 NA 0.00176597392642014 NA FALSE NA 0 -2.245 . intron_variant MODIFIER CLEC16A HGNC 29013 ENST00000409790 17/23 rs568437425 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 ACA C,G 4.964e-05 16:11047361 CLEC16A HGNC Symbol protein_coding 237701 ENSG00000038532 ENSE00003467641 non_coding_transcript_exon_variant -0.358278 0.15938 0.05882 0.062308 0.356470512424802 0.17825 0.0101389568529136 FALSE 3.0236e-05 ENSE00000668638_000 ENSE00000668638 000 X 43627853 43628022 - 48 63 59 NA NA NA NA NA CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC 43768605 43768775 NA NA NA NA NA NA CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC natural 148 211 0.981778784026689 0.943125462671437 0.962452123349063 8600 11467 0.950946306481274 0.982124347249964 0.966535326865619 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 0 0 0 0 0.962452123349063 0.966535326865619 0 0 0 FALSE FALSE NA NA NA NA NA MAOB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAOB NA NA NA ENSG00000069535 ENSE00003504290 NA NA NA NA NA NA NA 0.970339617070938 TRUE NA ENSE00000668638_001 ENSE00000668638 001 X 43627853 43628022 - 48 63 59 A G 43627863 365 160 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTCCTCTAAACCC 43768605 43768775 43768615 43768616 43768616 downstr_intron 38 1.80851063829787 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTCCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC mutant NA NA NA NA NA 3802 2127 0.968161855905516 0.994140938501789 0.981151397203653 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 NA NA 0.0172155494242429 0.0120165912518245 0.962452123349063 0.966535326865619 NA 0.0146160703380337 NA FALSE NA 0 -1.1 . intron_variant MODIFIER MAOB HGNC 6834 ENST00000538942 13/13 rs199611622 1 G:0.0008 G:0 NA G:0 G:0 G:0 GAA A,G 8.241e-06 X:43768616 MAOB HGNC Symbol protein_coding 115836 ENSG00000069535 ENSE00003504290 intron_variant -0.130873 0.07983 0.00684 0 0.72256156015275 0.046323 0.970339617070938 TRUE 5.79687e-06 ENSE00000668638_002 ENSE00000668638 002 X 43627853 43628022 - 48 63 59 A T 43627868 366 155 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATAACTTTTCTCTAAACCC 43768605 43768775 43768620 43768621 43768621 downstr_intron 33 1.70212765957447 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATAACTTTTCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC mutant NA NA NA NA NA 1320 2433 0.861673630444427 0.999869972227141 0.930771801335784 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 NA NA -0.089272676036847 0.0177456249771774 0.962452123349063 0.966535326865619 NA -0.0357635255298348 NA FALSE NA 0 -0.075 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:43768621 MAOB HGNC Symbol protein_coding 115836 ENSG00000069535 ENSE00003504290 intron_variant 0.205249 0.20639 0.10177 0 0.79788006867373 0.046323 0.970339617070938 TRUE 5.74323e-06 ENSE00000668638_003 ENSE00000668638 003 X 43627853 43628022 - 48 63 59 A G 43627868 367 155 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATACCTTTTCTCTAAACCC 43768605 43768775 43768620 43768621 43768621 downstr_intron 33 1.70212765957447 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATACCTTTTCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC mutant NA NA NA NA NA 717 1512 0.98535226977202 0.900019883136161 0.94268607645409 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 NA NA 0.0344059632907461 -0.0821044641138029 0.962452123349063 0.966535326865619 NA -0.0238492504115284 NA FALSE NA 0 -0.075 NA NA NA MAOB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAOB NA NA NA ENSG00000069535 ENSE00003504290 intron_variant 0.428502 0.19737 0.07226 0 0.805692835762485 0.046323 0.970339617070938 TRUE 2.29729e-05 ENSE00000668638_004 ENSE00000668638 004 X 43627853 43628022 - 48 63 59 T C 43627893 368 130 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTGTGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC 43768605 43768775 43768645 43768646 43768646 downstr_intron 8 1.17021276595745 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTGTGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC mutant NA NA NA NA NA 1136 1310 0.960534870751456 0.999270402176653 0.979902636464054 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 NA NA 0.00958856427018218 0.0171460549266889 0.962452123349063 0.966535326865619 NA 0.0133673095984355 NA FALSE NA 0.013 0.846 rs148113949 splice_region_variant&intron_variant LOW MAOB HGNC 6834 ENST00000538942 13/13 rs148113949 1 C:0.0484 C:0 NA C:0 C:0 C:0 C:0.0456 C:0 ATA T,C 0.004358 X:43768646 MAOB HGNC Symbol protein_coding 115836 ENSG00000069535 ENSE00003504290 splice_region_variant 0.533851 0.22935 0.31839 0 0.680263260711515 0.223806 0.970339617070938 TRUE 0.00416237 ENSE00000668638_005 ENSE00000668638 005 X 43627853 43628022 - 48 63 59 T C 43627914 369 109 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGGACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC 43768605 43768775 43768666 43768667 43768667 exon -14 0.793650793650794 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGGACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC mutant NA NA NA NA NA 775 1490 1 0.997822313171899 0.99891115658595 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 NA NA 0.0490536935187265 0.0156979659219352 0.962452123349063 0.966535326865619 NA 0.0323758297203308 NA FALSE NA 1 6.82 . 3_prime_UTR_variant MODIFIER MAOB HGNC 6834 ENST00000538942 13/14 1 NA TTC T,C 1.648e-05 X:43768667 MAOB HGNC Symbol protein_coding 115836 ENSG00000069535 ENSE00003504290 missense_variant 6.56118 0.99274 0.97967 0 0.999068610647136 0 0.970339617070938 TRUE 1.12262e-05 ENSE00000668638_006 ENSE00000668638 006 X 43627853 43628022 - 48 63 59 C T 43627936 370 87 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAAAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC 43768605 43768775 43768688 43768689 43768689 exon 28 0.444444444444444 CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAAAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC mutant NA NA NA NA NA 900 2543 0.99931208389306 0.994184351337043 0.996748217615052 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 NA NA 0.0483657774117869 0.0120600040870786 0.962452123349063 0.966535326865619 NA 0.0302128907494328 NA FALSE NA 1 1.745 . missense_variant MODERATE MAOB HGNC 6834 ENST00000538942 13/14 1 benign(0.067) NA TCT C,T 1.648e-05 X:43768689 MAOB HGNC Symbol protein_coding 115836 ENSG00000069535 ENSE00003504290 missense_variant 2.275879 0.97932 0.79274 0 0.980918347447266 0 0.970339617070938 TRUE 1.68352e-05 ENSE00000668638_008 ENSE00000668638 008 X 43627853 43628022 - 48 63 59 T C 43628007 372 16 CAGATTAGAAGAAAGGTGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC 43768605 43768775 43768759 43768760 43768760 upstr_intron -44 -0.728813559322034 CAGATTAGAAGAAAGGTGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC mutant NA NA NA NA NA 1193 1015 0.996924244448047 0.9998066060206 0.998365425234323 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 NA NA 0.0459779379667736 0.0176822587706358 0.962452123349063 0.966535326865619 NA 0.0318300983687047 NA FALSE NA 0 -0.159 . intron_variant MODIFIER MAOB HGNC 6834 ENST00000538942 12/13 rs374466611 1 NA C:0.0003 C:0 ATC T,C 1.649e-05 X:43768760 MAOB HGNC Symbol protein_coding 115836 ENSG00000069535 ENSE00003504290 intron_variant 0.410318 0.16035 0.04375 0 0.842816094173377 0.046323 0.970339617070938 TRUE 1.75224e-05 ENSE00000668638_BRK ENSE00000668638 BRK X 43627853 43628022 - 48 63 59 A,G; T,T NA NA NA CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCTTATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGCCAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC 43768605 43768775 NA NA NA NA NA NA CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCTTATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGCCAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC CAGATTAGAAGAAAGATGGTGTCACTTTTGCTATTTGCCAGTGTGTTCTTTCATTTCAGATCCTGCATGCCATGGGGAAGATTCCAGAGGATGAAATCTGGCAGTCAGAACCAGAGTCTGTGGTAGGCTATGTTTTATTTCATGAAATTAGATATCTTTTCTCTAAACCC control 16 64 0 0.0412433235058689 0.0206216617529345 366 1466 0.00216214987133186 0.0309188618021247 0.0165405058367283 0.981778784026689 0.943125462671437 0.950946306481274 0.982124347249964 -0.981778784026689 -0.901882139165568 -0.948784156609942 -0.951205485447839 0.962452123349063 0.966535326865619 -0.941830461596129 -0.94999482102889 0.00816435943276184 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAOB NA NA NA ENSG00000069535 ENSE00003504290 NA NA NA NA NA NA NA 0.970339617070938 TRUE NA ENSE00000668750_000 ENSE00000668750 000 17 2909202 2909371 + 47 87 36 NA NA NA NA NA GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 NA NA NA NA NA NA GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT natural 77 53 0.999784166724704 0.994180792267613 0.996982479496158 1790 2839 0.994141872033337 0.998369161613729 0.996255516823533 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 0 0 0 0 0.996982479496158 0.996255516823533 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAP1GAP2 NA NA NA ENSG00000132359 ENSE00003664553 NA NA NA NA NA NA NA 0.95593855271305 TRUE NA ENSE00000668750_001 ENSE00000668750 001 17 2909202 2909371 + 47 87 36 G T 2909215 319 14 GCAACAGCCGAGATTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005920 3005921 3005921 upstr_intron -34 -0.702127659574468 GCAACAGCCGAGATTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 28 405 1 1 1 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 0.00163083838627065 0.996982479496158 0.996255516823533 NA 0.00374448317646681 NA FALSE NA 0 -0.395 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:3005921 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 intron_variant -0.278314 0.19388 0.02608 0.055982 0.608441123024455 0.046875 0.95593855271305 TRUE 0.000682433 ENSE00000668750_002 ENSE00000668750 002 17 2909202 2909371 + 47 87 36 G C 2909215 320 14 GCAACAGCCGAGACTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005920 3005921 3005921 upstr_intron -34 -0.702127659574468 GCAACAGCCGAGACTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant 26 81 0.888434796365704 0.85 0.869217398182852 53 426 0.995245915403041 0.963556539352583 0.979401227377812 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 -0.111349370359 -0.144180792267613 0.00110404336970427 -0.0348126222611462 0.996982479496158 0.996255516823533 -0.127765081313306 -0.016854289445721 0.110910791867586 FALSE FALSE 0 -0.395 NA NA NA RAP1GAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAP1GAP2 NA NA NA ENSG00000132359 ENSE00003664553 intron_variant -0.405385 0.15277 0.02113 0.055982 0.43397868297325 0.046875 0.95593855271305 TRUE 4.0621e-06 ENSE00000668750_003 ENSE00000668750 003 17 2909202 2909371 + 47 87 36 C T 2909224 321 23 GCAACAGCCGAGAGTGACAGACTTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005929 3005930 3005930 upstr_intron -25 -0.51063829787234 GCAACAGCCGAGAGTGACAGACTTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant 30 10 1 1 1 92 93 1 0.978654302332176 0.989327151166088 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 0.000215833275296284 0.00581920773238687 0.00585812796666296 -0.0197148592815535 0.996982479496158 0.996255516823533 0.00301752050384158 -0.00692836565744526 0.00994588616128683 FALSE FALSE 0 -0.561 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA CCT C,T 2.481e-05 17:3005930 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 intron_variant 0.054683 0.157 0.01715 0.078448 0.504887889767251 0.046875 0.95593855271305 TRUE 2.03067e-05 ENSE00000668750_004 ENSE00000668750 004 17 2909202 2909371 + 47 87 36 G T 2909226 322 25 GCAACAGCCGAGAGTGACAGACCTTAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005931 3005932 3005932 upstr_intron -23 -0.468085106382979 GCAACAGCCGAGAGTGACAGACCTTAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 881 251 0.997731005397837 0.993853352462722 0.995792178930279 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00358913336449995 -0.0045158091510078 0.996982479496158 0.996255516823533 NA -0.000463337893253923 NA FALSE NA 0 -0.362 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA TGA G,T 8.271e-06 17:3005932 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 intron_variant -0.112 0.20208 0.03938 0.078448 0.491781907667594 0.046875 0.95593855271305 TRUE 4.06134e-06 ENSE00000668750_005 ENSE00000668750 005 17 2909202 2909371 + 47 87 36 A G 2909227 323 26 GCAACAGCCGAGAGTGACAGACCTGGGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005932 3005933 3005933 upstr_intron -22 -0.446808510638298 GCAACAGCCGAGAGTGACAGACCTGGGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 1055 675 0.992069449860251 1 0.996034724930125 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA -0.00207242217308623 0.00163083838627065 0.996982479496158 0.996255516823533 NA -0.00022079189340779 NA FALSE NA 0 -0.268 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA GAG A,G 5.79e-05 17:3005933 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 intron_variant 0.04578 0.21805 0.01961 0.078448 0.31383110092355 0.046875 0.95593855271305 TRUE 5.68569e-05 ENSE00000668750_006 ENSE00000668750 006 17 2909202 2909371 + 47 87 36 C T 2909232 324 31 GCAACAGCCGAGAGTGACAGACCTGAGGTCTGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005937 3005938 3005938 upstr_intron -17 -0.340425531914894 GCAACAGCCGAGAGTGACAGACCTGAGGTCTGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 213 597 1 0.995088123783276 0.997544061891638 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 -0.00328103783045308 0.996982479496158 0.996255516823533 NA 0.00128854506810494 NA FALSE NA 0 0.119 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 rs565493881 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 5.79e-05 17:3005938 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 intron_variant -0.162159 0.17628 0.06102 0.078448 0.370569140880982 0.046875 0.95593855271305 TRUE 6.90434e-05 ENSE00000668750_007 ENSE00000668750 007 17 2909202 2909371 + 47 87 36 G A 2909233 325 32 GCAACAGCCGAGAGTGACAGACCTGAGGTCCATCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005938 3005939 3005939 upstr_intron -16 -0.319148936170213 GCAACAGCCGAGAGTGACAGACCTGAGGTCCATCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 621 629 0.992787024995235 0.998588346518125 0.99568768575668 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA -0.00135484703810196 0.000219184904395986 0.996982479496158 0.996255516823533 NA -0.000567831066852986 NA FALSE NA 0 -2.7 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 rs371742043 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 CGT G,A 0.000182 17:3005939 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 intron_variant -0.580555 0.07314 0.01396 0.078448 0.476374514103041 0.046875 0.95593855271305 TRUE 0.000113717 ENSE00000668750_008 ENSE00000668750 008 17 2909202 2909371 + 47 87 36 G T 2909238 326 37 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTTTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005943 3005944 3005944 upstr_intron -11 -0.212765957446809 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTTTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 561 247 0.99161026780415 1 0.995805133902075 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA -0.00253160422918675 0.00163083838627065 0.996982479496158 0.996255516823533 NA -0.000450382921458048 NA FALSE NA 0 -0.304 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA TGT G,T 8.272e-06 17:3005944 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 intron_variant 0.238317 0.97024 0.11505 0.078448 0.529457250024014 0.127334 0.95593855271305 TRUE 4.06128e-06 ENSE00000668750_009 ENSE00000668750 009 17 2909202 2909371 + 47 87 36 C G 2909245 327 44 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTGCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005950 3005951 3005951 upstr_intron -4 -0.0638297872340425 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTGCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 237 551 0.826676376942968 0.999930901716175 0.913303639329571 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA -0.167465495090369 0.00156174010244525 0.996982479496158 0.996255516823533 NA -0.0829518774939619 NA FALSE NA 0 -0.092 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA TCC C,G 8.272e-06 17:3005951 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 splice_region_variant 0.194393 0.87403 0.12043 0.078448 0.441789187968455 0.270333 0.95593855271305 TRUE 4.06108e-06 ENSE00000668750_010 ENSE00000668750 010 17 2909202 2909371 + 47 87 36 C T 2909246 328 45 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCTAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005951 3005952 3005952 upstr_intron -3 -0.0425531914893617 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCTAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 573 153 1 0.862684664635209 0.931342332317604 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 -0.13568449697852 0.996982479496158 0.996255516823533 NA -0.0649131845059288 NA FALSE NA 0.133 0.732 rs184413128 upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 rs184413128 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCA C,T 8.272e-06 17:3005952 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 splice_region_variant 0.790633 0.98413 0.49511 0.078448 0.747011256574021 0.802391 0.95593855271305 TRUE 2.84278e-05 ENSE00000668750_011 ENSE00000668750 011 17 2909202 2909371 + 47 87 36 C T 2909251 329 50 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGTCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005956 3005957 3005957 exon 3 0.0344827586206897 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGTCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 152 76 1 0.996937780607714 0.998468890303857 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 -0.0014313810060157 0.996982479496158 0.996255516823533 NA 0.00221337348032363 NA FALSE NA 0.009 -0.023 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 rs577878816 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCC C,T 1.654e-05 17:3005957 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 splice_region_variant 0.428494 0.9695 0.18404 0.695654 0.94494410964169 0 0.95593855271305 TRUE 8.12222e-06 ENSE00000668750_012 ENSE00000668750 012 17 2909202 2909371 + 47 87 36 C T 2909253 330 52 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCTGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005958 3005959 3005959 exon 5 0.0574712643678161 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCTGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 277 120 0.89465453856389 1 0.947327269281945 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA -0.0994873334694466 0.00163083838627065 0.996982479496158 0.996255516823533 NA -0.048928247541588 NA FALSE NA 0.011 2.014 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 rs199628910 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 8.271e-05 17:3005959 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 missense_variant 1.635053 0.947 0.3664 0.695654 0.718959280815389 0 0.95593855271305 TRUE 0.000113715 ENSE00000668750_013 ENSE00000668750 013 17 2909202 2909371 + 47 87 36 G A 2909254 331 53 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCAGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005959 3005960 3005960 exon 6 0.0689655172413793 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCAGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 573 939 0.796554526610798 0.993887647028067 0.895221086819433 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA -0.197587345422539 -0.00448151458566215 0.996982479496158 0.996255516823533 NA -0.101034430004101 NA FALSE NA 0 -6.088 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 rs202059078 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 4.135e-05 17:3005960 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 synonymous_variant -0.016305 0.06296 0.01529 0.695654 0.651151243501376 0 0.95593855271305 TRUE 3.24899e-05 ENSE00000668750_014 ENSE00000668750 014 17 2909202 2909371 + 47 87 36 C T 2909293 332 92 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCTGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3005998 3005999 3005999 exon -43 0.517241379310345 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCTGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 203 30 1 0.943330240558915 0.971665120279458 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 -0.0550389210548144 0.996982479496158 0.996255516823533 NA -0.0245903965440757 NA FALSE NA 0 -5.822 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 rs374078714 1 NA T:0 T:0.0001 CCG C,T 1.654e-05 17:3005999 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 synonymous_variant 1.463247 0.08246 0.01251 0.695654 0.815384611253715 0 0.95593855271305 TRUE 1.21831e-05 ENSE00000668750_016 ENSE00000668750 016 17 2909202 2909371 + 47 87 36 G A 2909300 334 99 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACACCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3006005 3006006 3006006 exon -36 0.597701149425287 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACACCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 148 211 1 0.99836002145571 0.999180010727855 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 -9.14015801900536e-06 0.996982479496158 0.996255516823533 NA 0.00292449390432198 NA FALSE NA 1 7.997 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 COSM1382327&COSM1382328 1 NA CGC G,A 8.27e-06 17:3006006 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 missense_variant 6.688177 0.99305 0.98673 0.695654 0.99891086876413 0 0.95593855271305 TRUE 8.12222e-06 ENSE00000668750_017 ENSE00000668750 017 17 2909202 2909371 + 47 87 36 A G 2909310 335 109 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAGGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3006015 3006016 3006016 exon -26 0.71264367816092 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAGGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 290 106 1 1 1 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 0.00163083838627065 0.996982479496158 0.996255516823533 NA 0.00374448317646681 NA FALSE NA 1 5.274 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA AAG A,G 1.654e-05 17:3006016 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 missense_variant 2.824151 0.99095 0.97113 0.695654 0.997401774533787 0 0.95593855271305 TRUE 1.62444e-05 ENSE00000668750_020 ENSE00000668750 020 17 2909202 2909371 + 47 87 36 G A 2909324 338 123 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTACAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3006029 3006030 3006030 exon -12 0.873563218390805 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTACAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 31 670 1 0.999943178773427 0.999971589386714 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 0.00157401715969807 0.996982479496158 0.996255516823533 NA 0.00371607256318052 NA FALSE NA 1 4.732 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA TGC G,A 8.27e-06 17:3006030 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 missense_variant 6.441614 0.98833 0.96314 0.695654 0.998964477218113 0 0.95593855271305 TRUE 1.21836e-05 ENSE00000668750_021 ENSE00000668750 021 17 2909202 2909371 + 47 87 36 C T 2909330 339 129 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGTTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3006035 3006036 3006036 exon -6 0.942528735632184 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGTTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 493 1158 0.992947486637698 0.997285669440383 0.995116578039041 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA -0.00119438539563943 -0.00108349217334591 0.996982479496158 0.996255516823533 NA -0.00113893878449267 NA FALSE NA 1 1.748 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 rs371614405 1 NA T:0.0005 T:0 GCT C,T 2.481e-05 17:3006036 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 synonymous_variant 0.784951 0.97283 0.88339 0.695654 0.804403582822839 0 0.95593855271305 TRUE 2.84282e-05 ENSE00000668750_022 ENSE00000668750 022 17 2909202 2909371 + 47 87 36 G A 2909338 340 137 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTAAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 3006043 3006044 3006044 downstr_intron 3 1.08571428571429 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTAAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 923 1093 0.996703343148 0.99531606583904 0.99600970449352 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00256147111466276 -0.00305309577468893 0.996982479496158 0.996255516823533 NA -0.000245812330013084 NA FALSE NA 1 1.244 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA TGA G,A 8.27e-06 17:3006044 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 splice_region_variant 1.073497 0.96805 0.48155 0.056701 0.660209072441198 0.321947 0.95593855271305 TRUE 4.06154e-06 ENSE00000668750_023 ENSE00000668750 023 17 2909202 2909371 + 47 87 36 A G 2909355 341 154 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAGGGTCTCCCTCCTGACT 3005907 3006077 3006060 3006061 3006061 downstr_intron 20 1.57142857142857 GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAGGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT mutant NA NA NA NA NA 393 842 1 0.999449201231993 0.999724600615997 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 NA NA 0.00585812796666296 0.00108003961826375 0.996982479496158 0.996255516823533 NA 0.00346908379246336 NA FALSE NA 0 -0.175 . upstream_gene_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000575979 1 NA AAG A,G 8.27e-06 17:3006061 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00003664553 intron_variant 0.138085 0.1706 0.0224 0.056701 0.278921788097006 0.0490229 0.95593855271305 TRUE 8.12506e-06 ENSE00000668750_BRK ENSE00000668750 BRK 17 2909202 2909371 + 47 87 36 A,G; T,T NA NA NA GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCTTGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGCCGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT 3005907 3006077 NA NA NA NA NA NA GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCTTGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGCCGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT GCAACAGCCGAGAGTGACAGACCTGAGGTCCGTCTTGTCTCTTCCAGGGCCCGGAATTCAGGGAGTTTCTGCTCACCAAGCTCACCAATGCCGAGAACGCCTGCTGCAAGTCGGACAAGTTTGCAAAGCTGGAGGTGAGAGTGTGGTTTCTGAAGGTCTCCCTCCTGACT control 110 92 0 0 0 NA NA NA NA NA 0.999784166724704 0.994180792267613 0.994141872033337 0.998369161613729 -0.999784166724704 -0.994180792267613 NA NA 0.996982479496158 0.996255516823533 -0.996982479496158 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003664553 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000669361_000 ENSE00000669361 000 X 47436790 47436959 - 48 63 59 NA NA NA NA NA CACCCCTGGAGGTCACCCTTTCTGCCCTGAGCATGTCTCCTCTGCCTTTTCCCCACCAGCTCAGCAGTACAACGTACCCCGTGGTTGTGAAGATGGGGCACGCACACTCTGGGATGGGCAAGGTGAGTCTCTGGCTGGGCTGTGCATAGGTAGATGTGTATTTGTGCAAT 47577390 47577560 NA NA NA NA NA NA CACCCCTGGAGGTCACCCTTTCTGCCCTGAGCATGTCTCCTCTGCCTTTTCCCCACCAGCTCAGCAGTACAACGTACCCCGTGGTTGTGAAGATGGGGCACGCACACTCTGGGATGGGCAAGGTGAGTCTCTGGCTGGGCTGTGCATAGGTAGATGTGTATTTGTGCAAT CACCCCTGGAGGTCACCCTTTCTGCCCTGAGCATGTCTCCTCTGCCTTTTCCCCACCAGCTCAGCAGTACAACGTACCCCGTGGTTGTGAAGATGGGGCACGCACACTCTGGGATGGGCAAGGTGAGTCTCTGGCTGGGCTGTGCATAGGTAGATGTGTATTTGTGCAAT natural 919 1114 0.841604465929286 0.850005046642763 0.845804756286024 791 844 0.809383243040577 0.771996851446879 0.790690047243728 0.841604465929286 0.850005046642763 0.809383243040577 0.771996851446879 0 0 0 0 0.845804756286024 0.790690047243728 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00000669361 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00000670231_000 ENSE00000670231 000 18 61029977 61030146 - 35 90 45 NA NA NA NA NA AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 NA NA NA NA NA NA AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT natural 64 44 0.999017200041857 0.988205199450042 0.99361119974595 2115 3755 0.836524885418999 0.776864638922528 0.806694762170763 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 0 0 0 0 0.99361119974595 0.806694762170763 0 0 0 FALSE FALSE NA NA NA NA NA KDSR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDSR NA NA NA ENSG00000119537 ENSE00003558843 NA NA NA NA NA NA NA 0.472000395094808 FALSE NA ENSE00000670231_001 ENSE00000670231 001 18 61029977 61030146 - 35 90 45 A G 61029997 800 150 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGCTCATTATTACTGACTTGCTT 63362743 63362913 63362763 63362764 63362764 downstr_intron 15 1.44117647058824 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGCTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 820 781 0.998890622157963 1 0.999445311078982 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.162365736738965 0.223135361077472 0.99361119974595 0.806694762170763 NA 0.192750548908218 NA FALSE NA 0 0 rs138217888 intron_variant MODIFIER KDSR HGNC 4021 ENST00000406396 2/9 rs138217888 1 G:0.0038 G:0.0144 G:0 NA G:0 G:0 G:0 G:0.0091 G:0.0001 AAC A,G 0.001021 18:63362764 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 intron_variant 0.059877 0.22625 0.07578 0.359288 0.300693273561476 0.100394 0.472000395094808 FALSE 0.000799862 ENSE00000670231_003 ENSE00000670231 003 18 61029977 61030146 - 35 90 45 C G 61029999 802 148 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTACGTTCATTATTACTGACTTGCTT 63362743 63362913 63362765 63362766 63362766 downstr_intron 13 1.38235294117647 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTACGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant 23 19 0.997192804428004 0.996411215875656 0.99680201015183 687 77 0.819685236791156 1 0.909842618395578 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 -0.00182439561385261 0.00820601642561347 -0.0168396486278429 0.223135361077472 0.99361119974595 0.806694762170763 0.00319081040588043 0.103147856224815 0.0999570458189342 FALSE FALSE 0 -0.206 rs3744939 intron_variant MODIFIER KDSR HGNC 4021 ENST00000406396 2/9 rs3744939 1 NA CCT C,G 0.0002306 18:63362766 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 intron_variant 0.171845 0.23796 0.16597 0.359288 0.411247896684003 0.100394 0.472000395094808 FALSE 0.000241431 ENSE00000670231_004 ENSE00000670231 004 18 61029977 61030146 - 35 90 45 C G 61030007 803 140 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAACGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362773 63362774 63362774 downstr_intron 5 1.14705882352941 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAACGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 51 278 1 0.999430680921146 0.999715340460573 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.163475114581001 0.222566041998619 0.99361119974595 0.806694762170763 NA 0.19302057828981 NA FALSE NA 0.994 2.51 . splice_region_variant&intron_variant LOW KDSR HGNC 4021 ENST00000406396 2/9 1 NA CCT C,G 8.236e-06 18:63362774 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 splice_region_variant 1.17135 0.63836 0.60423 0 0.678155273617812 0.942343 0.472000395094808 FALSE NA ENSE00000670231_007 ENSE00000670231 007 18 61029977 61030146 - 35 90 45 C G 61030026 806 121 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGCTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362792 63362793 63362793 exon -15 0.844444444444444 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGCTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 537 175 0.933785007880133 0.992246299534186 0.96301565370716 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.0972601224611345 0.215381660611659 0.99361119974595 0.806694762170763 NA 0.156320891536397 NA FALSE NA 1 5.507 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 2/10 rs199675364 1 tolerated(0.25) benign(0.014) NA ACC C,G 8.236e-06 18:63362793 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 missense_variant 3.678335 0.96832 0.93371 0.744818 0.995713308064901 0 0.472000395094808 FALSE 4.07083e-06 ENSE00000670231_008 ENSE00000670231 008 18 61029977 61030146 - 35 90 45 G C 61030047 807 100 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAAGAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362813 63362814 63362814 exon -36 0.611111111111111 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAAGAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 165 12 1 1 1 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.163475114581001 0.223135361077472 0.99361119974595 0.806694762170763 NA 0.193305237829237 NA FALSE NA 1 9.243 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 2/10 1 tolerated(0.15) benign(0.14) NA TGT G,C 8.236e-06 18:63362814 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 missense_variant 2.530446 0.97994 0.97588 0.744818 0.986477892455076 0 0.472000395094808 FALSE 4.06557e-06 ENSE00000670231_010 ENSE00000670231 010 18 61029977 61030146 - 35 90 45 T C 61030062 809 85 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTGTCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362828 63362829 63362829 exon 40 0.444444444444444 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTGTCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant 20 17 0.99364908290849 0.995494389510497 0.994571736209493 233 1049 0.624181980691893 0.694307607937547 0.65924479431472 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 -0.00536811713336705 0.00728919006045481 -0.212342904727105 -0.0825570309849805 0.99361119974595 0.806694762170763 0.000960536463543882 -0.147449967856043 0.148410504319587 FALSE FALSE 0.999 3.055 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 2/10 rs371383516 1 tolerated(0.12) benign(0.02) NA C:0 C:0.0001 ATA T,C 8.236e-06 18:63362829 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 missense_variant 1.210994 0.9345 0.85844 0.732398 0.94209223237169 0 0.472000395094808 FALSE 4.06372e-06 ENSE00000670231_011 ENSE00000670231 011 18 61029977 61030146 - 35 90 45 G A 61030069 810 78 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGTATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362835 63362836 63362836 exon 33 0.366666666666667 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGTATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 143 1078 0.985805916252133 0.986672668049115 0.986239292150624 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.149281030833134 0.209808029126587 0.99361119974595 0.806694762170763 NA 0.179544529979861 NA FALSE NA 0.531 -0.001 . synonymous_variant LOW KDSR HGNC 4021 ENST00000406396 2/10 1 NA TGC G,A 8.236e-06 18:63362836 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 synonymous_variant 0.984656 0.29759 0.27545 0.732398 0.465181852302889 0 0.472000395094808 FALSE 4.06534e-06 ENSE00000670231_012 ENSE00000670231 012 18 61029977 61030146 - 35 90 45 A G 61030071 811 76 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGCGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362837 63362838 63362838 exon 31 0.344444444444444 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGCGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 129 310 0.99936021005871 0.993636998208751 0.99649860413373 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.162835324639711 0.216772359286223 0.99361119974595 0.806694762170763 NA 0.189803841962967 NA FALSE NA 1 2.343 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 2/10 1 deleterious(0.02) benign(0.288) NA CAC A,G 8.236e-06 18:63362838 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 missense_variant 2.344668 0.93876 0.84493 0.732398 0.986509605046723 0 0.472000395094808 FALSE 4.0655e-06 ENSE00000670231_013 ENSE00000670231 013 18 61029977 61030146 - 35 90 45 C T 61030077 812 70 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCAGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362843 63362844 63362844 exon 25 0.277777777777778 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCAGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 221 1381 1 1 1 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.163475114581001 0.223135361077472 0.99361119974595 0.806694762170763 NA 0.193305237829237 NA FALSE NA 1 7.308 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 2/10 1 deleterious(0) probably_damaging(1) NA CCG C,T 3.295e-05 18:63362844 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 missense_variant 7.660047 0.97889 0.95716 0.732398 0.999423512039163 0 0.472000395094808 FALSE 3.25333e-05 ENSE00000670231_014 ENSE00000670231 014 18 61029977 61030146 - 35 90 45 G A 61030078 813 69 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATTGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362844 63362845 63362845 exon 24 0.266666666666667 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATTGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 427 25 0.998183178136955 0.957596888590645 0.9778900333638 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.161658292717956 0.180732249668117 0.99361119974595 0.806694762170763 NA 0.171195271193037 NA FALSE NA 0.957 0.218 . synonymous_variant LOW KDSR HGNC 4021 ENST00000406396 2/10 1 NA CGA G,A 2.471e-05 18:63362845 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 synonymous_variant 1.771455 0.90019 0.46804 0.732398 0.863524628195216 0 0.472000395094808 FALSE 1.62703e-05 ENSE00000670231_015 ENSE00000670231 015 18 61029977 61030146 - 35 90 45 C A 61030091 814 56 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGTTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362857 63362858 63362858 exon 11 0.122222222222222 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGTTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 61 114 1 1 1 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.163475114581001 0.223135361077472 0.99361119974595 0.806694762170763 NA 0.193305237829237 NA FALSE NA 1 7.308 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 2/10 1 deleterious(0) probably_damaging(1) NA ACC C,A 8.236e-06 18:63362858 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 missense_variant 7.424456 0.97955 0.96404 0.732398 0.997987869567844 0 0.472000395094808 FALSE 8.15102e-06 ENSE00000670231_016 ENSE00000670231 016 18 61029977 61030146 - 35 90 45 C G 61030094 815 53 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGCAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362860 63362861 63362861 exon 8 0.0888888888888889 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGCAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 112 891 1 0.996552719224956 0.998276359612478 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.163475114581001 0.219688080302428 0.99361119974595 0.806694762170763 NA 0.191581597441715 NA FALSE NA 1 7.308 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 2/10 1 deleterious(0.03) probably_damaging(1) NA TCC C,G 8.236e-06 18:63362861 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 missense_variant 6.301341 0.97972 0.96566 0.732398 0.998478644572768 0 0.472000395094808 FALSE 4.07634e-06 ENSE00000670231_017 ENSE00000670231 017 18 61029977 61030146 - 35 90 45 C G 61030095 816 52 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACACGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362861 63362862 63362862 exon 7 0.0777777777777778 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACACGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 1484 1146 0.998492805950532 0.999299560926286 0.998896183438409 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.161967920531533 0.222434922003759 0.99361119974595 0.806694762170763 NA 0.192201421267646 NA FALSE NA 1 7.308 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 2/10 1 deleterious(0) probably_damaging(1) NA CCT C,G 8.236e-06 18:63362862 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 missense_variant 7.196322 0.97972 0.96566 0.732398 0.999379619680191 0 0.472000395094808 FALSE 4.07704e-06 ENSE00000670231_018 ENSE00000670231 018 18 61029977 61030146 - 35 90 45 A T 61030104 817 43 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTAAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362870 63362871 63362871 upstr_intron -3 -0.0444444444444444 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTAAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 1458 244 0.999405743284891 0.999373667882424 0.999389705583657 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.162880857865893 0.222509028959896 0.99361119974595 0.806694762170763 NA 0.192694943412894 NA FALSE NA 0 -0.282 . splice_region_variant&intron_variant LOW KDSR HGNC 4021 ENST00000406396 1/9 1 NA TAA A,T 8.236e-06 18:63362871 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 splice_region_variant 1.096906 0.31121 0.20025 0.106106 0.773532601195854 0.412114 0.472000395094808 FALSE 1.23059e-05 ENSE00000670231_019 ENSE00000670231 019 18 61029977 61030146 - 35 90 45 A G 61030110 818 37 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTCTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362876 63362877 63362877 upstr_intron -9 -0.177777777777778 AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTCTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 360 24 0.866780085011316 1 0.933390042505658 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.0302551995923176 0.223135361077472 0.99361119974595 0.806694762170763 NA 0.126695280334895 NA FALSE NA 0.11 0.413 . intron_variant MODIFIER KDSR HGNC 4021 ENST00000406396 1/9 1 NA AAA A,G 8.236e-06 18:63362877 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 intron_variant 2.357202 0.25229 0.09482 0.106106 0.819618278454099 0.38489 0.472000395094808 FALSE 1.64301e-05 ENSE00000670231_020 ENSE00000670231 020 18 61029977 61030146 - 35 90 45 C A 61030114 819 33 AGGGGAGATTTCAAGTGCTAAGAATATTTTATTATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362880 63362881 63362881 upstr_intron -13 -0.266666666666667 AGGGGAGATTTCAAGTGCTAAGAATATTTTATTATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant NA NA NA NA NA 159 638 1 0.996232612656626 0.998116306328313 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 NA NA 0.163475114581001 0.219367973734099 0.99361119974595 0.806694762170763 NA 0.19142154415755 NA FALSE NA 0 -0.188 . intron_variant MODIFIER KDSR HGNC 4021 ENST00000406396 1/9 1 NA TCA C,A 3.295e-05 18:63362881 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 intron_variant 2.452358 0.15229 0.0194 0.106106 0.790930212324999 0.389414 0.472000395094808 FALSE 1.64268e-05 ENSE00000670231_021 ENSE00000670231 021 18 61029977 61030146 - 35 90 45 C T 61030132 820 15 AGGGGAGATTTCAAATGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 63362898 63362899 63362899 upstr_intron -31 -0.666666666666667 AGGGGAGATTTCAAATGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT mutant 46 27 0.966639473702563 0.949748928323975 0.958194201013269 582 1015 1 0.998943197674283 0.999471598837142 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 -0.032377726339294 -0.0384562711260669 0.163475114581001 0.222078558751756 0.99361119974595 0.806694762170763 -0.0354169987326804 0.192776836666379 0.228193835399059 FALSE FALSE 0.001 0.578 . intron_variant MODIFIER KDSR HGNC 4021 ENST00000406396 1/9 1 NA ACT C,T 1.647e-05 18:63362899 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003558843 intron_variant 0.608196 0.24478 0.15808 0.106106 0.75631934584684 0.177443 0.472000395094808 FALSE 1.68294e-05 ENSE00000670231_BRK ENSE00000670231 BRK 18 61029977 61030146 - 35 90 45 A,G; T,T NA NA NA AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTTTGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGCCAAGGCTTCTAGGTTCATTATTACTGACTTGCTT 63362743 63362913 NA NA NA NA NA NA AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTTTGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGCCAAGGCTTCTAGGTTCATTATTACTGACTTGCTT AGGGGAGATTTCAAGTGCTAAGAATATTTTATGATTTTGTTTTAGGTTACAGGAGGTTCCAGTGGCATCGGGAAGTGCATTGCTATCGAGTGCTATAAACAAGGAGCTTTTATAACTCTGGTTGCACGAAATGAGGTAAGGCTTCTAGGTTCATTATTACTGACTTGCTT control 80 133 0.0325056829214387 0.00489736596815625 0.0187015244447975 NA NA NA NA NA 0.999017200041857 0.988205199450042 0.836524885418999 0.776864638922528 -0.966511517120418 -0.983307833481886 NA NA 0.99361119974595 0.806694762170763 -0.974909675301152 NA NA NA TRUE NA NA NA NA NA KDSR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDSR NA NA NA ENSG00000119537 ENSE00003558843 NA NA NA NA NA NA NA 0.472000395094808 FALSE NA ENSE00000670418_000 ENSE00000670418 000 16 16286654 16286823 - 33 93 44 NA NA NA NA NA GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 NA NA NA NA NA NA GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG natural 217 383 0.861837316191313 0.844639542521942 0.853238429356628 474 353 0.894313156743563 0.859100126998653 0.876706641871108 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 0 0 0 0 0.853238429356628 0.876706641871108 0 0 0 FALSE FALSE NA NA NA NA NA ABCC6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC6 NA NA NA ENSG00000091262 ENSE00003618310 NA NA NA NA NA NA NA 1.4545670403957e-06 FALSE NA ENSE00000670418_001 ENSE00000670418 001 16 16286654 16286823 - 33 93 44 C T 16286664 1062 160 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACAGACCAGGCAG 16192796 16192966 16192806 16192807 16192807 downstr_intron 23 1.71875 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACAGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 93 47 0.85 0.85 0.85 NA NA NA NA NA 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913129 0.00536045747805769 NA NA 0.853238429356628 0.876706641871108 -0.0032384293566276 NA NA NA FALSE 0 -1.675 rs59683222 intron_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/15 rs59683222 1 T:0.0058 T:0.0174 T:0.0058 NA T:0 T:0.002 T:0 T:0.0162 T:0.0008 CCG C,T 0.002347 16:16192807 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 intron_variant -0.059842 0.14388 0.00738 0.053691 0.716318717134706 0.101047 1.4545670403957e-06 FALSE 0.00202079 ENSE00000670418_002 ENSE00000670418 002 16 16286654 16286823 - 33 93 44 G A 16286665 1063 159 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGATGGACCAGGCAG 16192796 16192966 16192807 16192808 16192808 downstr_intron 22 1.6875 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGATGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant NA NA NA NA NA 27 78 1 0.994966806009269 0.997483403004635 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA 0.105686843256437 0.135866679010616 0.853238429356628 0.876706641871108 NA 0.120776761133527 NA FALSE NA 0 -0.031 . intron_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/15 rs369846103 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGT G,A 2.471e-05 16:16192808 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 intron_variant 0.039975 0.19855 0.05355 0.053691 0.765151627818025 0.101047 1.4545670403957e-06 FALSE 1.63818e-05 ENSE00000670418_003 ENSE00000670418 003 16 16286654 16286823 - 33 93 44 C G 16286667 1064 157 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGCACGGACCAGGCAG 16192796 16192966 16192809 16192810 16192810 downstr_intron 20 1.625 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGCACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 26 17 0.85 0.85 0.85 NA NA NA NA NA 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913129 0.00536045747805769 NA NA 0.853238429356628 0.876706641871108 -0.0032384293566276 NA NA NA FALSE 0 -0.487 . intron_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/15 1 NA TCC C,G 1.647e-05 16:16192810 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 intron_variant 0.170555 0.23362 0.07892 0.053691 0.567725967349458 0.154149 1.4545670403957e-06 FALSE 1.63518e-05 ENSE00000670418_004 ENSE00000670418 004 16 16286654 16286823 - 33 93 44 T A 16286694 1065 130 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCTCCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192836 16192837 16192837 exon -8 0.924731182795699 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCTCCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 24 78 0.944079467603622 0.85 0.897039733801811 273 31 0.838412835276649 0.8 0.819206417638324 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 0.0822421514123094 0.00536045747805769 -0.0559003214669144 -0.0591001269986531 0.853238429356628 0.876706641871108 0.0438013044451835 -0.0575002242327837 0.101301528677967 FALSE FALSE 0.856 0.462 rs151187637 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 rs151187637 1 NA A:0 A:0.0003 GTG T,A 0.0002553 16:16192837 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 missense_variant -0.40172 0.26727 0.24448 0.497415 0.605155282799596 0 1.4545670403957e-06 FALSE 0.000248 ENSE00000670418_005 ENSE00000670418 005 16 16286654 16286823 - 33 93 44 G C 16286695 1066 129 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACGACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192837 16192838 16192838 exon -9 0.913978494623656 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACGACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 91 145 0.85 0.87562651871425 0.862813259357125 62 119 0.8 0.979069609153888 0.889534804576944 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913129 0.0309869761923078 -0.0943131567435629 0.119969482155235 0.853238429356628 0.876706641871108 0.00957483000049747 0.012828162705836 0.00325333270533856 FALSE FALSE 0.997 1.615 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 1 NA TGG G,C 8.236e-06 16:16192838 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 missense_variant -0.432142 0.27833 0.33691 0.486886 0.86592823213227 0 1.4545670403957e-06 FALSE 4.06464e-06 ENSE00000670418_008 ENSE00000670418 008 16 16286654 16286823 - 33 93 44 A G 16286716 1069 108 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCCTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192858 16192859 16192859 exon -30 0.688172043010753 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCCTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 73 84 0.85 0.85 0.85 126 198 0.8 0.8 0.8 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913128 0.00536045747805769 -0.0943131567435629 -0.0591001269986531 0.853238429356628 0.876706641871108 -0.00323842935662755 -0.076706641871108 0.0734682125144804 FALSE FALSE 0.053 -0.443 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 1 NA AAG A,G 1.647e-05 16:16192859 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 missense_variant 1.402167 0.64591 0.22775 0.486886 0.947667991920827 0 1.4545670403957e-06 FALSE 1.21874e-05 ENSE00000670418_009 ENSE00000670418 009 16 16286654 16286823 - 33 93 44 G A 16286732 1070 92 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTTCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192874 16192875 16192875 exon -46 0.516129032258065 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTTCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant NA NA NA NA NA 352 1087 0.829954106361773 0.807452565041851 0.818703335701812 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA -0.0643590503817898 -0.0516475619568016 0.853238429356628 0.876706641871108 NA -0.0580033061692957 NA FALSE NA 0.993 0.05 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 1 NA GGA G,A 8.236e-06 16:16192875 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 synonymous_variant 1.017825 0.81843 0.44389 0.486886 0.751963377910013 0 1.4545670403957e-06 FALSE 4.06197e-06 ENSE00000670418_010 ENSE00000670418 010 16 16286654 16286823 - 33 93 44 C T 16286736 1071 88 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAACCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192878 16192879 16192879 exon 44 0.473118279569892 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAACCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 77 73 0.85 0.85 0.85 NA NA NA NA NA 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.011837316191313 0.00536045747805769 NA NA 0.853238429356628 0.876706641871108 -0.00323842935662766 NA NA NA FALSE 0.998 3.889 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 1 NA GCT C,T 8.236e-06 16:16192879 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 missense_variant 4.279752 0.9475 0.78702 0.486886 0.99380184654476 0 1.4545670403957e-06 FALSE 4.06256e-06 ENSE00000670418_011 ENSE00000670418 011 16 16286654 16286823 - 33 93 44 C T 16286738 1072 86 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTAAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192880 16192881 16192881 exon 42 0.451612903225806 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTAAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant NA NA NA NA NA 228 19 0 0 0 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA -0.894313156743563 -0.859100126998653 0.853238429356628 0.876706641871108 NA -0.876706641871108 NA TRUE NA 0.744 0.662 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 1 NA TCA C,T 8.236e-06 16:16192881 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 synonymous_variant 1.617834 0.93014 0.54319 0.486886 0.797049641447921 0 1.4545670403957e-06 FALSE 4.0624e-06 ENSE00000670418_012 ENSE00000670418 012 16 16286654 16286823 - 33 93 44 G A 16286741 1073 83 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTTCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192883 16192884 16192884 exon 39 0.419354838709677 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTTCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 33 69 0.833209445193157 0.85 0.841604722596579 NA NA NA NA NA 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0286278709981558 0.00536045747805769 NA NA 0.853238429356628 0.876706641871108 -0.011633706760049 NA NA NA FALSE 0.888 1.182 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 COSM3506459 1 NA GGA G,A 8.236e-06 16:16192884 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 synonymous_variant 1.257081 0.93561 0.69303 0.486886 0.791799159263277 0 1.4545670403957e-06 FALSE NA ENSE00000670418_016 ENSE00000670418 016 16 16286654 16286823 - 33 93 44 G A 16286750 1077 74 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATTGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192892 16192893 16192893 exon 30 0.32258064516129 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATTGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 52 154 0.839386644308555 0.835626205745444 0.837506425027 12 112 0.8 0.8 0.8 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0224506718827578 -0.00901333677649807 -0.0943131567435629 -0.0591001269986531 0.853238429356628 0.876706641871108 -0.015732004329628 -0.076706641871108 0.06097463754148 FALSE FALSE 0.027 -1.186 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:16192893 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 synonymous_variant 1.207836 0.25266 0.03212 0.486886 0.670469485479086 0 1.4545670403957e-06 FALSE 0.000117833 ENSE00000670418_017 ENSE00000670418 017 16 16286654 16286823 - 33 93 44 G C 16286750 1078 74 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATGGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192892 16192893 16192893 exon 30 0.32258064516129 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATGGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 15 42 0.85 0.85 0.85 NA NA NA NA NA 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913129 0.00536045747805769 NA NA 0.853238429356628 0.876706641871108 -0.0032384293566276 NA NA NA FALSE 0.027 -1.186 NA NA NA ABCC6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC6 NA NA NA ENSG00000091262 ENSE00003618310 missense_variant 1.315975 0.26834 0.07999 0.486886 0.989195477756779 0 1.4545670403957e-06 FALSE 6.09484e-05 ENSE00000670418_018 ENSE00000670418 018 16 16286654 16286823 - 33 93 44 G A 16286757 1079 67 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCATTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192899 16192900 16192900 exon 23 0.247311827956989 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCATTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant NA NA NA NA NA 73 25 0.8 0.8 0.8 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA -0.0943131567435628 -0.0591001269986531 0.853238429356628 0.876706641871108 NA -0.0767066418711079 NA FALSE NA 1 3.92 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 rs554886514 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGT G,A 0.0004777 16:16192900 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 missense_variant 3.020516 0.93096 0.81751 0.486886 0.997904822327933 0 1.4545670403957e-06 FALSE 0.000386047 ENSE00000670418_020 ENSE00000670418 020 16 16286654 16286823 - 33 93 44 G A 16286765 1081 59 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCTGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192907 16192908 16192908 exon 15 0.161290322580645 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCTGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 46 68 0.85 0.85 0.85 479 354 0.8 0.8 0.8 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913129 0.00536045747805769 -0.0943131567435629 -0.0591001269986531 0.853238429356628 0.876706641871108 -0.0032384293566276 -0.076706641871108 0.0734682125144804 FALSE FALSE 0.491 -0.269 rs57546826 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 rs57546826 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0018 A:0.0001 CGG G,A 0.0001977 16:16192908 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 synonymous_variant 1.456304 0.85218 0.07956 0.486886 0.566647554103355 0 1.4545670403957e-06 FALSE 0.000239888 ENSE00000670418_021 ENSE00000670418 021 16 16286654 16286823 - 33 93 44 G A 16286769 1082 55 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCTCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192911 16192912 16192912 exon 11 0.118279569892473 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCTCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant NA NA NA NA NA 119 182 0.976169978332053 0.999130035100623 0.987650006716338 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA 0.0818568215884903 0.14002990810197 0.853238429356628 0.876706641871108 NA 0.11094336484523 NA FALSE NA 1 4.845 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 COSM3506460 1 NA GGG G,A 5.765e-05 16:16192912 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 missense_variant 4.323252 0.96356 0.88512 0.486886 0.998546020253674 0 1.4545670403957e-06 FALSE 4.47424e-05 ENSE00000670418_022 ENSE00000670418 022 16 16286654 16286823 - 33 93 44 C T 16286774 1083 50 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTAGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192916 16192917 16192917 exon 6 0.0645161290322581 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTAGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 282 397 0.85 0.85 0.85 NA NA NA NA NA 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913129 0.00536045747805769 NA NA 0.853238429356628 0.876706641871108 -0.0032384293566276 NA NA NA FALSE 0.02 -1.67 rs58703366 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 rs58703366 1 T:0.0198 T:0.0696 T:0.0101 NA T:0 T:0 T:0 T:0.048 T:0.0001 CCA C,T 0.004365 16:16192917 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 synonymous_variant 1.27043 0.69314 0.04557 0.486886 0.705391187960901 0 1.4545670403957e-06 FALSE 0.0036016 ENSE00000670418_023 ENSE00000670418 023 16 16286654 16286823 - 33 93 44 A C 16286775 1084 49 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCGGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192917 16192918 16192918 exon 5 0.0537634408602151 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCGGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 37 69 0.85 0.755888748851972 0.802944374425986 NA NA NA NA NA 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913129 -0.0887507936699699 NA NA 0.853238429356628 0.876706641871108 -0.0502940549306414 NA NA NA FALSE 1 7.298 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 11/16 1 NA CAG A,C 8.236e-06 16:16192918 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 missense_variant 5.810325 0.96548 0.95113 0.486886 0.997671740721765 0 1.4545670403957e-06 FALSE 4.06971e-06 ENSE00000670418_024 ENSE00000670418 024 16 16286654 16286823 - 33 93 44 G T 16286779 1085 45 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGATCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192921 16192922 16192922 exon 1 0.010752688172043 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGATCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant NA NA NA NA NA 43 63 1 1 1 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA 0.105686843256437 0.140899873001347 0.853238429356628 0.876706641871108 NA 0.123293358128892 NA FALSE NA 1 3.599 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ABCC6 HGNC 57 ENST00000574094 11/16 1 NA AGC G,T 5.765e-05 16:16192922 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 missense_variant 2.364418 0.95179 0.81149 0.486886 0.992078231668744 0 1.4545670403957e-06 FALSE 8.55216e-05 ENSE00000670418_025 ENSE00000670418 025 16 16286654 16286823 - 33 93 44 G A 16286782 1086 42 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCTAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192924 16192925 16192925 upstr_intron -3 -0.0454545454545455 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCTAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant NA NA NA NA NA 105 162 0.921564989438003 0.935786353004638 0.92867567122132 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA 0.02725183269444 0.0766862260059848 0.853238429356628 0.876706641871108 NA 0.0519690293502124 NA FALSE NA 0.999 2.399 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ABCC6 HGNC 57 ENST00000574094 10/15 1 NA TGG G,A 8.236e-06 16:16192925 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 splice_region_variant 1.497325 0.94476 0.74194 0.077785 0.804684971272809 0.387548 1.4545670403957e-06 FALSE 4.07867e-06 ENSE00000670418_026 ENSE00000670418 026 16 16286654 16286823 - 33 93 44 G T 16286785 1087 39 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATACCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192927 16192928 16192928 upstr_intron -6 -0.113636363636364 GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATACCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant NA NA NA NA NA 93 91 0 0.0181650827133763 0.00908254135668814 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA -0.894313156743563 -0.840935044285277 0.853238429356628 0.876706641871108 NA -0.86762410051442 NA TRUE NA 0.463 -0.061 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ABCC6 HGNC 57 ENST00000574094 10/15 1 NA GGA G,T 8.236e-06 16:16192928 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 splice_region_variant 0.21283 0.31624 0.11665 0.077785 0.595973463181592 0.25049 1.4545670403957e-06 FALSE NA ENSE00000670418_027 ENSE00000670418 027 16 16286654 16286823 - 33 93 44 G A 16286809 1088 15 GGGCTCCTCGGGATTTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 16192951 16192952 16192952 upstr_intron -30 -0.659090909090909 GGGCTCCTCGGGATTTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG mutant 41 50 0.85 0.85 0.85 374 147 0.965984191361582 0.968686848399103 0.967335519880343 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 -0.0118373161913129 0.00536045747805769 0.0716710346180192 0.10958672140045 0.853238429356628 0.876706641871108 -0.0032384293566276 0.0906288780092345 0.0938673073658621 FALSE FALSE 0.165 2.33 . intron_variant&non_coding_transcript_variant MODIFIER ABCC6 HGNC 57 ENST00000574094 10/15 1 NA AGA G,A 1.648e-05 16:16192952 ABCC6 HGNC Symbol protein_coding 74594 ENSG00000091262 ENSE00003618310 intron_variant 0.416872 0.47087 0.10393 0.070013 0.678536631879827 0.925784 1.4545670403957e-06 FALSE 1.66613e-05 ENSE00000670418_BRK ENSE00000670418 BRK 16 16286654 16286823 - 33 93 44 A,G; T,T NA NA NA GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCTTCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGCCTTGGCTTTTGGGAAAGGGACGGACCAGGCAG 16192796 16192966 NA NA NA NA NA NA GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCTTCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGCCTTGGCTTTTGGGAAAGGGACGGACCAGGCAG GGGCTCCTCGGGATCTCCTGACATCCTGCCCCTTCTATCCCCAGCTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTGAGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAGGTTTGGCTTTTGGGAAAGGGACGGACCAGGCAG control NA NA NA NA NA 774 66 0.00116480932434882 0 0.000582404662174408 0.861837316191313 0.844639542521942 0.894313156743563 0.859100126998653 NA NA -0.893148347419214 -0.859100126998653 0.853238429356628 0.876706641871108 NA -0.876124237208934 NA TRUE NA NA NA NA NA NA ABCC6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC6 NA NA NA ENSG00000091262 ENSE00003618310 NA NA NA NA NA NA NA 1.4545670403957e-06 FALSE NA ENSE00000670581_000 ENSE00000670581 000 X 48840155 48840324 - 32 96 42 NA NA NA NA NA ATCCTCTCCCTTCAACCCTCATGTTCCCCTACCTTCCGAGCCTCCTGTAATTCCTGGGTCAACTGCTCCTTCTCCTGCCCTATTTCTTGAAGTTGTTCCAGCAGTCGACTATTGGCCCGTAATGACTCCTAATGCAGACACCAAAGGGAAAGAGTTTGATAAAGAGCATC 48983742 48983912 NA NA NA NA NA NA GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT natural 289 325 0.848101039425007 0.836375232880462 0.842238136152734 1753 2178 0.766602977682929 0.81288529162771 0.789744134655319 0.848101039425007 0.836375232880462 0.766602977682929 0.81288529162771 0 0 0 0 0.842238136152734 0.789744134655319 0 0 0 FALSE FALSE NA NA NA NA NA GRIPAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIPAP1 NA NA NA ENSG00000068400 ENSE00003051021 NA NA NA NA NA NA NA 0.996933311471836 TRUE NA ENSE00000670581_001 ENSE00000670581 001 X 48840155 48840324 - 32 96 42 A G 48840185 479 140 ATCCTCTCCCTTCAACCCTCATGTTCCCCTGCCTTCCGAGCCTCCTGTAATTCCTGGGTCAACTGCTCCTTCTCCTGCCCTATTTCTTGAAGTTGTTCCAGCAGTCGACTATTGGCCCGTAATGACTCCTAATGCAGACACCAAAGGGAAAGAGTTTGATAAAGAGCATC 48983742 48983912 48983772 48983773 48983773 downstr_intron 2 1.06451612903226 GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGCAGGGGAACATGAGGGTTGAAGGGAGAGGAT GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT mutant NA NA NA NA NA 215 341 0 0 0 0.848101039425007 0.836375232880462 0.766602977682929 0.81288529162771 NA NA -0.766602977682929 -0.81288529162771 0.842238136152734 0.789744134655319 NA -0.789744134655319 NA TRUE NA 1 6.595 . splice_donor_variant HIGH GRIPAP1 HGNC 18706 ENST00000376423 14/19 1 NA HC TAC ,G 1.647e-05 X:48983773 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003051021 splice_donor_variant 3.41098 0.98208 0.97661 0 0.977599102396717 0.760719 0.996933311471836 TRUE 5.59419e-06 ENSE00000670581_002 ENSE00000670581 002 X 48840155 48840324 - 32 96 42 C T 48840191 480 134 ATCCTCTCCCTTCAACCCTCATGTTCCCCTACCTTCTGAGCCTCCTGTAATTCCTGGGTCAACTGCTCCTTCTCCTGCCCTATTTCTTGAAGTTGTTCCAGCAGTCGACTATTGGCCCGTAATGACTCCTAATGCAGACACCAAAGGGAAAGAGTTTGATAAAGAGCATC 48983742 48983912 48983778 48983779 48983779 exon -5 0.958333333333333 GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCAGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT mutant NA NA NA NA NA 223 651 0.781853885271742 0.801553103157064 0.791703494214403 0.848101039425007 0.836375232880462 0.766602977682929 0.81288529162771 NA NA 0.0152509075888129 -0.0113321884706459 0.842238136152734 0.789744134655319 NA 0.0019593595590835 NA FALSE NA 1 2.888 . missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 14/20 1 probably_damaging(0.996) NA CCG ,T 2.471e-05 X:48983779 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003051021 missense_variant 5.200047 0.97389 0.80171 0 0.999347006787324 0 0.996933311471836 TRUE 2.79687e-05 ENSE00000670581_004 ENSE00000670581 004 X 48840155 48840324 - 32 96 42 G A 48840192 482 133 ATCCTCTCCCTTCAACCCTCATGTTCCCCTACCTTCCAAGCCTCCTGTAATTCCTGGGTCAACTGCTCCTTCTCCTGCCCTATTTCTTGAAGTTGTTCCAGCAGTCGACTATTGGCCCGTAATGACTCCTAATGCAGACACCAAAGGGAAAGAGTTTGATAAAGAGCATC 48983742 48983912 48983779 48983780 48983780 exon -6 0.947916666666667 GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTTGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT mutant NA NA NA NA NA 170 267 0.8 0.8 0.8 0.848101039425007 0.836375232880462 0.766602977682929 0.81288529162771 NA NA 0.0333970223170711 -0.0128852916277097 0.842238136152734 0.789744134655319 NA 0.0102558653446807 NA FALSE NA 1 2.878 NA NA NA GRIPAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:48983780 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003051021 missense_variant 6.434738 0.96927 0.87714 0 0.998837826117351 0 0.996933311471836 TRUE 5.59359e-06 ENSE00000670581_010 ENSE00000670581 010 X 48840155 48840324 - 32 96 42 C T 48840256 488 69 ATCCTCTCCCTTCAACCCTCATGTTCCCCTACCTTCCGAGCCTCCTGTAATTCCTGGGTCAACTGCTCCTTCTCCTGCCCTATTTCTTGAAGTTGTTCCAGTAGTCGACTATTGGCCCGTAATGACTCCTAATGCAGACACCAAAGGGAAAGAGTTTGATAAAGAGCATC 48983742 48983912 48983843 48983844 48983844 exon 27 0.28125 GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTACTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT mutant NA NA NA NA NA 700 368 0.911194621923106 0.920120747898111 0.915657684910608 0.848101039425007 0.836375232880462 0.766602977682929 0.81288529162771 NA NA 0.144591644240177 0.107235456270401 0.842238136152734 0.789744134655319 NA 0.125913550255289 NA FALSE NA 1 0.704 . synonymous_variant LOW GRIPAP1 HGNC 18706 ENST00000376423 14/20 1 NA GCA ,T 1.647e-05 X:48983844 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003051021 synonymous_variant 0.888936 0.94598 0.75397 0 0.571753069711936 0 0.996933311471836 TRUE 1.67778e-05 ENSE00000670581_011 ENSE00000670581 011 X 48840155 48840324 - 32 96 42 T C 48840267 489 58 ATCCTCTCCCTTCAACCCTCATGTTCCCCTACCTTCCGAGCCTCCTGTAATTCCTGGGTCAACTGCTCCTTCTCCTGCCCTATTTCTTGAAGTTGTTCCAGCAGTCGACTATCGGCCCGTAATGACTCCTAATGCAGACACCAAAGGGAAAGAGTTTGATAAAGAGCATC 48983742 48983912 48983854 48983855 48983855 exon 16 0.166666666666667 GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCGATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT mutant NA NA NA NA NA 63 79 0.95 0.948028334470988 0.949014167235494 0.848101039425007 0.836375232880462 0.766602977682929 0.81288529162771 NA NA 0.183397022317071 0.135143042843278 0.842238136152734 0.789744134655319 NA 0.159270032580175 NA FALSE NA 1 5.738 . missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 14/20 1 probably_damaging(0.919) NA TTG ,C 8.237e-06 X:48983855 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003051021 missense_variant 4.066118 0.98835 0.98976 0 0.996798870077026 0 0.996933311471836 TRUE 1.11858e-05 ENSE00000670581_012 ENSE00000670581 012 X 48840155 48840324 - 32 96 42 C T 48840272 490 53 ATCCTCTCCCTTCAACCCTCATGTTCCCCTACCTTCCGAGCCTCCTGTAATTCCTGGGTCAACTGCTCCTTCTCCTGCCCTATTTCTTGAAGTTGTTCCAGCAGTCGACTATTGGCCTGTAATGACTCCTAATGCAGACACCAAAGGGAAAGAGTTTGATAAAGAGCATC 48983742 48983912 48983859 48983860 48983860 exon 11 0.114583333333333 GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACAGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT mutant NA NA NA NA NA 23 496 0 0.184982749240055 0.0924913746200275 0.848101039425007 0.836375232880462 0.766602977682929 0.81288529162771 NA NA -0.766602977682929 -0.627902542387655 0.842238136152734 0.789744134655319 NA -0.697252760035292 NA TRUE NA 0.995 3.01 rs139086270 missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 14/20 1 benign(0.108) NA CCG ,T 0.0007166 X:48983860 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003051021 missense_variant 2.953423 0.96306 0.92888 0 0.981654711428409 0 0.996933311471836 TRUE 0.000783042 ENSE00000670581_BRK ENSE00000670581 BRK X 48840155 48840324 - 32 96 42 A,G; T,T NA NA NA ATCCTCTCCCTTCAACCCTCATGTTCCCCTGGCTTCCGAGCCTCCTGTAATTCCTGGGTCAACTGCTCCTTCTCCTGCCCTATTTCTTGAAGTTGTTCCAGCAGTCGACTATTGGCCCGTAATGACTCAAAATGCAGACACCAAAGGGAAAGAGTTTGATAAAGAGCATC 48983742 48983912 NA NA NA NA NA NA GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTTTGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGCCAGGGGAACATGAGGGTTGAAGGGAGAGGAT GATGCTCTTTATCAAACTCTTTCCCTTTGGTGTCTGCATTAGGAGTCATTACGGGCCAATAGTCGACTGCTGGAACAACTTCAAGAAATAGGGCAGGAGAAGGAGCAGTTGACCCAGGAATTACAGGAGGCTCGGAAGGTAGGGGAACATGAGGGTTGAAGGGAGAGGAT control 42 43 0 0 0 345 733 0.00885003079646987 0.00841786847174821 0.00863394963410904 0.848101039425007 0.836375232880462 0.766602977682929 0.81288529162771 -0.848101039425007 -0.836375232880462 -0.757752946886459 -0.804467423155962 0.842238136152734 0.789744134655319 -0.842238136152734 -0.78111018502121 0.0611279511315238 TRUE TRUE NA NA NA NA NA GRIPAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIPAP1 NA NA NA ENSG00000068400 ENSE00003051021 NA NA NA NA NA NA NA 0.996933311471836 TRUE NA ENSE00000670691_000 ENSE00000670691 000 X 48837976 48838145 - 32 96 42 NA NA NA NA NA GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 NA NA NA NA NA NA AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC natural 44 90 0.998731025232295 0.999703204125215 0.999217114678755 1549 4168 0.993763082435268 0.822323256387779 0.908043169411524 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 0 0 0 0 0.999217114678755 0.908043169411524 0 0 0 FALSE FALSE NA NA NA NA NA GRIPAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIPAP1 NA NA NA ENSG00000068400 ENSE00003734985 NA NA NA NA NA NA NA 0.996933311471836 TRUE NA ENSE00000670691_001 ENSE00000670691 001 X 48837976 48838145 - 32 96 42 G A 48837988 458 158 GGTGTGTCTGGGACTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981575 48981576 48981576 downstr_intron 20 1.64516129032258 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGTCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 395 1723 0.966615413156947 0.999889486224077 0.983252449690512 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA -0.027147669278321 0.177566229836298 0.999217114678755 0.908043169411524 NA 0.0752092802789885 NA FALSE NA 0 -0.324 . intron_variant MODIFIER GRIPAP1 HGNC 18706 ENST00000376423 17/19 1 NA GGC G,A 8.237e-06 X:48981576 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 intron_variant 0.188711 0.14665 0.01223 0 0.53640972094615 0.0596762 0.996933311471836 TRUE NA ENSE00000670691_002 ENSE00000670691 002 X 48837976 48838145 - 32 96 42 C T 48837989 459 157 GGTGTGTCTGGGGTTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981576 48981577 48981577 downstr_intron 19 1.61290322580645 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAACCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 193 956 1 0.998837135825777 0.999418567912889 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00623691756473166 0.176513879437998 0.999217114678755 0.908043169411524 NA 0.0913753985013647 NA FALSE NA 0 -0.343 . intron_variant MODIFIER GRIPAP1 HGNC 18706 ENST00000376423 17/19 1 NA GCT C,T 8.237e-06 X:48981577 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 intron_variant 0.195595 0.17857 0.12523 0 0.525456529244349 0.0596762 0.996933311471836 TRUE 5.72217e-06 ENSE00000670691_003 ENSE00000670691 003 X 48837976 48838145 - 32 96 42 G A 48837993 460 153 GGTGTGTCTGGGGCTGTACAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981580 48981581 48981581 downstr_intron 15 1.48387096774194 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGTACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 194 599 1 0.992828550902408 0.996414275451204 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00623691756473166 0.170505294514629 0.999217114678755 0.908043169411524 NA 0.0883711060396802 NA FALSE NA 0 0.018 . intron_variant MODIFIER GRIPAP1 HGNC 18706 ENST00000376423 17/19 1 NA TGC G,A 4.118e-05 X:48981581 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 intron_variant -0.082231 0.11745 0.06498 0 0.374319547417948 0.0596762 0.996933311471836 TRUE 1.70994e-05 ENSE00000670691_004 ENSE00000670691 004 X 48837976 48838145 - 32 96 42 T C 48837997 461 149 GGTGTGTCTGGGGCTGTGCAGCGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981584 48981585 48981585 downstr_intron 11 1.35483870967742 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCGCTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 561 227 0.961628964961002 0.984405184945806 0.973017074953404 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA -0.032134117474266 0.162081928558027 0.999217114678755 0.908043169411524 NA 0.0649739055418803 NA FALSE NA 0 0.518 . intron_variant MODIFIER GRIPAP1 HGNC 18706 ENST00000376423 17/19 1 NA GTG T,C 2.471e-05 X:48981585 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 intron_variant 0.027948 0.21197 0.02326 0 0.394985717496724 0.0601907 0.996933311471836 TRUE 1.70613e-05 ENSE00000670691_006 ENSE00000670691 006 X 48837976 48838145 - 32 96 42 T C 48838009 463 137 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCCGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981596 48981597 48981597 exon -2 0.989583333333333 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCGGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 49 12 0.841924450345841 0.8 0.820962225172921 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA -0.151838632089427 -0.0223232563877793 0.999217114678755 0.908043169411524 NA -0.0870809442386031 NA FALSE NA 1 2.517 . missense_variant&splice_region_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 17/20 1 probably_damaging(0.992) NA CTG T,C 4.942e-05 X:48981597 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 missense_variant 5.881153 0.98164 0.9457 0 0.998149869734023 0 0.996933311471836 TRUE 3.95997e-05 ENSE00000670691_007 ENSE00000670691 007 X 48837976 48838145 - 32 96 42 C T 48838045 464 101 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCTGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981632 48981633 48981633 exon -38 0.614583333333333 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCAGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 194 773 1 0.999498946409456 0.999749473204728 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00623691756473166 0.177175690021677 0.999217114678755 0.908043169411524 NA 0.0917063037932043 NA FALSE NA 0.253 1.412 . missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 17/20 1 benign(0.012) NA CCG C,T 8.237e-06 X:48981633 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 missense_variant 4.695649 0.16791 0.47937 0 0.995764515923284 0 0.996933311471836 TRUE 5.6188e-06 ENSE00000670691_008 ENSE00000670691 008 X 48837976 48838145 - 32 96 42 T G 48838048 465 98 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCGCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981635 48981636 48981636 exon -41 0.583333333333333 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGCGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 83 623 1 0.996695280920688 0.998347640460344 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00623691756473166 0.174372024532908 0.999217114678755 0.908043169411524 NA 0.09030447104882 NA FALSE NA 0.223 1.162 rs35608115 missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 17/20 1 probably_damaging(0.997) NA CTC T,G 0.006326 X:48981636 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 missense_variant 2.549796 0.20466 0.28062 0 0.993403310932616 0 0.996933311471836 TRUE 0.00608331 ENSE00000670691_010 ENSE00000670691 010 X 48837976 48838145 - 32 96 42 C T 48838058 467 88 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGTCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981645 48981646 48981646 exon 46 0.479166666666667 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGACCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 2063 367 0.995311919725895 0.989273787324265 0.99229285352508 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00154883729062716 0.166950530936485 0.999217114678755 0.908043169411524 NA 0.0842496841135562 NA FALSE NA 1 1.321 rs149173903 missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 17/20 1 possibly_damaging(0.492) NA GCC C,T 3.295e-05 X:48981646 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 missense_variant 4.278854 0.9868 0.90983 0 0.995016593919783 0 0.996933311471836 TRUE 2.80683e-05 ENSE00000670691_011 ENSE00000670691 011 X 48837976 48838145 - 32 96 42 C T 48838064 468 82 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTTGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981651 48981652 48981652 exon 40 0.416666666666667 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCAAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 393 157 0.995951543464992 0.933523022368602 0.964737282916797 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00218846102972359 0.111199765980823 0.999217114678755 0.908043169411524 NA 0.0566941135052731 NA FALSE NA 1 0.534 NA NA NA GRIPAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:48981652 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 missense_variant 1.456868 0.57011 0.38414 0 0.979731356363917 0 0.996933311471836 TRUE 3.36802e-05 ENSE00000670691_014 ENSE00000670691 014 X 48837976 48838145 - 32 96 42 G A 48838076 471 70 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCATACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981663 48981664 48981664 exon 28 0.291666666666667 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTATGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 149 77 0.95450724751027 0.997940486814577 0.976223867162424 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA -0.0392558349249982 0.175617230426798 0.999217114678755 0.908043169411524 NA 0.0681806977508999 NA FALSE NA 0 0.418 . missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 17/20 1 possibly_damaging(0.814) NA CGT G,A 1.647e-05 X:48981664 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 missense_variant 5.531727 0.19872 0.03953 0 0.997755239912281 0 0.996933311471836 TRUE NA ENSE00000670691_016 ENSE00000670691 016 X 48837976 48838145 - 32 96 42 C T 48838092 473 54 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCTTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981679 48981680 48981680 exon 12 0.125 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAAGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 437 1207 0.994979981073209 1 0.997489990536604 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00121689863794028 0.177676743612221 0.999217114678755 0.908043169411524 NA 0.0894468211250805 NA FALSE NA 0.959 0.57 . synonymous_variant LOW GRIPAP1 HGNC 18706 ENST00000376423 17/20 1 NA CCT C,T 8.237e-06 X:48981680 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 synonymous_variant 1.12231 0.95409 0.75077 0 0.369781033726542 0 0.996933311471836 TRUE 5.61817e-06 ENSE00000670691_017 ENSE00000670691 017 X 48837976 48838145 - 32 96 42 C G 48838095 474 51 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCGTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981682 48981683 48981683 exon 9 0.09375 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGACGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 115 633 1 0.999750072869389 0.999875036434694 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00623691756473166 0.17742681648161 0.999217114678755 0.908043169411524 NA 0.0918318670231706 NA FALSE NA 0.055 -0.653 . missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 17/20 1 benign(0.017) NA CCT C,G 8.237e-06 X:48981683 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 missense_variant 1.171169 0.95038 0.36331 0 0.966965125458831 0 0.996933311471836 TRUE 5.62196e-06 ENSE00000670691_018 ENSE00000670691 018 X 48837976 48838145 - 32 96 42 C T 48838097 475 49 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTTCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981684 48981685 48981685 exon 7 0.0729166666666667 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGAAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 720 623 1 1 1 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00623691756473166 0.177676743612221 0.999217114678755 0.908043169411524 NA 0.0919568305884761 NA FALSE NA 1 2.88 . missense_variant MODERATE GRIPAP1 HGNC 18706 ENST00000376423 17/20 1 benign(0.366) NA TCC C,T 8.237e-06 X:48981685 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 missense_variant 3.732482 0.97097 0.95568 0 0.994613548433247 0 0.996933311471836 TRUE 5.62265e-06 ENSE00000670691_019 ENSE00000670691 019 X 48837976 48838145 - 32 96 42 G C 48838114 476 32 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCACAAAGCAGCTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981701 48981702 48981702 upstr_intron -11 -0.238095238095238 AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTGTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 371 406 1 0.999906209230029 0.999953104615014 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA 0.00623691756473166 0.177582952842249 0.999217114678755 0.908043169411524 NA 0.0919099352034905 NA FALSE NA 0.052 0.183 . intron_variant MODIFIER GRIPAP1 HGNC 18706 ENST00000376423 16/19 1 NA AGA G,C 8.237e-06 X:48981702 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 intron_variant 0.082425 0.16908 0.03367 0 0.646280760975016 0.24512 0.996933311471836 TRUE 5.66216e-06 ENSE00000670691_020 ENSE00000670691 020 X 48837976 48838145 - 32 96 42 G A 48838121 477 25 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAACTTAGGCATTGGCTTGGGAAGCCT 48981563 48981733 48981708 48981709 48981709 upstr_intron -18 -0.404761904761905 AGGCTTCCCAAGCCAATGCCTAAGTTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 100 321 0.979765556679549 0.997470789168631 0.98861817292409 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA -0.013997525755719 0.175147532780852 0.999217114678755 0.908043169411524 NA 0.0805750035125664 NA FALSE NA 0.167 1.761 . intron_variant MODIFIER GRIPAP1 HGNC 18706 ENST00000376423 16/19 1 NA AGC G,A 1.648e-05 X:48981709 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 intron_variant 0.441271 0.27443 0.3434 0 0.680521892809287 0.172157 0.996933311471836 TRUE NA ENSE00000670691_021 ENSE00000670691 021 X 48837976 48838145 - 32 96 42 C A 48838134 478 12 GGTGTGTCTGGGGCTGTGCAGTGACCACTGACCTGCTTCAGGCTGCTAATGGTCTTCAGGTGGCAGTCCCGCTCCTCCTGGGCCTGCTCGAGCTGATCCCGTACATCCTGTAGCTCCTCCTCCTTGCCCTGCAAAGCAGAAAGCAGCTTAGGCATTGGATTGGGAAGCCT 48981563 48981733 48981721 48981722 48981722 upstr_intron -31 -0.714285714285714 AGGCTTCCCAATCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC AGGCTTCCCAAGCCAATGCCTAAGCTGCTTTCTGCTTTGCAGGGCAAGGAGGAGGAGCTACAGGATGTACGGGATCAGCTCGAGCAGGCCCAGGAGGAGCGGGACTGCCACCTGAAGACCATTAGCAGCCTGAAGCAGGTCAGTGGTCACTGCACAGCCCCAGACACACC mutant NA NA NA NA NA 1126 230 0.993685211919523 0.994458746365612 0.994071979142567 0.998731025232295 0.999703204125215 0.993763082435268 0.822323256387779 NA NA -7.78705157458148e-05 0.172135489977833 0.999217114678755 0.908043169411524 NA 0.0860288097310436 NA FALSE NA 0 -0.277 . intron_variant MODIFIER GRIPAP1 HGNC 18706 ENST00000376423 16/19 1 NA GCT C,A 8.243e-06 X:48981722 GRIPAP1 HGNC Symbol protein_coding 28544 ENSG00000068400 ENSE00003734985 intron_variant 0.223185 0.14418 0.1095 0 0.580221125076888 0.149485 0.996933311471836 TRUE NA ENSE00000670821_000 ENSE00000670821 000 X 48775004 48775173 - 54 51 65 NA NA NA NA NA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA 48917726 48917896 NA NA NA NA NA NA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA natural 355 696 0.843799127701687 0.848404154119509 0.846101640910598 2896 3400 0.905146921925118 0.927585925804982 0.91636642386505 0.843799127701687 0.848404154119509 0.905146921925118 0.927585925804982 0 0 0 0 0.846101640910598 0.91636642386505 0 0 0 FALSE FALSE NA NA NA NA NA OTUD5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIM2 NA NA NA ENSG00000102096 ENSE00000670821 NA NA NA NA NA NA NA 0.894760123149801 FALSE NA ENSE00000670821_001 ENSE00000670821 001 X 48775004 48775173 - 54 51 65 A G 48775014 443 160 AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACCGATGTATTCA 48917726 48917896 48917736 48917737 48917737 downstr_intron 44 1.83018867924528 AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACCGATGTATTCA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA mutant NA NA NA NA NA 29 1614 0.954128349564087 0.923979865919714 0.9390541077419 0.843799127701687 0.848404154119509 0.905146921925118 0.927585925804982 NA NA 0.0489814276389688 -0.00360605988526863 0.846101640910598 0.91636642386505 NA 0.0226876838768501 NA FALSE NA 0.001 0.569 . downstream_gene_variant MODIFIER OTUD5 HGNC 25402 ENST00000376488 1 NA CAG A,G 8.289e-06 X:48917737 PIM2 HGNC Symbol protein_coding 5842 ENSG00000102096 ENSE00000670821 intron_variant 0.062842 0.09452 0.03365 0 0.464009919958988 0.125247 0.894760123149801 FALSE 6.91907e-06 ENSE00000670821_005 ENSE00000670821 005 X 48775004 48775173 - 54 51 65 G A 48775088 447 86 AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCTCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA 48917726 48917896 48917810 48917811 48917811 exon 21 0.411764705882353 AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCTCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA mutant NA NA NA NA NA 72 58 0.95 0.802490926347646 0.876245463173823 0.843799127701687 0.848404154119509 0.905146921925118 0.927585925804982 NA NA 0.0448530780748819 -0.125094999457336 0.846101640910598 0.91636642386505 NA -0.0401209606912272 NA FALSE NA 0.467 -0.682 . downstream_gene_variant MODIFIER OTUD5 HGNC 25402 ENST00000376488 1 NA GGG G,A 2.479e-05 X:48917811 PIM2 HGNC Symbol protein_coding 5842 ENSG00000102096 ENSE00000670821 synonymous_variant 1.077822 0.76895 0.1825 0 0.857609922822314 0 0.894760123149801 FALSE NA ENSE00000670821_007 ENSE00000670821 007 X 48775004 48775173 - 54 51 65 G A 48775135 449 39 AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGTCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA 48917726 48917896 48917857 48917858 48917858 upstr_intron -27 -0.4 AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGTCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA mutant NA NA NA NA NA 476 380 0.998957874661507 0.999799449716131 0.999378662188819 0.843799127701687 0.848404154119509 0.905146921925118 0.927585925804982 NA NA 0.0938109527363887 0.0722135239111485 0.846101640910598 0.91636642386505 NA 0.0830122383237686 NA FALSE NA 0 -0.029 . downstream_gene_variant MODIFIER OTUD5 HGNC 25402 ENST00000376488 1 NA GGC G,A 5.96e-05 X:48917858 PIM2 HGNC Symbol protein_coding 5842 ENSG00000102096 ENSE00000670821 intron_variant 0.49193 0.1742 0.03735 0 0.563461878860513 0.172031 0.894760123149801 FALSE 6.09738e-05 ENSE00000670821_008 ENSE00000670821 008 X 48775004 48775173 - 54 51 65 C T 48775140 450 34 AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTACTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA 48917726 48917896 48917862 48917863 48917863 upstr_intron -32 -0.476923076923077 AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTACTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA mutant NA NA NA NA NA 660 46 0.962594765703483 0.92307990763546 0.942837336669472 0.843799127701687 0.848404154119509 0.905146921925118 0.927585925804982 NA NA 0.057447843778365 -0.00450601816952212 0.846101640910598 0.91636642386505 NA 0.0264709128044214 NA FALSE NA 0 0.103 . downstream_gene_variant MODIFIER OTUD5 HGNC 25402 ENST00000376488 1 NA GCA C,T 3.431e-05 X:48917863 PIM2 HGNC Symbol protein_coding 5842 ENSG00000102096 ENSE00000670821 intron_variant 0.240867 0.19535 0.04434 0 0.662204162937908 0.172031 0.894760123149801 FALSE NA ENSE00000670821_BRK ENSE00000670821 BRK X 48775004 48775173 - 54 51 65 A,G; T,T NA NA NA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCTTGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGCCGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA 48917726 48917896 NA NA NA NA NA NA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCTTGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGCCGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA AGGTCTAGACTGGGAGGGGTCTGGGGATCACCTGCTGGCCTCCTTATCACGGCCTTCTTCTCCAGGTGGCCATCAAAGTGATTCCCCGGAATCGTGTGCTGGGCTGGTCCCCCTTGGTGAGTACCTTCGGAGCCCTTCCTAACCTACCTACTCCATCACTGATGTATTCA control 12 29 0 0 0 NA NA NA NA NA 0.843799127701687 0.848404154119509 0.905146921925118 0.927585925804982 -0.843799127701687 -0.848404154119509 NA NA 0.846101640910598 0.91636642386505 -0.846101640910598 NA NA NA TRUE NA NA NA NA NA OTUD5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIM2 NA NA NA ENSG00000102096 ENSE00000670821 NA NA NA NA NA NA NA 0.894760123149801 FALSE NA ENSE00000671647_000 ENSE00000671647 000 19 8005955 8006124 - 32 96 42 NA NA NA NA NA CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 NA NA NA NA NA NA CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC natural NA NA NA NA NA 65 1505 1 0.830903156998504 0.915451578499252 NA NA 1 0.830903156998504 NA NA 0 0 NA 0.915451578499252 NA 0 NA FALSE NA NA NA NA NA NA TIMM44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TIMM44 NA NA NA ENSG00000104980 ENSE00003544510 NA NA NA NA NA NA NA 0.818201941811417 FALSE NA ENSE00000671647_001 ENSE00000671647 001 19 8005955 8006124 - 32 96 42 C T 8005965 646 160 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGAGCCAGCAGAC 7941069 7941239 7941079 7941080 7941080 downstr_intron 22 1.70967741935484 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGAGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 1134 1400 0.999235397501424 0.999887017700677 0.999561207601051 NA NA 1 0.830903156998504 NA NA -0.000764602498576017 0.168983860702173 NA 0.915451578499252 NA 0.0841096291017987 NA FALSE NA 0 -0.251 . intron_variant MODIFIER TIMM44 HGNC 17316 ENST00000270538 2/12 1 NA CCC C,T 8.236e-06 19:7941080 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 intron_variant 0.380006 0.14939 0.00997 0.283894 0.736425730342807 0.0509192 0.818201941811417 FALSE 4.0625e-06 ENSE00000671647_002 ENSE00000671647 002 19 8005955 8006124 - 32 96 42 C T 8005966 647 159 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCAGGCCAGCAGAC 7941069 7941239 7941080 7941081 7941081 downstr_intron 21 1.67741935483871 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCAGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 49 395 1 1 1 NA NA 1 0.830903156998504 NA NA 0 0.169096843001496 NA 0.915451578499252 NA 0.084548421500748 NA FALSE NA 0 -0.924 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:7941081 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 intron_variant -0.049991 0.10241 0.01431 0.283894 0.815539193396516 0.0509192 0.818201941811417 FALSE 1.21867e-05 ENSE00000671647_003 ENSE00000671647 003 19 8005955 8006124 - 32 96 42 C G 8005966 648 159 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCCGGCCAGCAGAC 7941069 7941239 7941080 7941081 7941081 downstr_intron 21 1.67741935483871 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCCGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 166 201 1 1 1 NA NA 1 0.830903156998504 NA NA 0 0.169096843001496 NA 0.915451578499252 NA 0.084548421500748 NA FALSE NA 0 -0.924 NA NA NA TIMM44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TIMM44 NA NA NA ENSG00000104980 ENSE00003544510 intron_variant -0.210645 0.1042 0.07382 0.283894 0.657521165085273 0.0509192 0.818201941811417 FALSE 4.06223e-06 ENSE00000671647_009 ENSE00000671647 009 19 8005955 8006124 - 32 96 42 C T 8005987 654 138 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTAGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941101 7941102 7941102 exon -1 1 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTAGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant 50 16 0.85 0.85 0.85 NA NA NA NA NA NA NA 1 0.830903156998504 NA NA NA NA NA 0.915451578499252 NA NA NA NA NA 1 3.343 rs140191882 splice_region_variant&synonymous_variant LOW TIMM44 HGNC 17316 ENST00000270538 2/13 rs140191882 1 NA T:0 T:0.0001 CCA C,T 8.237e-06 19:7941102 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 splice_region_variant 1.713113 0.92898 0.8325 0.706548 0.900305451991375 0 0.818201941811417 FALSE 4.06987e-06 ENSE00000671647_013 ENSE00000671647 013 19 8005955 8006124 - 32 96 42 G A 8006006 658 119 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCTGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941120 7941121 7941121 exon -20 0.802083333333333 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCTGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 69 277 1 1 1 NA NA 1 0.830903156998504 NA NA 0 0.169096843001496 NA 0.915451578499252 NA 0.084548421500748 NA FALSE NA 0.644 2.769 . missense_variant MODERATE TIMM44 HGNC 17316 ENST00000270538 2/13 rs200079111 1 tolerated(0.68) benign(0.221) NA A:0.0002 A:0 CGG G,A 2.471e-05 19:7941121 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 missense_variant 1.728716 0.32999 0.52307 0.732398 0.825514007512185 0 0.818201941811417 FALSE 3.25108e-05 ENSE00000671647_018 ENSE00000671647 018 19 8005955 8006124 - 32 96 42 C T 8006012 663 113 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCACCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941126 7941127 7941127 exon -26 0.739583333333333 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCACCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 65 40 1 0.996025419298962 0.998012709649481 NA NA 1 0.830903156998504 NA NA 0 0.165122262300459 NA 0.915451578499252 NA 0.0825611311502293 NA FALSE NA 0 -0.419 . missense_variant MODERATE TIMM44 HGNC 17316 ENST00000270538 2/13 1 tolerated(0.56) benign(0.001) NA GCG C,T 3.295e-05 19:7941127 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 missense_variant 0.57581 0.19083 0.08033 0.732398 0.593495828343496 0 0.818201941811417 FALSE 3.24863e-05 ENSE00000671647_019 ENSE00000671647 019 19 8005955 8006124 - 32 96 42 G A 8006013 664 112 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGTGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941127 7941128 7941128 exon -27 0.729166666666667 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGTGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 453 32 0.995572749673864 1 0.997786374836932 NA NA 1 0.830903156998504 NA NA -0.00442725032613589 0.169096843001496 NA 0.915451578499252 NA 0.0823347963376801 NA FALSE NA 0 -1.364 . missense_variant MODERATE TIMM44 HGNC 17316 ENST00000270538 2/13 1 tolerated(0.2) benign(0) NA CGC G,A 2.471e-05 19:7941128 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 missense_variant -0.293225 0.12247 0.03658 0.732398 0.80955355389394 0 0.818201941811417 FALSE 1.62431e-05 ENSE00000671647_020 ENSE00000671647 020 19 8005955 8006124 - 32 96 42 T C 8006021 665 104 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTGTCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941135 7941136 7941136 exon -35 0.645833333333333 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTGTCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 115 45 1 0.988190962139125 0.994095481069562 NA NA 1 0.830903156998504 NA NA 0 0.157287805140621 NA 0.915451578499252 NA 0.0786439025703103 NA FALSE NA 0.998 0.811 . missense_variant MODERATE TIMM44 HGNC 17316 ENST00000270538 2/13 1 tolerated(0.06) benign(0.001) NA ATA T,C 1.647e-05 19:7941136 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 missense_variant 1.391175 0.56621 0.56673 0.732398 0.993303055512522 0 0.818201941811417 FALSE 8.1211e-06 ENSE00000671647_025 ENSE00000671647 025 19 8005955 8006124 - 32 96 42 T A 8006033 670 92 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCTTGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941147 7941148 7941148 exon -47 0.520833333333333 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCTTGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 25 20 1 1 1 NA NA 1 0.830903156998504 NA NA 0 0.169096843001496 NA 0.915451578499252 NA 0.084548421500748 NA FALSE NA 0 -0.402 . missense_variant MODERATE TIMM44 HGNC 17316 ENST00000270538 2/13 rs374638647 1 tolerated(0.65) benign(0.001) NA A:0 A:0.0001 ATG T,A 8.236e-06 19:7941148 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 missense_variant -0.85429 0.18827 0.09932 0.732398 0.398794485639404 0 0.818201941811417 FALSE 4.06055e-06 ENSE00000671647_033 ENSE00000671647 033 19 8005955 8006124 - 32 96 42 T C 8006070 678 55 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCGGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941184 7941185 7941185 exon 13 0.135416666666667 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCGGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 37 11 0.951039577209332 1 0.975519788604666 NA NA 1 0.830903156998504 NA NA -0.0489604227906681 0.169096843001496 NA 0.915451578499252 NA 0.060068210105414 NA FALSE NA 0.002 0.184 rs149700042 missense_variant MODERATE TIMM44 HGNC 17316 ENST00000270538 2/13 rs149700042 1 tolerated_low_confidence(0.4) benign(0) NA C:0.0002 C:0.001 CTG T,C 0.0005601 19:7941185 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 missense_variant -1.37254 0.2001 0.1158 0.732398 0.590451061223032 0 0.818201941811417 FALSE 0.000580673 ENSE00000671647_035 ENSE00000671647 035 19 8005955 8006124 - 32 96 42 G A 8006074 680 51 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTTGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941188 7941189 7941189 exon 9 0.09375 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTTGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 228 238 1 0.999334912846071 0.999667456423035 NA NA 1 0.830903156998504 NA NA 0 0.168431755847567 NA 0.915451578499252 NA 0.0842158779237833 NA FALSE NA 0.001 -0.673 rs145451928 synonymous_variant LOW TIMM44 HGNC 17316 ENST00000270538 2/13 rs145451928 1 NA A:0.0002 A:0 CGA G,A 2.471e-05 19:7941189 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 synonymous_variant 0.262907 0.12427 0.03278 0.732398 0.464742520575309 0 0.818201941811417 FALSE 1.21821e-05 ENSE00000671647_038 ENSE00000671647 038 19 8005955 8006124 - 32 96 42 G C 8006090 683 35 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCGCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941204 7941205 7941205 upstr_intron -8 -0.166666666666667 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCGCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 193 61 1 1 1 NA NA 1 0.830903156998504 NA NA 0 0.169096843001496 NA 0.915451578499252 NA 0.084548421500748 NA FALSE NA 0.003 -0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:7941205 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 splice_region_variant -0.305672 0.19571 0.1182 0.075938 0.411709046019671 0.181112 0.818201941811417 FALSE 0.000158372 ENSE00000671647_039 ENSE00000671647 039 19 8005955 8006124 - 32 96 42 G T 8006090 684 35 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCACAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941204 7941205 7941205 upstr_intron -8 -0.166666666666667 CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCACAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 24 130 1 0.926591162232989 0.963295581116495 NA NA 1 0.830903156998504 NA NA 0 0.0956880052344855 NA 0.915451578499252 NA 0.0478440026172428 NA FALSE NA 0.003 -0.08 NA NA NA TIMM44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TIMM44 NA NA NA ENSG00000104980 ENSE00003544510 splice_region_variant -0.180083 0.19898 0.11167 0.075938 0.400203146333053 0.181112 0.818201941811417 FALSE 0.000259892 ENSE00000671647_042 ENSE00000671647 042 19 8005955 8006124 - 32 96 42 G T 8006094 687 31 CTCTTGTTAGAATGGATCTTTCTCTTCTCTACCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941208 7941209 7941209 upstr_intron -12 -0.261904761904762 CTCTTGTTAGAATGGATCTTTCTCTTCTCTACCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 190 745 1 0.999787656362916 0.999893828181458 NA NA 1 0.830903156998504 NA NA 0 0.168884499364412 NA 0.915451578499252 NA 0.0844422496822062 NA FALSE NA 0 -0.777 . intron_variant MODIFIER TIMM44 HGNC 17316 ENST00000270538 1/12 1 NA GGA G,T 8.236e-06 19:7941209 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 intron_variant -0.748387 0.12546 0.07449 0.075938 0.365621934727128 0.16617 0.818201941811417 FALSE NA ENSE00000671647_044 ENSE00000671647 044 19 8005955 8006124 - 32 96 42 A G 8006105 689 20 CTCTTGTTAGAATGGATCTCTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC 7941069 7941239 7941219 7941220 7941220 upstr_intron -23 -0.523809523809524 CTCTTGTTAGAATGGATCTCTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC CTCTTGTTAGAATGGATCTTTCTCTTCTCTCCCCCCAATTAGAGATGCCTCGGCAGTGGAATCCAATTTCTTTCCAGCCACAACCTACCCCATGGGTCGACCTATCAGATGCGCCGGCCGGGCGGAGAGCTGCCACTGGTGAGTGACTCAGGATGCTCGGGCCAGCAGAC mutant NA NA NA NA NA 191 368 1 1 1 NA NA 1 0.830903156998504 NA NA 0 0.169096843001496 NA 0.915451578499252 NA 0.084548421500748 NA FALSE NA 0.094 1.667 . intron_variant MODIFIER TIMM44 HGNC 17316 ENST00000270538 1/12 1 NA AAA A,G 8.236e-06 19:7941220 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003544510 intron_variant 0.348392 0.2064 0.16264 0.075938 0.576966179177072 0.181269 0.818201941811417 FALSE 4.06134e-06 ENSE00000671682_000 ENSE00000671682 000 19 8321458 8321627 + 44 93 33 NA NA NA NA NA GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 NA NA NA NA NA NA GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC natural 175 419 0.85 0.836788314254015 0.843394157127007 1221 1182 0.85269369128682 0.851663924415524 0.852178807851172 0.85 0.836788314254015 0.85269369128682 0.851663924415524 0 0 0 0 0.843394157127007 0.852178807851172 0 0 0 FALSE FALSE NA NA NA NA NA CERS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS4 NA NA NA ENSG00000090661 ENSE00003700132 NA NA NA NA NA NA NA 2.04162899798769e-13 FALSE NA ENSE00000671682_004 ENSE00000671682 004 19 8321458 8321627 + 44 93 33 C T 8321493 725 36 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCTTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256608 8256609 8256609 upstr_intron -9 -0.181818181818182 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCTTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant NA NA NA NA NA 54 2158 0.997149928112177 0.990921782682528 0.994035855397353 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA 0.144456236825357 0.139257858267004 0.843394157127007 0.852178807851172 NA 0.141857047546181 NA FALSE NA 0 -0.086 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA CCT C,T 8.236e-06 19:8256609 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 intron_variant 0.283439 0.1853 0.01252 0.256867 0.428362075651304 0.0898201 2.04162899798769e-13 FALSE 8.29504e-06 ENSE00000671682_005 ENSE00000671682 005 19 8321458 8321627 + 44 93 33 T A 8321497 726 40 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCAGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256612 8256613 8256613 upstr_intron -5 -0.0909090909090909 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCAGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant NA NA NA NA NA 129 1111 0 0.0082539164132657 0.00412695820663285 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA -0.85269369128682 -0.843410008002258 0.843394157127007 0.852178807851172 NA -0.848051849644539 NA TRUE NA 0 -0.225 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 rs199930954 1 A:0.0012 A:0 A:0.0014 NA A:0 A:0.004 A:0.001 A:0.0011 A:0.0047 CTG T,A 0.002809 19:8256613 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 splice_region_variant 0.102816 0.28515 0.0374 0.256867 0.493956638280331 0.0943303 2.04162899798769e-13 FALSE 0.00284779 ENSE00000671682_006 ENSE00000671682 006 19 8321458 8321627 + 44 93 33 G A 8321519 727 62 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTATACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256634 8256635 8256635 exon 18 0.193548387096774 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTATACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant NA NA NA NA NA 71 125 0 0 0 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA -0.85269369128682 -0.851663924415524 0.843394157127007 0.852178807851172 NA -0.852178807851172 NA TRUE NA 0.977 0.801 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA TGT G,A 8.236e-06 19:8256635 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 synonymous_variant 0.558849 0.9677 0.80476 0.67177 0.527306807096189 0 2.04162899798769e-13 FALSE 4.07611e-06 ENSE00000671682_007 ENSE00000671682 007 19 8321458 8321627 + 44 93 33 T C 8321520 728 63 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGCACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256635 8256636 8256636 exon 19 0.204301075268817 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGCACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant NA NA NA NA NA 415 115 0.820341177437776 0.8 0.810170588718888 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA -0.0323525138490438 -0.051663924415524 0.843394157127007 0.852178807851172 NA -0.0420082191322839 NA FALSE NA 1 3.084 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA GTA T,C 1.647e-05 19:8256636 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 missense_variant 4.588763 0.97818 0.88743 0.67177 0.992200994581907 0 2.04162899798769e-13 FALSE 4.07581e-06 ENSE00000671682_008 ENSE00000671682 008 19 8321458 8321627 + 44 93 33 G A 8321544 729 87 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGAGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256659 8256660 8256660 exon 43 0.462365591397849 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGAGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant NA NA NA NA NA 428 139 0.913236299252832 0.984913613567953 0.949074956410393 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA 0.0605426079660122 0.133249689152429 0.843394157127007 0.852178807851172 NA 0.0968961485592207 NA FALSE NA 1 0.667 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA GGG G,A 8.236e-06 19:8256660 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 missense_variant -0.024661 0.96751 0.45729 0.67177 0.135013646486734 0 2.04162899798769e-13 FALSE 4.06636e-06 ENSE00000671682_009 ENSE00000671682 009 19 8321458 8321627 + 44 93 33 C G 8321549 730 92 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTGTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256664 8256665 8256665 exon -46 0.516129032258065 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTGTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant NA NA NA NA NA 99 134 0 0 0 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA -0.85269369128682 -0.851663924415524 0.843394157127007 0.852178807851172 NA -0.852178807851172 NA TRUE NA 1 1.763 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA TCT C,G 8.236e-06 19:8256665 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 missense_variant 5.413504 0.97716 0.92595 0.67177 0.998234689839827 0 2.04162899798769e-13 FALSE NA ENSE00000671682_014 ENSE00000671682 014 19 8321458 8321627 + 44 93 33 C G 8321575 735 118 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCGCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256690 8256691 8256691 exon -20 0.795698924731183 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCGCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 27 51 0 0 0 NA NA NA NA NA 0.85 0.836788314254015 0.85269369128682 0.851663924415524 -0.85 -0.836788314254015 NA NA 0.843394157127007 0.852178807851172 -0.843394157127007 NA NA NA TRUE 0.114 3.739 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA CCC C,G 8.236e-06 19:8256691 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 missense_variant 6.02038 0.98875 0.89056 0.67177 0.994995191073795 0 2.04162899798769e-13 FALSE NA ENSE00000671682_015 ENSE00000671682 015 19 8321458 8321627 + 44 93 33 C T 8321576 736 119 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCTTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256691 8256692 8256692 exon -19 0.806451612903226 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCTTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 19 43 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.836788314254015 0.85269369128682 0.851663924415524 0 0.0132116857459853 NA NA 0.843394157127007 0.852178807851172 0.00660584287299265 NA NA NA FALSE 0 -0.359 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA CCT C,T 8.236e-06 19:8256692 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 synonymous_variant 1.765918 0.96048 0.12434 0.67177 0.688223514235532 0 2.04162899798769e-13 FALSE 4.07269e-06 ENSE00000671682_017 ENSE00000671682 017 19 8321458 8321627 + 44 93 33 C T 8321589 738 132 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGTGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256704 8256705 8256705 exon -6 0.946236559139785 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGTGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 23 22 0.85 0.85 0.85 56 442 0.0166169131337224 0.078063597913422 0.0473402555235722 0.85 0.836788314254015 0.85269369128682 0.851663924415524 0 0.0132116857459853 -0.836076778153097 -0.773600326502102 0.843394157127007 0.852178807851172 0.00660584287299265 -0.8048385523276 0.811444395200593 TRUE FALSE 0.978 0.782 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA GCG C,T 8.236e-06 19:8256705 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 missense_variant 7.696014 0.97792 0.88746 0.67177 0.999088318422826 0 2.04162899798769e-13 FALSE 4.08657e-06 ENSE00000671682_019 ENSE00000671682 019 19 8321458 8321627 + 44 93 33 G A 8321594 740 137 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAAGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256709 8256710 8256710 exon -1 1 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAAGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 80 34 0 0 0 NA NA NA NA NA 0.85 0.836788314254015 0.85269369128682 0.851663924415524 -0.85 -0.836788314254015 NA NA 0.843394157127007 0.852178807851172 -0.843394157127007 NA NA NA TRUE 1 1.599 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 rs376322955 1 NA A:0 A:0.0001 AGG G,A 1.647e-05 19:8256710 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 splice_region_variant 1.921029 0.97494 0.85635 0.67177 0.888008056018191 0 2.04162899798769e-13 FALSE 8.19706e-06 ENSE00000671682_020 ENSE00000671682 020 19 8321458 8321627 + 44 93 33 G T 8321595 741 138 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGTTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256710 8256711 8256711 downstr_intron 1 1.03125 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGTTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 43 13 0 0 0 296 400 0.00101495644853411 0 0.000507478224267053 0.85 0.836788314254015 0.85269369128682 0.851663924415524 -0.85 -0.836788314254015 -0.851678734838286 -0.851663924415524 0.843394157127007 0.852178807851172 -0.843394157127007 -0.851671329626905 0.00827717249989757 TRUE TRUE 1 8.113 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA GGT G,T 1.647e-05 19:8256711 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 splice_donor_variant 4.848249 0.99422 0.98843 0.283894 0.994931350610315 0.956174 2.04162899798769e-13 FALSE 8.20042e-06 ENSE00000671682_021 ENSE00000671682 021 19 8321458 8321627 + 44 93 33 G A 8321597 742 140 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTAAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256712 8256713 8256713 downstr_intron 3 1.09375 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTAAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant NA NA NA NA NA 982 137 0.923955639762296 1 0.961977819881148 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA 0.0712619484754758 0.148336075584476 0.843394157127007 0.852178807851172 NA 0.109799012029976 NA FALSE NA 1 1.33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:8256713 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 splice_region_variant 1.277872 0.96879 0.83615 0.075938 0.759938106059128 0.241167 2.04162899798769e-13 FALSE 3.69786e-05 ENSE00000671682_022 ENSE00000671682 022 19 8321458 8321627 + 44 93 33 G C 8321597 743 140 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTCAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256712 8256713 8256713 downstr_intron 3 1.09375 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTCAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant NA NA NA NA NA 78 685 0 0.115250860922551 0.0576254304612754 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA -0.85269369128682 -0.736413063492973 0.843394157127007 0.852178807851172 NA -0.794553377389897 NA TRUE NA 1 1.33 NA NA NA CERS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS4 NA NA NA ENSG00000090661 ENSE00003700132 splice_region_variant 1.075082 0.97625 0.92485 0.075938 0.861366266845381 0.241167 2.04162899798769e-13 FALSE 4.10873e-06 ENSE00000671682_023 ENSE00000671682 023 19 8321458 8321627 + 44 93 33 G A 8321600 744 143 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGACCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256715 8256716 8256716 downstr_intron 6 1.1875 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGACCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 29 16 0.85 0.85 0.85 19 351 0.88944464341124 0.794729957286478 0.842087300348859 0.85 0.836788314254015 0.85269369128682 0.851663924415524 0 0.0132116857459853 0.03675095212442 -0.0569339671290457 0.843394157127007 0.852178807851172 0.00660584287299265 -0.0100915075023129 0.0166973503753055 FALSE FALSE 0.025 0.639 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 rs560611111 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGC G,A 0.0001235 19:8256716 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 splice_region_variant 0.671541 0.19634 0.12593 0.075938 0.53635756781359 0.160529 2.04162899798769e-13 FALSE 8.64575e-05 ENSE00000671682_024 ENSE00000671682 024 19 8321458 8321627 + 44 93 33 A T 8321605 745 148 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAATTAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256720 8256721 8256721 downstr_intron 11 1.34375 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAATTAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 50 51 0.85 0.85 0.85 836 450 0.798606395978966 0.805056804046031 0.801831600012498 0.85 0.836788314254015 0.85269369128682 0.851663924415524 0 0.0132116857459854 -0.0540872953078543 -0.0466071203694932 0.843394157127007 0.852178807851172 0.00660584287299271 -0.0503472078386737 0.0569530507116665 FALSE FALSE 0 0.589 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:8256721 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 intron_variant -0.240686 0.17904 0.02714 0.075938 0.413811616647989 0.0701233 2.04162899798769e-13 FALSE 5.7772e-05 ENSE00000671682_025 ENSE00000671682 025 19 8321458 8321627 + 44 93 33 A G 8321605 746 148 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAGTAAGAGTCTGGAAGACCCAGTC 8256573 8256743 8256720 8256721 8256721 downstr_intron 11 1.34375 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAGTAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 37 69 0.835042232431021 0.85 0.842521116215511 19 118 0.696711970158952 0.8 0.748355985079476 0.85 0.836788314254015 0.85269369128682 0.851663924415524 -0.0149577675689786 0.0132116857459853 -0.155981721127868 -0.051663924415524 0.843394157127007 0.852178807851172 -0.000873040911496648 -0.103822822771696 0.102949781860199 FALSE FALSE 0 0.589 NA NA NA CERS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS4 NA NA NA ENSG00000090661 ENSE00003700132 intron_variant -0.077331 0.12278 0.00189 0.075938 0.369868366983269 0.0701233 2.04162899798769e-13 FALSE 8.25314e-06 ENSE00000671682_026 ENSE00000671682 026 19 8321458 8321627 + 44 93 33 G C 8321611 747 154 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGACTCTGGAAGACCCAGTC 8256573 8256743 8256726 8256727 8256727 downstr_intron 17 1.53125 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGACTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 14 18 0.85 0.85 0.85 152 223 0.8 0.801132834778655 0.800566417389328 0.85 0.836788314254015 0.85269369128682 0.851663924415524 0 0.0132116857459853 -0.0526936912868199 -0.0505310896368686 0.843394157127007 0.852178807851172 0.00660584287299265 -0.0516123904618442 0.0582182333348369 FALSE FALSE 0 -0.412 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA AGT G,C 8.237e-06 19:8256727 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 intron_variant -0.657317 0.11921 0.0363 0.075938 0.301753936587564 0.0613338 2.04162899798769e-13 FALSE 4.16604e-06 ENSE00000671682_027 ENSE00000671682 027 19 8321458 8321627 + 44 93 33 C A 8321613 748 156 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTATGGAAGACCCAGTC 8256573 8256743 8256728 8256729 8256729 downstr_intron 19 1.59375 GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTATGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC mutant 18 48 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.836788314254015 0.85269369128682 0.851663924415524 0 0.0132116857459853 NA NA 0.843394157127007 0.852178807851172 0.00660584287299265 NA NA NA FALSE 0 0.109 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA TCT C,A 8.237e-06 19:8256729 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003700132 intron_variant 0.230529 0.27326 0.08473 0.067858 0.329040943427743 0.0613338 2.04162899798769e-13 FALSE 8.38617e-06 ENSE00000671682_BRK ENSE00000671682 BRK 19 8321458 8321627 + 44 93 33 A,G; T,T NA NA NA GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCTTACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGCCGAGGCCAAATAAGAGTCTGGAAGACCCAGTC 8256573 8256743 NA NA NA NA NA NA GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCTTACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGCCGAGGCCAAATAAGAGTCTGGAAGACCCAGTC GAGCCTTCGCTCCCCACAGCTAACCTTGTCCTGTCCTGCTGCAGACTCTGAAGCCATCCCTGTACTGGTGGTACCTCTTGGAGCTGGGTTTCTACCTCTCACTGCTAATCAGGCTGCCCTTTGATGTCAAGCGCAAGGTGAGGCCAAATAAGAGTCTGGAAGACCCAGTC control NA NA NA NA NA 146 414 0 0 0 0.85 0.836788314254015 0.85269369128682 0.851663924415524 NA NA -0.85269369128682 -0.851663924415524 0.843394157127007 0.852178807851172 NA -0.852178807851172 NA TRUE NA NA NA NA NA NA CERS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS4 NA NA NA ENSG00000090661 ENSE00003700132 NA NA NA NA NA NA NA 2.04162899798769e-13 FALSE NA ENSE00000672183_000 ENSE00000672183 000 X 69645842 69646011 + 60 60 50 NA NA NA NA NA ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC 70425991 70426161 NA NA NA NA NA NA ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC natural 66 30 0.983146805807265 0.997864193424246 0.990505499615756 1100 359 0.787206008114226 0.877389211462593 0.832297609788409 0.983146805807265 0.997864193424246 0.787206008114226 0.877389211462593 0 0 0 0 0.990505499615756 0.832297609788409 0 0 0 FALSE FALSE NA NA NA NA NA GDPD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GDPD2 NA NA NA ENSG00000130055 ENSE00003605088 NA NA NA NA NA NA NA 0.116236323908697 FALSE NA ENSE00000672183_002 ENSE00000672183 002 X 69645842 69646011 + 60 60 50 A G 69645875 630 34 ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCGTAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC 70425991 70426161 70426024 70426025 70426025 upstr_intron -27 -0.433333333333333 ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCGTAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC mutant NA NA NA NA NA 173 18 0.993740419224077 1 0.996870209612038 0.983146805807265 0.997864193424246 0.787206008114226 0.877389211462593 NA NA 0.206534411109851 0.122610788537407 0.990505499615756 0.832297609788409 NA 0.164572599823629 NA FALSE NA 0 0.253 . intron_variant MODIFIER GDPD2 HGNC 25974 ENST00000536730 3/14 1 NA CAT A,G 4.118e-05 X:70426025 GDPD2 HGNC Symbol protein_coding 10359 ENSG00000130055 ENSE00003605088 intron_variant -0.129909 0.1745 0.04038 0 0.395254743723121 0.0961991 0.116236323908697 FALSE 1.12457e-05 ENSE00000672183_009 ENSE00000672183 009 X 69645842 69646011 + 60 60 50 G T 69645946 637 105 ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTTCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC 70425991 70426161 70426095 70426096 70426096 exon -16 0.75 ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTTCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC mutant NA NA NA NA NA 125 19 1 0.95 0.975 0.983146805807265 0.997864193424246 0.787206008114226 0.877389211462593 NA NA 0.212793991885774 0.0726107885374068 0.990505499615756 0.832297609788409 NA 0.14270239021159 NA FALSE NA 0.74 -1.067 . synonymous_variant LOW GDPD2 HGNC 25974 ENST00000536730 4/15 rs376815902 1 NA T:0.0003 T:0 TGC G,T 1.647e-05 X:70426096 GDPD2 HGNC Symbol protein_coding 10359 ENSG00000130055 ENSE00003605088 synonymous_variant 0.601164 0.93752 0.1076 0 0.799617259599832 0 0.116236323908697 FALSE 1.68167e-05 ENSE00000672183_BRK ENSE00000672183 BRK X 69645842 69646011 + 60 60 50 A,G; T,T NA NA NA ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTTTGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGCCACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC 70425991 70426161 NA NA NA NA NA NA ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTTTGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGCCACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC ACCTCAGTAACCTTGCTCCCCTCTTGGCACCCCATAAGTCCCACTGCTCTCTTCCTCTAGGTCCTGGCCCTGCTCCTGCGGCTTTGTAGACAGCCCCTGCATCTGCACAGCCTCCACAAGGTACAGTAGGGATGGGAGTGCATGGGAGAGGGGGCCACTGGGCTCAGCAC control 33 19 0 0 0 NA NA NA NA NA 0.983146805807265 0.997864193424246 0.787206008114226 0.877389211462593 -0.983146805807265 -0.997864193424246 NA NA 0.990505499615756 0.832297609788409 -0.990505499615756 NA NA NA TRUE NA NA NA NA NA GDPD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GDPD2 NA NA NA ENSG00000130055 ENSE00003605088 NA NA NA NA NA NA NA 0.116236323908697 FALSE NA ENSE00000672288_000 ENSE00000672288 000 X 69508242 69508411 - 38 84 48 NA NA NA NA NA GGATGAATCTAGCCTGAAATAAGGTTTCATAAGTTCACCTGAGCTCCAGGAGGCTTCTTCAGTGTGATGGTTCGGGGCAGAAACTGGGTCAACTCATTGTTGTAGTCCGGGTGGTGTACCCTCTGCAAGACACAGCAACCCCAGAAATTTTACCAGTCTTACTTCACACC 70288391 70288561 NA NA NA NA NA NA GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC natural 60 74 0.838467658932249 0.974532614565704 0.906500136748977 1007 789 0.97725597672978 0.989309750520104 0.983282863624942 0.838467658932249 0.974532614565704 0.97725597672978 0.989309750520104 0 0 0 0 0.906500136748977 0.983282863624942 0 0 0 FALSE FALSE NA NA NA NA NA PDZD11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZD11 NA NA NA ENSG00000120509 ENSE00003529566 NA NA NA NA NA NA NA 0.813638005471866 FALSE NA ENSE00000672288_001 ENSE00000672288 001 X 69508242 69508411 - 38 84 48 G C 69508253 621 159 GGATGAATCTACCCTGAAATAAGGTTTCATAAGTTCACCTGAGCTCCAGGAGGCTTCTTCAGTGTGATGGTTCGGGGCAGAAACTGGGTCAACTCATTGTTGTAGTCCGGGTGGTGTACCCTCTGCAAGACACAGCAACCCCAGAAATTTTACCAGTCTTACTTCACACC 70288391 70288561 70288402 70288403 70288403 downstr_intron 27 1.72972972972973 GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAGGGTAGATTCATCC GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC mutant NA NA NA NA NA 74 216 1 1 1 0.838467658932249 0.974532614565704 0.97725597672978 0.989309750520104 NA NA 0.0227440232702202 0.0106902494798965 0.906500136748977 0.983282863624942 NA 0.0167171363750583 NA FALSE NA 0.001 0.574 . intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 3/4 1 NA AGC G,C 8.237e-06 X:70288403 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003529566 intron_variant -0.938488 0.13696 0.12504 0 0.419690322839225 0.128306 0.813638005471866 FALSE 5.75073e-06 ENSE00000672288_002 ENSE00000672288 002 X 69508242 69508411 - 38 84 48 C T 69508255 622 157 GGATGAATCTAGCTTGAAATAAGGTTTCATAAGTTCACCTGAGCTCCAGGAGGCTTCTTCAGTGTGATGGTTCGGGGCAGAAACTGGGTCAACTCATTGTTGTAGTCCGGGTGGTGTACCCTCTGCAAGACACAGCAACCCCAGAAATTTTACCAGTCTTACTTCACACC 70288391 70288561 70288404 70288405 70288405 downstr_intron 25 1.67567567567568 GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAAGCTAGATTCATCC GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC mutant NA NA NA NA NA 524 14 0.999448940339606 1 0.999724470169803 0.838467658932249 0.974532614565704 0.97725597672978 0.989309750520104 NA NA 0.0221929636098257 0.0106902494798965 0.906500136748977 0.983282863624942 NA 0.0164416065448611 NA FALSE NA 0 -0.547 . intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 3/4 rs377274379 1 NA T:0.0003 T:0 CCT C,T 8.237e-06 X:70288405 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003529566 intron_variant -0.447158 0.1498 0.03914 0 0.366871185801938 0.128306 0.813638005471866 FALSE NA ENSE00000672288_005 ENSE00000672288 005 X 69508242 69508411 - 38 84 48 C T 69508331 625 81 GGATGAATCTAGCCTGAAATAAGGTTTCATAAGTTCACCTGAGCTCCAGGAGGCTTCTTCAGTGTGATGGTTCGGGGCAGAAACTGGGTTAACTCATTGTTGTAGTCCGGGTGGTGTACCCTCTGCAAGACACAGCAACCCCAGAAATTTTACCAGTCTTACTTCACACC 70288391 70288561 70288480 70288481 70288481 exon 33 0.392857142857143 GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTAACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC mutant NA NA NA NA NA 73 48 0.803560904837281 0.8 0.801780452418641 0.838467658932249 0.974532614565704 0.97725597672978 0.989309750520104 NA NA -0.173695071892499 -0.189309750520103 0.906500136748977 0.983282863624942 NA -0.181502411206301 NA FALSE NA 1 1.195 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 3/5 1 NA TCA C,T 1.647e-05 X:70288481 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003529566 synonymous_variant 1.011397 0.96818 0.8223 0 0.8070486403715 0 0.813638005471866 FALSE 1.12007e-05 ENSE00000672288_BRK ENSE00000672288 BRK X 69508242 69508411 - 38 84 48 A,G; T,T NA NA NA GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCTTAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGCCGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC 70288391 70288561 NA NA NA NA NA NA GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCTTAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGCCGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC GGTGTGAAGTAAGACTGGTAAAATTTCTGGGGTTGCTGTGTCTTGCAGAGGGTACACCACCCGGACTACAACAATGAGTTGACCCAGTTTCTGCCCCGAACCATCACACTGAAGAAGCCTCCTGGAGCTCAGGTGAACTTATGAAACCTTATTTCAGGCTAGATTCATCC control 97 50 0 0 0 NA NA NA NA NA 0.838467658932249 0.974532614565704 0.97725597672978 0.989309750520104 -0.838467658932249 -0.974532614565704 NA NA 0.906500136748977 0.983282863624942 -0.906500136748977 NA NA NA TRUE NA NA NA NA NA PDZD11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZD11 NA NA NA ENSG00000120509 ENSE00003529566 NA NA NA NA NA NA NA 0.813638005471866 FALSE NA ENSE00000672290_000 ENSE00000672290 000 X 69507916 69508085 - 51 57 62 NA NA NA NA NA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 NA NA NA NA NA NA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA natural 85 81 0.637209199400092 0.730609849215664 0.683909524307878 6484 7370 0.921607086607141 0.953163329884001 0.937385208245571 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 0 0 0 0 0.683909524307878 0.937385208245571 0 0 0 FALSE FALSE NA NA NA NA NA PDZD11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZD11 NA NA NA ENSG00000120509 ENSE00003550337 NA NA NA NA NA NA NA 0.813638005471866 FALSE NA ENSE00000672290_001 ENSE00000672290 001 X 69507916 69508085 - 51 57 62 C T 69507937 608 149 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCATTACTTCCCTTTGTTAAATTA 70288065 70288235 70288086 70288087 70288087 downstr_intron 30 1.6 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCATTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 1098 886 0.954840636441058 0.962380145224047 0.958610390832553 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA 0.0332335498339171 0.00921681534004581 0.683909524307878 0.937385208245571 NA 0.0212251825869815 NA FALSE NA 0 -0.106 rs150473301 intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 4/4 rs150473301 1 T:0 T:0.0014 NA T:0 T:0.0089 T:0 T:0.0021 T:0.0092 ACG C,T 0.005265 X:70288087 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 intron_variant -0.256789 0.20436 0.10176 0 0.574443790604213 0.114237 0.813638005471866 FALSE 0.00501598 ENSE00000672290_003 ENSE00000672290 003 X 69507916 69508085 - 51 57 62 A G 69507952 610 134 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGCAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288101 70288102 70288102 downstr_intron 15 1.3 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGCAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 502 403 0.895395051836054 0.86100072637947 0.878197889107762 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA -0.0262120347710876 -0.0921626035045315 0.683909524307878 0.937385208245571 NA -0.0591873191378096 NA FALSE NA 0.001 0.344 . intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 4/4 1 NA TAC A,G 8.238e-06 X:70288102 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 intron_variant 0.029029 0.20736 0.07673 0 0.586526054916847 0.114237 0.813638005471866 FALSE 1.13872e-05 ENSE00000672290_004 ENSE00000672290 004 X 69507916 69508085 - 51 57 62 A G 69507959 611 127 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTACGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288108 70288109 70288109 downstr_intron 8 1.16 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTACGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 3493 1283 0.80011527830421 0.807574825769008 0.803845052036609 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA -0.121491808302931 -0.145588504114994 0.683909524307878 0.937385208245571 NA -0.133540156208962 NA FALSE NA 0.001 0.118 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PDZD11 HGNC 28034 ENST00000473667 4/4 1 NA CAT A,G 8.237e-06 X:70288109 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 splice_region_variant -0.416741 0.21286 0.10212 0 0.586642089385478 0.128184 0.813638005471866 FALSE 1.69963e-05 ENSE00000672290_005 ENSE00000672290 005 X 69507916 69508085 - 51 57 62 G A 69507979 612 107 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATTTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288128 70288129 70288129 exon -13 0.789473684210526 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATTTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 749 52 0.00102281011411253 0.0143952816112186 0.00770904586266559 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA -0.920584276493029 -0.938768048272783 0.683909524307878 0.937385208245571 NA -0.929676162382906 NA TRUE NA 1 4.713 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 4/5 1 NA AGA G,A 0.0001647 X:70288129 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 synonymous_variant 1.110102 0.98236 0.97092 0 0.802028917545743 0 0.813638005471866 FALSE 0.000157706 ENSE00000672290_006 ENSE00000672290 006 X 69507916 69508085 - 51 57 62 G A 69508026 613 60 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTATAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288175 70288176 70288176 upstr_intron -3 -0.032258064516129 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTATAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 88 326 0.164832948732595 0.00225033097173616 0.0835416398521655 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA -0.756774137874546 -0.950912998912265 0.683909524307878 0.937385208245571 NA -0.853843568393406 NA TRUE NA 1 2.864 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PDZD11 HGNC 28034 ENST00000473667 3/4 1 NA TGT G,A 0.0001565 X:70288176 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 splice_region_variant 1.250563 0.97202 0.89884 0 0.800314606720263 0.544211 0.813638005471866 FALSE 0.000158451 ENSE00000672290_008 ENSE00000672290 008 X 69507916 69508085 - 51 57 62 A C 69508041 615 45 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCGGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288190 70288191 70288191 upstr_intron -18 -0.274193548387097 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCGGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 299 719 0.00264849303451966 0.0784167648136423 0.040532628924081 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA -0.918958593572622 -0.874746565070359 0.683909524307878 0.937385208245571 NA -0.89685257932149 NA TRUE NA 0.813 0.792 . intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 3/4 1 NA CAG A,C 2.471e-05 X:70288191 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 intron_variant 1.67286 0.31207 0.31532 0 0.833141552724876 0.375014 0.813638005471866 FALSE 1.14036e-05 ENSE00000672290_009 ENSE00000672290 009 X 69507916 69508085 - 51 57 62 A G 69508044 616 42 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCACTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288193 70288194 70288194 upstr_intron -21 -0.32258064516129 TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCACTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 118 1082 0.889048147651343 0.899655182942292 0.894351665296818 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA -0.032558938955798 -0.0535081469417092 0.683909524307878 0.937385208245571 NA -0.0430335429487536 NA FALSE NA 0.055 0.598 . intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 3/4 1 NA AAT A,G 8.237e-06 X:70288194 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 intron_variant 1.791554 0.2089 0.05348 0 0.717185118728271 0.380685 0.813638005471866 FALSE 5.71713e-06 ENSE00000672290_010 ENSE00000672290 010 X 69507916 69508085 - 51 57 62 A G 69508055 617 31 TACTAGTTGTTCTTGTGTTTGTGGTCTCCACTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288204 70288205 70288205 upstr_intron -32 -0.5 TACTAGTTGTTCTTGTGTTTGTGGTCTCCACTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 1538 98 0.949888216962779 0.95 0.94994410848139 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA 0.0282811303556382 -0.00316332988400136 0.683909524307878 0.937385208245571 NA 0.0125589002358184 NA FALSE NA 0.002 0.914 . intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 3/4 1 NA AAT A,G 8.238e-06 X:70288205 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 intron_variant 0.870933 0.14832 0.05632 0 0.631276943124208 0.308316 0.813638005471866 FALSE 1.74214e-05 ENSE00000672290_012 ENSE00000672290 012 X 69507916 69508085 - 51 57 62 A C 69508073 619 13 TACTAGTTGTTCGTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288222 70288223 70288223 upstr_intron -50 -0.790322580645161 TACTAGTTGTTCGTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 1378 776 0.939877291527474 0.925302872238662 0.932590081883068 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA 0.0182702049203327 -0.0278604576453393 0.683909524307878 0.937385208245571 NA -0.00479512636250329 NA FALSE NA 0.006 -0.052 . intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 3/4 1 NA AAG A,C 2.472e-05 X:70288223 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 intron_variant 0.184585 0.16187 0.06285 0 0.631943542119394 0.174932 0.813638005471866 FALSE 1.19788e-05 ENSE00000672290_013 ENSE00000672290 013 X 69507916 69508085 - 51 57 62 A G 69508075 620 11 TACTAGTTGTCCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 70288224 70288225 70288225 upstr_intron -52 -0.82258064516129 TACTAGTTGTCCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA mutant NA NA NA NA NA 1180 732 0.898987016115884 0.907249511904692 0.903118264010288 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 NA NA -0.0226200704912572 -0.0459138179793092 0.683909524307878 0.937385208245571 NA -0.0342669442352832 NA FALSE NA 0.008 0.912 . intron_variant&non_coding_transcript_variant MODIFIER PDZD11 HGNC 28034 ENST00000473667 3/4 1 NA GAA A,G 8.241e-05 X:70288225 PDZD11 HGNC Symbol protein_coding 3919 ENSG00000120509 ENSE00003550337 intron_variant 0.082974 0.16859 0.09597 0 0.629960621302898 0.115704 0.813638005471866 FALSE 8.99626e-05 ENSE00000672290_BRK ENSE00000672290 BRK X 69507916 69508085 - 51 57 62 A,G; T,T NA NA NA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACTTTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGCCATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA 70288065 70288235 NA NA NA NA NA NA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACTTTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGCCATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA TACTAGTTGTTCTTGTGTTTGTGGTCTCCATTGAGCCCCCATTCTGTGCTCTTGTCTTACAGTTGGGATTTAACATCCGAGGAGGAAAGGCCTCCCAGCTAGGCATCTTCATCTCCAAGGTATTTATGCCCAGTAGGCAATATGGATCGTTACTTCCCTTTGTTAAATTA control 29 73 0 0 0 775 184 0 0 0 0.637209199400092 0.730609849215664 0.921607086607141 0.953163329884001 -0.637209199400092 -0.730609849215664 -0.921607086607141 -0.953163329884001 0.683909524307878 0.937385208245571 -0.683909524307878 -0.937385208245571 0.253475683937693 TRUE TRUE NA NA NA NA NA PDZD11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZD11 NA NA NA ENSG00000120509 ENSE00003550337 NA NA NA NA NA NA NA 0.813638005471866 FALSE NA ENSE00000672309_000 ENSE00000672309 000 X 69496223 69496392 + 60 60 50 NA NA NA NA NA TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA 70276372 70276542 NA NA NA NA NA NA TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA natural NA NA NA NA NA 1625 1388 0.993930998003253 0.999972576945569 0.996951787474411 NA NA 0.993930998003253 0.999972576945569 NA NA 0 0 NA 0.996951787474411 NA 0 NA FALSE NA NA NA NA NA NA ARR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARR3 NA NA NA ENSG00000120500 ENSE00000672309 NA NA NA NA NA NA NA 0.137242313191003 FALSE NA ENSE00000672309_008 ENSE00000672309 008 X 69496223 69496392 + 60 60 50 A T 69496293 599 71 TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCATCCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA 70276372 70276542 70276442 70276443 70276443 exon 11 0.183333333333333 TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCATCCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA mutant NA NA NA NA NA 291 253 1 1 1 NA NA 0.993930998003253 0.999972576945569 NA NA 0.00606900199674698 2.74230544308196e-05 NA 0.996951787474411 NA 0.0030482125255889 NA FALSE NA 1 6.289 . missense_variant MODERATE ARR3 HGNC 710 ENST00000374495 7/16 1 deleterious(0.03) probably_damaging(0.949) NA AAC A,T 8.237e-06 X:70276443 ARR3 HGNC Symbol protein_coding 13535 ENSG00000120500 ENSE00000672309 missense_variant 6.02784 0.98991 0.98865 0 0.988614710198456 0 0.137242313191003 FALSE 1.11972e-05 ENSE00000672309_011 ENSE00000672309 011 X 69496223 69496392 + 60 60 50 A G 69496339 602 117 TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGGAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA 70276372 70276542 70276488 70276489 70276489 exon -4 0.95 TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGGAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA mutant NA NA NA NA NA 28 187 1 0.986056704386701 0.993028352193351 NA NA 0.993930998003253 0.999972576945569 NA NA 0.00606900199674698 -0.0139158725588681 NA 0.996951787474411 NA -0.00392343528106054 NA FALSE NA 0.682 0.009 rs148968385 synonymous_variant LOW ARR3 HGNC 710 ENST00000374495 7/16 1 NA GAA A,G 1.647e-05 X:70276489 ARR3 HGNC Symbol protein_coding 13535 ENSG00000120500 ENSE00000672309 synonymous_variant -0.328039 0.96243 0.7458 0 0.707093689685013 0 0.137242313191003 FALSE 2.80267e-05 ENSE00000672309_016 ENSE00000672309 016 X 69496223 69496392 + 60 60 50 G A 69496377 607 155 TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAATGCCAGGGAAGAGGA 70276372 70276542 70276526 70276527 70276527 downstr_intron 35 1.71428571428571 TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAATGCCAGGGAAGAGGA TCTTTTGTATTTGTTTGTATTCTTTTCTACTTCTTTTCTGATCTCCTTTTTGTCCCCTAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAGGTGAGGACTGGGTTCTAAGAAAGAGGGATAGGTAGTGCCAGGGAAGAGGA mutant NA NA NA NA NA 17 130 1 1 1 NA NA 0.993930998003253 0.999972576945569 NA NA 0.00606900199674698 2.74230544308196e-05 NA 0.996951787474411 NA 0.0030482125255889 NA FALSE NA 0.002 0.042 . intron_variant MODIFIER ARR3 HGNC 710 ENST00000374495 7/15 1 NA AGT G,A 8.237e-05 X:70276527 ARR3 HGNC Symbol protein_coding 13535 ENSG00000120500 ENSE00000672309 intron_variant 0.746336 0.91424 0.08206 0 0.525179487507134 0.0496399 0.137242313191003 FALSE 5.6588e-05 ENSE00000672753_000 ENSE00000672753 000 X 71804046 71804215 - 53 54 63 NA NA NA NA NA CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG 72584195 72584365 NA NA NA NA NA NA CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG natural NA NA NA NA NA 611 805 0.997480913769876 0.999803487332768 0.998642200551322 NA NA 0.997480913769876 0.999803487332768 NA NA 0 0 NA 0.998642200551322 NA 0 NA FALSE NA NA NA NA NA NA PHKA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA1 NA NA NA ENSG00000067177 ENSE00000672753 NA NA NA NA NA NA NA 0.881287038362445 FALSE NA ENSE00000672753_001 ENSE00000672753 001 X 71804046 71804215 - 53 54 63 C A 71804069 679 147 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTTACTGATAACTTTGCTGGCTAAAG 72584195 72584365 72584218 72584219 72584219 downstr_intron 30 1.57692307692308 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTTACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG mutant NA NA NA NA NA 324 230 0.999745689837355 1 0.999872844918678 NA NA 0.997480913769876 0.999803487332768 NA NA 0.00226477606747932 0.000196512667232085 NA 0.998642200551322 NA 0.0012306443673557 NA FALSE NA 0.015 0.624 rs184132749 intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 30/31 1 NA TCA C,A 0.000626 X:72584219 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000672753 intron_variant 0.431364 0.2397 0.12438 0 0.589935567219261 0.534319 0.881287038362445 FALSE 0.000651611 ENSE00000672753_002 ENSE00000672753 002 X 71804046 71804215 - 53 54 63 A G 71804072 680 144 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTACGTGACTGATAACTTTGCTGGCTAAAG 72584195 72584365 72584221 72584222 72584222 downstr_intron 27 1.51923076923077 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTACGTGACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG mutant NA NA NA NA NA 252 315 0.950982626722133 1 0.975491313361067 NA NA 0.997480913769876 0.999803487332768 NA NA -0.0464982870477428 0.000196512667232085 NA 0.998642200551322 NA -0.0231508871902554 NA FALSE NA 0.007 2.136 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 30/31 1 NA CAT A,G 1.647e-05 X:72584222 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000672753 intron_variant -0.071864 0.22471 0.11937 0 0.612063268780512 0.0497025 0.881287038362445 FALSE 1.13908e-05 ENSE00000672753_003 ENSE00000672753 003 X 71804046 71804215 - 53 54 63 A G 71804087 681 129 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCCTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG 72584195 72584365 72584236 72584237 72584237 downstr_intron 12 1.23076923076923 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCCTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG mutant NA NA NA NA NA 189 326 0.997357408449732 1 0.998678704224866 NA NA 0.997480913769876 0.999803487332768 NA NA -0.000123505320144379 0.000196512667232085 NA 0.998642200551322 NA 3.65036735438529e-05 NA FALSE NA 0.24 1.721 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 30/31 1 NA AAG A,G 2.471e-05 X:72584237 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000672753 intron_variant -0.121583 0.24867 0.28724 0 0.54803606935501 0.0518458 0.881287038362445 FALSE 2.82333e-05 ENSE00000672753_005 ENSE00000672753 005 X 71804046 71804215 - 53 54 63 G A 71804108 683 108 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACTACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG 72584195 72584365 72584257 72584258 72584258 exon -10 0.833333333333333 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACTACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG mutant NA NA NA NA NA 12 30 1 1 1 NA NA 0.997480913769876 0.999803487332768 NA NA 0.00251908623012398 0.000196512667232085 NA 0.998642200551322 NA 0.00135779944867803 NA FALSE NA 0.323 -0.503 . synonymous_variant LOW PHKA1 HGNC 8925 ENST00000373545 30/32 1 NA TGG G,A 8.237e-06 X:72584258 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000672753 synonymous_variant 1.090031 0.78196 0.33458 0 0.761914184654418 0 0.881287038362445 FALSE 1.68847e-05 ENSE00000672753_007 ENSE00000672753 007 X 71804046 71804215 - 53 54 63 T C 71804148 685 68 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCGCGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG 72584195 72584365 72584297 72584298 72584298 exon 5 0.0925925925925926 CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCGCGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG mutant NA NA NA NA NA 1146 482 0.942333316942996 0.99759558182867 0.969964449385833 NA NA 0.997480913769876 0.999803487332768 NA NA -0.0551475968268802 -0.00220790550409777 NA 0.998642200551322 NA -0.028677751165489 NA FALSE NA 1 7.784 . missense_variant MODERATE PHKA1 HGNC 8925 ENST00000373545 30/32 1 tolerated(0.1) probably_damaging(0.997) NA GTG T,C 1.647e-05 X:72584298 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000672753 missense_variant 1.767141 0.958 0.96339 0 0.979571680542626 0 0.881287038362445 FALSE 1.12654e-05 ENSE00000672753_009 ENSE00000672753 009 X 71804046 71804215 - 53 54 63 A C 71804185 687 31 CCGTTGTTTGTCTATCCTTGGTGATATGGTGTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG 72584195 72584365 72584334 72584335 72584335 upstr_intron -33 -0.507936507936508 CCGTTGTTTGTCTATCCTTGGTGATATGGTGTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG mutant NA NA NA NA NA 79 631 1 0.999939665513462 0.999969832756731 NA NA 0.997480913769876 0.999803487332768 NA NA 0.00251908623012398 0.00013617818069378 NA 0.998642200551322 NA 0.00132763220540888 NA FALSE NA 0 -0.081 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 29/31 1 NA AAA A,C 2.472e-05 X:72584335 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000672753 intron_variant -0.813585 0.1998 0.02089 0 0.401869961195198 0.0574784 0.881287038362445 FALSE 2.29066e-05 ENSE00000672753_010 ENSE00000672753 010 X 71804046 71804215 - 53 54 63 C G 71804188 688 28 CCGTTGTTTGTCTATCCTTGGTGATATCGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG 72584195 72584365 72584337 72584338 72584338 upstr_intron -36 -0.555555555555556 CCGTTGTTTGTCTATCCTTGGTGATATCGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG mutant NA NA NA NA NA 26 60 1 0.996101205755726 0.998050602877863 NA NA 0.997480913769876 0.999803487332768 NA NA 0.00251908623012398 -0.00370228157704211 NA 0.998642200551322 NA -0.000591597673459066 NA FALSE NA 0 -0.694 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 29/31 1 NA CCA C,G 4.943e-05 X:72584338 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000672753 intron_variant -0.404444 0.17388 0.0146 0 0.351748852344687 0.056979 0.881287038362445 FALSE 2.87505e-05 ENSE00000672753_011 ENSE00000672753 011 X 71804046 71804215 - 53 54 63 A G 71804189 689 27 CCGTTGTTTGTCTATCCTTGGTGATACGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG 72584195 72584365 72584338 72584339 72584339 upstr_intron -37 -0.571428571428571 CCGTTGTTTGTCTATCCTTGGTGATACGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG CCGTTGTTTGTCTATCCTTGGTGATATGGTTTTTGGTGATATGGTTTTTTTTCTGTTTTGCAGTGTCACGGACTTTCTGTTGAAGGGTTTGTCCTTCCTTCCTCTACCACTAGAGAGGTAAGAGTCTCTTTCTTGCACATTTATGTGACTGATAACTTTGCTGGCTAAAG mutant NA NA NA NA NA 292 397 0.993022969958915 0.995027979873372 0.994025474916144 NA NA 0.997480913769876 0.999803487332768 NA NA -0.00445794381096054 -0.0047755074593957 NA 0.998642200551322 NA -0.00461672563517812 NA FALSE NA 0 -0.877 . intron_variant MODIFIER PHKA1 HGNC 8925 ENST00000373545 29/31 1 NA CAT A,G 8.239e-06 X:72584339 PHKA1 HGNC Symbol protein_coding 135505 ENSG00000067177 ENSE00000672753 intron_variant -0.297139 0.16459 0.02503 0 0.242901184504466 0.056979 0.881287038362445 FALSE 5.75185e-06 ENSE00000672778_000 ENSE00000672778 000 15 28234700 28234869 - 47 66 57 NA NA NA NA NA CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 NA NA NA NA NA NA CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC natural 2157 1461 0.0229984270982011 0.0245982286688358 0.0237983278835185 2054 1294 0.759482613760645 0.668766069477722 0.714124341619184 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 0 0 0 0 0.0237983278835185 0.714124341619184 0 0 0 FALSE FALSE NA NA NA NA NA OCA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OCA2 NA NA NA ENSG00000104044 ENSE00000672778 NA NA NA NA NA NA NA 7.67937025845118e-12 FALSE NA ENSE00000672778_003 ENSE00000672778 003 15 28234700 28234869 - 47 66 57 T A 28234713 32 157 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCTCGCCTGCGGTAAC 27989553 27989723 27989566 27989567 27989567 downstr_intron 34 1.73913043478261 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCTCGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 70 33 0.0370774136879328 0.102153132093211 0.0696152728905718 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 0.0140789865897317 0.0775549034243749 NA NA 0.0237983278835185 0.714124341619184 0.0458169450070533 NA NA NA FALSE 0 -0.216 . intron_variant MODIFIER OCA2 HGNC 8101 ENST00000354638 11/23 1 NA GTG T,A 1.647e-05 15:27989567 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 intron_variant 0.355717 0.20244 0.05532 0.088285 0.799754942880735 0.160696 7.67937025845118e-12 FALSE 8.14292e-06 ENSE00000672778_005 ENSE00000672778 005 15 28234700 28234869 - 47 66 57 C T 28234726 34 144 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTAGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989579 27989580 27989580 downstr_intron 21 1.45652173913043 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTAGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 50 226 0 0 0 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 NA NA 0.0237983278835185 0.714124341619184 -0.0237983278835185 NA NA NA FALSE 0 0.132 . intron_variant MODIFIER OCA2 HGNC 8101 ENST00000354638 11/23 1 NA CCA C,T 8.236e-06 15:27989580 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 intron_variant 0.445158 0.26105 0.05209 0.088285 0.764541994471436 0.158951 7.67937025845118e-12 FALSE 1.21985e-05 ENSE00000672778_006 ENSE00000672778 006 15 28234700 28234869 - 47 66 57 C T 28234728 35 142 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCATGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989581 27989582 27989582 downstr_intron 19 1.41304347826087 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCATGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 58 22 0 0 0 694 108 0.000865514896352031 0 0.000432757448176016 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 -0.758617098864293 -0.668766069477722 0.0237983278835185 0.714124341619184 -0.0237983278835185 -0.713691584171008 0.689893256287489 TRUE FALSE 0 0.797 . intron_variant MODIFIER OCA2 HGNC 8101 ENST00000354638 11/23 rs199706303 1 T:0.0004 T:0.0008 T:0 NA T:0.001 T:0 T:0 ACG C,T 4.118e-05 15:27989582 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 intron_variant 0.664464 0.28445 0.09202 0.088285 0.636631275087197 0.219486 7.67937025845118e-12 FALSE NA ENSE00000672778_007 ENSE00000672778 007 15 28234700 28234869 - 47 66 57 G A 28234729 36 141 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCTGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989582 27989583 27989583 downstr_intron 18 1.39130434782609 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCTGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 42 266 0 0 0 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 NA NA 0.0237983278835185 0.714124341619184 -0.0237983278835185 NA NA NA FALSE 0 -0.715 NA NA NA OCA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:27989583 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 intron_variant 0.017753 0.19331 0.03434 0.088285 0.670084221382506 0.158951 7.67937025845118e-12 FALSE 0.000357904 ENSE00000672778_014 ENSE00000672778 014 15 28234700 28234869 - 47 66 57 C T 28234747 43 123 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATAGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989600 27989601 27989601 exon -1 1 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATAGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 11 197 0 0 0 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 NA NA 0.0237983278835185 0.714124341619184 -0.0237983278835185 NA NA NA FALSE 1 6.877 rs121918171 missense_variant&splice_region_variant MODERATE OCA2 HGNC 8101 ENST00000354638 11/24 rs121918171&CM031309 1 deleterious(0) probably_damaging(0.999) NA CCA C,T 8.236e-06 15:27989601 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 missense_variant 6.707346 0.96791 0.93137 0.55562 0.99780579211425 0 7.67937025845118e-12 FALSE 1.21883e-05 ENSE00000672778_017 ENSE00000672778 017 15 28234700 28234869 - 47 66 57 A G 28234757 46 113 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCCGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989610 27989611 27989611 exon -11 0.848484848484849 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCCGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 60 52 0 0 0 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 NA NA 0.0237983278835185 0.714124341619184 -0.0237983278835185 NA NA NA FALSE 1 8.219 . missense_variant MODERATE OCA2 HGNC 8101 ENST00000354638 11/24 1 deleterious(0) probably_damaging(1) NA CAG A,G 8.236e-06 15:27989611 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 missense_variant 6.314103 0.96226 0.94968 0.55562 0.999044389152405 0 7.67937025845118e-12 FALSE 4.06187e-06 ENSE00000672778_021 ENSE00000672778 021 15 28234700 28234869 - 47 66 57 A T 28234776 50 94 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATATTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989629 27989630 27989630 exon -30 0.560606060606061 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATATTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 114 39 0 0.121842889889778 0.0609214449448892 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 0.0972446612209426 NA NA 0.0237983278835185 0.714124341619184 0.0371231170613707 NA NA NA FALSE 1 8.219 rs137956605 missense_variant MODERATE OCA2 HGNC 8101 ENST00000354638 11/24 rs137956605&CM941109 1 tolerated(0.24) possibly_damaging(0.507) T:0.0020 T:0.0076 T:0 NA T:0 T:0 T:0 T:0.0059 T:0 AAA A,T 0.0006177 15:27989630 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 missense_variant 4.281609 0.96228 0.95001 0.65861 0.989769008387809 0 7.67937025845118e-12 FALSE 0.000479262 ENSE00000672778_022 ENSE00000672778 022 15 28234700 28234869 - 47 66 57 T C 28234778 51 92 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGGTTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989631 27989632 27989632 exon -32 0.53030303030303 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGGTTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 23 18 0 0 0 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 NA NA 0.0237983278835185 0.714124341619184 -0.0237983278835185 NA NA NA FALSE 1 7.069 . missense_variant MODERATE OCA2 HGNC 8101 ENST00000354638 11/24 1 deleterious(0) probably_damaging(0.997) NA ATC T,C 8.236e-06 15:27989632 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 missense_variant 6.4161 0.96135 0.9269 0.65861 0.998741875987498 0 7.67937025845118e-12 FALSE 4.0618e-06 ENSE00000672778_026 ENSE00000672778 026 15 28234700 28234869 - 47 66 57 A G 28234795 55 75 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCACGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989648 27989649 27989649 exon 18 0.272727272727273 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCACGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 169 99 0 0 0 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 NA NA 0.0237983278835185 0.714124341619184 -0.0237983278835185 NA NA NA FALSE 0.047 -1.026 . synonymous_variant LOW OCA2 HGNC 8101 ENST00000354638 11/24 1 NA CAT A,G 0.000173 15:27989649 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 synonymous_variant -0.898193 0.20786 0.06592 0.65861 0.539392293449513 0 7.67937025845118e-12 FALSE 0.000174639 ENSE00000672778_031 ENSE00000672778 031 15 28234700 28234869 - 47 66 57 T C 28234832 60 38 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAGATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989685 27989686 27989686 upstr_intron -20 -0.333333333333333 CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAGATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 173 387 0 0 0 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 NA NA 0.0237983278835185 0.714124341619184 -0.0237983278835185 NA NA NA FALSE 0.894 2.131 . intron_variant MODIFIER OCA2 HGNC 8101 ENST00000354638 10/23 1 NA TTT T,C 2.471e-05 15:27989686 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 intron_variant 1.058104 0.2715 0.5346 0.088285 0.809378845520549 0.535862 7.67937025845118e-12 FALSE 1.22e-05 ENSE00000672778_035 ENSE00000672778 035 15 28234700 28234869 - 47 66 57 G A 28234846 64 24 CTCATCACTGGGATGGCGGCGCATGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989699 27989700 27989700 upstr_intron -34 -0.578947368421053 CTCATCACTGGGATGGCGGCGCATGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 30 21 0 0.0313123232998654 0.0156561616499327 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 0.00671409463102961 NA NA 0.0237983278835185 0.714124341619184 -0.00814216623358575 NA NA NA FALSE 0 0.081 . intron_variant MODIFIER OCA2 HGNC 8101 ENST00000354638 10/23 rs370024151 1 NA A:0 A:0.0001 CGT G,A 0.0001153 15:27989700 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 intron_variant 0.141284 0.24692 0.11203 0.088285 0.577967815219538 0.248426 7.67937025845118e-12 FALSE 0.000103055 ENSE00000672778_036 ENSE00000672778 036 15 28234700 28234869 - 47 66 57 C T 28234849 65 21 CTCATCACTGGGATGGCGGCACACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC 27989553 27989723 27989702 27989703 27989703 upstr_intron -37 -0.631578947368421 CTCATCACTGGGATGGCGGCACACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC CTCATCACTGGGATGGCGGCGCACGGATTAATTGGCAAATTTGTGCTTTGATTGCAGAGACCCAGCCTGACCCATGTGGTGGAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATGGTAATTACAGCTCTCCCCGTGGGACTGGGCTCCACGCCTGCGGTAAC mutant 17 25 0 0 0 NA NA NA NA NA 0.0229984270982011 0.0245982286688358 0.759482613760645 0.668766069477722 -0.0229984270982011 -0.0245982286688358 NA NA 0.0237983278835185 0.714124341619184 -0.0237983278835185 NA NA NA FALSE 0 -0.082 NA NA NA OCA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:27989703 OCA2 HGNC Symbol protein_coding 344483 ENSG00000104044 ENSE00000672778 intron_variant 0.392915 0.24937 0.10293 0.088285 0.502391825040249 0.246135 7.67937025845118e-12 FALSE 1.24756e-05 ENSE00000672839_000 ENSE00000672839 000 15 29390646 29390815 + 47 87 36 NA NA NA NA NA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 NA NA NA NA NA NA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA natural NA NA NA NA NA 1984 1451 0.998333480247139 0.816324165190363 0.907328822718751 NA NA 0.998333480247139 0.816324165190363 NA NA 0 0 NA 0.907328822718751 NA 0 NA FALSE NA NA NA NA NA NA APBA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APBA2 NA NA NA ENSG00000034053 ENSE00003573619 NA NA NA NA NA NA NA 0.0735269721652979 FALSE NA ENSE00000672839_002 ENSE00000672839 002 15 29390646 29390815 + 47 87 36 T G 29390668 167 23 TTCCGAGTTGGTTTTTGGACTTGAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098464 29098465 29098465 upstr_intron -25 -0.51063829787234 TTCCGAGTTGGTTTTTGGACTTGAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 163 519 0.987536431661401 1 0.9937682158307 NA NA 0.998333480247139 0.816324165190363 NA NA -0.0107970485857378 0.183675834809637 NA 0.907328822718751 NA 0.0864393931119498 NA FALSE NA 1 4.029 . intron_variant MODIFIER APBA2 HGNC 579 ENST00000558259 7/13 rs200227026 1 G:0.0012 G:0 G:0 NA G:0 G:0.006 G:0 G:0.0005 G:0.0059 TTA T,G 0.003706 15:29098465 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 intron_variant 0.350841 0.4665 0.86155 0.053691 0.684436452655694 0.0660119 0.0735269721652979 FALSE 0.00398479 ENSE00000672839_003 ENSE00000672839 003 15 29390646 29390815 + 47 87 36 T C 29390674 168 29 TTCCGAGTTGGTTTTTGGACTTTAACAACATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098470 29098471 29098471 upstr_intron -19 -0.382978723404255 TTCCGAGTTGGTTTTTGGACTTTAACAACATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 114 1064 1 0.943870547415977 0.971935273707989 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.127546382225615 NA 0.907328822718751 NA 0.064606450989238 NA FALSE NA 0 -0.062 . intron_variant MODIFIER APBA2 HGNC 579 ENST00000558259 7/13 1 NA ATA T,C 8.236e-06 15:29098471 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 intron_variant -0.127741 0.17385 0.02213 0.053691 0.608788429958871 0.0660119 0.0735269721652979 FALSE 4.06138e-06 ENSE00000672839_006 ENSE00000672839 006 15 29390646 29390815 + 47 87 36 C T 29390685 171 40 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCTTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098481 29098482 29098482 upstr_intron -8 -0.148936170212766 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCTTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 48 970 1 1 1 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.183675834809637 NA 0.907328822718751 NA 0.0926711772812493 NA FALSE NA 0.369 0.138 . splice_region_variant&intron_variant LOW APBA2 HGNC 579 ENST00000558259 7/13 1 NA CCT C,T 8.237e-06 15:29098482 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 splice_region_variant 0.175449 0.34855 0.06417 0.053691 0.727866833728167 0.192093 0.0735269721652979 FALSE 4.06081e-06 ENSE00000672839_007 ENSE00000672839 007 15 29390646 29390815 + 47 87 36 A T 29390691 172 46 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTTGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098487 29098488 29098488 upstr_intron -2 -0.0212765957446809 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTTGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 58 237 1 0.998049490558933 0.999024745279466 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.18172532536857 NA 0.907328822718751 NA 0.0916959225607158 NA FALSE NA 1 9.057 . splice_acceptor_variant HIGH APBA2 HGNC 579 ENST00000558259 7/13 1 NA HC TAG A,T 8.236e-06 15:29098488 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 splice_acceptor_variant 4.612846 0.99171 0.9861 0.162113 0.995244915948385 0.885382 0.0735269721652979 FALSE 4.06081e-06 ENSE00000672839_009 ENSE00000672839 009 15 29390646 29390815 + 47 87 36 C A 29390697 174 52 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTATGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098493 29098494 29098494 exon 5 0.0574712643678161 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTATGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 197 73 0.974965390717961 1 0.987482695358981 NA NA 0.998333480247139 0.816324165190363 NA NA -0.0233680895291773 0.183675834809637 NA 0.907328822718751 NA 0.08015387264023 NA FALSE NA 1 5.756 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 8/14 1 deleterious(0) probably_damaging(0.934) NA TCT C,A 8.236e-06 15:29098494 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 missense_variant 6.813364 0.99387 0.96944 0.706298 0.995178824002496 0 0.0735269721652979 FALSE 8.1215e-06 ENSE00000672839_010 ENSE00000672839 010 15 29390646 29390815 + 47 87 36 G A 29390703 175 58 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGAGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098499 29098500 29098500 exon 11 0.126436781609195 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGAGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 481 13 1 1 1 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.183675834809637 NA 0.907328822718751 NA 0.0926711772812493 NA FALSE NA 1 6.479 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 8/14 1 deleterious(0.04) possibly_damaging(0.596) NA GGG G,A 8.236e-06 15:29098500 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 missense_variant 6.13776 0.99378 0.97106 0.706298 0.99746889927096 0 0.0735269721652979 FALSE 4.06072e-06 ENSE00000672839_013 ENSE00000672839 013 15 29390646 29390815 + 47 87 36 G A 29390708 178 63 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATACCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098504 29098505 29098505 exon 16 0.183908045977011 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATACCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 473 42 1 0.8 0.9 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 -0.0163241651903626 NA 0.907328822718751 NA -0.00732882271875068 NA FALSE NA 0.132 0.359 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 8/14 rs556378441 1 tolerated(0.38) benign(0.007) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 1.647e-05 15:29098505 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 missense_variant 0.14427 0.23447 0.10457 0.706298 0.849140589281719 0 0.0735269721652979 FALSE 1.21822e-05 ENSE00000672839_014 ENSE00000672839 014 15 29390646 29390815 + 47 87 36 C T 29390715 179 70 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGATGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098511 29098512 29098512 exon 23 0.264367816091954 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGATGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 144 583 1 0.999728630599824 0.999864315299912 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.183404465409462 NA 0.907328822718751 NA 0.0925354925811614 NA FALSE NA 1 4.752 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 8/14 rs371370074 1 tolerated(0.05) benign(0.097) T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 T:0 T:0.0001 ACG C,T 4.118e-05 15:29098512 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 missense_variant 4.201818 0.98931 0.94058 0.706298 0.995549122033246 0 0.0735269721652979 FALSE 6.90339e-05 ENSE00000672839_016 ENSE00000672839 016 15 29390646 29390815 + 47 87 36 A G 29390720 181 75 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGGCGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098516 29098517 29098517 exon 28 0.32183908045977 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGGCGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 520 26 0.999920832197048 1 0.999960416098524 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00158735194990944 0.183675834809637 NA 0.907328822718751 NA 0.0926315933797734 NA FALSE NA 1 9.057 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 8/14 1 deleterious(0.02) benign(0.395) NA GAC A,G 2.471e-05 15:29098517 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 missense_variant 3.955888 0.9917 0.98599 0.706298 0.998209073409283 0 0.0735269721652979 FALSE 2.03036e-05 ENSE00000672839_017 ENSE00000672839 017 15 29390646 29390815 + 47 87 36 C T 29390721 182 76 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGATGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098517 29098518 29098518 exon 29 0.333333333333333 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGATGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 168 309 1 0.99948783577761 0.999743917888805 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.183163670587247 NA 0.907328822718751 NA 0.0924150951700541 NA FALSE NA 1 7.586 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 8/14 rs375339761&COSM1372285 1 deleterious(0) probably_damaging(0.982) NA T:0.0002 T:0 ACG C,T 4.118e-05 15:29098518 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 missense_variant 6.958858 0.99361 0.97852 0.706298 0.999303594009206 0 0.0735269721652979 FALSE 3.24863e-05 ENSE00000672839_018 ENSE00000672839 018 15 29390646 29390815 + 47 87 36 G C 29390722 183 77 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACCGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098518 29098519 29098519 exon 30 0.344827586206897 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACCGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 210 322 0.978131940683306 0.999048848501637 0.988590394592471 NA NA 0.998333480247139 0.816324165190363 NA NA -0.0202015395638332 0.182724683311274 NA 0.907328822718751 NA 0.0812615718737205 NA FALSE NA 0 -2.328 NA NA NA APBA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:29098519 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 synonymous_variant 1.38218 0.3289 0.03872 0.706298 0.599335448959255 0 0.0735269721652979 FALSE 8.1215e-06 ENSE00000672839_021 ENSE00000672839 021 15 29390646 29390815 + 47 87 36 C T 29390734 186 89 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTTTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098530 29098531 29098531 exon 42 0.482758620689655 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTTTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 371 143 1 0.998892424266585 0.999446212133292 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.182568259076222 NA 0.907328822718751 NA 0.0921173894145417 NA FALSE NA 0.029 -0.806 . synonymous_variant LOW APBA2 HGNC 579 ENST00000558259 8/14 1 NA TCT C,T 8.236e-06 15:29098531 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 synonymous_variant 1.639111 0.73846 0.07531 0.706298 0.789014448633108 0 0.0735269721652979 FALSE 8.12123e-06 ENSE00000672839_022 ENSE00000672839 022 15 29390646 29390815 + 47 87 36 G A 29390749 187 104 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAAAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098545 29098546 29098546 exon -31 0.655172413793103 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAAAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 11 113 1 1 1 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.183675834809637 NA 0.907328822718751 NA 0.0926711772812493 NA FALSE NA 1 3.267 . synonymous_variant LOW APBA2 HGNC 579 ENST00000558259 8/14 CM0910236 1 NA AGA G,A 8.236e-06 15:29098546 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 synonymous_variant 1.329082 0.98127 0.90404 0.706298 0.76573224800851 0 0.0735269721652979 FALSE 4.06068e-06 ENSE00000672839_025 ENSE00000672839 025 15 29390646 29390815 + 47 87 36 C T 29390775 190 130 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACATGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098571 29098572 29098572 exon -5 0.954022988505747 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACATGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 36 570 1 1 1 NA NA 0.998333480247139 0.816324165190363 NA NA 0.00166651975286125 0.183675834809637 NA 0.907328822718751 NA 0.0926711772812493 NA FALSE NA 1 7.586 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 8/14 COSM3969053 1 deleterious(0.02) possibly_damaging(0.531) NA ACG C,T 4.118e-05 15:29098572 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 missense_variant 6.942482 0.99361 0.97852 0.706298 0.999264079859459 0 0.0735269721652979 FALSE 3.24905e-05 ENSE00000672839_026 ENSE00000672839 026 15 29390646 29390815 + 47 87 36 C T 29390785 191 140 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGTGTTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098581 29098582 29098582 downstr_intron 6 1.17142857142857 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGTGTTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 804 344 0.998506082447523 1 0.999253041223762 NA NA 0.998333480247139 0.816324165190363 NA NA 0.000172602200384397 0.183675834809637 NA 0.907328822718751 NA 0.0919242185050109 NA FALSE NA 0 -0.916 . splice_region_variant&intron_variant LOW APBA2 HGNC 579 ENST00000558259 8/13 rs370827031 1 NA T:0 T:0.0001 GCG C,T 0.00014 15:29098582 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 splice_region_variant 0.346183 0.13749 0.01318 0.078448 0.686446791930212 0.110217 0.0735269721652979 FALSE 8.93749e-05 ENSE00000672839_027 ENSE00000672839 027 15 29390646 29390815 + 47 87 36 G A 29390786 192 141 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCATTTAAGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098582 29098583 29098583 downstr_intron 7 1.2 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCATTTAAGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 496 165 0.991162070763104 1 0.995581035381552 NA NA 0.998333480247139 0.816324165190363 NA NA -0.00717140948403461 0.183675834809637 NA 0.907328822718751 NA 0.0882522126628014 NA FALSE NA 0 0.76 . splice_region_variant&intron_variant LOW APBA2 HGNC 579 ENST00000558259 8/13 rs375835399 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0002 A:0 CGT G,A 8.236e-05 15:29098583 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 splice_region_variant 0.381262 0.16239 0.00678 0.053691 0.430851909026523 0.0859863 0.0735269721652979 FALSE 7.31333e-05 ENSE00000672839_028 ENSE00000672839 028 15 29390646 29390815 + 47 87 36 A G 29390791 193 146 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAGGACAGTTGTTCAAAATCAGGTAAA 29098442 29098612 29098587 29098588 29098588 downstr_intron 12 1.34285714285714 TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAGGACAGTTGTTCAAAATCAGGTAAA TTCCGAGTTGGTTTTTGGACTTTAACAATATCCACTGTCCTTCTTAGAATTCTGAGGGGGATGCCCAGACGCTGACGGAAGTGGACCTCTTCATTTCCACCCAGAGGATCAAGGTTTTAAATGCAGACACGCAGGTAAGCGTTTAAGACAGTTGTTCAAAATCAGGTAAA mutant NA NA NA NA NA 327 518 0.990431079362856 0.999926497671103 0.995178788516979 NA NA 0.998333480247139 0.816324165190363 NA NA -0.0079024008842824 0.18360233248074 NA 0.907328822718751 NA 0.0878499657982287 NA FALSE NA 0 0.437 . intron_variant MODIFIER APBA2 HGNC 579 ENST00000558259 8/13 1 NA AAG A,G 8.236e-06 15:29098588 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003573619 intron_variant 0.104511 0.20866 0.00712 0.053691 0.512726607926233 0.0494705 0.0735269721652979 FALSE 4.06309e-06 ENSE00000673409_000 ENSE00000673409 000 X 99890133 99890302 - 42 75 53 NA NA NA NA NA AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 NA NA NA NA NA NA AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT natural NA NA NA NA NA 1619 1241 0.842815196637827 0.707367128825509 0.775091162731668 NA NA 0.842815196637827 0.707367128825509 NA NA 0 0 NA 0.775091162731668 NA 0 NA FALSE NA NA NA NA NA NA TSPAN6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN6 NA NA NA ENSG00000000003 ENSE00003654571 NA NA NA NA NA NA NA 0.0282021832612146 FALSE NA ENSE00000673409_001 ENSE00000673409 001 X 99890133 99890302 - 42 75 53 T C 99890143 806 160 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTGCATTTATCCT 100635135 100635305 100635145 100635146 100635146 downstr_intron 32 1.78048780487805 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTGCATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 400 60 1 1 1 NA NA 0.842815196637827 0.707367128825509 NA NA 0.157184803362173 0.292632871174491 NA 0.775091162731668 NA 0.224908837268332 NA FALSE NA 0.001 -0.814 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN6 HGNC 11858 ENST00000496771 3/5 1 NA GTA T,C 8.494e-06 X:100635146 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 intron_variant 0.201359 0.27201 0.0697 0 0.62850318572698 0.0501462 0.0282021832612146 FALSE 2.2963e-05 ENSE00000673409_003 ENSE00000673409 003 X 99890133 99890302 - 42 75 53 G A 99890202 808 101 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCTATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635204 100635205 100635205 exon -28 0.64 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCTATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 312 1186 0.994601482476943 0.932912153823954 0.963756818150448 NA NA 0.842815196637827 0.707367128825509 NA NA 0.151786285839116 0.225545024998445 NA 0.775091162731668 NA 0.18866565541878 NA FALSE NA 0.995 0.544 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN6 HGNC 11858 ENST00000496771 3/6 1 NA TGG G,A 3.329e-05 X:100635205 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 synonymous_variant 1.244283 0.92136 0.62381 0 0.675667581350308 0 0.0282021832612146 FALSE NA ENSE00000673409_005 ENSE00000673409 005 X 99890133 99890302 - 42 75 53 C T 99890207 810 96 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCACTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635209 100635210 100635210 exon -33 0.573333333333333 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCACTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 200 102 1 1 1 NA NA 0.842815196637827 0.707367128825509 NA NA 0.157184803362173 0.292632871174491 NA 0.775091162731668 NA 0.224908837268332 NA FALSE NA 1 5.535 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN6 HGNC 11858 ENST00000496771 3/6 rs200238785 1 NA GCG C,T 8.331e-06 X:100635210 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 missense_variant 6.493965 0.94945 0.87923 0 0.998227318117612 0 0.0282021832612146 FALSE NA ENSE00000673409_006 ENSE00000673409 006 X 99890133 99890302 - 42 75 53 G A 99890208 811 95 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTTGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635210 100635211 100635211 exon -34 0.56 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTTGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 144 105 1 1 1 NA NA 0.842815196637827 0.707367128825509 NA NA 0.157184803362173 0.292632871174491 NA 0.775091162731668 NA 0.224908837268332 NA FALSE NA 0.119 -0.56 rs146592098 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN6 HGNC 11858 ENST00000496771 3/6 rs146592098 1 NA A:0 A:0.0001 CGA G,A 8.327e-06 X:100635211 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 synonymous_variant 1.683297 0.89759 0.16845 0 0.667244930838102 0 0.0282021832612146 FALSE NA ENSE00000673409_007 ENSE00000673409 007 X 99890133 99890302 - 42 75 53 C T 99890210 812 93 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGATCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635212 100635213 100635213 exon -36 0.533333333333333 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGATCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 157 17 1 1 1 NA NA 0.842815196637827 0.707367128825509 NA NA 0.157184803362173 0.292632871174491 NA 0.775091162731668 NA 0.224908837268332 NA FALSE NA 1 4.462 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN6 HGNC 11858 ENST00000496771 3/6 1 NA ACC C,T 8.325e-06 X:100635213 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 missense_variant 2.466935 0.95766 0.89068 0 0.991148638250333 0 0.0282021832612146 FALSE NA ENSE00000673409_008 ENSE00000673409 008 X 99890133 99890302 - 42 75 53 G A 99890217 813 86 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTTGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635219 100635220 100635220 exon 33 0.44 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTTGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 593 720 1 1 1 NA NA 0.842815196637827 0.707367128825509 NA NA 0.157184803362173 0.292632871174491 NA 0.775091162731668 NA 0.224908837268332 NA FALSE NA 0.006 -1.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:100635220 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 synonymous_variant 1.612289 0.29383 0.0478 0 0.690357942732611 0 0.0282021832612146 FALSE NA ENSE00000673409_009 ENSE00000673409 009 X 99890133 99890302 - 42 75 53 G T 99890217 814 86 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTAGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635219 100635220 100635220 exon 33 0.44 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTAGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 122 84 0.983383414125986 0.950779131280503 0.967081272703245 NA NA 0.842815196637827 0.707367128825509 NA NA 0.140568217488159 0.243412002454994 NA 0.775091162731668 NA 0.191990109971577 NA FALSE NA 0.006 -1.055 NA NA NA TSPAN6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN6 NA NA NA ENSG00000000003 ENSE00003654571 synonymous_variant 1.302269 0.30539 0.09444 0 0.707825137951451 0 0.0282021832612146 FALSE NA ENSE00000673409_010 ENSE00000673409 010 X 99890133 99890302 - 42 75 53 A G 99890226 815 77 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTCTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635228 100635229 100635229 exon 24 0.32 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTCTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 360 476 0.999197035395399 1 0.999598517697699 NA NA 0.842815196637827 0.707367128825509 NA NA 0.156381838757571 0.292632871174491 NA 0.775091162731668 NA 0.224507354966031 NA FALSE NA 0.97 0.515 rs141301339 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN6 HGNC 11858 ENST00000496771 3/6 rs141301339 1 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0021 G:0 AAA A,G 0.0002165 X:100635229 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 synonymous_variant 0.328625 0.91849 0.51874 0 0.752726138206662 0 0.0282021832612146 FALSE 0.000236703 ENSE00000673409_011 ENSE00000673409 011 X 99890133 99890302 - 42 75 53 A C 99890238 816 65 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTGCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635240 100635241 100635241 exon 12 0.16 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTGCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 436 143 0.821051604009753 0.999465955037558 0.910258779523656 NA NA 0.842815196637827 0.707367128825509 NA NA -0.021763592628074 0.29209882621205 NA 0.775091162731668 NA 0.135167616791988 NA FALSE NA 1 2.125 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:100635241 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 missense_variant 2.659228 0.92399 0.75561 0 0.991358938330265 0 0.0282021832612146 FALSE 6.45803e-06 ENSE00000673409_012 ENSE00000673409 012 X 99890133 99890302 - 42 75 53 A G 99890238 817 65 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTCCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635240 100635241 100635241 exon 12 0.16 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTCCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 1082 162 0.998865043500766 0.999022493123478 0.998943768312122 NA NA 0.842815196637827 0.707367128825509 NA NA 0.156049846862939 0.291655364297969 NA 0.775091162731668 NA 0.223852605580454 NA FALSE NA 1 2.125 NA NA NA TSPAN6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN6 NA NA NA ENSG00000000003 ENSE00003654571 synonymous_variant 0.07138 0.91988 0.60654 0 0.754209646111954 0 0.0282021832612146 FALSE 6.45803e-06 ENSE00000673409_013 ENSE00000673409 013 X 99890133 99890302 - 42 75 53 C T 99890253 818 50 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTACAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635255 100635256 100635256 upstr_intron -4 -0.0566037735849057 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTACAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 813 73 0.995826285587429 0.971032615060767 0.983429450324098 NA NA 0.842815196637827 0.707367128825509 NA NA 0.153011088949601 0.263665486235258 NA 0.775091162731668 NA 0.20833828759243 NA FALSE NA 0 -3.173 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TSPAN6 HGNC 11858 ENST00000496771 2/5 1 NA GCA C,T 8.384e-06 X:100635256 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 splice_region_variant 0.290912 0.18536 0.0291 0 0.696866415149568 0.13133 0.0282021832612146 FALSE NA ENSE00000673409_014 ENSE00000673409 014 X 99890133 99890302 - 42 75 53 G A 99890261 819 42 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTTTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 100635263 100635264 100635264 upstr_intron -12 -0.207547169811321 AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTTTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT mutant NA NA NA NA NA 36 537 1 1 1 NA NA 0.842815196637827 0.707367128825509 NA NA 0.157184803362173 0.292632871174491 NA 0.775091162731668 NA 0.224908837268332 NA FALSE NA 0.972 1.573 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN6 HGNC 11858 ENST00000496771 2/5 1 NA AGA G,A 8.414e-06 X:100635264 TSPAN6 HGNC Symbol protein_coding 12882 ENSG00000000003 ENSE00003654571 intron_variant 0.285867 0.2314 0.01194 0 0.688468678128603 0.118559 0.0282021832612146 FALSE 6.8798e-06 ENSE00000673409_BRK ENSE00000673409 BRK X 99890133 99890302 - 42 75 53 A,G; T,T NA NA NA AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCTTTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGCCAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT 100635135 100635305 NA NA NA NA NA NA AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCTTTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGCCAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT AGTTGTGCTATATCTTATTTATGCTGACTTGGACTTTCTTTCTTATCCTGCAGTATGCAATGTTTCTGACTCTCGTTTTTTTGGTCGAACTGGTCGCTGCCATCGTAGGATTTGTTTTCAGACATGAGGTAAGCCTGAATTAGGGAAGCTTAGCATGTTACATTTATCCT control NA NA NA NA NA 25 825 0 0 0 NA NA 0.842815196637827 0.707367128825509 NA NA -0.842815196637827 -0.707367128825509 NA 0.775091162731668 NA -0.775091162731668 NA TRUE NA NA NA NA NA NA TSPAN6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN6 NA NA NA ENSG00000000003 ENSE00003654571 NA NA NA NA NA NA NA 0.0282021832612146 FALSE NA ENSE00000673517_000 ENSE00000673517 000 15 33822740 33822909 + 53 75 42 NA NA NA NA NA CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 NA NA NA NA NA NA CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG natural 52 52 0.99950538671547 0.971284825585535 0.985395106150503 1947 2530 0.938366124496408 0.822310082516628 0.880338103506518 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 0 0 0 0 0.985395106150503 0.880338103506518 0 0 0 FALSE FALSE NA NA NA NA NA RYR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RYR3 NA NA NA ENSG00000198838 ENSE00000673517 NA NA NA NA NA NA NA 0.999999945238815 TRUE NA ENSE00000673517_001 ENSE00000673517 001 15 33822740 33822909 + 53 75 42 A G 33822754 224 15 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGCTGTGGCTTCTCCGG 33530538 33530708 33530552 33530553 33530553 upstr_intron -39 -0.716981132075472 CCGGAGAAGCCACAGCGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 194 152 1 1 1 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.119661896493482 NA FALSE NA 0 -0.674 . intron_variant MODIFIER RYR3 HGNC 10485 ENST00000389232 3/103 1 NA AAC A,G 2.482e-05 15:33530553 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 intron_variant -0.156908 0.17873 0.02626 0.06567 0.184898432817143 0.0641209 0.999999945238815 TRUE 2.09258e-05 ENSE00000673517_002 ENSE00000673517 002 15 33822740 33822909 + 53 75 42 C T 33822755 225 16 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCATTGTGGCTTCTCCGG 33530538 33530708 33530553 33530554 33530554 upstr_intron -38 -0.69811320754717 CCGGAGAAGCCACAATGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 609 45 0.999186261501453 0.956963640043398 0.978074950772425 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0608201370050447 0.134653557526771 0.985395106150503 0.880338103506518 NA 0.0977368472659077 NA FALSE NA 0 -0.091 . intron_variant MODIFIER RYR3 HGNC 10485 ENST00000389232 3/103 1 NA ACG C,T 0.0001655 15:33530554 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 intron_variant -0.151998 0.25507 0.03043 0.06567 0.3931488562708 0.0641209 0.999999945238815 TRUE 0.000285036 ENSE00000673517_003 ENSE00000673517 003 15 33822740 33822909 + 53 75 42 G A 33822756 226 17 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCTGTTGTGGCTTCTCCGG 33530538 33530708 33530554 33530555 33530555 upstr_intron -37 -0.679245283018868 CCGGAGAAGCCACAACAGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant 15 16 1 1 1 217 343 1 1 1 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 0.000494613284529821 0.0287151744144647 0.0616338755035921 0.177689917483372 0.985395106150503 0.880338103506518 0.0146048938494973 0.119661896493482 0.105057002643985 FALSE FALSE 0 -0.767 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:33530555 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 intron_variant -0.212316 0.33269 0.01753 0.06567 0.400050852329495 0.0641209 0.999999945238815 TRUE 2.92393e-05 ENSE00000673517_004 ENSE00000673517 004 15 33822740 33822909 + 53 75 42 G T 33822756 227 17 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCAGTTGTGGCTTCTCCGG 33530538 33530708 33530554 33530555 33530555 upstr_intron -37 -0.679245283018868 CCGGAGAAGCCACAACTGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 481 102 0.998082922208841 1 0.999041461104421 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0597167977124335 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.118703357597903 NA FALSE NA 0 -0.767 NA NA NA RYR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RYR3 NA NA NA ENSG00000198838 ENSE00000673517 intron_variant -0.489093 0.14116 0.00335 0.06567 0.413138050139591 0.0641209 0.999999945238815 TRUE 1.25311e-05 ENSE00000673517_005 ENSE00000673517 005 15 33822740 33822909 + 53 75 42 G A 33822758 228 19 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGTCCGTTGTGGCTTCTCCGG 33530538 33530708 33530556 33530557 33530557 upstr_intron -35 -0.641509433962264 CCGGAGAAGCCACAACGGACATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 19 613 1 0.998051906169672 0.999025953084836 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.175741823653044 0.985395106150503 0.880338103506518 NA 0.118687849578318 NA FALSE NA 0 0.086 . intron_variant MODIFIER RYR3 HGNC 10485 ENST00000389232 3/103 1 NA GGC G,A 1.655e-05 15:33530557 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 intron_variant -0.261661 0.26975 0.02963 0.06567 0.403043859111599 0.105229 0.999999945238815 TRUE NA ENSE00000673517_008 ENSE00000673517 008 15 33822740 33822909 + 53 75 42 T C 33822774 231 35 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAGTAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530572 33530573 33530573 upstr_intron -19 -0.339622641509434 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTACTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 511 1257 0.980477324557087 0.99775562436937 0.989116474463228 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0421112000606789 0.175445541852742 0.985395106150503 0.880338103506518 NA 0.108778370956711 NA FALSE NA 0.003 0.842 rs140768412 intron_variant MODIFIER RYR3 HGNC 10485 ENST00000389232 3/103 rs140768412 1 C:0.0008 C:0.0023 C:0.0014 NA C:0 C:0 C:0 C:0.0041 C:0 ATT T,C 0.000364 15:33530573 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 intron_variant -0.688166 0.26012 0.03856 0.06567 0.264443166559775 0.0648037 0.999999945238815 TRUE 0.000306606 ENSE00000673517_009 ENSE00000673517 009 15 33822740 33822909 + 53 75 42 C A 33822776 232 37 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAATAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530574 33530575 33530575 upstr_intron -17 -0.30188679245283 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTATTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 61 764 1 0.99940000048405 0.999700000242025 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.177089917967423 0.985395106150503 0.880338103506518 NA 0.119361896735507 NA FALSE NA 0 0.511 . intron_variant MODIFIER RYR3 HGNC 10485 ENST00000389232 3/103 1 NA TCT C,A 1.655e-05 15:33530575 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 intron_variant 0.03997 0.45997 0.12185 0.06567 0.485067896402304 0.549743 0.999999945238815 TRUE 4.08687e-06 ENSE00000673517_010 ENSE00000673517 010 15 33822740 33822909 + 53 75 42 T C 33822781 233 42 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGGGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530579 33530580 33530580 upstr_intron -12 -0.207547169811321 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCCCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 89 169 0.977293682476362 0.799588864038944 0.888441273257653 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0389275579799536 -0.0227212184776837 0.985395106150503 0.880338103506518 NA 0.00810316975113495 NA FALSE NA 0.044 2.004 . intron_variant MODIFIER RYR3 HGNC 10485 ENST00000389232 3/103 rs375322559 1 NA C:0 C:0.0014 CTC T,C 0.0006122 15:33530580 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 intron_variant 0.144661 0.35412 0.26083 0.06567 0.570557669568053 0.172492 0.999999945238815 TRUE 0.000510192 ENSE00000673517_011 ENSE00000673517 011 15 33822740 33822909 + 53 75 42 C G 33822786 234 47 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGCAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530584 33530585 33530585 upstr_intron -7 -0.113207547169811 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTGCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 473 194 0.994112327633641 0.992178748073817 0.993145537853729 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.055746203137233 0.169868665557189 0.985395106150503 0.880338103506518 NA 0.112807434347211 NA FALSE NA 0.358 1.033 rs2304386 splice_region_variant&intron_variant LOW RYR3 HGNC 10485 ENST00000389232 3/103 rs2304386 1 G:0.0094 G:0 G:0 NA G:0.0456 G:0 G:0.001 G:0.0003 G:0.0005 TCC C,G 0.004029 15:33530585 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 splice_region_variant 0.364582 0.58159 0.79585 0.06567 0.567037711817296 0.273734 0.999999945238815 TRUE 0.00381315 ENSE00000673517_012 ENSE00000673517 012 15 33822740 33822909 + 53 75 42 C T 33822788 235 49 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTAGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530586 33530587 33530587 upstr_intron -5 -0.0754716981132075 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCTACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 826 1147 0.999850436877975 0.993640585620366 0.996745511249171 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0614843123815676 0.171330503103738 0.985395106150503 0.880338103506518 NA 0.116407407742653 NA FALSE NA 0.377 0.898 . splice_region_variant&intron_variant LOW RYR3 HGNC 10485 ENST00000389232 3/103 1 NA CCA C,T 8.273e-06 15:33530587 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 splice_region_variant 0.674831 0.71557 0.66614 0.06567 0.535610002019607 0.290105 0.999999945238815 TRUE 1.2232e-05 ENSE00000673517_013 ENSE00000673517 013 15 33822740 33822909 + 53 75 42 G T 33822793 236 54 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGACTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530591 33530592 33530592 exon 1 0.0133333333333333 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGTCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 611 20 1 1 1 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.119661896493482 NA FALSE NA 1 5.251 . missense_variant&splice_region_variant MODERATE RYR3 HGNC 10485 ENST00000389232 4/104 COSM470498 1 benign(0.364) NA GGC G,T 8.273e-06 15:33530592 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 missense_variant 1.616017 0.98931 0.94989 0.553676 0.471770529846352 0 0.999999945238815 TRUE 4.07468e-06 ENSE00000673517_014 ENSE00000673517 014 15 33822740 33822909 + 53 75 42 A G 33822795 237 56 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCCGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530593 33530594 33530594 exon 3 0.04 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCGGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 1441 228 0.997021371128382 0.997971516479104 0.997496443803743 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.058655246631974 0.175661433962476 0.985395106150503 0.880338103506518 NA 0.117158340297225 NA FALSE NA 0.935 0.06 . splice_region_variant&synonymous_variant LOW RYR3 HGNC 10485 ENST00000389232 4/104 1 NA CAG A,G 8.273e-06 15:33530594 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 splice_region_variant 1.728002 0.93423 0.56324 0.553676 0.809670090598029 0 0.999999945238815 TRUE NA ENSE00000673517_015 ENSE00000673517 015 15 33822740 33822909 + 53 75 42 A G 33822798 238 59 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGCGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530596 33530597 33530597 exon 6 0.08 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCGCAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant 33 33 0.872886964865412 0.970544789243212 0.921715877054312 NA NA NA NA NA 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 -0.126618421850059 -0.000740036342323225 NA NA 0.985395106150503 0.880338103506518 -0.0636792290961909 NA NA NA FALSE 0.897 0.147 . synonymous_variant LOW RYR3 HGNC 10485 ENST00000389232 4/104 1 NA CAC A,G 3.309e-05 15:33530597 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 synonymous_variant 0.537076 0.96193 0.62415 0.553676 0.681837302589898 0 0.999999945238815 TRUE 1.62884e-05 ENSE00000673517_016 ENSE00000673517 016 15 33822740 33822909 + 53 75 42 A G 33822800 239 61 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTCGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530598 33530599 33530599 exon 8 0.106666666666667 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACGAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 371 456 0.987751007386902 0.991358332054144 0.989554669720523 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0493848828904939 0.169048249537517 0.985395106150503 0.880338103506518 NA 0.109216566214005 NA FALSE NA 1 6.863 . missense_variant MODERATE RYR3 HGNC 10485 ENST00000389232 4/104 1 benign(0.243) NA CAA A,G 8.273e-06 15:33530599 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 missense_variant 2.782666 0.98995 0.96628 0.553676 0.998327035408392 0 0.999999945238815 TRUE 2.85012e-05 ENSE00000673517_017 ENSE00000673517 017 15 33822740 33822909 + 53 75 42 A G 33822801 240 62 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCCTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530599 33530600 33530600 exon 9 0.12 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAGGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 1054 112 0.993621624820343 0.981829906352287 0.987725765586315 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0552555003239347 0.159519823835659 0.985395106150503 0.880338103506518 NA 0.107387662079797 NA FALSE NA 1 1.712 . synonymous_variant LOW RYR3 HGNC 10485 ENST00000389232 4/104 1 NA AAG A,G 4.136e-05 15:33530600 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 synonymous_variant -0.062825 0.97525 0.73983 0.553676 0.456824707897597 0 0.999999945238815 TRUE 6.51466e-05 ENSE00000673517_018 ENSE00000673517 018 15 33822740 33822909 + 53 75 42 G A 33822815 241 76 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCTTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530613 33530614 33530614 exon 23 0.306666666666667 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAAGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 716 80 0.902329576987415 1 0.951164788493707 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA -0.0360365475089933 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.0708266849871895 NA FALSE NA 1 5.819 . missense_variant MODERATE RYR3 HGNC 10485 ENST00000389232 4/104 COSM1224505 1 benign(0.055) NA AGG G,A 8.272e-06 15:33530614 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 missense_variant 2.860378 0.98939 0.953 0.553676 0.988632366486907 0 0.999999945238815 TRUE 4.06914e-06 ENSE00000673517_019 ENSE00000673517 019 15 33822740 33822909 + 53 75 42 A G 33822825 242 86 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTACAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530623 33530624 33530624 exon 33 0.44 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTGTACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 387 208 1 0.99212779102377 0.996063895511885 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.169817708507143 0.985395106150503 0.880338103506518 NA 0.115725792005367 NA FALSE NA 0 -3.337 . synonymous_variant LOW RYR3 HGNC 10485 ENST00000389232 4/104 1 NA TAT A,G 8.272e-06 15:33530624 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 synonymous_variant 0.768402 0.21276 0.03338 0.553676 0.548542063475227 0 0.999999945238815 TRUE 4.06835e-06 ENSE00000673517_020 ENSE00000673517 020 15 33822740 33822909 + 53 75 42 T C 33822826 243 87 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTGTAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530624 33530625 33530625 exon 34 0.453333333333333 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTACACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 128 536 1 1 1 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.119661896493482 NA FALSE NA 1 5.924 . missense_variant MODERATE RYR3 HGNC 10485 ENST00000389232 4/104 1 possibly_damaging(0.827) NA ATA T,C 8.272e-06 15:33530625 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 missense_variant 5.274801 0.95857 0.89628 0.553676 0.998168404425892 0 0.999999945238815 TRUE NA ENSE00000673517_021 ENSE00000673517 021 15 33822740 33822909 + 53 75 42 C T 33822828 244 89 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCATATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530626 33530627 33530627 exon 36 0.48 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATATGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 207 79 0.993459240301509 0.936683705286553 0.965071472794031 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0550931158051007 0.114373622769925 0.985395106150503 0.880338103506518 NA 0.0847333692875128 NA FALSE NA 0.006 -0.954 . synonymous_variant LOW RYR3 HGNC 10485 ENST00000389232 4/104 rs537373426 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACG C,T 9.926e-05 15:33530627 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 synonymous_variant 1.438794 0.87842 0.04844 0.553676 0.537495576641949 0 0.999999945238815 TRUE 8.95415e-05 ENSE00000673517_022 ENSE00000673517 022 15 33822740 33822909 + 53 75 42 A G 33822833 245 94 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCACGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530631 33530632 33530632 exon -35 0.546666666666667 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCGTGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 101 216 1 1 1 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.119661896493482 NA FALSE NA 1 8.856 . missense_variant MODERATE RYR3 HGNC 10485 ENST00000389232 4/104 1 possibly_damaging(0.77) NA CAT A,G 8.272e-06 15:33530632 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 missense_variant 5.384675 0.97265 0.95769 0.487112 0.998209281852402 0 0.999999945238815 TRUE 1.2205e-05 ENSE00000673517_023 ENSE00000673517 023 15 33822740 33822909 + 53 75 42 G A 33822838 246 99 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAATTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530636 33530637 33530637 exon -30 0.613333333333333 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAATTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant 22 11 0.989139842781006 0.98024609696751 0.984692969874258 41 444 1 1 1 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 -0.0103655439344645 0.00896127138197511 0.0616338755035921 0.177689917483372 0.985395106150503 0.880338103506518 -0.000702136276244714 0.119661896493482 0.120364032769727 FALSE FALSE 0.998 3.365 . missense_variant MODERATE RYR3 HGNC 10485 ENST00000389232 4/104 COSM960515&COSM554729 1 benign(0.004) NA AGT G,A 8.272e-06 15:33530637 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 missense_variant 0.186839 0.90127 0.2624 0.487112 0.405389588064049 0 0.999999945238815 TRUE 1.22079e-05 ENSE00000673517_024 ENSE00000673517 024 15 33822740 33822909 + 53 75 42 C G 33822841 247 102 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGACAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530639 33530640 33530640 exon -27 0.653333333333333 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTGTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 746 147 0.998310097782022 1 0.999155048891011 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0599439732856137 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.118816945384493 NA FALSE NA 1 5.55 . missense_variant MODERATE RYR3 HGNC 10485 ENST00000389232 4/104 1 possibly_damaging(0.866) NA TCT C,G 8.272e-06 15:33530640 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 missense_variant 5.824848 0.96722 0.92223 0.487112 0.998630846584746 0 0.999999945238815 TRUE 4.06941e-06 ENSE00000673517_025 ENSE00000673517 025 15 33822740 33822909 + 53 75 42 C T 33822852 248 113 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCGCTGAAAGAATGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530650 33530651 33530651 exon -16 0.8 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCATTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 259 378 1 1 1 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.119661896493482 NA FALSE NA 1 1.873 . synonymous_variant LOW RYR3 HGNC 10485 ENST00000389232 4/104 rs371821413 1 NA T:0.0003 T:0 ACT C,T 8.273e-06 15:33530651 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 synonymous_variant 1.299127 0.92795 0.61307 0.679555 0.643392826089077 0 0.999999945238815 TRUE 4.07143e-06 ENSE00000673517_027 ENSE00000673517 027 15 33822740 33822909 + 53 75 42 C T 33822861 250 122 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCCACTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530659 33530660 33530660 exon -7 0.92 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGTGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 306 791 1 0.97528984669173 0.987644923345865 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.152979764175103 0.985395106150503 0.880338103506518 NA 0.107306819839347 NA FALSE NA 0.001 -1.246 . synonymous_variant LOW RYR3 HGNC 10485 ENST00000389232 4/104 rs374563732 1 NA T:0.0005 T:0 GCG C,T 8.274e-06 15:33530660 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 synonymous_variant 2.313571 0.6669 0.05407 0.679555 0.634352246415258 0 0.999999945238815 TRUE 2.85269e-05 ENSE00000673517_028 ENSE00000673517 028 15 33822740 33822909 + 53 75 42 G A 33822862 251 123 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCTGCTTACCATTCTGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530660 33530661 33530661 exon -6 0.933333333333333 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCAGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 127 198 0.98627339634555 1 0.993136698172775 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0479072718491418 0.177689917483372 0.985395106150503 0.880338103506518 NA 0.112798594666257 NA FALSE NA 0.981 1.823 . missense_variant MODERATE RYR3 HGNC 10485 ENST00000389232 4/104 rs368972337&COSM1264753 1 benign(0.013) NA A:0 A:0.0002 CGG G,A 3.31e-05 15:33530661 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 missense_variant 2.633916 0.8114 0.69172 0.679555 0.941437283022431 0 0.999999945238815 TRUE 5.30011e-05 ENSE00000673517_029 ENSE00000673517 029 15 33822740 33822909 + 53 75 42 A C 33822874 252 135 CCTTCTCCTTGAATGATGAAAGTGGGCACCAGAGCGGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530672 33530673 33530673 downstr_intron 7 1.17073170731707 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCCGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant 12 31 0.944079467603622 0.950758948766261 0.947419208184942 514 194 0.962428865651867 0.938986314339041 0.950707589995454 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 -0.0554259191118479 -0.020525876819274 0.0240627411554587 0.116676231822413 0.985395106150503 0.880338103506518 -0.0379758979655609 0.070369486488936 0.108345384454497 FALSE FALSE 0 0.11 . splice_region_variant&intron_variant LOW RYR3 HGNC 10485 ENST00000389232 4/103 1 NA CAG A,C 8.275e-06 15:33530673 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 splice_region_variant 0.11411 0.24362 0.09498 0.061011 0.516840983912027 0.204797 0.999999945238815 TRUE 4.0813e-06 ENSE00000673517_030 ENSE00000673517 030 15 33822740 33822909 + 53 75 42 G C 33822881 253 142 CCTTCTCCTTGAATGATGAAAGTGGGCAGCAGAGCTGCTTACCATTCCGCTGAAAGAGTGCCTCAGGAGAACTGCATGGCCGTATAACAGGGTCCTGTGGCCACCTCCTTGTGCTGCCTGTGGGAATGAGGAAGAATAAGGTCAGCACATGCCCGTTGTGGCTTCTCCGG 33530538 33530708 33530679 33530680 33530680 downstr_intron 14 1.34146341463415 CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGCTGCCCACTTTCATCATTCAAGGAGAAGG CCGGAGAAGCCACAACGGGCATGTGCTGACCTTATTCTTCCTCATTCCCACAGGCAGCACAAGGAGGTGGCCACAGGACCCTGTTATACGGCCATGCAGTTCTCCTGAGGCACTCTTTCAGCGGAATGGTAAGCAGCTCTGGTGCCCACTTTCATCATTCAAGGAGAAGG mutant NA NA NA NA NA 386 426 1 0.995969835231843 0.997984917615921 0.99950538671547 0.971284825585535 0.938366124496408 0.822310082516628 NA NA 0.0616338755035921 0.173659752715215 0.985395106150503 0.880338103506518 NA 0.117646814109404 NA FALSE NA 0 -1.842 . intron_variant MODIFIER RYR3 HGNC 10485 ENST00000389232 4/103 1 NA GGT G,C 8.275e-06 15:33530680 RYR3 HGNC Symbol protein_coding 555176 ENSG00000198838 ENSE00000673517 intron_variant -0.473382 0.22373 0.06055 0.061011 0.344704451162259 0.0600955 0.999999945238815 TRUE 4.08921e-06 ENSE00000674110_000 ENSE00000674110 000 7 26223273 26223442 + 48 84 38 NA NA NA NA NA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 NA NA NA NA NA NA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA natural 16 26 0.999461578903647 0.996341730253406 0.997901654578526 863 1887 0.882750189185604 0.886611534264803 0.884680861725203 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 0 0 0 0 0.997901654578526 0.884680861725203 0 0 0 FALSE FALSE NA NA NA NA NA NFE2L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFE2L3 NA NA NA ENSG00000050344 ENSE00000674110 NA NA NA NA NA NA NA 1.09962052794343e-07 FALSE NA ENSE00000674110_001 ENSE00000674110 001 7 26223273 26223442 + 48 84 38 A G 26223294 723 22 CAGTTCAGTCTTTTATGTGAAGGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183673 26183674 26183674 upstr_intron -27 -0.541666666666667 CAGTTCAGTCTTTTATGTGAAGGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 379 290 0.996360668125351 0.999454255961965 0.997907462043658 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.113610478939747 0.112842721697162 0.997901654578526 0.884680861725203 NA 0.113226600318455 NA FALSE NA 0 -0.687 rs12113404 upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 rs12113404 1 G:0.3476 G:0.497 G:0.2507 NA G:0.5466 G:0.1213 G:0.2423 G:0.4394 G:0.1005 AAG G,G 0.207 7:26183674 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 intron_variant -0.246778 0.08943 0.00016 0.069865 0.616201592788886 0.104825 1.09962052794343e-07 FALSE 0.204932 ENSE00000674110_005 ENSE00000674110 005 7 26223273 26223442 + 48 84 38 G A 26223307 727 35 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTATGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183686 26183687 26183687 upstr_intron -14 -0.270833333333333 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTATGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 12 58 0.95 1 0.975 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.0672498108143958 0.113388465735197 0.997901654578526 0.884680861725203 NA 0.0903191382747965 NA FALSE NA 0.002 -1.894 NA NA NA NFE2L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:26183687 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 intron_variant 0.059283 0.1743 0.00045 0.069865 0.599347092737514 0.204588 1.09962052794343e-07 FALSE 4.08851e-06 ENSE00000674110_007 ENSE00000674110 007 7 26223273 26223442 + 48 84 38 T A 26223312 729 40 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTACTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183691 26183692 26183692 upstr_intron -9 -0.166666666666667 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTACTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 246 40 0.802116964967067 0.8 0.801058482483533 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA -0.0806332242185372 -0.0866115342648027 0.997901654578526 0.884680861725203 NA -0.08362237924167 NA FALSE NA 0 0.3 rs139404033 upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 rs139404033 1 A:0.0030 A:0.0098 A:0.0029 NA A:0 A:0 A:0 A:0.0075 A:0 TTC T,A 0.0007331 7:26183692 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 intron_variant 0.594591 0.18282 0.00295 0.069865 0.759619235888744 0.36904 1.09962052794343e-07 FALSE 0.000537359 ENSE00000674110_009 ENSE00000674110 009 7 26223273 26223442 + 48 84 38 G C 26223322 731 50 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGACACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183701 26183702 26183702 exon 2 0.0238095238095238 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGACACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 45 1864 0.975263363541576 0.995421256183818 0.985342309862697 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.0925131743559716 0.108809721919016 0.997901654578526 0.884680861725203 NA 0.100661448137494 NA FALSE NA 0.131 0.221 rs138946209 upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA AGA G,C 8.236e-06 7:26183702 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant 0.659148 0.24458 0.00424 0.634777 0.87269678307109 0 1.09962052794343e-07 FALSE 2.03302e-05 ENSE00000674110_011 ENSE00000674110 011 7 26223273 26223442 + 48 84 38 A G 26223325 733 53 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACGTCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183704 26183705 26183705 exon 5 0.0595238095238095 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACGTCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 231 172 1 0.99977843270811 0.999889216354055 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.117249810814396 0.113166898443307 0.997901654578526 0.884680861725203 NA 0.115208354628851 NA FALSE NA 0.009 2.006 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 rs201211553 1 NA CAT A,G 4.118e-05 7:26183705 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant 0.611346 0.20868 0.00385 0.634777 0.84913852626167 0 1.09962052794343e-07 FALSE 2.84488e-05 ENSE00000674110_012 ENSE00000674110 012 7 26223273 26223442 + 48 84 38 T A 26223326 734 54 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACAACTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183705 26183706 26183706 exon 6 0.0714285714285714 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACAACTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 80 66 1 1 1 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.117249810814396 0.113388465735197 0.997901654578526 0.884680861725203 NA 0.115319138274797 NA FALSE NA 0.005 0.291 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:26183706 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant 1.304918 0.19517 0.00286 0.634777 0.840075779765226 0 1.09962052794343e-07 FALSE 8.12889e-06 ENSE00000674110_013 ENSE00000674110 013 7 26223273 26223442 + 48 84 38 T C 26223326 735 54 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACACCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183705 26183706 26183706 exon 6 0.0714285714285714 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACACCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 1317 1321 0.950361454829605 0.956120042966915 0.95324074889826 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.0676112656440012 0.0695085087021122 0.997901654578526 0.884680861725203 NA 0.0685598871730567 NA FALSE NA 0.005 0.291 NA NA NA NFE2L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFE2L3 NA NA NA ENSG00000050344 ENSE00000674110 synonymous_variant -0.011589 0.18759 0.00124 0.634777 0.841406621334517 0 1.09962052794343e-07 FALSE 0 ENSE00000674110_015 ENSE00000674110 015 7 26223273 26223442 + 48 84 38 T C 26223341 737 69 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGACACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183720 26183721 26183721 exon 21 0.25 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGACACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 610 102 1 1 1 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.117249810814396 0.113388465735197 0.997901654578526 0.884680861725203 NA 0.115319138274797 NA FALSE NA 0 -1.431 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA ATA T,C 2.471e-05 7:26183721 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 synonymous_variant -9.1e-05 0.12374 0.00053 0.634777 0.733256378336297 0 1.09962052794343e-07 FALSE NA ENSE00000674110_017 ENSE00000674110 017 7 26223273 26223442 + 48 84 38 T A 26223345 739 73 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTACTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183724 26183725 26183725 exon 25 0.297619047619048 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTACTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 30 1060 1 0.999964089408545 0.999982044704272 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.117249810814396 0.113352555143742 0.997901654578526 0.884680861725203 NA 0.115301182979069 NA FALSE NA 0 -0.797 NA NA NA NFE2L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:26183725 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant -0.255879 0.12566 0.00119 0.634777 0.795104202045173 0 1.09962052794343e-07 FALSE 4.06319e-06 ENSE00000674110_019 ENSE00000674110 019 7 26223273 26223442 + 48 84 38 T C 26223351 741 79 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCCCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183730 26183731 26183731 exon 31 0.369047619047619 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCCCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 760 148 0.955861060059454 0.949835502830826 0.95284828144514 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.07311087087385 0.0632239685660232 0.997901654578526 0.884680861725203 NA 0.0681674197199366 NA FALSE NA 0.031 2.011 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA CTC T,C 8.236e-06 7:26183731 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant 4.564731 0.87481 0.00868 0.634777 0.998041482072202 0 1.09962052794343e-07 FALSE 4.06286e-06 ENSE00000674110_020 ENSE00000674110 020 7 26223273 26223442 + 48 84 38 A G 26223359 742 87 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAGGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183738 26183739 26183739 exon 39 0.464285714285714 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAGGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 130 1434 1 0.999543653708229 0.999771826854114 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.117249810814396 0.112932119443426 0.997901654578526 0.884680861725203 NA 0.115090965128911 NA FALSE NA 0.999 0.429 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA AAG A,G 8.237e-06 7:26183739 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 synonymous_variant 1.161387 0.86229 0.01301 0.634777 0.848095609391952 0 1.09962052794343e-07 FALSE 4.06256e-06 ENSE00000674110_021 ENSE00000674110 021 7 26223273 26223442 + 48 84 38 T C 26223363 743 91 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACCTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183742 26183743 26183743 exon -42 0.511904761904762 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACCTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 391 95 0.946339042279135 0.998331571749038 0.972335307014086 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.0635888530935306 0.111720037484235 0.997901654578526 0.884680861725203 NA 0.0876544452888827 NA FALSE NA 0.006 0.597 rs138152769 upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 rs138152769 1 C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 CTT T,C 8.236e-05 7:26183743 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 synonymous_variant 0.975607 0.20528 0.00248 0.634777 0.745764200493714 0 1.09962052794343e-07 FALSE 6.90625e-05 ENSE00000674110_022 ENSE00000674110 022 7 26223273 26223442 + 48 84 38 T C 26223366 744 94 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTACTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183745 26183746 26183746 exon -39 0.547619047619048 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTACTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 604 34 0.815060386879696 1 0.907530193439848 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA -0.0676898023059077 0.113388465735197 0.997901654578526 0.884680861725203 NA 0.0228493317146448 NA FALSE NA 0.091 0.346 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA ATT T,C 1.647e-05 7:26183746 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant 0.228555 0.18697 0.00264 0.634777 0.826144723705667 0 1.09962052794343e-07 FALSE 2.03123e-05 ENSE00000674110_023 ENSE00000674110 023 7 26223273 26223442 + 48 84 38 A G 26223380 745 108 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCGTCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183759 26183760 26183760 exon -25 0.714285714285714 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCGTCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 1758 264 0.999976588514055 1 0.999988294257028 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.117226399328451 0.113388465735197 0.997901654578526 0.884680861725203 NA 0.115307432531824 NA FALSE NA 0.958 -0.023 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA CAT A,G 8.236e-06 7:26183760 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 synonymous_variant 1.532843 0.84193 0.01558 0.634777 0.797620272899225 0 1.09962052794343e-07 FALSE NA ENSE00000674110_024 ENSE00000674110 024 7 26223273 26223442 + 48 84 38 T C 26223381 746 109 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCACCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183760 26183761 26183761 exon -24 0.726190476190476 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCACCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 32 1761 1 0.991749008164542 0.995874504082271 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.117249810814396 0.105137473899739 0.997901654578526 0.884680861725203 NA 0.111193642357068 NA FALSE NA 1 2.946 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA ATC T,C 1.647e-05 7:26183761 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant 5.808773 0.87054 0.04254 0.634777 0.998037991236284 0 1.09962052794343e-07 FALSE 2.03117e-05 ENSE00000674110_028 ENSE00000674110 028 7 26223273 26223442 + 48 84 38 A G 26223408 750 136 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAGTTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183787 26183788 26183788 downstr_intron 4 1.10810810810811 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAGTTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 156 364 0.126195537744264 0.0904128384013316 0.108304188072798 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA -0.75655465144134 -0.796198695863471 0.997901654578526 0.884680861725203 NA -0.776376673652406 NA TRUE NA 0.994 3.616 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA AAT A,G 1.647e-05 7:26183788 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant 0.891543 0.87433 0.09605 0.092769 0.737936079725738 0 1.09962052794343e-07 FALSE 8.12572e-06 ENSE00000674110_029 ENSE00000674110 029 7 26223273 26223442 + 48 84 38 T C 26223409 751 137 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAACTGGAACTTTGGCTTTTATCCTCGCAGGAACATA 26183652 26183822 26183788 26183789 26183789 downstr_intron 5 1.13513513513514 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAACTGGAACTTTGGCTTTTATCCTCGCAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 170 57 0.983406746824789 0.997215188099832 0.990310967462311 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.100656557639185 0.11060365383503 0.997901654578526 0.884680861725203 NA 0.105630105737107 NA FALSE NA 0.001 -1.445 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 rs373681256 1 NA C:0 C:0.0001 ATT T,C 0.0001153 7:26183789 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant -0.585675 0.09931 0.00054 0.092769 0.431567118815755 0 1.09962052794343e-07 FALSE 0.000101576 ENSE00000674110_033 ENSE00000674110 033 7 26223273 26223442 + 48 84 38 G A 26223432 755 160 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCACAGGAACATA 26183652 26183822 26183811 26183812 26183812 downstr_intron 28 1.75675675675676 CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCACAGGAACATA CAGTTCAGTCTTTTATGTGAAAGATGCACTTTTTGTGTTTCTCTACAGAGACATCTGAATGGGACAGATACTTCTTTCTCTCTGGAAGACTTATTCCAGTTGCTTTCATCACAGCCTGAAAATTCACTGGAGGTAATTGGAACTTTGGCTTTTATCCTCGCAGGAACATA mutant NA NA NA NA NA 139 116 1 1 1 0.999461578903647 0.996341730253406 0.882750189185604 0.886611534264803 NA NA 0.117249810814396 0.113388465735197 0.997901654578526 0.884680861725203 NA 0.115319138274797 NA FALSE NA 0.001 0.148 . upstream_gene_variant MODIFIER NFE2L3 HGNC 7783 ENST00000606261 1 NA CGC G,A 1.647e-05 7:26183812 NFE2L3 HGNC Symbol protein_coding 34885 ENSG00000050344 ENSE00000674110 missense_variant 0.247747 0.11746 0.00047 0.069865 0.580921356471608 0 1.09962052794343e-07 FALSE 8.13233e-06 ENSE00000674635_000 ENSE00000674635 000 X 111024334 111024503 - 59 42 69 NA NA NA NA NA TCAGATGTTTGGGTGGGTAGGGTGCTGGGAGACTGCTGATGTAACATCTCTGTCTATTTTCAATTATAGGAACGCAATGCTGACAGCCTGATACAAAATCAACATTATCAGGTAAAGCTTCCTCACAGGGATGAAGCACAATAGTTGTTGGCTGGTTCTGTGGAGGAGAA 111781105 111781275 NA NA NA NA NA NA TCAGATGTTTGGGTGGGTAGGGTGCTGGGAGACTGCTGATGTAACATCTCTGTCTATTTTCAATTATAGGAACGCAATGCTGACAGCCTGATACAAAATCAACATTATCAGGTAAAGCTTCCTCACAGGGATGAAGCACAATAGTTGTTGGCTGGTTCTGTGGAGGAGAA TCAGATGTTTGGGTGGGTAGGGTGCTGGGAGACTGCTGATGTAACATCTCTGTCTATTTTCAATTATAGGAACGCAATGCTGACAGCCTGATACAAAATCAACATTATCAGGTAAAGCTTCCTCACAGGGATGAAGCACAATAGTTGTTGGCTGGTTCTGTGGAGGAGAA natural 20 21 0.998000656515046 0.997801821540141 0.997901239027593 1524 217 0.912185212473711 0.992277151710272 0.952231182091991 0.998000656515046 0.997801821540141 0.912185212473711 0.992277151710272 0 0 0 0 0.997901239027593 0.952231182091991 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00000674635 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000675516_000 ENSE00000675516 000 19 10103450 10103619 - 53 54 63 NA NA NA NA NA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA 9992773 9992943 NA NA NA NA NA NA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA natural 94 73 0.85 0.85 0.85 780 1562 0.818626465197726 0.671638616266193 0.745132540731959 0.85 0.85 0.818626465197726 0.671638616266193 0 0 0 0 0.85 0.745132540731959 0 0 0 FALSE FALSE NA NA NA NA NA CTD-2553C6.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA ENSG00000080573 ENSE00000675516 NA NA NA NA NA NA NA 7.11903366992312e-07 FALSE NA ENSE00000675516_004 ENSE00000675516 004 19 10103450 10103619 - 53 54 63 A G 10103485 846 135 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCCCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA 9992773 9992943 9992808 9992809 9992809 downstr_intron 18 1.34615384615385 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCCCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA mutant 348 832 0.842084246391774 0.864544163884234 0.853314205138004 NA NA NA NA NA 0.85 0.85 0.818626465197726 0.671638616266193 -0.00791575360822616 0.0145441638842341 NA NA 0.85 0.745132540731959 0.00331420513800396 NA NA NA FALSE 0.015 -0.126 . upstream_gene_variant MODIFIER CTD-2553C6.1 Clone_based_vega_gene NA ENST00000592332 1 NA GAG A,G 8.237e-06 19:9992809 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000675516 intron_variant 0.696117 0.14872 0.02167 0.078448 0.65050566257848 0.046875 7.11903366992312e-07 FALSE 8.13935e-06 ENSE00000675516_005 ENSE00000675516 005 19 10103450 10103619 - 53 54 63 G A 10103486 847 134 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTTTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA 9992773 9992943 9992809 9992810 9992810 downstr_intron 17 1.32692307692308 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTTTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA mutant 58 33 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.85 0.818626465197726 0.671638616266193 0 0 NA NA 0.85 0.745132540731959 0 NA NA NA FALSE 0 -0.909 . upstream_gene_variant MODIFIER CTD-2553C6.1 Clone_based_vega_gene NA ENST00000592332 1 NA AGA G,A 1.647e-05 19:9992810 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000675516 intron_variant 0.605103 0.10668 0.01748 0.078448 0.80752835327429 0.0490229 7.11903366992312e-07 FALSE 1.22073e-05 ENSE00000675516_006 ENSE00000675516 006 19 10103450 10103619 - 53 54 63 A G 10103491 848 129 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACCGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA 9992773 9992943 9992814 9992815 9992815 downstr_intron 12 1.23076923076923 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACCGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA mutant 43 18 0 0 0 NA NA NA NA NA 0.85 0.85 0.818626465197726 0.671638616266193 -0.85 -0.85 NA NA 0.85 0.745132540731959 -0.85 NA NA NA TRUE 0 -0.089 . upstream_gene_variant MODIFIER CTD-2553C6.1 Clone_based_vega_gene NA ENST00000592332 rs376644700 1 G:0.0018 G:0 G:0 NA G:0.0089 G:0 G:0 CAG A,G 0.0004036 19:9992815 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000675516 intron_variant 0.675998 0.12981 0.00859 0.053691 0.583381578470816 0.0490229 7.11903366992312e-07 FALSE 0.000382341 ENSE00000675516_015 ENSE00000675516 015 19 10103450 10103619 - 53 54 63 G A 10103525 857 95 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTTTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA 9992773 9992943 9992848 9992849 9992849 exon -23 0.592592592592593 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTTTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA mutant 11 90 0.79850796084426 0.85 0.82425398042213 NA NA NA NA NA 0.85 0.85 0.818626465197726 0.671638616266193 -0.0514920391557403 0 NA NA 0.85 0.745132540731959 -0.0257460195778701 NA NA NA FALSE 1 3.949 . upstream_gene_variant MODIFIER CTD-2553C6.1 Clone_based_vega_gene NA ENST00000592332 1 NA AGA G,A 2.471e-05 19:9992849 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000675516 missense_variant 2.174385 0.97995 0.9342 0.554377 0.938130278249446 0 7.11903366992312e-07 FALSE 2.84497e-05 ENSE00000675516_020 ENSE00000675516 020 19 10103450 10103619 - 53 54 63 C T 10103549 862 71 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACAAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA 9992773 9992943 9992872 9992873 9992873 exon 8 0.148148148148148 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACAAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA mutant NA NA NA NA NA 107 136 0.00281826772009159 0 0.00140913386004579 0.85 0.85 0.818626465197726 0.671638616266193 NA NA -0.815808197477634 -0.671638616266193 0.85 0.745132540731959 NA -0.743723406871913 NA TRUE NA 1 4.511 NA NA NA CTD-2553C6.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:9992873 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000675516 missense_variant 5.869958 0.9878 0.97049 0.554377 0.999466032217248 0 7.11903366992312e-07 FALSE 8.13365e-06 ENSE00000675516_021 ENSE00000675516 021 19 10103450 10103619 - 53 54 63 T A 10103558 863 62 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCTGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA 9992773 9992943 9992881 9992882 9992882 upstr_intron -2 -0.0158730158730159 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCTGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA mutant NA NA NA NA NA 40 110 0 0.00292230085258218 0.00146115042629109 0.85 0.85 0.818626465197726 0.671638616266193 NA NA -0.818626465197726 -0.66871631541361 0.85 0.745132540731959 NA -0.743671390305668 NA TRUE NA 1 6.01 . upstream_gene_variant MODIFIER CTD-2553C6.1 Clone_based_vega_gene NA ENST00000592332 1 NA CTG T,A 8.237e-06 19:9992882 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000675516 splice_acceptor_variant 4.248189 0.98345 0.98334 0.065574 0.991549825333626 0.787737 7.11903366992312e-07 FALSE 4.07e-06 ENSE00000675516_024 ENSE00000675516 024 19 10103450 10103619 - 53 54 63 C T 10103583 866 37 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTAGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA 9992773 9992943 9992906 9992907 9992907 upstr_intron -27 -0.412698412698413 ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTAGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA ACCCCTAGAGCTCACATGGCCACACAGAGGTGATGTGGAAATAATTCGCCTGCTCCCTTGCAGGGTCCACGAGGACTGCTTGGCCCCAGAGGCTCTCCTGGCCCCACGGGTCGCCCGGTGAGTGTCACTGGCTCTCTGCATCCCTGTCTGTCTTTTTGTTTGTTTTGAGA mutant 117 200 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.85 0.818626465197726 0.671638616266193 0 0 NA NA 0.85 0.745132540731959 0 NA NA NA FALSE 0 -0.841 rs2010448 upstream_gene_variant MODIFIER CTD-2553C6.1 Clone_based_vega_gene NA ENST00000592332 rs2010448 1 T:0.4413 T:0.6377 T:0.3876 NA T:0.4435 T:0.332 T:0.3241 T:0.5971 T:0.3476 CCA C,T 0.374 19:9992907 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00000675516 intron_variant -0.251412 0.19639 0.02233 0.065574 0.514052592603865 0.101113 7.11903366992312e-07 FALSE 0.371664 ENSE00000675594_000 ENSE00000675594 000 15 41030122 41030291 - 41 78 51 NA NA NA NA NA TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 NA NA NA NA NA NA TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC natural 12 10 1 1 1 3046 1445 0.964353935671988 0.988828779694354 0.976591357683171 1 1 0.964353935671988 0.988828779694354 0 0 0 0 1 0.976591357683171 0 0 0 FALSE FALSE NA NA NA NA NA RMDN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RMDN3 NA NA NA ENSG00000137824 ENSE00003645635 NA NA NA NA NA NA NA 0.023779597676249 FALSE NA ENSE00000675594_001 ENSE00000675594 001 15 41030122 41030291 - 41 78 51 T C 41030136 478 156 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATGATGGTCCTAAATGC 40737923 40738093 40737937 40737938 40737938 downstr_intron 27 1.675 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATGATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 623 17 1 1 1 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.0111712203056459 1 0.976591357683171 NA 0.0234086423168288 NA FALSE NA 0 -1.051 rs182138409 upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 rs182138409 1 C:0.0004 C:0 C:0.0029 NA C:0 C:0 C:0 TTA T,C 0.001054 15:40737938 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 0.173586 0.15806 0.01815 0.256867 0.392473466026556 0.0796792 0.023779597676249 FALSE 0.00128362 ENSE00000675594_002 ENSE00000675594 002 15 41030122 41030291 - 41 78 51 G A 41030139 479 153 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGATATAATGGTCCTAAATGC 40737923 40738093 40737940 40737941 40737941 downstr_intron 24 1.6 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGATATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 298 874 0.871769545782441 0.997433823579162 0.934601684680802 1 1 0.964353935671988 0.988828779694354 NA NA -0.0925843898895468 0.00860504388480743 1 0.976591357683171 NA -0.0419896730023697 NA FALSE NA 0 -1.612 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA TGT G,A 8.236e-06 15:40737941 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 0.050603 0.17742 0.01978 0.256867 0.439130585427168 0.0796792 0.023779597676249 FALSE 8.124e-06 ENSE00000675594_003 ENSE00000675594 003 15 41030122 41030291 - 41 78 51 A C 41030143 480 149 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCGTGACATAATGGTCCTAAATGC 40737923 40738093 40737944 40737945 40737945 downstr_intron 20 1.5 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCGTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 87 712 1 0.999946531712223 0.999973265856112 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.0111177520178689 1 0.976591357683171 NA 0.0233819081729403 NA FALSE NA 0.003 0.383 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA AAG A,C 8.236e-06 15:40737945 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 0.020811 0.25207 0.13595 0.256867 0.308682169034355 0.0621823 0.023779597676249 FALSE 4.0618e-06 ENSE00000675594_004 ENSE00000675594 004 15 41030122 41030291 - 41 78 51 C G 41030145 481 147 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTCCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737946 40737947 40737947 downstr_intron 18 1.45 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTCCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 722 3206 0.998739225550744 0.999950666905503 0.999344946228123 1 1 0.964353935671988 0.988828779694354 NA NA 0.0343852898787559 0.0111218872111487 1 0.976591357683171 NA 0.0227535885449523 NA FALSE NA 0 0.152 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA GCA C,G 8.236e-06 15:40737947 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant -0.298131 0.21213 0.12578 0.256867 0.315704781969341 0.0621823 0.023779597676249 FALSE 4.06167e-06 ENSE00000675594_005 ENSE00000675594 005 15 41030122 41030291 - 41 78 51 T G 41030148 482 144 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCCGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737949 40737950 40737950 downstr_intron 15 1.375 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCCGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 33 197 1 0.987049184520855 0.993524592260427 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 -0.00177959517349924 1 0.976591357683171 NA 0.0169332345772563 NA FALSE NA 0 0.067 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA CTG T,G 8.237e-06 15:40737950 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 0.267893 0.19769 0.02415 0.256867 0.608860757011475 0.0621823 0.023779597676249 FALSE 4.06141e-06 ENSE00000675594_006 ENSE00000675594 006 15 41030122 41030291 - 41 78 51 C T 41030153 483 139 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCATTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737954 40737955 40737955 downstr_intron 10 1.25 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCATTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 55 489 1 1 1 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.0111712203056459 1 0.976591357683171 NA 0.0234086423168288 NA FALSE NA 0 0.182 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA ACG C,T 3.295e-05 15:40737955 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 0.252655 0.06446 0.00066 0.256867 0.53534076862496 0.103041 0.023779597676249 FALSE 4.06147e-05 ENSE00000675594_007 ENSE00000675594 007 15 41030122 41030291 - 41 78 51 G A 41030154 484 138 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGTGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737955 40737956 40737956 downstr_intron 9 1.225 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGTGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 1920 728 0.958765980091287 0.999782696363368 0.979274338227328 1 1 0.964353935671988 0.988828779694354 NA NA -0.0055879555807008 0.0109539166690139 1 0.976591357683171 NA 0.00268298054415655 NA FALSE NA 0 -1.148 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 rs370226833 1 NA A:0 A:0.0001 CGC G,A 0.0002059 15:40737956 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 0.17936 0.13177 0.00373 0.256867 0.586869472414869 0.0710465 0.023779597676249 FALSE 0.000276187 ENSE00000675594_008 ENSE00000675594 008 15 41030122 41030291 - 41 78 51 T C 41030167 485 125 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTGTCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737968 40737969 40737969 exon -5 0.948717948717949 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTGTCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 402 640 0.998765022065641 0.998982665366856 0.998873843716249 1 1 0.964353935671988 0.988828779694354 NA NA 0.0344110863936528 0.0101538856725019 1 0.976591357683171 NA 0.0222824860330773 NA FALSE NA 1 3.253 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA ATA T,C 8.236e-06 15:40737969 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 5.747807 0.97421 0.96926 0.722319 0.997840190942298 0 0.023779597676249 FALSE 1.21834e-05 ENSE00000675594_009 ENSE00000675594 009 15 41030122 41030291 - 41 78 51 G A 41030169 486 123 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGTTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737970 40737971 40737971 exon -7 0.923076923076923 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGTTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 81 29 0.980519470257915 0.994506862966565 0.98751316661224 1 1 0.964353935671988 0.988828779694354 NA NA 0.0161655345859272 0.00567808327221042 1 0.976591357683171 NA 0.0109218089290688 NA FALSE NA 1 1.392 rs141170560 upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 rs141170560 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGC G,A 8.236e-06 15:40737971 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 synonymous_variant 1.081159 0.96671 0.86974 0.722319 0.646161676894257 0 0.023779597676249 FALSE 4.06118e-06 ENSE00000675594_010 ENSE00000675594 010 15 41030122 41030291 - 41 78 51 C T 41030170 487 122 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTACTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737971 40737972 40737972 exon -8 0.91025641025641 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTACTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 818 131 0.9588735477809 0.985006993392294 0.971940270586597 1 1 0.964353935671988 0.988828779694354 NA NA -0.00548038789108785 -0.00382178630205987 1 0.976591357683171 NA -0.00465108709657386 NA FALSE NA 1 4.509 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA GCA C,T 8.236e-06 15:40737972 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 4.859613 0.99079 0.98331 0.722319 0.997802530679116 0 0.023779597676249 FALSE 4.06131e-06 ENSE00000675594_011 ENSE00000675594 011 15 41030122 41030291 - 41 78 51 C A 41030172 488 120 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGTTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737973 40737974 40737974 exon -10 0.884615384615385 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGTTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 550 724 1 0.997504884907491 0.998752442453745 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.00867610521313666 1 0.976591357683171 NA 0.0221610847705742 NA FALSE NA 1 6.134 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA ACC C,A 2.471e-05 15:40737974 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 7.665551 0.99116 0.99197 0.722319 0.994218831832953 0 0.023779597676249 FALSE 2.03056e-05 ENSE00000675594_012 ENSE00000675594 012 15 41030122 41030291 - 41 78 51 T G 41030198 489 94 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCCTGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737999 40738000 40738000 exon -36 0.551282051282051 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCCTGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 105 662 1 0.991332053801182 0.995666026900591 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.00250327410682782 1 0.976591357683171 NA 0.0190746692174198 NA FALSE NA 0.998 1.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40738000 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 0.920457 0.9752 0.92442 0.722319 0.576627002407948 0 0.023779597676249 FALSE 2.84271e-05 ENSE00000675594_013 ENSE00000675594 013 15 41030122 41030291 - 41 78 51 T C 41030198 490 94 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCGTGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40737999 40738000 40738000 exon -36 0.551282051282051 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCGTGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 534 679 0.999614030510379 0.988652426012999 0.994133228261689 1 1 0.964353935671988 0.988828779694354 NA NA 0.0352600948383909 -0.000176353681354713 1 0.976591357683171 NA 0.0175418705785181 NA FALSE NA 0.998 1.428 NA NA NA RMDN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RMDN3 NA NA NA ENSG00000137824 ENSE00003645635 missense_variant 1.003749 0.97365 0.93222 0.722319 0.926362024270462 0 0.023779597676249 FALSE 1.62441e-05 ENSE00000675594_014 ENSE00000675594 014 15 41030122 41030291 - 41 78 51 G A 41030200 491 92 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCTCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738001 40738002 40738002 exon -38 0.525641025641026 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCTCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 130 170 1 0.986747387280771 0.993373693640386 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 -0.00208139241358285 1 0.976591357683171 NA 0.0167823359572145 NA FALSE NA 1 7.75 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA GGG G,A 8.236e-06 15:40738002 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 6.547355 0.99122 0.9935 0.722319 0.998661745100564 0 0.023779597676249 FALSE 4.06111e-06 ENSE00000675594_015 ENSE00000675594 015 15 41030122 41030291 - 41 78 51 G C 41030201 492 91 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACGCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738002 40738003 40738003 exon -39 0.512820512820513 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACGCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 126 986 1 0.971016353604262 0.985508176802131 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 -0.0178124260900925 1 0.976591357683171 NA 0.00891681911895964 NA FALSE NA 1 7.75 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA GGG G,C 8.236e-06 15:40738003 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 3.418657 0.98493 0.99243 0.722319 0.988505065150041 0 0.023779597676249 FALSE 4.06095e-06 ENSE00000675594_016 ENSE00000675594 016 15 41030122 41030291 - 41 78 51 A C 41030220 493 72 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATGGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738021 40738022 40738022 exon 21 0.269230769230769 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATGGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 1495 382 0.995025399424416 1 0.997512699712208 1 1 0.964353935671988 0.988828779694354 NA NA 0.0306714637524277 0.0111712203056459 1 0.976591357683171 NA 0.0209213420290368 NA FALSE NA 0.972 0.034 rs148669324 upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 rs148669324 1 NA C:0.0002 C:0 CAA A,C 8.236e-06 15:40738022 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 5.326343 0.97702 0.73116 0.722319 0.996403727767299 0 0.023779597676249 FALSE 8.12209e-06 ENSE00000675594_017 ENSE00000675594 017 15 41030122 41030291 - 41 78 51 G A 41030223 494 69 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCTATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738024 40738025 40738025 exon 18 0.230769230769231 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCTATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 520 304 1 1 1 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.0111712203056459 1 0.976591357683171 NA 0.0234086423168288 NA FALSE NA 0.974 0.196 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA TGG G,A 8.236e-06 15:40738025 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 synonymous_variant 1.716286 0.96362 0.79849 0.722319 0.62566955616494 0 0.023779597676249 FALSE 4.06131e-06 ENSE00000675594_018 ENSE00000675594 018 15 41030122 41030291 - 41 78 51 G C 41030224 495 68 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGGCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738025 40738026 40738026 exon 17 0.217948717948718 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGGCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 914 1369 1 1 1 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.0111712203056459 1 0.976591357683171 NA 0.0234086423168288 NA FALSE NA 1 4.91 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA GGC G,C 8.236e-06 15:40738026 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 6.262021 0.98756 0.9911 0.722319 0.997562375913466 0 0.023779597676249 FALSE 4.06138e-06 ENSE00000675594_019 ENSE00000675594 019 15 41030122 41030291 - 41 78 51 T G 41030226 496 66 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAACGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738027 40738028 40738028 exon 15 0.192307692307692 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAACGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 1136 637 0.998284800835391 1 0.999142400417695 1 1 0.964353935671988 0.988828779694354 NA NA 0.0339308651634027 0.0111712203056459 1 0.976591357683171 NA 0.0225510427345243 NA FALSE NA 1 2.808 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA CTT T,G 3.295e-05 15:40738028 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 6.343296 0.98462 0.98699 0.722319 0.998249228415012 0 0.023779597676249 FALSE 2.03069e-05 ENSE00000675594_021 ENSE00000675594 021 15 41030122 41030291 - 41 78 51 C G 41030240 498 52 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGCAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738041 40738042 40738042 exon 1 0.0128205128205128 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGCAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant 15 12 0.85 0.85 0.85 NA NA NA NA NA 1 1 0.964353935671988 0.988828779694354 -0.15 -0.15 NA NA 1 0.976591357683171 -0.15 NA NA NA FALSE 1 4.506 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40738042 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 missense_variant 5.828258 0.98726 0.99147 0.722319 0.997652806123176 0 0.023779597676249 FALSE 4.06171e-06 ENSE00000675594_022 ENSE00000675594 022 15 41030122 41030291 - 41 78 51 C T 41030240 499 52 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGAAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738041 40738042 40738042 exon 1 0.0128205128205128 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGAAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 67 1267 1 0.993692348478622 0.996846174239311 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.00486356878426819 1 0.976591357683171 NA 0.02025481655614 NA FALSE NA 1 4.506 NA NA NA RMDN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RMDN3 NA NA NA ENSG00000137824 ENSE00003645635 missense_variant 4.397308 0.98441 0.98414 0.722319 0.997823862477751 0 0.023779597676249 FALSE 5.28022e-05 ENSE00000675594_023 ENSE00000675594 023 15 41030122 41030291 - 41 78 51 G A 41030245 500 47 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCTTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738046 40738047 40738047 upstr_intron -5 -0.0784313725490196 TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCTTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 926 445 1 1 1 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.0111712203056459 1 0.976591357683171 NA 0.0234086423168288 NA FALSE NA 0 -0.24 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 rs376771038 1 NA A:0.0009 A:0 AGG G,A 9.06e-05 15:40738047 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 splice_region_variant 0.658658 0.20119 0.09895 0.069865 0.504246832548779 0.127267 0.023779597676249 FALSE 6.49942e-05 ENSE00000675594_026 ENSE00000675594 026 15 41030122 41030291 - 41 78 51 C T 41030269 503 23 TTTAGCAACTCTGGTGTCTGATATTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738070 40738071 40738071 upstr_intron -29 -0.549019607843137 TTTAGCAACTCTGGTGTCTGATATTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 104 222 1 0.999286933414628 0.999643466707314 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.0104581537202738 1 0.976591357683171 NA 0.0230521090241428 NA FALSE NA 0.932 -0.096 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 rs577185516 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACA C,T 8.236e-06 15:40738071 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 1.088251 0.97462 0.76819 0.062308 0.76834983316456 0.087225 0.023779597676249 FALSE 4.06643e-06 ENSE00000675594_027 ENSE00000675594 027 15 41030122 41030291 - 41 78 51 C G 41030272 504 20 TTTAGCAACTCTGGTGTCTCATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738073 40738074 40738074 upstr_intron -32 -0.607843137254902 TTTAGCAACTCTGGTGTCTCATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 483 489 1 0.99511738567759 0.997558692838795 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.00628860598323555 1 0.976591357683171 NA 0.0209673351556237 NA FALSE NA 0.906 1.656 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA TCA C,G 8.236e-06 15:40738074 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 1.158365 0.96839 0.83729 0.062308 0.75771957896485 0.0864053 0.023779597676249 FALSE 4.06736e-06 ENSE00000675594_028 ENSE00000675594 028 15 41030122 41030291 - 41 78 51 A G 41030280 505 12 TTTAGCAACTCCGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 40738081 40738082 40738082 upstr_intron -40 -0.764705882352941 TTTAGCAACTCCGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC mutant NA NA NA NA NA 64 727 1 0.998939016631194 0.999469508315597 1 1 0.964353935671988 0.988828779694354 NA NA 0.0356460643280118 0.0101102369368398 1 0.976591357683171 NA 0.0228781506324258 NA FALSE NA 0.002 0.918 . upstream_gene_variant MODIFIER RMDN3 HGNC 25550 ENST00000557831 1 NA CAG A,G 8.236e-06 15:40738082 RMDN3 HGNC Symbol protein_coding 19967 ENSG00000137824 ENSE00003645635 intron_variant 0.443438 0.61003 0.2822 0.062308 0.735202349613922 0.0469094 0.023779597676249 FALSE 4.07166e-06 ENSE00000675594_BRK ENSE00000675594 BRK 15 41030122 41030291 - 41 78 51 A,G; T,T NA NA NA TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTTTGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGCCAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC 40737923 40738093 NA NA NA NA NA NA TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTTTGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGCCAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC TTTAGCAACTCTGGTGTCTGATGTTAGTTTATATTTACATTTTCCCCTTAGGAGCATGTGGACAAAGCCATTGCTCTCCAGCCAGAAAACCCCATGGCTCACTTTCTTCTTGGCAGGTGGTGCTATCAGGTAAGCTGCGTTTCAGTGCTTGACATAATGGTCCTAAATGC control NA NA NA NA NA 47 431 0 0.000742794823831818 0.000371397411915909 1 1 0.964353935671988 0.988828779694354 NA NA -0.964353935671988 -0.988085984870522 1 0.976591357683171 NA -0.976219960271255 NA TRUE NA NA NA NA NA NA RMDN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RMDN3 NA NA NA ENSG00000137824 ENSE00003645635 NA NA NA NA NA NA NA 0.023779597676249 FALSE NA ENSE00000675664_000 ENSE00000675664 000 X 118675258 118675427 - 33 93 44 NA NA NA NA NA GGCCCCAGCACCTTGCTACCCCTTGCTACTCACCAGCTCTTGCAGTCGCCTCTTGCTCATGCCTTTGCGCTCCAGCTGTTTTTCAATCACTTTGGCATTCTGTGCATATGAGTCAGCAACTTCCCTCTGAAGGAAAAAAGGAGCATCCTTAAACCGGAAGTCTCACCAAG 119541294 119541464 NA NA NA NA NA NA CTTGGTGAGACTTCCGGTTTAAGGATGCTCCTTTTTTCCTTCAGAGGGAAGTTGCTGACTCATATGCACAGAATGCCAAAGTGATTGAAAAACAGCTGGAGCGCAAAGGCATGAGCAAGAGGCGACTGCAAGAGCTGGTGAGTAGCAAGGGGTAGCAAGGTGCTGGGGCC CTTGGTGAGACTTCCGGTTTAAGGATGCTCCTTTTTTCCTTCAGAGGGAAGTTGCTGACTCATATGCACAGAATGCCAAAGTGATTGAAAAACAGCTGGAGCGCAAAGGCATGAGCAAGAGGCGACTGCAAGAGCTGGTGAGTAGCAAGGGGTAGCAAGGTGCTGGGGCC natural NA NA NA NA NA 670 464 0.97630172345589 0.964262897902314 0.970282310679102 NA NA 0.97630172345589 0.964262897902314 NA NA 0 0 NA 0.970282310679102 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003553268 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00000676004_000 ENSE00000676004 000 16 19721790 19721959 - 41 78 51 NA NA NA NA NA GAGCGTGCCACCTCCTCGCAGAGCCCTAGCCCCAAACTTACCGTCCACTTCCTGGTTTCAGAAGCTTCCGTTTTGCCTGACTCGCGATCGATCTCTTCTTGCAAGGCCTTTCGCCTCACCTGAGCAAGAAGGATGACAGAAGAGGGCCGTCAGACAGAGATCTTCTTTCA 19710467 19710637 NA NA NA NA NA NA TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC natural 42 32 0.988645526720083 0.993520395024893 0.991082960872488 1410 2062 0.970189041533683 0.999441702908966 0.984815372221324 0.988645526720083 0.993520395024893 0.970189041533683 0.999441702908966 0 0 0 0 0.991082960872488 0.984815372221324 0 0 0 FALSE FALSE NA NA NA NA NA KNOP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNOP1 NA NA NA ENSG00000103550 ENSE00000676004 NA NA NA NA NA NA NA 3.16682440044249e-05 FALSE NA ENSE00000676414_000 ENSE00000676414 000 17 4863282 4863451 - 35 90 45 NA NA NA NA NA CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 NA NA NA NA NA NA AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG natural 140 102 0.975963886546735 0.993619363544865 0.9847916250458 3634 2099 0.919719421752377 0.994234272184018 0.956976846968197 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 0 0 0 0 0.9847916250458 0.956976846968197 0 0 0 FALSE FALSE NA NA NA NA NA ENO3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPAG7 NA NA NA ENSG00000091640 ENSE00000676414 NA NA NA NA NA NA NA 0.00114719730878394 FALSE NA ENSE00000676414_002 ENSE00000676414 002 17 4863282 4863451 - 35 90 45 G A 4863328 499 124 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCACTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960032 4960033 4960033 exon -12 0.877777777777778 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGTGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 52 72 0.996231952585615 0.993394242207664 0.994813097396639 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0765125308332382 -0.000840029976353907 0.9847916250458 0.956976846968197 NA 0.0378362504284421 NA FALSE NA 1 7.565 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 rs201256045 1 NA A:0.0003 A:0.0023 CGC G,A 0.001754 17:4960033 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 missense_variant 4.407953 0.98926 0.97869 0.732398 0.99573284667847 0 0.00114719730878394 FALSE 0.00171824 ENSE00000676414_003 ENSE00000676414 003 17 4863282 4863451 - 35 90 45 C T 4863335 500 117 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCTTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960039 4960040 4960040 exon -19 0.8 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAAGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 44 1045 1 1 1 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0802805782476231 0.00576572781598228 0.9847916250458 0.956976846968197 NA 0.0430231530318027 NA FALSE NA 1 0.691 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 rs372330140 1 NA T:0 T:0.0001 CCT C,T 8.273e-06 17:4960040 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 synonymous_variant 1.559073 0.98073 0.81573 0.732398 0.813210599120949 0 0.00114719730878394 FALSE 4.06177e-06 ENSE00000676414_008 ENSE00000676414 008 17 4863282 4863451 - 35 90 45 C T 4863366 505 86 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCATGACGGTAAGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960070 4960071 4960071 exon 41 0.455555555555556 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCATGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 545 10 0.999242435050747 1 0.999621217525373 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0795230132983697 0.00576572781598228 0.9847916250458 0.956976846968197 NA 0.042644370557176 NA FALSE NA 0.822 1.923 rs142176072 downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 rs142176072 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 3.309e-05 17:4960071 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 missense_variant 2.874546 0.80263 0.38252 0.732398 0.972837152014565 0 0.00114719730878394 FALSE 4.46795e-05 ENSE00000676414_011 ENSE00000676414 011 17 4863282 4863451 - 35 90 45 G A 4863370 508 82 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACAGTAAGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960074 4960075 4960075 exon 37 0.411111111111111 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACTGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 422 148 0.995981164244029 1 0.997990582122014 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0762617424916517 0.00576572781598228 0.9847916250458 0.956976846968197 NA 0.041013735153817 NA FALSE NA 1 7.61 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 1 NA CGG G,A 8.273e-06 17:4960075 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 missense_variant 7.249104 0.98926 0.97977 0.732398 0.999379043805101 0 0.00114719730878394 FALSE 8.12387e-06 ENSE00000676414_012 ENSE00000676414 012 17 4863282 4863451 - 35 90 45 A G 4863374 509 78 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAGGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960078 4960079 4960079 exon 33 0.366666666666667 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCCTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 139 433 1 1 1 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0802805782476231 0.00576572781598228 0.9847916250458 0.956976846968197 NA 0.0430231530318027 NA FALSE NA 0.35 -0.586 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 1 NA AAG G,G 8.273e-06 17:4960079 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 synonymous_variant 0.378791 0.95664 0.07636 0.732398 0.736099377820697 0 0.00114719730878394 FALSE NA ENSE00000676414_013 ENSE00000676414 013 17 4863282 4863451 - 35 90 45 G A 4863377 510 75 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAATCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960081 4960082 4960082 exon 30 0.333333333333333 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGATTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 221 127 1 1 1 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0802805782476231 0.00576572781598228 0.9847916250458 0.956976846968197 NA 0.0430231530318027 NA FALSE NA 0.193 -0.761 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 1 NA AGT G,A 8.273e-06 17:4960082 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 synonymous_variant 0.350201 0.96171 0.19275 0.732398 0.801043257459479 0 0.00114719730878394 FALSE NA ENSE00000676414_015 ENSE00000676414 015 17 4863282 4863451 - 35 90 45 T C 4863380 512 72 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAGTCCAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960084 4960085 4960085 exon 27 0.3 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTGGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 441 451 0.998497264891912 0.995622010194156 0.997059637543034 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0787778431395353 0.00138773801013836 0.9847916250458 0.956976846968197 NA 0.0400827905748368 NA FALSE NA 0.965 0 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 1 NA CTA T,C 1.655e-05 17:4960085 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 synonymous_variant 0.108286 0.95756 0.25468 0.732398 0.617680116308477 0 0.00114719730878394 FALSE 8.12328e-06 ENSE00000676414_016 ENSE00000676414 016 17 4863282 4863451 - 35 90 45 G A 4863382 513 70 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAGTCTAACTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960086 4960087 4960087 exon 25 0.277777777777778 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGTTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 44 69 1 1 1 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0802805782476231 0.00576572781598228 0.9847916250458 0.956976846968197 NA 0.0430231530318027 NA FALSE NA 1 5.8 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 1 NA AGC G,A 2.482e-05 17:4960087 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 synonymous_variant 0.811821 0.98988 0.96862 0.732398 0.871129532969553 0 0.00114719730878394 FALSE 1.62466e-05 ENSE00000676414_020 ENSE00000676414 020 17 4863282 4863451 - 35 90 45 G A 4863412 517 40 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAAAAGAGCAGAATGATGGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960116 4960117 4960117 upstr_intron -6 -0.111111111111111 AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTTTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 157 928 1 1 1 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0802805782476231 0.00576572781598228 0.9847916250458 0.956976846968197 NA 0.0430231530318027 NA FALSE NA 0.151 1.427 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 rs201998307 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGA G,A 2.482e-05 17:4960117 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 splice_region_variant -0.602129 0.17947 0.07684 0.115753 0.656607446666208 0.139529 0.00114719730878394 FALSE 6.90568e-05 ENSE00000676414_022 ENSE00000676414 022 17 4863282 4863451 - 35 90 45 G A 4863427 519 25 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATAGGGTCAGAGTCCATACAAATGTTT 4959986 4960156 4960131 4960132 4960132 upstr_intron -21 -0.444444444444444 AAACATTTGTATGGACTCTGACCCTATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 1019 97 0.999849585212601 1 0.9999247926063 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0801301634602237 0.00576572781598228 0.9847916250458 0.956976846968197 NA 0.042947945638103 NA FALSE NA 0.001 0.443 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 1 NA TGG G,A 8.274e-06 17:4960132 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 3_prime_UTR_variant -0.365214 0.20191 0.03619 0.069865 0.581540089567396 0.126395 0.00114719730878394 FALSE 4.06286e-06 ENSE00000676414_023 ENSE00000676414 023 17 4863282 4863451 - 35 90 45 T C 4863437 520 15 CTTCTGGACCCCAAGGGCTGCAAAGCATAGCTCACCTTCAGCTTCCGCTTCTCCTCAGCCTTCTGGGGGTCCCATTCCTCTCCACGACGGTAAGAGTCTAGCTCTTCATCTGAGGGTGCAAACTCCTGAAGAAGAGCAGAATGATGGGGTCAGAGCCCATACAAATGTTT 4959986 4960156 4960141 4960142 4960142 upstr_intron -31 -0.666666666666667 AAACATTTGTATGGGCTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG AAACATTTGTATGGACTCTGACCCCATCATTCTGCTCTTCTTCAGGAGTTTGCACCCTCAGATGAAGAGCTAGACTCTTACCGTCGTGGAGAGGAATGGGACCCCCAGAAGGCTGAGGAGAAGCGGAAGCTGAAGGTGAGCTATGCTTTGCAGCCCTTGGGGTCCAGAAG mutant NA NA NA NA NA 97 1594 0.999574964395313 0.998700235585576 0.999137599990444 0.975963886546735 0.993619363544865 0.919719421752377 0.994234272184018 NA NA 0.0798555426429366 0.0044659634015578 0.9847916250458 0.956976846968197 NA 0.0421607530222472 NA FALSE NA 0 -0.497 . downstream_gene_variant MODIFIER ENO3 HGNC 3354 ENST00000518175 1 NA GTC T,C 8.274e-06 17:4960142 SPAG7 HGNC Symbol protein_coding 8646 ENSG00000091640 ENSE00000676414 synonymous_variant -0.629315 0.20791 0.04957 0 0.493826727532127 0 0.00114719730878394 FALSE 8.12572e-06 ENSE00000676718_000 ENSE00000676718 000 15 41821638 41821807 - 30 99 41 NA NA NA NA NA TGCCCCATCCTCTCCAGTCCCATGCCTCACCTCTGCCTCCTCTCCATGGTGGTGCAGACCCAGGTGGGTGGGCAGGTCCACGTCAGGGGCCAGTAGTTCTCCCTGAAGACTGAATCGAGCCTGCATCCTCTAATGGGAAGAGAAAGAGGACTGTGGTCTGGGGGCTCCAG 41529439 41529609 NA NA NA NA NA NA CTGGAGCCCCCAGACCACAGTCCTCTTTCTCTTCCCATTAGAGGATGCAGGCTCGATTCAGTCTTCAGGGAGAACTACTGGCCCCTGACGTGGACCTGCCCACCCACCTGGGTCTGCACCACCATGGAGAGGAGGCAGAGGTGAGGCATGGGACTGGAGAGGATGGGGCA CTGGAGCCCCCAGACCACAGTCCTCTTTCTCTTCCCATTAGAGGATGCAGGCTCGATTCAGTCTTCAGGGAGAACTACTGGCCCCTGACGTGGACCTGCCCACCCACCTGGGTCTGCACCACCATGGAGAGGAGGCAGAGGTGAGGCATGGGACTGGAGAGGATGGGGCA natural 12 18 0.982875685407296 0.987955174669923 0.985415430038609 683 1148 0.988818831585623 0.994352746251537 0.99158578891858 0.982875685407296 0.987955174669923 0.988818831585623 0.994352746251537 0 0 0 0 0.985415430038609 0.99158578891858 0 0 0 FALSE FALSE NA NA NA NA NA RPAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPAP1 NA NA NA ENSG00000103932 ENSE00003607851 NA NA NA NA NA NA NA 5.01588405270387e-15 FALSE NA ENSE00000676718_002 ENSE00000676718 002 15 41821638 41821807 - 30 99 41 G A 41821704 631 104 TGCCCCATCCTCTCCAGTCCCATGCCTCACCTCTGCCTCCTCTCCATGGTGGTGCAGACCCAGGTGAGTGGGCAGGTCCACGTCAGGGGCCAGTAGTTCTCCCTGAAGACTGAATCGAGCCTGCATCCTCTAATGGGAAGAGAAAGAGGACTGTGGTCTGGGGGCTCCAG 41529439 41529609 41529505 41529506 41529506 exon -37 0.636363636363636 CTGGAGCCCCCAGACCACAGTCCTCTTTCTCTTCCCATTAGAGGATGCAGGCTCGATTCAGTCTTCAGGGAGAACTACTGGCCCCTGACGTGGACCTGCCCACTCACCTGGGTCTGCACCACCATGGAGAGGAGGCAGAGGTGAGGCATGGGACTGGAGAGGATGGGGCA CTGGAGCCCCCAGACCACAGTCCTCTTTCTCTTCCCATTAGAGGATGCAGGCTCGATTCAGTCTTCAGGGAGAACTACTGGCCCCTGACGTGGACCTGCCCACCCACCTGGGTCTGCACCACCATGGAGAGGAGGCAGAGGTGAGGCATGGGACTGGAGAGGATGGGGCA mutant NA NA NA NA NA 72 30 1 1 1 0.982875685407296 0.987955174669923 0.988818831585623 0.994352746251537 NA NA 0.0111811684143771 0.00564725374846253 0.985415430038609 0.99158578891858 NA 0.00841421108141982 NA FALSE NA 0.994 0.293 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPAP1 HGNC 24567 ENST00000568413 4/6 rs200057825 1 NA GGG G,A 8.237e-06 15:41529506 RPAP1 HGNC Symbol protein_coding 27093 ENSG00000103932 ENSE00003607851 synonymous_variant 1.220962 0.9666 0.7629 0.719381 0.588261328270094 0 5.01588405270387e-15 FALSE 4.0935e-06 ENSE00000676718_016 ENSE00000676718 016 15 41821638 41821807 - 30 99 41 G T 41821785 645 23 TGCCCCATCCTCTCCAGTCCCATGCCTCACCTCTGCCTCCTCTCCATGGTGGTGCAGACCCAGGTGGGTGGGCAGGTCCACGTCAGGGGCCAGTAGTTCTCCCTGAAGACTGAATCGAGCCTGCATCCTCTAATGGGAAGAGAAAGATGACTGTGGTCTGGGGGCTCCAG 41529439 41529609 41529586 41529587 41529587 upstr_intron -19 -0.439024390243902 CTGGAGCCCCCAGACCACAGTCATCTTTCTCTTCCCATTAGAGGATGCAGGCTCGATTCAGTCTTCAGGGAGAACTACTGGCCCCTGACGTGGACCTGCCCACCCACCTGGGTCTGCACCACCATGGAGAGGAGGCAGAGGTGAGGCATGGGACTGGAGAGGATGGGGCA CTGGAGCCCCCAGACCACAGTCCTCTTTCTCTTCCCATTAGAGGATGCAGGCTCGATTCAGTCTTCAGGGAGAACTACTGGCCCCTGACGTGGACCTGCCCACCCACCTGGGTCTGCACCACCATGGAGAGGAGGCAGAGGTGAGGCATGGGACTGGAGAGGATGGGGCA mutant NA NA NA NA NA 15 25 0.8 1 0.9 0.982875685407296 0.987955174669923 0.988818831585623 0.994352746251537 NA NA -0.188818831585623 0.00564725374846253 0.985415430038609 0.99158578891858 NA -0.0915857889185802 NA FALSE NA 0 -1.034 . intron_variant&non_coding_transcript_variant MODIFIER RPAP1 HGNC 24567 ENST00000568413 3/5 1 NA AGG G,T 8.242e-06 15:41529587 RPAP1 HGNC Symbol protein_coding 27093 ENSG00000103932 ENSE00003607851 intron_variant -0.442782 0.24609 0.1361 0.091178 0.396533400072256 0.0675211 5.01588405270387e-15 FALSE NA ENSE00000677429_000 ENSE00000677429 000 8 1846555 1846724 + 44 93 33 NA NA NA NA NA ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 NA NA NA NA NA NA ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT natural NA NA NA NA NA 852 911 0.995591197421632 1 0.997795598710816 NA NA 0.995591197421632 1 NA NA 0 0 NA 0.997795598710816 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003716727 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00000677429_005 ENSE00000677429 005 8 1846555 1846724 + 44 93 33 C G 1846581 5 27 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCCGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898414 1898415 1898415 upstr_intron -18 -0.386363636363636 ATGGCAGCCCTGCAGGGAGGTGACCCGGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 360 373 1 0.890819686599113 0.945409843299557 NA NA 0.995591197421632 1 NA NA 0.00440880257836751 -0.109180313400887 NA 0.997795598710816 NA -0.0523857554112595 NA FALSE NA 0 -1.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003716727 intron_variant -1.089785 0.05526 0.00711 0.062308 0.282265211539354 0.0591355 0.000257274838666869 FALSE 4.08067e-06 ENSE00000677429_018 ENSE00000677429 018 8 1846555 1846724 + 44 93 33 G T 1846620 18 66 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATAGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898453 1898454 1898454 exon 22 0.236559139784946 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCTATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 28 370 1 0.993533596392463 0.996766798196231 NA NA 0.995591197421632 1 NA NA 0.00440880257836751 -0.00646640360753714 NA 0.997795598710816 NA -0.00102880051458482 NA FALSE NA 1 8.97 NA NA NA ARHGEF10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF10 NA NA NA ENSG00000104728 ENSE00003716727 missense_variant 5.488402 0.99248 0.98863 0.706548 0.987735402866047 0 1.10804741351534e-13 FALSE 8.12473e-06 ENSE00000677429_BRK ENSE00000677429 BRK 8 1846555 1846724 + 44 93 33 A,G; T,T NA NA NA ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTGGCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGAAGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 NA NA NA NA NA NA ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACTTCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGCCAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT control 18 23 0.0710553580745996 0 0.0355276790372998 NA NA NA NA NA NA NA 0.995591197421632 1 NA NA NA NA NA 0.997795598710816 NA NA NA NA NA NA NA NA NA NA ARHGEF10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF10 NA NA NA ENSG00000104728 ENSE00003716727 NA NA NA NA NA NA NA 1.10804741351534e-13 FALSE NA ENSE00000677436_000 ENSE00000677436 000 19 10812570 10812739 + 56 69 45 NA NA NA NA NA ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 NA NA NA NA NA NA AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT natural 62 26 0.987893314620499 0.927348457704327 0.957620886162413 274 146 0.987266588654522 0.997887048575713 0.992576818615117 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 0 0 0 0 0.957620886162413 0.992576818615117 0 0 0 FALSE FALSE NA NA NA NA NA QTRT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA QTRT1 NA NA NA ENSG00000213339 ENSE00003538154 NA NA NA NA NA NA NA 0.000223249642879381 FALSE NA ENSE00000677436_001 ENSE00000677436 001 19 10812570 10812739 + 56 69 45 G A 10812586 1016 17 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGTGTCCCTGGGGGCCCTT 10701893 10702063 10701909 10701910 10701910 upstr_intron -40 -0.696428571428571 AAGGGCCCCCAGGGACACGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 82 381 1 0.990060163540013 0.995030081770006 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA 0.0127334113454785 -0.00782688503570017 0.957620886162413 0.992576818615117 NA 0.00245326315488914 NA FALSE NA 0 0.115 . intron_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 1/4 rs200278160 1 NA A:0.0002 A:0.0001 CGC G,A 2.471e-05 19:10701910 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 intron_variant 0.435655 0.12544 0.00722 0.08998 0.658426094177421 0.145282 0.000223249642879381 FALSE 1.21929e-05 ENSE00000677436_004 ENSE00000677436 004 19 10812570 10812739 + 56 69 45 T C 10812610 1019 41 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGGAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10701933 10701934 10701934 upstr_intron -16 -0.267857142857143 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTCCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 34 19 0.8 0.8 0.8 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA -0.187266588654522 -0.197887048575713 0.957620886162413 0.992576818615117 NA -0.192576818615117 NA FALSE NA 0 0.799 . intron_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 1/4 1 NA TTC T,C 1.647e-05 19:10701934 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 intron_variant 0.217635 0.16633 0.00322 0.119682 0.640634327568816 0.158601 0.000223249642879381 FALSE 8.12242e-06 ENSE00000677436_005 ENSE00000677436 005 19 10812570 10812739 + 56 69 45 C A 10812611 1020 42 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAATAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10701934 10701935 10701935 upstr_intron -15 -0.25 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTATTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant 54 36 0.85 0.85 0.85 NA NA NA NA NA 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 -0.137893314620499 -0.0773484577043265 NA NA 0.957620886162413 0.992576818615117 -0.107620886162413 NA NA NA FALSE 0 -0.09 . intron_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 1/4 rs375666573 1 NA A:0.0011 A:0 TCT C,A 8.236e-05 19:10701935 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 intron_variant 0.483168 0.19578 0.00407 0.119682 0.664621147555892 0.132412 0.000223249642879381 FALSE 8.12229e-05 ENSE00000677436_006 ENSE00000677436 006 19 10812570 10812739 + 56 69 45 C T 10812618 1021 49 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTAATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10701941 10701942 10701942 upstr_intron -8 -0.125 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATTAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 17 106 1 1 1 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA 0.0127334113454785 0.00211295142428714 0.957620886162413 0.992576818615117 NA 0.00742318138488279 NA FALSE NA 0 -0.137 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW QTRT1 HGNC 23797 ENST00000590705 1/4 1 NA TCA C,T 2.471e-05 19:10701942 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 splice_region_variant 0.415809 0.17302 0.00317 0.119682 0.751915692312275 0.175045 0.000223249642879381 FALSE 1.21825e-05 ENSE00000677436_007 ENSE00000677436 007 19 10812570 10812739 + 56 69 45 A G 10812624 1022 55 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCCGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10701947 10701948 10701948 upstr_intron -2 -0.0178571428571429 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCGGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 11 10 0 0 0 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA -0.987266588654522 -0.997887048575713 0.957620886162413 0.992576818615117 NA -0.992576818615117 NA TRUE NA 1 6.087 . splice_acceptor_variant&non_coding_transcript_variant HIGH QTRT1 HGNC 23797 ENST00000590705 1/4 1 NA CAG A,G 8.236e-06 19:10701948 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 splice_acceptor_variant 4.513607 0.96362 0.33723 0.119682 0.9939780499672 0.983277 0.000223249642879381 FALSE 4.06075e-06 ENSE00000677436_008 ENSE00000677436 008 19 10812570 10812739 + 56 69 45 G T 10812626 1023 57 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCACTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10701949 10701950 10701950 exon 1 0.0144927536231884 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGTGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant 190 175 0 0 0 NA NA NA NA NA 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 -0.987893314620499 -0.927348457704327 NA NA 0.957620886162413 0.992576818615117 -0.957620886162413 NA NA NA TRUE 1 5.676 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW QTRT1 HGNC 23797 ENST00000590705 2/5 1 NA GGG G,T 8.236e-06 19:10701950 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 stop_gained 11.644379 0.95541 0.16051 0.627647 0.993382054800779 0 0.000223249642879381 FALSE 4.06078e-06 ENSE00000677436_010 ENSE00000677436 010 19 10812570 10812739 + 56 69 45 C G 10812640 1025 71 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGCATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10701963 10701964 10701964 exon 15 0.217391304347826 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATGCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 222 208 0.998507483662759 0.993499566590421 0.99600352512659 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA 0.0112408950082371 -0.00438748198529182 0.957620886162413 0.992576818615117 NA 0.00342670651147264 NA FALSE NA 1 0.48 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 2/5 1 NA TCC C,G 8.236e-06 19:10701964 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 missense_variant 2.643808 0.94289 0.09456 0.627647 0.99182973023209 0 0.000223249642879381 FALSE 4.06072e-06 ENSE00000677436_012 ENSE00000677436 012 19 10812570 10812739 + 56 69 45 G C 10812653 1027 84 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACGGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10701976 10701977 10701977 exon 28 0.405797101449275 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACCGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 260 111 0.999365144952958 0.992813383205162 0.99608926407906 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA 0.0120985562984367 -0.00507366537055098 0.957620886162413 0.992576818615117 NA 0.00351244546394286 NA FALSE NA 1 6.945 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 2/5 rs369761816 1 NA C:0.0002 C:0 CGG G,C 2.471e-05 19:10701977 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 missense_variant 7.147052 0.97878 0.52956 0.627647 0.999229985266498 0 0.000223249642879381 FALSE 1.21823e-05 ENSE00000677436_016 ENSE00000677436 016 19 10812570 10812739 + 56 69 45 T C 10812673 1031 104 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAGTTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10701996 10701997 10701997 exon -22 0.695652173913043 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAACTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 35 43 1 0.890522542247159 0.94526127112358 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA 0.0127334113454785 -0.107364506328554 0.957620886162413 0.992576818615117 NA -0.0473155474915376 NA FALSE NA 0.953 0.167 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 2/5 1 NA ATT T,C 8.236e-06 19:10701997 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 synonymous_variant 0.781549 0.94134 0.01907 0.627647 0.804675687209369 0 0.000223249642879381 FALSE 4.06062e-06 ENSE00000677436_017 ENSE00000677436 017 19 10812570 10812739 + 56 69 45 G C 10812695 1032 126 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCAGCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10702018 10702019 10702019 downstr_intron 1 1.02272727272727 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGCTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant 81 113 0.85 0.840193048523692 0.845096524261846 NA NA NA NA NA 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 -0.137893314620499 -0.0871554091806348 NA NA 0.957620886162413 0.992576818615117 -0.112524361900567 NA NA NA FALSE 1 8.611 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 2/5 1 NA GGT G,C 8.236e-06 19:10702019 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 splice_donor_variant 5.647587 0.98047 0.69621 0.119682 0.995511380922148 0.984858 0.000223249642879381 FALSE 4.06072e-06 ENSE00000677436_021 ENSE00000677436 021 19 10812570 10812739 + 56 69 45 G C 10812709 1036 140 ACTCCAGAGAAGGGCCCTAGAACGTCGGCTGTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10702032 10702033 10702033 downstr_intron 15 1.34090909090909 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGACAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant 47 16 0.704678368509459 0.602080913977203 0.653379641243331 NA NA NA NA NA 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 -0.28321494611104 -0.325267543727124 NA NA 0.957620886162413 0.992576818615117 -0.304241244919082 NA NA NA FALSE 0.004 0.297 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 2/5 1 NA AGA G,C 8.236e-06 19:10702033 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 non_coding_transcript_exon_variant 0.220842 0.32263 0.00156 0.075627 0.598748842607019 0.112467 0.000223249642879381 FALSE 4.06075e-06 ENSE00000677436_022 ENSE00000677436 022 19 10812570 10812739 + 56 69 45 G T 10812711 1037 142 ACTCCAGAGAAGGGCCCTAGAACGTCGGATCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10702034 10702035 10702035 downstr_intron 17 1.38636363636364 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGATCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant 11 23 0.741590374758016 0.889017016425335 0.815303695591675 454 455 0.992834425309478 0.99736423374036 0.995099329524919 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 -0.246302939862483 -0.0383314412789918 0.00556783665495664 -0.000522814835352547 0.957620886162413 0.992576818615117 -0.142317190570737 0.00252251090980204 0.144839701480539 FALSE FALSE 0.012 0.949 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 2/5 1 NA AGC G,T 8.236e-06 19:10702035 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 non_coding_transcript_exon_variant 0.311938 0.41212 0.02087 0.075627 0.666171561081763 0.0646455 0.000223249642879381 FALSE 4.06091e-06 ENSE00000677436_023 ENSE00000677436 023 19 10812570 10812739 + 56 69 45 C A 10812712 1038 143 ACTCCAGAGAAGGGCCCTAGAACGTCGTCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10702035 10702036 10702036 downstr_intron 18 1.40909090909091 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGACGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 199 103 1 1 1 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA 0.0127334113454785 0.00211295142428714 0.957620886162413 0.992576818615117 NA 0.00742318138488279 NA FALSE NA 0 -1.104 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 2/5 1 NA GCC C,A 8.236e-06 19:10702036 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 non_coding_transcript_exon_variant 0.74923 0.35671 0.00572 0.075627 0.711673560835542 0.0825488 0.000223249642879381 FALSE 8.12209e-06 ENSE00000677436_024 ENSE00000677436 024 19 10812570 10812739 + 56 69 45 C T 10812713 1039 144 ACTCCAGAGAAGGGCCCTAGAACGTCAGCTCTCTCCTCAGCTCACCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCCTGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 10702036 10702037 10702037 downstr_intron 19 1.43181818181818 AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCTGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT mutant NA NA NA NA NA 115 11 1 1 1 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 NA NA 0.0127334113454785 0.00211295142428714 0.957620886162413 0.992576818615117 NA 0.00742318138488279 NA FALSE NA 0 -1.393 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER QTRT1 HGNC 23797 ENST00000590705 2/5 rs368997902 1 NA T:0.0002 T:0 CCG C,T 2.471e-05 19:10702037 QTRT1 HGNC Symbol protein_coding 12007 ENSG00000213339 ENSE00003538154 non_coding_transcript_exon_variant 0.872086 0.21385 0.00073 0.075627 0.823717108115391 0.0836135 0.000223249642879381 FALSE 1.21825e-05 ENSE00000677436_BRK ENSE00000677436 BRK 19 10812570 10812739 + 56 69 45 A,G; T,T NA NA NA ACTCCAGAGAAGGGCCCTAGAACGTCGGCTCTCTCCTCAGCTCGGCGTTAGCAGATTATGAGGCCAATTCATGAAGCCGTGGAGACCGTTGGCTTTCTGGATCAGCTCGGGTCCAAGGGTTGATGGAAGAAAGTGTCAGGTTAGGGGTGACCGCGTCCCTGGGGGCCCTT 10701893 10702063 NA NA NA NA NA NA AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCTTGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGCCGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT AAGGGCCCCCAGGGACGCGGTCACCCCTAACCTGACACTTTCTTCCATCAACCCAGGGACCCGAGCTGATCCAGAAAGCCAACGGTCTCCACGGCTTCATGAATTGGCCTCATAATCTGCTAACGGTGAGCTGAGGAGAGAGCCGACGTTCTAGGGCCCTTCTCTGGAGT control 389 703 0 0.0313181010630157 0.0156590505315078 29 20 0 0 0 0.987893314620499 0.927348457704327 0.987266588654522 0.997887048575713 -0.987893314620499 -0.896030356641311 -0.987266588654522 -0.997887048575713 0.957620886162413 0.992576818615117 -0.941961835630905 -0.992576818615117 0.0506149829842122 TRUE TRUE NA NA NA NA NA QTRT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA QTRT1 NA NA NA ENSG00000213339 ENSE00003538154 NA NA NA NA NA NA NA 0.000223249642879381 FALSE NA ENSE00000678432_000 ENSE00000678432 000 17 5352093 5352262 - 36 87 47 NA NA NA NA NA TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 NA NA NA NA NA NA TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG natural 36 30 0.993941111471036 0.996564524004032 0.995252817737534 1792 923 0.966718697784405 0.819055770548313 0.892887234166359 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 0 0 0 0 0.995252817737534 0.892887234166359 0 0 0 FALSE FALSE NA NA NA NA NA DHX33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX33 NA NA NA ENSG00000005100 ENSE00003527641 NA NA NA NA NA NA NA 0.0083822781334698 FALSE NA ENSE00000678432_013 ENSE00000678432 013 17 5352093 5352262 - 36 87 47 G C 5352159 557 104 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTGAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 5448838 5448839 5448839 exon -31 0.655172413793103 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTGAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 185 273 0.997754019320424 0.997594389778507 0.997674204549466 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.0310353215360192 0.178538619230195 0.995252817737534 0.892887234166359 NA 0.104786970383107 NA FALSE NA 1 2.205 . synonymous_variant LOW DHX33 HGNC 16718 ENST00000572490 10/11 1 NA TGA G,C 8.236e-06 17:5448839 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 synonymous_variant 0.345708 0.97065 0.95011 0.706548 0.725028969218584 0 0.0083822781334698 FALSE 4.08133e-06 ENSE00000678432_016 ENSE00000678432 016 17 5352093 5352262 - 36 87 47 G A 5352175 560 88 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGATGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 5448854 5448855 5448855 exon 41 0.471264367816092 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGATGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 153 644 1 0.993541878409669 0.996770939204835 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.0332813022155954 0.174486107861357 0.995252817737534 0.892887234166359 NA 0.103883705038476 NA FALSE NA 0.676 0.686 . missense_variant MODERATE DHX33 HGNC 16718 ENST00000572490 10/11 1 tolerated(0.24) benign(0.004) NA CGT A,A 1.647e-05 17:5448855 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 missense_variant 2.687504 0.95421 0.11922 0.706548 0.91227200475605 0 0.0083822781334698 FALSE 2.03923e-05 ENSE00000678432_017 ENSE00000678432 017 17 5352093 5352262 - 36 87 47 C T 5352203 561 60 CTTTGTCACCCACAGAACACTAGGACCAGACGATACCTTTAAGCAGATGTCCCTCAGCTGTGCTCTGACTTCTGCTACCAGCGTCATATTCTTGCTGTTGACAAAATTCTTTTTGCACCAATCCTGAATAGGAGAAAGAGTGATATCACAATCCACTCATTCACCATTTA 5448772 5448942 5448882 5448883 5448883 exon 13 0.149425287356322 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAAAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 191 85 1 0.961675734086068 0.980837867043034 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.0332813022155954 0.142619963537756 0.995252817737534 0.892887234166359 NA 0.0879506328766755 NA FALSE NA 1 7.087 rs147158339 missense_variant MODERATE DHX33 HGNC 16718 ENST00000572490 10/11 rs147158339 1 deleterious(0.01) probably_damaging(0.92) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TCT C,T 2.471e-05 17:5448883 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 missense_variant 7.642562 0.99378 0.99641 0.706548 0.998967051277778 0 0.0083822781334698 FALSE NA ENSE00000678432_018 ENSE00000678432 018 17 5352093 5352262 - 36 87 47 T A 5352205 562 58 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCATAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 5448884 5448885 5448885 exon 11 0.126436781609195 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCATAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 749 1143 0.996054027452899 0.986464439162853 0.991259233307876 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.0293353296684947 0.16740866861454 0.995252817737534 0.892887234166359 NA 0.0983719991415176 NA FALSE NA 1 1.214 rs183575316 missense_variant MODERATE DHX33 HGNC 16718 ENST00000572490 10/11 rs183575316 1 tolerated(0.38) benign(0.271) A:0.0004 A:0.0008 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0001 TTT T,A 0.0001483 17:5448885 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 missense_variant 3.275192 0.97819 0.96024 0.706548 0.989371520389006 0 0.0083822781334698 FALSE 0.000150811 ENSE00000678432_019 ENSE00000678432 019 17 5352093 5352262 - 36 87 47 A T 5352213 563 50 CTTTGTCACCCACAGAACACTAGGACCAGACGATACCTTTAAGCAGATGTCCCTCAGCTGTGCTCTGACTTCTGCTACCAGCGTCATATTCTTGCTGTTGACAAAATTCTCTTTGCACCATTCCTGAATAGGAGAAAGAGTGATATCACAATCCACTCATTCACCATTTA 5448772 5448942 5448892 5448893 5448893 exon 3 0.0344827586206897 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGAATGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 260 91 0.99743961403872 0.8 0.89871980701936 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.0307209162543151 -0.0190557705483126 0.995252817737534 0.892887234166359 NA 0.00583257285300121 NA FALSE NA 0.098 -0.602 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:5448893 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 missense_variant -1.104614 0.46253 0.07475 0.706548 0.690777137857522 0 0.0083822781334698 FALSE 4.08037e-06 ENSE00000678432_021 ENSE00000678432 021 17 5352093 5352262 - 36 87 47 T C 5352221 565 42 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTGTTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 5448900 5448901 5448901 upstr_intron -6 -0.106382978723404 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTGTTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 370 235 1 1 1 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.0332813022155954 0.180944229451687 0.995252817737534 0.892887234166359 NA 0.107112765833641 NA FALSE NA 0.001 -1.365 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:5448901 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 splice_region_variant -0.045638 0.15292 0.01874 0.099367 0.61476690443134 0.131926 0.0083822781334698 FALSE 0.000151135 ENSE00000678432_022 ENSE00000678432 022 17 5352093 5352262 - 36 87 47 T G 5352221 566 42 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTCTTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 5448900 5448901 5448901 upstr_intron -6 -0.106382978723404 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTCTTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 294 125 1 1 1 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.0332813022155954 0.180944229451687 0.995252817737534 0.892887234166359 NA 0.107112765833641 NA FALSE NA 0.001 -1.365 NA NA NA DHX33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX33 NA NA NA ENSG00000005100 ENSE00003527641 splice_region_variant 0.184209 0.14936 0.02907 0.099367 0.658258785843029 0.131926 0.0083822781334698 FALSE 8.16947e-06 ENSE00000678432_023 ENSE00000678432 023 17 5352093 5352262 - 36 87 47 A T 5352228 567 35 CTTTGTCACCCACAGAACACTAGGACCAGACGATACCTTTAAGCAGATGTCCCTCAGCTGTGCTCTGACTTCTGCTACCAGCGTCATATTCTTGCTGTTGACAAAATTCTCTTTGCACCAATCCTGAATAGGAGATAGAGTGATATCACAATCCACTCATTCACCATTTA 5448772 5448942 5448907 5448908 5448908 upstr_intron -13 -0.25531914893617 TAAATGGTGAATGAGTGGATTGTGATATCACTCTATCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 107 372 0.0260365057558026 0.00796386584484042 0.0170001858003215 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA -0.940682192028602 -0.811091904703472 0.995252817737534 0.892887234166359 NA -0.875887048366037 NA TRUE NA 0 -0.104 . intron_variant MODIFIER DHX33 HGNC 16718 ENST00000572490 9/10 1 NA AAA A,T 8.237e-06 17:5448908 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 intron_variant -0.31064 0.21244 0.08349 0.099367 0.715024569448232 0.127784 0.0083822781334698 FALSE 4.09554e-06 ENSE00000678432_025 ENSE00000678432 025 17 5352093 5352262 - 36 87 47 A G 5352237 569 26 CTTTGTCACCCACAGAACACTAGGACCAGACGATACCTTTAAGCAGATGTCCCTCAGCTGTGCTCTGACTTCTGCTACCAGCGTCATATTCTTGCTGTTGACAAAATTCTCTTTGCACCAATCCTGAATAGGAGAAAGAGTGATGTCACAATCCACTCATTCACCATTTA 5448772 5448942 5448916 5448917 5448917 upstr_intron -22 -0.446808510638298 TAAATGGTGAATGAGTGGATTGTGACATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 351 168 1 0.982666593911482 0.991333296955741 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.0332813022155954 0.163610823363169 0.995252817737534 0.892887234166359 NA 0.0984460627893824 NA FALSE NA 0 -0.422 . intron_variant MODIFIER DHX33 HGNC 16718 ENST00000572490 9/10 1 NA TAT A,G 2.471e-05 17:5448917 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 intron_variant 0.112636 0.12646 0.03681 0.099367 0.354117642939089 0.0530184 0.0083822781334698 FALSE 1.23486e-05 ENSE00000678432_027 ENSE00000678432 027 17 5352093 5352262 - 36 87 47 A G 5352251 571 12 CTTTGTCACCCACAGAACACTAGGACCAGACGATACCTTTAAGCAGATGTCCCTCAGCTGTGCTCTGACTTCTGCTACCAGCGTCATATTCTTGCTGTTGACAAAATTCTCTTTGCACCAATCCTGAATAGGAGAAAGAGTGATATCACAATCCACTCGTTCACCATTTA 5448772 5448942 5448930 5448931 5448931 upstr_intron -36 -0.74468085106383 TAAATGGTGAACGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 545 36 0.998556394842352 1 0.999278197421176 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA 0.031837697057947 0.180944229451687 0.995252817737534 0.892887234166359 NA 0.106390963254817 NA FALSE NA 0.053 0.119 . intron_variant MODIFIER DHX33 HGNC 16718 ENST00000572490 9/10 1 NA CAT A,G 8.237e-06 17:5448931 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 intron_variant 0.20008 0.17826 0.06089 0.099367 0.700193805645009 0.0530184 0.0083822781334698 FALSE 4.18831e-06 ENSE00000678432_BRK ENSE00000678432 BRK 17 5352093 5352262 - 36 87 47 A,G; T,T NA NA NA TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCTTGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGCCATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 NA NA NA NA NA NA TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCTTGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGCCATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG control NA NA NA NA NA 232 310 0.0881436189226835 0.0829799356470833 0.0855617772848834 0.993941111471036 0.996564524004032 0.966718697784405 0.819055770548313 NA NA -0.878575078861721 -0.736075834901229 0.995252817737534 0.892887234166359 NA -0.807325456881475 NA TRUE NA NA NA NA NA NA DHX33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX33 NA NA NA ENSG00000005100 ENSE00003527641 NA NA NA NA NA NA NA 0.0083822781334698 FALSE NA ENSE00000678652_000 ENSE00000678652 000 7 38254578 38254747 + 51 78 41 NA NA NA NA NA GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 NA NA NA NA NA NA GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT natural 21 44 0.995172581014099 0.993666067187582 0.994419324100841 1447 4669 0.899808277034649 0.931114140002715 0.915461208518682 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 0 0 0 0 0.994419324100841 0.915461208518682 0 0 0 FALSE FALSE NA NA NA NA NA STARD3NL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STARD3NL NA NA NA ENSG00000010270 ENSE00000678652 NA NA NA NA NA NA NA 0.00554582817086751 FALSE NA ENSE00000678652_002 ENSE00000678652 002 7 38254578 38254747 + 51 78 41 A G 38254591 858 14 GTCATTTTTGTATGTATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38214989 38214990 38214990 upstr_intron -38 -0.725490196078431 GTCATTTTTGTATGTATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 321 525 0.98435943076534 1 0.99217971538267 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.0845511537306909 0.0688858599972855 0.994419324100841 0.915461208518682 NA 0.0767185068639882 NA FALSE NA 0.003 0.344 . intron_variant MODIFIER STARD3NL HGNC 19169 ENST00000434197 3/7 1 NA TAT A,G 8.241e-06 7:38214990 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 intron_variant -0.038317 0.14832 0.00894 0.295142 0.542080713317862 0.0455939 0.00554582817086751 FALSE 4.3299e-06 ENSE00000678652_004 ENSE00000678652 004 7 38254578 38254747 + 51 78 41 T G 38254597 860 20 GTCATTTTTGTATATATTTGTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38214995 38214996 38214996 upstr_intron -32 -0.607843137254902 GTCATTTTTGTATATATTTGTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 207 322 0.865090726156782 1 0.932545363078391 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA -0.034717550877867 0.0688858599972855 0.994419324100841 0.915461208518682 NA 0.0170841545597092 NA FALSE NA 0.022 0.999 . intron_variant MODIFIER STARD3NL HGNC 19169 ENST00000434197 3/7 1 NA TTT T,G 1.648e-05 7:38214996 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 intron_variant 0.056932 0.22869 0.26183 0.295142 0.608904562656584 0.0455939 0.00554582817086751 FALSE 1.68712e-05 ENSE00000678652_005 ENSE00000678652 005 7 38254578 38254747 + 51 78 41 A T 38254605 861 28 GTCATTTTTGTATATATTTTTTAAAACTTCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215003 38215004 38215004 upstr_intron -24 -0.450980392156863 GTCATTTTTGTATATATTTTTTAAAACTTCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 221 156 1 0.996764202126965 0.998382101063482 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.100191722965351 0.0656500621242501 0.994419324100841 0.915461208518682 NA 0.0829208925448004 NA FALSE NA 0.112 0.291 . intron_variant MODIFIER STARD3NL HGNC 19169 ENST00000434197 3/7 1 NA CAT A,T 8.239e-06 7:38215004 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 intron_variant -0.204534 0.08176 0.02008 0.295142 0.403367565038366 0.0455939 0.00554582817086751 FALSE NA ENSE00000678652_006 ENSE00000678652 006 7 38254578 38254747 + 51 78 41 T C 38254631 862 54 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTCCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215029 38215030 38215030 exon 3 0.0384615384615385 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTCCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 15 342 1 0.971384694124568 0.985692347062284 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.100191722965351 0.0402705541218537 0.994419324100841 0.915461208518682 NA 0.0702311385436022 NA FALSE NA 0 -1.059 . splice_region_variant&synonymous_variant LOW STARD3NL HGNC 19169 ENST00000434197 4/8 1 NA TTC T,C 8.238e-06 7:38215030 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 splice_region_variant 0.8941 0.9407 0.14645 0.706298 0.631278480124516 0 0.00554582817086751 FALSE 4.07894e-06 ENSE00000678652_007 ENSE00000678652 007 7 38254578 38254747 + 51 78 41 C T 38254644 863 67 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTTGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215042 38215043 38215043 exon 16 0.205128205128205 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTTGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 77 47 0.841911148473114 0.978911441872741 0.910411295172928 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA -0.0578971285615349 0.0477973018700267 0.994419324100841 0.915461208518682 NA -0.00504991334575411 NA FALSE NA 1 3.686 . stop_gained HIGH STARD3NL HGNC 19169 ENST00000434197 4/8 rs267601506 1 NA T:0.0002 T:0 HC TCG C,T 8.238e-06 7:38215043 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 stop_gained 14.981426 0.98616 0.96605 0.706298 0.997878567279835 0 0.00554582817086751 FALSE 8.15295e-06 ENSE00000678652_008 ENSE00000678652 008 7 38254578 38254747 + 51 78 41 G A 38254645 864 68 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCAATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215043 38215044 38215044 exon 17 0.217948717948718 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCAATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 112 166 1 1 1 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.100191722965351 0.0688858599972855 0.994419324100841 0.915461208518682 NA 0.0845387914813181 NA FALSE NA 1 9.43 . missense_variant MODERATE STARD3NL HGNC 19169 ENST00000434197 4/8 COSM1622826 1 deleterious(0) probably_damaging(0.999) NA CGA G,A 8.238e-06 7:38215044 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 missense_variant 7.690595 0.98991 0.991 0.706298 0.999509810252693 0 0.00554582817086751 FALSE 8.15228e-06 ENSE00000678652_009 ENSE00000678652 009 7 38254578 38254747 + 51 78 41 A T 38254661 865 84 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATTCTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215059 38215060 38215060 exon 33 0.423076923076923 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATTCTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 496 1026 0.661425903164174 0.809759819605082 0.735592861384628 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA -0.238382373870475 -0.121354320397632 0.994419324100841 0.915461208518682 NA -0.179868347134054 NA FALSE NA 0.579 0.74 . synonymous_variant LOW STARD3NL HGNC 19169 ENST00000434197 4/8 COSM285408 1 NA TAC A,T 0.0007249 7:38215060 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 synonymous_variant 0.008821 0.94436 0.77988 0.706298 0.765368492153063 0 0.00554582817086751 FALSE 0.000835058 ENSE00000678652_010 ENSE00000678652 010 7 38254578 38254747 + 51 78 41 A T 38254667 866 90 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCTTATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215065 38215066 38215066 exon 39 0.5 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCTTATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 240 55 0.987743597464439 0.999305042700642 0.993524320082541 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.0879353204297901 0.0681909026979272 0.994419324100841 0.915461208518682 NA 0.0780631115638586 NA FALSE NA 0 -0.959 NA NA NA STARD3NL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:38215066 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 synonymous_variant 0.310731 0.23492 0.06672 0.706298 0.583956382774126 0 0.00554582817086751 FALSE 4.07322e-06 ENSE00000678652_012 ENSE00000678652 012 7 38254578 38254747 + 51 78 41 G T 38254676 868 99 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTTTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215074 38215075 38215075 exon -31 0.615384615384615 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTTTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 300 333 1 0.999524771723233 0.999762385861616 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.100191722965351 0.068410631720518 0.994419324100841 0.915461208518682 NA 0.0843011773429344 NA FALSE NA 0 -1.172 . synonymous_variant LOW STARD3NL HGNC 19169 ENST00000434197 4/8 1 NA TGT G,T 1.647e-05 7:38215075 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 synonymous_variant 0.791443 0.76347 0.13759 0.706298 0.688688254651895 0 0.00554582817086751 FALSE 3.66593e-05 ENSE00000678652_013 ENSE00000678652 013 7 38254578 38254747 + 51 78 41 C T 38254679 869 102 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGTAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215077 38215078 38215078 exon -28 0.653846153846154 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGTAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 335 133 1 1 1 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.100191722965351 0.0688858599972855 0.994419324100841 0.915461208518682 NA 0.0845387914813181 NA FALSE NA 0.742 0.994 . synonymous_variant LOW STARD3NL HGNC 19169 ENST00000434197 4/8 rs545795743 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCA C,T 8.238e-06 7:38215078 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 synonymous_variant 1.318701 0.97795 0.7918 0.706298 0.70495208721899 0 0.00554582817086751 FALSE NA ENSE00000678652_015 ENSE00000678652 015 7 38254578 38254747 + 51 78 41 C T 38254686 871 109 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGTGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215084 38215085 38215085 exon -21 0.743589743589744 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGTGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 819 638 0.993482696779009 0.981237588679689 0.987360142729349 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.0936744197443595 0.0501234486769747 0.994419324100841 0.915461208518682 NA 0.0718989342106671 NA FALSE NA 1 3.666 . missense_variant MODERATE STARD3NL HGNC 19169 ENST00000434197 4/8 1 deleterious(0) probably_damaging(0.999) NA GCG C,T 8.238e-06 7:38215085 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 missense_variant 7.760537 0.98067 0.94823 0.706298 0.999296274139573 0 0.00554582817086751 FALSE NA ENSE00000678652_016 ENSE00000678652 016 7 38254578 38254747 + 51 78 41 G A 38254687 872 110 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCACCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215085 38215086 38215086 exon -20 0.756410256410256 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCACCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 130 797 0.980809804918146 0.877894259130482 0.929352032024314 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.0810015278834963 -0.0532198808722321 0.994419324100841 0.915461208518682 NA 0.0138908235056321 NA FALSE NA 1 6.352 . missense_variant MODERATE STARD3NL HGNC 19169 ENST00000434197 4/8 1 deleterious(0) probably_damaging(0.999) NA CGC G,A 2.471e-05 7:38215086 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 missense_variant 7.396449 0.98562 0.97833 0.706298 0.999340481051332 0 0.00554582817086751 FALSE 2.44475e-05 ENSE00000678652_017 ENSE00000678652 017 7 38254578 38254747 + 51 78 41 C T 38254688 873 111 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGTCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215086 38215087 38215087 exon -19 0.769230769230769 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGTCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 1625 820 0.970220006152678 0.846526818999275 0.908373412575976 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.0704117291180285 -0.0845873210034397 0.994419324100841 0.915461208518682 NA -0.00708779594270559 NA FALSE NA 0.986 0.243 . synonymous_variant LOW STARD3NL HGNC 19169 ENST00000434197 4/8 1 NA GCC C,T 8.238e-06 7:38215087 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 synonymous_variant 1.877484 0.96324 0.81125 0.706298 0.696623169650222 0 0.00554582817086751 FALSE 8.1477e-06 ENSE00000678652_018 ENSE00000678652 018 7 38254578 38254747 + 51 78 41 A G 38254701 874 124 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAGTAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215099 38215100 38215100 exon -6 0.935897435897436 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAGTAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 115 691 0.853111093374091 0.992079401011179 0.922595247192635 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA -0.0466971836605579 0.0609652610084641 0.994419324100841 0.915461208518682 NA 0.00713403867395312 NA FALSE NA 0.989 2.941 . missense_variant MODERATE STARD3NL HGNC 19169 ENST00000434197 4/8 rs574853669 1 tolerated(0.34) benign(0.016) NA AAT A,G 8.237e-06 7:38215100 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 missense_variant 1.209009 0.96267 0.89665 0.706298 0.964018014730554 0 0.00554582817086751 FALSE 4.07498e-06 ENSE00000678652_021 ENSE00000678652 021 7 38254578 38254747 + 51 78 41 G A 38254707 877 130 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGATGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215105 38215106 38215106 downstr_intron 1 1.025 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGATGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 585 69 0.0138227902829876 0.00737704834108636 0.010599919312037 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA -0.885985486751662 -0.923737091661628 0.994419324100841 0.915461208518682 NA -0.904861289206645 NA TRUE NA 1 9.468 . splice_donor_variant HIGH STARD3NL HGNC 19169 ENST00000434197 4/7 1 NA HC GGT G,A 8.237e-06 7:38215106 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 splice_donor_variant 6.057939 0.99418 0.99439 0.295142 0.995781806260194 0.987686 0.00554582817086751 FALSE 4.07747e-06 ENSE00000678652_022 ENSE00000678652 022 7 38254578 38254747 + 51 78 41 G T 38254715 878 138 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATTCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 38215113 38215114 38215114 downstr_intron 9 1.225 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATTCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 227 151 1 0.996844799087006 0.998422399543503 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.100191722965351 0.0657306590842911 0.994419324100841 0.915461208518682 NA 0.0829611910248209 NA FALSE NA 0 0.037 . intron_variant MODIFIER STARD3NL HGNC 19169 ENST00000434197 4/7 1 NA TGC G,T 1.647e-05 7:38215114 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 non_coding_transcript_exon_variant 0.601102 0.18728 0.09028 0.099367 0.731714240446258 0.178457 0.00554582817086751 FALSE 4.0802e-06 ENSE00000678652_023 ENSE00000678652 023 7 38254578 38254747 + 51 78 41 G A 38254730 879 153 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGATCATCTCCTCCAGTGCT 38214976 38215146 38215128 38215129 38215129 downstr_intron 24 1.6 GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGATCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT mutant NA NA NA NA NA 137 1069 1 0.998150656374072 0.999075328187036 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 NA NA 0.100191722965351 0.0670365163713579 0.994419324100841 0.915461208518682 NA 0.0836141196683543 NA FALSE NA 0.012 0.159 . intron_variant MODIFIER STARD3NL HGNC 19169 ENST00000434197 4/7 1 NA GGT G,A 8.238e-06 7:38215129 STARD3NL HGNC Symbol protein_coding 52449 ENSG00000010270 ENSE00000678652 non_coding_transcript_exon_variant 0.137056 0.16537 0.03868 0.099367 0.608405627631088 0.107714 0.00554582817086751 FALSE 4.09082e-06 ENSE00000678652_BRK ENSE00000678652 BRK 7 38254578 38254747 + 51 78 41 A,G; T,T NA NA NA GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCTTCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGCCGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT 38214976 38215146 NA NA NA NA NA NA GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCTTCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGCCGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT GTCATTTTTGTATATATTTTTTAAAACATCCCTTTATTTTCTTACTTTCAGCTTCTGGCAGTTTTTCGATTTAAAGTGTTAATACTTGCATATGCTGTGTGCAGACTGCGCCATTGGTGGGCAATAGCGGTGAGTATGCCCTGCATGAGTGGGTCATCTCCTCCAGTGCT control 51 157 0.0255695553717319 0 0.012784777685866 844 1138 0 0.0162458480380223 0.00812292401901115 0.995172581014099 0.993666067187582 0.899808277034649 0.931114140002715 -0.969603025642367 -0.993666067187582 -0.899808277034649 -0.914868291964692 0.994419324100841 0.915461208518682 -0.981634546414975 -0.907338284499671 0.0742962619153039 TRUE TRUE NA NA NA NA NA STARD3NL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STARD3NL NA NA NA ENSG00000010270 ENSE00000678652 NA NA NA NA NA NA NA 0.00554582817086751 FALSE NA ENSE00000679011_000 ENSE00000679011 000 7 38794248 38794417 - 54 51 65 NA NA NA NA NA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 NA NA NA NA NA NA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA natural 28 20 0.994157712731634 0.924362642324105 0.95926017752787 2947 3565 0.914704705096839 0.92293487426812 0.91881978968248 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 0 0 0 0 0.95926017752787 0.91881978968248 0 0 0 FALSE FALSE NA NA NA NA NA VPS41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS41 NA NA NA ENSG00000006715 ENSE00000679011 NA NA NA NA NA NA NA 1.16349819146267e-08 FALSE NA ENSE00000679011_001 ENSE00000679011 001 7 38794248 38794417 - 54 51 65 G A 38794262 897 156 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGATCAGTGGGTGAATCA 38754647 38754817 38754661 38754662 38754662 downstr_intron 40 1.75471698113208 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGATCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 36 14 1 0.954589375384159 0.977294687692079 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0852952949031608 0.0316545011160388 0.95926017752787 0.91881978968248 NA 0.0584748980095998 NA FALSE NA 0 -1.012 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 21/28 1 NA GGT G,A 8.239e-06 7:38754662 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 intron_variant -0.281736 0.0961 0.00955 0.156188 0.380598696242184 0.046875 1.16349819146267e-08 FALSE 4.11181e-06 ENSE00000679011_002 ENSE00000679011 002 7 38794248 38794417 - 54 51 65 A G 38794269 898 149 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTCGATTGACCAGTGGGTGAATCA 38754647 38754817 38754668 38754669 38754669 downstr_intron 33 1.62264150943396 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTCGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 17 310 1 0.987313923914653 0.993656961957326 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0852952949031608 0.0643790496465325 0.95926017752787 0.91881978968248 NA 0.0748371722748467 NA FALSE NA 0.003 0.413 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 21/28 1 NA CAA A,G 1.648e-05 7:38754669 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 intron_variant 0.359372 0.1498 0.07093 0.156188 0.760912105628636 0.046875 1.16349819146267e-08 FALSE 8.20728e-06 ENSE00000679011_003 ENSE00000679011 003 7 38794248 38794417 - 54 51 65 A C 38794277 899 141 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTGGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754676 38754677 38754677 downstr_intron 25 1.47169811320755 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTGGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 45 74 1 1 1 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0852952949031608 0.07706512573188 0.95926017752787 0.91881978968248 NA 0.0811802103175204 NA FALSE NA 0.329 0.851 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 21/28 rs551944850 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CAA A,C 8.239e-06 7:38754677 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 intron_variant 1.870502 0.94019 0.44238 0.156188 0.843261821454273 0.046875 1.16349819146267e-08 FALSE 4.09286e-06 ENSE00000679011_004 ENSE00000679011 004 7 38794248 38794417 - 54 51 65 G T 38794291 900 127 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGAAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754690 38754691 38754691 downstr_intron 11 1.20754716981132 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGAAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 218 857 1 0.998701707959363 0.999350853979682 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0852952949031608 0.0757668336912432 0.95926017752787 0.91881978968248 NA 0.080531064297202 NA FALSE NA 0 0.916 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 21/28 1 NA TGC G,T 4.943e-05 7:38754691 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 intron_variant -0.059868 0.29974 0.1816 0.295142 0.312239682506114 0.046875 1.16349819146267e-08 FALSE 8.99134e-05 ENSE00000679011_005 ENSE00000679011 005 7 38794248 38794417 - 54 51 65 C T 38794293 901 125 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATAGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754692 38754693 38754693 downstr_intron 9 1.16981132075472 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATAGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 305 1006 0.997820915075583 0.99996216134444 0.998891538210012 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.083116209978744 0.0770272870763198 0.95926017752787 0.91881978968248 NA 0.0800717485275319 NA FALSE NA 0 -0.255 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 21/28 1 NA CCA C,T 8.239e-06 7:38754693 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 intron_variant 0.093514 0.22664 0.03594 0.295142 0.326578853658574 0.046323 1.16349819146267e-08 FALSE 4.0871e-06 ENSE00000679011_006 ENSE00000679011 006 7 38794248 38794417 - 54 51 65 G A 38794296 902 122 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGTATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754695 38754696 38754696 downstr_intron 6 1.11320754716981 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGTATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 249 76 0.979979777041232 0.997913313142711 0.988946545091972 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0652750719443932 0.0749784388745914 0.95926017752787 0.91881978968248 NA 0.0701267554094923 NA FALSE NA 0.009 0.265 . splice_region_variant&intron_variant LOW VPS41 HGNC 12713 ENST00000310301 21/28 1 NA TGC G,A 1.648e-05 7:38754696 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 splice_region_variant -0.12706 0.24801 0.06026 0.295142 0.211754820110837 0.108426 1.16349819146267e-08 FALSE 8.17167e-06 ENSE00000679011_007 ENSE00000679011 007 7 38794248 38794417 - 54 51 65 A G 38794303 903 115 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGCGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754702 38754703 38754703 exon -2 0.980392156862745 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGCGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 607 250 0.989407933102433 1 0.994703966551216 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0747032280055936 0.07706512573188 0.95926017752787 0.91881978968248 NA 0.0758841768687368 NA FALSE NA 1 7.458 . missense_variant&splice_region_variant MODERATE VPS41 HGNC 12713 ENST00000310301 21/29 1 tolerated(0.59) benign(0.01) NA CAC A,G 8.238e-06 7:38754703 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 missense_variant 0.403912 0.99002 0.9914 0.706548 0.728423743346207 0 1.16349819146267e-08 FALSE 4.08477e-06 ENSE00000679011_009 ENSE00000679011 009 7 38794248 38794417 - 54 51 65 G C 38794313 905 105 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGGTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754712 38754713 38754713 exon -12 0.784313725490196 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGGTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 918 717 0.978233078867625 0.975764950347962 0.976999014607794 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0635283737707861 0.052830076079842 0.95926017752787 0.91881978968248 NA 0.0581792249253141 NA FALSE NA 0.835 0.935 . missense_variant MODERATE VPS41 HGNC 12713 ENST00000310301 21/29 1 tolerated(0.13) possibly_damaging(0.644) NA AGC G,C 8.238e-06 7:38754713 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 missense_variant 1.595127 0.96969 0.91702 0.706548 0.990424700515373 0 1.16349819146267e-08 FALSE 4.0865e-06 ENSE00000679011_010 ENSE00000679011 010 7 38794248 38794417 - 54 51 65 G C 38794319 906 99 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGAGCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754718 38754719 38754719 exon -18 0.666666666666667 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGAGCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 510 109 0.984048025845817 0.991155375058907 0.987601700452362 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0693433207489779 0.068220500790787 0.95926017752787 0.91881978968248 NA 0.0687819107698824 NA FALSE NA 1 9.849 . missense_variant MODERATE VPS41 HGNC 12713 ENST00000310301 21/29 1 tolerated(0.12) probably_damaging(0.929) NA GGT G,C 8.238e-06 7:38754719 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 missense_variant 3.750719 0.99606 0.99699 0.706548 0.991966321410179 0 1.16349819146267e-08 FALSE NA ENSE00000679011_011 ENSE00000679011 011 7 38794248 38794417 - 54 51 65 T C 38794335 907 83 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAGGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754734 38754735 38754735 exon 18 0.352941176470588 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAGGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 78 182 0.891042649234185 0.878992519696114 0.88501758446515 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA -0.0236620558626539 -0.043942354572006 0.95926017752787 0.91881978968248 NA -0.03380220521733 NA FALSE NA 1 0.998 . synonymous_variant LOW VPS41 HGNC 12713 ENST00000310301 21/29 rs201261315 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTT T,C 8.239e-06 7:38754735 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 synonymous_variant -0.531332 0.9766 0.84673 0.706548 0.455934393553409 0 1.16349819146267e-08 FALSE 4.09323e-06 ENSE00000679011_013 ENSE00000679011 013 7 38794248 38794417 - 54 51 65 A C 38794367 909 51 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTGTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754766 38754767 38754767 upstr_intron -15 -0.215384615384615 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTGTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 859 71 0.999182696609497 1 0.999591348304748 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0844779915126573 0.07706512573188 0.95926017752787 0.91881978968248 NA 0.0807715586222686 NA FALSE NA 0 -0.102 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 20/28 1 NA AAA A,C 8.24e-06 7:38754767 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 intron_variant -0.171904 0.26048 0.13807 0.062308 0.686103861010043 0.0771559 1.16349819146267e-08 FALSE 4.12633e-06 ENSE00000679011_015 ENSE00000679011 015 7 38794248 38794417 - 54 51 65 A C 38794382 911 36 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACGCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754781 38754782 38754782 upstr_intron -30 -0.446153846153846 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACGCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 319 906 1 0.992286686334891 0.996143343167445 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0852952949031608 0.0693518120667709 0.95926017752787 0.91881978968248 NA 0.0773235534849658 NA FALSE NA 0 -0.177 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 20/28 1 NA GAG A,C 8.24e-06 7:38754782 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 intron_variant 0.133105 0.50076 0.4218 0.062308 0.31446286693258 0.865691 1.16349819146267e-08 FALSE 4.15341e-06 ENSE00000679011_016 ENSE00000679011 016 7 38794248 38794417 - 54 51 65 C T 38794385 912 33 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATAACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA 38754647 38754817 38754784 38754785 38754785 upstr_intron -33 -0.492307692307692 AGATAATTTTGTAGCTGTCTTTCTGTCCTCATAACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA AGATAATTTTGTAGCTGTCTTTCTGTCCTCATGACTCCACCTTGAAACTTTTCTTTTTTATCTAGATTAAAAAGGTAGTGGAAGAATTGGAAGACAGACCAGAGCTACAGCATGTGGTGAGCATGGCAGTCTCCTCCTTTTGCCCTTTTGATTGACCAGTGGGTGAATCA mutant NA NA NA NA NA 240 45 0.986976452692558 1 0.993488226346279 0.994157712731634 0.924362642324105 0.914704705096839 0.92293487426812 NA NA 0.0722717475957184 0.07706512573188 0.95926017752787 0.91881978968248 NA 0.0746684366637992 NA FALSE NA 0 -0.28 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 20/28 1 NA TCA C,T 1.648e-05 7:38754785 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679011 intron_variant 0.040993 0.09211 0.00122 0.062308 0.422832934311139 0.0926282 1.16349819146267e-08 FALSE 1.24774e-05 ENSE00000679048_000 ENSE00000679048 000 15 42713215 42713384 - 44 72 54 NA NA NA NA NA GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 NA NA NA NA NA NA GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC natural 22 26 1 0.995970197892558 0.997985098946279 4693 3135 0.942718622099179 0.842492665703665 0.892605643901422 1 0.995970197892558 0.942718622099179 0.842492665703665 0 0 0 0 0.997985098946279 0.892605643901422 0 0 0 FALSE FALSE NA NA NA NA NA ZNF106 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF106 NA NA NA ENSG00000103994 ENSE00003472556 NA NA NA NA NA NA NA 0.219458519047887 FALSE NA ENSE00000679048_001 ENSE00000679048 001 15 42713215 42713384 - 44 72 54 T C 42713229 738 156 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGGCTTCTATAGGTTGC 42421016 42421186 42421030 42421031 42421031 downstr_intron 30 1.69767441860465 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGGCTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 698 1029 0.995715386636895 1 0.997857693318448 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.0529967645377166 0.157507334296335 0.997985098946279 0.892605643901422 NA 0.105252049417026 NA FALSE NA 0 0.797 . intron_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 4/4 rs370437267 1 NA C:0.0002 C:0 GTC T,C 8.236e-06 15:42421031 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 intron_variant 0.381 0.1935 0.19283 0.295142 0.651794978924743 0.115236 0.219458519047887 FALSE 4.06683e-06 ENSE00000679048_002 ENSE00000679048 002 15 42713215 42713384 - 44 72 54 C T 42713237 739 148 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTATCACTGGACTTCTATAGGTTGC 42421016 42421186 42421038 42421039 42421039 downstr_intron 22 1.51162790697674 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTATCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 1165 1067 0.873781645087166 0.997621002965299 0.935701324026233 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA -0.0689369770120123 0.155128337261634 0.997985098946279 0.892605643901422 NA 0.043095680124811 NA FALSE NA 0 -0.344 . intron_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 4/4 1 NA ACA C,T 8.236e-06 15:42421039 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 intron_variant 1.998755 0.16156 0.06568 0.295142 0.876188165952995 0.239462 0.219458519047887 FALSE 4.06504e-06 ENSE00000679048_003 ENSE00000679048 003 15 42713215 42713384 - 44 72 54 G A 42713240 740 145 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTTCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421041 42421042 42421042 downstr_intron 19 1.44186046511628 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTTCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 59 1338 1 0.999971551984769 0.999985775992384 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.0572813779008214 0.157478886281104 0.997985098946279 0.892605643901422 NA 0.107380132090963 NA FALSE NA 0.005 0.807 . intron_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 4/4 1 NA GGA G,A 8.236e-06 15:42421042 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 intron_variant 1.964117 0.29679 0.08473 0.295142 0.806936802050787 0.239462 0.219458519047887 FALSE 3.65848e-05 ENSE00000679048_004 ENSE00000679048 004 15 42713215 42713384 - 44 72 54 A G 42713242 741 143 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCCTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421043 42421044 42421044 downstr_intron 17 1.3953488372093 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCCTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 2181 1276 0.969482565233975 0.972224455192968 0.970853510213471 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.0267639431347966 0.129731789489303 0.997985098946279 0.892605643901422 NA 0.0782478663120498 NA FALSE NA 0 -0.154 . intron_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 4/4 1 NA AAG A,G 8.236e-06 15:42421044 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 intron_variant 2.018595 0.20216 0.0825 0.295142 0.771152525060977 0.239462 0.219458519047887 FALSE 4.06451e-06 ENSE00000679048_006 ENSE00000679048 006 15 42713215 42713384 - 44 72 54 C G 42713260 743 125 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTCGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421061 42421062 42421062 exon -2 0.986111111111111 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTCGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 2557 1901 0.997452020496174 0.994474496420764 0.995963258458469 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.0547333983969953 0.151981830717099 0.997985098946279 0.892605643901422 NA 0.103357614557047 NA FALSE NA 1 7.257 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ZNF106 HGNC 12886 ENST00000568906 4/5 1 NA CCA C,G 1.647e-05 15:42421062 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 missense_variant 5.643714 0.99491 0.99391 0.706548 0.985126291050656 0 0.219458519047887 FALSE 1.6253e-05 ENSE00000679048_009 ENSE00000679048 009 15 42713215 42713384 - 44 72 54 C T 42713294 746 91 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCATGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421095 42421096 42421096 exon -36 0.513888888888889 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCATGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 937 706 0.863179575396727 0.994409951586696 0.928794763491712 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA -0.0795390467024518 0.151917285883032 0.997985098946279 0.892605643901422 NA 0.03618911959029 NA FALSE NA 1 5.449 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 4/5 rs200477666 1 NA ACG C,T 1.647e-05 15:42421096 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 missense_variant 7.295036 0.99464 0.98801 0.706548 0.996501604620957 0 0.219458519047887 FALSE 1.6254e-05 ENSE00000679048_010 ENSE00000679048 010 15 42713215 42713384 - 44 72 54 G A 42713295 747 90 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCTGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421096 42421097 42421097 exon 36 0.5 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCTGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 501 396 1 0.998152880210653 0.999076440105326 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.0572813779008214 0.155660214506988 0.997985098946279 0.892605643901422 NA 0.106470796203905 NA FALSE NA 0.993 0.381 rs117563212 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 4/5 rs117563212 1 A:0.0006 A:0 A:0 NA A:0 A:0.003 A:0 A:0.0005 A:0.0009 CGG G,A 0.0009472 15:42421097 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 synonymous_variant 2.219601 0.95565 0.59324 0.706548 0.606280500037018 0 0.219458519047887 FALSE 0.000914225 ENSE00000679048_011 ENSE00000679048 011 15 42713215 42713384 - 44 72 54 C A 42713297 748 88 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGTCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421098 42421099 42421099 exon 34 0.472222222222222 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGTCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 491 1433 0.991038045558108 0.995894351599329 0.993466198578719 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.0483194234589294 0.153401685895665 0.997985098946279 0.892605643901422 NA 0.100860554677297 NA FALSE NA 1 4.482 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 4/5 1 NA GCC C,A 8.236e-06 15:42421099 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 missense_variant 4.964027 0.99126 0.98507 0.706548 0.996803854994814 0 0.219458519047887 FALSE 8.12665e-06 ENSE00000679048_012 ENSE00000679048 012 15 42713215 42713384 - 44 72 54 A G 42713313 749 72 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTACGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421114 42421115 42421115 exon 18 0.25 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTACGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 332 394 0.995615570127379 1 0.997807785063689 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.0528969480282002 0.157507334296335 0.997985098946279 0.892605643901422 NA 0.105202141162268 NA FALSE NA 0.597 -0.032 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 4/5 1 NA CAT A,G 2.471e-05 15:42421115 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 synonymous_variant 0.459486 0.96634 0.62853 0.706548 0.520827479862769 0 0.219458519047887 FALSE 1.2292e-05 ENSE00000679048_013 ENSE00000679048 013 15 42713215 42713384 - 44 72 54 G C 42713340 750 45 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTGTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421141 42421142 42421142 upstr_intron -10 -0.166666666666667 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTGTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 1119 479 0.945060320199854 0.995507007892908 0.970283664046381 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.00234169810067542 0.153014342189243 0.997985098946279 0.892605643901422 NA 0.0776780201449594 NA FALSE NA 0.929 0.374 . intron_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 3/4 1 NA AGA G,C 8.236e-06 15:42421142 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 intron_variant 1.293468 0.24249 0.7866 0.099367 0.690577362243596 0.353335 0.219458519047887 FALSE 4.06646e-06 ENSE00000679048_014 ENSE00000679048 014 15 42713215 42713384 - 44 72 54 T C 42713350 751 35 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTGTAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421151 42421152 42421152 upstr_intron -20 -0.351851851851852 GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTGTAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 500 764 0.84397803639203 0.993896668254886 0.918937352323458 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA -0.0987405857071485 0.151404002551222 0.997985098946279 0.892605643901422 NA 0.0263317084220367 NA FALSE NA 0.033 0.047 . intron_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 3/4 rs200675584 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATA T,C 8.236e-06 15:42421152 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 intron_variant 0.228044 0.15852 0.11219 0.099367 0.642915877600464 0.121008 0.219458519047887 FALSE 4.06994e-06 ENSE00000679048_016 ENSE00000679048 016 15 42713215 42713384 - 44 72 54 C T 42713368 753 17 GTTTTGTAGTTTGTATATATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 42421169 42421170 42421170 upstr_intron -38 -0.685185185185185 GTTTTGTAGTTTGTATATATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC mutant NA NA NA NA NA 735 623 0.999943995701905 0.999509807513265 0.999726901607585 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA 0.0572253736027259 0.157017141809601 0.997985098946279 0.892605643901422 NA 0.107121257706163 NA FALSE NA 0 -0.542 . intron_variant&non_coding_transcript_variant MODIFIER ZNF106 HGNC 12886 ENST00000568906 3/4 1 NA ACA C,T 1.647e-05 15:42421170 ZNF106 HGNC Symbol protein_coding 78300 ENSG00000103994 ENSE00003472556 intron_variant 0.796555 0.15134 0.0302 0.099367 0.734552604356517 0.119696 0.219458519047887 FALSE 1.63283e-05 ENSE00000679048_BRK ENSE00000679048 BRK 15 42713215 42713384 - 44 72 54 A,G; T,T NA NA NA GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCTTATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGCCAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC 42421016 42421186 NA NA NA NA NA NA GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCTTATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGCCAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC GTTTTGTAGTTTGTATGTATTTTGGTCTGATATTATAAACCTCTCTTTCTCCAGATTTACACTGGCTGTTATGATGGCAGTATTCAGGCCGTGAGGCTTAATCTGATGCAGAATTACCGCTGTTGGGTAAGGAGTGAAACTCTTCCTGTCACTGGACTTCTATAGGTTGC control NA NA NA NA NA 3193 573 0.0551645865069456 0.00792742186369946 0.0315460041853225 1 0.995970197892558 0.942718622099179 0.842492665703665 NA NA -0.887554035592233 -0.834565243839965 0.997985098946279 0.892605643901422 NA -0.861059639716099 NA TRUE NA NA NA NA NA NA ZNF106 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF106 NA NA NA ENSG00000103994 ENSE00003472556 NA NA NA NA NA NA NA 0.219458519047887 FALSE NA ENSE00000679136_000 ENSE00000679136 000 7 38869812 38869981 - 42 75 53 NA NA NA NA NA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 NA NA NA NA NA NA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA natural NA NA NA NA NA 6048 1717 0.994073441371496 0.882393522250626 0.938233481811061 NA NA 0.994073441371496 0.882393522250626 NA NA 0 0 NA 0.938233481811061 NA 0 NA FALSE NA NA NA NA NA NA VPS41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS41 NA NA NA ENSG00000006715 ENSE00000679136 NA NA NA NA NA NA NA 1.16349819146267e-08 FALSE NA ENSE00000679136_001 ENSE00000679136 001 7 38869812 38869981 - 42 75 53 T C 38869830 913 152 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCGGAGAGTTCTGTGGCGCCA 38830211 38830381 38830229 38830230 38830230 downstr_intron 24 1.58536585365854 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCGGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 502 114 0.998597963289089 1 0.999298981644545 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00452452191759267 0.117606477749374 NA 0.938233481811061 NA 0.0610654998334832 NA FALSE NA 0 -1.794 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 5/28 1 NA CTG T,C 8.236e-06 7:38830230 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -1.106825 0.13005 0.00609 0.156188 0.281418655630116 0.0510595 1.16349819146267e-08 FALSE 4.06547e-06 ENSE00000679136_003 ENSE00000679136 003 7 38869812 38869981 - 42 75 53 A G 38869833 915 149 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCACGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830232 38830233 38830233 downstr_intron 21 1.51219512195122 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCACGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 53 113 1 1 1 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00592655862850355 0.117606477749374 NA 0.938233481811061 NA 0.0617665181889387 NA FALSE NA 0 -1.143 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 5/28 1 NA CAT A,G 8.236e-06 7:38830233 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -1.147772 0.12244 0.00434 0.156188 0.358665472600065 0.0510595 1.16349819146267e-08 FALSE 4.06464e-06 ENSE00000679136_004 ENSE00000679136 004 7 38869812 38869981 - 42 75 53 G A 38869835 916 147 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTTATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830234 38830235 38830235 downstr_intron 19 1.46341463414634 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTTATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 620 902 0.998933109153236 0.997007515023892 0.997970312088564 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00485966778173919 0.114613992773266 NA 0.938233481811061 NA 0.0597368302775024 NA FALSE NA 0 0.311 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 5/28 1 NA TGA G,A 8.236e-06 7:38830235 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -0.915166 0.21558 0.05176 0.156188 0.485283198582677 0.0510595 1.16349819146267e-08 FALSE 4.06451e-06 ENSE00000679136_005 ENSE00000679136 005 7 38869812 38869981 - 42 75 53 C T 38869837 917 145 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGATCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830236 38830237 38830237 downstr_intron 17 1.41463414634146 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGATCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 28 102 1 1 1 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00592655862850355 0.117606477749374 NA 0.938233481811061 NA 0.0617665181889387 NA FALSE NA 0 -1.029 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 5/28 rs578177202 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACC C,T 2.471e-05 7:38830237 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -0.862042 0.21253 0.0494 0.156188 0.512946543400974 0.0510595 1.16349819146267e-08 FALSE 1.62561e-05 ENSE00000679136_006 ENSE00000679136 006 7 38869812 38869981 - 42 75 53 C A 38869843 918 139 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAATATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830242 38830243 38830243 downstr_intron 11 1.26829268292683 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAATATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 43 271 1 1 1 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00592655862850355 0.117606477749374 NA 0.938233481811061 NA 0.0617665181889387 NA FALSE NA 0 -2.665 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 5/28 1 NA TCT C,A 8.236e-06 7:38830243 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -1.198542 0.14927 0.01649 0.156188 0.406721602025056 0.0510595 1.16349819146267e-08 FALSE 4.06279e-06 ENSE00000679136_007 ENSE00000679136 007 7 38869812 38869981 - 42 75 53 C T 38869858 919 124 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGACAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830257 38830258 38830258 exon -5 0.946666666666667 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGACAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 13 144 0.996790685379743 1 0.998395342689871 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00271724400824613 0.117606477749374 NA 0.938233481811061 NA 0.06016186087881 NA FALSE NA 1 6.49 . missense_variant MODERATE VPS41 HGNC 12713 ENST00000310301 5/29 1 deleterious(0) probably_damaging(1) NA GCC C,T 1.647e-05 7:38830258 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 missense_variant 5.842651 0.99113 0.96959 0.706298 0.998476608796436 0 1.16349819146267e-08 FALSE 8.12539e-06 ENSE00000679136_008 ENSE00000679136 008 7 38869812 38869981 - 42 75 53 C T 38869872 920 110 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTATGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830271 38830272 38830272 exon -19 0.76 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTATGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 1003 29 0.990877298164222 1 0.995438649082111 NA NA 0.994073441371496 0.882393522250626 NA NA -0.00319614320727413 0.117606477749374 NA 0.938233481811061 NA 0.0572051672710499 NA FALSE NA 0.964 -0.015 . synonymous_variant LOW VPS41 HGNC 12713 ENST00000310301 5/29 1 NA ACA C,T 8.236e-06 7:38830272 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 synonymous_variant 0.936415 0.96163 0.59933 0.706298 0.790484365807147 0 1.16349819146267e-08 FALSE 2.03097e-05 ENSE00000679136_009 ENSE00000679136 009 7 38869812 38869981 - 42 75 53 A G 38869875 921 107 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGCGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830274 38830275 38830275 exon -22 0.72 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGCGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 129 147 0.999680544396457 0.999740689865814 0.999710617131135 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00560710302496048 0.117347167615188 NA 0.938233481811061 NA 0.0614771353200741 NA FALSE NA 0.098 -0.681 . synonymous_variant LOW VPS41 HGNC 12713 ENST00000310301 5/29 1 NA CAC A,G 8.236e-06 7:38830275 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 synonymous_variant -1.202995 0.93665 0.02583 0.706298 0.61809760758636 0 1.16349819146267e-08 FALSE 4.06227e-06 ENSE00000679136_010 ENSE00000679136 010 7 38869812 38869981 - 42 75 53 C T 38869877 922 105 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGAGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830276 38830277 38830277 exon -24 0.693333333333333 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGAGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 207 892 0.988511749632047 0.919704912849924 0.954108331240985 NA NA 0.994073441371496 0.882393522250626 NA NA -0.00556169173944987 0.0373113905992977 NA 0.938233481811061 NA 0.0158748494299239 NA FALSE NA 1 6.49 rs142066348 missense_variant MODERATE VPS41 HGNC 12713 ENST00000310301 5/29 1 deleterious(0.02) benign(0.124) NA CCC C,T 8.236e-06 7:38830277 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 missense_variant 4.373769 0.99113 0.96959 0.706298 0.998700542824789 0 1.16349819146267e-08 FALSE 3.24971e-05 ENSE00000679136_011 ENSE00000679136 011 7 38869812 38869981 - 42 75 53 T C 38869882 923 100 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCGCATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830281 38830282 38830282 exon -29 0.626666666666667 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCGCATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 498 1543 0.992984320057007 0.99858163275191 0.995782976404459 NA NA 0.994073441371496 0.882393522250626 NA NA -0.00108912131448913 0.116188110501284 NA 0.938233481811061 NA 0.0575494945933976 NA FALSE NA 1 6.669 . missense_variant MODERATE VPS41 HGNC 12713 ENST00000310301 5/29 rs537692821 1 deleterious(0.02) benign(0.209) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 GTG T,C 8.236e-06 7:38830282 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 missense_variant 2.319075 0.98869 0.96702 0.706298 0.982892892853017 0 1.16349819146267e-08 FALSE 4.06253e-06 ENSE00000679136_013 ENSE00000679136 013 7 38869812 38869981 - 42 75 53 A G 38869896 925 86 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGACGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830295 38830296 38830296 exon 33 0.44 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGACGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 54 874 1 1 1 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00592655862850355 0.117606477749374 NA 0.938233481811061 NA 0.0617665181889387 NA FALSE NA 1 4.877 rs150709658 synonymous_variant LOW VPS41 HGNC 12713 ENST00000310301 5/29 rs150709658 1 NA G:0 G:0.0001 CAT A,G 8.236e-06 7:38830296 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 synonymous_variant -0.113239 0.98905 0.95957 0.706298 0.572303637762368 0 1.16349819146267e-08 FALSE 4.06319e-06 ENSE00000679136_014 ENSE00000679136 014 7 38869812 38869981 - 42 75 53 T C 38869897 926 85 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGGTGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830296 38830297 38830297 exon 32 0.426666666666667 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGGTGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 365 61 0.998067346663076 0.994778883415163 0.996423115039119 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00399390529157961 0.112385361164536 NA 0.938233481811061 NA 0.058189633228058 NA FALSE NA 1 6.669 . missense_variant MODERATE VPS41 HGNC 12713 ENST00000310301 5/29 1 deleterious(0) probably_damaging(0.999) NA ATC T,C 8.236e-06 7:38830297 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 missense_variant 5.444598 0.98869 0.96702 0.706298 0.998334090609798 0 1.16349819146267e-08 FALSE 4.06299e-06 ENSE00000679136_017 ENSE00000679136 017 7 38869812 38869981 - 42 75 53 A C 38869932 929 50 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTGTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830331 38830332 38830332 upstr_intron -4 -0.0566037735849057 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTGTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 958 31 1 1 1 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00592655862850355 0.117606477749374 NA 0.938233481811061 NA 0.0617665181889387 NA FALSE NA 0 -0.907 . splice_region_variant&intron_variant LOW VPS41 HGNC 12713 ENST00000310301 4/28 rs200230132 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AAA A,C 8.237e-06 7:38830332 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 splice_region_variant -0.407889 0.21718 0.0723 0.062308 0.646265880363354 0.321306 1.16349819146267e-08 FALSE 4.06537e-06 ENSE00000679136_018 ENSE00000679136 018 7 38869812 38869981 - 42 75 53 C T 38869944 930 38 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTATCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830343 38830344 38830344 upstr_intron -16 -0.283018867924528 TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTATCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 1025 287 0.999638092139195 1 0.999819046069598 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00556465076769885 0.117606477749374 NA 0.938233481811061 NA 0.0615855642585363 NA FALSE NA 0.008 0.847 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 4/28 1 NA ACA C,T 8.236e-06 7:38830344 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -1.045581 0.20886 0.0547 0.062308 0.22536731505652 0.123403 1.16349819146267e-08 FALSE 4.06716e-06 ENSE00000679136_019 ENSE00000679136 019 7 38869812 38869981 - 42 75 53 A G 38869946 931 36 TTGATATATATTTTCCTGAAGTTTTACACATCTTTCTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830345 38830346 38830346 upstr_intron -18 -0.320754716981132 TTGATATATATTTTCCTGAAGTTTTACACATCTTTCTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 1138 1653 0.99607159553794 0.996397874814051 0.996234735175996 NA NA 0.994073441371496 0.882393522250626 NA NA 0.001998154166444 0.114004352563425 NA 0.938233481811061 NA 0.0580012533649344 NA FALSE NA 0.046 0.895 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 4/28 1 NA AAA A,G 8.236e-06 7:38830346 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -0.93649 0.30327 0.04229 0.062308 0.646058208795792 0.123403 1.16349819146267e-08 FALSE 4.06656e-06 ENSE00000679136_020 ENSE00000679136 020 7 38869812 38869981 - 42 75 53 G A 38869955 932 27 TTGATATATATTTTCCTGAAGTTTTATACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830354 38830355 38830355 upstr_intron -27 -0.490566037735849 TTGATATATATTTTCCTGAAGTTTTATACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 44 347 0.99906092259909 1 0.999530461299545 NA NA 0.994073441371496 0.882393522250626 NA NA 0.00498748122759396 0.117606477749374 NA 0.938233481811061 NA 0.0612969794884839 NA FALSE NA 0 0.048 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 4/28 1 NA TGT G,A 8.236e-06 7:38830355 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -1.066698 0.18234 0.00397 0.062308 0.391449029160103 0.123403 1.16349819146267e-08 FALSE 4.06967e-06 ENSE00000679136_021 ENSE00000679136 021 7 38869812 38869981 - 42 75 53 T C 38869956 933 26 TTGATATATATTTTCCTGAAGTTTTGCACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA 38830211 38830381 38830355 38830356 38830356 upstr_intron -28 -0.509433962264151 TTGATATATATTTTCCTGAAGTTTTGCACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA TTGATATATATTTTCCTGAAGTTTTACACATCTTTTTGTCTTTTTCTTTTTAGAGTCCTGTGAAGATAAATCAGATTAGCTTGGATGAAAGTGGAGAGCACATGGGTGTGTGTTCAGAGGATGGCAAGGTATGGCAAAGATGTGGTCATGCAGAGAGTTCTGTGGCGCCA mutant NA NA NA NA NA 37 342 0.944920418276761 0.987782432136419 0.96635142520659 NA NA 0.994073441371496 0.882393522250626 NA NA -0.0491530230947359 0.105388909885793 NA 0.938233481811061 NA 0.0281179433955283 NA FALSE NA 0 -1.327 rs113477160 intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 4/28 rs113477160 1 NA GTA T,C 1.647e-05 7:38830356 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00000679136 intron_variant -1.019802 0.15363 0.11228 0.062308 0.557100336272914 0.123403 1.16349819146267e-08 FALSE 1.62839e-05 ENSE00000680657_000 ENSE00000680657 000 13 37546064 37546233 - 50 60 60 NA NA NA NA NA ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 NA NA NA NA NA NA ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT natural NA NA NA NA NA 6430 2578 0.809636939701899 0.630255145810064 0.719946042755982 NA NA 0.809636939701899 0.630255145810064 NA NA 0 0 NA 0.719946042755982 NA 0 NA FALSE NA NA NA NA NA NA ALG5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALG5 NA NA NA ENSG00000120697 ENSE00000680657 NA NA NA NA NA NA NA 0.00342997463732752 FALSE NA ENSE00000680657_002 ENSE00000680657 002 13 37546064 37546233 - 50 60 60 C A 37546095 115 139 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGTCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36971957 36971958 36971958 downstr_intron 19 1.38775510204082 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGTCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 38 1096 1 0.995864976066575 0.997932488033288 NA NA 0.809636939701899 0.630255145810064 NA NA 0.190363060298101 0.365609830256511 NA 0.719946042755982 NA 0.277986445277306 NA FALSE NA 0 -1.804 . intron_variant MODIFIER ALG5 HGNC 20266 ENST00000413537 7/10 1 NA GCC C,A 8.236e-06 13:36971958 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 intron_variant 0.151069 0.14361 0.02398 0.322412 0.539348230781492 0.0455939 0.00342997463732752 FALSE 1.66409e-05 ENSE00000680657_005 ENSE00000680657 005 13 37546064 37546233 - 50 60 60 C A 37546119 118 115 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTTCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36971981 36971982 36971982 exon -6 0.916666666666667 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTTCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 211 58 0.948937757971799 1 0.974468878985899 NA NA 0.809636939701899 0.630255145810064 NA NA 0.139300818269899 0.369744854189936 NA 0.719946042755982 NA 0.254522836229918 NA FALSE NA 1 3.894 . missense_variant MODERATE ALG5 HGNC 20266 ENST00000413537 7/11 1 possibly_damaging(0.58) NA GCA C,A 8.237e-06 13:36971982 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 missense_variant 4.613898 0.98852 0.97565 0.732398 0.996530185036773 0 0.00342997463732752 FALSE 4.07691e-06 ENSE00000680657_006 ENSE00000680657 006 13 37546064 37546233 - 50 60 60 T C 37546122 119 112 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAGTTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36971984 36971985 36971985 exon -9 0.866666666666667 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAGTTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 26 80 0.8 0.8 0.8 NA NA 0.809636939701899 0.630255145810064 NA NA -0.00963693970189916 0.169744854189936 NA 0.719946042755982 NA 0.0800539572440183 NA FALSE NA 1 2.518 rs139380212 missense_variant MODERATE ALG5 HGNC 20266 ENST00000413537 7/11 rs139380212 1 benign(0.06) NA C:0.0002 C:0 ATT T,C 8.237e-06 13:36971985 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 missense_variant 1.084245 0.97913 0.87084 0.732398 0.969992351998979 0 0.00342997463732752 FALSE 4.07571e-06 ENSE00000680657_008 ENSE00000680657 008 13 37546064 37546233 - 50 60 60 A G 37546160 121 74 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTACAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36972022 36972023 36972023 exon 14 0.233333333333333 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTACAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 582 617 0.99649326842046 0.999487005126334 0.997990136773397 NA NA 0.809636939701899 0.630255145810064 NA NA 0.186856328718561 0.36923185931627 NA 0.719946042755982 NA 0.278044094017415 NA FALSE NA 1 8.085 . missense_variant MODERATE ALG5 HGNC 20266 ENST00000413537 7/11 1 possibly_damaging(0.899) NA TAT A,G 8.237e-06 13:36972023 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 missense_variant 6.370153 0.99211 0.99545 0.732398 0.997598647978894 0 0.00342997463732752 FALSE 8.17762e-06 ENSE00000680657_009 ENSE00000680657 009 13 37546064 37546233 - 50 60 60 T A 37546161 122 73 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTTTAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36972023 36972024 36972024 exon 13 0.216666666666667 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTTTAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 82 23 0.8 0.8 0.8 NA NA 0.809636939701899 0.630255145810064 NA NA -0.00963693970189916 0.169744854189936 NA 0.719946042755982 NA 0.0800539572440183 NA FALSE NA 1 5.277 rs145953194 missense_variant MODERATE ALG5 HGNC 20266 ENST00000413537 7/11 rs145953194 1 benign(0.122) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ATA T,A 8.237e-06 13:36972024 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 missense_variant 3.602994 0.99184 0.98704 0.732398 0.981088298775708 0 0.00342997463732752 FALSE 4.08857e-06 ENSE00000680657_010 ENSE00000680657 010 13 37546064 37546233 - 50 60 60 T C 37546168 123 66 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAGATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36972030 36972031 36972031 exon 6 0.1 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAGATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 47 1093 0.95 0.856800966988187 0.903400483494094 NA NA 0.809636939701899 0.630255145810064 NA NA 0.140363060298101 0.226545821178123 NA 0.719946042755982 NA 0.183454440738112 NA FALSE NA 1 1.307 rs142643375 synonymous_variant LOW ALG5 HGNC 20266 ENST00000413537 7/11 rs142643375 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0007 C:0 TTT T,C 0.0001318 13:36972031 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 synonymous_variant 0.018575 0.97019 0.7896 0.732398 0.528635188487927 0 0.00342997463732752 FALSE 8.20641e-05 ENSE00000680657_012 ENSE00000680657 012 13 37546064 37546233 - 50 60 60 C T 37546187 125 47 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTACTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36972049 36972050 36972050 upstr_intron -14 -0.216666666666667 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTACTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 183 678 0.00164382686278717 0.000944736903829131 0.00129428188330815 NA NA 0.809636939701899 0.630255145810064 NA NA -0.807993112839112 -0.629310408906235 NA 0.719946042755982 NA -0.718651760872674 NA TRUE NA 0 -0.576 . intron_variant MODIFIER ALG5 HGNC 20266 ENST00000413537 6/10 1 NA GCA C,T 8.237e-06 13:36972050 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 intron_variant 0.174007 0.20904 0.07417 0.088506 0.439271628602707 0.0443366 0.00342997463732752 FALSE NA ENSE00000680657_014 ENSE00000680657 014 13 37546064 37546233 - 50 60 60 A C 37546194 127 40 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACGATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36972056 36972057 36972057 upstr_intron -21 -0.333333333333333 ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACGATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 72 13 0.8 0.8 0.8 NA NA 0.809636939701899 0.630255145810064 NA NA -0.00963693970189916 0.169744854189936 NA 0.719946042755982 NA 0.0800539572440183 NA FALSE NA 0 -0.054 . intron_variant MODIFIER ALG5 HGNC 20266 ENST00000413537 6/10 1 NA TAG A,C 8.239e-06 13:36972057 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 intron_variant -0.465918 0.18655 0.03546 0.088506 0.655804244617831 0.0443366 0.00342997463732752 FALSE 4.29314e-06 ENSE00000680657_017 ENSE00000680657 017 13 37546064 37546233 - 50 60 60 T C 37546218 130 16 ATAAATATTTTTATTGGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT 36971926 36972096 36972080 36972081 36972081 upstr_intron -45 -0.733333333333333 ATAAATATTTTTATTGGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT ATAAATATTTTTATTAGTGATATTTAAATATTGAAAAACTATCTCTGCTTTTTCCCTCAGAATCAAATGGCTATAGCATGTGGATCTCGAGCTCATTTAGAAAAAGAATCAATTGCTCAGGTGAGACTTCATTAATTGGCATGGGACAGCCAATTAATTGGCTTTTATTT mutant NA NA NA NA NA 20 51 0.815994780283992 0.822781788850545 0.819388284567269 NA NA 0.809636939701899 0.630255145810064 NA NA 0.00635784058209299 0.192526643040481 NA 0.719946042755982 NA 0.0994422418112868 NA FALSE NA 0.001 0.85 . intron_variant MODIFIER ALG5 HGNC 20266 ENST00000413537 6/10 1 NA CTA T,C 5.841e-05 13:36972081 ALG5 HGNC Symbol protein_coding 50486 ENSG00000120697 ENSE00000680657 intron_variant 0.517297 0.41292 0.10181 0.106106 0.87840023647164 0.0443366 0.00342997463732752 FALSE 5.08213e-05 ENSE00000680817_000 ENSE00000680817 000 7 44247675 44247844 + 57 66 47 NA NA NA NA NA GCACCCCCGCCTCAGTTCTTGGGCTTGCTCTCCATCTTCCTGCTTACCAGAATGATTTTGGTCTCATCTAGTTCGGCCTGCACTTTAGTCATGGGATCAGCTTCTCGTGGGTTCTAGGAAAGAGTGAAAAATAATAAAGTCAGGACTGGAGTGGCTACCTGCAAACAAAA 44208075 44208245 NA NA NA NA NA NA TTTTGTTTGCAGGTAGCCACTCCAGTCCTGACTTTATTATTTTTCACTCTTTCCTAGAACCCACGAGAAGCTGATCCCATGACTAAAGTGCAGGCCGAACTAGATGAGACCAAAATCATTCTGGTAAGCAGGAAGATGGAGAGCAAGCCCAAGAACTGAGGCGGGGGTGC TTTTGTTTGCAGGTAGCCACTCCAGTCCTGACTTTATTATTTTTCACTCTTTCCTAGAACCCACGAGAAGCTGATCCCATGACTAAAGTGCAGGCCGAACTAGATGAGACCAAAATCATTCTGGTAAGCAGGAAGATGGAGAGCAAGCCCAAGAACTGAGGCGGGGGTGC natural NA NA NA NA NA 378 115 0.997912888550656 1 0.998956444275328 NA NA 0.997912888550656 1 NA NA 0 0 NA 0.998956444275328 NA 0 NA FALSE NA NA NA NA NA NA YKT6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YKT6 NA NA NA ENSG00000106636 ENSE00003620259 NA NA NA NA NA NA NA 0.852902232625853 FALSE NA ENSE00000680817_003 ENSE00000680817 003 7 44247675 44247844 + 57 66 47 A G 44247713 951 39 GCACCCCCGCCTCAGTTCTTGGGCTTGCTCTCCATCTTCCTGCTTACCAGAATGATTTTGGTCTCATCTAGTTCGGCCTGCACTTTAGTCATGGGATCAGCTTCTCGTGGGTTCTAGGAAAGAGTGAAAAACAATAAAGTCAGGACTGGAGTGGCTACCTGCAAACAAAA 44208075 44208245 44208113 44208114 44208114 upstr_intron -19 -0.315789473684211 TTTTGTTTGCAGGTAGCCACTCCAGTCCTGACTTTATTGTTTTTCACTCTTTCCTAGAACCCACGAGAAGCTGATCCCATGACTAAAGTGCAGGCCGAACTAGATGAGACCAAAATCATTCTGGTAAGCAGGAAGATGGAGAGCAAGCCCAAGAACTGAGGCGGGGGTGC TTTTGTTTGCAGGTAGCCACTCCAGTCCTGACTTTATTATTTTTCACTCTTTCCTAGAACCCACGAGAAGCTGATCCCATGACTAAAGTGCAGGCCGAACTAGATGAGACCAAAATCATTCTGGTAAGCAGGAAGATGGAGAGCAAGCCCAAGAACTGAGGCGGGGGTGC mutant NA NA NA NA NA 712 254 0.99994218612461 0.998640025514832 0.999291105819721 NA NA 0.997912888550656 1 NA NA 0.00202929757395387 -0.00135997448516845 NA 0.998956444275328 NA 0.000334661544392711 NA FALSE NA 0.28 -0.401 . intron_variant&non_coding_transcript_variant MODIFIER YKT6 HGNC 16959 ENST00000463014 1/1 1 NA TAT A,G 8.236e-06 7:44208114 YKT6 HGNC Symbol protein_coding 13326 ENSG00000106636 ENSE00003620259 intron_variant 1.882349 0.23076 0.04192 0.359288 0.864775426849372 0.140059 0.852902232625853 FALSE 4.07183e-06 ENSE00000680817_011 ENSE00000680817 011 7 44247675 44247844 + 57 66 47 A G 44247787 959 113 GCACCCCCGCCTCAGTTCTTGGGCTTGCTCTCCATCTTCCTGCTTACCAGAATGATTCTGGTCTCATCTAGTTCGGCCTGCACTTTAGTCATGGGATCAGCTTCTCGTGGGTTCTAGGAAAGAGTGAAAAATAATAAAGTCAGGACTGGAGTGGCTACCTGCAAACAAAA 44208075 44208245 44208187 44208188 44208188 exon -11 0.848484848484849 TTTTGTTTGCAGGTAGCCACTCCAGTCCTGACTTTATTATTTTTCACTCTTTCCTAGAACCCACGAGAAGCTGATCCCATGACTAAAGTGCAGGCCGAACTAGATGAGACCAGAATCATTCTGGTAAGCAGGAAGATGGAGAGCAAGCCCAAGAACTGAGGCGGGGGTGC TTTTGTTTGCAGGTAGCCACTCCAGTCCTGACTTTATTATTTTTCACTCTTTCCTAGAACCCACGAGAAGCTGATCCCATGACTAAAGTGCAGGCCGAACTAGATGAGACCAAAATCATTCTGGTAAGCAGGAAGATGGAGAGCAAGCCCAAGAACTGAGGCGGGGGTGC mutant NA NA NA NA NA 37 165 1 1 1 NA NA 0.997912888550656 1 NA NA 0.00208711144934404 0 NA 0.998956444275328 NA 0.00104355572467202 NA FALSE NA 1 8.346 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER YKT6 HGNC 16959 ENST00000463014 2/2 1 NA AAA A,G 8.236e-06 7:44208188 YKT6 HGNC Symbol protein_coding 13326 ENSG00000106636 ENSE00003620259 missense_variant 4.761188 0.99213 0.991 0.719381 0.99810788727315 0 0.852902232625853 FALSE 4.06458e-06 ENSE00000681287_000 ENSE00000681287 000 16 28145129 28145298 - 33 93 44 NA NA NA NA NA GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 NA NA NA NA NA NA GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG natural 198 247 0.85 0.84102476843237 0.845512384216185 910 771 0.824434668894209 0.818905554764476 0.821670111829343 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0 0 0 0.845512384216185 0.821670111829343 0 0 0 FALSE FALSE NA NA NA NA NA XPO6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPO6 NA NA NA ENSG00000169180 ENSE00003585617 NA NA NA NA NA NA NA 0.999999448411066 TRUE NA ENSE00000681287_001 ENSE00000681287 001 16 28145129 28145298 - 33 93 44 C A 28145143 1482 156 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGTAGTGGAGAGTGTAG 28133807 28133977 28133821 28133822 28133822 downstr_intron 19 1.59375 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGTAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 31 61 0.85 0.85 0.85 384 220 0.930342095434409 0.960358830734711 0.94535046308456 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0.00897523156763047 0.1059074265402 0.141453275970235 0.845512384216185 0.821670111829343 0.00448761578381524 0.123680351255217 0.119192735471402 FALSE FALSE 0.007 1.08 . intron_variant&non_coding_transcript_variant MODIFIER XPO6 HGNC 19733 ENST00000563138 3/4 1 NA TCC C,A 1.652e-05 16:28133822 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 intron_variant 0.179129 0.30851 0.09838 0.256867 0.575454353687954 0.0876827 0.999999448411066 TRUE 1.63139e-05 ENSE00000681287_002 ENSE00000681287 002 16 28145129 28145298 - 33 93 44 C T 28145145 1483 154 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGAGGAGTGGAGAGTGTAG 28133807 28133977 28133823 28133824 28133824 downstr_intron 17 1.53125 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGAGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 11 71 0.85 0.85 0.85 155 94 0.664537544952595 0.818470647144812 0.741504096048703 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0.00897523156763047 -0.159897123941613 -0.000434907619664804 0.845512384216185 0.821670111829343 0.00448761578381524 -0.0801660157806391 0.0846536315644544 FALSE FALSE 0.005 0.3 . intron_variant&non_coding_transcript_variant MODIFIER XPO6 HGNC 19733 ENST00000563138 3/4 rs372743405 1 NA T:0.0002 T:0 CCC C,T 8.26e-06 16:28133824 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 intron_variant 0.22138 0.2683 0.02691 0.256867 0.533923241694252 0.0876827 0.999999448411066 TRUE 4.07488e-06 ENSE00000681287_005 ENSE00000681287 005 16 28145129 28145298 - 33 93 44 C T 28145147 1486 152 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCAGGGGAGTGGAGAGTGTAG 28133807 28133977 28133825 28133826 28133826 downstr_intron 15 1.46875 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCAGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant NA NA NA NA NA 17 275 0.882081020499375 0.948023417118978 0.915052218809177 0.85 0.84102476843237 0.824434668894209 0.818905554764476 NA NA 0.0576463516051662 0.129117862354502 0.845512384216185 0.821670111829343 NA 0.093382106979834 NA FALSE NA 0.072 2.46 NA NA NA XPO6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:28133826 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 intron_variant 0.24282 0.33112 0.28558 0.256867 0.473924045866343 0.0876827 0.999999448411066 TRUE 1.22262e-05 ENSE00000681287_007 ENSE00000681287 007 16 28145129 28145298 - 33 93 44 C A 28145151 1488 148 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTTTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133829 28133830 28133830 downstr_intron 11 1.34375 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTTTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant NA NA NA NA NA 206 74 0.993003395121012 1 0.996501697560506 0.85 0.84102476843237 0.824434668894209 0.818905554764476 NA NA 0.168568726226803 0.181094445235524 0.845512384216185 0.821670111829343 NA 0.174831585731163 NA FALSE NA 0 -2.59 . intron_variant&non_coding_transcript_variant MODIFIER XPO6 HGNC 19733 ENST00000563138 3/4 1 NA ACA C,A 0.0005038 16:28133830 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 intron_variant -0.002221 0.21039 0.02495 0.256867 0.41263611122391 0.098544 0.999999448411066 TRUE 0.000634931 ENSE00000681287_008 ENSE00000681287 008 16 28145129 28145298 - 33 93 44 C T 28145156 1489 143 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATATGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133834 28133835 28133835 downstr_intron 6 1.1875 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATATGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 116 194 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0.00897523156763047 NA NA 0.845512384216185 0.821670111829343 0.00448761578381524 NA NA NA FALSE 0.007 0.697 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW XPO6 HGNC 19733 ENST00000563138 3/4 rs572080885 1 T:0.0006 T:0.0008 T:0.0029 NA T:0 T:0 T:0 ACA C,T 3.304e-05 16:28133835 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 splice_region_variant 0.218707 0.3423 0.08092 0.256867 0.511652982928541 0.164317 0.999999448411066 TRUE 1.62674e-05 ENSE00000681287_011 ENSE00000681287 011 16 28145129 28145298 - 33 93 44 T C 28145165 1492 134 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACGCTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133843 28133844 28133844 exon -4 0.967741935483871 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACGCTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 38 28 0.85 0.85 0.85 595 10 0.854091031128799 0.8 0.827045515564399 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0.00897523156763047 0.0296563622345899 -0.0189055547644763 0.845512384216185 0.821670111829343 0.00448761578381524 0.00537540373505679 0.000887787951241559 FALSE FALSE 0.665 -0.19 NA NA NA XPO6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:28133844 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 synonymous_variant 0.424133 0.96529 0.66762 0.732398 0.564677748493166 0 0.999999448411066 TRUE 4.06759e-06 ENSE00000681287_012 ENSE00000681287 012 16 28145129 28145298 - 33 93 44 A G 28145173 1493 126 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCCTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133851 28133852 28133852 exon -12 0.881720430107527 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCCTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 53 23 0.85 0.85 0.85 453 66 0.8 0.803816847578179 0.801908423789089 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0.00897523156763047 -0.0244346688942086 -0.0150887071862978 0.845512384216185 0.821670111829343 0.00448761578381524 -0.0197616880402532 0.0242493038240685 FALSE FALSE 1 9.107 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO6 HGNC 19733 ENST00000563138 3/5 1 NA AAG A,G 8.258e-06 16:28133852 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 missense_variant 3.508592 0.99144 0.99107 0.732398 0.991209365545497 0 0.999999448411066 TRUE 4.06402e-06 ENSE00000681287_015 ENSE00000681287 015 16 28145129 28145298 - 33 93 44 C T 28145180 1496 119 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACACACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133858 28133859 28133859 exon -19 0.806451612903226 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACACACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 26 17 0.85 0.85 0.85 155 14 0.982357751035278 0.831189044187409 0.906773397611344 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0.00897523156763047 0.15792308214107 0.0122834894229328 0.845512384216185 0.821670111829343 0.00448761578381524 0.0851032857820012 0.080615669998186 FALSE FALSE 0.807 -0.073 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO6 HGNC 19733 ENST00000563138 3/5 rs200447021 1 NA GCG C,T 8.257e-06 16:28133859 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 synonymous_variant 2.34495 0.94769 0.50192 0.732398 0.767195675868229 0 0.999999448411066 TRUE 4.06438e-06 ENSE00000681287_018 ENSE00000681287 018 16 28145129 28145298 - 33 93 44 G A 28145189 1499 110 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTTCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133867 28133868 28133868 exon -28 0.709677419354839 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTTCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant NA NA NA NA NA 14 362 0.95 0.957859461504795 0.953929730752398 0.85 0.84102476843237 0.824434668894209 0.818905554764476 NA NA 0.125565331105791 0.138953906740319 0.845512384216185 0.821670111829343 NA 0.132259618923055 NA FALSE NA 1 2.09 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO6 HGNC 19733 ENST00000563138 3/5 rs574667532 1 NA GGA G,A 1.651e-05 16:28133868 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 synonymous_variant 1.192766 0.9765 0.90982 0.732398 0.716059721148813 0 0.999999448411066 TRUE 2.43799e-05 ENSE00000681287_024 ENSE00000681287 024 16 28145129 28145298 - 33 93 44 C T 28145246 1505 53 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACAGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133924 28133925 28133925 exon 9 0.0967741935483871 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACAGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 10 11 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0.00897523156763047 NA NA 0.845512384216185 0.821670111829343 0.00448761578381524 NA NA NA FALSE 0.008 -1.197 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO6 HGNC 19733 ENST00000563138 3/5 rs563177202 1 T:0.0014 T:0 T:0 NA T:0 T:0 T:0.0072 CCG C,T 0.0007434 16:28133925 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 synonymous_variant 2.396632 0.9403 0.07738 0.706548 0.715399526847051 0 0.999999448411066 TRUE 0.000691484 ENSE00000681287_025 ENSE00000681287 025 16 28145129 28145298 - 33 93 44 T C 28145258 1506 41 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTGCAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133936 28133937 28133937 upstr_intron -4 -0.0681818181818182 GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTGCAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 31 46 0.85 0.85 0.85 1065 592 0.910088262328876 0.80042704208639 0.855257652207633 0.85 0.84102476843237 0.824434668894209 0.818905554764476 0 0.00897523156763047 0.0856535934346675 -0.0184785126780861 0.845512384216185 0.821670111829343 0.00448761578381524 0.0335875403782907 0.0290999245944755 FALSE FALSE 0.212 -0.107 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW XPO6 HGNC 19733 ENST00000563138 2/4 rs373265908 1 NA C:0 C:0.0001 GTA T,C 1.652e-05 16:28133937 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 splice_region_variant 1.306858 0.95837 0.34505 0.099367 0.822558708619689 0.388845 0.999999448411066 TRUE 1.22144e-05 ENSE00000681287_027 ENSE00000681287 027 16 28145129 28145298 - 33 93 44 T G 28145277 1508 22 GAGAGGATTCTGGGAGAGCTGCTTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 28133955 28133956 28133956 upstr_intron -23 -0.5 GAGAGGATTCTGGGAGAGCTGCTTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG mutant 99 17 0.0897077447476697 0 0.0448538723738348 52 73 0 0 0 0.85 0.84102476843237 0.824434668894209 0.818905554764476 -0.76029225525233 -0.84102476843237 -0.824434668894209 -0.818905554764476 0.845512384216185 0.821670111829343 -0.80065851184235 -0.821670111829343 0.0210115999869926 TRUE TRUE 0.964 2.858 . intron_variant&non_coding_transcript_variant MODIFIER XPO6 HGNC 19733 ENST00000563138 2/4 1 NA ATC T,G 8.261e-06 16:28133956 XPO6 HGNC Symbol protein_coding 113941 ENSG00000169180 ENSE00003585617 intron_variant 1.609414 0.97639 0.9617 0.099367 0.717291737815368 0.939527 0.999999448411066 TRUE 4.09363e-06 ENSE00000681287_BRK ENSE00000681287 BRK 16 28145129 28145298 - 33 93 44 A,G; T,T NA NA NA GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACTTCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGCCAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG 28133807 28133977 NA NA NA NA NA NA GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACTTCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGCCAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG GAGAGGATTCTGGGAGAGCTGATTCTCCTGTGCTTCCCCTACAGCAGCAGACGGAGTGGCAGCGGTACTTACGGCAGAGCTTGGAGGTGGTGGCCAAAGTGATGGAGCTCCTGCCCACGCACGCCTTCTCCACACTGGTAATGTGCTGTCCGGGGGAGTGGAGAGTGTAG control 91 45 0 0 0 NA NA NA NA NA 0.85 0.84102476843237 0.824434668894209 0.818905554764476 -0.85 -0.84102476843237 NA NA 0.845512384216185 0.821670111829343 -0.845512384216185 NA NA NA TRUE NA NA NA NA NA XPO6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPO6 NA NA NA ENSG00000169180 ENSE00003585617 NA NA NA NA NA NA NA 0.999999448411066 TRUE NA ENSE00000682885_000 ENSE00000682885 000 16 47621537 47621706 + 42 96 32 NA NA NA NA NA TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 NA NA NA NA NA NA TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG natural 43 102 0.85 0.81761041093029 0.833805205465145 8654 9493 0.74672786792163 0.933164463097005 0.839946165509317 0.85 0.81761041093029 0.74672786792163 0.933164463097005 0 0 0 0 0.833805205465145 0.839946165509317 0 0 0 FALSE FALSE NA NA NA NA NA PHKB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKB NA NA NA ENSG00000102893 ENSE00003501358 NA NA NA NA NA NA NA 3.16119097774812e-10 FALSE NA ENSE00000682885_001 ENSE00000682885 001 16 47621537 47621706 + 42 96 32 G A 47621557 1520 21 TTTTTCTTAATTTAGGAAATATTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587645 47587646 47587646 upstr_intron -22 -0.5 TTTTTCTTAATTTAGGAAATATTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 1570 2278 0.759401245157365 0.802346500326432 0.780873872741899 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.0126733772357353 -0.130817962770573 0.833805205465145 0.839946165509317 NA -0.0590722927674189 NA FALSE NA 0 -0.181 . intron_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 8/10 1 NA TGT G,A 8.237e-06 16:47587646 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 intron_variant 0.16891 0.2936 0.05713 0.322412 0.666287902166751 0.0448725 3.16119097774812e-10 FALSE 4.09396e-06 ENSE00000682885_002 ENSE00000682885 002 16 47621537 47621706 + 42 96 32 T C 47621558 1521 22 TTTTTCTTAATTTAGGAAATGCTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587646 47587647 47587647 upstr_intron -21 -0.476190476190476 TTTTTCTTAATTTAGGAAATGCTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant 15 24 0.85 0.85 0.85 1885 1707 0.700303944163658 0.811987179448919 0.756145561806288 0.85 0.81761041093029 0.74672786792163 0.933164463097005 0 0.03238958906971 -0.0464239237579722 -0.121177283648086 0.833805205465145 0.839946165509317 0.016194794534855 -0.0838006037030292 0.0999953982378842 FALSE FALSE 0 0.21 . intron_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 8/10 1 NA GTT T,C 8.237e-06 16:47587647 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 intron_variant 0.180384 0.28025 0.0477 0.322412 0.589169240591954 0.0448725 3.16119097774812e-10 FALSE 4.09018e-06 ENSE00000682885_004 ENSE00000682885 004 16 47621537 47621706 + 42 96 32 G C 47621573 1523 37 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTCTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587661 47587662 47587662 upstr_intron -6 -0.119047619047619 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTCTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 490 805 0.824932904987005 0.999335384280662 0.912134144633833 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.0782050370653753 0.0661709211836566 0.833805205465145 0.839946165509317 NA 0.072187979124516 NA FALSE NA 0.855 1.336 rs56268318 splice_region_variant&intron_variant&non_coding_transcript_variant LOW PHKB HGNC 8927 ENST00000567402 8/10 rs56268318 1 C:0.1120 C:0.3359 C:0.0548 NA C:0.0139 C:0.0368 C:0.0286 C:0.3103 C:0.0433 TGT C,C 0.057 16:47587662 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 splice_region_variant -0.271022 0.29371 0.30812 0.322412 0.598842279978109 0.0902176 3.16119097774812e-10 FALSE 0.0514803 ENSE00000682885_006 ENSE00000682885 006 16 47621537 47621706 + 42 96 32 G A 47621587 1525 51 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCATGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587675 47587676 47587676 exon 9 0.09375 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCATGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 2679 733 0.0316924978899448 0.00414327851701027 0.0179178882034775 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA -0.715035370031685 -0.929021184579995 0.833805205465145 0.839946165509317 NA -0.82202827730584 NA TRUE NA 0.003 -1.419 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 1 NA CGT G,A 1.647e-05 16:47587676 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 synonymous_variant 0.149723 0.15729 0.041 0.732398 0.468032965646698 0 3.16119097774812e-10 FALSE 3.25277e-05 ENSE00000682885_007 ENSE00000682885 007 16 47621537 47621706 + 42 96 32 G A 47621590 1526 54 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGATCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587678 47587679 47587679 exon 12 0.125 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGATCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 38 82 0.895018558799952 0.949389174732074 0.922203866766013 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.148290690878322 0.0162247116350692 0.833805205465145 0.839946165509317 NA 0.0822577012566956 NA FALSE NA 1 9.727 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 1 NA GGT G,A 8.236e-06 16:47587679 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 stop_gained 12.479197 0.99619 0.99602 0.732398 0.991995923120713 0 3.16119097774812e-10 FALSE 8.13193e-06 ENSE00000682885_008 ENSE00000682885 008 16 47621537 47621706 + 42 96 32 T A 47621608 1527 72 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGAACTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587696 47587697 47587697 exon 30 0.3125 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGAACTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant 10 30 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.81761041093029 0.74672786792163 0.933164463097005 0 0.03238958906971 NA NA 0.833805205465145 0.839946165509317 0.016194794534855 NA NA NA FALSE 1 2.263 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 1 NA ATC T,A 8.236e-06 16:47587697 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 6.151998 0.98559 0.97375 0.732398 0.997470604284331 0 3.16119097774812e-10 FALSE 4.06438e-06 ENSE00000682885_009 ENSE00000682885 009 16 47621537 47621706 + 42 96 32 C T 47621611 1528 75 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTTGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587699 47587700 47587700 exon 33 0.34375 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTTGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 1822 80 0.209396686829503 0.03135280946445 0.120374748146976 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA -0.537331181092127 -0.901811653632555 0.833805205465145 0.839946165509317 NA -0.719571417362341 NA TRUE NA 0.057 -0.641 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 COSM970856&COSM970858&COSM970857 1 NA TCG C,T 8.236e-06 16:47587700 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 synonymous_variant 2.401993 0.9587 0.15271 0.732398 0.731290030192523 0 3.16119097774812e-10 FALSE 2.43881e-05 ENSE00000682885_010 ENSE00000682885 010 16 47621537 47621706 + 42 96 32 G A 47621612 1529 76 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCAATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587700 47587701 47587701 exon 34 0.354166666666667 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCAATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 535 1288 0.0125813007946864 0.00675036566911689 0.00966583323190163 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA -0.734146567126943 -0.926414097427888 0.833805205465145 0.839946165509317 NA -0.830280332277416 NA TRUE NA 1 9.727 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 1 NA CGA G,A 8.236e-06 16:47587701 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 7.258641 0.99619 0.99602 0.732398 0.999329504774526 0 3.16119097774812e-10 FALSE 1.21951e-05 ENSE00000682885_011 ENSE00000682885 011 16 47621537 47621706 + 42 96 32 T C 47621614 1530 78 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGACGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587702 47587703 47587703 exon 36 0.375 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGACGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 29 122 1 0.999687448300169 0.999843724150084 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.25327213207837 0.0665229852031639 0.833805205465145 0.839946165509317 NA 0.159897558640767 NA FALSE NA 1 1.039 rs143411852 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 rs143411852 1 NA C:0.0002 C:0 ATG T,C 8.236e-06 16:47587703 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 synonymous_variant 0.473439 0.98305 0.92312 0.732398 0.570435067589767 0 3.16119097774812e-10 FALSE 8.12876e-06 ENSE00000682885_012 ENSE00000682885 012 16 47621537 47621706 + 42 96 32 A G 47621622 1531 86 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAGTCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587710 47587711 47587711 exon 44 0.458333333333333 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAGTCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant 25 65 0.85 0.85 0.85 891 2645 0.676536583623297 0.840816827333548 0.758676705478422 0.85 0.81761041093029 0.74672786792163 0.933164463097005 0 0.03238958906971 -0.0701912842983328 -0.0923476357634572 0.833805205465145 0.839946165509317 0.016194794534855 -0.081269460030895 0.09746425456575 FALSE FALSE 1 9.246 rs147127433 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 rs147127433 1 NA G:0.0005 G:0 AAT A,G 2.471e-05 16:47587711 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 4.592482 0.99466 0.99523 0.732398 0.992838964502172 0 3.16119097774812e-10 FALSE 1.21931e-05 ENSE00000682885_013 ENSE00000682885 013 16 47621537 47621706 + 42 96 32 C T 47621624 1532 88 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATTGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587712 47587713 47587713 exon 46 0.479166666666667 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATTGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 916 707 0.808311934060094 0.748482574789236 0.778397254424665 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.0615840661384642 -0.18468188830777 0.833805205465145 0.839946165509317 NA -0.0615489110846527 NA FALSE NA 1 2.466 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 1 NA TCG C,T 8.236e-06 16:47587713 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 6.125064 0.98852 0.94786 0.732398 0.999417129634562 0 3.16119097774812e-10 FALSE 8.12856e-06 ENSE00000682885_014 ENSE00000682885 014 16 47621537 47621706 + 42 96 32 G T 47621625 1533 89 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCTCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587713 47587714 47587714 exon 47 0.489583333333333 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCTCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 1053 306 0.824798732648087 0.803064404334718 0.813931568491403 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.0780708647264571 -0.130100058762287 0.833805205465145 0.839946165509317 NA -0.0260145970179148 NA FALSE NA 1 9.769 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 COSM970859&COSM970861&COSM970860 1 NA CGC G,T 8.236e-06 16:47587714 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 7.529315 0.99618 0.99592 0.732398 0.998747735349136 0 3.16119097774812e-10 FALSE 4.06527e-06 ENSE00000682885_015 ENSE00000682885 015 16 47621537 47621706 + 42 96 32 G C 47621643 1534 107 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTCCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587731 47587732 47587732 exon -32 0.677083333333333 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTCCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 4079 1143 0.974040494685808 0.979582384612812 0.97681143964931 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.227312626764178 0.0464179215158067 0.833805205465145 0.839946165509317 NA 0.136865274139992 NA FALSE NA 1 3.548 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 1 NA TGC G,C 8.236e-06 16:47587732 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 0.88198 0.98635 0.95565 0.732398 0.685705037185309 0 3.16119097774812e-10 FALSE 1.21971e-05 ENSE00000682885_016 ENSE00000682885 016 16 47621537 47621706 + 42 96 32 A T 47621653 1535 117 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTTCCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587741 47587742 47587742 exon -22 0.78125 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTTCCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 1635 2202 0.954090145701194 0.94982334091404 0.951956743307617 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.207362277779564 0.0166588778170349 0.833805205465145 0.839946165509317 NA 0.112010577798299 NA FALSE NA 0.903 0.011 rs139519773 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 rs139519773 1 NA T:0 T:0.0001 TAC A,T 8.236e-06 16:47587742 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 5.165656 0.97579 0.75404 0.732398 0.998657821157428 0 3.16119097774812e-10 FALSE 4.06623e-06 ENSE00000682885_017 ENSE00000682885 017 16 47621537 47621706 + 42 96 32 C T 47621654 1536 118 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTATCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587742 47587743 47587743 exon -21 0.791666666666667 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTATCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 335 441 0.965536984757609 0.973557564882292 0.969547274819951 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.218809116835979 0.0403931017852871 0.833805205465145 0.839946165509317 NA 0.129601109310633 NA FALSE NA 1 7.742 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 1 NA ACC C,T 2.471e-05 16:47587743 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 6.888472 0.99595 0.99252 0.732398 0.999362334132142 0 3.16119097774812e-10 FALSE 1.62676e-05 ENSE00000682885_018 ENSE00000682885 018 16 47621537 47621706 + 42 96 32 A G 47621666 1537 130 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAGGATCACATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587754 47587755 47587755 exon -9 0.916666666666667 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAGGATCACATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 1279 2309 0.796796281491902 0.831074685878041 0.813935483684972 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.0500684135702721 -0.102089777218964 0.833805205465145 0.839946165509317 NA -0.0260106818243458 NA FALSE NA 0.9 1.928 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/11 1 NA AAG A,G 1.647e-05 16:47587755 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 3.808338 0.98222 0.91049 0.732398 0.989457815079926 0 3.16119097774812e-10 FALSE 2.03409e-05 ENSE00000682885_019 ENSE00000682885 019 16 47621537 47621706 + 42 96 32 C T 47621672 1538 136 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCATATGTGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 47587760 47587761 47587761 exon -3 0.979166666666667 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCATATGTGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 2920 397 0.775835283890735 0.805003557330456 0.790419420610595 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.0291074159691047 -0.128160905766549 0.833805205465145 0.839946165509317 NA -0.0495267448987224 NA FALSE NA 1 7.742 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PHKB HGNC 8927 ENST00000567402 9/11 1 NA ACA C,T 8.237e-06 16:47587761 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 missense_variant 6.604243 0.99595 0.99252 0.732398 0.998249879930593 0 3.16119097774812e-10 FALSE NA ENSE00000682885_020 ENSE00000682885 020 16 47621537 47621706 + 42 96 32 C T 47621681 1539 145 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGATATTTAATAATGATAAATTTAACATG 47587625 47587795 47587769 47587770 47587770 downstr_intron 7 1.2258064516129 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGATATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 686 2545 0.955936429371203 0.983120154198086 0.969528291784644 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.209208561449573 0.049955691101081 0.833805205465145 0.839946165509317 NA 0.129582126275327 NA FALSE NA 0.025 0.224 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PHKB HGNC 8927 ENST00000567402 9/10 rs372819242 1 NA T:0 T:0.0001 ACA C,T 1.647e-05 16:47587770 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 splice_region_variant 1.762079 0.93869 0.02756 0.088506 0.662002258840355 0.175326 3.16119097774812e-10 FALSE 8.15116e-06 ENSE00000682885_021 ENSE00000682885 021 16 47621537 47621706 + 42 96 32 T C 47621691 1540 155 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAACGATAAATTTAACATG 47587625 47587795 47587779 47587780 47587780 downstr_intron 17 1.54838709677419 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAACGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant 14 28 0.80982916126452 0.85 0.82991458063226 778 1327 0.886467840509574 0.837346015614663 0.861906928062119 0.85 0.81761041093029 0.74672786792163 0.933164463097005 -0.0401708387354798 0.03238958906971 0.139739972587945 -0.0958184474823419 0.833805205465145 0.839946165509317 -0.00389062483288488 0.0219607625528013 0.0258513873856862 FALSE FALSE 0 -0.729 rs75918606 intron_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/10 rs75918606 1 C:0.0086 C:0.031 C:0.0029 NA C:0 C:0 C:0 C:0.0295 C:0 ATG T,C 0.002817 16:47587780 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 intron_variant -0.34724 0.16203 0.00759 0.088506 0.618503663586174 0.0443366 3.16119097774812e-10 FALSE 0.00212495 ENSE00000682885_022 ENSE00000682885 022 16 47621537 47621706 + 42 96 32 G A 47621692 1541 156 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATAATAAATTTAACATG 47587625 47587795 47587780 47587781 47587781 downstr_intron 18 1.58064516129032 TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATAATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG mutant NA NA NA NA NA 1568 1007 0.953490424173643 0.933954129884186 0.943722277028915 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA 0.206762556252013 0.000789666787181398 0.833805205465145 0.839946165509317 NA 0.103776111519597 NA FALSE NA 0.001 -0.665 . intron_variant&non_coding_transcript_variant MODIFIER PHKB HGNC 8927 ENST00000567402 9/10 1 NA TGA G,A 8.237e-06 16:47587781 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00003501358 intron_variant 0.18909 0.10507 0.00208 0.088506 0.43820587860023 0.0443366 3.16119097774812e-10 FALSE NA ENSE00000682885_BRK ENSE00000682885 BRK 16 47621537 47621706 + 42 96 32 A,G; T,T NA NA NA TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCTTGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATCCGAGACATTTAATAATGATAAATTTAACATG 47587625 47587795 NA NA NA NA NA NA TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCTTGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATCCGAGACATTTAATAATGATAAATTTAACATG TTTTTCTTAATTTAGGAAATGTTTTTCTTTTTCTCTGTCCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGCTCGCTGTTACCCAGAGAATCAAGATCACATGTGAGACATTTAATAATGATAAATTTAACATG control NA NA NA NA NA 985 391 0 0 0 0.85 0.81761041093029 0.74672786792163 0.933164463097005 NA NA -0.74672786792163 -0.933164463097005 0.833805205465145 0.839946165509317 NA -0.839946165509317 NA TRUE NA NA NA NA NA NA PHKB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKB NA NA NA ENSG00000102893 ENSE00003501358 NA NA NA NA NA NA NA 3.16119097774812e-10 FALSE NA ENSE00000683971_000 ENSE00000683971 000 16 53513012 53513181 + 54 72 44 NA NA NA NA NA CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 NA NA NA NA NA NA CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC natural 93 110 0.989562405471606 0.979586715120154 0.98457456029588 5608 5755 0.954603237691139 0.950296347208091 0.952449792449615 0.989562405471606 0.979586715120154 0.954603237691139 0.950296347208091 0 0 0 0 0.98457456029588 0.952449792449615 0 0 0 FALSE FALSE NA NA NA NA NA RBL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBL2 NA NA NA ENSG00000103479 ENSE00003482757 NA NA NA NA NA NA NA 0.957797035589511 TRUE NA ENSE00000684677_000 ENSE00000684677 000 16 56852523 56852692 + 53 75 42 NA NA NA NA NA TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 NA NA NA NA NA NA TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT natural 93 72 0.994719033144764 0.994017437392228 0.994368235268496 3078 1669 0.939819551220091 0.965275612119593 0.952547581669842 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 0 0 0 0 0.994368235268496 0.952547581669842 0 0 0 FALSE FALSE NA NA NA NA NA NUP93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP93 NA NA NA ENSG00000102900 ENSE00003579067 NA NA NA NA NA NA NA 0.00486804388235231 FALSE NA ENSE00000684677_001 ENSE00000684677 001 16 56852523 56852692 + 53 75 42 A G 56852546 1790 24 TCACATGACTGAATACTGTCCCTGACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818633 56818634 56818634 upstr_intron -30 -0.547169811320755 TCACATGACTGAATACTGTCCCTGACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 148 160 0.999721604676646 0.99855997663093 0.999140790653788 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0599020534565555 0.033284364511337 0.994368235268496 0.952547581669842 NA 0.0465932089839463 NA FALSE NA 0.865 2.035 . intron_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 2/3 1 NA TAA A,G 8.236e-06 16:56818634 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 intron_variant 1.104264 0.39333 0.81448 0.156188 0.802122232188332 0.118391 0.00486804388235231 FALSE 1.22678e-05 ENSE00000684677_002 ENSE00000684677 002 16 56852523 56852692 + 53 75 42 G T 56852556 1791 34 TCACATGACTGAATACTGTCCCTAACTGATTCTTAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818643 56818644 56818644 upstr_intron -20 -0.358490566037736 TCACATGACTGAATACTGTCCCTAACTGATTCTTAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 708 210 0.875970265925795 0.999818571493461 0.937894418709628 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA -0.0638492852942955 0.0345429593738675 0.994368235268496 0.952547581669842 NA -0.014653162960214 NA FALSE NA 0 -0.4 . intron_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 2/3 1 NA TGA G,T 8.236e-06 16:56818644 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 intron_variant 0.139716 0.2048 0.03333 0.156188 0.593937103704216 0.118391 0.00486804388235231 FALSE 4.0785e-06 ENSE00000684677_004 ENSE00000684677 004 16 56852523 56852692 + 53 75 42 A G 56852564 1793 42 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTGTTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818651 56818652 56818652 upstr_intron -12 -0.207547169811321 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTGTTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 17 411 1 1 1 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0474524183301579 NA FALSE NA 0 -3.399 . intron_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 2/3 1 NA TAT A,G 3.295e-05 16:56818652 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 intron_variant 0.22773 0.19866 0.02954 0.295142 0.491241274598334 0.250074 0.00486804388235231 FALSE 2.03537e-05 ENSE00000684677_005 ENSE00000684677 005 16 56852523 56852692 + 53 75 42 T C 56852569 1794 47 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTACCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818656 56818657 56818657 upstr_intron -7 -0.113207547169811 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTACCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 120 102 0.99872052786597 0.98398638026796 0.991353454066965 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0589009766458793 0.0187107681483667 0.994368235268496 0.952547581669842 NA 0.038805872397123 NA FALSE NA 0 -0.012 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NUP93 HGNC 28958 ENST00000566727 2/3 1 NA ATC T,C 8.236e-06 16:56818657 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 splice_region_variant 0.359014 0.23136 0.06071 0.295142 0.604381309520887 0.251861 0.00486804388235231 FALSE 8.13292e-06 ENSE00000684677_006 ENSE00000684677 006 16 56852523 56852692 + 53 75 42 A G 56852572 1795 50 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCGCAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818659 56818660 56818660 upstr_intron -4 -0.0566037735849057 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCGCAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 1047 493 0.99952737106498 0.995994243956681 0.99776080751083 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0597078198448889 0.0307186318370877 0.994368235268496 0.952547581669842 NA 0.0452132258409883 NA FALSE NA 0.001 0.258 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NUP93 HGNC 28958 ENST00000566727 2/3 1 NA CAC A,G 8.236e-06 16:56818660 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 splice_region_variant 0.775199 0.2388 0.04546 0.322412 0.686897806345496 0.251861 0.00486804388235231 FALSE 4.06597e-06 ENSE00000684677_008 ENSE00000684677 008 16 56852523 56852692 + 53 75 42 C G 56852576 1797 54 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGGCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818663 56818664 56818664 exon 1 0.0133333333333333 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGGCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 1079 172 0.992024321071005 1 0.996012160535502 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.052204769850914 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0434645788656603 NA FALSE NA 1 4.496 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW NUP93 HGNC 28958 ENST00000566727 3/4 1 NA GCC C,G 8.236e-06 16:56818664 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 1.15974 0.9889 0.97638 0.732398 0.980037274437003 0 0.00486804388235231 FALSE 8.13068e-06 ENSE00000684677_009 ENSE00000684677 009 16 56852523 56852692 + 53 75 42 A G 56852579 1798 57 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAGGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818666 56818667 56818667 exon 4 0.0533333333333333 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAGGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 65 693 1 0.993304848039731 0.996652424019866 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.0280292359201376 0.994368235268496 0.952547581669842 NA 0.0441048423500234 NA FALSE NA 1 7.521 rs142191056 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 rs142191056 1 NA G:0 G:0.0001 AAG A,G 5.765e-05 16:56818667 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 2.265126 0.99145 0.98913 0.732398 0.975309056434744 0 0.00486804388235231 FALSE 5.68911e-05 ENSE00000684677_010 ENSE00000684677 010 16 56852523 56852692 + 53 75 42 G A 56852580 1799 58 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAACTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818667 56818668 56818668 exon 5 0.0666666666666667 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAACTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 251 80 1 1 1 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0474524183301579 NA FALSE NA 1 7.947 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 1 NA AGC G,A 1.647e-05 16:56818668 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 4.230313 0.99343 0.98904 0.732398 0.996374559972793 0 0.00486804388235231 FALSE 8.12704e-06 ENSE00000684677_011 ENSE00000684677 011 16 56852523 56852692 + 53 75 42 T C 56852582 1800 60 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCCACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818669 56818670 56818670 exon 7 0.0933333333333333 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCCACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 33 16 1 0.954026739247554 0.977013369623777 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 -0.0112488728720395 0.994368235268496 0.952547581669842 NA 0.0244657879539349 NA FALSE NA 1 6.468 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 1 NA CTA T,C 8.236e-06 16:56818670 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 2.324647 0.99107 0.98177 0.732398 0.989811799999936 0 0.00486804388235231 FALSE 4.06322e-06 ENSE00000684677_012 ENSE00000684677 012 16 56852523 56852692 + 53 75 42 C T 56852584 1801 62 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTATATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818671 56818672 56818672 exon 9 0.12 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTATATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 166 124 0.96703535195117 1 0.983517675975585 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0272158007310793 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0309700943057429 NA FALSE NA 0.997 0.564 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 1 NA ACA C,T 1.647e-05 16:56818672 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 synonymous_variant 1.033718 0.9744 0.7279 0.732398 0.618237234728596 0 0.00486804388235231 FALSE 8.12618e-06 ENSE00000684677_014 ENSE00000684677 014 16 56852523 56852692 + 53 75 42 G A 56852610 1803 88 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCAAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818697 56818698 56818698 exon 35 0.466666666666667 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCAAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 458 856 1 0.999060863863969 0.999530431931985 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.033785251744376 0.994368235268496 0.952547581669842 NA 0.0469828502621426 NA FALSE NA 1 7.947 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 1 NA CGA G,A 8.236e-06 16:56818698 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 7.490378 0.99349 0.98914 0.732398 0.999533783808445 0 0.00486804388235231 FALSE NA ENSE00000684677_015 ENSE00000684677 015 16 56852523 56852692 + 53 75 42 G C 56852613 1804 91 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAACCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818700 56818701 56818701 exon -38 0.506666666666667 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAACCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant 13 12 1 0.991264890151503 0.995632445075751 30 50 1 1 1 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 0.00528096685523571 -0.00275254724072516 0.0601804487799092 0.0347243878804065 0.994368235268496 0.952547581669842 0.00126420980725528 0.0474524183301579 0.0461882085229026 FALSE FALSE 1 7.947 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 1 NA AGC G,C 8.236e-06 16:56818701 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 5.979187 0.9938 0.99125 0.732398 0.996925680725241 0 0.00486804388235231 FALSE 4.06174e-06 ENSE00000684677_016 ENSE00000684677 016 16 56852523 56852692 + 53 75 42 A G 56852627 1805 105 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACGTCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818714 56818715 56818715 exon -24 0.693333333333333 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACGTCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 1074 922 0.964485860678102 0.995340109719208 0.979912985198655 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0246663094580115 0.0300644975996144 0.994368235268496 0.952547581669842 NA 0.0273654035288129 NA FALSE NA 1 2.992 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 1 NA CAT A,G 1.647e-05 16:56818715 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant -0.829729 0.97193 0.5735 0.732398 0.386277089327764 0 0.00486804388235231 FALSE 2.03097e-05 ENSE00000684677_017 ENSE00000684677 017 16 56852523 56852692 + 53 75 42 G A 56852630 1806 108 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCAAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818717 56818718 56818718 exon -21 0.733333333333333 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCAAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 1378 534 0.95732150420271 0.992851376265541 0.975086440234125 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0175019529826196 0.0275757641459473 0.994368235268496 0.952547581669842 NA 0.0225388585642834 NA FALSE NA 1 7.947 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 COSM1176785 1 NA CGA G,A 8.236e-06 16:56818718 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 7.126413 0.99349 0.98914 0.732398 0.999376759363244 0 0.00486804388235231 FALSE 4.06233e-06 ENSE00000684677_019 ENSE00000684677 019 16 56852523 56852692 + 53 75 42 A G 56852640 1808 118 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTGTGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818727 56818728 56818728 exon -11 0.866666666666667 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTGTGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 138 70 0.987232892052177 1 0.993616446026089 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0474133408320866 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0410688643562466 NA FALSE NA 1 7.521 rs184256098 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 rs184256098 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 G:0 G:0.0001 TAT A,G 8.236e-06 16:56818728 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 6.11562 0.99152 0.98923 0.732398 0.99854064799866 0 0.00486804388235231 FALSE 1.62497e-05 ENSE00000684677_020 ENSE00000684677 020 16 56852523 56852692 + 53 75 42 G A 56852644 1809 122 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCACGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818731 56818732 56818732 exon -7 0.92 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCACGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 441 564 1 0.998087988948519 0.99904399447426 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.0328123768289257 0.994368235268496 0.952547581669842 NA 0.0464964128044175 NA FALSE NA 1 0.84 rs35687281 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 rs35687281 1 A:0.0172 A:0.062 A:0.0043 NA A:0 A:0.001 A:0 A:0.0491 A:0.0001 CGC G,A 0.004522 16:56818732 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 synonymous_variant 1.534507 0.97834 0.688 0.732398 0.688287676391076 0 0.00486804388235231 FALSE 0.00343435 ENSE00000684677_021 ENSE00000684677 021 16 56852523 56852692 + 53 75 42 C T 56852645 1810 123 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGTGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818732 56818733 56818733 exon -6 0.933333333333333 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGTGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 122 19 1 1 1 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0474524183301579 NA FALSE NA 1 2.068 rs189324020 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 rs189324020 1 NA T:0 T:0.0001 GCG C,T 4.942e-05 16:56818733 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 8.084004 0.99298 0.98223 0.732398 0.999144447198678 0 0.00486804388235231 FALSE 4.8769e-05 ENSE00000684677_022 ENSE00000684677 022 16 56852523 56852692 + 53 75 42 G A 56852646 1811 124 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCAGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818733 56818734 56818734 exon -5 0.946666666666667 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCAGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 139 484 0.991060275169132 0.995919907083641 0.993490091126386 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0512407239490408 0.030644294964048 0.994368235268496 0.952547581669842 NA 0.0409425094565444 NA FALSE NA 1 6.134 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/4 COSM1493659 1 NA CGG G,A 8.236e-06 16:56818734 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 missense_variant 4.023346 0.98844 0.97707 0.732398 0.998546551770105 0 0.00486804388235231 FALSE NA ENSE00000684677_023 ENSE00000684677 023 16 56852523 56852692 + 53 75 42 G A 56852653 1812 131 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTAAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818740 56818741 56818741 downstr_intron 3 1.07317073170732 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTAAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 138 409 1 1 1 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0474524183301579 NA FALSE NA 1 0.412 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NUP93 HGNC 28958 ENST00000566727 3/3 rs372150024 1 NA A:0 A:0.0005 TGA G,A 2.471e-05 16:56818741 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 splice_region_variant 0.902851 0.95494 0.83603 0.106106 0.520726534552218 0.487613 0.00486804388235231 FALSE 4.06507e-05 ENSE00000684677_024 ENSE00000684677 024 16 56852523 56852692 + 53 75 42 G C 56852667 1813 145 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAACGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818754 56818755 56818755 downstr_intron 17 1.41463414634146 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAACGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 35 75 1 1 1 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0474524183301579 NA FALSE NA 0.013 0.619 . intron_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/3 1 NA AGG G,C 8.236e-06 16:56818755 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 intron_variant -0.265908 0.22439 0.17067 0.106106 0.363002143839419 0.0448725 0.00486804388235231 FALSE 4.07126e-06 ENSE00000684677_025 ENSE00000684677 025 16 56852523 56852692 + 53 75 42 G T 56852671 1814 149 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGTATTAAGCCAGGAAAATCCTTT 56818610 56818780 56818758 56818759 56818759 downstr_intron 21 1.51219512195122 TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGTATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT mutant NA NA NA NA NA 1141 96 1 1 1 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 NA NA 0.0601804487799092 0.0347243878804065 0.994368235268496 0.952547581669842 NA 0.0474524183301579 NA FALSE NA 0 1.316 . intron_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/3 1 NA GGA G,T 8.236e-06 16:56818759 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00003579067 intron_variant 0.009345 0.18971 0.15081 0.106106 0.684776377001646 0.0448725 0.00486804388235231 FALSE 4.08637e-06 ENSE00000684677_BRK ENSE00000684677 BRK 16 56852523 56852692 + 53 75 42 A,G; T,T NA NA NA TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACTTCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAACCGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT 56818610 56818780 NA NA NA NA NA NA TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACTTCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAACCGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT TCACATGACTGAATACTGTCCCTAACTGATTCTGAATGTGTATTTATCCACAGCCAAGCTACATCAGTGATGTGGGACCCCCTGGTCGAAGCTCTCTGGATAACATCGAGATGGCCTATGCGCGGCAAGTGAGTGTGATTTTAAGGGGGATTAAGCCAGGAAAATCCTTT control 23 188 0 0 0 1880 134 0.00450696519119057 0.161746074701585 0.0831265199463878 0.994719033144764 0.994017437392228 0.939819551220091 0.965275612119593 -0.994719033144764 -0.994017437392228 -0.9353125860289 -0.803529537418008 0.994368235268496 0.952547581669842 -0.994368235268496 -0.869421061723454 0.124947173545042 TRUE TRUE NA NA NA NA NA NUP93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP93 NA NA NA ENSG00000102900 ENSE00003579067 NA NA NA NA NA NA NA 0.00486804388235231 FALSE NA ENSE00000684678_000 ENSE00000684678 000 16 56855371 56855540 + 45 90 35 NA NA NA NA NA AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 NA NA NA NA NA NA AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG natural 30 24 0.998396249949082 0.995119826519078 0.99675803823408 3647 4670 0.911186480336449 0.988164042841154 0.949675261588802 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 0 0 0 0 0.99675803823408 0.949675261588802 0 0 0 FALSE FALSE NA NA NA NA NA NUP93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP93 NA NA NA ENSG00000102900 ENSE00000684678 NA NA NA NA NA NA NA 0.00486804388235231 FALSE NA ENSE00000684678_001 ENSE00000684678 001 16 56855371 56855540 + 45 90 35 A G 56855382 1815 12 AGAAAATAGATGCTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821469 56821470 56821470 upstr_intron -34 -0.733333333333333 AGAAAATAGATGCTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant 14 12 0.938107335359581 0.85 0.894053667679791 887 387 0.997416898501273 0.997795579692463 0.997606239096868 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 -0.0602889145895013 -0.145119826519078 0.0862304181648238 0.00963153685130891 0.99675803823408 0.949675261588802 -0.10270437055429 0.0479309775080664 0.150635348062356 FALSE FALSE 0.023 1.122 . intron_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/3 1 NA TAC A,G 8.237e-06 16:56821470 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 intron_variant 0.211099 0.2751 0.11838 0.156188 0.437528602366324 0.152352 0.00486804388235231 FALSE 1.64214e-05 ENSE00000684678_002 ENSE00000684678 002 16 56855371 56855540 + 45 90 35 A G 56855406 1816 36 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTGTCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821493 56821494 56821494 upstr_intron -10 -0.2 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTGTCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 3018 730 0.999062735451256 0.996601751707566 0.997832243579411 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0878762551148067 0.00843770886641226 0.99675803823408 0.949675261588802 NA 0.0481569819906095 NA FALSE NA 0 -0.383 . intron_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 3/3 1 NA TAT A,G 8.236e-06 16:56821494 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 intron_variant 1.549552 0.29141 0.12997 0.295142 0.789755903775897 0.289887 0.00486804388235231 FALSE NA ENSE00000684678_003 ENSE00000684678 003 16 56855371 56855540 + 45 90 35 C A 56855408 1817 38 CCCCGGTTTCTACTTGAGTTAGCTCTAGGTGCTACCTTATCATCGAGCTCTGCGACGGAAGCACAAAGGTCCACCAGGTTAGGCTGCAGGTGTCCATTTACAATTTTCTCATTATAGATATAAATCTGAAATTATAAAAAGCAAAGTAAATGGCAAAGTATCTATTTTCT 56821458 56821628 56821495 56821496 56821496 upstr_intron -8 -0.155555555555556 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATAATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 523 549 0.999051908208 0.988435646178754 0.993743777193377 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.087865427871551 0.00027160333760079 0.99675803823408 0.949675261588802 NA 0.0440685156045759 NA FALSE NA 0.002 -0.426 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NUP93 HGNC 28958 ENST00000566727 3/3 1 NA TCA C,A 8.236e-06 16:56821496 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 splice_region_variant 1.621854 0.30222 0.16316 0.295142 0.613855455034924 0.289887 0.00486804388235231 FALSE 4.07568e-06 ENSE00000684678_004 ENSE00000684678 004 16 56855371 56855540 + 45 90 35 A G 56855426 1818 56 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTGTAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821513 56821514 56821514 exon 11 0.122222222222222 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTGTAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant 184 304 0.85 0.85 0.85 444 1496 0.945671791745337 0.957401131253585 0.951536461499461 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 -0.148396249949082 -0.145119826519078 0.0344853114088878 -0.0307629115875685 0.99675803823408 0.949675261588802 -0.14675803823408 0.00186119991065964 0.14861923814474 FALSE FALSE 1 6.169 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 4/4 rs201924382 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 TAT A,G 3.295e-05 16:56821514 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 2.914842 0.98852 0.96537 0.732398 0.992893362654815 0 0.00486804388235231 FALSE 1.62551e-05 ENSE00000684678_005 ENSE00000684678 005 16 56855371 56855540 + 45 90 35 A G 56855436 1819 66 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAGATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821523 56821524 56821524 exon 21 0.233333333333333 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAGATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 1510 590 0.996945628844316 1 0.998472814422158 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0857591485078668 0.0118359571588463 0.99675803823408 0.949675261588802 NA 0.0487975528333566 NA FALSE NA 1 2.717 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 4/4 1 NA AAA A,G 0.0002389 16:56821524 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 synonymous_variant 0.075486 0.96676 0.24687 0.732398 0.637174812394714 0 0.00486804388235231 FALSE 0.000353475 ENSE00000684678_006 ENSE00000684678 006 16 56855371 56855540 + 45 90 35 A G 56855444 1820 74 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAGTGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821531 56821532 56821532 exon 29 0.322222222222222 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAGTGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 711 1046 1 0.993553982529085 0.996776991264543 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0888135196635506 0.00538993968793133 0.99675803823408 0.949675261588802 NA 0.0471017296757409 NA FALSE NA 0.983 2.629 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 4/4 1 NA AAT A,G 8.236e-06 16:56821532 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant -1.372966 0.4021 0.66475 0.732398 0.518568758846597 0 0.00486804388235231 FALSE 4.06124e-06 ENSE00000684678_007 ENSE00000684678 007 16 56855371 56855540 + 45 90 35 G A 56855446 1821 76 CCCCGGTTTCTACTTGAGTTAGCTCTAGGTGCTACCTTATCATCGAGCTCTGCGACGGAAGCACAAAGGTCCACCAGGTTAGGCTGCAGGTGTCTATTTACAATTTTCTCATTATAGATATAAATCTGAAATGATAAAAAGCAAAGTAAATGGCAAAGTATCTATTTTCT 56821458 56821628 56821533 56821534 56821534 exon 31 0.344444444444444 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATAGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 502 589 0.944824728820561 0.871221575506531 0.908023152163546 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0336382484841116 -0.116942467334623 0.99675803823408 0.949675261588802 NA -0.0416521094252557 NA FALSE NA 1 7.05 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 4/4 rs374284384 1 NA A:0.0002 A:0 TGG G,A 8.236e-06 16:56821534 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 3.951894 0.99202 0.9857 0.732398 0.993965584518963 0 0.00486804388235231 FALSE 4.06154e-06 ENSE00000684678_008 ENSE00000684678 008 16 56855371 56855540 + 45 90 35 C G 56855452 1822 82 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACGTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821539 56821540 56821540 exon 37 0.411111111111111 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACGTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 985 765 0.959059207928835 0.992703237095189 0.975881222512012 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0478727275923858 0.00453919425403515 0.99675803823408 0.949675261588802 NA 0.0262059609232105 NA FALSE NA 0.993 1.466 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 4/4 rs372688438 1 NA G:0 G:0.0001 CCT C,G 1.647e-05 16:56821540 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 1.97333 0.98538 0.91083 0.732398 0.986584642444789 0 0.00486804388235231 FALSE 4.06124e-06 ENSE00000684678_009 ENSE00000684678 009 16 56855371 56855540 + 45 90 35 G A 56855466 1823 96 CCCCGGTTTCTACTTGAGTTAGCTCTAGGTGCTACCTTATCATCGAGCTCTGCGACGGAAGCACAAAGGTCCACTAGGTTAGGCTGCAGGTGTCCATTTACAATTTTCTCATTATAGATATAAATCTGAAATGATAAAAAGCAAAGTAAATGGCAAAGTATCTATTTTCT 56821458 56821628 56821553 56821554 56821554 exon -40 0.566666666666667 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTAGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 1265 418 0.997401239628362 0.990025741428698 0.99371349052853 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0862147592919122 0.00186169858754404 0.99675803823408 0.949675261588802 NA 0.0440382289397281 NA FALSE NA 0.686 -0.349 . downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 1 NA TGG G,A 8.236e-06 16:56821554 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 synonymous_variant 0.937265 0.90767 0.55047 0.732398 0.78399317698189 0 0.00486804388235231 FALSE 4.06144e-06 ENSE00000684678_010 ENSE00000684678 010 16 56855371 56855540 + 45 90 35 C G 56855472 1824 102 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGAGCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821559 56821560 56821560 exon -34 0.633333333333333 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGAGCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 1878 82 0.895069788391075 0.93338738229507 0.914228585343073 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA -0.0161166919453745 -0.0547766605460833 0.99675803823408 0.949675261588802 NA -0.0354466762457289 NA FALSE NA 1 1.074 rs140226964 downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 rs140226964 1 NA G:0 G:0.0006 ACC C,G 0.0002553 16:56821560 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 1.944233 0.98044 0.90221 0.732398 0.982056629015777 0 0.00486804388235231 FALSE 0.000345223 ENSE00000684678_011 ENSE00000684678 011 16 56855371 56855540 + 45 90 35 C A 56855473 1825 103 CCCCGGTTTCTACTTGAGTTAGCTCTAGGTGCTACCTTATCATCGAGCTCTGCGACGGAAGCACAAATGTCCACCAGGTTAGGCTGCAGGTGTCCATTTACAATTTTCTCATTATAGATATAAATCTGAAATGATAAAAAGCAAAGTAAATGGCAAAGTATCTATTTTCT 56821458 56821628 56821560 56821561 56821561 exon -33 0.644444444444444 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACATTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 516 1816 0.880918418305564 0.885290542442263 0.883104480373913 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA -0.0302680620308857 -0.102873500398891 0.99675803823408 0.949675261588802 NA -0.0665707812148884 NA FALSE NA 1 1.489 rs146924670 downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 rs146924670 1 NA A:0 A:0.0001 CCT C,A 8.236e-06 16:56821561 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 2.892187 0.98266 0.91097 0.732398 0.991403179135731 0 0.00486804388235231 FALSE 4.06154e-06 ENSE00000684678_012 ENSE00000684678 012 16 56855371 56855540 + 45 90 35 T G 56855476 1826 106 CCCCGGTTTCTACTTGAGTTAGCTCTAGGTGCTACCTTATCATCGAGCTCTGCGACGGAAGCACCAAGGTCCACCAGGTTAGGCTGCAGGTGTCCATTTACAATTTTCTCATTATAGATATAAATCTGAAATGATAAAAAGCAAAGTAAATGGCAAAGTATCTATTTTCT 56821458 56821628 56821563 56821564 56821564 exon -30 0.677777777777778 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTGGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 1135 5005 0.993730079004992 0.998646367246634 0.996188223125813 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0825435986685422 0.0104823244054805 0.99675803823408 0.949675261588802 NA 0.0465129615370113 NA FALSE NA 1 7.227 . downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 1 NA TTG T,G 8.236e-06 16:56821564 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 2.12975 0.99388 0.98861 0.732398 0.980368149326353 0 0.00486804388235231 FALSE 4.06141e-06 ENSE00000684678_013 ENSE00000684678 013 16 56855371 56855540 + 45 90 35 G T 56855477 1827 107 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTTTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821564 56821565 56821565 exon -29 0.688888888888889 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTTTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 1108 810 0.99925478149429 0.986714666545584 0.992984724019937 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0880683011578408 -0.00144937629556918 0.99675803823408 0.949675261588802 NA 0.0433094624311358 NA FALSE NA 1 6.904 . downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 1 NA TGT G,T 8.236e-06 16:56821565 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 1.726014 0.99177 0.97857 0.732398 0.90318256605231 0 0.00486804388235231 FALSE 8.12249e-06 ENSE00000684678_014 ENSE00000684678 014 16 56855371 56855540 + 45 90 35 G C 56855479 1828 109 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTCCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821566 56821567 56821567 exon -27 0.711111111111111 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTCCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 1092 3532 0.99985964256701 0.998837248796465 0.999348445681738 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0886731622305608 0.0106732059553114 0.99675803823408 0.949675261588802 NA 0.0496731840929361 NA FALSE NA 1 4.063 . downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 1 NA TGC G,C 8.236e-06 16:56821567 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 0.844406 0.98485 0.96576 0.732398 0.94170827353035 0 0.00486804388235231 FALSE 4.06138e-06 ENSE00000684678_015 ENSE00000684678 015 16 56855371 56855540 + 45 90 35 C T 56855484 1829 114 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCTGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821571 56821572 56821572 exon -22 0.766666666666667 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCTGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 529 96 1 1 1 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0888135196635506 0.0118359571588463 0.99675803823408 0.949675261588802 NA 0.0503247384111984 NA FALSE NA 0 -4.085 rs137927975 downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 rs137927975 1 NA T:0.0002 T:0 CCG C,T 5.765e-05 16:56821572 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 splice_region_variant 2.09783 0.1573 0.02053 0.732398 0.782447707708392 0 0.00486804388235231 FALSE 6.09241e-05 ENSE00000684678_017 ENSE00000684678 017 16 56855371 56855540 + 45 90 35 G A 56855488 1831 118 CCCCGGTTTCTACTTGAGTTAGCTCTAGGTGCTACCTTATCATCGAGCTCTGTGACGGAAGCACAAAGGTCCACCAGGTTAGGCTGCAGGTGTCCATTTACAATTTTCTCATTATAGATATAAATCTGAAATGATAAAAAGCAAAGTAAATGGCAAAGTATCTATTTTCT 56821458 56821628 56821575 56821576 56821576 exon -18 0.811111111111111 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCACAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 262 226 1 0.959223903883328 0.979611951941664 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0888135196635506 -0.0289401389578257 0.99675803823408 0.949675261588802 NA 0.0299366903528624 NA FALSE NA 0.993 3.311 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:56821576 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 5.806476 0.97243 0.93674 0.732398 0.998946197163007 0 0.00486804388235231 FALSE 8.12394e-06 ENSE00000684678_018 ENSE00000684678 018 16 56855371 56855540 + 45 90 35 G T 56855488 1832 118 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCTCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821575 56821576 56821576 exon -18 0.811111111111111 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCTCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 331 147 1 0.998922605341996 0.999461302670998 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0888135196635506 0.0107585625008427 0.99675803823408 0.949675261588802 NA 0.0497860410821966 NA FALSE NA 0.993 3.311 NA NA NA NUP93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP93 NA NA NA ENSG00000102900 ENSE00000684678 missense_variant 2.690869 0.97348 0.95125 0.732398 0.994989120449805 0 0.00486804388235231 FALSE 1.21859e-05 ENSE00000684678_020 ENSE00000684678 020 16 56855371 56855540 + 45 90 35 A T 56855501 1834 131 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGTTAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821588 56821589 56821589 exon -5 0.955555555555556 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGTTAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 346 821 0.988737660749559 0.999714420142363 0.994226040445961 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.07755118041311 0.0115503773012089 0.99675803823408 0.949675261588802 NA 0.0445507788571595 NA FALSE NA 1 8.394 . downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 1 NA GAT A,T 8.236e-06 16:56821589 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 missense_variant 4.868826 0.9939 0.99187 0.732398 0.989432996845438 0 0.00486804388235231 FALSE 4.0624e-06 ENSE00000684678_021 ENSE00000684678 021 16 56855371 56855540 + 45 90 35 C T 56855510 1835 140 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGTACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 56821597 56821598 56821598 downstr_intron 5 1.14705882352941 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGTACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 1419 754 0.927140619408025 0.997174757495107 0.962157688451566 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0159541390715755 0.00901071465395353 0.99675803823408 0.949675261588802 NA 0.0124824268627645 NA FALSE NA 0 -1.881 . downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 1 NA GCA C,T 4.118e-05 16:56821598 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 splice_region_variant -0.388561 0.07305 0.01081 0.088506 0.499175589528244 0.0825715 0.00486804388235231 FALSE 2.84627e-05 ENSE00000684678_022 ENSE00000684678 022 16 56855371 56855540 + 45 90 35 C A 56855523 1836 153 CCCCGGTTTCTACTTGATTTAGCTCTAGGTGCTACCTTATCATCGAGCTCTGCGACGGAAGCACAAAGGTCCACCAGGTTAGGCTGCAGGTGTCCATTTACAATTTTCTCATTATAGATATAAATCTGAAATGATAAAAAGCAAAGTAAATGGCAAAGTATCTATTTTCT 56821458 56821628 56821610 56821611 56821611 downstr_intron 18 1.52941176470588 AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAAATCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG mutant NA NA NA NA NA 454 350 0.995506855965336 0.998463048960043 0.996984952462689 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA 0.0843203756288865 0.0102990061188895 0.99675803823408 0.949675261588802 NA 0.047309690873888 NA FALSE NA 0 0.541 . downstream_gene_variant MODIFIER NUP93 HGNC 28958 ENST00000566727 1 NA ACT C,A 8.236e-06 16:56821611 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684678 intron_variant 0.110924 0.3072 0.32484 0.088506 0.379354465040652 0.0609381 0.00486804388235231 FALSE NA ENSE00000684678_BRK ENSE00000684678 BRK 16 56855371 56855540 + 45 90 35 A,G; T,T NA NA NA AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCTTATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGCCAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG 56821458 56821628 NA NA NA NA NA NA AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCTTATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGCCAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG AGAAAATAGATACTTTGCCATTTACTTTGCTTTTTATCATTTCAGATTTATATCTATAATGAGAAAATTGTAAATGGACACCTGCAGCCTAACCTGGTGGACCTTTGTGCTTCCGTCGCAGAGCTCGATGATAAGGTAGCACCTAGAGCTAACTCAAGTAGAAACCGGGG control NA NA NA NA NA 251 961 0 0.0527613865828591 0.0263806932914296 0.998396249949082 0.995119826519078 0.911186480336449 0.988164042841154 NA NA -0.911186480336449 -0.935402656258295 0.99675803823408 0.949675261588802 NA -0.923294568297372 NA TRUE NA NA NA NA NA NA NUP93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP93 NA NA NA ENSG00000102900 ENSE00000684678 NA NA NA NA NA NA NA 0.00486804388235231 FALSE NA ENSE00000684695_000 ENSE00000684695 000 16 56873385 56873554 + 48 84 38 NA NA NA NA NA ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 NA NA NA NA NA NA ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC natural 44 73 0.837441240913644 0.796279836304712 0.816860538609178 2090 3900 0.803147926300772 0.813005827511174 0.808076876905973 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 0 0 0 0 0.816860538609178 0.808076876905973 0 0 0 FALSE FALSE NA NA NA NA NA NUP93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP93 NA NA NA ENSG00000102900 ENSE00000684695 NA NA NA NA NA NA NA 0.00486804388235231 FALSE NA ENSE00000684695_001 ENSE00000684695 001 16 56873385 56873554 + 48 84 38 G A 56873397 1837 13 ATGACTGTGATGATTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839484 56839485 56839485 upstr_intron -36 -0.729166666666667 ATGACTGTGATGATTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant NA NA NA NA NA 41 381 0.749967556732425 0.801325832475601 0.775646694604013 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 NA NA -0.0531803695683472 -0.0116799950355734 0.816860538609178 0.808076876905973 NA -0.0324301823019603 NA FALSE NA 0 -1.191 . intron_variant MODIFIER NUP93 HGNC 28958 ENST00000563486 2/2 1 NA GGT G,A 8.237e-06 16:56839485 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 non_coding_transcript_exon_variant -0.103176 0.15994 0.03236 0.295142 0.571023164506569 0.0809684 0.00486804388235231 FALSE 4.50662e-06 ENSE00000684695_002 ENSE00000684695 002 16 56873385 56873554 + 48 84 38 G A 56873400 1838 16 ATGACTGTGATGGTTATGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839487 56839488 56839488 upstr_intron -33 -0.666666666666667 ATGACTGTGATGGTTATGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant 48 46 0.85 0.85 0.85 115 438 0.945451484972446 0.941280717562117 0.943366101267281 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 0.0125587590863564 0.053720163695288 0.142303558671674 0.128274890050942 0.816860538609178 0.808076876905973 0.0331394613908222 0.135289224361308 0.102149762970486 FALSE FALSE 0 -0.087 . intron_variant MODIFIER NUP93 HGNC 28958 ENST00000563486 2/2 1 NA TGT G,A 8.237e-06 16:56839488 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 non_coding_transcript_exon_variant 0.337232 0.30378 0.10723 0.295142 0.508874362923029 0.0809684 0.00486804388235231 FALSE 4.46744e-06 ENSE00000684695_004 ENSE00000684695 004 16 56873385 56873554 + 48 84 38 G A 56873416 1840 32 ATGACTGTGATGGTTGTGTTACATGGGGCCGATGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839503 56839504 56839504 upstr_intron -17 -0.333333333333333 ATGACTGTGATGGTTGTGTTACATGGGGCCGATGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant 74 90 0.85 0.85 0.85 859 236 0.739913171612103 0.8 0.769956585806052 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 0.0125587590863564 0.053720163695288 -0.0632347546886683 -0.0130058275111744 0.816860538609178 0.808076876905973 0.0331394613908222 -0.0381202910999214 0.0712597524907436 FALSE FALSE 0.001 -0.215 . intron_variant MODIFIER NUP93 HGNC 28958 ENST00000563486 2/2 1 NA GGT G,A 8.237e-06 16:56839504 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 non_coding_transcript_exon_variant 0.065953 0.29525 0.1012 0.295142 0.39290399628924 0.110229 0.00486804388235231 FALSE 8.59291e-06 ENSE00000684695_005 ENSE00000684695 005 16 56873385 56873554 + 48 84 38 T G 56873421 1841 37 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTGGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839508 56839509 56839509 upstr_intron -12 -0.229166666666667 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTGGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant 242 293 0 0 0 46 670 0 0 0 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 -0.837441240913644 -0.796279836304712 -0.803147926300772 -0.813005827511174 0.816860538609178 0.808076876905973 -0.816860538609178 -0.808076876905973 0.00878366170320477 TRUE TRUE 1 1.826 . intron_variant MODIFIER NUP93 HGNC 28958 ENST00000563486 2/2 1 NA TTG T,G 1.647e-05 16:56839509 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 non_coding_transcript_exon_variant 0.400288 0.60531 0.64215 0.295142 0.617380979200707 0.175114 0.00486804388235231 FALSE 1.71658e-05 ENSE00000684695_007 ENSE00000684695 007 16 56873385 56873554 + 48 84 38 T C 56873426 1843 42 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTCAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839513 56839514 56839514 upstr_intron -7 -0.125 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTCAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant NA NA NA NA NA 423 287 0.794972996904673 0.82786880346942 0.811420900187046 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 NA NA -0.00817492939609887 0.0148629759582456 0.816860538609178 0.808076876905973 NA 0.00334402328107336 NA FALSE NA 0.998 2.225 . splice_region_variant&intron_variant LOW NUP93 HGNC 28958 ENST00000563486 2/2 rs564038516 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTA T,C 1.647e-05 16:56839514 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 splice_region_variant 1.081641 0.87341 0.41791 0.156188 0.835357616138568 0.478001 0.00486804388235231 FALSE 8.34725e-06 ENSE00000684695_011 ENSE00000684695 011 16 56873385 56873554 + 48 84 38 G A 56873443 1847 59 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCACTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839530 56839531 56839531 exon 11 0.130952380952381 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCACTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant 122 87 0 0 0 NA NA NA NA NA 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 -0.837441240913644 -0.796279836304712 NA NA 0.816860538609178 0.808076876905973 -0.816860538609178 NA NA NA TRUE 1 4.629 . missense_variant MODERATE NUP93 HGNC 28958 ENST00000563486 3/3 rs200856369 1 deleterious(0.05) benign(0.027) NA CGC G,A 8.236e-06 16:56839531 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 missense_variant 4.683127 0.96277 0.82483 0.732398 0.998512858736073 0 0.00486804388235231 FALSE 8.18304e-06 ENSE00000684695_013 ENSE00000684695 013 16 56873385 56873554 + 48 84 38 G T 56873481 1849 97 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAATAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839568 56839569 56839569 exon -36 0.583333333333333 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAATAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant 59 113 0 0 0 NA NA NA NA NA 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 -0.837441240913644 -0.796279836304712 NA NA 0.816860538609178 0.808076876905973 -0.816860538609178 NA NA NA TRUE 1 9.642 . stop_gained HIGH NUP93 HGNC 28958 ENST00000563486 3/3 1 NA HC AGA G,T 8.236e-06 16:56839569 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 stop_gained 15.454612 0.97568 0.9445 0.732398 0.997388642509549 0 0.00486804388235231 FALSE 1.62476e-05 ENSE00000684695_015 ENSE00000684695 015 16 56873385 56873554 + 48 84 38 A G 56873482 1851 98 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGGGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839569 56839570 56839570 exon -35 0.595238095238095 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGGGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant NA NA NA NA NA 112 119 0.0026917458667365 0 0.00134587293336825 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 NA NA -0.800456180434035 -0.813005827511174 0.816860538609178 0.808076876905973 NA -0.806731003972605 NA TRUE NA 1 9.127 NA NA NA NUP93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:56839570 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 missense_variant 5.240915 0.96867 0.9333 0.732398 0.998978602095012 0 0.00486804388235231 FALSE 8.12414e-06 ENSE00000684695_016 ENSE00000684695 016 16 56873385 56873554 + 48 84 38 T G 56873492 1852 108 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCGGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839579 56839580 56839580 exon -25 0.714285714285714 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCGGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant 26 45 0.85 0.85 0.85 145 1424 0.95 0.937562932940523 0.943781466470261 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 0.0125587590863564 0.053720163695288 0.146852073699228 0.124557105429348 0.816860538609178 0.808076876905973 0.0331394613908222 0.135704589564288 0.102565128173466 FALSE FALSE 0.366 -0.448 . synonymous_variant LOW NUP93 HGNC 28958 ENST00000563486 3/3 1 NA CTG T,G 8.236e-06 16:56839580 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 synonymous_variant 1.004362 0.91347 0.39526 0.732398 0.599825225574405 0 0.00486804388235231 FALSE 4.06362e-06 ENSE00000684695_017 ENSE00000684695 017 16 56873385 56873554 + 48 84 38 A G 56873499 1853 115 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCGGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839586 56839587 56839587 exon -18 0.797619047619048 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCGGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant 15 37 0.85 0.85 0.85 111 10 0.990748055618912 0.9190730845913 0.954910570105106 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 0.0125587590863564 0.053720163695288 0.18760012931814 0.106067257080125 0.816860538609178 0.808076876905973 0.0331394613908222 0.146833693199133 0.113694231808311 FALSE FALSE 1 1.87 . missense_variant MODERATE NUP93 HGNC 28958 ENST00000563486 3/3 1 tolerated(0.08) benign(0.07) NA CAG A,G 6.589e-05 16:56839587 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 missense_variant 4.145119 0.9183 0.77046 0.732398 0.995549225332536 0 0.00486804388235231 FALSE 6.50037e-05 ENSE00000684695_018 ENSE00000684695 018 16 56873385 56873554 + 48 84 38 G A 56873534 1854 150 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTAAGTTGTGGAATTCCTTTTTC 56839472 56839642 56839621 56839622 56839622 downstr_intron 18 1.48648648648649 ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTAAGTTGTGGAATTCCTTTTTC ATGACTGTGATGGTTGTGTTACATGGGGCCGGTGGTTGTTTTAAACAGATCATTGAGCGCTTGAAGCTGGTGCCCCTGAATCAGGAAAGTGTGGAAGAGAGAGTGGCTGCCTTCAGAAATTTCAGTGATGAAGTAAGTTCCTTCTTCCTGAGTTGTGGAATTCCTTTTTC mutant 70 51 0.85 0.905862225748407 0.877931112874203 NA NA NA NA NA 0.837441240913644 0.796279836304712 0.803147926300772 0.813005827511174 0.0125587590863564 0.109582389443695 NA NA 0.816860538609178 0.808076876905973 0.0610705742650256 NA NA NA FALSE 0 0.294 rs181965012 synonymous_variant LOW NUP93 HGNC 28958 ENST00000563486 3/3 rs181965012 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGA G,A 8.237e-06 16:56839622 NUP93 HGNC Symbol protein_coding 120181 ENSG00000102900 ENSE00000684695 synonymous_variant 0.390164 0.20834 0.06446 0.562547 0.454011648716533 0 0.00486804388235231 FALSE 4.07156e-06 ENSE00000684876_000 ENSE00000684876 000 6 11000279 11000448 - 41 78 51 NA NA NA NA NA CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 NA NA NA NA NA NA CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC natural 63 55 0.982662588528925 0.960204476253977 0.971433532391451 5360 3671 0.77920018529384 0.964982799475025 0.872091492384432 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 0 0 0 0 0.971433532391451 0.872091492384432 0 0 0 FALSE FALSE NA NA NA NA NA ELOVL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELOVL2 NA NA NA ENSG00000197977 ENSE00000684876 NA NA NA NA NA NA NA 0.000198697181598092 FALSE NA ENSE00000684876_001 ENSE00000684876 001 6 11000279 11000448 - 41 78 51 G C 11000292 65 157 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAAGTATAACCAGTTCC 11000045 11000215 11000058 11000059 11000059 downstr_intron 28 1.7 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAAGTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 100 121 1 1 1 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0350172005249755 0.971433532391451 0.872091492384432 NA 0.127908507615568 NA FALSE NA 0 -0.567 . intron_variant MODIFIER ELOVL2 HGNC 14416 ENST00000354666 4/7 1 NA AGT G,C 8.236e-06 6:11000059 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 intron_variant -0.131933 0.19772 0.05457 0.095506 0.235569556465237 0.0508484 0.000198697181598092 FALSE 1.21872e-05 ENSE00000684876_002 ENSE00000684876 002 6 11000279 11000448 - 41 78 51 T C 11000307 66 142 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGGAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000073 11000074 11000074 downstr_intron 13 1.325 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGGAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 358 235 1 0.990201535272469 0.995100767636235 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0252187357974448 0.971433532391451 0.872091492384432 NA 0.123009275251802 NA FALSE NA 0 -0.699 . intron_variant MODIFIER ELOVL2 HGNC 14416 ENST00000354666 4/7 1 NA TTC T,C 8.236e-06 6:11000074 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 intron_variant 0.502778 0.2435 0.08784 0.095506 0.716942325184157 0.121508 0.000198697181598092 FALSE NA ENSE00000684876_003 ENSE00000684876 003 6 11000279 11000448 - 41 78 51 C T 11000308 67 141 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAAAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000074 11000075 11000075 downstr_intron 12 1.3 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAAAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 15 552 1 1 1 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0350172005249755 0.971433532391451 0.872091492384432 NA 0.127908507615568 NA FALSE NA 0 -0.535 . intron_variant MODIFIER ELOVL2 HGNC 14416 ENST00000354666 4/7 1 NA TCT C,T 8.236e-06 6:11000075 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 intron_variant 1.051802 0.26783 0.06299 0.095506 0.80260928319915 0.0775466 0.000198697181598092 FALSE 4.06161e-06 ENSE00000684876_004 ENSE00000684876 004 6 11000279 11000448 - 41 78 51 T C 11000309 68 140 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTGGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000075 11000076 11000076 downstr_intron 11 1.275 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTGGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 1625 471 0.998053548280638 0.996398964475141 0.997226256377889 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.218853362986798 0.031416165000116 0.971433532391451 0.872091492384432 NA 0.125134763993457 NA FALSE NA 0.007 1.559 . intron_variant MODIFIER ELOVL2 HGNC 14416 ENST00000354666 4/7 1 NA CTA T,C 3.295e-05 6:11000076 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 intron_variant 0.838221 0.29969 0.32395 0.095506 0.816983705235712 0.0775466 0.000198697181598092 FALSE 2.03082e-05 ENSE00000684876_005 ENSE00000684876 005 6 11000279 11000448 - 41 78 51 G A 11000311 69 138 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCATTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000077 11000078 11000078 downstr_intron 9 1.225 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCATTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 161 686 1 0.999219529023228 0.999609764511614 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0342367295482032 0.971433532391451 0.872091492384432 NA 0.127518272127182 NA FALSE NA 0 -0.335 rs188358549 intron_variant MODIFIER ELOVL2 HGNC 14416 ENST00000354666 4/7 rs188358549 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGT G,A 8.236e-06 6:11000078 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 intron_variant 0.956275 0.24074 0.04293 0.118714 0.804872649353614 0.103001 0.000198697181598092 FALSE 4.06134e-06 ENSE00000684876_008 ENSE00000684876 008 6 11000279 11000448 - 41 78 51 G A 11000322 72 127 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCTGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000088 11000089 11000089 exon -3 0.974358974358974 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCTGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 313 605 0.983992057413776 1 0.991996028706888 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.204791872119936 0.0350172005249755 0.971433532391451 0.872091492384432 NA 0.119904536322456 NA FALSE NA 1 3.349 . missense_variant&splice_region_variant MODERATE ELOVL2 HGNC 14416 ENST00000354666 4/8 COSM297280 1 deleterious(0) probably_damaging(1) NA CGG G,A 8.236e-06 6:11000089 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 missense_variant 7.376844 0.94278 0.88018 0.615465 0.999175579754121 0 0.000198697181598092 FALSE 1.6246e-05 ENSE00000684876_009 ENSE00000684876 009 6 11000279 11000448 - 41 78 51 G C 11000323 73 126 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATGCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000089 11000090 11000090 exon -4 0.961538461538462 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATGCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 1007 828 0.992624011946384 0.99150131168888 0.992062661817632 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.213423826652544 0.0265185122138553 0.971433532391451 0.872091492384432 NA 0.119971169433199 NA FALSE NA 0.996 0.498 . missense_variant MODERATE ELOVL2 HGNC 14416 ENST00000354666 4/8 1 tolerated(0.78) benign(0.043) NA GGA G,C 8.236e-06 6:11000090 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 missense_variant 0.59567 0.8859 0.79056 0.615465 0.672576305983353 0 0.000198697181598092 FALSE 2.43679e-05 ENSE00000684876_010 ENSE00000684876 010 6 11000279 11000448 - 41 78 51 C T 11000337 74 112 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAAGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000103 11000104 11000104 exon -18 0.782051282051282 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAAGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 1576 535 0.999097493917981 0.995764551847547 0.997431022882764 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.219897308624141 0.030781752372522 0.971433532391451 0.872091492384432 NA 0.125339530498331 NA FALSE NA 0.995 3.438 . missense_variant MODERATE ELOVL2 HGNC 14416 ENST00000354666 4/8 1 tolerated(0.1) probably_damaging(1) NA CCT C,T 8.236e-06 6:11000104 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 missense_variant 5.726963 0.95686 0.93168 0.615465 0.99875261833168 0 0.000198697181598092 FALSE 4.06101e-06 ENSE00000684876_011 ENSE00000684876 011 6 11000279 11000448 - 41 78 51 C T 11000340 75 109 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCACAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000106 11000107 11000107 exon -21 0.743589743589744 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCACAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 179 1013 1 0.999623429423717 0.999811714711858 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.034640629948692 0.971433532391451 0.872091492384432 NA 0.127720222327426 NA FALSE NA 1 7.083 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:11000107 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 missense_variant 5.913136 0.97872 0.98297 0.615465 0.995451497593047 0 0.000198697181598092 FALSE 4.06105e-05 ENSE00000684876_012 ENSE00000684876 012 6 11000279 11000448 - 41 78 51 C G 11000340 76 109 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCCCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000106 11000107 11000107 exon -21 0.743589743589744 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCCCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 164 300 1 1 1 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0350172005249755 0.971433532391451 0.872091492384432 NA 0.127908507615568 NA FALSE NA 1 7.083 NA NA NA ELOVL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELOVL2 NA NA NA ENSG00000197977 ENSE00000684876 missense_variant 5.951372 0.97949 0.98434 0.615465 0.996021546550194 0 0.000198697181598092 FALSE 4.06105e-06 ENSE00000684876_016 ENSE00000684876 016 6 11000279 11000448 - 41 78 51 C G 11000375 80 74 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGCAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000141 11000142 11000142 exon 23 0.294871794871795 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGCAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 979 228 0.997801305265083 0.999305715561682 0.998553510413382 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.218601119971243 0.0343229160866573 0.971433532391451 0.872091492384432 NA 0.12646201802895 NA FALSE NA 1 5.263 rs138252390 missense_variant MODERATE ELOVL2 HGNC 14416 ENST00000354666 4/8 rs138252390 1 tolerated(0.6) benign(0.281) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 TCC C,G 4.942e-05 6:11000142 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 missense_variant 1.014919 0.95001 0.92524 0.554377 0.971896295183723 0 0.000198697181598092 FALSE 2.43673e-05 ENSE00000684876_017 ENSE00000684876 017 6 11000279 11000448 - 41 78 51 T C 11000377 81 72 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAGGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000143 11000144 11000144 exon 21 0.269230769230769 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAGGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 848 719 1 0.984036304821748 0.992018152410874 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0190535053467231 0.971433532391451 0.872091492384432 NA 0.119926660026441 NA FALSE NA 1 2.218 . synonymous_variant LOW ELOVL2 HGNC 14416 ENST00000354666 4/8 rs562922380 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTT T,C 8.236e-06 6:11000144 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 synonymous_variant 0.10848 0.94089 0.90571 0.554377 0.81737815018932 0 0.000198697181598092 FALSE 4.06114e-06 ENSE00000684876_018 ENSE00000684876 018 6 11000279 11000448 - 41 78 51 A G 11000383 82 66 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACCTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000149 11000150 11000150 exon 15 0.192307692307692 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACCTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 393 1050 0.993303679104792 1 0.996651839552396 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.214103493810952 0.0350172005249755 0.971433532391451 0.872091492384432 NA 0.124560347167964 NA FALSE NA 0 -2.144 . synonymous_variant LOW ELOVL2 HGNC 14416 ENST00000354666 4/8 1 NA AAG A,G 8.236e-06 6:11000150 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 synonymous_variant 0.453721 0.38568 0.08686 0.554377 0.662369895871728 0 0.000198697181598092 FALSE 8.12282e-06 ENSE00000684876_019 ENSE00000684876 019 6 11000279 11000448 - 41 78 51 G A 11000395 83 54 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTTATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000161 11000162 11000162 exon 3 0.0384615384615385 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTTATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 346 321 1 0.992033973504118 0.996016986752059 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0270511740290933 0.971433532391451 0.872091492384432 NA 0.123925494367627 NA FALSE NA 0.866 0.334 . splice_region_variant&synonymous_variant LOW ELOVL2 HGNC 14416 ENST00000354666 4/8 1 NA TGA G,A 1.647e-05 6:11000162 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 splice_region_variant 1.815059 0.91413 0.54475 0.554377 0.798430343534198 0 0.000198697181598092 FALSE 2.03107e-05 ENSE00000684876_020 ENSE00000684876 020 6 11000279 11000448 - 41 78 51 G A 11000397 84 52 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGTTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000163 11000164 11000164 exon 1 0.0128205128205128 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGTTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 459 936 0.99955084181063 1 0.999775420905315 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22035065651679 0.0350172005249755 0.971433532391451 0.872091492384432 NA 0.127683928520883 NA FALSE NA 1 7.195 . missense_variant&splice_region_variant MODERATE ELOVL2 HGNC 14416 ENST00000354666 4/8 1 deleterious(0.01) probably_damaging(1) NA AGC G,A 8.236e-06 6:11000164 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 missense_variant 4.698345 0.97003 0.96147 0.554377 0.998540332413085 0 0.000198697181598092 FALSE 4.06233e-06 ENSE00000684876_021 ENSE00000684876 021 6 11000279 11000448 - 41 78 51 A G 11000403 85 46 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTCGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000169 11000170 11000170 upstr_intron -6 -0.0980392156862745 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTCGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 84 576 1 0.999725331509356 0.999862665754678 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0347425320343311 0.971433532391451 0.872091492384432 NA 0.127771173370245 NA FALSE NA 0.176 2.694 . splice_region_variant&intron_variant LOW ELOVL2 HGNC 14416 ENST00000354666 3/7 rs375126320 1 NA G:0 G:0.0001 CAA A,G 8.236e-06 6:11000170 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 splice_region_variant 1.217826 0.46548 0.57219 0.118714 0.897759812981472 0.447922 0.000198697181598092 FALSE 4.06316e-06 ENSE00000684876_023 ENSE00000684876 023 6 11000279 11000448 - 41 78 51 C A 11000409 87 40 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGTTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000175 11000176 11000176 upstr_intron -12 -0.215686274509804 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGTTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 525 742 0.834222864437845 0.910781371917936 0.872502118177891 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.055022679144005 -0.0542014275570886 0.971433532391451 0.872091492384432 NA 0.000410625793458241 NA FALSE NA 0 -1.33 . intron_variant MODIFIER ELOVL2 HGNC 14416 ENST00000354666 3/7 1 NA ACC C,A 8.237e-06 6:11000176 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 intron_variant 0.185187 0.18536 0.02175 0.118714 0.465458015866105 0.278537 0.000198697181598092 FALSE 4.0654e-06 ENSE00000684876_024 ENSE00000684876 024 6 11000279 11000448 - 41 78 51 A G 11000415 88 34 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTCTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000181 11000182 11000182 upstr_intron -18 -0.333333333333333 CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTCTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 16 1679 1 1 1 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.22079981470616 0.0350172005249755 0.971433532391451 0.872091492384432 NA 0.127908507615568 NA FALSE NA 0 0.624 . intron_variant MODIFIER ELOVL2 HGNC 14416 ENST00000354666 3/7 1 NA AAA A,G 1.647e-05 6:11000182 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 intron_variant 0.317503 0.25012 0.08518 0.118714 0.765516813440498 0.275084 0.000198697181598092 FALSE 6.92166e-05 ENSE00000684876_026 ENSE00000684876 026 6 11000279 11000448 - 41 78 51 A G 11000438 90 11 CAAATTCTTGCGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC 11000045 11000215 11000204 11000205 11000205 upstr_intron -41 -0.784313725490196 CAAATTCTTGCGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC CAAATTCTTGTGCTGATGTTTGTTTTTCTTTCTTTCTTGGTTCTTTGGCAGCTCATTCTCTCCACTTGGGAAGGAGGCTACAACTTACAGTGTCAAGATCTTACCAGCGCAGGGGAAGCTGACATCCGGGTGAGCCACTAGAAGCAAATCAACCAACTATAACCAGTTCC mutant NA NA NA NA NA 2118 962 0.995091243562115 1 0.997545621781058 0.982662588528925 0.960204476253977 0.77920018529384 0.964982799475025 NA NA 0.215891058268275 0.0350172005249755 0.971433532391451 0.872091492384432 NA 0.125454129396625 NA FALSE NA 0 -0.074 . intron_variant MODIFIER ELOVL2 HGNC 14416 ENST00000354666 3/7 1 NA CAC A,G 8.238e-06 6:11000205 ELOVL2 HGNC Symbol protein_coding 63555 ENSG00000197977 ENSE00000684876 intron_variant 0.101603 0.31278 0.08201 0.118714 0.711755194208918 0.160414 0.000198697181598092 FALSE 4.14841e-06 ENSE00000685611_000 ENSE00000685611 000 16 58052828 58052997 + 48 84 38 NA NA NA NA NA CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 NA NA NA NA NA NA CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT natural 98 104 0.844386542879201 0.841763269672194 0.843074906275697 123 1547 0.949359411870628 0.815463593314603 0.882411502592615 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 0 0 0 0 0.843074906275697 0.882411502592615 0 0 0 FALSE FALSE NA NA NA NA NA USB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USB1 NA NA NA ENSG00000103005 ENSE00003562189 NA NA NA NA NA NA NA 0.12277471565959 FALSE NA ENSE00000685611_001 ENSE00000685611 001 16 58052828 58052997 + 48 84 38 C T 58052838 2040 11 CCTGCCAAGGTGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58018933 58018934 58018934 upstr_intron -38 -0.770833333333333 CCTGCCAAGGTGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant NA NA NA NA NA 21 132 1 0.975750089711412 0.987875044855706 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 NA NA 0.0506405881293718 0.160286496396809 0.843074906275697 0.882411502592615 NA 0.105463542263091 NA FALSE NA 0 -0.218 . intron_variant&non_coding_transcript_variant MODIFIER USB1 HGNC 25792 ENST00000565151 2/2 rs374897546 1 NA T:0 T:0.0001 GCG C,T 8.237e-06 16:58018934 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 intron_variant 0.279325 0.12988 0.01164 0.099367 0.576671392371089 0.0740994 0.12277471565959 FALSE 8.25627e-06 ENSE00000685611_003 ENSE00000685611 003 16 58052828 58052997 + 48 84 38 C T 58052842 2042 15 CCTGCCAAGGCGTCTGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58018937 58018938 58018938 upstr_intron -34 -0.6875 CCTGCCAAGGCGTCTGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant NA NA NA NA NA 679 56 0.966222584186749 0.96068656587607 0.963454575031409 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 NA NA 0.0168631723161204 0.145222972561468 0.843074906275697 0.882411502592615 NA 0.0810430724387941 NA FALSE NA 0 0.021 . intron_variant&non_coding_transcript_variant MODIFIER USB1 HGNC 25792 ENST00000565151 2/2 rs372358610 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0018 T:0 CCG C,T 0.0001565 16:58018938 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 intron_variant 0.509622 0.13671 0.02077 0.099367 0.383751490295056 0.0740994 0.12277471565959 FALSE 0.000119409 ENSE00000685611_004 ENSE00000685611 004 16 58052828 58052997 + 48 84 38 G A 58052843 2043 16 CCTGCCAAGGCGTCCAGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58018938 58018939 58018939 upstr_intron -33 -0.666666666666667 CCTGCCAAGGCGTCCAGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant NA NA NA NA NA 73 204 0.803560904837281 0.821350038959251 0.812455471898266 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 NA NA -0.145798507033347 0.00588644564464802 0.843074906275697 0.882411502592615 NA -0.0699560306943495 NA FALSE NA 0.001 -1.421 . intron_variant&non_coding_transcript_variant MODIFIER USB1 HGNC 25792 ENST00000565151 2/2 rs374592059 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 CGG G,A 0.0001483 16:58018939 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 intron_variant -0.148468 0.08116 0.00965 0.099367 0.438984120340065 0.0934752 0.12277471565959 FALSE 0.000106969 ENSE00000685611_007 ENSE00000685611 007 16 58052828 58052997 + 48 84 38 C T 58052857 2046 30 CCTGCCAAGGCGTCCGGGTGACTGCCTGCTTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58018952 58018953 58018953 upstr_intron -19 -0.375 CCTGCCAAGGCGTCCGGGTGACTGCCTGCTTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant 134 181 0.868322182973687 0.85 0.859161091486843 NA NA NA NA NA 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 0.023935640094486 0.00823673032780581 NA NA 0.843074906275697 0.882411502592615 0.0160861852111459 NA NA NA FALSE 0 -0.531 . intron_variant&non_coding_transcript_variant MODIFIER USB1 HGNC 25792 ENST00000565151 2/2 1 NA CCT C,T 3.295e-05 16:58018953 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 intron_variant 0.554536 0.29931 0.03741 0.156188 0.677883922631093 0.149711 0.12277471565959 FALSE 3.68605e-05 ENSE00000685611_011 ENSE00000685611 011 16 58052828 58052997 + 48 84 38 G C 58052862 2050 35 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCCTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58018957 58018958 58018958 upstr_intron -14 -0.270833333333333 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCCTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant 91 170 0.85 0.85 0.85 2038 359 0.942261928766152 0.937742853217833 0.940002390991993 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 0.0056134571207993 0.00823673032780581 -0.00709748310447578 0.12227925990323 0.843074906275697 0.882411502592615 0.00692509372430256 0.0575908883993773 0.0506657946750747 FALSE FALSE 0 -0.967 NA NA NA USB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:58018958 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 intron_variant -0.251741 0.1283 0.02307 0.156188 0.63588395480621 0.154911 0.12277471565959 FALSE 4.09289e-06 ENSE00000685611_013 ENSE00000685611 013 16 58052828 58052997 + 48 84 38 G A 58052907 2052 80 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTATGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58019002 58019003 58019003 exon 32 0.380952380952381 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTATGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant NA NA NA NA NA 124 79 0.8 0.836933998725251 0.818466999362626 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 NA NA -0.149359411870628 0.0214704054106485 0.843074906275697 0.882411502592615 NA -0.0639445032299898 NA FALSE NA 1 7.51 rs146685901 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USB1 HGNC 25792 ENST00000565151 3/3 rs146685901 1 A:0.0020 A:0.0076 A:0 NA A:0 A:0 A:0 A:0.0071 A:0 TGT G,A 0.000626 16:58019003 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 missense_variant 6.024436 0.93533 0.88317 0.77792 0.997589190102808 0 0.12277471565959 FALSE 0.000521653 ENSE00000685611_015 ENSE00000685611 015 16 58052828 58052997 + 48 84 38 C T 58052921 2054 94 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCATGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58019016 58019017 58019017 exon -39 0.547619047619048 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCATGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant 42 46 0.836838104721306 0.85 0.843419052360653 NA NA NA NA NA 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 -0.0075484381578943 0.00823673032780581 NA NA 0.843074906275697 0.882411502592615 0.000344146084955754 NA NA NA FALSE 0 0.419 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USB1 HGNC 25792 ENST00000565151 3/3 rs554516072 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 0.0001647 16:58019017 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 missense_variant 2.205635 0.15938 0.04177 0.77792 0.924865254115626 0 0.12277471565959 FALSE 0.000167105 ENSE00000685611_016 ENSE00000685611 016 16 58052828 58052997 + 48 84 38 G A 58052922 2055 95 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACATCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58019017 58019018 58019018 exon -38 0.55952380952381 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACATCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant NA NA NA NA NA 27 358 0.8 0.8 0.8 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 NA NA -0.149359411870628 -0.0154635933146026 0.843074906275697 0.882411502592615 NA -0.0824115025926154 NA FALSE NA 0 1.046 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USB1 HGNC 25792 ENST00000565151 3/3 1 NA CGT G,A 1.647e-05 16:58019018 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 missense_variant 0.942389 0.16696 0.05799 0.77792 0.867808391913226 0 0.12277471565959 FALSE 1.6306e-05 ENSE00000685611_019 ENSE00000685611 019 16 58052828 58052997 + 48 84 38 T G 58052967 2058 140 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTGCCAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58019062 58019063 58019063 downstr_intron 8 1.21621621621622 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTGCCAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant NA NA NA NA NA 179 52 0.810748864612356 0.844942813331277 0.827845838971817 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 NA NA -0.138610547258272 0.0294792200166747 0.843074906275697 0.882411502592615 NA -0.0545656636207988 NA FALSE NA 0 1.242 . downstream_gene_variant MODIFIER USB1 HGNC 25792 ENST00000565151 1 NA TTC T,G 8.236e-06 16:58019063 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 splice_region_variant -0.096132 0.28928 0.10484 0.099367 0.675640896257746 0.382405 0.12277471565959 FALSE 4.09323e-06 ENSE00000685611_020 ENSE00000685611 020 16 58052828 58052997 + 48 84 38 C A 58052968 2059 141 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTACAGGGCGGGAGCACAGAGGGCGCTGAACT 58018923 58019093 58019063 58019064 58019064 downstr_intron 9 1.24324324324324 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTACAGGGCGGGAGCACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant NA NA NA NA NA 44 128 0.8 0.95 0.875 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 NA NA -0.149359411870628 0.134536406685397 0.843074906275697 0.882411502592615 NA -0.00741150259261536 NA FALSE NA 0 -0.077 . downstream_gene_variant MODIFIER USB1 HGNC 25792 ENST00000565151 1 NA TCC C,A 8.236e-06 16:58019064 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 intron_variant 0.540071 0.38209 0.1368 0.099367 0.738693735989996 0.755942 0.12277471565959 FALSE 8.19155e-06 ENSE00000685611_024 ENSE00000685611 024 16 58052828 58052997 + 48 84 38 G A 58052979 2063 152 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAACACAGAGGGCGCTGAACT 58018923 58019093 58019074 58019075 58019075 downstr_intron 20 1.54054054054054 CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAACACAGAGGGCGCTGAACT CCTGCCAAGGCGTCCGGGTGACTGCCTGCCTCTCGTTTCCCTCCCCAGGATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTCCAGCTGGAGGGGCAGTGCCTGCAGGAACTACAGGTGAATTTCCAGGGCGGGAGCACAGAGGGCGCTGAACT mutant 18 13 0.85 0.85 0.85 NA NA NA NA NA 0.844386542879201 0.841763269672194 0.949359411870628 0.815463593314603 0.0056134571207993 0.0082367303278057 NA NA 0.843074906275697 0.882411502592615 0.0069250937243025 NA NA NA FALSE 0.001 0.377 NA NA NA USB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:58019075 USB1 HGNC Symbol protein_coding 22072 ENSG00000103005 ENSE00003562189 intron_variant -0.070208 0.16278 0.04523 0.099367 0.754606342579218 0.221424 0.12277471565959 FALSE 4.1214e-06 ENSE00000686544_000 ENSE00000686544 000 19 16552668 16552837 - 35 90 45 NA NA NA NA NA TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 NA NA NA NA NA NA TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG natural 44 60 0.999615018679624 0.99698935323513 0.998302185957377 1148 2356 0.885595307891407 0.916809321149681 0.901202314520544 0.999615018679624 0.99698935323513 0.885595307891407 0.916809321149681 0 0 0 0 0.998302185957377 0.901202314520544 0 0 0 FALSE FALSE NA NA NA NA NA EPS15L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPS15L1 NA NA NA ENSG00000127527 ENSE00003564260 NA NA NA NA NA NA NA 0.970002535208416 TRUE NA ENSE00000686671_000 ENSE00000686671 000 19 16547700 16547869 - 48 63 59 NA NA NA NA NA CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 NA NA NA NA NA NA CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT natural 74 36 0.967770460730221 0.976974038534539 0.97237224963238 3960 4491 0.876720627582643 0.9442939134874 0.910507270535021 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 0 0 0 0 0.97237224963238 0.910507270535021 0 0 0 FALSE FALSE NA NA NA NA NA EPS15L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPS15L1 NA NA NA ENSG00000127527 ENSE00003647888 NA NA NA NA NA NA NA 0.970002535208416 TRUE NA ENSE00000686671_001 ENSE00000686671 001 19 16547700 16547869 - 48 63 59 C T 16547718 1426 152 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGACTCTCCTTCAGATAGAAT 16436888 16437058 16436906 16436907 16436907 downstr_intron 30 1.63829787234043 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGACTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 15 38 0.991275461888597 0.916754739600001 0.954015100744299 104 170 1 0.999551012973187 0.999775506486593 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 0.0235050011583767 -0.0602192989345387 0.123279372417357 0.0552570994857869 0.97237224963238 0.910507270535021 -0.018357148888081 0.089268235951572 0.107625384839653 FALSE FALSE 0.022 0.431 . intron_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/7 rs373660699 1 NA T:0.0016 T:0 GCC C,T 0.00014 19:16436907 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 non_coding_transcript_exon_variant 0.375353 0.22383 0.01979 0.120541 0.685865912478159 0.103098 0.970002535208416 TRUE 0.000119689 ENSE00000686671_002 ENSE00000686671 002 19 16547700 16547869 - 48 63 59 A C 16547732 1427 138 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAAGAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436920 16436921 16436921 downstr_intron 16 1.34042553191489 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAAGAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 329 310 0.838412177062551 0.991735588235851 0.915073882649201 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA -0.0383084505200925 0.0474416747484511 0.97237224963238 0.910507270535021 NA 0.0045666121141793 NA FALSE NA 0 -0.101 . intron_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/7 rs367797741 1 NA C:0 C:0.0002 TAT A,C 1.647e-05 19:16436921 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 non_coding_transcript_exon_variant 0.012855 0.19792 0.03055 0.279481 0.665299479303042 0.0817234 0.970002535208416 TRUE 1.22341e-05 ENSE00000686671_003 ENSE00000686671 003 19 16547700 16547869 - 48 63 59 C T 16547737 1428 133 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACAGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436925 16436926 16436926 downstr_intron 11 1.23404255319149 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACAGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 75 264 0.85 0.85 0.85 5292 688 0.948387381222874 0.919939839121769 0.934163610172321 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.117770460730221 -0.126974038534539 0.0716667536402306 -0.0243540743656312 0.97237224963238 0.910507270535021 -0.12237224963238 0.0236563396372997 0.14602858926968 FALSE FALSE 0 -1.416 . intron_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/7 1 NA CCG C,T 1.647e-05 19:16436926 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 non_coding_transcript_exon_variant 1.052604 0.18488 0.02205 0.279481 0.786081294429014 0.136645 0.970002535208416 TRUE 1.63039e-05 ENSE00000686671_004 ENSE00000686671 004 19 16547700 16547869 - 48 63 59 C G 16547749 1429 121 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGACGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436937 16436938 16436938 exon -2 0.984126984126984 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGACGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 229 304 1 0.92011797928859 0.960058989644295 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.123279372417357 -0.02417593419881 0.97237224963238 0.910507270535021 NA 0.0495517191092735 NA FALSE NA 1 3.107 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA CCT C,G 8.236e-06 19:16436938 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 6.149106 0.94826 0.91476 0.730579 0.97322640974542 0 0.970002535208416 TRUE 4.06769e-06 ENSE00000686671_005 ENSE00000686671 005 19 16547700 16547869 - 48 63 59 C T 16547753 1430 117 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTATGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436941 16436942 16436942 exon -6 0.920634920634921 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTATGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 794 15 0.999806948819544 1 0.999903474409772 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.123086321236901 0.0557060865126001 0.97237224963238 0.910507270535021 NA 0.0893962038747507 NA FALSE NA 1 6.689 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA ACA C,T 8.236e-06 19:16436942 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 6.789773 0.96297 0.95261 0.730579 0.998707545726344 0 0.970002535208416 TRUE NA ENSE00000686671_006 ENSE00000686671 006 19 16547700 16547869 - 48 63 59 A G 16547754 1431 116 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCCGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436942 16436943 16436943 exon -7 0.904761904761905 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCCGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 160 1368 0.910773917518628 0.987739654727439 0.949256786123033 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.0340532899359854 0.0434457412400386 0.97237224963238 0.910507270535021 NA 0.038749515588012 NA FALSE NA 0.721 -0.103 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA CAG A,G 8.236e-06 19:16436943 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 synonymous_variant 0.219518 0.86732 0.42232 0.730579 0.694674742611111 0 0.970002535208416 TRUE 4.06663e-06 ENSE00000686671_007 ENSE00000686671 007 19 16547700 16547869 - 48 63 59 G A 16547755 1432 115 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGTTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436943 16436944 16436944 exon -8 0.888888888888889 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGTTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 563 151 0.999727706633934 1 0.999863853316967 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.123007079051291 0.0557060865126001 0.97237224963238 0.910507270535021 NA 0.0893565827819454 NA FALSE NA 1 3.614 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA AGC G,A 8.236e-06 19:16436944 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 3.371006 0.9308 0.85554 0.730579 0.996219891174929 0 0.970002535208416 TRUE 4.06524e-06 ENSE00000686671_008 ENSE00000686671 008 19 16547700 16547869 - 48 63 59 T G 16547761 1433 109 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCCCTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436949 16436950 16436950 exon -14 0.793650793650794 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCCCTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 1668 310 0.998784745033111 0.993636998208751 0.996210871620931 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.122064117450468 0.0493430847213508 0.97237224963238 0.910507270535021 NA 0.0857036010859095 NA FALSE NA 0.999 0.789 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 rs578022477 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GTG T,G 8.236e-06 19:16436950 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 1.845662 0.90213 0.726 0.730579 0.887689620949923 0 0.970002535208416 TRUE 8.12889e-06 ENSE00000686671_009 ENSE00000686671 009 19 16547700 16547869 - 48 63 59 A C 16547774 1434 96 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCGCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436962 16436963 16436963 exon -27 0.587301587301587 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCGCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 582 115 0.999432940444503 0.980139701382808 0.989786320913656 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.12271231286186 0.0358457878954082 0.97237224963238 0.910507270535021 NA 0.0792790503786342 NA FALSE NA 0.219 0.837 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA GAG A,C 1.647e-05 19:16436963 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 0.158734 0.58157 0.36729 0.730579 0.940299872522529 0 0.970002535208416 TRUE 8.12671e-06 ENSE00000686671_010 ENSE00000686671 010 19 16547700 16547869 - 48 63 59 C T 16547778 1435 92 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCACCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436966 16436967 16436967 exon -31 0.523809523809524 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCACCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 16 29 0.93284816250039 0.85 0.891424081250195 NA NA NA NA NA 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.034922298229831 -0.126974038534539 NA NA 0.97237224963238 0.910507270535021 -0.0809481683821852 NA NA NA FALSE 0 -3.516 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16436967 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 synonymous_variant 2.305548 0.71953 0.08506 0.730579 0.857024917269311 0 0.970002535208416 TRUE 0.0472961 ENSE00000686671_011 ENSE00000686671 011 19 16547700 16547869 - 48 63 59 C A 16547778 1436 92 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCTCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436966 16436967 16436967 exon -31 0.523809523809524 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCTCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 588 523 0.989820146214808 0.972680869436005 0.981250507825407 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.113099518632165 0.0283869559486054 0.97237224963238 0.910507270535021 NA 0.0707432372903852 NA FALSE NA 0 -3.516 NA NA NA EPS15L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPS15L1 NA NA NA ENSG00000127527 ENSE00003647888 synonymous_variant 2.421374 0.71308 0.10849 0.730579 0.835896645542635 0 0.970002535208416 TRUE 8.13068e-06 ENSE00000686671_012 ENSE00000686671 012 19 16547700 16547869 - 48 63 59 G A 16547779 1437 91 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACTGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436967 16436968 16436968 exon -32 0.507936507936508 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACTGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 389 95 0.194050846409396 0.0599358110582044 0.1269933287338 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA -0.682669781173247 -0.884358102429195 0.97237224963238 0.910507270535021 NA -0.783513941801221 NA TRUE NA 0.962 1.819 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 rs553724318 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 1.647e-05 19:16436968 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 2.411581 0.85148 0.77597 0.730579 0.892159114197358 0 0.970002535208416 TRUE 1.21896e-05 ENSE00000686671_013 ENSE00000686671 013 19 16547700 16547869 - 48 63 59 C T 16547787 1438 83 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATAGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436975 16436976 16436976 exon 24 0.380952380952381 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATAGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 242 371 0.85 0.85 0.85 144 44 0.805403826263807 0.80571386299366 0.805558844628733 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.117770460730221 -0.126974038534539 -0.0713168013188361 -0.13858005049374 0.97237224963238 0.910507270535021 -0.12237224963238 -0.104948425906288 0.017423823726092 FALSE FALSE 0.732 1.9 rs139341545 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 rs139341545 1 NA T:0.0005 T:0 CCA C,T 2.471e-05 19:16436976 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 2.816253 0.93481 0.79736 0.730579 0.976879768671578 0 0.970002535208416 TRUE 1.21911e-05 ENSE00000686671_014 ENSE00000686671 014 19 16547700 16547869 - 48 63 59 A T 16547788 1439 82 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGAAGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436976 16436977 16436977 exon 23 0.365079365079365 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGAAGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 355 2180 0.981866817121547 0.997080248521097 0.989473532821322 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.105146189538904 0.0527863350336969 0.97237224963238 0.910507270535021 NA 0.0789662622863005 NA FALSE NA 0.873 4.061 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA CAT A,T 8.236e-06 19:16436977 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 2.482302 0.92213 0.8221 0.730579 0.907307229450102 0 0.970002535208416 TRUE 4.06329e-06 ENSE00000686671_015 ENSE00000686671 015 19 16547700 16547869 - 48 63 59 T C 16547789 1440 81 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGGTGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436977 16436978 16436978 exon 22 0.349206349206349 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGGTGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 123 53 0 0 0 1237 699 0.0238585924852063 0.0304623950097132 0.0271604937474598 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.967770460730221 -0.976974038534539 -0.852862035097437 -0.913831518477687 0.97237224963238 0.910507270535021 -0.97237224963238 -0.883346776787562 0.0890254728448185 TRUE TRUE 0.654 1.027 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA ATC T,C 1.647e-05 19:16436978 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 1.399912 0.91766 0.59392 0.730579 0.939483100605505 0 0.970002535208416 TRUE 8.12698e-06 ENSE00000686671_016 ENSE00000686671 016 19 16547700 16547869 - 48 63 59 C T 16547790 1441 80 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTAATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436978 16436979 16436979 exon 21 0.333333333333333 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTAATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 202 229 0.85 0.85 0.85 NA NA NA NA NA 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.117770460730221 -0.126974038534539 NA NA 0.97237224963238 0.910507270535021 -0.12237224963238 NA NA NA FALSE 0.021 -0.541 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA TCA C,T 8.236e-06 19:16436979 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 synonymous_variant 1.289662 0.88352 0.2018 0.730579 0.843362863126929 0 0.970002535208416 TRUE 2.03179e-05 ENSE00000686671_017 ENSE00000686671 017 19 16547700 16547869 - 48 63 59 G A 16547792 1442 78 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTTTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436980 16436981 16436981 exon 19 0.301587301587302 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTTTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 291 180 0.970604811240005 0.988178814553538 0.979391812896772 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.0938841836573622 0.0438849010661384 0.97237224963238 0.910507270535021 NA 0.0688845423617503 NA FALSE NA 0.001 0.032 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 rs202167953 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGA G,A 8.236e-06 19:16436981 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 synonymous_variant 1.217808 0.35761 0.08853 0.730579 0.799854230413534 0 0.970002535208416 TRUE 4.06382e-06 ENSE00000686671_018 ENSE00000686671 018 19 16547700 16547869 - 48 63 59 G T 16547802 1443 68 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACAAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436990 16436991 16436991 exon 9 0.142857142857143 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACAAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 19 18 0.984278877060772 0.987914644802093 0.986096760931433 1473 866 0.991034258331988 0.985717578765449 0.988375918548718 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 0.0165084163305514 0.010940606267554 0.114313630749345 0.041423665278049 0.97237224963238 0.910507270535021 0.0137245112990527 0.077868648013697 0.0641441367146443 FALSE FALSE 1 0.872 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA TGG G,T 8.236e-06 19:16436991 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 synonymous_variant 0.571578 0.91308 0.736 0.732398 0.84137605253405 0 0.970002535208416 TRUE 4.06527e-06 ENSE00000686671_019 ENSE00000686671 019 19 16547700 16547869 - 48 63 59 T C 16547804 1444 66 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACGCCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436992 16436993 16436993 exon 7 0.111111111111111 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACGCCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 26 628 1 1 1 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.123279372417357 0.0557060865126001 0.97237224963238 0.910507270535021 NA 0.0894927294649785 NA FALSE NA 1 4.019 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA GTG T,C 8.236e-06 19:16436993 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 missense_variant 1.888022 0.93976 0.90948 0.732398 0.974869295910918 0 0.970002535208416 TRUE 4.06511e-06 ENSE00000686671_020 ENSE00000686671 020 19 16547700 16547869 - 48 63 59 G A 16547808 1445 62 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCATGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16436996 16436997 16436997 exon 3 0.0476190476190476 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCATGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 33 38 0.85 0.97270506258724 0.91135253129362 654 1050 0.969285663128994 0.968201660929969 0.968743662029482 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.117770460730221 -0.00426897594729903 0.0925650355463509 0.0239077474425695 0.97237224963238 0.910507270535021 -0.06101971833876 0.0582363914944602 0.11925610983322 FALSE FALSE 0 -2.073 rs149910805 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 rs149910805 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0009 A:0 CGT G,A 9.884e-05 19:16436997 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 splice_region_variant 1.157872 0.63395 0.06892 0.732398 0.855252324978891 0 0.970002535208416 TRUE 7.31933e-05 ENSE00000686671_021 ENSE00000686671 021 19 16547700 16547869 - 48 63 59 G C 16547822 1446 48 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTGTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16437010 16437011 16437011 upstr_intron -12 -0.186440677966102 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTGTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 65 172 0.877118331600541 0.85 0.86355916580027 298 363 0.949635032954046 0.952034332725032 0.950834682839539 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.0906521291296802 -0.126974038534539 0.0729144053714033 0.00774041923763191 0.97237224963238 0.910507270535021 -0.10881308383211 0.0403274123045176 0.149140496136627 FALSE FALSE 0 -2.948 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16437011 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 3_prime_UTR_variant 0.572685 0.21158 0.04651 0.088506 0.724861598808824 0.397364 0.970002535208416 TRUE 9.36109e-05 ENSE00000686671_022 ENSE00000686671 022 19 16547700 16547869 - 48 63 59 G A 16547822 1447 48 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTTTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16437010 16437011 16437011 upstr_intron -12 -0.186440677966102 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTTTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 13 20 1 0.999440369841982 0.999720184920991 59 202 0.99859655701134 1 0.99929827850567 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 0.0322295392697792 0.0224663313074429 0.121875929428697 0.0557060865126001 0.97237224963238 0.910507270535021 0.0273479352886111 0.0887910079706484 0.0614430726820373 FALSE FALSE 0 -2.948 NA NA NA EPS15L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPS15L1 NA NA NA ENSG00000127527 ENSE00003647888 3_prime_UTR_variant 0.866792 0.20045 0.03907 0.088506 0.823405340253411 0.397364 0.970002535208416 TRUE 8.14007e-06 ENSE00000686671_023 ENSE00000686671 023 19 16547700 16547869 - 48 63 59 G C 16547824 1448 46 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTGTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16437012 16437013 16437013 upstr_intron -14 -0.220338983050847 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTGTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 74 70 0.842557182576394 0.85 0.846278591288197 156 480 0.950776686904139 0.934099860836206 0.942438273870172 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.125213278153826 -0.126974038534539 0.0740560593214957 -0.0101940526511937 0.97237224963238 0.910507270535021 -0.126093658344183 0.031931003335151 0.158024661679334 FALSE FALSE 0.002 0.163 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 rs376501101 1 NA C:0 C:0.0001 AGA G,C 1.647e-05 19:16437013 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 3_prime_UTR_variant 0.68604 0.30322 0.04798 0.088506 0.677951324944287 0.391251 0.970002535208416 TRUE 1.62868e-05 ENSE00000686671_024 ENSE00000686671 024 19 16547700 16547869 - 48 63 59 C A 16547832 1449 38 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGTAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16437020 16437021 16437021 upstr_intron -22 -0.355932203389831 CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGTAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 1306 131 0.99577329674232 0.998790804633706 0.997282050688012 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.119052669159676 0.0544968911463056 0.97237224963238 0.910507270535021 NA 0.0867747801529911 NA FALSE NA 0 -0.144 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA TCC C,A 8.236e-06 19:16437021 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 3_prime_UTR_variant 1.105766 0.18827 0.11425 0.088506 0.878971967829194 0.239913 0.970002535208416 TRUE 8.15441e-06 ENSE00000686671_025 ENSE00000686671 025 19 16547700 16547869 - 48 63 59 G A 16547837 1450 33 CACCCACCTATGATTTAATTCTGTGCCAGCCATAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16437025 16437026 16437026 upstr_intron -27 -0.440677966101695 CACCCACCTATGATTTAATTCTGTGCCAGCCATAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 110 269 0.999625276803376 1 0.999812638401688 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.122904649220733 0.0557060865126001 0.97237224963238 0.910507270535021 NA 0.0893053678666665 NA FALSE NA 0 -0.285 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 rs369286988 1 NA A:0 A:0.0001 TGT G,A 8.236e-06 19:16437026 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 3_prime_UTR_variant 1.085294 0.15589 0.01646 0.088506 0.841761291752024 0.239913 0.970002535208416 TRUE 4.08037e-06 ENSE00000686671_026 ENSE00000686671 026 19 16547700 16547869 - 48 63 59 G A 16547840 1451 30 CACCCACCTATGATTTAATTCTGTGCCAGTCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16437028 16437029 16437029 upstr_intron -30 -0.491525423728814 CACCCACCTATGATTTAATTCTGTGCCAGTCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant NA NA NA NA NA 18 2939 1 0.99813667383906 0.99906833691953 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 NA NA 0.123279372417357 0.0538427603516599 0.97237224963238 0.910507270535021 NA 0.0885610663845084 NA FALSE NA 0.003 0.35 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA GGC G,A 8.236e-06 19:16437029 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 3_prime_UTR_variant 1.071371 0.15163 0.04485 0.088506 0.84465004096339 0.239913 0.970002535208416 TRUE 4.0855e-06 ENSE00000686671_028 ENSE00000686671 028 19 16547700 16547869 - 48 63 59 A C 16547848 1453 22 CACCCACCTATGATTTAATTCGGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 16437036 16437037 16437037 upstr_intron -38 -0.627118644067797 CACCCACCTATGATTTAATTCGGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT mutant 15 12 0.980593857915195 0.99324116913425 0.986917513524723 1483 1702 0.99491437486468 0.986639390237493 0.990776882551087 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 0.0128233971849747 0.0162671305997103 0.118193747282037 0.042345476750093 0.97237224963238 0.910507270535021 0.0145452638923425 0.0802696120160652 0.0657243481237227 FALSE FALSE 0 -0.355 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 6/8 1 NA CAG A,C 1.647e-05 19:16437037 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003647888 3_prime_UTR_variant -0.309814 0.13237 0.03388 0.088506 0.684186819122402 0.115564 0.970002535208416 TRUE 1.6488e-05 ENSE00000686671_BRK ENSE00000686671 BRK 19 16547700 16547869 - 48 63 59 A,G; T,T NA NA NA CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCTTCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGCCAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT 16436888 16437058 NA NA NA NA NA NA CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCTTCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGCCAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT CACCCACCTATGATTTAATTCTGTGCCAGCCACAAAGGAATGTTTCTCTCTCTTCTCAGCACGACACCAGCAGCCCTCTGATGGTCACACCGCCCTCTGCAGAGGCCCACTGGGCTGTGAGGGTAAGTGAACGGGAATAGCTCCCTCCTTGGCTCTCCTTCAGATAGAAT control 42 80 0 0.0412433235058689 0.0206216617529345 437 322 0 0 0 0.967770460730221 0.976974038534539 0.876720627582643 0.9442939134874 -0.967770460730221 -0.93573071502867 -0.876720627582643 -0.9442939134874 0.97237224963238 0.910507270535021 -0.951750587879446 -0.910507270535021 0.0412433173444242 TRUE TRUE NA NA NA NA NA EPS15L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPS15L1 NA NA NA ENSG00000127527 ENSE00003647888 NA NA NA NA NA NA NA 0.970002535208416 TRUE NA ENSE00000686701_000 ENSE00000686701 000 6 17463176 17463345 + 51 78 41 NA NA NA NA NA CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 NA NA NA NA NA NA CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC natural 119 198 0.995193493939522 0.999731569899005 0.997462531919264 7004 3540 0.972403633064338 0.987320186180275 0.979861909622306 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 0 0 0 0 0.997462531919264 0.979861909622306 0 0 0 FALSE FALSE NA NA NA NA NA CAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAP2 NA NA NA ENSG00000112186 ENSE00000686701 NA NA NA NA NA NA NA 0.410487087790501 FALSE NA ENSE00000686701_001 ENSE00000686701 001 6 17463176 17463345 + 51 78 41 G C 17463186 130 11 CAATTTTTAGCAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17462954 17462955 17462955 upstr_intron -41 -0.784313725490196 CAATTTTTAGCAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 120 1326 1 0.999741277493028 0.999870638746514 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0275963669356617 0.0124210913127529 0.997462531919264 0.979861909622306 NA 0.0200087291242073 NA FALSE NA 0 -0.582 rs80207475 intron_variant MODIFIER CAP2 HGNC 20039 ENST00000465994 3/10 rs80207475 1 C:0.0036 C:0 C:0.0086 NA C:0 C:0.0109 C:0.001 C:0.002 C:0.0091 GGA G,C 0.005609 6:17462955 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 intron_variant -0.165778 0.1852 0.02582 0.053691 0.586951816305593 0.046323 0.410487087790501 FALSE 0.00579382 ENSE00000686701_003 ENSE00000686701 003 6 17463176 17463345 + 51 78 41 C T 17463213 132 38 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCTTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17462981 17462982 17462982 upstr_intron -14 -0.254901960784314 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCTTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 44 50 1 0.999235213372237 0.999617606686118 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0275963669356617 0.0119150271919619 0.997462531919264 0.979861909622306 NA 0.0197556970638118 NA FALSE NA 0 -1.018 . intron_variant MODIFIER CAP2 HGNC 20039 ENST00000465994 3/10 1 NA CCT C,T 8.236e-06 6:17462982 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 intron_variant 2.251777 0.14856 0.01074 0.053691 0.814712388271446 0.131045 0.410487087790501 FALSE NA ENSE00000686701_005 ENSE00000686701 005 6 17463176 17463345 + 51 78 41 A G 17463242 134 67 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACGGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463010 17463011 17463011 exon 16 0.205128205128205 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACGGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 76 282 1 1 1 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0275963669356617 0.0126798138197253 0.997462531919264 0.979861909622306 NA 0.0201380903776935 NA FALSE NA 0.939 2.659 . missense_variant MODERATE CAP2 HGNC 20039 ENST00000465994 4/11 COSM1076257 1 tolerated(0.3) benign(0) NA CAG A,G 8.236e-06 6:17463011 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 missense_variant 1.593284 0.963 0.57349 0.638212 0.99050969259872 0 0.410487087790501 FALSE 3.24889e-05 ENSE00000686701_006 ENSE00000686701 006 6 17463176 17463345 + 51 78 41 C A 17463260 135 85 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGAGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463028 17463029 17463029 exon 34 0.435897435897436 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGAGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 74 923 0.946223414883163 0.96986422755032 0.958043821216741 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA -0.0261802181811752 -0.0174559586299547 0.997462531919264 0.979861909622306 NA -0.021818088405565 NA FALSE NA 1 1.133 . synonymous_variant LOW CAP2 HGNC 20039 ENST00000465994 4/11 1 NA GCG C,A 1.647e-05 6:17463029 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 synonymous_variant 3.161813 0.95862 0.54059 0.638212 0.621269917687668 0 0.410487087790501 FALSE 1.62438e-05 ENSE00000686701_007 ENSE00000686701 007 6 17463176 17463345 + 51 78 41 G T 17463263 136 88 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGTCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463031 17463032 17463032 exon 37 0.474358974358974 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGTCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 303 190 1 0.989638856104571 0.994819428052285 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0275963669356617 0.00231866992429608 0.997462531919264 0.979861909622306 NA 0.0149575184299789 NA FALSE NA 1 1.473 rs146348579 missense_variant MODERATE CAP2 HGNC 20039 ENST00000465994 4/11 rs146348579 1 tolerated(0.61) benign(0.001) NA T:0 T:0.0001 GGC G,T 8.236e-06 6:17463032 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 missense_variant 0.703464 0.96282 0.69477 0.638212 0.778401114503231 0 0.410487087790501 FALSE 4.06098e-06 ENSE00000686701_008 ENSE00000686701 008 6 17463176 17463345 + 51 78 41 A T 17463275 137 100 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGTTGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463043 17463044 17463044 exon -30 0.628205128205128 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGTTGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 1087 2096 0.995148093844253 0.940189632308309 0.967668863076281 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0227444607799145 -0.0471305538719655 0.997462531919264 0.979861909622306 NA -0.0121930465460255 NA FALSE NA 0.998 1.365 . missense_variant MODERATE CAP2 HGNC 20039 ENST00000465994 4/11 rs536085484 1 tolerated(0.94) benign(0) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GAT A,T 8.236e-06 6:17463044 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 missense_variant 0.409224 0.93296 0.46317 0.638212 0.740826988163803 0 0.410487087790501 FALSE 4.06114e-06 ENSE00000686701_009 ENSE00000686701 009 6 17463176 17463345 + 51 78 41 A G 17463292 138 117 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAGCAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463060 17463061 17463061 exon -13 0.846153846153846 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAGCAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 124 467 0.992461985910273 0.998933515714981 0.995697750812627 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0200583528459347 0.0116133295347067 0.997462531919264 0.979861909622306 NA 0.0158358411903207 NA FALSE NA 1 1.072 . synonymous_variant LOW CAP2 HGNC 20039 ENST00000465994 4/11 rs369966020 1 NA G:0 G:0.0001 AAC A,G 8.236e-06 6:17463061 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 synonymous_variant 0.461725 0.95504 0.61603 0.638212 0.529318650399042 0 0.410487087790501 FALSE 8.124e-06 ENSE00000686701_011 ENSE00000686701 011 6 17463176 17463345 + 51 78 41 C T 17463301 140 126 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCATGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463069 17463070 17463070 exon -4 0.961538461538462 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCATGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 224 415 0.982458452140057 1 0.991229226070029 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.010054819075719 0.0126798138197253 0.997462531919264 0.979861909622306 NA 0.0113673164477222 NA FALSE NA 0.991 0.275 . synonymous_variant LOW CAP2 HGNC 20039 ENST00000465994 4/11 1 NA ACG C,T 3.295e-05 6:17463070 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 synonymous_variant 1.980596 0.95514 0.51785 0.638212 0.676301264481436 0 0.410487087790501 FALSE 3.25029e-05 ENSE00000686701_014 ENSE00000686701 014 6 17463176 17463345 + 51 78 41 G C 17463311 143 136 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGACAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463079 17463080 17463080 downstr_intron 7 1.175 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGACAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 350 493 0.992023297309268 1 0.996011648654634 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0196196642449292 0.0126798138197253 0.997462531919264 0.979861909622306 NA 0.0161497390323272 NA FALSE NA 0 -0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:17463080 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 splice_region_variant -0.346505 0.16139 0.02245 0.053691 0.532058762816252 0.0950462 0.410487087790501 FALSE 9.35324e-05 ENSE00000686701_015 ENSE00000686701 015 6 17463176 17463345 + 51 78 41 G T 17463311 144 136 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGATAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463079 17463080 17463080 downstr_intron 7 1.175 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGATAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 397 1214 0.994863437558702 0.998253141008891 0.996558289283797 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0224598044943637 0.0109329548286162 0.997462531919264 0.979861909622306 NA 0.01669637966149 NA FALSE NA 0 -0.012 NA NA NA CAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAP2 NA NA NA ENSG00000112186 ENSE00000686701 splice_region_variant -0.19242 0.16135 0.02149 0.053691 0.547175064019529 0.0950462 0.410487087790501 FALSE 4.06663e-06 ENSE00000686701_017 ENSE00000686701 017 6 17463176 17463345 + 51 78 41 G A 17463324 146 149 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAAGGAAGGTGTCCCAGGGTATGC 17462944 17463114 17463092 17463093 17463093 downstr_intron 20 1.5 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAAGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 1704 638 0.961433203528079 0.964322094756262 0.962877649142171 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA -0.010970429536259 -0.0229980914240123 0.997462531919264 0.979861909622306 NA -0.0169842604801357 NA FALSE NA 0 -0.332 . intron_variant MODIFIER CAP2 HGNC 20039 ENST00000465994 4/10 1 NA AGG G,A 8.237e-06 6:17463093 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 intron_variant 0.061427 0.16203 0.01477 0.053691 0.311660886888178 0.046323 0.410487087790501 FALSE 4.0776e-06 ENSE00000686701_018 ENSE00000686701 018 6 17463176 17463345 + 51 78 41 G A 17463329 147 154 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAAGTGTCCCAGGGTATGC 17462944 17463114 17463097 17463098 17463098 downstr_intron 25 1.625 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAAGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 182 1191 0.996324967752804 0.97529015391103 0.985807560831917 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0239213346884652 -0.0120300322692445 0.997462531919264 0.979861909622306 NA 0.00594565120961038 NA FALSE NA 0 0.089 . intron_variant MODIFIER CAP2 HGNC 20039 ENST00000465994 4/10 1 NA AGG G,A 8.237e-06 6:17463098 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 intron_variant 0.11092 0.11922 0.00476 0.053691 0.524597977841915 0.046323 0.410487087790501 FALSE 4.09072e-06 ENSE00000686701_019 ENSE00000686701 019 6 17463176 17463345 + 51 78 41 G T 17463332 148 157 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTTTCCCAGGGTATGC 17462944 17463114 17463100 17463101 17463101 downstr_intron 28 1.7 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTTTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 621 1247 0.988959694227027 0.988867210659835 0.988913452443431 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0165560611626889 0.00154702447956068 0.997462531919264 0.979861909622306 NA 0.0090515428211248 NA FALSE NA 0 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:17463101 CAP2 HGNC Symbol protein_coding 164576 ENSG00000112186 ENSE00000686701 intron_variant -0.287233 0.07018 0.00032 0.053691 0.519700057981653 0.046323 0.410487087790501 FALSE 1.63654e-05 ENSE00000686701_020 ENSE00000686701 020 6 17463176 17463345 + 51 78 41 G A 17463332 149 157 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTATCCCAGGGTATGC 17462944 17463114 17463100 17463101 17463101 downstr_intron 28 1.7 CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTATCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC mutant NA NA NA NA NA 642 848 0.996755577750117 0.996608320880895 0.996681949315506 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 NA NA 0.0243519446857784 0.00928813470062051 0.997462531919264 0.979861909622306 NA 0.0168200396931995 NA FALSE NA 0 0.522 NA NA NA CAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAP2 NA NA NA ENSG00000112186 ENSE00000686701 intron_variant -0.053306 0.14615 0.03537 0.053691 0.546410148787612 0.046323 0.410487087790501 FALSE 2.45481e-05 ENSE00000686701_BRK ENSE00000686701 BRK 6 17463176 17463345 + 51 78 41 A,G; T,T NA NA NA CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCTTGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGCCAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC 17462944 17463114 NA NA NA NA NA NA CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCTTGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGCCAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC CAATTTTTAGGAGTCAAACATTGAAACTGCCATCTTCCTCTTTGTTCCCAGGCAGAAATGGTGCACAGTGCTTTCCAGGCCCAGCGGGCTTTCCTTCTGATGGCCTCTCAGTACCAACAACCCCACGAGGTAAGAGAGTGTCCTGAGAGGGAAGGTGTCCCAGGGTATGC control 314 144 0 0 0 112 372 0 0.00086079412124833 0.000430397060624165 0.995193493939522 0.999731569899005 0.972403633064338 0.987320186180275 -0.995193493939522 -0.999731569899005 -0.972403633064338 -0.986459392059026 0.997462531919264 0.979861909622306 -0.997462531919264 -0.979431512561682 0.0180310193575812 TRUE TRUE NA NA NA NA NA CAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAP2 NA NA NA ENSG00000112186 ENSE00000686701 NA NA NA NA NA NA NA 0.410487087790501 FALSE NA ENSE00000687295_000 ENSE00000687295 000 13 113213595 113213764 - 41 78 51 NA NA NA NA NA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 NA NA NA NA NA NA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA natural 53 40 0.999160412231074 0.997604724172805 0.99838256820194 2306 4610 0.890799125401127 0.762101850430691 0.826450487915909 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 0 0 0 0 0.99838256820194 0.826450487915909 0 0 0 FALSE FALSE NA NA NA NA NA TUBGCP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUBGCP3 NA NA NA ENSG00000126216 ENSE00003596362 NA NA NA NA NA NA NA 0.952526133875611 TRUE NA ENSE00000687295_001 ENSE00000687295 001 13 113213595 113213764 - 41 78 51 G T 113213605 695 160 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTACGTCGGGACA 112559280 112559450 112559290 112559291 112559291 downstr_intron 31 1.775 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTACGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 71 112 1 0.981050641649955 0.990525320824977 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.218948791219264 0.99838256820194 0.826450487915909 NA 0.164074832909068 NA FALSE NA 0.001 0.286 rs3818462 intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 4/21 rs3818462 1 T:0.1256 T:0.0802 T:0.1196 NA T:0.1786 T:0.1769 T:0.0838 T:0.1003 T:0.2052 GGA G,T 0.168 13:112559291 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant 0.022515 0.17826 0.03322 0.235255 0.74702979925138 0.0548906 0.952526133875611 TRUE 0.164488 ENSE00000687295_002 ENSE00000687295 002 13 113213595 113213764 - 41 78 51 G A 113213610 696 155 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTTGTGTCCGTCGGGACA 112559280 112559450 112559295 112559296 112559296 downstr_intron 26 1.65 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTTGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 141 36 1 1 1 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.237898149569309 0.99838256820194 0.826450487915909 NA 0.173549512084091 NA FALSE NA 0 -1.513 . intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 4/21 1 NA CGA G,A 8.236e-06 13:112559296 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant -0.251916 0.07197 0.018 0.295142 0.666988777381574 0.0548906 0.952526133875611 TRUE 1.28641e-05 ENSE00000687295_004 ENSE00000687295 004 13 113213595 113213764 - 41 78 51 C T 113213612 698 153 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCATCGTGTCCGTCGGGACA 112559280 112559450 112559297 112559298 112559298 downstr_intron 24 1.6 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCATCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 842 502 1 0.998546467829354 0.999273233914677 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.236444617398663 0.99838256820194 0.826450487915909 NA 0.172822745998768 NA FALSE NA 0.001 0.012 . intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 4/21 1 NA ACG C,T 8.236e-06 13:112559298 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant -0.455916 0.0412 0.01414 0.295142 0.658006867604723 0.0543419 0.952526133875611 TRUE 1.27212e-05 ENSE00000687295_005 ENSE00000687295 005 13 113213595 113213764 - 41 78 51 C T 113213614 699 151 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAACGTCGTGTCCGTCGGGACA 112559280 112559450 112559299 112559300 112559300 downstr_intron 22 1.55 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAACGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 842 607 0.91239617190761 0.982676330698145 0.947536251302877 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.0215970465064824 0.220574480267454 0.99838256820194 0.826450487915909 NA 0.121085763386968 NA FALSE NA 0 -1.266 . intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 4/21 1 NA GCT C,T 8.236e-06 13:112559300 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant -0.267288 0.06491 0.00312 0.295142 0.732756576201734 0.0543419 0.952526133875611 TRUE 8.38413e-06 ENSE00000687295_006 ENSE00000687295 006 13 113213595 113213764 - 41 78 51 T C 113213650 700 115 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCGGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559335 112559336 112559336 exon -15 0.82051282051282 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCGGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 659 50 0.994070103119014 0.954607414799392 0.974338758959203 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.103270977717887 0.192505564368701 0.99838256820194 0.826450487915909 NA 0.147888271043294 NA FALSE NA 1 6.773 . missense_variant MODERATE TUBGCP3 HGNC 18598 ENST00000261965 4/22 1 tolerated(0.06) benign(0.007) NA CTG T,C 8.236e-06 13:112559336 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 missense_variant 3.311612 0.96237 0.96394 0.732398 0.996387427638977 0 0.952526133875611 TRUE 2.04238e-05 ENSE00000687295_007 ENSE00000687295 007 13 113213595 113213764 - 41 78 51 G C 113213651 701 114 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGGAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559336 112559337 112559337 exon -16 0.807692307692308 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGGAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 228 317 1 0.996063396975305 0.998031698487652 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.233961546544614 0.99838256820194 0.826450487915909 NA 0.171581210571743 NA FALSE NA 0.999 0.483 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 13:112559337 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 synonymous_variant 0.798108 0.90027 0.66137 0.730579 0.685536792937661 0 0.952526133875611 TRUE 4.0836e-06 ENSE00000687295_008 ENSE00000687295 008 13 113213595 113213764 - 41 78 51 G A 113213651 702 114 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGTAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559336 112559337 112559337 exon -16 0.807692307692308 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGTAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 836 174 0.998627915329176 1 0.999313957664588 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.107828789928049 0.237898149569309 0.99838256820194 0.826450487915909 NA 0.172863469748679 NA FALSE NA 0.999 0.483 NA NA NA TUBGCP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUBGCP3 NA NA NA ENSG00000126216 ENSE00003596362 synonymous_variant 1.132161 0.89637 0.53358 0.730579 0.844515808320876 0 0.952526133875611 TRUE 4.0836e-06 ENSE00000687295_009 ENSE00000687295 009 13 113213595 113213764 - 41 78 51 C A 113213652 703 113 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACTCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559337 112559338 112559338 exon -17 0.794871794871795 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACTCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 1041 1220 0.991332943459815 0.997366608545099 0.994349776002457 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.100533818058688 0.235264758114408 0.99838256820194 0.826450487915909 NA 0.167899288086548 NA FALSE NA 1 6.588 . missense_variant MODERATE TUBGCP3 HGNC 18598 ENST00000261965 4/22 rs372753699&COSM273431 1 tolerated(0.06) benign(0.079) NA A:0 A:0.0001 GCG C,A 8.236e-06 13:112559338 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 missense_variant 4.725275 0.97042 0.96694 0.730579 0.9980264967319 0 0.952526133875611 TRUE 8.17194e-06 ENSE00000687295_010 ENSE00000687295 010 13 113213595 113213764 - 41 78 51 G A 113213653 704 112 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCATGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559338 112559339 112559339 exon -18 0.782051282051282 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCATGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant 25 12 0.973340628344062 0.959430016175714 0.966385322259888 554 385 0.996663880303315 0.994873400792991 0.995768640548153 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 -0.025819783887012 -0.0381747079970909 0.105864754902188 0.232771550362301 0.99838256820194 0.826450487915909 -0.0319972459420514 0.169318152632244 0.201315398574296 FALSE FALSE 1 6.177 . missense_variant MODERATE TUBGCP3 HGNC 18598 ENST00000261965 4/22 rs375434522 1 deleterious(0.01) possibly_damaging(0.582) NA CGT G,A 2.471e-05 13:112559339 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 missense_variant 6.975883 0.94278 0.93637 0.730579 0.999292604645902 0 0.952526133875611 TRUE 3.26768e-05 ENSE00000687295_011 ENSE00000687295 011 13 113213595 113213764 - 41 78 51 C A 113213664 705 101 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCATTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559349 112559350 112559350 exon -29 0.641025641025641 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCATTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 218 153 1 1 1 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.237898149569309 0.99838256820194 0.826450487915909 NA 0.173549512084091 NA FALSE NA 1 5.023 . missense_variant MODERATE TUBGCP3 HGNC 18598 ENST00000261965 4/22 1 deleterious(0) benign(0.365) NA ACT C,A 8.236e-06 13:112559350 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 missense_variant 5.557005 0.95488 0.87381 0.730579 0.996405892066215 0 0.952526133875611 TRUE 4.08824e-06 ENSE00000687295_012 ENSE00000687295 012 13 113213595 113213764 - 41 78 51 G A 113213691 706 74 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTTAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559376 112559377 112559377 exon 23 0.294871794871795 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTTAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 78 226 1 1 1 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.237898149569309 0.99838256820194 0.826450487915909 NA 0.173549512084091 NA FALSE NA 1 8.337 . missense_variant MODERATE TUBGCP3 HGNC 18598 ENST00000261965 4/22 1 deleterious(0.01) benign(0.01) NA TGA G,A 8.237e-06 13:112559377 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 missense_variant 5.046395 0.97008 0.94987 0.730579 0.999060925078184 0 0.952526133875611 TRUE NA ENSE00000687295_014 ENSE00000687295 014 13 113213595 113213764 - 41 78 51 G A 113213716 708 49 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAATAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559401 112559402 112559402 upstr_intron -3 -0.0392156862745098 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAATAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 49 59 1 1 1 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.237898149569309 0.99838256820194 0.826450487915909 NA 0.173549512084091 NA FALSE NA 1 4.079 . splice_region_variant&intron_variant LOW TUBGCP3 HGNC 18598 ENST00000261965 3/21 rs376558395 1 NA A:0.0002 A:0 TGT G,A 2.471e-05 13:112559402 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 splice_region_variant 1.787335 0.95437 0.822 0.101703 0.927135634761009 0.872053 0.952526133875611 TRUE 1.24904e-05 ENSE00000687295_015 ENSE00000687295 015 13 113213595 113213764 - 41 78 51 T A 113213718 709 47 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCATACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559403 112559404 112559404 upstr_intron -5 -0.0784313725490196 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCATACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 590 4451 0.996540733287825 0.995396323810857 0.995968528549341 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.105741607886697 0.233294473380166 0.99838256820194 0.826450487915909 NA 0.169518040633432 NA FALSE NA 0.098 0.504 . splice_region_variant&intron_variant LOW TUBGCP3 HGNC 18598 ENST00000261965 3/21 1 NA TTT T,A 8.237e-06 13:112559404 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 splice_region_variant 0.322841 0.30241 0.11641 0.108992 0.740781732036623 0.350886 0.952526133875611 TRUE 4.15835e-06 ENSE00000687295_016 ENSE00000687295 016 13 113213595 113213764 - 41 78 51 G C 113213721 710 44 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTGCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559406 112559407 112559407 upstr_intron -8 -0.137254901960784 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTGCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 743 285 0.985603864853475 0.997819161915497 0.991711513384486 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.0948047394523478 0.235717311484806 0.99838256820194 0.826450487915909 NA 0.165261025468577 NA FALSE NA 0.956 1.777 . splice_region_variant&intron_variant LOW TUBGCP3 HGNC 18598 ENST00000261965 3/21 1 NA GGA G,C 8.237e-06 13:112559407 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 splice_region_variant -0.024697 0.29892 0.57908 0.108992 0.658382584454455 0.203096 0.952526133875611 TRUE 4.18652e-06 ENSE00000687295_017 ENSE00000687295 017 13 113213595 113213764 - 41 78 51 A C 113213722 711 43 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTGCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559407 112559408 112559408 upstr_intron -9 -0.156862745098039 CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTGCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant 105 189 0.85 0.85 0.85 NA NA NA NA NA 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 -0.149160412231074 -0.147604724172805 NA NA 0.99838256820194 0.826450487915909 -0.14838256820194 NA NA NA FALSE 0.948 1.857 . intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 3/21 rs35223826 1 NA GAA A,C 8.237e-06 13:112559408 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant 0.07155 0.24388 0.45854 0.108992 0.686132895981471 0.197072 0.952526133875611 TRUE 4.16868e-06 ENSE00000687295_018 ENSE00000687295 018 13 113213595 113213764 - 41 78 51 G A 113213741 712 24 CTGGAGAGTAGTATAAAATCGTTTTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559426 112559427 112559427 upstr_intron -28 -0.529411764705882 CTGGAGAGTAGTATAAAATCGTTTTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 377 319 1 1 1 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.237898149569309 0.99838256820194 0.826450487915909 NA 0.173549512084091 NA FALSE NA 0.118 0.461 . intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 3/21 1 NA AGA G,A 8.238e-06 13:112559427 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant 0.307565 0.21019 0.05255 0.108992 0.500796379738996 0.14835 0.952526133875611 TRUE 4.25492e-06 ENSE00000687295_019 ENSE00000687295 019 13 113213595 113213764 - 41 78 51 C T 113213744 713 21 CTGGAGAGTAGTATAAAATCATTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559429 112559430 112559430 upstr_intron -31 -0.588235294117647 CTGGAGAGTAGTATAAAATCATTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 1756 20 0.997458644096643 1 0.998729322048322 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.106659518695516 0.237898149569309 0.99838256820194 0.826450487915909 NA 0.172278834132413 NA FALSE NA 0 -1.196 . intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 3/21 1 NA ACG C,T 1.648e-05 13:112559430 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant 0.583946 0.2004 0.05468 0.108992 0.483127238189836 0.14835 0.952526133875611 TRUE 1.73637e-05 ENSE00000687295_020 ENSE00000687295 020 13 113213595 113213764 - 41 78 51 G A 113213745 714 20 CTGGAGAGTAGTATAAAATTGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559430 112559431 112559431 upstr_intron -32 -0.607843137254902 CTGGAGAGTAGTATAAAATTGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 306 205 1 0.999227740645989 0.999613870322994 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.237125890215298 0.99838256820194 0.826450487915909 NA 0.173163382407085 NA FALSE NA 0 -0.668 . intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 3/21 1 NA CGA G,A 8.239e-06 13:112559431 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant 0.281097 0.12026 0.01601 0.108992 0.258116879278704 0.14835 0.952526133875611 TRUE 8.70239e-06 ENSE00000687295_021 ENSE00000687295 021 13 113213595 113213764 - 41 78 51 A G 113213753 715 12 CTGGAGAGTAGCATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 112559438 112559439 112559439 upstr_intron -40 -0.764705882352941 CTGGAGAGTAGCATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA mutant NA NA NA NA NA 705 343 1 1 1 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 NA NA 0.109200874598873 0.237898149569309 0.99838256820194 0.826450487915909 NA 0.173549512084091 NA FALSE NA 0 -0.973 . intron_variant MODIFIER TUBGCP3 HGNC 18598 ENST00000261965 3/21 1 NA TAC A,G 1.648e-05 13:112559439 TUBGCP3 HGNC Symbol protein_coding 103162 ENSG00000126216 ENSE00003596362 intron_variant -0.23096 0.15209 0.02762 0.108992 0.340692256084546 0.123045 0.952526133875611 TRUE 9.08001e-06 ENSE00000687295_BRK ENSE00000687295 BRK 13 113213595 113213764 - 41 78 51 A,G; T,T NA NA NA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACTTGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGCCAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA 112559280 112559450 NA NA NA NA NA NA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACTTGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGCCAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA CTGGAGAGTAGTATAAAATCGTTCTTTTAATATTAACTTTTTTCCAAACAGGGAGTTTTGAAAAATAAATGGTCAATACTCTACCTCTTGCTGAGCCTCAGTGAGGACCCACGCAGGCAGCCAAGCAAGGTAAGTGGCTTTGCCTTTGCAGCGTCGTGTCCGTCGGGACA control 80 53 0 0 0 1918 2201 0.0251305517446963 0.0493428761286051 0.0372367139366507 0.999160412231074 0.997604724172805 0.890799125401127 0.762101850430691 -0.999160412231074 -0.997604724172805 -0.865668573656431 -0.712758974302086 0.99838256820194 0.826450487915909 -0.99838256820194 -0.789213773979258 0.209168794222681 TRUE TRUE NA NA NA NA NA TUBGCP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUBGCP3 NA NA NA ENSG00000126216 ENSE00003596362 NA NA NA NA NA NA NA 0.952526133875611 TRUE NA ENSE00000687635_000 ENSE00000687635 000 17 10533127 10533296 - 32 96 42 NA NA NA NA NA TGCCTGCCGCAGTCAGCACCTATCTCACTTACAGCCTCCTCCGCCTGCCTCTTGTAGGACTTGACTTTCACTTGCAGTTTATCCACCAGATCCTGCAATCTCAGCACATTCTTCCTGTCCTCTTCACTCTAAGAATGAGAAAGTGGGAATGTCACTGGAGAGGAGGGGGC 10629809 10629979 NA NA NA NA NA NA GCCCCCTCCTCTCCAGTGACATTCCCACTTTCTCATTCTTAGAGTGAAGAGGACAGGAAGAATGTGCTGAGATTGCAGGATCTGGTGGATAAACTGCAAGTGAAAGTCAAGTCCTACAAGAGGCAGGCGGAGGAGGCTGTAAGTGAGATAGGTGCTGACTGCGGCAGGCA GCCCCCTCCTCTCCAGTGACATTCCCACTTTCTCATTCTTAGAGTGAAGAGGACAGGAAGAATGTGCTGAGATTGCAGGATCTGGTGGATAAACTGCAAGTGAAAGTCAAGTCCTACAAGAGGCAGGCGGAGGAGGCTGTAAGTGAGATAGGTGCTGACTGCGGCAGGCA natural NA NA NA NA NA 653 600 0.971859692347614 0.989285052837088 0.980572372592351 NA NA 0.971859692347614 0.989285052837088 NA NA 0 0 NA 0.980572372592351 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00000687635 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00000687635_BRK ENSE00000687635 BRK 17 10533127 10533296 - 32 96 42 A,G; T,T NA NA NA TGCCTGCCGCAGTCAGCACCTATCTCACTTGGAGCCTCCTCCGCCTGCCTCTTGTAGGACTTGACTTTCACTTGCAGTTTATCCACCAGATCCTGCAATCTCAGCACATTCTTCCTGTCCTCTTCACTAAAAGAATGAGAAAGTGGGAATGTCACTGGAGAGGAGGGGGC 10629809 10629979 NA NA NA NA NA NA GCCCCCTCCTCTCCAGTGACATTCCCACTTTCTCATTCTTTTAGTGAAGAGGACAGGAAGAATGTGCTGAGATTGCAGGATCTGGTGGATAAACTGCAAGTGAAAGTCAAGTCCTACAAGAGGCAGGCGGAGGAGGCTCCAAGTGAGATAGGTGCTGACTGCGGCAGGCA GCCCCCTCCTCTCCAGTGACATTCCCACTTTCTCATTCTTAGAGTGAAGAGGACAGGAAGAATGTGCTGAGATTGCAGGATCTGGTGGATAAACTGCAAGTGAAAGTCAAGTCCTACAAGAGGCAGGCGGAGGAGGCTGTAAGTGAGATAGGTGCTGACTGCGGCAGGCA control 270 83 0 0 0 NA NA NA NA NA NA NA 0.971859692347614 0.989285052837088 NA NA NA NA NA 0.980572372592351 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00000687635 NA NA NA NA NA NA NA NA NA NA ENSE00000687910_000 ENSE00000687910 000 8 30550450 30550619 - 36 87 47 NA NA NA NA NA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 NA NA NA NA NA NA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA natural 12 10 0.516763450002072 0.640627895105853 0.578695672553963 442 221 0.96459810441517 0.95005040850086 0.957324256458015 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 0 0 0 0 0.578695672553963 0.957324256458015 0 0 0 FALSE FALSE NA NA NA NA NA GSR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GSR NA NA NA ENSG00000104687 ENSE00003532295 NA NA NA NA NA NA NA 0.012481213675682 FALSE NA ENSE00000687910_001 ENSE00000687910 001 8 30550450 30550619 - 36 87 47 G A 30550460 723 160 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCATGCGGCCCCCA 30692932 30693102 30692942 30692943 30692943 downstr_intron 26 1.74285714285714 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCATGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 47 46 0.986079937361162 1 0.993039968680581 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA 0.021481832945991 0.0499495914991402 0.578695672553963 0.957324256458015 NA 0.0357157122225656 NA FALSE NA 0 -1.018 . intron_variant MODIFIER GSR HGNC 4623 ENST00000414019 8/12 1 NA CGT G,A 8.236e-06 8:30692943 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 intron_variant -0.303178 0.05403 0.00139 0.295142 0.715615081302931 0.046323 0.012481213675682 FALSE 1.22915e-05 ENSE00000687910_002 ENSE00000687910 002 8 30550450 30550619 - 36 87 47 G A 30550466 724 154 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGTATGCACGCGGCCCCCA 30692932 30693102 30692948 30692949 30692949 downstr_intron 20 1.57142857142857 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGTATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 207 51 0.993459240301509 0.999250279754385 0.996354760027947 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA 0.0288611358863381 0.0491998712535248 0.578695672553963 0.957324256458015 NA 0.0390305035699314 NA FALSE NA 0.003 0.957 . intron_variant MODIFIER GSR HGNC 4623 ENST00000414019 8/12 1 NA TGC G,A 8.236e-06 8:30692949 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 intron_variant 0.06263 0.14289 0.06012 0.295142 0.468235856171523 0.046323 0.012481213675682 FALSE 4.09105e-06 ENSE00000687910_006 ENSE00000687910 006 8 30550450 30550619 - 36 87 47 G C 30550490 728 130 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTGCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 30692972 30692973 30692973 exon -5 0.954022988505747 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTGCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 556 513 0.979829669382065 0.997590189578685 0.988709929480375 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA 0.0152315649668944 0.0475397810778252 0.578695672553963 0.957324256458015 NA 0.0313856730223598 NA FALSE NA 1 5.533 . missense_variant MODERATE GSR HGNC 4623 ENST00000414019 8/13 COSM1699934 1 probably_damaging(0.997) NA GGA G,C 8.236e-06 8:30692973 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 missense_variant 5.602869 0.97377 0.97652 0.706548 0.986236408797467 0 0.012481213675682 FALSE 4.07674e-06 ENSE00000687910_009 ENSE00000687910 009 8 30550450 30550619 - 36 87 47 C T 30550509 731 111 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCATGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 30692991 30692992 30692992 exon -24 0.735632183908046 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCATGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 104 604 0.803094335772158 0.888770386176703 0.845932360974431 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA -0.161503768643012 -0.0612800223241571 0.578695672553963 0.957324256458015 NA -0.111391895483585 NA FALSE NA 0.258 0.332 rs145107370 missense_variant MODERATE GSR HGNC 4623 ENST00000414019 8/13 1 possibly_damaging(0.704) NA ACG C,T 4.118e-05 8:30692992 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 missense_variant 4.320766 0.26578 0.05779 0.706548 0.997533773049117 0 0.012481213675682 FALSE 5.69893e-05 ENSE00000687910_012 ENSE00000687910 012 8 30550450 30550619 - 36 87 47 C T 30550515 734 105 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACACTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 30692997 30692998 30692998 exon -30 0.666666666666667 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACACTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 1041 390 0.918443273007269 0.928208837497418 0.923326055252343 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA -0.0461548314079016 -0.0218415710034422 0.578695672553963 0.957324256458015 NA -0.0339982012056719 NA FALSE NA 0.003 0.431 . missense_variant MODERATE GSR HGNC 4623 ENST00000414019 8/13 1 benign(0.003) NA GCG C,T 8.236e-06 8:30692998 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 missense_variant 2.291824 0.26527 0.12452 0.706548 0.981015914401179 0 0.012481213675682 FALSE 2.03522e-05 ENSE00000687910_014 ENSE00000687910 014 8 30550450 30550619 - 36 87 47 C T 30550522 736 98 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTAGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 30693004 30693005 30693005 exon -37 0.586206896551724 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTAGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 376 280 0.931785788215535 0.896189633396976 0.913987710806255 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA -0.0328123161996356 -0.0538607751038842 0.578695672553963 0.957324256458015 NA -0.0433365456517599 NA FALSE NA 0.971 -0.119 . synonymous_variant LOW GSR HGNC 4623 ENST00000414019 8/13 1 NA CCA C,T 8.236e-06 8:30693005 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 synonymous_variant 1.907934 0.95516 0.67103 0.706548 0.775903419826169 0 0.012481213675682 FALSE 4.06848e-06 ENSE00000687910_016 ENSE00000687910 016 8 30550450 30550619 - 36 87 47 G A 30550532 738 88 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCATGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 30693014 30693015 30693015 exon 41 0.471264367816092 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCATGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 66 321 1 0.956925645363387 0.978462822681694 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA 0.0354018955848295 0.00687523686252745 0.578695672553963 0.957324256458015 NA 0.0211385662236785 NA FALSE NA 1 7.72 rs147574397 missense_variant MODERATE GSR HGNC 4623 ENST00000414019 8/13 rs147574397 1 probably_damaging(1) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0.0002 A:0.0001 CGT G,A 6.589e-05 8:30693015 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 missense_variant 5.06403 0.98196 0.98137 0.706548 0.998538666567512 0 0.012481213675682 FALSE 6.91794e-05 ENSE00000687910_019 ENSE00000687910 019 8 30550450 30550619 - 36 87 47 C G 30550562 741 58 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAACTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 30693044 30693045 30693045 exon 11 0.126436781609195 TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAACTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 247 33 0.8 0.8 0.8 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA -0.16459810441517 -0.15005040850086 0.578695672553963 0.957324256458015 NA -0.157324256458015 NA FALSE NA 0 -1.497 . missense_variant MODERATE GSR HGNC 4623 ENST00000414019 8/13 1 benign(0.001) NA ACT C,G 8.236e-06 8:30693045 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 missense_variant -1.821516 0.11877 0.02279 0.706548 0.45483871092276 0 0.012481213675682 FALSE 4.07146e-06 ENSE00000687910_027 ENSE00000687910 027 8 30550450 30550619 - 36 87 47 C T 30550601 749 19 TCAAGTTTTCTTCCTCTCACATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 30693083 30693084 30693084 upstr_intron -29 -0.595744680851064 TCAAGTTTTCTTCCTCTCACATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA mutant NA NA NA NA NA 38 156 1 1 1 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 NA NA 0.0354018955848295 0.0499495914991402 0.578695672553963 0.957324256458015 NA 0.0426757435419849 NA FALSE NA 0 0.069 NA NA NA GSR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:30693084 GSR HGNC Symbol protein_coding 49938 ENSG00000104687 ENSE00003532295 intron_variant -0.210639 0.14246 0.01304 0.099367 0.613807066064581 0.181776 0.012481213675682 FALSE 1.64198e-05 ENSE00000687910_BRK ENSE00000687910 BRK 8 30550450 30550619 - 36 87 47 A,G; T,T NA NA NA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCTTGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGCCACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA 30692932 30693102 NA NA NA NA NA NA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCTTGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGCCACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA TCAAGTTTTCTTCCTCTCGCATTACCCATCCCTATGTTGATATGCAGGTACTTAGAAGTTTTGATTCAATGATCAGCACCAACTGCACGGAGGAGCTGGAGAACGCTGGCGTGGAGGTGCTGAAGTTCTCCCAGGTACAGTGCCAAGCCCAGGCATGCACGCGGCCCCCA control 121 87 0 0 0 NA NA NA NA NA 0.516763450002072 0.640627895105853 0.96459810441517 0.95005040850086 -0.516763450002072 -0.640627895105853 NA NA 0.578695672553963 0.957324256458015 -0.578695672553963 NA NA NA TRUE NA NA NA NA NA GSR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GSR NA NA NA ENSG00000104687 ENSE00003532295 NA NA NA NA NA NA NA 0.012481213675682 FALSE NA ENSE00000688607_000 ENSE00000688607 000 17 12028560 12028729 + 51 78 41 NA NA NA NA NA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 NA NA NA NA NA NA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA natural NA NA NA NA NA 1541 2196 0.935070485011414 0.892839987723289 0.913955236367352 NA NA 0.935070485011414 0.892839987723289 NA NA 0 0 NA 0.913955236367352 NA 0 NA FALSE NA NA NA NA NA NA MAP2K4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAP2K4 NA NA NA ENSG00000065559 ENSE00003524523 NA NA NA NA NA NA NA 0.997002550124826 TRUE NA ENSE00000688607_003 ENSE00000688607 003 17 12028560 12028729 + 51 78 41 T G 12028584 758 25 ATTCCTTGAGTGTAAGGCAATTAAGAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 12125266 12125267 12125267 upstr_intron -27 -0.509803921568627 ATTCCTTGAGTGTAAGGCAATTAAGAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA mutant NA NA NA NA NA 61 362 1 0.983920855970378 0.991960427985189 NA NA 0.935070485011414 0.892839987723289 NA NA 0.0649295149885862 0.0910808682470885 NA 0.913955236367352 NA 0.0780051916178374 NA FALSE NA 0.729 2.687 rs150681192 intron_variant&NMD_transcript_variant MODIFIER MAP2K4 HGNC 6844 ENST00000602375 6/9 rs150681192 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 ATA T,G 8.236e-06 17:12125267 MAP2K4 HGNC Symbol protein_coding 123006 ENSG00000065559 ENSE00003524523 non_coding_transcript_exon_variant 0.395607 0.29997 0.88596 0.078448 0.612069040459726 0.0666035 0.997002550124826 TRUE 4.06223e-06 ENSE00000688607_004 ENSE00000688607 004 17 12028560 12028729 + 51 78 41 C G 12028587 759 28 ATTCCTTGAGTGTAAGGCAATTAATAAGTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 12125269 12125270 12125270 upstr_intron -24 -0.450980392156863 ATTCCTTGAGTGTAAGGCAATTAATAAGTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA mutant NA NA NA NA NA 21 756 1 0.996215632681132 0.998107816340566 NA NA 0.935070485011414 0.892839987723289 NA NA 0.0649295149885862 0.103375644957843 NA 0.913955236367352 NA 0.0841525799732147 NA FALSE NA 0.449 1.183 . intron_variant&NMD_transcript_variant MODIFIER MAP2K4 HGNC 6844 ENST00000602375 6/9 1 NA ACT C,G 1.647e-05 17:12125270 MAP2K4 HGNC Symbol protein_coding 123006 ENSG00000065559 ENSE00003524523 non_coding_transcript_exon_variant -0.027551 0.22068 0.62207 0.162113 0.602419425102914 0.0666035 0.997002550124826 TRUE 8.12513e-06 ENSE00000688607_006 ENSE00000688607 006 17 12028560 12028729 + 51 78 41 G A 12028596 761 37 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTATCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 12125278 12125279 12125279 upstr_intron -15 -0.274509803921569 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTATCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA mutant NA NA NA NA NA 153 64 1 1 1 NA NA 0.935070485011414 0.892839987723289 NA NA 0.0649295149885862 0.107160012276711 NA 0.913955236367352 NA 0.0860447636326485 NA FALSE NA 0.767 -0.243 . intron_variant&NMD_transcript_variant MODIFIER MAP2K4 HGNC 6844 ENST00000602375 6/9 1 NA TGT G,A 8.236e-06 17:12125279 MAP2K4 HGNC Symbol protein_coding 123006 ENSG00000065559 ENSE00003524523 non_coding_transcript_exon_variant 0.211982 0.96493 0.27363 0.162113 0.659803184451041 0.161318 0.997002550124826 TRUE 8.12381e-06 ENSE00000688607_007 ENSE00000688607 007 17 12028560 12028729 + 51 78 41 C T 12028598 762 39 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTTTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 12125280 12125281 12125281 upstr_intron -13 -0.235294117647059 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTTTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA mutant NA NA NA NA NA 18 83 1 1 1 NA NA 0.935070485011414 0.892839987723289 NA NA 0.0649295149885862 0.107160012276711 NA 0.913955236367352 NA 0.0860447636326485 NA FALSE NA 0.846 -0.003 . intron_variant&NMD_transcript_variant MODIFIER MAP2K4 HGNC 6844 ENST00000602375 6/9 rs567979401 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCT C,T 8.236e-06 17:12125281 MAP2K4 HGNC Symbol protein_coding 123006 ENSG00000065559 ENSE00003524523 non_coding_transcript_exon_variant 0.32263 0.96199 0.4283 0.162113 0.647129634801329 0.161318 0.997002550124826 TRUE 4.06184e-06 ENSE00000688607_008 ENSE00000688607 008 17 12028560 12028729 + 51 78 41 C T 12028631 763 72 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGTGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 12125313 12125314 12125314 exon 21 0.269230769230769 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGTGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA mutant 32 42 0.958833468868245 0.963620546855754 0.961227007862 156 29 0.994324970592863 0.93399465146177 0.964159811027316 NA NA 0.935070485011414 0.892839987723289 NA NA 0.0592544855814487 0.041154663738481 NA 0.913955236367352 NA 0.0502045746599649 NA FALSE NA 0.998 0.396 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MAP2K4 HGNC 6844 ENST00000602375 7/10 1 NA GCG C,T 3.295e-05 17:12125314 MAP2K4 HGNC Symbol protein_coding 123006 ENSG00000065559 ENSE00003524523 synonymous_variant 2.391409 0.95904 0.38636 0.706298 0.727246250197277 0 0.997002550124826 TRUE 4.06105e-05 ENSE00000688607_009 ENSE00000688607 009 17 12028560 12028729 + 51 78 41 G A 12028632 764 73 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCACATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 12125314 12125315 12125315 exon 22 0.282051282051282 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCACATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA mutant NA NA NA NA NA 504 64 0.999098332038474 0.982145630196085 0.990621981117279 NA NA 0.935070485011414 0.892839987723289 NA NA 0.0640278470270598 0.0893056424727959 NA 0.913955236367352 NA 0.0766667447499279 NA FALSE NA 1 9.565 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MAP2K4 HGNC 6844 ENST00000602375 7/10 COSM21292&COSM1380926 1 NA CGC G,A 8.236e-06 17:12125315 MAP2K4 HGNC Symbol protein_coding 123006 ENSG00000065559 ENSE00003524523 missense_variant 3.784885 0.99389 0.99202 0.706298 0.94552595477195 0 0.997002550124826 TRUE 4.06108e-06 ENSE00000688607_010 ENSE00000688607 010 17 12028560 12028729 + 51 78 41 G A 12028653 765 94 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATATCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 12125335 12125336 12125336 exon -36 0.551282051282051 ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATATCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA mutant NA NA NA NA NA 689 491 1 0.99512258829883 0.997561294149415 NA NA 0.935070485011414 0.892839987723289 NA NA 0.0649295149885862 0.102282600575541 NA 0.913955236367352 NA 0.0836060577820634 NA FALSE NA 1 9.565 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MAP2K4 HGNC 6844 ENST00000602375 7/10 rs537815982 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGT G,A 2.471e-05 17:12125336 MAP2K4 HGNC Symbol protein_coding 123006 ENSG00000065559 ENSE00003524523 missense_variant 4.680246 0.99389 0.99202 0.706298 0.98390817804019 0 0.997002550124826 TRUE 1.2183e-05 ENSE00000688607_BRK ENSE00000688607 BRK 17 12028560 12028729 + 51 78 41 A,G; T,T NA NA NA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCTTCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGCCATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA 12125242 12125412 NA NA NA NA NA NA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCTTCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGCCATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA ATTCCTTGAGTGTAAGGCAATTAATAACTTACACTTGTCTTTATGTTCCAGCCTGAAAGAATAGACCCAAGCGCATCACGACAAGGATATGATGTCCGCTCTGATGTCTGGAGTTTGGGGATCACATTGGTATGTTTATGCTGATTCAACCTTGCCACAGTAGCGTAACA control NA NA NA NA NA 251 1099 0 0.0128095861355312 0.00640479306776561 NA NA 0.935070485011414 0.892839987723289 NA NA -0.935070485011414 -0.880030401587758 NA 0.913955236367352 NA -0.907550443299586 NA TRUE NA NA NA NA NA NA MAP2K4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAP2K4 NA NA NA ENSG00000065559 ENSE00003524523 NA NA NA NA NA NA NA 0.997002550124826 TRUE NA ENSE00000689886_000 ENSE00000689886 000 11 1905118 1905287 + 44 93 33 NA NA NA NA NA CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC 1883887 1884057 NA NA NA NA NA NA CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC natural NA NA NA NA NA 171 53 0.924044371793269 0.92798952674095 0.926016949267109 NA NA 0.924044371793269 0.92798952674095 NA NA 0 0 NA 0.926016949267109 NA 0 NA FALSE NA NA NA NA NA NA LSP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LSP1 NA NA NA ENSG00000130592 ENSE00003661845 NA NA NA NA NA NA NA 0.259641696484575 FALSE NA ENSE00000689886_005 ENSE00000689886 005 11 1905118 1905287 + 44 93 33 T G 1905143 35 26 GGAGAAGATGGCAGGCTTTGCAGCTTAACTTACTTTGGTGGTAGGGCTCAGGGGAGGCGAGCTCTGTTCGATGGTCCCCTCCAAGACCAAGGGGCTGGGTGTCCTGGGCTGCTGACATTTCTGGTGCTAGAAAAAAAAAAACAGCCATCCCAAGTGACCCCCTGCTTGTG 1883887 1884057 1883912 1883913 1883913 upstr_intron -19 -0.409090909090909 CACAAGCAGGGGGTCACTTGGGATGGCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC mutant NA NA NA NA NA 48 25 0.875861708095849 0.998463048960043 0.937162378527946 NA NA 0.924044371793269 0.92798952674095 NA NA -0.0481826636974199 0.070473522219093 NA 0.926016949267109 NA 0.0111454292608366 NA FALSE NA 0 -0.478 . intron_variant&non_coding_transcript_variant MODIFIER LSP1 HGNC 6707 ENST00000472974 3/8 rs370034760 1 NA G:0 G:0.0001 GTC .,G 8.247e-06 11:1883913 LSP1 HGNC Symbol protein_coding 39297 ENSG00000130592 ENSE00003661845 intron_variant -0.047431 0.15372 0.03539 0.256867 0.264293381159564 0.0521628 0.259641696484575 FALSE NA ENSE00000689886_008 ENSE00000689886 008 11 1905118 1905287 + 44 93 33 T G 1905173 38 56 GGAGAAGATGGCAGGCTTTGCAGCTTAACTTACTTTGGTGGTAGGGCTCAGGGGAGGCGAGCTCTGTTCGATGGTCCCCTCCAAGACCAAGGGGCTGGGTGTCCTGGGCTGCTGCCATTTCTGGTGCTAGAAAAAAAAAAACAGACATCCCAAGTGACCCCCTGCTTGTG 1883887 1884057 1883942 1883943 1883943 exon 12 0.129032258064516 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGGCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC mutant NA NA NA NA NA 15 13 0.989622405950899 0.987361352249262 0.988491879100081 NA NA 0.924044371793269 0.92798952674095 NA NA 0.0655780341576309 0.0593718255083119 NA 0.926016949267109 NA 0.0624749298329714 NA FALSE NA 0 -0.484 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LSP1 HGNC 6707 ENST00000472974 4/9 rs199783035 1 NA GTC .,G 0.0002142 11:1883943 LSP1 HGNC Symbol protein_coding 39297 ENSG00000130592 ENSE00003661845 missense_variant -0.262085 0.12201 0.03073 0.67177 0.90359356961319 0 0.259641696484575 FALSE 0.000277358 ENSE00000689886_011 ENSE00000689886 011 11 1905118 1905287 + 44 93 33 C T 1905194 41 77 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGTCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC 1883887 1884057 1883963 1883964 1883964 exon 33 0.354838709677419 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGTCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC mutant NA NA NA NA NA 71 45 0.997246170732722 1 0.998623085366361 NA NA 0.924044371793269 0.92798952674095 NA NA 0.0732017989394539 0.0720104732590497 NA 0.926016949267109 NA 0.0726061360992518 NA FALSE NA 0.029 -0.039 rs144985136 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LSP1 HGNC 6707 ENST00000472974 4/9 rs144985136 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0011 T:0 GCC .,T 9.884e-05 11:1883964 LSP1 HGNC Symbol protein_coding 39297 ENSG00000130592 ENSE00003661845 synonymous_variant 1.139261 0.86077 0.28924 0.67177 0.600577588235922 0 0.259641696484575 FALSE 5.32756e-05 ENSE00000689886_016 ENSE00000689886 016 11 1905118 1905287 + 44 93 33 G A 1905224 46 107 GGAGAAGATGGCAGGCTTTGCAGCTTAACTTACTTTGGTGGTAGGGCTCAGGGGAGGCGAGCTTTGTTCGATGGTCCCCTCCAAGACCAAGGGGCTGGGTGTCCTGGGCTGCTGACATTTCTGGTGCTAGAAAAAAAAAAACAGACATCCCAAGTGACCCCCTGCTTGTG 1883887 1884057 1883993 1883994 1883994 exon -31 0.67741935483871 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAAAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC mutant NA NA NA NA NA 18 31 1 0.989657047772627 0.994828523886313 NA NA 0.924044371793269 0.92798952674095 NA NA 0.0759556282067314 0.0616675210316765 NA 0.926016949267109 NA 0.068811574619204 NA FALSE NA 0 -0.198 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LSP1 HGNC 6707 ENST00000472974 4/9 1 NA AGA .,A 8.236e-06 11:1883994 LSP1 HGNC Symbol protein_coding 39297 ENSG00000130592 ENSE00003661845 synonymous_variant -0.639235 0.15288 0.06157 0.67177 0.541806387077952 0 0.259641696484575 FALSE 8.15621e-06 ENSE00000689886_020 ENSE00000689886 020 11 1905118 1905287 + 44 93 33 C T 1905248 50 131 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACTACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC 1883887 1884057 1884017 1884018 1884018 exon -7 0.935483870967742 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACTACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC mutant NA NA NA NA NA 77 18 0.999464311271883 1 0.999732155635941 NA NA 0.924044371793269 0.92798952674095 NA NA 0.075419939478614 0.0720104732590497 NA 0.926016949267109 NA 0.0737152063688319 NA FALSE NA 0.028 0.996 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LSP1 HGNC 6707 ENST00000472974 4/9 1 NA CCA .,T 8.236e-06 11:1884018 LSP1 HGNC Symbol protein_coding 39297 ENSG00000130592 ENSE00003661845 synonymous_variant 0.693263 0.86373 0.33949 0.67177 0.59213553148486 0 0.259641696484575 FALSE 4.12344e-06 ENSE00000689886_022 ENSE00000689886 022 11 1905118 1905287 + 44 93 33 A G 1905263 52 146 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAGGCTGCAAAGCCTGCCATCTTCTCC 1883887 1884057 1884032 1884033 1884033 downstr_intron 9 1.28125 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAGGCTGCAAAGCCTGCCATCTTCTCC CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC mutant NA NA NA NA NA 52 29 0.972359585261995 1 0.986179792630997 NA NA 0.924044371793269 0.92798952674095 NA NA 0.0483152134687259 0.0720104732590497 NA 0.926016949267109 NA 0.0601628433638878 NA FALSE NA 0 0.324 . intron_variant&non_coding_transcript_variant MODIFIER LSP1 HGNC 6707 ENST00000472974 4/8 1 NA AAG .,G 1.647e-05 11:1884033 LSP1 HGNC Symbol protein_coding 39297 ENSG00000130592 ENSE00003661845 intron_variant -0.057212 0.14379 0.06327 0.115753 0.562437239428872 0.0702839 0.259641696484575 FALSE 1.25607e-05 ENSE00000689886_023 ENSE00000689886 023 11 1905118 1905287 + 44 93 33 G A 1905264 53 147 GGAGAAGATGGCAGGCTTTGCAGTTTAACTTACTTTGGTGGTAGGGCTCAGGGGAGGCGAGCTCTGTTCGATGGTCCCCTCCAAGACCAAGGGGCTGGGTGTCCTGGGCTGCTGACATTTCTGGTGCTAGAAAAAAAAAAACAGACATCCCAAGTGACCCCCTGCTTGTG 1883887 1884057 1884033 1884034 1884034 downstr_intron 10 1.3125 CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAACTGCAAAGCCTGCCATCTTCTCC CACAAGCAGGGGGTCACTTGGGATGTCTGTTTTTTTTTTTCTAGCACCAGAAATGTCAGCAGCCCAGGACACCCAGCCCCTTGGTCTTGGAGGGGACCATCGAACAGAGCTCGCCTCCCCTGAGCCCTACCACCAAAGTAAGTTAAGCTGCAAAGCCTGCCATCTTCTCC mutant NA NA NA NA NA 75 17 0.995324777191702 1 0.997662388595851 NA NA 0.924044371793269 0.92798952674095 NA NA 0.0712804053984337 0.0720104732590497 NA 0.926016949267109 NA 0.0716454393287417 NA FALSE NA 0 0.439 . intron_variant&non_coding_transcript_variant MODIFIER LSP1 HGNC 6707 ENST00000472974 4/8 1 NA AGC .,A 8.236e-06 11:1884034 LSP1 HGNC Symbol protein_coding 39297 ENSG00000130592 ENSE00003661845 intron_variant 0.303682 0.24232 0.1198 0.115753 0.408006766978804 0.856119 0.259641696484575 FALSE 4.1868e-06 ENSE00000690276_000 ENSE00000690276 000 19 18555977 18556146 - 57 45 68 NA NA NA NA NA CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 NA NA NA NA NA NA CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG natural 74 118 0.990961169329712 0.96538186383274 0.978171516581226 2439 2941 0.925386176785275 0.932982050967289 0.929184113876282 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 0 0 0 0 0.978171516581226 0.929184113876282 0 0 0 FALSE FALSE NA NA NA NA NA ELL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELL NA NA NA ENSG00000105656 ENSE00003708694 NA NA NA NA NA NA NA 0.940941238331597 TRUE NA ENSE00000690276_002 ENSE00000690276 002 19 18555977 18556146 - 57 45 68 A G 18555993 1773 154 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCACGGGAGCTGGAGGGAGG 18445166 18445336 18445182 18445183 18445183 downstr_intron 41 1.73214285714286 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCACGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG mutant NA NA NA NA NA 176 197 0.970901624833049 1 0.985450812416524 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 NA NA 0.0455154480477736 0.0670179490327107 0.978171516581226 0.929184113876282 NA 0.0562666985402422 NA FALSE NA 0 -0.809 . intron_variant MODIFIER ELL HGNC 23114 ENST00000262809 11/11 1 NA CAT A,G 3.295e-05 19:18445183 ELL HGNC Symbol protein_coding 79464 ENSG00000105656 ENSE00003708694 intron_variant 0.437479 0.03649 0.00123 0.115753 0.720000170073866 0.0486659 0.940941238331597 TRUE 4.06207e-05 ENSE00000690276_006 ENSE00000690276 006 19 18555977 18556146 - 57 45 68 C T 18556015 1777 132 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTAGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 18445204 18445205 18445205 downstr_intron 19 1.33928571428571 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTAGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG mutant NA NA NA NA NA 342 92 0.998790430845069 1 0.999395215422535 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 NA NA 0.0734042540597942 0.0670179490327107 0.978171516581226 0.929184113876282 NA 0.0702111015462525 NA FALSE NA 0.049 0.595 . intron_variant MODIFIER ELL HGNC 23114 ENST00000262809 11/11 1 NA CCA C,T 1.647e-05 19:18445205 ELL HGNC Symbol protein_coding 79464 ENSG00000105656 ENSE00003708694 intron_variant 1.399372 0.10004 0.01016 0.256867 0.911940524247466 0.0485915 0.940941238331597 TRUE 2.03057e-05 ENSE00000690276_007 ENSE00000690276 007 19 18555977 18556146 - 57 45 68 C T 18556029 1778 118 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAATGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 18445218 18445219 18445219 downstr_intron 5 1.08928571428571 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAATGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG mutant 27 31 0.85 0.85 0.85 NA NA NA NA NA 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 -0.140961169329712 -0.11538186383274 NA NA 0.978171516581226 0.929184113876282 -0.128171516581226 NA NA NA FALSE 0.201 1.214 . splice_region_variant&intron_variant LOW ELL HGNC 23114 ENST00000262809 11/11 rs368682452 1 NA T:0.0002 T:0 ACT C,T 8.237e-06 19:18445219 ELL HGNC Symbol protein_coding 79464 ENSG00000105656 ENSE00003708694 splice_region_variant 1.237235 0.32662 0.08472 0.256867 0.910969380886995 0.0938641 0.940941238331597 TRUE 4.06072e-06 ENSE00000690276_009 ENSE00000690276 009 19 18555977 18556146 - 57 45 68 C T 18556047 1780 100 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCAAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 18445236 18445237 18445237 exon -14 0.711111111111111 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCAAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG mutant NA NA NA NA NA 351 88 1 1 1 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 NA NA 0.0746138232147249 0.0670179490327107 0.978171516581226 0.929184113876282 NA 0.0708158861237178 NA FALSE NA 0.926 2.199 . missense_variant MODERATE ELL HGNC 23114 ENST00000262809 11/12 rs372099279 1 tolerated(0.3) benign(0.247) NA T:0 T:0.0001 TCG C,T 8.236e-06 19:18445237 ELL HGNC Symbol protein_coding 79464 ENSG00000105656 ENSE00003708694 missense_variant 3.230079 0.72691 0.42499 0.706548 0.940764590943368 0 0.940941238331597 TRUE 1.21823e-05 ENSE00000690276_010 ENSE00000690276 010 19 18555977 18556146 - 57 45 68 G C 18556048 1781 99 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATGGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 18445237 18445238 18445238 exon -15 0.688888888888889 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATGGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG mutant NA NA NA NA NA 509 100 0.995147439249521 1 0.99757371962476 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 NA NA 0.0697612624642457 0.0670179490327107 0.978171516581226 0.929184113876282 NA 0.0683896057484782 NA FALSE NA 0.94 1.324 . missense_variant MODERATE ELL HGNC 23114 ENST00000262809 11/12 rs568866266 1 deleterious(0) possibly_damaging(0.528) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CGA G,C 0.0001318 19:18445238 ELL HGNC Symbol protein_coding 79464 ENSG00000105656 ENSE00003708694 missense_variant 4.164539 0.6767 0.54844 0.67177 0.951358996375083 0 0.940941238331597 TRUE 0.000170556 ENSE00000690276_012 ENSE00000690276 012 19 18555977 18556146 - 57 45 68 A G 18556081 1783 66 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCCAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 18445270 18445271 18445271 upstr_intron -3 -0.0294117647058824 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCCAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG mutant NA NA NA NA NA 25 323 1 1 1 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 NA NA 0.0746138232147249 0.0670179490327107 0.978171516581226 0.929184113876282 NA 0.0708158861237178 NA FALSE NA 0.975 1.232 . splice_region_variant&intron_variant LOW ELL HGNC 23114 ENST00000262809 10/11 1 NA TAG A,G 8.237e-06 19:18445271 ELL HGNC Symbol protein_coding 79464 ENSG00000105656 ENSE00003708694 splice_region_variant 1.31131 0.6483 0.03257 0.099367 0.904886885798079 0.213673 0.940941238331597 TRUE 4.06111e-06 ENSE00000690276_013 ENSE00000690276 013 19 18555977 18556146 - 57 45 68 A G 18556083 1784 64 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTCCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 18445272 18445273 18445273 upstr_intron -5 -0.0588235294117647 CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTCCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG mutant NA NA NA NA NA 264 279 0.996358546735475 1 0.998179273367738 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 NA NA 0.0709723699502002 0.0670179490327107 0.978171516581226 0.929184113876282 NA 0.0689951594914555 NA FALSE NA 0.079 1.009 . splice_region_variant&intron_variant LOW ELL HGNC 23114 ENST00000262809 10/11 1 NA GAA A,G 8.237e-06 19:18445273 ELL HGNC Symbol protein_coding 79464 ENSG00000105656 ENSE00003708694 splice_region_variant 0.893132 0.17654 0.02029 0.099367 0.895851658865488 0.137884 0.940941238331597 TRUE 8.12216e-06 ENSE00000690276_018 ENSE00000690276 018 19 18555977 18556146 - 57 45 68 C G 18556122 1789 25 CCACTCAATTTGGGTTTCCTGTAGCCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 18445311 18445312 18445312 upstr_intron -44 -0.632352941176471 CCACTCAATTTGGGTTTCCTGTAGCCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG mutant NA NA NA NA NA 529 48 1 1 1 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 NA NA 0.0746138232147249 0.0670179490327107 0.978171516581226 0.929184113876282 NA 0.0708158861237178 NA FALSE NA 0 -0.786 . intron_variant MODIFIER ELL HGNC 23114 ENST00000262809 10/11 1 NA GCC C,G 0.0001483 19:18445312 ELL HGNC Symbol protein_coding 79464 ENSG00000105656 ENSE00003708694 non_coding_transcript_exon_variant -0.042554 0.10816 0.02488 0.069865 0.4109269474407 0.0581589 0.940941238331597 TRUE 0.000113999 ENSE00000690276_BRK ENSE00000690276 BRK 19 18555977 18556146 - 57 45 68 A,G; T,T NA NA NA CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTTTACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGCCGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG 18445166 18445336 NA NA NA NA NA NA CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTTTACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGCCGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG CCACTCAATTTGGGTTTCCTGTAGGCGGGGACACATTCTGTTTTCTCAAAATTTTGTTTTTCTTCTAGACTACTCGAGGGCAGATTTTGCAGGAATATCGAAAAATCAAAAAGGTGAGTGTCTCTTGTGTTGGGGTGGGCTCCAAGTGAGCCATGGGAGCTGGAGGGAGG control 102 65 0 0 0 NA NA NA NA NA 0.990961169329712 0.96538186383274 0.925386176785275 0.932982050967289 -0.990961169329712 -0.96538186383274 NA NA 0.978171516581226 0.929184113876282 -0.978171516581226 NA NA NA TRUE NA NA NA NA NA ELL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELL NA NA NA ENSG00000105656 ENSE00003708694 NA NA NA NA NA NA NA 0.940941238331597 TRUE NA ENSE00000691736_000 ENSE00000691736 000 9 17747008 17747177 + 56 69 45 NA NA NA NA NA ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 NA NA NA NA NA NA CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT natural 65 142 0.985670979723771 0.96662872643652 0.976149853080146 3884 4495 0.993029530560746 0.946430481146262 0.969730005853504 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 0 0 0 0 0.976149853080146 0.969730005853504 0 0 0 FALSE FALSE NA NA NA NA NA SH3GL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SH3GL2 NA NA NA ENSG00000107295 ENSE00003608968 NA NA NA NA NA NA NA 0.916295307104429 TRUE NA ENSE00000691736_001 ENSE00000691736 001 9 17747008 17747177 + 56 69 45 A G 17747018 155 11 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTCAAAAAATGTG 17747009 17747179 17747019 17747020 17747020 upstr_intron -46 -0.803571428571429 CACATTTTTTGAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 151 497 1 0.983747249684694 0.991873624842347 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.0373167685384319 0.976149853080146 0.969730005853504 NA 0.022143618988843 NA FALSE NA 0.022 1.849 . intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 1/8 1 NA TAA A,G 8.24e-06 9:17747020 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant 0.370648 0.31794 0.26094 0.053691 0.720450701784599 0.547799 0.916295307104429 TRUE NA ENSE00000691736_002 ENSE00000691736 002 9 17747008 17747177 + 56 69 45 A C 17747022 156 15 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTGCTTTAAAAAATGTG 17747009 17747179 17747023 17747024 17747024 upstr_intron -42 -0.732142857142857 CACATTTTTTAAAGCAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 801 3194 0.99091231458784 0.998651137188872 0.994781725888356 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA -0.00211721597290615 0.0522206560426106 0.976149853080146 0.969730005853504 NA 0.0250517200348522 NA FALSE NA 0.046 0.376 rs192687464 intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 1/8 rs192687464 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 GAA A,C 4.119e-05 9:17747024 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant 0.045694 0.5903 0.05841 0.053691 0.760892831580087 0.882222 0.916295307104429 TRUE 5.11038e-05 ENSE00000691736_003 ENSE00000691736 003 9 17747008 17747177 + 56 69 45 T A 17747026 157 19 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACTGTTTCTTTAAAAAATGTG 17747009 17747179 17747027 17747028 17747028 upstr_intron -38 -0.660714285714286 CACATTTTTTAAAGAAACAGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 689 1344 0.990837102096412 0.994734684006467 0.992785893051439 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA -0.00219242846433432 0.0483042028602051 0.976149853080146 0.969730005853504 NA 0.0230558871979354 NA FALSE NA 0 -0.251 . intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 1/8 1 NA CTG T,A 8.238e-06 9:17747028 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant 0.459714 0.17981 0.05801 0.053691 0.671041214897293 0.0448725 0.916295307104429 TRUE 4.61553e-06 ENSE00000691736_004 ENSE00000691736 004 9 17747008 17747177 + 56 69 45 G C 17747027 158 20 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAAGAGTTTCTTTAAAAAATGTG 17747009 17747179 17747028 17747029 17747029 upstr_intron -37 -0.642857142857143 CACATTTTTTAAAGAAACTCTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 60 1323 1 0.999277603822606 0.999638801911303 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.0528471226763442 0.976149853080146 0.969730005853504 NA 0.0299087960577991 NA FALSE NA 0 -0.009 . intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 1/8 1 NA TGT G,C 8.238e-06 9:17747029 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant -0.118582 0.27301 0.06962 0.053691 0.680610608717373 0.0448725 0.916295307104429 TRUE NA ENSE00000691736_007 ENSE00000691736 007 9 17747008 17747177 + 56 69 45 C T 17747040 161 33 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAAAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747041 17747042 17747042 upstr_intron -24 -0.410714285714286 CACATTTTTTAAAGAAACTGTTTATAATAATTTTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 769 1008 0.99946361306108 0.991823584426591 0.995643598743835 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00643408250033384 0.0453931032803288 0.976149853080146 0.969730005853504 NA 0.0259135928903313 NA FALSE NA 0 -0.096 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:17747042 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant 0.816868 0.16231 0.01274 0.053691 0.618349351911191 0.0689414 0.916295307104429 TRUE 4.31507e-06 ENSE00000691736_008 ENSE00000691736 008 9 17747008 17747177 + 56 69 45 C G 17747040 162 33 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGACAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747041 17747042 17747042 upstr_intron -24 -0.410714285714286 CACATTTTTTAAAGAAACTGTTTATAATAATTGTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 686 267 1 0.984346126117866 0.992173063058933 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.0379156449716046 0.976149853080146 0.969730005853504 NA 0.0224430572054293 NA FALSE NA 0 -0.096 NA NA NA SH3GL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SH3GL2 NA NA NA ENSG00000107295 ENSE00003608968 intron_variant 0.635572 0.26888 0.15717 0.053691 0.707070587401239 0.0689414 0.916295307104429 TRUE 4.31507e-06 ENSE00000691736_009 ENSE00000691736 009 9 17747008 17747177 + 56 69 45 C T 17747042 163 35 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGAAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747043 17747044 17747044 upstr_intron -22 -0.375 CACATTTTTTAAAGAAACTGTTTATAATAATTCTTCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 417 444 1 1 1 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.0535695188537382 0.976149853080146 0.969730005853504 NA 0.0302699941464961 NA FALSE NA 0 -1.764 . intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 1/8 1 NA TCC C,T 8.237e-06 9:17747044 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant 0.240406 0.19606 0.01549 0.053691 0.479676765963154 0.0689414 0.916295307104429 TRUE 8.4528e-06 ENSE00000691736_010 ENSE00000691736 010 9 17747008 17747177 + 56 69 45 T C 17747046 164 39 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACGAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747047 17747048 17747048 upstr_intron -18 -0.303571428571429 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTCGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 569 63 1 0.997481292092871 0.998740646046436 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.0510508109466096 0.976149853080146 0.969730005853504 NA 0.0290106401929318 NA FALSE NA 0.064 0.195 . intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 1/8 rs377541799 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 C:0 C:0.0001 TTG T,C 0.000486 9:17747048 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant -0.10369 0.25342 0.17906 0.053691 0.616266083029466 0.118391 0.916295307104429 TRUE 0.000419914 ENSE00000691736_011 ENSE00000691736 011 9 17747008 17747177 + 56 69 45 C G 17747058 165 51 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTACAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747059 17747060 17747060 upstr_intron -6 -0.0892857142857143 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTGTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 758 26 0.998909069292748 1 0.999454534646374 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00587953873200242 0.0535695188537382 0.976149853080146 0.969730005853504 NA 0.0297245287928703 NA FALSE NA 1 0.584 . splice_region_variant&intron_variant LOW SH3GL2 HGNC 10831 ENST00000380607 1/8 1 NA TCT C,G 8.237e-06 9:17747060 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 splice_region_variant 1.657209 0.98488 0.88136 0.053691 0.835072282767696 0.342547 0.916295307104429 TRUE NA ENSE00000691736_012 ENSE00000691736 012 9 17747008 17747177 + 56 69 45 C T 17747061 166 54 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTATAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747062 17747063 17747063 upstr_intron -3 -0.0357142857142857 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTATAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 1270 37 1 0.991353470461362 0.995676735230681 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.0449229893150997 0.976149853080146 0.969730005853504 NA 0.0259467293771769 NA FALSE NA 1 4.276 . splice_region_variant&intron_variant LOW SH3GL2 HGNC 10831 ENST00000380607 1/8 1 NA ACA C,T 1.647e-05 9:17747063 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 splice_region_variant 2.230813 0.99189 0.9209 0.078448 0.952573125670804 0.875761 0.916295307104429 TRUE 1.64479e-05 ENSE00000691736_013 ENSE00000691736 013 9 17747008 17747177 + 56 69 45 A G 17747065 167 58 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTCTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747066 17747067 17747067 exon 2 0.0289855072463768 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAGAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 281 525 1 0.993110809231233 0.996555404615616 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.046680328084971 0.976149853080146 0.969730005853504 NA 0.0268253987621125 NA FALSE NA 1 2.468 . missense_variant&splice_region_variant MODERATE SH3GL2 HGNC 10831 ENST00000380607 2/9 1 tolerated(0.14) benign(0.023) NA AAA A,G 8.237e-06 9:17747067 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 missense_variant 2.543624 0.98944 0.86978 0.615465 0.996531112302265 0 0.916295307104429 TRUE 4.0824e-06 ENSE00000691736_014 ENSE00000691736 014 9 17747008 17747177 + 56 69 45 T C 17747090 168 83 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCGGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747091 17747092 17747092 exon 27 0.391304347826087 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCCGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 1046 1113 1 0.997564686657068 0.998782343328534 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.0511342055108063 0.976149853080146 0.969730005853504 NA 0.0290523374750302 NA FALSE NA 0.989 0.091 . synonymous_variant LOW SH3GL2 HGNC 10831 ENST00000380607 2/9 1 NA CTG T,C 2.471e-05 9:17747092 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 synonymous_variant 0.801631 0.95794 0.67936 0.615465 0.71060675941619 0 0.916295307104429 TRUE 1.22054e-05 ENSE00000691736_016 ENSE00000691736 016 9 17747008 17747177 + 56 69 45 T C 17747115 170 108 ACATGTTTATGTCAAAGGGAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAGGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747116 17747117 17747117 exon -18 0.753623188405797 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACCTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 812 943 0.998315402252049 0.998199365002069 0.998257383627059 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00528587169130268 0.0517688838558071 0.976149853080146 0.969730005853504 NA 0.0285273777735549 NA FALSE NA 1 7.239 . missense_variant MODERATE SH3GL2 HGNC 10831 ENST00000380607 2/9 1 deleterious(0.02) possibly_damaging(0.878) NA CTT T,C 8.237e-06 9:17747117 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 missense_variant 6.897973 0.99336 0.97195 0.615465 0.998681258690689 0 0.916295307104429 TRUE 4.07657e-06 ENSE00000691736_018 ENSE00000691736 018 9 17747008 17747177 + 56 69 45 A T 17747124 172 117 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGTTGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT 17747009 17747179 17747125 17747126 17747126 exon -9 0.884057971014493 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGTTGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 197 1955 0.994219530619486 0.994285572505972 0.994252551562729 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00119000005874026 0.0478550913597102 0.976149853080146 0.969730005853504 NA 0.0245225457092252 NA FALSE NA 1 6.523 . missense_variant MODERATE SH3GL2 HGNC 10831 ENST00000380607 2/9 1 tolerated(0.21) possibly_damaging(0.532) NA GAT A,T 4.118e-05 9:17747126 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 missense_variant 4.298425 0.99359 0.96501 0.615465 0.965584848384325 0 0.916295307104429 TRUE 2.45068e-05 ENSE00000691736_019 ENSE00000691736 019 9 17747008 17747177 + 56 69 45 G A 17747154 173 147 ACATGTTTATGTCAAAGGGAACATTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747155 17747156 17747156 downstr_intron 22 1.5 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAATGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 1137 84 0.998506492831559 1 0.999253246415779 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00547696227081274 0.0535695188537382 0.976149853080146 0.969730005853504 NA 0.0295232405622755 NA FALSE NA 0 -0.375 . intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 2/8 1 NA AGT G,A 4.119e-05 9:17747156 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant -0.088062 0.19321 0.03532 0.053691 0.365674617444253 0.0431032 0.916295307104429 TRUE 5.19418e-05 ENSE00000691736_020 ENSE00000691736 020 9 17747008 17747177 + 56 69 45 T C 17747157 174 150 ACATGTTTATGTCAAAGGGAGCACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747158 17747159 17747159 downstr_intron 25 1.56818181818182 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGCTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 859 52 1 1 1 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA 0.00697046943925406 0.0535695188537382 0.976149853080146 0.969730005853504 NA 0.0302699941464961 NA FALSE NA 0.001 -0.004 . intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 2/8 1 NA GTT T,C 1.648e-05 9:17747159 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant 0.061438 0.16184 0.01491 0.053691 0.676139224190263 0.0431032 0.916295307104429 TRUE NA ENSE00000691736_021 ENSE00000691736 021 9 17747008 17747177 + 56 69 45 C G 17747159 175 152 ACATGTTTATGTCAAAGGCAACACTAGGCAGTAGTGAAGGCTTACCCTTTCCATCTCTTTGAAGTCATCATCTAGCTTGGTTCCTTCAGCTCCTCCAACCTTCTCACTCACTTTCTGTAGAAAATAACCACAAAGGAGAATTATTATAAACAGTTTCTTTAAAAAATGTG 17747009 17747179 17747160 17747161 17747161 downstr_intron 27 1.61363636363636 CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTGCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT mutant NA NA NA NA NA 3178 1229 0.992463553393985 0.997229757472226 0.994846655433105 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA -0.000565977166761211 0.0507992763259643 0.976149853080146 0.969730005853504 NA 0.0251166495796015 NA FALSE NA 0 0.139 . intron_variant MODIFIER SH3GL2 HGNC 10831 ENST00000380607 2/8 rs368196765 1 NA G:0 G:0.0001 TCC C,G 1.648e-05 9:17747161 SH3GL2 HGNC Symbol protein_coding 218047 ENSG00000107295 ENSE00003608968 intron_variant 0.124943 0.22053 0.04848 0.053691 0.53067256367442 0.0431032 0.916295307104429 TRUE 2.22189e-05 ENSE00000691736_BRK ENSE00000691736 BRK 9 17747008 17747177 + 56 69 45 A,G; T,T NA NA NA CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACTTAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGCCAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT 17747009 17747179 NA NA NA NA NA NA CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACTTAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGCCAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT CACATTTTTTAAAGAAACTGTTTATAATAATTCTCCTTTGTGGTTATTTTCTACAGAAAGTGAGTGAGAAGGTTGGAGGAGCTGAAGGAACCAAGCTAGATGATGACTTCAAAGAGATGGAAAGGGTAAGCCTTCACTACTGCCTAGTGTTCCCTTTGACATAAACATGT control NA NA NA NA NA 233 354 0.0257600199291367 0 0.0128800099645684 0.985670979723771 0.96662872643652 0.993029530560746 0.946430481146262 NA NA -0.967269510631609 -0.946430481146262 0.976149853080146 0.969730005853504 NA -0.956849995888936 NA TRUE NA NA NA NA NA NA SH3GL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SH3GL2 NA NA NA ENSG00000107295 ENSE00003608968 NA NA NA NA NA NA NA 0.916295307104429 TRUE NA ENSE00000692050_000 ENSE00000692050 000 8 41563631 41563800 - 30 99 41 NA NA NA NA NA CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 NA NA NA NA NA NA CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT natural NA NA NA NA NA 570 176 0.98033994220381 0.994635727707107 0.987487834955459 NA NA 0.98033994220381 0.994635727707107 NA NA 0 0 NA 0.987487834955459 NA 0 NA FALSE NA NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00000692050 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00000692050_001 ENSE00000692050 001 8 41563631 41563800 - 30 99 41 C T 41563645 973 156 ACAGACTGAAGTTCTGGCTGCCTGCCTTACCCGGGTGGTGGCGTCCACCATGACGCCGTGTTTGATCAGCACATCTGCCACTGGAACGTGGCCTTCTTGTGCTACCAGATGGAGGGGAGTGAGTCCGCTCTGCAAAGAAAAAGACGTTCATCACCTTCTATCAAGTAAAG 41706112 41706282 41706126 41706127 41706127 downstr_intron 16 1.55172413793103 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCAGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 1000 46 0.996301546137882 1 0.998150773068941 NA NA 0.98033994220381 0.994635727707107 NA NA 0.0159616039340721 0.00536427229289282 NA 0.987487834955459 NA 0.0106629381134825 NA FALSE NA 0.011 0.324 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 18/42 1 NA CCG C,T 1.647e-05 8:41706127 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 intron_variant -0.11485 0.20028 0.02067 0.078448 0.570787613796528 0.0447689 0.999999999957629 TRUE 1.22091e-05 ENSE00000692050_002 ENSE00000692050 002 8 41563631 41563800 - 30 99 41 G A 41563646 974 155 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCTGGAACTTCAGTCTGT 41706112 41706282 41706127 41706128 41706128 downstr_intron 15 1.51724137931034 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCTGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 221 270 0.99698191824241 0.992317128317251 0.99464952327983 NA NA 0.98033994220381 0.994635727707107 NA NA 0.0166419760385998 -0.00231859938985646 NA 0.987487834955459 NA 0.0071616883243717 NA FALSE NA 0.01 0.069 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 18/42 rs200206750 1 A:0.0006 A:0 A:0.0014 NA A:0.001 A:0 A:0.001 A:0 A:0.0006 CGG G,A 0.0005848 8:41706128 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 intron_variant -0.216329 0.2942 0.11968 0.078448 0.611644435689621 0.0838924 0.999999999957629 TRUE 0.000638855 ENSE00000692050_005 ENSE00000692050 005 8 41563631 41563800 - 30 99 41 C T 41563672 977 129 ACAGACTGAAGTTCCGGCTGCCTGCCTTACCCGGGTGGTGGTGTCCACCATGACGCCGTGTTTGATCAGCACATCTGCCACTGGAACGTGGCCTTCTTGTGCTACCAGATGGAGGGGAGTGAGTCCGCTCTGCAAAGAAAAAGACGTTCATCACCTTCTATCAAGTAAAG 41706112 41706282 41706153 41706154 41706154 exon -12 0.888888888888889 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACACCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 29 130 1 1 1 NA NA 0.98033994220381 0.994635727707107 NA NA 0.0196600577961898 0.00536427229289282 NA 0.987487834955459 NA 0.0125121650445413 NA FALSE NA 1 3.836 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 18/43 1 deleterious(0.01) benign(0.245) NA GCG C,T 1.647e-05 8:41706154 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 missense_variant 4.40412 0.97862 0.97604 0.615465 0.999289824182343 0 0.999999999957629 TRUE 4.87983e-05 ENSE00000692050_011 ENSE00000692050 011 8 41563631 41563800 - 30 99 41 G A 41563688 983 113 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACATGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706169 41706170 41706170 exon -28 0.727272727272727 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACATGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 138 212 0.950951397577541 0.962526839926141 0.956739118751841 NA NA 0.98033994220381 0.994635727707107 NA NA -0.0293885446262693 -0.0321088877809665 NA 0.987487834955459 NA -0.0307487162036179 NA FALSE NA 0 -2.27 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 18/43 1 NA CGT G,A 2.471e-05 8:41706170 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 synonymous_variant -0.02395 0.19502 0.09937 0.706298 0.494977069568851 0 0.999999999957629 TRUE 2.84504e-05 ENSE00000692050_013 ENSE00000692050 013 8 41563631 41563800 - 30 99 41 G C 41563714 985 87 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTGCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706195 41706196 41706196 exon 46 0.464646464646465 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTGCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 253 38 0.885647449044626 1 0.942823724522313 NA NA 0.98033994220381 0.994635727707107 NA NA -0.0946924931591846 0.00536427229289282 NA 0.987487834955459 NA -0.0446641104331459 NA FALSE NA 0.555 3.096 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:41706196 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 missense_variant 0.053004 0.30381 0.67251 0.615465 0.893737068269327 0 0.999999999957629 TRUE 6.09365e-05 ENSE00000692050_014 ENSE00000692050 014 8 41563631 41563800 - 30 99 41 G A 41563714 986 87 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTTCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706195 41706196 41706196 exon 46 0.464646464646465 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTTCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 52 161 0.847415977523834 0.8 0.823707988761917 NA NA 0.98033994220381 0.994635727707107 NA NA -0.132923964679976 -0.194635727707107 NA 0.987487834955459 NA -0.163779846193542 NA FALSE NA 0.555 3.096 NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00000692050 missense_variant 0.895258 0.32047 0.74173 0.615465 0.947958836461874 0 0.999999999957629 TRUE 1.21873e-05 ENSE00000692050_017 ENSE00000692050 017 8 41563631 41563800 - 30 99 41 C G 41563722 989 79 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGCCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706203 41706204 41706204 exon 38 0.383838383838384 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGCCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 99 912 1 0.999455672453066 0.999727836226533 NA NA 0.98033994220381 0.994635727707107 NA NA 0.0196600577961898 0.00481994474595926 NA 0.987487834955459 NA 0.0122400012710746 NA FALSE NA 0.999 4.898 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 18/43 COSM1457101&COSM1457100 1 deleterious(0.03) probably_damaging(0.956) NA GCC C,G 8.236e-06 8:41706204 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 missense_variant 5.792143 0.96655 0.96514 0.615465 0.998433109338495 0 0.999999999957629 TRUE 4.06253e-06 ENSE00000692050_018 ENSE00000692050 018 8 41563631 41563800 - 30 99 41 T C 41563730 990 71 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCGCAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706211 41706212 41706212 exon 30 0.303030303030303 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCGCAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 276 1022 1 0.99798291851455 0.998991459257275 NA NA 0.98033994220381 0.994635727707107 NA NA 0.0196600577961898 0.00334719080744328 NA 0.987487834955459 NA 0.0115036243018166 NA FALSE NA 0.997 0.483 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 18/43 1 NA GTG T,C 8.236e-06 8:41706212 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 synonymous_variant 0.460157 0.92031 0.82388 0.615465 0.697863287930651 0 0.999999999957629 TRUE 4.06213e-06 ENSE00000692050_019 ENSE00000692050 019 8 41563631 41563800 - 30 99 41 G A 41563747 991 54 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTTCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706228 41706229 41706229 exon 13 0.131313131313131 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTTCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 106 628 1 1 1 NA NA 0.98033994220381 0.994635727707107 NA NA 0.0196600577961898 0.00536427229289282 NA 0.987487834955459 NA 0.0125121650445413 NA FALSE NA 1 7.9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:41706229 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 missense_variant 4.556698 0.97667 0.97596 0.615465 0.998786136747176 0 0.999999999957629 TRUE 1.21913e-05 ENSE00000692050_020 ENSE00000692050 020 8 41563631 41563800 - 30 99 41 G C 41563747 992 54 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTGCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706228 41706229 41706229 exon 13 0.131313131313131 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTGCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 1066 545 0.972745660191089 0.986862114982566 0.979803887586828 NA NA 0.98033994220381 0.994635727707107 NA NA -0.00759428201272083 -0.00777361272454069 NA 0.987487834955459 NA -0.00768394736863076 NA FALSE NA 1 7.9 NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00000692050 missense_variant 3.897143 0.97759 0.98151 0.615465 0.995413999850133 0 0.999999999957629 TRUE 4.06375e-06 ENSE00000692050_021 ENSE00000692050 021 8 41563631 41563800 - 30 99 41 C T 41563756 993 45 ACAGACTGAAGTTCCGGCTGCCTGCCTTACCCGGGTGGTGGCGTCCACCATGACGCCGTGTTTGATCAGCACATCTGCCACTGGAACGTGGCCTTCTTGTGCTACCAGATGGAGGGGAGTGAGTCTGCTCTGCAAAGAAAAAGACGTTCATCACCTTCTATCAAGTAAAG 41706112 41706282 41706237 41706238 41706238 exon 4 0.0404040404040404 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCAGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 55 180 0 0 0 NA NA 0.98033994220381 0.994635727707107 NA NA -0.98033994220381 -0.994635727707107 NA 0.987487834955459 NA -0.987487834955459 NA TRUE NA 1 5.86 rs182432615 missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 18/43 rs182432615 1 deleterious(0) probably_damaging(0.987) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCG C,T 8.236e-06 8:41706238 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 missense_variant 7.233205 0.964 0.9631 0.615465 0.999333447952191 0 0.999999999957629 TRUE NA ENSE00000692050_022 ENSE00000692050 022 8 41563631 41563800 - 30 99 41 G A 41563757 994 44 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGTGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706238 41706239 41706239 exon 3 0.0303030303030303 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGTGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 707 48 0.850102004811457 0.97239974725621 0.911250876033834 NA NA 0.98033994220381 0.994635727707107 NA NA -0.130237937392353 -0.0222359804508969 NA 0.987487834955459 NA -0.076236958921625 NA FALSE NA 0.98 0.461 . splice_region_variant&synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 18/43 1 NA CGC G,A 8.236e-06 8:41706239 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 splice_region_variant 1.659884 0.87361 0.37842 0.615465 0.86244004378087 0 0.999999999957629 TRUE 1.222e-05 ENSE00000692050_024 ENSE00000692050 024 8 41563631 41563800 - 30 99 41 G A 41563762 996 39 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGTAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 41706243 41706244 41706244 upstr_intron -3 -0.0487804878048781 CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGTAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 810 18 0.0187465757864578 0.018373881288337 0.0185602285373974 NA NA 0.98033994220381 0.994635727707107 NA NA -0.961593366417352 -0.97626184641877 NA 0.987487834955459 NA -0.968927606418061 NA TRUE NA 1 6.537 . splice_region_variant&intron_variant LOW ANK1 HGNC 492 ENST00000265709 17/42 1 NA TGC G,A 3.295e-05 8:41706244 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 splice_region_variant 1.836333 0.96357 0.9622 0.06567 0.956886007669988 0.868124 0.999999999957629 TRUE 1.63155e-05 ENSE00000692050_027 ENSE00000692050 027 8 41563631 41563800 - 30 99 41 C T 41563775 999 26 ACAGACTGAAGTTCCGGCTGCCTGCCTTACCCGGGTGGTGGCGTCCACCATGACGCCGTGTTTGATCAGCACATCTGCCACTGGAACGTGGCCTTCTTGTGCTACCAGATGGAGGGGAGTGAGTCCGCTCTGCAAAGAAAAAGATGTTCATCACCTTCTATCAAGTAAAG 41706112 41706282 41706256 41706257 41706257 upstr_intron -16 -0.365853658536585 CTTTACTTGATAGAAGGTGATGAACATCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT mutant NA NA NA NA NA 23 301 0.95 0.964993282187745 0.957496641093872 NA NA 0.98033994220381 0.994635727707107 NA NA -0.0303399422038103 -0.0296424455193625 NA 0.987487834955459 NA -0.0299911938615864 NA FALSE NA 0 -2.073 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 17/42 rs368447168 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 ACG C,T 1.648e-05 8:41706257 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00000692050 intron_variant -0.935401 0.15668 0.03665 0.06567 0.533377067725202 0.0476976 0.999999999957629 TRUE 2.07228e-05 ENSE00000692050_BRK ENSE00000692050 BRK 8 41563631 41563800 - 30 99 41 A,G; T,T NA NA NA CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCTTAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGCCAAGGCAGGCAGCCGGAACTTCAGTCTGT 41706112 41706282 NA NA NA NA NA NA CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCTTAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGCCAAGGCAGGCAGCCGGAACTTCAGTCTGT CTTTACTTGATAGAAGGTGATGAACGTCTTTTTCTTTGCAGAGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCACGTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGGGTAAGGCAGGCAGCCGGAACTTCAGTCTGT control NA NA NA NA NA 479 1201 0 0 0 NA NA 0.98033994220381 0.994635727707107 NA NA -0.98033994220381 -0.994635727707107 NA 0.987487834955459 NA -0.987487834955459 NA TRUE NA NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00000692050 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00000692813_000 ENSE00000692813 000 15 63634169 63634338 - 32 96 42 NA NA NA NA NA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 NA NA NA NA NA NA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA natural 728 999 0.865688568699594 0.860251513951357 0.862970041325476 4170 7384 0.804640113344448 0.862403830731905 0.833521972038176 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 0 0 0 0 0.862970041325476 0.833521972038176 0 0 0 FALSE FALSE NA NA NA NA NA CA12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA12 NA NA NA ENSG00000074410 ENSE00000692813 NA NA NA NA NA NA NA 9.91295957492359e-09 FALSE NA ENSE00000692813_001 ENSE00000692813 001 15 63634169 63634338 - 32 96 42 A G 63634192 1269 147 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGACATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63341992 63341993 63341993 downstr_intron 9 1.29032258064516 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGACATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 24 28 0.85 0.85 0.85 NA NA NA NA NA 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0156885686995936 -0.0102515139513574 NA NA 0.862970041325476 0.833521972038176 -0.0129700413254755 NA NA NA FALSE 0 -0.447 . intron_variant MODIFIER CA12 HGNC 1371 ENST00000344366 5/9 rs376673728 1 NA G:0.0002 G:0 TAT A,G 8.236e-06 15:63341993 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 intron_variant 0.302921 0.23124 0.05454 0.074388 0.69117460273474 0.19352 9.91295957492359e-09 FALSE 4.06904e-06 ENSE00000692813_002 ENSE00000692813 002 15 63634169 63634338 - 32 96 42 C T 63634203 1270 136 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTAAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342003 63342004 63342004 exon -3 0.979166666666667 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTAAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 131 289 0.85 0.756364567138988 0.803182283569494 NA NA NA NA NA 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0156885686995935 -0.10388694681237 NA NA 0.862970041325476 0.833521972038176 -0.0597877577559816 NA NA NA FALSE 1 5.616 . missense_variant&splice_region_variant MODERATE CA12 HGNC 1371 ENST00000344366 5/10 1 deleterious(0.04) possibly_damaging(0.737) NA TCA C,T 1.647e-05 15:63342004 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 missense_variant 6.614867 0.97641 0.96976 0.615465 0.999017450389512 0 9.91295957492359e-09 FALSE 4.06405e-06 ENSE00000692813_003 ENSE00000692813 003 15 63634169 63634338 - 32 96 42 A G 63634205 1271 134 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCACTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342005 63342006 63342006 exon -5 0.958333333333333 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCACTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 85 127 0.85 0.85 0.85 NA NA NA NA NA 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0156885686995936 -0.0102515139513574 NA NA 0.862970041325476 0.833521972038176 -0.0129700413254755 NA NA NA FALSE 1 8.772 . missense_variant MODERATE CA12 HGNC 1371 ENST00000344366 5/10 1 deleterious(0) probably_damaging(0.943) NA AAT A,G 3.295e-05 15:63342006 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 missense_variant 5.537472 0.97312 0.98771 0.615465 0.997236594211915 0 9.91295957492359e-09 FALSE 1.62525e-05 ENSE00000692813_004 ENSE00000692813 004 15 63634169 63634338 - 32 96 42 A G 63634213 1272 126 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCCGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342013 63342014 63342014 exon -13 0.875 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCCGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 19 22 0.85 0.937833604561775 0.893916802280888 12 313 0.914477731842144 0.800461334478099 0.857469533160122 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0156885686995936 0.0775820906104178 0.109837618497696 -0.0619424962538052 0.862970041325476 0.833521972038176 0.0309467609554121 0.0239475611219455 0.00699919983346659 FALSE FALSE 0.888 0.059 . synonymous_variant LOW CA12 HGNC 1371 ENST00000344366 5/10 1 NA CAG A,G 8.236e-06 15:63342014 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 synonymous_variant -1.006942 0.90797 0.80208 0.615465 0.502672024965283 0 9.91295957492359e-09 FALSE 4.06246e-06 ENSE00000692813_005 ENSE00000692813 005 15 63634169 63634338 - 32 96 42 A C 63634222 1273 117 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCGGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342022 63342023 63342023 exon -22 0.78125 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCGGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant NA NA NA NA NA 23 267 0.806983337490262 0.800540826478386 0.803762081984324 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 NA NA 0.00234322414581389 -0.0618630042535188 0.862970041325476 0.833521972038176 NA -0.0297598900538524 NA FALSE NA 0.001 -1.298 . synonymous_variant LOW CA12 HGNC 1371 ENST00000344366 5/10 1 NA CAG A,C 8.236e-06 15:63342023 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 synonymous_variant -0.905266 0.6995 0.24923 0.615465 0.616151899734512 0 9.91295957492359e-09 FALSE 4.062e-06 ENSE00000692813_006 ENSE00000692813 006 15 63634169 63634338 - 32 96 42 C T 63634224 1274 115 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCACTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342024 63342025 63342025 exon -24 0.760416666666667 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCACTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 10 11 0.85 0.85 0.85 NA NA NA NA NA 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0156885686995936 -0.0102515139513574 NA NA 0.862970041325476 0.833521972038176 -0.0129700413254755 NA NA NA FALSE 1 7.331 . missense_variant MODERATE CA12 HGNC 1371 ENST00000344366 5/10 rs369979536 1 deleterious(0) probably_damaging(1) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0001 GCG C,T 5.765e-05 15:63342025 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 missense_variant 6.859627 0.97641 0.98434 0.615465 0.999314550632067 0 9.91295957492359e-09 FALSE 4.46824e-05 ENSE00000692813_008 ENSE00000692813 008 15 63634169 63634338 - 32 96 42 C T 63634253 1276 86 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAACACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342053 63342054 63342054 exon 44 0.458333333333333 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAACACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 43 104 0.810787102380359 0.85 0.83039355119018 1210 398 0.950439964990307 0.939784416634442 0.945112190812374 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0549014663192342 -0.0102515139513575 0.145799851645859 0.077380585902537 0.862970041325476 0.833521972038176 -0.0325764901352958 0.111590218774198 0.144166708909494 FALSE FALSE 0.016 1.954 . missense_variant MODERATE CA12 HGNC 1371 ENST00000344366 5/10 rs372491288 1 tolerated(0.1) benign(0.003) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 GCT C,T 1.647e-05 15:63342054 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 missense_variant 1.749812 0.36035 0.19253 0.615465 0.967240624650378 0 9.91295957492359e-09 FALSE NA ENSE00000692813_009 ENSE00000692813 009 15 63634169 63634338 - 32 96 42 C T 63634257 1277 82 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACACCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342057 63342058 63342058 exon 40 0.416666666666667 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACACCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 63 32 0.0207413714429938 0 0.0103706857214969 40 11 0.81201822501539 0.707505906397768 0.759762065706579 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.8449471972566 -0.860251513951357 0.00737811167094227 -0.154897924334137 0.862970041325476 0.833521972038176 -0.852599355603979 -0.0737599063315973 0.778839449272381 FALSE TRUE 0 -0.069 . missense_variant MODERATE CA12 HGNC 1371 ENST00000344366 5/10 rs569522889 1 tolerated(0.13) benign(0.042) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C,T 9.06e-05 15:63342058 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 missense_variant 1.592997 0.28016 0.08388 0.615465 0.969460220924599 0 9.91295957492359e-09 FALSE 8.53083e-05 ENSE00000692813_010 ENSE00000692813 010 15 63634169 63634338 - 32 96 42 G A 63634258 1278 81 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGATGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342058 63342059 63342059 exon 39 0.40625 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGATGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 31 35 0.85 0.85 0.85 NA NA NA NA NA 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0156885686995936 -0.0102515139513574 NA NA 0.862970041325476 0.833521972038176 -0.0129700413254755 NA NA NA FALSE 0 -0.294 rs141065029 synonymous_variant LOW CA12 HGNC 1371 ENST00000344366 5/10 rs141065029 1 NA A:0 A:0.0001 CGT G,A 9.884e-05 15:63342059 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 synonymous_variant -0.056714 0.21648 0.05447 0.615465 0.500635439121218 0 9.91295957492359e-09 FALSE 9.74952e-05 ENSE00000692813_011 ENSE00000692813 011 15 63634169 63634338 - 32 96 42 A G 63634264 1279 75 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTACCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342064 63342065 63342065 exon 33 0.34375 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTACCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 72 77 0.786595198850458 0.821366229468864 0.803980714159661 114 15 0.801412546551213 0.826091713609069 0.813752130080141 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0790933698491354 -0.0388852844824932 -0.00322756679323521 -0.0363121171228354 0.862970041325476 0.833521972038176 -0.0589893271658143 -0.0197698419580353 0.039219485207779 FALSE FALSE 0.953 0.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:63342065 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 synonymous_variant -0.634442 0.83638 0.20249 0.615465 0.70669969396814 0 9.91295957492359e-09 FALSE 7.71799e-05 ENSE00000692813_012 ENSE00000692813 012 15 63634169 63634338 - 32 96 42 A T 63634264 1280 75 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTAACCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342064 63342065 63342065 exon 33 0.34375 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTAACCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 60 43 0.85 0.85 0.85 NA NA NA NA NA 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0156885686995936 -0.0102515139513574 NA NA 0.862970041325476 0.833521972038176 -0.0129700413254755 NA NA NA FALSE 0.953 0.1 NA NA NA CA12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA12 NA NA NA ENSG00000074410 ENSE00000692813 stop_gained 8.287602 0.89903 0.73771 0.615465 0.994792271991371 0 9.91295957492359e-09 FALSE 4.0621e-06 ENSE00000692813_013 ENSE00000692813 013 15 63634169 63634338 - 32 96 42 G A 63634270 1281 69 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGATCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342070 63342071 63342071 exon 27 0.28125 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGATCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant NA NA NA NA NA 74 228 0.771787341148544 0.800633351474037 0.78621034631129 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 NA NA -0.0328527721959041 -0.0617704792578678 0.862970041325476 0.833521972038176 NA -0.047311625726886 NA FALSE NA 1 1.017 . synonymous_variant LOW CA12 HGNC 1371 ENST00000344366 5/10 rs372746181 1 NA A:0 A:0.0001 GGT G,A 8.236e-06 15:63342071 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 synonymous_variant 1.389895 0.93724 0.79521 0.615465 0.812803934985983 0 9.91295957492359e-09 FALSE 4.06309e-06 ENSE00000692813_015 ENSE00000692813 015 15 63634169 63634338 - 32 96 42 A G 63634282 1283 57 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCACTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342082 63342083 63342083 exon 15 0.15625 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCACTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 11 16 0.85 0.85 0.85 624 134 0.977444734558303 0.977042476562678 0.97724360556049 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0156885686995936 -0.0102515139513574 0.172804621213855 0.114638645830773 0.862970041325476 0.833521972038176 -0.0129700413254755 0.143721633522314 0.15669167484779 FALSE FALSE 0.968 0.25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:63342083 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 synonymous_variant 0.660157 0.90948 0.63975 0.615465 0.80474208082673 0 9.91295957492359e-09 FALSE 8.1316e-06 ENSE00000692813_016 ENSE00000692813 016 15 63634169 63634338 - 32 96 42 T C 63634290 1284 49 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACGTTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342090 63342091 63342091 exon 7 0.0729166666666667 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACGTTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant NA NA NA NA NA 40 20 0.898641409761883 1 0.949320704880942 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 NA NA 0.094001296417435 0.137596169268095 0.862970041325476 0.833521972038176 NA 0.115798732842765 NA FALSE NA 0.975 1.362 NA NA NA CA12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:63342091 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 missense_variant 1.482771 0.91762 0.77251 0.615465 0.966948074480852 0 9.91295957492359e-09 FALSE 8.13802e-06 ENSE00000692813_019 ENSE00000692813 019 15 63634169 63634338 - 32 96 42 G T 63634304 1287 35 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCAACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342104 63342105 63342105 upstr_intron -8 -0.166666666666667 GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCAACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant NA NA NA NA NA 212 36 0.802277821796402 0.8 0.801138910898201 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 NA NA -0.00236229154804579 -0.0624038307319045 0.862970041325476 0.833521972038176 NA -0.0323830611399751 NA FALSE NA 0.003 0.024 . splice_region_variant&intron_variant LOW CA12 HGNC 1371 ENST00000344366 4/9 1 NA TGG G,T 8.237e-06 15:63342105 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 splice_region_variant -0.611627 0.27132 0.21737 0.053691 0.487804483903257 0.208969 9.91295957492359e-09 FALSE NA ENSE00000692813_021 ENSE00000692813 021 15 63634169 63634338 - 32 96 42 C A 63634319 1289 20 GAGTCGCTTATCTCCTAATTGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342119 63342120 63342120 upstr_intron -23 -0.523809523809524 GAGTCGCTTATCTCCTAATTGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant NA NA NA NA NA 60 93 0.99931208389306 0.997462277078719 0.99838718048589 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 NA NA 0.194671970548613 0.135058446346815 0.862970041325476 0.833521972038176 NA 0.164865208447714 NA FALSE NA 0 -0.407 . intron_variant MODIFIER CA12 HGNC 1371 ENST00000344366 4/9 1 NA CCA C,A 8.237e-06 15:63342120 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 intron_variant 0.407818 0.24057 0.06065 0.053691 0.533569461285333 0.191061 9.91295957492359e-09 FALSE NA ENSE00000692813_022 ENSE00000692813 022 15 63634169 63634338 - 32 96 42 G A 63634327 1290 12 GAGTCGCTTATTTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 63342127 63342128 63342128 upstr_intron -31 -0.714285714285714 GAGTCGCTTATTTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA mutant 232 268 0.84763376915635 0.85 0.848816884578175 NA NA NA NA NA 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.0180547995432434 -0.0102515139513574 NA NA 0.862970041325476 0.833521972038176 -0.0141531567473004 NA NA NA FALSE 0 -0.52 . intron_variant MODIFIER CA12 HGNC 1371 ENST00000344366 4/9 1 NA AGA G,A 8.238e-06 15:63342128 CA12 HGNC Symbol protein_coding 60783 ENSG00000074410 ENSE00000692813 intron_variant 0.111701 0.21344 0.06132 0.053691 0.540543991884214 0.191061 9.91295957492359e-09 FALSE NA ENSE00000692813_BRK ENSE00000692813 BRK 15 63634169 63634338 - 32 96 42 A,G; T,T NA NA NA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCTTCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGCCAAGAGATATTTAAAAGGTTCTTAGGTGAAA 63341969 63342139 NA NA NA NA NA NA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCTTCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGCCAAGAGATATTTAAAAGGTTCTTAGGTGAAA GAGTCGCTTATCTCCTAATGGGTGGCTTCTCCCCCACTGCAGCTGCACATTGTCCATTATAACTCAGACCTTTATCCTGACGCCAGCACTGCCAGCAACAAGTCAGAAGGCCTCGCTGTCCTGGCTGTTCTCATTGAGGTAAGAGATATTTAAAAGGTTCTTAGGTGAAA control 154 70 0.0984849248622316 0.20985837932724 0.154171652094736 NA NA NA NA NA 0.865688568699594 0.860251513951357 0.804640113344448 0.862403830731905 -0.767203643837362 -0.650393134624117 NA NA 0.862970041325476 0.833521972038176 -0.70879838923074 NA NA NA TRUE NA NA NA NA NA CA12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA12 NA NA NA ENSG00000074410 ENSE00000692813 NA NA NA NA NA NA NA 9.91295957492359e-09 FALSE NA ENSE00000694349_000 ENSE00000694349 000 16 74501621 74501790 - 33 93 44 NA NA NA NA NA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 NA NA NA NA NA NA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA natural NA NA NA NA NA 1868 2813 0.916300457412029 0.980186057948698 0.948243257680364 NA NA 0.916300457412029 0.980186057948698 NA NA 0 0 NA 0.948243257680364 NA 0 NA FALSE NA NA NA NA NA NA GLG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLG1 NA NA NA ENSG00000090863 ENSE00003570373 NA NA NA NA NA NA NA 0.997711423693009 TRUE NA ENSE00000694349_001 ENSE00000694349 001 16 74501621 74501790 - 33 93 44 G C 74501637 2802 154 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTGTTTTGTAATTGTAAAA 74467722 74467892 74467738 74467739 74467739 downstr_intron 17 1.53125 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTGTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 592 246 1 0.995383654841411 0.997691827420706 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0836995425879712 0.0151975968927129 NA 0.948243257680364 NA 0.0494485697403421 NA FALSE NA 0 -2.16 . intron_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/26 1 NA AGA G,C 8.236e-06 16:74467739 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 intron_variant -0.671215 0.07131 0.00261 0.139865 0.630946803128189 0.0689526 0.997711423693009 TRUE 4.17896e-06 ENSE00000694349_002 ENSE00000694349 002 16 74501621 74501790 - 33 93 44 A C 74501638 2803 153 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTGCTTTTGTAATTGTAAAA 74467722 74467892 74467739 74467740 74467740 downstr_intron 16 1.5 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTGCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 1108 126 0.998692726230812 1 0.999346363115406 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0823922688187829 0.0198139420513016 NA 0.948243257680364 NA 0.0511031054350423 NA FALSE NA 0.003 -0.087 . intron_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/26 rs368216591 1 NA C:0 C:0.0001 GAA A,C 8.236e-06 16:74467740 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 intron_variant -0.292278 0.1799 0.12617 0.139865 0.556547732543089 0.0689526 0.997711423693009 TRUE 4.17645e-06 ENSE00000694349_003 ENSE00000694349 003 16 74501621 74501790 - 33 93 44 A G 74501639 2804 152 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTCTCTTTTGTAATTGTAAAA 74467722 74467892 74467740 74467741 74467741 downstr_intron 15 1.46875 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTCTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant 46 114 0.554319394463982 0.593270598992137 0.57379499672806 451 469 1 0.999662639299656 0.999831319649828 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0836995425879712 0.0194765813509578 NA 0.948243257680364 NA 0.0515880619694645 NA FALSE NA 0.024 1.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:74467741 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 intron_variant 0.937636 0.27585 0.42633 0.139865 0.702172540582979 0.170489 0.997711423693009 TRUE 8.35115e-06 ENSE00000694349_004 ENSE00000694349 004 16 74501621 74501790 - 33 93 44 A C 74501639 2805 152 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTGTCTTTTGTAATTGTAAAA 74467722 74467892 74467740 74467741 74467741 downstr_intron 15 1.46875 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTGTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 294 1090 1 0.985982950291431 0.992991475145715 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0836995425879712 0.00579689234273217 NA 0.948243257680364 NA 0.0447482174653517 NA FALSE NA 0.024 1.45 NA NA NA GLG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLG1 NA NA NA ENSG00000090863 ENSE00003570373 intron_variant 0.69299 0.34078 0.59909 0.139865 0.699254479629895 0.170489 0.997711423693009 TRUE 2.50534e-05 ENSE00000694349_005 ENSE00000694349 005 16 74501621 74501790 - 33 93 44 A G 74501646 2806 145 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTCTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467747 74467748 74467748 downstr_intron 8 1.25 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTCTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 1235 218 0.997745756268925 0.996430337267907 0.997088046768416 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0814452988568967 0.0162442793192089 NA 0.948243257680364 NA 0.0488447890880528 NA FALSE NA 0 -0.663 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GLG1 HGNC 4316 ENST00000562090 19/26 1 NA AAA A,G 8.236e-06 16:74467748 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 splice_region_variant 0.389293 0.20121 0.06482 0.139865 0.757752287663812 0.170489 0.997711423693009 TRUE 4.16306e-06 ENSE00000694349_006 ENSE00000694349 006 16 74501621 74501790 - 33 93 44 A G 74501657 2807 134 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCCCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467758 74467759 74467759 exon -4 0.967741935483871 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCCCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 309 449 0.870258382075086 0.996816572003929 0.933537477039508 NA NA 0.916300457412029 0.980186057948698 NA NA -0.0460420753369432 0.0166305140552309 NA 0.948243257680364 NA -0.0147057806408561 NA FALSE NA 0.718 -0.053 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/27 1 NA GAG A,G 8.236e-06 16:74467759 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 synonymous_variant 1.325509 0.61087 0.52966 0.722319 0.65776213151145 0 0.997711423693009 TRUE 4.08791e-06 ENSE00000694349_007 ENSE00000694349 007 16 74501621 74501790 - 33 93 44 G A 74501660 2808 131 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAATGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467761 74467762 74467762 exon -7 0.935483870967742 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAATGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 253 191 1 1 1 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0836995425879712 0.0198139420513016 NA 0.948243257680364 NA 0.0517567423196364 NA FALSE NA 0.986 0.403 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/27 rs373580952 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGT G,A 7.413e-05 16:74467762 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 synonymous_variant 1.424417 0.96883 0.48087 0.722319 0.825695197386271 0 0.997711423693009 TRUE 4.49556e-05 ENSE00000694349_008 ENSE00000694349 008 16 74501621 74501790 - 33 93 44 C T 74501677 2809 114 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCACTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467778 74467779 74467779 exon -24 0.752688172043011 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCACTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 351 137 0.810591918900146 0.999721729059587 0.905156823979866 NA NA 0.916300457412029 0.980186057948698 NA NA -0.105708538511883 0.0195356711108885 NA 0.948243257680364 NA -0.0430864337004971 NA FALSE NA 0.986 1.125 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:74467779 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 missense_variant 1.623139 0.63231 0.18877 0.722319 0.841284247425772 0 0.997711423693009 TRUE 4.06782e-05 ENSE00000694349_009 ENSE00000694349 009 16 74501621 74501790 - 33 93 44 C A 74501677 2810 114 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCTCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467778 74467779 74467779 exon -24 0.752688172043011 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCTCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 1716 898 0.997889017269 1 0.9989445086345 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0815885598569714 0.0198139420513016 NA 0.948243257680364 NA 0.0507012509541365 NA FALSE NA 0.986 1.125 NA NA NA GLG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLG1 NA NA NA ENSG00000090863 ENSE00003570373 missense_variant 1.621045 0.75736 0.77442 0.722319 0.879557101753295 0 0.997711423693009 TRUE 1.62713e-05 ENSE00000694349_010 ENSE00000694349 010 16 74501621 74501790 - 33 93 44 G A 74501678 2811 113 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCTGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467779 74467780 74467780 exon -25 0.741935483870968 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCTGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 71 293 1 1 1 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0836995425879712 0.0198139420513016 NA 0.948243257680364 NA 0.0517567423196364 NA FALSE NA 0.932 0.094 rs140610600 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/27 rs140610600 1 NA A:0 A:0.0001 CGG G,A 5.765e-05 16:74467780 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 synonymous_variant 1.354618 0.63271 0.66349 0.722319 0.827425919713978 0 0.997711423693009 TRUE 3.25412e-05 ENSE00000694349_011 ENSE00000694349 011 16 74501621 74501790 - 33 93 44 G T 74501684 2812 107 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTATGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467785 74467786 74467786 exon -31 0.67741935483871 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTATGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 523 118 0.992292485793783 0.982007925586549 0.987150205690166 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0759920283817543 0.00182186763785075 NA 0.948243257680364 NA 0.0389069480098025 NA FALSE NA 1 1.765 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/27 1 NA AGA G,T 8.236e-06 16:74467786 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 missense_variant 2.11104 0.97977 0.94094 0.722319 0.977929931321217 0 0.997711423693009 TRUE 4.0662e-06 ENSE00000694349_013 ENSE00000694349 013 16 74501621 74501790 - 33 93 44 G A 74501714 2814 77 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATATGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467815 74467816 74467816 exon 33 0.354838709677419 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATATGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 2065 424 0.993650921751243 1 0.996825460875621 NA NA 0.916300457412029 0.980186057948698 NA NA 0.077350464339214 0.0198139420513016 NA 0.948243257680364 NA 0.0485822031952578 NA FALSE NA 0.987 0.383 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/27 1 NA CGT G,A 8.236e-06 16:74467816 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 synonymous_variant -0.155442 0.89085 0.40923 0.722319 0.799540295949947 0 0.997711423693009 TRUE 1.22e-05 ENSE00000694349_014 ENSE00000694349 014 16 74501621 74501790 - 33 93 44 T C 74501717 2815 74 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTGTACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467818 74467819 74467819 exon 30 0.32258064516129 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTGTACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 970 651 0.995215342568732 0.999756985518803 0.997486164043768 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0789148851567034 0.0195709275701044 NA 0.948243257680364 NA 0.0492429063634039 NA FALSE NA 0.61 -0.164 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/27 1 NA ATA T,C 1.647e-05 16:74467819 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 synonymous_variant -0.920661 0.18449 0.0862 0.722319 0.30252925964817 0 0.997711423693009 TRUE 2.44012e-05 ENSE00000694349_015 ENSE00000694349 015 16 74501621 74501790 - 33 93 44 G T 74501719 2816 72 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATATATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467820 74467821 74467821 exon 28 0.301075268817204 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATATATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 553 94 0.988111063938029 0.998313782914738 0.993212423426384 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0718106065260004 0.0181277249660396 NA 0.948243257680364 NA 0.04496916574602 NA FALSE NA 1 3.631 rs145619068 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/27 rs145619068 1 NA C:0 C:0.0001 AGA G,T 8.236e-06 16:74467821 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 missense_variant 4.620944 0.98593 0.97908 0.722319 0.995728320591088 0 0.997711423693009 TRUE 4.06918e-06 ENSE00000694349_016 ENSE00000694349 016 16 74501621 74501790 - 33 93 44 C T 74501722 2817 69 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAAATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467823 74467824 74467824 exon 25 0.268817204301075 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAAATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 115 401 0.937904696959997 0.999905039072019 0.968904868016008 NA NA 0.916300457412029 0.980186057948698 NA NA 0.021604239547968 0.0197189811233204 NA 0.948243257680364 NA 0.0206616103356442 NA FALSE NA 1 7.372 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 19/27 1 NA TCT C,T 1.647e-05 16:74467824 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 missense_variant 2.58616 0.99597 0.99169 0.722319 0.982728328024709 0 0.997711423693009 TRUE 1.62798e-05 ENSE00000694349_017 ENSE00000694349 017 16 74501621 74501790 - 33 93 44 C T 74501744 2818 47 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACAGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467845 74467846 74467846 exon 3 0.032258064516129 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACAGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 238 231 0.984507876898735 0.98817911212023 0.986343494509482 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0682074194867058 0.00799305417153118 NA 0.948243257680364 NA 0.0381002368291185 NA FALSE NA 0.008 -1.367 rs138233390 splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW GLG1 HGNC 4316 ENST00000562090 19/27 rs138233390 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 4.118e-05 16:74467846 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 splice_region_variant 0.588322 0.90138 0.06502 0.722319 0.699967298600471 0 0.997711423693009 TRUE 6.53803e-05 ENSE00000694349_019 ENSE00000694349 019 16 74501621 74501790 - 33 93 44 T C 74501752 2820 39 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCGTGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467853 74467854 74467854 upstr_intron -6 -0.113636363636364 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCGTGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 421 301 0.997230374771069 1 0.998615187385534 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0809299173590402 0.0198139420513016 NA 0.948243257680364 NA 0.0503719297051709 NA FALSE NA 0 -3.112 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GLG1 HGNC 4316 ENST00000562090 18/26 1 NA ATG T,C 2.471e-05 16:74467854 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 splice_region_variant -0.734606 0.13571 0.00998 0.099367 0.473454412730401 0.250709 0.997711423693009 TRUE 2.88619e-05 ENSE00000694349_020 ENSE00000694349 020 16 74501621 74501790 - 33 93 44 G A 74501753 2821 38 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTTATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467854 74467855 74467855 upstr_intron -7 -0.136363636363636 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTTATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 358 256 0.998262823295786 0.999552771751974 0.99890779752388 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0819623658837573 0.0193667138032756 NA 0.948243257680364 NA 0.0506645398435164 NA FALSE NA 0.002 0.904 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GLG1 HGNC 4316 ENST00000562090 18/26 1 NA TGA G,A 1.647e-05 16:74467855 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 splice_region_variant 0.229743 0.32473 0.13033 0.099367 0.531295672422859 0.179891 0.997711423693009 TRUE 8.26016e-06 ENSE00000694349_021 ENSE00000694349 021 16 74501621 74501790 - 33 93 44 A T 74501754 2822 37 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCACATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467855 74467856 74467856 upstr_intron -8 -0.159090909090909 AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCACATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 1636 1364 0.999166918403431 1 0.999583459201715 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0828664609914019 0.0198139420513016 NA 0.948243257680364 NA 0.0513402015213518 NA FALSE NA 0.004 0.965 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GLG1 HGNC 4316 ENST00000562090 18/26 1 NA GAG A,T 8.236e-06 16:74467856 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 splice_region_variant -0.123615 0.29835 0.18287 0.099367 0.546806626200017 0.179891 0.997711423693009 TRUE 8.27527e-06 ENSE00000694349_023 ENSE00000694349 023 16 74501621 74501790 - 33 93 44 G A 74501759 2824 32 AGCCTAAACCAAGCTCACCTTTCCATGCTGGTTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467860 74467861 74467861 upstr_intron -13 -0.272727272727273 AGCCTAAACCAAGCTCACCTTTCCATGCTGGTTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 399 1162 0.898502414126018 0.998579148123294 0.948540781124656 NA NA 0.916300457412029 0.980186057948698 NA NA -0.0177980432860113 0.0183930901745952 NA 0.948243257680364 NA 0.000297523444291958 NA FALSE NA 0.006 0.099 . intron_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 18/26 1 NA AGC G,A 8.236e-06 16:74467861 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 non_coding_transcript_exon_variant 0.427243 0.42454 0.05708 0.099367 0.614479966866214 0.164922 0.997711423693009 TRUE 4.1598e-06 ENSE00000694349_025 ENSE00000694349 025 16 74501621 74501790 - 33 93 44 G A 74501772 2826 19 AGCCTAAACCAAGCTCACTTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467873 74467874 74467874 upstr_intron -26 -0.568181818181818 AGCCTAAACCAAGCTCACTTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 397 417 0.929417973787449 1 0.964708986893724 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0131175163754201 0.0198139420513016 NA 0.948243257680364 NA 0.0164657292133609 NA FALSE NA 0.183 1.088 . intron_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 18/26 1 NA AGG G,A 8.236e-06 16:74467874 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 non_coding_transcript_exon_variant 0.516192 0.33945 0.06569 0.099367 0.674114284245236 0.104454 0.997711423693009 TRUE 4.20309e-06 ENSE00000694349_026 ENSE00000694349 026 16 74501621 74501790 - 33 93 44 G A 74501775 2827 16 AGCCTAAACCAAGCTTACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467876 74467877 74467877 upstr_intron -29 -0.636363636363636 AGCCTAAACCAAGCTTACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 1074 463 0.996700495375658 0.982783523019526 0.989742009197592 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0804000379636293 0.00259746507082714 NA 0.948243257680364 NA 0.0414987515172282 NA FALSE NA 0.029 0.474 . intron_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 18/26 1 NA TGA G,A 8.236e-06 16:74467877 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 non_coding_transcript_exon_variant 0.487536 0.26959 0.21318 0.099367 0.658687114963594 0.104454 0.997711423693009 TRUE 4.19847e-06 ENSE00000694349_027 ENSE00000694349 027 16 74501621 74501790 - 33 93 44 A T 74501776 2828 15 AGCCTAAACCAAGCACACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 74467877 74467878 74467878 upstr_intron -30 -0.659090909090909 AGCCTAAACCAAGCACACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA mutant NA NA NA NA NA 80 860 1 0.999199463166514 0.999599731583257 NA NA 0.916300457412029 0.980186057948698 NA NA 0.0836995425879712 0.0190134052178158 NA 0.948243257680364 NA 0.0513564739028935 NA FALSE NA 0.05 2.028 . intron_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 18/26 1 NA GAG A,T 8.236e-06 16:74467878 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003570373 non_coding_transcript_exon_variant 0.323069 0.33925 0.5026 0.099367 0.78063125333439 0.104454 0.997711423693009 TRUE 4.20507e-06 ENSE00000694349_BRK ENSE00000694349 BRK 16 74501621 74501790 - 33 93 44 A,G; T,T NA NA NA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCTTACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGCCAACTTTTTGCTTTTCTTTTGTAATTGTAAAA 74467722 74467892 NA NA NA NA NA NA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCTTACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGCCAACTTTTTGCTTTTCTTTTGTAATTGTAAAA AGCCTAAACCAAGCTCACCTTTCCATGCTGGCTCCCTCATGCAGACGGAGGACATCCGCTTGGAGCCAGATCTATACGAAGCCTGCAAGAGTGACATCAAAAACTTCTGTTCCGCTGTGCAATATGGCAACGCTCAGGTAACTTTTTGCTTTTCTTTTGTAATTGTAAAA control NA NA NA NA NA 1728 1120 0.00340860602696683 0.114900443806282 0.0591545249166246 NA NA 0.916300457412029 0.980186057948698 NA NA -0.912891851385062 -0.865285614142416 NA 0.948243257680364 NA -0.889088732763739 NA TRUE NA NA NA NA NA NA GLG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLG1 NA NA NA ENSG00000090863 ENSE00003570373 NA NA NA NA NA NA NA 0.997711423693009 TRUE NA ENSE00000694538_000 ENSE00000694538 000 19 30312587 30312756 + 42 96 32 NA NA NA NA NA AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 NA NA NA NA NA NA AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT natural 175 169 0.990464155356519 0.993016886946179 0.991740521151349 4413 2219 0.993624899223833 0.931959009662465 0.962791954443149 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 0 0 0 0 0.991740521151349 0.962791954443149 0 0 0 FALSE FALSE NA NA NA NA NA CCNE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCNE1 NA NA NA ENSG00000105173 ENSE00000694538 NA NA NA NA NA NA NA 0.268926805475888 FALSE NA ENSE00000694538_001 ENSE00000694538 001 19 30312587 30312756 + 42 96 32 G T 30312598 1943 12 AGATTGGCTTTTGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821690 29821691 29821691 upstr_intron -31 -0.714285714285714 AGATTGGCTTTTGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 1628 273 0.998329909528625 1 0.999164954764313 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA 0.00470501030479265 0.0680409903375349 0.991740521151349 0.962791954443149 NA 0.0363730003211638 NA FALSE NA 0.086 0.328 . intron_variant MODIFIER CCNE1 HGNC 1589 ENST00000262643 7/11 1 NA TGG G,T 8.237e-06 19:29821691 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 intron_variant 0.046545 0.09908 0.00516 0.156188 0.511475433383976 0.0529613 0.268926805475888 FALSE 4.12453e-06 ENSE00000694538_002 ENSE00000694538 002 19 30312587 30312756 + 42 96 32 G A 30312607 1944 21 AGATTGGCTTTGGTGCTAGTACCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821699 29821700 29821700 upstr_intron -22 -0.5 AGATTGGCTTTGGTGCTAGTACCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 187 336 0.98912714828181 0.999529017476866 0.994328082879338 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA -0.00449775094202221 0.0675700078144006 0.991740521151349 0.962791954443149 NA 0.0315361284361892 NA FALSE NA 0 -0.318 . intron_variant MODIFIER CCNE1 HGNC 1589 ENST00000262643 7/11 1 NA TGC G,A 8.237e-06 19:29821700 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 intron_variant 0.048143 0.16112 0.02805 0.156188 0.445527966132677 0.0687498 0.268926805475888 FALSE 2.0397e-05 ENSE00000694538_003 ENSE00000694538 003 19 30312587 30312756 + 42 96 32 T C 30312635 1945 49 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCCATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821727 29821728 29821728 exon 7 0.0729166666666667 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCCATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant 28 11 1 0.994589421475332 0.997294710737666 245 337 0.999831906156474 1 0.999915953078237 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 0.00953584464348056 0.00157253452915307 0.00620700693264087 0.0680409903375349 0.991740521151349 0.962791954443149 0.00555418958631682 0.0371239986350879 0.031569809048771 FALSE FALSE 1 7.993 . missense_variant MODERATE CCNE1 HGNC 1589 ENST00000262643 8/12 rs534391061 1 deleterious(0) probably_damaging(0.992) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTA T,C 1.647e-05 19:29821728 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 missense_variant 6.290119 0.99334 0.9899 0.732398 0.998667248458331 0 0.268926805475888 FALSE 8.12764e-06 ENSE00000694538_005 ENSE00000694538 005 19 30312587 30312756 + 42 96 32 C T 30312639 1947 53 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCTTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821731 29821732 29821732 exon 11 0.114583333333333 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCTTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 152 1306 0.996791079288016 0.999854167367179 0.998322623327597 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA 0.00316618006418368 0.0678951577047135 0.991740521151349 0.962791954443149 NA 0.0355306688844486 NA FALSE NA 1 7.751 . missense_variant MODERATE CCNE1 HGNC 1589 ENST00000262643 8/12 1 deleterious(0) probably_damaging(0.997) NA CCT C,T 8.236e-06 19:29821732 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 missense_variant 7.525857 0.99531 0.99025 0.732398 0.998570521561852 0 0.268926805475888 FALSE 4.06306e-06 ENSE00000694538_006 ENSE00000694538 006 19 30312587 30312756 + 42 96 32 G T 30312646 1948 60 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAATTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821738 29821739 29821739 exon 18 0.1875 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAATTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 83 278 1 1 1 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA 0.00637510077616732 0.0680409903375349 0.991740521151349 0.962791954443149 NA 0.0372080455568511 NA FALSE NA 1 2.908 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:29821739 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 missense_variant 6.439803 0.98702 0.97583 0.732398 0.998106998458649 0 0.268926805475888 FALSE 3.2496e-05 ENSE00000694538_007 ENSE00000694538 007 19 30312587 30312756 + 42 96 32 G A 30312646 1949 60 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAATTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821738 29821739 29821739 exon 18 0.1875 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAATTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 569 193 0.99675226303672 1 0.99837613151836 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA 0.00312736381288703 0.0680409903375349 0.991740521151349 0.962791954443149 NA 0.0355841770752109 NA FALSE NA 1 2.908 NA NA NA CCNE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCNE1 NA NA NA ENSG00000105173 ENSE00000694538 synonymous_variant 1.731329 0.9864 0.96472 0.732398 0.57903172107473 0 0.268926805475888 FALSE 8.124e-06 ENSE00000694538_009 ENSE00000694538 009 19 30312587 30312756 + 42 96 32 C T 30312660 1951 74 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGTGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821752 29821753 29821753 exon 32 0.333333333333333 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGTGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 972 190 0.990879374103317 0.983970682892145 0.987425028497731 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA -0.0027455251205154 0.0520116732296795 0.991740521151349 0.962791954443149 NA 0.024633074054582 NA FALSE NA 1 7.751 rs146187350 missense_variant MODERATE CCNE1 HGNC 1589 ENST00000262643 8/12 rs146187350&COSM1200155 1 deleterious(0) possibly_damaging(0.704) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0009 T:0 GCG C,T 7.413e-05 19:29821753 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 missense_variant 7.424357 0.99531 0.99025 0.732398 0.999024032676638 0 0.268926805475888 FALSE 5.28035e-05 ENSE00000694538_010 ENSE00000694538 010 19 30312587 30312756 + 42 96 32 G A 30312661 1952 75 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCATATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821753 29821754 29821754 exon 33 0.34375 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCATATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant 15 15 1 0.992781627766246 0.996390813883123 232 1248 1 0.999018175007817 0.999509087503909 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 0.00953584464348056 -0.000235259179933611 0.00637510077616732 0.0670591653453522 0.991740521151349 0.962791954443149 0.00465029273177348 0.0367171330607597 0.0320668403289863 FALSE FALSE 0.011 -0.758 rs137868979 synonymous_variant LOW CCNE1 HGNC 1589 ENST00000262643 8/12 rs137868979 1 NA A:0 A:0.0007 CGT G,A 0.0001318 19:29821754 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 synonymous_variant 1.481904 0.30928 0.08635 0.732398 0.532706808830843 0 0.268926805475888 FALSE 0.000138079 ENSE00000694538_012 ENSE00000694538 012 19 30312587 30312756 + 42 96 32 C T 30312703 1954 117 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACTATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821795 29821796 29821796 exon -22 0.78125 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACTATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 273 912 0.975691080981249 0.973052706617188 0.974371893799219 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA -0.0179338182425832 0.0410936969547233 0.991740521151349 0.962791954443149 NA 0.01157993935607 NA FALSE NA 0.968 0.642 . synonymous_variant LOW CCNE1 HGNC 1589 ENST00000262643 8/12 1 NA CCA C,T 8.236e-06 19:29821796 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 synonymous_variant 1.861418 0.97316 0.47903 0.732398 0.64432102876846 0 0.268926805475888 FALSE 4.06174e-06 ENSE00000694538_013 ENSE00000694538 013 19 30312587 30312756 + 42 96 32 T C 30312714 1955 128 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAACGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821806 29821807 29821807 exon -11 0.895833333333333 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAACGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 1495 218 0.993093012585768 0.997517919693012 0.99530546613939 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA -0.000531886638064805 0.0655589100305471 0.991740521151349 0.962791954443149 NA 0.0325135116962412 NA FALSE NA 0.997 3.275 . missense_variant MODERATE CCNE1 HGNC 1589 ENST00000262643 8/12 1 deleterious(0.03) benign(0.04) NA ATG T,C 8.236e-06 19:29821807 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 missense_variant 3.107704 0.98209 0.94618 0.732398 0.98022219036303 0 0.268926805475888 FALSE 4.06204e-06 ENSE00000694538_014 ENSE00000694538 014 19 30312587 30312756 + 42 96 32 A G 30312722 1956 136 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGGAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 29821814 29821815 29821815 exon -3 0.979166666666667 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGGAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 760 242 0.974499367319672 0.97909987523466 0.976799621277166 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA -0.0191255319041609 0.0471408655721945 0.991740521151349 0.962791954443149 NA 0.0140076668340168 NA FALSE NA 1 6.105 . missense_variant&splice_region_variant MODERATE CCNE1 HGNC 1589 ENST00000262643 8/12 1 deleterious(0) possibly_damaging(0.652) NA GAA A,G 8.236e-06 19:29821815 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 missense_variant 5.69529 0.9861 0.97968 0.732398 0.998416320051682 0 0.268926805475888 FALSE 8.12618e-06 ENSE00000694538_015 ENSE00000694538 015 19 30312587 30312756 + 42 96 32 G T 30312737 1957 151 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTTAATTTTCCGGCCATTTTTT 29821679 29821849 29821829 29821830 29821830 downstr_intron 13 1.41935483870968 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTTAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 76 564 1 0.995911641298116 0.997955820649058 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA 0.00637510077616732 0.0639526316356505 0.991740521151349 0.962791954443149 NA 0.0351638662059089 NA FALSE NA 0.001 0.276 . intron_variant MODIFIER CCNE1 HGNC 1589 ENST00000262643 8/11 rs556837498 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TGA G,T 4.942e-05 19:29821830 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 non_coding_transcript_exon_variant -0.442388 0.18696 0.00305 0.156188 0.442727003477003 0.045699 0.268926805475888 FALSE 5.29062e-05 ENSE00000694538_016 ENSE00000694538 016 19 30312587 30312756 + 42 96 32 C T 30312745 1958 159 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCTGGCCATTTTTT 29821679 29821849 29821837 29821838 29821838 downstr_intron 21 1.67741935483871 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCTGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 267 107 1 0.998519051821347 0.999259525910673 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA 0.00637510077616732 0.0665600421588817 0.991740521151349 0.962791954443149 NA 0.0364675714675245 NA FALSE NA 0 -0.619 . intron_variant MODIFIER CCNE1 HGNC 1589 ENST00000262643 8/11 rs201899472 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0002 CCG C,T 1.647e-05 19:29821838 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 non_coding_transcript_exon_variant 0.240533 0.20497 0.08083 0.156188 0.432235754105649 0.045699 0.268926805475888 FALSE 2.85079e-05 ENSE00000694538_017 ENSE00000694538 017 19 30312587 30312756 + 42 96 32 G A 30312746 1959 160 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCAGCCATTTTTT 29821679 29821849 29821838 29821839 29821839 downstr_intron 22 1.70967741935484 AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCAGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT mutant NA NA NA NA NA 677 157 0.998961997856544 0.979238977041709 0.989100487449127 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 NA NA 0.0053370986327117 0.0472799673792442 0.991740521151349 0.962791954443149 NA 0.026308533005978 NA FALSE NA 0 -2.414 . intron_variant MODIFIER CCNE1 HGNC 1589 ENST00000262643 8/11 rs543995160 1 NA CGG G,A 2.471e-05 19:29821839 CCNE1 HGNC Symbol protein_coding 12410 ENSG00000105173 ENSE00000694538 non_coding_transcript_exon_variant -0.018611 0.15867 0.00444 0.156188 0.557245418929766 0.045699 0.268926805475888 FALSE 3.25736e-05 ENSE00000694538_BRK ENSE00000694538 BRK 19 30312587 30312756 + 42 96 32 A,G; T,T NA NA NA AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCTTGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGCCGGGTTCCAGTGAATTTTCCGGCCATTTTTT 29821679 29821849 NA NA NA NA NA NA AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCTTGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGCCGGGTTCCAGTGAATTTTCCGGCCATTTTTT AGATTGGCTTTGGTGCTAGTGCCATCTTTTATTTCCTTTCAGGAAATCTATCCTCCAAAGTTGCACCAGTTTGCGTATGTGACAGATGGAGCTTGTTCAGGAGATGAAATTCTCACCATGGAATTAATGATTATGAAGGTGGGTTCCAGTGAATTTTCCGGCCATTTTTT control 279 43 0 0 0 400 240 0.0394678043415108 0 0.0197339021707554 0.990464155356519 0.993016886946179 0.993624899223833 0.931959009662465 -0.990464155356519 -0.993016886946179 -0.954157094882322 -0.931959009662465 0.991740521151349 0.962791954443149 -0.991740521151349 -0.943058052272393 0.0486824688789558 TRUE TRUE NA NA NA NA NA CCNE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCNE1 NA NA NA ENSG00000105173 ENSE00000694538 NA NA NA NA NA NA NA 0.268926805475888 FALSE NA ENSE00000695929_000 ENSE00000695929 000 16 87376441 87376610 - 42 75 53 NA NA NA NA NA GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 NA NA NA NA NA NA GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT natural NA NA NA NA NA 1959 298 0.831309485165407 0.959285173018822 0.895297329092114 NA NA 0.831309485165407 0.959285173018822 NA NA 0 0 NA 0.895297329092114 NA 0 NA FALSE NA NA NA NA NA NA FBXO31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXO31 NA NA NA ENSG00000103264 ENSE00003807201 NA NA NA NA NA NA NA 0.911167117005807 TRUE NA ENSE00000695929_001 ENSE00000695929 001 16 87376441 87376610 - 42 75 53 C G 87376461 3092 150 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTCTGTTCATATGGTGCGGACCT 87342834 87343004 87342854 87342855 87342855 downstr_intron 22 1.53658536585366 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTCTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 132 251 0.985766781459314 1 0.992883390729657 NA NA 0.831309485165407 0.959285173018822 NA NA 0.154457296293907 0.0407148269811785 NA 0.895297329092114 NA 0.0975860616375429 NA FALSE NA 0 -0.922 . intron_variant MODIFIER FBXO31 HGNC 16510 ENST00000563113 5/6 rs201288848 1 G:0.0010 G:0.0008 G:0 NA G:0 G:0.004 G:0 G:0.0005 G:0.0023 ACA C,G 0.0007511 16:87342855 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 intron_variant -0.082304 0.18944 0.02835 0.156188 0.680828381913463 0.0733659 0.911167117005807 TRUE 0.000999565 ENSE00000695929_002 ENSE00000695929 002 16 87376441 87376610 - 42 75 53 C T 87376467 3093 144 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCAGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342860 87342861 87342861 downstr_intron 16 1.39024390243902 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCAGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 794 171 1 0.996124560323298 0.998062280161649 NA NA 0.831309485165407 0.959285173018822 NA NA 0.168690514834593 0.0368393873044766 NA 0.895297329092114 NA 0.102764951069535 NA FALSE NA 0 -0.149 . intron_variant MODIFIER FBXO31 HGNC 16510 ENST00000563113 5/6 1 NA CCG C,T 2.475e-05 16:87342861 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 intron_variant -0.048759 0.1576 0.07013 0.115753 0.540357164434808 0.0726278 0.911167117005807 TRUE NA ENSE00000695929_003 ENSE00000695929 003 16 87376441 87376610 - 42 75 53 G A 87376468 3094 143 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCTGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342861 87342862 87342862 downstr_intron 15 1.36585365853659 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCTGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 907 478 0.997602919655854 0.99582733761723 0.996715128636542 NA NA 0.831309485165407 0.959285173018822 NA NA 0.166293434490447 0.0365421645984083 NA 0.895297329092114 NA 0.101417799544428 NA FALSE NA 0.001 -0.059 . intron_variant MODIFIER FBXO31 HGNC 16510 ENST00000563113 5/6 rs369736097 1 NA A:0.0002 A:0.0001 CGG G,A 8.251e-05 16:87342862 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 intron_variant -0.534834 0.10601 0.01503 0.115753 0.379976592681209 0.0733659 0.911167117005807 TRUE 8.64661e-05 ENSE00000695929_004 ENSE00000695929 004 16 87376441 87376610 - 42 75 53 C G 87376470 3095 141 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCACCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342863 87342864 87342864 downstr_intron 13 1.31707317073171 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCACCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 667 505 0.99962921569985 0.961316112743437 0.980472664221644 NA NA 0.831309485165407 0.959285173018822 NA NA 0.168319730534443 0.00203093972461577 NA 0.895297329092114 NA 0.0851753351295294 NA FALSE NA 0 -0.283 . intron_variant MODIFIER FBXO31 HGNC 16510 ENST00000563113 5/6 1 NA GCT C,G 8.25e-06 16:87342864 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 intron_variant 0.034194 0.2165 0.02153 0.115753 0.480476822141204 0.0733659 0.911167117005807 TRUE NA ENSE00000695929_006 ENSE00000695929 006 16 87376441 87376610 - 42 75 53 G A 87376473 3097 138 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCATCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342866 87342867 87342867 downstr_intron 10 1.24390243902439 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCATCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 300 623 1 0.837231821798731 0.918615910899365 NA NA 0.831309485165407 0.959285173018822 NA NA 0.168690514834593 -0.122053351220091 NA 0.895297329092114 NA 0.023318581807251 NA FALSE NA 0 -1.081 NA NA NA FBXO31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87342867 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 intron_variant -1.007348 0.0721 0.01854 0.115753 0.644174598379732 0.0733659 0.911167117005807 TRUE 4.70792e-06 ENSE00000695929_007 ENSE00000695929 007 16 87376441 87376610 - 42 75 53 G A 87376475 3098 136 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCTACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342868 87342869 87342869 downstr_intron 8 1.19512195121951 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCTACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 289 2310 0.814720225176327 0.800367741131835 0.807543983154081 NA NA 0.831309485165407 0.959285173018822 NA NA -0.0165892599890796 -0.158917431886987 NA 0.895297329092114 NA -0.0877533459380331 NA FALSE NA 0 -0.759 . splice_region_variant&intron_variant LOW FBXO31 HGNC 16510 ENST00000563113 5/6 1 NA TGG G,A 8.248e-06 16:87342869 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 splice_region_variant -0.08714 0.2308 0.04312 0.115753 0.423411546652195 0.0823653 0.911167117005807 TRUE NA ENSE00000695929_008 ENSE00000695929 008 16 87376441 87376610 - 42 75 53 G A 87376495 3099 116 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGTGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342888 87342889 87342889 exon -13 0.84 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGTGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant 14 47 0 0.042134207736341 0.0210671038681705 NA NA NA NA NA NA NA 0.831309485165407 0.959285173018822 NA NA NA NA NA 0.895297329092114 NA NA NA NA NA 0 -1.931 . synonymous_variant LOW FBXO31 HGNC 16510 ENST00000563113 5/7 COSM974591&COSM974590 1 NA CGC G,A 8.244e-06 16:87342889 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 synonymous_variant 1.284206 0.13568 0.09866 0.706548 0.730661519376044 0 0.911167117005807 TRUE NA ENSE00000695929_009 ENSE00000695929 009 16 87376441 87376610 - 42 75 53 G A 87376498 3100 113 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCTGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342891 87342892 87342892 exon -16 0.8 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCTGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 93 1619 0.944603357639356 0.886637521719788 0.915620439679572 NA NA 0.831309485165407 0.959285173018822 NA NA 0.113293872473949 -0.0726476512990332 NA 0.895297329092114 NA 0.020323110587458 NA FALSE NA 0 -3.788 rs140641305 synonymous_variant LOW FBXO31 HGNC 16510 ENST00000563113 5/7 rs140641305&COSM974593&COSM974592 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.002 A:0.0001 CGG G,A 0.0002967 16:87342892 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 synonymous_variant 1.326898 0.15655 0.05204 0.706548 0.708668521156524 0 0.911167117005807 TRUE 0.000241658 ENSE00000695929_011 ENSE00000695929 011 16 87376441 87376610 - 42 75 53 T C 87376523 3102 88 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAGCCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342916 87342917 87342917 exon 35 0.466666666666667 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAGCCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 66 1028 0.943580340652107 0.806929414232548 0.875254877442328 NA NA 0.831309485165407 0.959285173018822 NA NA 0.1122708554867 -0.152355758786273 NA 0.895297329092114 NA -0.0200424516497865 NA FALSE NA 1 3.134 . missense_variant MODERATE FBXO31 HGNC 16510 ENST00000563113 5/7 1 tolerated(0.4) benign(0.128) NA GTT T,C 1.648e-05 16:87342917 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 missense_variant 1.135365 0.93096 0.91428 0.706548 0.988380996956159 0 0.911167117005807 TRUE NA ENSE00000695929_012 ENSE00000695929 012 16 87376441 87376610 - 42 75 53 G A 87376534 3103 77 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCTACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342927 87342928 87342928 exon 24 0.32 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCTACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 1371 212 0.805527094088094 0.927510351232545 0.866518722660319 NA NA 0.831309485165407 0.959285173018822 NA NA -0.0257823910773133 -0.0317748217862768 NA 0.895297329092114 NA -0.028778606431795 NA FALSE NA 1 0.853 . synonymous_variant LOW FBXO31 HGNC 16510 ENST00000563113 5/7 rs267604673 1 NA TGG G,A 1.648e-05 16:87342928 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 synonymous_variant 1.327455 0.91231 0.84307 0.706548 0.75891727743226 0 0.911167117005807 TRUE NA ENSE00000695929_013 ENSE00000695929 013 16 87376441 87376610 - 42 75 53 C A 87376546 3104 65 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAATGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342939 87342940 87342940 exon 12 0.16 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAATGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 1490 353 0.954391814269207 0.8 0.877195907134603 NA NA 0.831309485165407 0.959285173018822 NA NA 0.1230823291038 -0.159285173018822 NA 0.895297329092114 NA -0.0181014219575108 NA FALSE NA 1 1.104 . missense_variant MODERATE FBXO31 HGNC 16510 ENST00000563113 5/7 rs201921022 1 deleterious(0) possibly_damaging(0.786) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CCT C,A 8.239e-05 16:87342940 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 missense_variant 6.639125 0.94463 0.93008 0.706548 0.998191563249695 0 0.911167117005807 TRUE 7.28376e-05 ENSE00000695929_015 ENSE00000695929 015 16 87376441 87376610 - 42 75 53 A T 87376555 3106 56 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATAGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342948 87342949 87342949 exon 3 0.04 GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATAGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 1039 1047 0.913789941010759 0.798090719171349 0.855940330091054 NA NA 0.831309485165407 0.959285173018822 NA NA 0.0824804558453521 -0.161194453847473 NA 0.895297329092114 NA -0.0393569990010604 NA FALSE NA 0.161 -0.138 . splice_region_variant&synonymous_variant LOW FBXO31 HGNC 16510 ENST00000563113 5/7 1 NA CAA A,T 8.241e-06 16:87342949 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 splice_region_variant 1.471628 0.90864 0.61184 0.706548 0.774696174054848 0 0.911167117005807 TRUE 1.29675e-05 ENSE00000695929_019 ENSE00000695929 019 16 87376441 87376610 - 42 75 53 C G 87376598 3110 13 GTGATGGACTCTCTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342991 87342992 87342992 upstr_intron -41 -0.754716981132076 GTGATGGACTCTCTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant 23 11 0.85 0.85 0.85 236 655 0.801104642435992 0.867297432856158 0.834201037646075 NA NA 0.831309485165407 0.959285173018822 NA NA -0.0302048427294147 -0.0919877401626635 NA 0.895297329092114 NA -0.0610962914460391 NA FALSE NA 0 0.099 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87342992 FBXO31 HGNC Symbol protein_coding 65155 ENSG00000103264 ENSE00003807201 intron_variant 0.002875 0.26325 0.11774 0.099367 0.714547055828097 0.0514662 0.911167117005807 TRUE 1.17452e-05 ENSE00000695929_020 ENSE00000695929 020 16 87376441 87376610 - 42 75 53 C A 87376598 3111 13 GTGATGGACTCTTTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 87342991 87342992 87342992 upstr_intron -41 -0.754716981132076 GTGATGGACTCTTTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT mutant NA NA NA NA NA 157 1784 0.99902250924164 0.992322001035422 0.995672255138531 NA NA 0.831309485165407 0.959285173018822 NA NA 0.167713024076233 0.0330368280166004 NA 0.895297329092114 NA 0.100374926046417 NA FALSE NA 0 0.099 NA NA NA FBXO31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXO31 NA NA NA ENSG00000103264 ENSE00003807201 intron_variant 0.176609 0.26199 0.10391 0.099367 0.685412393449529 0.0514662 0.911167117005807 TRUE 4.11083e-05 ENSE00000695929_BRK ENSE00000695929 BRK 16 87376441 87376610 - 42 75 53 A,G; T,T NA NA NA GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGATTATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGCCGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT 87342834 87343004 NA NA NA NA NA NA GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGATTATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGCCGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT GTGATGGACTCTGTTCCTCACTCTTCTCTTTCCTTGTGTTGCAAACACTGAAGATTGTGAAGAAGGATGAGTTCTCCACCAAGTGCAACCAGACGGACCACCACAGGATGTCCGGCGGGAGGCAGGAGGTGAGCCCACCAGCCGGCCCTGTGTTCATATGGTGCGGACCT control 68 70 0.0567733296336798 0 0.0283866648168399 209 434 0 0 0 NA NA 0.831309485165407 0.959285173018822 NA NA -0.831309485165407 -0.959285173018822 NA 0.895297329092114 NA -0.895297329092114 NA TRUE NA NA NA NA NA NA FBXO31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXO31 NA NA NA ENSG00000103264 ENSE00003807201 NA NA NA NA NA NA NA 0.911167117005807 TRUE NA ENSE00000697469_000 ENSE00000697469 000 8 72942091 72942260 - 45 69 56 NA NA NA NA NA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 NA NA NA NA NA NA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA natural 59 91 0.996740808794733 0.992686198528045 0.994713503661389 2983 2890 0.910360531040352 0.737515855391119 0.823938193215735 0.996740808794733 0.992686198528045 0.910360531040352 0.737515855391119 0 0 0 0 0.994713503661389 0.823938193215735 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00000697469 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000697469_005 ENSE00000697469 005 8 72942091 72942260 - 45 69 56 T G 72942127 1457 134 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCCGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029891 72029892 72029892 downstr_intron 9 1.20454545454545 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCCGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 481 690 1 0.981913092381377 0.990956546190689 0.996740808794733 0.992686198528045 0.910360531040352 0.737515855391119 NA NA 0.0896394689596485 0.244397236990258 0.994713503661389 0.823938193215735 NA 0.167018352974953 NA FALSE NA 0 0.404 NA NA NA RP11-383H13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSC-AS1 NA NA NA ENSG00000235531 ENSE00000697469 intron_variant -0.091982 0.08014 0.00164 0.074636 0.679219794375047 0.0507998 NA NA 2.84831e-05 ENSE00000697469_BRK ENSE00000697469 BRK 8 72942091 72942260 - 45 69 56 A,G; T,T NA NA NA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCTTATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGCCAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 NA NA NA NA NA NA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCTTATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGCCAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA control 291 188 0 0 0 805 74 0.00795035296903229 0.0998418434936042 0.0538960982313182 0.996740808794733 0.992686198528045 0.910360531040352 0.737515855391119 -0.996740808794733 -0.992686198528045 -0.902410178071319 -0.637674011897515 0.994713503661389 0.823938193215735 -0.994713503661389 -0.770042094984417 0.224671408676972 TRUE TRUE NA NA NA NA NA RP11-383H13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSC-AS1 NA NA NA ENSG00000235531 ENSE00000697469 NA NA NA NA NA NA NA NA NA NA ENSE00000698372_000 ENSE00000698372 000 15 74240106 74240275 + 42 96 32 NA NA NA NA NA TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 NA NA NA NA NA NA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA natural 54 14 0.869597955170398 0.999612118464542 0.93460503681747 1735 576 0.995712581409726 0.97164086005812 0.983676720733923 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 0 0 0 0 0.93460503681747 0.983676720733923 0 0 0 FALSE FALSE NA NA NA NA NA LOXL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LOXL1 NA NA NA ENSG00000129038 ENSE00003576071 NA NA NA NA NA NA NA NA NA NA ENSE00000698372_001 ENSE00000698372 001 15 74240106 74240275 + 42 96 32 C T 74240125 1811 20 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCAGCTGTGATGCTGCTTGTTT 73947764 73947934 73947783 73947784 73947784 upstr_intron -23 -0.523809523809524 AAACAAGCAGCATCACAGCTGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 38 15 0.987444130241978 0.95 0.968722065120989 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA -0.00826845116774844 -0.0216408600581199 0.93460503681747 0.983676720733923 NA -0.0149546556129342 NA FALSE NA 0 0.58 . upstream_gene_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1 NA CCG C,T 8.237e-06 15:73947784 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 non_coding_transcript_exon_variant 1.552239 0.17002 0.04693 0.073086 0.909799318015987 0.0476178 NA NA 3.44006e-05 ENSE00000698372_003 ENSE00000698372 003 15 74240106 74240275 + 42 96 32 C T 74240139 1813 34 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAAGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947797 73947798 73947798 upstr_intron -9 -0.19047619047619 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCTTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 10 12 1 1 1 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00428741859027371 0.02835913994188 0.93460503681747 0.983676720733923 NA 0.0163232792660769 NA FALSE NA 0.048 1.139 . upstream_gene_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1 NA CCT C,T 1.647e-05 15:73947798 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 non_coding_transcript_exon_variant 1.673709 0.16544 0.02866 0.073086 0.844770758844652 0.110576 NA NA 8.24382e-06 ENSE00000698372_006 ENSE00000698372 006 15 74240106 74240275 + 42 96 32 A G 74240179 1816 74 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCACTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947837 73947838 73947838 exon 32 0.333333333333333 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAGTGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 114 101 1 1 1 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00428741859027371 0.02835913994188 0.93460503681747 0.983676720733923 NA 0.0163232792660769 NA FALSE NA 1 7.421 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 1 NA AAT A,G 1.647e-05 15:73947838 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 missense_variant 4.528721 0.98086 0.9544 0.736574 0.998119251677999 0 NA NA 8.12869e-06 ENSE00000698372_007 ENSE00000698372 007 15 74240106 74240275 + 42 96 32 C T 74240182 1817 77 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCACATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947840 73947841 73947841 exon 35 0.364583333333333 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGTGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 198 3074 1 0.99922871346516 0.99961435673258 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00428741859027371 0.0275878534070397 0.93460503681747 0.983676720733923 NA 0.0159376359986567 NA FALSE NA 1 5.791 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 1 NA GCG C,T 8.236e-06 15:73947841 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 missense_variant 5.985759 0.98113 0.95471 0.736574 0.998779808972722 0 NA NA NA ENSE00000698372_008 ENSE00000698372 008 15 74240106 74240275 + 42 96 32 G A 74240183 1818 78 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCTGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947841 73947842 73947842 exon 36 0.375 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCAGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 89 106 1 1 1 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00428741859027371 0.02835913994188 0.93460503681747 0.983676720733923 NA 0.0163232792660769 NA FALSE NA 0 -3.681 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 COSM302569 1 NA CGG G,A 1.647e-05 15:73947842 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 synonymous_variant 0.661793 0.14066 0.023 0.736574 0.429964752669013 0 NA NA 1.21929e-05 ENSE00000698372_010 ENSE00000698372 010 15 74240106 74240275 + 42 96 32 C T 74240189 1820 84 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCAATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947847 73947848 73947848 exon 42 0.4375 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATTGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 45 653 1 0.982036325870441 0.99101816293522 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00428741859027371 0.0103954658123205 0.93460503681747 0.983676720733923 NA 0.00734144220129712 NA FALSE NA 0 -2.416 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 rs201644952 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 TCG C,T 8.236e-06 15:73947848 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 synonymous_variant 1.366885 0.89393 0.06704 0.736574 0.557430011752705 0 NA NA 4.06352e-06 ENSE00000698372_012 ENSE00000698372 012 15 74240106 74240275 + 42 96 32 G A 74240205 1822 100 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTTGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947863 73947864 73947864 exon -39 0.604166666666667 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCAACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 729 587 0.998351297763778 0.988159374297691 0.993255336030734 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00263871635405177 0.0165185142395705 0.93460503681747 0.983676720733923 NA 0.00957861529681114 NA FALSE NA 1 9.694 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 COSM1937839 1 NA CGA G,A 8.236e-06 15:73947864 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 missense_variant 6.107773 0.99174 0.9898 0.706298 0.999077161017089 0 NA NA NA ENSE00000698372_013 ENSE00000698372 013 15 74240106 74240275 + 42 96 32 A G 74240208 1823 103 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTACGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947866 73947867 73947867 exon -36 0.635416666666667 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACGTAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 65 743 1 0.996850910368896 0.998425455184448 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00428741859027371 0.0252100503107764 0.93460503681747 0.983676720733923 NA 0.014748734450525 NA FALSE NA 1 7.421 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 1 NA CAT A,G 8.236e-06 15:73947867 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 missense_variant 2.709359 0.98161 0.95484 0.706298 0.995912903539981 0 NA NA 4.06365e-06 ENSE00000698372_015 ENSE00000698372 015 15 74240106 74240275 + 42 96 32 C T 74240216 1825 111 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACATCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947874 73947875 73947875 exon -28 0.71875 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGATGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 64 74 0.987105301634952 1 0.993552650817476 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA -0.00860727977477438 0.02835913994188 0.93460503681747 0.983676720733923 NA 0.00987593008355281 NA FALSE NA 0 -2.35 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 1 NA ACG C,T 8.236e-06 15:73947875 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 synonymous_variant 0.958958 0.73716 0.02467 0.706298 0.353073038271486 0 NA NA 1.21969e-05 ENSE00000698372_016 ENSE00000698372 016 15 74240106 74240275 + 42 96 32 G A 74240217 1826 112 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCATGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947875 73947876 73947876 exon -27 0.729166666666667 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACATGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 543 240 0.995143578817033 1 0.997571789408516 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA -0.000569002592693657 0.02835913994188 0.93460503681747 0.983676720733923 NA 0.0138950686745932 NA FALSE NA 1 4.414 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 rs368697216 1 NA CGT G,A 0.0001071 15:73947876 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 missense_variant 5.590657 0.9796 0.9363 0.706298 0.99849242391631 0 NA NA 6.50512e-05 ENSE00000698372_017 ENSE00000698372 017 15 74240106 74240275 + 42 96 32 C A 74240223 1827 118 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATGTAGTTCCCAGTCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947881 73947882 73947882 exon -21 0.791666666666667 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGACTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 289 147 1 1 1 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00428741859027371 0.02835913994188 0.93460503681747 0.983676720733923 NA 0.0163232792660769 NA FALSE NA 1 5.95 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 rs373089637 1 NA A:0 A:0.0001 GCC C,A 0.00014 15:73947882 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 missense_variant 6.107836 0.9944 0.9875 0.706298 0.99816889244988 0 NA NA 8.13326e-05 ENSE00000698372_018 ENSE00000698372 018 15 74240106 74240275 + 42 96 32 C T 74240234 1828 129 TTGGAGGGAAAGCCCCAGACCCAGAGGCCCACCTTGAGGATATAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947892 73947893 73947893 exon -10 0.90625 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTATATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 53 71 0.998436608731531 0.8 0.899218304365765 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00272402732180455 -0.17164086005812 0.93460503681747 0.983676720733923 NA -0.0844584163681577 NA FALSE NA 1 2.123 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LOXL1 HGNC 6665 ENST00000567675 1/3 rs556321054 1 NA ACA C,T 8.236e-06 15:73947893 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 synonymous_variant 0.967707 0.98301 0.92387 0.706298 0.553785767667258 0 NA NA 1.62815e-05 ENSE00000698372_022 ENSE00000698372 022 15 74240106 74240275 + 42 96 32 C A 74240249 1832 144 TTGGAGGGAAAGCCCCAGACCCAGAGTCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947907 73947908 73947908 downstr_intron 6 1.19354838709677 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGACTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 25 70 1 1 1 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00428741859027371 0.02835913994188 0.93460503681747 0.983676720733923 NA 0.0163232792660769 NA FALSE NA 0.451 0.3 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW LOXL1 HGNC 6665 ENST00000567675 1/2 1 NA GCC C,A 8.236e-06 15:73947908 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 splice_region_variant 1.149053 0.2169 0.13937 0.06567 0.746575144609443 0.166745 NA NA 4.10543e-06 ENSE00000698372_023 ENSE00000698372 023 15 74240106 74240275 + 42 96 32 G T 74240256 1833 151 TTGGAGGGAAAGCCCCAGAACCAGAGGCCCACCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCCTGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 73947914 73947915 73947915 downstr_intron 13 1.41935483870968 AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGTTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA mutant NA NA NA NA NA 771 28 0.997026767131495 1 0.998513383565747 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 NA NA 0.00131418572176822 0.02835913994188 0.93460503681747 0.983676720733923 NA 0.0148366628318241 NA FALSE NA 0 0.123 NA NA NA LOXL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:73947915 LOXL1 HGNC Symbol protein_coding 26148 ENSG00000129038 ENSE00003576071 intron_variant 0.247907 0.18672 0.0742 0.06567 0.667295824795384 0.0448725 NA NA 1.24729e-05 ENSE00000698372_BRK ENSE00000698372 BRK 15 74240106 74240275 + 42 96 32 A,G; T,T NA NA NA TTGGAGGGAAAGCCCCAGACCCAGAGGCCCGGCTTGAGGATGTAGTTCCCAGGCTGCACGTCGGTTATGTCGATCCACTGGCAGTCGATGTCCGCATTGTAGGTGTCATAGCAGCCTGGGCTCAGGCCAAGGGAAAGGGACAAGAGGAGCGGCTGTGATGCTGCTTGTTT 73947764 73947934 NA NA NA NA NA NA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCTTGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGCCGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA AAACAAGCAGCATCACAGCCGCTCCTCTTGTCCCTTTCCCAGGGCCTGAGCCCAGGCTGCTATGACACCTACAATGCGGACATCGACTGCCAGTGGATCGACATAACCGACGTGCAGCCTGGGAACTACATCCTCAAGGTGGGCCTCTGGGTCTGGGGCTTTCCCTCCAA control 201 63 0 0 0 NA NA NA NA NA 0.869597955170398 0.999612118464542 0.995712581409726 0.97164086005812 -0.869597955170398 -0.999612118464542 NA NA 0.93460503681747 0.983676720733923 -0.93460503681747 NA NA NA TRUE NA NA NA NA NA LOXL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LOXL1 NA NA NA ENSG00000129038 ENSE00003576071 NA NA NA NA NA NA NA NA NA NA ENSE00000698398_000 ENSE00000698398 000 8 86244671 86244840 - 48 63 59 NA NA NA NA NA CTGTAAATTCTTGTTCTCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGTTGGCCTCACCAACCTGGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCGAACACTGCTTA 85332441 85332611 NA NA NA NA NA NA TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG natural 24 16 0.999266746502916 1 0.999633373251458 1483 2640 0.800929479510132 0.872208339064524 0.836568909287328 0.999266746502916 1 0.800929479510132 0.872208339064524 0 0 0 0 0.999633373251458 0.836568909287328 0 0 0 FALSE FALSE NA NA NA NA NA CA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA1 NA NA NA ENSG00000133742 ENSE00003588058 NA NA NA NA NA NA NA 3.77366091172667e-05 FALSE NA ENSE00000698398_001 ENSE00000698398 001 8 86244671 86244840 - 48 63 59 C A 86244686 1524 155 CTGTAAATTCTTGTTATCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGTTGGCCTCACCAACCTGGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCGAACACTGCTTA 85332441 85332611 85332456 85332457 85332457 downstr_intron 33 1.70212765957447 TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGATAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 87 258 0.998233903045395 1 0.999116951522697 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.197304423535262 0.127791660935476 0.999633373251458 0.836568909287328 NA 0.162548042235369 NA FALSE NA 0 -1.304 . downstream_gene_variant MODIFIER CA1 HGNC 1368 ENST00000522579 1 NA TCT C,A 8.239e-06 8:85332457 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 non_coding_transcript_exon_variant 0.029326 0.12605 0.01443 0.074636 0.664111320168551 0.0640786 3.77366091172667e-05 FALSE 4.08247e-06 ENSE00000698398_003 ENSE00000698398 003 8 86244671 86244840 - 48 63 59 C T 86244698 1526 143 CTGTAAATTCTTGTTCTCTGATTTAAATTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGTTGGCCTCACCAACCTGGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCGAACACTGCTTA 85332441 85332611 85332468 85332469 85332469 downstr_intron 21 1.4468085106383 TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAATTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 49 320 1 1 1 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.199070520489868 0.127791660935476 0.999633373251458 0.836568909287328 NA 0.163431090712672 NA FALSE NA 0 0.008 . downstream_gene_variant MODIFIER CA1 HGNC 1368 ENST00000522579 rs373819788 1 NA T:0.0002 T:0 ACT C,T 1.648e-05 8:85332469 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 non_coding_transcript_exon_variant 0.249899 0.1398 0.02435 0.074636 0.619588383260178 0.0640786 3.77366091172667e-05 FALSE 1.22295e-05 ENSE00000698398_010 ENSE00000698398 010 8 86244671 86244840 - 48 63 59 G A 86244766 1533 75 CTGTAAATTCTTGTTCTCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGAGTTGGCCTCACCAACCTGGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCGAACACTGCTTA 85332441 85332611 85332536 85332537 85332537 exon 16 0.253968253968254 TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACTCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 121 640 1 0.99697028531247 0.998485142656235 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.199070520489868 0.124761946247946 0.999633373251458 0.836568909287328 NA 0.161916233368907 NA FALSE NA 0.606 2.433 rs144180228 downstream_gene_variant MODIFIER CA1 HGNC 1368 ENST00000522579 rs144180228 1 NA A:0 A:0.0001 GGG G,A 8.238e-06 8:85332537 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 missense_variant 2.12819 0.96781 0.85859 0.553676 0.973721385034758 0 3.77366091172667e-05 FALSE 4.07339e-06 ENSE00000698398_011 ENSE00000698398 011 8 86244671 86244840 - 48 63 59 T C 86244768 1534 73 CTGTAAATTCTTGTTCTCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGCTGGCCTCACCAACCTGGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCGAACACTGCTTA 85332441 85332611 85332538 85332539 85332539 exon 14 0.222222222222222 TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAGCCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 687 293 0.999106571212095 1 0.999553285606047 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.198177091701962 0.127791660935476 0.999633373251458 0.836568909287328 NA 0.162984376318719 NA FALSE NA 1 3.386 . downstream_gene_variant MODIFIER CA1 HGNC 1368 ENST00000522579 1 NA GTT T,C 1.648e-05 8:85332539 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 missense_variant 3.622289 0.98863 0.93427 0.553676 0.991763871621966 0 3.77366091172667e-05 FALSE 8.14717e-06 ENSE00000698398_013 ENSE00000698398 013 8 86244671 86244840 - 48 63 59 C A 86244778 1536 63 CTGTAAATTCTTGTTCTCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGTTGGCCTCACAAACCTGGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCGAACACTGCTTA 85332441 85332611 85332548 85332549 85332549 exon 4 0.0634920634920635 TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTTGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 128 636 1 1 1 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.199070520489868 0.127791660935476 0.999633373251458 0.836568909287328 NA 0.163431090712672 NA FALSE NA 1 6.871 . downstream_gene_variant MODIFIER CA1 HGNC 1368 ENST00000522579 1 NA CCA C,A 8.238e-06 8:85332549 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 missense_variant 6.609574 0.9916 0.9827 0.553676 0.996420078283002 0 3.77366091172667e-05 FALSE 4.07534e-06 ENSE00000698398_016 ENSE00000698398 016 8 86244671 86244840 - 48 63 59 G T 86244784 1539 57 CTGTAAATTCTTGTTCTCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGTTGGCCTCACCAACCTTGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCGAACACTGCTTA 85332441 85332611 85332554 85332555 85332555 upstr_intron -3 -0.0338983050847458 TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCAAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 143 559 0.80363529165003 0.782785970907729 0.793210631278879 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.00270581213989707 -0.0894223681567949 0.999633373251458 0.836568909287328 NA -0.0433582780084489 NA FALSE NA 0.572 1.155 NA NA NA CA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:85332555 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 splice_region_variant 0.780819 0.96306 0.77875 0.074636 0.599731740197868 0.335506 3.77366091172667e-05 FALSE 1.63083e-05 ENSE00000698398_021 ENSE00000698398 021 8 86244671 86244840 - 48 63 59 T G 86244790 1544 51 CTGTAAATTCTTGTTCTCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGTTGGCCTCACCAACCTGGAGATGTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCGAACACTGCTTA 85332441 85332611 85332560 85332561 85332561 upstr_intron -9 -0.135593220338983 TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTACATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 394 62 1 1 1 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.199070520489868 0.127791660935476 0.999633373251458 0.836568909287328 NA 0.163431090712672 NA FALSE NA 0 -0.249 . downstream_gene_variant MODIFIER CA1 HGNC 1368 ENST00000522579 1 NA TTT T,G 8.239e-06 8:85332561 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 intron_variant 1.00486 0.80318 0.03392 0.074636 0.668281987483422 0.306758 3.77366091172667e-05 FALSE 4.07827e-06 ENSE00000698398_025 ENSE00000698398 025 8 86244671 86244840 - 48 63 59 A G 86244826 1548 15 CTGTAAATTCTTGTTCTCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGTTGGCCTCACCAACCTGGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAGTCGAACACTGCTTA 85332441 85332611 85332596 85332597 85332597 upstr_intron -45 -0.745762711864407 TAAGCAGTGTTCGACTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 652 38 0.990703941201459 0.95 0.97035197060073 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.189774461691327 0.0777916609354763 0.999633373251458 0.836568909287328 NA 0.133783061313402 NA FALSE NA 0 0.673 . downstream_gene_variant MODIFIER CA1 HGNC 1368 ENST00000522579 rs541904653 1 NA AAT A,G 8.241e-06 8:85332597 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 intron_variant -0.110161 0.16269 0.06124 0.061011 0.408262405658061 0.0682314 3.77366091172667e-05 FALSE 3.30153e-05 ENSE00000698398_027 ENSE00000698398 027 8 86244671 86244840 - 48 63 59 G A 86244829 1550 12 CTGTAAATTCTTGTTCTCTGATTTAAACTACTTATTTAGTGTGTTTACCTTGGTTTTAATTGCTTGGAGGGCATCAAGTACTTTCTGCAGCTTTGGGTTGGCCTCACCAACCTGGAGATTTAAGAAAATAAAGTATGAGATAAAGATTATTATCAATCAAACACTGCTTA 85332441 85332611 85332599 85332600 85332600 upstr_intron -48 -0.796610169491525 TAAGCAGTGTTTGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG TAAGCAGTGTTCGATTGATAATAATCTTTATCTCATACTTTATTTTCTTAAATCTCCAGGTTGGTGAGGCCAACCCAAAGCTGCAGAAAGTACTTGATGCCCTCCAAGCAATTAAAACCAAGGTAAACACACTAAATAAGTAGTTTAAATCAGAGAACAAGAATTTACAG mutant NA NA NA NA NA 14 1123 0.818247446836916 0.99982521233176 0.909036329584338 0.999266746502916 1 0.800929479510132 0.872208339064524 NA NA 0.0173179673267839 0.127616873267237 0.999633373251458 0.836568909287328 NA 0.0724674202970103 NA FALSE NA 0 -0.073 . downstream_gene_variant MODIFIER CA1 HGNC 1368 ENST00000522579 rs576466557 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 1.648e-05 8:85332600 CA1 HGNC Symbol protein_coding 51406 ENSG00000133742 ENSE00003588058 intron_variant -0.469802 0.07584 0.00046 0.061011 0.370112941555433 0.11095 3.77366091172667e-05 FALSE 2.07242e-05 ENSE00000698427_000 ENSE00000698427 000 8 86387968 86388137 + 59 63 48 NA NA NA NA NA TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 NA NA NA NA NA NA TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC natural 53 41 0.997145731283241 0.994712444376693 0.995929087829967 1830 6223 0.890705632290161 0.993700332661542 0.942202982475851 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 0 0 0 0 0.995929087829967 0.942202982475851 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA2 NA NA NA ENSG00000104267 ENSE00003616575 NA NA NA NA NA NA NA 0.100369922719721 FALSE NA ENSE00000698427_001 ENSE00000698427 001 8 86387968 86388137 + 59 63 48 A G 86387979 1571 12 TAAAAACTGGTGCAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475749 85475750 85475750 upstr_intron -48 -0.796610169491525 TAAAAACTGGTGCAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 63 1971 1 0.986209719556729 0.993104859778364 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109294367709839 -0.00749061310481292 0.995929087829967 0.942202982475851 NA 0.0509018773025132 NA FALSE NA 0 0.375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:85475750 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant 0.089281 0.15652 0.01467 0.074636 0.567812188832377 0.0481801 0.100369922719721 FALSE 4.10401e-06 ENSE00000698427_002 ENSE00000698427 002 8 86387968 86388137 + 59 63 48 A C 86387979 1572 12 TAAAAACTGGTCCAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475749 85475750 85475750 upstr_intron -48 -0.796610169491525 TAAAAACTGGTCCAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 167 797 1 0.999521065863791 0.999760532931895 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109294367709839 0.00582073320224907 0.995929087829967 0.942202982475851 NA 0.0575575504560442 NA FALSE NA 0 0.375 NA NA NA CA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA2 NA NA NA ENSG00000104267 ENSE00003616575 intron_variant -0.156903 0.19331 0.05752 0.074636 0.687889729654518 0.0481801 0.100369922719721 FALSE 1.2312e-05 ENSE00000698427_003 ENSE00000698427 003 8 86387968 86388137 + 59 63 48 A C 86387981 1573 14 TAAAAACTGGTACCGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475751 85475752 85475752 upstr_intron -46 -0.76271186440678 TAAAAACTGGTACCGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 230 291 1 1 1 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109294367709839 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0577970175241487 NA FALSE NA 0 0.009 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA CAG A,C 8.237e-06 8:85475752 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant -0.149299 0.22516 0.05424 0.074636 0.678067823907368 0.0481801 0.100369922719721 FALSE 1.22794e-05 ENSE00000698427_004 ENSE00000698427 004 8 86387968 86388137 + 59 63 48 A G 86387998 1574 31 TAAAAACTGGTACAGTACCAACTGGGTGATGGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475768 85475769 85475769 upstr_intron -29 -0.474576271186441 TAAAAACTGGTACAGTACCAACTGGGTGATGGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 377 904 1 0.997563716795223 0.998781858397611 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109294367709839 0.0038633841336807 0.995929087829967 0.942202982475851 NA 0.05657887592176 NA FALSE NA 0.002 0.081 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA TAG A,G 8.236e-06 8:85475769 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant -0.114246 0.21078 0.01954 0.074636 0.517769429037451 0.0481801 0.100369922719721 FALSE 8.13776e-06 ENSE00000698427_005 ENSE00000698427 005 8 86387968 86388137 + 59 63 48 C T 86388007 1575 40 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGTCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475777 85475778 85475778 upstr_intron -20 -0.322033898305085 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGTCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 1319 28 0.998790792145168 1 0.999395396072584 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.108085159855008 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0571924135967329 NA FALSE NA 0 0.327 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA GCC C,T 8.236e-06 8:85475778 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant -0.193732 0.17762 0.01033 0.074636 0.58844882208349 0.0481801 0.100369922719721 FALSE 4.066e-06 ENSE00000698427_006 ENSE00000698427 006 8 86387968 86388137 + 59 63 48 C T 86388008 1576 41 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCTCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475778 85475779 85475779 upstr_intron -19 -0.305084745762712 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCTCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 1900 565 0.974598307268485 0.803603002396348 0.889100654832416 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.0838926749783243 -0.190097330265194 0.995929087829967 0.942202982475851 NA -0.0531023276434349 NA FALSE NA 0 0.263 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA CCC C,T 8.236e-06 8:85475779 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant -0.072788 0.20784 0.10675 0.074636 0.460259684392432 0.0481801 0.100369922719721 FALSE NA ENSE00000698427_007 ENSE00000698427 007 8 86387968 86388137 + 59 63 48 T G 86388020 1577 53 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTGCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475790 85475791 85475791 upstr_intron -7 -0.101694915254237 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTGCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 1299 324 0.993807824485871 1 0.996903912242936 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.10310219219571 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0547009297670842 NA FALSE NA 0 -1 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA TTC T,G 1.647e-05 8:85475791 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 splice_region_variant 0.384736 0.27986 0.15156 0.074636 0.552153528119147 0.174804 0.100369922719721 FALSE 4.06319e-06 ENSE00000698427_008 ENSE00000698427 008 8 86387968 86388137 + 59 63 48 T C 86388024 1578 57 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTCAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475794 85475795 85475795 upstr_intron -3 -0.0338983050847458 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTCAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 1172 130 0.997938490222509 0.998485485420856 0.998211987821683 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.107232857932349 0.00478515275931402 0.995929087829967 0.942202982475851 NA 0.0560090053458313 NA FALSE NA 0.874 1.174 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA TTA T,C 4.118e-05 8:85475795 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 splice_region_variant 0.095383 0.34503 0.14359 0.078448 0.57967496552876 0.183166 0.100369922719721 FALSE 5.28189e-05 ENSE00000698427_009 ENSE00000698427 009 8 86387968 86388137 + 59 63 48 G A 86388027 1579 60 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGATTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475797 85475798 85475798 exon 1 0.0158730158730159 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGATTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 419 304 0.999901740726768 0.998958094810294 0.999429917768531 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109196108436607 0.00525776214875162 0.995929087829967 0.942202982475851 NA 0.0572269352926794 NA FALSE NA 0.991 0.6 rs186437298 downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 rs186437298 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGT G,A 8.236e-06 8:85475798 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 missense_variant -0.220725 0.90815 0.31391 0.706298 0.300523940420769 0 0.100369922719721 FALSE 2.84428e-05 ENSE00000698427_011 ENSE00000698427 011 8 86387968 86388137 + 59 63 48 C A 86388043 1581 76 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACAGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475813 85475814 85475814 exon 17 0.26984126984127 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACAGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 1473 224 0.829579748150404 0.974886132422169 0.902232940286287 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA -0.0611258841397562 -0.0188142002393732 0.995929087829967 0.942202982475851 NA -0.0399700421895647 NA FALSE NA 1 2.644 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:85475814 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 missense_variant 3.44625 0.36266 0.72911 0.706298 0.974208029377648 0 0.100369922719721 FALSE 1.21894e-05 ENSE00000698427_012 ENSE00000698427 012 8 86387968 86388137 + 59 63 48 C T 86388043 1582 76 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACTGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475813 85475814 85475814 exon 17 0.26984126984127 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACTGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 534 392 0.998448397650108 1 0.999224198825054 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.107742765359947 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0570212163492028 NA FALSE NA 1 2.644 NA NA NA CA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA2 NA NA NA ENSG00000104267 ENSE00003616575 missense_variant 5.105259 0.36816 0.79963 0.706298 0.951826868507852 0 0.100369922719721 FALSE 3.2505e-05 ENSE00000698427_013 ENSE00000698427 013 8 86387968 86388137 + 59 63 48 G A 86388044 1583 77 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCAGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475814 85475815 85475815 exon 18 0.285714285714286 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCAGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 1324 79 0.999968913330589 1 0.999984456665295 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109263281040429 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0577814741894435 NA FALSE NA 0.997 0.8 rs140623407 downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 rs140623407 1 NA A:0 A:0.0007 CGG G,A 0.0002965 8:85475815 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 synonymous_variant 0.666399 0.24311 0.15521 0.706298 0.577711189870403 0 0.100369922719721 FALSE 0.000410369 ENSE00000698427_015 ENSE00000698427 015 8 86387968 86388137 + 59 63 48 A G 86388054 1585 87 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGGAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475824 85475825 85475825 exon 28 0.444444444444444 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGGAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 30 545 1 0.999930140667565 0.999965070333782 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109294367709839 0.00622980800602291 0.995929087829967 0.942202982475851 NA 0.0577620878579311 NA FALSE NA 1 8.419 rs145667849 downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 rs145667849 1 NA G:0 G:0.0001 GAA A,G 4.942e-05 8:85475825 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 missense_variant 2.716499 0.9749 0.98215 0.706298 0.996738191427779 0 0.100369922719721 FALSE 5.28146e-05 ENSE00000698427_017 ENSE00000698427 017 8 86387968 86388137 + 59 63 48 A G 86388056 1587 89 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAGGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475826 85475827 85475827 exon 30 0.476190476190476 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAGGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 261 270 0.981279493378953 1 0.990639746689477 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.0905738610887927 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0484367642136254 NA FALSE NA 0.998 1.944 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA AAG A,G 8.236e-06 8:85475827 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 synonymous_variant -0.161642 0.9255 0.81594 0.706298 0.398969489690805 0 0.100369922719721 FALSE NA ENSE00000698427_019 ENSE00000698427 019 8 86387968 86388137 + 59 63 48 C T 86388069 1589 102 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGTTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475839 85475840 85475840 exon -21 0.682539682539683 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGTTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 719 440 0.996557799185261 1 0.99827889959263 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.1058521668951 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0560759171167792 NA FALSE NA 0.082 0.984 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA GCT C,T 8.236e-06 8:85475840 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 synonymous_variant 1.272646 0.93752 0.52098 0.706298 0.510258711619104 0 0.100369922719721 FALSE 4.06342e-06 ENSE00000698427_020 ENSE00000698427 020 8 86387968 86388137 + 59 63 48 C T 86388076 1590 109 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTTCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475846 85475847 85475847 exon -14 0.793650793650794 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTTCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 91 2240 0.987615875709703 0.99996601360061 0.993790944655157 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.0969102434195427 0.00626568093906832 0.995929087829967 0.942202982475851 NA 0.0515879621793055 NA FALSE NA 0.008 1.125 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA TCC C,T 8.236e-06 8:85475847 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 missense_variant 2.635467 0.87831 0.75157 0.706298 0.996907594584705 0 0.100369922719721 FALSE 1.21917e-05 ENSE00000698427_021 ENSE00000698427 021 8 86387968 86388137 + 59 63 48 A G 86388087 1591 120 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAGAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475857 85475858 85475858 exon -3 0.968253968253968 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAGAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 38 131 1 1 1 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109294367709839 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0577970175241487 NA FALSE NA 1 8.419 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 CA2base_CA2_DNA:g.12842delA 1 NA AAA A,G 8.237e-06 8:85475858 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 missense_variant 5.239599 0.9749 0.98215 0.706298 0.998550696779285 0 0.100369922719721 FALSE 8.12975e-06 ENSE00000698427_022 ENSE00000698427 022 8 86387968 86388137 + 59 63 48 C A 86388105 1592 138 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTATGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475875 85475876 85475876 downstr_intron 16 1.34042553191489 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTATGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 812 569 0.998676319028772 1 0.999338159514386 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.107970686738611 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0571351770385348 NA FALSE NA 0.048 0.118 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA TCT C,A 8.237e-06 8:85475876 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant 0.106079 0.23806 0.08772 0.053691 0.474344395624178 0.117432 0.100369922719721 FALSE NA ENSE00000698427_023 ENSE00000698427 023 8 86387968 86388137 + 59 63 48 A G 86388110 1593 143 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCGCCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475880 85475881 85475881 downstr_intron 21 1.4468085106383 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCGCCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 86 16 0.97789691000658 1 0.98894845500329 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.087191277716419 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0467454725274385 NA FALSE NA 0 0.224 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA CAC A,G 1.647e-05 8:85475881 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant 0.424992 0.23295 0.03392 0.053691 0.48311668501698 0.11614 0.100369922719721 FALSE 8.1708e-06 ENSE00000698427_024 ENSE00000698427 024 8 86387968 86388137 + 59 63 48 T C 86388113 1594 146 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCCCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 85475883 85475884 85475884 downstr_intron 24 1.51063829787234 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCCCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 183 348 1 1 1 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.109294367709839 0.0062996673384581 0.995929087829967 0.942202982475851 NA 0.0577970175241487 NA FALSE NA 0 -0.02 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 1 NA CTC T,C 0.0001153 8:85475884 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant 0.135962 0.26245 0.03893 0.053691 0.592174486764731 0.11614 0.100369922719721 FALSE 0.000110459 ENSE00000698427_025 ENSE00000698427 025 8 86387968 86388137 + 59 63 48 C A 86388125 1595 158 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACAAATTTTCAATAC 85475738 85475908 85475895 85475896 85475896 downstr_intron 36 1.76595744680851 TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACAAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC mutant NA NA NA NA NA 3759 63 0.998461188303764 0.994945741520769 0.996703464912267 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA 0.107755556013604 0.00124540885922686 0.995929087829967 0.942202982475851 NA 0.0545004824364153 NA FALSE NA 0 -0.829 . downstream_gene_variant MODIFIER CA2 HGNC 1373 ENST00000520996 rs371514324 1 NA A:0 A:0.0002 CCA C,A 0.0001812 8:85475896 CA2 HGNC Symbol protein_coding 17641 ENSG00000104267 ENSE00003616575 intron_variant -0.184859 0.18908 0.08176 0.053691 0.336340637767033 0.0870264 0.100369922719721 FALSE 0.000120332 ENSE00000698427_BRK ENSE00000698427 BRK 8 86387968 86388137 + 59 63 48 A,G; T,T NA NA NA TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTTTGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGCCAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC 85475738 85475908 NA NA NA NA NA NA TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTTTGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGCCAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC TAAAAACTGGTACAGTACCAACTGGGTGATAGTATCTTGCCCTTTATGTTTTTCTTTAGGTTGGCAGCGCTAAACCGGGCCTTCAGAAAGTTGTTGATGTGCTGGATTCCATTAAAACAAAGGTAAATTTGAATTTTCTGCCACCTCCTTAGGGTACCAATTTTCAATAC control NA NA NA NA NA 321 381 0 0.00593924084131274 0.00296962042065637 0.997145731283241 0.994712444376693 0.890705632290161 0.993700332661542 NA NA -0.890705632290161 -0.987761091820229 0.995929087829967 0.942202982475851 NA -0.939233362055195 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003616575 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00000698496_000 ENSE00000698496 000 15 74710185 74710354 - 33 93 44 NA NA NA NA NA TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 NA NA NA NA NA NA TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC natural NA NA NA NA NA 1169 1389 0.984424471306315 0.995472156276517 0.989948313791416 NA NA 0.984424471306315 0.995472156276517 NA NA 0 0 NA 0.989948313791416 NA 0 NA FALSE NA NA NA NA NA NA SEMA7A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA7A NA NA NA ENSG00000138623 ENSE00003535583 NA NA NA NA NA NA NA 0.0253934009542489 FALSE NA ENSE00000698496_003 ENSE00000698496 003 15 74710185 74710354 - 33 93 44 C T 74710218 1881 137 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTAGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417876 74417877 74417877 exon -1 1 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTAGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 53 165 1 0.999072041021063 0.999536020510531 NA NA 0.984424471306315 0.995472156276517 NA NA 0.0155755286936852 0.00359988474454564 NA 0.989948313791416 NA 0.00958770671911541 NA FALSE NA 1 4.069 . splice_region_variant&5_prime_UTR_variant LOW SEMA7A HGNC 10741 ENST00000567345 4/7 1 NA CCA C,T 8.237e-06 15:74417877 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 splice_region_variant 2.532527 0.93926 0.90108 0.722319 0.957294288263228 0 0.0253934009542489 FALSE 8.13425e-06 ENSE00000698496_004 ENSE00000698496 004 15 74710185 74710354 - 33 93 44 C T 74710240 1882 115 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCAGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417898 74417899 74417899 exon -23 0.763440860215054 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCAGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 696 185 1 1 1 NA NA 0.984424471306315 0.995472156276517 NA NA 0.0155755286936852 0.00452784372348281 NA 0.989948313791416 NA 0.010051686208584 NA FALSE NA 0.787 4.069 . 5_prime_UTR_variant MODIFIER SEMA7A HGNC 10741 ENST00000567345 4/7 1 NA CCG C,T 1.647e-05 15:74417899 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 missense_variant 3.819183 0.93693 0.89902 0.722319 0.986301492533361 0 0.0253934009542489 FALSE 1.22015e-05 ENSE00000698496_007 ENSE00000698496 007 15 74710185 74710354 - 33 93 44 T C 74710250 1885 105 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCGCCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417908 74417909 74417909 exon -33 0.655913978494624 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCGCCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 324 296 1 0.986717848785868 0.993358924392934 NA NA 0.984424471306315 0.995472156276517 NA NA 0.0155755286936852 -0.00875430749064887 NA 0.989948313791416 NA 0.00341061060151815 NA FALSE NA 1 4.174 . 5_prime_UTR_variant MODIFIER SEMA7A HGNC 10741 ENST00000567345 4/7 1 NA GTG T,C 8.237e-06 15:74417909 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 missense_variant 4.397239 0.93201 0.89729 0.722319 0.997928711657379 0 0.0253934009542489 FALSE NA ENSE00000698496_008 ENSE00000698496 008 15 74710185 74710354 - 33 93 44 C T 74710276 1886 79 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCAGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417934 74417935 74417935 exon 35 0.376344086021505 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCAGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 38 415 0.977426339714234 0.999170377428892 0.988298358571563 NA NA 0.984424471306315 0.995472156276517 NA NA -0.00699813159208074 0.00369822115237517 NA 0.989948313791416 NA -0.00164995521985278 NA FALSE NA 0 0.487 . 5_prime_UTR_variant MODIFIER SEMA7A HGNC 10741 ENST00000567345 4/7 1 NA CCG C,T 8.237e-06 15:74417935 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 missense_variant 2.737057 0.21738 0.02325 0.722319 0.989911227436009 0 0.0253934009542489 FALSE 8.13749e-06 ENSE00000698496_009 ENSE00000698496 009 15 74710185 74710354 - 33 93 44 G A 74710277 1887 78 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGTGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417935 74417936 74417936 exon 34 0.365591397849462 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGTGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 48 546 1 0.9139834908823 0.95699174544115 NA NA 0.984424471306315 0.995472156276517 NA NA 0.0155755286936852 -0.0814886653942168 NA 0.989948313791416 NA -0.0329565683502658 NA FALSE NA 0 0.303 . 5_prime_UTR_variant MODIFIER SEMA7A HGNC 10741 ENST00000567345 4/7 1 NA CGC G,A 4.119e-05 15:74417936 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 missense_variant 5.012327 0.26639 0.0903 0.722319 0.998299506922254 0 0.0253934009542489 FALSE 4.0702e-05 ENSE00000698496_011 ENSE00000698496 011 15 74710185 74710354 - 33 93 44 C G 74710278 1889 77 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGCCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417936 74417937 74417937 exon 33 0.354838709677419 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGCCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 110 534 1 1 1 NA NA 0.984424471306315 0.995472156276517 NA NA 0.0155755286936852 0.00452784372348281 NA 0.989948313791416 NA 0.010051686208584 NA FALSE NA 0 0.773 NA NA NA SEMA7A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:74417937 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 missense_variant 1.624463 0.27992 0.24585 0.722319 0.972458913737118 0 0.0253934009542489 FALSE 8.13941e-06 ENSE00000698496_014 ENSE00000698496 014 15 74710185 74710354 - 33 93 44 G A 74710293 1892 62 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATTACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417951 74417952 74417952 exon 18 0.193548387096774 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATTACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 137 106 1 1 1 NA NA 0.984424471306315 0.995472156276517 NA NA 0.0155755286936852 0.00452784372348281 NA 0.989948313791416 NA 0.010051686208584 NA FALSE NA 0.999 0.347 . 5_prime_UTR_variant MODIFIER SEMA7A HGNC 10741 ENST00000567345 4/7 1 NA TGA G,A 8.237e-06 15:74417952 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 synonymous_variant 1.588417 0.91894 0.74941 0.722319 0.854573587617323 0 0.0253934009542489 FALSE 4.07126e-06 ENSE00000698496_018 ENSE00000698496 018 15 74710185 74710354 - 33 93 44 G A 74710313 1896 42 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGTAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417971 74417972 74417972 upstr_intron -3 -0.0454545454545455 TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGTAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 71 157 1 1 1 NA NA 0.984424471306315 0.995472156276517 NA NA 0.0155755286936852 0.00452784372348281 NA 0.989948313791416 NA 0.010051686208584 NA FALSE NA 0.989 1.364 . splice_region_variant&intron_variant LOW SEMA7A HGNC 10741 ENST00000567345 3/6 1 NA TGC G,A 8.237e-06 15:74417972 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 splice_region_variant 1.581291 0.87522 0.74739 0.139865 0.787514400593439 0.49365 0.0253934009542489 FALSE 4.08614e-06 ENSE00000698496_021 ENSE00000698496 021 15 74710185 74710354 - 33 93 44 G A 74710327 1899 28 TCCAGCAACCAATTTCTCTCCTCCCTTTTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC 74417843 74418013 74417985 74417986 74417986 upstr_intron -17 -0.363636363636364 TCCAGCAACCAATTTCTCTCCTCCCTTTTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC TCCAGCAACCAATTTCTCTCCTCCCTTCTCTCTTCCCCGGGCAGGACTGCGAGAACTACATCACTCTCCTGGAGAGGCGGAGTGAGGGGCTGCTGGCCTGTGGCACCAACGCCCGGCACCCCAGCTGCTGGAACCTGGTGAGAAGGCTGCTCCCCATGTGCCTGATCAGC mutant NA NA NA NA NA 177 2447 0.999133106270654 0.996957592529612 0.998045349400133 NA NA 0.984424471306315 0.995472156276517 NA NA 0.0147086349643387 0.00148543625309527 NA 0.989948313791416 NA 0.008097035608717 NA FALSE NA 0 -0.567 . intron_variant MODIFIER SEMA7A HGNC 10741 ENST00000567345 3/6 1 NA AGA G,A 8.237e-05 15:74417986 SEMA7A HGNC Symbol protein_coding 24669 ENSG00000138623 ENSE00003535583 intron_variant 0.523926 0.17485 0.05684 0 0.788970962087957 0.132316 0.0253934009542489 FALSE 8.20143e-05 ENSE00000698734_000 ENSE00000698734 000 8 87556927 87557096 + 41 99 30 NA NA NA NA NA CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT 86544698 86544868 NA NA NA NA NA NA CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT natural NA NA NA NA NA 649 1863 0.618078314925222 0.547893376701417 0.582985845813319 NA NA 0.618078314925222 0.547893376701417 NA NA 0 0 NA 0.582985845813319 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE3 NA NA NA ENSG00000085719 ENSE00000698734 NA NA NA NA NA NA NA 5.16184252829367e-13 FALSE NA ENSE00000698734_002 ENSE00000698734 002 8 87556927 87557096 + 41 99 30 A C 87556941 1612 15 CTATATTGATTTTTCTATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT 86544698 86544868 86544712 86544713 86544713 upstr_intron -27 -0.634146341463415 CTATATTGATTTTTCTATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT mutant NA NA NA NA NA 219 118 1 1 1 NA NA 0.618078314925222 0.547893376701417 NA NA 0.381921685074778 0.452106623298583 NA 0.582985845813319 NA 0.417014154186681 NA FALSE NA 0 -0.619 NA NA NA CPNE3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:86544713 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000698734 intron_variant 0.524454 0.17025 0.05016 0.163922 0.752052102118871 0.125952 5.16184252829367e-13 FALSE 8.48191e-06 ENSE00000698734_008 ENSE00000698734 008 8 87556927 87557096 + 41 99 30 G A 87556970 1618 44 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTAGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT 86544698 86544868 86544741 86544742 86544742 exon 3 0.0303030303030303 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTAGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT mutant NA NA NA NA NA 40 20 1 1 1 NA NA 0.618078314925222 0.547893376701417 NA NA 0.381921685074778 0.452106623298583 NA 0.582985845813319 NA 0.417014154186681 NA FALSE NA 0.497 -0.288 rs149660315 splice_region_variant&synonymous_variant LOW CPNE3 HGNC 2316 ENST00000517391 5/10 rs149660315 1 A:0.0030 A:0.0106 A:0.0014 NA A:0 A:0 A:0 A:0.0127 A:0 TGG G,A 0.001079 8:86544742 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000698734 splice_region_variant 1.651492 0.96462 0.24739 0.706298 0.751505747099747 0 5.16184252829367e-13 FALSE 0.000811851 ENSE00000698734_014 ENSE00000698734 014 8 87556927 87557096 + 41 99 30 G T 87556997 1624 71 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGTTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT 86544698 86544868 86544768 86544769 86544769 exon 30 0.303030303030303 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGTTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT mutant NA NA NA NA NA 257 110 1 0.982169935712875 0.991084967856438 NA NA 0.618078314925222 0.547893376701417 NA NA 0.381921685074778 0.434276559011458 NA 0.582985845813319 NA 0.408099122043118 NA FALSE NA 0.056 -0.741 . synonymous_variant LOW CPNE3 HGNC 2316 ENST00000517391 5/10 rs548262405 1 NA GGT G,T 3.295e-05 8:86544769 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000698734 synonymous_variant 1.230524 0.89965 0.29332 0.732398 0.612100231284955 0 5.16184252829367e-13 FALSE 4.96363e-05 ENSE00000698734_018 ENSE00000698734 018 8 87556927 87557096 + 41 99 30 C T 87557051 1628 125 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCTTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT 86544698 86544868 86544822 86544823 86544823 exon -16 0.848484848484849 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCTTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT mutant NA NA NA NA NA 2231 508 0.994079402137141 0.999688549710803 0.996883975923972 NA NA 0.618078314925222 0.547893376701417 NA NA 0.37600108721192 0.451795173009385 NA 0.582985845813319 NA 0.413898130110653 NA FALSE NA 0.454 -0.395 . synonymous_variant LOW CPNE3 HGNC 2316 ENST00000517391 5/10 1 NA CCT C,T 8.236e-06 8:86544823 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000698734 synonymous_variant 2.30883 0.95408 0.35573 0.706298 0.557787971881197 0 5.16184252829367e-13 FALSE 4.31861e-06 ENSE00000698734_019 ENSE00000698734 019 8 87556927 87557096 + 41 99 30 C G 87557053 1629 127 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTGCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT 86544698 86544868 86544824 86544825 86544825 exon -14 0.868686868686869 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTGCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT mutant NA NA NA NA NA 108 23 1 0.95 0.975 NA NA 0.618078314925222 0.547893376701417 NA NA 0.381921685074778 0.402106623298583 NA 0.582985845813319 NA 0.392014154186681 NA FALSE NA 1 7.384 . missense_variant MODERATE CPNE3 HGNC 2316 ENST00000517391 5/10 1 tolerated(0.06) possibly_damaging(0.694) NA TCC C,G 2.471e-05 8:86544825 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000698734 missense_variant 3.630684 0.99529 0.99222 0.706298 0.992895635239881 0 5.16184252829367e-13 FALSE 1.29908e-05 ENSE00000698734_020 ENSE00000698734 020 8 87556927 87557096 + 41 99 30 C T 87557054 1630 128 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCTAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT 86544698 86544868 86544825 86544826 86544826 exon -13 0.878787878787879 CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCTAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT CTATATTGATTTTTATATATTTTTATTATATTTAATTTCAGGTGGAGTGTTATGATTATGACAATGATGGGTCACATGATCTCATTGGAACATTTCAGACCACCATGACAAAACTGAAAGAAGCCTCCAGAAGCTCACCTGTAAGTTACATCCTTGCATTTGCATATACT mutant NA NA NA NA NA 19 180 1 0.989066350027768 0.994533175013884 NA NA 0.618078314925222 0.547893376701417 NA NA 0.381921685074778 0.441172973326351 NA 0.582985845813319 NA 0.411547329200565 NA FALSE NA 0.03 -1.168 . synonymous_variant LOW CPNE3 HGNC 2316 ENST00000517391 5/10 1 NA CCA C,T 9.06e-05 8:86544826 CPNE3 HGNC Symbol protein_coding 47071 ENSG00000085719 ENSE00000698734 synonymous_variant 1.936604 0.97096 0.17588 0.706298 0.664043896815722 0 5.16184252829367e-13 FALSE 0.00011828 ENSE00000699206_000 ENSE00000699206 000 4 2895690 2895859 + 50 81 39 NA NA NA NA NA CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 NA NA NA NA NA NA CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG natural 28 44 0.994157712731634 0.987630318087548 0.990894015409591 2155 1945 0.973525972980984 0.994606442098548 0.984066207539766 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 0 0 0 0 0.990894015409591 0.984066207539766 0 0 0 FALSE FALSE NA NA NA NA NA ADD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADD1 NA NA NA ENSG00000087274 ENSE00003473521 NA NA NA NA NA NA NA 0.611299255784318 FALSE NA ENSE00000699206_001 ENSE00000699206 001 4 2895690 2895859 + 50 81 39 T C 2895703 134 14 CAAATAATTTCACCTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2893975 2893976 2893976 upstr_intron -37 -0.72 CAAATAATTTCACCTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 77 408 0.95 0.959528141485855 0.954764070742927 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA -0.0235259729809837 -0.035078300612693 0.990894015409591 0.984066207539766 NA -0.0293021367968384 NA FALSE NA 0 0.16 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 5/17 1 NA CTT T,C 2.471e-05 4:2893976 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 intron_variant 0.105182 0.1714 0.02469 0.295142 0.574488954350394 0.0819152 0.611299255784318 FALSE 2.4395e-05 ENSE00000699206_002 ENSE00000699206 002 4 2895690 2895859 + 50 81 39 C T 2895709 135 20 CAAATAATTTCACTTGGATTTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2893981 2893982 2893982 upstr_intron -31 -0.6 CAAATAATTTCACTTGGATTTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 531 1484 0.97731047843207 0.986592010569454 0.981951244500762 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA 0.00378450545108611 -0.0080144315290942 0.990894015409591 0.984066207539766 NA -0.00211496303900405 NA FALSE NA 0 0.195 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 5/17 1 NA TCT C,T 1.647e-05 4:2893982 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 intron_variant 0.379636 0.09394 0.00264 0.295142 0.771386645867495 0.0819152 0.611299255784318 FALSE 1.22029e-05 ENSE00000699206_003 ENSE00000699206 003 4 2895690 2895859 + 50 81 39 G A 2895715 136 26 CAAATAATTTCACTTGGATCTTTGAACTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2893987 2893988 2893988 upstr_intron -25 -0.48 CAAATAATTTCACTTGGATCTTTGAACTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 548 412 0.998412193505526 1 0.999206096752763 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA 0.0248862205245427 0.00539355790145191 0.990894015409591 0.984066207539766 NA 0.0151398892129973 NA FALSE NA 0 -0.168 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 5/17 1 NA AGC G,A 8.236e-06 4:2893988 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 intron_variant 0.291378 0.16685 0.05935 0.295142 0.701491566302069 0.0819152 0.611299255784318 FALSE 1.21923e-05 ENSE00000699206_004 ENSE00000699206 004 4 2895690 2895859 + 50 81 39 A C 2895718 137 29 CAAATAATTTCACTTGGATCTTTGAGCTCATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2893990 2893991 2893991 upstr_intron -22 -0.42 CAAATAATTTCACTTGGATCTTTGAGCTCATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 291 69 0.8 0.8 0.8 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA -0.173525972980984 -0.194606442098548 0.990894015409591 0.984066207539766 NA -0.184066207539766 NA FALSE NA 0.002 -0.199 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 5/17 1 NA TAA A,C 8.236e-06 4:2893991 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 intron_variant 0.23696 0.15151 0.13655 0.295142 0.598099304466379 0.0819152 0.611299255784318 FALSE 4.06511e-06 ENSE00000699206_005 ENSE00000699206 005 4 2895690 2895859 + 50 81 39 C T 2895726 138 37 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTTATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2893998 2893999 2893999 upstr_intron -14 -0.26 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTTATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 661 411 0.993464336511355 1 0.996732168255678 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA 0.0199383635303716 0.00539355790145191 0.990894015409591 0.984066207539766 NA 0.0126659607159118 NA FALSE NA 0 -1.005 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 5/17 1 NA TCA C,T 8.236e-06 4:2893999 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 intron_variant 1.190214 0.22278 0.06299 0.295142 0.75001908282329 0.0819152 0.611299255784318 FALSE 4.06835e-06 ENSE00000699206_006 ENSE00000699206 006 4 2895690 2895859 + 50 81 39 A G 2895727 139 38 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCGTTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2893999 2894000 2894000 upstr_intron -13 -0.24 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCGTTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 86 350 1 0.999344917829516 0.999672458914758 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA 0.0264740270190164 0.00473847573096775 0.990894015409591 0.984066207539766 NA 0.0156062513749921 NA FALSE NA 0 -0.833 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 5/17 rs536052987 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 CAT A,G 1.647e-05 4:2894000 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 intron_variant 1.117565 0.18227 0.07288 0.295142 0.62889331549091 0.0819152 0.611299255784318 FALSE 1.62764e-05 ENSE00000699206_007 ENSE00000699206 007 4 2895690 2895859 + 50 81 39 C T 2895734 140 45 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCTCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2894006 2894007 2894007 upstr_intron -6 -0.1 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCTCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 1096 909 0.756715729532459 0.8 0.77835786476623 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA -0.216810243448524 -0.194606442098548 0.990894015409591 0.984066207539766 NA -0.205708342773536 NA FALSE NA 0 0.292 . splice_region_variant&intron_variant LOW ADD1 HGNC 243 ENST00000355842 5/17 1 NA CCC C,T 8.236e-06 4:2894007 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 splice_region_variant 1.297016 0.22997 0.06559 0.295142 0.767539993152613 0.206858 0.611299255784318 FALSE 4.06273e-06 ENSE00000699206_008 ENSE00000699206 008 4 2895690 2895859 + 50 81 39 G C 2895744 141 55 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCACAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2894016 2894017 2894017 exon 5 0.0617283950617284 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCACAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 1282 187 0.994747889911979 0.973746815497675 0.984247352704827 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA 0.0212219169309958 -0.0208596266008735 0.990894015409591 0.984066207539766 NA 0.000181145165061181 NA FALSE NA 1 7.93 . missense_variant MODERATE ADD1 HGNC 243 ENST00000355842 6/18 1 deleterious(0) probably_damaging(0.948) NA AGA G,C 8.236e-06 4:2894017 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 missense_variant 5.96584 0.99164 0.99341 0.719381 0.988222779602647 0 0.611299255784318 FALSE 4.06085e-06 ENSE00000699206_011 ENSE00000699206 011 4 2895690 2895859 + 50 81 39 A G 2895773 144 84 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCGTTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2894045 2894046 2894046 exon 34 0.419753086419753 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCGTTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 17 307 1 0.989986690959689 0.994993345479844 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA 0.0264740270190164 -0.00461975113885926 0.990894015409591 0.984066207539766 NA 0.0109271379400785 NA FALSE NA 1 6.223 . missense_variant MODERATE ADD1 HGNC 243 ENST00000355842 6/18 1 tolerated(0.16) benign(0.026) NA CAT A,G 4.118e-05 4:2894046 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 missense_variant 2.442679 0.99292 0.99126 0.719381 0.996364259820757 0 0.611299255784318 FALSE 2.43641e-05 ENSE00000699206_013 ENSE00000699206 013 4 2895690 2895859 + 50 81 39 T G 2895828 146 139 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAAGGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2894100 2894101 2894101 downstr_intron 8 1.21052631578947 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAAGGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 207 541 0.8 0.800467279607966 0.800233639803983 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA -0.173525972980984 -0.194139162490582 0.990894015409591 0.984066207539766 NA -0.183832567735783 NA FALSE NA 0 -0.141 . splice_region_variant&intron_variant LOW ADD1 HGNC 243 ENST00000355842 6/17 rs376987178 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 G:0.0014 G:0 ATG T,G 0.0001071 4:2894101 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 splice_region_variant 0.177803 0.13463 0.04688 0.099367 0.674543551992642 0.0595032 0.611299255784318 FALSE 7.31e-05 ENSE00000699206_014 ENSE00000699206 014 4 2895690 2895859 + 50 81 39 T C 2895830 147 141 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGCCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2894102 2894103 2894103 downstr_intron 10 1.26315789473684 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGCCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 63 673 0.986889086343424 0.995583228942812 0.991236157643118 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA 0.0133631133624408 0.000976786844263944 0.990894015409591 0.984066207539766 NA 0.00716995010335236 NA FALSE NA 0 0.134 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 6/17 1 NA GTC T,C 1.647e-05 4:2894103 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 intron_variant 0.384707 0.19298 0.06394 0.099367 0.727754295986605 0.0595032 0.611299255784318 FALSE 2.43671e-05 ENSE00000699206_015 ENSE00000699206 015 4 2895690 2895859 + 50 81 39 T C 2895838 148 149 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCCTTGGCAGCTTGTATGTGCAGG 2893962 2894132 2894110 2894111 2894111 downstr_intron 18 1.47368421052632 CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCCTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG mutant NA NA NA NA NA 324 206 0.985709033496142 0.90771542430369 0.946712228899916 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 NA NA 0.0121830605151582 -0.0868910177948581 0.990894015409591 0.984066207539766 NA -0.03735397863985 NA FALSE NA 0.459 1.218 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 6/17 1 NA CTT T,C 8.236e-06 4:2894111 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003473521 intron_variant 0.273446 0.28648 0.05332 0.099367 0.821696895524928 0.0659889 0.611299255784318 FALSE 4.06151e-06 ENSE00000699206_BRK ENSE00000699206 BRK 4 2895690 2895859 + 50 81 39 A,G; T,T NA NA NA CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACTTACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGCCAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG 2893962 2894132 NA NA NA NA NA NA CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACTTACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGCCAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG CAAATAATTTCACTTGGATCTTTGAGCTAATTCAGTCATTTTCCCCACAGACCAGAGTGAACTCCGAGCAGGAACACTTCCTCATTGTCCCTTTTGGGCTTCTTTACAGTGAAGTGACTGCATCCAGTTTGGTAAGAATGTCCTTCTCTTTGGCAGCTTGTATGTGCAGG control 271 123 0 0 0 NA NA NA NA NA 0.994157712731634 0.987630318087548 0.973525972980984 0.994606442098548 -0.994157712731634 -0.987630318087548 NA NA 0.990894015409591 0.984066207539766 -0.990894015409591 NA NA NA TRUE NA NA NA NA NA ADD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADD1 NA NA NA ENSG00000087274 ENSE00003473521 NA NA NA NA NA NA NA 0.611299255784318 FALSE NA ENSE00000699242_000 ENSE00000699242 000 4 2910197 2910366 + 45 90 35 NA NA NA NA NA GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 NA NA NA NA NA NA GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG natural 3489 5224 0.846899857880091 0.84475223868438 0.845826048282236 3990 3342 0.89037279080908 0.905068620844238 0.897720705826659 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 0 0 0 0 0.845826048282236 0.897720705826659 0 0 0 FALSE FALSE NA NA NA NA NA ADD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADD1 NA NA NA ENSG00000087274 ENSE00003475370 NA NA NA NA NA NA NA 0.611299255784318 FALSE NA ENSE00000699242_001 ENSE00000699242 001 4 2910197 2910366 + 45 90 35 T G 2910210 151 14 GGCTGCTCAGGACGGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908482 2908483 2908483 upstr_intron -32 -0.688888888888889 GGCTGCTCAGGACGGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 121 1292 0.854526219845241 0.925186830372536 0.889856525108889 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.0358465709638385 0.0201182095282975 0.845826048282236 0.897720705826659 NA -0.00786418071777051 NA FALSE NA 0.747 0.556 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 12/17 rs369128264 1 NA G:0 G:0.0001 CTG C,G 2.471e-05 4:2908483 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 intron_variant 0.424569 0.29795 0.20757 0.256867 0.520493410660943 0.158006 0.611299255784318 FALSE 1.22124e-05 ENSE00000699242_002 ENSE00000699242 002 4 2910197 2910366 + 45 90 35 G A 2910211 152 15 GGCTGCTCAGGACTATTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908483 2908484 2908484 upstr_intron -31 -0.666666666666667 GGCTGCTCAGGACTATTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 2067 936 0.991135034283434 0.945731366836681 0.968433200560057 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA 0.100762243474354 0.0406627459924425 0.845826048282236 0.897720705826659 NA 0.0707124947333982 NA FALSE NA 0.732 1.437 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 12/17 rs377479734 1 NA A:0.0002 A:0.0001 TGT G,A 0.0001483 4:2908484 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 intron_variant 0.205267 0.25956 0.25193 0.256867 0.51271240598425 0.158006 0.611299255784318 FALSE 0.000162771 ENSE00000699242_003 ENSE00000699242 003 4 2910197 2910366 + 45 90 35 G T 2910217 153 21 GGCTGCTCAGGACTGTTGATTTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908489 2908490 2908490 upstr_intron -25 -0.533333333333333 GGCTGCTCAGGACTGTTGATTTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 561 779 0.943515581010073 0.953612467199568 0.948564024104821 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA 0.0531427902009933 0.0485438463553296 0.845826048282236 0.897720705826659 NA 0.0508433182781615 NA FALSE NA 0 -0.478 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 12/17 1 NA TGT G,T 1.647e-05 4:2908490 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 intron_variant -0.234702 0.15853 0.06097 0.256867 0.625032098081577 0.158006 0.611299255784318 FALSE 1.62628e-05 ENSE00000699242_004 ENSE00000699242 004 4 2910197 2910366 + 45 90 35 T C 2910226 154 30 GGCTGCTCAGGACTGTTGATGTGTGCCTCCCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908498 2908499 2908499 upstr_intron -16 -0.333333333333333 GGCTGCTCAGGACTGTTGATGTGTGCCTCCCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 588 322 0.00130343552647132 0 0.000651717763235662 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.889069355282609 -0.905068620844238 0.845826048282236 0.897720705826659 NA -0.897068988063424 NA TRUE NA 0.002 0.721 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 12/17 1 NA CTC T,C 8.236e-06 4:2908499 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 intron_variant 0.353432 0.32783 0.30492 0.256867 0.756723167509312 0.158006 0.611299255784318 FALSE 4.06197e-06 ENSE00000699242_005 ENSE00000699242 005 4 2910197 2910366 + 45 90 35 C G 2910227 155 31 GGCTGCTCAGGACTGTTGATGTGTGCCTCTGCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908499 2908500 2908500 upstr_intron -15 -0.311111111111111 GGCTGCTCAGGACTGTTGATGTGTGCCTCTGCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 90 763 0.899916270651521 0.923036740505164 0.911476505578342 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA 0.0095434798424413 0.0179681196609255 0.845826048282236 0.897720705826659 NA 0.0137557997516834 NA FALSE NA 0 -0.154 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 12/17 1 NA TCC C,G 8.236e-06 4:2908500 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 intron_variant 0.210512 0.28792 0.18091 0.256867 0.595140593244641 0.158006 0.611299255784318 FALSE 4.062e-06 ENSE00000699242_006 ENSE00000699242 006 4 2910197 2910366 + 45 90 35 C T 2910231 156 35 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTTCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908503 2908504 2908504 upstr_intron -11 -0.222222222222222 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTTCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 206 182 0.999800055207711 0.996997147156181 0.998398601181946 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA 0.109427264398631 0.0919285263119429 0.845826048282236 0.897720705826659 NA 0.100677895355287 NA FALSE NA 0.003 0.14 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 12/17 rs202230760 1 T:0.0004 T:0 T:0.0029 NA T:0 T:0 T:0 TCC C,T 2.471e-05 4:2908504 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 intron_variant 0.590281 0.375 0.22301 0.256867 0.640343852820777 0.235958 0.611299255784318 FALSE 1.21866e-05 ENSE00000699242_007 ENSE00000699242 007 4 2910197 2910366 + 45 90 35 A G 2910234 157 38 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCGCCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908506 2908507 2908507 upstr_intron -8 -0.155555555555556 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCGCCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 94 324 0.872892113655337 0.848278502843979 0.860585308249658 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.0174806771537426 -0.0567901180002589 0.845826048282236 0.897720705826659 NA -0.0371353975770007 NA FALSE NA 0 -3.87 . splice_region_variant&intron_variant LOW ADD1 HGNC 243 ENST00000355842 12/17 1 NA CAC A,G 8.236e-06 4:2908507 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 splice_region_variant -0.373989 0.13755 0.03106 0.256867 0.465861180657904 0.235725 0.611299255784318 FALSE 1.21854e-05 ENSE00000699242_008 ENSE00000699242 008 4 2910197 2910366 + 45 90 35 C A 2910235 158 39 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCAACCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908507 2908508 2908508 upstr_intron -7 -0.133333333333333 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCAACCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 183 538 0.00375307487464237 0.0304096836760508 0.0170813792753466 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.886619715934437 -0.874658937168188 0.845826048282236 0.897720705826659 NA -0.880639326551312 NA TRUE NA 0.001 0.2 . splice_region_variant&intron_variant LOW ADD1 HGNC 243 ENST00000355842 12/17 1 NA ACC C,A 8.236e-06 4:2908508 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 splice_region_variant 0.316265 0.37553 0.25368 0.256867 0.546119530818234 0.235647 0.611299255784318 FALSE 4.06207e-06 ENSE00000699242_009 ENSE00000699242 009 4 2910197 2910366 + 45 90 35 A G 2910240 159 44 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCGGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908512 2908513 2908513 upstr_intron -2 -0.0222222222222222 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCGGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 322 650 0.179050535504221 0.0461004042351203 0.112575469869671 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.711322255304859 -0.858968216609118 0.845826048282236 0.897720705826659 NA -0.785145235956988 NA TRUE NA 1 8.82 . splice_acceptor_variant HIGH ADD1 HGNC 243 ENST00000355842 12/17 1 NA HC CAG A,G 8.236e-06 4:2908513 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 splice_acceptor_variant 5.346429 0.97831 0.98517 0.256867 0.995288209277437 0.98122 0.611299255784318 FALSE 4.06144e-06 ENSE00000699242_010 ENSE00000699242 010 4 2910197 2910366 + 45 90 35 G C 2910262 160 66 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACACGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908534 2908535 2908535 exon 21 0.233333333333333 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACACGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 2021 331 0.929512770627545 0.937504808797799 0.933508789712672 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA 0.039139979818465 0.0324361879535608 0.845826048282236 0.897720705826659 NA 0.0357880838860129 NA FALSE NA 1 3.117 . missense_variant MODERATE ADD1 HGNC 243 ENST00000355842 13/18 1 tolerated(0.32) probably_damaging(0.998) NA AGG G,C 8.236e-06 4:2908535 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 missense_variant 3.591524 0.95345 0.94844 0.706548 0.995803215534278 0 0.611299255784318 FALSE 4.06101e-06 ENSE00000699242_011 ENSE00000699242 011 4 2910197 2910366 + 45 90 35 C T 2910265 161 69 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGATATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908537 2908538 2908538 exon 24 0.266666666666667 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGATATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 1482 143 0.800528080082415 0.788138509111554 0.794333294596985 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.0898447107266646 -0.116930111732684 0.845826048282236 0.897720705826659 NA -0.103387411229674 NA FALSE NA 1 1.902 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:2908538 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 synonymous_variant 1.541211 0.94061 0.80986 0.706548 0.601981988847387 0 0.611299255784318 FALSE 0.000288323 ENSE00000699242_012 ENSE00000699242 012 4 2910197 2910366 + 45 90 35 C A 2910265 162 69 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGAAATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908537 2908538 2908538 exon 24 0.266666666666667 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGAAATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 608 823 0.796763102521332 0.8 0.798381551260666 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.0936096882877483 -0.105068620844238 0.845826048282236 0.897720705826659 NA -0.0993391545659933 NA FALSE NA 1 1.902 NA NA NA ADD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADD1 NA NA NA ENSG00000087274 ENSE00003475370 missense_variant 5.487796 0.95154 0.92411 0.706548 0.997666490750096 0 0.611299255784318 FALSE 4.06088e-06 ENSE00000699242_013 ENSE00000699242 013 4 2910197 2910366 + 45 90 35 A G 2910266 163 70 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACGTTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908538 2908539 2908539 exon 25 0.277777777777778 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACGTTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 1654 964 0.961932210687248 0.986752487571126 0.974342349129187 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA 0.0715594198781686 0.0816838667268874 0.845826048282236 0.897720705826659 NA 0.076621643302528 NA FALSE NA 1 4.887 . missense_variant MODERATE ADD1 HGNC 243 ENST00000355842 13/18 rs199531446 1 tolerated(1) benign(0.011) NA CAT A,G 2.471e-05 4:2908539 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 missense_variant 0.908844 0.95696 0.95667 0.706548 0.97195380944518 0 0.611299255784318 FALSE 2.43651e-05 ENSE00000699242_014 ENSE00000699242 014 4 2910197 2910366 + 45 90 35 G A 2910308 164 112 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAATGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908580 2908581 2908581 exon -24 0.744444444444444 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAATGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 727 135 0.964356112724421 0.969072165439062 0.966714139081741 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA 0.073983321915341 0.0640035445948236 0.845826048282236 0.897720705826659 NA 0.0689934332550823 NA FALSE NA 1 3.073 rs146536048 missense_variant MODERATE ADD1 HGNC 243 ENST00000355842 13/18 rs146536048 1 deleterious(0.04) benign(0.089) A:0.0062 A:0.0174 A:0.0029 NA A:0 A:0.003 A:0.0031 A:0.0118 A:0.0038 AGT G,A 0.003846 4:2908581 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 missense_variant 4.107791 0.98587 0.97963 0.706548 0.996594727594747 0 0.611299255784318 FALSE 0.00341175 ENSE00000699242_017 ENSE00000699242 017 4 2910197 2910366 + 45 90 35 T C 2910327 167 131 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGCCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908599 2908600 2908600 exon -5 0.955555555555556 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGCCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 310 756 0.687490136919761 0.815934730809964 0.751712433864862 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.202882653889319 -0.0891338900342747 0.845826048282236 0.897720705826659 NA -0.146008271961797 NA FALSE NA 1 3.848 . missense_variant MODERATE ADD1 HGNC 243 ENST00000355842 13/18 1 tolerated(0.23) benign(0.04) NA GTC T,C 8.236e-06 4:2908600 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 missense_variant 1.39282 0.98542 0.97615 0.706548 0.995319736461073 0 0.611299255784318 FALSE 4.06322e-06 ENSE00000699242_018 ENSE00000699242 018 4 2910197 2910366 + 45 90 35 C T 2910340 168 144 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCTCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 2908612 2908613 2908613 downstr_intron 9 1.26470588235294 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCTCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 2044 136 0.8 0.802916469555108 0.801458234777554 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.0903727908090798 -0.10215215128913 0.845826048282236 0.897720705826659 NA -0.0962624710491051 NA FALSE NA 0.001 0.171 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 13/17 1 NA CCC C,T 8.236e-06 4:2908613 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 non_coding_transcript_exon_variant 1.905109 0.17397 0.0185 0.156188 0.796270777209435 0.293456 0.611299255784318 FALSE 4.06673e-06 ENSE00000699242_019 ENSE00000699242 019 4 2910197 2910366 + 45 90 35 G T 2910353 169 157 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTTACTTTAGTGGGTG 2908469 2908639 2908625 2908626 2908626 downstr_intron 22 1.64705882352941 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTTACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 858 943 0.818700627647943 0.664342155998859 0.741521391823401 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.0716721631611369 -0.240726464845379 0.845826048282236 0.897720705826659 NA -0.156199314003258 NA FALSE NA 0.219 2.1 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 13/17 1 NA TGA G,T 8.237e-06 4:2908626 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 non_coding_transcript_exon_variant 1.796518 0.37784 0.43733 0.099367 0.776185648360031 0.275874 0.611299255784318 FALSE 8.1481e-06 ENSE00000699242_020 ENSE00000699242 020 4 2910197 2910366 + 45 90 35 C G 2910355 170 159 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGAGTTTAGTGGGTG 2908469 2908639 2908627 2908628 2908628 downstr_intron 24 1.70588235294118 GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGAGTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG mutant NA NA NA NA NA 1248 643 0.826391607384239 0.806522734825556 0.816457171104898 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 NA NA -0.0639811834248407 -0.0985458860186824 0.845826048282236 0.897720705826659 NA -0.0812635347217616 NA FALSE NA 0 0.244 . intron_variant MODIFIER ADD1 HGNC 243 ENST00000355842 13/17 1 NA ACT C,G 8.236e-06 4:2908628 ADD1 HGNC Symbol protein_coding 86219 ENSG00000087274 ENSE00003475370 non_coding_transcript_exon_variant 1.729535 0.44635 0.47538 0.099367 0.660105178078374 0.376227 0.611299255784318 FALSE 4.07588e-06 ENSE00000699242_BRK ENSE00000699242 BRK 4 2910197 2910366 + 45 90 35 A,G; T,T NA NA NA GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCTTATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGCCGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG 2908469 2908639 NA NA NA NA NA NA GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCTTATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGCCGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG GGCTGCTCAGGACTGTTGATGTGTGCCTCTCCTTCCCACCCTCAGATCCGAGAGCAGAATTTACAGGACATTAAGACGGCTGGCCCTCAGTCCCAGGTTTTGTGTGGTGTAGTGATGGACAGGAGCCTCGTCCAGGTGAGAGCCCAGAGTGTCTCTGACTTTAGTGGGTG control 1258 1230 0.0125078625937158 0.00529628816791533 0.00890207538081557 NA NA NA NA NA 0.846899857880091 0.84475223868438 0.89037279080908 0.905068620844238 -0.834391995286375 -0.839455950516465 NA NA 0.845826048282236 0.897720705826659 -0.83692397290142 NA NA NA TRUE NA NA NA NA NA ADD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADD1 NA NA NA ENSG00000087274 ENSE00003475370 NA NA NA NA NA NA NA 0.611299255784318 FALSE NA ENSE00000699695_000 ENSE00000699695 000 19 36215849 36216018 + 41 99 30 NA NA NA NA NA CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG 35724947 35725117 NA NA NA NA NA NA CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG natural 22 19 0.998731025232295 0.997558175885175 0.998144600558735 905 139 0.995194011076426 0.981744618100291 0.988469314588359 0.998731025232295 0.997558175885175 0.995194011076426 0.981744618100291 0 0 0 0 0.998144600558735 0.988469314588359 0 0 0 FALSE FALSE NA NA NA NA NA KMT2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KMT2B NA NA NA ENSG00000272333 ENSE00000699695 NA NA NA NA NA NA NA 0.999999997452585 TRUE NA ENSE00000699695_008 ENSE00000699695 008 19 36215849 36216018 + 41 99 30 C T 36215907 2203 59 CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGTCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG 35724947 35725117 35725005 35725006 35725006 exon 18 0.181818181818182 CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGTCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG mutant NA NA NA NA NA 481 40 0.998403213637032 1 0.999201606818516 0.998731025232295 0.997558175885175 0.995194011076426 0.981744618100291 NA NA 0.00320920256060608 0.0182553818997089 0.998144600558735 0.988469314588359 NA 0.0107322922301575 NA FALSE NA 0.904 -0.06 . downstream_gene_variant MODIFIER KMT2B Uniprot_gn 15840 ENST00000341701 1 NA GCC C,T 8.269e-06 19:35725006 KMT2B HGNC Symbol protein_coding 20859 ENSG00000272333 ENSE00000699695 synonymous_variant 1.893757 0.95902 0.84069 0.706548 0.66896071255188 0 0.999999997452585 TRUE 4.0627e-06 ENSE00000699695_009 ENSE00000699695 009 19 36215849 36216018 + 41 99 30 C T 36215908 2204 60 CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCTCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG 35724947 35725117 35725006 35725007 35725007 exon 19 0.191919191919192 CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCTCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG mutant NA NA NA NA NA 31 448 0.987405315674056 1 0.993702657837028 0.998731025232295 0.997558175885175 0.995194011076426 0.981744618100291 NA NA -0.00778869540237037 0.0182553818997089 0.998144600558735 0.988469314588359 NA 0.00523334324866925 NA FALSE NA 0.93 0.31 . downstream_gene_variant MODIFIER KMT2B Uniprot_gn 15840 ENST00000341701 1 NA CCC C,T 8.269e-06 19:35725007 KMT2B HGNC Symbol protein_coding 20859 ENSG00000272333 ENSE00000699695 missense_variant 2.941251 0.97979 0.80176 0.706548 0.932454920269074 0 0.999999997452585 TRUE 1.21877e-05 ENSE00000699695_011 ENSE00000699695 011 19 36215849 36216018 + 41 99 30 T G 36215917 2206 69 CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTGCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG 35724947 35725117 35725015 35725016 35725016 exon 28 0.282828282828283 CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTGCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG CCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAG mutant NA NA NA NA NA 13 105 1 0.998905195377067 0.999452597688534 0.998731025232295 0.997558175885175 0.995194011076426 0.981744618100291 NA NA 0.00480598892357409 0.0171605772767761 0.998144600558735 0.988469314588359 NA 0.0109832831001751 NA FALSE NA 0.143 -0.108 . downstream_gene_variant MODIFIER KMT2B Uniprot_gn 15840 ENST00000341701 rs368009148 1 NA G:0.0002 G:0 TTC T,G 0.0001489 19:35725016 KMT2B HGNC Symbol protein_coding 20859 ENSG00000272333 ENSE00000699695 missense_variant 1.228523 0.94648 0.11348 0.706548 0.734941208107267 0 0.999999997452585 TRUE 0.000138116 ENSE00000699780_000 ENSE00000699780 000 15 79220010 79220179 - 45 69 56 NA NA NA NA NA GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 NA NA NA NA NA NA GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG natural 440 697 0.846253711280202 0.840459677617499 0.84335669444885 289 409 0.88252782376529 0.898025496808141 0.890276660286716 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 0 0 0 0 0.84335669444885 0.890276660286716 0 0 0 FALSE FALSE NA NA NA NA NA CTSH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTSH NA NA NA ENSG00000103811 ENSE00003537664 NA NA NA NA NA NA NA 3.17314560149624e-06 FALSE NA ENSE00000699780_001 ENSE00000699780 001 15 79220010 79220179 - 45 69 56 A T 79220021 2139 159 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGAGTCCTGATGAG 78927667 78927837 78927678 78927679 78927679 downstr_intron 34 1.77272727272727 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGAGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 166 149 0.85 0.85 0.85 581 374 0.825489834217595 0.836904784397987 0.831197309307791 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 0.00374628871979787 0.00954032238250135 -0.0570379895476947 -0.0611207124101545 0.84335669444885 0.890276660286716 0.00664330555114961 -0.0590793509789246 0.0657226565300742 FALSE FALSE 0 -0.23 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 rs200357213 1 NA CAC A,T 8.236e-06 15:78927679 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 non_coding_transcript_exon_variant -0.039678 0.15013 0.25145 0.283894 0.707285666943976 0.0741836 3.17314560149624e-06 FALSE 1.21991e-05 ENSE00000699780_004 ENSE00000699780 004 15 79220010 79220179 - 45 69 56 C T 79220032 2142 148 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGAATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927689 78927690 78927690 downstr_intron 23 1.52272727272727 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGAATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 79 134 0.8 0.8 0.8 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.0825278237652899 -0.0980254968081412 0.84335669444885 0.890276660286716 NA -0.0902766602867155 NA FALSE NA 0 0.215 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA TCC C,T 0.0001647 15:78927690 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 non_coding_transcript_exon_variant 0.296675 0.14717 0.21592 0.283894 0.70683454413401 0.0741836 3.17314560149624e-06 FALSE 0.0001016 ENSE00000699780_005 ENSE00000699780 005 15 79220010 79220179 - 45 69 56 G A 79220038 2143 142 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCTTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927695 78927696 78927696 downstr_intron 17 1.38636363636364 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCTTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 142 401 0.8 0.8 0.8 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.0825278237652899 -0.0980254968081412 0.84335669444885 0.890276660286716 NA -0.0902766602867155 NA FALSE NA 0.081 1.177 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 rs569758944 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 AGG G,A 3.295e-05 15:78927696 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 non_coding_transcript_exon_variant 0.159221 0.169 0.22397 0.283894 0.368888329177186 0.0741836 3.17314560149624e-06 FALSE 2.4378e-05 ENSE00000699780_006 ENSE00000699780 006 15 79220010 79220179 - 45 69 56 G C 79220039 2144 141 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCGCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927696 78927697 78927697 downstr_intron 16 1.36363636363636 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCGCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 129 67 0.857162117210832 0.770776400377241 0.813969258794036 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.0253657065544582 -0.1272490964309 0.84335669444885 0.890276660286716 NA -0.0763074014926792 NA FALSE NA 0.013 -0.208 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA GGG G,C 8.236e-06 15:78927697 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 non_coding_transcript_exon_variant -0.327638 0.13575 0.06443 0.283894 0.380988884734605 0.0741836 3.17314560149624e-06 FALSE 4.06306e-06 ENSE00000699780_008 ENSE00000699780 008 15 79220010 79220179 - 45 69 56 C T 79220045 2146 135 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCAATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927702 78927703 78927703 downstr_intron 10 1.22727272727273 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCAATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 21 230 1 0.95 0.975 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA 0.11747217623471 0.0519745031918588 0.84335669444885 0.890276660286716 NA 0.0847233397132844 NA FALSE NA 0 -1.613 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:78927703 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 non_coding_transcript_exon_variant 0.174523 0.14603 0.06399 0.283894 0.376264377431554 0.0741836 3.17314560149624e-06 FALSE 4.46889e-05 ENSE00000699780_009 ENSE00000699780 009 15 79220010 79220179 - 45 69 56 C G 79220045 2147 135 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCCATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927702 78927703 78927703 downstr_intron 10 1.22727272727273 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCCATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 92 108 0 0 0 NA NA NA NA NA 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 -0.846253711280202 -0.840459677617499 NA NA 0.84335669444885 0.890276660286716 -0.84335669444885 NA NA NA TRUE 0 -1.613 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTSH NA NA NA ENSG00000103811 ENSE00003537664 non_coding_transcript_exon_variant 0.064011 0.15174 0.2361 0.283894 0.360296999236012 0.0741836 3.17314560149624e-06 FALSE 4.06263e-06 ENSE00000699780_013 ENSE00000699780 013 15 79220010 79220179 - 45 69 56 C G 79220054 2151 126 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCCTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927711 78927712 78927712 downstr_intron 1 1.02272727272727 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCCTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 33 562 0 0 0 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.88252782376529 -0.898025496808141 0.84335669444885 0.890276660286716 NA -0.890276660286716 NA TRUE NA 1 5.938 NA NA NA CTSH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:78927712 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 splice_donor_variant 4.064344 0.93161 0.96753 0.283894 0.991594940773235 0.960255 3.17314560149624e-06 FALSE 1.62467e-05 ENSE00000699780_014 ENSE00000699780 014 15 79220010 79220179 - 45 69 56 G A 79220055 2152 125 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATTGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927712 78927713 78927713 exon -1 1 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATTGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 160 163 0.994200330505695 0.999766180977057 0.996983255741376 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA 0.111672506740405 0.101740684168916 0.84335669444885 0.890276660286716 NA 0.106706595454661 NA FALSE NA 0 -3.436 rs144589404 upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 rs144589404&COSM965440 1 NA A:0.0002 A:0 CGA G,A 1.647e-05 15:78927713 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 splice_region_variant -0.18633 0.08156 0.0668 0.631515 0.539120719619788 0 3.17314560149624e-06 FALSE 1.21852e-05 ENSE00000699780_015 ENSE00000699780 015 15 79220010 79220179 - 45 69 56 G A 79220067 2153 113 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCTAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927724 78927725 78927725 exon -13 0.826086956521739 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCTAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 509 520 0 0 0 NA NA NA NA NA 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 -0.846253711280202 -0.840459677617499 NA NA 0.84335669444885 0.890276660286716 -0.84335669444885 NA NA NA TRUE 1 2.628 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA TGG G,A 8.236e-06 15:78927725 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 synonymous_variant 0.738894 0.87948 0.89556 0.631515 0.509344586363592 0 3.17314560149624e-06 FALSE 4.06105e-06 ENSE00000699780_016 ENSE00000699780 016 15 79220010 79220179 - 45 69 56 T C 79220070 2154 110 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTGGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927727 78927728 78927728 exon -16 0.782608695652174 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTGGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 38 152 0.85 0.85 0.85 103 79 1 0.892531519482701 0.94626575974135 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 0.00374628871979787 0.00954032238250135 0.11747217623471 -0.00549397732544044 0.84335669444885 0.890276660286716 0.00664330555114961 0.0559890994546348 0.0493457939034852 FALSE FALSE 0 -5.597 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA CTA T,C 8.236e-06 15:78927728 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 stop_lost -0.252902 0.22791 0.05416 0.67177 0.312787305003681 0 3.17314560149624e-06 FALSE NA ENSE00000699780_017 ENSE00000699780 017 15 79220010 79220179 - 45 69 56 C T 79220072 2155 108 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATATAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927729 78927730 78927730 exon -18 0.753623188405797 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATATAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 127 135 0.865224739715677 0.8 0.832612369857838 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.0173030840496132 -0.0980254968081411 0.84335669444885 0.890276660286716 NA -0.0576642904288772 NA FALSE NA 0.998 4.33 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 rs199513135 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACA C,T 1.647e-05 15:78927730 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 missense_variant 2.324797 0.92759 0.94761 0.67177 0.763971876852233 0 3.17314560149624e-06 FALSE 1.21831e-05 ENSE00000699780_018 ENSE00000699780 018 15 79220010 79220179 - 45 69 56 T C 79220077 2156 103 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAGGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927734 78927735 78927735 exon -23 0.681159420289855 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAGGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 65 334 0 0 0 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.88252782376529 -0.898025496808141 0.84335669444885 0.890276660286716 NA -0.890276660286716 NA TRUE NA 1 1.967 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA CTT T,C 1.647e-05 15:78927735 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 missense_variant 0.971294 0.86876 0.86655 0.67177 0.980800382338376 0 3.17314560149624e-06 FALSE 8.12163e-06 ENSE00000699780_019 ENSE00000699780 019 15 79220010 79220179 - 45 69 56 C T 79220087 2157 93 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCAGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927744 78927745 78927745 exon -33 0.536231884057971 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCAGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 44 169 0.803655994675373 0.866041107805366 0.83484855124037 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.0788718290899165 -0.0319843890027754 0.84335669444885 0.890276660286716 NA -0.055428109046346 NA FALSE NA 1 5.938 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 rs377571418&COSM4057179 1 NA T:0 T:0.0001 CCG C,T 1.647e-05 15:78927745 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 missense_variant 3.251472 0.92676 0.95981 0.67177 0.980469353994941 0 3.17314560149624e-06 FALSE 2.43645e-05 ENSE00000699780_022 ENSE00000699780 022 15 79220010 79220179 - 45 69 56 C G 79220109 2160 71 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAACTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927766 78927767 78927767 exon 15 0.217391304347826 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAACTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 57 42 0.85 0.85 0.85 244 61 0.892316346819083 0.95 0.921158173409542 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 0.00374628871979787 0.00954032238250135 0.00978852305379319 0.0519745031918587 0.84335669444885 0.890276660286716 0.00664330555114961 0.0308815131228259 0.0242382075716763 FALSE FALSE 1 1.3 rs148490505 upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 rs148490505 1 NA G:0.0002 G:0 ACT C,G 8.236e-06 15:78927767 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 missense_variant 1.86156 0.85143 0.89146 0.67177 0.732702998242804 0 3.17314560149624e-06 FALSE NA ENSE00000699780_023 ENSE00000699780 023 15 79220010 79220179 - 45 69 56 G A 79220112 2161 68 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGTAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927769 78927770 78927770 exon 12 0.173913043478261 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGTAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 19 29 0.0674209505858544 0.0226038541856464 0.0450124023857504 217 157 0.00138552446956855 0.00647500447381213 0.00393026447169034 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 -0.778832760694348 -0.817855823431852 -0.881142299295721 -0.891550492334329 0.84335669444885 0.890276660286716 -0.7983442920631 -0.886346395815025 0.0880021037519253 TRUE TRUE 1 2.68 rs142506062 upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 rs142506062 1 NA A:0 A:0.0001 TGC G,A 8.236e-06 15:78927770 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 missense_variant 0.048921 0.87796 0.88441 0.67177 0.987688655223023 0 3.17314560149624e-06 FALSE 4.06105e-06 ENSE00000699780_025 ENSE00000699780 025 15 79220010 79220179 - 45 69 56 A G 79220115 2163 65 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTACTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927772 78927773 78927773 exon 9 0.130434782608696 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTACTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 21 27 0 0.024292918662263 0.0121464593311315 NA NA NA NA NA 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 -0.846253711280202 -0.816166758955236 NA NA 0.84335669444885 0.890276660286716 -0.831210235117719 NA NA NA TRUE 0 -1.233 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA AAT A,G 8.236e-06 15:78927773 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 missense_variant -1.020279 0.10331 0.03448 0.67177 0.389767101955936 0 3.17314560149624e-06 FALSE 4.06085e-06 ENSE00000699780_028 ENSE00000699780 028 15 79220010 79220179 - 45 69 56 C G 79220123 2166 57 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGCATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927780 78927781 78927781 exon 1 0.0144927536231884 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGCATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 20 143 0.8 0.8 0.8 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.0825278237652899 -0.0980254968081412 0.84335669444885 0.890276660286716 NA -0.0902766602867155 NA FALSE NA 1 2.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:78927781 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 missense_variant 4.484698 0.86394 0.89703 0.67177 0.943279242796049 0 3.17314560149624e-06 FALSE 4.06108e-06 ENSE00000699780_029 ENSE00000699780 029 15 79220010 79220179 - 45 69 56 C T 79220123 2167 57 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGAATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927780 78927781 78927781 exon 1 0.0144927536231884 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGAATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 18 21 0.85 0.85 0.85 NA NA NA NA NA 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 0.00374628871979787 0.00954032238250135 NA NA 0.84335669444885 0.890276660286716 0.00664330555114961 NA NA NA FALSE 1 2.2 NA NA NA CTSH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTSH NA NA NA ENSG00000103811 ENSE00003537664 missense_variant 1.848084 0.85338 0.76468 0.67177 0.981451567977986 0 3.17314560149624e-06 FALSE 4.06108e-06 ENSE00000699780_030 ENSE00000699780 030 15 79220010 79220179 - 45 69 56 T C 79220127 2168 53 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAGCAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927784 78927785 78927785 upstr_intron -4 -0.0535714285714286 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAGCAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 68 12 0 0.0552657751577849 0.0276328875788924 NA NA NA NA NA 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 -0.846253711280202 -0.785193902459714 NA NA 0.84335669444885 0.890276660286716 -0.815723806869958 NA NA NA TRUE 0.982 2.21 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA GTT T,C 8.236e-06 15:78927785 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 splice_region_variant 0.148134 0.66946 0.59192 0.283894 0.451988121578829 0.266168 3.17314560149624e-06 FALSE 8.12229e-06 ENSE00000699780_033 ENSE00000699780 033 15 79220010 79220179 - 45 69 56 G C 79220146 2171 34 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTGATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927803 78927804 78927804 upstr_intron -23 -0.392857142857143 GAGGCTGAGACTTCGGGTCCATAACCTGTATTTGATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 66 59 0.0716896651299557 0.00863796655560997 0.0401638158427828 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA -0.810838158635334 -0.889387530252531 0.84335669444885 0.890276660286716 NA -0.850112844443933 NA TRUE NA 0 -0.165 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA TGA G,C 0.0001894 15:78927804 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 intron_variant -0.126488 0.14358 0.20652 0.115753 0.541383367007921 0.0976507 3.17314560149624e-06 FALSE 0.000190947 ENSE00000699780_035 ENSE00000699780 035 15 79220010 79220179 - 45 69 56 G A 79220160 2173 20 GAGGCTGAGACTTCGGGTCTATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927817 78927818 78927818 upstr_intron -37 -0.642857142857143 GAGGCTGAGACTTCGGGTCTATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 12 41 0.85 0.85 0.85 NA NA NA NA NA 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 0.00374628871979787 0.00954032238250135 NA NA 0.84335669444885 0.890276660286716 0.00664330555114961 NA NA NA FALSE 0.219 1.354 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA TGG G,A 0.0001894 15:78927818 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 intron_variant 0.303679 0.15235 0.29169 0.115753 0.491199140912294 0.0846462 3.17314560149624e-06 FALSE 0.00010169 ENSE00000699780_038 ENSE00000699780 038 15 79220010 79220179 - 45 69 56 C T 79220165 2176 15 GAGGCTGAGACTTCAGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927822 78927823 78927823 upstr_intron -42 -0.732142857142857 GAGGCTGAGACTTCAGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant NA NA NA NA NA 31 133 1 0.833046575475504 0.916523287737752 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 NA NA 0.11747217623471 -0.0649789213326371 0.84335669444885 0.890276660286716 NA 0.0262466274510365 NA FALSE NA 0 -2.395 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA CCG C,T 8.237e-06 15:78927823 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 intron_variant -0.502375 0.06078 0.00646 0.115753 0.574547899590365 0.0489644 3.17314560149624e-06 FALSE 1.22283e-05 ENSE00000699780_039 ENSE00000699780 039 15 79220010 79220179 - 45 69 56 G A 79220166 2177 14 GAGGCTGAGACTTTGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG 78927667 78927837 78927823 78927824 78927824 upstr_intron -43 -0.75 GAGGCTGAGACTTTGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG GAGGCTGAGACTTCGGGTCCATAACCTGTATTTCATGCCCTTTGCATCCTCAACAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCGTGAGTGCCGATCCCCCTCTGGGATGGGGAATGTGTCCTGATGAG mutant 27 24 0.85 0.85 0.85 172 599 0.942667037320716 0.896996389856786 0.919831713588751 0.846253711280202 0.840459677617499 0.88252782376529 0.898025496808141 0.00374628871979787 0.00954032238250135 0.0601392135554265 -0.00102910695135505 0.84335669444885 0.890276660286716 0.00664330555114961 0.0295550533020357 0.0229117477508861 FALSE FALSE 0 0.401 . upstream_gene_variant MODIFIER CTSH HGNC 2535 ENST00000527715 1 NA CGA G,A 2.471e-05 15:78927824 CTSH HGNC Symbol protein_coding 28516 ENSG00000103811 ENSE00003537664 intron_variant -0.260426 0.11232 0.18046 0.115753 0.500505756065548 0.0826381 3.17314560149624e-06 FALSE 2.44626e-05 ENSE00000700481_000 ENSE00000700481 000 4 5757950 5758119 + 41 99 30 NA NA NA NA NA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 NA NA NA NA NA NA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA natural NA NA NA NA NA 839 543 0.997766476659994 0.99116015211027 0.994463314385132 NA NA 0.997766476659994 0.99116015211027 NA NA 0 0 NA 0.994463314385132 NA 0 NA FALSE NA NA NA NA NA NA EVC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EVC NA NA NA ENSG00000072840 ENSE00000700481 NA NA NA NA NA NA NA 8.01499590160707e-08 FALSE NA ENSE00000700481_BRK ENSE00000700481 BRK 4 5757950 5758119 + 41 99 30 A,G; T,T NA NA NA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACTTGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGCCACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 NA NA NA NA NA NA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACTTGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGCCACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA control NA NA NA NA NA 195 392 0 0 0 NA NA 0.997766476659994 0.99116015211027 NA NA -0.997766476659994 -0.99116015211027 NA 0.994463314385132 NA -0.994463314385132 NA TRUE NA NA NA NA NA NA EVC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EVC NA NA NA ENSG00000072840 ENSE00000700481 NA NA NA NA NA NA NA 8.01499590160707e-08 FALSE NA ENSE00000700625_000 ENSE00000700625 000 15 83215152 83215321 - 39 81 50 NA NA NA NA NA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 NA NA NA NA NA NA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA natural 42 51 0.997821537709981 0.996557177740532 0.997189357725257 1896 1534 0.603279468442166 0.734298385279684 0.668788926860925 0.997821537709981 0.996557177740532 0.603279468442166 0.734298385279684 0 0 0 0 0.997189357725257 0.668788926860925 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003651905 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000700625_015 ENSE00000700625 015 15 83215152 83215321 - 39 81 50 C G 83215225 2274 97 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCACTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546474 82546475 82546475 exon -35 0.580246913580247 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCACTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 25 1681 1 0.998629961711565 0.999314980855783 0.997821537709981 0.996557177740532 0.603279468442166 0.734298385279684 NA NA 0.396720531557834 0.264331576431881 0.997189357725257 0.668788926860925 NA 0.330526053994858 NA FALSE NA 0.698 0.937 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003651905 missense_variant 2.329358 0.98331 0.73423 0.638212 0.944091308467513 0 4.67636131494537e-13 FALSE 8.12348e-06 ENSE00000700625_023 ENSE00000700625 023 15 83215152 83215321 - 39 81 50 C T 83215277 2282 45 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTATGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546526 82546527 82546527 upstr_intron -6 -0.1 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTATGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 129 1249 0.99936021005871 0.995888687690108 0.997624448874409 0.997821537709981 0.996557177740532 0.603279468442166 0.734298385279684 NA NA 0.396080741616544 0.261590302410424 0.997189357725257 0.668788926860925 NA 0.328835522013484 NA FALSE NA 0 -2.055 NA NA NA CPEB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPEB1 NA NA NA ENSG00000214575 ENSE00003651905 splice_region_variant 1.367626 0.16259 0.04003 0.06567 0.830026762427211 0.375243 0.999591314438397 TRUE NA ENSE00000700625_BRK ENSE00000700625 BRK 15 83215152 83215321 - 39 81 50 A,G; T,T NA NA NA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCTTGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGCCGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 NA NA NA NA NA NA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCTTGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGCCGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA control NA NA NA NA NA 75 48 0.085222071537523 0 0.0426110357687615 0.997821537709981 0.996557177740532 0.603279468442166 0.734298385279684 NA NA -0.518057396904643 -0.734298385279684 0.997189357725257 0.668788926860925 NA -0.626177891092163 NA TRUE NA NA NA NA NA NA CPEB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPEB1 NA NA NA ENSG00000214575 ENSE00003651905 NA NA NA NA NA NA NA 0.999591314438397 TRUE NA ENSE00000702907_000 ENSE00000702907 000 8 121312924 121313093 + 47 87 36 NA NA NA NA NA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 NA NA NA NA NA NA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA natural 229 531 0.984641803234182 0.977977841301885 0.981309822268034 4957 3523 0.991866403579951 0.919211686977555 0.955539045278753 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 0 0 0 0 0.981309822268034 0.955539045278753 0 0 0 FALSE FALSE NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702907 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00000702907_001 ENSE00000702907 001 8 121312924 121313093 + 47 87 36 G A 121312934 1854 11 GTATAAACTGACATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300694 120300695 120300695 upstr_intron -37 -0.765957446808511 GTATAAACTGACATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 457 614 0.995502178268244 0.999484496927209 0.997493337597727 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00363577468829268 0.0802728099496541 0.981309822268034 0.955539045278753 NA 0.0419542923189734 NA FALSE NA 0 -2.532 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 35/47 rs371655505 1 NA A:0 A:0.0001 GGC G,A 8.237e-06 8:120300695 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 intron_variant -0.164449 0.14777 0.01445 0.053691 0.134278136765048 0.0431032 0.00136791753453828 FALSE 8.68387e-06 ENSE00000702907_003 ENSE00000702907 003 8 121312924 121313093 + 47 87 36 C T 121312939 1856 16 GTATAAACTGGCATGTTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300699 120300700 120300700 upstr_intron -32 -0.659574468085106 GTATAAACTGGCATGTTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 1214 346 1 0.873009988826105 0.936504994413053 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00813359642004874 -0.0462016981514498 0.981309822268034 0.955539045278753 NA -0.0190340508657005 NA FALSE NA 0 -0.797 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 35/47 1 NA GCT C,T 8.237e-06 8:120300700 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 intron_variant 0.108084 0.10861 0.00045 0.053691 0.226543727785871 0.0431032 0.00136791753453828 FALSE 4.20649e-06 ENSE00000702907_004 ENSE00000702907 004 8 121312924 121313093 + 47 87 36 A G 121312941 1857 18 GTATAAACTGGCATGCTGATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300701 120300702 120300702 upstr_intron -30 -0.617021276595745 GTATAAACTGGCATGCTGATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 649 225 1 0.994578205115562 0.997289102557781 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00813359642004874 0.0753665181380064 0.981309822268034 0.955539045278753 NA 0.0417500572790276 NA FALSE NA 0.002 0.906 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 35/47 rs369567984 1 NA G:0.0002 G:0.0002 TAA A,G 0.0002142 8:120300702 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 intron_variant 0.041413 0.32004 0.28363 0.053691 0.566279734186457 0.0431032 0.00136791753453828 FALSE 0.000285546 ENSE00000702907_005 ENSE00000702907 005 8 121312924 121313093 + 47 87 36 T C 121312943 1858 20 GTATAAACTGGCATGCTAACGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300703 120300704 120300704 upstr_intron -28 -0.574468085106383 GTATAAACTGGCATGCTAACGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 357 855 0.994289591427118 0.999770396356758 0.997029993891938 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00242318784716677 0.0805587093792028 0.981309822268034 0.955539045278753 NA 0.0414909486131848 NA FALSE NA 0 -0.707 rs149465730 intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 35/47 rs149465730 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0011 C:0 ATG T,C 0.0001236 8:120300704 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 intron_variant 0.003523 0.1192 0.00067 0.053691 0.521477702942773 0.0431032 0.00136791753453828 FALSE 0.000104315 ENSE00000702907_006 ENSE00000702907 006 8 121312924 121313093 + 47 87 36 G T 121312948 1859 25 GTATAAACTGGCATGCTAATGGTTTTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300708 120300709 120300709 upstr_intron -23 -0.468085106382979 GTATAAACTGGCATGCTAATGGTTTTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 657 3150 0.999766678762672 0.990767794095984 0.995267236429328 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00790027518272085 0.0715561071184291 0.981309822268034 0.955539045278753 NA 0.039728191150575 NA FALSE NA 0 -0.091 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 35/47 1 NA TGT G,T 2.471e-05 8:120300709 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 intron_variant -0.432475 0.18149 0.01602 0.053691 0.358841951420549 0.0491283 0.00136791753453828 FALSE 1.24438e-05 ENSE00000702907_007 ENSE00000702907 007 8 121312924 121313093 + 47 87 36 G A 121312950 1860 27 GTATAAACTGGCATGCTAATGGTTGTACTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300710 120300711 120300711 upstr_intron -21 -0.425531914893617 GTATAAACTGGCATGCTAATGGTTGTACTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 864 547 0.986600206123977 0.854671637671902 0.92063592189794 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA -0.00526619745597412 -0.0645400493056532 0.981309822268034 0.955539045278753 NA -0.0349031233808136 NA FALSE NA 0 0.161 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 35/47 1 NA TGC G,A 8.237e-06 8:120300711 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 intron_variant 0.16231 0.19431 0.07946 0.053691 0.492735535780045 0.0491283 0.00136791753453828 FALSE 1.24321e-05 ENSE00000702907_008 ENSE00000702907 008 8 121312924 121313093 + 47 87 36 C T 121312963 1861 40 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTTTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300723 120300724 120300724 upstr_intron -8 -0.148936170212766 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTTTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 1230 565 0.870386969092465 0.973227573404876 0.921807271248671 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA -0.121479434487486 0.0540158864273211 0.981309822268034 0.955539045278753 NA -0.0337317740300825 NA FALSE NA 0 0.29 . splice_region_variant&intron_variant LOW COL14A1 HGNC 2191 ENST00000309791 35/47 1 NA TCT C,T 0.0001153 8:120300724 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 splice_region_variant 1.429645 0.29555 0.07518 0.053691 0.54338365108928 0.246103 0.00136791753453828 FALSE NA ENSE00000702907_009 ENSE00000702907 009 8 121312924 121313093 + 47 87 36 G A 121312972 1862 49 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAAAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300732 120300733 120300733 exon 2 0.0229885057471264 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAAAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 1391 2418 1 0.997993958988013 0.998996979494007 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00813359642004874 0.0787822720104583 0.981309822268034 0.955539045278753 NA 0.0434579342152535 NA FALSE NA 1 7.482 . missense_variant&splice_region_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 36/48 rs200065784&COSM1454568 1 deleterious(0.03) possibly_damaging(0.907) NA A:0 A:0.0002 AGA G,A 0.0002224 8:120300733 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 5.017573 0.98958 0.99115 0.706298 0.99689407746018 0 0.00136791753453828 FALSE 0.000114411 ENSE00000702907_010 ENSE00000702907 010 8 121312924 121313093 + 47 87 36 A T 121312975 1863 52 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGTTGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300735 120300736 120300736 exon 5 0.0574712643678161 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGTTGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 1644 1988 0.977137474351444 0.999840860284581 0.988489167318012 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA -0.0147289292285073 0.0806291733070257 0.981309822268034 0.955539045278753 NA 0.0329501220392592 NA FALSE NA 1 4.817 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 36/48 1 tolerated(0.24) benign(0.16) NA GAT A,T 1.647e-05 8:120300736 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 4.790626 0.98801 0.94833 0.706298 0.969406395968015 0 0.00136791753453828 FALSE 8.15415e-06 ENSE00000702907_011 ENSE00000702907 011 8 121312924 121313093 + 47 87 36 G T 121312977 1864 54 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATTATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300737 120300738 120300738 exon 7 0.0804597701149425 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATTATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 427 242 1 0.998690698020634 0.999345349010317 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00813359642004874 0.0794790110430785 0.981309822268034 0.955539045278753 NA 0.0438063037315636 NA FALSE NA 1 7.482 NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:120300738 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 3.679163 0.99004 0.9922 0.706298 0.99376908157605 0 0.00136791753453828 FALSE 8.15109e-06 ENSE00000702907_013 ENSE00000702907 013 8 121312924 121313093 + 47 87 36 A C 121312981 1866 58 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGCGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300741 120300742 120300742 exon 11 0.126436781609195 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGCGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 879 991 1 0.966223924183064 0.983111962091532 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00813359642004874 0.0470122372055086 0.981309822268034 0.955539045278753 NA 0.0275729168127787 NA FALSE NA 1 5.175 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 36/48 1 tolerated(1) benign(0.06) NA GAG A,C 8.236e-06 8:120300742 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 2.866709 0.94586 0.95471 0.706298 0.615307267381979 0 0.00136791753453828 FALSE 4.07498e-06 ENSE00000702907_014 ENSE00000702907 014 8 121312924 121313093 + 47 87 36 C A 121312984 1867 61 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTATTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300744 120300745 120300745 exon 14 0.160919540229885 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTATTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 73 3809 0.898132514669606 0.98225309682112 0.940192805745363 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA -0.093733888910345 0.0630414098435653 0.981309822268034 0.955539045278753 NA -0.0153462395333898 NA FALSE NA 0.96 1.149 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 36/48 1 deleterious(0) benign(0.373) NA TCT C,A 8.236e-06 8:120300745 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 2.727757 0.7944 0.47213 0.706298 0.976614910833513 0 0.00136791753453828 FALSE 4.06888e-06 ENSE00000702907_015 ENSE00000702907 015 8 121312924 121313093 + 47 87 36 G T 121312992 1868 69 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCATACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300752 120300753 120300753 exon 22 0.252873563218391 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCATACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 924 841 0.863100661026358 0.951788387039183 0.907444524032771 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA -0.128765742553593 0.032576700061628 0.981309822268034 0.955539045278753 NA -0.0480945212459826 NA FALSE NA 1 2.735 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 36/48 1 deleterious(0) possibly_damaging(0.667) NA AGA G,T 8.236e-06 8:120300753 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 3.416767 0.98143 0.91864 0.706298 0.990202072822616 0 0.00136791753453828 FALSE 4.06742e-06 ENSE00000702907_016 ENSE00000702907 016 8 121312924 121313093 + 47 87 36 C T 121313011 1869 88 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTTCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300771 120300772 120300772 exon 41 0.471264367816092 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTTCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 261 268 1 1 1 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00813359642004874 0.0807883130224448 0.981309822268034 0.955539045278753 NA 0.0444609547212468 NA FALSE NA 1 5.946 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 36/48 rs199841665 1 deleterious(0.01) probably_damaging(0.998) NA TCC C,T 6.589e-05 8:120300772 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 4.751234 0.98938 0.98591 0.706298 0.998434553931673 0 0.00136791753453828 FALSE 7.32172e-05 ENSE00000702907_017 ENSE00000702907 017 8 121312924 121313093 + 47 87 36 C A 121313012 1870 89 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCATGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300772 120300773 120300773 exon 42 0.482758620689655 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCATGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 722 552 0.999313995098217 0.996421637600591 0.997867816349404 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00744759151826568 0.0772099506230356 0.981309822268034 0.955539045278753 NA 0.0423287710706506 NA FALSE NA 1 0.693 . synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 36/48 rs570267241 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CCT C,A 8.236e-06 8:120300773 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 synonymous_variant 1.97529 0.95995 0.86476 0.706298 0.518722027228246 0 0.00136791753453828 FALSE 4.06752e-06 ENSE00000702907_018 ENSE00000702907 018 8 121312924 121313093 + 47 87 36 C T 121313047 1871 124 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGTGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300807 120300808 120300808 exon -11 0.885057471264368 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGTGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 137 115 1 0.999668383815165 0.999834191907582 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00813359642004874 0.0804566968376095 0.981309822268034 0.955539045278753 NA 0.0442951466288291 NA FALSE NA 0.89 1.398 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 36/48 rs373077394 1 tolerated(0.09) benign(0.003) NA T:0.0002 T:0 GCG C,T 9.884e-05 8:120300808 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 4.257529 0.98292 0.8898 0.706298 0.996157777383975 0 0.00136791753453828 FALSE 8.55251e-05 ENSE00000702907_019 ENSE00000702907 019 8 121312924 121313093 + 47 87 36 C T 121313055 1872 132 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCATCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA 120300684 120300854 120300815 120300816 120300816 exon -3 0.977011494252874 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCATCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 298 406 0.990994703152439 0.999610263232167 0.995302483192303 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA -0.000871700427512279 0.0803985762546122 0.981309822268034 0.955539045278753 NA 0.03976343791355 NA FALSE NA 1 4.282 . missense_variant&splice_region_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 36/48 1 tolerated(0.28) probably_damaging(0.999) NA ACC C,T 8.237e-06 8:120300816 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 missense_variant 5.470902 0.99029 0.96591 0.706298 0.998764666829111 0 0.00136791753453828 FALSE 4.0809e-06 ENSE00000702907_021 ENSE00000702907 021 8 121312924 121313093 + 47 87 36 C A 121313078 1874 155 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGACTTAAATTTTCTTTA 120300684 120300854 120300838 120300839 120300839 downstr_intron 21 1.6 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGACTTAAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 445 113 0.994698319589214 0.970928666096144 0.982813492842679 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00283191600926236 0.0517169791185893 0.981309822268034 0.955539045278753 NA 0.0272744475639258 NA FALSE NA 0 -1.829 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 36/47 1 NA GCC C,A 8.237e-06 8:120300839 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 intron_variant 0.482409 0.19457 0.02238 0.053691 0.74621339169918 0.0640786 0.00136791753453828 FALSE NA ENSE00000702907_022 ENSE00000702907 022 8 121312924 121313093 + 47 87 36 A G 121313082 1875 159 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTGAATTTTCTTTA 120300684 120300854 120300842 120300843 120300843 downstr_intron 25 1.71428571428571 GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTGAATTTTCTTTA GTATAAACTGGCATGCTAATGGTTGTGCTTTTTTTGTTTCTTTTCAGAGAGATGATGAGTCTTGCCCAGACCTTCCCCATTCCTGCTCCTGTTCTGAAACCAATGAAGTGGCTCTGGGACCAGCGGGCCCACCAGTAAGTCTTGCTGAGTTCAGCCTTAAATTTTCTTTA mutant NA NA NA NA NA 900 260 0.999679478077018 0.995947437853372 0.997813457965195 0.984641803234182 0.977977841301885 0.991866403579951 0.919211686977555 NA NA 0.00781307449706659 0.076735750875817 0.981309822268034 0.955539045278753 NA 0.0422744126864418 NA FALSE NA 0.005 -0.301 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 36/47 1 NA TAA A,G 8.237e-06 8:120300843 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702907 intron_variant 0.314039 0.18726 0.01457 0.053691 0.696908401620564 0.0640786 0.00136791753453828 FALSE 4.19794e-06 ENSE00000702914_000 ENSE00000702914 000 8 121327709 121327878 + 63 54 53 NA NA NA NA NA CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 NA NA NA NA NA NA GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG natural 89 181 0.894768514426268 0.850047947427966 0.872408230927117 1790 2422 0.971300791966196 0.961922660155653 0.966611726060925 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 0 0 0 0 0.872408230927117 0.966611726060925 0 0 0 FALSE FALSE NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702914 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00000702914_002 ENSE00000702914 002 8 121327709 121327878 + 63 54 53 A G 121327727 1877 19 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATCCTTAGCGTTTTCTTTTCC 120315469 120315639 120315487 120315488 120315488 upstr_intron -45 -0.698412698412698 GGAAAAGAAAACGCTAAGGATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 3197 208 0.954483772397791 0.959786030075034 0.957134901236412 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0168170195684052 -0.00213663008061959 0.872408230927117 0.966611726060925 NA -0.0094768248245124 NA FALSE NA 0 -1.265 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 38/47 1 NA GAA A,G 1.648e-05 8:120315488 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 0.035472 0.14428 0.02709 0.053691 0.517962872587023 0.0455939 0.00136791753453828 FALSE 8.57596e-06 ENSE00000702914_003 ENSE00000702914 003 8 121327709 121327878 + 63 54 53 C T 121327734 1878 26 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAAGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315494 120315495 120315495 upstr_intron -38 -0.587301587301587 GGAAAAGAAAACGCTAAGAATTTACTTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 394 246 0.994657548653442 1 0.997328774326721 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0233567566872458 0.0380773398443467 0.872408230927117 0.966611726060925 NA 0.0307170482657962 NA FALSE NA 0 -2.405 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 38/47 1 NA CCT C,T 8.238e-06 8:120315495 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant -0.171032 0.12419 0.02798 0.053691 0.784442816188847 0.0455939 0.00136791753453828 FALSE 4.21834e-06 ENSE00000702914_004 ENSE00000702914 004 8 121327709 121327878 + 63 54 53 T C 121327737 1879 29 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACGTAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315497 120315498 120315498 upstr_intron -35 -0.53968253968254 GGAAAAGAAAACGCTAAGAATTTACCTACGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 1134 670 0.829656695222659 0.965942037852473 0.897799366537566 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.141644096743537 0.0040193776968197 0.872408230927117 0.966611726060925 NA -0.0688123595233587 NA FALSE NA 0.006 0.181 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 38/47 rs371917752 1 NA C:0.0002 C:0 ATG T,C 1.648e-05 8:120315498 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant -0.064135 0.19783 0.07621 0.053691 0.52811013778319 0.0455939 0.00136791753453828 FALSE 4.16726e-06 ENSE00000702914_006 ENSE00000702914 006 8 121327709 121327878 + 63 54 53 A G 121327754 1881 46 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTACACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315514 120315515 120315515 upstr_intron -18 -0.26984126984127 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTGTACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 178 930 0.991899854611901 0.990838611540649 0.991369233076275 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0205990626457053 0.0289159513849957 0.872408230927117 0.966611726060925 NA 0.0247575070153505 NA FALSE NA 0.862 0.542 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 38/47 1 NA TAT A,G 9.885e-05 8:120315515 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 1.783502 0.22196 0.01235 0.053691 0.87759214247162 0.347033 0.00136791753453828 FALSE 5.70172e-05 ENSE00000702914_007 ENSE00000702914 007 8 121327709 121327878 + 63 54 53 C T 121327757 1882 49 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAATATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315517 120315518 120315518 upstr_intron -15 -0.222222222222222 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATATTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 66 311 1 1 1 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0286992080338041 0.0380773398443467 0.872408230927117 0.966611726060925 NA 0.0333882739390754 NA FALSE NA 0.97 0.262 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 38/47 1 NA ACT C,T 8.237e-06 8:120315518 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 2.113236 0.52118 0.2031 0.053691 0.817709802422195 0.422086 0.00136791753453828 FALSE NA ENSE00000702914_008 ENSE00000702914 008 8 121327709 121327878 + 63 54 53 T C 121327761 1883 53 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCGAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315521 120315522 120315522 upstr_intron -11 -0.158730158730159 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTCGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 2419 377 0.875865858275929 0.803492377779722 0.839679118027826 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0954349336902666 -0.158430282375931 0.872408230927117 0.966611726060925 NA -0.126932608033099 NA FALSE NA 0.906 1.329 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 38/47 1 NA TTG T,C 1.647e-05 8:120315522 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 2.493738 0.92056 0.71468 0.053691 0.93616291071704 0.517317 0.00136791753453828 FALSE 1.22057e-05 ENSE00000702914_009 ENSE00000702914 009 8 121327709 121327878 + 63 54 53 G A 121327763 1884 55 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATTCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315523 120315524 120315524 upstr_intron -9 -0.126984126984127 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGAATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 107 267 0.949664455826793 0.996342878987433 0.973003667407113 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0216363361394026 0.0344202188317798 0.872408230927117 0.966611726060925 NA 0.00639194134618859 NA FALSE NA 0.001 -0.846 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:120315524 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 2.100066 0.18572 0.06068 0.053691 0.757113809780372 0.459274 0.00136791753453828 FALSE 0.000101715 ENSE00000702914_010 ENSE00000702914 010 8 121327709 121327878 + 63 54 53 G T 121327763 1885 55 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATACAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315523 120315524 120315524 upstr_intron -9 -0.126984126984127 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGTATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 1160 591 0.998239016074267 0.999935580309939 0.999087298192103 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0269382241080715 0.0380129201542857 0.872408230927117 0.966611726060925 NA 0.0324755721311786 NA FALSE NA 0.001 -0.846 NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702914 intron_variant 1.865599 0.18826 0.06407 0.053691 0.758087584646431 0.459274 0.00136791753453828 FALSE 8.13723e-06 ENSE00000702914_011 ENSE00000702914 011 8 121327709 121327878 + 63 54 53 T C 121327765 1886 57 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATGTCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315525 120315526 120315526 upstr_intron -7 -0.0952380952380952 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGACATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 58 192 0.910731600778891 0.876703991735917 0.893717796257404 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0605691911873053 -0.0852186684197365 0.872408230927117 0.966611726060925 NA -0.0728939298035209 NA FALSE NA 0.005 1.229 . splice_region_variant&intron_variant LOW COL14A1 HGNC 2191 ENST00000309791 38/47 1 NA ATA T,C 8.237e-06 8:120315526 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 splice_region_variant 1.392718 0.40471 0.10613 0.053691 0.767937114401705 0.831263 0.00136791753453828 FALSE NA ENSE00000702914_012 ENSE00000702914 012 8 121327709 121327878 + 63 54 53 A C 121327789 1887 81 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCGTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315549 120315550 120315550 exon 18 0.333333333333333 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAACGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 214 372 0.984645948430432 1 0.992322974215216 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0133451564642357 0.0380773398443467 0.872408230927117 0.966611726060925 NA 0.0257112481542912 NA FALSE NA 1 0.717 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 39/48 rs201722446 1 deleterious(0) probably_damaging(0.998) NA AAG A,C 1.648e-05 8:120315550 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 missense_variant 4.157526 0.90285 0.80171 0.706298 0.998456599512343 0 0.00136791753453828 FALSE 2.43962e-05 ENSE00000702914_013 ENSE00000702914 013 8 121327709 121327878 + 63 54 53 G C 121327793 1888 85 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTGTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315553 120315554 120315554 exon 22 0.407407407407407 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGACAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 370 366 0.969703159535817 0.967048284781035 0.968375722158426 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.00159763243037914 0.00512562462538146 0.872408230927117 0.966611726060925 NA 0.00176399609750116 NA FALSE NA 1 3.728 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 39/48 1 tolerated(0.24) possibly_damaging(0.665) NA AGA G,C 1.648e-05 8:120315554 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 missense_variant 4.678725 0.95887 0.85226 0.706298 0.994399991377401 0 0.00136791753453828 FALSE NA ENSE00000702914_014 ENSE00000702914 014 8 121327709 121327878 + 63 54 53 A C 121327798 1889 90 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCGTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315558 120315559 120315559 exon 27 0.5 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAACGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 829 863 0.997536781889659 0.998845138828955 0.998190960359307 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0262359899234632 0.0369224786733018 0.872408230927117 0.966611726060925 NA 0.0315792342983825 NA FALSE NA 1 0.601 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 39/48 1 tolerated(0.07) probably_damaging(0.998) NA AAG A,C 1.647e-05 8:120315559 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 missense_variant 3.992085 0.90777 0.81505 0.706298 0.997614313248916 0 0.00136791753453828 FALSE 8.13127e-06 ENSE00000702914_015 ENSE00000702914 015 8 121327709 121327878 + 63 54 53 G A 121327800 1890 92 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTTCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315560 120315561 120315561 exon -26 0.537037037037037 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGAAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 1910 110 0.997337010238018 0.999653277548683 0.99849514389335 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0260362182718223 0.0377306173930294 0.872408230927117 0.966611726060925 NA 0.0318834178324259 NA FALSE NA 1 6.823 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 39/48 1 deleterious(0) probably_damaging(1) NA GGA G,A 8.237e-06 8:120315561 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 missense_variant 5.123592 0.95663 0.94841 0.706298 0.997558215307095 0 0.00136791753453828 FALSE 8.13193e-06 ENSE00000702914_016 ENSE00000702914 016 8 121327709 121327878 + 63 54 53 G A 121327802 1891 94 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATTTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315562 120315563 120315563 exon -24 0.574074074074074 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAAATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 30 49 0.95 0.814789231755309 0.882394615877654 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0213007919661961 -0.147133428400344 0.872408230927117 0.966611726060925 NA -0.0842171101832703 NA FALSE NA 1 6.823 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 39/48 COSM174149 1 deleterious(0) benign(0.316) NA AGA G,A 8.237e-06 8:120315563 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 missense_variant 4.026709 0.95663 0.94841 0 0.998960902125068 0 0.00136791753453828 FALSE 4.06653e-06 ENSE00000702914_017 ENSE00000702914 017 8 121327709 121327878 + 63 54 53 C T 121327820 1892 112 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGAACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315580 120315581 120315581 exon -6 0.907407407407407 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTTCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 1854 746 0.955732086509229 0.968769635403571 0.9622508609564 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0155687054569666 0.00684697524791766 0.872408230927117 0.966611726060925 NA -0.00436086510452449 NA FALSE NA 0.955 1.94 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 39/48 1 tolerated(0.09) benign(0.046) NA TCC C,T 8.238e-06 8:120315581 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 missense_variant 3.005003 0.92521 0.72558 0 0.992400198552878 0 0.00136791753453828 FALSE 2.44341e-05 ENSE00000702914_018 ENSE00000702914 018 8 121327709 121327878 + 63 54 53 A G 121327831 1893 123 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAACAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315591 120315592 120315592 downstr_intron 6 1.11538461538462 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTGTTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 182 428 1 0.982864387741947 0.991432193870974 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0286992080338041 0.0209417275862939 0.872408230927117 0.966611726060925 NA 0.024820467810049 NA FALSE NA 0.008 0.013 . splice_region_variant&intron_variant LOW COL14A1 HGNC 2191 ENST00000309791 39/47 1 NA TAT A,G 8.238e-06 8:120315592 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 splice_region_variant 1.175533 0.19699 0.03701 0.070013 0.742248553027212 0.168841 0.00136791753453828 FALSE 4.08747e-06 ENSE00000702914_019 ENSE00000702914 019 8 121327709 121327878 + 63 54 53 T G 121327838 1894 130 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAACCAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315598 120315599 120315599 downstr_intron 13 1.25 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGGTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 64 674 0.872992171825812 0.908885955504165 0.890939063664988 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0983086201403841 -0.0530367046514885 0.872408230927117 0.966611726060925 NA -0.0756726623959363 NA FALSE NA 0 0.101 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:120315599 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 0.284976 0.20847 0.13025 0.070013 0.636261646575546 0.0577018 0.00136791753453828 FALSE 4.10438e-06 ENSE00000702914_020 ENSE00000702914 020 8 121327709 121327878 + 63 54 53 T C 121327838 1895 130 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAGCAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315598 120315599 120315599 downstr_intron 13 1.25 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGCTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 1401 571 0.965758067690822 0.969034442157907 0.967396254924364 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.00554272427537406 0.00711178200225338 0.872408230927117 0.966611726060925 NA 0.00078452886343966 NA FALSE NA 0 0.101 NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702914 intron_variant 0.210691 0.18365 0.06577 0.070013 0.663576968640898 0.0577018 0.00136791753453828 FALSE 4.10438e-06 ENSE00000702914_021 ENSE00000702914 021 8 121327709 121327878 + 63 54 53 T A 121327847 1896 139 CCTTGGCAAAGTTGTAGACTGAGAGCAATAGTCTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315607 120315608 120315608 downstr_intron 22 1.42307692307692 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGACTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 1082 116 0.94081633491058 0.972705396018164 0.956760865464372 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0304844570556158 0.0107827358625102 0.872408230927117 0.966611726060925 NA -0.00985086059655277 NA FALSE NA 0 -0.224 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 39/47 rs368372135 1 NA A:0 A:0.0001 GTC T,A 8.24e-06 8:120315608 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 0.204634 0.17261 0.05337 0.070013 0.488190761893917 0.0577018 0.00136791753453828 FALSE 4.16157e-06 ENSE00000702914_022 ENSE00000702914 022 8 121327709 121327878 + 63 54 53 C G 121327856 1897 148 CCTTGGCAAAGTTGTAGACTGACAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315616 120315617 120315617 downstr_intron 31 1.59615384615385 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTGTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 282 1592 0.992777679794344 0.96263291347212 0.977705296633232 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0214768878281484 0.000710253316466458 0.872408230927117 0.966611726060925 NA 0.0110935705723074 NA FALSE NA 0 -1.974 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 39/47 rs202065076 1 NA G:0.0002 G:0.001 TCT C,G 0.0007252 8:120315617 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant -0.118731 0.14362 0.0049 0.070013 0.605475568986409 0.0436289 0.00136791753453828 FALSE 0.000925855 ENSE00000702914_023 ENSE00000702914 023 8 121327709 121327878 + 63 54 53 C A 121327865 1898 157 CCTTGGCAAAGTTTTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315625 120315626 120315626 downstr_intron 40 1.76923076923077 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTAAAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 500 744 0.984738997498713 0.959965578053762 0.972352287776238 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA 0.0134382055325174 -0.00195708210189127 0.872408230927117 0.966611726060925 NA 0.00574056171531306 NA FALSE NA 0.001 0.079 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 39/47 1 NA ACA C,A 8.246e-06 8:120315626 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 0.078305 0.24499 0.05255 0.070013 0.368474322817003 0.0436289 0.00136791753453828 FALSE NA ENSE00000702914_024 ENSE00000702914 024 8 121327709 121327878 + 63 54 53 C T 121327868 1899 160 CCTTGGCAAAATTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATACCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCCTGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 120315628 120315629 120315629 downstr_intron 43 1.82692307692308 GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAATTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG mutant NA NA NA NA NA 214 556 0.94309169434768 0.963880727460458 0.953486210904069 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 NA NA -0.0282090976185156 0.00195806730480497 0.872408230927117 0.966611726060925 NA -0.0131255151568553 NA FALSE NA 0 -1.122 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 39/47 1 NA ACT C,T 8.246e-06 8:120315629 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702914 intron_variant 0.345747 0.18037 0.01479 0.070013 0.538523428441149 0.0443366 0.00136791753453828 FALSE NA ENSE00000702914_BRK ENSE00000702914 BRK 8 121327709 121327878 + 63 54 53 A,G; T,T NA NA NA CCTTGGCAAAGTTGTAGACTGAGAGCAATAGACTTAAAAAACAAAAATAATGGCTGTGGACCTGGAAGGCCAGTATCTCCTTTCTCTCCTTTTTCTCCTGGCATTCCAAGAATATCCAAAAGTATACAGAGTTAAGTTCACATAGGTAAATTCTTAGCGTTTTCTTTTCC 120315469 120315639 NA NA NA NA NA NA GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCTTGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGCCATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG GGAAAAGAAAACGCTAAGAATTTACCTATGTGAACTTAACTCTGTATACTTTTGGATATTCAGGGAATGCCAGGAGAAAAAGGAGAGAAAGGAGATACTGGCCTTCCAGGTCCACAGGTATTATTTTTGTTTTTTAAGTCTATTGCTCTCAGTCTACAACTTTGCCAAGG control 121 53 0 0 0 70 38 0 0 0 0.894768514426268 0.850047947427966 0.971300791966196 0.961922660155653 -0.894768514426268 -0.850047947427966 -0.971300791966196 -0.961922660155653 0.872408230927117 0.966611726060925 -0.872408230927117 -0.966611726060925 0.0942034951338073 TRUE TRUE NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702914 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00000702916_000 ENSE00000702916 000 8 121328120 121328289 + 63 54 53 NA NA NA NA NA AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 NA NA NA NA NA NA AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG natural 631 823 0.85 0.84460732930839 0.847303664654195 833 3232 0.913879163852756 0.952197278617056 0.933038221234906 0.85 0.84460732930839 0.913879163852756 0.952197278617056 0 0 0 0 0.847303664654195 0.933038221234906 0 0 0 FALSE FALSE NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702916 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00000702916_001 ENSE00000702916 001 8 121328120 121328289 + 63 54 53 A C 121328134 1900 15 AGCTGCGTGAGCAGCTGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315894 120315895 120315895 upstr_intron -49 -0.761904761904762 AGCTGCGTGAGCAGCTGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 559 711 0.948264712446621 0.947310871526128 0.947787791986374 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA 0.0343855485938644 -0.00488640709092847 0.847303664654195 0.933038221234906 NA 0.014749570751468 NA FALSE NA 0 -0.141 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 39/47 1 NA GAT A,C 1.648e-05 8:120315895 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 intron_variant -0.313369 0.10801 0.02133 0.126639 0.384982634362393 0.102791 0.00136791753453828 FALSE 8.29064e-06 ENSE00000702916_002 ENSE00000702916 002 8 121328120 121328289 + 63 54 53 G A 121328136 1901 17 AGCTGCGTGAGCAGATAACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315896 120315897 120315897 upstr_intron -47 -0.73015873015873 AGCTGCGTGAGCAGATAACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 2849 585 0.80908016085118 0.859648527209208 0.834364344030194 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.104799003001577 -0.0925487514078479 0.847303664654195 0.933038221234906 NA -0.0986738772047123 NA FALSE NA 0 -0.019 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 39/47 1 NA TGA G,A 8.238e-06 8:120315897 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 intron_variant 0.175861 0.08327 0.01054 0.126639 0.520109219889326 0.152505 0.00136791753453828 FALSE 4.1389e-06 ENSE00000702916_003 ENSE00000702916 003 8 121328120 121328289 + 63 54 53 T A 121328148 1902 29 AGCTGCGTGAGCAGATGACTCATTCCTGAGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315908 120315909 120315909 upstr_intron -35 -0.53968253968254 AGCTGCGTGAGCAGATGACTCATTCCTGAGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 312 50 0.839157075581262 0.989490944859506 0.914324010220384 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.0747220882714946 0.0372936662424492 0.847303664654195 0.933038221234906 NA -0.0187142110145227 NA FALSE NA 0 -0.15 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 39/47 1 NA GTG T,A 2.471e-05 8:120315909 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 intron_variant 0.382318 0.09287 0.05053 0.126639 0.754325252812026 0.0822467 0.00136791753453828 FALSE 2.04952e-05 ENSE00000702916_004 ENSE00000702916 004 8 121328120 121328289 + 63 54 53 A C 121328194 1903 75 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGCGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315954 120315955 120315955 exon 12 0.222222222222222 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGCGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 69 501 0.865674434494289 0.944769670256935 0.905222052375612 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.0482047293584674 -0.00742760836012135 0.847303664654195 0.933038221234906 NA -0.0278161688592944 NA FALSE NA 1 0.944 . synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 40/48 1 NA GAG A,C 2.471e-05 8:120315955 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 synonymous_variant 0.507615 0.20114 0.25002 0.675385 0.677141098350013 0 0.00136791753453828 FALSE 1.62674e-05 ENSE00000702916_005 ENSE00000702916 005 8 121328120 121328289 + 63 54 53 C T 121328197 1904 78 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGTGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315957 120315958 120315958 exon 15 0.277777777777778 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGTGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 14 431 0.8 0.803851515413034 0.801925757706517 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.113879163852756 -0.148345763204022 0.847303664654195 0.933038221234906 NA -0.131112463528389 NA FALSE NA 0 -1.437 rs115792605 synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 40/48 rs115792605 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCG C,T 4.942e-05 8:120315958 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 synonymous_variant 2.31224 0.06296 0.00869 0.675385 0.812322414903127 0 0.00136791753453828 FALSE 3.66041e-05 ENSE00000702916_006 ENSE00000702916 006 8 121328120 121328289 + 63 54 53 G A 121328198 1905 79 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCATTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315958 120315959 120315959 exon 16 0.296296296296296 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCATTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 165 27 0.8 0.991096999042848 0.895548499521424 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.113879163852756 0.0388997204257912 0.847303664654195 0.933038221234906 NA -0.0374897217134825 NA FALSE NA 0.004 -0.195 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 40/48 rs200079461 1 tolerated(0.23) benign(0.002) NA CGT G,A 1.647e-05 8:120315959 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 missense_variant 1.019753 0.08158 0.0154 0.675385 0.925575484479639 0 0.00136791753453828 FALSE 2.84706e-05 ENSE00000702916_007 ENSE00000702916 007 8 121328120 121328289 + 63 54 53 A G 121328212 1906 93 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGGCGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315972 120315973 120315973 exon -25 0.555555555555556 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGGCGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 2128 143 0.780369316509898 0.801765417958567 0.791067367234233 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.133509847342859 -0.150431860658489 0.847303664654195 0.933038221234906 NA -0.141970854000674 NA FALSE NA 1 0.335 . synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 40/48 1 NA GAC A,G 8.237e-06 8:120315973 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 synonymous_variant 0.779805 0.77347 0.38006 0.675385 0.653194303857568 0 0.00136791753453828 FALSE 4.06643e-06 ENSE00000702916_009 ENSE00000702916 009 8 121328120 121328289 + 63 54 53 C T 121328225 1908 106 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCATCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315985 120315986 120315986 exon -12 0.796296296296296 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCATCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 978 67 0.94105603638803 0.946349918695197 0.943702977541613 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA 0.0271768725352737 -0.00584735992185981 0.847303664654195 0.933038221234906 NA 0.0106647563067069 NA FALSE NA 0.999 5.696 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:120315986 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 missense_variant 4.889434 0.89435 0.79588 0.675385 0.994805956812401 0 0.00136791753453828 FALSE 8.13359e-06 ENSE00000702916_010 ENSE00000702916 010 8 121328120 121328289 + 63 54 53 C A 121328225 1909 106 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCAACAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315985 120315986 120315986 exon -12 0.796296296296296 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCAACAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 200 18 0.938287409332188 0.953586990810613 0.9459372000714 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA 0.0244082454794314 0.00138971219355644 0.847303664654195 0.933038221234906 NA 0.0128989788364939 NA FALSE NA 0.999 5.696 NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702916 missense_variant 4.772706 0.89725 0.81514 0.675385 0.993451588469531 0 0.00136791753453828 FALSE 2.0334e-05 ENSE00000702916_011 ENSE00000702916 011 8 121328120 121328289 + 63 54 53 A C 121328227 1910 108 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCCGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120315987 120315988 120315988 exon -10 0.833333333333333 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCCGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 457 1792 0.941794886339492 0.928801308667237 0.935298097503365 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA 0.0279157224867362 -0.0233959699498193 0.847303664654195 0.933038221234906 NA 0.00225987626845847 NA FALSE NA 0.999 0.498 . synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 40/48 1 NA CAG A,C 2.471e-05 8:120315988 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 synonymous_variant 0.264977 0.78403 0.39845 0.675385 0.772333798870149 0 0.00136791753453828 FALSE 4.47365e-05 ENSE00000702916_013 ENSE00000702916 013 8 121328120 121328289 + 63 54 53 A G 121328251 1912 132 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCGAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120316011 120316012 120316012 downstr_intron 15 1.28846153846154 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCGAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 876 777 0.952538037645686 0.815665731476539 0.884101884561113 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA 0.03865887379293 -0.136531547140518 0.847303664654195 0.933038221234906 NA -0.0489363366737938 NA FALSE NA 0 0.744 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 40/47 1 NA CAA A,G 8.238e-06 8:120316012 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 intron_variant 0.101007 0.10202 0.07039 0.126639 0.640018388275955 0.0527352 0.00136791753453828 FALSE 1.22136e-05 ENSE00000702916_014 ENSE00000702916 014 8 121328120 121328289 + 63 54 53 A C 121328252 1913 133 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCACGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120316012 120316013 120316013 downstr_intron 16 1.30769230769231 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCACGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 2337 661 0.825147293329479 0.73662872765327 0.780888010491375 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.0887318705232768 -0.215568550963786 0.847303664654195 0.933038221234906 NA -0.152150210743532 NA FALSE NA 0 -0.595 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 40/47 rs201347502 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AAG A,C 6.59e-05 8:120316013 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 intron_variant -0.165527 0.09241 0.02616 0.126639 0.651218932807896 0.0528419 0.00136791753453828 FALSE 5.29299e-05 ENSE00000702916_015 ENSE00000702916 015 8 121328120 121328289 + 63 54 53 G T 121328253 1914 134 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAATGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120316013 120316014 120316014 downstr_intron 17 1.32692307692308 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAATGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 601 341 0.924115580832341 0.95 0.937057790416171 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA 0.0102364169795849 -0.00219727861705643 0.847303664654195 0.933038221234906 NA 0.00401956918126423 NA FALSE NA 0 -1.002 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 40/47 1 NA AGG G,T 8.238e-06 8:120316014 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 intron_variant -0.132761 0.07793 0.02672 0.126639 0.650330921614724 0.0528419 0.00136791753453828 FALSE 4.07163e-06 ENSE00000702916_016 ENSE00000702916 016 8 121328120 121328289 + 63 54 53 T C 121328256 1915 137 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTCGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 120316016 120316017 120316017 downstr_intron 20 1.38461538461538 AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTCGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG mutant NA NA NA NA NA 136 27 0.85429354143431 0.95 0.902146770717155 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.0595856224184459 -0.00219727861705643 0.847303664654195 0.933038221234906 NA -0.0308914505177512 NA FALSE NA 0.347 2.696 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 40/47 1 NA TTG T,C 1.648e-05 8:120316017 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702916 intron_variant 0.036792 0.16423 0.40464 0.126639 0.646726513981377 0.0528419 0.00136791753453828 FALSE 4.07319e-06 ENSE00000702916_BRK ENSE00000702916 BRK 8 121328120 121328289 + 63 54 53 A,G; T,T NA NA NA AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACTTGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGCCAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG 120315880 120316050 NA NA NA NA NA NA AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACTTGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGCCAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG AGCTGCGTGAGCAGATGACTCATTCCTGTGAACCTGACTCTTTTTTGTCCCTGTTCTACACAGGGTATCCCAGGAGGCGTTGGTTCACCAGGACGTGATGGCTCACCAGGCCAGAGGGTAAGGTCTTGCCCAAGGTTGGTTTTTAGCAAAGTAGTGACCTTTTCACCAGG control NA NA NA NA NA 479 108 0 0 0 0.85 0.84460732930839 0.913879163852756 0.952197278617056 NA NA -0.913879163852756 -0.952197278617056 0.847303664654195 0.933038221234906 NA -0.933038221234906 NA TRUE NA NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702916 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00000702917_000 ENSE00000702917 000 8 121344317 121344486 + 63 54 53 NA NA NA NA NA AAATGAAGTGCTTTAAAACAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCCGGAAGGCCCTGGCGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 NA NA NA NA NA NA GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT natural 77 50 0.963548116249526 0.997780272452206 0.980664194350866 4374 4243 0.716246882385452 0.856242833728813 0.786244858057132 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 0 0 0 0 0.980664194350866 0.786244858057132 0 0 0 FALSE FALSE NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702917 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00000702917_001 ENSE00000702917 001 8 121344317 121344486 + 63 54 53 A G 121344329 1917 13 GAGCCCATTCTGGAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332089 120332090 120332090 upstr_intron -51 -0.793650793650794 GAGCCCATTCTGGAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 165 359 0.999069969986989 1 0.999534984993494 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.282823087601537 0.143757166271187 0.980664194350866 0.786244858057132 NA 0.213290126936362 NA FALSE NA 0.018 0.358 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 40/47 1 NA GAA A,G 8.236e-06 8:120332090 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 intron_variant 0.166026 0.15227 0.02196 0.053691 0.520567591264742 0.0632177 0.00136791753453828 FALSE 4.0873e-06 ENSE00000702917_002 ENSE00000702917 002 8 121344317 121344486 + 63 54 53 T C 121344338 1918 22 AAATGAAGTGCTTTAAAACAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCCGGAAGGCCCTGGCGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTGTATGGCTTTCAGAATGGGCTC 120332077 120332247 120332098 120332099 120332099 upstr_intron -42 -0.650793650793651 GAGCCCATTCTGAAAGCCATACAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 21 476 1 0.981486354346748 0.990743177173374 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.283753117614548 0.125243520617935 0.980664194350866 0.786244858057132 NA 0.204498319116242 NA FALSE NA 0 -0.432 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 40/47 1 NA ATA T,C 3.295e-05 8:120332099 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 intron_variant -0.37789 0.13008 0.01147 0.053691 0.243571074971639 0.0632177 0.00136791753453828 FALSE 1.62974e-05 ENSE00000702917_003 ENSE00000702917 003 8 121344317 121344486 + 63 54 53 C G 121344347 1919 31 AAATGAAGTGCTTTAAAACAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCCGGAAGGCCCTGGCGAAAAGAAACACAGCATGTCAGCAAGTCGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 120332107 120332108 120332108 upstr_intron -33 -0.507936507936508 GAGCCCATTCTGAAAGCCATATAAAGCAACGACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 433 583 0.992706267645893 1 0.996353133822947 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.276459385260442 0.143757166271187 0.980664194350866 0.786244858057132 NA 0.210108275765814 NA FALSE NA 0 -0.292 NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:120332108 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 intron_variant -0.221086 0.16256 0.0194 0.053691 0.314565835230127 0.0632177 0.00136791753453828 FALSE 1.22156e-05 ENSE00000702917_006 ENSE00000702917 006 8 121344317 121344486 + 63 54 53 C T 121344357 1922 41 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGATATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332117 120332118 120332118 upstr_intron -23 -0.349206349206349 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGATATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 1385 1359 0.999732270334618 0.951642270022518 0.975687270178568 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.283485387949167 0.0953994362937056 0.980664194350866 0.786244858057132 NA 0.189442412121436 NA FALSE NA 0.971 1.017 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 40/47 1 NA ACA C,T 8.236e-06 8:120332118 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 intron_variant 0.215473 0.18831 0.26072 0.053691 0.549663626418896 0.110481 0.00136791753453828 FALSE 1.22064e-05 ENSE00000702917_007 ENSE00000702917 007 8 121344317 121344486 + 63 54 53 C T 121344374 1923 58 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTTGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332134 120332135 120332135 upstr_intron -6 -0.0793650793650794 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTTGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 32 95 1 1 1 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.283753117614548 0.143757166271187 0.980664194350866 0.786244858057132 NA 0.213755141942868 NA FALSE NA 0 -0.089 . splice_region_variant&intron_variant LOW COL14A1 HGNC 2191 ENST00000309791 40/47 1 NA TCG C,T 4.118e-05 8:120332135 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 splice_region_variant 0.788105 0.16271 0.02408 0.053691 0.579682170072363 0.177038 0.00136791753453828 FALSE 4.88059e-05 ENSE00000702917_008 ENSE00000702917 008 8 121344317 121344486 + 63 54 53 G A 121344375 1924 59 AAATGAAGTGCTTTAAAACAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCCGGAAGGCCCTGGTGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 120332135 120332136 120332136 upstr_intron -5 -0.0634920634920635 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCACCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 1106 596 0.996492798970064 0.996419203868848 0.996456001419456 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.280245916584612 0.140176370140035 0.980664194350866 0.786244858057132 NA 0.210211143362324 NA FALSE NA 0 -0.678 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:120332136 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 splice_region_variant 0.361746 0.17952 0.01508 0.053691 0.73621104432768 0.189987 0.00136791753453828 FALSE 1.22023e-05 ENSE00000702917_009 ENSE00000702917 009 8 121344317 121344486 + 63 54 53 G C 121344375 1925 59 AAATGAAGTGCTTTAAAACAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCCGGAAGGCCCTGGGGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 120332135 120332136 120332136 upstr_intron -5 -0.0634920634920635 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCCCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 901 666 0.733416873029696 0.729388534095528 0.731402703562612 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.0171699906442442 -0.126854299633285 0.980664194350866 0.786244858057132 NA -0.0548421544945205 NA FALSE NA 0 -0.678 NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702917 splice_region_variant 0.049897 0.11762 0.00189 0.053691 0.68627552674971 0.189987 0.00136791753453828 FALSE 8.13484e-06 ENSE00000702917_011 ENSE00000702917 011 8 121344317 121344486 + 63 54 53 C T 121344387 1927 71 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCTGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332147 120332148 120332148 exon 8 0.148148148148148 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCTGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 274 452 0.926925107889063 0.998469914940336 0.962697511414699 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.210678225503611 0.142227081211523 0.980664194350866 0.786244858057132 NA 0.176452653357567 NA FALSE NA 0.999 3.917 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 41/48 rs199850589 1 deleterious(0.01) probably_damaging(1) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 0.00014 8:120332148 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 missense_variant 5.596784 0.98602 0.9422 0.706298 0.998898482658554 0 0.00136791753453828 FALSE 0.000105748 ENSE00000702917_012 ENSE00000702917 012 8 121344317 121344486 + 63 54 53 G A 121344388 1928 72 AAATGAAGTGCTTTAAAACAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCTGGAAGGCCCTGGCGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 120332148 120332149 120332149 exon 9 0.166666666666667 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCAGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 30 1055 1 0.9990880506593 0.99954402532965 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.283753117614548 0.142845216930487 0.980664194350866 0.786244858057132 NA 0.213299167272518 NA FALSE NA 0.911 -0.39 rs115085969 synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 41/48 rs115085969 1 A:0.0028 A:0.0068 A:0.0058 NA A:0 A:0.001 A:0 A:0.0068 A:0.0001 CGG G,A 0.0008978 8:120332149 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 synonymous_variant 1.376709 0.94087 0.20116 0.706298 0.564614211979551 0 0.00136791753453828 FALSE 0.000784949 ENSE00000702917_015 ENSE00000702917 015 8 121344317 121344486 + 63 54 53 C T 121344405 1931 89 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTTGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332165 120332166 120332166 exon 26 0.481481481481481 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTTGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 441 666 0.983507471813055 1 0.991753735906528 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.267260589427604 0.143757166271187 0.980664194350866 0.786244858057132 NA 0.205508877849395 NA FALSE NA 0.269 3.917 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 41/48 1 tolerated(0.22) benign(0.079) NA TCG C,T 8.236e-06 8:120332166 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 missense_variant 3.603441 0.98569 0.86711 0.706298 0.994870200794625 0 0.00136791753453828 FALSE 1.22017e-05 ENSE00000702917_016 ENSE00000702917 016 8 121344317 121344486 + 63 54 53 G A 121344406 1932 90 AAATGAAGTGCTTTAAAACAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCTGAGGATCCATCCTTTCCCGGAAGGCCCTGGCGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 120332166 120332167 120332167 exon 27 0.5 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCAGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 325 890 0.999528160549339 0.997392391865162 0.998460276207251 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.283281278163887 0.14114955813635 0.980664194350866 0.786244858057132 NA 0.212215418150119 NA FALSE NA 0.024 -2.325 . synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 41/48 rs202201394 1 A:0.0008 A:0 A:0.0014 NA A:0 A:0 A:0.0031 A:0 A:0.0002 CGG G,A 0.0004283 8:120332167 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 synonymous_variant 0.747094 0.93928 0.02415 0.706298 0.734291769718491 0 0.00136791753453828 FALSE 0.000484019 ENSE00000702917_017 ENSE00000702917 017 8 121344317 121344486 + 63 54 53 T C 121344432 1933 116 AAATGAAGTGCTTTAAAACAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTGTTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCCGGAAGGCCCTGGCGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 120332192 120332193 120332193 exon -2 0.981481481481482 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAACAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 685 59 0.997019755128143 1 0.998509877564072 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.280772872742692 0.143757166271187 0.980664194350866 0.786244858057132 NA 0.212265019506939 NA FALSE NA 1 2.602 . missense_variant&splice_region_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 41/48 1 tolerated(0.1) benign(0.023) NA ATA T,C 8.237e-06 8:120332193 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 missense_variant 1.975571 0.98502 0.95687 0.706298 0.926237739418314 0 0.00136791753453828 FALSE 4.0704e-06 ENSE00000702917_018 ENSE00000702917 018 8 121344317 121344486 + 63 54 53 A G 121344433 1934 117 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATGGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332193 120332194 120332194 exon -1 1 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATGGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 287 1291 0.999465636095945 0.996690005628975 0.99807782086246 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.283218753710494 0.140447171900162 0.980664194350866 0.786244858057132 NA 0.211832962805328 NA FALSE NA 1 0.168 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:120332194 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 missense_variant 0.237839 0.9487 0.37883 0.706298 0.789586865088327 0 0.00136791753453828 FALSE 4.0703e-06 ENSE00000702917_019 ENSE00000702917 019 8 121344317 121344486 + 63 54 53 A C 121344433 1935 117 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATCGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332193 120332194 120332194 exon -1 1 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATCGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 2608 3215 0.995211863859807 0.992109694260112 0.99366077905996 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.278964981474355 0.1358668605313 0.980664194350866 0.786244858057132 NA 0.207415921002827 NA FALSE NA 1 0.168 NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702917 splice_region_variant 0.071251 0.95703 0.46131 0.706298 0.520086471656403 0 0.00136791753453828 FALSE 8.1406e-06 ENSE00000702917_021 ENSE00000702917 021 8 121344317 121344486 + 63 54 53 G T 121344458 1937 142 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGTACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332218 120332219 120332219 downstr_intron 25 1.48076923076923 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGTACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 189 823 0.937175997019893 0.986901844851233 0.962038920935563 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.220929114634441 0.130659011122421 0.980664194350866 0.786244858057132 NA 0.175794062878431 NA FALSE NA 0.004 -0.457 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 41/47 1 NA GGA G,T 8.237e-06 8:120332219 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 intron_variant -0.376781 0.17299 0.09005 0.053691 0.678543710669776 0.0603618 0.00136791753453828 FALSE NA ENSE00000702917_022 ENSE00000702917 022 8 121344317 121344486 + 63 54 53 A G 121344461 1938 145 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACGTACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 120332221 120332222 120332222 downstr_intron 28 1.53846153846154 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACGTACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 984 1215 0.996046347674189 0.969376728489904 0.982711538082046 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.279799465288737 0.113133894761091 0.980664194350866 0.786244858057132 NA 0.196466680024914 NA FALSE NA 0 -0.378 rs73706436 intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 41/47 rs73706436 1 G:0.0198 G:0.0703 G:0.0058 NA G:0 G:0.002 G:0 G:0.0565 G:0.0007 CAT A,G 0.005782 8:120332222 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 intron_variant -0.168977 0.0714 0.00035 0.053691 0.419692678939233 0.0603618 0.00136791753453828 FALSE 0.00450654 ENSE00000702917_024 ENSE00000702917 024 8 121344317 121344486 + 63 54 53 G C 121344468 1940 152 AAATGAAGTGCTTTAAAAGAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCCGGAAGGCCCTGGCGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 120332228 120332229 120332229 downstr_intron 35 1.67307692307692 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTCTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 116 233 0.993187856794303 0.981394455816256 0.987291156305279 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.276940974408851 0.125151622087443 0.980664194350866 0.786244858057132 NA 0.201046298248147 NA FALSE NA 0 -0.31 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 41/47 1 NA TGT G,C 8.237e-06 8:120332229 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 intron_variant -0.188826 0.16289 0.06182 0.053691 0.373664560437978 0.0603618 0.00136791753453828 FALSE 4.11022e-06 ENSE00000702917_025 ENSE00000702917 025 8 121344317 121344486 + 63 54 53 T C 121344469 1941 153 AAATGAAGTGCTTTAAAGCAGAGTATGTCCCAGTAGTTTCTGGAAAGGCTTACTATTGGCCCTGGTGGTCCTGGAGGTCCCGAGGATCCATCCTTTCCCGGAAGGCCCTGGCGAAAAGAAACACAGCATGTCAGCAAGTGGTTGCTTTATATGGCTTTCAGAATGGGCTC 120332077 120332247 120332229 120332230 120332230 downstr_intron 36 1.69230769230769 GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGCTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT mutant NA NA NA NA NA 1051 1768 0.921047015910451 0.996965043506386 0.959006029708418 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 NA NA 0.204800133524999 0.140722209777573 0.980664194350866 0.786244858057132 NA 0.172761171651286 NA FALSE NA 0 -0.814 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 41/47 1 NA GTT T,C 8.237e-06 8:120332230 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702917 intron_variant -0.379324 0.08701 9e-04 0.053691 0.454756695862018 0.0603618 0.00136791753453828 FALSE 8.22078e-06 ENSE00000702917_BRK ENSE00000702917 BRK 8 121344317 121344486 + 63 54 53 A,G; T,T NA NA NA GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCTTGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATACCAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT 120332077 120332247 NA NA NA NA NA NA GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCTTGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATACCAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT GAGCCCATTCTGAAAGCCATATAAAGCAACCACTTGCTGACATGCTGTGTTTCTTTTCGCCAGGGCCTTCCGGGAAAGGATGGATCCTCGGGACCTCCAGGACCACCAGGGCCAATAGTAAGCCTTTCCAGAAACTACTGGGACATACTCTGTTTTAAAGCACTTCATTT control 190 320 0.243083613088229 0.0687174743348976 0.155900543711563 511 1454 0 0 0 0.963548116249526 0.997780272452206 0.716246882385452 0.856242833728813 -0.720464503161297 -0.929062798117308 -0.716246882385452 -0.856242833728813 0.980664194350866 0.786244858057132 -0.824763650639302 -0.786244858057132 0.0385187925821702 TRUE TRUE NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702917 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00000702919_000 ENSE00000702919 000 8 121344849 121345018 + 54 72 44 NA NA NA NA NA TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC 120332609 120332779 NA NA NA NA NA NA TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC natural NA NA NA NA NA 690 872 0.896109511264349 0.897179179287809 0.896644345276079 NA NA 0.896109511264349 0.897179179287809 NA NA 0 0 NA 0.896644345276079 NA 0 NA FALSE NA NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00000702919 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00000702919_002 ENSE00000702919 002 8 121344849 121345018 + 54 72 44 C T 121344868 1943 20 TTGATGAGAATGTGTGATTTCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC 120332609 120332779 120332628 120332629 120332629 upstr_intron -35 -0.62962962962963 TTGATGAGAATGTGTGATTTCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC mutant NA NA NA NA NA 178 445 0.988614068858308 1 0.994307034429154 NA NA 0.896109511264349 0.897179179287809 NA NA 0.0925045575939589 0.102820820712191 NA 0.896644345276079 NA 0.0976626891530749 NA FALSE NA 0 -0.821 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 41/47 1 NA TCC C,T 8.238e-06 8:120332629 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702919 intron_variant 0.55734 0.13449 0.03488 0.053691 0.635404729319543 0.112627 0.00136791753453828 FALSE 4.21479e-06 ENSE00000702919_003 ENSE00000702919 003 8 121344849 121345018 + 54 72 44 T C 121344889 1944 41 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCCACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC 120332609 120332779 120332649 120332650 120332650 upstr_intron -14 -0.240740740740741 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCCACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC mutant NA NA NA NA NA 131 296 0.976994559360074 0.8 0.888497279680037 NA NA 0.896109511264349 0.897179179287809 NA NA 0.0808850480957252 -0.0971791792878092 NA 0.896644345276079 NA -0.008147065596042 NA FALSE NA 0 0.755 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 41/47 1 NA CTA T,C 1.648e-05 8:120332650 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702919 intron_variant 0.152297 0.41864 0.08739 0.053691 0.661593186887104 0.905403 0.00136791753453828 FALSE 8.28754e-06 ENSE00000702919_006 ENSE00000702919 006 8 121344849 121345018 + 54 72 44 T C 121344925 1947 77 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGCCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC 120332609 120332779 120332685 120332686 120332686 exon 23 0.319444444444444 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGCCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC mutant NA NA NA NA NA 21 1360 1 0.999883694180535 0.999941847090268 NA NA 0.896109511264349 0.897179179287809 NA NA 0.103890488735651 0.102704514892726 NA 0.896644345276079 NA 0.103297501814189 NA FALSE NA 0.996 1.051 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 42/48 1 tolerated(0.53) benign(0.009) NA GTC T,C 1.647e-05 8:120332686 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702919 missense_variant 0.899013 0.97074 0.65944 0.706298 0.781474094537676 0 0.00136791753453828 FALSE 1.63276e-05 ENSE00000702919_007 ENSE00000702919 007 8 121344849 121345018 + 54 72 44 A T 121344929 1948 81 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCTGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC 120332609 120332779 120332689 120332690 120332690 exon 27 0.375 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCTGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC mutant NA NA NA NA NA 284 179 1 1 1 NA NA 0.896109511264349 0.897179179287809 NA NA 0.103890488735651 0.102820820712191 NA 0.896644345276079 NA 0.103355654723921 NA FALSE NA 0.038 -1.279 rs147623718 synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 42/48 rs147623718 1 NA T:0 T:0.0001 CAG A,T 8.237e-06 8:120332690 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702919 synonymous_variant -1.20989 0.87472 0.06111 0.706298 0.267771658983346 0 0.00136791753453828 FALSE NA ENSE00000702919_010 ENSE00000702919 010 8 121344849 121345018 + 54 72 44 A C 121344956 1951 108 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCACGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC 120332609 120332779 120332716 120332717 120332717 exon -19 0.75 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCACGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC mutant NA NA NA NA NA 550 277 1 0.998053054358789 0.999026527179394 NA NA 0.896109511264349 0.897179179287809 NA NA 0.103890488735651 0.100873875070979 NA 0.896644345276079 NA 0.102382181903315 NA FALSE NA 1 1.648 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 42/48 1 tolerated(0.6) probably_damaging(0.995) NA AAG A,C 8.237e-06 8:120332717 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702919 missense_variant 2.889705 0.97362 0.78341 0.706298 0.996713937669069 0 0.00136791753453828 FALSE NA ENSE00000702919_011 ENSE00000702919 011 8 121344849 121345018 + 54 72 44 C T 121344959 1952 111 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGTGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC 120332609 120332779 120332719 120332720 120332720 exon -16 0.791666666666667 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGTGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC mutant NA NA NA NA NA 66 639 1 1 1 NA NA 0.896109511264349 0.897179179287809 NA NA 0.103890488735651 0.102820820712191 NA 0.896644345276079 NA 0.103355654723921 NA FALSE NA 0.313 -1.031 NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:120332720 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702919 synonymous_variant 1.909956 0.93342 0.03793 0.706298 0.632236498945115 0 0.00136791753453828 FALSE 0.000679048 ENSE00000702919_015 ENSE00000702919 015 8 121344849 121345018 + 54 72 44 G A 121344988 1956 140 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCAGTAGCTGCTCAGAATGTAGGCCCAGTCATC 120332609 120332779 120332748 120332749 120332749 downstr_intron 14 1.32558139534884 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCAGTAGCTGCTCAGAATGTAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC mutant NA NA NA NA NA 19 506 1 1 1 NA NA 0.896109511264349 0.897179179287809 NA NA 0.103890488735651 0.102820820712191 NA 0.896644345276079 NA 0.103355654723921 NA FALSE NA 0 -1.301 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 1 NA CGG G,A 7.418e-05 8:120332749 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702919 intron_variant -0.651962 0.09021 0.00122 0.053691 0.538682915693403 0.121087 0.00136791753453828 FALSE 6.2654e-05 ENSE00000702919_016 ENSE00000702919 016 8 121344849 121345018 + 54 72 44 G A 121345004 1957 156 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATATAGGCCCAGTCATC 120332609 120332779 120332764 120332765 120332765 downstr_intron 30 1.69767441860465 TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATATAGGCCCAGTCATC TTGATGAGAATGTGTGATTCCTGACTTTGTTCCATTTTCCTACCTCTCTTCTAGGGCATTCCTGGCACCCCTGGAGTCCCAGGGATCACAGGAAGCATGGGACCGCAAGGCGCCCTGGGACCACCTGTGAGTATGCAGCGGTAGCTGCTCAGAATGTAGGCCCAGTCATC mutant NA NA NA NA NA 82 97 1 1 1 NA NA 0.896109511264349 0.897179179287809 NA NA 0.103890488735651 0.102820820712191 NA 0.896644345276079 NA 0.103355654723921 NA FALSE NA 0 -0.222 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 1 NA TGT G,A 8.243e-06 8:120332765 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00000702919 intron_variant 0.201552 0.14986 0.00904 0.053691 0.530559331653891 0.0497383 0.00136791753453828 FALSE 4.37132e-06 ENSE00000703542_000 ENSE00000703542 000 4 8416539 8416708 - 42 75 53 NA NA NA NA NA AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 NA NA NA NA NA NA AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG natural 80 168 0.939958271153933 0.968386185919694 0.954172228536813 2299 1709 0.99797771243837 0.99232463336995 0.99515117290416 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 0 0 0 0 0.954172228536813 0.99515117290416 0 0 0 FALSE FALSE NA NA NA NA NA ACOX3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACOX3 NA NA NA ENSG00000087008 ENSE00003519221 NA NA NA NA NA NA NA 3.03156501744108e-12 FALSE NA ENSE00000703542_001 ENSE00000703542 001 4 8416539 8416708 - 42 75 53 G T 8416551 518 158 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGACTGGTTCTCTTG 8414811 8414981 8414823 8414824 8414824 downstr_intron 30 1.73170731707317 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGACTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 6218 1354 0.983863910397629 0.996729968189444 0.990296939293536 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA -0.0141138020407412 0.00440533481949423 0.954172228536813 0.99515117290416 NA -0.00485423361062348 NA FALSE NA 0 0.045 . intron_variant MODIFIER ACOX3 HGNC 121 ENST00000514423 3/4 rs201636232 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GGC G,T 8.236e-06 4:8414824 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 intron_variant -0.223442 0.16033 0.07975 0.156188 0.498670621954229 0.0637256 3.03156501744108e-12 FALSE 4.06111e-06 ENSE00000703542_004 ENSE00000703542 004 4 8416539 8416708 - 42 75 53 A G 8416569 521 140 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGCTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414841 8414842 8414842 downstr_intron 12 1.29268292682927 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGCTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 18 140 0.95 0.977332947058495 0.963666473529248 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA -0.04797771243837 -0.0149916863114544 0.954172228536813 0.99515117290416 NA -0.0314846993749122 NA FALSE NA 0 -3.657 . intron_variant MODIFIER ACOX3 HGNC 121 ENST00000514423 3/4 1 NA AAC A,G 1.647e-05 4:8414842 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 intron_variant -0.650547 0.06123 0.00744 0.156188 0.321830097961699 0.0637256 3.03156501744108e-12 FALSE 8.12143e-06 ENSE00000703542_008 ENSE00000703542 008 4 8416539 8416708 - 42 75 53 T G 8416586 525 123 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGCTGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414858 8414859 8414859 exon -6 0.933333333333333 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGCTGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 226 602 0.995546055722594 0.999936757881158 0.997741406801876 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA -0.00243165671577594 0.00761212451120763 0.954172228536813 0.99515117290416 NA 0.00259023389771584 NA FALSE NA 0.593 0.769 rs73211315 missense_variant MODERATE ACOX3 HGNC 121 ENST00000514423 3/5 rs73211315 1 tolerated(0.83) benign(0.002) G:0.0090 G:0.0015 G:0.0014 NA G:0 G:0.0099 G:0.0327 G:0.0061 G:0.0083 ATC T,G 0.012 4:8414859 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 missense_variant -0.654774 0.69227 0.55768 0.706548 0.323095042894136 0 3.03156501744108e-12 FALSE 0.0115892 ENSE00000703542_009 ENSE00000703542 009 4 8416539 8416708 - 42 75 53 C T 8416587 526 122 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGAATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414859 8414860 8414860 exon -7 0.92 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGAATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 912 161 0.875388544591599 1 0.937694272295799 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA -0.122589167846771 0.00767536663005008 0.954172228536813 0.99515117290416 NA -0.0574569006083606 NA FALSE NA 0 -0.511 . synonymous_variant LOW ACOX3 HGNC 121 ENST00000514423 3/5 1 NA TCC C,T 6.589e-05 4:8414860 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 synonymous_variant 0.405554 0.12011 0.0178 0.706548 0.331340906638265 0 3.03156501744108e-12 FALSE 7.30929e-05 ENSE00000703542_010 ENSE00000703542 010 4 8416539 8416708 - 42 75 53 C T 8416588 527 121 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAAGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414860 8414861 8414861 exon -8 0.906666666666667 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAAGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 33 111 1 1 1 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA 0.00202228756163003 0.00767536663005008 0.954172228536813 0.99515117290416 NA 0.00484882709584006 NA FALSE NA 0 -0.613 . missense_variant MODERATE ACOX3 HGNC 121 ENST00000514423 3/5 1 tolerated(0.43) benign(0.002) NA CCT C,T 1.647e-05 4:8414861 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 missense_variant -1.720376 0.06685 0.00135 0.706548 0.588981584554881 0 3.03156501744108e-12 FALSE 8.1213e-06 ENSE00000703542_011 ENSE00000703542 011 4 8416539 8416708 - 42 75 53 T C 8416589 528 120 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCGGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414861 8414862 8414862 exon -9 0.893333333333333 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCGGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 141 40 1 1 1 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA 0.00202228756163003 0.00767536663005008 0.954172228536813 0.99515117290416 NA 0.00484882709584006 NA FALSE NA 0.001 0.813 rs114127771 missense_variant MODERATE ACOX3 HGNC 121 ENST00000514423 3/5 rs114127771&COSM481612 1 deleterious(0.05) benign(0.002) C:0.0008 C:0.0008 C:0 NA C:0 C:0.002 C:0.001 C:0 C:0.0021 CTG T,C 0.001194 4:8414862 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 missense_variant 0.288876 0.21619 0.11408 0.706548 0.929834549432132 0 3.03156501744108e-12 FALSE 0.00135626 ENSE00000703542_013 ENSE00000703542 013 4 8416539 8416708 - 42 75 53 A T 8416612 530 97 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCACACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414884 8414885 8414885 exon -32 0.586666666666667 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCACACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 141 1836 1 0.998577913382338 0.999288956691169 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA 0.00202228756163003 0.00625328001238845 0.954172228536813 0.99515117290416 NA 0.00413778378700924 NA FALSE NA 0 0.271 . missense_variant MODERATE ACOX3 HGNC 121 ENST00000514423 3/5 rs372380982&COSM1196841 1 tolerated(0.56) benign(0.002) NA T:0.0002 T:0 GAG A,T 8.236e-06 4:8414885 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 missense_variant -0.514699 0.17587 0.04684 0.706548 0.2136233782873 0 3.03156501744108e-12 FALSE 1.21817e-05 ENSE00000703542_016 ENSE00000703542 016 4 8416539 8416708 - 42 75 53 A C 8416650 533 59 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTGGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414922 8414923 8414923 exon 6 0.08 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTGGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 136 1495 1 0.998945964015161 0.99947298200758 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA 0.00202228756163003 0.00662133064521087 0.954172228536813 0.99515117290416 NA 0.00432180910342045 NA FALSE NA 0.184 0.644 . missense_variant MODERATE ACOX3 HGNC 121 ENST00000514423 3/5 1 deleterious(0.02) benign(0.179) NA CAA A,C 8.237e-06 4:8414923 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 missense_variant 0.92862 0.45205 0.53757 0.706298 0.993882246364896 0 3.03156501744108e-12 FALSE 1.62438e-05 ENSE00000703542_017 ENSE00000703542 017 4 8416539 8416708 - 42 75 53 A G 8416664 534 45 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTACACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414936 8414937 8414937 upstr_intron -9 -0.150943396226415 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTACACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 205 196 0.866470872807503 0.8 0.833235436403752 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA -0.131506839630867 -0.19232463336995 0.954172228536813 0.99515117290416 NA -0.161915736500408 NA FALSE NA 0.032 0.887 . intron_variant MODIFIER ACOX3 HGNC 121 ENST00000514423 2/4 1 NA TAT A,G 8.236e-06 4:8414937 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 intron_variant 0.043584 0.19804 0.0458 0.062308 0.496548849415698 0.114684 3.03156501744108e-12 FALSE 8.12209e-06 ENSE00000703542_018 ENSE00000703542 018 4 8416539 8416708 - 42 75 53 C T 8416671 535 38 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACAATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414943 8414944 8414944 upstr_intron -16 -0.283018867924528 AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACAATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 36 39 1 1 1 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA 0.00202228756163003 0.00767536663005008 0.954172228536813 0.99515117290416 NA 0.00484882709584006 NA FALSE NA 0 -1.614 . intron_variant MODIFIER ACOX3 HGNC 121 ENST00000514423 2/4 rs552824668 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 TCG C,T 0.0003459 4:8414944 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 intron_variant -0.293274 0.13046 0.00592 0.062308 0.386548521617528 0.0510595 3.03156501744108e-12 FALSE 0.00037365 ENSE00000703542_022 ENSE00000703542 022 4 8416539 8416708 - 42 75 53 G A 8416688 539 21 AGCAGTACTCTTCTTACCTGTCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 8414960 8414961 8414961 upstr_intron -33 -0.60377358490566 AGCAGTACTCTTCTTACCTGTCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG mutant NA NA NA NA NA 61 256 1 0.980099990212981 0.99004999510649 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 NA NA 0.00202228756163003 -0.0122246431569693 0.954172228536813 0.99515117290416 NA -0.00510117779766961 NA FALSE NA 0 0.107 . intron_variant MODIFIER ACOX3 HGNC 121 ENST00000514423 2/4 1 NA GGC G,A 8.237e-06 4:8414961 ACOX3 HGNC Symbol protein_coding 74441 ENSG00000087008 ENSE00003519221 intron_variant -0.064738 0.08612 0.01048 0.062308 0.656792365674643 0.0518458 3.03156501744108e-12 FALSE 4.06342e-06 ENSE00000703542_BRK ENSE00000703542 BRK 4 8416539 8416708 - 42 75 53 A,G; T,T NA NA NA AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCTTGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGCCAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG 8414811 8414981 NA NA NA NA NA NA AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCTTGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGCCAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG AGCAGTACTCTTCTTACCTGCCCCCTGTTGATAGGACGATGTTATACTTTCAGGTTTTTGGATCAGCAGTTTACAGTTCTGGTTCTGAAAGACATCTCACATATATTCAAAAGATCTTCAGGATGGAGGTAAGTTCTGGTTCATGGTAAATTGTGAGCCTGGTTCTCTTG control 240 23 0.0109342299331839 0.117897668137938 0.0644159490355608 155 1227 0 0.0273852199428036 0.0136926099714018 0.939958271153933 0.968386185919694 0.99797771243837 0.99232463336995 -0.929024041220749 -0.850488517781756 -0.99797771243837 -0.964939413427146 0.954172228536813 0.99515117290416 -0.889756279501253 -0.981458562932758 0.0917022834315054 TRUE TRUE NA NA NA NA NA ACOX3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACOX3 NA NA NA ENSG00000087008 ENSE00003519221 NA NA NA NA NA NA NA 3.03156501744108e-12 FALSE NA ENSE00000704071_000 ENSE00000704071 000 4 10509542 10509711 - 41 78 51 NA NA NA NA NA TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 NA NA NA NA NA NA TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG natural 39 37 0.999563145691059 1 0.999781572845529 5091 4980 0.823218032493844 0.993452148051863 0.908335090272854 0.999563145691059 1 0.823218032493844 0.993452148051863 0 0 0 0 0.999781572845529 0.908335090272854 0 0 0 FALSE FALSE NA NA NA NA NA CLNK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLNK NA NA NA ENSG00000109684 ENSE00000704071 NA NA NA NA NA NA NA 1.34591221879556e-20 FALSE NA ENSE00000704071_001 ENSE00000704071 001 4 10509542 10509711 - 41 78 51 C T 10509552 541 160 CCTATAGAAATAATAATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507927 10507928 10507928 downstr_intron 31 1.775 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTATTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1684 4013 0.999681874116045 0.998009858818415 0.99884586646723 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.1764638416222 0.00455771076655231 0.999781572845529 0.908335090272854 NA 0.0905107761943764 NA FALSE NA 0 -0.737 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 17/18 rs565223015 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACA C,T 1.657e-05 4:10507928 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant 0.031172 0.18349 0.02653 0.074636 0.644773797614824 0.0455939 1.34591221879556e-20 FALSE 1.0278e-05 ENSE00000704071_002 ENSE00000704071 002 4 10509542 10509711 - 41 78 51 A G 10509556 542 156 CCTATAGAAACAATGATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507931 10507932 10507932 downstr_intron 27 1.675 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATCATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1137 280 0.996477052395658 1 0.998238526197829 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.173259019901814 0.00654785194813723 0.999781572845529 0.908335090272854 NA 0.0899034359249754 NA FALSE NA 0.013 0.294 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 17/18 1 NA TAA A,G 1.657e-05 4:10507932 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant -0.076812 0.08352 0.00113 0.074636 0.333974177669815 0.0455939 1.34591221879556e-20 FALSE 1.99177e-05 ENSE00000704071_003 ENSE00000704071 003 4 10509542 10509711 - 41 78 51 C T 10509565 543 147 CCTATAGAAACAATAATGATGGGTCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507940 10507941 10507941 downstr_intron 18 1.45 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGACCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 2777 1667 0.998977241484514 0.996855044211342 0.997916142847928 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.17575920899067 0.00340289615947964 0.999781572845529 0.908335090272854 NA 0.0895810525750748 NA FALSE NA 0 -0.105 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 17/18 1 NA GCC C,T 8.279e-06 4:10507941 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant 0.155403 0.21324 0.03386 0.074636 0.28080757335841 0.0455939 1.34591221879556e-20 FALSE NA ENSE00000704071_004 ENSE00000704071 004 4 10509542 10509711 - 41 78 51 C T 10509566 544 146 CCTATAGAAACAATAATGATGGGCTACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507941 10507942 10507942 downstr_intron 17 1.425 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTAGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 660 48 1 1 1 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.176781967506156 0.00654785194813723 0.999781572845529 0.908335090272854 NA 0.0916649097271465 NA FALSE NA 0 -0.036 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 17/18 1 NA CCA C,T 8.278e-06 4:10507942 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant 0.011198 0.16744 0.02315 0.074636 0.365415269019321 0.0455939 1.34591221879556e-20 FALSE NA ENSE00000704071_005 ENSE00000704071 005 4 10509542 10509711 - 41 78 51 C T 10509568 545 144 CCTATAGAAACAATAATGATGGGCCATGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507943 10507944 10507944 downstr_intron 15 1.375 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACATGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1320 748 0.999508913631976 1 0.999754456815988 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.176290881138132 0.00654785194813723 0.999781572845529 0.908335090272854 NA 0.0914193665431344 NA FALSE NA 0 -3.738 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 17/18 1 NA ACG C,T 8.277e-06 4:10507944 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant -0.422512 0.09026 0.00347 0.074636 0.517103668361136 0.0455939 1.34591221879556e-20 FALSE 2.74198e-05 ENSE00000704071_006 ENSE00000704071 006 4 10509542 10509711 - 41 78 51 G A 10509569 546 143 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTATGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10507944 10507945 10507945 downstr_intron 14 1.35 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTATGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 737 507 0.998934199838122 0.999924902194328 0.999429551016225 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.175716167344278 0.00647275414246529 0.999781572845529 0.908335090272854 NA 0.0910944607433716 NA FALSE NA 0 -0.196 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 17/18 rs376552124 1 NA A:0 A:0.0002 CGT G,A 4.138e-05 4:10507945 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant -0.077498 0.19437 0.0202 0.074636 0.366075822640764 0.0455939 1.34591221879556e-20 FALSE 4.52542e-05 ENSE00000704071_007 ENSE00000704071 007 4 10509542 10509711 - 41 78 51 A G 10509578 547 134 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCGTTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507953 10507954 10507954 downstr_intron 5 1.125 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAACGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 651 1963 0.994454414130769 0.999611314383484 0.997032864257126 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.171236381636925 0.00615916633162106 0.999781572845529 0.908335090272854 NA 0.0886977739842728 NA FALSE NA 0 -3.784 . splice_region_variant&intron_variant LOW CLNK HGNC 17438 ENST00000226951 17/18 1 NA CAT A,G 8.274e-05 4:10507954 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 splice_region_variant -0.173986 0.09075 0.00321 0.074636 0.481975318434522 0.0959383 1.34591221879556e-20 FALSE 8.73286e-05 ENSE00000704071_008 ENSE00000704071 008 4 10509542 10509711 - 41 78 51 C T 10509582 548 130 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTATCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507957 10507958 10507958 downstr_intron 1 1.025 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGATAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 115 183 0.0861006692241511 0.0492077702609832 0.0676542197425671 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA -0.737117363269693 -0.94424437779088 0.999781572845529 0.908335090272854 NA -0.840680870530286 NA TRUE NA 1 3.834 . splice_donor_variant HIGH CLNK HGNC 17438 ENST00000226951 17/18 COSM732052&COSM732053 1 NA HC ACC C,T 8.274e-06 4:10507958 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 splice_donor_variant 4.644367 0.98338 0.87583 0.074636 0.994073687522157 0.964808 1.34591221879556e-20 FALSE NA ENSE00000704071_009 ENSE00000704071 009 4 10509542 10509711 - 41 78 51 G T 10509586 549 126 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTACCTTTTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507961 10507962 10507962 exon -4 0.961538461538462 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAAAAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 476 932 1 0.995895236164247 0.997947618082124 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.176781967506156 0.00244308811238469 0.999781572845529 0.908335090272854 NA 0.0896125278092702 NA FALSE NA 1 1.195 . missense_variant MODERATE CLNK HGNC 17438 ENST00000226951 17/19 1 deleterious(0.02) benign(0.075) NA TGT G,T 8.274e-06 4:10507962 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant 3.283282 0.96892 0.7738 0.553676 0.996810116827172 0 1.34591221879556e-20 FALSE NA ENSE00000704071_010 ENSE00000704071 010 4 10509542 10509711 - 41 78 51 T G 10509593 550 119 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGACGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10507968 10507969 10507969 exon -11 0.871794871794872 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGACGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1549 1054 0.957236502140457 0.993257013735453 0.975246757937955 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.134018469646612 -0.000195134316409273 0.999781572845529 0.908335090272854 NA 0.0669116676651015 NA FALSE NA 0.009 0.102 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:10507969 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant 3.877777 0.23522 0.03644 0.553676 0.996157638711141 0 1.34591221879556e-20 FALSE NA ENSE00000704071_011 ENSE00000704071 011 4 10509542 10509711 - 41 78 51 T A 10509593 551 119 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGATGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10507968 10507969 10507969 exon -11 0.871794871794872 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGATGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1504 1232 0.905669830307015 1 0.952834915153507 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.0824517978131704 0.00654785194813723 0.999781572845529 0.908335090272854 NA 0.0444998248806538 NA FALSE NA 0.009 0.102 NA NA NA CLNK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLNK NA NA NA ENSG00000109684 ENSE00000704071 missense_variant 4.236989 0.24139 0.04149 0.553676 0.992728022574571 0 1.34591221879556e-20 FALSE NA ENSE00000704071_012 ENSE00000704071 012 4 10509542 10509711 - 41 78 51 G A 10509598 552 114 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTTATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10507973 10507974 10507974 exon -16 0.807692307692308 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTTATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1334 1221 0.977671642978021 0.906013453824885 0.941842548401453 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.154453610484177 -0.0874386942269779 0.999781572845529 0.908335090272854 NA 0.0335074581285996 NA FALSE NA 0.001 -0.47 . synonymous_variant LOW CLNK HGNC 17438 ENST00000226951 17/19 1 NA TGA G,A 2.482e-05 4:10507974 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 synonymous_variant -0.064511 0.15297 0.01273 0.553676 0.556853180052958 0 1.34591221879556e-20 FALSE 8.40167e-06 ENSE00000704071_013 ENSE00000704071 013 4 10509542 10509711 - 41 78 51 A G 10509600 553 112 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAGTGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507975 10507976 10507976 exon -18 0.782051282051282 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCACTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1106 2915 0.999962784959654 0.967443830589536 0.983703307774595 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.17674475246581 -0.0260083174623267 0.999781572845529 0.908335090272854 NA 0.0753682175017414 NA FALSE NA 0 -0.571 . missense_variant MODERATE CLNK HGNC 17438 ENST00000226951 17/19 1 tolerated(1) benign(0) NA AAT A,G 8.273e-06 4:10507976 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant -1.090957 0.17881 0.01572 0.553676 0.220587688830032 0 1.34591221879556e-20 FALSE 2.9301e-05 ENSE00000704071_014 ENSE00000704071 014 4 10509542 10509711 - 41 78 51 T C 10509608 554 104 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGGAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10507983 10507984 10507984 exon -26 0.67948717948718 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGGAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 144 780 1 0.998074166642067 0.999037083321033 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.176781967506156 0.00462201859020384 0.999781572845529 0.908335090272854 NA 0.0907019930481798 NA FALSE NA 1 3.935 . missense_variant MODERATE CLNK HGNC 17438 ENST00000226951 17/19 1 deleterious(0) probably_damaging(1) NA TTC T,C 1.655e-05 4:10507984 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant 4.958612 0.98069 0.86833 0.553676 0.999069783847146 0 1.34591221879556e-20 FALSE 2.07847e-05 ENSE00000704071_016 ENSE00000704071 016 4 10509542 10509711 - 41 78 51 A G 10509611 556 101 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCGCTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10507986 10507987 10507987 exon -29 0.641025641025641 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGCGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 389 310 0.99946983219511 0.992269233209502 0.995869532702306 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.176251799701265 -0.00118291484236044 0.999781572845529 0.908335090272854 NA 0.0875344424294524 NA FALSE NA 0.643 1.084 NA NA NA CLNK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:10507987 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant -1.038937 0.25276 0.12163 0.553676 0.581194814435776 0 1.34591221879556e-20 FALSE 0.000257458 ENSE00000704071_018 ENSE00000704071 018 4 10509542 10509711 - 41 78 51 G A 10509625 558 87 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATATAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10508000 10508001 10508001 exon 36 0.461538461538462 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATATAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 2292 1022 0.96007730539579 0.86698235264745 0.91352982902162 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.136859272901946 -0.126469795404412 0.999781572845529 0.908335090272854 NA 0.00519473874876669 NA FALSE NA 0.521 0.467 rs145249331 synonymous_variant LOW CLNK HGNC 17438 ENST00000226951 17/19 rs145249331 1 A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 TGT G,A 0.0001903 4:10508001 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 synonymous_variant -0.639486 0.90817 0.21368 0.638212 0.303438810019494 0 1.34591221879556e-20 FALSE 0.00017797 ENSE00000704071_020 ENSE00000704071 020 4 10509542 10509711 - 41 78 51 C A 10509641 560 71 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATTGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10508016 10508017 10508017 exon 20 0.256410256410256 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATTGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1152 462 1 0.99798849546889 0.998994247734445 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.176781967506156 0.00453634741702758 0.999781572845529 0.908335090272854 NA 0.0906591574615916 NA FALSE NA 1 3.834 . missense_variant MODERATE CLNK HGNC 17438 ENST00000226951 17/19 1 deleterious(0) probably_damaging(0.999) NA CCA C,A 8.275e-06 4:10508017 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant 6.3547 0.98404 0.89739 0.638212 0.98307130551192 0 1.34591221879556e-20 FALSE NA ENSE00000704071_021 ENSE00000704071 021 4 10509542 10509711 - 41 78 51 T G 10509648 561 64 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACCATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10508023 10508024 10508024 exon 13 0.166666666666667 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACCATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 2379 1815 0.88098155163528 0.99665846296433 0.938820007299805 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.057763519141436 0.00320631491246737 0.999781572845529 0.908335090272854 NA 0.0304849170269517 NA FALSE NA 0.893 0.747 . missense_variant MODERATE CLNK HGNC 17438 ENST00000226951 17/19 rs200377023 1 tolerated(0.3) benign(0.033) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TTG T,G 8.275e-06 4:10508024 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant -0.516761 0.18156 0.02808 0.638212 0.873893905182244 0 1.34591221879556e-20 FALSE 4.14552e-06 ENSE00000704071_022 ENSE00000704071 022 4 10509542 10509711 - 41 78 51 C G 10509652 562 60 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCACCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10508027 10508028 10508028 exon 9 0.115384615384615 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCACCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 641 622 1 0.998205671390134 0.999102835695067 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.176781967506156 0.00475352333827117 0.999781572845529 0.908335090272854 NA 0.0907677454222134 NA FALSE NA 0.029 -0.018 . missense_variant MODERATE CLNK HGNC 17438 ENST00000226951 17/19 COSM363964&COSM1426099&COSM1426100&COSM363965 1 deleterious(0.03) benign(0.101) NA GCT C,G 8.275e-06 4:10508028 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant 0.579399 0.33789 0.05687 0.638212 0.368430398712846 0 1.34591221879556e-20 FALSE 4.16424e-06 ENSE00000704071_023 ENSE00000704071 023 4 10509542 10509711 - 41 78 51 C T 10509660 563 52 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATTCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10508035 10508036 10508036 exon 1 0.0128205128205128 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGAATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 423 3082 0.968017733815127 0.999266366309442 0.983642050062284 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.144799701321282 0.00581421825757933 0.999781572845529 0.908335090272854 NA 0.0753069597894309 NA FALSE NA 0.873 1.068 . missense_variant&splice_region_variant MODERATE CLNK HGNC 17438 ENST00000226951 17/19 rs535933965 1 deleterious(0.01) possibly_damaging(0.821) T:0.0008 T:0 T:0 NA T:0.004 T:0 T:0 TCC C,T 4.138e-05 4:10508036 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 missense_variant 2.553557 0.79258 0.39075 0.638212 0.984642906968214 0 1.34591221879556e-20 FALSE 3.36629e-05 ENSE00000704071_025 ENSE00000704071 025 4 10509542 10509711 - 41 78 51 A T 10509668 565 44 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGATCAGAATCAATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10508043 10508044 10508044 upstr_intron -8 -0.137254901960784 TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGATCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 655 2636 0.847711983779084 0.996774221286303 0.922243102532693 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.0244939512852392 0.00332207323444 0.999781572845529 0.908335090272854 NA 0.0139080122598396 NA FALSE NA 0 0.169 . splice_region_variant&intron_variant LOW CLNK HGNC 17438 ENST00000226951 16/18 rs574740319 1 NA AAC A,T 8.277e-06 4:10508044 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 splice_region_variant -0.446229 0.15252 0.02077 0.053691 0.467568790195385 0.0937674 1.34591221879556e-20 FALSE NA ENSE00000704071_026 ENSE00000704071 026 4 10509542 10509711 - 41 78 51 A G 10509676 566 36 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCGATGATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10508051 10508052 10508052 upstr_intron -16 -0.294117647058824 TTCATACTTCCCATTGACCCTAAAATATTTATCATCGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 373 1339 0.99453385786445 1 0.997266928932225 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.171315825370606 0.00654785194813723 0.999781572845529 0.908335090272854 NA 0.0889318386593715 NA FALSE NA 0 -0.193 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 16/18 1 NA CAA A,G 8.28e-06 4:10508052 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant -0.078634 0.20627 0.04859 0.053691 0.398017944157071 0.14204 1.34591221879556e-20 FALSE 4.54645e-06 ENSE00000704071_027 ENSE00000704071 027 4 10509542 10509711 - 41 78 51 G T 10509679 567 33 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATTATAAATATTTTAGGGTCAATGGGAAGTATGAA 10507917 10508087 10508054 10508055 10508055 upstr_intron -19 -0.352941176470588 TTCATACTTCCCATTGACCCTAAAATATTTATAATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 770 1162 0.997348297498327 0.996582040459196 0.996965168978762 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.174130265004483 0.0031298924073333 0.999781572845529 0.908335090272854 NA 0.0886300787059081 NA FALSE NA 0 -0.348 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 16/18 1 NA TGA G,T 8.28e-06 4:10508055 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant -0.756938 0.16076 0.02664 0.053691 0.266423781295659 0.0937674 1.34591221879556e-20 FALSE NA ENSE00000704071_028 ENSE00000704071 028 4 10509542 10509711 - 41 78 51 T C 10509685 568 27 TTCATACTTCCCATTGACCCTAAAATGTTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10508060 10508061 10508061 upstr_intron -25 -0.470588235294118 TTCATACTTCCCATTGACCCTAAAATGTTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 1156 1706 0.965305867482904 0.999147779469151 0.982226823476027 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.142087834989059 0.00569563141728846 0.999781572845529 0.908335090272854 NA 0.0738917332031739 NA FALSE NA 0 -1.556 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 16/18 1 NA ATA T,C 3.315e-05 4:10508061 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant 0.038264 0.13892 0.01757 0.053691 0.464744715927278 0.0937674 1.34591221879556e-20 FALSE 1.43048e-05 ENSE00000704071_029 ENSE00000704071 029 4 10509542 10509711 - 41 78 51 T G 10509687 569 25 TTCATACTTCCCATTGACCCTAAACTATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10508062 10508063 10508063 upstr_intron -27 -0.509803921568627 TTCATACTTCCCATTGACCCTAAACTATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 480 107 0.998793470454176 1 0.999396735227088 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.175575437960332 0.00654785194813723 0.999781572845529 0.908335090272854 NA 0.0910616449542346 NA FALSE NA 0.07 1.027 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 16/18 TMP_ESP_4_10509687_10509687 1 NA -:0 -:0.0003 ATT T,G 8.288e-06 4:10508063 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant 0.075572 0.17102 0.09688 0.053691 0.579663777718889 0.0937674 1.34591221879556e-20 FALSE 9.50363e-06 ENSE00000704071_030 ENSE00000704071 030 4 10509542 10509711 - 41 78 51 A G 10509698 570 14 CCTATAGAAACAATAATGATGGGCCACGTAGAAGGCATTACCTTGTTCTCCTTCATGAATGCCTCTTCCACTGCCTGGCGGCTGTATTCTCCAATGTACCATTCATTGTGCTGGACATCCTGCAGAACAGAATCAATGATAAATATTTTAGGGTCAGTGGGAAGTATGAA 10507917 10508087 10508073 10508074 10508074 upstr_intron -38 -0.725490196078431 TTCATACTTCCCACTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 683 851 0.991592205211488 1 0.995796102605744 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.168374172717644 0.00654785194813723 0.999781572845529 0.908335090272854 NA 0.0874610123328906 NA FALSE NA 0 0.818 . intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 16/18 1 NA AAT A,G 8.316e-06 4:10508074 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant 0.202054 0.23159 0.02732 0.053691 0.55213954702853 0.0937674 1.34591221879556e-20 FALSE 5.22264e-06 ENSE00000704071_031 ENSE00000704071 031 4 10509542 10509711 - 41 78 51 T C 10509699 571 13 TTCATACTTCCCGTTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 10508074 10508075 10508075 upstr_intron -39 -0.745098039215686 TTCATACTTCCCGTTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG mutant NA NA NA NA NA 740 1150 0.987646689001984 0.917430504134984 0.952538596568484 0.999563145691059 1 0.823218032493844 0.993452148051863 NA NA 0.16442865650814 -0.0760216439168784 0.999781572845529 0.908335090272854 NA 0.0442035062956307 NA FALSE NA 0 -0.294 rs2868941 intron_variant MODIFIER CLNK HGNC 17438 ENST00000226951 16/18 rs2868941 1 T:0.2185 C:0.8608 C:0.7017 NA C:0.8056 C:0.7356 C:0.7536 C:0.8406 C:0.7299 ATG T,C 0.71 4:10508075 CLNK HGNC Symbol protein_coding 198470 ENSG00000109684 ENSE00000704071 intron_variant -0.045226 0.19558 0.0124 0.053691 0.517314759701624 0.0937674 1.34591221879556e-20 FALSE 0.731567 ENSE00000704071_BRK ENSE00000704071 BRK 4 10509542 10509711 - 41 78 51 A,G; T,T NA NA NA TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCTTGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGCCAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG 10507917 10508087 NA NA NA NA NA NA TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCTTGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGCCAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG TTCATACTTCCCATTGACCCTAAAATATTTATCATTGATTCTGTTCTGCAGGATGTCCAGCACAATGAATGGTACATTGGAGAATACAGCCGCCAGGCAGTGGAAGAGGCATTCATGAAGGAGAACAAGGTAATGCCTTCTACGTGGCCCATCATTATTGTTTCTATAGG control 472 90 0 0.0218444421177599 0.0109222210588799 673 2286 0.0174687200324643 0.000419882808674933 0.00894430142056963 0.999563145691059 1 0.823218032493844 0.993452148051863 -0.999563145691059 -0.97815555788224 -0.80574931246138 -0.993032265243188 0.999781572845529 0.908335090272854 -0.98885935178665 -0.899390788852284 0.0894685629343657 TRUE TRUE NA NA NA NA NA CLNK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLNK NA NA NA ENSG00000109684 ENSE00000704071 NA NA NA NA NA NA NA 1.34591221879556e-20 FALSE NA ENSE00000705858_000 ENSE00000705858 000 9 72961940 72962109 + 42 96 32 NA NA NA NA NA TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTATTCCCATTCTGCATC 70347023 70347193 NA NA NA NA NA NA TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTATTCCCATTCTGCATC TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTATTCCCATTCTGCATC natural NA NA NA NA NA 570 2110 0.99375784057612 0.935595777206405 0.964676808891263 NA NA 0.99375784057612 0.935595777206405 NA NA 0 0 NA 0.964676808891263 NA 0 NA FALSE NA NA NA NA NA NA SMC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMC5 NA NA NA ENSG00000198887 ENSE00003488425 NA NA NA NA NA NA NA 0.980364885210913 TRUE NA ENSE00000705858_009 ENSE00000705858 009 9 72961940 72962109 + 42 96 32 G A 72962021 570 82 TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATACTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTATTCCCATTCTGCATC 70347023 70347193 70347104 70347105 70347105 exon 40 0.416666666666667 TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATACTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTATTCCCATTCTGCATC TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTATTCCCATTCTGCATC mutant NA NA NA NA NA 288 127 1 1 1 NA NA 0.99375784057612 0.935595777206405 NA NA 0.00624215942388007 0.064404222793595 NA 0.964676808891263 NA 0.0353231911087376 NA FALSE NA 1 5.001 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMC5 HGNC 20465 ENST00000471372 2/7 rs565034567 1 NA TGC G,A 1.647e-05 9:70347105 SMC5 HGNC Symbol protein_coding 95926 ENSG00000198887 ENSE00003488425 missense_variant 4.230955 0.98442 0.98435 0.706298 0.998714435139295 0 0.980364885210913 TRUE 2.03252e-05 ENSE00000705858_019 ENSE00000705858 019 9 72961940 72962109 + 42 96 32 T C 72962089 580 150 TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTCCTCTATTCCCATTCTGCATC 70347023 70347193 70347172 70347173 70347173 downstr_intron 12 1.38709677419355 TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTCCTCTATTCCCATTCTGCATC TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTATTCCCATTCTGCATC mutant NA NA NA NA NA 247 11 0.991834383008142 0.8 0.895917191504071 NA NA 0.99375784057612 0.935595777206405 NA NA -0.00192345756797796 -0.135595777206405 NA 0.964676808891263 NA -0.0687596173871914 NA FALSE NA 0.021 0.15 . intron_variant&non_coding_transcript_variant MODIFIER SMC5 HGNC 20465 ENST00000471372 2/6 1 NA TTC T,C 9.061e-05 9:70347173 SMC5 HGNC Symbol protein_coding 95926 ENSG00000198887 ENSE00003488425 intron_variant 0.403914 0.25605 0.13758 0.099367 0.704325806353466 0.308571 0.980364885210913 TRUE 0.000138694 ENSE00000705858_020 ENSE00000705858 020 9 72961940 72962109 + 42 96 32 T C 72962095 581 156 TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTACTCCCATTCTGCATC 70347023 70347193 70347178 70347179 70347179 downstr_intron 18 1.58064516129032 TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTACTCCCATTCTGCATC TGTTTTCATTGTATCTATAATGACGGGCAATTTTTTTCTTAGGTTTTCCAAGACCTTCCAAACACATTGGATGAAATTGATGCTTTATTAACTGAAGAAAGATCAAGAGCTTCCTGCTTCACGGGACTGAATCCTACAGTATGCCTGTTTCTCTATTCCCATTCTGCATC mutant NA NA NA NA NA 202 29 0.998479276597561 1 0.99923963829878 NA NA 0.99375784057612 0.935595777206405 NA NA 0.00472143602144059 0.064404222793595 NA 0.964676808891263 NA 0.0345628294075178 NA FALSE NA 0 -0.888 rs151005009 intron_variant&non_coding_transcript_variant MODIFIER SMC5 HGNC 20465 ENST00000471372 2/6 rs151005009 1 C:0.0056 C:0 C:0 NA C:0.0278 C:0 C:0 C:0.0002 C:0 ATT T,C 0.002002 9:70347179 SMC5 HGNC Symbol protein_coding 95926 ENSG00000198887 ENSE00003488425 intron_variant -1.234251 0.18161 0.05387 0.099367 0.601435346131553 0.169065 0.980364885210913 TRUE 0.00223882 ENSE00000706055_000 ENSE00000706055 000 19 39950476 39950645 + 56 69 45 NA NA NA NA NA CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 NA NA NA NA NA NA CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC natural 54 21 0.992833153502731 0.999162117776843 0.995997635639787 428 1274 0.999903807780958 0.99397522642063 0.996939517100794 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 0 0 0 0 0.995997635639787 0.996939517100794 0 0 0 FALSE FALSE NA NA NA NA NA SUPT5H NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUPT5H NA NA NA ENSG00000196235 ENSE00003552399 NA NA NA NA NA NA NA 0.999999734600741 TRUE NA ENSE00000706055_001 ENSE00000706055 001 19 39950476 39950645 + 56 69 45 C T 39950491 2357 16 CCTGTGTCCTTTCCTTCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459850 39459851 39459851 upstr_intron -41 -0.714285714285714 CCTGTGTCCTTTCCTTCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 485 27 0.99751297846819 0.929276404311391 0.96339469138979 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA -0.00239082931276824 -0.0646988221092385 0.995997635639787 0.996939517100794 NA -0.0335448257110034 NA FALSE NA 0 -0.804 . intron_variant MODIFIER SUPT5H HGNC 11469 ENST00000432763 9/29 1 NA TCC C,T 1.647e-05 19:39459851 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 intron_variant 0.272777 0.22949 0.08581 0.256867 0.601514634831957 0.0857769 0.999999734600741 TRUE 8.12717e-06 ENSE00000706055_002 ENSE00000706055 002 19 39950476 39950645 + 56 69 45 C T 39950500 2358 25 CCTGTGTCCTTTCCTCCATCCTGTTATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459859 39459860 39459860 upstr_intron -32 -0.553571428571429 CCTGTGTCCTTTCCTCCATCCTGTTATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 107 117 0.989550900988248 1 0.994775450494124 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA -0.0103529067927098 0.00602477357937026 0.995997635639787 0.996939517100794 NA -0.00216406660666979 NA FALSE NA 0.04 1.529 . intron_variant MODIFIER SUPT5H HGNC 11469 ENST00000432763 9/29 rs372086931 1 T:0.0012 T:0 T:0 NA T:0 T:0 T:0.0061 TCA C,T 0.0007989 19:39459860 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 intron_variant 0.75776 0.2984 0.33602 0.256867 0.73029357949299 0.698011 0.999999734600741 TRUE 0.000674375 ENSE00000706055_004 ENSE00000706055 004 19 39950476 39950645 + 56 69 45 A G 39950511 2360 36 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAGATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459870 39459871 39459871 upstr_intron -21 -0.357142857142857 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAGATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 49 193 1 1 1 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA 9.61922190421127e-05 0.00602477357937026 0.995997635639787 0.996939517100794 NA 0.00306048289920618 NA FALSE NA 0 -0.456 . intron_variant MODIFIER SUPT5H HGNC 11469 ENST00000432763 9/29 1 NA AAA A,G 8.236e-06 19:39459871 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 intron_variant 0.220946 0.17076 0.10845 0.256867 0.642901784735887 0.155986 0.999999734600741 TRUE 8.1244e-06 ENSE00000706055_006 ENSE00000706055 006 19 39950476 39950645 + 56 69 45 G A 39950552 2362 77 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACAGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459911 39459912 39459912 exon 21 0.304347826086957 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACAGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 67 156 1 0.960530920807944 0.980265460403972 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA 9.61922190421127e-05 -0.0334443056126857 0.995997635639787 0.996939517100794 NA -0.0166740566968218 NA FALSE NA 0.026 -0.755 rs138272578 synonymous_variant LOW SUPT5H HGNC 11469 ENST00000432763 10/30 rs138272578 1 NA A:0.0005 A:0 CGG G,A 3.295e-05 19:39459912 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 synonymous_variant 1.662786 0.64209 0.11139 0.706548 0.884957276749157 0 0.999999734600741 TRUE 2.4374e-05 ENSE00000706055_008 ENSE00000706055 008 19 39950476 39950645 + 56 69 45 C T 39950568 2364 93 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGTGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459927 39459928 39459928 exon -33 0.536231884057971 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGTGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 11 41 1 1 1 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA 9.61922190421127e-05 0.00602477357937026 0.995997635639787 0.996939517100794 NA 0.00306048289920618 NA FALSE NA 1 1.406 rs190306198 missense_variant MODERATE SUPT5H HGNC 11469 ENST00000432763 10/30 rs190306198 1 deleterious(0) probably_damaging(0.999) T:0.0004 T:0 T:0.0014 NA T:0 T:0.001 T:0 GCG C,T 1.647e-05 19:39459928 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 missense_variant 7.755914 0.93361 0.84637 0.706548 0.999402293583539 0 0.999999734600741 TRUE 2.43758e-05 ENSE00000706055_009 ENSE00000706055 009 19 39950476 39950645 + 56 69 45 C T 39950591 2365 116 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTTACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459950 39459951 39459951 exon -10 0.869565217391304 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTTACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 69 22 1 1 1 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA 9.61922190421127e-05 0.00602477357937026 0.995997635639787 0.996939517100794 NA 0.00306048289920618 NA FALSE NA 1 2.397 rs144952178 synonymous_variant LOW SUPT5H HGNC 11469 ENST00000432763 10/30 rs144952178 1 NA T:0 T:0.0001 TCA C,T 8.236e-06 19:39459951 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 synonymous_variant 1.824117 0.96014 0.8901 0.706548 0.845889950228733 0 0.999999734600741 TRUE 4.06345e-06 ENSE00000706055_012 ENSE00000706055 012 19 39950476 39950645 + 56 69 45 C T 39950599 2368 124 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACATGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459958 39459959 39459959 exon -2 0.985507246376812 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACATGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 65 53 1 0.993264335969273 0.996632167984637 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA 9.61922190421127e-05 -0.000710890451356638 0.995997635639787 0.996939517100794 NA -0.000307349116157263 NA FALSE NA 1 7.321 . missense_variant&splice_region_variant MODERATE SUPT5H HGNC 11469 ENST00000432763 10/30 1 deleterious(0.02) possibly_damaging(0.631) NA ACG C,T 6.589e-05 19:39459959 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 missense_variant 7.058982 0.97241 0.98459 0.706548 0.999040916452506 0 0.999999734600741 TRUE 4.87706e-05 ENSE00000706055_013 ENSE00000706055 013 19 39950476 39950645 + 56 69 45 G A 39950600 2369 125 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACAGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459959 39459960 39459960 exon -1 1 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACAGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 40 108 1 1 1 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA 9.61922190421127e-05 0.00602477357937026 0.995997635639787 0.996939517100794 NA 0.00306048289920618 NA FALSE NA 1 0.85 . splice_region_variant&synonymous_variant LOW SUPT5H HGNC 11469 ENST00000432763 10/30 rs570792641 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 2.471e-05 19:39459960 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 splice_region_variant 2.15168 0.90169 0.83187 0.706548 0.862897234552124 0 0.999999734600741 TRUE 6.50332e-05 ENSE00000706055_016 ENSE00000706055 016 19 39950476 39950645 + 56 69 45 G T 39950610 2372 135 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGTTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459969 39459970 39459970 downstr_intron 10 1.22727272727273 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGTTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 217 188 0.996535519441113 1 0.998267759720557 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA -0.00336828833984459 0.00602477357937026 0.995997635639787 0.996939517100794 NA 0.00132824261976283 NA FALSE NA 0 -0.451 . intron_variant MODIFIER SUPT5H HGNC 11469 ENST00000432763 10/29 rs368110725 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0018 T:0 GGT G,T 0.0001071 19:39459970 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 non_coding_transcript_exon_variant 0.266269 0.26137 0.15996 0.115753 0.647715888208272 0.232977 0.999999734600741 TRUE 8.13015e-05 ENSE00000706055_019 ENSE00000706055 019 19 39950476 39950645 + 56 69 45 C T 39950619 2375 144 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGTGGCTTGGTGGGGAGACATGGCAACAC 39459835 39460005 39459978 39459979 39459979 downstr_intron 19 1.43181818181818 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGTGGCTTGGTGGGGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 63 26 1 1 1 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA 9.61922190421127e-05 0.00602477357937026 0.995997635639787 0.996939517100794 NA 0.00306048289920618 NA FALSE NA 0 -2.803 . intron_variant MODIFIER SUPT5H HGNC 11469 ENST00000432763 10/29 1 NA GCG C,T 4.118e-05 19:39459979 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 non_coding_transcript_exon_variant -0.035899 0.11902 0.05843 0.115753 0.677921540214082 0.0476178 0.999999734600741 TRUE 1.62662e-05 ENSE00000706055_021 ENSE00000706055 021 19 39950476 39950645 + 56 69 45 G T 39950630 2377 155 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGTGAGACATGGCAACAC 39459835 39460005 39459989 39459990 39459990 downstr_intron 30 1.68181818181818 CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGTGAGACATGGCAACAC CCTGTGTCCTTTCCTCCATCCTGTCATCTCTCTCAAATCTGCCTCTCATCTTCCAGATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTCATTGCCTACCAGTTCACAGACACGGTAAGTCGGGTAGACAGGCGGCTTGGTGGGGAGACATGGCAACAC mutant NA NA NA NA NA 1436 54 0.995245835984455 1 0.997622917992227 0.992833153502731 0.999162117776843 0.999903807780958 0.99397522642063 NA NA -0.00465797179650296 0.00602477357937026 0.995997635639787 0.996939517100794 NA 0.00068340089143365 NA FALSE NA 0 -1.071 . intron_variant MODIFIER SUPT5H HGNC 11469 ENST00000432763 10/29 1 NA GGG G,T 1.647e-05 19:39459990 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00003552399 non_coding_transcript_exon_variant 1.294536 0.13038 0.05524 0.099367 0.888819403094868 0.0476178 0.999999734600741 TRUE 1.22081e-05 ENSE00000706064_000 ENSE00000706064 000 19 39957075 39957244 + 45 90 35 NA NA NA NA NA TCCCTCCCCCCCAGGCCACAGATTCCCCTGAGTACCAAGCTCATGCGGGCCTTGATGCGATCGTAGTCGATGCGTGGGATCATCTTCAGGGAGATGGTGTTCTGGCTGGGCTCCACGTAGTCCACCTGAGCAGGGCGAGCAGAAGGTCAGCAGGGCCCCACTCTCCTCCC 39466434 39466604 NA NA NA NA NA NA GGGAGGAGAGTGGGGCCCTGCTGACCTTCTGCTCGCCCTGCTCAGGTGGACTACGTGGAGCCCAGCCAGAACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATGAGCTTGGTACTCAGGGGAATCTGTGGCCTGGGGGGGAGGGA GGGAGGAGAGTGGGGCCCTGCTGACCTTCTGCTCGCCCTGCTCAGGTGGACTACGTGGAGCCCAGCCAGAACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATGAGCTTGGTACTCAGGGGAATCTGTGGCCTGGGGGGGAGGGA natural 14 12 0.998661155878315 0.99954180997137 0.999101482924842 18 13 0.970746604041218 0.974859693996709 0.972803149018963 0.998661155878315 0.99954180997137 0.970746604041218 0.974859693996709 0 0 0 0 0.999101482924842 0.972803149018963 0 0 0 FALSE FALSE NA NA NA NA NA SUPT5H NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUPT5H NA NA NA ENSG00000196235 ENSE00000706064 NA NA NA NA NA NA NA 0.999999734600741 TRUE NA ENSE00000706064_029 ENSE00000706064 029 19 39957075 39957244 + 45 90 35 G A 39957220 2406 146 TCCCTCCCCCCCAGGCCACAGATTTCCCTGAGTACCAAGCTCATGCGGGCCTTGATGCGATCGTAGTCGATGCGTGGGATCATCTTCAGGGAGATGGTGTTCTGGCTGGGCTCCACGTAGTCCACCTGAGCAGGGCGAGCAGAAGGTCAGCAGGGCCCCACTCTCCTCCC 39466434 39466604 39466579 39466580 39466580 downstr_intron 11 1.32352941176471 GGGAGGAGAGTGGGGCCCTGCTGACCTTCTGCTCGCCCTGCTCAGGTGGACTACGTGGAGCCCAGCCAGAACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATGAGCTTGGTACTCAGGGAAATCTGTGGCCTGGGGGGGAGGGA GGGAGGAGAGTGGGGCCCTGCTGACCTTCTGCTCGCCCTGCTCAGGTGGACTACGTGGAGCCCAGCCAGAACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATGAGCTTGGTACTCAGGGGAATCTGTGGCCTGGGGGGGAGGGA mutant NA NA NA NA NA 18 31 1 0.988227130482024 0.994113565241012 0.998661155878315 0.99954180997137 0.970746604041218 0.974859693996709 NA NA 0.0292533959587817 0.0133674364853154 0.999101482924842 0.972803149018963 NA 0.0213104162220485 NA FALSE NA 0 -0.346 . intron_variant MODIFIER SUPT5H HGNC 11469 ENST00000432763 12/29 1 NA GGA G,A 3.295e-05 19:39466580 SUPT5H HGNC Symbol protein_coding 40514 ENSG00000196235 ENSE00000706064 intron_variant 0.26622 0.21373 0.16996 0.156188 0.487445520595008 0.168707 0.999999734600741 TRUE 3.24881e-05 ENSE00000706064_BRK ENSE00000706064 BRK 19 39957075 39957244 + 45 90 35 A,G; T,T NA NA NA TCCCTCCCCCCCAGGCCACAGATTCCCCTGAGTGGCAAGCTCATGCGGGCCTTGATGCGATCGTAGTCGATGCGTGGGATCATCTTCAGGGAGATGGTGTTCTGGCTGGGCTCCACGTAGTCCACAAGAGCAGGGCGAGCAGAAGGTCAGCAGGGCCCCACTCTCCTCCC 39466434 39466604 NA NA NA NA NA NA GGGAGGAGAGTGGGGCCCTGCTGACCTTCTGCTCGCCCTGCTCTTGTGGACTACGTGGAGCCCAGCCAGAACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATGAGCTTGCCACTCAGGGGAATCTGTGGCCTGGGGGGGAGGGA GGGAGGAGAGTGGGGCCCTGCTGACCTTCTGCTCGCCCTGCTCAGGTGGACTACGTGGAGCCCAGCCAGAACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATGAGCTTGGTACTCAGGGGAATCTGTGGCCTGGGGGGGAGGGA control 26 29 0 0 0 NA NA NA NA NA 0.998661155878315 0.99954180997137 0.970746604041218 0.974859693996709 -0.998661155878315 -0.99954180997137 NA NA 0.999101482924842 0.972803149018963 -0.999101482924842 NA NA NA TRUE NA NA NA NA NA SUPT5H NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUPT5H NA NA NA ENSG00000196235 ENSE00000706064 NA NA NA NA NA NA NA 0.999999734600741 TRUE NA ENSE00000706991_000 ENSE00000706991 000 17 27005518 27005687 + 45 90 35 NA NA NA NA NA CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC 28678499 28678669 NA NA NA NA NA NA CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC natural 16 26 0.990255739766154 0.996382030680778 0.993318885223466 694 334 0.997118401922533 0.986505065770298 0.991811733846415 0.990255739766154 0.996382030680778 0.997118401922533 0.986505065770298 0 0 0 0 0.993318885223466 0.991811733846415 0 0 0 FALSE FALSE NA NA NA NA NA SUPT6H NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUPT6H NA NA NA ENSG00000109111 ENSE00000706991 NA NA NA NA NA NA NA 0.999999999889474 TRUE NA ENSE00000706991_005 ENSE00000706991 005 17 27005518 27005687 + 45 90 35 G A 27005563 1145 46 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGATGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC 28678499 28678669 28678544 28678545 28678545 exon 1 0.0111111111111111 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGATGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC mutant NA NA NA NA NA 271 208 0.997699616140284 1 0.998849808070142 0.990255739766154 0.996382030680778 0.997118401922533 0.986505065770298 NA NA 0.000581214217751702 0.0134949342297023 0.993318885223466 0.991811733846415 NA 0.00703807422372699 NA FALSE NA 1 9.285 . upstream_gene_variant MODIFIER SUPT6H HGNC 11470 ENST00000577939 1 NA GGT G,A 8.236e-06 17:28678545 SUPT6H HGNC Symbol protein_coding 40593 ENSG00000109111 ENSE00000706991 missense_variant 6.77304 0.99446 0.99411 0.706548 0.998881257948938 0 0.999999999889474 TRUE 8.12414e-06 ENSE00000706991_007 ENSE00000706991 007 17 27005518 27005687 + 45 90 35 C T 27005576 1147 59 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGTCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC 28678499 28678669 28678557 28678558 28678558 exon 14 0.155555555555556 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGTCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC mutant NA NA NA NA NA 305 68 1 1 1 0.990255739766154 0.996382030680778 0.997118401922533 0.986505065770298 NA NA 0.00288159807746735 0.0134949342297023 0.993318885223466 0.991811733846415 NA 0.00818826615358481 NA FALSE NA 1 7.34 . upstream_gene_variant MODIFIER SUPT6H HGNC 11470 ENST00000577939 1 NA GCC C,T 8.236e-06 17:28678558 SUPT6H HGNC Symbol protein_coding 40593 ENSG00000109111 ENSE00000706991 missense_variant 7.388663 0.99432 0.98914 0.706548 0.999212220109411 0 0.999999999889474 TRUE 4.06184e-06 ENSE00000706991_011 ENSE00000706991 011 17 27005518 27005687 + 45 90 35 G A 27005601 1151 84 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAACCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC 28678499 28678669 28678582 28678583 28678583 exon 39 0.433333333333333 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAACCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC mutant NA NA NA NA NA 313 52 1 1 1 0.990255739766154 0.996382030680778 0.997118401922533 0.986505065770298 NA NA 0.00288159807746735 0.0134949342297023 0.993318885223466 0.991811733846415 NA 0.00818826615358481 NA FALSE NA 0.984 0.128 NA NA NA SUPT6H NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:28678583 SUPT6H HGNC Symbol protein_coding 40593 ENSG00000109111 ENSE00000706991 synonymous_variant 1.346588 0.89788 0.81598 0.706548 0.498173524399133 0 0.999999999889474 TRUE 4.06121e-06 ENSE00000706991_016 ENSE00000706991 016 17 27005518 27005687 + 45 90 35 A T 27005639 1156 122 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCTGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC 28678499 28678669 28678620 28678621 28678621 exon -14 0.855555555555556 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCTGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC mutant NA NA NA NA NA 34 36 1 1 1 0.990255739766154 0.996382030680778 0.997118401922533 0.986505065770298 NA NA 0.00288159807746735 0.0134949342297023 0.993318885223466 0.991811733846415 NA 0.00818826615358481 NA FALSE NA 1 8.782 . upstream_gene_variant MODIFIER SUPT6H HGNC 11470 ENST00000577939 rs561497186 1 NA CAG A,T 9.884e-05 17:28678621 SUPT6H HGNC Symbol protein_coding 40593 ENSG00000109111 ENSE00000706991 missense_variant 3.628464 0.99258 0.99284 0.706548 0.993066607488936 0 0.999999999889474 TRUE 0.00021119 ENSE00000706991_018 ENSE00000706991 018 17 27005518 27005687 + 45 90 35 G C 27005642 1158 125 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTCGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC 28678499 28678669 28678623 28678624 28678624 exon -11 0.888888888888889 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTCGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC mutant NA NA NA NA NA 208 174 1 1 1 0.990255739766154 0.996382030680778 0.997118401922533 0.986505065770298 NA NA 0.00288159807746735 0.0134949342297023 0.993318885223466 0.991811733846415 NA 0.00818826615358481 NA FALSE NA 1 9.285 . upstream_gene_variant MODIFIER SUPT6H HGNC 11470 ENST00000577939 1 NA TGG G,C 8.236e-06 17:28678624 SUPT6H HGNC Symbol protein_coding 40593 ENSG00000109111 ENSE00000706991 missense_variant 7.097577 0.99468 0.99529 0.706548 0.988400375225486 0 0.999999999889474 TRUE 1.21848e-05 ENSE00000706991_021 ENSE00000706991 021 17 27005518 27005687 + 45 90 35 T A 27005663 1161 146 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGAACCGTGGCCCCCAAGAGGTGTGGGC 28678499 28678669 28678644 28678645 28678645 downstr_intron 11 1.32352941176471 CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGAACCGTGGCCCCCAAGAGGTGTGGGC CAAATCTGTCTTCTCTGAGTGACTGCAGTCTCTTTGCCATCCTAGGTGCCTTTTATTGCCTTCTATCGAAAGGAGTATGTGGAGCCTGAGTTGCACATCAATGACCTATGGAGAGTCTGGCAGTGGGATGAAAAGGTAATGTAGATCCGTGGCCCCCAAGAGGTGTGGGC mutant NA NA NA NA NA 168 159 1 1 1 0.990255739766154 0.996382030680778 0.997118401922533 0.986505065770298 NA NA 0.00288159807746735 0.0134949342297023 0.993318885223466 0.991811733846415 NA 0.00818826615358481 NA FALSE NA 0 -0.608 . upstream_gene_variant MODIFIER SUPT6H HGNC 11470 ENST00000577939 1 NA ATC T,A 8.236e-06 17:28678645 SUPT6H HGNC Symbol protein_coding 40593 ENSG00000109111 ENSE00000706991 intron_variant 0.296699 0.17901 0.08036 0.099367 0.508363440006 0.0476178 0.999999999889474 TRUE 4.0623e-06 ENSE00000707529_000 ENSE00000707529 000 7 98496994 98497163 + 51 78 41 NA NA NA NA NA ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 NA NA NA NA NA NA ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT natural 49 138 0.788924961293366 0.710646509469791 0.749785735381579 4013 5468 0.874308119377192 0.960388914648488 0.91734851701284 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 0 0 0 0 0.749785735381579 0.91734851701284 0 0 0 FALSE FALSE NA NA NA NA NA TRRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRRAP NA NA NA ENSG00000196367 ENSE00002451058 NA NA NA NA NA NA NA 1 TRUE NA ENSE00000707529_002 ENSE00000707529 002 7 98496994 98497163 + 51 78 41 A G 98497009 1993 16 ATTTTAAATGCCACAGTGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899385 98899386 98899386 upstr_intron -36 -0.686274509803922 ATTTTAAATGCCACAGTGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 109 447 0.950556229087448 0.922646267162791 0.936601248125119 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.0762481097102561 -0.0377426474856974 0.749785735381579 0.91734851701284 NA 0.0192527311122793 NA FALSE NA 0 -0.381 . intron_variant MODIFIER TRRAP HGNC 12347 ENST00000355540 8/70 1 NA AAT A,G 3.295e-05 7:98899386 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 intron_variant 0.21415 0.09545 0.00198 0.156188 0.455852625579304 0.046323 1 TRUE 4.06898e-05 ENSE00000707529_003 ENSE00000707529 003 7 98496994 98497163 + 51 78 41 T A 98497010 1994 17 ATTTTAAATGCCACAAAGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899386 98899387 98899387 upstr_intron -35 -0.666666666666667 ATTTTAAATGCCACAAAGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 1826 1321 0.977184413678809 0.811260387018 0.894222400348405 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.102876294301617 -0.149128527630488 0.749785735381579 0.91734851701284 NA -0.0231261166644355 NA FALSE NA 0 -0.347 . intron_variant MODIFIER TRRAP HGNC 12347 ENST00000355540 8/70 1 NA ATG T,A 8.237e-06 7:98899387 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 intron_variant 0.379013 0.17275 0.03769 0.156188 0.70242879775727 0.046323 1 TRUE 4.06848e-06 ENSE00000707529_004 ENSE00000707529 004 7 98496994 98497163 + 51 78 41 C T 98497018 1995 25 ATTTTAAATGCCACAATGGTAACCTGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899394 98899395 98899395 upstr_intron -27 -0.509803921568627 ATTTTAAATGCCACAATGGTAACCTGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 31 132 1 0.999421289637796 0.999710644818898 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.125691880622808 0.0390323749893081 0.749785735381579 0.91734851701284 NA 0.0823621278060581 NA FALSE NA 0 -3.385 rs190527135 intron_variant MODIFIER TRRAP HGNC 12347 ENST00000355540 8/70 1 NA CCG C,T 3.295e-05 7:98899395 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 intron_variant -0.838227 0.05973 0.00412 0.156188 0.694873817279334 0.0455939 1 TRUE 2.03283e-05 ENSE00000707529_005 ENSE00000707529 005 7 98496994 98497163 + 51 78 41 G A 98497019 1996 26 ATTTTAAATGCCACAATGGTAACCCAGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899395 98899396 98899396 upstr_intron -26 -0.490196078431373 ATTTTAAATGCCACAATGGTAACCCAGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 19 1410 0.953161521502652 0.984349052353151 0.968755286927901 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.0788534021254598 0.0239601377046625 0.749785735381579 0.91734851701284 NA 0.0514067699150612 NA FALSE NA 0 -5.235 . intron_variant MODIFIER TRRAP HGNC 12347 ENST00000355540 8/70 1 NA CGG G,A 8.237e-06 7:98899396 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 intron_variant -0.703473 0.07522 0.01301 0.156188 0.693278790497913 0.0778016 1 TRUE 8.12757e-06 ENSE00000707529_006 ENSE00000707529 006 7 98496994 98497163 + 51 78 41 G C 98497020 1997 27 ATTTTAAATGCCACAATGGTAACCCGCGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899396 98899397 98899397 upstr_intron -25 -0.470588235294118 ATTTTAAATGCCACAATGGTAACCCGCGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 823 254 0.997074687702073 1 0.998537343851036 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.122766568324881 0.0396110853515118 0.749785735381579 0.91734851701284 NA 0.0811888268381962 NA FALSE NA 0 -1.673 . intron_variant MODIFIER TRRAP HGNC 12347 ENST00000355540 8/70 rs376142086 1 NA C:0.0002 C:0 GGG G,C 6.589e-05 7:98899397 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 intron_variant -0.255235 0.1588 0.05447 0.156188 0.393192111357923 0.0792488 1 TRUE 4.46926e-05 ENSE00000707529_007 ENSE00000707529 007 7 98496994 98497163 + 51 78 41 G A 98497021 1998 28 ATTTTAAATGCCACAATGGTAACCCGGATCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899397 98899398 98899398 upstr_intron -24 -0.450980392156863 ATTTTAAATGCCACAATGGTAACCCGGATCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 813 2403 0.998317489317015 0.991723609868045 0.99502054959253 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.124009369939823 0.0313346952195566 0.749785735381579 0.91734851701284 NA 0.0776720325796897 NA FALSE NA 0 0.497 . intron_variant MODIFIER TRRAP HGNC 12347 ENST00000355540 8/70 1 NA GGT G,A 8.236e-06 7:98899398 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 intron_variant -0.214541 0.15624 0.10185 0.156188 0.555604036208442 0.0455939 1 TRUE 2.03136e-05 ENSE00000707529_008 ENSE00000707529 008 7 98496994 98497163 + 51 78 41 A G 98497026 1999 33 ATTTTAAATGCCACAATGGTAACCCGGGTCCTGCCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899402 98899403 98899403 upstr_intron -19 -0.352941176470588 ATTTTAAATGCCACAATGGTAACCCGGGTCCTGCCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 1073 1523 0.917575788071395 0.862805413512712 0.890190600792053 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.0432676686942032 -0.0975835011357766 0.749785735381579 0.91734851701284 NA -0.0271579162207867 NA FALSE NA 0 -1.124 . intron_variant MODIFIER TRRAP HGNC 12347 ENST00000355540 8/70 1 NA TAC A,G 8.236e-06 7:98899403 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 intron_variant -0.010541 0.10514 0.01442 0.156188 0.440820254335676 0.0455939 1 TRUE 4.062e-06 ENSE00000707529_009 ENSE00000707529 009 7 98496994 98497163 + 51 78 41 C T 98497042 2000 49 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCTAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899418 98899419 98899419 upstr_intron -3 -0.0392156862745098 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCTAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 445 122 0.80058618837793 0.806179184667663 0.803382686522797 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA -0.0737219309992616 -0.154209729980825 0.749785735381579 0.91734851701284 NA -0.113965830490043 NA FALSE NA 0.101 0.644 rs113339948 splice_region_variant&intron_variant LOW TRRAP HGNC 12347 ENST00000355540 8/70 1 NA CCA C,T 0.0001153 7:98899419 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 splice_region_variant 1.044098 0.94684 0.5635 0.156188 0.731809119277333 0.40854 1 TRUE 0.000178705 ENSE00000707529_010 ENSE00000707529 010 7 98496994 98497163 + 51 78 41 C A 98497045 2001 52 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGAATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899421 98899422 98899422 exon 1 0.0128205128205128 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGAATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 440 516 0.99981278920854 0.870646424605516 0.935229606907028 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.125504669831348 -0.0897424900429726 0.749785735381579 0.91734851701284 NA 0.0178810898941877 NA FALSE NA 1 7.692 . missense_variant&splice_region_variant MODERATE TRRAP HGNC 12347 ENST00000355540 9/71 1 benign(0.216) NA GCA C,A 8.236e-06 7:98899422 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 missense_variant 3.230305 0.99512 0.99801 0.706548 0.982549519970315 0 1 TRUE NA ENSE00000707529_011 ENSE00000707529 011 7 98496994 98497163 + 51 78 41 G A 98497059 2002 66 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCAAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899435 98899436 98899436 exon 15 0.192307692307692 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCAAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 323 2078 0.92116532098357 0.880737098702557 0.900951209843064 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.046857201606378 -0.0796518159459308 0.749785735381579 0.91734851701284 NA -0.0163973071697764 NA FALSE NA 0 -3.499 . synonymous_variant LOW TRRAP HGNC 12347 ENST00000355540 9/71 COSM351684&COSM351685 1 NA CGA G,A 8.236e-06 7:98899436 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 synonymous_variant 1.22994 0.28152 0.04317 0.706548 0.711929959745833 0 1 TRUE 1.62438e-05 ENSE00000707529_012 ENSE00000707529 012 7 98496994 98497163 + 51 78 41 G A 98497095 2003 102 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTACCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 98899471 98899472 98899472 exon -28 0.653846153846154 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTACCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 126 74 0.889591944212229 0.996316823384891 0.94295438379856 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.0152838248350371 0.0359279087364031 0.749785735381579 0.91734851701284 NA 0.0256058667857201 NA FALSE NA 1 2.038 . synonymous_variant LOW TRRAP HGNC 12347 ENST00000355540 9/71 1 NA TGC G,A 3.295e-05 7:98899472 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 synonymous_variant 1.074543 0.97787 0.93004 0.706548 0.755530882396803 0 1 TRUE 1.62437e-05 ENSE00000707529_013 ENSE00000707529 013 7 98496994 98497163 + 51 78 41 T C 98497148 2004 155 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTCGGGTTTTGGGCTTCT 98899370 98899540 98899524 98899525 98899525 downstr_intron 26 1.65 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTCGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 161 59 0.983299640435856 0.951107524873197 0.967203582654526 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.108991521058664 -0.00928138977529125 0.749785735381579 0.91734851701284 NA 0.0498550656416862 NA FALSE NA 0 -0.121 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:98899525 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002451058 intron_variant 0.345604 0.20668 0.16164 0.062308 0.754556422634031 0.175631 1 TRUE 1.6255e-05 ENSE00000707529_014 ENSE00000707529 014 7 98496994 98497163 + 51 78 41 T G 98497148 2005 155 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTGGGGTTTTGGGCTTCT 98899370 98899540 98899524 98899525 98899525 downstr_intron 26 1.65 ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTGGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT mutant NA NA NA NA NA 1407 231 0.990141342780387 0.988330236975945 0.989235789878166 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA 0.115833223403195 0.0279413223274567 0.749785735381579 0.91734851701284 NA 0.0718872728653257 NA FALSE NA 0 -0.121 NA NA NA TRRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRRAP NA NA NA ENSG00000196367 ENSE00002451058 intron_variant 0.447559 0.25311 0.24977 0.062308 0.728149997169222 0.175631 1 TRUE 4.06375e-06 ENSE00000707529_BRK ENSE00000707529 BRK 7 98496994 98497163 + 51 78 41 A,G; T,T NA NA NA ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCTTCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGCCATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT 98899370 98899540 NA NA NA NA NA NA ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCTTCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGCCATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT ATTTTAAATGCCACAATGGTAACCCGGGTCCTACCCATTTCTGTCTTCCAGCATTCCATCATTCCGAGGGGATCACTTTCTCTGAAAGTGTTGGCAGAATTGCCCATTATTGTTGTTTTAATGTATCAGGTATGTGTATTGCTCATTAGTCTCTTGGGTTTTGGGCTTCT control NA NA NA NA NA 37 262 0 0.00368601077234921 0.0018430053861746 0.788924961293366 0.710646509469791 0.874308119377192 0.960388914648488 NA NA -0.874308119377192 -0.956702903876139 0.749785735381579 0.91734851701284 NA -0.915505511626665 NA TRUE NA NA NA NA NA NA TRRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRRAP NA NA NA ENSG00000196367 ENSE00002451058 NA NA NA NA NA NA NA 1 TRUE NA ENSE00000707642_000 ENSE00000707642 000 10 71255308 71255477 + 42 96 32 NA NA NA NA NA AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 NA NA NA NA NA NA AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC natural 45 14 0.969211647766903 1 0.984605823883452 1630 1549 0.902985371904914 0.99481985028748 0.948902611096197 0.969211647766903 1 0.902985371904914 0.99481985028748 0 0 0 0 0.984605823883452 0.948902611096197 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN15 NA NA NA ENSG00000099282 ENSE00003679864 NA NA NA NA NA NA NA 0.00185580828692184 FALSE NA ENSE00000707642_001 ENSE00000707642 001 10 71255308 71255477 + 42 96 32 A G 71255353 1200 46 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCGTTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495596 69495597 69495597 exon 4 0.0416666666666667 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCGTTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 366 2696 0.988873535057706 0.999771686357769 0.994322610707738 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.0858881631527922 0.00495183607028915 0.984605823883452 0.948902611096197 NA 0.0454199996115407 NA FALSE NA 1 2.509 . missense_variant MODERATE TSPAN15 HGNC 23298 ENST00000452130 3/7 1 tolerated(0.37) benign(0.047) NA CAT A,G 2.471e-05 10:69495597 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 missense_variant 1.40457 0.98029 0.88855 0.732398 0.97811837079847 0 0.00185580828692184 FALSE 1.21833e-05 ENSE00000707642_002 ENSE00000707642 002 10 71255308 71255477 + 42 96 32 T C 71255354 1201 47 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCACTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495597 69495598 69495598 exon 5 0.0520833333333333 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCACTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 215 232 1 1 1 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.097014628095086 0.00518014971251979 0.984605823883452 0.948902611096197 NA 0.0510973889038029 NA FALSE NA 1 3.013 . missense_variant MODERATE TSPAN15 HGNC 23298 ENST00000452130 3/7 1 tolerated(0.57) benign(0.192) NA ATT T,C 8.236e-06 10:69495598 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 missense_variant 0.951103 0.98011 0.92769 0.732398 0.896187843798683 0 0.00185580828692184 FALSE 8.12229e-06 ENSE00000707642_004 ENSE00000707642 004 10 71255308 71255477 + 42 96 32 G A 71255368 1203 61 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACAACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495611 69495612 69495612 exon 19 0.197916666666667 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACAACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 12 67 0.95 1 0.975 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.0470146280950859 0.00518014971251979 0.984605823883452 0.948902611096197 NA 0.0260973889038029 NA FALSE NA 1 3.774 . missense_variant MODERATE TSPAN15 HGNC 23298 ENST00000452130 3/7 1 tolerated(0.1) benign(0.03) NA CGA G,A 6.589e-05 10:69495612 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 missense_variant 3.559608 0.98399 0.89766 0.732398 0.995515085237031 0 0.00185580828692184 FALSE 4.06095e-05 ENSE00000707642_005 ENSE00000707642 005 10 71255308 71255477 + 42 96 32 A G 71255372 1204 65 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAGCATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495615 69495616 69495616 exon 23 0.239583333333333 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAGCATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 784 297 1 1 1 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.097014628095086 0.00518014971251979 0.984605823883452 0.948902611096197 NA 0.0510973889038029 NA FALSE NA 1 5.749 . missense_variant MODERATE TSPAN15 HGNC 23298 ENST00000452130 3/7 1 tolerated(0.17) benign(0.016) NA AAC A,G 8.236e-06 10:69495616 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 missense_variant 1.378258 0.98886 0.98161 0.732398 0.854073940529126 0 0.00185580828692184 FALSE 4.06075e-06 ENSE00000707642_007 ENSE00000707642 007 10 71255308 71255477 + 42 96 32 G A 71255378 1206 71 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCAAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495621 69495622 69495622 exon 29 0.302083333333333 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCAAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant 44 29 0.786291117202016 0.922751999484924 0.85452155834347 14 108 1 0.99705987451014 0.99852993725507 0.969211647766903 1 0.902985371904914 0.99481985028748 -0.182920530564887 -0.0772480005150759 0.097014628095086 0.00224002422265934 0.984605823883452 0.948902611096197 -0.130084265539981 0.0496273261588727 0.179711591698854 FALSE FALSE 1 9.263 rs143260694 missense_variant MODERATE TSPAN15 HGNC 23298 ENST00000452130 3/7 rs143260694&COSM919928 1 tolerated(0.31) possibly_damaging(0.737) NA A:0.0005 A:0 CGA G,A 1.647e-05 10:69495622 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 missense_variant 5.934841 0.99622 0.99733 0.732398 0.999499997031741 0 0.00185580828692184 FALSE 8.12156e-06 ENSE00000707642_008 ENSE00000707642 008 10 71255308 71255477 + 42 96 32 C T 71255397 1207 90 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTATTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495640 69495641 69495641 exon 48 0.5 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTATTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 276 101 1 1 1 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.097014628095086 0.00518014971251979 0.984605823883452 0.948902611096197 NA 0.0510973889038029 NA FALSE NA 1 1.848 . synonymous_variant LOW TSPAN15 HGNC 23298 ENST00000452130 3/7 1 NA ACT C,T 9.06e-05 10:69495641 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 synonymous_variant 1.08698 0.98276 0.87353 0.732398 0.548617717186206 0 0.00185580828692184 FALSE 0.000129948 ENSE00000707642_009 ENSE00000707642 009 10 71255308 71255477 + 42 96 32 A G 71255399 1208 92 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTGTGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495642 69495643 69495643 exon -47 0.520833333333333 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTGTGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant 16 20 0.971540520616084 0.995974656268179 0.983757588442132 NA NA NA NA NA 0.969211647766903 1 0.902985371904914 0.99481985028748 0.00232887284918104 -0.00402534373182084 NA NA 0.984605823883452 0.948902611096197 -0.0008482354413199 NA NA NA FALSE 1 8.716 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69495643 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 missense_variant 6.170137 0.99284 0.98871 0.732398 0.998401158793246 0 0.00185580828692184 FALSE 3.24863e-05 ENSE00000707642_010 ENSE00000707642 010 10 71255308 71255477 + 42 96 32 A C 71255399 1209 92 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTCTGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495642 69495643 69495643 exon -47 0.520833333333333 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTCTGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 200 599 1 0.999735881731118 0.999867940865559 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.097014628095086 0.0049160314436375 0.984605823883452 0.948902611096197 NA 0.0509653297693617 NA FALSE NA 1 8.716 NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN15 NA NA NA ENSG00000099282 ENSE00003679864 missense_variant 5.334391 0.99294 0.98941 0.732398 0.986701189334279 0 0.00185580828692184 FALSE 4.06078e-06 ENSE00000707642_013 ENSE00000707642 013 10 71255308 71255477 + 42 96 32 C T 71255407 1212 100 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATTTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495650 69495651 69495651 exon -39 0.604166666666667 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATTTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 75 909 1 0.998563706384108 0.999281853192054 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.097014628095086 0.00374385609662786 0.984605823883452 0.948902611096197 NA 0.0503792420958569 NA FALSE NA 1 2.919 . synonymous_variant LOW TSPAN15 HGNC 23298 ENST00000452130 3/7 1 NA TCT C,T 1.647e-05 10:69495651 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 synonymous_variant 1.470872 0.98238 0.90006 0.706298 0.769327222792457 0 0.00185580828692184 FALSE 8.12196e-06 ENSE00000707642_015 ENSE00000707642 015 10 71255308 71255477 + 42 96 32 C A 71255451 1214 144 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGACAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495694 69495695 69495695 downstr_intron 6 1.19354838709677 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGACAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 900 296 0.994299965027279 1 0.997149982513639 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.0913145931223647 0.00518014971251979 0.984605823883452 0.948902611096197 NA 0.0482473714174422 NA FALSE NA 0.002 -0.087 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69495695 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 splice_region_variant 1.081044 0.92039 0.03945 0.099367 0.776362047698631 0.386332 0.00185580828692184 FALSE 1.21909e-05 ENSE00000707642_016 ENSE00000707642 016 10 71255308 71255477 + 42 96 32 C T 71255451 1215 144 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGTCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495694 69495695 69495695 downstr_intron 6 1.19354838709677 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGTCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 1330 138 0.988729678040271 0.995461954971419 0.992095816505845 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.0857443061353571 0.000642104683938549 0.984605823883452 0.948902611096197 NA 0.0431932054096478 NA FALSE NA 0.002 -0.087 NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN15 NA NA NA ENSG00000099282 ENSE00003679864 splice_region_variant 0.838012 0.91703 0.03498 0.099367 0.757487927236923 0.386332 0.00185580828692184 FALSE NA ENSE00000707642_017 ENSE00000707642 017 10 71255308 71255477 + 42 96 32 C T 71255456 1216 149 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGTGCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495699 69495700 69495700 downstr_intron 11 1.35483870967742 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGTGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 192 14 0.988377059447065 1 0.994188529723532 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.0853916875421505 0.00518014971251979 0.984605823883452 0.948902611096197 NA 0.0452859186273352 NA FALSE NA 0 -5.747 . intron_variant MODIFIER TSPAN15 HGNC 23298 ENST00000452130 3/6 rs367726438 1 NA T:0.0009 T:0 GCG C,T 4.942e-05 10:69495700 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 intron_variant -0.497437 0.09769 0.00062 0.062308 0.525315210469551 0.0708573 0.00185580828692184 FALSE 5.69291e-05 ENSE00000707642_018 ENSE00000707642 018 10 71255308 71255477 + 42 96 32 G C 71255457 1217 150 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCCCTTTGGGGTAGAGATGCGCC 69495551 69495721 69495700 69495701 69495701 downstr_intron 12 1.38709677419355 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCCCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 902 2492 0.997882165660786 0.998410069635049 0.998146117647917 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.0948967937558717 0.00359021934756898 0.984605823883452 0.948902611096197 NA 0.0492435065517203 NA FALSE NA 0.001 0.375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69495701 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 intron_variant -0.406219 0.26198 0.07754 0.062308 0.379414756905003 0.0708573 0.00185580828692184 FALSE 8.13385e-05 ENSE00000707642_019 ENSE00000707642 019 10 71255308 71255477 + 42 96 32 G A 71255457 1218 150 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCACTTTGGGGTAGAGATGCGCC 69495551 69495721 69495700 69495701 69495701 downstr_intron 12 1.38709677419355 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCACTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 243 36 0.999830521659959 1 0.99991526082998 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.0968451497550453 0.00518014971251979 0.984605823883452 0.948902611096197 NA 0.0510126497337826 NA FALSE NA 0.001 0.375 NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN15 NA NA NA ENSG00000099282 ENSE00003679864 intron_variant -0.05235 0.25278 0.06761 0.062308 0.422663971366679 0.0708573 0.00185580828692184 FALSE 2.44016e-05 ENSE00000707642_020 ENSE00000707642 020 10 71255308 71255477 + 42 96 32 G A 71255465 1219 158 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGATAGAGATGCGCC 69495551 69495721 69495708 69495709 69495709 downstr_intron 20 1.64516129032258 AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGATAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC mutant NA NA NA NA NA 132 69 1 1 1 0.969211647766903 1 0.902985371904914 0.99481985028748 NA NA 0.097014628095086 0.00518014971251979 0.984605823883452 0.948902611096197 NA 0.0510973889038029 NA FALSE NA 0.034 -0.055 . intron_variant MODIFIER TSPAN15 HGNC 23298 ENST00000452130 3/6 1 NA GGT G,A 1.647e-05 10:69495709 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003679864 intron_variant -0.148262 0.14754 0.02916 0.062308 0.516019125863327 0.0708573 0.00185580828692184 FALSE 1.22217e-05 ENSE00000707642_BRK ENSE00000707642 BRK 10 71255308 71255477 + 42 96 32 A,G; T,T NA NA NA AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATTTACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGCCGAGCCAGGCGCTTTGGGGTAGAGATGCGCC 69495551 69495721 NA NA NA NA NA NA AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATTTACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGCCGAGCCAGGCGCTTTGGGGTAGAGATGCGCC AGTGTGTGGTTCTTTTCCTTTGTAATTTCTCCTTTTGAATAGACCATTGACTTCCTGAACGACAACATTCGAAGAGGAATTGAGAACTACTATGATGATCTGGACTTCAAAAACATCATGGACTTTGTTCAGAAAAAGGTGAGCCAGGCGCTTTGGGGTAGAGATGCGCC control 41 26 0 0 0 2952 58 0.00694533500798557 0.0170661054305703 0.0120057202192779 0.969211647766903 1 0.902985371904914 0.99481985028748 -0.969211647766903 -1 -0.896040036896928 -0.97775374485691 0.984605823883452 0.948902611096197 -0.984605823883452 -0.936896890876919 0.0477089330065325 TRUE TRUE NA NA NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN15 NA NA NA ENSG00000099282 ENSE00003679864 NA NA NA NA NA NA NA 0.00185580828692184 FALSE NA ENSE00000707650_000 ENSE00000707650 000 10 71244844 71245013 + 53 75 42 NA NA NA NA NA CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 NA NA NA NA NA NA CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC natural 30 37 0.938913526262755 0.950921263732804 0.944917394997779 900 759 0.688794765775139 0.563961299178503 0.626378032476821 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 0 0 0 0 0.944917394997779 0.626378032476821 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN15 NA NA NA ENSG00000099282 ENSE00003500682 NA NA NA NA NA NA NA 0.00185580828692184 FALSE NA ENSE00000707650_001 ENSE00000707650 001 10 71244844 71245013 + 53 75 42 A T 71244856 1166 13 CCACACACGCCCTCTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485099 69485100 69485100 upstr_intron -41 -0.754716981132076 CCACACACGCCCTCTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant NA NA NA NA NA 75 22 0.848314884947919 1 0.924157442473959 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 NA NA 0.15952011917278 0.436038700821497 0.944917394997779 0.626378032476821 NA 0.297779409997138 NA FALSE NA 0 -0.172 . intron_variant MODIFIER TSPAN15 HGNC 23298 ENST00000452130 1/6 1 NA CAC A,T 2.471e-05 10:69485100 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 intron_variant 0.05764 0.15117 0.00148 0.035109 0.78556539998423 0.108761 0.00185580828692184 FALSE 2.43746e-05 ENSE00000707650_003 ENSE00000707650 003 10 71244844 71245013 + 53 75 42 T C 71244861 1168 18 CCACACACGCCCACTGCCCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485104 69485105 69485105 upstr_intron -36 -0.660377358490566 CCACACACGCCCACTGCCCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 30 15 0 0 0 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.938913526262755 -0.950921263732804 NA NA 0.944917394997779 0.626378032476821 -0.944917394997779 NA NA NA TRUE 0 0.003 . intron_variant MODIFIER TSPAN15 HGNC 23298 ENST00000452130 1/6 rs567737663 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTC T,C 8.236e-06 10:69485105 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 intron_variant -0.020271 0.1345 0.00121 0.035109 0.525424412165821 0.0635106 0.00185580828692184 FALSE 4.06187e-06 ENSE00000707650_005 ENSE00000707650 005 10 71244844 71245013 + 53 75 42 T C 71244872 1170 29 CCACACACGCCCACTGCTCCTCTCCAGGCGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485115 69485116 69485116 upstr_intron -25 -0.452830188679245 CCACACACGCCCACTGCTCCTCTCCAGGCGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 227 206 0.847581567864096 0.85 0.848790783932048 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.0913319583986587 -0.100921263732804 NA NA 0.944917394997779 0.626378032476821 -0.0961266110657312 NA NA NA FALSE 0.005 0.144 . intron_variant MODIFIER TSPAN15 HGNC 23298 ENST00000452130 1/6 1 NA GTG T,C 8.236e-06 10:69485116 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 intron_variant 0.176528 0.15063 0.02906 0.074636 0.623003397140528 0.104943 0.00185580828692184 FALSE 4.06138e-06 ENSE00000707650_006 ENSE00000707650 006 10 71244844 71245013 + 53 75 42 C T 71244894 1171 51 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCTAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485137 69485138 69485138 upstr_intron -3 -0.0377358490566038 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCTAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 70 60 0.85 0.83157438232885 0.840787191164425 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.0889135262627552 -0.119346881403954 NA NA 0.944917394997779 0.626378032476821 -0.104130203833355 NA NA NA FALSE 1 3.536 . splice_region_variant&intron_variant LOW TSPAN15 HGNC 23298 ENST00000452130 1/6 1 NA CCA C,T 8.236e-06 10:69485138 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 splice_region_variant 2.400601 0.98773 0.92404 0.164513 0.97450350256427 0.97403 0.00185580828692184 FALSE 4.06085e-06 ENSE00000707650_011 ENSE00000707650 011 10 71244844 71245013 + 53 75 42 T G 71244901 1176 58 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCAGGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485144 69485145 69485145 exon 5 0.0666666666666667 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCAGGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 83 46 0.85 0.85 0.85 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.0889135262627552 -0.100921263732804 NA NA 0.944917394997779 0.626378032476821 -0.0949173949977795 NA NA NA FALSE 1 4.582 NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69485145 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 missense_variant 5.027911 0.98415 0.92538 0.706298 0.985848733058015 0 0.00185580828692184 FALSE 4.06072e-06 ENSE00000707650_013 ENSE00000707650 013 10 71244844 71245013 + 53 75 42 C T 71244923 1178 80 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTTATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485166 69485167 69485167 exon 27 0.36 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTTATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 100 167 0.844499212163004 0.85 0.847249606081502 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.0944143140997511 -0.100921263732804 NA NA 0.944917394997779 0.626378032476821 -0.0976677889162774 NA NA NA FALSE 0.997 0.471 . synonymous_variant LOW TSPAN15 HGNC 23298 ENST00000452130 2/7 1 NA TCA C,T 5.765e-05 10:69485167 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 synonymous_variant 1.873829 0.96404 0.86764 0.706298 0.72186593843948 0 0.00185580828692184 FALSE 3.24847e-05 ENSE00000707650_014 ENSE00000707650 014 10 71244844 71245013 + 53 75 42 G A 71244929 1179 86 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATAGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485172 69485173 69485173 exon 33 0.44 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATAGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 63 181 0.85 0.85 0.85 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.0889135262627552 -0.100921263732804 NA NA 0.944917394997779 0.626378032476821 -0.0949173949977795 NA NA NA FALSE 0.014 -0.859 . missense_variant MODERATE TSPAN15 HGNC 23298 ENST00000452130 2/7 rs368399425 1 tolerated(0.93) benign(0) NA TGG G,A 8.236e-06 10:69485173 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 missense_variant 1.908944 0.95567 0.12038 0.706298 0.962913058781725 0 0.00185580828692184 FALSE 4.06058e-06 ENSE00000707650_018 ENSE00000707650 018 10 71244844 71245013 + 53 75 42 G A 71244942 1183 99 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTAGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485185 69485186 69485186 exon -30 0.613333333333333 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTAGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 20 69 0.85 0.802323973401322 0.826161986700661 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.0889135262627552 -0.148597290331482 NA NA 0.944917394997779 0.626378032476821 -0.118755408297119 NA NA NA FALSE 1 9.036 rs35426769 missense_variant MODERATE TSPAN15 HGNC 23298 ENST00000452130 2/7 rs35426769 1 tolerated(0.21) probably_damaging(0.974) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0006 TGG G,A 0.0003624 10:69485186 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 missense_variant 5.388064 0.99331 0.99646 0.706298 0.998669027242639 0 0.00185580828692184 FALSE 0.000397934 ENSE00000707650_022 ENSE00000707650 022 10 71244844 71245013 + 53 75 42 C T 71244959 1187 116 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACTTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 69485202 69485203 69485203 exon -13 0.84 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACTTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 20 20 0.85 0.85 0.85 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.0889135262627552 -0.100921263732804 NA NA 0.944917394997779 0.626378032476821 -0.0949173949977795 NA NA NA FALSE 1 1.393 rs145327069 synonymous_variant LOW TSPAN15 HGNC 23298 ENST00000452130 2/7 rs145327069 1 NA CCT C,T 8.236e-06 10:69485203 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 synonymous_variant 1.856464 0.97027 0.86693 0.706298 0.66547854100447 0 0.00185580828692184 FALSE 4.06055e-06 ENSE00000707650_030 ENSE00000707650 030 10 71244844 71245013 + 53 75 42 G A 71244996 1195 153 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGACCATGTGTGTATGGAGC 69485087 69485257 69485239 69485240 69485240 downstr_intron 25 1.60975609756098 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGACCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant NA NA NA NA NA 297 24 0.978988202965947 0.991669109349396 0.985328656157672 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 NA NA 0.290193437190808 0.427707810170893 0.944917394997779 0.626378032476821 NA 0.35895062368085 NA FALSE NA 0 -0.028 . intron_variant MODIFIER TSPAN15 HGNC 23298 ENST00000452130 2/6 rs201889626 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGC G,A 3.295e-05 10:69485240 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 intron_variant 0.294359 0.23707 0.03512 0.078448 0.701820833831599 0.0564267 0.00185580828692184 FALSE 2.84273e-05 ENSE00000707650_032 ENSE00000707650 032 10 71244844 71245013 + 53 75 42 C T 71244997 1197 154 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGTCATGTGTGTATGGAGC 69485087 69485257 69485240 69485241 69485241 downstr_intron 26 1.63414634146341 CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGTCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC mutant 38 51 0.918867560820083 0.957448567696893 0.938158064258488 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.020045965442672 0.00652730396408963 NA NA 0.944917394997779 0.626378032476821 -0.00675933073929119 NA NA NA FALSE 0 -0.121 NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69485241 TSPAN15 HGNC Symbol protein_coding 56196 ENSG00000099282 ENSE00003500682 intron_variant 0.323911 0.20156 0.00513 0.078448 0.719743806055278 0.0564267 0.00185580828692184 FALSE 8.12196e-06 ENSE00000707650_BRK ENSE00000707650 BRK 10 71244844 71245013 + 53 75 42 A,G; T,T NA NA NA CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCTTTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGCCGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC 69485087 69485257 NA NA NA NA NA NA CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCTTTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGCCGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC CCACACACGCCCACTGCTCCTCTCCAGGTGAGTCTCTGAATTCTGTTTTCCAGTTCATGTACATCCTTGGGATCTGCCTCATCATGGAGCTCATTGGTGGCGTGGTGGCCTTGACCTTCCGGAACCAGGTGGGCCTGTGGATTTGTGTATCGGCCATGTGTGTATGGAGC control 73 74 0 0 0 NA NA NA NA NA 0.938913526262755 0.950921263732804 0.688794765775139 0.563961299178503 -0.938913526262755 -0.950921263732804 NA NA 0.944917394997779 0.626378032476821 -0.944917394997779 NA NA NA TRUE NA NA NA NA NA TSPAN15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN15 NA NA NA ENSG00000099282 ENSE00003500682 NA NA NA NA NA NA NA 0.00185580828692184 FALSE NA ENSE00000708419_000 ENSE00000708419 000 19 41893384 41893553 - 35 90 45 NA NA NA NA NA GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 NA NA NA NA NA NA GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC natural 195 363 0.860501002709631 0.85988353093294 0.860192266821285 835 477 0.972687942905972 0.954895353375102 0.963791648140537 0.860501002709631 0.85988353093294 0.972687942905972 0.954895353375102 0 0 0 0 0.860192266821285 0.963791648140537 0 0 0 FALSE FALSE NA NA NA NA NA EXOSC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXOSC5 NA NA NA ENSG00000077348 ENSE00000708419 NA NA NA NA NA NA NA 0.00119255746638531 FALSE NA ENSE00000708419_BRK ENSE00000708419 BRK 19 41893384 41893553 - 35 90 45 A,G; T,T NA NA NA GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTGGCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCAAAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 NA NA NA NA NA NA GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTTTGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGCCACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC control 1303 452 0 0 0 NA NA NA NA NA 0.860501002709631 0.85988353093294 0.972687942905972 0.954895353375102 -0.860501002709631 -0.85988353093294 NA NA 0.860192266821285 0.963791648140537 -0.860192266821285 NA NA NA TRUE NA NA NA NA NA EXOSC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXOSC5 NA NA NA ENSG00000077348 ENSE00000708419 NA NA NA NA NA NA NA 0.00119255746638531 FALSE NA ENSE00000708963_000 ENSE00000708963 000 2 8936871 8937040 - 30 99 41 NA NA NA NA NA TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 NA NA NA NA NA NA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA natural 54 71 0.995543509155427 0.970809896028858 0.983176702592143 3873 2938 0.992040007799947 0.991739983432081 0.991889995616014 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 0 0 0 0 0.983176702592143 0.991889995616014 0 0 0 FALSE FALSE NA NA NA NA NA KIDINS220 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIDINS220 NA NA NA ENSG00000134313 ENSE00003673751 NA NA NA NA NA NA NA 0.0290445776929918 FALSE NA ENSE00000708963_001 ENSE00000708963 001 2 8936871 8937040 - 30 99 41 C T 8936885 115 156 TACAGTGTTCTCTCTGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796754 8796755 8796755 downstr_intron 16 1.55172413793103 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCAGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 112 40 1 1 1 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 0.00826001656791864 0.983176702592143 0.991889995616014 NA 0.00811000438398574 NA FALSE NA 0 -2.884 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 rs367848355 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 T:0 T:0.0001 CCG C,T 0.0006036 2:8796755 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 intron_variant -0.053145 0.07144 0.00153 0.088506 0.595385844850195 0.15811 0.0290445776929918 FALSE 0.000609394 ENSE00000708963_003 ENSE00000708963 003 2 8936871 8937040 - 30 99 41 A C 8936888 117 153 TACAGTGTTCTCTCCGCCCAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796757 8796758 8796758 downstr_intron 13 1.44827586206897 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGGGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 277 406 1 0.988130404113669 0.994065202056835 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 -0.00360957931841199 0.983176702592143 0.991889995616014 NA 0.00217520644082042 NA FALSE NA 0 0.646 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:8796758 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 intron_variant 0.115124 0.14906 0.05201 0.088506 0.499560505921096 0.221563 0.0290445776929918 FALSE 4.06217e-06 ENSE00000708963_004 ENSE00000708963 004 2 8936871 8937040 - 30 99 41 A G 8936888 118 153 TACAGTGTTCTCTCCGCGCAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796757 8796758 8796758 downstr_intron 13 1.44827586206897 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGCGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 148 21 0.99253844621595 0.95308210867551 0.97281027744573 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.000498438416002389 -0.0386578747565715 0.983176702592143 0.991889995616014 NA -0.0190797181702845 NA FALSE NA 0 0.646 NA NA NA KIDINS220 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIDINS220 NA NA NA ENSG00000134313 ENSE00003673751 intron_variant 0.363129 0.14207 0.03014 0.088506 0.551721709209323 0.221563 0.0290445776929918 FALSE 4.06217e-06 ENSE00000708963_008 ENSE00000708963 008 2 8936871 8937040 - 30 99 41 A G 8936931 122 110 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTGTCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796800 8796801 8796801 exon -31 0.696969696969697 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGACAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 208 999 0.942746865862956 0.999272896624686 0.971009881243821 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA -0.0492931419369913 0.00753291319260496 0.983176702592143 0.991889995616014 NA -0.0208801143721932 NA FALSE NA 0.998 0.8 rs115226053 upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 rs115226053 1 G:0.0014 G:0 G:0.0029 NA G:0 G:0.005 G:0 G:0.0008 G:0.0064 TAT A,G 0.003903 2:8796801 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 synonymous_variant -0.280427 0.95824 0.80587 0.732398 0.381286315470297 0 0.0290445776929918 FALSE 0.00341167 ENSE00000708963_009 ENSE00000708963 009 2 8936871 8937040 - 30 99 41 C G 8936933 123 108 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATGTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796802 8796803 8796803 exon -33 0.676767676767677 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTACATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 1269 1030 0.996491743281422 0.993497789372875 0.994994766327149 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00445173548147504 0.00175780594079367 0.983176702592143 0.991889995616014 NA 0.00310477071113435 NA FALSE NA 1 7.397 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 1 NA TCT C,G 8.269e-06 2:8796803 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 missense_variant 5.264867 0.99323 0.98862 0.732398 0.994200530905847 0 0.0290445776929918 FALSE 4.06154e-06 ENSE00000708963_010 ENSE00000708963 010 2 8936871 8937040 - 30 99 41 A C 8936955 124 86 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCCATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796824 8796825 8796825 exon 45 0.454545454545455 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATGGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 170 343 1 0.991096382958805 0.995548191479402 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 -0.000643600473276384 0.983176702592143 0.991889995616014 NA 0.00365819586338822 NA FALSE NA 0.895 0.077 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 1 NA CAA A,C 5.788e-05 2:8796825 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 missense_variant -0.212212 0.95395 0.76992 0.732398 0.885226000589294 0 0.0290445776929918 FALSE 3.24955e-05 ENSE00000708963_011 ENSE00000708963 011 2 8936871 8937040 - 30 99 41 A G 8936965 125 76 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCGTCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796834 8796835 8796835 exon 35 0.353535353535354 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGACGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 643 135 1 1 1 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 0.00826001656791864 0.983176702592143 0.991889995616014 NA 0.00811000438398574 NA FALSE NA 1 8.853 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 rs554726925 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAT A,G 1.654e-05 2:8796835 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 missense_variant 3.537707 0.99061 0.98977 0.732398 0.931122685419103 0 0.0290445776929918 FALSE 4.062e-06 ENSE00000708963_012 ENSE00000708963 012 2 8936871 8937040 - 30 99 41 G C 8936970 126 71 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTCGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796839 8796840 8796840 exon 30 0.303030303030303 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACGAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 16 1113 1 0.997145959031335 0.998572979515668 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 0.00540597559925382 0.983176702592143 0.991889995616014 NA 0.00668298389965333 NA FALSE NA 0.996 0.259 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 1 NA TGG G,C 8.27e-06 2:8796840 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 synonymous_variant 0.342632 0.96662 0.87823 0.732398 0.488505502088691 0 0.0290445776929918 FALSE 4.06217e-06 ENSE00000708963_013 ENSE00000708963 013 2 8936871 8937040 - 30 99 41 T C 8936977 127 64 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCCTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796846 8796847 8796847 exon 23 0.232323232323232 CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAGGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 37 208 1 0.99923889021821 0.999619445109105 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 0.00749890678612875 0.983176702592143 0.991889995616014 NA 0.00772944949309079 NA FALSE NA 1 7.606 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 1 NA CTT T,C 4.962e-05 2:8796847 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 missense_variant 2.668027 0.99034 0.98319 0.732398 0.989066324753715 0 0.0290445776929918 FALSE 3.24963e-05 ENSE00000708963_016 ENSE00000708963 016 2 8936871 8937040 - 30 99 41 A C 8937011 130 30 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACACATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796880 8796881 8796881 upstr_intron -12 -0.268292682926829 CAAGCTATTAATCTGGCAAATGTTCTTATGTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 295 145 1 1 1 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 0.00826001656791864 0.983176702592143 0.991889995616014 NA 0.00811000438398574 NA FALSE NA 0.003 -0.167 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 rs368636078 1 NA C:0 C:0.0005 AAA A,C 0.0001572 2:8796881 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 intron_variant 0.910236 0.29409 0.20165 0.088506 0.79483292323575 0.259019 0.0290445776929918 FALSE 0.000130031 ENSE00000708963_017 ENSE00000708963 017 2 8936871 8937040 - 30 99 41 A C 8937014 131 27 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATCAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 8796883 8796884 8796884 upstr_intron -15 -0.341463414634146 CAAGCTATTAATCTGGCAAATGTTCTGATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 347 111 1 1 1 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 0.00826001656791864 0.983176702592143 0.991889995616014 NA 0.00811000438398574 NA FALSE NA 0.115 1.46 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 1 NA TAA A,C 8.272e-06 2:8796884 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 intron_variant 0.805523 0.35908 0.11974 0.088506 0.823735738291915 0.18517 0.0290445776929918 FALSE 4.06375e-06 ENSE00000708963_018 ENSE00000708963 018 2 8936871 8937040 - 30 99 41 C T 8937019 132 22 TACAGTGTTCTCTCCGCACAGATGTTTTACCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCCTGTGGGCACAAATAAGAATATTTGCCAGATTAATAGCTTG 8796740 8796910 8796888 8796889 8796889 upstr_intron -20 -0.463414634146341 CAAGCTATTAATCTGGCAAATATTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA mutant NA NA NA NA NA 437 62 1 1 1 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 NA NA 0.00795999220005283 0.00826001656791864 0.983176702592143 0.991889995616014 NA 0.00811000438398574 NA FALSE NA 0 -2.144 . upstream_gene_variant MODIFIER KIDINS220 HGNC 29508 ENST00000474782 rs201017376 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACA C,T 8.272e-06 2:8796889 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003673751 intron_variant -0.188258 0.09996 0.01526 0.108992 0.502559387405886 0.18517 0.0290445776929918 FALSE 4.06445e-06 ENSE00000708963_BRK ENSE00000708963 BRK 2 8936871 8937040 - 30 99 41 A,G; T,T NA NA NA TACAGTGTTCTCTCCGCACAGATGTTTTGGCTTATCTACAGCAGACACTTTAGCACCTTTATCTAGCAGCAGCTCCACCACTTCAATGTTTCTCATCTTGGTAGCCTTTATAAGTGGCGTTTCACCATCAAGTGGGCACAAATAAGAACATTTGCCAGATTAATAGCTTG 8796740 8796910 NA NA NA NA NA NA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACTTGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGCCAAAACATCTGTGCGGAGAGAACACTGTA CAAGCTATTAATCTGGCAAATGTTCTTATTTGTGCCCACAGGATGGTGAAACGCCACTTATAAAGGCTACCAAGATGAGAAACATTGAAGTGGTGGAGCTGCTGCTAGATAAAGGTGCTAAAGTGTCTGCTGTAGATAAGGTAAAACATCTGTGCGGAGAGAACACTGTA control 998 169 0 0 0 NA NA NA NA NA 0.995543509155427 0.970809896028858 0.992040007799947 0.991739983432081 -0.995543509155427 -0.970809896028858 NA NA 0.983176702592143 0.991889995616014 -0.983176702592143 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIDINS220 NA NA NA ENSG00000134313 ENSE00003673751 NA NA NA NA NA NA NA 0.0290445776929918 FALSE NA ENSE00000708967_000 ENSE00000708967 000 2 8940500 8940669 - 30 99 41 NA NA NA NA NA TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 NA NA NA NA NA NA TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT natural 57 85 0.958227299819629 0.942459040391377 0.950343170105503 2233 701 0.97571692293594 0.983664908114226 0.979690915525083 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 0 0 0 0 0.950343170105503 0.979690915525083 0 0 0 FALSE FALSE NA NA NA NA NA KIDINS220 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIDINS220 NA NA NA ENSG00000134313 ENSE00003542018 NA NA NA NA NA NA NA 0.0290445776929918 FALSE NA ENSE00000708967_002 ENSE00000708967 002 2 8940500 8940669 - 30 99 41 T G 8940515 135 155 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACCGTGCAGTTGCTATCT 8800369 8800539 8800384 8800385 8800385 downstr_intron 15 1.51724137931034 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACCGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 346 21 0.969373684484914 1 0.984686842242457 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA -0.00634323845102513 0.0163350918857738 0.950343170105503 0.979690915525083 NA 0.00499592671737431 NA FALSE NA 0 -0.095 . intron_variant MODIFIER KIDINS220 HGNC 29508 ENST00000427284 9/28 1 NA CTG T,G 8.273e-06 2:8800385 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 non_coding_transcript_exon_variant 0.590762 0.24554 0.13679 0.322412 0.533471962633193 0.0605375 0.0290445776929918 FALSE 4.31302e-06 ENSE00000708967_003 ENSE00000708967 003 2 8940500 8940669 - 30 99 41 T C 8940520 136 150 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGGTTACAGTGCAGTTGCTATCT 8800369 8800539 8800389 8800390 8800390 downstr_intron 10 1.3448275862069 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGGTTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 331 109 0.973706854162084 0.968663890785129 0.971185372473606 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA -0.00201006877385534 -0.0150010173290975 0.950343170105503 0.979690915525083 NA -0.00850554305147644 NA FALSE NA 0 -0.341 . intron_variant MODIFIER KIDINS220 HGNC 29508 ENST00000427284 9/28 1 NA ATC T,C 8.273e-06 2:8800390 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 non_coding_transcript_exon_variant 1.137003 0.24671 0.10424 0.322412 0.627143280639552 0.194776 0.0290445776929918 FALSE 8.53322e-06 ENSE00000708967_005 ENSE00000708967 005 2 8940500 8940669 - 30 99 41 T C 8940541 138 129 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACGTTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 8800410 8800411 8800411 exon -12 0.888888888888889 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACGTTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 97 212 1 0.814355105421958 0.907177552710979 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA 0.0242830770640604 -0.169309802692268 0.950343170105503 0.979690915525083 NA -0.072513362814104 NA FALSE NA 1 3.646 . missense_variant MODERATE KIDINS220 HGNC 29508 ENST00000427284 9/29 1 tolerated(0.32) benign(0.413) NA ATG T,C 8.274e-06 2:8800411 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 missense_variant 2.184595 0.9509 0.83206 0.732398 0.993004234382934 0 0.0290445776929918 FALSE 8.18364e-06 ENSE00000708967_006 ENSE00000708967 006 2 8940500 8940669 - 30 99 41 G A 8940542 139 128 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGATATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 8800411 8800412 8800412 exon -13 0.878787878787879 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGATATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 215 299 0.8 0.8 0.8 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA -0.17571692293594 -0.183664908114226 0.950343170105503 0.979690915525083 NA -0.179690915525083 NA FALSE NA 1 3.287 . synonymous_variant LOW KIDINS220 HGNC 29508 ENST00000427284 9/29 1 NA TGT G,A 1.655e-05 2:8800412 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 synonymous_variant 1.229754 0.93554 0.81836 0.732398 0.672789582022466 0 0.0290445776929918 FALSE 1.22468e-05 ENSE00000708967_007 ENSE00000708967 007 2 8940500 8940669 - 30 99 41 A G 8940546 140 124 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATACAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 8800415 8800416 8800416 exon -17 0.838383838383838 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATACAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 173 129 0.949301169291138 0.8 0.874650584645569 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA -0.0264157536448015 -0.183664908114226 0.950343170105503 0.979690915525083 NA -0.105040330879514 NA FALSE NA 1 8.905 . missense_variant MODERATE KIDINS220 HGNC 29508 ENST00000427284 9/29 1 deleterious(0) probably_damaging(0.922) NA TAT A,G 8.274e-06 2:8800416 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 missense_variant 6.436514 0.97302 0.96163 0.732398 0.998398453322001 0 0.0290445776929918 FALSE 4.0777e-06 ENSE00000708967_008 ENSE00000708967 008 2 8940500 8940669 - 30 99 41 T C 8940547 141 123 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATGTAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 8800416 8800417 8800417 exon -18 0.828282828282828 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATGTAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 53 17 0.991967064641388 0.95 0.970983532320694 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA 0.0162501417054481 -0.0336649081142263 0.950343170105503 0.979690915525083 NA -0.00870738320438907 NA FALSE NA 1 5.914 . missense_variant MODERATE KIDINS220 HGNC 29508 ENST00000427284 9/29 rs376700633 1 tolerated(0.96) benign(0.239) NA C:0 C:0.0001 ATA T,C 8.274e-06 2:8800417 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 missense_variant 1.310607 0.9608 0.90923 0.732398 0.993669185175284 0 0.0290445776929918 FALSE 4.07694e-06 ENSE00000708967_010 ENSE00000708967 010 2 8940500 8940669 - 30 99 41 T C 8940549 143 121 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGGTATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 8800418 8800419 8800419 exon -20 0.808080808080808 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGGTATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 1419 18 0.948649933710058 0.924194348748616 0.936422141229337 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA -0.0270669892258816 -0.0594705593656104 0.950343170105503 0.979690915525083 NA -0.043268774295746 NA FALSE NA 1 7.649 . missense_variant MODERATE KIDINS220 HGNC 29508 ENST00000427284 9/29 1 deleterious(0) probably_damaging(0.995) NA ATC T,C 8.274e-06 2:8800419 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 missense_variant 6.674541 0.97249 0.94495 0.732398 0.998837385222115 0 0.0290445776929918 FALSE NA ENSE00000708967_014 ENSE00000708967 014 2 8940500 8940669 - 30 99 41 A T 8940584 147 86 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTAGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 8800453 8800454 8800454 exon 45 0.454545454545455 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTAGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 684 196 0.804845450193734 0.801288678153018 0.803067064173376 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA -0.170871472742206 -0.182376229961209 0.950343170105503 0.979690915525083 NA -0.176623851351707 NA FALSE NA 0.994 0.484 . synonymous_variant LOW KIDINS220 HGNC 29508 ENST00000427284 9/29 1 NA CAA A,T 8.273e-06 2:8800454 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 synonymous_variant 0.23914 0.93431 0.70253 0.732398 0.785002052530347 0 0.0290445776929918 FALSE 4.07186e-06 ENSE00000708967_015 ENSE00000708967 015 2 8940500 8940669 - 30 99 41 C T 8940592 148 78 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTAGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 8800461 8800462 8800462 exon 37 0.373737373737374 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTAGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 56 419 0.8 0.758954184109804 0.779477092054902 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA -0.17571692293594 -0.224710724004422 0.950343170105503 0.979690915525083 NA -0.200213823470181 NA FALSE NA 1 4.604 . missense_variant MODERATE KIDINS220 HGNC 29508 ENST00000427284 9/29 1 deleterious(0.03) benign(0.435) NA CCA C,T 1.655e-05 2:8800462 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 missense_variant 5.330581 0.95902 0.88227 0.732398 0.998633484447397 0 0.0290445776929918 FALSE 8.15268e-06 ENSE00000708967_016 ENSE00000708967 016 2 8940500 8940669 - 30 99 41 A G 8940593 149 77 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGCGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT 8800369 8800539 8800462 8800463 8800463 exon 36 0.363636363636364 TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGCGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT TCAATTTACCTTGTTTTTGTTTTTATTTTCTGTCTTCTTAGAGTGGGGATACTGTGTTGATTGGCGCTGTCAGAGGTGGTCATGTTGAAATTGTTCGAGCGCTTCTCCAAAAATATGCTGATATAGACATTAGAGGACAGGTATGTGTGATTACAGTGCAGTTGCTATCT mutant NA NA NA NA NA 148 343 1 1 1 0.958227299819629 0.942459040391377 0.97571692293594 0.983664908114226 NA NA 0.0242830770640604 0.0163350918857738 0.950343170105503 0.979690915525083 NA 0.0203090844749171 NA FALSE NA 0.62 -0.199 . synonymous_variant LOW KIDINS220 HGNC 29508 ENST00000427284 9/29 rs202122176&COSM3840230&COSM3840231 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAC A,G 8.274e-06 2:8800463 KIDINS220 HGNC Symbol protein_coding 116549 ENSG00000134313 ENSE00003542018 synonymous_variant 1.856457 0.92264 0.52252 0.732398 0.734561452431973 0 0.0290445776929918 FALSE 4.07548e-06 ENSE00000709778_000 ENSE00000709778 000 11 33360256 33360425 + 47 87 36 NA NA NA NA NA GCATGTAAGATGAACAAATGTGGCTATGGTACTCACATGCGCTACATCATCCAGACTGTTGAAAATGTATTTTCTGGCTTCTTTAGACTTCATTCCTGTCTCTGCCTCATGCTCTTCCAATGTCTTATTGCATATATCAAAGGGAAAAAAGAATACATTATTACAAATTT 33338709 33338879 NA NA NA NA NA NA AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC natural NA NA NA NA NA 990 629 0.956318306741794 0.926505656124028 0.941411981432911 NA NA 0.956318306741794 0.926505656124028 NA NA 0 0 NA 0.941411981432911 NA 0 NA FALSE NA NA NA NA NA NA HIPK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HIPK3 NA NA NA ENSG00000110422 ENSE00000709778 NA NA NA NA NA NA NA 0.893187377239476 FALSE NA ENSE00000709778_009 ENSE00000709778 009 11 33360256 33360425 + 47 87 36 A T 33360333 898 78 GCATGTAAGATGAACAAATGTGGCTATGGTACTCACATGCGCTACATCATCCAGACTGTTGAAAATGTATTTTCTGGCTTCTTTAGACTTCAATCCTGTCTCTGCCTCATGCTCTTCCAATGTCTTATTGCATATATCAAAGGGAAAAAAGAATACATTATTACAAATTT 33338709 33338879 33338786 33338787 33338787 exon 31 0.35632183908046 AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGATTGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC mutant NA NA NA NA NA 40 399 1 0.995991015556054 0.997995507778027 NA NA 0.956318306741794 0.926505656124028 NA NA 0.043681693258206 0.0694853594320258 NA 0.941411981432911 NA 0.0565835263451159 NA FALSE NA 1 7.341 . missense_variant MODERATE HIPK3 HGNC 4915 ENST00000525975 5/16 1 tolerated(0.22) benign(0.005) NA AAT A,T 1.647e-05 11:33338787 HIPK3 HGNC Symbol protein_coding 100351 ENSG00000110422 ENSE00000709778 missense_variant 2.274469 0.98758 0.99128 0.732398 0.94262657173387 0 0.893187377239476 FALSE 1.22091e-05 ENSE00000709778_010 ENSE00000709778 010 11 33360256 33360425 + 47 87 36 A G 33360355 899 100 GCATGTAAGATGAACAAATGTGGCTATGGTACTCACATGCGCTACATCATCCAGACTGTTGAAAATGTATCTTCTGGCTTCTTTAGACTTCATTCCTGTCTCTGCCTCATGCTCTTCCAATGTCTTATTGCATATATCAAAGGGAAAAAAGAATACATTATTACAAATTT 33338709 33338879 33338808 33338809 33338809 exon -35 0.609195402298851 AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAGATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC mutant NA NA NA NA NA 134 111 1 1 1 NA NA 0.956318306741794 0.926505656124028 NA NA 0.043681693258206 0.0734943438759715 NA 0.941411981432911 NA 0.0585880185670888 NA FALSE NA 1 9.319 . missense_variant MODERATE HIPK3 HGNC 4915 ENST00000525975 5/16 COSM3415814 1 deleterious(0.03) probably_damaging(0.966) NA AAA A,G 8.236e-06 11:33338809 HIPK3 HGNC Symbol protein_coding 100351 ENSG00000110422 ENSE00000709778 missense_variant 5.712914 0.99479 0.99777 0.732398 0.998873229140835 0 0.893187377239476 FALSE 4.06782e-06 ENSE00000709778_013 ENSE00000709778 013 11 33360256 33360425 + 47 87 36 G A 33360381 902 126 GCATGTAAGATGAACAAATGTGGCTATGGTACTCACATGCGCTATATCATCCAGACTGTTGAAAATGTATTTTCTGGCTTCTTTAGACTTCATTCCTGTCTCTGCCTCATGCTCTTCCAATGTCTTATTGCATATATCAAAGGGAAAAAAGAATACATTATTACAAATTT 33338709 33338879 33338834 33338835 33338835 exon -9 0.908045977011494 AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATATAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC mutant NA NA NA NA NA 746 399 0.956150924968272 0.95333549222399 0.954743208596131 NA NA 0.956318306741794 0.926505656124028 NA NA -0.000167381773521935 0.0268298360999613 NA 0.941411981432911 NA 0.0133312271632197 NA FALSE NA 1 6.304 rs266472 missense_variant MODERATE HIPK3 HGNC 4915 ENST00000525975 5/16 rs266472 1 tolerated(1) benign(0.001) A:0.0186 A:0.0666 A:0.0072 NA A:0 A:0 A:0 A:0.0468 A:0.0003 TGT A,A 0.004687 11:33338835 HIPK3 HGNC Symbol protein_coding 100351 ENSG00000110422 ENSE00000709778 missense_variant 0.729765 0.94732 0.05688 0.732398 0.136935532005322 0 0.893187377239476 FALSE 0.00369151 ENSE00000709778_014 ENSE00000709778 014 11 33360256 33360425 + 47 87 36 C T 33360385 903 130 GCATGTAAGATGAACAAATGTGGCTATGGTACTCACATGCACTACATCATCCAGACTGTTGAAAATGTATTTTCTGGCTTCTTTAGACTTCATTCCTGTCTCTGCCTCATGCTCTTCCAATGTCTTATTGCATATATCAAAGGGAAAAAAGAATACATTATTACAAATTT 33338709 33338879 33338838 33338839 33338839 exon -5 0.954022988505747 AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGTGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC mutant NA NA NA NA NA 30 52 0.95 0.996946335894003 0.973473167947001 NA NA 0.956318306741794 0.926505656124028 NA NA -0.00631830674179412 0.0704406797699745 NA 0.941411981432911 NA 0.0320611865140902 NA FALSE NA 1 1.097 . missense_variant MODERATE HIPK3 HGNC 4915 ENST00000525975 5/16 rs559716959 1 tolerated(0.22) benign(0.01) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCG C,T 3.295e-05 11:33338839 HIPK3 HGNC Symbol protein_coding 100351 ENSG00000110422 ENSE00000709778 missense_variant 2.342862 0.96339 0.5233 0.732398 0.962570600382327 0 0.893187377239476 FALSE 3.67014e-05 ENSE00000709778_015 ENSE00000709778 015 11 33360256 33360425 + 47 87 36 G T 33360386 904 131 GCATGTAAGATGAACAAATGTGGCTATGGTACTCACATGAGCTACATCATCCAGACTGTTGAAAATGTATTTTCTGGCTTCTTTAGACTTCATTCCTGTCTCTGCCTCATGCTCTTCCAATGTCTTATTGCATATATCAAAGGGAAAAAAGAATACATTATTACAAATTT 33338709 33338879 33338839 33338840 33338840 exon -4 0.96551724137931 AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCTCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC AAATTTGTAATAATGTATTCTTTTTTCCCTTTGATATATGCAATAAGACATTGGAAGAGCATGAGGCAGAGACAGGAATGAAGTCTAAAGAAGCCAGAAAATACATTTTCAACAGTCTGGATGATGTAGCGCATGTGAGTACCATAGCCACATTTGTTCATCTTACATGC mutant NA NA NA NA NA 24 88 1 1 1 NA NA 0.956318306741794 0.926505656124028 NA NA 0.043681693258206 0.0734943438759715 NA 0.941411981432911 NA 0.0585880185670888 NA FALSE NA 1 5.613 NA NA NA HIPK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:33338840 HIPK3 HGNC Symbol protein_coding 100351 ENSG00000110422 ENSE00000709778 synonymous_variant 0.85289 0.98207 0.98621 0.732398 0.451156560799263 0 0.893187377239476 FALSE 4.07957e-06 ENSE00000709838_000 ENSE00000709838 000 11 34163225 34163394 + 41 99 30 NA NA NA NA NA GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 NA NA NA NA NA NA GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC natural 825 1058 0.85784556352366 0.819453692300399 0.83864962791203 5260 2593 0.851167542383985 0.776399723830612 0.813783633107298 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 0 0 0 0 0.83864962791203 0.813783633107298 0 0 0 FALSE FALSE NA NA NA NA NA NAT10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAT10 NA NA NA ENSG00000135372 ENSE00000709838 NA NA NA NA NA NA NA 1.05399824567495e-13 FALSE NA ENSE00000709838_001 ENSE00000709838 001 11 34163225 34163394 + 41 99 30 C G 34163244 911 20 GCTCCTTCATCTTCTGCTTGTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141696 34141697 34141697 upstr_intron -22 -0.51219512195122 GCTCCTTCATCTTCTGCTTGTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 171 61 0.85 0.85 0.85 663 326 0.854553507432186 0.933639493487572 0.894096500459879 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365995 0.0305463076996008 0.00338596504820077 0.15723976965696 0.83864962791203 0.813783633107298 0.0113503720879704 0.0803128673525803 0.0689624952646099 FALSE FALSE 0 0.784 . intron_variant MODIFIER NAT10 HGNC 29830 ENST00000531159 23/26 1 NA TCT C,G 8.236e-06 11:34141697 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 intron_variant 1.104771 0.29491 0.26756 0.295142 0.693822453506736 0.163993 1.05399824567495e-13 FALSE 4.06643e-06 ENSE00000709838_002 ENSE00000709838 002 11 34163225 34163394 + 41 99 30 T C 34163245 912 21 GCTCCTTCATCTTCTGCTTCCCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141697 34141698 34141698 upstr_intron -21 -0.48780487804878 GCTCCTTCATCTTCTGCTTCCCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 379 332 0.842734756934342 0.85 0.846367378467171 213 1284 0.8012237524266 0.800393797059339 0.800808774742969 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.0151108065893181 0.0305463076996008 -0.0499437899573852 0.0239940732287268 0.83864962791203 0.813783633107298 0.00771775055514135 -0.0129748583643292 0.0206926089194706 FALSE FALSE 0 -0.221 . intron_variant MODIFIER NAT10 HGNC 29830 ENST00000531159 23/26 rs556679301 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CTC T,C 8.236e-06 11:34141698 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 intron_variant 0.949397 0.23936 0.0218 0.295142 0.729754969729056 0.163993 1.05399824567495e-13 FALSE 1.21955e-05 ENSE00000709838_003 ENSE00000709838 003 11 34163225 34163394 + 41 99 30 G C 34163252 913 28 GCTCCTTCATCTTCTGCTTCTCTGTTGCTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141704 34141705 34141705 upstr_intron -14 -0.317073170731707 GCTCCTTCATCTTCTGCTTCTCTGTTGCTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant NA NA NA NA NA 127 399 0.999675506580922 1 0.999837753290461 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 NA NA 0.148507964196937 0.223600276169388 0.83864962791203 0.813783633107298 NA 0.186054120183163 NA FALSE NA 0 -0.217 . intron_variant MODIFIER NAT10 HGNC 29830 ENST00000531159 23/26 1 NA GGT G,C 1.647e-05 11:34141705 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 intron_variant -0.179761 0.20051 0.03694 0.295142 0.386268887184965 0.163993 1.05399824567495e-13 FALSE 4.06369e-06 ENSE00000709838_005 ENSE00000709838 005 11 34163225 34163394 + 41 99 30 C G 34163257 915 33 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTGTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141709 34141710 34141710 upstr_intron -9 -0.195121951219512 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTGTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 25 46 0.827759039888799 0.96752086128855 0.897639950588675 630 291 0.836283019947774 0.99329041515724 0.914786717552507 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.0300865236348606 0.148067168988151 -0.0148845224362104 0.216890691326628 0.83864962791203 0.813783633107298 0.0589903226766451 0.101003084445209 0.0420127617685639 FALSE FALSE 0.609 0.946 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:34141710 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 intron_variant 0.62822 0.34971 0.86786 0.295142 0.664351012705176 0.178852 1.05399824567495e-13 FALSE 0.000316898 ENSE00000709838_006 ENSE00000709838 006 11 34163225 34163394 + 41 99 30 C T 34163257 916 33 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTTTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141709 34141710 34141710 upstr_intron -9 -0.195121951219512 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTTTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 111 169 0.85 0.85 0.85 672 91 0.855449374338246 0.8 0.827724687169123 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365995 0.0305463076996008 0.00428183195426091 0.0236002761693882 0.83864962791203 0.813783633107298 0.0113503720879704 0.0139410540618246 0.00259068197385415 FALSE FALSE 0.609 0.946 NA NA NA NAT10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAT10 NA NA NA ENSG00000135372 ENSE00000709838 intron_variant 0.67083 0.32627 0.52255 0.295142 0.647341450562533 0.178852 1.05399824567495e-13 FALSE 4.06279e-06 ENSE00000709838_007 ENSE00000709838 007 11 34163225 34163394 + 41 99 30 T A 34163269 917 45 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTAATTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141721 34141722 34141722 exon 4 0.0404040404040404 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTAATTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 124 330 0.85 0.839926331304864 0.844963165652432 614 536 0.930129818042292 0.869880955001097 0.900005386521694 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365995 0.0204726390044652 0.0789622756583069 0.0934812311704852 0.83864962791203 0.813783633107298 0.00631353774040261 0.0862217534143961 0.0799082156739935 FALSE FALSE 1 7.358 . missense_variant MODERATE NAT10 HGNC 29830 ENST00000531159 24/27 1 tolerated(0.15) benign(0.023) NA ATT T,A 1.647e-05 11:34141722 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 2.813868 0.99327 0.99716 0.706548 0.971334684612817 0 1.05399824567495e-13 FALSE 1.62447e-05 ENSE00000709838_008 ENSE00000709838 008 11 34163225 34163394 + 41 99 30 A G 34163273 918 49 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAGTGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141725 34141726 34141726 exon 8 0.0808080808080808 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAGTGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 28 16 0.0461679623144327 0.0412433235058689 0.0437056429101508 122 114 0.00402585756598568 0 0.00201292878299284 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.811677601209227 -0.77821036879453 -0.847141684817999 -0.776399723830612 0.83864962791203 0.813783633107298 -0.794943985001879 -0.811770704324305 0.0168267193224267 TRUE TRUE 0.049 0.431 . missense_variant MODERATE NAT10 HGNC 29830 ENST00000531159 24/27 1 tolerated(0.6) benign(0.003) NA AAT A,G 8.236e-06 11:34141726 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 0.415468 0.39484 0.12342 0.706548 0.93381020214808 0 1.05399824567495e-13 FALSE 4.06118e-06 ENSE00000709838_009 ENSE00000709838 009 11 34163225 34163394 + 41 99 30 G T 34163296 919 72 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTTAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141748 34141749 34141749 exon 31 0.313131313131313 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTTAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant NA NA NA NA NA 92 477 0.0776940054717785 0.147705912950207 0.112699959210993 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 NA NA -0.773473536912206 -0.628693810880405 0.83864962791203 0.813783633107298 NA -0.701083673896306 NA TRUE NA 1 9.073 . stop_gained HIGH NAT10 HGNC 29830 ENST00000531159 24/27 1 NA HC TGA G,T 1.647e-05 11:34141749 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 stop_gained 15.368096 0.99538 0.99591 0.706548 0.997537678707575 0 1.05399824567495e-13 FALSE 4.06072e-06 ENSE00000709838_010 ENSE00000709838 010 11 34163225 34163394 + 41 99 30 C T 34163315 920 91 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGTGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141767 34141768 34141768 exon -50 0.505050505050505 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGTGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 25 20 0.85 0.85 0.85 NA NA NA NA NA 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365995 0.0305463076996008 NA NA 0.83864962791203 0.813783633107298 0.0113503720879704 NA NA NA FALSE 1 3.632 . missense_variant MODERATE NAT10 HGNC 29830 ENST00000531159 24/27 rs201926792 1 tolerated(0.37) benign(0) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 GCG C,T 4.118e-05 11:34141768 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 3.23788 0.98065 0.75779 0.706548 0.934072880868686 0 1.05399824567495e-13 FALSE 4.8729e-05 ENSE00000709838_011 ENSE00000709838 011 11 34163225 34163394 + 41 99 30 G A 34163316 921 92 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCAAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141768 34141769 34141769 exon -49 0.515151515151515 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCAAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 183 187 0.754588475993857 0.85 0.802294237996928 1002 207 0.7729202709788 0.8 0.7864601354894 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.103257087529803 0.0305463076996008 -0.0782472714051847 0.0236002761693882 0.83864962791203 0.813783633107298 -0.0363553899151011 -0.0273234976178983 0.0090318922972028 FALSE FALSE 1 1.317 . synonymous_variant LOW NAT10 HGNC 29830 ENST00000531159 24/27 1 NA CGA G,A 8.236e-06 11:34141769 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 synonymous_variant 2.005482 0.98087 0.85102 0.706548 0.66264719013496 0 1.05399824567495e-13 FALSE 8.1215e-06 ENSE00000709838_012 ENSE00000709838 012 11 34163225 34163394 + 41 99 30 G T 34163323 922 99 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATTTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141775 34141776 34141776 exon -42 0.585858585858586 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATTTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 53 176 0.85 0.85 0.85 378 2056 0.985913298904389 0.936662007349683 0.961287653127036 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365995 0.0305463076996008 0.134745756520404 0.160262283519071 0.83864962791203 0.813783633107298 0.0113503720879704 0.147504020019738 0.136153647931767 FALSE FALSE 0.99 2.261 . missense_variant MODERATE NAT10 HGNC 29830 ENST00000531159 24/27 1 tolerated(0.5) benign(0.002) NA TGT G,T 8.236e-06 11:34141776 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 2.638031 0.97986 0.96412 0.706548 0.981056445388322 0 1.05399824567495e-13 FALSE 4.06078e-06 ENSE00000709838_013 ENSE00000709838 013 11 34163225 34163394 + 41 99 30 T G 34163330 923 106 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCAGGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141782 34141783 34141783 exon -35 0.656565656565657 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCAGGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 216 235 0 0 0 736 630 0.00660703496301937 0.0343192618273149 0.0204631483951671 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.85784556352366 -0.819453692300399 -0.844560507420965 -0.742080462003297 0.83864962791203 0.813783633107298 -0.83864962791203 -0.793320484712131 0.0453291431998984 TRUE TRUE 1 7.381 . missense_variant MODERATE NAT10 HGNC 29830 ENST00000531159 24/27 1 tolerated(0.16) possibly_damaging(0.62) NA ATG T,G 8.236e-06 11:34141783 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 4.810584 0.99361 0.99286 0.706548 0.98240263460913 0 1.05399824567495e-13 FALSE 4.06075e-06 ENSE00000709838_014 ENSE00000709838 014 11 34163225 34163394 + 41 99 30 C A 34163337 924 113 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCAACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141789 34141790 34141790 exon -28 0.727272727272727 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCAACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant NA NA NA NA NA 700 851 0.871199042270544 0.988823908568999 0.930011475419771 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 NA NA 0.0200314998865593 0.212424184738387 0.83864962791203 0.813783633107298 NA 0.116227842312473 NA FALSE NA 0.976 0.18 . synonymous_variant LOW NAT10 HGNC 29830 ENST00000531159 24/27 1 NA CCA C,A 8.236e-06 11:34141790 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 synonymous_variant 1.724895 0.97127 0.74762 0.706548 0.603236502180421 0 1.05399824567495e-13 FALSE 4.06072e-06 ENSE00000709838_015 ENSE00000709838 015 11 34163225 34163394 + 41 99 30 C T 34163339 925 115 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCATGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141791 34141792 34141792 exon -26 0.747474747474748 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCATGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 22 14 0.85 0.85 0.85 3258 285 0.840974841339141 0.826741138775487 0.833857990057314 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365995 0.0305463076996008 -0.0101927010448435 0.0503414149448753 0.83864962791203 0.813783633107298 0.0113503720879704 0.0200743569500159 0.00872398486204551 FALSE FALSE 1 7.179 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:34141792 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 4.150855 0.99511 0.99257 0.706548 0.998648947470789 0 1.05399824567495e-13 FALSE 0.000361418 ENSE00000709838_016 ENSE00000709838 016 11 34163225 34163394 + 41 99 30 C G 34163339 926 115 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCAGGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141791 34141792 34141792 exon -26 0.747474747474748 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCAGGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 214 288 0.896030516160427 0.85 0.873015258080214 183 491 0.92826397867121 0.922368465193641 0.925316221932426 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 0.0381849526367674 0.0305463076996008 0.0770964362872256 0.145968741363029 0.83864962791203 0.813783633107298 0.0343656301681841 0.111532588825128 0.0771669586569435 FALSE FALSE 1 7.179 NA NA NA NAT10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAT10 NA NA NA ENSG00000135372 ENSE00000709838 missense_variant 3.285907 0.99536 0.99431 0.706548 0.965150703435382 0 1.05399824567495e-13 FALSE 8.12176e-06 ENSE00000709838_017 ENSE00000709838 017 11 34163225 34163394 + 41 99 30 G A 34163340 927 116 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACAATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141792 34141793 34141793 exon -25 0.757575757575758 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACAATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 82 35 0.545950169401337 0.558139326445544 0.552044747923441 232 303 0.834677384390482 0.667287037465285 0.750982210927884 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.311895394122323 -0.261314365854855 -0.0164901579935025 -0.109112686365327 0.83864962791203 0.813783633107298 -0.286604879988589 -0.0628014221794148 0.223803457809174 FALSE FALSE 0 -3.799 . synonymous_variant LOW NAT10 HGNC 29830 ENST00000531159 24/27 1 NA CGA G,A 3.295e-05 11:34141793 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 synonymous_variant 0.891519 0.09798 0.03018 0.706548 0.442273189258894 0 1.05399824567495e-13 FALSE 3.2486e-05 ENSE00000709838_018 ENSE00000709838 018 11 34163225 34163394 + 41 99 30 T C 34163342 928 118 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGACGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141794 34141795 34141795 exon -23 0.777777777777778 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGACGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant NA NA NA NA NA 313 97 0.999510057334752 0.98956855463834 0.994539305986546 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 NA NA 0.148342514950767 0.213168830807728 0.83864962791203 0.813783633107298 NA 0.180755672879248 NA FALSE NA 1 5.684 rs145780740 missense_variant MODERATE NAT10 HGNC 29830 ENST00000531159 24/27 1 tolerated(0.57) benign(0) NA ATG T,C 8.236e-06 11:34141795 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 1.22138 0.9931 0.98824 0.706548 0.577499539842713 0 1.05399824567495e-13 FALSE NA ENSE00000709838_019 ENSE00000709838 019 11 34163225 34163394 + 41 99 30 C A 34163350 929 126 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCATCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141802 34141803 34141803 exon -15 0.858585858585859 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCATCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 31 58 0.85 0.901350474344306 0.875675237172153 555 72 0.953116895836154 1 0.976558447918077 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365995 0.0818967820439068 0.101949353452169 0.223600276169388 0.83864962791203 0.813783633107298 0.0370256092601234 0.162774814810779 0.125749205550655 FALSE FALSE 0.985 2.186 . missense_variant MODERATE NAT10 HGNC 29830 ENST00000531159 24/27 rs372867574&COSM1178143 1 tolerated(0.07) benign(0.285) NA A:0 A:0.0001 CCT C,A 8.236e-06 11:34141803 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 3.165889 0.98579 0.96559 0.706548 0.990322524049045 0 1.05399824567495e-13 FALSE 1.21836e-05 ENSE00000709838_020 ENSE00000709838 020 11 34163225 34163394 + 41 99 30 C T 34163352 930 128 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTTAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141804 34141805 34141805 exon -13 0.878787878787879 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTTAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant NA NA NA NA NA 430 1069 0 0.018569541614467 0.00928477080723352 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 NA NA -0.851167542383985 -0.757830182216145 0.83864962791203 0.813783633107298 NA -0.804498862300065 NA TRUE NA 0.979 0.031 . synonymous_variant LOW NAT10 HGNC 29830 ENST00000531159 24/27 rs377407633 1 NA T:0 T:0.0001 TCA C,T 8.236e-06 11:34141805 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 synonymous_variant 0.88847 0.97123 0.79512 0.706548 0.552145693694426 0 1.05399824567495e-13 FALSE 8.12262e-06 ENSE00000709838_021 ENSE00000709838 021 11 34163225 34163394 + 41 99 30 C T 34163358 931 134 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGATGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141810 34141811 34141811 exon -7 0.939393939393939 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGATGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 64 64 0.88405783850858 0.85 0.86702891925429 42 143 0.812252086720887 0.801765417958567 0.807008752339727 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 0.0262122749849196 0.0305463076996008 -0.038915455663098 0.0253656941279555 0.83864962791203 0.813783633107298 0.0283792913422602 -0.00677488076757121 0.0351541721098314 FALSE FALSE 0 -2.5 rs138294295 synonymous_variant LOW NAT10 HGNC 29830 ENST00000531159 24/27 rs138294295 1 NA T:0.0002 T:0 ACG C,T 0.0001235 11:34141811 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 synonymous_variant 1.014551 0.11237 0.02426 0.706548 0.323697601320066 0 1.05399824567495e-13 FALSE 0.000125919 ENSE00000709838_022 ENSE00000709838 022 11 34163225 34163394 + 41 99 30 G A 34163359 932 135 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACAACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141811 34141812 34141812 exon -6 0.94949494949495 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACAACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 73 73 0.85 0.85 0.85 1851 796 0.717447180368906 0.823975900004699 0.770711540186802 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365984 0.0305463076996008 -0.133720362015079 0.047576176174087 0.83864962791203 0.813783633107298 0.0113503720879705 -0.0430720929204961 0.0544224650084666 FALSE FALSE 1 9.073 . missense_variant MODERATE NAT10 HGNC 29830 ENST00000531159 24/27 rs553463575 1 deleterious(0.03) benign(0.361) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 8.236e-06 11:34141812 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 missense_variant 3.78944 0.99524 0.99539 0.706548 0.998968505585677 0 1.05399824567495e-13 FALSE 4.06184e-06 ENSE00000709838_023 ENSE00000709838 023 11 34163225 34163394 + 41 99 30 A G 34163364 933 140 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTGGTATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 34141816 34141817 34141817 exon -1 1 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTGGTATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant NA NA NA NA NA 283 192 0.995090214777226 0.998348989173095 0.99671960197516 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 NA NA 0.143922672393241 0.221949265342483 0.83864962791203 0.813783633107298 NA 0.182935968867862 NA FALSE NA 1 7.277 rs112491809 splice_region_variant&synonymous_variant LOW NAT10 HGNC 29830 ENST00000531159 24/27 rs112491809 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 TAG G,G 6.589e-05 11:34141817 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 splice_region_variant 0.672032 0.97591 0.16444 0.719381 0.741870224069419 0 1.05399824567495e-13 FALSE 5.28108e-05 ENSE00000709838_025 ENSE00000709838 025 11 34163225 34163394 + 41 99 30 A G 34163379 935 155 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCGTGGCCTCGGGAGTCC 34141677 34141847 34141831 34141832 34141832 downstr_intron 15 1.51724137931034 GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCGTGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC mutant 26 14 0.977105692678165 0.954300940457856 0.965703316568011 263 802 0.999416829459827 0.991359241337063 0.995388035398445 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 0.119260129154505 0.134847248157457 0.148249287075842 0.214959517506451 0.83864962791203 0.813783633107298 0.127053688655981 0.181604402291147 0.0545507136351657 FALSE FALSE 0 -0.22 . intron_variant MODIFIER NAT10 HGNC 29830 ENST00000531159 24/26 1 NA CAT A,G 8.236e-06 11:34141832 NAT10 HGNC Symbol protein_coding 42068 ENSG00000135372 ENSE00000709838 intron_variant 0.142299 0.18855 0.0291 0.099367 0.238315162453295 0.0535094 1.05399824567495e-13 FALSE 2.85288e-05 ENSE00000709838_BRK ENSE00000709838 BRK 11 34163225 34163394 + 41 99 30 A,G; T,T NA NA NA GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTTTCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTACCATGTCCCTGCTCATGGCCTCGGGAGTCC 34141677 34141847 NA NA NA NA NA NA GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTTTCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTACCATGTCCCTGCTCATGGCCTCGGGAGTCC GCTCCTTCATCTTCTGCTTCTCTGTTGGTTGTCTTTTGTAGCTATTTAATGAAGTTCAGGAAAAGGCCATTGAGGAGCAGATGGTGGCAGCGAAGGATGTGGTCATGGAGCCCACGATGAAGACCCTCAGTGACGACCTAGTATGTCCCTGCTCATGGCCTCGGGAGTCC control 24 30 0.85 0.85 0.85 NA NA NA NA NA 0.85784556352366 0.819453692300399 0.851167542383985 0.776399723830612 -0.00784556352365995 0.0305463076996008 NA NA 0.83864962791203 0.813783633107298 0.0113503720879704 NA NA NA FALSE NA NA NA NA NA NAT10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAT10 NA NA NA ENSG00000135372 ENSE00000709838 NA NA NA NA NA NA NA 1.05399824567495e-13 FALSE NA ENSE00000712020_000 ENSE00000712020 000 12 998258 998427 + 48 84 38 NA NA NA NA NA CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 NA NA NA NA NA NA CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC natural NA NA NA NA NA 702 1827 0.916192707503537 0.985485584776728 0.950839146140133 NA NA 0.916192707503537 0.985485584776728 NA NA 0 0 NA 0.950839146140133 NA 0 NA FALSE NA NA NA NA NA NA WNK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WNK1 NA NA NA ENSG00000060237 ENSE00000712020 NA NA NA NA NA NA NA 0.999999999364508 TRUE NA ENSE00000712020_001 ENSE00000712020 001 12 998258 998427 + 48 84 38 A T 998271 76 14 CTCTGAAGGTGCCTCGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889104 889105 889105 upstr_intron -35 -0.708333333333333 CTCTGAAGGTGCCTCGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant 126 64 0.881145338586323 0.898025759670122 0.889585549128223 NA NA NA NA NA NA NA 0.916192707503537 0.985485584776728 NA NA NA NA NA 0.950839146140133 NA NA NA NA NA 0 -0.445 . intron_variant MODIFIER WNK1 HGNC 14540 ENST00000315939 20/27 1 NA CAC A,T 8.236e-06 12:889105 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 intron_variant 0.22975 0.23516 0.15109 0.322412 0.414249430576786 0.167834 0.999999999364508 TRUE 1.2196e-05 ENSE00000712020_003 ENSE00000712020 003 12 998258 998427 + 48 84 38 C T 998277 78 20 CTCTGAAGGTGCCACGGAATTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889110 889111 889111 upstr_intron -29 -0.583333333333333 CTCTGAAGGTGCCACGGAATTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 46 599 0.993269075047422 1 0.996634537523711 NA NA 0.916192707503537 0.985485584776728 NA NA 0.0770763675438848 0.014514415223272 NA 0.950839146140133 NA 0.0457953913835784 NA FALSE NA 0 -1.295 . intron_variant MODIFIER WNK1 HGNC 14540 ENST00000315939 20/27 rs376751235 1 NA T:0.0002 T:0 ACT C,T 2.471e-05 12:889111 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 intron_variant -0.269052 0.16512 0.0875 0.322412 0.698103282472472 0.167834 0.999999999364508 TRUE 8.12988e-06 ENSE00000712020_007 ENSE00000712020 007 12 998258 998427 + 48 84 38 A G 998310 82 53 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCGGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889143 889144 889144 exon 5 0.0595238095238095 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCGGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant 41 83 0 0 0 NA NA NA NA NA NA NA 0.916192707503537 0.985485584776728 NA NA NA NA NA 0.950839146140133 NA NA NA NA NA 1 6.714 . missense_variant MODERATE WNK1 HGNC 14540 ENST00000315939 21/28 1 deleterious(0.01) possibly_damaging(0.65) NA CAG A,G 8.236e-06 12:889144 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 missense_variant 5.487247 0.98864 0.99086 0.732398 0.996254082868131 0 0.999999999364508 TRUE 4.06322e-06 ENSE00000712020_011 ENSE00000712020 011 12 998258 998427 + 48 84 38 A T 998331 86 74 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGTTGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889164 889165 889165 exon 26 0.30952380952381 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGTTGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 69 277 0.8 0.860710710596528 0.830355355298264 NA NA 0.916192707503537 0.985485584776728 NA NA -0.116192707503537 -0.1247748741802 NA 0.950839146140133 NA -0.120483790841868 NA FALSE NA 1 6.691 . missense_variant MODERATE WNK1 HGNC 14540 ENST00000315939 21/28 1 deleterious(0) possibly_damaging(0.806) NA GAT A,T 8.236e-06 12:889165 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 missense_variant 6.066702 0.98847 0.9921 0.732398 0.973261175802745 0 0.999999999364508 TRUE 1.62525e-05 ENSE00000712020_013 ENSE00000712020 013 12 998258 998427 + 48 84 38 T C 998339 88 82 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAACTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889172 889173 889173 exon 34 0.404761904761905 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAACTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 374 617 0.908097477094759 0.998686020615186 0.953391748854972 NA NA 0.916192707503537 0.985485584776728 NA NA -0.00809523040877858 0.0132004358384584 NA 0.950839146140133 NA 0.00255260271483992 NA FALSE NA 0.993 0.597 . synonymous_variant LOW WNK1 HGNC 14540 ENST00000315939 21/28 rs549616989 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATT T,C 4.118e-05 12:889173 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 synonymous_variant 0.634045 0.96629 0.81564 0.732398 0.700807338127087 0 0.999999999364508 TRUE 5.28215e-05 ENSE00000712020_014 ENSE00000712020 014 12 998258 998427 + 48 84 38 A G 998348 89 91 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAGCACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889181 889182 889182 exon -42 0.511904761904762 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAGCACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 305 1415 0.0204989958778673 0.00022603131892996 0.0103625135983987 NA NA 0.916192707503537 0.985485584776728 NA NA -0.89569371162567 -0.985259553457798 NA 0.950839146140133 NA -0.940476632541734 NA TRUE NA 1 2.12 . missense_variant MODERATE WNK1 HGNC 14540 ENST00000315939 21/28 1 tolerated(0.77) benign(0.04) NA AAC A,G 8.236e-06 12:889182 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 missense_variant 0.735709 0.9657 0.81766 0.732398 0.919258254249292 0 0.999999999364508 TRUE 8.12691e-06 ENSE00000712020_015 ENSE00000712020 015 12 998258 998427 + 48 84 38 A G 998350 90 93 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACGCTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889183 889184 889184 exon -40 0.535714285714286 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACGCTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 342 248 1 1 1 NA NA 0.916192707503537 0.985485584776728 NA NA 0.0838072924964629 0.014514415223272 NA 0.950839146140133 NA 0.0491608538598675 NA FALSE NA 0.171 -0.439 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:889184 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 synonymous_variant 0.230028 0.93912 0.33082 0.732398 0.734812471461914 0 0.999999999364508 TRUE 8.12691e-06 ENSE00000712020_016 ENSE00000712020 016 12 998258 998427 + 48 84 38 A C 998350 91 93 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACCCTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889183 889184 889184 exon -40 0.535714285714286 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACCCTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 40 46 1 0.980499861535466 0.990249930767733 NA NA 0.916192707503537 0.985485584776728 NA NA 0.0838072924964629 -0.00498572324126156 NA 0.950839146140133 NA 0.0394107846276007 NA FALSE NA 0.171 -0.439 NA NA NA WNK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WNK1 NA NA NA ENSG00000060237 ENSE00000712020 synonymous_variant -0.431236 0.93758 0.28921 0.732398 0.725481259311846 0 0.999999999364508 TRUE 4.06345e-06 ENSE00000712020_017 ENSE00000712020 017 12 998258 998427 + 48 84 38 C G 998351 92 94 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACAGTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889184 889185 889185 exon -39 0.547619047619048 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACAGTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 1297 15 0.960486891119825 0.978307937152736 0.96939741413628 NA NA 0.916192707503537 0.985485584776728 NA NA 0.0442941836162877 -0.00717764762399209 NA 0.950839146140133 NA 0.0185582679961478 NA FALSE NA 0.99 2.729 . missense_variant MODERATE WNK1 HGNC 14540 ENST00000315939 21/28 1 deleterious(0) probably_damaging(0.989) NA ACT C,G 1.647e-05 12:889185 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 missense_variant 6.522313 0.99164 0.98573 0.732398 0.996506983942384 0 0.999999999364508 TRUE 1.21904e-05 ENSE00000712020_018 ENSE00000712020 018 12 998258 998427 + 48 84 38 A G 998359 93 102 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCGGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889192 889193 889193 exon -31 0.642857142857143 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCGGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 144 105 1 0.998490786958902 0.999245393479451 NA NA 0.916192707503537 0.985485584776728 NA NA 0.0838072924964629 0.0130052021821739 NA 0.950839146140133 NA 0.0484062473393184 NA FALSE NA 1 2.032 rs56245971 synonymous_variant LOW WNK1 HGNC 14540 ENST00000315939 21/28 rs56245971 1 NA G:0 G:0.0002 CAG A,G 4.942e-05 12:889193 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 synonymous_variant 0.816755 0.97115 0.90276 0.732398 0.71651182073776 0 0.999999999364508 TRUE 7.31416e-05 ENSE00000712020_020 ENSE00000712020 020 12 998258 998427 + 48 84 38 A T 998375 95 118 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGTCTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC 889091 889261 889208 889209 889209 exon -15 0.833333333333333 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGTCTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 47 117 0.989952310262946 0.900017690377996 0.944985000320471 NA NA 0.916192707503537 0.985485584776728 NA NA 0.073759602759409 -0.0854678943987323 NA 0.950839146140133 NA -0.00585414581966165 NA FALSE NA 1 1.65 . missense_variant MODERATE WNK1 HGNC 14540 ENST00000315939 21/28 1 tolerated(0.19) benign(0.119) NA GAC A,T 8.236e-06 12:889209 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 missense_variant -0.465775 0.71454 0.89 0.732398 0.645824004175041 0 0.999999999364508 TRUE NA ENSE00000712020_025 ENSE00000712020 025 12 998258 998427 + 48 84 38 C T 998416 100 159 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATTTCCTCATAACC 889091 889261 889249 889250 889250 downstr_intron 27 1.72972972972973 CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATTTCCTCATAACC CTCTGAAGGTGCCACGGAACTGTATTTACTGTGATTGTTTTCATTCAGTCCCAGCAACCTCTAGAGGATCTTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATCACAGTGACTTCTGCGGTTGGTGTAAGTTTTGAAAATCTTGATAAAATCTCCTCATAACC mutant NA NA NA NA NA 54 202 0.992120861987567 0.996713962214761 0.994417412101164 NA NA 0.916192707503537 0.985485584776728 NA NA 0.0759281544840302 0.0112283774380335 NA 0.950839146140133 NA 0.0435782659610319 NA FALSE NA 0.002 0.76 . intron_variant MODIFIER WNK1 HGNC 14540 ENST00000315939 21/27 rs551635019 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCT C,T 8.236e-06 12:889250 WNK1 HGNC Symbol protein_coding 158859 ENSG00000060237 ENSE00000712020 intron_variant 0.417295 0.30132 0.15603 0.106106 0.678809726762273 0.249058 0.999999999364508 TRUE 4.06868e-06 ENSE00000712808_000 ENSE00000712808 000 2 15769684 15769853 + 42 96 32 NA NA NA NA NA CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 NA NA NA NA NA NA CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT natural NA NA NA NA NA 5490 1498 0.995794957166545 0.982865059802613 0.989330008484579 NA NA 0.995794957166545 0.982865059802613 NA NA 0 0 NA 0.989330008484579 NA 0 NA FALSE NA NA NA NA NA NA DDX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX1 NA NA NA ENSG00000079785 ENSE00000712808 NA NA NA NA NA NA NA 0.998606607070136 TRUE NA ENSE00000712808_001 ENSE00000712808 001 2 15769684 15769853 + 42 96 32 G A 15769694 174 11 ACATTATTTGTGAGCCTAACTCGAAGTCTTACCTGCATCTCGTTGTACCATATGGTACAGCCTCCATCTTCCTTGAGTCTTGTGTTATAACACCCTTTTCCACGGCTGCTACATACATGGTACCAAACCTAAATTTAAAAAGGAAAAAATATTAACATGTATGGAGATAG 15629559 15629729 15629569 15629570 15629570 upstr_intron -32 -0.738095238095238 CTATCTCCATACATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 1107 712 0.999962818582951 1 0.999981409291475 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00416786141640568 0.0171349401973868 NA 0.989330008484579 NA 0.0106514008068962 NA FALSE NA 0 -0.029 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA TGC G,A 8.238e-06 2:15629570 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 intron_variant 0.916489 0.21044 0.04387 0.322412 0.730239122297443 0.0682425 0.998606607070136 TRUE NA ENSE00000712808_002 ENSE00000712808 002 2 15769684 15769853 + 42 96 32 A C 15769701 175 18 CTATCTCCATGCATGTTCATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629576 15629577 15629577 upstr_intron -25 -0.571428571428571 CTATCTCCATGCATGTTCATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 45 562 1 0.987197355410092 0.993598677705046 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00420504283345513 0.00433229560747916 NA 0.989330008484579 NA 0.00426866922046715 NA FALSE NA 0 -1.156 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA TAA A,C 8.238e-06 2:15629577 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 intron_variant 1.376352 0.21459 0.0967 0.322412 0.818663972106464 0.0682425 0.998606607070136 TRUE 4.55506e-06 ENSE00000712808_003 ENSE00000712808 003 2 15769684 15769853 + 42 96 32 G A 15769725 176 42 ACATTATTTGTGAGCCTAACTCGAAGTCTTACCTGCATCTCGTTGTACCATATGGTACAGCCTCCATCTTCCTTGAGTCTTGTGTTATAACACCCTTTTCCACGGCTGCTACATACATGGTACCAAACTTAAATTTAAAAAGGAAAAAATATTAACATGCATGGAGATAG 15629559 15629729 15629600 15629601 15629601 upstr_intron -1 0 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAAGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 229 508 0 0 0 NA NA 0.995794957166545 0.982865059802613 NA NA -0.995794957166545 -0.982865059802613 NA 0.989330008484579 NA -0.989330008484579 NA TRUE NA 1 4.592 rs142551243 downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 rs142551243 1 NA A:0 A:0.0001 AGG G,A 8.237e-06 2:15629601 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 splice_acceptor_variant 5.685837 0.96589 0.87098 0.322412 0.995571979772352 0.987839 0.998606607070136 TRUE NA ENSE00000712808_005 ENSE00000712808 005 2 15769684 15769853 + 42 96 32 C T 15769750 178 67 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCTGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629625 15629626 15629626 exon 25 0.260416666666667 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCTGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 670 336 0.999445878146611 0.995815406009726 0.997630642078169 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00365092098006625 0.0129503462071129 NA 0.989330008484579 NA 0.00830063359358957 NA FALSE NA 1 2.847 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA CCG C,T 8.237e-06 2:15629626 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 missense_variant 8.300267 0.95537 0.89559 0.732398 0.999353476530617 0 0.998606607070136 TRUE 4.46417e-06 ENSE00000712808_006 ENSE00000712808 006 2 15769684 15769853 + 42 96 32 G A 15769751 179 68 ACATTATTTGTGAGCCTAACTCGAAGTCTTACCTGCATCTCGTTGTACCATATGGTACAGCCTCCATCTTCCTTGAGTCTTGTGTTATAACACCCTTTTCCATGGCTGCTACATACATGGTACCAAACCTAAATTTAAAAAGGAAAAAATATTAACATGCATGGAGATAG 15629559 15629729 15629626 15629627 15629627 exon 26 0.270833333333333 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCATGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 27 39 1 1 1 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00420504283345513 0.0171349401973868 NA 0.989330008484579 NA 0.010669991515421 NA FALSE NA 1 5.491 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA CGT G,A 4.942e-05 2:15629627 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 missense_variant 6.002186 0.96772 0.82903 0.732398 0.998861321243773 0 0.998606607070136 TRUE NA ENSE00000712808_007 ENSE00000712808 007 2 15769684 15769853 + 42 96 32 G A 15769760 180 77 ACATTATTTGTGAGCCTAACTCGAAGTCTTACCTGCATCTCGTTGTACCATATGGTACAGCCTCCATCTTCCTTGAGTCTTGTGTTATAACACTCTTTTCCACGGCTGCTACATACATGGTACCAAACCTAAATTTAAAAAGGAAAAAATATTAACATGCATGGAGATAG 15629559 15629729 15629635 15629636 15629636 exon 35 0.364583333333333 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGAGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 573 332 0.990432936337628 1 0.995216468168814 NA NA 0.995794957166545 0.982865059802613 NA NA -0.00536202082891712 0.0171349401973868 NA 0.989330008484579 NA 0.00588645968423485 NA FALSE NA 1 3.819 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA GGG G,A 8.236e-06 2:15629636 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 missense_variant 4.183247 0.97823 0.93173 0.732398 0.996024646486082 0 0.998606607070136 TRUE 4.46365e-06 ENSE00000712808_008 ENSE00000712808 008 2 15769684 15769853 + 42 96 32 T C 15769767 181 84 ACATTATTTGTGAGCCTAACTCGAAGTCTTACCTGCATCTCGTTGTACCATATGGTACAGCCTCCATCTTCCTTGAGTCTTGTGTTGTAACACCCTTTTCCACGGCTGCTACATACATGGTACCAAACCTAAATTTAAAAAGGAAAAAATATTAACATGCATGGAGATAG 15629559 15629729 15629642 15629643 15629643 exon 42 0.4375 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTACAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 78 103 0.988366081480631 1 0.994183040740316 NA NA 0.995794957166545 0.982865059802613 NA NA -0.00742887568591344 0.0171349401973868 NA 0.989330008484579 NA 0.00485303225573669 NA FALSE NA 0.018 -0.953 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA ATA T,C 8.236e-06 2:15629643 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 synonymous_variant -0.234682 0.64176 0.04885 0.732398 0.332095464872838 0 0.998606607070136 TRUE 8.91385e-06 ENSE00000712808_009 ENSE00000712808 009 2 15769684 15769853 + 42 96 32 A G 15769768 182 85 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATGACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629643 15629644 15629644 exon 43 0.447916666666667 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATGACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 642 167 1 1 1 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00420504283345513 0.0171349401973868 NA 0.989330008484579 NA 0.010669991515421 NA FALSE NA 1 7.232 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA TAA A,G 8.236e-06 2:15629644 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 missense_variant 5.466727 0.97172 0.96586 0.732398 0.997893820152628 0 0.998606607070136 TRUE 4.48414e-06 ENSE00000712808_010 ENSE00000712808 010 2 15769684 15769853 + 42 96 32 T G 15769778 183 95 ACATTATTTGTGAGCCTAACTCGAAGTCTTACCTGCATCTCGTTGTACCATATGGTACAGCCTCCATCTTCCTTGCGTCTTGTGTTATAACACCCTTTTCCACGGCTGCTACATACATGGTACCAAACCTAAATTTAAAAAGGAAAAAATATTAACATGCATGGAGATAG 15629559 15629729 15629653 15629654 15629654 exon -44 0.552083333333333 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACGCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 116 333 1 0.994073218979418 0.997036609489709 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00420504283345513 0.0112081591768045 NA 0.989330008484579 NA 0.00770660100512982 NA FALSE NA 1 7.773 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA CTC T,G 1.647e-05 2:15629654 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 missense_variant 5.345244 0.95774 0.97878 0.732398 0.997700658279734 0 0.998606607070136 TRUE 1.35228e-05 ENSE00000712808_011 ENSE00000712808 011 2 15769684 15769853 + 42 96 32 A C 15769787 184 104 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGCTGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629662 15629663 15629663 exon -35 0.645833333333333 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGCTGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 220 88 1 1 1 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00420504283345513 0.0171349401973868 NA 0.989330008484579 NA 0.010669991515421 NA FALSE NA 1 4.282 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:15629663 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 missense_variant 2.305177 0.9725 0.96641 0.732398 0.937019590284806 0 0.998606607070136 TRUE 2.68423e-05 ENSE00000712808_012 ENSE00000712808 012 2 15769684 15769853 + 42 96 32 A G 15769787 185 104 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGGTGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629662 15629663 15629663 exon -35 0.645833333333333 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGGTGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 748 382 0.991165120013607 0.996643114009632 0.993904117011619 NA NA 0.995794957166545 0.982865059802613 NA NA -0.00462983715293797 0.0137780542070187 NA 0.989330008484579 NA 0.00457410852704038 NA FALSE NA 1 4.282 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00000712808 missense_variant 3.269724 0.97222 0.94711 0.732398 0.990144678651266 0 0.454891016173085 FALSE 2.23686e-05 ENSE00000712808_013 ENSE00000712808 013 2 15769684 15769853 + 42 96 32 A T 15769787 186 104 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGTTGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629662 15629663 15629663 exon -35 0.645833333333333 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGTTGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 662 1255 0.999501614116178 0.997223272839706 0.998362443477942 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00370665694963324 0.0143582130370928 NA 0.989330008484579 NA 0.00903243499336304 NA FALSE NA 1 4.282 NA NA NA DDX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX1 NA NA NA ENSG00000079785 ENSE00000712808 missense_variant 2.998974 0.97226 0.93355 0.732398 0.971122829637283 0 0.998606607070136 TRUE 2.23686e-05 ENSE00000712808_014 ENSE00000712808 014 2 15769684 15769853 + 42 96 32 T C 15769797 187 114 ACATTATTTGTGAGCCTAACTCGAAGTCTTACCTGCATCTCGTTGTACCATATGGTGCAGCCTCCATCTTCCTTGAGTCTTGTGTTATAACACCCTTTTCCACGGCTGCTACATACATGGTACCAAACCTAAATTTAAAAAGGAAAAAATATTAACATGCATGGAGATAG 15629559 15629729 15629672 15629673 15629673 exon -25 0.75 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGCACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 97 508 0.966804316422435 1 0.983402158211218 NA NA 0.995794957166545 0.982865059802613 NA NA -0.0289906407441098 0.0171349401973868 NA 0.989330008484579 NA -0.00592785027336151 NA FALSE NA 0.71 -0.307 rs80285206 downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 rs80285206 1 C:0.0048 C:0.0174 C:0.0014 NA C:0 C:0 C:0 C:0.0236 C:0 GTA T,C 0.002026 2:15629673 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 synonymous_variant 0.226266 0.90718 0.27517 0.732398 0.594587653812905 0 0.998606607070136 TRUE 0.00155964 ENSE00000712808_015 ENSE00000712808 015 2 15769684 15769853 + 42 96 32 C G 15769800 188 117 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACGATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629675 15629676 15629676 exon -22 0.78125 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACGATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 2059 590 0.99874640744435 0.998830426458708 0.998788416951529 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00295145027780519 0.0159653666560948 NA 0.989330008484579 NA 0.00945840846695001 NA FALSE NA 0.997 0.472 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA CCA C,G 8.236e-06 2:15629676 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 synonymous_variant 1.40916 0.93603 0.93211 0.732398 0.661886116517516 0 0.998606607070136 TRUE 4.68252e-06 ENSE00000712808_016 ENSE00000712808 016 2 15769684 15769853 + 42 96 32 C T 15769812 189 129 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAATGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629687 15629688 15629688 exon -10 0.90625 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAATGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 239 920 1 0.999786626258473 0.999893313129236 NA NA 0.995794957166545 0.982865059802613 NA NA 0.00420504283345513 0.0169215664558598 NA 0.989330008484579 NA 0.0105633046446575 NA FALSE NA 0.031 -1.288 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 rs371305987&COSM1400247 1 NA T:0.0002 T:0 ACG C,T 2.471e-05 2:15629688 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 synonymous_variant 1.979438 0.34018 0.03862 0.706548 0.729443214976242 0 0.998606607070136 TRUE 1.94934e-05 ENSE00000712808_018 ENSE00000712808 018 2 15769684 15769853 + 42 96 32 C T 15769831 191 148 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTTGAGTTAGGCTCACAAATAATGT 15629559 15629729 15629706 15629707 15629707 downstr_intron 10 1.32258064516129 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTTGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 128 105 0.978995899583509 0.987911730706721 0.983453815145115 NA NA 0.995794957166545 0.982865059802613 NA NA -0.0167990575830355 0.00504667090410793 NA 0.989330008484579 NA -0.00587619333946376 NA FALSE NA 0 -5.33 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA TCG T,T 2.471e-05 2:15629707 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 intron_variant -0.798116 0.07969 0.00621 0.099367 0.48138170793738 0.12107 0.998606607070136 TRUE 1.55699e-05 ENSE00000712808_019 ENSE00000712808 019 2 15769684 15769853 + 42 96 32 G C 15769834 192 151 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGACTTAGGCTCACAAATAATGT 15629559 15629729 15629709 15629710 15629710 downstr_intron 13 1.41935483870968 CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGACTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT mutant NA NA NA NA NA 1143 1637 0.993298817710765 0.999158659601633 0.996228738656199 NA NA 0.995794957166545 0.982865059802613 NA NA -0.00249613945577953 0.0162935997990196 NA 0.989330008484579 NA 0.00689873017162002 NA FALSE NA 0.001 -0.227 . downstream_gene_variant MODIFIER DDX1 HGNC 2734 ENST00000478695 1 NA AGT G,C 8.237e-06 2:15629710 DDX1 HGNC Symbol protein_coding 39933 ENSG00000079785 ENSE00000712808 intron_variant -0.925555 0.15531 0.02871 0.099367 0.250739737079316 0.12107 0.998606607070136 TRUE 5.18855e-06 ENSE00000712808_BRK ENSE00000712808 BRK 2 15769684 15769853 + 42 96 32 A,G; T,T NA NA NA CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTTTGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGCCAAGACTTCGAGTTAGGCTCACAAATAATGT 15629559 15629729 NA NA NA NA NA NA CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTTTGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGCCAAGACTTCGAGTTAGGCTCACAAATAATGT CTATCTCCATGCATGTTAATATTTTTTCCTTTTTAAATTTAGGTTTGGTACCATGTATGTAGCAGCCGTGGAAAAGGGTGTTATAACACAAGACTCAAGGAAGATGGAGGCTGTACCATATGGTACAACGAGATGCAGGTAAGACTTCGAGTTAGGCTCACAAATAATGT control NA NA NA NA NA 571 242 0 0.0135467676218836 0.00677338381094181 NA NA 0.995794957166545 0.982865059802613 NA NA -0.995794957166545 -0.96931829218073 NA 0.989330008484579 NA -0.982556624673637 NA TRUE NA NA NA NA NA NA DDX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX1 NA NA NA ENSG00000079785 ENSE00000712808 NA NA NA NA NA NA NA 0.998606607070136 TRUE NA ENSE00000713116_000 ENSE00000713116 000 12 2909157 2909326 + 48 84 38 NA NA NA NA NA TCCTGGGAGTGTCCTTAGGACAATGACTGTTGGCTCACCTTGAAGTACACAGTGCCCCGCTCTTTCACTATGGTGCTCTGTTCCAGCTTCTCTTCTGAATTCATCTCCCAAGACTCCTTGGCCTGCCACACCCCAGGAGAGAAACAAAGTTGTCAGCTACCCCAGAGTCA 2799990 2800160 NA NA NA NA NA NA TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA natural NA NA NA NA NA 687 315 0.997163659655231 0.97201959242559 0.98459162604041 NA NA 0.997163659655231 0.97201959242559 NA NA 0 0 NA 0.98459162604041 NA 0 NA FALSE NA NA NA NA NA NA FKBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FKBP4 NA NA NA ENSG00000004478 ENSE00003463512 NA NA NA NA NA NA NA 0.927473130653813 TRUE NA ENSE00000713546_000 ENSE00000713546 000 17 31342944 31343113 - 45 69 56 NA NA NA NA NA TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 NA NA NA NA NA NA TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT natural 25 15 0.970871897852204 1 0.985435948926102 1125 1251 0.895134557719932 0.807082819474461 0.851108688597197 0.970871897852204 1 0.895134557719932 0.807082819474461 0 0 0 0 0.985435948926102 0.851108688597197 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASIC2 NA NA NA ENSG00000108684 ENSE00000713546 NA NA NA NA NA NA NA 0.989195648597493 TRUE NA ENSE00000713546_005 ENSE00000713546 005 17 31342944 31343113 - 45 69 56 T C 31342975 1409 139 TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCGCTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 33015956 33015957 33015957 downstr_intron 14 1.31818181818182 TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCGCTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT mutant NA NA NA NA NA 213 211 0.994925029874317 1 0.997462514937159 0.970871897852204 1 0.895134557719932 0.807082819474461 NA NA 0.0997904721543853 0.192917180525539 0.985435948926102 0.851108688597197 NA 0.146353826339962 NA FALSE NA 0 -2.829 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:33015957 ASIC2 HGNC Symbol protein_coding 1161877 ENSG00000108684 ENSE00000713546 intron_variant -0.430405 0.20142 0.01348 0.056701 0.423637391373928 0.0598419 0.989195648597493 TRUE 4.0622e-05 ENSE00000713546_006 ENSE00000713546 006 17 31342944 31343113 - 45 69 56 T A 31342975 1410 139 TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCTCTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 33015956 33015957 33015957 downstr_intron 14 1.31818181818182 TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCTCTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT mutant NA NA NA NA NA 67 146 1 1 1 0.970871897852204 1 0.895134557719932 0.807082819474461 NA NA 0.104865442280068 0.192917180525539 0.985435948926102 0.851108688597197 NA 0.148891311402803 NA FALSE NA 0 -2.829 NA NA NA ASIC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASIC2 NA NA NA ENSG00000108684 ENSE00000713546 intron_variant 0.076947 0.2089 0.01488 0.056701 0.655663432449062 0.0598419 0.989195648597493 TRUE 4.0622e-06 ENSE00000713546_022 ENSE00000713546 022 17 31342944 31343113 - 45 69 56 G A 31343060 1426 54 TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGTAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 33016041 33016042 33016042 upstr_intron -3 -0.0357142857142857 TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGTAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT mutant NA NA NA NA NA 349 201 0.994159084425773 0.998083863135009 0.996121473780391 0.970871897852204 1 0.895134557719932 0.807082819474461 NA NA 0.0990245267058409 0.191001043660548 0.985435948926102 0.851108688597197 NA 0.145012785183194 NA FALSE NA 1 5.889 . splice_region_variant&intron_variant LOW ASIC2 HGNC 99 ENST00000225823 8/9 1 NA TGC G,A 1.647e-05 17:33016042 ASIC2 HGNC Symbol protein_coding 1161877 ENSG00000108684 ENSE00000713546 splice_region_variant 2.230847 0.83513 0.83644 0.056701 0.970052253111023 0.325991 0.989195648597493 TRUE 8.12216e-06 ENSE00000713546_025 ENSE00000713546 025 17 31342944 31343113 - 45 69 56 C G 31343085 1429 29 TTCTGCCTCTGCACCCTCTTCCCGGCCTCACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 33016066 33016067 33016067 upstr_intron -28 -0.482142857142857 TTCTGCCTCTGCACCCTCTTCCCGGCCTCACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT mutant NA NA NA NA NA 129 66 1 1 1 0.970871897852204 1 0.895134557719932 0.807082819474461 NA NA 0.104865442280068 0.192917180525539 0.985435948926102 0.851108688597197 NA 0.148891311402803 NA FALSE NA 0.004 -0.185 . intron_variant MODIFIER ASIC2 HGNC 99 ENST00000225823 8/9 1 NA TCA C,G 8.236e-06 17:33016067 ASIC2 HGNC Symbol protein_coding 1161877 ENSG00000108684 ENSE00000713546 intron_variant 1.324849 0.62584 0.18264 0.056701 0.778613337539502 0.143874 0.989195648597493 TRUE 4.06511e-06 ENSE00000713546_026 ENSE00000713546 026 17 31342944 31343113 - 45 69 56 C T 31343090 1430 24 TTCTGCCTCTGCACCCTCTTCCCAGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 33016071 33016072 33016072 upstr_intron -33 -0.571428571428571 TTCTGCCTCTGCACCCTCTTCCCAGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT mutant NA NA NA NA NA 233 177 1 1 1 0.970871897852204 1 0.895134557719932 0.807082819474461 NA NA 0.104865442280068 0.192917180525539 0.985435948926102 0.851108688597197 NA 0.148891311402803 NA FALSE NA 0 -0.605 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:33016072 ASIC2 HGNC Symbol protein_coding 1161877 ENSG00000108684 ENSE00000713546 intron_variant 0.315942 0.16394 0.01072 0.056701 0.477323719306935 0.0533476 0.989195648597493 TRUE 0.000264445 ENSE00000713546_027 ENSE00000713546 027 17 31342944 31343113 - 45 69 56 C A 31343090 1431 24 TTCTGCCTCTGCACCCTCTTCCCTGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 33016071 33016072 33016072 upstr_intron -33 -0.571428571428571 TTCTGCCTCTGCACCCTCTTCCCTGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT mutant NA NA NA NA NA 10 314 1 0.999513722231754 0.999756861115877 0.970871897852204 1 0.895134557719932 0.807082819474461 NA NA 0.104865442280068 0.192430902757292 0.985435948926102 0.851108688597197 NA 0.14864817251868 NA FALSE NA 0 -0.605 NA NA NA ASIC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASIC2 NA NA NA ENSG00000108684 ENSE00000713546 intron_variant 0.328933 0.15588 0.01727 0.056701 0.642898047060266 0.0533476 0.989195648597493 TRUE 1.62735e-05 ENSE00000713546_029 ENSE00000713546 029 17 31342944 31343113 - 45 69 56 G A 31343093 1433 21 TTCTGCCTCTGCACCCTCTTTCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 33016074 33016075 33016075 upstr_intron -36 -0.625 TTCTGCCTCTGCACCCTCTTTCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT mutant NA NA NA NA NA 167 1429 0.852809740482238 1 0.926404870241119 0.970871897852204 1 0.895134557719932 0.807082819474461 NA NA -0.0423248172376937 0.192917180525539 0.985435948926102 0.851108688597197 NA 0.0752961816439224 NA FALSE NA 0.027 2.24 . intron_variant MODIFIER ASIC2 HGNC 99 ENST00000225823 8/9 1 NA GGA G,A 8.236e-06 17:33016075 ASIC2 HGNC Symbol protein_coding 1161877 ENSG00000108684 ENSE00000713546 intron_variant 0.21732 0.19462 0.1367 0.056701 0.710478277515608 0.0533476 0.989195648597493 TRUE 8.13868e-06 ENSE00000713546_030 ENSE00000713546 030 17 31342944 31343113 - 45 69 56 G T 31343099 1434 15 TTCTGCCTCTGCACACTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT 33015925 33016095 33016080 33016081 33016081 upstr_intron -42 -0.732142857142857 TTCTGCCTCTGCACACTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT TTCTGCCTCTGCACCCTCTTCCCGGCCTGACCAACCCCTTCCTGCTTTTCTTGCAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGATGAGAATGTGGTAAGAGCAGCTCACTGATTGGAAGTTGTTCTGCTGCTCTGGCTT mutant NA NA NA NA NA 1868 29 0.957737395515439 1 0.978868697757719 0.970871897852204 1 0.895134557719932 0.807082819474461 NA NA 0.0626028377955069 0.192917180525539 0.985435948926102 0.851108688597197 NA 0.127760009160523 NA FALSE NA 0.089 1.33 . intron_variant MODIFIER ASIC2 HGNC 99 ENST00000225823 8/9 1 NA GGG G,T 8.236e-06 17:33016081 ASIC2 HGNC Symbol protein_coding 1161877 ENSG00000108684 ENSE00000713546 intron_variant -0.051871 0.2142 0.23548 0.056701 0.604119076998105 0.0512151 0.989195648597493 TRUE 2.44672e-05 ENSE00000713716_000 ENSE00000713716 000 12 3388105 3388274 + 53 75 42 NA NA NA NA NA GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 NA NA NA NA NA NA GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG natural 93 18 0.973920213436287 0.979587250979251 0.976753732207769 1605 1102 0.98605528013606 0.965312868496711 0.975684074316386 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 0 0 0 0 0.976753732207769 0.975684074316386 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN9 NA NA NA ENSG00000011105 ENSE00003506448 NA NA NA NA NA NA NA 0.779777700780573 FALSE NA ENSE00000713716_003 ENSE00000713716 003 12 3388105 3388274 + 53 75 42 A G 3388127 191 23 GTCCTCAGCCCTGCCCATTACCGCCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3278960 3278961 3278961 upstr_intron -31 -0.566037735849057 GTCCTCAGCCCTGCCCATTACCGCCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 406 2801 1 0.994016659254978 0.997008329627489 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA 0.0139447198639397 0.0287037907582668 0.976753732207769 0.975684074316386 NA 0.0213242553111033 NA FALSE NA 0 -0.172 . intron_variant MODIFIER TSPAN9 HGNC 21640 ENST00000407263 2/5 1 NA CAC A,G 8.236e-06 12:3278961 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 intron_variant 0.585694 0.17592 0.03271 0.056701 0.606956181879832 0.0470398 0.779777700780573 FALSE 4.06316e-06 ENSE00000713716_006 ENSE00000713716 006 12 3388105 3388274 + 53 75 42 C T 3388166 194 62 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATTGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3278999 3279000 3279000 exon 9 0.12 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATTGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant 136 301 0.837813532760339 0.85 0.843906766380169 102 12 0.8 1 0.9 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 -0.136106680675948 -0.129587250979251 -0.18605528013606 0.0346871315032891 0.976753732207769 0.975684074316386 -0.132846965827599 -0.0756840743163856 0.0571628915112139 FALSE FALSE 0.14 -0.312 . synonymous_variant LOW TSPAN9 HGNC 21640 ENST00000407263 3/6 rs571507809 1 NA TCG C,T 8.236e-06 12:3279000 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 synonymous_variant 2.239497 0.95538 0.20096 0.695654 0.765900335858559 0 0.779777700780573 FALSE 4.06095e-06 ENSE00000713716_008 ENSE00000713716 008 12 3388105 3388274 + 53 75 42 T C 3388173 196 69 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGCTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3279006 3279007 3279007 exon 16 0.213333333333333 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGCTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 80 117 0.999484444126771 0.981887558085282 0.990686001106026 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA 0.0134291639907104 0.0165746895885712 0.976753732207769 0.975684074316386 NA 0.0150019267896408 NA FALSE NA 1 0.768 . synonymous_variant LOW TSPAN9 HGNC 21640 ENST00000407263 3/6 1 NA GTT T,C 8.236e-06 12:3279007 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 synonymous_variant -0.279245 0.96163 0.54001 0.695654 0.72830928207193 0 0.779777700780573 FALSE 4.06091e-06 ENSE00000713716_010 ENSE00000713716 010 12 3388105 3388274 + 53 75 42 G T 3388188 198 84 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTATCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3279021 3279022 3279022 exon 31 0.413333333333333 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTATCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 30 108 1 0.998532790922988 0.999266395461494 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA 0.0139447198639397 0.033219922426277 0.976753732207769 0.975684074316386 NA 0.0235823211451084 NA FALSE NA 1 6.545 . missense_variant MODERATE TSPAN9 HGNC 21640 ENST00000407263 3/6 1 tolerated(0.14) possibly_damaging(0.803) NA AGC G,T 8.236e-06 12:3279022 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 missense_variant 2.532536 0.98442 0.98053 0.695654 0.994737429542672 0 0.779777700780573 FALSE NA ENSE00000713716_011 ENSE00000713716 011 12 3388105 3388274 + 53 75 42 C A 3388203 199 99 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTAATCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3279036 3279037 3279037 exon -30 0.613333333333333 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTAATCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 225 79 0.999449992459144 1 0.999724996229572 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA 0.0133947123230841 0.0346871315032891 0.976753732207769 0.975684074316386 NA 0.0240409219131866 NA FALSE NA 0.998 2.664 . missense_variant MODERATE TSPAN9 HGNC 21640 ENST00000407263 3/6 1 tolerated(0.87) benign(0.327) NA ACT C,A 8.236e-06 12:3279037 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 missense_variant 1.227485 0.97442 0.91302 0.712529 0.92334686429357 0 0.779777700780573 FALSE 8.12156e-06 ENSE00000713716_012 ENSE00000713716 012 12 3388105 3388274 + 53 75 42 C T 3388205 200 101 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTTATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3279038 3279039 3279039 exon -28 0.64 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTTATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 82 16 1 0.989984547956536 0.994992273978268 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA 0.0139447198639397 0.0246716794598247 0.976753732207769 0.975684074316386 NA 0.0193081996618822 NA FALSE NA 0.009 -0.93 . synonymous_variant LOW TSPAN9 HGNC 21640 ENST00000407263 3/6 COSM3811896 1 NA TCA C,T 8.236e-06 12:3279039 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 synonymous_variant 1.627722 0.96343 0.18504 0.712529 0.724820620550082 0 0.779777700780573 FALSE 4.06075e-06 ENSE00000713716_014 ENSE00000713716 014 12 3388105 3388274 + 53 75 42 C A 3388211 202 107 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTATTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3279044 3279045 3279045 exon -22 0.72 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTATTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 1128 18 0.914752677621839 1 0.957376338810919 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA -0.0713026025142217 0.0346871315032891 0.976753732207769 0.975684074316386 NA -0.0183077355054663 NA FALSE NA 1 1.265 rs150213773 synonymous_variant LOW TSPAN9 HGNC 21640 ENST00000407263 3/6 rs150213773 1 NA A:0.0002 A:0 TCT C,A 3.295e-05 12:3279045 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 synonymous_variant 2.178849 0.9598 0.81131 0.712529 0.784140805627994 0 0.779777700780573 FALSE 1.62431e-05 ENSE00000713716_016 ENSE00000713716 016 12 3388105 3388274 + 53 75 42 A T 3388222 204 118 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTTCATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3279055 3279056 3279056 exon -11 0.866666666666667 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTTCATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 168 200 1 0.997290733759527 0.998645366879763 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA 0.0139447198639397 0.0319778652628158 0.976753732207769 0.975684074316386 NA 0.0229612925633778 NA FALSE NA 1 9.284 . missense_variant MODERATE TSPAN9 HGNC 21640 ENST00000407263 3/6 1 tolerated(0.09) probably_damaging(0.999) NA TAC A,T 5.765e-05 12:3279056 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 missense_variant 4.698945 0.99321 0.99376 0.712529 0.986130777494217 0 0.779777700780573 FALSE 5.68533e-05 ENSE00000713716_017 ENSE00000713716 017 12 3388105 3388274 + 53 75 42 A G 3388224 205 120 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACGTGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 3279057 3279058 3279058 exon -9 0.893333333333333 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACGTGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 342 42 1 0.956177827534337 0.978088913767169 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA 0.0139447198639397 -0.00913504096237361 0.976753732207769 0.975684074316386 NA 0.00240483945078307 NA FALSE NA 1 2.653 . missense_variant MODERATE TSPAN9 HGNC 21640 ENST00000407263 3/6 1 tolerated(0.17) benign(0.063) NA CAT A,G 8.236e-06 12:3279058 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 missense_variant 1.806687 0.98247 0.9423 0.712529 0.96559325390342 0 0.779777700780573 FALSE 4.06088e-06 ENSE00000713716_026 ENSE00000713716 026 12 3388105 3388274 + 53 75 42 T C 3388260 214 156 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCACATGGAATGTCACTG 3278938 3279108 3279093 3279094 3279094 downstr_intron 28 1.68292682926829 GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCACATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG mutant NA NA NA NA NA 182 24 0.999156952667535 1 0.999578476333768 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA 0.0131016725314751 0.0346871315032891 0.976753732207769 0.975684074316386 NA 0.0238944020173821 NA FALSE NA 0 -1.932 . intron_variant MODIFIER TSPAN9 HGNC 21640 ENST00000407263 3/5 1 NA ATA T,C 8.236e-06 12:3279094 TSPAN9 HGNC Symbol protein_coding 209209 ENSG00000011105 ENSE00003506448 intron_variant -0.078846 0.13013 0.02016 0.056701 0.635341499349635 0.046847 0.779777700780573 FALSE 8.12711e-06 ENSE00000713716_BRK ENSE00000713716 BRK 12 3388105 3388274 + 53 75 42 A,G; T,T NA NA NA GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCTTTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGCCAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG 3278938 3279108 NA NA NA NA NA NA GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCTTTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGCCAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG GTCCTCAGCCCTGCCCATTACCACCTACCCATGCCTGGCCCTTTCCTTTCCAGTTTTTCATCGTCCTGTTGGTCATCCTCCTAGCAGAGCTGATCTTACTCATCCTCTTCTTTGTCTACATGGACAAGGTAAGCCTTACCAGATGGGAGGGGGCATATGGAATGTCACTG control NA NA NA NA NA 30 132 0 0 0 0.973920213436287 0.979587250979251 0.98605528013606 0.965312868496711 NA NA -0.98605528013606 -0.965312868496711 0.976753732207769 0.975684074316386 NA -0.975684074316386 NA TRUE NA NA NA NA NA NA TSPAN9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN9 NA NA NA ENSG00000011105 ENSE00003506448 NA NA NA NA NA NA NA 0.779777700780573 FALSE NA ENSE00000714213_000 ENSE00000714213 000 12 4747235 4747404 - 32 96 42 NA NA NA NA NA CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 NA NA NA NA NA NA CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT natural 257 271 0.996987200813391 0.99869466900165 0.99784093490752 4810 5288 0.987601890656931 0.924418122547092 0.956010006602011 0.996987200813391 0.99869466900165 0.987601890656931 0.924418122547092 0 0 0 0 0.99784093490752 0.956010006602011 0 0 0 FALSE FALSE NA NA NA NA NA AKAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AKAP3 NA NA NA ENSG00000111254 ENSE00003758822 NA NA NA NA NA NA NA 0.0263329788992228 FALSE NA ENSE00000714213_BRK ENSE00000714213 BRK 12 4747235 4747404 - 32 96 42 A,G; T,T NA NA NA CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCTTATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGCCAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 NA NA NA NA NA NA CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCTTATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGCCAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT control 24 20 0 0 0 346 381 0.0483698345414065 0 0.0241849172707033 0.996987200813391 0.99869466900165 0.987601890656931 0.924418122547092 -0.996987200813391 -0.99869466900165 -0.939232056115524 -0.924418122547092 0.99784093490752 0.956010006602011 -0.99784093490752 -0.931825089331308 0.0660158455762123 TRUE TRUE NA NA NA NA NA AKAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AKAP3 NA NA NA ENSG00000111254 ENSE00003758822 NA NA NA NA NA NA NA 0.0263329788992228 FALSE NA ENSE00000714319_000 ENSE00000714319 000 19 47200373 47200542 - 41 78 51 NA NA NA NA NA ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 NA NA NA NA NA NA ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT natural NA NA NA NA NA 3204 2272 0.955265775049193 0.926666060017648 0.94096591753342 NA NA 0.955265775049193 0.926666060017648 NA NA 0 0 NA 0.94096591753342 NA 0 NA FALSE NA NA NA NA NA NA PRKD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKD2 NA NA NA ENSG00000105287 ENSE00000714319 NA NA NA NA NA NA NA 0.9996964074254 TRUE NA ENSE00000714319_001 ENSE00000714319 001 19 47200373 47200542 - 41 78 51 G A 47200383 2732 160 ACAGCGGGAAATCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697125 46697126 46697126 downstr_intron 31 1.775 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGATTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 686 629 1 1 1 NA NA 0.955265775049193 0.926666060017648 NA NA 0.044734224950807 0.073333939982352 NA 0.94096591753342 NA 0.0590340824665795 NA FALSE NA 0 -0.667 . intron_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/9 1 NA AGT G,A 1.647e-05 19:46697126 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 intron_variant 0.535909 0.3852 0.03498 0.256867 0.776067392281962 0.0887425 0.9996964074254 TRUE 8.1275e-06 ENSE00000714319_002 ENSE00000714319 002 19 47200373 47200542 - 41 78 51 C G 47200385 2733 158 ACAGCGGGAAGTGCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697127 46697128 46697128 downstr_intron 29 1.725 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGCACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 1152 1381 0.954917786874985 0.999446940524916 0.977182363699951 NA NA 0.955265775049193 0.926666060017648 NA NA -0.000347988174207559 0.0727808805072683 NA 0.94096591753342 NA 0.0362164461665304 NA FALSE NA 0 -1.014 . intron_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/9 rs369105987 1 NA G:0 G:0.0001 TCC C,G 8.237e-06 19:46697128 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 intron_variant 0.350584 0.29962 0.12746 0.256867 0.50615183662324 0.0887425 0.9996964074254 TRUE 4.06362e-06 ENSE00000714319_003 ENSE00000714319 003 19 47200373 47200542 - 41 78 51 G C 47200389 2734 154 ACAGCGGGAAGTCCGACGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697131 46697132 46697132 downstr_intron 25 1.625 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCGTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 335 447 0.996320049722136 1 0.998160024861068 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0410542746729428 0.073333939982352 NA 0.94096591753342 NA 0.0571941073276474 NA FALSE NA 0 0.028 . intron_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/9 1 NA AGG G,C 8.237e-06 19:46697132 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 intron_variant 0.105263 0.32835 0.17562 0.256867 0.570565337403427 0.0699265 0.9996964074254 TRUE 4.06332e-06 ENSE00000714319_005 ENSE00000714319 005 19 47200373 47200542 - 41 78 51 C T 47200401 2736 142 ACAGCGGGAAGTCCGAGGGAGCTGAAAGTCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697143 46697144 46697144 downstr_intron 13 1.325 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGACTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 1105 194 0.951285295287552 1 0.975642647643776 NA NA 0.955265775049193 0.926666060017648 NA NA -0.00398047976164106 0.073333939982352 NA 0.94096591753342 NA 0.0346767301103555 NA FALSE NA 0 -0.158 . intron_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/9 1 NA GCC C,T 8.236e-06 19:46697144 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 intron_variant 0.526429 0.21436 0.07755 0.256867 0.696744377750249 0.0697987 0.9996964074254 TRUE 4.0627e-06 ENSE00000714319_006 ENSE00000714319 006 19 47200373 47200542 - 41 78 51 A G 47200417 2737 126 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTGTAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697159 46697160 46697160 exon -4 0.961538461538462 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTACAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 2425 174 0.999131276355669 0.999120303920314 0.999125790137992 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0438655013064764 0.0724542439026665 NA 0.94096591753342 NA 0.0581598726045714 NA FALSE NA 1 1.465 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA TAT A,G 8.236e-06 19:46697160 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 synonymous_variant 0.369204 0.91976 0.1782 0.730579 0.860203982757285 0 0.9996964074254 TRUE 4.0624e-06 ENSE00000714319_007 ENSE00000714319 007 19 47200373 47200542 - 41 78 51 T C 47200421 2738 122 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGCATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697163 46697164 46697164 exon -8 0.91025641025641 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATGCTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 235 183 0.999824747837357 1 0.999912373918678 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0445589727881637 0.073333939982352 NA 0.94096591753342 NA 0.0589464563852579 NA FALSE NA 1 6.124 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA GTA T,C 8.236e-06 19:46697164 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 missense_variant 3.426055 0.9447 0.90711 0.730579 0.991166473176232 0 0.9996964074254 TRUE 4.06342e-06 ENSE00000714319_008 ENSE00000714319 008 19 47200373 47200542 - 41 78 51 G C 47200426 2739 117 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTCTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697168 46697169 46697169 exon -13 0.846153846153846 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAAGAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 12 541 1 0.941415575555814 0.970707787777907 NA NA 0.955265775049193 0.926666060017648 NA NA 0.044734224950807 0.0147495155381663 NA 0.94096591753342 NA 0.0297418702444867 NA FALSE NA 0.972 1.953 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA TGT G,C 8.236e-06 19:46697169 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 missense_variant 3.607008 0.94586 0.87151 0.730579 0.992142526158979 0 0.9996964074254 TRUE 4.06306e-06 ENSE00000714319_009 ENSE00000714319 009 19 47200373 47200542 - 41 78 51 G A 47200433 2740 110 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCATGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697175 46697176 46697176 exon -20 0.756410256410256 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACATGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 215 167 0.999286491503679 1 0.999643245751839 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0440207164544856 0.073333939982352 NA 0.94096591753342 NA 0.0586773282184188 NA FALSE NA 0.988 5.336 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA CGT G,A 3.295e-05 19:46697176 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 missense_variant 6.606325 0.94326 0.89371 0.730579 0.998775302693665 0 0.9996964074254 TRUE 3.25084e-05 ENSE00000714319_010 ENSE00000714319 010 19 47200373 47200542 - 41 78 51 C G 47200441 2741 102 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTGTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697183 46697184 46697184 exon -28 0.653846153846154 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCACAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 440 294 0.996197634405665 1 0.998098817202832 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0409318593564719 0.073333939982352 NA 0.94096591753342 NA 0.057132899669412 NA FALSE NA 1 3.116 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA TCT C,G 8.236e-06 19:46697184 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 missense_variant 5.074625 0.94645 0.82698 0.730579 0.992938086588407 0 0.9996964074254 TRUE 8.12856e-06 ENSE00000714319_011 ENSE00000714319 011 19 47200373 47200542 - 41 78 51 T A 47200442 2742 101 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCAGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697184 46697185 46697185 exon -29 0.641025641025641 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCTGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 230 238 0.999820935074642 0.92151508282887 0.960668008951756 NA NA 0.955265775049193 0.926666060017648 NA NA 0.044555160025449 -0.00515097718877799 NA 0.94096591753342 NA 0.0197020914183355 NA FALSE NA 1 7.839 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:46697185 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 missense_variant 3.520619 0.94632 0.94257 0.730579 0.989025573364048 0 0.9996964074254 TRUE 4.06451e-05 ENSE00000714319_012 ENSE00000714319 012 19 47200373 47200542 - 41 78 51 T C 47200442 2743 101 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCCGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697184 46697185 46697185 exon -29 0.641025641025641 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCGGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 74 684 0.997358435601864 0.998822962139136 0.9980906988705 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0420926605526714 0.0721569021214882 NA 0.94096591753342 NA 0.0571247813370798 NA FALSE NA 1 7.839 NA NA NA PRKD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKD2 NA NA NA ENSG00000105287 ENSE00000714319 missense_variant 4.025904 0.94656 0.93902 0.730579 0.992977938949155 0 0.9996964074254 TRUE 4.06451e-06 ENSE00000714319_014 ENSE00000714319 014 19 47200373 47200542 - 41 78 51 C T 47200450 2745 93 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGTGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697192 46697193 46697193 exon -37 0.538461538461538 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACACTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 230 146 0.991274957735626 1 0.995637478867813 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0360091826864334 0.073333939982352 NA 0.94096591753342 NA 0.0546715613343927 NA FALSE NA 0 -3.297 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 rs377275428 1 NA T:0 T:0.0002 GCG C,T 8.236e-06 19:46697193 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 synonymous_variant 2.05928 0.85154 0.10557 0.730579 0.922372803067308 0 0.9996964074254 TRUE 8.13359e-06 ENSE00000714319_015 ENSE00000714319 015 19 47200373 47200542 - 41 78 51 C T 47200457 2746 86 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATATACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697199 46697200 46697200 exon 35 0.448717948717949 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTATATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 1229 478 0.999362037078078 1 0.999681018539039 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0440962620288855 0.073333939982352 NA 0.94096591753342 NA 0.0587151010056188 NA FALSE NA 1 5.88 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA ACA C,T 8.236e-06 19:46697200 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 missense_variant 6.73543 0.96892 0.93308 0.730579 0.996197610875291 0 0.9996964074254 TRUE NA ENSE00000714319_016 ENSE00000714319 016 19 47200373 47200542 - 41 78 51 G A 47200470 2747 73 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAAGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697212 46697213 46697213 exon 22 0.282051282051282 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCTTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 80 556 0.998078916589729 0.993935352921459 0.996007134755594 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0428131415405356 0.0672692929038107 NA 0.94096591753342 NA 0.0550412172221731 NA FALSE NA 1 7.823 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA AGG G,A 1.647e-05 19:46697213 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 synonymous_variant 1.618182 0.95526 0.93993 0.730579 0.952929196847872 0 0.9996964074254 TRUE 2.44361e-05 ENSE00000714319_017 ENSE00000714319 017 19 47200373 47200542 - 41 78 51 A G 47200477 2748 66 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAGTAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697219 46697220 46697220 exon 15 0.192307692307692 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTACTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 44 1490 1 0.949500711432093 0.974750355716047 NA NA 0.955265775049193 0.926666060017648 NA NA 0.044734224950807 0.0228346514144453 NA 0.94096591753342 NA 0.0337844381826262 NA FALSE NA 1 0.876 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA AAT A,G 8.236e-06 19:46697220 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 synonymous_variant 0.623538 0.89422 0.22414 0.730579 0.861251725774278 0 0.9996964074254 TRUE 2.0382e-05 ENSE00000714319_018 ENSE00000714319 018 19 47200373 47200542 - 41 78 51 T A 47200478 2749 65 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAAAAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697220 46697221 46697221 exon 14 0.179487179487179 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTTTTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 154 19 0.974698730523577 0.991583544458066 0.983141137490822 NA NA 0.955265775049193 0.926666060017648 NA NA 0.019432955474384 0.0649174844404182 NA 0.94096591753342 NA 0.0421752199574011 NA FALSE NA 1 3.931 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA ATA T,A 8.236e-06 19:46697221 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 missense_variant 3.69681 0.93266 0.86374 0.730579 0.982209374922601 0 0.9996964074254 TRUE 4.07807e-06 ENSE00000714319_019 ENSE00000714319 019 19 47200373 47200542 - 41 78 51 G A 47200480 2750 63 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAATGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697222 46697223 46697223 exon 12 0.153846153846154 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCATTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 466 1138 0.999202469421725 0.999721951216326 0.999462210319025 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0439366943725321 0.0730558911986776 NA 0.94096591753342 NA 0.0584962927856049 NA FALSE NA 0.878 0.5 rs143670757 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 rs143670757 1 NA A:0.0007 A:0 AGT G,A 4.942e-05 19:46697223 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 synonymous_variant 1.040062 0.92434 0.63387 0.730579 0.939723991818927 0 0.9996964074254 TRUE 3.67071e-05 ENSE00000714319_020 ENSE00000714319 020 19 47200373 47200542 - 41 78 51 T C 47200489 2751 54 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTCCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697231 46697232 46697232 exon 3 0.0384615384615385 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGGAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 230 103 0.995977967802209 1 0.997988983901104 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0407121927530161 0.073333939982352 NA 0.94096591753342 NA 0.0570230663676841 NA FALSE NA 0.969 0.436 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA TTC T,C 8.236e-06 19:46697232 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 splice_region_variant 1.335906 0.89047 0.24993 0.730579 0.785289788740366 0 0.9996964074254 TRUE NA ENSE00000714319_021 ENSE00000714319 021 19 47200373 47200542 - 41 78 51 A T 47200500 2752 43 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGTTGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697242 46697243 46697243 upstr_intron -9 -0.156862745098039 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACAACTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 626 205 0.99882978379992 0.990393386133012 0.994611584966466 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0435640087507273 0.0637273261153645 NA 0.94096591753342 NA 0.0536456674330459 NA FALSE NA 0.187 0.672 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 rs377214350 1 NA T:0 T:0.0001 GAT A,T 8.236e-06 19:46697243 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 non_coding_transcript_exon_variant 0.926361 0.24645 0.0483 0.120541 0.862896531138281 0.282037 0.9996964074254 TRUE 4.12239e-06 ENSE00000714319_022 ENSE00000714319 022 19 47200373 47200542 - 41 78 51 T G 47200501 2753 42 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGAGGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697243 46697244 46697244 upstr_intron -10 -0.176470588235294 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACCTCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 1400 465 0.998073487402392 1 0.999036743701196 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0428077123531988 0.073333939982352 NA 0.94096591753342 NA 0.0580708261677754 NA FALSE NA 0.004 -0.161 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA ATG T,G 8.236e-06 19:46697244 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 non_coding_transcript_exon_variant 1.131845 0.19975 0.02149 0.120541 0.770471583690022 0.215294 0.9996964074254 TRUE 2.47594e-05 ENSE00000714319_023 ENSE00000714319 023 19 47200373 47200542 - 41 78 51 G T 47200506 2754 37 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTTAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697248 46697249 46697249 upstr_intron -15 -0.274509803921569 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTAAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 597 15 0.860082525720684 1 0.930041262860342 NA NA 0.955265775049193 0.926666060017648 NA NA -0.0951832493285092 0.073333939982352 NA 0.94096591753342 NA -0.0109246546730786 NA FALSE NA 0.111 0.414 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA TGA G,T 8.237e-06 19:46697249 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 non_coding_transcript_exon_variant 0.910829 0.23092 0.09994 0.120541 0.832507344055772 0.246926 0.9996964074254 TRUE 8.32182e-06 ENSE00000714319_025 ENSE00000714319 025 19 47200373 47200542 - 41 78 51 T C 47200512 2756 31 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGCCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697254 46697255 46697255 upstr_intron -21 -0.392156862745098 ACTGGGCAGGAAAGTCTGGCGGTTCACGTGGCTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 2125 291 0.95923853473028 1 0.97961926736514 NA NA 0.955265775049193 0.926666060017648 NA NA 0.00397275968108723 0.073333939982352 NA 0.94096591753342 NA 0.0386533498317196 NA FALSE NA 0.004 0.043 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA GTC T,C 8.237e-06 19:46697255 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 non_coding_transcript_exon_variant 0.509057 0.20544 0.04158 0.120541 0.506901339873798 0.108095 0.9996964074254 TRUE 4.21024e-06 ENSE00000714319_026 ENSE00000714319 026 19 47200373 47200542 - 41 78 51 C A 47200515 2757 28 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCAAGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 46697257 46697258 46697258 upstr_intron -24 -0.450980392156863 ACTGGGCAGGAAAGTCTGGCGGTTCACTTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 219 1073 1 1 1 NA NA 0.955265775049193 0.926666060017648 NA NA 0.044734224950807 0.073333939982352 NA 0.94096591753342 NA 0.0590340824665795 NA FALSE NA 0 0.25 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PRKD2 HGNC 17293 ENST00000597589 1/10 1 NA ACG C,A 8.237e-06 19:46697258 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 non_coding_transcript_exon_variant 1.207432 0.25381 0.05775 0.120541 0.847640452568016 0.108095 0.9996964074254 TRUE 4.27e-06 ENSE00000714319_027 ENSE00000714319 027 19 47200373 47200542 - 41 78 51 G T 47200523 2758 20 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCTCCAGACTTTCCTGCCCAGT 46697115 46697285 46697265 46697266 46697266 upstr_intron -32 -0.607843137254902 ACTGGGCAGGAAAGTCTGGAGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 1423 1161 0.995655695203605 0.998024156296898 0.996839925750251 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0403899201544117 0.0713580962792502 NA 0.94096591753342 NA 0.0558740082168309 NA FALSE NA 0 -0.441 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:46697266 PRKD2 HGNC Symbol protein_coding 42852 ENSG00000105287 ENSE00000714319 non_coding_transcript_exon_variant 0.203092 0.16646 0.02626 0.101703 0.647112487564419 0.0859605 0.9996964074254 TRUE 0.000222641 ENSE00000714319_028 ENSE00000714319 028 19 47200373 47200542 - 41 78 51 G A 47200523 2759 20 ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTACCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTCTGCAGAGATGTTTGAAGAGTCACGTGAACCACCAGACTTTCCTGCCCAGT 46697115 46697285 46697265 46697266 46697266 upstr_intron -32 -0.607843137254902 ACTGGGCAGGAAAGTCTGGTGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT mutant NA NA NA NA NA 283 274 0.999458077003979 0.999021780311868 0.999239928657923 NA NA 0.955265775049193 0.926666060017648 NA NA 0.0441923019547862 0.0723557202942195 NA 0.94096591753342 NA 0.0582740111245029 NA FALSE NA 0 -0.441 NA NA NA PRKD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKD2 NA NA NA ENSG00000105287 ENSE00000714319 non_coding_transcript_exon_variant 0.396838 0.15523 0.00661 0.101703 0.814747117180979 0.0859605 0.9996964074254 TRUE 0.000493303 ENSE00000714319_BRK ENSE00000714319 BRK 19 47200373 47200542 - 41 78 51 A,G; T,T NA NA NA ACAGCGGGAAGTCCGAGGGAGCTGAAAGCCCGGAGGCTTGGCTTATAGTATCTGTTGGTCGTGTTGTTCTGGAAGAGCGTGATACACTTGCAGTCCAGGCGCCAATAGTGCCGCTTTCTAAGCAGAGATGTTTGAAGAGTCACGTGAACCGCCAGACTTTCCTGCCCAGT 46697115 46697285 NA NA NA NA NA NA ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCTTAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGCCAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT ACTGGGCAGGAAAGTCTGGCGGTTCACGTGACTCTTCAAACATCTCTGCAGAGAAAGCGGCACTATTGGCGCCTGGACTGCAAGTGTATCACGCTCTTCCAGAACAACACGACCAACAGATACTATAAGGTAAGCCTCCGGGCTTTCAGCTCCCTCGGACTTCCCGCTGT control 61 81 0 0 0 335 109 0.092311598750692 0.00294925944122438 0.0476304290959582 NA NA 0.955265775049193 0.926666060017648 NA NA -0.862954176298501 -0.923716800576424 NA 0.94096591753342 NA -0.893335488437462 NA TRUE NA NA NA NA NA NA PRKD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKD2 NA NA NA ENSG00000105287 ENSE00000714319 NA NA NA NA NA NA NA 0.9996964074254 TRUE NA ENSE00000714454_000 ENSE00000714454 000 12 5915159 5915328 - 59 42 69 NA NA NA NA NA TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 NA NA NA NA NA NA TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG natural 22 19 0.995507068435408 0.996637706176201 0.996072387305804 1075 2528 0.749687368003791 0.860060549021774 0.804873958512782 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 0 0 0 0 0.996072387305804 0.804873958512782 0 0 0 FALSE FALSE NA NA NA NA NA ANO2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANO2 NA NA NA ENSG00000047617 ENSE00000714454 NA NA NA NA NA NA NA 2.8480469622138e-18 FALSE NA ENSE00000714454_001 ENSE00000714454 001 12 5915159 5915328 - 59 42 69 G A 5915170 253 159 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTATGGGTGGGTGTG 5805992 5806162 5806003 5806004 5806004 downstr_intron 48 1.82758620689655 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTATGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 63 76 0.982436146676752 1 0.991218073338376 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.232748778672961 0.139939450978226 0.996072387305804 0.804873958512782 NA 0.186344114825594 NA FALSE NA 0 -1.254 . intron_variant MODIFIER ANO2 HGNC 1183 ENST00000327087 9/25 1 NA CGT G,A 2.478e-05 12:5806004 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 intron_variant 0.035602 0.0811 7e-04 0.062308 0.445162820425266 0.0505976 2.8480469622138e-18 FALSE 3.35286e-05 ENSE00000714454_002 ENSE00000714454 002 12 5915159 5915328 - 59 42 69 G A 5915178 254 151 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGTGAGACTACGGGTGGGTGTG 5805992 5806162 5806011 5806012 5806012 downstr_intron 40 1.68965517241379 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGTGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 1703 34 1 1 1 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.250312631996209 0.139939450978226 0.996072387305804 0.804873958512782 NA 0.195126041487218 NA FALSE NA 0 -0.948 . intron_variant MODIFIER ANO2 HGNC 1183 ENST00000327087 9/25 1 NA CGC G,A 1.652e-05 12:5806012 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 intron_variant -0.39189 0.09108 0.00796 0.062308 0.742713980611505 0.0513792 2.8480469622138e-18 FALSE 2.07038e-05 ENSE00000714454_003 ENSE00000714454 003 12 5915159 5915328 - 59 42 69 C T 5915192 255 137 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTAGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806025 5806026 5806026 downstr_intron 26 1.44827586206897 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTAGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 242 312 1 1 1 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.250312631996209 0.139939450978226 0.996072387305804 0.804873958512782 NA 0.195126041487218 NA FALSE NA 0 0.481 . intron_variant MODIFIER ANO2 HGNC 1183 ENST00000327087 9/25 1 NA CCA C,T 1.653e-05 12:5806026 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 intron_variant 0.144177 0.17163 0.0906 0.062308 0.634482893729923 0.0513792 2.8480469622138e-18 FALSE 8.1612e-06 ENSE00000714454_005 ENSE00000714454 005 12 5915159 5915328 - 59 42 69 G A 5915201 257 128 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGTAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806034 5806035 5806035 downstr_intron 17 1.29310344827586 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGTAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 60 40 1 0.905678002515711 0.952839001257856 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.250312631996209 0.0456174534939376 0.996072387305804 0.804873958512782 NA 0.147965042745073 NA FALSE NA 0.001 0.992 . intron_variant MODIFIER ANO2 HGNC 1183 ENST00000327087 9/25 1 NA TGC G,A 8.267e-06 12:5806035 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 intron_variant 0.024289 0.13924 0.02307 0.062308 0.320225447034142 0.0513792 2.8480469622138e-18 FALSE NA ENSE00000714454_008 ENSE00000714454 008 12 5915159 5915328 - 59 42 69 G A 5915205 260 124 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTTGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806038 5806039 5806039 downstr_intron 13 1.22413793103448 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTTGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 863 1015 0.999522157624326 0.997896264909658 0.998709211266992 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.249834789620536 0.137835715887885 0.996072387305804 0.804873958512782 NA 0.19383525275421 NA FALSE NA 0 -1.045 . intron_variant MODIFIER ANO2 HGNC 1183 ENST00000327087 9/25 rs367867168 1 NA A:0 A:0.0001 CGA G,A 8.266e-06 12:5806039 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 intron_variant -0.136309 0.0802 0.00107 0.062308 0.459888079153633 0.0513792 2.8480469622138e-18 FALSE 8.14445e-06 ENSE00000714454_010 ENSE00000714454 010 12 5915159 5915328 - 59 42 69 G A 5915208 262 121 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGTCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806041 5806042 5806042 downstr_intron 10 1.17241379310345 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGTCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 722 781 0.0272858987607312 0.00259488307672226 0.0149403909187267 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA -0.72240146924306 -0.857465665945051 0.996072387305804 0.804873958512782 NA -0.789933567594056 NA TRUE NA 0 -0.142 . intron_variant MODIFIER ANO2 HGNC 1183 ENST00000327087 9/25 1 NA GGC G,A 8.267e-06 12:5806042 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 intron_variant 0.16976 0.11704 0.01751 0.062308 0.661362137430919 0.0513792 2.8480469622138e-18 FALSE NA ENSE00000714454_013 ENSE00000714454 013 12 5915159 5915328 - 59 42 69 C T 5915221 265 108 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGAAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806054 5806055 5806055 exon -4 0.928571428571429 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGAAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 154 51 1 1 1 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.250312631996209 0.139939450978226 0.996072387305804 0.804873958512782 NA 0.195126041487218 NA FALSE NA 1 1.499 . synonymous_variant LOW ANO2 HGNC 1183 ENST00000327087 9/26 rs370576663 1 NA T:0.0002 T:0 TCC C,T 8.267e-06 12:5806055 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 synonymous_variant 1.006241 0.93398 0.03447 0.615465 0.572981761455661 0 2.8480469622138e-18 FALSE 4.06745e-06 ENSE00000714454_015 ENSE00000714454 015 12 5915159 5915328 - 59 42 69 A G 5915227 267 102 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAACGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806060 5806061 5806061 exon -10 0.785714285714286 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAACGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 636 114 0.999758971926291 0.99831317650946 0.999036074217875 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.2500716039225 0.138252627487686 0.996072387305804 0.804873958512782 NA 0.194162115705093 NA FALSE NA 1 1.096 . synonymous_variant LOW ANO2 HGNC 1183 ENST00000327087 9/26 1 NA CAT A,G 8.267e-06 12:5806061 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 synonymous_variant -0.622837 0.94529 0.75029 0.562547 0.305781307403294 0 2.8480469622138e-18 FALSE 4.06719e-06 ENSE00000714454_018 ENSE00000714454 018 12 5915159 5915328 - 59 42 69 C T 5915235 270 94 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACAATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806068 5806069 5806069 exon -18 0.595238095238095 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACAATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 318 80 1 1 1 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.250312631996209 0.139939450978226 0.996072387305804 0.804873958512782 NA 0.195126041487218 NA FALSE NA 0.997 4.336 . missense_variant MODERATE ANO2 HGNC 1183 ENST00000327087 9/26 COSM1990081&COSM1990079&COSM1990080 1 possibly_damaging(0.894) NA TCG C,T 3.308e-05 12:5806069 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 missense_variant 4.750295 0.98279 0.94428 0.562547 0.985435247271922 0 2.8480469622138e-18 FALSE 3.2538e-05 ENSE00000714454_019 ENSE00000714454 019 12 5915159 5915328 - 59 42 69 G A 5915236 271 93 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGATGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806069 5806070 5806070 exon -19 0.571428571428571 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGATGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 35 60 0.814263332227706 1 0.907131666113853 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.0645759642239154 0.139939450978226 0.996072387305804 0.804873958512782 NA 0.102257707601071 NA FALSE NA 0.368 -0.387 NA NA NA ANO2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:5806070 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 synonymous_variant -0.899115 0.61529 0.00908 0.562547 0.243319390833066 0 2.8480469622138e-18 FALSE 2.44101e-05 ENSE00000714454_025 ENSE00000714454 025 12 5915159 5915328 - 59 42 69 G A 5915251 277 78 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATATGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806084 5806085 5806085 exon 9 0.214285714285714 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATATGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 47 429 1 0.996295414131619 0.998147707065809 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.250312631996209 0.136234865109845 0.996072387305804 0.804873958512782 NA 0.193273748553027 NA FALSE NA 0.998 0.363 . synonymous_variant LOW ANO2 HGNC 1183 ENST00000327087 9/26 COSM147396 1 NA CGT G,A 8.273e-06 12:5806085 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 synonymous_variant -0.41199 0.88165 0.05345 0.562547 0.164260667198282 0 2.8480469622138e-18 FALSE 1.22066e-05 ENSE00000714454_028 ENSE00000714454 028 12 5915159 5915328 - 59 42 69 C G 5915256 280 73 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTCAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806089 5806090 5806090 exon 4 0.0952380952380952 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTCAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 174 92 1 0.993094587045366 0.996547293522683 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.250312631996209 0.133034038023593 0.996072387305804 0.804873958512782 NA 0.191673335009901 NA FALSE NA 1 4.336 . missense_variant MODERATE ANO2 HGNC 1183 ENST00000327087 9/26 1 probably_damaging(0.917) NA TCA C,G 8.274e-06 12:5806090 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 missense_variant 3.51866 0.98397 0.95534 0.562547 0.994662388514791 0 2.8480469622138e-18 FALSE 4.06924e-06 ENSE00000714454_030 ENSE00000714454 030 12 5915159 5915328 - 59 42 69 G A 5915262 282 67 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCATAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806095 5806096 5806096 upstr_intron -3 -0.0289855072463768 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCATAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant 15 10 0.85 0.85 0.85 56 56 0.95 0.951166525913773 0.950583262956887 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 -0.145507068435408 -0.146637706176201 0.200312631996209 0.0911059768919996 0.996072387305804 0.804873958512782 -0.146072387305804 0.145709304444104 0.291781691749909 FALSE FALSE 0.988 2.193 . splice_region_variant&intron_variant LOW ANO2 HGNC 1183 ENST00000327087 8/25 1 NA TGT G,A 8.274e-06 12:5806096 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 splice_region_variant 1.06563 0.96694 0.71579 0.062308 0.733579870154154 0.964105 2.8480469622138e-18 FALSE 4.07601e-06 ENSE00000714454_031 ENSE00000714454 031 12 5915159 5915328 - 59 42 69 G A 5915265 283 64 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTTCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806098 5806099 5806099 upstr_intron -6 -0.072463768115942 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTTCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant 13 47 1 1 1 NA NA NA NA NA 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 0.00449293156459207 0.00336229382379905 NA NA 0.996072387305804 0.804873958512782 0.00392761269419556 NA NA NA FALSE 0.006 0.654 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:5806099 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 splice_region_variant -0.095758 0.16435 0.02665 0.062308 0.532739510980358 0.246573 2.8480469622138e-18 FALSE 1.22497e-05 ENSE00000714454_032 ENSE00000714454 032 12 5915159 5915328 - 59 42 69 G T 5915265 284 64 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTACACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806098 5806099 5806099 upstr_intron -6 -0.072463768115942 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTACACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 370 81 0.8 0.806204448349128 0.803102224174564 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.0503126319962093 -0.0538561006726459 0.996072387305804 0.804873958512782 NA -0.00177173433821831 NA FALSE NA 0.006 0.654 NA NA NA ANO2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANO2 NA NA NA ENSG00000047617 ENSE00000714454 splice_region_variant -0.200871 0.17169 0.05646 0.062308 0.552875546650698 0.246573 2.8480469622138e-18 FALSE 1.63329e-05 ENSE00000714454_035 ENSE00000714454 035 12 5915159 5915328 - 59 42 69 T C 5915293 287 36 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCGTTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806126 5806127 5806127 upstr_intron -34 -0.478260869565217 TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCGTTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 378 146 0.988868559321179 1 0.99443427966059 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.239181191317388 0.139939450978226 0.996072387305804 0.804873958512782 NA 0.189560321147807 NA FALSE NA 0 -0.491 . intron_variant MODIFIER ANO2 HGNC 1183 ENST00000327087 8/25 rs533966299 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATG T,C 8.275e-06 12:5806127 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 intron_variant 0.04284 0.13194 0.03908 0.062308 0.598444826134998 0.164832 2.8480469622138e-18 FALSE NA ENSE00000714454_037 ENSE00000714454 037 12 5915159 5915328 - 59 42 69 A G 5915309 289 20 TCCTTTCTCCTTTGGCACCCGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG 5805992 5806162 5806142 5806143 5806143 upstr_intron -50 -0.710144927536232 TCCTTTCTCCTTTGGCACCCGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG TCCTTTCTCCTTTGGCACCTGCTTCTGGTAATTTCATTGGCTTTATCCAGCATCACTTTTTCTCCACAGGGTGAATACGATAGTCCAGAGGACGATATGAATGACAGGAAGGTAAGCCTGCCTCGTGCAGCATCCTGGACTTTGGGCATGCGAGACTACGGGTGGGTGTG mutant NA NA NA NA NA 209 580 1 0.993398640241569 0.996699320120784 0.995507068435408 0.996637706176201 0.749687368003791 0.860060549021774 NA NA 0.250312631996209 0.133338091219795 0.996072387305804 0.804873958512782 NA 0.191825361608002 NA FALSE NA 0.115 0.704 . intron_variant MODIFIER ANO2 HGNC 1183 ENST00000327087 8/25 1 NA CAG A,G 0.0002482 12:5806143 ANO2 HGNC Symbol protein_coding 414363 ENSG00000047617 ENSE00000714454 intron_variant 0.210713 0.17694 0.01276 0.062308 0.572897003036385 0.152421 2.8480469622138e-18 FALSE 0.000478662 ENSE00000714848_000 ENSE00000714848 000 12 6344354 6344523 + 41 99 30 NA NA NA NA NA CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 NA NA NA NA NA NA GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG natural 882 1354 0.846179797322847 0.852923590466992 0.849551693894919 2712 2743 0.825651269403349 0.966496079815859 0.896073674609604 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0 0 0 0 0.849551693894919 0.896073674609604 0 0 0 FALSE FALSE NA NA NA NA NA CD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD9 NA NA NA ENSG00000010278 ENSE00003653329 NA NA NA NA NA NA NA 0.147688594875406 FALSE NA ENSE00000714848_001 ENSE00000714848 001 12 6344354 6344523 + 41 99 30 G A 6344369 311 16 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGTAGAGACGGCATTTTC 6235187 6235357 6235202 6235203 6235203 upstr_intron -26 -0.609756097560976 GAAAATGCCGTCTCTACCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 1300 585 0.998918680391529 0.999674064064685 0.999296372228107 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA 0.17326741098818 0.0331779842488267 0.849551693894919 0.896073674609604 NA 0.103222697618503 NA FALSE NA 0.001 0.714 rs138043550 intron_variant MODIFIER CD9 HGNC 1709 ENST00000382515 4/7 rs138043550 1 A:0.0062 A:0 A:0.0447 NA A:0 A:0 A:0 A:0.0005 A:0.0001 TGC G,A 0.003723 12:6235203 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 intron_variant 0.429649 0.28775 0.11897 0 0.742712287516512 0.122724 0.147688594875406 FALSE 0.00524996 ENSE00000714848_002 ENSE00000714848 002 12 6344354 6344523 + 41 99 30 T G 6344374 312 21 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGCGGGGCAGAGACGGCATTTTC 6235187 6235357 6235207 6235208 6235208 upstr_intron -21 -0.48780487804878 GAAAATGCCGTCTCTGCCCCGCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 426 1358 0.608282389348498 0.802229737008627 0.705256063178563 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA -0.217368880054851 -0.164266342807232 0.849551693894919 0.896073674609604 NA -0.190817611431041 NA FALSE NA 0 0.233 . intron_variant MODIFIER CD9 HGNC 1709 ENST00000382515 4/7 1 NA CTC T,G 8.237e-06 12:6235208 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 intron_variant 0.28212 0.34636 0.20786 0 0.687718310825786 0.122724 0.147688594875406 FALSE 4.11032e-06 ENSE00000714848_003 ENSE00000714848 003 12 6344354 6344523 + 41 99 30 C T 6344375 313 22 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAAAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235208 6235209 6235209 upstr_intron -20 -0.463414634146341 GAAAATGCCGTCTCTGCCCCTTTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 285 389 0.993329201712212 0.981511946514073 0.987420574113142 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA 0.167677932308863 0.0150158666982143 0.849551693894919 0.896073674609604 NA 0.0913468995035384 NA FALSE NA 0 -0.759 rs71579339 intron_variant MODIFIER CD9 HGNC 1709 ENST00000382515 4/7 rs71579339 1 T:0.0016 T:0 T:0.0014 NA T:0 T:0.007 T:0 T:0.0002 T:0.0044 TCT C,T 0.004868 12:6235209 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 intron_variant 0.31912 0.25784 0.0465 0 0.82439925336911 0.122724 0.147688594875406 FALSE 0.00501488 ENSE00000714848_004 ENSE00000714848 004 12 6344354 6344523 + 41 99 30 C T 6344379 314 26 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACAAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235212 6235213 6235213 upstr_intron -16 -0.365853658536585 GAAAATGCCGTCTCTGCCCCTCTCTTGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 223 22 1 0.990854257901916 0.995427128950958 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA 0.174348730596651 0.0243581780860572 0.849551693894919 0.896073674609604 NA 0.099353454341354 NA FALSE NA 0 -1.544 rs71579340 intron_variant MODIFIER CD9 HGNC 1709 ENST00000382515 4/7 rs71579340 1 T:0.0006 T:0 T:0 NA T:0 T:0.003 T:0 T:0 T:0.0006 TCG T,T 0.0002471 12:6235213 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 intron_variant 0.663964 0.13989 0.00596 0.099367 0.726065744321458 0.122724 0.147688594875406 FALSE 0.000225532 ENSE00000714848_006 ENSE00000714848 006 12 6344354 6344523 + 41 99 30 C G 6344386 316 33 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGCGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235219 6235220 6235220 upstr_intron -9 -0.195121951219512 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCGCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 23 23 0.85 0.85 0.85 232 671 0.827619200794518 0.800968327953893 0.814293764374206 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.00382020267715344 -0.0029235904669922 0.00196793139116846 -0.165527751861965 0.849551693894919 0.896073674609604 0.00044830610508062 -0.0817799102353984 0.0822282163404791 FALSE FALSE 0 0.28 rs11568265 intron_variant MODIFIER CD9 HGNC 1709 ENST00000382515 4/7 rs11568265 1 G:0.0070 G:0.0257 G:0.0014 NA G:0 G:0 G:0 G:0.0191 G:0.0002 CCC C,G 0.001787 12:6235220 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 intron_variant 0.703396 0.30725 0.16525 0.099367 0.694134045018276 0.122785 0.147688594875406 FALSE 0.00142113 ENSE00000714848_007 ENSE00000714848 007 12 6344354 6344523 + 41 99 30 A G 6344388 317 35 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAACGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235221 6235222 6235222 upstr_intron -7 -0.146341463414634 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCGTTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 114 135 0.730877953456473 0.77740720917762 0.754142581317047 355 20 0.955254233478214 0.814492334827181 0.884873284152698 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 -0.115301843866373 -0.0755163812893721 0.129602964074865 -0.152003744988678 0.849551693894919 0.896073674609604 -0.0954091125778727 -0.0112003904569062 0.0842087221209665 FALSE FALSE 0 0.385 . splice_region_variant&intron_variant LOW CD9 HGNC 1709 ENST00000382515 4/7 1 NA CAT A,G 3.295e-05 12:6235222 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 splice_region_variant 0.364896 0.29882 0.05083 0.099367 0.701952430730461 0.17699 0.147688594875406 FALSE 2.85505e-05 ENSE00000714848_008 ENSE00000714848 008 12 6344354 6344523 + 41 99 30 G A 6344415 318 62 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAATTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235248 6235249 6235249 exon 21 0.212121212121212 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAATTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 162 261 0.85 0.85 0.85 1365 1478 0.923060135151597 0.761148119157939 0.842104127154768 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.00382020267715344 -0.0029235904669922 0.0974088657482474 -0.20534796065792 0.849551693894919 0.896073674609604 0.00044830610508062 -0.0539695474548363 0.0544178535599169 FALSE FALSE 0 -3.368 . synonymous_variant LOW CD9 HGNC 1709 ENST00000382515 5/8 rs542130343 1 A:0.0014 A:0 A:0 NA A:0 A:0 A:0.0072 AGT G,A 0.0005024 12:6235249 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 synonymous_variant 0.004352 0.19757 0.04163 0.722319 0.715359479402742 0 0.147688594875406 FALSE 0.000475881 ENSE00000714848_009 ENSE00000714848 009 12 6344354 6344523 + 41 99 30 A G 6344420 319 67 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGCAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235253 6235254 6235254 exon 26 0.262626262626263 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTGCAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 43 49 0.85 0.85 0.85 412 301 0.947071716420234 0.831400229996758 0.889235973208496 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.00382020267715344 -0.00292359046699231 0.121420447016884 -0.135095849819101 0.849551693894919 0.896073674609604 0.000448306105080565 -0.00683770140110823 0.0072860075061888 FALSE FALSE 1 7.148 . missense_variant MODERATE CD9 HGNC 1709 ENST00000382515 5/8 1 deleterious(0) probably_damaging(1) NA TAC A,G 8.236e-06 12:6235254 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 missense_variant 5.343235 0.97522 0.98004 0.722319 0.997961252377916 0 0.147688594875406 FALSE 4.06726e-06 ENSE00000714848_010 ENSE00000714848 010 12 6344354 6344523 + 41 99 30 C T 6344421 320 68 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTATAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235254 6235255 6235255 exon 27 0.272727272727273 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTATAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 102 74 0.8 0.8 0.8 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA -0.0256512694033493 -0.166496079815859 0.849551693894919 0.896073674609604 NA -0.096073674609604 NA FALSE NA 1 2 . synonymous_variant LOW CD9 HGNC 1709 ENST00000382515 5/8 1 NA ACA C,T 8.236e-06 12:6235255 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 synonymous_variant 0.665881 0.95634 0.86946 0.722319 0.754181940482809 0 0.147688594875406 FALSE 4.06788e-06 ENSE00000714848_011 ENSE00000714848 011 12 6344354 6344523 + 41 99 30 A G 6344422 321 69 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTCGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235255 6235256 6235256 exon 28 0.282828282828283 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACGAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 69 1180 1 0.988405528489547 0.994202764244773 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA 0.174348730596651 0.0219094486736879 0.849551693894919 0.896073674609604 NA 0.0981290896351693 NA FALSE NA 0.997 0.813 . missense_variant MODERATE CD9 HGNC 1709 ENST00000382515 5/8 1 tolerated(0.69) benign(0.014) NA CAA A,G 8.236e-06 12:6235256 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 missense_variant 0.268055 0.93822 0.55367 0.722319 0.619238467085987 0 0.147688594875406 FALSE 8.13392e-06 ENSE00000714848_012 ENSE00000714848 012 12 6344354 6344523 + 41 99 30 C G 6344430 322 77 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTACGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235263 6235264 6235264 exon 36 0.363636363636364 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACGTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 26 49 0.85 0.85 0.85 295 1670 0.934160049536117 0.992507740644516 0.963333895090317 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.00382020267715344 -0.00292359046699231 0.108508780132768 0.0260116608286577 0.849551693894919 0.896073674609604 0.000448306105080565 0.0672602204807128 0.0668119143756323 FALSE FALSE 0.967 -0.271 . synonymous_variant LOW CD9 HGNC 1709 ENST00000382515 5/8 1 NA CCT C,G 8.236e-06 12:6235264 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 synonymous_variant 1.659881 0.93159 0.66228 0.722319 0.705852171756029 0 0.147688594875406 FALSE 4.06286e-06 ENSE00000714848_016 ENSE00000714848 016 12 6344354 6344523 + 41 99 30 C T 6344464 326 111 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCACTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235297 6235298 6235298 exon -30 0.707070707070707 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGTGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 21 997 0.989770672364513 0.999188989354807 0.99447983085966 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA 0.164119402961164 0.032692909538948 0.849551693894919 0.896073674609604 NA 0.0984061562500559 NA FALSE NA 0.994 1.496 . missense_variant MODERATE CD9 HGNC 1709 ENST00000382515 5/8 rs370435329 1 deleterious(0) probably_damaging(0.992) NA T:0 T:0.0001 GCG C,T 2.471e-05 12:6235298 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 missense_variant 7.663469 0.94757 0.88013 0.722319 0.999186403522768 0 0.147688594875406 FALSE 2.03074e-05 ENSE00000714848_017 ENSE00000714848 017 12 6344354 6344523 + 41 99 30 G A 6344465 327 112 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCTGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235298 6235299 6235299 exon -29 0.717171717171717 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCAGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 38 52 0.995900380690823 0.979195840953357 0.98754811082209 374 28 0.99966942454266 1 0.99983471227133 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.149720583367977 0.126272250486364 0.174018155139311 0.0335039201841413 0.849551693894919 0.896073674609604 0.137996416927171 0.103761037661726 0.0342353792654446 FALSE FALSE 1 1.555 rs35799798 missense_variant MODERATE CD9 HGNC 1709 ENST00000382515 5/8 rs35799798&COSM1512745 1 deleterious(0.04) possibly_damaging(0.733) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0009 CGG G,A 0.000626 12:6235299 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 missense_variant 5.883105 0.94104 0.62462 0.722319 0.999384415504435 0 0.147688594875406 FALSE 0.000702589 ENSE00000714848_018 ENSE00000714848 018 12 6344354 6344523 + 41 99 30 G A 6344472 328 119 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGGATGGCTTTCAGTGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235305 6235306 6235306 exon -22 0.787878787878788 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACACTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 164 63 0.997028263647346 0.99878262092711 0.997905442287228 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA 0.171376994243997 0.0322865411112516 0.849551693894919 0.896073674609604 NA 0.101831767677624 NA FALSE NA 0 -2.823 rs137873319 synonymous_variant LOW CD9 HGNC 1709 ENST00000382515 5/8 rs370851651 1 A:0.0046 A:0 A:0 NA A:0 A:0 A:0.0235 CGC G,A 0.002043 12:6235306 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 synonymous_variant 1.875027 0.44638 0.06675 0.722319 0.868926213867653 0 0.147688594875406 FALSE 0.00180325 ENSE00000714848_019 ENSE00000714848 019 12 6344354 6344523 + 41 99 30 C T 6344484 329 131 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGTGAATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235317 6235318 6235318 exon -10 0.909090909090909 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATTCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant NA NA NA NA NA 1380 87 1 1 1 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 NA NA 0.174348730596651 0.0335039201841413 0.849551693894919 0.896073674609604 NA 0.103926325390396 NA FALSE NA 1 0.33 . synonymous_variant LOW CD9 HGNC 1709 ENST00000382515 5/8 1 NA TCC C,T 2.471e-05 12:6235318 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 synonymous_variant 1.840422 0.94583 0.79836 0.722319 0.842932051211686 0 0.147688594875406 FALSE 2.03054e-05 ENSE00000714848_021 ENSE00000714848 021 12 6344354 6344523 + 41 99 30 A G 6344486 331 133 CAGGAGGGTGTCTTTGCCAAGGCGACATACCGCATAGCGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235319 6235320 6235320 exon -8 0.929292929292929 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCGCTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 136 170 0.85 0.85 0.85 NA NA NA NA NA 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.00382020267715344 -0.0029235904669922 NA NA 0.849551693894919 0.896073674609604 0.00044830610508062 NA NA NA FALSE 1 7.093 . missense_variant MODERATE CD9 HGNC 1709 ENST00000382515 5/8 1 deleterious(0.04) possibly_damaging(0.833) NA CAC A,G 8.236e-06 12:6235320 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 missense_variant 5.214317 0.97867 0.98064 0.722319 0.998098075713649 0 0.147688594875406 FALSE 4.06114e-06 ENSE00000714848_022 ENSE00000714848 022 12 6344354 6344523 + 41 99 30 C T 6344500 332 147 CAGGAGGGTGTCTTTGCCAAGGCAACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235333 6235334 6235334 downstr_intron 7 1.24137931034483 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTTGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 45 86 0.885844925614393 0.85 0.867922462807196 NA NA NA NA NA 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.0396651282915462 -0.0029235904669922 NA NA 0.849551693894919 0.896073674609604 0.018370768912277 NA NA NA FALSE 0 -0.471 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:6235334 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 splice_region_variant 0.578924 0.2854 0.08287 0.099367 0.815894943370583 0.0504661 0.147688594875406 FALSE 1.21845e-05 ENSE00000714848_023 ENSE00000714848 023 12 6344354 6344523 + 41 99 30 C G 6344500 333 147 CAGGAGGGTGTCTTTGCCAAGGCCACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235333 6235334 6235334 downstr_intron 7 1.24137931034483 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTGGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 67 80 0.85 0.85 0.85 417 167 0.809287713660704 0.8 0.804643856830352 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.00382020267715355 -0.0029235904669922 -0.0163635557426453 -0.166496079815859 0.849551693894919 0.896073674609604 0.000448306105080676 -0.0914298177792519 0.0918781238843326 FALSE FALSE 0 -0.471 NA NA NA CD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD9 NA NA NA ENSG00000010278 ENSE00003653329 splice_region_variant 0.273881 0.28959 0.08753 0.099367 0.685459555272059 0.0504661 0.147688594875406 FALSE 4.06151e-06 ENSE00000714848_024 ENSE00000714848 024 12 6344354 6344523 + 41 99 30 G A 6344501 334 148 CAGGAGGGTGTCTTTGCCAAGGTGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235334 6235335 6235335 downstr_intron 8 1.27586206896552 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCACCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 30 10 0.85 0.85 0.85 NA NA NA NA NA 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.00382020267715344 -0.0029235904669922 NA NA 0.849551693894919 0.896073674609604 0.00044830610508062 NA NA NA FALSE 0 -4.301 rs11568266 splice_region_variant&intron_variant LOW CD9 HGNC 1709 ENST00000382515 5/7 rs11568266 1 A:0.0046 A:0.0136 A:0.0014 NA A:0.004 A:0 A:0 A:0.0141 A:0 CGC G,A 0.001697 12:6235335 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 splice_region_variant 0.076301 0.18635 0.01998 0.099367 0.818385039570397 0.0504661 0.147688594875406 FALSE 0.00127933 ENSE00000714848_025 ENSE00000714848 025 12 6344354 6344523 + 41 99 30 C T 6344503 335 150 CAGGAGGGTGTCTTTGCCAAAGCGACATACCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACCTACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 6235336 6235337 6235337 downstr_intron 10 1.3448275862069 GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCTTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG mutant 79 36 0.85 0.85 0.85 117 366 0.95 0.930509109823426 0.940254554911713 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 0.00382020267715344 -0.0029235904669922 0.124348730596651 -0.0359869699924331 0.849551693894919 0.896073674609604 0.00044830610508062 0.0441808803021088 0.0437325741970282 FALSE FALSE 0.001 0.577 . intron_variant MODIFIER CD9 HGNC 1709 ENST00000382515 5/7 1 NA CCT C,T 8.236e-06 12:6235337 CD9 HGNC Symbol protein_coding 38556 ENSG00000010278 ENSE00003653329 intron_variant 0.458278 0.27996 0.1059 0.099367 0.770023786416249 0.0504661 0.147688594875406 FALSE 4.06147e-06 ENSE00000714848_BRK ENSE00000714848 BRK 12 6344354 6344523 + 41 99 30 A,G; T,T NA NA NA CAGGAGGGTGTCTTTGCCAAGGCGACATGGCGCATAGTGGATGGCTTTCAGCGTTTCCCGCTGGGGCTCATCCTTGGTTTTCAGCTTGTTGTAGGTGTCCTTGTAAAACTCCTGGACTTCCTTAATCACAAACAATGGGCAGACGAGAGAGGGGCAGAGACGGCATTTTC 6235187 6235357 NA NA NA NA NA NA GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTTTGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGCCATGTCGCCTTGGCAAAGACACCCTCCTG GAAAATGCCGTCTCTGCCCCTCTCTCGTCTGCCCATTGTAGGTGATTAAGGAAGTCCAGGAGTTTTACAAGGACACCTACAACAAGCTGAAAACCAAGGATGAGCCCCAGCGGGAAACGCTGAAAGCCATCCACTATGCGGTATGTCGCCTTGGCAAAGACACCCTCCTG control 42 122 0 0 0 910 63 0.005329668980028 0 0.002664834490014 0.846179797322847 0.852923590466992 0.825651269403349 0.966496079815859 -0.846179797322847 -0.852923590466992 -0.820321600423321 -0.966496079815859 0.849551693894919 0.896073674609604 -0.849551693894919 -0.89340884011959 0.0438571462246707 TRUE TRUE NA NA NA NA NA CD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD9 NA NA NA ENSG00000010278 ENSE00003653329 NA NA NA NA NA NA NA 0.147688594875406 FALSE NA ENSE00000715273_000 ENSE00000715273 000 12 6669829 6669998 - 35 90 45 NA NA NA NA NA CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 NA NA NA NA NA NA CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT natural 12 14 0.997346000368666 0.993549176946281 0.995447588657473 1317 1326 0.961383744842571 0.989617357628788 0.97550055123568 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 0 0 0 0 0.995447588657473 0.97550055123568 0 0 0 FALSE FALSE NA NA NA NA NA NOP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NOP2 NA NA NA ENSG00000111641 ENSE00000715273 NA NA NA NA NA NA NA 0.0489276422808689 FALSE NA ENSE00000715273_002 ENSE00000715273 002 12 6669829 6669998 - 35 90 45 C G 6669849 371 150 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTCGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560682 6560683 6560683 downstr_intron 15 1.44117647058824 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTCGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 111 92 1 1 1 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0386162551574289 0.0103826423712119 0.995447588657473 0.97550055123568 NA 0.0244994487643204 NA FALSE NA 0 -1.734 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NOP2 HGNC 7867 ENST00000537708 2/2 rs199789773 1 NA G:0 G:0.0007 CCA C,G 0.0003304 12:6560683 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 non_coding_transcript_exon_variant -0.64453 0.14496 0.04031 0.256867 0.468889702142073 0.0509052 0.0489276422808689 FALSE 0.000482121 ENSE00000715273_003 ENSE00000715273 003 12 6669829 6669998 - 35 90 45 A G 6669877 372 122 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGCGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560710 6560711 6560711 exon -14 0.855555555555556 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGCGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 604 186 0.996128207794155 0.994496491118684 0.99531234945642 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0347444629515836 0.00487913348989633 0.995447588657473 0.97550055123568 NA 0.01981179822074 NA FALSE NA 1 9.343 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NOP2 HGNC 7867 ENST00000537708 2/2 1 NA CAC A,G 8.263e-06 12:6560711 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 missense_variant 5.663756 0.97658 0.98718 0.67177 0.998805805681899 0 0.0489276422808689 FALSE 4.07657e-06 ENSE00000715273_004 ENSE00000715273 004 12 6669829 6669998 - 35 90 45 C T 6669878 373 121 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCATGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560711 6560712 6560712 exon -15 0.844444444444444 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCATGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 33 441 0.998746209411576 0.970565697416099 0.984655953413838 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0373624645690052 -0.0190516602126891 0.995447588657473 0.97550055123568 NA 0.00915540217815802 NA FALSE NA 1 6.083 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NOP2 HGNC 7867 ENST00000537708 2/2 rs367978783 1 NA T:0 T:0.0001 ACG C,T 0.0001074 12:6560712 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 missense_variant 6.950652 0.9679 0.96749 0.67177 0.998783922528226 0 0.0489276422808689 FALSE 0.000106056 ENSE00000715273_007 ENSE00000715273 007 12 6669829 6669998 - 35 90 45 A G 6669893 376 106 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCCCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560726 6560727 6560727 exon -30 0.677777777777778 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCCCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 325 75 0.997158735581922 0.997885412812295 0.997522074197108 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0357749907393511 0.00826805518350682 0.995447588657473 0.97550055123568 NA 0.022021522961429 NA FALSE NA 1 4.544 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NOP2 HGNC 7867 ENST00000537708 2/2 1 NA GAG A,G 8.265e-06 12:6560727 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 missense_variant 6.158475 0.95134 0.94317 0.67177 0.998859550877269 0 0.0489276422808689 FALSE 4.07634e-06 ENSE00000715273_009 ENSE00000715273 009 12 6669829 6669998 - 35 90 45 A G 6669909 378 90 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGCGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560742 6560743 6560743 exon 45 0.5 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGCGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 271 24 1 1 1 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0386162551574289 0.0103826423712119 0.995447588657473 0.97550055123568 NA 0.0244994487643204 NA FALSE NA 0.875 0.107 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NOP2 HGNC 7867 ENST00000537708 2/2 1 NA CAC A,G 8.266e-06 12:6560743 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 splice_region_variant 0.239971 0.92032 0.78312 0.67177 0.843778051342525 0 0.0489276422808689 FALSE NA ENSE00000715273_010 ENSE00000715273 010 12 6669829 6669998 - 35 90 45 C A 6669910 379 89 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCATTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560743 6560744 6560744 exon 44 0.488888888888889 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCATTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 23 172 1 1 1 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0386162551574289 0.0103826423712119 0.995447588657473 0.97550055123568 NA 0.0244994487643204 NA FALSE NA 1 6.137 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NOP2 HGNC 7867 ENST00000537708 2/2 1 NA ACT C,A 8.266e-06 12:6560744 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 splice_acceptor_variant 7.064593 0.96703 0.9591 0.67177 0.994400599104944 0 0.0489276422808689 FALSE 1.2229e-05 ENSE00000715273_012 ENSE00000715273 012 12 6669829 6669998 - 35 90 45 A G 6669939 381 60 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTCGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560772 6560773 6560773 exon 15 0.166666666666667 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTCGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 130 454 1 0.993545637964139 0.99677281898207 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0386162551574289 0.00392828033535131 0.995447588657473 0.97550055123568 NA 0.0212722677463901 NA FALSE NA 1 2.66 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NOP2 HGNC 7867 ENST00000537708 2/2 1 NA CAA A,G 8.27e-06 12:6560773 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 synonymous_variant 0.505059 0.92864 0.88666 0.67177 0.76151522041016 0 0.0489276422808689 FALSE NA ENSE00000715273_014 ENSE00000715273 014 12 6669829 6669998 - 35 90 45 G A 6669957 383 42 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTTCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560790 6560791 6560791 upstr_intron -4 -0.0666666666666667 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTTCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 133 321 0.996864051958823 1 0.998432025979412 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0354803071162524 0.0103826423712119 0.995447588657473 0.97550055123568 NA 0.0229314747437321 NA FALSE NA 0.044 0.127 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NOP2 HGNC 7867 ENST00000537708 1/1 1 NA GGA G,A 8.27e-06 12:6560791 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 splice_region_variant -0.27009 0.27132 0.23041 0.115753 0.645063398254761 0.104687 0.0489276422808689 FALSE 4.11957e-06 ENSE00000715273_015 ENSE00000715273 015 12 6669829 6669998 - 35 90 45 G A 6669959 384 40 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTTTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560792 6560793 6560793 upstr_intron -6 -0.111111111111111 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTTTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 120 405 0.965792401075739 0.99722753559913 0.981509968337434 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.00440865623316777 0.00761017797034147 0.995447588657473 0.97550055123568 NA 0.00600941710175462 NA FALSE NA 0 -0.683 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NOP2 HGNC 7867 ENST00000537708 1/1 1 NA AGA G,A 3.308e-05 12:6560793 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 splice_region_variant -0.26659 0.2745 0.07842 0.075938 0.603748066508325 0.103474 0.0489276422808689 FALSE 1.23731e-05 ENSE00000715273_016 ENSE00000715273 016 12 6669829 6669998 - 35 90 45 A C 6669963 385 36 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCGTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560796 6560797 6560797 upstr_intron -10 -0.2 CTGGTTGCAGAAGAGACATATGATTCATCTGTATCGTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 37 129 1 1 1 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0386162551574289 0.0103826423712119 0.995447588657473 0.97550055123568 NA 0.0244994487643204 NA FALSE NA 0 0.014 . intron_variant&non_coding_transcript_variant MODIFIER NOP2 HGNC 7867 ENST00000537708 1/1 1 NA AAG A,C 8.27e-06 12:6560797 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 intron_variant -0.449136 0.28539 0.1954 0.075938 0.488012392120618 0.092296 0.0489276422808689 FALSE 1.24002e-05 ENSE00000715273_019 ENSE00000715273 019 12 6669829 6669998 - 35 90 45 A G 6669978 388 21 CTGGTTGCAGAAGAGACATACGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560811 6560812 6560812 upstr_intron -25 -0.533333333333333 CTGGTTGCAGAAGAGACATACGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 497 53 0.995515182674883 1 0.997757591337441 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA 0.0341314378323119 0.0103826423712119 0.995447588657473 0.97550055123568 NA 0.0222570401017619 NA FALSE NA 0 -0.485 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:6560812 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00000715273 intron_variant -0.466433 0.19546 0.1174 0.075938 0.338810122621601 0.0494756 0.0489276422808689 FALSE 1.25674e-05 ENSE00000715273_020 ENSE00000715273 020 12 6669829 6669998 - 35 90 45 A C 6669978 389 21 CTGGTTGCAGAAGAGACATAGGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT 6560662 6560832 6560811 6560812 6560812 upstr_intron -25 -0.533333333333333 CTGGTTGCAGAAGAGACATAGGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT CTGGTTGCAGAAGAGACATATGATTCATCTGTATCTTTTCTCCAGGTGGTGGGGGGCTTTGACCGAGTACTGCTGGATGCTCCCTGCAGTGGCACTGGGGTCATCTCCAAGGATCCAGCCGTGAAGACTAACAAGGTGAGGAGTCAGGTGGTGGGCCCCTGAGAGGCCTT mutant NA NA NA NA NA 207 360 0.917308674294776 0.997421834141466 0.957365254218121 0.997346000368666 0.993549176946281 0.961383744842571 0.989617357628788 NA NA -0.0440750705477948 0.00780447651267824 0.995447588657473 0.97550055123568 NA -0.0181352970175583 NA FALSE NA 0 -0.485 NA NA NA NOP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NOP2 NA NA NA ENSG00000111641 ENSE00000715273 intron_variant -0.686354 0.22021 0.16647 0.075938 0.410319723076028 0.0494756 0.0489276422808689 FALSE 6.70264e-05 ENSE00000715278_000 ENSE00000715278 000 12 6672212 6672381 - 35 90 45 NA NA NA NA NA GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA 6563045 6563215 NA NA NA NA NA NA GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA natural 20 179 0.85 0.831471973340313 0.840735986670156 616 637 0.971081257713847 0.926583525406867 0.948832391560357 0.85 0.831471973340313 0.971081257713847 0.926583525406867 0 0 0 0 0.840735986670156 0.948832391560357 0 0 0 FALSE FALSE NA NA NA NA NA NOP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NOP2 NA NA NA ENSG00000111641 ENSE00003498144 NA NA NA NA NA NA NA 0.0489276422808689 FALSE NA ENSE00000715278_004 ENSE00000715278 004 12 6672212 6672381 - 35 90 45 G A 6672277 393 105 GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACTTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA 6563045 6563215 6563110 6563111 6563111 exon -31 0.666666666666667 GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACTTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA mutant NA NA NA NA NA 19 374 0.95 0.813947877612938 0.881973938806469 0.85 0.831471973340313 0.971081257713847 0.926583525406867 NA NA -0.0210812577138466 -0.112635647793929 0.840735986670156 0.948832391560357 NA -0.0668584527538878 NA FALSE NA 0.74 -0.214 . downstream_gene_variant MODIFIER NOP2 HGNC 7867 ENST00000545915 1 NA AGG G,A 8.284e-06 12:6563111 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00003498144 synonymous_variant 1.280414 0.90992 0.69541 0.722319 0.666206115974315 0 0.0489276422808689 FALSE NA ENSE00000715278_012 ENSE00000715278 012 12 6672212 6672381 - 35 90 45 C T 6672340 401 42 GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCACAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA 6563045 6563215 6563173 6563174 6563174 upstr_intron -4 -0.0666666666666667 GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCACAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA mutant NA NA NA NA NA 222 447 0.950273377366724 0.940209551810809 0.945241464588767 0.85 0.831471973340313 0.971081257713847 0.926583525406867 NA NA -0.0208078803471222 0.0136260264039426 0.840735986670156 0.948832391560357 NA -0.0035909269715898 NA FALSE NA 0 -0.404 rs140095660 downstream_gene_variant MODIFIER NOP2 HGNC 7867 ENST00000545915 rs140095660 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0021 T:0 GCG C,T 9.973e-05 12:6563174 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00003498144 splice_region_variant 0.578401 0.23601 0.19994 0.283894 0.551295264464567 0.0496399 0.0489276422808689 FALSE 0.000119338 ENSE00000715278_016 ENSE00000715278 016 12 6672212 6672381 - 35 90 45 G A 6672344 405 38 GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGTCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA 6563045 6563215 6563177 6563178 6563178 upstr_intron -8 -0.155555555555556 GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGTCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA mutant NA NA NA NA NA 172 1386 0.998797499581636 0.999972537367241 0.999385018474439 0.85 0.831471973340313 0.971081257713847 0.926583525406867 NA NA 0.0277162418677895 0.0733890119603742 0.840735986670156 0.948832391560357 NA 0.0505526269140819 NA FALSE NA 0 0.664 . downstream_gene_variant MODIFIER NOP2 HGNC 7867 ENST00000545915 rs373753026 1 NA GGC G,A 5.822e-05 12:6563178 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00003498144 splice_region_variant -0.150377 0.21059 0.19958 0.075938 0.378085330463192 0.0496399 0.0489276422808689 FALSE NA ENSE00000715278_018 ENSE00000715278 018 12 6672212 6672381 - 35 90 45 G A 6672357 407 25 GCTCCTTAGCCAGCCTCACTTATTTCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA 6563045 6563215 6563190 6563191 6563191 upstr_intron -21 -0.444444444444444 GCTCCTTAGCCAGCCTCACTTATTTCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA mutant NA NA NA NA NA 1307 41 0.998414930980593 0.991183832523931 0.994799381752262 0.85 0.831471973340313 0.971081257713847 0.926583525406867 NA NA 0.0273336732667463 0.0646003071170644 0.840735986670156 0.948832391560357 NA 0.0459669901919054 NA FALSE NA 0.001 0.226 . downstream_gene_variant MODIFIER NOP2 HGNC 7867 ENST00000545915 1 NA GGA G,A 1.669e-05 12:6563191 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00003498144 intron_variant 0.808805 0.24392 0.08477 0.075938 0.803296315601798 0.0496399 0.0489276422808689 FALSE NA ENSE00000715278_020 ENSE00000715278 020 12 6672212 6672381 - 35 90 45 A C 6672361 409 21 GCTCCTTAGCCAGCCTCACTGATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA 6563045 6563215 6563194 6563195 6563195 upstr_intron -25 -0.533333333333333 GCTCCTTAGCCAGCCTCACTGATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA GCTCCTTAGCCAGCCTCACTTATTCCCTGCTGTCTTGCCCCGCAGCTGGTGGAGTTCTTAGAAGCTAATGAGGTGCCTCGGCCCGTCACCCTCCGGACCAATACCTTGAAAACCCGACGCCGAGACCTTGCACAGGTGAGGGGTGGCCTTTGAGGCTCACTCATCTCAGA mutant NA NA NA NA NA 41 225 0.95 0.95 0.95 0.85 0.831471973340313 0.971081257713847 0.926583525406867 NA NA -0.0210812577138467 0.0234164745931331 0.840735986670156 0.948832391560357 NA 0.0011676084396432 NA FALSE NA 0 -0.485 . downstream_gene_variant MODIFIER NOP2 HGNC 7867 ENST00000545915 1 NA TAA A,C 8.352e-06 12:6563195 NOP2 HGNC Symbol protein_coding 11828 ENSG00000111641 ENSE00003498144 intron_variant 0.030784 0.19512 0.1623 0.075938 0.603791564268418 0.0496399 0.0489276422808689 FALSE 5.67917e-06 ENSE00000715350_000 ENSE00000715350 000 12 6748082 6748251 - 38 84 48 NA NA NA NA NA TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 NA NA NA NA NA NA TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC natural 89 245 0.772378580127496 0.85 0.811189290063748 3243 1429 0.830122799852913 0.84443016114127 0.837276480497091 0.772378580127496 0.85 0.830122799852913 0.84443016114127 0 0 0 0 0.811189290063748 0.837276480497091 0 0 0 FALSE FALSE NA NA NA NA NA LPAR5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACRBP NA NA NA ENSG00000111644 ENSE00003647799 NA NA NA NA NA NA NA 1.88089650899479e-07 FALSE NA ENSE00000715350_002 ENSE00000715350 002 12 6748082 6748251 - 38 84 48 G A 6748125 411 127 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATTGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6638958 6638959 6638959 exon -6 0.94047619047619 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATTGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant NA NA NA NA NA 114 251 0.805957214991996 0.875660268157131 0.840808741574564 0.772378580127496 0.85 0.830122799852913 0.84443016114127 NA NA -0.024165584860917 0.0312301070158613 0.811189290063748 0.837276480497091 NA 0.00353226107747212 NA FALSE NA 0.002 0.06 . upstream_gene_variant MODIFIER LPAR5 HGNC 13307 ENST00000540335 1 NA CGA G,A 1.647e-05 12:6638959 ACRBP HGNC Symbol protein_coding 9385 ENSG00000111644 ENSE00003647799 missense_variant 3.923183 0.20998 0.09858 0.580535 0.994235609565891 0 1.88089650899479e-07 FALSE 1.2182e-05 ENSE00000715350_005 ENSE00000715350 005 12 6748082 6748251 - 38 84 48 G A 6748131 414 121 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACTGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6638964 6638965 6638965 exon -12 0.869047619047619 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACTGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant NA NA NA NA NA 77 121 0.802090648938769 0.801193596074821 0.801642122506795 0.772378580127496 0.85 0.830122799852913 0.84443016114127 NA NA -0.0280321509141438 -0.0432365650664487 0.811189290063748 0.837276480497091 NA -0.0356343579902962 NA FALSE NA 0.995 0.943 . upstream_gene_variant MODIFIER LPAR5 HGNC 13307 ENST00000540335 COSM1739938 1 NA CGG G,A 4.118e-05 12:6638965 ACRBP HGNC Symbol protein_coding 9385 ENSG00000111644 ENSE00003647799 missense_variant 5.212281 0.84947 0.67613 0.580535 0.996571508489898 0 1.88089650899479e-07 FALSE 3.65461e-05 ENSE00000715350_006 ENSE00000715350 006 12 6748082 6748251 - 38 84 48 C T 6748141 415 111 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTAATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6638974 6638975 6638975 exon -22 0.75 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTAATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant NA NA NA NA NA 49 456 0.8 0.796494473007958 0.798247236503979 0.772378580127496 0.85 0.830122799852913 0.84443016114127 NA NA -0.0301227998529131 -0.0479356881333114 0.811189290063748 0.837276480497091 NA -0.0390292439931123 NA FALSE NA 0.994 0.49 . upstream_gene_variant MODIFIER LPAR5 HGNC 13307 ENST00000540335 1 NA TCA C,T 8.236e-06 12:6638975 ACRBP HGNC Symbol protein_coding 9385 ENSG00000111644 ENSE00003647799 synonymous_variant 1.401498 0.60708 0.47686 0.580535 0.847693212228851 0 1.88089650899479e-07 FALSE 4.06072e-06 ENSE00000715350_007 ENSE00000715350 007 12 6748082 6748251 - 38 84 48 C T 6748147 416 105 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAATGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6638980 6638981 6638981 exon -28 0.678571428571429 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAATGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant 126 68 0.85 0.85 0.85 NA NA NA NA NA 0.772378580127496 0.85 0.830122799852913 0.84443016114127 0.0776214198725035 1.11022302462516e-16 NA NA 0.811189290063748 0.837276480497091 0.0388107099362518 NA NA NA FALSE 1 0.625 . upstream_gene_variant MODIFIER LPAR5 HGNC 13307 ENST00000540335 1 NA ACT C,T 8.236e-06 12:6638981 ACRBP HGNC Symbol protein_coding 9385 ENSG00000111644 ENSE00003647799 synonymous_variant 1.519862 0.91488 0.60455 0.580535 0.865130319662021 0 1.88089650899479e-07 FALSE 4.06062e-06 ENSE00000715350_009 ENSE00000715350 009 12 6748082 6748251 - 38 84 48 G A 6748183 418 69 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATTCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6639016 6639017 6639017 exon 21 0.25 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATTCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant NA NA NA NA NA 120 422 0.127009940624087 0 0.0635049703120433 0.772378580127496 0.85 0.830122799852913 0.84443016114127 NA NA -0.703112859228827 -0.84443016114127 0.811189290063748 0.837276480497091 NA -0.773771510185048 NA TRUE NA 0.998 1.045 . upstream_gene_variant MODIFIER LPAR5 HGNC 13307 ENST00000540335 1 NA GGA G,A 8.236e-06 12:6639017 ACRBP HGNC Symbol protein_coding 9385 ENSG00000111644 ENSE00003647799 synonymous_variant 1.263214 0.88786 0.35939 0.580535 0.875891538597964 0 1.88089650899479e-07 FALSE 1.21822e-05 ENSE00000715350_011 ENSE00000715350 011 12 6748082 6748251 - 38 84 48 A G 6748220 420 32 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCCCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6639053 6639054 6639054 upstr_intron -17 -0.333333333333333 TGGTGAGGCTTCTGATACCCTCTTCCCTCTCCCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant 81 23 0 0 0 161 24 0.0145766460060258 0.0156264550948783 0.015101550550452 0.772378580127496 0.85 0.830122799852913 0.84443016114127 -0.772378580127496 -0.85 -0.815546153846887 -0.828803706046391 0.811189290063748 0.837276480497091 -0.811189290063748 -0.822174929946639 0.0109856398828913 TRUE TRUE 0 -0.563 . upstream_gene_variant MODIFIER LPAR5 HGNC 13307 ENST00000540335 rs373586314 1 NA G:0.0002 G:0 GAG A,G 2.471e-05 12:6639054 ACRBP HGNC Symbol protein_coding 9385 ENSG00000111644 ENSE00003647799 intron_variant 0.279052 0.13313 0.00406 0.108992 0.823232937253618 0.0624472 1.88089650899479e-07 FALSE 8.1248e-06 ENSE00000715350_012 ENSE00000715350 012 12 6748082 6748251 - 38 84 48 G T 6748232 421 20 TGGTGAGGCTTCTGATACCATCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6639065 6639066 6639066 upstr_intron -29 -0.583333333333333 TGGTGAGGCTTCTGATACCATCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant NA NA NA NA NA 37 58 0.923232745074903 0.827578442420176 0.87540559374754 0.772378580127496 0.85 0.830122799852913 0.84443016114127 NA NA 0.0931099452219898 -0.0168517187210933 0.811189290063748 0.837276480497091 NA 0.0381291132504483 NA FALSE NA 0.001 0.401 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:6639066 ACRBP HGNC Symbol protein_coding 9385 ENSG00000111644 ENSE00003647799 intron_variant 0.058353 0.25772 0.14566 0.108992 0.544944964508889 0.0624472 1.88089650899479e-07 FALSE 4.06613e-06 ENSE00000715350_013 ENSE00000715350 013 12 6748082 6748251 - 38 84 48 G A 6748232 422 20 TGGTGAGGCTTCTGATACCTTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6639065 6639066 6639066 upstr_intron -29 -0.583333333333333 TGGTGAGGCTTCTGATACCTTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant NA NA NA NA NA 829 156 0.787177215477351 0.970752751479532 0.878964983478441 0.772378580127496 0.85 0.830122799852913 0.84443016114127 NA NA -0.0429455843755625 0.126322590338262 0.811189290063748 0.837276480497091 NA 0.0416885029813499 NA FALSE NA 0.001 0.401 NA NA NA LPAR5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACRBP NA NA NA ENSG00000111644 ENSE00003647799 intron_variant 0.205341 0.16573 0.02566 0.108992 0.380655364227122 0.0624472 1.88089650899479e-07 FALSE 8.13226e-06 ENSE00000715350_015 ENSE00000715350 015 12 6748082 6748251 - 38 84 48 T C 6748235 424 17 TGGTGAGGCTTCTGATGCCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC 6638915 6639085 6639068 6639069 6639069 upstr_intron -32 -0.645833333333333 TGGTGAGGCTTCTGATGCCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC TGGTGAGGCTTCTGATACCCTCTTCCCTCTCTCTGGCTCTTGGCTTAGATTTGTGACACAGACTATATCCAGTACCCAAACTACTGTTCCTTCAAAAGCCAGCAGTGTCTGATGAGAAACCGCAATCGGAAGGTGAGCACCCCTGCCCTGCCCCTCCTTCTCCCAGCACC mutant NA NA NA NA NA 428 45 0.80922564117426 0.803211126882595 0.806218384028427 0.772378580127496 0.85 0.830122799852913 0.84443016114127 NA NA -0.0208971586786532 -0.0412190342586751 0.811189290063748 0.837276480497091 NA -0.0310580964686641 NA FALSE NA 0 -0.965 . upstream_gene_variant MODIFIER LPAR5 HGNC 13307 ENST00000540335 1 NA GTA T,C 8.236e-06 12:6639069 ACRBP HGNC Symbol protein_coding 9385 ENSG00000111644 ENSE00003647799 intron_variant -0.176339 0.12823 0.02177 0.108992 0.368325606409129 0.0624472 1.88089650899479e-07 FALSE 2.03411e-05 ENSE00000716257_000 ENSE00000716257 000 4 56475237 56475406 - 50 60 60 NA NA NA NA NA CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 NA NA NA NA NA NA CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT natural NA NA NA NA NA 2262 2927 0.991360155560304 0.875888376421496 0.9336242659909 NA NA 0.991360155560304 0.875888376421496 NA NA 0 0 NA 0.9336242659909 NA 0 NA FALSE NA NA NA NA NA NA NMU NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NMU NA NA NA ENSG00000109255 ENSE00003472151 NA NA NA NA NA NA NA 0.00893184170488053 FALSE NA ENSE00000716257_002 ENSE00000716257 002 4 56475237 56475406 - 50 60 60 C G 56475270 702 137 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTCTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609102 55609103 55609103 downstr_intron 17 1.3469387755102 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTCTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 528 131 1 1 1 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.124111623578504 NA 0.9336242659909 NA 0.0663757340090996 NA FALSE NA 0 -1.34 . intron_variant MODIFIER NMU HGNC 7859 ENST00000511469 3/8 1 NA ACA C,G 8.236e-06 4:55609103 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 intron_variant 2.219088 0.23329 0.09714 0.053691 0.81069996260948 0.238791 0.00893184170488053 FALSE 1.62536e-05 ENSE00000716257_003 ENSE00000716257 003 4 56475237 56475406 - 50 60 60 C T 56475272 703 135 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAATGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609104 55609105 55609105 downstr_intron 15 1.30612244897959 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAATGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 570 244 1 0.987911527968165 0.993955763984082 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.112023151546668 NA 0.9336242659909 NA 0.060331497993182 NA FALSE NA 0 -0.545 . intron_variant MODIFIER NMU HGNC 7859 ENST00000511469 3/8 rs200216636 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 ACT C,T 3.295e-05 4:55609105 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 intron_variant 2.20484 0.21824 0.04196 0.053691 0.812531918635591 0.238791 0.00893184170488053 FALSE 1.21902e-05 ENSE00000716257_006 ENSE00000716257 006 4 56475237 56475406 - 50 60 60 G A 56475297 706 110 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACTAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609129 55609130 55609130 exon -11 0.833333333333333 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACTAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 19 25 1 1 1 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.124111623578504 NA 0.9336242659909 NA 0.0663757340090996 NA FALSE NA 1 1.92 . missense_variant MODERATE NMU HGNC 7859 ENST00000511469 3/9 rs377509274 1 tolerated(0.15) benign(0.229) NA A:0.0002 A:0 TGG G,A 8.236e-06 4:55609130 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 missense_variant 0.899383 0.86596 0.6602 0.706298 0.890290580056401 0 0.00893184170488053 FALSE 4.06273e-06 ENSE00000716257_007 ENSE00000716257 007 4 56475237 56475406 - 50 60 60 C T 56475306 707 101 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGAAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609138 55609139 55609139 exon -20 0.683333333333333 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGAAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 37 110 1 1 1 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.124111623578504 NA 0.9336242659909 NA 0.0663757340090996 NA FALSE NA 0.999 1.087 . missense_variant MODERATE NMU HGNC 7859 ENST00000511469 3/9 1 tolerated(0.32) benign(0.009) NA TCC C,T 8.236e-06 4:55609139 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 missense_variant 1.659877 0.7407 0.56113 0.706298 0.821702064921141 0 0.00893184170488053 FALSE 4.06227e-06 ENSE00000716257_008 ENSE00000716257 008 4 56475237 56475406 - 50 60 60 T C 56475316 708 91 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTGTGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609148 55609149 55609149 exon -30 0.516666666666667 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTGTGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 611 216 1 0.987456030965565 0.993728015482783 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.111567654544069 NA 0.9336242659909 NA 0.0601037494918822 NA FALSE NA 0 -0.379 rs143044766 missense_variant MODERATE NMU HGNC 7859 ENST00000511469 3/9 rs143044766 1 tolerated(0.34) benign(0) NA C:0.0002 C:0 ATA T,C 8.236e-06 4:55609149 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 missense_variant -1.796801 0.20932 0.05172 0.706298 0.34579900470757 0 0.00893184170488053 FALSE 4.06227e-06 ENSE00000716257_010 ENSE00000716257 010 4 56475237 56475406 - 50 60 60 C T 56475328 710 79 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGAAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609160 55609161 55609161 exon 19 0.316666666666667 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGAAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 1072 326 0.999692480141747 0.987932837057276 0.993812658599511 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00833232458144229 0.112044460635779 NA 0.9336242659909 NA 0.0601883926086109 NA FALSE NA 1 2.795 . missense_variant MODERATE NMU HGNC 7859 ENST00000511469 3/9 1 deleterious(0.03) benign(0.046) NA TCC C,T 8.236e-06 4:55609161 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 missense_variant 3.561697 0.93417 0.83324 0.706298 0.996057498128009 0 0.00893184170488053 FALSE 8.12427e-06 ENSE00000716257_011 ENSE00000716257 011 4 56475237 56475406 - 50 60 60 T C 56475330 711 77 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGGGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609162 55609163 55609163 exon 17 0.283333333333333 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGGGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 214 193 1 1 1 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.124111623578504 NA 0.9336242659909 NA 0.0663757340090996 NA FALSE NA 1 2.039 rs35892915 missense_variant MODERATE NMU HGNC 7859 ENST00000511469 3/9 rs35892915 1 tolerated(0.05) benign(0.234) C:0.0228 C:0.0847 C:0.0029 NA C:0 C:0 C:0 C:0.0708 C:0.0006 CTC T,C 0.00649 4:55609163 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 missense_variant 2.054685 0.90108 0.56652 0.706298 0.995898344050512 0 0.00893184170488053 FALSE 0.00500451 ENSE00000716257_012 ENSE00000716257 012 4 56475237 56475406 - 50 60 60 T C 56475335 712 72 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCGCTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609167 55609168 55609168 exon 12 0.2 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCGCTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 340 56 1 1 1 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.124111623578504 NA 0.9336242659909 NA 0.0663757340090996 NA FALSE NA 0.704 0.223 NA NA NA NMU NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:55609168 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 synonymous_variant -0.592377 0.26997 0.23337 0.706298 0.418406739194515 0 0.00893184170488053 FALSE 2.03115e-05 ENSE00000716257_015 ENSE00000716257 015 4 56475237 56475406 - 50 60 60 G A 56475338 715 69 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAATGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609170 55609171 55609171 exon 9 0.15 CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAATGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 483 95 0.998283354674073 0.998331571749038 0.998307463211555 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00692319911376826 0.122443195327541 NA 0.9336242659909 NA 0.0646831972206547 NA FALSE NA 0 -0.449 rs3805383 synonymous_variant LOW NMU HGNC 7859 ENST00000511469 3/9 rs3805383 1 A:0.1971 A:0.1362 A:0.1844 NA A:0.1042 A:0.2783 A:0.3006 A:0.1493 A:0.2488 CGT A,A 0.231 4:55609171 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 synonymous_variant -0.093594 0.13952 0.0118 0.706298 0.339448999599819 0 0.00893184170488053 FALSE 0.231288 ENSE00000716257_019 ENSE00000716257 019 4 56475237 56475406 - 50 60 60 T C 56475376 719 31 CTTCTATGTAAATGTCGTTAAAGCAGAAGCGTAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609208 55609209 55609209 upstr_intron -30 -0.483333333333333 CTTCTATGTAAATGTCGTTAAAGCAGAAGCGTAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 330 18 1 1 1 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.124111623578504 NA 0.9336242659909 NA 0.0663757340090996 NA FALSE NA 0 -0.644 . intron_variant MODIFIER NMU HGNC 7859 ENST00000511469 2/8 1 NA ATG T,C 8.237e-06 4:55609209 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 intron_variant 0.696967 0.21331 0.09934 0.053691 0.613102077213119 0.0688727 0.00893184170488053 FALSE 4.06454e-06 ENSE00000716257_021 ENSE00000716257 021 4 56475237 56475406 - 50 60 60 C G 56475378 721 29 CTTCTATGTAAATGTCGTTAAAGCAGAACCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609210 55609211 55609211 upstr_intron -32 -0.516666666666667 CTTCTATGTAAATGTCGTTAAAGCAGAACCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 385 181 1 0.986662231953081 0.993331115976541 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.110773855531585 NA 0.9336242659909 NA 0.0597068499856404 NA FALSE NA 0 -0.581 NA NA NA NMU NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:55609211 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 intron_variant 1.065875 0.23886 0.1169 0.053691 0.685628423139552 0.0688727 0.00893184170488053 FALSE 4.06504e-06 ENSE00000716257_022 ENSE00000716257 022 4 56475237 56475406 - 50 60 60 T G 56475382 722 25 CTTCTATGTAAATGTCGTTAAAGCCGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609214 55609215 55609215 upstr_intron -36 -0.583333333333333 CTTCTATGTAAATGTCGTTAAAGCCGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 129 1125 1 0.999825523189213 0.999912761594607 NA NA 0.991360155560304 0.875888376421496 NA NA 0.00863984443969568 0.123937146767717 NA 0.9336242659909 NA 0.0662884956037062 NA FALSE NA 0.011 0.373 . intron_variant MODIFIER NMU HGNC 7859 ENST00000511469 2/8 1 NA CTG T,G 1.647e-05 4:55609215 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 intron_variant 1.241607 0.33643 0.28385 0.053691 0.7738992819509 0.0688727 0.00893184170488053 FALSE 8.13345e-06 ENSE00000716257_027 ENSE00000716257 027 4 56475237 56475406 - 50 60 60 T C 56475395 727 12 CTTCTATGTAAGTGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT 55609069 55609239 55609227 55609228 55609228 upstr_intron -49 -0.8 CTTCTATGTAAGTGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT CTTCTATGTAAATGTCGTTAAAGCAGAAGCATAACTTACATATCTTCTCATTTCTGTTAGGCATCCAACGCACTGGAGGAGCTTTGCTTTATGATTATGGGAATGCTACCAAAGCCTCAGGTAAGCTTGAAATAGTGTTTTGTTTGTAGACAAAAATTATCCAAAAATTT mutant NA NA NA NA NA 260 66 0.969143835270238 1 0.984571917635119 NA NA 0.991360155560304 0.875888376421496 NA NA -0.0222163202900666 0.124111623578504 NA 0.9336242659909 NA 0.0509476516442185 NA FALSE NA 0 0.081 . intron_variant MODIFIER NMU HGNC 7859 ENST00000511469 2/8 1 NA ATT T,C 1.647e-05 4:55609228 NMU HGNC Symbol protein_coding 41469 ENSG00000109255 ENSE00003472151 intron_variant 0.114028 0.28821 0.12647 0.053691 0.386792037002193 0.0688727 0.00893184170488053 FALSE 8.14425e-06 ENSE00000716285_000 ENSE00000716285 000 12 7087729 7087898 - 36 87 47 NA NA NA NA NA GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 NA NA NA NA NA NA GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC natural 278 331 0.848025804584215 0.784081995288529 0.816053899936372 1643 1672 0.840332735543628 0.888690409633048 0.864511572588338 0.848025804584215 0.784081995288529 0.840332735543628 0.888690409633048 0 0 0 0 0.816053899936372 0.864511572588338 0 0 0 FALSE FALSE NA NA NA NA NA LPCAT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LPCAT3 NA NA NA ENSG00000111684 ENSE00003491007 NA NA NA NA NA NA NA 0.980678848782637 TRUE NA ENSE00000716285_BRK ENSE00000716285 BRK 12 7087729 7087898 - 36 87 47 A,G; T,T NA NA NA GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCATTAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACACCAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 NA NA NA NA NA NA GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCATTAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACACCAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC control 14 132 0 0 0 129 156 0.0375927584272107 0.0423650589210951 0.0399789086741529 0.848025804584215 0.784081995288529 0.840332735543628 0.888690409633048 -0.848025804584215 -0.784081995288529 -0.802739977116417 -0.846325350711953 0.816053899936372 0.864511572588338 -0.816053899936372 -0.824532663914185 0.008478763977813 TRUE TRUE NA NA NA NA NA LPCAT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LPCAT3 NA NA NA ENSG00000111684 ENSE00003491007 NA NA NA NA NA NA NA 0.980678848782637 TRUE NA ENSE00000716908_000 ENSE00000716908 000 7 111386352 111386521 - 38 84 48 NA NA NA NA NA TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT 111746295 111746465 NA NA NA NA NA NA TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT natural NA NA NA NA NA 1351 371 0.987645165027349 0.973173215555007 0.980409190291178 NA NA 0.987645165027349 0.973173215555007 NA NA 0 0 NA 0.980409190291178 NA 0 NA FALSE NA NA NA NA NA NA DOCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK4 NA NA NA ENSG00000128512 ENSE00000716908 NA NA NA NA NA NA NA 0.998535732717338 TRUE NA ENSE00000716908_007 ENSE00000716908 007 7 111386352 111386521 - 38 84 48 T A 111386406 2264 116 TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGTGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT 111746295 111746465 111746349 111746350 111746350 exon -17 0.80952380952381 TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGTGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT mutant NA NA NA NA NA 219 130 0.924823788005503 0.961913956860401 0.943368872432952 NA NA 0.987645165027349 0.973173215555007 NA NA -0.0628213770218462 -0.0112592586946053 NA 0.980409190291178 NA -0.0370403178582258 NA FALSE NA 1 7.808 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000445943 44/53 1 tolerated(0.06) probably_damaging(0.997) NA CTC T,A 8.275e-06 7:111746350 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716908 missense_variant 6.134739 0.99285 0.98809 0.645754 0.978913279181472 0 0.998535732717338 TRUE 4.09467e-06 ENSE00000716908_011 ENSE00000716908 011 7 111386352 111386521 - 38 84 48 A G 111386421 2268 101 TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAACTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT 111746295 111746465 111746364 111746365 111746365 exon -32 0.630952380952381 TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAACTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT mutant NA NA NA NA NA 83 22 1 1 1 NA NA 0.987645165027349 0.973173215555007 NA NA 0.012354834972651 0.0268267844449933 NA 0.980409190291178 NA 0.0195908097088222 NA FALSE NA 1 9.069 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000445943 44/53 1 deleterious(0) probably_damaging(0.998) NA AAT A,G 3.311e-05 7:111746365 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716908 missense_variant 6.430446 0.99305 0.99213 0.645754 0.998788224272063 0 0.998535732717338 TRUE 2.04559e-05 ENSE00000716908_017 ENSE00000716908 017 7 111386352 111386521 - 38 84 48 G A 111386482 2274 40 TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCTCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT 111746295 111746465 111746425 111746426 111746426 upstr_intron -9 -0.166666666666667 TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCTCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT mutant NA NA NA NA NA 593 334 1 0.993821631954448 0.996910815977224 NA NA 0.987645165027349 0.973173215555007 NA NA 0.012354834972651 0.0206484163994414 NA 0.980409190291178 NA 0.0165016256860462 NA FALSE NA 0 0.691 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000445943 43/52 1 NA GGG G,A 9.113e-05 7:111746426 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716908 intron_variant 0.613306 0.15787 0.00231 0.0869 0.540521659495024 0.0758477 0.998535732717338 TRUE 8.70625e-05 ENSE00000716908_020 ENSE00000716908 020 7 111386352 111386521 - 38 84 48 T C 111386504 2277 18 TTGCCTTGTACTCCACTGAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT 111746295 111746465 111746447 111746448 111746448 upstr_intron -31 -0.625 TTGCCTTGTACTCCACTGAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT TTGCCTTGTACTCCACTAAAGTAGACTGATTCTCCTTTCCCTTACTAGGCATTCTTTGTCAAAGAATATATCTTAAGTCACCCTGAAGATGGGGAGAAAATTGCACGATTAAGAGAGCTGATGCTTGAGCAGGTAAGGGAAGCAGAAGCCAACCCCCTTCTATTTTGCCT mutant NA NA NA NA NA 145 236 1 1 1 NA NA 0.987645165027349 0.973173215555007 NA NA 0.012354834972651 0.0268267844449933 NA 0.980409190291178 NA 0.0195908097088222 NA FALSE NA 0.011 -0.341 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000445943 43/52 1 NA TTA T,C 1.297e-05 7:111746448 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716908 intron_variant 0.041061 0.14183 0.01045 0.078485 0.770790089484273 0.046323 0.998535732717338 TRUE NA ENSE00000716949_000 ENSE00000716949 000 7 111395535 111395704 - 36 87 47 NA NA NA NA NA AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 NA NA NA NA NA NA AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT natural NA NA NA NA NA 1412 1234 0.999101350444357 0.999318616693777 0.999209983569067 NA NA 0.999101350444357 0.999318616693777 NA NA 0 0 NA 0.999209983569067 NA 0 NA FALSE NA NA NA NA NA NA DOCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK4 NA NA NA ENSG00000128512 ENSE00000716949 NA NA NA NA NA NA NA 0.998535732717338 TRUE NA ENSE00000716949_002 ENSE00000716949 002 7 111395535 111395704 - 36 87 47 T C 111395547 2279 158 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAGGCACTTTCTCAT 111755478 111755648 111755490 111755491 111755491 downstr_intron 24 1.68571428571429 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAGGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 50 774 1 0.999506789913313 0.999753394956656 NA NA 0.999101350444357 0.999318616693777 NA NA 0.000898649555642672 0.000188173219536347 NA 0.999209983569067 NA 0.00054341138758951 NA FALSE NA 0 -0.289 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000445943 42/52 1 NA CTT T,C 2.481e-05 7:111755491 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 intron_variant 0.231871 0.19102 0.02181 0.067858 0.434178658535921 0.084536 0.998535732717338 TRUE 4.06848e-06 ENSE00000716949_006 ENSE00000716949 006 7 111395535 111395704 - 36 87 47 G A 111395562 2283 143 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATTAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755505 111755506 111755506 downstr_intron 9 1.25714285714286 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATTAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 83 217 1 0.999118265753059 0.999559132876529 NA NA 0.999101350444357 0.999318616693777 NA NA 0.000898649555642672 -0.000200350940717797 NA 0.999209983569067 NA 0.000349149307462437 NA FALSE NA 0.004 0.779 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000445943 42/52 1 NA TGA G,A 8.27e-06 7:111755506 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 intron_variant 0.520929 0.26364 0.04018 0.067858 0.62843729142998 0.0951742 0.998535732717338 TRUE 4.06431e-06 ENSE00000716949_007 ENSE00000716949 007 7 111395535 111395704 - 36 87 47 C T 111395578 2284 127 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCATGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755521 111755522 111755522 exon -8 0.919540229885057 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCATGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 101 76 1 0.984022047445066 0.992011023722533 NA NA 0.999101350444357 0.999318616693777 NA NA 0.000898649555642672 -0.0152965692487108 NA 0.999209983569067 NA -0.00719895984653407 NA FALSE NA 1 7.653 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:111755522 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 missense_variant 8.352565 0.99432 0.98606 0.67177 0.999363100366622 0 0.998535732717338 TRUE 3.65681e-05 ENSE00000716949_008 ENSE00000716949 008 7 111395535 111395704 - 36 87 47 C A 111395578 2285 127 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCTTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755521 111755522 111755522 exon -8 0.919540229885057 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCTTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 197 13 0.976638099945771 1 0.988319049972886 NA NA 0.999101350444357 0.999318616693777 NA NA -0.0224632504985861 0.000681383306223471 NA 0.999209983569067 NA -0.0108909335961813 NA FALSE NA 1 7.653 NA NA NA DOCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK4 NA NA NA ENSG00000128512 ENSE00000716949 missense_variant 7.379098 0.99456 0.98896 0.67177 0.997478310255865 0 0.998535732717338 TRUE 4.06312e-06 ENSE00000716949_014 ENSE00000716949 014 7 111395535 111395704 - 36 87 47 T C 111395618 2291 87 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGGGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755561 111755562 111755562 exon 40 0.459770114942529 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGGGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 354 497 1 1 1 NA NA 0.999101350444357 0.999318616693777 NA NA 0.000898649555642672 0.000681383306223471 NA 0.999209983569067 NA 0.000790016430933072 NA FALSE NA 1 6.025 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000445943 42/53 1 tolerated(0.14) benign(0.178) NA CTC T,C 8.273e-06 7:111755562 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 missense_variant 2.850395 0.9872 0.96328 0.67177 0.992514310495822 0 0.998535732717338 TRUE 4.06154e-06 ENSE00000716949_015 ENSE00000716949 015 7 111395535 111395704 - 36 87 47 C A 111395624 2292 81 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGTTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755567 111755568 111755568 exon 34 0.390804597701149 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGTTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 306 127 0.984048025845817 1 0.992024012922909 NA NA 0.999101350444357 0.999318616693777 NA NA -0.0150533245985404 0.000681383306223471 NA 0.999209983569067 NA -0.00718597064615845 NA FALSE NA 1 2.629 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000445943 42/53 1 tolerated(0.1) benign(0.014) NA ACC C,A 8.273e-06 7:111755568 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 missense_variant 3.939288 0.99095 0.95401 0.67177 0.99459214102285 0 0.998535732717338 TRUE 1.21846e-05 ENSE00000716949_016 ENSE00000716949 016 7 111395535 111395704 - 36 87 47 A C 111395633 2293 72 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCAGTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755576 111755577 111755577 exon 25 0.28735632183908 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCAGTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 120 106 1 0.991689444655023 0.995844722327512 NA NA 0.999101350444357 0.999318616693777 NA NA 0.000898649555642672 -0.00762917203875346 NA 0.999209983569067 NA -0.0033652612415554 NA FALSE NA 0.112 0.594 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000445943 42/53 1 deleterious(0.04) probably_damaging(0.99) NA AAT A,C 8.273e-06 7:111755577 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 missense_variant 4.688926 0.93889 0.39594 0.67177 0.997464090126233 0 0.998535732717338 TRUE 4.06154e-06 ENSE00000716949_018 ENSE00000716949 018 7 111395535 111395704 - 36 87 47 G A 111395638 2295 67 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAATGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755581 111755582 111755582 exon 20 0.229885057471264 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAATGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 268 843 0.957716929109047 0.965607711023904 0.961662320066475 NA NA 0.999101350444357 0.999318616693777 NA NA -0.0413844213353106 -0.0337109056698726 NA 0.999209983569067 NA -0.0375476635025916 NA FALSE NA 1 9.661 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000445943 42/53 COSM1084083&COSM1596667 1 deleterious(0.01) possibly_damaging(0.904) NA CGT G,A 8.273e-06 7:111755582 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 missense_variant 7.472147 0.99447 0.99204 0.67177 0.998806577797223 0 0.998535732717338 TRUE 4.0622e-06 ENSE00000716949_021 ENSE00000716949 021 7 111395535 111395704 - 36 87 47 A G 111395669 2298 36 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTCGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755612 111755613 111755613 upstr_intron -12 -0.234042553191489 AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTCGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 177 21 1 1 1 NA NA 0.999101350444357 0.999318616693777 NA NA 0.000898649555642672 0.000681383306223471 NA 0.999209983569067 NA 0.000790016430933072 NA FALSE NA 0.354 4.542 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000445943 41/52 1 NA CAA A,G 8.274e-06 7:111755613 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 intron_variant -0.204182 0.2821 0.85351 0.067858 0.600473844536473 0.14089 0.998535732717338 TRUE 8.13134e-06 ENSE00000716949_024 ENSE00000716949 024 7 111395535 111395704 - 36 87 47 T C 111395692 2301 13 AGAAAGAAGGGCGACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT 111755478 111755648 111755635 111755636 111755636 upstr_intron -35 -0.723404255319149 AGAAAGAAGGGCGACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT AGAAAGAAGGGCAACTTGGGAGACTTAATGTGTTTTGTGTTTTGTAGAGTCTCTGGGTGGAGAGAACGTCATTATACTTGGTGCAGAGTTTGCCTGGCATCTCTCGCTGGTTTGAAGTGGAAAAGCGTGAAGTGGTAAGGATCAGAGCTTGTTCTCAAGCACTTTCTCAT mutant NA NA NA NA NA 542 742 1 0.996521620012569 0.998260810006285 NA NA 0.999101350444357 0.999318616693777 NA NA 0.000898649555642672 -0.00279699668120736 NA 0.999209983569067 NA -0.000949173562782346 NA FALSE NA 0 -0.529 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000445943 41/52 rs376961242 1 NA C:0 C:0.0001 TTG T,C 8.273e-06 7:111755636 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00000716949 intron_variant -0.079499 0.18558 0.07842 0.069865 0.378340979488959 0.0969417 0.998535732717338 TRUE 8.18847e-06 ENSE00000717749_000 ENSE00000717749 000 19 48634301 48634470 - 32 96 42 NA NA NA NA NA TGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCC 48131043 48131213 NA NA NA NA NA NA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA natural NA NA NA NA NA 738 859 0.997349259949093 0.994520930084707 0.9959350950169 NA NA 0.997349259949093 0.994520930084707 NA NA 0 0 NA 0.9959350950169 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIG1 NA NA NA ENSG00000105486 ENSE00003550714 NA NA NA NA NA NA NA 0.0177050971960458 FALSE NA ENSE00000717749_004 ENSE00000717749 004 19 48634301 48634470 - 32 96 42 G A 48634316 2840 155 TGGCAGAGTGCAAGTATGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCC 48131043 48131213 48131058 48131059 48131059 downstr_intron 17 1.54838709677419 GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACATACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA mutant NA NA NA NA NA 37 28 1 1 1 NA NA 0.997349259949093 0.994520930084707 NA NA 0.00265074005090715 0.00547906991529257 NA 0.9959350950169 NA 0.00406490498309986 NA FALSE NA 0 0.685 NA NA NA LIG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:48131059 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003550714 intron_variant 0.131002 0.18723 0.01713 0.295142 0.240268170127802 0.0460981 0.0177050971960458 FALSE 8.13206e-06 ENSE00000717749_006 ENSE00000717749 006 19 48634301 48634470 - 32 96 42 A T 48634323 2842 148 TGGCAGAGTGCAAGTGTGTGGCTGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCC 48131043 48131213 48131065 48131066 48131066 downstr_intron 10 1.32258064516129 GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCAGCCACACACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA mutant NA NA NA NA NA 36 468 1 1 1 NA NA 0.997349259949093 0.994520930084707 NA NA 0.00265074005090715 0.00547906991529257 NA 0.9959350950169 NA 0.00406490498309986 NA FALSE NA 0.002 0.541 . intron_variant MODIFIER LIG1 HGNC 6598 ENST00000536218 17/25 1 NA CAG A,T 8.236e-06 19:48131066 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003550714 intron_variant 0.411093 0.17691 0.04545 0.295142 0.738775794007747 0.108045 0.0177050971960458 FALSE 8.12988e-06 ENSE00000717749_016 ENSE00000717749 016 19 48634301 48634470 - 32 96 42 G A 48634358 2852 113 TGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCAGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCC 48131043 48131213 48131100 48131101 48131101 exon -26 0.739583333333333 GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCTGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA mutant NA NA NA NA NA 200 3010 1 0.998841080939176 0.999420540469588 NA NA 0.997349259949093 0.994520930084707 NA NA 0.00265074005090715 0.00432015085446857 NA 0.9959350950169 NA 0.00348544545268786 NA FALSE NA 1 9.065 . missense_variant MODERATE LIG1 HGNC 6598 ENST00000536218 17/26 1 deleterious(0) probably_damaging(0.998) NA CGG G,A 1.647e-05 19:48131101 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003550714 missense_variant 7.472167 0.99253 0.99374 0.706548 0.999034719843543 0 0.0177050971960458 FALSE 1.21865e-05 ENSE00000717749_017 ENSE00000717749 017 19 48634301 48634470 - 32 96 42 T C 48634382 2853 89 TGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCCGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCC 48131043 48131213 48131124 48131125 48131125 exon 47 0.489583333333333 GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCGGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA mutant NA NA NA NA NA 387 55 1 1 1 NA NA 0.997349259949093 0.994520930084707 NA NA 0.00265074005090715 0.00547906991529257 NA 0.9959350950169 NA 0.00406490498309986 NA FALSE NA 1 7.414 . missense_variant MODERATE LIG1 HGNC 6598 ENST00000536218 17/26 1 tolerated(0.05) probably_damaging(0.92) NA CTG T,C 1.647e-05 19:48131125 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003550714 missense_variant 5.898812 0.98996 0.99047 0.706548 0.998531012398606 0 0.0177050971960458 FALSE 8.12354e-06 ENSE00000717749_022 ENSE00000717749 022 19 48634301 48634470 - 32 96 42 G A 48634411 2858 60 TGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCACCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCC 48131043 48131213 48131153 48131154 48131154 exon 18 0.1875 GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGTGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA mutant NA NA NA NA NA 460 633 0.998650258702498 0.931444786516263 0.96504752260938 NA NA 0.997349259949093 0.994520930084707 NA NA 0.00130099875340506 -0.0630761435684444 NA 0.9959350950169 NA -0.0308875724075197 NA FALSE NA 0.924 -0.003 . synonymous_variant LOW LIG1 HGNC 6598 ENST00000536218 17/26 COSM1394990 1 NA CGC G,A 8.236e-06 19:48131154 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003550714 synonymous_variant 1.713022 0.83316 0.4278 0.706548 0.744882838938963 0 0.0177050971960458 FALSE 1.21929e-05 ENSE00000717749_033 ENSE00000717749 033 19 48634301 48634470 - 32 96 42 G A 48634446 2869 25 TGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAAGGAGGGGAAATCAGCTGAGTCCCC 48131043 48131213 48131188 48131189 48131189 upstr_intron -18 -0.404761904761905 GGGGACTCAGCTGATTTCCCCTCCTTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA mutant NA NA NA NA NA 104 115 1 1 1 NA NA 0.997349259949093 0.994520930084707 NA NA 0.00265074005090715 0.00547906991529257 NA 0.9959350950169 NA 0.00406490498309986 NA FALSE NA 0 -0.524 . intron_variant MODIFIER LIG1 HGNC 6598 ENST00000536218 16/25 1 NA AGG G,A 8.236e-06 19:48131189 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003550714 intron_variant 0.612024 0.24068 0.04201 0.099367 0.627540497572751 0.116681 0.0177050971960458 FALSE 4.07631e-06 ENSE00000717749_034 ENSE00000717749 034 19 48634301 48634470 - 32 96 42 G A 48634448 2870 23 TGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGAAGGGGAAATCAGCTGAGTCCCC 48131043 48131213 48131190 48131191 48131191 upstr_intron -20 -0.452380952380952 GGGGACTCAGCTGATTTCCCCTTCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA mutant NA NA NA NA NA 301 30 1 1 1 NA NA 0.997349259949093 0.994520930084707 NA NA 0.00265074005090715 0.00547906991529257 NA 0.9959350950169 NA 0.00406490498309986 NA FALSE NA 0 0.95 . intron_variant MODIFIER LIG1 HGNC 6598 ENST00000536218 16/25 rs376753509 1 NA A:0 A:0.0001 GGA G,A 1.647e-05 19:48131191 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003550714 intron_variant 0.815719 0.16974 0.03945 0.099367 0.584759317585433 0.0726463 0.0177050971960458 FALSE 4.07807e-06 ENSE00000717749_037 ENSE00000717749 037 19 48634301 48634470 - 32 96 42 A C 48634459 2873 12 TGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCCGCTGAGTCCCC 48131043 48131213 48131201 48131202 48131202 upstr_intron -31 -0.714285714285714 GGGGACTCAGCGGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA GGGGACTCAGCTGATTTCCCCTCCCTTCTCCCATCGTGACAGATCCACGCCCTGGAAGGCGGGGAGGTGAAGATCTTCAGCAGGAATCAGGAAGACAACACTGGGAAGTACCCGGACATCATCAGCCGCATCCCCAAGGTGGGCGTCTGCCACACACTTGCACTCTGCCA mutant NA NA NA NA NA 110 18 0.988619653488778 1 0.994309826744389 NA NA 0.997349259949093 0.994520930084707 NA NA -0.00872960646031484 0.00547906991529257 NA 0.9959350950169 NA -0.00162526827251114 NA FALSE NA 0.979 5.614 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:48131202 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003550714 intron_variant 0.60292 0.20466 0.87092 0.099367 0.813267099069563 0.0810219 0.0177050971960458 FALSE 4.09189e-05 ENSE00000717752_000 ENSE00000717752 000 19 48630490 48630659 - 44 72 54 NA NA NA NA NA CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 NA NA NA NA NA NA CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG natural 106 96 0.921483749622509 0.934121880397352 0.92780281500993 1129 3437 0.959355432010732 0.987834302815328 0.97359486741303 0.921483749622509 0.934121880397352 0.959355432010732 0.987834302815328 0 0 0 0 0.92780281500993 0.97359486741303 0 0 0 FALSE FALSE NA NA NA NA NA LIG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIG1 NA NA NA ENSG00000105486 ENSE00003473795 NA NA NA NA NA NA NA 0.0177050971960458 FALSE NA ENSE00000717752_BRK ENSE00000717752 BRK 19 48630490 48630659 - 44 72 54 A,G; T,T NA NA NA CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCTTGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGCCGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 NA NA NA NA NA NA CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCTTGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGCCGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG control 25 247 0 0.156313461341553 0.0781567306707765 NA NA NA NA NA 0.921483749622509 0.934121880397352 0.959355432010732 0.987834302815328 -0.921483749622509 -0.777808419055799 NA NA 0.92780281500993 0.97359486741303 -0.849646084339154 NA NA NA TRUE NA NA NA NA NA LIG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIG1 NA NA NA ENSG00000105486 ENSE00003473795 NA NA NA NA NA NA NA 0.0177050971960458 FALSE NA ENSE00000718333_000 ENSE00000718333 000 5 223550 223719 + 47 87 36 NA NA NA NA NA TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 NA NA NA NA NA NA TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT natural 98 75 0.998345290139059 0.985315849824429 0.991830569981744 12282 10394 0.904067984687984 0.949271268663809 0.926669626675897 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 0 0 0 0 0.991830569981744 0.926669626675897 0 0 0 FALSE FALSE NA NA NA NA NA SDHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SDHA NA NA NA ENSG00000073578 ENSE00003590655 NA NA NA NA NA NA NA 9.3872916167157e-06 FALSE NA ENSE00000718333_001 ENSE00000718333 001 5 223550 223719 + 47 87 36 C T 223585 31 36 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTTTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223469 223470 223470 upstr_intron -12 -0.234042553191489 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTTTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 1123 119 0.999485824435558 1 0.999742912217779 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0954178397475743 0.0507287313361909 0.991830569981744 0.926669626675897 NA 0.0730732855418826 NA FALSE NA 0.001 -1.173 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA TCT C,T 8.236e-06 5:223470 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 intron_variant 0.509541 0.51596 0.03846 0.12189 0.615671198993921 0.294662 9.3872916167157e-06 FALSE 8.13134e-06 ENSE00000718333_002 ENSE00000718333 002 5 223550 223719 + 47 87 36 C T 223594 32 45 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCTAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223478 223479 223479 upstr_intron -3 -0.0425531914893617 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCTAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 18 308 1 0.981051325307735 0.990525662653867 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0959320153120159 0.0317800566439255 0.991830569981744 0.926669626675897 NA 0.0638560359779707 NA FALSE NA 0.957 1.475 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA CCA C,T 1.647e-05 5:223479 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 splice_region_variant 0.952864 0.86024 0.77725 0.12189 0.559302170943195 0.846924 9.3872916167157e-06 FALSE 4.06577e-06 ENSE00000718333_003 ENSE00000718333 003 5 223550 223719 + 47 87 36 A C 223595 33 46 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCCGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223479 223480 223480 upstr_intron -2 -0.0212765957446809 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCCGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 424 394 0.995447879111836 0.997846283707444 0.99664708140964 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.091379894423852 0.0485750150436349 0.991830569981744 0.926669626675897 NA 0.0699774547337434 NA FALSE NA 0.998 5.509 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA CAG A,C 8.236e-06 5:223480 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 splice_acceptor_variant 2.992458 0.89976 0.95063 0.12189 0.979921860787766 0.951922 9.3872916167157e-06 FALSE 4.0657e-06 ENSE00000718333_005 ENSE00000718333 005 5 223550 223719 + 47 87 36 G C 223608 35 59 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTCTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223492 223493 223493 exon 12 0.137931034482759 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTCTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 1013 674 0.990796281703304 0.999943516110942 0.995369898907123 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0867282970153195 0.0506722474471333 0.991830569981744 0.926669626675897 NA 0.0687002722312264 NA FALSE NA 0 -1.35 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA TGT G,C 8.236e-06 5:223493 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant -0.439157 0.11266 0.03419 0.732398 0.434998945312414 0 9.3872916167157e-06 FALSE 4.06564e-06 ENSE00000718333_006 ENSE00000718333 006 5 223550 223719 + 47 87 36 A C 223614 36 65 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCACACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223498 223499 223499 exon 18 0.206896551724138 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCACACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 15 1354 1 0.997921432816134 0.998960716408067 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0959320153120159 0.0486501641523247 0.991830569981744 0.926669626675897 NA 0.0722910897321703 NA FALSE NA 0 -0.496 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA AAA A,C 1.647e-05 5:223499 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant -1.25366 0.14276 0.06189 0.732398 0.663997300653056 0 9.3872916167157e-06 FALSE 1.21969e-05 ENSE00000718333_008 ENSE00000718333 008 5 223550 223719 + 47 87 36 G A 223625 38 76 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCAAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223509 223510 223510 exon 29 0.333333333333333 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCAAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 1676 511 0.999852579950789 0.98924249623258 0.994547538091685 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0957845952628052 0.0399712275687708 0.991830569981744 0.926669626675897 NA 0.067877911415788 NA FALSE NA 0.79 4.814 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA CGA G,A 1.647e-05 5:223510 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 4.207981 0.54676 0.66948 0.732398 0.977845534193977 0 9.3872916167157e-06 FALSE 1.62625e-05 ENSE00000718333_009 ENSE00000718333 009 5 223550 223719 + 47 87 36 T C 223636 39 87 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACCTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223520 223521 223521 exon 40 0.459770114942529 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACCTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 2073 934 0.99701185287302 0.999386458180001 0.998199155526511 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0929438681850359 0.0501151895161924 0.991830569981744 0.926669626675897 NA 0.0715295288506141 NA FALSE NA 1 3.714 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA CTT T,C 8.236e-06 5:223521 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 2.35462 0.90426 0.83943 0.732398 0.951385388585547 0 9.3872916167157e-06 FALSE 4.06564e-06 ENSE00000718333_010 ENSE00000718333 010 5 223550 223719 + 47 87 36 A G 223639 40 90 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCGCTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223523 223524 223524 exon 43 0.494252873563218 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCGCTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 687 1190 0.991842224389027 0.989742134031558 0.990792179210293 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0877742397010431 0.0404708653677488 0.991830569981744 0.926669626675897 NA 0.064122552534396 NA FALSE NA 0.953 1.419 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA CAC A,G 8.236e-06 5:223524 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 1.646627 0.86752 0.68292 0.732398 0.983696736747583 0 9.3872916167157e-06 FALSE 4.06564e-06 ENSE00000718333_012 ENSE00000718333 012 5 223550 223719 + 47 87 36 A T 223646 42 97 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGTTGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223530 223531 223531 exon -38 0.574712643678161 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGTTGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 304 275 0.999048515770078 0.994857224782286 0.996952870276182 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0949805310820941 0.0455859561184774 0.991830569981744 0.926669626675897 NA 0.0702832436002858 NA FALSE NA 0.989 2.728 rs34635677 upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 rs34635677 1 T:0.0186 T:0 T:0.0159 NA T:0 T:0.0318 T:0.0511 T:0.0079 T:0.0456 GAT A,T 0.035 5:223531 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 0.820413 0.21792 0.59822 0.732398 0.864440569821863 0 9.3872916167157e-06 FALSE 0.0352978 ENSE00000718333_013 ENSE00000718333 013 5 223550 223719 + 47 87 36 G A 223658 43 109 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAAGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223542 223543 223543 exon -26 0.71264367816092 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAAGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 1511 40 0.998077739537072 0.996025419298962 0.997051579418017 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0940097548490876 0.0467541506351534 0.991830569981744 0.926669626675897 NA 0.0703819527421205 NA FALSE NA 0.946 1.069 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA AGG G,A 8.236e-06 5:223543 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 0.490374 0.53795 0.38837 0.732398 0.938226395736092 0 9.3872916167157e-06 FALSE 8.13127e-06 ENSE00000718333_014 ENSE00000718333 014 5 223550 223719 + 47 87 36 G A 223666 44 117 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTACTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223550 223551 223551 exon -18 0.804597701149425 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTACTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 925 1213 0.966942840084859 0.959811492862561 0.96337716647371 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0628748553968748 0.0105402241987516 0.991830569981744 0.926669626675897 NA 0.0367075397978132 NA FALSE NA 1 2.796 rs140736646 upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 rs140736646 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0001 TGC G,A 0.0005518 5:223551 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 3.447724 0.93799 0.78009 0.732398 0.995566934795309 0 9.3872916167157e-06 FALSE 0.000443154 ENSE00000718333_015 ENSE00000718333 015 5 223550 223719 + 47 87 36 A G 223669 45 120 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTGAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223553 223554 223554 exon -15 0.839080459770115 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTGAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 1011 1496 0.990773345770808 0.999949105874312 0.99536122582256 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0867053610828237 0.0506778372105028 0.991830569981744 0.926669626675897 NA 0.0686915991466632 NA FALSE NA 1 6.148 rs144599870 upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 rs144599870 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 G:0.0041 G:0 TAA A,G 0.0003871 5:223554 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 2.560026 0.93058 0.9157 0.732398 0.99018371696129 0 9.3872916167157e-06 FALSE 0.000292726 ENSE00000718333_016 ENSE00000718333 016 5 223550 223719 + 47 87 36 T C 223674 46 125 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTCTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223558 223559 223559 exon -10 0.896551724137931 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTCTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 638 1251 0.994912661545557 0.998495293672075 0.996703977608816 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0908446768575732 0.0492240250082657 0.991830569981744 0.926669626675897 NA 0.0700343509329195 NA FALSE NA 1 0.667 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA TTT T,C 8.236e-06 5:223559 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 0.006708 0.8829 0.62267 0.732398 0.964763172095287 0 9.3872916167157e-06 FALSE NA ENSE00000718333_017 ENSE00000718333 017 5 223550 223719 + 47 87 36 A G 223679 47 130 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGGTTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223563 223564 223564 exon -5 0.954022988505747 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGGTTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 1985 546 0.994508727059666 0.999710234048286 0.997109480553976 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0904407423716819 0.0504389653844771 0.991830569981744 0.926669626675897 NA 0.0704398538780795 NA FALSE NA 1 6.148 rs80207011 upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 rs80207011 1 G:0.0042 G:0.0159 G:0 NA G:0 G:0 G:0 G:0.0084 G:0 GAT A,G 0.0008319 5:223564 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 1.943712 0.92738 0.91411 0.732398 0.874314181206724 0 9.3872916167157e-06 FALSE 0.000650502 ENSE00000718333_018 ENSE00000718333 018 5 223550 223719 + 47 87 36 C A 223682 48 133 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTACGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223566 223567 223567 exon -2 0.988505747126437 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTACGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 54 168 1 1 1 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0959320153120159 0.0507287313361909 0.991830569981744 0.926669626675897 NA 0.0733303733241034 NA FALSE NA 0.994 3.607 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 rs369321221 1 NA A:0.0002 A:0 TCC C,A 8.236e-06 5:223567 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 0.010547 0.74129 0.81043 0.732398 0.790012584236063 0 9.3872916167157e-06 FALSE NA ENSE00000718333_019 ENSE00000718333 019 5 223550 223719 + 47 87 36 C T 223683 49 134 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCTGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223567 223568 223568 exon -1 1 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCTGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 1801 488 0.997753954697368 0.997528237297212 0.99764109599729 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0936859700093843 0.0482569686334026 0.991830569981744 0.926669626675897 NA 0.0709714693213934 NA FALSE NA 0.031 -1.308 rs140264486 upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 rs140264486 1 NA T:0.0002 T:0 CCG C,T 8.236e-06 5:223568 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 missense_variant 0.7993 0.1804 0.0345 0.732398 0.754127251431914 0 9.3872916167157e-06 FALSE 1.2197e-05 ENSE00000718333_020 ENSE00000718333 020 5 223550 223719 + 47 87 36 G T 223688 50 139 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAATTTCATGCTTTTTGTTCCATTATAAATGATTT 223434 223604 223572 223573 223573 downstr_intron 5 1.14285714285714 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAATTTCATGCTTTTTGTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 1187 2172 0.00356215396003639 0.000698498490476206 0.0021303262252563 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA -0.900505830727948 -0.948572770173333 0.991830569981744 0.926669626675897 NA -0.92453930045064 NA TRUE NA 1 4.86 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA AGT G,T 8.236e-06 5:223573 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 splice_region_variant 0.93944 0.91741 0.87385 0.235255 0.778517451495999 0.973108 9.3872916167157e-06 FALSE 4.0657e-06 ENSE00000718333_022 ENSE00000718333 022 5 223550 223719 + 47 87 36 G C 223701 52 152 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTCTTCCATTATAAATGATTT 223434 223604 223585 223586 223586 downstr_intron 18 1.51428571428571 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTCTTCCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 272 2845 1 0.998487590030929 0.999243795015464 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0959320153120159 0.0492163213671198 0.991830569981744 0.926669626675897 NA 0.0725741683395679 NA FALSE NA 0.001 0.062 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 1 NA TGT G,C 1.647e-05 5:223586 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 intron_variant -0.193091 0.17699 0.04688 0.235255 0.335866798647582 0.17868 9.3872916167157e-06 FALSE 8.132e-06 ENSE00000718333_023 ENSE00000718333 023 5 223550 223719 + 47 87 36 C T 223704 53 155 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTTCATTATAAATGATTT 223434 223604 223588 223589 223589 downstr_intron 21 1.6 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTTCATTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 124 451 1 0.994401788513012 0.997200894256506 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0959320153120159 0.0451305198492031 0.991830569981744 0.926669626675897 NA 0.0705312675806095 NA FALSE NA 0 -0.184 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 rs373089162 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 5:223589 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 intron_variant 0.17089 0.1736 0.01949 0.235255 0.402707250182416 0.177098 9.3872916167157e-06 FALSE 4.06623e-06 ENSE00000718333_024 ENSE00000718333 024 5 223550 223719 + 47 87 36 T C 223707 54 158 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCACTATAAATGATTT 223434 223604 223591 223592 223592 downstr_intron 24 1.68571428571429 TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCACTATAAATGATTT TCCTTCAGGACACTAACCCTCTGGATCTGTGTCTTCTGTGTCTCCAGTGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGTTCCATTATAAATGATTT mutant NA NA NA NA NA 310 106 0.997450051362205 1 0.998725025681102 0.998345290139059 0.985315849824429 0.904067984687984 0.949271268663809 NA NA 0.0933820666742209 0.0507287313361909 0.991830569981744 0.926669626675897 NA 0.0720553990052059 NA FALSE NA 0 0.017 . upstream_gene_variant MODIFIER SDHA HGNC 10680 ENST00000514027 rs376313791 1 NA C:0 C:0.0003 ATT T,C 8.236e-05 5:223592 SDHA HGNC Symbol protein_coding 38459 ENSG00000073578 ENSE00003590655 intron_variant 0.005412 0.23521 0.06967 0.235255 0.56596616799715 0.177098 9.3872916167157e-06 FALSE 0.000113863 ENSE00000718733_000 ENSE00000718733 000 17 37457212 37457381 - 42 75 53 NA NA NA NA NA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA 39300958 39301128 NA NA NA NA NA NA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA natural NA NA NA NA NA 2978 1318 0.89818657335233 0.99180946817562 0.944998020763975 NA NA 0.89818657335233 0.99180946817562 NA NA 0 0 NA 0.944998020763975 NA 0 NA FALSE NA NA NA NA NA NA FBXL20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXL20 NA NA NA ENSG00000108306 ENSE00000718733 NA NA NA NA NA NA NA 0.998874815002399 TRUE NA ENSE00000718733_001 ENSE00000718733 001 17 37457212 37457381 - 42 75 53 T C 37457228 1689 154 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCGGTTTTCATGTTAGTAA 39300958 39301128 39300974 39300975 39300975 downstr_intron 26 1.63414634146341 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCGGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA mutant NA NA NA NA NA 84 254 0.979456876130354 0.960792888455039 0.970124882292697 NA NA 0.89818657335233 0.99180946817562 NA NA 0.0812703027780241 -0.0310165797205807 NA 0.944998020763975 NA 0.0251268615287217 NA FALSE NA 0.998 0.478 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 4/13 1 NA CTG T,C 8.236e-06 17:39300975 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000718733 intron_variant 1.0686 0.96224 0.76787 0.106106 0.551745833405602 0.204585 0.998874815002399 TRUE 8.168e-06 ENSE00000718733_003 ENSE00000718733 003 17 37457212 37457381 - 42 75 53 C A 37457238 1691 144 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTTTGTGGCCCCAGTTTTCATGTTAGTAA 39300958 39301128 39300984 39300985 39300985 downstr_intron 16 1.39024390243902 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTTTGTGGCCCCAGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA mutant NA NA NA NA NA 1060 308 0.805319431119217 0.999504219810098 0.902411825464658 NA NA 0.89818657335233 0.99180946817562 NA NA -0.092867142233113 0.00769475163447808 NA 0.944998020763975 NA -0.0425861952993175 NA FALSE NA 1 1.736 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 4/13 rs201170329 1 NA ACA C,A 2.471e-05 17:39300985 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000718733 intron_variant 0.885258 0.89679 0.89477 0.106106 0.555743363756812 0.398244 0.998874815002399 TRUE 1.22036e-05 ENSE00000718733_004 ENSE00000718733 004 17 37457212 37457381 - 42 75 53 T G 37457245 1692 137 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTCTGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA 39300958 39301128 39300991 39300992 39300992 downstr_intron 9 1.21951219512195 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTCTGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA mutant NA NA NA NA NA 412 814 1 0.998346676816579 0.99917333840829 NA NA 0.89818657335233 0.99180946817562 NA NA 0.10181342664767 0.00653720864095964 NA 0.944998020763975 NA 0.0541753176443147 NA FALSE NA 1 1.393 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 4/13 1 NA ATA T,G 8.237e-06 17:39300992 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000718733 intron_variant 2.109687 0.97192 0.92341 0.106106 0.727528916881572 0.462623 0.998874815002399 TRUE NA ENSE00000718733_007 ENSE00000718733 007 17 37457212 37457381 - 42 75 53 G A 37457269 1695 113 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTTCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA 39300958 39301128 39301015 39301016 39301016 exon -16 0.8 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTTCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA mutant 33 25 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.89818657335233 0.99180946817562 NA NA NA NA NA 0.944998020763975 NA NA NA NA NA 1 7.167 . synonymous_variant LOW FBXL20 HGNC 24679 ENST00000394294 4/14 1 NA GGA G,A 8.236e-06 17:39301016 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000718733 synonymous_variant 1.01283 0.98754 0.96228 0.638212 0.764457766576606 0 0.998874815002399 TRUE 4.06345e-06 ENSE00000718733_009 ENSE00000718733 009 17 37457212 37457381 - 42 75 53 A G 37457284 1697 98 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATCGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA 39300958 39301128 39301030 39301031 39301031 exon -31 0.6 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATCGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA mutant NA NA NA NA NA 177 119 0.965228634064357 1 0.982614317032178 NA NA 0.89818657335233 0.99180946817562 NA NA 0.0670420607120263 0.00819053182438023 NA 0.944998020763975 NA 0.0376162962682033 NA FALSE NA 1 1.681 . synonymous_variant LOW FBXL20 HGNC 24679 ENST00000394294 4/14 1 NA CAA A,G 1.647e-05 17:39301031 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000718733 synonymous_variant 0.878195 0.97271 0.83088 0.638212 0.763081902462103 0 0.998874815002399 TRUE 2.43829e-05 ENSE00000718733_011 ENSE00000718733 011 17 37457212 37457381 - 42 75 53 C G 37457319 1699 63 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATCTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA 39300958 39301128 39301065 39301066 39301066 exon 10 0.133333333333333 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATCTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA mutant NA NA NA NA NA 100 159 0.950560906712682 1 0.975280453356341 NA NA 0.89818657335233 0.99180946817562 NA NA 0.0523743333603522 0.00819053182438023 NA 0.944998020763975 NA 0.0302824325923662 NA FALSE NA 1 7.445 . missense_variant MODERATE FBXL20 HGNC 24679 ENST00000394294 4/14 1 tolerated(0.13) probably_damaging(0.927) NA ACA C,G 8.237e-06 17:39301066 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000718733 missense_variant 3.275462 0.99511 0.98755 0.6512 0.997037206977079 0 0.998874815002399 TRUE 4.07024e-06 ENSE00000718733_014 ENSE00000718733 014 17 37457212 37457381 - 42 75 53 A G 37457343 1702 39 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTCTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA 39300958 39301128 39301089 39301090 39301090 upstr_intron -15 -0.264150943396226 TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTCTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA mutant NA NA NA NA NA 268 68 0.997704863715518 0.989246225272994 0.993475544494256 NA NA 0.89818657335233 0.99180946817562 NA NA 0.0995182903631877 -0.00256324290262588 NA 0.944998020763975 NA 0.0484775237302809 NA FALSE NA 0.017 1.263 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 3/13 1 NA AAA A,G 8.237e-06 17:39301090 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000718733 intron_variant 2.649201 0.98951 0.91588 0.088506 0.876581447300509 0.976602 0.998874815002399 TRUE NA ENSE00000718733_015 ENSE00000718733 015 17 37457212 37457381 - 42 75 53 T C 37457354 1703 28 TTTTCCCCTTAATTTTAGCTTCTGCTCGTTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA 39300958 39301128 39301100 39301101 39301101 upstr_intron -26 -0.471698113207547 TTTTCCCCTTAATTTTAGCTTCTGCTCGTTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA TTTTCCCCTTAATTTTAGCTTCTGCTCATTCTGTCTCTTTTTCTTTAAAATAGGCCTGGAATGTTCTGGCTCTGGATGGCAGTAACTGGCAGCGAATTGACCTATTTGATTTCCAGAGGGATATTGAGGTATAATTATGTGGTGTGTGGCCCCAGTTTTCATGTTAGTAA mutant NA NA NA NA NA 57 164 0.152515728379886 0.00620041873391887 0.0793580735569024 NA NA 0.89818657335233 0.99180946817562 NA NA -0.745670844972444 -0.985609049441701 NA 0.944998020763975 NA -0.865639947207073 NA TRUE NA 0.641 0.469 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 3/13 1 NA ATG T,C 1.647e-05 17:39301101 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000718733 intron_variant 0.565719 0.32623 0.24569 0.088506 0.763787826410675 0.0954646 0.998874815002399 TRUE 1.24069e-05 ENSE00000719768_000 ENSE00000719768 000 10 101565082 101565251 + 57 66 47 NA NA NA NA NA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 NA NA NA NA NA NA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA natural 16 15 0.93284816250039 0.969572566137716 0.951210364319053 891 1792 0.986770307914988 0.879730999061869 0.933250653488428 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 0 0 0 0 0.951210364319053 0.933250653488428 0 0 0 FALSE FALSE NA NA NA NA NA ABCC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC2 NA NA NA ENSG00000023839 ENSE00000719768 NA NA NA NA NA NA NA 3.36341398926312e-29 FALSE NA ENSE00000719768_001 ENSE00000719768 001 10 101565082 101565251 + 57 66 47 A T 101565101 2311 20 CCTGAGCCCTCTCTCATGGTAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805343 99805344 99805344 upstr_intron -38 -0.649122807017544 CCTGAGCCCTCTCTCATGGTAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant NA NA NA NA NA 46 177 0.95 0.989942374578475 0.969971187289237 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 NA NA -0.0367703079149879 0.110211375516606 0.951210364319053 0.933250653488428 NA 0.0367205338008088 NA FALSE NA 0 0.337 . intron_variant MODIFIER ABCC2 HGNC 53 ENST00000370449 10/31 1 NA GAA A 8.237e-06 10:99805344 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 intron_variant 0.093848 0.24011 0.19893 0.080754 0.736729557174735 0.0901075 3.36341398926312e-29 FALSE 4.07694e-06 ENSE00000719768_002 ENSE00000719768 002 10 101565082 101565251 + 57 66 47 C A 101565104 2312 23 CCTGAGCCCTCTCTCATGGAAGAGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805346 99805347 99805347 upstr_intron -35 -0.596491228070175 CCTGAGCCCTCTCTCATGGAAGAGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant NA NA NA NA NA 96 80 0.941290301120515 0.951629503860106 0.94645990249031 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 NA NA -0.0454800067944727 0.0718985047982367 0.951210364319053 0.933250653488428 NA 0.013209249001882 NA FALSE NA 0 -0.95 . intron_variant MODIFIER ABCC2 HGNC 53 ENST00000370449 10/31 1 NA GCG C 1.647e-05 10:99805347 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 intron_variant 0.010572 0.18579 0.0637 0.080754 0.709417533802207 0.0901075 3.36341398926312e-29 FALSE 1.22221e-05 ENSE00000719768_003 ENSE00000719768 003 10 101565082 101565251 + 57 66 47 G C 101565112 2313 31 CCTGAGCCCTCTCTCATGGAAGCGTATATTCTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805354 99805355 99805355 upstr_intron -27 -0.456140350877193 CCTGAGCCCTCTCTCATGGAAGCGTATATTCTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant NA NA NA NA NA 96 182 0.993386980534127 0.998522710584439 0.995954845559283 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 NA NA 0.00661667261913923 0.11879171152257 0.951210364319053 0.933250653488428 NA 0.0627041920708544 NA FALSE NA 0.936 0.973 . intron_variant MODIFIER ABCC2 HGNC 53 ENST00000370449 10/31 rs368596686 1 NA C:0.0002 C:0.0001 TGT G 8.237e-06 10:99805355 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 intron_variant 0.052378 0.30211 0.52244 0.080754 0.540889540991336 0.0995994 3.36341398926312e-29 FALSE 1.62767e-05 ENSE00000719768_005 ENSE00000719768 005 10 101565082 101565251 + 57 66 47 T C 101565117 2315 36 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTCCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805359 99805360 99805360 upstr_intron -22 -0.368421052631579 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTCCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant 19 32 0.85 0.85 0.85 424 462 0.891997409084381 0.939978334398804 0.915987871741592 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 -0.0828481625003898 -0.119572566137716 -0.0947728988306072 0.0602473353369349 0.951210364319053 0.933250653488428 -0.101210364319053 -0.0172627817468362 0.0839475825722169 FALSE FALSE 0.076 0.549 . intron_variant MODIFIER ABCC2 HGNC 53 ENST00000370449 10/31 1 NA TTC T 8.237e-06 10:99805360 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 intron_variant 0.487885 0.25723 0.21637 0.080754 0.710321980756506 0.0901075 3.36341398926312e-29 FALSE 4.06762e-06 ENSE00000719768_007 ENSE00000719768 007 10 101565082 101565251 + 57 66 47 T C 101565122 2317 41 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTCGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805364 99805365 99805365 upstr_intron -17 -0.280701754385965 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTCGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant 15 18 0.85 0.968144802986801 0.909072401493401 NA NA NA NA NA 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 -0.0828481625003898 -0.00142776315091486 NA NA 0.951210364319053 0.933250653488428 -0.0421379628256524 NA NA NA FALSE 0.968 0.886 . intron_variant MODIFIER ABCC2 HGNC 53 ENST00000370449 10/31 1 NA TTG T 8.237e-06 10:99805365 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 intron_variant 0.951381 0.32382 0.24127 0.080754 0.785045549443594 0.203503 3.36341398926312e-29 FALSE NA ENSE00000719768_011 ENSE00000719768 011 10 101565082 101565251 + 57 66 47 G C 101565138 2321 57 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCACGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805380 99805381 99805381 upstr_intron -1 0 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCACGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant 37 69 0 0 0 NA NA NA NA NA 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 -0.93284816250039 -0.969572566137716 NA NA 0.951210364319053 0.933250653488428 -0.951210364319053 NA NA NA TRUE 1 9.28 . splice_acceptor_variant HIGH ABCC2 HGNC 53 ENST00000370449 10/31 1 NA HC AGG G 8.236e-06 10:99805381 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 splice_acceptor_variant 4.13745 0.96414 0.97837 0.074636 0.990951426501073 0.858089 3.36341398926312e-29 FALSE 1.22031e-05 ENSE00000719768_012 ENSE00000719768 012 10 101565082 101565251 + 57 66 47 A C 101565145 2322 64 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAACATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805387 99805388 99805388 exon 7 0.106060606060606 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAACATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant 12 16 0 0 0 NA NA NA NA NA 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 -0.93284816250039 -0.969572566137716 NA NA 0.951210364319053 0.933250653488428 -0.951210364319053 NA NA NA TRUE 1 4.547 . missense_variant MODERATE ABCC2 HGNC 53 ENST00000370449 11/32 1 tolerated(0.21) probably_damaging(1) NA AAA A 8.236e-06 10:99805388 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 missense_variant 3.756435 0.95351 0.91694 0.487112 0.974454783386947 0 3.36341398926312e-29 FALSE 4.06603e-06 ENSE00000719768_015 ENSE00000719768 015 10 101565082 101565251 + 57 66 47 A C 101565164 2325 83 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACACACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805406 99805407 99805407 exon 26 0.393939393939394 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACACACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant NA NA NA NA NA 1506 39 0.999334062829497 1 0.999667031414749 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 NA NA 0.0125637549145097 0.120269000938131 0.951210364319053 0.933250653488428 NA 0.0664163779263203 NA FALSE NA 0.428 2.062 . missense_variant MODERATE ABCC2 HGNC 53 ENST00000370449 11/32 1 tolerated(0.15) possibly_damaging(0.672) NA AAA A 8.236e-06 10:99805407 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 missense_variant 3.472245 0.80287 0.80655 0.553676 0.9942610378851 0 3.36341398926312e-29 FALSE 4.06448e-06 ENSE00000719768_017 ENSE00000719768 017 10 101565082 101565251 + 57 66 47 C T 101565166 2327 85 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAATGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805408 99805409 99805409 exon 28 0.424242424242424 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAATGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant 16 50 0.85 0.85 0.85 NA NA NA NA NA 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 -0.08284816250039 -0.119572566137716 NA NA 0.951210364319053 0.933250653488428 -0.101210364319053 NA NA NA FALSE 0.947 2.6 . missense_variant MODERATE ABCC2 HGNC 53 ENST00000370449 11/32 1 deleterious(0) probably_damaging(1) NA ACG C 2.471e-05 10:99805409 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 missense_variant 8.068639 0.9633 0.92816 0.553676 0.999361576427153 0 3.36341398926312e-29 FALSE 2.0326e-05 ENSE00000719768_020 ENSE00000719768 020 10 101565082 101565251 + 57 66 47 T C 101565179 2330 98 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCACGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805421 99805422 99805422 exon -26 0.621212121212121 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCACGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant NA NA NA NA NA 1000 605 0.998883528593089 1 0.999441764296545 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 NA NA 0.0121132206781016 0.120269000938131 0.951210364319053 0.933250653488428 NA 0.0661911108081163 NA FALSE NA 1 7.539 . missense_variant MODERATE ABCC2 HGNC 53 ENST00000370449 11/32 1 deleterious(0.01) probably_damaging(0.969) NA ATG T 8.236e-06 10:99805422 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 missense_variant 5.532278 0.97528 0.97289 0.553676 0.992593490005847 0 3.36341398926312e-29 FALSE 4.06359e-06 ENSE00000719768_022 ENSE00000719768 022 10 101565082 101565251 + 57 66 47 T C 101565192 2332 111 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTCAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805434 99805435 99805435 exon -13 0.818181818181818 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTCAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant NA NA NA NA NA 20 32 1 0.815550444874462 0.907775222437231 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 NA NA 0.0132296920850122 -0.0641805541874072 0.951210364319053 0.933250653488428 NA -0.0254754310511975 NA FALSE NA 0.135 -0.163 . synonymous_variant LOW ABCC2 HGNC 53 ENST00000370449 11/32 1 NA TTA T 1.647e-05 10:99805435 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 synonymous_variant 0.369222 0.91154 0.28833 0.553676 0.663238265749908 0 3.36341398926312e-29 FALSE 8.12651e-06 ENSE00000719768_024 ENSE00000719768 024 10 101565082 101565251 + 57 66 47 T C 101565220 2334 139 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGCAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA 99805324 99805494 99805462 99805463 99805463 downstr_intron 16 1.34782608695652 CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGCAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA CCTGAGCCCTCTCTCATGGAAGCGTATATTGTTTTTCTTTTGCTTTTTTCCTGGCAGGTCAAAAATATGAAGAATAAAGACAAACGTTTAAAGATCATGAATGAGATTCTTAGTGGAATCAAGGTGAGAATCTGAGCGTAGGTGGCTCTCTGTGGGTAAGGACAGAAGCA mutant NA NA NA NA NA 230 19 1 0.825901897324255 0.912950948662128 0.93284816250039 0.969572566137716 0.986770307914988 0.879730999061869 NA NA 0.0132296920850122 -0.0538291017376136 0.951210364319053 0.933250653488428 NA -0.0202997048263007 NA FALSE NA 0 -0.558 . intron_variant MODIFIER ABCC2 HGNC 53 ENST00000370449 11/31 1 NA GTA T 8.236e-06 10:99805463 ABCC2 HGNC Symbol protein_coding 69460 ENSG00000023839 ENSE00000719768 intron_variant 0.223905 0.25857 0.08486 0.053691 0.5044124223391 0.0463007 3.36341398926312e-29 FALSE 4.06365e-06 ENSE00000719992_000 ENSE00000719992 000 7 123514770 123514939 + 45 90 35 NA NA NA NA NA GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 NA NA NA NA NA NA GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT natural 54 65 0.983509592778501 0.976924754397555 0.980217173588028 6114 6441 0.817892671199805 0.898972388726153 0.858432529962979 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 0 0 0 0 0.980217173588028 0.858432529962979 0 0 0 FALSE FALSE NA NA NA NA NA HYAL4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HYAL4 NA NA NA ENSG00000106302 ENSE00000719992 NA NA NA NA NA NA NA 2.05182329925812e-15 FALSE NA ENSE00000719992_002 ENSE00000719992 002 7 123514770 123514939 + 45 90 35 A T 123514808 2389 39 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCTATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874753 123874754 123874754 upstr_intron -7 -0.133333333333333 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCTATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 2704 411 0.998223110444786 1 0.999111555222393 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.180330439244981 0.101027611273847 0.980217173588028 0.858432529962979 NA 0.140679025259414 NA FALSE NA 0 0.113 . splice_region_variant&intron_variant&NMD_transcript_variant LOW HYAL4 HGNC 5323 ENST00000483878 2/4 1 NA CAA A,T 8.236e-06 7:123874754 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 splice_region_variant -0.106966 0.33071 0.25685 0.074636 0.536489820409189 0.0949405 2.05182329925812e-15 FALSE 4.0715e-06 ENSE00000719992_003 ENSE00000719992 003 7 123514770 123514939 + 45 90 35 A G 123514809 2390 40 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAGTCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874754 123874755 123874755 upstr_intron -6 -0.111111111111111 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAGTCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 6195 117 0.996178591657134 0.8 0.898089295828567 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.178285920457328 -0.0989723887261531 0.980217173588028 0.858432529962979 NA 0.0396567658655876 NA FALSE NA 0 0.143 rs138203353 splice_region_variant&intron_variant&NMD_transcript_variant LOW HYAL4 HGNC 5323 ENST00000483878 2/4 rs138203353 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAT A,G 8.236e-06 7:123874755 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 splice_region_variant 1.285473 0.61956 0.34515 0.074636 0.666252035166089 0.121452 2.05182329925812e-15 FALSE 1.22156e-05 ENSE00000719992_004 ENSE00000719992 004 7 123514770 123514939 + 45 90 35 A G 123514819 2391 50 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGGTCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874764 123874765 123874765 exon 5 0.0555555555555556 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGGTCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 1624 1165 0.883226017928325 0.980053009926657 0.931639513927491 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.0653333467285201 0.0810806212005043 0.980217173588028 0.858432529962979 NA 0.0732069839645122 NA FALSE NA 1 6.122 . missense_variant&NMD_transcript_variant MODERATE HYAL4 HGNC 5323 ENST00000483878 3/5 1 deleterious(0) possibly_damaging(0.736) NA GAT A,G 8.236e-06 7:123874765 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 missense_variant 6.976652 0.99698 0.99522 0.553676 0.99860647015635 0 2.05182329925812e-15 FALSE 8.13478e-06 ENSE00000719992_005 ENSE00000719992 005 7 123514770 123514939 + 45 90 35 T C 123514822 2392 53 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCCAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874767 123874768 123874768 exon 8 0.0888888888888889 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCCAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 593 1783 0.997545422814799 0.999206331733265 0.998375877274032 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.179652751614994 0.100233943007112 0.980217173588028 0.858432529962979 NA 0.139943347311053 NA FALSE NA 0.98 7.929 . missense_variant&NMD_transcript_variant MODERATE HYAL4 HGNC 5323 ENST00000483878 3/5 1 deleterious(0.03) probably_damaging(0.986) NA CTA T,C 8.236e-06 7:123874768 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 missense_variant 7.001596 0.99676 0.99787 0.553676 0.999171580357759 0 2.05182329925812e-15 FALSE 4.06762e-06 ENSE00000719992_006 ENSE00000719992 006 7 123514770 123514939 + 45 90 35 A G 123514823 2393 54 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTGGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874768 123874769 123874769 exon 9 0.1 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTGGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 2490 532 0.860871726100152 0.983598674778038 0.922235200439095 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.0429790549003467 0.0846262860518849 0.980217173588028 0.858432529962979 NA 0.0638026704761158 NA FALSE NA 0.012 -0.111 . synonymous_variant&NMD_transcript_variant LOW HYAL4 HGNC 5323 ENST00000483878 3/5 1 NA TAG A,G 8.236e-06 7:123874769 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 synonymous_variant 0.869726 0.96116 0.1038 0.553676 0.674538739257204 0 2.05182329925812e-15 FALSE 4.06663e-06 ENSE00000719992_007 ENSE00000719992 007 7 123514770 123514939 + 45 90 35 C T 123514832 2394 63 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACTATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874777 123874778 123874778 exon 18 0.2 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACTATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 210 1115 0.00182629725556489 0.0412859632315022 0.0215561302435335 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA -0.81606637394424 -0.857686425494651 0.980217173588028 0.858432529962979 NA -0.836876399719446 NA TRUE NA 0.998 0.544 . synonymous_variant&NMD_transcript_variant LOW HYAL4 HGNC 5323 ENST00000483878 3/5 COSM3394506 1 NA CCA C,T 8.236e-06 7:123874778 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 synonymous_variant 1.96591 0.98497 0.80831 0.553676 0.752336017169878 0 2.05182329925812e-15 FALSE 4.06567e-06 ENSE00000719992_008 ENSE00000719992 008 7 123514770 123514939 + 45 90 35 T C 123514852 2395 83 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTCGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874797 123874798 123874798 exon 38 0.422222222222222 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTCGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 728 4651 0.997195533856711 0.969076513341261 0.983136023598986 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.179302862656906 0.070104124615108 0.980217173588028 0.858432529962979 NA 0.124703493636007 NA FALSE NA 1 6.182 . missense_variant&NMD_transcript_variant MODERATE HYAL4 HGNC 5323 ENST00000483878 3/5 1 deleterious(0) probably_damaging(0.995) NA TTG T,C 4.118e-05 7:123874798 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 missense_variant 6.569873 0.99676 0.99653 0.554377 0.99857182674207 0 2.05182329925812e-15 FALSE 3.25129e-05 ENSE00000719992_009 ENSE00000719992 009 7 123514770 123514939 + 45 90 35 A G 123514866 2396 97 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCGTTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874811 123874812 123874812 exon -39 0.577777777777778 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCGTTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 505 319 0.995959682365306 0.996513581228614 0.99623663179696 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.1780670111655 0.0975411925024613 0.980217173588028 0.858432529962979 NA 0.137804101833981 NA FALSE NA 0 0.001 . missense_variant&NMD_transcript_variant MODERATE HYAL4 HGNC 5323 ENST00000483878 3/5 1 tolerated(0.35) benign(0.022) NA CAT A,G 1.647e-05 7:123874812 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 missense_variant 2.184803 0.81837 0.21901 0.554377 0.705791987378338 0 2.05182329925812e-15 FALSE 1.21916e-05 ENSE00000719992_010 ENSE00000719992 010 7 123514770 123514939 + 45 90 35 A G 123514872 2397 103 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTGTTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874817 123874818 123874818 exon -33 0.644444444444444 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTGTTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 1366 739 0.993560202409736 0.86723303789033 0.930396620150033 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.175667531209931 -0.0317393508358229 0.980217173588028 0.858432529962979 NA 0.0719640901870539 NA FALSE NA 0.044 0.991 . missense_variant&NMD_transcript_variant MODERATE HYAL4 HGNC 5323 ENST00000483878 3/5 1 tolerated(0.09) benign(0.034) NA TAT A,G 8.236e-06 7:123874818 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 missense_variant 1.20217 0.58256 0.47108 0.554377 0.88957661616856 0 2.05182329925812e-15 FALSE NA ENSE00000719992_011 ENSE00000719992 011 7 123514770 123514939 + 45 90 35 A C 123514884 2398 115 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACCTGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874829 123874830 123874830 exon -21 0.777777777777778 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACCTGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 1227 1167 0.901822209435416 0.999443682867761 0.950632946151588 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.0839295382356107 0.100471294141607 0.980217173588028 0.858432529962979 NA 0.092200416188609 NA FALSE NA 0.954 0.836 . missense_variant&NMD_transcript_variant MODERATE HYAL4 HGNC 5323 ENST00000483878 3/5 1 tolerated(0.53) benign(0.002) NA CAT A,C 1.647e-05 7:123874830 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 missense_variant 1.094639 0.97706 0.87288 0.554377 0.661735917445433 0 2.05182329925812e-15 FALSE 1.21917e-05 ENSE00000719992_012 ENSE00000719992 012 7 123514770 123514939 + 45 90 35 C G 123514894 2399 125 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAAGTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874839 123874840 123874840 exon -11 0.888888888888889 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAAGTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 390 1692 0.86420687180418 0.843214768345716 0.853710820074948 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.0463142006043744 -0.0557576203804375 0.980217173588028 0.858432529962979 NA -0.00472170988803156 NA FALSE NA 1 3.841 . missense_variant&NMD_transcript_variant MODERATE HYAL4 HGNC 5323 ENST00000483878 3/5 1 deleterious(0.05) probably_damaging(0.992) NA ACT C,G 3.295e-05 7:123874840 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 missense_variant 4.413663 0.99527 0.98788 0.554377 0.991770903210222 0 2.05182329925812e-15 FALSE 2.03229e-05 ENSE00000719992_013 ENSE00000719992 013 7 123514770 123514939 + 45 90 35 G T 123514896 2400 127 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTTCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874841 123874842 123874842 exon -9 0.911111111111111 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTTCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 773 152 0.88258985763729 0.988378846422622 0.935484352029956 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.0646971864374846 0.0894064576964685 0.980217173588028 0.858432529962979 NA 0.0770518220669765 NA FALSE NA 0.93 2.042 rs6949082 missense_variant&NMD_transcript_variant MODERATE HYAL4 HGNC 5323 ENST00000483878 3/5 rs6949082 1 tolerated(1) benign(0) T:0.1136 T:0.1293 T:0.0994 NA T:0.001 T:0.1779 T:0.1524 T:0.1498 T:0.1702 TGC T,T 0.15 7:123874842 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 missense_variant 0.922354 0.30967 0.02987 0.554377 0.411771843012584 0 2.05182329925812e-15 FALSE 0.14735 ENSE00000719992_015 ENSE00000719992 015 7 123514770 123514939 + 45 90 35 C T 123514911 2402 142 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTTAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874856 123874857 123874857 downstr_intron 7 1.20588235294118 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTTAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 1316 452 0.87576089649036 0.983696552627142 0.929728724558751 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.0578682252905551 0.0847241639009887 0.980217173588028 0.858432529962979 NA 0.0712961945957719 NA FALSE NA 0.756 0.578 . splice_region_variant&intron_variant&NMD_transcript_variant LOW HYAL4 HGNC 5323 ENST00000483878 3/4 1 NA TCA C,T 1.647e-05 7:123874857 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 splice_region_variant 1.565652 0.64316 0.08912 0.053691 0.739319095681232 0.227887 2.05182329925812e-15 FALSE 8.13901e-06 ENSE00000719992_016 ENSE00000719992 016 7 123514770 123514939 + 45 90 35 C T 123514917 2403 148 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATTTTGAAGGTATATTTAATGTTTT 123874715 123874885 123874862 123874863 123874863 downstr_intron 13 1.38235294117647 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATTTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 961 1171 0.875310613566175 0.990488592431024 0.9328996029986 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.0574179423663699 0.0915162037048712 0.980217173588028 0.858432529962979 NA 0.0744670730356206 NA FALSE NA 0 -0.198 . intron_variant&NMD_transcript_variant MODIFIER HYAL4 HGNC 5323 ENST00000483878 3/4 1 NA TCT C,T 8.237e-06 7:123874863 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 intron_variant 1.910553 0.26631 0.09457 0.053691 0.716966645050067 0.128316 2.05182329925812e-15 FALSE 1.22296e-05 ENSE00000719992_017 ENSE00000719992 017 7 123514770 123514939 + 45 90 35 A G 123514926 2404 157 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTGTATTTAATGTTTT 123874715 123874885 123874871 123874872 123874872 downstr_intron 22 1.64705882352941 GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTGTATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT mutant NA NA NA NA NA 973 477 0.827653862664635 0.824287780628022 0.825970821646328 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 NA NA 0.00976119146482957 -0.0746846080981314 0.980217173588028 0.858432529962979 NA -0.0324617083166509 NA FALSE NA 0 -0.869 . intron_variant&NMD_transcript_variant MODIFIER HYAL4 HGNC 5323 ENST00000483878 3/4 1 NA TAT A,G 8.237e-06 7:123874872 HYAL4 HGNC Symbol protein_coding 48495 ENSG00000106302 ENSE00000719992 intron_variant 0.825535 0.15421 0.03163 0.053691 0.788271511976326 0.1273 2.05182329925812e-15 FALSE 4.09776e-06 ENSE00000719992_BRK ENSE00000719992 BRK 7 123514770 123514939 + 45 90 35 A,G; T,T NA NA NA GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTTTCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGCCAAGTCAGTATCTTGAAGGTATATTTAATGTTTT 123874715 123874885 NA NA NA NA NA NA GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTTTCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGCCAAGTCAGTATCTTGAAGGTATATTTAATGTTTT GTTTTACATTCAAATTAATAATGAACTCTACTGTCTTCAATCTAGCAAGATCTAGTCAGCACCATAGGAGAAAGTGCTGCCTTGGGAGCTGCAGGCATTGTTATTTGGGGAGACATGAATTTAACTGCATCCAAGGTAAGTCAGTATCTTGAAGGTATATTTAATGTTTT control 274 138 0 0 0 160 78 0 0 0 0.983509592778501 0.976924754397555 0.817892671199805 0.898972388726153 -0.983509592778501 -0.976924754397555 -0.817892671199805 -0.898972388726153 0.980217173588028 0.858432529962979 -0.980217173588028 -0.858432529962979 0.121784643625049 TRUE TRUE NA NA NA NA NA HYAL4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HYAL4 NA NA NA ENSG00000106302 ENSE00000719992 NA NA NA NA NA NA NA 2.05182329925812e-15 FALSE NA ENSE00000721401_000 ENSE00000721401 000 10 102733245 102733414 + 59 63 48 NA NA NA NA NA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 NA NA NA NA NA NA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA natural 85 79 0.85 0.85 0.85 1894 745 0.950668193138976 0.920744831972633 0.935706512555805 0.85 0.85 0.950668193138976 0.920744831972633 0 0 0 0 0.85 0.935706512555805 0 0 0 FALSE FALSE NA NA NA NA NA SEMA4G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA4G NA NA NA ENSG00000095539 ENSE00003534396 NA NA NA NA NA NA NA 0.000802235120632221 FALSE NA ENSE00000722103_000 ENSE00000722103 000 9 117170183 117170352 - 44 72 54 NA NA NA NA NA AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC 114407902 114408072 NA NA NA NA NA NA AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC natural NA NA NA NA NA 1034 809 0.99263275156059 0.984512177079266 0.988572464319928 NA NA 0.99263275156059 0.984512177079266 NA NA 0 0 NA 0.988572464319928 NA 0 NA FALSE NA NA NA NA NA NA DFNB31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WHRN NA NA NA ENSG00000095397 ENSE00000722103 NA NA NA NA NA NA NA NA NA NA ENSE00000722103_001 ENSE00000722103 001 9 117170183 117170352 - 44 72 54 A G 117170196 2072 157 AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCCCTCCCTGGTGTGC 114407902 114408072 114407915 114407916 114407916 downstr_intron 31 1.72093023255814 AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCCCTCCCTGGTGTGC AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC mutant NA NA NA NA NA 405 993 0.994273694160959 0.998491172944453 0.996382433552706 NA NA 0.99263275156059 0.984512177079266 NA NA 0.0016409426003694 0.013978995865187 NA 0.988572464319928 NA 0.00780996923277821 NA FALSE NA 0 -0.03 . intron_variant MODIFIER DFNB31 HGNC 16361 ENST00000362057 8/11 1 NA GAG A,G 8.26e-06 9:114407916 WHRN HGNC Symbol protein_coding 103370 ENSG00000095397 ENSE00000722103 intron_variant 0.088456 0.08482 0.00035 0.162113 0.639350008719513 0.0490229 NA NA NA ENSE00000722103_012 ENSE00000722103 012 9 117170183 117170352 - 44 72 54 G A 117170248 2083 105 AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAATGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC 114407902 114408072 114407967 114407968 114407968 exon -22 0.708333333333333 AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAATGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC mutant NA NA NA NA NA 141 156 0.00272382014458522 0.11786371646245 0.0602937683035176 NA NA 0.99263275156059 0.984512177079266 NA NA -0.989908931416005 -0.866648460616816 NA 0.988572464319928 NA -0.92827869601641 NA TRUE NA 0.223 1.018 rs138127153 synonymous_variant LOW DFNB31 HGNC 16361 ENST00000362057 8/12 rs138127153 1 NA A:0.0002 A:0 CGT G,A 0.0002226 9:114407968 WHRN HGNC Symbol protein_coding 103370 ENSG00000095397 ENSE00000722103 synonymous_variant -0.271626 0.19046 0.1146 0.706298 0.495561112233687 0 NA NA 0.000215041 ENSE00000722103_018 ENSE00000722103 018 9 117170183 117170352 - 44 72 54 C T 117170271 2089 82 AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCAAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC 114407902 114408072 114407990 114407991 114407991 exon 28 0.388888888888889 AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCAAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC mutant NA NA NA NA NA 320 37 1 0.8 0.9 NA NA 0.99263275156059 0.984512177079266 NA NA 0.00736724843941017 -0.184512177079266 NA 0.988572464319928 NA -0.0885724643199279 NA FALSE NA 0.867 1.53 . missense_variant MODERATE DFNB31 HGNC 16361 ENST00000362057 8/12 1 benign(0.018) NA TCG C,T 8.243e-06 9:114407991 WHRN HGNC Symbol protein_coding 103370 ENSG00000095397 ENSE00000722103 missense_variant 2.703821 0.92547 0.7869 0.615465 0.994055200434696 0 NA NA NA ENSE00000722103_025 ENSE00000722103 025 9 117170183 117170352 - 44 72 54 T C 117170295 2096 58 AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACGCTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC 114407902 114408072 114408014 114408015 114408015 exon 4 0.0555555555555556 AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACGCTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC mutant NA NA NA NA NA 271 52 1 1 1 NA NA 0.99263275156059 0.984512177079266 NA NA 0.00736724843941017 0.015487822920734 NA 0.988572464319928 NA 0.0114275356800721 NA FALSE NA 1 3.49 NA NA NA DFNB31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114408015 WHRN HGNC Symbol protein_coding 103370 ENSG00000095397 ENSE00000722103 missense_variant 1.672245 0.94698 0.83875 0.615465 0.994771479877797 0 NA NA 9.15483e-06 ENSE00000722103_033 ENSE00000722103 033 9 117170183 117170352 - 44 72 54 A C 117170329 2104 24 AGTGTTCCCTTCTCAGCTTCTGTGTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC 114407902 114408072 114408048 114408049 114408049 upstr_intron -31 -0.555555555555556 AGTGTTCCCTTCTCAGCTTCTGTGTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC mutant NA NA NA NA NA 75 92 1 1 1 NA NA 0.99263275156059 0.984512177079266 NA NA 0.00736724843941017 0.015487822920734 NA 0.988572464319928 NA 0.0114275356800721 NA FALSE NA 0 -0.543 . intron_variant MODIFIER DFNB31 HGNC 16361 ENST00000362057 7/11 1 NA AAA A,C 1.665e-05 9:114408049 WHRN HGNC Symbol protein_coding 103370 ENSG00000095397 ENSE00000722103 intron_variant 0.191919 0.21138 0.0776 0.078448 0.681315750004138 0.0727592 NA NA 1.10604e-05 ENSE00000722103_034 ENSE00000722103 034 9 117170183 117170352 - 44 72 54 G A 117170339 2105 14 AGTGTTCCCTTCTTAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC 114407902 114408072 114408058 114408059 114408059 upstr_intron -41 -0.740740740740741 AGTGTTCCCTTCTTAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC mutant NA NA NA NA NA 166 896 1 0.998672335586922 0.999336167793461 NA NA 0.99263275156059 0.984512177079266 NA NA 0.00736724843941017 0.0141601585076557 NA 0.988572464319928 NA 0.0107637034735329 NA FALSE NA 0 -0.966 . intron_variant MODIFIER DFNB31 HGNC 16361 ENST00000362057 7/11 1 NA TGA G,A 8.393e-06 9:114408059 WHRN HGNC Symbol protein_coding 103370 ENSG00000095397 ENSE00000722103 intron_variant 0.207537 0.18885 0.06581 0.078448 0.405204383440288 0.0562785 NA NA NA ENSE00000722103_BRK ENSE00000722103 BRK 9 117170183 117170352 - 44 72 54 A,G; T,T NA NA NA AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTTTAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGCCAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC 114407902 114408072 NA NA NA NA NA NA AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTTTAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGCCAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC AGTGTTCCCTTCTCAGCTTCTGTTTGCTCACTTTGCTTTCTCGTCCATTTCTAGAACACTCTGGACCTGGAGGAAACTGGCGAGGCTGTCCAGGGCAATATCAACGCCCTCCCAGATGTGTCCGTGGTAAGGCCCTGGCTGGCCCTTTGGTTCTGCTCTCCCTGGTGTGC control 22 33 0 0 0 NA NA NA NA NA NA NA 0.99263275156059 0.984512177079266 NA NA NA NA NA 0.988572464319928 NA NA NA NA NA NA NA NA NA NA DFNB31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WHRN NA NA NA ENSG00000095397 ENSE00000722103 NA NA NA NA NA NA NA NA NA NA ENSE00000723153_000 ENSE00000723153 000 9 119139801 119139970 + 54 72 44 NA NA NA NA NA GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC 116377521 116377691 NA NA NA NA NA NA GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC natural 30 30 0.99774166246757 0.998482979954335 0.998112321210953 722 1048 0.931512414345479 0.995327836295362 0.963420125320421 0.99774166246757 0.998482979954335 0.931512414345479 0.995327836295362 0 0 0 0 0.998112321210953 0.963420125320421 0 0 0 FALSE FALSE NA NA NA NA NA PAPPA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA NA NA NA ENSG00000182752 ENSE00003567995 NA NA NA NA NA NA NA 0.967751416645701 TRUE NA ENSE00000723153_004 ENSE00000723153 004 9 119139801 119139970 + 54 72 44 C T 119139843 2133 43 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCTTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC 116377521 116377691 116377563 116377564 116377564 upstr_intron -12 -0.203703703703704 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCTTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC mutant NA NA NA NA NA 522 1298 0.998731719442123 0.998751237588341 0.998741478515232 0.99774166246757 0.998482979954335 0.931512414345479 0.995327836295362 NA NA 0.0672193050966443 0.00342340129297902 0.998112321210953 0.963420125320421 NA 0.0353213531948117 NA FALSE NA 0 -0.557 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 19/21 1 NA CCT C,T 4.942e-05 9:116377564 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003567995 intron_variant 0.433037 0.28608 0.02875 0.149833 0.492055393174742 0.298199 0.967751416645701 TRUE 5.69495e-05 ENSE00000723153_005 ENSE00000723153 005 9 119139801 119139970 + 54 72 44 G C 119139856 2134 56 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGACAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC 116377521 116377691 116377576 116377577 116377577 exon 2 0.0277777777777778 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGACAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC mutant NA NA NA NA NA 95 281 0.996482046391336 1 0.998241023195668 0.99774166246757 0.998482979954335 0.931512414345479 0.995327836295362 NA NA 0.0649696320458572 0.00467216370463763 0.998112321210953 0.963420125320421 NA 0.0348208978752474 NA FALSE NA 1 3.318 rs140578244 missense_variant&splice_region_variant MODERATE PAPPA HGNC 8602 ENST00000328252 20/22 rs140578244 1 tolerated(0.1) benign(0.227) NA A:0.0002 A:0 AGA G,C 8.236e-06 9:116377577 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003567995 missense_variant 2.793487 0.95263 0.85736 0.554377 0.945547740035819 0 0.967751416645701 TRUE 8.13035e-06 ENSE00000723153_009 ENSE00000723153 009 9 119139801 119139970 + 54 72 44 G T 119139902 2138 102 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTTATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC 116377521 116377691 116377622 116377623 116377623 exon -25 0.666666666666667 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTTATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC mutant NA NA NA NA NA 75 24 1 1 1 0.99774166246757 0.998482979954335 0.931512414345479 0.995327836295362 NA NA 0.0684875856545213 0.00467216370463763 0.998112321210953 0.963420125320421 NA 0.0365798746795795 NA FALSE NA 1 0.811 NA NA NA PAPPA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:116377623 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003567995 synonymous_variant 1.31145 0.94603 0.70778 0.554377 0.82139159089563 0 0.967751416645701 TRUE NA ENSE00000723153_012 ENSE00000723153 012 9 119139801 119139970 + 54 72 44 C T 119139948 2141 148 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTTCTCAGTTCCCTGGAAATAATCC 116377521 116377691 116377668 116377669 116377669 downstr_intron 22 1.51162790697674 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTTCTCAGTTCCCTGGAAATAATCC GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC mutant NA NA NA NA NA 75 12 1 1 1 0.99774166246757 0.998482979954335 0.931512414345479 0.995327836295362 NA NA 0.0684875856545213 0.00467216370463763 0.998112321210953 0.963420125320421 NA 0.0365798746795795 NA FALSE NA 0 -0.41 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 20/21 1 NA TCC C,T 8.237e-06 9:116377669 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003567995 intron_variant 0.349152 0.26856 0.01386 0.126639 0.263197252061401 0.13282 0.967751416645701 TRUE 4.07857e-06 ENSE00000723153_013 ENSE00000723153 013 9 119139801 119139970 + 54 72 44 C T 119139957 2142 157 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCTCTGGAAATAATCC 116377521 116377691 116377677 116377678 116377678 downstr_intron 31 1.72093023255814 GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCTCTGGAAATAATCC GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC mutant NA NA NA NA NA 238 420 0.999826958541722 1 0.999913479270861 0.99774166246757 0.998482979954335 0.931512414345479 0.995327836295362 NA NA 0.0683145441962432 0.00467216370463763 0.998112321210953 0.963420125320421 NA 0.0364933539504404 NA FALSE NA 0 -1.93 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 20/21 1 NA CCC C,T 1.647e-05 9:116377678 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003567995 intron_variant 0.576238 0.28392 0.01059 0.126639 0.637401566847624 0.0998104 0.967751416645701 TRUE 1.22689e-05 ENSE00000723153_BRK ENSE00000723153 BRK 9 119139801 119139970 + 54 72 44 A,G; T,T NA NA NA GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACTTAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGCCGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC 116377521 116377691 NA NA NA NA NA NA GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACTTAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGCCGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC GTGGGTCCCTCCCAATCCCAAGCCCATCTGACCTTTCTCTCCCTCTTCCCACAGAGAGTTGTCTGCACTGCTGGTCTCAAGTGGTATCCTCACCCTGCTCTGATTCACTGTGTCAAAGGCTGTGAGGTGAGTCACAAGGAAGGCACTCCTCAGTTCCCTGGAAATAATCC control 34 48 0.0381505430343941 0 0.019075271517197 NA NA NA NA NA 0.99774166246757 0.998482979954335 0.931512414345479 0.995327836295362 -0.959591119433176 -0.998482979954335 NA NA 0.998112321210953 0.963420125320421 -0.979037049693755 NA NA NA TRUE NA NA NA NA NA PAPPA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA NA NA NA ENSG00000182752 ENSE00003567995 NA NA NA NA NA NA NA 0.967751416645701 TRUE NA ENSE00000723157_000 ENSE00000723157 000 9 119144633 119144802 + 41 99 30 NA NA NA NA NA GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 NA NA NA NA NA NA GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC natural 43 48 0.993417482792988 0.994902809592121 0.994160146192554 2568 3811 0.979150603079754 0.998272168714602 0.988711385897178 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 0 0 0 0 0.994160146192554 0.988711385897178 0 0 0 FALSE FALSE NA NA NA NA NA PAPPA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA NA NA NA ENSG00000182752 ENSE00003655016 NA NA NA NA NA NA NA 0.967751416645701 TRUE NA ENSE00000723157_001 ENSE00000723157 001 9 119144633 119144802 + 41 99 30 C T 119144643 2143 11 GCTAACAAGGTCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382363 116382364 116382364 upstr_intron -31 -0.731707317073171 GCTAACAAGGTCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 246 133 0.998314984217567 1 0.999157492108783 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0191643811378125 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0104461062116055 NA FALSE NA 0 -0.691 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 20/21 1 NA GCC C,T 8.237e-06 9:116382364 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 intron_variant 0.965032 0.27009 0.0189 0.078448 0.724935292839422 0.0557375 0.967751416645701 TRUE 4.07428e-06 ENSE00000723157_002 ENSE00000723157 002 9 119144633 119144802 + 41 99 30 C G 119144646 2144 14 GCTAACAAGGCCTGATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382366 116382367 116382367 upstr_intron -28 -0.658536585365854 GCTAACAAGGCCTGATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 693 593 0.997054107329188 0.945208442986453 0.97113127515782 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0179035042494334 -0.0530637257281487 0.994160146192554 0.988711385897178 NA -0.0175801107393576 NA FALSE NA 0 -0.276 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:116382367 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 intron_variant 0.650368 0.27499 0.04084 0.078448 0.739476840125765 0.0831035 0.967751416645701 TRUE NA ENSE00000723157_003 ENSE00000723157 003 9 119144633 119144802 + 41 99 30 C T 119144646 2145 14 GCTAACAAGGCCTTATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382366 116382367 116382367 upstr_intron -28 -0.658536585365854 GCTAACAAGGCCTTATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 199 94 1 1 1 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0112886141028221 NA FALSE NA 0 -0.276 NA NA NA PAPPA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA NA NA NA ENSG00000182752 ENSE00003655016 intron_variant 0.935554 0.24831 0.02953 0.078448 0.761800196498779 0.0831035 0.967751416645701 TRUE 2.85086e-05 ENSE00000723157_004 ENSE00000723157 004 9 119144633 119144802 + 41 99 30 T G 119144650 2146 18 GCTAACAAGGCCTCATTGCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382370 116382371 116382371 upstr_intron -24 -0.560975609756098 GCTAACAAGGCCTCATTGCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 289 115 1 1 1 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0112886141028221 NA FALSE NA 0.001 0.202 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 20/21 1 NA TTC T,G 8.237e-06 9:116382371 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 intron_variant 0.630043 0.35211 0.05118 0.078448 0.620394931356809 0.0831035 0.967751416645701 TRUE 4.07123e-06 ENSE00000723157_005 ENSE00000723157 005 9 119144633 119144802 + 41 99 30 C T 119144658 2147 26 GCTAACAAGGCCTCATTTCCTCCTTTTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382378 116382379 116382379 upstr_intron -16 -0.365853658536585 GCTAACAAGGCCTCATTTCCTCCTTTTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 393 22 0.997811867596948 1 0.998905933798474 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0186612645171932 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0101945479012958 NA FALSE NA 0 -0.109 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 20/21 1 NA TCT C,T 4.942e-05 9:116382379 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 intron_variant 0.753803 0.27435 0.01824 0.078448 0.724953530439266 0.0831531 0.967751416645701 TRUE 7.73276e-05 ENSE00000723157_006 ENSE00000723157 006 9 119144633 119144802 + 41 99 30 C T 119144665 2148 33 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCTCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382385 116382386 116382386 upstr_intron -9 -0.195121951219512 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCTCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 305 1608 1 1 1 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0112886141028221 NA FALSE NA 0 -0.148 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 20/21 1 NA CCC C,T 8.237e-06 9:116382386 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 intron_variant 0.483886 0.35128 0.11713 0.078448 0.717082365949042 0.122741 0.967751416645701 TRUE 8.13769e-06 ENSE00000723157_007 ENSE00000723157 007 9 119144633 119144802 + 41 99 30 C A 119144674 2149 42 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGACCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382394 116382395 116382395 exon 1 0.0101010101010101 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGACCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 386 351 1 1 1 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0112886141028221 NA FALSE NA 1 7.176 . missense_variant&splice_region_variant MODERATE PAPPA HGNC 8602 ENST00000328252 21/22 1 deleterious(0) possibly_damaging(0.876) NA GCC C,A 1.647e-05 9:116382395 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 missense_variant 6.703881 0.99657 0.99746 0.553676 0.997473365543935 0 0.967751416645701 TRUE 2.44109e-05 ENSE00000723157_008 ENSE00000723157 008 9 119144633 119144802 + 41 99 30 C A 119144703 2150 71 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCAATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382423 116382424 116382424 exon 30 0.303030303030303 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCAATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 381 586 1 1 1 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0112886141028221 NA FALSE NA 0.982 0.167 . synonymous_variant LOW PAPPA HGNC 8602 ENST00000328252 21/22 rs199581910 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CCA C,A 1.647e-05 9:116382424 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 synonymous_variant 2.16951 0.98267 0.8679 0.553676 0.776662605146908 0 0.967751416645701 TRUE 1.22016e-05 ENSE00000723157_009 ENSE00000723157 009 9 119144633 119144802 + 41 99 30 G A 119144723 2151 91 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTACAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382443 116382444 116382444 exon -50 0.505050505050505 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTACAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 412 243 0.999900070555835 0.96098794678589 0.980444008670863 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0207494674760808 -0.0372842219287114 0.994160146192554 0.988711385897178 NA -0.00826737722631532 NA FALSE NA 1 9.345 . missense_variant MODERATE PAPPA HGNC 8602 ENST00000328252 21/22 1 deleterious(0) possibly_damaging(0.712) NA TGC G,A 8.236e-06 9:116382444 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 missense_variant 6.356282 0.99583 0.99091 0.553676 0.998175351357867 0 0.967751416645701 TRUE 4.06689e-06 ENSE00000723157_010 ENSE00000723157 010 9 119144633 119144802 + 41 99 30 C T 119144733 2152 101 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGATGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382453 116382454 116382454 exon -40 0.606060606060606 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGATGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 271 510 0.903555989033526 0.992662597286453 0.948109293159989 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA -0.0755946140462287 -0.00560957142814844 0.994160146192554 0.988711385897178 NA -0.0406020927371886 NA FALSE NA 0.987 0.123 rs140928157 synonymous_variant LOW PAPPA HGNC 8602 ENST00000328252 21/22 rs140928157&COSM1459618 1 NA T:0 T:0.0001 ACG C,T 0.0002059 9:116382454 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 synonymous_variant 1.883197 0.96455 0.36648 0.553676 0.770698192150292 0 0.967751416645701 TRUE 0.000154557 ENSE00000723157_011 ENSE00000723157 011 9 119144633 119144802 + 41 99 30 G A 119144734 2153 102 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACAGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382454 116382455 116382455 exon -39 0.616161616161616 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACAGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 1784 225 0.997458112741305 0.999296449819022 0.998377281280163 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0183075096615508 0.00102428110442032 0.994160146192554 0.988711385897178 NA 0.00966589538298557 NA FALSE NA 1 7.503 . missense_variant MODERATE PAPPA HGNC 8602 ENST00000328252 21/22 rs372756083&COSM1104515 1 deleterious(0) probably_damaging(0.961) NA A:0.0005 A:0 CGG G,A 1.647e-05 9:116382455 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 missense_variant 7.458878 0.99583 0.98525 0.553676 0.998599080663221 0 0.967751416645701 TRUE 1.22024e-05 ENSE00000723157_012 ENSE00000723157 012 9 119144633 119144802 + 41 99 30 C T 119144750 2154 118 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCATCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382470 116382471 116382471 exon -23 0.777777777777778 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCATCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 376 1936 1 0.999546594052318 0.999773297026159 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.0012744253377166 0.994160146192554 0.988711385897178 NA 0.0110619111289811 NA FALSE NA 0.904 4.764 rs145314311 missense_variant MODERATE PAPPA HGNC 8602 ENST00000328252 21/22 rs145314311&COSM3321683 1 deleterious(0.05) possibly_damaging(0.507) T:0.0010 T:0 T:0 NA T:0.005 T:0 T:0 T:0.0002 T:0 ACC C,T 0.0004859 9:116382471 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 missense_variant 4.985522 0.98883 0.90804 0.553676 0.993424803750607 0 0.967751416645701 TRUE 0.000557327 ENSE00000723157_013 ENSE00000723157 013 9 119144633 119144802 + 41 99 30 C T 119144766 2155 134 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACTAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382486 116382487 116382487 exon -7 0.939393939393939 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACTAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 165 192 1 1 1 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0112886141028221 NA FALSE NA 0.999 0.691 . synonymous_variant LOW PAPPA HGNC 8602 ENST00000328252 21/22 1 NA CCA C,T 8.236e-06 9:116382487 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 synonymous_variant 1.911029 0.98388 0.82704 0.554377 0.754746451916033 0 0.967751416645701 TRUE 4.06977e-06 ENSE00000723157_014 ENSE00000723157 014 9 119144633 119144802 + 41 99 30 A C 119144769 2156 137 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAACAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382489 116382490 116382490 exon -4 0.96969696969697 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAACAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 93 324 1 1 1 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0112886141028221 NA FALSE NA 1 1.98 . missense_variant MODERATE PAPPA HGNC 8602 ENST00000328252 21/22 1 deleterious(0.01) benign(0.403) NA AAA A,C 8.236e-06 9:116382490 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 missense_variant 4.157816 0.98162 0.88992 0.554377 0.998403404546933 0 0.967751416645701 TRUE 4.06941e-06 ENSE00000723157_015 ENSE00000723157 015 9 119144633 119144802 + 41 99 30 G A 119144776 2157 144 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAAGCCAGTGTGCACTCCTCGGCAGCTGC 116382353 116382523 116382496 116382497 116382497 downstr_intron 4 1.13793103448276 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAAGCCAGTGTGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 378 883 1 1 1 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0208493969202457 0.00172783128539844 0.994160146192554 0.988711385897178 NA 0.0112886141028221 NA FALSE NA 0.973 0.034 . splice_region_variant&intron_variant LOW PAPPA HGNC 8602 ENST00000328252 21/21 1 NA AGG G,A 8.236e-06 9:116382497 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 splice_region_variant 1.696108 0.97142 0.37425 0.078448 0.692483451937701 0.512911 0.967751416645701 TRUE 4.07103e-06 ENSE00000723157_016 ENSE00000723157 016 9 119144633 119144802 + 41 99 30 T C 119144784 2158 152 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGCGCACTCCTCGGCAGCTGC 116382353 116382523 116382504 116382505 116382505 downstr_intron 12 1.41379310344828 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGCGCACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 212 283 0.966834777340913 0.992539017373552 0.979686897357233 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA -0.0123158257388417 -0.00573315134104913 0.994160146192554 0.988711385897178 NA -0.00902448853994542 NA FALSE NA 0 -0.359 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 21/21 1 NA GTG T,C 8.237e-06 9:116382505 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 intron_variant 0.219383 0.25872 0.01452 0.078448 0.509117945241592 0.123372 0.967751416645701 TRUE NA ENSE00000723157_017 ENSE00000723157 017 9 119144633 119144802 + 41 99 30 C T 119144786 2159 154 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGTACTCCTCGGCAGCTGC 116382353 116382523 116382506 116382507 116382507 downstr_intron 14 1.48275862068966 GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGTACTCCTCGGCAGCTGC GCTAACAAGGCCTCATTTCCTCCTTCTGTCTCCCTTTCCAGCCCTTCATGGGAGACAATTATTGTGATGCCATCAACAACCGAGCCTTTTGCAACTATGACGGTGGGGATTGCTGCACCTCCACAGTGAAGACCAAAAAGGTAGGCCAGTGTGCACTCCTCGGCAGCTGC mutant NA NA NA NA NA 1223 131 0.999663018202337 0.993969918048483 0.99681646812541 0.993417482792988 0.994902809592121 0.979150603079754 0.998272168714602 NA NA 0.0205124151225824 -0.00430225066611833 0.994160146192554 0.988711385897178 NA 0.00810508222823203 NA FALSE NA 0 -1.618 . intron_variant MODIFIER PAPPA HGNC 8602 ENST00000328252 21/21 1 NA GCA C,T 8.237e-06 9:116382507 PAPPA HGNC Symbol protein_coding 248518 ENSG00000182752 ENSE00003655016 intron_variant 0.003428 0.14448 0.03622 0.078448 0.473789227000845 0.088165 0.967751416645701 TRUE 1.22285e-05 ENSE00000723701_000 ENSE00000723701 000 10 108466268 108466437 - 35 90 45 NA NA NA NA NA GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 NA NA NA NA NA NA GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG natural 665 890 0.816310378431309 0.826432379540817 0.821371378986063 7640 5252 0.894022969501517 0.941552174268076 0.917787571884797 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0 0 0 0 0.821371378986063 0.917787571884797 0 0 0 FALSE FALSE NA NA NA NA NA SORCS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SORCS1 NA NA NA ENSG00000108018 ENSE00000723701 NA NA NA NA NA NA NA 0.969565842045511 TRUE NA ENSE00000723701_001 ENSE00000723701 001 10 108466268 108466437 - 35 90 45 T C 108466279 2521 159 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCGTTTCACTCTTG 106706509 106706679 106706520 106706521 106706521 downstr_intron 24 1.70588235294118 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCGTTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 86 177 0.84360002176375 0.85 0.846800010881875 NA NA NA NA NA 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.027289643332441 0.0235676204591825 NA NA 0.821371378986063 0.917787571884797 0.0254286318958117 NA NA NA FALSE 0 -1.468 . intron_variant MODIFIER SORCS1 HGNC 16697 ENST00000263054 8/25 1 NA ATG T,C 8.236e-06 10:106706521 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 intron_variant 0.192809 0.24179 0.04964 0.053691 0.603434035149457 0.0448206 0.969565842045511 TRUE 4.06392e-06 ENSE00000723701_002 ENSE00000723701 002 10 108466268 108466437 - 35 90 45 A G 108466284 2522 154 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTCCTTCATTTCACTCTTG 106706509 106706679 106706525 106706526 106706526 downstr_intron 19 1.55882352941176 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTCCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 35 40 0.85 0.85 0.85 NA NA NA NA NA 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.0336896215686909 0.0235676204591825 NA NA 0.821371378986063 0.917787571884797 0.0286286210139367 NA NA NA FALSE 0 1.18 . intron_variant MODIFIER SORCS1 HGNC 16697 ENST00000263054 8/25 1 NA GAA A,G 8.237e-06 10:106706526 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 intron_variant -0.264554 0.2374 0.09619 0.053691 0.394614768774499 0.0448206 0.969565842045511 TRUE 4.06303e-06 ENSE00000723701_003 ENSE00000723701 003 10 108466268 108466437 - 35 90 45 C T 108466297 2523 141 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGACCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706538 106706539 106706539 downstr_intron 6 1.17647058823529 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGACCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 2324 2453 0.954256038512522 0.995203672340961 0.974729855426741 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.0602330690110051 0.0536514980728845 0.821371378986063 0.917787571884797 NA 0.0569422835419448 NA FALSE NA 0 -1.079 . splice_region_variant&intron_variant LOW SORCS1 HGNC 16697 ENST00000263054 8/25 1 NA GCC C,T 1.647e-05 10:106706539 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 splice_region_variant 1.172699 0.25123 0.01615 0.053691 0.657475032147596 0.0945671 0.969565842045511 TRUE 8.12381e-06 ENSE00000723701_004 ENSE00000723701 004 10 108466268 108466437 - 35 90 45 A T 108466299 2524 139 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTAAGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706540 106706541 106706541 downstr_intron 4 1.11764705882353 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTAAGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 1453 956 0.962056610554125 0.921990929212563 0.942023769883344 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.068033641052608 -0.019561245055513 0.821371378986063 0.917787571884797 NA 0.0242361979985475 NA FALSE NA 0 0.054 . splice_region_variant&intron_variant LOW SORCS1 HGNC 16697 ENST00000263054 8/25 1 NA CAT A,T 1.647e-05 10:106706541 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 splice_region_variant 1.135893 0.267 0.02649 0.053691 0.732287337987905 0.333306 0.969565842045511 TRUE 1.21838e-05 ENSE00000723701_005 ENSE00000723701 005 10 108466268 108466437 - 35 90 45 G A 108466306 2525 132 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCTAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706547 106706548 106706548 exon -4 0.966666666666667 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCTAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 1321 2371 0.989755880265668 0.890043198516201 0.939899539390934 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.095732910764151 -0.0515089757518754 0.821371378986063 0.917787571884797 NA 0.0221119675061378 NA FALSE NA 0.998 0.205 rs140248779 synonymous_variant LOW SORCS1 HGNC 16697 ENST00000263054 8/26 rs140248779 1 A:0.0022 A:0.0083 A:0 NA A:0 A:0 A:0 A:0.0098 A:0 TGG G,A 0.0007001 10:106706548 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 synonymous_variant 1.090765 0.97712 0.83086 0.615465 0.690042695150231 0 0.969565842045511 TRUE 0.000625426 ENSE00000723701_006 ENSE00000723701 006 10 108466268 108466437 - 35 90 45 G C 108466336 2526 102 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCGCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706577 106706578 106706578 exon -34 0.633333333333333 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCGCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 1878 528 0.997631010082025 0.984340907264918 0.990985958673472 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.103608040580508 0.0427887329968422 0.821371378986063 0.917787571884797 NA 0.073198386788675 NA FALSE NA 0.98 -0.077 . synonymous_variant LOW SORCS1 HGNC 16697 ENST00000263054 8/26 1 NA GGG G,C 1.647e-05 10:106706578 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 synonymous_variant 0.871365 0.96435 0.7329 0.615465 0.65891309306971 0 0.969565842045511 TRUE 2.03049e-05 ENSE00000723701_007 ENSE00000723701 007 10 108466268 108466437 - 35 90 45 T G 108466342 2527 96 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCCTTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706583 106706584 106706584 exon -40 0.566666666666667 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCCTTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 302 722 0.95262941620004 0.954862442352632 0.953745929276336 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.058606446698523 0.0133102680845557 0.821371378986063 0.917787571884797 NA 0.0359583573915394 NA FALSE NA 0 -9.864 . synonymous_variant LOW SORCS1 HGNC 16697 ENST00000263054 8/26 1 NA ATG T,G 8.236e-06 10:106706584 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 synonymous_variant 0.813 0.12124 0.01038 0.615465 0.492905271565853 0 0.969565842045511 TRUE 4.06101e-06 ENSE00000723701_008 ENSE00000723701 008 10 108466268 108466437 - 35 90 45 A C 108466345 2528 93 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAAGGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706586 106706587 106706587 exon -43 0.533333333333333 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAAGGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 45 103 0.85 0.85 0.85 1606 1284 0.870430158818779 0.956589388135534 0.913509773477157 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.0336896215686909 0.0235676204591826 -0.023592810682738 0.0150372138674584 0.821371378986063 0.917787571884797 0.0286286210139368 -0.00427779840763981 0.0329064194215766 FALSE FALSE 0.012 -0.398 . missense_variant MODERATE SORCS1 HGNC 16697 ENST00000263054 8/26 1 tolerated(0.08) benign(0.016) NA CAT A,C 8.236e-06 10:106706587 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 missense_variant -0.03795 0.58471 0.11709 0.615465 0.903186268190132 0 0.969565842045511 TRUE NA ENSE00000723701_010 ENSE00000723701 010 10 108466268 108466437 - 35 90 45 G A 108466353 2530 85 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACTGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706594 106706595 106706595 exon 40 0.444444444444444 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACTGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 53 90 0.85 0.85 0.85 NA NA NA NA NA 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.0336896215686909 0.0235676204591825 NA NA 0.821371378986063 0.917787571884797 0.0286286210139367 NA NA NA FALSE 1 2.812 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:106706595 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 stop_gained 12.67034 0.98289 0.87306 0.615465 0.998470096891936 0 0.969565842045511 TRUE 4.06108e-06 ENSE00000723701_011 ENSE00000723701 011 10 108466268 108466437 - 35 90 45 G T 108466353 2531 85 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACAGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706594 106706595 106706595 exon 40 0.444444444444444 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACAGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 70 13 0.85 0.85 0.85 2118 748 0.944849695659022 0.933961689200616 0.939405692429819 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.0336896215686909 0.0235676204591824 0.0508267261575046 -0.00759048506745974 0.821371378986063 0.917787571884797 0.0286286210139367 0.0216181205450224 0.00701050046891422 FALSE FALSE 1 2.812 NA NA NA SORCS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SORCS1 NA NA NA ENSG00000108018 ENSE00000723701 synonymous_variant 1.743855 0.98172 0.73793 0.615465 0.632490441737692 0 0.969565842045511 TRUE 4.06108e-06 ENSE00000723701_012 ENSE00000723701 012 10 108466268 108466437 - 35 90 45 G A 108466357 2532 81 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCTTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706598 106706599 106706599 exon 36 0.4 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCTTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 36 44 0.85 0.85 0.85 671 195 0.839204977333627 0.964973132912865 0.902089055123246 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.0336896215686909 0.0235676204591825 -0.0548179921678896 0.0234209586447892 0.821371378986063 0.917787571884797 0.0286286210139367 -0.0156985167615502 0.0443271377754869 FALSE FALSE 0.998 0.224 . synonymous_variant LOW SORCS1 HGNC 16697 ENST00000263054 8/26 1 NA AGG G,A 2.471e-05 10:106706599 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 synonymous_variant 0.988208 0.95645 0.69319 0.615465 0.709350858532267 0 0.969565842045511 TRUE 1.2183e-05 ENSE00000723701_013 ENSE00000723701 013 10 108466268 108466437 - 35 90 45 C G 108466360 2533 78 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTCTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706601 106706602 106706602 exon 33 0.366666666666667 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTCTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 47 1215 0.988031451791402 0.98981193573665 0.988921693764026 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.0940084822898849 0.0482597614685742 0.821371378986063 0.917787571884797 NA 0.0711341218792296 NA FALSE NA 0.999 0.466 . synonymous_variant LOW SORCS1 HGNC 16697 ENST00000263054 8/26 1 NA ACA C,G 8.236e-06 10:106706602 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 synonymous_variant 1.407891 0.97685 0.84901 0.615465 0.680781241464094 0 0.969565842045511 TRUE 4.06138e-06 ENSE00000723701_014 ENSE00000723701 014 10 108466268 108466437 - 35 90 45 A G 108466361 2534 77 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGCGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706602 106706603 106706603 exon 32 0.355555555555556 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGCGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 20 44 0.924012475833517 0.85 0.887006237916758 2497 567 0.951443563833448 0.974896604766137 0.963170084299792 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.107702097402207 0.0235676204591825 0.0574205943319305 0.0333444304980612 0.821371378986063 0.917787571884797 0.065634858930695 0.0453825124149959 0.0202523465156991 FALSE FALSE 1 6.911 . missense_variant MODERATE SORCS1 HGNC 16697 ENST00000263054 8/26 1 deleterious(0.01) probably_damaging(0.97) NA CAC A,G 1.647e-05 10:106706603 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 missense_variant 5.89203 0.99362 0.98477 0.615465 0.998931746055917 0 0.969565842045511 TRUE 8.12242e-06 ENSE00000723701_015 ENSE00000723701 015 10 108466268 108466437 - 35 90 45 A T 108466369 2535 69 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACAATACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706610 106706611 106706611 exon 24 0.266666666666667 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACAATACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 728 1682 0.97796945627714 0.972099912580348 0.975034684428744 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.0839464867756227 0.0305477383122715 0.821371378986063 0.917787571884797 NA 0.0572471125439471 NA FALSE NA 0.999 0.563 . missense_variant MODERATE SORCS1 HGNC 16697 ENST00000263054 8/26 1 tolerated(0.25) benign(0.444) NA AAT A,T 1.647e-05 10:106706611 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 missense_variant 1.017365 0.97675 0.81438 0.615465 0.886987204903419 0 0.969565842045511 TRUE 8.12262e-06 ENSE00000723701_018 ENSE00000723701 018 10 108466268 108466437 - 35 90 45 G A 108466392 2538 46 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGTTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706633 106706634 106706634 exon 1 0.0111111111111111 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGTTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 104 96 0.839386644308555 0.85 0.844693322154278 NA NA NA NA NA 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.023076265877246 0.0235676204591825 NA NA 0.821371378986063 0.917787571884797 0.0233219431682142 NA NA NA FALSE 1 1.09 NA NA NA SORCS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:106706634 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 splice_region_variant 1.278874 0.9784 0.78456 0.615465 0.75519751620068 0 0.969565842045511 TRUE 4.469e-05 ENSE00000723701_019 ENSE00000723701 019 10 108466268 108466437 - 35 90 45 G T 108466396 2539 42 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATACAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706637 106706638 106706638 upstr_intron -4 -0.0666666666666667 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATACAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 976 640 0.996108740153479 0.999103025624657 0.997605882889068 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.102085770651962 0.0575508513565813 0.821371378986063 0.917787571884797 NA 0.0798183110042716 NA FALSE NA 0 -0.511 . splice_region_variant&intron_variant LOW SORCS1 HGNC 16697 ENST00000263054 7/25 1 NA GGA G,T 8.236e-06 10:106706638 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 splice_region_variant 0.140175 0.22016 0.10419 0.053691 0.489836593704446 0.119419 0.969565842045511 TRUE 4.06352e-06 ENSE00000723701_020 ENSE00000723701 020 10 108466268 108466437 - 35 90 45 T C 108466401 2540 37 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTGTGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706642 106706643 106706643 upstr_intron -9 -0.177777777777778 GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTGTGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 561 437 0.920627522340516 0.98740816300126 0.954017842670888 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.0266045528389988 0.0458559887331838 0.821371378986063 0.917787571884797 NA 0.0362302707860913 NA FALSE NA 0 -3.16 . intron_variant MODIFIER SORCS1 HGNC 16697 ENST00000263054 7/25 1 NA ATA T,C 6.589e-05 10:106706643 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 intron_variant -0.021692 0.15571 0.01943 0.053691 0.417852423016147 0.106061 0.969565842045511 TRUE 2.84444e-05 ENSE00000723701_021 ENSE00000723701 021 10 108466268 108466437 - 35 90 45 C T 108466412 2541 26 GTTACAGTAGCTCGAGCTTCTTACAATCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706653 106706654 106706654 upstr_intron -20 -0.422222222222222 GTTACAGTAGCTCGAGCTTCTTACAATCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 39 125 0.925012478024157 0.85 0.887506239012078 NA NA NA NA NA 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.108702099592848 0.0235676204591824 NA NA 0.821371378986063 0.917787571884797 0.066134860026015 NA NA NA FALSE 0 -1.48 rs2756231 intron_variant MODIFIER SORCS1 HGNC 16697 ENST00000263054 7/25 rs2756231 1 C:0.0563 T:0.9107 T:0.9755 NA T:0.88 T:0.996 T:0.9775 T:0.9394 T:0.998 ACT T,T 0.978 10:106706654 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 intron_variant -0.278186 0.16876 0.00292 0.053691 0.545645291912306 0.0882499 0.969565842045511 TRUE 0.979247 ENSE00000723701_022 ENSE00000723701 022 10 108466268 108466437 - 35 90 45 T A 108466413 2542 25 GTTACAGTAGCTCGAGCTTCTTACTGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706654 106706655 106706655 upstr_intron -21 -0.444444444444444 GTTACAGTAGCTCGAGCTTCTTACTGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 519 296 0.994039399352383 0.998556541497623 0.996297970425003 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA 0.100016429850866 0.0570043672295467 0.821371378986063 0.917787571884797 NA 0.0785103985402064 NA FALSE NA 0.002 -0.457 . intron_variant MODIFIER SORCS1 HGNC 16697 ENST00000263054 7/25 1 NA CTG T,A 8.237e-06 10:106706655 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 intron_variant 0.539867 0.25194 0.03628 0.053691 0.685137831217869 0.0882499 0.969565842045511 TRUE 1.22001e-05 ENSE00000723701_023 ENSE00000723701 023 10 108466268 108466437 - 35 90 45 A G 108466417 2543 21 GTTACAGTAGCTCGAGCTTCCTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706658 106706659 106706659 upstr_intron -25 -0.533333333333333 GTTACAGTAGCTCGAGCTTCCTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant NA NA NA NA NA 627 115 0.00139246004166465 0.00319465247765747 0.00229355625966106 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 NA NA -0.892630509459852 -0.938357521790419 0.821371378986063 0.917787571884797 NA -0.915494015625135 NA TRUE NA 0.198 4.121 . intron_variant MODIFIER SORCS1 HGNC 16697 ENST00000263054 7/25 1 NA AAG A,G 2.471e-05 10:106706659 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 intron_variant 0.359981 0.28015 0.57283 0.053691 0.426645897784183 0.135668 0.969565842045511 TRUE 1.2199e-05 ENSE00000723701_024 ENSE00000723701 024 10 108466268 108466437 - 35 90 45 C T 108466424 2544 14 GTTACAGTAGCTCAAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 106706665 106706666 106706666 upstr_intron -32 -0.688888888888889 GTTACAGTAGCTCAAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG mutant 683 954 0.84919705657517 0.85 0.849598528287585 1317 414 0.827723914697113 0.881396023882777 0.854559969289945 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 0.0328866781438607 0.0235676204591825 -0.066299054804404 -0.0601561503852986 0.821371378986063 0.917787571884797 0.0282271493015216 -0.0632276025948513 0.0914547518963729 FALSE FALSE 0 0.212 . intron_variant MODIFIER SORCS1 HGNC 16697 ENST00000263054 7/25 rs370287814 1 NA T:0.0002 T:0 TCG C,T 7.413e-05 10:106706666 SORCS1 HGNC Symbol protein_coding 590871 ENSG00000108018 ENSE00000723701 intron_variant -0.078093 0.25543 0.04688 0.053691 0.357222572165728 0.108358 0.969565842045511 TRUE 6.10595e-05 ENSE00000723701_BRK ENSE00000723701 BRK 10 108466268 108466437 - 35 90 45 A,G; T,T NA NA NA GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCTTCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGCCATGGCCTAAATCACTTTCTTCATTTCACTCTTG 106706509 106706679 NA NA NA NA NA NA GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCTTCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGCCATGGCCTAAATCACTTTCTTCATTTCACTCTTG GTTACAGTAGCTCGAGCTTCTTACAGTCTTGTTTTTATGATCCAGCTGACATCAGGAGGGCGGCCACATTACTACGTGTCCTACCGAAGGAATGCATTTGCCCAAATGAAGCTTCCGAAATATGCTTTGCCCAAGGTATGGCCTAAATCACTTTCTTCATTTCACTCTTG control 28 20 0 0 0 1808 180 0.0127223702679089 0.00178204728929515 0.00725220877860205 0.816310378431309 0.826432379540817 0.894022969501517 0.941552174268076 -0.816310378431309 -0.826432379540817 -0.881300599233608 -0.939770126978781 0.821371378986063 0.917787571884797 -0.821371378986063 -0.910535363106195 0.0891639841201313 TRUE TRUE NA NA NA NA NA SORCS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SORCS1 NA NA NA ENSG00000108018 ENSE00000723701 NA NA NA NA NA NA NA 0.969565842045511 TRUE NA ENSE00000724298_000 ENSE00000724298 000 9 123725129 123725298 - 42 75 53 NA NA NA NA NA TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 NA NA NA NA NA NA TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT natural 42 37 0.984785670096576 0.979004355910805 0.981895013003691 5005 3918 0.878586696827631 0.945023087772231 0.911804892299931 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 0 0 0 0 0.981895013003691 0.911804892299931 0 0 0 FALSE FALSE NA NA NA NA NA C5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C5 NA NA NA ENSG00000106804 ENSE00000724298 NA NA NA NA NA NA NA 5.61068968015523e-11 FALSE NA ENSE00000724298_001 ENSE00000724298 001 9 123725129 123725298 - 42 75 53 T C 123725140 2212 159 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTGCTATTACTATT 120962850 120963020 120962861 120962862 120962862 downstr_intron 31 1.75609756097561 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTGCTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 481 432 1 1 1 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.121413303172369 0.054976912227769 0.981895013003691 0.911804892299931 NA 0.0881951077000688 NA FALSE NA 0 -0.348 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA GTA T,C 8.236e-06 9:120962862 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 intron_variant 2.003999 0.20372 0.07294 0.074636 0.847580546165499 0.232797 5.61068968015523e-11 FALSE 4.0626e-06 ENSE00000724298_004 ENSE00000724298 004 9 123725129 123725298 - 42 75 53 G A 123725179 2215 120 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAATTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962900 120962901 120962901 exon -9 0.893333333333333 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAATTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 81 272 1 1 1 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.121413303172369 0.054976912227769 0.981895013003691 0.911804892299931 NA 0.0881951077000688 NA FALSE NA 0.107 -0.009 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA AGT G,A 8.236e-06 9:120962901 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 synonymous_variant 0.947247 0.90092 0.09324 0.553676 0.693634469855328 0 5.61068968015523e-11 FALSE 4.0625e-06 ENSE00000724298_005 ENSE00000724298 005 9 123725129 123725298 - 42 75 53 T C 123725180 2216 119 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAGCTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962901 120962902 120962902 exon -10 0.88 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAGCTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 1706 1290 0.99722908425057 0.998781194541072 0.998005139395821 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.118642387422938 0.0537581067688412 0.981895013003691 0.911804892299931 NA 0.0862002470958896 NA FALSE NA 0.101 -0.355 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA GTT T,C 2.471e-05 9:120962902 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 synonymous_variant -0.18444 0.89278 0.04817 0.553676 0.472077483010555 0 5.61068968015523e-11 FALSE 1.21877e-05 ENSE00000724298_006 ENSE00000724298 006 9 123725129 123725298 - 42 75 53 A G 123725184 2217 115 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCCGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962905 120962906 120962906 exon -14 0.826666666666667 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCCGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 768 685 0.984656409960683 0.996188623201497 0.99042251658109 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.106069713133052 0.0511655354292663 0.981895013003691 0.911804892299931 NA 0.078617624281159 NA FALSE NA 0.998 3.315 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA CAG A,G 8.236e-06 9:120962906 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 missense_variant 6.178793 0.9726 0.90281 0.553676 0.998494911168612 0 5.61068968015523e-11 FALSE 4.0624e-06 ENSE00000724298_007 ENSE00000724298 007 9 123725129 123725298 - 42 75 53 T G 123725201 2218 98 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAACGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962922 120962923 120962923 exon -31 0.6 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAACGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 1145 1732 0.970815612551711 0.998042650584952 0.984429131568332 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.0922289157240795 0.0530195628127212 0.981895013003691 0.911804892299931 NA 0.0726242392684004 NA FALSE NA 1 1.344 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA CTT T,G 8.236e-06 9:120962923 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 missense_variant 2.713362 0.96785 0.81751 0.553676 0.99444784561952 0 5.61068968015523e-11 FALSE 8.12539e-06 ENSE00000724298_008 ENSE00000724298 008 9 123725129 123725298 - 42 75 53 T G 123725218 2219 81 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCCCTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962939 120962940 120962940 exon 28 0.373333333333333 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCCCTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 893 2597 0.942646981017049 0.999291397796598 0.970969189406824 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.0640602841894178 0.0542683100243673 0.981895013003691 0.911804892299931 NA 0.0591642971068925 NA FALSE NA 0.462 0.236 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA GTG T,G 1.647e-05 9:120962940 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 missense_variant 3.806188 0.50037 0.23173 0.638212 0.983182426242638 0 5.61068968015523e-11 FALSE 8.12744e-06 ENSE00000724298_010 ENSE00000724298 010 9 123725129 123725298 - 42 75 53 A T 123725241 2221 58 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGAGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962962 120962963 120962963 exon 5 0.0666666666666667 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGAGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 211 1042 1 0.985620555775018 0.992810277887509 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.121413303172369 0.0405974680027869 0.981895013003691 0.911804892299931 NA 0.0810053855875777 NA FALSE NA 1 4.432 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA CAC A,T 8.236e-06 9:120962963 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 missense_variant 1.671203 0.97352 0.8417 0.638212 0.969038133147655 0 5.61068968015523e-11 FALSE 4.06511e-06 ENSE00000724298_013 ENSE00000724298 013 9 123725129 123725298 - 42 75 53 G T 123725253 2224 46 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCACCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962974 120962975 120962975 upstr_intron -8 -0.132075471698113 TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCACCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 104 285 0.973105887641596 0.999444674470591 0.986275281056094 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.0945191908139645 0.0544215866983602 0.981895013003691 0.911804892299931 NA 0.0744703887561624 NA FALSE NA 0.023 2.164 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 rs375865204 1 NA A:0 A:0.0001 GGG G,T 1.647e-05 9:120962975 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 splice_region_variant -0.23126 0.21212 0.03794 0.053691 0.324907484516652 0.221102 5.61068968015523e-11 FALSE 8.13425e-06 ENSE00000724298_014 ENSE00000724298 014 9 123725129 123725298 - 42 75 53 G A 123725266 2225 33 TTAAACAAAAAGATAATGAAATGAAATTCAAGTTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962987 120962988 120962988 upstr_intron -21 -0.377358490566038 TTAAACAAAAAGATAATGAAATGAAATTCAAGTTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 83 114 1 1 1 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.121413303172369 0.054976912227769 0.981895013003691 0.911804892299931 NA 0.0881951077000688 NA FALSE NA 0 -0.158 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA AGC G,A 8.236e-06 9:120962988 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 intron_variant 0.008095 0.16768 0.02411 0.053691 0.194700889602586 0.151247 5.61068968015523e-11 FALSE 4.07043e-06 ENSE00000724298_016 ENSE00000724298 016 9 123725129 123725298 - 42 75 53 T C 123725273 2227 26 TTAAACAAAAAGATAATGAAATGAAGTTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120962994 120962995 120962995 upstr_intron -28 -0.509433962264151 TTAAACAAAAAGATAATGAAATGAAGTTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 759 90 1 0.926753834464993 0.963376917232496 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.121413303172369 -0.0182692533072384 0.981895013003691 0.911804892299931 NA 0.0515720249325651 NA FALSE NA 0.601 0.093 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA ATT T,C 8.237e-06 9:120962995 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 intron_variant 0.685962 0.26269 0.03252 0.053691 0.852667739079919 0.151247 5.61068968015523e-11 FALSE 4.07425e-06 ENSE00000724298_017 ENSE00000724298 017 9 123725129 123725298 - 42 75 53 T C 123725283 2228 16 TTAAACAAAAAGATAGTGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT 120962850 120963020 120963004 120963005 120963005 upstr_intron -38 -0.69811320754717 TTAAACAAAAAGATAGTGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT TTAAACAAAAAGATAATGAAATGAAATTCAAGCTTCTCTCTTTTCCCCCTTAGCTTGTGGAAGGGGTGGATCAACTATTCACTGATTACCAAATCAAAGATGGACATGTTATTCTGCAACTGAATTCGGTAAGCTCCACCTGCAACCATTTTTCCTTTACTATTACTATT mutant NA NA NA NA NA 518 778 0.999920526425412 1 0.999960263212706 0.984785670096576 0.979004355910805 0.878586696827631 0.945023087772231 NA NA 0.12133382959778 0.054976912227769 0.981895013003691 0.911804892299931 NA 0.0881553709127747 NA FALSE NA 0 -0.232 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000480188 1 NA ATT T,C 1.647e-05 9:120963005 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724298 intron_variant 0.838595 0.22009 0.05612 0.053691 0.809058348177372 0.151247 5.61068968015523e-11 FALSE 8.1626e-06 ENSE00000724308_000 ENSE00000724308 000 9 123734160 123734329 - 48 63 59 NA NA NA NA NA CCTCCCTCCCTATCAAATGATGAAAGAAAGCATGGTTTGTTTCTCTATTATCTTTCCAGGTGCTTCTCAATGATGACCTCATTGTCAGTACAGGATTTGGCAGTGGCTTGGCTACAGTACATGTAAGTATTTAATTGATATCCAATAACGAGTTATGTGTCCATTTGTAC 120971881 120972051 NA NA NA NA NA NA CCTCCCTCCCTATCAAATGATGAAAGAAAGCATGGTTTGTTTCTCTATTATCTTTCCAGGTGCTTCTCAATGATGACCTCATTGTCAGTACAGGATTTGGCAGTGGCTTGGCTACAGTACATGTAAGTATTTAATTGATATCCAATAACGAGTTATGTGTCCATTTGTAC CCTCCCTCCCTATCAAATGATGAAAGAAAGCATGGTTTGTTTCTCTATTATCTTTCCAGGTGCTTCTCAATGATGACCTCATTGTCAGTACAGGATTTGGCAGTGGCTTGGCTACAGTACATGTAAGTATTTAATTGATATCCAATAACGAGTTATGTGTCCATTTGTAC natural NA NA NA NA NA 138 729 1 0.827937320780639 0.91396866039032 NA NA 1 0.827937320780639 NA NA 0 0 NA 0.91396866039032 NA 0 NA FALSE NA NA NA NA NA NA C5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C5 NA NA NA ENSG00000106804 ENSE00000724308 NA NA NA NA NA NA NA 5.61068968015523e-11 FALSE NA ENSE00000724308_007 ENSE00000724308 007 9 123734160 123734329 - 48 63 59 A G 123734241 2235 89 CCTCCCTCCCTATCAAATGATGAAAGAAAGCATGGTTTGTTTCTCTATTATCTTTCCAGGTGCTTCTCAATGATGACCTCATTGTCAGCACAGGATTTGGCAGTGGCTTGGCTACAGTACATGTAAGTATTTAATTGATATCCAATAACGAGTTATGTGTCCATTTGTAC 120971881 120972051 120971962 120971963 120971963 exon 30 0.476190476190476 CCTCCCTCCCTATCAAATGATGAAAGAAAGCATGGTTTGTTTCTCTATTATCTTTCCAGGTGCTTCTCAATGATGACCTCATTGTCAGCACAGGATTTGGCAGTGGCTTGGCTACAGTACATGTAAGTATTTAATTGATATCCAATAACGAGTTATGTGTCCATTTGTAC CCTCCCTCCCTATCAAATGATGAAAGAAAGCATGGTTTGTTTCTCTATTATCTTTCCAGGTGCTTCTCAATGATGACCTCATTGTCAGTACAGGATTTGGCAGTGGCTTGGCTACAGTACATGTAAGTATTTAATTGATATCCAATAACGAGTTATGTGTCCATTTGTAC mutant NA NA NA NA NA 64 96 1 1 1 NA NA 1 0.827937320780639 NA NA 0 0.172062679219361 NA 0.91396866039032 NA 0.0860313396096804 NA FALSE NA 1 0.54 . synonymous_variant LOW C5 HGNC 1331 ENST00000223642 31/41 1 NA TAC A,G 8.236e-06 9:120971963 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724308 synonymous_variant 0.536504 0.89826 0.22396 0.554377 0.652124603179326 0 5.61068968015523e-11 FALSE 4.06719e-06 ENSE00000724315_000 ENSE00000724315 000 9 123744090 123744259 - 32 96 42 NA NA NA NA NA GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 NA NA NA NA NA NA GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT natural 47 60 0.973450637968838 0.995961713229819 0.984706175599328 4671 3884 0.987411157096244 0.884331645440531 0.935871401268387 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 0 0 0 0 0.984706175599328 0.935871401268387 0 0 0 FALSE FALSE NA NA NA NA NA C5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C5 NA NA NA ENSG00000106804 ENSE00000724315 NA NA NA NA NA NA NA 5.61068968015523e-11 FALSE NA ENSE00000724315_001 ENSE00000724315 001 9 123744090 123744259 - 32 96 42 G A 123744100 2254 160 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTTTCACACCCAT 120981811 120981981 120981821 120981822 120981822 downstr_intron 22 1.70967741935484 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTTTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 1070 122 0.997093661837274 1 0.998546830918637 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.00968250474102983 0.115668354559469 0.984706175599328 0.935871401268387 NA 0.0626754296502496 NA FALSE NA 0.299 1.358 . intron_variant&non_coding_transcript_variant MODIFIER C5 HGNC 1331 ENST00000489802 1/2 1 NA AGA G,A 1.647e-05 9:120981822 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 intron_variant 0.263747 0.13106 0.30071 0.053988 0.627644316574467 0.0712404 5.61068968015523e-11 FALSE 8.14644e-06 ENSE00000724315_002 ENSE00000724315 002 9 123744090 123744259 - 32 96 42 A T 123744103 2255 157 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTACTCTCACACCCAT 120981811 120981981 120981824 120981825 120981825 downstr_intron 19 1.61290322580645 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTACTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 480 156 1 1 1 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.0125888429037558 0.115668354559469 0.984706175599328 0.935871401268387 NA 0.0641285987316126 NA FALSE NA 0.811 0.955 . intron_variant&non_coding_transcript_variant MODIFIER C5 HGNC 1331 ENST00000489802 1/2 1 NA GAA A,T 8.236e-06 9:120981825 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 intron_variant -0.375916 0.2305 0.24153 0 0.743529577162071 0.0706678 5.61068968015523e-11 FALSE 4.07034e-06 ENSE00000724315_003 ENSE00000724315 003 9 123744090 123744259 - 32 96 42 G C 123744128 2256 132 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCGCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981849 120981850 120981850 exon -7 0.9375 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCGCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 173 1538 1 0.998137167231912 0.999068583615956 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.0125888429037558 0.113805521791381 0.984706175599328 0.935871401268387 NA 0.0631971823475686 NA FALSE NA 0 -1.473 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C5 HGNC 1331 ENST00000489802 1/3 1 NA GGG G,C 1.647e-05 9:120981850 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 synonymous_variant -0.408569 0.11838 0.05082 0.525926 0.591948576968449 0 5.61068968015523e-11 FALSE 2.84446e-05 ENSE00000724315_004 ENSE00000724315 004 9 123744090 123744259 - 32 96 42 C A 123744139 2257 121 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCTATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981860 120981861 120981861 exon -18 0.822916666666667 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCTATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 71 751 0.995268689072612 0.993597521469418 0.994433105271015 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.00785753197636807 0.109265876028888 0.984706175599328 0.935871401268387 NA 0.0585617040026279 NA FALSE NA 0.42 1.277 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C5 HGNC 1331 ENST00000489802 1/3 1 NA TCG C,A 8.236e-06 9:120981861 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 2.054858 0.17977 0.14371 0.525926 0.726660074962743 0 5.61068968015523e-11 FALSE 4.0627e-06 ENSE00000724315_006 ENSE00000724315 006 9 123744090 123744259 - 32 96 42 C T 123744145 2259 115 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGACTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981866 120981867 120981867 exon -24 0.760416666666667 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGACTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 117 204 1 1 1 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.0125888429037558 0.115668354559469 0.984706175599328 0.935871401268387 NA 0.0641285987316126 NA FALSE NA 0.998 0.717 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C5 HGNC 1331 ENST00000489802 1/3 rs200624729 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 GCC C,T 0.0003789 9:120981867 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 6.428899 0.84433 0.5516 0.533608 0.9986701054175 0 5.61068968015523e-11 FALSE 0.000292493 ENSE00000724315_007 ENSE00000724315 007 9 123744090 123744259 - 32 96 42 G A 123744174 2260 86 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTATAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981895 120981896 120981896 exon 44 0.458333333333333 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTATAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 714 145 0.957051508877804 0.931037030695192 0.944044269786498 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA -0.0303596482184402 0.0467053852546617 0.984706175599328 0.935871401268387 NA 0.00817286851811078 NA FALSE NA 1 6.355 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 1 NA TGT G,A 8.237e-06 9:120981896 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 6.393283 0.92351 0.85661 0.533608 0.999136457472521 0 5.61068968015523e-11 FALSE 4.06174e-06 ENSE00000724315_008 ENSE00000724315 008 9 123744090 123744259 - 32 96 42 A T 123744177 2261 83 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCATACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981898 120981899 120981899 exon 41 0.427083333333333 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCATACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 186 1371 0.999175105536878 0.999246983195426 0.999211044366152 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.0117639484406334 0.114915337754895 0.984706175599328 0.935871401268387 NA 0.0633396430977644 NA FALSE NA 1 6.016 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 1 NA AAG A,T 8.236e-06 9:120981899 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 6.083616 0.91363 0.8652 0.533608 0.983163260546571 0 5.61068968015523e-11 FALSE NA ENSE00000724315_010 ENSE00000724315 010 9 123744090 123744259 - 32 96 42 C T 123744195 2263 65 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCAAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981916 120981917 120981917 exon 23 0.239583333333333 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCAAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 1728 57 0.999809319499842 0.999329529784068 0.999569424641955 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.012398162403598 0.114997884343538 0.984706175599328 0.935871401268387 NA 0.0636980233735679 NA FALSE NA 0.058 -0.092 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 1 NA TCG C,T 0.000173 9:120981917 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 1.543467 0.28212 0.00658 0.533608 0.899497875153901 0 5.61068968015523e-11 FALSE 0.000211228 ENSE00000724315_011 ENSE00000724315 011 9 123744090 123744259 - 32 96 42 G C 123744196 2264 64 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCGGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981917 120981918 120981918 exon 22 0.229166666666667 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCGGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 274 395 0.998336042756173 1 0.999168021378087 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.0109248856599291 0.115668354559469 0.984706175599328 0.935871401268387 NA 0.0632966201096993 NA FALSE NA 0.055 0.261 rs184484615 upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 rs184484615 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGG G,C 3.295e-05 9:120981918 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 1.99853 0.36106 0.13721 0.533608 0.982196347172826 0 5.61068968015523e-11 FALSE 2.4375e-05 ENSE00000724315_012 ENSE00000724315 012 9 123744090 123744259 - 32 96 42 G C 123744198 2265 62 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGGCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981919 120981920 120981920 exon 20 0.208333333333333 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGGCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 2612 846 0.963849360130431 0.959202169218007 0.961525764674219 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA -0.0235617969658128 0.0748705237774768 0.984706175599328 0.935871401268387 NA 0.025654363405832 NA FALSE NA 0.997 2.46 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 1 NA GGC G,C 8.236e-06 9:120981920 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 4.398315 0.89298 0.80274 0.533608 0.990070351620899 0 5.61068968015523e-11 FALSE 4.06266e-06 ENSE00000724315_013 ENSE00000724315 013 9 123744090 123744259 - 32 96 42 C T 123744202 2266 58 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTAAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981923 120981924 120981924 exon 16 0.166666666666667 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTAAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 244 34 0.817035386900298 0.8 0.808517693450149 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA -0.170375770195946 -0.0843316454405305 0.984706175599328 0.935871401268387 NA -0.127353707818238 NA FALSE NA 0.999 4.713 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 1 NA TCA C,T 8.236e-06 9:120981924 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 4.435915 0.92148 0.89162 0.65861 0.998290573638979 0 5.61068968015523e-11 FALSE 8.12506e-06 ENSE00000724315_014 ENSE00000724315 014 9 123744090 123744259 - 32 96 42 A G 123744203 2267 57 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTCGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981924 120981925 120981925 exon 15 0.15625 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTCGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 201 360 1 1 1 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.0125888429037558 0.115668354559469 0.984706175599328 0.935871401268387 NA 0.0641285987316126 NA FALSE NA 0.018 0.111 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 rs571587641 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAA A,G 1.647e-05 9:120981925 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 synonymous_variant 0.765285 0.12724 0.07166 0.65861 0.707144291580907 0 5.61068968015523e-11 FALSE 1.62495e-05 ENSE00000724315_015 ENSE00000724315 015 9 123744090 123744259 - 32 96 42 C T 123744217 2268 43 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGAGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981938 120981939 120981939 exon 1 0.0104166666666667 GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGAGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 24 197 0.952508718424877 0.95 0.951254359212438 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA -0.0349024386713674 0.0656683545594694 0.984706175599328 0.935871401268387 NA 0.015382957944051 NA FALSE NA 1 4.713 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 1 NA CCC C,T 8.236e-06 9:120981939 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 missense_variant 7.179166 0.92265 0.89232 0.65861 0.998303671506255 0 5.61068968015523e-11 FALSE 4.06497e-06 ENSE00000724315_017 ENSE00000724315 017 9 123744090 123744259 - 32 96 42 G A 123744242 2270 18 GACACCATTTCACTCCCTTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 120981963 120981964 120981964 upstr_intron -25 -0.571428571428571 GACACCATTTCACTCCCTTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT mutant NA NA NA NA NA 564 623 0.998013067709532 0.827551896433835 0.912782482071683 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 NA NA 0.010601910613288 -0.0567797490066959 0.984706175599328 0.935871401268387 NA -0.023088919196704 NA FALSE NA 0 -0.929 . upstream_gene_variant MODIFIER C5 HGNC 1331 ENST00000489802 1 NA AGG G,A 0.0002224 9:120981964 C5 HGNC Symbol protein_coding 97941 ENSG00000106804 ENSE00000724315 intron_variant 0.31028 0.10932 0.01512 0.088285 0.733582213751517 0.100515 5.61068968015523e-11 FALSE 0.00019253 ENSE00000724315_BRK ENSE00000724315 BRK 9 123744090 123744259 - 32 96 42 A,G; T,T NA NA NA GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTTTGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGCCAAGTAAGAGTTTTCTTTCTCTCACACCCAT 120981811 120981981 NA NA NA NA NA NA GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTTTGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGCCAAGTAAGAGTTTTCTTTCTCTCACACCCAT GACACCATTTCACTCCCCTTTTAAAACATTGCTTCTTTTTAGGGTACCTTGCCTGTTGAAGCCCGAGAGAACAGCTTATATCTTACAGCCTTTACTGTGATTGGAATTAGAAAGGCTTTCGATATATGCCCCCTGGTGGTAAGTAAGAGTTTTCTTTCTCTCACACCCAT control 68 46 0 0 0 767 376 0.0167321846736351 0.00134583271199284 0.00903900869281397 0.973450637968838 0.995961713229819 0.987411157096244 0.884331645440531 -0.973450637968838 -0.995961713229819 -0.970678972422609 -0.882985812728538 0.984706175599328 0.935871401268387 -0.984706175599328 -0.926832392575573 0.0578737830237549 TRUE TRUE NA NA NA NA NA C5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C5 NA NA NA ENSG00000106804 ENSE00000724315 NA NA NA NA NA NA NA 5.61068968015523e-11 FALSE NA ENSE00000725077_000 ENSE00000725077 000 5 6604679 6604848 - 39 81 50 NA NA NA NA NA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 NA NA NA NA NA NA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA natural NA NA NA NA NA 936 989 0.953736284733102 0.998519299341744 0.976127792037423 NA NA 0.953736284733102 0.998519299341744 NA NA 0 0 NA 0.976127792037423 NA 0 NA FALSE NA NA NA NA NA NA NSUN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSUN2 NA NA NA ENSG00000037474 ENSE00003463693 NA NA NA NA NA NA NA 0.961845836118256 TRUE NA ENSE00000725077_002 ENSE00000725077 002 5 6604679 6604848 - 39 81 50 C T 6604692 157 157 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAACAGTAGCCACAGA 6604565 6604735 6604578 6604579 6604579 downstr_intron 26 1.68421052631579 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAACAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 19 1565 0.897998323843986 1 0.948999161921993 NA NA 0.953736284733102 0.998519299341744 NA NA -0.0557379608891162 0.0014807006582559 NA 0.976127792037423 NA -0.0271286301154302 NA FALSE NA 0 0.615 . intron_variant MODIFIER NSUN2 HGNC 25994 ENST00000539938 15/17 rs201668305 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 GCT C,T 0.00131 5:6604579 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 intron_variant 0.218727 0.18779 0.0857 0.256867 0.494544557341537 0.0857902 0.961845836118256 TRUE 0.00117483 ENSE00000725077_004 ENSE00000725077 004 5 6604679 6604848 - 39 81 50 G A 6604694 159 155 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAATAGCAGTAGCCACAGA 6604565 6604735 6604580 6604581 6604581 downstr_intron 24 1.63157894736842 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAATAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 20 239 1 1 1 NA NA 0.953736284733102 0.998519299341744 NA NA 0.0462637152668982 0.0014807006582559 NA 0.976127792037423 NA 0.0238722079625771 NA FALSE NA 0 -1.05 . intron_variant MODIFIER NSUN2 HGNC 25994 ENST00000539938 15/17 1 NA TGT G,A 8.236e-06 5:6604581 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 intron_variant 0.002306 0.11427 0.01695 0.256867 0.66128734702865 0.106874 0.961845836118256 TRUE 4.06355e-06 ENSE00000725077_012 ENSE00000725077 012 5 6604679 6604848 - 39 81 50 G A 6604732 167 117 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCTGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604618 6604619 6604619 exon -15 0.827160493827161 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCTGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 175 444 1 0.99729782569463 0.998648912847315 NA NA 0.953736284733102 0.998519299341744 NA NA 0.0462637152668982 -0.00122147364711389 NA 0.976127792037423 NA 0.0225211208098922 NA FALSE NA 1 5.704 . missense_variant MODERATE NSUN2 HGNC 25994 ENST00000539938 15/18 rs371887249&COSM1069456 1 probably_damaging(1) NA A:0.0002 A:0 CGG G,A 1.647e-05 5:6604619 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 missense_variant 8.228437 0.95473 0.91444 0.706548 0.999202960544349 0 0.961845836118256 TRUE 1.21825e-05 ENSE00000725077_013 ENSE00000725077 013 5 6604679 6604848 - 39 81 50 A G 6604741 168 108 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACCGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604627 6604628 6604628 exon -24 0.716049382716049 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACCGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 256 611 0.99204581229757 1 0.996022906148785 NA NA 0.953736284733102 0.998519299341744 NA NA 0.0383095275644679 0.0014807006582559 NA 0.976127792037423 NA 0.0198951141113619 NA FALSE NA 1 8.086 . missense_variant MODERATE NSUN2 HGNC 25994 ENST00000539938 15/18 1 probably_damaging(0.973) NA CAG A,G 8.236e-06 5:6604628 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 missense_variant 6.023403 0.96587 0.97746 0.706548 0.997655518715583 0 0.961845836118256 TRUE 8.12156e-06 ENSE00000725077_014 ENSE00000725077 014 5 6604679 6604848 - 39 81 50 C T 6604756 169 93 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCAGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604642 6604643 6604643 exon -39 0.530864197530864 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCAGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 127 505 1 0.991590218488738 0.995795109244369 NA NA 0.953736284733102 0.998519299341744 NA NA 0.0462637152668982 -0.00692908085300625 NA 0.976127792037423 NA 0.019667317206946 NA FALSE NA 0.997 4.06 . missense_variant MODERATE NSUN2 HGNC 25994 ENST00000539938 15/18 1 benign(0.02) NA CCG C,T 8.236e-05 5:6604643 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 missense_variant 4.020417 0.95906 0.9363 0.706548 0.998723290622383 0 0.961845836118256 TRUE 9.33995e-05 ENSE00000725077_015 ENSE00000725077 015 5 6604679 6604848 - 39 81 50 G A 6604757 170 92 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGTGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604643 6604644 6604644 exon -40 0.518518518518518 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGTGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 24 12 0.843227995986639 0.960404387519759 0.901816191753199 NA NA 0.953736284733102 0.998519299341744 NA NA -0.110508288746463 -0.0381149118219851 NA 0.976127792037423 NA -0.0743116002842241 NA FALSE NA 0.261 -0.317 rs146819725 synonymous_variant LOW NSUN2 HGNC 25994 ENST00000539938 15/18 rs146819725 1 NA A:0.0002 A:0.0002 CGC G,A 8.236e-05 5:6604644 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 missense_variant 1.76184 0.85056 0.20707 0.706548 0.750918967764355 0 0.961845836118256 TRUE 7.3097e-05 ENSE00000725077_017 ENSE00000725077 017 5 6604679 6604848 - 39 81 50 T C 6604764 172 85 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAGTAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604650 6604651 6604651 exon 35 0.432098765432099 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAGTAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 12 299 1 0.953391167110463 0.976695583555231 NA NA 0.953736284733102 0.998519299341744 NA NA 0.0462637152668982 -0.0451281322312815 NA 0.976127792037423 NA 0.000567791517808336 NA FALSE NA 1 4.739 . missense_variant MODERATE NSUN2 HGNC 25994 ENST00000539938 15/18 rs374373224 1 benign(0.008) NA C:0 C:0.0001 ATT T,C 8.236e-06 5:6604651 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 missense_variant 0.998191 0.94947 0.92824 0.706548 0.96461599753567 0 0.961845836118256 TRUE 1.21823e-05 ENSE00000725077_018 ENSE00000725077 018 5 6604679 6604848 - 39 81 50 C T 6604767 173 82 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAAAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604653 6604654 6604654 exon 32 0.395061728395062 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAAAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 13 29 1 1 1 NA NA 0.953736284733102 0.998519299341744 NA NA 0.0462637152668982 0.0014807006582559 NA 0.976127792037423 NA 0.0238722079625771 NA FALSE NA 1 6.766 . missense_variant MODERATE NSUN2 HGNC 25994 ENST00000539938 15/18 rs561528679 1 probably_damaging(0.998) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C,T 1.647e-05 5:6604654 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 missense_variant 7.179943 0.97197 0.96877 0.706548 0.997455032866071 0 0.961845836118256 TRUE 1.6243e-05 ENSE00000725077_019 ENSE00000725077 019 5 6604679 6604848 - 39 81 50 C T 6604787 174 62 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACAGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604673 6604674 6604674 exon 12 0.148148148148148 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACAGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 297 751 0.993223280279864 0.994549543720436 0.99388641200015 NA NA 0.953736284733102 0.998519299341744 NA NA 0.0394869955467618 -0.00396975562130797 NA 0.976127792037423 NA 0.0177586199627269 NA FALSE NA 0 -7.146 rs13181449 synonymous_variant LOW NSUN2 HGNC 25994 ENST00000539938 15/18 rs13181449&COSM4159937 1 T:0.2220 T:0.0371 T:0.1427 NA T:0.4623 T:0.1899 T:0.3139 T:0.0579 T:0.2038 CCG C,T 0.215 5:6604674 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 missense_variant 1.629282 0.07856 0.02954 0.706548 0.871631811731422 0 0.961845836118256 TRUE 0.214178 ENSE00000725077_020 ENSE00000725077 020 5 6604679 6604848 - 39 81 50 C T 6604798 175 51 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGATTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604684 6604685 6604685 exon 1 0.0123456790123457 ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGATTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 397 453 0.990560049477043 1 0.995280024738521 NA NA 0.953736284733102 0.998519299341744 NA NA 0.036823764743941 0.0014807006582559 NA 0.976127792037423 NA 0.0191522327010984 NA FALSE NA 1 6.613 . missense_variant&splice_region_variant MODERATE NSUN2 HGNC 25994 ENST00000539938 15/18 1 possibly_damaging(0.574) NA ACC C,T 2.471e-05 5:6604685 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 missense_variant 4.537999 0.96938 0.98423 0.706548 0.997227609608495 0 0.961845836118256 TRUE 2.43704e-05 ENSE00000725077_022 ENSE00000725077 022 5 6604679 6604848 - 39 81 50 A G 6604829 177 20 ATGGTCCTGTCTTCATCTCCCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 6604715 6604716 6604716 upstr_intron -31 -0.6 ATGGTCCTGTCTTCATCTCCCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA mutant NA NA NA NA NA 25 38 0.810315393177212 1 0.905157696588606 NA NA 0.953736284733102 0.998519299341744 NA NA -0.14342089155589 0.0014807006582559 NA 0.976127792037423 NA -0.0709700954488171 NA FALSE NA 0 -0.086 . intron_variant MODIFIER NSUN2 HGNC 25994 ENST00000539938 14/17 1 NA GAG A,G 8.237e-06 5:6604716 NSUN2 HGNC Symbol protein_coding 34052 ENSG00000037474 ENSE00003463693 non_coding_transcript_exon_variant 0.085064 0.18893 0.08454 0.256867 0.617094976306751 0.0689526 0.961845836118256 TRUE 4.07295e-06 ENSE00000725077_BRK ENSE00000725077 BRK 5 6604679 6604848 - 39 81 50 A,G; T,T NA NA NA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACTTGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGCCAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA 6604565 6604735 NA NA NA NA NA NA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACTTGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGCCAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA ATGGTCCTGTCTTCATCTCTCTGTGTTTCATCTTATTTTTTTACTTACAGGTTATTAACACGGGGATCAAAGTCTGGTGTAGAAATAACAGCGGTGAAGAGTTTGACTGTGCTTTCCGGCTGGCACAGGAGGTAATTTTGGAAGTGGATTTGAACAGCAGTAGCCACAGA control 41 17 0 0 0 NA NA NA NA NA NA NA 0.953736284733102 0.998519299341744 NA NA NA NA NA 0.976127792037423 NA NA NA NA NA NA NA NA NA NA NSUN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSUN2 NA NA NA ENSG00000037474 ENSE00003463693 NA NA NA NA NA NA NA 0.961845836118256 TRUE NA ENSE00000725380_000 ENSE00000725380 000 17 40491300 40491469 - 32 96 42 NA NA NA NA NA GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 NA NA NA NA NA NA ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC natural 54 181 0.888820762431371 0.841872576297354 0.865346669364363 769 2868 0.996148862286073 0.980628022126076 0.988388442206075 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 0 0 0 0 0.865346669364363 0.988388442206075 0 0 0 FALSE FALSE NA NA NA NA NA STAT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT3 NA NA NA ENSG00000168610 ENSE00000725380 NA NA NA NA NA NA NA 0.999989193151158 TRUE NA ENSE00000725380_001 ENSE00000725380 001 17 40491300 40491469 - 32 96 42 C T 40491310 1859 160 GCTCCCTGCCTGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339291 42339292 42339292 downstr_intron 22 1.70967741935484 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCAGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant 11 40 0.85 0.85 0.85 35 276 0.951725077206652 0.927803198264142 0.939764137735397 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 -0.0388207624313713 0.00812742370264563 -0.0444237850794218 -0.0528248238619339 0.865346669364363 0.988388442206075 -0.0153466693643629 -0.0486243044706778 0.033277635106315 FALSE FALSE 0.002 0.039 . intron_variant MODIFIER STAT3 HGNC 11364 ENST00000588969 5/23 rs534511653 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 CCG C,T 0.0001565 17:42339292 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 intron_variant -0.286418 0.09266 0.00361 0.139865 0.385681862372781 0.049018 0.999989193151158 TRUE 0.000134467 ENSE00000725380_003 ENSE00000725380 003 17 40491300 40491469 - 32 96 42 T G 40491324 1861 146 GCTCCCTGCCCGAGGCTTGTAACTGGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339305 42339306 42339306 downstr_intron 8 1.25806451612903 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCCAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant 13 32 0.760799301302958 0.85 0.805399650651479 140 288 0.984979094673211 0.983362840923137 0.984170967798174 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 -0.128021461128413 0.00812742370264563 -0.0111697676128619 0.00273481879706094 0.865346669364363 0.988388442206075 -0.0599470187128836 -0.00421747440790049 0.0557295443049831 FALSE FALSE 0.008 0.62 . splice_region_variant&intron_variant LOW STAT3 HGNC 11364 ENST00000588969 5/23 1 NA TTG T,G 8.236e-06 17:42339306 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 splice_region_variant -0.343649 0.14016 0.02349 0.139865 0.419301376121473 0.049018 0.999989193151158 TRUE 4.06788e-06 ENSE00000725380_005 ENSE00000725380 005 17 40491300 40491469 - 32 96 42 C T 40491365 1863 105 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGTTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339346 42339347 42339347 exon -34 0.65625 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAACAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant NA NA NA NA NA 730 57 0.9953422368833 1 0.99767111844165 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 NA NA -0.000806625402773098 0.0193719778739242 0.865346669364363 0.988388442206075 NA 0.00928267623557555 NA FALSE NA 0.997 0.706 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 5/24 1 NA GCT C,T 2.471e-05 17:42339347 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 synonymous_variant 1.962315 0.97101 0.81894 0.722319 0.537269375308352 0 0.999989193151158 TRUE 2.43724e-05 ENSE00000725380_006 ENSE00000725380 006 17 40491300 40491469 - 32 96 42 G A 40491370 1864 100 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAACATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339351 42339352 42339352 exon -39 0.604166666666667 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGTTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant 15 11 0.997109377197243 0.983745902693843 0.990427639945543 NA NA NA NA NA 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 0.108288614765872 0.141873326396489 NA NA 0.865346669364363 0.988388442206075 0.12508097058118 NA NA NA FALSE 1 5.115 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 5/24 1 NA AGC G,A 8.236e-06 17:42339352 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 synonymous_variant 1.36566 0.98212 0.97607 0.722319 0.691026039301559 0 0.999989193151158 TRUE 4.06171e-06 ENSE00000725380_008 ENSE00000725380 008 17 40491300 40491469 - 32 96 42 C T 40491374 1866 96 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATTTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339355 42339356 42339356 exon -43 0.5625 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAAATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant NA NA NA NA NA 292 821 0.932842407544488 0.891281828164636 0.912062117854562 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 NA NA -0.0633064547415854 -0.0893461939614394 0.865346669364363 0.988388442206075 NA -0.0763263243515124 NA FALSE NA 1 1.632 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 5/24 1 NA TCT C,T 8.236e-06 17:42339356 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 synonymous_variant 1.554461 0.98863 0.96296 0.722319 0.783565343034818 0 0.999989193151158 TRUE 1.21847e-05 ENSE00000725380_009 ENSE00000725380 009 17 40491300 40491469 - 32 96 42 C T 40491380 1867 90 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGTTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339361 42339362 42339362 exon 48 0.5 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAACAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant NA NA NA NA NA 596 273 0.921853619960406 0.951104516749425 0.936479068354915 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 NA NA -0.0742952423256678 -0.0295235053766508 0.865346669364363 0.988388442206075 NA -0.0519093738511593 NA FALSE NA 1 1.451 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 5/24 1 NA GCT C,T 3.295e-05 17:42339362 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 synonymous_variant 2.042287 0.98548 0.96146 0.722319 0.646481920701011 0 0.999989193151158 TRUE 2.03069e-05 ENSE00000725380_010 ENSE00000725380 010 17 40491300 40491469 - 32 96 42 C T 40491386 1868 84 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCTGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339367 42339368 42339368 exon 42 0.4375 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACAGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant NA NA NA NA NA 53 125 0.805059291945828 0.806031820093488 0.805545556019658 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 NA NA -0.191089570340246 -0.174596202032588 0.865346669364363 0.988388442206075 NA -0.182842886186417 NA FALSE NA 0 -3.353 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 5/24 1 NA CCG C,T 1.647e-05 17:42339368 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 synonymous_variant 1.93 0.23895 0.03317 0.722319 0.530063172242021 0 0.999989193151158 TRUE 2.0307e-05 ENSE00000725380_011 ENSE00000725380 011 17 40491300 40491469 - 32 96 42 G A 40491395 1869 75 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACAGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339376 42339377 42339377 exon 33 0.34375 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCTGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant 14 34 0.85 0.85 0.85 190 84 0.900285356646671 0.960404387519759 0.930344872083215 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 -0.0388207624313713 0.00812742370264563 -0.0958635056394028 -0.0202236346063168 0.865346669364363 0.988388442206075 -0.0153466693643629 -0.0580435701228598 0.042696900758497 FALSE FALSE 0 -2.326 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 5/24 rs201846078 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 A:0 A:0.0002 CGG G,A 0.00014 17:42339377 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 synonymous_variant 0.948752 0.17739 0.03975 0.722319 0.470744011656445 0 0.999989193151158 TRUE 0.000134026 ENSE00000725380_012 ENSE00000725380 012 17 40491300 40491469 - 32 96 42 G A 40491419 1870 51 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGACCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339400 42339401 42339401 exon 9 0.09375 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGTCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant 242 181 0.84773169099547 0.85 0.848865845497735 1422 68 0.848583820918655 0.928372680412261 0.888478250665458 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 -0.0410890714359011 0.00812742370264563 -0.147565041367418 -0.0522553417138146 0.865346669364363 0.988388442206075 -0.0164808238666277 -0.0999101915406164 0.0834293676739887 FALSE FALSE 0.999 0.459 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 5/24 1 NA GGC G,A 8.236e-06 17:42339401 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 synonymous_variant 1.525836 0.96719 0.89847 0.722319 0.648229657093315 0 0.999989193151158 TRUE 1.62472e-05 ENSE00000725380_013 ENSE00000725380 013 17 40491300 40491469 - 32 96 42 T C 40491425 1871 45 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCCTGCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339406 42339407 42339407 exon 3 0.03125 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAGGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant NA NA NA NA NA 1016 89 0.954840727753212 0.965968779445191 0.960404753599202 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 NA NA -0.041308134532861 -0.0146592426808847 0.865346669364363 0.988388442206075 NA -0.0279836886068728 NA FALSE NA 1 4.486 . splice_region_variant&synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 5/24 1 NA CTT T,C 8.236e-06 17:42339407 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 splice_region_variant 1.777112 0.98263 0.90786 0.722319 0.899639110342464 0 0.999989193151158 TRUE 1.21857e-05 ENSE00000725380_014 ENSE00000725380 014 17 40491300 40491469 - 32 96 42 G C 40491427 1872 43 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTCCTGCCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339408 42339409 42339409 exon 1 0.0104166666666667 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGGAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant NA NA NA NA NA 119 301 1 0.930183796625165 0.965091898312583 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 NA NA 0.00385113771392664 -0.0504442255009107 0.865346669364363 0.988388442206075 NA -0.023296543893492 NA FALSE NA 1 9.122 . missense_variant&splice_region_variant MODERATE STAT3 HGNC 11364 ENST00000588969 5/24 rs574370336 1 tolerated(0.35) benign(0.015) C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 TGC G,C 0.0003871 17:42339409 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 missense_variant 1.818367 0.99646 0.9989 0.722319 0.977269334067333 0 0.999989193151158 TRUE 0.000373683 ENSE00000725380_015 ENSE00000725380 015 17 40491300 40491469 - 32 96 42 C G 40491431 1873 39 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGGCAAAAAGGAGGTCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339412 42339413 42339413 upstr_intron -4 -0.0714285714285714 ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGCCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant NA NA NA NA NA 986 295 0.936261386753685 0.969396646039905 0.952829016396795 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 NA NA -0.0598874755323885 -0.0112313760861705 0.865346669364363 0.988388442206075 NA -0.0355594258092795 NA FALSE NA 0.641 1.121 . splice_region_variant&intron_variant LOW STAT3 HGNC 11364 ENST00000588969 4/23 rs376611360 1 NA G:0.0005 G:0 GCC C,G 4.118e-05 17:42339413 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 splice_region_variant 2.052913 0.97631 0.93404 0.099367 0.85156769150477 0.855032 0.999989193151158 TRUE 3.24976e-05 ENSE00000725380_017 ENSE00000725380 017 17 40491300 40491469 - 32 96 42 T C 40491443 1875 27 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGCCAATGCACATGTGAACACAGAACTAT 42339281 42339451 42339424 42339425 42339425 upstr_intron -16 -0.357142857142857 ATAGTTCTGTGTTCACATGTGCATTGGCCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant 29 68 0.85 0.85 0.85 NA NA NA NA NA 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 -0.0388207624313713 0.00812742370264563 NA NA 0.865346669364363 0.988388442206075 -0.0153466693643629 NA NA NA FALSE 0 -1.233 . intron_variant MODIFIER STAT3 HGNC 11364 ENST00000588969 4/23 1 NA GTC T,C 8.236e-06 17:42339425 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 intron_variant 0.002161 0.15193 0.04879 0.062308 0.354031572815805 0.0650704 0.999989193151158 TRUE 4.06296e-06 ENSE00000725380_018 ENSE00000725380 018 17 40491300 40491469 - 32 96 42 A T 40491452 1876 18 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACTTGTGAACACAGAACTAT 42339281 42339451 42339433 42339434 42339434 upstr_intron -25 -0.571428571428571 ATAGTTCTGTGTTCACAAGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant 100 239 0.85 0.85 0.85 795 609 0.958467115197575 0.921162306356474 0.939814710777024 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 -0.0388207624313713 0.00812742370264563 -0.0376817470884987 -0.0594657157696021 0.865346669364363 0.988388442206075 -0.0153466693643629 -0.0485737314290504 0.0332270620646876 FALSE FALSE 0 0.004 . intron_variant MODIFIER STAT3 HGNC 11364 ENST00000588969 4/23 rs367638843 1 NA T:0 T:0.0003 CAT A,T 3.295e-05 17:42339434 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 intron_variant 0.084542 0.34449 0.14582 0.062308 0.73717130561989 0.0865748 0.999989193151158 TRUE 1.62573e-05 ENSE00000725380_019 ENSE00000725380 019 17 40491300 40491469 - 32 96 42 T C 40491453 1877 17 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACACGTGAACACAGAACTAT 42339281 42339451 42339434 42339435 42339435 upstr_intron -26 -0.595238095238095 ATAGTTCTGTGTTCACGTGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant NA NA NA NA NA 556 704 0.981631755144119 0.981069491850258 0.981350623497188 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 NA NA -0.0145171071419544 0.00044146972418202 0.865346669364363 0.988388442206075 NA -0.0070378187088862 NA FALSE NA 0 -2.852 . intron_variant MODIFIER STAT3 HGNC 11364 ENST00000588969 4/23 1 NA ATG T,C 1.647e-05 17:42339435 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 intron_variant 0.088925 0.20877 0.05228 0.062308 0.50738205018167 0.0497834 0.999989193151158 TRUE 1.2193e-05 ENSE00000725380_020 ENSE00000725380 020 17 40491300 40491469 - 32 96 42 G A 40491454 1878 16 GCTCCCTGCCCGAGGCTTGTAACTTGCATCACCTGCACTCTCTTCCGGACATCCTGAAGGTGCTGCTCCAGCATCTGCTGCTTCTCCGTCACCACGGCTGCTGTGGGGTGGTTGGCCTGGCCCCCTTGCTGCCAAAAAGGAGGTCAATGCACATATGAACACAGAACTAT 42339281 42339451 42339435 42339436 42339436 upstr_intron -27 -0.619047619047619 ATAGTTCTGTGTTCATATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC ATAGTTCTGTGTTCACATGTGCATTGACCTCCTTTTTGGCAGCAAGGGGGCCAGGCCAACCACCCCACAGCAGCCGTGGTGACGGAGAAGCAGCAGATGCTGGAGCAGCACCTTCAGGATGTCCGGAAGAGAGTGCAGGTGATGCAAGTTACAAGCCTCGGGCAGGGAGC mutant 20 49 0.85 0.85 0.85 665 94 0.983368438460246 0.966959629042948 0.975164033751597 0.888820762431371 0.841872576297354 0.996148862286073 0.980628022126076 -0.0388207624313713 0.00812742370264552 -0.012780423825827 -0.0136683930831282 0.865346669364363 0.988388442206075 -0.0153466693643629 -0.0132244084544776 0.00212226090988532 FALSE FALSE 0.001 -0.569 . intron_variant MODIFIER STAT3 HGNC 11364 ENST00000588969 4/23 1 NA TGT G,A 8.236e-06 17:42339436 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00000725380 intron_variant 0.255934 0.17627 0.0227 0.062308 0.648864971096703 0.0858996 0.999989193151158 TRUE 4.06481e-06 ENSE00000726280_000 ENSE00000726280 000 17 40729196 40729365 - 35 90 45 NA NA NA NA NA TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 NA NA NA NA NA NA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA natural 97 82 0.943682590306183 0.946140714938957 0.94491165262257 738 986 0.988073805244968 0.902321318192002 0.945197561718485 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 0 0 0 0 0.94491165262257 0.945197561718485 0 0 0 FALSE FALSE NA NA NA NA NA PSMC3IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMC3IP NA NA NA ENSG00000131470 ENSE00003651599 NA NA NA NA NA NA NA 0.00019254510299238 FALSE NA ENSE00000726280_001 ENSE00000726280 001 17 40729196 40729365 - 35 90 45 C A 40729208 1919 158 TCTCATGGGTGAAAATCGGCGCAAGTTCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577189 42577190 42577190 downstr_intron 23 1.67647058823529 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTTTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 220 102 1 1 1 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.0119261947550315 0.0976786818079981 0.94491165262257 0.945197561718485 NA 0.0548024382815148 NA FALSE NA 0 -0.239 . intron_variant MODIFIER PSMC3IP HGNC 17928 ENST00000253789 3/7 1 NA ACA C,A 8.236e-06 17:42577190 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 missense_variant 0.328551 0.18434 0.01898 0.493124 0.633911150808032 0 0.00019254510299238 FALSE 1.2187e-05 ENSE00000726280_003 ENSE00000726280 003 17 40729196 40729365 - 35 90 45 C A 40729215 1921 151 TCTCATGGGTGACAATCGGAGCAAGTTCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577196 42577197 42577197 downstr_intron 16 1.47058823529412 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCTCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 201 823 0.926205097965455 0.987092410781085 0.95664875437327 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA -0.0618687072795133 0.0847710925890834 0.94491165262257 0.945197561718485 NA 0.0114511926547851 NA FALSE NA 0.006 0.054 . intron_variant MODIFIER PSMC3IP HGNC 17928 ENST00000253789 3/7 1 NA GCG C,A 8.236e-06 17:42577197 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 missense_variant 0.606339 0.22768 0.05602 0.493124 0.729324942839018 0 0.00019254510299238 FALSE 4.06167e-06 ENSE00000726280_004 ENSE00000726280 004 17 40729196 40729365 - 35 90 45 G C 40729216 1922 150 TCTCATGGGTGACAATCGGCCCAAGTTCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577197 42577198 42577198 downstr_intron 15 1.44117647058824 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGGGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 361 609 1 0.852412193740003 0.926206096870002 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.0119261947550315 -0.0499091244519986 0.94491165262257 0.945197561718485 NA -0.0189914648484835 NA FALSE NA 0.002 0.05 . intron_variant MODIFIER PSMC3IP HGNC 17928 ENST00000253789 3/7 1 NA CGC G,C 2.471e-05 17:42577198 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 missense_variant 0.232904 0.16798 0.06388 0.493124 0.689877944622274 0 0.00019254510299238 FALSE 1.62476e-05 ENSE00000726280_005 ENSE00000726280 005 17 40729196 40729365 - 35 90 45 T G 40729222 1923 144 TCTCATGGGTGACAATCGGCGCAAGTGCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577203 42577204 42577204 downstr_intron 9 1.26470588235294 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGCACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 248 38 0.999833941001497 1 0.999916970500749 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.0117601357565288 0.0976786818079981 0.94491165262257 0.945197561718485 NA 0.0547194087822634 NA FALSE NA 0.001 0.895 . intron_variant MODIFIER PSMC3IP HGNC 17928 ENST00000253789 3/7 1 NA TTC T,G 8.236e-06 17:42577204 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 missense_variant 2.350887 0.12437 0.04122 0.493124 0.747021449302859 0 0.00019254510299238 FALSE 4.06118e-06 ENSE00000726280_009 ENSE00000726280 009 17 40729196 40729365 - 35 90 45 C A 40729237 1927 129 TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCAGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577218 42577219 42577219 exon -7 0.933333333333333 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCTGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant 10 10 1 0.906776443808108 0.953388221904054 29 19 1 1 1 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 0.0563174096938166 -0.0393642711308493 0.0119261947550315 0.0976786818079981 0.94491165262257 0.945197561718485 0.00847656928148366 0.0548024382815148 0.0463258690000312 FALSE FALSE 0 -4.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:42577219 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 synonymous_variant 2.860788 0.10346 0.016 0.627647 0.906259423342388 0 0.00019254510299238 FALSE 4.06134e-06 ENSE00000726280_010 ENSE00000726280 010 17 40729196 40729365 - 35 90 45 C G 40729237 1928 129 TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCGGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577218 42577219 42577219 exon -7 0.933333333333333 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCCGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 99 622 0.998448482184189 1 0.999224241092095 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.010374676939221 0.0976786818079981 0.94491165262257 0.945197561718485 NA 0.0540266793736096 NA FALSE NA 0 -4.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMC3IP NA NA NA ENSG00000131470 ENSE00003651599 synonymous_variant 2.101459 0.11096 0.01909 0.627647 0.86673855087531 0 0.00019254510299238 FALSE 4.06134e-06 ENSE00000726280_012 ENSE00000726280 012 17 40729196 40729365 - 35 90 45 G T 40729238 1930 128 TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCCTCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577219 42577220 42577220 exon -8 0.922222222222222 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGAGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 93 614 1 0.999937994364515 0.999968997182257 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.0119261947550315 0.0976166761725127 0.94491165262257 0.945197561718485 NA 0.0547714354637721 NA FALSE NA 1 7.61 NA NA NA PSMC3IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:42577220 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 missense_variant 7.53381 0.96235 0.92011 0.627647 0.994794369750241 0 0.00019254510299238 FALSE 4.06184e-06 ENSE00000726280_015 ENSE00000726280 015 17 40729196 40729365 - 35 90 45 T A 40729250 1933 116 TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCCGCAAAATAGATCATCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577231 42577232 42577232 exon -20 0.788888888888889 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGATGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 45 295 1 0.990086471278174 0.995043235639087 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.0119261947550315 0.0877651530861723 0.94491165262257 0.945197561718485 NA 0.0498456739206019 NA FALSE NA 1 7.697 . missense_variant MODERATE PSMC3IP HGNC 17928 ENST00000253789 3/8 1 deleterious(0) probably_damaging(0.998) NA CTT T,A 8.236e-06 17:42577232 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 missense_variant 7.068397 0.95135 0.90765 0.627647 0.995576541995168 0 0.00019254510299238 FALSE 4.06095e-06 ENSE00000726280_018 ENSE00000726280 018 17 40729196 40729365 - 35 90 45 C T 40729264 1936 102 TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTATATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577245 42577246 42577246 exon -34 0.633333333333333 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATATACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 70 128 1 0.998762417713096 0.999381208856548 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.0119261947550315 0.0964410995210944 0.94491165262257 0.945197561718485 NA 0.054183647138063 NA FALSE NA 0 -0.477 . missense_variant MODERATE PSMC3IP HGNC 17928 ENST00000253789 3/8 1 tolerated(0.22) benign(0.001) NA ACA C,T 2.471e-05 17:42577246 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 start_lost 0.810762 0.16076 0.03897 0.627647 0.916445751574529 0 0.00019254510299238 FALSE 4.06101e-06 ENSE00000726280_020 ENSE00000726280 020 17 40729196 40729365 - 35 90 45 T C 40729271 1938 95 TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTACATCTTCCCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577252 42577253 42577253 exon -41 0.555555555555556 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGGGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 615 44 0.999933064889197 1 0.999966532444599 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.011859259644229 0.0976786818079981 0.94491165262257 0.945197561718485 NA 0.0547689707261135 NA FALSE NA 1 7.697 . missense_variant MODERATE PSMC3IP HGNC 17928 ENST00000253789 3/8 1 deleterious(0) probably_damaging(0.995) NA CTC T,C 8.236e-06 17:42577253 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 missense_variant 6.616632 0.94962 0.90137 0.627647 0.999122918068735 0 0.00019254510299238 FALSE 4.06091e-06 ENSE00000726280_022 ENSE00000726280 022 17 40729196 40729365 - 35 90 45 C T 40729320 1940 46 TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCATCTGGCAGAGGAGAGAGAAGGAGCAATCAGAGGAGTCTGAGCCTGG 42577177 42577347 42577301 42577302 42577302 exon 1 0.0111111111111111 CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGATGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 51 18 1 1 1 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.0119261947550315 0.0976786818079981 0.94491165262257 0.945197561718485 NA 0.0548024382815148 NA FALSE NA 1 4.648 . missense_variant&splice_region_variant MODERATE PSMC3IP HGNC 17928 ENST00000253789 3/8 1 deleterious(0) benign(0.21) NA ACC C,T 1.647e-05 17:42577302 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 missense_variant 4.837161 0.88934 0.90483 0.542737 0.997268384164387 0 0.00019254510299238 FALSE 1.21836e-05 ENSE00000726280_028 ENSE00000726280 028 17 40729196 40729365 - 35 90 45 G A 40729351 1946 15 TCTCATGGGTGACAATCGGCGCAAGTTCTCCTCACCTGATCCGCAAAATAGATCTTCTGCTTGCCGTACATCTTCTCTTTGATCTTGCCTTGTTGCGCCAGCTGCTCCAGCGTCTTCACCACCACCTGGCAGAGGAGAGAGAAGGAGCAATCAGAAGAGTCTGAGCCTGG 42577177 42577347 42577332 42577333 42577333 upstr_intron -31 -0.666666666666667 CCAGGCTCAGACTCTTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA CCAGGCTCAGACTCCTCTGATTGCTCCTTCTCTCTCCTCTGCCAGGTGGTGGTGAAGACGCTGGAGCAGCTGGCGCAACAAGGCAAGATCAAAGAGAAGATGTACGGCAAGCAGAAGATCTATTTTGCGGATCAGGTGAGGAGAACTTGCGCCGATTGTCACCCATGAGA mutant NA NA NA NA NA 343 200 0.990481859608611 1 0.995240929804305 0.943682590306183 0.946140714938957 0.988073805244968 0.902321318192002 NA NA 0.00240805436364244 0.0976786818079981 0.94491165262257 0.945197561718485 NA 0.0500433680858203 NA FALSE NA 0 0.123 NA NA NA PSMC3IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:42577333 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003651599 intron_variant 1.784793 0.09792 0.07337 0.07321 0.901816918705956 0.133939 0.00019254510299238 FALSE 8.13544e-06 ENSE00000726404_000 ENSE00000726404 000 2 24985511 24985680 + 45 90 35 NA NA NA NA NA TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGTTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGATAAATACAAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 NA NA NA NA NA NA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA natural NA NA NA NA NA 1993 1649 0.958137282573477 0.791642353857976 0.874889818215726 NA NA 0.958137282573477 0.791642353857976 NA NA 0 0 NA 0.874889818215726 NA 0 NA FALSE NA NA NA NA NA NA NCOA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA1 NA NA NA ENSG00000084676 ENSE00000726404 NA NA NA NA NA NA NA 0.999077342831501 TRUE NA ENSE00000726404_001 ENSE00000726404 001 2 24985511 24985680 + 45 90 35 T C 24985525 311 15 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGTTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGATAAATACAAGATCAAATTACGAGCTAGTTGTTTAA 24762641 24762811 24762655 24762656 24762656 upstr_intron -31 -0.666666666666667 TTAAACAACTAGCTCGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 92 87 0.903362105975721 0.918015158554902 0.910688632265311 NA NA 0.958137282573477 0.791642353857976 NA NA -0.0547751765977565 0.126372804696926 NA 0.874889818215726 NA 0.0357988140495849 NA FALSE NA 0 -0.566 . intron_variant MODIFIER NCOA1 HGNC 7668 ENST00000348332 19/20 1 NA TTG T,C 8.236e-06 2:24762656 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 intron_variant 0.048893 0.24509 0.06865 0.156188 0.620487887720961 0.149414 0.999077342831501 TRUE 4.16282e-06 ENSE00000726404_004 ENSE00000726404 004 2 24985511 24985680 + 45 90 35 T C 24985538 314 28 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGTTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGATAAATACGAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 24762668 24762669 24762669 upstr_intron -18 -0.377777777777778 TTAAACAACTAGCTTGTAATTTGATCTCGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 235 64 0.90691302212533 0.95 0.928456511062665 NA NA 0.958137282573477 0.791642353857976 NA NA -0.0512242604481473 0.158357646142024 NA 0.874889818215726 NA 0.0535666928469385 NA FALSE NA 0 0.311 . intron_variant MODIFIER NCOA1 HGNC 7668 ENST00000348332 19/20 rs371983291 1 NA C:0.0002 C:0 TTG T,C 8.236e-06 2:24762669 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 intron_variant -0.226176 0.20079 0.10088 0.156188 0.605811954767106 0.0813097 0.999077342831501 TRUE 4.1114e-06 ENSE00000726404_005 ENSE00000726404 005 2 24985511 24985680 + 45 90 35 A T 24985545 315 35 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGTTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGAAAAATACAAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 24762675 24762676 24762676 upstr_intron -11 -0.222222222222222 TTAAACAACTAGCTTGTAATTTGATCTTGTATTTTTCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 1293 17 1 1 1 NA NA 0.958137282573477 0.791642353857976 NA NA 0.0418627174265229 0.208357646142024 NA 0.874889818215726 NA 0.125110181784274 NA FALSE NA 0.018 0.111 . intron_variant MODIFIER NCOA1 HGNC 7668 ENST00000348332 19/20 1 NA TAT A,T 8.237e-06 2:24762676 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 intron_variant 0.862773 0.28326 0.04142 0.156188 0.744658927591388 0.232475 0.999077342831501 TRUE 4.07734e-06 ENSE00000726404_006 ENSE00000726404 006 2 24985511 24985680 + 45 90 35 T C 24985546 316 36 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGTTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGGTAAATACAAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 24762676 24762677 24762677 upstr_intron -10 -0.2 TTAAACAACTAGCTTGTAATTTGATCTTGTATTTACCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 46 1010 0.961405859650676 0.955728763338519 0.958567311494597 NA NA 0.958137282573477 0.791642353857976 NA NA 0.00326857707719852 0.164086409480543 NA 0.874889818215726 NA 0.0836774932788708 NA FALSE NA 0.001 -0.022 . intron_variant MODIFIER NCOA1 HGNC 7668 ENST00000348332 19/20 1 NA ATC T,C 8.236e-06 2:24762677 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 intron_variant 0.771559 0.26293 0.02834 0.156188 0.718686106631396 0.228615 0.999077342831501 TRUE 4.07564e-06 ENSE00000726404_014 ENSE00000726404 014 2 24985511 24985680 + 45 90 35 C T 24985586 324 76 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGTTGCAGTAGAAGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGATAAATACAAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 24762716 24762717 24762717 exon 31 0.344444444444444 TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCTTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 96 974 0.988293346513583 0.975702301989083 0.981997824251333 NA NA 0.958137282573477 0.791642353857976 NA NA 0.0301560639401055 0.184059948131108 NA 0.874889818215726 NA 0.107108006035607 NA FALSE NA 1 5.088 . missense_variant MODERATE NCOA1 HGNC 7668 ENST00000348332 20/21 1 deleterious(0.01) probably_damaging(0.995) NA CCT C,T 8.236e-06 2:24762717 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 missense_variant 5.842478 0.98917 0.94064 0.732398 0.999041747237883 0 0.999077342831501 TRUE 4.06114e-06 ENSE00000726404_016 ENSE00000726404 016 2 24985511 24985680 + 45 90 35 A G 24985596 326 86 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGCTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGATAAATACAAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 24762726 24762727 24762727 exon 41 0.455555555555556 TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAGCCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 47 67 0.876089247683563 0.95 0.913044623841781 NA NA 0.958137282573477 0.791642353857976 NA NA -0.0820480348899143 0.158357646142024 NA 0.874889818215726 NA 0.038154805626055 NA FALSE NA 1 3.45 . missense_variant MODERATE NCOA1 HGNC 7668 ENST00000348332 20/21 1 tolerated(0.06) benign(0.01) NA AAC A,G 1.647e-05 2:24762727 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 missense_variant 2.923467 0.97949 0.89925 0.732398 0.998781000743171 0 0.999077342831501 TRUE 8.12196e-06 ENSE00000726404_019 ENSE00000726404 019 2 24985511 24985680 + 45 90 35 A C 24985610 329 100 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGGGGATGAGAGCTGGTTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGATAAATACAAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 24762740 24762741 24762741 exon -36 0.611111111111111 TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCCCTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 376 53 0.96455799186527 0.947061812119024 0.955809901992147 NA NA 0.958137282573477 0.791642353857976 NA NA 0.00642070929179306 0.155419458261049 NA 0.874889818215726 NA 0.0809200837764208 NA FALSE NA 1 2.299 . missense_variant MODERATE NCOA1 HGNC 7668 ENST00000348332 20/21 1 tolerated(0.09) possibly_damaging(0.447) NA CAC A,C 8.236e-06 2:24762741 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 missense_variant 3.909946 0.97221 0.81907 0.706548 0.989248132393287 0 0.999077342831501 TRUE NA ENSE00000726404_021 ENSE00000726404 021 2 24985511 24985680 + 45 90 35 G A 24985631 331 121 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGGGTTCCATCTGTTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGTTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGATAAATACAAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 24762761 24762762 24762762 exon -15 0.844444444444444 TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAACAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 1428 1100 0.809884679052182 0.804862559471977 0.80737361926208 NA NA 0.958137282573477 0.791642353857976 NA NA -0.148252603521295 0.0132202056140014 NA 0.874889818215726 NA -0.0675161989536467 NA FALSE NA 0.996 0.138 rs151286421 missense_variant MODERATE NCOA1 HGNC 7668 ENST00000348332 20/21 rs151286421 1 tolerated(0.25) benign(0) NA A:0.0002 A:0 AGC G,A 1.647e-05 2:24762762 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 missense_variant 2.309082 0.95613 0.62918 0.706548 0.986495321276176 0 0.999077342831501 TRUE 1.21834e-05 ENSE00000726404_022 ENSE00000726404 022 2 24985511 24985680 + 45 90 35 C A 24985642 332 132 TTTGACAGCTCTGGGCTTAGAATTTCCTTACTGACCTGTGTTCCATCTGCTTCTGTTTTGAGAAGGTCAGTGGATGAGAGCTGGTTGCAGTAGAGGCCTGTGTGTCTCAGTGCGGGATCATTTATCTATTAAAGATAAATACAAGATCAAATTACAAGCTAGTTGTTTAA 24762641 24762811 24762772 24762773 24762773 exon -4 0.966666666666667 TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACACAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA TTAAACAACTAGCTTGTAATTTGATCTTGTATTTATCTTTAATAGATAAATGATCCCGCACTGAGACACACAGGCCTCTACTGCAACCAGCTCTCATCCACTGACCTTCTCAAAACAGAAGCAGATGGAACCCAGGTCAGTAAGGAAATTCTAAGCCCAGAGCTGTCAAA mutant NA NA NA NA NA 101 73 0.960983759879349 0.805942590731305 0.883463175305327 NA NA 0.958137282573477 0.791642353857976 NA NA 0.00284647730587151 0.0143002368733292 NA 0.874889818215726 NA 0.00857335708960033 NA FALSE NA 1 1.405 . synonymous_variant LOW NCOA1 HGNC 7668 ENST00000348332 20/21 1 NA CCC C,A 1.647e-05 2:24762773 NCOA1 HGNC Symbol protein_coding 278788 ENSG00000084676 ENSE00000726404 synonymous_variant 2.926727 0.97131 0.7545 0.706548 0.752674798371871 0 0.999077342831501 TRUE 8.12269e-06 ENSE00000726899_000 ENSE00000726899 000 9 127076143 127076312 + 59 63 48 NA NA NA NA NA CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 NA NA NA NA NA NA CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT natural 15 76 0.996053910288464 0.998098314752265 0.997076112520364 1094 839 0.984529541582906 0.997413872506597 0.990971707044752 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 0 0 0 0 0.997076112520364 0.990971707044752 0 0 0 FALSE FALSE NA NA NA NA NA NEK6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEK6 NA NA NA ENSG00000119408 ENSE00000726899 NA NA NA NA NA NA NA 0.644137660973949 FALSE NA ENSE00000726899_001 ENSE00000726899 001 9 127076143 127076312 + 59 63 48 A G 127076161 2419 19 CTTTGGGTCACTGGACACGGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313881 124313882 124313882 upstr_intron -41 -0.677966101694915 CTTTGGGTCACTGGACACGGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 176 172 1 0.994506675854062 0.997253337927031 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 -0.00290719665253503 0.997076112520364 0.990971707044752 NA 0.00628163088227934 NA FALSE NA 0.003 -1.387 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 3/9 1 NA CAG A,G 8.236e-06 9:124313882 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant -0.123458 0.13008 0.00607 0.256867 0.317851238635651 0.0448725 0.644137660973949 FALSE NA ENSE00000726899_002 ENSE00000726899 002 9 127076143 127076312 + 59 63 48 T C 127076178 2420 36 CTTTGGGTCACTGGACACAGATTGTAACCACTCTACTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313898 124313899 124313899 upstr_intron -24 -0.389830508474576 CTTTGGGTCACTGGACACAGATTGTAACCACTCTACTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 131 20 1 0.905678002515711 0.952839001257856 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 -0.091735869990886 0.997076112520364 0.990971707044752 NA -0.0381327057868961 NA FALSE NA 0.339 1.844 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 3/9 1 NA ATT T,C 1.647e-05 9:124313899 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant 0.020455 0.23269 0.68262 0.256867 0.321866096584567 0.0455939 0.644137660973949 FALSE 4.46857e-05 ENSE00000726899_003 ENSE00000726899 003 9 127076143 127076312 + 59 63 48 T A 127076180 2421 38 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTACTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313900 124313901 124313901 upstr_intron -22 -0.355932203389831 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTACTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 193 96 0.921792436844438 1 0.960896218422219 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA -0.0627371047384685 0.00258612749340259 0.997076112520364 0.990971707044752 NA -0.030075488622533 NA FALSE NA 0.339 2.879 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 3/9 rs376768111 1 NA A:0 A:0.0001 TTC T,A 1.647e-05 9:124313901 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant 0.382794 0.23358 0.86366 0.256867 0.774693087962256 0.0455939 0.644137660973949 FALSE 1.21861e-05 ENSE00000726899_004 ENSE00000726899 004 9 127076143 127076312 + 59 63 48 C T 127076194 2422 52 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCTGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313914 124313915 124313915 upstr_intron -8 -0.11864406779661 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCTGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 146 270 0.997722951254774 1 0.998861475627387 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.013193409671868 0.00258612749340259 0.997076112520364 0.990971707044752 NA 0.00788976858263529 NA FALSE NA 0.003 0.329 . splice_region_variant&intron_variant LOW NEK6 HGNC 7749 ENST00000546191 3/9 1 NA CCG C,T 4.942e-05 9:124313915 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 splice_region_variant 0.768299 0.36187 0.04554 0.256867 0.409520499457747 0.0927985 0.644137660973949 FALSE 4.46835e-05 ENSE00000726899_008 ENSE00000726899 008 9 127076143 127076312 + 59 63 48 G A 127076225 2426 83 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAAGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313945 124313946 124313946 exon 24 0.380952380952381 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAAGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 76 270 1 1 1 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 0.00258612749340259 0.997076112520364 0.990971707044752 NA 0.00902829295524815 NA FALSE NA 1 0.935 . synonymous_variant LOW NEK6 HGNC 7749 ENST00000546191 4/10 1 NA AGG G,A 1.647e-05 9:124313946 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 synonymous_variant 0.602637 0.96562 0.81275 0.706298 0.370837450531391 0 0.644137660973949 FALSE 1.21829e-05 ENSE00000726899_009 ENSE00000726899 009 9 127076143 127076312 + 59 63 48 G A 127076231 2427 89 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGACAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313951 124313952 124313952 exon 30 0.476190476190476 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGACAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 40 100 0.967120444041388 0.996499650967934 0.98181004750466 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA -0.0174090975415188 -0.000914221538663829 0.997076112520364 0.990971707044752 NA -0.00916165954009129 NA FALSE NA 1 0.923 . synonymous_variant LOW NEK6 HGNC 7749 ENST00000546191 4/10 rs200803888 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 GGC G,A 0.0001977 9:124313952 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 synonymous_variant 0.625523 0.96658 0.84704 0.706298 0.498642154492466 0 0.644137660973949 FALSE 0.000182753 ENSE00000726899_010 ENSE00000726899 010 9 127076143 127076312 + 59 63 48 T C 127076240 2428 98 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGCGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313960 124313961 124313961 exon -25 0.619047619047619 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGCGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 71 31 1 0.823865189386877 0.911932594693438 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 -0.173548683119721 0.997076112520364 0.990971707044752 NA -0.0790391123513134 NA FALSE NA 0.329 -0.244 rs150614386 synonymous_variant LOW NEK6 HGNC 7749 ENST00000546191 4/10 rs150614386 1 C:0.0028 C:0.0106 C:0 NA C:0 C:0 C:0 C:0.0089 C:0 GTG C,C 0.0007495 9:124313961 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 synonymous_variant -0.945547 0.93362 0.07273 0.706298 0.462597721426887 0 0.644137660973949 FALSE 0.000621451 ENSE00000726899_012 ENSE00000726899 012 9 127076143 127076312 + 59 63 48 C T 127076252 2430 110 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATTGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313972 124313973 124313973 exon -13 0.80952380952381 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATTGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 59 314 0.999300389226913 0.9994959966971 0.999398192962006 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0147708476440068 0.00208212419050235 0.997076112520364 0.990971707044752 NA 0.00842648591725459 NA FALSE NA 0.604 -0.255 . synonymous_variant LOW NEK6 HGNC 7749 ENST00000546191 4/10 COSM1241477&COSM1241476 1 NA TCG C,T 8.236e-06 9:124313973 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 synonymous_variant 2.114587 0.89112 0.19604 0.706298 0.888885485165616 0 0.644137660973949 FALSE 2.03176e-05 ENSE00000726899_015 ENSE00000726899 015 9 127076143 127076312 + 59 63 48 C T 127076273 2433 131 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACTCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124313993 124313994 124313994 downstr_intron 9 1.19148936170213 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACTCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 237 515 1 1 1 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 0.00258612749340259 0.997076112520364 0.990971707044752 NA 0.00902829295524815 NA FALSE NA 0 -0.021 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 rs534557975 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCC C,T 7.413e-05 9:124313994 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant 0.32262 0.2619 0.03505 0.069865 0.587807009265959 0.107047 0.644137660973949 FALSE 8.95802e-05 ENSE00000726899_016 ENSE00000726899 016 9 127076143 127076312 + 59 63 48 C T 127076280 2434 138 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCTGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124314000 124314001 124314001 downstr_intron 16 1.34042553191489 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCTGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 23 399 1 0.815062751741701 0.907531375870851 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 -0.182351120764896 0.997076112520364 0.990971707044752 NA -0.0834403311739014 NA FALSE NA 0 -1.812 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 1 NA CCG C,T 8.236e-06 9:124314001 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant -0.198628 0.15292 0.00627 0.069865 0.549687422432545 0.095647 0.644137660973949 FALSE 3.67566e-05 ENSE00000726899_017 ENSE00000726899 017 9 127076143 127076312 + 59 63 48 G A 127076281 2435 139 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCAAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124314001 124314002 124314002 downstr_intron 17 1.36170212765957 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCAAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 429 69 1 1 1 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 0.00258612749340259 0.997076112520364 0.990971707044752 NA 0.00902829295524815 NA FALSE NA 0 -0.947 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:124314002 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant -0.162692 0.2121 0.02186 0.069865 0.40440333284583 0.0521688 0.644137660973949 FALSE 0.00024107 ENSE00000726899_018 ENSE00000726899 018 9 127076143 127076312 + 59 63 48 G C 127076281 2436 139 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCCAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124314001 124314002 124314002 downstr_intron 17 1.36170212765957 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCCAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 228 62 1 1 1 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 0.00258612749340259 0.997076112520364 0.990971707044752 NA 0.00902829295524815 NA FALSE NA 0 -0.947 NA NA NA NEK6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEK6 NA NA NA ENSG00000119408 ENSE00000726899 intron_variant -0.506537 0.21138 0.04021 0.069865 0.307860353383626 0.0521688 0.644137660973949 FALSE 4.08594e-06 ENSE00000726899_019 ENSE00000726899 019 9 127076143 127076312 + 59 63 48 C T 127076284 2437 142 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGTGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124314004 124314005 124314005 downstr_intron 20 1.42553191489362 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGTGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 23 117 1 0.802156847794815 0.901078423897407 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 -0.195257024711782 0.997076112520364 0.990971707044752 NA -0.0898932831473443 NA FALSE NA 0 -0.08 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 rs567918543 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 GCG C,T 3.295e-05 9:124314005 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant -0.100475 0.24392 0.02898 0.099367 0.353763812082991 0.0527663 0.644137660973949 FALSE 3.68137e-05 ENSE00000726899_020 ENSE00000726899 020 9 127076143 127076312 + 59 63 48 G A 127076285 2438 143 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCAGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124314005 124314006 124314006 downstr_intron 21 1.4468085106383 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCAGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 37 171 1 0.983943319859911 0.991971659929956 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 -0.0134705526466862 0.997076112520364 0.990971707044752 NA 0.00099995288520377 NA FALSE NA 0.001 -0.629 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 1 NA CGG G,A 8.236e-06 9:124314006 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant -0.087547 0.2171 0.00774 0.099367 0.488965298532038 0.0527663 0.644137660973949 FALSE 1.63692e-05 ENSE00000726899_022 ENSE00000726899 022 9 127076143 127076312 + 59 63 48 C T 127076290 2440 148 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGTTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 124314010 124314011 124314011 downstr_intron 26 1.5531914893617 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGTTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 92 38 1 1 1 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 0.00258612749340259 0.997076112520364 0.990971707044752 NA 0.00902829295524815 NA FALSE NA 0.005 0.812 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 1 NA GCT C,T 8.236e-06 9:124314011 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant 0.390457 0.26372 0.11347 0.099367 0.806587053691714 0.0527663 0.644137660973949 FALSE 4.10004e-06 ENSE00000726899_023 ENSE00000726899 023 9 127076143 127076312 + 59 63 48 G T 127076294 2441 152 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTTCCTCCTCGGGGAGGTTCT 124313863 124314033 124314014 124314015 124314015 downstr_intron 30 1.63829787234043 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTTCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 509 53 0.994592204654568 0.997004180566592 0.99579819261058 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0100626630716613 -0.000409691940005286 0.997076112520364 0.990971707044752 NA 0.00482648556582799 NA FALSE NA 0 -2.05 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 1 NA TGC G,T 8.237e-06 9:124314015 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant -0.264525 0.09021 0.0272 0.099367 0.606560282475189 0.0527663 0.644137660973949 FALSE 4.11526e-06 ENSE00000726899_024 ENSE00000726899 024 9 127076143 127076312 + 59 63 48 C T 127076298 2442 156 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTTCTCGGGGAGGTTCT 124313863 124314033 124314018 124314019 124314019 downstr_intron 34 1.72340425531915 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTTCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 1228 555 0.99929410333556 0.999714934727828 0.999504519031694 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0147645617526534 0.00230106222123028 0.997076112520364 0.990971707044752 NA 0.00853281198694184 NA FALSE NA 0 -0.125 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 1 NA TCC C,T 8.237e-06 9:124314019 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant 0.456248 0.24355 0.02661 0.099367 0.826110911547816 0.0527663 0.644137660973949 FALSE 4.12732e-06 ENSE00000726899_025 ENSE00000726899 025 9 127076143 127076312 + 59 63 48 C T 127076301 2443 159 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTTGGGGAGGTTCT 124313863 124314033 124314021 124314022 124314022 downstr_intron 37 1.78723404255319 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTTGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 38 211 1 1 1 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 0.00258612749340259 0.997076112520364 0.990971707044752 NA 0.00902829295524815 NA FALSE NA 0 -2.818 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 1 NA TCG C,T 8.237e-06 9:124314022 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant 0.153241 0.0829 0.00349 0.099367 0.786728312030057 0.0527663 0.644137660973949 FALSE 1.2456e-05 ENSE00000726899_026 ENSE00000726899 026 9 127076143 127076312 + 59 63 48 G A 127076302 2444 160 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCAGGGAGGTTCT 124313863 124314033 124314022 124314023 124314023 downstr_intron 38 1.80851063829787 CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCAGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT mutant NA NA NA NA NA 25 123 1 1 1 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA 0.0154704584170937 0.00258612749340259 0.997076112520364 0.990971707044752 NA 0.00902829295524815 NA FALSE NA 0 -1.69 . intron_variant MODIFIER NEK6 HGNC 7749 ENST00000546191 4/9 1 NA CGG G,A 0.0001318 9:124314023 NEK6 HGNC Symbol protein_coding 95701 ENSG00000119408 ENSE00000726899 intron_variant -0.294275 0.08824 0.00246 0.099367 0.725711084944033 0.0527663 0.644137660973949 FALSE 9.13576e-05 ENSE00000726899_BRK ENSE00000726899 BRK 9 127076143 127076312 + 59 63 48 A,G; T,T NA NA NA CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCATTATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGCCGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT 124313863 124314033 NA NA NA NA NA NA CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCATTATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGCCGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT CTTTGGGTCACTGGACACAGATTGTAACCACTCTATTTCTCTTTTTCCTCCCGCCCAAGATCTTTGAGATGATGGACGCCAAGGCGAGGCAGGACTGTGTCAAGGAGATCGGCCTCTTGAAGGTGAGCACCCTGGGCCGAGCGGGAGCTTTGCCTCCTCGGGGAGGTTCT control NA NA NA NA NA 40 462 0 0.0643789371356414 0.0321894685678207 0.996053910288464 0.998098314752265 0.984529541582906 0.997413872506597 NA NA -0.984529541582906 -0.933034935370956 0.997076112520364 0.990971707044752 NA -0.958782238476931 NA TRUE NA NA NA NA NA NA NEK6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEK6 NA NA NA ENSG00000119408 ENSE00000726899 NA NA NA NA NA NA NA 0.644137660973949 FALSE NA ENSE00000729864_000 ENSE00000729864 000 7 150490581 150490750 - 51 57 62 NA NA NA NA NA GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 NA NA NA NA NA NA GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT natural 37 36 0.998744133048384 0.994191043303025 0.996467588175705 1508 3040 0.772426766093926 0.87103610838657 0.821731437240248 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 0 0 0 0 0.996467588175705 0.821731437240248 0 0 0 FALSE FALSE NA NA NA NA NA TMEM176B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM176B NA NA NA ENSG00000106565 ENSE00000729864 NA NA NA NA NA NA NA 2.99736600245482e-09 FALSE NA ENSE00000729864_001 ENSE00000729864 001 7 150490581 150490750 - 51 57 62 G A 150490592 3058 159 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACTCCCTCCTGAAT 150793492 150793662 150793503 150793504 150793504 downstr_intron 40 1.8 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACTCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 164 112 0.99797504707186 0.957282956180284 0.977629001626072 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.225548280977934 0.0862468477937143 0.996467588175705 0.821731437240248 NA 0.155897564385824 NA FALSE NA 0 -0.61 . intron_variant MODIFIER TMEM176B HGNC 29596 ENST00000429904 3/5 1 NA GGG G,A 8.237e-06 7:150793504 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 intron_variant 0.132519 0.13353 0.01132 0.06567 0.62257343051768 0.0738372 2.99736600245482e-09 FALSE 4.19189e-06 ENSE00000729864_002 ENSE00000729864 002 7 150490581 150490750 - 51 57 62 C A 150490602 3059 149 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTTTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793513 150793514 150793514 downstr_intron 30 1.6 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTTTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 100 159 0.996236273354019 1 0.99811813667701 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.223809507260093 0.12896389161343 0.996467588175705 0.821731437240248 NA 0.176386699436762 NA FALSE NA 0 -0.231 . intron_variant MODIFIER TMEM176B HGNC 29596 ENST00000429904 3/5 1 NA ACA C,A 1.647e-05 7:150793514 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 intron_variant 0.324196 0.17187 0.02383 0.06567 0.705835669397694 0.0739346 2.99736600245482e-09 FALSE 1.24139e-05 ENSE00000729864_005 ENSE00000729864 005 7 150490581 150490750 - 51 57 62 G A 150490611 3062 140 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTTTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793522 150793523 150793523 downstr_intron 21 1.42 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTTTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 364 428 0.986412501243125 0.851438722395143 0.918925611819134 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.213985735149199 -0.0195973859914274 0.996467588175705 0.821731437240248 NA 0.0971941745788856 NA FALSE NA 0.001 -0.337 . intron_variant MODIFIER TMEM176B HGNC 29596 ENST00000429904 3/5 rs202214601 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 AGA G,A 1.647e-05 7:150793523 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 intron_variant 0.008852 0.15022 0.00936 0.06567 0.617123303942569 0.180466 2.99736600245482e-09 FALSE 1.64418e-05 ENSE00000729864_006 ENSE00000729864 006 7 150490581 150490750 - 51 57 62 G A 150490617 3063 134 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACATCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793528 150793529 150793529 downstr_intron 15 1.3 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACATCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 273 337 1 0.967703197808896 0.983851598904448 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.227573233906074 0.0966670894223263 0.996467588175705 0.821731437240248 NA 0.1621201616642 NA FALSE NA 0 -0.061 . intron_variant MODIFIER TMEM176B HGNC 29596 ENST00000429904 3/5 rs372466146 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0002 A:0 GGT G,A 0.0002965 7:150793529 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 intron_variant -0.13372 0.09385 0.00105 0.06567 0.581590671048048 0.188578 2.99736600245482e-09 FALSE 0.000246132 ENSE00000729864_007 ENSE00000729864 007 7 150490581 150490750 - 51 57 62 A G 150490636 3064 115 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACCTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793547 150793548 150793548 exon -5 0.929824561403509 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACCTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 1250 277 0.972174043931145 0.992019042645733 0.982096543288439 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.199747277837219 0.120982934259164 0.996467588175705 0.821731437240248 NA 0.160365106048191 NA FALSE NA 0.001 0.227 . missense_variant MODERATE TMEM176B HGNC 29596 ENST00000429904 3/6 1 deleterious(0.01) probably_damaging(0.994) NA AAG A,G 1.647e-05 7:150793548 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 missense_variant 2.209401 0.147 0.02017 0.554377 0.983848046739493 0 2.99736600245482e-09 FALSE 4.08193e-06 ENSE00000729864_009 ENSE00000729864 009 7 150490581 150490750 - 51 57 62 G T 150490641 3066 110 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGAAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793552 150793553 150793553 exon -10 0.842105263157895 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGAAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 80 247 1 0.999359167337756 0.999679583668878 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.227573233906074 0.128323058951186 0.996467588175705 0.821731437240248 NA 0.17794814642863 NA FALSE NA 0.004 0.062 . synonymous_variant LOW TMEM176B HGNC 29596 ENST00000429904 3/6 rs556270613 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 TGC G,T 0.0002965 7:150793553 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 synonymous_variant -0.47157 0.13639 0.00835 0.554377 0.738307843263742 0 2.99736600245482e-09 FALSE 0.000318352 ENSE00000729864_010 ENSE00000729864 010 7 150490581 150490750 - 51 57 62 C T 150490644 3067 107 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCAGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793555 150793556 150793556 exon -13 0.789473684210526 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCAGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 134 678 1 0.995256729274235 0.997628364637117 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.227573233906074 0.124220620887665 0.996467588175705 0.821731437240248 NA 0.175896927396869 NA FALSE NA 0 -0.099 . synonymous_variant LOW TMEM176B HGNC 29596 ENST00000429904 3/6 rs573916545 1 NA CCG C,T 8.237e-06 7:150793556 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 synonymous_variant 1.106774 0.14845 0.01364 0.615465 0.708355525462132 0 2.99736600245482e-09 FALSE 1.63221e-05 ENSE00000729864_012 ENSE00000729864 012 7 150490581 150490750 - 51 57 62 T C 150490654 3069 97 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGGGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793565 150793566 150793566 exon -23 0.614035087719298 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGGGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 178 418 1 0.999634987190352 0.999817493595176 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.227573233906074 0.128598878803782 0.996467588175705 0.821731437240248 NA 0.178086056354928 NA FALSE NA 0.999 1.548 . missense_variant MODERATE TMEM176B HGNC 29596 ENST00000429904 3/6 1 deleterious(0) probably_damaging(0.993) NA CTC T,C 8.237e-06 7:150793566 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 missense_variant 4.585192 0.9669 0.68484 0.615465 0.999002278085442 0 2.99736600245482e-09 FALSE 4.07548e-06 ENSE00000729864_013 ENSE00000729864 013 7 150490581 150490750 - 51 57 62 G T 150490666 3070 85 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGACATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793577 150793578 150793578 exon 23 0.403508771929825 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGACATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 280 383 0.984882688827968 0.980481282952895 0.982681985890431 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.212455922734042 0.109445174566325 0.996467588175705 0.821731437240248 NA 0.160950548650183 NA FALSE NA 0 -0.03 . missense_variant MODERATE TMEM176B HGNC 29596 ENST00000429904 3/6 COSM1699581 1 deleterious(0) probably_damaging(0.917) NA GGC G,T 8.237e-06 7:150793578 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 missense_variant 3.366863 0.1825 0.03526 0.554377 0.990340516558143 0 2.99736600245482e-09 FALSE NA ENSE00000729864_014 ENSE00000729864 014 7 150490581 150490750 - 51 57 62 A T 150490671 3071 80 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCAGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793582 150793583 150793583 exon 18 0.315789473684211 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCAGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 74 206 0.844784101565363 1 0.922392050782682 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.0723573354714371 0.12896389161343 0.996467588175705 0.821731437240248 NA 0.100660613542434 NA FALSE NA 0 -0.72 . synonymous_variant LOW TMEM176B HGNC 29596 ENST00000429904 3/6 rs576701446 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CAG A,T 8.237e-06 7:150793583 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 synonymous_variant -1.183719 0.07542 0.00346 0.554377 0.544910472227331 0 2.99736600245482e-09 FALSE 4.07734e-06 ENSE00000729864_015 ENSE00000729864 015 7 150490581 150490750 - 51 57 62 G C 150490678 3072 73 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGGAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793589 150793590 150793590 exon 11 0.192982456140351 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGGAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 80 266 0.876462840740736 1 0.938231420370368 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.10403607464681 0.12896389161343 0.996467588175705 0.821731437240248 NA 0.11649998313012 NA FALSE NA 0.497 3.518 . missense_variant MODERATE TMEM176B HGNC 29596 ENST00000429904 3/6 1 deleterious(0.01) probably_damaging(0.998) NA TGC G,C 8.237e-06 7:150793590 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 missense_variant 4.579702 0.97457 0.77812 0.554377 0.997060678100424 0 2.99736600245482e-09 FALSE 4.0818e-06 ENSE00000729864_017 ENSE00000729864 017 7 150490581 150490750 - 51 57 62 C T 150490682 3074 69 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCACAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793593 150793594 150793594 exon 7 0.12280701754386 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCACAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 442 1031 0.81337082740227 0.991407961334484 0.902389394368377 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.0409440613083438 0.120371852947914 0.996467588175705 0.821731437240248 NA 0.0806579571281288 NA FALSE NA 0 -0.999 NA NA NA TMEM176B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:150793594 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 missense_variant 0.815523 0.13039 0.00916 0.554377 0.839215071911486 0 2.99736600245482e-09 FALSE 0.000486278 ENSE00000729864_019 ENSE00000729864 019 7 150490581 150490750 - 51 57 62 G A 150490683 3076 68 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATTGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793594 150793595 150793595 exon 6 0.105263157894737 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATTGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 55 238 1 0.993971779734379 0.99698588986719 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.227573233906074 0.122935671347809 0.996467588175705 0.821731437240248 NA 0.175254452626941 NA FALSE NA 0 -0.898 . synonymous_variant LOW TMEM176B HGNC 29596 ENST00000429904 3/6 rs369280918&COSM3431374 1 NA CGA G,A 1.647e-05 7:150793595 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 synonymous_variant 0.43509 0.0585 0.00151 0.554377 0.654064331911981 0 2.99736600245482e-09 FALSE NA ENSE00000729864_020 ENSE00000729864 020 7 150490581 150490750 - 51 57 62 G T 150490698 3077 53 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTATCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793609 150793610 150793610 upstr_intron -10 -0.145161290322581 GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTATCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 1140 353 0.915612593491257 1 0.957806296745628 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.143185827397331 0.12896389161343 0.996467588175705 0.821731437240248 NA 0.136074859505381 NA FALSE NA 0.335 0.736 . intron_variant MODIFIER TMEM176B HGNC 29596 ENST00000429904 2/5 1 NA AGA G,T 8.237e-06 7:150793610 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 intron_variant 0.086898 0.18506 0.06438 0.06567 0.792803909130189 0.219501 2.99736600245482e-09 FALSE 4.10304e-06 ENSE00000729864_022 ENSE00000729864 022 7 150490581 150490750 - 51 57 62 T G 150490722 3079 29 GGGTGATGATAGACCAATTCAGAAGAGTCAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793633 150793634 150793634 upstr_intron -34 -0.532258064516129 GGGTGATGATAGACCAATTCAGAAGAGTCAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 402 214 0.998142601998695 0.994098493557538 0.996120547778116 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.225715835904768 0.123062385170968 0.996467588175705 0.821731437240248 NA 0.174389110537868 NA FALSE NA 0 0.362 NA NA NA TMEM176B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:150793634 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 intron_variant 0.225652 0.19348 0.03812 0.06567 0.694237317337176 0.0765744 2.99736600245482e-09 FALSE 8.51905e-06 ENSE00000729864_025 ENSE00000729864 025 7 150490581 150490750 - 51 57 62 G T 150490736 3082 15 GGGTGATGATAGACAAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 150793647 150793648 150793648 upstr_intron -48 -0.758064516129032 GGGTGATGATAGACAAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT mutant NA NA NA NA NA 462 237 1 0.957225513725791 0.978612756862896 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 NA NA 0.227573233906074 0.0861894053392215 0.996467588175705 0.821731437240248 NA 0.156881319622648 NA FALSE NA 0 0.101 . intron_variant MODIFIER TMEM176B HGNC 29596 ENST00000429904 2/5 1 NA TGG G,T 8.242e-06 7:150793648 TMEM176B HGNC Symbol protein_coding 10075 ENSG00000106565 ENSE00000729864 intron_variant 0.152053 0.20481 0.05044 0.06567 0.762766773000944 0.0758165 2.99736600245482e-09 FALSE NA ENSE00000729864_BRK ENSE00000729864 BRK 7 150490581 150490750 - 51 57 62 A,G; T,T NA NA NA GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCTTGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTCCGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT 150793492 150793662 NA NA NA NA NA NA GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCTTGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTCCGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT GGGTGATGATAGACCAATTCAGAAGAGTAAACTGGAGGCCTTTTTCTGGTGTCTCTTTTCAGGTGATCGCAGCAGGAGCTGGGGCCATTGTCCATGAGAAGCACCCGGGCAAACTTGCTGTGAGTCTTGGACACCCTCTCTCCACCTTGTTCACTGACCCCCTCCTGAAT control 30 47 0 0 0 52 71 0 0.0335026742169907 0.0167513371084953 0.998744133048384 0.994191043303025 0.772426766093926 0.87103610838657 -0.998744133048384 -0.994191043303025 -0.772426766093926 -0.837533434169579 0.996467588175705 0.821731437240248 -0.996467588175705 -0.804980100131753 0.191487488043952 TRUE TRUE NA NA NA NA NA TMEM176B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM176B NA NA NA ENSG00000106565 ENSE00000729864 NA NA NA NA NA NA NA 2.99736600245482e-09 FALSE NA ENSE00000731706_000 ENSE00000731706 000 17 42958993 42959162 - 62 36 72 NA NA NA NA NA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 NA NA NA NA NA NA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA natural 1867 2138 0.83103978244755 0.82230084967564 0.826670316061595 11449 10993 0.773015571094012 0.756269357335249 0.764642464214631 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0 0 0 0 0.826670316061595 0.764642464214631 0 0 0 FALSE FALSE NA NA NA NA NA RN7SL405P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EFTUD2 NA NA NA ENSG00000108883 ENSE00003505008 NA NA NA NA NA NA NA 0.999991435314757 TRUE NA ENSE00000731706_001 ENSE00000731706 001 17 42958993 42959162 - 62 36 72 A G 42959005 2201 158 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGCAATAGTTTTGTA 44881624 44881794 44881636 44881637 44881637 downstr_intron 50 1.81967213114754 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGCAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 166 200 0.846690961500754 0.742192924399338 0.794441942950046 77 254 0.772863222386967 0.761724756383432 0.7672939893852 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.015651179053204 -0.0801079252763015 -0.000152348707044725 0.00545539904818282 0.826670316061595 0.764642464214631 -0.0322283731115487 0.00265152517056905 0.0348798982821178 FALSE FALSE 0 -0.009 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 rs367802818 1 NA G:0.0002 G:0 TAC A,G 1.647e-05 17:44881637 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 intron_variant 0.306401 0.09698 0.02434 0.359288 0.673325864915978 0.078079 0.999991435314757 TRUE 8.13359e-06 ENSE00000731706_002 ENSE00000731706 002 17 42958993 42959162 - 62 36 72 G A 42959009 2202 154 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCATCAGTAATAGTTTTGTA 44881624 44881794 44881640 44881641 44881641 downstr_intron 46 1.75409836065574 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCATCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 43 74 0.85 0.85 0.85 NA NA NA NA NA 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524504 0.0276991503243604 NA NA 0.826670316061595 0.764642464214631 0.0233296839384054 NA NA NA FALSE 0.004 -0.255 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:44881641 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 intron_variant 0.193713 0.16604 0.07179 0.359288 0.440357040716122 0.0791087 0.999991435314757 TRUE 4.06524e-06 ENSE00000731706_003 ENSE00000731706 003 17 42958993 42959162 - 62 36 72 G C 42959009 2203 154 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCAGCAGTAATAGTTTTGTA 44881624 44881794 44881640 44881641 44881641 downstr_intron 46 1.75409836065574 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCAGCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 565 815 0.85 0.85 0.85 2053 2743 0.798960995453295 0.800276538906006 0.799618767179651 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524504 0.0276991503243603 0.0259454243592837 0.044007181570757 0.826670316061595 0.764642464214631 0.0233296839384053 0.0349763029650204 0.011646619026615 FALSE FALSE 0.004 -0.255 NA NA NA RN7SL405P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EFTUD2 NA NA NA ENSG00000108883 ENSE00003505008 intron_variant -0.116486 0.16357 0.02323 0.359288 0.564603580299103 0.0791087 0.999991435314757 TRUE 4.06524e-06 ENSE00000731706_004 ENSE00000731706 004 17 42958993 42959162 - 62 36 72 G A 42959020 2204 143 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTATACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881651 44881652 44881652 downstr_intron 35 1.57377049180328 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTATACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 623 1069 0.85 0.85 0.85 496 76 0.805508761798144 0.8 0.802754380899072 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524504 0.0276991503243605 0.0324931907041319 0.0437306426647506 0.826670316061595 0.764642464214631 0.0233296839384055 0.0381119166844412 0.0147822327460358 FALSE FALSE 0.002 0.562 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA TGT G,A 1.647e-05 17:44881652 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 intron_variant 0.065338 0.14984 0.10376 0.359288 0.200887765714188 0.0708573 0.999991435314757 TRUE 8.12433e-06 ENSE00000731706_006 ENSE00000731706 006 17 42958993 42959162 - 62 36 72 T G 42959064 2206 99 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACCGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881695 44881696 44881696 exon -10 0.75 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACCGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 247 323 0.84107213116364 0.862655510854938 0.851863821009289 430 902 0.91310598669944 0.944651292472548 0.928878639585994 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0100323487160906 0.0403546611792989 0.140090415605428 0.188381935137298 0.826670316061595 0.764642464214631 0.0251935049476947 0.164236175371363 0.139042670423668 FALSE FALSE 0.025 -0.944 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA CTG T,G 8.236e-06 17:44881696 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 synonymous_variant 1.226699 0.95678 0.40373 0.706548 0.826531245093285 0 0.999991435314757 TRUE 4.06157e-06 ENSE00000731706_007 ENSE00000731706 007 17 42958993 42959162 - 62 36 72 T C 42959066 2207 97 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCGCAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881697 44881698 44881698 exon -12 0.694444444444444 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCGCAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 211 399 0.828934347064845 0.85 0.839467173532422 667 3261 0.918965934073496 0.920620113002802 0.919793023538149 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 -0.00210543538270502 0.0276991503243603 0.145950362979484 0.164350755667552 0.826670316061595 0.764642464214631 0.0127968574708276 0.155150559323518 0.142353701852691 FALSE FALSE 1 7.744 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA GTG T,C 1.647e-05 17:44881698 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 missense_variant 3.888877 0.99472 0.99669 0.706548 0.979674360853775 0 0.999991435314757 TRUE 8.12295e-06 ENSE00000731706_008 ENSE00000731706 008 17 42958993 42959162 - 62 36 72 G T 42959067 2208 96 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTAACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881698 44881699 44881699 exon -13 0.666666666666667 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTAACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 44 49 0.029587151603831 0 0.0147935758019155 408 535 0.058539279169312 0.0256818961433309 0.0421105876563214 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 -0.801452630843719 -0.82230084967564 -0.7144762919247 -0.730587461191919 0.826670316061595 0.764642464214631 -0.811876740259679 -0.722531876558309 0.08934486370137 TRUE TRUE 1 3.308 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA TGA G,T 1.647e-05 17:44881699 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 missense_variant 2.440732 0.98473 0.98923 0.706548 0.934026172346884 0 0.999991435314757 TRUE 1.21843e-05 ENSE00000731706_009 ENSE00000731706 009 17 42958993 42959162 - 62 36 72 T C 42959081 2209 82 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATGCTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881712 44881713 44881713 exon 10 0.277777777777778 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATGCTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 101 102 0.85 0.884059490365424 0.867029745182712 NA NA NA NA NA 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524504 0.0617586406897841 NA NA 0.826670316061595 0.764642464214631 0.0403594291211172 NA NA NA FALSE 1 7.744 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 COSM3518153 1 NA GTA T,C 8.236e-06 17:44881713 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 missense_variant 4.155624 0.99472 0.99669 0.706548 0.996248198705103 0 0.999991435314757 TRUE 4.06151e-06 ENSE00000731706_010 ENSE00000731706 010 17 42958993 42959162 - 62 36 72 A G 42959087 2210 76 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGCGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881718 44881719 44881719 exon 4 0.111111111111111 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGCGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 79 98 0.85 0.838696676611466 0.844348338305733 198 863 0.902357795031612 0.927418297835088 0.91488804643335 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524504 0.016395826935826 0.1293422239376 0.171148940499839 0.826670316061595 0.764642464214631 0.0176780222441382 0.150245582218719 0.132567559974581 FALSE FALSE 1 7.117 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA CAC A,G 8.236e-06 17:44881719 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 missense_variant 1.183674 0.98685 0.97925 0.706548 0.893135922375011 0 0.999991435314757 TRUE 4.06187e-06 ENSE00000731706_011 ENSE00000731706 011 17 42958993 42959162 - 62 36 72 A G 42959099 2211 64 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTCTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881730 44881731 44881731 upstr_intron -9 -0.111111111111111 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTCTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 42 82 0.896649349821983 0.85 0.873324674910992 1797 1324 0.866479474086893 0.941313475615505 0.903896474851199 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0656095673744335 0.0276991503243604 0.093463902992881 0.185044118280255 0.826670316061595 0.764642464214631 0.0466543588493969 0.139254010636568 0.0925996517871712 FALSE FALSE 0.857 1.762 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 rs199645596 1 NA G:0 G:0.0002 AAA A,G 2.471e-05 17:44881731 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 non_coding_transcript_exon_variant 0.747181 0.19483 0.13752 0.099367 0.769894598579962 0.205477 0.999991435314757 TRUE 3.24997e-05 ENSE00000731706_012 ENSE00000731706 012 17 42958993 42959162 - 62 36 72 T C 42959107 2212 56 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACGGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881738 44881739 44881739 upstr_intron -17 -0.222222222222222 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACGGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 99 300 0.85 0.85 0.85 NA NA NA NA NA 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524504 0.0276991503243604 NA NA 0.826670316061595 0.764642464214631 0.0233296839384054 NA NA NA FALSE 0 -0.801 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA CTG T,C 1.647e-05 17:44881739 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 non_coding_transcript_exon_variant 0.568493 0.15295 0.07153 0.099367 0.683184551277602 0.121998 0.999991435314757 TRUE 2.03136e-05 ENSE00000731706_013 ENSE00000731706 013 17 42958993 42959162 - 62 36 72 G A 42959108 2213 55 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAATAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881739 44881740 44881740 upstr_intron -18 -0.236111111111111 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAATAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 434 484 0.85 0.85 0.85 1431 207 0.798509906577918 0.809088752724598 0.803799329651258 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524504 0.0276991503243604 0.0254943354839066 0.0528193953893483 0.826670316061595 0.764642464214631 0.0233296839384054 0.0391568654366274 0.015827181498222 FALSE FALSE 0 0.138 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA TGT G,A 8.236e-06 17:44881740 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 non_coding_transcript_exon_variant 0.807931 0.16519 0.06946 0.099367 0.616404431915854 0.121998 0.999991435314757 TRUE 8.12585e-06 ENSE00000731706_014 ENSE00000731706 014 17 42958993 42959162 - 62 36 72 T C 42959120 2214 43 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCGGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881751 44881752 44881752 upstr_intron -30 -0.402777777777778 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCGGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant NA NA NA NA NA 313 147 0.633829221204784 0.787488590706092 0.710658905955438 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 NA NA -0.139186349889228 0.031219233370843 0.826670316061595 0.764642464214631 NA -0.0539835582591924 NA FALSE NA 0 -0.256 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA CTG T,C 8.237e-06 17:44881752 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 non_coding_transcript_exon_variant 0.752821 0.13987 0.02754 0.099367 0.649533206742128 0.134954 0.999991435314757 TRUE 4.06537e-06 ENSE00000731706_015 ENSE00000731706 015 17 42958993 42959162 - 62 36 72 T G 42959131 2215 32 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCCGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881762 44881763 44881763 upstr_intron -41 -0.555555555555556 AAAGTGATTGATGGTTCGTTTGTGGGAGAGCCGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 11 15 0.85 0.951912576909006 0.900956288454503 209 817 0.854422755482565 0.804621158722121 0.829521957102343 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524504 0.129611727233366 0.0814071843885538 0.048351801386872 0.826670316061595 0.764642464214631 0.0742859723929083 0.0648794928877129 0.00940647950519541 FALSE FALSE 0.001 0.504 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA CTG T,G 8.236e-06 17:44881763 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 non_coding_transcript_exon_variant 0.646128 0.33195 0.27782 0.099367 0.737958671590947 0.125814 0.999991435314757 TRUE 4.071e-06 ENSE00000731706_016 ENSE00000731706 016 17 42958993 42959162 - 62 36 72 T C 42959134 2216 29 AAAGTGATTGATGGTTCGTTTGTGGGAGGGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881765 44881766 44881766 upstr_intron -44 -0.597222222222222 AAAGTGATTGATGGTTCGTTTGTGGGAGGGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 108 136 0.758612205673154 0.85 0.804306102836577 1320 310 0.934249341551333 0.92279779944232 0.928523570496827 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 -0.0724275767743956 0.0276991503243604 0.161233770457321 0.166528442107071 0.826670316061595 0.764642464214631 -0.0223642132250176 0.163881106282196 0.186245319507214 FALSE FALSE 0 0.549 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA CTC T,C 8.236e-06 17:44881766 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 non_coding_transcript_exon_variant 0.236903 0.21416 0.13356 0.099367 0.703106855134102 0.125814 0.999991435314757 TRUE 4.07053e-06 ENSE00000731706_017 ENSE00000731706 017 17 42958993 42959162 - 62 36 72 C G 42959135 2217 28 AAAGTGATTGATGGTTCGTTTGTGGGACAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881766 44881767 44881767 upstr_intron -45 -0.611111111111111 AAAGTGATTGATGGTTCGTTTGTGGGACAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant 157 156 0.85 0.905169751401349 0.877584875700674 1718 1168 0.769611891208428 0.8 0.784805945604214 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 0.0189602175524503 0.082868901725709 -0.0034036798855841 0.0437306426647505 0.826670316061595 0.764642464214631 0.0509145596390796 0.0201634813895832 0.0307510782494965 FALSE FALSE 0 -0.016 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 rs200149489 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0007 G:0 TCT C,G 0.0001565 17:44881767 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 non_coding_transcript_exon_variant 0.188317 0.2083 0.11558 0.099367 0.496629981452846 0.125814 0.999991435314757 TRUE 0.0001059 ENSE00000731706_018 ENSE00000731706 018 17 42958993 42959162 - 62 36 72 T C 42959136 2218 27 AAAGTGATTGATGGTTCGTTTGTGGGGGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 44881767 44881768 44881768 upstr_intron -46 -0.625 AAAGTGATTGATGGTTCGTTTGTGGGGGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA mutant NA NA NA NA NA 1424 496 0.856490592807976 0.846547649511592 0.851519121159784 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 NA NA 0.0834750217139641 0.0902782921763424 0.826670316061595 0.764642464214631 NA 0.0868766569451533 NA FALSE NA 0 -0.483 . upstream_gene_variant MODIFIER RN7SL405P HGNC 46421 ENST00000582502 1 NA CTC T,C 1.647e-05 17:44881768 EFTUD2 HGNC Symbol protein_coding 49719 ENSG00000108883 ENSE00003505008 non_coding_transcript_exon_variant 0.220474 0.16649 0.02984 0.099367 0.592580484660153 0.125814 0.999991435314757 TRUE 8.14372e-06 ENSE00000731706_BRK ENSE00000731706 BRK 17 42958993 42959162 - 62 36 72 A,G; T,T NA NA NA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCTTCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGCCAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA 44881624 44881794 NA NA NA NA NA NA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCTTCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGCCAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA AAAGTGATTGATGGTTCGTTTGTGGGAGAGCAGTCTCAACTCAGGTGGTAACAACAGTTAATTTTTTTTCAGCTGTGCTATACTGACATCCTCTTCACAGAGCAAGAGGTAAGCATGCCTTGGGGAATCTGATTGTCACCTACACCAGACCCACCAGTAATAGTTTTGTA control 547 71 0.00480980096421695 0 0.00240490048210848 73 1525 0 0 0 0.83103978244755 0.82230084967564 0.773015571094012 0.756269357335249 -0.826229981483333 -0.82230084967564 -0.773015571094012 -0.756269357335249 0.826670316061595 0.764642464214631 -0.824265415579486 -0.764642464214631 0.0596229513648556 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EFTUD2 NA NA NA ENSG00000108883 ENSE00003505008 NA NA NA NA NA NA NA 0.999991435314757 TRUE NA ENSE00000732042_000 ENSE00000732042 000 17 42455033 42455202 - 33 93 44 NA NA NA NA NA ATATGATGCTCTGTAATTTCTTTCTTGGAACTGCCTTCCTGAAGGGCTTTGAGAGACTCATCTGTAATCAGAAGAAGGAGAATGAGACCAGGGTGGTGCTGTGTGAGCTGGGCAACCCCATGAAGAAGAACGCCCAGGTGAGGCTGCTGGGTCGTGGTACCGGGTCTCCA 44377664 44377834 NA NA NA NA NA NA ATATGATGCTCTGTAATTTCTTTCTTGGAACTGCCTTCCTGAAGGGCTTTGAGAGACTCATCTGTAATCAGAAGAAGGAGAATGAGACCAGGGTGGTGCTGTGTGAGCTGGGCAACCCCATGAAGAAGAACGCCCAGGTGAGGCTGCTGGGTCGTGGTACCGGGTCTCCA ATATGATGCTCTGTAATTTCTTTCTTGGAACTGCCTTCCTGAAGGGCTTTGAGAGACTCATCTGTAATCAGAAGAAGGAGAATGAGACCAGGGTGGTGCTGTGTGAGCTGGGCAACCCCATGAAGAAGAACGCCCAGGTGAGGCTGCTGGGTCGTGGTACCGGGTCTCCA natural NA NA NA NA NA 469 524 0.9950620881118 0.999343662522582 0.997202875317191 NA NA 0.9950620881118 0.999343662522582 NA NA 0 0 NA 0.997202875317191 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003519044 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00000732109_000 ENSE00000732109 000 11 65049082 65049251 + 59 63 48 NA NA NA NA NA GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 NA NA NA NA NA NA GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT natural 36 85 0.997346000368666 0.997804742889069 0.997575371628867 2271 1803 0.924021024513393 0.90455514546619 0.914288084989791 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 0 0 0 0 0.997575371628867 0.914288084989791 0 0 0 FALSE FALSE NA NA NA NA NA POLA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLA2 NA NA NA ENSG00000014138 ENSE00003462708 NA NA NA NA NA NA NA 0.000215959060480748 FALSE NA ENSE00000732109_002 ENSE00000732109 002 11 65049082 65049251 + 59 63 48 A G 65049117 1714 36 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAGTCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281645 65281646 65281646 upstr_intron -24 -0.389830508474576 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAGTCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 678 148 1 1 1 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0759789754866069 0.0954448545338101 0.997575371628867 0.914288084989791 NA 0.0857119150102085 NA FALSE NA 0 -1.371 . intron_variant MODIFIER POLA2 HGNC 30073 ENST00000541089 7/15 1 NA AAT A,G 2.471e-05 11:65281646 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 intron_variant 1.647208 0.13393 0.00213 0.295142 0.877272865826101 0.195985 0.000215959060480748 FALSE 1.21935e-05 ENSE00000732109_003 ENSE00000732109 003 11 65049082 65049251 + 59 63 48 T C 65049137 1715 56 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTCCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281665 65281666 65281666 upstr_intron -4 -0.0508474576271186 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTCCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 392 124 0.996591317119465 1 0.998295658559732 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0725702926060715 0.0954448545338101 0.997575371628867 0.914288084989791 NA 0.0840075735699408 NA FALSE NA 1 2.16 . splice_region_variant&intron_variant LOW POLA2 HGNC 30073 ENST00000541089 7/15 rs199885114 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTC T,C 8.236e-06 11:65281666 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 splice_region_variant 1.801513 0.98531 0.93719 0.295142 0.930222091608568 0.800913 0.000215959060480748 FALSE NA ENSE00000732109_004 ENSE00000732109 004 11 65049082 65049251 + 59 63 48 A T 65049147 1716 66 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTATTTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281675 65281676 65281676 exon 7 0.111111111111111 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTATTTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 750 1237 0.900651157825447 0.999872127457787 0.950261642641617 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA -0.0233698666879461 0.0953169819915972 0.997575371628867 0.914288084989791 NA 0.0359735576518256 NA FALSE NA 0.083 0.336 . missense_variant MODERATE POLA2 HGNC 30073 ENST00000541089 8/16 rs200740193 1 benign(0.187) NA AAT A,T 8.236e-06 11:65281676 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 missense_variant 3.234278 0.2808 0.12649 0.722319 0.969493083419414 0 0.000215959060480748 FALSE 8.12585e-06 ENSE00000732109_005 ENSE00000732109 005 11 65049082 65049251 + 59 63 48 G T 65049171 1717 90 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTTGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281699 65281700 65281700 exon 31 0.492063492063492 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTTGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 233 185 0.991264139350919 0.999144158613768 0.995204148982344 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.067243114837526 0.0945890131475783 0.997575371628867 0.914288084989791 NA 0.0809160639925521 NA FALSE NA 1 8.471 . missense_variant MODERATE POLA2 HGNC 30073 ENST00000541089 8/16 1 probably_damaging(1) NA TGG G,T 1.647e-05 11:65281700 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 missense_variant 6.968648 0.99397 0.99201 0.722319 0.996938743104119 0 0.000215959060480748 FALSE 1.21886e-05 ENSE00000732109_006 ENSE00000732109 006 11 65049082 65049251 + 59 63 48 A C 65049177 1718 96 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGCAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281705 65281706 65281706 exon -27 0.587301587301587 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGCAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 101 544 1 0.98698811515646 0.99349405757823 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0759789754866069 0.08243296969027 0.997575371628867 0.914288084989791 NA 0.0792059725884385 NA FALSE NA 0.689 4.967 . missense_variant MODERATE POLA2 HGNC 30073 ENST00000541089 8/16 1 benign(0.119) NA GAA A,C 8.236e-06 11:65281706 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 missense_variant 2.193069 0.89641 0.93689 0.722319 0.968383543276684 0 0.000215959060480748 FALSE 4.06279e-06 ENSE00000732109_007 ENSE00000732109 007 11 65049082 65049251 + 59 63 48 A G 65049178 1719 97 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAGACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281706 65281707 65281707 exon -26 0.603174603174603 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAGACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 432 1029 0.998079021373436 0.991923723627007 0.995001372500222 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0740579968600431 0.0873685781608172 0.997575371628867 0.914288084989791 NA 0.0807132875104302 NA FALSE NA 0.457 1.765 rs137913617 missense_variant MODERATE POLA2 HGNC 30073 ENST00000541089 8/16 rs137913617 1 benign(0.03) NA AAA A,G 8.236e-05 11:65281707 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 missense_variant 1.953339 0.86347 0.79917 0.722319 0.972344826107556 0 0.000215959060480748 FALSE 4.46911e-05 ENSE00000732109_008 ENSE00000732109 008 11 65049082 65049251 + 59 63 48 T C 65049181 1720 100 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACCTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281709 65281710 65281710 exon -23 0.650793650793651 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACCTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 87 177 1 1 1 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0759789754866069 0.0954448545338101 0.997575371628867 0.914288084989791 NA 0.0857119150102085 NA FALSE NA 0.94 6.911 rs192640239 missense_variant MODERATE POLA2 HGNC 30073 ENST00000541089 8/16 rs192640239 1 possibly_damaging(0.806) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTT T,C 1.647e-05 11:65281710 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 missense_variant 5.634299 0.88023 0.96718 0.722319 0.998690608135085 0 0.000215959060480748 FALSE 8.12618e-06 ENSE00000732109_009 ENSE00000732109 009 11 65049082 65049251 + 59 63 48 T C 65049182 1721 101 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTCGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281710 65281711 65281711 exon -22 0.666666666666667 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTCGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 191 145 1 0.8 0.9 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0759789754866069 -0.10455514546619 0.997575371628867 0.914288084989791 NA -0.0142880849897914 NA FALSE NA 0.052 -0.319 . synonymous_variant LOW POLA2 HGNC 30073 ENST00000541089 8/16 1 NA TTG T,C 1.647e-05 11:65281711 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 synonymous_variant 0.250589 0.2554 0.07776 0.722319 0.596760635600094 0 0.000215959060480748 FALSE 8.12645e-06 ENSE00000732109_012 ENSE00000732109 012 11 65049082 65049251 + 59 63 48 C T 65049197 1724 116 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTTTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281725 65281726 65281726 exon -7 0.904761904761905 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTTTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 161 1137 0.967010051273041 0.996025858530732 0.981517954901887 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0429890267596482 0.0914707130645424 0.997575371628867 0.914288084989791 NA 0.0672298699120953 NA FALSE NA 0.992 0.196 rs141608215 synonymous_variant LOW POLA2 HGNC 30073 ENST00000541089 8/16 rs141608215 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0006 TCT C,T 0.0007413 11:65281726 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 synonymous_variant 1.646267 0.97182 0.78354 0.722319 0.683650151254457 0 0.000215959060480748 FALSE 0.000642083 ENSE00000732109_013 ENSE00000732109 013 11 65049082 65049251 + 59 63 48 A G 65049199 1725 118 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTGCGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281727 65281728 65281728 exon -5 0.936507936507937 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTGCGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 443 1756 0.997569660943315 0.993792121361848 0.995680891152582 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0735486364299215 0.0892369758956586 0.997575371628867 0.914288084989791 NA 0.08139280616279 NA FALSE NA 1 8.019 . missense_variant MODERATE POLA2 HGNC 30073 ENST00000541089 8/16 1 probably_damaging(0.954) NA TAC A,G 8.236e-06 11:65281728 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 missense_variant 6.027957 0.99221 0.99103 0.722319 0.998273621919668 0 0.000215959060480748 FALSE NA ENSE00000732109_015 ENSE00000732109 015 11 65049082 65049251 + 59 63 48 A C 65049213 1727 132 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCCGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281741 65281742 65281742 downstr_intron 10 1.21276595744681 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCCGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 206 762 0.98787791894296 0.998335960466804 0.993106939704882 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0638568944295665 0.0937808150006145 0.997575371628867 0.914288084989791 NA 0.0788188547150905 NA FALSE NA 0 -0.23 . intron_variant MODIFIER POLA2 HGNC 30073 ENST00000541089 8/15 1 NA CAG G,C 8.236e-06 11:65281742 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 intron_variant 0.117407 0.26614 0.02777 0.062308 0.559912726962219 0.046323 0.000215959060480748 FALSE 4.06706e-06 ENSE00000732109_016 ENSE00000732109 016 11 65049082 65049251 + 59 63 48 G C 65049214 1728 133 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCACTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281742 65281743 65281743 downstr_intron 11 1.23404255319149 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCACTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant 18 22 0.817480786663709 0.781830669000981 0.799655727832345 335 391 0.999877089560781 1 0.999938544780391 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 -0.179865213704957 -0.215974073888088 0.0758560650473881 0.0954448545338101 0.997575371628867 0.914288084989791 -0.197919643796522 0.0856504597905991 0.283570103587121 FALSE FALSE 0 0.084 . intron_variant MODIFIER POLA2 HGNC 30073 ENST00000541089 8/15 1 NA AGT G,C 8.236e-06 11:65281743 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 intron_variant 0.000945 0.27671 0.08359 0.062308 0.457601670329312 0.046323 0.000215959060480748 FALSE 4.06564e-06 ENSE00000732109_017 ENSE00000732109 017 11 65049082 65049251 + 59 63 48 C T 65049223 1729 142 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCATTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 65281751 65281752 65281752 downstr_intron 20 1.42553191489362 GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCATTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT mutant NA NA NA NA NA 145 73 0.979285977646923 0.870593536425583 0.924939757036253 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 NA NA 0.0552649531335295 -0.0339616090406071 0.997575371628867 0.914288084989791 NA 0.0106516720464612 NA FALSE NA 0 -0.004 . intron_variant MODIFIER POLA2 HGNC 30073 ENST00000541089 8/15 1 NA ACT C,T 8.236e-06 11:65281752 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003462708 intron_variant 0.052565 0.23237 0.09615 0.062308 0.388323529101898 0.0455939 0.000215959060480748 FALSE 4.06702e-06 ENSE00000732109_BRK ENSE00000732109 BRK 11 65049082 65049251 + 59 63 48 A,G; T,T NA NA NA GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCTTGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGCCACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT 65281610 65281780 NA NA NA NA NA NA GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCTTGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGCCACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT GTATTCCAGACCTCATTGATCTCCACTGCTTAGCAATCCTGTTTGTTTTTGTCTTTCAGGTTGTAATTATGGAAGGAATCAACACCACTGGTAGGAAACTTGTTGCCACCAAACTCTACGAGGTACACAGCAGTACCCCCACTTGCCTCTTGGTTTGCTTCAGACAAAGT control 79 117 0 0 0 735 53 0.0348144316840803 0 0.0174072158420402 0.997346000368666 0.997804742889069 0.924021024513393 0.90455514546619 -0.997346000368666 -0.997804742889069 -0.889206592829313 -0.90455514546619 0.997575371628867 0.914288084989791 -0.997575371628867 -0.896880869147751 0.100694502481116 TRUE TRUE NA NA NA NA NA POLA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLA2 NA NA NA ENSG00000014138 ENSE00003462708 NA NA NA NA NA NA NA 0.000215959060480748 FALSE NA ENSE00000732112_000 ENSE00000732112 000 11 65056450 65056619 + 71 39 60 NA NA NA NA NA TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT 65288978 65289148 NA NA NA NA NA NA TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT natural NA NA NA NA NA 171 185 0.959474867684902 0.994835713581392 0.977155290633147 NA NA 0.959474867684902 0.994835713581392 NA NA 0 0 NA 0.977155290633147 NA 0 NA FALSE NA NA NA NA NA NA POLA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLA2 NA NA NA ENSG00000014138 ENSE00003471549 NA NA NA NA NA NA NA 0.000215959060480748 FALSE NA ENSE00000732112_002 ENSE00000732112 002 11 65056450 65056619 + 71 39 60 C A 65056481 1731 32 TATCTGAAGTCATTCACAGACACAAGTGATTATGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT 65288978 65289148 65289009 65289010 65289010 upstr_intron -40 -0.549295774647887 TATCTGAAGTCATTCACAGACACAAGTGATTATGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT mutant NA NA NA NA NA 52 10 0.803094335772158 0.8 0.801547167886079 NA NA 0.959474867684902 0.994835713581392 NA NA -0.156380531912744 -0.194835713581392 NA 0.977155290633147 NA -0.175608122747068 NA FALSE NA 0.779 1.777 . intron_variant&non_coding_transcript_variant MODIFIER POLA2 HGNC 30073 ENST00000533192 1/4 rs113149405 1 NA TCT C,A 8.236e-06 11:65289010 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003471549 intron_variant 1.032935 0.59666 0.66748 0.156188 0.791895499997358 0.614454 0.000215959060480748 FALSE NA ENSE00000732112_005 ENSE00000732112 005 11 65056450 65056619 + 71 39 60 G A 65056497 1734 48 TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGATGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT 65288978 65289148 65289025 65289026 65289026 upstr_intron -24 -0.323943661971831 TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGATGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT mutant NA NA NA NA NA 10 20 1 1 1 NA NA 0.959474867684902 0.994835713581392 NA NA 0.0405251323150979 0.00516428641860833 NA 0.977155290633147 NA 0.0228447093668531 NA FALSE NA 0.001 -0.035 . intron_variant&non_coding_transcript_variant MODIFIER POLA2 HGNC 30073 ENST00000533192 1/4 1 NA GGT G,A 8.236e-06 11:65289026 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003471549 intron_variant 0.174549 0.21469 0.08172 0.295142 0.394109221972236 0.119629 0.000215959060480748 FALSE 4.08193e-06 ENSE00000732112_008 ENSE00000732112 008 11 65056450 65056619 + 71 39 60 T G 65056541 1737 92 TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCGAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT 65288978 65289148 65289069 65289070 65289070 exon -19 0.538461538461538 TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCGAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT mutant NA NA NA NA NA 38 38 1 0.955802809614688 0.977901404807344 NA NA 0.959474867684902 0.994835713581392 NA NA 0.0405251323150979 -0.0390329039667038 NA 0.977155290633147 NA 0.000746114174197066 NA FALSE NA 0.757 -0.602 NA NA NA POLA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:65289070 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003471549 synonymous_variant 1.420484 0.80309 0.31969 0.706548 0.604802913007313 0 0.000215959060480748 FALSE 6.92182e-05 ENSE00000732112_009 ENSE00000732112 009 11 65056450 65056619 + 71 39 60 G A 65056554 1738 105 TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGATGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT 65288978 65289148 65289082 65289083 65289083 exon -6 0.871794871794872 TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGATGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT mutant NA NA NA NA NA 10 127 0.877684162940792 1 0.938842081470396 NA NA 0.959474867684902 0.994835713581392 NA NA -0.0817907047441097 0.00516428641860833 NA 0.977155290633147 NA -0.0383132091627507 NA FALSE NA 1 5.118 rs140114790 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER POLA2 HGNC 30073 ENST00000533192 2/5 rs140114790 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGT G,A 5.765e-05 11:65289083 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003471549 missense_variant 6.40103 0.94349 0.84409 0.706548 0.998474376648705 0 0.000215959060480748 FALSE 5.30305e-05 ENSE00000732112_010 ENSE00000732112 010 11 65056450 65056619 + 71 39 60 C T 65056587 1739 138 TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCTTGGGTACTTGAATCCAGTCAGGCTCTCACTTT 65288978 65289148 65289115 65289116 65289116 downstr_intron 28 1.47457627118644 TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCTTGGGTACTTGAATCCAGTCAGGCTCTCACTTT TATCTGAAGTCATTCACAGACACAAGTGATTCTGATTTGTTCTTTTGGTGTCTTTGTTTCTCCCCTTGCAGTTTGGCCCTTTCCTGGATGCTAAGCATGAACAGGTGGAGGTGAGTGGGCTGGGGTGGGAAGGGGTCCTGGGTACTTGAATCCAGTCAGGCTCTCACTTT mutant NA NA NA NA NA 192 31 0.993993999042006 1 0.996996999521003 NA NA 0.959474867684902 0.994835713581392 NA NA 0.0345191313571036 0.00516428641860833 NA 0.977155290633147 NA 0.019841708887856 NA FALSE NA 0 -0.058 . intron_variant&non_coding_transcript_variant MODIFIER POLA2 HGNC 30073 ENST00000533192 2/4 rs200658045 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCT C,T 8.236e-06 11:65289116 POLA2 HGNC Symbol protein_coding 43827 ENSG00000014138 ENSE00003471549 intron_variant 0.230214 0.35115 0.11532 0.062308 0.455501350053646 0.117017 0.000215959060480748 FALSE 4.15697e-06 ENSE00000734603_000 ENSE00000734603 000 11 65826936 65827105 + 50 81 39 NA NA NA NA NA GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 NA NA NA NA NA NA TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC natural NA NA NA NA NA 1277 3825 0.997554219360256 0.977567710344448 0.987560964852352 NA NA 0.997554219360256 0.977567710344448 NA NA 0 0 NA 0.987560964852352 NA 0 NA FALSE NA NA NA NA NA NA SF3B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SF3B2 NA NA NA ENSG00000087365 ENSE00003628106 NA NA NA NA NA NA NA 0.999459845161211 TRUE NA ENSE00000734603_002 ENSE00000734603 002 11 65826936 65827105 + 50 81 39 T A 65826973 1817 38 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACTATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059501 66059502 66059502 upstr_intron -13 -0.24 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATAGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 92 47 1 1 1 NA NA 0.997554219360256 0.977567710344448 NA NA 0.00244578063974421 0.0224322896555516 NA 0.987560964852352 NA 0.0124390351476479 NA FALSE NA 0 -0.055 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 rs369929603 1 NA A:0 A:0.0002 TTG T,A 8.237e-06 11:66059502 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 intron_variant 1.167389 0.18973 0.1524 0.283894 0.770809823764871 0.0607128 0.999459845161211 TRUE 4.06177e-06 ENSE00000734603_003 ENSE00000734603 003 11 65826936 65827105 + 50 81 39 T G 65826978 1818 43 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACCGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059506 66059507 66059507 upstr_intron -8 -0.14 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCGGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 1100 583 0.997164616190805 0.996611591828868 0.996888104009837 NA NA 0.997554219360256 0.977567710344448 NA NA -0.000389603169451136 0.0190438814844198 NA 0.987560964852352 NA 0.00932713915748434 NA FALSE NA 0 0.113 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA CTG T,G 2.471e-05 11:66059507 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 splice_region_variant 0.590863 0.16148 0.1006 0.283894 0.720952544367027 0.147257 0.999459845161211 TRUE 3.24923e-05 ENSE00000734603_005 ENSE00000734603 005 11 65826936 65827105 + 50 81 39 A G 65827008 1820 73 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCCTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059536 66059537 66059537 exon 23 0.283950617283951 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAGGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 56 77 1 1 1 NA NA 0.997554219360256 0.977567710344448 NA NA 0.00244578063974421 0.0224322896555516 NA 0.987560964852352 NA 0.0124390351476479 NA FALSE NA 1 7.956 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA AAG A,G 8.236e-06 11:66059537 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 missense_variant 3.891347 0.98917 0.99256 0.706548 0.998066535986764 0 0.999459845161211 TRUE 4.06075e-06 ENSE00000734603_006 ENSE00000734603 006 11 65826936 65827105 + 50 81 39 C T 65827028 1821 93 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCACAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059556 66059557 66059557 exon -39 0.530864197530864 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGTGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 1125 94 0.950136674684883 0.996620025288707 0.973378349986795 NA NA 0.997554219360256 0.977567710344448 NA NA -0.0474175446753726 0.0190523149442586 NA 0.987560964852352 NA -0.014182614865557 NA FALSE NA 1 1.736 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA GCG C,T 8.236e-06 11:66059557 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 missense_variant 7.023655 0.96684 0.9062 0.706548 0.998930959476121 0 0.999459845161211 TRUE 4.06065e-06 ENSE00000734603_007 ENSE00000734603 007 11 65826936 65827105 + 50 81 39 G A 65827029 1822 94 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGTGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059557 66059558 66059558 exon -38 0.54320987654321 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCACCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 1020 446 0.999108980534114 0.99853608155685 0.998822531045482 NA NA 0.997554219360256 0.977567710344448 NA NA 0.00155476117385811 0.0209683712124016 NA 0.987560964852352 NA 0.0112615661931298 NA FALSE NA 1 8.397 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 COSM164292 1 NA CGC G,A 8.236e-06 11:66059558 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 missense_variant 7.213293 0.98555 0.9895 0.706548 0.999475373563869 0 0.999459845161211 TRUE 8.12123e-06 ENSE00000734603_008 ENSE00000734603 008 11 65826936 65827105 + 50 81 39 G A 65827032 1823 97 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTTGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059560 66059561 66059561 exon -35 0.580246913580247 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCAAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 58 15 0.980968781832223 0.989307405370834 0.985138093601528 NA NA 0.997554219360256 0.977567710344448 NA NA -0.0165854375280331 0.0117396950263856 NA 0.987560964852352 NA -0.00242287125082374 NA FALSE NA 1 8.397 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA CGA G,A 2.471e-05 11:66059561 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 missense_variant 4.755447 0.99159 0.99247 0.706548 0.999424128263076 0 0.999459845161211 TRUE 1.21822e-05 ENSE00000734603_009 ENSE00000734603 009 11 65826936 65827105 + 50 81 39 A G 65827034 1824 99 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCACTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059562 66059563 66059563 exon -33 0.604938271604938 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAGTGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant 141 28 0.170115867240544 0 0.085057933620272 NA NA NA NA NA NA NA 0.997554219360256 0.977567710344448 NA NA NA NA NA 0.987560964852352 NA NA NA NA NA 1 7.956 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA AAT A,G 8.236e-06 11:66059563 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 missense_variant 2.437482 0.98917 0.99256 0.706548 0.986238049092785 0 0.999459845161211 TRUE 8.1213e-06 ENSE00000734603_011 ENSE00000734603 011 11 65826936 65827105 + 50 81 39 T C 65827043 1826 108 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAGGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059571 66059572 66059572 exon -24 0.716049382716049 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCCTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 373 365 1 1 1 NA NA 0.997554219360256 0.977567710344448 NA NA 0.00244578063974421 0.0224322896555516 NA 0.987560964852352 NA 0.0124390351476479 NA FALSE NA 1 3.55 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA CTT T,C 8.236e-06 11:66059572 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 missense_variant 1.538579 0.97545 0.87298 0.706548 0.532512022798486 0 0.999459845161211 TRUE 4.06072e-06 ENSE00000734603_013 ENSE00000734603 013 11 65826936 65827105 + 50 81 39 C T 65827073 1828 138 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGATCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059601 66059602 66059602 downstr_intron 7 1.18421052631579 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGATCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 328 41 1 0.996122857564551 0.998061428782276 NA NA 0.997554219360256 0.977567710344448 NA NA 0.00244578063974421 0.0185551472201029 NA 0.987560964852352 NA 0.0105004639299235 NA FALSE NA 0 -0.45 rs192896520 downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 rs192896520 1 T:0.0014 T:0 T:0 NA T:0.0069 T:0 T:0 T:0 T:0.0002 ACC C,T 0.001194 11:66059602 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 splice_region_variant 0.59437 0.20255 0.06514 0.075938 0.300239594141527 0.0711089 0.999459845161211 TRUE 0.000978768 ENSE00000734603_014 ENSE00000734603 014 11 65826936 65827105 + 50 81 39 C A 65827074 1829 139 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCATGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059602 66059603 66059603 downstr_intron 8 1.21052631578947 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACATGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 642 684 1 1 1 NA NA 0.997554219360256 0.977567710344448 NA NA 0.00244578063974421 0.0224322896555516 NA 0.987560964852352 NA 0.0124390351476479 NA FALSE NA 0 -0.525 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA CCT C,A 1.647e-05 11:66059603 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 splice_region_variant 0.58236 0.19295 0.19338 0.075938 0.364292247485363 0.0711089 0.999459845161211 TRUE 4.06121e-06 ENSE00000734603_015 ENSE00000734603 015 11 65826936 65827105 + 50 81 39 T C 65827075 1830 140 GCTGGGCTCCAGGGCCTGCAGGATCCTCTCGGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059603 66059604 66059604 downstr_intron 9 1.23684210526316 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCCGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 16 73 1 1 1 NA NA 0.997554219360256 0.977567710344448 NA NA 0.00244578063974421 0.0224322896555516 NA 0.987560964852352 NA 0.0124390351476479 NA FALSE NA 0 -3.312 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA CTG T,C 1.647e-05 11:66059604 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 intron_variant -0.065524 0.095 0.02405 0.075938 0.472763658505125 0.0622396 0.999459845161211 TRUE 8.12394e-06 ENSE00000734603_016 ENSE00000734603 016 11 65826936 65827105 + 50 81 39 T A 65827083 1831 148 GCTGGGCTCCAGGGCCTGCAGGTTCCTCTCAGGTCTTACCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCCTAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 66059611 66059612 66059612 downstr_intron 17 1.44736842105263 TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGAACCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC mutant NA NA NA NA NA 154 790 1 0.995087731825529 0.997543865912765 NA NA 0.997554219360256 0.977567710344448 NA NA 0.00244578063974421 0.0175200214810809 NA 0.987560964852352 NA 0.00998290106041255 NA FALSE NA 0 -1.273 . downstream_gene_variant MODIFIER SF3B2 HGNC 10769 ENST00000526653 1 NA ATC T,A 8.236e-06 11:66059612 SF3B2 HGNC Symbol protein_coding 18579 ENSG00000087365 ENSE00003628106 intron_variant 0.326973 0.18581 0.16444 0.075938 0.265060510478445 0.0622396 0.999459845161211 TRUE 4.06164e-06 ENSE00000734603_BRK ENSE00000734603 BRK 11 65826936 65827105 + 50 81 39 A,G; T,T NA NA NA GCTGGGCTCCAGGGCCTGCAGGATCCTCTCAGGTCTTGGCTGCTTGAGTTCAGCCACAGTGAAGCGGTTCATTCGGCGCAACTTCTTCTTGGACAGCTTGGGGGCTTCTGGCTTCTTTTCAAAGAACAGAACAATCAGCCCTTTTAAGCAGGACTCAGATGTGAATGAAA 66059464 66059634 NA NA NA NA NA NA TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTTTGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGCCAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC TTTCATTCACATCTGAGTCCTGCTTAAAAGGGCTGATTGTTCTGTTCTAGGAAAAGAAGCCAGAAGCCCCCAAGCTGTCCAAGAAGAAGTTGCGCCGAATGAACCGCTTCACTGTGGCTGAACTCAAGCAGGTAAGACCTGAGAGGATCCTGCAGGCCCTGGAGCCCAGC control NA NA NA NA NA 46 825 0 0 0 NA NA 0.997554219360256 0.977567710344448 NA NA -0.997554219360256 -0.977567710344448 NA 0.987560964852352 NA -0.987560964852352 NA TRUE NA NA NA NA NA NA SF3B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SF3B2 NA NA NA ENSG00000087365 ENSE00003628106 NA NA NA NA NA NA NA 0.999459845161211 TRUE NA ENSE00000736713_000 ENSE00000736713 000 17 48275750 48275919 - 44 72 54 NA NA NA NA NA GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 NA NA NA NA NA NA GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT natural 28 39 0.968215763786555 0.999086410593116 0.983651087189835 626 1462 0.982115150852724 0.987219540021369 0.984667345437046 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 0 0 0 0 0.983651087189835 0.984667345437046 0 0 0 FALSE FALSE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00000736713 NA NA NA NA NA NA NA 0.999999998983348 TRUE NA ENSE00000736713_004 ENSE00000736713 004 17 48275750 48275919 - 44 72 54 C T 48275782 2583 138 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAAGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198420 50198421 50198421 downstr_intron 12 1.27906976744186 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAAGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 51 34 1 1 1 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 0.0127804599786314 0.983651087189835 0.984667345437046 NA 0.0153326545629539 NA FALSE NA 0 -0.058 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA CCT C,T 8.237e-06 17:50198421 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 intron_variant 2.153229 0.51571 0.05835 0.053988 0.98678785019454 0.415095 0.999999998983348 TRUE 4.09813e-06 ENSE00000736713_006 ENSE00000736713 006 17 48275750 48275919 - 44 72 54 C T 48275808 2585 112 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCATGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198446 50198447 50198447 exon -15 0.805555555555556 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCATGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 121 92 1 1 1 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 0.0127804599786314 0.983651087189835 0.984667345437046 NA 0.0153326545629539 NA FALSE NA 0.322 0.982 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs537060488 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 1.647e-05 17:50198447 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 missense_variant 3.578681 0.9242 0.26529 0.631981 0.896732327190809 0 0.999999998983348 TRUE 8.16647e-06 ENSE00000736713_007 ENSE00000736713 007 17 48275750 48275919 - 44 72 54 G A 48275809 2586 111 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCTGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198447 50198448 50198448 exon -16 0.791666666666667 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCTGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 102 43 1 0.964237960817119 0.982118980408559 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 -0.0229815792042498 0.983651087189835 0.984667345437046 NA -0.00254836502848677 NA FALSE NA 0.004 -0.808 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA CGG G,A 1.647e-05 17:50198448 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 synonymous_variant 1.913443 0.87314 0.09297 0.631981 0.846207362295 0 0.999999998983348 TRUE 1.63356e-05 ENSE00000736713_010 ENSE00000736713 010 17 48275750 48275919 - 44 72 54 G A 48275821 2589 99 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACTGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198459 50198460 50198460 exon -28 0.625 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACTGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 30 97 1 0.979804210329889 0.989902105164944 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 -0.00741532969148007 0.983651087189835 0.984667345437046 NA 0.00523475972789811 NA FALSE NA 0 -0.607 NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:50198460 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 synonymous_variant 1.398312 0.77961 0.04867 0.631981 0.843192377979162 0 0.999999998983348 TRUE 4.0825e-05 ENSE00000736713_012 ENSE00000736713 012 17 48275750 48275919 - 44 72 54 A C 48275833 2591 87 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGAGGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198471 50198472 50198472 exon 33 0.458333333333333 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGAGGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 30 686 1 0.952402886229416 0.976201443114708 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 -0.0348166537919525 0.983651087189835 0.984667345437046 NA -0.00846590232233813 NA FALSE NA 0.998 0.494 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs368246367 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 C:0.0002 C:0 CAT A,C 3.295e-05 17:50198472 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 missense_variant 2.657396 0.9318 0.81744 0.631981 0.989928663636121 0 0.999999998983348 TRUE 1.63357e-05 ENSE00000736713_014 ENSE00000736713 014 17 48275750 48275919 - 44 72 54 G T 48275869 2593 51 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTATAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198507 50198508 50198508 upstr_intron -4 -0.0555555555555556 GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTATAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 68 93 1 0.999177351555531 0.999588675777766 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 0.0119578115341626 0.983651087189835 0.984667345437046 NA 0.0149213303407195 NA FALSE NA 0.794 2.18 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AGA G,T 8.238e-06 17:50198508 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 splice_region_variant 1.088616 0.74191 0.38432 0.049104 0.775953413853806 0.325051 0.999999998983348 TRUE 4.17418e-06 ENSE00000736713_015 ENSE00000736713 015 17 48275750 48275919 - 44 72 54 G A 48275895 2594 25 GTCTTCTGCCTTTCAATTCACTGTTCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198533 50198534 50198534 upstr_intron -30 -0.537037037037037 GTCTTCTGCCTTTCAATTCACTGTTCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 133 122 1 0.999687448300169 0.999843724150084 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 0.0124679082788004 0.983651087189835 0.984667345437046 NA 0.0151763787130383 NA FALSE NA 0.007 0.477 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGA G,A 8.259e-06 17:50198534 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 non_coding_transcript_exon_variant 0.385841 0.23595 0.05287 0 0.696973254961306 0.512232 0.999999998983348 TRUE NA ENSE00000736713_016 ENSE00000736713 016 17 48275750 48275919 - 44 72 54 G T 48275901 2595 19 GTCTTCTGCCTTTCAATTAACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198539 50198540 50198540 upstr_intron -36 -0.648148148148148 GTCTTCTGCCTTTCAATTAACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 86 217 1 1 1 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 0.0127804599786314 0.983651087189835 0.984667345437046 NA 0.0153326545629539 NA FALSE NA 0 0.409 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TGA G,T 8.278e-06 17:50198540 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 non_coding_transcript_exon_variant 0.939584 0.19044 0.06749 0 0.820420871574073 0.0779869 0.999999998983348 TRUE NA ENSE00000736713_017 ENSE00000736713 017 17 48275750 48275919 - 44 72 54 A G 48275903 2596 17 GTCTTCTGCCTTTCAACTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198541 50198542 50198542 upstr_intron -38 -0.685185185185185 GTCTTCTGCCTTTCAACTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 134 329 1 1 1 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 0.0127804599786314 0.983651087189835 0.984667345437046 NA 0.0153326545629539 NA FALSE NA 0 -0.075 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AAT A,G 8.29e-06 17:50198542 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 non_coding_transcript_exon_variant 1.073934 0.16556 0.01119 0 0.878255339182471 0.0779869 0.999999998983348 TRUE 4.94829e-06 ENSE00000736713_018 ENSE00000736713 018 17 48275750 48275919 - 44 72 54 A C 48275909 2597 11 GTCTTCTGCCGTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 50198547 50198548 50198548 upstr_intron -44 -0.796296296296296 GTCTTCTGCCGTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT mutant NA NA NA NA NA 34 40 1 1 1 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA 0.0178848491472763 0.0127804599786314 0.983651087189835 0.984667345437046 NA 0.0153326545629539 NA FALSE NA 0.001 0.192 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs202224757 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AAG A,C 2.495e-05 17:50198548 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00000736713 non_coding_transcript_exon_variant 0.456242 0.28752 0.16409 0 0.836790851848884 0.0779869 0.999999998983348 TRUE 2.08906e-05 ENSE00000736713_BRK ENSE00000736713 BRK 17 48275750 48275919 - 44 72 54 A,G; T,T NA NA NA GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTTTAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGCCGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT 50198388 50198558 NA NA NA NA NA NA GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTTTAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGCCGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT GTCTTCTGCCTTTCAATTCACTGTCCTCACTCTGACTTCTCTTGTTTGTTCTAGAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATGGTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGT control NA NA NA NA NA 100 42 0.920065163316234 0.859339512090358 0.889702337703296 0.968215763786555 0.999086410593116 0.982115150852724 0.987219540021369 NA NA -0.0620499875364896 -0.12788002793101 0.983651087189835 0.984667345437046 NA -0.0949650077337499 NA FALSE NA NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00000736713 NA NA NA NA NA NA NA 0.999999998983348 TRUE NA ENSE00000736847_000 ENSE00000736847 000 17 48264792 48264961 - 53 54 63 NA NA NA NA NA CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 NA NA NA NA NA NA CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC natural 144 273 0.853644443054586 0.876945310258217 0.865294876656401 2715 1712 0.957135131681283 0.974557154973526 0.965846143327405 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 0 0 0 0 0.865294876656401 0.965846143327405 0 0 0 FALSE FALSE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00003432012 NA NA NA NA NA NA NA 0.999999998983348 TRUE NA ENSE00000736847_001 ENSE00000736847 001 17 48264792 48264961 - 53 54 63 C T 48264815 2381 147 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTAAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187453 50187454 50187454 downstr_intron 30 1.57692307692308 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTAAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant NA NA NA NA NA 793 1184 0.999844208770867 0.999732757606826 0.999788483188846 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 NA NA 0.0427090770895836 0.0251756026332998 0.865294876656401 0.965846143327405 NA 0.0339423398614417 NA FALSE NA 0 -1.063 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 1 NA TCA C,T 8.237e-06 17:50187454 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 intron_variant 0.637814 0.21156 0.11003 0.106106 0.733820310051549 0.0677293 0.999999998983348 TRUE 4.07515e-06 ENSE00000736847_002 ENSE00000736847 002 17 48264792 48264961 - 53 54 63 G A 48264823 2382 139 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCTTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187461 50187462 50187462 downstr_intron 22 1.42307692307692 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCTTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant NA NA NA NA NA 456 65 0.96572586115756 0.947603922188222 0.956664891672891 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 NA NA 0.00859072947627726 -0.0269532327853048 0.865294876656401 0.965846143327405 NA -0.00918125165451378 NA FALSE NA 0 -0.131 rs59595116 downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 rs59595116 1 A:0.0074 A:0.0265 A:0.0029 NA A:0 A:0 A:0 A:0.0157 A:0 AGG G,A 0.001408 17:50187462 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 intron_variant 1.13352 0.22707 0.07563 0.106106 0.778472352335958 0.0677293 0.999999998983348 TRUE 0.00115163 ENSE00000736847_003 ENSE00000736847 003 17 48264792 48264961 - 53 54 63 G T 48264828 2383 134 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTATCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187466 50187467 50187467 downstr_intron 17 1.32692307692308 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTATCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant NA NA NA NA NA 1758 575 0.995757164862958 0.947054082064215 0.971405623463587 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 NA NA 0.0386220331816748 -0.0275030729093112 0.865294876656401 0.965846143327405 NA 0.00555948013618179 NA FALSE NA 0 -1.661 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 1 NA AGA G,T 8.236e-06 17:50187467 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 intron_variant 0.877272 0.1134 0.00476 0.106106 0.850428831766423 0.0861276 0.999999998983348 TRUE 4.06716e-06 ENSE00000736847_004 ENSE00000736847 004 17 48264792 48264961 - 53 54 63 G A 48264833 2384 129 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCTTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187471 50187472 50187472 downstr_intron 12 1.23076923076923 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCTTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant NA NA NA NA NA 19 1100 0.929464277458788 0.977430190549326 0.953447234004057 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 NA NA -0.0276708542224953 0.00287303557579965 0.865294876656401 0.965846143327405 NA -0.0123989093233478 NA FALSE NA 0 0.127 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 rs538187447 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G,A 8.236e-06 17:50187472 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 intron_variant 1.674078 0.26516 0.03604 0.106106 0.842152146380153 0.23925 0.999999998983348 TRUE 4.0659e-06 ENSE00000736847_007 ENSE00000736847 007 17 48264792 48264961 - 53 54 63 G A 48264866 2387 96 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCTTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187504 50187505 50187505 exon -22 0.611111111111111 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCTTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant NA NA NA NA NA 169 122 0.989302159524741 0.998701448442111 0.994001803983426 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 NA NA 0.0321670278434583 0.0241442934685845 0.865294876656401 0.965846143327405 NA 0.0281556606560214 NA FALSE NA 0.101 0.004 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 rs72656313&CD941649 1 NA AGG G,A 1.647e-05 17:50187505 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 synonymous_variant 1.226577 0.89597 0.10615 0.706548 0.863947232731507 0 0.999999998983348 TRUE 4.06425e-06 ENSE00000736847_010 ENSE00000736847 010 17 48264792 48264961 - 53 54 63 A C 48264895 2390 67 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCGCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187533 50187534 50187534 exon 4 0.0740740740740741 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCGCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant NA NA NA NA NA 175 73 0.837995501965068 0.95 0.893997750982534 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 NA NA -0.119139629716216 -0.0245571549735265 0.865294876656401 0.965846143327405 NA -0.071848392344871 NA FALSE NA 0.964 0.493 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 1 NA GAG A,C 8.237e-06 17:50187534 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 missense_variant 1.254022 0.93009 0.79622 0.706548 0.983298436814524 0 0.999999998983348 TRUE 4.06686e-06 ENSE00000736847_011 ENSE00000736847 011 17 48264792 48264961 - 53 54 63 A T 48264912 2391 50 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTAATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187550 50187551 50187551 upstr_intron -14 -0.206349206349206 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTAATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant 90 69 0.85 0.85 0.85 117 274 0.8 0.8 0.8 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 -0.003644443054586 -0.0269453102582169 -0.157135131681283 -0.174557154973526 0.865294876656401 0.965846143327405 -0.0152948766564014 -0.165846143327405 0.150551266671003 FALSE FALSE 0 0.146 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 1 NA TAA A,T 8.237e-06 17:50187551 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 intron_variant -0.249493 0.23416 0.30548 0.156188 0.647687534122079 0.131342 0.999999998983348 TRUE 4.07339e-06 ENSE00000736847_012 ENSE00000736847 012 17 48264792 48264961 - 53 54 63 G A 48264919 2392 43 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGTCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187557 50187558 50187558 upstr_intron -21 -0.317460317460317 CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGTCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant NA NA NA NA NA 1064 313 0.950779327181842 0.9968894724803 0.973834399831071 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 NA NA -0.00635580449944118 0.022332317506774 0.865294876656401 0.965846143327405 NA 0.00798825650366641 NA FALSE NA 0 -0.021 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 1 NA GGC G,A 8.237e-06 17:50187558 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 intron_variant 0.3235 0.23931 0.07715 0.156188 0.544066890441326 0.19362 0.999999998983348 TRUE 8.16033e-06 ENSE00000736847_014 ENSE00000736847 014 17 48264792 48264961 - 53 54 63 C A 48264931 2394 31 CAGGCCCTCAGGCTACATTTGACGCTCACTTGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC 50187430 50187600 50187569 50187570 50187570 upstr_intron -33 -0.507936507936508 CAGGCCCTCAGGCTACATTTGACGCTCACTTGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC CAGGCCCTCAGGCTACATTTGACGCTCACTGGGCCTGAACTGCCTTTTTTATCTGTCCTTCAGGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCCCCGAGTAAGTCATGCCTTCTCTCTCCTCTTCCTGAGCCCCAAGCCCAGGCTCACCTC mutant NA NA NA NA NA 304 162 0.988938787781893 0.991330475692753 0.990134631737323 0.853644443054586 0.876945310258217 0.957135131681283 0.974557154973526 NA NA 0.0318036561006094 0.0167733207192267 0.865294876656401 0.965846143327405 NA 0.024288488409918 NA FALSE NA 0 -0.337 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000511732 1 NA CCA C,A 2.471e-05 17:50187570 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003432012 intron_variant 0.579444 0.22036 0.18955 0.106106 0.731828935449831 0.107646 0.999999998983348 TRUE 8.22186e-06 ENSE00000737913_000 ENSE00000737913 000 11 70003000 70003169 + 53 75 42 NA NA NA NA NA GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 NA NA NA NA NA NA GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC natural 292 158 0.967262005082387 0.993988103796711 0.980625054439549 5533 7547 0.895168313949494 0.918699047152526 0.90693368055101 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 0 0 0 0 0.980625054439549 0.90693368055101 0 0 0 FALSE FALSE NA NA NA NA NA ANO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANO1 NA NA NA ENSG00000131620 ENSE00000737913 NA NA NA NA NA NA NA 0.993084640132559 TRUE NA ENSE00000737913_001 ENSE00000737913 001 11 70003000 70003169 + 53 75 42 C T 70003010 1933 11 GATGTCTCATTGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 70156903 70156904 70156904 upstr_intron -43 -0.792452830188679 GATGTCTCATTGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 272 274 0.997244357527684 1 0.998622178763842 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.10207604357819 0.0813009528474739 0.980625054439549 0.90693368055101 NA 0.091688498212832 NA FALSE NA 0 -0.25 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000531349 9/19 1 NA TCG C,T 8.25e-06 11:70156904 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 intron_variant 0.477059 0.10458 0.00465 0.061011 0.625242336616011 0.0800867 0.993084640132559 TRUE NA ENSE00000737913_002 ENSE00000737913 002 11 70003000 70003169 + 53 75 42 G A 70003011 1934 12 GTTTCCCCTGACTTCGTCTGGCCTTAACCTTCTGGAACTTACCATGAAGATGATGGAGACCAAGTTAGTGAGGTAGGCTGGGAACCGATCTCTCCATGTCAGCTTCACTTTGTCAGTCTACAACACAAAACAATGCCGGTCACTGTCTGGAACCATCATGATGAGACATC 70156893 70157063 70156904 70156905 70156905 upstr_intron -42 -0.773584905660377 GATGTCTCATCATGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 173 229 1 0.990166057124668 0.995083028562334 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.104831686050506 0.0714670099721414 0.980625054439549 0.90693368055101 NA 0.0881493480113238 NA FALSE NA 0 -2.728 NA NA NA ANO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:70156905 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 intron_variant -0.321287 0.07255 0.01014 0.061011 0.677853934036794 0.0800867 0.993084640132559 TRUE 7.62531e-05 ENSE00000737913_005 ENSE00000737913 005 11 70003000 70003169 + 53 75 42 A G 70003022 1937 23 GATGTCTCATCGTGATGGTTCCGGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 70156915 70156916 70156916 upstr_intron -31 -0.566037735849057 GATGTCTCATCGTGATGGTTCCGGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 1839 53 0.995660656337524 0.997004180566592 0.996332418452058 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.10049234238803 0.078305133414066 0.980625054439549 0.90693368055101 NA 0.0893987379010481 NA FALSE NA 0.001 -0.034 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000531349 9/19 rs555214740 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAG A,G 8.25e-06 11:70156916 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 intron_variant -0.052385 0.22581 0.01513 0.061011 0.597510200696036 0.133426 0.993084640132559 TRUE NA ENSE00000737913_007 ENSE00000737913 007 11 70003000 70003169 + 53 75 42 C T 70003025 1939 26 GATGTCTCATCGTGATGGTTCCAGATAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 70156918 70156919 70156919 upstr_intron -28 -0.509433962264151 GATGTCTCATCGTGATGGTTCCAGATAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 131 462 1 0.802532066286874 0.901266033143437 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.104831686050506 -0.116166980865652 0.980625054439549 0.90693368055101 NA -0.00566764740757314 NA FALSE NA 0 -1.508 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000531349 9/19 1 NA ACA C,T 0.0001073 11:70156919 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 intron_variant 0.083378 0.15395 0.01374 0.061011 0.638400463246607 0.133426 0.993084640132559 TRUE 6.60955e-05 ENSE00000737913_010 ENSE00000737913 010 11 70003000 70003169 + 53 75 42 T C 70003043 1942 44 GTTTCCCCTGACTTCGTCTGGCCTTAACCTTCTGGAACTTACCATGAAGATGATGGAGACCAAGTTAGTGAGGTAGGCTGGGAACCGATCTCTCCATGTCAGCTTCACTTTGTCAGTCTACAACACGAAACAATGCCGGTCACTGTCTGGAACCATCACGATGAGACATC 70156893 70157063 70156936 70156937 70156937 upstr_intron -10 -0.169811320754717 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTCGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 109 24 1 1 1 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.104831686050506 0.0813009528474739 0.980625054439549 0.90693368055101 NA 0.09306631944899 NA FALSE NA 0 -0.636 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000531349 9/19 rs534637227 1 C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 TTG T,C 1.65e-05 11:70156937 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 intron_variant -0.128595 0.23151 0.01037 0.080785 0.563466002584478 0.133289 0.993084640132559 TRUE 8.16147e-06 ENSE00000737913_012 ENSE00000737913 012 11 70003000 70003169 + 53 75 42 A C 70003053 1944 54 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGCCTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 70156946 70156947 70156947 exon 1 0.0133333333333333 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGCCTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant 14 14 1 1 1 NA NA NA NA NA 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 0.0327379949176131 0.00601189620328857 NA NA 0.980625054439549 0.90693368055101 0.0193749455604508 NA NA NA FALSE 0.995 2.653 . missense_variant&splice_region_variant MODERATE ANO1 HGNC 21625 ENST00000531349 10/20 1 tolerated(0.16) benign(0.033) NA GAC A,C 4.126e-05 11:70156947 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 missense_variant 3.54643 0.98342 0.8849 0.660377 0.991388070359736 0 0.993084640132559 TRUE 3.25959e-05 ENSE00000737913_013 ENSE00000737913 013 11 70003000 70003169 + 53 75 42 C A 70003054 1945 55 GTTTCCCCTGACTTCGTCTGGCCTTAACCTTCTGGAACTTACCATGAAGATGATGGAGACCAAGTTAGTGAGGTAGGCTGGGAACCGATCTCTCCATGTCAGCTTCACTTTGTCATTCTACAACACAAAACAATGCCGGTCACTGTCTGGAACCATCACGATGAGACATC 70156893 70157063 70156947 70156948 70156948 exon 2 0.0266666666666667 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGAATGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 238 321 0.999355511811352 1 0.999677755905676 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.104187197861858 0.0813009528474739 0.980625054439549 0.90693368055101 NA 0.0927440753546659 NA FALSE NA 0.743 3.103 . missense_variant&splice_region_variant MODERATE ANO1 HGNC 21625 ENST00000531349 10/20 1 tolerated(0.3) benign(0.405) NA ACT C,A 8.252e-06 11:70156948 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 missense_variant 3.594218 0.97005 0.85812 0.660377 0.945301702955564 0 0.993084640132559 TRUE 4.07458e-06 ENSE00000737913_015 ENSE00000737913 015 11 70003000 70003169 + 53 75 42 C T 70003088 1947 89 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTTCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 70156981 70156982 70156982 exon 36 0.48 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTTCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 1148 174 0.910558407940192 1 0.955279203970096 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.0153900939906987 0.0813009528474739 0.980625054439549 0.90693368055101 NA 0.0483455234190863 NA FALSE NA 1 1.152 . synonymous_variant LOW ANO1 HGNC 21625 ENST00000531349 10/20 1 NA TCC C,T 8.262e-06 11:70156982 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 synonymous_variant 1.997602 0.97646 0.69555 0.660377 0.784349013037293 0 0.993084640132559 TRUE 8.14014e-06 ENSE00000737913_016 ENSE00000737913 016 11 70003000 70003169 + 53 75 42 G A 70003109 1948 110 GTTTCCCCTGACTTCGTCTGGCCTTAACCTTCTGGAACTTACCATGAAGATGATGGAGACTAAGTTAGTGAGGTAGGCTGGGAACCGATCTCTCCATGTCAGCTTCACTTTGTCAGTCTACAACACAAAACAATGCCGGTCACTGTCTGGAACCATCACGATGAGACATC 70156893 70157063 70157002 70157003 70157003 exon -19 0.76 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTAGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 29 247 0.952079363482868 0.911500130985399 0.931789747234134 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.0569110495333747 -0.00719891616712676 0.980625054439549 0.90693368055101 NA 0.024856066683124 NA FALSE NA 0.992 0.401 . synonymous_variant LOW ANO1 HGNC 21625 ENST00000531349 10/20 1 NA TGG G,A 8.267e-06 11:70157003 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 synonymous_variant 0.588293 0.93152 0.72837 0.660377 0.730335706928332 0 0.993084640132559 TRUE 1.22335e-05 ENSE00000737913_017 ENSE00000737913 017 11 70003000 70003169 + 53 75 42 C T 70003114 1949 115 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTTCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 70157007 70157008 70157008 exon -14 0.826666666666667 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTTCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant 23 19 0.825794711841088 0.943361153501937 0.884577932671513 487 25 0.996838259673098 1 0.998419129836549 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 -0.141467293241299 -0.0506269502947742 0.101669945723604 0.0813009528474739 0.980625054439549 0.90693368055101 -0.0960471217680364 0.0914854492855391 0.187532571053576 FALSE FALSE 0.998 2.127 . missense_variant MODERATE ANO1 HGNC 21625 ENST00000531349 10/20 1 tolerated(0.46) possibly_damaging(0.675) NA TCC C,T 1.654e-05 11:70157008 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 missense_variant 6.217945 0.9856 0.74482 0.660377 0.99693734814977 0 0.993084640132559 TRUE 1.22474e-05 ENSE00000737913_018 ENSE00000737913 018 11 70003000 70003169 + 53 75 42 A G 70003116 1950 117 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCGTCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 70157009 70157010 70157010 exon -12 0.853333333333333 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCGTCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 691 613 1 0.820481626081593 0.910240813040797 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.104831686050506 -0.0982174210709327 0.980625054439549 0.90693368055101 NA 0.00330713248978676 NA FALSE NA 1 7.087 . missense_variant MODERATE ANO1 HGNC 21625 ENST00000531349 10/20 1 tolerated(0.49) benign(0.386) NA CAT A,G 1.654e-05 11:70157010 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 missense_variant 3.409522 0.98983 0.98495 0.660377 0.850980779296597 0 0.993084640132559 TRUE 2.44988e-05 ENSE00000737913_019 ENSE00000737913 019 11 70003000 70003169 + 53 75 42 C T 70003154 1951 155 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGATGAAGTCAGGGGAAAC 70156893 70157063 70157047 70157048 70157048 downstr_intron 27 1.65853658536585 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGATGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 197 255 0.998528450098299 0.992269833602161 0.99539914185023 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.103360136148805 0.0735707864496351 0.980625054439549 0.90693368055101 NA 0.0884654612992201 NA FALSE NA 0 -1.29 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000531349 10/19 rs374501035 1 NA T:0.0003 T:0.0007 ACG C,T 0.0003724 11:70157048 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 intron_variant 0.254471 0.20753 0.00245 0.061011 0.621497610637992 0.051768 0.993084640132559 TRUE 0.000385756 ENSE00000737913_020 ENSE00000737913 020 11 70003000 70003169 + 53 75 42 G A 70003155 1952 156 GTTTCCCCTGACTTTGTCTGGCCTTAACCTTCTGGAACTTACCATGAAGATGATGGAGACCAAGTTAGTGAGGTAGGCTGGGAACCGATCTCTCCATGTCAGCTTCACTTTGTCAGTCTACAACACAAAACAATGCCGGTCACTGTCTGGAACCATCACGATGAGACATC 70156893 70157063 70157048 70157049 70157049 downstr_intron 28 1.68292682926829 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACAAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 84 113 1 0.958669089685581 0.97933454484279 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.104831686050506 0.0399700425330545 0.980625054439549 0.90693368055101 NA 0.0724008642917803 NA FALSE NA 0 0.264 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000531349 10/19 1 NA CGA G,A 8.278e-06 11:70157049 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 intron_variant 0.303442 0.1834 0.03042 0.061011 0.786739017642602 0.051768 0.993084640132559 TRUE NA ENSE00000737913_021 ENSE00000737913 021 11 70003000 70003169 + 53 75 42 T A 70003159 1953 160 GTTTCCCCTGTCTTCGTCTGGCCTTAACCTTCTGGAACTTACCATGAAGATGATGGAGACCAAGTTAGTGAGGTAGGCTGGGAACCGATCTCTCCATGTCAGCTTCACTTTGTCAGTCTACAACACAAAACAATGCCGGTCACTGTCTGGAACCATCACGATGAGACATC 70156893 70157063 70157052 70157053 70157053 downstr_intron 32 1.78048780487805 GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGACAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC mutant NA NA NA NA NA 53 380 1 0.999899787930408 0.999949893965204 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA 0.104831686050506 0.0812007407778816 0.980625054439549 0.90693368055101 NA 0.0930162134141939 NA FALSE NA 0 -1.387 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000531349 10/19 1 NA GTC T,A 8.279e-06 11:70157053 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00000737913 intron_variant 0.226802 0.12498 0.01546 0.061011 0.674713093770251 0.0448019 0.993084640132559 TRUE 2.18331e-05 ENSE00000737913_BRK ENSE00000737913 BRK 11 70003000 70003169 + 53 75 42 A,G; T,T NA NA NA GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTTTACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGCCAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC 70156893 70157063 NA NA NA NA NA NA GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTTTACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGCCAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC GATGTCTCATCGTGATGGTTCCAGACAGTGACCGGCATTGTTTTGTGTTGTAGACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTGGTCTCCATCATCTTCATGGTAAGTTCCAGAAGGTTAAGGCCAGACGAAGTCAGGGGAAAC control NA NA NA NA NA 97 63 0 0 0 0.967262005082387 0.993988103796711 0.895168313949494 0.918699047152526 NA NA -0.895168313949494 -0.918699047152526 0.980625054439549 0.90693368055101 NA -0.90693368055101 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANO1 NA NA NA ENSG00000131620 ENSE00000737913 NA NA NA NA NA NA NA 0.993084640132559 TRUE NA ENSE00000739252_000 ENSE00000739252 000 17 56289688 56289857 - 51 57 62 NA NA NA NA NA AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 NA NA NA NA NA NA AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT natural NA NA NA NA NA 146 878 0.985029583536299 0.992312277579277 0.988670930557788 NA NA 0.985029583536299 0.992312277579277 NA NA 0 0 NA 0.988670930557788 NA 0 NA FALSE NA NA NA NA NA NA MKS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MKS1 NA NA NA ENSG00000011143 ENSE00003681629 NA NA NA NA NA NA NA 3.9743813098665e-09 FALSE NA ENSE00000739252_001 ENSE00000739252 001 17 56289688 56289857 - 51 57 62 C T 56289702 2713 156 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTATTTAGCCGGAGCAT 58212326 58212496 58212340 58212341 58212341 downstr_intron 37 1.74 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTATTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 125 672 0.998675597338716 1 0.999337798669358 NA NA 0.985029583536299 0.992312277579277 NA NA 0.0136460138024167 0.00768772242072258 NA 0.988670930557788 NA 0.0106668681115696 NA FALSE NA 0 -1.37 . intron_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/8 rs564970394 1 NA ACA C,T 2.479e-05 17:58212341 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 intron_variant 0.9413 0.20343 0.04568 0.322412 0.721249631722024 0.110809 3.9743813098665e-09 FALSE 1.21948e-05 ENSE00000739252_003 ENSE00000739252 003 17 56289688 56289857 - 51 57 62 C A 56289709 2715 149 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTTAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212347 58212348 58212348 downstr_intron 30 1.6 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTTAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 654 789 0.998096789239616 1 0.999048394619808 NA NA 0.985029583536299 0.992312277579277 NA NA 0.0130672057033167 0.00768772242072258 NA 0.988670930557788 NA 0.0103774640620196 NA FALSE NA 0 -1.4 . intron_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/8 1 NA TCA C,A 8.272e-06 17:58212348 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 intron_variant 0.928132 0.1706 0.0143 0.322412 0.768361857799089 0.110809 3.9743813098665e-09 FALSE 1.22782e-05 ENSE00000739252_004 ENSE00000739252 004 17 56289688 56289857 - 51 57 62 T G 56289714 2716 144 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCCCTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212352 58212353 58212353 downstr_intron 25 1.5 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCCCTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 31 574 1 0.996406808299762 0.998203404149881 NA NA 0.985029583536299 0.992312277579277 NA NA 0.0149704164637007 0.00409453072048471 NA 0.988670930557788 NA 0.00953247359209269 NA FALSE NA 0 -1.693 . intron_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/8 1 NA GTG T,G 8.314e-06 17:58212353 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 intron_variant 1.592627 0.12857 0.02341 0.322412 0.708637461380227 0.234632 3.9743813098665e-09 FALSE 4.10004e-06 ENSE00000739252_005 ENSE00000739252 005 17 56289688 56289857 - 51 57 62 G A 56289718 2717 140 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGTAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212356 58212357 58212357 downstr_intron 21 1.42 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGTAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 1491 243 0.983088825024654 1 0.991544412512327 NA NA 0.985029583536299 0.992312277579277 NA NA -0.0019407585116451 0.00768772242072258 NA 0.988670930557788 NA 0.00287348195453874 NA FALSE NA 0 0.175 . intron_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/8 1 NA TGC G,A 0.0001408 17:58212357 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 intron_variant 1.587204 0.1821 0.082 0.322412 0.77931245419511 0.234632 3.9743813098665e-09 FALSE 0.000142146 ENSE00000739252_006 ENSE00000739252 006 17 56289688 56289857 - 51 57 62 A G 56289720 2718 138 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCCGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212358 58212359 58212359 downstr_intron 19 1.38 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCCGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 116 111 0.961981538912172 1 0.980990769456086 NA NA 0.985029583536299 0.992312277579277 NA NA -0.0230480446241276 0.00768772242072258 NA 0.988670930557788 NA -0.0076801611017025 NA FALSE NA 0 -0.807 . intron_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/8 rs200080801 1 NA CAG A,G 8.906e-06 17:58212359 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 intron_variant 1.229673 0.21866 0.07299 0.322412 0.606095573765073 0.234632 3.9743813098665e-09 FALSE 4.06171e-06 ENSE00000739252_007 ENSE00000739252 007 17 56289688 56289857 - 51 57 62 A G 56289729 2719 129 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCCTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212367 58212368 58212368 downstr_intron 10 1.2 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCCTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 50 2113 0.964459596141082 0.99128959878631 0.977874597463696 NA NA 0.985029583536299 0.992312277579277 NA NA -0.0205699873952178 -0.0010226787929678 NA 0.988670930557788 NA -0.0107963330940928 NA FALSE NA 0 -0.512 . intron_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/8 1 NA AAG A,G 8.265e-06 17:58212368 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 intron_variant 2.405502 0.12876 0.01006 0.322412 0.653471210868631 0.331078 3.9743813098665e-09 FALSE 4.06085e-06 ENSE00000739252_009 ENSE00000739252 009 17 56289688 56289857 - 51 57 62 A G 56289745 2721 113 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTCGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212383 58212384 58212384 exon -7 0.894736842105263 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTCGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 30 146 1 1 1 NA NA 0.985029583536299 0.992312277579277 NA NA 0.0149704164637007 0.00768772242072258 NA 0.988670930557788 NA 0.0113290694422116 NA FALSE NA 1 3.664 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/9 1 NA CAA A,G 8.266e-06 17:58212384 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 synonymous_variant 1.183351 0.97254 0.9725 0.732398 0.659455396242859 0 3.9743813098665e-09 FALSE 8.12196e-06 ENSE00000739252_011 ENSE00000739252 011 17 56289688 56289857 - 51 57 62 G A 56289751 2723 107 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACTGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212389 58212390 58212390 exon -13 0.789473684210526 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACTGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant 139 187 0.85 0.85 0.85 444 213 0.968256464066681 0.973615853054639 0.97093615856066 NA NA 0.985029583536299 0.992312277579277 NA NA -0.0167731194696179 -0.0186964245246385 NA 0.988670930557788 NA -0.0177347719971282 NA FALSE NA 0 -3.438 rs142805406 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/9 rs142805406 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0015 A:0 CGG G,A 0.0001075 17:58212390 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 synonymous_variant 1.633521 0.12148 0.01408 0.732398 0.688406633199808 0 3.9743813098665e-09 FALSE 8.12189e-05 ENSE00000739252_014 ENSE00000739252 014 17 56289688 56289857 - 51 57 62 G A 56289760 2726 98 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTTGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212398 58212399 58212399 exon -22 0.631578947368421 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTTGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 357 1155 0.998023669907359 0.997018884986056 0.997521277446708 NA NA 0.985029583536299 0.992312277579277 NA NA 0.01299408637106 0.00470660740677897 NA 0.988670930557788 NA 0.0088503468889195 NA FALSE NA 0 -3.502 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/9 1 NA CGA G,A 1.653e-05 17:58212399 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 synonymous_variant 1.418064 0.13075 0.03923 0.732398 0.574340680379251 0 3.9743813098665e-09 FALSE 2.03051e-05 ENSE00000739252_015 ENSE00000739252 015 17 56289688 56289857 - 51 57 62 G A 56289769 2727 89 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTTAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212407 58212408 58212408 exon 27 0.473684210526316 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTTAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 28 235 0.980915747637479 0.972459092744392 0.976687420190935 NA NA 0.985029583536299 0.992312277579277 NA NA -0.00411383589882064 -0.0198531848348851 NA 0.988670930557788 NA -0.0119835103668529 NA FALSE NA 1 0.394 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/9 1 NA TGA G,A 8.266e-06 17:58212408 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 synonymous_variant 1.426948 0.96967 0.92823 0.732398 0.713226366134021 0 3.9743813098665e-09 FALSE 4.06088e-06 ENSE00000739252_018 ENSE00000739252 018 17 56289688 56289857 - 51 57 62 G A 56289786 2730 72 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCTGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212424 58212425 58212425 exon 10 0.175438596491228 AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCTGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant 50 24 0 0 0 NA NA NA NA NA NA NA 0.985029583536299 0.992312277579277 NA NA NA NA NA 0.988670930557788 NA NA NA NA NA 1 6.172 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 7/9 COSM1384670&COSM1384671 1 NA CGG G,A 8.267e-06 17:58212425 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 missense_variant 8.202487 0.9905 0.99311 0.732398 0.999251551475939 0 3.9743813098665e-09 FALSE 3.24873e-05 ENSE00000739252_019 ENSE00000739252 019 17 56289688 56289857 - 51 57 62 T G 56289827 2731 31 AGAACTGAACTTTGGTCTAGCTTGGGTTGCCTCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 58212465 58212466 58212466 upstr_intron -32 -0.5 AGAACTGAACTTTGGTCTAGCTTGGGTTGCCTCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT mutant NA NA NA NA NA 668 26 0.99640308565123 1 0.998201542825615 NA NA 0.985029583536299 0.992312277579277 NA NA 0.0113735021149303 0.00768772242072258 NA 0.988670930557788 NA 0.00953061226782642 NA FALSE NA 0.001 -0.286 . intron_variant&NMD_transcript_variant MODIFIER MKS1 HGNC 7121 ENST00000581761 6/8 rs370957574 1 NA G:0 G:0.0002 ATG T,G 8.261e-05 17:58212466 MKS1 HGNC Symbol protein_coding 14168 ENSG00000011143 ENSE00003681629 intron_variant 1.666269 0.1913 0.06256 0.099367 0.749225556292822 0.214135 3.9743813098665e-09 FALSE 9.74873e-05 ENSE00000739252_BRK ENSE00000739252 BRK 17 56289688 56289857 - 51 57 62 A,G; T,T NA NA NA AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCTTCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGCCGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT 58212326 58212496 NA NA NA NA NA NA AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCTTCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGCCGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT AGAACTGAACTTTGGTCTAGCTTGGGTTGCATCTTGAGTTTTGGTTTGGTTTGTTTCCTCAGCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGGTGAGTAGCTTGGCTTCCTGCAGCACTGTGAGCTGTGTTTAGCCGGAGCAT control 340 122 0.0530723697115076 0 0.0265361848557538 NA NA NA NA NA NA NA 0.985029583536299 0.992312277579277 NA NA NA NA NA 0.988670930557788 NA NA NA NA NA NA NA NA NA NA MKS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MKS1 NA NA NA ENSG00000011143 ENSE00003681629 NA NA NA NA NA NA NA 3.9743813098665e-09 FALSE NA ENSE00000739891_000 ENSE00000739891 000 1 9018925 9019094 + 44 93 33 NA NA NA NA NA ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 NA NA NA NA NA NA ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT natural 44 41 0.997944315276401 0.999873718080063 0.998909016678232 4742 4008 0.956499233870599 0.958500945392949 0.957500089631774 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 0 0 0 0 0.998909016678232 0.957500089631774 0 0 0 FALSE FALSE NA NA NA NA NA CA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA6 NA NA NA ENSG00000131686 ENSE00003642291 NA NA NA NA NA NA NA 0.00802362076493995 FALSE NA ENSE00000739891_002 ENSE00000739891 002 1 9018925 9019094 + 44 93 33 T C 9018963 128 39 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCCTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958903 8958904 8958904 upstr_intron -6 -0.113636363636364 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCCTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 25 147 1 1 1 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0435007661294013 0.0414990546070515 0.998909016678232 0.957500089631774 NA 0.0424999103682264 NA FALSE NA 0 0.111 rs193128677 splice_region_variant&intron_variant LOW CA6 HGNC 1380 ENST00000377436 3/7 rs193128677 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 CTT T,C 9.884e-05 1:8958904 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 splice_region_variant -0.211133 0.20036 0.01303 0.053691 0.631522013297136 0.117093 0.00802362076493995 FALSE 7.41449e-05 ENSE00000739891_003 ENSE00000739891 003 1 9018925 9019094 + 44 93 33 A G 9018969 129 45 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGGTTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958909 8958910 8958910 exon 1 0.010752688172043 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGGTTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 16 41 1 0.996122857564551 0.998061428782276 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0435007661294013 0.0376219121716028 0.998909016678232 0.957500089631774 NA 0.0405613391505021 NA FALSE NA 0.444 -0.242 . missense_variant&splice_region_variant MODERATE CA6 HGNC 1380 ENST00000377436 4/8 1 tolerated(0.11) benign(0.094) NA GAT A,G 8.236e-06 1:8958910 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 missense_variant 0.461395 0.33239 0.04916 0.487112 0.891553595456347 0 0.00802362076493995 FALSE NA ENSE00000739891_004 ENSE00000739891 004 1 9018925 9019094 + 44 93 33 A G 9018985 130 61 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTGCAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958925 8958926 8958926 exon 17 0.182795698924731 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTGCAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant 15 15 1 0.999639757749781 0.99981987887489 449 19 1 1 1 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 0.00205568472359852 -0.00023396033028289 0.0435007661294013 0.0414990546070515 0.998909016678232 0.957500089631774 0.000910862196657813 0.0424999103682264 0.0415890481715686 FALSE FALSE 1 2.536 . missense_variant MODERATE CA6 HGNC 1380 ENST00000377436 4/8 1 deleterious(0) probably_damaging(1) NA TAC A,G 8.236e-06 1:8958926 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 missense_variant 6.148745 0.97847 0.85229 0.487112 0.997071024919109 0 0.00802362076493995 FALSE 4.07451e-06 ENSE00000739891_006 ENSE00000739891 006 1 9018925 9019094 + 44 93 33 A C 9018987 132 63 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACCATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958927 8958928 8958928 exon 19 0.204301075268817 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACCATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 45 28 1 1 1 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0435007661294013 0.0414990546070515 0.998909016678232 0.957500089631774 NA 0.0424999103682264 NA FALSE NA 1 5.388 . missense_variant MODERATE CA6 HGNC 1380 ENST00000377436 4/8 1 deleterious(0.01) possibly_damaging(0.901) NA CAA A,C 8.236e-06 1:8958928 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 missense_variant 5.913227 0.98668 0.95272 0.487112 0.995368893007905 0 0.00802362076493995 FALSE 4.07332e-06 ENSE00000739891_009 ENSE00000739891 009 1 9018925 9019094 + 44 93 33 C T 9019015 135 91 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGTCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958955 8958956 8958956 exon -47 0.505376344086022 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGTCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 511 354 0.998156994287657 0.895350460324706 0.946753727306182 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0416577604170588 -0.0631504850682425 0.998909016678232 0.957500089631774 NA -0.0107463623255918 NA FALSE NA 1 5.941 . missense_variant MODERATE CA6 HGNC 1380 ENST00000377436 4/8 rs201707059 1 deleterious(0) probably_damaging(1) NA GCC C,T 1.647e-05 1:8958956 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 missense_variant 5.798597 0.98874 0.95026 0.487112 0.998841722980543 0 0.00802362076493995 FALSE 8.13603e-06 ENSE00000739891_011 ENSE00000739891 011 1 9018925 9019094 + 44 93 33 G A 9019025 137 101 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCACCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958965 8958966 8958966 exon -37 0.612903225806452 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCACCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 656 351 0.998801921634849 0.963924839485441 0.981363380560145 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0423026877642506 0.00542389409249211 0.998909016678232 0.957500089631774 NA 0.0238632909283714 NA FALSE NA 0 -0.714 NA NA NA CA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:8958966 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 synonymous_variant 0.67767 0.12337 0.00994 0.487112 0.261588107606112 0 0.00802362076493995 FALSE 1.22041e-05 ENSE00000739891_012 ENSE00000739891 012 1 9018925 9019094 + 44 93 33 C T 9019027 138 103 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCTGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958967 8958968 8958968 exon -35 0.634408602150538 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCTGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 116 122 1 1 1 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0435007661294013 0.0414990546070515 0.998909016678232 0.957500089631774 NA 0.0424999103682264 NA FALSE NA 0.007 1.873 rs184168475 missense_variant MODERATE CA6 HGNC 1380 ENST00000377436 4/8 rs184168475 1 deleterious(0.02) benign(0.282) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 CCG C,T 2.471e-05 1:8958968 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 missense_variant 2.877024 0.27146 0.12486 0.487112 0.986640770393171 0 0.00802362076493995 FALSE 2.03378e-05 ENSE00000739891_013 ENSE00000739891 013 1 9018925 9019094 + 44 93 33 G A 9019028 139 104 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCAGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958968 8958969 8958969 exon -34 0.645161290322581 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCAGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 26 688 1 0.998033604548867 0.999016802274434 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0435007661294013 0.039532659155919 0.998909016678232 0.957500089631774 NA 0.0415167126426602 NA FALSE NA 0 -8.929 . synonymous_variant LOW CA6 HGNC 1380 ENST00000377436 4/8 rs377747220 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 0.0001071 1:8958969 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 synonymous_variant 0.715108 0.0735 0.00301 0.487112 0.336269370387353 0 0.00802362076493995 FALSE 0.000154583 ENSE00000739891_016 ENSE00000739891 016 1 9018925 9019094 + 44 93 33 G A 9019056 142 132 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCATTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8958996 8958997 8958997 exon -6 0.946236559139785 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCATTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 281 1066 0.996431200380773 1 0.998215600190386 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0399319665101741 0.0414990546070515 0.998909016678232 0.957500089631774 NA 0.0407155105586128 NA FALSE NA 0 -0.828 . missense_variant MODERATE CA6 HGNC 1380 ENST00000377436 4/8 rs374026757 1 tolerated(1) benign(0.037) NA A:0.0002 A:0 CGT G,A 1.647e-05 1:8958997 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 missense_variant -1.221179 0.17042 0.01542 0.487112 0.271048837709992 0 0.00802362076493995 FALSE 2.84944e-05 ENSE00000739891_017 ENSE00000739891 017 1 9018925 9019094 + 44 93 33 A C 9019064 143 140 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTCAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 8959004 8959005 8959005 downstr_intron 3 1.09375 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTCAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant 43 25 0 0 0 NA NA NA NA NA 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 -0.997944315276401 -0.999873718080063 NA NA 0.998909016678232 0.957500089631774 -0.998909016678232 NA NA NA TRUE 1 3.39 . splice_region_variant&intron_variant LOW CA6 HGNC 1380 ENST00000377436 4/7 1 NA TAA A,C 1.647e-05 1:8959005 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 splice_region_variant 0.625155 0.97805 0.91603 0.053691 0.797986230927636 0.734907 0.00802362076493995 FALSE 2.03585e-05 ENSE00000739891_020 ENSE00000739891 020 1 9018925 9019094 + 44 93 33 A G 9019079 146 155 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCGTGTGTGTCTGTATTT 8958865 8959035 8959019 8959020 8959020 downstr_intron 18 1.5625 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCGTGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 331 121 0.994397068217398 1 0.997198534108699 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0378978343467995 0.0414990546070515 0.998909016678232 0.957500089631774 NA 0.0396984444769255 NA FALSE NA 0 -0.649 . intron_variant MODIFIER CA6 HGNC 1380 ENST00000377436 4/7 1 NA CAT A,G 1.647e-05 1:8959020 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 intron_variant -0.212921 0.13528 0.01757 0.053691 0.252630242159374 0.0511418 0.00802362076493995 FALSE 8.17782e-06 ENSE00000739891_021 ENSE00000739891 021 1 9018925 9019094 + 44 93 33 G A 9019083 147 159 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTATGTCTGTATTT 8958865 8959035 8959023 8959024 8959024 downstr_intron 22 1.6875 ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTATGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT mutant NA NA NA NA NA 165 68 0.997733402339765 0.997667062836956 0.99770023258836 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 NA NA 0.0412341684691664 0.0391661174440073 0.998909016678232 0.957500089631774 NA 0.0402001429565869 NA FALSE NA 0 0.146 rs187398396 intron_variant MODIFIER CA6 HGNC 1380 ENST00000377436 4/7 rs187398396 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 TGT G,A 0.0001318 1:8959024 CA6 HGNC Symbol protein_coding 29225 ENSG00000131686 ENSE00003642291 intron_variant 0.084483 0.16153 0.04748 0.053691 0.587817064813777 0.0511418 0.00802362076493995 FALSE 8.21382e-05 ENSE00000739891_BRK ENSE00000739891 BRK 1 9018925 9019094 + 44 93 33 A,G; T,T NA NA NA ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACTTATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGCCAAGCAGAAACTACCCATGTGTGTCTGTATTT 8958865 8959035 NA NA NA NA NA NA ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACTTATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGCCAAGCAGAAACTACCCATGTGTGTCTGTATTT ATTTCTATGAACTGCCCTTGACCCACTCTACCTTGCTCTTACAGATTCACATTGTTCACTACAATTCTAAATACAAGAGCTATGATATAGCCCAAGATGCGCCGGATGGTTTGGCTGTACTGGCAGCCTTCGTTGAGGTAAGCAGAAACTACCCATGTGTGTCTGTATTT control 153 49 0 0.0133333190591881 0.00666665952959407 24 532 0 0.0225498743645951 0.0112749371822976 0.997944315276401 0.999873718080063 0.956499233870599 0.958500945392949 -0.997944315276401 -0.986540399020875 -0.956499233870599 -0.935951071028353 0.998909016678232 0.957500089631774 -0.992242357148638 -0.946225152449476 0.0460172046991624 TRUE TRUE NA NA NA NA NA CA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA6 NA NA NA ENSG00000131686 ENSE00003642291 NA NA NA NA NA NA NA 0.00802362076493995 FALSE NA ENSE00000741171_000 ENSE00000741171 000 6 33627195 33627364 + 48 84 38 NA NA NA NA NA AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 NA NA NA NA NA NA AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC natural 44 160 0.930900337934887 0.826774701227685 0.878837519581286 1212 2298 0.912569466407134 0.914036519422997 0.913302992915065 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 0 0 0 0 0.878837519581286 0.913302992915065 0 0 0 FALSE FALSE NA NA NA NA NA ITPR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR3 NA NA NA ENSG00000096433 ENSE00000741171 NA NA NA NA NA NA NA 4.97536705049387e-12 FALSE NA ENSE00000741171_001 ENSE00000741171 001 6 33627195 33627364 + 48 84 38 G A 33627216 965 22 AGTGGCTGGGGTCCACCTGGCATCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659438 33659439 33659439 upstr_intron -27 -0.541666666666667 AGTGGCTGGGGTCCACCTGGCATCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 308 1811 0.954726840267243 0.993708239459419 0.974217539863331 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0421573738601093 0.0796717200364221 0.878837519581286 0.913302992915065 NA 0.0609145469482657 NA FALSE NA 0 -3.991 . intron_variant MODIFIER ITPR3 HGNC 6182 ENST00000374316 7/58 rs376062413 1 NA A:0 A:0.0002 CGT G,A 8.237e-05 6:33659439 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 intron_variant -0.263942 0.12398 0.01404 0.160901 0.46440865383405 0.0555503 4.97536705049387e-12 FALSE 0.000151634 ENSE00000741171_002 ENSE00000741171 002 6 33627195 33627364 + 48 84 38 C T 33627220 966 26 AGTGGCTGGGGTCCACCTGGCGTCATGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659442 33659443 33659443 upstr_intron -23 -0.458333333333333 AGTGGCTGGGGTCCACCTGGCGTCATGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 142 174 0.987478014603465 0.988761029383058 0.988119521993261 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0749085481963312 0.0747245099600607 0.878837519581286 0.913302992915065 NA 0.074816529078196 NA FALSE NA 0 -4.749 . intron_variant MODIFIER ITPR3 HGNC 6182 ENST00000374316 7/58 1 NA ACG C,T 8.237e-06 6:33659443 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 intron_variant -0.402081 0.09195 0.00667 0.160901 0.499653505291237 0.0555503 4.97536705049387e-12 FALSE 4.0836e-05 ENSE00000741171_003 ENSE00000741171 003 6 33627195 33627364 + 48 84 38 G A 33627221 967 27 AGTGGCTGGGGTCCACCTGGCGTCACAGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659443 33659444 33659444 upstr_intron -22 -0.4375 AGTGGCTGGGGTCCACCTGGCGTCACAGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 549 201 0.999474090870707 0.996319501609462 0.997896796240084 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0869046244635729 0.082282982186465 0.878837519581286 0.913302992915065 NA 0.084593803325019 NA FALSE NA 0 -0.319 . intron_variant MODIFIER ITPR3 HGNC 6182 ENST00000374316 7/58 rs375940111 1 NA A:0.0002 A:0 CGG G,A 1.647e-05 6:33659444 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 intron_variant -0.213022 0.2032 0.02207 0.160901 0.499247047509818 0.0555503 4.97536705049387e-12 FALSE 2.4474e-05 ENSE00000741171_004 ENSE00000741171 004 6 33627195 33627364 + 48 84 38 C T 33627238 968 44 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCTGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659460 33659461 33659461 upstr_intron -5 -0.0833333333333333 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCTGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 1699 899 0.991576593327931 0.993568761555911 0.992572677441921 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0790071269207971 0.0795322421329143 0.878837519581286 0.913302992915065 NA 0.0792696845268557 NA FALSE NA 0 0.159 rs147723375 splice_region_variant&intron_variant LOW ITPR3 HGNC 6182 ENST00000374316 7/58 rs147723375 1 T:0.0032 T:0.0076 T:0.0058 NA T:0 T:0 T:0.002 T:0.0102 T:0.0001 CCG C,T 0.001441 6:33659461 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 splice_region_variant 0.367051 0.24165 0.02746 0.283894 0.434343066004794 0.0957947 4.97536705049387e-12 FALSE 0.00121546 ENSE00000741171_005 ENSE00000741171 005 6 33627195 33627364 + 48 84 38 G A 33627239 969 45 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCACAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659461 33659462 33659462 upstr_intron -4 -0.0625 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCACAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 708 153 0.999241898303463 0.968405374623327 0.983823636463395 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0866724318963297 0.0543688552003295 0.878837519581286 0.913302992915065 NA 0.0705206435483296 NA FALSE NA 0 -2.626 . splice_region_variant&intron_variant LOW ITPR3 HGNC 6182 ENST00000374316 7/58 1 NA CGC G,A 0.0002471 6:33659462 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 splice_region_variant -0.100194 0.22199 0.05576 0.283894 0.525196262435696 0.0638136 4.97536705049387e-12 FALSE 0.000195105 ENSE00000741171_006 ENSE00000741171 006 6 33627195 33627364 + 48 84 38 G T 33627254 970 60 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTTAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659476 33659477 33659477 exon 12 0.142857142857143 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTTAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 181 15 0.807982779686034 0.8 0.803991389843017 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA -0.1045866867211 -0.114036519422997 0.878837519581286 0.913302992915065 NA -0.109311603072049 NA FALSE NA 1 1.454 . synonymous_variant LOW ITPR3 HGNC 6182 ENST00000374316 8/59 rs549788742 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TGA G,T 8.236e-06 6:33659477 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 synonymous_variant 0.890248 0.97441 0.90856 0.706548 0.783897036301859 0 4.97536705049387e-12 FALSE 4.06217e-06 ENSE00000741171_009 ENSE00000741171 009 6 33627195 33627364 + 48 84 38 A C 33627279 973 85 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCCACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659501 33659502 33659502 exon 37 0.44047619047619 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCCACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 66 413 0.933509398997299 0.8 0.86675469949865 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0209399325901657 -0.114036519422997 0.878837519581286 0.913302992915065 NA -0.0465482934164156 NA FALSE NA 1 4.433 . missense_variant MODERATE ITPR3 HGNC 6182 ENST00000374316 8/59 1 tolerated(0.47) probably_damaging(0.971) NA CAA A,C 7.413e-05 6:33659502 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 missense_variant 3.377325 0.98536 0.96254 0.706548 0.9967890083593 0 4.97536705049387e-12 FALSE 6.49783e-05 ENSE00000741171_011 ENSE00000741171 011 6 33627195 33627364 + 48 84 38 C T 33627297 975 103 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTTGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659519 33659520 33659520 exon -30 0.654761904761905 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTTGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 55 497 0.876311608035623 0.84764342385079 0.861977515943206 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA -0.0362578583715111 -0.0663930955722069 0.878837519581286 0.913302992915065 NA -0.051325476971859 NA FALSE NA 1 2.277 . missense_variant MODERATE ITPR3 HGNC 6182 ENST00000374316 8/59 1 deleterious(0.01) possibly_damaging(0.846) NA TCG C,T 1.647e-05 6:33659520 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 missense_variant 7.580896 0.98573 0.89289 0.706548 0.999150533144302 0 4.97536705049387e-12 FALSE 8.12288e-06 ENSE00000741171_013 ENSE00000741171 013 6 33627195 33627364 + 48 84 38 C G 33627305 977 111 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCAGCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659527 33659528 33659528 exon -22 0.75 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCAGCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 68 454 0.830374185647121 0.8771297522784 0.85375196896276 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA -0.0821952807600127 -0.0369067671445975 0.878837519581286 0.913302992915065 NA -0.0595510239523051 NA FALSE NA 1 4.066 . missense_variant MODERATE ITPR3 HGNC 6182 ENST00000374316 8/59 1 deleterious(0.01) possibly_damaging(0.811) NA ACC C,G 8.236e-06 6:33659528 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 missense_variant 5.528011 0.9894 0.98164 0.706548 0.993386513056938 0 4.97536705049387e-12 FALSE 4.06147e-06 ENSE00000741171_014 ENSE00000741171 014 6 33627195 33627364 + 48 84 38 G A 33627314 978 120 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAAGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659536 33659537 33659537 exon -13 0.857142857142857 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAAGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 3474 95 0.985539018926642 0.998331571749038 0.99193529533784 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0729695525195085 0.0842950523260405 0.878837519581286 0.913302992915065 NA 0.0786323024227745 NA FALSE NA 0.982 0.243 rs145088908 synonymous_variant LOW ITPR3 HGNC 6182 ENST00000374316 8/59 rs145088908 1 NA A:0 A:0.0001 AGG G,A 4.942e-05 6:33659537 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 synonymous_variant 0.870781 0.97181 0.76531 0.706548 0.589297199451957 0 4.97536705049387e-12 FALSE 4.4682e-05 ENSE00000741171_015 ENSE00000741171 015 6 33627195 33627364 + 48 84 38 G T 33627315 979 121 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGTTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659537 33659538 33659538 exon -12 0.869047619047619 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGTTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 809 46 0.999336813744225 1 0.999668406872113 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0867673473370915 0.085963480577003 0.878837519581286 0.913302992915065 NA 0.0863654139570472 NA FALSE NA 1 5.072 . missense_variant MODERATE ITPR3 HGNC 6182 ENST00000374316 8/59 1 deleterious(0.02) benign(0.246) NA GGT G,T 8.237e-06 6:33659538 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 missense_variant 3.379682 0.98913 0.98123 0.706548 0.997573701717837 0 4.97536705049387e-12 FALSE 8.12374e-06 ENSE00000741171_017 ENSE00000741171 017 6 33627195 33627364 + 48 84 38 G A 33627327 981 133 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGATAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659549 33659550 33659550 downstr_intron 1 1.02702702702703 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGATAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 806 67 0 0 0 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA -0.912569466407134 -0.914036519422997 0.878837519581286 0.913302992915065 NA -0.913302992915065 NA TRUE NA 1 9.865 . splice_donor_variant HIGH ITPR3 HGNC 6182 ENST00000374316 8/58 1 NA HC GGT G,A 3.295e-05 6:33659550 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 splice_donor_variant 5.52722 0.99507 0.99466 0.256867 0.995904623261724 0.976167 4.97536705049387e-12 FALSE 2.43803e-05 ENSE00000741171_018 ENSE00000741171 018 6 33627195 33627364 + 48 84 38 G C 33627331 982 137 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAACGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659553 33659554 33659554 downstr_intron 5 1.13513513513514 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAACGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 44 588 0 0.00140579145251545 0.000702895726257724 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA -0.912569466407134 -0.912630727970482 0.878837519581286 0.913302992915065 NA -0.912600097188808 NA TRUE NA 1 8.833 . splice_region_variant&intron_variant LOW ITPR3 HGNC 6182 ENST00000374316 8/58 1 NA AGG G,C 8.237e-06 6:33659554 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 splice_region_variant 1.883677 0.99464 0.99535 0 0.97756446184452 0.973733 4.97536705049387e-12 FALSE 4.06438e-06 ENSE00000741171_019 ENSE00000741171 019 6 33627195 33627364 + 48 84 38 G A 33627332 983 138 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGAACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 33659554 33659555 33659555 downstr_intron 6 1.16216216216216 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGAACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 65 91 1 0.99701776878736 0.99850888439368 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0874305335928663 0.0829812493643626 0.878837519581286 0.913302992915065 NA 0.0852058914786145 NA FALSE NA 0.073 -0.191 . splice_region_variant&intron_variant LOW ITPR3 HGNC 6182 ENST00000374316 8/58 1 NA GGA G,A 8.237e-06 6:33659555 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 splice_region_variant 1.155836 0.25452 0.0971 0 0.713738158338541 0.149559 4.97536705049387e-12 FALSE 1.62587e-05 ENSE00000741171_020 ENSE00000741171 020 6 33627195 33627364 + 48 84 38 C A 33627348 984 154 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCACTGCCCAGCTGGCCAC 33659417 33659587 33659570 33659571 33659571 downstr_intron 22 1.59459459459459 AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCACTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC mutant NA NA NA NA NA 629 336 0.970832037633436 0.982261072566487 0.976546555099962 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA 0.0582625712263023 0.0682245531434902 0.878837519581286 0.913302992915065 NA 0.0632435621848962 NA FALSE NA 0.005 1.29 . intron_variant MODIFIER ITPR3 HGNC 6182 ENST00000374316 8/58 1 NA CCC C,A 8.237e-06 6:33659571 ITPR3 HGNC Symbol protein_coding 76209 ENSG00000096433 ENSE00000741171 intron_variant 0.192913 0.16383 0.084 0.115753 0.59963509105376 0.0640695 4.97536705049387e-12 FALSE 1.22212e-05 ENSE00000741171_BRK ENSE00000741171 BRK 6 33627195 33627364 + 48 84 38 A,G; T,T NA NA NA AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCTTGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGCCAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC 33659417 33659587 NA NA NA NA NA NA AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCTTGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGCCAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC AGTGGCTGGGGTCCACCTGGCGTCACGGGTCTTGTCACCCTTCCGCAGGTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGGGTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCAC control NA NA NA NA NA 407 97 0 0.035133170134133 0.0175665850670665 0.930900337934887 0.826774701227685 0.912569466407134 0.914036519422997 NA NA -0.912569466407134 -0.878903349288864 0.878837519581286 0.913302992915065 NA -0.895736407847999 NA TRUE NA NA NA NA NA NA ITPR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR3 NA NA NA ENSG00000096433 ENSE00000741171 NA NA NA NA NA NA NA 4.97536705049387e-12 FALSE NA ENSE00000742045_000 ENSE00000742045 000 17 61838227 61838396 - 47 66 57 NA NA NA NA NA TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 NA NA NA NA NA NA TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG natural 26 17 0.971857835814583 0.999328944534214 0.985593390174399 5065 6017 0.986705297959497 0.942013151979166 0.964359224969332 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 0 0 0 0 0.985593390174399 0.964359224969332 0 0 0 FALSE FALSE NA NA NA NA NA CCDC47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC47 NA NA NA ENSG00000108588 ENSE00003560640 NA NA NA NA NA NA NA 0.00258817681450808 FALSE NA ENSE00000742045_001 ENSE00000742045 001 17 61838227 61838396 - 47 66 57 G C 61838238 2802 159 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGAGTGAATTATTTG 63760866 63761036 63760877 63760878 63760878 downstr_intron 36 1.78260869565217 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGAGTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 143 2205 0.939099331964058 0.947401126710003 0.943250229337031 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA -0.0476059659954388 0.00538797473083719 0.985593390174399 0.964359224969332 NA -0.0211089956323008 NA FALSE NA 0 -0.225 . intron_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/5 1 NA AGT G,C 8.237e-06 17:63760878 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 intron_variant -0.266862 0.14796 0.03612 0.295142 0.366614964168702 0.0977312 0.00258817681450808 FALSE 4.43963e-06 ENSE00000742045_002 ENSE00000742045 002 17 61838227 61838396 - 47 66 57 G A 61838257 2803 140 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGTTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760896 63760897 63760897 downstr_intron 17 1.3695652173913 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGTTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 1144 840 0.999169664507009 0.999811677400697 0.999490670953853 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0124643665475123 0.0577985254215305 0.985593390174399 0.964359224969332 NA 0.0351314459845214 NA FALSE NA 0 -0.304 . intron_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/5 1 NA AGC G,A 8.237e-06 17:63760897 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 intron_variant -0.016356 0.20894 0.05746 0.295142 0.494286820430479 0.145466 0.00258817681450808 FALSE 4.12279e-06 ENSE00000742045_003 ENSE00000742045 003 17 61838227 61838396 - 47 66 57 G A 61838259 2804 138 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCTGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760898 63760899 63760899 downstr_intron 15 1.32608695652174 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCTGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 2404 433 0.998179831043418 0.998491714110209 0.998335772576813 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0114745330839209 0.0564785621310426 0.985593390174399 0.964359224969332 NA 0.0339765476074818 NA FALSE NA 0.008 0.076 rs11654841 intron_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/5 rs11654841 1 G:0.2736 A:0.9569 A:0.6787 NA A:0.5565 A:0.5974 A:0.7566 A:0.8938 A:0.6062 CGG G,A 0.658 17:63760899 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 intron_variant -0.081884 0.21476 0.00559 0.295142 0.54393593074881 0.145466 0.00258817681450808 FALSE 0.647711 ENSE00000742045_004 ENSE00000742045 004 17 61838227 61838396 - 47 66 57 A C 61838266 2805 131 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTAGTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760905 63760906 63760906 downstr_intron 8 1.17391304347826 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTAGTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 721 1596 1 0.998616712457665 0.999308356228833 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0132947020405032 0.056603560478499 0.985593390174399 0.964359224969332 NA 0.0349491312595011 NA FALSE NA 0.875 0.394 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CCDC47 HGNC 24856 ENST00000582331 2/5 rs201808551 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0.0005 C:0.0007 AAT A,C 0.0005601 17:63760906 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 splice_region_variant -0.434568 0.22582 0.73578 0.295142 0.5473076990113 0.159562 0.00258817681450808 FALSE 0.000654887 ENSE00000742045_005 ENSE00000742045 005 17 61838227 61838396 - 47 66 57 A G 61838270 2806 127 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTACGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760909 63760910 63760910 downstr_intron 4 1.08695652173913 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTACGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 1096 3277 0.986281525299937 0.999040387506574 0.992660956403255 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA -0.000423772659560284 0.0570272355274077 0.985593390174399 0.964359224969332 NA 0.0283017314339237 NA FALSE NA 0.758 -0.022 rs190363096 splice_region_variant&intron_variant&non_coding_transcript_variant LOW CCDC47 HGNC 24856 ENST00000582331 2/5 rs190363096 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 8.236e-06 17:63760910 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 splice_region_variant 0.931495 0.96412 0.74915 0.295142 0.67866585434643 0.423747 0.00258817681450808 FALSE 4.06484e-06 ENSE00000742045_006 ENSE00000742045 006 17 61838227 61838396 - 47 66 57 C T 61838273 2807 124 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGATATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760912 63760913 63760913 downstr_intron 1 1.02173913043478 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGATATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 3083 572 0.817174417657548 0.826022480366081 0.821598449011815 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA -0.169530880301948 -0.115990671613085 0.985593390174399 0.964359224969332 NA -0.142760775957517 NA FALSE NA 1 7.546 . splice_donor_variant&non_coding_transcript_variant HIGH CCDC47 HGNC 24856 ENST00000582331 2/5 1 NA ACC C,T 8.236e-06 17:63760913 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 splice_donor_variant 5.794239 0.99622 0.99485 0.295142 0.993707431680948 0.988283 0.00258817681450808 FALSE 4.06336e-06 ENSE00000742045_007 ENSE00000742045 007 17 61838227 61838396 - 47 66 57 C T 61838274 2808 123 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTAGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760913 63760914 63760914 exon -1 1 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTAGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 389 393 0.946399029232784 0.928072317599491 0.937235673416137 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA -0.0403062687267126 -0.0139408343796755 0.985593390174399 0.964359224969332 NA -0.0271235515531941 NA FALSE NA 1 5.798 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW CCDC47 HGNC 24856 ENST00000582331 2/6 rs556085713 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCA C,T 4.942e-05 17:63760914 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 splice_region_variant 2.374095 0.99622 0.99216 0.706548 0.95392655103337 0 0.00258817681450808 FALSE 4.87634e-05 ENSE00000742045_008 ENSE00000742045 008 17 61838227 61838396 - 47 66 57 T G 61838281 2809 116 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGCTCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760920 63760921 63760921 exon -8 0.893939393939394 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGCTCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 1102 569 0.999100273471651 1 0.999550136735825 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0123949755121541 0.0579868480208338 0.985593390174399 0.964359224969332 NA 0.0351909117664939 NA FALSE NA 1 7.76 rs140415194 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 rs140415194 1 NA G:0.0002 G:0 ATC T,G 1.647e-05 17:63760921 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 missense_variant 6.684774 0.99508 0.9952 0.706548 0.942351312414402 0 0.00258817681450808 FALSE 1.2188e-05 ENSE00000742045_009 ENSE00000742045 009 17 61838227 61838396 - 47 66 57 C T 61838284 2810 113 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAATGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760923 63760924 63760924 exon -11 0.848484848484849 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAATGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 825 436 0.998897377533701 0.995471728639674 0.997184553086687 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0121920795742038 0.0534585766605075 0.985593390174399 0.964359224969332 NA 0.0328253281173556 NA FALSE NA 1 4.734 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 rs368816732 1 NA T:0.0002 T:0 ACT C,T 8.236e-06 17:63760924 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 missense_variant 2.76401 0.98995 0.98163 0.706548 0.926482534434302 0 0.00258817681450808 FALSE 4.06174e-06 ENSE00000742045_010 ENSE00000742045 010 17 61838227 61838396 - 47 66 57 C T 61838286 2811 111 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTAAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760925 63760926 63760926 exon -13 0.818181818181818 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTAAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 1172 1975 0.988849501589233 0.998314068117224 0.993581784853228 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.00214420362973589 0.0563009161380581 0.985593390174399 0.964359224969332 NA 0.029222559883897 NA FALSE NA 1 1.271 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 rs373115775 1 NA T:0.0002 T:0 TCA C,T 8.236e-06 17:63760926 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 synonymous_variant 1.82326 0.96788 0.84971 0.706548 0.705890780844057 0 0.00258817681450808 FALSE 4.06157e-06 ENSE00000742045_011 ENSE00000742045 011 17 61838227 61838396 - 47 66 57 A G 61838299 2812 98 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGACGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760938 63760939 63760939 exon -26 0.621212121212121 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGACGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 861 907 1 1 1 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0132947020405032 0.0579868480208338 0.985593390174399 0.964359224969332 NA 0.0356407750306685 NA FALSE NA 1 9.008 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 rs535517305 1 G:0.0006 G:0 G:0 NA G:0 G:0 G:0.0031 CAT A,G 0.0002224 17:63760939 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 missense_variant 4.025791 0.99323 0.99529 0.706548 0.893700251724871 0 0.00258817681450808 FALSE 0.000194943 ENSE00000742045_012 ENSE00000742045 012 17 61838227 61838396 - 47 66 57 C G 61838301 2813 96 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGCATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760940 63760941 63760941 exon -28 0.590909090909091 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGCATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 2933 995 0.980646637599956 0.996743366859385 0.98869500222967 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA -0.00605866035954084 0.0547302148802186 0.985593390174399 0.964359224969332 NA 0.0243357772603389 NA FALSE NA 0.619 -0.172 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 COSM1750226&COSM3932695 1 NA TCC C,G 1.647e-05 17:63760941 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 synonymous_variant 1.497081 0.96096 0.64248 0.706548 0.652060574221019 0 0.00258817681450808 FALSE 1.62454e-05 ENSE00000742045_013 ENSE00000742045 013 17 61838227 61838396 - 47 66 57 C T 61838302 2814 95 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCAGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760941 63760942 63760942 exon -29 0.575757575757576 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCAGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 891 1954 0.995335719505455 0.997361365402593 0.996348542454024 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.00863042154595817 0.0553482134234268 0.985593390174399 0.964359224969332 NA 0.0319893174846925 NA FALSE NA 1 7.546 rs146814166 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 rs146814166 1 NA CCG C,T 8.236e-06 17:63760942 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 missense_variant 6.650495 0.99468 0.99267 0.706548 0.993272933557254 0 0.00258817681450808 FALSE 1.21854e-05 ENSE00000742045_016 ENSE00000742045 016 17 61838227 61838396 - 47 66 57 C T 61838307 2817 90 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTAGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760946 63760947 63760947 exon 33 0.5 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTAGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 277 682 1 0.998251164168762 0.999125582084381 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0132947020405032 0.0562380121895962 0.985593390174399 0.964359224969332 NA 0.0347663571150497 NA FALSE NA 1 1.457 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 1 NA CCA C,T 8.236e-06 17:63760947 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 synonymous_variant 2.049216 0.98728 0.94977 0.706548 0.741588191115473 0 0.00258817681450808 FALSE 1.62462e-05 ENSE00000742045_017 ENSE00000742045 017 17 61838227 61838396 - 47 66 57 G T 61838318 2818 79 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTAATGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760957 63760958 63760958 exon 22 0.333333333333333 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTAATGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 316 2086 0.991261574786188 0.940044008579802 0.965652791682995 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.00455627682669135 -0.00196914339936449 0.985593390174399 0.964359224969332 NA 0.00129356671366343 NA FALSE NA 1 4.644 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 1 NA AGT G,T 2.471e-05 17:63760958 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 missense_variant 5.618411 0.99156 0.98774 0.706548 0.948577869438137 0 0.00258817681450808 FALSE 3.65571e-05 ENSE00000742045_018 ENSE00000742045 018 17 61838227 61838396 - 47 66 57 T A 61838323 2819 74 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGTCTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760962 63760963 63760963 exon 17 0.257575757575758 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGTCTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 254 903 1 0.997864521345204 0.998932260672602 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0132947020405032 0.0558513693660373 0.985593390174399 0.964359224969332 NA 0.0345730357032702 NA FALSE NA 1 7.76 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 2/6 1 NA GTC T,A 8.237e-06 17:63760963 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 missense_variant 7.004379 0.99295 0.99291 0.706548 0.929531518452115 0 0.00258817681450808 FALSE 8.12473e-06 ENSE00000742045_019 ENSE00000742045 019 17 61838227 61838396 - 47 66 57 T C 61838350 2820 47 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCGTTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63760989 63760990 63760990 upstr_intron -11 -0.175438596491228 TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCGTTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 294 1074 0.997353129314134 0.994170094080018 0.995761611697076 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.0106478313546369 0.0521569421008516 0.985593390174399 0.964359224969332 NA 0.0314023867277443 NA FALSE NA 0 -1.77 . intron_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 1/5 rs200244261 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATG T,C 8.237e-06 17:63760990 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 intron_variant 1.475803 0.16057 0.01845 0.099367 0.813926306414439 0.235292 0.00258817681450808 FALSE 4.07667e-06 ENSE00000742045_021 ENSE00000742045 021 17 61838227 61838396 - 47 66 57 C G 61838378 2822 19 TTTTTATACTAAGTAGGACTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63761017 63761018 63761018 upstr_intron -39 -0.666666666666667 TTTTTATACTAAGTAGGACTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant 14 19 0.975194859617369 0.966597208385013 0.970896034001191 1875 2006 0.520377473947451 0.43043980177797 0.475408637862711 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 0.00333702380278622 -0.0327317361492014 -0.466327824012046 -0.511573350201196 0.985593390174399 0.964359224969332 -0.0146973561732076 -0.488950587106621 0.474253230933413 FALSE FALSE 0 -0.703 . intron_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 1/5 1 NA ACT C,G 8.238e-06 17:63761018 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 intron_variant 0.065248 0.20047 0.13639 0.099367 0.312693500009806 0.0739558 0.00258817681450808 FALSE 4.21177e-06 ENSE00000742045_022 ENSE00000742045 022 17 61838227 61838396 - 47 66 57 C T 61838381 2823 16 TTTTTATACTAAGTAAGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 63761020 63761021 63761021 upstr_intron -42 -0.719298245614035 TTTTTATACTAAGTAAGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG mutant NA NA NA NA NA 404 429 0.994952207878784 0.993442337664739 0.994197272771761 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 NA NA 0.00824690991928745 0.0514291856855723 0.985593390174399 0.964359224969332 NA 0.0298380478024299 NA FALSE NA 0 -1.123 . intron_variant&non_coding_transcript_variant MODIFIER CCDC47 HGNC 24856 ENST00000582331 1/5 1 NA CCT C,T 3.296e-05 17:63761021 CCDC47 HGNC Symbol protein_coding 31101 ENSG00000108588 ENSE00003560640 intron_variant 0.213879 0.20063 0.03676 0.099367 0.326202766438109 0.0739558 0.00258817681450808 FALSE 5.96552e-05 ENSE00000742045_BRK ENSE00000742045 BRK 17 61838227 61838396 - 47 66 57 A,G; T,T NA NA NA TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCTTTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGCCATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG 63760866 63761036 NA NA NA NA NA NA TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCTTTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGCCATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG TTTTTATACTAAGTAGGAGTTGCAGTTGGATTTACTTACTTCTCTCATTTTTTTCAGTTCCTCAAGAGACAAGACTTACTGAATGTCCTGGCCCGGATGATGAGGCCAGTGAGTGATCAAGTGGTATGTATTCTTCCCGCTGGTTTTCTGTGTACAGACTGAATTATTTG control 52 18 0 0 0 1194 770 0.0632774365892998 0.0623554250789685 0.0628164308341341 0.971857835814583 0.999328944534214 0.986705297959497 0.942013151979166 -0.971857835814583 -0.999328944534214 -0.923427861370197 -0.879657726900198 0.985593390174399 0.964359224969332 -0.985593390174399 -0.901542794135197 0.0840505960392011 TRUE TRUE NA NA NA NA NA CCDC47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC47 NA NA NA ENSG00000108588 ENSE00003560640 NA NA NA NA NA NA NA 0.00258817681450808 FALSE NA ENSE00000742937_000 ENSE00000742937 000 17 66431728 66431897 - 33 93 44 NA NA NA NA NA CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 NA NA NA NA NA NA CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG natural 1264 2367 0.831038018831687 0.845779839167397 0.838408928999542 1702 3009 0.879276280391414 0.833586388262598 0.856431334327006 0.831038018831687 0.845779839167397 0.879276280391414 0.833586388262598 0 0 0 0 0.838408928999542 0.856431334327006 0 0 0 FALSE FALSE NA NA NA NA NA WIPI1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WIPI1 NA NA NA ENSG00000070540 ENSE00003566705 NA NA NA NA NA NA NA 0.523500460994852 FALSE NA ENSE00000742937_BRK ENSE00000742937 BRK 17 66431728 66431897 - 33 93 44 A,G; T,T NA NA NA CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACTTAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAACCGAGTCCACTCCCACCAACACCTCTGTCTGGG 68435586 68435756 NA NA NA NA NA NA CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACTTAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAACCGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG control 74 172 0 0 0 NA NA NA NA NA 0.831038018831687 0.845779839167397 0.879276280391414 0.833586388262598 -0.831038018831687 -0.845779839167397 NA NA 0.838408928999542 0.856431334327006 -0.838408928999542 NA NA NA TRUE NA NA NA NA NA WIPI1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WIPI1 NA NA NA ENSG00000070540 ENSE00003566705 NA NA NA NA NA NA NA 0.523500460994852 FALSE NA ENSE00000743792_000 ENSE00000743792 000 1 11292460 11292629 - 33 93 44 NA NA NA NA NA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 NA NA NA NA NA NA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA natural 30 28 0.977637095255712 0.981168903316751 0.979402999286232 2571 5169 0.991254574082061 0.873437181870135 0.932345877976098 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 0 0 0 0 0.979402999286232 0.932345877976098 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTOR NA NA NA ENSG00000198793 ENSE00000743792 NA NA NA NA NA NA NA 0.999999999999676 TRUE NA ENSE00000743792_003 ENSE00000743792 003 1 11292460 11292629 - 33 93 44 G A 11292476 309 154 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTTCTGATTGAGCAAGACA 11232402 11232572 11232418 11232419 11232419 downstr_intron 17 1.53125 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTTCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 204 450 1 0.998549212658524 0.999274606329262 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00874542591793948 0.125112030788389 0.979402999286232 0.932345877976098 NA 0.0669287283531644 NA FALSE NA 0 0.546 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11232419 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 intron_variant 1.21956 0.24239 0.05706 0.156188 0.673606855132437 0.141071 0.999999999999676 TRUE 0.00046012 ENSE00000743792_004 ENSE00000743792 004 1 11292460 11292629 - 33 93 44 G T 11292476 310 154 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTACTGATTGAGCAAGACA 11232402 11232572 11232418 11232419 11232419 downstr_intron 17 1.53125 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTACTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 445 298 0.923271391926017 1 0.961635695963008 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA -0.0679831821560438 0.126562818129865 0.979402999286232 0.932345877976098 NA 0.0292898179869107 NA FALSE NA 0 0.546 NA NA NA MTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTOR NA NA NA ENSG00000198793 ENSE00000743792 intron_variant 0.972241 0.24429 0.15704 0.156188 0.738386799331639 0.141071 0.999999999999676 TRUE 1.22156e-05 ENSE00000743792_005 ENSE00000743792 005 1 11292460 11292629 - 33 93 44 A G 11292478 311 152 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCCTCCTGATTGAGCAAGACA 11232402 11232572 11232420 11232421 11232421 downstr_intron 15 1.46875 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCCTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 92 140 1 0.994371261563766 0.997185630781883 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00874542591793948 0.120934079693631 0.979402999286232 0.932345877976098 NA 0.0648397528057852 NA FALSE NA 0 -0.055 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 16/57 1 NA AAG A,G 8.236e-06 1:11232421 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 intron_variant 1.41338 0.25665 0.12235 0.156188 0.82314815330977 0.141071 0.999999999999676 TRUE 4.0705e-06 ENSE00000743792_006 ENSE00000743792 006 1 11292460 11292629 - 33 93 44 G A 11292482 312 148 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTATTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232424 11232425 11232425 downstr_intron 11 1.34375 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTATTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant 20 23 0.85 0.9361337241939 0.89306686209695 424 245 0.999053341220595 0.961166974640817 0.980110157930706 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 -0.127637095255712 -0.0450351791228507 0.00779876713853467 0.0877297927706822 0.979402999286232 0.932345877976098 -0.0863361371892814 0.0477642799546084 0.13410041714389 FALSE FALSE 0.001 0.831 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 16/57 1 NA AGT G,A 8.236e-06 1:11232425 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 intron_variant 1.794812 0.34599 0.1811 0.156188 0.657054628541099 0.794991 0.999999999999676 TRUE 1.21993e-05 ENSE00000743792_007 ENSE00000743792 007 1 11292460 11292629 - 33 93 44 C T 11292496 313 134 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGACAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232438 11232439 11232439 exon -4 0.967741935483871 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGACAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 200 216 0.968983649954781 0.916363060574808 0.942673355264795 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA -0.0222709241272792 0.0429258787046729 0.979402999286232 0.932345877976098 NA 0.0103274772886969 NA FALSE NA 1 1.168 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 16/58 1 NA GCC C,T 3.295e-05 1:11232439 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 synonymous_variant 1.878597 0.97298 0.77328 0.706548 0.624734362327435 0 0.999999999999676 TRUE 2.03245e-05 ENSE00000743792_008 ENSE00000743792 008 1 11292460 11292629 - 33 93 44 C A 11292508 314 122 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTTTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232450 11232451 11232451 exon -16 0.838709677419355 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTTTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 86 197 0.99855550587623 1 0.999277752938115 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00730093179416913 0.126562818129865 0.979402999286232 0.932345877976098 NA 0.0669318749620171 NA FALSE NA 0.467 -0.303 . missense_variant MODERATE MTOR HGNC 3942 ENST00000361445 16/58 1 deleterious(0) benign(0.261) NA ACA C,A 1.647e-05 1:11232451 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 missense_variant 2.933923 0.29921 0.34461 0.706548 0.877347322115893 0 0.999999999999676 TRUE 2.03196e-05 ENSE00000743792_009 ENSE00000743792 009 1 11292460 11292629 - 33 93 44 C T 11292520 315 110 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAAGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232462 11232463 11232463 exon -28 0.709677419354839 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAAGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 333 127 0.998131356830647 1 0.999065678415323 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00687678274858639 0.126562818129865 0.979402999286232 0.932345877976098 NA 0.0667198004392258 NA FALSE NA 1 3.055 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 16/58 1 NA CCT C,T 1.647e-05 1:11232463 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 synonymous_variant 1.691982 0.98319 0.94928 0.706548 0.707301948311733 0 0.999999999999676 TRUE 8.12724e-06 ENSE00000743792_010 ENSE00000743792 010 1 11292460 11292629 - 33 93 44 G T 11292535 316 95 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATAATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232477 11232478 11232478 exon -43 0.548387096774194 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATAATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 789 290 1 0.961605457452143 0.980802728726071 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00874542591793948 0.0881682755820081 0.979402999286232 0.932345877976098 NA 0.0484568507499738 NA FALSE NA 1 1.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11232478 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 synonymous_variant 1.151803 0.97599 0.94883 0.706548 0.755991865293649 0 0.999999999999676 TRUE 2.43809e-05 ENSE00000743792_011 ENSE00000743792 011 1 11292460 11292629 - 33 93 44 G A 11292535 317 95 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATTATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232477 11232478 11232478 exon -43 0.548387096774194 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATTATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 640 1448 0.989718892057638 0.998964775036188 0.994341833546913 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA -0.00153568202442278 0.125527593166053 0.979402999286232 0.932345877976098 NA 0.061995955570815 NA FALSE NA 1 1.448 NA NA NA MTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTOR NA NA NA ENSG00000198793 ENSE00000743792 synonymous_variant 1.708334 0.9738 0.90263 0.706548 0.750244619727959 0 0.999999999999676 TRUE 9.34602e-05 ENSE00000743792_012 ENSE00000743792 012 1 11292460 11292629 - 33 93 44 T C 11292540 318 90 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTGTCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232482 11232483 11232483 exon 46 0.494623655913978 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTGTCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 205 640 1 1 1 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00874542591793948 0.126562818129865 0.979402999286232 0.932345877976098 NA 0.0676541220239023 NA FALSE NA 1 7.622 . missense_variant MODERATE MTOR HGNC 3942 ENST00000361445 16/58 1 tolerated(0.12) benign(0.089) NA ATA T,C 8.236e-06 1:11232483 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 missense_variant 2.55494 0.99254 0.98943 0.706548 0.996420960306944 0 0.999999999999676 TRUE 4.06355e-06 ENSE00000743792_013 ENSE00000743792 013 1 11292460 11292629 - 33 93 44 A G 11292541 319 89 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATCATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232483 11232484 11232484 exon 45 0.483870967741935 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATCATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 2954 841 0.999012898569059 0.999129246817867 0.999071072693463 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00775832448699887 0.125692064947732 0.979402999286232 0.932345877976098 NA 0.0667251947173653 NA FALSE NA 0.601 -0.329 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 16/58 1 NA TAA A,G 8.236e-06 1:11232484 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 synonymous_variant 0.97003 0.94651 0.45797 0.706548 0.777738099777504 0 0.999999999999676 TRUE 8.12665e-06 ENSE00000743792_014 ENSE00000743792 014 1 11292460 11292629 - 33 93 44 A T 11292546 320 84 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTATTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232488 11232489 11232489 exon 40 0.43010752688172 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTATTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 591 38 0.995736694711342 1 0.997868347355671 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00448212062928144 0.126562818129865 0.979402999286232 0.932345877976098 NA 0.0655224693795733 NA FALSE NA 1 8.872 . missense_variant MODERATE MTOR HGNC 3942 ENST00000361445 16/58 rs201521732 1 tolerated(0.07) benign(0.065) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 AAA A,T 8.236e-06 1:11232489 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 missense_variant 3.115956 0.99279 0.99367 0.706548 0.981322333611841 0 0.999999999999676 TRUE 4.06312e-06 ENSE00000743792_015 ENSE00000743792 015 1 11292460 11292629 - 33 93 44 C T 11292565 321 65 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGAAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232507 11232508 11232508 exon 21 0.225806451612903 CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGAAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 867 12 0.999046784147012 1 0.999523392073506 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00779221006495112 0.126562818129865 0.979402999286232 0.932345877976098 NA 0.0671775140974081 NA FALSE NA 1 1.474 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 16/58 1 NA TCC C,T 8.236e-06 1:11232508 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 synonymous_variant 1.960442 0.97634 0.91466 0.706548 0.578721732293002 0 0.999999999999676 TRUE 4.06316e-06 ENSE00000743792_016 ENSE00000743792 016 1 11292460 11292629 - 33 93 44 G A 11292617 322 13 CAGAATTTCTAATCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232559 11232560 11232560 upstr_intron -32 -0.704545454545455 CAGAATTTCTAATCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 182 1991 1 0.946611568785302 0.973305784392651 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00874542591793948 0.073174386915167 0.979402999286232 0.932345877976098 NA 0.0409599064165532 NA FALSE NA 0 -0.169 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11232560 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00000743792 intron_variant 0.038223 0.14106 0.00152 0.099367 0.443252891738439 0.0455939 0.999999999999676 TRUE NA ENSE00000743792_017 ENSE00000743792 017 1 11292460 11292629 - 33 93 44 G C 11292617 323 13 CAGAATTTCTAAGCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA 11232402 11232572 11232559 11232560 11232560 upstr_intron -32 -0.704545454545455 CAGAATTTCTAAGCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA CAGAATTTCTAACCCTTTCTGCCACCCTCTTTTTCATTTTGCAGGTTAGTGGCCTGGAAATGAGGAAATGGGTTGATGAACTTTTTATTATCATCATGGACATGCTCCAGGATTCCTCTTTGTTGGCCAAAAGGCAGGTGAGTATTACTGCTTCCTGATTGAGCAAGACA mutant NA NA NA NA NA 41 38 0.998991911803288 1 0.999495955901644 0.977637095255712 0.981168903316751 0.991254574082061 0.873437181870135 NA NA 0.00773733772122709 0.126562818129865 0.979402999286232 0.932345877976098 NA 0.0671500779255461 NA FALSE NA 0 -0.169 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTOR NA NA NA ENSG00000198793 ENSE00000743792 intron_variant -0.300869 0.23805 0.04641 0.099367 0.378352427685509 0.0455939 0.999999999999676 TRUE 1.63345e-05 ENSE00000743841_000 ENSE00000743841 000 2 32958853 32959022 + 42 96 32 NA NA NA NA NA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA 32733785 32733955 NA NA NA NA NA NA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA natural NA NA NA NA NA 2405 1182 0.996692352243896 0.972401573664124 0.98454696295401 NA NA 0.996692352243896 0.972401573664124 NA NA 0 0 NA 0.98454696295401 NA 0 NA FALSE NA NA NA NA NA NA TTC27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC27 NA NA NA ENSG00000018699 ENSE00000743841 NA NA NA NA NA NA NA 6.54258241947822e-09 FALSE NA ENSE00000743841_003 ENSE00000743841 003 2 32958853 32959022 + 42 96 32 A G 32958867 1070 15 AGTTATACATATAGGTTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA 32733785 32733955 32733799 32733800 32733800 upstr_intron -28 -0.642857142857143 AGTTATACATATAGGTTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA mutant NA NA NA NA NA 17 133 1 1 1 NA NA 0.996692352243896 0.972401573664124 NA NA 0.00330764775610415 0.0275984263358762 NA 0.98454696295401 NA 0.0154530370459902 NA FALSE NA 0 0.688 . upstream_gene_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 1 NA GAT A,G 8.237e-06 2:32733800 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00000743841 intron_variant 0.976945 0.80248 0.03604 0.162113 0.91136475070138 0.0640786 6.54258241947822e-09 FALSE 4.33362e-06 ENSE00000743841_005 ENSE00000743841 005 2 32958853 32959022 + 42 96 32 A G 32958881 1072 29 AGTTATACATATAGATTCTGATTGTGATGTATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA 32733785 32733955 32733813 32733814 32733814 upstr_intron -14 -0.30952380952381 AGTTATACATATAGATTCTGATTGTGATGTATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA mutant NA NA NA NA NA 100 232 1 1 1 NA NA 0.996692352243896 0.972401573664124 NA NA 0.00330764775610415 0.0275984263358762 NA 0.98454696295401 NA 0.0154530370459902 NA FALSE NA 0 -0.84 . upstream_gene_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 1 NA TAT A,G 1.647e-05 2:32733814 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00000743841 intron_variant -0.233715 0.12797 0.02244 0.162113 0.498199228629879 0.0640786 6.54258241947822e-09 FALSE 1.25821e-05 ENSE00000743841_009 ENSE00000743841 009 2 32958853 32959022 + 42 96 32 A G 32958903 1076 51 AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCGGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA 32733785 32733955 32733835 32733836 32733836 exon 9 0.09375 AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCGGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA mutant NA NA NA NA NA 331 26 1 1 1 NA NA 0.996692352243896 0.972401573664124 NA NA 0.00330764775610415 0.0275984263358762 NA 0.98454696295401 NA 0.0154530370459902 NA FALSE NA 1 1.909 . upstream_gene_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 1 NA CAG A,G 7.413e-05 2:32733836 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00000743841 synonymous_variant 1.070386 0.97399 0.91748 0.706298 0.755873068234993 0 6.54258241947822e-09 FALSE 6.13698e-05 ENSE00000743841_012 ENSE00000743841 012 2 32958853 32959022 + 42 96 32 C G 32958923 1079 71 AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAAGTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA 32733785 32733955 32733855 32733856 32733856 exon 29 0.302083333333333 AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAAGTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA mutant NA NA NA NA NA 31 180 1 1 1 NA NA 0.996692352243896 0.972401573664124 NA NA 0.00330764775610415 0.0275984263358762 NA 0.98454696295401 NA 0.0154530370459902 NA FALSE NA 0.522 0.892 . upstream_gene_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 1 NA ACT C,G 8.236e-06 2:32733856 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00000743841 missense_variant 0.377811 0.91549 0.36959 0.706298 0.43621099958733 0 6.54258241947822e-09 FALSE 4.0804e-06 ENSE00000743841_014 ENSE00000743841 014 2 32958853 32959022 + 42 96 32 C T 32958940 1081 88 AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAATGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA 32733785 32733955 32733872 32733873 32733873 exon 46 0.479166666666667 AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAATGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA mutant NA NA NA NA NA 231 499 0.990158387391059 0.928778066157469 0.959468226774264 NA NA 0.996692352243896 0.972401573664124 NA NA -0.00653396485283664 -0.0436235075066548 NA 0.98454696295401 NA -0.0250787361797457 NA FALSE NA 1 4.285 . upstream_gene_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 1 NA ACG C,T 8.236e-06 2:32733873 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00000743841 missense_variant 7.009679 0.98515 0.95113 0.706298 0.999175985934402 0 6.54258241947822e-09 FALSE 1.22176e-05 ENSE00000743841_021 ENSE00000743841 021 2 32958853 32959022 + 42 96 32 G T 32958982 1088 130 AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGTCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA 32733785 32733955 32733914 32733915 32733915 exon -9 0.916666666666667 AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGTCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA AGTTATACATATAGATTCTGATTGTGATATATGTCCTTTAAGGCTCTTGCAGACCAATTTGAAGATAAAACTACATCTGTATTGGAACGCCTGAAGATTTTCTATTGCTGTCAAGTACCACCTCACTGGGCCATTCAGGTATTTCTGTTGTTTGTCATTGGGTATGGAAA mutant NA NA NA NA NA 130 121 1 1 1 NA NA 0.996692352243896 0.972401573664124 NA NA 0.00330764775610415 0.0275984263358762 NA 0.98454696295401 NA 0.0154530370459902 NA FALSE NA 1 7.649 NA NA NA TTC27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:32733915 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00000743841 missense_variant 3.049573 0.99328 0.98757 0.706298 0.991702054960263 0 6.54258241947822e-09 FALSE 8.59817e-05 ENSE00000744547_000 ENSE00000744547 000 1 11875846 11876015 + 57 66 47 NA NA NA NA NA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA 11815788 11815958 NA NA NA NA NA NA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA natural NA NA NA NA NA 1204 664 0.994351691949111 1 0.997175845974556 NA NA 0.994351691949111 1 NA NA 0 0 NA 0.997175845974556 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLCN6 NA NA NA ENSG00000011021 ENSE00003546374 NA NA NA NA NA NA NA 0.163974191293187 FALSE NA ENSE00000744547_006 ENSE00000744547 006 1 11875846 11876015 + 57 66 47 G A 11875867 329 22 CCTTTGCAGGTCTTCTCACCTAACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA 11815788 11815958 11815809 11815810 11815810 upstr_intron -36 -0.614035087719298 CCTTTGCAGGTCTTCTCACCTAACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA mutant NA NA NA NA NA 103 99 1 0.990639077913353 0.995319538956676 NA NA 0.994351691949111 1 NA NA 0.00564830805088878 -0.00936092208664696 NA 0.997175845974556 NA -0.00185630701787909 NA FALSE NA 0.034 1.854 NA NA NA CLCN6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11815810 CLCN6 HGNC Symbol protein_coding 37048 ENSG00000011021 ENSE00003546374 intron_variant 0.186446 0.2054 0.17874 0.099367 0.690554671937701 0.0636473 0.163974191293187 FALSE 1.22643e-05 ENSE00000744547_009 ENSE00000744547 009 1 11875846 11876015 + 57 66 47 T A 11875894 332 49 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCACTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA 11815788 11815958 11815836 11815837 11815837 upstr_intron -9 -0.140350877192982 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCACTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA mutant NA NA NA NA NA 14 33 0.818247446836916 0.8 0.809123723418458 NA NA 0.994351691949111 1 NA NA -0.176104245112195 -0.2 NA 0.997175845974556 NA -0.188052122556097 NA FALSE NA 0 -0.043 . intron_variant&non_coding_transcript_variant MODIFIER CLCN6 HGNC 2024 ENST00000376490 2/10 1 NA CTC T,A 1.647e-05 1:11815837 CLCN6 HGNC Symbol protein_coding 37048 ENSG00000011021 ENSE00003546374 intron_variant 1.605427 0.3488 0.21722 0.139865 0.827844808249947 0.261943 0.163974191293187 FALSE 2.03688e-05 ENSE00000744547_011 ENSE00000744547 011 1 11875846 11876015 + 57 66 47 A C 11875910 334 65 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGCTTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA 11815788 11815958 11815852 11815853 11815853 exon 8 0.121212121212121 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGCTTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA mutant NA NA NA NA NA 31 35 1 1 1 NA NA 0.994351691949111 1 NA NA 0.00564830805088878 0 NA 0.997175845974556 NA 0.00282415402544439 NA FALSE NA 1 8.664 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLCN6 HGNC 2024 ENST00000376490 3/11 1 NA GAT A,C 8.236e-06 1:11815853 CLCN6 HGNC Symbol protein_coding 37048 ENSG00000011021 ENSE00003546374 missense_variant 6.282315 0.99 0.99286 0.706548 0.996192261497973 0 0.163974191293187 FALSE 4.06623e-06 ENSE00000744547_013 ENSE00000744547 013 1 11875846 11876015 + 57 66 47 C T 11875920 336 75 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGTTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA 11815788 11815958 11815862 11815863 11815863 exon 18 0.272727272727273 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGTTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA mutant NA NA NA NA NA 264 494 0.998903671964135 1 0.999451835982068 NA NA 0.994351691949111 1 NA NA 0.00455198001502422 0 NA 0.997175845974556 NA 0.00227599000751211 NA FALSE NA 0.864 -0.061 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLCN6 HGNC 2024 ENST00000376490 3/11 1 NA GCT C,T 8.236e-06 1:11815863 CLCN6 HGNC Symbol protein_coding 37048 ENSG00000011021 ENSE00003546374 synonymous_variant 2.030972 0.96612 0.73864 0.706548 0.722538788022697 0 0.163974191293187 FALSE 8.12618e-06 ENSE00000744547_014 ENSE00000744547 014 1 11875846 11876015 + 57 66 47 G A 11875922 337 77 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTATATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA 11815788 11815958 11815864 11815865 11815865 exon 20 0.303030303030303 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTATATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA mutant NA NA NA NA NA 141 51 1 1 1 NA NA 0.994351691949111 1 NA NA 0.00564830805088878 0 NA 0.997175845974556 NA 0.00282415402544439 NA FALSE NA 1 9.158 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLCN6 HGNC 2024 ENST00000376490 3/11 1 NA TGT G,A 8.236e-06 1:11815865 CLCN6 HGNC Symbol protein_coding 37048 ENSG00000011021 ENSE00003546374 missense_variant 6.674766 0.99193 0.99263 0.706548 0.985691803200275 0 0.163974191293187 FALSE 4.06286e-06 ENSE00000744547_018 ENSE00000744547 018 1 11875846 11876015 + 57 66 47 C A 11875979 341 134 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTAAAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA 11815788 11815958 11815921 11815922 11815922 downstr_intron 11 1.23913043478261 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTAAAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA mutant NA NA NA NA NA 133 491 1 0.988534059453988 0.994267029726994 NA NA 0.994351691949111 1 NA NA 0.00564830805088878 -0.0114659405460119 NA 0.997175845974556 NA -0.00290881624756156 NA FALSE NA 0 -0.38 NA NA NA CLCN6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11815922 CLCN6 HGNC Symbol protein_coding 37048 ENSG00000011021 ENSE00003546374 intron_variant -0.162989 0.20378 0.17252 0.062308 0.327533206744539 0.0982055 0.163974191293187 FALSE 0.00549919 ENSE00000744547_020 ENSE00000744547 020 1 11875846 11876015 + 57 66 47 A G 11875981 343 136 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAGTTCTTCATCTCTGGGGATCAAATCAGTCTTAACA 11815788 11815958 11815923 11815924 11815924 downstr_intron 13 1.28260869565217 CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAGTTCTTCATCTCTGGGGATCAAATCAGTCTTAACA CCTTTGCAGGTCTTCTCACCTGACATGACCTTTTGACTCAACTTTGCCTCTTTTCAGAGTTTGGATTATGATCGCTGTATCAATGACCCTTACCTGGAAGTTTTGGAGACCATGGATAATAAGGTGGGTCTTACAATTCTTCATCTCTGGGGATCAAATCAGTCTTAACA mutant NA NA NA NA NA 167 496 1 0.9958320403553 0.99791602017765 NA NA 0.994351691949111 1 NA NA 0.00564830805088878 -0.00416795964469974 NA 0.997175845974556 NA 0.000740174203094524 NA FALSE NA 0 -0.88 . intron_variant&non_coding_transcript_variant MODIFIER CLCN6 HGNC 2024 ENST00000376490 3/10 1 NA AAT A,G 1.647e-05 1:11815924 CLCN6 HGNC Symbol protein_coding 37048 ENSG00000011021 ENSE00003546374 intron_variant -0.133535 0.1121 0.00635 0.062308 0.333450246562787 0.0982055 0.163974191293187 FALSE 1.62447e-05 ENSE00000744861_000 ENSE00000744861 000 12 52911649 52911818 - 32 96 42 NA NA NA NA NA GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 NA NA NA NA NA NA GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT natural 162 183 0.997732307650138 0.992034698995487 0.994883503322813 5361 3183 0.976212579623563 0.873130729508142 0.924671654565852 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 0 0 0 0 0.994883503322813 0.924671654565852 0 0 0 FALSE FALSE NA NA NA NA NA KRT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT5 NA NA NA ENSG00000186081 ENSE00003605077 NA NA NA NA NA NA NA 0.469327657850036 FALSE NA ENSE00000744861_001 ENSE00000744861 001 12 52911649 52911818 - 32 96 42 T G 52911664 1754 155 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTACATTTTTCACATGGGT 52517864 52518034 52517879 52517880 52517880 downstr_intron 17 1.54838709677419 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTACATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 22 12 1 1 1 536 846 0.999141203562428 0.999813013352391 0.999477108457409 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 0.00226769234986179 0.0079653010045132 0.0229286239388649 0.126682283844249 0.994883503322813 0.924671654565852 0.0051164966771875 0.0748054538915569 0.0696889572143694 FALSE FALSE 0 -0.277 rs182508044 downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 rs182508044 1 G:0.0006 G:0 G:0.0043 NA G:0 G:0 G:0 TTT T,G 9.884e-05 12:52517880 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 non_coding_transcript_exon_variant 0.239853 0.22567 0.07284 0.080785 0.453361921593931 0.101171 0.469327657850036 FALSE 8.1217e-05 ENSE00000744861_002 ENSE00000744861 002 12 52911649 52911818 - 32 96 42 G A 52911667 1755 152 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATTTAAATTTTTCACATGGGT 52517864 52518034 52517882 52517883 52517883 downstr_intron 14 1.45161290322581 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATTTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 19 26 1 1 1 646 283 0.909443324663511 0.987997669130282 0.948720496896897 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 0.00226769234986179 0.0079653010045132 -0.0667692549600514 0.11486693962214 0.994883503322813 0.924671654565852 0.0051164966771875 0.0240488423310445 0.018932345653857 FALSE FALSE 0.003 0.487 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA AGA G,A 1.647e-05 12:52517883 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 non_coding_transcript_exon_variant 0.255383 0.2299 0.08612 0.080785 0.403836409018446 0.101171 0.469327657850036 FALSE 1.21822e-05 ENSE00000744861_003 ENSE00000744861 003 12 52911649 52911818 - 32 96 42 T C 52911678 1756 141 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTGAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517893 52517894 52517894 downstr_intron 3 1.09677419354839 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTGAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 27 32 0.989069431783638 0.992958025072019 0.991013728427829 449 841 0.999816544723211 0.998814703674876 0.999315624199044 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 -0.00866287586649972 0.000923326076531894 0.023603965099648 0.125683974166735 0.994883503322813 0.924671654565852 -0.00386977489498391 0.0746439696331913 0.0785137445281752 FALSE FALSE 0.999 0.757 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA TTA T,C 8.236e-06 12:52517894 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 splice_region_variant 1.531076 0.81595 0.6611 0.080785 0.868401369643929 0.403535 0.469327657850036 FALSE 4.06055e-06 ENSE00000744861_005 ENSE00000744861 005 12 52911649 52911818 - 32 96 42 G A 52911682 1758 137 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGTGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517897 52517898 52517898 exon -2 0.989583333333333 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGTGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 14 32 1 0.922411069289921 0.961205534644961 795 722 0.999948223382295 0.959904936097786 0.979926579740041 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 0.00226769234986179 -0.0696236297055656 0.0237356437587321 0.0867742065896446 0.994883503322813 0.924671654565852 -0.0336779686778519 0.0552549251741883 0.0889328938520402 FALSE FALSE 0.998 1.683 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:52517898 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 missense_variant 3.59366 0.8391 0.70692 0.516011 0.995972331236483 0 0.469327657850036 FALSE 0.000146182 ENSE00000744861_006 ENSE00000744861 006 12 52911649 52911818 - 32 96 42 G T 52911682 1759 137 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGAGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517897 52517898 52517898 exon -2 0.989583333333333 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGAGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 27 14 1 1 1 662 912 0.995352298163329 0.883456825847689 0.939404562005509 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 0.00226769234986179 0.0079653010045132 0.0191397185397663 0.0103260963395474 0.994883503322813 0.924671654565852 0.0051164966771875 0.0147329074396568 0.00961641076246933 FALSE FALSE 0.998 1.683 NA NA NA KRT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT5 NA NA NA ENSG00000186081 ENSE00003605077 missense_variant 2.418001 0.83597 0.67338 0.516011 0.916914182052757 0 0.469327657850036 FALSE 4.06062e-06 ENSE00000744861_007 ENSE00000744861 007 12 52911649 52911818 - 32 96 42 A G 52911684 1760 135 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGACGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517899 52517900 52517900 exon -4 0.96875 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGACGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 10 13 1 1 1 642 52 1 1 1 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 0.00226769234986179 0.0079653010045132 0.0237874203764372 0.126869270491858 0.994883503322813 0.924671654565852 0.0051164966771875 0.0753283454341477 0.0702118487569602 FALSE FALSE 0 -2.257 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA CAT A,G 8.236e-06 12:52517900 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 synonymous_variant 0.607281 0.47939 0.11249 0.516011 0.767843931920361 0 0.469327657850036 FALSE 8.1211e-06 ENSE00000744861_010 ENSE00000744861 010 12 52911649 52911818 - 32 96 42 A C 52911708 1763 111 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATGAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517923 52517924 52517924 exon -28 0.71875 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATGAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant NA NA NA NA NA 336 321 0.997524328396676 1 0.998762164198338 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 NA NA 0.0213117487731129 0.126869270491858 0.994883503322813 0.924671654565852 NA 0.0740905096324855 NA FALSE NA 1 2.208 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA TAA A,C 8.236e-06 12:52517924 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 missense_variant 4.517362 0.94565 0.77854 0.516011 0.993795224934724 0 0.469327657850036 FALSE 1.21818e-05 ENSE00000744861_011 ENSE00000744861 011 12 52911649 52911818 - 32 96 42 C T 52911720 1764 99 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTAATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517935 52517936 52517936 exon -40 0.59375 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTAATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 40 23 1 1 1 722 847 0.999657502633645 0.997666500042454 0.998662001338049 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 0.00226769234986179 0.0079653010045132 0.0234449230100824 0.124535770534312 0.994883503322813 0.924671654565852 0.0051164966771875 0.0739903467721971 0.0688738500950096 FALSE FALSE 0 -0.083 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA TCA C,T 3.295e-05 12:52517936 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 synonymous_variant 1.246078 0.89314 0.25275 0.516011 0.779454939581864 0 0.469327657850036 FALSE 0.000113695 ENSE00000744861_012 ENSE00000744861 012 12 52911649 52911818 - 32 96 42 A C 52911726 1765 93 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGAGGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517941 52517942 52517942 exon -46 0.53125 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGAGGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant NA NA NA NA NA 1168 725 0.99921187445321 0.997926167235742 0.998569020844476 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 NA NA 0.0229992948296474 0.1247954377276 0.994883503322813 0.924671654565852 NA 0.0738973662786238 NA FALSE NA 0 -0.912 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA CAT A,C 8.236e-06 12:52517942 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 missense_variant -0.154262 0.21634 0.10684 0.623552 0.906908557611269 0 0.469327657850036 FALSE 4.06055e-06 ENSE00000744861_013 ENSE00000744861 013 12 52911649 52911818 - 32 96 42 A C 52911729 1766 90 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTGGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517944 52517945 52517945 exon 48 0.5 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTGGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant NA NA NA NA NA 723 879 0.998164179434926 0.990526784704629 0.994345482069777 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 NA NA 0.0219515998113633 0.117396055196487 0.994883503322813 0.924671654565852 NA 0.0696738275039251 NA FALSE NA 0 -2.604 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA CAA A,C 3.295e-05 12:52517945 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 synonymous_variant -0.706737 0.49595 0.05773 0.623552 0.623387612578093 0 0.469327657850036 FALSE 7.71505e-05 ENSE00000744861_014 ENSE00000744861 014 12 52911649 52911818 - 32 96 42 A G 52911730 1767 89 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGCTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517945 52517946 52517946 exon 47 0.489583333333333 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGCTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant NA NA NA NA NA 308 474 0.994669613988965 0.996464048462975 0.99556683122597 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 NA NA 0.0184570343654026 0.123333318954833 0.994883503322813 0.924671654565852 NA 0.0708951766601178 NA FALSE NA 0.536 3.444 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA AAC A,G 2.471e-05 12:52517946 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 missense_variant 1.984383 0.86003 0.75595 0.553676 0.966600508030729 0 0.469327657850036 FALSE 2.03029e-05 ENSE00000744861_015 ENSE00000744861 015 12 52911649 52911818 - 32 96 42 C T 52911741 1768 78 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTAGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517956 52517957 52517957 exon 36 0.375 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTAGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 40 13 0.967835846220203 0.994325022933923 0.981080434577063 300 366 0.99986274154732 1 0.99993137077366 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 -0.0298964614299349 0.0022903239384362 0.0236501619237569 0.126869270491858 0.994883503322813 0.924671654565852 -0.0138030687457493 0.0752597162078075 0.0890627849535569 FALSE FALSE 0.763 -0.459 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA CCA C,T 4.942e-05 12:52517957 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 synonymous_variant 0.764937 0.40434 0.10337 0.638212 0.835954738581877 0 0.469327657850036 FALSE 5.27872e-05 ENSE00000744861_016 ENSE00000744861 016 12 52911649 52911818 - 32 96 42 C T 52911749 1769 70 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGATGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517964 52517965 52517965 exon 28 0.291666666666667 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGATGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 14 21 0.993006294052482 0.996026759888442 0.994516526970462 1030 722 0.996482250615378 0.99978088999247 0.998131570303924 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 -0.00472601359765668 0.0039920608929549 0.0202696709918151 0.126650160484328 0.994883503322813 0.924671654565852 -0.00036697635235089 0.0734599157380714 0.0738268920904223 FALSE FALSE 1 5.932 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA ACC C,T 8.236e-06 12:52517965 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 missense_variant 5.124018 0.95903 0.91792 0.638212 0.996763926123556 0 0.469327657850036 FALSE 4.06055e-06 ENSE00000744861_017 ENSE00000744861 017 12 52911649 52911818 - 32 96 42 C T 52911776 1770 43 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGAATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517991 52517992 52517992 exon 1 0.0104166666666667 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGAATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 14 27 0.999379087773174 0.999596644924186 0.99948786634868 997 244 0.995042202805105 0.802436220886673 0.898739211845889 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 0.00164678012303532 0.00756194592869952 0.0188296231815427 -0.070694508621469 0.994883503322813 0.924671654565852 0.00460436302586742 -0.0259324427199631 0.0305368057458306 FALSE FALSE 1 7.653 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA TCC C,T 8.236e-06 12:52517992 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 missense_variant 6.517514 0.97249 0.95115 0.553676 0.999088605716078 0 0.469327657850036 FALSE 4.06055e-06 ENSE00000744861_018 ENSE00000744861 018 12 52911649 52911818 - 32 96 42 G A 52911780 1771 39 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCTCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517995 52517996 52517996 upstr_intron -4 -0.0714285714285714 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCTCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant NA NA NA NA NA 309 1328 0.992446217615437 0.998320364610029 0.995383291112733 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 NA NA 0.0162336379918744 0.125189635101887 0.994883503322813 0.924671654565852 NA 0.0707116365468808 NA FALSE NA 0.951 1.016 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA GGG G,A 8.236e-06 12:52517996 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 splice_region_variant 0.671434 0.24938 0.17811 0.061011 0.778405630452228 0.207226 0.469327657850036 FALSE 4.06055e-06 ENSE00000744861_019 ENSE00000744861 019 12 52911649 52911818 - 32 96 42 G C 52911781 1772 38 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCGCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52517996 52517997 52517997 upstr_intron -5 -0.0952380952380952 GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCGCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant 11 43 0.970660027904135 0.97418878059799 0.972424404251063 705 423 0.995793598624069 0.982093425328628 0.988943511976348 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 -0.0270722797460028 -0.0178459183974971 0.0195810190005061 0.108962695820486 0.994883503322813 0.924671654565852 -0.0224590990717499 0.0642718574104961 0.086730956482246 FALSE FALSE 0.511 0.363 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA GGG G,C 1.647e-05 12:52517997 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 splice_region_variant 0.476641 0.28551 0.24618 0.061011 0.767490657070708 0.272892 0.469327657850036 FALSE 8.1211e-06 ENSE00000744861_020 ENSE00000744861 020 12 52911649 52911818 - 32 96 42 A C 52911807 1773 12 GGGTGACGGTGGGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 52518022 52518023 52518023 upstr_intron -31 -0.714285714285714 GGGTGACGGTGGGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT mutant NA NA NA NA NA 901 410 0.999817156042284 1 0.999908578021142 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 NA NA 0.0236045764187216 0.126869270491858 0.994883503322813 0.924671654565852 NA 0.0752369234552899 NA FALSE NA 0 0.203 . downstream_gene_variant MODIFIER KRT5 HGNC 6442 ENST00000551275 1 NA CAC A,C 8.236e-06 12:52518023 KRT5 HGNC Symbol protein_coding 6112 ENSG00000186081 ENSE00003605077 non_coding_transcript_exon_variant -0.1198 0.1427 0.02074 0.061011 0.550199487722557 0.0843407 0.469327657850036 FALSE 4.06055e-06 ENSE00000744861_BRK ENSE00000744861 BRK 12 52911649 52911818 - 32 96 42 A,G; T,T NA NA NA GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCTTGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGCCAAGAAACTTATCTAAATTTTTCACATGGGT 52517864 52518034 NA NA NA NA NA NA GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCTTGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGCCAAGAAACTTATCTAAATTTTTCACATGGGT GGGTGACGGTGTGTGCAGTGCCAATCATCCCTGTTTCCCCAGGATGTAGATGCTGCCTACATGAACAAGGTGGAGCTGGAGGCCAAGGTTGATGCACTGATGGATGAGATTAACTTCATGAAGATGTTCTTTGATGCGGTAAGAAACTTATCTAAATTTTTCACATGGGT control 360 364 0 0 0 155 497 0 0.0279131092472595 0.0139565546236297 0.997732307650138 0.992034698995487 0.976212579623563 0.873130729508142 -0.997732307650138 -0.992034698995487 -0.976212579623563 -0.845217620260882 0.994883503322813 0.924671654565852 -0.994883503322813 -0.910715099942223 0.0841684033805898 TRUE TRUE NA NA NA NA NA KRT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT5 NA NA NA ENSG00000186081 ENSE00003605077 NA NA NA NA NA NA NA 0.469327657850036 FALSE NA ENSE00000747541_000 ENSE00000747541 000 11 116650441 116650610 - 47 66 57 NA NA NA NA NA CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC 116779724 116779894 NA NA NA NA NA NA CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC natural 10 14 0.999104773766922 1 0.999552386883461 1607 3210 0.98751767695703 0.998722381586037 0.993120029271533 0.999104773766922 1 0.98751767695703 0.998722381586037 0 0 0 0 0.999552386883461 0.993120029271533 0 0 0 FALSE FALSE NA NA NA NA NA ZNF259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZPR1 NA NA NA ENSG00000109917 ENSE00000747541 NA NA NA NA NA NA NA NA NA NA ENSE00000747541_011 ENSE00000747541 011 11 116650441 116650610 - 47 66 57 G A 116650539 2563 72 CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAATATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC 116779724 116779894 116779822 116779823 116779823 exon 15 0.227272727272727 CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAATATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC mutant NA NA NA NA NA 46 449 1 1 1 0.999104773766922 1 0.98751767695703 0.998722381586037 NA NA 0.0124823230429705 0.00127761841396268 0.999552386883461 0.993120029271533 NA 0.00687997072846658 NA FALSE NA 0 -0.383 . synonymous_variant LOW ZNF259 HGNC 13051 ENST00000444935 12/13 1 NA TGT G,A 8.236e-06 11:116779823 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747541 synonymous_variant 0.078795 0.2309 0.13421 0.744818 0.602939394402728 0 NA NA 8.37563e-06 ENSE00000747541_016 ENSE00000747541 016 11 116650441 116650610 - 47 66 57 G A 116650560 2568 51 CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTTCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC 116779724 116779894 116779843 116779844 116779844 upstr_intron -7 -0.105263157894737 CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTTCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC mutant NA NA NA NA NA 26 42 1 1 1 0.999104773766922 1 0.98751767695703 0.998722381586037 NA NA 0.0124823230429705 0.00127761841396268 0.999552386883461 0.993120029271533 NA 0.00687997072846658 NA FALSE NA 0.688 0.404 . splice_region_variant&intron_variant LOW ZNF259 HGNC 13051 ENST00000444935 11/12 1 NA GGA G,A 1.647e-05 11:116779844 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747541 splice_region_variant 0.143449 0.20941 0.19247 0.10756 0.549697503525286 0.201138 NA NA 8.61809e-06 ENSE00000747541_018 ENSE00000747541 018 11 116650441 116650610 - 47 66 57 G A 116650564 2570 47 CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTTTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC 116779724 116779894 116779847 116779848 116779848 upstr_intron -11 -0.175438596491228 CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTTTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC mutant NA NA NA NA NA 31 503 1 1 1 0.999104773766922 1 0.98751767695703 0.998722381586037 NA NA 0.0124823230429705 0.00127761841396268 0.999552386883461 0.993120029271533 NA 0.00687997072846658 NA FALSE NA 0 0.053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:116779848 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747541 intron_variant 0.141925 0.20258 0.18788 0.10756 0.67805452190509 0.229777 NA NA 8.80119e-06 ENSE00000747541_019 ENSE00000747541 019 11 116650441 116650610 - 47 66 57 G C 116650564 2571 47 CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTGTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC 116779724 116779894 116779847 116779848 116779848 upstr_intron -11 -0.175438596491228 CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTGTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC mutant NA NA NA NA NA 20 429 1 0.999631168406766 0.999815584203383 0.999104773766922 1 0.98751767695703 0.998722381586037 NA NA 0.0124823230429705 0.000908786820729035 0.999552386883461 0.993120029271533 NA 0.00669555493184976 NA FALSE NA 0 0.053 NA NA NA ZNF259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZPR1 NA NA NA ENSG00000109917 ENSE00000747541 intron_variant -0.205063 0.19728 0.21428 0.10756 0.528989624817108 0.229777 NA NA 3.08042e-05 ENSE00000747541_025 ENSE00000747541 025 11 116650441 116650610 - 47 66 57 T A 116650587 2577 24 CCTCTTTTTACCAGGGGTTATGTTAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC 116779724 116779894 116779870 116779871 116779871 upstr_intron -34 -0.578947368421053 CCTCTTTTTACCAGGGGTTATGTTAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC mutant NA NA NA NA NA 356 233 1 1 1 0.999104773766922 1 0.98751767695703 0.998722381586037 NA NA 0.0124823230429705 0.00127761841396268 0.999552386883461 0.993120029271533 NA 0.00687997072846658 NA FALSE NA 0.066 0.519 . intron_variant MODIFIER ZNF259 HGNC 13051 ENST00000444935 11/12 rs200276815 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 TTA T,A 5.765e-05 11:116779871 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747541 intron_variant 0.231239 0.23258 0.32448 0.10756 0.763835236556543 0.109862 NA NA 4.46743e-05 ENSE00000747541_027 ENSE00000747541 027 11 116650441 116650610 - 47 66 57 C G 116650596 2579 15 CCTCTTTTTACCAGCGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC 116779724 116779894 116779879 116779880 116779880 upstr_intron -43 -0.736842105263158 CCTCTTTTTACCAGCGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC mutant NA NA NA NA NA 1170 125 0.989442846872158 0.965115094086293 0.977278970479226 0.999104773766922 1 0.98751767695703 0.998722381586037 NA NA 0.0019251699151287 -0.0336072874997444 0.999552386883461 0.993120029271533 NA -0.0158410587923078 NA FALSE NA 0 -0.096 . intron_variant MODIFIER ZNF259 HGNC 13051 ENST00000444935 11/12 1 NA CCC C,G 8.236e-06 11:116779880 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747541 intron_variant -0.420873 0.14883 0.04016 0.10756 0.450184405066627 0.0478578 NA NA 5.25012e-06 ENSE00000747541_BRK ENSE00000747541 BRK 11 116650441 116650610 - 47 66 57 A,G; T,T NA NA NA CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTTTATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGCCATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC 116779724 116779894 NA NA NA NA NA NA CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTTTATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGCCATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC CCTCTTTTTACCAGGGGTTATGTAAAATTTACTTGCTGTGTTCTCTCTCTCCTTTAGATCATCGAAGGTAACATGAAGGCCCACTTTATTATGGATGATCCAGCAGGAAACAGTTACTTGCAGGTATAGTAGACCTTCCCTGATGTTTCATAGAGATACATTTTCTGATC control 10 16 0 0 0 NA NA NA NA NA 0.999104773766922 1 0.98751767695703 0.998722381586037 -0.999104773766922 -1 NA NA 0.999552386883461 0.993120029271533 -0.999552386883461 NA NA NA TRUE NA NA NA NA NA ZNF259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZPR1 NA NA NA ENSG00000109917 ENSE00000747541 NA NA NA NA NA NA NA NA NA NA ENSE00000747548_000 ENSE00000747548 000 11 116655759 116655928 - 56 48 66 NA NA NA NA NA CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 NA NA NA NA NA NA AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG natural 46 89 0.998559157132546 0.982551716577219 0.990555436854882 3313 2678 0.97123077806543 0.98764087011599 0.97943582409071 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 0 0 0 0 0.990555436854882 0.97943582409071 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZPR1 NA NA NA ENSG00000109917 ENSE00000747548 NA NA NA NA NA NA NA NA NA NA ENSE00000747548_002 ENSE00000747548 002 11 116655759 116655928 - 56 48 66 A G 116655777 2605 152 CATCAGTCTCAGCCCACAGCTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785060 116785061 116785061 downstr_intron 38 1.69090909090909 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGCTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 296 571 1 0.996540503702855 0.998270251851428 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0287692219345695 0.00889963358686541 0.990555436854882 0.97943582409071 NA 0.0188344277607175 NA FALSE NA 0 -0.547 NA NA NA APOA5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:116785061 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 0.10261 0.16295 0.06181 0.283894 0.71673834303931 0.184512 NA NA 2.03113e-05 ENSE00000747548_005 ENSE00000747548 005 11 116655759 116655928 - 56 48 66 T C 116655791 2608 138 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCCCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785074 116785075 116785075 downstr_intron 24 1.43636363636364 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGGGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 83 982 1 1 1 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0287692219345695 0.01235912988401 0.990555436854882 0.97943582409071 NA 0.0205641759092898 NA FALSE NA 0.004 0.632 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 rs201138732 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTC T,C 0.0001894 11:116785075 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 2.403576 0.29456 0.15046 0.283894 0.910597591508888 0.400504 NA NA 0.000134024 ENSE00000747548_006 ENSE00000747548 006 11 116655759 116655928 - 56 48 66 C T 116655792 2609 137 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTTACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785075 116785076 116785076 downstr_intron 23 1.41818181818182 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTAAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 45 328 1 1 1 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0287692219345695 0.01235912988401 0.990555436854882 0.97943582409071 NA 0.0205641759092898 NA FALSE NA 0.004 1.014 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 1 NA TCA C,T 4.118e-05 11:116785076 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 2.677333 0.38536 0.25355 0.283894 0.898238808046727 0.816299 NA NA 3.65556e-05 ENSE00000747548_009 ENSE00000747548 009 11 116655759 116655928 - 56 48 66 A G 116655818 2612 111 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCGTTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785101 116785102 116785102 exon -4 0.9375 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAACGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 188 459 0.989184663031346 0.995918259635344 0.992551461333345 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0179538849659151 0.00827738951935419 0.990555436854882 0.97943582409071 NA 0.0131156372426346 NA FALSE NA 0.502 -0.391 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 1 NA CAT A,G 8.236e-06 11:116785102 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 synonymous_variant 0.737733 0.87397 0.48771 0.706548 0.85569836785829 0 NA NA 1.62441e-05 ENSE00000747548_011 ENSE00000747548 011 11 116655759 116655928 - 56 48 66 C T 116655835 2614 94 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTTTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785118 116785119 116785119 exon -21 0.583333333333333 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAAAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 30 128 1 0.998762417713096 0.999381208856548 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0287692219345695 0.0111215475971063 0.990555436854882 0.97943582409071 NA 0.0199453847658379 NA FALSE NA 0.947 4.123 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 1 NA TCT C,T 8.236e-06 11:116785119 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 missense_variant 3.526565 0.95548 0.94148 0.706548 0.996210550958681 0 NA NA 4.06124e-06 ENSE00000747548_013 ENSE00000747548 013 11 116655759 116655928 - 56 48 66 A T 116655875 2616 54 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAATGATGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785158 116785159 116785159 upstr_intron -13 -0.181818181818182 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCATTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 14 157 1 1 1 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0287692219345695 0.01235912988401 0.990555436854882 0.97943582409071 NA 0.0205641759092898 NA FALSE NA 0.122 3.19 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 1 NA AAG A,T 8.236e-06 11:116785159 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 0.350396 0.59869 0.69246 0.099367 0.755320170786536 0.220865 NA NA 4.06405e-06 ENSE00000747548_014 ENSE00000747548 014 11 116655759 116655928 - 56 48 66 T C 116655878 2617 51 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGACGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785161 116785162 116785162 upstr_intron -16 -0.227272727272727 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCGTCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 252 75 0.986545386696879 1 0.99327269334844 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0153146086314488 0.01235912988401 0.990555436854882 0.97943582409071 NA 0.0138368692577294 NA FALSE NA 0 -0.997 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 rs377730143 1 NA C:0.0002 C:0 ATG T,C 8.236e-06 11:116785162 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 0.038516 0.17307 0.08198 0.099367 0.620887733782171 0.209399 NA NA 4.06497e-06 ENSE00000747548_016 ENSE00000747548 016 11 116655759 116655928 - 56 48 66 G C 116655882 2619 47 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCACGTCGCAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785165 116785166 116785166 upstr_intron -20 -0.287878787878788 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACGTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 1120 606 0.88266911367343 0.997188041817246 0.939928577745338 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA -0.0885616643920006 0.00954717170125596 0.990555436854882 0.97943582409071 NA -0.0395072463453723 NA FALSE NA 0 0.103 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 1 NA AGG C,C 8.236e-06 11:116785166 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant -0.329231 0.19653 0.08693 0.099367 0.44908543696742 0.148516 NA NA 4.06663e-06 ENSE00000747548_017 ENSE00000747548 017 11 116655759 116655928 - 56 48 66 G A 116655886 2620 43 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCACAAGTTGGCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785169 116785170 116785170 upstr_intron -24 -0.348484848484849 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGTGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 304 449 0.993297435941105 1 0.996648717970553 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0220666578756749 0.01235912988401 0.990555436854882 0.97943582409071 NA 0.0172128938798424 NA FALSE NA 0.001 -0.012 rs116813133 downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 rs116813133 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0 A:0.0001 CGC G,A 3.295e-05 11:116785170 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 0.12007 0.12046 0.00461 0.099367 0.514170909503762 0.148516 NA NA 3.25685e-05 ENSE00000747548_018 ENSE00000747548 018 11 116655759 116655928 - 56 48 66 G A 116655894 2621 35 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGACAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785177 116785178 116785178 upstr_intron -32 -0.46969696969697 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGTCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 148 384 0.974962222877957 1 0.987481111438979 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.00373144481252663 0.01235912988401 0.990555436854882 0.97943582409071 NA 0.00804528734826832 NA FALSE NA 0 0.282 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:116785178 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 0.45617 0.28251 0.06145 0.099367 0.611175667118439 0.136714 NA NA 1.62989e-05 ENSE00000747548_019 ENSE00000747548 019 11 116655759 116655928 - 56 48 66 G C 116655894 2622 35 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGCCAGGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785177 116785178 116785178 upstr_intron -32 -0.46969696969697 AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGGCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 2055 268 0.988114442577296 1 0.994057221288648 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0168836645118656 0.01235912988401 0.990555436854882 0.97943582409071 NA 0.0146213971979378 NA FALSE NA 0 0.282 NA NA NA APOA5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZPR1 NA NA NA ENSG00000109917 ENSE00000747548 intron_variant 0.129148 0.31163 0.30934 0.099367 0.637357833053128 0.136714 NA NA 4.07471e-06 ENSE00000747548_020 ENSE00000747548 020 11 116655759 116655928 - 56 48 66 G C 116655897 2623 32 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCACGTATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785180 116785181 116785181 upstr_intron -35 -0.515151515151515 AGGGCAGGGTGTTGGGGACACTGAGGTATACGTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 2074 216 0.875734456414986 0.984158422754464 0.929946439584725 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA -0.0954963216504449 -0.0034824473615257 0.990555436854882 0.97943582409071 NA -0.0494893845059853 NA FALSE NA 0 -0.016 rs185200792 downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 rs185200792 1 C:0.0012 C:0 C:0 NA C:0.006 C:0 C:0 AGG G,C 0.0005765 11:116785181 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant -0.302296 0.18232 0.08173 0.099367 0.443331459443584 0.136714 NA NA 0.000627833 ENSE00000747548_021 ENSE00000747548 021 11 116655759 116655928 - 56 48 66 G A 116655898 2624 31 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGATATACCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785181 116785182 116785182 upstr_intron -36 -0.53030303030303 AGGGCAGGGTGTTGGGGACACTGAGGTATATCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 488 689 1 0.999944746230203 0.999972373115102 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0287692219345695 0.0123038761142132 0.990555436854882 0.97943582409071 NA 0.0205365490243914 NA FALSE NA 0 -0.971 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 rs374399651 1 NA A:0 A:0.0001 GGT G,A 8.236e-06 11:116785182 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 0.175742 0.185 0.06943 0.099367 0.369827099354982 0.136714 NA NA 1.224e-05 ENSE00000747548_022 ENSE00000747548 022 11 116655759 116655928 - 56 48 66 A G 116655902 2625 27 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATGCCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785185 116785186 116785186 upstr_intron -40 -0.590909090909091 AGGGCAGGGTGTTGGGGACACTGAGGCATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 29 379 0.96668402967664 0.995029800638944 0.980856915157792 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA -0.00454674838879066 0.00738893052295364 0.990555436854882 0.97943582409071 NA 0.00142109106708149 NA FALSE NA 0.017 1.708 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 1 NA TAC A,G 8.236e-06 11:116785186 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 0.027407 0.21139 0.23718 0.099367 0.425658651055865 0.135251 NA NA 4.08307e-06 ENSE00000747548_023 ENSE00000747548 023 11 116655759 116655928 - 56 48 66 C T 116655903 2626 26 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATATCTCAGTGTCCCCAACACCCTGCCCT 116785042 116785212 116785186 116785187 116785187 upstr_intron -41 -0.606060606060606 AGGGCAGGGTGTTGGGGACACTGAGATATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 1111 91 0.99936858282067 1 0.999684291410335 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA 0.0281378047552392 0.01235912988401 0.990555436854882 0.97943582409071 NA 0.0202484673196246 NA FALSE NA 0 -0.544 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 rs376290680 1 NA T:0.0002 T:0 ACC C,T 8.236e-06 11:116785187 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant -0.291913 0.15763 0.0563 0.099367 0.451530857507963 0.135251 NA NA NA ENSE00000747548_026 ENSE00000747548 026 11 116655759 116655928 - 56 48 66 C T 116655912 2629 17 CATCAGTCTCAGCCCACAACTCTGCTCCTTCCTCACCAGTAGCCAATGTGACTCACTTCATTTCTGAGATCTTCCTCTTCTGGCTTCTCTGCTGGTGCTTCTTCCTAAAATAGCAAAGATGCAGGTCGCAAGTTGGCAGGTATACCTCAGTGTTCCCAACACCCTGCCCT 116785042 116785212 116785195 116785196 116785196 upstr_intron -50 -0.742424242424242 AGGGCAGGGTGTTGGGAACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG AGGGCAGGGTGTTGGGGACACTGAGGTATACCTGCCAACTTGCGACCTGCATCTTTGCTATTTTAGGAAGAAGCACCAGCAGAGAAGCCAGAAGAGGAAGATCTCAGAAATGAAGTGAGTCACATTGGCTACTGGTGAGGAAGGAGCAGAGTTGTGGGCTGAGACTGATG mutant NA NA NA NA NA 41 62 0.932937725680302 0.996812311942025 0.964875018811164 0.998559157132546 0.982551716577219 0.97123077806543 0.98764087011599 NA NA -0.0382930523851284 0.00917144182603524 0.990555436854882 0.97943582409071 NA -0.0145608052795466 NA FALSE NA 0 -0.937 . downstream_gene_variant MODIFIER APOA5 HGNC 17288 ENST00000542499 1 NA TCC C,T 8.237e-06 11:116785196 ZPR1 HGNC Symbol protein_coding 14251 ENSG00000109917 ENSE00000747548 intron_variant 1.219136 0.16874 0.10061 0.099367 0.769998738005778 0.135251 NA NA 4.10243e-06 ENSE00000749561_000 ENSE00000749561 000 12 56733169 56733338 + 41 99 30 NA NA NA NA NA CTTCATTGCCCAGCCACATCCCAGTGGTACCTGACTGTTGTCCCTGAGTCCTTGGGGGTCACAGCCATCTCCACACTGGATATGGGGAACATCATTTGTAGTCTCTTCATCTCCCTCTTCTCTTAGATCCTGGAATGAAGGAAGAGGTGGAAAGAATGAAGAAGTAAGAT 56339384 56339554 NA NA NA NA NA NA ATCTTACTTCTTCATTCTTTCCACCTCTTCCTTCATTCCAGGATCTAAGAGAAGAGGGAGATGAAGAGACTACAAATGATGTTCCCCATATCCAGTGTGGAGATGGCTGTGACCCCCAAGGACTCAGGGACAACAGTCAGGTACCACTGGGATGTGGCTGGGCAATGAAG ATCTTACTTCTTCATTCTTTCCACCTCTTCCTTCATTCCAGGATCTAAGAGAAGAGGGAGATGAAGAGACTACAAATGATGTTCCCCATATCCAGTGTGGAGATGGCTGTGACCCCCAAGGACTCAGGGACAACAGTCAGGTACCACTGGGATGTGGCTGGGCAATGAAG natural NA NA NA NA NA 390 464 0.999152755750949 0.986844173837084 0.992998464794016 NA NA 0.999152755750949 0.986844173837084 NA NA 0 0 NA 0.992998464794016 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00000749561 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00000751004_000 ENSE00000751004 000 12 57859345 57859514 + 45 90 35 NA NA NA NA NA TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 NA NA NA NA NA NA TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC natural 497 788 0.85 0.850007058143283 0.850003529071641 1758 1505 0.934033794308651 0.847574678128735 0.890804236218693 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0 0 0 0 0.850003529071641 0.890804236218693 0 0 0 FALSE FALSE NA NA NA NA NA GLI1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLI1 NA NA NA ENSG00000111087 ENSE00000751004 NA NA NA NA NA NA NA 1.94829927539368e-06 FALSE NA ENSE00000751004_003 ENSE00000751004 003 12 57859345 57859514 + 45 90 35 C T 57859367 2186 23 TGCTTACTTCCACCCTCATCACTGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465583 57465584 57465584 upstr_intron -23 -0.488888888888889 TGCTTACTTCCACCCTCATCACTGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 186 630 0.8 0.803599563366318 0.801799781683159 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA -0.134033794308651 -0.043975114762417 0.850003529071641 0.890804236218693 NA -0.0890044545355339 NA FALSE NA 0 -0.286 . intron_variant MODIFIER GLI1 HGNC 4317 ENST00000228682 5/11 1 NA CCG C,T 4.942e-05 12:57465584 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 non_coding_transcript_exon_variant -0.153188 0.1648 0.01242 0.163922 0.706698738259013 0.271848 1.94829927539368e-06 FALSE 2.49628e-05 ENSE00000751004_004 ENSE00000751004 004 12 57859345 57859514 + 45 90 35 G A 57859368 2187 24 GGTCCCAGAGGTAAAGCTCCTGCCCATCCCCTTACCTGTATGCCTGTGGAGTTGGGGCTGGACATATCACCTTCCAAGGGTTCCTCCCGGCACTTGCCAACCAGCATGTCCAGCTCAGACTTCAGCTTCCCCAGGGGAAGAGGTGATGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465584 57465585 57465585 upstr_intron -22 -0.466666666666667 TGCTTACTTCCACCCTCATCACCATCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 21 26 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.850007058143283 0.934033794308651 0.847574678128735 1.11022302462516e-16 -7.05814328272325e-06 NA NA 0.850003529071641 0.890804236218693 -3.52907164130611e-06 NA NA NA FALSE 0.007 0.535 . intron_variant MODIFIER GLI1 HGNC 4317 ENST00000228682 5/11 1 NA CGT G,A 8.237e-06 12:57465585 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 non_coding_transcript_exon_variant 0.097499 0.22178 0.08117 0.163922 0.65630584032773 0.203301 1.94829927539368e-06 FALSE 2.07743e-05 ENSE00000751004_005 ENSE00000751004 005 12 57859345 57859514 + 45 90 35 C T 57859380 2188 36 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCTCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465596 57465597 57465597 upstr_intron -10 -0.2 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCTCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 266 14 0.995797569007834 0.95 0.972898784503917 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA 0.061763774699183 0.102425321871265 0.850003529071641 0.890804236218693 NA 0.0820945482852241 NA FALSE NA 0 -0.869 . intron_variant MODIFIER GLI1 HGNC 4317 ENST00000228682 5/11 1 NA CCC C,T 1.647e-05 12:57465597 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 non_coding_transcript_exon_variant 1.40976 0.17969 0.05516 0.163922 0.863088445888928 0.563365 1.94829927539368e-06 FALSE 1.6349e-05 ENSE00000751004_006 ENSE00000751004 006 12 57859345 57859514 + 45 90 35 G A 57859389 2189 45 GGTCCCAGAGGTAAAGCTCCTGCCCATCCCCTTACCTGTATGCCTGTGGAGTTGGGGCTGGACATATCACCTTCCAAGGGTTCCTCCCGGCACTTGCCAACCAGCATGTCCAGCTCAGACTTCAGTTTCCCCAGGGGAAGAGGTGACGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465605 57465606 57465606 upstr_intron -1 0 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAACTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 139 668 0.81657391799699 0.803395525201863 0.809984721599426 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA -0.117459876311661 -0.0441791529268724 0.850003529071641 0.890804236218693 NA -0.0808195146192668 NA FALSE NA 1 3.886 . splice_acceptor_variant HIGH GLI1 HGNC 4317 ENST00000228682 5/11 1 NA HC AGC G,A 8.236e-06 12:57465606 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 splice_acceptor_variant 5.104 0.99117 0.92904 0.322412 0.994578920272758 0.986492 1.94829927539368e-06 FALSE 4.07445e-06 ENSE00000751004_007 ENSE00000751004 007 12 57859345 57859514 + 45 90 35 C T 57859402 2190 58 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGTTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465618 57465619 57465619 exon 13 0.144444444444444 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGTTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 54 87 0.85 0.85 0.85 349 117 0.800747291304976 0.813276145167076 0.807011718236026 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0 -7.05814328261223e-06 -0.133286503003675 -0.034298532961659 0.850003529071641 0.890804236218693 -3.52907164130611e-06 -0.0837925179826669 0.0837889889110256 FALSE FALSE 0.802 0.599 . synonymous_variant LOW GLI1 HGNC 4317 ENST00000228682 6/12 1 NA GCT C,T 4.942e-05 12:57465619 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 synonymous_variant 0.996172 0.97545 0.7102 0.706548 0.705995038563936 0 1.94829927539368e-06 FALSE 3.25272e-05 ENSE00000751004_008 ENSE00000751004 008 12 57859345 57859514 + 45 90 35 T C 57859403 2191 59 GGTCCCAGAGGTAAAGCTCCTGCCCATCCCCTTACCTGTATGCCTGTGGAGTTGGGGCTGGACATATCACCTTCCAAGGGTTCCTCCCGGCACTTGCCAACCAGCATGTCCGGCTCAGACTTCAGCTTCCCCAGGGGAAGAGGTGACGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465619 57465620 57465620 exon 14 0.155555555555556 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCCGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 13 10 0.85 0.85 0.85 39 128 0.966983126713957 0.891061401467681 0.929022264090819 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0 -7.05814328261223e-06 0.0329493324053066 0.0434867233389458 0.850003529071641 0.890804236218693 -3.52907164130611e-06 0.0382180278721262 0.0382215569437675 FALSE FALSE 1 3.059 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 1 tolerated(0.09) probably_damaging(0.997) NA CTG T,C 8.236e-06 12:57465620 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 4.428877 0.97256 0.83693 0.706548 0.998058681945144 0 1.94829927539368e-06 FALSE 8.12962e-06 ENSE00000751004_009 ENSE00000751004 009 12 57859345 57859514 + 45 90 35 G C 57859410 2192 66 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATCCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465626 57465627 57465627 exon 21 0.233333333333333 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATCCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 19 124 0.952788543475432 0.879151476225262 0.915970009850347 NA NA NA NA NA 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0.102788543475432 0.0291444180819791 NA NA 0.850003529071641 0.890804236218693 0.0659664807787055 NA NA NA FALSE 1 1.756 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 1 tolerated(0.37) benign(0) NA TGC G,C 8.236e-06 12:57465627 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 1.509356 0.96185 0.79388 0.706548 0.956695160934517 0 1.94829927539368e-06 FALSE 4.06309e-06 ENSE00000751004_010 ENSE00000751004 010 12 57859345 57859514 + 45 90 35 A C 57859421 2193 77 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCACGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465637 57465638 57465638 exon 32 0.355555555555556 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCACGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 11 34 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0 -7.05814328261223e-06 NA NA 0.850003529071641 0.890804236218693 -3.52907164130611e-06 NA NA NA FALSE 1 3.905 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 1 deleterious(0.02) probably_damaging(0.982) NA AAG A,C 8.236e-06 12:57465638 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 4.97895 0.98361 0.95434 0.706548 0.997862873889112 0 1.94829927539368e-06 FALSE 8.12394e-06 ENSE00000751004_012 ENSE00000751004 012 12 57859345 57859514 + 45 90 35 C T 57859425 2195 81 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGTCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465641 57465642 57465642 exon 36 0.4 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGTCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 19 35 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0 -7.05814328261223e-06 NA NA 0.850003529071641 0.890804236218693 -3.52907164130611e-06 NA NA NA FALSE 0.968 0.892 rs142422942 synonymous_variant LOW GLI1 HGNC 4317 ENST00000228682 6/12 1 NA GCC C,T 8.236e-06 12:57465642 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 synonymous_variant 1.173123 0.77991 0.77886 0.706548 0.604937102758698 0 1.94829927539368e-06 FALSE NA ENSE00000751004_013 ENSE00000751004 013 12 57859345 57859514 + 45 90 35 C T 57859426 2196 82 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCTGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465642 57465643 57465643 exon 37 0.411111111111111 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCTGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 126 57 0.829272687933763 0.8 0.814636343966882 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA -0.104761106374888 -0.0475746781287349 0.850003529071641 0.890804236218693 NA -0.0761678922518113 NA FALSE NA 0.94 1.669 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 COSM3872164 1 deleterious(0.03) benign(0.339) NA CCG C,T 5.765e-05 12:57465643 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 5.048703 0.68158 0.68101 0.706548 0.998301191206791 0 1.94829927539368e-06 FALSE 4.46798e-05 ENSE00000751004_014 ENSE00000751004 014 12 57859345 57859514 + 45 90 35 G A 57859427 2197 83 GGTCCCAGAGGTAAAGCTCCTGCCCATCCCCTTACCTGTATGCCTGTGGAGTTGGGGCTGGACATATCACCTTCCAAGGGTTCCTCCTGGCACTTGCCAACCAGCATGTCCAGCTCAGACTTCAGCTTCCCCAGGGGAAGAGGTGACGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465643 57465644 57465644 exon 38 0.422222222222222 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCAGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 189 187 0.811870663286515 0.8 0.805935331643257 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA -0.122163131022136 -0.0475746781287349 0.850003529071641 0.890804236218693 NA -0.0848689045754354 NA FALSE NA 0.665 1.027 rs151317566 missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 rs151317566 1 tolerated(0.62) benign(0.001) A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 A:0.0009 A:0 CGG G,A 6.589e-05 12:57465644 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 0.770075 0.53023 0.29084 0.706548 0.854729151543288 0 1.94829927539368e-06 FALSE 5.6869e-05 ENSE00000751004_016 ENSE00000751004 016 12 57859345 57859514 + 45 90 35 G A 57859431 2199 87 GGTCCCAGAGGTAAAGCTCCTGCCCATCCCCTTACCTGTATGCCTGTGGAGTTGGGGCTGGACATATCACCTTCCAAGGGTTCTTCCCGGCACTTGCCAACCAGCATGTCCAGCTCAGACTTCAGCTTCCCCAGGGGAAGAGGTGACGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465647 57465648 57465648 exon 42 0.466666666666667 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAAGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 258 146 0.815887407973479 0.8 0.807943703986739 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA -0.118146386335172 -0.0475746781287351 0.850003529071641 0.890804236218693 NA -0.0828605322319534 NA FALSE NA 1 1.772 rs2228225 synonymous_variant LOW GLI1 HGNC 4317 ENST00000228682 6/12 rs2228225&COSM3998894 1 A:0.3630 A:0.1611 A:0.3934 NA A:0.3046 A:0.6233 A:0.407 A:0.2419 A:0.6286 AGG G,A 0.5 12:57465648 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 synonymous_variant 0.452686 0.96063 0.78618 0.706548 0.418083463568983 0 1.94829927539368e-06 FALSE 0.497169 ENSE00000751004_017 ENSE00000751004 017 12 57859345 57859514 + 45 90 35 C T 57859435 2200 91 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAATCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465651 57465652 57465652 exon -45 0.511111111111111 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAATCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 64 368 0.8 0.804106012354216 0.802053006177108 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA -0.134033794308651 -0.043468665774519 0.850003529071641 0.890804236218693 NA -0.0887512300415849 NA FALSE NA 0.62 -0.205 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 1 tolerated(0.44) benign(0.004) NA ACC C,T 8.236e-06 12:57465652 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 1.18056 0.66751 0.15259 0.706548 0.95394955659774 0 1.94829927539368e-06 FALSE 4.06101e-06 ENSE00000751004_018 ENSE00000751004 018 12 57859345 57859514 + 45 90 35 A G 57859448 2201 104 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGGTATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465664 57465665 57465665 exon -32 0.655555555555556 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGGTATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 21 10 0.0611640008305193 0 0.0305820004152596 NA NA NA NA NA 0.85 0.850007058143283 0.934033794308651 0.847574678128735 -0.788835999169481 -0.850007058143283 NA NA 0.850003529071641 0.890804236218693 -0.819421528656382 NA NA NA TRUE 1 4.251 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 1 deleterious(0.03) benign(0.001) NA GAT A,G 8.236e-06 12:57465665 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 3.631679 0.98309 0.94344 0.706548 0.986939989031447 0 1.94829927539368e-06 FALSE 4.06078e-06 ENSE00000751004_019 ENSE00000751004 019 12 57859345 57859514 + 45 90 35 T C 57859453 2202 109 GGTCCCAGAGGTAAAGCTCCTGCCCATCCCCTTACCTGTATGCCTGTGGAGTTGGGGCTGGGCATATCACCTTCCAAGGGTTCCTCCCGGCACTTGCCAACCAGCATGTCCAGCTCAGACTTCAGCTTCCCCAGGGGAAGAGGTGACGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465669 57465670 57465670 exon -27 0.711111111111111 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGCCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 60 439 0.962181339109332 0.872714565956875 0.917447952533104 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA 0.0281475448006814 0.0251398878281404 0.850003529071641 0.890804236218693 NA 0.0266437163144109 NA FALSE NA 1 3.461 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 1 tolerated(0.13) possibly_damaging(0.551) NA GTC T,C 8.236e-06 12:57465670 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 3.41981 0.96935 0.90585 0.706548 0.885921277127064 0 1.94829927539368e-06 FALSE 4.06081e-06 ENSE00000751004_020 ENSE00000751004 020 12 57859345 57859514 + 45 90 35 C T 57859460 2203 116 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCTCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465676 57465677 57465677 exon -20 0.788888888888889 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCTCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 12 18 0.85 0.85 0.85 356 37 0.943815664971427 1 0.971907832485714 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0 -7.05814328261223e-06 0.00978187066277647 0.152425321871265 0.850003529071641 0.890804236218693 -3.52907164130611e-06 0.0811035962670207 0.081107125338662 FALSE FALSE 1 6.723 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 1 deleterious(0.03) probably_damaging(0.999) NA CCC C,T 8.236e-06 12:57465677 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 7.025797 0.99242 0.99291 0.706548 0.995868314237732 0 1.94829927539368e-06 FALSE 4.06078e-06 ENSE00000751004_021 ENSE00000751004 021 12 57859345 57859514 + 45 90 35 T G 57859465 2204 121 GGTCCCAGAGGTAAAGCTCCTGCCCATCCCCTTACCTGTATGCCTGTGGCGTTGGGGCTGGACATATCACCTTCCAAGGGTTCCTCCCGGCACTTGCCAACCAGCATGTCCAGCTCAGACTTCAGCTTCCCCAGGGGAAGAGGTGACGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465681 57465682 57465682 exon -15 0.844444444444444 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACGCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 41 122 0.822790807077917 0.735347748762544 0.779069277920231 770 620 0.797233514271949 0.816831708866925 0.807032611569437 0.85 0.850007058143283 0.934033794308651 0.847574678128735 -0.0272091929220828 -0.114659309380739 -0.136800280036702 -0.03074296926181 0.850003529071641 0.890804236218693 -0.0709342511514107 -0.0837716246492557 0.0128373734978451 FALSE FALSE 1 6.911 . missense_variant MODERATE GLI1 HGNC 4317 ENST00000228682 6/12 COSM1363304 1 deleterious(0.02) probably_damaging(0.983) NA CTC T,G 8.236e-06 12:57465682 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 missense_variant 4.177802 0.98401 0.99058 0.706548 0.989521339026237 0 1.94829927539368e-06 FALSE 4.06075e-06 ENSE00000751004_023 ENSE00000751004 023 12 57859345 57859514 + 45 90 35 G T 57859486 2206 142 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGTGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 57465702 57465703 57465703 downstr_intron 7 1.20588235294118 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGTGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant NA NA NA NA NA 129 1870 0.802018733856623 0.941543093415914 0.871780913636269 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA -0.132015060452028 0.0939684152871793 0.850003529071641 0.890804236218693 NA -0.0190233225824244 NA FALSE NA 0 1.295 . splice_region_variant&intron_variant LOW GLI1 HGNC 4317 ENST00000228682 6/11 rs576644827 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GGG G,T 1.647e-05 12:57465703 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 splice_region_variant -0.250479 0.25676 0.19414 0.099367 0.398847347969308 0.332968 1.94829927539368e-06 FALSE 8.12282e-06 ENSE00000751004_025 ENSE00000751004 025 12 57859345 57859514 + 45 90 35 G A 57859491 2208 147 GGTCCCAGAGGTAAAGCTCCTGCTCATCCCCTTACCTGTATGCCTGTGGAGTTGGGGCTGGACATATCACCTTCCAAGGGTTCCTCCCGGCACTTGCCAACCAGCATGTCCAGCTCAGACTTCAGCTTCCCCAGGGGAAGAGGTGACGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465707 57465708 57465708 downstr_intron 12 1.35294117647059 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGAGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 10 18 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0 -7.05814328261223e-06 NA NA 0.850003529071641 0.890804236218693 -3.52907164130611e-06 NA NA NA FALSE 0 -1.12 rs192088076 intron_variant MODIFIER GLI1 HGNC 4317 ENST00000228682 6/11 rs192088076 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGG G,A 8.236e-06 12:57465708 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 intron_variant -0.068007 0.17542 0.00868 0.099367 0.364416569177074 0.164014 1.94829927539368e-06 FALSE 4.06207e-06 ENSE00000751004_027 ENSE00000751004 027 12 57859345 57859514 + 45 90 35 T C 57859501 2210 157 GGTCCCAGAGGTAGAGCTCCTGCCCATCCCCTTACCTGTATGCCTGTGGAGTTGGGGCTGGACATATCACCTTCCAAGGGTTCCTCCCGGCACTTGCCAACCAGCATGTCCAGCTCAGACTTCAGCTTCCCCAGGGGAAGAGGTGACGGTGATGAGGGTGGAAGTAAGCA 57465561 57465731 57465717 57465718 57465718 downstr_intron 22 1.64705882352941 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTCTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 35 98 0.834178740962627 0.85 0.842089370481313 753 95 0.821904327001931 0.8 0.810952163500965 0.85 0.850007058143283 0.934033794308651 0.847574678128735 -0.0158212590373732 -7.05814328272325e-06 -0.11212946730672 -0.0475746781287349 0.850003529071641 0.890804236218693 -0.00791415859032796 -0.0798520727177275 0.0719379141273996 FALSE FALSE 0 0.084 . intron_variant MODIFIER GLI1 HGNC 4317 ENST00000228682 6/11 1 NA TTT T,C 8.236e-06 12:57465718 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 intron_variant 0.000823 0.22213 0.01775 0.156188 0.668383183175494 0.106825 1.94829927539368e-06 FALSE 4.06227e-06 ENSE00000751004_028 ENSE00000751004 028 12 57859345 57859514 + 45 90 35 A T 57859503 2211 159 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTTCCTCTGGGACC 57465561 57465731 57465719 57465720 57465720 downstr_intron 24 1.70588235294118 TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTTCCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC mutant 42 38 0.963274535231128 0.85 0.906637267615564 757 28 0.856891849900756 0.8 0.828445924950378 0.85 0.850007058143283 0.934033794308651 0.847574678128735 0.113274535231128 -7.05814328261223e-06 -0.0771419444078951 -0.0475746781287349 0.850003529071641 0.890804236218693 0.0566337385439227 -0.062358311268315 0.118992049812238 FALSE FALSE 0 -0.663 . intron_variant MODIFIER GLI1 HGNC 4317 ENST00000228682 6/11 rs369214675 1 NA T:0 T:0.0001 TAC A,T 8.236e-06 12:57465720 GLI1 HGNC Symbol protein_coding 12127 ENSG00000111087 ENSE00000751004 intron_variant -0.135176 0.18876 0.0393 0.156188 0.636063918412378 0.106825 1.94829927539368e-06 FALSE 4.06349e-06 ENSE00000751004_BRK ENSE00000751004 BRK 12 57859345 57859514 + 45 90 35 A,G; T,T NA NA NA TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGATTCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGCCAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC 57465561 57465731 NA NA NA NA NA NA TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGATTCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGCCAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC TGCTTACTTCCACCCTCATCACCGTCACCTCTTCCCCTGGGGAAGCTGAAGTCTGAGCTGGACATGCTGGTTGGCAAGTGCCGGGAGGAACCCTTGGAAGGTGATATGTCCAGCCCCAACTCCACAGGCATACAGGTAAGGGGATGGGCAGGAGCTTTACCTCTGGGACC control NA NA NA NA NA 299 187 0.0858070104812533 0 0.0429035052406267 0.85 0.850007058143283 0.934033794308651 0.847574678128735 NA NA -0.848226783827398 -0.847574678128735 0.850003529071641 0.890804236218693 NA -0.847900730978066 NA TRUE NA NA NA NA NA NA GLI1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLI1 NA NA NA ENSG00000111087 ENSE00000751004 NA NA NA NA NA NA NA 1.94829927539368e-06 FALSE NA ENSE00000752986_000 ENSE00000752986 000 12 91363789 91363958 - 32 96 42 NA NA NA NA NA TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 NA NA NA NA NA NA TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG natural NA NA NA NA NA 1743 2051 0.986352536113987 0.846435230135013 0.9163938831245 NA NA 0.986352536113987 0.846435230135013 NA NA 0 0 NA 0.9163938831245 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPYC NA NA NA ENSG00000083782 ENSE00000752986 NA NA NA NA NA NA NA 5.0529732963996e-05 FALSE NA ENSE00000752986_001 ENSE00000752986 001 12 91363789 91363958 - 32 96 42 G C 91363833 2549 126 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCGCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970055 90970056 90970056 exon -13 0.875 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCGCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 1365 2381 0.99591976613469 0.998635466153121 0.997277616143905 NA NA 0.986352536113987 0.846435230135013 NA NA 0.00956723002070325 0.152200236018108 NA 0.9163938831245 NA 0.0808837330194055 NA FALSE NA 0.131 -0.436 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:90970056 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 synonymous_variant 0.222792 0.94643 0.24903 0.487112 0.447097512133302 0 5.0529732963996e-05 FALSE 3.25135e-05 ENSE00000752986_002 ENSE00000752986 002 12 91363789 91363958 - 32 96 42 G T 91363833 2550 126 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCACTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970055 90970056 90970056 exon -13 0.875 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCACTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 1853 1751 0.998164491480959 0.992710194043578 0.995437342762269 NA NA 0.986352536113987 0.846435230135013 NA NA 0.0118119553669723 0.146274963908565 NA 0.9163938831245 NA 0.0790434596377689 NA FALSE NA 0.131 -0.436 NA NA NA EPYC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPYC NA NA NA ENSG00000083782 ENSE00000752986 synonymous_variant 0.264389 0.94405 0.19496 0.487112 0.479746621821737 0 5.0529732963996e-05 FALSE 4.06418e-06 ENSE00000752986_005 ENSE00000752986 005 12 91363789 91363958 - 32 96 42 T C 91363846 2553 113 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGGAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970068 90970069 90970069 exon -26 0.739583333333333 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGGAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant 26 18 0.947191667597147 1 0.973595833798574 275 309 1 1 1 NA NA 0.986352536113987 0.846435230135013 NA NA 0.013647463886013 0.153564769864987 NA 0.9163938831245 NA 0.0836061168755001 NA FALSE NA 1 4.741 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 COSM1205565 1 NA TTC T,C 8.236e-06 12:90970069 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 1.596853 0.97764 0.93808 0.487112 0.983479768208693 0 5.0529732963996e-05 FALSE 4.06342e-06 ENSE00000752986_006 ENSE00000752986 006 12 91363789 91363958 - 32 96 42 T C 91363848 2554 111 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCGGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970070 90970071 90970071 exon -28 0.71875 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCGGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 269 891 1 1 1 NA NA 0.986352536113987 0.846435230135013 NA NA 0.013647463886013 0.153564769864987 NA 0.9163938831245 NA 0.0836061168755001 NA FALSE NA 0.997 0.427 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA CTG T,C 8.236e-06 12:90970071 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 synonymous_variant -0.522396 0.96788 0.77196 0.487112 0.577890934985273 0 5.0529732963996e-05 FALSE NA ENSE00000752986_008 ENSE00000752986 008 12 91363789 91363958 - 32 96 42 G C 91363862 2556 97 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCGCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970084 90970085 90970085 exon -42 0.572916666666667 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCGCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 156 316 1 0.998418840611075 0.999209420305537 NA NA 0.986352536113987 0.846435230135013 NA NA 0.013647463886013 0.151983610476062 NA 0.9163938831245 NA 0.0828155371810373 NA FALSE NA 1 9.283 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA GGG G,C 8.236e-06 12:90970085 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 5.249445 0.9938 0.99164 0.487112 0.994975944532553 0 5.0529732963996e-05 FALSE 8.12546e-06 ENSE00000752986_009 ENSE00000752986 009 12 91363789 91363958 - 32 96 42 A G 91363864 2557 95 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACACCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970086 90970087 90970087 exon -44 0.552083333333333 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACACCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 583 342 1 1 1 NA NA 0.986352536113987 0.846435230135013 NA NA 0.013647463886013 0.153564769864987 NA 0.9163938831245 NA 0.0836061168755001 NA FALSE NA 1 8.78 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA GAT A,G 1.647e-05 12:90970087 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 5.967375 0.99155 0.98848 0.487112 0.998480308011642 0 5.0529732963996e-05 FALSE 1.21888e-05 ENSE00000752986_011 ENSE00000752986 011 12 91363789 91363958 - 32 96 42 A G 91363874 2559 85 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACCTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970096 90970097 90970097 exon 43 0.447916666666667 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACCTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant 10 19 0.85 0.936787032916377 0.893393516458189 136 5960 0.941657717265021 0.823996833681871 0.882827275473446 NA NA 0.986352536113987 0.846435230135013 NA NA -0.0446948188489656 -0.0224383964531421 NA 0.9163938831245 NA -0.0335666076510538 NA FALSE NA 0.999 0.763 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA AAG A,G 8.236e-06 12:90970097 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 synonymous_variant 0.35906 0.97347 0.76422 0.487112 0.746742541177312 0 5.0529732963996e-05 FALSE 8.12671e-06 ENSE00000752986_012 ENSE00000752986 012 12 91363789 91363958 - 32 96 42 G C 91363878 2560 81 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAAGAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970100 90970101 90970101 exon 39 0.40625 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAAGAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 73 1189 1 0.997691014792489 0.998845507396245 NA NA 0.986352536113987 0.846435230135013 NA NA 0.013647463886013 0.151255784657476 NA 0.9163938831245 NA 0.0824516242717447 NA FALSE NA 1 4.888 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA TGT G,C 8.236e-06 12:90970101 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 6.129135 0.98136 0.95764 0.487112 0.998236066240249 0 5.0529732963996e-05 FALSE NA ENSE00000752986_013 ENSE00000752986 013 12 91363789 91363958 - 32 96 42 A G 91363881 2561 78 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGACAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970103 90970104 90970104 exon 36 0.375 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGACAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 817 429 0.999848788232679 1 0.999924394116339 NA NA 0.986352536113987 0.846435230135013 NA NA 0.0134962521186918 0.153564769864987 NA 0.9163938831245 NA 0.0835305109918394 NA FALSE NA 1 3.671 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA TAT A,G 8.236e-06 12:90970104 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 synonymous_variant 0.646671 0.9758 0.68152 0.487112 0.585785628880801 0 5.0529732963996e-05 FALSE 4.06395e-06 ENSE00000752986_014 ENSE00000752986 014 12 91363789 91363958 - 32 96 42 T C 91363897 2562 62 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCGTCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970119 90970120 90970120 exon 20 0.208333333333333 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCGTCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 943 194 1 1 1 NA NA 0.986352536113987 0.846435230135013 NA NA 0.013647463886013 0.153564769864987 NA 0.9163938831245 NA 0.0836061168755001 NA FALSE NA 1 4.483 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA ATG T,C 8.236e-06 12:90970120 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 2.632879 0.98579 0.95225 0.487112 0.97527137087477 0 5.0529732963996e-05 FALSE 4.06597e-06 ENSE00000752986_015 ENSE00000752986 015 12 91363789 91363958 - 32 96 42 T C 91363900 2563 59 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCGTCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970122 90970123 90970123 exon 17 0.177083333333333 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCGTCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 1315 118 0.968142186098155 0.994600632084006 0.98137140909108 NA NA 0.986352536113987 0.846435230135013 NA NA -0.0182103500158324 0.148165401948993 NA 0.9163938831245 NA 0.0649775259665803 NA FALSE NA 1 2.895 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA ATG T,C 8.236e-06 12:90970123 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 0.672424 0.97715 0.88814 0.487112 0.777238503653951 0 5.0529732963996e-05 FALSE 4.06689e-06 ENSE00000752986_018 ENSE00000752986 018 12 91363789 91363958 - 32 96 42 C G 91363907 2566 52 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATCATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970129 90970130 90970130 exon 10 0.104166666666667 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATCATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 1149 661 0.962362539865285 0.990965865071296 0.976664202468291 NA NA 0.986352536113987 0.846435230135013 NA NA -0.0239899962487017 0.144530634936284 NA 0.9163938831245 NA 0.060270319343791 NA FALSE NA 0.996 2.855 NA NA NA EPYC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:90970130 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 3.051785 0.98286 0.93037 0.487112 0.98205683050842 0 5.0529732963996e-05 FALSE 4.07037e-06 ENSE00000752986_019 ENSE00000752986 019 12 91363789 91363958 - 32 96 42 A G 91363910 2567 49 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGCATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970132 90970133 90970133 exon 7 0.0729166666666667 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGCATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 913 369 0.998776580146943 0.999896798643667 0.999336689395305 NA NA 0.986352536113987 0.846435230135013 NA NA 0.0124240440329556 0.153461568508654 NA 0.9163938831245 NA 0.0829428062708046 NA FALSE NA 0.98 0.69 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 rs578156900 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAC A,G 8.236e-06 12:90970133 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 2.26133 0.96933 0.74416 0.487112 0.937953021509437 0 5.0529732963996e-05 FALSE 4.06984e-06 ENSE00000752986_020 ENSE00000752986 020 12 91363789 91363958 - 32 96 42 A G 91363912 2568 47 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACACGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970134 90970135 90970135 exon 5 0.0520833333333333 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACACGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant 11 38 0.914979313124345 0.90240628675971 0.908692799942027 1108 1212 0.999169142069635 0.998318239764519 0.998743690917077 NA NA 0.986352536113987 0.846435230135013 NA NA 0.0128166059556485 0.151883009629507 NA 0.9163938831245 NA 0.0823498077925775 NA FALSE NA 1 8.78 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA CAT A,G 1.647e-05 12:90970135 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 5.528932 0.99155 0.98848 0.487112 0.993034681225143 0 5.0529732963996e-05 FALSE 8.14631e-06 ENSE00000752986_021 ENSE00000752986 021 12 91363789 91363958 - 32 96 42 T A 91363913 2569 46 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACTTGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970135 90970136 90970136 exon 4 0.0416666666666667 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACTTGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 484 186 0.999232227557491 1 0.999616113778746 NA NA 0.986352536113987 0.846435230135013 NA NA 0.0128796914435043 0.153564769864987 NA 0.9163938831245 NA 0.0832222306542457 NA FALSE NA 1 5.935 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA ATG T,A 3.295e-05 12:90970136 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 2.171946 0.98573 0.98259 0.487112 0.799636642985989 0 5.0529732963996e-05 FALSE 1.22344e-05 ENSE00000752986_022 ENSE00000752986 022 12 91363789 91363958 - 32 96 42 C T 91363916 2570 43 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGAACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970138 90970139 90970139 exon 1 0.0104166666666667 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGAACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant 16 43 0.85 0.85 0.85 2350 497 0.939489023679755 0.921805740516481 0.930647382098118 NA NA 0.986352536113987 0.846435230135013 NA NA -0.046863512434232 0.0753705103814679 NA 0.9163938831245 NA 0.0142534989736179 NA FALSE NA 1 5.628 rs116772978 downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 rs116772978&COSM320159 1 NA TCC C,T 1.647e-05 12:90970139 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 missense_variant 3.836836 0.98836 0.96055 0.487112 0.998482416068089 0 5.0529732963996e-05 FALSE NA ENSE00000752986_023 ENSE00000752986 023 12 91363789 91363958 - 32 96 42 G A 91363919 2571 40 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTATAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970141 90970142 90970142 upstr_intron -3 -0.0476190476190476 TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTATAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 112 287 0.804636035045755 0.82786880346942 0.816252419257588 NA NA 0.986352536113987 0.846435230135013 NA NA -0.181716501068232 -0.0185664266655928 NA 0.9163938831245 NA -0.100141463866912 NA FALSE NA 1 2.017 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 rs201156291 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 9.06e-05 12:90970142 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 splice_region_variant 1.670642 0.73846 0.3628 0.084569 0.786337358343229 0.434914 5.0529732963996e-05 FALSE 9.42005e-05 ENSE00000752986_025 ENSE00000752986 025 12 91363789 91363958 - 32 96 42 A G 91363945 2573 14 TATTGAGTTTTTACTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 90970167 90970168 90970168 upstr_intron -29 -0.666666666666667 TATTGAGTTTTTACTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG mutant NA NA NA NA NA 264 900 1 1 1 NA NA 0.986352536113987 0.846435230135013 NA NA 0.013647463886013 0.153564769864987 NA 0.9163938831245 NA 0.0836061168755001 NA FALSE NA 0 -1.738 . downstream_gene_variant MODIFIER EPYC HGNC 3053 ENST00000551767 1 NA AAT A,G 8.262e-06 12:90970168 EPYC HGNC Symbol protein_coding 41347 ENSG00000083782 ENSE00000752986 intron_variant 1.804453 0.13603 0.0289 0.084569 0.781000101338564 0.0414318 5.0529732963996e-05 FALSE 8.42588e-06 ENSE00000752986_BRK ENSE00000752986 BRK 12 91363789 91363958 - 32 96 42 A,G; T,T NA NA NA TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACTTGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGCCAGGAGTCTACCAGTAAGGTGCGCCCAAGGG 90970011 90970181 NA NA NA NA NA NA TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACTTGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGCCAGGAGTCTACCAGTAAGGTGCGCCCAAGGG TATTGAGTTTTTATTGAGTTCCCACATTTGGAATGTTTACAGGACATGTATGATCTCCATCATCTGTACCTCACTGATAACAACTTGGACCACATCCCTCTGCCACTCCCAGAAAATCTACGAGCCCTTCACCTCCAGGTAGGAGTCTACCAGTAAGGTGCGCCCAAGGG control 72 31 0 0 0 426 1104 0.0182636146759344 0 0.00913180733796722 NA NA 0.986352536113987 0.846435230135013 NA NA -0.968088921438053 -0.846435230135013 NA 0.9163938831245 NA -0.907262075786533 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00000752986 NA NA NA NA NA NA NA NA NA NA ENSE00000753621_000 ENSE00000753621 000 5 74695997 74696166 - 33 93 44 NA NA NA NA NA TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC 75400171 75400341 NA NA NA NA NA NA TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC natural NA NA NA NA NA 746 1301 0.993303077678086 0.994562245709683 0.993932661693885 NA NA 0.993303077678086 0.994562245709683 NA NA 0 0 NA 0.993932661693885 NA 0 NA FALSE NA NA NA NA NA NA COL4A3BP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A3BP NA NA NA ENSG00000113163 ENSE00000753621 NA NA NA NA NA NA NA 0.979474243191344 TRUE NA ENSE00000753621_002 ENSE00000753621 002 5 74695997 74696166 - 33 93 44 G C 74696024 718 143 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGGTAATGTCAGAGTTTACTAAAAGTACAC 75400171 75400341 75400198 75400199 75400199 downstr_intron 6 1.1875 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGGTAATGTCAGAGTTTACTAAAAGTACAC TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC mutant NA NA NA NA NA 24 726 1 0.999293217800238 0.999646608900119 NA NA 0.993303077678086 0.994562245709683 NA NA 0.00669692232191355 0.00473097209055551 NA 0.993932661693885 NA 0.00571394720623453 NA FALSE NA 0.103 -0.131 . splice_region_variant&intron_variant LOW COL4A3BP HGNC 2205 ENST00000357457 1/7 1 NA AGC G,C 8.237e-06 5:75400199 COL4A3BP HGNC Symbol protein_coding 155793 ENSG00000113163 ENSE00000753621 splice_region_variant 1.130412 0.20811 0.04133 0.322412 0.670379358439827 0.210066 0.979474243191344 TRUE 4.08053e-06 ENSE00000753621_003 ENSE00000753621 003 5 74695997 74696166 - 33 93 44 G T 74696036 719 131 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTACAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC 75400171 75400341 75400210 75400211 75400211 exon -7 0.935483870967742 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTACAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC mutant NA NA NA NA NA 27 117 1 1 1 NA NA 0.993303077678086 0.994562245709683 NA NA 0.00669692232191355 0.00543775429031723 NA 0.993932661693885 NA 0.00606733830611539 NA FALSE NA 0.998 0.28 . synonymous_variant LOW COL4A3BP HGNC 2205 ENST00000357457 1/8 rs564849044 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 GGA G,T 0.000593 5:75400211 COL4A3BP HGNC Symbol protein_coding 155793 ENSG00000113163 ENSE00000753621 synonymous_variant 0.92392 0.95745 0.74645 0.732398 0.719612896689243 0 0.979474243191344 TRUE 0.000508643 ENSE00000753621_010 ENSE00000753621 010 5 74695997 74696166 - 33 93 44 T C 74696097 726 70 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACGTTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC 75400171 75400341 75400271 75400272 75400272 exon 26 0.279569892473118 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACGTTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC mutant NA NA NA NA NA 383 181 0.999461507465319 0.988902738796042 0.994182123130681 NA NA 0.993303077678086 0.994562245709683 NA NA 0.00615842978723269 -0.00565950691364048 NA 0.993932661693885 NA 0.000249461436796106 NA FALSE NA 1 4.943 . upstream_gene_variant MODIFIER COL4A3BP HGNC 2205 ENST00000357457 1 NA ATG T,C 8.236e-06 5:75400272 COL4A3BP HGNC Symbol protein_coding 155793 ENSG00000113163 ENSE00000753621 missense_variant 1.379483 0.9804 0.94386 0.732398 0.979729376403982 0 0.979474243191344 TRUE 4.06451e-06 ENSE00000753621_011 ENSE00000753621 011 5 74695997 74696166 - 33 93 44 T C 74696099 727 68 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTGCATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC 75400171 75400341 75400273 75400274 75400274 exon 24 0.258064516129032 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTGCATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC mutant NA NA NA NA NA 142 223 1 1 1 NA NA 0.993303077678086 0.994562245709683 NA NA 0.00669692232191355 0.00543775429031723 NA 0.993932661693885 NA 0.00606733830611539 NA FALSE NA 1 0.72 . upstream_gene_variant MODIFIER COL4A3BP HGNC 2205 ENST00000357457 1 NA GTA T,C 8.236e-06 5:75400274 COL4A3BP HGNC Symbol protein_coding 155793 ENSG00000113163 ENSE00000753621 synonymous_variant 0.202356 0.96001 0.82072 0.732398 0.762749853950212 0 0.979474243191344 TRUE 8.12995e-06 ENSE00000753621_012 ENSE00000753621 012 5 74695997 74696166 - 33 93 44 T C 74696102 728 65 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGGTTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC 75400171 75400341 75400276 75400277 75400277 exon 21 0.225806451612903 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGGTTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC mutant NA NA NA NA NA 379 1240 0.964271060551405 0.965990133579506 0.965130597065456 NA NA 0.993303077678086 0.994562245709683 NA NA -0.0290320171266815 -0.0285721121301767 NA 0.993932661693885 NA -0.0288020646284291 NA FALSE NA 0.996 0.265 . upstream_gene_variant MODIFIER COL4A3BP HGNC 2205 ENST00000357457 1 NA ATC T,C 8.236e-06 5:75400277 COL4A3BP HGNC Symbol protein_coding 155793 ENSG00000113163 ENSE00000753621 synonymous_variant 0.594366 0.94749 0.39969 0.732398 0.639346645331666 0 0.979474243191344 TRUE 4.06537e-06 ENSE00000753621_014 ENSE00000753621 014 5 74695997 74696166 - 33 93 44 A G 74696125 730 42 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTCAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC 75400171 75400341 75400299 75400300 75400300 upstr_intron -3 -0.0454545454545455 TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTCAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC TACACTTTAAAACCTTCCCATCTTAATATTATATGTTTTTTTAGTCACAGAGTGAAAAGGTGAGATTACATTGGCCTACATCCTTGCCCTCTGGAGATGCCTTTTCTTCTGTGGGGACACATAGATTTGTCCAAAAGGTAAGCTAATGTCAGAGTTTACTAAAAGTACAC mutant NA NA NA NA NA 986 26 1 1 1 NA NA 0.993303077678086 0.994562245709683 NA NA 0.00669692232191355 0.00543775429031723 NA 0.993932661693885 NA 0.00606733830611539 NA FALSE NA 0.858 0.257 . upstream_gene_variant MODIFIER COL4A3BP HGNC 2205 ENST00000357457 rs373894836&COSM3686325&COSM3686324 1 NA G:0.0002 G:0 TAA A,G 8.237e-06 5:75400300 COL4A3BP HGNC Symbol protein_coding 155793 ENSG00000113163 ENSE00000753621 splice_region_variant 1.084887 0.1319 0.1423 0.106106 0.638739965992599 0.267826 0.979474243191344 TRUE 4.11452e-06 ENSE00000753970_000 ENSE00000753970 000 12 101755699 101755868 + 41 99 30 NA NA NA NA NA CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 NA NA NA NA NA NA CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT natural 258 155 0.996926706363802 0.993719924069353 0.995323315216578 10914 6479 0.923243841901619 0.929833572921495 0.926538707411557 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 0 0 0 0 0.995323315216578 0.926538707411557 0 0 0 FALSE FALSE NA NA NA NA NA snoU13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTP20 NA NA NA ENSG00000120800 ENSE00000753970 NA NA NA NA NA NA NA 0.170231062921548 FALSE NA ENSE00000753970_001 ENSE00000753970 001 12 101755699 101755868 + 41 99 30 T C 101755714 2630 16 CATTGTTAATATTCACGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101361935 101361936 101361936 upstr_intron -26 -0.609756097560976 CATTGTTAATATTCACGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 1109 848 0.912227763352558 0.999813454467479 0.956020608910019 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA -0.0110160785490608 0.069979881545984 0.995323315216578 0.926538707411557 NA 0.0294819014984616 NA FALSE NA 0.002 0.749 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs372348873 1 NA C:0 C:0.0001 ATG T,C 1.647e-05 12:101361936 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 intron_variant 0.162079 0.2535 0.04779 0.163922 0.47058788812853 0.0455939 0.170231062921548 FALSE 1.63096e-05 ENSE00000753970_002 ENSE00000753970 002 12 101755699 101755868 + 41 99 30 T C 101755727 2631 29 CATTGTTAATATTCATGTTGTTGCTGTGCGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101361948 101361949 101361949 upstr_intron -13 -0.292682926829268 CATTGTTAATATTCATGTTGTTGCTGTGCGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant 25 13 1 0.999086410593116 0.999543205296558 3143 708 0.989069651613907 1 0.994534825806954 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 0.00307329363619757 0.00536648652376259 0.0658258097122882 0.0701664270785047 0.995323315216578 0.926538707411557 0.00421989007998008 0.0679961183953965 0.0637762283154164 FALSE FALSE 0 -1.011 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA GTG T,C 8.236e-06 12:101361949 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 intron_variant 0.202101 0.18523 0.0118 0.163922 0.629035272112816 0.119254 0.170231062921548 FALSE 4.06941e-06 ENSE00000753970_003 ENSE00000753970 003 12 101755699 101755868 + 41 99 30 G A 101755740 2632 42 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGATCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101361961 101361962 101361962 exon 1 0.0101010101010101 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGATCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 1793 936 0.996085660838873 0.98871377750374 0.992399719171307 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.0728418189372541 0.0588802045822449 0.995323315216578 0.926538707411557 NA 0.0658610117597495 NA FALSE NA 1 3.745 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA GGT G,A 8.236e-06 12:101361962 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 4.02923 0.98774 0.94431 0.706548 0.997466653858377 0 0.170231062921548 FALSE 8.12982e-06 ENSE00000753970_004 ENSE00000753970 004 12 101755699 101755868 + 41 99 30 G C 101755748 2633 50 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTCCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101361969 101361970 101361970 exon 9 0.0909090909090909 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTCCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant 17 14 1 1 1 980 402 1 0.998350624204937 0.999175312102468 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 0.00307329363619757 0.00628007593064672 0.0767561580983811 0.0685170512834417 0.995323315216578 0.926538707411557 0.00467668478342215 0.0726366046909114 0.0679599199074892 FALSE FALSE 1 1.915 rs146441154 upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs146441154 1 NA C:0.0025 C:0 TGC G,C 0.0001565 12:101361970 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 synonymous_variant 0.645349 0.97827 0.92233 0.706548 0.640085165258146 0 0.170231062921548 FALSE 0.000105683 ENSE00000753970_005 ENSE00000753970 005 12 101755699 101755868 + 41 99 30 A C 101755752 2634 54 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGCCTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101361973 101361974 101361974 exon 13 0.131313131313131 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGCCTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant 18 12 0.986775188969184 0.996010487068667 0.991392838018925 1056 700 0.721798249022687 0.668349335826358 0.695073792424522 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 -0.0101515173946183 0.00229056299931329 -0.201445592878932 -0.261484237095138 0.995323315216578 0.926538707411557 -0.00393047719765249 -0.231464914987035 0.227534437789382 FALSE FALSE 1 8.323 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA GAC A,C 1.647e-05 12:101361974 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 4.804875 0.99335 0.99187 0.706548 0.994917085961415 0 0.170231062921548 FALSE 1.6257e-05 ENSE00000753970_007 ENSE00000753970 007 12 101755699 101755868 + 41 99 30 G A 101755761 2636 63 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCATTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101361982 101361983 101361983 exon 22 0.222222222222222 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCATTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 1169 1046 0.833120234547649 0.999963608659868 0.916541921603759 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA -0.0901236073539697 0.0701300357383732 0.995323315216578 0.926538707411557 NA -0.00999678580779828 NA FALSE NA 1 4.836 rs76643734 upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs76643734 1 A:0.0012 A:0.003 A:0.0014 NA A:0 A:0 A:0.001 A:0.005 A:0 CGT G,A 0.0007413 12:101361983 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 2.774688 0.98617 0.96268 0.706548 0.984516423908369 0 0.170231062921548 FALSE 0.000780412 ENSE00000753970_008 ENSE00000753970 008 12 101755699 101755868 + 41 99 30 G T 101755772 2637 74 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTTCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101361993 101361994 101361994 exon 33 0.333333333333333 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTTCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 147 1246 1 0.996329353953435 0.998164676976718 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.0767561580983811 0.0664957810319398 0.995323315216578 0.926538707411557 NA 0.0716259695651604 NA FALSE NA 1 4.632 rs144773469 upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs144773469 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0016 T:0 TGC G,T 0.000173 12:101361994 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 synonymous_variant 1.026864 0.98437 0.95951 0.706548 0.710629108650589 0 0.170231062921548 FALSE 0.000105661 ENSE00000753970_009 ENSE00000753970 009 12 101755699 101755868 + 41 99 30 A G 101755788 2638 90 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCGATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362009 101362010 101362010 exon 49 0.494949494949495 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCGATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 2072 1169 0.996505519314443 0.997847960936773 0.997176740125608 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.0732616774128237 0.0680143880152781 0.995323315216578 0.926538707411557 NA 0.0706380327140509 NA FALSE NA 0 0.75 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA CAA A,G 8.236e-06 12:101362010 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 1.61463 0.34692 0.12527 0.706548 0.857439329331516 0 0.170231062921548 FALSE 4.06388e-06 ENSE00000753970_010 ENSE00000753970 010 12 101755699 101755868 + 41 99 30 A G 101755789 2639 91 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAGTAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362010 101362011 101362011 exon -50 0.505050505050505 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAGTAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 1621 1389 0.980789119588825 0.996721717662484 0.988755418625655 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.0575452776872065 0.0668881447409891 0.995323315216578 0.926538707411557 NA 0.0622167112140978 NA FALSE NA 0 -0.122 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA AAT A,G 1.647e-05 12:101362011 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant -1.17606 0.22028 0.03939 0.706548 0.604555348227687 0 0.170231062921548 FALSE 4.06375e-05 ENSE00000753970_011 ENSE00000753970 011 12 101755699 101755868 + 41 99 30 G A 101755800 2640 102 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGATCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362021 101362022 101362022 exon -39 0.616161616161616 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGATCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant 36 32 0.993079165433906 1 0.996539582716953 2048 636 0.91241849544456 0.999751252158931 0.956084873801745 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 -0.00384754092989659 0.00628007593064672 -0.0108253464570591 0.0699176792374359 0.995323315216578 0.926538707411557 0.00121626750037507 0.0295461663901884 0.0283298988898133 FALSE FALSE 0.814 2.587 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs376472973 1 NA A:0 A:0.0001 GGT G,A 4.118e-05 12:101362022 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 1.925615 0.43759 0.68083 0.706548 0.98238240039998 0 0.170231062921548 FALSE 2.43883e-05 ENSE00000753970_012 ENSE00000753970 012 12 101755699 101755868 + 41 99 30 C T 101755802 2641 104 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTTGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362023 101362024 101362024 exon -37 0.636363636363636 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTTGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 1094 1702 0.997490475319761 0.997343601765334 0.997417038542547 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.074246633418142 0.0675100288438383 0.995323315216578 0.926538707411557 NA 0.0708783311309901 NA FALSE NA 0.148 -0.622 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA TCG C,T 3.295e-05 12:101362024 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 synonymous_variant 1.473728 0.16614 0.01906 0.732398 0.74613871636518 0 0.170231062921548 FALSE 3.25195e-05 ENSE00000753970_013 ENSE00000753970 013 12 101755699 101755868 + 41 99 30 G A 101755803 2642 105 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCAGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362024 101362025 101362025 exon -36 0.646464646464647 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCAGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 2598 807 0.998762482526364 0.998614458833583 0.998688470679973 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.0755186406247453 0.0687808859120874 0.995323315216578 0.926538707411557 NA 0.0721497632684164 NA FALSE NA 1 7.008 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA CGG G,A 8.236e-06 12:101362025 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 4.678344 0.99145 0.98437 0.732398 0.998959166555985 0 0.170231062921548 FALSE 8.13081e-06 ENSE00000753970_014 ENSE00000753970 014 12 101755699 101755868 + 41 99 30 T C 101755809 2643 111 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATCTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362030 101362031 101362031 exon -30 0.707070707070707 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATCTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant 14 13 1 1 1 692 771 0.999778483680944 0.999794819052022 0.999786651366483 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 0.00307329363619757 0.00628007593064672 0.0765346417793249 0.0699612461305266 0.995323315216578 0.926538707411557 0.00467668478342215 0.0732479439549257 0.0685712591715036 FALSE FALSE 1 1.944 rs12309241 upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs12309241 1 C:0.3644 C:0.6785 C:0.2089 NA C:0.5417 C:0.0229 C:0.2188 C:0.5708 C:0.0251 TTT T,C 0.157 12:101362031 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 synonymous_variant 0.624104 0.977 0.80022 0.732398 0.67253970367863 0 0.170231062921548 FALSE 0.151254 ENSE00000753970_015 ENSE00000753970 015 12 101755699 101755868 + 41 99 30 C T 101755816 2644 118 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTTTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362037 101362038 101362038 exon -23 0.777777777777778 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTTTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 911 1999 0.998512997354202 0.997580287242032 0.998046642298117 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.0752691554525832 0.0677467143205364 0.995323315216578 0.926538707411557 NA 0.0715079348865598 NA FALSE NA 0.97 5.204 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA TCT C,T 8.236e-06 12:101362038 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 5.251486 0.99048 0.9718 0.732398 0.99742790956124 0 0.170231062921548 FALSE 4.0665e-06 ENSE00000753970_016 ENSE00000753970 016 12 101755699 101755868 + 41 99 30 T C 101755818 2645 120 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTCGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362039 101362040 101362040 exon -21 0.797979797979798 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTCGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant 62 88 0.982498513454547 0.989386412667526 0.985942463061037 1203 1669 0.970920811479408 0.998822452501654 0.984871631990531 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 -0.0144281929092557 -0.00433351140182681 0.0476769695777896 0.068988879580159 0.995323315216578 0.926538707411557 -0.00938085215554124 0.0583329245789743 0.0677137767345155 FALSE FALSE 1 7.16 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs565059952 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TTG T,C 1.647e-05 12:101362040 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 5.734967 0.99299 0.98513 0.732398 0.997794468358905 0 0.170231062921548 FALSE 2.44014e-05 ENSE00000753970_017 ENSE00000753970 017 12 101755699 101755868 + 41 99 30 T C 101755828 2646 130 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATACAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362049 101362050 101362050 exon -11 0.898989898989899 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATACAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 622 849 0.995961301894144 0.999813674245476 0.99788748806981 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.0727174599925251 0.0699801013239809 0.995323315216578 0.926538707411557 NA 0.071348780658253 NA FALSE NA 1 3.528 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA ATA T,C 8.236e-06 12:101362050 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 missense_variant 0.207967 0.98463 0.93783 0.732398 0.598176476814953 0 0.170231062921548 FALSE 4.07007e-06 ENSE00000753970_018 ENSE00000753970 018 12 101755699 101755868 + 41 99 30 G A 101755843 2647 145 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAAACTTACAGAAACGAATTCTAATTTT 101361920 101362090 101362064 101362065 101362065 downstr_intron 5 1.17241379310345 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAAACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 2525 987 0.717906548681351 0.802853222561773 0.760379885621562 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA -0.205337293220268 -0.126980350359722 0.995323315216578 0.926538707411557 NA -0.166158821789995 NA FALSE NA 1 2.89 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA AGA G,A 8.236e-06 12:101362065 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 splice_region_variant 1.118755 0.97744 0.67072 0.088506 0.612540264365235 0.871979 0.170231062921548 FALSE 1.24165e-05 ENSE00000753970_019 ENSE00000753970 019 12 101755699 101755868 + 41 99 30 C T 101755849 2648 151 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTATAGAAACGAATTCTAATTTT 101361920 101362090 101362070 101362071 101362071 downstr_intron 11 1.37931034482759 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTATAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant NA NA NA NA NA 1435 1388 0.99743166755615 0.99988604076119 0.99865885415867 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA 0.0741878256545313 0.0700524678396945 0.995323315216578 0.926538707411557 NA 0.0721201467471129 NA FALSE NA 0.001 0.317 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs376550760 1 NA T:0 T:0.0003 ACA C,T 9.06e-05 12:101362071 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 intron_variant 0.11369 0.22903 0.01739 0.088506 0.792305395248476 0.187313 0.170231062921548 FALSE 0.000120893 ENSE00000753970_020 ENSE00000753970 020 12 101755699 101755868 + 41 99 30 C T 101755855 2649 157 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAATGAATTCTAATTTT 101361920 101362090 101362076 101362077 101362077 downstr_intron 17 1.58620689655172 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAATGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant 28 58 0.999033617071661 0.993610937529386 0.996322277300524 617 1110 0.948238158533184 0.99871675238719 0.973477455460187 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 0.00210691070785907 -0.000108986539967271 0.024994316631565 0.0688831794656952 0.995323315216578 0.926538707411557 0.000998962083945898 0.0469387480486301 0.0459397859646842 FALSE FALSE 0 -1.33 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 rs201020469 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACG C,T 2.471e-05 12:101362077 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 intron_variant -0.449084 0.17737 0.01243 0.088506 0.730394483103438 0.0448725 0.170231062921548 FALSE 2.09975e-05 ENSE00000753970_021 ENSE00000753970 021 12 101755699 101755868 + 41 99 30 G A 101755856 2650 158 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACAAATTCTAATTTT 101361920 101362090 101362077 101362078 101362078 downstr_intron 18 1.62068965517241 CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACAAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT mutant 65 14 0.834069042585321 0.993549176946281 0.913809109765801 1124 1647 0.998833807348801 0.999303771308591 0.999068789328696 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 -0.162857663778481 -0.000170747123072634 0.0755899654471821 0.0694701983870962 0.995323315216578 0.926538707411557 -0.081514205450777 0.0725300819171392 0.154044287367916 FALSE FALSE 0.001 0.348 . upstream_gene_variant MODIFIER snoU13 RFAM NA ENST00000458958 1 NA CGA G,A 1.647e-05 12:101362078 UTP20 HGNC Symbol protein_coding 106507 ENSG00000120800 ENSE00000753970 intron_variant 0.166393 0.25589 0.04846 0.088506 0.47507281448639 0.0448725 0.170231062921548 FALSE 1.25954e-05 ENSE00000753970_BRK ENSE00000753970 BRK 12 101755699 101755868 + 41 99 30 A,G; T,T NA NA NA CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTTTGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGCCAAGACTTACAGAAACGAATTCTAATTTT 101361920 101362090 NA NA NA NA NA NA CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTTTGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGCCAAGACTTACAGAAACGAATTCTAATTTT CATTGTTAATATTCATGTTGTTGCTGTGTGTCTCATGTTAGGTCCATGTGCTGACTTTCACCGTTCACATGCTGCTGCAAGGCCTCACCAATAAGCTGCAGGTCGGAGATTTGGACTCTTGTTTAGATATAATGATTGAGGTAAGACTTACAGAAACGAATTCTAATTTT control NA NA NA NA NA 1764 1067 0 0.0787385107759503 0.0393692553879752 0.996926706363802 0.993719924069353 0.923243841901619 0.929833572921495 NA NA -0.923243841901619 -0.851095062145545 0.995323315216578 0.926538707411557 NA -0.887169452023582 NA TRUE NA NA NA NA NA NA snoU13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTP20 NA NA NA ENSG00000120800 ENSE00000753970 NA NA NA NA NA NA NA 0.170231062921548 FALSE NA ENSE00000756033_000 ENSE00000756033 000 12 120583021 120583190 - 45 69 56 NA NA NA NA NA GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG 120145216 120145386 NA NA NA NA NA NA GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG natural NA NA NA NA NA 607 1729 0.988098414286992 0.974963295906425 0.981530855096709 NA NA 0.988098414286992 0.974963295906425 NA NA 0 0 NA 0.981530855096709 NA 0 NA FALSE NA NA NA NA NA NA GCN1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GCN1 NA NA NA ENSG00000089154 ENSE00000756033 NA NA NA NA NA NA NA NA NA NA ENSE00000756033_002 ENSE00000756033 002 12 120583021 120583190 - 45 69 56 C A 120583040 3443 151 GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATTGGCCAGGCCCCTCATCCAG 120145216 120145386 120145235 120145236 120145236 downstr_intron 26 1.59090909090909 GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATTGGCCAGGCCCCTCATCCAG GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG mutant 13 40 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.988098414286992 0.974963295906425 NA NA NA NA NA 0.981530855096709 NA NA NA NA NA 0 -1.109 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 39/57 rs375941753 1 NA A:0.0003 A:0 CCA C 8.271e-06 12:120145236 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756033 intron_variant -0.594887 0.1517 0.03778 0.256867 0.295697042036553 0.0690587 NA NA NA ENSE00000756033_013 ENSE00000756033 013 12 120583021 120583190 - 45 69 56 G A 120583106 3454 85 GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGATGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG 120145216 120145386 120145301 120145302 120145302 exon 29 0.420289855072464 GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGATGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG mutant NA NA NA NA NA 15 123 0.95 0.95168778233385 0.950843891166925 NA NA 0.988098414286992 0.974963295906425 NA NA -0.0380984142869921 -0.0232755135725755 NA 0.981530855096709 NA -0.0306869639297838 NA FALSE NA 1 6.061 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 39/58 1 benign(0.078) NA CGT G 1.653e-05 12:120145302 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756033 missense_variant 3.945496 0.96467 0.93332 0.706548 0.994793265965891 0 NA NA NA ENSE00000756033_021 ENSE00000756033 021 12 120583021 120583190 - 45 69 56 A G 120583140 3462 51 GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGCTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG 120145216 120145386 120145335 120145336 120145336 upstr_intron -6 -0.0892857142857143 GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGCTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG mutant NA NA NA NA NA 60 94 0.802682267496852 0.801536574195392 0.802109420846122 NA NA 0.988098414286992 0.974963295906425 NA NA -0.18541614679014 -0.173426721711034 NA 0.981530855096709 NA -0.179421434250587 NA FALSE NA 1 5.065 . splice_region_variant&intron_variant LOW GCN1L1 HGNC 4199 ENST00000300648 38/57 rs376901358 1 NA G:0 G:0.0001 AAC A 8.27e-06 12:120145336 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756033 splice_region_variant 0.39802 0.59166 0.67987 0.069865 0.560438615300305 0.107622 NA NA 4.75959e-06 ENSE00000756033_026 ENSE00000756033 026 12 120583021 120583190 - 45 69 56 G A 120583170 3467 21 GGCCTGGAGAAAGCAGGAGTTGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG 120145216 120145386 120145365 120145366 120145366 upstr_intron -36 -0.625 GGCCTGGAGAAAGCAGGAGTTGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG GGCCTGGAGAAAGCAGGAGTCGGGCCTCACCTGAGCCGCCTCCTGTGTTGTTGCAGGACTTGGCTCCGTACCTGCCCAGCGTGACGCCTGGCCTGAAAGCATCGCTTTTGGACCCTGTGCCTGAGGTGAGTCTGAGGTAGGCTGGGGGATGGGCCAGGCCCCTCATCCAG mutant 26 59 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.988098414286992 0.974963295906425 NA NA NA NA NA 0.981530855096709 NA NA NA NA NA 0 -2.678 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 38/57 1 NA CGA G 1.665e-05 12:120145366 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756033 intron_variant -0.067574 0.20436 0.05238 0.069865 0.470520469337344 0.123162 NA NA 1.35026e-05 ENSE00000756104_000 ENSE00000756104 000 12 120615442 120615611 - 45 69 56 NA NA NA NA NA AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 NA NA NA NA NA NA CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT natural 131 106 0.985315677044088 0.996652368141887 0.990984022592988 1133 1324 0.98908807842045 0.928321997363355 0.958705037891903 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 0 0 0 0 0.990984022592988 0.958705037891903 0 0 0 FALSE FALSE NA NA NA NA NA GCN1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GCN1 NA NA NA ENSG00000089154 ENSE00000756104 NA NA NA NA NA NA NA NA NA NA ENSE00000756104_001 ENSE00000756104 001 12 120615442 120615611 - 45 69 56 T G 120615453 3495 159 AATGGGATCAGGTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177649 120177650 120177650 downstr_intron 34 1.77272727272727 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACACCTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 228 312 0.979911857939652 1 0.989955928969826 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA -0.00917622048079769 0.0716780026366449 0.990984022592988 0.958705037891903 NA 0.0312508910779236 NA FALSE NA 0 -0.333 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 8/57 rs528528318 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GTT T,G 8.272e-05 12:120177650 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 non_coding_transcript_exon_variant 0.004948 0.22855 0.24744 0.256867 0.535926097167276 0.0764203 NA NA 7.31083e-05 ENSE00000756104_003 ENSE00000756104 003 12 120615442 120615611 - 45 69 56 G C 120615460 3497 152 AATGGGATCAGTTGTCCACGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177656 120177657 120177657 downstr_intron 27 1.61363636363636 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACGTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant 117 213 0.89912603656319 0.868415859804739 0.883770948183965 177 86 1 1 1 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 -0.0861896404808977 -0.128236508337148 0.01091192157955 0.0716780026366449 0.990984022592988 0.958705037891903 -0.107213074409023 0.0412949621080975 0.14850803651712 FALSE FALSE 0 0.416 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 8/57 1 NA AGG G,C 8.272e-06 12:120177657 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 non_coding_transcript_exon_variant -0.254826 0.26918 0.48222 0.256867 0.634258913993184 0.0961919 NA NA 4.06121e-06 ENSE00000756104_005 ENSE00000756104 005 12 120615442 120615611 - 45 69 56 G A 120615481 3499 131 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCACTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177677 120177678 120177678 downstr_intron 6 1.13636363636364 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGTGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 952 315 0.999838996697387 0.993737685385059 0.996788341041223 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.0107509182769373 0.0654156880217035 0.990984022592988 0.958705037891903 NA 0.0380833031493204 NA FALSE NA 0.996 1.366 . splice_region_variant&intron_variant LOW GCN1L1 HGNC 4199 ENST00000300648 8/57 1 NA CGC G,A 4.136e-05 12:120177678 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 splice_region_variant 0.925012 0.83715 0.1268 0.256867 0.629338124379076 0.296608 NA NA 5.2794e-05 ENSE00000756104_006 ENSE00000756104 006 12 120615442 120615611 - 45 69 56 C T 120615499 3500 113 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTTGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177695 120177696 120177696 exon -13 0.826086956521739 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCAAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 153 290 1 0.99527061371716 0.99763530685858 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.01091192157955 0.066948616353805 0.990984022592988 0.958705037891903 NA 0.0389302689666775 NA FALSE NA 1 1.152 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 8/58 rs548013528 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 TCG C,T 3.309e-05 12:120177696 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 synonymous_variant 2.593019 0.93024 0.89718 0.706548 0.757644895033933 0 NA NA 2.43667e-05 ENSE00000756104_009 ENSE00000756104 009 12 120615442 120615611 - 45 69 56 G A 120615514 3503 98 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTACTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177710 120177711 120177711 exon -28 0.608695652173913 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGTAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant 49 110 0.85 0.882094573552646 0.866047286776323 124 174 0.883574718805698 0.919546766648163 0.901560742726931 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 -0.135315677044088 -0.114557794589241 -0.105513359614752 -0.0087752307151916 0.990984022592988 0.958705037891903 -0.124936735816665 -0.0571442951649718 0.0677924406516929 FALSE FALSE 1 2.977 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 8/58 1 NA TGC G,A 3.31e-05 12:120177711 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 synonymous_variant 1.704421 0.94377 0.9225 0.706548 0.718999135775478 0 NA NA 3.65536e-05 ENSE00000756104_010 ENSE00000756104 010 12 120615442 120615611 - 45 69 56 C A 120615520 3504 92 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATAAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177716 120177717 120177717 exon -34 0.521739130434783 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTTATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 31 255 1 0.97287051192769 0.986435255963845 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.01091192157955 0.0445485145643352 0.990984022592988 0.958705037891903 NA 0.0277302180719426 NA FALSE NA 0.984 0.233 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 8/58 COSM348595 1 NA TCA C,A 8.274e-06 12:120177717 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 synonymous_variant 2.185577 0.91785 0.79137 0.706548 0.669460795057725 0 NA NA 4.06171e-06 ENSE00000756104_011 ENSE00000756104 011 12 120615442 120615611 - 45 69 56 A T 120615521 3505 91 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCTGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177717 120177718 120177718 exon -35 0.507246376811594 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCAGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 1011 188 0.996954508933936 1 0.998477254466968 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.00786643051348612 0.0716780026366449 0.990984022592988 0.958705037891903 NA 0.0397722165750655 NA FALSE NA 1 8.704 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 8/58 rs201075891 1 possibly_damaging(0.577) NA T:0 T:0.0004 CAG A,T 0.0001489 12:120177718 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 missense_variant 5.245865 0.957 0.98362 0.706548 0.99536698322623 0 NA NA 0.000154346 ENSE00000756104_013 ENSE00000756104 013 12 120615442 120615611 - 45 69 56 G A 120615535 3507 77 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATATAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177731 120177732 120177732 exon 21 0.304347826086957 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTATATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 26 251 1 1 1 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.01091192157955 0.0716780026366449 0.990984022592988 0.958705037891903 NA 0.0412949621080975 NA FALSE NA 0 -0.54 rs187134354 synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 8/58 rs187134354 1 A:0.0016 A:0.0045 A:0.0029 NA A:0 A:0 A:0 A:0.0054 A:0 TGT G,A 0.0004964 12:120177732 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 synonymous_variant 0.469875 0.27227 0.21009 0.706548 0.336900080445067 0 NA NA 0.000385981 ENSE00000756104_014 ENSE00000756104 014 12 120615442 120615611 - 45 69 56 G A 120615546 3508 66 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAATAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177742 120177743 120177743 exon 10 0.144927536231884 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTATTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 64 112 1 0.985610493839332 0.992805246919666 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.01091192157955 0.0572884964759768 0.990984022592988 0.958705037891903 NA 0.0341002090277634 NA FALSE NA 0.897 1.246 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 8/58 rs545682646 1 NA AGT G,A 0.0002482 12:120177743 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 synonymous_variant 1.05959 0.82415 0.84055 0.706548 0.531954304785869 0 NA NA 0.000300742 ENSE00000756104_019 ENSE00000756104 019 12 120615442 120615611 - 45 69 56 C T 120615571 3513 41 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGTTCTGGTTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177767 120177768 120177768 upstr_intron -16 -0.267857142857143 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAACTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 187 215 1 1 1 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.01091192157955 0.0716780026366449 0.990984022592988 0.958705037891903 NA 0.0412949621080975 NA FALSE NA 0 -1.044 rs112303104 intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 7/57 rs112303104 1 T:0.0034 T:0.0121 T:0 NA T:0 T:0.001 T:0 T:0.0073 T:0.0001 GCT C,T 0.0007942 12:120177768 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 non_coding_transcript_exon_variant -0.141379 0.24501 0.07968 0.062308 0.56924315355183 0.166802 NA NA 0.000642464 ENSE00000756104_020 ENSE00000756104 020 12 120615442 120615611 - 45 69 56 T C 120615577 3514 35 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGCTAGATCCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177773 120177774 120177774 upstr_intron -22 -0.375 CCAGTGATGAGATACTTGAGAATGTCAGGATCTAGCCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant 159 197 0.0407449564264657 0 0.0203724782132329 NA NA NA NA NA 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 -0.944570720617622 -0.996652368141887 NA NA 0.990984022592988 0.958705037891903 -0.970611544379755 NA NA NA TRUE 0.077 2.677 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 7/57 1 NA GTT T,C 8.273e-06 12:120177774 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 non_coding_transcript_exon_variant 0.243284 0.33456 0.36296 0.062308 0.726792129573775 0.166802 NA NA 4.06699e-06 ENSE00000756104_021 ENSE00000756104 021 12 120615442 120615611 - 45 69 56 C T 120615583 3515 29 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATTCTGACATTCTCAAGTATCTCATCACTGG 120177638 120177808 120177779 120177780 120177780 upstr_intron -28 -0.482142857142857 CCAGTGATGAGATACTTGAGAATGTCAGAATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 35 229 1 1 1 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.01091192157955 0.0716780026366449 0.990984022592988 0.958705037891903 NA 0.0412949621080975 NA FALSE NA 0 -0.159 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 7/57 1 NA TCC C,T 8.273e-06 12:120177780 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 non_coding_transcript_exon_variant 0.324517 0.28964 0.11173 0.062308 0.651615456828315 0.105949 NA NA 4.06792e-06 ENSE00000756104_023 ENSE00000756104 023 12 120615442 120615611 - 45 69 56 T C 120615598 3517 14 AATGGGATCAGTTGTCCAGGTGAGTAACGTCCACCTCTCGCTCACCAACAGGTACTTCGGAGGCTTGACTTTGCTCATCAGGATGTTCTTCATGTAAAAGTCCAGTAGGGCGCTCTAGAGAACACAAAGCTCTGGTTAGATCCTGACATTCTCAAGCATCTCATCACTGG 120177638 120177808 120177794 120177795 120177795 upstr_intron -43 -0.75 CCAGTGATGAGATGCTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT CCAGTGATGAGATACTTGAGAATGTCAGGATCTAACCAGAGCTTTGTGTTCTCTAGAGCGCCCTACTGGACTTTTACATGAAGAACATCCTGATGAGCAAAGTCAAGCCTCCGAAGTACCTGTTGGTGAGCGAGAGGTGGACGTTACTCACCTGGACAACTGATCCCATT mutant NA NA NA NA NA 110 24 1 1 1 0.985315677044088 0.996652368141887 0.98908807842045 0.928321997363355 NA NA 0.01091192157955 0.0716780026366449 0.990984022592988 0.958705037891903 NA 0.0412949621080975 NA FALSE NA 0 -0.015 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 7/57 rs570679836 1 C:0.0006 C:0 C:0 NA C:0 C:0 C:0.0031 GTA T,C 0.000273 12:120177795 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756104 intron_variant 0.033173 0.18038 0.14632 0.069865 0.474296439189351 0.105949 NA NA 0.000219929 ENSE00000756107_000 ENSE00000756107 000 12 120616625 120616794 - 30 99 41 NA NA NA NA NA TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 NA NA NA NA NA NA TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT natural 456 705 0.835439571411215 0.85 0.842719785705608 711 1340 0.792157543573691 0.79367720473372 0.792917374153706 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0 0 0 0 0.842719785705608 0.792917374153706 0 0 0 FALSE FALSE NA NA NA NA NA GCN1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GCN1 NA NA NA ENSG00000089154 ENSE00000756107 NA NA NA NA NA NA NA NA NA NA ENSE00000756107_002 ENSE00000756107 002 12 120616625 120616794 - 30 99 41 C T 120616643 3519 152 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTACAGGGGCTGGTGGGCATT 120178821 120178991 120178839 120178840 120178840 downstr_intron 12 1.41379310344828 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTACAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 250 350 0.847804380144898 0.85 0.848902190072449 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0123648087336831 0 NA NA 0.842719785705608 0.792917374153706 0.00618240436684153 NA NA NA FALSE 0 -0.562 . intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 6/57 1 NA GCA C,T 8.258e-06 12:120178840 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 intron_variant 0.699227 0.24613 0.14609 0.283894 0.673229980100089 0.0673465 NA NA 4.06408e-06 ENSE00000756107_003 ENSE00000756107 003 12 120616625 120616794 - 30 99 41 T C 120616649 3520 146 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACGGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178845 120178846 120178846 downstr_intron 6 1.20689655172414 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACGGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 11 39 0.85 0.85 0.85 189 602 0.986501692660268 0.982878775496329 0.984690234078298 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 0.194344149086577 0.189201570762608 0.842719785705608 0.792917374153706 0.0072802142943923 0.191772859924593 0.184492645630201 FALSE FALSE 0 -1.55 . splice_region_variant&intron_variant LOW GCN1L1 HGNC 4199 ENST00000300648 6/57 1 NA CTG T,C 5.78e-05 12:120178846 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 splice_region_variant 0.798106 0.24118 0.09778 0.283894 0.598731492005315 0.214861 NA NA 4.06322e-05 ENSE00000756107_004 ENSE00000756107 004 12 120616625 120616794 - 30 99 41 T G 120616651 3521 144 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGCCAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178847 120178848 120178848 downstr_intron 4 1.13793103448276 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGCCAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 27 39 0 0 0 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 -0.835439571411215 -0.85 NA NA 0.842719785705608 0.792917374153706 -0.842719785705608 NA NA NA TRUE 0.925 0.772 . splice_region_variant&intron_variant LOW GCN1L1 HGNC 4199 ENST00000300648 6/57 rs553135919 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GTC T,G 1.651e-05 12:120178848 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 splice_region_variant 2.004656 0.95544 0.65805 0.283894 0.973525676349653 0.963327 NA NA 8.12612e-06 ENSE00000756107_005 ENSE00000756107 005 12 120616625 120616794 - 30 99 41 C T 120616664 3522 131 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTATGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178860 120178861 120178861 exon -10 0.909090909090909 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTATGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 23 20 0.85 0.85 0.85 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 NA NA 0.842719785705608 0.792917374153706 0.0072802142943923 NA NA NA FALSE 0.078 -0.659 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 6/58 1 NA ACA C,T 8.256e-06 12:120178861 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 synonymous_variant 2.133746 0.8829 0.51648 0.67177 0.741206753302908 0 NA NA 4.06336e-06 ENSE00000756107_007 ENSE00000756107 007 12 120616625 120616794 - 30 99 41 G A 120616671 3524 124 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCATGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178867 120178868 120178868 exon -17 0.838383838383838 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCATGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 10 20 0.85 0.85 0.85 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 NA NA 0.842719785705608 0.792917374153706 0.0072802142943923 NA NA NA FALSE 1 2.766 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 rs368315746 1 benign(0.266) NA C:0.0002 C:0 CGT G,A 4.128e-05 12:120178868 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 3.143366 0.94031 0.92803 0.67177 0.982099689970948 0 NA NA 3.65705e-05 ENSE00000756107_008 ENSE00000756107 008 12 120616625 120616794 - 30 99 41 T A 120616672 3525 123 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCTCGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178868 120178869 120178869 exon -18 0.828282828282828 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCTCGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant NA NA NA NA NA 166 45 0.8 0.8 0.8 0.835439571411215 0.85 0.792157543573691 0.79367720473372 NA NA 0.00784245642630943 0.00632279526627966 0.842719785705608 0.792917374153706 NA 0.00708262584629454 NA FALSE NA 1 4.467 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 benign(0.001) NA GTG T,A 8.256e-06 12:120178869 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 2.406074 0.97318 0.97536 0.67177 0.905104298156971 0 NA NA 4.06329e-06 ENSE00000756107_009 ENSE00000756107 009 12 120616625 120616794 - 30 99 41 A G 120616674 3526 121 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACCCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178870 120178871 120178871 exon -20 0.808080808080808 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACCCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant NA NA NA NA NA 433 125 0.692053484678084 0.587752529460043 0.639903007069064 0.835439571411215 0.85 0.792157543573691 0.79367720473372 NA NA -0.100104058895606 -0.205924675273678 0.842719785705608 0.792917374153706 NA -0.153014367084642 NA FALSE NA 1 8.633 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 possibly_damaging(0.87) NA GAG A,G 8.255e-06 12:120178871 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 6.765777 0.97389 0.99267 0.67177 0.998905121839266 0 NA NA 4.06303e-06 ENSE00000756107_010 ENSE00000756107 010 12 120616625 120616794 - 30 99 41 C T 120616684 3527 111 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTATGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178880 120178881 120178881 exon -30 0.707070707070707 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTATGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 41 28 0.85 0.85 0.85 506 254 0.795794874265026 0.8 0.797897437132513 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 0.00363733069133509 0.00632279526627955 0.842719785705608 0.792917374153706 0.0072802142943923 0.00498006297880732 0.00230015131558498 FALSE FALSE 0.911 2.069 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 benign(0.001) NA ACA C,T 2.477e-05 12:120178881 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 2.945624 0.93931 0.92878 0.67177 0.984875219703847 0 NA NA 1.6255e-05 ENSE00000756107_011 ENSE00000756107 011 12 120616625 120616794 - 30 99 41 C T 120616696 3528 99 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCATGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178892 120178893 120178893 exon -42 0.585858585858586 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCATGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant NA NA NA NA NA 42 184 0 0.00451089943632897 0.00225544971816449 0.835439571411215 0.85 0.792157543573691 0.79367720473372 NA NA -0.792157543573691 -0.789166305297392 0.842719785705608 0.792917374153706 NA -0.790661924435541 NA TRUE NA 0.855 2.284 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 benign(0.173) NA ACG C,T 2.476e-05 12:120178893 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 3.554675 0.95663 0.93754 0.67177 0.996631495171816 0 NA NA 3.65869e-05 ENSE00000756107_012 ENSE00000756107 012 12 120616625 120616794 - 30 99 41 G A 120616697 3529 98 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCTGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178893 120178894 120178894 exon -43 0.575757575757576 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCTGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant NA NA NA NA NA 190 30 0.0659411516794452 0.0108742418042033 0.0384076967418242 0.835439571411215 0.85 0.792157543573691 0.79367720473372 NA NA -0.726216391894245 -0.782802962929517 0.842719785705608 0.792917374153706 NA -0.754509677411881 NA TRUE NA 0.002 -1.46 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 6/58 rs200979023 1 A:0.0018 A:0.0008 A:0.0043 NA A:0 A:0.002 A:0.0031 A:0.0014 A:0.0005 CGG G,A 0.00118 12:120178894 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 synonymous_variant 2.285023 0.85719 0.26413 0.67177 0.722985871891301 0 NA NA 0.00104074 ENSE00000756107_013 ENSE00000756107 013 12 120616625 120616794 - 30 99 41 G A 120616700 3530 95 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCATGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178896 120178897 120178897 exon -46 0.545454545454545 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCATGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 90 111 0.85 0.85 0.85 21 65 0.807646074493512 0.8 0.803823037246756 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 0.0154885309198214 0.00632279526627966 0.842719785705608 0.792917374153706 0.0072802142943923 0.0109056630930505 0.00362544879865823 FALSE FALSE 0.033 -1.217 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 6/58 1 NA CGT G,A 4.127e-05 12:120178897 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 synonymous_variant 0.813871 0.34638 0.11022 0.67177 0.569396268486742 0 NA NA 4.47314e-05 ENSE00000756107_014 ENSE00000756107 014 12 120616625 120616794 - 30 99 41 G T 120616702 3531 93 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGAACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178898 120178899 120178899 exon -48 0.525252525252525 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGAACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 15 45 0.85 0.85 0.85 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 NA NA 0.842719785705608 0.792917374153706 0.0072802142943923 NA NA NA FALSE 1 6.992 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 benign(0) NA TGC G,T 1.651e-05 12:120178899 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 2.389193 0.96197 0.96703 0.67177 0.975631079720293 0 NA NA 8.13398e-06 ENSE00000756107_015 ENSE00000756107 015 12 120616625 120616794 - 30 99 41 T C 120616707 3532 88 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCGCAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178903 120178904 120178904 exon 47 0.474747474747475 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCGCAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 182 160 0.85 0.85 0.85 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 NA NA 0.842719785705608 0.792917374153706 0.0072802142943923 NA NA NA FALSE 1 2.755 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 rs375349958 1 benign(0) NA C:0 C:0.0001 GTG T,C 8.252e-06 12:120178904 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 0.208288 0.94235 0.93393 0.67177 0.669563240657368 0 NA NA 4.06712e-06 ENSE00000756107_017 ENSE00000756107 017 12 120616625 120616794 - 30 99 41 C G 120616718 3534 77 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTCGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178914 120178915 120178915 exon 36 0.363636363636364 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTCGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 12 12 0.85 0.85 0.85 78 136 0.8 0.930129173867506 0.865064586933753 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 0.00784245642630943 0.136451969133786 0.842719785705608 0.792917374153706 0.0072802142943923 0.0721472127800475 0.0648669984856552 FALSE FALSE 0.996 0.416 . synonymous_variant LOW GCN1L1 HGNC 4199 ENST00000300648 6/58 rs201362488 1 NA G:0 G:0.0001 CCA C,G 0.0002558 12:120178915 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 synonymous_variant 1.271561 0.93265 0.90248 0.67177 0.72083993258399 0 NA NA 0.000305474 ENSE00000756107_019 ENSE00000756107 019 12 120616625 120616794 - 30 99 41 G A 120616735 3536 60 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGTTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178931 120178932 120178932 exon 19 0.191919191919192 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGTTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 44 31 0.85 0.85 0.85 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 1.11022302462516e-16 NA NA 0.842719785705608 0.792917374153706 0.00728021429439235 NA NA NA FALSE 1 5.197 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 probably_damaging(0.997) NA AGC G,A 8.254e-06 12:120178932 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 5.863257 0.9618 0.961 0.67177 0.998777388597619 0 NA NA 8.16867e-06 ENSE00000756107_020 ENSE00000756107 020 12 120616625 120616794 - 30 99 41 A C 120616737 3537 58 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCGGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178933 120178934 120178934 exon 17 0.171717171717172 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCGGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 19 70 0.85 0.85 0.85 280 393 0.8 0.8 0.8 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0145604285887846 0 0.00784245642630943 0.00632279526627955 0.842719785705608 0.792917374153706 0.0072802142943923 0.00708262584629449 0.000197588448097807 FALSE FALSE 1 6.841 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 possibly_damaging(0.641) NA CAG A,C 8.253e-06 12:120178934 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 4.397738 0.98089 0.98993 0.67177 0.994760142791549 0 NA NA 4.0849e-06 ENSE00000756107_021 ENSE00000756107 021 12 120616625 120616794 - 30 99 41 C G 120616740 3538 55 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTCCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178936 120178937 120178937 exon 14 0.141414141414141 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTCCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant NA NA NA NA NA 156 103 0.822488756252107 0.8 0.811244378126054 0.835439571411215 0.85 0.792157543573691 0.79367720473372 NA NA 0.0303312126784165 0.00632279526627955 0.842719785705608 0.792917374153706 NA 0.018327003972348 NA FALSE NA 1 5.435 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 benign(0.001) NA GCA C,G 8.255e-06 12:120178937 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 2.059209 0.96912 0.97442 0.67177 0.601437658479312 0 NA NA NA ENSE00000756107_023 ENSE00000756107 023 12 120616625 120616794 - 30 99 41 A G 120616746 3540 49 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGCGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178942 120178943 120178943 exon 8 0.0808080808080808 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGCGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 39 41 0.744920323845452 0.85 0.797460161922726 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 -0.090519247565763 0 NA NA 0.842719785705608 0.792917374153706 -0.0452596237828815 NA NA NA FALSE 1 4.592 . missense_variant MODERATE GCN1L1 HGNC 4199 ENST00000300648 6/58 1 benign(0.001) NA CAC A,G 8.255e-06 12:120178943 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 missense_variant 1.520514 0.96801 0.97511 0.67177 0.96243743788941 0 NA NA 4.09698e-06 ENSE00000756107_024 ENSE00000756107 024 12 120616625 120616794 - 30 99 41 G C 120616760 3541 35 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCGTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178956 120178957 120178957 upstr_intron -7 -0.146341463414634 TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCGTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 28 52 0 0 0 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 -0.835439571411215 -0.85 NA NA 0.842719785705608 0.792917374153706 -0.842719785705608 NA NA NA TRUE 0.208 1.379 . splice_region_variant&intron_variant LOW GCN1L1 HGNC 4199 ENST00000300648 5/57 1 NA AGG G,C 8.255e-06 12:120178957 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 splice_region_variant 0.850132 0.45288 0.63164 0.069865 0.69924137794196 0.366024 NA NA 4.13449e-06 ENSE00000756107_027 ENSE00000756107 027 12 120616625 120616794 - 30 99 41 C G 120616780 3544 15 TCATGTCCCACCTTCACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT 120178821 120178991 120178976 120178977 120178977 upstr_intron -27 -0.634146341463415 TCATGTCCCACCTTCACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT TCATGTCCCACCTTGACCTGAGTCTTCCCTGGTCCTGGCAGGTGGAAGTGCAGTGCCTGCTCTTGCTGGAGGTGCTGGGTGGCTCCCACAAGCACGCCGTGGATGGTGCTGTGAAGAAACTCACGAAGCTGTGGAAAGAGGTGACAGGACTGCAGGGGCTGGTGGGCATT mutant 27 13 0.912371674481346 0.85 0.881185837240673 NA NA NA NA NA 0.835439571411215 0.85 0.792157543573691 0.79367720473372 0.0769321030701303 -1.11022302462516e-16 NA NA 0.842719785705608 0.792917374153706 0.0384660515350651 NA NA NA FALSE 0 0.2 rs139597413 intron_variant MODIFIER GCN1L1 HGNC 4199 ENST00000300648 5/57 rs139597413 1 G:0.0004 G:0 G:0 NA G:0 G:0.002 G:0 G:0.0002 G:0.0001 TCA C,G 0.0002478 12:120178977 GCN1 HGNC Symbol protein_coding 67507 ENSG00000089154 ENSE00000756107 intron_variant 0.728311 0.79631 0.42286 0.069865 0.673045146073855 0.948215 NA NA 0.000223961 ENSE00000757610_000 ENSE00000757610 000 12 133367761 133367930 - 41 78 51 NA NA NA NA NA TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 NA NA NA NA NA NA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA natural NA NA NA NA NA 4627 2428 0.964893382552136 0.837149755153899 0.901021568853017 NA NA 0.964893382552136 0.837149755153899 NA NA 0 0 NA 0.901021568853017 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GOLGA3 NA NA NA ENSG00000090615 ENSE00003803892 NA NA NA NA NA NA NA 0.991564255599712 TRUE NA ENSE00000757610_003 ENSE00000757610 003 12 133367761 133367930 - 41 78 51 C G 133367788 4008 143 TATGCTTGTTTCAAGTGAAGAAATCAAGAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791201 132791202 132791202 downstr_intron 14 1.35 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTCTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 135 1230 1 0.989603502100856 0.994801751050428 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0351066174478639 0.152453746946957 NA 0.901021568853017 NA 0.0937801821974107 NA FALSE NA 0 -0.206 NA NA NA GOLGA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:132791202 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 intron_variant -0.098557 0.14669 0.06363 0.295142 0.632168364585288 0.071185 0.991564255599712 TRUE 8.17214e-06 ENSE00000757610_004 ENSE00000757610 004 12 133367761 133367930 - 41 78 51 T G 133367795 4009 136 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGAGTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791208 132791209 132791209 downstr_intron 7 1.175 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAACTCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 42 135 1 0.971104055578005 0.985552027789002 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0351066174478639 0.133954300424106 NA 0.901021568853017 NA 0.0845304589359852 NA FALSE NA 0.008 0.487 . splice_region_variant&intron_variant LOW GOLGA3 HGNC 4426 ENST00000204726 12/23 1 NA ATT T,G 2.471e-05 12:132791209 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 splice_region_variant -0.027686 0.11805 0.01844 0.295142 0.66604455149247 0.153365 0.991564255599712 TRUE 1.63032e-05 ENSE00000757610_006 ENSE00000757610 006 12 133367761 133367930 - 41 78 51 G A 133367813 4011 118 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAAAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791226 132791227 132791227 exon -12 0.858974358974359 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTTTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 92 33 0.988744866879217 0.887503732364079 0.938124299621648 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0238514843270807 0.0503539772101809 NA 0.901021568853017 NA 0.0371027307686308 NA FALSE NA 1 1.86 . missense_variant MODERATE GOLGA3 HGNC 4426 ENST00000204726 12/24 rs201465563 1 tolerated(0.12) possibly_damaging(0.764) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGA G,A 8.236e-06 12:132791227 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 missense_variant 2.009061 0.96476 0.95067 0.67177 0.994550127155804 0 0.991564255599712 TRUE 1.22159e-05 ENSE00000757610_008 ENSE00000757610 008 12 133367761 133367930 - 41 78 51 T C 133367831 4013 100 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTCTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791244 132791245 132791245 exon -30 0.628205128205128 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAGAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 418 373 0.999633197936817 0.999575763145816 0.999604480541316 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0347398153846813 0.162426007991917 NA 0.901021568853017 NA 0.0985829116882991 NA FALSE NA 1 7.589 . missense_variant MODERATE GOLGA3 HGNC 4426 ENST00000204726 12/24 1 deleterious(0.04) possibly_damaging(0.702) NA TTT T,C 8.236e-06 12:132791245 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 missense_variant 3.545279 0.99061 0.99385 0.67177 0.998398513451469 0 0.991564255599712 TRUE 4.07272e-06 ENSE00000757610_009 ENSE00000757610 009 12 133367761 133367930 - 41 78 51 C T 133367852 4014 79 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGTAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791265 132791266 132791266 exon 28 0.358974358974359 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTACTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 175 67 1 1 1 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0351066174478639 0.162850244846101 NA 0.901021568853017 NA 0.0989784311469827 NA FALSE NA 0 -0.643 . missense_variant MODERATE GOLGA3 HGNC 4426 ENST00000204726 12/24 rs537933670 1 tolerated(0.83) benign(0.002) T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 GCA C,T 0.0004118 12:132791266 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 missense_variant -1.541463 0.07859 0.00646 0.67177 0.520363203608099 0 0.991564255599712 TRUE 0.000367296 ENSE00000757610_010 ENSE00000757610 010 12 133367761 133367930 - 41 78 51 A T 133367853 4015 78 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCTGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791266 132791267 132791267 exon 27 0.346153846153846 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCAGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 2168 529 0.998855467958758 0.998310180171303 0.998582824065031 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0339620854066216 0.161160425017405 NA 0.901021568853017 NA 0.0975612552120131 NA FALSE NA 0.001 1.182 . synonymous_variant LOW GOLGA3 HGNC 4426 ENST00000204726 12/24 1 NA CAG G,T 8.236e-06 12:132791267 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 synonymous_variant -0.604202 0.22058 0.18499 0.67177 0.734135182699106 0 0.991564255599712 TRUE 4.08033e-06 ENSE00000757610_011 ENSE00000757610 011 12 133367761 133367930 - 41 78 51 G C 133367870 4016 61 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCACGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791283 132791284 132791284 exon 10 0.128205128205128 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACGTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 1358 239 0.999878719561903 0.99933769807595 0.999608208818926 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0349853370097665 0.162187942922052 NA 0.901021568853017 NA 0.0985866399659092 NA FALSE NA 0.995 0.235 . missense_variant MODERATE GOLGA3 HGNC 4426 ENST00000204726 12/24 1 tolerated(0.12) possibly_damaging(0.72) NA AGG G,C 8.236e-06 12:132791284 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 missense_variant 3.258038 0.97131 0.97241 0.67177 0.99495335486212 0 0.991564255599712 TRUE 4.09453e-06 ENSE00000757610_012 ENSE00000757610 012 12 133367761 133367930 - 41 78 51 G A 133367873 4017 58 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTATTCCACCTGTGGGAGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791286 132791287 132791287 exon 7 0.0897435897435897 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAATACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 699 201 0.996352335305336 1 0.998176167652668 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0314589527531998 0.162850244846101 NA 0.901021568853017 NA 0.0971545987996506 NA FALSE NA 1 1.926 NA NA NA GOLGA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:132791287 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 missense_variant 3.875865 0.97869 0.95622 0.67177 0.990114878346721 0 0.991564255599712 TRUE 6.14789e-05 ENSE00000757610_017 ENSE00000757610 017 12 133367761 133367930 - 41 78 51 A C 133367887 4022 44 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGCGACATGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791300 132791301 132791301 upstr_intron -8 -0.137254901960784 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCGCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 97 70 1 1 1 NA NA 0.964893382552136 0.837149755153899 NA NA 0.0351066174478639 0.162850244846101 NA 0.901021568853017 NA 0.0989784311469827 NA FALSE NA 0.048 1.274 . splice_region_variant&intron_variant LOW GOLGA3 HGNC 4426 ENST00000204726 11/23 1 NA GAG A,C 1.647e-05 12:132791301 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 splice_region_variant -0.558046 0.2159 0.39907 0.069865 0.45128198115604 0.23609 0.991564255599712 TRUE 8.25362e-06 ENSE00000757610_019 ENSE00000757610 019 12 133367761 133367930 - 41 78 51 T C 133367892 4024 39 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACACGTGCACAGACATTACACTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791305 132791306 132791306 upstr_intron -13 -0.235294117647059 ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACGTGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 10 157 0.8 1 0.9 NA NA 0.964893382552136 0.837149755153899 NA NA -0.164893382552136 0.162850244846101 NA 0.901021568853017 NA -0.0010215688530173 NA FALSE NA 0 -2.52 . intron_variant MODIFIER GOLGA3 HGNC 4426 ENST00000204726 11/23 rs374338266 1 NA C:0.0005 C:0 ATG T,C 2.471e-05 12:132791306 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 intron_variant -0.25097 0.11885 0.00883 0.069865 0.473366630039305 0.236868 0.991564255599712 TRUE 8.25818e-06 ENSE00000757610_021 ENSE00000757610 021 12 133367761 133367930 - 41 78 51 A G 133367908 4026 23 TATGCTTGTTTCAAGTGAAGAAATCAACAACAGATTTTTACCTTTTGTTGGAGAAACTGTTCCTTTATTTTTTGCATTTGCTTTTTCAGAGCAGCAGTCTCCTGCTGCAGGTGTTCCACCTGTGGGAGACATGTGCACAGACATTACGCTGACGGCTCCAGGAGGGGAAT 132791174 132791344 132791321 132791322 132791322 upstr_intron -29 -0.549019607843137 ATTCCCCTCCTGGAGCCGTCAGCGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA ATTCCCCTCCTGGAGCCGTCAGTGTAATGTCTGTGCACATGTCTCCCACAGGTGGAACACCTGCAGCAGGAGACTGCTGCTCTGAAAAAGCAAATGCAAAAAATAAAGGAACAGTTTCTCCAACAAAAGGTAAAAATCTGTTGTTGATTTCTTCACTTGAAACAAGCATA mutant NA NA NA NA NA 22 208 0.823089689077118 1 0.911544844538559 NA NA 0.964893382552136 0.837149755153899 NA NA -0.141803693475018 0.162850244846101 NA 0.901021568853017 NA 0.0105232756855416 NA FALSE NA 0.001 0.864 . intron_variant MODIFIER GOLGA3 HGNC 4426 ENST00000204726 11/23 1 NA CAC A,G 8.237e-06 12:132791322 GOLGA3 HGNC Symbol protein_coding 59949 ENSG00000090615 ENSE00003803892 intron_variant 0.150797 0.17391 0.12831 0.069865 0.724124458079335 0.0497734 0.991564255599712 TRUE NA ENSE00000761652_000 ENSE00000761652 000 6 108214992 108215161 - 50 60 60 NA NA NA NA NA TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 NA NA NA NA NA NA TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT natural 24 14 0.963704784101924 0.952820228263022 0.958262506182473 7759 7367 0.940362268541344 0.769114773401971 0.854738520971657 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 0 0 0 0 0.958262506182473 0.854738520971657 0 0 0 FALSE FALSE NA NA NA NA NA SEC63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC63 NA NA NA ENSG00000025796 ENSE00000761652 NA NA NA NA NA NA NA 1.24261908060209e-05 FALSE NA ENSE00000761652_001 ENSE00000761652 001 6 108214992 108215161 - 50 60 60 A G 108215006 2065 156 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGCGAAAGAAATATTTT 107893787 107893957 107893801 107893802 107893802 downstr_intron 36 1.73469387755102 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGCGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 489 924 0.98848472979568 0.981788648563784 0.985136689179732 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0481224612543369 0.212673875161813 0.958262506182473 0.854738520971657 NA 0.130398168208075 NA FALSE NA 0 0.609 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 15/20 1 NA CAC A,G 8.237e-06 6:107893802 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 non_coding_transcript_exon_variant 0.158079 0.21123 0.05736 0.106106 0.33112032816539 0.0733443 1.24261908060209e-05 FALSE 4.06861e-06 ENSE00000761652_002 ENSE00000761652 002 6 108214992 108215161 - 50 60 60 T C 108215008 2066 154 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTGGTGAAAGAAATATTTT 107893787 107893957 107893803 107893804 107893804 downstr_intron 34 1.69387755102041 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTGGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 438 331 0.995774645473485 0.980429572131024 0.988102108802254 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0554123769321411 0.211314798729053 0.958262506182473 0.854738520971657 NA 0.133363587830597 NA FALSE NA 0 -0.793 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 15/20 1 NA CTA T,C 8.237e-06 6:107893804 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 non_coding_transcript_exon_variant 0.064297 0.11765 0.00732 0.156188 0.421712610743402 0.0733443 1.24261908060209e-05 FALSE 4.06798e-06 ENSE00000761652_003 ENSE00000761652 003 6 108214992 108215161 - 50 60 60 T C 108215017 2067 145 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTGTTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893812 107893813 107893813 downstr_intron 25 1.51020408163265 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTGTTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 229 2150 0.991041758655228 0.994808070621969 0.992924914638599 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0506794901138848 0.225693297219998 0.958262506182473 0.854738520971657 NA 0.138186393666941 NA FALSE NA 0 -2.701 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 15/20 rs372057833 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 C:0 C:0.0001 ATA T,C 0.0001977 6:107893813 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 non_coding_transcript_exon_variant -0.456722 0.07016 0.02336 0.156188 0.454762019651457 0.0726064 1.24261908060209e-05 FALSE 0.000207342 ENSE00000761652_004 ENSE00000761652 004 6 108214992 108215161 - 50 60 60 G A 108215019 2068 143 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACTTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893814 107893815 107893815 downstr_intron 23 1.46938775510204 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACTTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 655 300 0.985676284789294 0.990595975935913 0.988136130362603 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0453140162479507 0.221481202533941 0.958262506182473 0.854738520971657 NA 0.133397609390946 NA FALSE NA 0 -0.759 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 15/20 rs200663697 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGG G,A 8.236e-06 6:107893815 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 non_coding_transcript_exon_variant 0.282902 0.18759 0.11074 0.156188 0.684340017066171 0.0726064 1.24261908060209e-05 FALSE 4.0658e-06 ENSE00000761652_005 ENSE00000761652 005 6 108214992 108215161 - 50 60 60 C T 108215030 2069 132 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGAGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893825 107893826 107893826 downstr_intron 12 1.24489795918367 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGAGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 1639 781 0.789243721282272 0.985195937144309 0.88721982921329 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA -0.151118547259072 0.216081163742338 0.958262506182473 0.854738520971657 NA 0.032481308241633 NA FALSE NA 0 0.3 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 15/20 rs534193520 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCC C,T 8.236e-06 6:107893826 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 non_coding_transcript_exon_variant 0.864619 0.13722 0.0029 0.156188 0.699664662902742 0.0726064 1.24261908060209e-05 FALSE NA ENSE00000761652_006 ENSE00000761652 006 6 108214992 108215161 - 50 60 60 C A 108215053 2070 109 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCATCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893848 107893849 107893849 exon -12 0.816666666666667 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCATCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 238 1448 0.995461806296214 0.965324095843007 0.980392951069611 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0550995377548704 0.196209322441036 0.958262506182473 0.854738520971657 NA 0.125654430097953 NA FALSE NA 0.042 0.147 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:107893849 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 missense_variant 2.18557 0.97441 0.45694 0.6512 0.806019946416515 0 1.24261908060209e-05 FALSE 4.06398e-06 ENSE00000761652_007 ENSE00000761652 007 6 108214992 108215161 - 50 60 60 C T 108215053 2071 109 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAACAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893848 107893849 107893849 exon -12 0.816666666666667 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAACAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 391 357 0.999789306757091 0.950788587825363 0.975288947291227 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0594270382157474 0.181673814423392 0.958262506182473 0.854738520971657 NA 0.12055042631957 NA FALSE NA 0.042 0.147 NA NA NA SEC63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC63 NA NA NA ENSG00000025796 ENSE00000761652 missense_variant 2.787618 0.97058 0.24552 0.6512 0.948832299791444 0 1.24261908060209e-05 FALSE 5.28318e-05 ENSE00000761652_008 ENSE00000761652 008 6 108214992 108215161 - 50 60 60 C T 108215073 2072 89 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTATGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893868 107893869 107893869 exon 29 0.483333333333333 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTATGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 258 1101 0.935957949145126 0.962563217291547 0.949260583218336 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA -0.00440431939621733 0.193448443889575 0.958262506182473 0.854738520971657 NA 0.094522062246679 NA FALSE NA 1 4.139 rs61761861 missense_variant MODERATE SEC63 HGNC 21082 ENST00000369002 15/21 rs61761861 1 deleterious(0.04) benign(0.079) NA ACA C,T 3.295e-05 6:107893869 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 missense_variant 4.793624 0.99109 0.97539 0.562547 0.949901208383059 0 1.24261908060209e-05 FALSE 2.43895e-05 ENSE00000761652_010 ENSE00000761652 010 6 108214992 108215161 - 50 60 60 T C 108215099 2074 63 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAGGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893894 107893895 107893895 exon 3 0.05 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAGGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 84 1249 0.993451734825559 0.945499624169039 0.969475679497299 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0530894662842151 0.176384850767068 0.958262506182473 0.854738520971657 NA 0.114737158525641 NA FALSE NA 1 1.966 . splice_region_variant&synonymous_variant LOW SEC63 HGNC 21082 ENST00000369002 15/21 rs554456645 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTT T,C 1.647e-05 6:107893895 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 splice_region_variant 1.196825 0.96684 0.83283 0.475973 0.814691088641995 0 1.24261908060209e-05 FALSE 8.13703e-06 ENSE00000761652_012 ENSE00000761652 012 6 108214992 108215161 - 50 60 60 G A 108215106 2076 56 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCTCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893901 107893902 107893902 upstr_intron -5 -0.0666666666666667 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCTCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 1344 835 0.999846799268783 0.999621003879415 0.999733901574099 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0594845307274394 0.230506230477443 0.958262506182473 0.854738520971657 NA 0.144995380602441 NA FALSE NA 0.005 -0.16 . splice_region_variant&intron_variant LOW SEC63 HGNC 21082 ENST00000369002 14/20 rs370312823 1 A:0.0004 A:0 A:0 NA A:0.001 A:0 A:0.001 GGG G,A 4.119e-05 6:107893902 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 splice_region_variant 0.383406 0.15526 0.04004 0.106106 0.447130407140093 0.1907 1.24261908060209e-05 FALSE 8.14452e-05 ENSE00000761652_014 ENSE00000761652 014 6 108214992 108215161 - 50 60 60 G C 108215108 2078 54 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCGCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893903 107893904 107893904 upstr_intron -7 -0.1 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCGCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 3686 530 0.00771288732418272 0.00191061305084074 0.00481175018751173 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA -0.932649381217161 -0.767204160351131 0.958262506182473 0.854738520971657 NA -0.849926770784146 NA TRUE NA 0 0.206 NA NA NA SEC63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:107893904 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 splice_region_variant 0.164618 0.22301 0.28271 0.106106 0.667193446967002 0.133912 1.24261908060209e-05 FALSE 4.07312e-06 ENSE00000761652_015 ENSE00000761652 015 6 108214992 108215161 - 50 60 60 G A 108215109 2079 53 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGTCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893904 107893905 107893905 upstr_intron -8 -0.116666666666667 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGTCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 727 1659 0.995636857304301 0.866812138978735 0.931224498141518 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0552745887629575 0.0976973655767639 0.958262506182473 0.854738520971657 NA 0.0764859771698607 NA FALSE NA 0 0.09 . splice_region_variant&intron_variant LOW SEC63 HGNC 21082 ENST00000369002 14/20 rs200086032 1 NA GGC G,A 2.471e-05 6:107893905 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 splice_region_variant 0.316575 0.16756 0.08158 0.106106 0.542916021266368 0.133912 1.24261908060209e-05 FALSE 2.03726e-05 ENSE00000761652_016 ENSE00000761652 016 6 108214992 108215161 - 50 60 60 G A 108215111 2080 51 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCTGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893906 107893907 107893907 upstr_intron -10 -0.15 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCTGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 357 59 0.944486868662787 0.917464236178241 0.930975552420514 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.00412460012144311 0.14834946277627 0.958262506182473 0.854738520971657 NA 0.0762370314488564 NA FALSE NA 0 0.33 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 14/20 1 NA CGG G,A 1.647e-05 6:107893907 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 intron_variant 0.440345 0.08982 0.00074 0.106106 0.514819277257739 0.121998 1.24261908060209e-05 FALSE 1.63082e-05 ENSE00000761652_017 ENSE00000761652 017 6 108214992 108215161 - 50 60 60 G A 108215112 2081 50 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGTCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893907 107893908 107893908 upstr_intron -11 -0.166666666666667 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGTCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 2024 174 0.995606038730137 0.973200673646874 0.984403356188505 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0552437701887936 0.204085900244902 0.958262506182473 0.854738520971657 NA 0.129664835216848 NA FALSE NA 0.001 0.576 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 14/20 1 NA GGC G,A 8.237e-06 6:107893908 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 intron_variant 0.774284 0.28307 0.21378 0.106106 0.641770627305598 0.121998 1.24261908060209e-05 FALSE NA ENSE00000761652_018 ENSE00000761652 018 6 108214992 108215161 - 50 60 60 T A 108215125 2082 37 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTTTTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893920 107893921 107893921 upstr_intron -24 -0.383333333333333 TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTTTTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 359 667 0.998288158781267 0.997390405119087 0.997839281950177 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0579258902399234 0.228275631717116 0.958262506182473 0.854738520971657 NA 0.143100760978519 NA FALSE NA 0 -5.018 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 14/20 1 NA ATA T,A 8.238e-06 6:107893921 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 intron_variant 0.522745 0.08564 0.01454 0.099367 0.750071623155492 0.0708573 1.24261908060209e-05 FALSE 4.09373e-06 ENSE00000761652_020 ENSE00000761652 020 6 108214992 108215161 - 50 60 60 G A 108215135 2084 27 TTGTCTGAAAGATAAATATAGGTTGATAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893930 107893931 107893931 upstr_intron -34 -0.55 TTGTCTGAAAGATAAATATAGGTTGATAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 957 923 0.863803166745023 0.877367976014649 0.870585571379836 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA -0.0765591017963204 0.108253202612677 0.958262506182473 0.854738520971657 NA 0.0158470504081785 NA FALSE NA 0 0.003 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 14/20 1 NA TGT G,A 1.648e-05 6:107893931 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 intron_variant 0.866917 0.26345 0.0352 0.099367 0.779633987046032 0.0708573 1.24261908060209e-05 FALSE 8.26487e-06 ENSE00000761652_021 ENSE00000761652 021 6 108214992 108215161 - 50 60 60 T A 108215142 2085 20 TTGTCTGAAAGATAAATATTGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 107893937 107893938 107893938 upstr_intron -41 -0.666666666666667 TTGTCTGAAAGATAAATATTGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT mutant NA NA NA NA NA 629 1886 0.984917994572472 0.997129576438187 0.99102378550533 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 NA NA 0.0445557260311286 0.228014803036216 0.958262506182473 0.854738520971657 NA 0.136285264533672 NA FALSE NA 0 -0.472 . intron_variant MODIFIER SEC63 HGNC 21082 ENST00000369002 14/20 1 NA CTA T,A 8.241e-06 6:107893938 SEC63 HGNC Symbol protein_coding 90433 ENSG00000025796 ENSE00000761652 intron_variant 0.940403 0.16936 0.12201 0.099367 0.800635385708188 0.0708573 1.24261908060209e-05 FALSE 4.18834e-06 ENSE00000761652_BRK ENSE00000761652 BRK 6 108214992 108215161 - 50 60 60 A,G; T,T NA NA NA TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCTTGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGCCAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT 107893787 107893957 NA NA NA NA NA NA TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCTTGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGCCAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT TTGTCTGAAAGATAAATATAGGTTGACAGATTTTGTATTTCTCTTCTTGCCGCCCCCCAGGAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGGGTAAAAACTTGGGTTTCCGAACCTATTTTTCCTAGTGAAAGAAATATTTT control 562 139 0.00234312999925127 0 0.00117156499962563 NA NA NA NA NA 0.963704784101924 0.952820228263022 0.940362268541344 0.769114773401971 -0.961361654102673 -0.952820228263022 NA NA 0.958262506182473 0.854738520971657 -0.957090941182848 NA NA NA TRUE NA NA NA NA NA SEC63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC63 NA NA NA ENSG00000025796 ENSE00000761652 NA NA NA NA NA NA NA 1.24261908060209e-05 FALSE NA ENSE00000763518_000 ENSE00000763518 000 1 32622410 32622579 + 44 93 33 NA NA NA NA NA TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG 32156808 32156978 NA NA NA NA NA NA TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG natural NA NA NA NA NA 2100 1043 0.961494710109405 0.988143992826029 0.974819351467717 NA NA 0.961494710109405 0.988143992826029 NA NA 0 0 NA 0.974819351467717 NA 0 NA FALSE NA NA NA NA NA NA KPNA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KPNA6 NA NA NA ENSG00000025800 ENSE00003462921 NA NA NA NA NA NA NA 0.988827605869537 TRUE NA ENSE00000763518_001 ENSE00000763518 001 1 32622410 32622579 + 44 93 33 C G 32622426 1123 17 TTTGGTTCAGAGAGTAGTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG 32156808 32156978 32156824 32156825 32156825 upstr_intron -28 -0.613636363636364 TTTGGTTCAGAGAGTAGTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG mutant NA NA NA NA NA 51 48 1 1 1 NA NA 0.961494710109405 0.988143992826029 NA NA 0.0385052898905947 0.0118560071739711 NA 0.974819351467717 NA 0.0251806485322829 NA FALSE NA 0 -0.553 . intron_variant MODIFIER KPNA6 HGNC 6399 ENST00000545542 2/13 1 NA ACT C,G 8.236e-06 1:32156825 KPNA6 HGNC Symbol protein_coding 68530 ENSG00000025800 ENSE00003462921 intron_variant -0.123346 0.12813 0.00556 0.295142 0.416423175212374 0.046875 0.988827605869537 TRUE 4.07365e-06 ENSE00000763518_004 ENSE00000763518 004 1 32622410 32622579 + 44 93 33 C T 32622451 1126 42 TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTTAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG 32156808 32156978 32156849 32156850 32156850 upstr_intron -3 -0.0454545454545455 TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTTAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG mutant NA NA NA NA NA 226 658 1 1 1 NA NA 0.961494710109405 0.988143992826029 NA NA 0.0385052898905947 0.0118560071739711 NA 0.974819351467717 NA 0.0251806485322829 NA FALSE NA 0.953 2.066 . splice_region_variant&intron_variant LOW KPNA6 HGNC 6399 ENST00000545542 2/13 rs368173714 1 NA T:0 T:0.0001 TCA C,T 8.236e-06 1:32156850 KPNA6 HGNC Symbol protein_coding 68530 ENSG00000025800 ENSE00003462921 splice_region_variant 2.223018 0.98556 0.93311 0.295142 0.941909009179063 0.815608 0.988827605869537 TRUE 4.06428e-06 ENSE00000763518_008 ENSE00000763518 008 1 32622410 32622579 + 44 93 33 C T 32622497 1130 88 TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGTCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG 32156808 32156978 32156895 32156896 32156896 exon 44 0.473118279569892 TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGTCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG mutant NA NA NA NA NA 338 593 0.980313422596241 1 0.990156711298121 NA NA 0.961494710109405 0.988143992826029 NA NA 0.0188187124868361 0.0118560071739711 NA 0.974819351467717 NA 0.0153373598304036 NA FALSE NA 1 2.988 . missense_variant MODERATE KPNA6 HGNC 6399 ENST00000545542 3/14 1 benign(0.001) NA GCC C,T 1.647e-05 1:32156896 KPNA6 HGNC Symbol protein_coding 68530 ENSG00000025800 ENSE00003462921 missense_variant 3.361014 0.98799 0.96154 0.706548 0.996383206989457 0 0.988827605869537 TRUE 8.12321e-06 ENSE00000763518_014 ENSE00000763518 014 1 32622410 32622579 + 44 93 33 C T 32622540 1136 131 TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACTACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG 32156808 32156978 32156938 32156939 32156939 exon -7 0.935483870967742 TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACTACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG mutant NA NA NA NA NA 81 143 1 0.87048958132987 0.935244790664935 NA NA 0.961494710109405 0.988143992826029 NA NA 0.0385052898905947 -0.117654411496159 NA 0.974819351467717 NA -0.0395745608027819 NA FALSE NA 0.958 -0.885 . synonymous_variant LOW KPNA6 HGNC 6399 ENST00000545542 3/14 rs200884793 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 CCA C,T 8.236e-06 1:32156939 KPNA6 HGNC Symbol protein_coding 68530 ENSG00000025800 ENSE00003462921 synonymous_variant 1.588358 0.97486 0.11399 0.706548 0.608955019732143 0 0.988827605869537 TRUE 4.06329e-06 ENSE00000763518_015 ENSE00000763518 015 1 32622410 32622579 + 44 93 33 C A 32622553 1137 144 TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGACCCTGCATGTGCCTCAGGCTGACCTG 32156808 32156978 32156951 32156952 32156952 downstr_intron 7 1.21875 TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGACCCTGCATGTGCCTCAGGCTGACCTG TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG mutant NA NA NA NA NA 89 432 1 0.863333695991002 0.931666847995501 NA NA 0.961494710109405 0.988143992826029 NA NA 0.0385052898905947 -0.124810296835027 NA 0.974819351467717 NA -0.0431525034722163 NA FALSE NA 0 0.821 NA NA NA KPNA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:32156952 KPNA6 HGNC Symbol protein_coding 68530 ENSG00000025800 ENSE00003462921 splice_region_variant 0.731903 0.26487 0.26208 0.099367 0.536255303393504 0.0783923 0.988827605869537 TRUE 1.63119e-05 ENSE00000763518_BRK ENSE00000763518 BRK 1 32622410 32622579 + 44 93 33 A,G; T,T NA NA NA TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCTTCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGCCAAGGCCCCTGCATGTGCCTCAGGCTGACCTG 32156808 32156978 NA NA NA NA NA NA TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCTTCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGCCAAGGCCCCTGCATGTGCCTCAGGCTGACCTG TTTGGTTCAGAGAGTACTCTTAACCACTGTCTCTTTACTTTCAGCTTTTTAAACGGAGAAATGTGGAGCTGATTAATGAAGAAGCTGCCATGTTCGATAGTCTTCTCATGGACTCTTATGTGAGCTCTACCACTGGGGTAAGGCCCCTGCATGTGCCTCAGGCTGACCTG control NA NA NA NA NA 304 213 0 0 0 NA NA 0.961494710109405 0.988143992826029 NA NA -0.961494710109405 -0.988143992826029 NA 0.974819351467717 NA -0.974819351467717 NA TRUE NA NA NA NA NA NA KPNA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KPNA6 NA NA NA ENSG00000025800 ENSE00003462921 NA NA NA NA NA NA NA 0.988827605869537 TRUE NA ENSE00000765171_000 ENSE00000765171 000 6 150535832 150536001 + 48 84 38 NA NA NA NA NA CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 NA NA NA NA NA NA GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG natural 158 50 0.996841112840511 0.992878453380617 0.994859783110564 3989 2271 0.993159744785447 0.989515790412999 0.991337767599223 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 0 0 0 0 0.994859783110564 0.991337767599223 0 0 0 FALSE FALSE NA NA NA NA NA PPP1R14C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R14C NA NA NA ENSG00000198729 ENSE00000765171 NA NA NA NA NA NA NA 0.00467814206611273 FALSE NA ENSE00000765171_001 ENSE00000765171 001 6 150535832 150536001 + 48 84 38 A G 150535850 2391 19 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCACTTAATTTAGTAAGAAACC 150214695 150214865 150214713 150214714 150214714 upstr_intron -30 -0.604166666666667 GGTTTCTTACTAAATTAAGTGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 656 675 0.996888215954389 0.99782834869867 0.997358282326529 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00372847116894182 0.00831255828567068 0.994859783110564 0.991337767599223 NA 0.00602051472730625 NA FALSE NA 0.034 1.516 . intron_variant MODIFIER PPP1R14C HGNC 14952 ENST00000361131 1/3 rs199617066 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0 G:0.0001 AAT A 0.0002224 6:150214714 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 intron_variant 0.505524 0.77543 0.13363 0.053691 0.820578111346411 0.878912 0.00467814206611273 FALSE 0.000246338 ENSE00000765171_002 ENSE00000765171 002 6 150535832 150536001 + 48 84 38 A C 150535858 2392 27 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATAGGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214721 150214722 150214722 upstr_intron -22 -0.4375 GGTTTCTTACTAAATTAAATGCCTTCCTATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 668 439 0.995791478704808 1 0.997895739352404 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00263173391936067 0.010484209587001 0.994859783110564 0.991337767599223 NA 0.00655797175318085 NA FALSE NA 0 -1.862 . intron_variant MODIFIER PPP1R14C HGNC 14952 ENST00000361131 1/3 rs201680057 1 NA CAT A 1.647e-05 6:150214722 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 intron_variant -0.127689 0.29293 0.046 0.053691 0.60142478267713 0.0455939 0.00467814206611273 FALSE 3.26763e-05 ENSE00000765171_004 ENSE00000765171 004 6 150535832 150536001 + 48 84 38 C T 150535865 2394 34 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGAAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214728 150214729 150214729 upstr_intron -15 -0.291666666666667 GGTTTCTTACTAAATTAAATGCCTTCATATCCTTCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 559 500 0.950135940829726 0.985292817130975 0.967714378980351 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA -0.0430238039557211 -0.00422297328202348 0.994859783110564 0.991337767599223 NA -0.0236233886188723 NA FALSE NA 0 -0.405 rs78039179 intron_variant MODIFIER PPP1R14C HGNC 14952 ENST00000361131 1/3 rs78039179 1 T:0.0084 T:0.0015 T:0.0115 NA T:0 T:0.0308 T:0.001 T:0.0045 T:0.0178 TCC C 0.014 6:150214729 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 intron_variant -0.127071 0.16884 0.05985 0.053691 0.212081856220056 0.0455939 0.00467814206611273 FALSE 0.014556 ENSE00000765171_005 ENSE00000765171 005 6 150535832 150536001 + 48 84 38 C T 150535866 2395 35 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGAGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214729 150214730 150214730 upstr_intron -14 -0.270833333333333 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCTCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 66 390 1 1 1 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 0.010484209587001 0.994859783110564 0.991337767599223 NA 0.00866223240077679 NA FALSE NA 0 -1.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:150214730 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 intron_variant 0.034286 0.19125 0.02352 0.053691 0.330677202405456 0.0455939 0.00467814206611273 FALSE 0.0101903 ENSE00000765171_006 ENSE00000765171 006 6 150535832 150536001 + 48 84 38 C A 150535866 2396 35 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGTGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214729 150214730 150214730 upstr_intron -14 -0.270833333333333 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCACACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 232 963 0.996680741733107 0.997307490494423 0.996994116113765 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00352099694765906 0.00779170008142449 0.994859783110564 0.991337767599223 NA 0.00565634851454178 NA FALSE NA 0 -1.27 NA NA NA PPP1R14C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R14C NA NA NA ENSG00000198729 ENSE00000765171 intron_variant 0.009297 0.18451 0.08882 0.053691 0.436960022960615 0.0455939 0.00467814206611273 FALSE 8.162e-06 ENSE00000765171_007 ENSE00000765171 007 6 150535832 150536001 + 48 84 38 C T 150535869 2397 38 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAATGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214732 150214733 150214733 upstr_intron -11 -0.208333333333333 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCATTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 366 155 0.994429611685795 1 0.997214805842898 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00126986690034803 0.010484209587001 0.994859783110564 0.991337767599223 NA 0.00587703824367453 NA FALSE NA 0 -0.096 . intron_variant MODIFIER PPP1R14C HGNC 14952 ENST00000361131 1/3 1 NA ACT C 8.236e-06 6:150214733 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 intron_variant 0.061231 0.17462 0.01023 0.053691 0.247451305361882 0.0797081 0.00467814206611273 FALSE 4.0784e-06 ENSE00000765171_008 ENSE00000765171 008 6 150535832 150536001 + 48 84 38 C T 150535872 2398 41 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGACAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214735 150214736 150214736 upstr_intron -8 -0.145833333333333 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGTCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 765 132 1 1 1 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 0.010484209587001 0.994859783110564 0.991337767599223 NA 0.00866223240077679 NA FALSE NA 0 -0.988 . splice_region_variant&intron_variant LOW PPP1R14C HGNC 14952 ENST00000361131 1/3 1 NA GCC C 1.647e-05 6:150214736 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 splice_region_variant -0.193919 0.13136 0.00184 0.053691 0.385949638237096 0.0789282 0.00467814206611273 FALSE 8.1656e-06 ENSE00000765171_009 ENSE00000765171 009 6 150535832 150536001 + 48 84 38 C A 150535873 2399 42 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGTGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214736 150214737 150214737 upstr_intron -7 -0.125 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCACCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 358 147 1 1 1 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 0.010484209587001 0.994859783110564 0.991337767599223 NA 0.00866223240077679 NA FALSE NA 0 -0.383 . splice_region_variant&intron_variant LOW PPP1R14C HGNC 14952 ENST00000361131 1/3 rs553643238 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 CCC C 7.413e-05 6:150214737 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 splice_region_variant 0.333352 0.2569 0.00917 0.053691 0.414392523536652 0.0903884 0.00467814206611273 FALSE 4.48741e-05 ENSE00000765171_010 ENSE00000765171 010 6 150535832 150536001 + 48 84 38 C T 150535874 2400 43 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGAGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214737 150214738 150214738 upstr_intron -6 -0.104166666666667 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCTCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 225 782 1 0.95787972129853 0.978939860649265 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 -0.0316360691144687 0.994859783110564 0.991337767599223 NA -0.0123979069499581 NA FALSE NA 0 -0.405 . splice_region_variant&intron_variant LOW PPP1R14C HGNC 14952 ENST00000361131 1/3 rs573327107 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCC C 3.295e-05 6:150214738 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 splice_region_variant 0.233218 0.21993 0.0297 0.053691 0.243710914362415 0.0964523 0.00467814206611273 FALSE 3.26134e-05 ENSE00000765171_011 ENSE00000765171 011 6 150535832 150536001 + 48 84 38 C G 150535877 2401 46 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTCGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214740 150214741 150214741 upstr_intron -3 -0.0416666666666667 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCGAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 1109 274 0.99959108962497 1 0.999795544812485 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.0064313448395229 0.010484209587001 0.994859783110564 0.991337767599223 NA 0.00845777721326196 NA FALSE NA 0.053 0.238 . splice_region_variant&intron_variant LOW PPP1R14C HGNC 14952 ENST00000361131 1/3 1 NA CCA C 8.236e-06 6:150214741 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 splice_region_variant 0.695559 0.34774 0.24433 0.053691 0.61136340390174 0.221195 0.00467814206611273 FALSE 4.07661e-06 ENSE00000765171_012 ENSE00000765171 012 6 150535832 150536001 + 48 84 38 A C 150535894 2402 63 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCGGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214757 150214758 150214758 exon 15 0.178571428571429 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCCGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 733 539 0.999790878042523 0.999148197776384 0.999469537909454 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00663113325707598 0.00963240736338489 0.994859783110564 0.991337767599223 NA 0.00813177031023044 NA FALSE NA 0.997 0.491 . synonymous_variant LOW PPP1R14C HGNC 14952 ENST00000361131 2/4 1 NA CAG A 1.647e-05 6:150214758 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 synonymous_variant -0.172258 0.96927 0.62317 0.554377 0.767292244519776 0 0.00467814206611273 FALSE 8.15022e-06 ENSE00000765171_013 ENSE00000765171 013 6 150535832 150536001 + 48 84 38 A G 150535896 2403 65 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCCCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214759 150214760 150214760 exon 17 0.202380952380952 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGGGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 3211 835 0.999150983837789 0.999954410132931 0.99955269698536 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.005991239052342 0.0104386197199324 0.994859783110564 0.991337767599223 NA 0.00821492938613722 NA FALSE NA 1 6.857 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 rs201378659 1 deleterious(0) probably_damaging(0.983) NA GAG A 3.295e-05 6:150214760 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 6.725359 0.98846 0.95244 0.554377 0.998844463683959 0 0.00467814206611273 FALSE 2.44453e-05 ENSE00000765171_014 ENSE00000765171 014 6 150535832 150536001 + 48 84 38 T C 150535905 2404 74 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAGTTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214768 150214769 150214769 exon 26 0.30952380952381 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAACTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 1015 1238 1 0.995674215444844 0.997837107722422 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 0.00615842503184527 0.994859783110564 0.991337767599223 NA 0.00649934012319892 NA FALSE NA 1 5.944 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 rs368020036 1 deleterious(0.04) probably_damaging(0.992) NA C:0 C:0.0001 ATT T 8.236e-06 6:150214769 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 4.654156 0.98815 0.92639 0.554377 0.998099366854527 0 0.00467814206611273 FALSE 8.15268e-06 ENSE00000765171_015 ENSE00000765171 015 6 150535832 150536001 + 48 84 38 G T 150535916 2405 85 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATAATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214779 150214780 150214780 exon 37 0.44047619047619 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATTATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 431 152 1 0.974975661723588 0.987487830861794 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 -0.0145401286894111 0.994859783110564 0.991337767599223 NA -0.00384993673742928 NA FALSE NA 1 7.227 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 rs542434998&COSM3777186 1 deleterious(0) probably_damaging(0.969) T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 TGA G 1.647e-05 6:150214780 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 6.70173 0.99101 0.96301 0.554377 0.995898821430527 0 0.00467814206611273 FALSE 1.22332e-05 ENSE00000765171_016 ENSE00000765171 016 6 150535832 150536001 + 48 84 38 T A 150535920 2406 89 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGATGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214783 150214784 150214784 exon 41 0.488095238095238 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCATCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 498 1080 1 0.999287100236771 0.999643550118386 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 0.00977130982377217 0.994859783110564 0.991337767599223 NA 0.00830578251916236 NA FALSE NA 1 5.944 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 1 deleterious(0) probably_damaging(0.999) NA CTT T 8.236e-06 6:150214784 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 6.405104 0.98839 0.93494 0.554377 0.985114039710209 0 0.00467814206611273 FALSE 4.08177e-06 ENSE00000765171_017 ENSE00000765171 017 6 150535832 150536001 + 48 84 38 T C 150535923 2407 92 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAGGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214786 150214787 150214787 exon -41 0.523809523809524 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCCTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 1295 709 0.964156537609137 0.999669263632489 0.981912900620813 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA -0.0290032071763103 0.0101534732194899 0.994859783110564 0.991337767599223 NA -0.00942486697841022 NA FALSE NA 1 5.944 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 1 deleterious(0.03) possibly_damaging(0.861) NA CTT T 8.236e-06 6:150214787 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 5.975637 0.98799 0.92616 0.554377 0.99900357241406 0 0.00467814206611273 FALSE 4.07837e-06 ENSE00000765171_019 ENSE00000765171 019 6 150535832 150536001 + 48 84 38 G A 150535935 2409 104 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCATTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214798 150214799 150214799 exon -29 0.666666666666667 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAATGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 400 404 0.893038630866746 0.994241336566409 0.943639983716577 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA -0.100121113918702 0.00472554615340959 0.994859783110564 0.991337767599223 NA -0.0476977838826461 NA FALSE NA 1 4.066 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 rs561748042 1 tolerated(0.14) possibly_damaging(0.53) A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 AGT G 0.0001977 6:150214799 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 4.635246 0.98479 0.85897 0.554377 0.996421485490689 0 0.00467814206611273 FALSE 0.00015155 ENSE00000765171_020 ENSE00000765171 020 6 150535832 150536001 + 48 84 38 A G 150535944 2410 113 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCCCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214807 150214808 150214808 exon -20 0.773809523809524 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGGGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 258 318 0.994610548113909 1 0.997305274056955 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00145080332846204 0.010484209587001 0.994859783110564 0.991337767599223 NA 0.00596750645773153 NA FALSE NA 1 5.102 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 1 deleterious(0.01) benign(0.306) NA GAG A 8.236e-06 6:150214808 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 4.77547 0.98173 0.88556 0.554377 0.994978848340228 0 0.00467814206611273 FALSE 8.26405e-06 ENSE00000765171_021 ENSE00000765171 021 6 150535832 150536001 + 48 84 38 A G 150535946 2411 115 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCCCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214809 150214810 150214810 exon -18 0.797619047619048 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGGGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 507 16 1 1 1 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 0.010484209587001 0.994859783110564 0.991337767599223 NA 0.00866223240077679 NA FALSE NA 1 3.835 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 1 deleterious(0) probably_damaging(0.992) NA GAG A 8.236e-06 6:150214810 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 6.778804 0.98846 0.89616 0.554377 0.997823348342986 0 0.00467814206611273 FALSE 4.13025e-06 ENSE00000765171_023 ENSE00000765171 023 6 150535832 150536001 + 48 84 38 T C 150535951 2413 120 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAATTTTGAGGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214814 150214815 150214815 exon -13 0.857142857142857 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCCTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 414 4433 0.994464747332129 0.998920741777564 0.996692744554847 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00130500254668198 0.00940495136456487 0.994859783110564 0.991337767599223 NA 0.00535497695562343 NA FALSE NA 0.466 0.607 . synonymous_variant LOW PPP1R14C HGNC 14952 ENST00000361131 2/4 1 NA CTT T 1.647e-05 6:150214815 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 synonymous_variant 0.400262 0.96426 0.38576 0.554377 0.696082630564547 0 0.00467814206611273 FALSE 2.06682e-05 ENSE00000765171_024 ENSE00000765171 024 6 150535832 150536001 + 48 84 38 A C 150535957 2414 126 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTAAGTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214820 150214821 150214821 exon -7 0.928571428571429 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAACTTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 1185 717 1 0.99833742357523 0.999168711787615 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00684025521455256 0.00882163316223084 0.994859783110564 0.991337767599223 NA 0.0078309441883917 NA FALSE NA 1 2.59 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 rs530672984 1 deleterious(0) possibly_damaging(0.856) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 AAT A 4.118e-05 6:150214821 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 5.182915 0.96957 0.83877 0.554377 0.997594756833774 0 0.00467814206611273 FALSE 4.95274e-05 ENSE00000765171_025 ENSE00000765171 025 6 150535832 150536001 + 48 84 38 T C 150535959 2415 128 CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTACCTGTGATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214822 150214823 150214823 exon -5 0.952380952380952 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATCACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 534 1994 0.995064187463907 0.998824659346142 0.996944423405024 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00190444267845957 0.00930886893314253 0.994859783110564 0.991337767599223 NA 0.00560665580580105 NA FALSE NA 1 5.944 . missense_variant MODERATE PPP1R14C HGNC 14952 ENST00000361131 2/4 1 deleterious(0) probably_damaging(0.985) NA TTA T 8.236e-06 6:150214823 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 missense_variant 6.495509 0.98815 0.92639 0.554377 0.998036581617024 0 0.00467814206611273 FALSE 4.12446e-06 ENSE00000765171_027 ENSE00000765171 027 6 150535832 150536001 + 48 84 38 T C 150535974 2417 143 CCATGATTAGAAGGTTCTCAATTTTGGGAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214837 150214838 150214838 downstr_intron 11 1.2972972972973 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTCCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 577 1085 0.998925214458581 0.999577982061714 0.999251598260148 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00576546967313363 0.0100621916487149 0.994859783110564 0.991337767599223 NA 0.00791383066092427 NA FALSE NA 0 -0.093 . intron_variant MODIFIER PPP1R14C HGNC 14952 ENST00000361131 2/3 rs374196736 1 NA C:0 C:0.0001 TTC T 1.647e-05 6:150214838 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 intron_variant 0.57745 0.24014 0.04487 0.053691 0.723736393927977 0.0514858 0.00467814206611273 FALSE 1.68258e-05 ENSE00000765171_029 ENSE00000765171 029 6 150535832 150536001 + 48 84 38 G T 150535983 2419 152 CCATGATTAGAAGGTTCTAAATTTTGGAAACTGCTTACCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCCTGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 150214846 150214847 150214847 downstr_intron 20 1.54054054054054 GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTTAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG mutant NA NA NA NA NA 887 540 0.999674773892866 0.998290444196259 0.998982609044562 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA 0.00651502910741875 0.00877465378325959 0.994859783110564 0.991337767599223 NA 0.00764484144533917 NA FALSE NA 0 0.574 . intron_variant MODIFIER PPP1R14C HGNC 14952 ENST00000361131 2/3 rs374481618 1 NA T:0 T:0.0001 TGA G 8.236e-06 6:150214847 PPP1R14C HGNC Symbol protein_coding 107281 ENSG00000198729 ENSE00000765171 intron_variant -0.334964 0.19083 0.00198 0.053691 0.585454384549832 0.0448725 0.00467814206611273 FALSE 8.37486e-06 ENSE00000765171_BRK ENSE00000765171 BRK 6 150535832 150536001 + 48 84 38 A,G; T,T NA NA NA CCATGATTAGAAGGTTCTCAATTTTGGAAACTGCTTGGCTGTAATTTTGAAGCTCTCTCTTCATCACTGTCTGCATCAAGAAGATCATCAATGTCAATTTCTACCTCTGGCATTTCTTCTTCAAGGGGGGCAGTGGGAGGATATGAAGGCATTTAATTTAGTAAGAAACC 150214695 150214865 NA NA NA NA NA NA GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCTTGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGCCAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG GGTTTCTTACTAAATTAAATGCCTTCATATCCTCCCACTGCCCCCCAGGAAGAAGAAATGCCAGAGGTAGAAATTGACATTGATGATCTTCTTGATGCAGACAGTGATGAAGAGAGAGCTTCAAAATTACAGGTAAGCAGTTTCCAAAATTGAGAACCTTCTAATCATGG control NA NA NA NA NA 538 79 0.163914813705679 0.0064373612107985 0.0851760874582389 0.996841112840511 0.992878453380617 0.993159744785447 0.989515790412999 NA NA -0.829244931079768 -0.9830784292022 0.994859783110564 0.991337767599223 NA -0.906161680140984 NA TRUE NA NA NA NA NA NA PPP1R14C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R14C NA NA NA ENSG00000198729 ENSE00000765171 NA NA NA NA NA NA NA 0.00467814206611273 FALSE NA ENSE00000766013_000 ENSE00000766013 000 6 165844856 165845025 - 54 51 65 NA NA NA NA NA TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 NA NA NA NA NA NA TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG natural NA NA NA NA NA 3615 4065 0.88620118224305 0.994863400430233 0.940532291336641 NA NA 0.88620118224305 0.994863400430233 NA NA 0 0 NA 0.940532291336641 NA 0 NA FALSE NA NA NA NA NA NA PDE10A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE10A NA NA NA ENSG00000112541 ENSE00000766013 NA NA NA NA NA NA NA 0.998485350613982 TRUE NA ENSE00000766013_001 ENSE00000766013 001 6 165844856 165845025 - 54 51 65 C T 165844869 2784 157 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAAAAGAGGTTTTTGG 165431367 165431537 165431380 165431381 165431381 downstr_intron 41 1.77358490566038 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAAAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 824 784 1 0.990788804793182 0.995394402396591 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 -0.00407459563705082 NA 0.940532291336641 NA 0.0548621110599496 NA FALSE NA 0 -0.858 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 8/21 1 NA TCT C,T 1.647e-05 6:165431381 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant 0.150044 0.17012 0.00504 0.053691 0.603345953824649 0.0436289 0.998485350613982 TRUE 1.32809e-05 ENSE00000766013_002 ENSE00000766013 002 6 165844856 165845025 - 54 51 65 T G 165844870 2785 156 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGCGAAGAGGTTTTTGG 165431367 165431537 165431381 165431382 165431382 downstr_intron 40 1.75471698113208 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGCGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 857 110 1 1 1 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.0051365995697672 NA 0.940532291336641 NA 0.0594677086633587 NA FALSE NA 0 0.138 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 8/21 rs201146645 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CTC T,G 8.236e-06 6:165431382 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant 0.267654 0.18218 0.04788 0.053691 0.545942799077986 0.0762545 0.998485350613982 TRUE 4.4211e-06 ENSE00000766013_003 ENSE00000766013 003 6 165844856 165845025 - 54 51 65 C T 165844871 2786 155 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGAAGAAGAGGTTTTTGG 165431367 165431537 165431382 165431383 165431383 downstr_intron 39 1.73584905660377 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGAAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 141 1390 1 0.996041524438202 0.998020762219101 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.00117812400796879 NA 0.940532291336641 NA 0.0574884708824595 NA FALSE NA 0 -0.668 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 8/21 rs373486229 1 NA T:0 T:0.0001 TCC C,T 2.471e-05 6:165431383 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant 0.12644 0.16625 0.00198 0.053691 0.542503931549084 0.0436289 0.998485350613982 TRUE 1.29733e-05 ENSE00000766013_004 ENSE00000766013 004 6 165844856 165845025 - 54 51 65 G A 165844878 2787 148 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTTCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431389 165431390 165431390 downstr_intron 32 1.60377358490566 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTTCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 26 1461 1 0.999843556392999 0.9999217781965 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.00498015596276646 NA 0.940532291336641 NA 0.0593894868598583 NA FALSE NA 0 -0.806 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 8/21 1 NA GGA G,A 8.236e-06 6:165431390 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant 0.11984 0.13981 0.0055 0.053691 0.642991501739898 0.0436289 0.998485350613982 TRUE 4.27475e-06 ENSE00000766013_005 ENSE00000766013 005 6 165844856 165845025 - 54 51 65 C T 165844882 2788 144 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGACTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431393 165431394 165431394 downstr_intron 28 1.52830188679245 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGACTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 2902 200 0.998344121614028 0.994423858026561 0.996383989820295 NA NA 0.88620118224305 0.994863400430233 NA NA 0.112142939370978 -0.0004395424036715 NA 0.940532291336641 NA 0.0558516984836534 NA FALSE NA 0 -0.196 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 8/21 1 NA GCC C,T 2.471e-05 6:165431394 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant 0.175581 0.13423 0.01981 0.053691 0.750236638740528 0.0431032 0.998485350613982 TRUE 1.68922e-05 ENSE00000766013_006 ENSE00000766013 006 6 165844856 165845025 - 54 51 65 C T 165844884 2789 142 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGAGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431395 165431396 165431396 downstr_intron 26 1.49056603773585 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGAGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 362 1020 1 0.999695359811497 0.999847679905748 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.00483195938126391 NA 0.940532291336641 NA 0.059315388569107 NA FALSE NA 0 -0.025 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 8/21 1 NA CCC C,T 8.236e-06 6:165431396 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant 0.216886 0.25321 0.03214 0.053691 0.709504662571247 0.0779713 0.998485350613982 TRUE 4.21322e-06 ENSE00000766013_008 ENSE00000766013 008 6 165844856 165845025 - 54 51 65 A G 165844900 2791 126 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTCGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431411 165431412 165431412 downstr_intron 10 1.18867924528302 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTCGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 278 73 1 1 1 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.0051365995697672 NA 0.940532291336641 NA 0.0594677086633587 NA FALSE NA 0 -3.448 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 8/21 1 NA CAA A,G 8.236e-06 6:165431412 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant 0.006141 0.14197 0.00949 0.053691 0.509829221973991 0.0431032 0.998485350613982 TRUE 8.28844e-06 ENSE00000766013_011 ENSE00000766013 011 6 165844856 165845025 - 54 51 65 T C 165844924 2794 102 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAGTACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431435 165431436 165431436 exon -15 0.725490196078431 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAGTACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 801 957 0.964905241644511 0.896471457932441 0.930688349788476 NA NA 0.88620118224305 0.994863400430233 NA NA 0.078704059401461 -0.0983919424977919 NA 0.940532291336641 NA -0.00984394154816548 NA FALSE NA 1 7.729 . missense_variant MODERATE PDE10A HGNC 8772 ENST00000354448 8/22 1 deleterious(0.02) possibly_damaging(0.578) NA ATT T,C 2.471e-05 6:165431436 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 missense_variant 4.457479 0.99374 0.98977 0.638212 0.992206938930527 0 0.998485350613982 TRUE 1.6434e-05 ENSE00000766013_012 ENSE00000766013 012 6 165844856 165845025 - 54 51 65 T C 165844931 2795 95 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCGGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431442 165431443 165431443 exon -22 0.588235294117647 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCGGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 512 22 0.993708064867751 1 0.996854032433875 NA NA 0.88620118224305 0.994863400430233 NA NA 0.107506882624701 0.0051365995697672 NA 0.940532291336641 NA 0.0563217410972341 NA FALSE NA 0.006 -1.804 . synonymous_variant LOW PDE10A HGNC 8772 ENST00000354448 8/22 1 NA CTG T,C 8.236e-06 6:165431443 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 synonymous_variant 1.036096 0.96449 0.19396 0.638212 0.757101032299083 0 0.998485350613982 TRUE NA ENSE00000766013_013 ENSE00000766013 013 6 165844856 165845025 - 54 51 65 T C 165844947 2796 79 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAGTCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431458 165431459 165431459 exon 14 0.274509803921569 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAGTCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 932 250 1 0.981136107653439 0.990568053826719 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 -0.0137272927767941 NA 0.940532291336641 NA 0.050035762490078 NA FALSE NA 1 5.845 . missense_variant MODERATE PDE10A HGNC 8772 ENST00000354448 8/22 COSM483674 1 tolerated(0.17) possibly_damaging(0.61) NA ATT T,C 8.236e-06 6:165431459 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 missense_variant 3.704165 0.98935 0.97907 0.638212 0.978445914775682 0 0.998485350613982 TRUE 2.87585e-05 ENSE00000766013_014 ENSE00000766013 014 6 165844856 165845025 - 54 51 65 T C 165844955 2797 71 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCGACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431466 165431467 165431467 exon 6 0.117647058823529 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCGACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 128 171 1 1 1 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.0051365995697672 NA 0.940532291336641 NA 0.0594677086633587 NA FALSE NA 0.975 0.058 . synonymous_variant LOW PDE10A HGNC 8772 ENST00000354448 8/22 1 NA TTG T,C 8.236e-06 6:165431467 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 synonymous_variant 0.627933 0.97288 0.8534 0.638212 0.753209495015215 0 0.998485350613982 TRUE NA ENSE00000766013_015 ENSE00000766013 015 6 165844856 165845025 - 54 51 65 C T 165844960 2798 66 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGATTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431471 165431472 165431472 exon 1 0.0196078431372549 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGATTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 50 112 1 0.997934824026042 0.998967412013021 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.00307142359580947 NA 0.940532291336641 NA 0.0584351206763798 NA FALSE NA 1 5.796 . missense_variant&splice_region_variant MODERATE PDE10A HGNC 8772 ENST00000354448 8/22 1 tolerated(0.83) benign(0.014) NA ACC C,T 1.647e-05 6:165431472 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 missense_variant 2.132097 0.99326 0.98495 0.638212 0.925475266943901 0 0.998485350613982 TRUE 8.25321e-06 ENSE00000766013_016 ENSE00000766013 016 6 165844856 165845025 - 54 51 65 A G 165844966 2799 60 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTCTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431477 165431478 165431478 upstr_intron -6 -0.0769230769230769 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTCTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 284 234 0.845990250108628 1 0.922995125054314 NA NA 0.88620118224305 0.994863400430233 NA NA -0.0402109321344216 0.0051365995697672 NA 0.940532291336641 NA -0.0175371662823272 NA FALSE NA 0.006 0.585 . splice_region_variant&intron_variant LOW PDE10A HGNC 8772 ENST00000354448 7/21 1 NA AAA A,G 1.647e-05 6:165431478 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 splice_region_variant 0.21692 0.3526 0.11397 0.053691 0.72913173805024 0.197213 0.998485350613982 TRUE 4.11472e-06 ENSE00000766013_018 ENSE00000766013 018 6 165844856 165845025 - 54 51 65 A G 165844975 2801 51 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTCCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431486 165431487 165431487 upstr_intron -15 -0.215384615384615 TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTCCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 512 161 0.989990881098652 1 0.994995440549326 NA NA 0.88620118224305 0.994863400430233 NA NA 0.103789698855602 0.0051365995697672 NA 0.940532291336641 NA 0.0544631492126848 NA FALSE NA 0 -0.291 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 7/21 1 NA GAA A,G 2.471e-05 6:165431487 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant -0.399876 0.24245 0.06843 0.053691 0.519199477915028 0.0414635 0.998485350613982 TRUE 2.06274e-05 ENSE00000766013_021 ENSE00000766013 021 6 165844856 165845025 - 54 51 65 T C 165844988 2804 38 TATATAGTATATATATATACGTTATGTATTATTACTTGTAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431499 165431500 165431500 upstr_intron -28 -0.415384615384615 TATATAGTATATATATATACGTTATGTATTATTACTTGTAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 1202 1690 0.942892282957562 0.959502223835712 0.951197253396637 NA NA 0.88620118224305 0.994863400430233 NA NA 0.0566911007145123 -0.0353611765945204 NA 0.940532291336641 NA 0.010664962059996 NA FALSE NA 0.038 2.804 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 7/21 rs200634764 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATA T,C 8.239e-06 6:165431500 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant -0.206842 0.14549 0.03401 0.053691 0.539900221067599 0.0414318 0.998485350613982 TRUE NA ENSE00000766013_023 ENSE00000766013 023 6 165844856 165845025 - 54 51 65 A G 165844994 2806 32 TATATAGTATATATATATACGTTATGTATTACTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431505 165431506 165431506 upstr_intron -34 -0.507692307692308 TATATAGTATATATATATACGTTATGTATTACTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 29 10 1 1 1 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.0051365995697672 NA 0.940532291336641 NA 0.0594677086633587 NA FALSE NA 0.482 2.388 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 7/21 rs370885639 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0009 G:0 AAT A,G 9.892e-05 6:165431506 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant -0.167649 0.14021 0.0618 0.053691 0.38444863804802 0.0414318 0.998485350613982 TRUE 5.9497e-05 ENSE00000766013_024 ENSE00000766013 024 6 165844856 165845025 - 54 51 65 A G 165845001 2807 25 TATATAGTATATATATATACGTTACGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431512 165431513 165431513 upstr_intron -41 -0.615384615384615 TATATAGTATATATATATACGTTACGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 449 1633 0.988748629795258 0.941176235657026 0.964962432726142 NA NA 0.88620118224305 0.994863400430233 NA NA 0.102547447552209 -0.0536871647732063 NA 0.940532291336641 NA 0.0244301413895011 NA FALSE NA 0.681 0.862 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 7/21 1 NA CAT A,G 1.672e-05 6:165431513 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant -0.198412 0.27047 0.00481 0.053691 0.526992020618952 0.0719944 0.998485350613982 TRUE NA ENSE00000766013_025 ENSE00000766013 025 6 165844856 165845025 - 54 51 65 C T 165845005 2808 21 TATATAGTATATATATATACATTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431516 165431517 165431517 upstr_intron -45 -0.676923076923077 TATATAGTATATATATATACATTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 495 205 0.89819366981378 0.998453901587432 0.948323785700606 NA NA 0.88620118224305 0.994863400430233 NA NA 0.0119924875707306 0.00359050115719961 NA 0.940532291336641 NA 0.00779149436396509 NA FALSE NA 0.017 -1.385 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:165431517 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant -0.456025 0.06093 0.00093 0.053691 0.539342107790426 0.0414318 0.998485350613982 TRUE NA ENSE00000766013_026 ENSE00000766013 026 6 165844856 165845025 - 54 51 65 C A 165845005 2809 21 TATATAGTATATATATATACTTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431516 165431517 165431517 upstr_intron -45 -0.676923076923077 TATATAGTATATATATATACTTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 66 411 1 0.998031474050548 0.999015737025274 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.00316807362031502 NA 0.940532291336641 NA 0.0584834456886326 NA FALSE NA 0.017 -1.385 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE10A NA NA NA ENSG00000112541 ENSE00000766013 intron_variant -0.365458 0.07088 0.00138 0.053691 0.392650580331234 0.0414318 0.998485350613982 TRUE NA ENSE00000766013_027 ENSE00000766013 027 6 165844856 165845025 - 54 51 65 T G 165845007 2810 19 TATATAGTATATATATATCCGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431518 165431519 165431519 upstr_intron -47 -0.707692307692308 TATATAGTATATATATATCCGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 1675 1115 0.91492585223427 0.999623666394167 0.957274759314219 NA NA 0.88620118224305 0.994863400430233 NA NA 0.0287246699912203 0.00476026596393408 NA 0.940532291336641 NA 0.0167424679775772 NA FALSE NA 0.012 0.157 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:165431519 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant -0.06935 0.08102 0.00319 0.053691 0.326088264848802 0.0414318 0.998485350613982 TRUE 5.90005e-06 ENSE00000766013_028 ENSE00000766013 028 6 165844856 165845025 - 54 51 65 T C 165845007 2811 19 TATATAGTATATATATATGCGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431518 165431519 165431519 upstr_intron -47 -0.707692307692308 TATATAGTATATATATATGCGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 146 38 1 0.995815072593961 0.997907536296981 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 0.000951672163728601 NA 0.940532291336641 NA 0.0573752449603394 NA FALSE NA 0.012 0.157 NA NA NA PDE10A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE10A NA NA NA ENSG00000112541 ENSE00000766013 intron_variant -0.212403 0.09083 0.00412 0.053691 0.379602189358121 0.0414318 0.998485350613982 TRUE 1.18001e-05 ENSE00000766013_029 ENSE00000766013 029 6 165844856 165845025 - 54 51 65 A G 165845008 2812 18 TATATAGTATATATATACACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431519 165431520 165431520 upstr_intron -48 -0.723076923076923 TATATAGTATATATATACACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 177 714 1 0.817142149784002 0.908571074892001 NA NA 0.88620118224305 0.994863400430233 NA NA 0.11379881775695 -0.17772125064623 NA 0.940532291336641 NA -0.0319612164446401 NA FALSE NA 0.012 0.169 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 7/21 1 NA TAT A,G 8.868e-06 6:165431520 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant -0.280986 0.06509 0.00098 0.053691 0.397768542911396 0.0414318 0.998485350613982 TRUE 5.89845e-06 ENSE00000766013_030 ENSE00000766013 030 6 165844856 165845025 - 54 51 65 T C 165845011 2813 15 TATATAGTATATATGTATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 165431522 165431523 165431523 upstr_intron -51 -0.769230769230769 TATATAGTATATATGTATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG mutant NA NA NA NA NA 937 1216 0.999130893154809 0.942826714030284 0.970978803592546 NA NA 0.88620118224305 0.994863400430233 NA NA 0.112929710911759 -0.0520366863999489 NA 0.940532291336641 NA 0.0304465122559051 NA FALSE NA 0.034 -0.543 . intron_variant MODIFIER PDE10A HGNC 8772 ENST00000354448 7/21 1 NA ATA T,C 1.041e-05 6:165431523 PDE10A HGNC Symbol protein_coding 659316 ENSG00000112541 ENSE00000766013 intron_variant -0.465466 0.06852 0.00155 0.053691 0.445283241585891 0.0414318 0.998485350613982 TRUE NA ENSE00000766013_BRK ENSE00000766013 BRK 6 165844856 165845025 - 54 51 65 A,G; T,T NA NA NA TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTTTGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGCCGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG 165431367 165431537 NA NA NA NA NA NA TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTTTGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGCCGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG TATATAGTATATATATATACGTTATGTATTATTACTTATAGGTATGTATTTCTTGTTTTTTTTAGGTTGCAACAGCAAATCTTGCCTGGGCTTCAGTAGCAATACATCAGGTGCAGGTGAGTCTTTGGGGTGTTTTTGCAGGGGCTTCCTAAGGGAGAAGAGGTTTTTGG control NA NA NA NA NA 127 374 0 0 0 NA NA 0.88620118224305 0.994863400430233 NA NA -0.88620118224305 -0.994863400430233 NA 0.940532291336641 NA -0.940532291336641 NA TRUE NA NA NA NA NA NA PDE10A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE10A NA NA NA ENSG00000112541 ENSE00000766013 NA NA NA NA NA NA NA 0.998485350613982 TRUE NA ENSE00000766855_000 ENSE00000766855 000 5 147009203 147009372 - 53 54 63 NA NA NA NA NA CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG 147629639 147629809 NA NA NA NA NA NA CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG natural NA NA NA NA NA 2208 596 0.994612188741201 0.996469995399309 0.995541092070255 NA NA 0.994612188741201 0.996469995399309 NA NA 0 0 NA 0.995541092070255 NA 0 NA FALSE NA NA NA NA NA NA JAKMIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP2 NA NA NA ENSG00000176049 ENSE00000766855 NA NA NA NA NA NA NA 0.999936528336512 TRUE NA ENSE00000767839_000 ENSE00000767839 000 2 86274258 86274427 - 30 99 41 NA NA NA NA NA GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 NA NA NA NA NA NA GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC natural 81 105 1 0.994634269858719 0.99731713492936 1079 1101 0.925832891357961 0.989486468020933 0.957659679689447 1 0.994634269858719 0.925832891357961 0.989486468020933 0 0 0 0 0.99731713492936 0.957659679689447 0 0 0 FALSE FALSE NA NA NA NA NA POLR1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR1A NA NA NA ENSG00000068654 ENSE00000767839 NA NA NA NA NA NA NA 0.999861745940553 TRUE NA ENSE00000767839_002 ENSE00000767839 002 2 86274258 86274427 - 30 99 41 G A 86274274 2016 154 GTAAAGCTGCCAACCCACCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047150 86047151 86047151 downstr_intron 14 1.48275862068966 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGTGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 622 23 0.99842080379981 1 0.999210401899905 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0725879124418491 0.0105135319790673 0.99731713492936 0.957659679689447 NA 0.0415507222104582 NA FALSE NA 0 -0.896 . intron_variant MODIFIER POLR1A HGNC 17264 ENST00000409681 19/33 1 NA CGC G,A 4.13e-05 2:86047151 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 intron_variant 0.505067 0.14403 0.01513 0.295142 0.673135539245327 0.126013 0.999861745940553 TRUE 4.07475e-05 ENSE00000767839_003 ENSE00000767839 003 2 86274258 86274427 - 30 99 41 C T 86274283 2017 145 GTAAAGCTGCCAACCCGCCTCTGCATATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047159 86047160 86047160 downstr_intron 5 1.17241379310345 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATATGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 585 214 0.968079212559173 0.985045912210524 0.976562562384849 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.042246321201212 -0.00444055581040848 0.99731713492936 0.957659679689447 NA 0.0189028826954017 NA FALSE NA 0.011 2.27 . splice_region_variant&intron_variant LOW POLR1A HGNC 17264 ENST00000409681 19/33 1 NA ACA C,T 8.26e-06 2:86047160 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 splice_region_variant 0.934715 0.4867 0.10535 0.156188 0.608225619382036 0.956896 0.999861745940553 TRUE 1.2192e-05 ENSE00000767839_005 ENSE00000767839 005 2 86274258 86274427 - 30 99 41 T C 86274296 2019 132 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGCGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047172 86047173 86047173 exon -9 0.919191919191919 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACGCGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 172 393 0.992082967415197 1 0.996041483707599 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0662500760572364 0.0105135319790673 0.99731713492936 0.957659679689447 NA 0.0383818040181519 NA FALSE NA 1 5.749 . missense_variant MODERATE POLR1A HGNC 17264 ENST00000409681 19/34 1 tolerated(0.11) possibly_damaging(0.874) NA GTG T,C 8.26e-06 2:86047173 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 missense_variant 4.015331 0.98741 0.97256 0.706548 0.990662340532178 0 0.999861745940553 TRUE 4.06167e-06 ENSE00000767839_006 ENSE00000767839 006 2 86274258 86274427 - 30 99 41 C T 86274321 2020 107 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCTGACTGCACCATCATCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047197 86047198 86047198 exon -34 0.666666666666667 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCAGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 20 344 1 0.991860269301834 0.995930134650917 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0741671086420391 0.00237380128090114 0.99731713492936 0.957659679689447 NA 0.0382704549614701 NA FALSE NA 0 -2.032 . synonymous_variant LOW POLR1A HGNC 17264 ENST00000409681 19/34 1 NA CCG C,T 3.305e-05 2:86047198 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 synonymous_variant 1.683428 0.1293 0.02585 0.706548 0.823583192515524 0 0.999861745940553 TRUE 3.65521e-05 ENSE00000767839_007 ENSE00000767839 007 2 86274258 86274427 - 30 99 41 C T 86274333 2021 95 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATTATCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047209 86047210 86047210 exon -46 0.545454545454545 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATAATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 374 211 0.997944946568347 0.999249722426264 0.998597334497306 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0721120552103859 0.00976325440533166 0.99731713492936 0.957659679689447 NA 0.0409376548078588 NA FALSE NA 1 2.148 . missense_variant MODERATE POLR1A HGNC 17264 ENST00000409681 19/34 1 deleterious(0.01) benign(0.002) NA TCA C,T 8.263e-06 2:86047210 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 missense_variant 5.029984 0.99414 0.95648 0.706548 0.994346961765947 0 0.999861745940553 TRUE 1.21839e-05 ENSE00000767839_008 ENSE00000767839 008 2 86274258 86274427 - 30 99 41 T C 86274335 2022 93 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCACCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047211 86047212 86047212 exon -48 0.525252525252525 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGGTGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 323 293 1 0.946230639873507 0.973115319936753 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0741671086420391 -0.0432558281474261 0.99731713492936 0.957659679689447 NA 0.0154556402473065 NA FALSE NA 1 2.006 . missense_variant MODERATE POLR1A HGNC 17264 ENST00000409681 19/34 1 deleterious(0) benign(0.002) NA ATC T,C 8.263e-06 2:86047212 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 missense_variant 2.947474 0.97285 0.89656 0.706548 0.97756545006517 0 0.999861745940553 TRUE 4.06114e-06 ENSE00000767839_009 ENSE00000767839 009 2 86274258 86274427 - 30 99 41 C T 86274343 2023 85 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGTTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047219 86047220 86047220 exon 44 0.444444444444444 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAACCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 380 469 0.994634273923023 0.820971553527631 0.907802913725327 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.068801382565062 -0.168514914493302 0.99731713492936 0.957659679689447 NA -0.0498567659641199 NA FALSE NA 1 5.734 . missense_variant MODERATE POLR1A HGNC 17264 ENST00000409681 19/34 1 tolerated(1) benign(0) NA GCT C,T 8.264e-06 2:86047220 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 missense_variant 1.26227 0.97826 0.50699 0.706548 0.887688020345331 0 0.999861745940553 TRUE 4.06134e-06 ENSE00000767839_010 ENSE00000767839 010 2 86274258 86274427 - 30 99 41 T C 86274351 2024 77 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCCGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047227 86047228 86047228 exon 36 0.363636363636364 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCGGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 444 31 1 1 1 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0741671086420391 0.0105135319790673 0.99731713492936 0.957659679689447 NA 0.0423403203105532 NA FALSE NA 0.122 -0.691 . synonymous_variant LOW POLR1A HGNC 17264 ENST00000409681 19/34 1 NA CTG T,C 8.265e-06 2:86047228 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 synonymous_variant 0.847155 0.95045 0.35398 0.706548 0.746479236622892 0 0.999861745940553 TRUE 4.06174e-06 ENSE00000767839_011 ENSE00000767839 011 2 86274258 86274427 - 30 99 41 G A 86274352 2025 76 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCTAGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047228 86047229 86047229 exon 35 0.353535353535354 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCTAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 478 127 1 1 1 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0741671086420391 0.0105135319790673 0.99731713492936 0.957659679689447 NA 0.0423403203105532 NA FALSE NA 1 9.162 . missense_variant MODERATE POLR1A HGNC 17264 ENST00000409681 19/34 1 deleterious(0) probably_damaging(0.975) NA TGG G,A 8.265e-06 2:86047229 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 missense_variant 7.044969 0.99429 0.99237 0.706548 0.997832877535473 0 0.999861745940553 TRUE 8.12374e-06 ENSE00000767839_012 ENSE00000767839 012 2 86274258 86274427 - 30 99 41 G A 86274365 2026 63 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCTGGGAACTGTCTGTATAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047241 86047242 86047242 exon 22 0.222222222222222 GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTATACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 634 190 0.999087688679859 0.985579622173245 0.992333655426552 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0732547973218985 -0.00390684584768808 0.99731713492936 0.957659679689447 NA 0.0346739757371052 NA FALSE NA 1 7.355 . missense_variant MODERATE POLR1A HGNC 17264 ENST00000409681 19/34 1 tolerated(0.83) possibly_damaging(0.728) NA TGT G,A 8.267e-06 2:86047242 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 missense_variant 6.45712 0.99433 0.98909 0.706548 0.984334047120425 0 0.999861745940553 TRUE 8.12466e-06 ENSE00000767839_015 ENSE00000767839 015 2 86274258 86274427 - 30 99 41 A G 86274404 2029 24 GTAAAGCTGCCAACCCGCCTCTGCACATACCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCCTGCAGATTAAATCAGCGCAGTGGTCAGTGACTTCACCTTC 86047134 86047304 86047280 86047281 86047281 upstr_intron -18 -0.414634146341463 GAAGGTGAAGTCACTGACCACTGCGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC mutant NA NA NA NA NA 1059 208 0.999259299517869 0.996430099712901 0.997844699615385 1 0.994634269858719 0.925832891357961 0.989486468020933 NA NA 0.0734264081599084 0.00694363169196832 0.99731713492936 0.957659679689447 NA 0.0401850199259384 NA FALSE NA 0.003 1.449 . intron_variant MODIFIER POLR1A HGNC 17264 ENST00000409681 18/33 1 NA CAC A,G 8.27e-06 2:86047281 POLR1A HGNC Symbol protein_coding 85939 ENSG00000068654 ENSE00000767839 intron_variant 0.587156 0.23607 0.16454 0.091178 0.838363863912832 0.201261 0.999861745940553 TRUE 8.18257e-06 ENSE00000767839_BRK ENSE00000767839 BRK 2 86274258 86274427 - 30 99 41 A,G; T,T NA NA NA GTAAAGCTGCCAACCCGCCTCTGCACATGGCTGCATCGTGTTCACAGTTGAACCTTTGGCTCCCGACTGCACCATCATCTGCAGGCTGTTCTCTGGGAACTGTCTGTGTAGGCCAAAAGGCATGCATGCAAGCAGATTAAATCAGCACAGTGGTCAGTGACTTCACCTTC 86047134 86047304 NA NA NA NA NA NA GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCTTGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGCCATGTGCAGAGGCGGGTTGGCAGCTTTAC GAAGGTGAAGTCACTGACCACTGTGCTGATTTAATCTGCAGGCATGCATGCCTTTTGGCCTACACAGACAGTTCCCAGAGAACAGCCTGCAGATGATGGTGCAGTCGGGAGCCAAAGGTTCAACTGTGAACACGATGCAGGTATGTGCAGAGGCGGGTTGGCAGCTTTAC control 166 114 0 0 0 NA NA NA NA NA 1 0.994634269858719 0.925832891357961 0.989486468020933 -1 -0.994634269858719 NA NA 0.99731713492936 0.957659679689447 -0.99731713492936 NA NA NA TRUE NA NA NA NA NA POLR1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR1A NA NA NA ENSG00000068654 ENSE00000767839 NA NA NA NA NA NA NA 0.999861745940553 TRUE NA ENSE00000768107_000 ENSE00000768107 000 3 48802395 48802564 - 42 75 53 NA NA NA NA NA TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 NA NA NA NA NA NA TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC natural NA NA NA NA NA 2458 6058 0.913762571458233 0.910310564659375 0.912036568058804 NA NA 0.913762571458233 0.910310564659375 NA NA 0 0 NA 0.912036568058804 NA 0 NA FALSE NA NA NA NA NA NA PRKAR2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKAR2A NA NA NA ENSG00000114302 ENSE00000768107 NA NA NA NA NA NA NA 0.983250575891508 TRUE NA ENSE00000768107_001 ENSE00000768107 001 3 48802395 48802564 - 42 75 53 A C 48802414 1064 151 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCGCCTTTCCTGGAAGTCACCC 48764961 48765131 48764980 48764981 48764981 downstr_intron 23 1.5609756097561 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCGCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 443 64 1 1 1 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0862374285417672 0.0896894353406248 NA 0.912036568058804 NA 0.087963431941196 NA FALSE NA 0 -0.447 . intron_variant MODIFIER PRKAR2A HGNC 9391 ENST00000296446 8/9 1 NA GAG A,C 8.237e-06 3:48764981 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 intron_variant 0.206882 0.20289 0.08703 0.295142 0.605717403427523 0.0870264 0.983250575891508 TRUE 4.0867e-06 ENSE00000768107_006 ENSE00000768107 006 3 48802395 48802564 - 42 75 53 C T 48802450 1069 115 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACACATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765016 48765017 48765017 exon -14 0.826666666666667 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACACATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 374 24 0.990395617273981 0.993352394273643 0.991874005773812 NA NA 0.913762571458233 0.910310564659375 NA NA 0.076633045815748 0.0830418296142676 NA 0.912036568058804 NA 0.0798374377150078 NA FALSE NA 0.993 2.856 . missense_variant MODERATE PRKAR2A HGNC 9391 ENST00000296446 8/10 1 tolerated(0.53) probably_damaging(0.941) NA GCG C,T 4.118e-05 3:48765017 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 missense_variant 5.857666 0.98843 0.95644 0.706298 0.997171152080087 0 0.983250575891508 TRUE 2.44043e-05 ENSE00000768107_008 ENSE00000768107 008 3 48802395 48802564 - 42 75 53 T C 48802465 1071 100 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTGTAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765031 48765032 48765032 exon -29 0.626666666666667 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTGTAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 204 42 1 1 1 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0862374285417672 0.0896894353406248 NA 0.912036568058804 NA 0.087963431941196 NA FALSE NA 1 4.665 rs144069299 missense_variant MODERATE PRKAR2A HGNC 9391 ENST00000296446 8/10 rs2230509&COSM1559686 1 deleterious(0) probably_damaging(0.996) C:0.0010 C:0 C:0 NA C:0 C:0.004 C:0.001 C:0.0002 C:0.0022 ATA T,C 0.001408 3:48765032 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 missense_variant 5.547597 0.97985 0.94851 0.706298 0.997994833975655 0 0.983250575891508 TRUE 0.00127301 ENSE00000768107_009 ENSE00000768107 009 3 48802395 48802564 - 42 75 53 T C 48802469 1072 96 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGGTCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765035 48765036 48765036 exon -33 0.573333333333333 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGGTCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 81 117 1 0.977335978497203 0.988667989248601 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0862374285417672 0.0670254138378278 NA 0.912036568058804 NA 0.0766314211897975 NA FALSE NA 0 -0.846 . missense_variant MODERATE PRKAR2A HGNC 9391 ENST00000296446 8/10 1 tolerated(0.87) benign(0.002) NA ATC T,C 8.237e-06 3:48765036 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 missense_variant -0.43573 0.18885 0.03294 0.706298 0.57853306985114 0 0.983250575891508 TRUE 4.06755e-06 ENSE00000768107_010 ENSE00000768107 010 3 48802395 48802564 - 42 75 53 A G 48802485 1073 80 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGACGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765051 48765052 48765052 exon 27 0.36 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGACGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 201 303 1 0.99769259487233 0.998846297436165 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0862374285417672 0.0873820302129551 NA 0.912036568058804 NA 0.0868097293773611 NA FALSE NA 1 1.892 . synonymous_variant LOW PRKAR2A HGNC 9391 ENST00000296446 8/10 rs530241045 1 G:0.0004 G:0 G:0.0029 NA G:0 G:0 G:0 CAT A,G 1.647e-05 3:48765052 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 synonymous_variant 0.522922 0.97006 0.90885 0.706298 0.60895849727194 0 0.983250575891508 TRUE 2.03426e-05 ENSE00000768107_011 ENSE00000768107 011 3 48802395 48802564 - 42 75 53 A G 48802492 1074 73 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGACTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765058 48765059 48765059 exon 20 0.266666666666667 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGACTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 186 110 1 1 1 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0862374285417672 0.0896894353406248 NA 0.912036568058804 NA 0.087963431941196 NA FALSE NA 1 8.763 . missense_variant MODERATE PRKAR2A HGNC 9391 ENST00000296446 8/10 1 deleterious(0.05) possibly_damaging(0.821) NA AAT A,G 8.237e-06 3:48765059 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 missense_variant 6.331518 0.99135 0.9935 0.706298 0.997782360205629 0 0.983250575891508 TRUE 1.22073e-05 ENSE00000768107_013 ENSE00000768107 013 3 48802395 48802564 - 42 75 53 T C 48802503 1076 62 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAGCGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765069 48765070 48765070 exon 9 0.12 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAGCGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 2779 353 0.998224316576934 0.999551712807495 0.998888014692215 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0844617451187014 0.0892411481481197 NA 0.912036568058804 NA 0.0868514466334105 NA FALSE NA 0.998 1.142 . synonymous_variant LOW PRKAR2A HGNC 9391 ENST00000296446 8/10 1 NA GTT T,C 3.295e-05 3:48765070 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 synonymous_variant 0.147797 0.97226 0.64679 0.706298 0.679426416071537 0 0.983250575891508 TRUE 4.06964e-05 ENSE00000768107_014 ENSE00000768107 014 3 48802395 48802564 - 42 75 53 G A 48802514 1077 51 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTTAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765080 48765081 48765081 upstr_intron -3 -0.0377358490566038 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTTAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 111 2776 0.981752077355949 0.996510454830463 0.989131266093206 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0679895058977159 0.0861998901710878 NA 0.912036568058804 NA 0.0770946980344018 NA FALSE NA 0.136 0.744 . splice_region_variant&intron_variant LOW PRKAR2A HGNC 9391 ENST00000296446 7/9 1 NA TGA G,A 8.236e-06 3:48765081 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 splice_region_variant 1.765312 0.9793 0.57083 0.099367 0.891309907059043 0.962822 0.983250575891508 TRUE 4.07116e-06 ENSE00000768107_015 ENSE00000768107 015 3 48802395 48802564 - 42 75 53 C T 48802529 1078 36 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTATGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765095 48765096 48765096 upstr_intron -18 -0.320754716981132 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTATGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 1048 839 0.998828156556105 0.999811452883918 0.999319804720011 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0850655850978724 0.0895008882245424 NA 0.912036568058804 NA 0.0872832366612074 NA FALSE NA 0 -1.145 . intron_variant MODIFIER PRKAR2A HGNC 9391 ENST00000296446 7/9 1 NA ACA C,T 1.647e-05 3:48765096 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 intron_variant -0.640285 0.15684 0.04444 0.099367 0.380446414228306 0.0862078 0.983250575891508 TRUE NA ENSE00000768107_016 ENSE00000768107 016 3 48802395 48802564 - 42 75 53 A C 48802531 1079 34 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATGTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765097 48765098 48765098 upstr_intron -20 -0.358490566037736 TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATGTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 454 27 0.998356846554993 1 0.999178423277497 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0845942750967605 0.0896894353406248 NA 0.912036568058804 NA 0.0871418552186927 NA FALSE NA 0 -0.228 . intron_variant MODIFIER PRKAR2A HGNC 9391 ENST00000296446 7/9 1 NA AAA A,C 8.236e-06 3:48765098 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 intron_variant -0.165122 0.16375 0.03876 0.099367 0.583778426907631 0.0862078 0.983250575891508 TRUE 4.07505e-06 ENSE00000768107_017 ENSE00000768107 017 3 48802395 48802564 - 42 75 53 A G 48802540 1080 25 TTGTGACTTTCAATTAAGGTCTTTCCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765106 48765107 48765107 upstr_intron -29 -0.528301886792453 TTGTGACTTTCAATTAAGGTCTTTCCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 197 337 1 1 1 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0862374285417672 0.0896894353406248 NA 0.912036568058804 NA 0.087963431941196 NA FALSE NA 0 -0.153 . intron_variant MODIFIER PRKAR2A HGNC 9391 ENST00000296446 7/9 1 NA GAA A,G 8.237e-06 3:48765107 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 intron_variant 1.368603 0.22141 0.12452 0.062308 0.756841754053857 0.0870264 0.983250575891508 TRUE 4.0823e-06 ENSE00000768107_018 ENSE00000768107 018 3 48802395 48802564 - 42 75 53 C T 48802546 1081 19 TTGTGACTTTCAATTAAGATCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765112 48765113 48765113 upstr_intron -35 -0.641509433962264 TTGTGACTTTCAATTAAGATCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 578 1965 0.954285907514222 0.995833720865964 0.975059814190093 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0405233360559888 0.0855231562065885 NA 0.912036568058804 NA 0.0630232461312886 NA FALSE NA 0 -1.236 . intron_variant MODIFIER PRKAR2A HGNC 9391 ENST00000296446 7/9 rs374974962 1 NA T:0.0002 T:0 ACC C,T 8.237e-06 3:48765113 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 intron_variant 0.926921 0.21163 0.0288 0.062308 0.638133022140786 0.0870264 0.983250575891508 TRUE 8.17896e-06 ENSE00000768107_020 ENSE00000768107 020 3 48802395 48802564 - 42 75 53 A C 48802551 1083 14 TTGTGACTTTCAAGTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC 48764961 48765131 48765117 48765118 48765118 upstr_intron -40 -0.735849056603774 TTGTGACTTTCAAGTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC TTGTGACTTTCAATTAAGGTCTTTTCCTTTTATTTGTGAATTTGTTGTTTCAGGTGTCAGAACGAATGAAGATTGTGGATGTAATAGGAGAGAAGATCTATAAGGATGGAGAACGCATAATCACTCAGGTGAGTGAGGGCTTTACGCAGCTCCTTTCCTGGAAGTCACCC mutant NA NA NA NA NA 443 1110 1 0.998021470716026 0.999010735358013 NA NA 0.913762571458233 0.910310564659375 NA NA 0.0862374285417672 0.0877109060566503 NA 0.912036568058804 NA 0.0869741672992088 NA FALSE NA 0.001 0.737 . intron_variant MODIFIER PRKAR2A HGNC 9391 ENST00000296446 7/9 rs369345597 1 NA C:0 C:0.0001 AAT A,C 8.237e-06 3:48765118 PRKAR2A HGNC Symbol protein_coding 103249 ENSG00000114302 ENSE00000768107 intron_variant 0.194975 0.26587 0.25856 0.062308 0.736508371810977 0.0862078 0.983250575891508 TRUE 8.19531e-06 ENSE00000768290_000 ENSE00000768290 000 1 40733411 40733580 + 47 87 36 NA NA NA NA NA GTTTCTAGTACTGTTCAACTGTGATCAAAGTATGCTTTGTTTTATAGCTTATTCTTCTCTTTGGAGGAATACCTTATCTCTGGAGACTTTCTGGACGGTTCTGTGGTTATGCTGGCTTTGGACCAGAATATGAGGTATGTGATTCATTAGCATGTATTTGTCATGGTATT 40267738 40267908 NA NA NA NA NA NA GTTTCTAGTACTGTTCAACTGTGATCAAAGTATGCTTTGTTTTATAGCTTATTCTTCTCTTTGGAGGAATACCTTATCTCTGGAGACTTTCTGGACGGTTCTGTGGTTATGCTGGCTTTGGACCAGAATATGAGGTATGTGATTCATTAGCATGTATTTGTCATGGTATT GTTTCTAGTACTGTTCAACTGTGATCAAAGTATGCTTTGTTTTATAGCTTATTCTTCTCTTTGGAGGAATACCTTATCTCTGGAGACTTTCTGGACGGTTCTGTGGTTATGCTGGCTTTGGACCAGAATATGAGGTATGTGATTCATTAGCATGTATTTGTCATGGTATT natural NA NA NA NA NA 1222 963 0.998328285921913 0.995677734880645 0.997003010401279 NA NA 0.998328285921913 0.995677734880645 NA NA 0 0 NA 0.997003010401279 NA 0 NA FALSE NA NA NA NA NA NA ZMPSTE24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMPSTE24 NA NA NA ENSG00000084073 ENSE00000768290 NA NA NA NA NA NA NA 1.25000649755402e-07 FALSE NA ENSE00000768290_005 ENSE00000768290 005 1 40733411 40733580 + 47 87 36 A T 40733461 1467 51 GTTTCTAGTACTGTTCAACTGTGATCAAAGTATGCTTTGTTTTATAGCTTTTTCTTCTCTTTGGAGGAATACCTTATCTCTGGAGACTTTCTGGACGGTTCTGTGGTTATGCTGGCTTTGGACCAGAATATGAGGTATGTGATTCATTAGCATGTATTTGTCATGGTATT 40267738 40267908 40267788 40267789 40267789 exon 4 0.0459770114942529 GTTTCTAGTACTGTTCAACTGTGATCAAAGTATGCTTTGTTTTATAGCTTTTTCTTCTCTTTGGAGGAATACCTTATCTCTGGAGACTTTCTGGACGGTTCTGTGGTTATGCTGGCTTTGGACCAGAATATGAGGTATGTGATTCATTAGCATGTATTTGTCATGGTATT GTTTCTAGTACTGTTCAACTGTGATCAAAGTATGCTTTGTTTTATAGCTTATTCTTCTCTTTGGAGGAATACCTTATCTCTGGAGACTTTCTGGACGGTTCTGTGGTTATGCTGGCTTTGGACCAGAATATGAGGTATGTGATTCATTAGCATGTATTTGTCATGGTATT mutant NA NA NA NA NA 231 127 1 0.936558829065313 0.968279414532657 NA NA 0.998328285921913 0.995677734880645 NA NA 0.00167171407808719 -0.0591189058153321 NA 0.997003010401279 NA -0.0287235958686224 NA FALSE NA 1 7.792 . downstream_gene_variant MODIFIER ZMPSTE24 HGNC 12877 ENST00000479131 1 NA TAT A,T 8.236e-06 1:40267789 ZMPSTE24 HGNC Symbol protein_coding 36077 ENSG00000084073 ENSE00000768290 missense_variant 3.10539 0.9522 0.96229 0.706548 0.964495958349943 0 1.25000649755402e-07 FALSE 4.06088e-06 ENSE00000768706_000 ENSE00000768706 000 3 50223030 50223199 + 69 42 59 NA NA NA NA NA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 NA NA NA NA NA NA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA natural 406 537 0.85 0.866056381709342 0.858028190854671 869 959 0.871935593263585 0.861423635289363 0.866679614276474 0.85 0.866056381709342 0.871935593263585 0.861423635289363 0 0 0 0 0.858028190854671 0.866679614276474 0 0 0 FALSE FALSE NA NA NA NA NA SEMA3F NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA3F NA NA NA ENSG00000001617 ENSE00000768706 NA NA NA NA NA NA NA 0.999917700468544 TRUE NA ENSE00000768706_001 ENSE00000768706 001 3 50223030 50223199 + 69 42 59 G A 50223048 1233 19 CCTGAGACCTCTAGGTCAAGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185614 50185615 50185615 upstr_intron -51 -0.72463768115942 CCTGAGACCTCTAGGTCAAGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 82 367 0.961376193811446 0.939083279967407 0.950229736889427 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.0894406005478611 0.0776596446780445 0.858028190854671 0.866679614276474 NA 0.0835501226129528 NA FALSE NA 0 0.073 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 13/17 1 NA AGG G,A 8.236e-06 3:50185615 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.612619 0.24572 0.04444 0.062308 0.699819281674194 0.15205 0.999917700468544 TRUE 4.06405e-06 ENSE00000768706_003 ENSE00000768706 003 3 50223030 50223199 + 69 42 59 G T 50223050 1235 21 CCTGAGACCTCTAGGTCAGGTCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185616 50185617 50185617 upstr_intron -49 -0.695652173913043 CCTGAGACCTCTAGGTCAGGTCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 93 169 0.865532739997892 0.961663266300542 0.913598003149217 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.00640285326569245 0.100239631011179 0.858028190854671 0.866679614276474 NA 0.0469183888727432 NA FALSE NA 0 -0.209 NA NA NA SEMA3F NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:50185617 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.258896 0.31165 0.19593 0.062308 0.761850673582215 0.15205 0.999917700468544 TRUE NA ENSE00000768706_004 ENSE00000768706 004 3 50223030 50223199 + 69 42 59 G T 50223054 1236 25 CCTGAGACCTCTAGGTCAGGGCAGTGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185620 50185621 50185621 upstr_intron -45 -0.63768115942029 CCTGAGACCTCTAGGTCAGGGCAGTGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 491 354 0.809983173129847 0.849572058684887 0.829777615907367 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.0619524201337377 -0.0118515766044756 0.858028190854671 0.866679614276474 NA -0.0369019983691066 NA FALSE NA 0.049 -0.092 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 13/17 1 NA GGG G,T 8.236e-06 3:50185621 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant -0.027568 0.22281 0.15006 0.062308 0.707073556634224 0.15205 0.999917700468544 TRUE 8.12625e-06 ENSE00000768706_005 ENSE00000768706 005 3 50223030 50223199 + 69 42 59 G T 50223061 1237 32 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGTTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185627 50185628 50185628 upstr_intron -38 -0.536231884057971 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGTTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 328 2094 0.956386256542259 0.960066769063455 0.958226512802857 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.0844506632786746 0.0986431337740925 0.858028190854671 0.866679614276474 NA 0.0915468985263835 NA FALSE NA 0 -1.216 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 13/17 1 NA GGT G,T 8.236e-06 3:50185628 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant -0.019766 0.14129 0.00864 0.062308 0.751005218984452 0.15205 0.999917700468544 TRUE 4.06296e-06 ENSE00000768706_006 ENSE00000768706 006 3 50223030 50223199 + 69 42 59 C T 50223064 1238 35 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCTCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185630 50185631 50185631 upstr_intron -35 -0.492753623188406 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCTCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 554 111 0.949151711371993 0.974366997704732 0.961759354538362 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.0772161181084078 0.11294336241537 0.858028190854671 0.866679614276474 NA 0.0950797402618887 NA FALSE NA 0.003 1.862 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 13/17 1 NA CCC C,T 8.236e-06 3:50185631 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.45241 0.2649 0.2466 0.062308 0.456556517225777 0.126419 0.999917700468544 TRUE NA ENSE00000768706_007 ENSE00000768706 007 3 50223030 50223199 + 69 42 59 C A 50223078 1239 49 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGATGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185644 50185645 50185645 upstr_intron -21 -0.289855072463768 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGATGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 621 299 0.675836311062582 0.8 0.737918155531291 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.196099282201003 -0.0614236352893628 0.858028190854671 0.866679614276474 NA -0.128761458745183 NA FALSE NA 0.012 0.019 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 13/17 rs369488495 1 NA A:0.0002 A:0 GCT C,A 8.236e-06 3:50185645 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.584454 0.27793 0.13102 0.062308 0.658324802125161 0.161427 0.999917700468544 TRUE 4.06154e-06 ENSE00000768706_008 ENSE00000768706 008 3 50223030 50223199 + 69 42 59 C G 50223089 1240 60 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATGTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185655 50185656 50185656 upstr_intron -10 -0.130434782608696 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATGTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 116 53 0.8 0.8 0.8 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.0719355932635848 -0.0614236352893628 0.858028190854671 0.866679614276474 NA -0.0666796142764738 NA FALSE NA 0 0.365 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 13/17 1 NA TCT C,G 8.236e-06 3:50185656 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.186956 0.25885 0.07085 0.062308 0.552894606315362 0.161427 0.999917700468544 TRUE 4.06114e-06 ENSE00000768706_009 ENSE00000768706 009 3 50223030 50223199 + 69 42 59 T C 50223094 1241 65 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTCCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185660 50185661 50185661 upstr_intron -5 -0.0579710144927536 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTCCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 126 141 0.867183384810765 0.817486552476 0.842334968643383 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.00475220845282021 -0.0439370828133625 0.858028190854671 0.866679614276474 NA -0.0243446456330914 NA FALSE NA 0.127 0.676 . splice_region_variant&intron_variant LOW SEMA3F HGNC 10728 ENST00000413852 13/17 rs371855885 1 NA C:0 C:0.0001 TTC T,C 4.942e-05 3:50185661 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 splice_region_variant 0.004998 0.28901 0.20509 0.069865 0.591269084290315 0.162947 0.999917700468544 TRUE 2.84273e-05 ENSE00000768706_010 ENSE00000768706 010 3 50223030 50223199 + 69 42 59 C G 50223095 1242 66 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTGTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185661 50185662 50185662 upstr_intron -4 -0.0434782608695652 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTGTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 10 115 0.95 0.78281678153597 0.866408390767985 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.0780644067364152 -0.0786068537533932 0.858028190854671 0.866679614276474 NA -0.00027122350848896 NA FALSE NA 0.037 1.66 . splice_region_variant&intron_variant LOW SEMA3F HGNC 10728 ENST00000413852 13/17 1 NA TCT C,G 8.236e-06 3:50185662 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 splice_region_variant 0.272274 0.29866 0.5586 0.295142 0.593416511175728 0.177767 0.999917700468544 TRUE 2.03054e-05 ENSE00000768706_011 ENSE00000768706 011 3 50223030 50223199 + 69 42 59 C T 50223113 1243 84 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTTAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185679 50185680 50185680 exon 15 0.357142857142857 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTTAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 15 41 0.8 0.806129269540781 0.803064634770391 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.0719355932635848 -0.0552943657485814 0.858028190854671 0.866679614276474 NA -0.0636149795060831 NA FALSE NA 0.094 -0.409 . synonymous_variant LOW SEMA3F HGNC 10728 ENST00000413852 14/18 rs372740024 1 NA T:0 T:0.0001 TCA C,T 8.236e-06 3:50185680 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 synonymous_variant 1.615524 0.96763 0.25423 0.706548 0.672889422150401 0 0.999917700468544 TRUE 4.06075e-06 ENSE00000768706_012 ENSE00000768706 012 3 50223030 50223199 + 69 42 59 A G 50223120 1244 91 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCGTGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185686 50185687 50185687 exon -21 0.523809523809524 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCGTGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 276 99 0.83980676396621 0.988947832157386 0.914377298061798 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.0321288292973753 0.127524196868023 0.858028190854671 0.866679614276474 NA 0.047697683785324 NA FALSE NA 1 3.503 . missense_variant MODERATE SEMA3F HGNC 10728 ENST00000413852 14/18 rs540657417 1 deleterious(0.01) possibly_damaging(0.482) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAT A,G 1.647e-05 3:50185687 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 missense_variant 5.054946 0.99377 0.95811 0.706548 0.994037768513682 0 0.999917700468544 TRUE 1.6243e-05 ENSE00000768706_016 ENSE00000768706 016 3 50223030 50223199 + 69 42 59 C T 50223153 1248 124 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGTGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185719 50185720 50185720 downstr_intron 13 1.22413793103448 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGTGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 78 14 0.9611432676699 0.95 0.95557163383495 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.0892076744063156 0.0885763647106372 0.858028190854671 0.866679614276474 NA 0.0888920195584764 NA FALSE NA 0 -1.062 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 14/17 rs377014999 1 NA T:0.0002 T:0 GCG C,T 1.647e-05 3:50185720 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.306646 0.21077 0.02444 0.099367 0.500893180497161 0.103875 0.999917700468544 TRUE 2.84285e-05 ENSE00000768706_017 ENSE00000768706 017 3 50223030 50223199 + 69 42 59 G A 50223154 1249 125 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCAAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185720 50185721 50185721 downstr_intron 14 1.24137931034483 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCAAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 1486 134 0.980454851698522 0.948837365179229 0.964646108438876 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.108519258434937 0.0874137298898662 0.858028190854671 0.866679614276474 NA 0.0979664941624017 NA FALSE NA 0 -2.212 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 14/17 1 NA CGA G,A 8.236e-06 3:50185721 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant -0.330136 0.15682 0.00641 0.099367 0.619781418854469 0.167094 0.999917700468544 TRUE 4.06108e-06 ENSE00000768706_018 ENSE00000768706 018 3 50223030 50223199 + 69 42 59 A T 50223155 1250 126 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGTGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185721 50185722 50185722 downstr_intron 15 1.25862068965517 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGTGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 39 94 1 0.80307437417917 0.901537187089585 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.128064406736415 -0.058349261110193 0.858028190854671 0.866679614276474 NA 0.0348575728131111 NA FALSE NA 0 0.498 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 14/17 1 NA GAG A,T 1.647e-05 3:50185722 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant -0.045377 0.2376 0.16947 0.099367 0.664934941052616 0.167005 0.999917700468544 TRUE 1.21834e-05 ENSE00000768706_019 ENSE00000768706 019 3 50223030 50223199 + 69 42 59 G A 50223167 1251 138 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGATTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185733 50185734 50185734 downstr_intron 27 1.46551724137931 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGATTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 319 843 0.979505317938726 0.980035030383666 0.979770174161196 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.107569724675141 0.118611395094303 0.858028190854671 0.866679614276474 NA 0.113090559884722 NA FALSE NA 0 0.297 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 14/17 1 NA GGT G,A 1.647e-05 3:50185734 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.180488 0.18013 0.16165 0.099367 0.438887984755777 0.114594 0.999917700468544 TRUE NA ENSE00000768706_020 ENSE00000768706 020 3 50223030 50223199 + 69 42 59 T G 50223169 1252 140 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTGGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185735 50185736 50185736 downstr_intron 29 1.5 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTGGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 570 139 0.850824417876153 0.947999782119918 0.899412099998036 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.0211111753874313 0.0865761468305555 0.858028190854671 0.866679614276474 NA 0.0327324857215621 NA FALSE NA 0 -0.05 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 14/17 1 NA TTG T,G 1.647e-05 3:50185736 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.340309 0.14359 0.07335 0.099367 0.458142949821141 0.115876 0.999917700468544 TRUE 1.62443e-05 ENSE00000768706_022 ENSE00000768706 022 3 50223030 50223199 + 69 42 59 A G 50223176 1254 147 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACGGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 50185742 50185743 50185743 downstr_intron 36 1.62068965517241 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACGGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 765 104 0.846279823103401 0.994315207920141 0.920297515511771 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA -0.0256557701601838 0.132891572630778 0.858028190854671 0.866679614276474 NA 0.0536179012352972 NA FALSE NA 0 0.146 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 14/17 1 NA CAG A,G 8.236e-06 3:50185743 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.103344 0.12181 0.00085 0.099367 0.647197672386843 0.115876 0.999917700468544 TRUE NA ENSE00000768706_023 ENSE00000768706 023 3 50223030 50223199 + 69 42 59 G T 50223183 1255 154 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTTCATCCCCTCAGGGTCA 50185596 50185766 50185749 50185750 50185750 downstr_intron 43 1.74137931034483 CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTTCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA mutant NA NA NA NA NA 260 1244 0.977194113586159 0.850387260790521 0.91379068718834 0.85 0.866056381709342 0.871935593263585 0.861423635289363 NA NA 0.105258520322575 -0.0110363744988418 0.858028190854671 0.866679614276474 NA 0.0471110729118664 NA FALSE NA 0 -0.276 . intron_variant MODIFIER SEMA3F HGNC 10728 ENST00000413852 14/17 rs373521433 1 NA T:0.0002 T:0 TGC G,T 8.236e-06 3:50185750 SEMA3F HGNC Symbol protein_coding 34030 ENSG00000001617 ENSE00000768706 intron_variant 0.23285 0.20441 0.15103 0.099367 0.799032790326043 0.0938118 0.999917700468544 TRUE 4.0618e-06 ENSE00000768706_BRK ENSE00000768706 BRK 3 50223030 50223199 + 69 42 59 A,G; T,T NA NA NA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTTTGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGCCAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA 50185596 50185766 NA NA NA NA NA NA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTTTGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGCCAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA CCTGAGACCTCTAGGTCAGGGCAGGGAGGGGGTCCCTGGCATCCCAAGCTGATCTTTATCTTTTTCTAGGATCCAGCACCCGTCAAGACCATGACCATCTCTTCTAAGAGGGTAAGCCTTTGGCGAGGTGAGCCAAGGTTGGGGACAGGGCCTGCATCCCCTCAGGGTCA control 16 51 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.866056381709342 0.871935593263585 0.861423635289363 -1.11022302462516e-16 -0.0160563817093415 NA NA 0.858028190854671 0.866679614276474 -0.00802819085467082 NA NA NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA3F NA NA NA ENSG00000001617 ENSE00000768706 NA NA NA NA NA NA NA 0.999917700468544 TRUE NA ENSE00000768863_000 ENSE00000768863 000 3 50356352 50356521 - 35 90 45 NA NA NA NA NA CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 NA NA NA NA NA NA CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT natural NA NA NA NA NA 674 832 0.954515170460112 0.927350800610947 0.94093298553553 NA NA 0.954515170460112 0.927350800610947 NA NA 0 0 NA 0.94093298553553 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HYAL2 NA NA NA ENSG00000068001 ENSE00000768863 NA NA NA NA NA NA NA 0.0206315124398338 FALSE NA ENSE00000768863_001 ENSE00000768863 001 3 50356352 50356521 - 35 90 45 C T 50356364 1256 158 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAAAGCTCAGTCTAT 50318920 50319090 50318932 50318933 50318933 downstr_intron 23 1.67647058823529 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAAAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 240 80 0.987153045247465 1 0.993576522623732 NA NA 0.954515170460112 0.927350800610947 NA NA 0.0326378747873528 0.0726491993890527 NA 0.94093298553553 NA 0.0526435370882027 NA FALSE NA 0 -0.079 NA NA NA HYAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:50318933 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 non_coding_transcript_exon_variant 0.431526 0.19932 0.16952 0.156188 0.589158916062616 0.126689 0.0206315124398338 FALSE 1.62754e-05 ENSE00000768863_003 ENSE00000768863 003 3 50356352 50356521 - 35 90 45 C T 50356368 1258 154 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTACCAGAGCTCAGTCTAT 50318920 50319090 50318936 50318937 50318937 downstr_intron 19 1.55882352941176 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTACCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 108 107 0.978340258821443 0.998158566442369 0.988249412631906 NA NA 0.954515170460112 0.927350800610947 NA NA 0.0238250883613306 0.0708077658314213 NA 0.94093298553553 NA 0.047316427096376 NA FALSE NA 0 0.032 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA GCA C,T 1.647e-05 3:50318937 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 non_coding_transcript_exon_variant 0.499533 0.18644 0.06666 0.156188 0.678877554978533 0.126689 0.0206315124398338 FALSE 8.13769e-06 ENSE00000768863_006 ENSE00000768863 006 3 50356352 50356521 - 35 90 45 T G 50356373 1261 149 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCCGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318941 50318942 50318942 downstr_intron 14 1.41176470588235 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCCGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 13 1049 1 0.981268529481478 0.990634264740739 NA NA 0.954515170460112 0.927350800610947 NA NA 0.045484829539888 0.0539177288705303 NA 0.94093298553553 NA 0.0497012792052091 NA FALSE NA 0 -1.177 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CTG T,G 0.0001235 3:50318942 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 non_coding_transcript_exon_variant 1.452721 0.18888 0.13092 0.156188 0.713668522700083 0.13989 0.0206315124398338 FALSE 8.94913e-05 ENSE00000768863_007 ENSE00000768863 007 3 50356352 50356521 - 35 90 45 C T 50356380 1262 142 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCAAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318948 50318949 50318949 downstr_intron 7 1.20588235294118 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCAAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 30 18 1 0.981077010107039 0.990538505053519 NA NA 0.954515170460112 0.927350800610947 NA NA 0.045484829539888 0.0537262094960913 NA 0.94093298553553 NA 0.0496055195179896 NA FALSE NA 0.274 -0.114 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA TCG C,T 8.236e-06 3:50318949 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 splice_region_variant 1.556132 0.82167 0.11156 0.156188 0.838362577973693 0.32954 0.0206315124398338 FALSE 1.22013e-05 ENSE00000768863_008 ENSE00000768863 008 3 50356352 50356521 - 35 90 45 G A 50356381 1263 141 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGTGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318949 50318950 50318950 downstr_intron 6 1.17647058823529 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGTGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 281 235 0.996280122192067 0.99532209574461 0.995801108968339 NA NA 0.954515170460112 0.927350800610947 NA NA 0.0417649517319552 0.067971295133663 NA 0.94093298553553 NA 0.0548681234328091 NA FALSE NA 0.904 0.994 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CGC G,A 8.236e-06 3:50318950 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 splice_region_variant 1.261521 0.87087 0.28148 0.156188 0.861325005544937 0.32954 0.0206315124398338 FALSE 4.06765e-06 ENSE00000768863_009 ENSE00000768863 009 3 50356352 50356521 - 35 90 45 C T 50356387 1264 135 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACAGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318955 50318956 50318956 exon -1 1 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACAGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 168 247 0 0 0 NA NA 0.954515170460112 0.927350800610947 NA NA -0.954515170460112 -0.927350800610947 NA 0.94093298553553 NA -0.94093298553553 NA TRUE NA 0.789 1.192 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CCG C,T 2.471e-05 3:50318956 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 splice_region_variant 1.510434 0.80243 0.71061 0.722319 0.844685426413947 0 0.0206315124398338 FALSE 1.21998e-05 ENSE00000768863_012 ENSE00000768863 012 3 50356352 50356521 - 35 90 45 C T 50356405 1267 117 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCAGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318973 50318974 50318974 exon -19 0.8 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCAGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 38 263 0.853759902381268 0.95319750896643 0.903478705673849 NA NA 0.954515170460112 0.927350800610947 NA NA -0.100755268078844 0.0258467083554828 NA 0.94093298553553 NA -0.0374542798616806 NA FALSE NA 0 -2.592 NA NA NA HYAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:50318974 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 synonymous_variant 1.867828 0.32486 0.03806 0.722319 0.857003995866371 0 0.0206315124398338 FALSE 4.06689e-06 ENSE00000768863_013 ENSE00000768863 013 3 50356352 50356521 - 35 90 45 G A 50356406 1268 116 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGTGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318974 50318975 50318975 exon -20 0.788888888888889 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGTGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 51 152 0.953623797222985 0.969192261925685 0.961408029574335 NA NA 0.954515170460112 0.927350800610947 NA NA -0.000891373237127513 0.0418414613147373 NA 0.94093298553553 NA 0.0204750440388049 NA FALSE NA 0.514 1.68 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CGC G,A 8.236e-06 3:50318975 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 missense_variant 2.90006 0.95783 0.56446 0.722319 0.911722129596017 0 0.0206315124398338 FALSE 4.06726e-06 ENSE00000768863_014 ENSE00000768863 014 3 50356352 50356521 - 35 90 45 G A 50356408 1269 114 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGATGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318976 50318977 50318977 exon -22 0.766666666666667 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGATGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 195 39 0.968351875724728 0.926896819535321 0.947624347630024 NA NA 0.954515170460112 0.927350800610947 NA NA 0.0138367052646157 -0.000453981075626331 NA 0.94093298553553 NA 0.00669136209449467 NA FALSE NA 0.003 -0.536 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CGT G,A 1.647e-05 3:50318977 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 synonymous_variant 0.59303 0.81456 0.13041 0.722319 0.877884347597737 0 0.0206315124398338 FALSE 8.13498e-06 ENSE00000768863_015 ENSE00000768863 015 3 50356352 50356521 - 35 90 45 C T 50356413 1270 109 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGAGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318981 50318982 50318982 exon -27 0.711111111111111 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGAGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 490 44 0.989465168046785 0.995494840211351 0.992480004129068 NA NA 0.954515170460112 0.927350800610947 NA NA 0.0349499975866733 0.0681440396004035 NA 0.94093298553553 NA 0.0515470185935384 NA FALSE NA 1 6.584 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CCC C,T 8.236e-06 3:50318982 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 missense_variant 6.763841 0.96167 0.96221 0.722319 0.998534280532153 0 0.0206315124398338 FALSE 4.06749e-06 ENSE00000768863_016 ENSE00000768863 016 3 50356352 50356521 - 35 90 45 G A 50356419 1271 103 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCTTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50318987 50318988 50318988 exon -33 0.644444444444444 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCTTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 14 126 1 1 1 NA NA 0.954515170460112 0.927350800610947 NA NA 0.045484829539888 0.0726491993890527 NA 0.94093298553553 NA 0.0590670144644703 NA FALSE NA 1 1.093 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 COSM139459 1 NA AGG G,A 8.237e-06 3:50318988 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 missense_variant 1.551498 0.90054 0.72765 0.722319 0.960442723390285 0 0.0206315124398338 FALSE 4.06762e-06 ENSE00000768863_019 ENSE00000768863 019 3 50356352 50356521 - 35 90 45 G A 50356435 1274 87 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGTGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319003 50319004 50319004 exon 42 0.466666666666667 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGTGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 691 29 0.800610616803416 0.804985074786332 0.802797845794874 NA NA 0.954515170460112 0.927350800610947 NA NA -0.153904553656696 -0.122365725824615 NA 0.94093298553553 NA -0.138135139740656 NA FALSE NA 0.01 -1.274 rs140376758 downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CGC G,A 0.0003048 3:50319004 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 synonymous_variant 1.531724 0.17721 0.0676 0.722319 0.859489715558293 0 0.0206315124398338 FALSE 0.000297258 ENSE00000768863_020 ENSE00000768863 020 3 50356352 50356521 - 35 90 45 C T 50356444 1275 78 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCAGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319012 50319013 50319013 exon 33 0.366666666666667 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCAGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 134 15 0.997830147689598 1 0.998915073844799 NA NA 0.954515170460112 0.927350800610947 NA NA 0.0433149772294856 0.0726491993890527 NA 0.94093298553553 NA 0.0579820883092692 NA FALSE NA 0 -4.027 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CCG C,T 3.295e-05 3:50319013 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 synonymous_variant 2.666094 0.56839 0.07566 0.722319 0.87966796526986 0 0.0206315124398338 FALSE 6.52114e-05 ENSE00000768863_022 ENSE00000768863 022 3 50356352 50356521 - 35 90 45 G A 50356453 1277 69 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGTGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319021 50319022 50319022 exon 24 0.266666666666667 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGTGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 178 186 0.00771414617952975 0.00172437573879548 0.00471926095916262 NA NA 0.954515170460112 0.927350800610947 NA NA -0.946801024280582 -0.925626424872152 NA 0.94093298553553 NA -0.936213724576367 NA TRUE NA 0.435 -0.39 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA CGC G,A 8.237e-06 3:50319022 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 synonymous_variant 1.725233 0.87962 0.32869 0.722319 0.892883929098523 0 0.0206315124398338 FALSE NA ENSE00000768863_023 ENSE00000768863 023 3 50356352 50356521 - 35 90 45 A G 50356457 1278 65 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCACTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319025 50319026 50319026 exon 20 0.222222222222222 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCACTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 25 71 1 0.95 0.975 NA NA 0.954515170460112 0.927350800610947 NA NA 0.045484829539888 0.0226491993890526 NA 0.94093298553553 NA 0.0340670144644703 NA FALSE NA 1 7.889 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA AAT A,G 8.237e-06 3:50319026 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 missense_variant 6.413947 0.95495 0.9728 0.722319 0.997415285084835 0 0.0206315124398338 FALSE 4.0856e-06 ENSE00000768863_025 ENSE00000768863 025 3 50356352 50356521 - 35 90 45 G A 50356463 1280 59 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTTTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319031 50319032 50319032 exon 14 0.155555555555556 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTTTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 53 135 1 0.95 0.975 NA NA 0.954515170460112 0.927350800610947 NA NA 0.045484829539888 0.0226491993890526 NA 0.94093298553553 NA 0.0340670144644703 NA FALSE NA 1 3.654 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA AGA G,A 4.118e-05 3:50319032 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 missense_variant 5.427152 0.94402 0.92023 0.722319 0.997893624419731 0 0.0206315124398338 FALSE 3.26902e-05 ENSE00000768863_027 ENSE00000768863 027 3 50356352 50356521 - 35 90 45 T C 50356476 1282 46 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGGTGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319044 50319045 50319045 exon 1 0.0111111111111111 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGGTGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 297 455 0.989955471810276 1 0.994977735905138 NA NA 0.954515170460112 0.927350800610947 NA NA 0.0354403013501637 0.0726491993890527 NA 0.94093298553553 NA 0.0540447503696082 NA FALSE NA 0.902 0.217 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA ATC T,C 8.237e-06 3:50319045 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 missense_variant 1.141501 0.93324 0.46993 0.722319 0.832772623660718 0 0.0206315124398338 FALSE 1.23408e-05 ENSE00000768863_028 ENSE00000768863 028 3 50356352 50356521 - 35 90 45 T G 50356480 1283 42 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCCTAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319048 50319049 50319049 upstr_intron -4 -0.0666666666666667 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCCTAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 46 59 0.960184214624101 1 0.98009210731205 NA NA 0.954515170460112 0.927350800610947 NA NA 0.00566904416398861 0.0726491993890527 NA 0.94093298553553 NA 0.0391591217765206 NA FALSE NA 0.056 0.501 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA ATG T,G 8.237e-06 3:50319049 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 splice_region_variant 1.278325 0.87495 0.83411 0.088506 0.727374251286117 0.329813 0.0206315124398338 FALSE 4.13032e-06 ENSE00000768863_029 ENSE00000768863 029 3 50356352 50356521 - 35 90 45 C A 50356482 1284 40 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTTCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319050 50319051 50319051 upstr_intron -6 -0.111111111111111 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTTCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 1356 748 0.999543872179693 0.997723739608703 0.998633805894198 NA NA 0.954515170460112 0.927350800610947 NA NA 0.0450287017195807 0.0703729389977561 NA 0.94093298553553 NA 0.0577008203586684 NA FALSE NA 0 -1.765 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA GCA C,A 3.295e-05 3:50319051 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 splice_region_variant 0.144671 0.21233 0.12481 0.088506 0.728732406335875 0.239684 0.0206315124398338 FALSE 1.6564e-05 ENSE00000768863_030 ENSE00000768863 030 3 50356352 50356521 - 35 90 45 G A 50356485 1285 37 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTTCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319053 50319054 50319054 upstr_intron -9 -0.177777777777778 CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTTCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 156 37 1 1 1 NA NA 0.954515170460112 0.927350800610947 NA NA 0.045484829539888 0.0726491993890527 NA 0.94093298553553 NA 0.0590670144644703 NA FALSE NA 0.002 0.247 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA GGA G,A 8.237e-06 3:50319054 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 intron_variant 0.416284 0.2837 0.20764 0.088506 0.532176411187984 0.239684 0.0206315124398338 FALSE 2.08229e-05 ENSE00000768863_031 ENSE00000768863 031 3 50356352 50356521 - 35 90 45 G C 50356496 1286 26 CTGTGGTCTCAGTCTTCCCCAGTGAGCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 50319064 50319065 50319065 upstr_intron -20 -0.422222222222222 CTGTGGTCTCAGTCTTCCCCAGTGAGCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT mutant NA NA NA NA NA 507 55 0.00636349291564832 0.00587685342563594 0.00612017317064213 NA NA 0.954515170460112 0.927350800610947 NA NA -0.948151677544464 -0.921473947185311 NA 0.94093298553553 NA -0.934812812364888 NA TRUE NA 0.001 0.878 . downstream_gene_variant MODIFIER HYAL2 HGNC 5321 ENST00000426286 1 NA GGT G,C 8.237e-06 3:50319065 HYAL2 HGNC Symbol protein_coding 5116 ENSG00000068001 ENSE00000768863 intron_variant 0.077222 0.26363 0.35081 0.088506 0.601148958731932 0.179178 0.0206315124398338 FALSE 4.22583e-06 ENSE00000768863_BRK ENSE00000768863 BRK 3 50356352 50356521 - 35 90 45 A,G; T,T NA NA NA CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATTTATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGCCAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT 50318920 50319090 NA NA NA NA NA NA CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATTTATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGCCAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT CTGTGGTCTCAGTCTTCCCCAGTGACCATCCCTTTTCCTGCATAGATGGACCTCATCTCTACCATTGGCGAGAGTGCGGCCCTGGGCGCAGCTGGTGTCATCCTCTGGGGTGACGCGGGGTACACCACAAGCACGGTAAGCGAGACCCAGCCTGCCAGAGCTCAGTCTAT control NA NA NA NA NA 632 394 0.0101674060083954 0 0.00508370300419772 NA NA 0.954515170460112 0.927350800610947 NA NA -0.944347764451717 -0.927350800610947 NA 0.94093298553553 NA -0.935849282531332 NA TRUE NA NA NA NA NA NA HYAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HYAL2 NA NA NA ENSG00000068001 ENSE00000768863 NA NA NA NA NA NA NA 0.0206315124398338 FALSE NA ENSE00000769319_000 ENSE00000769319 000 3 50414856 50415025 - 42 75 53 NA NA NA NA NA GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT 50377424 50377594 NA NA NA NA NA NA GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT natural 126 109 0.827938078661595 0.866112885137443 0.847025481899519 20 58 0.747618594144005 0.833657359323273 0.790637976733639 0.827938078661595 0.866112885137443 0.747618594144005 0.833657359323273 0 0 0 0 0.847025481899519 0.790637976733639 0 0 0 FALSE FALSE NA NA NA NA NA CACNA2D2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D2 NA NA NA ENSG00000007402 ENSE00000769319 NA NA NA NA NA NA NA 0.999693296855458 TRUE NA ENSE00000769319_013 ENSE00000769319 013 3 50414856 50415025 - 42 75 53 G A 50414904 1320 122 GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAATTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT 50377424 50377594 50377472 50377473 50377473 exon -7 0.92 GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAATTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT mutant NA NA NA NA NA 20 128 0.950560906712682 1 0.975280453356341 0.827938078661595 0.866112885137443 0.747618594144005 0.833657359323273 NA NA 0.202942312568677 0.166342640676727 0.847025481899519 0.790637976733639 NA 0.184642476622702 NA FALSE NA 0.999 1.521 . synonymous_variant LOW CACNA2D2 HGNC 1400 ENST00000360963 17/38 rs200816734 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGT G,A 0.0002967 3:50377473 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769319 synonymous_variant 0.810088 0.96866 0.90195 0.695654 0.682350959496677 0 0.999693296855458 TRUE 0.000269028 ENSE00000769319_016 ENSE00000769319 016 3 50414856 50415025 - 42 75 53 G A 50414910 1323 116 GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACTCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT 50377424 50377594 50377478 50377479 50377479 exon -13 0.84 GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACTCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT mutant NA NA NA NA NA 215 28 0.811184064440754 0.8 0.805592032220377 0.827938078661595 0.866112885137443 0.747618594144005 0.833657359323273 NA NA 0.063565470296749 -0.0336573593232729 0.847025481899519 0.790637976733639 NA 0.0149540554867381 NA FALSE NA 0 -1.678 . synonymous_variant LOW CACNA2D2 HGNC 1400 ENST00000360963 17/38 rs375331798 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0 A:0.0002 GGG G,A 0.0001731 3:50377479 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769319 synonymous_variant 0.979243 0.57594 0.01927 0.695654 0.714029534762942 0 0.999693296855458 TRUE 0.000130403 ENSE00000769319_030 ENSE00000769319 030 3 50414856 50415025 - 42 75 53 G T 50414994 1337 32 GGTTCCCCATGGAATTGAGCTCACTGAGGAGACCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT 50377424 50377594 50377562 50377563 50377563 upstr_intron -22 -0.39622641509434 GGTTCCCCATGGAATTGAGCTCACTGAGGAGACCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT GGTTCCCCATGGAATTGAGCTCACTGAGGAGCCCCCCATGCTTCTGCTCCCAGAACCAGCTGATCCTGGGCGTGATGGGCATTGACGTGGCTCTGAATGACATCAAGAGGCTGACCCCCAACTACACGGTGAGCATCCCCCTGCCCATCCGCGTACCCTGCCTCCCATGT mutant NA NA NA NA NA 261 62 0.984523238583553 0.987026928120596 0.985775083352075 0.827938078661595 0.866112885137443 0.747618594144005 0.833657359323273 NA NA 0.236904644439548 0.153369568797323 0.847025481899519 0.790637976733639 NA 0.195137106618436 NA FALSE NA 0 -0.079 NA NA NA CACNA2D2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:50377563 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769319 intron_variant 0.055929 0.22316 0.01755 0.056701 0.738502438986886 0.0476928 0.999693296855458 TRUE 2.44515e-05 ENSE00000769333_000 ENSE00000769333 000 3 50431490 50431659 - 50 60 60 NA NA NA NA NA CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 NA NA NA NA NA NA GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG natural 69 60 0.996889722162599 0.99065312688642 0.993771424524509 1189 1877 0.985418268671168 0.973727461805295 0.979572865238232 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 0 0 0 0 0.993771424524509 0.979572865238232 0 0 0 FALSE FALSE NA NA NA NA NA CACNA2D2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D2 NA NA NA ENSG00000007402 ENSE00000769333 NA NA NA NA NA NA NA 0.999693296855458 TRUE NA ENSE00000769333_001 ENSE00000769333 001 3 50431490 50431659 - 50 60 60 G C 50431500 1341 160 CGCATGGATGCGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394068 50394069 50394069 downstr_intron 40 1.81632653061224 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCGCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 154 620 0.990144392431912 0.956980728132998 0.973562560282455 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.00472612376074444 -0.0167467336722971 0.993771424524509 0.979572865238232 NA -0.00601030495577631 NA FALSE NA 0.082 -0.157 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 4/37 rs575855941 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GGG G,C 4.118e-05 3:50394069 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant -0.028411 0.15205 0.03437 0.053691 0.615811672614148 0.0715842 0.999693296855458 TRUE 2.04237e-05 ENSE00000769333_002 ENSE00000769333 002 3 50431490 50431659 - 50 60 60 T C 50431504 1342 156 CGCATGGATGGGCACGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394072 50394073 50394073 downstr_intron 36 1.73469387755102 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCGTGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 22 694 0.955361488669938 0.99675468711331 0.976058087891624 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA -0.0300567800012296 0.0230272253080146 0.993771424524509 0.979572865238232 NA -0.00351477734660749 NA FALSE NA 0 -0.269 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 4/37 rs368103842 1 NA C:0 C:0.0001 ATG T,C 8.236e-06 3:50394073 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 0.241787 0.15471 0.00868 0.053691 0.704809739075192 0.0715842 0.999693296855458 TRUE 4.07784e-06 ENSE00000769333_003 ENSE00000769333 003 3 50431490 50431659 - 50 60 60 T C 50431516 1343 144 CGCATGGATGGGCATGCCCTAAGTGCCGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394084 50394085 50394085 downstr_intron 24 1.48979591836735 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCGGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 281 229 0.983843611271666 0.812051288587512 0.897947449929589 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA -0.0015746573995018 -0.161676173217783 0.993771424524509 0.979572865238232 NA -0.0816254153086424 NA FALSE NA 0.001 0.185 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 4/37 1 NA CTG T,C 1.647e-05 3:50394085 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant -0.026758 0.1438 0.02662 0.053691 0.332261599789383 0.0715842 0.999693296855458 TRUE 1.22025e-05 ENSE00000769333_005 ENSE00000769333 005 3 50431490 50431659 - 50 60 60 G A 50431524 1345 136 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGATGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394092 50394093 50394093 downstr_intron 16 1.3265306122449 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCATCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 111 172 0.995848965348908 0.993508317546348 0.994678641447628 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.0104306966777398 0.0197808557410531 0.993771424524509 0.979572865238232 NA 0.0151057762093965 NA FALSE NA 0.001 -0.023 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 4/37 1 NA GGT G,A 8.237e-06 3:50394093 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant -0.151389 0.1422 0.01786 0.053691 0.421286530736176 0.121998 0.999693296855458 TRUE NA ENSE00000769333_006 ENSE00000769333 006 3 50431490 50431659 - 50 60 60 T C 50431537 1346 123 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCCACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394105 50394106 50394106 downstr_intron 3 1.06122448979592 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTGGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 449 18 1 0.8 0.9 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 -0.173727461805295 0.993771424524509 0.979572865238232 NA -0.0795728652382315 NA FALSE NA 1 0.804 . splice_region_variant&intron_variant LOW CACNA2D2 HGNC 1400 ENST00000360963 4/37 1 NA CTA T,C 8.236e-06 3:50394106 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 splice_region_variant 1.346067 0.95795 0.74471 0.078448 0.83573004992696 0.528229 0.999693296855458 TRUE 4.06233e-06 ENSE00000769333_007 ENSE00000769333 007 3 50431490 50431659 - 50 60 60 A C 50431544 1347 116 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGCTGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394112 50394113 50394113 exon -5 0.933333333333333 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACAGCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 1349 873 0.998637998394641 0.995839998545935 0.997238998470288 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.0132197297234727 0.02211253674064 0.993771424524509 0.979572865238232 NA 0.0176661332320563 NA FALSE NA 1 6.755 . missense_variant MODERATE CACNA2D2 HGNC 1400 ENST00000360963 4/38 1 tolerated(0.3) possibly_damaging(0.498) NA GAT A,C 8.236e-06 3:50394113 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 missense_variant 4.572332 0.98478 0.9799 0.706298 0.982684763894667 0 0.999693296855458 TRUE 4.06197e-06 ENSE00000769333_008 ENSE00000769333 008 3 50431490 50431659 - 50 60 60 C T 50431552 1348 108 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCTTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394120 50394121 50394121 exon -13 0.8 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAAGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 162 328 1 1 1 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 0.026272538194705 0.993771424524509 0.979572865238232 NA 0.0204271347617685 NA FALSE NA 1 1.708 . synonymous_variant LOW CACNA2D2 HGNC 1400 ENST00000360963 4/38 1 NA CCT C,T 8.236e-06 3:50394121 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 synonymous_variant 1.662343 0.95923 0.77131 0.706298 0.605751164225448 0 0.999693296855458 TRUE 1.21852e-05 ENSE00000769333_010 ENSE00000769333 010 3 50431490 50431659 - 50 60 60 C T 50431559 1350 101 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGTGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394127 50394128 50394128 exon -20 0.683333333333333 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCACTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 122 179 0.991088127483449 0.998497718084809 0.994792922784129 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.00566985881228121 0.0247702562795137 0.993771424524509 0.979572865238232 NA 0.0152200575458974 NA FALSE NA 0.995 0.296 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:50394128 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 missense_variant 3.583597 0.95709 0.56052 0.706298 0.97034472124942 0 0.999693296855458 TRUE 2.8431e-05 ENSE00000769333_011 ENSE00000769333 011 3 50431490 50431659 - 50 60 60 C A 50431559 1351 101 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGAGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394127 50394128 50394128 exon -20 0.683333333333333 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCTCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 169 237 1 1 1 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 0.026272538194705 0.993771424524509 0.979572865238232 NA 0.0204271347617685 NA FALSE NA 0.995 0.296 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D2 NA NA NA ENSG00000007402 ENSE00000769333 missense_variant 3.472618 0.95803 0.64766 0.706298 0.982978063580485 0 0.999693296855458 TRUE 4.06157e-06 ENSE00000769333_013 ENSE00000769333 013 3 50431490 50431659 - 50 60 60 G T 50431560 1353 100 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCTGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394128 50394129 50394129 exon -21 0.666666666666667 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACAGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 426 1070 0.908497686387303 0.998370637751892 0.953434162069598 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA -0.076920582283865 0.0246431759465975 0.993771424524509 0.979572865238232 NA -0.0261387031686338 NA FALSE NA 1 7.124 NA NA NA CACNA2D2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:50394129 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 missense_variant 3.235134 0.98744 0.98009 0.706298 0.9880783865777 0 0.999693296855458 TRUE 1.21857e-05 ENSE00000769333_014 ENSE00000769333 014 3 50431490 50431659 - 50 60 60 T A 50431568 1354 92 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTATCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394136 50394137 50394137 exon -29 0.533333333333333 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGATAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 120 564 1 1 1 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 0.026272538194705 0.993771424524509 0.979572865238232 NA 0.0204271347617685 NA FALSE NA 1 4.187 . missense_variant MODERATE CACNA2D2 HGNC 1400 ENST00000360963 4/38 rs543280850 1 tolerated(0.1) probably_damaging(0.909) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TTT T,A 8.236e-06 3:50394137 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 missense_variant 5.203226 0.97511 0.93488 0.706298 0.991214377463386 0 0.999693296855458 TRUE 4.06161e-06 ENSE00000769333_015 ENSE00000769333 015 3 50431490 50431659 - 50 60 60 A G 50431574 1355 86 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGGAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394142 50394143 50394143 exon 26 0.433333333333333 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTCCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 409 166 0.883209845065922 0.955161897923633 0.919185871494778 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA -0.102208423605246 -0.0185655638816615 0.993771424524509 0.979572865238232 NA -0.0603869937434539 NA FALSE NA 1 6.755 . missense_variant MODERATE CACNA2D2 HGNC 1400 ENST00000360963 4/38 rs564823519 1 tolerated(0.18) possibly_damaging(0.577) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GAA A,G 1.647e-05 3:50394143 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 missense_variant 6.217537 0.98457 0.97855 0.706298 0.99817137529096 0 0.999693296855458 TRUE 1.21847e-05 ENSE00000769333_017 ENSE00000769333 017 3 50431490 50431659 - 50 60 60 G A 50431592 1357 68 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAACCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394160 50394161 50394161 exon 8 0.133333333333333 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGTTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 246 22 0.993075521049623 1 0.996537760524811 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.00765725237845494 0.026272538194705 0.993771424524509 0.979572865238232 NA 0.01696489528658 NA FALSE NA 1 7.124 rs35497591 missense_variant MODERATE CACNA2D2 HGNC 1400 ENST00000360963 4/38 rs35497591 1 tolerated(0.38) possibly_damaging(0.765) NA AGC G,A 2.471e-05 3:50394161 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 missense_variant 4.274991 0.98729 0.97693 0.706298 0.993397738506523 0 0.999693296855458 TRUE 2.03115e-05 ENSE00000769333_018 ENSE00000769333 018 3 50431490 50431659 - 50 60 60 G T 50431605 1358 55 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGTGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394173 50394174 50394174 upstr_intron -6 -0.0833333333333333 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCACTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 58 394 0.998572211179474 1 0.999286105589737 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.013153942508306 0.026272538194705 0.993771424524509 0.979572865238232 NA 0.0197132403515055 NA FALSE NA 0.995 1.316 . splice_region_variant&intron_variant LOW CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA GGG G,T 1.647e-05 3:50394174 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 splice_region_variant 1.318523 0.6979 0.79249 0.053691 0.805676271731116 0.436836 0.999693296855458 TRUE 8.12585e-06 ENSE00000769333_019 ENSE00000769333 019 3 50431490 50431659 - 50 60 60 G A 50431606 1359 54 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGAACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394174 50394175 50394175 upstr_intron -7 -0.1 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTTCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 816 154 1 0.998971644456631 0.999485822228316 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 0.0252441826513361 0.993771424524509 0.979572865238232 NA 0.0199129569900841 NA FALSE NA 0.971 1.276 rs186631992 splice_region_variant&intron_variant LOW CACNA2D2 HGNC 1400 ENST00000360963 3/37 rs186631992 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0018 A:0 GGA G,A 0.0001153 3:50394175 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 splice_region_variant 1.310225 0.49713 0.32896 0.053691 0.716899666450423 0.425994 0.999693296855458 TRUE 8.93851e-05 ENSE00000769333_020 ENSE00000769333 020 3 50431490 50431659 - 50 60 60 G A 50431612 1360 48 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAACACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394180 50394181 50394181 upstr_intron -13 -0.2 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGTTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 597 72 0.99958566270604 0.940784007838481 0.970184835272261 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.0141673940348723 -0.0329434539668139 0.993771424524509 0.979572865238232 NA -0.00938802996597077 NA FALSE NA 0.042 2.334 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA AGC G,A 2.471e-05 3:50394181 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 1.660266 0.23835 0.52378 0.053691 0.861145935217935 0.354755 0.999693296855458 TRUE 2.8449e-05 ENSE00000769333_021 ENSE00000769333 021 3 50431490 50431659 - 50 60 60 A G 50431616 1361 44 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACGGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394184 50394185 50394185 upstr_intron -17 -0.266666666666667 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCCGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 615 53 0.990181311251442 0.997004180566592 0.993592745909017 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.00476304258027371 0.0232767187612971 0.993771424524509 0.979572865238232 NA 0.0140198806707854 NA FALSE NA 0.205 2.628 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA CAG A,G 8.236e-06 3:50394185 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 1.352403 0.17579 0.02134 0.053691 0.828850432946537 0.293212 0.999693296855458 TRUE NA ENSE00000769333_022 ENSE00000769333 022 3 50431490 50431659 - 50 60 60 G A 50431619 1362 41 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGAAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394187 50394188 50394188 upstr_intron -20 -0.316666666666667 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTTCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 479 178 0.954387860913046 0.998271027251602 0.976329444082324 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA -0.0310304077581224 0.024543565446307 0.993771424524509 0.979572865238232 NA -0.0032434211559077 NA FALSE NA 0.007 0.692 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 rs370373554 1 NA A:0.0002 A:0 GGA G,A 9.06e-05 3:50394188 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 1.418769 0.18342 0.11076 0.053691 0.82957255380212 0.293212 0.999693296855458 TRUE 5.28477e-05 ENSE00000769333_023 ENSE00000769333 023 3 50431490 50431659 - 50 60 60 A C 50431620 1363 40 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGCGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394188 50394189 50394189 upstr_intron -21 -0.333333333333333 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCGCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 273 95 0.972066160273706 1 0.986033080136853 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA -0.0133521083974624 0.026272538194705 0.993771424524509 0.979572865238232 NA 0.00646021489862131 NA FALSE NA 0.001 -0.399 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA GAG A,C 8.236e-06 3:50394189 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 1.556725 0.20858 0.067 0.053691 0.823136427106251 0.293212 0.999693296855458 TRUE 8.13121e-06 ENSE00000769333_024 ENSE00000769333 024 3 50431490 50431659 - 50 60 60 G A 50431622 1364 38 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGATCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394190 50394191 50394191 upstr_intron -23 -0.366666666666667 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGATCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 561 85 1 1 1 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 0.026272538194705 0.993771424524509 0.979572865238232 NA 0.0204271347617685 NA FALSE NA 0.811 0.533 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA GGT G,A 8.236e-06 3:50394191 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 1.704478 0.13799 0.14014 0.053691 0.872025657566258 0.293212 0.999693296855458 TRUE 4.06633e-06 ENSE00000769333_025 ENSE00000769333 025 3 50431490 50431659 - 50 60 60 C G 50431624 1365 36 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTGAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394192 50394193 50394193 upstr_intron -25 -0.4 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTCACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 157 251 1 1 1 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 0.026272538194705 0.993771424524509 0.979572865238232 NA 0.0204271347617685 NA FALSE NA 0.923 0.608 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA TCA C,G 8.236e-06 3:50394193 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 2.168356 0.93371 0.60587 0.053691 0.728728547492387 0.8739 0.999693296855458 TRUE 4.06653e-06 ENSE00000769333_026 ENSE00000769333 026 3 50431490 50431659 - 50 60 60 A C 50431628 1366 32 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGACGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394196 50394197 50394197 upstr_intron -29 -0.466666666666667 GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCGTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 97 848 1 0.998613103529713 0.999306551764856 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 0.0248856417244177 0.993771424524509 0.979572865238232 NA 0.0197336865266248 NA FALSE NA 0.003 0.216 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA AAG A,C 8.236e-06 3:50394197 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant -0.154475 0.22392 0.03343 0.053691 0.593389900683929 0.156508 0.999693296855458 TRUE 4.06788e-06 ENSE00000769333_027 ENSE00000769333 027 3 50431490 50431659 - 50 60 60 C T 50431630 1367 30 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGTGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394198 50394199 50394199 upstr_intron -31 -0.5 GGTGGGCATAGGGCAGGCTGCCTTCCTCCACTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 679 96 0.997513881108768 0.998348989173095 0.997931435140932 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.0120956124376005 0.0246215273677997 0.993771424524509 0.979572865238232 NA 0.0183585699027001 NA FALSE NA 0 0.281 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA GCG C,T 8.236e-06 3:50394199 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 0.03114 0.10639 0.02127 0.053691 0.47669537065743 0.156508 0.999693296855458 TRUE 1.22134e-05 ENSE00000769333_028 ENSE00000769333 028 3 50431490 50431659 - 50 60 60 G A 50431631 1368 29 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCAGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394199 50394200 50394200 upstr_intron -32 -0.516666666666667 GGTGGGCATAGGGCAGGCTGCCTTCCTCTGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 400 17 1 0.814649732651063 0.907324866325532 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 -0.159077729154232 0.993771424524509 0.979572865238232 NA -0.0722479989127 NA FALSE NA 0 -1.149 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA CGG G,A 1.647e-05 3:50394200 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant -0.233081 0.11668 0.00774 0.053691 0.37074208848662 0.156508 0.999693296855458 TRUE 1.22143e-05 ENSE00000769333_029 ENSE00000769333 029 3 50431490 50431659 - 50 60 60 G A 50431635 1369 25 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGAAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394203 50394204 50394204 upstr_intron -36 -0.583333333333333 GGTGGGCATAGGGCAGGCTGCCTTTCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 1934 807 0.980298975970074 0.995954066149333 0.988126521059704 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA -0.00511929270109357 0.0222266043440377 0.993771424524509 0.979572865238232 NA 0.00855365582147205 NA FALSE NA 0.018 0.586 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA GGA G,A 8.236e-06 3:50394204 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 0.302609 0.18705 0.10888 0.053691 0.488705598571956 0.156508 0.999693296855458 TRUE 8.14491e-06 ENSE00000769333_030 ENSE00000769333 030 3 50431490 50431659 - 50 60 60 A C 50431636 1370 24 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGCAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 50394204 50394205 50394205 upstr_intron -37 -0.6 GGTGGGCATAGGGCAGGCTGCCTGCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 377 248 1 0.949906614245485 0.974953307122743 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.014581731328832 -0.02382084755981 0.993771424524509 0.979572865238232 NA -0.00461955811548898 NA FALSE NA 0 -1.131 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA GAA A,C 8.236e-06 3:50394205 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant -0.167907 0.07747 0.01403 0.053691 0.561546127941008 0.156508 0.999693296855458 TRUE 4.07355e-06 ENSE00000769333_031 ENSE00000769333 031 3 50431490 50431659 - 50 60 60 G A 50431642 1371 18 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAACCTGCCCTATGCCCACC 50394058 50394228 50394210 50394211 50394211 upstr_intron -43 -0.7 GGTGGGCATAGGGCAGGTTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 504 38 0.99942701902265 0.998992174066779 0.999209596544715 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.0140087503514823 0.0252647122614843 0.993771424524509 0.979572865238232 NA 0.0196367313064833 NA FALSE NA 0.001 0.061 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA AGC G,A 8.236e-06 3:50394211 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 0.402432 0.15706 0.02406 0.053691 0.673426943942284 0.156508 0.999693296855458 TRUE NA ENSE00000769333_032 ENSE00000769333 032 3 50431490 50431659 - 50 60 60 C T 50431644 1372 16 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCTTGCCCTATGCCCACC 50394058 50394228 50394212 50394213 50394213 upstr_intron -45 -0.733333333333333 GGTGGGCATAGGGCAAGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 702 111 0.998906744185328 0.977725128569004 0.988315936377166 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.01348847551416 0.00399766676370938 0.993771424524509 0.979572865238232 NA 0.00874307113893469 NA FALSE NA 0 0.579 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA CCT C,T 1.647e-05 3:50394213 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 0.41416 0.17296 0.02246 0.053691 0.762977130412094 0.156508 0.999693296855458 TRUE 4.08827e-05 ENSE00000769333_033 ENSE00000769333 033 3 50431490 50431659 - 50 60 60 T C 50431645 1373 15 CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTACCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTCTGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCCGCCCTATGCCCACC 50394058 50394228 50394213 50394214 50394214 upstr_intron -46 -0.75 GGTGGGCATAGGGCGGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG mutant NA NA NA NA NA 1307 132 0.999187481437305 0.996764202126965 0.997975841782135 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 NA NA 0.0137692127661366 0.0230367403216697 0.993771424524509 0.979572865238232 NA 0.0184029765439032 NA FALSE NA 0 -0.391 . intron_variant MODIFIER CACNA2D2 HGNC 1400 ENST00000360963 3/37 1 NA CTG T,C 8.237e-06 3:50394214 CACNA2D2 HGNC Symbol protein_coding 141445 ENSG00000007402 ENSE00000769333 intron_variant 0.313304 0.13771 0.00832 0.053691 0.721876737276841 0.156508 0.999693296855458 TRUE 4.09088e-06 ENSE00000769333_BRK ENSE00000769333 BRK 3 50431490 50431659 - 50 60 60 A,G; T,T NA NA NA CGCATGGATGGGCATGCCCTAAGTGCTGGGCAGGGTGCTGGGGTTCCTGGCTTGATGTTGTCCTGCCAGCGGTGTGCTTTCTGGAAGTTCTCTGCAGCATCAGCCAGTCTAAGAGGGACAGAGCACAGGGAGGTCAGAAGCGGAGGAAGGCAGCCTGCCCTATGCCCACC 50394058 50394228 NA NA NA NA NA NA GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCTTAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGCCAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG GGTGGGCATAGGGCAGGCTGCCTTCCTCCGCTTCTGACCTCCCTGTGCTCTGTCCCTCAGAGACTGGCTGATGCTGCAGAGAACTTCCAGAAAGCACACCGCTGGCAGGACAACATCAAGGTAGGAACCCCAGCACCCTGCCCAGCACTTAGGGCATGCCCATCCATGCG control 177 352 0 0 0 204 12 0.841545890747407 0.8 0.820772945373704 0.996889722162599 0.99065312688642 0.985418268671168 0.973727461805295 -0.996889722162599 -0.99065312688642 -0.143872377923761 -0.173727461805295 0.993771424524509 0.979572865238232 -0.993771424524509 -0.158799919864528 0.834971504659981 FALSE TRUE NA NA NA NA NA CACNA2D2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D2 NA NA NA ENSG00000007402 ENSE00000769333 NA NA NA NA NA NA NA 0.999693296855458 TRUE NA ENSE00000770788_000 ENSE00000770788 000 3 52472877 52473046 - 59 42 69 NA NA NA NA NA GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 NA NA NA NA NA NA CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC natural 73 197 0.754310867702779 0.838753875442823 0.796532371572801 1354 1730 0.981026588060727 0.947258269534277 0.964142428797502 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 0 0 0 0 0.796532371572801 0.964142428797502 0 0 0 FALSE FALSE NA NA NA NA NA SEMA3G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA3G NA NA NA ENSG00000010319 ENSE00000770788 NA NA NA NA NA NA NA 6.07682770496396e-10 FALSE NA ENSE00000770788_001 ENSE00000770788 001 3 52472877 52473046 - 59 42 69 G A 52472889 1582 158 GGAGGCTGCGGAACAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438872 52438873 52438873 downstr_intron 47 1.81034482758621 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGTTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 287 162 0.970967918307155 0.988425474317437 0.979696696312296 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.0100586697535726 0.0411672047831607 0.796532371572801 0.964142428797502 NA 0.0155542675147941 NA FALSE NA 0.001 0.573 . intron_variant MODIFIER SEMA3G HGNC 30400 ENST00000231721 13/15 1 NA AGC G,A 8.237e-06 3:52438873 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant -0.027732 0.19702 0.0831 0.062308 0.326032936592901 0.0496878 6.07682770496396e-10 FALSE NA ENSE00000770788_002 ENSE00000770788 002 3 52472877 52473046 - 59 42 69 G T 52472902 1583 145 GGAGGCTGCGGAGCAGGGGCAGAAGTGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438885 52438886 52438886 downstr_intron 34 1.58620689655172 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCACTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 917 1270 0.996359680960993 0.976272227553241 0.986315954257117 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.0153330929002654 0.0290139580189639 0.796532371572801 0.964142428797502 NA 0.0221735254596147 NA FALSE NA 0 -2.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:52438886 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant -0.239351 0.19379 0.04026 0.099367 0.485661221940821 0.0497633 6.07682770496396e-10 FALSE 1.63998e-05 ENSE00000770788_003 ENSE00000770788 003 3 52472877 52473046 - 59 42 69 G A 52472902 1584 145 GGAGGCTGCGGAGCAGGGGCAGAAGAGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438885 52438886 52438886 downstr_intron 34 1.58620689655172 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCTCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 728 129 0.995578833060288 0.987598952205624 0.991588892632956 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.014552244999561 0.0403406826713474 0.796532371572801 0.964142428797502 NA 0.0274464638354542 NA FALSE NA 0 -2.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00000770788 intron_variant 0.037426 0.1709 0.01035 0.099367 0.435046479839113 0.0497633 0.00856580592851277 FALSE 1.22998e-05 ENSE00000770788_004 ENSE00000770788 004 3 52472877 52473046 - 59 42 69 G C 52472902 1585 145 GGAGGCTGCGGAGCAGGGGCAGAAGCGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438885 52438886 52438886 downstr_intron 34 1.58620689655172 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCGCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 791 558 0.972953928483606 0.976021784735019 0.974487856609312 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.00807265957712155 0.0287635152007419 0.796532371572801 0.964142428797502 NA 0.0103454278118102 NA FALSE NA 0 -2.348 NA NA NA SEMA3G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA3G NA NA NA ENSG00000010319 ENSE00000770788 intron_variant -0.359221 0.20841 0.00374 0.099367 0.442068798327009 0.0497633 6.07682770496396e-10 FALSE 2.45996e-05 ENSE00000770788_005 ENSE00000770788 005 3 52472877 52473046 - 59 42 69 G C 52472904 1586 143 GGAGGCTGCGGAGCAGGGGCAGAAGGGCGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438887 52438888 52438888 downstr_intron 32 1.55172413793103 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCGCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 109 316 0.981671275915241 1 0.99083563795762 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.000644687854513104 0.0527417304657234 0.796532371572801 0.964142428797502 NA 0.0266932091601182 NA FALSE NA 0.02 4.028 . intron_variant MODIFIER SEMA3G HGNC 30400 ENST00000231721 13/15 rs555962731 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 GGG G,C 2.471e-05 3:52438888 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant -0.133165 0.15881 0.40019 0.099367 0.32927107824582 0.0497633 6.07682770496396e-10 FALSE 1.63787e-05 ENSE00000770788_006 ENSE00000770788 006 3 52472877 52473046 - 59 42 69 G A 52472906 1587 141 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGATCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438889 52438890 52438890 downstr_intron 30 1.51724137931034 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGATCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 99 233 0.972062841767983 0.968504962485557 0.97028390212677 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.00896374629274466 0.0212466929512802 0.796532371572801 0.964142428797502 NA 0.00614147332926779 NA FALSE NA 0 -0.277 . intron_variant MODIFIER SEMA3G HGNC 30400 ENST00000231721 13/15 1 NA GGT G,A 1.647e-05 3:52438890 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant 0.167362 0.17062 0.00758 0.099367 0.349327751515154 0.0497633 6.07682770496396e-10 FALSE 8.1823e-06 ENSE00000770788_008 ENSE00000770788 008 3 52472877 52473046 - 59 42 69 C G 52472936 1589 111 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACGCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438919 52438920 52438920 exon -1 1 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGCGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 939 865 0.901088679977218 0.804803214496212 0.852945947236715 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.0799379080835095 -0.142455055038065 0.796532371572801 0.964142428797502 NA -0.111196481560787 NA FALSE NA 1 0.489 . missense_variant&splice_region_variant MODERATE SEMA3G HGNC 30400 ENST00000231721 13/16 1 deleterious(0.01) probably_damaging(0.992) NA CCC C,G 2.471e-05 3:52438920 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 missense_variant 6.944871 0.98739 0.92651 0.562547 0.997827123333829 0 6.07682770496396e-10 FALSE 2.03578e-05 ENSE00000770788_009 ENSE00000770788 009 3 52472877 52473046 - 59 42 69 A C 52472945 1590 102 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACCGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438928 52438929 52438929 exon -10 0.785714285714286 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCGGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 436 348 0.948934260697356 0.953300273190285 0.951117266943821 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.0320923273633711 0.00604200365600827 0.796532371572801 0.964142428797502 NA -0.0130251618536814 NA FALSE NA 0.008 -0.102 . synonymous_variant LOW SEMA3G HGNC 30400 ENST00000231721 13/16 1 NA CAG A,C 8.236e-06 3:52438929 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 synonymous_variant -0.218572 0.96607 0.47953 0.562547 0.768358153477741 0 6.07682770496396e-10 FALSE 4.0701e-06 ENSE00000770788_011 ENSE00000770788 011 3 52472877 52473046 - 59 42 69 C T 52472959 1592 88 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTTGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438942 52438943 52438943 exon 19 0.452380952380952 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCAAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 224 194 0.8 0.843654228534438 0.821827114267219 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.181026588060727 -0.103604040999838 0.796532371572801 0.964142428797502 NA -0.142315314530283 NA FALSE NA 0 0.154 . missense_variant MODERATE SEMA3G HGNC 30400 ENST00000231721 13/16 rs538568921&COSM3427741 1 deleterious(0.02) benign(0.228) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 8.236e-06 3:52438943 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 missense_variant 4.629913 0.97116 0.05871 0.562547 0.997382500317419 0 6.07682770496396e-10 FALSE 2.03505e-05 ENSE00000770788_013 ENSE00000770788 013 3 52472877 52473046 - 59 42 69 G T 52472968 1594 79 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGTTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438951 52438952 52438952 exon 10 0.238095238095238 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACAACTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 168 249 1 0.992477444346604 0.996238722173302 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.0189734119392726 0.0452191748123271 0.796532371572801 0.964142428797502 NA 0.0320962933757998 NA FALSE NA 1 3.982 rs147576494 missense_variant MODERATE SEMA3G HGNC 30400 ENST00000231721 13/16 rs147576494&COSM1047008 1 tolerated(0.05) possibly_damaging(0.895) NA T:0 T:0.0001 GGT G,T 1.647e-05 3:52438952 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 missense_variant 4.967194 0.97738 0.96931 0.562547 0.994435125605715 0 6.07682770496396e-10 FALSE 8.14107e-06 ENSE00000770788_014 ENSE00000770788 014 3 52472877 52473046 - 59 42 69 G A 52472970 1595 77 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTATTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438953 52438954 52438954 exon 8 0.19047619047619 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAATACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 1232 206 0.943653388305137 0.938940728383456 0.941297058344296 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.0373731997555908 -0.00831754115082073 0.796532371572801 0.964142428797502 NA -0.0228453704532058 NA FALSE NA 0.711 2.337 . missense_variant MODERATE SEMA3G HGNC 30400 ENST00000231721 13/16 1 deleterious(0.05) benign(0.068) NA TGT G,A 1.647e-05 3:52438954 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 missense_variant 4.012508 0.98036 0.64997 0.562547 0.995109599446242 0 6.07682770496396e-10 FALSE 1.22153e-05 ENSE00000770788_017 ENSE00000770788 017 3 52472877 52473046 - 59 42 69 G A 52472981 1598 66 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGAGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438964 52438965 52438965 upstr_intron -4 -0.0434782608695652 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCTCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 56 26 1 0.95 0.975 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.0189734119392726 0.00274173046572335 0.796532371572801 0.964142428797502 NA 0.010857571202498 NA FALSE NA 0 0.513 rs184021435 splice_region_variant&intron_variant LOW SEMA3G HGNC 30400 ENST00000231721 12/15 rs184021435 1 A:0.0016 A:0.0053 A:0.0014 NA A:0 A:0 A:0 A:0.0041 A:0 GGG G,A 0.0004365 3:52438965 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 splice_region_variant 1.674906 0.92722 0.61245 0.062308 0.790525300279898 0.463868 6.07682770496396e-10 FALSE 0.000379044 ENSE00000770788_018 ENSE00000770788 018 3 52472877 52473046 - 59 42 69 G A 52473002 1599 45 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTATGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438985 52438986 52438986 upstr_intron -25 -0.347826086956522 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCATACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 63 550 0.998023669907359 0.944341161302161 0.97118241560476 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.0169970818466321 -0.00291710823211566 0.796532371572801 0.964142428797502 NA 0.0070399868072582 NA FALSE NA 0 -3.088 . intron_variant MODIFIER SEMA3G HGNC 30400 ENST00000231721 12/15 1 NA TGT G,A 8.237e-06 3:52438986 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant 0.209948 0.14113 0.01654 0.062308 0.560037613220205 0.0863188 6.07682770496396e-10 FALSE 4.12014e-06 ENSE00000770788_019 ENSE00000770788 019 3 52472877 52473046 - 59 42 69 C T 52473008 1600 39 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTTGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438991 52438992 52438992 upstr_intron -31 -0.434782608695652 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCAACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 292 283 0.998153287759799 0.981543333688744 0.989848310724271 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.0171266996990711 0.0342850641544671 0.796532371572801 0.964142428797502 NA 0.0257058819267691 NA FALSE NA 0 -1.556 rs73837056 intron_variant MODIFIER SEMA3G HGNC 30400 ENST00000231721 12/15 rs73837056 1 T:0.0168 T:0.0605 T:0.0058 NA T:0 T:0 T:0 T:0.0393 T:0 TCG G,T 0.003855 3:52438992 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant 0.042082 0.0899 0.00078 0.062308 0.884529255740566 0.0863188 6.07682770496396e-10 FALSE 0.00309804 ENSE00000770788_020 ENSE00000770788 020 3 52472877 52473046 - 59 42 69 G T 52473009 1601 38 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCTGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52438992 52438993 52438993 upstr_intron -32 -0.449275362318841 CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCAGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 439 824 0.978317515685903 0.842539390809676 0.91042845324779 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.00270907237482432 -0.104718878724601 0.796532371572801 0.964142428797502 NA -0.0537139755497124 NA FALSE NA 0 0.066 NA NA NA SEMA3G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:52438993 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant -0.107998 0.23689 0.06818 0.062308 0.741517626776665 0.0863188 6.07682770496396e-10 FALSE 1.6654e-05 ENSE00000770788_024 ENSE00000770788 024 3 52472877 52473046 - 59 42 69 G A 52473020 1605 27 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAAACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 52439003 52439004 52439004 upstr_intron -43 -0.608695652173913 CTGAAAGCAGGGGTGCAGGGGCAGGTTTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 206 72 0.997373624659606 0.999469676027879 0.998421650343742 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.0163470365988787 0.0522114064936022 0.796532371572801 0.964142428797502 NA 0.0342792215462405 NA FALSE NA 0.009 1.123 . intron_variant MODIFIER SEMA3G HGNC 30400 ENST00000231721 12/15 1 NA AGA G,A 8.237e-06 3:52439004 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant 0.276229 0.23279 0.09554 0.062308 0.432636974752358 0.058248 6.07682770496396e-10 FALSE 1.27299e-05 ENSE00000770788_025 ENSE00000770788 025 3 52472877 52473046 - 59 42 69 C T 52473026 1606 21 GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTACCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACCTGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGTCCCTGCACCCCTGCTTTCAG 52438860 52439030 52439009 52439010 52439010 upstr_intron -49 -0.695652173913043 CTGAAAGCAGGGGTGCAGGGACAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC mutant NA NA NA NA NA 47 103 0.999121090215259 0.989357604961824 0.994239347588541 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA 0.0180945021545316 0.0420993354275474 0.796532371572801 0.964142428797502 NA 0.0300969187910395 NA FALSE NA 0 -0.737 . intron_variant MODIFIER SEMA3G HGNC 30400 ENST00000231721 12/15 1 NA GCC C,T 1.647e-05 3:52439010 SEMA3G HGNC Symbol protein_coding 12032 ENSG00000010319 ENSE00000770788 intron_variant 0.093595 0.20369 0.05696 0.062308 0.341588557891921 0.058248 6.07682770496396e-10 FALSE 1.7488e-05 ENSE00000770788_BRK ENSE00000770788 BRK 3 52472877 52473046 - 59 42 69 A,G; T,T NA NA NA GGAGGCTGCGGAGCAGGGGCAGAAGGGGGGTCCAAGAGGAGGGTGGCAGCTGTTCTTGGCCTTTTGACAGAGATCTCCATTTCGGTGATAGGTGTTGGCACAAGGGGAAGGAGAAGGGTCTCAGTGTGGGTCGGGTGGACCAAGACCTGCCCCTGCACCCCTGCTTTCAG 52438860 52439030 NA NA NA NA NA NA CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCTTGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGCCAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC CTGAAAGCAGGGGTGCAGGGGCAGGTCTTGGTCCACCCGACCCACACTGAGACCCTTCTCCTTCCCCAGGTGCCAACACCTATCACCGAAATGGAGATCTCTGTCAAAAGGGTAAGAACAGCTGCCACCCTCCTCTTGGACCCCCCTTCTGCCCCTGCTCCGCAGCCTCC control NA NA NA NA NA 419 103 0.0162752074557614 0 0.00813760372788069 0.754310867702779 0.838753875442823 0.981026588060727 0.947258269534277 NA NA -0.964751380604966 -0.947258269534277 0.796532371572801 0.964142428797502 NA -0.956004825069621 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA3G NA NA NA ENSG00000010319 ENSE00000770788 NA NA NA NA NA NA NA 6.07682770496396e-10 FALSE NA ENSE00000771126_000 ENSE00000771126 000 1 46081947 46082116 + 62 57 51 NA NA NA NA NA ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 NA NA NA NA NA NA ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC natural NA NA NA NA NA 1007 2057 0.99693596741668 0.998001355596644 0.997468661506662 NA NA 0.99693596741668 0.998001355596644 NA NA 0 0 NA 0.997468661506662 NA 0 NA FALSE NA NA NA NA NA NA NASP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NASP NA NA NA ENSG00000132780 ENSE00003677926 NA NA NA NA NA NA NA 0.470216299614197 FALSE NA ENSE00000771126_001 ENSE00000771126 001 1 46081947 46082116 + 62 57 51 C T 46081960 1750 14 ACAAGGCTGTGGGTGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616287 45616288 45616288 upstr_intron -49 -0.774193548387097 ACAAGGCTGTGGGTGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 50 626 0.808379772182869 1 0.904189886091435 NA NA 0.99693596741668 0.998001355596644 NA NA -0.188556195233811 0.00199864440335562 NA 0.997468661506662 NA -0.0932787754152277 NA FALSE NA 0.004 0.131 rs2253862 intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 12/15 rs2253862 1 C:0.3145 T:0.733 T:0.6542 NA T:0.6835 T:0.7207 T:0.6094 T:0.749 T:0.708 GCG T,T 0.706 1:45616288 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.479795 0.12377 0.00233 0.115753 0.586033408270717 0.0507164 0.470216299614197 FALSE 0.705598 ENSE00000771126_002 ENSE00000771126 002 1 46081947 46082116 + 62 57 51 G A 46081961 1751 15 ACAAGGCTGTGGGCAGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616288 45616289 45616289 upstr_intron -48 -0.758064516129032 ACAAGGCTGTGGGCAGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 46 571 1 0.999933322984191 0.999966661492096 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 0.00193196738754697 NA 0.997468661506662 NA 0.00249799998543337 NA FALSE NA 0.1 1.711 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 12/15 1 NA CGG G,A 1.647e-05 1:45616289 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.459438 0.26261 0.3014 0.115753 0.590775461215059 0.0507164 0.470216299614197 FALSE 1.21918e-05 ENSE00000771126_003 ENSE00000771126 003 1 46081947 46082116 + 62 57 51 G A 46081962 1752 16 ACAAGGCTGTGGGCGACCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616289 45616290 45616290 upstr_intron -47 -0.741935483870968 ACAAGGCTGTGGGCGACCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 84 276 1 0.998327998473656 0.999163999236828 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 0.000326642877011341 NA 0.997468661506662 NA 0.00169533773016556 NA FALSE NA 0.03 0.001 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 12/15 rs368575861 1 NA A:0 A:0.0001 GGC G,A 3.295e-05 1:45616290 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.440265 0.19914 0.02646 0.115753 0.637708939028858 0.0876036 0.470216299614197 FALSE 3.65717e-05 ENSE00000771126_004 ENSE00000771126 004 1 46081947 46082116 + 62 57 51 G T 46081966 1753 20 ACAAGGCTGTGGGCGGCCTTGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616293 45616294 45616294 upstr_intron -43 -0.67741935483871 ACAAGGCTGTGGGCGGCCTTGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 260 333 1 1 1 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 0.00199864440335562 NA 0.997468661506662 NA 0.0025313384933377 NA FALSE NA 0.003 0.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:45616294 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.365677 0.24553 0.22649 0.256867 0.731137497380654 0.0872632 0.470216299614197 FALSE 0.000199041 ENSE00000771126_005 ENSE00000771126 005 1 46081947 46082116 + 62 57 51 G A 46081966 1754 20 ACAAGGCTGTGGGCGGCCTAGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616293 45616294 45616294 upstr_intron -43 -0.67741935483871 ACAAGGCTGTGGGCGGCCTAGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 109 330 1 0.99646350907926 0.99823175453963 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 -0.00153784651738476 NA 0.997468661506662 NA 0.00076309303296751 NA FALSE NA 0.003 0.453 NA NA NA NASP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NASP NA NA NA ENSG00000132780 ENSE00003677926 intron_variant 0.535395 0.24133 0.18696 0.256867 0.651676831296739 0.0872632 0.470216299614197 FALSE 8.12414e-06 ENSE00000771126_007 ENSE00000771126 007 1 46081947 46082116 + 62 57 51 T C 46081974 1756 28 ACAAGGCTGTGGGCGGCCTGGGTTCTACCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616301 45616302 45616302 upstr_intron -35 -0.548387096774194 ACAAGGCTGTGGGCGGCCTGGGTTCTACCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 103 913 1 0.984189206092506 0.992094603046253 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 -0.0138121495041383 NA 0.997468661506662 NA -0.00537405846040928 NA FALSE NA 0.002 0.861 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 12/15 1 NA ATC T,C 8.237e-06 1:45616302 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.106795 0.26291 0.28216 0.256867 0.468331546627169 0.0912993 0.470216299614197 FALSE 4.06111e-06 ENSE00000771126_008 ENSE00000771126 008 1 46081947 46082116 + 62 57 51 A G 46081980 1757 34 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAGACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616307 45616308 45616308 upstr_intron -29 -0.451612903225806 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAGACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 118 228 0.994648285302299 1 0.997324142651149 NA NA 0.99693596741668 0.998001355596644 NA NA -0.00228768211438168 0.00199864440335562 NA 0.997468661506662 NA -0.000144518855513032 NA FALSE NA 0 -0.029 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 12/15 rs375571357 1 NA G:0 G:0.0001 AAA A,G 8.236e-06 1:45616308 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.375849 0.20253 0.01382 0.256867 0.411307021943089 0.0908014 0.470216299614197 FALSE 1.2183e-05 ENSE00000771126_009 ENSE00000771126 009 1 46081947 46082116 + 62 57 51 T G 46081992 1758 46 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGAGTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616319 45616320 45616320 upstr_intron -17 -0.258064516129032 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGAGTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 177 892 0.970545840423776 0.999700788288932 0.985123314356354 NA NA 0.99693596741668 0.998001355596644 NA NA -0.0263901269929046 0.00169943269228812 NA 0.997468661506662 NA -0.0123453471503082 NA FALSE NA 0.995 1.22 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 12/15 1 NA ATT T,G 3.295e-05 1:45616320 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.380468 0.24697 0.65454 0.283894 0.462941040895378 0.0938128 0.470216299614197 FALSE 3.2486e-05 ENSE00000771126_010 ENSE00000771126 010 1 46081947 46082116 + 62 57 51 A C 46081998 1759 52 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCCTTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616325 45616326 45616326 upstr_intron -11 -0.161290322580645 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCCTTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 62 63 0.98887168019377 1 0.994435840096885 NA NA 0.99693596741668 0.998001355596644 NA NA -0.00806428722291008 0.00199864440335562 NA 0.997468661506662 NA -0.00303282140977723 NA FALSE NA 0.004 -1.231 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 12/15 1 NA CAT A,C 8.237e-06 1:45616326 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.09601 0.20282 0.05984 0.283894 0.39402516399185 0.0994811 0.470216299614197 FALSE 4.06105e-06 ENSE00000771126_012 ENSE00000771126 012 1 46081947 46082116 + 62 57 51 G T 46082014 1761 68 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGATAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616341 45616342 45616342 exon 6 0.105263157894737 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGATAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 26 547 1 0.997670508414508 0.998835254207254 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 -0.000330847182136496 NA 0.997468661506662 NA 0.00136659270059164 NA FALSE NA 1 0.73 rs185056107 missense_variant MODERATE NASP HGNC 7644 ENST00000402363 13/16 rs185056107 1 possibly_damaging(0.801) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 AGA G,T 2.471e-05 1:45616342 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 missense_variant 1.99855 0.91772 0.77584 0.722319 0.985365927317968 0 0.470216299614197 FALSE 1.2182e-05 ENSE00000771126_013 ENSE00000771126 013 1 46081947 46082116 + 62 57 51 T C 46082031 1762 85 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTCCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616358 45616359 45616359 exon 23 0.403508771929825 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTCCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 768 1735 0.996308533331191 0.968043413818915 0.982175973575053 NA NA 0.99693596741668 0.998001355596644 NA NA -0.000627434085489709 -0.0299579417777295 NA 0.997468661506662 NA -0.0152926879316096 NA FALSE NA 1 3.851 . missense_variant MODERATE NASP HGNC 7644 ENST00000402363 13/16 1 possibly_damaging(0.82) NA TTC T,C 1.647e-05 1:45616359 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 missense_variant 6.814685 0.95212 0.9008 0.722319 0.998220833455097 0 0.470216299614197 FALSE 8.12123e-06 ENSE00000771126_014 ENSE00000771126 014 1 46081947 46082116 + 62 57 51 C T 46082036 1763 90 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTTCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616363 45616364 45616364 exon 28 0.491228070175439 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTTCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 79 893 1 0.980950121444353 0.990475060722177 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 -0.0170512341522912 NA 0.997468661506662 NA -0.00699360078448569 NA FALSE NA 0.074 -0.703 . missense_variant MODERATE NASP HGNC 7644 ENST00000402363 13/16 rs555817645 1 probably_damaging(0.932) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCC C,T 8.236e-06 1:45616364 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 missense_variant 1.714181 0.87889 0.0946 0.722319 0.96722285543239 0 0.470216299614197 FALSE 8.12123e-06 ENSE00000771126_015 ENSE00000771126 015 1 46081947 46082116 + 62 57 51 T C 46082051 1764 105 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCCCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616378 45616379 45616379 exon -15 0.754385964912281 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCCCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 181 308 1 1 1 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 0.00199864440335562 NA 0.997468661506662 NA 0.0025313384933377 NA FALSE NA 0.001 -0.002 . missense_variant MODERATE NASP HGNC 7644 ENST00000402363 13/16 rs377762556 1 possibly_damaging(0.82) NA C:0.0002 C:0 CTC T,C 8.236e-06 1:45616379 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 missense_variant 1.710027 0.29176 0.1288 0.722319 0.97408686299087 0 0.470216299614197 FALSE NA ENSE00000771126_016 ENSE00000771126 016 1 46081947 46082116 + 62 57 51 C G 46082052 1765 106 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTGTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616379 45616380 45616380 exon -14 0.771929824561403 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTGTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 362 147 0.961432733592043 1 0.980716366796021 NA NA 0.99693596741668 0.998001355596644 NA NA -0.0355032338246372 0.00199864440335562 NA 0.997468661506662 NA -0.0167522947106408 NA FALSE NA 0.01 0.951 rs145881643 missense_variant MODERATE NASP HGNC 7644 ENST00000402363 13/16 rs145881643 1 probably_damaging(0.938) NA G:0.0007 G:0 TCT C,G 6.589e-05 1:45616380 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 missense_variant 3.46551 0.56912 0.21871 0.722319 0.989270315297769 0 0.470216299614197 FALSE 4.06065e-05 ENSE00000771126_017 ENSE00000771126 017 1 46081947 46082116 + 62 57 51 C G 46082061 1766 115 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTGCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616388 45616389 45616389 exon -5 0.929824561403509 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTGCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 615 1491 1 0.999893914301816 0.999946957150908 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 0.00189255870517158 NA 0.997468661506662 NA 0.00247829564424568 NA FALSE NA 1 3.754 rs142910043 missense_variant MODERATE NASP HGNC 7644 ENST00000402363 13/16 rs142910043 1 probably_damaging(0.938) G:0.0010 G:0.0038 G:0 NA G:0 G:0 G:0 G:0.0016 G:0 TCC C,G 0.00014 1:45616389 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 missense_variant 5.435077 0.95368 0.91212 0.722319 0.967145055549845 0 0.470216299614197 FALSE 9.74596e-05 ENSE00000771126_019 ENSE00000771126 019 1 46081947 46082116 + 62 57 51 C A 46082069 1768 123 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGAGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616396 45616397 45616397 downstr_intron 4 1.08 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGAGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 204 278 1 1 1 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 0.00199864440335562 NA 0.997468661506662 NA 0.0025313384933377 NA FALSE NA 0.902 -0.391 . splice_region_variant&intron_variant LOW NASP HGNC 7644 ENST00000402363 13/15 rs371222754 1 NA A:0 A:0.0001 GCG C,A 8.236e-06 1:45616397 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 splice_region_variant 1.33919 0.65081 0.17756 0.075938 0.764018997515284 0.421546 0.470216299614197 FALSE 4.06114e-06 ENSE00000771126_020 ENSE00000771126 020 1 46081947 46082116 + 62 57 51 G A 46082070 1769 124 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCATATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 45616397 45616398 45616398 downstr_intron 5 1.1 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCATATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant 61 28 0.878506328075211 0.92853419874364 0.903520263409425 NA NA NA NA NA NA NA 0.99693596741668 0.998001355596644 NA NA NA NA NA 0.997468661506662 NA NA NA NA NA 1 4.747 . splice_region_variant&intron_variant LOW NASP HGNC 7644 ENST00000402363 13/15 rs535233608 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 1.647e-05 1:45616398 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 splice_region_variant 1.666503 0.9554 0.91827 0.075938 0.875526809480561 0.97228 0.470216299614197 FALSE 4.06114e-06 ENSE00000771126_021 ENSE00000771126 021 1 46081947 46082116 + 62 57 51 C A 46082097 1770 151 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTAAATTAAGTCTCAGTGTTGGC 45616274 45616444 45616424 45616425 45616425 downstr_intron 32 1.64 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTAAATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 525 211 0.996183451176507 1 0.998091725588254 NA NA 0.99693596741668 0.998001355596644 NA NA -0.000752516240172918 0.00199864440335562 NA 0.997468661506662 NA 0.000623064081591351 NA FALSE NA 0 -0.819 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 13/15 1 NA ACA C,A 8.236e-06 1:45616425 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.397225 0.13655 0.06064 0.075938 0.790418267068548 0.161494 0.470216299614197 FALSE 4.06461e-06 ENSE00000771126_022 ENSE00000771126 022 1 46081947 46082116 + 62 57 51 A G 46082102 1771 156 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAGGTCTCAGTGTTGGC 45616274 45616444 45616429 45616430 45616430 downstr_intron 37 1.74 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAGGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 222 969 1 0.999685185983304 0.999842592991652 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 0.00168383038665998 NA 0.997468661506662 NA 0.00237393148498988 NA FALSE NA 0 0.084 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 13/15 1 NA AAG A,G 8.236e-06 1:45616430 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.556633 0.1849 0.02197 0.075938 0.832527898082817 0.223386 0.470216299614197 FALSE 4.06583e-06 ENSE00000771126_023 ENSE00000771126 023 1 46081947 46082116 + 62 57 51 G A 46082103 1772 157 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAATCTCAGTGTTGGC 45616274 45616444 45616430 45616431 45616431 downstr_intron 38 1.76 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAATCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 602 2304 1 0.999794017345518 0.999897008672759 NA NA 0.99693596741668 0.998001355596644 NA NA 0.00306403258331978 0.00179266174887394 NA 0.997468661506662 NA 0.00242834716609686 NA FALSE NA 0 -0.133 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 13/15 1 NA AGT G,A 8.236e-06 1:45616431 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.802426 0.32935 0.05269 0.069865 0.752215755349257 0.658277 0.470216299614197 FALSE 4.06683e-06 ENSE00000771126_024 ENSE00000771126 024 1 46081947 46082116 + 62 57 51 T G 46082104 1773 158 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGGCTCAGTGTTGGC 45616274 45616444 45616431 45616432 45616432 downstr_intron 39 1.78 ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGGCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC mutant NA NA NA NA NA 637 425 0.994889246537504 0.998463048960043 0.996676147748774 NA NA 0.99693596741668 0.998001355596644 NA NA -0.0020467208791759 0.000461693363398741 NA 0.997468661506662 NA -0.00079251375788858 NA FALSE NA 0 -0.788 . intron_variant MODIFIER NASP HGNC 7644 ENST00000402363 13/15 1 NA GTC T,G 8.236e-06 1:45616432 NASP HGNC Symbol protein_coding 35058 ENSG00000132780 ENSE00003677926 intron_variant 0.249678 0.14168 0.02962 0.069865 0.71750023493158 0.161643 0.470216299614197 FALSE 4.06659e-06 ENSE00000771126_BRK ENSE00000771126 BRK 1 46081947 46082116 + 62 57 51 A,G; T,T NA NA NA ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCTTGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGCCGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC 45616274 45616444 NA NA NA NA NA NA ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCTTGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGCCGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC ACAAGGCTGTGGGCGGCCTGGGTTCTATCTTCAAACTAATTTGGATTTGTCATTTCTCGCAGGTGGAGAGTTCTACTTCAGGTTTCACTCCTGGTGGAGGAGGCTCTTCAGTCTCCATGGTGCGTATTCAGGTGGTTTTTTGGTCACTTACATTAAGTCTCAGTGTTGGC control 73 15 0 0 0 333 306 0 0 0 NA NA 0.99693596741668 0.998001355596644 NA NA -0.99693596741668 -0.998001355596644 NA 0.997468661506662 NA -0.997468661506662 NA TRUE NA NA NA NA NA NA NASP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NASP NA NA NA ENSG00000132780 ENSE00003677926 NA NA NA NA NA NA NA 0.470216299614197 FALSE NA ENSE00000771330_000 ENSE00000771330 000 1 46650849 46651018 + 48 84 38 NA NA NA NA NA GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 NA NA NA NA NA NA GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT natural 50 78 0.994355687692087 0.964078590220136 0.979217138956112 1471 1414 0.997243197154099 0.900915779873413 0.949079488513756 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 0 0 0 0 0.979217138956112 0.949079488513756 0 0 0 FALSE FALSE NA NA NA NA NA POMGNT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN1 NA NA NA ENSG00000117472 ENSE00003489855 NA NA NA NA NA NA NA 0.000714382124602965 FALSE NA ENSE00000771330_001 ENSE00000771330 001 1 46650849 46651018 + 48 84 38 C T 46650859 1774 11 GGGAGTAGGGTAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185186 46185187 46185187 upstr_intron -38 -0.770833333333333 GGGAGTAGGGTAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 44 14 0.996498724054711 1 0.998249362027355 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA -0.000744473099388521 0.0990842201265866 0.979217138956112 0.949079488513756 NA 0.049169873513599 NA FALSE NA 0 0.349 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 1 NA GCA C,T 8.236e-06 1:46185187 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 intron_variant 1.824354 0.38975 0.10559 0.114469 0.892975507025332 0.638493 0.000714382124602965 FALSE 1.21826e-05 ENSE00000771330_002 ENSE00000771330 002 1 46650849 46651018 + 48 84 38 C G 46650862 1775 14 GGGAGTAGGGCAGGTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185189 46185190 46185190 upstr_intron -35 -0.708333333333333 GGGAGTAGGGCAGGTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 645 638 0.968644522587971 0.999880610761008 0.98426256667449 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA -0.0285986745661279 0.0989648308875949 0.979217138956112 0.949079488513756 NA 0.0351830781607335 NA FALSE NA 0 0.189 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 1 NA GCT C,G 8.236e-06 1:46185190 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 intron_variant 1.542499 0.21505 0.09387 0.114469 0.738815047741135 0.119501 0.000714382124602965 FALSE 4.06072e-06 ENSE00000771330_003 ENSE00000771330 003 1 46650849 46651018 + 48 84 38 C A 46650865 1776 17 GGGAGTAGGGCAGCTGACAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185192 46185193 46185193 upstr_intron -32 -0.645833333333333 GGGAGTAGGGCAGCTGACAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 62 792 0.990320609328897 0.998441301891346 0.994380955610122 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA -0.00692258782520228 0.097525522017933 0.979217138956112 0.949079488513756 NA 0.0453014670963653 NA FALSE NA 0.074 2.072 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 1 NA GCC C,A 8.236e-06 1:46185193 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 intron_variant 2.017957 0.51018 0.35238 0.114469 0.851651369598022 0.941718 0.000714382124602965 FALSE 4.06075e-06 ENSE00000771330_004 ENSE00000771330 004 1 46650849 46651018 + 48 84 38 T C 46650872 1777 24 GGGAGTAGGGCAGCTGCCAACTACAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185199 46185200 46185200 upstr_intron -25 -0.5 GGGAGTAGGGCAGCTGCCAACTACAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 1174 458 0.995684163861142 0.996202766040243 0.995943464950692 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA -0.00155903329295692 0.0952869861668292 0.979217138956112 0.949079488513756 NA 0.0468639764369361 NA FALSE NA 0 0.076 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 rs368041262 1 NA C:0 C:0.0001 ATA T,C 8.236e-06 1:46185200 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 intron_variant 1.303973 0.19431 0.0753 0.114469 0.704962995199144 0.164497 0.000714382124602965 FALSE NA ENSE00000771330_005 ENSE00000771330 005 1 46650849 46651018 + 48 84 38 C G 46650880 1778 32 GGGAGTAGGGCAGCTGCCAACTATAAATGCTGTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185207 46185208 46185208 upstr_intron -17 -0.333333333333333 GGGAGTAGGGCAGCTGCCAACTATAAATGCTGTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 355 44 0.999302365872547 1 0.999651182936273 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA 0.00205916871844747 0.0990842201265866 0.979217138956112 0.949079488513756 NA 0.050571694422517 NA FALSE NA 0 0.453 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 1 NA TCT C,G 1.647e-05 1:46185208 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 intron_variant 0.910395 0.26986 0.0595 0.114469 0.653421209246977 0.141591 0.000714382124602965 FALSE NA ENSE00000771330_007 ENSE00000771330 007 1 46650849 46651018 + 48 84 38 G C 46650901 1780 53 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTCCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185228 46185229 46185229 exon 5 0.0595238095238095 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTCCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 53 41 1 0.989090532391772 0.994545266195886 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA 0.00275680284590096 0.0881747525183583 0.979217138956112 0.949079488513756 NA 0.0454657776821296 NA FALSE NA 1 8.844 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 rs370368119 1 NA C:0.0007 C:0 TGC G,C 4.118e-05 1:46185229 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 missense_variant 4.191136 0.95843 0.98123 0.495158 0.988217484518886 0 0.000714382124602965 FALSE 3.65456e-05 ENSE00000771330_010 ENSE00000771330 010 1 46650849 46651018 + 48 84 38 G T 46650921 1783 73 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATTACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185248 46185249 46185249 exon 25 0.297619047619048 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATTACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant 84 181 0.922090381241667 0.887346245585227 0.904718313413447 105 208 0.977661974436408 0.9958704452038 0.986766209820104 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 -0.0722653064504204 -0.0767323446349089 -0.0195812227176911 0.0949546653303861 0.979217138956112 0.949079488513756 -0.0744988255426646 0.0376867213063475 0.112185546849012 FALSE FALSE 0 -0.085 rs144913574 downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 rs144913574 1 NA T:0.0005 T:0 TGA G,T 3.295e-05 1:46185249 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 missense_variant -0.636219 0.32779 0.1472 0.495158 0.643828135649524 0 0.000714382124602965 FALSE 1.21818e-05 ENSE00000771330_011 ENSE00000771330 011 1 46650849 46651018 + 48 84 38 G A 46650928 1784 80 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCAAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185255 46185256 46185256 exon 32 0.380952380952381 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCAAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant 45 52 0.85 0.85 0.85 53 585 0.99605171319748 0.973611491020476 0.984831602108978 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 -0.144355687692087 -0.114078590220136 -0.00119148395661939 0.0726957111470625 0.979217138956112 0.949079488513756 -0.129217138956112 0.0357521135952216 0.164969252551333 FALSE FALSE 0 0.453 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 rs375232447 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0001 CGA G,A 8.236e-05 1:46185256 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 missense_variant 1.185205 0.32381 0.0398 0.495158 0.939617952017972 0 0.000714382124602965 FALSE 8.12117e-05 ENSE00000771330_012 ENSE00000771330 012 1 46650849 46651018 + 48 84 38 C T 46650944 1785 96 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACTGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185271 46185272 46185272 exon -37 0.571428571428571 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACTGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant 184 316 0.85 0.85 0.85 1084 35 0.934713690229128 0.94555242259858 0.940133056413854 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 -0.144355687692087 -0.114078590220136 -0.0625295069249713 0.0446366427251667 0.979217138956112 0.949079488513756 -0.129217138956112 -0.00894643209990231 0.120270706856209 FALSE FALSE 0 -1.944 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 rs368462173 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0001 CCG C,T 0.0001071 1:46185272 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 synonymous_variant 1.332713 0.18378 0.02105 0.495158 0.766371414727614 0 0.000714382124602965 FALSE 9.7454e-05 ENSE00000771330_015 ENSE00000771330 015 1 46650849 46651018 + 48 84 38 G A 46650947 1788 99 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTAGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185274 46185275 46185275 exon -34 0.607142857142857 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTAGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 377 313 1 0.999494385385735 0.999747192692868 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA 0.00275680284590096 0.0985786055123219 0.979217138956112 0.949079488513756 NA 0.0506677041791114 NA FALSE NA 0.999 0.571 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 1 NA TGG G,A 1.647e-05 1:46185275 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 synonymous_variant 0.897206 0.94806 0.76089 0.495158 0.726466022555992 0 0.000714382124602965 FALSE 8.12123e-06 ENSE00000771330_017 ENSE00000771330 017 1 46650849 46651018 + 48 84 38 T C 46650955 1790 107 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGCGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185282 46185283 46185283 exon -26 0.702380952380952 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGCGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant 19 11 1 1 1 141 827 1 0.999002520262239 0.99950126013112 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 0.00564431230791296 0.0359214097798638 0.00275680284590096 0.0980867403888256 0.979217138956112 0.949079488513756 0.0207828610438884 0.0504217716173633 0.0296389105734749 FALSE FALSE 1 5.44 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 COSM3490283 1 NA GTG T,C 8.236e-06 1:46185283 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 missense_variant 5.623701 0.96421 0.88531 0.495158 0.998241930187682 0 0.000714382124602965 FALSE 8.12123e-06 ENSE00000771330_018 ENSE00000771330 018 1 46650849 46651018 + 48 84 38 G A 46650978 1791 130 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCAAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185305 46185306 46185306 exon -3 0.976190476190476 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCAAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant 10 16 1 0.999663720058798 0.999831860029399 61 71 0.987936198388759 1 0.993968099194379 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 0.00564431230791296 0.0355851298386622 -0.00930699876534047 0.0990842201265866 0.979217138956112 0.949079488513756 0.0206147210732876 0.0448886106806231 0.0242738896073355 FALSE FALSE 1 6.8 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 rs371861627 1 NA A:0 A:0.0001 CGA G,A 1.647e-05 1:46185306 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 missense_variant 7.00762 0.96118 0.93163 0.421363 0.999092038800403 0 0.000714382124602965 FALSE 1.62431e-05 ENSE00000771330_019 ENSE00000771330 019 1 46650849 46651018 + 48 84 38 C G 46650986 1792 138 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGGAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185313 46185314 46185314 downstr_intron 6 1.16216216216216 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGGAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 144 952 0.985903776397374 0.993134562533564 0.989519169465469 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA -0.0113394207567248 0.0922187826601508 0.979217138956112 0.949079488513756 NA 0.040439680951713 NA FALSE NA 0.049 -0.353 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 1 NA GCA C,G 8.236e-06 1:46185314 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 splice_region_variant 1.410192 0.35735 0.03247 0.119485 0.786990423937568 0.0756485 0.000714382124602965 FALSE 1.21824e-05 ENSE00000771330_020 ENSE00000771330 020 1 46650849 46651018 + 48 84 38 G T 46650988 1793 140 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCATATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 46185315 46185316 46185316 downstr_intron 8 1.21621621621622 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCATATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant 17 12 0.996389984392202 1 0.998194992196101 NA NA NA NA NA 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 0.00203429670011546 0.0359214097798638 NA NA 0.979217138956112 0.949079488513756 0.0189778532399896 NA NA NA FALSE 0.037 1.314 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 rs375561647 1 NA T:0 T:0.0002 AGA G,T 8.236e-06 1:46185316 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 splice_region_variant 1.300123 0.36614 0.27241 0.119485 0.856551810247817 0.0756485 0.000714382124602965 FALSE 8.12156e-06 ENSE00000771330_022 ENSE00000771330 022 1 46650849 46651018 + 48 84 38 C A 46650998 1795 150 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGATGGGACTGGGACATGGGCAT 46185176 46185346 46185325 46185326 46185326 downstr_intron 18 1.48648648648649 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGATGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 62 24 0.941049567692977 1 0.970524783846489 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA -0.0561936294611218 0.0990842201265866 0.979217138956112 0.949079488513756 NA 0.0214452953327324 NA FALSE NA 0 -0.574 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 1 NA GCT C,A 1.647e-05 1:46185326 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 intron_variant 2.167697 0.27514 0.04546 0.088506 0.824159695052423 0.0846097 0.000714382124602965 FALSE 8.12249e-06 ENSE00000771330_023 ENSE00000771330 023 1 46650849 46651018 + 48 84 38 G A 46651007 1796 159 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGAGACATGGGCAT 46185176 46185346 46185334 46185335 46185335 downstr_intron 27 1.72972972972973 GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGAGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT mutant NA NA NA NA NA 115 148 1 1 1 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 NA NA 0.00275680284590096 0.0990842201265866 0.979217138956112 0.949079488513756 NA 0.0509205114862438 NA FALSE NA 0.842 2.232 . downstream_gene_variant MODIFIER POMGNT1 HGNC 19139 ENST00000475642 1 NA GGG G,A 8.236e-06 1:46185335 TSPAN1 HGNC Symbol protein_coding 10885 ENSG00000117472 ENSE00003489855 intron_variant 1.202192 0.93799 0.73454 0.077194 0.708467593905036 0.115055 0.000714382124602965 FALSE 8.12288e-06 ENSE00000771330_BRK ENSE00000771330 BRK 1 46650849 46651018 + 48 84 38 A,G; T,T NA NA NA GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGATTGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGCCAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT 46185176 46185346 NA NA NA NA NA NA GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGATTGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGCCAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT GGGAGTAGGGCAGCTGCCAACTATAAATGCTCTTTTCTCTTCCTGAAGGGTTGCTTCAATCAGCTTTTGTATGACATCCGAACTAATGCAGTCACCGTGGGTGGTGTGGCAGCTGGAATTGGGGGCCTCGAGGTAAGCAGATGAGGAGGCTGGGACTGGGACATGGGCAT control 80 59 0 0 0 NA NA NA NA NA 0.994355687692087 0.964078590220136 0.997243197154099 0.900915779873413 -0.994355687692087 -0.964078590220136 NA NA 0.979217138956112 0.949079488513756 -0.979217138956112 NA NA NA TRUE NA NA NA NA NA POMGNT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN1 NA NA NA ENSG00000117472 ENSE00003489855 NA NA NA NA NA NA NA 0.000714382124602965 FALSE NA ENSE00000773526_000 ENSE00000773526 000 3 62316947 62317116 + 53 75 42 NA NA NA NA NA GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 NA NA NA NA NA NA CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC natural 86 80 0.986190329722444 0.992637685728953 0.989414007725699 1968 2742 0.882577132693019 0.987954573370503 0.935265853031761 0.986190329722444 0.992637685728953 0.882577132693019 0.987954573370503 0 0 0 0 0.989414007725699 0.935265853031761 0 0 0 FALSE FALSE NA NA NA NA NA C3orf14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C3orf14 NA NA NA ENSG00000114405 ENSE00000773526 NA NA NA NA NA NA NA 1.59540116585515e-06 FALSE NA ENSE00000773526_BRK ENSE00000773526 BRK 3 62316947 62317116 + 53 75 42 A,G; T,T NA NA NA GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCGGCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCAAGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 NA NA NA NA NA NA CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACTTGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGCCGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC control 61 15 0 0 0 246 1537 0.0223815381560407 0.0851682285311122 0.0537748833435764 0.986190329722444 0.992637685728953 0.882577132693019 0.987954573370503 -0.986190329722444 -0.992637685728953 -0.860195594536979 -0.90278634483939 0.989414007725699 0.935265853031761 -0.989414007725699 -0.881490969688185 0.107923038037514 TRUE TRUE NA NA NA NA NA C3orf14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C3orf14 NA NA NA ENSG00000114405 ENSE00000773526 NA NA NA NA NA NA NA 1.59540116585515e-06 FALSE NA ENSE00000774268_000 ENSE00000774268 000 1 67518418 67518587 - 36 87 47 NA NA NA NA NA TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 NA NA NA NA NA NA TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT natural NA NA NA NA NA 6733 9035 0.903646892495332 0.941793448465673 0.922720170480502 NA NA 0.903646892495332 0.941793448465673 NA NA 0 0 NA 0.922720170480502 NA 0 NA FALSE NA NA NA NA NA NA SLC35D1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC35D1 NA NA NA ENSG00000116704 ENSE00000774268 NA NA NA NA NA NA NA 0.001854200528779 FALSE NA ENSE00000774268_001 ENSE00000774268 001 1 67518418 67518587 - 36 87 47 A G 67518431 2117 157 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTCTATTTTGTGAAAT 67052734 67052904 67052747 67052748 67052748 downstr_intron 23 1.65714285714286 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTCTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 351 528 1 0.997596142931553 0.998798071465776 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0963531075046684 0.0558026944658799 NA 0.922720170480502 NA 0.0760779009852742 NA FALSE NA 0 -0.63 . intron_variant MODIFIER SLC35D1 HGNC 20800 ENST00000235345 3/11 1 NA AAA A,G 8.236e-06 1:67052748 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 0.400465 0.21555 0.00765 0.11394 0.707284065884195 0.0797684 0.001854200528779 FALSE 4.06461e-06 ENSE00000774268_002 ENSE00000774268 002 1 67518418 67518587 - 36 87 47 C T 67518437 2118 151 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCAATACTTTATTTTGTGAAAT 67052734 67052904 67052753 67052754 67052754 downstr_intron 17 1.48571428571429 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCAATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 500 513 0.993725725557901 0.990760517179433 0.992243121368667 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0900788330625695 0.0489670687137598 NA 0.922720170480502 NA 0.0695229508881646 NA FALSE NA 0.006 0.724 . intron_variant MODIFIER SLC35D1 HGNC 20800 ENST00000235345 3/11 1 NA TCG C,T 8.236e-06 1:67052754 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 0.26045 0.13079 0.00073 0.11394 0.73521559293399 0.0797684 0.001854200528779 FALSE 4.06375e-06 ENSE00000774268_003 ENSE00000774268 003 1 67518418 67518587 - 36 87 47 G A 67518438 2119 150 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGTGATACTTTATTTTGTGAAAT 67052734 67052904 67052754 67052755 67052755 downstr_intron 16 1.45714285714286 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGTGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 312 1283 0.999508485828011 1 0.999754242914005 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0958615933326793 0.0582065515343271 NA 0.922720170480502 NA 0.0770340724335032 NA FALSE NA 0 -2.512 . intron_variant MODIFIER SLC35D1 HGNC 20800 ENST00000235345 3/11 1 NA CGC G,A 4.118e-05 1:67052755 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 0.18028 0.15886 0.01186 0.11394 0.66505175262254 0.0797684 0.001854200528779 FALSE 2.43841e-05 ENSE00000774268_004 ENSE00000774268 004 1 67518418 67518587 - 36 87 47 C A 67518447 2120 141 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAATAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052763 67052764 67052764 downstr_intron 7 1.2 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAATAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 1394 25 0.994212646315659 0.819814308704378 0.907013477510019 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0905657538203275 -0.121979139761295 NA 0.922720170480502 NA -0.0157066929704835 NA FALSE NA 0 -2.092 . splice_region_variant&intron_variant LOW SLC35D1 HGNC 20800 ENST00000235345 3/11 rs368795641 1 NA A:0.0002 A:0 TCT C,A 8.236e-06 1:67052764 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 splice_region_variant 1.206804 0.25872 0.01089 0.11394 0.823777349711262 0.157138 0.001854200528779 FALSE 4.06141e-06 ENSE00000774268_006 ENSE00000774268 006 1 67518418 67518587 - 36 87 47 G C 67518459 2122 129 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTGGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052775 67052776 67052776 exon -6 0.942528735632184 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTGGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 2156 282 0.991993728648397 0.981029681681758 0.986511705165078 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0883468361530656 0.0392362332160853 NA 0.922720170480502 NA 0.0637915346845754 NA FALSE NA 1 3.968 . missense_variant MODERATE SLC35D1 HGNC 20800 ENST00000235345 3/12 rs267607063&CM094509 1 tolerated(0.35) benign(0.011) NA CGA G,C 8.236e-06 1:67052776 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 missense_variant 3.409134 0.96831 0.7382 0.65757 0.984025540506282 0 0.001854200528779 FALSE 8.1213e-06 ENSE00000774268_008 ENSE00000774268 008 1 67518418 67518587 - 36 87 47 G A 67518477 2124 111 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACTTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052793 67052794 67052794 exon -24 0.735632183908046 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACTTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 618 1296 0.992202911215696 0.990040506825304 0.9911217090205 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0885560187203647 0.0482470583596307 NA 0.922720170480502 NA 0.0684015385399977 NA FALSE NA 0.011 -0.047 rs145382776 missense_variant MODERATE SLC35D1 HGNC 20800 ENST00000235345 3/12 rs145382776 1 tolerated(1) benign(0.001) A:0.0006 A:0 A:0.0014 NA A:0 A:0.002 A:0 A:0.0009 A:0.0006 AGG G,A 0.0006836 1:67052794 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 missense_variant 0.113784 0.90752 0.10175 0.65757 0.887434985059849 0 0.001854200528779 FALSE 0.000605022 ENSE00000774268_009 ENSE00000774268 009 1 67518418 67518587 - 36 87 47 A G 67518481 2125 107 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCCGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052797 67052798 67052798 exon -28 0.689655172413793 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCCGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 164 1302 0.962391702782687 0.99955173823692 0.980971720509804 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0587448102873556 0.0577582897712475 NA 0.922720170480502 NA 0.0582515500293015 NA FALSE NA 0.208 -0.361 . synonymous_variant LOW SLC35D1 HGNC 20800 ENST00000235345 3/12 rs371868604 1 NA G:0.0002 G:0 CAG A,G 8.236e-06 1:67052798 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 synonymous_variant 0.703566 0.92072 0.14779 0.652421 0.781072896113183 0 0.001854200528779 FALSE 4.06055e-06 ENSE00000774268_012 ENSE00000774268 012 1 67518418 67518587 - 36 87 47 T A 67518493 2128 95 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTTGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052809 67052810 67052810 exon -40 0.551724137931034 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTTGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 833 1747 0.957317777502841 0.963063889310109 0.960190833406475 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0536708850075093 0.0212704408444361 NA 0.922720170480502 NA 0.0374706629259727 NA FALSE NA 0.029 -0.286 . synonymous_variant LOW SLC35D1 HGNC 20800 ENST00000235345 3/12 1 NA CTA T,A 8.236e-06 1:67052810 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 synonymous_variant 1.792056 0.91896 0.18492 0.627647 0.84673811936818 0 0.001854200528779 FALSE 4.06055e-06 ENSE00000774268_013 ENSE00000774268 013 1 67518418 67518587 - 36 87 47 G A 67518503 2129 85 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGTGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052819 67052820 67052820 exon 38 0.436781609195402 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGTGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 925 237 0.970806795169461 0.967855067311512 0.969330931240487 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0671599026741295 0.0260616188458392 NA 0.922720170480502 NA 0.0466107607599844 NA FALSE NA 0.862 2.677 . missense_variant MODERATE SLC35D1 HGNC 20800 ENST00000235345 3/12 rs369183359 1 tolerated(0.26) benign(0.005) NA A:0.0002 A:0 CGC G,A 4.118e-05 1:67052820 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 missense_variant 3.428832 0.95165 0.54892 0.627647 0.922607023069142 0 0.001854200528779 FALSE 2.03032e-05 ENSE00000774268_015 ENSE00000774268 015 1 67518418 67518587 - 36 87 47 A C 67518512 2131 76 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGGGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052828 67052829 67052829 exon 29 0.333333333333333 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGGGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 1270 2768 0.97806788120462 0.978760245237094 0.978414063220857 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0744209887092879 0.0369667967714216 NA 0.922720170480502 NA 0.0556938927403547 NA FALSE NA 1 2.662 . missense_variant MODERATE SLC35D1 HGNC 20800 ENST00000235345 3/12 1 deleterious(0.03) benign(0.003) NA CAC A,C 8.236e-06 1:67052829 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 missense_variant 2.738975 0.96076 0.60979 0.627647 0.963166728342183 0 0.001854200528779 FALSE 4.06062e-06 ENSE00000774268_017 ENSE00000774268 017 1 67518418 67518587 - 36 87 47 C T 67518534 2133 54 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGACCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052850 67052851 67052851 exon 7 0.0804597701149425 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGACCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 552 574 0.855060004400378 0.985002144983662 0.92003107469202 NA NA 0.903646892495332 0.941793448465673 NA NA -0.0485868880949536 0.0432086965179894 NA 0.922720170480502 NA -0.00268909578848209 NA FALSE NA 1 7.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:67052851 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 missense_variant 5.923707 0.9769 0.85561 0.627647 0.998545325493195 0 0.001854200528779 FALSE 0.0706135 ENSE00000774268_018 ENSE00000774268 018 1 67518418 67518587 - 36 87 47 C A 67518534 2134 54 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGTCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052850 67052851 67052851 exon 7 0.0804597701149425 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGTCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 1673 340 0.998190339940608 0.999422155397282 0.998806247668945 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0945434474452763 0.0576287069316095 NA 0.922720170480502 NA 0.0760860771884429 NA FALSE NA 1 7.393 NA NA NA SLC35D1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC35D1 NA NA NA ENSG00000116704 ENSE00000774268 missense_variant 5.619852 0.97753 0.87376 0.627647 0.99495565925401 0 0.001854200528779 FALSE 3.24865e-05 ENSE00000774268_019 ENSE00000774268 019 1 67518418 67518587 - 36 87 47 C T 67518537 2135 51 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGATGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052853 67052854 67052854 exon 4 0.0459770114942529 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGATGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 847 507 0.999854147379883 1 0.999927073689941 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0962072548845512 0.0582065515343271 NA 0.922720170480502 NA 0.0772069032094391 NA FALSE NA 0.986 0.618 . missense_variant MODERATE SLC35D1 HGNC 20800 ENST00000235345 3/12 1 tolerated(0.14) benign(0.235) NA ACC C,T 8.236e-06 1:67052854 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 missense_variant 3.298425 0.94702 0.40613 0.627647 0.991916210085507 0 0.001854200528779 FALSE 4.06065e-06 ENSE00000774268_020 ENSE00000774268 020 1 67518418 67518587 - 36 87 47 T C 67518540 2136 48 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGGTGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052856 67052857 67052857 exon 1 0.0114942528735632 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGGTGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 140 43 0.975001320923209 1 0.987500660461604 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0713544284278771 0.0582065515343271 NA 0.922720170480502 NA 0.0647804899811021 NA FALSE NA 1 7.603 . missense_variant&splice_region_variant MODERATE SLC35D1 HGNC 20800 ENST00000235345 3/12 1 deleterious(0.01) probably_damaging(0.991) NA ATC T,C 8.236e-06 1:67052857 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 missense_variant 5.028374 0.97188 0.84715 0.627647 0.995364529761354 0 0.001854200528779 FALSE 4.06081e-06 ENSE00000774268_021 ENSE00000774268 021 1 67518418 67518587 - 36 87 47 T C 67518544 2137 44 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTGCAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052860 67052861 67052861 upstr_intron -4 -0.0638297872340425 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTGCAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 1529 535 0.997741463241593 0.9961385262164 0.996939994728997 NA NA 0.903646892495332 0.941793448465673 NA NA 0.094094570746261 0.0543450777507275 NA 0.922720170480502 NA 0.0742198242484943 NA FALSE NA 0.172 0.314 . splice_region_variant&intron_variant LOW SLC35D1 HGNC 20800 ENST00000235345 2/11 1 NA GTA T,C 8.236e-06 1:67052861 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 splice_region_variant 1.60946 0.91485 0.14878 0.11394 0.890353596763752 0.676183 0.001854200528779 FALSE 2.84266e-05 ENSE00000774268_022 ENSE00000774268 022 1 67518418 67518587 - 36 87 47 A G 67518552 2138 36 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCCCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052868 67052869 67052869 upstr_intron -12 -0.234042553191489 TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCCCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 1042 425 0.748405469953766 0.820772393081455 0.78458893151761 NA NA 0.903646892495332 0.941793448465673 NA NA -0.155241422541566 -0.121021055384218 NA 0.922720170480502 NA -0.138131238962892 NA FALSE NA 1 1.387 . intron_variant MODIFIER SLC35D1 HGNC 20800 ENST00000235345 2/11 1 NA GAG A,G 8.236e-06 1:67052869 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 1.976648 0.92802 0.5259 0.11394 0.834439426727175 0.596398 0.001854200528779 FALSE 4.06101e-06 ENSE00000774268_023 ENSE00000774268 023 1 67518418 67518587 - 36 87 47 G C 67518560 2139 28 TGTGTCTTTATGTGTAGAACAGTGAATGTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052876 67052877 67052877 upstr_intron -20 -0.404255319148936 TGTGTCTTTATGTGTAGAACAGTGAATGTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 1257 2158 0.997177283351812 0.99546382057587 0.996320551963841 NA NA 0.903646892495332 0.941793448465673 NA NA 0.09353039085648 0.0536703721101972 NA 0.922720170480502 NA 0.0736003814833386 NA FALSE NA 0 0.681 . intron_variant MODIFIER SLC35D1 HGNC 20800 ENST00000235345 2/11 1 NA AGA G,C 8.236e-06 1:67052877 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 1.957323 0.89065 0.43331 0.11394 0.859878572478715 0.597803 0.001854200528779 FALSE 2.84292e-05 ENSE00000774268_024 ENSE00000774268 024 1 67518418 67518587 - 36 87 47 C G 67518564 2140 24 TGTGTCTTTATGTGTAGAACAGTCAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052880 67052881 67052881 upstr_intron -24 -0.48936170212766 TGTGTCTTTATGTGTAGAACAGTCAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 297 13 0.89572232296076 1 0.94786116148038 NA NA 0.903646892495332 0.941793448465673 NA NA -0.00792456953457199 0.0582065515343271 NA 0.922720170480502 NA 0.0251409909998775 NA FALSE NA 0.281 1.278 . intron_variant MODIFIER SLC35D1 HGNC 20800 ENST00000235345 2/11 1 NA TCA C,G 8.236e-06 1:67052881 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 2.083466 0.94909 0.52172 0.11394 0.785299087956587 0.895917 0.001854200528779 FALSE 4.06154e-06 ENSE00000774268_025 ENSE00000774268 025 1 67518418 67518587 - 36 87 47 G A 67518568 2141 20 TGTGTCTTTATGTGTAGAATAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052884 67052885 67052885 upstr_intron -28 -0.574468085106383 TGTGTCTTTATGTGTAGAATAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 997 383 0.99995871559214 0.999000117807711 0.999479416699925 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0963118230968084 0.057206669342038 NA 0.922720170480502 NA 0.0767592462194232 NA FALSE NA 1 4.171 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:67052885 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 2.16273 0.9531 0.61896 0.11394 0.850502086455054 0.975557 0.001854200528779 FALSE 0.000264002 ENSE00000774268_026 ENSE00000774268 026 1 67518418 67518587 - 36 87 47 G C 67518568 2142 20 TGTGTCTTTATGTGTAGAAGAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052884 67052885 67052885 upstr_intron -28 -0.574468085106383 TGTGTCTTTATGTGTAGAAGAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 1077 1424 0.998538860244913 0.998489198266605 0.998514029255759 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0948919677495812 0.0566957498009325 NA 0.922720170480502 NA 0.0757938587752569 NA FALSE NA 1 4.171 NA NA NA SLC35D1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC35D1 NA NA NA ENSG00000116704 ENSE00000774268 intron_variant 1.992464 0.95568 0.75248 0.11394 0.875894516879358 0.975557 0.001854200528779 FALSE 1.62463e-05 ENSE00000774268_027 ENSE00000774268 027 1 67518418 67518587 - 36 87 47 C G 67518571 2143 17 TGTGTCTTTATGTGTACAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052887 67052888 67052888 upstr_intron -31 -0.638297872340426 TGTGTCTTTATGTGTACAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 13 134 0.996790685379743 0.987437668621248 0.992114177000495 NA NA 0.903646892495332 0.941793448465673 NA NA 0.093143792884411 0.0456442201555752 NA 0.922720170480502 NA 0.0693940065199931 NA FALSE NA 0.044 1.058 . intron_variant MODIFIER SLC35D1 HGNC 20800 ENST00000235345 2/11 rs542360761 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCT C,G 8.236e-06 1:67052888 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 1.787807 0.47335 0.16357 0.11394 0.718440216354261 0.528545 0.001854200528779 FALSE 4.06154e-06 ENSE00000774268_028 ENSE00000774268 028 1 67518418 67518587 - 36 87 47 T C 67518572 2144 16 TGTGTCTTTATGTGTGGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT 67052734 67052904 67052888 67052889 67052889 upstr_intron -32 -0.659574468085106 TGTGTCTTTATGTGTGGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT TGTGTCTTTATGTGTAGAACAGTGAATCTGTGTTCTCTTGTTTACAGATGGTGGCCACAGTGGCAGTTCTCTGGGTGGGAAAGGCGCTCAGAGTAGTCAAGTTTCCTGACCTTGACAGAAATGTACCTCGAAAGGTAAAAGAAGAAAAGCGATACTTTATTTTGTGAAAT mutant NA NA NA NA NA 185 392 0.989907200724906 0.98675833417008 0.988332767447493 NA NA 0.903646892495332 0.941793448465673 NA NA 0.0862603082295743 0.0449648857044066 NA 0.922720170480502 NA 0.0656125969669905 NA FALSE NA 0 -0.23 . intron_variant MODIFIER SLC35D1 HGNC 20800 ENST00000235345 2/11 1 NA CTA T,C 8.236e-06 1:67052889 SLC35D1 HGNC Symbol protein_coding 54767 ENSG00000116704 ENSE00000774268 intron_variant 1.317102 0.25047 0.02469 0.11394 0.738116853586056 0.449351 0.001854200528779 FALSE 4.06144e-06 ENSE00000775134_000 ENSE00000775134 000 1 78207008 78207177 - 53 54 63 NA NA NA NA NA TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT 77741322 77741492 NA NA NA NA NA NA TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT natural NA NA NA NA NA 1192 3667 0.995546594350786 0.964162318070156 0.979854456210471 NA NA 0.995546594350786 0.964162318070156 NA NA 0 0 NA 0.979854456210471 NA 0 NA FALSE NA NA NA NA NA NA USP33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP33 NA NA NA ENSG00000077254 ENSE00003631989 NA NA NA NA NA NA NA 0.996116690829413 TRUE NA ENSE00000775134_005 ENSE00000775134 005 1 78207008 78207177 - 53 54 63 T G 78207028 2174 150 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTCTAATAATAATAAATTTGGAT 77741322 77741492 77741342 77741343 77741343 downstr_intron 33 1.63461538461538 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTCTAATAATAATAAATTTGGAT TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT mutant NA NA NA NA NA 77 56 1 0.95 0.975 NA NA 0.995546594350786 0.964162318070156 NA NA 0.00445340564921426 -0.0141623180701557 NA 0.979854456210471 NA -0.0048544562104707 NA FALSE NA 0.015 0.339 . intron_variant&non_coding_transcript_variant MODIFIER USP33 HGNC 20059 ENST00000528150 3/4 TMP_ESP_1_78207028_78207028 1 NA -:0.0002 -:0 ATA T,G 8.243e-06 1:77741343 USP33 HGNC Symbol protein_coding 63865 ENSG00000077254 ENSE00003631989 intron_variant -0.013641 0.29691 0.05799 0.163922 0.664964758238897 0.0510595 0.996116690829413 TRUE 4.73162e-06 ENSE00000775134_007 ENSE00000775134 007 1 78207008 78207177 - 53 54 63 A G 78207046 2176 132 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTCTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT 77741322 77741492 77741360 77741361 77741361 downstr_intron 15 1.28846153846154 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTCTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT mutant NA NA NA NA NA 29 178 1 0.999110462319458 0.999555231159729 NA NA 0.995546594350786 0.964162318070156 NA NA 0.00445340564921426 0.0349481442493018 NA 0.979854456210471 NA 0.019700774949258 NA FALSE NA 0.253 0.372 . intron_variant&non_coding_transcript_variant MODIFIER USP33 HGNC 20059 ENST00000528150 3/4 1 NA AAA A,G 8.238e-06 1:77741361 USP33 HGNC Symbol protein_coding 63865 ENSG00000077254 ENSE00003631989 intron_variant 0.231056 0.34497 0.17087 0.163922 0.712951856080555 0.0936356 0.996116690829413 TRUE NA ENSE00000775134_009 ENSE00000775134 009 1 78207008 78207177 - 53 54 63 T C 78207054 2178 124 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTGTATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT 77741322 77741492 77741368 77741369 77741369 downstr_intron 7 1.13461538461538 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTGTATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT mutant NA NA NA NA NA 31 508 1 0.977321775215659 0.988660887607829 NA NA 0.995546594350786 0.964162318070156 NA NA 0.00445340564921426 0.0131594571455028 NA 0.979854456210471 NA 0.00880643139735854 NA FALSE NA 0 -3.615 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW USP33 HGNC 20059 ENST00000528150 3/4 1 NA ATA T,C 8.238e-06 1:77741369 USP33 HGNC Symbol protein_coding 63865 ENSG00000077254 ENSE00003631989 splice_region_variant -0.276169 0.12135 0.01068 0.163922 0.544151779930524 0.18195 0.996116690829413 TRUE 4.26883e-06 ENSE00000775134_010 ENSE00000775134 010 1 78207008 78207177 - 53 54 63 T C 78207070 2179 108 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCGTGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT 77741322 77741492 77741384 77741385 77741385 exon -10 0.833333333333333 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCGTGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT mutant NA NA NA NA NA 175 516 1 0.99977843270811 0.999889216354055 NA NA 0.995546594350786 0.964162318070156 NA NA 0.00445340564921426 0.0356161146379539 NA 0.979854456210471 NA 0.0200347601435841 NA FALSE NA 0.718 -0.659 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP33 HGNC 20059 ENST00000528150 3/5 1 NA ATG T,C 8.237e-06 1:77741385 USP33 HGNC Symbol protein_coding 63865 ENSG00000077254 ENSE00003631989 synonymous_variant 0.980116 0.96943 0.44501 0.732398 0.6393145620596 0 0.996116690829413 TRUE 8.28439e-06 ENSE00000775134_012 ENSE00000775134 012 1 78207008 78207177 - 53 54 63 T C 78207095 2181 83 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAGAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT 77741322 77741492 77741409 77741410 77741410 exon 20 0.37037037037037 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAGAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT mutant NA NA NA NA NA 112 243 0.997022856365002 0.995986065256115 0.996504460810558 NA NA 0.995546594350786 0.964162318070156 NA NA 0.00147626201421602 0.0318237471859589 NA 0.979854456210471 NA 0.0166500046000875 NA FALSE NA 1 4.178 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP33 HGNC 20059 ENST00000528150 3/5 1 NA TTT T,C 1.648e-05 1:77741410 USP33 HGNC Symbol protein_coding 63865 ENSG00000077254 ENSE00003631989 missense_variant 2.201638 0.98625 0.9691 0.732398 0.994792456845998 0 0.996116690829413 TRUE 8.24572e-06 ENSE00000775134_016 ENSE00000775134 016 1 78207008 78207177 - 53 54 63 T A 78207129 2185 49 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTTATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT 77741322 77741492 77741443 77741444 77741444 upstr_intron -15 -0.222222222222222 TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTTATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT mutant NA NA NA NA NA 366 36 1 0.995581217394881 0.99779060869744 NA NA 0.995546594350786 0.964162318070156 NA NA 0.00445340564921426 0.031418899324725 NA 0.979854456210471 NA 0.0179361524869696 NA FALSE NA 0 -0.539 NA NA NA USP33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:77741444 USP33 HGNC Symbol protein_coding 63865 ENSG00000077254 ENSE00003631989 intron_variant 0.218651 0.1517 0.01234 0.088506 0.376558940834341 0.0518745 0.996116690829413 TRUE 4.31064e-06 ENSE00000775134_019 ENSE00000775134 019 1 78207008 78207177 - 53 54 63 T A 78207165 2188 13 TTAGTGAATTGTTTGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT 77741322 77741492 77741479 77741480 77741480 upstr_intron -51 -0.793650793650794 TTAGTGAATTGTTTGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT TTAGTGAATTGTATGTGTTTGTGTCAATATAACCAATGTTGTCTTTTTAATTTCTTTTTATAGGGTACTTGTCAGGATTGTAAAGTCCAAGGACCAAATCTTTGGGCATGTCTGGAGGTGTGTATATGTTTTTTCCTGAAAAGATTGCTATAATAATAATAAATTTGGAT mutant NA NA NA NA NA 666 87 0.997564894732861 0.977508680131674 0.987536787432267 NA NA 0.995546594350786 0.964162318070156 NA NA 0.00201830038207551 0.013346362061518 NA 0.979854456210471 NA 0.00768233122179673 NA FALSE NA 0 -0.992 . intron_variant&non_coding_transcript_variant MODIFIER USP33 HGNC 20059 ENST00000528150 2/4 1 NA ATA T,A 8.238e-06 1:77741480 USP33 HGNC Symbol protein_coding 63865 ENSG00000077254 ENSE00003631989 intron_variant 1.20739 0.12326 0.03572 0.106106 0.768692759348094 0.0521977 0.996116690829413 TRUE 4.43039e-06 ENSE00000775171_000 ENSE00000775171 000 3 108688463 108688632 - 53 54 63 NA NA NA NA NA TTCGAACACAGGATCATTTAGAATATAAATGGTGATACTGAAAGGAAGCTTACCTGGTTGAAACACATTTTCAGCTTTTTGTTCATCTGCTCTGGGCACTGCTCCAGCTGTTTTCATAAATGATAATAGAACAGGATATTAGCTTTTAGAGAATGTGCTGTCTACAGCAG 108969615 108969785 NA NA NA NA NA NA CTGCTGTAGACAGCACATTCTCTAAAAGCTAATATCCTGTTCTATTATCATTTATGAAAACAGCTGGAGCAGTGCCCAGAGCAGATGAACAAAAAGCTGAAAATGTGTTTCAACCAGGTAAGCTTCCTTTCAGTATCACCATTTATATTCTAAATGATCCTGTGTTCGAA CTGCTGTAGACAGCACATTCTCTAAAAGCTAATATCCTGTTCTATTATCATTTATGAAAACAGCTGGAGCAGTGCCCAGAGCAGATGAACAAAAAGCTGAAAATGTGTTTCAACCAGGTAAGCTTCCTTTCAGTATCACCATTTATATTCTAAATGATCCTGTGTTCGAA natural NA NA NA NA NA 2187 1805 0.996928983784209 0.89992766815918 0.948428325971695 NA NA 0.996928983784209 0.89992766815918 NA NA 0 0 NA 0.948428325971695 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00000775171 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00000777964_000 ENSE00000777964 000 19 17296680 17296849 + 50 81 39 NA NA NA NA NA GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 NA NA NA NA NA NA GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG natural 60 72 0.996335594866676 0.997434025479766 0.996884810173221 1632 2830 0.994255986312559 0.856025378447991 0.925140682380275 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 0 0 0 0 0.996884810173221 0.925140682380275 0 0 0 FALSE FALSE NA NA NA NA NA MYO9B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO9B NA NA NA ENSG00000099331 ENSE00003461596 NA NA NA NA NA NA NA 0.999998877096737 TRUE NA ENSE00000777964_001 ENSE00000777964 001 19 17296680 17296849 + 50 81 39 C T 17296693 1600 14 GCTGTCAGGGTCCTTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185883 17185884 17185884 upstr_intron -37 -0.72 GCTGTCAGGGTCCTTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 2796 1526 0.916521733146543 0.997517919693012 0.957019826419778 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA -0.077734253166016 0.141492541245021 0.996884810173221 0.925140682380275 NA 0.0318791440395026 NA FALSE NA 0 0.462 . intron_variant MODIFIER MYO9B HGNC 7609 ENST00000602177 5/6 rs377605105 1 NA T:0.0005 T:0 CCT C,T 4.136e-05 19:17185884 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 intron_variant 0.310448 0.21611 0.07462 0.256867 0.653678687544798 0.100922 0.999998877096737 TRUE 5.29829e-05 ENSE00000777964_002 ENSE00000777964 002 19 17296680 17296849 + 50 81 39 T C 17296697 1601 18 GCTGTCAGGGTCCCTGACTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185887 17185888 17185888 upstr_intron -33 -0.64 GCTGTCAGGGTCCCTGACTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 152 563 1 0.99815375359784 0.99907687679892 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00574401368744115 0.142128375149849 0.996884810173221 0.925140682380275 NA 0.0739361944186452 NA FALSE NA 0 -1.096 . intron_variant MODIFIER MYO9B HGNC 7609 ENST00000602177 5/6 rs370226659 1 NA C:0 C:0.0001 ATT T,C 1.654e-05 19:17185888 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 intron_variant -0.028199 0.10683 0.00951 0.256867 0.317906367163283 0.100922 0.999998877096737 TRUE 2.4431e-05 ENSE00000777964_003 ENSE00000777964 003 19 17296680 17296849 + 50 81 39 C G 17296699 1602 20 GCTGTCAGGGTCCCTGATTGAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185889 17185890 17185890 upstr_intron -31 -0.6 GCTGTCAGGGTCCCTGATTGAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 589 289 0.99958002487322 0.993375597969174 0.996477811421197 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00532403856066077 0.137350219521183 0.996884810173221 0.925140682380275 NA 0.0713371290409218 NA FALSE NA 0 -0.272 . intron_variant MODIFIER MYO9B HGNC 7609 ENST00000602177 5/6 rs372691274 1 G:0.0008 G:0 G:0 NA G:0 G:0 G:0.0041 G:0.0003 G:0 TCA C,G 0.0007776 19:17185890 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 intron_variant -0.020742 0.17821 0.05557 0.256867 0.410502536252313 0.100922 0.999998877096737 TRUE 0.000716747 ENSE00000777964_004 ENSE00000777964 004 19 17296680 17296849 + 50 81 39 T C 17296717 1603 38 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCCTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185907 17185908 17185908 upstr_intron -13 -0.24 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCCTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 330 1099 0.999249344231666 0.999478874493412 0.999364109362539 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00499335791910693 0.143453496045421 0.996884810173221 0.925140682380275 NA 0.074223426982264 NA FALSE NA 0.002 1.033 . intron_variant MODIFIER MYO9B HGNC 7609 ENST00000602177 5/6 1 NA CTT T,C 8.273e-06 19:17185908 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 intron_variant -0.01954 0.29749 0.17216 0.256867 0.368062293977737 0.12391 0.999998877096737 TRUE 1.62599e-05 ENSE00000777964_005 ENSE00000777964 005 19 17296680 17296849 + 50 81 39 A C 17296726 1604 47 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTACCAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185916 17185917 17185917 upstr_intron -4 -0.06 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTACCAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 643 273 1 1 1 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00574401368744115 0.143974621552009 0.996884810173221 0.925140682380275 NA 0.0748593176197251 NA FALSE NA 0.458 0.202 . splice_region_variant&intron_variant LOW MYO9B HGNC 7609 ENST00000602177 5/6 rs377446239 1 NA C:0 C:0.0002 AAC A,C 4.965e-05 19:17185917 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 splice_region_variant 0.13171 0.84138 0.08889 0.256867 0.545486699624599 0.289362 0.999998877096737 TRUE 3.65761e-05 ENSE00000777964_006 ENSE00000777964 006 19 17296680 17296849 + 50 81 39 A T 17296732 1605 53 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACTTCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185922 17185923 17185923 exon 3 0.037037037037037 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACTTCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 638 782 0.991142139088505 1 0.995571069544253 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA -0.00311384722405361 0.143974621552009 0.996884810173221 0.925140682380275 NA 0.0704303871639778 NA FALSE NA 0 -1.894 . splice_region_variant&synonymous_variant LOW MYO9B HGNC 7609 ENST00000602177 6/7 rs571797159 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CAT A,T 1.655e-05 19:17185923 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 splice_region_variant -0.59027 0.24788 0.08205 0.744818 0.483020233097911 0 0.999998877096737 TRUE 8.12711e-06 ENSE00000777964_007 ENSE00000777964 007 19 17296680 17296849 + 50 81 39 T C 17296746 1606 67 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCCCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185936 17185937 17185937 exon 17 0.209876543209877 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCCCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 719 258 0.996289497301073 0.995915217200354 0.996102357250714 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00203351098851456 0.139889838752363 0.996884810173221 0.925140682380275 NA 0.0709616748704388 NA FALSE NA 1 7.818 . missense_variant MODERATE MYO9B HGNC 7609 ENST00000602177 6/7 1 NA CTC T,C 8.274e-06 19:17185937 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 missense_variant 5.219668 0.96799 0.95866 0.744818 0.998793728059746 0 0.999998877096737 TRUE 4.06204e-06 ENSE00000777964_010 ENSE00000777964 010 19 17296680 17296849 + 50 81 39 C T 17296784 1609 105 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCTGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185974 17185975 17185975 exon -27 0.679012345679012 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCTGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 291 159 1 0.923896528239794 0.961948264119897 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00574401368744115 0.0678711497918029 0.996884810173221 0.925140682380275 NA 0.036807581739622 NA FALSE NA 1 2.935 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:17185975 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 missense_variant 8.02426 0.95121 0.89457 0.744818 0.99941342802323 0 0.999998877096737 TRUE 2.84294e-05 ENSE00000777964_011 ENSE00000777964 011 19 17296680 17296849 + 50 81 39 C G 17296784 1610 105 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCGGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185974 17185975 17185975 exon -27 0.679012345679012 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCGGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 134 118 1 0.979218875059897 0.989609437529948 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00574401368744115 0.123193496611906 0.996884810173221 0.925140682380275 NA 0.0644687551496737 NA FALSE NA 1 2.935 NA NA NA MYO9B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO9B NA NA NA ENSG00000099331 ENSE00003461596 missense_variant 7.217448 0.95272 0.91229 0.744818 0.999053012543117 0 0.999998877096737 TRUE 4.06134e-06 ENSE00000777964_012 ENSE00000777964 012 19 17296680 17296849 + 50 81 39 G A 17296785 1611 106 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCACTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 17185975 17185976 17185976 exon -26 0.691358024691358 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCACTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 2113 158 0.99896897822049 0.998754643778657 0.998861810999573 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00471299190793084 0.142729265330666 0.996884810173221 0.925140682380275 NA 0.0737211286192985 NA FALSE NA 1 6.523 . missense_variant MODERATE MYO9B HGNC 7609 ENST00000602177 6/7 1 NA CGC G,A 8.274e-06 19:17185976 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 missense_variant 7.774081 0.97499 0.95357 0.744818 0.999419709515892 0 0.999998877096737 TRUE 4.06154e-06 ENSE00000777964_013 ENSE00000777964 013 19 17296680 17296849 + 50 81 39 T G 17296831 1612 152 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTGGGGAGGAGAAGGCCCATG 17185870 17186040 17186021 17186022 17186022 downstr_intron 21 1.55263157894737 GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTGGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG mutant NA NA NA NA NA 707 78 0.997932001261444 0.974945688728363 0.986438844994903 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA 0.00367601494888492 0.118920310280372 0.996884810173221 0.925140682380275 NA 0.0612981626146285 NA FALSE NA 0 -5.375 . intron_variant MODIFIER MYO9B HGNC 7609 ENST00000602177 6/6 1 NA TTG T,G 8.268e-06 19:17186022 MYO9B HGNC Symbol protein_coding 138756 ENSG00000099331 ENSE00003461596 intron_variant -0.418501 0.07665 0.01013 0.069865 0.340230159574697 0.0809684 0.999998877096737 TRUE 1.62509e-05 ENSE00000777964_BRK ENSE00000777964 BRK 19 17296680 17296849 + 50 81 39 A,G; T,T NA NA NA GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACTTACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGCCGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG 17185870 17186040 NA NA NA NA NA NA GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACTTACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGCCGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG GCTGTCAGGGTCCCTGATTCAACCCAAATGCTTTCTCTTTCCCTTAACAGACATCCCTTAACAAGCTCTTGGAGGCACTGGGGAAGGCGGAGCCCTTCTTTATCCGCTGCATCCGTTCCAATGCTGAAAAGGTGAGTTTCTCTAAGGTGTTTGGGAGGAGAAGGCCCATG control NA NA NA NA NA 325 372 0 0 0 0.996335594866676 0.997434025479766 0.994255986312559 0.856025378447991 NA NA -0.994255986312559 -0.856025378447991 0.996884810173221 0.925140682380275 NA -0.925140682380275 NA TRUE NA NA NA NA NA NA MYO9B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO9B NA NA NA ENSG00000099331 ENSE00003461596 NA NA NA NA NA NA NA 0.999998877096737 TRUE NA ENSE00000780466_000 ENSE00000780466 000 19 38973620 38973789 + 47 87 36 NA NA NA NA NA CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG 38482979 38483149 NA NA NA NA NA NA CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG natural NA NA NA NA NA 660 686 0.875641303248672 0.992200125431478 0.933920714340075 NA NA 0.875641303248672 0.992200125431478 NA NA 0 0 NA 0.933920714340075 NA 0 NA FALSE NA NA NA NA NA NA RYR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RYR1 NA NA NA ENSG00000196218 ENSE00000780466 NA NA NA NA NA NA NA 1.60965844168568e-07 FALSE NA ENSE00000780466_010 ENSE00000780466 010 19 38973620 38973789 + 47 87 36 G A 38973697 2245 78 CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCATCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG 38482979 38483149 38483056 38483057 38483057 exon 31 0.35632183908046 CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCATCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG mutant NA NA NA NA NA 38 93 1 1 1 NA NA 0.875641303248672 0.992200125431478 NA NA 0.124358696751328 0.00779987456852227 NA 0.933920714340075 NA 0.0660792856599253 NA FALSE NA 0.62 1.793 . missense_variant MODERATE RYR1 HGNC 10483 ENST00000355481 32/105 COSM1224466 1 possibly_damaging(0.685) NA CGT G,A 1.647e-05 19:38483057 RYR1 HGNC Symbol protein_coding 153865 ENSG00000196218 ENSE00000780466 missense_variant 3.973627 0.98191 0.71614 0.646311 0.913146185108847 0 1.60965844168568e-07 FALSE 1.21842e-05 ENSE00000780466_BRK ENSE00000780466 BRK 19 38973620 38973789 + 47 87 36 A,G; T,T NA NA NA CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCTTGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGCCACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG 38482979 38483149 NA NA NA NA NA NA CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCTTGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGCCACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG CCTCCAGCCCACCCGTTTGCTCACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCATCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAG control 30 20 0 0 0 NA NA NA NA NA NA NA 0.875641303248672 0.992200125431478 NA NA NA NA NA 0.933920714340075 NA NA NA NA NA NA NA NA NA NA RYR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RYR1 NA NA NA ENSG00000196218 ENSE00000780466 NA NA NA NA NA NA NA 1.60965844168568e-07 FALSE NA ENSE00000780555_000 ENSE00000780555 000 3 176755844 176756013 - 42 75 53 NA NA NA NA NA AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC 177038055 177038225 NA NA NA NA NA NA AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC natural 391 529 0.811198342684961 0.845803744253904 0.828501043469432 4475 3860 0.954081299643412 0.959987589728496 0.957034444685954 0.811198342684961 0.845803744253904 0.954081299643412 0.959987589728496 0 0 0 0 0.828501043469432 0.957034444685954 0 0 0 FALSE FALSE NA NA NA NA NA TBL1XR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBL1XR1 NA NA NA ENSG00000177565 ENSE00000780555 NA NA NA NA NA NA NA 0.998821952425029 TRUE NA ENSE00000780555_BRK ENSE00000780555 BRK 3 176755844 176756013 - 42 75 53 A,G; T,T NA NA NA AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTTTAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGCCAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC 177038055 177038225 NA NA NA NA NA NA AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTTTAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGCCAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC control 22 34 0 0 0 NA NA NA NA NA 0.811198342684961 0.845803744253904 0.954081299643412 0.959987589728496 -0.811198342684961 -0.845803744253904 NA NA 0.828501043469432 0.957034444685954 -0.828501043469432 NA NA NA TRUE NA NA NA NA NA TBL1XR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBL1XR1 NA NA NA ENSG00000177565 ENSE00000780555 NA NA NA NA NA NA NA 0.998821952425029 TRUE NA ENSE00000780765_000 ENSE00000780765 000 3 179576818 179576987 - 32 96 42 NA NA NA NA NA GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 NA NA NA NA NA NA GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT natural 55 66 0.994036220641899 0.98720683830408 0.99062152947299 11456 10630 0.917363517375244 0.945321481980883 0.931342499678064 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 0 0 0 0 0.99062152947299 0.931342499678064 0 0 0 FALSE FALSE NA NA NA NA NA PEX5L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEX5L NA NA NA ENSG00000114757 ENSE00003485158 NA NA NA NA NA NA NA 0.664004906251205 FALSE NA ENSE00000780765_001 ENSE00000780765 001 3 179576818 179576987 - 32 96 42 A C 179576844 3648 144 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACGTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859055 179859056 179859056 downstr_intron 6 1.19354838709677 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACGTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 810 1851 0.753488903118078 0.952897432910349 0.853193168014214 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA -0.163874614257166 0.00757595092946595 0.99062152947299 0.931342499678064 NA -0.07814933166385 NA FALSE NA 0 -0.175 . splice_region_variant&intron_variant LOW PEX5L HGNC 30024 ENST00000392649 5/11 1 NA AAG A,C 2.471e-05 3:179859056 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 splice_region_variant 0.408598 0.47641 0.12654 0.061011 0.822811220974411 0.302437 0.664004906251205 FALSE 1.21959e-05 ENSE00000780765_002 ENSE00000780765 002 3 179576818 179576987 - 32 96 42 T C 179576846 3649 142 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAGCTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859057 179859058 179859058 downstr_intron 4 1.12903225806452 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAGCTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 635 1760 0.992926217781871 0.998007692239321 0.995466955010596 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0755627004066267 0.052686210258438 0.99062152947299 0.931342499678064 NA 0.0641244553325324 NA FALSE NA 0.918 1.014 . splice_region_variant&intron_variant LOW PEX5L HGNC 30024 ENST00000392649 5/11 1 NA GTT T,C 8.236e-06 3:179859058 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 splice_region_variant 1.216087 0.88427 0.37663 0.061011 0.896081281305242 0.429976 0.664004906251205 FALSE 4.06395e-06 ENSE00000780765_003 ENSE00000780765 003 3 179576818 179576987 - 32 96 42 G A 179576894 3650 94 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACTACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859105 179859106 179859106 exon -45 0.541666666666667 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACTACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 456 840 0.995261323556586 1 0.997630661778293 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0778978061813415 0.0546785180191169 0.99062152947299 0.931342499678064 NA 0.0662881621002292 NA FALSE NA 1 8.049 . missense_variant MODERATE PEX5L HGNC 30024 ENST00000392649 5/12 1 tolerated(0.13) benign(0.34) NA TGG G,A 8.236e-06 3:179859106 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 missense_variant 5.883347 0.99306 0.96496 0.553676 0.995992295338455 0 0.664004906251205 FALSE 4.06174e-06 ENSE00000780765_005 ENSE00000780765 005 3 179576818 179576987 - 32 96 42 T G 179576910 3652 78 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCCTTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859121 179859122 179859122 exon 36 0.375 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCCTTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 875 2480 0.996850795028692 0.997822275405885 0.997336535217289 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0794872776534483 0.0525007934250018 0.99062152947299 0.931342499678064 NA 0.0659940355392251 NA FALSE NA 0.003 -1.704 . synonymous_variant LOW PEX5L HGNC 30024 ENST00000392649 5/12 1 NA ATG T,G 8.236e-06 3:179859122 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 synonymous_variant 1.182283 0.20057 0.01882 0.553676 0.509670723959549 0 0.664004906251205 FALSE 4.0618e-06 ENSE00000780765_006 ENSE00000780765 006 3 179576818 179576987 - 32 96 42 C T 179576912 3653 76 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCACATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859123 179859124 179859124 exon 34 0.354166666666667 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCACATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 1673 3401 0.899836975721652 0.999245152061675 0.949541063891664 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA -0.0175265416535918 0.0539236700807918 0.99062152947299 0.931342499678064 NA 0.0181985642136 NA FALSE NA 0.922 0.863 . missense_variant MODERATE PEX5L HGNC 30024 ENST00000392649 5/12 rs201578066 1 tolerated(0.16) benign(0.009) NA GCG C,T 4.118e-05 3:179859124 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 missense_variant 3.396998 0.98102 0.49637 0.553676 0.98777437651812 0 0.664004906251205 FALSE 3.65574e-05 ENSE00000780765_007 ENSE00000780765 007 3 179576818 179576987 - 32 96 42 G A 179576913 3654 75 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGTGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859124 179859125 179859125 exon 33 0.34375 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGTGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 1075 1766 1 0.895850252669164 0.947925126334582 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0826364826247559 -0.0494712293117188 0.99062152947299 0.931342499678064 NA 0.0165826266565186 NA FALSE NA 0.806 -0.045 . synonymous_variant LOW PEX5L HGNC 30024 ENST00000392649 5/12 COSM1261963 1 NA CGC G,A 4.942e-05 3:179859125 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 synonymous_variant 1.106903 0.93054 0.09766 0.553676 0.838177087314626 0 0.664004906251205 FALSE 3.65577e-05 ENSE00000780765_008 ENSE00000780765 008 3 179576818 179576987 - 32 96 42 C T 179576923 3655 65 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCACTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859134 179859135 179859135 exon 23 0.239583333333333 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCACTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 607 700 0.909103268548938 0.878591207312614 0.893847237930776 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA -0.00826024882630649 -0.0667302746682695 0.99062152947299 0.931342499678064 NA -0.037495261747288 NA FALSE NA 1 4.758 rs188814073 missense_variant MODERATE PEX5L HGNC 30024 ENST00000392649 5/12 rs188814073&COSM1421087&COSM4115500 1 deleterious(0.01) benign(0.035) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 GCG C,T 3.295e-05 3:179859135 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 missense_variant 6.152376 0.98811 0.89307 0.553676 0.997104267875285 0 0.664004906251205 FALSE 2.43724e-05 ENSE00000780765_009 ENSE00000780765 009 3 179576818 179576987 - 32 96 42 G A 179576924 3656 64 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATTGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859135 179859136 179859136 exon 22 0.229166666666667 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATTGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 595 132 0.998192233200218 0.998799979748756 0.998496106474487 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0808287158249742 0.0534784977678733 0.99062152947299 0.931342499678064 NA 0.0671536067964237 NA FALSE NA 1 6.136 . missense_variant MODERATE PEX5L HGNC 30024 ENST00000392649 5/12 COSM1693838 1 deleterious(0) benign(0.035) NA CGA G,A 8.236e-06 3:179859136 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 missense_variant 5.803399 0.98752 0.92808 0.553676 0.999120965821564 0 0.664004906251205 FALSE 1.21864e-05 ENSE00000780765_011 ENSE00000780765 011 3 179576818 179576987 - 32 96 42 G A 179576939 3658 49 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGATTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859150 179859151 179859151 exon 7 0.0729166666666667 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGATTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 2767 1391 0.948787583496874 0.989593326347977 0.969190454922425 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0314240661216297 0.0442718443670937 0.99062152947299 0.931342499678064 NA 0.0378479552443617 NA FALSE NA 1 3.077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:179859151 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 synonymous_variant 0.921846 0.97907 0.78453 0.553676 0.775194166045475 0 0.664004906251205 FALSE 0.000674407 ENSE00000780765_012 ENSE00000780765 012 3 179576818 179576987 - 32 96 42 G C 179576939 3659 49 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGAGTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859150 179859151 179859151 exon 7 0.0729166666666667 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGAGTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 3487 2724 0.950116575661575 0.994668965408459 0.972392770535017 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0327530582863311 0.0493474834275754 0.99062152947299 0.931342499678064 NA 0.0410502708569533 NA FALSE NA 1 3.077 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEX5L NA NA NA ENSG00000114757 ENSE00003485158 missense_variant 1.607141 0.98077 0.87557 0.553676 0.988580538841346 0 0.664004906251205 FALSE 4.0627e-06 ENSE00000780765_013 ENSE00000780765 013 3 179576818 179576987 - 32 96 42 C T 179576941 3660 47 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCAACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859152 179859153 179859153 exon 5 0.0520833333333333 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCAACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 2521 2570 0.998959850707246 0.997284573752591 0.998122212229918 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.081596333332002 0.0519630917717077 0.99062152947299 0.931342499678064 NA 0.0667797125518548 NA FALSE NA 1 6.396 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:179859153 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 missense_variant 4.129954 0.99288 0.93996 0.553676 0.997955121556364 0 0.664004906251205 FALSE NA ENSE00000780765_014 ENSE00000780765 014 3 179576818 179576987 - 32 96 42 C A 179576941 3661 47 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCTACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859152 179859153 179859153 exon 5 0.0520833333333333 GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCTACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 1965 398 0.999628299927798 0.996473215730887 0.998050757829343 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0822647825525542 0.0511517337500041 0.99062152947299 0.931342499678064 NA 0.0667082581512792 NA FALSE NA 1 6.396 NA NA NA PEX5L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEX5L NA NA NA ENSG00000114757 ENSE00003485158 missense_variant 4.720093 0.99318 0.95277 0.553676 0.997741825958424 0 0.664004906251205 FALSE 2.03133e-05 ENSE00000780765_015 ENSE00000780765 015 3 179576818 179576987 - 32 96 42 C T 179576953 3662 35 GTGATTCTAATATTATAACACTATGTGTATGATTAATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859164 179859165 179859165 upstr_intron -8 -0.166666666666667 GTGATTCTAATATTATAACACTATGTGTATGATTAATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 2644 3386 0.957518490424926 0.824346753052647 0.890932621738787 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0401549730496822 -0.120974728928236 0.99062152947299 0.931342499678064 NA -0.0404098779392771 NA FALSE NA 0.846 0.183 . splice_region_variant&intron_variant LOW PEX5L HGNC 30024 ENST00000392649 4/11 rs199849965 1 NA TCA C,T 8.236e-06 3:179859165 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 splice_region_variant 0.147924 0.28548 0.14098 0.061011 0.527966221420624 0.247281 0.664004906251205 FALSE 4.06431e-06 ENSE00000780765_016 ENSE00000780765 016 3 179576818 179576987 - 32 96 42 A G 179576955 3663 33 GTGATTCTAATATTATAACACTATGTGTATGACTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859166 179859167 179859167 upstr_intron -10 -0.214285714285714 GTGATTCTAATATTATAACACTATGTGTATGACTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 921 1285 0.995819867201217 0.979719834373103 0.98776985078716 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0784563498259732 0.0343983523922202 0.99062152947299 0.931342499678064 NA 0.0564273511090967 NA FALSE NA 0.811 1.088 rs146238050 intron_variant MODIFIER PEX5L HGNC 30024 ENST00000392649 4/11 rs146238050 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 AAT A,G 1.647e-05 3:179859167 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 intron_variant 0.30818 0.21742 0.20988 0.061011 0.617054679436832 0.159937 0.664004906251205 FALSE 8.12869e-06 ENSE00000780765_017 ENSE00000780765 017 3 179576818 179576987 - 32 96 42 C T 179576961 3664 27 GTGATTCTAATATTATAACACTATGTATATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859172 179859173 179859173 upstr_intron -16 -0.357142857142857 GTGATTCTAATATTATAACACTATGTATATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 563 1903 0.996375143183069 0.998354894085955 0.997365018634512 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0790116258078248 0.0530334121050718 0.99062152947299 0.931342499678064 NA 0.0660225189564483 NA FALSE NA 0.949 0.327 . intron_variant MODIFIER PEX5L HGNC 30024 ENST00000392649 4/11 rs202217265 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACA C,T 8.236e-06 3:179859173 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 intron_variant -0.086928 0.15791 0.44033 0.061011 0.575377925231059 0.0821837 0.664004906251205 FALSE 4.06782e-06 ENSE00000780765_018 ENSE00000780765 018 3 179576818 179576987 - 32 96 42 T C 179576965 3665 23 GTGATTCTAATATTATAACACTGTGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859176 179859177 179859177 upstr_intron -20 -0.452380952380952 GTGATTCTAATATTATAACACTGTGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 1084 3062 0.812819980485735 0.998363061354011 0.905591520919873 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA -0.104543536889509 0.0530415793731281 0.99062152947299 0.931342499678064 NA -0.0257509787581905 NA FALSE NA 0 -1.73 . intron_variant MODIFIER PEX5L HGNC 30024 ENST00000392649 4/11 1 NA ATA T,C 8.237e-06 3:179859177 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 intron_variant -0.130762 0.18046 0.01187 0.061011 0.512504430037337 0.0821837 0.664004906251205 FALSE 4.0703e-06 ENSE00000780765_019 ENSE00000780765 019 3 179576818 179576987 - 32 96 42 G A 179576967 3666 21 GTGATTCTAATATTATAACATTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859178 179859179 179859179 upstr_intron -22 -0.5 GTGATTCTAATATTATAACATTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 1255 1861 0.997010842800073 1 0.998505421400037 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0796473254248291 0.0546785180191169 0.99062152947299 0.931342499678064 NA 0.067162921721973 NA FALSE NA 0 -0.175 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:179859179 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 intron_variant 0.086688 0.16795 0.01454 0.061011 0.776925512612857 0.135749 0.664004906251205 FALSE 4.0808e-06 ENSE00000780765_020 ENSE00000780765 020 3 179576818 179576987 - 32 96 42 G C 179576967 3667 21 GTGATTCTAATATTATAACAGTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859178 179859179 179859179 upstr_intron -22 -0.5 GTGATTCTAATATTATAACAGTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 949 415 0.999129456700553 0.995376155372958 0.997252806036756 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0817659393253091 0.0500546733920748 0.99062152947299 0.931342499678064 NA 0.0659103063586919 NA FALSE NA 0 -0.175 NA NA NA PEX5L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEX5L NA NA NA ENSG00000114757 ENSE00003485158 intron_variant -0.245078 0.18062 0.02829 0.061011 0.596268883162638 0.135749 0.664004906251205 FALSE 4.0808e-05 ENSE00000780765_021 ENSE00000780765 021 3 179576818 179576987 - 32 96 42 T C 179576973 3668 15 GTGATTCTAATATTGTAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 179859184 179859185 179859185 upstr_intron -28 -0.642857142857143 GTGATTCTAATATTGTAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT mutant NA NA NA NA NA 1377 1276 0.996454644399686 0.999422660748846 0.997938652574266 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 NA NA 0.0790911270244422 0.0541011787679628 0.99062152947299 0.931342499678064 NA 0.0665961528962025 NA FALSE NA 0.001 0.478 . intron_variant MODIFIER PEX5L HGNC 30024 ENST00000392649 4/11 1 NA ATA T,C 8.236e-06 3:179859185 PEX5L HGNC Symbol protein_coding 242095 ENSG00000114757 ENSE00003485158 intron_variant 0.085337 0.17187 0.07183 0.061011 0.542349558821795 0.0821837 0.664004906251205 FALSE 4.08857e-06 ENSE00000780765_BRK ENSE00000780765 BRK 3 179576818 179576987 - 32 96 42 A,G; T,T NA NA NA GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCTTGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGCCAACTTTTCTTCAAATTAGTTTTTTCTGTTT 179859029 179859199 NA NA NA NA NA NA GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCTTGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGCCAACTTTTCTTCAAATTAGTTTTTTCTGTTT GTGATTCTAATATTATAACACTATGTGTATGATTGATTTCAGGCTCGACTGACCAAAGAACATCGCTGGGGAAGCGCATTACTTTCTAGAAACCACTCCTTAGAAGAAGAGTTTGAAAGGGCAAAAGCAGCAGTGGAGGTAACTTTTCTTCAAATTAGTTTTTTCTGTTT control 230 92 0 0 0 553 1888 0.026355002411735 0.000338879308891536 0.0133469408603132 0.994036220641899 0.98720683830408 0.917363517375244 0.945321481980883 -0.994036220641899 -0.98720683830408 -0.891008514963509 -0.944982602671992 0.99062152947299 0.931342499678064 -0.99062152947299 -0.91799555881775 0.0726259706552393 TRUE TRUE NA NA NA NA NA PEX5L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEX5L NA NA NA ENSG00000114757 ENSE00003485158 NA NA NA NA NA NA NA 0.664004906251205 FALSE NA ENSE00000781177_000 ENSE00000781177 000 3 184093267 184093436 - 36 87 47 NA NA NA NA NA TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 NA NA NA NA NA NA TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT natural 68 84 0.884949205284211 0.947092390974119 0.916020798129165 755 663 0.964660182556043 0.992360565348367 0.978510373952205 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 0 0 0 0 0.916020798129165 0.978510373952205 0 0 0 FALSE FALSE NA NA NA NA NA CHRD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA THPO NA NA NA ENSG00000090534 ENSE00000781177 NA NA NA NA NA NA NA 0.00514022944754883 FALSE NA ENSE00000781177_001 ENSE00000781177 001 3 184093267 184093436 - 36 87 47 A C 184093281 3837 156 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCGTGGCTTCCCTAAGT 184375478 184375648 184375492 184375493 184375493 downstr_intron 22 1.62857142857143 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCGTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 113 108 1 1 1 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 0.00763943465163253 0.916020798129165 0.978510373952205 NA 0.0214896260477947 NA FALSE NA 0.001 0.311 . upstream_gene_variant MODIFIER CHRD HGNC 1949 ENST00000460627 1 NA AAG A,C 8.236e-06 3:184375493 THPO HGNC Symbol protein_coding 10033 ENSG00000090534 ENSE00000781177 intron_variant 0.218336 0.30828 0.11457 0.074388 0.781878153854694 0.0771118 0.00514022944754883 FALSE 4.06098e-06 ENSE00000781177_005 ENSE00000781177 005 3 184093267 184093436 - 36 87 47 C A 184093328 3841 109 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTATCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375539 184375540 184375540 exon -26 0.71264367816092 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTATCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 118 142 1 1 1 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 0.00763943465163253 0.916020798129165 0.978510373952205 NA 0.0214896260477947 NA FALSE NA 1 1.419 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:184375540 THPO HGNC Symbol protein_coding 10033 ENSG00000090534 ENSE00000781177 missense_variant 6.971232 0.9836 0.86231 0.653281 0.995355220974584 0 0.00514022944754883 FALSE 4.06078e-06 ENSE00000781177_006 ENSE00000781177 006 3 184093267 184093436 - 36 87 47 C T 184093328 3842 109 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAACTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375539 184375540 184375540 exon -26 0.71264367816092 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAACTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 91 952 1 0.998359829315973 0.999179914657987 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 0.00599926396760586 0.916020798129165 0.978510373952205 NA 0.0206695407057814 NA FALSE NA 1 1.419 NA NA NA CHRD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA THPO NA NA NA ENSG00000090534 ENSE00000781177 missense_variant 4.577959 0.98288 0.81527 0.653281 0.992483536132892 0 0.00514022944754883 FALSE NA ENSE00000781177_007 ENSE00000781177 007 3 184093267 184093436 - 36 87 47 A G 184093330 3843 107 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTCAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375541 184375542 184375542 exon -28 0.689655172413793 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTCAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 11 84 1 0.923332351139185 0.961666175569593 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 -0.0690282142091825 0.916020798129165 0.978510373952205 NA -0.0168441983826128 NA FALSE NA 0.975 -0.133 . upstream_gene_variant MODIFIER CHRD HGNC 1949 ENST00000460627 rs530014873 1 NA TAA A,G 8.236e-05 3:184375542 THPO HGNC Symbol protein_coding 10033 ENSG00000090534 ENSE00000781177 synonymous_variant 0.928365 0.94318 0.09283 0.653281 0.79329070609555 0 0.00514022944754883 FALSE 4.46671e-05 ENSE00000781177_015 ENSE00000781177 015 3 184093267 184093436 - 36 87 47 G A 184093405 3851 32 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACTAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375616 184375617 184375617 upstr_intron -16 -0.319148936170213 TCTCTCTATTTCAGCTCCCTTCTCCCCCCACTAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 364 82 1 1 1 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 0.00763943465163253 0.916020798129165 0.978510373952205 NA 0.0214896260477947 NA FALSE NA 0.637 0.511 . upstream_gene_variant MODIFIER CHRD HGNC 1949 ENST00000460627 1 NA TGG G,A 1.647e-05 3:184375617 THPO HGNC Symbol protein_coding 10033 ENSG00000090534 ENSE00000781177 intron_variant 0.219444 0.16969 0.20848 0.074388 0.343432435665238 0.167103 0.00514022944754883 FALSE 8.12348e-06 ENSE00000781177_016 ENSE00000781177 016 3 184093267 184093436 - 36 87 47 T C 184093407 3852 30 TCTCTCTATTTCAGCTCCCTTCTCCCCCCGCCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375618 184375619 184375619 upstr_intron -18 -0.361702127659574 TCTCTCTATTTCAGCTCCCTTCTCCCCCCGCCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 12 214 1 1 1 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 0.00763943465163253 0.916020798129165 0.978510373952205 NA 0.0214896260477947 NA FALSE NA 0.027 -0.317 . upstream_gene_variant MODIFIER CHRD HGNC 1949 ENST00000460627 1 NA GTG T,C 8.236e-06 3:184375619 THPO HGNC Symbol protein_coding 10033 ENSG00000090534 ENSE00000781177 intron_variant -0.068991 0.18487 0.088 0.074388 0.697814241804371 0.131471 0.00514022944754883 FALSE 4.06276e-06 ENSE00000781177_019 ENSE00000781177 019 3 184093267 184093436 - 36 87 47 G T 184093409 3855 28 TCTCTCTATTTCAGCTCCCTTCTCCCCACACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375620 184375621 184375621 upstr_intron -20 -0.404255319148936 TCTCTCTATTTCAGCTCCCTTCTCCCCACACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 56 70 1 0.860893706088442 0.930446853044221 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 -0.131466859259925 0.916020798129165 0.978510373952205 NA -0.0480635209079842 NA FALSE NA 0.117 0.955 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:184375621 THPO HGNC Symbol protein_coding 10033 ENSG00000090534 ENSE00000781177 intron_variant -0.09421 0.23972 0.16199 0.074388 0.680546928528889 0.0949176 0.00514022944754883 FALSE 2.84428e-05 ENSE00000781177_020 ENSE00000781177 020 3 184093267 184093436 - 36 87 47 G C 184093409 3856 28 TCTCTCTATTTCAGCTCCCTTCTCCCCGCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375620 184375621 184375621 upstr_intron -20 -0.404255319148936 TCTCTCTATTTCAGCTCCCTTCTCCCCGCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 111 193 1 1 1 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 0.00763943465163253 0.916020798129165 0.978510373952205 NA 0.0214896260477947 NA FALSE NA 0.117 0.955 NA NA NA CHRD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA THPO NA NA NA ENSG00000090534 ENSE00000781177 intron_variant -0.152987 0.24252 0.12827 0.074388 0.727163104989107 0.0949176 0.00514022944754883 FALSE 8.12651e-06 ENSE00000781177_021 ENSE00000781177 021 3 184093267 184093436 - 36 87 47 G A 184093418 3857 19 TCTCTCTATTTCAGCTCCTTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375629 184375630 184375630 upstr_intron -29 -0.595744680851064 TCTCTCTATTTCAGCTCCTTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 22 72 1 0.8 0.9 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0353398174439569 -0.192360565348367 0.916020798129165 0.978510373952205 NA -0.0785103739522053 NA FALSE NA 0 -0.459 . upstream_gene_variant MODIFIER CHRD HGNC 1949 ENST00000459711 1 NA AGG G,A 8.236e-06 3:184375630 THPO HGNC Symbol protein_coding 10033 ENSG00000090534 ENSE00000781177 intron_variant 0.386628 0.13808 0.00541 0.074388 0.678045465120155 0.0520435 0.00514022944754883 FALSE 4.06583e-06 ENSE00000781177_022 ENSE00000781177 022 3 184093267 184093436 - 36 87 47 G T 184093420 3858 17 TCTCTCTATTTCAGCTACCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT 184375478 184375648 184375631 184375632 184375632 upstr_intron -31 -0.638297872340426 TCTCTCTATTTCAGCTACCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT TCTCTCTATTTCAGCTCCCTTCTCCCCCCACCAATCTTTTTCAACAGAGCCAGTGCCCAGAGGTTCACCCTTTGCCTACACCTGTCCTGCTGCCTGCTGTGGACTTTAGCTTGGGAGAATGGAAAACCCAGATGGTAAGAAAGCCATCCCTAACCTTGGCTTCCCTAAGT mutant NA NA NA NA NA 50 219 0.995810548949701 1 0.99790527447485 0.884949205284211 0.947092390974119 0.964660182556043 0.992360565348367 NA NA 0.0311503663936574 0.00763943465163253 0.916020798129165 0.978510373952205 NA 0.019394900522645 NA FALSE NA 0 -0.185 . upstream_gene_variant MODIFIER CHRD HGNC 1949 ENST00000459711 1 NA GGA G,T 4.118e-05 3:184375632 THPO HGNC Symbol protein_coding 10033 ENSG00000090534 ENSE00000781177 intron_variant -0.040507 0.20907 0.08374 0.074388 0.734719319224359 0.0520435 0.00514022944754883 FALSE 4.06719e-05 ENSE00000781704_000 ENSE00000781704 000 3 193854364 193854533 + 42 96 32 NA NA NA NA NA ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 NA NA NA NA NA NA GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT natural 214 187 0.98491399292749 0.992764184069717 0.988839088498604 3110 4575 0.993609998345338 0.986694853403519 0.990152425874429 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 0 0 0 0 0.988839088498604 0.990152425874429 0 0 0 FALSE FALSE NA NA NA NA NA HES1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HES1 NA NA NA ENSG00000114315 ENSE00000781704 NA NA NA NA NA NA NA 0.644078951582769 FALSE NA ENSE00000781704_001 ENSE00000781704 001 3 193854364 193854533 + 42 96 32 G T 193854384 4178 21 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTATGTGTTCCCATGGAATCTGC 194136574 194136744 194136594 194136595 194136595 upstr_intron -22 -0.5 GCAGATTCCATGGGAACACATAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 208 44 1 1 1 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA 0.00639000165466197 0.013305146596481 0.988839088498604 0.990152425874429 NA 0.00984757412557147 NA FALSE NA 0.078 0.012 . intron_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 1/1 1 NA AGA G,T 8.237e-06 3:194136595 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 intron_variant 0.220803 0.48875 0.14585 0.110573 0.727691735449044 0.936449 0.644078951582769 FALSE 4.19731e-06 ENSE00000781704_002 ENSE00000781704 002 3 193854364 193854533 + 42 96 32 T C 193854393 4179 30 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAGAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136603 194136604 194136604 upstr_intron -13 -0.285714285714286 GCAGATTCCATGGGAACACAGAACTCTTTCTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 497 402 0.935274822809423 0.995522885912826 0.965398854361124 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA -0.0583351755359152 0.00882803250930675 0.988839088498604 0.990152425874429 NA -0.0247535715133042 NA FALSE NA 0 -0.304 . intron_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 1/1 1 NA TTT T,C 8.237e-06 3:194136604 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 intron_variant 0.640501 0.21637 0.16114 0.206829 0.794833883602307 0.309035 0.644078951582769 FALSE 4.19727e-06 ENSE00000781704_006 ENSE00000781704 006 3 193854364 193854533 + 42 96 32 A G 193854428 4183 65 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTCTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136638 194136639 194136639 exon 23 0.239583333333333 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAGAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 29 527 1 0.991423101128209 0.995711550564105 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA 0.00639000165466197 0.00472824772469027 0.988839088498604 0.990152425874429 NA 0.00555912468967612 NA FALSE NA 1 9.055 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 2/2 1 NA AAA A,G 8.236e-06 3:194136639 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 missense_variant 5.615661 0.95612 0.93858 0.766844 0.998996368782775 0 0.644078951582769 FALSE 4.06706e-06 ENSE00000781704_007 ENSE00000781704 007 3 193854364 193854533 + 42 96 32 G A 193854431 4184 68 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTTTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136641 194136642 194136642 exon 26 0.270833333333333 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAAACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 1237 584 0.866733359637756 1 0.933366679818878 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA -0.126876638707582 0.013305146596481 0.988839088498604 0.990152425874429 NA -0.0567857460555505 NA FALSE NA 1 9.566 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 2/2 1 NA AGA G,A 8.236e-06 3:194136642 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 missense_variant 6.223948 0.96468 0.9431 0.766844 0.99690339278522 0 0.644078951582769 FALSE 4.06425e-06 ENSE00000781704_008 ENSE00000781704 008 3 193854364 193854533 + 42 96 32 A G 193854449 4185 86 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCACTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136659 194136660 194136660 exon 44 0.458333333333333 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAGTGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 846 104 0.943894544811391 1 0.971947272405695 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA -0.049715453533947 0.013305146596481 0.988839088498604 0.990152425874429 NA -0.018205153468733 NA FALSE NA 1 9.055 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 2/2 1 NA AAT A,G 8.236e-06 3:194136660 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 missense_variant 5.034942 0.95469 0.9435 0.766844 0.998661607028972 0 0.644078951582769 FALSE 4.06121e-06 ENSE00000781704_009 ENSE00000781704 009 3 193854364 193854533 + 42 96 32 G C 193854459 4186 96 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTGAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136669 194136670 194136670 exon -43 0.5625 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTCAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 1153 704 0.997802194938623 0.998856640684284 0.998329417811454 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA 0.00419219659328529 0.012161787280765 0.988839088498604 0.990152425874429 NA 0.00817699193702515 NA FALSE NA 0.999 0.442 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 2/2 rs200519788 1 NA TGA G,C 4.118e-05 3:194136670 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 synonymous_variant 0.484491 0.84092 0.67819 0.766844 0.815119350113717 0 0.644078951582769 FALSE 3.24876e-05 ENSE00000781704_012 ENSE00000781704 012 3 193854364 193854533 + 42 96 32 G A 193854484 4189 121 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAGCATTCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136694 194136695 194136695 exon -18 0.822916666666667 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGAATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 251 245 1 0.976725400488194 0.988362700244097 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA 0.00639000165466197 -0.00996945291532481 0.988839088498604 0.990152425874429 NA -0.00178972563033142 NA FALSE NA 1 9.598 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 2/2 1 NA GGA G,A 8.236e-06 3:194136695 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 missense_variant 6.590227 0.96101 0.97994 0.766844 0.998455273210396 0 0.644078951582769 FALSE 4.06154e-06 ENSE00000781704_013 ENSE00000781704 013 3 193854364 193854533 + 42 96 32 C T 193854488 4190 125 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACATCTTTCTTCAGAACATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136698 194136699 194136699 exon -14 0.864583333333333 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGTTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 410 546 0.997360667691926 0.99738408343472 0.997372375563323 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA 0.00375066934658774 0.010689230031201 0.988839088498604 0.990152425874429 NA 0.00721994968889439 NA FALSE NA 1 7.611 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 2/2 1 NA GCT C,T 1.647e-05 3:194136699 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 missense_variant 6.885952 0.96027 0.97071 0.766844 0.999070577651327 0 0.644078951582769 FALSE 1.21863e-05 ENSE00000781704_015 ENSE00000781704 015 3 193854364 193854533 + 42 96 32 T C 193854501 4192 138 ATTAAAAGAGCGAGCAGCATTTCCCCACTTACGTCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136711 194136712 194136712 exon -1 1 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGACGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 1328 447 0.998345908446174 0.995582919145987 0.99696441379608 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA 0.00473591010083585 0.0088880657424677 0.988839088498604 0.990152425874429 NA 0.00681198792165177 NA FALSE NA 1 1.311 rs140499194 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HES1 HGNC 5192 ENST00000476918 2/2 rs140499194 1 NA C:0 C:0.0001 ATG T,C 8.236e-06 3:194136712 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 splice_region_variant 0.834374 0.87483 0.73142 0.766844 0.854407773599131 0 0.644078951582769 FALSE 1.62524e-05 ENSE00000781704_017 ENSE00000781704 017 3 193854364 193854533 + 42 96 32 G A 193854508 4194 145 ATTAAAAGAGCGAGCAGCATTTCCCTACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136718 194136719 194136719 downstr_intron 7 1.2258064516129 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTAGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 1258 326 0.997707268932362 0.999060587885707 0.998383928409034 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA 0.00409727058702392 0.0123657344821877 0.988839088498604 0.990152425874429 NA 0.00823150253460581 NA FALSE NA 0.96 0.257 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:194136719 HES1 HGNC Symbol protein_coding 2587 ENSG00000114315 ENSE00000781704 splice_region_variant 0.904748 0.85761 0.10627 0.110573 0.897651071245839 0.326923 0.644078951582769 FALSE 8.13107e-06 ENSE00000781704_018 ENSE00000781704 018 3 193854364 193854533 + 42 96 32 G C 193854508 4195 145 ATTAAAAGAGCGAGCAGCATTTCCCGACTTACATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGACTGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 194136718 194136719 194136719 downstr_intron 7 1.2258064516129 GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTCGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT mutant NA NA NA NA NA 1329 1151 0.998973626716235 0.9937680702742 0.996370848495217 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 NA NA 0.00536362837089677 0.00707321687068085 0.988839088498604 0.990152425874429 NA 0.00621842262078881 NA FALSE NA 0.96 0.257 NA NA NA HES1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HES1 NA NA NA ENSG00000114315 ENSE00000781704 splice_region_variant 0.665718 0.86295 0.25364 0.110573 0.814845577122794 0.326923 0.644078951582769 FALSE 4.06554e-06 ENSE00000781704_BRK ENSE00000781704 BRK 3 193854364 193854533 + 42 96 32 A,G; T,T NA NA NA ATTAAAAGAGCGAGCAGCATTTCCCCACTTGGATCTTTCTTCAGAGCATCCAAAATCAGTGTTTTCAGCTGGCTCAGACTTTCATTTATTCTTGCTCTTCGTCTTTTCTCCATAATAGGCTTTGATGAAAGCAAATAAAAAAAAGAGTTCTGTGTTCCCATGGAATCTGC 194136574 194136744 NA NA NA NA NA NA GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCTTTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATCCAAGTGGGGAAATGCTGCTCGCTCTTTTAAT GCAGATTCCATGGGAACACAGAACTCTTTTTTTTATTTGCAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATGTAAGTGGGGAAATGCTGCTCGCTCTTTTAAT control 84 53 0 0 0 NA NA NA NA NA 0.98491399292749 0.992764184069717 0.993609998345338 0.986694853403519 -0.98491399292749 -0.992764184069717 NA NA 0.988839088498604 0.990152425874429 -0.988839088498604 NA NA NA TRUE NA NA NA NA NA HES1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HES1 NA NA NA ENSG00000114315 ENSE00000781704 NA NA NA NA NA NA NA 0.644078951582769 FALSE NA ENSE00000783937_000 ENSE00000783937 000 2 191865765 191865934 - 35 90 45 NA NA NA NA NA TTCAGAATAAATGCATGTGTTTACTCAATACTCACCATAACCTTGTCCTTCACATTTCTGACTTTACTGTCAAGCTCTTTCTGTTTGTCTAACATCACTGTGCTCTGAATATTCCCCGACTGAGCCTGTAATGGGAAGGGCATGATTATAGCCATCGTTTTCTTCAGGGT 191001038 191001208 NA NA NA NA NA NA ACCCTGAAGAAAACGATGGCTATAATCATGCCCTTCCCATTACAGGCTCAGTCGGGGAATATTCAGAGCACAGTGATGTTAGACAAACAGAAAGAGCTTGACAGTAAAGTCAGAAATGTGAAGGACAAGGTTATGGTGAGTATTGAGTAAACACATGCATTTATTCTGAA ACCCTGAAGAAAACGATGGCTATAATCATGCCCTTCCCATTACAGGCTCAGTCGGGGAATATTCAGAGCACAGTGATGTTAGACAAACAGAAAGAGCTTGACAGTAAAGTCAGAAATGTGAAGGACAAGGTTATGGTGAGTATTGAGTAAACACATGCATTTATTCTGAA natural 46 62 0.825794711841088 0.832165825697926 0.828980268769507 1310 3105 0.522301515128516 0.654428582325363 0.58836504872694 0.825794711841088 0.832165825697926 0.522301515128516 0.654428582325363 0 0 0 0 0.828980268769507 0.58836504872694 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00000783937 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000784987_000 ENSE00000784987 000 2 207437789 207437958 + 50 81 39 NA NA NA NA NA TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 NA NA NA NA NA NA TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT natural 57 54 0.995917286107473 0.99937070954716 0.997643997827316 3900 3042 0.77815065217142 0.839686099773179 0.8089183759723 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 0 0 0 0 0.997643997827316 0.8089183759723 0 0 0 FALSE FALSE NA NA NA NA NA ADAM23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM23 NA NA NA ENSG00000114948 ENSE00000784987 NA NA NA NA NA NA NA 0.995404041331662 TRUE NA ENSE00000784987_001 ENSE00000784987 001 2 207437789 207437958 + 50 81 39 G C 207437802 4266 14 TCTGAAATATTATCTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573077 206573078 206573078 upstr_intron -37 -0.72 TCTGAAATATTATCTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 2749 1414 0.979028951366128 0.9974848054871 0.988256878426614 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.200878299194708 0.157798705713921 0.997643997827316 0.8089183759723 NA 0.179338502454315 NA FALSE NA 0 -0.309 . intron_variant MODIFIER ADAM23 HGNC 202 ENST00000374415 17/25 rs367922469 1 NA C:0 C:0.0002 TGT G,C 4.118e-05 2:206573078 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 intron_variant -0.679877 0.19153 0.01921 0.164513 0.43759774083863 0.0617405 0.995404041331662 TRUE 3.25037e-05 ENSE00000784987_002 ENSE00000784987 002 2 207437789 207437958 + 50 81 39 A G 207437820 4267 32 TCTGAAATATTATGTAATGCTAACTCTTAATGTTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573095 206573096 206573096 upstr_intron -19 -0.36 TCTGAAATATTATGTAATGCTAACTCTTAATGTTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 588 346 0.998379045523991 0.997542894355831 0.997960969939911 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.220228393352571 0.157856794582652 0.997643997827316 0.8089183759723 NA 0.189042593967611 NA FALSE NA 0 0.043 . intron_variant MODIFIER ADAM23 HGNC 202 ENST00000374415 17/25 1 NA TAT A,G 8.236e-06 2:206573096 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 intron_variant -0.162058 0.21117 0.01947 0.164513 0.547373848072595 0.147431 0.995404041331662 TRUE 1.21861e-05 ENSE00000784987_004 ENSE00000784987 004 2 207437789 207437958 + 50 81 39 T G 207437833 4269 45 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATGTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573108 206573109 206573109 upstr_intron -6 -0.1 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATGTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 2806 626 0.995796086969141 0.9995733067024 0.997684696835771 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.217645434797722 0.159887206929221 0.997643997827316 0.8089183759723 NA 0.188766320863471 NA FALSE NA 0.998 1.284 . splice_region_variant&intron_variant LOW ADAM23 HGNC 202 ENST00000374415 17/25 1 NA TTT T,G 1.647e-05 2:206573109 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 splice_region_variant 0.767446 0.98466 0.92333 0.164513 0.725300826244001 0.822208 0.995404041331662 TRUE 2.84299e-05 ENSE00000784987_007 ENSE00000784987 007 2 207437789 207437958 + 50 81 39 C T 207437862 4272 74 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGTCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573137 206573138 206573138 exon 24 0.296296296296296 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGTCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 279 755 0.997615764606739 0.993252060453324 0.995433912530032 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.21946511243532 0.153565960680145 0.997643997827316 0.8089183759723 NA 0.186515536557732 NA FALSE NA 1 0.203 . synonymous_variant LOW ADAM23 HGNC 202 ENST00000374415 18/26 1 NA GCC C,T 8.236e-06 2:206573138 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 synonymous_variant 1.808084 0.93451 0.15688 0.706298 0.548865394089755 0 0.995404041331662 TRUE 4.06154e-06 ENSE00000784987_008 ENSE00000784987 008 2 207437789 207437958 + 50 81 39 C A 207437870 4273 82 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGATGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573145 206573146 206573146 exon 32 0.395061728395062 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGATGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 291 355 0.995760031418098 0.999892725990677 0.997826378704388 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.217609379246678 0.160206626217498 0.997643997827316 0.8089183759723 NA 0.188908002732088 NA FALSE NA 1 4.881 . missense_variant MODERATE ADAM23 HGNC 202 ENST00000374415 18/26 COSM3576818&COSM3576819&COSM3576820 1 deleterious(0.01) possibly_damaging(0.477) NA GCT C,A 8.236e-06 2:206573146 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 missense_variant 7.036652 0.98459 0.95041 0.706298 0.997586787982157 0 0.995404041331662 TRUE 4.06131e-06 ENSE00000784987_010 ENSE00000784987 010 2 207437789 207437958 + 50 81 39 A G 207437895 4275 107 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAGTATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573170 206573171 206573171 exon -25 0.703703703703704 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAGTATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 103 77 1 1 1 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.22184934782858 0.160313900226821 0.997643997827316 0.8089183759723 NA 0.191081624027701 NA FALSE NA 1 0.431 . synonymous_variant LOW ADAM23 HGNC 202 ENST00000374415 18/26 rs578062105 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAT A,G 8.236e-06 2:206573171 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 synonymous_variant 0.991052 0.84154 0.36283 0.706298 0.597580111687626 0 0.995404041331662 TRUE 4.06108e-06 ENSE00000784987_011 ENSE00000784987 011 2 207437789 207437958 + 50 81 39 T G 207437904 4276 116 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACGGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573179 206573180 206573180 exon -16 0.814814814814815 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACGGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 972 1692 1 0.991779650661312 0.995889825330656 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.22184934782858 0.152093550888133 0.997643997827316 0.8089183759723 NA 0.186971449358357 NA FALSE NA 0.969 -0.311 . synonymous_variant LOW ADAM23 HGNC 202 ENST00000374415 18/26 1 NA CTG T,G 8.236e-06 2:206573180 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 synonymous_variant 1.157178 0.94508 0.56914 0.706298 0.707108295244374 0 0.995404041331662 TRUE 4.06134e-06 ENSE00000784987_012 ENSE00000784987 012 2 207437789 207437958 + 50 81 39 C T 207437910 4277 122 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGATTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573185 206573186 206573186 exon -10 0.888888888888889 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGATTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 314 340 1 0.994081071524539 0.997040535762269 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.22184934782858 0.154394971751359 0.997643997827316 0.8089183759723 NA 0.18812215978997 NA FALSE NA 1 1.077 . synonymous_variant LOW ADAM23 HGNC 202 ENST00000374415 18/26 1 NA ACT C,T 8.236e-06 2:206573186 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 synonymous_variant 1.606565 0.9749 0.77009 0.706298 0.622960519584753 0 0.995404041331662 TRUE 8.12295e-06 ENSE00000784987_015 ENSE00000784987 015 2 207437789 207437958 + 50 81 39 G A 207437927 4280 139 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCACACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573202 206573203 206573203 downstr_intron 8 1.21052631578947 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCACACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 629 40 0.999541111121804 0.806281494276245 0.902911302699025 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.221390458950385 -0.0334046054969337 0.997643997827316 0.8089183759723 NA 0.0939929267267254 NA FALSE NA 0.018 0.351 . splice_region_variant&intron_variant LOW ADAM23 HGNC 202 ENST00000374415 18/25 rs368777911 1 NA A:0.0002 A:0.0001 CGC G,A 1.647e-05 2:206573203 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 splice_region_variant 0.030031 0.1002 0.00149 0.074636 0.410597168633402 0.169835 0.995404041331662 TRUE 8.12427e-06 ENSE00000784987_016 ENSE00000784987 016 2 207437789 207437958 + 50 81 39 T A 207437931 4281 143 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACAGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 206573206 206573207 206573207 downstr_intron 12 1.31578947368421 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACAGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 398 1347 0.999896553886387 0.999233501866606 0.999565027876497 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.221745901714967 0.159547402093427 0.997643997827316 0.8089183759723 NA 0.190646651904197 NA FALSE NA 0.009 0.979 . intron_variant MODIFIER ADAM23 HGNC 202 ENST00000374415 18/25 rs372787299 1 NA A:0 A:0.0002 CTG T,A 0.0001318 2:206573207 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 intron_variant 0.558063 0.20445 0.10144 0.074636 0.402998311044326 0.155319 0.995404041331662 TRUE 9.74888e-05 ENSE00000784987_017 ENSE00000784987 017 2 207437789 207437958 + 50 81 39 G C 207437940 4282 152 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTCGTAATACATTTTACTTGT 206573064 206573234 206573215 206573216 206573216 downstr_intron 21 1.55263157894737 TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTCGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT mutant NA NA NA NA NA 1451 2944 0.990474324147072 0.998479667314447 0.99447699573076 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 NA NA 0.212323671975652 0.158793567541268 0.997643997827316 0.8089183759723 NA 0.18555861975846 NA FALSE NA 0 -0.303 . intron_variant MODIFIER ADAM23 HGNC 202 ENST00000374415 18/25 1 NA TGG G,C 8.236e-06 2:206573216 ADAM23 HGNC Symbol protein_coding 177591 ENSG00000114948 ENSE00000784987 intron_variant -0.13761 0.20384 0.02935 0.074636 0.469879250867505 0.0666035 0.995404041331662 TRUE 8.12526e-06 ENSE00000784987_BRK ENSE00000784987 BRK 2 207437789 207437958 + 50 81 39 A,G; T,T NA NA NA TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCTTTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGCCATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT 206573064 206573234 NA NA NA NA NA NA TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCTTTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGCCATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT TCTGAAATATTATGTAATGCTAACTCTTAATATTGAATTTTGATTTGCAGTTTCAGCCACGAGGGTATGAATGCCGGGATGCTGTGAACGAGTGTGATATTACTGAATATTGTACTGGAGACTCTGGTCAGGTATGGCGCACTGAGTTTTTGGTAATACATTTTACTTGT control 17 24 0.953426527953223 0.990527451206536 0.971976989579879 176 1604 0.987430458330421 0.994679503601761 0.991054980966091 0.995917286107473 0.99937070954716 0.77815065217142 0.839686099773179 -0.0424907581542504 -0.00884325834062405 0.209279806159001 0.154993403828582 0.997643997827316 0.8089183759723 -0.0256670082474372 0.182136604993791 0.207803613241229 FALSE FALSE NA NA NA NA NA ADAM23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM23 NA NA NA ENSG00000114948 ENSE00000784987 NA NA NA NA NA NA NA 0.995404041331662 TRUE NA ENSE00000785388_000 ENSE00000785388 000 2 211527794 211527963 + 53 75 42 NA NA NA NA NA TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 NA NA NA NA NA NA TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT natural NA NA NA NA NA 509 193 0.955156507155927 0.953352246168549 0.954254376662238 NA NA 0.955156507155927 0.953352246168549 NA NA 0 0 NA 0.954254376662238 NA 0 NA FALSE NA NA NA NA NA NA CPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPS1 NA NA NA ENSG00000021826 ENSE00000785388 NA NA NA NA NA NA NA 0.0833573677195577 FALSE NA ENSE00000785388_001 ENSE00000785388 001 2 211527794 211527963 + 53 75 42 C T 211527806 4381 13 TTTCTACTTTTCTCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663081 210663082 210663082 upstr_intron -41 -0.754716981132076 TTTCTACTTTTCTCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 125 41 0.999670307326776 1 0.999835153663388 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0445138001708496 0.0466477538314515 NA 0.954254376662238 NA 0.0455807770011505 NA FALSE NA 0.014 1.298 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 33/38 1 NA CCC C,T 8.257e-06 2:210663082 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 intron_variant -0.272938 0.22998 0.00204 0.074636 0.593957637563425 0.152245 0.0833573677195577 FALSE NA ENSE00000785388_002 ENSE00000785388 002 2 211527794 211527963 + 53 75 42 C A 211527807 4382 14 TTTCTACTTTTCCATCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663082 210663083 210663083 upstr_intron -40 -0.735849056603774 TTTCTACTTTTCCATCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 14 70 0.927013108300294 0.997733918026196 0.962373513163245 NA NA 0.955156507155927 0.953352246168549 NA NA -0.028143398855633 0.0443816718576475 NA 0.954254376662238 NA 0.00811913650100726 NA FALSE NA 0.007 0.334 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 33/38 1 NA CCT C,A 8.257e-06 2:210663083 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 intron_variant -0.259917 0.39463 0.18839 0.074636 0.596774605439118 0.211455 0.0833573677195577 FALSE NA ENSE00000785388_003 ENSE00000785388 003 2 211527794 211527963 + 53 75 42 C A 211527809 4383 16 TTTCTACTTTTCCCTAACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663084 210663085 210663085 upstr_intron -38 -0.69811320754717 TTTCTACTTTTCCCTAACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 27 182 0.857142966452198 0.966906864460985 0.912024915456591 NA NA 0.955156507155927 0.953352246168549 NA NA -0.0980135407037288 0.0135546182924362 NA 0.954254376662238 NA -0.0422294612056463 NA FALSE NA 0 0.195 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 33/38 1 NA TCA C,A 2.478e-05 2:210663085 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 intron_variant -0.242597 0.28697 0.0398 0.074636 0.610130547483641 0.217475 0.0833573677195577 FALSE 2.07514e-05 ENSE00000785388_004 ENSE00000785388 004 2 211527794 211527963 + 53 75 42 T C 211527813 4384 20 TTTCTACTTTTCCCTCACACAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663088 210663089 210663089 upstr_intron -34 -0.622641509433962 TTTCTACTTTTCCCTCACACAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 28 52 0.966352360673093 0.959640911896907 0.962996636285 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0111958535171662 0.00628866572835818 NA 0.954254376662238 NA 0.00874225962276221 NA FALSE NA 0 0.567 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 33/38 1 NA ATA T,C 8.274e-06 2:210663089 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 intron_variant -0.540205 0.23911 0.03479 0.074636 0.595252069963513 0.225245 0.0833573677195577 FALSE 2.13425e-05 ENSE00000785388_006 ENSE00000785388 006 2 211527794 211527963 + 53 75 42 T G 211527830 4386 37 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTGTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663105 210663106 210663106 upstr_intron -17 -0.30188679245283 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTGTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 396 414 0.979108560279391 1 0.989554280139696 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0239520531234647 0.0466477538314515 NA 0.954254376662238 NA 0.0352999034774581 NA FALSE NA 0 -0.485 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 33/38 rs532757361 1 G:0.0020 G:0.0068 G:0.0014 NA G:0 G:0 G:0 TTT T,G 0.0006985 2:210663106 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 intron_variant -0.577458 0.25326 0.1623 0.074636 0.56251166608549 0.152245 0.0833573677195577 FALSE 0.000659825 ENSE00000785388_007 ENSE00000785388 007 2 211527794 211527963 + 53 75 42 T C 211527832 4387 39 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTCTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663107 210663108 210663108 upstr_intron -15 -0.264150943396226 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTCTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 476 123 0.931999023895756 0.999689994315282 0.965844509105519 NA NA 0.955156507155927 0.953352246168549 NA NA -0.0231574832601705 0.0463377481467333 NA 0.954254376662238 NA 0.0115901324432814 NA FALSE NA 0.002 1.009 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 33/38 rs552764351 1 C:0.0020 C:0.0076 C:0 NA C:0 C:0 C:0 TTT T,C 0.0004449 2:210663108 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 intron_variant -0.8633 0.31001 0.67869 0.074636 0.562835598868568 0.152245 0.0833573677195577 FALSE 0.000419774 ENSE00000785388_008 ENSE00000785388 008 2 211527794 211527963 + 53 75 42 A T 211527843 4388 50 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCATCAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663118 210663119 210663119 upstr_intron -4 -0.0566037735849057 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCATCAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 102 24 0.819697541464392 0.8 0.809848770732196 NA NA 0.955156507155927 0.953352246168549 NA NA -0.135458965691535 -0.153352246168548 NA 0.954254376662238 NA -0.144405605930042 NA FALSE NA 0.58 1.193 . splice_region_variant&intron_variant LOW CPS1 HGNC 2323 ENST00000430249 33/38 rs199854797 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 AAC A,T 8.237e-06 2:210663119 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 splice_region_variant 0.743077 0.84009 0.22167 0.074636 0.508393927969331 0.842033 0.0833573677195577 FALSE 4.06934e-06 ENSE00000785388_009 ENSE00000785388 009 2 211527794 211527963 + 53 75 42 C T 211527850 4389 57 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTTCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663125 210663126 210663126 exon 4 0.0533333333333333 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTTCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 34 15 1 1 1 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0448434928440734 0.0466477538314515 NA 0.954254376662238 NA 0.0457456233377624 NA FALSE NA 1 7.427 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 34/39 1 tolerated(0.07) probably_damaging(0.999) NA TCC C,T 8.236e-06 2:210663126 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 missense_variant 5.260159 0.9951 0.98411 0.693126 0.998884958059804 0 0.0833573677195577 FALSE 4.06402e-06 ENSE00000785388_011 ENSE00000785388 011 2 211527794 211527963 + 53 75 42 C T 211527865 4391 72 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGTCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663140 210663141 210663141 exon 19 0.253333333333333 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGTCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 136 50 0.978652304801253 0.998463048960043 0.988557676880648 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0234957976453263 0.0451108027914947 NA 0.954254376662238 NA 0.0343033002184105 NA FALSE NA 1 4.624 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 34/39 1 tolerated(1) benign(0.094) NA GCC C,T 1.647e-05 2:210663141 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 missense_variant 2.097787 0.99134 0.93653 0.693126 0.199031957728045 0 0.0833573677195577 FALSE 8.1242e-06 ENSE00000785388_012 ENSE00000785388 012 2 211527794 211527963 + 53 75 42 C T 211527866 4392 73 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCTCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663141 210663142 210663142 exon 20 0.266666666666667 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCTCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 29 37 1 1 1 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0448434928440734 0.0466477538314515 NA 0.954254376662238 NA 0.0457456233377624 NA FALSE NA 1 7.427 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 34/39 1 deleterious(0.01) possibly_damaging(0.736) NA CCC C,T 8.236e-06 2:210663142 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 missense_variant 7.345525 0.9951 0.98411 0.693126 0.9931252923252 0 0.0833573677195577 FALSE 4.06213e-06 ENSE00000785388_013 ENSE00000785388 013 2 211527794 211527963 + 53 75 42 C T 211527867 4393 74 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCTCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663142 210663143 210663143 exon 21 0.28 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCTCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 44 60 0.994249446709757 1 0.997124723354878 NA NA 0.955156507155927 0.953352246168549 NA NA 0.03909293955383 0.0466477538314515 NA 0.954254376662238 NA 0.0428703466926407 NA FALSE NA 1 0.674 . synonymous_variant LOW CPS1 HGNC 2323 ENST00000430249 34/39 1 NA CCC C,T 8.236e-06 2:210663143 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 synonymous_variant 2.071092 0.98224 0.83806 0.693126 0.672988211554868 0 0.0833573677195577 FALSE 4.06194e-06 ENSE00000785388_014 ENSE00000785388 014 2 211527794 211527963 + 53 75 42 G A 211527869 4394 76 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCAGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663144 210663145 210663145 exon 23 0.306666666666667 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCAGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 44 63 0.995227538006307 0.906303075375292 0.950765306690799 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0400710308503802 -0.0470491707932569 NA 0.954254376662238 NA -0.00348906997143833 NA FALSE NA 1 9.398 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 34/39 rs369682093 1 deleterious(0) possibly_damaging(0.675) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0 A:0.0001 CGG G,A 2.471e-05 2:210663145 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 missense_variant 7.280207 0.99523 0.99084 0.693126 0.999172002887523 0 0.0833573677195577 FALSE 1.62489e-05 ENSE00000785388_015 ENSE00000785388 015 2 211527794 211527963 + 53 75 42 T C 211527871 4395 78 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGCTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663146 210663147 210663147 exon 25 0.333333333333333 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGCTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 10 50 1 0.865933107298537 0.932966553649269 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0448434928440734 -0.0874191388700115 NA 0.954254376662238 NA -0.0212878230129691 NA FALSE NA 0 -0.251 . synonymous_variant LOW CPS1 HGNC 2323 ENST00000430249 34/39 1 NA GTT T,C 8.236e-06 2:210663147 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 synonymous_variant 0.101942 0.26153 0.02643 0.693126 0.650672011271493 0 0.0833573677195577 FALSE 8.12321e-06 ENSE00000785388_016 ENSE00000785388 016 2 211527794 211527963 + 53 75 42 A G 211527874 4396 81 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGGGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663149 210663150 210663150 exon 28 0.373333333333333 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGGGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 284 104 0.96634719608931 0.9958704452038 0.981108820646555 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0111906889333838 0.042518199035251 NA 0.954254376662238 NA 0.0268544439843174 NA FALSE NA 1 3.791 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:210663150 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 missense_variant 4.894138 0.9825 0.94281 0.693126 0.986803921578192 0 0.0833573677195577 FALSE 1.21849e-05 ENSE00000785388_017 ENSE00000785388 017 2 211527794 211527963 + 53 75 42 A C 211527874 4397 81 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGCGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663149 210663150 210663150 exon 28 0.373333333333333 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGCGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 23 24 1 1 1 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0448434928440734 0.0466477538314515 NA 0.954254376662238 NA 0.0457456233377624 NA FALSE NA 1 3.791 NA NA NA CPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPS1 NA NA NA ENSG00000021826 ENSE00000785388 synonymous_variant 0.206494 0.98169 0.92735 0.693126 0.584796578187521 0 0.0833573677195577 FALSE 4.06164e-06 ENSE00000785388_018 ENSE00000785388 018 2 211527794 211527963 + 53 75 42 G A 211527917 4398 124 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGAAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663192 210663193 210663193 exon -5 0.946666666666667 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGAAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 143 89 0.974269119685871 0.912916064503767 0.943592592094819 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0191126125299446 -0.0404361816647817 NA 0.954254376662238 NA -0.0106617845674186 NA FALSE NA 1 9.398 . missense_variant MODERATE CPS1 HGNC 2323 ENST00000430249 34/39 rs372645328&CM114386 1 deleterious(0) possibly_damaging(0.906) NA A:0 A:0.0001 GGA G,A 2.471e-05 2:210663193 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 missense_variant 6.476007 0.99518 0.9906 0.693126 0.99780043933649 0 0.0833573677195577 FALSE 4.06157e-06 ENSE00000785388_019 ENSE00000785388 019 2 211527794 211527963 + 53 75 42 G A 211527921 4399 128 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAAGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 210663196 210663197 210663197 exon -1 1 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAAGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 16 13 0 0.0404120399295846 0.0202060199647923 NA NA 0.955156507155927 0.953352246168549 NA NA -0.955156507155927 -0.912940206238964 NA 0.954254376662238 NA -0.934048356697445 NA TRUE NA 1 7.197 . splice_region_variant&synonymous_variant LOW CPS1 HGNC 2323 ENST00000430249 34/39 1 NA AGG G,A 8.237e-06 2:210663197 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 splice_region_variant 1.232746 0.99066 0.95845 0.693126 0.905417399813973 0 0.0833573677195577 FALSE 4.06276e-06 ENSE00000785388_020 ENSE00000785388 020 2 211527794 211527963 + 53 75 42 G A 211527942 4400 149 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATAGAAGCTTTCATTAAATCTACT 210663069 210663239 210663217 210663218 210663218 downstr_intron 21 1.51219512195122 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATAGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 129 50 1 0.996823676017541 0.99841183800877 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0448434928440734 0.0434714298489921 NA 0.954254376662238 NA 0.0441574613465328 NA FALSE NA 0.002 0.711 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 34/38 1 NA TGG G,A 8.237e-06 2:210663218 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 intron_variant -0.229523 0.23726 0.07967 0.061011 0.644762637114049 0.253736 0.0833573677195577 FALSE 3.25246e-05 ENSE00000785388_022 ENSE00000785388 022 2 211527794 211527963 + 53 75 42 A G 211527952 4402 159 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCGTTAAATCTACT 210663069 210663239 210663227 210663228 210663228 downstr_intron 31 1.75609756097561 TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCGTTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT mutant NA NA NA NA NA 73 28 1 0.995815406009726 0.997907703004863 NA NA 0.955156507155927 0.953352246168549 NA NA 0.0448434928440734 0.0424631598411775 NA 0.954254376662238 NA 0.0436533263426255 NA FALSE NA 0 1.735 . intron_variant MODIFIER CPS1 HGNC 2323 ENST00000430249 34/38 rs201858780 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 CAT A,G 0.0001235 2:210663228 CPS1 HGNC Symbol protein_coding 201425 ENSG00000021826 ENSE00000785388 intron_variant -0.072233 0.22794 0.1993 0.061011 0.755864040175095 0.155388 0.0833573677195577 FALSE 0.000118017 ENSE00000785388_BRK ENSE00000785388 BRK 2 211527794 211527963 + 53 75 42 A,G; T,T NA NA NA TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACTTGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGCCAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT 210663069 210663239 NA NA NA NA NA NA TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACTTGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGCCAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT TTTCTACTTTTCCCTCACATAATTTTTCTCCCTGTTTTTTTTTTTTCCAACAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTAACTAGTTAATAATCCATGGAAGCTTTCATTAAATCTACT control NA NA NA NA NA 118 63 0 0 0 NA NA 0.955156507155927 0.953352246168549 NA NA -0.955156507155927 -0.953352246168549 NA 0.954254376662238 NA -0.954254376662238 NA TRUE NA NA NA NA NA NA CPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPS1 NA NA NA ENSG00000021826 ENSE00000785388 NA NA NA NA NA NA NA 0.0833573677195577 FALSE NA ENSE00000785770_000 ENSE00000785770 000 2 219288947 219289116 + 53 75 42 NA NA NA NA NA CTAGGGGTCCTGGTGGTCCAGGGCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC 218424223 218424393 NA NA NA NA NA NA CTAGGGGTCCTGGTGGTCCAGGGCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC CTAGGGGTCCTGGTGGTCCAGGGCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC natural NA NA NA NA NA 1200 128 0.859710985894535 0.994779999244177 0.927245492569356 NA NA 0.859710985894535 0.994779999244177 NA NA 0 0 NA 0.927245492569356 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VIL1 NA NA NA ENSG00000127831 ENSE00000785770 NA NA NA NA NA NA NA 1.21278222497287e-05 FALSE NA ENSE00000785770_003 ENSE00000785770 003 2 219288947 219289116 + 53 75 42 G T 219288969 4623 23 CTAGGGGTCCTGGTGGTCCAGGTCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC 218424223 218424393 218424245 218424246 218424246 upstr_intron -31 -0.566037735849057 CTAGGGGTCCTGGTGGTCCAGGTCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC CTAGGGGTCCTGGTGGTCCAGGGCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC mutant NA NA NA NA NA 44 28 1 1 1 NA NA 0.859710985894535 0.994779999244177 NA NA 0.140289014105465 0.00522000075582285 NA 0.927245492569356 NA 0.072754507430644 NA FALSE NA 0.006 0.182 NA NA NA VIL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:218424246 VIL1 HGNC Symbol protein_coding 34203 ENSG00000127831 ENSE00000785770 intron_variant 0.007241 0.23116 0.09178 0.053691 0.745262834990172 0.0505226 1.21278222497287e-05 FALSE 8.15754e-06 ENSE00000785770_005 ENSE00000785770 005 2 219288947 219289116 + 53 75 42 A G 219288971 4625 25 CTAGGGGTCCTGGTGGTCCAGGGCGGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC 218424223 218424393 218424247 218424248 218424248 upstr_intron -29 -0.528301886792453 CTAGGGGTCCTGGTGGTCCAGGGCGGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC CTAGGGGTCCTGGTGGTCCAGGGCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC mutant NA NA NA NA NA 125 145 1 1 1 NA NA 0.859710985894535 0.994779999244177 NA NA 0.140289014105465 0.00522000075582285 NA 0.927245492569356 NA 0.072754507430644 NA FALSE NA 0.039 0.484 . intron_variant MODIFIER VIL1 HGNC 12690 ENST00000392114 1/14 1 NA CAG A,G 8.236e-06 2:218424248 VIL1 HGNC Symbol protein_coding 34203 ENSG00000127831 ENSE00000785770 intron_variant 0.303672 0.18008 0.05164 0.053691 0.605802281469906 0.0505226 1.21278222497287e-05 FALSE 4.07628e-06 ENSE00000785770_019 ENSE00000785770 019 2 219288947 219289116 + 53 75 42 G A 219289086 4639 140 CTAGGGGTCCTGGTGGTCCAGGGCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGACAGGGGAGGGGGCTGAGCAGAGAGCAAAAC 218424223 218424393 218424362 218424363 218424363 downstr_intron 12 1.29268292682927 CTAGGGGTCCTGGTGGTCCAGGGCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGACAGGGGAGGGGGCTGAGCAGAGAGCAAAAC CTAGGGGTCCTGGTGGTCCAGGGCAGCCCCTCTGACCCTCTTTCTCTCCTTAGGCCATGCAGATGGTGCCTGTTCCTTCCAGCACCTTTGGAAGCTTCTTCGATGGTGACTGCTACATCATCCTGGCTGTGAGTCAGGGGCAGGGGAGGGGGCTGAGCAGAGAGCAAAAC mutant NA NA NA NA NA 370 15 0.99877005520843 1 0.999385027604215 NA NA 0.859710985894535 0.994779999244177 NA NA 0.139059069313895 0.00522000075582285 NA 0.927245492569356 NA 0.0721395350348589 NA FALSE NA 0 0.847 . intron_variant MODIFIER VIL1 HGNC 12690 ENST00000392114 1/14 1 NA GGC G,A 8.236e-06 2:218424363 VIL1 HGNC Symbol protein_coding 34203 ENSG00000127831 ENSE00000785770 intron_variant 0.439048 0.2512 0.11193 0.053691 0.861735141375772 0.0759055 1.21278222497287e-05 FALSE 4.07213e-06 ENSE00000790042_000 ENSE00000790042 000 1 178410643 178410812 + 41 99 30 NA NA NA NA NA CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG 178441507 178441677 NA NA NA NA NA NA CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG natural NA NA NA NA NA 2998 1613 0.922396101231678 0.998451503597432 0.960423802414555 NA NA 0.922396101231678 0.998451503597432 NA NA 0 0 NA 0.960423802414555 NA 0 NA FALSE NA NA NA NA NA NA RASAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASAL2 NA NA NA ENSG00000075391 ENSE00000790042 NA NA NA NA NA NA NA 0.226449659060918 FALSE NA ENSE00000790042_001 ENSE00000790042 001 1 178410643 178410812 + 41 99 30 T C 178410663 4399 21 CCAGTGTTTTCTTTTTCTTACGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG 178441507 178441677 178441527 178441528 178441528 upstr_intron -21 -0.48780487804878 CCAGTGTTTTCTTTTTCTTACGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG mutant NA NA NA NA NA 142 127 1 0.95 0.975 NA NA 0.922396101231678 0.998451503597432 NA NA 0.0776038987683216 -0.0484515035974322 NA 0.960423802414555 NA 0.0145761975854447 NA FALSE NA 0.82 2.15 . intron_variant MODIFIER RASAL2 HGNC 9874 ENST00000462775 4/15 rs373789803 1 NA C:0 C:0.0001 ATG T,C 8.24e-06 1:178441528 RASAL2 HGNC Symbol protein_coding 390006 ENSG00000075391 ENSE00000790042 intron_variant 1.570913 0.34327 0.39271 0.053691 0.895976022925199 0.282303 0.226449659060918 FALSE NA ENSE00000790042_002 ENSE00000790042 002 1 178410643 178410812 + 41 99 30 G A 178410664 4400 22 CCAGTGTTTTCTTTTTCTTATATCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG 178441507 178441677 178441528 178441529 178441529 upstr_intron -20 -0.463414634146341 CCAGTGTTTTCTTTTTCTTATATCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG mutant NA NA NA NA NA 309 46 1 1 1 NA NA 0.922396101231678 0.998451503597432 NA NA 0.0776038987683216 0.00154849640256782 NA 0.960423802414555 NA 0.0395761975854447 NA FALSE NA 0.316 -0.405 . intron_variant MODIFIER RASAL2 HGNC 9874 ENST00000462775 4/15 1 NA TGT G,A 8.241e-06 1:178441529 RASAL2 HGNC Symbol protein_coding 390006 ENSG00000075391 ENSE00000790042 intron_variant 1.339039 0.31867 0.02908 0.053691 0.648321197882342 0.278479 0.226449659060918 FALSE 4.09782e-06 ENSE00000790042_005 ENSE00000790042 005 1 178410643 178410812 + 41 99 30 G T 178410684 4403 42 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGTTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG 178441507 178441677 178441548 178441549 178441549 exon 1 0.0101010101010101 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGTTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG mutant NA NA NA NA NA 32 112 1 1 1 NA NA 0.922396101231678 0.998451503597432 NA NA 0.0776038987683216 0.00154849640256782 NA 0.960423802414555 NA 0.0395761975854447 NA FALSE NA 1 7.839 . missense_variant&splice_region_variant MODERATE RASAL2 HGNC 9874 ENST00000462775 5/16 1 deleterious(0) possibly_damaging(0.901) NA GGT G,T 2.472e-05 1:178441549 RASAL2 HGNC Symbol protein_coding 390006 ENSG00000075391 ENSE00000790042 missense_variant 6.47483 0.99287 0.99289 0.615465 0.993374094180413 0 0.226449659060918 FALSE 8.15388e-06 ENSE00000790042_007 ENSE00000790042 007 1 178410643 178410812 + 41 99 30 C A 178410688 4405 46 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTAACTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG 178441507 178441677 178441552 178441553 178441553 exon 5 0.0505050505050505 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTAACTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG mutant NA NA NA NA NA 486 91 1 1 1 NA NA 0.922396101231678 0.998451503597432 NA NA 0.0776038987683216 0.00154849640256782 NA 0.960423802414555 NA 0.0395761975854447 NA FALSE NA 1 4.805 NA NA NA RASAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:178441553 RASAL2 HGNC Symbol protein_coding 390006 ENSG00000075391 ENSE00000790042 missense_variant 6.254052 0.99304 0.98593 0.615465 0.993395185037029 0 0.226449659060918 FALSE 4.07691e-06 ENSE00000790042_016 ENSE00000790042 016 1 178410643 178410812 + 41 99 30 C T 178410759 4414 117 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTTGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG 178441507 178441677 178441623 178441624 178441624 exon -24 0.767676767676768 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTTGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG mutant NA NA NA NA NA 34 233 1 0.97870623068144 0.98935311534072 NA NA 0.922396101231678 0.998451503597432 NA NA 0.0776038987683216 -0.0197452729159926 NA 0.960423802414555 NA 0.0289293129261645 NA FALSE NA 1 3.816 . missense_variant MODERATE RASAL2 HGNC 9874 ENST00000462775 5/16 rs201599766&COSM900123&COSM900124&COSM1583814 1 deleterious(0) possibly_damaging(0.708) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 2.472e-05 1:178441624 RASAL2 HGNC Symbol protein_coding 390006 ENSG00000075391 ENSE00000790042 missense_variant 7.573393 0.98208 0.93196 0.706298 0.998561376182087 0 0.226449659060918 FALSE 1.63042e-05 ENSE00000790042_018 ENSE00000790042 018 1 178410643 178410812 + 41 99 30 A G 178410765 4416 123 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGGCAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG 178441507 178441677 178441629 178441630 178441630 exon -18 0.828282828282828 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGGCAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG mutant NA NA NA NA NA 38 59 1 1 1 NA NA 0.922396101231678 0.998451503597432 NA NA 0.0776038987683216 0.00154849640256782 NA 0.960423802414555 NA 0.0395761975854447 NA FALSE NA 1 2.473 . missense_variant MODERATE RASAL2 HGNC 9874 ENST00000462775 5/16 1 tolerated(1) benign(0.001) NA GAC A,G 8.24e-06 1:178441630 RASAL2 HGNC Symbol protein_coding 390006 ENSG00000075391 ENSE00000790042 missense_variant 1.054008 0.97348 0.87466 0.706298 0.550691696332535 0 0.226449659060918 FALSE 1.22286e-05 ENSE00000790042_019 ENSE00000790042 019 1 178410643 178410812 + 41 99 30 A T 178410777 4417 135 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTTATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG 178441507 178441677 178441641 178441642 178441642 exon -6 0.94949494949495 CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTTATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG CCAGTGTTTTCTTTTTCTTATGTCTAATTTTTATGTTGAAGGTTACCTACTTAAGTGGAAGTAAATGCTTCAGCTGTAATTCTGCTTCTGAGAGAGACAAGTGGATGGAAAACCTTCGCAGGACAGTTCAACCTAATAAGGTAATAGTAGCTTCAAGTATCTAAAAAATG mutant NA NA NA NA NA 42 19 1 1 1 NA NA 0.922396101231678 0.998451503597432 NA NA 0.0776038987683216 0.00154849640256782 NA 0.960423802414555 NA 0.0395761975854447 NA FALSE NA 1 9.059 . missense_variant MODERATE RASAL2 HGNC 9874 ENST00000462775 5/16 COSM3943142&COSM3943144&COSM3943143 1 deleterious(0.01) possibly_damaging(0.451) NA TAA A,T 1.648e-05 1:178441642 RASAL2 HGNC Symbol protein_coding 390006 ENSG00000075391 ENSE00000790042 missense_variant 6.114336 0.99457 0.99856 0.706298 0.995036038075396 0 0.226449659060918 FALSE 8.1692e-06 ENSE00000796206_000 ENSE00000796206 000 11 119230840 119231009 - 54 51 65 NA NA NA NA NA AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 NA NA NA NA NA NA AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT natural 90 93 0.993164132817051 0.997859433696297 0.995511783256674 2112 3444 0.99008882943347 0.879768102175543 0.934928465804507 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 0 0 0 0 0.995511783256674 0.934928465804507 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP2 NA NA NA ENSG00000036672 ENSE00003604416 NA NA NA NA NA NA NA 0.185180861868735 FALSE NA ENSE00000796206_001 ENSE00000796206 001 11 119230840 119231009 - 54 51 65 G C 119230854 2817 156 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCGCTACTATGCTGACT 119360129 119360299 119360143 119360144 119360144 downstr_intron 40 1.75471698113208 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCGCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 234 227 0.998227914791591 1 0.999113957395795 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA 0.00813908535812069 0.120231897824457 0.995511783256674 0.934928465804507 NA 0.0641854915912888 NA FALSE NA 0.003 0.25 NA NA NA USP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:119360144 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 intron_variant 0.293525 0.19102 0.05039 0.056701 0.723391352586163 0.0634219 0.185180861868735 FALSE 8.31186e-05 ENSE00000796206_006 ENSE00000796206 006 11 119230840 119231009 - 54 51 65 G C 119230878 2822 132 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGGCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360167 119360168 119360168 downstr_intron 16 1.30188679245283 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGGCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 188 446 1 1 1 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA 0.00991117056653001 0.120231897824457 0.995511783256674 0.934928465804507 NA 0.0650715341954935 NA FALSE NA 0.107 0.816 . intron_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 2/5 rs369502700 1 NA C:0.0002 C:0 GGC G,C 2.471e-05 11:119360168 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 intron_variant -0.36072 0.20689 0.02692 0.055982 0.388859273340715 0.0968874 0.185180861868735 FALSE 2.44836e-05 ENSE00000796206_007 ENSE00000796206 007 11 119230840 119231009 - 54 51 65 A G 119230884 2823 126 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTCCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360173 119360174 119360174 downstr_intron 10 1.18867924528302 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTCCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 188 215 1 1 1 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA 0.00991117056653001 0.120231897824457 0.995511783256674 0.934928465804507 NA 0.0650715341954935 NA FALSE NA 0.061 1.039 . intron_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 2/5 rs552071331 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GAA A,G 8.236e-06 11:119360174 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 intron_variant 0.279467 0.19185 0.4232 0.055982 0.488364797802845 0.108369 0.185180861868735 FALSE 4.07591e-06 ENSE00000796206_008 ENSE00000796206 008 11 119230840 119231009 - 54 51 65 C T 119230894 2824 116 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACAGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360183 119360184 119360184 exon -1 1 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACAGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant 47 142 0.85 0.876076974845208 0.863038487422604 1369 120 0.830200971509194 0.804196856436303 0.817198913972748 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 -0.143164132817051 -0.121782458851089 -0.159887857924276 -0.0755712457392405 0.995511783256674 0.934928465804507 -0.13247329583407 -0.117729551831758 0.0147437440023116 FALSE FALSE 1 2.397 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:119360184 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 splice_region_variant 2.597538 0.97965 0.92322 0.646311 0.963100448189567 0 0.185180861868735 FALSE 4.07206e-06 ENSE00000796206_009 ENSE00000796206 009 11 119230840 119231009 - 54 51 65 C G 119230894 2825 116 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACCGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360183 119360184 119360184 exon -1 1 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACCGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant 71 175 0.85 0.85 0.85 80 31 0.8 0.8 0.8 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 -0.143164132817051 -0.147859433696297 -0.19008882943347 -0.079768102175543 0.995511783256674 0.934928465804507 -0.145511783256674 -0.134928465804506 0.0105833174521674 FALSE FALSE 1 2.397 NA NA NA USP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP2 NA NA NA ENSG00000036672 ENSE00003604416 splice_region_variant 2.327716 0.9815 0.95818 0.646311 0.96772695691913 0 0.185180861868735 FALSE 7.32971e-05 ENSE00000796206_010 ENSE00000796206 010 11 119230840 119231009 - 54 51 65 G A 119230895 2826 115 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACATGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360184 119360185 119360185 exon -2 0.980392156862745 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACATGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 107 256 0.979317508944789 1 0.989658754472394 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA -0.0107713204886815 0.120231897824457 0.995511783256674 0.934928465804507 NA 0.0547302886678878 NA FALSE NA 1 9.066 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW USP2 HGNC 12618 ENST00000532613 2/6 1 NA CGT G,A 2.471e-05 11:119360185 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 missense_variant 7.032147 0.99207 0.99296 0.646311 0.999041630869301 0 0.185180861868735 FALSE 1.62821e-05 ENSE00000796206_011 ENSE00000796206 011 11 119230840 119231009 - 54 51 65 T C 119230898 2827 112 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAGCACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360187 119360188 119360188 exon -5 0.92156862745098 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAGCACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 489 35 0.997275397793226 0.995454207152136 0.996364802472681 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA 0.00718656835975573 0.115686104976593 0.995511783256674 0.934928465804507 NA 0.0614363366681746 NA FALSE NA 1 7.398 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 2/6 rs537255168 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTT T,C 8.236e-06 11:119360188 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 missense_variant 3.661146 0.98936 0.98945 0.646311 0.998819812878059 0 0.185180861868735 FALSE 4.06865e-06 ENSE00000796206_013 ENSE00000796206 013 11 119230840 119231009 - 54 51 65 G A 119230911 2829 99 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTTGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360200 119360201 119360201 exon -18 0.666666666666667 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTTGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant 10 35 0.85 0.85 0.85 NA NA NA NA NA 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 -0.143164132817051 -0.147859433696297 NA NA 0.995511783256674 0.934928465804507 -0.145511783256674 NA NA NA FALSE 1 4.612 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 2/6 1 NA CGA G,A 8.236e-06 11:119360201 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 stop_gained 13.955795 0.98465 0.96628 0.646311 0.996640609283216 0 0.185180861868735 FALSE 4.0661e-06 ENSE00000796206_015 ENSE00000796206 015 11 119230840 119231009 - 54 51 65 C G 119230921 2831 89 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTCGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360210 119360211 119360211 exon 24 0.470588235294118 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTCGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 44 73 1 1 1 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA 0.00991117056653001 0.120231897824457 0.995511783256674 0.934928465804507 NA 0.0650715341954935 NA FALSE NA 1 3.504 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 2/6 1 NA CCA C,G 2.471e-05 11:119360211 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 synonymous_variant 1.502862 0.9873 0.97292 0.646311 0.808085962919236 0 0.185180861868735 FALSE 1.21949e-05 ENSE00000796206_017 ENSE00000796206 017 11 119230840 119231009 - 54 51 65 A T 119230933 2833 77 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGAGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360222 119360223 119360223 exon 12 0.235294117647059 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGAGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant 44 164 0.991618672306326 0.926089513287052 0.958854092796689 704 762 0.896775550665019 0.999348082916672 0.948061816790845 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 -0.00154546051072468 -0.0717699204092447 -0.0933132787684512 0.119579980741129 0.995511783256674 0.934928465804507 -0.0366576904599847 0.0131333509863387 0.0497910414463233 FALSE FALSE 0 -1.378 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 2/6 1 NA CAC A,T 1.647e-05 11:119360223 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 missense_variant 1.28955 0.89231 0.10566 0.646311 0.905620099449347 0 0.185180861868735 FALSE 8.13246e-06 ENSE00000796206_019 ENSE00000796206 019 11 119230840 119231009 - 54 51 65 A G 119230958 2835 52 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGCTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360247 119360248 119360248 upstr_intron -14 -0.2 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGCTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 3180 497 0.987710179252971 0.981691718855722 0.984700949054346 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA -0.00237865018049899 0.101923616680179 0.995511783256674 0.934928465804507 NA 0.0497724832498398 NA FALSE NA 0.009 1.019 rs145283051 intron_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 1/5 rs145283051 1 G:0.0062 G:0.0234 G:0 NA G:0 G:0 G:0 G:0.0241 G:0.0001 AAC A,G 0.002051 11:119360248 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 intron_variant 1.059136 0.90663 0.4493 0.055982 0.752364606056926 0.27304 0.185180861868735 FALSE 0.0015855 ENSE00000796206_021 ENSE00000796206 021 11 119230840 119231009 - 54 51 65 A G 119230968 2837 42 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTACTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360257 119360258 119360258 upstr_intron -24 -0.353846153846154 AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTACTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 668 193 0.998761304835053 1 0.999380652417527 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA 0.00867247540158333 0.120231897824457 0.995511783256674 0.934928465804507 NA 0.0644521866130202 NA FALSE NA 0 -3.249 . intron_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 1/5 1 NA AAT A,G 1.647e-05 11:119360258 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 intron_variant -0.022567 0.09677 0.00439 0.055982 0.299329236330811 0.0616919 0.185180861868735 FALSE 1.22664e-05 ENSE00000796206_023 ENSE00000796206 023 11 119230840 119231009 - 54 51 65 G A 119230984 2839 26 AGAGAGCCCAGCACAGGCCTAGCATTTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360273 119360274 119360274 upstr_intron -40 -0.6 AGAGAGCCCAGCACAGGCCTAGCATTTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 392 365 1 1 1 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA 0.00991117056653001 0.120231897824457 0.995511783256674 0.934928465804507 NA 0.0650715341954935 NA FALSE NA 0 0.698 . intron_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 1/5 1 NA AGA G,A 8.238e-06 11:119360274 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 intron_variant 0.687228 0.9526 0.19706 0.055982 0.619202225685974 0.591432 0.185180861868735 FALSE 2.07746e-05 ENSE00000796206_024 ENSE00000796206 024 11 119230840 119231009 - 54 51 65 C A 119230993 2840 17 AGAGAGCCCAGCACAGTCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 119360282 119360283 119360283 upstr_intron -49 -0.738461538461539 AGAGAGCCCAGCACAGTCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT mutant NA NA NA NA NA 168 367 0.999086600811595 0.995703233481553 0.997394917146574 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 NA NA 0.00899777137812474 0.11593513130601 0.995511783256674 0.934928465804507 NA 0.0624664513420673 NA FALSE NA 0.001 0.235 . intron_variant&non_coding_transcript_variant MODIFIER USP2 HGNC 12618 ENST00000532613 1/5 1 NA GCC C,A 2.471e-05 11:119360283 USP2 HGNC Symbol protein_coding 26511 ENSG00000036672 ENSE00003604416 intron_variant 0.540555 0.26322 0.11745 0.055982 0.769892221979703 0.0616919 0.185180861868735 FALSE 4.24459e-05 ENSE00000796206_BRK ENSE00000796206 BRK 11 119230840 119231009 - 54 51 65 A,G; T,T NA NA NA AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACTTAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGCCGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT 119360129 119360299 NA NA NA NA NA NA AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACTTAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGCCGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT AGAGAGCCCAGCACAGGCCTAGCATCTTTGCTTCCACCTTATTGCCATATGTTCTTTGCTTACAGAATTCTAAGAGTGCCCAGGGTCTGGCTGGTCTTCGAAACCTTGGGAACACGGTGAGTTTTTCCTGGCCTGCTTCTTCCCCAGGCCCACCCCCTACTATGCTGACT control 187 268 0 0 0 25 271 0 0 0 0.993164132817051 0.997859433696297 0.99008882943347 0.879768102175543 -0.993164132817051 -0.997859433696297 -0.99008882943347 -0.879768102175543 0.995511783256674 0.934928465804507 -0.995511783256674 -0.934928465804507 0.0605833174521674 TRUE TRUE NA NA NA NA NA USP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP2 NA NA NA ENSG00000036672 ENSE00003604416 NA NA NA NA NA NA NA 0.185180861868735 FALSE NA ENSE00000798457_000 ENSE00000798457 000 1 70700335 70700504 + 44 93 33 NA NA NA NA NA AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 NA NA NA NA NA NA AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT natural 308 269 0.817256625111295 0.877275582169797 0.847266103640546 2487 2236 0.957472731366484 0.913958174406633 0.935715452886559 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 0 0 0 0 0.847266103640546 0.935715452886559 0 0 0 FALSE FALSE NA NA NA NA NA SRSF11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRSF11 NA NA NA ENSG00000116754 ENSE00003542076 NA NA NA NA NA NA NA 0.999787767134473 TRUE NA ENSE00000798457_001 ENSE00000798457 001 1 70700335 70700504 + 44 93 33 T C 70700366 2154 32 AACTGAAATGAAGTTTTAAATAAATAAAATTCGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234682 70234683 70234683 upstr_intron -13 -0.272727272727273 AACTGAAATGAAGTTTTAAATAAATAAAATTCGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 853 174 0.0325857908218624 0.115976277512124 0.074281034166993 618 793 0.0250098323073267 0.00365325025116506 0.0143315412792459 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 -0.784670834289432 -0.761299304657673 -0.932462899059158 -0.910304924155468 0.847266103640546 0.935715452886559 -0.772985069473553 -0.921383911607313 0.14839884213376 TRUE TRUE 0.955 3.703 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA TTG T,C 8.237e-06 1:70234683 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 intron_variant 1.460104 0.18953 0.87976 0.295142 0.85025292127882 0.390195 0.999787767134473 TRUE 4.57486e-06 ENSE00000798457_002 ENSE00000798457 002 1 70700335 70700504 + 44 93 33 A G 70700370 2155 36 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCGTTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234686 70234687 70234687 upstr_intron -9 -0.181818181818182 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCGTTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant NA NA NA NA NA 35 1780 0.943276331807596 0.822756219361656 0.883016275584626 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 NA NA -0.0141963995588886 -0.0912019550449765 0.847266103640546 0.935715452886559 NA -0.0526991773019326 NA FALSE NA 0.009 0.317 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA CAT A,G 9.884e-05 1:70234687 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 intron_variant 1.851447 0.29604 0.27823 0.295142 0.901234434316613 0.393164 0.999787767134473 TRUE 9.98702e-05 ENSE00000798457_003 ENSE00000798457 003 1 70700335 70700504 + 44 93 33 T G 70700381 2156 47 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATGGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234697 70234698 70234698 exon 3 0.032258064516129 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATGGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 217 152 0.85 0.85 0.85 3104 331 0.900599931520244 0.907803749736848 0.904201840628546 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 0.0327433748887053 -0.0272755821697969 -0.0568727998462407 -0.00615442466978544 0.847266103640546 0.935715452886559 0.0027338963594542 -0.0315136122580131 0.0342475086174673 FALSE FALSE 1 0.804 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA TTG T,G 8.236e-06 1:70234698 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 missense_variant 1.961163 0.96721 0.9086 0.706548 0.993837840760004 0 0.999787767134473 TRUE 4.26345e-06 ENSE00000798457_004 ENSE00000798457 004 1 70700335 70700504 + 44 93 33 G A 70700385 2157 51 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCACTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234701 70234702 70234702 exon 7 0.0752688172043011 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCACTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 105 46 0 0 0 NA NA NA NA NA 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 -0.817256625111295 -0.877275582169797 NA NA 0.847266103640546 0.935715452886559 -0.847266103640546 NA NA NA TRUE 1 8.601 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA CGC G,A 8.236e-06 1:70234702 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 missense_variant 3.972057 0.98686 0.9968 0.706548 0.998615756027523 0 0.999787767134473 TRUE NA ENSE00000798457_005 ENSE00000798457 005 1 70700335 70700504 + 44 93 33 C T 70700386 2158 52 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGTTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234702 70234703 70234703 exon 8 0.0860215053763441 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGTTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 185 296 0.85 0.85 0.85 55 2437 0.869664319917212 0.911644555513 0.890654437715106 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 0.0327433748887053 -0.0272755821697969 -0.0878084114492724 -0.00231361889363246 0.847266103640546 0.935715452886559 0.0027338963594542 -0.0450610151714524 0.0477949115309066 FALSE FALSE 1 3.961 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA GCT C,T 8.236e-06 1:70234703 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 missense_variant 4.303707 0.99352 0.99213 0.706548 0.9988239413654 0 0.999787767134473 TRUE 4.18421e-06 ENSE00000798457_006 ENSE00000798457 006 1 70700335 70700504 + 44 93 33 G C 70700396 2159 62 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTCGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234712 70234713 70234713 exon 18 0.193548387096774 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTCGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 91 169 0.843953046674282 0.85 0.846976523337141 2562 630 0.942389489938307 0.953337251781519 0.947863370859913 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 0.0266964215629868 -0.0272755821697969 -0.0150832414281771 0.0393790773748856 0.847266103640546 0.935715452886559 -0.000289580303405035 0.0121479179733542 0.0124374982767593 FALSE FALSE 1 2.896 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA TGG G,C 8.236e-06 1:70234713 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 synonymous_variant 1.132277 0.9799 0.9788 0.706548 0.777132769016939 0 0.999787767134473 TRUE 4.16938e-06 ENSE00000798457_007 ENSE00000798457 007 1 70700335 70700504 + 44 93 33 G A 70700397 2160 63 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGACTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234713 70234714 70234714 exon 19 0.204301075268817 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGACTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant NA NA NA NA NA 347 1187 0.947797920205206 0.946329386466737 0.947063653335971 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 NA NA -0.00967481116127888 0.0323712120601036 0.847266103640546 0.935715452886559 NA 0.0113482004494124 NA FALSE NA 1 6.014 rs140006011 downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 rs140006011&COSM3492138&COSM3492137 1 NA A:0.0002 A:0 GGC G,A 2.471e-05 1:70234714 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 missense_variant 4.005984 0.9848 0.99174 0.706548 0.998746568052772 0 0.999787767134473 TRUE 1.25195e-05 ENSE00000798457_008 ENSE00000798457 008 1 70700335 70700504 + 44 93 33 T C 70700403 2161 69 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTCTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234719 70234720 70234720 exon 25 0.268817204301075 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTCTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 258 349 0.85 0.85 0.85 NA NA NA NA NA 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 0.0327433748887053 -0.0272755821697969 NA NA 0.847266103640546 0.935715452886559 0.0027338963594542 NA NA NA FALSE 1 2.113 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 rs199861103 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TTT T,C 1.647e-05 1:70234720 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 synonymous_variant 0.756172 0.98325 0.96105 0.732398 0.781536095041548 0 0.999787767134473 TRUE 2.46378e-05 ENSE00000798457_009 ENSE00000798457 009 1 70700335 70700504 + 44 93 33 G T 70700408 2162 74 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGTGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234724 70234725 70234725 exon 30 0.32258064516129 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGTGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant NA NA NA NA NA 617 304 0.906062069638633 0.851009510286846 0.878535789962739 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 NA NA -0.0514106617278518 -0.0629486641197874 0.847266103640546 0.935715452886559 NA -0.0571796629238196 NA FALSE NA 1 1.403 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA GGG G,T 4.118e-05 1:70234725 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 synonymous_variant 1.244299 0.96256 0.7702 0.732398 0.66756409598567 0 0.999787767134473 TRUE 3.28842e-05 ENSE00000798457_010 ENSE00000798457 010 1 70700335 70700504 + 44 93 33 T C 70700411 2163 77 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCCCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234727 70234728 70234728 exon 33 0.354838709677419 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCCCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 35 56 0.69488817042189 0.633581213516862 0.664234691969376 NA NA NA NA NA 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 -0.122368454689405 -0.243694368652935 NA NA 0.847266103640546 0.935715452886559 -0.18303141167117 NA NA NA FALSE 1 2.061 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA CTC T,C 8.236e-06 1:70234728 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 synonymous_variant 0.772624 0.96822 0.91559 0.732398 0.700604964371277 0 0.999787767134473 TRUE 4.09343e-06 ENSE00000798457_011 ENSE00000798457 011 1 70700335 70700504 + 44 93 33 C A 70700425 2164 91 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCATGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234741 70234742 70234742 exon -47 0.505376344086022 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCATGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant NA NA NA NA NA 397 215 0.800657008102217 0.8 0.800328504051108 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 NA NA -0.156815723264268 -0.113958174406633 0.847266103640546 0.935715452886559 NA -0.13538694883545 NA FALSE NA 1 7.036 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA CCT C,A 8.236e-06 1:70234742 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 missense_variant 5.18292 0.99368 0.99531 0.732398 0.99679771897216 0 0.999787767134473 TRUE NA ENSE00000798457_012 ENSE00000798457 012 1 70700335 70700504 + 44 93 33 G T 70700427 2165 93 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTTCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234743 70234744 70234744 exon -45 0.526881720430108 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTTCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant NA NA NA NA NA 1512 22 0.991283735689312 0.806573940635753 0.898928838162533 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 NA NA 0.033811004322828 -0.10738423377088 0.847266103640546 0.935715452886559 NA -0.0367866147240258 NA FALSE NA 1 4.554 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA TGC G,T 2.471e-05 1:70234744 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 missense_variant 2.179558 0.9836 0.97357 0.732398 0.933458423327242 0 0.999787767134473 TRUE 1.22507e-05 ENSE00000798457_013 ENSE00000798457 013 1 70700335 70700504 + 44 93 33 C G 70700429 2166 95 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCGCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234745 70234746 70234746 exon -43 0.548387096774194 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCGCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant NA NA NA NA NA 1133 214 1 0.999260250630305 0.999630125315153 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 NA NA 0.0425272686335155 0.0853020762236725 0.847266103640546 0.935715452886559 NA 0.063914672428594 NA FALSE NA 1 2.177 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 rs372180100 1 NA CCC C,G 1.647e-05 1:70234746 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 synonymous_variant 2.064387 0.98062 0.9559 0.732398 0.711205472303687 0 0.999787767134473 TRUE 2.04195e-05 ENSE00000798457_014 ENSE00000798457 014 1 70700335 70700504 + 44 93 33 A G 70700456 2167 122 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCGAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234772 70234773 70234773 exon -16 0.838709677419355 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCGAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant NA NA NA NA NA 251 314 1 0.993565612452952 0.996782806226476 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 NA NA 0.0425272686335155 0.079607438046319 0.847266103640546 0.935715452886559 NA 0.0610673533399173 NA FALSE NA 1 2.399 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 rs372569935 1 NA G:0.0005 G:0 CAA A,G 1.647e-05 1:70234773 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 synonymous_variant 0.705153 0.96744 0.96496 0.732398 0.568026476885277 0 0.999787767134473 TRUE 1.23342e-05 ENSE00000798457_015 ENSE00000798457 015 1 70700335 70700504 + 44 93 33 T C 70700475 2168 141 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTACACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 70234791 70234792 70234792 downstr_intron 4 1.125 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTACACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 66 53 0.85 0.904494234821568 0.877247117410784 414 84 0.953110720530507 0.944028275143645 0.948569497837076 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 0.0327433748887052 0.0272186526517709 -0.00436201083597776 0.030070100737012 0.847266103640546 0.935715452886559 0.029981013770238 0.0128540449505171 0.0171269688197209 FALSE FALSE 0.002 -0.224 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 1 NA ATA T,C 5.765e-05 1:70234792 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 splice_region_variant 0.057124 0.15468 0.04046 0.099367 0.541431671090639 0.116724 0.999787767134473 TRUE 6.42574e-05 ENSE00000798457_016 ENSE00000798457 016 1 70700335 70700504 + 44 93 33 A G 70700491 2169 157 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAGATTTTTCACCCAT 70234651 70234821 70234807 70234808 70234808 downstr_intron 20 1.625 AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAGATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT mutant 62 103 0.85 0.85 0.85 701 1272 0.941591688491343 0.946643065772037 0.94411737713169 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 0.0327433748887053 -0.0272755821697968 -0.0158810428751415 0.0326848913654039 0.847266103640546 0.935715452886559 0.00273389635945426 0.0084019242451312 0.00566802788567694 FALSE FALSE 0 1.028 . downstream_gene_variant MODIFIER SRSF11 HGNC 10782 ENST00000454435 rs201325006 1 G:0.0064 G:0.0008 G:0 NA G:0 G:0.001 G:0.0307 G:0.0014 G:0.0043 AAA A,G 0.006499 1:70234808 SRSF11 HGNC Symbol protein_coding 47370 ENSG00000116754 ENSE00003542076 intron_variant -0.154046 0.21759 0.19982 0.099367 0.384366771558088 0.0549515 0.999787767134473 TRUE 0.00600386 ENSE00000798457_BRK ENSE00000798457 BRK 1 70700335 70700504 + 44 93 33 A,G; T,T NA NA NA AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACTTATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGCCATACCTTAGTAACTTCAAATTTTTCACCCAT 70234651 70234821 NA NA NA NA NA NA AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACTTATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGCCATACCTTAGTAACTTCAAATTTTTCACCCAT AACTGAAATGAAGTTTTAAATAAATAAAATTTGCCATTTCACAGATTGGCGCTGTTCCACTGGCTGCTTTGGGGGCTCCTACTCTTGATCCTGCCCTTGCTGCACTTGGGCTTCCTGGAGCAAACTTGAACTCTCAGGTATACCTTAGTAACTTCAAATTTTTCACCCAT control 176 411 0 0 0 338 537 0.0426152084671934 0.000596008271583977 0.0216056083693887 0.817256625111295 0.877275582169797 0.957472731366484 0.913958174406633 -0.817256625111295 -0.877275582169797 -0.914857522899291 -0.913362166135049 0.847266103640546 0.935715452886559 -0.847266103640546 -0.91410984451717 0.0668437408766243 TRUE TRUE NA NA NA NA NA SRSF11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRSF11 NA NA NA ENSG00000116754 ENSE00003542076 NA NA NA NA NA NA NA 0.999787767134473 TRUE NA ENSE00000799436_000 ENSE00000799436 000 18 203054 203223 + 44 93 33 NA NA NA NA NA GGTATTTTGATGTAATGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG 203053 203223 NA NA NA NA NA NA GGTATTTTGATGTAATGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG GGTATTTTGATGTAATGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG natural NA NA NA NA NA 284 87 0.982910858321613 0.91281676765763 0.947863812989622 NA NA 0.982910858321613 0.91281676765763 NA NA 0 0 NA 0.947863812989622 NA 0 NA FALSE NA NA NA NA NA NA USP14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP14 NA NA NA ENSG00000101557 ENSE00003525154 NA NA NA NA NA NA NA 0.927536807900908 TRUE NA ENSE00000799436_002 ENSE00000799436 002 18 203054 203223 + 44 93 33 A G 203068 2 15 GGTATTTTGATGTAGTGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG 203053 203223 203067 203068 203068 upstr_intron -30 -0.659090909090909 GGTATTTTGATGTAGTGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG GGTATTTTGATGTAATGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG mutant NA NA NA NA NA 352 14 1 1 1 NA NA 0.982910858321613 0.91281676765763 NA NA 0.0170891416783868 0.0871832323423698 NA 0.947863812989622 NA 0.0521361870103783 NA FALSE NA 0.946 2.088 . intron_variant MODIFIER USP14 HGNC 12612 ENST00000261601 11/15 rs201652385 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAT A,G 3.295e-05 18:203068 USP14 HGNC Symbol protein_coding 56246 ENSG00000101557 ENSE00003525154 intron_variant 0.197712 0.28297 0.27217 0.163922 0.352545459359683 0.0657212 0.927536807900908 TRUE 3.27528e-05 ENSE00000799436_003 ENSE00000799436 003 18 203054 203223 + 44 93 33 T C 203069 3 16 GGTATTTTGATGTAACGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG 203053 203223 203068 203069 203069 upstr_intron -29 -0.636363636363636 GGTATTTTGATGTAACGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG GGTATTTTGATGTAATGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG mutant NA NA NA NA NA 152 344 1 0.999889293333552 0.999944646666776 NA NA 0.982910858321613 0.91281676765763 NA NA 0.0170891416783868 0.0870725256759218 NA 0.947863812989622 NA 0.0520808336771543 NA FALSE NA 0 -0.701 . intron_variant MODIFIER USP14 HGNC 12612 ENST00000261601 11/15 1 NA ATG N,C 4.942e-05 18:203069 USP14 HGNC Symbol protein_coding 56246 ENSG00000101557 ENSE00003525154 intron_variant -0.023886 0.25442 0.16702 0.163922 0.296387193338548 0.0657212 0.927536807900908 TRUE 6.55024e-05 ENSE00000799436_007 ENSE00000799436 007 18 203054 203223 + 44 93 33 C T 203082 7 29 GGTATTTTGATGTAATGGGATTTCTTTATATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG 203053 203223 203081 203082 203082 upstr_intron -16 -0.340909090909091 GGTATTTTGATGTAATGGGATTTCTTTATATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG GGTATTTTGATGTAATGGGATTTCTTTACATTTTGTCTCCTCAGTCCAAGATCAGCCGGCTGCCTGCTTACTTGACCATTCAGATGGTTCGATTTTTTTATAAAGAGAAGGAATCTGTGAATGCCAAAGTTCTTAAGGTTAGTAATGAACTTTACTTTGTATAAGAAATG mutant NA NA NA NA NA 38 12 1 1 1 NA NA 0.982910858321613 0.91281676765763 NA NA 0.0170891416783868 0.0871832323423698 NA 0.947863812989622 NA 0.0521361870103783 NA FALSE NA 0 0.248 NA NA NA USP14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:203082 USP14 HGNC Symbol protein_coding 56246 ENSG00000101557 ENSE00003525154 intron_variant -0.032812 0.23098 0.03549 0.322412 0.450510049562246 0.165161 0.927536807900908 TRUE 4.09578e-06 ENSE00000800090_000 ENSE00000800090 000 1 115138394 115138563 - 59 42 69 NA NA NA NA NA CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 NA NA NA NA NA NA CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT natural NA NA NA NA NA 12888 15245 0.74998870810811 0.733178752572029 0.74158373034007 NA NA 0.74998870810811 0.733178752572029 NA NA 0 0 NA 0.74158373034007 NA 0 NA FALSE NA NA NA NA NA NA DENND2C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2C NA NA NA ENSG00000175984 ENSE00003685879 NA NA NA NA NA NA NA 1.70408687930238e-07 FALSE NA ENSE00000800090_001 ENSE00000800090 001 1 115138394 115138563 - 59 42 69 G A 115138405 3159 159 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTATTGTAGATAATT 114595772 114595942 114595783 114595784 114595784 downstr_intron 48 1.82758620689655 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTATTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 1338 2693 0.804168810034198 0.970937716253087 0.887553263143643 NA NA 0.74998870810811 0.733178752572029 NA NA 0.0541801019260879 0.237758963681059 NA 0.74158373034007 NA 0.145969532803573 NA FALSE NA 0.007 0.087 . intron_variant MODIFIER DENND2C HGNC 24748 ENST00000393274 17/20 rs376207918 1 NA A:0 A:0.0002 AGT G,A 8.236e-06 1:114595784 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant 0.099694 0.3008 0.18495 0.080754 0.531968682683909 0.160427 1.70408687930238e-07 FALSE 4.08597e-06 ENSE00000800090_003 ENSE00000800090 003 1 115138394 115138563 - 59 42 69 C T 115138417 3161 147 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGAATAAATGTCTACTGTAGATAATT 114595772 114595942 114595795 114595796 114595796 downstr_intron 36 1.62068965517241 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGAATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 360 251 0.806248329313279 0.856962356513979 0.831605342913629 NA NA 0.74998870810811 0.733178752572029 NA NA 0.0562596212051689 0.12378360394195 NA 0.74158373034007 NA 0.0900216125735595 NA FALSE NA 0 0.143 . intron_variant MODIFIER DENND2C HGNC 24748 ENST00000393274 17/20 rs200889631 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0002 T:0.0006 TCC C,T 0.001219 1:114595796 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant 0.195469 0.24884 0.03813 0.080754 0.477891916270651 0.0752288 1.70408687930238e-07 FALSE 0.00116843 ENSE00000800090_004 ENSE00000800090 004 1 115138394 115138563 - 59 42 69 C T 115138418 3162 146 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAAGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595796 114595797 114595797 downstr_intron 35 1.60344827586207 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAAGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 27 191 0.947094003959293 0.927284205257648 0.93718910460847 NA NA 0.74998870810811 0.733178752572029 NA NA 0.197105295851182 0.194105452685619 NA 0.74158373034007 NA 0.195605374268401 NA FALSE NA 0.04 1.388 . intron_variant MODIFIER DENND2C HGNC 24748 ENST00000393274 17/20 rs371346767 1 NA T:0.0002 T:0 CCT C,T 8.236e-06 1:114595797 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant 0.306416 0.29577 0.12358 0.080754 0.418305463827774 0.0752288 1.70408687930238e-07 FALSE 4.0709e-06 ENSE00000800090_005 ENSE00000800090 005 1 115138394 115138563 - 59 42 69 A G 115138425 3163 139 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTACGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595803 114595804 114595804 downstr_intron 28 1.48275862068966 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTACGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 3861 428 0.82493624956686 0.831330269241283 0.828133259404071 NA NA 0.74998870810811 0.733178752572029 NA NA 0.0749475414587493 0.098151516669254 NA 0.74158373034007 NA 0.0865495290640017 NA FALSE NA 0.81 1.545 . intron_variant MODIFIER DENND2C HGNC 24748 ENST00000393274 17/20 rs369981583 1 NA G:0.0002 G:0 CAT A,G 9.06e-05 1:114595804 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant -0.013251 0.9518 0.75508 0.080754 0.609985852661922 0.167218 1.70408687930238e-07 FALSE 8.53645e-05 ENSE00000800090_006 ENSE00000800090 006 1 115138394 115138563 - 59 42 69 C T 115138439 3164 125 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGAAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595817 114595818 114595818 downstr_intron 14 1.24137931034483 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGAAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 2107 14 0.846989484761946 0.938899552483429 0.892944518622687 NA NA 0.74998870810811 0.733178752572029 NA NA 0.0970007766538357 0.2057207999114 NA 0.74158373034007 NA 0.151360788282618 NA FALSE NA 0 0.334 . intron_variant MODIFIER DENND2C HGNC 24748 ENST00000393274 17/20 1 NA TCC C,T 8.236e-06 1:114595818 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant 1.370242 0.2448 0.04605 0.080754 0.560289883782939 0.299238 1.70408687930238e-07 FALSE 2.84393e-05 ENSE00000800090_007 ENSE00000800090 007 1 115138394 115138563 - 59 42 69 C T 115138446 3165 118 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTACCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595824 114595825 114595825 downstr_intron 7 1.12068965517241 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTACCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 299 191 0.930982465460275 0.802641079159568 0.866811772309922 NA NA 0.74998870810811 0.733178752572029 NA NA 0.180993757352165 0.0694623265875397 NA 0.74158373034007 NA 0.125228041969852 NA FALSE NA 1 1.297 . splice_region_variant&intron_variant LOW DENND2C HGNC 24748 ENST00000393274 17/20 1 NA GCA C,T 8.236e-06 1:114595825 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 splice_region_variant 1.777013 0.97593 0.43096 0.080754 0.700307223114942 0.403933 1.70408687930238e-07 FALSE 8.12519e-06 ENSE00000800090_008 ENSE00000800090 008 1 115138394 115138563 - 59 42 69 C T 115138452 3166 112 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGATGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595830 114595831 114595831 downstr_intron 1 1.01724137931034 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGATGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 456 516 0.0953671045831681 0.0513743240788215 0.0733707143309948 NA NA 0.74998870810811 0.733178752572029 NA NA -0.654621603524942 -0.681804428493207 NA 0.74158373034007 NA -0.668213016009075 NA TRUE NA 1 6.87 . splice_donor_variant HIGH DENND2C HGNC 24748 ENST00000393274 17/20 1 NA HC ACC C,T 9.06e-05 1:114595831 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 splice_donor_variant 6.217557 0.99574 0.99524 0.080754 0.994762227212 0.985677 1.70408687930238e-07 FALSE 8.53076e-05 ENSE00000800090_009 ENSE00000800090 009 1 115138394 115138563 - 59 42 69 C T 115138455 3167 109 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGAAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595833 114595834 114595834 exon -3 0.952380952380952 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGAAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 2579 603 0.807074729929492 0.800419255349234 0.803746992639363 NA NA 0.74998870810811 0.733178752572029 NA NA 0.0570860218213818 0.0672405027772054 NA 0.74158373034007 NA 0.0621632622992936 NA FALSE NA 1 2.005 rs146178653 missense_variant&splice_region_variant MODERATE DENND2C HGNC 24748 ENST00000393274 17/21 rs146178653 1 deleterious(0.02) possibly_damaging(0.507) T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0025 T:0 TCC C,T 0.0001647 1:114595834 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 missense_variant 6.954262 0.98915 0.96268 0.553676 0.997320605809885 0 1.70408687930238e-07 FALSE 0.000113739 ENSE00000800090_010 ENSE00000800090 010 1 115138394 115138563 - 59 42 69 G A 115138477 3168 87 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTTTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595855 114595856 114595856 exon 18 0.428571428571429 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTTTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 89 255 0.00339228715827626 0.13203930465475 0.0677157959065129 NA NA 0.74998870810811 0.733178752572029 NA NA -0.746596420949834 -0.601139447917279 NA 0.74158373034007 NA -0.673867934433557 NA TRUE NA 1 3.584 . synonymous_variant LOW DENND2C HGNC 24748 ENST00000393274 17/21 1 NA AGA G,A 8.236e-06 1:114595856 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 synonymous_variant 1.126362 0.98562 0.88752 0.553676 0.709604181886302 0 1.70408687930238e-07 FALSE 8.12407e-06 ENSE00000800090_011 ENSE00000800090 011 1 115138394 115138563 - 59 42 69 C T 115138485 3169 79 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAATTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595863 114595864 114595864 exon 10 0.238095238095238 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAATTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 742 362 0.8223524099265 0.82165844816024 0.82200542904337 NA NA 0.74998870810811 0.733178752572029 NA NA 0.0723637018183896 0.0884796955882117 NA 0.74158373034007 NA 0.0804216987033006 NA FALSE NA 1 7.152 . missense_variant MODERATE DENND2C HGNC 24748 ENST00000393274 17/21 rs547076425 1 deleterious(0.01) probably_damaging(0.992) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACT C,T 3.295e-05 1:114595864 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 missense_variant 6.901119 0.99574 0.99609 0.553676 0.998823009511799 0 1.70408687930238e-07 FALSE 1.62499e-05 ENSE00000800090_013 ENSE00000800090 013 1 115138394 115138563 - 59 42 69 A G 115138497 3171 67 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCACAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595875 114595876 114595876 upstr_intron -3 -0.0289855072463768 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCACAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant 61 20 0.85 0.85 0.85 197 248 0.965336381928637 0.921786969792205 0.943561675860421 NA NA 0.74998870810811 0.733178752572029 NA NA 0.215347673820526 0.188608217220176 NA 0.74158373034007 NA 0.201977945520351 NA FALSE NA 0.905 -0.01 . splice_region_variant&intron_variant LOW DENND2C HGNC 24748 ENST00000393274 16/20 1 NA TAT A,G 8.236e-06 1:114595876 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 splice_region_variant 0.953715 0.83282 0.43025 0.053691 0.638148873015945 0.408944 1.70408687930238e-07 FALSE 4.06289e-06 ENSE00000800090_014 ENSE00000800090 014 1 115138394 115138563 - 59 42 69 G A 115138508 3172 56 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTTCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595886 114595887 114595887 upstr_intron -14 -0.188405797101449 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTTCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 452 625 1 0.993354166408823 0.996677083204412 NA NA 0.74998870810811 0.733178752572029 NA NA 0.25001129189189 0.260175413836794 NA 0.74158373034007 NA 0.255093352864342 NA FALSE NA 0.972 0.819 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:114595887 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant 1.938602 0.94311 0.5996 0.053691 0.537189001428489 0.386284 1.70408687930238e-07 FALSE 4.06646e-06 ENSE00000800090_015 ENSE00000800090 015 1 115138394 115138563 - 59 42 69 G C 115138508 3173 56 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTGCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595886 114595887 114595887 upstr_intron -14 -0.188405797101449 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTGCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 660 552 0.901226393770808 0.867599110632452 0.88441275220163 NA NA 0.74998870810811 0.733178752572029 NA NA 0.151237685662697 0.134420358060423 NA 0.74158373034007 NA 0.14282902186156 NA FALSE NA 0.972 0.819 NA NA NA DENND2C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2C NA NA NA ENSG00000175984 ENSE00003685879 intron_variant 1.553054 0.94629 0.70952 0.053691 0.657211636803546 0.386284 1.70408687930238e-07 FALSE 4.06646e-06 ENSE00000800090_016 ENSE00000800090 016 1 115138394 115138563 - 59 42 69 A T 115138524 3174 40 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGATGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595902 114595903 114595903 upstr_intron -30 -0.420289855072464 CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGATGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 224 255 0.791256973756851 0.80353127537114 0.797394124563995 NA NA 0.74998870810811 0.733178752572029 NA NA 0.0412682656487405 0.0703525227991111 NA 0.74158373034007 NA 0.0558103942239258 NA FALSE NA 0.711 1.312 . intron_variant MODIFIER DENND2C HGNC 24748 ENST00000393274 16/20 1 NA AAC A,T 8.236e-06 1:114595903 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant 2.384129 0.98466 0.94551 0.053691 0.749183940196709 0.317695 1.70408687930238e-07 FALSE 4.07339e-06 ENSE00000800090_017 ENSE00000800090 017 1 115138394 115138563 - 59 42 69 G A 115138540 3175 24 CTATTCTCATTGCCTGTATTTGTTTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595918 114595919 114595919 upstr_intron -46 -0.652173913043478 CTATTCTCATTGCCTGTATTTGTTTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 130 804 0.901497144941515 0.798458234421464 0.849977689681489 NA NA 0.74998870810811 0.733178752572029 NA NA 0.151508436833404 0.0652794818494358 NA 0.74158373034007 NA 0.10839395934142 NA FALSE NA 0.715 1.476 . intron_variant MODIFIER DENND2C HGNC 24748 ENST00000393274 16/20 1 NA AGA G,A 1.647e-05 1:114595919 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant 1.823203 0.70642 0.72232 0.053691 0.455501491246537 0.298756 1.70408687930238e-07 FALSE 8.27458e-06 ENSE00000800090_018 ENSE00000800090 018 1 115138394 115138563 - 59 42 69 C T 115138542 3176 22 CTATTCTCATTGCCTGTATTTATCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 114595920 114595921 114595921 upstr_intron -48 -0.681159420289855 CTATTCTCATTGCCTGTATTTATCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT mutant NA NA NA NA NA 51 72 0.803154920836348 0.8 0.801577460418174 NA NA 0.74998870810811 0.733178752572029 NA NA 0.0531662127282376 0.0668212474279714 NA 0.74158373034007 NA 0.0599937300781045 NA FALSE NA 0.199 -0.366 . intron_variant MODIFIER DENND2C HGNC 24748 ENST00000393274 16/20 1 NA ACA C,T 1.647e-05 1:114595921 DENND2C HGNC Symbol protein_coding 87574 ENSG00000175984 ENSE00003685879 intron_variant 1.640345 0.17677 0.02262 0.053691 0.563031957323033 0.208768 1.70408687930238e-07 FALSE 8.3002e-06 ENSE00000800090_BRK ENSE00000800090 BRK 1 115138394 115138563 - 59 42 69 A,G; T,T NA NA NA CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATTTGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGCCGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT 114595772 114595942 NA NA NA NA NA NA CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATTTGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGCCGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT CTATTCTCATTGCCTGTATTTGTCTGTGAATGTCTCTGGTTGAACTTGCCTGGCTCCTTTATTTCATAGGTGCTGATAGTTGATCTCTGTGCAGACAAGTTCTTACAGGAGGTGAGTGCCAAAGGAGGTAATTACTTATGTTTTAGGATAAATGTCTACTGTAGATAATT control 460 50 0.0588442730318077 0 0.0294221365159038 87 2114 0 0.173414301649395 0.0867071508246973 NA NA 0.74998870810811 0.733178752572029 NA NA -0.74998870810811 -0.559764450922634 NA 0.74158373034007 NA -0.654876579515372 NA TRUE NA NA NA NA NA NA DENND2C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2C NA NA NA ENSG00000175984 ENSE00003685879 NA NA NA NA NA NA NA 1.70408687930238e-07 FALSE NA ENSE00000801180_000 ENSE00000801180 000 4 89016637 89016806 - 35 90 45 NA NA NA NA NA GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 NA NA NA NA NA NA GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC natural 133 162 0.998218218578381 0.994488512725645 0.996353365652013 4444 2900 0.991984691738989 0.91516576499429 0.953575228366639 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 0 0 0 0 0.996353365652013 0.953575228366639 0 0 0 FALSE FALSE NA NA NA NA NA ABCG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCG2 NA NA NA ENSG00000118777 ENSE00000801180 NA NA NA NA NA NA NA 1.37099444079211e-18 FALSE NA ENSE00000801180_001 ENSE00000801180 001 4 89016637 89016806 - 35 90 45 A G 89016649 933 158 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACCGTGACTGCATTC 88095484 88095654 88095496 88095497 88095497 downstr_intron 23 1.67647058823529 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACCGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 96 1742 0.943633616500245 0.998215240070075 0.97092442828516 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA -0.048351075238744 0.0830494750757853 0.996353365652013 0.953575228366639 NA 0.0173491999185206 NA FALSE NA 0.003 0.157 . intron_variant MODIFIER ABCG2 HGNC 74 ENST00000515655 14/15 1 NA CAG A,G 1.647e-05 4:88095497 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 intron_variant -0.244031 0.2347 0.08349 0.06567 0.252667184254525 0.0503791 1.37099444079211e-18 FALSE 1.22041e-05 ENSE00000801180_003 ENSE00000801180 003 4 89016637 89016806 - 35 90 45 C T 89016658 935 149 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTATCTGTCACTGTGACTGCATTC 88095484 88095654 88095505 88095506 88095506 downstr_intron 14 1.41176470588235 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTATCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 518 356 1 0.990123075591046 0.995061537795523 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA 0.00801530826101082 0.0749573105967559 0.996353365652013 0.953575228366639 NA 0.0414863094288834 NA FALSE NA 0 -3.777 . intron_variant MODIFIER ABCG2 HGNC 74 ENST00000515655 14/15 1 NA ACA C,T 8.237e-06 4:88095506 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 intron_variant 0.033125 0.09752 0.00708 0.06567 0.321351297685105 0.0484652 1.37099444079211e-18 FALSE 8.13286e-06 ENSE00000801180_010 ENSE00000801180 010 4 89016637 89016806 - 35 90 45 T C 89016684 942 123 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGGTATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095531 88095532 88095532 exon -13 0.866666666666667 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGGTATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 505 965 0.995959682365306 0.995665443109813 0.995812562737559 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA 0.00397499062631668 0.0804996781155233 0.996353365652013 0.953575228366639 NA 0.04223733437092 NA FALSE NA 0.704 -0.277 . missense_variant MODERATE ABCG2 HGNC 74 ENST00000515655 14/16 1 tolerated_low_confidence(0.29) benign(0) NA ATC T,C 8.236e-06 4:88095532 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 missense_variant -0.118783 0.97507 0.67706 0.615465 0.977087731424865 0 1.37099444079211e-18 FALSE 4.06481e-06 ENSE00000801180_014 ENSE00000801180 014 4 89016637 89016806 - 35 90 45 T G 89016695 946 112 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCCGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095542 88095543 88095543 exon -24 0.744444444444444 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCCGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 67 612 1 0.9927170144058 0.9963585072029 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA 0.00801530826101082 0.0775512494115106 0.996353365652013 0.953575228366639 NA 0.0427832788362607 NA FALSE NA 1 7.728 . synonymous_variant LOW ABCG2 HGNC 74 ENST00000515655 14/16 rs200894058 1 NA CTG T,G 6.589e-05 4:88095543 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 missense_variant 6.719101 0.99479 0.99011 0.615465 0.998537090550938 0 1.37099444079211e-18 FALSE 0.000109743 ENSE00000801180_015 ENSE00000801180 015 4 89016637 89016806 - 35 90 45 T C 89016703 947 104 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCGGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095550 88095551 88095551 exon -32 0.655555555555556 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCGGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 2155 549 0.999137407948237 0.876684180543855 0.937910794246046 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA 0.00715271620924829 -0.0384815844504346 0.996353365652013 0.953575228366639 NA -0.0156644341205932 NA FALSE NA 1 4.853 . missense_variant MODERATE ABCG2 HGNC 74 ENST00000515655 14/16 1 deleterious_low_confidence(0.01) benign(0.077) NA CTG T,C 8.236e-06 4:88095551 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 missense_variant 2.672855 0.99075 0.96296 0.615465 0.997702312230773 0 1.37099444079211e-18 FALSE 8.12942e-06 ENSE00000801180_016 ENSE00000801180 016 4 89016637 89016806 - 35 90 45 C G 89016714 948 93 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTCTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095561 88095562 88095562 exon -43 0.533333333333333 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTCTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 570 176 0.996705033296201 1 0.998352516648101 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA 0.00472034155721213 0.0848342350057104 0.996353365652013 0.953575228366639 NA 0.0447772882814613 NA FALSE NA 0.001 -0.849 . missense_variant MODERATE ABCG2 HGNC 74 ENST00000515655 14/16 1 tolerated_low_confidence(0.53) benign(0) NA ACA C,G 8.236e-06 4:88095562 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 missense_variant 0.301186 0.15888 0.01803 0.615465 0.215462921935805 0 1.37099444079211e-18 FALSE 4.06412e-06 ENSE00000801180_017 ENSE00000801180 017 4 89016637 89016806 - 35 90 45 T C 89016728 949 79 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCGTTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095575 88095576 88095576 exon 34 0.377777777777778 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCGTTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 752 67 1 1 1 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA 0.00801530826101082 0.0848342350057104 0.996353365652013 0.953575228366639 NA 0.0464247716333606 NA FALSE NA 0.002 -1.134 rs149392546 synonymous_variant LOW ABCG2 HGNC 74 ENST00000515655 14/16 rs149392546 1 NA C:0.0002 C:0 ATG T,C 8.236e-06 4:88095576 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 missense_variant -0.201674 0.95479 0.12915 0.615465 0.41958643907734 0 1.37099444079211e-18 FALSE 4.06388e-06 ENSE00000801180_018 ENSE00000801180 018 4 89016637 89016806 - 35 90 45 T C 89016731 950 76 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAGCCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095578 88095579 88095579 exon 31 0.344444444444444 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAGCCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 363 2160 0.8 0.802800136846435 0.801400068423218 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA -0.191984691738989 -0.112365628147854 0.996353365652013 0.953575228366639 NA -0.152175159943422 NA FALSE NA 1 3.133 . synonymous_variant LOW ABCG2 HGNC 74 ENST00000515655 14/16 1 NA GTT T,C 1.647e-05 4:88095579 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 missense_variant 1.491306 0.99064 0.93946 0.615465 0.978011124183778 0 1.37099444079211e-18 FALSE 8.12777e-06 ENSE00000801180_019 ENSE00000801180 019 4 89016637 89016806 - 35 90 45 T C 89016739 951 68 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAGTCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095586 88095587 88095587 exon 23 0.255555555555556 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAGTCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 894 1568 0.976251435148153 0.997023642788798 0.986637538968475 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA -0.0157332565908365 0.0818578777945084 0.996353365652013 0.953575228366639 NA 0.033062310601836 NA FALSE NA 1 5.98 . missense_variant MODERATE ABCG2 HGNC 74 ENST00000515655 14/16 1 tolerated_low_confidence(0.22) benign(0.001) NA ATT T,C 8.236e-06 4:88095587 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 missense_variant 4.515416 0.99459 0.9797 0.615465 0.975965425240152 0 1.37099444079211e-18 FALSE 4.06385e-06 ENSE00000801180_020 ENSE00000801180 020 4 89016637 89016806 - 35 90 45 C A 89016744 952 63 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTTGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095591 88095592 88095592 exon 18 0.2 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTTGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 312 1723 0.931065701748313 0.996568446285943 0.963817074017128 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA -0.0609189899906766 0.0814026812916532 0.996353365652013 0.953575228366639 NA 0.0102418456504883 NA FALSE NA 1 1.883 . missense_variant MODERATE ABCG2 HGNC 74 ENST00000515655 14/16 1 tolerated_low_confidence(0.61) benign(0.001) NA CCA C,A 8.236e-06 4:88095592 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 missense_variant 4.234821 0.9905 0.94457 0.615465 0.704025756141704 0 1.37099444079211e-18 FALSE 4.06458e-06 ENSE00000801180_021 ENSE00000801180 021 4 89016637 89016806 - 35 90 45 T C 89016753 953 54 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCGGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095600 88095601 88095601 exon 9 0.1 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCGGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 653 22 0.993705653915354 0.998251164168762 0.995978409042058 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA 0.00172096217636508 0.0830853991744728 0.996353365652013 0.953575228366639 NA 0.0424031806754189 NA FALSE NA 0.007 -1.009 . splice_acceptor_variant HIGH ABCG2 HGNC 74 ENST00000515655 13/15 1 NA HC CTG T,C 1.647e-05 4:88095601 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 splice_acceptor_variant -0.676533 0.54727 0.11243 0.615465 0.60475888714021 0 1.37099444079211e-18 FALSE NA ENSE00000801180_022 ENSE00000801180 022 4 89016637 89016806 - 35 90 45 A T 89016769 954 38 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTATTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095616 88095617 88095617 upstr_intron -8 -0.155555555555556 GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTATTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 810 665 0.999184245223676 0.945891552331492 0.972537898777584 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA 0.00719955348468715 0.0307257873372025 0.996353365652013 0.953575228366639 NA 0.0189626704109448 NA FALSE NA 0 -0.572 . intron_variant MODIFIER ABCG2 HGNC 74 ENST00000515655 13/15 1 NA AAA A,T 1.647e-05 4:88095617 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 splice_region_variant -0.669925 0.38079 0.23584 0.06567 0.329910952271714 0.151466 1.37099444079211e-18 FALSE 1.62791e-05 ENSE00000801180_023 ENSE00000801180 023 4 89016637 89016806 - 35 90 45 A G 89016782 955 25 GAAATTACTCAAGCAGGCCTGACTCTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 88095629 88095630 88095630 upstr_intron -21 -0.444444444444444 GAAATTACTCAAGCAGGCCTGACTCTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC mutant NA NA NA NA NA 3013 254 0.983107560346404 1 0.991553780173202 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 NA NA -0.00887713139258484 0.0848342350057104 0.996353365652013 0.953575228366639 NA 0.0379785518065628 NA FALSE NA 0.146 0.344 rs2231162 intron_variant MODIFIER ABCG2 HGNC 74 ENST00000515655 13/15 rs2231162 1 A:0.2418 G:0.5045 G:0.7651 NA G:0.7808 G:0.9523 G:0.8732 G:0.5613 G:0.9645 AAA G,G 0.884 4:88095630 ABCG2 HGNC Symbol protein_coding 141058 ENSG00000118777 ENSE00000801180 intron_variant 0.112688 0.16817 0.00816 0.06567 0.655665457561191 0.0443366 1.37099444079211e-18 FALSE 0.886198 ENSE00000801180_BRK ENSE00000801180 BRK 4 89016637 89016806 - 35 90 45 A,G; T,T NA NA NA GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTTTATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGCCATGTCTTCCTTGTCTGTCACTGTGACTGCATTC 88095484 88095654 NA NA NA NA NA NA GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTTTATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGCCATGTCTTCCTTGTCTGTCACTGTGACTGCATTC GAAATTACTCAAGCAGGCCTGACTTTTAGTATTTGCTTTTTGTAGATTTTTTCAGGTCTGTTGGTCAATCTCACAACCATTGCATCTTGGCTGTCATGGCTTCAGTACTTCAGCATTCCACGATATGGATTTACGGTATGTCTTCCTTGTCTGTCACTGTGACTGCATTC control 67 199 0.85 0.811330583091717 0.830665291545859 23 304 0.8 0.963456122833345 0.881728061416673 0.998218218578381 0.994488512725645 0.991984691738989 0.91516576499429 -0.148218218578381 -0.183157929633928 -0.191984691738989 0.0482903578390559 0.996353365652013 0.953575228366639 -0.165688074106155 -0.0718471669499666 0.0938409071561882 FALSE FALSE NA NA NA NA NA ABCG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCG2 NA NA NA ENSG00000118777 ENSE00000801180 NA NA NA NA NA NA NA 1.37099444079211e-18 FALSE NA ENSE00000801437_000 ENSE00000801437 000 4 103458974 103459143 + 41 99 30 NA NA NA NA NA GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG 102537816 102537986 NA NA NA NA NA NA GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG natural 87 127 0.99679558893538 0.98119814486111 0.988996866898245 9067 8516 0.974099064653146 0.937317161968727 0.955708113310936 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 0 0 0 0 0.988996866898245 0.955708113310936 0 0 0 FALSE FALSE NA NA NA NA NA NFKB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFKB1 NA NA NA ENSG00000109320 ENSE00003529712 NA NA NA NA NA NA NA 0.994260375128404 TRUE NA ENSE00000801437_001 ENSE00000801437 001 4 103458974 103459143 + 41 99 30 A G 103458990 1038 17 GTATTTCTCAAACTTAGTTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG 102537816 102537986 102537832 102537833 102537833 upstr_intron -25 -0.585365853658537 GTATTTCTCAAACTTAGTTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG mutant NA NA NA NA NA 1603 473 0.654517172096962 0.664083170728403 0.659300171412682 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 NA NA -0.319581892556184 -0.273233991240324 0.988996866898245 0.955708113310936 NA -0.296407941898254 NA FALSE NA 0 0 . intron_variant MODIFIER NFKB1 HGNC 7794 ENST00000511926 5/5 1 NA AAT A,G 8.237e-06 4:102537833 NFKB1 HGNC Symbol protein_coding 115973 ENSG00000109320 ENSE00003529712 non_coding_transcript_exon_variant 0.900205 0.19328 0.0031 0.295142 0.56648236201715 0.106771 0.994260375128404 TRUE 4.30474e-06 ENSE00000801437_002 ENSE00000801437 002 4 103458974 103459143 + 41 99 30 C T 103458995 1039 22 GTATTTCTCAAACTTAATTGGTTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG 102537816 102537986 102537837 102537838 102537838 upstr_intron -20 -0.463414634146341 GTATTTCTCAAACTTAATTGGTTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG mutant NA NA NA NA NA 677 771 1 0.971654607611817 0.985827303805908 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 NA NA 0.0259009353468543 0.0343374456430896 0.988996866898245 0.955708113310936 NA 0.030119190494972 NA FALSE NA 0 -0.398 . intron_variant MODIFIER NFKB1 HGNC 7794 ENST00000511926 5/5 1 NA GCT C,T 4.118e-05 4:102537838 NFKB1 HGNC Symbol protein_coding 115973 ENSG00000109320 ENSE00003529712 non_coding_transcript_exon_variant 0.199753 0.14069 0.00388 0.295142 0.678139665621638 0.106771 0.994260375128404 TRUE 2.92762e-05 ENSE00000801437_003 ENSE00000801437 003 4 103458974 103459143 + 41 99 30 C T 103459000 1040 27 GTATTTCTCAAACTTAATTGGCTTAATGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG 102537816 102537986 102537842 102537843 102537843 upstr_intron -15 -0.341463414634146 GTATTTCTCAAACTTAATTGGCTTAATGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG mutant NA NA NA NA NA 602 1127 1 0.99996622474101 0.999983112370505 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 NA NA 0.0259009353468543 0.0626490627722825 0.988996866898245 0.955708113310936 NA 0.0442749990595684 NA FALSE NA 0.714 1.041 . intron_variant MODIFIER NFKB1 HGNC 7794 ENST00000511926 5/5 1 NA ACG C,T 0.0001071 4:102537843 NFKB1 HGNC Symbol protein_coding 115973 ENSG00000109320 ENSE00003529712 non_coding_transcript_exon_variant 1.332291 0.74626 0.00215 0.295142 0.808188904866761 0.62462 0.994260375128404 TRUE 0.000128382 ENSE00000801437_004 ENSE00000801437 004 4 103458974 103459143 + 41 99 30 G A 103459001 1041 28 GTATTTCTCAAACTTAATTGGCTTAACATTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG 102537816 102537986 102537843 102537844 102537844 upstr_intron -14 -0.317073170731707 GTATTTCTCAAACTTAATTGGCTTAACATTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG mutant NA NA NA NA NA 423 657 0.98835039826227 0.989003189305938 0.988676793784104 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 NA NA 0.0142513336091239 0.0516860273372105 0.988996866898245 0.955708113310936 NA 0.0329686804731672 NA FALSE NA 0.743 0.171 . intron_variant MODIFIER NFKB1 HGNC 7794 ENST00000511926 5/5 1 NA CGT G,A 0.0001236 4:102537844 NFKB1 HGNC Symbol protein_coding 115973 ENSG00000109320 ENSE00003529712 non_coding_transcript_exon_variant 1.450305 0.8022 0.06313 0.295142 0.760824840121076 0.107696 0.994260375128404 TRUE 0.000120005 ENSE00000801437_006 ENSE00000801437 006 4 103458974 103459143 + 41 99 30 G A 103459095 1043 122 GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAATCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG 102537816 102537986 102537937 102537938 102537938 exon -19 0.818181818181818 GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAATCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG mutant NA NA NA NA NA 1085 1103 0.904392788878489 0.958646955742813 0.931519872310651 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 NA NA -0.0697062757746567 0.0213297937740863 0.988996866898245 0.955708113310936 NA -0.0241882410002852 NA FALSE NA 0.995 0.412 . downstream_gene_variant MODIFIER NFKB1 HGNC 7794 ENST00000511926 1 NA AGT G,A 8.236e-06 4:102537938 NFKB1 HGNC Symbol protein_coding 115973 ENSG00000109320 ENSE00003529712 synonymous_variant 1.658208 0.96986 0.67855 0.706298 0.618300829283909 0 0.994260375128404 TRUE 8.14452e-06 ENSE00000801437_007 ENSE00000801437 007 4 103458974 103459143 + 41 99 30 T C 103459104 1044 131 GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCCCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG 102537816 102537986 102537946 102537947 102537947 exon -10 0.909090909090909 GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCCCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG mutant NA NA NA NA NA 277 55 0.984540127784484 1 0.992270063892242 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 NA NA 0.0104410631313385 0.0626828380312728 0.988996866898245 0.955708113310936 NA 0.0365619505813057 NA FALSE NA 0.119 -1.143 . downstream_gene_variant MODIFIER NFKB1 HGNC 7794 ENST00000511926 1 NA CTC T,C 1.647e-05 4:102537947 NFKB1 HGNC Symbol protein_coding 115973 ENSG00000109320 ENSE00003529712 synonymous_variant 0.11019 0.37877 0.04469 0.706298 0.551124669685228 0 0.994260375128404 TRUE 8.21652e-06 ENSE00000801437_008 ENSE00000801437 008 4 103458974 103459143 + 41 99 30 T C 103459130 1045 157 GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCCCTCCTTCTATTTG 102537816 102537986 102537972 102537973 102537973 downstr_intron 17 1.58620689655172 GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCCCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG mutant NA NA NA NA NA 494 310 0.983685650218458 0.983811216635734 0.983748433427096 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 NA NA 0.00958658556531267 0.0464940546670068 0.988996866898245 0.955708113310936 NA 0.0280403201161598 NA FALSE NA 0.001 1.804 . downstream_gene_variant MODIFIER NFKB1 HGNC 7794 ENST00000511926 1 NA CTC T,C 3.295e-05 4:102537973 NFKB1 HGNC Symbol protein_coding 115973 ENSG00000109320 ENSE00003529712 intron_variant -0.14085 0.22616 0.27769 0.099367 0.415984076888743 0.0708573 0.994260375128404 TRUE 2.87408e-05 ENSE00000801437_BRK ENSE00000801437 BRK 4 103458974 103459143 + 41 99 30 A,G; T,T NA NA NA GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCTTAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAACCAAGTTTGTGGTAGCTCTCCTTCTATTTG 102537816 102537986 NA NA NA NA NA NA GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCTTAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAACCAAGTTTGTGGTAGCTCTCCTTCTATTTG GTATTTCTCAAACTTAATTGGCTTAACGTTCACCTTTGCAGAGAGGATTTCGTTTCCGTTATGTATGTGAAGGCCCATCCCATGGTGGACTACCTGGTGCCTCTAGTGAAAAGAACAAGAAGTCTTACCCTCAGGTCAAAGTAAGTTTGTGGTAGCTCTCCTTCTATTTG control NA NA NA NA NA 301 971 0 0 0 0.99679558893538 0.98119814486111 0.974099064653146 0.937317161968727 NA NA -0.974099064653146 -0.937317161968727 0.988996866898245 0.955708113310936 NA -0.955708113310936 NA TRUE NA NA NA NA NA NA NFKB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFKB1 NA NA NA ENSG00000109320 ENSE00003529712 NA NA NA NA NA NA NA 0.994260375128404 TRUE NA ENSE00000801676_000 ENSE00000801676 000 3 158431538 158431707 - 48 63 59 NA NA NA NA NA ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 NA NA NA NA NA NA GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT natural 106 126 0.99412421290639 0.998876635660168 0.996500424283279 10456 6018 0.718962849578162 0.833485042170825 0.776223945874494 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 0 0 0 0 0.996500424283279 0.776223945874494 0 0 0 FALSE FALSE NA NA NA NA NA RARRES1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RARRES1 NA NA NA ENSG00000118849 ENSE00003697725 NA NA NA NA NA NA NA 8.40651968753382e-07 FALSE NA ENSE00000801676_001 ENSE00000801676 001 3 158431538 158431707 - 48 63 59 T C 158431549 3463 159 ATTTATAGCAGCTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713759 158713760 158713760 downstr_intron 37 1.78723404255319 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAGCTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 1994 1884 0.941404772028476 0.998845884186047 0.970125328107261 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.222441922450314 0.165360842015222 0.996500424283279 0.776223945874494 NA 0.193901382232768 NA FALSE NA 0 -0.117 . intron_variant MODIFIER RARRES1 HGNC 9867 ENST00000479756 2/3 1 NA GTT T,C 8.236e-06 3:158713760 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 intron_variant 0.094259 0.18102 0.07953 0.106106 0.678139889693976 0.0491903 8.40651968753382e-07 FALSE 1.26496e-05 ENSE00000801676_002 ENSE00000801676 002 3 158431538 158431707 - 48 63 59 G A 158431559 3464 149 ATTTATAGCAGTTGCTAATAGAATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713769 158713770 158713770 downstr_intron 27 1.57446808510638 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATTCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 1812 2056 0.999636047276335 0.993806593450612 0.996721320363473 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.280673197698173 0.160321551279787 0.996500424283279 0.776223945874494 NA 0.22049737448898 NA FALSE NA 0 0.422 . intron_variant MODIFIER RARRES1 HGNC 9867 ENST00000479756 2/3 1 NA GGA G,A 8.236e-06 3:158713770 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 intron_variant 0.54949 0.16689 0.11346 0.088506 0.803063344913665 0.0491903 8.40651968753382e-07 FALSE 4.13661e-06 ENSE00000801676_004 ENSE00000801676 004 3 158431538 158431707 - 48 63 59 A G 158431571 3466 137 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAGTTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713781 158713782 158713782 downstr_intron 15 1.31914893617021 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAACTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 969 1684 0.995884657044232 0.99972494778455 0.997804802414391 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.27692180746607 0.166239905613725 0.996500424283279 0.776223945874494 NA 0.221580856539897 NA FALSE NA 0 0.133 rs188752016 intron_variant MODIFIER RARRES1 HGNC 9867 ENST00000479756 2/3 rs188752016 1 G:0.0010 G:0.0008 G:0.0029 NA G:0 G:0.002 G:0 G:0 G:0.0023 AAT A,G 0.0009884 3:158713782 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 intron_variant 0.076469 0.16525 0.04624 0.088506 0.238679703195655 0.0484815 8.40651968753382e-07 FALSE 0.000890476 ENSE00000801676_005 ENSE00000801676 005 3 158431538 158431707 - 48 63 59 C T 158431578 3467 130 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGTAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713788 158713789 158713789 downstr_intron 8 1.17021276595745 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTACCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 902 664 0.997565582489158 0.999761744832213 0.998663663660685 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.278602732910996 0.166276702661388 0.996500424283279 0.776223945874494 NA 0.222439717786192 NA FALSE NA 0.002 -0.127 . splice_region_variant&intron_variant LOW RARRES1 HGNC 9867 ENST00000479756 2/3 1 NA GCA C,T 8.236e-06 3:158713789 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 splice_region_variant 0.069064 0.16602 0.05987 0.106106 0.349972534860219 0.0492413 8.40651968753382e-07 FALSE 4.14962e-06 ENSE00000801676_007 ENSE00000801676 007 3 158431538 158431707 - 48 63 59 C T 158431599 3469 109 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGTGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713809 158713810 158713810 exon -14 0.793650793650794 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCACTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 994 365 0.995258038381584 0.999566459470325 0.997412248925954 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.276295188803422 0.1660814172995 0.996500424283279 0.776223945874494 NA 0.221188303051461 NA FALSE NA 0 -1.865 . missense_variant MODERATE RARRES1 HGNC 9867 ENST00000479756 2/4 1 tolerated(0.53) benign(0.05) NA GCG C,T 3.295e-05 3:158713810 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 missense_variant 1.91111 0.1644 0.02177 0.51972 0.864244200610428 0 8.40651968753382e-07 FALSE 2.03283e-05 ENSE00000801676_008 ENSE00000801676 008 3 158431538 158431707 - 48 63 59 G A 158431600 3470 108 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCACTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713810 158713811 158713811 exon -15 0.777777777777778 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGTGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 1269 1444 0.995705349324916 0.996504309104308 0.996104829214612 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.276742499746754 0.163019266933483 0.996500424283279 0.776223945874494 NA 0.219880883340118 NA FALSE NA 0 -0.007 . missense_variant MODERATE RARRES1 HGNC 9867 ENST00000479756 2/4 rs367969956 1 tolerated(0.18) probably_damaging(0.95) NA A:0.0005 A:0 CGC G,A 3.295e-05 3:158713811 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 missense_variant 3.378097 0.14011 0.04763 0.51972 0.991264652579996 0 8.40651968753382e-07 FALSE 2.03166e-05 ENSE00000801676_009 ENSE00000801676 009 3 158431538 158431707 - 48 63 59 C T 158431603 3471 105 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTTTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713813 158713814 158713814 exon -18 0.73015873015873 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAAAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 1697 1138 0.980192158342184 0.909305471555035 0.944748814948609 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.261229308764022 0.0758204293842097 0.996500424283279 0.776223945874494 NA 0.168524869074116 NA FALSE NA 0.996 1.268 . missense_variant MODERATE RARRES1 HGNC 9867 ENST00000479756 2/4 1 tolerated(0.1) probably_damaging(0.949) NA TCT C,T 8.236e-06 3:158713814 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 missense_variant 2.757888 0.41892 0.51797 0.51972 0.992532139776508 0 8.40651968753382e-07 FALSE 1.62484e-05 ENSE00000801676_010 ENSE00000801676 010 3 158431538 158431707 - 48 63 59 T C 158431609 3472 99 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCCGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713819 158713820 158713820 exon -24 0.634920634920635 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCGGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 683 1117 0.979582725808745 0.999965922301589 0.989774324055167 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.260619876230583 0.166480880130764 0.996500424283279 0.776223945874494 NA 0.213550378180674 NA FALSE NA 1 3.491 rs148853178 missense_variant MODERATE RARRES1 HGNC 9867 ENST00000479756 2/4 rs148853178 1 deleterious(0) possibly_damaging(0.798) NA C:0.0002 C:0 CTG T,C 8.236e-06 3:158713820 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 missense_variant 4.719844 0.92216 0.84335 0.51972 0.997948190839276 0 8.40651968753382e-07 FALSE 1.21838e-05 ENSE00000801676_011 ENSE00000801676 011 3 158431538 158431707 - 48 63 59 C T 158431618 3473 90 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCATGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713828 158713829 158713829 exon 31 0.492063492063492 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACATGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 2773 521 0.994370244942133 0.997769785117519 0.996070015029826 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.275407395363971 0.164284742946694 0.996500424283279 0.776223945874494 NA 0.219846069155332 NA FALSE NA 0.992 -0.023 . missense_variant MODERATE RARRES1 HGNC 9867 ENST00000479756 2/4 rs544435542 1 deleterious(0.01) probably_damaging(0.923) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 2.471e-05 3:158713829 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 missense_variant 4.834791 0.83034 0.37543 0.51972 0.997495052571735 0 8.40651968753382e-07 FALSE 2.43679e-05 ENSE00000801676_012 ENSE00000801676 012 3 158431538 158431707 - 48 63 59 G A 158431619 3474 89 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACATGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713829 158713830 158713830 exon 30 0.476190476190476 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCATGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 562 1064 0.976391226519739 0.990975190875026 0.983683208697382 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.257428376941577 0.157490148704201 0.996500424283279 0.776223945874494 NA 0.207459262822889 NA FALSE NA 0.994 0.824 . synonymous_variant LOW RARRES1 HGNC 9867 ENST00000479756 2/4 1 NA CGT G,A 1.647e-05 3:158713830 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 synonymous_variant 0.327562 0.78863 0.51894 0.51972 0.376524536413405 0 8.40651968753382e-07 FALSE 2.03077e-05 ENSE00000801676_013 ENSE00000801676 013 3 158431538 158431707 - 48 63 59 T C 158431639 3475 69 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTCTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 158713849 158713850 158713850 exon 10 0.158730158730159 GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAGAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 1144 475 1 0.981388451564868 0.990694225782434 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.281037150421838 0.147903409394043 0.996500424283279 0.776223945874494 NA 0.214470279907941 NA FALSE NA 0 -0.109 . missense_variant MODERATE RARRES1 HGNC 9867 ENST00000479756 2/4 1 tolerated(0.37) benign(0.039) NA TTT T,C 2.471e-05 3:158713850 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 missense_variant -1.406345 0.16204 0.04291 0.554377 0.324790545981857 0 8.40651968753382e-07 FALSE 1.62452e-05 ENSE00000801676_016 ENSE00000801676 016 3 158431538 158431707 - 48 63 59 T C 158431686 3478 22 ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTACCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATCTGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCCCCCTTAAACATCCTCATATCC 158713748 158713918 158713896 158713897 158713897 upstr_intron -38 -0.627118644067797 GGATATGAGGATGTTTAAGGGGGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT mutant NA NA NA NA NA 857 785 0.99947057624353 1 0.999735288121765 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 NA NA 0.280507726665368 0.166514957829175 0.996500424283279 0.776223945874494 NA 0.223511342247271 NA FALSE NA 0.001 0.204 rs115487973 intron_variant MODIFIER RARRES1 HGNC 9867 ENST00000479756 1/3 rs115487973 1 C:0.0218 C:0.0787 C:0.0072 NA C:0 C:0 C:0 C:0.0558 C:0 CTC T,C 0.005815 3:158713897 RARRES1 HGNC Symbol protein_coding 35804 ENSG00000118849 ENSE00003697725 intron_variant -0.122959 0.18482 0.07487 0.088506 0.441575303860882 0.046323 8.40651968753382e-07 FALSE 0.00452997 ENSE00000801676_BRK ENSE00000801676 BRK 3 158431538 158431707 - 48 63 59 A,G; T,T NA NA NA ATTTATAGCAGTTGCTAATAGGATACTTTGCCAATTGTGGCAGCTTGGCTCTGGGTTGTAGCGCTCTGTGCTGAAGACCACGTGAACTTTACATCCCTCTTTTGGATTAATAAGGAACACAGAAACTGAATCTTAGTATAGTAGAAGCTCCCTTAAACATCCTCATATCC 158713748 158713918 NA NA NA NA NA NA GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCTTATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGCCAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT GGATATGAGGATGTTTAAGGGAGCTTCTACTATACTAAGATTCAGTTTCTGTGTTCCAGATTAATCCAAAAGAGGGATGTAAAGTTCACGTGGTCTTCAGCACAGAGCGCTACAACCCAGAGGTAAGCTGCCACAATTGGCAAAGTATCCTATTAGCAACTGCTATAAAT control 364 327 0.00361576419848114 0 0.00180788209924057 1969 78 0 0 0 0.99412421290639 0.998876635660168 0.718962849578162 0.833485042170825 -0.990508448707908 -0.998876635660168 -0.718962849578162 -0.833485042170825 0.996500424283279 0.776223945874494 -0.994692542184038 -0.776223945874494 0.218468596309545 TRUE TRUE NA NA NA NA NA RARRES1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RARRES1 NA NA NA ENSG00000118849 ENSE00003697725 NA NA NA NA NA NA NA 8.40651968753382e-07 FALSE NA ENSE00000802182_000 ENSE00000802182 000 16 4947644 4947813 - 32 96 42 NA NA NA NA NA GTGCTGGGGGGACTCCCAGGAAAGGTAAGTACCTGGTGGTAGTCCTCCATGTACTTGAGGTGGCTCTCCTCGCAGATGAGCAGGTTCAGGTACTCCTTCCAGTCTGCGTGCACAGCCTCCATGTGCGCCTGCCAGGAAGAGAAGGGGCCGGTCACCACTGGGCAGGTACT 4897642 4897812 NA NA NA NA NA NA AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC natural 36 89 0.993082250310291 0.973473572207507 0.983277911258899 1841 2124 0.992655880063011 0.987217147006959 0.989936513534985 0.993082250310291 0.973473572207507 0.992655880063011 0.987217147006959 0 0 0 0 0.983277911258899 0.989936513534985 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPL NA NA NA ENSG00000118898 ENSE00000802182 NA NA NA NA NA NA NA 1.07536873356769e-25 FALSE NA ENSE00000802182_002 ENSE00000802182 002 16 4947644 4947813 - 32 96 42 G T 4947654 562 160 GTGCTGGGGGTACTCCCAGGAAAGGTAAGTACCTGGTGGTAGTCCTCCATGTACTTGAGGTGGCTCTCCTCGCAGATGAGCAGGTTCAGGTACTCCTTCCAGTCTGCGTGCACAGCCTCCATGTGCGCCTGCCAGGAAGAGAAGGGGCCGGTCACCACTGGGCAGGTACT 4897642 4897812 4897652 4897653 4897653 downstr_intron 22 1.70967741935484 AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTACCCCCAGCAC AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC mutant NA NA NA NA NA 242 183 1 0.999134794449014 0.999567397224507 0.993082250310291 0.973473572207507 0.992655880063011 0.987217147006959 NA NA 0.00734411993698936 0.0119176474420545 0.983277911258899 0.989936513534985 NA 0.00963088368952192 NA FALSE NA 0.005 -2.324 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4897653 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802182 intron_variant -1.034694 0.0691 0.00639 0.056701 0.370679728855567 0.0631726 1.07536873356769e-25 FALSE 8.15554e-06 ENSE00000802182_018 ENSE00000802182 018 16 4947644 4947813 - 32 96 42 G T 4947727 578 87 GTGCTGGGGGGACTCCCAGGAAAGGTAAGTACCTGGTGGTAGTCCTCCATGTACTTGAGGTGGCTCTCCTCGCAGATGAGCAGTTTCAGGTACTCCTTCCAGTCTGCGTGCACAGCCTCCATGTGCGCCTGCCAGGAAGAGAAGGGGCCGGTCACCACTGGGCAGGTACT 4897642 4897812 4897725 4897726 4897726 exon 45 0.46875 AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAAACTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC mutant NA NA NA NA NA 455 24 0.866046221179904 1 0.933023110589952 0.993082250310291 0.973473572207507 0.992655880063011 0.987217147006959 NA NA -0.126609658883107 0.0127828529930406 0.983277911258899 0.989936513534985 NA -0.0569134029450332 NA FALSE NA 1 5.502 NA NA NA PPL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4897726 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802182 missense_variant 5.054764 0.99472 0.97815 0.718356 0.9974214635528 0 1.07536873356769e-25 FALSE 4.06293e-06 ENSE00000802182_019 ENSE00000802182 019 16 4947644 4947813 - 32 96 42 G T 4947733 579 81 GTGCTGGGGGGACTCCCAGGAAAGGTAAGTACCTGGTGGTAGTCCTCCATGTACTTGAGGTGGCTCTCCTCGCAGATGAGCAGGTTCAGTTACTCCTTCCAGTCTGCGTGCACAGCCTCCATGTGCGCCTGCCAGGAAGAGAAGGGGCCGGTCACCACTGGGCAGGTACT 4897642 4897812 4897731 4897732 4897732 exon 39 0.40625 AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTAACTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC mutant 19 15 0.85 0.85 0.85 NA NA NA NA NA 0.993082250310291 0.973473572207507 0.992655880063011 0.987217147006959 -0.143082250310291 -0.123473572207507 NA NA 0.983277911258899 0.989936513534985 -0.133277911258899 NA NA NA FALSE 1 0.946 . upstream_gene_variant MODIFIER PPL HGNC 9273 ENST00000588556 1 NA GGT G,T 1.647e-05 16:4897732 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802182 stop_gained 11.269832 0.97534 0.89614 0.718356 0.997137327016669 0 1.07536873356769e-25 FALSE 8.12737e-06 ENSE00000802182_020 ENSE00000802182 020 16 4947644 4947813 - 32 96 42 A G 4947744 580 70 GTGCTGGGGGGACTCCCAGGAAAGGTAAGTACCTGGTGGTAGTCCTCCATGTACTTGAGGTGGCTCTCCTCGCAGATGAGCAGGTTCAGGTACTCCTTCCGGTCTGCGTGCACAGCCTCCATGTGCGCCTGCCAGGAAGAGAAGGGGCCGGTCACCACTGGGCAGGTACT 4897642 4897812 4897742 4897743 4897743 exon 28 0.291666666666667 AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACCGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC mutant NA NA NA NA NA 173 82 0.99414721680793 0.914083444060894 0.954115330434412 0.993082250310291 0.973473572207507 0.992655880063011 0.987217147006959 NA NA 0.00149133674491908 -0.0731337029460651 0.983277911258899 0.989936513534985 NA -0.035821183100573 NA FALSE NA 1 9.101 . upstream_gene_variant MODIFIER PPL HGNC 9273 ENST00000588556 1 NA CAG A,G 8.236e-06 16:4897743 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802182 missense_variant 5.899735 0.99265 0.98566 0.718356 0.988328387564827 0 1.07536873356769e-25 FALSE 4.06339e-06 ENSE00000802182_022 ENSE00000802182 022 16 4947644 4947813 - 32 96 42 C T 4947750 582 64 GTGCTGGGGGGACTCCCAGGAAAGGTAAGTACCTGGTGGTAGTCCTCCATGTACTTGAGGTGGCTCTCCTCGCAGATGAGCAGGTTCAGGTACTCCTTCCAGTCTGTGTGCACAGCCTCCATGTGCGCCTGCCAGGAAGAGAAGGGGCCGGTCACCACTGGGCAGGTACT 4897642 4897812 4897748 4897749 4897749 exon 22 0.229166666666667 AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACACAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC mutant NA NA NA NA NA 112 433 0.971443878997303 0.910086981672568 0.940765430334936 0.993082250310291 0.973473572207507 0.992655880063011 0.987217147006959 NA NA -0.0212120010657075 -0.0771301653343912 0.983277911258899 0.989936513534985 NA -0.0491710832000494 NA FALSE NA 0.998 4.656 . upstream_gene_variant MODIFIER PPL HGNC 9273 ENST00000588556 COSM435331 1 NA GCG C,T 8.236e-06 16:4897749 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802182 missense_variant 5.263582 0.98637 0.92267 0.718356 0.992408049511162 0 1.07536873356769e-25 FALSE 8.13054e-06 ENSE00000802182_033 ENSE00000802182 033 16 4947644 4947813 - 32 96 42 G A 4947793 593 21 GTGCTGGGGGGACTCCCAGGAAAGGTAAGTACCTGGTGGTAGTCCTCCATGTACTTGAGGTGGCTCTCCTCGCAGATGAGCAGGTTCAGGTACTCCTTCCAGTCTGCGTGCACAGCCTCCATGTGCGCCTGCCAGGAAGAGAAGGGGCCAGTCACCACTGGGCAGGTACT 4897642 4897812 4897791 4897792 4897792 upstr_intron -22 -0.5 AGTACCTGCCCAGTGGTGACTGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC AGTACCTGCCCAGTGGTGACCGGCCCCTTCTCTTCCTGGCAGGCGCACATGGAGGCTGTGCACGCAGACTGGAAGGAGTACCTGAACCTGCTCATCTGCGAGGAGAGCCACCTCAAGTACATGGAGGACTACCACCAGGTACTTACCTTTCCTGGGAGTCCCCCCAGCAC mutant NA NA NA NA NA 99 686 1 1 1 0.993082250310291 0.973473572207507 0.992655880063011 0.987217147006959 NA NA 0.00734411993698936 0.0127828529930406 0.983277911258899 0.989936513534985 NA 0.010063486465015 NA FALSE NA 0 -0.288 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4897792 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802182 intron_variant 0.191898 0.13469 0.00923 0.056701 0.440811399254322 0.0962967 1.07536873356769e-25 FALSE 6.57581e-05 ENSE00000802193_000 ENSE00000802193 000 16 4938941 4939110 - 38 84 48 NA NA NA NA NA CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 NA NA NA NA NA NA TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG natural NA NA NA NA NA 431 2542 0.978337732356346 0.972460944490275 0.97539933842331 NA NA 0.978337732356346 0.972460944490275 NA NA 0 0 NA 0.97539933842331 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPL NA NA NA ENSG00000118898 ENSE00000802193 NA NA NA NA NA NA NA 1.07536873356769e-25 FALSE NA ENSE00000802193_002 ENSE00000802193 002 16 4938941 4939110 - 38 84 48 T G 4938951 534 160 CTGCTGTTTGGGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4888949 4888950 4888950 downstr_intron 28 1.75675675675676 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCCCAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 481 116 1 0.993156673431156 0.996578336715578 NA NA 0.978337732356346 0.972460944490275 NA NA 0.0216622676436541 0.0206957289408813 NA 0.97539933842331 NA 0.0211789982922677 NA FALSE NA 0 -0.194 NA NA NA PPL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4888950 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 non_coding_transcript_exon_variant 0.087075 0.15169 0.0633 0.088506 0.487809727617382 0.0774557 1.07536873356769e-25 FALSE 4.06587e-06 ENSE00000802193_003 ENSE00000802193 003 16 4938941 4939110 - 38 84 48 G C 4938957 535 154 CTGCTGTTTGTGCTTTCGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4888955 4888956 4888956 downstr_intron 22 1.59459459459459 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCGAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 561 182 1 0.99701776878736 0.99850888439368 NA NA 0.978337732356346 0.972460944490275 NA NA 0.0216622676436541 0.0245568242970849 NA 0.97539933842331 NA 0.0231095459703695 NA FALSE NA 0 -2.545 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 rs374376605 1 NA C:0.0005 C:0 TGG G,C 1.647e-05 16:4888956 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 non_coding_transcript_exon_variant -0.256295 0.15763 0.01638 0.088506 0.414467764927699 0.0774557 1.07536873356769e-25 FALSE 8.13094e-06 ENSE00000802193_004 ENSE00000802193 004 16 4938941 4939110 - 38 84 48 C T 4938960 536 151 CTGCTGTTTGTGCTTTGGGTGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4888958 4888959 4888959 downstr_intron 19 1.51351351351351 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCACCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 206 658 0.984831735253125 0.999119647287674 0.991975691270399 NA NA 0.978337732356346 0.972460944490275 NA NA 0.00649400289677926 0.0266587027973991 NA 0.97539933842331 NA 0.0165763528470892 NA FALSE NA 0 -0.164 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 rs368563221 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0003 GCG C,T 0.0001153 16:4888959 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 non_coding_transcript_exon_variant 0.163692 0.2022 0.02023 0.069865 0.267900988205999 0.0774557 1.07536873356769e-25 FALSE 0.000166686 ENSE00000802193_005 ENSE00000802193 005 16 4938941 4939110 - 38 84 48 C T 4938971 537 140 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCTGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4888969 4888970 4888970 downstr_intron 8 1.21621621621622 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCAGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 262 615 0.975379606321109 0.929972198524962 0.952675902423036 NA NA 0.978337732356346 0.972460944490275 NA NA -0.00295812603523704 -0.0424887459653125 NA 0.97539933842331 NA -0.0227234360002748 NA FALSE NA 0 -0.676 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 rs374566715 1 NA T:0.0002 T:0.0001 CCG C,T 6.589e-05 16:4888970 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 splice_region_variant 0.182077 0.12472 0.03869 0.069865 0.593096520526099 0.106422 1.07536873356769e-25 FALSE 5.69124e-05 ENSE00000802193_007 ENSE00000802193 007 16 4938941 4939110 - 38 84 48 G A 4938973 539 138 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGACTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4888971 4888972 4888972 downstr_intron 6 1.16216216216216 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGTCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 49 791 0.993081237346512 0.99946900334587 0.996275120346191 NA NA 0.978337732356346 0.972460944490275 NA NA 0.0147435049901664 0.0270080588555952 NA 0.97539933842331 NA 0.0208757819228808 NA FALSE NA 0.043 0.006 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 rs551161390 1 A:0.0000 A:0 A:0 NA A:0 A:0 A:0 GGC G,A 3.295e-05 16:4888972 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 splice_region_variant 0.238437 0.31793 0.03441 0.069865 0.416479765698341 0.244247 1.07536873356769e-25 FALSE 4.06488e-05 ENSE00000802193_013 ENSE00000802193 013 16 4938941 4939110 - 38 84 48 C T 4938984 545 127 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTATAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4888982 4888983 4888983 exon -6 0.94047619047619 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTATAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 593 1060 0.999234103875347 0.977795170837321 0.988514637356334 NA NA 0.978337732356346 0.972460944490275 NA NA 0.0208963715190011 0.00533422634704683 NA 0.97539933842331 NA 0.013115298933024 NA FALSE NA 1 4.2 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 1 NA ACA C,T 1.647e-05 16:4888983 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant 3.404247 0.98608 0.95483 0.716115 0.996883516715721 0 1.07536873356769e-25 FALSE 8.12883e-06 ENSE00000802193_014 ENSE00000802193 014 16 4938941 4939110 - 38 84 48 G A 4939004 546 107 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGAAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4889002 4889003 4889003 exon -26 0.702380952380952 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTTCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 29 775 1 0.996691749487119 0.998345874743559 NA NA 0.978337732356346 0.972460944490275 NA NA 0.0216622676436541 0.024230804996844 NA 0.97539933842331 NA 0.0229465363202491 NA FALSE NA 1 8.884 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 COSM1378155 1 NA GGA G,A 8.236e-06 16:4889003 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant 5.520082 0.99353 0.99566 0.716115 0.998375535811507 0 1.07536873356769e-25 FALSE 4.06345e-06 ENSE00000802193_015 ENSE00000802193 015 16 4938941 4939110 - 38 84 48 T G 4939008 547 103 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATGGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4889006 4889007 4889007 exon -30 0.654761904761905 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCCATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 182 394 0.975796994131815 0.975597510159677 0.975697252145746 NA NA 0.978337732356346 0.972460944490275 NA NA -0.00254073822453049 0.00313656566940201 NA 0.97539933842331 NA 0.000297913722435761 NA FALSE NA 0 0.045 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 1 NA TTG T,G 8.236e-06 16:4889007 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant -1.250619 0.16949 0.06974 0.716115 0.134201726515035 0 1.07536873356769e-25 FALSE 4.06329e-06 ENSE00000802193_018 ENSE00000802193 018 16 4938941 4939110 - 38 84 48 C G 4939013 550 98 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCAGAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4889011 4889012 4889012 exon -35 0.595238095238095 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTCTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 394 140 0.982838181911487 1 0.991419090955743 NA NA 0.978337732356346 0.972460944490275 NA NA 0.00450044955514062 0.0275390555097254 NA 0.97539933842331 NA 0.016019752532433 NA FALSE NA 0.78 0.925 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 1 NA ACA C,G 1.647e-05 16:4889012 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant -2.397716 0.24022 0.17762 0.716115 0.340118806067476 0 1.07536873356769e-25 FALSE 2.03156e-05 ENSE00000802193_019 ENSE00000802193 019 16 4938941 4939110 - 38 84 48 A C 4939014 551 97 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACCGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4889012 4889013 4889013 exon -36 0.583333333333333 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCGGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 167 1308 1 0.985178284081609 0.992589142040805 NA NA 0.978337732356346 0.972460944490275 NA NA 0.0216622676436541 0.0127173395913347 NA 0.97539933842331 NA 0.0171898036174944 NA FALSE NA 1 5.44 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 1 NA CAG A,C 8.236e-06 16:4889013 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant 6.2e-05 0.95693 0.98245 0.67177 0.602494346048669 0 1.07536873356769e-25 FALSE NA ENSE00000802193_022 ENSE00000802193 022 16 4938941 4939110 - 38 84 48 A G 4939025 554 86 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTGCTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4889023 4889024 4889024 exon 38 0.452380952380952 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGCACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 174 26 0.8 0.8 0.8 NA NA 0.978337732356346 0.972460944490275 NA NA -0.178337732356346 -0.172460944490275 NA 0.97539933842331 NA -0.17539933842331 NA FALSE NA 1 6.627 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 1 NA TAC A,G 8.236e-06 16:4889024 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant 1.607417 0.9833 0.98942 0.67177 0.919780038130088 0 1.07536873356769e-25 FALSE 4.06296e-06 ENSE00000802193_023 ENSE00000802193 023 16 4938941 4939110 - 38 84 48 T G 4939027 555 84 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACGTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4889025 4889026 4889026 exon 36 0.428571428571429 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGACGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 403 193 0.963469295327253 1 0.981734647663626 NA NA 0.978337732356346 0.972460944490275 NA NA -0.0148684370290934 0.0275390555097254 NA 0.97539933842331 NA 0.006335309240316 NA FALSE NA 1 0.895 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 1 NA CTT T,G 1.647e-05 16:4889026 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant -0.423829 0.95818 0.80147 0.67177 0.0911783618657578 0 1.07536873356769e-25 FALSE 8.12599e-06 ENSE00000802193_024 ENSE00000802193 024 16 4938941 4939110 - 38 84 48 C G 4939033 556 78 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGGTCCCTACTTGCTATCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4889031 4889032 4889032 exon 30 0.357142857142857 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGACCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 61 641 1 0.999940607119989 0.999970303559995 NA NA 0.978337732356346 0.972460944490275 NA NA 0.0216622676436541 0.0274796626297146 NA 0.97539933842331 NA 0.0245709651366843 NA FALSE NA 0.072 -0.182 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 1 NA GCT C,G 8.236e-06 16:4889032 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant 2.752231 0.97279 0.49812 0.67177 0.99585681513134 0 1.07536873356769e-25 FALSE 4.06279e-06 ENSE00000802193_026 ENSE00000802193 026 16 4938941 4939110 - 38 84 48 A G 4939046 558 65 CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCACCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTGTCTCATCTAGCAGGTTCTGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 4889044 4889045 4889045 exon 17 0.202380952380952 TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGACAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG mutant NA NA NA NA NA 1056 68 0.912932685114667 1 0.956466342557334 NA NA 0.978337732356346 0.972460944490275 NA NA -0.0654050472416786 0.0275390555097254 NA 0.97539933842331 NA -0.0189329958659766 NA FALSE NA 1 6.565 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPL HGNC 9273 ENST00000589090 2/2 1 NA TAT A,G 8.236e-06 16:4889045 PPL HGNC Symbol protein_coding 78234 ENSG00000118898 ENSE00000802193 missense_variant 5.881318 0.99179 0.99291 0.67177 0.993285496092985 0 1.07536873356769e-25 FALSE 4.06296e-06 ENSE00000802193_BRK ENSE00000802193 BRK 16 4938941 4939110 - 38 84 48 A,G; T,T NA NA NA CTGCTGTTTGTGCTTTGGGCGGAAGTTTCCCGGCTCGGCTTTACAGCTTGCTGGTACTGCTGGGAATTGGCACAGATCTTCTGTACTTCCTGCTCCCTACTTGCTATCTCATCTAGCAGGTTAAGTAAGACAGAGTTTAAAAATCAAAACTAACCAGAAAAAAAATTTAA 4888939 4889109 NA NA NA NA NA NA TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACTTAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGCCGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG TTAAATTTTTTTTCTGGTTAGTTTTGATTTTTAAACTCTGTCTTACAGAACCTGCTAGATGAGATAGCAAGTAGGGAGCAGGAAGTACAGAAGATCTGTGCCAATTCCCAGCAGTACCAGCAAGCTGTAAAGGTGAGCCGGGAAACTTCCGCCCAAAGCACAAACAGCAG control NA NA NA NA NA 102 214 0.0415173631250322 0 0.0207586815625161 NA NA 0.978337732356346 0.972460944490275 NA NA -0.936820369231314 -0.972460944490275 NA 0.97539933842331 NA -0.954640656860794 NA TRUE NA NA NA NA NA NA PPL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPL NA NA NA ENSG00000118898 ENSE00000802193 NA NA NA NA NA NA NA 1.07536873356769e-25 FALSE NA ENSE00000803947_000 ENSE00000803947 000 9 82227512 82227681 + 59 63 48 NA NA NA NA NA GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 NA NA NA NA NA NA GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG natural 110 17 0.984433708478954 1 0.992216854239477 2999 2551 0.974596569492594 0.868244047330068 0.921420308411331 0.984433708478954 1 0.974596569492594 0.868244047330068 0 0 0 0 0.992216854239477 0.921420308411331 0 0 0 FALSE FALSE NA NA NA NA NA TLE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE4 NA NA NA ENSG00000106829 ENSE00003558842 NA NA NA NA NA NA NA 0.999921640049606 TRUE NA ENSE00000803947_003 ENSE00000803947 003 9 82227512 82227681 + 59 63 48 C T 82227538 626 27 GGAATCTGTAACCAGCTGACTGTTCTTTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612622 79612623 79612623 upstr_intron -33 -0.542372881355932 GGAATCTGTAACCAGCTGACTGTTCTTTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 761 393 0.998585424460595 1 0.999292712230298 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0239888549680014 0.131755952669932 0.992216854239477 0.921420308411331 NA 0.0778724038189668 NA FALSE NA 0.662 -0.191 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 4/20 1 NA TCT C,T 8.278e-06 9:79612623 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 2.153744 0.37588 0.18375 0.062308 0.558736387634488 0.357856 0.999921640049606 TRUE 4.07608e-06 ENSE00000803947_004 ENSE00000803947 004 9 82227512 82227681 + 59 63 48 T C 82227541 627 30 GGAATCTGTAACCAGCTGACTGTTCTCTTCATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612625 79612626 79612626 upstr_intron -30 -0.491525423728814 GGAATCTGTAACCAGCTGACTGTTCTCTTCATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 50 1579 1 0.988875701524454 0.994437850762227 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0254034305074061 0.120631654194386 0.992216854239477 0.921420308411331 NA 0.0730175423508962 NA FALSE NA 1 3.741 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 4/20 1 NA TTA T,C 8.278e-06 9:79612626 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 2.412972 0.9899 0.96386 0.062308 0.869981113450065 0.971222 0.999921640049606 TRUE NA ENSE00000803947_005 ENSE00000803947 005 9 82227512 82227681 + 59 63 48 T C 82227543 628 32 GGAATCTGTAACCAGCTGACTGTTCTCTTTACTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612627 79612628 79612628 upstr_intron -28 -0.457627118644068 GGAATCTGTAACCAGCTGACTGTTCTCTTTACTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 808 961 1 0.991047437318242 0.995523718659121 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0254034305074061 0.122803389988174 0.992216854239477 0.921420308411331 NA 0.0741034102477902 NA FALSE NA 1 1.872 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 4/20 1 NA ATT T,C 8.278e-06 9:79612628 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 2.047434 0.96401 0.81985 0.062308 0.830427102287969 0.84111 0.999921640049606 TRUE 4.07365e-06 ENSE00000803947_006 ENSE00000803947 006 9 82227512 82227681 + 59 63 48 C T 82227546 629 35 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGTTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612630 79612631 79612631 upstr_intron -25 -0.406779661016949 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGTTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 212 1191 0.997250202854993 0.999867187768003 0.998558695311498 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0226536333623992 0.131623140437935 0.992216854239477 0.921420308411331 NA 0.0771383869001672 NA FALSE NA 0.824 0.614 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 4/20 1 NA GCT C,T 8.277e-06 9:79612631 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 1.455575 0.7808 0.14901 0.062308 0.456956292989198 0.443215 0.999921640049606 TRUE 4.07368e-06 ENSE00000803947_007 ENSE00000803947 007 9 82227512 82227681 + 59 63 48 G A 82227567 630 56 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTACAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612651 79612652 79612652 upstr_intron -4 -0.0508474576271186 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTACAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 547 494 1 1 1 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0254034305074061 0.131755952669932 0.992216854239477 0.921420308411331 NA 0.0785796915886691 NA FALSE NA 0 -0.437 . splice_region_variant&intron_variant LOW TLE4 HGNC 11840 ENST00000376534 4/20 1 NA TGC G,A 1.655e-05 9:79612652 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 splice_region_variant 1.243209 0.95661 0.41053 0.099367 0.690532154997585 0.307459 0.999921640049606 TRUE 1.22145e-05 ENSE00000803947_008 ENSE00000803947 008 9 82227512 82227681 + 59 63 48 A G 82227573 631 62 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCGGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612657 79612658 79612658 exon 3 0.0476190476190476 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCGGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 17 497 1 0.995187986095576 0.997593993047788 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0254034305074061 0.126943938765508 0.992216854239477 0.921420308411331 NA 0.0761736846364569 NA FALSE NA 1 1.638 . splice_region_variant&5_prime_UTR_variant LOW TLE4 HGNC 11840 ENST00000376534 5/21 rs567307213 1 G:0.0004 G:0.0008 G:0 NA G:0.001 G:0 G:0 CAG A,G 1.655e-05 9:79612658 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 splice_region_variant 1.880827 0.97368 0.82582 0.706298 0.852371404947323 0 0.999921640049606 TRUE 8.13696e-06 ENSE00000803947_010 ENSE00000803947 010 9 82227512 82227681 + 59 63 48 T C 82227594 633 83 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAACGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612678 79612679 79612679 exon 24 0.380952380952381 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAACGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 32 809 1 0.99985875010249 0.999929375051245 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0254034305074061 0.131614702772422 0.992216854239477 0.921420308411331 NA 0.078509066639914 NA FALSE NA 1 1.222 . 5_prime_UTR_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/21 rs369702062 1 NA C:0 C:0.0001 ATG T,C 1.655e-05 9:79612679 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 synonymous_variant 0.149826 0.96774 0.78384 0.706298 0.661438004753224 0 0.999921640049606 TRUE 8.13292e-06 ENSE00000803947_011 ENSE00000803947 011 9 82227512 82227681 + 59 63 48 C G 82227596 634 85 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGGTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612680 79612681 79612681 exon 26 0.412698412698413 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGGTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 74 178 1 0.994698006220436 0.997349003110218 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0254034305074061 0.126453958890368 0.992216854239477 0.921420308411331 NA 0.0759286946988871 NA FALSE NA 1 6.833 . 5_prime_UTR_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/21 1 NA GCT C,G 8.276e-06 9:79612681 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 missense_variant 3.142072 0.99028 0.98198 0.706298 0.993762862844239 0 0.999921640049606 TRUE 4.06659e-06 ENSE00000803947_013 ENSE00000803947 013 9 82227512 82227681 + 59 63 48 C T 82227626 636 115 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTTCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612710 79612711 79612711 exon -8 0.888888888888889 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTTCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 1118 79 0.998294336393337 1 0.999147168196668 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0236977669007428 0.131755952669932 0.992216854239477 0.921420308411331 NA 0.0777268597853374 NA FALSE NA 1 6.833 . 5_prime_UTR_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/21 1 NA TCC C,T 8.276e-06 9:79612711 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 missense_variant 4.926481 0.98948 0.97573 0.706298 0.998026241415915 0 0.999921640049606 TRUE 4.06745e-06 ENSE00000803947_016 ENSE00000803947 016 9 82227512 82227681 + 59 63 48 A C 82227646 639 135 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGCTTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612730 79612731 79612731 downstr_intron 13 1.27659574468085 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGCTTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 635 413 0.999545455553368 0.999445193597513 0.999495324575441 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0249488860607746 0.131201146267445 0.992216854239477 0.921420308411331 NA 0.0780750161641098 NA FALSE NA 0.862 0.393 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/20 rs534814431 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GAT A,C 8.277e-06 9:79612731 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 1.674122 0.86387 0.50869 0.062308 0.737234460927321 0.451695 0.999921640049606 TRUE 4.06884e-06 ENSE00000803947_017 ENSE00000803947 017 9 82227512 82227681 + 59 63 48 C T 82227661 640 150 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGATTAGAAGTTGCCATTTTAGTG 79612596 79612766 79612745 79612746 79612746 downstr_intron 28 1.59574468085106 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGATTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 667 174 0.998259499622773 0.99908998855684 0.998674744089807 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0236629301301791 0.130845941226772 0.992216854239477 0.921420308411331 NA 0.0772544356784757 NA FALSE NA 0.001 0.01 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/20 1 NA ACT C,T 2.483e-05 9:79612746 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 0.484298 0.15669 0.08292 0.062308 0.397349019107503 0.222068 0.999921640049606 TRUE 1.22184e-05 ENSE00000803947_018 ENSE00000803947 018 9 82227512 82227681 + 59 63 48 A G 82227663 641 152 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTGGAAGTTGCCATTTTAGTG 79612596 79612766 79612747 79612748 79612748 downstr_intron 30 1.63829787234043 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTGGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 32 884 1 0.98151102441482 0.99075551220741 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0254034305074061 0.113266977084752 0.992216854239477 0.921420308411331 NA 0.069335203796079 NA FALSE NA 0 -1.02 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/20 1 NA TAG A,G 3.311e-05 9:79612748 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 0.604623 0.12854 0.08689 0.062308 0.591407922981633 0.222068 0.999921640049606 TRUE 3.25839e-05 ENSE00000803947_019 ENSE00000803947 019 9 82227512 82227681 + 59 63 48 G C 82227664 642 153 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTACAAGTTGCCATTTTAGTG 79612596 79612766 79612748 79612749 79612749 downstr_intron 31 1.65957446808511 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTACAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 881 315 0.999578830958322 0.999497597771116 0.999538214364719 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.024982261465728 0.131253550441048 0.992216854239477 0.921420308411331 NA 0.0781179059533879 NA FALSE NA 0.002 0.514 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/20 1 NA AGA G,C 1.655e-05 9:79612749 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 0.016773 0.21149 0.10236 0.062308 0.561920073476972 0.316605 0.999921640049606 TRUE 8.14651e-06 ENSE00000803947_020 ENSE00000803947 020 9 82227512 82227681 + 59 63 48 A C 82227666 643 155 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGACGTTGCCATTTTAGTG 79612596 79612766 79612750 79612751 79612751 downstr_intron 33 1.70212765957447 GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGACGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG mutant NA NA NA NA NA 1002 3422 0.986208457348039 0.998482307308215 0.992345382328127 0.984433708478954 1 0.974596569492594 0.868244047330068 NA NA 0.0116118878554455 0.130238259978147 0.992216854239477 0.921420308411331 NA 0.0709250739167961 NA FALSE NA 0.174 0.655 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/20 1 NA AAG A,C 8.276e-06 9:79612751 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003558842 intron_variant 0.330537 0.39501 0.28398 0.062308 0.674278851926272 0.238693 0.999921640049606 TRUE 1.22213e-05 ENSE00000803947_BRK ENSE00000803947 BRK 9 82227512 82227681 + 59 63 48 A,G; T,T NA NA NA GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCTTGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGCCAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG 79612596 79612766 NA NA NA NA NA NA GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCTTGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGCCAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG GGAATCTGTAACCAGCTGACTGTTCTCTTTATTGCTTTCCTTTCCCTTATTTTTTGCAGGCAGAGATTGTCAAGAGGCTGAATGCTATCTGTGCACAAGTCATTCCTTTCCTGTCCCAAGAGGTAAGGTAGTTGATTTTAGGCACTGGACTAGAAGTTGCCATTTTAGTG control 271 162 0.0616037770934708 0 0.0308018885467354 NA NA NA NA NA 0.984433708478954 1 0.974596569492594 0.868244047330068 -0.922829931385483 -1 NA NA 0.992216854239477 0.921420308411331 -0.961414965692741 NA NA NA TRUE NA NA NA NA NA TLE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE4 NA NA NA ENSG00000106829 ENSE00003558842 NA NA NA NA NA NA NA 0.999921640049606 TRUE NA ENSE00000804061_000 ENSE00000804061 000 9 86928242 86928411 - 32 96 42 NA NA NA NA NA TACTAGAGTCATGCACCACAGTCTTGCTGTACCTGTTTGGTGTTTGTGTGCTCCCTGCTTTGCACAGCTCTGCTTCTTATTGAGTTGTTTCCTGATGTGTTCTCGTTCTCAAGAAAGTTTTCTTCATTCTAAGAAAAAAGTGCAGATTGAAAAAATAAAAAGTTACAGCC 84313326 84313496 NA NA NA NA NA NA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA natural 42 29 0.995362871074827 0.988505947009149 0.991934409041988 1760 2168 0.980618212455267 0.942386329345965 0.961502270900616 0.995362871074827 0.988505947009149 0.980618212455267 0.942386329345965 0 0 0 0 0.991934409041988 0.961502270900616 0 0 0 FALSE FALSE NA NA NA NA NA SLC28A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A3 NA NA NA ENSG00000197506 ENSE00003597081 NA NA NA NA NA NA NA 1.9648660260768e-17 FALSE NA ENSE00000804061_004 ENSE00000804061 004 9 86928242 86928411 - 32 96 42 G A 86928291 738 121 TACTAGAGTCATGCACCACAGTCTTGCTGTACCTGTTTGGTGTTTGTGTACTCCCTGCTTTGCACAGCTCTGCTTCTTATTGAGTTGTTTCCTGATGTGTTCTCGTTCTCAAGAAAGTTTTCTTCATTCTAAGAAAAAAGTGCAGATTGAAAAAATAAAAAGTTACAGCC 84313326 84313496 84313375 84313376 84313376 exon -18 0.822916666666667 GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGTACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA mutant NA NA NA NA NA 52 941 0.992652311158247 0.956791286714805 0.974721798936526 0.995362871074827 0.988505947009149 0.980618212455267 0.942386329345965 NA NA 0.0120340987029797 0.0144049573688396 0.991934409041988 0.961502270900616 NA 0.0132195280359096 NA FALSE NA 0 0.672 . missense_variant MODERATE SLC28A3 HGNC 16484 ENST00000376238 2/18 1 tolerated(0.11) benign(0.127) NA TGC G,A 8.237e-06 9:84313376 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00003597081 missense_variant 1.453158 0.24288 0.0506 0.487112 0.855876083801435 0 1.9648660260768e-17 FALSE 8.12968e-06 ENSE00000804061_008 ENSE00000804061 008 9 86928242 86928411 - 32 96 42 T C 86928334 742 78 TACTAGAGTCATGCACCACAGTCTTGCTGTACCTGTTTGGTGTTTGTGTGCTCCCTGCTTTGCACAGCTCTGCTTCTTATTGAGTTGTTTCCCGATGTGTTCTCGTTCTCAAGAAAGTTTTCTTCATTCTAAGAAAAAAGTGCAGATTGAAAAAATAAAAAGTTACAGCC 84313326 84313496 84313418 84313419 84313419 exon 36 0.375 GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCGGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA mutant NA NA NA NA NA 255 47 0.986364551123182 1 0.993182275561591 0.995362871074827 0.988505947009149 0.980618212455267 0.942386329345965 NA NA 0.00574633866791485 0.0576136706540346 0.991934409041988 0.961502270900616 NA 0.0316800046609747 NA FALSE NA 0.993 1.227 rs11568421 synonymous_variant LOW SLC28A3 HGNC 16484 ENST00000376238 2/18 rs11568421 1 C:0.0022 C:0.0083 C:0 NA C:0 C:0 C:0 C:0.0093 C:0 CTG T,C 0.0008154 9:84313419 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00003597081 synonymous_variant -0.5317 0.95725 0.67991 0.487112 0.509444216252588 0 1.9648660260768e-17 FALSE 0.000630107 ENSE00000804061_009 ENSE00000804061 009 9 86928242 86928411 - 32 96 42 C T 86928345 743 67 TACTAGAGTCATGCACCACAGTCTTGCTGTACCTGTTTGGTGTTTGTGTGCTCCCTGCTTTGCACAGCTCTGCTTCTTATTGAGTTGTTTCCTGATGTGTTCTTGTTCTCAAGAAAGTTTTCTTCATTCTAAGAAAAAAGTGCAGATTGAAAAAATAAAAAGTTACAGCC 84313326 84313496 84313429 84313430 84313430 exon 25 0.260416666666667 GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACAAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA mutant NA NA NA NA NA 1432 753 0.977341767177627 0.981623569520867 0.979482668349247 0.995362871074827 0.988505947009149 0.980618212455267 0.942386329345965 NA NA -0.00327644527764048 0.0392372401749019 0.991934409041988 0.961502270900616 NA 0.0179803974486307 NA FALSE NA 0.868 0.709 . missense_variant MODERATE SLC28A3 HGNC 16484 ENST00000376238 2/18 rs267602295 1 tolerated(0.23) benign(0) NA TCG C,T 2.471e-05 9:84313430 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00003597081 missense_variant 1.488229 0.87811 0.22902 0.487112 0.985412930155691 0 1.9648660260768e-17 FALSE 4.88095e-05 ENSE00000804061_011 ENSE00000804061 011 9 86928242 86928411 - 32 96 42 G T 86928374 745 38 TACTAGAGTCATGCACCACAGTCTTGCTGTACCTGTTTGGTGTTTGTGTGCTCCCTGCTTTGCACAGCTCTGCTTCTTATTGAGTTGTTTCCTGATGTGTTCTCGTTCTCAAGAAAGTTTTCTTCATTCTAATAAAAAAGTGCAGATTGAAAAAATAAAAAGTTACAGCC 84313326 84313496 84313458 84313459 84313459 upstr_intron -5 -0.0952380952380952 GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTATTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA mutant NA NA NA NA NA 59 33 0.928472924139934 0.8 0.864236462069967 0.995362871074827 0.988505947009149 0.980618212455267 0.942386329345965 NA NA -0.0521452883153337 -0.142386329345965 0.991934409041988 0.961502270900616 NA -0.0972658088306496 NA FALSE NA 0.168 0.676 . splice_region_variant&intron_variant LOW SLC28A3 HGNC 16484 ENST00000376238 1/17 1 NA AGA G,T 1.647e-05 9:84313459 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00003597081 splice_region_variant -0.147675 0.17319 0.04263 0.06567 0.419849271885882 0.176198 1.9648660260768e-17 FALSE 8.21733e-06 ENSE00000804061_013 ENSE00000804061 013 9 86928242 86928411 - 32 96 42 A G 86928387 747 25 TACTAGAGTCATGCACCACAGTCTTGCTGTACCTGTTTGGTGTTTGTGTGCTCCCTGCTTTGCACAGCTCTGCTTCTTATTGAGTTGTTTCCTGATGTGTTCTCGTTCTCAAGAAAGTTTTCTTCATTCTAAGAAAAAAGTGCAGGTTGAAAAAATAAAAAGTTACAGCC 84313326 84313496 84313471 84313472 84313472 upstr_intron -18 -0.404761904761905 GGCTGTAACTTTTTATTTTTTCAACCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA mutant NA NA NA NA NA 883 172 0.979291677178597 0.845008900101644 0.91215028864012 0.995362871074827 0.988505947009149 0.980618212455267 0.942386329345965 NA NA -0.0013265352766707 -0.0973774292443215 0.991934409041988 0.961502270900616 NA -0.0493519822604961 NA FALSE NA 0.01 1.07 . intron_variant MODIFIER SLC28A3 HGNC 16484 ENST00000376238 1/17 rs372958687 1 NA G:0.0002 G:0 GAT A,G 8.239e-06 9:84313472 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00003597081 intron_variant -0.031412 0.18322 0.03909 0.06567 0.718608637017171 0.174109 1.9648660260768e-17 FALSE 4.13613e-06 ENSE00000804061_015 ENSE00000804061 015 9 86928242 86928411 - 32 96 42 A C 86928396 749 16 TACTAGAGTCATGCACCACAGTCTTGCTGTACCTGTTTGGTGTTTGTGTGCTCCCTGCTTTGCACAGCTCTGCTTCTTATTGAGTTGTTTCCTGATGTGTTCTCGTTCTCAAGAAAGTTTTCTTCATTCTAAGAAAAAAGTGCAGATTGAAAAACTAAAAAGTTACAGCC 84313326 84313496 84313480 84313481 84313481 upstr_intron -27 -0.619047619047619 GGCTGTAACTTTTTAGTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA mutant NA NA NA NA NA 920 440 0.942060012114634 0.907251626770389 0.924655819442511 0.995362871074827 0.988505947009149 0.980618212455267 0.942386329345965 NA NA -0.0385582003406335 -0.0351347025755769 0.991934409041988 0.961502270900616 NA -0.0368464514581052 NA FALSE NA 0.056 -0.189 . intron_variant MODIFIER SLC28A3 HGNC 16484 ENST00000376238 1/17 1 NA AAT A,C 8.242e-06 9:84313481 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00003597081 intron_variant 0.153739 0.84513 0.05808 0.06567 0.754468777915395 0.108801 1.9648660260768e-17 FALSE 8.34265e-06 ENSE00000804061_BRK ENSE00000804061 BRK 9 86928242 86928411 - 32 96 42 A,G; T,T NA NA NA TACTAGAGTCATGCACCACAGTCTTGCTGTGGCTGTTTGGTGTTTGTGTGCTCCCTGCTTTGCACAGCTCTGCTTCTTATTGAGTTGTTTCCTGATGTGTTCTCGTTCTCAAGAAAGTTTTCTTCATTAAAAGAAAAAAGTGCAGATTGAAAAAATAAAAAGTTACAGCC 84313326 84313496 NA NA NA NA NA NA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTTTAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGCCACAGCAAGACTGTGGTGCATGACTCTAGTA GGCTGTAACTTTTTATTTTTTCAATCTGCACTTTTTTCTTAGAATGAAGAAAACTTTCTTGAGAACGAGAACACATCAGGAAACAACTCAATAAGAAGCAGAGCTGTGCAAAGCAGGGAGCACACAAACACCAAACAGGTACAGCAAGACTGTGGTGCATGACTCTAGTA control 13 39 0 0 0 NA NA NA NA NA 0.995362871074827 0.988505947009149 0.980618212455267 0.942386329345965 -0.995362871074827 -0.988505947009149 NA NA 0.991934409041988 0.961502270900616 -0.991934409041988 NA NA NA TRUE NA NA NA NA NA SLC28A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A3 NA NA NA ENSG00000197506 ENSE00003597081 NA NA NA NA NA NA NA 1.9648660260768e-17 FALSE NA ENSE00000804941_000 ENSE00000804941 000 9 99301312 99301481 - 48 63 59 NA NA NA NA NA ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTCTTAAAAGCTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC 96539029 96539199 NA NA NA NA NA NA ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTCTTAAAAGCTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTCTTAAAAGCTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC natural NA NA NA NA NA 235 954 0.994441536866593 0.994381597914008 0.9944115673903 NA NA 0.994441536866593 0.994381597914008 NA NA 0 0 NA 0.9944115673903 NA 0 NA FALSE NA NA NA NA NA NA CDC14B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC14B NA NA NA ENSG00000081377 ENSE00003527078 NA NA NA NA NA NA NA 0.576306678785861 FALSE NA ENSE00000804941_014 ENSE00000804941 014 9 99301312 99301481 - 48 63 59 G A 99301440 1024 42 ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTCTTAAAAGTTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC 96539029 96539199 96539157 96539158 96539158 upstr_intron -18 -0.288135593220339 ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTCTTAAAAGTTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTCTTAAAAGCTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC mutant NA NA NA NA NA 47 106 1 1 1 NA NA 0.994441536866593 0.994381597914008 NA NA 0.00555846313340724 0.00561840208599196 NA 0.9944115673903 NA 0.0055884326096996 NA FALSE NA 0.161 -0.205 . intron_variant&NMD_transcript_variant MODIFIER CDC14B HGNC 1719 ENST00000412285 6/14 1 NA AGC G,A 8.237e-06 9:96539158 CDC14B HGNC Symbol protein_coding 129589 ENSG00000081377 ENSE00003527078 intron_variant 2.159963 0.79628 0.07488 0.053691 0.719081143190002 0.342877 0.576306678785861 FALSE 4.14659e-06 ENSE00000804941_015 ENSE00000804941 015 9 99301312 99301481 - 48 63 59 G A 99301448 1025 34 ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTTTTAAAAGCTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC 96539029 96539199 96539165 96539166 96539166 upstr_intron -26 -0.423728813559322 ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTTTTAAAAGCTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC ATAGGAAACTGTTTTCTTATTTGCATCCTTGTTCTTAAAAGCTTTCTTTTGGATTTTAGGCAATGCAGTATGGCTTCCTTAATTTCAACTCATTTAACCTTGATGAATATGAACACTATGAAGTAAGTCTTCAAGGATCATGTTTTCAACTCTTCCTCCCCCCGCCCAGC mutant NA NA NA NA NA 67 70 0.95 0.95 0.95 NA NA 0.994441536866593 0.994381597914008 NA NA -0.0444415368665928 -0.0443815979140081 NA 0.9944115673903 NA -0.0444115673903004 NA FALSE NA 0.794 0.167 . intron_variant&NMD_transcript_variant MODIFIER CDC14B HGNC 1719 ENST00000412285 6/14 rs370777466 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0008 AGA G,A 0.0004036 9:96539166 CDC14B HGNC Symbol protein_coding 129589 ENSG00000081377 ENSE00003527078 intron_variant 1.585986 0.27939 0.5859 0.053691 0.622937870228694 0.291889 0.576306678785861 FALSE 0.00042921 ENSE00000806005_000 ENSE00000806005 000 9 111746592 111746761 - 35 90 45 NA NA NA NA NA TAATTTATTACACAGTAAAACCAAAATTGTCTTACCTTTGAAGCTGTGAGAAGCATCATTGTACACTTTTCAAGAACTGCCCTAGCTGCTGCCATTTTTGCCTTTTTCTTTTCATCTTTCAAATCCTAAATATGAAATAAAATCACGGAGGAGTCTAAGACCATGTGAAC 108984311 108984481 NA NA NA NA NA NA GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA natural 40 96 0.85 0.85 0.85 2428 3993 0.917786246809906 0.793755042973348 0.855770644891627 0.85 0.85 0.917786246809906 0.793755042973348 0 0 0 0 0.85 0.855770644891627 0 0 0 FALSE FALSE NA NA NA NA NA CTNNAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNNAL1 NA NA NA ENSG00000119326 ENSE00000806005 NA NA NA NA NA NA NA 2.30659700336349e-06 FALSE NA ENSE00000806005_008 ENSE00000806005 008 9 111746592 111746761 - 35 90 45 G T 111746644 1392 118 TAATTTATTACACAGTAAAACCAAAATTGTCTTACCTTTGAAGCTGTGAGAATCATCATTGTACACTTTTCAAGAACTGCCCTAGCTGCTGCCATTTTTGCCTTTTTCTTTTCATCTTTCAAATCCTAAATATGAAATAAAATCACGGAGGAGTCTAAGACCATGTGAAC 108984311 108984481 108984363 108984364 108984364 exon -18 0.811111111111111 GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGATTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA mutant NA NA NA NA NA 370 588 0.816423800757497 0.8 0.808211900378749 0.85 0.85 0.917786246809906 0.793755042973348 NA NA -0.101362446052409 0.00624495702665162 0.85 0.855770644891627 NA -0.0475587445128785 NA FALSE NA 1 7.984 . missense_variant MODERATE CTNNAL1 HGNC 2512 ENST00000325580 5/17 1 unknown(0) NA AGC G,T 8.237e-06 9:108984364 CTNNAL1 HGNC Symbol protein_coding 70960 ENSG00000119326 ENSE00000806005 missense_variant 6.512193 0.99093 0.98551 0.732398 0.986115322848351 0 2.30659700336349e-06 FALSE 4.08787e-06 ENSE00000806005_009 ENSE00000806005 009 9 111746592 111746761 - 35 90 45 T C 111746650 1393 112 TAATTTATTACACAGTAAAACCAAAATTGTCTTACCTTTGAAGCTGTGAGAAGCATCACTGTACACTTTTCAAGAACTGCCCTAGCTGCTGCCATTTTTGCCTTTTTCTTTTCATCTTTCAAATCCTAAATATGAAATAAAATCACGGAGGAGTCTAAGACCATGTGAAC 108984311 108984481 108984369 108984370 108984370 exon -24 0.744444444444444 GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAGTGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA mutant NA NA NA NA NA 144 22 0.9677888907011 1 0.98389444535055 0.85 0.85 0.917786246809906 0.793755042973348 NA NA 0.0500026438911942 0.206244957026652 0.85 0.855770644891627 NA 0.128123800458923 NA FALSE NA 1 7.977 . missense_variant MODERATE CTNNAL1 HGNC 2512 ENST00000325580 5/17 1 unknown(0) NA ATT T,C 8.237e-06 9:108984370 CTNNAL1 HGNC Symbol protein_coding 70960 ENSG00000119326 ENSE00000806005 missense_variant 5.096217 0.99234 0.98269 0.732398 0.966427358700143 0 2.30659700336349e-06 FALSE 8.14213e-06 ENSE00000806005_016 ENSE00000806005 016 9 111746592 111746761 - 35 90 45 C T 111746737 1400 25 TAATTTATTACACAGTAAAACCAAAATTGTCTTACCTTTGAAGCTGTGAGAAGCATCATTGTACACTTTTCAAGAACTGCCCTAGCTGCTGCCATTTTTGCCTTTTTCTTTTCATCTTTCAAATCCTAAATATGAAATAAAATCATGGAGGAGTCTAAGACCATGTGAAC 108984311 108984481 108984456 108984457 108984457 upstr_intron -21 -0.444444444444444 GTTCACATGGTCTTAGACTCCTCCATGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA mutant NA NA NA NA NA 80 1047 0.928835466736784 0.973162095416473 0.950998781076629 0.85 0.85 0.917786246809906 0.793755042973348 NA NA 0.0110492199268787 0.179407052443125 0.85 0.855770644891627 NA 0.0952281361850016 NA FALSE NA 0 -0.199 . intron_variant MODIFIER CTNNAL1 HGNC 2512 ENST00000325580 4/16 rs372505358 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 ACG C,T 9.06e-05 9:108984457 CTNNAL1 HGNC Symbol protein_coding 70960 ENSG00000119326 ENSE00000806005 intron_variant -0.139866 0.19553 0.07733 0.088506 0.642316142707165 0.153901 2.30659700336349e-06 FALSE 7.77866e-05 ENSE00000806005_017 ENSE00000806005 017 9 111746592 111746761 - 35 90 45 G A 111746738 1401 24 TAATTTATTACACAGTAAAACCAAAATTGTCTTACCTTTGAAGCTGTGAGAAGCATCATTGTACACTTTTCAAGAACTGCCCTAGCTGCTGCCATTTTTGCCTTTTTCTTTTCATCTTTCAAATCCTAAATATGAAATAAAATCACAGAGGAGTCTAAGACCATGTGAAC 108984311 108984481 108984457 108984458 108984458 upstr_intron -22 -0.466666666666667 GTTCACATGGTCTTAGACTCCTCTGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA mutant NA NA NA NA NA 36 1467 0.99651924014787 0.996739087419436 0.996629163783653 0.85 0.85 0.917786246809906 0.793755042973348 NA NA 0.0787329933379644 0.202984044446087 0.85 0.855770644891627 NA 0.140858518892026 NA FALSE NA 0 -0.266 . intron_variant MODIFIER CTNNAL1 HGNC 2512 ENST00000325580 4/16 1 NA CGG G,A 2.471e-05 9:108984458 CTNNAL1 HGNC Symbol protein_coding 70960 ENSG00000119326 ENSE00000806005 intron_variant -0.084907 0.25209 0.02242 0.088506 0.603541593676361 0.153901 2.30659700336349e-06 FALSE 1.638e-05 ENSE00000806005_018 ENSE00000806005 018 9 111746592 111746761 - 35 90 45 G T 111746741 1402 21 TAATTTATTACACAGTAAAACCAAAATTGTCTTACCTTTGAAGCTGTGAGAAGCATCATTGTACACTTTTCAAGAACTGCCCTAGCTGCTGCCATTTTTGCCTTTTTCTTTTCATCTTTCAAATCCTAAATATGAAATAAAATCACGGATGAGTCTAAGACCATGTGAAC 108984311 108984481 108984460 108984461 108984461 upstr_intron -25 -0.533333333333333 GTTCACATGGTCTTAGACTCATCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA GTTCACATGGTCTTAGACTCCTCCGTGATTTTATTTCATATTTAGGATTTGAAAGATGAAAAGAAAAAGGCAAAAATGGCAGCAGCTAGGGCAGTTCTTGAAAAGTGTACAATGATGCTTCTCACAGCTTCAAAGGTAAGACAATTTTGGTTTTACTGTGTAATAAATTA mutant NA NA NA NA NA 294 61 0.984629592725521 0.938532917902825 0.961581255314173 0.85 0.85 0.917786246809906 0.793755042973348 NA NA 0.0668433459156151 0.144777874929476 0.85 0.855770644891627 NA 0.105810610422546 NA FALSE NA 0.002 0.283 . intron_variant MODIFIER CTNNAL1 HGNC 2512 ENST00000325580 4/16 rs374804658 1 NA T:0 T:0.0001 AGG G,T 8.237e-06 9:108984461 CTNNAL1 HGNC Symbol protein_coding 70960 ENSG00000119326 ENSE00000806005 intron_variant 0.001646 0.15753 0.05647 0.088506 0.463111805203758 0.153901 2.30659700336349e-06 FALSE NA ENSE00000806215_000 ENSE00000806215 000 9 115961090 115961259 - 45 69 56 NA NA NA NA NA ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 NA NA NA NA NA NA ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG natural 12 26 0.85 0.85 0.85 666 621 0.971568550969289 0.967401992540712 0.969485271755001 0.85 0.85 0.971568550969289 0.967401992540712 0 0 0 0 0.85 0.969485271755001 0 0 0 FALSE FALSE NA NA NA NA NA FKBP15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FKBP15 NA NA NA ENSG00000119321 ENSE00000806215 NA NA NA NA NA NA NA 1.84755802385896e-07 FALSE NA ENSE00000806215_001 ENSE00000806215 001 9 115961090 115961259 - 45 69 56 T G 115961123 1477 137 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTACCTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198842 113198843 113198843 downstr_intron 12 1.27272727272727 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTACCTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 266 1141 0.952306950901933 0.955337045783263 0.953821998342598 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.0192616000673563 -0.0120649467574485 0.85 0.969485271755001 NA -0.0156632734124024 NA FALSE NA 0 -0.072 . intron_variant MODIFIER FKBP15 HGNC 23397 ENST00000238256 8/27 1 NA GTT T,G 8.288e-06 9:113198843 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 intron_variant 0.775572 0.21226 0.17742 0.295142 0.545993806694514 0.153901 1.84755802385896e-07 FALSE 4.55892e-06 ENSE00000806215_002 ENSE00000806215 002 9 115961090 115961259 - 45 69 56 T G 115961124 1478 136 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTCACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198843 113198844 113198844 downstr_intron 11 1.25 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTCACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 791 14 0.972459668841011 0.8 0.886229834420506 0.85 0.85 0.971568550969289 0.967401992540712 NA NA 0.000891117871721581 -0.167401992540712 0.85 0.969485271755001 NA -0.0832554373344951 NA FALSE NA 0 -1.14 . intron_variant MODIFIER FKBP15 HGNC 23397 ENST00000238256 8/27 rs371408857 1 NA G:0 G:0.0001 TTA T,G 8.288e-06 9:113198844 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 intron_variant 0.30979 0.20527 0.07322 0.295142 0.600028906494479 0.168359 1.84755802385896e-07 FALSE 9.074e-06 ENSE00000806215_003 ENSE00000806215 003 9 115961090 115961259 - 45 69 56 C G 115961128 1479 132 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGCCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198847 113198848 113198848 downstr_intron 7 1.15909090909091 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGCCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 643 3325 0.984883704781286 0.982167437354391 0.983525571067839 0.85 0.85 0.971568550969289 0.967401992540712 NA NA 0.013315153811997 0.014765444813679 0.85 0.969485271755001 NA 0.014040299312838 NA FALSE NA 0.368 0.366 . splice_region_variant&intron_variant LOW FKBP15 HGNC 23397 ENST00000238256 8/27 1 NA GCC C,G 8.285e-06 9:113198848 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 splice_region_variant 0.508977 0.20285 0.01857 0.295142 0.559977198610341 0.4223 1.84755802385896e-07 FALSE 4.48668e-06 ENSE00000806215_004 ENSE00000806215 004 9 115961090 115961259 - 45 69 56 T C 115961131 1480 129 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAGAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198850 113198851 113198851 downstr_intron 4 1.09090909090909 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAGAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 197 142 0 0 0 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.971568550969289 -0.967401992540712 0.85 0.969485271755001 NA -0.969485271755001 NA TRUE NA 0.996 1.465 rs141288448 splice_region_variant&intron_variant LOW FKBP15 HGNC 23397 ENST00000238256 8/27 rs141288448 1 C:0.0010 C:0 C:0 NA C:0 C:0.005 C:0 C:0.0006 C:0.0023 TTT T,C 0.001268 9:113198851 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 splice_region_variant 1.689658 0.97867 0.77008 0.295142 0.948269150060317 0.519848 1.84755802385896e-07 FALSE 0.0013314 ENSE00000806215_006 ENSE00000806215 006 9 115961090 115961259 - 45 69 56 C G 115961143 1482 117 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAACTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198862 113198863 113198863 exon -9 0.884057971014493 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAACTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 266 222 0.998599210949934 0.992459322212456 0.995529266581195 0.85 0.85 0.971568550969289 0.967401992540712 NA NA 0.0270306599806444 0.0250573296717445 0.85 0.969485271755001 NA 0.0260439948261944 NA FALSE NA 1 3.968 . missense_variant MODERATE FKBP15 HGNC 23397 ENST00000238256 8/28 rs372832505 1 deleterious(0.01) possibly_damaging(0.702) NA G:0.0005 G:0 ACT C,G 8.283e-06 9:113198863 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 missense_variant 6.69622 0.99299 0.96881 0.732398 0.998481825283038 0 1.84755802385896e-07 FALSE 8.71855e-06 ENSE00000806215_007 ENSE00000806215 007 9 115961090 115961259 - 45 69 56 G T 115961151 1483 109 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATAAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198870 113198871 113198871 exon -17 0.768115942028985 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATAAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 253 56 0.0288963848491968 0.00659784253214824 0.0177471136906725 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.942672166120092 -0.960804150008564 0.85 0.969485271755001 NA -0.951738158064328 NA TRUE NA 1 8.175 . stop_gained HIGH FKBP15 HGNC 23397 ENST00000238256 8/28 1 NA HC TGA G,T 8.283e-06 9:113198871 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 stop_gained 14.323648 0.99301 0.98888 0.732398 0.994849687725765 0 1.84755802385896e-07 FALSE NA ENSE00000806215_009 ENSE00000806215 009 9 115961090 115961259 - 45 69 56 T A 115961153 1485 107 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGTTCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198872 113198873 113198873 exon -19 0.739130434782609 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGTTCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 94 179 0 0 0 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.971568550969289 -0.967401992540712 0.85 0.969485271755001 NA -0.969485271755001 NA TRUE NA 0.997 0.501 NA NA NA FKBP15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:113198873 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 synonymous_variant 1.303329 0.96957 0.80258 0.732398 0.690498741110609 0 1.84755802385896e-07 FALSE 3.45176e-05 ENSE00000806215_010 ENSE00000806215 010 9 115961090 115961259 - 45 69 56 C T 115961162 1486 98 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTAAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198881 113198882 113198882 exon -28 0.608695652173913 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTAAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 1119 360 0.00068425401346881 0.00101679136671968 0.000850522690094246 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.97088429695582 -0.966385201173992 0.85 0.969485271755001 NA -0.968634749064906 NA TRUE NA 0.083 -0.324 . synonymous_variant LOW FKBP15 HGNC 23397 ENST00000238256 8/28 1 NA TCA C,T 8.283e-06 9:113198882 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 synonymous_variant 1.294693 0.95577 0.19885 0.732398 0.712257072145542 0 1.84755802385896e-07 FALSE NA ENSE00000806215_011 ENSE00000806215 011 9 115961090 115961259 - 45 69 56 G A 115961165 1487 95 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGTTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198884 113198885 113198885 exon -31 0.565217391304348 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGTTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 21 54 0.8 0.884706846052318 0.842353423026159 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.171568550969289 -0.0826951464883944 0.85 0.969485271755001 NA -0.127131848728842 NA FALSE NA 0.061 -0.606 . synonymous_variant LOW FKBP15 HGNC 23397 ENST00000238256 8/28 1 NA AGC G,A 8.283e-06 9:113198885 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 synonymous_variant 1.413437 0.95969 0.12419 0.732398 0.554770793674483 0 1.84755802385896e-07 FALSE NA ENSE00000806215_014 ENSE00000806215 014 9 115961090 115961259 - 45 69 56 G A 115961170 1490 90 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGTTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198889 113198890 113198890 exon 34 0.492753623188406 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGTTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 70 359 0 0.0123590671562349 0.00617953357811745 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.971568550969289 -0.955042925384477 0.85 0.969485271755001 NA -0.963305738176883 NA TRUE NA 1 2.262 . missense_variant MODERATE FKBP15 HGNC 23397 ENST00000238256 8/28 rs374097177 1 tolerated(0.11) benign(0.424) NA A:0 A:0.0001 AGC G,A 1.656e-05 9:113198890 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 missense_variant 3.330637 0.9879 0.90162 0.732398 0.998688284663962 0 1.84755802385896e-07 FALSE NA ENSE00000806215_015 ENSE00000806215 015 9 115961090 115961259 - 45 69 56 G T 115961183 1491 77 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAAAAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198902 113198903 113198903 exon 21 0.304347826086957 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAAAAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 30 128 0.805357914155728 0.966977250640383 0.886167582398055 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.166210636813561 -0.00042474190032904 0.85 0.969485271755001 NA -0.0833176893569452 NA FALSE NA 1 2.967 NA NA NA FKBP15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:113198903 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 missense_variant 4.868302 0.97928 0.87323 0.732398 0.997635098576093 0 1.84755802385896e-07 FALSE NA ENSE00000806215_017 ENSE00000806215 017 9 115961090 115961259 - 45 69 56 C T 115961197 1493 63 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCAACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198916 113198917 113198917 exon 7 0.101449275362319 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCAACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 114 104 0.855103367936977 0.8 0.827551683968488 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.116465183032313 -0.167401992540712 0.85 0.969485271755001 NA -0.141933587786512 NA FALSE NA 1 4.909 . missense_variant MODERATE FKBP15 HGNC 23397 ENST00000238256 8/28 rs369177721 1 deleterious(0.01) possibly_damaging(0.655) NA T:0.0003 T:0 TCG C,T 8.289e-06 9:113198917 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 missense_variant 7.025022 0.99261 0.96313 0.732398 0.999230731744738 0 1.84755802385896e-07 FALSE NA ENSE00000806215_019 ENSE00000806215 019 9 115961090 115961259 - 45 69 56 T G 115961215 1495 45 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGCTCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198934 113198935 113198935 upstr_intron -12 -0.196428571428571 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGCTCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 41 71 1 1 1 0.85 0.85 0.971568550969289 0.967401992540712 NA NA 0.0284314490307107 0.0325980074592881 0.85 0.969485271755001 NA 0.0305147282449994 NA FALSE NA 0.051 0.144 . intron_variant MODIFIER FKBP15 HGNC 23397 ENST00000238256 7/27 1 NA ATC T,G 1.662e-05 9:113198935 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 intron_variant 0.087892 0.23858 0.11198 0.088506 0.462703201568635 0.235724 1.84755802385896e-07 FALSE 2.46281e-05 ENSE00000806215_020 ENSE00000806215 020 9 115961090 115961259 - 45 69 56 C T 115961216 1496 44 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCAATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198935 113198936 113198936 upstr_intron -13 -0.214285714285714 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCAATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 653 849 0.978596598601175 0.98423670984017 0.981416654220672 0.85 0.85 0.971568550969289 0.967401992540712 NA NA 0.0070280476318858 0.016834717299458 0.85 0.969485271755001 NA 0.0119313824656719 NA FALSE NA 0.003 -1.088 NA NA NA FKBP15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:113198936 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 intron_variant -0.655407 0.20736 0.00612 0.106106 0.697256218206137 0.234947 1.84755802385896e-07 FALSE NA ENSE00000806215_022 ENSE00000806215 022 9 115961090 115961259 - 45 69 56 G A 115961217 1498 43 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTTGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 113198936 113198937 113198937 upstr_intron -14 -0.232142857142857 ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTTGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG mutant NA NA NA NA NA 11 93 1 1 1 0.85 0.85 0.971568550969289 0.967401992540712 NA NA 0.0284314490307107 0.0325980074592881 0.85 0.969485271755001 NA 0.0305147282449994 NA FALSE NA 0.275 0.657 rs190235494 intron_variant MODIFIER FKBP15 HGNC 23397 ENST00000238256 7/27 rs190235494 1 A:0.0008 A:0 A:0.0058 NA A:0 A:0 A:0 A:0.0005 A:0.0016 CGA G,A 0.0007315 9:113198937 FKBP15 HGNC Symbol protein_coding 60355 ENSG00000119321 ENSE00000806215 intron_variant -0.153208 0.19587 0.03278 0.106106 0.544306574673665 0.214737 1.84755802385896e-07 FALSE 0.00103914 ENSE00000806215_BRK ENSE00000806215 BRK 9 115961090 115961259 - 45 69 56 A,G; T,T NA NA NA ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCTTGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGCCAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG 113198809 113198979 NA NA NA NA NA NA ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCTTGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGCCAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG ATGGTTATTATTATTTTTGAAATTGGCTGGCCTAATTTCCTTCGATCAAATTGCAGGTTTTCGACTCCACTGCTAACAAAGATAAGTTGCTTCGCTTGAAGTTAGGATCAGGAAAAGTCATCAAGGTAAAGGCTTAACTGTGTTTTTTTATGGTTTTATCAGTTGCAGTG control NA NA NA NA NA 299 110 0 0 0 0.85 0.85 0.971568550969289 0.967401992540712 NA NA -0.971568550969289 -0.967401992540712 0.85 0.969485271755001 NA -0.969485271755001 NA TRUE NA NA NA NA NA NA FKBP15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FKBP15 NA NA NA ENSG00000119321 ENSE00000806215 NA NA NA NA NA NA NA 1.84755802385896e-07 FALSE NA ENSE00000806630_000 ENSE00000806630 000 9 127933332 127933501 - 32 96 42 NA NA NA NA NA ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG 125171052 125171222 NA NA NA NA NA NA ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG natural NA NA NA NA NA 556 1930 0.984193779270797 0.82369909570401 0.903946437487403 NA NA 0.984193779270797 0.82369909570401 NA NA 0 0 NA 0.903946437487403 NA 0 NA FALSE NA NA NA NA NA NA PPP6C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP6C NA NA NA ENSG00000119414 ENSE00003641745 NA NA NA NA NA NA NA 0.988609353693385 TRUE NA ENSE00000806630_001 ENSE00000806630 001 9 127933332 127933501 - 32 96 42 A G 127933382 2516 120 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGCGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG 125171052 125171222 125171102 125171103 125171103 exon -19 0.8125 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGCGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG mutant NA NA NA NA NA 2048 1166 0.998584836457069 0.994849994344614 0.996717415400841 NA NA 0.984193779270797 0.82369909570401 NA NA 0.0143910571862724 0.171150898640604 NA 0.903946437487403 NA 0.0927709779134381 NA FALSE NA 1 2.428 . synonymous_variant LOW PPP6C HGNC 9323 ENST00000373547 2/7 1 NA CAC A,G 2.471e-05 9:125171103 PPP6C HGNC Symbol protein_coding 43366 ENSG00000119414 ENSE00003641745 synonymous_variant 0.326602 0.97606 0.88056 0.719381 0.672721803777697 0 0.988609353693385 TRUE 1.25722e-05 ENSE00000806630_002 ENSE00000806630 002 9 127933332 127933501 - 32 96 42 T C 127933388 2517 114 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACGGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG 125171052 125171222 125171108 125171109 125171109 exon -25 0.75 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACGGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG mutant NA NA NA NA NA 384 14 1 0.834815623886076 0.917407811943038 NA NA 0.984193779270797 0.82369909570401 NA NA 0.0158062207292033 0.0111165281820665 NA 0.903946437487403 NA 0.0134613744556349 NA FALSE NA 1 1.02 . synonymous_variant LOW PPP6C HGNC 9323 ENST00000373547 2/7 1 NA CTG T,C 8.236e-06 9:125171109 PPP6C HGNC Symbol protein_coding 43366 ENSG00000119414 ENSE00003641745 synonymous_variant 0.686906 0.97767 0.83459 0.719381 0.736883760503193 0 0.988609353693385 TRUE 4.14983e-06 ENSE00000806630_003 ENSE00000806630 003 9 127933332 127933501 - 32 96 42 C T 127933444 2518 58 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACATTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG 125171052 125171222 125171164 125171165 125171165 exon 16 0.166666666666667 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACATTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG mutant NA NA NA NA NA 428 78 0.995234572500826 0.989049765678491 0.992142169089659 NA NA 0.984193779270797 0.82369909570401 NA NA 0.0110407932300296 0.165350669974481 NA 0.903946437487403 NA 0.0881957316022555 NA FALSE NA 1 6.882 . missense_variant MODERATE PPP6C HGNC 9323 ENST00000373547 2/7 1 tolerated(0.09) benign(0.063) NA ACG C,T 1.647e-05 9:125171165 PPP6C HGNC Symbol protein_coding 43366 ENSG00000119414 ENSE00003641745 missense_variant 5.863731 0.99379 0.97092 0.744818 0.997201661478208 0 0.988609353693385 TRUE NA ENSE00000806630_005 ENSE00000806630 005 9 127933332 127933501 - 32 96 42 C T 127933457 2520 45 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGACTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG 125171052 125171222 125171177 125171178 125171178 exon 3 0.03125 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGACTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG mutant NA NA NA NA NA 59 320 1 0.994589507367219 0.997294753683609 NA NA 0.984193779270797 0.82369909570401 NA NA 0.0158062207292033 0.170890411663209 NA 0.903946437487403 NA 0.093348316196206 NA FALSE NA 0.975 0.014 rs138114335 splice_region_variant&synonymous_variant LOW PPP6C HGNC 9323 ENST00000373547 2/7 rs138114335 1 NA T:0 T:0.0001 GCC C,T 2.471e-05 9:125171178 PPP6C HGNC Symbol protein_coding 43366 ENSG00000119414 ENSE00003641745 splice_region_variant 1.942298 0.96836 0.57746 0.744818 0.831949532138585 0 0.988609353693385 TRUE 2.63701e-05 ENSE00000806630_006 ENSE00000806630 006 9 127933332 127933501 - 32 96 42 C T 127933458 2521 44 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCAGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG 125171052 125171222 125171178 125171179 125171179 exon 2 0.0208333333333333 ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCAGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG ATGTTGTAGTAAATGTTTACCTTTTATTTTCTCTTTTTATAGCGGCTATGTGACTACGTTTGTGACCTCCTCTTAGAAGAGTCAAATGTTCAGCCAGTATCAACACCAGTAACAGTGTGTGGAGATATCCATGGACAGGTAAAATTTCATGAGCAGATTTTTAAGTTTTG mutant NA NA NA NA NA 198 193 1 0.999179672406881 0.999589836203441 NA NA 0.984193779270797 0.82369909570401 NA NA 0.0158062207292033 0.175480576702871 NA 0.903946437487403 NA 0.0956433987160372 NA FALSE NA 1 6.882 . missense_variant&splice_region_variant MODERATE PPP6C HGNC 9323 ENST00000373547 2/7 COSM1553916&COSM1553915 1 tolerated(0.58) benign(0) NA CCG C,T 3.295e-05 9:125171179 PPP6C HGNC Symbol protein_coding 43366 ENSG00000119414 ENSE00003641745 missense_variant 4.327172 0.99379 0.97092 0.744818 0.987129668941449 0 0.988609353693385 TRUE 2.22797e-05 ENSE00000806645_000 ENSE00000806645 000 9 127652633 127652802 - 35 90 45 NA NA NA NA NA GGGGACATCGCCCCTCAGCGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCACCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 NA NA NA NA NA NA AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC natural NA NA NA NA NA 1296 3123 0.951421929416769 0.992081811092474 0.971751870254622 NA NA 0.951421929416769 0.992081811092474 NA NA 0 0 NA 0.971751870254622 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GOLGA1 NA NA NA ENSG00000136935 ENSE00003481192 NA NA NA NA NA NA NA 0.00610739448233049 FALSE NA ENSE00000806645_002 ENSE00000806645 002 9 127652633 127652802 - 35 90 45 C T 127652651 2488 152 GGGGACATCGCCCCTCAGTGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCACCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890371 124890372 124890372 downstr_intron 17 1.5 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACACTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 253 685 0.978498533400268 0.989582592323213 0.984040562861741 NA NA 0.951421929416769 0.992081811092474 NA NA 0.0270766039834983 -0.00249921876926007 NA 0.971751870254622 NA 0.0122886926071191 NA FALSE NA 0 -1.121 NA NA NA GOLGA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:124890372 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 intron_variant 0.137476 0.10402 0.00396 0.156188 0.393445967221189 0.0533323 0.00610739448233049 FALSE 0.00184506 ENSE00000806645_004 ENSE00000806645 004 9 127652633 127652802 - 35 90 45 G A 127652652 2490 151 GGGGACATCGCCCCTCAGCATGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCACCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890372 124890373 124890373 downstr_intron 16 1.47058823529412 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCATGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 828 166 0.919568614428632 0.99026966117887 0.954919137803751 NA NA 0.951421929416769 0.992081811092474 NA NA -0.0318533149881373 -0.00181214991360379 NA 0.971751870254622 NA -0.0168327324508705 NA FALSE NA 0 -1.84 . intron_variant&NMD_transcript_variant MODIFIER GOLGA1 HGNC 4424 ENST00000475407 11/17 1 NA CGT G,A 8.236e-06 9:124890373 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 intron_variant -0.036684 0.08575 0.00584 0.156188 0.405222408222195 0.0533323 0.00610739448233049 FALSE 2.43782e-05 ENSE00000806645_006 ENSE00000806645 006 9 127652633 127652802 - 35 90 45 C T 127652664 2492 139 GGGGACATCGCCCCTCAGCGTGAAACAGGGCTCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCACCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890384 124890385 124890385 downstr_intron 4 1.11764705882353 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGAGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 177 201 1 1 1 NA NA 0.951421929416769 0.992081811092474 NA NA 0.0485780705832306 0.00791818890752649 NA 0.971751870254622 NA 0.0282481297453785 NA FALSE NA 0.003 0.352 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GOLGA1 HGNC 4424 ENST00000475407 11/17 1 NA CCC C,T 8.236e-06 9:124890385 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 splice_region_variant 1.641816 0.93579 0.12277 0.156188 0.800197700436546 0.307756 0.00610739448233049 FALSE 4.06157e-06 ENSE00000806645_011 ENSE00000806645 011 9 127652633 127652802 - 35 90 45 T C 127652689 2497 114 GGGGACATCGCCCCTCAGCGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTCTGCTTCCGCACCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890409 124890410 124890410 exon -22 0.766666666666667 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAGAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 17 96 1 0.962032650415697 0.981016325207849 NA NA 0.951421929416769 0.992081811092474 NA NA 0.0485780705832306 -0.0300491606767762 NA 0.971751870254622 NA 0.0092644549532272 NA FALSE NA 0.995 0.065 rs140097195 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GOLGA1 HGNC 4424 ENST00000475407 11/18 rs140097195 1 NA C:0 C:0.0002 TTT T,C 3.295e-05 9:124890410 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 synonymous_variant 0.386577 0.94403 0.38019 0.706548 0.702252518830959 0 0.00610739448233049 FALSE 3.65488e-05 ENSE00000806645_013 ENSE00000806645 013 9 127652633 127652802 - 35 90 45 C T 127652695 2499 108 GGGGACATCGCCCCTCAGCGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTTCGCACCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890415 124890416 124890416 exon -28 0.7 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGAAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 66 1644 0.8 0.79878341988368 0.79939170994184 NA NA 0.951421929416769 0.992081811092474 NA NA -0.151421929416769 -0.193298391208794 NA 0.971751870254622 NA -0.172360160312782 NA FALSE NA 1 0.326 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GOLGA1 HGNC 4424 ENST00000475407 11/18 1 NA TCC C,T 8.236e-06 9:124890416 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 synonymous_variant 2.262688 0.96571 0.71001 0.706548 0.810685640009113 0 0.00610739448233049 FALSE 4.06105e-06 ENSE00000806645_016 ENSE00000806645 016 9 127652633 127652802 - 35 90 45 A G 127652699 2502 104 GGGGACATCGCCCCTCAGCGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCGCCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890419 124890420 124890420 exon -32 0.655555555555556 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGCGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 322 1906 0.998326579577338 0.997936531784542 0.99813155568094 NA NA 0.951421929416769 0.992081811092474 NA NA 0.0469046501605681 0.00585472069206872 NA 0.971751870254622 NA 0.0263796854263184 NA FALSE NA 1 2.499 NA NA NA GOLGA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:124890420 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 missense_variant 2.190226 0.96163 0.5239 0.706548 0.978185239154538 0 0.00610739448233049 FALSE 8.12209e-06 ENSE00000806645_018 ENSE00000806645 018 9 127652633 127652802 - 35 90 45 C T 127652701 2504 102 GGGGACATCGCCCCTCAGCGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCACTTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890421 124890422 124890422 exon -34 0.633333333333333 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAAGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 173 556 0.943627290527871 0.956302603478866 0.949964947003369 NA NA 0.951421929416769 0.992081811092474 NA NA -0.00779463888889842 -0.0357792076136071 NA 0.971751870254622 NA -0.0217869232512528 NA FALSE NA 1 0.997 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GOLGA1 HGNC 4424 ENST00000475407 11/18 1 NA CCT C,T 8.236e-06 9:124890422 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 synonymous_variant 1.984294 0.96074 0.44232 0.706548 0.839276369568244 0 0.00610739448233049 FALSE 4.06121e-06 ENSE00000806645_022 ENSE00000806645 022 9 127652633 127652802 - 35 90 45 C T 127652727 2508 76 GGGGACATCGCCCCTCAGCGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCACCTCCTCCAGGGCTTGAGCCATGGCCATGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890447 124890448 124890448 exon 31 0.344444444444444 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCATGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 66 162 0.875411882358717 0.951609541217225 0.913510711787971 NA NA 0.951421929416769 0.992081811092474 NA NA -0.0760100470580526 -0.0404722698752485 NA 0.971751870254622 NA -0.0582411584666506 NA FALSE NA 0.512 1.829 NA NA NA GOLGA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:124890448 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 missense_variant 4.624006 0.95466 0.41453 0.706548 0.998602821769548 0 0.00610739448233049 FALSE 2.43661e-05 ENSE00000806645_024 ENSE00000806645 024 9 127652633 127652802 - 35 90 45 C A 127652750 2510 53 GGGGACATCGCCCCTCAGCGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCACCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCAATTCTTCCTACAATGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890470 124890471 124890471 exon 8 0.0888888888888889 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATTGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 35 136 0 0.00508306939577681 0.0025415346978884 NA NA 0.951421929416769 0.992081811092474 NA NA -0.951421929416769 -0.986998741696697 NA 0.971751870254622 NA -0.969210335556733 NA TRUE NA 1 3.623 rs150023063 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GOLGA1 HGNC 4424 ENST00000475407 11/18 rs150023063 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CCA C,A 2.471e-05 9:124890471 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 missense_variant 1.993085 0.95969 0.66774 0.706548 0.83595783558935 0 0.00610739448233049 FALSE 2.84303e-05 ENSE00000806645_026 ENSE00000806645 026 9 127652633 127652802 - 35 90 45 T C 127652764 2512 39 GGGGACATCGCCCCTCAGCGTGAAACAGGGCCCACCTGTTGCTGGAACTCTTCCCTTTGCTTCCGCACCTCCTCCAGGGCTTGAGCCATGGCCACGCTCACAATTTCTCTTTGGCTCCATTCTTCCTACAACGCAGAAAACCACTGAGCCCCAAAACTTAGTTCACAGTT 124890353 124890523 124890484 124890485 124890485 upstr_intron -7 -0.133333333333333 AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCGTTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC AACTGTGAACTAAGTTTTGGGGCTCAGTGGTTTTCTGCATTGTAGGAAGAATGGAGCCAAAGAGAAATTGTGAGCGTGGCCATGGCTCAAGCCCTGGAGGAGGTGCGGAAGCAAAGGGAAGAGTTCCAGCAACAGGTGGGCCCTGTTTCACGCTGAGGGGCGATGTCCCC mutant NA NA NA NA NA 11 59 0.95 0.877384156695465 0.913692078347732 NA NA 0.951421929416769 0.992081811092474 NA NA -0.00142192941676944 -0.114697654397009 NA 0.971751870254622 NA -0.0580597919068891 NA FALSE NA 0.091 0.084 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GOLGA1 HGNC 4424 ENST00000475407 10/17 1 NA ATG T,C 8.236e-06 9:124890485 GOLGA1 HGNC Symbol protein_coding 70135 ENSG00000136935 ENSE00003481192 splice_region_variant -0.030681 0.16882 0.08184 0.099367 0.57852572474218 0.173949 0.00610739448233049 FALSE 4.0625e-06 ENSE00000807561_000 ENSE00000807561 000 19 58905823 58905992 + 41 99 30 NA NA NA NA NA CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 NA NA NA NA NA NA CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT natural 264 179 0.973286105026243 0.986169283245426 0.979727694135834 3715 2763 0.843890867813325 0.990307361482748 0.917099114648037 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 0 0 0 0 0.979727694135834 0.917099114648037 0 0 0 FALSE FALSE NA NA NA NA NA AC012313.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS5 NA NA NA ENSG00000083845 ENSE00000807561 NA NA NA NA NA NA NA 0.903178121006896 TRUE NA ENSE00000807561_001 ENSE00000807561 001 19 58905823 58905992 + 41 99 30 G A 58905840 3290 18 CGCAGTCTGTCCTTCTAACCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394472 58394473 58394473 upstr_intron -24 -0.560975609756098 CGCAGTCTGTCCTTCTAACCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 809 216 0.995997975674515 1 0.997998987837258 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.152107107861191 0.00969263851725166 0.979727694135834 0.917099114648037 NA 0.0808998731892211 NA FALSE NA 0 -1.646 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA AGC G,A 8.236e-06 19:58394473 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 non_coding_transcript_exon_variant 0.365116 0.19154 0.1462 0.283894 0.833693009908795 0.120601 0.903178121006896 TRUE 2.03487e-05 ENSE00000807561_002 ENSE00000807561 002 19 58905823 58905992 + 41 99 30 T G 58905843 3291 21 CGCAGTCTGTCCTTCTAGCCGGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394475 58394476 58394476 upstr_intron -21 -0.48780487804878 CGCAGTCTGTCCTTCTAGCCGGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 83 270 1 1 1 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.156109132186675 0.00969263851725166 0.979727694135834 0.917099114648037 NA 0.0829008853519635 NA FALSE NA 0.003 -0.204 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA CTG T,G 8.236e-06 19:58394476 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 non_coding_transcript_exon_variant 0.578677 0.2927 0.35806 0.283894 0.734619140245243 0.225795 0.903178121006896 TRUE 4.06739e-06 ENSE00000807561_003 ENSE00000807561 003 19 58905823 58905992 + 41 99 30 C T 58905866 3292 44 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCTATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394498 58394499 58394499 exon 3 0.0303030303030303 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCTATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 379 426 0.909085883572084 0.999628569724763 0.954357226648423 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.0651950157587593 0.00932120824201477 0.979727694135834 0.917099114648037 NA 0.037258112000387 NA FALSE NA 1 0.825 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 rs541266724 1 NA CCA C,T 1.647e-05 19:58394499 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 splice_region_variant 2.051004 0.91352 0.90228 0.67177 0.779352754806135 0 0.903178121006896 TRUE 1.21926e-05 ENSE00000807561_004 ENSE00000807561 004 19 58905823 58905992 + 41 99 30 C T 58905887 3293 65 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGTGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394519 58394520 58394520 exon 24 0.242424242424242 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGTGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 468 326 0.995152585311588 0.999514560881283 0.997333573096436 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.151261717498263 0.00920719939853487 0.979727694135834 0.917099114648037 NA 0.0802344584483992 NA FALSE NA 0.006 -2.146 rs144800741 upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 rs144800741 1 NA T:0.0005 T:0.0005 GCG C,T 0.0002471 19:58394520 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 synonymous_variant 2.276276 0.78159 0.24498 0.67177 0.73533225938597 0 0.903178121006896 TRUE 0.000259981 ENSE00000807561_005 ENSE00000807561 005 19 58905823 58905992 + 41 99 30 G A 58905888 3294 66 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCACTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394520 58394521 58394521 exon 25 0.252525252525253 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCACTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 425 501 0.862812555626915 0.995388558787119 0.929100557207017 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.0189216878135902 0.00508119730437095 0.979727694135834 0.917099114648037 NA 0.0120014425589806 NA FALSE NA 1 8.131 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA CGC G,A 1.647e-05 19:58394521 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 missense_variant 5.947348 0.96351 0.98351 0.67177 0.885775614743203 0 0.903178121006896 TRUE 8.12334e-06 ENSE00000807561_006 ENSE00000807561 006 19 58905823 58905992 + 41 99 30 C A 58905891 3295 69 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTAGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394523 58394524 58394524 exon 28 0.282828282828283 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTAGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 425 918 0.804335609093019 0.995612436369442 0.899974022731231 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA -0.0395552587203055 0.00530507488669374 0.979727694135834 0.917099114648037 NA -0.0171250919168059 NA FALSE NA 0.97 2.312 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA TCG C,A 8.236e-06 19:58394524 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 missense_variant 4.483182 0.94017 0.92436 0.67177 0.949021750915304 0 0.903178121006896 TRUE 2.437e-05 ENSE00000807561_007 ENSE00000807561 007 19 58905823 58905992 + 41 99 30 G A 58905892 3296 70 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCATGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394524 58394525 58394525 exon 29 0.292929292929293 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCATGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 245 399 0.991516841971016 0.998264456548445 0.994890649259731 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.147625974157692 0.00795709506569697 0.979727694135834 0.917099114648037 NA 0.0777915346116943 NA FALSE NA 1 8.131 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA CGT G,A 1.647e-05 19:58394525 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 missense_variant 5.666433 0.96292 0.98345 0.67177 0.98739283523187 0 0.903178121006896 TRUE 8.12262e-06 ENSE00000807561_008 ENSE00000807561 008 19 58905823 58905992 + 41 99 30 C T 58905902 3297 80 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCTTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394534 58394535 58394535 exon 39 0.393939393939394 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCTTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 1550 211 0.998684715248972 1 0.999342357624486 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.154793847435647 0.00969263851725166 0.979727694135834 0.917099114648037 NA 0.0822432429764493 NA FALSE NA 0.358 -0.56 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA CCT C,T 8.236e-06 19:58394535 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 synonymous_variant 2.061034 0.89539 0.57707 0.67177 0.576812317036612 0 0.903178121006896 TRUE 4.06081e-06 ENSE00000807561_011 ENSE00000807561 011 19 58905823 58905992 + 41 99 30 C G 58905920 3300 98 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACGATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394552 58394553 58394553 exon -43 0.575757575757576 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACGATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 393 930 0.988089906234328 0.88113223523268 0.934611070733504 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.144199038421003 -0.109175126250068 0.979727694135834 0.917099114648037 NA 0.0175119560854677 NA FALSE NA 1 0.905 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA CCA C,G 8.236e-06 19:58394553 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 synonymous_variant 1.474429 0.8997 0.91291 0.67177 0.630766015449221 0 0.903178121006896 TRUE 1.21824e-05 ENSE00000807561_012 ENSE00000807561 012 19 58905823 58905992 + 41 99 30 T C 58905922 3301 100 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCACTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394554 58394555 58394555 exon -41 0.595959595959596 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCACTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 1210 637 0.999351991568857 1 0.999675995784429 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.155461123755532 0.00969263851725166 0.979727694135834 0.917099114648037 NA 0.0825768811363921 NA FALSE NA 1 6.633 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 rs376539628 1 NA C:0 C:0.0001 ATT T,C 1.647e-05 19:58394555 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 missense_variant 5.995156 0.95636 0.97431 0.67177 0.996019449694896 0 0.903178121006896 TRUE 8.1217e-06 ENSE00000807561_014 ENSE00000807561 014 19 58905823 58905992 + 41 99 30 G A 58905965 3303 143 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTAGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394597 58394598 58394598 downstr_intron 3 1.10344827586207 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTAGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 149 1598 0.986373510909722 0.997534436349641 0.991953973629681 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.142482643096397 0.00722707486689256 0.979727694135834 0.917099114648037 NA 0.074854858981645 NA FALSE NA 0.996 1.253 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA TGG G,A 8.236e-06 19:58394598 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 splice_region_variant 0.826455 0.90443 0.9329 0.283894 0.65261418264437 0.430783 0.903178121006896 TRUE NA ENSE00000807561_016 ENSE00000807561 016 19 58905823 58905992 + 41 99 30 G A 58905972 3305 150 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGAGCACTCCGGTTGGGGGGTCT 58394455 58394625 58394604 58394605 58394605 downstr_intron 10 1.3448275862069 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGAGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 813 247 0.919601145276839 1 0.95980057263842 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.0757102774635147 0.00969263851725166 0.979727694135834 0.917099114648037 NA 0.0427014579903832 NA FALSE NA 0.001 0.966 NA NA NA AC012313.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:58394605 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 non_coding_transcript_exon_variant 0.276686 0.29501 0.34462 0.283894 0.218644468280084 0.202456 0.903178121006896 TRUE 6.49746e-05 ENSE00000807561_018 ENSE00000807561 018 19 58905823 58905992 + 41 99 30 C G 58905976 3307 154 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCAGTCCGGTTGGGGGGTCT 58394455 58394625 58394608 58394609 58394609 downstr_intron 14 1.48275862068966 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCAGTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 630 74 0.992271222158403 1 0.996135611079201 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.148380354345078 0.00969263851725166 0.979727694135834 0.917099114648037 NA 0.079036496431165 NA FALSE NA 0 0.118 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA ACT C,G 8.236e-06 19:58394609 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 non_coding_transcript_exon_variant 0.00057 0.2378 0.45025 0.283894 0.389476689253448 0.202456 0.903178121006896 TRUE 8.12209e-06 ENSE00000807561_019 ENSE00000807561 019 19 58905823 58905992 + 41 99 30 C T 58905979 3308 157 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCTGGTTGGGGGGTCT 58394455 58394625 58394611 58394612 58394612 downstr_intron 17 1.58620689655172 CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCTGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT mutant NA NA NA NA NA 659 318 0.998996520775071 0.817608924107892 0.908302722441481 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 NA NA 0.155105652961746 -0.172698437374856 0.979727694135834 0.917099114648037 NA -0.00879639220655498 NA FALSE NA 0 -6.101 . upstream_gene_variant MODIFIER AC012313.1 Clone_based_ensembl_gene NA ENST00000601382 1 NA CCG C,T 3.295e-05 19:58394612 RPS5 HGNC Symbol protein_coding 8406 ENSG00000083845 ENSE00000807561 non_coding_transcript_exon_variant 0.312619 0.23942 0.07485 0.283894 0.181264143686028 0.202456 0.903178121006896 TRUE 4.46719e-05 ENSE00000807561_BRK ENSE00000807561 BRK 19 58905823 58905992 + 41 99 30 A,G; T,T NA NA NA CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTTTGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGCCGGGTGAGGGCACTCCGGTTGGGGGGTCT 58394455 58394625 NA NA NA NA NA NA CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTTTGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGCCGGGTGAGGGCACTCCGGTTGGGGGGTCT CGCAGTCTGTCCTTCTAGCCTGACCCCTGCTGTCTTCCTAGGCCATCTGGCTGCTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGTGGGTGAGGGCACTCCGGTTGGGGGGTCT control 31 105 0 0 0 NA NA NA NA NA 0.973286105026243 0.986169283245426 0.843890867813325 0.990307361482748 -0.973286105026243 -0.986169283245426 NA NA 0.979727694135834 0.917099114648037 -0.979727694135834 NA NA NA TRUE NA NA NA NA NA AC012313.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS5 NA NA NA ENSG00000083845 ENSE00000807561 NA NA NA NA NA NA NA 0.903178121006896 TRUE NA ENSE00000808094_000 ENSE00000808094 000 14 74531495 74531664 - 30 99 41 NA NA NA NA NA CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 NA NA NA NA NA NA CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT natural 75 67 0.998162529623416 0.998659764301509 0.998411146962462 9901 10120 0.960569420924091 0.966048659722014 0.963309040323052 0.998162529623416 0.998659764301509 0.960569420924091 0.966048659722014 0 0 0 0 0.998411146962462 0.963309040323052 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003487593 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00000808094_010 ENSE00000808094 010 14 74531495 74531664 - 30 99 41 C A 74531572 988 93 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCTGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064868 74064869 74064869 exon -48 0.525252525252525 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCTGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 579 229 0.99849775467201 1 0.999248877336005 0.998162529623416 0.998659764301509 0.960569420924091 0.966048659722014 NA NA 0.0379283337479192 0.0339513402779864 0.998411146962462 0.963309040323052 NA 0.0359398370129528 NA FALSE NA 1 7.82 NA NA NA ALDH6A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH6A1 NA NA NA ENSG00000119711 ENSE00003487593 missense_variant 6.942297 0.96884 0.94769 0.706298 0.995856256429511 0 1.62229467445935e-05 FALSE 4.07166e-06 ENSE00000808094_BRK ENSE00000808094 BRK 14 74531495 74531664 - 30 99 41 A,G; T,T NA NA NA CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTTTGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGCCAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 NA NA NA NA NA NA CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTTTGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGCCAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT control 69 25 0 0 0 1225 945 0.0110154451901467 0 0.00550772259507333 0.998162529623416 0.998659764301509 0.960569420924091 0.966048659722014 -0.998162529623416 -0.998659764301509 -0.949553975733945 -0.966048659722014 0.998411146962462 0.963309040323052 -0.998411146962462 -0.957801317727979 0.0406098292344834 TRUE TRUE NA NA NA NA NA ALDH6A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH6A1 NA NA NA ENSG00000119711 ENSE00003487593 NA NA NA NA NA NA NA 1.62229467445935e-05 FALSE NA ENSE00000808103_000 ENSE00000808103 000 14 74541610 74541779 - 48 63 59 NA NA NA NA NA TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 NA NA NA NA NA NA TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT natural 16 11 0.996404045742179 0.998127837098018 0.997265941420099 2982 3549 0.968518770212337 0.858844294493684 0.91368153235301 0.996404045742179 0.998127837098018 0.968518770212337 0.858844294493684 0 0 0 0 0.997265941420099 0.91368153235301 0 0 0 FALSE FALSE NA NA NA NA NA ALDH6A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH6A1 NA NA NA ENSG00000119711 ENSE00003513907 NA NA NA NA NA NA NA 1.62229467445935e-05 FALSE NA ENSE00000808103_BRK ENSE00000808103 BRK 14 74541610 74541779 - 48 63 59 A,G; T,T NA NA NA TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACTTGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGCCGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 NA NA NA NA NA NA TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACTTGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGCCGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT control NA NA NA NA NA 528 6687 0.00516514867113257 0.00394941218748817 0.00455728042931037 0.996404045742179 0.998127837098018 0.968518770212337 0.858844294493684 NA NA -0.963353621541204 -0.854894882306196 0.997265941420099 0.91368153235301 NA -0.9091242519237 NA TRUE NA NA NA NA NA NA ALDH6A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH6A1 NA NA NA ENSG00000119711 ENSE00003513907 NA NA NA NA NA NA NA 1.62229467445935e-05 FALSE NA ENSE00000808156_000 ENSE00000808156 000 14 74947364 74947533 - 41 78 51 NA NA NA NA NA AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 NA NA NA NA NA NA AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG natural 44 75 0.999193815245069 0.978701960470474 0.988947887857772 1803 1351 0.974090993780171 0.89347222287879 0.933781608329481 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 0 0 0 0 0.988947887857772 0.933781608329481 0 0 0 FALSE FALSE NA NA NA NA NA RAP1AP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPC2 NA NA NA ENSG00000119655 ENSE00003534117 NA NA NA NA NA NA NA 0.00870069266662882 FALSE NA ENSE00000808156_002 ENSE00000808156 002 14 74947364 74947533 - 41 78 51 A T 74947377 1028 157 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCAAGGGTGGAGGGAAG 74480660 74480830 74480673 74480674 74480674 downstr_intron 28 1.7 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCAAGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant 28 21 0.982148091024687 0.988343344406303 0.985245717715495 290 18 0.971320544958343 0.95 0.960660272479172 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 -0.017045724220382 0.00964138393582836 -0.00277044882182809 0.05652777712121 0.988947887857772 0.933781608329481 -0.00370217014227681 0.026878664149691 0.0305808342919678 FALSE FALSE 0 -1.932 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 rs202134174 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 CAT A,T 1.647e-05 14:74480674 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 missense_variant 0.743734 0.14714 0.02648 0.732398 0.717484015069713 0 0.00870069266662882 FALSE 1.21862e-05 ENSE00000808156_004 ENSE00000808156 004 14 74947364 74947533 - 41 78 51 C T 74947381 1030 153 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGAGCATGGGTGGAGGGAAG 74480660 74480830 74480677 74480678 74480678 downstr_intron 24 1.6 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGAGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant 19 50 0.997869260318494 0.996964158966552 0.997416709642523 233 49 0.897853681035066 1 0.948926840517533 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 -0.00132455492657491 0.0182621984960772 -0.0762373127451055 0.10652777712121 0.988947887857772 0.933781608329481 0.00846882178475117 0.0151452321880523 0.00667641040330114 FALSE FALSE 0.072 0.833 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA CCC C,T 1.647e-05 14:74480678 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 splice_region_variant 1.872729 0.93432 0.06864 0.732398 0.585693863473313 0 0.00870069266662882 FALSE 1.21851e-05 ENSE00000808156_006 ENSE00000808156 006 14 74947364 74947533 - 41 78 51 C A 74947391 1032 143 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGTGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480687 74480688 74480688 downstr_intron 14 1.35 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGTGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant NA NA NA NA NA 179 270 0.99914280490261 0.995208751973522 0.997175778438066 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 NA NA 0.025051811122438 0.101736529094732 0.988947887857772 0.933781608329481 NA 0.0633941701085852 NA FALSE NA 0 0.843 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA CCC C,A 8.236e-06 14:74480688 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 missense_variant 0.808035 0.49022 0.38697 0.732398 0.641610187438788 0 0.00870069266662882 FALSE 4.06134e-06 ENSE00000808156_010 ENSE00000808156 010 14 74947364 74947533 - 41 78 51 C T 74947404 1036 130 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCATAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480700 74480701 74480701 downstr_intron 1 1.025 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCATAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant 52 57 0 0 0 NA NA NA NA NA 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 -0.999193815245069 -0.978701960470474 NA NA 0.988947887857772 0.933781608329481 -0.988947887857772 NA NA NA TRUE 0.718 -0.18 rs140130028 upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 rs140130028&COSM957760 1 T:0.0010 T:0.0008 T:0 NA T:0 T:0.003 T:0.001 T:0.0016 T:0.0088 ACG C,T 0.003632 14:74480701 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 splice_donor_variant 0.603087 0.3644 0.05364 0.732398 0.653711704822208 0 0.00870069266662882 FALSE 0.00374431 ENSE00000808156_011 ENSE00000808156 011 14 74947364 74947533 - 41 78 51 G A 74947405 1037 129 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATTGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480701 74480702 74480702 exon -1 1 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATTGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant NA NA NA NA NA 14 74 0.8 1 0.9 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 NA NA -0.174090993780171 0.10652777712121 0.988947887857772 0.933781608329481 NA -0.0337816083294807 NA FALSE NA 0.994 1.338 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA CGA G,A 8.236e-06 14:74480702 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 splice_region_variant 0.195389 0.50602 0.65057 0.732398 0.440618485793882 0 0.00870069266662882 FALSE 8.12216e-06 ENSE00000808156_013 ENSE00000808156 013 14 74947364 74947533 - 41 78 51 A G 74947425 1039 109 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCCGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480721 74480722 74480722 exon -21 0.743589743589744 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCCGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant 22 16 0.999615018679624 1 0.999807509339812 NA NA NA NA NA 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 0.000421203434555761 0.0212980395295257 NA NA 0.988947887857772 0.933781608329481 0.0108596214820407 NA NA NA FALSE 1 4.634 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA CAG A,G 8.237e-06 14:74480722 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 missense_variant 5.315053 0.98913 0.96545 0.732398 0.995229057294124 0 0.00870069266662882 FALSE 4.06111e-06 ENSE00000808156_015 ENSE00000808156 015 14 74947364 74947533 - 41 78 51 G A 74947447 1041 87 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGATAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480743 74480744 74480744 exon 36 0.461538461538462 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGATAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant 51 64 0.966239072710001 0.986226090250403 0.976232581480202 24 129 1 1 1 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 -0.0329547425350674 0.00752412977992856 0.0259090062198285 0.10652777712121 0.988947887857772 0.933781608329481 -0.0127153063775694 0.0662183916705193 0.0789336980480887 FALSE FALSE 1 2.068 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA TGT G,A 8.236e-06 14:74480744 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 synonymous_variant -0.547007 0.88283 0.89163 0.732398 0.361907916766653 0 0.00870069266662882 FALSE 4.06147e-06 ENSE00000808156_017 ENSE00000808156 017 14 74947364 74947533 - 41 78 51 T C 74947466 1043 68 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGGGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480762 74480763 74480763 exon 17 0.217948717948718 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGGGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant NA NA NA NA NA 14 245 1 0.999844515145754 0.999922257572877 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 NA NA 0.0259090062198285 0.106372292266964 0.988947887857772 0.933781608329481 NA 0.0661406492433962 NA FALSE NA 0.989 4.365 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA CTC T,C 8.236e-06 14:74480763 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 missense_variant 5.916987 0.99017 0.97582 0.732398 0.998770005991808 0 0.00870069266662882 FALSE NA ENSE00000808156_018 ENSE00000808156 018 14 74947364 74947533 - 41 78 51 C T 74947473 1044 61 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGATGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480769 74480770 74480770 exon 10 0.128205128205128 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGATGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant NA NA NA NA NA 116 1621 1 0.998085885038404 0.999042942519202 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 NA NA 0.0259090062198285 0.104613662159614 0.988947887857772 0.933781608329481 NA 0.0652613341897214 NA FALSE NA 1 1.06 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA ACC C,T 8.236e-06 14:74480770 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 missense_variant 4.525512 0.98694 0.91859 0.732398 0.998194554248005 0 0.00870069266662882 FALSE 8.12744e-06 ENSE00000808156_019 ENSE00000808156 019 14 74947364 74947533 - 41 78 51 G A 74947476 1045 58 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAATTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480772 74480773 74480773 exon 7 0.0897435897435897 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAATTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant 113 30 0.654596826950485 0.777367569982994 0.715982198466739 162 77 0.998208073260701 1 0.999104036630351 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 -0.344596988294584 -0.201334390487481 0.0241170794805299 0.10652777712121 0.988947887857772 0.933781608329481 -0.272965689391032 0.06532242830087 0.338288117691902 FALSE FALSE 0.999 1.028 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA AGT G,A 8.237e-06 14:74480773 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 synonymous_variant 0.941434 0.95839 0.86722 0.732398 0.626655910214108 0 0.00870069266662882 FALSE 2.03232e-05 ENSE00000808156_020 ENSE00000808156 020 14 74947364 74947533 - 41 78 51 T C 74947484 1046 50 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCGGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480780 74480781 74480781 upstr_intron -2 -0.0196078431372549 AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCGGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant 43 97 0.85 0.85 0.85 82 314 0.842387179407739 0.88245476004355 0.862420969725645 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 -0.149193815245069 -0.128701960470474 -0.131703814372433 -0.0110174628352395 0.988947887857772 0.933781608329481 -0.138947887857772 -0.0713606386038362 0.0675872492539353 FALSE FALSE 1 7.116 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA CTG T,C 8.237e-06 14:74480781 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 splice_acceptor_variant 5.220413 0.99456 0.99677 0.106106 0.99491088923765 0.971051 0.00870069266662882 FALSE 4.06474e-06 ENSE00000808156_022 ENSE00000808156 022 14 74947364 74947533 - 41 78 51 A G 74947508 1048 26 AGAAGTCAGGTCCTATTTTCATTTTCCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG 74480660 74480830 74480804 74480805 74480805 upstr_intron -26 -0.490196078431373 AGAAGTCAGGTCCTATTTTCATTTTCCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG AGAAGTCAGGTCCTATTTTCATTTTTCTCAATTATTTTTCTCTTTCTCCAGATAAAACTGGTGGTGGAGTGGCAACTTCAGGATGACAAAAACCAAAGTCTCTTCTGCTGGGAAATCCCAGTACAGATCGTAAGTCTATCTGGGGGTGAGAGGGCATGGGTGGAGGGAAG mutant NA NA NA NA NA 149 97 1 1 1 0.999193815245069 0.978701960470474 0.974090993780171 0.89347222287879 NA NA 0.0259090062198285 0.10652777712121 0.988947887857772 0.933781608329481 NA 0.0662183916705193 NA FALSE NA 0.019 1.668 . upstream_gene_variant MODIFIER RAP1AP HGNC 9856 ENST00000554629 1 NA GAA A,G 1.647e-05 14:74480805 NPC2 HGNC Symbol protein_coding 17985 ENSG00000119655 ENSE00003534117 intron_variant 1.052518 0.65095 0.4971 0.106106 0.777935997880134 0.156438 0.00870069266662882 FALSE 8.14883e-06 ENSE00000808204_000 ENSE00000808204 000 14 75131504 75131673 - 35 90 45 NA NA NA NA NA TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 NA NA NA NA NA NA TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG natural NA NA NA NA NA 2327 1112 0.982508302701427 0.885271130185549 0.933889716443488 NA NA 0.982508302701427 0.885271130185549 NA NA 0 0 NA 0.933889716443488 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AREL1 NA NA NA ENSG00000119682 ENSE00003658133 NA NA NA NA NA NA NA 0.0118020841149469 FALSE NA ENSE00000808204_001 ENSE00000808204 001 14 75131504 75131673 - 35 90 45 A G 75131514 1049 160 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGCTGGATTTGTG 74664800 74664970 74664810 74664811 74664811 downstr_intron 25 1.73529411764706 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGCTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 556 22 0.999406355590597 1 0.999703177795298 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0168980528891695 0.114728869814451 NA 0.933889716443488 NA 0.0658134613518101 NA FALSE NA 0.001 0.799 NA NA NA AREL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:74664811 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 intron_variant 0.333691 0.26126 0.07168 0.295142 0.618346605254513 0.156438 0.0118020841149469 FALSE 2.44545e-05 ENSE00000808204_003 ENSE00000808204 003 14 75131504 75131673 - 35 90 45 C T 75131531 1051 143 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGAACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664827 74664828 74664828 downstr_intron 8 1.23529411764706 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGAACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 888 139 0.993552289380949 1 0.996776144690474 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0110439866795213 0.114728869814451 NA 0.933889716443488 NA 0.062886428246986 NA FALSE NA 0 -0.035 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW AREL1 HGNC 20363 ENST00000557688 1/1 1 NA TCC C,T 4.137e-05 14:74664828 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 splice_region_variant 0.675219 0.22081 0.04683 0.295142 0.553844962088451 0.310989 0.0118020841149469 FALSE 2.03355e-05 ENSE00000808204_004 ENSE00000808204 004 14 75131504 75131673 - 35 90 45 T C 75131545 1052 129 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGGGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664841 74664842 74664842 exon -7 0.933333333333333 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGGGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 78 412 1 0.987662722996921 0.993831361498461 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0174916972985727 0.102391592811372 NA 0.933889716443488 NA 0.0599416450549725 NA FALSE NA 1 1.215 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA CTC T,C 2.482e-05 14:74664842 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 synonymous_variant 0.367303 0.96467 0.93664 0.706548 0.693560446729784 0 0.0118020841149469 FALSE 1.21899e-05 ENSE00000808204_007 ENSE00000808204 007 14 75131504 75131673 - 35 90 45 T G 75131579 1055 95 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCCTGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664875 74664876 74664876 exon -41 0.555555555555556 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCCTGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 31 22 1 1 1 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0174916972985727 0.114728869814451 NA 0.933889716443488 NA 0.0661102835565117 NA FALSE NA 1 7.781 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA ATG T,G 8.27e-06 14:74664876 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 missense_variant 6.257651 0.99495 0.99436 0.706548 0.981077421040981 0 0.0118020841149469 FALSE 4.06171e-06 ENSE00000808204_008 ENSE00000808204 008 14 75131504 75131673 - 35 90 45 G A 75131580 1056 94 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCTATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664876 74664877 74664877 exon -42 0.544444444444444 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCTATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 572 1911 0.991838333340587 0.988900646918793 0.99036949012969 NA NA 0.982508302701427 0.885271130185549 NA NA 0.00933003063916016 0.103629516733243 NA 0.933889716443488 NA 0.0564797736862017 NA FALSE NA 1 6.348 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA TGG G,A 8.27e-06 14:74664877 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 missense_variant 5.812077 0.98824 0.98336 0.706548 0.998031389860502 0 0.0118020841149469 FALSE 8.12433e-06 ENSE00000808204_009 ENSE00000808204 009 14 75131504 75131673 - 35 90 45 G A 75131582 1057 92 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGTCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664878 74664879 74664879 exon -44 0.522222222222222 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGTCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 697 20 0.934779881461119 0.812480966566761 0.87363042401394 NA NA 0.982508302701427 0.885271130185549 NA NA -0.0477284212403079 -0.0727901636187884 NA 0.933889716443488 NA -0.0602592924295481 NA FALSE NA 1 7.727 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 rs370811935 1 NA A:0.0003 A:0 GGC G,A 8.27e-06 14:74664879 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 missense_variant 2.779715 0.99223 0.99152 0.706548 0.998521712587249 0 0.0118020841149469 FALSE 4.06204e-06 ENSE00000808204_010 ENSE00000808204 010 14 75131504 75131673 - 35 90 45 A T 75131593 1058 81 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCAGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664889 74664890 74664890 exon 36 0.4 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCAGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 133 36 1 1 1 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0174916972985727 0.114728869814451 NA 0.933889716443488 NA 0.0661102835565117 NA FALSE NA 1 2.183 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA CAG A,T 1.654e-05 14:74664890 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 synonymous_variant 0.265244 0.97923 0.92399 0.706548 0.710427406692702 0 0.0118020841149469 FALSE 1.21865e-05 ENSE00000808204_012 ENSE00000808204 012 14 75131504 75131673 - 35 90 45 C T 75131620 1060 54 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATATGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664916 74664917 74664917 exon 9 0.1 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATATGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 175 97 1 0.999606694879297 0.999803347439648 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0174916972985727 0.114335564693747 NA 0.933889716443488 NA 0.06591363099616 NA FALSE NA 1 5.86 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 rs368604464 1 NA T:0.0003 T:0 ACA C,T 1.654e-05 14:74664917 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 missense_variant 3.918657 0.99529 0.98963 0.732398 0.984595257943993 0 0.0118020841149469 FALSE 2.03305e-05 ENSE00000808204_013 ENSE00000808204 013 14 75131504 75131673 - 35 90 45 C A 75131623 1061 51 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTTATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664919 74664920 74664920 exon 6 0.0666666666666667 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTTATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 355 62 0.995027065584316 1 0.997513532792158 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0125187628828888 0.114728869814451 NA 0.933889716443488 NA 0.0636238163486698 NA FALSE NA 1 1.976 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA TCA C,A 1.655e-05 14:74664920 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 synonymous_variant 1.991239 0.9751 0.91322 0.732398 0.675562494541696 0 0.0118020841149469 FALSE 1.22024e-05 ENSE00000808204_014 ENSE00000808204 014 14 75131504 75131673 - 35 90 45 C G 75131626 1062 48 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTCCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664922 74664923 74664923 exon 3 0.0333333333333333 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTCCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 322 61 1 1 1 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0174916972985727 0.114728869814451 NA 0.933889716443488 NA 0.0661102835565117 NA FALSE NA 1 1.559 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA GCA C,G 8.272e-06 14:74664923 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 splice_region_variant 0.549412 0.96949 0.93671 0.732398 0.539053872559454 0 0.0118020841149469 FALSE 8.1361e-06 ENSE00000808204_015 ENSE00000808204 015 14 75131504 75131673 - 35 90 45 A G 75131633 1063 41 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTCCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664929 74664930 74664930 upstr_intron -5 -0.0888888888888889 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTCCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 199 411 0.991422948629669 0.968640049927535 0.980031499278602 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0089146459282412 0.0833689197419853 NA 0.933889716443488 NA 0.0461417828351133 NA FALSE NA 0.989 3.031 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA GAA A,G 8.272e-06 14:74664930 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 splice_region_variant 0.472291 0.79505 0.8927 0.106106 0.569952541549261 0.232237 0.0118020841149469 FALSE 8.14365e-06 ENSE00000808204_016 ENSE00000808204 016 14 75131504 75131673 - 35 90 45 A G 75131634 1064 40 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTCTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664930 74664931 74664931 upstr_intron -6 -0.111111111111111 TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTCTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant 40 12 0.85 0.85 0.85 2194 200 0.937882713944634 0.965356144992617 0.951619429468626 NA NA 0.982508302701427 0.885271130185549 NA NA -0.0446255887567936 0.0800850148070681 NA 0.933889716443488 NA 0.0177297130251373 NA FALSE NA 1 2.271 rs146800657 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 rs146800657 1 G:0.0042 G:0.0159 G:0 NA G:0 G:0 G:0 G:0.0064 G:0 AAA A,G 0.0006452 14:74664931 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 splice_region_variant 0.145633 0.59923 0.18976 0.099367 0.43606477595188 0.231043 0.0118020841149469 FALSE 0.000480233 ENSE00000808204_020 ENSE00000808204 020 14 75131504 75131673 - 35 90 45 T C 75131656 1068 18 TTGTCTCTCTGACTGTCGTAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664952 74664953 74664953 upstr_intron -28 -0.6 TTGTCTCTCTGACTGTCGTAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 12 138 1 1 1 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0174916972985727 0.114728869814451 NA 0.933889716443488 NA 0.0661102835565117 NA FALSE NA 0.019 0.797 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA ATG T,C 8.272e-06 14:74664953 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 non_coding_transcript_exon_variant -0.212631 0.18782 0.08497 0.106106 0.566924505399449 0.205061 0.0118020841149469 FALSE 4.11154e-06 ENSE00000808204_021 ENSE00000808204 021 14 75131504 75131673 - 35 90 45 G A 75131657 1069 17 TTGTCTCTCTGACTGTTATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 74664953 74664954 74664954 upstr_intron -29 -0.622222222222222 TTGTCTCTCTGACTGTTATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG mutant NA NA NA NA NA 360 1252 1 0.998554523288868 0.999277261644434 NA NA 0.982508302701427 0.885271130185549 NA NA 0.0174916972985727 0.113283393103319 NA 0.933889716443488 NA 0.0653875452009457 NA FALSE NA 0.021 1.931 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AREL1 HGNC 20363 ENST00000557688 1/2 1 NA TGA G,A 8.273e-06 14:74664954 AREL1 HGNC Symbol protein_coding 59678 ENSG00000119682 ENSE00003658133 non_coding_transcript_exon_variant 0.046825 0.16302 0.15073 0.106106 0.315034111285132 0.14166 0.0118020841149469 FALSE 4.12225e-06 ENSE00000808204_BRK ENSE00000808204 BRK 14 75131504 75131673 - 35 90 45 A,G; T,T NA NA NA TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCTTCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGCCAAATGGACCAAACTTCTTTCAGTTGGATTTGTG 74664800 74664970 NA NA NA NA NA NA TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCTTCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGCCAAATGGACCAAACTTCTTTCAGTTGGATTTGTG TTGTCTCTCTGACTGTCATAGTAACACCTTACCATCTTTTTCCAGCTGCTGATGTGTGGGACTGGAGACATCAGTGTGTCTGACTTCAAAGCCCATGCAGTAGTTGTTGGTGGCTCATGGCATTTCAGAGAAAAGGTAAATGGACCAAACTTCTTTCAGTTGGATTTGTG control NA NA NA NA NA 1327 68 0 0.00957192270703435 0.00478596135351717 NA NA 0.982508302701427 0.885271130185549 NA NA -0.982508302701427 -0.875699207478515 NA 0.933889716443488 NA -0.929103755089971 NA TRUE NA NA NA NA NA NA AREL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AREL1 NA NA NA ENSG00000119682 ENSE00003658133 NA NA NA NA NA NA NA 0.0118020841149469 FALSE NA ENSE00000808300_000 ENSE00000808300 000 14 75472527 75472696 + 42 96 32 NA NA NA NA NA CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 NA NA NA NA NA NA CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG natural 175 303 0.84686148668917 0.784468353414754 0.815664920051962 6183 4656 0.934852647022496 0.767206596367164 0.85102962169483 0.84686148668917 0.784468353414754 0.934852647022496 0.767206596367164 0 0 0 0 0.815664920051962 0.85102962169483 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00000808300 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00000808300_013 ENSE00000808300 013 14 75472527 75472696 + 42 96 32 A G 75472653 1118 127 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAGGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005949 75005950 75005950 exon -12 0.885416666666667 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAGGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 2406 2462 0.825005107918856 0.837549111472703 0.83127710969578 0.84686148668917 0.784468353414754 0.934852647022496 0.767206596367164 NA NA -0.10984753910364 0.0703425151055395 0.815664920051962 0.85102962169483 NA -0.0197525119990503 NA FALSE NA 0.997 2.545 NA NA NA EIF2B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF2B2 NA NA NA ENSG00000119718 ENSE00000808300 missense_variant 6.401411 0.98021 0.93206 0.722319 0.998451222473313 0 0.000428255871835589 FALSE 4.06111e-06 ENSE00000808300_BRK ENSE00000808300 BRK 14 75472527 75472696 + 42 96 32 A,G; T,T NA NA NA CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCTTGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGCCGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 NA NA NA NA NA NA CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCTTGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGCCGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG control 57 122 0 0 0 NA NA NA NA NA 0.84686148668917 0.784468353414754 0.934852647022496 0.767206596367164 -0.84686148668917 -0.784468353414754 NA NA 0.815664920051962 0.85102962169483 -0.815664920051962 NA NA NA TRUE NA NA NA NA NA EIF2B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF2B2 NA NA NA ENSG00000119718 ENSE00000808300 NA NA NA NA NA NA NA 0.000428255871835589 FALSE NA ENSE00000808440_000 ENSE00000808440 000 14 76549511 76549680 + 59 63 48 NA NA NA NA NA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 NA NA NA NA NA NA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA natural NA NA NA NA NA 413 532 0.870438954769276 0.74273264896529 0.806585801867283 NA NA 0.870438954769276 0.74273264896529 NA NA 0 0 NA 0.806585801867283 NA 0 NA FALSE NA NA NA NA NA NA IFT43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT43 NA NA NA ENSG00000119650 ENSE00003562064 NA NA NA NA NA NA NA 4.37841580307519e-07 FALSE NA ENSE00000808440_003 ENSE00000808440 003 14 76549511 76549680 + 59 63 48 C T 76549548 1162 38 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACTTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 76083204 76083205 76083205 upstr_intron -22 -0.355932203389831 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACTTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA mutant NA NA NA NA NA 106 113 1 1 1 NA NA 0.870438954769276 0.74273264896529 NA NA 0.129561045230724 0.25726735103471 NA 0.806585801867283 NA 0.193414198132717 NA FALSE NA 0 -0.369 . intron_variant MODIFIER IFT43 HGNC 29669 ENST00000314067 7/8 1 NA CCT C,T 8.236e-06 14:76083205 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003562064 intron_variant 0.157506 0.19017 0.00638 0.164513 0.761027026320103 0.0745665 4.37841580307519e-07 FALSE NA ENSE00000808440_004 ENSE00000808440 004 14 76549511 76549680 + 59 63 48 T G 76549549 1163 39 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCGTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 76083205 76083206 76083206 upstr_intron -21 -0.338983050847458 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCGTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA mutant NA NA NA NA NA 1068 61 0.901465022385944 1 0.950732511192972 NA NA 0.870438954769276 0.74273264896529 NA NA 0.0310260676166672 0.25726735103471 NA 0.806585801867283 NA 0.144146709325689 NA FALSE NA 0 -0.13 . intron_variant MODIFIER IFT43 HGNC 29669 ENST00000314067 7/8 1 NA CTT T,G 8.237e-06 14:76083206 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003562064 intron_variant 0.193654 0.34444 0.03162 0.164513 0.741070103236118 0.0745665 4.37841580307519e-07 FALSE 4.06478e-06 ENSE00000808440_008 ENSE00000808440 008 14 76549511 76549680 + 59 63 48 T C 76549564 1167 54 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATCCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 76083220 76083221 76083221 upstr_intron -6 -0.0847457627118644 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATCCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA mutant NA NA NA NA NA 65 87 1 0.990800197443833 0.995400098721916 NA NA 0.870438954769276 0.74273264896529 NA NA 0.129561045230724 0.248067548478543 NA 0.806585801867283 NA 0.188814296854633 NA FALSE NA 0.158 1.755 . splice_region_variant&intron_variant LOW IFT43 HGNC 29669 ENST00000314067 7/8 1 NA TTC T,C 8.236e-06 14:76083221 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003562064 splice_region_variant 0.894775 0.35287 0.65436 0.164513 0.679191529592537 0.225876 4.37841580307519e-07 FALSE NA ENSE00000808440_010 ENSE00000808440 010 14 76549511 76549680 + 59 63 48 G T 76549574 1169 64 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGTGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 76083230 76083231 76083231 exon 5 0.0793650793650794 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGTGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA mutant NA NA NA NA NA 69 55 1 1 1 NA NA 0.870438954769276 0.74273264896529 NA NA 0.129561045230724 0.25726735103471 NA 0.806585801867283 NA 0.193414198132717 NA FALSE NA 1 6.033 . missense_variant MODERATE IFT43 HGNC 29669 ENST00000314067 8/9 1 deleterious(0) probably_damaging(0.998) NA GGG G,T 8.236e-06 14:76083231 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003562064 missense_variant 6.489147 0.99538 0.99279 0.706298 0.998029245342213 0 4.37841580307519e-07 FALSE 4.06124e-06 ENSE00000808440_018 ENSE00000808440 018 14 76549511 76549680 + 59 63 48 A T 76549597 1177 87 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCTCCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 76083253 76083254 76083254 exon 28 0.444444444444444 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCTCCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA mutant NA NA NA NA NA 259 128 0.979876021903601 0.915845083097152 0.947860552500376 NA NA 0.870438954769276 0.74273264896529 NA NA 0.109437067134324 0.173112434131862 NA 0.806585801867283 NA 0.141274750633093 NA FALSE NA 1 6.811 NA NA NA IFT43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:76083254 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003562064 missense_variant 3.954387 0.99361 0.99211 0.706298 0.993519775750249 0 4.37841580307519e-07 FALSE 4.06124e-06 ENSE00000808440_021 ENSE00000808440 021 14 76549511 76549680 + 59 63 48 G A 76549609 1180 99 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCACGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 76083265 76083266 76083266 exon -24 0.634920634920635 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCACGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA mutant NA NA NA NA NA 48 499 1 1 1 NA NA 0.870438954769276 0.74273264896529 NA NA 0.129561045230724 0.25726735103471 NA 0.806585801867283 NA 0.193414198132717 NA FALSE NA 1 5.033 . missense_variant MODERATE IFT43 HGNC 29669 ENST00000314067 8/9 1 tolerated(0.06) benign(0.402) NA CGC G,A 2.471e-05 14:76083266 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003562064 missense_variant 4.150543 0.98666 0.98707 0.706298 0.997651538520875 0 4.37841580307519e-07 FALSE 6.09266e-05 ENSE00000808440_030 ENSE00000808440 030 14 76549511 76549680 + 59 63 48 G A 76549628 1189 118 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCAGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 76083284 76083285 76083285 exon -5 0.936507936507937 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCAGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA mutant NA NA NA NA NA 161 1388 1 0.996221112922955 0.998110556461478 NA NA 0.870438954769276 0.74273264896529 NA NA 0.129561045230724 0.253488463957665 NA 0.806585801867283 NA 0.191524754594195 NA FALSE NA 0.993 4.27 . missense_variant MODERATE IFT43 HGNC 29669 ENST00000314067 8/9 rs369282525 1 tolerated(0.16) benign(0.031) NA A:0 A:0.0001 CGG G,A 3.295e-05 14:76083285 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003562064 missense_variant 3.154534 0.98356 0.9508 0.706298 0.99863534350978 0 4.37841580307519e-07 FALSE 2.84474e-05 ENSE00000808440_035 ENSE00000808440 035 14 76549511 76549680 + 59 63 48 G A 76549657 1194 147 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCAGTCTCTCAGCTCTGGCATTCCCA 76083167 76083337 76083313 76083314 76083314 downstr_intron 25 1.53191489361702 AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCAGTCTCTCAGCTCTGGCATTCCCA AGAGTTGCCTGAAAGCCCTCAAGGTGCTCAGCCTGACCTTTTTTTGTTTGCATTCACAGGATGGGGAGATCGACCTGAAACTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAGGTACAGTGGTGGCAGCAATTCCCCGGTCTCTCAGCTCTGGCATTCCCA mutant NA NA NA NA NA 100 46 1 1 1 NA NA 0.870438954769276 0.74273264896529 NA NA 0.129561045230724 0.25726735103471 NA 0.806585801867283 NA 0.193414198132717 NA FALSE NA 0 -6.803 . intron_variant MODIFIER IFT43 HGNC 29669 ENST00000314067 8/8 rs572918662 1 NA CGG G,A 2.471e-05 14:76083314 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003562064 intron_variant 0.098997 0.12456 0.0051 0.162113 0.657991973705485 0.0503274 4.37841580307519e-07 FALSE 2.03399e-05 ENSE00000808502_000 ENSE00000808502 000 14 78288730 78288899 + 48 84 38 NA NA NA NA NA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 NA NA NA NA NA NA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA natural NA NA NA NA NA 738 575 1 0.994805916219485 0.997402958109743 NA NA 1 0.994805916219485 NA NA 0 0 NA 0.997402958109743 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADCK1 NA NA NA ENSG00000063761 ENSE00000808502 NA NA NA NA NA NA NA 4.22838319274286e-09 FALSE NA ENSE00000808502_003 ENSE00000808502 003 14 78288730 78288899 + 48 84 38 G T 78288744 1270 15 TACTTAATGTCCAGTTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822400 77822401 77822401 upstr_intron -34 -0.6875 TACTTAATGTCCAGTTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 11 206 1 1 1 NA NA 1 0.994805916219485 NA NA 0 0.00519408378051489 NA 0.997402958109743 NA 0.00259704189025745 NA FALSE NA 0.003 0.905 NA NA NA ADCK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:77822401 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 intron_variant 0.110915 0.24955 0.14618 0.099367 0.439341663014407 0.0569627 4.22838319274286e-09 FALSE 4.07744e-06 ENSE00000808502_004 ENSE00000808502 004 14 78288730 78288899 + 48 84 38 C A 78288752 1271 23 TACTTAATGTCCAGGTGCTAAGATTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822408 77822409 77822409 upstr_intron -26 -0.520833333333333 TACTTAATGTCCAGGTGCTAAGATTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 53 916 1 0.99920083850131 0.999600419250655 NA NA 1 0.994805916219485 NA NA 0 0.00439492228182481 NA 0.997402958109743 NA 0.0021974611409124 NA FALSE NA 0.001 -0.088 . intron_variant&NMD_transcript_variant MODIFIER ADCK1 HGNC 19038 ENST00000393639 2/8 1 NA GCT C,A 6.589e-05 14:77822409 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 intron_variant 0.700752 0.22791 0.03022 0.156188 0.575048868307808 0.0430157 4.22838319274286e-09 FALSE 8.14498e-05 ENSE00000808502_006 ENSE00000808502 006 14 78288730 78288899 + 48 84 38 C T 78288779 1273 50 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGATGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822435 77822436 77822436 exon 2 0.0238095238095238 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGATGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant 33 41 1 0.993186951969513 0.996593475984757 243 192 1 1 1 NA NA 1 0.994805916219485 NA NA 0 0.00519408378051489 NA 0.997402958109743 NA 0.00259704189025745 NA FALSE NA 0.998 5.024 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE ADCK1 HGNC 19038 ENST00000393639 3/9 rs375498715 1 deleterious(0.01) probably_damaging(1) NA T:0.0005 T:0.0001 ACG C,T 9.06e-05 14:77822436 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 missense_variant 7.178808 0.95029 0.85084 0.706548 0.999099914258136 0 4.22838319274286e-09 FALSE 7.31529e-05 ENSE00000808502_008 ENSE00000808502 008 14 78288730 78288899 + 48 84 38 C T 78288786 1275 57 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTTATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822442 77822443 77822443 exon 9 0.107142857142857 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTTATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 252 265 1 0.998696938994513 0.999348469497257 NA NA 1 0.994805916219485 NA NA 0 0.00389102277502784 NA 0.997402958109743 NA 0.00194551138751392 NA FALSE NA 1 0.588 . synonymous_variant&NMD_transcript_variant LOW ADCK1 HGNC 19038 ENST00000393639 3/9 1 NA TCA C,T 1.647e-05 14:77822443 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 synonymous_variant 1.79167 0.89144 0.46691 0.706548 0.795549784980868 0 4.22838319274286e-09 FALSE 8.12632e-06 ENSE00000808502_011 ENSE00000808502 011 14 78288730 78288899 + 48 84 38 G A 78288796 1278 67 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACAACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822452 77822453 77822453 exon 19 0.226190476190476 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACAACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 731 39 0.99875483118146 1 0.99937741559073 NA NA 1 0.994805916219485 NA NA -0.00124516881853987 0.00519408378051489 NA 0.997402958109743 NA 0.00197445748098751 NA FALSE NA 1 6.312 . missense_variant&NMD_transcript_variant MODERATE ADCK1 HGNC 19038 ENST00000393639 3/9 1 deleterious(0.03) probably_damaging(0.999) NA CGA G,A 3.295e-05 14:77822453 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 missense_variant 6.225138 0.95236 0.88957 0.706548 0.999129949371186 0 4.22838319274286e-09 FALSE 2.03128e-05 ENSE00000808502_014 ENSE00000808502 014 14 78288730 78288899 + 48 84 38 C T 78288809 1281 80 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTTCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822465 77822466 77822466 exon 32 0.380952380952381 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTTCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 1017 513 0.996797979408469 1 0.998398989704235 NA NA 1 0.994805916219485 NA NA -0.00320202059153052 0.00519408378051489 NA 0.997402958109743 NA 0.000996031594492186 NA FALSE NA 1 5.017 . missense_variant&NMD_transcript_variant MODERATE ADCK1 HGNC 19038 ENST00000393639 3/9 1 deleterious(0) possibly_damaging(0.807) NA TCC C,T 8.236e-06 14:77822466 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 missense_variant 6.781754 0.9514 0.85212 0.706548 0.998576049492204 0 4.22838319274286e-09 FALSE 4.06197e-06 ENSE00000808502_015 ENSE00000808502 015 14 78288730 78288899 + 48 84 38 T C 78288812 1282 83 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCCGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822468 77822469 77822469 exon 35 0.416666666666667 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCCGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 118 278 1 0.999862987853346 0.999931493926673 NA NA 1 0.994805916219485 NA NA 0 0.00505707163386115 NA 0.997402958109743 NA 0.00252853581693058 NA FALSE NA 1 5.162 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:77822469 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 missense_variant 6.262506 0.94495 0.8467 0.706548 0.999162991303805 0 4.22838319274286e-09 FALSE 0.000584924 ENSE00000808502_018 ENSE00000808502 018 14 78288730 78288899 + 48 84 38 G A 78288820 1285 91 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTATCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822476 77822477 77822477 exon -42 0.511904761904762 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTATCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 247 94 1 1 1 NA NA 1 0.994805916219485 NA NA 0 0.00519408378051489 NA 0.997402958109743 NA 0.00259704189025745 NA FALSE NA 1 2.728 NA NA NA ADCK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:77822477 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 missense_variant 2.693739 0.93204 0.71981 0.706548 0.992827209560402 0 4.22838319274286e-09 FALSE 1.62477e-05 ENSE00000808502_022 ENSE00000808502 022 14 78288730 78288899 + 48 84 38 A T 78288860 1289 131 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTATGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822516 77822517 77822517 exon -2 0.988095238095238 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTATGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 342 848 1 0.997539149629519 0.99876957481476 NA NA 1 0.994805916219485 NA NA 0 0.00273323341003417 NA 0.997402958109743 NA 0.00136661670501709 NA FALSE NA 1 5.982 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE ADCK1 HGNC 19038 ENST00000393639 3/9 rs369693118 1 deleterious(0.01) possibly_damaging(0.769) NA T:0.0009 T:0 AAG A,T 0.0001071 14:77822517 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 missense_variant 4.464066 0.91286 0.86258 0.719381 0.990377136216897 0 4.22838319274286e-09 FALSE 7.7178e-05 ENSE00000808502_023 ENSE00000808502 023 14 78288730 78288899 + 48 84 38 A G 78288868 1290 139 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTGACCCATGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822524 77822525 77822525 downstr_intron 7 1.18918918918919 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTGACCCATGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 70 27 1 1 1 NA NA 1 0.994805916219485 NA NA 0 0.00519408378051489 NA 0.997402958109743 NA 0.00259704189025745 NA FALSE NA 0.012 0.005 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ADCK1 HGNC 19038 ENST00000393639 3/8 1 NA TAA A,G 1.647e-05 14:77822525 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 splice_region_variant 0.216069 0.19649 0.02304 0.091178 0.679316781828977 0.0672066 4.22838319274286e-09 FALSE 2.03107e-05 ENSE00000808502_024 ENSE00000808502 024 14 78288730 78288899 + 48 84 38 A G 78288873 1291 144 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCGTGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822529 77822530 77822530 downstr_intron 12 1.32432432432432 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCGTGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 119 45 0.995415655866892 1 0.997707827933446 NA NA 1 0.994805916219485 NA NA -0.00458434413310838 0.00519408378051489 NA 0.997402958109743 NA 0.000304869823703258 NA FALSE NA 0 -1.041 . intron_variant&NMD_transcript_variant MODIFIER ADCK1 HGNC 19038 ENST00000393639 3/8 1 NA CAT A,G 8.236e-06 14:77822530 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 intron_variant 0.429691 0.17552 0.02442 0.091178 0.699002096841758 0.0585998 4.22838319274286e-09 FALSE 8.12493e-06 ENSE00000808502_025 ENSE00000808502 025 14 78288730 78288899 + 48 84 38 T C 78288874 1292 145 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCACGGGACCCATCTGAGCCAGGCCAGGA 77822386 77822556 77822530 77822531 77822531 downstr_intron 13 1.35135135135135 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCACGGGACCCATCTGAGCCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 122 35 0.998301071727282 1 0.999150535863641 NA NA 1 0.994805916219485 NA NA -0.00169892827271845 0.00519408378051489 NA 0.997402958109743 NA 0.00174757775389822 NA FALSE NA 0.002 -0.069 . intron_variant&NMD_transcript_variant MODIFIER ADCK1 HGNC 19038 ENST00000393639 3/8 rs199984289 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATG T,C 1.647e-05 14:77822531 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 intron_variant 0.141454 0.19211 0.06631 0.091178 0.744479400724575 0.0585998 4.22838319274286e-09 FALSE 1.21872e-05 ENSE00000808502_026 ENSE00000808502 026 14 78288730 78288899 + 48 84 38 C T 78288889 1293 160 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGTCAGGCCAGGA 77822386 77822556 77822545 77822546 77822546 downstr_intron 28 1.75675675675676 TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGTCAGGCCAGGA TACTTAATGTCCAGGTGCTAAGCTTTTCTCCACTGCCTTGGTTCACAGACGGCTGTCATCAGTTACGACTACCTCACTTCCCTGAAGAGTGTCCCTTATGGCTCAGAGGAGTACTTGCAGCTGAGATCTAAGGTAAGTAACCCATGGGACCCATCTGAGCCAGGCCAGGA mutant NA NA NA NA NA 55 341 1 1 1 NA NA 1 0.994805916219485 NA NA 0 0.00519408378051489 NA 0.997402958109743 NA 0.00259704189025745 NA FALSE NA 0.001 0.149 . intron_variant&NMD_transcript_variant MODIFIER ADCK1 HGNC 19038 ENST00000393639 3/8 1 NA GCC C,T 1.647e-05 14:77822546 ADCK1 HGNC Symbol protein_coding 134929 ENSG00000063761 ENSE00000808502 intron_variant 0.253698 0.23535 0.08433 0.091178 0.550836801485152 0.0686668 4.22838319274286e-09 FALSE 1.21986e-05 ENSE00000808615_000 ENSE00000808615 000 14 90725441 90725610 + 63 54 53 NA NA NA NA NA AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 NA NA NA NA NA NA AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG natural NA NA NA NA NA 4690 2229 0.991177469104214 0.961724021428689 0.976450745266452 NA NA 0.991177469104214 0.961724021428689 NA NA 0 0 NA 0.976450745266452 NA 0 NA FALSE NA NA NA NA NA NA PSMC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMC1 NA NA NA ENSG00000100764 ENSE00003498838 NA NA NA NA NA NA NA 0.995728890599096 TRUE NA ENSE00000808615_002 ENSE00000808615 002 14 90725441 90725610 + 63 54 53 T C 90725458 1359 18 AAGTTATTCTTTTGAAGCGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 90259113 90259114 90259114 upstr_intron -46 -0.714285714285714 AAGTTATTCTTTTGAAGCGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 587 318 0.998802029610206 0.999880235040926 0.999341132325566 NA NA 0.991177469104214 0.961724021428689 NA NA 0.00762456050599192 0.0381562136122372 NA 0.976450745266452 NA 0.0228903870591146 NA FALSE NA 0.023 1.033 rs79460083 intron_variant&non_coding_transcript_variant MODIFIER PSMC1 HGNC 9547 ENST00000555679 1/4 rs79460083 1 C:0.0060 C:0.0227 C:0 NA C:0 C:0 C:0 C:0.0191 C:0.0001 GTG T,C 0.001631 14:90259114 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 intron_variant 0.763453 0.29373 0.07154 0.073086 0.861375914049897 0.131867 0.995728890599096 TRUE 0.00131527 ENSE00000808615_003 ENSE00000808615 003 14 90725441 90725610 + 63 54 53 A G 90725463 1360 23 AAGTTATTCTTTTGAAGTGATCGTATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 90259118 90259119 90259119 upstr_intron -41 -0.634920634920635 AAGTTATTCTTTTGAAGTGATCGTATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 546 306 0.999773663203952 0.999482811123896 0.999628237163924 NA NA 0.991177469104214 0.961724021428689 NA NA 0.00859619409973722 0.0377587896952072 NA 0.976450745266452 NA 0.0231774918974722 NA FALSE NA 0 -0.393 . intron_variant&non_coding_transcript_variant MODIFIER PSMC1 HGNC 9547 ENST00000555679 1/4 1 NA CAT A,G 8.236e-06 14:90259119 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 intron_variant 0.608464 0.17177 0.01346 0 0.806624085710199 0.198815 0.995728890599096 TRUE 4.08373e-06 ENSE00000808615_004 ENSE00000808615 004 14 90725441 90725610 + 63 54 53 T C 90725469 1361 29 AAGTTATTCTTTTGAAGTGATCATATTCCGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 90259124 90259125 90259125 upstr_intron -35 -0.53968253968254 AAGTTATTCTTTTGAAGTGATCATATTCCGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 290 598 0.999471168458869 0.989271136561905 0.994371152510387 NA NA 0.991177469104214 0.961724021428689 NA NA 0.0082936993546544 0.0275471151332157 NA 0.976450745266452 NA 0.0179204072439351 NA FALSE NA 0.542 1.383 rs138525581 intron_variant&non_coding_transcript_variant MODIFIER PSMC1 HGNC 9547 ENST00000555679 1/4 rs138525581 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTG T,C 1.647e-05 14:90259125 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 intron_variant 0.943723 0.25603 0.27183 0 0.880677676773106 0.131867 0.995728890599096 TRUE 8.15248e-06 ENSE00000808615_005 ENSE00000808615 005 14 90725441 90725610 + 63 54 53 T G 90725493 1362 53 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTGTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 90259148 90259149 90259149 upstr_intron -11 -0.158730158730159 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTGTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 376 776 0.988514512021309 0.99945157231292 0.993983042167114 NA NA 0.991177469104214 0.961724021428689 NA NA -0.00266295708290576 0.0377275508842307 NA 0.976450745266452 NA 0.0175322969006625 NA FALSE NA 0 0.571 . intron_variant&non_coding_transcript_variant MODIFIER PSMC1 HGNC 9547 ENST00000555679 1/4 1 NA TTT T,G 8.236e-06 14:90259149 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 intron_variant 0.581886 0.39177 0.15643 0 0.774318364901334 0.150978 0.995728890599096 TRUE 4.06812e-06 ENSE00000808615_006 ENSE00000808615 006 14 90725441 90725610 + 63 54 53 C G 90725495 1363 55 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTGTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 90259150 90259151 90259151 upstr_intron -9 -0.126984126984127 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTGTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 259 934 1 0.998353319626655 0.999176659813328 NA NA 0.991177469104214 0.961724021428689 NA NA 0.00882253089578566 0.0366292981979662 NA 0.976450745266452 NA 0.0227259145468759 NA FALSE NA 0.003 0.888 . intron_variant&non_coding_transcript_variant MODIFIER PSMC1 HGNC 9547 ENST00000555679 1/4 1 NA TCT C,G 8.236e-06 14:90259151 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 intron_variant -0.053395 0.33035 0.0435 0 0.559580150701807 0.146001 0.995728890599096 TRUE 4.07193e-06 ENSE00000808615_008 ENSE00000808615 008 14 90725441 90725610 + 63 54 53 T C 90725551 1365 111 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGACGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 90259206 90259207 90259207 exon -7 0.888888888888889 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGACGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 757 499 1 1 1 NA NA 0.991177469104214 0.961724021428689 NA NA 0.00882253089578566 0.038275978571311 NA 0.976450745266452 NA 0.0235492547335484 NA FALSE NA 1 1.763 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSMC1 HGNC 9547 ENST00000555679 2/5 1 NA ATG T,C 8.236e-06 14:90259207 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 synonymous_variant 0.333672 0.97739 0.94783 0 0.716323085124657 0 0.995728890599096 TRUE 4.0627e-06 ENSE00000808615_009 ENSE00000808615 009 14 90725441 90725610 + 63 54 53 T A 90725573 1366 133 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATATGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 90259228 90259229 90259229 downstr_intron 16 1.30769230769231 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATATGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 154 121 1 1 1 NA NA 0.991177469104214 0.961724021428689 NA NA 0.00882253089578566 0.038275978571311 NA 0.976450745266452 NA 0.0235492547335484 NA FALSE NA 0 -2.56 . intron_variant&non_coding_transcript_variant MODIFIER PSMC1 HGNC 9547 ENST00000555679 2/4 rs367925983 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 TTT T,A 5.765e-05 14:90259229 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 intron_variant -0.019495 0.091 0.00794 0.084033 0.581987893058233 0.0780436 0.995728890599096 TRUE 4.47256e-05 ENSE00000808615_010 ENSE00000808615 010 14 90725441 90725610 + 63 54 53 G A 90725582 1367 142 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTAATATGAGCAAATTGTGGAAAATGTCATG 90259096 90259266 90259237 90259238 90259238 downstr_intron 25 1.48076923076923 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTAATATGAGCAAATTGTGGAAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 1123 383 0.999853324302603 0.999586845880846 0.999720085091724 NA NA 0.991177469104214 0.961724021428689 NA NA 0.00867585519838843 0.0378628244521571 NA 0.976450745266452 NA 0.0232693398252727 NA FALSE NA 0 -0.471 . intron_variant&non_coding_transcript_variant MODIFIER PSMC1 HGNC 9547 ENST00000555679 2/4 1 NA TGA G,A 1.647e-05 14:90259238 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 intron_variant 0.3035 0.20617 0.03398 0.084033 0.673490565680924 0.0779958 0.995728890599096 TRUE 8.16713e-06 ENSE00000808615_011 ENSE00000808615 011 14 90725441 90725610 + 63 54 53 A C 90725600 1368 160 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGCAAATGTCATG 90259096 90259266 90259255 90259256 90259256 downstr_intron 43 1.82692307692308 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGCAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 2802 823 0.980886972011876 0.999615475000684 0.99025122350628 NA NA 0.991177469104214 0.961724021428689 NA NA -0.0102904970923379 0.0378914535719949 NA 0.976450745266452 NA 0.0138004782398285 NA FALSE NA 0 -0.967 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:90259256 PSMC1 HGNC Symbol protein_coding 18934 ENSG00000100764 ENSE00003498838 intron_variant -0.135295 0.24337 0.056 0.084033 0.556712862498788 0.0517817 0.995728890599096 TRUE 1.23636e-05 ENSE00000808615_012 ENSE00000808615 012 14 90725441 90725610 + 63 54 53 A T 90725600 1369 160 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGTAAATGTCATG 90259096 90259266 90259255 90259256 90259256 downstr_intron 43 1.82692307692308 AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGTAAATGTCATG AAGTTATTCTTTTGAAGTGATCATATTCTGAATTTACATCTGTGCCTGATTTTTCTCCTCCAGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGTAAATATGCCAGATTTGTCCTGTGATATGAGCAAATTGTGGAAAATGTCATG mutant NA NA NA NA NA 1191 1571 0.998224316576934 1 0.999112158288467 NA NA 0.991177469104214 0.961724021428689 NA NA 0.00704684747271977 0.038275978571311 NA 0.976450745266452 NA 0.0226614130220154 NA FALSE NA 0 -0.967 NA NA NA PSMC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMC1 NA NA NA ENSG00000100764 ENSE00003498838 intron_variant -0.07177 0.24121 0.05341 0.084033 0.607823152575525 0.0517817 0.995728890599096 TRUE 4.1212e-06 ENSE00000808618_000 ENSE00000808618 000 14 90745362 90745531 - 44 72 54 NA NA NA NA NA CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 NA NA NA NA NA NA CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC natural NA NA NA NA NA 2222 1152 0.844946165943402 0.996322221014799 0.920634193479101 NA NA 0.844946165943402 0.996322221014799 NA NA 0 0 NA 0.920634193479101 NA 0 NA FALSE NA NA NA NA NA NA NRDE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NRDE2 NA NA NA ENSG00000119720 ENSE00003483654 NA NA NA NA NA NA NA 6.49344106983731e-10 FALSE NA ENSE00000808618_002 ENSE00000808618 002 14 90745362 90745531 - 44 72 54 T C 90745422 1371 110 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAGTTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279077 90279078 90279078 exon -17 0.777777777777778 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAGTTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 127 26 0.855808652772428 1 0.927904326386214 NA NA 0.844946165943402 0.996322221014799 NA NA 0.010862486829026 0.00367777898520105 NA 0.920634193479101 NA 0.00727013290711354 NA FALSE NA 1 1.428 rs3737035 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NRDE2 HGNC 20186 ENST00000553409 11/12 rs3737035 1 C:0.3243 C:0.0825 C:0.3012 NA C:0.5099 C:0.3946 C:0.4039 C:0.1443 C:0.3991 ATT T,C 0.369 14:90279078 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 missense_variant -1.474214 0.29067 0.63883 0.615465 0.300296573876933 0 6.49344106983731e-10 FALSE 0.369802 ENSE00000808618_005 ENSE00000808618 005 14 90745362 90745531 - 44 72 54 C T 90745446 1374 86 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGATGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279101 90279102 90279102 exon 32 0.444444444444444 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGATGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 962 361 0.995955765676902 0.994093172921152 0.995024469299027 NA NA 0.844946165943402 0.996322221014799 NA NA 0.151009599733499 -0.00222904809364721 NA 0.920634193479101 NA 0.0743902758199261 NA FALSE NA 1 4.271 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NRDE2 HGNC 20186 ENST00000553409 11/12 1 NA ACC C,T 8.236e-06 14:90279102 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 missense_variant 6.823285 0.95703 0.95091 0.615465 0.998247570321294 0 6.49344106983731e-10 FALSE 1.6246e-05 ENSE00000808618_006 ENSE00000808618 006 14 90745362 90745531 - 44 72 54 T C 90745449 1375 83 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAGAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279104 90279105 90279105 exon 29 0.402777777777778 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAGAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 70 18 0.998818218615157 1 0.999409109307578 NA NA 0.844946165943402 0.996322221014799 NA NA 0.153872052671754 0.00367777898520105 NA 0.920634193479101 NA 0.0787749158284776 NA FALSE NA 1 1.071 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NRDE2 HGNC 20186 ENST00000553409 11/12 1 NA TTT T,C 8.236e-06 14:90279105 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 missense_variant 2.656575 0.93732 0.8536 0.615465 0.998170331690576 0 6.49344106983731e-10 FALSE 8.12255e-06 ENSE00000808618_007 ENSE00000808618 007 14 90745362 90745531 - 44 72 54 G A 90745451 1376 81 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGTAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279106 90279107 90279107 exon 27 0.375 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGTAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 735 18 1 1 1 NA NA 0.844946165943402 0.996322221014799 NA NA 0.155053834056598 0.00367777898520105 NA 0.920634193479101 NA 0.0793658065208993 NA FALSE NA 1 2.921 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NRDE2 HGNC 20186 ENST00000553409 11/12 1 NA TGC G,A 2.471e-05 14:90279107 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 synonymous_variant 1.109672 0.92501 0.7937 0.615465 0.689803146818291 0 6.49344106983731e-10 FALSE 1.21839e-05 ENSE00000808618_009 ENSE00000808618 009 14 90745362 90745531 - 44 72 54 G A 90745473 1378 59 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTTCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279128 90279129 90279129 exon 5 0.0694444444444444 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTTCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 1109 2097 0.998054218762165 0.994326186774701 0.996190202768433 NA NA 0.844946165943402 0.996322221014799 NA NA 0.153108052818763 -0.00199603424009764 NA 0.920634193479101 NA 0.0755560092893327 NA FALSE NA 1 8.801 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NRDE2 HGNC 20186 ENST00000553409 11/12 COSM3815481 1 NA GGA G,A 8.236e-05 14:90279129 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 missense_variant 6.626572 0.97876 0.9901 0.615465 0.998010817273208 0 6.49344106983731e-10 FALSE 6.90501e-05 ENSE00000808618_010 ENSE00000808618 010 14 90745362 90745531 - 44 72 54 G C 90745482 1379 50 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACGTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279137 90279138 90279138 upstr_intron -5 -0.0740740740740741 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACGTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 153 123 1 1 1 NA NA 0.844946165943402 0.996322221014799 NA NA 0.155053834056598 0.00367777898520105 NA 0.920634193479101 NA 0.0793658065208993 NA FALSE NA 0.143 0.375 . splice_region_variant&intron_variant&NMD_transcript_variant LOW NRDE2 HGNC 20186 ENST00000553409 10/11 1 NA AGG G,C 8.236e-06 14:90279138 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 splice_region_variant -0.082075 0.27416 0.32504 0.115753 0.516989015687065 0.14003 6.49344106983731e-10 FALSE 4.06227e-06 ENSE00000808618_011 ENSE00000808618 011 14 90745362 90745531 - 44 72 54 G A 90745490 1380 42 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCTCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279145 90279146 90279146 upstr_intron -13 -0.222222222222222 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCTCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 195 52 1 1 1 NA NA 0.844946165943402 0.996322221014799 NA NA 0.155053834056598 0.00367777898520105 NA 0.920634193479101 NA 0.0793658065208993 NA FALSE NA 0 -1.287 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:90279146 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 non_coding_transcript_exon_variant 0.8096 0.39395 0.08509 0.115753 0.698747662364566 0.120974 6.49344106983731e-10 FALSE 2.84534e-05 ENSE00000808618_012 ENSE00000808618 012 14 90745362 90745531 - 44 72 54 G T 90745490 1381 42 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCACCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279145 90279146 90279146 upstr_intron -13 -0.222222222222222 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCACCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 98 879 1 0.824231752341721 0.912115876170861 NA NA 0.844946165943402 0.996322221014799 NA NA 0.155053834056598 -0.172090468673078 NA 0.920634193479101 NA -0.00851831730824015 NA FALSE NA 0 -1.287 NA NA NA NRDE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NRDE2 NA NA NA ENSG00000119720 ENSE00003483654 non_coding_transcript_exon_variant 0.604491 0.45758 0.23143 0.115753 0.712536091546898 0.120974 6.49344106983731e-10 FALSE 4.06478e-06 ENSE00000808618_013 ENSE00000808618 013 14 90745362 90745531 - 44 72 54 T C 90745498 1382 34 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTGTTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279153 90279154 90279154 upstr_intron -21 -0.37037037037037 CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTGTTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 1357 1686 0.999605084291024 0.991508743986407 0.995556914138715 NA NA 0.844946165943402 0.996322221014799 NA NA 0.154658918347621 -0.00481347702839219 NA 0.920634193479101 NA 0.0749227206596145 NA FALSE NA 0 -2.193 . intron_variant&NMD_transcript_variant MODIFIER NRDE2 HGNC 20186 ENST00000553409 10/11 1 NA ATA T,C 8.236e-06 14:90279154 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 non_coding_transcript_exon_variant 0.428122 0.11914 0.06591 0.099367 0.587140497370816 0.0476178 6.49344106983731e-10 FALSE 8.1355e-06 ENSE00000808618_016 ENSE00000808618 016 14 90745362 90745531 - 44 72 54 G T 90745507 1385 25 CTTAGCCTCTCTGTGTCAACTAATAATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279162 90279163 90279163 upstr_intron -30 -0.537037037037037 CTTAGCCTCTCTGTGTCAACTAATAATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 30 898 1 1 1 NA NA 0.844946165943402 0.996322221014799 NA NA 0.155053834056598 0.00367777898520105 NA 0.920634193479101 NA 0.0793658065208993 NA FALSE NA 0.001 0.209 . intron_variant&NMD_transcript_variant MODIFIER NRDE2 HGNC 20186 ENST00000553409 10/11 rs368444773 1 NA T:0.0002 T:0 TGA G,T 1.647e-05 14:90279163 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 non_coding_transcript_exon_variant 0.00978 0.23981 0.12583 0.099367 0.569853301594631 0.0476178 6.49344106983731e-10 FALSE 8.15122e-06 ENSE00000808618_017 ENSE00000808618 017 14 90745362 90745531 - 44 72 54 G C 90745512 1386 20 CTTAGCCTCTCTGTGTCAAGTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279167 90279168 90279168 upstr_intron -35 -0.62962962962963 CTTAGCCTCTCTGTGTCAAGTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 231 68 0.958750847716401 1 0.9793754238582 NA NA 0.844946165943402 0.996322221014799 NA NA 0.113804681772998 0.00367777898520105 NA 0.920634193479101 NA 0.0587412303790996 NA FALSE NA 0 -1.391 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:90279168 NRDE2 HGNC Symbol protein_coding 64281 ENSG00000119720 ENSE00003483654 non_coding_transcript_exon_variant -0.706569 0.14633 0.06903 0.099367 0.407423440083061 0.0476178 6.49344106983731e-10 FALSE 2.44978e-05 ENSE00000808618_018 ENSE00000808618 018 14 90745362 90745531 - 44 72 54 G A 90745512 1387 20 CTTAGCCTCTCTGTGTCAATTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC 90279017 90279187 90279167 90279168 90279168 upstr_intron -35 -0.62962962962963 CTTAGCCTCTCTGTGTCAATTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC CTTAGCCTCTCTGTGTCAACTAATCATGTTTGTATTTTCTCCCCCTCACCTCAGGTTTCCTTAGGAAATAAAGAAAGAAGCAAAGGTGTATTCTACAAAGCACTTCAGAATTGCCCTTGGGCAAAGGTAAGTGTTAAAGGCCATGGTGTCTTCAGCTTCCCGAAAACTTC mutant NA NA NA NA NA 262 1087 0.998099718644483 0.999578760596647 0.998839239620565 NA NA 0.844946165943402 0.996322221014799 NA NA 0.153153552701081 0.00325653958184824 NA 0.920634193479101 NA 0.0782050461414645 NA FALSE NA 0 -1.391 NA NA NA NRDE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NRDE2 NA NA NA ENSG00000119720 ENSE00003483654 non_coding_transcript_exon_variant -0.328061 0.12105 0.01111 0.099367 0.493889173712261 0.0476178 6.49344106983731e-10 FALSE 4.08297e-06 ENSE00000808725_000 ENSE00000808725 000 14 94503684 94503853 + 42 96 32 NA NA NA NA NA TCGGATGCTCTTCTCCCTGCCCTCTGCCTCACCTCGATTTTCCTCCGGTAAATCCTGTTTTCAGGATGGTCCCGAAGAATGGATAGAATGTCACATTTTTCTGATATTAGGTTGAAAGATGTTTCACTCTGAAAGATAGGGAAGGAAGAAATGCTGTGACAATTTCAAAA 94037337 94037507 NA NA NA NA NA NA TTTTGAAATTGTCACAGCATTTCTTCCTTCCCTATCTTTCAGAGTGAAACATCTTTCAACCTAATATCAGAAAAATGTGACATTCTATCCATTCTTCGGGACCATCCTGAAAACAGGATTTACCGGAGGAAAATCGAGGTGAGGCAGAGGGCAGGGAGAAGAGCATCCGA TTTTGAAATTGTCACAGCATTTCTTCCTTCCCTATCTTTCAGAGTGAAACATCTTTCAACCTAATATCAGAAAAATGTGACATTCTATCCATTCTTCGGGACCATCCTGAAAACAGGATTTACCGGAGGAAAATCGAGGTGAGGCAGAGGGCAGGGAGAAGAGCATCCGA natural NA NA NA NA NA 188 129 1 0.9941903626599 0.99709518132995 NA NA 1 0.9941903626599 NA NA 0 0 NA 0.99709518132995 NA 0 NA FALSE NA NA NA NA NA NA OTUB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OTUB2 NA NA NA ENSG00000089723 ENSE00000808725 NA NA NA NA NA NA NA 9.30774599769382e-06 FALSE NA ENSE00000808725_017 ENSE00000808725 017 14 94503684 94503853 + 42 96 32 C T 94503818 1476 135 TCGGATGCTCTTCTCCCTGCCCTCTGCCTCACCTCAATTTTCCTCCGGTAAATCCTGTTTTCAGGATGGTCCCGAAGAATGGATAGAATGTCACATTTTTCTGATATTAGGTTGAAAGATGTTTCACTCTGAAAGATAGGGAAGGAAGAAATGCTGTGACAATTTCAAAA 94037337 94037507 94037471 94037472 94037472 exon -4 0.96875 TTTTGAAATTGTCACAGCATTTCTTCCTTCCCTATCTTTCAGAGTGAAACATCTTTCAACCTAATATCAGAAAAATGTGACATTCTATCCATTCTTCGGGACCATCCTGAAAACAGGATTTACCGGAGGAAAATTGAGGTGAGGCAGAGGGCAGGGAGAAGAGCATCCGA TTTTGAAATTGTCACAGCATTTCTTCCTTCCCTATCTTTCAGAGTGAAACATCTTTCAACCTAATATCAGAAAAATGTGACATTCTATCCATTCTTCGGGACCATCCTGAAAACAGGATTTACCGGAGGAAAATCGAGGTGAGGCAGAGGGCAGGGAGAAGAGCATCCGA mutant NA NA NA NA NA 100 28 1 1 1 NA NA 1 0.9941903626599 NA NA 0 0.00580963734009965 NA 0.99709518132995 NA 0.00290481867004982 NA FALSE NA 1 0.498 . synonymous_variant LOW OTUB2 HGNC 20351 ENST00000203664 2/6 1 NA TCG C,T 1.647e-05 14:94037472 OTUB2 HGNC Symbol protein_coding 22601 ENSG00000089723 ENSE00000808725 synonymous_variant 2.497373 0.96787 0.42974 0.6512 0.807922154491398 0 9.30774599769382e-06 FALSE 4.0873e-05 ENSE00000811044_000 ENSE00000811044 000 10 98095600 98095769 + 48 84 38 NA NA NA NA NA AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 NA NA NA NA NA NA AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC natural NA NA NA NA NA 1058 1437 0.992295989022673 0.998487011998453 0.995391500510563 NA NA 0.992295989022673 0.998487011998453 NA NA 0 0 NA 0.995391500510563 NA 0 NA FALSE NA NA NA NA NA NA DNTT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNTT NA NA NA ENSG00000107447 ENSE00000811044 NA NA NA NA NA NA NA 8.53802251177926e-05 FALSE NA ENSE00000811044_001 ENSE00000811044 001 10 98095600 98095769 + 48 84 38 C T 98095612 2012 13 AGACATTCTAGATGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335854 96335855 96335855 upstr_intron -36 -0.729166666666667 AGACATTCTAGATGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 113 20 1 1 1 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 0.00151298800154731 NA 0.995391500510563 NA 0.00460849948943715 NA FALSE NA 0.001 0.64 rs76113338 intron_variant MODIFIER DNTT HGNC 2983 ENST00000419175 9/10 rs76113338 1 T:0.0060 T:0.0219 T:0.0014 NA T:0 T:0 T:0 T:0.0188 T:0.0001 ACG C,T 0.001936 10:96335855 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 intron_variant 0.219532 0.26404 0.05601 0.053691 0.557447267591016 0.143809 8.53802251177926e-05 FALSE 0.00155432 ENSE00000811044_002 ENSE00000811044 002 10 98095600 98095769 + 48 84 38 G A 98095613 2013 14 AGACATTCTAGACATGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335855 96335856 96335856 upstr_intron -35 -0.708333333333333 AGACATTCTAGACATGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 1390 357 0.999108395553681 0.991789492611218 0.99544894408245 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00681240653100801 -0.0066975193872344 NA 0.995391500510563 NA 5.7443571886806e-05 NA FALSE NA 0 -2.584 rs183742428 intron_variant MODIFIER DNTT HGNC 2983 ENST00000419175 9/10 rs183742428 1 A:0.0004 A:0.0008 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0002 CGT G,A 0.0003624 10:96335856 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 intron_variant -0.201563 0.14357 0.01612 0.053691 0.640340753520533 0.0945736 8.53802251177926e-05 FALSE 0.000317403 ENSE00000811044_004 ENSE00000811044 004 10 98095600 98095769 + 48 84 38 T A 98095636 2015 37 GAGGATCAAAGTAGCCCCTTTTAGGAAGAGAACTGTACCTTGGTCTTGTCATATAAAGCATGGTTATCCAGAATCATCTTCCGCTCATGTGTGGCATAGCGCCGGAGGTCTCTCTCAAACTGCTGGATAGGAGTTAGTTAAAATAAATTATTAACACGTCTAGAATGTCT 96335842 96336012 96335878 96335879 96335879 upstr_intron -12 -0.229166666666667 AGACATTCTAGACGTGTTAATAATTTATTTTAACTAACTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 1804 718 0.931443956554205 0.966408954201352 0.948926455377778 NA NA 0.992295989022673 0.998487011998453 NA NA -0.0608520324684685 -0.032078057797101 NA 0.995391500510563 NA -0.0464650451327848 NA FALSE NA 0.007 1.103 . intron_variant MODIFIER DNTT HGNC 2983 ENST00000419175 9/10 1 NA ATC T,A 8.236e-06 10:96335879 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 intron_variant 0.057045 0.31251 0.37172 0.053691 0.398222020690922 0.205947 8.53802251177926e-05 FALSE 4.06564e-06 ENSE00000811044_006 ENSE00000811044 006 10 98095600 98095769 + 48 84 38 G A 98095650 2017 51 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAATTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335892 96335893 96335893 exon 3 0.0357142857142857 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAATTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 870 199 0.998587883494289 0.999204431936001 0.998896157715145 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00629189447161593 0.000717419937547814 NA 0.995391500510563 NA 0.00350465720458187 NA FALSE NA 1 0.959 . splice_acceptor_variant HIGH DNTT HGNC 2983 ENST00000419175 9/10 1 NA HC AGT G,A 8.236e-06 10:96335893 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 splice_acceptor_variant 0.37144 0.89908 0.64948 0.497415 0.633585032778108 0 8.53802251177926e-05 FALSE 4.0656e-06 ENSE00000811044_008 ENSE00000811044 008 10 98095600 98095769 + 48 84 38 C A 98095662 2019 63 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGAACTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335904 96335905 96335905 exon 15 0.178571428571429 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGAACTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 20 95 1 1 1 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 0.00151298800154731 NA 0.995391500510563 NA 0.00460849948943715 NA FALSE NA 0.983 1.111 . missense_variant MODERATE DNTT HGNC 2983 ENST00000419175 10/11 COSM1702846 1 probably_damaging(1) NA ACC C,A 8.236e-06 10:96335905 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 missense_variant 3.82676 0.92802 0.9222 0.497415 0.993462327715125 0 8.53802251177926e-05 FALSE 4.06567e-06 ENSE00000811044_009 ENSE00000811044 009 10 98095600 98095769 + 48 84 38 C T 98095666 2020 67 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCTGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335908 96335909 96335909 exon 19 0.226190476190476 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCTGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 127 1602 1 0.991615416446874 0.995807708223437 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 -0.00687159555157879 NA 0.995391500510563 NA 0.000416207712874095 NA FALSE NA 0.998 1.363 rs188851180 missense_variant MODERATE DNTT HGNC 2983 ENST00000419175 10/11 rs188851180 1 probably_damaging(1) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 4.118e-05 10:96335909 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 missense_variant 8.454137 0.94853 0.90729 0.497415 0.999135203736203 0 8.53802251177926e-05 FALSE 4.87932e-05 ENSE00000811044_010 ENSE00000811044 010 10 98095600 98095769 + 48 84 38 G A 98095667 2021 68 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCAGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335909 96335910 96335910 exon 20 0.238095238095238 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCAGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 440 166 1 0.982452909426946 0.991226454713473 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 -0.0160341025715066 NA 0.995391500510563 NA -0.00416504579708982 NA FALSE NA 1 8.354 rs142141382 missense_variant MODERATE DNTT HGNC 2983 ENST00000419175 10/11 rs142141382 1 probably_damaging(0.999) NA A:0 A:0.0001 CGG G,A 6.589e-05 10:96335910 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 missense_variant 8.053673 0.96732 0.98421 0.497415 0.999513143619486 0 8.53802251177926e-05 FALSE 6.09826e-05 ENSE00000811044_012 ENSE00000811044 012 10 98095600 98095769 + 48 84 38 C T 98095676 2023 77 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGTCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335918 96335919 96335919 exon 29 0.345238095238095 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGTCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 269 300 1 1 1 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 0.00151298800154731 NA 0.995391500510563 NA 0.00460849948943715 NA FALSE NA 1 6.595 . missense_variant MODERATE DNTT HGNC 2983 ENST00000419175 10/11 rs375155834 1 probably_damaging(0.958) NA T:0 T:0.0001 GCC C,T 8.236e-06 10:96335919 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 missense_variant 7.106868 0.96615 0.9784 0.497415 0.999059418798906 0 8.53802251177926e-05 FALSE 1.62635e-05 ENSE00000811044_013 ENSE00000811044 013 10 98095600 98095769 + 48 84 38 C T 98095681 2024 82 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACATATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335923 96335924 96335924 exon 34 0.404761904761905 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACATATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 48 497 1 0.99984670718034 0.99992335359017 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 0.00135969518188717 NA 0.995391500510563 NA 0.00453185307960707 NA FALSE NA 0.796 3.137 rs145922527 missense_variant MODERATE DNTT HGNC 2983 ENST00000419175 10/11 rs145922527 1 probably_damaging(0.915) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0007 T:0.0006 ACA C,T 0.0005518 10:96335924 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 missense_variant 5.642786 0.36284 0.81838 0.497415 0.997729986869975 0 8.53802251177926e-05 FALSE 0.000731779 ENSE00000811044_014 ENSE00000811044 014 10 98095600 98095769 + 48 84 38 C A 98095687 2025 88 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGAGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335929 96335930 96335930 exon 40 0.476190476190476 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGAGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 193 26 1 0.95 0.975 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 -0.0484870119984527 NA 0.995391500510563 NA -0.0203915005105629 NA FALSE NA 1 3.083 NA NA NA DNTT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:96335930 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 synonymous_variant 3.008342 0.97419 0.83078 0.497415 0.654044051117017 0 8.53802251177926e-05 FALSE 8.1316e-06 ENSE00000811044_017 ENSE00000811044 017 10 98095600 98095769 + 48 84 38 A G 98095693 2028 94 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGGTGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335935 96335936 96335936 exon -39 0.547619047619048 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGGTGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 870 12 0.998859169577629 1 0.999429584788814 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00656318055495586 0.00151298800154731 NA 0.995391500510563 NA 0.00403808427825159 NA FALSE NA 1 7.904 . missense_variant MODERATE DNTT HGNC 2983 ENST00000419175 10/11 1 probably_damaging(0.99) NA GAT A,G 8.236e-06 10:96335936 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 missense_variant 5.214264 0.98934 0.99078 0.497415 0.995485475386443 0 8.53802251177926e-05 FALSE 4.06524e-06 ENSE00000811044_018 ENSE00000811044 018 10 98095600 98095769 + 48 84 38 A T 98095696 2029 97 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGTTTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC 96335842 96336012 96335938 96335939 96335939 exon -36 0.583333333333333 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGTTTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 15 130 1 1 1 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 0.00151298800154731 NA 0.995391500510563 NA 0.00460849948943715 NA FALSE NA 1 3.738 . missense_variant MODERATE DNTT HGNC 2983 ENST00000419175 10/11 rs200644125 1 benign(0.185) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GAT A,T 4.118e-05 10:96335939 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 missense_variant 2.613625 0.97753 0.90614 0.497415 0.964926830804581 0 8.53802251177926e-05 FALSE 5.69194e-05 ENSE00000811044_025 ENSE00000811044 025 10 98095600 98095769 + 48 84 38 G A 98095755 2036 156 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGACTACTTTGATCCTC 96335842 96336012 96335997 96335998 96335998 downstr_intron 24 1.64864864864865 AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGACTACTTTGATCCTC AGACATTCTAGACGTGTTAATAATTTATTTTAACTATCTCCTATCCAGCAGTTTGAGAGAGACCTCCGGCGCTATGCCACACATGAGCGGAAGATGATTCTGGATAACCATGCTTTATATGACAAGACCAAGGTACAGTTCTCTTCCTAAAAGGGGCTACTTTGATCCTC mutant NA NA NA NA NA 50 284 1 1 1 NA NA 0.992295989022673 0.998487011998453 NA NA 0.00770401097732698 0.00151298800154731 NA 0.995391500510563 NA 0.00460849948943715 NA FALSE NA 0 0.087 . intron_variant MODIFIER DNTT HGNC 2983 ENST00000419175 10/10 1 NA GGC G,A 4.118e-05 10:96335998 DNTT HGNC Symbol protein_coding 34168 ENSG00000107447 ENSE00000811044 intron_variant 0.571402 0.22808 0.08807 0.053691 0.734839363848344 0.146017 8.53802251177926e-05 FALSE 2.44131e-05 ENSE00000811580_000 ENSE00000811580 000 10 104386876 104387045 + 56 69 45 NA NA NA NA NA TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 NA NA NA NA NA NA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA natural 31 30 0.992767564193925 0.99443654321559 0.993602053704757 1418 1213 0.985957529862666 0.96555387454883 0.975755702205748 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 0 0 0 0 0.993602053704757 0.975755702205748 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUFU NA NA NA ENSG00000107882 ENSE00000811580 NA NA NA NA NA NA NA 0.99916148458521 TRUE NA ENSE00000811580_001 ENSE00000811580 001 10 104386876 104387045 + 56 69 45 C A 104386890 2424 15 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATTTATGATCTTTTTGC 102627118 102627288 102627132 102627133 102627133 upstr_intron -42 -0.732142857142857 GCAAAAAGATCATAAATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 136 291 1 1 1 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0344461254511703 0.993602053704757 0.975755702205748 NA 0.0242442977942521 NA FALSE NA 0.001 0.184 NA NA NA SUFU NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:102627133 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 intron_variant 0.138277 0.16324 0.04954 0.078448 0.576345085627528 0.0673787 0.99916148458521 TRUE 8.13121e-06 ENSE00000811580_004 ENSE00000811580 004 10 104386876 104387045 + 56 69 45 A G 104386898 2427 23 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATCTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627140 102627141 102627141 upstr_intron -34 -0.589285714285714 GCAAAAAGATCATACATTTAAAGATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 1059 56 0.999220184577492 1 0.999610092288746 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0132626547148257 0.0344461254511703 0.993602053704757 0.975755702205748 NA 0.023854390082998 NA FALSE NA 0.009 2.301 . intron_variant MODIFIER SUFU HGNC 16466 ENST00000369902 10/11 1 NA AAA A,G 1.647e-05 10:102627141 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 intron_variant 0.215327 0.2542 0.22091 0.078448 0.550117223381195 0.0978582 0.99916148458521 TRUE 8.12678e-06 ENSE00000811580_005 ENSE00000811580 005 10 104386876 104387045 + 56 69 45 C T 104386912 2428 37 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGACTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627154 102627155 102627155 upstr_intron -20 -0.339285714285714 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGTCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 251 49 1 0.999219529023228 0.999609764511614 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0336656544743978 0.993602053704757 0.975755702205748 NA 0.0238540623058658 NA FALSE NA 0.092 0.031 . intron_variant MODIFIER SUFU HGNC 16466 ENST00000369902 10/11 1 NA GCC C,T 8.236e-06 10:102627155 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 intron_variant 1.107364 0.19069 0.10794 0.078448 0.702391362200176 0.293276 0.99916148458521 TRUE 4.06111e-06 ENSE00000811580_007 ENSE00000811580 007 10 104386876 104387045 + 56 69 45 C T 104386917 2430 42 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAAGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627159 102627160 102627160 upstr_intron -15 -0.25 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCTTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 163 17 1 1 1 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0344461254511703 0.993602053704757 0.975755702205748 NA 0.0242442977942521 NA FALSE NA 0.599 0.1 . intron_variant MODIFIER SUFU HGNC 16466 ENST00000369902 10/11 1 NA CCT C,T 8.236e-06 10:102627160 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 intron_variant 1.045072 0.1632 0.29354 0.078448 0.73269690429037 0.36272 0.99916148458521 TRUE 4.06085e-06 ENSE00000811580_012 ENSE00000811580 012 10 104386876 104387045 + 56 69 45 G A 104386937 2435 62 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAATAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627179 102627180 102627180 exon 6 0.0869565217391304 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTATTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 84 240 1 0.999340460075328 0.999670230037664 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0337865855264984 0.993602053704757 0.975755702205748 NA 0.0239145278319161 NA FALSE NA 1 1.188 . synonymous_variant LOW SUFU HGNC 16466 ENST00000369902 11/12 1 NA TGT G,A 8.236e-06 10:102627180 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 synonymous_variant 0.826676 0.87962 0.58953 0.50712 0.610766803001842 0 0.99916148458521 TRUE 4.06058e-06 ENSE00000811580_014 ENSE00000811580 014 10 104386876 104387045 + 56 69 45 G A 104386944 2437 69 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTTGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627186 102627187 102627187 exon 13 0.188405797101449 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCAAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant 78 79 0.85 0.85 0.85 637 923 0.665712214788412 0.807753630977082 0.736732922882747 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 -0.142767564193925 -0.14443654321559 -0.320245315074254 -0.157800243571747 0.993602053704757 0.975755702205748 -0.143602053704757 -0.239022779323001 0.0954207256182434 FALSE FALSE 1 8.97 . missense_variant MODERATE SUFU HGNC 16466 ENST00000369902 11/12 COSM426992 1 tolerated(0.11) benign(0.054) NA CGA G,A 8.236e-06 10:102627187 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 missense_variant 3.875835 0.95593 0.93053 0.50712 0.992498825070454 0 0.99916148458521 TRUE 2.03032e-05 ENSE00000811580_015 ENSE00000811580 015 10 104386876 104387045 + 56 69 45 T C 104386952 2438 77 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACGAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627194 102627195 102627195 exon 21 0.304347826086957 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTCGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 266 35 1 1 1 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0344461254511703 0.993602053704757 0.975755702205748 NA 0.0242442977942521 NA FALSE NA 1 1.269 . synonymous_variant LOW SUFU HGNC 16466 ENST00000369902 11/12 1 NA TTG T,C 8.236e-06 10:102627195 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 synonymous_variant 0.180895 0.92507 0.65961 0.50712 0.802384693638853 0 0.99916148458521 TRUE 1.21818e-05 ENSE00000811580_016 ENSE00000811580 016 10 104386876 104387045 + 56 69 45 A G 104386960 2439 85 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTCTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627202 102627203 102627203 exon 29 0.420289855072464 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAGAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 49 398 1 0.996880252964101 0.998440126482051 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0313263784152717 0.993602053704757 0.975755702205748 NA 0.0226844242763028 NA FALSE NA 1 4.375 . missense_variant MODERATE SUFU HGNC 16466 ENST00000369902 11/12 1 tolerated(0.69) benign(0.002) NA AAA A,G 1.647e-05 10:102627203 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 missense_variant 1.479494 0.91165 0.66489 0.50712 0.118407926309871 0 0.99916148458521 TRUE 8.12117e-06 ENSE00000811580_018 ENSE00000811580 018 10 104386876 104387045 + 56 69 45 G A 104386968 2441 93 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTTCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627210 102627211 102627211 exon -33 0.536231884057971 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGAAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 108 157 1 1 1 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0344461254511703 0.993602053704757 0.975755702205748 NA 0.0242442977942521 NA FALSE NA 1 8.97 . missense_variant MODERATE SUFU HGNC 16466 ENST00000369902 11/12 rs556707582 1 tolerated(0.51) benign(0.013) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGA G,A 1.647e-05 10:102627211 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 missense_variant 2.776864 0.95706 0.93118 0.50712 0.994896436432016 0 0.99916148458521 TRUE 2.03029e-05 ENSE00000811580_019 ENSE00000811580 019 10 104386876 104387045 + 56 69 45 G A 104386997 2442 122 TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCTTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627239 102627240 102627240 exon -4 0.956521739130435 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAAGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 2880 37 1 1 1 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0344461254511703 0.993602053704757 0.975755702205748 NA 0.0242442977942521 NA FALSE NA 1 1.766 . synonymous_variant LOW SUFU HGNC 16466 ENST00000369902 11/12 1 NA AGG G,A 8.236e-06 10:102627240 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 synonymous_variant 1.159068 0.88565 0.62033 0.50712 0.651117607616927 0 0.99916148458521 TRUE 1.21817e-05 ENSE00000811580_020 ENSE00000811580 020 10 104386876 104387045 + 56 69 45 T C 104387019 2443 144 TCCCAGAGACGGGACCTGTTGTCAGGGAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627261 102627262 102627262 downstr_intron 19 1.43181818181818 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTCCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 267 227 0.831992500797944 1 0.915996250398972 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA -0.153965029064722 0.0344461254511703 0.993602053704757 0.975755702205748 NA -0.0597594518067757 NA FALSE NA 0.017 0.221 rs12414407 intron_variant MODIFIER SUFU HGNC 16466 ENST00000369902 11/11 rs12414407 1 T:0.2804 C:0.7761 C:0.6311 NA C:0.75 C:0.6899 C:0.7055 C:0.7379 C:0.6521 TTC C,C 0.663 10:102627262 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 intron_variant 0.157999 0.31679 0.00611 0.078448 0.595256725451042 0.0526402 0.99916148458521 TRUE 0.658001 ENSE00000811580_021 ENSE00000811580 021 10 104386876 104387045 + 56 69 45 A G 104387027 2444 152 TCCCAGAGACGGGACCTGCTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627269 102627270 102627270 downstr_intron 27 1.61363636363636 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAGCAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 325 948 1 0.997595753467357 0.998797876733678 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.0140424701373338 0.0320418789185274 0.993602053704757 0.975755702205748 NA 0.0230421745279306 NA FALSE NA 0.001 0.862 rs113970488 intron_variant MODIFIER SUFU HGNC 16466 ENST00000369902 11/11 rs113970488 1 NA AAC A,G 8.236e-06 10:102627270 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 intron_variant -0.001431 0.14116 0.00265 0.078448 0.474092098750187 0.0526402 0.99916148458521 TRUE 8.12143e-06 ENSE00000811580_022 ENSE00000811580 022 10 104386876 104387045 + 56 69 45 G T 104387031 2445 156 TCCCAGAGACGGGAACTGTTGTCAGGAAAAGTCAAACAAGCTTACTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATCTGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 102627273 102627274 102627274 downstr_intron 31 1.70454545454545 GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGTTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA mutant NA NA NA NA NA 268 426 0.991896073946807 1 0.995948036973404 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 NA NA 0.00593854408414074 0.0344461254511703 0.993602053704757 0.975755702205748 NA 0.0201923347676555 NA FALSE NA 0.001 0.277 . intron_variant MODIFIER SUFU HGNC 16466 ENST00000369902 11/11 1 NA GGT G,T 1.647e-05 10:102627274 SUFU HGNC Symbol protein_coding 129548 ENSG00000107882 ENSE00000811580 intron_variant -0.182684 0.20771 0.09283 0.078448 0.676870896099022 0.0526402 0.99916148458521 TRUE 3.24873e-05 ENSE00000811580_BRK ENSE00000811580 BRK 10 104386876 104387045 + 56 69 45 A,G; T,T NA NA NA TCCCAGAGACGGGACCTGTTGTCAGGAAAAGTCAAACAAGCTTGGTTCCTCTGGAGAAGTCAAATCTTCTAAATCCTCCAACATTTTCTCTACAAACTCTTCGGTCAACAGAATAAGTGAAGGCACAAGGCAGGCTTTTATTATTATTTTTAAATGTATGATCTTTTTGC 102627118 102627288 NA NA NA NA NA NA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACTTATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAACCAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA GCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGA control 49 25 0 0 0 NA NA NA NA NA 0.992767564193925 0.99443654321559 0.985957529862666 0.96555387454883 -0.992767564193925 -0.99443654321559 NA NA 0.993602053704757 0.975755702205748 -0.993602053704757 NA NA NA TRUE NA NA NA NA NA SUFU NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUFU NA NA NA ENSG00000107882 ENSE00000811580 NA NA NA NA NA NA NA 0.99916148458521 TRUE NA ENSE00000811969_000 ENSE00000811969 000 10 116233597 116233766 - 41 78 51 NA NA NA NA NA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 NA NA NA NA NA NA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA natural 836 1465 0.847372927306784 0.85000386169926 0.848688394503022 4205 3869 0.953138736277061 0.963799322599778 0.958469029438419 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 0 0 0 0 0.848688394503022 0.958469029438419 0 0 0 FALSE FALSE NA NA NA NA NA ABLIM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABLIM1 NA NA NA ENSG00000099204 ENSE00000811969 NA NA NA NA NA NA NA 0.951991965239091 TRUE NA ENSE00000811969_001 ENSE00000811969 001 10 116233597 116233766 - 41 78 51 G A 116233626 2689 141 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTATTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473866 114473867 114473867 downstr_intron 12 1.3 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTATTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 354 721 0.954576366435917 0.97598531288141 0.965280839658663 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA 0.00143763015885645 0.0121859902816316 0.848688394503022 0.958469029438419 NA 0.00681181022024402 NA FALSE NA 0.01 0.648 . intron_variant&NMD_transcript_variant MODIFIER ABLIM1 HGNC 78 ENST00000392955 9/21 1 NA AGT G,A 8.236e-06 10:114473867 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 intron_variant 0.750381 0.26551 0.08308 0.262962 0.761910197684772 0.114845 0.951991965239091 TRUE 4.10132e-06 ENSE00000811969_002 ENSE00000811969 002 10 116233597 116233766 - 41 78 51 G C 116233629 2690 138 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATGTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473869 114473870 114473870 downstr_intron 9 1.225 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATGTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 887 362 0.810592952185055 0.906987343615808 0.858790147900432 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA -0.142545784092005 -0.0568119789839698 0.848688394503022 0.958469029438419 NA -0.0996788815379876 NA FALSE NA 0.239 0.798 rs150657352 intron_variant&NMD_transcript_variant MODIFIER ABLIM1 HGNC 78 ENST00000392955 9/21 rs150657352 1 C:0.0010 C:0 C:0.0014 NA C:0 C:0.004 C:0 C:0.0007 C:0.0008 AGA G,C 0.0002636 10:114473870 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 intron_variant 1.291012 0.43782 0.18871 0.262962 0.740435825528713 0.336485 0.951991965239091 TRUE 0.000373171 ENSE00000811969_003 ENSE00000811969 003 10 116233597 116233766 - 41 78 51 T C 116233667 2691 100 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTGTTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473907 114473908 114473908 exon -30 0.628205128205128 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTGTTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 176 246 0.997638001695989 0.95281492422887 0.97522646296243 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA 0.0444992654189287 -0.0109843983709077 0.848688394503022 0.958469029438419 NA 0.0167574335240105 NA FALSE NA 1 4.738 . missense_variant&NMD_transcript_variant MODERATE ABLIM1 HGNC 78 ENST00000392955 9/22 1 tolerated(0.26) benign(0.03) NA ATA T,C 2.471e-05 10:114473908 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 missense_variant 1.698939 0.95373 0.84783 0.732398 0.993550489576038 0 0.951991965239091 TRUE 2.03178e-05 ENSE00000811969_004 ENSE00000811969 004 10 116233597 116233766 - 41 78 51 T C 116233670 2692 97 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCGGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473910 114473911 114473911 exon -33 0.58974358974359 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCGGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 66 1888 0.999374789825117 0.990937030379763 0.99515591010244 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA 0.0462360535480568 0.027137707779985 0.848688394503022 0.958469029438419 NA 0.0366868806640209 NA FALSE NA 1 7.94 . missense_variant&NMD_transcript_variant MODERATE ABLIM1 HGNC 78 ENST00000392955 9/22 1 deleterious(0) possibly_damaging(0.81) NA CTG T,C 8.236e-06 10:114473911 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 missense_variant 6.093505 0.9755 0.93329 0.732398 0.998422760765707 0 0.951991965239091 TRUE 1.21904e-05 ENSE00000811969_005 ENSE00000811969 005 10 116233597 116233766 - 41 78 51 C G 116233675 2693 92 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGCCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473915 114473916 114473916 exon -38 0.525641025641026 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGCCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 42 64 1 1 1 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA 0.0468612637229394 0.036200677400222 0.848688394503022 0.958469029438419 NA 0.0415309705615807 NA FALSE NA 1 7.721 . missense_variant&NMD_transcript_variant MODERATE ABLIM1 HGNC 78 ENST00000392955 9/22 1 tolerated(0.53) possibly_damaging(0.675) NA GCC C,G 7.413e-05 10:114473916 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 missense_variant 2.878398 0.98081 0.9473 0.732398 0.996745282187143 0 0.951991965239091 TRUE 8.12744e-05 ENSE00000811969_006 ENSE00000811969 006 10 116233597 116233766 - 41 78 51 T C 116233677 2694 90 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCGGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473917 114473918 114473918 exon 39 0.5 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCGGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 703 446 1 0.99801296052132 0.99900648026066 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA 0.0468612637229394 0.034213637921542 0.848688394503022 0.958469029438419 NA 0.0405374508222407 NA FALSE NA 0.98 0.287 . synonymous_variant&NMD_transcript_variant LOW ABLIM1 HGNC 78 ENST00000392955 9/22 1 NA CTG T,C 8.236e-06 10:114473918 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 synonymous_variant 0.63031 0.92552 0.61096 0.732398 0.734787265965162 0 0.951991965239091 TRUE 4.06362e-06 ENSE00000811969_007 ENSE00000811969 007 10 116233597 116233766 - 41 78 51 G C 116233678 2695 89 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCGAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473918 114473919 114473919 exon 38 0.487179487179487 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCGAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant 57 126 0.910338087715385 0.878774526731728 0.894556307223557 982 728 0.996222260068714 0.98235779776462 0.989290028916667 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 0.0629651604086016 0.0287706650324685 0.0430835237916535 0.0185584751648421 0.848688394503022 0.958469029438419 0.045867912720535 0.0308209994782478 0.0150469132422872 FALSE FALSE 1 9.741 . missense_variant&NMD_transcript_variant MODERATE ABLIM1 HGNC 78 ENST00000392955 9/22 rs372492992 1 deleterious(0) probably_damaging(0.984) NA C:0 C:0.0001 TGG G,C 6.589e-05 10:114473919 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 missense_variant 6.347096 0.98123 0.96176 0.732398 0.998531117563099 0 0.951991965239091 TRUE 4.47013e-05 ENSE00000811969_008 ENSE00000811969 008 10 116233597 116233766 - 41 78 51 T C 116233696 2696 71 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGGAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473936 114473937 114473937 exon 20 0.256410256410256 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGGAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 830 363 0.994535597927578 0.99499574262244 0.994765670275009 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA 0.0413968616505169 0.0311964200226619 0.848688394503022 0.958469029438419 NA 0.0362966408365894 NA FALSE NA 1 7.94 . missense_variant&NMD_transcript_variant MODERATE ABLIM1 HGNC 78 ENST00000392955 9/22 1 deleterious(0) probably_damaging(0.955) NA TTC T,C 8.236e-06 10:114473937 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 missense_variant 4.652339 0.96181 0.91441 0.732398 0.999059736361288 0 0.951991965239091 TRUE NA ENSE00000811969_009 ENSE00000811969 009 10 116233597 116233766 - 41 78 51 G A 116233699 2697 68 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTTGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473939 114473940 114473940 exon 17 0.217948717948718 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTTGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 5949 332 0.920921575936653 0.919181686254246 0.920051631095449 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA -0.0322171603404074 -0.0446176363455323 0.848688394503022 0.958469029438419 NA -0.0384173983429699 NA FALSE NA 1 7.761 rs188544535 missense_variant&NMD_transcript_variant MODERATE ABLIM1 HGNC 78 ENST00000392955 9/22 rs188544535&COSM329105&COSM329106 1 deleterious(0) probably_damaging(0.969) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 1.647e-05 10:114473940 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 missense_variant 7.206599 0.96729 0.91477 0.732398 0.999100780896345 0 0.951991965239091 TRUE 2.0329e-05 ENSE00000811969_010 ENSE00000811969 010 10 116233597 116233766 - 41 78 51 G T 116233702 2698 65 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATACTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473942 114473943 114473943 exon 14 0.179487179487179 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATACTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 344 50 0.795983864076358 0.8 0.797991932038179 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA -0.157154872200703 -0.163799322599778 0.848688394503022 0.958469029438419 NA -0.16047709740024 NA FALSE NA 1 9.741 . missense_variant&NMD_transcript_variant MODERATE ABLIM1 HGNC 78 ENST00000392955 9/22 1 deleterious(0) probably_damaging(0.995) NA GGA G,T 8.236e-06 10:114473943 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 missense_variant 6.470075 0.98029 0.95904 0.732398 0.995161652617061 0 0.951991965239091 TRUE 4.06603e-06 ENSE00000811969_011 ENSE00000811969 011 10 116233597 116233766 - 41 78 51 C T 116233716 2699 51 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAACCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473956 114473957 114473957 upstr_intron -1 0 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAACCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 397 168 0.00123357188454046 0 0.000616785942270231 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA -0.95190516439252 -0.963799322599778 0.848688394503022 0.958469029438419 NA -0.957852243496149 NA TRUE NA 1 7.721 . splice_acceptor_variant&NMD_transcript_variant HIGH ABLIM1 HGNC 78 ENST00000392955 8/21 COSM915055&COSM915054&COSM1584799 1 NA GCT C,T 2.471e-05 10:114473957 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 splice_acceptor_variant 5.721836 0.97929 0.93493 0.262962 0.995401753219545 0.984216 0.951991965239091 TRUE 1.22088e-05 ENSE00000811969_012 ENSE00000811969 012 10 116233597 116233766 - 41 78 51 T G 116233719 2700 48 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTCCAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473959 114473960 114473960 upstr_intron -4 -0.0588235294117647 AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTCCAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant 13 18 0.85 0.85 0.85 2935 247 0.839300674756561 0.932411721205964 0.885856197981262 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 0.00262707269321616 -3.86169925958857e-06 -0.113838061520499 -0.031387601393814 0.848688394503022 0.958469029438419 0.00131160549697829 -0.0726128314571567 0.073924436954135 FALSE FALSE 0.183 0.089 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ABLIM1 HGNC 78 ENST00000392955 8/21 1 NA GTA T,G 8.236e-06 10:114473960 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 splice_region_variant 1.081973 0.58328 0.26438 0.163922 0.764325581177287 0.419895 0.951991965239091 TRUE 4.07043e-06 ENSE00000811969_013 ENSE00000811969 013 10 116233597 116233766 - 41 78 51 T C 116233736 2701 31 AGATTCTGAAGCCAGGGTCCGAAGTCTTACGAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473976 114473977 114473977 upstr_intron -21 -0.392156862745098 AGATTCTGAAGCCAGGGTCCGAAGTCTTACGAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant NA NA NA NA NA 1198 1307 0.98203199986441 0.975984991706136 0.979008495785273 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 NA NA 0.0288932635873499 0.0121856691063583 0.848688394503022 0.958469029438419 NA 0.0205394663468541 NA FALSE NA 0.212 0.415 . intron_variant&NMD_transcript_variant MODIFIER ABLIM1 HGNC 78 ENST00000392955 8/21 1 NA TTG T,C 8.236e-06 10:114473977 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 intron_variant 1.245449 0.78528 0.24722 0.106106 0.836870220674888 0.323689 0.951991965239091 TRUE 4.08143e-06 ENSE00000811969_014 ENSE00000811969 014 10 116233597 116233766 - 41 78 51 C T 116233746 2702 21 AGATTCTGAAGCCAGGGTCCAAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473986 114473987 114473987 upstr_intron -31 -0.588235294117647 AGATTCTGAAGCCAGGGTCCAAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant 336 571 0.864964050652448 0.85 0.857482025326224 91 98 0.907304469429119 0.978847817537281 0.9430761434832 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 0.0175911233456644 -3.86169925958857e-06 -0.0458342668479411 0.0150484949375035 0.848688394503022 0.958469029438419 0.00879363082320239 -0.0153928859552188 0.0241865167784212 FALSE FALSE 0.001 0.766 . intron_variant&NMD_transcript_variant MODIFIER ABLIM1 HGNC 78 ENST00000392955 8/21 rs540685519 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCG C,T 2.471e-05 10:114473987 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 intron_variant 0.913387 0.25362 0.08964 0.106106 0.737624387076841 0.0870326 0.951991965239091 TRUE 2.46473e-05 ENSE00000811969_015 ENSE00000811969 015 10 116233597 116233766 - 41 78 51 G A 116233747 2703 20 AGATTCTGAAGCCAGGGTCTGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473987 114473988 114473988 upstr_intron -32 -0.607843137254902 AGATTCTGAAGCCAGGGTCTGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant 38 16 0.85 0.85 0.85 NA NA NA NA NA 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 0.00262707269321616 -3.86169925958857e-06 NA NA 0.848688394503022 0.958469029438419 0.00131160549697829 NA NA NA FALSE 0.002 0.671 . intron_variant&NMD_transcript_variant MODIFIER ABLIM1 HGNC 78 ENST00000392955 8/21 rs377002505 1 NA A:0.0002 A:0 CGG G,A 2.471e-05 10:114473988 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 intron_variant 0.602104 0.1643 0.00294 0.106106 0.782464696987167 0.0870326 0.951991965239091 TRUE 1.64317e-05 ENSE00000811969_016 ENSE00000811969 016 10 116233597 116233766 - 41 78 51 C T 116233756 2704 11 AGATTCTGAAACCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 114473996 114473997 114473997 upstr_intron -41 -0.784313725490196 AGATTCTGAAACCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA mutant 19 31 0.926039872914466 0.85 0.888019936457233 55 598 0.984857891643058 0.842092202894904 0.913475047268981 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 0.0786669456076817 -3.86169925947755e-06 0.0317191553659976 -0.121707119704874 0.848688394503022 0.958469029438419 0.0393315419542111 -0.0449939821694383 0.0843255241236494 FALSE FALSE 0.001 1.069 rs74872819 intron_variant&NMD_transcript_variant MODIFIER ABLIM1 HGNC 78 ENST00000392955 8/21 rs74872819 1 T:0.0300 T:0.1021 T:0.0159 NA T:0 T:0.001 T:0.0031 T:0.096 T:0.002 GCT C,T 0.01 10:114473997 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00000811969 intron_variant 0.944254 0.32363 0.10734 0.106106 0.782144122156154 0.0870326 0.951991965239091 TRUE 0.00807413 ENSE00000811969_BRK ENSE00000811969 BRK 10 116233597 116233766 - 41 78 51 A,G; T,T NA NA NA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACTTCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATCCAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA 114473837 114474007 NA NA NA NA NA NA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACTTCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATCCAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA AGATTCTGAAGCCAGGGTCCGAAGTCTTACAAGTCACTGTTTATTTTACAGCCTACCAGGACATCCTCGGAAAGTATTTATTCTAGGCCAGGCTCCAGTATTCCTGGCTCACCAGGTCATACTATCTATGTAAGTATCTACTTCTGGAAGTGACATTTCTGGGACAGGTA control 27 11 0 0 0 1191 481 0.00260012509899423 0.00066548472741846 0.00163280491320634 0.847372927306784 0.85000386169926 0.953138736277061 0.963799322599778 -0.847372927306784 -0.85000386169926 -0.950538611178066 -0.96313383787236 0.848688394503022 0.958469029438419 -0.848688394503022 -0.956836224525213 0.108147830022191 TRUE TRUE NA NA NA NA NA ABLIM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABLIM1 NA NA NA ENSG00000099204 ENSE00000811969 NA NA NA NA NA NA NA 0.951991965239091 TRUE NA ENSE00000812955_000 ENSE00000812955 000 9 386289 386458 + 42 96 32 NA NA NA NA NA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 NA NA NA NA NA NA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA natural 117 215 0.85 0.903998354612373 0.876999177306186 211 579 0.978261380382063 0.944364897837858 0.96131313910996 0.85 0.903998354612373 0.978261380382063 0.944364897837858 0 0 0 0 0.876999177306186 0.96131313910996 0 0 0 FALSE FALSE NA NA NA NA NA DOCK8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK8 NA NA NA ENSG00000107099 ENSE00003469546 NA NA NA NA NA NA NA 0.00013543398043996 FALSE NA ENSE00000812955_005 ENSE00000812955 005 9 386289 386458 + 42 96 32 C A 386311 33 23 CCATGGTTGGTTGACTGTTAAGACATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386310 386311 386311 upstr_intron -20 -0.452380952380952 CCATGGTTGGTTGACTGTTAAGACATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 107 69 1 1 1 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.0217386196179372 0.0556351021621422 0.876999177306186 0.96131313910996 NA 0.0386868608900397 NA FALSE NA 0 -0.14 . intron_variant MODIFIER DOCK8 HGNC 19191 ENST00000432829 22/47 1 NA GCC C,A 7.413e-05 9:386311 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 intron_variant 0.43766 0.31751 0.17123 0.156188 0.558255604195736 0.0915269 0.00013543398043996 FALSE 3.25124e-05 ENSE00000812955_006 ENSE00000812955 006 9 386289 386458 + 42 96 32 T C 386314 34 26 CCATGGTTGGTTGACTGTTAAGCCACGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386313 386314 386314 upstr_intron -17 -0.380952380952381 CCATGGTTGGTTGACTGTTAAGCCACGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 186 323 0.999556648447453 0.977824037665182 0.988690343056318 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.0212952680653906 0.0334591398273243 0.876999177306186 0.96131313910996 NA 0.0273772039463575 NA FALSE NA 0 0.965 . intron_variant MODIFIER DOCK8 HGNC 19191 ENST00000432829 22/47 1 NA ATG T,C 8.236e-06 9:386314 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 intron_variant 0.098007 0.37524 0.28159 0.156188 0.626966027184396 0.0540496 0.00013543398043996 FALSE 8.12599e-06 ENSE00000812955_009 ENSE00000812955 009 9 386289 386458 + 42 96 32 A C 386329 37 41 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTCGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386328 386329 386329 upstr_intron -2 -0.0238095238095238 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTCGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 31 336 0 0.0293996402323628 0.0146998201161814 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.978261380382063 -0.914965257605495 0.876999177306186 0.96131313910996 NA -0.946613318993779 NA TRUE NA 1 4.612 . splice_acceptor_variant HIGH DOCK8 HGNC 19191 ENST00000432829 22/47 1 NA HC TAG A,C 8.236e-06 9:386329 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 splice_acceptor_variant 3.395437 0.97344 0.96203 0.295142 0.986223736033719 0.955933 0.00013543398043996 FALSE 4.0622e-06 ENSE00000812955_011 ENSE00000812955 011 9 386289 386458 + 42 96 32 C T 386333 39 45 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATTGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386332 386333 386333 exon 3 0.03125 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATTGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 476 777 0.8 0.670311604885905 0.735155802442952 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.178261380382063 -0.274053292951953 0.876999177306186 0.96131313910996 NA -0.226157336667008 NA FALSE NA 0 0.305 . splice_region_variant&synonymous_variant LOW DOCK8 HGNC 19191 ENST00000432829 23/48 rs371502513 1 NA T:0 T:0.0001 TCG C,T 8.236e-06 9:386333 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 splice_region_variant 0.201923 0.26197 0.00859 0.706548 0.433322716337079 0 0.00013543398043996 FALSE 8.12433e-06 ENSE00000812955_012 ENSE00000812955 012 9 386289 386458 + 42 96 32 G A 386334 40 46 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCACCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386333 386334 386334 exon 4 0.0416666666666667 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCACCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 14 46 0.8 0.838036189728485 0.819018094864243 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.178261380382063 -0.106328708109372 0.876999177306186 0.96131313910996 NA -0.142295044245718 NA FALSE NA 0 0.446 rs138628834 missense_variant MODERATE DOCK8 HGNC 19191 ENST00000432829 23/48 rs138628834 1 tolerated(0.43) benign(0.001) NA A:0 A:0.0001 CGC G,A 2.471e-05 9:386334 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 missense_variant 0.099982 0.35507 0.23657 0.706548 0.829163901449172 0 0.00013543398043996 FALSE 1.2187e-05 ENSE00000812955_013 ENSE00000812955 013 9 386289 386458 + 42 96 32 C G 386336 41 48 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCGGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386335 386336 386336 exon 6 0.0625 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCGGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 176 278 1 0.999035940584194 0.999517970292097 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.0217386196179372 0.0546710427463361 0.876999177306186 0.96131313910996 NA 0.0382048311821366 NA FALSE NA 0 -0.818 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:386336 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 synonymous_variant 1.06324 0.53207 0.10409 0.706548 0.434267857964203 0 0.00013543398043996 FALSE 4.06204e-06 ENSE00000812955_014 ENSE00000812955 014 9 386289 386458 + 42 96 32 C T 386336 42 48 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCTGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386335 386336 386336 exon 6 0.0625 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCTGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 32 232 0.8 0.800622429857386 0.800311214928693 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.178261380382063 -0.143742467980472 0.876999177306186 0.96131313910996 NA -0.161001924181267 NA FALSE NA 0 -0.818 NA NA NA DOCK8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK8 NA NA NA ENSG00000107099 ENSE00003469546 synonymous_variant 1.686032 0.45935 0.04454 0.706548 0.458579313354485 0 0.00013543398043996 FALSE 8.12407e-06 ENSE00000812955_017 ENSE00000812955 017 9 386289 386458 + 42 96 32 A C 386343 45 55 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCCACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386342 386343 386343 exon 13 0.135416666666667 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCCACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 94 69 0.988031451791402 0.995461954971419 0.99174670338141 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.00977007140933916 0.0510970571335609 0.876999177306186 0.96131313910996 NA 0.0304335642714501 NA FALSE NA 0.09 2.74 . missense_variant MODERATE DOCK8 HGNC 19191 ENST00000432829 23/48 1 deleterious(0.01) benign(0.195) NA CAA A,C 8.236e-06 9:386343 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 missense_variant 2.269575 0.96099 0.74094 0.706548 0.989500346098341 0 0.00013543398043996 FALSE 4.06154e-06 ENSE00000812955_019 ENSE00000812955 019 9 386289 386458 + 42 96 32 A T 386355 47 67 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGATTGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386354 386355 386355 exon 25 0.260416666666667 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGATTGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 239 96 0.964926630440403 0.963446889346124 0.964186759893263 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.0133347499416596 0.0190819915082657 0.876999177306186 0.96131313910996 NA 0.00287362078330305 NA FALSE NA 1 3.187 . missense_variant MODERATE DOCK8 HGNC 19191 ENST00000432829 23/48 1 tolerated(0.29) benign(0.008) NA AAT A,T 8.236e-06 9:386355 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 missense_variant 1.715717 0.96242 0.94918 0.706548 0.941631493359136 0 0.00013543398043996 FALSE 4.06138e-06 ENSE00000812955_020 ENSE00000812955 020 9 386289 386458 + 42 96 32 A G 386365 48 77 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTGTTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386364 386365 386365 exon 35 0.364583333333333 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTGTTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 65 574 0.977044777452535 0.997028353649558 0.987036565551047 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.00121660292952741 0.0526634558117005 0.876999177306186 0.96131313910996 NA 0.0257234264410865 NA FALSE NA 0.999 3.699 . missense_variant MODERATE DOCK8 HGNC 19191 ENST00000432829 23/48 rs369447067 1 deleterious(0.05) benign(0.008) NA G:0 G:0.0001 TAT A,G 2.471e-05 9:386365 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 missense_variant 4.205761 0.96156 0.92841 0.706548 0.995577199353938 0 0.00013543398043996 FALSE 1.21841e-05 ENSE00000812955_021 ENSE00000812955 021 9 386289 386458 + 42 96 32 G A 386374 49 86 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGACAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386373 386374 386374 exon 44 0.458333333333333 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGACAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 87 150 0.929673696415535 0.990880042614103 0.960276869514819 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.0485876839665282 0.0465151447762449 0.876999177306186 0.96131313910996 NA -0.00103626959514169 NA FALSE NA 1 1.136 . missense_variant MODERATE DOCK8 HGNC 19191 ENST00000432829 23/48 1 tolerated(0.07) benign(0.002) NA GGC G,A 1.647e-05 9:386374 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 missense_variant 3.249482 0.94952 0.81266 0.706548 0.994195622162439 0 0.00013543398043996 FALSE 8.12354e-06 ENSE00000812955_023 ENSE00000812955 023 9 386289 386458 + 42 96 32 T A 386378 51 90 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGAAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386377 386378 386378 exon 48 0.5 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGAAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 26 36 1 1 1 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.0217386196179372 0.0556351021621422 0.876999177306186 0.96131313910996 NA 0.0386868608900397 NA FALSE NA 0.001 -0.78 . missense_variant MODERATE DOCK8 HGNC 19191 ENST00000432829 23/48 1 tolerated(0.26) benign(0.082) NA GTA T,A 8.236e-06 9:386378 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 missense_variant 1.72791 0.33342 0.12942 0.706548 0.966560366380781 0 0.00013543398043996 FALSE 4.06157e-06 ENSE00000812955_027 ENSE00000812955 027 9 386289 386458 + 42 96 32 T A 386393 55 105 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGATCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386392 386393 386393 exon -34 0.65625 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGATCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 296 1159 0.990547098962535 0.997881349783842 0.994214224373189 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.0122857185804726 0.0535164519459842 0.876999177306186 0.96131313910996 NA 0.0329010852632284 NA FALSE NA 0 0.186 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:386393 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 missense_variant 1.494902 0.34045 0.26415 0.706548 0.972180895001296 0 0.00013543398043996 FALSE 4.06184e-06 ENSE00000812955_030 ENSE00000812955 030 9 386289 386458 + 42 96 32 C A 386405 58 117 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCACCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386404 386405 386405 exon -22 0.78125 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCACCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 546 42 0.885572623161337 1 0.942786311580669 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.0926887572207256 0.0556351021621422 0.876999177306186 0.96131313910996 NA -0.0185268275292917 NA FALSE NA 0.27 0.256 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:386405 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 synonymous_variant 2.734351 0.9517 0.6056 0.706548 0.67773112772228 0 0.00013543398043996 FALSE 4.06217e-06 ENSE00000812955_031 ENSE00000812955 031 9 386289 386458 + 42 96 32 C T 386405 59 117 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCTCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386404 386405 386405 exon -22 0.78125 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCTCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 404 87 1 0.998177783185233 0.999088891592617 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.0217386196179372 0.0538128853473754 0.876999177306186 0.96131313910996 NA 0.0377757524826563 NA FALSE NA 0.27 0.256 NA NA NA DOCK8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK8 NA NA NA ENSG00000107099 ENSE00003469546 synonymous_variant 2.62877 0.94922 0.5152 0.706548 0.666987501734322 0 0.00013543398043996 FALSE NA ENSE00000812955_032 ENSE00000812955 032 9 386289 386458 + 42 96 32 C A 386406 60 118 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCACAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA 386288 386458 386405 386406 386406 exon -21 0.791666666666667 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCACAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 83 95 1 0.976035701712616 0.988017850856308 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.0217386196179372 0.0316708038747586 0.876999177306186 0.96131313910996 NA 0.0267047117463479 NA FALSE NA 0.735 1.059 . missense_variant MODERATE DOCK8 HGNC 19191 ENST00000432829 23/48 1 tolerated(0.34) benign(0.011) NA CCC C,A 8.236e-06 9:386406 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 missense_variant 2.702387 0.94921 0.7064 0.706548 0.973949725370957 0 0.00013543398043996 FALSE NA ENSE00000812955_038 ENSE00000812955 038 9 386289 386458 + 42 96 32 G A 386439 66 151 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAACAATGTGAGGTTCATCCCA 386288 386458 386438 386439 386439 downstr_intron 13 1.41935483870968 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAACAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 457 107 1 0.935860864965222 0.967930432482611 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA 0.0217386196179372 -0.00850403287263546 0.876999177306186 0.96131313910996 NA 0.00661729337265088 NA FALSE NA 0 0.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:386439 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003469546 intron_variant 0.111437 0.36899 0.0823 0.099367 0.364868928607375 0.053183 0.00013543398043996 FALSE 4.06944e-06 ENSE00000812955_039 ENSE00000812955 039 9 386289 386458 + 42 96 32 G C 386439 67 151 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGACCAATGTGAGGTTCATCCCA 386288 386458 386438 386439 386439 downstr_intron 13 1.41935483870968 CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGACCAATGTGAGGTTCATCCCA CCATGGTTGGTTGACTGTTAAGCCATGGTTTGTGTATTTTAGATCGCCGATCGCAACTGCAGCCGAATGTCTTACTATTGCTCTGGCAGTAGTGATGCTCCAAGTTCACCTGCAGCCCCAAGGCCAGCCAGCAAAAAGGTACTGAAGAGAGCAATGTGAGGTTCATCCCA mutant NA NA NA NA NA 17 109 0.8 0.996794485626377 0.898397242813188 0.85 0.903998354612373 0.978261380382063 0.944364897837858 NA NA -0.178261380382063 0.0524295877885187 0.876999177306186 0.96131313910996 NA -0.062915896296772 NA FALSE NA 0 0.368 NA NA NA DOCK8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK8 NA NA NA ENSG00000107099 ENSE00003469546 intron_variant -0.247572 0.37167 0.15533 0.099367 0.483823997200994 0.053183 0.00013543398043996 FALSE 4.06944e-06 ENSE00000814752_000 ENSE00000814752 000 1 176809268 176809437 + 41 99 30 NA NA NA NA NA CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 NA NA NA NA NA NA ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG natural 64 54 0.999164970287198 0.996487547063257 0.997826258675227 2241 3776 0.964129675754738 0.893025057351094 0.928577366552916 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 0 0 0 0 0.997826258675227 0.928577366552916 0 0 0 FALSE FALSE NA NA NA NA NA PAPPA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA2 NA NA NA ENSG00000116183 ENSE00000814752 NA NA NA NA NA NA NA 0.00125005429153315 FALSE NA ENSE00000814752_001 ENSE00000814752 001 1 176809268 176809437 + 41 99 30 A G 176809278 4334 11 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGCATAGCCTTAT 176840131 176840301 176840141 176840142 176840142 upstr_intron -31 -0.731707317073171 ATAAGGCTATGCTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 428 734 0.998284971320639 1 0.999142485660319 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0341552955659012 0.106974942648906 0.997826258675227 0.928577366552916 NA 0.0705651191074034 NA FALSE NA 0 0.473 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA TAC A,G 8.264e-06 1:176840142 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 intron_variant 0.109103 0.16435 0.03797 0.061011 0.381017547267755 0.0455939 0.00125005429153315 FALSE 4.09152e-06 ENSE00000814752_003 ENSE00000814752 003 1 176809268 176809437 + 41 99 30 T G 176809280 4336 13 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCCGTATAGCCTTAT 176840131 176840301 176840143 176840144 176840144 upstr_intron -29 -0.682926829268293 ATAAGGCTATACGGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 1425 88 0.99692208389531 0.998198539547959 0.997560311721634 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0327924081405722 0.105173482196864 0.997826258675227 0.928577366552916 NA 0.0689829451687182 NA FALSE NA 0 -0.558 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA CTG T,G 8.264e-06 1:176840144 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 intron_variant 0.041747 0.12731 0.02661 0.061011 0.377592948324057 0.0455939 0.00125005429153315 FALSE 4.08954e-06 ENSE00000814752_004 ENSE00000814752 004 1 176809268 176809437 + 41 99 30 C T 176809291 4337 24 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAAGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840154 176840155 176840155 upstr_intron -18 -0.414634146341463 ATAAGGCTATACTGAGATGTTGCTTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 821 1074 0.837208945452152 0.998967809224212 0.918088377338182 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA -0.126920730302586 0.105942751873117 0.997826258675227 0.928577366552916 NA -0.0104889892147341 NA FALSE NA 0.762 2.443 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA CCT C,T 1.653e-05 1:176840155 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 intron_variant -0.029188 0.26767 0.11477 0.061011 0.597558689158095 0.0455939 0.00125005429153315 FALSE 8.16567e-06 ENSE00000814752_005 ENSE00000814752 005 1 176809268 176809437 + 41 99 30 T G 176809292 4338 25 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGACGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840155 176840156 176840156 upstr_intron -17 -0.390243902439024 ATAAGGCTATACTGAGATGTTGCCGTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant 14 16 1 0.999281241680324 0.999640620840162 288 458 1 1 1 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 0.000835029712802249 0.0027936946170668 0.0358703242452622 0.106974942648906 0.997826258675227 0.928577366552916 0.00181436216493452 0.0714226334470838 0.0696082712821493 FALSE FALSE 0.007 -0.1 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA CTT T,G 1.653e-05 1:176840156 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 intron_variant 0.687838 0.26912 0.20704 0.061011 0.711206309405565 0.0455939 0.00125005429153315 FALSE 8.16247e-06 ENSE00000814752_006 ENSE00000814752 006 1 176809268 176809437 + 41 99 30 G T 176809308 4339 41 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGATGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840171 176840172 176840172 upstr_intron -1 0 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACATCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant 10 10 1 1 1 NA NA NA NA NA 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 0.000835029712802249 0.00351245293674285 NA NA 0.997826258675227 0.928577366552916 0.00217374132477255 NA NA NA FALSE 1 8.73 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA AGC G,T 8.267e-06 1:176840172 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 splice_acceptor_variant 5.339929 0.99432 0.98205 0.061011 0.995518842613665 0.985019 0.00125005429153315 FALSE NA ENSE00000814752_007 ENSE00000814752 007 1 176809268 176809437 + 41 99 30 C T 176809311 4340 44 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAAGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840174 176840175 176840175 exon 3 0.0303030303030303 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCTTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant 31 14 0.988025022764119 0.996622185083289 0.992323603923704 186 2030 0.994101508665562 1 0.997050754332781 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 -0.0111399475230788 0.000134638020031441 0.0299718329108246 0.106974942648906 0.997826258675227 0.928577366552916 -0.00550265475152367 0.0684733877798651 0.0739760425313887 FALSE FALSE 1 1.631 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA CCT C,T 8.267e-06 1:176840175 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 splice_region_variant 1.198516 0.96497 0.26818 0.553676 0.79218391655481 0 0.00125005429153315 FALSE NA ENSE00000814752_008 ENSE00000814752 008 1 176809268 176809437 + 41 99 30 A G 176809317 4341 50 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCCTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840180 176840181 176840181 exon 9 0.0909090909090909 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAGGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 271 420 1 1 1 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0358703242452622 0.106974942648906 0.997826258675227 0.928577366552916 NA 0.0714226334470838 NA FALSE NA 1 1.34 rs145132782 downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 rs145132782 1 G:0.0008 G:0 G:0 NA G:0.004 G:0 G:0 AAG A,G 0.0001488 1:176840181 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 synonymous_variant 0.464474 0.97886 0.76256 0.553676 0.656721218071966 0 0.00125005429153315 FALSE 0.000130296 ENSE00000814752_009 ENSE00000814752 009 1 176809268 176809437 + 41 99 30 G A 176809318 4342 51 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGTTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840181 176840182 176840182 exon 10 0.101010101010101 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAACAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 249 48 1 1 1 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0358703242452622 0.106974942648906 0.997826258675227 0.928577366552916 NA 0.0714226334470838 NA FALSE NA 1 8.73 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 rs370289912 1 NA A:0 A:0.0001 AGC G,A 1.654e-05 1:176840182 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 missense_variant 7.283703 0.99419 0.97953 0.553676 0.999053494732763 0 0.00125005429153315 FALSE 1.62909e-05 ENSE00000814752_010 ENSE00000814752 010 1 176809268 176809437 + 41 99 30 A T 176809322 4343 55 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCAACTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840185 176840186 176840186 exon 14 0.141414141414141 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGTTGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant 37 64 0.953748963016 0.986226090250403 0.969987526633202 447 333 0.999075686950571 0.999524771723233 0.999300229336902 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 -0.0454160072711974 -0.0102614568128543 0.034946011195833 0.106499714372138 0.997826258675227 0.928577366552916 -0.0278387320420259 0.0707228627839855 0.0985615948260113 FALSE FALSE 1 8.26 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA GAT A,T 8.268e-06 1:176840186 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 missense_variant 6.563304 0.9923 0.97538 0.553676 0.992896633029098 0 0.00125005429153315 FALSE 4.07222e-06 ENSE00000814752_011 ENSE00000814752 011 1 176809268 176809437 + 41 99 30 A G 176809336 4344 69 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGCGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840199 176840200 176840200 exon 28 0.282828282828283 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACGCTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant 12 15 1 0.978444657801644 0.989222328900822 NA NA NA NA NA 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 0.000835029712802249 -0.0180428892616127 NA NA 0.997826258675227 0.928577366552916 -0.00860392977440522 NA NA NA FALSE 1 8.26 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA CAC A,G 3.308e-05 1:176840200 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 missense_variant 4.024859 0.9923 0.9753 0.553676 0.953933225746895 0 0.00125005429153315 FALSE 1.22151e-05 ENSE00000814752_012 ENSE00000814752 012 1 176809268 176809437 + 41 99 30 A G 176809339 4345 72 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGACAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840202 176840203 176840203 exon 31 0.313131313131313 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTGTCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 508 21 1 0.992393178775936 0.996196589387968 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0358703242452622 0.0993681214248413 0.997826258675227 0.928577366552916 NA 0.0676192228350517 NA FALSE NA 1 8.26 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA TAT A,G 8.27e-06 1:176840203 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 missense_variant 4.620359 0.9923 0.9753 0.553676 0.99725775360271 0 0.00125005429153315 FALSE 1.22138e-05 ENSE00000814752_013 ENSE00000814752 013 1 176809268 176809437 + 41 99 30 C A 176809348 4346 81 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCTGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840211 176840212 176840212 exon 40 0.404040404040404 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACAGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 416 38 0.996076806224503 0.98218432587663 0.989130566050566 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0319471304697649 0.0891592685255354 0.997826258675227 0.928577366552916 NA 0.0605531994976501 NA FALSE NA 1 1.272 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA CCG C,A 8.27e-06 1:176840212 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 synonymous_variant 3.272755 0.98634 0.83732 0.553676 0.759981444113131 0 0.00125005429153315 FALSE 4.07179e-06 ENSE00000814752_015 ENSE00000814752 015 1 176809268 176809437 + 41 99 30 A C 176809364 4348 97 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCAGAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840227 176840228 176840228 exon -44 0.565656565656566 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTCTGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 331 471 0.996209309135711 0.999501895833863 0.997855602484787 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0320796333809734 0.106476838482769 0.997826258675227 0.928577366552916 NA 0.0692782359318712 NA FALSE NA 1 8.26 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 COSM395801 1 NA TAT A,C 8.27e-06 1:176840228 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 missense_variant 6.757482 0.99245 0.97765 0.553676 0.992780657489629 0 0.00125005429153315 FALSE 8.14472e-06 ENSE00000814752_016 ENSE00000814752 016 1 176809268 176809437 + 41 99 30 C T 176809368 4349 101 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCATCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840231 176840232 176840232 exon -40 0.606060606060606 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGATGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 49 336 1 1 1 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0358703242452622 0.106974942648906 0.997826258675227 0.928577366552916 NA 0.0714226334470838 NA FALSE NA 0.545 -0.114 rs12118034 downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 rs12118034 1 T:0.0956 T:0.0045 T:0.0821 NA T:0.002 T:0.2117 T:0.2055 T:0.0354 T:0.1799 ACG C,T 0.155 1:176840232 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 synonymous_variant 2.220113 0.94902 0.21177 0.553676 0.458240630513271 0 0.00125005429153315 FALSE 0.153673 ENSE00000814752_018 ENSE00000814752 018 1 176809268 176809437 + 41 99 30 G A 176809372 4351 105 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCTCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840235 176840236 176840236 exon -36 0.646464646464647 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGAGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 484 305 1 0.989446227737355 0.994723113868677 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0358703242452622 0.0964211703862602 0.997826258675227 0.928577366552916 NA 0.0661457473157612 NA FALSE NA 1 8.73 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 COSM3478935 1 NA GGG G,A 8.27e-06 1:176840236 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 missense_variant 7.207029 0.99419 0.97953 0.553676 0.999435922458808 0 0.00125005429153315 FALSE NA ENSE00000814752_019 ENSE00000814752 019 1 176809268 176809437 + 41 99 30 C T 176809389 4352 122 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTAGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840252 176840253 176840253 exon -19 0.818181818181818 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCTACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant 14 19 0.986703540113477 0.85 0.918351770056738 NA NA NA NA NA 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 -0.012461430173721 -0.146487547063257 NA NA 0.997826258675227 0.928577366552916 -0.0794744886184891 NA NA NA FALSE 1 0.647 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 rs377578582&COSM3478936 1 NA T:0.0003 T:0.0004 CCA C,T 4.136e-05 1:176840253 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 synonymous_variant 1.406579 0.96823 0.65796 0.553676 0.6149014460354 0 0.00125005429153315 FALSE 3.67131e-05 ENSE00000814752_020 ENSE00000814752 020 1 176809268 176809437 + 41 99 30 C A 176809395 4353 128 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTGGAGGATAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840258 176840259 176840259 exon -13 0.878787878787879 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTATCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant 14 12 0.827080611057308 1 0.913540305528654 21 100 1 0.999618522284688 0.999809261142344 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 -0.17208435922989 0.00351245293674285 0.0358703242452622 0.106593464933594 0.997826258675227 0.928577366552916 -0.0842859531465733 0.0712318945894279 0.155517847736001 FALSE FALSE 0.886 -0.224 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 rs370489228 1 NA A:0.0003 A:0 TCT C,A 8.273e-06 1:176840259 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 synonymous_variant 1.650673 0.96529 0.58579 0.553676 0.646523400789068 0 0.00125005429153315 FALSE 1.2244e-05 ENSE00000814752_021 ENSE00000814752 021 1 176809268 176809437 + 41 99 30 C T 176809401 4354 134 CCTCCCCCATCCCCAGGTTCTCTCACTCACCTTCTTAGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840264 176840265 176840265 exon -7 0.939393939393939 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCTAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 43 142 1 1 1 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0358703242452622 0.106974942648906 0.997826258675227 0.928577366552916 NA 0.0714226334470838 NA FALSE NA 1 0.848 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 rs574310172 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCA C,T 1.655e-05 1:176840265 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 synonymous_variant 1.402797 0.97941 0.76205 0.553676 0.658197084301379 0 0.00125005429153315 FALSE 1.22535e-05 ENSE00000814752_022 ENSE00000814752 022 1 176809268 176809437 + 41 99 30 G A 176809407 4355 140 CCTCCCCCATCCCCAGGTTCTCTCACTCACTTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840270 176840271 176840271 exon -1 1 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAAGTGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant 24 27 0.989450500084634 0.955537599183243 0.972494049633938 22 200 1 0.998463048960043 0.999231524480022 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 -0.00971447020256411 -0.040949947880014 0.0358703242452622 0.105437991608949 0.997826258675227 0.928577366552916 -0.0253322090412891 0.0706541579271054 0.0959863669683945 FALSE FALSE 1 6.916 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA AGG G,A 8.273e-06 1:176840271 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 splice_region_variant 1.603243 0.99419 0.96853 0.553676 0.922793998891174 0 0.00125005429153315 FALSE 4.08821e-06 ENSE00000814752_023 ENSE00000814752 023 1 176809268 176809437 + 41 99 30 A G 176809417 4356 150 CCTCCCCCATCCCCAGGTTCCCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840280 176840281 176840281 downstr_intron 10 1.3448275862069 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGGGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 405 545 1 0.845729905787685 0.922864952893843 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0358703242452622 -0.0472951515634094 0.997826258675227 0.928577366552916 NA -0.0057124136590736 NA FALSE NA 0 0.176 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA GAG A,G 8.273e-06 1:176840281 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 intron_variant 0.346339 0.23313 0.01158 0.061011 0.603450851244018 0.168287 0.00125005429153315 FALSE 4.09853e-06 ENSE00000814752_024 ENSE00000814752 024 1 176809268 176809437 + 41 99 30 G A 176809426 4357 159 CCTCCCCCATCTCCAGGTTCTCTCACTCACCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGCTGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 176840289 176840290 176840290 downstr_intron 19 1.6551724137931 ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGAGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG mutant NA NA NA NA NA 1143 1546 0.993478169958999 0.98984477892804 0.99166147444352 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 NA NA 0.0293484942042616 0.0968197215769458 0.997826258675227 0.928577366552916 NA 0.0630841078906037 NA FALSE NA 0 -0.07 . downstream_gene_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 1 NA GGG G,A 8.273e-06 1:176840290 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00000814752 intron_variant -0.09142 0.26597 0.0182 0.061011 0.29443711867701 0.152352 0.00125005429153315 FALSE 4.11272e-06 ENSE00000814752_BRK ENSE00000814752 BRK 1 176809268 176809437 + 41 99 30 A,G; T,T NA NA NA CCTCCCCCATCCCCAGGTTCTCTCACTCGGCTTCTTGGAGGAGAGTGTGGAAGAGCAGCAGTCTCCCCCGTCATAGTGGCAGTAGGCTCGGTTGTTGATAGTGTCACACCAACCATCTGCTTGGAAGGGAAGTAGGGAGGTTAGAAGGCAACATCTCAGTATAGCCTTAT 176840131 176840301 NA NA NA NA NA NA ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACTTCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGCCGAGTGAGAGAACCTGGGGATGGGGGAGG ATAAGGCTATACTGAGATGTTGCCTTCTAACCTCCCTACAGCCCTTCCAAGCAGATGGTTGGTGTGACACTATCAACAACCGAGCCTACTGCCACTATGACGGGGGAGACTGCTGCTCTTCCACACTCTCCTCCAAGAAGGTGAGTGAGAGAACCTGGGGATGGGGGAGG control 470 427 0.85 0.85 0.85 NA NA NA NA NA 0.999164970287198 0.996487547063257 0.964129675754738 0.893025057351094 -0.149164970287198 -0.146487547063257 NA NA 0.997826258675227 0.928577366552916 -0.147826258675227 NA NA NA FALSE NA NA NA NA NA PAPPA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA2 NA NA NA ENSG00000116183 ENSE00000814752 NA NA NA NA NA NA NA 0.00125005429153315 FALSE NA ENSE00000815598_000 ENSE00000815598 000 11 130011340 130011509 + 53 75 42 NA NA NA NA NA AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 NA NA NA NA NA NA AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT natural 468 866 0.860770550040356 0.853509631931688 0.857140090986022 1948 1500 0.927680533230496 0.904933386885037 0.916306960057766 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 0 0 0 0 0.857140090986022 0.916306960057766 0 0 0 FALSE FALSE NA NA NA NA NA APLP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APLP2 NA NA NA ENSG00000084234 ENSE00003667345 NA NA NA NA NA NA NA 0.521618002879557 FALSE NA ENSE00000815598_001 ENSE00000815598 001 11 130011340 130011509 + 53 75 42 C G 130011352 3042 13 AAACTCCCCGTTGACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141456 130141457 130141457 upstr_intron -41 -0.754716981132076 AAACTCCCCGTTGACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 16 34 0.85 0.85 0.85 2022 3102 0.978993171192052 0.981136589808488 0.98006488050027 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0107705500403557 -0.00350963193168785 0.0513126379615563 0.0762032029234507 0.857140090986022 0.916306960057766 -0.00714009098602175 0.0637579204425035 0.0708980114285253 FALSE FALSE 0 -1.167 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA TCA C,G 1.647e-05 11:130141457 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 non_coding_transcript_exon_variant 0.299951 0.21165 0.06866 0.295142 0.625245512660757 0.0666675 0.521618002879557 FALSE 3.26536e-05 ENSE00000815598_002 ENSE00000815598 002 11 130011340 130011509 + 53 75 42 G T 130011358 3043 19 AAACTCCCCGTTCACCCATTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141462 130141463 130141463 upstr_intron -35 -0.641509433962264 AAACTCCCCGTTCACCCATTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 16 28 0.979438400780372 0.954300940457856 0.966869670619114 841 600 0.998473096561418 0.973431049092627 0.985952072827023 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 0.118667850740017 0.100791308526168 0.0707925633309222 0.0684976622075903 0.857140090986022 0.916306960057766 0.109729579633093 0.0696451127692563 0.0400844668638363 FALSE FALSE 0 -0.089 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA AGT G,T 8.236e-06 11:130141463 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 non_coding_transcript_exon_variant 0.100468 0.20989 0.13449 0.295142 0.752698360965256 0.0666675 0.521618002879557 FALSE 8.14425e-06 ENSE00000815598_003 ENSE00000815598 003 11 130011340 130011509 + 53 75 42 G A 130011368 3044 29 AAACTCCCCGTTCACCCAGTTGCTTGCTACCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141472 130141473 130141473 upstr_intron -25 -0.452830188679245 AAACTCCCCGTTCACCCAGTTGCTTGCTACCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 62 240 0.998664855361391 0.986919817880671 0.992792336621031 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA 0.0709843221308947 0.0819864309956341 0.857140090986022 0.916306960057766 NA 0.0764853765632644 NA FALSE NA 0.508 0.578 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA TGC G,A 8.236e-06 11:130141473 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 non_coding_transcript_exon_variant 0.389082 0.25027 0.33024 0.322412 0.51220715059835 0.0666675 0.521618002879557 FALSE NA ENSE00000815598_004 ENSE00000815598 004 11 130011340 130011509 + 53 75 42 C T 130011370 3045 31 AAACTCCCCGTTCACCCAGTTGCTTGCTGCTGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141474 130141475 130141475 upstr_intron -23 -0.415094339622642 AAACTCCCCGTTCACCCAGTTGCTTGCTGCTGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 547 929 0.976237805175873 0.999829723135105 0.988033764155489 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA 0.0485572719453767 0.0948963362500682 0.857140090986022 0.916306960057766 NA 0.0717268040977225 NA FALSE NA 1 2.025 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA CCG C,T 1.647e-05 11:130141475 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 non_coding_transcript_exon_variant 0.140504 0.18376 0.03802 0.322412 0.629516961447926 0.0666675 0.521618002879557 FALSE 2.03441e-05 ENSE00000815598_005 ENSE00000815598 005 11 130011340 130011509 + 53 75 42 G A 130011371 3046 32 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCAACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141475 130141476 130141476 upstr_intron -22 -0.39622641509434 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCAACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 378 907 0.999891077983871 0.998986582906119 0.999438830444995 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA 0.0722105447533752 0.0940531960210819 0.857140090986022 0.916306960057766 NA 0.0831318703872285 NA FALSE NA 1 0.534 rs79537548 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 rs79537548 1 A:0.0066 A:0.0234 A:0.0029 NA A:0 A:0 A:0 A:0.0175 A:0.0001 CGA G,A 0.001894 11:130141476 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 non_coding_transcript_exon_variant 0.195978 0.27493 0.62984 0.322412 0.683537646640054 0.0666675 0.521618002879557 FALSE 0.00145209 ENSE00000815598_006 ENSE00000815598 006 11 130011340 130011509 + 53 75 42 A T 130011372 3047 33 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGTCATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141476 130141477 130141477 upstr_intron -21 -0.377358490566038 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGTCATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 243 223 0.85 0.796005926829695 0.823002963414848 1351 563 0.972897408431165 0.967045598766451 0.969971503598808 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0107705500403555 -0.0575037051019927 0.045216875200669 0.0621122118814141 0.857140090986022 0.916306960057766 -0.0341371275711741 0.0536645435410416 0.0878016711122157 FALSE FALSE 0.949 1.313 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA GAC A,T 8.236e-06 11:130141477 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 non_coding_transcript_exon_variant 0.559885 0.28858 0.3434 0.322412 0.828910302743053 0.0511266 0.521618002879557 FALSE 8.13167e-06 ENSE00000815598_007 ENSE00000815598 007 11 130011340 130011509 + 53 75 42 C T 130011373 3048 34 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGATATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141477 130141478 130141478 upstr_intron -20 -0.358490566037736 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGATATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 156 300 0.839658516590069 0.874909373911018 0.857283945250544 127 805 0.976243714118719 0.81782370476721 0.897033709442964 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0211120334502862 0.0213997419793305 0.0485631808882229 -0.0871096821178271 0.857140090986022 0.916306960057766 0.000143854264522125 -0.0192732506148021 0.0194171048793242 FALSE FALSE 0.006 0.284 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA ACA C,T 8.236e-06 11:130141478 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 non_coding_transcript_exon_variant 0.272704 0.23075 0.08093 0.322412 0.547369453792864 0.0511266 0.521618002879557 FALSE 4.0665e-06 ENSE00000815598_008 ENSE00000815598 008 11 130011340 130011509 + 53 75 42 G A 130011386 3049 47 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTATTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141490 130141491 130141491 upstr_intron -7 -0.113207547169811 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTATTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 186 270 0.995948046873439 0.993394242207664 0.994671144540551 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA 0.0682675136429426 0.0884608553226267 0.857140090986022 0.916306960057766 NA 0.0783641844827846 NA FALSE NA 0.998 2.279 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA TGT G,A 8.236e-06 11:130141491 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 splice_region_variant 1.164505 0.4706 0.68008 0.322412 0.746788641647162 0.239584 0.521618002879557 FALSE 4.06174e-06 ENSE00000815598_009 ENSE00000815598 009 11 130011340 130011509 + 53 75 42 T G 130011389 3050 50 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTGCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141493 130141494 130141494 upstr_intron -4 -0.0566037735849057 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTGCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 348 2158 0.994142350415578 0.990887648433486 0.992514999424532 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA 0.0664618171850822 0.085954261548449 0.857140090986022 0.916306960057766 NA 0.0762080393667656 NA FALSE NA 0.994 -0.177 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA TTC T,G 8.236e-06 11:130141494 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 splice_region_variant 1.213584 0.63507 0.50094 0.322412 0.795059138925749 0.502296 0.521618002879557 FALSE 4.06164e-06 ENSE00000815598_010 ENSE00000815598 010 11 130011340 130011509 + 53 75 42 C A 130011390 3051 51 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTAAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141494 130141495 130141495 upstr_intron -3 -0.0377358490566038 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTAAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 216 129 0 0 0 808 708 0.0130604837592592 0.0226175108990266 0.0178389973291429 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.860770550040356 -0.853509631931688 -0.914620049471237 -0.88231587598601 0.857140090986022 0.916306960057766 -0.857140090986022 -0.898467962728624 0.041327871742602 TRUE TRUE 1 2.368 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 rs577903186 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCA C,A 8.236e-06 11:130141495 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 splice_region_variant 1.974305 0.93945 0.9499 0.322412 0.897299330174043 0.55262 0.521618002879557 FALSE 4.06187e-06 ENSE00000815598_011 ENSE00000815598 011 11 130011340 130011509 + 53 75 42 C T 130011401 3052 62 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGATGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141505 130141506 130141506 exon 9 0.12 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGATGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 14 18 0 0.0366000964662725 0.0183000482331363 227 62 0.801148380034243 0.802330124256173 0.801739252145208 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.860770550040356 -0.816909535465415 -0.126532153196253 -0.102603262628864 0.857140090986022 0.916306960057766 -0.838840042752885 -0.114567707912559 0.724272334840327 FALSE TRUE 0.794 -0.132 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 rs543701438 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACG C,T 2.471e-05 11:130141506 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 synonymous_variant 2.206643 0.72387 0.19303 0.732398 0.547980035088994 0 0.521618002879557 FALSE 1.2184e-05 ENSE00000815598_012 ENSE00000815598 012 11 130011340 130011509 + 53 75 42 G A 130011402 3053 63 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACAAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141506 130141507 130141507 exon 10 0.133333333333333 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACAAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 220 580 0.85 0.85 0.85 609 295 0.996648473065531 0.95652132114118 0.976584897103356 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0107705500403555 -0.00350963193168774 0.0689679398350352 0.0515879342561429 0.857140090986022 0.916306960057766 -0.00714009098602164 0.0602779370455891 0.0674180280316107 FALSE FALSE 1 9.231 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 COSM4019337 1 NA CGA G,A 8.236e-06 11:130141507 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 6.371644 0.97841 0.98684 0.732398 0.998739129249815 0 0.521618002879557 FALSE 8.12222e-06 ENSE00000815598_013 ENSE00000815598 013 11 130011340 130011509 + 53 75 42 A G 130011412 3054 73 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGGTGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141516 130141517 130141517 exon 20 0.266666666666667 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGGTGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 55 138 0 0 0 37 593 0 0.106203322012034 0.0531016610060171 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.860770550040356 -0.853509631931688 -0.927680533230496 -0.798730064873003 0.857140090986022 0.916306960057766 -0.857140090986022 -0.863205299051749 0.00606520806572775 TRUE TRUE 1 8.73 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA GAT A,G 1.647e-05 11:130141517 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 6.015724 0.97416 0.98749 0.732398 0.998185385818656 0 0.521618002879557 FALSE 1.21825e-05 ENSE00000815598_014 ENSE00000815598 014 11 130011340 130011509 + 53 75 42 A G 130011422 3055 83 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAGATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141526 130141527 130141527 exon 30 0.4 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAGATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 38 33 0.999059120369103 0.802092909075644 0.900576014722374 145 837 0.994776591956468 0.99466928134584 0.994722936651154 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 0.138288570328748 -0.0514167228560437 0.0670960587259715 0.0897358944608027 0.857140090986022 0.916306960057766 0.043435923736352 0.0784159765933871 0.034980052857035 FALSE FALSE 0.976 0.311 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 rs200200084 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAA A,G 0.0002306 11:130141527 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 synonymous_variant 0.891166 0.90929 0.76716 0.732398 0.586199928248583 0 0.521618002879557 FALSE 0.000203037 ENSE00000815598_015 ENSE00000815598 015 11 130011340 130011509 + 53 75 42 T C 130011424 3056 85 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAACGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141528 130141529 130141529 exon 32 0.426666666666667 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAACGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 108 1148 0.981250046282891 0.998696557542242 0.989973301912567 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA 0.0535695130523954 0.0937631706572053 0.857140090986022 0.916306960057766 NA 0.0736663418548004 NA FALSE NA 1 5.678 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 rs373613121 1 NA C:0 C:0.0001 ATG T,C 2.471e-05 11:130141529 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 4.953329 0.97196 0.96763 0.732398 0.988051392940535 0 0.521618002879557 FALSE 8.12143e-06 ENSE00000815598_016 ENSE00000815598 016 11 130011340 130011509 + 53 75 42 A T 130011426 3057 87 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGTTTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141530 130141531 130141531 exon 34 0.453333333333333 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGTTTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 280 400 0.848039923888707 0.760592697474038 0.804316310681373 81 296 0.822820734253726 0.946813947163899 0.884817340708813 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0127306261516482 -0.0929169344576498 -0.10485979897677 0.0418805602788622 0.857140090986022 0.916306960057766 -0.052823780304649 -0.0314896193489538 0.0213341609556952 FALSE FALSE 1 3.842 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 rs202175881 1 NA GAT A,T 8.236e-06 11:130141531 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 3.948782 0.94173 0.90612 0.732398 0.974214979480761 0 0.521618002879557 FALSE 8.12156e-06 ENSE00000815598_017 ENSE00000815598 017 11 130011340 130011509 + 53 75 42 T C 130011428 3058 89 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATCTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141532 130141533 130141533 exon 36 0.48 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATCTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 625 190 0.903584208926325 1 0.951792104463162 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA -0.0240963243041714 0.095066613114963 0.857140090986022 0.916306960057766 NA 0.0354851444053958 NA FALSE NA 0.986 0.157 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA TTT T,C 8.236e-06 11:130141533 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 synonymous_variant 1.286325 0.90312 0.77621 0.732398 0.697049883405029 0 0.521618002879557 FALSE 4.06078e-06 ENSE00000815598_018 ENSE00000815598 018 11 130011340 130011509 + 53 75 42 A G 130011433 3059 94 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAGTGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141537 130141538 130141538 exon -35 0.546666666666667 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAGTGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 115 62 0.85 0.899085107078772 0.874542553539386 NA NA NA NA NA 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0107705500403555 0.0455754751470837 NA NA 0.857140090986022 0.916306960057766 0.0174024625533641 NA NA NA FALSE 1 5.738 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 rs572964863 1 NA AAT A,G 1.647e-05 11:130141538 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 3.976519 0.95641 0.93208 0.732398 0.995427664703347 0 0.521618002879557 FALSE 8.12137e-06 ENSE00000815598_019 ENSE00000815598 019 11 130011340 130011509 + 53 75 42 C T 130011436 3060 97 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGTCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141540 130141541 130141541 exon -32 0.586666666666667 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGTCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 272 362 0.831647845022966 0.760198582570446 0.795923213796706 206 938 0.919463364387256 0.810453208588066 0.864958286487661 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0291227050173896 -0.0933110493612418 -0.00821716884323975 -0.0944801782969711 0.857140090986022 0.916306960057766 -0.0612168771893157 -0.0513486735701054 0.00986820361921026 FALSE FALSE 1 5.378 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 COSM1352581 1 NA GCC C,T 8.236e-06 11:130141541 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 4.583205 0.97955 0.98583 0.732398 0.997520767287396 0 0.521618002879557 FALSE 4.06095e-06 ENSE00000815598_020 ENSE00000815598 020 11 130011340 130011509 + 53 75 42 C T 130011437 3061 98 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCTGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141541 130141542 130141542 exon -31 0.6 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCTGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 110 289 0.85 0.85 0.85 774 1167 0.922559064833005 0.889957087554828 0.906258076193917 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0107705500403555 -0.00350963193168785 -0.00512146839749072 -0.0149762993302094 0.857140090986022 0.916306960057766 -0.0071400909860217 -0.0100488838638501 0.00290879287782836 FALSE FALSE 0 -4.85 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA CCG C,T 1.647e-05 11:130141542 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 synonymous_variant 2.853234 0.21996 0.05805 0.732398 0.57445152776302 0 0.521618002879557 FALSE 8.12143e-06 ENSE00000815598_021 ENSE00000815598 021 11 130011340 130011509 + 53 75 42 G A 130011438 3062 99 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCAAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141542 130141543 130141543 exon -30 0.613333333333333 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCAAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 129 233 0.695769887253403 0.85 0.772884943626701 59 86 0.942875631942959 0.948188746274888 0.945532189108923 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.165000662786953 -0.00350963193168796 0.0151950987124632 0.0432553593898508 0.857140090986022 0.916306960057766 -0.0842551473593203 0.029225229051157 0.113480376410477 FALSE FALSE 1 8.95 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA CGA G,A 2.471e-05 11:130141543 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 6.756046 0.98059 0.99322 0.732398 0.999351179452521 0 0.521618002879557 FALSE 2.43645e-05 ENSE00000815598_022 ENSE00000815598 022 11 130011340 130011509 + 53 75 42 G T 130011444 3063 105 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGATTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141548 130141549 130141549 exon -24 0.693333333333333 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGATTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 35 48 0.85 0.85 0.85 NA NA NA NA NA 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0107705500403555 -0.00350963193168785 NA NA 0.857140090986022 0.916306960057766 -0.0071400909860217 NA NA NA FALSE 1 7.125 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA AGT G,T 8.236e-06 11:130141549 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 5.797142 0.98124 0.98802 0.732398 0.994924571979039 0 0.521618002879557 FALSE 4.06072e-06 ENSE00000815598_023 ENSE00000815598 023 11 130011340 130011509 + 53 75 42 G A 130011451 3064 112 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGACCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141555 130141556 130141556 exon -17 0.786666666666667 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGACCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 1016 68 0.997763029530464 0.943429713134002 0.970596371332233 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA 0.0700824962999682 0.0384963262489653 0.857140090986022 0.916306960057766 NA 0.0542894112744667 NA FALSE NA 1 5.187 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA GGC G,A 8.236e-06 11:130141556 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 5.725259 0.96548 0.96801 0.732398 0.998143180839127 0 0.521618002879557 FALSE 4.06081e-06 ENSE00000815598_024 ENSE00000815598 024 11 130011340 130011509 + 53 75 42 C T 130011452 3065 113 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGTCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141556 130141557 130141557 exon -16 0.8 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGTCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 79 70 0.85 0.85 0.85 1626 658 0.79670251591798 0.8 0.79835125795899 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0107705500403555 -0.00350963193168785 -0.130978017312516 -0.104933386885037 0.857140090986022 0.916306960057766 -0.0071400909860217 -0.117955702098776 0.110815611112755 FALSE FALSE 1 0.728 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA GCC C,T 8.236e-06 11:130141557 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 synonymous_variant 2.117292 0.91294 0.89909 0.732398 0.778191287408343 0 0.521618002879557 FALSE 4.06098e-06 ENSE00000815598_025 ENSE00000815598 025 11 130011340 130011509 + 53 75 42 G A 130011466 3066 127 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCAGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141570 130141571 130141571 exon -2 0.986666666666667 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCAGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant NA NA NA NA NA 555 534 0.824838770082019 1 0.91241938504101 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 NA NA -0.102841763148477 0.095066613114963 0.857140090986022 0.916306960057766 NA -0.00388757501675691 NA FALSE NA 1 2.923 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 rs200563658 1 NA CGG G,A 8.236e-06 11:130141571 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 missense_variant 3.542232 0.95507 0.90202 0.732398 0.996039437971528 0 0.521618002879557 FALSE 1.62458e-05 ENSE00000815598_026 ENSE00000815598 026 11 130011340 130011509 + 53 75 42 C T 130011471 3067 132 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTATGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141575 130141576 130141576 downstr_intron 4 1.09756097560976 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTATGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 23 13 0.85 0.85 0.85 137 209 0.96940932069202 0.967406250843851 0.968407785767935 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.0107705500403555 -0.00350963193168796 0.0417287874615239 0.0624728639588136 0.857140090986022 0.916306960057766 -0.00714009098602175 0.0521008257101687 0.0592409166961905 FALSE FALSE 0 -1.305 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA ACG C,T 3.295e-05 11:130141576 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 splice_region_variant 0.493975 0.19082 0.05972 0.115753 0.590759625266067 0.226424 0.521618002879557 FALSE 3.65616e-05 ENSE00000815598_027 ENSE00000815598 027 11 130011340 130011509 + 53 75 42 G A 130011472 3068 133 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACATGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141576 130141577 130141577 downstr_intron 5 1.1219512195122 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACATGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 469 206 0 0 0 NA NA NA NA NA 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.860770550040356 -0.853509631931688 NA NA 0.857140090986022 0.916306960057766 -0.857140090986022 NA NA NA TRUE 1 8.617 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA CGT G,A 8.236e-06 11:130141577 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 splice_region_variant 1.509509 0.9804 0.99274 0.106106 0.784488447929681 0.980807 0.521618002879557 FALSE 1.62495e-05 ENSE00000815598_028 ENSE00000815598 028 11 130011340 130011509 + 53 75 42 T C 130011475 3069 136 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGCTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 130141579 130141580 130141580 downstr_intron 8 1.19512195121951 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGCTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 34 26 0.930447194961132 0.85 0.890223597480566 NA NA NA NA NA 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 0.0696766449207766 -0.00350963193168796 NA NA 0.857140090986022 0.916306960057766 0.0330835064945443 NA NA NA FALSE 0.007 -0.02 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA GTT T,C 1.647e-05 11:130141580 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 splice_region_variant -0.82668 0.21333 0.14737 0.106106 0.33154995997855 0.162293 0.521618002879557 FALSE 1.62508e-05 ENSE00000815598_030 ENSE00000815598 030 11 130011340 130011509 + 53 75 42 G A 130011494 3071 155 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGATTTCCTGCCAATCTT 130141444 130141614 130141598 130141599 130141599 downstr_intron 27 1.65853658536585 AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGATTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT mutant 54 19 0.745442967515515 0.85 0.797721483757758 535 72 0.991715160140455 0.96755330879365 0.979634234467052 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.11532758252484 -0.00350963193168785 0.0640346269099592 0.0626199219086125 0.857140090986022 0.916306960057766 -0.059418607228264 0.0633272744092859 0.12274588163755 FALSE FALSE 0 0.901 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APLP2 HGNC 598 ENST00000525604 1/2 1 NA GGT G,A 8.236e-06 11:130141599 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003667345 non_coding_transcript_exon_variant 0.422259 0.2221 0.20621 0.088506 0.770537924876209 0.0650526 0.521618002879557 FALSE 4.07468e-06 ENSE00000815598_BRK ENSE00000815598 BRK 11 130011340 130011509 + 53 75 42 A,G; T,T NA NA NA AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCTTGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGCCACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT 130141444 130141614 NA NA NA NA NA NA AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCTTGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGCCACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT AAACTCCCCGTTCACCCAGTTGCTTGCTGCCGACATTCTCATGACTGTTTCAGGTCATTGACGAGACTCTGGATGTTAAGGAAATGATTTTCAATGCCGAGAGAGTTGGAGGCCTCGAGGAAGAGCGGGTACGTGTTTAGCTCCAGAACCTAAGGTTTCCTGCCAATCTT control 301 333 0 0 0 55 104 0 0.00488252367626596 0.00244126183813298 0.860770550040356 0.853509631931688 0.927680533230496 0.904933386885037 -0.860770550040356 -0.853509631931688 -0.927680533230496 -0.900050863208771 0.857140090986022 0.916306960057766 -0.857140090986022 -0.913865698219634 0.056725607233612 TRUE TRUE NA NA NA NA NA APLP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APLP2 NA NA NA ENSG00000084234 ENSE00003667345 NA NA NA NA NA NA NA 0.521618002879557 FALSE NA ENSE00000816181_000 ENSE00000816181 000 10 26581786 26581955 + 45 90 35 NA NA NA NA NA ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCAGTGCTCCAAGCTCCTCTGATACATGTGTGTA 26292856 26293026 NA NA NA NA NA NA ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCAGTGCTCCAAGCTCCTCTGATACATGTGTGTA ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCAGTGCTCCAAGCTCCTCTGATACATGTGTGTA natural 55 26 0.974500255314822 0.98079369599533 0.977646975655076 1273 1654 0.895184065690181 0.990906797879005 0.943045431784593 0.974500255314822 0.98079369599533 0.895184065690181 0.990906797879005 0 0 0 0 0.977646975655076 0.943045431784593 0 0 0 FALSE FALSE NA NA NA NA NA GAD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAD2 NA NA NA ENSG00000136750 ENSE00000816181 NA NA NA NA NA NA NA 0.898626707693029 FALSE NA ENSE00000816181_019 ENSE00000816181 019 10 26581786 26581955 + 45 90 35 C T 26581916 622 131 ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTTGAAGGTCAGTGCTCCAAGCTCCTCTGATACATGTGTGTA 26292856 26293026 26292986 26292987 26292987 exon -5 0.955555555555556 ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTTGAAGGTCAGTGCTCCAAGCTCCTCTGATACATGTGTGTA ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCAGTGCTCCAAGCTCCTCTGATACATGTGTGTA mutant NA NA NA NA NA 37 44 1 1 1 0.974500255314822 0.98079369599533 0.895184065690181 0.990906797879005 NA NA 0.104815934309819 0.00909320212099485 0.977646975655076 0.943045431784593 NA 0.056954568215407 NA FALSE NA 0.981 2.531 rs149742560 missense_variant MODERATE GAD2 HGNC 4093 ENST00000259271 15/17 rs149742560 1 tolerated(0.21) benign(0) T:0.0006 T:0 T:0 NA T:0 T:0.003 T:0 T:0 T:0.0008 TCG C,T 0.0005271 10:26292987 GAD2 HGNC Symbol protein_coding 88251 ENSG00000136750 ENSE00000816181 missense_variant 3.865942 0.90643 0.73728 0.487112 0.991225436748317 0 0.898626707693029 FALSE 0.000464726 ENSE00000816181_021 ENSE00000816181 021 10 26581786 26581955 + 45 90 35 A C 26581924 624 139 ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCCGTGCTCCAAGCTCCTCTGATACATGTGTGTA 26292856 26293026 26292994 26292995 26292995 downstr_intron 4 1.11764705882353 ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCCGTGCTCCAAGCTCCTCTGATACATGTGTGTA ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCAGTGCTCCAAGCTCCTCTGATACATGTGTGTA mutant NA NA NA NA NA 860 31 0.797522469609111 0.8 0.798761234804556 0.974500255314822 0.98079369599533 0.895184065690181 0.990906797879005 NA NA -0.0976615960810698 -0.190906797879005 0.977646975655076 0.943045431784593 NA -0.144284196980037 NA FALSE NA 0.95 2.112 . splice_region_variant&intron_variant LOW GAD2 HGNC 4093 ENST00000259271 15/16 1 NA CAG A,C 1.647e-05 10:26292995 GAD2 HGNC Symbol protein_coding 88251 ENSG00000136750 ENSE00000816181 splice_region_variant 0.585648 0.97176 0.9607 0.061011 0.853493109675857 0.27362 0.898626707693029 FALSE 2.03997e-05 ENSE00000816181_023 ENSE00000816181 023 10 26581786 26581955 + 45 90 35 A G 26581933 626 148 ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCAGTGCTCCAGGCTCCTCTGATACATGTGTGTA 26292856 26293026 26293003 26293004 26293004 downstr_intron 13 1.38235294117647 ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCAGTGCTCCAGGCTCCTCTGATACATGTGTGTA ATTGCCAGCCTGGGCCAAATGTGAATCTTCCTTTCCTCTTTGTAGCCTCAGCACACAAATGTCTGCTTCTGGTACATTCCTCCAAGCTTGCGTACTCTGGAAGACAATGAAGAGAGAATGAGTCGCCTCTCGAAGGTCAGTGCTCCAAGCTCCTCTGATACATGTGTGTA mutant NA NA NA NA NA 17 47 1 1 1 0.974500255314822 0.98079369599533 0.895184065690181 0.990906797879005 NA NA 0.104815934309819 0.00909320212099485 0.977646975655076 0.943045431784593 NA 0.056954568215407 NA FALSE NA 0 -0.458 . intron_variant MODIFIER GAD2 HGNC 4093 ENST00000259271 15/16 1 NA AAG A,G 3.295e-05 10:26293004 GAD2 HGNC Symbol protein_coding 88251 ENSG00000136750 ENSE00000816181 intron_variant 0.239475 0.15893 0.01776 0.061011 0.485051825082731 0.0840473 0.898626707693029 FALSE 2.45182e-05 ENSE00000817062_000 ENSE00000817062 000 13 36220351 36220520 + 45 90 35 NA NA NA NA NA CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 NA NA NA NA NA NA CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT natural 17 20 0.988563389038622 0.981466922855719 0.985015155947171 3914 1384 0.885102203888195 0.968886640983154 0.926994422435675 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 0 0 0 0 0.985015155947171 0.926994422435675 0 0 0 FALSE FALSE NA NA NA NA NA NBEA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NBEA NA NA NA ENSG00000172915 ENSE00000817062 NA NA NA NA NA NA NA 0.999999999999975 TRUE NA ENSE00000817062_001 ENSE00000817062 001 13 36220351 36220520 + 45 90 35 T A 36220361 92 11 CTTTGATGCAAATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646223 35646224 35646224 upstr_intron -35 -0.755555555555556 CTTTGATGCAAATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 110 388 0.985703829597795 1 0.992851914798898 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.1006016257096 0.0311133590168455 0.985015155947171 0.926994422435675 NA 0.0658574923632228 NA FALSE NA 1 1.945 rs186950562 intron_variant MODIFIER NBEA HGNC 7648 ENST00000400445 49/57 rs186950562 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ATA T,A 8.267e-06 13:35646224 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 intron_variant 2.022245 0.98363 0.97376 0.06567 0.839503365198294 0.777755 0.999999999999975 TRUE 4.31652e-06 ENSE00000817062_002 ENSE00000817062 002 13 36220351 36220520 + 45 90 35 A G 36220362 93 12 CTTTGATGCATGTTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646224 35646225 35646225 upstr_intron -34 -0.733333333333333 CTTTGATGCATGTTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 1726 296 0.998133759198359 0.992445089960148 0.995289424579253 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.113031555310163 0.0235584489769932 0.985015155947171 0.926994422435675 NA 0.0682950021435783 NA FALSE NA 1 8.72 . intron_variant MODIFIER NBEA HGNC 7648 ENST00000400445 49/57 1 NA TAT A,G 8.267e-06 13:35646225 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 intron_variant 1.919283 0.99253 0.99669 0.06567 0.858553769772697 0.875828 0.999999999999975 TRUE NA ENSE00000817062_005 ENSE00000817062 005 13 36220351 36220520 + 45 90 35 C A 36220379 96 29 CTTTGATGCATATTGATTATGACAATCAACCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646241 35646242 35646242 upstr_intron -17 -0.355555555555556 CTTTGATGCATATTGATTATGACAATCAACCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 2632 761 0.994646983618967 1 0.997323491809484 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.109544779730772 0.0311133590168455 0.985015155947171 0.926994422435675 NA 0.0703290693738086 NA FALSE NA 1 3.548 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 13:35646242 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 intron_variant 1.375166 0.99613 0.98681 0.074636 0.754357416841817 0.972157 0.999999999999975 TRUE 0.0414305 ENSE00000817062_006 ENSE00000817062 006 13 36220351 36220520 + 45 90 35 C T 36220379 97 29 CTTTGATGCATATTGATTATGACAATCATCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646241 35646242 35646242 upstr_intron -17 -0.355555555555556 CTTTGATGCATATTGATTATGACAATCATCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 313 13 0.999510057334752 1 0.999755028667376 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.114407853446556 0.0311133590168455 0.985015155947171 0.926994422435675 NA 0.072760606231701 NA FALSE NA 1 3.548 NA NA NA NBEA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NBEA NA NA NA ENSG00000172915 ENSE00000817062 intron_variant 1.398057 0.99603 0.98831 0.074636 0.748570403379745 0.972157 0.999999999999975 TRUE 1.65954e-05 ENSE00000817062_007 ENSE00000817062 007 13 36220351 36220520 + 45 90 35 C T 36220381 98 31 CTTTGATGCATATTGATTATGACAATCACCTTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646243 35646244 35646244 upstr_intron -15 -0.311111111111111 CTTTGATGCATATTGATTATGACAATCACCTTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant 20 10 0.996604877907867 1 0.998302438953934 2219 1014 0.998975485020463 0.999843999782829 0.999409742401646 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 0.00804148886924483 0.018533077144281 0.113873281132268 0.0309573587996745 0.985015155947171 0.926994422435675 0.0132872830067629 0.0724153199659713 0.0591280369592084 FALSE FALSE 1 4.309 . intron_variant MODIFIER NBEA HGNC 7648 ENST00000400445 49/57 1 NA CCT C,T 1.654e-05 13:35646244 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 intron_variant 1.571077 0.99051 0.98022 0.074636 0.795141542243715 0.974921 0.999999999999975 TRUE 8.26337e-06 ENSE00000817062_008 ENSE00000817062 008 13 36220351 36220520 + 45 90 35 T C 36220391 99 41 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCCGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646253 35646254 35646254 upstr_intron -5 -0.0888888888888889 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCCGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 34 95 0.941657717265021 1 0.970828858632511 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.056555513376826 0.0311133590168455 0.985015155947171 0.926994422435675 NA 0.0438344361968357 NA FALSE NA 0.991 -0.001 . splice_region_variant&intron_variant LOW NBEA HGNC 7648 ENST00000400445 49/57 rs199786223 1 NA CTG T,C 1.653e-05 13:35646254 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 splice_region_variant 0.819531 0.97678 0.62268 0.074636 0.813675593921725 0.395946 0.999999999999975 TRUE 8.17802e-06 ENSE00000817062_009 ENSE00000817062 009 13 36220351 36220520 + 45 90 35 G T 36220392 100 42 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTTCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646254 35646255 35646255 upstr_intron -4 -0.0666666666666667 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTTCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 377 28 1 1 1 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.114897796111805 0.0311133590168455 0.985015155947171 0.926994422435675 NA 0.0730055775643251 NA FALSE NA 0.999 2.788 . splice_region_variant&intron_variant LOW NBEA HGNC 7648 ENST00000400445 49/57 1 NA TGC G,T 8.267e-06 13:35646255 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 splice_region_variant 0.898842 0.98617 0.97643 0.074636 0.85760520760201 0.806033 0.999999999999975 TRUE 8.17661e-06 ENSE00000817062_011 ENSE00000817062 011 13 36220351 36220520 + 45 90 35 T C 36220412 102 62 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGACACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646274 35646275 35646275 exon 17 0.188888888888889 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGACACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 1488 657 0.998804647691831 0.999759205536167 0.999281926613999 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.113702443803635 0.0308725645530126 0.985015155947171 0.926994422435675 NA 0.072287504178324 NA FALSE NA 1 7.953 . missense_variant MODERATE NBEA HGNC 7648 ENST00000400445 50/58 1 deleterious(0) probably_damaging(1) NA ATA T,C 8.267e-06 13:35646275 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 missense_variant 5.845992 0.99403 0.98407 0.706298 0.996687691214333 0 0.999999999999975 TRUE 4.0702e-06 ENSE00000817062_013 ENSE00000817062 013 13 36220351 36220520 + 45 90 35 T C 36220421 104 71 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTCTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646283 35646284 35646284 exon 26 0.288888888888889 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTCTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 33 1452 1 0.994174703682161 0.99708735184108 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.114897796111805 0.0252880626990064 0.985015155947171 0.926994422435675 NA 0.0700929294054055 NA FALSE NA 1 7.953 . missense_variant MODERATE NBEA HGNC 7648 ENST00000400445 50/58 1 deleterious(0.01) benign(0.249) NA TTT T,C 8.266e-06 13:35646284 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 missense_variant 4.468668 0.99403 0.98407 0.706298 0.998604788536497 0 0.999999999999975 TRUE NA ENSE00000817062_014 ENSE00000817062 014 13 36220351 36220520 + 45 90 35 C T 36220430 105 80 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGATGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646292 35646293 35646293 exon 35 0.388888888888889 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGATGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 19 363 1 0.998731915615783 0.999365957807892 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.114897796111805 0.029845274632629 0.985015155947171 0.926994422435675 NA 0.0723715353722168 NA FALSE NA 1 7.733 . missense_variant MODERATE NBEA HGNC 7648 ENST00000400445 50/58 rs200250784&COSM357833 1 deleterious(0) probably_damaging(0.998) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 ACG C,T 0.0005703 13:35646293 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 missense_variant 6.911905 0.99568 0.98545 0.706298 0.999141786369465 0 0.999999999999975 TRUE 0.000630363 ENSE00000817062_015 ENSE00000817062 015 13 36220351 36220520 + 45 90 35 G A 36220431 106 81 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACACCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646293 35646294 35646294 exon 36 0.4 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACACCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 102 105 0.946366006622535 0.998490786958902 0.972428396790719 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.0612638027343398 0.0296041459757475 0.985015155947171 0.926994422435675 NA 0.0454339743550436 NA FALSE NA 1 5.68 rs183203594 synonymous_variant LOW NBEA HGNC 7648 ENST00000400445 50/58 rs183203594 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.001 A:0 CGC G,A 9.919e-05 13:35646294 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 synonymous_variant 1.52121 0.9927 0.96883 0.706298 0.61743002053921 0 0.999999999999975 TRUE 4.88007e-05 ENSE00000817062_016 ENSE00000817062 016 13 36220351 36220520 + 45 90 35 C T 36220459 107 109 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATTCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646321 35646322 35646322 exon -27 0.711111111111111 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATTCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 847 1827 0.913880798741902 1 0.956940399370951 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.028778594853707 0.0311133590168455 0.985015155947171 0.926994422435675 NA 0.0299459769352763 NA FALSE NA 1 4.845 . missense_variant MODERATE NBEA HGNC 7648 ENST00000400445 50/58 1 deleterious(0.01) probably_damaging(0.999) NA TCC C,T 8.267e-06 13:35646322 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 missense_variant 5.894254 0.99226 0.95519 0.706298 0.999113950263698 0 0.999999999999975 TRUE 8.13504e-06 ENSE00000817062_019 ENSE00000817062 019 13 36220351 36220520 + 45 90 35 G A 36220467 110 117 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGAAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646329 35646330 35646330 exon -19 0.8 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGAAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 226 682 1 1 1 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.114897796111805 0.0311133590168455 0.985015155947171 0.926994422435675 NA 0.0730055775643251 NA FALSE NA 1 2.388 . synonymous_variant LOW NBEA HGNC 7648 ENST00000400445 50/58 rs370207947 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0002 GGA G,A 0.0002894 13:35646330 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 synonymous_variant 0.548328 0.98882 0.93224 0.706298 0.65866061176953 0 0.999999999999975 TRUE 0.000272648 ENSE00000817062_020 ENSE00000817062 020 13 36220351 36220520 + 45 90 35 C T 36220482 111 132 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCATCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646344 35646345 35646345 exon -4 0.966666666666667 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCATCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 86 1036 1 0.999330769598669 0.999665384799334 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.114897796111805 0.0304441286155143 0.985015155947171 0.926994422435675 NA 0.0726709623636594 NA FALSE NA 1 1.648 rs139508021 synonymous_variant LOW NBEA HGNC 7648 ENST00000400445 50/58 rs139508021 1 T:0.0018 T:0.0008 T:0.0072 NA T:0 T:0.002 T:0.001 T:0 T:0.0013 ACC C,T 0.001133 13:35646345 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 synonymous_variant 1.017041 0.99379 0.93981 0.706298 0.619375292576659 0 0.999999999999975 TRUE 0.00123599 ENSE00000817062_021 ENSE00000817062 021 13 36220351 36220520 + 45 90 35 G A 36220485 112 135 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTAGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646347 35646348 35646348 exon -1 1 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTAGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 1364 2612 0.937971604668623 0.932003533371179 0.934987569019901 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.0528694007804271 -0.0368831076119751 0.985015155947171 0.926994422435675 NA 0.00799314658422601 NA FALSE NA 1 9.76 . splice_region_variant&synonymous_variant LOW NBEA HGNC 7648 ENST00000400445 50/58 1 NA TGG G,A 8.272e-06 13:35646348 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 splice_region_variant 1.008783 0.9974 0.99491 0.706298 0.953728838433485 0 0.999999999999975 TRUE NA ENSE00000817062_022 ENSE00000817062 022 13 36220351 36220520 + 45 90 35 A G 36220489 113 139 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAGGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 35646351 35646352 35646352 downstr_intron 4 1.11764705882353 CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAGGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT mutant NA NA NA NA NA 421 260 1 0.800322044855331 0.900161022427665 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 NA NA 0.114897796111805 -0.168564596127824 0.985015155947171 0.926994422435675 NA -0.0268334000080095 NA FALSE NA 1 5.27 . splice_region_variant&intron_variant LOW NBEA HGNC 7648 ENST00000400445 50/57 rs542256878 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAG A,G 8.272e-06 13:35646352 NBEA HGNC Symbol protein_coding 730735 ENSG00000172915 ENSE00000817062 splice_region_variant 0.709041 0.98887 0.95455 0.06567 0.851288128129775 0.817493 0.999999999999975 TRUE 8.18036e-06 ENSE00000817062_BRK ENSE00000817062 BRK 13 36220351 36220520 + 45 90 35 A,G; T,T NA NA NA CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCTTGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGCCAAGACATATCAGCATGTTGAGATTTTTTTTTCT 35646213 35646383 NA NA NA NA NA NA CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCTTGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGCCAAGACATATCAGCATGTTGAGATTTTTTTTTCT CTTTGATGCATATTGATTATGACAATCACCCTCCTTCCCCTGCAGGCCATGGAGGCACAGATACAGAACTTTGGACAGACGCCATCTCAGTTGCTTATTGAGCCACATCCGCCTCGGAGCTCTGCCATGCACCTGGTAAGACATATCAGCATGTTGAGATTTTTTTTTCT control 96 153 0 0 0 1207 16 0.00833903597324586 0.020760158013637 0.0145495969934415 0.988563389038622 0.981466922855719 0.885102203888195 0.968886640983154 -0.988563389038622 -0.981466922855719 -0.87676316791495 -0.948126482969517 0.985015155947171 0.926994422435675 -0.985015155947171 -0.912444825442233 0.0725703305049372 TRUE TRUE NA NA NA NA NA NBEA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NBEA NA NA NA ENSG00000172915 ENSE00000817062 NA NA NA NA NA NA NA 0.999999999999975 TRUE NA ENSE00000818267_000 ENSE00000818267 000 12 104181183 104181352 - 36 87 47 NA NA NA NA NA AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT 103787404 103787574 NA NA NA NA NA NA AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT natural 17 24 0.333641118806727 0.267394666857025 0.300517892831876 842 1752 0.677898926410689 0.793593452510866 0.735746189460777 0.333641118806727 0.267394666857025 0.677898926410689 0.793593452510866 0 0 0 0 0.300517892831876 0.735746189460777 0 0 0 FALSE FALSE NA NA NA NA NA NT5DC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NT5DC3 NA NA NA ENSG00000111696 ENSE00000818267 NA NA NA NA NA NA NA 0.000112402109573626 FALSE NA ENSE00000818267_003 ENSE00000818267 003 12 104181183 104181352 - 36 87 47 A G 104181198 2963 155 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTCTGTTGGGGGACAGAT 103787404 103787574 103787419 103787420 103787420 downstr_intron 21 1.6 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTCTGTTGGGGGACAGAT AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT mutant NA NA NA NA NA 2146 1257 0.777521894980292 0.797225043311213 0.787373469145753 0.333641118806727 0.267394666857025 0.677898926410689 0.793593452510866 NA NA 0.0996229685696033 0.00363159080034758 0.300517892831876 0.735746189460777 NA 0.0516272796849754 NA FALSE NA 0 -0.436 . intron_variant&NMD_transcript_variant MODIFIER NT5DC3 HGNC 30826 ENST00000415849 4/7 1 NA AAA A,G 8.236e-06 12:103787420 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00000818267 intron_variant 0.753748 0.22159 0.05377 0.088506 0.7221381089765 0.0455939 0.000112402109573626 FALSE 9.45385e-06 ENSE00000818267_007 ENSE00000818267 007 12 104181183 104181352 - 36 87 47 G C 104181224 2967 129 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACGTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT 103787404 103787574 103787445 103787446 103787446 exon -6 0.942528735632184 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACGTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT mutant NA NA NA NA NA 55 112 0.8 0.8 0.8 0.333641118806727 0.267394666857025 0.677898926410689 0.793593452510866 NA NA 0.122101073589311 0.00640654748913438 0.300517892831876 0.735746189460777 NA 0.0642538105392226 NA FALSE NA 1 2.456 . missense_variant&NMD_transcript_variant MODERATE NT5DC3 HGNC 30826 ENST00000415849 4/8 1 deleterious(0) probably_damaging(0.946) NA AGG G,C 8.236e-06 12:103787446 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00000818267 missense_variant 4.514438 0.97746 0.91894 0.6512 0.997857821432489 0 0.000112402109573626 FALSE NA ENSE00000818267_008 ENSE00000818267 008 12 104181183 104181352 - 36 87 47 T G 104181258 2968 95 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGCGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT 103787404 103787574 103787479 103787480 103787480 exon -40 0.551724137931034 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGCGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT mutant NA NA NA NA NA 103 236 1 0.975216582710813 0.987608291355407 0.333641118806727 0.267394666857025 0.677898926410689 0.793593452510866 NA NA 0.322101073589311 0.181623130199947 0.300517892831876 0.735746189460777 NA 0.251862101894629 NA FALSE NA 1 0.597 rs145377193 missense_variant&NMD_transcript_variant MODERATE NT5DC3 HGNC 30826 ENST00000415849 4/8 rs145377193 1 tolerated(0.31) benign(0.037) G:0.0006 G:0.0015 G:0.0014 NA G:0 G:0 G:0 G:0.0011 G:0 CTC T,G 0.0001153 12:103787480 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00000818267 missense_variant 1.623917 0.97318 0.86847 0.6512 0.980705046626996 0 0.000112402109573626 FALSE 0.000139396 ENSE00000818267_015 ENSE00000818267 015 12 104181183 104181352 - 36 87 47 T C 104181295 2975 58 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATGTGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT 103787404 103787574 103787516 103787517 103787517 exon 11 0.126436781609195 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATGTGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT mutant 115 226 0.85 0.85 0.85 35 591 0.8 0.852998839464199 0.8264994197321 0.333641118806727 0.267394666857025 0.677898926410689 0.793593452510866 0.516358881193273 0.582605333142975 0.122101073589311 0.0594053869533335 0.300517892831876 0.735746189460777 0.549482107168124 0.0907532302713222 0.458728876896802 FALSE FALSE 1 5.633 . missense_variant&NMD_transcript_variant MODERATE NT5DC3 HGNC 30826 ENST00000415849 4/8 1 tolerated(0.1) probably_damaging(0.917) NA ATA T,C 8.236e-06 12:103787517 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00000818267 missense_variant 4.609666 0.98728 0.95948 0.6512 0.99689265480176 0 0.000112402109573626 FALSE NA ENSE00000818267_016 ENSE00000818267 016 12 104181183 104181352 - 36 87 47 C T 104181313 2976 40 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTAATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT 103787404 103787574 103787534 103787535 103787535 upstr_intron -8 -0.148936170212766 AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTAATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT mutant NA NA NA NA NA 129 821 0.8 0.947533921642453 0.873766960821226 0.333641118806727 0.267394666857025 0.677898926410689 0.793593452510866 NA NA 0.122101073589311 0.153940469131587 0.300517892831876 0.735746189460777 NA 0.138020771360449 NA FALSE NA 0 -0.215 . splice_region_variant&intron_variant&NMD_transcript_variant LOW NT5DC3 HGNC 30826 ENST00000415849 3/7 1 NA TCA C,T 8.236e-06 12:103787535 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00000818267 splice_region_variant -0.029982 0.25524 0.05925 0.088506 0.400393843846383 0.0455939 0.000112402109573626 FALSE 4.26032e-06 ENSE00000818267_018 ENSE00000818267 018 12 104181183 104181352 - 36 87 47 T A 104181323 2978 30 AGATCTCTATCTGTAATAATAATAACTATTGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT 103787404 103787574 103787544 103787545 103787545 upstr_intron -18 -0.361702127659574 AGATCTCTATCTGTAATAATAATAACTATTGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT mutant NA NA NA NA NA 914 176 0.9081341812237 0.987911320797949 0.948022751010824 0.333641118806727 0.267394666857025 0.677898926410689 0.793593452510866 NA NA 0.230235254813011 0.194317868287083 0.300517892831876 0.735746189460777 NA 0.212276561550047 NA FALSE NA 0 -2.77 . intron_variant&NMD_transcript_variant MODIFIER NT5DC3 HGNC 30826 ENST00000415849 3/7 1 NA CTA T,A 1.648e-05 12:103787545 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00000818267 intron_variant 0.092795 0.16515 0.04502 0.088506 0.290436521135521 0.0448725 0.000112402109573626 FALSE 8.84056e-06 ENSE00000818267_020 ENSE00000818267 020 12 104181183 104181352 - 36 87 47 C T 104181340 2980 13 AGATCTCTATCTATAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT 103787404 103787574 103787561 103787562 103787562 upstr_intron -35 -0.723404255319149 AGATCTCTATCTATAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT AGATCTCTATCTGTAATAATAATAACTATAGTTTTCTCTGATTACAGGGTAATTTATATGAATTTTTGAAGCTTACTGGATGGAGAGGATCCAGAGTGTTGTATTTTGGTGACCATATATACAGTGACCTGGCGGTGAGGGGCCCTTTTTTCCTTTGTTGGGGGACAGAT mutant NA NA NA NA NA 368 66 0.941866628407534 0.95 0.945933314203767 0.333641118806727 0.267394666857025 0.677898926410689 0.793593452510866 NA NA 0.263967701996844 0.156406547489134 0.300517892831876 0.735746189460777 NA 0.210187124742989 NA FALSE NA 0.001 0.4 . intron_variant&NMD_transcript_variant MODIFIER NT5DC3 HGNC 30826 ENST00000415849 3/7 rs375380942 1 NA T:0.0002 T:0 ACA C,T 8.241e-06 12:103787562 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00000818267 intron_variant -0.090901 0.16286 0.03982 0.088506 0.453002338396839 0.0448725 0.000112402109573626 FALSE NA ENSE00000818633_000 ENSE00000818633 000 8 27401216 27401385 + 50 81 39 NA NA NA NA NA GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 NA NA NA NA NA NA GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC natural 21 34 0.99682643064493 0.999684693375418 0.998255562010174 1776 911 0.993838669017562 0.9321848012474 0.963011735132481 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 0 0 0 0 0.998255562010174 0.963011735132481 0 0 0 FALSE FALSE NA NA NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPHX2 NA NA NA ENSG00000120915 ENSE00000818633 NA NA NA NA NA NA NA 4.92248524715445e-13 FALSE NA ENSE00000818633_001 ENSE00000818633 001 8 27401216 27401385 + 50 81 39 G A 27401237 639 22 GGCTTCCTTTGTGGAGTGCTGACCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543719 27543720 27543720 upstr_intron -29 -0.56 GGCTTCCTTTGTGGAGTGCTGACCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 142 1528 1 0.998602202652298 0.999301101326149 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.066417401404898 0.998255562010174 0.963011735132481 NA 0.0362893661936679 NA FALSE NA 0 -0.219 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 15/17 rs544711984 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGC G,A 8.236e-06 8:27543720 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant 0.214162 0.17444 0.01982 0.164513 0.71734440174318 0.046323 4.92248524715445e-13 FALSE 4.0786e-06 ENSE00000818633_002 ENSE00000818633 002 8 27401216 27401385 + 50 81 39 C T 27401241 640 26 GGCTTCCTTTGTGGAGTGCTGGCCATTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543723 27543724 27543724 upstr_intron -25 -0.48 GGCTTCCTTTGTGGAGTGCTGGCCATTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 222 190 0.993521700038167 1 0.996760850019084 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.000316968979395149 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0337491148866024 NA FALSE NA 0 0.408 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 15/17 rs555150832 1 T:0.0004 T:0 T:0.0029 NA T:0 T:0 T:0 ACT C,T 1.647e-05 8:27543724 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant 0.303516 0.19258 0.02942 0.164513 0.774207727647993 0.046323 4.92248524715445e-13 FALSE 1.62921e-05 ENSE00000818633_003 ENSE00000818633 003 8 27401216 27401385 + 50 81 39 T C 27401245 641 30 GGCTTCCTTTGTGGAGTGCTGGCCACTTCCGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543727 27543728 27543728 upstr_intron -21 -0.4 GGCTTCCTTTGTGGAGTGCTGGCCACTTCCGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 108 51 1 1 1 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0369882648675189 NA FALSE NA 0 -0.53 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 15/17 1 NA CTG T,C 6.589e-05 8:27543728 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant 0.032284 0.14328 0.00234 0.164513 0.490865914539559 0.046875 4.92248524715445e-13 FALSE 4.88182e-05 ENSE00000818633_004 ENSE00000818633 004 8 27401216 27401385 + 50 81 39 C G 27401250 642 35 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTGCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543732 27543733 27543733 upstr_intron -16 -0.3 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTGCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 262 98 0.995026604000419 1 0.997513302000209 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00118793498285641 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0345015668677282 NA FALSE NA 0 1.234 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 15/17 1 NA TCC C,G 8.236e-06 8:27543733 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant 0.281493 0.17519 0.10813 0.164513 0.631709065665979 0.0968874 4.92248524715445e-13 FALSE 4.06636e-06 ENSE00000818633_005 ENSE00000818633 005 8 27401216 27401385 + 50 81 39 G C 27401253 643 38 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTCTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543735 27543736 27543736 upstr_intron -13 -0.24 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTCTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 172 301 1 0.978382065025636 0.989191032512818 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0461972637782357 0.998255562010174 0.963011735132481 NA 0.0261792973803368 NA FALSE NA 0 -1.317 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 15/17 1 NA TGT G,C 8.236e-06 8:27543736 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant 0.588699 0.1958 0.03118 0.164513 0.67190893495964 0.155319 4.92248524715445e-13 FALSE 4.06514e-06 ENSE00000818633_006 ENSE00000818633 006 8 27401216 27401385 + 50 81 39 T C 27401255 644 40 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTCCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543737 27543738 27543738 upstr_intron -11 -0.2 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTCCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 376 219 0.983426817070366 1 0.991713408535183 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.0104118519471957 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0287016734027021 NA FALSE NA 0 0.614 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 15/17 1 NA TTC T,C 2.471e-05 8:27543738 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant 1.044097 0.15182 0.02619 0.164513 0.686467139585324 0.155319 4.92248524715445e-13 FALSE NA ENSE00000818633_007 ENSE00000818633 007 8 27401216 27401385 + 50 81 39 C T 27401262 645 47 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCTCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543744 27543745 27543745 upstr_intron -4 -0.06 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCTCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 300 86 1 1 1 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0369882648675189 NA FALSE NA 0.008 -0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:27543745 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 splice_region_variant 1.888934 0.72998 0.04025 0.164513 0.806997112648628 0.286701 4.92248524715445e-13 FALSE 4.46966e-05 ENSE00000818633_008 ENSE00000818633 008 8 27401216 27401385 + 50 81 39 C A 27401262 646 47 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCACAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543744 27543745 27543745 upstr_intron -4 -0.06 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCACAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 77 775 1 1 1 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0369882648675189 NA FALSE NA 0.008 -0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00000818633 splice_region_variant 1.94444 0.73914 0.0979 0.164513 0.823792073221002 0.286701 0.000257274838666869 FALSE 6.50132e-05 ENSE00000818633_009 ENSE00000818633 009 8 27401216 27401385 + 50 81 39 C G 27401262 647 47 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCGCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543744 27543745 27543745 upstr_intron -4 -0.06 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCGCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 960 103 0.998620086500825 1 0.999310043250413 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00478141748326277 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0362983081179314 NA FALSE NA 0.008 -0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPHX2 NA NA NA ENSG00000120915 ENSE00000818633 splice_region_variant 1.617947 0.74645 0.06629 0.164513 0.843511263581535 0.286701 4.92248524715445e-13 FALSE 3.65699e-05 ENSE00000818633_013 ENSE00000818633 013 8 27401216 27401385 + 50 81 39 C T 27401276 651 61 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCTGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543758 27543759 27543759 exon 11 0.135802469135802 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCTGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 220 797 1 0.98892625219545 0.994463126097725 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0567414509480505 0.998255562010174 0.963011735132481 NA 0.0314513909652441 NA FALSE NA 0.981 5.188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:27543759 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 7.030905 0.97891 0.91769 0.706298 0.998697041147705 0 4.92248524715445e-13 FALSE 2.031e-05 ENSE00000818633_014 ENSE00000818633 014 8 27401216 27401385 + 50 81 39 C A 27401276 652 61 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCAGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543758 27543759 27543759 exon 11 0.135802469135802 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCAGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 939 198 0.998527971134938 1 0.999263985567469 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00468930211737617 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0362522504349881 NA FALSE NA 0.981 5.188 NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPHX2 NA NA NA ENSG00000120915 ENSE00000818633 missense_variant 6.649864 0.97971 0.93324 0.706298 0.993074780057405 0 4.92248524715445e-13 FALSE 4.062e-06 ENSE00000818633_015 ENSE00000818633 015 8 27401216 27401385 + 50 81 39 G A 27401277 653 62 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCAGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543759 27543760 27543760 exon 12 0.148148148148148 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCAGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 851 205 0.995386943574874 0.946952444148478 0.971169693861676 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00154827455731188 0.0147676429010781 0.998255562010174 0.963011735132481 NA 0.008157958729195 NA FALSE NA 0.021 -2.139 rs145061702 synonymous_variant LOW EPHX2 HGNC 3402 ENST00000521780 16/18 rs145061702 1 NA A:0 A:0.0003 CGG G,A 9.06e-05 8:27543760 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 synonymous_variant 0.900713 0.10013 0.00759 0.706298 0.577035789872236 0 4.92248524715445e-13 FALSE 6.90512e-05 ENSE00000818633_016 ENSE00000818633 016 8 27401216 27401385 + 50 81 39 C T 27401281 654 66 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCTTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543763 27543764 27543764 exon 16 0.197530864197531 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCTTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 204 306 1 1 1 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0369882648675189 NA FALSE NA 0.835 0.075 NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:27543764 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 synonymous_variant 1.064958 0.9558 0.14802 0.706298 0.675407213221936 0 4.92248524715445e-13 FALSE 2.43686e-05 ENSE00000818633_019 ENSE00000818633 019 8 27401216 27401385 + 50 81 39 C T 27401291 657 76 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCATGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543773 27543774 27543774 exon 26 0.320987654320988 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCATGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 176 197 0.978415796903317 1 0.989207898451658 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.0154228721142456 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0261961633191772 NA FALSE NA 0.968 3.594 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 16/18 1 deleterious(0) possibly_damaging(0.897) NA ACG C,T 1.647e-05 8:27543774 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 5.923852 0.92808 0.80491 0.706298 0.998889926879948 0 4.92248524715445e-13 FALSE 8.12295e-06 ENSE00000818633_020 ENSE00000818633 020 8 27401216 27401385 + 50 81 39 G A 27401292 658 77 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACAGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543774 27543775 27543775 exon 27 0.333333333333333 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACAGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 67 311 0.98214258192766 1 0.99107129096383 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.0116960870899026 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0280595558313487 NA FALSE NA 0.162 -1.582 . synonymous_variant LOW EPHX2 HGNC 3402 ENST00000521780 16/18 1 NA CGG G,A 8.236e-05 8:27543775 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 synonymous_variant 0.908599 0.05783 0.00853 0.706298 0.488805632490458 0 4.92248524715445e-13 FALSE 0.000105592 ENSE00000818633_022 ENSE00000818633 022 8 27401216 27401385 + 50 81 39 C A 27401294 660 79 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGAGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543776 27543777 27543777 exon 29 0.358024691358025 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGAGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 539 64 0.960986027562429 0.979700103559908 0.970343065561168 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.0328526414551337 0.0475153023125079 0.998255562010174 0.963011735132481 NA 0.00733133042868711 NA FALSE NA 0.947 3.628 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:27543777 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 5.462719 0.33623 0.75781 0.706298 0.989983586182944 0 4.92248524715445e-13 FALSE 0.000109657 ENSE00000818633_023 ENSE00000818633 023 8 27401216 27401385 + 50 81 39 C T 27401294 661 79 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGTGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543776 27543777 27543777 exon 29 0.358024691358025 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGTGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 218 98 1 0.957380248725279 0.978690124362639 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0251954474778788 0.998255562010174 0.963011735132481 NA 0.0156783892301583 NA FALSE NA 0.947 3.628 NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPHX2 NA NA NA ENSG00000120915 ENSE00000818633 missense_variant 5.517008 0.32393 0.68949 0.706298 0.998786148036662 0 4.92248524715445e-13 FALSE 7.31048e-05 ENSE00000818633_024 ENSE00000818633 024 8 27401216 27401385 + 50 81 39 G A 27401295 662 80 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCAGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543777 27543778 27543778 exon 30 0.37037037037037 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCAGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 90 110 0.971576299363947 1 0.985788149681974 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.0222623696536148 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0227764145494926 NA FALSE NA 0 -4.463 . synonymous_variant LOW EPHX2 HGNC 3402 ENST00000521780 16/18 1 NA CGG G,A 3.295e-05 8:27543778 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 synonymous_variant 1.14049 0.09994 0.00792 0.706298 0.363178447149431 0 4.92248524715445e-13 FALSE 3.24905e-05 ENSE00000818633_026 ENSE00000818633 026 8 27401216 27401385 + 50 81 39 C T 27401304 664 89 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGATTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543786 27543787 27543787 exon 39 0.481481481481481 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGATTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 878 135 0.998442882651747 1 0.999221441325874 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00460421363418517 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0362097061933926 NA FALSE NA 0.026 0.368 . synonymous_variant LOW EPHX2 HGNC 3402 ENST00000521780 16/18 1 NA ACT C,T 2.471e-05 8:27543787 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 synonymous_variant 0.75483 0.31581 0.05509 0.706298 0.430683354379252 0 4.92248524715445e-13 FALSE 3.24894e-05 ENSE00000818633_027 ENSE00000818633 027 8 27401216 27401385 + 50 81 39 G A 27401308 665 93 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCATGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543790 27543791 27543791 exon -39 0.530864197530864 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCATGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 529 341 0.890534841068362 0.999888318691883 0.945211579880122 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.103303827949201 0.0677035174444832 0.998255562010174 0.963011735132481 NA -0.0178001552523587 NA FALSE NA 0.995 3.733 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 16/18 1 deleterious(0) probably_damaging(0.916) NA CGT G,A 8.236e-06 8:27543791 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 5.435253 0.9383 0.82932 0.706298 0.998734981894165 0 4.92248524715445e-13 FALSE 1.2184e-05 ENSE00000818633_028 ENSE00000818633 028 8 27401216 27401385 + 50 81 39 C T 27401313 666 98 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTTGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543795 27543796 27543796 exon -34 0.592592592592593 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTTGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 444 381 0.81261713273937 0.995056700432782 0.903836916586076 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.181221536278192 0.0628718991853817 0.998255562010174 0.963011735132481 NA -0.0591748185464052 NA FALSE NA 0 -3.23 . synonymous_variant LOW EPHX2 HGNC 3402 ENST00000521780 16/18 1 NA TCG C,T 2.471e-05 8:27543796 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 synonymous_variant 1.560737 0.13472 0.01024 0.706298 0.569395386133024 0 4.92248524715445e-13 FALSE 2.03062e-05 ENSE00000818633_029 ENSE00000818633 029 8 27401216 27401385 + 50 81 39 G A 27401314 667 99 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCATTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543796 27543797 27543797 exon -33 0.604938271604938 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCATTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 155 50 1 1 1 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0369882648675189 NA FALSE NA 0 -2.795 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 16/18 rs200277522 1 tolerated(0.39) benign(0) NA CGT G,A 7.413e-05 8:27543797 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant -0.813606 0.10213 0.00976 0.706298 0.737504525795926 0 4.92248524715445e-13 FALSE 6.90428e-05 ENSE00000818633_030 ENSE00000818633 030 8 27401216 27401385 + 50 81 39 T C 27401316 668 101 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTCCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543798 27543799 27543799 exon -31 0.62962962962963 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTCCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 733 102 1 1 1 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0369882648675189 NA FALSE NA 0.002 -0.63 . synonymous_variant LOW EPHX2 HGNC 3402 ENST00000521780 16/18 1 NA TTC T,C 8.236e-06 8:27543799 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 synonymous_variant -0.310721 0.17084 0.02293 0.706298 0.60444475573954 0 4.92248524715445e-13 FALSE 4.06134e-06 ENSE00000818633_031 ENSE00000818633 031 8 27401216 27401385 + 50 81 39 G A 27401325 669 110 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATATCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543807 27543808 27543808 exon -22 0.740740740740741 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATATCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 25 850 1 0.988939549925069 0.994469774962534 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0567547486776688 0.998255562010174 0.963011735132481 NA 0.0314580398300533 NA FALSE NA 0.999 1.07 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 16/18 rs572922758 1 deleterious(0.02) benign(0) NA TGT G,A 6.589e-05 8:27543808 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 3.077825 0.95313 0.69343 0.706298 0.985446902945737 0 4.92248524715445e-13 FALSE 7.31154e-05 ENSE00000818633_032 ENSE00000818633 032 8 27401216 27401385 + 50 81 39 C T 27401327 670 112 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTTCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543809 27543810 27543810 exon -20 0.765432098765432 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTTCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 50 198 1 1 1 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0369882648675189 NA FALSE NA 1 1.834 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 16/18 1 deleterious(0) benign(0.446) NA TCC C,T 8.236e-06 8:27543810 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 5.406932 0.96542 0.78191 0.706298 0.997773795449561 0 4.92248524715445e-13 FALSE 8.12427e-06 ENSE00000818633_035 ENSE00000818633 035 8 27401216 27401385 + 50 81 39 C A 27401332 673 117 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGAACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543814 27543815 27543815 exon -15 0.827160493827161 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGAACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 195 292 0.941904941197982 0.991197992695599 0.966551466946791 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.0519337278195798 0.0590131914481991 0.998255562010174 0.963011735132481 NA 0.00353973181430961 NA FALSE NA 0.999 0.971 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 16/18 rs375528474 1 tolerated(0.48) benign(0.004) NA GCA C,A 1.647e-05 8:27543815 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 1.791563 0.95614 0.57048 0.706298 0.626037474308945 0 4.92248524715445e-13 FALSE 1.21879e-05 ENSE00000818633_037 ENSE00000818633 037 8 27401216 27401385 + 50 81 39 A C 27401339 675 124 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGCGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543821 27543822 27543822 exon -8 0.91358024691358 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGCGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 377 40 1 1 1 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00616133098243776 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0369882648675189 NA FALSE NA 1 6.178 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 16/18 1 deleterious(0) benign(0.146) NA GAG A,C 1.647e-05 8:27543822 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 4.740024 0.97745 0.95237 0.706298 0.996936837243172 0 4.92248524715445e-13 FALSE 1.62553e-05 ENSE00000818633_039 ENSE00000818633 039 8 27401216 27401385 + 50 81 39 T G 27401344 677 129 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACGGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 27543826 27543827 27543827 exon -3 0.975308641975309 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACGGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 762 289 0.948623951949251 1 0.974311975974625 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.0452147170683117 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0113002408421441 NA FALSE NA 1 1.914 . missense_variant&splice_region_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 16/18 1 deleterious(0.01) benign(0.004) NA CTG T,G 3.295e-05 8:27543827 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 missense_variant 3.508194 0.97718 0.85551 0.706298 0.980459161659879 0 4.92248524715445e-13 FALSE 3.25209e-05 ENSE00000818633_042 ENSE00000818633 042 8 27401216 27401385 + 50 81 39 C T 27401366 680 151 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTATAAGGGTCATCAGTGCACCC 27543698 27543868 27543848 27543849 27543849 downstr_intron 20 1.52631578947368 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTATAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 144 357 0.99571557635231 1 0.997857788176155 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00187690733474732 0.0678151987526 0.998255562010174 0.963011735132481 NA 0.0348460530436737 NA FALSE NA 0 -1.5 rs138795951 intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 16/17 rs138795951 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 ACA C,T 4.942e-05 8:27543849 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant 0.222001 0.17746 0.01165 0.078448 0.703266809572758 0.11932 4.92248524715445e-13 FALSE 6.52162e-05 ENSE00000818633_043 ENSE00000818633 043 8 27401216 27401385 + 50 81 39 A G 27401367 681 152 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACGAGGGTCATCAGTGCACCC 27543698 27543868 27543849 27543850 27543850 downstr_intron 21 1.55263157894737 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACGAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 847 672 0.918903058807045 1 0.959451529403523 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.0749356102105168 0.0678151987526 0.998255562010174 0.963011735132481 NA -0.00356020572895838 NA FALSE NA 0 -3.022 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 16/17 1 NA CAA A,G 3.295e-05 8:27543850 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant -0.192089 0.03947 0.00218 0.078448 0.394678058899164 0.11932 4.92248524715445e-13 FALSE 3.26083e-05 ENSE00000818633_044 ENSE00000818633 044 8 27401216 27401385 + 50 81 39 G T 27401371 682 156 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGTTCATCAGTGCACCC 27543698 27543868 27543853 27543854 27543854 downstr_intron 25 1.65789473684211 GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGTTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC mutant NA NA NA NA NA 582 527 0.997844111588016 0.998972700372689 0.998408405980352 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA 0.00400544257045377 0.0667878991252889 0.998255562010174 0.963011735132481 NA 0.0353966708478713 NA FALSE NA 0.023 0.507 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 16/17 1 NA GGT G,T 8.236e-06 8:27543854 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00000818633 intron_variant 0.10354 0.27639 0.13462 0.078448 0.665210753766232 0.11932 4.92248524715445e-13 FALSE 4.07997e-06 ENSE00000818633_BRK ENSE00000818633 BRK 8 27401216 27401385 + 50 81 39 A,G; T,T NA NA NA GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCTTATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGCCGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC 27543698 27543868 NA NA NA NA NA NA GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCTTATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGCCGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC GGCTTCCTTTGTGGAGTGCTGGCCACTTCTGTTTCCTGTTCTCCCCCCAGATCCTGATTCCGGCCCTGATGGTCACGGCGGAGAAGGACTTCGTGCTCGTTCCTCAGATGTCCCAGCACATGGAGGACTGGGTGAGGGAATGGCCCTGTACAAGGGTCATCAGTGCACCC control NA NA NA NA NA 177 116 0.0103825174276533 0 0.00519125871382663 0.99682643064493 0.999684693375418 0.993838669017562 0.9321848012474 NA NA -0.983456151589909 -0.9321848012474 0.998255562010174 0.963011735132481 NA -0.957820476418654 NA TRUE NA NA NA NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPHX2 NA NA NA ENSG00000120915 ENSE00000818633 NA NA NA NA NA NA NA 4.92248524715445e-13 FALSE NA ENSE00000818636_000 ENSE00000818636 000 8 27394247 27394416 + 54 72 44 NA NA NA NA NA ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 NA NA NA NA NA NA ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG natural NA NA NA NA NA 380 378 0.974370425163141 0.838175363453397 0.906272894308269 NA NA 0.974370425163141 0.838175363453397 NA NA 0 0 NA 0.906272894308269 NA 0 NA FALSE NA NA NA NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPHX2 NA NA NA ENSG00000120915 ENSE00003473677 NA NA NA NA NA NA NA 4.92248524715445e-13 FALSE NA ENSE00000818636_003 ENSE00000818636 003 8 27394247 27394416 + 54 72 44 G A 27394258 617 12 ACAGTTTCCACAATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536740 27536741 27536741 upstr_intron -43 -0.777777777777778 ACAGTTTCCACAATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 32 62 0.998706810611101 0.986278014908273 0.992492412759687 NA NA 0.974370425163141 0.838175363453397 NA NA 0.0243363854479598 0.148102651454876 NA 0.906272894308269 NA 0.0862195184514178 NA FALSE NA 0 -0.774 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 11/17 rs368589081 1 NA A:0 A:0.0001 CGA G,A 2.471e-05 8:27536741 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 intron_variant -0.39121 0.10453 0.01289 0.164513 0.419894335382583 0.135945 4.92248524715445e-13 FALSE 2.03452e-05 ENSE00000818636_004 ENSE00000818636 004 8 27394247 27394416 + 54 72 44 A G 27394277 618 31 ACAGTTTCCACGATTTCTAGGGGGTCCTTCGTTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536759 27536760 27536760 upstr_intron -24 -0.425925925925926 ACAGTTTCCACGATTTCTAGGGGGTCCTTCGTTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 25 94 0.0122993102727005 0.0503738717769655 0.031336591024833 NA NA 0.974370425163141 0.838175363453397 NA NA -0.962071114890441 -0.787801491676432 NA 0.906272894308269 NA -0.874936303283436 NA TRUE NA 0.74 1.582 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 11/17 1 NA CAT A,G 8.236e-06 8:27536760 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 intron_variant 0.393559 0.19495 0.58775 0.164513 0.710268471040479 0.156438 4.92248524715445e-13 FALSE 4.06418e-06 ENSE00000818636_005 ENSE00000818636 005 8 27394247 27394416 + 54 72 44 G A 27394282 619 36 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTACTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536764 27536765 27536765 upstr_intron -19 -0.333333333333333 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTACTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 142 136 0.865881465364143 0.992988567826377 0.92943501659526 NA NA 0.974370425163141 0.838175363453397 NA NA -0.108488959798999 0.15481320437298 NA 0.906272894308269 NA 0.0231621222869907 NA FALSE NA 0 -0.615 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 11/17 rs201541609 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGC G,A 4.118e-05 8:27536765 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 intron_variant 0.795992 0.16384 0.01334 0.164513 0.668664247908506 0.156438 4.92248524715445e-13 FALSE 4.06375e-05 ENSE00000818636_006 ENSE00000818636 006 8 27394247 27394416 + 54 72 44 C T 27394283 620 37 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGTTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536765 27536766 27536766 upstr_intron -18 -0.314814814814815 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGTTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 26 150 1 1 1 NA NA 0.974370425163141 0.838175363453397 NA NA 0.0256295748368587 0.161824636546603 NA 0.906272894308269 NA 0.0937271056917307 NA FALSE NA 0 -0.271 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 11/17 1 NA GCT C,T 8.236e-06 8:27536766 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 intron_variant 0.902679 0.14097 0.02758 0.164513 0.652912301136326 0.156438 4.92248524715445e-13 FALSE 4.06554e-06 ENSE00000818636_007 ENSE00000818636 007 8 27394247 27394416 + 54 72 44 T C 27394284 621 38 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCCTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536766 27536767 27536767 upstr_intron -17 -0.296296296296296 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCCTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 177 73 0.995008027676967 0.997887048575713 0.99644753812634 NA NA 0.974370425163141 0.838175363453397 NA NA 0.0206376025138253 0.159711685122316 NA 0.906272894308269 NA 0.0901746438180704 NA FALSE NA 0.006 0.107 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 11/17 rs565634716 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTT T,C 8.236e-06 8:27536767 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 intron_variant 0.838892 0.14623 0.0123 0.164513 0.760284402373908 0.156438 4.92248524715445e-13 FALSE 8.12651e-06 ENSE00000818636_009 ENSE00000818636 009 8 27394247 27394416 + 54 72 44 A C 27394299 623 53 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTCGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536781 27536782 27536782 upstr_intron -2 -0.0185185185185185 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTCGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 180 69 0.0983156477671742 0.0277154995663774 0.0630155736667758 NA NA 0.974370425163141 0.838175363453397 NA NA -0.876054777395967 -0.81045986388702 NA 0.906272894308269 NA -0.843257320641494 NA TRUE NA 0.994 5.394 NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:27536782 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 splice_acceptor_variant 4.555952 0.97712 0.95329 0.294411 0.993397201429774 0.967421 4.92248524715445e-13 FALSE NA ENSE00000818636_010 ENSE00000818636 010 8 27394247 27394416 + 54 72 44 G A 27394321 624 75 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTAGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536803 27536804 27536804 exon 21 0.291666666666667 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTAGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 77 20 0.896271817621855 0.8 0.848135908810928 NA NA 0.974370425163141 0.838175363453397 NA NA -0.0780986075412862 -0.0381753634533972 NA 0.906272894308269 NA -0.0581369854973417 NA FALSE NA 1 3.018 rs147834561 synonymous_variant LOW EPHX2 HGNC 3402 ENST00000521780 12/18 rs147834561 1 NA A:0 A:0.0002 TGG G,A 1.647e-05 8:27536804 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 synonymous_variant 1.083624 0.96512 0.86378 0.706298 0.726304395121091 0 4.92248524715445e-13 FALSE 2.03136e-05 ENSE00000818636_011 ENSE00000818636 011 8 27394247 27394416 + 54 72 44 A G 27394329 625 83 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAGCCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536811 27536812 27536812 exon 29 0.402777777777778 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAGCCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 38 83 0.957773355087454 0.96807776573325 0.962925560410352 NA NA 0.974370425163141 0.838175363453397 NA NA -0.0165970700756871 0.129902402279852 NA 0.906272894308269 NA 0.0566526661020826 NA FALSE NA 1 5.394 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 12/18 rs200503145 1 deleterious(0.03) benign(0.022) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAC A,G 1.648e-05 8:27536812 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 missense_variant 3.398041 0.9782 0.95148 0.706298 0.997834433384997 0 4.92248524715445e-13 FALSE 2.03568e-05 ENSE00000818636_013 ENSE00000818636 013 8 27394247 27394416 + 54 72 44 C T 27394337 627 91 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTTGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536819 27536820 27536820 exon -36 0.513888888888889 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTTGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 32 55 0.991141544385633 0.992756574635952 0.991949059510792 NA NA 0.974370425163141 0.838175363453397 NA NA 0.0167711192224915 0.154581211182554 NA 0.906272894308269 NA 0.085676165202523 NA FALSE NA 1 1.858 . missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 12/18 1 deleterious(0) probably_damaging(0.995) NA TCG C,T 1.647e-05 8:27536820 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 missense_variant 7.502423 0.97927 0.84972 0.706298 0.999067187989144 0 4.92248524715445e-13 FALSE 3.24897e-05 ENSE00000818636_015 ENSE00000818636 015 8 27394247 27394416 + 54 72 44 G T 27394350 629 104 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAATCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536832 27536833 27536833 exon -23 0.694444444444444 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAATCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 36 190 1 0.905408681036479 0.95270434051824 NA NA 0.974370425163141 0.838175363453397 NA NA 0.0256295748368587 0.0672333175830822 NA 0.906272894308269 NA 0.0464314462099704 NA FALSE NA 0 -0.018 NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:27536833 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 missense_variant 1.05776 0.93113 0.04135 0.706298 0.695001018488685 0 4.92248524715445e-13 FALSE 8.5291e-05 ENSE00000818636_018 ENSE00000818636 018 8 27394247 27394416 + 54 72 44 G A 27394367 632 121 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCAATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536849 27536850 27536850 exon -6 0.930555555555556 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCAATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 49 392 1 0.963566782474466 0.981783391237233 NA NA 0.974370425163141 0.838175363453397 NA NA 0.0256295748368587 0.125391419021069 NA 0.906272894308269 NA 0.0755104969289639 NA FALSE NA 0.996 2.364 rs145160595 missense_variant MODERATE EPHX2 HGNC 3402 ENST00000521780 12/18 rs145160595 1 tolerated(0.19) benign(0.001) A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0034 A:0 CGA G,A 0.0002636 8:27536850 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 missense_variant 1.782034 0.93154 0.78078 0.706298 0.970686330695952 0 4.92248524715445e-13 FALSE 0.000312975 ENSE00000818636_019 ENSE00000818636 019 8 27394247 27394416 + 54 72 44 G A 27394372 633 126 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAAGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536854 27536855 27536855 exon -1 1 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAAGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 174 24 0 0 0 NA NA 0.974370425163141 0.838175363453397 NA NA -0.974370425163141 -0.838175363453397 NA 0.906272894308269 NA -0.906272894308269 NA TRUE NA 1 1.436 . splice_region_variant&synonymous_variant LOW EPHX2 HGNC 3402 ENST00000521780 12/18 1 NA AGG G,A 8.236e-06 8:27536855 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 splice_region_variant 0.998661 0.96273 0.61609 0.706298 0.752410497677393 0 4.92248524715445e-13 FALSE NA ENSE00000818636_020 ENSE00000818636 020 8 27394247 27394416 + 54 72 44 T C 27394387 634 141 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGACGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 27536869 27536870 27536870 downstr_intron 15 1.34883720930233 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGACGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 67 42 0.970630701913793 1 0.985315350956896 NA NA 0.974370425163141 0.838175363453397 NA NA -0.00373972324934868 0.161824636546603 NA 0.906272894308269 NA 0.079042456648627 NA FALSE NA 0 -3.188 rs59189067 intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 12/17 rs59189067 1 C:0.0809 C:0.2867 C:0.0245 NA C:0 C:0.008 C:0.001 C:0.2567 C:0.0059 ATG C,C 0.028 8:27536870 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 intron_variant -0.372256 0.05326 0.00312 0.053691 0.271717926919365 0.046875 4.92248524715445e-13 FALSE 0.0238024 ENSE00000818636_024 ENSE00000818636 024 8 27394247 27394416 + 54 72 44 G A 27394406 638 160 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAAGGGGCAGTTG 27536729 27536899 27536888 27536889 27536889 downstr_intron 34 1.7906976744186 ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAAGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG mutant NA NA NA NA NA 17 103 0.886692804803309 0.955809855500622 0.921251330151965 NA NA 0.974370425163141 0.838175363453397 NA NA -0.0876776203598326 0.117634492047225 NA 0.906272894308269 NA 0.0149784358436961 NA FALSE NA 0 0.33 . intron_variant MODIFIER EPHX2 HGNC 3402 ENST00000521780 12/17 1 NA AGG G,A 8.237e-06 8:27536889 EPHX2 HGNC Symbol protein_coding 54785 ENSG00000120915 ENSE00003473677 intron_variant 0.158366 0.15621 0.05291 0.053691 0.756429007581208 0.046875 4.92248524715445e-13 FALSE 1.64033e-05 ENSE00000818636_BRK ENSE00000818636 BRK 8 27394247 27394416 + 54 72 44 A,G; T,T NA NA NA ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTTTGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGCCGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG 27536729 27536899 NA NA NA NA NA NA ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTTTGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGCCGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG ACAGTTTCCACGATTTCTAGGGGGTCCTTCATTTTGCTTTCTTGATTGTTTTAGGGAGTGGCTGAGGCTGAACTGGAACAGAACCTGAGTCGGACTTTCAAAAGCCTCTTCAGAGCAAGCGATGAGGTGAGGGGTGGGGATGGGTGCAGAAGAACAGGAGGGGGCAGTTG control NA NA NA NA NA 404 50 0.0224699924180671 0.00647168118313314 0.0144708368006001 NA NA 0.974370425163141 0.838175363453397 NA NA -0.951900432745074 -0.831703682270264 NA 0.906272894308269 NA -0.891802057507669 NA TRUE NA NA NA NA NA NA EPHX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPHX2 NA NA NA ENSG00000120915 ENSE00003473677 NA NA NA NA NA NA NA 4.92248524715445e-13 FALSE NA ENSE00000828162_000 ENSE00000828162 000 X 128887090 128887259 + 45 90 35 NA NA NA NA NA CCCAAAAGGCCATGTCTGCCTGAACGTGGACTTACGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCCTGTTGGGGGCAGGGAGGAGAAAAGGAGGTCTGGGGGCACAGGTC 129753113 129753283 NA NA NA NA NA NA GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG natural 71 132 0.982078550231727 0.993321616886794 0.987700083559261 542 721 0.922078573573469 0.993761451836903 0.957920012705186 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 0 0 0 0 0.987700083559261 0.957920012705186 0 0 0 FALSE FALSE NA NA NA NA NA XPNPEP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPNPEP2 NA NA NA ENSG00000122121 ENSE00000828162 NA NA NA NA NA NA NA 1.69204692246069e-06 FALSE NA ENSE00000828162_001 ENSE00000828162 001 X 128887090 128887259 + 45 90 35 C G 128887101 1009 12 CCCAAAAGGCCATGTCTGCCTGAACGTGGACTTACGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCCTGTTGGGGGCAGGGAGGAGAAAAGGAGGTCTGCGGGCACAGGTC 129753113 129753283 129753124 129753125 129753125 upstr_intron -34 -0.733333333333333 GACCTGTGCCCGCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG mutant NA NA NA NA NA 59 315 1 0.994629859895321 0.997314929947661 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 NA NA 0.0779214264265308 0.000868408058417924 0.987700083559261 0.957920012705186 NA 0.0393949172424743 NA FALSE NA 0 -0.12 . intron_variant MODIFIER XPNPEP2 HGNC 12823 ENST00000371106 10/20 rs369287418 1 G:0 G:0 NA G:0 G:0 G:0.001 G:0.0003 G:0.0012 CCC C 0.0009966 X:129753125 XPNPEP2 HGNC Symbol protein_coding 30564 ENSG00000122121 ENSE00000828162 intron_variant -0.037523 0.23551 0.05887 0 0.414460953199055 0.0386214 1.69204692246069e-06 FALSE 0.000954425 ENSE00000828162_002 ENSE00000828162 002 X 128887090 128887259 + 45 90 35 C T 128887102 1010 13 CCCAAAAGGCCATGTCTGCCTGAACGTGGACTTACGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCCTGTTGGGGGCAGGGAGGAGAAAAGGAGGTCTAGGGGCACAGGTC 129753113 129753283 129753125 129753126 129753126 upstr_intron -33 -0.711111111111111 GACCTGTGCCCCTAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG mutant NA NA NA NA NA 152 84 1 1 1 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 NA NA 0.0779214264265308 0.00623854816309677 0.987700083559261 0.957920012705186 NA 0.0420799872948138 NA FALSE NA 0.004 0.312 rs181436426 intron_variant MODIFIER XPNPEP2 HGNC 12823 ENST00000371106 10/20 rs181436426 1 T:0 T:0 NA T:0.001 T:0 T:0 CCA C 8.237e-06 X:129753126 XPNPEP2 HGNC Symbol protein_coding 30564 ENSG00000122121 ENSE00000828162 intron_variant 0.229861 0.18085 0.02333 0 0.321117555452647 0.0386214 1.69204692246069e-06 FALSE 2.82263e-05 ENSE00000828162_005 ENSE00000828162 005 X 128887090 128887259 + 45 90 35 T C 128887114 1013 25 CCCAAAAGGCCATGTCTGCCTGAACGTGGACTTACGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCCTGTTGGGGGCAGGGAGGAGGAAAGGAGGTCTGGGGGCACAGGTC 129753113 129753283 129753137 129753138 129753138 upstr_intron -21 -0.444444444444444 GACCTGTGCCCCCAGACCTCCTTTCCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG mutant NA NA NA NA NA 13 90 0.95459694873137 0.997857307350498 0.976227128040934 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 NA NA 0.0325183751579003 0.00409585551359515 0.987700083559261 0.957920012705186 NA 0.0183071153357477 NA FALSE NA 0.002 0.267 . intron_variant MODIFIER XPNPEP2 HGNC 12823 ENST00000371106 10/20 1 NA TTC T 8.237e-06 X:129753138 XPNPEP2 HGNC Symbol protein_coding 30564 ENSG00000122121 ENSE00000828162 intron_variant 0.012848 0.11992 0.00695 0 0.654950672255286 0.0386214 1.69204692246069e-06 FALSE 5.61564e-06 ENSE00000828162_008 ENSE00000828162 008 X 128887090 128887259 + 45 90 35 C G 128887128 1016 39 CCCAAAAGGCCATGTCTGCCTGAACGTGGACTTACGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCCTGTTGCGGGCAGGGAGGAGAAAAGGAGGTCTGGGGGCACAGGTC 129753113 129753283 129753151 129753152 129753152 upstr_intron -7 -0.133333333333333 GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCGCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG mutant NA NA NA NA NA 59 373 1 0.998973138540974 0.999486569270487 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 NA NA 0.0779214264265308 0.00521168670407068 0.987700083559261 0.957920012705186 NA 0.0415665565653007 NA FALSE NA 0 -0.278 . splice_region_variant&intron_variant LOW XPNPEP2 HGNC 12823 ENST00000371106 10/20 1 NA CCC C 2.471e-05 X:129753152 XPNPEP2 HGNC Symbol protein_coding 30564 ENSG00000122121 ENSE00000828162 splice_region_variant 0.715933 0.17742 0.05646 0 0.601373946273732 0.102301 1.69204692246069e-06 FALSE 3.91968e-05 ENSE00000828162_013 ENSE00000828162 013 X 128887090 128887259 + 45 90 35 C G 128887231 1021 142 CCCAAAAGGCCATGTCTGCCTGAACGTGCACTTACGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCCTGTTGGGGGCAGGGAGGAGAAAAGGAGGTCTGGGGGCACAGGTC 129753113 129753283 129753254 129753255 129753255 downstr_intron 7 1.20588235294118 GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTGCACGTTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG mutant NA NA NA NA NA 60 28 1 1 1 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 NA NA 0.0779214264265308 0.00623854816309677 0.987700083559261 0.957920012705186 NA 0.0420799872948138 NA FALSE NA 0.078 0.005 . splice_region_variant&intron_variant LOW XPNPEP2 HGNC 12823 ENST00000371106 11/20 1 NA TCC C 8.237e-06 X:129753255 XPNPEP2 HGNC Symbol protein_coding 30564 ENSG00000122121 ENSE00000828162 splice_region_variant 1.256292 0.7245 0.02761 0 0.812474447219015 0.349549 1.69204692246069e-06 FALSE 5.60673e-06 ENSE00000828162_014 ENSE00000828162 014 X 128887090 128887259 + 45 90 35 C T 128887232 1022 143 CCCAAAAGGCCATGTCTGCCTGAACGTAGACTTACGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCCTGTTGGGGGCAGGGAGGAGAAAAGGAGGTCTGGGGGCACAGGTC 129753113 129753283 129753255 129753256 129753256 downstr_intron 8 1.23529411764706 GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCTACGTTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG mutant NA NA NA NA NA 16 106 1 1 1 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 NA NA 0.0779214264265308 0.00623854816309677 0.987700083559261 0.957920012705186 NA 0.0420799872948138 NA FALSE NA 0.007 0.619 . splice_region_variant&intron_variant LOW XPNPEP2 HGNC 12823 ENST00000371106 11/20 1 NA CCA C 8.237e-06 X:129753256 XPNPEP2 HGNC Symbol protein_coding 30564 ENSG00000122121 ENSE00000828162 splice_region_variant 1.133699 0.63525 0.04465 0 0.643906791645215 0.946641 1.69204692246069e-06 FALSE 5.61066e-06 ENSE00000828162_016 ENSE00000828162 016 X 128887090 128887259 + 45 90 35 G A 128887235 1024 146 CCCAAAAGGCCATGTCTGCCTGAATGTGGACTTACGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCCTGTTGGGGGCAGGGAGGAGAAAAGGAGGTCTGGGGGCACAGGTC 129753113 129753283 129753258 129753259 129753259 downstr_intron 11 1.32352941176471 GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACATTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG mutant NA NA NA NA NA 124 424 1 0.998092552397238 0.999046276198619 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 NA NA 0.0779214264265308 0.00433110056033448 0.987700083559261 0.957920012705186 NA 0.0411262634934326 NA FALSE NA 0 -0.607 . intron_variant MODIFIER XPNPEP2 HGNC 12823 ENST00000371106 11/20 rs371917461 1 NA A:0 A:0.0001 CGT G 8.237e-06 X:129753259 XPNPEP2 HGNC Symbol protein_coding 30564 ENSG00000122121 ENSE00000828162 intron_variant -0.191054 0.07369 0.0074 0 0.701771515128472 0.0698953 1.69204692246069e-06 FALSE 5.6117e-06 ENSE00000828162_BRK ENSE00000828162 BRK X 128887090 128887259 + 45 90 35 A,G; T,T NA NA NA CCCAAAAGGCCATGTCTGCCTGAACGTGGACTTGGGTGGCTGGCCTTGAGGAGGGCCTGCTCCTTGCTGTTCTTCACTGCCTTGGTCATCATCACTGGGGAGTAGGTGTCTGTCACGAGTTTCTCAAGTTGGGGGCAGGGAGGAGAAAAGGAGGTCTGGGGGCACAGGTC 129753113 129753283 NA NA NA NA NA NA GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACTTGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACCCAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG GACCTGTGCCCCCAGACCTCCTTTTCTCCTCCCTGCCCCCAACAGGAGAAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAGGAGCAGGCCCTCCTCAAGGCCAGCCACGTAAGTCCACGTTCAGGCAGACATGGCCTTTTGGG control 77 92 0.0169969945624249 0 0.00849849728121244 NA NA NA NA NA 0.982078550231727 0.993321616886794 0.922078573573469 0.993761451836903 -0.965081555669303 -0.993321616886794 NA NA 0.987700083559261 0.957920012705186 -0.979201586278049 NA NA NA TRUE NA NA NA NA NA XPNPEP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPNPEP2 NA NA NA ENSG00000122121 ENSE00000828162 NA NA NA NA NA NA NA 1.69204692246069e-06 FALSE NA ENSE00000828264_000 ENSE00000828264 000 5 35025835 35026004 - 33 93 44 NA NA NA NA NA GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 NA NA NA NA NA NA GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG natural 248 414 0.860455213394584 0.85 0.855227606697292 465 811 0.890651107173895 0.935258483198457 0.912954795186176 0.860455213394584 0.85 0.890651107173895 0.935258483198457 0 0 0 0 0.855227606697292 0.912954795186176 0 0 0 FALSE FALSE NA NA NA NA NA AGXT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AGXT2 NA NA NA ENSG00000113492 ENSE00000828264 NA NA NA NA NA NA NA 4.66554613813699e-15 FALSE NA ENSE00000828264_002 ENSE00000828264 002 5 35025835 35026004 - 33 93 44 C T 35025856 490 149 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATATAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025750 35025751 35025751 downstr_intron 12 1.375 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATATAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 188 727 0.998900323905053 0.965142838620107 0.98202158126258 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA 0.108249216731158 0.0298843554216505 0.855227606697292 0.912954795186176 NA 0.069066786076404 NA FALSE NA 0 -0.948 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 9/12 rs536847411 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACA C,T 8.237e-06 5:35025751 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 intron_variant 1.157174 0.19494 0.01967 0.06567 0.769299876196163 0.0862078 4.66554613813699e-15 FALSE NA ENSE00000828264_004 ENSE00000828264 004 5 35025835 35026004 - 33 93 44 T C 35025865 492 140 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTGAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025759 35025760 35025760 downstr_intron 3 1.09375 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTGAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 47 205 0 0 0 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.890651107173895 -0.935258483198457 0.855227606697292 0.912954795186176 NA -0.912954795186176 NA TRUE NA 0.926 0.049 . splice_region_variant&intron_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 9/12 rs550132836 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TTA T,C 8.237e-06 5:35025760 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 splice_region_variant 1.402844 0.95724 0.18223 0.06567 0.909265206981336 0.504254 4.66554613813699e-15 FALSE 1.21885e-05 ENSE00000828264_006 ENSE00000828264 006 5 35025835 35026004 - 33 93 44 T C 35025874 494 131 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCGGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025768 35025769 35025769 exon -7 0.935483870967742 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCGGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 52 144 0.982101488758806 1 0.991050744379403 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA 0.0914503815849106 0.0647415168015433 0.855227606697292 0.912954795186176 NA 0.0780959491932269 NA FALSE NA 0 -3.794 . synonymous_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 9/13 rs368238161 1 NA C:0.0002 C:0 CTG T,C 8.236e-06 5:35025769 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 synonymous_variant 0.131577 0.27712 0.02282 0.446893 0.532930413282424 0 4.66554613813699e-15 FALSE NA ENSE00000828264_008 ENSE00000828264 008 5 35025835 35026004 - 33 93 44 C A 35025876 496 129 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTTCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025770 35025771 35025771 exon -9 0.913978494623656 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTTCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 59 26 0.824304716511476 0.95 0.887152358255738 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.0663463906624197 0.0147415168015432 0.855227606697292 0.912954795186176 NA -0.0258024369304382 NA FALSE NA 0.982 1.716 . missense_variant&NMD_transcript_variant MODERATE AGXT2 HGNC 14412 ENST00000510428 9/13 1 tolerated(0.17) possibly_damaging(0.646) NA GCA C,A 8.236e-06 5:35025771 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 missense_variant 2.622438 0.97932 0.81683 0.446893 0.996282730151415 0 4.66554613813699e-15 FALSE 4.06213e-06 ENSE00000828264_011 ENSE00000828264 011 5 35025835 35026004 - 33 93 44 C T 35025888 499 117 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAAGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025782 35025783 35025783 exon -21 0.78494623655914 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAAGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 692 26 0.903748591613185 0.946579227405252 0.925163909509219 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA 0.0130974844392897 0.0113207442067957 0.855227606697292 0.912954795186176 NA 0.0122091143230427 NA FALSE NA 1 6.383 . missense_variant&NMD_transcript_variant MODERATE AGXT2 HGNC 14412 ENST00000510428 9/13 rs371386767 1 deleterious(0) probably_damaging(1) NA T:0.0002 T:0 CCT C,T 1.647e-05 5:35025783 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 missense_variant 5.799051 0.98754 0.95323 0.446893 0.996563857750734 0 4.66554613813699e-15 FALSE 1.21854e-05 ENSE00000828264_016 ENSE00000828264 016 5 35025835 35026004 - 33 93 44 C T 35025904 504 101 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTAGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025798 35025799 35025799 exon -37 0.612903225806452 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTAGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 26 154 0 0.0047839350270719 0.00239196751353595 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.890651107173895 -0.930474548171385 0.855227606697292 0.912954795186176 NA -0.91056282767264 NA TRUE NA 1 0.552 . synonymous_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 9/13 1 NA CCA C,T 1.647e-05 5:35025799 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 synonymous_variant 1.109602 0.96946 0.62863 0.446893 0.638478799476944 0 4.66554613813699e-15 FALSE 1.62471e-05 ENSE00000828264_018 ENSE00000828264 018 5 35025835 35026004 - 33 93 44 C T 35025915 506 90 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAACCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025809 35025810 35025810 exon 46 0.494623655913978 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAACCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 11 361 0.8 0.800700101554 0.800350050777 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.090651107173895 -0.134558381644457 0.855227606697292 0.912954795186176 NA -0.112604744409176 NA FALSE NA 1 4.417 rs142689968 missense_variant&NMD_transcript_variant MODERATE AGXT2 HGNC 14412 ENST00000510428 9/13 rs142689968 1 tolerated(0.1) possibly_damaging(0.823) NA T:0.0002 T:0 GCT C,T 8.236e-06 5:35025810 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 missense_variant 5.974292 0.99241 0.9332 0.446893 0.998989824342155 0 4.66554613813699e-15 FALSE 4.06167e-06 ENSE00000828264_022 ENSE00000828264 022 5 35025835 35026004 - 33 93 44 C G 35025950 510 55 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGCAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025844 35025845 35025845 exon 11 0.118279569892473 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGCAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 841 25 0.935282616174777 0.937571633614984 0.936427124894881 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA 0.0446315090008823 0.00231315041652702 0.855227606697292 0.912954795186176 NA 0.0234723297087047 NA FALSE NA 1 6.341 . missense_variant&NMD_transcript_variant MODERATE AGXT2 HGNC 14412 ENST00000510428 9/13 1 deleterious(0.01) probably_damaging(1) NA TCC C,G 8.236e-06 5:35025845 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 missense_variant 5.693959 0.98745 0.98415 0.446893 0.997560990647323 0 4.66554613813699e-15 FALSE 4.06207e-06 ENSE00000828264_024 ENSE00000828264 024 5 35025835 35026004 - 33 93 44 T A 35025953 512 52 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGATTGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025847 35025848 35025848 exon 8 0.0860215053763441 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGATTGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 413 17 0.888447304983891 0.8 0.844223652491945 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.00220380219000449 -0.135258483198457 0.855227606697292 0.912954795186176 NA -0.0687311426942306 NA FALSE NA 1 2.326 . missense_variant&NMD_transcript_variant MODERATE AGXT2 HGNC 14412 ENST00000510428 9/13 1 tolerated(0.16) probably_damaging(0.978) NA ATT T,A 2.471e-05 5:35025848 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 missense_variant 6.086561 0.97912 0.92996 0.446893 0.990548402261318 0 4.66554613813699e-15 FALSE 8.12394e-06 ENSE00000828264_030 ENSE00000828264 030 5 35025835 35026004 - 33 93 44 A G 35025965 518 40 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTCGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025859 35025860 35025860 upstr_intron -5 -0.0909090909090909 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTCGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 938 29 0 0 0 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.890651107173895 -0.935258483198457 0.855227606697292 0.912954795186176 NA -0.912954795186176 NA TRUE NA 1 3.419 . splice_region_variant&intron_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 8/12 1 NA CAA A,G 8.236e-06 5:35025860 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 splice_region_variant 1.822425 0.98204 0.90299 0.06567 0.946263573124951 0.966784 4.66554613813699e-15 FALSE 4.06415e-06 ENSE00000828264_031 ENSE00000828264 031 5 35025835 35026004 - 33 93 44 A G 35025968 519 37 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCCTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025862 35025863 35025863 upstr_intron -8 -0.159090909090909 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCCTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 280 242 0.00136874665825692 0.00151384608986613 0.00144129637406153 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.889282360515638 -0.933744637108591 0.855227606697292 0.912954795186176 NA -0.911513498812114 NA TRUE NA 0.997 4.727 . splice_region_variant&intron_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 8/12 1 NA AAG A,G 8.236e-06 5:35025863 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 splice_region_variant 0.718053 0.23009 0.58419 0.06567 0.812658580540307 0.423925 4.66554613813699e-15 FALSE 4.06491e-06 ENSE00000828264_032 ENSE00000828264 032 5 35025835 35026004 - 33 93 44 C T 35025971 520 34 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGATCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025865 35025866 35025866 upstr_intron -11 -0.227272727272727 GCTGATGCTATTATTATAGGTCTTCTTGGTCTGATCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 93 2295 0.996405222194216 0.978106806733053 0.987256014463635 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA 0.105754115020321 0.042848323534596 0.855227606697292 0.912954795186176 NA 0.0743012192774586 NA FALSE NA 0.01 -0.267 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 8/12 1 NA ACC C,T 1.647e-05 5:35025866 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 non_coding_transcript_exon_variant 1.51016 0.26055 0.06554 0.06567 0.650521459165806 0.353335 4.66554613813699e-15 FALSE 1.21971e-05 ENSE00000828264_034 ENSE00000828264 034 5 35025835 35026004 - 33 93 44 A G 35025978 522 27 GCTGATGCTATTATTATAGGTCTTCTCGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025872 35025873 35025873 upstr_intron -18 -0.386363636363636 GCTGATGCTATTATTATAGGTCTTCTCGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 484 57 0.82566107031477 0.994409779370317 0.910035424842544 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.0649900368591254 0.0591512961718604 0.855227606697292 0.912954795186176 NA -0.00291937034363249 NA FALSE NA 0 0.54 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 8/12 rs368199202 1 NA G:0.0002 G:0 CAA A,G 2.471e-05 5:35025873 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 non_coding_transcript_exon_variant 1.052532 0.22673 0.09438 0.06567 0.817170951997741 0.291823 4.66554613813699e-15 FALSE 1.62759e-05 ENSE00000828264_035 ENSE00000828264 035 5 35025835 35026004 - 33 93 44 G A 35025980 523 25 GCTGATGCTATTATTATAGGTCTTTTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025874 35025875 35025875 upstr_intron -20 -0.431818181818182 GCTGATGCTATTATTATAGGTCTTTTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 600 681 0.851391254007843 0.949771175606658 0.900581214807251 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA -0.0392598531660519 0.014512692408201 0.855227606697292 0.912954795186176 NA -0.0123735803789254 NA FALSE NA 0.195 0.937 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 8/12 rs201500604 1 A:0.0010 A:0.0038 A:0 NA A:0 A:0 A:0 A:0.0043 A:0 AGA G,A 0.0003624 5:35025875 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 non_coding_transcript_exon_variant 1.021711 0.16759 0.03448 0.06567 0.646743251531361 0.291823 4.66554613813699e-15 FALSE 0.000240154 ENSE00000828264_036 ENSE00000828264 036 5 35025835 35026004 - 33 93 44 A G 35025988 524 17 GCTGATGCTATTATTACAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 35025882 35025883 35025883 upstr_intron -28 -0.613636363636364 GCTGATGCTATTATTACAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG mutant NA NA NA NA NA 72 318 0.988608218878264 0.987895897901919 0.988252058390091 0.860455213394584 0.85 0.890651107173895 0.935258483198457 NA NA 0.0979571117043684 0.0526374147034622 0.855227606697292 0.912954795186176 NA 0.0752972632039153 NA FALSE NA 0 -1.125 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 8/12 rs372014007 1 NA TAT A,G 8.237e-06 5:35025883 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00000828264 non_coding_transcript_exon_variant 1.61853 0.14252 0.00941 0.06567 0.839107866432234 0.247414 4.66554613813699e-15 FALSE NA ENSE00000828264_BRK ENSE00000828264 BRK 5 35025835 35026004 - 33 93 44 A,G; T,T NA NA NA GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCTTGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAACCAAGTGGCATGTAAGGGTGCCATTGAGTGCAG 35025729 35025899 NA NA NA NA NA NA GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCTTGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAACCAAGTGGCATGTAAGGGTGCCATTGAGTGCAG GCTGATGCTATTATTATAGGTCTTCTTGGTCTGGTCTTTTGCAGGGTGTGAATGGAGTTGTCCAGTACCCAAAGGGGTTTCTAAAGGAAGCCTTTGAGCTGGTGCGAGCAAGGGGAGGCGTGTGCATTGCAGATGAAGTAAGTGGCATGTAAGGGTGCCATTGAGTGCAG control 29 10 0.727601078991568 0.85 0.788800539495784 112 307 0 0.00104340406470989 0.000521702032354943 0.860455213394584 0.85 0.890651107173895 0.935258483198457 -0.132854134403016 0 -0.890651107173895 -0.934215079133747 0.855227606697292 0.912954795186176 -0.066427067201508 -0.912433093153821 0.846006025952313 TRUE FALSE NA NA NA NA NA AGXT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AGXT2 NA NA NA ENSG00000113492 ENSE00000828264 NA NA NA NA NA NA NA 4.66554613813699e-15 FALSE NA ENSE00000829191_000 ENSE00000829191 000 1 160805935 160806104 - 50 60 60 NA NA NA NA NA ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 NA NA NA NA NA NA ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC natural 73 172 0.962531058537429 0.856240540454687 0.909385799496058 5282 4540 0.729907182736855 0.862510601209294 0.796208891973074 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 0 0 0 0 0.909385799496058 0.796208891973074 0 0 0 FALSE FALSE NA NA NA NA NA CD244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD244 NA NA NA ENSG00000122223 ENSE00000829191 NA NA NA NA NA NA NA 0.00174717204516475 FALSE NA ENSE00000829191_001 ENSE00000829191 001 1 160805935 160806104 - 50 60 60 A G 160805950 4021 155 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCCATCTCTGGGGTTTCC 160836144 160836314 160836159 160836160 160836160 downstr_intron 35 1.71428571428571 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCCATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 440 152 0.997380335781336 0.99641592951019 0.996898132645763 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.267473153044481 0.133905328300896 0.909385799496058 0.796208891973074 NA 0.200689240672689 NA FALSE NA 0 -0.263 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 6/8 1 NA TAG A,G 8.237e-06 1:160836160 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant 0.02125 0.07165 0.00737 0.074388 0.765556433345163 0.0711724 0.00174717204516475 FALSE 4.07551e-06 ENSE00000829191_002 ENSE00000829191 002 1 160805935 160806104 - 50 60 60 G T 160805956 4022 149 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCAATACCTATCTCTGGGGTTTCC 160836144 160836314 160836165 160836166 160836166 downstr_intron 29 1.59183673469388 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCAATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 172 505 0.986376768372695 0.98750310194502 0.986939935158857 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.256469585635839 0.124992500735726 0.909385799496058 0.796208891973074 NA 0.190731043185783 NA FALSE NA 0 -1.32 rs187742573 intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 6/8 rs187742573 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 TGG G,T 7.413e-05 1:160836166 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.399239 0.07294 0.01314 0.074898 0.365311642881282 0.0711724 0.00174717204516475 FALSE 5.2907e-05 ENSE00000829191_003 ENSE00000829191 003 1 160805935 160806104 - 50 60 60 T G 160805960 4023 145 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCCTTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836169 160836170 160836170 downstr_intron 25 1.51020408163265 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCCTTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 749 206 0.999945042758559 0.990439799658446 0.995192421208502 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.270037860021704 0.127929198449152 0.909385799496058 0.796208891973074 NA 0.198983529235428 NA FALSE NA 0 -0.338 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 6/8 1 NA ATG T,G 8.236e-06 1:160836170 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant 0.191918 0.06805 0.01085 0.074898 0.522102364110057 0.0549323 0.00174717204516475 FALSE 8.13498e-06 ENSE00000829191_004 ENSE00000829191 004 1 160805935 160806104 - 50 60 60 C G 160805964 4024 141 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTACTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836173 160836174 160836174 downstr_intron 21 1.42857142857143 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTACTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 25 1656 1 0.99856231643421 0.999281158217105 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.270092817263145 0.136051715224917 0.909385799496058 0.796208891973074 NA 0.203072266244031 NA FALSE NA 0 -0.237 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 6/8 1 NA ACT C,G 8.236e-06 1:160836174 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.10676 0.06866 0.01011 0.074898 0.500519507698814 0.0549323 0.00174717204516475 FALSE 4.0665e-06 ENSE00000829191_005 ENSE00000829191 005 1 160805935 160806104 - 50 60 60 G A 160805975 4025 130 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCTAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836184 160836185 160836185 downstr_intron 10 1.20408163265306 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCTAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 306 404 1 1 1 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.270092817263145 0.137489398790706 0.909385799496058 0.796208891973074 NA 0.203791108026926 NA FALSE NA 0 -0.261 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 6/8 1 NA TGG G,A 8.236e-06 1:160836185 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.186102 0.04679 0.00091 0.074898 0.173976271259908 0.0549323 0.00174717204516475 FALSE 8.12896e-06 ENSE00000829191_006 ENSE00000829191 006 1 160805935 160806104 - 50 60 60 G C 160805976 4026 129 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTGCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836185 160836186 160836186 downstr_intron 9 1.18367346938776 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTGCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 242 1531 1 0.994694422441022 0.997347211220511 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.270092817263145 0.132183821231728 0.909385799496058 0.796208891973074 NA 0.201138319247437 NA FALSE NA 0 0.033 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 6/8 1 NA GGA G,C 0.0001647 1:160836186 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.485639 0.09995 0.03359 0.074898 0.339983614061601 0.0631375 0.00174717204516475 FALSE 0.000178823 ENSE00000829191_007 ENSE00000829191 007 1 160805935 160806104 - 50 60 60 A G 160805979 4027 126 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCCCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836188 160836189 160836189 downstr_intron 6 1.12244897959184 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCCCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 80 61 0.884253849010381 0.771364128879179 0.82780898894478 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.154346666273526 -0.0911464723301145 0.909385799496058 0.796208891973074 NA 0.0316000969717055 NA FALSE NA 0 -1.952 . splice_region_variant&intron_variant&NMD_transcript_variant LOW CD244 HGNC 18171 ENST00000492063 6/8 rs530743583 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GAG A,G 8.236e-06 1:160836189 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 splice_region_variant -0.494287 0.07453 0.00536 0.074898 0.479648465564133 0.102834 0.00174717204516475 FALSE 8.12764e-06 ENSE00000829191_008 ENSE00000829191 008 1 160805935 160806104 - 50 60 60 A T 160806000 4028 105 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCAATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836209 160836210 160836210 exon -16 0.75 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCAATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 1496 504 0.950258840039743 0.998398365552853 0.974328602796298 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.220351657302888 0.135887764343559 0.909385799496058 0.796208891973074 NA 0.178119710823224 NA FALSE NA 0.012 -0.377 . synonymous_variant&NMD_transcript_variant LOW CD244 HGNC 18171 ENST00000492063 6/9 1 NA TAG A,T 8.236e-06 1:160836210 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 synonymous_variant -1.227531 0.07771 0.01108 0.559995 0.487664092562749 0 0.00174717204516475 FALSE 8.12579e-06 ENSE00000829191_009 ENSE00000829191 009 1 160805935 160806104 - 50 60 60 G A 160806001 4029 104 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTTTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836210 160836211 160836211 exon -17 0.733333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTTTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 240 253 0.980268632510973 1 0.990134316255487 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.250361449774118 0.137489398790706 0.909385799496058 0.796208891973074 NA 0.193925424282412 NA FALSE NA 0.96 1.925 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160836211 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant 4.818501 0.71866 0.59542 0.559995 0.995519617002272 0 0.00174717204516475 FALSE 4.06303e-06 ENSE00000829191_010 ENSE00000829191 010 1 160805935 160806104 - 50 60 60 G C 160806001 4030 104 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTGTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836210 160836211 160836211 exon -17 0.733333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTGTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 1065 202 0.996549091445268 0.994282885367254 0.995415988406261 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.266641908708413 0.13177228415796 0.909385799496058 0.796208891973074 NA 0.199207096433187 NA FALSE NA 0.96 1.925 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00000829191 missense_variant 4.398534 0.72775 0.65034 0.559995 0.987084259541174 0 9.99009541070118e-18 FALSE 4.06303e-06 ENSE00000829191_011 ENSE00000829191 011 1 160805935 160806104 - 50 60 60 G T 160806001 4031 104 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTATATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836210 160836211 160836211 exon -17 0.733333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTATATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 37 861 0.946258289654634 0.996042202786984 0.971150246220809 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.216351106917779 0.13353160157769 0.909385799496058 0.796208891973074 NA 0.174941354247734 NA FALSE NA 0.96 1.925 NA NA NA CD244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD244 NA NA NA ENSG00000122223 ENSE00000829191 missense_variant 2.865015 0.72166 0.61833 0.559995 0.992918692213032 0 0.00174717204516475 FALSE 4.06303e-06 ENSE00000829191_012 ENSE00000829191 012 1 160805935 160806104 - 50 60 60 T A 160806004 4032 101 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTTCTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836213 160836214 160836214 exon -20 0.683333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTTCTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant 21 15 0.85 0.85 0.85 894 673 0.989188150104488 0.988860239803449 0.989024194953968 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 -0.112531058537429 -0.00624054045468658 0.259280967367633 0.126349638594156 0.909385799496058 0.796208891973074 -0.0593857994960578 0.192815302980894 0.252201102476952 FALSE FALSE 1 2.656 . missense_variant&NMD_transcript_variant MODERATE CD244 HGNC 18171 ENST00000492063 6/9 1 deleterious(0) probably_damaging(0.997) NA GTA T,A 1.647e-05 1:160836214 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant 5.703295 0.93742 0.7623 0.559995 0.980473416694761 0 0.00174717204516475 FALSE 1.62529e-05 ENSE00000829191_013 ENSE00000829191 013 1 160805935 160806104 - 50 60 60 G T 160806006 4033 99 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATATACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836215 160836216 160836216 exon -22 0.65 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATATACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 3598 927 0.952959266893789 0.894884462443536 0.923921864668662 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.223052084156934 0.032373861234242 0.909385799496058 0.796208891973074 NA 0.127712972695588 NA FALSE NA 1 0.126 . synonymous_variant&NMD_transcript_variant LOW CD244 HGNC 18171 ENST00000492063 6/9 1 NA AGA G,T 8.236e-06 1:160836216 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 synonymous_variant 0.750227 0.89304 0.4915 0.559995 0.694323484017977 0 0.00174717204516475 FALSE 4.06326e-06 ENSE00000829191_014 ENSE00000829191 014 1 160805935 160806104 - 50 60 60 T C 160806008 4034 97 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCGTCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836217 160836218 160836218 exon -24 0.616666666666667 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCGTCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 389 190 1 0.974081695512076 0.987040847756038 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.270092817263145 0.111571094302782 0.909385799496058 0.796208891973074 NA 0.190831955782964 NA FALSE NA 1 1.369 . missense_variant&NMD_transcript_variant MODERATE CD244 HGNC 18171 ENST00000492063 6/9 1 tolerated(0.11) possibly_damaging(0.671) NA ATG T,C 8.236e-06 1:160836218 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant 1.016177 0.887 0.54372 0.559995 0.960484804098225 0 0.00174717204516475 FALSE 1.62528e-05 ENSE00000829191_015 ENSE00000829191 015 1 160805935 160806104 - 50 60 60 G A 160806009 4035 96 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACTATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836218 160836219 160836219 exon -25 0.6 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACTATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant 90 110 0.85 0.85 0.85 1210 719 0.805537555670006 0.887928299615853 0.84673292764293 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 -0.112531058537429 -0.00624054045468658 0.0756303729331513 0.0254176984065594 0.909385799496058 0.796208891973074 -0.0593857994960578 0.0505240356698554 0.109909835165913 FALSE FALSE 1 1.911 . synonymous_variant&NMD_transcript_variant LOW CD244 HGNC 18171 ENST00000492063 6/9 1 NA TGG G,A 8.236e-06 1:160836219 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 synonymous_variant 0.730183 0.91019 0.65197 0.559995 0.555678593642602 0 0.00174717204516475 FALSE 4.06326e-06 ENSE00000829191_017 ENSE00000829191 017 1 160805935 160806104 - 50 60 60 C T 160806017 4037 88 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGAGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836226 160836227 160836227 exon 28 0.466666666666667 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGAGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 3749 1457 0.990161801752139 0.997662853260099 0.993912327506119 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.260254619015284 0.135152252050806 0.909385799496058 0.796208891973074 NA 0.197703435533045 NA FALSE NA 0 -0.472 . missense_variant&NMD_transcript_variant MODERATE CD244 HGNC 18171 ENST00000492063 6/9 1 tolerated(0.06) possibly_damaging(0.755) NA CCC C,T 1.647e-05 1:160836227 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant 2.647927 0.08948 0.01187 0.559995 0.98667907456228 0 0.00174717204516475 FALSE 2.03209e-05 ENSE00000829191_018 ENSE00000829191 018 1 160805935 160806104 - 50 60 60 C G 160806019 4038 86 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGCGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836228 160836229 160836229 exon 26 0.433333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGCGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 891 180 0.998448482184189 0.998506142350754 0.998477312267472 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.268541299447334 0.135995541141461 0.909385799496058 0.796208891973074 NA 0.202268420294397 NA FALSE NA 0.001 0.352 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160836229 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant -1.062451 0.09196 0.01195 0.559995 0.162030296964351 0 0.00174717204516475 FALSE 0.0182605 ENSE00000829191_019 ENSE00000829191 019 1 160805935 160806104 - 50 60 60 C A 160806019 4039 86 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGTGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836228 160836229 160836229 exon 26 0.433333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGTGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 90 685 0.985338665215113 0.997517393987695 0.991428029601404 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.255431482478258 0.135006792778402 0.909385799496058 0.796208891973074 NA 0.19521913762833 NA FALSE NA 0.001 0.352 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00000829191 missense_variant 0.105147 0.09975 0.0133 0.559995 0.215326445803177 0 NA NA 8.53485e-05 ENSE00000829191_020 ENSE00000829191 020 1 160805935 160806104 - 50 60 60 C T 160806019 4040 86 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGAGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836228 160836229 160836229 exon 26 0.433333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGAGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 395 1374 1 0.921186032308265 0.960593016154133 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.270092817263145 0.0586754310989712 0.909385799496058 0.796208891973074 NA 0.164384124181058 NA FALSE NA 0.001 0.352 NA NA NA CD244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD244 NA NA NA ENSG00000122223 ENSE00000829191 missense_variant -1.622655 0.03006 0.00026 0.559995 0.276342885691171 0 0.00174717204516475 FALSE 4.06421e-05 ENSE00000829191_021 ENSE00000829191 021 1 160805935 160806104 - 50 60 60 C A 160806020 4041 85 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGATGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836229 160836230 160836230 exon 25 0.416666666666667 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGATGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 242 27 0.997125981743316 1 0.998562990871658 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.267218799006461 0.137489398790706 0.909385799496058 0.796208891973074 NA 0.202354098898584 NA FALSE NA 0.001 0.721 . missense_variant&NMD_transcript_variant MODERATE CD244 HGNC 18171 ENST00000492063 6/9 1 deleterious(0) possibly_damaging(0.882) NA CCT C,A 8.236e-06 1:160836230 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant 3.99413 0.10922 0.05804 0.559995 0.975420012657684 0 0.00174717204516475 FALSE 4.06415e-06 ENSE00000829191_022 ENSE00000829191 022 1 160805935 160806104 - 50 60 60 G A 160806025 4042 80 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCTTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836234 160836235 160836235 exon 20 0.333333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCTTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 643 669 0.988656137489428 0.981526813676668 0.985091475583048 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.258748954752573 0.119016212467374 0.909385799496058 0.796208891973074 NA 0.188882583609973 NA FALSE NA 0 0.109 rs191721381 missense_variant&NMD_transcript_variant MODERATE CD244 HGNC 18171 ENST00000492063 6/9 rs191721381 1 tolerated(0.15) benign(0.045) A:0.0006 A:0 A:0.0043 NA A:0 A:0 A:0 A:0 A:0.0001 AGG G,A 4.118e-05 1:160836235 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant -0.640942 0.07116 0.02576 0.559995 0.402004596451889 0 0.00174717204516475 FALSE 2.03237e-05 ENSE00000829191_023 ENSE00000829191 023 1 160805935 160806104 - 50 60 60 G C 160806031 4043 74 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGAGTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836240 160836241 160836241 exon 14 0.233333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGAGTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 452 109 0.994495030994364 0.995328035267577 0.99491153313097 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.264587848257509 0.132817434058283 0.909385799496058 0.796208891973074 NA 0.198702641157896 NA FALSE NA 0.001 -0.193 NA NA NA CD244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160836241 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant -2.04126 0.09036 0.00998 0.559995 0.301881417166287 0 0.00174717204516475 FALSE 5.69129e-05 ENSE00000829191_025 ENSE00000829191 025 1 160805935 160806104 - 50 60 60 T G 160806034 4045 71 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCCGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836243 160836244 160836244 exon 11 0.183333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCCGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 695 482 0.995501716299709 1 0.997750858149854 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.265594533562854 0.137489398790706 0.909385799496058 0.796208891973074 NA 0.20154196617678 NA FALSE NA 0 -0.636 . missense_variant&NMD_transcript_variant MODERATE CD244 HGNC 18171 ENST00000492063 6/9 rs566899241 1 tolerated(0.13) benign(0.187) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTG T,G 1.647e-05 1:160836244 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant -0.428932 0.07045 0.0106 0.559995 0.918897014942506 0 0.00174717204516475 FALSE 8.13352e-06 ENSE00000829191_027 ENSE00000829191 027 1 160805935 160806104 - 50 60 60 C T 160806038 4047 67 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGAAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836247 160836248 160836248 exon 7 0.116666666666667 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGAAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 758 1082 1 0.90697989643574 0.95348994821787 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.270092817263145 0.0444692952264458 0.909385799496058 0.796208891973074 NA 0.157281056244795 NA FALSE NA 0 -2.09 . missense_variant&NMD_transcript_variant MODERATE CD244 HGNC 18171 ENST00000492063 6/9 1 tolerated(0.3) benign(0.081) NA TCC C,T 8.236e-06 1:160836248 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 missense_variant -0.174219 0.04041 0.00317 0.559995 0.546836232041791 0 0.00174717204516475 FALSE 4.06752e-06 ENSE00000829191_028 ENSE00000829191 028 1 160805935 160806104 - 50 60 60 G C 160806065 4048 40 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCGCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836274 160836275 160836275 upstr_intron -21 -0.333333333333333 ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCGCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 1471 315 0.998685837570752 0.987514046571684 0.993099942071218 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.268778654833897 0.12500344536239 0.909385799496058 0.796208891973074 NA 0.196891050098144 NA FALSE NA 0 -0.026 rs183812847 intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 5/8 rs183812847 1 C:0.0034 C:0 C:0 NA C:0.0159 C:0 C:0.001 C:0.0005 C:0 GGG G,C 0.00117 1:160836275 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.131834 0.10108 0.0484 0.074388 0.672131450907437 0.046323 0.00174717204516475 FALSE 0.00111928 ENSE00000829191_030 ENSE00000829191 030 1 160805935 160806104 - 50 60 60 T A 160806073 4050 32 ATCTAAATCTGGACAGACCGAACTGTCGCTCTTGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836282 160836283 160836283 upstr_intron -29 -0.466666666666667 ATCTAAATCTGGACAGACCGAACTGTCGCTCTTGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 1773 1565 0.825979248521445 0.946729967085999 0.886354607803722 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.0960720657845903 0.084219365876705 0.909385799496058 0.796208891973074 NA 0.0901457158306476 NA FALSE NA 0 -0.116 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 5/8 1 NA ATG T,A 8.237e-06 1:160836283 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant 0.564144 0.08342 0.01981 0.074388 0.83656554582168 0.046323 0.00174717204516475 FALSE 8.20546e-06 ENSE00000829191_032 ENSE00000829191 032 1 160805935 160806104 - 50 60 60 C G 160806077 4052 28 ATCTAAATCTGGACAGACCGAACTGTCCCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836286 160836287 160836287 upstr_intron -33 -0.533333333333333 ATCTAAATCTGGACAGACCGAACTGTCCCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 975 295 0.994716124944245 0.985620656841248 0.990168390892746 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.26480894220739 0.123110055631954 0.909385799496058 0.796208891973074 NA 0.193959498919672 NA FALSE NA 0 -0.798 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160836287 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant 0.029633 0.07379 0.01908 0.074388 0.719636031500037 0.046323 0.00174717204516475 FALSE 0.00181309 ENSE00000829191_034 ENSE00000829191 034 1 160805935 160806104 - 50 60 60 G T 160806078 4054 27 ATCTAAATCTGGACAGACCGAACTGTAGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836287 160836288 160836288 upstr_intron -34 -0.55 ATCTAAATCTGGACAGACCGAACTGTAGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 1110 193 0.984268009944855 0.989590088899834 0.986929049422344 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.254360827208 0.12707948769054 0.909385799496058 0.796208891973074 NA 0.19072015744927 NA FALSE NA 0 -0.576 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160836288 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.038524 0.06645 0.01312 0.074388 0.78171441301707 0.046323 0.00174717204516475 FALSE 5.37679e-05 ENSE00000829191_035 ENSE00000829191 035 1 160805935 160806104 - 50 60 60 G A 160806078 4055 27 ATCTAAATCTGGACAGACCGAACTGTTGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836287 160836288 160836288 upstr_intron -34 -0.55 ATCTAAATCTGGACAGACCGAACTGTTGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 552 468 0.990344760659996 1 0.995172380329998 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.260437577923141 0.137489398790706 0.909385799496058 0.796208891973074 NA 0.198963488356924 NA FALSE NA 0 -0.576 NA NA NA CD244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD244 NA NA NA ENSG00000122223 ENSE00000829191 intron_variant 0.184083 0.06072 0.01013 0.074388 0.752538967118466 0.046323 0.00174717204516475 FALSE 7.03119e-05 ENSE00000829191_036 ENSE00000829191 036 1 160805935 160806104 - 50 60 60 A G 160806081 4056 24 ATCTAAATCTGGACAGACCGAACCGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836290 160836291 160836291 upstr_intron -37 -0.6 ATCTAAATCTGGACAGACCGAACCGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 989 632 0.999534844513639 0.996873894470439 0.998204369492039 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.269627661776784 0.134363293261145 0.909385799496058 0.796208891973074 NA 0.201995477518964 NA FALSE NA 0 -0.853 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 5/8 1 NA CAG A,G 8.237e-06 1:160836291 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant 0.025449 0.0821 0.0086 0.074388 0.713033725387226 0.048581 0.00174717204516475 FALSE 4.152e-06 ENSE00000829191_037 ENSE00000829191 037 1 160805935 160806104 - 50 60 60 C T 160806085 4057 20 ATCTAAATCTGGACAGACCAAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836294 160836295 160836295 upstr_intron -41 -0.666666666666667 ATCTAAATCTGGACAGACCAAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 1478 907 0.997126346254718 0.985991021661993 0.991558683958356 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.267219163517863 0.123480420452699 0.909385799496058 0.796208891973074 NA 0.195349791985281 NA FALSE NA 0 -0.149 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 5/8 rs373880914 1 NA T:0.0002 T:0 TCG C,T 8.237e-06 1:160836295 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.316099 0.04795 0.0059 0.074388 0.574403162601411 0.048581 0.00174717204516475 FALSE 8.38652e-06 ENSE00000829191_038 ENSE00000829191 038 1 160805935 160806104 - 50 60 60 G A 160806086 4058 19 ATCTAAATCTGGACAGACTGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836295 160836296 160836296 upstr_intron -42 -0.683333333333333 ATCTAAATCTGGACAGACTGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 387 1468 0.999207116870849 0.999061231582848 0.999134174226848 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.269299934133994 0.136550630373554 0.909385799496058 0.796208891973074 NA 0.202925282253774 NA FALSE NA 0 -1.221 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 5/8 rs375811422 1 NA A:0 A:0.0001 CGG G,A 8.237e-05 1:160836296 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.168112 0.0422 0.00348 0.074388 0.604036055703181 0.048581 0.00174717204516475 FALSE 6.75368e-05 ENSE00000829191_039 ENSE00000829191 039 1 160805935 160806104 - 50 60 60 T A 160806090 4059 15 ATCTAAATCTGGACTGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836299 160836300 160836300 upstr_intron -46 -0.75 ATCTAAATCTGGACTGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 223 113 1 1 1 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.270092817263145 0.137489398790706 0.909385799496058 0.796208891973074 NA 0.203791108026926 NA FALSE NA 0.004 0.258 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 5/8 rs370005198 1 NA A:0 A:0.0001 CTG T,A 0.0001236 1:160836300 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.213987 0.07511 0.02069 0.074388 0.474311385001292 0.0941795 0.00174717204516475 FALSE 0.000157279 ENSE00000829191_040 ENSE00000829191 040 1 160805935 160806104 - 50 60 60 C T 160806093 4060 12 ATCTAAATCTGAACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 160836302 160836303 160836303 upstr_intron -49 -0.8 ATCTAAATCTGAACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC mutant NA NA NA NA NA 763 326 0.997176188220168 0.995608483999503 0.996392336109835 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 NA NA 0.267269005483312 0.133097882790209 0.909385799496058 0.796208891973074 NA 0.200183444136761 NA FALSE NA 0 -1.204 . intron_variant&NMD_transcript_variant MODIFIER CD244 HGNC 18171 ENST00000492063 5/8 1 NA TCC C,T 8.237e-06 1:160836303 CD244 HGNC Symbol protein_coding 32695 ENSG00000122223 ENSE00000829191 intron_variant -0.035199 0.07267 0.00878 0.074388 0.62490820511863 0.048581 0.00174717204516475 FALSE 1.28144e-05 ENSE00000829191_BRK ENSE00000829191 BRK 1 160805935 160806104 - 50 60 60 A,G; T,T NA NA NA ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCTTGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGCCACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC 160836144 160836314 NA NA NA NA NA NA ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCTTGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGCCACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC ATCTAAATCTGGACAGACCGAACTGTCGCTCATGTTACCCCATCTCCATTTCTTGTGCAGGAGCAGGAGCAGACTTTTCCTGGAGGGGGGAGCACCATCTACTCTATGATCCAGTCCCAGGTACCTCTCCAGTTTCTCTAGTCCATTCCATACCTATCTCTGGGGTTTCC control 111 10 0 0 0 NA NA NA NA NA 0.962531058537429 0.856240540454687 0.729907182736855 0.862510601209294 -0.962531058537429 -0.856240540454687 NA NA 0.909385799496058 0.796208891973074 -0.909385799496058 NA NA NA TRUE NA NA NA NA NA CD244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD244 NA NA NA ENSG00000122223 ENSE00000829191 NA NA NA NA NA NA NA 0.00174717204516475 FALSE NA ENSE00000831428_000 ENSE00000831428 000 11 70277252 70277421 + 45 90 35 NA NA NA NA NA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 NA NA NA NA NA NA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA natural 33 27 0.999478886986703 1 0.999739443493352 1169 1029 0.995732143104926 0.999846274300985 0.997789208702955 0.999478886986703 1 0.995732143104926 0.999846274300985 0 0 0 0 0.999739443493352 0.997789208702955 0 0 0 FALSE FALSE NA NA NA NA NA CTTN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTTN NA NA NA ENSG00000085733 ENSE00003588443 NA NA NA NA NA NA NA 0.215776882831596 FALSE NA ENSE00000831428_001 ENSE00000831428 001 11 70277252 70277421 + 45 90 35 G A 70277265 1954 14 GAGTGTCATGGCAACATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431158 70431159 70431159 upstr_intron -32 -0.688888888888889 GAGTGTCATGGCAACATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 132 204 1 1 1 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00221079129704466 NA FALSE NA 0 0.146 . intron_variant MODIFIER CTTN HGNC 3338 ENST00000376561 13/18 1 NA AGC G,A 8.236e-06 11:70431159 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 intron_variant 0.138579 0.16255 0.03413 0.162113 0.615449574973697 0.0455939 0.215776882831596 FALSE 4.09604e-06 ENSE00000831428_003 ENSE00000831428 003 11 70277252 70277421 + 45 90 35 A G 70277273 1956 22 GAGTGTCATGGCAGCATTCTGGTTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431166 70431167 70431167 upstr_intron -24 -0.511111111111111 GAGTGTCATGGCAGCATTCTGGTTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 25 205 1 1 1 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00221079129704466 NA FALSE NA 0 -0.196 . intron_variant MODIFIER CTTN HGNC 3338 ENST00000376561 13/18 1 NA GAT A,G 8.236e-06 11:70431167 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 intron_variant 0.32638 0.1973 0.06435 0.162113 0.240218057381083 0.0455939 0.215776882831596 FALSE 4.09353e-06 ENSE00000831428_005 ENSE00000831428 005 11 70277252 70277421 + 45 90 35 G A 70277279 1958 28 GAGTGTCATGGCAGCATTCTGATTGCTATTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431172 70431173 70431173 upstr_intron -18 -0.377777777777778 GAGTGTCATGGCAGCATTCTGATTGCTATTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 62 114 0.978222701818223 0.95 0.964111350909111 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA -0.0175094412867028 -0.049846274300985 0.999739443493352 0.997789208702955 NA -0.0336778577938439 NA FALSE NA 0 -0.207 . intron_variant MODIFIER CTTN HGNC 3338 ENST00000376561 13/18 1 NA TGT G,A 8.236e-06 11:70431173 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 intron_variant -0.106537 0.14146 0.0535 0.162113 0.63542226652035 0.0455939 0.215776882831596 FALSE 1.6361e-05 ENSE00000831428_007 ENSE00000831428 007 11 70277252 70277421 + 45 90 35 G A 70277317 1960 66 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACACAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431210 70431211 70431211 exon 21 0.233333333333333 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACACAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 365 121 1 1 1 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00221079129704466 NA FALSE NA 0.975 0.564 rs138550439 synonymous_variant LOW CTTN HGNC 3338 ENST00000376561 14/19 rs138550439 1 A:0.0006 A:0 A:0 NA A:0 A:0.002 A:0.001 A:0 A:0.0014 CGC G,A 0.001021 11:70431211 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 synonymous_variant 0.92524 0.22909 0.57926 0.706298 0.406279982379917 0 0.215776882831596 FALSE 0.000979192 ENSE00000831428_008 ENSE00000831428 008 11 70277252 70277421 + 45 90 35 A G 70277319 1961 68 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCGAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431212 70431213 70431213 exon 23 0.255555555555556 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCGAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 42 197 1 1 1 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00221079129704466 NA FALSE NA 0.855 1.604 rs141534651 missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 rs141534651 1 tolerated(0.07) benign(0.07) G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0023 G:0 CAA A,G 0.0002059 11:70431213 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 0.186073 0.22465 0.7429 0.706298 0.944537082046304 0 0.215776882831596 FALSE 0.000179486 ENSE00000831428_010 ENSE00000831428 010 11 70277252 70277421 + 45 90 35 C T 70277328 1963 77 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCTTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431221 70431222 70431222 exon 32 0.355555555555556 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCTTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 244 491 0.997958303398257 1 0.998979151699129 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00222616029333178 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00118994299617337 NA FALSE NA 0.954 4.789 . missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 rs377644325 1 deleterious(0.01) benign(0.231) NA T:0 T:0.0001 CCT C,T 8.236e-06 11:70431222 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 2.972839 0.32966 0.92235 0.706298 0.951841490698089 0 0.215776882831596 FALSE 4.07887e-06 ENSE00000831428_011 ENSE00000831428 011 11 70277252 70277421 + 45 90 35 G A 70277330 1964 79 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTATGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431223 70431224 70431224 exon 34 0.377777777777778 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTATGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 747 491 0.99994489558249 1 0.999972447791245 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00421275247756459 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00218323908828977 NA FALSE NA 0.001 1.139 . missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 1 tolerated(0.19) possibly_damaging(0.646) NA TGT G,A 8.236e-06 11:70431224 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 1.858996 0.21926 0.35247 0.706298 0.947373341520742 0 0.215776882831596 FALSE NA ENSE00000831428_012 ENSE00000831428 012 11 70277252 70277421 + 45 90 35 T G 70277331 1965 80 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGGGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431224 70431225 70431225 exon 35 0.388888888888889 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGGGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 192 162 1 0.997373303188002 0.998686651594001 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 -0.00247297111298295 0.999739443493352 0.997789208702955 NA 0.000897442891045708 NA FALSE NA 0 -0.445 rs144420116 missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 rs144420116 1 tolerated(0.3) benign(0.08) NA GTG C,G 4.942e-05 11:70431225 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 0.126311 0.24384 0.19849 0.706298 0.739277695096407 0 0.215776882831596 FALSE 2.85532e-05 ENSE00000831428_013 ENSE00000831428 013 11 70277252 70277421 + 45 90 35 C T 70277334 1966 83 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTTGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431227 70431228 70431228 exon 38 0.422222222222222 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTTGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 50 118 0.959945192807506 1 0.979972596403753 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA -0.0357869502974197 0.00015372569901495 0.999739443493352 0.997789208702955 NA -0.0178166122992024 NA FALSE NA 0.995 4.789 rs61885860 missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 rs61885860 1 tolerated(0.16) probably_damaging(0.99) T:0.0040 T:0.0015 T:0 NA T:0.0179 T:0 T:0 T:0.0002 T:0.0001 TCG C,T 0.0009472 11:70431228 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 4.876744 0.94075 0.97044 0.706298 0.982175541690165 0 0.215776882831596 FALSE 0.00103195 ENSE00000831428_014 ENSE00000831428 014 11 70277252 70277421 + 45 90 35 G A 70277335 1967 84 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCACCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431228 70431229 70431229 exon 39 0.433333333333333 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCACCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 515 662 1 0.990566628335611 0.995283314167806 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 -0.00927964596537356 0.999739443493352 0.997789208702955 NA -0.0025058945351496 NA FALSE NA 0.866 -0.383 . synonymous_variant LOW CTTN HGNC 3338 ENST00000376561 14/19 1 NA CGC G,A 1.647e-05 11:70431229 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 synonymous_variant 0.762088 0.85626 0.636 0.706298 0.493389533266331 0 0.215776882831596 FALSE 8.15874e-06 ENSE00000831428_015 ENSE00000831428 015 11 70277252 70277421 + 45 90 35 C T 70277336 1968 85 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGTCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431229 70431230 70431230 exon 40 0.444444444444444 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGTCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 89 10 0.989503936377259 0.824640188481827 0.907072062429543 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA -0.00622820672766633 -0.175206085819159 0.999739443493352 0.997789208702955 NA -0.0907171462734124 NA FALSE NA 0.989 3.251 . missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 1 tolerated(0.08) probably_damaging(0.998) NA GCC C,T 8.236e-06 11:70431230 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 3.499891 0.9103 0.90528 0.706298 0.98269602146311 0 0.215776882831596 FALSE 4.0784e-06 ENSE00000831428_017 ENSE00000831428 017 11 70277252 70277421 + 45 90 35 A C 70277350 1970 99 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCCACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431243 70431244 70431244 exon -37 0.6 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCCACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 19 13 1 1 1 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00221079129704466 NA FALSE NA 0 -1.263 . synonymous_variant LOW CTTN HGNC 3338 ENST00000376561 14/19 1 NA CAA A,C 8.236e-06 11:70431244 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 synonymous_variant -1.31983 0.13984 0.17721 0.706298 0.241596999035752 0 0.215776882831596 FALSE 1.22322e-05 ENSE00000831428_023 ENSE00000831428 023 11 70277252 70277421 + 45 90 35 C T 70277368 1976 117 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCTTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431261 70431262 70431262 exon -19 0.8 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCTTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 174 342 1 1 1 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00221079129704466 NA FALSE NA 0 -6.68 . synonymous_variant LOW CTTN HGNC 3338 ENST00000376561 14/19 1 NA CCT C,T 8.237e-06 11:70431262 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 synonymous_variant 0.778141 0.0968 0.0317 0.706298 0.446033242409471 0 0.215776882831596 FALSE 8.15681e-06 ENSE00000831428_024 ENSE00000831428 024 11 70277252 70277421 + 45 90 35 G A 70277371 1977 120 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCAAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431264 70431265 70431265 exon -16 0.833333333333333 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCAAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 27 56 1 1 1 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00221079129704466 NA FALSE NA 0 -1.674 NA NA NA CTTN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:70431265 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 synonymous_variant 0.716839 0.12297 0.04727 0.706298 0.564473070670931 0 0.215776882831596 FALSE 1.2235e-05 ENSE00000831428_026 ENSE00000831428 026 11 70277252 70277421 + 45 90 35 G A 70277373 1979 122 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAACCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431266 70431267 70431267 exon -14 0.855555555555556 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAACCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 64 20 0.997596884720322 1 0.998798442360161 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00186474161539651 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00100923365720573 NA FALSE NA 1 6.066 . missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 1 tolerated(0.1) probably_damaging(0.985) NA AGC G,A 2.471e-05 11:70431267 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 3.996154 0.94913 0.97943 0.706298 0.985259082511453 0 0.215776882831596 FALSE 1.63163e-05 ENSE00000831428_028 ENSE00000831428 028 11 70277252 70277421 + 45 90 35 C G 70277376 1981 125 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCGCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431269 70431270 70431270 exon -11 0.888888888888889 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCGCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 1325 250 0.948641555906543 0.997822499905911 0.973232027906227 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA -0.0470905871983829 -0.00202377439507451 0.999739443493352 0.997789208702955 NA -0.0245571807967287 NA FALSE NA 0.998 4.8 rs150885686 missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 rs150885686 1 deleterious(0) probably_damaging(0.999) NA G:0 G:0.0002 CCC C,G 1.647e-05 11:70431270 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 3.996963 0.83919 0.95632 0.706298 0.993291213083681 0 0.215776882831596 FALSE 1.63189e-05 ENSE00000831428_029 ENSE00000831428 029 11 70277252 70277421 + 45 90 35 C T 70277377 1982 126 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCTGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431270 70431271 70431271 exon -10 0.9 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCTGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 92 881 1 0.999820443644555 0.999910221822277 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.00426785689507436 -2.583065643047e-05 0.999739443493352 0.997789208702955 NA 0.00212101311932195 NA FALSE NA 0 -2.635 rs139350657 synonymous_variant LOW CTTN HGNC 3338 ENST00000376561 14/19 rs139350657 1 NA T:0.0002 T:0 CCG C,T 5.765e-05 11:70431271 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 synonymous_variant 1.579913 0.11962 0.07347 0.706298 0.495992848867735 0 0.215776882831596 FALSE 5.30413e-05 ENSE00000831428_031 ENSE00000831428 031 11 70277252 70277421 + 45 90 35 A G 70277382 1984 131 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTGTGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431275 70431276 70431276 exon -5 0.955555555555556 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTGTGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 197 767 0.968548721704918 0.847354930620426 0.907951826162672 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA -0.027183421400008 -0.152491343680559 0.999739443493352 0.997789208702955 NA -0.0898373825402833 NA FALSE NA 0.997 4.139 rs146340003 missense_variant MODERATE CTTN HGNC 3338 ENST00000376561 14/19 rs146340003 1 deleterious(0.02) benign(0.004) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAT A,G 1.647e-05 11:70431276 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 missense_variant 2.227048 0.90702 0.939 0.706298 0.988588504671583 0 0.215776882831596 FALSE 1.22436e-05 ENSE00000831428_032 ENSE00000831428 032 11 70277252 70277421 + 45 90 35 G T 70277390 1985 139 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTTGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 70431283 70431284 70431284 downstr_intron 4 1.11764705882353 GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTTGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA mutant NA NA NA NA NA 184 14 0.997741694386722 1 0.998870847193361 0.999478886986703 1 0.995732143104926 0.999846274300985 NA NA 0.0020095512817967 0.00015372569901495 0.999739443493352 0.997789208702955 NA 0.00108163849040582 NA FALSE NA 0.159 0.035 . splice_region_variant&intron_variant LOW CTTN HGNC 3338 ENST00000376561 14/18 1 NA TGG G,T 8.236e-06 11:70431284 CTTN HGNC Symbol protein_coding 38180 ENSG00000085733 ENSE00003588443 splice_region_variant 0.243531 0.29781 0.24333 0.160901 0.572679993012214 0.235151 0.215776882831596 FALSE NA ENSE00000831428_BRK ENSE00000831428 BRK 11 70277252 70277421 + 45 90 35 A,G; T,T NA NA NA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACTTGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGCCTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA 70431145 70431315 NA NA NA NA NA NA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACTTGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGCCTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA GAGTGTCATGGCAGCATTCTGATTGCTGTTTGTTTTCAATCACAGGAGCAAGCCAGAGCCAAAACGCAAACGCCCCCTGTGTCGCCCGCACCTCAGCCAACCGAGGAGAGGCTGCCCTCGAGCCCCGTCTATGAGGTTGGTGTCTTTGGTGTTTGAATGAGCGTGAGTGA control 106 40 0 0 0 NA NA NA NA NA 0.999478886986703 1 0.995732143104926 0.999846274300985 -0.999478886986703 -1 NA NA 0.999739443493352 0.997789208702955 -0.999739443493352 NA NA NA TRUE NA NA NA NA NA CTTN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTTN NA NA NA ENSG00000085733 ENSE00003588443 NA NA NA NA NA NA NA 0.215776882831596 FALSE NA ENSE00000831538_000 ENSE00000831538 000 7 2418273 2418442 + 51 78 41 NA NA NA NA NA GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 NA NA NA NA NA NA GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC natural 730 1023 0.853713579482927 0.843494428105859 0.848604003794393 5692 3259 0.765181838816144 0.796790564526345 0.780986201671245 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 0 0 0 0 0.848604003794393 0.780986201671245 0 0 0 FALSE FALSE NA NA NA NA NA EIF3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF3B NA NA NA ENSG00000106263 ENSE00003508402 NA NA NA NA NA NA NA 0.999970669114633 TRUE NA ENSE00000831538_003 ENSE00000831538 003 7 2418273 2418442 + 51 78 41 G C 2418287 115 15 GTGCTTGTTGCTTTCAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378651 2378652 2378652 upstr_intron -37 -0.705882352941177 GTGCTTGTTGCTTTCAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 458 643 0.880149560235212 0.830781603046654 0.855465581640933 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.114967721419068 0.0339910385203086 0.848604003794393 0.780986201671245 NA 0.0744793799696885 NA FALSE NA 0.478 0.469 . intron_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 1/4 1 NA TGA G,C 4.942e-05 7:2378652 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 non_coding_transcript_exon_variant 0.074709 0.84207 0.66921 0.283894 0.56208655981642 0.650242 0.999970669114633 TRUE 3.6839e-05 ENSE00000831538_006 ENSE00000831538 006 7 2418273 2418442 + 51 78 41 A G 2418296 118 24 GTGCTTGTTGCTTTGAATGTTAAGTCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378660 2378661 2378661 upstr_intron -28 -0.529411764705882 GTGCTTGTTGCTTTGAATGTTAAGTCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 1336 719 0.565166401483494 0.601042615770308 0.583104508626901 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA -0.200015437332649 -0.195747948756038 0.848604003794393 0.780986201671245 NA -0.197881693044344 NA FALSE NA 0 -0.379 . intron_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 1/4 1 NA AAT A,G 8.237e-06 7:2378661 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 non_coding_transcript_exon_variant 0.359276 0.24074 0.10529 0.283894 0.719137206405334 0.158006 0.999970669114633 TRUE 8.1479e-06 ENSE00000831538_007 ENSE00000831538 007 7 2418273 2418442 + 51 78 41 C T 2418299 119 27 GTGCTTGTTGCTTTGAATGTTAAATCTTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378663 2378664 2378664 upstr_intron -25 -0.470588235294118 GTGCTTGTTGCTTTGAATGTTAAATCTTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 12 59 0.8 0.8 0.8 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.0348181611838565 0.0032094354736546 0.848604003794393 0.780986201671245 NA 0.0190137983287555 NA FALSE NA 0.003 0.039 . intron_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 1/4 1 NA CCT C,T 1.647e-05 7:2378664 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 non_coding_transcript_exon_variant 0.644524 0.41445 0.14621 0.283894 0.587133988976808 0.699237 0.999970669114633 TRUE 4.07193e-06 ENSE00000831538_008 ENSE00000831538 008 7 2418273 2418442 + 51 78 41 T C 2418307 120 35 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGACGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378671 2378672 2378672 upstr_intron -17 -0.313725490196078 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGACGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 355 48 0.8 0.8 0.8 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.0348181611838566 0.0032094354736546 0.848604003794393 0.780986201671245 NA 0.0190137983287556 NA FALSE NA 0.467 0.336 . intron_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 1/4 1 NA ATG T,C 1.647e-05 7:2378672 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 non_coding_transcript_exon_variant -0.110294 0.30309 0.03077 0.283894 0.562678724351616 0.158006 0.999970669114633 TRUE 2.44055e-05 ENSE00000831538_009 ENSE00000831538 009 7 2418273 2418442 + 51 78 41 G A 2418317 121 45 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTATTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378681 2378682 2378682 upstr_intron -7 -0.117647058823529 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTATTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 214 432 0.780354843559941 0.887251883926979 0.83380336374346 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.0151730047437971 0.0904613194006334 0.848604003794393 0.780986201671245 NA 0.0528171620722153 NA FALSE NA 0.997 0.331 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW EIF3B HGNC 3280 ENST00000468611 1/4 rs370374418 1 A:0.0010 A:0 A:0 NA A:0.005 A:0 A:0 A:0 A:0.0003 TGT G,A 0.0003295 7:2378682 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 splice_region_variant 0.41647 0.8652 0.83878 0.283894 0.393471403785268 0.439559 0.999970669114633 TRUE 0.000292638 ENSE00000831538_011 ENSE00000831538 011 7 2418273 2418442 + 51 78 41 C T 2418339 123 67 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATTTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378703 2378704 2378704 exon 16 0.205128205128205 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATTTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 188 157 0.813627534807593 0.81940929104357 0.816518412925582 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.0484456959914499 0.0226187265172242 0.848604003794393 0.780986201671245 NA 0.035532211254337 NA FALSE NA 1 2.129 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/5 1 NA TCT C,T 8.236e-06 7:2378704 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 synonymous_variant 0.995721 0.94709 0.88001 0.706548 0.578775970111577 0 0.999970669114633 TRUE 8.12546e-06 ENSE00000831538_012 ENSE00000831538 012 7 2418273 2418442 + 51 78 41 G A 2418344 124 72 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAAAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378708 2378709 2378709 exon 21 0.269230769230769 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAAAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 1316 748 0.00763733883748327 0.00128530861656761 0.00446132372702544 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA -0.75754449997866 -0.795505255909778 0.848604003794393 0.780986201671245 NA -0.776524877944219 NA TRUE NA 1 6.611 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/5 1 NA AGA G,A 6.589e-05 7:2378709 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 synonymous_variant 1.070103 0.9743 0.96863 0.706548 0.538383980116277 0 0.999970669114633 TRUE 3.65631e-05 ENSE00000831538_013 ENSE00000831538 013 7 2418273 2418442 + 51 78 41 A C 2418345 125 73 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGCAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378709 2378710 2378710 exon 22 0.282051282051282 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGCAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 1229 114 0.00583217091357718 0 0.00291608545678859 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA -0.759349667902566 -0.796790564526345 0.848604003794393 0.780986201671245 NA -0.778070116214456 NA TRUE NA 1 7.217 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/5 1 NA GAA A,C 8.236e-06 7:2378710 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 missense_variant 1.844112 0.96768 0.96618 0.706548 0.976227031179248 0 0.999970669114633 TRUE 8.124e-06 ENSE00000831538_014 ENSE00000831538 014 7 2418273 2418442 + 51 78 41 C T 2418350 126 78 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATATTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378714 2378715 2378715 exon 27 0.346153846153846 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATATTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 491 947 0.840998451591869 0.805037784303942 0.823018117947906 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.0758166127757256 0.00824721977759679 0.848604003794393 0.780986201671245 NA 0.0420319162766612 NA FALSE NA 0.998 0.676 rs149152140 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/5 rs149152140 1 T:0.0010 T:0 T:0.0058 NA T:0 T:0.001 T:0 T:0 T:0.0005 ACT C,T 0.0003871 7:2378715 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 synonymous_variant 0.796192 0.9599 0.89015 0.706548 0.440638482860254 0 0.999970669114633 TRUE 0.000503725 ENSE00000831538_015 ENSE00000831538 015 7 2418273 2418442 + 51 78 41 G A 2418376 127 104 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCATTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378740 2378741 2378741 exon -26 0.67948717948718 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCATTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 32 121 0.8 0.8 0.8 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.0348181611838565 0.0032094354736546 0.848604003794393 0.780986201671245 NA 0.0190137983287555 NA FALSE NA 1 9.684 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/5 1 NA CGT G,A 8.236e-06 7:2378741 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 missense_variant 7.03892 0.97446 0.98061 0.706548 0.998980140318011 0 0.999970669114633 TRUE 8.12797e-06 ENSE00000831538_016 ENSE00000831538 016 7 2418273 2418442 + 51 78 41 A C 2418390 128 118 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCCAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378754 2378755 2378755 exon -12 0.858974358974359 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCCAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 693 550 0.957392224236454 0.959983571899788 0.958687898068121 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.192210385420311 0.163193007373442 0.848604003794393 0.780986201671245 NA 0.177701696396876 NA FALSE NA 1 9.166 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/5 1 NA CAA A,C 8.236e-06 7:2378755 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 missense_variant 4.338918 0.9805 0.98524 0.706548 0.976223793134849 0 0.999970669114633 TRUE 4.06514e-06 ENSE00000831538_017 ENSE00000831538 017 7 2418273 2418442 + 51 78 41 C G 2418395 129 123 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCGTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378759 2378760 2378760 exon -7 0.923076923076923 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCGTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 1277 697 0.965445719721422 0.8083913209158 0.886918520318611 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.200263880905279 0.0116007563894545 0.848604003794393 0.780986201671245 NA 0.105932318647367 NA FALSE NA 0.967 0.097 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/5 1 NA CCT C,G 3.295e-05 7:2378760 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 synonymous_variant 1.930425 0.93686 0.82517 0.706548 0.671977077636414 0 0.999970669114633 TRUE 1.62662e-05 ENSE00000831538_018 ENSE00000831538 018 7 2418273 2418442 + 51 78 41 G A 2418406 130 134 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAACCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378770 2378771 2378771 downstr_intron 5 1.125 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAACCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 698 162 0.383367009224209 0.502461820474416 0.442914414849313 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA -0.381814829591934 -0.294328744051929 0.848604003794393 0.780986201671245 NA -0.338071786821932 NA FALSE NA 1 5.083 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW EIF3B HGNC 3280 ENST00000468611 2/4 1 NA AGC G,A 1.647e-05 7:2378771 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 splice_region_variant 1.102362 0.94252 0.82286 0.160901 0.771444546091811 0.965645 0.999970669114633 TRUE 8.14438e-06 ENSE00000831538_020 ENSE00000831538 020 7 2418273 2418442 + 51 78 41 A C 2418420 132 148 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAACTGAGGGCTGTGCTGTGACATCC 2378637 2378807 2378784 2378785 2378785 downstr_intron 19 1.475 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAACTGAGGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 1097 298 0.971942823431851 0.994715644455365 0.983329233943608 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.206760984615707 0.197925079929019 0.848604003794393 0.780986201671245 NA 0.202343032272363 NA FALSE NA 0 -0.413 . intron_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/4 rs377489516 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 AAT G,C 2.471e-05 7:2378785 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 non_coding_transcript_exon_variant -0.427093 0.16168 0.02143 0.160901 0.339409619141311 0.0786266 0.999970669114633 TRUE 2.04152e-05 ENSE00000831538_021 ENSE00000831538 021 7 2418273 2418442 + 51 78 41 G A 2418424 133 152 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAAGGCTGTGCTGTGACATCC 2378637 2378807 2378788 2378789 2378789 downstr_intron 23 1.575 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAAGGCTGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 886 99 0.80218022553431 0.8 0.801090112767155 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.0369983867181667 0.0032094354736546 0.848604003794393 0.780986201671245 NA 0.0201039110959106 NA FALSE NA 0.005 0.647 . intron_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/4 1 NA AGG G,A 1.647e-05 7:2378789 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 non_coding_transcript_exon_variant 0.386245 0.3876 0.2453 0.160901 0.55412856317522 0.568265 0.999970669114633 TRUE 1.22904e-05 ENSE00000831538_022 ENSE00000831538 022 7 2418273 2418442 + 51 78 41 T C 2418428 134 156 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCCGTGCTGTGACATCC 2378637 2378807 2378792 2378793 2378793 downstr_intron 27 1.675 GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCCGTGCTGTGACATCC GTGCTTGTTGCTTTGAATGTTAAATCCTGAGTGATGGGTCTTTTGTTTCAGCAAATTAAAAAGGATCTGAAGAAATACTCTAAGATCTTTGAACAGAAGGATCGTTTGAGTCAGTCCAAAGCCTCAAAGGTGAGCCTCATTCCCAAAATGAGGGCTGTGCTGTGACATCC mutant NA NA NA NA NA 90 349 0.916213559856388 0.8 0.858106779928194 0.853713579482927 0.843494428105859 0.765181838816144 0.796790564526345 NA NA 0.151031721040245 0.0032094354736546 0.848604003794393 0.780986201671245 NA 0.0771205782569496 NA FALSE NA 0.001 -0.967 . intron_variant&non_coding_transcript_variant MODIFIER EIF3B HGNC 3280 ENST00000468611 2/4 1 NA CTG T,C 8.237e-06 7:2378793 EIF3B HGNC Symbol protein_coding 26659 ENSG00000106263 ENSE00003508402 non_coding_transcript_exon_variant -0.363169 0.13303 0.00636 0.160901 0.230309359307034 0.0559152 0.999970669114633 TRUE 4.10065e-06 ENSE00000833109_000 ENSE00000833109 000 9 36599347 36599516 + 44 93 33 NA NA NA NA NA TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 NA NA NA NA NA NA TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC natural NA NA NA NA NA 7134 3557 0.925379084941543 0.897044731596495 0.911211908269019 NA NA 0.925379084941543 0.897044731596495 NA NA 0 0 NA 0.911211908269019 NA 0 NA FALSE NA NA NA NA NA NA MELK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MELK NA NA NA ENSG00000165304 ENSE00003598235 NA NA NA NA NA NA NA 1.8665175196218e-08 FALSE NA ENSE00000833109_002 ENSE00000833109 002 9 36599347 36599516 + 44 93 33 C G 36599371 436 25 TTAAGCGTTGTAATTAATAAGTTTGATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599373 36599374 36599374 upstr_intron -20 -0.431818181818182 TTAAGCGTTGTAATTAATAAGTTTGATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 80 499 1 0.976484064401264 0.988242032200632 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0746209150584572 0.0794393328047696 NA 0.911211908269019 NA 0.0770301239316134 NA FALSE NA 0 -1.272 . intron_variant MODIFIER MELK HGNC 16870 ENST00000536860 5/16 1 NA TCA C,G 8.236e-06 9:36599374 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 intron_variant 1.95892 0.18467 0.04712 0.156188 0.801223478013826 0.242105 1.8665175196218e-08 FALSE 4.22087e-06 ENSE00000833109_005 ENSE00000833109 005 9 36599347 36599516 + 44 93 33 G T 36599390 439 44 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCATGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599392 36599393 36599393 upstr_intron -1 0 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCATGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 68 289 0.731582268687514 0.793984999204552 0.762783633946033 NA NA 0.925379084941543 0.897044731596495 NA NA -0.193796816254029 -0.103059732391943 NA 0.911211908269019 NA -0.148428274322986 NA FALSE NA 1 8.507 . splice_acceptor_variant HIGH MELK HGNC 16870 ENST00000536860 5/16 1 NA HC AGG G,T 8.236e-06 9:36599393 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 splice_acceptor_variant 4.512181 0.98913 0.98527 0.295142 0.994860940756915 0.823655 1.8665175196218e-08 FALSE NA ENSE00000833109_006 ENSE00000833109 006 9 36599347 36599516 + 44 93 33 G T 36599392 440 46 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGTTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599394 36599395 36599395 exon 2 0.021505376344086 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGTTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 214 628 1 0.997476049292471 0.998738024646236 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0746209150584572 0.100431317695976 NA 0.911211908269019 NA 0.0875261163772167 NA FALSE NA 1 2.771 . missense_variant&splice_region_variant MODERATE MELK HGNC 16870 ENST00000536860 6/17 rs547460338 1 deleterious(0) possibly_damaging(0.821) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGT G,T 8.237e-06 9:36599395 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 missense_variant 6.401203 0.99334 0.94513 0.732398 0.993332721875954 0 1.8665175196218e-08 FALSE 4.07189e-06 ENSE00000833109_007 ENSE00000833109 007 9 36599347 36599516 + 44 93 33 A C 36599398 441 52 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACACGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599400 36599401 36599401 exon 8 0.0860215053763441 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACACGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 214 27 1 1 1 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0746209150584572 0.102955268403505 NA 0.911211908269019 NA 0.0887880917309812 NA FALSE NA 1 5.755 . missense_variant MODERATE MELK HGNC 16870 ENST00000536860 6/17 1 deleterious(0.02) benign(0.3) NA AAG A,C 1.647e-05 9:36599401 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 missense_variant 5.530207 0.98535 0.92281 0.732398 0.998013613465359 0 1.8665175196218e-08 FALSE 8.13815e-06 ENSE00000833109_009 ENSE00000833109 009 9 36599347 36599516 + 44 93 33 T A 36599402 443 56 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGAATACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599404 36599405 36599405 exon 12 0.129032258064516 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGAATACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 853 35 0.997606002204352 1 0.998803001102176 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0722269172628097 0.102955268403505 NA 0.911211908269019 NA 0.0875910928331574 NA FALSE NA 1 0.767 . missense_variant MODERATE MELK HGNC 16870 ENST00000536860 6/17 1 tolerated(0.15) benign(0.142) NA ATT T,A 8.237e-06 9:36599405 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 missense_variant 4.157966 0.97815 0.87148 0.732398 0.991736142659209 0 1.8665175196218e-08 FALSE NA ENSE00000833109_011 ENSE00000833109 011 9 36599347 36599516 + 44 93 33 C G 36599430 445 84 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTGTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599432 36599433 36599433 exon 40 0.43010752688172 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTGTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 493 1115 0.998656683825473 1 0.999328341912737 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0732775988839307 0.102955268403505 NA 0.911211908269019 NA 0.0881164336437179 NA FALSE NA 1 6.777 . missense_variant MODERATE MELK HGNC 16870 ENST00000536860 6/17 1 tolerated(0.16) benign(0.022) NA TCT C,G 8.236e-06 9:36599433 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 missense_variant 3.067819 0.99347 0.98337 0.732398 0.994556315060999 0 1.8665175196218e-08 FALSE 8.12242e-06 ENSE00000833109_012 ENSE00000833109 012 9 36599347 36599516 + 44 93 33 T C 36599435 446 89 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCCTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599437 36599438 36599438 exon 45 0.483870967741935 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCCTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 31 294 1 0.999461686339176 0.999730843169588 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0746209150584572 0.102416954742681 NA 0.911211908269019 NA 0.0885189349005691 NA FALSE NA 0.966 -0.061 . synonymous_variant LOW MELK HGNC 16870 ENST00000536860 6/17 1 NA CTT T,C 8.236e-06 9:36599438 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 synonymous_variant 0.507641 0.96843 0.78311 0.732398 0.711615937579398 0 1.8665175196218e-08 FALSE 4.06111e-06 ENSE00000833109_015 ENSE00000833109 015 9 36599347 36599516 + 44 93 33 A C 36599449 449 103 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGCGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599451 36599452 36599452 exon -35 0.634408602150538 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGCGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 24 92 1 1 1 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0746209150584572 0.102955268403505 NA 0.911211908269019 NA 0.0887880917309812 NA FALSE NA 1 8.103 . missense_variant MODERATE MELK HGNC 16870 ENST00000536860 6/17 rs570619247 1 deleterious(0) probably_damaging(0.998) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 GAG A,C 8.236e-06 9:36599452 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 missense_variant 6.185068 0.9914 0.98635 0.732398 0.996817519660964 0 1.8665175196218e-08 FALSE 4.06151e-06 ENSE00000833109_016 ENSE00000833109 016 9 36599347 36599516 + 44 93 33 A G 36599456 450 110 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATGCAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599458 36599459 36599459 exon -28 0.709677419354839 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATGCAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 448 133 1 1 1 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0746209150584572 0.102955268403505 NA 0.911211908269019 NA 0.0887880917309812 NA FALSE NA 0.999 0.634 NA NA NA MELK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:36599459 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 missense_variant 4.820164 0.97067 0.79682 0.732398 0.996467589962555 0 1.8665175196218e-08 FALSE 1.21847e-05 ENSE00000833109_019 ENSE00000833109 019 9 36599347 36599516 + 44 93 33 A C 36599465 453 119 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAACTCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599467 36599468 36599468 exon -19 0.806451612903226 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAACTCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 175 52 0.996418258391486 0.962649966579032 0.979534112485259 NA NA 0.925379084941543 0.897044731596495 NA NA 0.0710391734499431 0.0656052349825376 NA 0.911211908269019 NA 0.0683222042162404 NA FALSE NA 1 4.274 . missense_variant MODERATE MELK HGNC 16870 ENST00000536860 6/17 1 deleterious(0) probably_damaging(0.972) NA AAT A,C 8.236e-06 9:36599468 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 missense_variant 5.924675 0.98183 0.95487 0.732398 0.998616302669041 0 1.8665175196218e-08 FALSE 4.06233e-06 ENSE00000833109_020 ENSE00000833109 020 9 36599347 36599516 + 44 93 33 A T 36599468 454 122 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCTTATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC 36599349 36599519 36599470 36599471 36599471 exon -16 0.838709677419355 TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCTTATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC TTAAGCGTTGTAATTAATAAGTTTCATTTTTATCTTATTGGCAGGGTAACAAGGATTACCATCTACAGACATGCTGTGGGAGTCTGGCTTATGCAGCACCTGAGTTAATACAAGGCAAATCATATCTTGGATCAGAGGTAATTATTCATTGATTAATTCATTATATAATC mutant NA NA NA NA NA 36 144 0.834780416110614 1 0.917390208055307 NA NA 0.925379084941543 0.897044731596495 NA NA -0.0905986688309284 0.102955268403505 NA 0.911211908269019 NA 0.00617829978628837 NA FALSE NA 0.04 -0.835 NA NA NA MELK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:36599471 MELK HGNC Symbol protein_coding 104821 ENSG00000165304 ENSE00003598235 synonymous_variant 0.128956 0.95359 0.14654 0.732398 0.693327926155522 0 1.8665175196218e-08 FALSE 1.21961e-05 ENSE00000833110_000 ENSE00000833110 000 9 36642947 36643116 + 47 87 36 NA NA NA NA NA TATATTTGTAATTTTTTGTTAATAAAGTGCATAATTTTTTTTTGTAGTTTATTCACCTCGATGATGATTGCGTAACAGAACTTTCTGTACATCACAGAAACAACAGGCAAACAATGGAGGATTTAATTTCACTGGTAAGAAATACAGCATGGGCTGGGCGCAGTGGCTCA 36642949 36643119 NA NA NA NA NA NA TATATTTGTAATTTTTTGTTAATAAAGTGCATAATTTTTTTTTGTAGTTTATTCACCTCGATGATGATTGCGTAACAGAACTTTCTGTACATCACAGAAACAACAGGCAAACAATGGAGGATTTAATTTCACTGGTAAGAAATACAGCATGGGCTGGGCGCAGTGGCTCA TATATTTGTAATTTTTTGTTAATAAAGTGCATAATTTTTTTTTGTAGTTTATTCACCTCGATGATGATTGCGTAACAGAACTTTCTGTACATCACAGAAACAACAGGCAAACAATGGAGGATTTAATTTCACTGGTAAGAAATACAGCATGGGCTGGGCGCAGTGGCTCA natural NA NA NA NA NA 53 298 1 0.979895369471275 0.989947684735637 NA NA 1 0.979895369471275 NA NA 0 0 NA 0.989947684735637 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00000833110 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000835661_000 ENSE00000835661 000 1 52257993 52258162 - 56 48 66 NA NA NA NA NA CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC 51792320 51792490 NA NA NA NA NA NA CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC CTGGATTATTTAAAAGCCCTGTAAACCACTGGATATTCAGTTGGCCTGACAACCTTCTCTTTTCAGTCAGGTACCAGGAGTCTAAGAGAATATACGCTTATGGAGCTGCTTGTGGTAAGTGCATAAAGGAGATGCTGAGGTTTTCAGCAGCCCCTGACCCACTATGAGGC natural 12 20 0.85 0.918181365153329 0.884090682576665 1859 1813 0.829224013522643 0.977337440850611 0.903280727186627 0.85 0.918181365153329 0.829224013522643 0.977337440850611 0 0 0 0 0.884090682576665 0.903280727186627 0 0 0 FALSE FALSE NA NA NA NA NA RP4-657D16.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NRDC NA NA NA ENSG00000078618 ENSE00003594065 NA NA NA NA NA NA NA NA NA NA ENSE00000835958_000 ENSE00000835958 000 12 27845467 27845636 + 57 66 47 NA NA NA NA NA GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 NA NA NA NA NA NA GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT natural NA NA NA NA NA 3197 1580 0.981545543382156 0.99695150658031 0.989248524981233 NA NA 0.981545543382156 0.99695150658031 NA NA 0 0 NA 0.989248524981233 NA 0 NA FALSE NA NA NA NA NA NA PPFIBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPFIBP1 NA NA NA ENSG00000110841 ENSE00000835958 NA NA NA NA NA NA NA 2.09888083812757e-12 FALSE NA ENSE00000835958_002 ENSE00000835958 002 12 27845467 27845636 + 57 66 47 T C 27845482 852 16 GCACTTTCCCTGAAACTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692548 27692549 27692549 upstr_intron -42 -0.719298245614035 GCACTTTCCCTGAAACTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant NA NA NA NA NA 203 597 1 0.997802728369307 0.998901364184653 NA NA 0.981545543382156 0.99695150658031 NA NA 0.0184544566178444 0.000851221788996659 NA 0.989248524981233 NA 0.00965283920342053 NA FALSE NA 0 -0.296 . intron_variant MODIFIER PPFIBP1 HGNC 9249 ENST00000539326 4/5 1 NA ATT T,C 3.295e-05 12:27692549 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 intron_variant 0.133681 0.19818 0.02424 0.162113 0.639103965941388 0.0833004 2.09888083812757e-12 FALSE 2.03995e-05 ENSE00000835958_003 ENSE00000835958 003 12 27845467 27845636 + 57 66 47 T C 27845497 853 31 GCACTTTCCCTGAAATTGTGAAAACACTTACGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692563 27692564 27692564 upstr_intron -27 -0.456140350877193 GCACTTTCCCTGAAATTGTGAAAACACTTACGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant NA NA NA NA NA 573 89 0.996486642256165 0.979934247572199 0.988210444914182 NA NA 0.981545543382156 0.99695150658031 NA NA 0.014941098874009 -0.0170172590081109 NA 0.989248524981233 NA -0.00103808006705097 NA FALSE NA 0.001 0.815 . intron_variant MODIFIER PPFIBP1 HGNC 9249 ENST00000539326 4/5 1 NA ATG T,C 8.237e-06 12:27692564 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 intron_variant 0.298821 0.30861 0.14154 0.099367 0.784766290644887 0.0833004 2.09888083812757e-12 FALSE 4.0705e-06 ENSE00000835958_004 ENSE00000835958 004 12 27845467 27845636 + 57 66 47 T C 27845502 854 36 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCACGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692568 27692569 27692569 upstr_intron -22 -0.368421052631579 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCACGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant 14 12 0.998661155878315 1 0.999330577939157 NA NA NA NA NA NA NA 0.981545543382156 0.99695150658031 NA NA NA NA NA 0.989248524981233 NA NA NA NA NA 0 -0.022 . intron_variant MODIFIER PPFIBP1 HGNC 9249 ENST00000539326 4/5 1 NA ATG T,C 8.236e-06 12:27692569 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 intron_variant -0.027625 0.145 0.015 0.099367 0.628877908957696 0.0834051 2.09888083812757e-12 FALSE 4.06914e-06 ENSE00000835958_006 ENSE00000835958 006 12 27845467 27845636 + 57 66 47 A G 27845506 856 40 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTGTGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692572 27692573 27692573 upstr_intron -18 -0.298245614035088 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTGTGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant NA NA NA NA NA 277 580 1 0.997602314526908 0.998801157263454 NA NA 0.981545543382156 0.99695150658031 NA NA 0.0184544566178444 0.000650807946598109 NA 0.989248524981233 NA 0.00955263228222125 NA FALSE NA 0 -2.066 . intron_variant MODIFIER PPFIBP1 HGNC 9249 ENST00000539326 4/5 1 NA TAT A,G 8.236e-06 12:27692573 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 intron_variant 0.211638 0.15925 0.02191 0.162113 0.690578090797338 0.0834051 2.09888083812757e-12 FALSE 4.06841e-06 ENSE00000835958_009 ENSE00000835958 009 12 27845467 27845636 + 57 66 47 G A 27845545 859 79 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAATGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692611 27692612 27692612 exon 22 0.333333333333333 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAATGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant 19 14 0.995416325990818 0.991420526431214 0.993418426211016 92 34 1 1 1 NA NA 0.981545543382156 0.99695150658031 NA NA 0.0184544566178444 0.00304849341968993 NA 0.989248524981233 NA 0.0107514750187672 NA FALSE NA 1 9.438 . missense_variant MODERATE PPFIBP1 HGNC 9249 ENST00000539326 5/6 1 deleterious_low_confidence(0.02) probably_damaging(1) NA AGT G,A 8.236e-06 12:27692612 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 missense_variant 6.79248 0.99551 0.99426 0.732398 0.998546591123119 0 2.09888083812757e-12 FALSE 4.06372e-06 ENSE00000835958_010 ENSE00000835958 010 12 27845467 27845636 + 57 66 47 G A 27845560 860 94 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTACATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692626 27692627 27692627 exon -30 0.560606060606061 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTACATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant NA NA NA NA NA 128 145 1 0.997059662158508 0.998529831079254 NA NA 0.981545543382156 0.99695150658031 NA NA 0.0184544566178444 0.000108155578197544 NA 0.989248524981233 NA 0.00928130609802097 NA FALSE NA 1 9.438 . missense_variant MODERATE PPFIBP1 HGNC 9249 ENST00000539326 5/6 1 deleterious(0.01) possibly_damaging(0.447) NA TGC G,A 8.236e-06 12:27692627 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 missense_variant 5.03737 0.99529 0.99419 0.732398 0.998769913743779 0 2.09888083812757e-12 FALSE 1.21909e-05 ENSE00000835958_011 ENSE00000835958 011 12 27845467 27845636 + 57 66 47 T C 27845564 861 98 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATCCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692630 27692631 27692631 exon -26 0.621212121212121 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATCCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant NA NA NA NA NA 269 211 0.98722324528284 1 0.99361162264142 NA NA 0.981545543382156 0.99695150658031 NA NA 0.00567770190068484 0.00304849341968993 NA 0.989248524981233 NA 0.00436309766018739 NA FALSE NA 1 7.695 . missense_variant MODERATE PPFIBP1 HGNC 9249 ENST00000539326 5/6 1 deleterious(0) probably_damaging(0.999) NA TTC T,C 8.236e-06 12:27692631 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 missense_variant 6.814428 0.99351 0.98952 0.732398 0.998943801048844 0 2.09888083812757e-12 FALSE 4.06345e-06 ENSE00000835958_012 ENSE00000835958 012 12 27845467 27845636 + 57 66 47 G A 27845573 862 107 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGACATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692639 27692640 27692640 exon -17 0.757575757575758 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGACATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant NA NA NA NA NA 94 153 1 1 1 NA NA 0.981545543382156 0.99695150658031 NA NA 0.0184544566178444 0.00304849341968993 NA 0.989248524981233 NA 0.0107514750187672 NA FALSE NA 1 7.594 . missense_variant MODERATE PPFIBP1 HGNC 9249 ENST00000539326 5/6 1 tolerated(0.27) possibly_damaging(0.792) NA GGC G,A 8.236e-06 12:27692640 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 missense_variant 5.96211 0.99551 0.99078 0.732398 0.997911678596896 0 2.09888083812757e-12 FALSE 4.06339e-06 ENSE00000835958_017 ENSE00000835958 017 12 27845467 27845636 + 57 66 47 G A 27845589 867 123 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACAGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT 27692533 27692703 27692655 27692656 27692656 exon -1 1 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACAGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant NA NA NA NA NA 1486 18 0.895000751034305 0.8 0.847500375517153 NA NA 0.981545543382156 0.99695150658031 NA NA -0.0865447923478505 -0.19695150658031 NA 0.989248524981233 NA -0.14174814946408 NA FALSE NA 0 -1.584 . splice_region_variant&synonymous_variant LOW PPFIBP1 HGNC 9249 ENST00000539326 5/6 rs369788968 1 NA A:0 A:0.0001 CGG G,A 2.471e-05 12:27692656 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 splice_region_variant -0.759392 0.16166 0.06221 0.732398 0.444600366759377 0 2.09888083812757e-12 FALSE 1.62559e-05 ENSE00000835958_020 ENSE00000835958 020 12 27845467 27845636 + 57 66 47 T A 27845617 870 151 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGATATTCTATAAATGTCTTTT 27692533 27692703 27692683 27692684 27692684 downstr_intron 28 1.60869565217391 GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGATATTCTATAAATGTCTTTT GCACTTTCCCTGAAATTGTGAAAACACTTATGTCATGTTATGGTTTGTTATTTGCAGATGGAAGATTCAGAAGGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACGGTGAGTTTGTGAAATGAATTGAAAATGTTATTCTATAAATGTCTTTT mutant NA NA NA NA NA 93 208 1 0.993724336351168 0.996862168175584 NA NA 0.981545543382156 0.99695150658031 NA NA 0.0184544566178444 -0.00322717022914198 NA 0.989248524981233 NA 0.00761364319435121 NA FALSE NA 0 0.024 . intron_variant MODIFIER PPFIBP1 HGNC 9249 ENST00000539326 5/5 1 NA GTT T,A 8.236e-06 12:27692684 PPFIBP1 HGNC Symbol protein_coding 172133 ENSG00000110841 ENSE00000835958 intron_variant 0.450124 0.23798 0.07032 0.088506 0.799979957826222 0.345137 2.09888083812757e-12 FALSE NA ENSE00000836474_000 ENSE00000836474 000 19 13865040 13865209 + 63 54 53 NA NA NA NA NA GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 NA NA NA NA NA NA GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC natural 71 92 0.997678554526834 0.995853462931998 0.996766008729416 2855 4260 0.972397449108566 0.975987820626884 0.974192634867725 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 0 0 0 0 0.996766008729416 0.974192634867725 0 0 0 FALSE FALSE NA NA NA NA NA CCDC130 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC130 NA NA NA ENSG00000104957 ENSE00003516197 NA NA NA NA NA NA NA 0.0250490309774666 FALSE NA ENSE00000836474_001 ENSE00000836474 001 19 13865040 13865209 + 63 54 53 T C 13865061 1163 22 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATGTGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754246 13754247 13754247 upstr_intron -42 -0.650793650793651 GGTAGGGACACAGCCAAACCACATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 562 864 0.935648412299857 0.997585411586154 0.966616911943005 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA -0.0367490368087083 0.0215975909592701 0.996766008729416 0.974192634867725 NA -0.00757572292471914 NA FALSE NA 0 -0.375 . intron_variant&non_coding_transcript_variant MODIFIER CCDC130 HGNC 28118 ENST00000588071 3/7 1 NA ATA T,C 8.236e-06 19:13754247 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 intron_variant -0.371861 0.17941 0.0165 0.156188 0.597455465457561 0.046323 0.0250490309774666 FALSE 8.12387e-06 ENSE00000836474_003 ENSE00000836474 003 19 13865040 13865209 + 63 54 53 G A 13865066 1165 27 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGTTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754251 13754252 13754252 upstr_intron -37 -0.571428571428571 GGTAGGGACACAGCCAAACCATATCAACCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 209 1197 1 0.999649503690856 0.999824751845428 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA 0.0276025508914345 0.0236616830639719 0.996766008729416 0.974192634867725 NA 0.0256321169777032 NA FALSE NA 0.049 0.262 . intron_variant&non_coding_transcript_variant MODIFIER CCDC130 HGNC 28118 ENST00000588071 3/7 rs201167178 1 NA AGC G,A 8.236e-06 19:13754252 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 intron_variant 0.053735 0.17631 0.00801 0.295142 0.473781858943227 0.046323 0.0250490309774666 FALSE 1.62473e-05 ENSE00000836474_004 ENSE00000836474 004 19 13865040 13865209 + 63 54 53 C T 13865068 1166 29 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAAGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754253 13754254 13754254 upstr_intron -35 -0.53968253968254 GGTAGGGACACAGCCAAACCATATCAGCTTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 160 853 0.998966597624263 0.998377501078089 0.998672049351176 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA 0.0265691485156974 0.0223896804512047 0.996766008729416 0.974192634867725 NA 0.024479414483451 NA FALSE NA 0.027 0.83 . intron_variant&non_coding_transcript_variant MODIFIER CCDC130 HGNC 28118 ENST00000588071 3/7 1 NA CCT C,T 8.236e-06 19:13754254 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 intron_variant 0.16098 0.21778 0.01032 0.295142 0.413107659876582 0.046323 0.0250490309774666 FALSE 1.21846e-05 ENSE00000836474_005 ENSE00000836474 005 19 13865040 13865209 + 63 54 53 C T 13865070 1167 31 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAAAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754255 13754256 13754256 upstr_intron -33 -0.507936507936508 GGTAGGGACACAGCCAAACCATATCAGCCTTTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 278 2297 0.961122570236221 0.999800935834826 0.980461753035524 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA -0.011274878872344 0.0238131152079423 0.996766008729416 0.974192634867725 NA 0.00626911816779913 NA FALSE NA 0 0.139 NA NA NA CCDC130 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:13754256 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 intron_variant -0.267639 0.15451 0.03667 0.295142 0.257329453896545 0.0455939 0.0250490309774666 FALSE 0.341256 ENSE00000836474_007 ENSE00000836474 007 19 13865040 13865209 + 63 54 53 C T 13865095 1169 56 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAACAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754280 13754281 13754281 upstr_intron -8 -0.111111111111111 GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGTTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 26 32 1 0.8 0.9 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA 0.0276025508914345 -0.175987820626884 0.996766008729416 0.974192634867725 NA -0.0741926348677246 NA FALSE NA 0 -0.23 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CCDC130 HGNC 28118 ENST00000588071 3/7 1 NA GCT C,T 8.236e-06 19:13754281 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 splice_region_variant 0.882407 0.16093 0.02887 0.295142 0.658500650974361 0.121369 0.0250490309774666 FALSE 4.06088e-06 ENSE00000836474_010 ENSE00000836474 010 19 13865040 13865209 + 63 54 53 G A 13865126 1172 87 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTATTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754311 13754312 13754312 exon 24 0.444444444444444 GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAATACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 721 176 0.990370540613615 0.998198539547959 0.994284540080787 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA 0.0179730915050492 0.022210718921075 0.996766008729416 0.974192634867725 NA 0.0200919052130621 NA FALSE NA 1 2.072 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC130 HGNC 28118 ENST00000588071 4/8 1 NA AGT G,A 1.647e-05 19:13754312 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 synonymous_variant 1.36193 0.96765 0.90461 0.732398 0.629898332018578 0 0.0250490309774666 FALSE 4.06062e-06 ENSE00000836474_011 ENSE00000836474 011 19 13865040 13865209 + 63 54 53 C T 13865129 1173 90 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAATACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754314 13754315 13754315 exon 27 0.5 GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTATTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 2121 362 0.999805810424742 1 0.999902905212371 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA 0.0274083613161762 0.0240121793731162 0.996766008729416 0.974192634867725 NA 0.0257102703446462 NA FALSE NA 0.953 -0.006 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC130 HGNC 28118 ENST00000588071 4/8 1 NA ACT C,T 8.236e-06 19:13754315 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 synonymous_variant 1.047598 0.95714 0.66312 0.732398 0.56062048326458 0 0.0250490309774666 FALSE 4.06058e-06 ENSE00000836474_012 ENSE00000836474 012 19 13865040 13865209 + 63 54 53 G A 13865156 1174 117 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTACTTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754341 13754342 13754342 exon -1 1 GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAAGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 170 118 0.954396909236624 1 0.977198454618312 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA -0.0180005398719415 0.0240121793731162 0.996766008729416 0.974192634867725 NA 0.00300581975058734 NA FALSE NA 1 8.219 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW CCDC130 HGNC 28118 ENST00000588071 4/8 1 NA AGG G,A 8.237e-06 19:13754342 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 splice_region_variant 2.475599 0.98838 0.98658 0.732398 0.865262886308844 0 0.0250490309774666 FALSE 4.06072e-06 ENSE00000836474_013 ENSE00000836474 013 19 13865040 13865209 + 63 54 53 G A 13865157 1175 118 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAGAGCCTGCTTATCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754342 13754343 13754343 downstr_intron 1 1.01923076923077 GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGATAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 199 50 1 0.805031808994767 0.902515904497383 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA 0.0276025508914345 -0.170956011632117 0.996766008729416 0.974192634867725 NA -0.0716767303703414 NA FALSE NA 1 8.219 . splice_donor_variant&non_coding_transcript_variant HIGH CCDC130 HGNC 28118 ENST00000588071 4/7 rs200521047 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGT G,A 9.884e-05 19:13754343 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 splice_donor_variant 4.942974 0.98838 0.98658 0.359288 0.994279447322364 0.964395 0.0250490309774666 FALSE 0.000105581 ENSE00000836474_015 ENSE00000836474 015 19 13865040 13865209 + 63 54 53 C T 13865168 1177 129 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCGGAAAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754353 13754354 13754354 downstr_intron 12 1.23076923076923 GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTTTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 438 90 1 1 1 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA 0.0276025508914345 0.0240121793731162 0.996766008729416 0.974192634867725 NA 0.0258073651322753 NA FALSE NA 0 -0.493 rs34136555 intron_variant&non_coding_transcript_variant MODIFIER CCDC130 HGNC 28118 ENST00000588071 4/7 rs34136555 1 T:0.0759 T:0.2776 T:0.0187 NA T:0 T:0 T:0 T:0.2508 T:0.0007 TCT C,T 0.022 19:13754354 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 intron_variant 0.112243 0.08922 0.01063 0.093477 0.629584745242696 0.113898 0.0250490309774666 FALSE 0.0176892 ENSE00000836474_017 ENSE00000836474 017 19 13865040 13865209 + 63 54 53 C T 13865171 1179 132 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGCAGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754356 13754357 13754357 downstr_intron 15 1.28846153846154 GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCTGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 73 325 1 0.993620542821393 0.996810271410696 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA 0.0276025508914345 0.0176327221945091 0.996766008729416 0.974192634867725 NA 0.0226176365429718 NA FALSE NA 0 -0.739 . intron_variant&non_coding_transcript_variant MODIFIER CCDC130 HGNC 28118 ENST00000588071 4/7 rs376116418 1 NA T:0 T:0.0001 CCG C,T 6.589e-05 19:13754357 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 intron_variant -0.110969 0.06282 0.00062 0.093477 0.508536678427498 0.0455939 0.0250490309774666 FALSE 5.27927e-05 ENSE00000836474_018 ENSE00000836474 018 19 13865040 13865209 + 63 54 53 G A 13865172 1180 133 GGATGACGTGGGTCTTTTTGCTACTGTGGACCTGGAGTGGAGAGCCTGCTTACCTTCTCAGGGTTGAAGTCTGGAGGATAGTACTTGTTGACCCCTTTCCTTTCACCCTGCAAAGCAGAACAGAGACATGACTCAGAGAGAGGCTGATATGGTTTGGCTGTGTCCCTACC 13754225 13754395 13754357 13754358 13754358 downstr_intron 16 1.30769230769231 GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCACTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC GGTAGGGACACAGCCAAACCATATCAGCCTCTCTCTGAGTCATGTCTCTGTTCTGCTTTGCAGGGTGAAAGGAAAGGGGTCAACAAGTACTATCCTCCAGACTTCAACCCTGAGAAGGTAAGCAGGCTCTCCGCTCCAGGTCCACAGTAGCAAAAAGACCCACGTCATCC mutant NA NA NA NA NA 1193 1298 0.924394637559092 0.998476681482335 0.961435659520714 0.997678554526834 0.995853462931998 0.972397449108566 0.975987820626884 NA NA -0.0480028115494733 0.0224888608554515 0.996766008729416 0.974192634867725 NA -0.0127569753470109 NA FALSE NA 0 -0.592 . intron_variant&non_coding_transcript_variant MODIFIER CCDC130 HGNC 28118 ENST00000588071 4/7 rs573663025 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 8.236e-05 19:13754358 CCDC130 HGNC Symbol protein_coding 31536 ENSG00000104957 ENSE00003516197 intron_variant -0.300557 0.11547 0.01751 0.093477 0.420691679584158 0.0455939 0.0250490309774666 FALSE 5.68546e-05 ENSE00000836564_000 ENSE00000836564 000 19 14508823 14508992 + 51 78 41 NA NA NA NA NA ATTCTACACTGTCCTGGGGTCCCCCAGCATCCTGCCCTTACCTGGATGGTGACCTCGGCTGAGCTTGTCTTGGAGTCTCTGCCCAGGTCCTGGACTTTGTCGAAGAATCGGGAAAGCGTCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACGGCGGGTGGGAA 14398010 14398180 NA NA NA NA NA NA TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT natural 94 30 0.960584994522298 0.997864193424246 0.979224593973272 1076 1285 0.999578525968062 0.983150561452498 0.99136454371028 0.960584994522298 0.997864193424246 0.999578525968062 0.983150561452498 0 0 0 0 0.979224593973272 0.99136454371028 0 0 0 FALSE FALSE NA NA NA NA NA CD97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADGRE5 NA NA NA ENSG00000123146 ENSE00003545641 NA NA NA NA NA NA NA NA NA NA ENSE00000836564_001 ENSE00000836564 001 19 14508823 14508992 + 51 78 41 C T 14508834 1181 12 ATTCTACACTGTCCTGGGGTCCCCCAGCATCCTGCCCTTACCTGGATGGTGACCTCGGCTGAGCTTGTCTTGGAGTCTCTGCCCAGGTCCTGGACTTTGTCGAAGAATCGGGAAAGCGTCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACAGCGGGTGGGAA 14398010 14398180 14398021 14398022 14398022 upstr_intron -40 -0.764705882352941 TTCCCACCCGCTGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT mutant NA NA NA NA NA 22 89 1 1 1 0.960584994522298 0.997864193424246 0.999578525968062 0.983150561452498 NA NA 0.000421474031937707 0.0168494385475016 0.979224593973272 0.99136454371028 NA 0.00863545628971968 NA FALSE NA 0 -0.597 . intron_variant&non_coding_transcript_variant MODIFIER CD97 HGNC 1711 ENST00000587319 1/1 1 NA CCG C,T 4.119e-05 19:14398022 ADGRE5 HGNC Symbol protein_coding 28224 ENSG00000123146 ENSE00003545641 intron_variant 0.323742 0.13413 0.03465 0.256867 0.786682904639629 0.0521688 NA NA 6.50819e-05 ENSE00000836564_002 ENSE00000836564 002 19 14508823 14508992 + 51 78 41 C T 14508875 1182 53 ATTCTACACTGTCCTGGGGTCCCCCAGCATCCTGCCCTTACCTGGATGGTGACCTCGGCTGAGCTTGTCTTGGAGTCTCTGCCCAGGTCCTGGACTTTGTCGAAGAATCGGGAAAGCATCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACGGCGGGTGGGAA 14398010 14398180 14398062 14398063 14398063 exon 2 0.0256410256410256 TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGATGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT mutant NA NA NA NA NA 44 51 1 1 1 0.960584994522298 0.997864193424246 0.999578525968062 0.983150561452498 NA NA 0.000421474031937707 0.0168494385475016 0.979224593973272 0.99136454371028 NA 0.00863545628971968 NA FALSE NA 0 -1.6 rs150335785 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW CD97 HGNC 1711 ENST00000587319 2/2 rs150335785 1 T:0.0006 T:0.0008 T:0 NA T:0 T:0 T:0.002 T:0 T:0.0002 ACG C,T 8.236e-05 19:14398063 ADGRE5 HGNC Symbol protein_coding 28224 ENSG00000123146 ENSE00003545641 missense_variant 0.705807 0.10341 0.00959 0.67177 0.989913705915174 0 NA NA 6.4972e-05 ENSE00000836564_008 ENSE00000836564 008 19 14508823 14508992 + 51 78 41 A G 14508893 1188 71 ATTCTACACTGTCCTGGGGTCCCCCAGCATCCTGCCCTTACCTGGATGGTGACCTCGGCTGAGCTTGTCTTGGAGTCTCTGCCCAGGTCCTGGACTTTGCCGAAGAATCGGGAAAGCGTCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACGGCGGGTGGGAA 14398010 14398180 14398080 14398081 14398081 exon 20 0.256410256410256 TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGGCAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT mutant NA NA NA NA NA 305 264 1 1 1 0.960584994522298 0.997864193424246 0.999578525968062 0.983150561452498 NA NA 0.000421474031937707 0.0168494385475016 0.979224593973272 0.99136454371028 NA 0.00863545628971968 NA FALSE NA 0 0.162 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CD97 HGNC 1711 ENST00000587319 2/2 1 NA GAC A,G 2.471e-05 19:14398081 ADGRE5 HGNC Symbol protein_coding 28224 ENSG00000123146 ENSE00003545641 missense_variant 0.920889 0.16661 0.02166 0.67177 0.935360332349977 0 NA NA 2.03034e-05 ENSE00000836564_011 ENSE00000836564 011 19 14508823 14508992 + 51 78 41 C T 14508906 1191 84 ATTCTACACTGTCCTGGGGTCCCCCAGCATCCTGCCCTTACCTGGATGGTGACCTCGGCTGAGCTTGTCTTGGAGTCTCTGCCCAGATCCTGGACTTTGTCGAAGAATCGGGAAAGCGTCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACGGCGGGTGGGAA 14398010 14398180 14398093 14398094 14398094 exon 33 0.423076923076923 TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGATCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT mutant NA NA NA NA NA 470 132 1 1 1 0.960584994522298 0.997864193424246 0.999578525968062 0.983150561452498 NA NA 0.000421474031937707 0.0168494385475016 0.979224593973272 0.99136454371028 NA 0.00863545628971968 NA FALSE NA 0 -1.438 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CD97 HGNC 1711 ENST00000587319 2/2 rs527288068 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 ACC C,T 0.00014 19:14398094 ADGRE5 HGNC Symbol protein_coding 28224 ENSG00000123146 ENSE00003545641 synonymous_variant 0.643784 0.07842 0.00149 0.67177 0.340330721880784 0 NA NA 0.000129941 ENSE00000836564_014 ENSE00000836564 014 19 14508823 14508992 + 51 78 41 T A 14508919 1194 97 ATTCTACACTGTCCTGGGGTCCCCCAGCATCCTGCCCTTACCTGGATGGTGACCTCGGCTGAGCTTGTCTTGGTGTCTCTGCCCAGGTCCTGGACTTTGTCGAAGAATCGGGAAAGCGTCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACGGCGGGTGGGAA 14398010 14398180 14398106 14398107 14398107 exon -33 0.58974358974359 TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACACCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT mutant NA NA NA NA NA 561 72 0.998356987632778 1 0.999178493816389 0.960584994522298 0.997864193424246 0.999578525968062 0.983150561452498 NA NA -0.00122153833528438 0.0168494385475016 0.979224593973272 0.99136454371028 NA 0.00781395010610864 NA FALSE NA 0.002 1.081 rs143859763 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CD97 HGNC 1711 ENST00000587319 2/2 rs143859763 1 NA A:0.0002 A:0.0005 CTC T,A 0.0001153 19:14398107 ADGRE5 HGNC Symbol protein_coding 28224 ENSG00000123146 ENSE00003545641 missense_variant 1.188905 0.16745 0.05878 0.67177 0.950488215270048 0 NA NA 5.68486e-05 ENSE00000836564_016 ENSE00000836564 016 19 14508823 14508992 + 51 78 41 A C 14508927 1196 105 ATTCTACACTGTCCTGGGGTCCCCCAGCATCCTGCCCTTACCTGGATGGTGACCTCGGCTGAGCTGGTCTTGGAGTCTCTGCCCAGGTCCTGGACTTTGTCGAAGAATCGGGAAAGCGTCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACGGCGGGTGGGAA 14398010 14398180 14398114 14398115 14398115 exon -25 0.692307692307692 TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACCAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTCCAAGACAAGCTCAGCCGAGGTCACCATCCAGGTAAGGGCAGGATGCTGGGGGACCCCAGGACAGTGTAGAAT mutant NA NA NA NA NA 673 161 0.998674739949545 1 0.999337369974772 0.960584994522298 0.997864193424246 0.999578525968062 0.983150561452498 NA NA -0.000903786018517594 0.0168494385475016 0.979224593973272 0.99136454371028 NA 0.00797282626449203 NA FALSE NA 0 -0.218 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CD97 HGNC 1711 ENST00000587319 2/2 1 NA CAA A,C 8.236e-06 19:14398115 ADGRE5 HGNC Symbol protein_coding 28224 ENSG00000123146 ENSE00003545641 synonymous_variant -1.765892 0.08702 0.01096 0.67177 0.268851111452106 0 NA NA 4.06065e-06 ENSE00000841252_000 ENSE00000841252 000 5 150496635 150496804 - 53 54 63 NA NA NA NA NA CTACATCTCAGGGACACCCGGCAGAGGTGACTGGGGTGGGCTGGGGGTCTTACCTGGGCATCTTCCCGTGCCTGGTCCAGGTTTTCTCCTCCCTCCTCACGATGCCCCTGCAGCAGGAGCAGCAAGAAAGTTCAGTCCCCAAACATCGACCCATCTCCATCTCTGTACCA 151117073 151117243 NA NA NA NA NA NA TGGTACAGAGATGGAGATGGGTCGATGTTTGGGGACTGAACTTTCTTGCTGCTCCTGCTGCAGGGGCATCGTGAGGAGGGAGGAGAAAACCTGGACCAGGCACGGGAAGATGCCCAGGTAAGACCCCCAGCCCACCCCAGTCACCTCTGCCGGGTGTCCCTGAGATGTAG TGGTACAGAGATGGAGATGGGTCGATGTTTGGGGACTGAACTTTCTTGCTGCTCCTGCTGCAGGGGCATCGTGAGGAGGGAGGAGAAAACCTGGACCAGGCACGGGAAGATGCCCAGGTAAGACCCCCAGCCCACCCCAGTCACCTCTGCCGGGTGTCCCTGAGATGTAG natural NA NA NA NA NA 369 307 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA ANXA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA6 NA NA NA ENSG00000197043 ENSE00000841252 NA NA NA NA NA NA NA 0.000183002363281359 FALSE NA ENSE00000841252_020 ENSE00000841252 020 5 150496635 150496804 - 53 54 63 G A 150496735 1927 70 CTACATCTCAGGGACACCCGGCAGAGGTGACTGGGGTGGGCTGGGGGTCTTACCTGGGCATCTTCCCGTGCCTGGTCCAGGTTTTCTCCTCCCTCCTCACAATGCCCCTGCAGCAGGAGCAGCAAGAAAGTTCAGTCCCCAAACATCGACCCATCTCCATCTCTGTACCA 151117073 151117243 151117173 151117174 151117174 exon 7 0.12962962962963 TGGTACAGAGATGGAGATGGGTCGATGTTTGGGGACTGAACTTTCTTGCTGCTCCTGCTGCAGGGGCATTGTGAGGAGGGAGGAGAAAACCTGGACCAGGCACGGGAAGATGCCCAGGTAAGACCCCCAGCCCACCCCAGTCACCTCTGCCGGGTGTCCCTGAGATGTAG TGGTACAGAGATGGAGATGGGTCGATGTTTGGGGACTGAACTTTCTTGCTGCTCCTGCTGCAGGGGCATCGTGAGGAGGGAGGAGAAAACCTGGACCAGGCACGGGAAGATGCCCAGGTAAGACCCCCAGCCCACCCCAGTCACCTCTGCCGGGTGTCCCTGAGATGTAG mutant NA NA NA NA NA 39 28 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 4.585 . missense_variant MODERATE ANXA6 HGNC 544 ENST00000354546 20/26 rs200918889 1 deleterious(0) probably_damaging(1) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0.0002 A:0.0011 CGA G,A 0.0002479 5:151117174 ANXA6 HGNC Symbol protein_coding 57170 ENSG00000197043 ENSE00000841252 missense_variant 7.855172 0.94094 0.85152 0.706298 0.999446530241448 0 0.000183002363281359 FALSE 0.000298438 ENSE00000841262_000 ENSE00000841262 000 5 150853193 150853362 + 41 99 30 NA NA NA NA NA CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG 151473631 151473801 NA NA NA NA NA NA CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG natural 11 15 1 1 1 1683 837 0.853577360455301 0.997683522471824 0.925630441463562 1 1 0.853577360455301 0.997683522471824 0 0 0 0 1 0.925630441463562 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC36A1 NA NA NA ENSG00000123643 ENSE00000841262 NA NA NA NA NA NA NA 0.0234724316059047 FALSE NA ENSE00000841262_003 ENSE00000841262 003 5 150853193 150853362 + 41 99 30 G C 150853218 1987 26 CTTTTGCTTTGTTTTGCTTTGTTTTCCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG 151473631 151473801 151473656 151473657 151473657 upstr_intron -16 -0.365853658536585 CTTTTGCTTTGTTTTGCTTTGTTTTCCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG mutant NA NA NA NA NA 49 552 1 1 1 1 1 0.853577360455301 0.997683522471824 NA NA 0.146422639544699 0.00231647752817576 1 0.925630441463562 NA 0.0743695585364376 NA FALSE NA 0.984 0.089 NA NA NA RNA5SP197 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151473657 SLC36A1 HGNC Symbol protein_coding 55335 ENSG00000123643 ENSE00000841262 intron_variant -0.084702 0.63814 0.0839 0.062308 0.48564713776517 0.0476178 0.0234724316059047 FALSE 9.41221e-06 ENSE00000841262_008 ENSE00000841262 008 5 150853193 150853362 + 41 99 30 C T 150853269 1992 77 CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCTCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG 151473631 151473801 151473707 151473708 151473708 exon 36 0.363636363636364 CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCTCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG mutant NA NA NA NA NA 341 131 1 1 1 1 1 0.853577360455301 0.997683522471824 NA NA 0.146422639544699 0.00231647752817576 1 0.925630441463562 NA 0.0743695585364376 NA FALSE NA 0 -2.632 . downstream_gene_variant MODIFIER RNA5SP197 HGNC 43097 ENST00000363357 1 NA CCC C,T 8.236e-06 5:151473708 SLC36A1 HGNC Symbol protein_coding 55335 ENSG00000123643 ENSE00000841262 synonymous_variant 1.428034 0.07504 0.03082 0.615465 0.68965407259532 0 0.0234724316059047 FALSE 4.06597e-06 ENSE00000841262_011 ENSE00000841262 011 5 150853193 150853362 + 41 99 30 G A 150853305 1995 113 CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCAATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG 151473631 151473801 151473743 151473744 151473744 exon -28 0.727272727272727 CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCAATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG CTTTTGCTTTGTTTTGCTTTGTTTTGCTTTCTGTCTTTCAGAGGATCCCAGACCCCAGCCACCTCCCCTTGGTGGCCCCTTGGAAGACCTACCCTCTCTTCTTTGGCACAGCGATTTTTTCATTTGAAGGCATTGGAATGGTAAGAGCTGCACTGTGATTTGGGCTAGTG mutant NA NA NA NA NA 626 74 0.99729621973089 1 0.998648109865445 1 1 0.853577360455301 0.997683522471824 NA NA 0.14371885927559 0.00231647752817576 1 0.925630441463562 NA 0.0730176684018827 NA FALSE NA 0.013 -1.026 . downstream_gene_variant MODIFIER RNA5SP197 HGNC 43097 ENST00000363357 rs375738863 1 NA A:0.0002 A:0 CGA G,A 8.236e-06 5:151473744 SLC36A1 HGNC Symbol protein_coding 55335 ENSG00000123643 ENSE00000841262 synonymous_variant 1.431719 0.9678 0.11166 0.615465 0.725022756056099 0 0.0234724316059047 FALSE 1.21906e-05 ENSE00000843141_000 ENSE00000843141 000 X 18961798 18961967 - 30 99 41 NA NA NA NA NA GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG 18943679 18943849 NA NA NA NA NA NA GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG natural NA NA NA NA NA 2037 3258 0.988466995490885 0.948737330897366 0.968602163194126 NA NA 0.988466995490885 0.948737330897366 NA NA 0 0 NA 0.968602163194126 NA 0 NA FALSE NA NA NA NA NA NA PHKA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA2 NA NA NA ENSG00000044446 ENSE00000843141 NA NA NA NA NA NA NA 0.908082279776674 TRUE NA ENSE00000843141_001 ENSE00000843141 001 X 18961798 18961967 - 30 99 41 G A 18961819 211 149 GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCTTCTTGCATTTCAGAGAGCAGG 18943679 18943849 18943700 18943701 18943701 downstr_intron 9 1.31034482758621 GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCTTCTTGCATTTCAGAGAGCAGG GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG mutant NA NA NA NA NA 689 62 1 0.994863667242231 0.997431833621115 NA NA 0.988466995490885 0.948737330897366 NA NA 0.011533004509115 0.0461263363448651 NA 0.968602163194126 NA 0.02882967042699 NA FALSE NA 0 -0.152 . intron_variant MODIFIER PHKA2 HGNC 8926 ENST00000379942 7/32 rs375353132 1 NA A:0.0005 A:0 AGG G 1.647e-05 X:18943701 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843141 intron_variant 1.798922 0.13585 0.00243 0 0.849425109494458 0.170471 0.908082279776674 TRUE 5.59644e-06 ENSE00000843141_002 ENSE00000843141 002 X 18961798 18961967 - 30 99 41 C T 18961839 212 129 CCTGCTCTCTGAAATGCAAGAGGCTATTACCTGGCAGTGCTTGACCTCATCTGGCAGAACATGAATCACTGACTTGCGTCCTCCATGGGCTCCAAAAAGGTCCAGTTCATCAATTGCCTCAAGAGCTGCCTACAAACACAGGTATGAGTTACTTTTTCTTTCTAATAAAC 18943679 18943849 18943720 18943721 18943721 exon -12 0.888888888888889 GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCAAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG mutant NA NA NA NA NA 227 153 0.995754171049713 0.995114186080095 0.995434178564904 NA NA 0.988466995490885 0.948737330897366 NA NA 0.00728717555882752 0.0463768551827287 NA 0.968602163194126 NA 0.0268320153707781 NA FALSE NA 0.575 1.217 . missense_variant MODERATE PHKA2 HGNC 8926 ENST00000379942 7/33 1 tolerated(0.07) benign(0.212) NA TCG C 8.236e-06 X:18943721 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843141 missense_variant 4.107937 0.98647 0.81182 0 0.997513416057465 0 0.908082279776674 TRUE 5.59531e-06 ENSE00000843141_003 ENSE00000843141 003 X 18961798 18961967 - 30 99 41 C G 18961864 213 104 GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTCATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG 18943679 18943849 18943745 18943746 18943746 exon -37 0.636363636363636 GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTCATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG mutant NA NA NA NA NA 239 392 0.969481690330638 0.994993292555435 0.982237491443037 NA NA 0.988466995490885 0.948737330897366 NA NA -0.0189853051602467 0.046255961658069 NA 0.968602163194126 NA 0.0136353282489112 NA FALSE NA 0.997 0.429 . synonymous_variant LOW PHKA2 HGNC 8926 ENST00000379942 7/33 1 NA TCA C 8.236e-06 X:18943746 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843141 synonymous_variant 1.065493 0.98613 0.87199 0 0.821896447277822 0 0.908082279776674 TRUE 1.67825e-05 ENSE00000843141_004 ENSE00000843141 004 X 18961798 18961967 - 30 99 41 C A 18961930 214 38 GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTTTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG 18943679 18943849 18943811 18943812 18943812 upstr_intron -4 -0.0731707317073171 GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTTTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG mutant NA NA NA NA NA 225 712 0.990252320002666 0.999555492730238 0.994903906366452 NA NA 0.988466995490885 0.948737330897366 NA NA 0.00178532451178082 0.050818161832872 NA 0.968602163194126 NA 0.0263017431723264 NA FALSE NA 0.425 -0.182 . splice_region_variant&intron_variant LOW PHKA2 HGNC 8926 ENST00000379942 6/32 1 NA ACA C 2.471e-05 X:18943812 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843141 splice_region_variant 1.126903 0.96625 0.66338 0 0.593234147842703 0.166716 0.908082279776674 TRUE 5.5945e-06 ENSE00000843141_005 ENSE00000843141 005 X 18961798 18961967 - 30 99 41 T C 18961954 215 14 GTTTATTAGAAAGGAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG 18943679 18943849 18943835 18943836 18943836 upstr_intron -28 -0.658536585365854 GTTTATTAGAAAGGAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG mutant NA NA NA NA NA 1287 379 0.995907461514374 0.999899523351862 0.997903492433118 NA NA 0.988466995490885 0.948737330897366 NA NA 0.0074404660234888 0.0511621924544966 NA 0.968602163194126 NA 0.0293013292389927 NA FALSE NA 0 -0.217 . intron_variant MODIFIER PHKA2 HGNC 8926 ENST00000379942 6/32 1 NA TTC T 8.237e-06 X:18943836 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843141 intron_variant 1.060866 0.22841 0.05618 0 0.848597573678862 0.0791087 0.908082279776674 TRUE 5.60309e-06 ENSE00000843141_BRK ENSE00000843141 BRK X 18961798 18961967 - 30 99 41 A,G; T,T NA NA NA GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTTTGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGCCAATAGCCTCTTGCATTTCAGAGAGCAGG 18943679 18943849 NA NA NA NA NA NA GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTTTGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGCCAATAGCCTCTTGCATTTCAGAGAGCAGG GTTTATTAGAAAGAAAAAGTAACTCATACCTGTGTTTGTAGGCAGCTCTTGAGGCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGGTAATAGCCTCTTGCATTTCAGAGAGCAGG control NA NA NA NA NA 32 60 1 1 1 NA NA 0.988466995490885 0.948737330897366 NA NA 0.011533004509115 0.0512626691026341 NA 0.968602163194126 NA 0.0313978368058745 NA FALSE NA NA NA NA NA NA PHKA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA2 NA NA NA ENSG00000044446 ENSE00000843141 NA NA NA NA NA NA NA 0.908082279776674 TRUE NA ENSE00000843142_000 ENSE00000843142 000 X 18963157 18963326 - 39 81 50 NA NA NA NA NA TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 NA NA NA NA NA NA TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT natural 41 38 0.99394760487159 0.987192495303349 0.99057005008747 2955 2222 0.979216482367295 0.911077801184356 0.945147141775825 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 0 0 0 0 0.99057005008747 0.945147141775825 0 0 0 FALSE FALSE NA NA NA NA NA PHKA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA2 NA NA NA ENSG00000044446 ENSE00000843142 NA NA NA NA NA NA NA 0.908082279776674 TRUE NA ENSE00000843142_001 ENSE00000843142 001 X 18963157 18963326 - 39 81 50 C T 18963210 216 117 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCATAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945091 18945092 18945092 exon -15 0.827160493827161 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCATAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 116 1274 1 0.998796099807344 0.999398049903672 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA 0.0207835176327051 0.0877182986229879 0.99057005008747 0.945147141775825 NA 0.0542509081278465 NA FALSE NA 1 3.238 . missense_variant MODERATE PHKA2 HGNC 8926 ENST00000379942 6/33 COSM3747402 1 tolerated(0.98) benign(0.123) NA ACG C 4.942e-05 X:18945092 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 missense_variant 1.768522 0.99203 0.96419 0 0.359496229536964 0 0.908082279776674 TRUE 3.91576e-05 ENSE00000843142_003 ENSE00000843142 003 X 18963157 18963326 - 39 81 50 T C 18963221 218 106 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAGTGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945102 18945103 18945103 exon -26 0.691358024691358 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAGTGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 5735 554 0.946819535018721 0.94833259801973 0.947576066519225 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA -0.0323969473485743 0.037254796835374 0.99057005008747 0.945147141775825 NA 0.00242892474339984 NA FALSE NA 1 7.953 . missense_variant MODERATE PHKA2 HGNC 8926 ENST00000379942 6/33 1 deleterious(0) possibly_damaging(0.893) NA ATT T 8.236e-06 X:18945103 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 missense_variant 3.984436 0.99369 0.99038 0 0.9982444437497 0 0.908082279776674 TRUE 5.59347e-06 ENSE00000843142_004 ENSE00000843142 004 X 18963157 18963326 - 39 81 50 C T 18963229 219 98 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCAGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945110 18945111 18945111 exon -34 0.592592592592593 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCAGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 2026 1157 0.905350143082409 0.849045146737008 0.877197644909709 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA -0.0738663392848855 -0.0620326544473481 0.99057005008747 0.945147141775825 NA -0.0679494968661168 NA FALSE NA 0 -4.275 rs143424727 synonymous_variant LOW PHKA2 HGNC 8926 ENST00000379942 6/33 rs143424727 1 NA T:0 T:0.0001 CCG C 4.118e-05 X:18945111 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 synonymous_variant 0.940161 0.11942 0.01725 0 0.409005350258882 0 0.908082279776674 TRUE 1.67803e-05 ENSE00000843142_005 ENSE00000843142 005 X 18963157 18963326 - 39 81 50 A T 18963244 220 83 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACAAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945125 18945126 18945126 exon 33 0.407407407407407 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACAAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 292 2346 0.993022969958915 0.998192241121962 0.995607605540439 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA 0.0138064875916206 0.0871144399376063 0.99057005008747 0.945147141775825 NA 0.0504604637646134 NA FALSE NA 0.084 -0.697 . synonymous_variant LOW PHKA2 HGNC 8926 ENST00000379942 6/33 1 NA TAG A 8.236e-06 X:18945126 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 synonymous_variant -1.054932 0.09904 0.04946 0 0.602863597363976 0 0.908082279776674 TRUE NA ENSE00000843142_006 ENSE00000843142 006 X 18963157 18963326 - 39 81 50 C T 18963259 221 68 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAACGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945140 18945141 18945141 exon 18 0.222222222222222 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAACGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 471 422 0.984343493059896 0.998164796495115 0.991254144777505 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA 0.00512701069260146 0.0870869953107585 0.99057005008747 0.945147141775825 NA 0.04610700300168 NA FALSE NA 0.992 0.292 . synonymous_variant LOW PHKA2 HGNC 8926 ENST00000379942 6/33 1 NA GCT C 5.765e-05 X:18945141 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 synonymous_variant 1.373902 0.97044 0.29346 0 0.50319178954469 0 0.908082279776674 TRUE 2.79719e-05 ENSE00000843142_007 ENSE00000843142 007 X 18963157 18963326 - 39 81 50 T C 18963267 222 60 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAGTGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945148 18945149 18945149 exon 10 0.123456790123457 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAGTGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 375 617 1 0.99993829596735 0.999969147983675 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA 0.0207835176327051 0.0888604947829938 0.99057005008747 0.945147141775825 NA 0.0548220062078495 NA FALSE NA 1 7.996 . missense_variant MODERATE PHKA2 HGNC 8926 ENST00000379942 6/33 1 tolerated(0.15) benign(0.062) NA ATT T 8.236e-06 X:18945149 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 missense_variant 1.781171 0.99505 0.99775 0 0.973268209946964 0 0.908082279776674 TRUE 1.11904e-05 ENSE00000843142_008 ENSE00000843142 008 X 18963157 18963326 - 39 81 50 G A 18963291 223 36 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACTTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945172 18945173 18945173 upstr_intron -15 -0.28 TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACTTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 842 786 1 0.986065426333787 0.993032713166894 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA 0.0207835176327051 0.0749876251494314 0.99057005008747 0.945147141775825 NA 0.0478855713910682 NA FALSE NA 0.835 0.512 . intron_variant MODIFIER PHKA2 HGNC 8926 ENST00000379942 5/32 1 NA AGG G 7.413e-05 X:18945173 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 intron_variant 0.047654 0.30305 0.2367 0 0.456049554575457 0.121998 0.908082279776674 TRUE 4.48405e-05 ENSE00000843142_009 ENSE00000843142 009 X 18963157 18963326 - 39 81 50 C G 18963300 224 27 TTCTTATATACCTCTTTCTCCCCTCTCATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945181 18945182 18945182 upstr_intron -24 -0.46 TTCTTATATACCTCTTTCTCCCCTCTCATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 910 808 0.998314611200924 0.999804217148003 0.999059414174463 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA 0.0190981288336287 0.0887264159636467 0.99057005008747 0.945147141775825 NA 0.0539122723986377 NA FALSE NA 0.996 0.966 . intron_variant MODIFIER PHKA2 HGNC 8926 ENST00000379942 5/32 rs368258576 1 NA G:0 G:0.0001 TCA C 8.237e-06 X:18945182 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 intron_variant 0.365695 0.28092 0.1521 0 0.5785339881881 0.121998 0.908082279776674 TRUE 5.62272e-06 ENSE00000843142_010 ENSE00000843142 010 X 18963157 18963326 - 39 81 50 A C 18963312 225 15 TTCTTATATACCTCGTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 18945193 18945194 18945194 upstr_intron -36 -0.7 TTCTTATATACCTCGTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT mutant NA NA NA NA NA 1018 4638 0.995927796897352 0.96401434056127 0.979971068729311 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 NA NA 0.0167113145300573 0.0529365393769134 0.99057005008747 0.945147141775825 NA 0.0348239269534854 NA FALSE NA 0.254 0.85 . intron_variant MODIFIER PHKA2 HGNC 8926 ENST00000379942 5/32 rs372125017 1 NA C:0 C:0.0003 AAG A 2.471e-05 X:18945194 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00000843142 intron_variant -0.044797 0.32421 0.16902 0 0.709910120425013 0.176883 0.908082279776674 TRUE 4.55109e-05 ENSE00000843142_BRK ENSE00000843142 BRK X 18963157 18963326 - 39 81 50 A,G; T,T NA NA NA TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCTTGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGCCGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT 18945038 18945208 NA NA NA NA NA NA TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCTTGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGCCGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT TTCTTATATACCTCTTTCTCCCCTCTGATTCCCACCTTTTTCTCCCCCAGGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGTGACAGTTGTCCTGTTTGTTCTTCCTTCTGCATGTTTT control 59 15 0 0 0 522 1184 0.281236513881644 0.296876261090301 0.289056387485973 0.99394760487159 0.987192495303349 0.979216482367295 0.911077801184356 -0.99394760487159 -0.987192495303349 -0.69797996848565 -0.614201540094055 0.99057005008747 0.945147141775825 -0.99057005008747 -0.656090754289853 0.334479295797617 TRUE TRUE NA NA NA NA NA PHKA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA2 NA NA NA ENSG00000044446 ENSE00000843142 NA NA NA NA NA NA NA 0.908082279776674 TRUE NA ENSE00000844578_000 ENSE00000844578 000 16 70796396 70796565 - 47 66 57 NA NA NA NA NA ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 NA NA NA NA NA NA ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC natural 19 17 0.999551047168955 1 0.999775523584477 465 1735 0.996524872503171 0.995598193029675 0.996061532766423 0.999551047168955 1 0.996524872503171 0.995598193029675 0 0 0 0 0.999775523584477 0.996061532766423 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003614909 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00000844578_005 ENSE00000844578 005 16 70796396 70796565 - 47 66 57 A T 70796415 2523 151 GCAGGGCAGCCGATGTTCCTTAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGT 70762492 70762662 70762511 70762512 70762512 downstr_intron 28 1.60869565217391 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTAAGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 1288 406 0.997611865291077 1 0.998805932645539 0.999551047168955 1 0.996524872503171 0.995598193029675 NA NA 0.00108699278790614 0.00440180697032455 0.999775523584477 0.996061532766423 NA 0.00274439987911534 NA FALSE NA 0 -0.821 NA NA NA VAC14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAC14 NA NA NA ENSG00000103043 ENSE00003614909 intron_variant -0.018687 0.16936 0.0569 0.295142 0.488689711122107 0.046875 0.629700168448247 FALSE 8.15308e-06 ENSE00000844578_BRK ENSE00000844578 BRK 16 70796396 70796565 - 47 66 57 A,G; T,T NA NA NA ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCTTATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGCCAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 NA NA NA NA NA NA ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCTTATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGCCAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC control 74 22 0 0 0 19 484 0 0.0066883082020432 0.0033441541010216 0.999551047168955 1 0.996524872503171 0.995598193029675 -0.999551047168955 -1 -0.996524872503171 -0.988909884827632 0.999775523584477 0.996061532766423 -0.999775523584477 -0.992717378665402 0.00705814491907586 TRUE TRUE NA NA NA NA NA VAC14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAC14 NA NA NA ENSG00000103043 ENSE00003614909 NA NA NA NA NA NA NA 0.629700168448247 FALSE NA ENSE00000844709_000 ENSE00000844709 000 20 39743955 39744124 + 56 69 45 NA NA NA NA NA CTCTGGCTGGGACTCCCTTCAACATTGTGTGCTTCATCTACTCACATTGAGTCTATCAAAAAGATCATCCTCGGGCTGCTTGTTCTCCATAAATAGTTGTAGGTTCTTAAAAACCTAAAAGATATAAGTGAATCCTAATTATTACTCTTGAAAAAAATCCTAACTTTAGA 41115314 41115484 NA NA NA NA NA NA TCTAAAGTTAGGATTTTTTTCAAGAGTAATAATTAGGATTCACTTATATCTTTTAGGTTTTTAAGAACCTACAACTATTTATGGAGAACAAGCAGCCCGAGGATGATCTTTTTGATAGACTCAATGTGAGTAGATGAAGCACACAATGTTGAAGGGAGTCCCAGCCAGAG TCTAAAGTTAGGATTTTTTTCAAGAGTAATAATTAGGATTCACTTATATCTTTTAGGTTTTTAAGAACCTACAACTATTTATGGAGAACAAGCAGCCCGAGGATGATCTTTTTGATAGACTCAATGTGAGTAGATGAAGCACACAATGTTGAAGGGAGTCCCAGCCAGAG natural NA NA NA NA NA 89 21 0.8 0.95 0.875 NA NA 0.8 0.95 NA NA 0 0 NA 0.875 NA 0 NA FALSE NA NA NA NA NA NA TOP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOP1 NA NA NA ENSG00000198900 ENSE00000844709 NA NA NA NA NA NA NA 0.999999399962319 TRUE NA ENSE00000844809_000 ENSE00000844809 000 20 40122462 40122631 - 36 87 47 NA NA NA NA NA GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 NA NA NA NA NA NA GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT natural 253 177 0.846041518035438 0.746334253761325 0.796187885898382 5020 2661 0.793742819770702 0.775726503708557 0.78473466173963 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 0 0 0 0 0.796187885898382 0.78473466173963 0 0 0 FALSE FALSE NA NA NA NA NA CHD6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHD6 NA NA NA ENSG00000124177 ENSE00000844809 NA NA NA NA NA NA NA 0.99999999999754 TRUE NA ENSE00000844809_002 ENSE00000844809 002 20 40122462 40122631 - 36 87 47 G C 40122480 1292 152 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCGTGAAGCATCTTCCCTTCT 41493821 41493991 41493839 41493840 41493840 downstr_intron 18 1.51428571428571 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCGTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 657 156 0.972257142208 0.951728468740623 0.961992805474311 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA 0.178514322437298 0.176001965032066 0.796187885898382 0.78473466173963 NA 0.177258143734682 NA FALSE NA 0 -0.033 . downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 1 NA AGG G,C 4.943e-05 20:41493840 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 intron_variant -0.027632 0.20029 0.08356 0.163922 0.45044575565864 0.0912953 0.99999999999754 TRUE 3.67827e-05 ENSE00000844809_003 ENSE00000844809 003 20 40122462 40122631 - 36 87 47 G A 40122481 1293 151 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTTCTGAAGCATCTTCCCTTCT 41493821 41493991 41493840 41493841 41493841 downstr_intron 17 1.48571428571429 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTTCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 1334 248 0.960209324616693 0.983137846083389 0.971673585350041 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA 0.166466504845991 0.207411342374832 0.796187885898382 0.78473466173963 NA 0.186938923610411 NA FALSE NA 0 0.201 . downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 1 NA GGA G,A 2.471e-05 20:41493841 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 intron_variant 0.295819 0.20529 0.15444 0.163922 0.502179034880725 0.0907973 0.99999999999754 TRUE 1.22566e-05 ENSE00000844809_004 ENSE00000844809 004 20 40122462 40122631 - 36 87 47 C G 40122495 1294 137 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTCGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 41493854 41493855 41493855 downstr_intron 3 1.08571428571429 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTCGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 39 2341 0 0.00579818354871369 0.00289909177435685 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA -0.793742819770702 -0.769928320159844 0.796187885898382 0.78473466173963 NA -0.781835569965273 NA TRUE NA 0.02 -0.251 . downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 1 NA CCA C,G 8.238e-06 20:41493855 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 splice_region_variant 1.349883 0.9431 0.57742 0.163922 0.725983175145881 0.536405 0.99999999999754 TRUE 4.07887e-06 ENSE00000844809_005 ENSE00000844809 005 20 40122462 40122631 - 36 87 47 G A 40122522 1295 110 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCATACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 41493881 41493882 41493882 exon -25 0.724137931034483 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCATACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 52 3224 0.725854695575734 0.82147263169937 0.773663663637552 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA -0.0678881241949675 0.0457461279908125 0.796187885898382 0.78473466173963 NA -0.0110709981020775 NA FALSE NA 1 2.454 rs145008801 downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 rs145008801 1 NA A:0 A:0.0001 TGT G,A 4.118e-05 20:41493882 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 synonymous_variant 0.679824 0.9652 0.90447 0.706548 0.589321676273349 0 0.99999999999754 TRUE 3.25775e-05 ENSE00000844809_006 ENSE00000844809 006 20 40122462 40122631 - 36 87 47 T C 40122523 1296 109 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCGCACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 41493882 41493883 41493883 exon -26 0.71264367816092 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCGCACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 237 1447 0.949078272782955 0.93542582641917 0.942252049601062 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA 0.155335453012253 0.159699322710612 0.796187885898382 0.78473466173963 NA 0.157517387861433 NA FALSE NA 1 4.852 rs149077493 downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 rs149077493 1 NA C:0 C:0.0002 GTG T,C 0.0001153 20:41493883 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 missense_variant 1.656525 0.98507 0.95722 0.706548 0.975526287218046 0 0.99999999999754 TRUE 8.14359e-05 ENSE00000844809_009 ENSE00000844809 009 20 40122462 40122631 - 36 87 47 A G 40122572 1299 60 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACCTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 41493931 41493932 41493932 exon 13 0.149425287356322 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACCTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 117 397 0.948805838925889 0.958385244905659 0.953595541915774 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA 0.155063019155187 0.182658741197101 0.796187885898382 0.78473466173963 NA 0.168860880176144 NA FALSE NA 0.983 1.232 . downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 1 NA AAG A,G 8.237e-05 20:41493932 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 synonymous_variant 0.648513 0.97368 0.9386 0.732398 0.792710479511714 0 0.99999999999754 TRUE 4.88595e-05 ENSE00000844809_010 ENSE00000844809 010 20 40122462 40122631 - 36 87 47 C A 40122589 1300 43 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTTTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 41493948 41493949 41493949 upstr_intron -5 -0.0851063829787234 GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTTTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 1263 990 0.998722253528078 0.999498693808256 0.999110473668167 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA 0.204979433757376 0.223772190099699 0.796187885898382 0.78473466173963 NA 0.214375811928537 NA FALSE NA 0 -0.525 . downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 1 NA ACA C,A 1.648e-05 20:41493949 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 splice_region_variant 0.291809 0.17625 0.10268 0.106106 0.470718422650247 0.255608 0.99999999999754 TRUE NA ENSE00000844809_012 ENSE00000844809 012 20 40122462 40122631 - 36 87 47 G A 40122600 1302 32 GAGGCAAGGGGACATACTTCCTAACTGTTCTTCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 41493959 41493960 41493960 upstr_intron -16 -0.319148936170213 GAGGCAAGGGGACATACTTCCTAACTGTTCTTCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 331 514 0.993218376755172 0.992315747510245 0.992767062132708 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA 0.19947555698447 0.216589243801687 0.796187885898382 0.78473466173963 NA 0.208032400393079 NA FALSE NA 0 0.155 . downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 rs200693921 1 NA A:0.0002 A:0.0001 GGA G,A 0.000173 20:41493960 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 intron_variant -0.104338 0.21248 0.13109 0.106106 0.421975196741788 0.166294 0.99999999999754 TRUE 0.000159068 ENSE00000844809_013 ENSE00000844809 013 20 40122462 40122631 - 36 87 47 G A 40122607 1303 25 GAGGCAAGGGGACATACTTCCTAATTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 41493966 41493967 41493967 upstr_intron -23 -0.468085106382979 GAGGCAAGGGGACATACTTCCTAATTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT mutant NA NA NA NA NA 603 875 0.800267189604931 0.930466888612351 0.865367039108641 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA 0.00652436983422866 0.154740384903794 0.796187885898382 0.78473466173963 NA 0.0806323773690111 NA FALSE NA 0.673 0.843 . downstream_gene_variant MODIFIER CHD6 HGNC 19057 ENST00000470470 rs567901180 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGT G,A 0.0001153 20:41493967 CHD6 HGNC Symbol protein_coding 216393 ENSG00000124177 ENSE00000844809 intron_variant 0.580328 0.23671 0.27575 0.106106 0.703717840624909 0.166294 0.99999999999754 TRUE 8.98583e-05 ENSE00000844809_BRK ENSE00000844809 BRK 20 40122462 40122631 - 36 87 47 A,G; T,T NA NA NA GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTTTCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGCCGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT 41493821 41493991 NA NA NA NA NA NA GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTTTCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGCCGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT GAGGCAAGGGGACATACTTCCTAACTGTTCTCCTCTGTTTGTGTTAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCACACCAAGGATGCAGAAACAGGGGAGGTGGGTATTTGCCTCTCCTGAAGCATCTTCCCTTCT control NA NA NA NA NA 263 280 0 0 0 0.846041518035438 0.746334253761325 0.793742819770702 0.775726503708557 NA NA -0.793742819770702 -0.775726503708557 0.796187885898382 0.78473466173963 NA -0.78473466173963 NA TRUE NA NA NA NA NA NA CHD6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHD6 NA NA NA ENSG00000124177 ENSE00000844809 NA NA NA NA NA NA NA 0.99999999999754 TRUE NA ENSE00000844983_000 ENSE00000844983 000 20 44006137 44006306 - 42 75 53 NA NA NA NA NA CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 NA NA NA NA NA NA CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT natural 151 482 0.932837629971919 0.777548475061304 0.855193052516611 3187 2232 0.943671001607588 0.941426170669121 0.942548586138354 0.932837629971919 0.777548475061304 0.943671001607588 0.941426170669121 0 0 0 0 0.855193052516611 0.942548586138354 0 0 0 FALSE FALSE NA NA NA NA NA TP53TG5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TP53TG5 NA NA NA ENSG00000124251 ENSE00003663784 NA NA NA NA NA NA NA 3.30244359376843e-06 FALSE NA ENSE00000844983_BRK ENSE00000844983 BRK 20 44006137 44006306 - 42 75 53 A,G; T,T NA NA NA CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCTTATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGCCGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 NA NA NA NA NA NA CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCTTATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGCCGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT control 504 160 0.0385973918271954 0 0.0192986959135977 NA NA NA NA NA 0.932837629971919 0.777548475061304 0.943671001607588 0.941426170669121 -0.894240238144723 -0.777548475061304 NA NA 0.855193052516611 0.942548586138354 -0.835894356603013 NA NA NA TRUE NA NA NA NA NA TP53TG5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TP53TG5 NA NA NA ENSG00000124251 ENSE00003663784 NA NA NA NA NA NA NA 3.30244359376843e-06 FALSE NA ENSE00000845336_000 ENSE00000845336 000 20 47364302 47364471 - 44 72 54 NA NA NA NA NA CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 NA NA NA NA NA NA CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG natural 113 108 0.992987401979601 0.976646672393211 0.984817037186406 1325 3221 0.992168122446684 0.981352946234809 0.986760534340746 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 0 0 0 0 0.984817037186406 0.986760534340746 0 0 0 FALSE FALSE NA NA NA NA NA PREX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PREX1 NA NA NA ENSG00000124126 ENSE00000845336 NA NA NA NA NA NA NA 0.999999621898147 TRUE NA ENSE00000845336_003 ENSE00000845336 003 20 47364302 47364471 - 44 72 54 A G 47364317 1535 155 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCCAGAGCATCTGTGTTG 48747764 48747934 48747779 48747780 48747780 downstr_intron 29 1.67441860465116 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCCAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 11 173 1 1 1 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA 0.00783187755331638 0.0186470537651909 0.984817037186406 0.986760534340746 NA 0.0132394656592537 NA FALSE NA 0 0.016 . intron_variant MODIFIER PREX1 HGNC 32594 ENST00000396220 2/38 1 NA TAG A,G 8.237e-06 20:48747780 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 intron_variant 0.167111 0.13559 0.00492 0.139865 0.307190010725928 0.0799788 0.999999621898147 TRUE 4.18578e-06 ENSE00000845336_008 ENSE00000845336 008 20 47364302 47364471 - 44 72 54 C A 47364331 1540 141 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGTCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 48747793 48747794 48747794 downstr_intron 15 1.34883720930233 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGTCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 29 32 1 1 1 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA 0.00783187755331638 0.0186470537651909 0.984817037186406 0.986760534340746 NA 0.0132394656592537 NA FALSE NA 0.001 0.481 . intron_variant MODIFIER PREX1 HGNC 32594 ENST00000396220 2/38 1 NA GCC C,A 8.237e-06 20:48747794 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 intron_variant -0.03095 0.19947 0.0796 0.139865 0.467136138924597 0.062439 0.999999621898147 TRUE NA ENSE00000845336_010 ENSE00000845336 010 20 47364302 47364471 - 44 72 54 C T 47364337 1542 135 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACACTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 48747799 48747800 48747800 downstr_intron 9 1.2093023255814 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACACTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 405 454 1 0.99991613065483 0.999958065327415 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA 0.00783187755331638 0.0185631844200209 0.984817037186406 0.986760534340746 NA 0.0131975309866686 NA FALSE NA 0 -4.351 . intron_variant MODIFIER PREX1 HGNC 32594 ENST00000396220 2/38 1 NA GCG C,T 0.0001565 20:48747800 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 intron_variant -0.063696 0.12647 0.01902 0.139865 0.787312159710133 0.0867134 0.999999621898147 TRUE 0.000131682 ENSE00000845336_012 ENSE00000845336 012 20 47364302 47364471 - 44 72 54 C A 47364340 1544 132 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGTACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 48747802 48747803 48747803 downstr_intron 6 1.13953488372093 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGTACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 328 245 0.998484583652251 1 0.999242291826125 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA 0.00631646120556717 0.0186470537651909 0.984817037186406 0.986760534340746 NA 0.0124817574853791 NA FALSE NA 0 -0.304 . splice_region_variant&intron_variant LOW PREX1 HGNC 32594 ENST00000396220 2/38 1 NA TCC C,A 1.647e-05 20:48747803 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 splice_region_variant 0.695008 0.20048 0.10935 0.139865 0.599050779274434 0.214408 0.999999621898147 TRUE 8.20856e-06 ENSE00000845336_014 ENSE00000845336 014 20 47364302 47364471 - 44 72 54 G A 47364380 1546 92 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTTAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 48747842 48747843 48747843 exon -35 0.527777777777778 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTTAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 38 89 1 1 1 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA 0.00783187755331638 0.0186470537651909 0.984817037186406 0.986760534340746 NA 0.0132394656592537 NA FALSE NA 0.987 2.633 . missense_variant MODERATE PREX1 HGNC 32594 ENST00000396220 2/39 1 benign(0.008) NA TGA G,A 1.647e-05 20:48747843 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 missense_variant 3.106182 0.82807 0.69305 0.722319 0.995616974053926 0 0.999999621898147 TRUE 2.04225e-05 ENSE00000845336_015 ENSE00000845336 015 20 47364302 47364471 - 44 72 54 G A 47364385 1547 87 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCTGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 48747847 48747848 48747848 exon 33 0.458333333333333 CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCTGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 39 473 1 1 1 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA 0.00783187755331638 0.0186470537651909 0.984817037186406 0.986760534340746 NA 0.0132394656592537 NA FALSE NA 0 -5.561 . synonymous_variant LOW PREX1 HGNC 32594 ENST00000396220 2/39 rs199883390 1 NA A:0 A:0.0001 CGG G,A 3.295e-05 20:48747848 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 synonymous_variant 0.574456 0.12588 0.02549 0.722319 0.680103817882699 0 0.999999621898147 TRUE 6.53723e-05 ENSE00000845336_021 ENSE00000845336 021 20 47364302 47364471 - 44 72 54 G A 47364441 1553 31 CCATGGGAGAGCTGGAGACGCGGACACTCATCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 48747903 48747904 48747904 upstr_intron -24 -0.425925925925926 CCATGGGAGAGCTGGAGACGCGGACACTCATCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 258 16 0.97561896554464 1 0.98780948277232 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA -0.0165491569020439 0.0186470537651909 0.984817037186406 0.986760534340746 NA 0.00104894843157349 NA FALSE NA 0.96 0.452 . intron_variant MODIFIER PREX1 HGNC 32594 ENST00000396220 1/38 1 NA GGT G,A 8.24e-06 20:48747904 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 intron_variant 0.967185 0.78682 0.33707 0.087844 0.799942719534449 0.214224 0.999999621898147 TRUE 4.22579e-06 ENSE00000845336_025 ENSE00000845336 025 20 47364302 47364471 - 44 72 54 C T 47364452 1557 20 CCATGGGAGAGCTGGAGACACGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 48747914 48747915 48747915 upstr_intron -35 -0.62962962962963 CCATGGGAGAGCTGGAGACACGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 555 651 1 0.998166928118987 0.999083464059494 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA 0.00783187755331638 0.0168139818841783 0.984817037186406 0.986760534340746 NA 0.0123229297187473 NA FALSE NA 0 -3.079 rs140209816 intron_variant MODIFIER PREX1 HGNC 32594 ENST00000396220 1/38 rs140209816 1 T:0.0046 T:0.0015 T:0.013 NA T:0 T:0.0109 T:0.001 T:0.002 T:0.0147 GCG C,T 0.012 20:48747915 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 intron_variant 0.021235 0.16674 0.02687 0.087844 0.668872208060927 0.0568529 0.999999621898147 TRUE 0.0132166 ENSE00000845336_027 ENSE00000845336 027 20 47364302 47364471 - 44 72 54 C T 47364461 1559 11 CCATGGGAGAACTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 48747923 48747924 48747924 upstr_intron -44 -0.796296296296296 CCATGGGAGAACTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG mutant NA NA NA NA NA 508 96 1 1 1 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 NA NA 0.00783187755331638 0.0186470537651909 0.984817037186406 0.986760534340746 NA 0.0132394656592537 NA FALSE NA 0.001 0.044 . intron_variant MODIFIER PREX1 HGNC 32594 ENST00000396220 1/38 1 NA GCT C,T 8.248e-06 20:48747924 PREX1 HGNC Symbol protein_coding 203631 ENSG00000124126 ENSE00000845336 intron_variant -0.024022 0.15412 0.00332 0.087844 0.545559858306473 0.0568529 0.999999621898147 TRUE NA ENSE00000845336_BRK ENSE00000845336 BRK 20 47364302 47364471 - 44 72 54 A,G; T,T NA NA NA CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCTTGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGCCGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG 48747764 48747934 NA NA NA NA NA NA CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCTTGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGCCGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG CCATGGGAGAGCTGGAGACGCGGACACTCACCTCTCTCTGCTTCTCTCCTCCAGGCATTCCTGCATCGCATCCGGCAGAACGTGGCCGACTCAGTGGAGAAGGGCCTCACGGAGGAGAATGTCAAGGTGTGGACGCTGGGGCTGGCCCCTGTTCTAGAGCATCTGTGTTG control 225 90 0 0 0 NA NA NA NA NA 0.992987401979601 0.976646672393211 0.992168122446684 0.981352946234809 -0.992987401979601 -0.976646672393211 NA NA 0.984817037186406 0.986760534340746 -0.984817037186406 NA NA NA TRUE NA NA NA NA NA PREX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PREX1 NA NA NA ENSG00000124126 ENSE00000845336 NA NA NA NA NA NA NA 0.999999621898147 TRUE NA ENSE00000845547_000 ENSE00000845547 000 20 47868032 47868201 - 32 96 42 NA NA NA NA NA TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 NA NA NA NA NA NA TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG natural 103 116 0.988571600764452 0.997350677093523 0.992961138928987 2548 2307 0.899542510744525 0.993308510947658 0.946425510846092 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 0 0 0 0 0.992961138928987 0.946425510846092 0 0 0 FALSE FALSE NA NA NA NA NA ZNFX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNFX1 NA NA NA ENSG00000124201 ENSE00000845547 NA NA NA NA NA NA NA 0.999981099240724 TRUE NA ENSE00000845547_001 ENSE00000845547 001 20 47868032 47868201 - 32 96 42 G C 47868043 1611 159 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATGTTTCTTGGATG 49251494 49251664 49251505 49251506 49251506 downstr_intron 21 1.67741935483871 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATGTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 414 88 0.988664916905777 1 0.994332458452889 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0891224061612522 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0479069476067971 NA FALSE NA 0 -0.518 . intron_variant MODIFIER ZNFX1 HGNC 29271 ENST00000371752 13/13 1 NA AGA G,C 8.236e-06 20:49251506 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 intron_variant 0.344367 0.2313 0.10904 0.115753 0.594587858837554 0.128158 0.999981099240724 TRUE 8.3042e-06 ENSE00000845547_002 ENSE00000845547 002 20 47868032 47868201 - 32 96 42 C T 47868046 1612 156 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCAATCTTTCTTGGATG 49251494 49251664 49251508 49251509 49251509 downstr_intron 18 1.58064516129032 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCAATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 1332 284 0.997284713965989 1 0.998642356982995 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0977422032214643 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0522168461369031 NA FALSE NA 0 -1.102 . intron_variant MODIFIER ZNFX1 HGNC 29271 ENST00000371752 13/13 rs372049750 1 NA T:0 T:0.0002 TCG C,T 0.0003295 20:49251509 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 intron_variant -0.105571 0.17131 0.04004 0.115753 0.605704677509354 0.128158 0.999981099240724 TRUE 0.00031198 ENSE00000845547_003 ENSE00000845547 003 20 47868032 47868201 - 32 96 42 C G 47868055 1613 147 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTCTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251517 49251518 49251518 downstr_intron 9 1.29032258064516 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTCTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 1027 904 0.998710609126248 1 0.999355304563124 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0991680983817228 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0529297937170324 NA FALSE NA 0.002 -0.367 . intron_variant MODIFIER ZNFX1 HGNC 29271 ENST00000371752 13/13 rs575685130 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 ACA C,G 8.236e-06 20:49251518 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 intron_variant -0.044038 0.21812 0.05527 0.256867 0.549420417529624 0.141434 0.999981099240724 TRUE 4.09541e-06 ENSE00000845547_004 ENSE00000845547 004 20 47868032 47868201 - 32 96 42 C T 47868061 1614 141 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTAAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251523 49251524 49251524 downstr_intron 3 1.09677419354839 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTAAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 262 337 1 1 1 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.100457489255475 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0535744891539084 NA FALSE NA 0.992 0.168 . splice_region_variant&intron_variant LOW ZNFX1 HGNC 29271 ENST00000371752 13/13 1 NA TCA C,T 8.236e-06 20:49251524 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 splice_region_variant 1.78191 0.90311 0.71555 0.256867 0.691386504364382 0.482821 0.999981099240724 TRUE NA ENSE00000845547_005 ENSE00000845547 005 20 47868032 47868201 - 32 96 42 C T 47868064 1615 138 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAAGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251526 49251527 49251527 exon -1 1 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAAGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 322 923 0.0201620570069098 0 0.0100810285034549 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA -0.879380453737615 -0.993308510947658 0.992961138928987 0.946425510846092 NA -0.936344482342637 NA TRUE NA 1 1.683 rs144375900 splice_region_variant&synonymous_variant LOW ZNFX1 HGNC 29271 ENST00000371752 13/14 rs144375900 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0006 CCT C,T 0.0009801 20:49251527 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 splice_region_variant 1.977239 0.92581 0.85944 0.706548 0.799051302624725 0 0.999981099240724 TRUE 0.000849056 ENSE00000845547_007 ENSE00000845547 007 20 47868032 47868201 - 32 96 42 A C 47868086 1617 116 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGGTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251548 49251549 49251549 exon -23 0.770833333333333 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGGTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 375 158 0.999229260411938 0.997305679961474 0.998267470186706 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0996867496674128 0.00399716901381642 0.992961138928987 0.946425510846092 NA 0.0518419593406146 NA FALSE NA 1 9.167 . missense_variant MODERATE ZNFX1 HGNC 29271 ENST00000371752 13/14 1 deleterious(0) probably_damaging(1) NA AAC A,C 8.236e-06 20:49251549 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 missense_variant 6.192657 0.97812 0.98868 0.732398 0.997167142627718 0 0.999981099240724 TRUE 4.07289e-06 ENSE00000845547_008 ENSE00000845547 008 20 47868032 47868201 - 32 96 42 T C 47868091 1618 111 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCGTCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251553 49251554 49251554 exon -28 0.71875 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCGTCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 1264 787 0.998246089214453 1 0.999123044607227 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0987035784699283 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0526975337611351 NA FALSE NA 0.077 -0.685 . synonymous_variant LOW ZNFX1 HGNC 29271 ENST00000371752 13/14 rs376752976 1 NA C:0 C:0.0001 ATG T,C 7.413e-05 20:49251554 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 synonymous_variant 0.479536 0.41518 0.19882 0.732398 0.513156258056821 0 0.999981099240724 TRUE 6.11451e-05 ENSE00000845547_009 ENSE00000845547 009 20 47868032 47868201 - 32 96 42 G T 47868120 1619 82 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCAACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251582 49251583 49251583 exon 40 0.416666666666667 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCAACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 475 57 0.999479005066714 1 0.999739502533357 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0999364943221893 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0533139916872656 NA FALSE NA 1 6.529 rs192741117 missense_variant MODERATE ZNFX1 HGNC 29271 ENST00000371752 13/14 rs192741117 1 tolerated(0.06) benign(0.053) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TGG G,T 4.118e-05 20:49251583 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 missense_variant 3.109039 0.96547 0.96702 0.732398 0.981965586356579 0 0.999981099240724 TRUE 4.49218e-05 ENSE00000845547_010 ENSE00000845547 010 20 47868032 47868201 - 32 96 42 G C 47868121 1620 81 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCGCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251583 49251584 49251584 exon 39 0.40625 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCGCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 2038 514 0.857879561104251 1 0.928939780552126 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA -0.0416629496402738 0.00669148905234196 0.992961138928987 0.946425510846092 NA -0.0174857302939659 NA FALSE NA 0.06 -0.621 . synonymous_variant LOW ZNFX1 HGNC 29271 ENST00000371752 13/14 1 NA GGG G,C 8.236e-06 20:49251584 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 synonymous_variant 0.510928 0.76106 0.32622 0.732398 0.658195468022573 0 0.999981099240724 TRUE 4.08207e-06 ENSE00000845547_011 ENSE00000845547 011 20 47868032 47868201 - 32 96 42 G A 47868133 1621 69 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGTCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251595 49251596 49251596 exon 27 0.28125 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGTCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 215 363 0.999808431883328 1 0.999904215941664 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.100265921138803 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0534787050955724 NA FALSE NA 0.567 -0.132 . synonymous_variant LOW ZNFX1 HGNC 29271 ENST00000371752 13/14 rs565548235 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGC G,A 8.236e-06 20:49251596 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 synonymous_variant 1.606645 0.92414 0.49527 0.706548 0.632268732982784 0 0.999981099240724 TRUE 4.07704e-06 ENSE00000845547_012 ENSE00000845547 012 20 47868032 47868201 - 32 96 42 C T 47868134 1622 68 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCACCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251596 49251597 49251597 exon 26 0.270833333333333 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCACCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 223 208 0.997387366692509 1 0.998693683346255 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0978448559479843 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0522681725001631 NA FALSE NA 0.921 1.551 . missense_variant MODERATE ZNFX1 HGNC 29271 ENST00000371752 13/14 COSM189895&COSM189894 1 deleterious(0.02) benign(0.037) NA GCG C,T 3.295e-05 20:49251597 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 missense_variant 4.208563 0.9223 0.76031 0.706548 0.996253419865296 0 0.999981099240724 TRUE 1.63189e-05 ENSE00000845547_013 ENSE00000845547 013 20 47868032 47868201 - 32 96 42 G A 47868135 1623 67 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCTGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251597 49251598 49251598 exon 25 0.260416666666667 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCTGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 457 11 1 1 1 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.100457489255475 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0535744891539084 NA FALSE NA 1 5.383 . missense_variant MODERATE ZNFX1 HGNC 29271 ENST00000371752 13/14 rs545882684 1 tolerated(0.1) possibly_damaging(0.906) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 8.236e-06 20:49251598 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 missense_variant 6.42758 0.94137 0.93695 0.706548 0.997305555012222 0 0.999981099240724 TRUE 4.07864e-06 ENSE00000845547_014 ENSE00000845547 014 20 47868032 47868201 - 32 96 42 C A 47868138 1624 64 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTTCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251600 49251601 49251601 exon 22 0.229166666666667 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTTCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 718 1552 0.996611565387508 0.928203898405945 0.962407731896726 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0970690546429828 -0.065104612541713 0.992961138928987 0.946425510846092 NA 0.0159822210506349 NA FALSE NA 1 7.623 . missense_variant MODERATE ZNFX1 HGNC 29271 ENST00000371752 13/14 1 deleterious(0) probably_damaging(1) NA GCA C,A 1.647e-05 20:49251601 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 missense_variant 5.863594 0.97617 0.98085 0.706548 0.997831824473967 0 0.999981099240724 TRUE 1.22339e-05 ENSE00000845547_015 ENSE00000845547 015 20 47868032 47868201 - 32 96 42 T C 47868142 1625 60 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAGATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251604 49251605 49251605 exon 18 0.1875 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAGATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 328 88 1 1 1 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.100457489255475 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0535744891539084 NA FALSE NA 0.994 0.236 . synonymous_variant LOW ZNFX1 HGNC 29271 ENST00000371752 13/14 1 NA TTT T,C 8.236e-06 20:49251605 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 synonymous_variant 0.588951 0.91204 0.78926 0.706548 0.604089175596235 0 0.999981099240724 TRUE 4.07777e-06 ENSE00000845547_016 ENSE00000845547 016 20 47868032 47868201 - 32 96 42 A G 47868152 1626 50 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTACGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251614 49251615 49251615 exon 8 0.0833333333333333 TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTACGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 20 251 1 1 1 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.100457489255475 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.0535744891539084 NA FALSE NA 1 9.098 . missense_variant MODERATE ZNFX1 HGNC 29271 ENST00000371752 13/14 1 deleterious(0) probably_damaging(0.999) NA CAT A,G 1.647e-05 20:49251615 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 missense_variant 5.794181 0.97017 0.98441 0.732398 0.994493862916578 0 0.999981099240724 TRUE 8.21868e-06 ENSE00000845547_017 ENSE00000845547 017 20 47868032 47868201 - 32 96 42 T C 47868173 1627 29 TGCTCTGCCCATGTTTCTAATGACATGCGTGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251635 49251636 49251636 upstr_intron -14 -0.30952380952381 TGCTCTGCCCATGTTTCTAATGACATGCGTGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 96 853 0.95 0.983785916742182 0.966892958371091 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.0504574892554749 -0.00952259420547596 0.992961138928987 0.946425510846092 NA 0.0204674475249995 NA FALSE NA 0 -2.874 . intron_variant MODIFIER ZNFX1 HGNC 29271 ENST00000371752 12/13 1 NA ATG T,C 8.237e-06 20:49251636 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 intron_variant -0.173798 0.15656 0.03373 0.156188 0.312506505767225 0.186028 0.999981099240724 TRUE NA ENSE00000845547_018 ENSE00000845547 018 20 47868032 47868201 - 32 96 42 A G 47868176 1628 26 TGCTCTGCCCATGTTTCTAATGACACGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251638 49251639 49251639 upstr_intron -17 -0.380952380952381 TGCTCTGCCCATGTTTCTAATGACACGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 249 784 1 0.999951443561711 0.999975721780856 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.100457489255475 0.00664293261405324 0.992961138928987 0.946425510846092 NA 0.0535502109347641 NA FALSE NA 0 0.465 . intron_variant MODIFIER ZNFX1 HGNC 29271 ENST00000371752 12/13 1 NA CAT A,G 1.647e-05 20:49251639 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 intron_variant -0.117504 0.24935 0.16194 0.156188 0.461057195185568 0.129518 0.999981099240724 TRUE 1.70525e-05 ENSE00000845547_019 ENSE00000845547 019 20 47868032 47868201 - 32 96 42 C T 47868180 1629 22 TGCTCTGCCCATGTTTCTAATAACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251642 49251643 49251643 upstr_intron -21 -0.476190476190476 TGCTCTGCCCATGTTTCTAATAACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 884 910 1 0.999111087634996 0.999555543817498 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.100457489255475 0.00580257668733786 0.992961138928987 0.946425510846092 NA 0.0531300329714064 NA FALSE NA 0.304 0.684 . intron_variant MODIFIER ZNFX1 HGNC 29271 ENST00000371752 12/13 rs550553822 1 T:0.0000 T:0 T:0 NA T:0 T:0 T:0 TCA C,T 8.237e-06 20:49251643 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 intron_variant 1.002885 0.90507 0.11728 0.156188 0.616017839958083 0.252463 0.999981099240724 TRUE NA ENSE00000845547_020 ENSE00000845547 020 20 47868032 47868201 - 32 96 42 G A 47868185 1630 17 TGCTCTGCCCATGTTTTTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 49251647 49251648 49251648 upstr_intron -26 -0.595238095238095 TGCTCTGCCCATGTTTTTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG mutant NA NA NA NA NA 688 222 0.901490692306397 1 0.950745346153199 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 NA NA 0.00194818156187193 0.00669148905234196 0.992961138928987 0.946425510846092 NA 0.00431983530710695 NA FALSE NA 0.984 1.001 . intron_variant MODIFIER ZNFX1 HGNC 29271 ENST00000371752 12/13 1 NA AGA G,A 8.237e-06 20:49251648 ZNFX1 HGNC Symbol protein_coding 40480 ENSG00000124201 ENSE00000845547 intron_variant 0.595077 0.85467 0.30611 0.156188 0.714143388926906 0.322179 0.999981099240724 TRUE 4.31425e-06 ENSE00000845547_BRK ENSE00000845547 BRK 20 47868032 47868201 - 32 96 42 A,G; T,T NA NA NA TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCTTCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGCCGAGTCTGTCTTACCCGATCTTTCTTGGATG 49251494 49251664 NA NA NA NA NA NA TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCTTCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGCCGAGTCTGTCTTACCCGATCTTTCTTGGATG TGCTCTGCCCATGTTTCTAATGACATGCATGTGTTTTTTCAGCACCGTATGTGCCCTGAAATTGCCCGCCTTTTGACCCCCCACATTTACCAGGATCTGGAGAATCATCCATCTGTTCTTAAGTATGAGAAGATTAAGGTGAGTCTGTCTTACCCGATCTTTCTTGGATG control 47 11 0 0 0 NA NA NA NA NA 0.988571600764452 0.997350677093523 0.899542510744525 0.993308510947658 -0.988571600764452 -0.997350677093523 NA NA 0.992961138928987 0.946425510846092 -0.992961138928987 NA NA NA TRUE NA NA NA NA NA ZNFX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNFX1 NA NA NA ENSG00000124201 ENSE00000845547 NA NA NA NA NA NA NA 0.999981099240724 TRUE NA ENSE00000845744_000 ENSE00000845744 000 20 55931458 55931627 + 44 93 33 NA NA NA NA NA CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 NA NA NA NA NA NA CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT natural 50 26 0.993197438260915 0.999798050938163 0.996497744599539 2912 2475 0.969191743284394 0.988483695520877 0.978837719402636 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 0 0 0 0 0.996497744599539 0.978837719402636 0 0 0 FALSE FALSE NA NA NA NA NA RAE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAE1 NA NA NA ENSG00000101146 ENSE00000845744 NA NA NA NA NA NA NA 0.991169300003019 TRUE NA ENSE00000845744_001 ENSE00000845744 001 20 55931458 55931627 + 44 93 33 T C 55931476 1801 19 CATCGTAATTGCTTTGTTCGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356419 57356420 57356420 upstr_intron -26 -0.568181818181818 CATCGTAATTGCTTTGTTCGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 1267 732 0.999879032531011 0.996166658228955 0.998022845379983 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0306872892466175 0.00768296270807767 0.996497744599539 0.978837719402636 NA 0.0191851259773476 NA FALSE NA 0 -0.764 . intron_variant MODIFIER RAE1 HGNC 9828 ENST00000429339 3/5 1 NA TTG T,C 0.000206 20:57356420 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 intron_variant 0.388813 0.18011 0.02888 0.359288 0.613276402099084 0.102727 0.991169300003019 TRUE 0.000212602 ENSE00000845744_003 ENSE00000845744 003 20 55931458 55931627 + 44 93 33 T C 55931486 1803 29 CATCGTAATTGCTTTGTTTGCATTGAATCTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356429 57356430 57356430 upstr_intron -16 -0.340909090909091 CATCGTAATTGCTTTGTTTGCATTGAATCTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 600 183 0.990241105110604 0.97076897859415 0.980505041852377 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0210493618262104 -0.0177147169267269 0.996497744599539 0.978837719402636 NA 0.00166732244974177 NA FALSE NA 0 0.31 . intron_variant MODIFIER RAE1 HGNC 9828 ENST00000429339 3/5 1 NA TTT T,C 8.237e-06 20:57356430 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 intron_variant 0.16083 0.16285 0.01807 0.359288 0.409921836273667 0.0579845 0.991169300003019 TRUE NA ENSE00000845744_004 ENSE00000845744 004 20 55931458 55931627 + 44 93 33 T G 55931490 1804 33 CATCGTAATTGCTTTGTTTGCATTGAATTTTTGTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356433 57356434 57356434 upstr_intron -12 -0.25 CATCGTAATTGCTTTGTTTGCATTGAATTTTTGTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 944 464 0.990375074031461 1 0.99518753701573 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0211833307470671 0.0115163044791227 0.996497744599539 0.978837719402636 NA 0.0163498176130949 NA FALSE NA 0 -0.453 . intron_variant MODIFIER RAE1 HGNC 9828 ENST00000429339 3/5 1 NA TTT T,G 8.237e-06 20:57356434 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 intron_variant 0.252026 0.27699 0.0476 0.359288 0.641205107759379 0.106499 0.991169300003019 TRUE 4.17613e-06 ENSE00000845744_005 ENSE00000845744 005 20 55931458 55931627 + 44 93 33 C T 55931505 1805 48 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTTGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356448 57356449 57356449 exon 4 0.043010752688172 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTTGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 1743 77 0.999526827645089 1 0.999763413822544 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.030335084360695 0.0115163044791227 0.996497744599539 0.978837719402636 NA 0.0209256944199088 NA FALSE NA 1 5.673 . missense_variant MODERATE RAE1 HGNC 9828 ENST00000429339 4/6 1 deleterious(0) probably_damaging(0.999) NA TCG C,T 8.236e-06 20:57356449 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 missense_variant 7.729178 0.99362 0.96706 0.706548 0.999413146183533 0 0.991169300003019 TRUE 4.09984e-06 ENSE00000845744_006 ENSE00000845744 006 20 55931458 55931627 + 44 93 33 G C 55931517 1806 60 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAACTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356460 57356461 57356461 exon 16 0.172043010752688 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAACTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 1681 3930 0.935533727265603 0.996387276259554 0.965960501762578 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA -0.0336580160187911 0.00790358073867681 0.996497744599539 0.978837719402636 NA -0.0128772176400572 NA FALSE NA 1 9.409 . missense_variant MODERATE RAE1 HGNC 9828 ENST00000429339 4/6 rs567790848 1 deleterious(0.01) benign(0.247) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AGT G,C 8.236e-06 20:57356461 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 missense_variant 4.724458 0.99657 0.9916 0.706548 0.996665521136301 0 0.991169300003019 TRUE NA ENSE00000845744_007 ENSE00000845744 007 20 55931458 55931627 + 44 93 33 T C 55931528 1807 71 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGCGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356471 57356472 57356472 exon 27 0.290322580645161 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGCGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 380 372 1 1 1 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0308082567156063 0.0115163044791227 0.996497744599539 0.978837719402636 NA 0.0211622805973645 NA FALSE NA 0.591 -0.312 . synonymous_variant LOW RAE1 HGNC 9828 ENST00000429339 4/6 1 NA GTG T,C 2.471e-05 20:57356472 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 synonymous_variant 0.459908 0.44716 0.18936 0.706548 0.695676353930074 0 0.991169300003019 TRUE 2.038e-05 ENSE00000845744_008 ENSE00000845744 008 20 55931458 55931627 + 44 93 33 C T 55931561 1808 104 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCATACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356504 57356505 57356505 exon -34 0.645161290322581 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCATACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 671 569 0.985004905346714 0.999933088520154 0.992468996933434 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0158131620623199 0.0114493929992765 0.996497744599539 0.978837719402636 NA 0.0136312775307982 NA FALSE NA 1 2.478 . synonymous_variant LOW RAE1 HGNC 9828 ENST00000429339 4/6 1 NA ACA C,T 8.237e-06 20:57356505 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 synonymous_variant 1.391204 0.98601 0.90474 0.706548 0.843965373491718 0 0.991169300003019 TRUE 8.1414e-06 ENSE00000845744_009 ENSE00000845744 009 20 55931458 55931627 + 44 93 33 G A 55931573 1809 116 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTACTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356516 57356517 57356517 exon -22 0.774193548387097 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTACTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 43 512 1 0.995338074722571 0.997669037361285 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0308082567156063 0.00685437920169329 0.996497744599539 0.978837719402636 NA 0.0188313179586498 NA FALSE NA 0.824 -0.046 . synonymous_variant LOW RAE1 HGNC 9828 ENST00000429339 4/6 rs367609184 1 NA A:0.0002 A:0 TGC G,A 8.237e-06 20:57356517 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 synonymous_variant 0.902014 0.96446 0.73625 0.706548 0.835435757590759 0 0.991169300003019 TRUE 8.14551e-06 ENSE00000845744_010 ENSE00000845744 010 20 55931458 55931627 + 44 93 33 A G 55931578 1810 121 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGGTGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356521 57356522 57356522 exon -17 0.827956989247312 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGGTGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 889 424 0.995963965821124 0.995761369254659 0.995862667537891 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0267722225367304 0.00727767373378152 0.996497744599539 0.978837719402636 NA 0.017024948135256 NA FALSE NA 1 4.932 . missense_variant MODERATE RAE1 HGNC 9828 ENST00000429339 4/6 1 tolerated(0.5) possibly_damaging(0.536) NA GAT A,G 2.471e-05 20:57356522 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 missense_variant 3.605717 0.98823 0.94536 0.706548 0.95680963911019 0 0.991169300003019 TRUE 1.62965e-05 ENSE00000845744_011 ENSE00000845744 011 20 55931458 55931627 + 44 93 33 C T 55931585 1811 128 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGTTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356528 57356529 57356529 exon -10 0.903225806451613 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGTTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 363 433 0.996431616307316 0.995108180734633 0.995769898520974 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0272398730229219 0.00662448521375536 0.996497744599539 0.978837719402636 NA 0.0169321791183386 NA FALSE NA 1 2.766 . synonymous_variant LOW RAE1 HGNC 9828 ENST00000429339 4/6 1 NA GCT C,T 8.237e-06 20:57356529 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 synonymous_variant 1.425727 0.9881 0.9082 0.706548 0.781563198314538 0 0.991169300003019 TRUE NA ENSE00000845744_013 ENSE00000845744 013 20 55931458 55931627 + 44 93 33 G A 55931599 1813 142 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACATTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 57356542 57356543 57356543 downstr_intron 5 1.15625 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACATTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 647 486 0.147405713032554 0.00104091003089071 0.0742233115317223 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA -0.82178603025184 -0.987442785489987 0.996497744599539 0.978837719402636 NA -0.904614407870913 NA TRUE NA 1 7.286 . splice_region_variant&intron_variant LOW RAE1 HGNC 9828 ENST00000429339 4/5 1 NA CGT G,A 8.237e-06 20:57356543 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 splice_region_variant 1.283898 0.99634 0.98268 0.099367 0.640546761486286 0.965823 0.991169300003019 TRUE 4.10462e-06 ENSE00000845744_014 ENSE00000845744 014 20 55931458 55931627 + 44 93 33 C T 55931608 1814 151 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCTATTTCTCGTGTTCCATTTT 57356401 57356571 57356551 57356552 57356552 downstr_intron 14 1.4375 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCTATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 743 958 0.998101437615147 0.998308969233125 0.998205203424136 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0289096943307537 0.00982527371224751 0.996497744599539 0.978837719402636 NA 0.0193674840215006 NA FALSE NA 0 -3.595 . intron_variant MODIFIER RAE1 HGNC 9828 ENST00000429339 4/5 1 NA CCA C,T 8.237e-06 20:57356552 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 intron_variant 0.140737 0.08981 0.00815 0.099367 0.58964159819196 0.0581517 0.991169300003019 TRUE NA ENSE00000845744_015 ENSE00000845744 015 20 55931458 55931627 + 44 93 33 C T 55931615 1815 158 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTTGTGTTCCATTTT 57356401 57356571 57356558 57356559 57356559 downstr_intron 21 1.65625 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTTGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 1047 2009 1 0.944736936821483 0.972368468410741 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0308082567156063 -0.0437467586993944 0.996497744599539 0.978837719402636 NA -0.00646925099189405 NA FALSE NA 0 -0.989 . intron_variant MODIFIER RAE1 HGNC 9828 ENST00000429339 4/5 1 NA TCG C,T 4.119e-05 20:57356559 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 intron_variant -0.009581 0.1381 0.00945 0.099367 0.619959878976742 0.0581517 0.991169300003019 TRUE 2.51128e-05 ENSE00000845744_016 ENSE00000845744 016 20 55931458 55931627 + 44 93 33 G A 55931616 1816 159 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCATGTTCCATTTT 57356401 57356571 57356559 57356560 57356560 downstr_intron 22 1.6875 CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCATGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT mutant NA NA NA NA NA 77 96 1 1 1 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 NA NA 0.0308082567156063 0.0115163044791227 0.996497744599539 0.978837719402636 NA 0.0211622805973645 NA FALSE NA 0 -0.004 . intron_variant MODIFIER RAE1 HGNC 9828 ENST00000429339 4/5 1 NA CGT G,A 8.238e-06 20:57356560 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000845744 intron_variant -0.094211 0.12571 0.00238 0.099367 0.582162727441814 0.0581517 0.991169300003019 TRUE NA ENSE00000845744_BRK ENSE00000845744 BRK 20 55931458 55931627 + 44 93 33 A,G; T,T NA NA NA CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACTTGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACCCACGTTCCCTTCCATTTCTCGTGTTCCATTTT 57356401 57356571 NA NA NA NA NA NA CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACTTGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACCCACGTTCCCTTCCATTTCTCGTGTTCCATTTT CATCGTAATTGCTTTGTTTGCATTGAATTTTTTTGTTACTACAGGTTCGCTGCTGGGAAGTTCAAGACAGTGGACAGACCATTCCAAAAGCCCAGCAGATGCACACTGGGCCTGTGCTTGATGTCTGCTGGAGTGACGTACGTTCCCTTCCATTTCTCGTGTTCCATTTT control 638 100 0.00206425180114024 0 0.00103212590057012 240 439 0.0964596122853264 0.0494842867188525 0.0729719495020894 0.993197438260915 0.999798050938163 0.969191743284394 0.988483695520877 -0.991133186459775 -0.999798050938163 -0.872732130999067 -0.938999408802025 0.996497744599539 0.978837719402636 -0.995465618698969 -0.905865769900546 0.0895998487984226 TRUE TRUE NA NA NA NA NA RAE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAE1 NA NA NA ENSG00000101146 ENSE00000845744 NA NA NA NA NA NA NA 0.991169300003019 TRUE NA ENSE00000845770_000 ENSE00000845770 000 20 56228036 56228205 - 53 54 63 NA NA NA NA NA TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 NA NA NA NA NA NA TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT natural 52 79 0.991373157381895 0.967663782960684 0.979518470171289 2178 1710 0.936032384624598 0.943358946168681 0.939695665396639 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 0 0 0 0 0.979518470171289 0.939695665396639 0 0 0 FALSE FALSE NA NA NA NA NA PMEPA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PMEPA1 NA NA NA ENSG00000124225 ENSE00000845770 NA NA NA NA NA NA NA 0.416594874357437 FALSE NA ENSE00000845770_002 ENSE00000845770 002 20 56228036 56228205 - 53 54 63 G T 56228069 1836 137 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTACCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 57653012 57653013 57653013 downstr_intron 20 1.38461538461538 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTACCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT mutant NA NA NA NA NA 318 771 1 1 1 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 NA NA 0.0639676153754021 0.0566410538313192 0.979518470171289 0.939695665396639 NA 0.0603043346033607 NA FALSE NA 0 -0.04 . intron_variant MODIFIER PMEPA1 HGNC 14107 ENST00000265626 3/3 1 NA GGA G,T 8.274e-06 20:57653013 PMEPA1 HGNC Symbol protein_coding 63144 ENSG00000124225 ENSE00000845770 intron_variant 0.009591 0.24085 0.12325 0.080785 0.477122360275706 0.0818524 0.416594874357437 FALSE NA ENSE00000845770_005 ENSE00000845770 005 20 56228036 56228205 - 53 54 63 G C 56228123 1839 83 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTGGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 57653066 57653067 57653067 exon 20 0.37037037037037 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTGGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT mutant NA NA NA NA NA 76 23 1 1 1 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 NA NA 0.0639676153754021 0.0566410538313192 0.979518470171289 0.939695665396639 NA 0.0603043346033607 NA FALSE NA 1 8.246 NA NA NA PMEPA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:57653067 PMEPA1 HGNC Symbol protein_coding 63144 ENSG00000124225 ENSE00000845770 missense_variant 7.23558 0.96876 0.98731 0.706548 0.991493381900922 0 0.416594874357437 FALSE 4.88296e-06 ENSE00000845770_006 ENSE00000845770 006 20 56228036 56228205 - 53 54 63 G A 56228127 1840 79 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGTCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 57653070 57653071 57653071 exon 16 0.296296296296296 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGTCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT mutant NA NA NA NA NA 126 934 0.999672927614823 0.997230982469676 0.998451955042249 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 NA NA 0.063640542990225 0.0538720363009949 0.979518470171289 0.939695665396639 NA 0.05875628964561 NA FALSE NA 1 4.28 rs142098974 missense_variant MODERATE PMEPA1 HGNC 14107 ENST00000265626 3/4 rs142098974 1 tolerated(0.14) possibly_damaging(0.801) NA A:0 A:0.0002 GGC G,A 2.481e-05 20:57653071 PMEPA1 HGNC Symbol protein_coding 63144 ENSG00000124225 ENSE00000845770 missense_variant 4.341249 0.93181 0.89706 0.706548 0.994057561869517 0 0.416594874357437 FALSE NA ENSE00000845770_007 ENSE00000845770 007 20 56228036 56228205 - 53 54 63 T C 56228141 1841 65 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGGAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 57653084 57653085 57653085 exon 2 0.037037037037037 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGGAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT mutant NA NA NA NA NA 45 30 0.9896224059509 1 0.99481120297545 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 NA NA 0.0535900213263018 0.0566410538313192 0.979518470171289 0.939695665396639 NA 0.0551155375788105 NA FALSE NA 1 6.706 . missense_variant&splice_region_variant MODERATE PMEPA1 HGNC 14107 ENST00000265626 3/4 1 deleterious(0) probably_damaging(0.999) NA TTC T,C 5.804e-05 20:57653085 PMEPA1 HGNC Symbol protein_coding 63144 ENSG00000124225 ENSE00000845770 missense_variant 6.126695 0.93394 0.97224 0.706548 0.99898049858997 0 0.416594874357437 FALSE 3.59155e-05 ENSE00000845770_008 ENSE00000845770 008 20 56228036 56228205 - 53 54 63 C A 56228146 1842 60 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTTCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 57653089 57653090 57653090 upstr_intron -4 -0.0476190476190476 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTTCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT mutant NA NA NA NA NA 106 79 0.998551167408718 1 0.999275583704359 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 NA NA 0.0625187827841198 0.0566410538313192 0.979518470171289 0.939695665396639 NA 0.0595799183077195 NA FALSE NA 0 -2.504 . splice_region_variant&intron_variant LOW PMEPA1 HGNC 14107 ENST00000265626 2/3 rs377133600 1 NA A:0 A:0.0001 GCA C,A 3.321e-05 20:57653090 PMEPA1 HGNC Symbol protein_coding 63144 ENSG00000124225 ENSE00000845770 splice_region_variant 0.308821 0.17506 0.11126 0.099367 0.610110230399012 0.167038 0.416594874357437 FALSE 5.75772e-05 ENSE00000845770_010 ENSE00000845770 010 20 56228036 56228205 - 53 54 63 G A 56228151 1844 55 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTTCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 57653094 57653095 57653095 upstr_intron -9 -0.126984126984127 TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTTCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT mutant NA NA NA NA NA 98 101 1 0.876061808450382 0.938030904225191 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 NA NA 0.0639676153754021 -0.0672971377182988 0.979518470171289 0.939695665396639 NA -0.00166476117144837 NA FALSE NA 0 0.164 rs6070204 intron_variant MODIFIER PMEPA1 HGNC 14107 ENST00000265626 2/3 rs6070204 1 A:0.0577 A:0.1566 A:0.0317 NA A:0 A:0.0408 A:0.0194 A:0.1194 A:0.0413 GGA G,A 0.034 20:57653095 PMEPA1 HGNC Symbol protein_coding 63144 ENSG00000124225 ENSE00000845770 intron_variant 0.193272 0.29176 0.15606 0.099367 0.255520885461378 0.154707 0.416594874357437 FALSE 0.0383489 ENSE00000845770_014 ENSE00000845770 014 20 56228036 56228205 - 53 54 63 G A 56228191 1848 15 TGAGCCTTTGCTGTTCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 57653134 57653135 57653135 upstr_intron -49 -0.761904761904762 TGAGCCTTTGCTGTTCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT mutant NA NA NA NA NA 231 65 1 0.997559041080199 0.998779520540099 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 NA NA 0.0639676153754021 0.0542000949115178 0.979518470171289 0.939695665396639 NA 0.0590838551434599 NA FALSE NA 0 -0.959 . intron_variant MODIFIER PMEPA1 HGNC 14107 ENST00000265626 2/3 1 NA GGA G,A 8.554e-06 20:57653135 PMEPA1 HGNC Symbol protein_coding 63144 ENSG00000124225 ENSE00000845770 intron_variant -0.056835 0.1739 0.03904 0.099367 0.578761150591039 0.0775491 0.416594874357437 FALSE NA ENSE00000845770_BRK ENSE00000845770 BRK 20 56228036 56228205 - 53 54 63 A,G; T,T NA NA NA TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCTTGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGCCGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT 57652979 57653149 NA NA NA NA NA NA TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCTTGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGCCGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT TGAGCCTTTGCTGTCCCTCCTGCCCACCCCACTGACCCTGCTTGTACGTTTCTTCCTGTGCAGGAAGGATGCCTGTGGCCCTCGGAGAGCACAGTGTCAGGCAACGGAATCCCAGAGGTGAGACCTCCCTCGGCCTCCCCTCCAACACCCCCATCCCACCCTGGGCTGCT control NA NA NA NA NA 140 550 0 0 0 0.991373157381895 0.967663782960684 0.936032384624598 0.943358946168681 NA NA -0.936032384624598 -0.943358946168681 0.979518470171289 0.939695665396639 NA -0.939695665396639 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PMEPA1 NA NA NA ENSG00000124225 ENSE00000845770 NA NA NA NA NA NA NA 0.416594874357437 FALSE NA ENSE00000845957_000 ENSE00000845957 000 20 58581715 58581884 + 53 75 42 NA NA NA NA NA GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 NA NA NA NA NA NA GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT natural 132 118 0.993287938194667 0.998054217262867 0.995671077728767 2528 1481 0.897489178683231 0.964004982284147 0.930747080483689 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 0 0 0 0 0.995671077728767 0.930747080483689 0 0 0 FALSE FALSE NA NA NA NA NA CDH26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDH26 NA NA NA ENSG00000124215 ENSE00003649916 NA NA NA NA NA NA NA 5.55635014833331e-23 FALSE NA ENSE00000845957_001 ENSE00000845957 001 20 58581715 58581884 + 53 75 42 G A 58581728 1866 14 GGGGTAGGACAAGAGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006672 60006673 60006673 upstr_intron -40 -0.735849056603774 GGGGTAGGACAAGAGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 2055 907 0.992602711462595 0.999410402665693 0.996006557064144 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0951135327793643 0.0354054203815464 0.995671077728767 0.930747080483689 NA 0.0652594765804553 NA FALSE NA 0 -0.092 . intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 3/4 1 NA GGG G,A 8.236e-06 20:60006673 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant 0.172531 0.09475 0.01619 0.074636 0.682742309552495 0.0468375 5.55635014833331e-23 FALSE 4.07495e-06 ENSE00000845957_002 ENSE00000845957 002 20 58581715 58581884 + 53 75 42 C T 58581730 1867 16 GGGGTAGGACAAGGGTTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006674 60006675 60006675 upstr_intron -38 -0.69811320754717 GGGGTAGGACAAGGGTTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 205 1213 0.878398730105592 0.998955514402207 0.938677122253899 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA -0.0190904485776385 0.0349505321180597 0.995671077728767 0.930747080483689 NA 0.00793004177021056 NA FALSE NA 0 -0.796 rs115584185 intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 3/4 rs115584185 1 T:0.0022 T:0.0076 T:0.0014 NA T:0 T:0 T:0 T:0.01 T:0.0001 GCT C,T 0.001046 20:60006675 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant 0.227104 0.11536 0.00552 0.074636 0.719932316323312 0.0799039 5.55635014833331e-23 FALSE 0.000741973 ENSE00000845957_003 ENSE00000845957 003 20 58581715 58581884 + 53 75 42 T C 58581736 1868 22 GGGGTAGGACAAGGGCTCTGCCGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006680 60006681 60006681 upstr_intron -32 -0.584905660377358 GGGGTAGGACAAGGGCTCTGCCGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 1050 363 0.99980386689147 1 0.999901933445735 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.102314688208239 0.0359950177158529 0.995671077728767 0.930747080483689 NA 0.069154852962046 NA FALSE NA 0 -1.639 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:60006681 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant -0.17951 0.10762 0.004 0.074636 0.441058445859491 0.0797197 5.55635014833331e-23 FALSE 2.03394e-05 ENSE00000845957_004 ENSE00000845957 004 20 58581715 58581884 + 53 75 42 T G 58581736 1869 22 GGGGTAGGACAAGGGCTCTGCGGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006680 60006681 60006681 upstr_intron -32 -0.584905660377358 GGGGTAGGACAAGGGCTCTGCGGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 53 1429 1 0.994663792189925 0.997331896094962 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.102510821316769 0.0306588099057779 0.995671077728767 0.930747080483689 NA 0.0665848156112736 NA FALSE NA 0 -1.639 NA NA NA CDH26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDH26 NA NA NA ENSG00000124215 ENSE00003649916 intron_variant -0.013868 0.09357 0.00179 0.074636 0.515757397597011 0.0797197 5.55635014833331e-23 FALSE 4.06788e-06 ENSE00000845957_005 ENSE00000845957 005 20 58581715 58581884 + 53 75 42 C G 58581750 1870 36 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTGTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006694 60006695 60006695 upstr_intron -18 -0.320754716981132 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTGTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 312 181 0.856689303831454 1 0.928344651915727 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA -0.0407998748517771 0.0359950177158529 0.995671077728767 0.930747080483689 NA -0.00240242856796208 NA FALSE NA 0 -0.368 rs6027236 intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 3/4 rs6027236 1 G:0.0683 G:0.2511 G:0.0144 NA G:0 G:0 G:0 G:0.2025 G:0.0008 TCT C,G 0.019 20:60006695 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant -0.035993 0.15563 0.02192 0.074636 0.710390359101946 0.0532004 5.55635014833331e-23 FALSE 0.01492 ENSE00000845957_006 ENSE00000845957 006 20 58581715 58581884 + 53 75 42 A G 58581752 1871 38 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTGCTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006696 60006697 60006697 upstr_intron -16 -0.283018867924528 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTGCTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 308 290 0.955159708384002 0.966293436119548 0.960726572251775 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0576705297007712 0.00228845383540122 0.995671077728767 0.930747080483689 NA 0.0299794917680862 NA FALSE NA 0 -0.59 . intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 3/4 rs541268975 1 NA TAC A,G 3.295e-05 20:60006697 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant 0.149334 0.06957 0.00024 0.074636 0.781132907567143 0.0962742 5.55635014833331e-23 FALSE 2.844e-05 ENSE00000845957_007 ENSE00000845957 007 20 58581715 58581884 + 53 75 42 G T 58581755 1872 41 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTTGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006699 60006700 60006700 upstr_intron -13 -0.226415094339623 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTTGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 1273 610 0.873876002540158 0.994854055981957 0.934365029261058 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA -0.0236131761430725 0.03084907369781 0.995671077728767 0.930747080483689 NA 0.00361794877736876 NA FALSE NA 0 -1.612 . intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 3/4 1 NA TGG G,T 1.647e-05 20:60006700 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant -0.300473 0.05577 0.00237 0.074636 0.692626764185043 0.158018 5.55635014833331e-23 FALSE 2.03127e-05 ENSE00000845957_009 ENSE00000845957 009 20 58581715 58581884 + 53 75 42 G C 58581768 1874 54 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGCCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006712 60006713 60006713 exon 1 0.0133333333333333 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGCCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 1132 631 0.97632779143347 0.794820000675518 0.885573896054494 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.078838612750239 -0.169184981608629 0.995671077728767 0.930747080483689 NA -0.0451731844291951 NA FALSE NA 0.022 0.023 rs146293150 missense_variant&splice_region_variant MODERATE CDH26 HGNC 15902 ENST00000456106 4/5 rs146293150 1 deleterious_low_confidence(0.03) probably_damaging(0.991) NA C:0 C:0.0001 GGC G,C 3.295e-05 20:60006713 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 missense_variant 0.56878 0.12313 0.02703 0.638212 0.973171269115118 0 5.55635014833331e-23 FALSE 2.84292e-05 ENSE00000845957_010 ENSE00000845957 010 20 58581715 58581884 + 53 75 42 T C 58581770 1875 56 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCCTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006714 60006715 60006715 exon 3 0.04 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCCTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 364 215 0.993506487255045 0.994083268203083 0.993794877729064 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0960173085718145 0.0300782859189358 0.995671077728767 0.930747080483689 NA 0.0630477972453751 NA FALSE NA 0 -2.018 . splice_region_variant&synonymous_variant LOW CDH26 HGNC 15902 ENST00000456106 4/5 1 NA CTT T,C 8.236e-06 20:60006715 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 splice_region_variant -0.879753 0.0677 0.00282 0.638212 0.21641751941537 0 5.55635014833331e-23 FALSE 4.06124e-06 ENSE00000845957_011 ENSE00000845957 011 20 58581715 58581884 + 53 75 42 C T 58581773 1876 59 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTATCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006717 60006718 60006718 exon 6 0.08 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTATCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 617 1889 0.977075461633643 0.996652601264792 0.986864031449217 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0795862829504121 0.0326476189806445 0.995671077728767 0.930747080483689 NA 0.0561169509655283 NA FALSE NA 0 -0.51 . synonymous_variant LOW CDH26 HGNC 15902 ENST00000456106 4/5 1 NA ACC C,T 1.647e-05 20:60006718 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 synonymous_variant 0.051312 0.12179 0.00568 0.638212 0.347019863755349 0 5.55635014833331e-23 FALSE 8.12249e-06 ENSE00000845957_013 ENSE00000845957 013 20 58581715 58581884 + 53 75 42 C G 58581800 1878 86 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTGCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006744 60006745 60006745 exon 33 0.44 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTGCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 509 557 0.992077928784391 0.99502424617867 0.993551087481531 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0945887501011602 0.0310192638945231 0.995671077728767 0.930747080483689 NA 0.0628040069978417 NA FALSE NA 0 0.003 rs7267644 synonymous_variant LOW CDH26 HGNC 15902 ENST00000456106 4/5 rs7267644&COSM3758667&COSM3758668 1 G:0.0717 G:0.1634 G:0.0216 NA G:0.0605 G:0.0149 G:0.0532 G:0.1489 G:0.0113 TCC C,G 0.033 20:60006745 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 synonymous_variant 0.045315 0.12399 0.02564 0.638212 0.510374204293317 0 5.55635014833331e-23 FALSE 0.029552 ENSE00000845957_014 ENSE00000845957 014 20 58581715 58581884 + 53 75 42 C T 58581801 1879 87 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCTTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006745 60006746 60006746 exon 34 0.453333333333333 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCTTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 646 881 0.960236832280036 0.999956791180195 0.980096811730115 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.062747653596805 0.0359518088960474 0.995671077728767 0.930747080483689 NA 0.0493497312464262 NA FALSE NA 0 -0.265 . synonymous_variant LOW CDH26 HGNC 15902 ENST00000456106 4/5 1 NA CCT C,T 8.236e-06 20:60006746 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 synonymous_variant 0.664183 0.13546 0.01296 0.638212 0.64938725817224 0 5.55635014833331e-23 FALSE 4.06072e-06 ENSE00000845957_015 ENSE00000845957 015 20 58581715 58581884 + 53 75 42 C T 58581808 1880 94 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCTGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006752 60006753 60006753 exon -35 0.546666666666667 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCTGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 301 272 0.950604172731345 0.966160798386374 0.958382485558859 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.053114994048114 0.00215581610222704 0.995671077728767 0.930747080483689 NA 0.0276354050751705 NA FALSE NA 0 -0.559 . missense_variant MODERATE CDH26 HGNC 15902 ENST00000456106 4/5 rs200963310&COSM1200485&COSM1200486 1 tolerated_low_confidence(1) benign(0.006) NA CCG C,T 4.942e-05 20:60006753 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 missense_variant -0.446442 0.06472 0.00049 0.553676 0.729595124365773 0 5.55635014833331e-23 FALSE 3.24878e-05 ENSE00000845957_016 ENSE00000845957 016 20 58581715 58581884 + 53 75 42 G A 58581809 1881 95 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCAGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006753 60006754 60006754 exon -34 0.56 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCAGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 743 115 0.970611779368317 1 0.985305889684159 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0731226006850867 0.0359950177158529 0.995671077728767 0.930747080483689 NA 0.0545588092004698 NA FALSE NA 0 -0.165 rs142826389 synonymous_variant LOW CDH26 HGNC 15902 ENST00000456106 4/5 rs142826389 1 NA A:0 A:0.0001 CGG G,A 8.236e-06 20:60006754 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 synonymous_variant 0.452433 0.14191 0.01725 0.553676 0.429695941484615 0 5.55635014833331e-23 FALSE 4.06098e-06 ENSE00000845957_017 ENSE00000845957 017 20 58581715 58581884 + 53 75 42 G A 58581810 1882 96 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGATGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006754 60006755 60006755 exon -33 0.573333333333333 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGATGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 565 147 0.997415614654574 1 0.998707807327287 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0999264359713433 0.0359950177158529 0.995671077728767 0.930747080483689 NA 0.0679607268435981 NA FALSE NA 0 0.42 . missense_variant MODERATE CDH26 HGNC 15902 ENST00000456106 4/5 rs201575756 1 tolerated_low_confidence(0.19) probably_damaging(0.986) NA GGT G,A 0.0001812 20:60006755 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 missense_variant -0.245775 0.08805 0.00083 0.553676 0.912205699708742 0 5.55635014833331e-23 FALSE 0.00011371 ENSE00000845957_018 ENSE00000845957 018 20 58581715 58581884 + 53 75 42 G A 58581821 1883 107 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGAATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006765 60006766 60006766 exon -22 0.72 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGAATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 541 322 0.999236815452163 1 0.999618407726081 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.101747636768932 0.0359950177158529 0.995671077728767 0.930747080483689 NA 0.0688713272423925 NA FALSE NA 0 0.025 . synonymous_variant LOW CDH26 HGNC 15902 ENST00000456106 4/5 rs567265141 1 NA GGA G,A 8.236e-06 20:60006766 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 synonymous_variant 0.173089 0.13562 0.01484 0.553676 0.438275271019596 0 5.55635014833331e-23 FALSE 2.43665e-05 ENSE00000845957_019 ENSE00000845957 019 20 58581715 58581884 + 53 75 42 T A 58581834 1884 120 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACAATGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006778 60006779 60006779 exon -9 0.893333333333333 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACAATGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 1268 375 0.998029145330002 1 0.999014572665001 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.100539966646771 0.0359950177158529 0.995671077728767 0.930747080483689 NA 0.0682674921813121 NA FALSE NA 0.006 -0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:60006779 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 missense_variant 1.558277 0.11766 0.0095 0.553676 0.927540240878767 0 5.55635014833331e-23 FALSE 4.06144e-06 ENSE00000845957_020 ENSE00000845957 020 20 58581715 58581884 + 53 75 42 T C 58581834 1885 120 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACACTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006778 60006779 60006779 exon -9 0.893333333333333 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACACTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 146 398 1 0.997464185040565 0.998732092520282 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.102510821316769 0.0334592027564179 0.995671077728767 0.930747080483689 NA 0.0679850120365936 NA FALSE NA 0.006 -0.037 NA NA NA CDH26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDH26 NA NA NA ENSG00000124215 ENSE00003649916 synonymous_variant -0.899412 0.0914 0.00142 0.553676 0.480545251900409 0 5.55635014833331e-23 FALSE 5.27987e-05 ENSE00000845957_021 ENSE00000845957 021 20 58581715 58581884 + 53 75 42 G C 58581842 1886 128 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCACGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006786 60006787 60006787 exon -1 1 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCACGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 518 235 0.0161526775936731 0.00136390412188806 0.00875829085778059 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA -0.881336501089558 -0.962641078162259 0.995671077728767 0.930747080483689 NA -0.921988789625908 NA TRUE NA 0.123 2.42 . missense_variant&splice_region_variant MODERATE CDH26 HGNC 15902 ENST00000456106 4/5 rs557927275 1 deleterious_low_confidence(0) probably_damaging(0.977) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 AGG G,C 8.236e-06 20:60006787 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 missense_variant 3.65233 0.60885 0.15876 0.553676 0.560034237121468 0 5.55635014833331e-23 FALSE 8.12321e-06 ENSE00000845957_023 ENSE00000845957 023 20 58581715 58581884 + 53 75 42 T C 58581859 1888 145 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCCTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006803 60006804 60006804 downstr_intron 17 1.41463414634146 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCCTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 842 991 0.997630067036413 0.849342571314258 0.923486319175336 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.100140888353183 -0.114662410969889 0.995671077728767 0.930747080483689 NA -0.00726076130835296 NA FALSE NA 0 -0.041 . intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 4/4 1 NA CTT T,C 8.236e-06 20:60006804 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant -0.242007 0.09515 0.01136 0.074636 0.413572907523608 0.0857167 5.55635014833331e-23 FALSE NA ENSE00000845957_024 ENSE00000845957 024 20 58581715 58581884 + 53 75 42 G C 58581863 1889 149 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTCCTGTGCACTAGCTATGGGTTT 60006659 60006829 60006807 60006808 60006808 downstr_intron 21 1.51219512195122 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTCCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 201 87 1 0.983277521547613 0.991638760773807 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.102510821316769 0.0192725392634661 0.995671077728767 0.930747080483689 NA 0.0608916802901177 NA FALSE NA 0 -0.123 rs195004 intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 4/4 rs195004 1 C:0.2196 C:0.6346 C:0.0591 NA C:0.0605 C:0.0517 C:0.1094 C:0.5597 C:0.0617 TGC C,C 0.105 20:60006808 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant -0.267293 0.03569 2e-04 0.074636 0.595149445378833 0.0504749 5.55635014833331e-23 FALSE 0.0940738 ENSE00000845957_025 ENSE00000845957 025 20 58581715 58581884 + 53 75 42 G C 58581866 1890 152 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTCTGCACTAGCTATGGGTTT 60006659 60006829 60006810 60006811 60006811 downstr_intron 24 1.58536585365854 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTCTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 127 377 0.996380069558166 0.991716850994866 0.994048460276516 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0988908908749351 0.0277118687107188 0.995671077728767 0.930747080483689 NA 0.063301379792827 NA FALSE NA 0.003 0.478 . intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 4/4 rs562254282 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGT G,C 6.589e-05 20:60006811 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant -0.236418 0.12849 0.0505 0.074636 0.686431916052533 0.0504749 5.55635014833331e-23 FALSE 6.10729e-05 ENSE00000845957_026 ENSE00000845957 026 20 58581715 58581884 + 53 75 42 G A 58581868 1891 154 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTACACTAGCTATGGGTTT 60006659 60006829 60006812 60006813 60006813 downstr_intron 26 1.63414634146341 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTACACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 527 1030 0.983257867474414 0.99940662700856 0.991332247241487 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.0857686887911837 0.0354016447244125 0.995671077728767 0.930747080483689 NA 0.0605851667577981 NA FALSE NA 0.002 0.426 . intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 4/4 1 NA TGC G,A 8.236e-06 20:60006813 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant 0.077106 0.09739 0.00875 0.074636 0.66143039273597 0.0875544 5.55635014833331e-23 FALSE NA ENSE00000845957_027 ENSE00000845957 027 20 58581715 58581884 + 53 75 42 A G 58581873 1892 159 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTGGCTATGGGTTT 60006659 60006829 60006817 60006818 60006818 downstr_intron 31 1.75609756097561 GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTGGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT mutant NA NA NA NA NA 287 584 1 0.984795081581444 0.992397540790722 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 NA NA 0.102510821316769 0.0207900992972971 0.995671077728767 0.930747080483689 NA 0.0616504603070333 NA FALSE NA 0 -1.262 rs195005 intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 4/4 rs195005 1 G:0.2196 G:0.6346 G:0.0591 NA G:0.0605 G:0.0517 G:0.1094 G:0.5592 G:0.0617 TAG G,G 0.105 20:60006818 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003649916 intron_variant -0.14645 0.03874 0.00041 0.074636 0.411446896186539 0.0504749 5.55635014833331e-23 FALSE 0.0939542 ENSE00000845957_BRK ENSE00000845957 BRK 20 58581715 58581884 + 53 75 42 A,G; T,T NA NA NA GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCTTGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGCCAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT 60006659 60006829 NA NA NA NA NA NA GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCTTGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGCCAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT GGGGTAGGACAAGGGCTCTGCTGTGGTATGAAGCTCTACTGGTTTGCTTGCAGGCTTACCCAGATGCCACAATGCACAGACAACTCCTGGCTCCGGTGGAAGGAAGGATGGCAGAGACATTGAATCAGGTAGGGAGAGCTCCCCTTGTGCTGTGCACTAGCTATGGGTTT control 1131 738 0 0 0 102 567 0 0 0 0.993287938194667 0.998054217262867 0.897489178683231 0.964004982284147 -0.993287938194667 -0.998054217262867 -0.897489178683231 -0.964004982284147 0.995671077728767 0.930747080483689 -0.995671077728767 -0.930747080483689 0.0649239972450782 TRUE TRUE NA NA NA NA NA CDH26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDH26 NA NA NA ENSG00000124215 ENSE00003649916 NA NA NA NA NA NA NA 5.55635014833331e-23 FALSE NA ENSE00000846524_000 ENSE00000846524 000 2 70915126 70915295 - 30 99 41 NA NA NA NA NA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 NA NA NA NA NA NA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA natural NA NA NA NA NA 1707 1770 0.98863096455125 0.97311198607938 0.980871475315315 NA NA 0.98863096455125 0.97311198607938 NA NA 0 0 NA 0.980871475315315 NA 0 NA FALSE NA NA NA NA NA NA ADD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADD2 NA NA NA ENSG00000075340 ENSE00000846524 NA NA NA NA NA NA NA 0.999175206924775 TRUE NA ENSE00000846524_BRK ENSE00000846524 BRK 2 70915126 70915295 - 30 99 41 A,G; T,T NA NA NA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACTTATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGCCGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 NA NA NA NA NA NA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACTTATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGCCGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA control NA NA NA NA NA 119 624 0 0.144631597828519 0.0723157989142596 NA NA 0.98863096455125 0.97311198607938 NA NA -0.98863096455125 -0.828480388250861 NA 0.980871475315315 NA -0.908555676401055 NA TRUE NA NA NA NA NA NA ADD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADD2 NA NA NA ENSG00000075340 ENSE00000846524 NA NA NA NA NA NA NA 0.999175206924775 TRUE NA ENSE00000846889_000 ENSE00000846889 000 4 41678348 41678517 + 48 84 38 NA NA NA NA NA TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 NA NA NA NA NA NA TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT natural 22 60 0.998731025232295 0.976824981129633 0.987778003180964 2212 1556 0.92652590163661 0.992048485896315 0.959287193766463 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 0 0 0 0 0.987778003180964 0.959287193766463 0 0 0 FALSE FALSE NA NA NA NA NA LIMCH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIMCH1 NA NA NA ENSG00000064042 ENSE00000846889 NA NA NA NA NA NA NA 0.999638378558411 TRUE NA ENSE00000846889_001 ENSE00000846889 001 4 41678348 41678517 + 48 84 38 T A 41678365 662 18 TCCCTTGAGGACATGGCACAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676347 41676348 41676348 upstr_intron -31 -0.625 TCCCTTGAGGACATGGCACAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 190 549 1 1 1 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0734740983633901 0.00795151410368466 0.987778003180964 0.959287193766463 NA 0.0407128062335374 NA FALSE NA 0.001 0.385 rs148784892 intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 rs148784892 1 A:0.0032 A:0.0121 A:0 NA A:0 A:0 A:0 A:0.0102 A:0 CTC T,A 0.0008485 4:41676348 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 intron_variant 0.554633 0.26921 0.2429 0.053691 0.729451055326332 0.0804526 0.999638378558411 TRUE 0.000601418 ENSE00000846889_003 ENSE00000846889 003 4 41678348 41678517 + 48 84 38 G A 41678395 664 48 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAACAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676377 41676378 41676378 upstr_intron -1 0 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAACAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 644 151 0.99903749493446 1 0.99951874746723 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0725115932978497 0.00795151410368466 0.987778003180964 0.959287193766463 NA 0.0402315537007672 NA FALSE NA 1 1.435 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA AGC G,A 2.471e-05 4:41676378 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 splice_acceptor_variant 3.684906 0.9604 0.73488 0.053691 0.94835524661765 0.38877 0.999638378558411 TRUE 2.03771e-05 ENSE00000846889_004 ENSE00000846889 004 4 41678348 41678517 + 48 84 38 C G 41678407 665 60 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTGTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676389 41676390 41676390 exon 12 0.142857142857143 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTGTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 161 781 1 0.998673386170075 0.999336693085037 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0734740983633901 0.0066249002737595 0.987778003180964 0.959287193766463 NA 0.0400494993185748 NA FALSE NA 0.999 0.804 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA TCT C,G 8.237e-06 4:41676390 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 2.394763 0.96774 0.82732 0.615465 0.995592421610367 0 0.999638378558411 TRUE 4.06719e-06 ENSE00000846889_006 ENSE00000846889 006 4 41678348 41678517 + 48 84 38 T C 41678414 667 67 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCACGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676396 41676397 41676397 exon 19 0.226190476190476 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCACGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 76 234 1 1 1 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0734740983633901 0.00795151410368466 0.987778003180964 0.959287193766463 NA 0.0407128062335374 NA FALSE NA 1 6.913 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA ATG T,C 1.647e-05 4:41676397 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 6.544442 0.98932 0.96723 0.625279 0.994912831012482 0 0.999638378558411 TRUE 1.21961e-05 ENSE00000846889_007 ENSE00000846889 007 4 41678348 41678517 + 48 84 38 C T 41678419 668 72 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGATCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676401 41676402 41676402 exon 24 0.285714285714286 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGATCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 281 210 1 1 1 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0734740983633901 0.00795151410368466 0.987778003180964 0.959287193766463 NA 0.0407128062335374 NA FALSE NA 1 2.295 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA ACC C,T 1.647e-05 4:41676402 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 synonymous_variant 1.810659 0.97505 0.743 0.615465 0.600331478551417 0 0.999638378558411 TRUE 8.12968e-06 ENSE00000846889_008 ENSE00000846889 008 4 41678348 41678517 + 48 84 38 G A 41678423 669 76 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAAAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676405 41676406 41676406 exon 28 0.333333333333333 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAAAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 12 265 1 0.968733675519512 0.984366837759756 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0734740983633901 -0.0233148103768035 0.987778003180964 0.959287193766463 NA 0.0250796439932933 NA FALSE NA 1 5.442 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA AGA G,A 8.237e-06 4:41676406 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 6.248494 0.98613 0.9409 0.615465 0.999371071201255 0 0.999638378558411 TRUE 4.06448e-06 ENSE00000846889_009 ENSE00000846889 009 4 41678348 41678517 + 48 84 38 A G 41678424 670 77 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGGAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676406 41676407 41676407 exon 29 0.345238095238095 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGGAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 164 277 0.959416963555738 0.957631945661158 0.958524454608448 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0328910619191278 -0.0344165402351569 0.987778003180964 0.959287193766463 NA -0.000762739158014558 NA FALSE NA 1 8.026 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA GAA A,G 8.237e-06 4:41676407 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 6.796912 0.98983 0.98029 0.615465 0.999386338610479 0 0.999638378558411 TRUE 4.06415e-06 ENSE00000846889_010 ENSE00000846889 010 4 41678348 41678517 + 48 84 38 C T 41678432 671 85 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGTGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676414 41676415 41676415 exon 37 0.44047619047619 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGTGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 285 341 0.959039142962827 0.98378740543523 0.971413274199028 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0325132413262174 -0.00826108046108576 0.987778003180964 0.959287193766463 NA 0.0121260804325658 NA FALSE NA 1 6.724 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA GCG C,T 1.647e-05 4:41676415 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 8.214295 0.99186 0.96986 0.615465 0.999264882601286 0 0.999638378558411 TRUE 2.03199e-05 ENSE00000846889_013 ENSE00000846889 013 4 41678348 41678517 + 48 84 38 A T 41678440 674 93 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGTCAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676422 41676423 41676423 exon -40 0.535714285714286 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGTCAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 1233 635 0.855558225725017 1 0.927779112862509 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA -0.0709676759115928 0.00795151410368466 0.987778003180964 0.959287193766463 NA -0.0315080809039541 NA FALSE NA 0.973 0.229 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA GAC A,T 7.413e-05 4:41676423 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 synonymous_variant 0.261014 0.9699 0.64727 0.615465 0.59569098767262 0 0.999638378558411 TRUE 8.53305e-05 ENSE00000846889_014 ENSE00000846889 014 4 41678348 41678517 + 48 84 38 A G 41678446 675 99 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAGAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676428 41676429 41676429 exon -34 0.607142857142857 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAGAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 406 1046 0.99332666052372 0.999525612293855 0.996426136408787 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0668007588871098 0.00747712639753983 0.987778003180964 0.959287193766463 NA 0.0371389426423248 NA FALSE NA 0.054 -0.278 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA AAA A,G 8.237e-06 4:41676429 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 synonymous_variant 0.151522 0.93129 0.1152 0.615465 0.481266467934889 0 0.999638378558411 TRUE 4.06345e-06 ENSE00000846889_015 ENSE00000846889 015 4 41678348 41678517 + 48 84 38 A G 41678447 676 100 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAGAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676429 41676430 41676430 exon -33 0.619047619047619 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAGAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 881 1027 0.996212086880246 0.99966579521296 0.997938941046603 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0696861852436359 0.00761730931664506 0.987778003180964 0.959287193766463 NA 0.0386517472801405 NA FALSE NA 0.999 4.895 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA AAA A,G 8.237e-06 4:41676430 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 3.966452 0.96859 0.91829 0.615465 0.998678084580731 0 0.999638378558411 TRUE NA ENSE00000846889_016 ENSE00000846889 016 4 41678348 41678517 + 48 84 38 G A 41678459 677 112 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGAAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676441 41676442 41676442 exon -21 0.761904761904762 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGAAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 69 1365 1 0.989224397504597 0.994612198752298 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0734740983633901 -0.00282408839171877 0.987778003180964 0.959287193766463 NA 0.0353250049858357 NA FALSE NA 1 8.479 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 COSM1163365&COSM1163366 1 NA GGA G,A 8.237e-06 4:41676442 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 7.082698 0.99208 0.98176 0.615465 0.999338316687894 0 0.999638378558411 TRUE 4.06355e-06 ENSE00000846889_018 ENSE00000846889 018 4 41678348 41678517 + 48 84 38 C T 41678468 679 121 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAATGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676450 41676451 41676451 exon -12 0.869047619047619 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAATGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 300 476 0.943248582131875 0.918485746116718 0.930867164124296 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.016722680495265 -0.0735627397795973 0.987778003180964 0.959287193766463 NA -0.0284200296421661 NA FALSE NA 1 4.903 NA NA NA LIMCH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:41676451 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 7.751236 0.98435 0.94398 0.615465 0.999150671898098 0 0.999638378558411 TRUE 4.06332e-06 ENSE00000846889_019 ENSE00000846889 019 4 41678348 41678517 + 48 84 38 G A 41678469 680 122 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACATTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676451 41676452 41676452 exon -11 0.880952380952381 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACATTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 533 331 0.99373609229865 0.966726748573273 0.980231420435961 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0672101906620397 -0.0253217373230422 0.987778003180964 0.959287193766463 NA 0.0209442266694987 NA FALSE NA 1 8.479 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 rs571021758 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 CGT G,A 1.647e-05 4:41676452 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 missense_variant 6.271076 0.99118 0.98127 0.615465 0.999435011378995 0 0.999638378558411 TRUE 1.21913e-05 ENSE00000846889_021 ENSE00000846889 021 4 41678348 41678517 + 48 84 38 A C 41678485 682 138 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGCTGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676467 41676468 41676468 downstr_intron 6 1.16216216216216 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGCTGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 267 2551 0.803013323484163 0.823803911488625 0.813408617486394 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA -0.123512578152446 -0.16824457440769 0.987778003180964 0.959287193766463 NA -0.145878576280068 NA FALSE NA 0.289 0.676 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA GAT A,C 8.237e-06 4:41676468 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 splice_region_variant 0.445001 0.97081 0.65246 0.06567 0.659701258113727 0.256932 0.999638378558411 TRUE 4.06712e-06 ENSE00000846889_022 ENSE00000846889 022 4 41678348 41678517 + 48 84 38 G A 41678494 683 147 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTACTGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676476 41676477 41676477 downstr_intron 15 1.40540540540541 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTACTGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 333 230 1 1 1 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0734740983633901 0.00795151410368466 0.987778003180964 0.959287193766463 NA 0.0407128062335374 NA FALSE NA 0.011 0.753 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 rs528238430 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 3.295e-05 4:41676477 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 intron_variant 0.183726 0.24163 0.08567 0.06567 0.729833378278109 0.116254 0.999638378558411 TRUE 3.67167e-05 ENSE00000846889_023 ENSE00000846889 023 4 41678348 41678517 + 48 84 38 T C 41678496 684 149 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCCGCTTTTTTTGTTTTTCCTTTT 41676330 41676500 41676478 41676479 41676479 downstr_intron 17 1.45945945945946 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCCGCTTTTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 265 288 0.999844600960344 0.998801785531118 0.999323193245731 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0733186993237341 0.00675329963480309 0.987778003180964 0.959287193766463 NA 0.0400359994792686 NA FALSE NA 0.018 0.703 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 1 NA CTG T,C 8.237e-06 4:41676479 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 intron_variant -0.083623 0.24945 0.30561 0.06567 0.597227062523399 0.115343 0.999638378558411 TRUE 8.168e-06 ENSE00000846889_024 ENSE00000846889 024 4 41678348 41678517 + 48 84 38 T G 41678501 685 154 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTGTTTTGTTTTTCCTTTT 41676330 41676500 41676483 41676484 41676484 downstr_intron 22 1.59459459459459 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTGTTTTGTTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 660 964 0.884325143889384 0.998279304341306 0.941302224115345 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA -0.0422007577472256 0.00623081844499096 0.987778003180964 0.959287193766463 NA -0.0179849696511173 NA FALSE NA 0.041 2.68 rs112715318 intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 rs112715318 1 G:0.0044 G:0.0166 G:0 NA G:0 G:0 G:0 G:0.0068 G:0 TTT T,G 0.0009226 4:41676484 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 intron_variant -0.158037 0.16828 0.26329 0.06567 0.316543491388041 0.0708573 0.999638378558411 TRUE 0.00072127 ENSE00000846889_025 ENSE00000846889 025 4 41678348 41678517 + 48 84 38 G A 41678506 686 159 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTATTTTTCCTTTT 41676330 41676500 41676488 41676489 41676489 downstr_intron 27 1.72972972972973 TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTATTTTTCCTTTT TCCCTTGAGGACATGGCTCAATTCTGATCATGGTTTCATTTTTCTAAGCAGTTTAAGTTCTGGGCATGGGACCCAGAAGAGGAGCGCAGGCGACAGGAAAAATGGCAACAGGAACAGGAACGTTTGCTCCAGGTAGGATGGAGTTTGCTGCTTTTTTTGTTTTTCCTTTT mutant NA NA NA NA NA 442 493 0.996164076356348 1 0.998082038178174 0.998731025232295 0.976824981129633 0.92652590163661 0.992048485896315 NA NA 0.0696381747197385 0.00795151410368466 0.987778003180964 0.959287193766463 NA 0.0387948444117116 NA FALSE NA 0 -4.463 . intron_variant MODIFIER LIMCH1 HGNC 29191 ENST00000512632 15/22 rs573320442 1 A:0.0030 A:0 A:0 NA A:0 A:0 A:0.0153 TGT G,A 0.001145 4:41676489 LIMCH1 HGNC Symbol protein_coding 340437 ENSG00000064042 ENSE00000846889 intron_variant -0.281686 0.17232 0.0176 0.06567 0.496880469523478 0.046323 0.999638378558411 TRUE 0.00109986 ENSE00000850031_000 ENSE00000850031 000 6 42957298 42957467 + 51 78 41 NA NA NA NA NA CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC 42989559 42989729 NA NA NA NA NA NA CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC natural 56 35 0.985037472757072 0.997070973343514 0.991054223050293 865 598 0.997945269143314 0.992295601654166 0.99512043539874 0.985037472757072 0.997070973343514 0.997945269143314 0.992295601654166 0 0 0 0 0.991054223050293 0.99512043539874 0 0 0 FALSE FALSE NA NA NA NA NA PPP2R5D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP2R5D NA NA NA ENSG00000112640 ENSE00000850031 NA NA NA NA NA NA NA 0.997520078948917 TRUE NA ENSE00000850031_001 ENSE00000850031 001 6 42957298 42957467 + 51 78 41 C T 42957310 1273 13 CTCTCCCTTCTCTTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC 42989559 42989729 42989571 42989572 42989572 upstr_intron -39 -0.745098039215686 CTCTCCCTTCTCTTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC mutant NA NA NA NA NA 38 155 1 1 1 0.985037472757072 0.997070973343514 0.997945269143314 0.992295601654166 NA NA 0.00205473085668584 0.00770439834583381 0.991054223050293 0.99512043539874 NA 0.00487956460125982 NA FALSE NA 0 -2.828 . intron_variant MODIFIER PPP2R5D HGNC 9312 ENST00000461010 1/13 1 NA CCT C,T 8.24e-06 6:42989572 PPP2R5D HGNC Symbol protein_coding 27843 ENSG00000112640 ENSE00000850031 intron_variant 0.246497 0.10904 0.01855 0.160075 0.364890866911859 0.122427 0.997520078948917 TRUE NA ENSE00000850031_003 ENSE00000850031 003 6 42957298 42957467 + 51 78 41 C T 42957314 1275 17 CTCTCCCTTCTCCTGGTATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC 42989559 42989729 42989575 42989576 42989576 upstr_intron -35 -0.666666666666667 CTCTCCCTTCTCCTGGTATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC mutant NA NA NA NA NA 115 331 1 1 1 0.985037472757072 0.997070973343514 0.997945269143314 0.992295601654166 NA NA 0.00205473085668584 0.00770439834583381 0.991054223050293 0.99512043539874 NA 0.00487956460125982 NA FALSE NA 0 0.136 . intron_variant MODIFIER PPP2R5D HGNC 9312 ENST00000461010 1/13 rs374918665 1 NA T:0.0007 T:0 GCA C,T 0.0001071 6:42989576 PPP2R5D HGNC Symbol protein_coding 27843 ENSG00000112640 ENSE00000850031 intron_variant 0.213512 0.15915 0.11057 0.160075 0.305145134724232 0.121436 0.997520078948917 TRUE 0.000117569 ENSE00000850031_006 ENSE00000850031 006 6 42957298 42957467 + 51 78 41 C T 42957324 1278 27 CTCTCCCTTCTCCTGGCATCTGCTAATTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC 42989559 42989729 42989585 42989586 42989586 upstr_intron -25 -0.470588235294118 CTCTCCCTTCTCCTGGCATCTGCTAATTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC mutant NA NA NA NA NA 57 163 1 1 1 0.985037472757072 0.997070973343514 0.997945269143314 0.992295601654166 NA NA 0.00205473085668584 0.00770439834583381 0.991054223050293 0.99512043539874 NA 0.00487956460125982 NA FALSE NA 0.003 0.165 . intron_variant MODIFIER PPP2R5D HGNC 9312 ENST00000461010 1/13 1 NA ACT C,T 4.119e-05 6:42989586 PPP2R5D HGNC Symbol protein_coding 27843 ENSG00000112640 ENSE00000850031 intron_variant 0.346798 0.43807 0.08175 0.359288 0.464454241794989 0.121436 0.997520078948917 TRUE 3.76229e-05 ENSE00000850031_012 ENSE00000850031 012 6 42957298 42957467 + 51 78 41 G A 42957386 1284 89 CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAACAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC 42989559 42989729 42989647 42989648 42989648 exon 38 0.487179487179487 CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAACAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC mutant NA NA NA NA NA 410 56 1 0.95 0.975 0.985037472757072 0.997070973343514 0.997945269143314 0.992295601654166 NA NA 0.00205473085668584 -0.0422956016541661 0.991054223050293 0.99512043539874 NA -0.0201204353987401 NA FALSE NA 1 2.276 . intron_variant MODIFIER PPP2R5D HGNC 9312 ENST00000461010 1/13 rs373458153 1 NA A:0 A:0.0001 AGC G,A 8.236e-06 6:42989648 PPP2R5D HGNC Symbol protein_coding 27843 ENSG00000112640 ENSE00000850031 missense_variant 1.523904 0.95424 0.77147 0.732398 0.930238250280031 0 0.997520078948917 TRUE 8.13359e-06 ENSE00000850031_021 ENSE00000850031 021 6 42957298 42957467 + 51 78 41 G A 42957442 1293 145 CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCATAGCCTTAGATGTGGTGCAGGTGCC 42989559 42989729 42989703 42989704 42989704 downstr_intron 16 1.4 CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCATAGCCTTAGATGTGGTGCAGGTGCC CTCTCCCTTCTCCTGGCATCTGCTAACTTTACTTTCATCTTTTCCTTTCAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAGGTAATGAATGTAGGCGTAGCCTTAGATGTGGTGCAGGTGCC mutant NA NA NA NA NA 20 311 1 1 1 0.985037472757072 0.997070973343514 0.997945269143314 0.992295601654166 NA NA 0.00205473085668584 0.00770439834583381 0.991054223050293 0.99512043539874 NA 0.00487956460125982 NA FALSE NA 0 -0.933 . intron_variant MODIFIER PPP2R5D HGNC 9312 ENST00000461010 1/13 rs201160891 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0 A:0.0001 CGT G,A 0.0001071 6:42989704 PPP2R5D HGNC Symbol protein_coding 27843 ENSG00000112640 ENSE00000850031 intron_variant 0.32304 0.12868 0.01348 0.106106 0.724784397907513 0.163559 0.997520078948917 TRUE 0.000107015 ENSE00000852784_000 ENSE00000852784 000 16 56544723 56544892 - 48 63 59 NA NA NA NA NA TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 NA NA NA NA NA NA TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT natural 29 24 0.99231303939123 0.989785335407757 0.991049187399493 8296 5721 0.935896629921031 0.959930377534027 0.947913503727529 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 0 0 0 0 0.991049187399493 0.947913503727529 0 0 0 FALSE FALSE NA NA NA NA NA BBS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BBS2 NA NA NA ENSG00000125124 ENSE00003646139 NA NA NA NA NA NA NA 1.8525443177165e-10 FALSE NA ENSE00000852784_001 ENSE00000852784 001 16 56544723 56544892 - 48 63 59 C T 56544741 1738 152 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTATGTTCAGCCAAATGAATT 56510810 56510980 56510828 56510829 56510829 downstr_intron 30 1.63829787234043 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTATGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 285 2079 0.998984806622658 0.999923921357743 0.9994543639902 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0630881767016275 0.0399935438237154 0.991049187399493 0.947913503727529 NA 0.0515408602626715 NA FALSE NA 0 -0.557 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 4/15 1 NA ACA C,T 9.884e-05 16:56510829 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.918928 0.18261 0.0297 0.262962 0.663732972305789 0.051522 1.8525443177165e-10 FALSE 7.72025e-05 ENSE00000852784_003 ENSE00000852784 003 16 56544723 56544892 - 48 63 59 A G 56544744 1740 149 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTCGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510831 56510832 56510832 downstr_intron 27 1.57446808510638 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTCGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 422 331 0.989288900648036 0.998256505479261 0.993772703063648 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0533922707270047 0.0383261279452335 0.991049187399493 0.947913503727529 NA 0.0458591993361191 NA FALSE NA 0.002 1.77 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 4/15 1 NA CAA A,G 8.236e-06 16:56510832 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.766997 0.20518 0.24663 0.262962 0.839576570714368 0.051522 1.8525443177165e-10 FALSE 4.06345e-06 ENSE00000852784_005 ENSE00000852784 005 16 56544723 56544892 - 48 63 59 A G 56544751 1742 142 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATACCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510838 56510839 56510839 downstr_intron 20 1.42553191489362 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATACCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 580 337 0.969516809939475 0.985166418286551 0.977341614113013 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0336201800184441 0.0252360407525239 0.991049187399493 0.947913503727529 NA 0.029428110385484 NA FALSE NA 0.002 0.453 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 4/15 rs369579609 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 GAT G,G 9.06e-05 16:56510839 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.039059 0.06858 0.00038 0.262962 0.648375808497731 0.051522 1.8525443177165e-10 FALSE 8.94178e-05 ENSE00000852784_006 ENSE00000852784 006 16 56544723 56544892 - 48 63 59 T A 56544754 1743 139 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGTTATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510841 56510842 56510842 downstr_intron 17 1.36170212765957 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGTTATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 294 1173 0.964937793001532 0.996921323420172 0.980929558210852 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0290411630805008 0.0369909458861449 0.991049187399493 0.947913503727529 NA 0.0330160544833228 NA FALSE NA 0 -0.297 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 4/15 rs372085811 1 NA A:0.0002 A:0 ATC T,A 8.236e-06 16:56510842 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.54406 0.17848 0.06323 0.262962 0.595836355396763 0.0938431 1.8525443177165e-10 FALSE 1.21922e-05 ENSE00000852784_007 ENSE00000852784 007 16 56544723 56544892 - 48 63 59 C T 56544758 1744 135 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAAGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510845 56510846 56510846 downstr_intron 13 1.27659574468085 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAAGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 378 797 0.996350889211233 1 0.998175444605617 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0604542592902023 0.0400696224659727 0.991049187399493 0.947913503727529 NA 0.0502619408780875 NA FALSE NA 0.001 0.021 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 4/15 1 NA CCT C,T 3.295e-05 16:56510846 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.290321 0.19846 0.06224 0.262962 0.389617778629424 0.130188 1.8525443177165e-10 FALSE 2.0311e-05 ENSE00000852784_008 ENSE00000852784 008 16 56544723 56544892 - 48 63 59 T C 56544759 1745 134 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGGGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510846 56510847 56510847 downstr_intron 12 1.25531914893617 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGGGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 494 70 0.999499086488517 0.997178966308189 0.998339026398353 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0636024565674865 0.0372485887741617 0.991049187399493 0.947913503727529 NA 0.0504255226708241 NA FALSE NA 0.022 2.008 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 4/15 1 NA CTC T,C 8.236e-06 16:56510847 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.296957 0.25972 0.22093 0.262962 0.671674668032498 0.130188 1.8525443177165e-10 FALSE 4.06223e-06 ENSE00000852784_009 ENSE00000852784 009 16 56544723 56544892 - 48 63 59 C A 56544770 1746 123 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGTTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510857 56510858 56510858 downstr_intron 1 1.02127659574468 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGTTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 230 357 0.00549273854663599 0.0371835527602779 0.0213381456534569 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA -0.930403891374395 -0.922746824773749 0.991049187399493 0.947913503727529 NA -0.926575358074072 NA TRUE NA 1 7.333 . splice_donor_variant HIGH BBS2 HGNC 967 ENST00000568104 4/15 CS013079 1 NA HC ACC C,A 0.0001153 16:56510858 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 splice_donor_variant 6.112956 0.9958 0.99426 0.262962 0.995438007374783 0.989408 1.8525443177165e-10 FALSE 9.74738e-05 ENSE00000852784_010 ENSE00000852784 010 16 56544723 56544892 - 48 63 59 T C 56544774 1747 119 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAGGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510861 56510862 56510862 exon -4 0.952380952380952 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAGGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 1021 612 0.996231694863216 0.992171096808803 0.994201395836009 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0603350649421851 0.0322407192747757 0.991049187399493 0.947913503727529 NA 0.0462878921084804 NA FALSE NA 1 1.133 . synonymous_variant LOW BBS2 HGNC 967 ENST00000568104 4/16 rs558360994 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTT T,C 4.118e-05 16:56510862 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 synonymous_variant -0.387259 0.97018 0.88103 0.706548 0.679613668791555 0 1.8525443177165e-10 FALSE 2.43655e-05 ENSE00000852784_011 ENSE00000852784 011 16 56544723 56544892 - 48 63 59 T A 56544775 1748 118 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGATAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510862 56510863 56510863 exon -5 0.936507936507937 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGATAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 95 253 1 0.999698587774495 0.999849293887248 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0641033700789692 0.0397682102404678 0.991049187399493 0.947913503727529 NA 0.0519357901597185 NA FALSE NA 1 3.929 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:56510863 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 missense_variant 4.344819 0.98641 0.97007 0.706548 0.994450911606342 0 1.8525443177165e-10 FALSE 4.06088e-06 ENSE00000852784_012 ENSE00000852784 012 16 56544723 56544892 - 48 63 59 T C 56544775 1749 118 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAGAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510862 56510863 56510863 exon -5 0.936507936507937 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAGAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 475 364 0.978794091548863 0.97620740925754 0.977500750403201 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0428974616278321 0.0162770317235124 0.991049187399493 0.947913503727529 NA 0.0295872466756723 NA FALSE NA 1 3.929 NA NA NA BBS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BBS2 NA NA NA ENSG00000125124 ENSE00003646139 missense_variant 2.086591 0.98616 0.96988 0.706548 0.995621632092924 0 1.8525443177165e-10 FALSE 4.06088e-06 ENSE00000852784_013 ENSE00000852784 013 16 56544723 56544892 - 48 63 59 T C 56544776 1750 117 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGGAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510863 56510864 56510864 exon -6 0.920634920634921 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGGAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 416 999 0.983470809108713 0.989827723651464 0.986649266380088 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0475741791876817 0.0298973461174368 0.991049187399493 0.947913503727529 NA 0.0387357626525592 NA FALSE NA 1 4.713 . missense_variant MODERATE BBS2 HGNC 967 ENST00000568104 4/16 1 tolerated(0.29) benign(0.062) NA TTC T,C 8.236e-06 16:56510864 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 missense_variant 2.014063 0.98631 0.98001 0.706548 0.992975674653009 0 1.8525443177165e-10 FALSE 4.06098e-06 ENSE00000852784_014 ENSE00000852784 014 16 56544723 56544892 - 48 63 59 C T 56544777 1751 116 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAAAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510864 56510865 56510865 exon -7 0.904761904761905 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAAAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 427 1169 1 0.999575659426256 0.999787829713128 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0641033700789692 0.0396452818922287 0.991049187399493 0.947913503727529 NA 0.0518743259855989 NA FALSE NA 1 2.322 . synonymous_variant LOW BBS2 HGNC 967 ENST00000568104 4/16 1 NA TCT C,T 3.295e-05 16:56510865 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 synonymous_variant 1.234288 0.9746 0.86331 0.706548 0.612637322113165 0 1.8525443177165e-10 FALSE 2.03047e-05 ENSE00000852784_015 ENSE00000852784 015 16 56544723 56544892 - 48 63 59 T C 56544780 1752 113 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGGAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510867 56510868 56510868 exon -10 0.857142857142857 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGGAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 229 278 0.994480813907436 1 0.997240406953718 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0585841839864055 0.0400696224659727 0.991049187399493 0.947913503727529 NA 0.0493269032261891 NA FALSE NA 0.964 0.153 rs34191306 synonymous_variant LOW BBS2 HGNC 967 ENST00000568104 4/16 rs34191306 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0018 C:0 TTC T,C 0.0001483 16:56510868 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 synonymous_variant -0.252369 0.94503 0.45479 0.706548 0.725245943865666 0 1.8525443177165e-10 FALSE 8.93387e-05 ENSE00000852784_016 ENSE00000852784 016 16 56544723 56544892 - 48 63 59 A T 56544783 1753 110 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGAAGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510870 56510871 56510871 exon -13 0.80952380952381 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGAAGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 1640 810 0.904976035712172 0.926731513261212 0.915853774486692 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA -0.0309205942088588 -0.0331988642728158 0.991049187399493 0.947913503727529 NA -0.0320597292408373 NA FALSE NA 1 4.848 . missense_variant MODERATE BBS2 HGNC 967 ENST00000568104 4/16 CM031937 1 deleterious(0.01) probably_damaging(0.986) NA CAT A,T 8.236e-06 16:56510871 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 missense_variant 5.834112 0.99068 0.98754 0.706548 0.996692305533424 0 1.8525443177165e-10 FALSE 1.21826e-05 ENSE00000852784_017 ENSE00000852784 017 16 56544723 56544892 - 48 63 59 C G 56544787 1754 106 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGCTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510874 56510875 56510875 exon -17 0.746031746031746 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGCTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 579 762 0.985370076271964 0.999742357375991 0.992556216823977 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0494734463509333 0.0398119798419634 0.991049187399493 0.947913503727529 NA 0.0446427130964483 NA FALSE NA 1 4.501 . missense_variant MODERATE BBS2 HGNC 967 ENST00000568104 4/16 1 tolerated(0.06) benign(0.012) NA ACC C,G 8.236e-06 16:56510875 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 missense_variant 2.344032 0.98817 0.9821 0.706548 0.984255092841004 0 1.8525443177165e-10 FALSE 4.06075e-06 ENSE00000852784_018 ENSE00000852784 018 16 56544723 56544892 - 48 63 59 C G 56544807 1755 86 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTCGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510894 56510895 56510895 exon 27 0.428571428571429 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTCGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 797 919 0.998283463163053 0.998495125019472 0.998389294091263 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0623868332420225 0.038564747485445 0.991049187399493 0.947913503727529 NA 0.0504757903637338 NA FALSE NA 1 1.671 . missense_variant MODERATE BBS2 HGNC 967 ENST00000568104 4/16 1 deleterious(0) probably_damaging(0.913) NA CCA C,G 8.236e-06 16:56510895 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 missense_variant 5.617141 0.97566 0.92031 0.706548 0.999068759399013 0 1.8525443177165e-10 FALSE 4.06085e-06 ENSE00000852784_019 ENSE00000852784 019 16 56544723 56544892 - 48 63 59 A C 56544813 1756 80 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAAGTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510900 56510901 56510901 exon 21 0.333333333333333 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAAGTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 98 236 0.997452820292513 0.997875707875584 0.997664264084049 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0615561903714823 0.0379453303415571 0.991049187399493 0.947913503727529 NA 0.0497507603565197 NA FALSE NA 0.842 0.065 . missense_variant MODERATE BBS2 HGNC 967 ENST00000568104 4/16 1 tolerated(0.45) benign(0.001) NA AAT A,C 8.236e-06 16:56510901 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 missense_variant 1.695128 0.96889 0.82765 0.706548 0.974122206318829 0 1.8525443177165e-10 FALSE NA ENSE00000852784_020 ENSE00000852784 020 16 56544723 56544892 - 48 63 59 T C 56544820 1757 73 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAGTGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510907 56510908 56510908 exon 14 0.222222222222222 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAGTGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 630 357 1 1 1 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0641033700789692 0.0400696224659727 0.991049187399493 0.947913503727529 NA 0.0520864962724709 NA FALSE NA 1 5.826 . missense_variant MODERATE BBS2 HGNC 967 ENST00000568104 4/16 1 deleterious(0.03) benign(0.253) NA ATT T,C 8.236e-06 16:56510908 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 missense_variant 3.990918 0.99449 0.98888 0.706298 0.998730281544274 0 1.8525443177165e-10 FALSE 4.06078e-06 ENSE00000852784_021 ENSE00000852784 021 16 56544723 56544892 - 48 63 59 T C 56544823 1758 70 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGGCAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510910 56510911 56510911 exon 11 0.174603174603175 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGGCAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 255 1506 1 0.998931541513718 0.999465770756859 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0641033700789692 0.0390011639796906 0.991049187399493 0.947913503727529 NA 0.0515522670293299 NA FALSE NA 1 7.541 . missense_variant MODERATE BBS2 HGNC 967 ENST00000568104 4/16 1 deleterious(0) benign(0.321) NA GTC T,C 8.236e-06 16:56510911 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 missense_variant 5.039187 0.99449 0.99303 0.706298 0.998273136299142 0 1.8525443177165e-10 FALSE 4.06081e-06 ENSE00000852784_023 ENSE00000852784 023 16 56544723 56544892 - 48 63 59 C T 56544846 1760 47 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGATTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510933 56510934 56510934 upstr_intron -13 -0.203389830508475 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGATTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 1675 367 0.997667342084755 0.999568823436812 0.998618082760783 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0617707121637241 0.0396384459027842 0.991049187399493 0.947913503727529 NA 0.0507045790332541 NA FALSE NA 0.004 0.326 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 3/15 1 NA ACC C,T 8.236e-06 16:56510934 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.543784 0.22741 0.02571 0.062308 0.47062603228923 0.0461015 1.8525443177165e-10 FALSE 4.06095e-06 ENSE00000852784_024 ENSE00000852784 024 16 56544723 56544892 - 48 63 59 T C 56544856 1761 37 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAGTGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510943 56510944 56510944 upstr_intron -23 -0.372881355932203 TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAGTGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 408 546 0 0.000670021076090479 0.000335010538045239 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA -0.935896629921031 -0.959260356457937 0.991049187399493 0.947913503727529 NA -0.947578493189484 NA TRUE NA 0.158 0.455 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 3/15 1 NA ATT T,C 8.236e-06 16:56510944 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.460151 0.63803 0.4579 0.099367 0.740884100682298 0.0461015 1.8525443177165e-10 FALSE 4.06184e-06 ENSE00000852784_025 ENSE00000852784 025 16 56544723 56544892 - 48 63 59 T C 56544862 1762 31 TATATTTGGAGTAAATGGAGAAACGATGGCGTGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510949 56510950 56510950 upstr_intron -29 -0.474576271186441 TATATTTGGAGTAAATGGAGAAACGATGGCGTGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 222 253 0.996805340312715 0.990482076564568 0.993643708438642 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0609087103916844 0.0305516990305404 0.991049187399493 0.947913503727529 NA 0.0457302047111124 NA FALSE NA 0 -0.391 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 3/15 1 NA ATG T,C 8.236e-06 16:56510950 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.158201 0.20283 0.12857 0.062308 0.503372052367223 0.0461015 1.8525443177165e-10 FALSE 4.062e-06 ENSE00000852784_026 ENSE00000852784 026 16 56544723 56544892 - 48 63 59 C T 56544868 1763 25 TATATTTGGAGTAAATGGAGAAACAATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510955 56510956 56510956 upstr_intron -35 -0.576271186440678 TATATTTGGAGTAAATGGAGAAACAATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 155 107 0.999734191737001 0.981674558717847 0.990704375227424 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0638375618159702 0.0217441811838202 0.991049187399493 0.947913503727529 NA 0.0427908714998952 NA FALSE NA 0.009 1.504 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 3/15 1 NA TCG C,T 8.236e-06 16:56510956 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.323544 0.24548 0.41608 0.062308 0.617840030799405 0.0461015 1.8525443177165e-10 FALSE 1.62547e-05 ENSE00000852784_027 ENSE00000852784 027 16 56544723 56544892 - 48 63 59 G A 56544869 1764 24 TATATTTGGAGTAAATGGAGAAATGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510956 56510957 56510957 upstr_intron -36 -0.593220338983051 TATATTTGGAGTAAATGGAGAAATGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 908 467 0.998985850526464 0.999918466542311 0.999452158534388 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0630892206054336 0.0399880890082838 0.991049187399493 0.947913503727529 NA 0.0515386548068587 NA FALSE NA 0 -0.75 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 3/15 rs377552597 1 NA A:0.0009 A:0 CGT G,A 0.0001153 16:56510957 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant -0.817559 0.08955 0.00725 0.062308 0.789161955024937 0.0606727 1.8525443177165e-10 FALSE 8.53471e-05 ENSE00000852784_028 ENSE00000852784 028 16 56544723 56544892 - 48 63 59 T C 56544871 1765 22 TATATTTGGAGTAAATGGAGAGACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 56510958 56510959 56510959 upstr_intron -38 -0.627118644067797 TATATTTGGAGTAAATGGAGAGACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT mutant NA NA NA NA NA 1271 905 0.998392681455733 0.998514472662948 0.998453577059341 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 NA NA 0.0624960515347019 0.0385840951289209 0.991049187399493 0.947913503727529 NA 0.0505400733318114 NA FALSE NA 0 0.158 . intron_variant MODIFIER BBS2 HGNC 967 ENST00000568104 3/15 1 NA TTT T,C 2.471e-05 16:56510959 BBS2 HGNC Symbol protein_coding 53447 ENSG00000125124 ENSE00003646139 intron_variant 0.21385 0.28253 0.16832 0.062308 0.517541632057766 0.0606727 1.8525443177165e-10 FALSE 1.21912e-05 ENSE00000852784_BRK ENSE00000852784 BRK 16 56544723 56544892 - 48 63 59 A,G; T,T NA NA NA TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCTTGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGCCATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT 56510810 56510980 NA NA NA NA NA NA TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCTTGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGCCATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT TATATTTGGAGTAAATGGAGAAACGATGGCATGCTAATGGTTTGGGGTTTTATTTTCAGGTTACTGGAGACAATGTTAATTCCTTGGCCTTGTGTGACTTTGATGGTGATGGAAAGAAAGAGGTATGTGGGGGAGGAGATATCTCTCTTGTGTGTTCAGCCAAATGAATT control 14 24 0 0 0 2891 2030 0.00110481213469812 0.0242740129891822 0.0126894125619402 0.99231303939123 0.989785335407757 0.935896629921031 0.959930377534027 -0.99231303939123 -0.989785335407757 -0.934791817786333 -0.935656364544845 0.991049187399493 0.947913503727529 -0.991049187399493 -0.935224091165589 0.0558250962339042 TRUE TRUE NA NA NA NA NA BBS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BBS2 NA NA NA ENSG00000125124 ENSE00003646139 NA NA NA NA NA NA NA 1.8525443177165e-10 FALSE NA ENSE00000853736_000 ENSE00000853736 000 13 95244450 95244619 - 45 69 56 NA NA NA NA NA TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 NA NA NA NA NA NA TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC natural 10 50 0.85 0.85 0.85 2185 2450 0.906718227099157 0.961923902209395 0.934321064654276 0.85 0.85 0.906718227099157 0.961923902209395 0 0 0 0 0.85 0.934321064654276 0 0 0 FALSE FALSE NA NA NA NA NA TGDS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TGDS NA NA NA ENSG00000088451 ENSE00003579850 NA NA NA NA NA NA NA 8.78036163423323e-06 FALSE NA ENSE00000853736_002 ENSE00000853736 002 13 95244450 95244619 - 45 69 56 C T 95244467 220 153 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCATGCCTCTTTAGTCATGC 94592195 94592365 94592212 94592213 94592213 downstr_intron 28 1.63636363636364 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCATGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 890 1209 0.947914510149736 0.963804561459887 0.955859535804812 0.85 0.85 0.906718227099157 0.961923902209395 NA NA 0.0411962830505793 0.0018806592504923 0.85 0.934321064654276 NA 0.0215384711505358 NA FALSE NA 0 -1.513 . intron_variant&non_coding_transcript_variant MODIFIER TGDS HGNC 20324 ENST00000498294 3/7 rs567708446 1 T:0.0004 T:0 T:0.0014 NA T:0 T:0 T:0.001 ACG C,T 4.119e-05 13:94592213 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 intron_variant 0.137995 0.20441 0.02997 0.156188 0.624980648574122 0.128959 8.78036163423323e-06 FALSE 4.14437e-05 ENSE00000853736_006 ENSE00000853736 006 13 95244450 95244619 - 45 69 56 C A 95244478 224 142 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTTTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592223 94592224 94592224 downstr_intron 17 1.38636363636364 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTTTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 129 672 1 0.99005688878783 0.995028444393915 0.85 0.85 0.906718227099157 0.961923902209395 NA NA 0.0932817729008433 0.0281329865784347 0.85 0.934321064654276 NA 0.060707379739639 NA FALSE NA 0 -0.862 . intron_variant&non_coding_transcript_variant MODIFIER TGDS HGNC 20324 ENST00000498294 3/7 1 NA ACA C,A 1.647e-05 13:94592224 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 intron_variant -0.013295 0.1782 0.0186 0.156188 0.341808085252895 0.128959 8.78036163423323e-06 FALSE NA ENSE00000853736_008 ENSE00000853736 008 13 95244450 95244619 - 45 69 56 A T 95244491 226 129 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTAAGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592236 94592237 94592237 downstr_intron 4 1.09090909090909 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTAAGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 101 875 0.998479276597561 1 0.99923963829878 0.85 0.85 0.906718227099157 0.961923902209395 NA NA 0.0917610494984038 0.0380760977906048 0.85 0.934321064654276 NA 0.0649185736445043 NA FALSE NA 0 -0.959 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TGDS HGNC 20324 ENST00000498294 3/7 1 NA CAT A,T 1.647e-05 13:94592237 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 splice_region_variant -0.090811 0.21165 0.08374 0.156188 0.586181162704083 0.320633 8.78036163423323e-06 FALSE 8.33681e-06 ENSE00000853736_009 ENSE00000853736 009 13 95244450 95244619 - 45 69 56 C A 95244495 227 125 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACATGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592240 94592241 94592241 exon -1 1 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACATGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 47 131 0 0.00387238791037006 0.00193619395518503 0.85 0.85 0.906718227099157 0.961923902209395 NA NA -0.906718227099157 -0.958051514299025 0.85 0.934321064654276 NA -0.932384870699091 NA TRUE NA 1 5.852 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW TGDS HGNC 20324 ENST00000498294 3/8 1 NA CCT C,A 8.237e-06 13:94592241 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 missense_variant 4.417582 0.98457 0.9757 0.562547 0.995830732217882 0 8.78036163423323e-06 FALSE NA ENSE00000853736_012 ENSE00000853736 012 13 95244450 95244619 - 45 69 56 A G 95244526 230 94 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCACTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592271 94592272 94592272 exon -32 0.550724637681159 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCACTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 284 212 0.992206449262933 1 0.996103224631466 0.85 0.85 0.906718227099157 0.961923902209395 NA NA 0.0854882221637764 0.0380760977906048 0.85 0.934321064654276 NA 0.0617821599771906 NA FALSE NA 1 6.974 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TGDS HGNC 20324 ENST00000498294 3/8 1 NA AAT A,G 8.237e-06 13:94592272 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 missense_variant 2.631549 0.98806 0.98411 0.706548 0.985552028185666 0 8.78036163423323e-06 FALSE 4.1091e-06 ENSE00000853736_013 ENSE00000853736 013 13 95244450 95244619 - 45 69 56 A T 95244537 231 83 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAAACTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592282 94592283 94592283 exon 27 0.391304347826087 TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAAACTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 160 882 0.971405997131245 0.970762970377884 0.971084483754565 0.85 0.85 0.906718227099157 0.961923902209395 NA NA 0.0646877700320887 0.00883906816848889 0.85 0.934321064654276 NA 0.0367634191002888 NA FALSE NA 1 0.867 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TGDS HGNC 20324 ENST00000498294 3/8 1 NA GAT A,T 1.647e-05 13:94592283 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 missense_variant 5.387534 0.97279 0.86698 0.706548 0.998208672155916 0 8.78036163423323e-06 FALSE 8.24375e-06 ENSE00000853736_018 ENSE00000853736 018 13 95244450 95244619 - 45 69 56 C T 95244593 236 27 TTGGAAAAGCTAATGTCACTTTTTGTATTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592338 94592339 94592339 upstr_intron -30 -0.517857142857143 TTGGAAAAGCTAATGTCACTTTTTGTATTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 75 252 0.981934642758788 0.950260356488497 0.966097499623643 0.85 0.85 0.906718227099157 0.961923902209395 NA NA 0.0752164156596316 -0.0116635457208977 0.85 0.934321064654276 NA 0.0317764349693669 NA FALSE NA 0.077 -0.191 . intron_variant&non_coding_transcript_variant MODIFIER TGDS HGNC 20324 ENST00000498294 2/7 1 NA ACA C,T 3.296e-05 13:94592339 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 intron_variant 0.342092 0.16194 0.03188 0.062308 0.541317578103468 0.100706 8.78036163423323e-06 FALSE 2.45848e-05 ENSE00000853736_020 ENSE00000853736 020 13 95244450 95244619 - 45 69 56 C A 95244595 238 25 TTGGAAAAGCTAATGTCACTTTTTTTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592340 94592341 94592341 upstr_intron -32 -0.553571428571429 TTGGAAAAGCTAATGTCACTTTTTTTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 207 32 0.997792355287069 0.998801785531118 0.998297070409094 0.85 0.85 0.906718227099157 0.961923902209395 NA NA 0.0910741281879122 0.0368778833217233 0.85 0.934321064654276 NA 0.0639760057548177 NA FALSE NA 0.021 -0.28 . intron_variant&non_coding_transcript_variant MODIFIER TGDS HGNC 20324 ENST00000498294 2/7 1 NA ACA C,A 1.648e-05 13:94592341 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 intron_variant 0.934514 0.19345 0.04833 0.062308 0.746602625217892 0.101601 8.78036163423323e-06 FALSE NA ENSE00000853736_021 ENSE00000853736 021 13 95244450 95244619 - 45 69 56 A C 95244597 239 23 TTGGAAAAGCTAATGTCACTTTGTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592342 94592343 94592343 upstr_intron -34 -0.589285714285714 TTGGAAAAGCTAATGTCACTTTGTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 1331 228 0.800211591972421 0.900284842572066 0.850248217272243 0.85 0.85 0.906718227099157 0.961923902209395 NA NA -0.106506635126736 -0.0616390596373293 0.85 0.934321064654276 NA -0.0840728473820325 NA FALSE NA 0.051 0.558 . intron_variant&non_coding_transcript_variant MODIFIER TGDS HGNC 20324 ENST00000498294 2/7 1 NA AAA A,C 8.239e-06 13:94592343 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 intron_variant 0.817341 0.18559 0.1256 0.062308 0.843260747620983 0.101601 8.78036163423323e-06 FALSE 4.9999e-06 ENSE00000853736_022 ENSE00000853736 022 13 95244450 95244619 - 45 69 56 G A 95244601 240 19 TTGGAAAAGCTAATGTCATTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC 94592195 94592365 94592346 94592347 94592347 upstr_intron -38 -0.660714285714286 TTGGAAAAGCTAATGTCATTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC TTGGAAAAGCTAATGTCACTTTTTGTGTTGCCCCTTCTGTGCTCTCTTCTTTCAAGCTGGATTACTGTGCAAGCTTGAAGAATCTTGAAACCATTTCTAACAAACAGAACTACAAATTTATACAGGTATGAACATTTTCTTGTAACTGTACCGTGCCTCTTTAGTCATGC mutant NA NA NA NA NA 380 202 0.980909877891165 0.988485103194648 0.984697490542906 0.85 0.85 0.906718227099157 0.961923902209395 NA NA 0.0741916507920078 0.0265612009852524 0.85 0.934321064654276 NA 0.0503764258886301 NA FALSE NA 0.063 0.145 . intron_variant&non_coding_transcript_variant MODIFIER TGDS HGNC 20324 ENST00000498294 2/7 1 NA AGT G,A 8.24e-06 13:94592347 TGDS HGNC Symbol protein_coding 22206 ENSG00000088451 ENSE00003579850 intron_variant 1.176529 0.17367 0.06565 0.062308 0.743619381124128 0.101719 8.78036163423323e-06 FALSE 5.06196e-06 ENSE00000853751_000 ENSE00000853751 000 13 95862911 95863080 - 35 90 45 NA NA NA NA NA TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 NA NA NA NA NA NA TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT natural 21 24 1 0.99702680458148 0.99851340229074 1805 2793 0.892175863339887 0.991377725384026 0.941776794361956 1 0.99702680458148 0.892175863339887 0.991377725384026 0 0 0 0 0.99851340229074 0.941776794361956 0 0 0 FALSE FALSE NA NA NA NA NA ABCC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC4 NA NA NA ENSG00000125257 ENSE00003516540 NA NA NA NA NA NA NA 0.0013146830739273 FALSE NA ENSE00000853751_001 ENSE00000853751 001 13 95862911 95863080 - 35 90 45 A C 95862923 241 158 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCGTTTTCATTGCAT 95210656 95210826 95210668 95210669 95210669 downstr_intron 23 1.67647058823529 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCGTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 145 50 1 1 1 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.107824136660113 0.00862227461597398 0.99851340229074 0.941776794361956 NA 0.0582232056380437 NA FALSE NA 0.006 0.445 . intron_variant MODIFIER ABCC4 HGNC 55 ENST00000431522 5/20 1 NA AAG A,C 8.236e-06 13:95210669 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 intron_variant -0.224705 0.22558 0.14822 0.156188 0.769244665667612 0.0882499 0.0013146830739273 FALSE 4.0845e-06 ENSE00000853751_002 ENSE00000853751 002 13 95862911 95863080 - 35 90 45 G C 95862932 242 149 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTGAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210677 95210678 95210678 downstr_intron 14 1.41176470588235 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTGAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 1647 314 0.99803089110441 0.972328318647158 0.985179604875784 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.105855027764524 -0.0190494067368684 0.99851340229074 0.941776794361956 NA 0.0434028105138276 NA FALSE NA 0 -0.939 . intron_variant MODIFIER ABCC4 HGNC 55 ENST00000431522 5/20 1 NA TGA G,C 8.236e-06 13:95210678 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 intron_variant -0.395748 0.08471 0.00269 0.156188 0.687161692172199 0.0882499 0.0013146830739273 FALSE NA ENSE00000853751_003 ENSE00000853751 003 13 95862911 95863080 - 35 90 45 T C 95862936 243 145 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCGGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210681 95210682 95210682 downstr_intron 10 1.29411764705882 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCGGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 1186 1099 0.999722074706971 0.999856067611362 0.999789071159166 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.107546211367084 0.00847834222733568 0.99851340229074 0.941776794361956 NA 0.05801227679721 NA FALSE NA 0 -2.19 . intron_variant MODIFIER ABCC4 HGNC 55 ENST00000431522 5/20 rs200516503 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CTG T,C 5.765e-05 13:95210682 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 intron_variant 0.627007 0.14235 0.00817 0.156188 0.845853167720675 0.200718 0.0013146830739273 FALSE 4.47325e-05 ENSE00000853751_004 ENSE00000853751 004 13 95862911 95863080 - 35 90 45 C T 95862941 244 140 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAACTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210686 95210687 95210687 downstr_intron 5 1.14705882352941 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAACTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 179 541 0.986902241406496 0.794832508022935 0.890867374714716 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.0947263780666092 -0.196545217361091 0.99851340229074 0.941776794361956 NA -0.0509094196472408 NA FALSE NA 0.974 4.029 . splice_region_variant&intron_variant LOW ABCC4 HGNC 55 ENST00000431522 5/20 rs372813116 1 NA T:0 T:0.0001 GCT C,T 1.647e-05 13:95210687 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 splice_region_variant 1.892866 0.98277 0.65895 0.156188 0.93012447955161 0.966551 0.0013146830739273 FALSE 2.43891e-05 ENSE00000853751_006 ENSE00000853751 006 13 95862911 95863080 - 35 90 45 T C 95862980 246 101 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAGTCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210725 95210726 95210726 exon -35 0.622222222222222 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAGTCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 48 132 1 0.8 0.9 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.107824136660113 -0.191377725384026 0.99851340229074 0.941776794361956 NA -0.0417767943619563 NA FALSE NA 1 7.384 . missense_variant MODERATE ABCC4 HGNC 55 ENST00000431522 5/21 rs200675964&COSM1128341&COSM1128342 1 possibly_damaging(0.831) NA ATT T,C 8.236e-06 13:95210726 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 missense_variant 5.017241 0.99081 0.98132 0.706548 0.998846926654248 0 0.0013146830739273 FALSE 8.12334e-06 ENSE00000853751_007 ENSE00000853751 007 13 95862911 95863080 - 35 90 45 G A 95862995 247 86 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCATAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210740 95210741 95210741 exon 41 0.455555555555556 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCATAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 1296 90 0.991737900600562 0.998238665291283 0.994988282945923 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.0995620372606758 0.00686093990725722 0.99851340229074 0.941776794361956 NA 0.0532114885839665 NA FALSE NA 1 6.086 . missense_variant MODERATE ABCC4 HGNC 55 ENST00000431522 5/21 1 benign(0.443) NA TGT G,A 8.236e-06 13:95210741 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 missense_variant 4.166867 0.98867 0.97318 0.706548 0.998698806998773 0 0.0013146830739273 FALSE 8.12407e-06 ENSE00000853751_011 ENSE00000853751 011 13 95862911 95863080 - 35 90 45 T G 95863004 251 77 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGACGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210749 95210750 95210750 exon 32 0.355555555555556 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGACGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 34 95 1 0.99631115653543 0.998155578267715 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.107824136660113 0.00493343115140443 0.99851340229074 0.941776794361956 NA 0.0563787839057589 NA FALSE NA 1 7.384 . missense_variant MODERATE ABCC4 HGNC 55 ENST00000431522 5/21 rs536107894 1 possibly_damaging(0.906) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CTT T,G 0.0003953 13:95210750 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 missense_variant 3.117352 0.99109 0.98452 0.706298 0.997826506241431 0 0.0013146830739273 FALSE 0.000349329 ENSE00000853751_012 ENSE00000853751 012 13 95862911 95863080 - 35 90 45 C A 95863008 252 73 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGTGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210753 95210754 95210754 exon 28 0.311111111111111 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGTGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 129 22 1 1 1 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.107824136660113 0.00862227461597398 0.99851340229074 0.941776794361956 NA 0.0582232056380437 NA FALSE NA 1 3.585 rs11568658 missense_variant MODERATE ABCC4 HGNC 55 ENST00000431522 5/21 rs11568658&CM087178 1 probably_damaging(0.995) A:0.0517 A:0 A:0.0634 NA A:0.12 A:0.0308 A:0.0644 A:0.0064 A:0.0228 CCC C,A 0.045 13:95210754 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 missense_variant 7.007642 0.98537 0.96045 0.706298 0.995505164821674 0 0.0013146830739273 FALSE 0.048743 ENSE00000853751_013 ENSE00000853751 013 13 95862911 95863080 - 35 90 45 A G 95863010 253 71 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCACGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210755 95210756 95210756 exon 26 0.288888888888889 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCACGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 1014 606 1 0.976593161122841 0.988296580561421 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.107824136660113 -0.0147845642611847 0.99851340229074 0.941776794361956 NA 0.0465197861994643 NA FALSE NA 1 5.525 . missense_variant MODERATE ABCC4 HGNC 55 ENST00000431522 5/21 1 benign(0.077) NA CAT A,G 1.647e-05 13:95210756 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 missense_variant 2.615807 0.99111 0.97218 0.706298 0.976493190330006 0 0.0013146830739273 FALSE 4.0623e-06 ENSE00000853751_014 ENSE00000853751 014 13 95862911 95863080 - 35 90 45 A G 95863016 254 65 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACACGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210761 95210762 95210762 exon 20 0.222222222222222 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACACGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 636 29 0.865292370213256 0.994506862966565 0.92989961658991 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA -0.0268834931266303 0.00312913758253852 0.99851340229074 0.941776794361956 NA -0.0118771777720459 NA FALSE NA 0 -0.404 rs45454092 missense_variant MODERATE ABCC4 HGNC 55 ENST00000431522 5/21 rs45454092 1 benign(0) G:0.0022 G:0.0083 G:0 NA G:0 G:0 G:0 G:0.0034 G:0 CAT A,G 0.0004859 13:95210762 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 missense_variant -0.886843 0.16024 0.02034 0.706298 0.813285677246017 0 0.0013146830739273 FALSE 0.000406273 ENSE00000853751_015 ENSE00000853751 015 13 95862911 95863080 - 35 90 45 C T 95863028 255 53 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCATCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210773 95210774 95210774 exon 8 0.0888888888888889 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCATCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 381 528 0.995373176713087 0.999275954551817 0.997324565632452 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.1031973133732 0.0078982291677907 0.99851340229074 0.941776794361956 NA 0.0555477712704953 NA FALSE NA 1 4.431 . missense_variant MODERATE ABCC4 HGNC 55 ENST00000431522 5/21 1 benign(0.052) NA ACG C,T 2.471e-05 13:95210774 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 missense_variant 4.229899 0.98818 0.95384 0.706298 0.996037938359515 0 0.0013146830739273 FALSE 2.43879e-05 ENSE00000853751_016 ENSE00000853751 016 13 95862911 95863080 - 35 90 45 G A 95863029 256 52 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTTGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210774 95210775 95210775 exon 7 0.0777777777777778 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTTGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 195 384 0.985542978598037 0.999587922389622 0.992565450493829 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.09336711525815 0.00821019700559633 0.99851340229074 0.941776794361956 NA 0.0507886561318732 NA FALSE NA 1 4.546 . missense_variant MODERATE ABCC4 HGNC 55 ENST00000431522 5/21 rs267603866 1 benign(0.022) NA CGA G,A 8.236e-06 13:95210775 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 missense_variant 3.242646 0.9744 0.8918 0.706298 0.959155208838172 0 0.0013146830739273 FALSE 1.62715e-05 ENSE00000853751_017 ENSE00000853751 017 13 95862911 95863080 - 35 90 45 A G 95863043 257 38 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTCATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210788 95210789 95210789 upstr_intron -8 -0.155555555555556 TATCACTGCATGAATACAATTCTCTACTTACCTCTTTCATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 673 2374 0.998770556267249 0.999048546216983 0.998909551242116 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.106594692927363 0.007670820832957 0.99851340229074 0.941776794361956 NA 0.0571327568801598 NA FALSE NA 0 0.062 . splice_region_variant&intron_variant LOW ABCC4 HGNC 55 ENST00000431522 4/20 1 NA TAA A,G 2.471e-05 13:95210789 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 splice_region_variant 0.149554 0.22679 0.03346 0.062308 0.810675905830791 0.26622 0.0013146830739273 FALSE 2.44479e-05 ENSE00000853751_019 ENSE00000853751 019 13 95862911 95863080 - 35 90 45 A G 95863052 259 29 TATCACTGCATGAATACAATTCTCTACTCACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 95210797 95210798 95210798 upstr_intron -17 -0.355555555555556 TATCACTGCATGAATACAATTCTCTACTCACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT mutant NA NA NA NA NA 434 577 1 0.999934016619861 0.999967008309931 1 0.99702680458148 0.892175863339887 0.991377725384026 NA NA 0.107824136660113 0.00855629123583523 0.99851340229074 0.941776794361956 NA 0.0581902139479743 NA FALSE NA 0 -0.247 . intron_variant MODIFIER ABCC4 HGNC 55 ENST00000431522 4/20 rs369532355 1 NA G:0 G:0.0001 TAA A,G 3.295e-05 13:95210798 ABCC4 HGNC Symbol protein_coding 281646 ENSG00000125257 ENSE00003516540 intron_variant 0.254313 0.1764 0.03049 0.062308 0.588127365838434 0.0443366 0.0013146830739273 FALSE 3.27137e-05 ENSE00000853751_BRK ENSE00000853751 BRK 13 95862911 95863080 - 35 90 45 A,G; T,T NA NA NA TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCTTGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGCCAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT 95210656 95210826 NA NA NA NA NA NA TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCTTGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGCCAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT TATCACTGCATGAATACAATTCTCTACTTACCTCTTTTATTTCAGGCACTTCGTCTTAGTAACATGGCCATGGGGAAGACAACCACAGGCCAGATAGTCAATCTGCTGTCCAATGATGTGAACAAGTTTGATCAGGTAAGCTGCAGCTCAGGGATCCTTTTTCATTGCAT control 68 32 0 0 0 91 58 0 0 0 1 0.99702680458148 0.892175863339887 0.991377725384026 -1 -0.99702680458148 -0.892175863339887 -0.991377725384026 0.99851340229074 0.941776794361956 -0.99851340229074 -0.941776794361956 0.0567366079287837 TRUE TRUE NA NA NA NA NA ABCC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC4 NA NA NA ENSG00000125257 ENSE00003516540 NA NA NA NA NA NA NA 0.0013146830739273 FALSE NA ENSE00000857044_000 ENSE00000857044 000 2 118703052 118703221 - 53 54 63 NA NA NA NA NA CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 NA NA NA NA NA NA CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG natural NA NA NA NA NA 101 550 0.99711238423832 0.995371050193087 0.996241717215703 NA NA 0.99711238423832 0.995371050193087 NA NA 0 0 NA 0.996241717215703 NA 0 NA FALSE NA NA NA NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC93 NA NA NA ENSG00000125633 ENSE00000857044 NA NA NA NA NA NA NA 0.064375261486792 FALSE NA ENSE00000857044_001 ENSE00000857044 001 2 118703052 118703221 - 53 54 63 A G 118703075 2500 147 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATCGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945498 117945499 117945499 downstr_intron 30 1.57692307692308 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATCGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 588 605 0.994556381525738 1 0.997278190762869 NA NA 0.99711238423832 0.995371050193087 NA NA -0.00255600271258216 0.00462894980691297 NA 0.996241717215703 NA 0.00103647354716541 NA FALSE NA 0.031 1.986 . downstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA CAA A,G 8.236e-06 2:117945499 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 intron_variant 0.380623 0.33235 0.20815 0.156188 0.678846477374597 0.136155 0.064375261486792 FALSE 1.22199e-05 ENSE00000857044_002 ENSE00000857044 002 2 118703052 118703221 - 53 54 63 C T 118703084 2501 138 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGAACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945507 117945508 117945508 downstr_intron 21 1.40384615384615 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGAACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 210 238 0.938664903200728 1 0.969332451600364 NA NA 0.99711238423832 0.995371050193087 NA NA -0.0584474810375913 0.00462894980691297 NA 0.996241717215703 NA -0.0269092656153392 NA FALSE NA 0 -0.119 . downstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA TCC C,T 8.236e-06 2:117945508 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 intron_variant 0.418209 0.21127 0.09088 0.156188 0.492340106180378 0.172342 0.064375261486792 FALSE 4.07037e-06 ENSE00000857044_003 ENSE00000857044 003 2 118703052 118703221 - 53 54 63 G A 118703096 2502 126 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACTTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945519 117945520 117945520 downstr_intron 9 1.17307692307692 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACTTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 260 177 0.944914438378998 1 0.972457219189499 NA NA 0.99711238423832 0.995371050193087 NA NA -0.0521979458593219 0.00462894980691297 NA 0.996241717215703 NA -0.0237844980262045 NA FALSE NA 0.462 0.43 . downstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA AGG G,A 6.589e-05 2:117945520 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 intron_variant 0.268912 0.17778 0.2263 0.156188 0.562292387785028 0.259669 0.064375261486792 FALSE 9.76205e-05 ENSE00000857044_005 ENSE00000857044 005 2 118703052 118703221 - 53 54 63 A G 118703103 2504 119 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGCAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945526 117945527 117945527 downstr_intron 2 1.03846153846154 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGCAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 120 41 0 0 0 NA NA 0.99711238423832 0.995371050193087 NA NA -0.99711238423832 -0.995371050193087 NA 0.996241717215703 NA -0.996241717215703 NA TRUE NA 0.992 3.468 . downstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA TAC A,G 3.295e-05 2:117945527 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 splice_donor_variant 3.544028 0.97952 0.96691 0.156188 0.975229500722841 0.974552 0.064375261486792 FALSE 6.10054e-05 ENSE00000857044_008 ENSE00000857044 008 2 118703052 118703221 - 53 54 63 A G 118703111 2507 111 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACCCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945534 117945535 117945535 exon -7 0.888888888888889 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACCCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 1613 103 0.99149455475176 0.98592574405481 0.988710149403285 NA NA 0.99711238423832 0.995371050193087 NA NA -0.00561782948655942 -0.00944530613827699 NA 0.996241717215703 NA -0.00753156781241821 NA FALSE NA 1 0.436 rs138765937 downstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 rs138765937 1 NA G:0 G:0.0001 GAG A,G 8.236e-06 2:117945535 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 synonymous_variant -0.106087 0.87643 0.65025 0.67177 0.374409188989663 0 0.064375261486792 FALSE 4.06636e-06 ENSE00000857044_009 ENSE00000857044 009 2 118703052 118703221 - 53 54 63 C T 118703119 2508 103 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTACAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945542 117945543 117945543 exon -15 0.740740740740741 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTACAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 30 130 1 0.964135834299923 0.982067917149962 NA NA 0.99711238423832 0.995371050193087 NA NA 0.00288761576168028 -0.0312352158931636 NA 0.996241717215703 NA -0.0141738000657416 NA FALSE NA 0 0.18 . downstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA GCA C,T 8.236e-06 2:117945543 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 missense_variant -0.046614 0.18155 0.03668 0.67177 0.624507579645142 0 0.064375261486792 FALSE 4.06593e-06 ENSE00000857044_010 ENSE00000857044 010 2 118703052 118703221 - 53 54 63 C G 118703126 2509 96 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTCACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945549 117945550 117945550 exon -22 0.611111111111111 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTCACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 156 75 1 0.961583820747224 0.980791910373612 NA NA 0.99711238423832 0.995371050193087 NA NA 0.00288761576168028 -0.0337872294458625 NA 0.996241717215703 NA -0.0154498068420911 NA FALSE NA 0 -1.353 . downstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 rs577755174 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCA C,G 4.118e-05 2:117945550 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 missense_variant -0.913071 0.14863 0.01862 0.67177 0.976869242677835 0 0.064375261486792 FALSE 2.84601e-05 ENSE00000857044_012 ENSE00000857044 012 2 118703052 118703221 - 53 54 63 G A 118703139 2511 83 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCTGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945562 117945563 117945563 exon 20 0.37037037037037 CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCTGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 112 157 0.967311772917483 0.905357124880839 0.936334448899161 NA NA 0.99711238423832 0.995371050193087 NA NA -0.0298006113208371 -0.0900139253122485 NA 0.996241717215703 NA -0.0599072683165428 NA FALSE NA 0.817 0.967 rs141821049 downstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 rs141821049 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGG G,A 9.884e-05 2:117945563 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 missense_variant 2.490312 0.95857 0.69745 0.67177 0.853018458582042 0 0.064375261486792 FALSE 6.91141e-05 ENSE00000857044_014 ENSE00000857044 014 2 118703052 118703221 - 53 54 63 C T 118703200 2513 22 CTTGGCTTCTGTCTTATTCCCAAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945623 117945624 117945624 upstr_intron -42 -0.650793650793651 CTTGGCTTCTGTCTTATTCCCAAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 235 810 0.986668654127538 0.994706195652384 0.990687424889961 NA NA 0.99711238423832 0.995371050193087 NA NA -0.0104437301107817 -0.000664854540702531 NA 0.996241717215703 NA -0.00555429232574212 NA FALSE NA 0 -0.622 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:117945624 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00000857044 intron_variant 0.096237 0.13618 0.00469 0.088506 0.499979160217973 0.057823 0.064375261486792 FALSE 5.75081e-05 ENSE00000857044_015 ENSE00000857044 015 2 118703052 118703221 - 53 54 63 C G 118703200 2514 22 CTTGGCTTCTGTCTTATTCCCCAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG 117945475 117945645 117945623 117945624 117945624 upstr_intron -42 -0.650793650793651 CTTGGCTTCTGTCTTATTCCCCAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG CTTGGCTTCTGTCTTATTCCCGAATGCTCAGGAGAGGTGTTTATTATGTTTTCATTGTTTCAGACCCTCTCCAGTGGAGAGCCGCCTGGTACCTTGACCTCTGCAATGACTCATGACGTAAGTACCTGCCTGCTCAGGACTGGCATTGTCTCCTGAGGGCAGGCGGCCAG mutant NA NA NA NA NA 52 740 0.976470289594287 0.981647355427897 0.979058822511092 NA NA 0.99711238423832 0.995371050193087 NA NA -0.0206420946440332 -0.0137236947651902 NA 0.996241717215703 NA -0.0171828947046117 NA FALSE NA 0 -0.622 NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC93 NA NA NA ENSG00000125633 ENSE00000857044 intron_variant -0.078453 0.10883 0.0102 0.088506 0.425556326207399 0.057823 0.064375261486792 FALSE 4.10772e-06 ENSE00000857479_000 ENSE00000857479 000 19 6161176 6161345 + 50 81 39 NA NA NA NA NA CGCCCTCCCCTTTCCCCAGTGCCCACCTCCCACACTTACAGAGTACAAGTTGTTGTTCTTCTTCATTGGCAGTCTGTACTGGATGATCGCTTTTAGGGGCTCTAGGCTGCTCTGTGGAATCTGAAAGAAAGTTCCCTGTGGGCTTCATGGCAACCCAGCCCTGGGAAAGA 6161164 6161334 NA NA NA NA NA NA TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGCGATCATCCAGTACAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGCGATCATCCAGTACAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG natural 77 60 0.928097537361335 0.987796185962941 0.957946861662138 328 291 0.986592209603843 0.988971881431349 0.987782045517596 0.928097537361335 0.987796185962941 0.986592209603843 0.988971881431349 0 0 0 0 0.957946861662138 0.987782045517596 0 0 0 FALSE FALSE NA NA NA NA NA ACSBG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSBG2 NA NA NA ENSG00000130377 ENSE00003612317 NA NA NA NA NA NA NA 3.48441388003295e-07 FALSE NA ENSE00000857743_000 ENSE00000857743 000 17 37437600 37437769 - 42 75 53 NA NA NA NA NA TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 NA NA NA NA NA NA TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT natural 99 236 0.924409260075495 0.860317589230514 0.892363424653004 4369 6729 0.870255662146522 0.925088453477912 0.897672057812217 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 0 0 0 0 0.892363424653004 0.897672057812217 0 0 0 FALSE FALSE NA NA NA NA NA FBXL20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXL20 NA NA NA ENSG00000108306 ENSE00000857743 NA NA NA NA NA NA NA 0.998874815002399 TRUE NA ENSE00000857743_001 ENSE00000857743 001 17 37437600 37437769 - 42 75 53 A G 37437611 1668 159 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTCTAGTAATTCAT 39281346 39281516 39281357 39281358 39281358 downstr_intron 31 1.75609756097561 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTCTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant 203 217 0.847295143756338 0.85 0.848647571878169 2212 1090 0.941362023352738 0.934486116936263 0.9379240701445 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 -0.0771141163191573 -0.0103175892305136 0.0711063612062156 0.00939766345835058 0.892363424653004 0.897672057812217 -0.0437158527748355 0.0402520123322831 0.0839678651071186 FALSE FALSE 0 0.587 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 8/13 1 NA AAA A,G 8.236e-06 17:39281358 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant 1.07791 0.24452 0.04484 0.108992 0.811650443618689 0.127386 0.998874815002399 TRUE 4.16025e-06 ENSE00000857743_002 ENSE00000857743 002 17 37437600 37437769 - 42 75 53 C T 37437614 1669 156 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTATTTTAGTAATTCAT 39281346 39281516 39281360 39281361 39281361 downstr_intron 28 1.68292682926829 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTATTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 2266 557 0.971196921374312 0.98008120536005 0.975639063367181 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA 0.10094125922779 0.0549927518821378 0.892363424653004 0.897672057812217 NA 0.0779670055549641 NA FALSE NA 0 -1.037 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 8/13 rs369921413 1 NA ACA C,T 1.647e-05 17:39281361 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant 1.357905 0.26738 0.03753 0.108992 0.61148393769958 0.127386 0.998874815002399 TRUE 8.25137e-06 ENSE00000857743_003 ENSE00000857743 003 17 37437600 37437769 - 42 75 53 A G 37437615 1670 155 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCCGTTTTAGTAATTCAT 39281346 39281516 39281361 39281362 39281362 downstr_intron 27 1.65853658536585 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCCGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 2541 322 0.960137774773089 0.889934608192511 0.9250361914828 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA 0.0898821126265674 -0.0351538452854012 0.892363424653004 0.897672057812217 NA 0.0273641336705831 NA FALSE NA 0 -1.154 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 8/13 rs376804504 1 NA G:0 G:0.0001 CAG A,G 1.647e-05 17:39281362 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant 0.821772 0.24381 0.04576 0.108992 0.822062172696174 0.186211 0.998874815002399 TRUE 1.23617e-05 ENSE00000857743_005 ENSE00000857743 005 17 37437600 37437769 - 42 75 53 A C 37437630 1672 140 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCGTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281376 39281377 39281377 downstr_intron 12 1.29268292682927 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCGTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 40 940 0.8 0.861323820541695 0.830661910270847 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA -0.0702556621465219 -0.0637646329362171 0.892363424653004 0.897672057812217 NA -0.0670101475413695 NA FALSE NA 0.001 0.705 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 8/13 1 NA AAG A,C 8.236e-06 17:39281377 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant 0.262642 0.25937 0.06934 0.162113 0.785213312634304 0.183647 0.998874815002399 TRUE 8.14584e-06 ENSE00000857743_007 ENSE00000857743 007 17 37437600 37437769 - 42 75 53 G C 37437632 1674 138 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCGCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281378 39281379 39281379 downstr_intron 10 1.24390243902439 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCGCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant 16 76 0.93284816250039 0.85 0.891424081250195 NA NA NA NA NA 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 0.00843890242489453 -0.0103175892305136 NA NA 0.892363424653004 0.897672057812217 -0.000939343402809545 NA NA NA FALSE 0 0.309 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 8/13 1 NA GGG G,C 1.647e-05 17:39281379 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant 0.696174 0.28176 0.10918 0.162113 0.642257042627557 0.325406 0.998874815002399 TRUE 1.22178e-05 ENSE00000857743_010 ENSE00000857743 010 17 37437600 37437769 - 42 75 53 A T 37437648 1677 122 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACATGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281394 39281395 39281395 exon -7 0.92 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACATGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 247 498 0.959046732256113 0.91763182942661 0.938339280841362 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA 0.0887910701095914 -0.00745662405130199 0.892363424653004 0.897672057812217 NA 0.0406672230291447 NA FALSE NA 0.313 -0.087 rs139229422 synonymous_variant LOW FBXL20 HGNC 24679 ENST00000394294 8/14 rs139229422 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 AAG A,T 2.471e-05 17:39281395 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 synonymous_variant 0.255069 0.92072 0.31344 0.706298 0.824133020868779 0 0.998874815002399 TRUE 1.62615e-05 ENSE00000857743_011 ENSE00000857743 011 17 37437600 37437769 - 42 75 53 G A 37437657 1678 113 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAATTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281403 39281404 39281404 exon -16 0.8 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAATTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 17 287 0.95 0.845118946201759 0.89755947310088 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA 0.079744337853478 -0.0799695072761526 0.892363424653004 0.897672057812217 NA -0.000112584711337294 NA FALSE NA 0.999 1.836 rs151242613 synonymous_variant LOW FBXL20 HGNC 24679 ENST00000394294 8/14 rs151242613 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0018 A:0 AGT G,A 9.06e-05 17:39281404 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 synonymous_variant 0.75123 0.92419 0.6857 0.706298 0.568570905631657 0 0.998874815002399 TRUE 6.50364e-05 ENSE00000857743_012 ENSE00000857743 012 17 37437600 37437769 - 42 75 53 T C 37437692 1679 78 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACGTAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281438 39281439 39281439 exon 25 0.333333333333333 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACGTAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 532 382 0.976605578887165 0.993889559960339 0.985247569423752 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA 0.106349916740643 0.0688011064824274 0.892363424653004 0.897672057812217 NA 0.0875755116115352 NA FALSE NA 1 7.605 . missense_variant MODERATE FBXL20 HGNC 24679 ENST00000394294 8/14 1 tolerated(0.29) benign(0.003) NA ATG T,C 1.647e-05 17:39281439 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 missense_variant 1.862504 0.97139 0.90009 0.615465 0.979776019764271 0 0.998874815002399 TRUE 2.84926e-05 ENSE00000857743_013 ENSE00000857743 013 17 37437600 37437769 - 42 75 53 T A 37437697 1680 73 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCATGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281443 39281444 39281444 exon 20 0.266666666666667 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCATGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 291 302 0.8 0.800478140136594 0.800239070068297 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA -0.0702556621465219 -0.124610313341318 0.892363424653004 0.897672057812217 NA -0.0974329877439201 NA FALSE NA 1 5.879 . missense_variant MODERATE FBXL20 HGNC 24679 ENST00000394294 8/14 1 tolerated(0.12) probably_damaging(0.995) NA CTT T,A 8.236e-06 17:39281444 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 missense_variant 3.755337 0.95219 0.84696 0.615465 0.961399941152942 0 0.998874815002399 TRUE 4.08841e-06 ENSE00000857743_014 ENSE00000857743 014 17 37437600 37437769 - 42 75 53 A G 37437721 1681 49 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTCCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281467 39281468 39281468 upstr_intron -5 -0.0754716981132075 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTCCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 649 410 0.793950287695377 0.776713444720401 0.785331866207889 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA -0.0763053744511454 -0.148375008757511 0.892363424653004 0.897672057812217 NA -0.112340191604328 NA FALSE NA 1 3.324 . splice_region_variant&intron_variant LOW FBXL20 HGNC 24679 ENST00000394294 7/13 1 NA GAA A,G 8.237e-06 17:39281468 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 splice_region_variant 1.236465 0.8417 0.57947 0.108992 0.834007073472868 0.830341 0.998874815002399 TRUE 4.10924e-06 ENSE00000857743_015 ENSE00000857743 015 17 37437600 37437769 - 42 75 53 A G 37437722 1682 48 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTCTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281468 39281469 39281469 upstr_intron -6 -0.0943396226415094 TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTCTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 1602 185 0.968952026103114 0.930447089170201 0.949699557636657 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA 0.0986963639565916 0.00535863569228934 0.892363424653004 0.897672057812217 NA 0.0520274998244405 NA FALSE NA 1 4.191 . splice_region_variant&intron_variant LOW FBXL20 HGNC 24679 ENST00000394294 7/13 1 NA AAA A,G 8.237e-06 17:39281469 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 splice_region_variant 1.531583 0.85522 0.65777 0.108992 0.836593679206704 0.805662 0.998874815002399 TRUE 4.11008e-06 ENSE00000857743_017 ENSE00000857743 017 17 37437600 37437769 - 42 75 53 A C 37437740 1684 30 TCCTTTGAGACAATGTCAATAATCATTTTGTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281486 39281487 39281487 upstr_intron -24 -0.433962264150943 TCCTTTGAGACAATGTCAATAATCATTTTGTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant 90 96 0.894410401588408 0.85 0.872205200794204 1522 953 0.867283708855442 0.92317363356223 0.895228671208836 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 -0.0299988584870874 -0.0103175892305136 -0.0029719532910798 -0.00191481991568199 0.892363424653004 0.897672057812217 -0.0201582238588005 -0.00244338660338089 0.0177148372554196 FALSE FALSE 0.818 3.638 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 7/13 1 NA AAA A,C 8.237e-06 17:39281487 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant -0.52469 0.34632 0.59167 0.108992 0.611513159866822 0.128023 0.998874815002399 TRUE 1.66861e-05 ENSE00000857743_018 ENSE00000857743 018 17 37437600 37437769 - 42 75 53 A G 37437744 1685 26 TCCTTTGAGACAATGTCAATAATCACTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281490 39281491 39281491 upstr_intron -28 -0.509433962264151 TCCTTTGAGACAATGTCAATAATCACTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 2157 157 0.933722412625549 0.901275798618544 0.917499105622047 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA 0.0634667504790268 -0.0238126548593677 0.892363424653004 0.897672057812217 NA 0.0198270478098296 NA FALSE NA 0 0.03 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 7/13 rs368711239 1 NA G:0 G:0.0001 AAT A,G 8.238e-06 17:39281491 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant 0.063397 0.26023 0.07759 0.108992 0.499473686427244 0.187901 0.998874815002399 TRUE 4.20868e-06 ENSE00000857743_019 ENSE00000857743 019 17 37437600 37437769 - 42 75 53 T C 37437751 1686 19 TCCTTTGAGACAATGTCAGTAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281497 39281498 39281498 upstr_intron -35 -0.641509433962264 TCCTTTGAGACAATGTCAGTAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant 149 203 0.85 0.85 0.85 836 951 0.967035120584606 0.914591240063172 0.940813180323889 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 -0.0744092600754952 -0.0103175892305137 0.0967794584380839 -0.0104972134147403 0.892363424653004 0.897672057812217 -0.0423634246530045 0.0431411225116718 0.0855045471646763 FALSE FALSE 0 -0.758 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 7/13 1 NA ATT T,C 2.472e-05 17:39281498 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant -0.515108 0.15639 0.01021 0.108992 0.547821008026183 0.192005 0.998874815002399 TRUE 8.63424e-06 ENSE00000857743_020 ENSE00000857743 020 17 37437600 37437769 - 42 75 53 A G 37437756 1687 14 TCCTTTGAGACAACGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281502 39281503 39281503 upstr_intron -40 -0.735849056603774 TCCTTTGAGACAACGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant 29 47 0.85 0.85 0.85 2810 132 0.938061587225902 0.933438428409407 0.935750007817655 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 -0.0744092600754953 -0.0103175892305136 0.0678059250793805 0.00834997493149525 0.892363424653004 0.897672057812217 -0.0423634246530045 0.0380779500054379 0.0804413746584424 FALSE FALSE 0 0.113 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 7/13 1 NA CAT A,G 8.241e-06 17:39281503 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant -0.115304 0.26402 0.04735 0.108992 0.583477325682639 0.128023 0.998874815002399 TRUE 1.77332e-05 ENSE00000857743_021 ENSE00000857743 021 17 37437600 37437769 - 42 75 53 T C 37437757 1688 13 TCCTTTGAGACAGTGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 39281503 39281504 39281504 upstr_intron -41 -0.754716981132076 TCCTTTGAGACAGTGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT mutant NA NA NA NA NA 539 458 0.907648790817594 0.78355315784666 0.845600974332127 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 NA NA 0.0373931286710717 -0.141535295631252 0.892363424653004 0.897672057812217 NA -0.0520710834800903 NA FALSE NA 0 -0.794 . intron_variant MODIFIER FBXL20 HGNC 24679 ENST00000394294 7/13 1 NA ATT T,C 8.241e-06 17:39281504 FBXL20 HGNC Symbol protein_coding 149879 ENSG00000108306 ENSE00000857743 intron_variant 0.065603 0.19583 0.0453 0.108992 0.468933329356367 0.128023 0.998874815002399 TRUE 4.4318e-06 ENSE00000857743_BRK ENSE00000857743 BRK 17 37437600 37437769 - 42 75 53 A,G; T,T NA NA NA TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTTTCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGCCAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT 39281346 39281516 NA NA NA NA NA NA TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTTTCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGCCAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT TCCTTTGAGACAATGTCAATAATCATTTTTTTCTTACTTTTTAATCTTTCTAGCTAGAAGATGAAGCTCTCAAGTACATAGGTGCACACTGCCCTGAACTGGTGACTTTGAACTTGCAGACTTGCTTGGTAAACATCCCTTCTCACAACTCTTCTGTTTTAGTAATTCAT control 18 77 0 0 0 458 2538 0.00395984842917531 0.00870564178274632 0.00633274510596081 0.924409260075495 0.860317589230514 0.870255662146522 0.925088453477912 -0.924409260075495 -0.860317589230514 -0.866295813717347 -0.916382811695166 0.892363424653004 0.897672057812217 -0.892363424653004 -0.891339312706256 0.00102411194674834 TRUE TRUE NA NA NA NA NA FBXL20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXL20 NA NA NA ENSG00000108306 ENSE00000857743 NA NA NA NA NA NA NA 0.998874815002399 TRUE NA ENSE00000858111_000 ENSE00000858111 000 19 6684736 6684905 - 50 60 60 NA NA NA NA NA TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 NA NA NA NA NA NA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA natural NA NA NA NA NA 593 628 0.917176640108748 0.99014028394952 0.953658462029134 NA NA 0.917176640108748 0.99014028394952 NA NA 0 0 NA 0.953658462029134 NA 0 NA FALSE NA NA NA NA NA NA C3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C3 NA NA NA ENSG00000125730 ENSE00003679929 NA NA NA NA NA NA NA 0.999590151258431 TRUE NA ENSE00000858111_001 ENSE00000858111 001 19 6684736 6684905 - 50 60 60 G A 6684754 535 152 TCTGGGGCAGAGGGGCATAGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684742 6684743 6684743 downstr_intron 32 1.6530612244898 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCTATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 12 217 0.95 0.95 0.95 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0328233598912515 -0.0401402839495204 NA 0.953658462029134 NA -0.00365846202913445 NA FALSE NA 0.008 1.662 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA TGG G,A 8.236e-06 19:6684743 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant 0.26415 0.19638 0.17095 0.053691 0.447790964175399 0.161169 0.999590151258431 TRUE 4.06058e-06 ENSE00000858111_002 ENSE00000858111 002 19 6684736 6684905 - 50 60 60 G A 6684755 536 151 TCTGGGGCAGAGGGGCATGAGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684743 6684744 6684744 downstr_intron 31 1.63265306122449 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCTCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 99 11 1 1 1 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0828233598912516 0.00985971605047964 NA 0.953658462029134 NA 0.0463415379708656 NA FALSE NA 0 -0.294 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA GGG G,A 1.647e-05 19:6684744 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant -0.016868 0.16221 0.10281 0.053691 0.376540066433929 0.161169 0.999590151258431 TRUE 1.62423e-05 ENSE00000858111_003 ENSE00000858111 003 19 6684736 6684905 - 50 60 60 G T 6684764 537 142 TCTGGGGCAGAGGGGCATGGGCCAGGCATGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684752 6684753 6684753 downstr_intron 22 1.44897959183673 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACATGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 135 1846 1 0.992056814317625 0.996028407158813 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0828233598912516 0.00191653036810469 NA 0.953658462029134 NA 0.0423699451296781 NA FALSE NA 0.021 1.167 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA AGG G,T 8.236e-06 19:6684753 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant 0.090944 0.20146 0.14786 0.078448 0.729527635066573 0.253166 0.999590151258431 TRUE 1.21819e-05 ENSE00000858111_004 ENSE00000858111 004 19 6684736 6684905 - 50 60 60 G A 6684765 538 141 TCTGGGGCAGAGGGGCATGGGCCAGGCAGATGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684753 6684754 6684754 downstr_intron 21 1.42857142857143 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACATCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 1103 1399 0.996181752567737 0.997731564169387 0.996956658368562 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0790051124589888 0.00759128021986688 NA 0.953658462029134 NA 0.0432981963394278 NA FALSE NA 0 -0.723 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA GGT G,A 8.236e-06 19:6684754 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant 0.53093 0.17887 0.0326 0.078448 0.719021988855356 0.189688 0.999590151258431 TRUE NA ENSE00000858111_005 ENSE00000858111 005 19 6684736 6684905 - 50 60 60 T A 6684774 539 132 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTACTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684762 6684763 6684763 downstr_intron 12 1.24489795918367 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGTAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 27 671 0.993739108013955 0.921757394461388 0.957748251237672 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0765624679052069 -0.0683828894881321 NA 0.953658462029134 NA 0.00408978920853742 NA FALSE NA 0 -0.606 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA TTC T,A 8.236e-06 19:6684763 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant 0.94765 0.21024 0.11217 0.078448 0.805309505464228 0.189688 0.999590151258431 TRUE 4.06065e-06 ENSE00000858111_007 ENSE00000858111 007 19 6684736 6684905 - 50 60 60 C T 6684786 541 120 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACTGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684774 6684775 6684775 exon -1 1 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCAGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 439 488 0 0 0 NA NA 0.917176640108748 0.99014028394952 NA NA -0.917176640108748 -0.99014028394952 NA 0.953658462029134 NA -0.953658462029134 NA TRUE NA 0.999 0.941 rs190354796 upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 rs190354796 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0.0002 T:0 CCG C,T 2.471e-05 19:6684775 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 splice_region_variant 2.165387 0.91509 0.73179 0.615465 0.908680364397294 0 0.999590151258431 TRUE 1.62427e-05 ENSE00000858111_010 ENSE00000858111 010 19 6684736 6684905 - 50 60 60 C T 6684812 544 94 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTTAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684800 6684801 6684801 exon -27 0.566666666666667 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTAAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 90 1601 0.754255882259514 0.802859704660305 0.77855779345991 NA NA 0.917176640108748 0.99014028394952 NA NA -0.162920757849235 -0.187280579289215 NA 0.953658462029134 NA -0.175100668569225 NA FALSE NA 0 -1.114 rs145237412 upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA TCA C,T 8.236e-06 19:6684801 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 missense_variant 0.531801 0.17403 0.02741 0.615465 0.327721454611835 0 0.999590151258431 TRUE NA ENSE00000858111_013 ENSE00000858111 013 19 6684736 6684905 - 50 60 60 A G 6684828 547 78 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAGCCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684816 6684817 6684817 exon 18 0.3 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGCTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 528 418 1 1 1 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0828233598912516 0.00985971605047964 NA 0.953658462029134 NA 0.0463415379708656 NA FALSE NA 0 -0.899 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA AAC A,G 8.236e-06 19:6684817 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 synonymous_variant -0.128498 0.13472 0.01357 0.615465 0.574922538520239 0 0.999590151258431 TRUE 4.06058e-06 ENSE00000858111_014 ENSE00000858111 014 19 6684736 6684905 - 50 60 60 C A 6684830 548 76 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACACTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684818 6684819 6684819 exon 16 0.266666666666667 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGTGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 40 19 1 1 1 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0828233598912516 0.00985971605047964 NA 0.953658462029134 NA 0.0463415379708656 NA FALSE NA 0 -0.442 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA CCC C,A 8.236e-06 19:6684819 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 missense_variant 3.733817 0.23192 0.26926 0.615465 0.983460609052732 0 0.999590151258431 TRUE 4.06068e-06 ENSE00000858111_015 ENSE00000858111 015 19 6684736 6684905 - 50 60 60 G A 6684853 549 53 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAATGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684841 6684842 6684842 upstr_intron -8 -0.116666666666667 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCATTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 413 115 1 0.990161857460036 0.995080928730018 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0828233598912516 2.15735105155712e-05 NA 0.953658462029134 NA 0.0414224667008836 NA FALSE NA 0.164 1.913 rs11569540 upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 rs11569540 1 A:0.0038 A:0.0144 A:0 NA A:0 A:0 A:0 A:0.0154 A:0.0001 AGT G,A 0.001268 19:6684842 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 splice_region_variant 1.146118 0.85862 0.44938 0.06567 0.723747318286151 0.97385 0.999590151258431 TRUE 0.00109638 ENSE00000858111_016 ENSE00000858111 016 19 6684736 6684905 - 50 60 60 T C 6684854 550 52 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGCGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684842 6684843 6684843 upstr_intron -9 -0.133333333333333 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCGCTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 1001 744 0.999464311271883 0.997395264809442 0.998429788040663 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0822876711631342 0.00725498085992204 NA 0.953658462029134 NA 0.0447713260115281 NA FALSE NA 0.084 0.539 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 rs200391664 1 C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 GTG T,C 1.647e-05 19:6684843 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant 0.28391 0.20349 0.10277 0.06567 0.730599686872611 0.238757 0.999590151258431 TRUE 8.12117e-06 ENSE00000858111_018 ENSE00000858111 018 19 6684736 6684905 - 50 60 60 G A 6684862 552 44 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAAAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684850 6684851 6684851 upstr_intron -17 -0.266666666666667 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTTTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 182 116 1 1 1 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0828233598912516 0.00985971605047964 NA 0.953658462029134 NA 0.0463415379708656 NA FALSE NA 0.007 0.234 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA AGA G,A 8.236e-06 19:6684851 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant -0.078473 0.24024 0.16616 0.06567 0.427538427365369 0.227644 0.999590151258431 TRUE 4.06062e-06 ENSE00000858111_020 ENSE00000858111 020 19 6684736 6684905 - 50 60 60 G A 6684864 554 42 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAAAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684852 6684853 6684853 upstr_intron -19 -0.3 ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTTTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 103 56 0.973693182932388 1 0.986846591466194 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0565165428236393 0.00985971605047964 NA 0.953658462029134 NA 0.0331881294370595 NA FALSE NA 0 -0.558 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA AGA G,A 1.647e-05 19:6684853 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant -0.147963 0.24559 0.08597 0.06567 0.351622045490624 0.224575 0.999590151258431 TRUE 8.12117e-06 ENSE00000858111_022 ENSE00000858111 022 19 6684736 6684905 - 50 60 60 A T 6684885 556 21 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTTAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684873 6684874 6684874 upstr_intron -40 -0.65 ATCACAGGCAGCAGAAGGCTAAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 15 795 0.95 0.784343629437246 0.867171814718623 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0328233598912514 -0.205796654512274 NA 0.953658462029134 NA -0.0864866473105113 NA FALSE NA 0.002 0.227 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:6684874 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant -0.111505 0.22296 0.07294 0.06567 0.534875758379836 0.124799 0.999590151258431 TRUE 4.06065e-06 ENSE00000858111_023 ENSE00000858111 023 19 6684736 6684905 - 50 60 60 A C 6684885 557 21 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTCAGCCTTCTGCTGCCTGTGAT 6684724 6684894 6684873 6684874 6684874 upstr_intron -40 -0.65 ATCACAGGCAGCAGAAGGCTGAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 21 979 1 0.99356973679813 0.996784868399065 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0828233598912516 0.0034294528486094 NA 0.953658462029134 NA 0.0431264063699305 NA FALSE NA 0.002 0.227 NA NA NA C3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C3 NA NA NA ENSG00000125730 ENSE00003679929 intron_variant -0.209871 0.20515 0.06819 0.06567 0.595991328523157 0.124799 0.999590151258431 TRUE 4.06065e-06 ENSE00000858111_024 ENSE00000858111 024 19 6684736 6684905 - 50 60 60 C A 6684888 558 18 TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTACCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTCTGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGACTTCTGCTGCCTGTGAT 6684724 6684894 6684876 6684877 6684877 upstr_intron -43 -0.7 ATCACAGGCAGCAGAAGTCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA mutant NA NA NA NA NA 50 97 0.964459596141082 0.979914942071206 0.972187269106144 NA NA 0.917176640108748 0.99014028394952 NA NA 0.0472829560323331 -0.0102253418783141 NA 0.953658462029134 NA 0.0185288070770095 NA FALSE NA 0 -1.086 . upstream_gene_variant MODIFIER C3 HGNC 1318 ENST00000596179 1 NA GCC C,A 8.236e-06 19:6684877 C3 HGNC Symbol protein_coding 52858 ENSG00000125730 ENSE00003679929 intron_variant 0.348168 0.26152 0.0925 0.06567 0.356307243780798 0.123465 0.999590151258431 TRUE 4.06065e-06 ENSE00000858111_BRK ENSE00000858111 BRK 19 6684736 6684905 - 50 60 60 A,G; T,T NA NA NA TCTGGGGCAGAGGGGCATGGGCCAGGCAGGTGTGGGTTTCTGTTCCTTGGCGACAAGGTGCCTTGGCCTTTTCCTTCAGCTGTGACTGTGAAACCCTCATTTTCCTTGGTAAGCAGAGTGAAAAGAGAGAAGAGAGCATGTTGGGAATTAAGCCTTCTGCTGCCTGTGAT 6684724 6684894 NA NA NA NA NA NA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCTTACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGCCAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA ATCACAGGCAGCAGAAGGCTTAATTCCCAACATGCTCTCTTCTCTCTTTTCACTCTGCAGACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTAAGGAACAGAAACCCACACCTGCCTGGCCCATGCCCCTCTGCCCCAGA control NA NA NA NA NA 25 65 0 0 0 NA NA 0.917176640108748 0.99014028394952 NA NA -0.917176640108748 -0.99014028394952 NA 0.953658462029134 NA -0.953658462029134 NA TRUE NA NA NA NA NA NA C3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C3 NA NA NA ENSG00000125730 ENSE00003679929 NA NA NA NA NA NA NA 0.999590151258431 TRUE NA ENSE00000858245_000 ENSE00000858245 000 19 46133177 46133346 - 32 96 42 NA NA NA NA NA ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG 45629918 45630088 NA NA NA NA NA NA ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG natural 920 1495 0.847613161415215 0.83888511440427 0.843249137909742 2359 3472 0.971872754015709 0.972007064396156 0.971939909205932 0.847613161415215 0.83888511440427 0.971872754015709 0.972007064396156 0 0 0 0 0.843249137909742 0.971939909205932 0 0 0 FALSE FALSE NA NA NA NA NA EML2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EML2 NA NA NA ENSG00000125746 ENSE00003591675 NA NA NA NA NA NA NA 7.57699496433696e-10 FALSE NA ENSE00000858245_002 ENSE00000858245 002 19 46133177 46133346 - 32 96 42 A G 46133198 2708 149 ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACCTTTCTCATCCCCTCCTGCTGG 45629918 45630088 45629939 45629940 45629940 downstr_intron 11 1.35483870967742 ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACCTTTCTCATCCCCTCCTGCTGG ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG mutant NA NA NA NA NA 162 215 0.820688803930827 0.802346984929186 0.811517894430006 0.847613161415215 0.83888511440427 0.971872754015709 0.972007064396156 NA NA -0.151183950084882 -0.16966007946697 0.843249137909742 0.971939909205932 NA -0.160422014775926 NA FALSE NA 0 -0.369 . intron_variant MODIFIER EML2 HGNC 18035 ENST00000587152 10/21 1 NA AAG A,G 8.236e-06 19:45629940 EML2 HGNC Symbol protein_coding 38635 ENSG00000125746 ENSE00003591675 intron_variant -0.050718 0.07754 0.0025 0.298561 0.784159269353721 0.121525 7.57699496433696e-10 FALSE 8.1242e-06 ENSE00000858245_008 ENSE00000858245 008 19 46133177 46133346 - 32 96 42 C T 46133248 2714 99 ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTATGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG 45629918 45630088 45629989 45629990 45629990 exon -40 0.59375 ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTATGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG mutant NA NA NA NA NA 14 121 0.95 0.953356589209421 0.95167829460471 0.847613161415215 0.83888511440427 0.971872754015709 0.972007064396156 NA NA -0.0218727540157088 -0.0186504751867351 0.843249137909742 0.971939909205932 NA -0.0202616146012219 NA FALSE NA 0.999 0.581 . synonymous_variant LOW EML2 HGNC 18035 ENST00000587152 10/22 1 NA ACA C,T 8.236e-06 19:45629990 EML2 HGNC Symbol protein_coding 38635 ENSG00000125746 ENSE00003591675 missense_variant 1.957749 0.96503 0.79831 0.741868 0.770334273760538 0 7.57699496433696e-10 FALSE 8.12262e-06 ENSE00000858245_023 ENSE00000858245 023 19 46133177 46133346 - 32 96 42 G C 46133318 2729 29 ACTCCCCTTGCCTCTGTCCCCCTCCTCTGTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG 45629918 45630088 45630059 45630060 45630060 upstr_intron -14 -0.30952380952381 ACTCCCCTTGCCTCTGTCCCCCTCCTCTGTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG mutant NA NA NA NA NA 101 148 0.8 0.8 0.8 0.847613161415215 0.83888511440427 0.971872754015709 0.972007064396156 NA NA -0.171872754015709 -0.172007064396156 0.843249137909742 0.971939909205932 NA -0.171939909205932 NA FALSE NA 0.002 0.969 . intron_variant MODIFIER EML2 HGNC 18035 ENST00000587152 9/21 1 NA AGA G,C 8.237e-06 19:45630060 EML2 HGNC Symbol protein_coding 38635 ENSG00000125746 ENSE00003591675 intron_variant 1.12873 0.21858 0.09654 0.14245 0.87922800121998 0.0706458 7.57699496433696e-10 FALSE 4.08343e-06 ENSE00000858245_BRK ENSE00000858245 BRK 19 46133177 46133346 - 32 96 42 A,G; T,T NA NA NA ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTTTAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGCCGAGGTGACTTTTCTCATCCCCTCCTGCTGG 45629918 45630088 NA NA NA NA NA NA ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTTTAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGCCGAGGTGACTTTTCTCATCCCCTCCTGCTGG ACTCCCCTTGCCTCTGTCCCCCTCCTCTCTCCTCCTCTTTAGAATGGAGGCAACCTGCTGTGTGCAGTGGATGAATCCAATGATCACATGCTCTCGGTGTGGGACTGGGCCAAGGAGACCAAGGTGGTGGATGTCAAGGTGAGGTGACTTTTCTCATCCCCTCCTGCTGG control 238 103 0 0 0 NA NA NA NA NA 0.847613161415215 0.83888511440427 0.971872754015709 0.972007064396156 -0.847613161415215 -0.83888511440427 NA NA 0.843249137909742 0.971939909205932 -0.843249137909742 NA NA NA TRUE NA NA NA NA NA EML2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EML2 NA NA NA ENSG00000125746 ENSE00003591675 NA NA NA NA NA NA NA 7.57699496433696e-10 FALSE NA ENSE00000859129_000 ENSE00000859129 000 20 13604048 13604217 - 45 69 56 NA NA NA NA NA GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT 13623400 13623570 NA NA NA NA NA NA GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT natural 255 235 0.985056705545703 0.968590629073252 0.976823667309477 9202 9281 0.954355720976607 0.884616481285519 0.919486101131063 0.985056705545703 0.968590629073252 0.954355720976607 0.884616481285519 0 0 0 0 0.976823667309477 0.919486101131063 0 0 0 FALSE FALSE NA NA NA NA NA TASP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TASP1 NA NA NA ENSG00000089123 ENSE00003605039 NA NA NA NA NA NA NA 0.956178727459365 TRUE NA ENSE00000859129_001 ENSE00000859129 001 20 13604048 13604217 - 45 69 56 T C 13604065 251 153 GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAGTATTTGTGAGTTTATCT 13623400 13623570 13623417 13623418 13623418 downstr_intron 28 1.63636363636364 GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAGTATTTGTGAGTTTATCT GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT mutant NA NA NA NA NA 420 361 1 1 1 0.985056705545703 0.968590629073252 0.954355720976607 0.884616481285519 NA NA 0.045644279023393 0.115383518714481 0.976823667309477 0.919486101131063 NA 0.0805138988689371 NA FALSE NA 0.005 -0.148 . intron_variant MODIFIER TASP1 HGNC 15859 ENST00000544472 4/4 1 NA ATT T,C 8.239e-06 20:13623418 TASP1 HGNC Symbol protein_coding 249548 ENSG00000089123 ENSE00003605039 intron_variant 0.398461 0.21084 0.0689 0.106106 0.849549612564414 0.0689857 0.956178727459365 TRUE 1.25718e-05 ENSE00000859129_002 ENSE00000859129 002 20 13604048 13604217 - 45 69 56 T C 13604116 252 102 GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCGCTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT 13623400 13623570 13623468 13623469 13623469 exon -24 0.666666666666667 GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCGCTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT mutant NA NA NA NA NA 1074 2197 0.995091322273304 0.998305615198227 0.996698468735765 0.985056705545703 0.968590629073252 0.954355720976607 0.884616481285519 NA NA 0.0407356012966968 0.113689133912708 0.976823667309477 0.919486101131063 NA 0.0772123676047024 NA FALSE NA 1 3.138 rs139152946 missense_variant MODERATE TASP1 HGNC 15859 ENST00000544472 4/5 rs139152946 1 benign(0.011) C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 GTG T,C 3.297e-05 20:13623469 TASP1 HGNC Symbol protein_coding 249548 ENSG00000089123 ENSE00003605039 missense_variant 0.465439 0.9816 0.75963 0.6512 0.988232292573987 0 0.956178727459365 TRUE 3.3134e-05 ENSE00000859129_BRK ENSE00000859129 BRK 20 13604048 13604217 - 45 69 56 A,G; T,T NA NA NA GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATTTGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGCCATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT 13623400 13623570 NA NA NA NA NA NA GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATTTGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGCCATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT GAAAGTTTGAGAAGTTGTGATTTTGCAATGAATAATCTCTCCCCTTGGTTTCATAGGCAATTGAAAAGCTGCAGGCCGGTGCTCTTGCAACTGACGCAGTCACTGCAGCACTGGTGGAACTTGAGGTATTTCTTTTCTCTGTTTTATTTAAAATATTTGTGAGTTTATCT control 761 292 0.041314124144309 0.0723506140444077 0.0568323690943583 1109 434 0.00519182685937728 0.0349230485395603 0.0200574376994688 0.985056705545703 0.968590629073252 0.954355720976607 0.884616481285519 -0.943742581401394 -0.896240015028844 -0.94916389411723 -0.849693432745958 0.976823667309477 0.919486101131063 -0.919991298215119 -0.899428663431594 0.020562634783525 TRUE TRUE NA NA NA NA NA TASP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TASP1 NA NA NA ENSG00000089123 ENSE00003605039 NA NA NA NA NA NA NA 0.956178727459365 TRUE NA ENSE00000859210_000 ENSE00000859210 000 20 17495334 17495503 - 32 96 42 NA NA NA NA NA CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 NA NA NA NA NA NA TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG natural NA NA NA NA NA 3264 1038 0.918252904663185 0.998145489865464 0.958199197264325 NA NA 0.918252904663185 0.998145489865464 NA NA 0 0 NA 0.958199197264325 NA 0 NA FALSE NA NA NA NA NA NA BFSP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BFSP1 NA NA NA ENSG00000125864 ENSE00003801212 NA NA NA NA NA NA NA 0.000105944351029142 FALSE NA ENSE00000859210_004 ENSE00000859210 004 20 17495334 17495503 - 32 96 42 G A 17495374 329 130 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTACCTGTCCTTTGCCGCACTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514728 17514729 17514729 exon -9 0.916666666666667 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGTACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 42 39 1 0.953315438769318 0.976657719384659 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0817470953368149 -0.0448300510961464 NA 0.958199197264325 NA 0.0184585221203343 NA FALSE NA 1 2.347 rs140135049 missense_variant MODERATE BFSP1 HGNC 1040 ENST00000377873 3/8 rs140135049 1 tolerated(1) benign(0.002) NA A:0 A:0.0002 TGC G,A 0.0001071 20:17514729 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 missense_variant 0.535296 0.89607 0.26884 0.632932 0.811268511655538 0 0.000105944351029142 FALSE 0.000138067 ENSE00000859210_005 ENSE00000859210 005 20 17495334 17495503 - 32 96 42 C T 17495387 330 117 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCTGCACTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514741 17514742 17514742 exon -22 0.78125 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCAGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 513 267 1 1 1 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0817470953368149 0.00185451013453586 NA 0.958199197264325 NA 0.0418008027356754 NA FALSE NA 0.089 -0.85 . synonymous_variant LOW BFSP1 HGNC 1040 ENST00000377873 3/8 rs371432346 1 NA T:0.0002 T:0 CCG C,T 2.471e-05 20:17514742 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 synonymous_variant 2.306844 0.78091 0.08105 0.632932 0.783744130936636 0 0.000105944351029142 FALSE 4.87278e-05 ENSE00000859210_006 ENSE00000859210 006 20 17495334 17495503 - 32 96 42 A G 17495390 331 114 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCGCTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514744 17514745 17514745 exon -25 0.75 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGCGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 72 45 1 1 1 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0817470953368149 0.00185451013453586 NA 0.958199197264325 NA 0.0418008027356754 NA FALSE NA 1 1.755 . synonymous_variant LOW BFSP1 HGNC 1040 ENST00000377873 3/8 1 NA CAC A,G 8.236e-06 20:17514745 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 synonymous_variant -0.089093 0.89997 0.69076 0.632932 0.615308133644823 0 0.000105944351029142 FALSE 4.06065e-06 ENSE00000859210_007 ENSE00000859210 007 20 17495334 17495503 - 32 96 42 T G 17495397 332 107 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATAGCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514751 17514752 17514752 exon -32 0.677083333333333 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGCTATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 367 137 0.994136998284128 0.998843843101432 0.99649042069278 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0758840936209429 0.000698353235968119 NA 0.958199197264325 NA 0.0382912234284555 NA FALSE NA 1 4.656 NA NA NA BFSP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:17514752 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 missense_variant 5.589796 0.94345 0.88296 0.632932 0.995641876380809 0 0.000105944351029142 FALSE 4.06065e-06 ENSE00000859210_010 ENSE00000859210 010 20 17495334 17495503 - 32 96 42 G C 17495407 335 97 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATATCATCTTGCACAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514761 17514762 17514762 exon -42 0.572916666666667 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTGTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 10 609 0.95 1 0.975 NA NA 0.918252904663185 0.998145489865464 NA NA 0.031747095336815 0.00185451013453586 NA 0.958199197264325 NA 0.0168008027356754 NA FALSE NA 1 4.848 . missense_variant MODERATE BFSP1 HGNC 1040 ENST00000377873 3/8 1 deleterious(0) probably_damaging(0.999) NA AGA G,C 8.236e-06 20:17514762 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 missense_variant 3.811183 0.92185 0.86977 0.632932 0.994094719516827 0 0.000105944351029142 FALSE 4.06065e-06 ENSE00000859210_011 ENSE00000859210 011 20 17495334 17495503 - 32 96 42 T C 17495411 336 93 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATATCATCTTGCAGAAACTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514765 17514766 17514766 exon -46 0.53125 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAGTTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 381 1711 1 0.992525023400547 0.996262511700274 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0817470953368149 -0.00562046646491687 NA 0.958199197264325 NA 0.038063314435949 NA FALSE NA 1 3.489 . synonymous_variant LOW BFSP1 HGNC 1040 ENST00000377873 3/8 1 NA ATT T,C 8.236e-06 20:17514766 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 synonymous_variant -0.301496 0.88375 0.08968 0.632932 0.681673604661329 0 0.000105944351029142 FALSE 4.06068e-06 ENSE00000859210_013 ENSE00000859210 013 20 17495334 17495503 - 32 96 42 C T 17495430 338 74 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGTGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514784 17514785 17514785 exon 32 0.333333333333333 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACACCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 69 46 1 0.805599237196093 0.902799618598046 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0817470953368149 -0.192546252669371 NA 0.958199197264325 NA -0.0553995786662781 NA FALSE NA 0.991 0.674 . missense_variant MODERATE BFSP1 HGNC 1040 ENST00000377873 3/8 1 tolerated(0.32) benign(0.036) NA GCG C,T 8.236e-06 20:17514785 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 missense_variant 3.153406 0.8804 0.28124 0.615465 0.979609260081443 0 0.000105944351029142 FALSE 8.12183e-06 ENSE00000859210_015 ENSE00000859210 015 20 17495334 17495503 - 32 96 42 T C 17495432 340 72 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGCAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514786 17514787 17514787 exon 30 0.3125 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTGCGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 201 657 1 0.997708436695218 0.998854218347609 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0817470953368149 -0.000437053170246338 NA 0.958199197264325 NA 0.0406550210832843 NA FALSE NA 0.839 -0.071 . synonymous_variant LOW BFSP1 HGNC 1040 ENST00000377873 3/8 1 NA GTA C,C 4.118e-05 20:17514787 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 synonymous_variant 0.090237 0.84338 0.04775 0.615465 0.702494698991422 0 0.000105944351029142 FALSE 4.06085e-05 ENSE00000859210_018 ENSE00000859210 018 20 17495334 17495503 - 32 96 42 G C 17495448 343 56 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGCCTTCATCAGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514802 17514803 17514803 exon 14 0.145833333333333 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGGCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 234 52 0.987277527265663 1 0.993638763632832 NA NA 0.918252904663185 0.998145489865464 NA NA 0.069024622602478 0.00185451013453586 NA 0.958199197264325 NA 0.0354395663685069 NA FALSE NA 1 3.639 . missense_variant MODERATE BFSP1 HGNC 1040 ENST00000377873 3/8 rs201290418 1 tolerated(0.06) benign(0.167) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 C:0.0002 C:0 GGC G,C 5.765e-05 20:17514803 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 missense_variant 2.695025 0.91738 0.84938 0.615465 0.990729869434134 0 0.000105944351029142 FALSE 4.87413e-05 ENSE00000859210_019 ENSE00000859210 019 20 17495334 17495503 - 32 96 42 A G 17495456 344 48 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCGGCTTCCTGCAATGAGAGCCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514810 17514811 17514811 exon 6 0.0625 TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCCGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 36 589 1 0.996582522061212 0.998291261030606 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0817470953368149 -0.00156296780425258 NA 0.958199197264325 NA 0.0400920637662812 NA FALSE NA 0.002 -2.935 rs143752745 synonymous_variant LOW BFSP1 HGNC 1040 ENST00000377873 3/8 rs143752745 1 NA G:0 G:0.0002 CAG A,G 1.647e-05 20:17514811 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 synonymous_variant 0.622908 0.31689 0.05248 0.615465 0.585293244489395 0 0.000105944351029142 FALSE 4.06171e-05 ENSE00000859210_020 ENSE00000859210 020 20 17495334 17495503 - 32 96 42 G A 17495473 345 31 CTAGAGGAAGGGCTTCAAGGGGTCATGATTACCTTCTTGTGCCTGTCCTTTGCCGCACTGATATCATCTTGCAGAAATTGGGCTTCCAGCTGAAGGCGTAGGTTATGCAGCAAGGCTTCATCAGCTTCCTGCAATGAGAACCACATATCCCTGGCCACAGGCACCATGGA 17514688 17514858 17514827 17514828 17514828 upstr_intron -12 -0.261904761904762 TCCATGGTGCCTGTGGCCAGGGATATGTGGTTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG TCCATGGTGCCTGTGGCCAGGGATATGTGGCTCTCATTGCAGGAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTGGAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAGGTAATCATGACCCCTTGAAGCCCTTCCTCTAG mutant NA NA NA NA NA 641 32 1 1 1 NA NA 0.918252904663185 0.998145489865464 NA NA 0.0817470953368149 0.00185451013453586 NA 0.958199197264325 NA 0.0418008027356754 NA FALSE NA 0 -0.382 . intron_variant MODIFIER BFSP1 HGNC 1040 ENST00000377873 2/7 1 NA AGC G,A 1.647e-05 20:17514828 BFSP1 HGNC Symbol protein_coding 75315 ENSG00000125864 ENSE00003801212 intron_variant 0.211495 0.18029 0.01276 0.078448 0.743930708865474 0.084568 0.000105944351029142 FALSE 8.13048e-06 ENSE00000859225_000 ENSE00000859225 000 20 17600900 17601069 - 44 72 54 NA NA NA NA NA AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 NA NA NA NA NA NA AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC natural 91 62 0.998778821832517 0.995549544143902 0.997164182988209 2707 2681 0.924109518723705 0.98528485402713 0.954697186375418 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 0 0 0 0 0.997164182988209 0.954697186375418 0 0 0 FALSE FALSE NA NA NA NA NA RRBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRBP1 NA NA NA ENSG00000125844 ENSE00003742610 NA NA NA NA NA NA NA 0.000136331977393793 FALSE NA ENSE00000859225_001 ENSE00000859225 001 20 17600900 17601069 - 44 72 54 A G 17600917 348 153 GGCTCCCGGGACAAGAGGAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620271 17620272 17620272 downstr_intron 27 1.62790697674419 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTCCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 426 834 1 0.999050658149357 0.999525329074679 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 0.0137658041222271 0.997164182988209 0.954697186375418 NA 0.044828142699261 NA FALSE NA 0 0.027 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA GAA A,G 8.237e-06 20:17620272 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.066347 0.13473 0.03447 0.295142 0.557768590861404 0.0495094 0.000136331977393793 FALSE NA ENSE00000859225_004 ENSE00000859225 004 20 17600900 17601069 - 44 72 54 G C 17600922 351 148 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAAGTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620276 17620277 17620277 downstr_intron 22 1.51162790697674 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAAGTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 4747 464 0.998052201861606 0.99965900230717 0.998855602084388 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0739426831379014 0.0143741482800396 0.997164182988209 0.954697186375418 NA 0.0441584157089705 NA FALSE NA 0 0.254 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA AGT G,C 8.236e-06 20:17620277 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.135988 0.20625 0.16867 0.295142 0.60565526345602 0.0495094 0.000136331977393793 FALSE 4.06934e-06 ENSE00000859225_005 ENSE00000859225 005 20 17600900 17601069 - 44 72 54 T C 17600928 352 142 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCGGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620282 17620283 17620283 downstr_intron 16 1.37209302325581 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCGGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 143 2389 0.978986982456961 1 0.989493491228481 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.054877463733256 0.0147151459728698 0.997164182988209 0.954697186375418 NA 0.0347963048530629 NA FALSE NA 0 -1.652 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA CTG T,C 8.236e-06 20:17620283 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.373541 0.11426 0.02513 0.295142 0.327427730917568 0.0495094 0.000136331977393793 FALSE 4.06425e-06 ENSE00000859225_006 ENSE00000859225 006 20 17600900 17601069 - 44 72 54 A G 17600930 353 140 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGGGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620284 17620285 17620285 downstr_intron 14 1.32558139534884 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCCCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 536 302 1 0.966074455938302 0.983037227969151 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 -0.0192103980888281 0.997164182988209 0.954697186375418 NA 0.0283400415937334 NA FALSE NA 0 -0.145 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA GAG A,G 2.471e-05 20:17620285 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant 0.100551 0.16303 0.09652 0.295142 0.472688295297805 0.0495094 0.000136331977393793 FALSE 2.03128e-05 ENSE00000859225_007 ENSE00000859225 007 20 17600900 17601069 - 44 72 54 G A 17600934 354 136 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTTTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620288 17620289 17620289 downstr_intron 10 1.23255813953488 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTTTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 808 1134 0.98125699010233 0.971600668736422 0.976428829419376 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0571474713786254 -0.0136841852907079 0.997164182988209 0.954697186375418 NA 0.0217316430439587 NA FALSE NA 0.002 0.927 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA AGA G,A 1.647e-05 20:17620289 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.239513 0.14584 0.10006 0.295142 0.425257566142822 0.0495094 0.000136331977393793 FALSE 1.21875e-05 ENSE00000859225_009 ENSE00000859225 009 20 17600900 17601069 - 44 72 54 C T 17600950 356 120 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCTGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620304 17620305 17620305 exon -7 0.916666666666667 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCAGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 2097 2430 0.99857407975605 0.995235573519506 0.996904826637778 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0744645610323453 0.00995071949237558 0.997164182988209 0.954697186375418 NA 0.0422076402623605 NA FALSE NA 0.889 -0.443 rs138279227 upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs138279227 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 CCG C,T 0.0002059 20:17620305 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 synonymous_variant 0.994766 0.71866 0.09335 0.706548 0.524191637202798 0 0.000136331977393793 FALSE 0.000190872 ENSE00000859225_010 ENSE00000859225 010 20 17600900 17601069 - 44 72 54 T C 17600957 357 113 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGGAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620311 17620312 17620312 exon -14 0.819444444444444 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGGAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 1387 375 0.998425547884865 0.980533012984363 0.989479280434614 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0743160291611596 -0.0047518410427676 0.997164182988209 0.954697186375418 NA 0.034782094059196 NA FALSE NA 1 5.434 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs369852771 1 NA C:0 C:0.0001 TTC T,C 8.236e-06 20:17620312 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant 5.628185 0.94599 0.95615 0.706548 0.998854650397354 0 0.000136331977393793 FALSE 4.06091e-06 ENSE00000859225_011 ENSE00000859225 011 20 17600900 17601069 - 44 72 54 A G 17600960 358 110 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAGGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620314 17620315 17620315 exon -17 0.777777777777778 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACCTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 2147 1291 0.999481315494916 0.997393418305886 0.998437366900401 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0753717967712105 0.0121085642787558 0.997164182988209 0.954697186375418 NA 0.0437401805249832 NA FALSE NA 0.797 3.655 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA AAG A,G 8.236e-06 20:17620315 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant 4.550782 0.9204 0.89339 0.706548 0.998280952153655 0 0.000136331977393793 FALSE 4.06091e-06 ENSE00000859225_012 ENSE00000859225 012 20 17600900 17601069 - 44 72 54 G C 17600961 359 109 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAAGTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620315 17620316 17620316 exon -18 0.763888888888889 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAAGTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 145 477 1 1 1 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 0.0147151459728698 0.997164182988209 0.954697186375418 NA 0.0453028136245824 NA FALSE NA 0.991 3.649 rs115998262 upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs115998262 1 C:0.0014 C:0.0053 C:0 NA C:0 C:0 C:0 C:0.0011 C:0 AGT G,C 0.0001977 20:17620316 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant 3.327457 0.92687 0.89211 0.706548 0.990175885817274 0 0.000136331977393793 FALSE 0.000174626 ENSE00000859225_013 ENSE00000859225 013 20 17600900 17601069 - 44 72 54 C T 17600967 360 103 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCTTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620321 17620322 17620322 exon -24 0.680555555555556 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAAGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 406 1189 0.996083356729513 0.992457424418993 0.994270390574253 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0719738380058079 0.00717257039186281 0.997164182988209 0.954697186375418 NA 0.0395732041988354 NA FALSE NA 0.021 0.557 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA CCT C,T 8.236e-06 20:17620322 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant 5.774917 0.89629 0.44778 0.706548 0.997851029874402 0 0.000136331977393793 FALSE 4.06088e-06 ENSE00000859225_014 ENSE00000859225 014 20 17600900 17601069 - 44 72 54 A C 17600972 361 98 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTCGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620326 17620327 17620327 exon -29 0.611111111111111 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCGAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 1224 198 0.998202517701356 0.991282975102079 0.994742746401718 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0740929989776512 0.00599812107494868 0.997164182988209 0.954697186375418 NA 0.0400455600262999 NA FALSE NA 0.992 3.553 rs144392530 upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs144392530&COSM576722&COSM576723 1 C:0.0008 C:0.0008 C:0.0014 NA C:0 C:0.002 C:0 C:0 C:0.0023 TAG A,C 0.001417 20:17620327 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant 5.104834 0.92236 0.91856 0.706548 0.996852367640965 0 0.000136331977393793 FALSE 0.00116952 ENSE00000859225_016 ENSE00000859225 016 20 17600900 17601069 - 44 72 54 A G 17600984 363 86 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAGTCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620338 17620339 17620339 exon 32 0.444444444444444 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGACTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 1403 159 0.999618053609667 0.999004025294062 0.999311039451864 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0755085348859617 0.0137191712669319 0.997164182988209 0.954697186375418 NA 0.0446138530764468 NA FALSE NA 0 0.408 rs146288825 upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs146288825 1 G:0.0042 G:0.0159 G:0 NA G:0 G:0 G:0 G:0.0161 G:0 AAT A,G 0.001647 20:17620339 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant -1.462471 0.15257 0.03191 0.706548 0.396962128382169 0 0.000136331977393793 FALSE 0.00137262 ENSE00000859225_017 ENSE00000859225 017 20 17600900 17601069 - 44 72 54 C T 17600991 364 79 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTTGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620345 17620346 17620346 exon 25 0.347222222222222 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCAAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 2009 813 0.965868762384441 0.877949616204505 0.921909189294473 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0417592436607356 -0.107335237822626 0.997164182988209 0.954697186375418 NA -0.032787997080945 NA FALSE NA 0.998 5.288 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs201189565&COSM1224304&COSM1224305 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 1.647e-05 20:17620346 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant 6.388221 0.95258 0.95614 0.706548 0.999111501876253 0 0.000136331977393793 FALSE 8.12229e-06 ENSE00000859225_018 ENSE00000859225 018 20 17600900 17601069 - 44 72 54 G A 17600992 365 78 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTTGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620346 17620347 17620347 exon 24 0.333333333333333 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTTGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 1232 1526 0.922925763429099 0.999896347793707 0.961411055611403 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA -0.00118375529460613 0.0146114937665767 0.997164182988209 0.954697186375418 NA 0.00671386923598527 NA FALSE NA 0 -2.794 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:17620347 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 synonymous_variant 0.576972 0.25695 0.03297 0.706548 0.552777728690715 0 0.000136331977393793 FALSE 0.000791949 ENSE00000859225_019 ENSE00000859225 019 20 17600900 17601069 - 44 72 54 G C 17600992 366 78 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTGGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620346 17620347 17620347 exon 24 0.333333333333333 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTGGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 469 1214 0.902389842479134 0.905233682745651 0.903811762612392 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA -0.0217196762445714 -0.0800511712814793 0.997164182988209 0.954697186375418 NA -0.0508854237630254 NA FALSE NA 0 -2.794 NA NA NA RRBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRBP1 NA NA NA ENSG00000125844 ENSE00003742610 synonymous_variant 0.270939 0.26585 0.07673 0.706548 0.499774617077194 0 0.000136331977393793 FALSE 1.21838e-05 ENSE00000859225_020 ENSE00000859225 020 20 17600900 17601069 - 44 72 54 A G 17600993 367 77 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGGGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620347 17620348 17620348 exon 23 0.319444444444444 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCCCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 189 246 0.919377196887856 0.998888819901813 0.959133008394835 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA -0.0047323218358486 0.0136039658746826 0.997164182988209 0.954697186375418 NA 0.004435822019417 NA FALSE NA 1 6.279 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs374556178 1 NA G:0.0002 G:0 GAG A,G 8.236e-06 20:17620348 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant 5.48684 0.94676 0.96617 0.706548 0.998838099835596 0 0.000136331977393793 FALSE 4.06118e-06 ENSE00000859225_021 ENSE00000859225 021 20 17600900 17601069 - 44 72 54 C T 17600998 368 72 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGTTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620352 17620353 17620353 exon 18 0.25 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAACATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 3133 644 0.998491781163871 0.989489143951147 0.993990462557509 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0743822624401662 0.00420428992401656 0.997164182988209 0.954697186375418 NA 0.0392932761820914 NA FALSE NA 0.825 -0.069 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 COSM1024810 1 NA GCT T,T 8.236e-06 20:17620353 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 synonymous_variant 0.986067 0.81699 0.1323 0.706548 0.330827894843645 0 0.000136331977393793 FALSE 8.12229e-06 ENSE00000859225_022 ENSE00000859225 022 20 17600900 17601069 - 44 72 54 T C 17600999 369 71 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAGGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620353 17620354 17620354 exon 17 0.236111111111111 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAGGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 37 238 1 0.993336409919277 0.996668204959638 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 0.00805155589214634 0.997164182988209 0.954697186375418 NA 0.0419710185842206 NA FALSE NA 0.995 2.495 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA CTT T,C 8.236e-06 20:17620354 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 missense_variant 2.316606 0.87248 0.78329 0.706548 0.945769444207288 0 0.000136331977393793 FALSE 4.06118e-06 ENSE00000859225_023 ENSE00000859225 023 20 17600900 17601069 - 44 72 54 T C 17601004 370 66 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACGGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620358 17620359 17620359 exon 12 0.166666666666667 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACGGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 72 1814 1 0.999618356786597 0.999809178393299 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 0.0143335027594671 0.997164182988209 0.954697186375418 NA 0.045111992017881 NA FALSE NA 0.838 0.038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:17620359 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 synonymous_variant -0.647794 0.39854 0.48114 0.706548 0.364343256428525 0 0.000136331977393793 FALSE 8.12288e-06 ENSE00000859225_024 ENSE00000859225 024 20 17600900 17601069 - 44 72 54 T G 17601004 371 66 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACCGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620358 17620359 17620359 exon 12 0.166666666666667 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACCGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 647 1458 1 0.963379887924831 0.981689943962415 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 -0.0219049661022993 0.997164182988209 0.954697186375418 NA 0.0269927575869978 NA FALSE NA 0.838 0.038 NA NA NA RRBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRBP1 NA NA NA ENSG00000125844 ENSE00003742610 synonymous_variant -0.266592 0.38044 0.54456 0.706548 0.368105997522889 0 0.000136331977393793 FALSE 8.12288e-06 ENSE00000859225_026 ENSE00000859225 026 20 17600900 17601069 - 44 72 54 C T 17601019 373 51 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTATAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620373 17620374 17620374 upstr_intron -4 -0.0555555555555556 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTATAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 734 948 0.998305734680599 0.997221217737245 0.997763476208922 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0741962159568937 0.0119363637101151 0.997164182988209 0.954697186375418 NA 0.0430662898335044 NA FALSE NA 0 -0.044 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA ACA C,T 8.236e-06 20:17620374 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 splice_region_variant 0.201208 0.21842 0.11079 0.156188 0.49816761975557 0.0755482 0.000136331977393793 FALSE 4.06207e-06 ENSE00000859225_027 ENSE00000859225 027 20 17600900 17601069 - 44 72 54 G A 17601027 374 43 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCTTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620381 17620382 17620382 upstr_intron -12 -0.203703703703704 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCTTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 392 747 0.997345476524752 0.994191635422233 0.995768555973493 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0732359578010474 0.00890678139510315 0.997164182988209 0.954697186375418 NA 0.0410713695980753 NA FALSE NA 0 -0.7 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs376905357 1 NA A:0 A:0.0001 AGG G,A 1.647e-05 20:17620382 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant 0.266744 0.17761 0.10435 0.115753 0.482023513130955 0.0663273 0.000136331977393793 FALSE 1.62524e-05 ENSE00000859225_028 ENSE00000859225 028 20 17600900 17601069 - 44 72 54 G C 17601028 375 42 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCGCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620382 17620383 17620383 upstr_intron -13 -0.222222222222222 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCGCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 301 599 0.991536381948321 0.991995334314569 0.991765858131445 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0674268632246159 0.00671048028743859 0.997164182988209 0.954697186375418 NA 0.0370686717560272 NA FALSE NA 0 -0.164 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA GGG G,C 8.236e-06 20:17620383 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.152928 0.19419 0.23984 0.115753 0.361988225617596 0.0663273 0.000136331977393793 FALSE 4.06293e-06 ENSE00000859225_029 ENSE00000859225 029 20 17600900 17601069 - 44 72 54 G C 17601034 376 36 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGGCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620388 17620389 17620389 upstr_intron -19 -0.333333333333333 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGGCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 871 176 1 0.98988159970105 0.994940799850525 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 0.00459674567391954 0.997164182988209 0.954697186375418 NA 0.0402436134751072 NA FALSE NA 0 -0.316 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:17620389 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.294996 0.22766 0.18845 0.115753 0.42635892277816 0.0663273 0.000136331977393793 FALSE 9.34823e-05 ENSE00000859225_030 ENSE00000859225 030 20 17600900 17601069 - 44 72 54 G T 17601034 377 36 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGTCTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620388 17620389 17620389 upstr_intron -19 -0.333333333333333 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGACTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 2431 1252 0.997745331228537 0.994338138798053 0.996041735013295 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0736358125048321 0.00905328477092315 0.997164182988209 0.954697186375418 NA 0.0413445486378776 NA FALSE NA 0 -0.316 NA NA NA RRBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRBP1 NA NA NA ENSG00000125844 ENSE00003742610 intron_variant -0.166985 0.22564 0.19069 0.115753 0.470228111067627 0.0663273 0.000136331977393793 FALSE 2.03222e-05 ENSE00000859225_031 ENSE00000859225 031 20 17600900 17601069 - 44 72 54 C T 17601035 378 35 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGTTCCGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620389 17620390 17620390 upstr_intron -20 -0.351851851851852 AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAACCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 1273 105 0.998839762806757 0.998490786958902 0.998665274882829 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0747302440830517 0.0132059329317717 0.997164182988209 0.954697186375418 NA 0.0439680885074117 NA FALSE NA 0 -1.704 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA GCT C,T 8.236e-06 20:17620390 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.223777 0.13415 0.07493 0.115753 0.550304159966467 0.0663273 0.000136331977393793 FALSE 4.06458e-06 ENSE00000859225_032 ENSE00000859225 032 20 17600900 17601069 - 44 72 54 C T 17601038 379 32 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCTGTCAGACACGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620392 17620393 17620393 upstr_intron -23 -0.407407407407407 AAGGAGACACCCCCAGGTGCTCGTGTCTGACAGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 410 1105 0.984230549931909 0.997299602148944 0.990765076040427 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0601210312082037 0.0120147481218142 0.997164182988209 0.954697186375418 NA 0.036067889665009 NA FALSE NA 0 -2.462 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs370240649 1 NA T:0.0014 T:0 CCG C,T 0.000173 20:17620393 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant 0.22465 0.13201 0.04318 0.115753 0.756547825001939 0.0663273 0.000136331977393793 FALSE 0.000146362 ENSE00000859225_033 ENSE00000859225 033 20 17600900 17601069 - 44 72 54 G A 17601039 380 31 AAGGAGACACCCCCAGGTGCTCGTGTCTGATGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620393 17620394 17620394 upstr_intron -24 -0.425925925925926 AAGGAGACACCCCCAGGTGCTCGTGTCTGATGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 458 759 1 0.996035873013512 0.998017936506756 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 0.0107510189863816 0.997164182988209 0.954697186375418 NA 0.0433207501313383 NA FALSE NA 0 -4.074 rs139531808 upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs139531808 1 A:0.0018 A:0.0068 A:0 NA A:0 A:0 A:0 A:0.003 A:0 CGT G,A 0.0002553 20:17620394 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.154978 0.12305 0.04312 0.115753 0.694081559857754 0.0663273 0.000136331977393793 FALSE 0.00021958 ENSE00000859225_034 ENSE00000859225 034 20 17600900 17601069 - 44 72 54 C T 17601047 381 23 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACATGAGCACCTGGGGGTGTCTCCTT 17620254 17620424 17620401 17620402 17620402 upstr_intron -32 -0.574074074074074 AAGGAGACACCCCCAGGTGCTCATGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 852 583 1 0.909232044678791 0.954616022339395 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 -0.0760528093483395 0.997164182988209 0.954697186375418 NA -8.11640360222632e-05 NA FALSE NA 0 -5.97 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs201959919 1 T:0.0016 T:0.0061 T:0 NA T:0 T:0 T:0 T:0.003 T:0 ACG C,T 0.0003624 20:17620402 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.18673 0.11326 0.01842 0.115753 0.852796094365246 0.042904 0.000136331977393793 FALSE 0.000313286 ENSE00000859225_035 ENSE00000859225 035 20 17600900 17601069 - 44 72 54 G A 17601048 382 22 AAGGAGACACCCCCAGGTGCTTGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620402 17620403 17620403 upstr_intron -33 -0.592592592592593 AAGGAGACACCCCCAGGTGCTTGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 679 1536 1 0.992393924156883 0.996196962078441 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0758904812762949 0.00710907012975248 0.997164182988209 0.954697186375418 NA 0.0414997757030237 NA FALSE NA 0 -0.629 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA CGA G,A 8.236e-05 20:17620403 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant 0.230979 0.13158 0.04655 0.115753 0.774575649712268 0.042904 0.000136331977393793 FALSE 7.32684e-05 ENSE00000859225_036 ENSE00000859225 036 20 17600900 17601069 - 44 72 54 G C 17601056 383 14 AAGGAGACACCCCGAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 17620410 17620411 17620411 upstr_intron -41 -0.740740740740741 AAGGAGACACCCCGAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 205 905 0.967123785129698 0.996957320907616 0.982040553018657 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.043014266405993 0.0116724668804857 0.997164182988209 0.954697186375418 NA 0.0273433666432394 NA FALSE NA 0 -0.249 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs372914168 1 NA C:0 C:0.0001 TGG G,C 8.236e-06 20:17620411 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant -0.184901 0.19432 0.1571 0.115753 0.582414184959459 0.0422119 0.000136331977393793 FALSE 4.07541e-06 ENSE00000859225_037 ENSE00000859225 037 20 17600900 17601069 - 44 72 54 G T 17601058 384 12 GGCTCCCGGGACAAGAGAAAGAGTTCTCTGAGCAGAGCACATACCTGGTCCGAACTTTCAAGTTCTCCTTTTAGCTTCTCTACAATCTCTTCGAGATGCTTCACTGTGACCCGGGACTACAAAGCAAGGGGAAGGCTCCGTCAGACACGAGCACCTGGTGGTGTCTCCTT 17620254 17620424 17620412 17620413 17620413 upstr_intron -43 -0.777777777777778 AAGGAGACACCACCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC mutant NA NA NA NA NA 2555 239 0.996536662658875 0.998674234440355 0.997605448549615 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 NA NA 0.0724271439351701 0.0133893804132249 0.997164182988209 0.954697186375418 NA 0.0429082621741975 NA FALSE NA 0 -0.816 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 1 NA GGG G,T 8.236e-06 20:17620413 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003742610 intron_variant 0.012215 0.17389 0.12584 0.115753 0.734092983372646 0.0421798 0.000136331977393793 FALSE 4.07637e-06 ENSE00000859225_BRK ENSE00000859225 BRK 20 17600900 17601069 - 44 72 54 A,G; T,T NA NA NA AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTTTTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGCCATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC 17620254 17620424 NA NA NA NA NA NA AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTTTTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGCCATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC AAGGAGACACCCCCAGGTGCTCGTGTCTGACGGAGCCTTCCCCTTGCTTTGTAGTCCCGGGTCACAGTGAAGCATCTCGAAGAGATTGTAGAGAAGCTAAAAGGAGAACTTGAAAGTTCGGACCAGGTATGTGCTCTGCTCAGAGAACTCTTTCTCTTGTCCCGGGAGCC control 1376 208 0.00287038229722738 0 0.00143519114861369 90 368 0 0 0 0.998778821832517 0.995549544143902 0.924109518723705 0.98528485402713 -0.995908439535289 -0.995549544143902 -0.924109518723705 -0.98528485402713 0.997164182988209 0.954697186375418 -0.995728991839596 -0.954697186375418 0.0410318054641781 TRUE TRUE NA NA NA NA NA RRBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRBP1 NA NA NA ENSG00000125844 ENSE00003742610 NA NA NA NA NA NA NA 0.000136331977393793 FALSE NA ENSE00000859228_000 ENSE00000859228 000 20 17602068 17602237 - 35 90 45 NA NA NA NA NA CAGGGATGCCCAGCTGACAGGTTCCCAATGCTCACCGTCTCCGCCAGGATGCTGCGGTACTGGTCACACTCGGCCTGCAGTGTGCTCTGCGTCTCCTCGGCCTCCCTCAACTTGGAGGCCAGGTCCTGAGAGAGGGAAGAACAGGTGTTTAGTTAGCCACACACAAAGGT 17621422 17621592 NA NA NA NA NA NA ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG natural 25 107 1 0.997844830187435 0.998922415093717 843 712 0.989080934830087 0.983847829859594 0.98646438234484 1 0.997844830187435 0.989080934830087 0.983847829859594 0 0 0 0 0.998922415093717 0.98646438234484 0 0 0 FALSE FALSE NA NA NA NA NA RRBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRBP1 NA NA NA ENSG00000125844 ENSE00003749257 NA NA NA NA NA NA NA 0.000136331977393793 FALSE NA ENSE00000859228_018 ENSE00000859228 018 20 17602068 17602237 - 35 90 45 C T 17602157 402 81 CAGGGATGCCCAGCTGACAGGTTCCCAATGCTCACCGTCTCCGCCAGGATGCTGCGGTACTGGTCACACTCGGCCTGCAGTGTGCTCTGTGTCTCCTCGGCCTCCCTCAACTTGGAGGCCAGGTCCTGAGAGAGGGAAGAACAGGTGTTTAGTTAGCCACACACAAAGGT 17621422 17621592 17621511 17621512 17621512 exon 36 0.4 ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACACAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG mutant NA NA NA NA NA 54 39 1 0.995922957245705 0.997961478622852 1 0.997844830187435 0.989080934830087 0.983847829859594 NA NA 0.0109190651699131 0.0120751273861107 0.998922415093717 0.98646438234484 NA 0.0114970962780119 NA FALSE NA 0.003 -1.251 . upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs200463426 1 NA GCG C,T 8.237e-06 20:17621512 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003749257 synonymous_variant 1.979206 0.84354 0.15374 0.706548 0.48655608139235 0 0.000136331977393793 FALSE NA ENSE00000859228_025 ENSE00000859228 025 20 17602068 17602237 - 35 90 45 G A 17602184 409 54 ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCTTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG 17621422 17621592 17621538 17621539 17621539 exon 9 0.1 ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCTTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG mutant NA NA NA NA NA 75 459 1 0.999655286041236 0.999827643020618 1 0.997844830187435 0.989080934830087 0.983847829859594 NA NA 0.0109190651699131 0.0158074561816423 0.998922415093717 0.98646438234484 NA 0.0133632606757777 NA FALSE NA 0.415 -0.439 rs184204707 upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs184204707 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGG G,A 8.237e-06 20:17621539 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003749257 synonymous_variant 1.364846 0.84798 0.43794 0.706548 0.763929046901329 0 0.000136331977393793 FALSE NA ENSE00000859228_026 ENSE00000859228 026 20 17602068 17602237 - 35 90 45 A G 17602196 410 42 CAGGGATGCCCAGCTGACAGGTTCCCAATGCTCACCGTCTCCGCCAGGATGCTGCGGTACTGGTCACACTCGGCCTGCAGTGTGCTCTGCGTCTCCTCGGCCTCCCTCAACTTGGAGGCCAGGTCCTGGGAGAGGGAAGAACAGGTGTTTAGTTAGCCACACACAAAGGT 17621422 17621592 17621550 17621551 17621551 upstr_intron -4 -0.0666666666666667 ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCCCAGGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG mutant NA NA NA NA NA 87 47 1 1 1 1 0.997844830187435 0.989080934830087 0.983847829859594 NA NA 0.0109190651699131 0.0161521701404059 0.998922415093717 0.98646438234484 NA 0.0135356176551595 NA FALSE NA 0.154 0.159 rs73898358 upstream_gene_variant MODIFIER RRBP1 HGNC 10448 ENST00000468428 rs73898358 1 G:0.0685 G:0.1793 G:0.0447 NA G:0.0139 G:0.0278 G:0.0337 G:0.1625 G:0.0307 GAG A,G 0.041 20:17621551 RRBP1 HGNC Symbol protein_coding 68617 ENSG00000125844 ENSE00003749257 splice_region_variant 0.881498 0.18994 0.53386 0.099367 0.679665253133755 0.0416838 0.000136331977393793 FALSE 0.0392326 ENSE00000859228_BRK ENSE00000859228 BRK 20 17602068 17602237 - 35 90 45 A,G; T,T NA NA NA ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCTTGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGCCGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG 17621422 17621592 NA NA NA NA NA NA ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCTTGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGCCGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG ACCTTTGTGTGTGGCTAACTAAACACCTGTTCTTCCCTCTCTCAGGACCTGGCCTCCAAGTTGAGGGAGGCCGAGGAGACGCAGAGCACACTGCAGGCCGAGTGTGACCAGTACCGCAGCATCCTGGCGGAGACGGTGAGCATTGGGAACCTGTCAGCTGGGCATCCCTG control NA NA NA NA NA 57 308 0 0 0 1 0.997844830187435 0.989080934830087 0.983847829859594 NA NA -0.989080934830087 -0.983847829859594 0.998922415093717 0.98646438234484 NA -0.98646438234484 NA TRUE NA NA NA NA NA NA RRBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRBP1 NA NA NA ENSG00000125844 ENSE00003749257 NA NA NA NA NA NA NA 0.000136331977393793 FALSE NA ENSE00000859325_000 ENSE00000859325 000 20 18513258 18513427 + 50 81 39 NA NA NA NA NA GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 NA NA NA NA NA NA GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG natural 73 69 0.984080822454319 0.973588929884054 0.978834876169187 1285 1352 0.983119545165325 0.98824062505809 0.985680085111707 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 0 0 0 0 0.978834876169187 0.985680085111707 0 0 0 FALSE FALSE NA NA NA NA NA SEC23B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC23B NA NA NA ENSG00000101310 ENSE00000859325 NA NA NA NA NA NA NA 6.85928695809641e-14 FALSE NA ENSE00000859325_003 ENSE00000859325 003 20 18513258 18513427 + 50 81 39 C T 18513288 464 31 GGGTGGATTGAAGTGATCTTTAACTTTACATTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532643 18532644 18532644 upstr_intron -20 -0.38 GGGTGGATTGAAGTGATCTTTAACTTTACATTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 334 522 0.995221705063909 0.998898859909862 0.997060282486885 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.0121021598985848 0.0106582348517718 0.978834876169187 0.985680085111707 NA 0.0113801973751783 NA FALSE NA 0 -0.578 . intron_variant MODIFIER SEC23B HGNC 10702 ENST00000377475 10/19 1 NA ACT C,T 8.236e-06 20:18532644 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 intron_variant -0.054858 0.1757 0.01263 0.156188 0.424663073562387 0.0518458 6.85928695809641e-14 FALSE 4.0626e-06 ENSE00000859325_004 ENSE00000859325 004 20 18513258 18513427 + 50 81 39 C A 18513292 465 35 CGGGGCAGGAGGTGAGGGTGATGGAGTTGTTTTCCTTACATTTTCTGACACACACGGTCCTTTCACATTCAGAGATACGCATGGACCAATGGCTCCTGCAATCTTCAGTTCCCGAGAGGTCTATAACAAATATGTTACAGTGTAAAGTTAAAGATCACTTCAATCCACCC 18532613 18532783 18532647 18532648 18532648 upstr_intron -16 -0.3 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTAACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 369 94 0.965793192709241 0.987325064684276 0.976559128696759 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.0173263524560839 -0.000915560373813573 0.978834876169187 0.985680085111707 NA -0.00912095641494876 NA FALSE NA 0 -0.569 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:18532648 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 intron_variant -0.074641 0.14906 0.08408 0.156188 0.37029355528854 0.0518458 6.85928695809641e-14 FALSE 2.4375e-05 ENSE00000859325_005 ENSE00000859325 005 20 18513258 18513427 + 50 81 39 C G 18513292 466 35 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTGACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532647 18532648 18532648 upstr_intron -16 -0.3 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTGACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 404 121 0.974198505627442 0.9636991166213 0.968948811124371 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.00892103953788237 -0.0245415084367895 0.978834876169187 0.985680085111707 NA -0.0167312739873359 NA FALSE NA 0 -0.569 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC23B NA NA NA ENSG00000101310 ENSE00000859325 intron_variant -0.205444 0.16267 0.04795 0.156188 0.318265767770027 0.0518458 6.85928695809641e-14 FALSE 4.0625e-06 ENSE00000859325_006 ENSE00000859325 006 20 18513258 18513427 + 50 81 39 A C 18513295 467 38 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACCTATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532650 18532651 18532651 upstr_intron -13 -0.24 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACCTATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 126 930 0.991887892234182 0.99855476843717 0.995221330335676 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.00876834706885721 0.0103141433790804 0.978834876169187 0.985680085111707 NA 0.00954124522396882 NA FALSE NA 0 -1.807 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:18532651 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 intron_variant -0.609327 0.19093 0.04532 0.295142 0.492913084711766 0.0526402 6.85928695809641e-14 FALSE 1.21869e-05 ENSE00000859325_007 ENSE00000859325 007 20 18513258 18513427 + 50 81 39 A T 18513295 468 38 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACTTATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532650 18532651 18532651 upstr_intron -13 -0.24 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACTTATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 502 864 1 1 1 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.0168804548346755 0.01175937494191 0.978834876169187 0.985680085111707 NA 0.0143199148882928 NA FALSE NA 0 -1.807 NA NA NA SEC23B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC23B NA NA NA ENSG00000101310 ENSE00000859325 intron_variant -0.56416 0.17798 0.02604 0.295142 0.491485023644212 0.0526402 6.85928695809641e-14 FALSE 4.0623e-06 ENSE00000859325_008 ENSE00000859325 008 20 18513258 18513427 + 50 81 39 A G 18513297 469 40 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATGTTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532652 18532653 18532653 upstr_intron -11 -0.2 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATGTTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 625 90 0.808479519402359 1 0.90423975970118 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.174640025762966 0.01175937494191 0.978834876169187 0.985680085111707 NA -0.0814403254105278 NA FALSE NA 0.809 1.249 rs187699090 intron_variant MODIFIER SEC23B HGNC 10702 ENST00000377475 10/19 rs187699090 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TAT A,G 8.236e-06 20:18532653 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 intron_variant 0.540236 0.236 0.45998 0.295142 0.70316820362429 0.0526402 6.85928695809641e-14 FALSE 5.28112e-05 ENSE00000859325_010 ENSE00000859325 010 20 18513258 18513427 + 50 81 39 T C 18513305 471 48 CGGGGCAGGAGGTGAGGGTGATGGAGTTGTTTTCCTTACATTTTCTGACACACACGGTCCTTTCACATTCAGAGATACGCATGGACCAATGGCTCCTGCAATCTTCAGTTCCCGAGAGGTCTGTAACAAATATGTGACAGTGTAAAGTTAAAGATCACTTCAATCCACCC 18532613 18532783 18532660 18532661 18532661 upstr_intron -3 -0.04 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTACAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 236 367 0.980612955273657 0.999896235872167 0.990254595572912 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.00250658989166708 0.0116556108140774 0.978834876169187 0.985680085111707 NA 0.00457451046120516 NA FALSE NA 0.254 0.32 NA NA NA SEC23B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:18532661 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 splice_region_variant 1.013039 0.27919 0.48533 0.295142 0.687480565945948 0.338209 6.85928695809641e-14 FALSE 1.21865e-05 ENSE00000859325_011 ENSE00000859325 011 20 18513258 18513427 + 50 81 39 C T 18513314 472 57 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTTGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532669 18532670 18532670 exon 7 0.0864197530864197 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTTGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 884 255 0.901143461180602 0.914865463391987 0.908004462286295 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.0819760839847222 -0.0733751616661026 0.978834876169187 0.985680085111707 NA -0.0776756228254124 NA FALSE NA 0.997 3.142 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 11/20 1 deleterious(0) probably_damaging(0.932) NA TCG C,T 3.295e-05 20:18532670 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 missense_variant 7.489456 0.97155 0.95795 0.706548 0.99923140998636 0 6.85928695809641e-14 FALSE 1.62484e-05 ENSE00000859325_012 ENSE00000859325 012 20 18513258 18513427 + 50 81 39 G A 18513315 473 58 CGGGGCAGGAGGTGAGGGTGATGGAGTTGTTTTCCTTACATTTTCTGACACACACGGTCCTTTCACATTCAGAGATACGCATGGACCAATGGCTCCTGCAATCTTCAGTTCCTGAGAGGTCTATAACAAATATGTGACAGTGTAAAGTTAAAGATCACTTCAATCCACCC 18532613 18532783 18532670 18532671 18532671 exon 8 0.0987654320987654 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCAGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 49 164 0.927905249943585 0.95 0.938952624971792 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.0552142952217398 -0.03824062505809 0.978834876169187 0.985680085111707 NA -0.0467274601399149 NA FALSE NA 1 9.018 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 11/20 COSM3544434 1 deleterious(0.05) benign(0.087) NA CGG G,A 1.647e-05 20:18532671 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 missense_variant 4.980784 0.9929 0.99688 0.706548 0.999547381698596 0 6.85928695809641e-14 FALSE 8.12466e-06 ENSE00000859325_013 ENSE00000859325 013 20 18513258 18513427 + 50 81 39 A C 18513319 474 62 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGACCTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532674 18532675 18532675 exon 12 0.148148148148148 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGACCTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 267 1107 1 0.998996754790353 0.999498377395176 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.0168804548346755 0.0107561297322628 0.978834876169187 0.985680085111707 NA 0.0138182922834691 NA FALSE NA 0.034 0.048 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 11/20 1 tolerated(0.49) benign(0.104) NA AAC A,C 8.236e-06 20:18532675 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 missense_variant 1.573788 0.9443 0.79004 0.706548 0.992732776181852 0 6.85928695809641e-14 FALSE 8.12381e-06 ENSE00000859325_015 ENSE00000859325 015 20 18513258 18513427 + 50 81 39 T G 18513328 476 71 CGGGGCAGGAGGTGAGGGTGATGGAGTTGTTTTCCTTACATTTTCTGACACACACGGTCCTTTCACATTCAGAGATACGCATGGACCAATGGCTCCTGCCATCTTCAGTTCCCGAGAGGTCTATAACAAATATGTGACAGTGTAAAGTTAAAGATCACTTCAATCCACCC 18532613 18532783 18532683 18532684 18532684 exon 21 0.259259259259259 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATGGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 72 758 0.950841218141479 0.945878385890023 0.948359802015751 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.0322783270238457 -0.0423622391680668 0.978834876169187 0.985680085111707 NA -0.0373202830959563 NA FALSE NA 0.989 0.151 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:18532684 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 missense_variant 4.383109 0.96719 0.94573 0.706548 0.995880376553163 0 6.85928695809641e-14 FALSE 8.12407e-06 ENSE00000859325_016 ENSE00000859325 016 20 18513258 18513427 + 50 81 39 T A 18513328 477 71 CGGGGCAGGAGGTGAGGGTGATGGAGTTGTTTTCCTTACATTTTCTGACACACACGGTCCTTTCACATTCAGAGATACGCATGGACCAATGGCTCCTGCTATCTTCAGTTCCCGAGAGGTCTATAACAAATATGTGACAGTGTAAAGTTAAAGATCACTTCAATCCACCC 18532613 18532783 18532683 18532684 18532684 exon 21 0.259259259259259 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATAGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 2000 448 0.952164024446366 0.938285916594039 0.945224970520202 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.0309555207189588 -0.0499547084640507 0.978834876169187 0.985680085111707 NA -0.0404551145915047 NA FALSE NA 0.989 0.151 NA NA NA SEC23B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC23B NA NA NA ENSG00000101310 ENSE00000859325 synonymous_variant 1.741457 0.966 0.94283 0.706548 0.768072406287073 0 6.85928695809641e-14 FALSE 4.06204e-06 ENSE00000859325_017 ENSE00000859325 017 20 18513258 18513427 + 50 81 39 G A 18513329 478 72 CGGGGCAGGAGGTGAGGGTGATGGAGTTGTTTTCCTTACATTTTCTGACACACACGGTCCTTTCACATTCAGAGATACGCATGGACCAATGGCTCCTGTAATCTTCAGTTCCCGAGAGGTCTATAACAAATATGTGACAGTGTAAAGTTAAAGATCACTTCAATCCACCC 18532613 18532783 18532684 18532685 18532685 exon 22 0.271604938271605 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTACAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 288 90 0.995231404539901 0.978934511329227 0.987082957934564 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.0121118593745763 -0.00930611372886292 0.978834876169187 0.985680085111707 NA 0.00140287282285667 NA FALSE NA 0.996 1.83 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 11/20 1 tolerated(0.87) benign(0.026) NA TGC G,A 2.471e-05 20:18532685 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 missense_variant 1.671878 0.97685 0.96495 0.706548 0.347038024724455 0 6.85928695809641e-14 FALSE 2.84349e-05 ENSE00000859325_018 ENSE00000859325 018 20 18513258 18513427 + 50 81 39 A G 18513338 479 81 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCGTTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532693 18532694 18532694 exon 31 0.382716049382716 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCGTTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 101 496 1 1 1 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.0168804548346755 0.01175937494191 0.978834876169187 0.985680085111707 NA 0.0143199148882928 NA FALSE NA 1 6.758 . missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 11/20 1 deleterious(0.04) benign(0.277) NA CAT A,G 8.236e-06 20:18532694 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 missense_variant 3.71014 0.98514 0.99357 0.706548 0.998954885665607 0 6.85928695809641e-14 FALSE 8.12447e-06 ENSE00000859325_019 ENSE00000859325 019 20 18513258 18513427 + 50 81 39 C T 18513349 480 92 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGTGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532704 18532705 18532705 exon -40 0.518518518518518 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGTGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 14 143 1 0.990406730028462 0.995203365014231 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.0168804548346755 0.00216610497037206 0.978834876169187 0.985680085111707 NA 0.00952327990252377 NA FALSE NA 0.066 -1.109 . synonymous_variant LOW SEC23B HGNC 10702 ENST00000377475 11/20 1 NA GCG C,T 1.647e-05 20:18532705 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 synonymous_variant 2.164499 0.926 0.02896 0.706548 0.518517270220783 0 6.85928695809641e-14 FALSE 1.62487e-05 ENSE00000859325_020 ENSE00000859325 020 20 18513258 18513427 + 50 81 39 G A 18513350 481 93 CGGGGCAGGAGGTGAGGGTGATGGAGTTGTTTTCCTTACATTTTCTGACACACACGGTCCTTTCACATTCAGAGATATGCATGGACCAATGGCTCCTGCAATCTTCAGTTCCCGAGAGGTCTATAACAAATATGTGACAGTGTAAAGTTAAAGATCACTTCAATCCACCC 18532613 18532783 18532705 18532706 18532706 exon -39 0.530864197530864 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCATATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 530 52 0.808291587098083 0.8 0.804145793549042 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.174827958067241 -0.18824062505809 0.978834876169187 0.985680085111707 NA -0.181534291562665 NA FALSE NA 0.997 2.775 rs41309927 missense_variant MODERATE SEC23B HGNC 10702 ENST00000377475 11/20 rs41309927&CM094615 1 tolerated(0.5) benign(0.005) A:0.0166 A:0.0008 A:0.0231 NA A:0 A:0.0487 A:0.0174 A:0.0089 A:0.0612 CGT G,A 0.043 20:18532706 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 missense_variant 2.503924 0.97097 0.95675 0.706548 0.966975663435987 0 6.85928695809641e-14 FALSE 0.0431817 ENSE00000859325_022 ENSE00000859325 022 20 18513258 18513427 + 50 81 39 G A 18513373 483 116 CGGGGCAGGAGGTGAGGGTGATGGAGTTGTTTTCCTTACATTTTCTGACACACATGGTCCTTTCACATTCAGAGATACGCATGGACCAATGGCTCCTGCAATCTTCAGTTCCCGAGAGGTCTATAACAAATATGTGACAGTGTAAAGTTAAAGATCACTTCAATCCACCC 18532613 18532783 18532728 18532729 18532729 exon -16 0.814814814814815 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCATGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 868 177 0.918572740200558 0.948482048318931 0.933527394259745 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.0645468049647663 -0.0397585767391589 0.978834876169187 0.985680085111707 NA -0.0521526908519626 NA FALSE NA 0 -3.82 . synonymous_variant LOW SEC23B HGNC 10702 ENST00000377475 11/20 COSM238148 1 NA CGT G,A 8.236e-06 20:18532729 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 synonymous_variant 1.67275 0.18068 0.03385 0.706548 0.708705289655749 0 6.85928695809641e-14 FALSE 1.62475e-05 ENSE00000859325_023 ENSE00000859325 023 20 18513258 18513427 + 50 81 39 C T 18513404 484 147 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTTCATCACCCTCACCTCCTGCCCCG 18532613 18532783 18532759 18532760 18532760 downstr_intron 16 1.42105263157895 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTTCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 165 208 0.972375394232572 0.971787303552184 0.972081348892378 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.0107441509327523 -0.0164533215059061 0.978834876169187 0.985680085111707 NA -0.0135987362193292 NA FALSE NA 0 -2.232 . intron_variant MODIFIER SEC23B HGNC 10702 ENST00000377475 11/19 rs557848420 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 TCC C,T 7.413e-05 20:18532760 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 intron_variant 0.15299 0.18104 0.00424 0.099367 0.584059442981279 0.0546611 6.85928695809641e-14 FALSE 7.31416e-05 ENSE00000859325_025 ENSE00000859325 025 20 18513258 18513427 + 50 81 39 C G 18513414 486 157 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTGACCTCCTGCCCCG 18532613 18532783 18532769 18532770 18532770 downstr_intron 26 1.68421052631579 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTGACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 185 424 0.97296192124634 0.999820285013822 0.986391103130081 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.0101576239189849 0.0115796599557323 0.978834876169187 0.985680085111707 NA 0.000711018018373699 NA FALSE NA 0 -0.036 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:18532770 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 intron_variant 0.075744 0.14161 0.06238 0.099367 0.414691704769507 0.0540496 6.85928695809641e-14 FALSE 4.07e-06 ENSE00000859325_026 ENSE00000859325 026 20 18513258 18513427 + 50 81 39 C T 18513414 487 157 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTTACCTCCTGCCCCG 18532613 18532783 18532769 18532770 18532770 downstr_intron 26 1.68421052631579 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTTACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 1135 1360 0.99556605066354 0.992897017566842 0.994231534115191 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.0124465054982151 0.00465639250875194 0.978834876169187 0.985680085111707 NA 0.00855144900348354 NA FALSE NA 0 -0.036 NA NA NA SEC23B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC23B NA NA NA ENSG00000101310 ENSE00000859325 intron_variant 0.265332 0.13871 0.03058 0.099367 0.637005061971474 0.0540496 6.85928695809641e-14 FALSE 4.07e-06 ENSE00000859325_027 ENSE00000859325 027 20 18513258 18513427 + 50 81 39 C T 18513416 488 159 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCATCTCCTGCCCCG 18532613 18532783 18532771 18532772 18532772 downstr_intron 28 1.73684210526316 GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCATCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG mutant NA NA NA NA NA 560 94 0.991380346423465 0.998313782914738 0.994847064669101 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA 0.00826080125813999 0.0100731578566481 0.978834876169187 0.985680085111707 NA 0.00916697955739404 NA FALSE NA 0 -1.541 . intron_variant MODIFIER SEC23B HGNC 10702 ENST00000377475 11/19 rs576409968 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 ACC C,T 8.237e-05 20:18532772 SEC23B HGNC Symbol protein_coding 53933 ENSG00000101310 ENSE00000859325 intron_variant -0.150518 0.12658 0.0161 0.099367 0.716393477695992 0.0540496 6.85928695809641e-14 FALSE 4.88703e-05 ENSE00000859325_BRK ENSE00000859325 BRK 20 18513258 18513427 + 50 81 39 A,G; T,T NA NA NA GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATTTACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATCCAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG 18532613 18532783 NA NA NA NA NA NA GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATTTACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATCCAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG GGGTGGATTGAAGTGATCTTTAACTTTACACTGTCACATATTTGTTATAGACCTCTCGGGAACTGAAGATTGCAGGAGCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAATGTAAGGAAAACAACTCCATCACCCTCACCTCCTGCCCCG control NA NA NA NA NA 1035 208 0.00291415070322881 0 0.00145707535161441 0.984080822454319 0.973588929884054 0.983119545165325 0.98824062505809 NA NA -0.980205394462096 -0.98824062505809 0.978834876169187 0.985680085111707 NA -0.984223009760093 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC23B NA NA NA ENSG00000101310 ENSE00000859325 NA NA NA NA NA NA NA 6.85928695809641e-14 FALSE NA ENSE00000859844_000 ENSE00000859844 000 20 30115246 30115415 + 41 99 30 NA NA NA NA NA AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 NA NA NA NA NA NA AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT natural 275 327 0.994134653714828 0.982877481264629 0.988506067489729 8323 8574 0.974950678364888 0.965928499720513 0.9704395890427 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 0 0 0 0 0.988506067489729 0.9704395890427 0 0 0 FALSE FALSE NA NA NA NA NA HM13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HM13 NA NA NA ENSG00000101294 ENSE00003647732 NA NA NA NA NA NA NA 0.882288325132847 FALSE NA ENSE00000859844_001 ENSE00000859844 001 20 30115246 30115415 + 41 99 30 G A 30115259 631 14 AACCAGCCGTGCTAAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527455 31527456 31527456 upstr_intron -28 -0.658536585365854 AACCAGCCGTGCTAAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 1218 800 0.99402059608626 0.998608396675649 0.996314496380954 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.0190699177213721 0.0326798969551363 0.988506067489729 0.9704395890427 NA 0.0258749073382542 NA FALSE NA 0 -2.256 . intron_variant MODIFIER HM13 HGNC 16435 ENST00000344042 1/8 1 NA TGA G,A 1.647e-05 20:31527456 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 intron_variant -0.107081 0.11561 0.01046 0.295142 0.668071297134838 0.0489468 0.882288325132847 FALSE 4.10135e-06 ENSE00000859844_002 ENSE00000859844 002 20 30115246 30115415 + 41 99 30 C G 30115283 632 38 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTGTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527479 31527480 31527480 upstr_intron -4 -0.0731707317073171 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTGTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 782 1393 0.907714084932132 0.988014969987333 0.947864527459732 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA -0.0672365934327557 0.02208647026682 0.988506067489729 0.9704395890427 NA -0.0225750615829678 NA FALSE NA 0 0.475 . splice_region_variant&intron_variant LOW HM13 HGNC 16435 ENST00000344042 1/8 rs575734397 1 G:0.0008 G:0 G:0 NA G:0 G:0 G:0.0041 TCT C,G 0.0001318 20:31527480 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 splice_region_variant 1.754653 0.23001 0.19637 0.295142 0.696851581829001 0.227858 0.882288325132847 FALSE 9.76094e-05 ENSE00000859844_003 ENSE00000859844 003 20 30115246 30115415 + 41 99 30 A G 30115287 633 42 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGGATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527483 31527484 31527484 exon 1 0.0101010101010101 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGGATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 1506 591 0.999039634109453 0.978534415501359 0.988787024805406 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.0240889557445654 0.0126059157808466 0.988506067489729 0.9704395890427 NA 0.018347435762706 NA FALSE NA 1 6.297 . missense_variant&splice_region_variant MODERATE HM13 HGNC 16435 ENST00000344042 2/9 rs368138547 1 tolerated(0.34) benign(0.197) NA G:0.0002 G:0 GAA A,G 8.236e-06 20:31527484 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 missense_variant 2.560764 0.98526 0.96153 0.719381 0.992348920789433 0 0.882288325132847 FALSE 4.06706e-06 ENSE00000859844_004 ENSE00000859844 004 20 30115246 30115415 + 41 99 30 G T 30115301 634 56 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATTCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527497 31527498 31527498 exon 15 0.151515151515152 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATTCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 357 1536 0.999653659413853 0.999897022704698 0.999775341059276 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.0247029810489653 0.0339685229841856 0.988506067489729 0.9704395890427 NA 0.0293357520165755 NA FALSE NA 1 4.528 . missense_variant MODERATE HM13 HGNC 16435 ENST00000344042 2/9 1 tolerated(0.34) benign(0.007) NA TGC G,T 8.236e-06 20:31527498 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 missense_variant 3.133076 0.98501 0.95367 0.719381 0.982486383801395 0 0.882288325132847 FALSE 4.06279e-06 ENSE00000859844_005 ENSE00000859844 005 20 30115246 30115415 + 41 99 30 A G 30115308 635 63 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAGCAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527504 31527505 31527505 exon 22 0.222222222222222 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAGCAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 724 702 1 0.999674064064685 0.999837032032343 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.025049321635112 0.0337455643441729 0.988506067489729 0.9704395890427 NA 0.0293974429896424 NA FALSE NA 1 8.067 . missense_variant MODERATE HM13 HGNC 16435 ENST00000344042 2/9 1 deleterious(0.01) possibly_damaging(0.511) NA AAC A,G 8.236e-06 20:31527505 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 missense_variant 3.050767 0.99106 0.98231 0.719381 0.995933500488978 0 0.882288325132847 FALSE 4.06263e-06 ENSE00000859844_006 ENSE00000859844 006 20 30115246 30115415 + 41 99 30 C G 30115316 636 71 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACGAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527512 31527513 31527513 exon 30 0.303030303030303 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACGAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 778 681 1 0.993741357481908 0.996870678740954 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.025049321635112 0.0278128577613956 0.988506067489729 0.9704395890427 NA 0.0264310896982538 NA FALSE NA 1 3.917 . synonymous_variant LOW HM13 HGNC 16435 ENST00000344042 2/9 1 NA CCA C,G 8.236e-06 20:31527513 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 synonymous_variant 1.651164 0.98492 0.95523 0.719381 0.661568390329322 0 0.882288325132847 FALSE 4.0624e-06 ENSE00000859844_007 ENSE00000859844 007 20 30115246 30115415 + 41 99 30 G A 30115321 637 76 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCAGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527517 31527518 31527518 exon 35 0.353535353535354 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCAGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 313 844 0.992072017330623 1 0.996036008665312 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.017121338965735 0.0340715002794875 0.988506067489729 0.9704395890427 NA 0.0255964196226112 NA FALSE NA 1 8.53 . missense_variant MODERATE HM13 HGNC 16435 ENST00000344042 2/9 1 deleterious(0.03) possibly_damaging(0.71) NA CGG G,A 2.471e-05 20:31527518 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 missense_variant 4.783092 0.99325 0.98522 0.719381 0.999060538203294 0 0.882288325132847 FALSE 2.03123e-05 ENSE00000859844_009 ENSE00000859844 009 20 30115246 30115415 + 41 99 30 G A 30115329 639 84 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCACCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527525 31527526 31527526 exon 43 0.434343434343434 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCACCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 534 1646 0.99702155950871 0.99534784082717 0.99618470016794 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.0220708811438217 0.0294193411066574 0.988506067489729 0.9704395890427 NA 0.0257451111252396 NA FALSE NA 1 8.53 . missense_variant MODERATE HM13 HGNC 16435 ENST00000344042 2/9 COSM4097399&COSM4097398 1 tolerated(0.05) probably_damaging(0.924) NA CGC G,A 8.236e-06 20:31527526 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 missense_variant 5.602402 0.99325 0.98522 0.719381 0.999080174205996 0 0.882288325132847 FALSE 8.12625e-06 ENSE00000859844_010 ENSE00000859844 010 20 30115246 30115415 + 41 99 30 A G 30115341 640 96 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCGTCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527537 31527538 31527538 exon -45 0.555555555555556 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCGTCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 1453 132 0.996198278141201 0.997955952021759 0.99707711508148 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.0212475997763129 0.0320274523012468 0.988506067489729 0.9704395890427 NA 0.0266375260387798 NA FALSE NA 1 8.067 . missense_variant MODERATE HM13 HGNC 16435 ENST00000344042 2/9 1 tolerated(0.26) benign(0.046) NA CAT A,G 2.471e-05 20:31527538 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 missense_variant 2.302111 0.99105 0.98231 0.706548 0.996960151297599 0 0.882288325132847 FALSE 3.24952e-05 ENSE00000859844_011 ENSE00000859844 011 20 30115246 30115415 + 41 99 30 C A 30115343 641 98 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATAATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527539 31527540 31527540 exon -43 0.575757575757576 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATAATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 1326 1227 0.999002600910091 0.928309616347894 0.963656108628993 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.0240519225452033 -0.0376188833726183 0.988506067489729 0.9704395890427 NA -0.00678348041370752 NA FALSE NA 1 3.854 . synonymous_variant LOW HM13 HGNC 16435 ENST00000344042 2/9 1 NA TCA C,A 8.236e-06 20:31527540 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 synonymous_variant 2.86607 0.98908 0.93724 0.706548 0.82483044778129 0 0.882288325132847 FALSE 4.0619e-06 ENSE00000859844_012 ENSE00000859844 012 20 30115246 30115415 + 41 99 30 C T 30115346 642 101 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATTGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527542 31527543 31527543 exon -40 0.606060606060606 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATTGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 325 674 1 0.994935629272913 0.997467814636456 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.025049321635112 0.0290071295524 0.988506067489729 0.9704395890427 NA 0.027028225593756 NA FALSE NA 0.568 -0.065 . synonymous_variant LOW HM13 HGNC 16435 ENST00000344042 2/9 rs372206827 1 NA T:0 T:0.0001 TCG C,T 3.295e-05 20:31527543 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 synonymous_variant 2.430934 0.96301 0.53228 0.706548 0.798928300344471 0 0.882288325132847 FALSE 1.62488e-05 ENSE00000859844_013 ENSE00000859844 013 20 30115246 30115415 + 41 99 30 A G 30115356 643 111 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCGCACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527552 31527553 31527553 exon -30 0.707070707070707 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCGCACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 1501 380 0.94056474601781 0.994830055484501 0.967697400751156 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA -0.0343859323470775 0.0289015557639881 0.988506067489729 0.9704395890427 NA -0.00274218829154471 NA FALSE NA 1 6.32 . missense_variant MODERATE HM13 HGNC 16435 ENST00000344042 2/9 1 tolerated(0.69) benign(0.067) NA CAC A,G 8.236e-06 20:31527553 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 missense_variant 1.107497 0.9857 0.96828 0.706548 0.790225123332022 0 0.882288325132847 FALSE 2.03125e-05 ENSE00000859844_014 ENSE00000859844 014 20 30115246 30115415 + 41 99 30 A G 30115358 644 113 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACGCTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527554 31527555 31527555 exon -28 0.727272727272727 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACGCTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 1016 490 0.920073884529167 0.992858997729431 0.956466441129299 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA -0.0548767938357209 0.0269304980089188 0.988506067489729 0.9704395890427 NA -0.013973147913401 NA FALSE NA 0.001 -1.956 rs145658704 synonymous_variant LOW HM13 HGNC 16435 ENST00000344042 2/9 rs145658704 1 NA G:0 G:0.0002 CAC A,G 0.0001071 20:31527555 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 synonymous_variant 0.011607 0.14846 0.02955 0.706548 0.548846334637009 0 0.882288325132847 FALSE 0.000121958 ENSE00000859844_015 ENSE00000859844 015 20 30115246 30115415 + 41 99 30 G T 30115364 645 119 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTTGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527560 31527561 31527561 exon -22 0.787878787878788 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTTGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 929 412 1 0.991057615464754 0.995528807732377 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.025049321635112 0.0251291157442415 0.988506067489729 0.9704395890427 NA 0.0250892186896767 NA FALSE NA 1 0.577 . missense_variant MODERATE HM13 HGNC 16435 ENST00000344042 2/9 1 tolerated(1) benign(0.03) NA TGG G,T 8.236e-06 20:31527561 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 missense_variant 1.151908 0.97177 0.66278 0.706548 0.361551744704636 0 0.882288325132847 FALSE 4.06825e-06 ENSE00000859844_017 ENSE00000859844 017 20 30115246 30115415 + 41 99 30 C A 30115373 647 128 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTAACTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527569 31527570 31527570 exon -13 0.878787878787879 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTAACTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 97 614 1 0.902802689576337 0.951401344788169 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.025049321635112 -0.0631258101441755 0.988506067489729 0.9704395890427 NA -0.0190382442545318 NA FALSE NA 1 3.156 . stop_gained HIGH HM13 HGNC 16435 ENST00000344042 2/9 1 NA HC ACC C,A 8.236e-06 20:31527570 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 stop_gained 12.040056 0.98519 0.94233 0.706548 0.997004294775892 0 0.882288325132847 FALSE 4.09524e-06 ENSE00000859844_018 ENSE00000859844 018 20 30115246 30115415 + 41 99 30 T C 30115391 648 146 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGCCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527587 31527588 31527588 downstr_intron 6 1.20689655172414 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGCCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 847 853 0.996158532014743 0.822256661632232 0.909207596823487 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.0212078536498546 -0.143671838088281 0.988506067489729 0.9704395890427 NA -0.0612319922192132 NA FALSE NA 0.859 0.968 . splice_region_variant&intron_variant LOW HM13 HGNC 16435 ENST00000344042 2/8 1 NA GTC T,C 8.236e-06 20:31527588 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 splice_region_variant 1.744822 0.98406 0.47998 0.099367 0.963874694995662 0.95692 0.882288325132847 FALSE 4.11299e-06 ENSE00000859844_019 ENSE00000859844 019 20 30115246 30115415 + 41 99 30 T C 30115394 649 149 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTCTTGCCACCTGTTGTGTCATTT 31527442 31527612 31527590 31527591 31527591 downstr_intron 9 1.31034482758621 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTCTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 3050 491 0.99994601599785 0.980576886134891 0.990261451066371 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA 0.0249953376329622 0.0146483864143783 0.988506067489729 0.9704395890427 NA 0.0198218620236703 NA FALSE NA 0.002 1.212 . intron_variant MODIFIER HM13 HGNC 16435 ENST00000344042 2/8 1 NA TTT T,C 1.647e-05 20:31527591 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 intron_variant 1.608853 0.25273 0.10586 0.099367 0.698100685340514 0.148568 0.882288325132847 FALSE 2.05961e-05 ENSE00000859844_020 ENSE00000859844 020 20 30115246 30115415 + 41 99 30 C T 30115399 650 154 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCTACCTGTTGTGTCATTT 31527442 31527612 31527595 31527596 31527596 downstr_intron 14 1.48275862068966 AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCTACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT mutant NA NA NA NA NA 2942 1360 0.97460448199158 0.996256498333494 0.985430490162537 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA -0.000346196373307794 0.0303279986129815 0.988506067489729 0.9704395890427 NA 0.0149909011198369 NA FALSE NA 0.001 0.028 . intron_variant MODIFIER HM13 HGNC 16435 ENST00000344042 2/8 1 NA CCA C,T 8.236e-06 20:31527596 HM13 HGNC Symbol protein_coding 63495 ENSG00000101294 ENSE00003647732 intron_variant 1.486918 0.19594 0.02731 0.099367 0.760174917836178 0.131045 0.882288325132847 FALSE 4.11052e-06 ENSE00000859844_BRK ENSE00000859844 BRK 20 30115246 30115415 + 41 99 30 A,G; T,T NA NA NA AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTTTAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAACCAAGTCTTTTGCCACCTGTTGTGTCATTT 31527442 31527612 NA NA NA NA NA NA AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTTTAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAACCAAGTCTTTTGCCACCTGTTGTGTCATTT AACCAGCCGTGCTGAGCCATTGTCATTCTTCTCTCCTCTAGAATGCTTCAGACATGCCTGAAACAATCACCAGCCGGGATGCCGCCCGCTTCCCCATCATCGCCAGCTGCACACTCTTGGGGCTCTACCTCTTTTTCAAAGTAAGTCTTTTGCCACCTGTTGTGTCATTT control NA NA NA NA NA 2910 1239 0.0217301095744079 0.00233243792108995 0.0120312737477489 0.994134653714828 0.982877481264629 0.974950678364888 0.965928499720513 NA NA -0.95322056879048 -0.963596061799423 0.988506067489729 0.9704395890427 NA -0.958408315294951 NA TRUE NA NA NA NA NA NA HM13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HM13 NA NA NA ENSG00000101294 ENSE00003647732 NA NA NA NA NA NA NA 0.882288325132847 FALSE NA ENSE00000860014_000 ENSE00000860014 000 20 32207278 32207447 + 45 90 35 NA NA NA NA NA GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA 33619471 33619641 NA NA NA NA NA NA GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA natural NA NA NA NA NA 1108 1397 0.988275735643248 0.979801183439396 0.984038459541322 NA NA 0.988275735643248 0.979801183439396 NA NA 0 0 NA 0.984038459541322 NA 0 NA FALSE NA NA NA NA NA NA CBFA2T2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CBFA2T2 NA NA NA ENSG00000078699 ENSE00000860014 NA NA NA NA NA NA NA 0.999355101452129 TRUE NA ENSE00000860014_005 ENSE00000860014 005 20 32207278 32207447 + 45 90 35 C G 32207325 717 48 GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAAGTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA 33619471 33619641 33619518 33619519 33619519 exon 3 0.0333333333333333 GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAAGTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA mutant NA NA NA NA NA 83 373 0.993893933465375 0.996453816837285 0.99517387515133 NA NA 0.988275735643248 0.979801183439396 NA NA 0.00561819782212636 0.0166526333978885 NA 0.984038459541322 NA 0.0111354156100074 NA FALSE NA 0.411 -0.264 . missense_variant&splice_region_variant MODERATE CBFA2T2 HGNC 1536 ENST00000397798 5/7 1 deleterious(0.02) benign(0.078) NA ACT C,G 8.237e-06 20:33619519 CBFA2T2 HGNC Symbol protein_coding 159961 ENSG00000078699 ENSE00000860014 missense_variant 5.314819 0.97645 0.81588 0.706298 0.997931759114985 0 0.999355101452129 TRUE 4.38147e-06 ENSE00000860014_010 ENSE00000860014 010 20 32207278 32207447 + 45 90 35 G A 32207368 722 91 GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAACCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA 33619471 33619641 33619561 33619562 33619562 exon -45 0.511111111111111 GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAACCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA mutant NA NA NA NA NA 90 427 1 1 1 NA NA 0.988275735643248 0.979801183439396 NA NA 0.0117242643567516 0.0201988165606037 NA 0.984038459541322 NA 0.0159615404586776 NA FALSE NA 1 9.4 . missense_variant MODERATE CBFA2T2 HGNC 1536 ENST00000397798 5/7 1 deleterious(0.02) possibly_damaging(0.866) NA AGC G,A 8.236e-06 20:33619562 CBFA2T2 HGNC Symbol protein_coding 159961 ENSG00000078699 ENSE00000860014 missense_variant 6.807573 0.99486 0.99412 0.706298 0.999248750763326 0 0.999355101452129 TRUE 4.11926e-06 ENSE00000860014_011 ENSE00000860014 011 20 32207278 32207447 + 45 90 35 A G 32207398 723 121 GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGGTTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA 33619471 33619641 33619591 33619592 33619592 exon -15 0.844444444444444 GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGGTTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA GGAAGTCCAGTTTTGGAAGTTGAACAAGGTTATTTATCTTTTCAGAACTCAACAGTGACAATTGAGGAATTCCACTGTAAGCTCCAAGAAGCCACAAACTTTCCCCTTCGTCCTTTTGTGATTCCATTTCTCAAGGTAATTTGATAATTACTGAATATAATTTATCTTGA mutant NA NA NA NA NA 31 229 1 0.975228805760845 0.987614402880423 NA NA 0.988275735643248 0.979801183439396 NA NA 0.0117242643567516 -0.00457237767855123 NA 0.984038459541322 NA 0.00357594333910016 NA FALSE NA 1 8.89 . missense_variant MODERATE CBFA2T2 HGNC 1536 ENST00000397798 5/7 1 tolerated(0.29) benign(0.012) NA GAT A,G 8.237e-06 20:33619592 CBFA2T2 HGNC Symbol protein_coding 159961 ENSG00000078699 ENSE00000860014 missense_variant 2.283768 0.99298 0.99406 0.706298 0.994299484684807 0 0.999355101452129 TRUE NA ENSE00000860130_000 ENSE00000860130 000 20 33231920 33232089 - 48 63 59 NA NA NA NA NA CTCTAGTACTCTTACACTTACTGTGTTCCATTTCCTATTATTTCTCTTTCTTTTGACAGATAACTGATGCACTCACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGGTAAGTAGTTTGTGGGTGGAGCAAAGCTGGTGGAATTTGGTAACCTTC 34644115 34644285 NA NA NA NA NA NA CTCTAGTACTCTTACACTTACTGTGTTCCATTTCCTATTATTTCTCTTTCTTTTGACAGATAACTGATGCACTCACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGGTAAGTAGTTTGTGGGTGGAGCAAAGCTGGTGGAATTTGGTAACCTTC CTCTAGTACTCTTACACTTACTGTGTTCCATTTCCTATTATTTCTCTTTCTTTTGACAGATAACTGATGCACTCACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGGTAAGTAGTTTGTGGGTGGAGCAAAGCTGGTGGAATTTGGTAACCTTC natural NA NA NA NA NA 669 1482 0.846382962545394 0.965170664862738 0.905776813704066 NA NA 0.846382962545394 0.965170664862738 NA NA 0 0 NA 0.905776813704066 NA 0 NA FALSE NA NA NA NA NA NA PIGU NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIGU NA NA NA ENSG00000101464 ENSE00000860130 NA NA NA NA NA NA NA 0.813069113456619 FALSE NA ENSE00000860130_009 ENSE00000860130 009 20 33231920 33232089 - 48 63 59 G T 33232046 734 44 CTCTAGTACTCTTACACTTACTGTGTTCCATTTCCTATTATTTATCTTTCTTTTGACAGATAACTGATGCACTCACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGGTAAGTAGTTTGTGGGTGGAGCAAAGCTGGTGGAATTTGGTAACCTTC 34644115 34644285 34644241 34644242 34644242 upstr_intron -16 -0.254237288135593 CTCTAGTACTCTTACACTTACTGTGTTCCATTTCCTATTATTTATCTTTCTTTTGACAGATAACTGATGCACTCACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGGTAAGTAGTTTGTGGGTGGAGCAAAGCTGGTGGAATTTGGTAACCTTC CTCTAGTACTCTTACACTTACTGTGTTCCATTTCCTATTATTTCTCTTTCTTTTGACAGATAACTGATGCACTCACTGCTATTGCCCTGTATTTTGCAATCCAGGACTTCAATAAAGTTGTGGTAAGTAGTTTGTGGGTGGAGCAAAGCTGGTGGAATTTGGTAACCTTC mutant NA NA NA NA NA 160 111 1 1 1 NA NA 0.846382962545394 0.965170664862738 NA NA 0.153617037454606 0.0348293351372625 NA 0.905776813704066 NA 0.0942231862959342 NA FALSE NA 0 -0.831 . intron_variant&non_coding_transcript_variant MODIFIER PIGU HGNC 15791 ENST00000462389 3/3 1 NA AGA G,T 8.236e-06 20:34644242 PIGU HGNC Symbol protein_coding 138248 ENSG00000101464 ENSE00000860130 intron_variant -0.462824 0.213 0.11198 0.062308 0.467844060467117 0.0873088 0.813069113456619 FALSE 4.06359e-06 ENSE00000860247_000 ENSE00000860247 000 20 34097765 34097934 + 62 57 51 NA NA NA NA NA AGGGCCTGAGTGCAAGGGAGGGAATATGGGCTTAGAAAATCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAACAGCACTCTTGTTGGCATAGGCCTTCCCACTCTGGGGTTTCTGCAAGT 35509935 35510105 NA NA NA NA NA NA ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT natural 25 15 1 1 1 2521 2832 0.954133883712375 0.945577668302687 0.949855776007531 1 1 0.954133883712375 0.945577668302687 0 0 0 0 1 0.949855776007531 0 0 0 FALSE FALSE NA NA NA NA NA CEP250 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP250 NA NA NA ENSG00000126001 ENSE00000860247 NA NA NA NA NA NA NA 8.25125524749097e-17 FALSE NA ENSE00000860247_001 ENSE00000860247 001 20 34097765 34097934 + 62 57 51 G C 34097781 783 17 AGGGCCTGAGTGCAAGGGAGGGAATATGGGCTTAGAAAATCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAACAGCACTCTTGTTGGCATAGGCCTTCCCACTGTGGGGTTTCTGCAAGT 35509935 35510105 35509951 35509952 35509952 upstr_intron -46 -0.725806451612903 ACTTGCAGAAACCCCACAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT mutant NA NA NA NA NA 33 976 1 0.999412957877744 0.999706478938872 1 1 0.954133883712375 0.945577668302687 NA NA 0.0458661162876246 0.0538352895750571 1 0.949855776007531 NA 0.0498507029313409 NA FALSE NA 0.003 1.357 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000422671 3/3 1 NA AGA G,C 1.647e-05 20:35509952 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00000860247 intron_variant -0.353055 0.1916 0.14525 0.256867 0.65093380547165 0.048454 8.25125524749097e-17 FALSE 3.24989e-05 ENSE00000860247_004 ENSE00000860247 004 20 34097765 34097934 + 62 57 51 G A 34097797 786 33 AGGGCCTGAGTGCAAGGGAGGGAATATGGGCTTAGAAAATCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAACAGCACTCTTGTTGGTATAGGCCTTCCCACTCTGGGGTTTCTGCAAGT 35509935 35510105 35509967 35509968 35509968 upstr_intron -30 -0.467741935483871 ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATACCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT mutant NA NA NA NA NA 189 108 0.999782053903321 1 0.99989102695166 1 1 0.954133883712375 0.945577668302687 NA NA 0.0456481701909451 0.0544223316973131 1 0.949855776007531 NA 0.0500352509441291 NA FALSE NA 0.003 -0.083 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000422671 3/3 rs200802667 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 TGC T,A 2.471e-05 20:35509968 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00000860247 intron_variant 0.377857 0.23403 0.05409 0.256867 0.817094146401847 0.048454 8.25125524749097e-17 FALSE 4.46686e-05 ENSE00000860247_007 ENSE00000860247 007 20 34097765 34097934 + 62 57 51 G T 34097812 789 48 AGGGCCTGAGTGCAAGGGAGGGAATATGGGCTTAGAAAATCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAAAAGCACTCTTGTTGGCATAGGCCTTCCCACTCTGGGGTTTCTGCAAGT 35509935 35510105 35509982 35509983 35509983 upstr_intron -15 -0.225806451612903 ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTTTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT mutant NA NA NA NA NA 447 96 0.998889942064942 0.998348989173095 0.998619465619018 1 1 0.954133883712375 0.945577668302687 NA NA 0.0447560583525669 0.0527713208704078 1 0.949855776007531 NA 0.0487636896114874 NA FALSE NA 0 -0.543 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000422671 3/3 1 NA TGT G,T 2.471e-05 20:35509983 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00000860247 intron_variant -0.644773 0.14664 0.02724 0.256867 0.326220261169791 0.0875277 8.25125524749097e-17 FALSE 3.65473e-05 ENSE00000860247_013 ENSE00000860247 013 20 34097765 34097934 + 62 57 51 T A 34097896 795 132 AGGGCCTGAGTGCAAGGGAGGGAATATGGGCTTAGAAATTCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAACAGCACTCTTGTTGGCATAGGCCTTCCCACTCTGGGGTTTCTGCAAGT 35509935 35510105 35510066 35510067 35510067 downstr_intron 13 1.26 ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGAATTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT mutant NA NA NA NA NA 163 208 0.988521123608571 1 0.994260561804285 1 1 0.954133883712375 0.945577668302687 NA NA 0.0343872398961954 0.0544223316973131 1 0.949855776007531 NA 0.0444047857967543 NA FALSE NA 0 0.018 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000422671 3/3 1 NA ATT T,A 8.236e-06 20:35510067 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00000860247 intron_variant 1.400787 0.1781 0.04582 0.069865 0.868105312025285 0.0708573 8.25125524749097e-17 FALSE 1.21824e-05 ENSE00000860247_014 ENSE00000860247 014 20 34097765 34097934 + 62 57 51 T C 34097916 796 152 AGGGCCTGAGTGCAAGGGGGGGAATATGGGCTTAGAAAATCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAACAGCACTCTTGTTGGCATAGGCCTTCCCACTCTGGGGTTTCTGCAAGT 35509935 35510105 35510086 35510087 35510087 downstr_intron 33 1.66 ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCCCCCTTGCACTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT mutant NA NA NA NA NA 69 136 0.995528026001924 0.998835328848205 0.997181677425065 1 1 0.954133883712375 0.945577668302687 NA NA 0.0413941422895486 0.0532576605455185 1 0.949855776007531 NA 0.0473259014175336 NA FALSE NA 0 0.071 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000422671 3/3 1 NA CTC T,C 8.236e-06 20:35510087 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00000860247 intron_variant 0.195353 0.21903 0.04244 0.069865 0.642540324879565 0.0977633 8.25125524749097e-17 FALSE 4.0621e-06 ENSE00000860247_015 ENSE00000860247 015 20 34097765 34097934 + 62 57 51 T C 34097921 797 157 AGGGCCTGAGTGCGAGGGAGGGAATATGGGCTTAGAAAATCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAACAGCACTCTTGTTGGCATAGGCCTTCCCACTCTGGGGTTTCTGCAAGT 35509935 35510105 35510091 35510092 35510092 downstr_intron 38 1.76 ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTCGCACTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT mutant NA NA NA NA NA 287 512 0.997682886215577 0.996738404936128 0.997210645575852 1 1 0.954133883712375 0.945577668302687 NA NA 0.0435490025032012 0.0511607366334408 1 0.949855776007531 NA 0.047354869568321 NA FALSE NA 0 0.103 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000422671 3/3 1 NA TTG T,C 8.236e-06 20:35510092 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00000860247 intron_variant 0.329129 0.18549 0.04108 0.069865 0.793554437582474 0.0977633 8.25125524749097e-17 FALSE NA ENSE00000860247_016 ENSE00000860247 016 20 34097765 34097934 + 62 57 51 C G 34097923 798 159 AGGGCCTGAGTCCAAGGGAGGGAATATGGGCTTAGAAAATCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAACAGCACTCTTGTTGGCATAGGCCTTCCCACTCTGGGGTTTCTGCAAGT 35509935 35510105 35510093 35510094 35510094 downstr_intron 40 1.8 ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGGACTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT mutant NA NA NA NA NA 97 393 1 0.997840729240705 0.998920364620352 1 1 0.954133883712375 0.945577668302687 NA NA 0.0458661162876246 0.0522630609380179 1 0.949855776007531 NA 0.0490645886128213 NA FALSE NA 0 -1.725 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000422671 3/3 1 NA GCA C,G 8.236e-06 20:35510094 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00000860247 intron_variant -0.04038 0.1092 0.0309 0.069865 0.632639584759596 0.0977633 8.25125524749097e-17 FALSE 4.06421e-06 ENSE00000860247_018 ENSE00000860247 018 20 34097765 34097934 + 62 57 51 A G 34097924 800 160 AGGGCCTGAGCGCAAGGGAGGGAATATGGGCTTAGAAAATCCAGAACATACCTCTTTCTGCAGTTCAGCCACACACTTGGCATCTGAGTTCTTCTGTCCTCTCCCATCCTAAGGAAGACAAACAGCACTCTTGTTGGCATAGGCCTTCCCACTCTGGGGTTTCTGCAAGT 35509935 35510105 35510094 35510095 35510095 downstr_intron 41 1.82 ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCGCTCAGGCCCT ACTTGCAGAAACCCCAGAGTGGGAAGGCCTATGCCAACAAGAGTGCTGTTTGTCTTCCTTAGGATGGGAGAGGACAGAAGAACTCAGATGCCAAGTGTGTGGCTGAACTGCAGAAAGAGGTATGTTCTGGATTTTCTAAGCCCATATTCCCTCCCTTGCACTCAGGCCCT mutant NA NA NA NA NA 1797 287 0.995026538448987 0.939441056558763 0.967233797503875 1 1 0.954133883712375 0.945577668302687 NA NA 0.0408926547366112 -0.00613661174392433 1 0.949855776007531 NA 0.0173780214963434 NA FALSE NA 0 0.638 NA NA NA CEP250 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:35510095 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00000860247 intron_variant 0.651518 0.26288 0.0886 0.069865 0.831613054320402 0.0977633 8.25125524749097e-17 FALSE 5.69032e-05 ENSE00000862428_000 ENSE00000862428 000 14 104193064 104193233 + 65 51 54 NA NA NA NA NA GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG 103726726 103726896 NA NA NA NA NA NA GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG natural 27 60 0.952564866092407 0.978367753153953 0.96546630962318 18 199 0.974644730808687 0.993402596325387 0.984023663567037 0.952564866092407 0.978367753153953 0.974644730808687 0.993402596325387 0 0 0 0 0.96546630962318 0.984023663567037 0 0 0 FALSE FALSE NA NA NA NA NA ZFYVE21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZFYVE21 NA NA NA ENSG00000100711 ENSE00003504542 NA NA NA NA NA NA NA 0.713442898007109 FALSE NA ENSE00000862428_015 ENSE00000862428 015 14 104193064 104193233 + 65 51 54 T C 104193126 1792 63 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCCAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG 103726726 103726896 103726788 103726789 103726789 upstr_intron -3 -0.0307692307692308 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCCAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG mutant 25 30 0.85 0.85 0.85 NA NA NA NA NA 0.952564866092407 0.978367753153953 0.974644730808687 0.993402596325387 -0.102564866092407 -0.128367753153953 NA NA 0.96546630962318 0.984023663567037 -0.11546630962318 NA NA NA FALSE 0.952 1.183 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ZFYVE21 HGNC 20760 ENST00000554255 1/2 rs368245977 1 NA C:0.0002 C:0 CTA T,C 8.236e-06 14:103726789 ZFYVE21 HGNC Symbol protein_coding 17938 ENSG00000100711 ENSE00003504542 splice_region_variant 0.227126 0.88366 0.43387 0.184171 0.561572407988826 0.385714 0.713442898007109 FALSE 4.06157e-06 ENSE00000862428_017 ENSE00000862428 017 14 104193064 104193233 + 65 51 54 G A 104193133 1794 70 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCAGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG 103726726 103726896 103726795 103726796 103726796 exon 5 0.0980392156862745 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCAGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG mutant 10 18 0.85 0.85 0.85 NA NA NA NA NA 0.952564866092407 0.978367753153953 0.974644730808687 0.993402596325387 -0.102564866092407 -0.128367753153953 NA NA 0.96546630962318 0.984023663567037 -0.11546630962318 NA NA NA FALSE 0.986 4.471 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZFYVE21 HGNC 20760 ENST00000554255 2/3 1 NA CGG G,A 8.236e-06 14:103726796 ZFYVE21 HGNC Symbol protein_coding 17938 ENSG00000100711 ENSE00003504542 missense_variant 2.444195 0.98674 0.9025 0.712529 0.991743499224204 0 0.713442898007109 FALSE 8.12282e-06 ENSE00000862428_018 ENSE00000862428 018 14 104193064 104193233 + 65 51 54 G C 104193136 1795 73 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGACATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG 103726726 103726896 103726798 103726799 103726799 exon 8 0.156862745098039 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGACATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG mutant 18 59 0.85 0.90076475284857 0.875382376424285 NA NA NA NA NA 0.952564866092407 0.978367753153953 0.974644730808687 0.993402596325387 -0.102564866092407 -0.077603000305383 NA NA 0.96546630962318 0.984023663567037 -0.090083933198895 NA NA NA FALSE 1 9.278 rs148966312 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZFYVE21 HGNC 20760 ENST00000554255 2/3 rs148966312 1 C:0.0008 C:0.003 C:0 NA C:0 C:0 C:0 C:0.0041 C:0 AGA G,C 0.0005107 14:103726799 ZFYVE21 HGNC Symbol protein_coding 17938 ENSG00000100711 ENSE00003504542 missense_variant 3.877065 0.99349 0.9976 0.712529 0.965931729574867 0 0.713442898007109 FALSE 0.000365491 ENSE00000862428_021 ENSE00000862428 021 14 104193064 104193233 + 65 51 54 G A 104193153 1798 90 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACACCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG 103726726 103726896 103726815 103726816 103726816 exon 25 0.490196078431373 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACACCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG mutant 12 15 0.85 0.85 0.85 NA NA NA NA NA 0.952564866092407 0.978367753153953 0.974644730808687 0.993402596325387 -0.102564866092407 -0.128367753153953 NA NA 0.96546630962318 0.984023663567037 -0.11546630962318 NA NA NA FALSE 0.923 1.842 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:103726816 ZFYVE21 HGNC Symbol protein_coding 17938 ENSG00000100711 ENSE00003504542 missense_variant 2.156047 0.71848 0.37834 0.712529 0.941048071572725 0 0.713442898007109 FALSE 8.12361e-06 ENSE00000862428_022 ENSE00000862428 022 14 104193064 104193233 + 65 51 54 G T 104193153 1799 90 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACTCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG 103726726 103726896 103726815 103726816 103726816 exon 25 0.490196078431373 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACTCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG mutant 299 307 0.85 0.85 0.85 NA NA NA NA NA 0.952564866092407 0.978367753153953 0.974644730808687 0.993402596325387 -0.102564866092407 -0.128367753153953 NA NA 0.96546630962318 0.984023663567037 -0.11546630962318 NA NA NA FALSE 0.923 1.842 NA NA NA ZFYVE21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZFYVE21 NA NA NA ENSG00000100711 ENSE00003504542 missense_variant 1.917951 0.7362 0.81052 0.712529 0.947926160405911 0 0.713442898007109 FALSE 1.62472e-05 ENSE00000862428_024 ENSE00000862428 024 14 104193064 104193233 + 65 51 54 C T 104193185 1801 122 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGTTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG 103726726 103726896 103726847 103726848 103726848 downstr_intron 6 1.11320754716981 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGTTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG mutant NA NA NA NA NA 86 44 1 1 1 0.952564866092407 0.978367753153953 0.974644730808687 0.993402596325387 NA NA 0.0253552691913133 0.0065974036746127 0.96546630962318 0.984023663567037 NA 0.015976336432963 NA FALSE NA 0.059 0.137 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ZFYVE21 HGNC 20760 ENST00000554255 2/2 1 NA GCT C,T 1.647e-05 14:103726848 ZFYVE21 HGNC Symbol protein_coding 17938 ENSG00000100711 ENSE00003504542 splice_region_variant 1.285067 0.32823 0.02707 0.255825 0.919558573203949 0.445083 0.713442898007109 FALSE 8.12922e-06 ENSE00000862428_033 ENSE00000862428 033 14 104193064 104193233 + 65 51 54 G A 104193210 1810 147 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGAGAAGAGGGGAGGGGCCCCAACAG 103726726 103726896 103726872 103726873 103726873 downstr_intron 31 1.58490566037736 GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGAGAAGAGGGGAGGGGCCCCAACAG GTCGTGCCCCAGCGACGTGGTGAGTGACCAAGCTGCGTTTTAACGCTTTGTCGTGTCTTTCCTAGTGTCGGAGATGTATGCAGTGTGACGCCAAGTTTGACTTTCTCACCAGAAAGGTGAGCTGAGGCCGCTGAGTGGGGGTGGTGGGAAGAGGGGAGGGGCCCCAACAG mutant NA NA NA NA NA 18 16 0.828880722521591 0.8 0.814440361260796 0.952564866092407 0.978367753153953 0.974644730808687 0.993402596325387 NA NA -0.145764008287096 -0.193402596325387 0.96546630962318 0.984023663567037 NA -0.169583302306242 NA FALSE NA 0.001 1.131 . intron_variant&non_coding_transcript_variant MODIFIER ZFYVE21 HGNC 20760 ENST00000554255 2/2 1 NA GGG G,A 8.237e-06 14:103726873 ZFYVE21 HGNC Symbol protein_coding 17938 ENSG00000100711 ENSE00003504542 non_coding_transcript_exon_variant 0.23366 0.12868 0.01771 0.099367 0.701323187961962 0.0938151 0.713442898007109 FALSE 4.07329e-06 ENSE00000863724_000 ENSE00000863724 000 11 64607993 64608162 - 32 96 42 NA NA NA NA NA TGTTCCCCTCCAGCCCCGCCACGTATCCTCACCAGGTACTCCTCGTCTTGGAAGGCATAGTGCAGAGTGGTCACCCAACGGCTGTCCCCTTTCACGAGCACATCCCGCTCCTCCCGGAAACAGGCTGTCTGCAGCAGGTTTGGGGAAGTAAGGGGTGGGGTGGGATCAGA 64840520 64840690 NA NA NA NA NA NA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA natural 145 281 0.85 0.842108369525062 0.846054184762531 437 64 0.950180815469569 0.949182898507723 0.949681856988646 0.85 0.842108369525062 0.950180815469569 0.949182898507723 0 0 0 0 0.846054184762531 0.949681856988646 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC42BPG NA NA NA ENSG00000171219 ENSE00000863724 NA NA NA NA NA NA NA 1.40627803289603e-17 FALSE NA ENSE00000863724_004 ENSE00000863724 004 11 64607993 64608162 - 32 96 42 C A 64608014 1640 149 TGTTCCCCTCCAGCCCCGCCAAGTATCCTCACCAGGTACTCCTCGTCTTGGAAGGCATAGTGCAGAGTGGTCACCCAACGGCTGTCCCCTTTCACGAGCACATCCCGCTCCTCCCGGAAACAGGCTGTCTGCAGCAGGTTTGGGGAAGTAAGGGGTGGGGTGGGATCAGA 64840520 64840690 64840541 64840542 64840542 downstr_intron 11 1.35483870967742 TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACTTGGCGGGGCTGGAGGGGAACA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA mutant 208 472 0.847360275547527 0.85 0.848680137773764 NA NA NA NA NA 0.85 0.842108369525062 0.950180815469569 0.949182898507723 -0.00263972445247285 0.00789163047493835 NA NA 0.846054184762531 0.949681856988646 0.00262595301123275 NA NA NA FALSE 0 -0.741 NA NA NA CDC42BPG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:64840542 CDC42BPG HGNC Symbol protein_coding 21182 ENSG00000171219 ENSE00000863724 intron_variant -0.152786 0.10431 0.00411 0.078448 0.367094217063974 0.060117 1.40627803289603e-17 FALSE 0 ENSE00000863724_005 ENSE00000863724 005 11 64607993 64608162 - 32 96 42 T A 64608035 1641 128 TGTTCCCCTCCAGCCCCGCCACGTATCCTCACCAGGTACTCCACGTCTTGGAAGGCATAGTGCAGAGTGGTCACCCAACGGCTGTCCCCTTTCACGAGCACATCCCGCTCCTCCCGGAAACAGGCTGTCTGCAGCAGGTTTGGGGAAGTAAGGGGTGGGGTGGGATCAGA 64840520 64840690 64840562 64840563 64840563 exon -11 0.895833333333333 TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGTGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA mutant 31 58 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.842108369525062 0.950180815469569 0.949182898507723 0 0.00789163047493835 NA NA 0.846054184762531 0.949681856988646 0.00394581523746917 NA NA NA FALSE 1 6.083 . missense_variant MODERATE CDC42BPG HGNC 29829 ENST00000342711 4/37 1 deleterious(0) probably_damaging(0.96) NA CTC T 8.236e-06 11:64840563 CDC42BPG HGNC Symbol protein_coding 21182 ENSG00000171219 ENSE00000863724 missense_variant 6.479397 0.98932 0.96726 0.695654 0.990691457016199 0 1.40627803289603e-17 FALSE 4.06369e-06 ENSE00000863724_012 ENSE00000863724 012 11 64607993 64608162 - 32 96 42 C T 64608087 1648 76 TGTTCCCCTCCAGCCCCGCCACGTATCCTCACCAGGTACTCCTCGTCTTGGAAGGCATAGTGCAGAGTGGTCACCCAACGGCTGTCCCCTTTCATGAGCACATCCCGCTCCTCCCGGAAACAGGCTGTCTGCAGCAGGTTTGGGGAAGTAAGGGGTGGGGTGGGATCAGA 64840520 64840690 64840614 64840615 64840615 exon 34 0.354166666666667 TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCATGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA mutant 13 15 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.842108369525062 0.950180815469569 0.949182898507723 0 0.00789163047493835 NA NA 0.846054184762531 0.949681856988646 0.00394581523746917 NA NA NA FALSE 1 5.863 . missense_variant MODERATE CDC42BPG HGNC 29829 ENST00000342711 4/37 1 deleterious(0) probably_damaging(1) NA ACG C 1.647e-05 11:64840615 CDC42BPG HGNC Symbol protein_coding 21182 ENSG00000171219 ENSE00000863724 missense_variant 6.219669 0.99174 0.96334 0.695654 0.998975255188224 0 1.40627803289603e-17 FALSE 1.62484e-05 ENSE00000863724_014 ENSE00000863724 014 11 64607993 64608162 - 32 96 42 C T 64608097 1650 66 TGTTCCCCTCCAGCCCCGCCACGTATCCTCACCAGGTACTCCTCGTCTTGGAAGGCATAGTGCAGAGTGGTCACCCAACGGCTGTCCCCTTTCACGAGCACATCTCGCTCCTCCCGGAAACAGGCTGTCTGCAGCAGGTTTGGGGAAGTAAGGGGTGGGGTGGGATCAGA 64840520 64840690 64840624 64840625 64840625 exon 24 0.25 TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGAGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA mutant NA NA NA NA NA 19 99 1 1 1 0.85 0.842108369525062 0.950180815469569 0.949182898507723 NA NA 0.049819184530431 0.0508171014922769 0.846054184762531 0.949681856988646 NA 0.050318143011354 NA FALSE NA 0.009 -0.689 . synonymous_variant LOW CDC42BPG HGNC 29829 ENST00000342711 4/37 rs557591954 1 T:0.0014 T:0 T:0 NA T:0 T:0 T:0.0072 CCC C 0.001227 11:64840625 CDC42BPG HGNC Symbol protein_coding 21182 ENSG00000171219 ENSE00000863724 synonymous_variant 1.107266 0.8302 0.07712 0.695654 0.594648496338446 0 1.40627803289603e-17 FALSE 0.00113342 ENSE00000863724_015 ENSE00000863724 015 11 64607993 64608162 - 32 96 42 C T 64608098 1651 65 TGTTCCCCTCCAGCCCCGCCACGTATCCTCACCAGGTACTCCTCGTCTTGGAAGGCATAGTGCAGAGTGGTCACCCAACGGCTGTCCCCTTTCACGAGCACATCCTGCTCCTCCCGGAAACAGGCTGTCTGCAGCAGGTTTGGGGAAGTAAGGGGTGGGGTGGGATCAGA 64840520 64840690 64840625 64840626 64840626 exon 23 0.239583333333333 TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCAGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA mutant NA NA NA NA NA 11 26 0.8 0.8 0.8 0.85 0.842108369525062 0.950180815469569 0.949182898507723 NA NA -0.150180815469569 -0.149182898507723 0.846054184762531 0.949681856988646 NA -0.149681856988646 NA FALSE NA 1 7.623 . missense_variant MODERATE CDC42BPG HGNC 29829 ENST00000342711 4/37 1 deleterious(0) probably_damaging(1) NA CCG C 8.237e-06 11:64840626 CDC42BPG HGNC Symbol protein_coding 21182 ENSG00000171219 ENSE00000863724 missense_variant 7.276314 0.99174 0.98401 0.695654 0.999563697810671 0 1.40627803289603e-17 FALSE 8.12526e-06 ENSE00000863724_BRK ENSE00000863724 BRK 11 64607993 64608162 - 32 96 42 A,G; T,T NA NA NA TGTTCCCCTCCAGCCCCGCCACGTATCCTCGGCAGGTACTCCTCGTCTTGGAAGGCATAGTGCAGAGTGGTCACCCAACGGCTGTCCCCTTTCACGAGCACATCCCGCTCCTCCCGGAAACAGGCTGTAAGCAGCAGGTTTGGGGAAGTAAGGGGTGGGGTGGGATCAGA 64840520 64840690 NA NA NA NA NA NA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCTTACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGCCGAGGATACGTGGCGGGGCTGGAGGGGAACA TCTGATCCCACCCCACCCCTTACTTCCCCAAACCTGCTGCAGACAGCCTGTTTCCGGGAGGAGCGGGATGTGCTCGTGAAAGGGGACAGCCGTTGGGTGACCACTCTGCACTATGCCTTCCAAGACGAGGAGTACCTGGTGAGGATACGTGGCGGGGCTGGAGGGGAACA control 167 264 0 0 0 NA NA NA NA NA 0.85 0.842108369525062 0.950180815469569 0.949182898507723 -0.85 -0.842108369525062 NA NA 0.846054184762531 0.949681856988646 -0.846054184762531 NA NA NA TRUE NA NA NA NA NA CDC42BPG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC42BPG NA NA NA ENSG00000171219 ENSE00000863724 NA NA NA NA NA NA NA 1.40627803289603e-17 FALSE NA ENSE00000863750_000 ENSE00000863750 000 11 64680480 64680649 - 30 99 41 NA NA NA NA NA ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 NA NA NA NA NA NA ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG natural NA NA NA NA NA 2342 894 0.960785594792538 0.985393925592991 0.973089760192765 NA NA 0.960785594792538 0.985393925592991 NA NA 0 0 NA 0.973089760192765 NA 0 NA FALSE NA NA NA NA NA NA PPP2R5B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATG2A NA NA NA ENSG00000110046 ENSE00000863750 NA NA NA NA NA NA NA 0.999922729645369 TRUE NA ENSE00000863750_001 ENSE00000863750 001 11 64680480 64680649 - 30 99 41 G A 64680503 1658 147 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTTCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913030 64913031 64913031 downstr_intron 7 1.24137931034483 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTTCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 55 90 0.995422193730858 1 0.997711096865429 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0346365989383199 0.0146060744070088 NA 0.973089760192765 NA 0.0246213366726644 NA FALSE NA 0.007 0.512 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA GGA G,A 1.673e-05 11:64913031 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 splice_region_variant 1.564666 0.63809 0.04223 0.21705 0.767649962758731 0.416881 0.999922729645369 TRUE 3.94187e-05 ENSE00000863750_004 ENSE00000863750 004 11 64680480 64680649 - 30 99 41 C T 64680555 1661 95 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAACTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913082 64913083 64913083 exon -46 0.545454545454545 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAACTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 483 148 0.99925499580272 1 0.99962749790136 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0384694010101818 0.0146060744070088 NA 0.973089760192765 NA 0.0265377377085953 NA FALSE NA 0.991 0.974 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA GCT C,T 8.272e-06 11:64913083 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 synonymous_variant 1.695968 0.96001 0.8572 0.744818 0.814233743436872 0 0.999922729645369 TRUE 1.54099e-05 ENSE00000863750_005 ENSE00000863750 005 11 64680480 64680649 - 30 99 41 G A 64680570 1662 80 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGTTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913097 64913098 64913098 exon 39 0.393939393939394 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGTTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 148 95 0.990547098962535 1 0.995273549481268 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0297615041699969 0.0146060744070088 NA 0.973089760192765 NA 0.0221837892885028 NA FALSE NA 1 2.241 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA AGC G,A 3.307e-05 11:64913098 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 synonymous_variant 1.037301 0.96282 0.90625 0.744818 0.848721855976135 0 0.999922729645369 TRUE 1.52124e-05 ENSE00000863750_006 ENSE00000863750 006 11 64680480 64680649 - 30 99 41 G A 64680573 1663 77 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGTTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913100 64913101 64913101 exon 36 0.363636363636364 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGTTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant 14 39 0.997821537709982 0.992325025538461 0.995073281624221 NA NA NA NA NA NA NA 0.960785594792538 0.985393925592991 NA NA NA NA NA 0.973089760192765 NA NA NA NA NA 1 3.401 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA AGC G,A 8.267e-06 11:64913101 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 synonymous_variant 1.263061 0.96169 0.94913 0.744818 0.839884885840333 0 0.999922729645369 TRUE 5.06006e-06 ENSE00000863750_007 ENSE00000863750 007 11 64680480 64680649 - 30 99 41 C T 64680578 1664 72 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCAGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913105 64913106 64913106 exon 31 0.313131313131313 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCAGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 534 246 0.999149172842857 0.998712023762112 0.998930598302485 NA NA 0.960785594792538 0.985393925592991 NA NA 0.038363578050319 0.0133180981691208 NA 0.973089760192765 NA 0.0258408381097199 NA FALSE NA 0.992 3.782 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA CCG C,T 8.264e-06 11:64913106 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 missense_variant 6.20482 0.98607 0.88822 0.744818 0.997419397743079 0 0.999922729645369 TRUE NA ENSE00000863750_008 ENSE00000863750 008 11 64680480 64680649 - 30 99 41 G A 64680579 1665 71 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATTGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913106 64913107 64913107 exon 30 0.303030303030303 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATTGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 552 362 0.995246500432544 1 0.997623250216272 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0344609056400055 0.0146060744070088 NA 0.973089760192765 NA 0.0245334900235071 NA FALSE NA 0 -2.989 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA CGA G,A 1.653e-05 11:64913107 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 synonymous_variant 1.846984 0.87872 0.00576 0.744818 0.87418382842484 0 0.999922729645369 TRUE NA ENSE00000863750_009 ENSE00000863750 009 11 64680480 64680649 - 30 99 41 G C 64680589 1666 61 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCGCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913116 64913117 64913117 exon 20 0.202020202020202 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCGCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 287 744 0.992901859712358 0.994222304087471 0.993562081899915 NA NA 0.960785594792538 0.985393925592991 NA NA 0.03211626491982 0.00882837849447971 NA 0.973089760192765 NA 0.0204723217071499 NA FALSE NA 0.587 1.393 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA GGG G,C 8.262e-06 11:64913117 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 missense_variant 5.033159 0.59941 0.85885 0.744818 0.99723219599768 0 0.999922729645369 TRUE 2.93568e-05 ENSE00000863750_010 ENSE00000863750 010 11 64680480 64680649 - 30 99 41 G A 64680591 1667 59 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCTCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913118 64913119 64913119 exon 18 0.181818181818182 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCTCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 2641 46 0.983082058181121 1 0.991541029090561 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0222964633885828 0.0146060744070088 NA 0.973089760192765 NA 0.0184512688977958 NA FALSE NA 0.562 -0.338 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA GGG G,A 3.305e-05 11:64913119 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 synonymous_variant 0.861606 0.18245 0.06083 0.744818 0.82225389547342 0 0.999922729645369 TRUE NA ENSE00000863750_011 ENSE00000863750 011 11 64680480 64680649 - 30 99 41 G T 64680592 1668 58 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCACCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913119 64913120 64913120 exon 17 0.171717171717172 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCACCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 488 64 0.999068650777042 0.999403137188643 0.999235893982843 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0382830559845039 0.0140092115956518 NA 0.973089760192765 NA 0.0261461337900779 NA FALSE NA 0.998 3.862 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA GGG G,T 4.958e-05 11:64913120 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 missense_variant 1.13826 0.27662 0.85549 0.744818 0.977923794181945 0 0.999922729645369 TRUE 3.97824e-05 ENSE00000863750_012 ENSE00000863750 012 11 64680480 64680649 - 30 99 41 T C 64680595 1669 55 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGGGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913122 64913123 64913123 exon 14 0.141414141414141 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGGGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 112 1422 0.967311772917483 0.997713734263038 0.98251275359026 NA NA 0.960785594792538 0.985393925592991 NA NA 0.00652617812494416 0.0123198086700465 NA 0.973089760192765 NA 0.00942299339749531 NA FALSE NA 0 -0.348 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA CTC T,C 1.652e-05 11:64913123 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 missense_variant 1.341179 0.26925 0.04638 0.744818 0.98643297102773 0 0.999922729645369 TRUE 4.91203e-06 ENSE00000863750_013 ENSE00000863750 013 11 64680480 64680649 - 30 99 41 C T 64680603 1670 47 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAACCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913130 64913131 64913131 exon 6 0.0606060606060606 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAACCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 80 620 1 1 1 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0392144052074616 0.0146060744070088 NA 0.973089760192765 NA 0.0269102398072352 NA FALSE NA 0 -3.089 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 rs570958352 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GCT C,T 4.13e-05 11:64913131 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 synonymous_variant 0.99852 0.07418 0.00959 0.706548 0.745578724158865 0 0.999922729645369 TRUE 3.92153e-05 ENSE00000863750_014 ENSE00000863750 014 11 64680480 64680649 - 30 99 41 G A 64680611 1671 39 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCTAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913138 64913139 64913139 upstr_intron -3 -0.0487804878048781 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCTAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 27 988 0.998465751397898 0.965845882132109 0.982155816765004 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0376801566053597 -0.0195480434608822 NA 0.973089760192765 NA 0.00906605657223875 NA FALSE NA 1 1.178 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA TGG G,A 8.261e-06 11:64913139 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 splice_region_variant 1.413172 0.97086 0.81303 0.099367 0.825777035538693 0.271459 0.999922729645369 TRUE 4.86694e-06 ENSE00000863750_016 ENSE00000863750 016 11 64680480 64680649 - 30 99 41 G A 64680618 1673 32 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCTGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913145 64913146 64913146 upstr_intron -10 -0.219512195121951 ATTTTCTCAACCTTTCCCTCTTGTATCCTCCTGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 76 701 1 0.974910391461875 0.987455195730937 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0392144052074616 -0.0104835341311162 NA 0.973089760192765 NA 0.0143654355381727 NA FALSE NA 0 -1.579 rs186654581 upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 rs186654581 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0 CGG G,A 6.608e-05 11:64913146 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 intron_variant 0.016295 0.09886 0.00234 0.062308 0.350093995691002 0.104695 0.999922729645369 TRUE 5.7468e-05 ENSE00000863750_017 ENSE00000863750 017 11 64680480 64680649 - 30 99 41 G T 64680619 1674 31 ATTTTCTCAACCTTTCCCTCTTGTATCCTCACGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG 64913007 64913177 64913146 64913147 64913147 upstr_intron -11 -0.24390243902439 ATTTTCTCAACCTTTCCCTCTTGTATCCTCACGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG ATTTTCTCAACCTTTCCCTCTTGTATCCTCCCGTCTCCCAGGAAGAGCCTCCAGAGCCCCCCTTGCAGATCGGCAGCTGCTCAGGGTACATGGAGCTGATGGTGAAGTTGAAGCAAAATGAGGCCTTCCCTGGCCCCAAGGTGGGTCCCCAGGCCCCTGGGGAGGGGGTG mutant NA NA NA NA NA 61 242 1 0.83481106044673 0.917405530223365 NA NA 0.960785594792538 0.985393925592991 NA NA 0.0392144052074616 -0.150582865146261 NA 0.973089760192765 NA -0.0556842299693999 NA FALSE NA 0.004 0.698 . upstream_gene_variant MODIFIER PPP2R5B HGNC 9310 ENST00000413292 1 NA GGG G,T 1.652e-05 11:64913147 ATG2A HGNC Symbol protein_coding 22702 ENSG00000110046 ENSE00000863750 intron_variant -0.284421 0.17221 0.04646 0.062308 0.628863300121194 0.0969369 0.999922729645369 TRUE NA ENSE00000864527_000 ENSE00000864527 000 19 50250608 50250777 - 38 84 48 NA NA NA NA NA TCCTCCCACAAATCCTGGGACTGCCCCCTAGCCCTTACCTCCAGCAGGGCAGAATTCTGCTTCAAGACGTTGGTTTTGATTTCAGCATCTTCCACAGACCGGGTCACCTTCCAGCAGTTCTCCTGGGTCAGACACCAGGGCGAGGGCCCTGCCTTCCCATTCCAGTTCTG 49747350 49747520 NA NA NA NA NA NA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA natural 34 14 0.945527052580694 0.968011745587561 0.956769399084128 700 1136 0.985712039813561 0.983840225954012 0.984776132883786 0.945527052580694 0.968011745587561 0.985712039813561 0.983840225954012 0 0 0 0 0.956769399084128 0.984776132883786 0 0 0 FALSE FALSE NA NA NA NA NA TSKS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSKS NA NA NA ENSG00000126467 ENSE00000864527 NA NA NA NA NA NA NA 0.980813772290248 TRUE NA ENSE00000864527_001 ENSE00000864527 001 19 50250608 50250777 - 38 84 48 A G 50250618 2977 160 TCCTCCCACAGATCCTGGGACTGCCCCCTAGCCCTTACCTCCAGCAGGGCAGAATTCTGCTTCAAGACGTTGGTTTTGATTTCAGCATCTTCCACAGACCGGGTCACCTTCCAGCAGTTCTCCTGGGTCAGACACCAGGGCGAGGGCCCTGCCTTCCCATTCCAGTTCTG 49747350 49747520 49747360 49747361 49747361 downstr_intron 28 1.75675675675676 CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATCTGTGGGAGGA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA mutant NA NA NA NA NA 848 628 0.995094216721868 0.988147724765034 0.991620970743451 0.945527052580694 0.968011745587561 0.985712039813561 0.983840225954012 NA NA 0.00938217690830778 0.00430749881102188 0.956769399084128 0.984776132883786 NA 0.00684483785966483 NA FALSE NA 0 0.754 . intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 5/10 1 NA AAA A,G 8.236e-06 19:49747361 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864527 5_prime_UTR_variant 1.417117 0.16771 0.02987 0.056701 0.802426008995288 0.110667 0.980813772290248 TRUE 1.62579e-05 ENSE00000864527_002 ENSE00000864527 002 19 50250608 50250777 - 38 84 48 C T 50250621 2978 157 TCCTCCCACAAATTCTGGGACTGCCCCCTAGCCCTTACCTCCAGCAGGGCAGAATTCTGCTTCAAGACGTTGGTTTTGATTTCAGCATCTTCCACAGACCGGGTCACCTTCCAGCAGTTCTCCTGGGTCAGACACCAGGGCGAGGGCCCTGCCTTCCCATTCCAGTTCTG 49747350 49747520 49747363 49747364 49747364 downstr_intron 25 1.67567567567568 CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGAATTTGTGGGAGGA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA mutant NA NA NA NA NA 56 100 1 1 1 0.945527052580694 0.968011745587561 0.985712039813561 0.983840225954012 NA NA 0.0142879601864394 0.0161597740459878 0.956769399084128 0.984776132883786 NA 0.0152238671162136 NA FALSE NA 0 0.527 . intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 5/10 rs550907241 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 TCC C,T 0.0001565 19:49747364 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864527 5_prime_UTR_variant 1.562006 0.15152 0.05703 0.056701 0.899204231777894 0.134695 0.980813772290248 TRUE 0.00015849 ENSE00000864527_010 ENSE00000864527 010 19 50250608 50250777 - 38 84 48 T C 50250678 2986 100 TCCTCCCACAAATCCTGGGACTGCCCCCTAGCCCTTACCTCCAGCAGGGCAGAATTCTGCTTCAAGACGTCGGTTTTGATTTCAGCATCTTCCACAGACCGGGTCACCTTCCAGCAGTTCTCCTGGGTCAGACACCAGGGCGAGGGCCCTGCCTTCCCATTCCAGTTCTG 49747350 49747520 49747420 49747421 49747421 exon -33 0.619047619047619 CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCGACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA mutant NA NA NA NA NA 95 37 1 1 1 0.945527052580694 0.968011745587561 0.985712039813561 0.983840225954012 NA NA 0.0142879601864394 0.0161597740459878 0.956769399084128 0.984776132883786 NA 0.0152238671162136 NA FALSE NA 1 3.892 rs185047292 missense_variant MODERATE TSKS HGNC 30719 ENST00000246801 5/11 rs185047292 1 deleterious(0.04) benign(0.297) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTG T,C 8.236e-06 19:49747421 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864527 missense_variant 2.688118 0.97918 0.84253 0.403107 0.996327689683507 0 0.980813772290248 TRUE NA ENSE00000864527_013 ENSE00000864527 013 19 50250608 50250777 - 38 84 48 G A 50250708 2989 70 TCCTCCCACAAATCCTGGGACTGCCCCCTAGCCCTTACCTCCAGCAGGGCAGAATTCTGCTTCAAGACGTTGGTTTTGATTTCAGCATCTTCCACAGACCAGGTCACCTTCCAGCAGTTCTCCTGGGTCAGACACCAGGGCGAGGGCCCTGCCTTCCCATTCCAGTTCTG 49747350 49747520 49747450 49747451 49747451 exon 22 0.261904761904762 CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCTGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA mutant NA NA NA NA NA 180 90 1 1 1 0.945527052580694 0.968011745587561 0.985712039813561 0.983840225954012 NA NA 0.0142879601864394 0.0161597740459878 0.956769399084128 0.984776132883786 NA 0.0152238671162136 NA FALSE NA 0.998 1.666 . missense_variant MODERATE TSKS HGNC 30719 ENST00000246801 5/11 rs377575323 1 deleterious(0.01) possibly_damaging(0.901) NA A:0 A:0.0001 CGG G,A 3.295e-05 19:49747451 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864527 missense_variant 7.129805 0.94389 0.5893 0.403107 0.999196666781319 0 0.980813772290248 TRUE 2.03047e-05 ENSE00000864527_020 ENSE00000864527 020 19 50250608 50250777 - 38 84 48 G A 50250747 2996 31 TCCTCCCACAAATCCTGGGACTGCCCCCTAGCCCTTACCTCCAGCAGGGCAGAATTCTGCTTCAAGACGTTGGTTTTGATTTCAGCATCTTCCACAGACCGGGTCACCTTCCAGCAGTTCTCCTGGGTCAGACACCAGGACGAGGGCCCTGCCTTCCCATTCCAGTTCTG 49747350 49747520 49747489 49747490 49747490 upstr_intron -18 -0.354166666666667 CAGAACTGGAATGGGAAGGCAGGGCCCTCGTCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA mutant NA NA NA NA NA 411 131 0.977353474918074 0.994269206870685 0.985811340894379 0.945527052580694 0.968011745587561 0.985712039813561 0.983840225954012 NA NA -0.00835856489548703 0.010428980916673 0.956769399084128 0.984776132883786 NA 0.00103520801059298 NA FALSE NA 0.988 2.048 NA NA NA TSKS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:49747490 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864527 intron_variant 2.347271 0.96013 0.81169 0.056701 0.820746730825912 0.441344 0.980813772290248 TRUE 5.68713e-05 ENSE00000864527_BRK ENSE00000864527 BRK 19 50250608 50250777 - 38 84 48 A,G; T,T NA NA NA TCCTCCCACAAATCCTGGGACTGCCCCCTAGCCCTTGGCTCCAGCAGGGCAGAATTCTGCTTCAAGACGTTGGTTTTGATTTCAGCATCTTCCACAGACCGGGTCACCTTCCAGCAGTTCTCAAGGGTCAGACACCAGGGCGAGGGCCCTGCCTTCCCATTCCAGTTCTG 49747350 49747520 NA NA NA NA NA NA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCTTGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGCCAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA CAGAACTGGAATGGGAAGGCAGGGCCCTCGCCCTGGTGTCTGACCCAGGAGAACTGCTGGAAGGTGACCCGGTCTGTGGAAGATGCTGAAATCAAAACCAACGTCTTGAAGCAGAATTCTGCCCTGCTGGAGGTAAGGGCTAGGGGGCAGTCCCAGGATTTGTGGGAGGA control 36 29 0 0 0 NA NA NA NA NA 0.945527052580694 0.968011745587561 0.985712039813561 0.983840225954012 -0.945527052580694 -0.968011745587561 NA NA 0.956769399084128 0.984776132883786 -0.956769399084128 NA NA NA TRUE NA NA NA NA NA TSKS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSKS NA NA NA ENSG00000126467 ENSE00000864527 NA NA NA NA NA NA NA 0.980813772290248 TRUE NA ENSE00000864528_000 ENSE00000864528 000 19 50251304 50251473 - 38 84 48 NA NA NA NA NA CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 NA NA NA NA NA NA GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG natural 160 141 0.994829821471603 0.997756475860452 0.996293148666028 1085 2076 0.993340027562891 0.92281880883654 0.958079418199716 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 0 0 0 0 0.996293148666028 0.958079418199716 0 0 0 FALSE FALSE NA NA NA NA NA TSKS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSKS NA NA NA ENSG00000126467 ENSE00000864528 NA NA NA NA NA NA NA 0.980813772290248 TRUE NA ENSE00000864528_002 ENSE00000864528 002 19 50251304 50251473 - 38 84 48 G A 50251325 3002 149 CCCCTCTCCCCATCCATTCCTACGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748067 49748068 49748068 downstr_intron 17 1.45945945945946 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGTAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 656 220 0.999244752199703 0.999826827207476 0.999535789703589 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.0059047246368118 0.0770080183709354 0.996293148666028 0.958079418199716 NA 0.0414563715038736 NA FALSE NA 0.001 -0.13 . intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 4/10 1 NA TGC G,A 8.236e-06 19:49748068 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 intron_variant 0.126992 0.28756 0.00617 0.053691 0.488646988793152 0.0699716 0.980813772290248 TRUE 4.0619e-06 ENSE00000864528_003 ENSE00000864528 003 19 50251304 50251473 - 38 84 48 C T 50251326 3003 148 CCCCTCTCCCCATCCATTCCTGTGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748068 49748069 49748069 downstr_intron 16 1.43243243243243 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACACAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 319 30 1 1 1 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0419205818002842 NA FALSE NA 0.001 0.221 rs115871808 intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 4/10 rs115871808 1 T:0.0124 T:0.0446 T:0.0043 NA T:0 T:0 T:0 T:0.0252 T:0.0001 GCG C,T 0.002776 19:49748069 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 intron_variant 0.026284 0.13245 0.00435 0.053691 0.340503030864582 0.0782031 0.980813772290248 TRUE 0.002161 ENSE00000864528_004 ENSE00000864528 004 19 50251304 50251473 - 38 84 48 G T 50251327 3004 147 CCCCTCTCCCCATCCATTCCTGCTTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748069 49748070 49748070 downstr_intron 15 1.40540540540541 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGAAGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 265 345 0.995927061797625 1 0.997963530898812 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00258703423473317 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0398841126990965 NA FALSE NA 0 0.129 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:49748070 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 intron_variant -0.737218 0.0562 0.02365 0.053691 0.533744615731379 0.0782031 0.980813772290248 TRUE 4.06171e-06 ENSE00000864528_005 ENSE00000864528 005 19 50251304 50251473 - 38 84 48 G A 50251327 3005 147 CCCCTCTCCCCATCCATTCCTGCATCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748069 49748070 49748070 downstr_intron 15 1.40540540540541 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGATGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 310 171 0.997991518354168 1 0.998995759177084 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00465149079127647 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0409163409773682 NA FALSE NA 0 0.129 NA NA NA TSKS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSKS NA NA NA ENSG00000126467 ENSE00000864528 intron_variant -0.518228 0.05931 0.01649 0.053691 0.56795924208823 0.0782031 0.980813772290248 TRUE 2.84319e-05 ENSE00000864528_007 ENSE00000864528 007 19 50251304 50251473 - 38 84 48 T C 50251338 3007 136 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCCCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748080 49748081 49748081 downstr_intron 4 1.10810810810811 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGGGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 12 18 1 1 1 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0419205818002842 NA FALSE NA 0.992 0.867 . splice_region_variant&intron_variant LOW TSKS HGNC 30719 ENST00000246801 4/10 1 NA CTC T,C 8.236e-06 19:49748081 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 splice_region_variant 1.16868 0.95635 0.70882 0.053691 0.848514927218982 0.405664 0.980813772290248 TRUE 4.06124e-06 ENSE00000864528_009 ENSE00000864528 009 19 50251304 50251473 - 38 84 48 C A 50251342 3009 132 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACATTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748084 49748085 49748085 exon -1 1 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAATGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 43 593 0 0.000852933044635325 0.000426466522317663 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA -0.993340027562891 -0.921965875791905 0.996293148666028 0.958079418199716 NA -0.957652951677398 NA TRUE NA 1 2.393 . missense_variant&splice_region_variant MODERATE TSKS HGNC 30719 ENST00000246801 4/11 1 deleterious(0.01) probably_damaging(0.998) NA CCT C,A 8.236e-06 19:49748085 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 missense_variant 6.535334 0.98234 0.93674 0.428477 0.998532934578601 0 0.980813772290248 TRUE 4.06105e-06 ENSE00000864528_010 ENSE00000864528 010 19 50251304 50251473 - 38 84 48 G A 50251354 3010 120 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATACAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748096 49748097 49748097 exon -13 0.857142857142857 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGTATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 21 334 1 1 1 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0419205818002842 NA FALSE NA 0.004 -1.651 . synonymous_variant LOW TSKS HGNC 30719 ENST00000246801 4/11 1 NA TGC G,A 8.236e-05 19:49748097 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 synonymous_variant 0.743003 0.15189 0.01381 0.554377 0.620333605648634 0 0.980813772290248 TRUE 5.27902e-05 ENSE00000864528_012 ENSE00000864528 012 19 50251304 50251473 - 38 84 48 G A 50251376 3012 98 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTACCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748118 49748119 49748119 exon -35 0.595238095238095 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGTAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 59 32 0.978541734192599 0.827571623352715 0.903056678772657 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA -0.0147982933702921 -0.0952471854838248 0.996293148666028 0.958079418199716 NA -0.0550227394270585 NA FALSE NA 1 4.983 . missense_variant MODERATE TSKS HGNC 30719 ENST00000246801 4/11 1 tolerated(0.05) probably_damaging(0.997) NA TGC G,A 4.118e-05 19:49748119 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 missense_variant 6.499952 0.9836 0.97203 0.554377 0.999178856624389 0 0.980813772290248 TRUE 2.43643e-05 ENSE00000864528_013 ENSE00000864528 013 19 50251304 50251473 - 38 84 48 C T 50251385 3013 89 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCTGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748127 49748128 49748128 exon 41 0.488095238095238 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCAGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 10 184 1 0.975715932323497 0.987857966161749 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0528971234869571 0.996293148666028 0.958079418199716 NA 0.0297785479620328 NA FALSE NA 0.948 2.557 . missense_variant MODERATE TSKS HGNC 30719 ENST00000246801 4/11 rs548410376 1 deleterious(0.04) benign(0.034) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 1.647e-05 19:49748128 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 missense_variant 4.640994 0.98429 0.89797 0.554377 0.999576680645899 0 0.980813772290248 TRUE 1.62433e-05 ENSE00000864528_014 ENSE00000864528 014 19 50251304 50251473 - 38 84 48 G A 50251386 3014 88 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCACCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748128 49748129 49748129 exon 40 0.476190476190476 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGTGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 459 497 1 0.998131586401131 0.999065793200566 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0753127775645909 0.996293148666028 0.958079418199716 NA 0.0409863750008497 NA FALSE NA 0.952 1.714 rs148116338 missense_variant MODERATE TSKS HGNC 30719 ENST00000246801 4/11 rs148116338 1 deleterious(0) probably_damaging(0.927) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 0.0001483 19:49748129 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 missense_variant 7.023368 0.96257 0.7956 0.554377 0.999223522139001 0 0.980813772290248 TRUE 0.000117765 ENSE00000864528_015 ENSE00000864528 015 19 50251304 50251473 - 38 84 48 C T 50251402 3015 72 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTTTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748144 49748145 49748145 exon 24 0.285714285714286 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAAAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 39 146 1 1 1 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0419205818002842 NA FALSE NA 1 0.698 . synonymous_variant LOW TSKS HGNC 30719 ENST00000246801 4/11 1 NA TCT C,T 8.236e-06 19:49748145 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 synonymous_variant 1.229763 0.96144 0.71042 0.554377 0.381001953295732 0 0.980813772290248 TRUE 4.06078e-06 ENSE00000864528_016 ENSE00000864528 016 19 50251304 50251473 - 38 84 48 C T 50251404 3016 70 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTTGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748146 49748147 49748147 exon 22 0.261904761904762 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCAAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 29 60 1 1 1 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0419205818002842 NA FALSE NA 0.994 3.993 . missense_variant MODERATE TSKS HGNC 30719 ENST00000246801 4/11 1 deleterious(0.01) probably_damaging(0.996) NA TCG C,T 8.236e-06 19:49748147 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 missense_variant 6.571424 0.97419 0.9244 0.554377 0.999181322734609 0 0.980813772290248 TRUE 4.06081e-06 ENSE00000864528_017 ENSE00000864528 017 19 50251304 50251473 - 38 84 48 C T 50251408 3017 66 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTTAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748150 49748151 49748151 exon 18 0.214285714285714 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTAAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 30 109 1 0.990373790269157 0.995186895134579 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0675549814326171 0.996293148666028 0.958079418199716 NA 0.0371074769348628 NA FALSE NA 1 0.376 . synonymous_variant LOW TSKS HGNC 30719 ENST00000246801 4/11 1 NA TCA C,T 8.236e-06 19:49748151 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 synonymous_variant 1.042543 0.96267 0.8188 0.554377 0.557443509712102 0 0.980813772290248 TRUE 4.06081e-06 ENSE00000864528_018 ENSE00000864528 018 19 50251304 50251473 - 38 84 48 A G 50251419 3018 55 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACGCTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748161 49748162 49748162 exon 7 0.0833333333333333 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGCGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 237 23 1 1 1 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0419205818002842 NA FALSE NA 1 4.782 . missense_variant MODERATE TSKS HGNC 30719 ENST00000246801 4/11 1 deleterious(0) probably_damaging(0.998) NA CAC A,G 8.236e-06 19:49748162 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 missense_variant 4.729778 0.9827 0.962 0.554377 0.996627859426114 0 0.980813772290248 TRUE 8.13392e-06 ENSE00000864528_019 ENSE00000864528 019 19 50251304 50251473 - 38 84 48 C T 50251422 3019 52 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTTGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748164 49748165 49748165 exon 4 0.0476190476190476 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCAAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 36 17 1 1 1 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0419205818002842 NA FALSE NA 0.979 2.556 rs34701020 missense_variant MODERATE TSKS HGNC 30719 ENST00000246801 4/11 rs34701020 1 tolerated(0.18) benign(0.053) T:0.0327 T:0.0545 T:0.0144 NA T:0.001 T:0.0239 T:0.0583 T:0.0415 T:0.0273 TCG C,T 0.028 19:49748165 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 missense_variant 2.505167 0.97258 0.87498 0.554377 0.995150820874531 0 0.980813772290248 TRUE 0.026453 ENSE00000864528_021 ENSE00000864528 021 19 50251304 50251473 - 38 84 48 G A 50251429 3021 45 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGAAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748171 49748172 49748172 upstr_intron -4 -0.0625 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTTCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 609 18 0.999932405238327 1 0.999966202619163 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00659237767543552 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0418867844194477 NA FALSE NA 0.27 0.441 . splice_region_variant&intron_variant LOW TSKS HGNC 30719 ENST00000246801 3/10 1 NA GGA G,A 8.236e-06 19:49748172 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 splice_region_variant 0.182093 0.15221 0.10703 0.053691 0.494620982927858 0.256162 0.980813772290248 TRUE 4.06138e-06 ENSE00000864528_022 ENSE00000864528 022 19 50251304 50251473 - 38 84 48 T C 50251434 3022 40 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCACGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748176 49748177 49748177 upstr_intron -9 -0.166666666666667 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCGTGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 479 166 0.998074894196565 1 0.999037447098283 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00473486663367406 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.040958028898567 NA FALSE NA 0 -2.221 . intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 3/10 1 NA ATG T,C 8.236e-06 19:49748177 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 intron_variant -0.096028 0.0919 0.01341 0.053691 0.405922260293626 0.234732 0.980813772290248 TRUE 4.06171e-06 ENSE00000864528_023 ENSE00000864528 023 19 50251304 50251473 - 38 84 48 G A 50251439 3023 35 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAAGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 49748181 49748182 49748182 upstr_intron -14 -0.270833333333333 GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCTTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 244 14 1 1 1 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00665997243710859 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0419205818002842 NA FALSE NA 0.6 0.516 . intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 3/10 1 NA AGG G,A 8.236e-06 19:49748182 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 intron_variant 0.367176 0.15647 0.18777 0.053691 0.524661702104886 0.15958 0.980813772290248 TRUE 4.06289e-06 ENSE00000864528_024 ENSE00000864528 024 19 50251304 50251473 - 38 84 48 C G 50251453 3024 21 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGGCAAGGACACGAGGGGACAGC 49748046 49748216 49748195 49748196 49748196 upstr_intron -28 -0.5625 GCTGTCCCCTCGTGTCCTTGCCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 296 41 0.996169072005712 1 0.998084536002856 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00282904444282051 0.0771811911634599 0.996293148666028 0.958079418199716 NA 0.0400051178031402 NA FALSE NA 0 -0.479 . intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 3/10 rs192023181 1 NA GCC C,G 8.236e-06 19:49748196 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 intron_variant 0.467705 0.15191 0.01177 0.053691 0.737683821388978 0.13331 0.980813772290248 TRUE 4.0661e-06 ENSE00000864528_025 ENSE00000864528 025 19 50251304 50251473 - 38 84 48 A T 50251461 3025 13 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACTCGAGGGGACAGC 49748046 49748216 49748203 49748204 49748204 upstr_intron -36 -0.729166666666667 GCTGTCCCCTCGAGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 264 18 0.999060922599091 0.988677434277791 0.993869178438441 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.0057208950361991 0.0658586254412511 0.996293148666028 0.958079418199716 NA 0.0357897602387251 NA FALSE NA 0 -0.326 . intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 3/10 1 NA CAC A,T 8.236e-06 19:49748204 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 intron_variant -0.106624 0.11027 0.00637 0.053691 0.645653182197236 0.0927247 0.980813772290248 TRUE 4.06845e-06 ENSE00000864528_026 ENSE00000864528 026 19 50251304 50251473 - 38 84 48 C T 50251462 3026 12 CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCACCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTCTGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACATGAGGGGACAGC 49748046 49748216 49748204 49748205 49748205 upstr_intron -37 -0.75 GCTGTCCCCTCATGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG mutant NA NA NA NA NA 808 279 0.998616650558577 0.991675197676956 0.995145924117767 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 NA NA 0.00527662299568588 0.068856388840416 0.996293148666028 0.958079418199716 NA 0.0370665059180509 NA FALSE NA 0 -0.526 . intron_variant MODIFIER TSKS HGNC 30719 ENST00000246801 3/10 rs552270017 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 1.647e-05 19:49748205 TSKS HGNC Symbol protein_coding 23577 ENSG00000126467 ENSE00000864528 intron_variant 0.102387 0.16139 0.04115 0.053691 0.524718146193577 0.053329 0.980813772290248 TRUE 3.25492e-05 ENSE00000864528_BRK ENSE00000864528 BRK 19 50251304 50251473 - 38 84 48 A,G; T,T NA NA NA CCCCTCTCCCCATCCATTCCTGCGTCCCACTGGCTCGGCTTGAGTTGAATGCAGTACCCCTCCAACTCTTCTGCCTCTTGCCGCCTTCTCTCCAGATTCTCGCTCAGCACAGAACACTCGCTAAGGAGCATGGAAGGAGGAGAGGTTAGCCAAGGACACGAGGGGACAGC 49748046 49748216 NA NA NA NA NA NA GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCTTAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGCCGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG GCTGTCCCCTCGTGTCCTTGGCTAACCTCTCCTCCTTCCATGCTCCAGAGCGAGTGTTCTGTGCTGAGCGAGAATCTGGAGAGAAGGCGGCAAGAGGCAGAAGAGTTGGAGGGGTACTGCATTCAACTCAAGGTGAGCCAGTGGGACGCAGGAATGGATGGGGAGAGGGG control 78 103 0 0 0 287 272 0.00742524888355573 0.0365647688792267 0.0219950088813912 0.994829821471603 0.997756475860452 0.993340027562891 0.92281880883654 -0.994829821471603 -0.997756475860452 -0.985914778679336 -0.886254039957313 0.996293148666028 0.958079418199716 -0.996293148666028 -0.936084409318324 0.0602087393477031 TRUE TRUE NA NA NA NA NA TSKS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSKS NA NA NA ENSG00000126467 ENSE00000864528 NA NA NA NA NA NA NA 0.980813772290248 TRUE NA ENSE00000865703_000 ENSE00000865703 000 16 3729676 3729845 - 44 72 54 NA NA NA NA NA CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 NA NA NA NA NA NA CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT natural 12 44 0.997346000368666 0.894859023739057 0.946102512053861 527 437 0.984633402061679 0.924125891847847 0.954379646954763 0.997346000368666 0.894859023739057 0.984633402061679 0.924125891847847 0 0 0 0 0.946102512053861 0.954379646954763 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003683439 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000865703_033 ENSE00000865703 033 16 3729676 3729845 - 44 72 54 T A 3729793 237 53 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCTGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679791 3679792 3679792 upstr_intron -2 -0.0185185185185185 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCTGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant 61 85 0.85 0.85 0.85 78 54 0.8 0.86802259396347 0.834011296981735 0.997346000368666 0.894859023739057 0.984633402061679 0.924125891847847 -0.147346000368666 -0.0448590237390567 -0.184633402061679 -0.0561032978843776 0.946102512053861 0.954379646954763 -0.0961025120538613 -0.120368349973028 0.0242658379191669 FALSE FALSE 1 7.298 NA NA NA TRAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAP1 NA NA NA ENSG00000126602 ENSE00003683439 splice_acceptor_variant 5.542431 0.98952 0.99555 0.359288 0.994719523424822 0.976514 1.62037604789736e-17 FALSE 4.06537e-06 ENSE00000866318_000 ENSE00000866318 000 17 26913075 26913244 - 33 93 44 NA NA NA NA NA TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT 28586056 28586226 NA NA NA NA NA NA TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT natural 13 13 1 0.999579885533611 0.999789942766806 821 1753 0.840727584132497 0.663208629582839 0.751968106857668 1 0.999579885533611 0.840727584132497 0.663208629582839 0 0 0 0 0.999789942766806 0.751968106857668 0 0 0 FALSE FALSE NA NA NA NA NA SPAG5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPAG5 NA NA NA ENSG00000076382 ENSE00003704580 NA NA NA NA NA NA NA 7.25668525399221e-06 FALSE NA ENSE00000866966_000 ENSE00000866966 000 12 6950679 6950848 + 71 39 60 NA NA NA NA NA CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTCCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC 6841514 6841684 NA NA NA NA NA NA CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTCCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTCCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC natural 203 229 0.802690851547138 0.687784707239979 0.745237779393559 123 143 0.969752823281516 0.882501390660484 0.926127106971 0.802690851547138 0.687784707239979 0.969752823281516 0.882501390660484 0 0 0 0 0.745237779393559 0.926127106971 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GNB3 NA NA NA ENSG00000111664 ENSE00000866966 NA NA NA NA NA NA NA 6.50125510048293e-09 FALSE NA ENSE00000866966_011 ENSE00000866966 011 12 6950679 6950848 + 71 39 60 G A 6950774 473 96 GTCGGGGAGCTCCCTTCCCCTCCCCCCATGCCCTGCCTTCCGGGGGACAGGGGGTCTTACCTCTGCCAGAGTAATGTCAGCACAGGCTTTCCTGGCATCCTGCAGGGAAAGCAGACATCAGGGGAGCAAGGGCGAGGTGGGGGTGGCAGGTGCATGGGCCTTCAGGGCAG 6841514 6841684 6841609 6841610 6841610 exon -15 0.641025641025641 CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACATTACTCTGGCAGAGGTAAGACCCCCTGTCCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTCCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC mutant 43 36 0.85 0.85 0.85 NA NA NA NA NA 0.802690851547138 0.687784707239979 0.969752823281516 0.882501390660484 0.0473091484528616 0.162215292760021 NA NA 0.745237779393559 0.926127106971 0.104762220606441 NA NA NA FALSE 0.001 1.524 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:6841610 GNB3 HGNC Symbol protein_coding 7439 ENSG00000111664 ENSE00000866966 missense_variant 1.938374 0.74095 0.01532 0.634777 0.982669153315796 0 6.50125510048293e-09 FALSE 3.68816e-05 ENSE00000866966_017 ENSE00000866966 017 12 6950679 6950848 + 71 39 60 C G 6950803 479 125 CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTGCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC 6841514 6841684 6841638 6841639 6841639 downstr_intron 15 1.25423728813559 CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTGCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTCCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC mutant 13 13 0 0 0 NA NA NA NA NA 0.802690851547138 0.687784707239979 0.969752823281516 0.882501390660484 -0.802690851547138 -0.687784707239979 NA NA 0.745237779393559 0.926127106971 -0.745237779393559 NA NA NA TRUE 0 -0.152 NA NA NA LEPREL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:6841639 GNB3 HGNC Symbol protein_coding 7439 ENSG00000111664 ENSE00000866966 intron_variant -0.114552 0.18457 0.10115 0.069865 0.639577330643347 0.140398 6.50125510048293e-09 FALSE 4.20045e-06 ENSE00000866966_033 ENSE00000866966 033 12 6950679 6950848 + 71 39 60 G A 6950830 495 152 GTCGGGGAGCTCCCTTCCTCTCCCCCCATGCCCTGCCTTCCGGGGGACAGGGGGTCTTACCTCTGCCAGAGTAACGTCAGCACAGGCTTTCCTGGCATCCTGCAGGGAAAGCAGACATCAGGGGAGCAAGGGCGAGGTGGGGGTGGCAGGTGCATGGGCCTTCAGGGCAG 6841514 6841684 6841665 6841666 6841666 downstr_intron 42 1.71186440677966 CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTCCCCCGGAAGGCAGGGCATGGGGGGAGAGGAAGGGAGCTCCCCGAC CTGCCCTGAAGGCCCATGCACCTGCCACCCCCACCTCGCCCTTGCTCCCCTGATGTCTGCTTTCCCTGCAGGATGCCAGGAAAGCCTGTGCTGACGTTACTCTGGCAGAGGTAAGACCCCCTGTCCCCCGGAAGGCAGGGCATGGGGGGAGGGGAAGGGAGCTCCCCGAC mutant 12 14 0.85 0.85 0.85 NA NA NA NA NA 0.802690851547138 0.687784707239979 0.969752823281516 0.882501390660484 0.0473091484528616 0.162215292760021 NA NA 0.745237779393559 0.926127106971 0.104762220606441 NA NA NA FALSE 0 -0.243 . downstream_gene_variant MODIFIER LEPREL2 HGNC 19318 ENST00000290510 1 NA GGG G,A 4.945e-05 12:6841666 GNB3 HGNC Symbol protein_coding 7439 ENSG00000111664 ENSE00000866966 intron_variant 0.77958 0.15456 0.05658 0.069865 0.933503478894613 0.0674284 6.50125510048293e-09 FALSE 3.14437e-05 ENSE00000867029_000 ENSE00000867029 000 X 47464342 47464511 - 35 90 45 NA NA NA NA NA TTCCCTCCTGCCCACTCTATTTTCCCCAAACTCACCATTTCTTTGTGATTGGGGTAGAAGGTCTGATCAATTAGAGGGAATTCTTCTGTCCCCAGTTTCTTATGCAGTCGAACCATCTGGGCAAACTATGAGAACCAGGAGAGCTGGGTCAGTGAGTCCTTCACCACGAA 47604942 47605112 NA NA NA NA NA NA TTCGTGGTGAAGGACTCACTGACCCAGCTCTCCTGGTTCTCATAGTTTGCCCAGATGGTTCGACTGCATAAGAAACTGGGGACAGAAGAATTCCCTCTAATTGATCAGACCTTCTACCCCAATCACAAAGAAATGGTGAGTTTGGGGAAAATAGAGTGGGCAGGAGGGAA TTCGTGGTGAAGGACTCACTGACCCAGCTCTCCTGGTTCTCATAGTTTGCCCAGATGGTTCGACTGCATAAGAAACTGGGGACAGAAGAATTCCCTCTAATTGATCAGACCTTCTACCCCAATCACAAAGAAATGGTGAGTTTGGGGAAAATAGAGTGGGCAGGAGGGAA natural 35 42 0.85 0.697932864910186 0.773966432455093 452 667 0.940400030569751 0.953548335504909 0.94697418303733 0.85 0.697932864910186 0.940400030569751 0.953548335504909 0 0 0 0 0.773966432455093 0.94697418303733 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00000867029 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00000867338_000 ENSE00000867338 000 14 56133914 56134083 + 45 90 35 NA NA NA NA NA ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 NA NA NA NA NA NA ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC natural 68 103 0.841897015506064 0.85 0.845948507753032 3682 5763 0.846365472476838 0.821241308428358 0.833803390452598 0.841897015506064 0.85 0.846365472476838 0.821241308428358 0 0 0 0 0.845948507753032 0.833803390452598 0 0 0 FALSE FALSE NA NA NA NA NA KTN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KTN1 NA NA NA ENSG00000126777 ENSE00003605641 NA NA NA NA NA NA NA 0.639772920815945 FALSE NA ENSE00000867338_003 ENSE00000867338 003 14 56133914 56134083 + 45 90 35 G C 56133940 446 27 ATTCTGTGATCTTGTAAGTTTGATTTCGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667221 55667222 55667222 upstr_intron -19 -0.4 ATTCTGTGATCTTGTAAGTTTGATTTCGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 291 177 1 0.999105430734712 0.999552715367356 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA 0.153634527523162 0.177864122306354 0.845948507753032 0.833803390452598 NA 0.165749324914758 NA FALSE NA 0.25 0.86 . intron_variant MODIFIER KTN1 HGNC 6467 ENST00000395308 33/42 rs556747354 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGG G,C 8.237e-06 14:55667222 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 intron_variant 1.52999 0.88789 0.17583 0.262962 0.859254311971893 0.114163 0.639772920815945 FALSE 4.51863e-06 ENSE00000867338_005 ENSE00000867338 005 14 56133914 56134083 + 45 90 35 C T 56133942 448 29 ATTCTGTGATCTTGTAAGTTTGATTTGGTTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667223 55667224 55667224 upstr_intron -17 -0.355555555555556 ATTCTGTGATCTTGTAAGTTTGATTTGGTTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 36 3832 0.937456971186003 0.966049068883318 0.951753020034661 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA 0.0910914987091656 0.14480776045496 0.845948507753032 0.833803390452598 NA 0.117949629582063 NA FALSE NA 0 0.319 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:55667224 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 intron_variant 1.914737 0.41032 0.00313 0.262962 0.817024997276271 0.113768 0.639772920815945 FALSE 0.347269 ENSE00000867338_006 ENSE00000867338 006 14 56133914 56134083 + 45 90 35 C G 56133942 449 29 ATTCTGTGATCTTGTAAGTTTGATTTGGGTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667223 55667224 55667224 upstr_intron -17 -0.355555555555556 ATTCTGTGATCTTGTAAGTTTGATTTGGGTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 566 436 0.911791961009478 0.871731020331539 0.891761490670508 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA 0.0654264885326399 0.0504897119031815 0.845948507753032 0.833803390452598 NA 0.0579581002179107 NA FALSE NA 0 0.319 NA NA NA KTN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KTN1 NA NA NA ENSG00000126777 ENSE00003605641 intron_variant 1.839976 0.68665 0.05092 0.262962 0.873567272337943 0.113768 0.639772920815945 FALSE 0.000391089 ENSE00000867338_007 ENSE00000867338 007 14 56133914 56134083 + 45 90 35 C T 56133950 450 37 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTTTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667231 55667232 55667232 upstr_intron -9 -0.177777777777778 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTTTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 21 485 0.998023669907359 0.999921494017368 0.998972581962363 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA 0.151658197430522 0.17868018558901 0.845948507753032 0.833803390452598 NA 0.165169191509766 NA FALSE NA 0.984 0.839 . intron_variant MODIFIER KTN1 HGNC 6467 ENST00000395308 33/42 rs377597706 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TCT C,T 4.942e-05 14:55667232 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 intron_variant 2.13572 0.82499 0.20244 0.262962 0.654630219563672 0.164629 0.639772920815945 FALSE 1.32225e-05 ENSE00000867338_008 ENSE00000867338 008 14 56133914 56134083 + 45 90 35 A G 56133962 451 49 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAGGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667243 55667244 55667244 exon 4 0.0444444444444444 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAGGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 116 28 0.764222169445635 0.8 0.782111084722818 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA -0.0821433030312025 -0.0212413084283578 0.845948507753032 0.833803390452598 NA -0.0516923057297802 NA FALSE NA 1 3.197 . missense_variant MODERATE KTN1 HGNC 6467 ENST00000395308 34/43 rs528750103 1 tolerated(0.09) benign(0.197) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAG A,G 0.00028 14:55667244 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 missense_variant 2.892534 0.97606 0.89167 0.732398 0.996639347573314 0 0.639772920815945 FALSE 0.00022913 ENSE00000867338_009 ENSE00000867338 009 14 56133914 56134083 + 45 90 35 A C 56133978 452 65 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGCAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667259 55667260 55667260 exon 20 0.222222222222222 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGCAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 525 858 0.8 0.800294689903028 0.800147344951514 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA -0.0463654724768378 -0.0209466185253302 0.845948507753032 0.833803390452598 NA -0.033656045501084 NA FALSE NA 1 3.371 . missense_variant MODERATE KTN1 HGNC 6467 ENST00000395308 34/43 1 tolerated(0.18) benign(0.024) NA GAA A,C 8.237e-06 14:55667260 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 missense_variant 4.300506 0.98552 0.93421 0.732398 0.996155569074557 0 0.639772920815945 FALSE 4.15096e-06 ENSE00000867338_012 ENSE00000867338 012 14 56133914 56134083 + 45 90 35 C T 56133996 455 83 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGTTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667277 55667278 55667278 exon 38 0.422222222222222 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGTTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 44 48 0.753254226735203 0.8 0.776627113367601 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA -0.093111245741635 -0.0212413084283578 0.845948507753032 0.833803390452598 NA -0.0571762770849964 NA FALSE NA 1 2.6 . missense_variant MODERATE KTN1 HGNC 6467 ENST00000395308 34/43 1 deleterious(0.03) possibly_damaging(0.46) NA GCT C,T 8.236e-06 14:55667278 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 missense_variant 5.347783 0.97919 0.84782 0.732398 0.997923212133367 0 0.639772920815945 FALSE 4.1322e-06 ENSE00000867338_013 ENSE00000867338 013 14 56133914 56134083 + 45 90 35 A G 56134003 456 90 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAGGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667284 55667285 55667285 exon 45 0.5 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAGGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 5061 393 0.06492174595767 0.00469093713476394 0.034806341546217 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA -0.781443726519168 -0.816550371293594 0.845948507753032 0.833803390452598 NA -0.798997048906381 NA TRUE NA 0.982 0.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:55667285 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 synonymous_variant 0.878248 0.95858 0.48451 0.732398 0.613259415515968 0 0.639772920815945 FALSE 1.23781e-05 ENSE00000867338_014 ENSE00000867338 014 14 56133914 56134083 + 45 90 35 A C 56134003 457 90 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGACGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667284 55667285 55667285 exon 45 0.5 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGACGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 2907 439 0.784008330828059 0.8 0.792004165414029 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA -0.062357141648779 -0.0212413084283578 0.845948507753032 0.833803390452598 NA -0.0417992250385684 NA FALSE NA 0.982 0.092 NA NA NA KTN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KTN1 NA NA NA ENSG00000126777 ENSE00003605641 missense_variant 1.025852 0.96182 0.60092 0.732398 0.961165295533738 0 0.639772920815945 FALSE 4.12603e-06 ENSE00000867338_016 ENSE00000867338 016 14 56133914 56134083 + 45 90 35 A G 56134011 459 98 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAGAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667292 55667293 55667293 exon -38 0.588888888888889 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAGAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 272 362 0.815866963716713 0.999894801719651 0.907880882718182 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA -0.0304985087601249 0.178653493291293 0.845948507753032 0.833803390452598 NA 0.0740774922655841 NA FALSE NA 1 3.43 . missense_variant MODERATE KTN1 HGNC 6467 ENST00000395308 34/43 1 tolerated(0.47) benign(0.009) NA AAA A,G 3.295e-05 14:55667293 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 missense_variant 1.924236 0.96321 0.88352 0.732398 0.861295506474705 0 0.639772920815945 FALSE 2.47535e-05 ENSE00000867338_017 ENSE00000867338 017 14 56133914 56134083 + 45 90 35 A G 56134018 460 105 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTGTTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667299 55667300 55667300 exon -31 0.666666666666667 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTGTTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 746 670 0.977625362763477 0.968420299984533 0.973022831374005 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA 0.131259890286639 0.147178991556175 0.845948507753032 0.833803390452598 NA 0.139219440921407 NA FALSE NA 0.997 0.248 . synonymous_variant LOW KTN1 HGNC 6467 ENST00000395308 34/43 1 NA TAT A,G 8.237e-06 14:55667300 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 synonymous_variant 1.613641 0.95545 0.40746 0.732398 0.755644837250658 0 0.639772920815945 FALSE NA ENSE00000867338_018 ENSE00000867338 018 14 56133914 56134083 + 45 90 35 A G 56134025 461 112 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAGAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667306 55667307 55667307 exon -24 0.744444444444444 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAGAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 705 1022 1 0.993415999973936 0.996707999986968 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA 0.153634527523162 0.172174691545578 0.845948507753032 0.833803390452598 NA 0.16290460953437 NA FALSE NA 0.004 1.127 . missense_variant MODERATE KTN1 HGNC 6467 ENST00000395308 34/43 rs200757675 1 tolerated(0.77) benign(0.082) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAA A,G 3.295e-05 14:55667307 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 missense_variant 0.497311 0.23083 0.05161 0.732398 0.58286626191402 0 0.639772920815945 FALSE 1.65829e-05 ENSE00000867338_021 ENSE00000867338 021 14 56133914 56134083 + 45 90 35 C T 56134036 464 123 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTTCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667317 55667318 55667318 exon -13 0.866666666666667 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTTCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 395 429 0.971066091479743 0.973415095506786 0.972240593493265 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA 0.124700619002905 0.152173787078428 0.845948507753032 0.833803390452598 NA 0.138437203040667 NA FALSE NA 0.004 -2.224 rs144185879 synonymous_variant LOW KTN1 HGNC 6467 ENST00000395308 34/43 rs144185879&COSM3496469 1 NA T:0 T:0.0001 TCC C,T 8.237e-06 14:55667318 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 synonymous_variant 2.458629 0.85665 0.01778 0.732398 0.650140964542059 0 0.639772920815945 FALSE 4.21415e-06 ENSE00000867338_022 ENSE00000867338 022 14 56133914 56134083 + 45 90 35 C G 56134038 465 125 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCGTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 55667319 55667320 55667320 exon -11 0.888888888888889 ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCGTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC mutant NA NA NA NA NA 77 100 0.95 0.936023510876749 0.943011755438374 0.841897015506064 0.85 0.846365472476838 0.821241308428358 NA NA 0.103634527523162 0.114782202448391 0.845948507753032 0.833803390452598 NA 0.109208364985777 NA FALSE NA 0.999 5.061 . missense_variant MODERATE KTN1 HGNC 6467 ENST00000395308 34/43 1 deleterious(0) possibly_damaging(0.739) NA CCT C,G 1.648e-05 14:55667320 KTN1 HGNC Symbol protein_coding 142454 ENSG00000126777 ENSE00003605641 missense_variant 5.034204 0.98791 0.96029 0.732398 0.998002611195309 0 0.639772920815945 FALSE 1.27689e-05 ENSE00000867338_BRK ENSE00000867338 BRK 14 56133914 56134083 + 45 90 35 A,G; T,T NA NA NA ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTTTGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGCCAAGACTAATTTATTATTTTTTTAACATGATGAC 55667195 55667365 NA NA NA NA NA NA ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTTTGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGCCAAGACTAATTTATTATTTTTTTAACATGATGAC ATTCTGTGATCTTGTAAGTTTGATTTGGCTCATCTTCTGCTTTAGGAAAGGCAGCAACAGGTGGAAGCTGTTGAGTTGGAGGCTAAAGAAGTTCTCAAAAAATTATTTCCAAAGGTGTCTGTCCCTTCTAATTTGGTAAGACTAATTTATTATTTTTTTAACATGATGAC control 70 13 0 0 0 2029 316 0.0035725134978278 0.00262004745483451 0.00309628047633115 0.841897015506064 0.85 0.846365472476838 0.821241308428358 -0.841897015506064 -0.85 -0.84279295897901 -0.818621260973523 0.845948507753032 0.833803390452598 -0.845948507753032 -0.830707109976267 0.0152413977767651 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KTN1 NA NA NA ENSG00000126777 ENSE00003605641 NA NA NA NA NA NA NA 0.639772920815945 FALSE NA ENSE00000867542_000 ENSE00000867542 000 14 63749797 63749966 + 42 96 32 NA NA NA NA NA CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT 63283078 63283248 NA NA NA NA NA NA CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT natural 41 48 0.968136132633639 0.972005463291872 0.970070797962756 8399 5583 0.882722521616752 0.962615493680288 0.92266900764852 0.968136132633639 0.972005463291872 0.882722521616752 0.962615493680288 0 0 0 0 0.970070797962756 0.92266900764852 0 0 0 FALSE FALSE NA NA NA NA NA RHOJ NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RHOJ NA NA NA ENSG00000126785 ENSE00000867542 NA NA NA NA NA NA NA 0.229657760958795 FALSE NA ENSE00000867542_010 ENSE00000867542 010 14 63749797 63749966 + 42 96 32 G A 63749868 501 72 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTAGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT 63283078 63283248 63283149 63283150 63283150 exon 30 0.3125 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTAGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT mutant 14 27 0.85 0.85 0.85 NA NA NA NA NA 0.968136132633639 0.972005463291872 0.882722521616752 0.962615493680288 -0.118136132633639 -0.122005463291872 NA NA 0.970070797962756 0.92266900764852 -0.120070797962755 NA NA NA FALSE 1 4.798 . synonymous_variant LOW RHOJ HGNC 688 ENST00000316754 4/5 rs377266290 1 NA A:0 A:0.0001 TGG G,A 3.295e-05 14:63283150 RHOJ HGNC Symbol protein_coding 89105 ENSG00000126785 ENSE00000867542 synonymous_variant 1.018915 0.95244 0.8974 0.706548 0.78573746760796 0 0.229657760958795 FALSE 2.03356e-05 ENSE00000867542_012 ENSE00000867542 012 14 63749797 63749966 + 42 96 32 G A 63749873 503 77 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCATTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT 63283078 63283248 63283154 63283155 63283155 exon 35 0.364583333333333 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCATTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT mutant 78 126 0.85 0.85 0.85 NA NA NA NA NA 0.968136132633639 0.972005463291872 0.882722521616752 0.962615493680288 -0.118136132633639 -0.122005463291872 NA NA 0.970070797962756 0.92266900764852 -0.120070797962756 NA NA NA FALSE 1 7.139 . missense_variant MODERATE RHOJ HGNC 688 ENST00000316754 4/5 rs370791329 1 deleterious(0.01) possibly_damaging(0.838) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0001 CGT G,A 2.471e-05 14:63283155 RHOJ HGNC Symbol protein_coding 89105 ENSG00000126785 ENSE00000867542 missense_variant 6.259692 0.96142 0.91871 0.706548 0.99951235158406 0 0.229657760958795 FALSE 1.62705e-05 ENSE00000867542_016 ENSE00000867542 016 14 63749797 63749966 + 42 96 32 C G 63749899 507 103 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTGTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT 63283078 63283248 63283180 63283181 63283181 exon -36 0.635416666666667 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTGTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT mutant NA NA NA NA NA 328 40 0.990039963748286 1 0.995019981874143 0.968136132633639 0.972005463291872 0.882722521616752 0.962615493680288 NA NA 0.107317442131534 0.037384506319712 0.970070797962756 0.92266900764852 NA 0.072350974225623 NA FALSE NA 1 4.404 . missense_variant MODERATE RHOJ HGNC 688 ENST00000316754 4/5 1 tolerated(0.37) benign(0.052) NA TCT C,G 1.647e-05 14:63283181 RHOJ HGNC Symbol protein_coding 89105 ENSG00000126785 ENSE00000867542 missense_variant 1.657152 0.945 0.88208 0.706548 0.985711880295515 0 0.229657760958795 FALSE 1.62718e-05 ENSE00000867542_020 ENSE00000867542 020 14 63749797 63749966 + 42 96 32 G C 63749908 511 112 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACCAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT 63283078 63283248 63283189 63283190 63283190 exon -27 0.729166666666667 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACCAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT mutant NA NA NA NA NA 282 102 1 0.996886213457703 0.998443106728851 0.968136132633639 0.972005463291872 0.882722521616752 0.962615493680288 NA NA 0.117277478383248 0.0342707197774148 0.970070797962756 0.92266900764852 NA 0.0757740990803314 NA FALSE NA 1 7.33 NA NA NA RHOJ NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:63283190 RHOJ HGNC Symbol protein_coding 89105 ENSG00000126785 ENSE00000867542 missense_variant 3.276167 0.96143 0.93774 0.706548 0.998573912918575 0 0.229657760958795 FALSE 8.13921e-06 ENSE00000867542_023 ENSE00000867542 023 14 63749797 63749966 + 42 96 32 A C 63749928 514 132 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCCAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT 63283078 63283248 63283209 63283210 63283210 exon -7 0.9375 CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCCAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT mutant NA NA NA NA NA 152 39 1 1 1 0.968136132633639 0.972005463291872 0.882722521616752 0.962615493680288 NA NA 0.117277478383248 0.037384506319712 0.970070797962756 0.92266900764852 NA 0.0773309923514801 NA FALSE NA 0.002 -1.887 rs138048154 synonymous_variant LOW RHOJ HGNC 688 ENST00000316754 4/5 1 NA CAA A,C 1.647e-05 14:63283210 RHOJ HGNC Symbol protein_coding 89105 ENSG00000126785 ENSE00000867542 synonymous_variant 0.298042 0.66382 0.16255 0.706548 0.568863650353808 0 0.229657760958795 FALSE 1.2221e-05 ENSE00000867542_BRK ENSE00000867542 BRK 14 63749797 63749966 + 42 96 32 A,G; T,T NA NA NA CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCTTATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGCCACAGTCAGATTTGAATTTCATTTTAAATGT 63283078 63283248 NA NA NA NA NA NA CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCTTATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGCCACAGTCAGATTTGAATTTCATTTTAAATGT CCTGAGAAAACAAATAAGTTTTCACGTGTGTTTTCTTGCCAGATTGATCTCCGTGATGACCCAAAAACCTTGGCCCGTTTGCTGTATATGAAAGAGAAACCTCTCACTTACGAGCATGGTGTGAAGCTCGCAAAAGCGGTACAGTCAGATTTGAATTTCATTTTAAATGT control 97 159 0 0 0 NA NA NA NA NA 0.968136132633639 0.972005463291872 0.882722521616752 0.962615493680288 -0.968136132633639 -0.972005463291872 NA NA 0.970070797962756 0.92266900764852 -0.970070797962756 NA NA NA TRUE NA NA NA NA NA RHOJ NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RHOJ NA NA NA ENSG00000126785 ENSE00000867542 NA NA NA NA NA NA NA 0.229657760958795 FALSE NA ENSE00000868110_000 ENSE00000868110 000 9 133493143 133493312 + 41 99 30 NA NA NA NA NA TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 NA NA NA NA NA NA TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC natural 71 97 0.989037364946956 0.958624584234546 0.973830974590751 3362 4822 0.973443746277424 0.925441862477822 0.949442804377623 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 0 0 0 0 0.973830974590751 0.949442804377623 0 0 0 FALSE FALSE NA NA NA NA NA FUBP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FUBP3 NA NA NA ENSG00000107164 ENSE00000868110 NA NA NA NA NA NA NA 0.86267942485269 FALSE NA ENSE00000868110_001 ENSE00000868110 001 9 133493143 133493312 + 41 99 30 G A 133493157 3144 15 TGCATTATTCATGAAGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617769 130617770 130617770 upstr_intron -27 -0.634146341463415 TGCATTATTCATGAAGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 780 603 0.993542577059963 1 0.996771288529982 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.0200988307825392 0.0745581375221777 0.973830974590751 0.949442804377623 NA 0.0473284841523584 NA FALSE NA 0.004 0.91 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 rs201671553 1 A:0.0006 A:0 A:0.0014 NA A:0 A:0.002 A:0 A:0 A:0.0001 AGG G,A 0.0002311 9:130617770 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 intron_variant 0.274652 0.18288 0.03255 0.115753 0.700976227236268 0.103334 0.86267942485269 FALSE 0.000312932 ENSE00000868110_003 ENSE00000868110 003 9 133493143 133493312 + 41 99 30 G A 133493161 3146 19 TGCATTATTCATGAGGCTATGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617773 130617774 130617774 upstr_intron -23 -0.536585365853659 TGCATTATTCATGAGGCTATGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 522 1084 0.997610573380483 1 0.998805286690241 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.0241668271030585 0.0745581375221777 0.973830974590751 0.949442804377623 NA 0.0493624823126181 NA FALSE NA 0.002 0.014 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 1 NA TGT G,A 8.254e-06 9:130617774 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 intron_variant 0.207439 0.1419 0.07848 0.256867 0.751328866119693 0.060327 0.86267942485269 FALSE 4.06372e-06 ENSE00000868110_004 ENSE00000868110 004 9 133493143 133493312 + 41 99 30 G C 133493166 3147 24 TGCATTATTCATGAGGCTGTGCTCGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617778 130617779 130617779 upstr_intron -18 -0.414634146341463 TGCATTATTCATGAGGCTGTGCTCGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 28 631 1 0.999272957548985 0.999636478774492 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.026556253722576 0.0738310950711625 0.973830974590751 0.949442804377623 NA 0.0501936743968692 NA FALSE NA 0 -0.107 rs182546437 upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 rs182546437 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 C:0.0005 C:0.0001 TGG G,C 6.603e-05 9:130617779 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 intron_variant 0.006535 0.20338 0.05609 0.256867 0.579947472218549 0.060327 0.86267942485269 FALSE 0.000101582 ENSE00000868110_005 ENSE00000868110 005 9 133493143 133493312 + 41 99 30 T G 133493175 3148 33 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTGCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617787 130617788 130617788 upstr_intron -9 -0.195121951219512 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTGCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 617 523 0.99939815618324 0.855931623686939 0.927664889935089 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.0259544099058158 -0.0695102387908836 0.973830974590751 0.949442804377623 NA -0.0217779144425339 NA FALSE NA 0.945 0.057 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 rs200919787 1 NA TTC T,G 0.0006689 9:130617788 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 intron_variant 2.208476 0.86776 0.70319 0.256867 0.770565173081447 0.358218 0.86267942485269 FALSE 0.00067455 ENSE00000868110_006 ENSE00000868110 006 9 133493143 133493312 + 41 99 30 C T 133493187 3149 45 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGTGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617799 130617800 130617800 exon 4 0.0404040404040404 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGTGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 291 264 1 0.996613994527616 0.998306997263808 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.026556253722576 0.0711721320497934 0.973830974590751 0.949442804377623 NA 0.0488641928861847 NA FALSE NA 1 2.317 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 1 NA GCG C,T 1.652e-05 9:130617800 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 missense_variant 8.09364 0.98933 0.96728 0.706548 0.999216703496387 0 0.86267942485269 FALSE 2.03224e-05 ENSE00000868110_007 ENSE00000868110 007 9 133493143 133493312 + 41 99 30 G A 133493193 3150 51 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAAGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617805 130617806 130617806 exon 10 0.101010101010101 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAAGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 305 162 0.856153973054474 1 0.928076986527237 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA -0.11728977322295 0.0745581375221777 0.973830974590751 0.949442804377623 NA -0.0213658178503859 NA FALSE NA 1 7.933 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 1 NA AGG G,A 8.258e-06 9:130617806 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 missense_variant 6.65985 0.99337 0.99352 0.706548 0.999192254096953 0 0.86267942485269 FALSE 4.06438e-06 ENSE00000868110_008 ENSE00000868110 008 9 133493143 133493312 + 41 99 30 G A 133493195 3151 53 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGAGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617807 130617808 130617808 exon 12 0.121212121212121 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGAGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 476 795 0.995714067560923 1 0.997857033780461 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.0222703212834985 0.0745581375221777 0.973830974590751 0.949442804377623 NA 0.0484142294028381 NA FALSE NA 0.002 -1.173 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 rs369349445 1 NA A:0.0002 A:0 GGG G,A 6.607e-05 9:130617808 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 synonymous_variant 0.906994 0.95482 0.20905 0.706548 0.732116165414204 0 0.86267942485269 FALSE 4.47133e-05 ENSE00000868110_009 ENSE00000868110 009 9 133493143 133493312 + 41 99 30 G A 133493234 3152 92 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACAGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617846 130617847 130617847 exon -49 0.515151515151515 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACAGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 583 225 0.998651034900027 1 0.999325517450014 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.0252072886226031 0.0745581375221777 0.973830974590751 0.949442804377623 NA 0.0498827130723904 NA FALSE NA 0.238 -0.422 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 1 NA CGG G,A 6.612e-05 9:130617847 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 synonymous_variant 1.946749 0.882 0.28567 0.706548 0.666186008525695 0 0.86267942485269 FALSE 5.29213e-05 ENSE00000868110_011 ENSE00000868110 011 9 133493143 133493312 + 41 99 30 C A 133493239 3154 97 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGAAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617851 130617852 130617852 exon -44 0.565656565656566 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGAAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 903 168 0.996544910588063 1 0.998272455294032 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.023101164310639 0.0745581375221777 0.973830974590751 0.949442804377623 NA 0.0488296509164083 NA FALSE NA 1 6.053 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 1 NA GCA C,A 4.133e-05 9:130617852 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 missense_variant 4.204811 0.99264 0.98793 0.706548 0.965376345466274 0 0.86267942485269 FALSE 3.66808e-05 ENSE00000868110_014 ENSE00000868110 014 9 133493143 133493312 + 41 99 30 T C 133493292 3157 150 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGCGCCATGGGTTGGGTGAGTCC 130617755 130617925 130617904 130617905 130617905 downstr_intron 10 1.3448275862069 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGCGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 204 764 0.990028603362693 1 0.995014301681347 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.0165848570852691 0.0745581375221777 0.973830974590751 0.949442804377623 NA 0.0455714973037234 NA FALSE NA 0 -0.401 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 1 NA GTG T,C 8.267e-06 9:130617905 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 intron_variant 0.148475 0.2178 0.01565 0.099367 0.584431289539281 0.0560343 0.86267942485269 FALSE NA ENSE00000868110_015 ENSE00000868110 015 9 133493143 133493312 + 41 99 30 G C 133493293 3158 151 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTCCCATGGGTTGGGTGAGTCC 130617755 130617925 130617905 130617906 130617906 downstr_intron 11 1.37931034482759 TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTCCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC mutant NA NA NA NA NA 269 112 0.998769637347326 1 0.999384818673663 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 NA NA 0.025325891069902 0.0745581375221777 0.973830974590751 0.949442804377623 NA 0.0499420142960398 NA FALSE NA 0 -0.543 . upstream_gene_variant MODIFIER FUBP3 HGNC 4005 ENST00000487406 rs375054207 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0015 C:0 TGC G,C 9.92e-05 9:130617906 FUBP3 HGNC Symbol protein_coding 59387 ENSG00000107164 ENSE00000868110 intron_variant -0.191888 0.20368 0.01266 0.099367 0.547793112980732 0.0484599 0.86267942485269 FALSE 6.91946e-05 ENSE00000868110_BRK ENSE00000868110 BRK 9 133493143 133493312 + 41 99 30 A,G; T,T NA NA NA TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACTTGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGCCAGGAAAGTGCCATGGGTTGGGTGAGTCC 130617755 130617925 NA NA NA NA NA NA TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACTTGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGCCAGGAAAGTGCCATGGGTTGGGTGAGTCC TGCATTATTCATGAGGCTGTGCTGGTGTGTGTTCCCCACAGGAGCGGACAGGGGTGAAGATGGTCATGATCCAGGATGGCCCATTGCCCACGGGAGCAGACAAGCCTCTTCGTATCACTGGAGATGCATTTAAAGTACAGGTAGGAAAGTGCCATGGGTTGGGTGAGTCC control 53 27 0 0 0 929 389 0.00521947946108128 0.0498972947688877 0.0275583871149845 0.989037364946956 0.958624584234546 0.973443746277424 0.925441862477822 -0.989037364946956 -0.958624584234546 -0.968224266816343 -0.875544567708935 0.973830974590751 0.949442804377623 -0.973830974590751 -0.921884417262639 0.0519465573281125 TRUE TRUE NA NA NA NA NA FUBP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FUBP3 NA NA NA ENSG00000107164 ENSE00000868110 NA NA NA NA NA NA NA 0.86267942485269 FALSE NA ENSE00000869761_000 ENSE00000869761 000 1 10428471 10428640 + 54 72 44 NA NA NA NA NA CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 NA NA NA NA NA NA CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG natural 47 40 0.99756357463126 0.994765561770049 0.996164568200654 3353 5118 0.961656626567762 0.99391738135995 0.977787003963856 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 0 0 0 0 0.996164568200654 0.977787003963856 0 0 0 FALSE FALSE NA NA NA NA NA KIF1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF1B NA NA NA ENSG00000054523 ENSE00000869761 NA NA NA NA NA NA NA 0.999999999958917 TRUE NA ENSE00000869761_001 ENSE00000869761 001 1 10428471 10428640 + 54 72 44 A G 10428486 211 16 CTCCTGGCTGTTGACGTTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368427 10368428 10368428 upstr_intron -39 -0.703703703703704 CTCCTGGCTGTTGACGTTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 177 145 0.999133106270654 1 0.999566553135327 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.0374764797028916 0.00608261864005 0.996164568200654 0.977787003963856 NA 0.0217795491714708 NA FALSE NA 0 0.097 rs147584083 intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 42/47 rs147584083 1 G:0.0008 G:0 G:0 NA G:0.004 G:0 G:0 CAT A,G 8.236e-05 1:10368428 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 intron_variant -0.186565 0.08652 0.00366 0.099367 0.281193426578979 0.0511531 0.999999999958917 TRUE 8.55892e-05 ENSE00000869761_005 ENSE00000869761 005 1 10428471 10428640 + 54 72 44 C T 10428503 215 33 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGTACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368444 10368445 10368445 upstr_intron -22 -0.388888888888889 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGTACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 368 93 0.967206873119043 1 0.983603436559522 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.00555024655128122 0.00608261864005 0.996164568200654 0.977787003963856 NA 0.00581643259566561 NA FALSE NA 0 -0.818 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 42/47 1 NA GCA C,T 8.236e-06 1:10368445 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 intron_variant 0.370802 0.19302 0.03406 0.099367 0.620738759960003 0.0511531 0.999999999958917 TRUE 8.13286e-06 ENSE00000869761_007 ENSE00000869761 007 1 10428471 10428640 + 54 72 44 C A 10428505 217 35 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCAATTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368446 10368447 10368447 upstr_intron -20 -0.351851851851852 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCAATTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 733 102 0.849459296186165 1 0.924729648093083 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA -0.112197330381597 0.00608261864005 0.996164568200654 0.977787003963856 NA -0.0530573558707733 NA FALSE NA 0 0.027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:10368447 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 intron_variant -0.000662 0.2678 0.05804 0.099367 0.512483750535079 0.0511531 0.999999999958917 TRUE 0.00107335 ENSE00000869761_008 ENSE00000869761 008 1 10428471 10428640 + 54 72 44 C T 10428505 218 35 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCATTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368446 10368447 10368447 upstr_intron -20 -0.351851851851852 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCATTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 19 89 1 1 1 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.038343373432238 0.00608261864005 0.996164568200654 0.977787003963856 NA 0.022212996036144 NA FALSE NA 0 0.027 NA NA NA KIF1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF1B NA NA NA ENSG00000054523 ENSE00000869761 intron_variant -0.047412 0.1862 0.01108 0.099367 0.492786507378159 0.0511531 0.999999999958917 TRUE 4.0657e-06 ENSE00000869761_009 ENSE00000869761 009 1 10428471 10428640 + 54 72 44 T G 10428509 219 39 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCGCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368450 10368451 10368451 upstr_intron -16 -0.277777777777778 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCGCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 1112 43 0.997758097790573 0.985756353409034 0.991757225599803 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.0361014712228112 -0.00816102795091644 0.996164568200654 0.977787003963856 NA 0.0139702216359474 NA FALSE NA 0 -0.067 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 42/47 1 NA CTC T,G 8.236e-06 1:10368451 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 intron_variant 0.219372 0.24268 0.02093 0.099367 0.583765549423569 0.0428995 0.999999999958917 TRUE 4.06448e-06 ENSE00000869761_010 ENSE00000869761 010 1 10428471 10428640 + 54 72 44 C T 10428516 220 46 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTTTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368457 10368458 10368458 upstr_intron -9 -0.148148148148148 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTTTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 96 2481 1 0.999936249529351 0.999968124764675 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.038343373432238 0.006018868169401 0.996164568200654 0.977787003963856 NA 0.0221811208008195 NA FALSE NA 0.001 0.068 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 42/47 rs375366137 1 NA T:0.0005 T:0.0002 TCT C,T 0.0001483 1:10368458 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 intron_variant 1.060767 0.3736 0.21865 0.099367 0.769469051601163 0.0838242 0.999999999958917 TRUE 0.000178754 ENSE00000869761_012 ENSE00000869761 012 1 10428471 10428640 + 54 72 44 T A 10428548 222 78 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACATTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368489 10368490 10368490 exon 24 0.333333333333333 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACATTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 238 351 0.998783278511862 1 0.999391639255931 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.0371266519440996 0.00608261864005 0.996164568200654 0.977787003963856 NA 0.0216046352920748 NA FALSE NA 0.556 -0.181 . synonymous_variant LOW KIF1B HGNC 16636 ENST00000377081 43/48 1 NA CTT T,A 8.236e-06 1:10368490 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 synonymous_variant 1.782151 0.95803 0.68563 0.706548 0.718477514841989 0 0.999999999958917 TRUE 8.12183e-06 ENSE00000869761_013 ENSE00000869761 013 1 10428471 10428640 + 54 72 44 C G 10428551 223 81 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTGAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368492 10368493 10368493 exon 27 0.375 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTGAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 1122 1125 0.954201463640245 1 0.977100731820122 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA -0.00745516292751736 0.00608261864005 0.996164568200654 0.977787003963856 NA -0.000686272143733679 NA FALSE NA 1 4.027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:10368493 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 missense_variant 5.367286 0.99053 0.98514 0.706548 0.996530188057442 0 0.999999999958917 TRUE 2.43661e-05 ENSE00000869761_014 ENSE00000869761 014 1 10428471 10428640 + 54 72 44 C A 10428551 224 81 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTAAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368492 10368493 10368493 exon 27 0.375 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTAAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 467 484 0.999671703941702 0.998491899156755 0.999081801549229 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.0380150773739405 0.00457451779680496 0.996164568200654 0.977787003963856 NA 0.0212947975853727 NA FALSE NA 1 4.027 NA NA NA KIF1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF1B NA NA NA ENSG00000054523 ENSE00000869761 missense_variant 5.653103 0.99041 0.98424 0.706548 0.996747437388408 0 0.999999999958917 TRUE 4.06101e-06 ENSE00000869761_015 ENSE00000869761 015 1 10428471 10428640 + 54 72 44 G A 10428570 225 100 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGATGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368511 10368512 10368512 exon -27 0.638888888888889 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGATGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 353 69 0.996928859209074 1 0.998464429604537 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.0352722326413124 0.00608261864005 0.996164568200654 0.977787003963856 NA 0.0206774256406812 NA FALSE NA 1 2.691 rs77172218 missense_variant MODERATE KIF1B HGNC 16636 ENST00000377081 43/48 rs77172218 1 tolerated(0.13) benign(0.064) A:0.0044 A:0 A:0.0029 NA A:0 A:0.0159 A:0.0041 A:0.0018 A:0.0169 GGT G,A 0.01 1:10368512 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 missense_variant 3.269016 0.98895 0.95503 0.706548 0.975603882236545 0 0.999999999958917 TRUE 0.00999001 ENSE00000869761_016 ENSE00000869761 016 1 10428471 10428640 + 54 72 44 C T 10428575 226 105 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCATGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368516 10368517 10368517 exon -22 0.708333333333333 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCATGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 344 2740 1 0.994715133105849 0.997357566552924 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.038343373432238 0.000797751745898911 0.996164568200654 0.977787003963856 NA 0.0195705625890685 NA FALSE NA 0.813 -0.042 . synonymous_variant LOW KIF1B HGNC 16636 ENST00000377081 43/48 1 NA ACG C,T 7.413e-05 1:10368517 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 synonymous_variant 1.724667 0.96756 0.75616 0.706548 0.48050694210413 0 0.999999999958917 TRUE 4.46686e-05 ENSE00000869761_018 ENSE00000869761 018 1 10428471 10428640 + 54 72 44 G A 10428582 228 112 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCATCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368523 10368524 10368524 exon -15 0.805555555555556 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCATCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 119 37 1 1 1 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.038343373432238 0.00608261864005 0.996164568200654 0.977787003963856 NA 0.022212996036144 NA FALSE NA 1 3.838 . missense_variant MODERATE KIF1B HGNC 16636 ENST00000377081 43/48 COSM1332176 1 tolerated(0.44) benign(0) NA CGT A,A 6.589e-05 1:10368524 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 missense_variant 2.610284 0.93709 0.21371 0.706548 0.765839901845391 0 0.999999999958917 TRUE 6.49741e-05 ENSE00000869761_019 ENSE00000869761 019 1 10428471 10428640 + 54 72 44 A G 10428585 229 115 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCGGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368526 10368527 10368527 exon -12 0.847222222222222 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCGGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 526 274 1 0.998881053180227 0.999440526590114 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.038343373432238 0.00496367182027713 0.996164568200654 0.977787003963856 NA 0.0216535226262576 NA FALSE NA 1 9.291 . missense_variant MODERATE KIF1B HGNC 16636 ENST00000377081 43/48 1 deleterious(0.01) possibly_damaging(0.72) NA CAG A,G 1.647e-05 1:10368527 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 missense_variant 6.446313 0.9947 0.99582 0.706548 0.997894378126983 0 0.999999999958917 TRUE 4.06088e-06 ENSE00000869761_021 ENSE00000869761 021 1 10428471 10428640 + 54 72 44 G A 10428592 231 122 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTATAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368533 10368534 10368534 exon -5 0.944444444444444 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTATAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 462 362 1 1 1 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.038343373432238 0.00608261864005 0.996164568200654 0.977787003963856 NA 0.022212996036144 NA FALSE NA 1 8.015 rs145969842 missense_variant MODERATE KIF1B HGNC 16636 ENST00000377081 43/48 rs145969842 1 tolerated(0.08) possibly_damaging(0.492) NA A:0.0005 A:0 TGT G,A 6.589e-05 1:10368534 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 missense_variant 6.622138 0.9916 0.98976 0.706548 0.983199145502536 0 0.999999999958917 TRUE 8.1217e-05 ENSE00000869761_023 ENSE00000869761 023 1 10428471 10428640 + 54 72 44 T G 10428611 233 141 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACGGTAATTTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368552 10368553 10368553 downstr_intron 15 1.34883720930233 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACGGTAATTTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 1415 1253 0.992770900010569 0.995811714160318 0.994291307085444 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.0311142734428074 0.00189433280036788 0.996164568200654 0.977787003963856 NA 0.0165043031215876 NA FALSE NA 0 -1.258 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 43/47 rs201508062 1 G:0.0004 G:0 G:0 NA G:0 G:0.002 G:0 CTG T,G 0.0001318 1:10368553 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 intron_variant -0.154395 0.10754 0.01127 0.099367 0.313175098812827 0.0641646 0.999999999958917 TRUE 0.000178695 ENSE00000869761_025 ENSE00000869761 025 1 10428471 10428640 + 54 72 44 T A 10428616 235 146 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAAATTTTAGCCAGTATGTTGATAACTG 10368412 10368582 10368557 10368558 10368558 downstr_intron 20 1.46511627906977 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAAATTTTAGCCAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant 39 73 0 0 0 231 32 0.998003841215808 0.995025234096825 0.996514537656317 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 -0.99756357463126 -0.994765561770049 0.0363472146480464 0.00110785273687497 0.996164568200654 0.977787003963856 -0.996164568200654 0.0187275336924607 1.01489210189312 FALSE TRUE 0 0.147 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 43/47 1 NA ATT T,A 8.236e-06 1:10368558 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 intron_variant 0.23478 0.14469 0.06036 0.099367 0.642570467547932 0.0641646 0.999999999958917 TRUE 1.62466e-05 ENSE00000869761_026 ENSE00000869761 026 1 10428471 10428640 + 54 72 44 C T 10428624 236 154 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCTAGTATGTTGATAACTG 10368412 10368582 10368565 10368566 10368566 downstr_intron 28 1.65116279069767 CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCTAGTATGTTGATAACTG CTCCTGGCTGTTGACATTTTATGTTCAGCTTGCACTTCTCTTTCTCTTCTTTAGTGCCTGCAACTTCTCACCCACACTTTCAACAGAGAATTCAGCCAGGTGCACGGCAGCGTCAGTGACTGTAAGGTGAGCACATTGACTGTAATTTTTAGCCAGTATGTTGATAACTG mutant NA NA NA NA NA 743 1329 0.972595155354855 0.99681654740953 0.984705851382193 0.99756357463126 0.994765561770049 0.961656626567762 0.99391738135995 NA NA 0.0109385287870933 0.00289916604958018 0.996164568200654 0.977787003963856 NA 0.00691884741833676 NA FALSE NA 0 -1.501 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 43/47 1 NA CCA C,T 8.236e-06 1:10368566 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00000869761 intron_variant 0.141626 0.15452 0.01244 0.099367 0.715339179386107 0.0490229 0.999999999958917 TRUE 4.0619e-06 ENSE00000869889_000 ENSE00000869889 000 9 95784550 95784719 + 59 63 48 NA NA NA NA NA TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 NA NA NA NA NA NA TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG natural 27 66 0.971186785966155 0.850111231087551 0.910649008526853 1105 423 0.979344101202929 0.832636948582756 0.905990524892843 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 0 0 0 0 0.910649008526853 0.905990524892843 0 0 0 FALSE FALSE NA NA NA NA NA FGD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD3 NA NA NA ENSG00000127084 ENSE00000869889 NA NA NA NA NA NA NA 8.70335327222514e-06 FALSE NA ENSE00000869889_001 ENSE00000869889 001 9 95784550 95784719 + 59 63 48 G A 95784564 885 15 TGCACAGTGGCTGCATGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022281 93022282 93022282 upstr_intron -45 -0.745762711864407 TGCACAGTGGCTGCATGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 28 52 0.97200694980082 0.94423287379283 0.958119911796825 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.007337151402109 0.111595925210074 0.910649008526853 0.905990524892843 NA 0.0521293869039824 NA FALSE NA 0 -0.028 . intron_variant MODIFIER FGD3 HGNC 16027 ENST00000416701 13/17 1 NA CGT G,A 2.479e-05 9:93022282 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 intron_variant -0.122763 0.11299 0.01637 0.115753 0.543212971092904 0.0996752 8.70335327222514e-06 FALSE 8.3743e-06 ENSE00000869889_002 ENSE00000869889 002 9 95784550 95784719 + 59 63 48 T G 95784565 886 16 TGCACAGTGGCTGCGGGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022282 93022283 93022283 upstr_intron -44 -0.728813559322034 TGCACAGTGGCTGCGGGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 91 157 0.962748985297007 1 0.981374492648504 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.0165951159059217 0.167363051417244 0.910649008526853 0.905990524892843 NA 0.0753839677556609 NA FALSE NA 0.006 0.382 . intron_variant MODIFIER FGD3 HGNC 16027 ENST00000416701 13/17 1 NA GTG T,G 1.653e-05 9:93022283 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 intron_variant 0.232008 0.15327 0.08281 0.115753 0.478198459865408 0.0996752 8.70335327222514e-06 FALSE NA ENSE00000869889_004 ENSE00000869889 004 9 95784550 95784719 + 59 63 48 C T 95784588 888 39 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTTGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022305 93022306 93022306 upstr_intron -21 -0.338983050847458 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTTGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 41 104 0.998991911803288 0.983882039096837 0.991436975450062 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA 0.0196478106003585 0.15124509051408 0.910649008526853 0.905990524892843 NA 0.0854464505572193 NA FALSE NA 0 -0.994 . intron_variant MODIFIER FGD3 HGNC 16027 ENST00000416701 13/17 1 NA TCG C,T 8.264e-06 9:93022306 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 intron_variant 0.210071 0.15268 0.02751 0.115753 0.684819721532927 0.0996752 8.70335327222514e-06 FALSE 1.64451e-05 ENSE00000869889_009 ENSE00000869889 009 9 95784550 95784719 + 59 63 48 C T 95784613 893 64 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCATGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022330 93022331 93022331 exon 5 0.0793650793650794 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCATGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 1012 442 0.955257174976474 0.9496474556642 0.952452315320337 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.0240869262264551 0.117010507081444 0.910649008526853 0.905990524892843 NA 0.0464617904274944 NA FALSE NA 0 -0.274 . missense_variant MODERATE FGD3 HGNC 16027 ENST00000416701 14/18 rs200349085&COSM3908952&COSM3908951 1 tolerated(0.33) benign(0.016) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0002 ACG C,T 4.133e-05 9:93022331 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 missense_variant 0.574739 0.10561 0.00339 0.67177 0.925368971812077 0 8.70335327222514e-06 FALSE 2.86196e-05 ENSE00000869889_012 ENSE00000869889 012 9 95784550 95784719 + 59 63 48 C A 95784620 896 71 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACAAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022337 93022338 93022338 exon 12 0.19047619047619 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACAAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 645 489 0.94829251073327 0.91286616321814 0.930579336975705 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.0310515904696594 0.0802292146353834 0.910649008526853 0.905990524892843 NA 0.024588812082862 NA FALSE NA 0.018 -0.415 rs41273410 synonymous_variant LOW FGD3 HGNC 16027 ENST00000416701 14/18 rs41273410 1 A:0.0088 A:0.003 A:0.013 NA A:0 A:0.0288 A:0.002 A:0.0054 A:0.0225 CCA C,A 0.016 9:93022338 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 synonymous_variant 1.341239 0.1566 0.02509 0.67177 0.437980756903557 0 8.70335327222514e-06 FALSE 0.0162733 ENSE00000869889_013 ENSE00000869889 013 9 95784550 95784719 + 59 63 48 T C 95784626 897 77 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCCGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022343 93022344 93022344 exon 18 0.285714285714286 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCCGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 77 68 0.982779133506608 1 0.991389566753304 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA 0.00343503230367903 0.167363051417244 0.910649008526853 0.905990524892843 NA 0.0853990418604613 NA FALSE NA 0 -6.047 . synonymous_variant LOW FGD3 HGNC 16027 ENST00000416701 14/18 1 NA CTG T,C 8.268e-06 9:93022344 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 synonymous_variant -0.406181 0.10769 0.0055 0.67177 0.430001026780054 0 8.70335327222514e-06 FALSE 2.85873e-05 ENSE00000869889_014 ENSE00000869889 014 9 95784550 95784719 + 59 63 48 A G 95784631 898 82 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGGGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022348 93022349 93022349 exon 23 0.365079365079365 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGGGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 343 718 0.02281447222641 0.000445635322312456 0.0116300537743612 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.956529628976519 -0.832191313260444 0.910649008526853 0.905990524892843 NA -0.894360471118482 NA TRUE NA 0.79 1.252 . missense_variant MODERATE FGD3 HGNC 16027 ENST00000416701 14/18 rs374049906 1 tolerated(0.3) benign(0.012) NA G:0 G:0.0001 GAG A,G 2.48e-05 9:93022349 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 missense_variant 1.114519 0.49655 0.41394 0.67177 0.92498869254392 0 8.70335327222514e-06 FALSE 1.22462e-05 ENSE00000869889_019 ENSE00000869889 019 9 95784550 95784719 + 59 63 48 G A 95784648 903 99 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCAAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022365 93022366 93022366 exon -24 0.634920634920635 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCAAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 493 267 0.806517296493704 0.857846397956517 0.832181847225111 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.172826804709225 0.0252094493737608 0.910649008526853 0.905990524892843 NA -0.0738086776677323 NA FALSE NA 0.026 1.375 . missense_variant MODERATE FGD3 HGNC 16027 ENST00000416701 14/18 COSM1598553&COSM1598552 1 tolerated(0.08) benign(0.145) NA CGA G,A 2.48e-05 9:93022366 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 missense_variant 1.554908 0.16331 0.05735 0.67177 0.986217461683443 0 8.70335327222514e-06 FALSE 1.63304e-05 ENSE00000869889_020 ENSE00000869889 020 9 95784550 95784719 + 59 63 48 G A 95784655 904 106 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAATTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022372 93022373 93022373 exon -17 0.746031746031746 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAATTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 1167 52 1 0.95 0.975 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA 0.0206558987970709 0.117363051417243 0.910649008526853 0.905990524892843 NA 0.0690094751071572 NA FALSE NA 0.001 1.015 . missense_variant MODERATE FGD3 HGNC 16027 ENST00000416701 14/18 rs564737909 1 tolerated(0.31) benign(0.002) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGT G,A 1.654e-05 9:93022373 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 missense_variant 0.152644 0.16661 0.03894 0.67177 0.823716522251319 0 8.70335327222514e-06 FALSE 1.2244e-05 ENSE00000869889_022 ENSE00000869889 022 9 95784550 95784719 + 59 63 48 C A 95784658 906 109 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTAGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022375 93022376 93022376 exon -14 0.793650793650794 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTAGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 276 115 0.0227550967663289 0 0.0113775483831645 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.9565890044366 -0.832636948582756 0.910649008526853 0.905990524892843 NA -0.894612976509678 NA TRUE NA 0.044 1.316 NA NA NA FGD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:93022376 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 stop_gained 8.977412 0.20292 0.01647 0.67177 0.945261247796197 0 8.70335327222514e-06 FALSE 0 ENSE00000869889_023 ENSE00000869889 023 9 95784550 95784719 + 59 63 48 G A 95784659 907 110 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCAGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022376 93022377 93022377 exon -13 0.80952380952381 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCAGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 215 489 0.801212384817887 0.8 0.800606192408943 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.178131716385042 -0.0326369485827565 0.910649008526853 0.905990524892843 NA -0.105384332483899 NA FALSE NA 0.04 -0.012 . synonymous_variant LOW FGD3 HGNC 16027 ENST00000416701 14/18 1 NA CGG G,A 2.48e-05 9:93022377 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 synonymous_variant 0.459389 0.09943 0.01575 0.67177 0.566837022940456 0 8.70335327222514e-06 FALSE 1.63365e-05 ENSE00000869889_025 ENSE00000869889 025 9 95784550 95784719 + 59 63 48 T C 95784662 909 113 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGCGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022379 93022380 93022380 exon -10 0.857142857142857 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGCGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 394 674 0.996716341196203 0.991936365768106 0.994326353482154 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA 0.0173722399932734 0.15929941718535 0.910649008526853 0.905990524892843 NA 0.0883358285893116 NA FALSE NA 0.035 0.108 . synonymous_variant LOW FGD3 HGNC 16027 ENST00000416701 14/18 1 NA GTG T,C 8.268e-06 9:93022380 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 synonymous_variant -0.294425 0.1678 0.04535 0.67177 0.557208350111553 0 8.70335327222514e-06 FALSE 4.08317e-06 ENSE00000869889_026 ENSE00000869889 026 9 95784550 95784719 + 59 63 48 G T 95784671 910 122 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGTGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022388 93022389 93022389 exon -1 1 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGTGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 50 68 0.00988294039059956 0 0.00494147019529978 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.96946116081233 -0.832636948582756 0.910649008526853 0.905990524892843 NA -0.901049054697543 NA TRUE NA 1 3.606 . splice_region_variant&synonymous_variant LOW FGD3 HGNC 16027 ENST00000416701 14/18 rs199640763 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 GGG G,T 0.0002398 9:93022389 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 splice_region_variant 0.651194 0.97704 0.93606 0.67177 0.712329374085066 0 8.70335327222514e-06 FALSE 0.000191995 ENSE00000869889_031 ENSE00000869889 031 9 95784550 95784719 + 59 63 48 G A 95784676 915 127 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAATGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022393 93022394 93022394 downstr_intron 5 1.1063829787234 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAATGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 116 161 0 0.163513745602175 0.0817568728010876 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.979344101202929 -0.669123202980581 0.910649008526853 0.905990524892843 NA -0.824233652091755 NA TRUE NA 1 5.186 . splice_region_variant&intron_variant LOW FGD3 HGNC 16027 ENST00000416701 14/17 1 NA AGT G,A 3.308e-05 9:93022394 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 splice_region_variant 1.050699 0.97611 0.94968 0.069865 0.764229333985891 0.953679 8.70335327222514e-06 FALSE 2.04349e-05 ENSE00000869889_032 ENSE00000869889 032 9 95784550 95784719 + 59 63 48 C T 95784679 916 130 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGTCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022396 93022397 93022397 downstr_intron 8 1.17021276595745 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGTCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 197 88 0.996087505338328 1 0.998043752669164 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA 0.0167434041353985 0.167363051417244 0.910649008526853 0.905990524892843 NA 0.092053227776321 NA FALSE NA 0.007 -0.368 . splice_region_variant&intron_variant LOW FGD3 HGNC 16027 ENST00000416701 14/17 1 NA GCC C,T 8.269e-06 9:93022397 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 splice_region_variant 0.125006 0.14786 0.00731 0.069865 0.490289263976911 0.168084 8.70335327222514e-06 FALSE NA ENSE00000869889_036 ENSE00000869889 036 9 95784550 95784719 + 59 63 48 C G 95784691 920 142 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGGGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022408 93022409 93022409 downstr_intron 20 1.42553191489362 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGGGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 658 116 0.959591907353351 0.996279766911079 0.977935837132215 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.0197521938495778 0.163642818328322 0.910649008526853 0.905990524892843 NA 0.0719453122393722 NA FALSE NA 0 -1.313 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:93022409 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 intron_variant -0.596499 0.08552 0.01111 0.069865 0.254394267438694 0.125422 8.70335327222514e-06 FALSE 4.10715e-06 ENSE00000869889_037 ENSE00000869889 037 9 95784550 95784719 + 59 63 48 G C 95784692 921 143 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCCGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022409 93022410 93022410 downstr_intron 21 1.4468085106383 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCCGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 2475 87 0.965310664633261 0.922889871916607 0.944100268274934 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.0140334365696682 0.0902529233338506 0.910649008526853 0.905990524892843 NA 0.0381097433820912 NA FALSE NA 0 -0.771 NA NA NA FGD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:93022410 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 intron_variant -0.657253 0.13157 0.0147 0.069865 0.481134595782057 0.125422 8.70335327222514e-06 FALSE 4.10948e-06 ENSE00000869889_039 ENSE00000869889 039 9 95784550 95784719 + 59 63 48 C T 95784695 923 146 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTTAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 93022412 93022413 93022413 downstr_intron 24 1.51063829787234 TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTTAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG mutant NA NA NA NA NA 35 82 1 1 1 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA 0.0206558987970709 0.167363051417244 0.910649008526853 0.905990524892843 NA 0.0940094751071572 NA FALSE NA 0 -1.245 . intron_variant MODIFIER FGD3 HGNC 16027 ENST00000416701 14/17 1 NA TCA C,T 8.269e-06 9:93022413 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00000869889 intron_variant 0.278016 0.12654 0.01007 0.069865 0.681706572732178 0.125422 8.70335327222514e-06 FALSE 4.10789e-06 ENSE00000869889_BRK ENSE00000869889 BRK 9 95784550 95784719 + 59 63 48 A,G; T,T NA NA NA TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTTTATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGCCAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG 93022267 93022437 NA NA NA NA NA NA TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTTTATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGCCAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG TGCACAGTGGCTGCGTGGCCCTGGAATCTCCTCTCACTCGGCCTCTGTGTCCCTTCTAGATCACGAGCACCAGCCCTGTGGAGCCTGTGGTGACCACCGAAGGCAGTTCGGGTGCAGCAGGGGTAAGTGCCCCATGCTCAGCGGTCAGCAGGGGTGAAAGGCAGAGCAGG control NA NA NA NA NA 77 807 0.0202908805910874 0 0.0101454402955437 0.971186785966155 0.850111231087551 0.979344101202929 0.832636948582756 NA NA -0.959053220611842 -0.832636948582756 0.910649008526853 0.905990524892843 NA -0.895845084597299 NA TRUE NA NA NA NA NA NA FGD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD3 NA NA NA ENSG00000127084 ENSE00000869889 NA NA NA NA NA NA NA 8.70335327222514e-06 FALSE NA ENSE00000869920_000 ENSE00000869920 000 9 95420860 95421029 - 56 48 66 NA NA NA NA NA ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 NA NA NA NA NA NA ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT natural 80 59 0.995289476543686 0.991565879753239 0.993427678148462 6193 8507 0.982127714793239 0.84110226306327 0.911614988928255 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 0 0 0 0 0.993427678148462 0.911614988928255 0 0 0 FALSE FALSE NA NA NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00000869920 NA NA NA NA NA NA NA 0.973790826181443 TRUE NA ENSE00000869920_001 ENSE00000869920 001 9 95420860 95421029 - 56 48 66 T C 95420870 841 160 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGGAAACTCTGAT 92658577 92658747 92658587 92658588 92658588 downstr_intron 46 1.83636363636364 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGGAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1304 1170 0.995961617962655 0.994691253610581 0.995326435786618 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0138339031694156 0.153588990547311 0.993427678148462 0.911614988928255 NA 0.0837114468583632 NA FALSE NA 0.001 0.391 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 2/12 1 NA TTC T 8.236e-06 9:92658588 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant 1.164269 0.20375 0.13201 0.099367 0.841507020353576 0.184782 0.973790826181443 TRUE 4.37832e-06 ENSE00000869920_003 ENSE00000869920 003 9 95420860 95421029 - 56 48 66 T G 95420873 843 157 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTCAGAAAACTCTGAT 92658577 92658747 92658590 92658591 92658591 downstr_intron 43 1.78181818181818 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTCAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 718 62 0.997156531182635 0.990228019449152 0.993692275315894 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0150288163893956 0.149125756385882 0.993427678148462 0.911614988928255 NA 0.082077286387639 NA FALSE NA 0.006 0.425 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 2/12 1 NA TTA T 1.647e-05 9:92658591 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant 1.193511 0.20975 0.15861 0.099367 0.741824033888389 0.184782 0.973790826181443 TRUE 8.74539e-06 ENSE00000869920_004 ENSE00000869920 004 9 95420860 95421029 - 56 48 66 T C 95420880 844 150 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAGTTATTTAAGAAAACTCTGAT 92658577 92658747 92658597 92658598 92658598 downstr_intron 36 1.65454545454545 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAGTTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 143 541 0.985805916252133 0.851807953458699 0.918806934855416 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.00367820145889364 0.0107056903954288 0.993427678148462 0.911614988928255 NA 0.00719194592716121 NA FALSE NA 0 -0.525 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:92658598 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant 0.120755 0.10277 0.01071 0.062308 0.575821598216159 0.120453 0.973790826181443 TRUE 8.6804e-06 ENSE00000869920_005 ENSE00000869920 005 9 95420860 95421029 - 56 48 66 T A 95420880 845 150 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACATTTATTTAAGAAAACTCTGAT 92658577 92658747 92658597 92658598 92658598 downstr_intron 36 1.65454545454545 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACATTTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1344 1453 0.999601257873188 0.807627546806919 0.903614402340054 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.017473543079949 -0.0334747162563511 0.993427678148462 0.911614988928255 NA -0.00800058658820108 NA FALSE NA 0 -0.525 NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00000869920 intron_variant 0.423973 0.10571 0.02963 0.062308 0.801379181621694 0.120453 0.973790826181443 TRUE 4.3402e-06 ENSE00000869920_006 ENSE00000869920 006 9 95420860 95421029 - 56 48 66 T C 95420884 846 146 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACGACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658601 92658602 92658602 downstr_intron 32 1.58181818181818 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACGACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 845 1358 1 0.930091257480781 0.965045628740391 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0178722852067608 0.0889889944175114 0.993427678148462 0.911614988928255 NA 0.0534306398121361 NA FALSE NA 0 0.155 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 2/12 1 NA TTG T 8.236e-06 9:92658602 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant 0.254417 0.15901 0.05783 0.099367 0.53494397237725 0.120453 0.973790826181443 TRUE 8.39786e-06 ENSE00000869920_007 ENSE00000869920 007 9 95420860 95421029 - 56 48 66 G T 95420885 847 145 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTAAAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658602 92658603 92658603 downstr_intron 31 1.56363636363636 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTAAAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 781 1617 0.990677885065307 0.996320837145176 0.993499361105242 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.00855017027206817 0.155218574081906 0.993427678148462 0.911614988928255 NA 0.0818843721769872 NA FALSE NA 0 0.054 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 2/12 1 NA TGT G 3.295e-05 9:92658603 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant -0.003902 0.08605 0.00262 0.099367 0.674850120612701 0.120453 0.973790826181443 TRUE 3.37864e-05 ENSE00000869920_008 ENSE00000869920 008 9 95420860 95421029 - 56 48 66 G T 95420894 848 136 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACACAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658611 92658612 92658612 downstr_intron 22 1.4 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACACAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1262 21 0.998381228283677 0.940656525081118 0.969518876682398 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0162535134904378 0.0995542620178481 0.993427678148462 0.911614988928255 NA 0.057903887754143 NA FALSE NA 0 -0.181 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:92658612 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant 0.00657 0.13471 0.04396 0.099367 0.652323054914978 0.0716881 0.973790826181443 TRUE 4.0785e-06 ENSE00000869920_009 ENSE00000869920 009 9 95420860 95421029 - 56 48 66 G C 95420894 849 136 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACGCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658611 92658612 92658612 downstr_intron 22 1.4 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACGCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 2738 3735 1 0.999238091317341 0.99961904565867 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0178722852067608 0.158135828254071 0.993427678148462 0.911614988928255 NA 0.0880040567304158 NA FALSE NA 0 -0.181 NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00000869920 intron_variant -0.154753 0.15693 0.06797 0.099367 0.495213196092783 0.0716881 0.973790826181443 TRUE NA ENSE00000869920_010 ENSE00000869920 010 9 95420860 95421029 - 56 48 66 T C 95420924 850 106 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATGGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658641 92658642 92658642 exon -9 0.833333333333333 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATGGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 215 365 1 1 1 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0178722852067608 0.15889773693673 0.993427678148462 0.911614988928255 NA 0.0883850110717454 NA FALSE NA 1 2.03 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 2/13 1 tolerated(0.11) benign(0.007) NA CTA T 8.236e-06 9:92658642 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 missense_variant 2.35574 0.97412 0.85043 0.706548 0.964924271604122 0 0.973790826181443 TRUE 1.62463e-05 ENSE00000869920_011 ENSE00000869920 011 9 95420860 95421029 - 56 48 66 A G 95420931 851 99 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCCCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658648 92658649 92658649 exon -16 0.6875 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCCCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 312 1648 1 0.997084723078313 0.998542361539156 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0178722852067608 0.155982460015043 0.993427678148462 0.911614988928255 NA 0.0869273726109017 NA FALSE NA 1 1.381 . synonymous_variant LOW IPPK HGNC 14645 ENST00000287996 2/13 1 NA GAG A 8.236e-06 9:92658649 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 synonymous_variant 0.743134 0.95953 0.64743 0.706548 0.754379102773878 0 0.973790826181443 TRUE 4.06174e-06 ENSE00000869920_012 ENSE00000869920 012 9 95420860 95421029 - 56 48 66 G A 95420933 852 97 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTTCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658650 92658651 92658651 exon -18 0.645833333333333 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTTCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 130 12 1 1 1 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0178722852067608 0.15889773693673 0.993427678148462 0.911614988928255 NA 0.0883850110717454 NA FALSE NA 1 3.861 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 2/13 1 tolerated(0.33) benign(0.125) NA GGA G 8.236e-06 9:92658651 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 missense_variant 2.191832 0.97852 0.9164 0.706548 0.998197510202385 0 0.973790826181443 TRUE 4.06213e-06 ENSE00000869920_013 ENSE00000869920 013 9 95420860 95421029 - 56 48 66 A C 95420934 853 96 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTGCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658651 92658652 92658652 exon -19 0.625 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTGCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1209 721 0.998216394311704 1 0.999108197155852 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0160886795184644 0.15889773693673 0.993427678148462 0.911614988928255 NA 0.0874932082275972 NA FALSE NA 1 0.588 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 2/13 1 tolerated(0.32) benign(0.257) NA GAA A 8.236e-06 9:92658652 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 missense_variant 1.363181 0.94796 0.77141 0.706548 0.965655981833603 0 0.973790826181443 TRUE 4.06164e-06 ENSE00000869920_014 ENSE00000869920 014 9 95420860 95421029 - 56 48 66 A G 95420935 854 95 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTCTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658652 92658653 92658653 exon -20 0.604166666666667 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTCTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1907 787 0.998223510663151 0.821872507135206 0.910048008899179 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0160957958699121 -0.0192297559280638 0.993427678148462 0.911614988928255 NA -0.00156698002907585 NA FALSE NA 1 3.589 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 2/13 1 tolerated(0.53) benign(0.044) NA AAA A 8.236e-06 9:92658653 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 missense_variant 2.49527 0.97545 0.90572 0.706548 0.985013702198208 0 0.973790826181443 TRUE 4.06157e-06 ENSE00000869920_015 ENSE00000869920 015 9 95420860 95421029 - 56 48 66 T G 95420939 855 91 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGCAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658656 92658657 92658657 exon -24 0.520833333333333 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGCAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1498 235 0.997500942682343 0.998651627960809 0.998076285321576 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0153732278891037 0.157549364897539 0.993427678148462 0.911614988928255 NA 0.0864612963933211 NA FALSE NA 1 4.482 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 2/13 1 deleterious(0) probably_damaging(1) NA TTC T 8.236e-06 9:92658657 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 missense_variant 5.091884 0.97505 0.93509 0.706548 0.993085309223759 0 0.973790826181443 TRUE 4.06194e-06 ENSE00000869920_017 ENSE00000869920 017 9 95420860 95421029 - 56 48 66 C T 95420957 857 73 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCATCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658674 92658675 92658675 exon 7 0.145833333333333 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCATCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 600 984 0.992247493376183 0.808510640931569 0.900379067153876 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0101197785829434 -0.0325916221317014 0.993427678148462 0.911614988928255 NA -0.011235921774379 NA FALSE NA 1 2.889 rs148572533 missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 2/13 rs148572533&COSM609809 1 tolerated(0.08) benign(0.017) NA T:0 T:0.0001 ACG C 9.06e-05 9:92658675 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 missense_variant 2.600301 0.97798 0.89284 0.706548 0.997841996562418 0 0.973790826181443 TRUE 0.000154408 ENSE00000869920_018 ENSE00000869920 018 9 95420860 95421029 - 56 48 66 G A 95420958 858 72 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGTGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658675 92658676 92658676 exon 6 0.125 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGTGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1289 1120 0.997020665875301 0.999488676955834 0.998254671415567 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0148929510820613 0.158386413892564 0.993427678148462 0.911614988928255 NA 0.0866396824873128 NA FALSE NA 1 2.684 . synonymous_variant LOW IPPK HGNC 14645 ENST00000287996 2/13 COSM3908906 1 NA CGC G 8.236e-06 9:92658676 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 synonymous_variant 0.581346 0.9095 0.02456 0.706548 0.454650535757531 0 0.973790826181443 TRUE 4.06458e-06 ENSE00000869920_019 ENSE00000869920 019 9 95420860 95421029 - 56 48 66 G A 95420963 859 67 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGTGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658680 92658681 92658681 exon 1 0.0208333333333333 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGTGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 534 1364 1 0.891048181965962 0.945524090982981 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0178722852067608 0.0499459189026924 0.993427678148462 0.911614988928255 NA 0.0339091020547266 NA FALSE NA 1 3.761 . missense_variant&splice_region_variant MODERATE IPPK HGNC 14645 ENST00000287996 2/13 1 tolerated(0.08) probably_damaging(0.91) NA CGC G 8.236e-06 9:92658681 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 missense_variant 4.505849 0.96344 0.87887 0.706548 0.998358162628344 0 0.973790826181443 TRUE 8.13101e-06 ENSE00000869920_020 ENSE00000869920 020 9 95420860 95421029 - 56 48 66 T C 95420967 860 63 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAGCAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658684 92658685 92658685 upstr_intron -4 -0.0454545454545455 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAGCAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1225 1068 0.992387074277999 0.97190986795519 0.982148471116595 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0102593594847602 0.13080760489192 0.993427678148462 0.911614988928255 NA 0.0705334821883402 NA FALSE NA 0.002 0.333 . splice_region_variant&intron_variant LOW IPPK HGNC 14645 ENST00000287996 1/12 rs377362158 1 NA C:0 C:0.0001 GTT T 1.647e-05 9:92658685 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 splice_region_variant -0.418397 0.18191 0.08991 0.099367 0.403153076306709 0.236179 0.973790826181443 TRUE 4.0657e-06 ENSE00000869920_021 ENSE00000869920 021 9 95420860 95421029 - 56 48 66 A G 95420983 861 47 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGACTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658700 92658701 92658701 upstr_intron -20 -0.287878787878788 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGACTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 2845 1666 0.998214183067949 1 0.999107091533974 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0160864682747095 0.15889773693673 0.993427678148462 0.911614988928255 NA 0.0874921026057198 NA FALSE NA 0.631 5.041 rs10992393 intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 1/12 rs10992393 1 G:0.2053 G:0.4266 G:0.1859 NA G:0.004 G:0.2803 G:0.0501 G:0.3904 G:0.2801 AAT A 0.228 9:92658701 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant -0.197169 0.22558 0.90399 0.062308 0.347529766168586 0.204939 0.973790826181443 TRUE 0.223722 ENSE00000869920_023 ENSE00000869920 023 9 95420860 95421029 - 56 48 66 G T 95420992 863 38 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATAATAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658709 92658710 92658710 upstr_intron -29 -0.424242424242424 ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATAATAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 129 347 1 0.995414667926625 0.997707333963312 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0178722852067608 0.154312404863355 0.993427678148462 0.911614988928255 NA 0.0860923450350579 NA FALSE NA 1 2.238 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 1/12 1 NA AGT G 8.236e-06 9:92658710 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant 0.061168 0.2588 0.74516 0.062308 0.647330149635666 0.116278 0.973790826181443 TRUE NA ENSE00000869920_024 ENSE00000869920 024 9 95420860 95421029 - 56 48 66 C G 95421006 864 24 ACTGACTGACACCTTGTGCCTTGCCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658723 92658724 92658724 upstr_intron -43 -0.636363636363636 ACTGACTGACACCTTGTGCCTTGCCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1968 986 0.999497045851559 0.998911902973413 0.999204474412486 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0173693310583197 0.157809639910143 0.993427678148462 0.911614988928255 NA 0.0875894854842312 NA FALSE NA 0 -0.472 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 1/12 1 NA GCC C 2.471e-05 9:92658724 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant 0.263821 0.16621 0.06463 0.062308 0.548499090332431 0.0455939 0.973790826181443 TRUE 2.04569e-05 ENSE00000869920_026 ENSE00000869920 026 9 95420860 95421029 - 56 48 66 C A 95421014 866 16 ACTGACTGACACCTTTTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 92658731 92658732 92658732 upstr_intron -51 -0.757575757575758 ACTGACTGACACCTTTTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT mutant NA NA NA NA NA 1669 1851 1 0.996424182578453 0.998212091289226 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 NA NA 0.0178722852067608 0.155321919515183 0.993427678148462 0.911614988928255 NA 0.0865971023609717 NA FALSE NA 0 -3.893 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 1/12 rs375498714 1 A:0.0010 A:0.0038 A:0 NA A:0 A:0 A:0 A:0.0009 A:0 ACA C 0.0001647 9:92658732 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869920 intron_variant 0.073649 0.06272 0.00966 0.062308 0.674274920057088 0.0448725 0.973790826181443 TRUE 0.000118859 ENSE00000869920_BRK ENSE00000869920 BRK 9 95420860 95421029 - 56 48 66 A,G; T,T NA NA NA ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACTTCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGCCAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT 92658577 92658747 NA NA NA NA NA NA ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACTTCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGCCAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT ACTGACTGACACCTTGTGCCTTGGCTTTGAGCAAATACTAATCAGATTTGTTTTATTTTCCAACAGCGCTGCGTCGTGCTGCGGTTTCTGAAGTTTCCTCCAAATAGGAAGAAGGTAAGATGGGTGGGTTTGCACCCAGACTTACAACAATTATTTAAGAAAACTCTGAT control 171 145 0.0527688478574757 0 0.0263844239287379 650 650 0.0147372621251624 0.136680476864102 0.0757088694946324 0.995289476543686 0.991565879753239 0.982127714793239 0.84110226306327 -0.94252062868621 -0.991565879753239 -0.967390452668077 -0.704421786199168 0.993427678148462 0.911614988928255 -0.967043254219725 -0.835906119433622 0.131137134786102 TRUE TRUE NA NA NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00000869920 NA NA NA NA NA NA NA 0.973790826181443 TRUE NA ENSE00000869924_000 ENSE00000869924 000 9 95410306 95410475 - 35 90 45 NA NA NA NA NA GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 NA NA NA NA NA NA GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC natural 47 23 0.998630422782865 0.997820344026635 0.99822538340475 4109 1376 0.940317194065454 0.991864286924053 0.966090740494754 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 0 0 0 0 0.99822538340475 0.966090740494754 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00000869924 NA NA NA NA NA NA NA 0.973790826181443 TRUE NA ENSE00000869924_001 ENSE00000869924 001 9 95410306 95410475 - 35 90 45 T C 95410330 798 146 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAGTGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648047 92648048 92648048 downstr_intron 11 1.32352941176471 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAGTGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 29 102 1 1 1 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 0.00813571307594674 0.99822538340475 0.966090740494754 NA 0.0339092595052462 NA FALSE NA 0 0.227 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:92648048 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 intron_variant -0.206403 0.07558 0.0264 0.156188 0.438009416446633 0.0455939 0.973790826181443 TRUE 9.5389e-05 ENSE00000869924_003 ENSE00000869924 003 9 95410306 95410475 - 35 90 45 C G 95410350 800 126 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCACCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648067 92648068 92648068 exon -10 0.9 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCACCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 219 37 0.853192319610775 1 0.926596159805387 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA -0.0871248744546796 0.00813571307594674 0.99822538340475 0.966090740494754 NA -0.0394945806893665 NA FALSE NA 1 3.073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:92648068 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 missense_variant 6.102525 0.98224 0.95033 0.706548 0.997652866533893 0 0.973790826181443 TRUE 4.10162e-06 ENSE00000869924_004 ENSE00000869924 004 9 95410306 95410475 - 35 90 45 C T 95410350 801 126 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAACACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648067 92648068 92648068 exon -10 0.9 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAACACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 127 448 0.998791180025785 0.994734684006467 0.996762932016126 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0584739859603307 0.00287039708241366 0.99822538340475 0.966090740494754 NA 0.0306721915213722 NA FALSE NA 1 3.073 NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00000869924 synonymous_variant 1.426674 0.98005 0.89654 0.706548 0.665680010213713 0 0.973790826181443 TRUE 4.10162e-06 ENSE00000869924_005 ENSE00000869924 005 9 95410306 95410475 - 35 90 45 C T 95410374 802 102 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAAGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648091 92648092 92648092 exon -34 0.633333333333333 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAAGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 1360 1304 0.998569042268481 0.997057365651405 0.997813203959943 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0582518482030264 0.00519307872735142 0.99822538340475 0.966090740494754 NA 0.0317224634651889 NA FALSE NA 0.935 -0.116 . synonymous_variant LOW IPPK HGNC 14645 ENST00000287996 6/13 1 NA CCT C 8.236e-06 9:92648092 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 synonymous_variant 1.882315 0.9552 0.59169 0.706548 0.634689588891145 0 0.973790826181443 TRUE 4.07495e-06 ENSE00000869924_006 ENSE00000869924 006 9 95410306 95410475 - 35 90 45 T C 95410375 803 101 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAGGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648092 92648093 92648093 exon -35 0.622222222222222 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAGGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 112 20 1 1 1 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 0.00813571307594674 0.99822538340475 0.966090740494754 NA 0.0339092595052462 NA FALSE NA 0.997 1.616 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 6/13 1 tolerated(0.36) benign(0.019) NA CTT T 2.471e-05 9:92648093 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 missense_variant 1.341733 0.97633 0.87024 0.706548 0.980321689017768 0 0.973790826181443 TRUE 1.63044e-05 ENSE00000869924_009 ENSE00000869924 009 9 95410306 95410475 - 35 90 45 T A 95410385 806 91 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGTTGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648102 92648103 92648103 exon -45 0.511111111111111 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGTTGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 17 365 1 1 1 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 0.00813571307594674 0.99822538340475 0.966090740494754 NA 0.0339092595052462 NA FALSE NA 1 0.463 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:92648103 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 missense_variant 1.567459 0.95942 0.78709 0.706548 0.804207360770121 0 0.973790826181443 TRUE 0.000346156 ENSE00000869924_012 ENSE00000869924 012 9 95410306 95410475 - 35 90 45 C A 95410392 809 84 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACTCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648109 92648110 92648110 exon 39 0.433333333333333 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACTCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 633 347 0.999450264476278 0.997775912961029 0.998613088718654 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0591330704108238 0.00591162603697581 0.99822538340475 0.966090740494754 NA 0.0325223482238998 NA FALSE NA 0.114 -1.158 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:92648110 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 synonymous_variant 2.849872 0.93098 0.14602 0.706548 0.654306142054173 0 0.973790826181443 TRUE 0.000207849 ENSE00000869924_013 ENSE00000869924 013 9 95410306 95410475 - 35 90 45 C T 95410392 810 84 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACACATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648109 92648110 92648110 exon 39 0.433333333333333 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACACATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 680 362 1 0.967868797504054 0.983934398752027 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 -0.0239954894199992 0.99822538340475 0.966090740494754 NA 0.0178436582572732 NA FALSE NA 0.114 -1.158 NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00000869924 synonymous_variant 2.491673 0.92381 0.0827 0.706548 0.656776960223124 0 0.973790826181443 TRUE 0.000273057 ENSE00000869924_014 ENSE00000869924 014 9 95410306 95410475 - 35 90 45 G A 95410393 811 83 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCATGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648110 92648111 92648111 exon 38 0.422222222222222 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCATGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 198 878 1 0.996380205196071 0.998190102598035 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 0.00451591827201758 0.99822538340475 0.966090740494754 NA 0.0320993621032816 NA FALSE NA 1 4.566 rs148842309 missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 6/13 rs148842309 1 deleterious(0) benign(0.094) NA A:0.0002 A:0 CGT G 1.647e-05 9:92648111 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 missense_variant 4.27496 0.97487 0.94232 0.706548 0.979884905122371 0 0.973790826181443 TRUE 1.22211e-05 ENSE00000869924_015 ENSE00000869924 015 9 95410306 95410475 - 35 90 45 C T 95410404 812 72 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCAAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648121 92648122 92648122 exon 27 0.3 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCAAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 175 33 0.999123185659101 1 0.99956159282955 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0588059915936466 0.00813571307594674 0.99822538340475 0.966090740494754 NA 0.0334708523347967 NA FALSE NA 0.186 -0.797 . synonymous_variant LOW IPPK HGNC 14645 ENST00000287996 6/13 1 NA TCG C 7.413e-05 9:92648122 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 synonymous_variant 2.283593 0.4521 0.06213 0.706548 0.674703763427337 0 0.973790826181443 TRUE 6.118e-05 ENSE00000869924_016 ENSE00000869924 016 9 95410306 95410475 - 35 90 45 G A 95410405 813 71 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTTGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648122 92648123 92648123 exon 26 0.288888888888889 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTTGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 290 26 1 1 1 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 0.00813571307594674 0.99822538340475 0.966090740494754 NA 0.0339092595052462 NA FALSE NA 1 5.849 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 6/13 1 deleterious(0.01) benign(0.216) NA CGA G 3.295e-05 9:92648123 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 missense_variant 5.275804 0.98599 0.97091 0.706548 0.999004531527325 0 0.973790826181443 TRUE 2.85472e-05 ENSE00000869924_017 ENSE00000869924 017 9 95410306 95410475 - 35 90 45 A G 95410410 814 66 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCCTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648127 92648128 92648128 exon 21 0.233333333333333 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCCTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 2162 230 0.996269062710605 1 0.998134531355303 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0559518686451507 0.00813571307594674 0.99822538340475 0.966090740494754 NA 0.0320437908605487 NA FALSE NA 0.998 0.941 . synonymous_variant LOW IPPK HGNC 14645 ENST00000287996 6/13 1 NA AAG A 8.236e-06 9:92648128 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 synonymous_variant 0.540848 0.95513 0.75311 0.706548 0.756352099250668 0 0.973790826181443 TRUE 4.07987e-06 ENSE00000869924_018 ENSE00000869924 018 9 95410306 95410475 - 35 90 45 A T 95410441 815 35 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTATATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648158 92648159 92648159 upstr_intron -11 -0.222222222222222 GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTATATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 28 1500 1 0.999894550904808 0.999947275452404 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 0.00803026398075457 0.99822538340475 0.966090740494754 NA 0.0338565349576501 NA FALSE NA 0.936 0.524 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 5/12 1 NA AAA A 1.648e-05 9:92648159 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 intron_variant 0.879912 0.44808 0.44919 0.062308 0.777605408202604 0.774874 0.973790826181443 TRUE 1.26836e-05 ENSE00000869924_019 ENSE00000869924 019 9 95410306 95410475 - 35 90 45 T C 95410447 816 29 GATTTCTTCCTAAATATTTTTCCTCCTTGTTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648164 92648165 92648165 upstr_intron -17 -0.355555555555556 GATTTCTTCCTAAATATTTTTCCTCCTTGTTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 371 117 0.999586700447157 1 0.999793350223579 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0592695063817027 0.00813571307594674 0.99822538340475 0.966090740494754 NA 0.0337026097288247 NA FALSE NA 0 -1.779 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:92648165 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 intron_variant 0.248809 0.17373 0.02124 0.062308 0.674680224438739 0.155388 0.973790826181443 TRUE NA ENSE00000869924_020 ENSE00000869924 020 9 95410306 95410475 - 35 90 45 T A 95410447 817 29 GATTTCTTCCTAAATATTTTTCCTCCTTTTTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648164 92648165 92648165 upstr_intron -17 -0.355555555555556 GATTTCTTCCTAAATATTTTTCCTCCTTTTTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 431 877 1 0.996858261595454 0.998429130797727 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 0.0049939746714005 0.99822538340475 0.966090740494754 NA 0.0323383903029731 NA FALSE NA 0 -1.779 NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00000869924 intron_variant 0.575139 0.17528 0.03226 0.062308 0.675070635935189 0.155388 0.973790826181443 TRUE NA ENSE00000869924_021 ENSE00000869924 021 9 95410306 95410475 - 35 90 45 A G 95410452 818 24 GATTTCTTCCTAAATATTTTTCCCCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648169 92648170 92648170 upstr_intron -22 -0.466666666666667 GATTTCTTCCTAAATATTTTTCCCCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 725 482 0.994243095913609 0.994964026308443 0.994603561111026 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0539259018481546 0.00309973938438957 0.99822538340475 0.966090740494754 NA 0.0285128206162721 NA FALSE NA 0.056 0.737 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 5/12 1 NA GAG A 5.771e-05 9:92648170 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 intron_variant 0.097084 0.17074 0.05354 0.062308 0.494148770251284 0.155388 0.973790826181443 TRUE 5.80202e-05 ENSE00000869924_022 ENSE00000869924 022 9 95410306 95410475 - 35 90 45 A G 95410461 819 15 GATTTCTTCCTAAACATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC 92648023 92648193 92648178 92648179 92648179 upstr_intron -31 -0.666666666666667 GATTTCTTCCTAAACATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC GATTTCTTCCTAAATATTTTTCCTCCTTATTTGTTTATTTTACAGCCAAAATGTGGGTTTATTCCTTTCTCGAGTGATGTCACGCATGAGATGAAGCATAAGGTCTGTCGATACTGCATGCACCAGCACCTCAAGGTGAGAGCCAATGCCCAGCTGTGGGCTACTCTAGC mutant NA NA NA NA NA 67 269 1 0.997703783525994 0.998851891762997 0.998630422782865 0.997820344026635 0.940317194065454 0.991864286924053 NA NA 0.0596828059345457 0.00583949660194116 0.99822538340475 0.966090740494754 NA 0.0327611512682434 NA FALSE NA 0 -0.571 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 5/12 1 NA TAT A 8.262e-06 9:92648179 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00000869924 intron_variant 0.273415 0.13023 0.01246 0.062308 0.499297779119744 0.155388 0.973790826181443 TRUE NA ENSE00000873488_000 ENSE00000873488 000 19 16963835 16964004 + 45 90 35 NA NA NA NA NA CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC 16853023 16853193 NA NA NA NA NA NA CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC natural 433 623 0.907312668536017 0.902171315739932 0.904741992137975 2874 1377 0.910010761240951 0.969186545104343 0.939598653172647 0.907312668536017 0.902171315739932 0.910010761240951 0.969186545104343 0 0 0 0 0.904741992137975 0.939598653172647 0 0 0 FALSE FALSE NA NA NA NA NA SIN3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SIN3B NA NA NA ENSG00000127511 ENSE00000873488 NA NA NA NA NA NA NA 0.992239405222561 TRUE NA ENSE00000873488_004 ENSE00000873488 004 19 16963835 16964004 + 45 90 35 A T 16963916 1528 82 CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCTTCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC 16853023 16853193 16853104 16853105 16853105 exon 37 0.411111111111111 CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCTTCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC mutant NA NA NA NA NA 174 115 0.955670767212953 0.893281486004415 0.924476126608684 0.907312668536017 0.902171315739932 0.910010761240951 0.969186545104343 NA NA 0.0456600059720021 -0.0759050590999278 0.904741992137975 0.939598653172647 NA -0.0151225265639628 NA FALSE NA 0.4 0.965 . missense_variant MODERATE SIN3B HGNC 19354 ENST00000248054 7/19 1 tolerated(0.31) benign(0.004) NA CAT A,T 8.236e-06 19:16853105 SIN3B HGNC Symbol protein_coding 50953 ENSG00000127511 ENSE00000873488 missense_variant 0.377573 0.20971 0.22399 0.732398 0.705169290143075 0 0.992239405222561 TRUE 4.06091e-06 ENSE00000873488_005 ENSE00000873488 005 19 16963835 16964004 + 45 90 35 C T 16963918 1529 84 CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATTGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC 16853023 16853193 16853106 16853107 16853107 exon 39 0.433333333333333 CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATTGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC mutant NA NA NA NA NA 559 267 0.8 0.800946335225495 0.800473167612748 0.907312668536017 0.902171315739932 0.910010761240951 0.969186545104343 NA NA -0.110010761240951 -0.168240209878848 0.904741992137975 0.939598653172647 NA -0.139125485559899 NA FALSE NA 0 -2.991 . synonymous_variant LOW SIN3B HGNC 19354 ENST00000248054 7/19 rs373826135 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 TCG C,T 4.942e-05 19:16853107 SIN3B HGNC Symbol protein_coding 50953 ENSG00000127511 ENSE00000873488 synonymous_variant 1.746828 0.16513 0.0328 0.732398 0.60129539889493 0 0.992239405222561 TRUE 3.24863e-05 ENSE00000873488_006 ENSE00000873488 006 19 16963835 16964004 + 45 90 35 G A 16963919 1530 85 CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCACTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC 16853023 16853193 16853107 16853108 16853108 exon 40 0.444444444444444 CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCACTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC mutant NA NA NA NA NA 30 1294 0.63192392844917 0.800390755049521 0.716157341749346 0.907312668536017 0.902171315739932 0.910010761240951 0.969186545104343 NA NA -0.278086832791781 -0.168795790054821 0.904741992137975 0.939598653172647 NA -0.223441311423301 NA FALSE NA 1 7.491 . missense_variant MODERATE SIN3B HGNC 19354 ENST00000248054 7/19 rs542264653 1 deleterious(0.03) possibly_damaging(0.845) A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 CGC G,A 2.471e-05 19:16853108 SIN3B HGNC Symbol protein_coding 50953 ENSG00000127511 ENSE00000873488 missense_variant 5.499267 0.98828 0.98646 0.732398 0.998731690439538 0 0.992239405222561 TRUE 2.84266e-05 ENSE00000873488_010 ENSE00000873488 010 19 16963835 16964004 + 45 90 35 C T 16963987 1534 153 CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGTTTCCATCTTGGGGATGC 16853023 16853193 16853175 16853176 16853176 downstr_intron 18 1.52941176470588 CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGTTTCCATCTTGGGGATGC CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC mutant NA NA NA NA NA 18 57 1 1 1 0.907312668536017 0.902171315739932 0.910010761240951 0.969186545104343 NA NA 0.0899892387590493 0.0308134548956572 0.904741992137975 0.939598653172647 NA 0.0604013468273533 NA FALSE NA 0 -0.551 . intron_variant MODIFIER SIN3B HGNC 19354 ENST00000248054 7/18 1 NA GCT C,T 8.236e-06 19:16853176 SIN3B HGNC Symbol protein_coding 50953 ENSG00000127511 ENSE00000873488 intron_variant 0.646529 0.11622 0.01995 0.106106 0.639710232096375 0.0862078 0.992239405222561 TRUE 4.06918e-06 ENSE00000873488_BRK ENSE00000873488 BRK 19 16963835 16964004 + 45 90 35 A,G; T,T NA NA NA CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACTTAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGCCGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC 16853023 16853193 NA NA NA NA NA NA CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACTTAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGCCGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC CCGGTGGGAGGCACAGTGTTAACTGCATAGAATTTCTCCCCACAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTGAGGGTGGGCCCTGGCTTCCATCTTGGGGATGC control 459 64 0 0 0 1179 254 0.0519005585144571 0.00126163807278376 0.0265810982936204 0.907312668536017 0.902171315739932 0.910010761240951 0.969186545104343 -0.907312668536017 -0.902171315739932 -0.858110202726494 -0.967924907031559 0.904741992137975 0.939598653172647 -0.904741992137975 -0.913017554879026 0.00827556274105146 TRUE TRUE NA NA NA NA NA SIN3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SIN3B NA NA NA ENSG00000127511 ENSE00000873488 NA NA NA NA NA NA NA 0.992239405222561 TRUE NA ENSE00000874520_000 ENSE00000874520 000 1 21548208 21548377 - 32 96 42 NA NA NA NA NA CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 NA NA NA NA NA NA CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG natural 15 11 1 0.999496144876102 0.999748072438051 1381 1776 0.993146727190717 0.995154026492845 0.994150376841781 1 0.999496144876102 0.993146727190717 0.995154026492845 0 0 0 0 0.999748072438051 0.994150376841781 0 0 0 FALSE FALSE NA NA NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00000874520 NA NA NA NA NA NA NA 0.999768645958376 TRUE NA ENSE00000874520_001 ENSE00000874520 001 1 21548208 21548377 - 32 96 42 T C 21548220 579 158 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACGTGCCACACATGG 21221714 21221884 21221726 21221727 21221727 downstr_intron 20 1.64516129032258 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACGTGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 701 1397 1 0.9993160338935 0.99965801694675 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 0.00416200740065442 0.999748072438051 0.994150376841781 NA 0.00550764010496851 NA FALSE NA 0 -0.864 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 17/17 1 NA ATG T,C 8.236e-06 1:21221727 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 intron_variant -0.093799 0.16159 0.00613 0.295142 0.374621409528105 0.0625752 0.999768645958376 TRUE 4.06058e-06 ENSE00000874520_002 ENSE00000874520 002 1 21548208 21548377 - 32 96 42 T C 21548228 580 150 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTGGGAAAACATGCCACACATGG 21221714 21221884 21221734 21221735 21221735 downstr_intron 12 1.38709677419355 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTGGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 659 204 0.999068556706589 0.997708514069951 0.99838853538827 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00592182951587183 0.00255448757710619 0.999748072438051 0.994150376841781 NA 0.00423815854648901 NA FALSE NA 0 -1.29 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 17/17 1 NA CTA T,C 8.236e-06 1:21221735 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 intron_variant 0.389724 0.17756 0.03513 0.295142 0.585604262594701 0.0801376 0.999768645958376 TRUE 4.06062e-06 ENSE00000874520_003 ENSE00000874520 003 1 21548208 21548377 - 32 96 42 C T 21548251 581 127 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGAGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221757 21221758 21221758 exon -12 0.885416666666667 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGAGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 119 157 1 1 1 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 0.00484597350715488 0.999748072438051 0.994150376841781 NA 0.00584962315821874 NA FALSE NA 0.997 4.103 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 17/18 1 tolerated(0.45) probably_damaging(0.965) NA CCC C,T 8.236e-06 1:21221758 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 missense_variant 3.487043 0.9907 0.96357 0.722319 0.99613684393925 0 0.999768645958376 TRUE 8.12117e-06 ENSE00000874520_005 ENSE00000874520 005 1 21548208 21548377 - 32 96 42 G C 21548261 583 117 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTGTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221767 21221768 21221768 exon -22 0.78125 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTGTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 1038 240 0.997475145411344 0.967056693529773 0.982265919470558 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.0043284182206268 -0.0280973329630726 0.999748072438051 0.994150376841781 NA -0.0118844573712229 NA FALSE NA 1 2.941 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 17/18 1 NA AGA G,C 8.236e-06 1:21221768 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 synonymous_variant 1.072281 0.98135 0.92385 0.722319 0.722775523820239 0 0.999768645958376 TRUE 4.06055e-06 ENSE00000874520_007 ENSE00000874520 007 1 21548208 21548377 - 32 96 42 G A 21548288 585 90 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCTACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221794 21221795 21221795 exon 48 0.5 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCTACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 217 38 1 1 1 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 0.00484597350715488 0.999748072438051 0.994150376841781 NA 0.00584962315821874 NA FALSE NA 0.99 -0.094 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 17/18 rs376856368 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0002 TGG G,A 4.942e-05 1:21221795 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 synonymous_variant 0.751595 0.9669 0.76134 0.722319 0.48308574295445 0 0.999768645958376 TRUE 3.24844e-05 ENSE00000874520_008 ENSE00000874520 008 1 21548208 21548377 - 32 96 42 G A 21548291 586 87 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTTCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221797 21221798 21221798 exon 45 0.46875 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTTCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 1623 596 0.999076306595918 0.999936120960264 0.999506213778091 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00592957940520011 0.00478209446741906 0.999748072438051 0.994150376841781 NA 0.00535583693630959 NA FALSE NA 0.999 0.307 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 17/18 rs201559694 1 NA GGA G,A 4.118e-05 1:21221798 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 synonymous_variant 0.435873 0.97232 0.80826 0.722319 0.531635234614987 0 0.999768645958376 TRUE 6.09083e-05 ENSE00000874520_009 ENSE00000874520 009 1 21548208 21548377 - 32 96 42 C T 21548294 587 84 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCACTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221800 21221801 21221801 exon 42 0.4375 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCACTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 1030 259 0.998145589242184 0.999852927490894 0.998999258366539 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00499886205146616 0.00469890099804859 0.999748072438051 0.994150376841781 NA 0.00484888152475738 NA FALSE NA 0 -5.657 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 17/18 1 NA GCG C,T 8.237e-06 1:21221801 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 synonymous_variant 1.589932 0.11058 0.02375 0.722319 0.419346606879459 0 0.999768645958376 TRUE 4.06062e-06 ENSE00000874520_010 ENSE00000874520 010 1 21548208 21548377 - 32 96 42 G A 21548295 588 83 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTTGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221801 21221802 21221802 exon 41 0.427083333333333 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTTGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 426 381 1 1 1 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 0.00484597350715488 0.999748072438051 0.994150376841781 NA 0.00584962315821874 NA FALSE NA 0 0.016 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 17/18 1 tolerated(0.43) benign(0) NA CGA G,A 8.236e-06 1:21221802 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 missense_variant 1.639722 0.37907 0.161 0.722319 0.877561866053171 0 0.999768645958376 TRUE 8.1211e-06 ENSE00000874520_012 ENSE00000874520 012 1 21548208 21548377 - 32 96 42 C G 21548300 590 78 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGACCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221806 21221807 21221807 exon 36 0.375 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGACCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 789 355 1 0.999554239858623 0.999777119929312 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 0.00440021336577801 0.999748072438051 0.994150376841781 NA 0.00562674308753031 NA FALSE NA 1 1.602 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 17/18 1 tolerated(0.18) benign(0.008) NA GCT C,G 6.589e-05 1:21221807 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 missense_variant 1.947513 0.97402 0.94605 0.722319 0.990644377646183 0 0.999768645958376 TRUE 2.84239e-05 ENSE00000874520_013 ENSE00000874520 013 1 21548208 21548377 - 32 96 42 C T 21548306 591 72 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGAGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221812 21221813 21221813 exon 30 0.3125 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGAGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 95 1074 1 1 1 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 0.00484597350715488 0.999748072438051 0.994150376841781 NA 0.00584962315821874 NA FALSE NA 0.072 -0.373 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 17/18 1 NA CCC C,T 1.647e-05 1:21221813 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 synonymous_variant 2.269275 0.97762 0.28488 0.722319 0.702152778665043 0 0.999768645958376 TRUE 8.1211e-06 ENSE00000874520_014 ENSE00000874520 014 1 21548208 21548377 - 32 96 42 G A 21548309 592 69 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAATGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221815 21221816 21221816 exon 27 0.28125 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAATGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 112 241 1 1 1 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 0.00484597350715488 0.999748072438051 0.994150376841781 NA 0.00584962315821874 NA FALSE NA 0 -2.053 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 17/18 rs201715054 1 NA CGT G,A 3.295e-05 1:21221816 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 synonymous_variant 1.495255 0.6493 0.08275 0.722319 0.649230904054988 0 0.999768645958376 TRUE 4.46668e-05 ENSE00000874520_015 ENSE00000874520 015 1 21548208 21548377 - 32 96 42 C T 21548312 593 66 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAAAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221818 21221819 21221819 exon 24 0.25 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAAAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 643 731 0.936762660012248 0.99847578484174 0.967619222426994 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA -0.0563840671784693 0.0033217583488947 0.999748072438051 0.994150376841781 NA -0.0265311544147873 NA FALSE NA 1 0.687 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 17/18 1 NA TCT C,T 8.236e-06 1:21221819 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 synonymous_variant 2.139854 0.98665 0.90357 0.722319 0.705594142499327 0 0.999768645958376 TRUE 4.06065e-06 ENSE00000874520_016 ENSE00000874520 016 1 21548208 21548377 - 32 96 42 T C 21548317 594 61 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGGAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221823 21221824 21221824 exon 19 0.197916666666667 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGGAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 114 1292 0.995210447697922 0.996907176052415 0.996058811875169 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00206372050720471 0.00175314955956996 0.999748072438051 0.994150376841781 NA 0.00190843503338733 NA FALSE NA 0.837 0.12 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 17/18 rs369348578 1 tolerated(0.25) benign(0.002) NA C:0 C:0.0001 TTC T,C 8.236e-06 1:21221824 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 missense_variant 2.151382 0.96315 0.36948 0.722319 0.989574346169202 0 0.999768645958376 TRUE NA ENSE00000874520_017 ENSE00000874520 017 1 21548208 21548377 - 32 96 42 G T 21548338 595 40 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCAAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221844 21221845 21221845 upstr_intron -3 -0.0476190476190476 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCAAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 164 724 0.995914525521143 0.999366719576354 0.997640622548749 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00276779833042573 0.0042126930835088 0.999748072438051 0.994150376841781 NA 0.00349024570696727 NA FALSE NA 0.999 1.487 . splice_region_variant&intron_variant LOW ECE1 HGNC 3146 ENST00000264205 16/17 rs371701738 1 NA T:0.0002 T:0 TGG G,T 8.236e-06 1:21221845 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 splice_region_variant 1.7846 0.97222 0.70261 0.139865 0.884939443151892 0.855106 0.999768645958376 TRUE 4.06078e-06 ENSE00000874520_018 ENSE00000874520 018 1 21548208 21548377 - 32 96 42 G A 21548342 596 36 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCTTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221848 21221849 21221849 upstr_intron -7 -0.142857142857143 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCTTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 1556 23 0.999283702004836 0.998327998473656 0.998805850239246 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00613697481411823 0.0031739719808106 0.999748072438051 0.994150376841781 NA 0.00465547339746442 NA FALSE NA 0.111 1.339 . splice_region_variant&intron_variant LOW ECE1 HGNC 3146 ENST00000264205 16/17 1 NA AGG G,A 8.236e-06 1:21221849 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 splice_region_variant 1.179591 0.38066 0.12165 0.099367 0.72615166322349 0.163367 0.999768645958376 TRUE 4.06075e-06 ENSE00000874520_019 ENSE00000874520 019 1 21548208 21548377 - 32 96 42 A G 21548344 597 34 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCCCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221850 21221851 21221851 upstr_intron -9 -0.19047619047619 CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCCCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 283 2494 0.997203845355282 0.964529108583439 0.98086647696936 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00405711816456455 -0.0306249179094065 0.999748072438051 0.994150376841781 NA -0.013283899872421 NA FALSE NA 0.01 0.139 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 16/17 1 NA GAG A,G 8.236e-06 1:21221851 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 non_coding_transcript_exon_variant 1.237459 0.2317 0.02082 0.099367 0.759467189699033 0.212937 0.999768645958376 TRUE 8.1215e-06 ENSE00000874520_020 ENSE00000874520 020 1 21548208 21548377 - 32 96 42 G C 21548347 598 31 CTGCCATGGGAACCCCTGAGCTTTGGTTTTGTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221853 21221854 21221854 upstr_intron -12 -0.261904761904762 CTGCCATGGGAACCCCTGAGCTTTGGTTTTGTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 174 599 1 0.999735881731118 0.999867940865559 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 0.00458185523827259 0.999748072438051 0.994150376841781 NA 0.0057175640237776 NA FALSE NA 0.022 1.232 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 16/17 1 NA AGA G,C 8.236e-06 1:21221854 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 non_coding_transcript_exon_variant 0.055162 0.31641 0.05629 0.099367 0.635411319595757 0.0939422 0.999768645958376 TRUE 4.06088e-06 ENSE00000874520_021 ENSE00000874520 021 1 21548208 21548377 - 32 96 42 C T 21548352 599 26 CTGCCATGGGAACCCCTGAGCTTTGATTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221858 21221859 21221859 upstr_intron -17 -0.380952380952381 CTGCCATGGGAACCCCTGAGCTTTGATTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 766 509 0.998377007276847 0.999689161849063 0.999033084562955 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00523028008612969 0.00453513535621752 0.999748072438051 0.994150376841781 NA 0.00488270772117361 NA FALSE NA 0 -0.73 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 16/17 1 NA ACC C,T 8.236e-06 1:21221859 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 non_coding_transcript_exon_variant 0.135272 0.22467 0.06424 0.099367 0.501134295371576 0.0563111 0.999768645958376 TRUE 4.06095e-06 ENSE00000874520_022 ENSE00000874520 022 1 21548208 21548377 - 32 96 42 G A 21548357 600 21 CTGCCATGGGAACCCCTGAGTTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221863 21221864 21221864 upstr_intron -22 -0.5 CTGCCATGGGAACCCCTGAGTTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 558 1481 0.997075394247227 0.998413699769686 0.997744547008456 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00392866705650929 0.00325967327684074 0.999748072438051 0.994150376841781 NA 0.00359417016667501 NA FALSE NA 0 -0.146 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:21221864 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00000874520 non_coding_transcript_exon_variant 0.430823 0.21081 0.02596 0.099367 0.643426186647007 0.0563111 0.999768645958376 TRUE 1.6245e-05 ENSE00000874520_023 ENSE00000874520 023 1 21548208 21548377 - 32 96 42 G C 21548357 601 21 CTGCCATGGGAACCCCTGAGGTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 21221863 21221864 21221864 upstr_intron -22 -0.5 CTGCCATGGGAACCCCTGAGGTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG mutant NA NA NA NA NA 327 807 1 0.994929750677143 0.997464875338572 1 0.999496144876102 0.993146727190717 0.995154026492845 NA NA 0.00685327280928261 -0.000224275815701724 0.999748072438051 0.994150376841781 NA 0.00331449849679044 NA FALSE NA 0 -0.146 NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00000874520 non_coding_transcript_exon_variant -0.004373 0.2209 0.09491 0.099367 0.632161985285088 0.0563111 0.999768645958376 TRUE 4.06124e-06 ENSE00000874520_BRK ENSE00000874520 BRK 1 21548208 21548377 - 32 96 42 A,G; T,T NA NA NA CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCTTGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGCCGAGTCCATTAGGAAAACATGCCACACATGG 21221714 21221884 NA NA NA NA NA NA CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCTTGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGCCGAGTCCATTAGGAAAACATGCCACACATGG CTGCCATGGGAACCCCTGAGCTTTGGTTTTCTCTCCTCCCAGGCTTACCAGAACTGGGTGAAGAAGAACGGGGCTGAGCACTCGCTCCCCACCCTGGGCCTCACCAATAACCAGCTCTTCTTCCTGGGCTTTGCACAGGTGAGTCCATTAGGAAAACATGCCACACATGG control 328 93 0 0 0 362 457 0.0327337117247803 0 0.0163668558623901 1 0.999496144876102 0.993146727190717 0.995154026492845 -1 -0.999496144876102 -0.960413015465937 -0.995154026492845 0.999748072438051 0.994150376841781 -0.999748072438051 -0.977783520979391 0.0219645514586601 TRUE TRUE NA NA NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00000874520 NA NA NA NA NA NA NA 0.999768645958376 TRUE NA ENSE00000874677_000 ENSE00000874677 000 19 8321055 8321224 + 65 51 54 NA NA NA NA NA CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 NA NA NA NA NA NA CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT natural 2395 3241 0.830909592871528 0.843220048462661 0.837064820667095 1146 2256 0.775941876563766 0.809163764382981 0.792552820473374 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 0 0 0 0 0.837064820667095 0.792552820473374 0 0 0 FALSE FALSE NA NA NA NA NA CERS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS4 NA NA NA ENSG00000090661 ENSE00003643765 NA NA NA NA NA NA NA 2.04162899798769e-13 FALSE NA ENSE00000874677_004 ENSE00000874677 004 19 8321055 8321224 + 65 51 54 C T 8321103 697 49 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGATACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256218 8256219 8256219 upstr_intron -17 -0.246153846153846 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGATACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 827 330 0.803770959402031 0.8 0.801885479701015 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.0278290828382646 -0.00916376438298117 0.837064820667095 0.792552820473374 NA 0.0093326592276417 NA FALSE NA 0.032 0.091 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 rs368000652 1 NA T:0.0002 T:0 ACA C,T 1.648e-05 19:8256219 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 non_coding_transcript_exon_variant 0.590916 0.14738 0.00887 0.256867 0.67933845199323 0.057021 2.04162899798769e-13 FALSE 4.22547e-06 ENSE00000874677_005 ENSE00000874677 005 19 8321055 8321224 + 65 51 54 A G 8321104 698 50 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACGCCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256219 8256220 8256220 upstr_intron -16 -0.230769230769231 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACGCCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 191 79 0.0502927591272113 0.00821855291911971 0.0292556560231655 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA -0.725649117436555 -0.800945211463862 0.837064820667095 0.792552820473374 NA -0.763297164450208 NA TRUE NA 0 -0.669 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA CAC A,G 8.238e-06 19:8256220 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 non_coding_transcript_exon_variant 0.609517 0.11712 0.01205 0.256867 0.772867579566118 0.057021 2.04162899798769e-13 FALSE 4.21063e-06 ENSE00000874677_006 ENSE00000874677 006 19 8321055 8321224 + 65 51 54 A G 8321108 699 54 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCGTTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256223 8256224 8256224 upstr_intron -12 -0.169230769230769 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCGTTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 103 780 0.8 0.68508597974882 0.74254298987441 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.024058123436234 -0.124077784634161 0.837064820667095 0.792552820473374 NA -0.0500098305989634 NA FALSE NA 0 -0.438 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA CAT G,G 8.238e-06 19:8256224 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 non_coding_transcript_exon_variant 0.624582 0.06034 0.00403 0.256867 0.765933555415945 0.0997788 2.04162899798769e-13 FALSE 4.18228e-06 ENSE00000874677_007 ENSE00000874677 007 19 8321055 8321224 + 65 51 54 A G 8321118 700 64 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCGGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256233 8256234 8256234 upstr_intron -2 -0.0153846153846154 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCGGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 512 385 0 0 0 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA -0.775941876563766 -0.809163764382981 0.837064820667095 0.792552820473374 NA -0.792552820473374 NA TRUE NA 1 5.894 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 rs545299593 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAG A,G 8.237e-06 19:8256234 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 splice_acceptor_variant 3.284227 0.98557 0.98555 0.256867 0.982290375556862 0.720264 2.04162899798769e-13 FALSE NA ENSE00000874677_009 ENSE00000874677 009 19 8321055 8321224 + 65 51 54 T A 8321126 702 72 AACTGTGATCATCGCCCTCACCCTCCAAGCATTCACACACACTCTGCCACTCACCTGGTTTGGGTACCTGTCCCAGCACATTACTGGTGCCCACAGCCTTGACTCCTGCAGGGAAATGGGTGTCAGGCTGTGCAGAGGTGAGAATCCAACCTCCCACCCTGGGTCTGCGG 8256170 8256340 8256241 8256242 8256242 exon 7 0.137254901960784 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCAAGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 1219 11 0.803167842561117 0.8 0.801583921280558 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.0272259659973507 -0.00916376438298117 0.837064820667095 0.792552820473374 NA 0.00903110080718478 NA FALSE NA 1 5.055 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA ATG T,A 1.647e-05 19:8256242 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 missense_variant 4.966892 0.98289 0.9735 0.67177 0.985767407377898 0 2.04162899798769e-13 FALSE 2.4654e-05 ENSE00000874677_012 ENSE00000874677 012 19 8321055 8321224 + 65 51 54 C T 8321136 705 82 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGTACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256251 8256252 8256252 exon 17 0.333333333333333 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGTACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 457 304 0.00107143370111275 0.00105372119088308 0.00106257744599792 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA -0.774870442862653 -0.808110043192098 0.837064820667095 0.792552820473374 NA -0.791490243027376 NA TRUE NA 0.095 0.184 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:8256252 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 missense_variant 1.604608 0.12868 0.04498 0.67177 0.867554543294733 0 2.04162899798769e-13 FALSE 0.000106515 ENSE00000874677_013 ENSE00000874677 013 19 8321055 8321224 + 65 51 54 C G 8321136 706 82 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGGACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256251 8256252 8256252 exon 17 0.333333333333333 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGGACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 156 61 0.8 0.969528788971653 0.884764394485826 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.024058123436234 0.160365024588671 0.837064820667095 0.792552820473374 NA 0.0922115740124527 NA FALSE NA 0.095 0.184 NA NA NA CERS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS4 NA NA NA ENSG00000090661 ENSE00003643765 missense_variant 0.964109 0.12505 0.04264 0.67177 0.912705123286031 0 2.04162899798769e-13 FALSE 8.19343e-06 ENSE00000874677_014 ENSE00000874677 014 19 8321055 8321224 + 65 51 54 G A 8321153 707 99 AACTGTGATCATCGCCCTCACCCTCCAAGCATTCACACACACTCTGCCACTCACCTGGTTTGGGTACCTGTTCCAGCACATTACTGGTGCCCACAGCCATGACTCCTGCAGGGAAATGGGTGTCAGGCTGTGCAGAGGTGAGAATCCAACCTCCCACCCTGGGTCTGCGG 8256170 8256340 8256268 8256269 8256269 exon -18 0.666666666666667 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGAACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 374 244 0.8 0.801626773804285 0.800813386902143 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.024058123436234 -0.00753699057869595 0.837064820667095 0.792552820473374 NA 0.00826056642876905 NA FALSE NA 0.926 1.97 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA GGA G,A 8.237e-06 19:8256269 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 missense_variant 0.986295 0.92885 0.70203 0.67177 0.380212389593598 0 2.04162899798769e-13 FALSE 8.16807e-06 ENSE00000874677_015 ENSE00000874677 015 19 8321055 8321224 + 65 51 54 A C 8321166 708 112 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAACCCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256281 8256282 8256282 exon -5 0.92156862745098 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAACCCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 14 27 0.8 0.8 0.8 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.024058123436234 -0.00916376438298117 0.837064820667095 0.792552820473374 NA 0.00744717952662644 NA FALSE NA 0 0.869 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA AAC A,C 8.237e-06 19:8256282 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 missense_variant -0.759686 0.17483 0.1052 0.67177 0.376379271430337 0 2.04162899798769e-13 FALSE 4.08313e-06 ENSE00000874677_018 ENSE00000874677 018 19 8321055 8321224 + 65 51 54 G T 8321181 711 127 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCATAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256296 8256297 8256297 downstr_intron 11 1.20754716981132 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCATAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 88 91 0.77619220092946 0.8 0.78809610046473 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.000250324365694055 -0.00916376438298117 0.837064820667095 0.792552820473374 NA -0.00445672000864356 NA FALSE NA 0 -0.159 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:8256297 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 intron_variant -0.333735 0.11739 0.01211 0.069865 0.525110748255996 0.0728932 2.04162899798769e-13 FALSE 4.09994e-05 ENSE00000874677_019 ENSE00000874677 019 19 8321055 8321224 + 65 51 54 G A 8321181 712 127 AACTGTGATCATCGCCCTCACCCTCCAAGCATTCACACACACTTTGCCACTCACCTGGTTTGGGTACCTGTCCCAGCACATTACTGGTGCCCACAGCCATGACTCCTGCAGGGAAATGGGTGTCAGGCTGTGCAGAGGTGAGAATCCAACCTCCCACCCTGGGTCTGCGG 8256170 8256340 8256296 8256297 8256297 downstr_intron 11 1.20754716981132 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAAAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 319 404 0.803376944255871 0.80035741039168 0.801867177323776 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.0274350676921055 -0.00880635399130103 0.837064820667095 0.792552820473374 NA 0.00931435685040222 NA FALSE NA 0 -0.159 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS4 NA NA NA ENSG00000090661 ENSE00003643765 intron_variant -0.16301 0.10621 0.01836 0.069865 0.462173201474848 0.0728932 2.04162899798769e-13 FALSE 4.09994e-06 ENSE00000874677_022 ENSE00000874677 022 19 8321055 8321224 + 65 51 54 T G 8321186 715 132 AACTGTGATCATCGCCCTCACCCTCCAAGCATTCACACCCACTCTGCCACTCACCTGGTTTGGGTACCTGTCCCAGCACATTACTGGTGCCCACAGCCATGACTCCTGCAGGGAAATGGGTGTCAGGCTGTGCAGAGGTGAGAATCCAACCTCCCACCCTGGGTCTGCGG 8256170 8256340 8256301 8256302 8256302 downstr_intron 16 1.30188679245283 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGGGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 20 10 0.709226061755172 0.8 0.754613030877586 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA -0.0667158148085939 -0.00916376438298117 0.837064820667095 0.792552820473374 NA -0.0379397895957875 NA FALSE NA 0 -2.712 NA NA NA CERS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:8256302 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 intron_variant -0.595306 0.05735 0.00476 0.069865 0.336424546121676 0.0563923 2.04162899798769e-13 FALSE 1.22953e-05 ENSE00000874677_025 ENSE00000874677 025 19 8321055 8321224 + 65 51 54 G C 8321202 718 148 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGACGGTGAGGGCGATGATCACAGTT 8256170 8256340 8256317 8256318 8256318 downstr_intron 32 1.60377358490566 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGACGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 535 89 0.8 0.8 0.8 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.024058123436234 -0.00916376438298117 0.837064820667095 0.792552820473374 NA 0.00744717952662644 NA FALSE NA 0 -0.065 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 1 NA AGG G,C 1.648e-05 19:8256318 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 intron_variant -0.10514 0.17834 0.07009 0.069865 0.357693746438965 0.0563923 2.04162899798769e-13 FALSE 8.31628e-06 ENSE00000874677_027 ENSE00000874677 027 19 8321055 8321224 + 65 51 54 C T 8321211 720 157 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGTGATGATCACAGTT 8256170 8256340 8256326 8256327 8256327 downstr_intron 41 1.77358490566038 CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGTGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT mutant NA NA NA NA NA 110 190 0.801463877239393 0.800760046750449 0.801111961994921 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 NA NA 0.0255220006756268 -0.00840371763253245 0.837064820667095 0.792552820473374 NA 0.00855914152154719 NA FALSE NA 0 -0.76 . upstream_gene_variant MODIFIER CERS4 HGNC 23747 ENST00000558302 rs368613104 1 NA T:0.0002 T:0 GCG C,T 4.943e-05 19:8256327 CERS4 HGNC Symbol protein_coding 55685 ENSG00000090661 ENSE00003643765 intron_variant -0.187386 0.08668 0.00647 0.069865 0.376296421755708 0.0988926 2.04162899798769e-13 FALSE 6.77932e-05 ENSE00000874677_BRK ENSE00000874677 BRK 19 8321055 8321224 + 65 51 54 A,G; T,T NA NA NA CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCTTGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGCCGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT 8256170 8256340 NA NA NA NA NA NA CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCTTGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGCCGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT CCGCAGACCCAGGGTGGGAGGTTGGATTCTCACCTCTGCACAGCCTGACACCCATTTCCCTGCAGGAGTCATGGCTGTGGGCACCAGTAATGTGCTGGGACAGGTACCCAAACCAGGTGAGTGGCAGAGTGTGTGTGAATGCTTGGAGGGTGAGGGCGATGATCACAGTT control 330 326 0.00398767679054614 0.00199591305681935 0.00299179492368275 NA NA NA NA NA 0.830909592871528 0.843220048462661 0.775941876563766 0.809163764382981 -0.826921916080981 -0.841224135405842 NA NA 0.837064820667095 0.792552820473374 -0.834073025743412 NA NA NA TRUE NA NA NA NA NA CERS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS4 NA NA NA ENSG00000090661 ENSE00003643765 NA NA NA NA NA NA NA 2.04162899798769e-13 FALSE NA ENSE00000880492_000 ENSE00000880492 000 22 42209701 42209870 + 54 72 44 NA NA NA NA NA CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 NA NA NA NA NA NA GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG natural 906 1379 0.854738473987297 0.842762309429676 0.848750391708486 2761 2380 0.8721984877975 0.931041623601077 0.901620055699288 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 0 0 0 0 0.848750391708486 0.901620055699288 0 0 0 FALSE FALSE NA NA NA NA NA CCDC134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC134 NA NA NA ENSG00000100147 ENSE00000880492 NA NA NA NA NA NA NA 0.000741172780034662 FALSE NA ENSE00000880492_003 ENSE00000880492 003 22 42209701 42209870 + 54 72 44 A G 42209727 1140 27 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCACCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813722 41813723 41813723 upstr_intron -28 -0.5 GGTGAGCAGGACTCAGGAGAAGGCAGGTGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 277 170 1 1 1 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.1278015122025 0.068958376398923 0.848750391708486 0.901620055699288 NA 0.0983799443007115 NA FALSE NA 0 0.662 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA GAT A,G 8.236e-06 22:41813723 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.421767 0.19415 0.10201 0.156188 0.697935997136456 0.186475 0.000741172780034662 FALSE 4.06279e-06 ENSE00000880492_004 ENSE00000880492 004 22 42209701 42209870 + 54 72 44 G A 42209729 1141 29 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATTATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813724 41813725 41813725 upstr_intron -26 -0.462962962962963 GGTGAGCAGGACTCAGGAGAAGGCAGATAATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 145 1750 1 0.999866081785606 0.999933040892803 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.1278015122025 0.0688244581845292 0.848750391708486 0.901620055699288 NA 0.0983129851935146 NA FALSE NA 0 -0.208 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA TGA G,A 8.236e-06 22:41813725 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.75828 0.24603 0.06053 0.156188 0.648355728766393 0.124628 0.000741172780034662 FALSE 4.06273e-06 ENSE00000880492_005 ENSE00000880492 005 22 42209701 42209870 + 54 72 44 T C 42209731 1142 31 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCGTCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813726 41813727 41813727 upstr_intron -24 -0.425925925925926 GGTGAGCAGGACTCAGGAGAAGGCAGATGACGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 887 363 0.70014745000261 0.800397783225246 0.750272616613928 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.17205103779489 -0.130643840375831 0.848750391708486 0.901620055699288 NA -0.15134743908536 NA FALSE NA 0.008 1.261 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 rs373861488 1 NA C:0 C:0.0001 ATG T,C 2.471e-05 22:41813727 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.693013 0.31647 0.32582 0.156188 0.725434924237046 0.701101 0.000741172780034662 FALSE 1.21872e-05 ENSE00000880492_006 ENSE00000880492 006 22 42209701 42209870 + 54 72 44 A G 42209733 1143 33 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGCCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813728 41813729 41813729 upstr_intron -22 -0.388888888888889 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGGCTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 353 373 0.00108521152657142 0.0327535408718035 0.0169193761991875 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.871113276270929 -0.898288082729274 0.848750391708486 0.901620055699288 NA -0.884700679500101 NA TRUE NA 0.013 1.097 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA GAC A,G 1.647e-05 22:41813729 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.773343 0.32257 0.42984 0.156188 0.721683100565366 0.647385 0.000741172780034662 FALSE 1.21866e-05 ENSE00000880492_009 ENSE00000880492 009 22 42209701 42209870 + 54 72 44 T C 42209742 1146 42 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGGAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813737 41813738 41813738 upstr_intron -13 -0.222222222222222 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTCCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 107 34 0.95 0.804251166874056 0.877125583437028 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.0778015122025 -0.126790456727021 0.848750391708486 0.901620055699288 NA -0.0244944722622606 NA FALSE NA 0.004 1.02 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA TTC T,C 8.236e-06 22:41813738 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant -0.073143 0.16662 0.06589 0.156188 0.677070297338575 0.134403 0.000741172780034662 FALSE 8.12282e-06 ENSE00000880492_011 ENSE00000880492 011 22 42209701 42209870 + 54 72 44 T C 42209745 1148 45 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGGAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813740 41813741 41813741 upstr_intron -10 -0.166666666666667 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTCCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 977 36 0.886412632398183 0.816304404817786 0.851358518607984 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.0142141446006826 -0.114737218783291 0.848750391708486 0.901620055699288 NA -0.050261537091304 NA FALSE NA 0.006 3.335 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA TTC T,C 8.236e-06 22:41813741 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.422287 0.29146 0.16716 0.156188 0.714463507368245 0.095656 0.000741172780034662 FALSE 4.06128e-06 ENSE00000880492_012 ENSE00000880492 012 22 42209701 42209870 + 54 72 44 C T 42209746 1149 46 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATAAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813741 41813742 41813742 upstr_intron -9 -0.148148148148148 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTTATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 143 455 1 1 1 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.1278015122025 0.068958376398923 0.848750391708486 0.901620055699288 NA 0.0983799443007115 NA FALSE NA 0.002 0.138 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA TCA C,T 5.765e-05 22:41813742 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.433891 0.23717 0.07867 0.156188 0.662741146118672 0.152602 0.000741172780034662 FALSE 7.31077e-05 ENSE00000880492_013 ENSE00000880492 013 22 42209701 42209870 + 54 72 44 G A 42209766 1150 66 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGTTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813761 41813762 41813762 exon 12 0.166666666666667 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAACTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 153 442 0.8 0.828318675605215 0.814159337802608 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.0721984877974999 -0.102722947995862 0.848750391708486 0.901620055699288 NA -0.0874607178966809 NA FALSE NA 1 2.918 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA AGC G,A 1.647e-05 22:41813762 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 synonymous_variant 0.695761 0.97896 0.94527 0.706548 0.46515251449685 0 0.000741172780034662 FALSE 8.12176e-06 ENSE00000880492_014 ENSE00000880492 014 22 42209701 42209870 + 54 72 44 G C 42209785 1151 85 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTGTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813780 41813781 41813781 exon 31 0.430555555555556 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAACACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 1862 135 0.773367942181105 0.834530143678213 0.803949042929659 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.0988305456163945 -0.096511479922864 0.848750391708486 0.901620055699288 NA -0.0976710127696293 NA FALSE NA 1 3.265 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA AGA G,C 1.647e-05 22:41813781 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 missense_variant 3.709722 0.97892 0.90432 0.562547 0.982414987922998 0 0.000741172780034662 FALSE 8.1213e-06 ENSE00000880492_015 ENSE00000880492 015 22 42209701 42209870 + 54 72 44 A T 42209786 1152 86 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGACTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813781 41813782 41813782 exon 32 0.444444444444444 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGTCTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 117 484 0.8 0.79587667202729 0.797938336013645 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.0721984877974999 -0.135164951573787 0.848750391708486 0.901620055699288 NA -0.103681719685643 NA FALSE NA 1 4.637 NA NA NA CCDC134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:41813782 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 missense_variant 4.025711 0.98663 0.92217 0.562547 0.988424231569217 0 0.000741172780034662 FALSE 0.00127098 ENSE00000880492_017 ENSE00000880492 017 22 42209701 42209870 + 54 72 44 A G 42209792 1154 92 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGCTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813787 41813788 41813788 exon -35 0.527777777777778 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAGCTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 110 449 0.348099235054814 0.541549016439805 0.444824125747309 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.524099252742686 -0.389492607161272 0.848750391708486 0.901620055699288 NA -0.456795929951979 NA FALSE NA 1 8.356 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA AAC A,G 8.236e-06 22:41813788 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 missense_variant 1.928889 0.99321 0.99274 0.562547 0.991833975905685 0 0.000741172780034662 FALSE 4.06078e-06 ENSE00000880492_018 ENSE00000880492 018 22 42209701 42209870 + 54 72 44 C T 42209802 1155 102 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGATTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813797 41813798 41813798 exon -25 0.666666666666667 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAATCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 24 91 0.877684162940792 0.95 0.913842081470396 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.00548567514329246 0.0189583763989229 0.848750391708486 0.901620055699288 NA 0.0122220257711077 NA FALSE NA 1 1.531 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA ACC C,T 3.295e-05 22:41813798 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 synonymous_variant 1.53945 0.98175 0.83312 0.6512 0.656533940052139 0 0.000741172780034662 FALSE 3.2486e-05 ENSE00000880492_020 ENSE00000880492 020 22 42209701 42209870 + 54 72 44 T C 42209813 1157 113 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCGGTTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813808 41813809 41813809 exon -14 0.819444444444444 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAACCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 986 72 0.812171302217462 0.947836748335373 0.880004025276418 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.0600271855800375 0.016795124734296 0.848750391708486 0.901620055699288 NA -0.0216160304228707 NA FALSE NA 0.064 0.164 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA ATC T,C 8.236e-06 22:41813809 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 missense_variant 0.13521 0.57084 0.10012 0.6512 0.379601943658152 0 0.000741172780034662 FALSE 4.06078e-06 ENSE00000880492_021 ENSE00000880492 021 22 42209701 42209870 + 54 72 44 C G 42209814 1158 114 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCCATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813809 41813810 41813810 exon -13 0.833333333333333 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATGGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 725 1055 0.939528659470131 0.963009318066508 0.951268988768319 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.0673301716726308 0.0319676944654311 0.848750391708486 0.901620055699288 NA 0.049648933069031 NA FALSE NA 0.03 -0.521 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:41813810 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 missense_variant 1.544236 0.57336 0.06892 0.6512 0.820052245157669 0 0.000741172780034662 FALSE 3.2487e-05 ENSE00000880492_022 ENSE00000880492 022 22 42209701 42209870 + 54 72 44 C T 42209814 1159 114 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGCGGTCAATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813809 41813810 41813810 exon -13 0.833333333333333 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATTGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 45 131 0.810689442774313 0.676300352412086 0.743494897593199 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.0615090450231872 -0.254741271188991 0.848750391708486 0.901620055699288 NA -0.158125158106089 NA FALSE NA 0.03 -0.521 NA NA NA CCDC134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC134 NA NA NA ENSG00000100147 ENSE00000880492 synonymous_variant 2.238377 0.58943 0.08921 0.6512 0.71048239395513 0 0.000741172780034662 FALSE 1.62435e-05 ENSE00000880492_024 ENSE00000880492 024 22 42209701 42209870 + 54 72 44 G A 42209819 1161 119 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTGTGTGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813814 41813815 41813815 exon -8 0.902777777777778 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCACACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 42 229 0.803829782492254 0.808213736479058 0.806021759485656 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.0683687053052464 -0.122827887122019 0.848750391708486 0.901620055699288 NA -0.0955982962136329 NA FALSE NA 0 -0.309 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA CGC G,A 8.236e-06 22:41813815 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 missense_variant 1.398903 0.24145 0.06842 0.6512 0.823468937161413 0 0.000741172780034662 FALSE 8.12176e-06 ENSE00000880492_025 ENSE00000880492 025 22 42209701 42209870 + 54 72 44 C T 42209822 1162 122 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCACCTCTATGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813817 41813818 41813818 exon -5 0.944444444444444 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCATAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 960 864 0.794165508771292 0.907221087584479 0.850693298177886 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA -0.078032979026208 -0.0238205360165976 0.848750391708486 0.901620055699288 NA -0.0509267575214028 NA FALSE NA 0.036 2.744 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 rs201507268 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0 ACA C,T 3.295e-05 22:41813818 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 missense_variant 2.411678 0.70568 0.42936 0.6512 0.988616826270104 0 0.000741172780034662 FALSE 3.24873e-05 ENSE00000880492_026 ENSE00000880492 026 22 42209701 42209870 + 54 72 44 C T 42209836 1163 136 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTAGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813831 41813832 41813832 downstr_intron 10 1.23255813953488 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCTAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 285 46 0.95 0.953625842709653 0.951812921354826 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.0778015122024999 0.022584219108576 0.848750391708486 0.901620055699288 NA 0.0501928656555379 NA FALSE NA 0 -0.74 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA CCA C,T 8.236e-06 22:41813832 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.483923 0.11317 0.02952 0.099367 0.792750495133177 0.124983 0.000741172780034662 FALSE 8.12236e-06 ENSE00000880492_027 ENSE00000880492 027 22 42209701 42209870 + 54 72 44 A G 42209837 1164 137 CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCCGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813832 41813833 41813833 downstr_intron 11 1.25581395348837 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCGGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 383 280 0.982185341699156 0.96643093121203 0.974308136455593 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.109986853901656 0.0353893076109526 0.848750391708486 0.901620055699288 NA 0.0726880807563042 NA FALSE NA 0 -0.379 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA CAG A,G 8.236e-06 22:41813833 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.405038 0.13552 0.00334 0.099367 0.568941104327385 0.069984 0.000741172780034662 FALSE 4.06111e-06 ENSE00000880492_028 ENSE00000880492 028 22 42209701 42209870 + 54 72 44 C T 42209842 1165 142 CAGCAGAGGCAAAGCAGACACAGGCATAAGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813837 41813838 41813838 downstr_intron 16 1.37209302325581 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCTTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 951 160 0.906656206885022 0.87137429383818 0.889015250361601 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.0344577190875219 -0.0596673297628971 0.848750391708486 0.901620055699288 NA -0.0126048053376876 NA FALSE NA 0 -0.442 . intron_variant MODIFIER CCDC134 HGNC 26185 ENST00000402061 3/3 1 NA CCT C,T 8.237e-06 22:41813838 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.442029 0.26633 0.04154 0.099367 0.688737772927029 0.0709675 0.000741172780034662 FALSE 4.0624e-06 ENSE00000880492_030 ENSE00000880492 030 22 42209701 42209870 + 54 72 44 A G 42209844 1167 144 CAGCAGAGGCAAAGCAGACACAGGCACAGGCCCTGGCAGCTCACCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATCTGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 41813839 41813840 41813840 downstr_intron 18 1.41860465116279 GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTGTGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG mutant NA NA NA NA NA 584 943 0.953797079515992 0.941754116070931 0.947775597793462 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 NA NA 0.0815985917184925 0.0107124924698538 0.848750391708486 0.901620055699288 NA 0.0461555420941732 NA FALSE NA 0 -0.094 NA NA NA CCDC134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:41813840 CCDC134 HGNC Symbol protein_coding 25620 ENSG00000100147 ENSE00000880492 intron_variant 0.147977 0.14752 0.0047 0.099367 0.558869218764639 0.0709675 0.000741172780034662 FALSE 4.06246e-06 ENSE00000880492_BRK ENSE00000880492 BRK 22 42209701 42209870 + 54 72 44 A,G; T,T NA NA NA CAGCAGAGGCAAAGCAGACACAGGCATAGGCCCTGGCAGCTCGGCTCTGTGCGGTCGATTTTAAATGGGTTCTGGAAGTTGGAGTCTTTCTCACTGATCCCCAGCTCCTGGGCCATAAGCAGATGAAGAAACACTAGTCATCATCTGCCTTCTCCTGAGTCCTGCTCACC 41813696 41813866 NA NA NA NA NA NA GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCTTATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGCCGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG GGTGAGCAGGACTCAGGAGAAGGCAGATGATGACTAGTGTTTCTTCATCTGCAGATGGCCCAGGAGCTGGGGATCAGTGAGAAAGACTCCAACTTCCAGAACCCATTTAAAATCGACCGCACAGAGGTGAGCTGCCAGGGCCTATGCCTGTGTCTGCTTTGCCTCTGCTG control 110 204 0 0 0 NA NA NA NA NA 0.854738473987297 0.842762309429676 0.8721984877975 0.931041623601077 -0.854738473987297 -0.842762309429676 NA NA 0.848750391708486 0.901620055699288 -0.848750391708486 NA NA NA TRUE NA NA NA NA NA CCDC134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC134 NA NA NA ENSG00000100147 ENSE00000880492 NA NA NA NA NA NA NA 0.000741172780034662 FALSE NA ENSE00000883832_000 ENSE00000883832 000 15 40581437 40581606 - 36 87 47 NA NA NA NA NA CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 NA NA NA NA NA NA TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG natural 46 57 0.960274619199778 0.966597208385013 0.963435913792395 1066 1103 0.928666652339361 0.99333796141203 0.961002306875695 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 0 0 0 0 0.963435913792395 0.961002306875695 0 0 0 FALSE FALSE NA NA NA NA NA PLCB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLCB2 NA NA NA ENSG00000137841 ENSE00003639564 NA NA NA NA NA NA NA 3.01690271048763e-12 FALSE NA ENSE00000883832_001 ENSE00000883832 001 15 40581437 40581606 - 36 87 47 G A 40581447 373 160 CAGTTCTGCTAGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289245 40289246 40289246 downstr_intron 26 1.74285714285714 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCTAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 538 489 0.999232545734191 0.977938026127434 0.988585285930812 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.07056589339483 -0.0153999352845963 0.963435913792395 0.961002306875695 NA 0.0275829790551169 NA FALSE NA 0.108 0.805 . intron_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 28/28 1 NA TGG G,A 1.655e-05 15:40289246 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 non_coding_transcript_exon_variant 0.183095 0.31708 0.13292 0.252514 0.583794354420919 0.0509707 3.01690271048763e-12 FALSE 8.12902e-06 ENSE00000883832_002 ENSE00000883832 002 15 40581437 40581606 - 36 87 47 G T 40581450 374 157 CAGTTCTGCTGGGTGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289248 40289249 40289249 downstr_intron 23 1.65714285714286 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACACCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 22 280 0.811702792980481 1 0.905851396490241 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA -0.11696385935888 0.00666203858796999 0.963435913792395 0.961002306875695 NA -0.0551509103854548 NA FALSE NA 0.006 0.077 . intron_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 28/28 rs369586957 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 T:0.0003 T:0 GGG G,T 0.0006454 15:40289249 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 non_coding_transcript_exon_variant -0.046448 0.19562 0.0386 0.252514 0.508349430094209 0.0509707 3.01690271048763e-12 FALSE 0.0005323 ENSE00000883832_003 ENSE00000883832 003 15 40581437 40581606 - 36 87 47 G A 40581451 375 156 CAGTTCTGCTGGGGATCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289249 40289250 40289250 downstr_intron 22 1.62857142857143 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGATCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 33 1094 1 0.973228218138572 0.986614109069286 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0713333476606393 -0.0201097432734579 0.963435913792395 0.961002306875695 NA 0.0256118021935907 NA FALSE NA 0.002 -0.103 . intron_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 28/28 1 NA GGT G,A 8.274e-06 15:40289250 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 non_coding_transcript_exon_variant -0.124433 0.18904 0.05961 0.252514 0.388883896820287 0.0509707 3.01690271048763e-12 FALSE 4.06319e-06 ENSE00000883832_005 ENSE00000883832 005 15 40581437 40581606 - 36 87 47 C T 40581465 377 142 CAGTTCTGCTGGGGGTCCCAGTAGTGAATCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289263 40289264 40289264 downstr_intron 8 1.22857142857143 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGATTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 202 28 1 1 1 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0713333476606393 0.00666203858796999 0.963435913792395 0.961002306875695 NA 0.0389976931243046 NA FALSE NA 0 -0.231 . splice_region_variant&intron_variant&NMD_transcript_variant LOW PLCB2 HGNC 9055 ENST00000558588 28/28 1 NA ACC C,T 8.274e-06 15:40289264 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 splice_region_variant -0.183043 0.16672 0.05555 0.252514 0.537337974183588 0.0488149 3.01690271048763e-12 FALSE 1.21843e-05 ENSE00000883832_013 ENSE00000883832 013 15 40581437 40581606 - 36 87 47 G T 40581510 385 97 CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCTCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289308 40289309 40289309 exon -38 0.574712643678161 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGAGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 59 445 1 0.997920719790532 0.998960359895266 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0713333476606393 0.00458275837850164 0.963435913792395 0.961002306875695 NA 0.0379580530195704 NA FALSE NA 0.996 1.664 NA NA NA PLCB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40289309 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 missense_variant 2.966692 0.66369 0.5302 0.695654 0.624050895981365 0 3.01690271048763e-12 FALSE 4.06131e-06 ENSE00000883832_015 ENSE00000883832 015 15 40581437 40581606 - 36 87 47 C T 40581523 387 84 CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTTCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289321 40289322 40289322 exon 37 0.425287356321839 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGAAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 116 269 0.999644688646602 0.999858399729661 0.999751544188132 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0709780363072413 0.00652043831763105 0.963435913792395 0.961002306875695 NA 0.0387492373124362 NA FALSE NA 0.999 2.655 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 28/29 1 NA TCC C,T 8.268e-06 15:40289322 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 missense_variant 4.439955 0.98171 0.92375 0.695654 0.885629189059478 0 3.01690271048763e-12 FALSE 1.62442e-05 ENSE00000883832_016 ENSE00000883832 016 15 40581437 40581606 - 36 87 47 C T 40581524 388 83 CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCTAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289322 40289323 40289323 exon 36 0.413793103448276 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTAGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 31 95 1 1 1 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0713333476606393 0.00666203858796999 0.963435913792395 0.961002306875695 NA 0.0389976931243046 NA FALSE NA 0.997 0.589 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 28/29 rs370620251 1 NA T:0.0003 T:0 CCA C,T 8.268e-06 15:40289323 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 synonymous_variant 1.657573 0.98101 0.83318 0.695654 0.741244584085198 0 3.01690271048763e-12 FALSE 4.06101e-06 ENSE00000883832_018 ENSE00000883832 018 15 40581437 40581606 - 36 87 47 T C 40581534 390 73 CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCCGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289332 40289333 40289333 exon 26 0.298850574712644 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCGGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 40 207 1 0.99150131168888 0.99575065584444 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0713333476606393 -0.00183664972315023 0.963435913792395 0.961002306875695 NA 0.0347483489687445 NA FALSE NA 1 3.541 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 28/29 1 NA CTG T,C 3.307e-05 15:40289333 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 missense_variant 4.390384 0.97731 0.93671 0.695654 0.998283586630418 0 3.01690271048763e-12 FALSE 3.65491e-05 ENSE00000883832_020 ENSE00000883832 020 15 40581437 40581606 - 36 87 47 C A 40581539 392 68 CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGACTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289337 40289338 40289338 exon 21 0.241379310344828 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGTCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 238 346 0.997022856365002 1 0.998511428182501 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0683562040256409 0.00666203858796999 0.963435913792395 0.961002306875695 NA 0.0375091213068054 NA FALSE NA 0.011 0.375 NA NA NA PLCB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40289338 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 missense_variant 2.643596 0.96162 0.4216 0.695654 0.994961503001824 0 3.01690271048763e-12 FALSE 0.000211171 ENSE00000883832_025 ENSE00000883832 025 15 40581437 40581606 - 36 87 47 T A 40581571 397 36 CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGAGGATGGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289369 40289370 40289370 upstr_intron -12 -0.234042553191489 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCTCTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 354 773 0.996080834336436 0.999753457050025 0.99791714569323 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0674141819970749 0.00641549563799515 0.963435913792395 0.961002306875695 NA 0.036914838817535 NA FALSE NA 0 -0.491 . intron_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 27/28 1 NA GTG T,A 8.269e-06 15:40289370 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 non_coding_transcript_exon_variant 0.235278 0.15778 0.0223 0.095506 0.505491051309692 0.105214 3.01690271048763e-12 FALSE 4.06339e-06 ENSE00000883832_026 ENSE00000883832 026 15 40581437 40581606 - 36 87 47 G A 40581576 398 31 CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATAGCAGAGAATCAGGACAACACAGACAGGCAA 40289235 40289405 40289374 40289375 40289375 upstr_intron -17 -0.340425531914894 TTGCCTGTCTGTGTTGTCCTGATTCTCTGCTATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 509 111 0.99969880565323 0.975925780618603 0.987812293135916 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA 0.0710321533138691 -0.0174121807934273 0.963435913792395 0.961002306875695 NA 0.0268099862602209 NA FALSE NA 0 0.413 . intron_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 27/28 1 NA TGG G,A 1.654e-05 15:40289375 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 non_coding_transcript_exon_variant 0.533446 0.81091 0.11824 0.095506 0.51300673747001 0.934837 3.01690271048763e-12 FALSE 4.46984e-05 ENSE00000883832_029 ENSE00000883832 029 15 40581437 40581606 - 36 87 47 G C 40581589 401 18 CAGTTCTGCTGGGGGTCCCAGTAGTGAACCTGTTACCTGCTTTTCCATCTCCCGTATCTGTTCCAGGCAAGCCGCCTGCTTCTCCTCCAGCTTCTCCTGGTGCCTCTCCAAGTTCTCCGTCATCTGGGTGGGAGTGGATGGCAGAGAATCAGCACAACACAGACAGGCAA 40289235 40289405 40289387 40289388 40289388 upstr_intron -30 -0.617021276595745 TTGCCTGTCTGTGTTGTGCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG TTGCCTGTCTGTGTTGTCCTGATTCTCTGCCATCCACTCCCACCCAGATGACGGAGAACTTGGAGAGGCACCAGGAGAAGCTGGAGGAGAAGCAGGCGGCTTGCCTGGAACAGATACGGGAGATGGAAAAGCAGGTAACAGGTTCACTACTGGGACCCCCAGCAGAACTG mutant NA NA NA NA NA 107 365 0.881647852418522 0.993826624383459 0.937737238400991 0.960274619199778 0.966597208385013 0.928666652339361 0.99333796141203 NA NA -0.0470187999208392 0.000488662971429465 0.963435913792395 0.961002306875695 NA -0.0232650684747049 NA FALSE NA 0.025 0.463 . intron_variant&NMD_transcript_variant MODIFIER PLCB2 HGNC 9055 ENST00000558588 27/28 1 NA GGA G,C 8.268e-06 15:40289388 PLCB2 HGNC Symbol protein_coding 29759 ENSG00000137841 ENSE00003639564 non_coding_transcript_exon_variant 0.313655 0.78646 0.16298 0.095506 0.714120320730083 0.15786 3.01690271048763e-12 FALSE 4.06881e-06 ENSE00000883946_000 ENSE00000883946 000 15 41246354 41246523 + 72 36 62 NA NA NA NA NA ATAAAGGTTTCCTTGCTGATGGCAGAGCTGATTTCTAACTTGTCTATTTCAAAATATTTCTTCCCTCCCTAGCCTGGCCGTGTGGTGACGCTCCTTGAAGATCATGAGGTAAGTGCCCGAATCATGAAGGGGAACCCTGGCCCAGTGTGAAGGGGGACCAGCAGAGAGAG 40954155 40954325 NA NA NA NA NA NA ATAAAGGTTTCCTTGCTGATGGCAGAGCTGATTTCTAACTTGTCTATTTCAAAATATTTCTTCCCTCCCTAGCCTGGCCGTGTGGTGACGCTCCTTGAAGATCATGAGGTAAGTGCCCGAATCATGAAGGGGAACCCTGGCCCAGTGTGAAGGGGGACCAGCAGAGAGAG ATAAAGGTTTCCTTGCTGATGGCAGAGCTGATTTCTAACTTGTCTATTTCAAAATATTTCTTCCCTCCCTAGCCTGGCCGTGTGGTGACGCTCCTTGAAGATCATGAGGTAAGTGCCCGAATCATGAAGGGGAACCCTGGCCCAGTGTGAAGGGGGACCAGCAGAGAGAG natural NA NA NA NA NA 1161 1149 0.874903920000165 0.963997527673747 0.919450723836956 NA NA 0.874903920000165 0.963997527673747 NA NA 0 0 NA 0.919450723836956 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00000883946 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00000885350_000 ENSE00000885350 000 15 67995621 67995790 + 54 72 44 NA NA NA NA NA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 NA NA NA NA NA NA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA natural 33 42 0.999193815245069 0.9932627882351 0.996228301740084 1532 2082 0.99462732019153 0.887208053917087 0.940917687054308 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 0 0 0 0 0.996228301740084 0.940917687054308 0 0 0 FALSE FALSE NA NA NA NA NA MAP2K5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAP2K5 NA NA NA ENSG00000137764 ENSE00003465875 NA NA NA NA NA NA NA 0.475918460790794 FALSE NA ENSE00000885350_001 ENSE00000885350 001 15 67995621 67995790 + 54 72 44 A G 67995637 1557 17 TGTTTTCCTGAGTAGCGTCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703298 67703299 67703299 upstr_intron -38 -0.685185185185185 TGTTTTCCTGAGTAGCGTCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 454 338 0.992029572446269 0.99318785613291 0.992608714289589 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA -0.00259774774526067 0.105979802215823 0.996228301740084 0.940917687054308 NA 0.051691027235281 NA FALSE NA 0.002 -0.113 . intron_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 11/17 rs371096821 1 NA G:0.0005 G:0 CAT A,G 1.647e-05 15:67703299 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 intron_variant -0.005722 0.16727 0.02994 0.162113 0.358437338680278 0.0455939 0.475918460790794 FALSE 1.64142e-05 ENSE00000885350_002 ENSE00000885350 002 15 67995621 67995790 + 54 72 44 T G 67995638 1558 18 TGTTTTCCTGAGTAGCAGCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703299 67703300 67703300 upstr_intron -37 -0.666666666666667 TGTTTTCCTGAGTAGCAGCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 2254 632 0.998873276321222 0.999749677284098 0.99931147680266 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA 0.0042459561296927 0.112541623367011 0.996228301740084 0.940917687054308 NA 0.0583937897483519 NA FALSE NA 0 -0.372 . intron_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 11/17 1 NA ATC T,G 8.237e-06 15:67703300 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 intron_variant 0.191621 0.22011 0.0949 0.162113 0.515260110762999 0.0455939 0.475918460790794 FALSE 4.10038e-06 ENSE00000885350_003 ENSE00000885350 003 15 67995621 67995790 + 54 72 44 C T 67995640 1559 20 TGTTTTCCTGAGTAGCATCTGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703301 67703302 67703302 upstr_intron -35 -0.62962962962963 TGTTTTCCTGAGTAGCATCTGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 426 183 0.988226720166152 0.980496639012023 0.984361679589088 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA -0.00640060002537712 0.0932885850949358 0.996228301740084 0.940917687054308 NA 0.0434439925347793 NA FALSE NA 0 0.166 . intron_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 11/17 rs373538265 1 NA T:0.0002 T:0 CCG C,T 1.647e-05 15:67703302 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 intron_variant -0.025683 0.23647 0.02437 0.162113 0.366634866842842 0.0455939 0.475918460790794 FALSE 1.64045e-05 ENSE00000885350_004 ENSE00000885350 004 15 67995621 67995790 + 54 72 44 G A 67995641 1560 21 TGTTTTCCTGAGTAGCATCCATCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703302 67703303 67703303 upstr_intron -34 -0.611111111111111 TGTTTTCCTGAGTAGCATCCATCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 120 995 0.134848060331084 0.253193819928283 0.194020940129684 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA -0.859779259860445 -0.634014233988804 0.996228301740084 0.940917687054308 NA -0.746896746924625 NA TRUE NA 0 -0.062 . intron_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 11/17 1 NA CGT G,A 1.647e-05 15:67703303 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 intron_variant -0.260138 0.15352 0.00243 0.162113 0.312135542449434 0.0455939 0.475918460790794 FALSE NA ENSE00000885350_007 ENSE00000885350 007 15 67995621 67995790 + 54 72 44 C T 67995672 1563 52 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGTAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703333 67703334 67703334 upstr_intron -3 -0.037037037037037 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGTAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 77 1469 0.779657314448021 0.817431701369673 0.798544507908847 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA -0.214970005743509 -0.0697763525474139 0.996228301740084 0.940917687054308 NA -0.142373179145461 NA FALSE NA 0.982 2.641 rs180869756 splice_region_variant&intron_variant&non_coding_transcript_variant LOW MAP2K5 HGNC 6845 ENST00000558392 11/17 rs180869756 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 GCA C,T 1.647e-05 15:67703334 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 splice_region_variant 1.177626 0.97364 0.67693 0.162113 0.75296646219667 0.355332 0.475918460790794 FALSE 8.1471e-06 ENSE00000885350_008 ENSE00000885350 008 15 67995621 67995790 + 54 72 44 G A 67995695 1564 75 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAACAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703356 67703357 67703357 exon 21 0.291666666666667 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAACAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 21 168 1 1 1 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA 0.00537267980847045 0.112791946082913 0.996228301740084 0.940917687054308 NA 0.0590823129456916 NA FALSE NA 1 0.511 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 12/18 1 NA AGC G,A 0.0001071 15:67703357 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 synonymous_variant 1.051201 0.97115 0.79998 0.706298 0.622106727227255 0 0.475918460790794 FALSE 0.00013019 ENSE00000885350_009 ENSE00000885350 009 15 67995621 67995790 + 54 72 44 T G 67995713 1565 93 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCGGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703374 67703375 67703375 exon -34 0.541666666666667 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCGGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 746 702 1 1 1 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA 0.00537267980847045 0.112791946082913 0.996228301740084 0.940917687054308 NA 0.0590823129456916 NA FALSE NA 0.103 -0.39 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 12/18 1 NA CTG T,G 8.236e-06 15:67703375 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 synonymous_variant 0.504896 0.92403 0.34381 0.706298 0.67902282965802 0 0.475918460790794 FALSE 4.06805e-06 ENSE00000885350_010 ENSE00000885350 010 15 67995621 67995790 + 54 72 44 G A 67995724 1566 104 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAACTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703385 67703386 67703386 exon -23 0.694444444444444 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAACTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 148 855 0.930105678297891 1 0.965052839148945 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA -0.064521641893639 0.112791946082913 0.996228301740084 0.940917687054308 NA 0.0241351520946369 NA FALSE NA 1 8.891 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 12/18 1 NA AGC G,A 8.236e-06 15:67703386 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 missense_variant 6.414287 0.99387 0.98869 0.706298 0.9975408844207 0 0.475918460790794 FALSE 4.06855e-06 ENSE00000885350_011 ENSE00000885350 011 15 67995621 67995790 + 54 72 44 A G 67995731 1567 111 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGGATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703392 67703393 67703393 exon -16 0.791666666666667 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGGATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 120 25 0.982967851893696 0.992006808204523 0.987487330049109 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA -0.0116594682978333 0.104798754287435 0.996228301740084 0.940917687054308 NA 0.046569642994801 NA FALSE NA 0.261 -0.274 rs55930868 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 12/18 rs55930868 1 NA G:0 G:0.0001 GAA A,G 6.589e-05 15:67703393 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 synonymous_variant 0.456605 0.92608 0.18697 0.706298 0.781761923484864 0 0.475918460790794 FALSE 6.10297e-05 ENSE00000885350_012 ENSE00000885350 012 15 67995621 67995790 + 54 72 44 T G 67995737 1568 117 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCGTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703398 67703399 67703399 exon -10 0.875 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCGTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 132 246 0.994143682585908 1 0.997071841292954 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA -0.000483637605621423 0.112791946082913 0.996228301740084 0.940917687054308 NA 0.0561541542386457 NA FALSE NA 1 2.761 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 12/18 rs374677476 1 NA G:0.0002 G:0 CTT T,G 1.647e-05 15:67703399 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 synonymous_variant -0.021075 0.97817 0.91049 0.706298 0.721017451512491 0 0.475918460790794 FALSE 1.6276e-05 ENSE00000885350_013 ENSE00000885350 013 15 67995621 67995790 + 54 72 44 G A 67995743 1569 123 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATAGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703404 67703405 67703405 exon -4 0.958333333333333 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATAGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 166 83 0.997494179680789 1 0.998747089840394 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA 0.00286685948925924 0.112791946082913 0.996228301740084 0.940917687054308 NA 0.057829402786086 NA FALSE NA 1 8.891 rs147171817 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 12/18 rs147171817 1 NA A:0.0002 A:0 TGG G,A 2.471e-05 15:67703405 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 missense_variant 2.754594 0.99387 0.98869 0.706298 0.958242599160267 0 0.475918460790794 FALSE 1.22099e-05 ENSE00000885350_014 ENSE00000885350 014 15 67995621 67995790 + 54 72 44 C T 67995750 1570 130 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTATGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA 67703282 67703452 67703411 67703412 67703412 downstr_intron 4 1.09302325581395 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTATGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 56 232 1 1 1 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA 0.00537267980847045 0.112791946082913 0.996228301740084 0.940917687054308 NA 0.0590823129456916 NA FALSE NA 0.97 0.02 rs55855141 splice_region_variant&intron_variant&non_coding_transcript_variant LOW MAP2K5 HGNC 6845 ENST00000558392 12/17 rs55855141 1 T:0.0020 T:0 T:0 NA T:0 T:0.007 T:0.0031 T:0.0009 T:0.0062 ACG C,T 0.004242 15:67703412 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 splice_region_variant 1.714685 0.93064 0.29298 0.078448 0.793828849107876 0.445498 0.475918460790794 FALSE 0.00425882 ENSE00000885350_018 ENSE00000885350 018 15 67995621 67995790 + 54 72 44 G A 67995768 1574 148 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACACTTCTGTGCATATCTGTACTAA 67703282 67703452 67703429 67703430 67703430 downstr_intron 22 1.51162790697674 TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACACTTCTGTGCATATCTGTACTAA TGTTTTCCTGAGTAGCATCCGTCCACTCACAGGCTCCCTTCTGATTTCTTGCAGCCTGAAAGGATTTCAGGGGAGCAGTATGGAATTCATTCTGATGTCTGGAGCTTAGGAATCTCTTTTATGGAGGTACGTTGTTTGCACATAGACGCTTCTGTGCATATCTGTACTAA mutant NA NA NA NA NA 226 671 0.991114632859923 0.998048019316935 0.994581326088429 0.999193815245069 0.9932627882351 0.99462732019153 0.887208053917087 NA NA -0.00351268733160692 0.110839965399847 0.996228301740084 0.940917687054308 NA 0.0536636390341202 NA FALSE NA 0 -1.458 . intron_variant&non_coding_transcript_variant MODIFIER MAP2K5 HGNC 6845 ENST00000558392 12/17 rs571964534 1 A:0.0004 A:0 A:0 NA A:0.001 A:0 A:0.001 CGC G,A 4.118e-05 15:67703430 MAP2K5 HGNC Symbol protein_coding 264414 ENSG00000137764 ENSE00003465875 intron_variant -0.51361 0.11211 0.00987 0.053691 0.632752129877098 0.0448725 0.475918460790794 FALSE 3.28087e-05 ENSE00000887366_000 ENSE00000887366 000 17 7507283 7507452 - 44 72 54 NA NA NA NA NA CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT 7603964 7604134 NA NA NA NA NA NA CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT natural 14 16 1 0.993745024995713 0.996872512497857 2435 3267 0.996496799193072 0.839433364067365 0.917965081630218 1 0.993745024995713 0.996496799193072 0.839433364067365 0 0 0 0 0.996872512497857 0.917965081630218 0 0 0 FALSE FALSE NA NA NA NA NA FXR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FXR2 NA NA NA ENSG00000129245 ENSE00000887366 NA NA NA NA NA NA NA 0.999770109253338 TRUE NA ENSE00000887366_001 ENSE00000887366 001 17 7507283 7507452 - 44 72 54 T G 7507328 572 125 CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGCTGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT 7603964 7604134 7604009 7604010 7604010 exon -2 0.986111111111111 CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGCTGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT mutant NA NA NA NA NA 258 69 1 1 1 1 0.993745024995713 0.996496799193072 0.839433364067365 NA NA 0.00350320080692823 0.160566635932635 0.996872512497857 0.917965081630218 NA 0.0820349183697817 NA FALSE NA 1 7.8 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW FXR2 HGNC 4024 ENST00000576693 1/3 1 NA ATC T,G 8.286e-06 17:7604010 FXR2 HGNC Symbol protein_coding 23641 ENSG00000129245 ENSE00000887366 missense_variant 2.992197 0.99339 0.99469 0.706548 0.985362128992786 0 0.999770109253338 TRUE 4.80709e-06 ENSE00000887366_002 ENSE00000887366 002 17 7507283 7507452 - 44 72 54 G A 7507350 573 103 CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCTGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT 7603964 7604134 7604031 7604032 7604032 exon -24 0.680555555555556 CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCTGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT mutant NA NA NA NA NA 762 410 0.974797490542629 1 0.987398745271315 1 0.993745024995713 0.996496799193072 0.839433364067365 NA NA -0.0216993086504427 0.160566635932635 0.996872512497857 0.917965081630218 NA 0.0694336636410963 NA FALSE NA 0.979 1.646 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FXR2 HGNC 4024 ENST00000576693 1/3 1 NA CGG G,A 4.156e-05 17:7604032 FXR2 HGNC Symbol protein_coding 23641 ENSG00000129245 ENSE00000887366 missense_variant 6.587585 0.96469 0.90906 0.706548 0.999123745037638 0 0.999770109253338 TRUE 2.91738e-05 ENSE00000887366_004 ENSE00000887366 004 17 7507283 7507452 - 44 72 54 A G 7507401 575 52 CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTCAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT 7603964 7604134 7604082 7604083 7604083 upstr_intron -3 -0.037037037037037 CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTCAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT mutant NA NA NA NA NA 751 228 0.999450726555568 0.908209441462069 0.953830084008819 1 0.993745024995713 0.996496799193072 0.839433364067365 NA NA 0.00295392736249656 0.0687760773947039 0.996872512497857 0.917965081630218 NA 0.0358650023786002 NA FALSE NA 0.031 0.308 . upstream_gene_variant MODIFIER FXR2 HGNC 4024 ENST00000576693 1 NA TAA A,G 8.643e-06 17:7604083 FXR2 HGNC Symbol protein_coding 23641 ENSG00000129245 ENSE00000887366 splice_region_variant 1.013506 0.18693 0.00166 0.099367 0.697708366971096 0.0834574 0.999770109253338 TRUE NA ENSE00000887366_005 ENSE00000887366 005 17 7507283 7507452 - 44 72 54 T C 7507410 576 43 CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTGCTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT 7603964 7604134 7604091 7604092 7604092 upstr_intron -12 -0.203703703703704 CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTGCTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT mutant NA NA NA NA NA 230 141 1 1 1 1 0.993745024995713 0.996496799193072 0.839433364067365 NA NA 0.00350320080692823 0.160566635932635 0.996872512497857 0.917965081630218 NA 0.0820349183697817 NA FALSE NA 0 -0.138 . upstream_gene_variant MODIFIER FXR2 HGNC 4024 ENST00000576693 rs145728391 1 NA GTA T,C 8.837e-06 17:7604092 FXR2 HGNC Symbol protein_coding 23641 ENSG00000129245 ENSE00000887366 intron_variant 1.055896 0.18022 0.05081 0.099367 0.6094634212831 0.0528659 0.999770109253338 TRUE 1.25608e-05 ENSE00000887366_006 ENSE00000887366 006 17 7507283 7507452 - 44 72 54 G T 7507424 577 29 CTTGATGCTTTTGGGTGGTCTTCAATATATCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT 7603964 7604134 7604105 7604106 7604106 upstr_intron -26 -0.462962962962963 CTTGATGCTTTTGGGTGGTCTTCAATATATCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT mutant NA NA NA NA NA 319 399 0.993695136297781 1 0.996847568148891 1 0.993745024995713 0.996496799193072 0.839433364067365 NA NA -0.00280166289529049 0.160566635932635 0.996872512497857 0.917965081630218 NA 0.0788824865186724 NA FALSE NA 0 0.36 . upstream_gene_variant MODIFIER FXR2 HGNC 4024 ENST00000576693 1 NA AGA G,T 9.3e-06 17:7604106 FXR2 HGNC Symbol protein_coding 23641 ENSG00000129245 ENSE00000887366 intron_variant 1.077271 0.57779 0.25511 0.099367 0.819574971889991 0.0783689 0.999770109253338 TRUE NA ENSE00000887366_007 ENSE00000887366 007 17 7507283 7507452 - 44 72 54 T C 7507428 578 25 CTTGATGCTTTTGGGTGGTCTTCAGTATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT 7603964 7604134 7604109 7604110 7604110 upstr_intron -30 -0.537037037037037 CTTGATGCTTTTGGGTGGTCTTCAGTATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT CTTGATGCTTTTGGGTGGTCTTCAATATCTCTTTGATTCTCTACTTTTCTTTAGGTTTATTCTCGAGCCAATGAACAGGAACCTTGTGGCTGGTGGCTGGCCCGGGTGCGGATGATGAAGGGAGATGTGAGTGACTGGGAATGCCTTTGGAGAACTACTGAAACAAATAT mutant 19 65 0.85 0.85 0.85 218 536 0.99557555013569 0.979584257257163 0.987579903696426 1 0.993745024995713 0.996496799193072 0.839433364067365 -0.15 -0.143745024995713 -0.000921249057382112 0.140150893189798 0.996872512497857 0.917965081630218 -0.146872512497857 0.0696148220662079 0.216487334564064 FALSE FALSE 0 -1.365 . upstream_gene_variant MODIFIER FXR2 HGNC 4024 ENST00000576693 1 NA ATT T,C 2.81e-05 17:7604110 FXR2 HGNC Symbol protein_coding 23641 ENSG00000129245 ENSE00000887366 intron_variant 0.4998 0.13479 0.0125 0.099367 0.677960340511256 0.0783689 0.999770109253338 TRUE 1.95943e-05 ENSE00000887775_000 ENSE00000887775 000 8 131797596 131797765 - 33 93 44 NA NA NA NA NA ATGCATTGTGGCTGAGTCCAAAGAGTCCTTTACCTGTTTTTCAGGTGACAGGCCTGACACGGCCATGTAGGTGCTGCCAATGGTCTTAATCTTTTCAATGTCTTGAAATCGGTCTTCACCAAGCAACTGAAAGAGAGCCAGGCAATGGTGTTAGCCCTGGTGTTTATTCT 130785349 130785519 NA NA NA NA NA NA AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT natural 77 87 0.995654258053826 0.994775571277676 0.995214914665751 5004 1127 0.999110727967582 0.924022168720572 0.961566448344077 0.995654258053826 0.994775571277676 0.999110727967582 0.924022168720572 0 0 0 0 0.995214914665751 0.961566448344077 0 0 0 FALSE FALSE NA NA NA NA NA ADCY8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADCY8 NA NA NA ENSG00000155897 ENSE00000887775 NA NA NA NA NA NA NA 0.0029856615213929 FALSE NA ENSE00000887775_004 ENSE00000887775 004 8 131797596 131797765 - 33 93 44 C T 131797653 2026 113 ATGCATTGTGGCTGAGTCCAAAGAGTCCTTTACCTGTTTTTCAGGTGACAGGCCTGATACGGCCATGTAGGTGCTGCCAATGGTCTTAATCTTTTCAATGTCTTGAAATCGGTCTTCACCAAGCAACTGAAAGAGAGCCAGGCAATGGTGTTAGCCCTGGTGTTTATTCT 130785349 130785519 130785406 130785407 130785407 exon -25 0.741935483870968 AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTATCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT mutant NA NA NA NA NA 1106 20 1 0.992008816475837 0.996004408237918 0.995654258053826 0.994775571277676 0.999110727967582 0.924022168720572 NA NA 0.000889272032417954 0.0679866477552645 0.995214914665751 0.961566448344077 NA 0.0344379598938412 NA FALSE NA 0.982 0.291 . synonymous_variant LOW ADCY8 HGNC 239 ENST00000286355 16/18 1 NA ACA C,T 8.236e-06 8:130785407 ADCY8 HGNC Symbol protein_coding 262125 ENSG00000155897 ENSE00000887775 synonymous_variant 1.868083 0.96123 0.69272 0.615465 0.713737567770541 0 0.0029856615213929 FALSE 4.15762e-06 ENSE00000887775_005 ENSE00000887775 005 8 131797596 131797765 - 33 93 44 C T 131797655 2027 111 ATGCATTGTGGCTGAGTCCAAAGAGTCCTTTACCTGTTTTTCAGGTGACAGGCCTGACATGGCCATGTAGGTGCTGCCAATGGTCTTAATCTTTTCAATGTCTTGAAATCGGTCTTCACCAAGCAACTGAAAGAGAGCCAGGCAATGGTGTTAGCCCTGGTGTTTATTCT 130785349 130785519 130785408 130785409 130785409 exon -27 0.720430107526882 AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCATGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT mutant NA NA NA NA NA 124 835 1 0.999267417698938 0.999633708849469 0.995654258053826 0.994775571277676 0.999110727967582 0.924022168720572 NA NA 0.000889272032417954 0.0752452489783657 0.995214914665751 0.961566448344077 NA 0.0380672605053918 NA FALSE NA 1 7.773 . missense_variant MODERATE ADCY8 HGNC 239 ENST00000286355 16/18 rs371947731&COSM1551845 1 deleterious(0.01) benign(0.008) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0 ACG C,T 2.471e-05 8:130785409 ADCY8 HGNC Symbol protein_coding 262125 ENSG00000155897 ENSE00000887775 missense_variant 5.404742 0.99405 0.98332 0.615465 0.999170531273281 0 0.0029856615213929 FALSE 3.32867e-05 ENSE00000887775_006 ENSE00000887775 006 8 131797596 131797765 - 33 93 44 G A 131797656 2028 110 ATGCATTGTGGCTGAGTCCAAAGAGTCCTTTACCTGTTTTTCAGGTGACAGGCCTGACACAGCCATGTAGGTGCTGCCAATGGTCTTAATCTTTTCAATGTCTTGAAATCGGTCTTCACCAAGCAACTGAAAGAGAGCCAGGCAATGGTGTTAGCCCTGGTGTTTATTCT 130785349 130785519 130785409 130785410 130785410 exon -28 0.709677419354839 AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCTGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT mutant NA NA NA NA NA 218 103 0.990665914509056 1 0.995332957254528 0.995654258053826 0.994775571277676 0.999110727967582 0.924022168720572 NA NA -0.00844481345852566 0.0759778312794277 0.995214914665751 0.961566448344077 NA 0.033766508910451 NA FALSE NA 0 -5.119 . synonymous_variant LOW ADCY8 HGNC 239 ENST00000286355 16/18 COSM604152&COSM749380 1 NA CGG G,A 1.647e-05 8:130785410 ADCY8 HGNC Symbol protein_coding 262125 ENSG00000155897 ENSE00000887775 synonymous_variant 1.805881 0.16568 0.01981 0.615465 0.562010501124807 0 0.0029856615213929 FALSE 1.24847e-05 ENSE00000887775_008 ENSE00000887775 008 8 131797596 131797765 - 33 93 44 A G 131797683 2030 83 ATGCATTGTGGCTGAGTCCAAAGAGTCCTTTACCTGTTTTTCAGGTGACAGGCCTGACACGGCCATGTAGGTGCTGCCAATGGTCTTGATCTTTTCAATGTCTTGAAATCGGTCTTCACCAAGCAACTGAAAGAGAGCCAGGCAATGGTGTTAGCCCTGGTGTTTATTCT 130785349 130785519 130785436 130785437 130785437 exon 39 0.419354838709677 AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATCAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT mutant NA NA NA NA NA 308 692 0.993827792772532 0.999771388130598 0.996799590451565 0.995654258053826 0.994775571277676 0.999110727967582 0.924022168720572 NA NA -0.00528293519505041 0.0757492194100252 0.995214914665751 0.961566448344077 NA 0.0352331421074874 NA FALSE NA 0.989 0.739 . synonymous_variant LOW ADCY8 HGNC 239 ENST00000286355 16/18 rs376563375 1 NA G:0 G:0.0001 TAA A,G 8.236e-06 8:130785437 ADCY8 HGNC Symbol protein_coding 262125 ENSG00000155897 ENSE00000887775 synonymous_variant 0.83794 0.95738 0.56923 0.615465 0.765703513285789 0 0.0029856615213929 FALSE 8.2314e-06 ENSE00000887775_009 ENSE00000887775 009 8 131797596 131797765 - 33 93 44 C T 131797705 2031 61 ATGCATTGTGGCTGAGTCCAAAGAGTCCTTTACCTGTTTTTCAGGTGACAGGCCTGACACGGCCATGTAGGTGCTGCCAATGGTCTTAATCTTTTCAATGTCTTGAAATTGGTCTTCACCAAGCAACTGAAAGAGAGCCAGGCAATGGTGTTAGCCCTGGTGTTTATTCT 130785349 130785519 130785458 130785459 130785459 exon 17 0.182795698924731 AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCAATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT mutant NA NA NA NA NA 282 55 1 0.997113535485147 0.998556767742573 0.995654258053826 0.994775571277676 0.999110727967582 0.924022168720572 NA NA 0.000889272032417954 0.0730913667645743 0.995214914665751 0.961566448344077 NA 0.0369903193984961 NA FALSE NA 0.999 4.868 . missense_variant MODERATE ADCY8 HGNC 239 ENST00000286355 16/18 COSM749379 1 tolerated(0.25) benign(0.005) NA TCG C,T 8.236e-06 8:130785459 ADCY8 HGNC Symbol protein_coding 262125 ENSG00000155897 ENSE00000887775 missense_variant 4.210789 0.9861 0.92828 0.615465 0.99940505210807 0 0.0029856615213929 FALSE NA ENSE00000887775_BRK ENSE00000887775 BRK 8 131797596 131797765 - 33 93 44 A,G; T,T NA NA NA ATGCATTGTGGCTGAGTCCAAAGAGTCCTTTGGCTGTTTTTCAGGTGACAGGCCTGACACGGCCATGTAGGTGCTGCCAATGGTCTTAATCTTTTCAATGTCTTGAAATCGGTCTTCACCAAGCAAAAGAAAGAGAGCCAGGCAATGGTGTTAGCCCTGGTGTTTATTCT 130785349 130785519 NA NA NA NA NA NA AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCTTTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGCCAAAGGACTCTTTGGACTCAGCCACAATGCAT AGAATAAACACCAGGGCTAACACCATTGCCTGGCTCTCTTTCAGTTGCTTGGTGAAGACCGATTTCAAGACATTGAAAAGATTAAGACCATTGGCAGCACCTACATGGCCGTGTCAGGCCTGTCACCTGAAAAACAGGTAAAGGACTCTTTGGACTCAGCCACAATGCAT control 42 63 0 0 0 NA NA NA NA NA 0.995654258053826 0.994775571277676 0.999110727967582 0.924022168720572 -0.995654258053826 -0.994775571277676 NA NA 0.995214914665751 0.961566448344077 -0.995214914665751 NA NA NA TRUE NA NA NA NA NA ADCY8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADCY8 NA NA NA ENSG00000155897 ENSE00000887775 NA NA NA NA NA NA NA 0.0029856615213929 FALSE NA ENSE00000888285_000 ENSE00000888285 000 19 10789731 10789900 + 42 96 32 NA NA NA NA NA GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 NA NA NA NA NA NA GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG natural 96 90 0.997412440685378 0.991281794046251 0.994347117365814 1378 2451 0.989128558429106 0.985635526996066 0.987382042712586 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 0 0 0 0 0.994347117365814 0.987382042712586 0 0 0 FALSE FALSE NA NA NA NA NA ILF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ILF3 NA NA NA ENSG00000129351 ENSE00003581783 NA NA NA NA NA NA NA 0.999996830604967 TRUE NA ENSE00000888285_003 ENSE00000888285 003 19 10789731 10789900 + 42 96 32 G A 10789750 991 20 GGCGGTGCCTCAGACTGAAAAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679073 10679074 10679074 upstr_intron -23 -0.523809523809524 GGCGGTGCCTCAGACTGAAAAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 46 29 0.478367477202578 0.477295213022373 0.477831345112475 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA -0.510761081226528 -0.508340313973694 0.994347117365814 0.987382042712586 NA -0.509550697600111 NA TRUE NA 0.04 1.287 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA AGA G,A 1.647e-05 19:10679074 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 intron_variant 0.922482 0.35079 0.40446 0.256867 0.767494757709781 0.133641 0.999996830604967 TRUE 8.21207e-06 ENSE00000888285_004 ENSE00000888285 004 19 10789731 10789900 + 42 96 32 G A 10789752 992 22 GGCGGTGCCTCAGACTGAAGAACCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679075 10679076 10679076 upstr_intron -21 -0.476190476190476 GGCGGTGCCTCAGACTGAAGAACCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 41 80 1 1 1 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0143644730039336 0.994347117365814 0.987382042712586 NA 0.0126179572874139 NA FALSE NA 0 -0.249 NA NA NA ILF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:10679076 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 intron_variant 0.816351 0.28581 0.053 0.256867 0.751610001122258 0.133641 0.999996830604967 TRUE 3.68774e-05 ENSE00000888285_006 ENSE00000888285 006 19 10789731 10789900 + 42 96 32 T G 10789761 994 31 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTGTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679084 10679085 10679085 upstr_intron -12 -0.261904761904762 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTGTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 721 612 0.961900117986161 0.952335117069421 0.957117617527791 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA -0.0272284404429451 -0.0333004099266454 0.994347117365814 0.987382042712586 NA -0.0302644251847953 NA FALSE NA 0.991 3.425 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA TTT T,G 8.236e-06 19:10679085 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 intron_variant 0.967871 0.95194 0.96068 0.256867 0.693995677845291 0.9526 0.999996830604967 TRUE 4.08787e-06 ENSE00000888285_007 ENSE00000888285 007 19 10789731 10789900 + 42 96 32 C T 10789766 995 36 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTTCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679089 10679090 10679090 upstr_intron -7 -0.142857142857143 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTTCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 34 108 1 1 1 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0143644730039336 0.994347117365814 0.987382042712586 NA 0.0126179572874139 NA FALSE NA 0.191 0.268 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 rs374616074 1 NA T:0 T:0.0001 TCC C,T 2.471e-05 19:10679090 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 splice_region_variant 0.668042 0.91979 0.42848 0.256867 0.682818986112037 0.319503 0.999996830604967 TRUE 4.89744e-05 ENSE00000888285_009 ENSE00000888285 009 19 10789731 10789900 + 42 96 32 C T 10789784 997 54 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAATGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679107 10679108 10679108 exon 12 0.125 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAATGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 393 621 0.97512977272618 0.997957113865399 0.98654344329579 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA -0.013998785702926 0.0123215868693329 0.994347117365814 0.987382042712586 NA -0.000838599416796537 NA FALSE NA 0.001 -0.509 rs150571055 upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 rs150571055 1 NA T:0.0002 T:0 ACG C,T 4.118e-05 19:10679108 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 1.0073 0.87663 0.18166 0.706548 0.345170206888845 0 0.999996830604967 TRUE 4.48346e-05 ENSE00000888285_010 ENSE00000888285 010 19 10789731 10789900 + 42 96 32 C T 10789802 998 72 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTTATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679125 10679126 10679126 exon 30 0.3125 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTTATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 79 88 1 1 1 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0143644730039336 0.994347117365814 0.987382042712586 NA 0.0126179572874139 NA FALSE NA 1 1.523 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA TCA C,T 8.236e-06 19:10679126 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 1.968057 0.95377 0.89446 0.706548 0.700910380731627 0 0.999996830604967 TRUE 1.22384e-05 ENSE00000888285_011 ENSE00000888285 011 19 10789731 10789900 + 42 96 32 C A 10789811 999 81 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATACGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679134 10679135 10679135 exon 39 0.40625 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATACGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 72 246 0.950841218141479 0.967160277574261 0.95900074785787 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA -0.038287340287627 -0.0184752494218057 0.994347117365814 0.987382042712586 NA -0.0283812948547164 NA FALSE NA 0.987 0.342 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA TCC C,A 8.236e-06 19:10679135 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 2.518138 0.93696 0.88556 0.706548 0.747049037301223 0 0.999996830604967 TRUE 4.08067e-06 ENSE00000888285_013 ENSE00000888285 013 19 10789731 10789900 + 42 96 32 C T 10789826 1001 96 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGATCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679149 10679150 10679150 exon -43 0.5625 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGATCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 761 110 0.806028839242529 1 0.903014419621264 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA -0.183099719186577 0.0143644730039336 0.994347117365814 0.987382042712586 NA -0.0843676230913217 NA FALSE NA 1 1.512 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA ACC C,T 2.471e-05 19:10679150 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 2.001131 0.94828 0.87666 0.706548 0.569269841099921 0 0.999996830604967 TRUE 8.17875e-06 ENSE00000888285_014 ENSE00000888285 014 19 10789731 10789900 + 42 96 32 G A 10789829 1002 99 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTATGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679152 10679153 10679153 exon -40 0.59375 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTATGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 118 142 1 0.995309797723712 0.997654898861856 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.00967427072764593 0.994347117365814 0.987382042712586 NA 0.01027285614927 NA FALSE NA 0.998 0.742 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA TGT G,A 8.236e-06 19:10679153 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 1.400109 0.89919 0.84054 0.706548 0.75959001845136 0 0.999996830604967 TRUE 4.10907e-06 ENSE00000888285_015 ENSE00000888285 015 19 10789731 10789900 + 42 96 32 C T 10789836 1003 106 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTTGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679159 10679160 10679160 exon -33 0.666666666666667 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTTGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 255 25 0.991640725852066 1 0.995820362926033 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.00251216742295968 0.0143644730039336 0.994347117365814 0.987382042712586 NA 0.00843832021344665 NA FALSE NA 0.996 3.315 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA TCG C,T 8.236e-06 19:10679160 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 7.384502 0.96203 0.91816 0.706548 0.999345267455964 0 0.999996830604967 TRUE NA ENSE00000888285_019 ENSE00000888285 019 19 10789731 10789900 + 42 96 32 G C 10789851 1007 121 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGCGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679174 10679175 10679175 exon -18 0.822916666666667 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGCGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 362 14 1 1 1 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0143644730039336 0.994347117365814 0.987382042712586 NA 0.0126179572874139 NA FALSE NA 1 6.524 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA GGG G,C 3.295e-05 19:10679175 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 3.802762 0.96324 0.968 0.706548 0.997949894880603 0 0.999996830604967 TRUE 2.91332e-05 ENSE00000888285_021 ENSE00000888285 021 19 10789731 10789900 + 42 96 32 C T 10789854 1009 124 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTTCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679177 10679178 10679178 exon -15 0.854166666666667 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTTCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 43 1317 1 0.99987989619653 0.999939948098265 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0142443692004635 0.994347117365814 0.987382042712586 NA 0.0125579053856788 NA FALSE NA 1 7.765 . upstream_gene_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1 NA TCC C,T 8.236e-06 19:10679178 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 6.956891 0.97981 0.97556 0.706548 0.999265085572022 0 0.999996830604967 TRUE 4.17122e-06 ENSE00000888285_022 ENSE00000888285 022 19 10789731 10789900 + 42 96 32 G A 10789861 1010 131 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCAAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679184 10679185 10679185 exon -8 0.927083333333333 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCAAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 95 26 0.995585866881599 0.993867897211106 0.994726882046353 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.00645730845249359 0.00823237021503942 0.994347117365814 0.987382042712586 NA 0.00734483933376651 NA FALSE NA 1 2.796 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1/4 1 NA CGA G,A 8.236e-06 19:10679185 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 missense_variant 6.239625 0.96056 0.91986 0.706548 0.999496477972997 0 0.999996830604967 TRUE 1.67286e-05 ENSE00000888285_023 ENSE00000888285 023 19 10789731 10789900 + 42 96 32 T C 10789877 1011 147 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCACGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 10679200 10679201 10679201 downstr_intron 9 1.29032258064516 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCACGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 141 994 1 0.996628779204996 0.998314389602498 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0109932522089294 0.994347117365814 0.987382042712586 NA 0.0109323468899118 NA FALSE NA 0 -0.128 . intron_variant&non_coding_transcript_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1/3 1 NA ATG T,C 8.236e-06 19:10679201 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 intron_variant -0.055933 0.1966 0.07787 0.099367 0.562635451021517 0.199286 0.999996830604967 TRUE 4.3216e-06 ENSE00000888285_024 ENSE00000888285 024 19 10789731 10789900 + 42 96 32 G T 10789881 1012 151 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTTCTGTGGCTACTGGGGGTGG 10679054 10679224 10679204 10679205 10679205 downstr_intron 13 1.41935483870968 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTTCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 217 228 1 1 1 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0143644730039336 0.994347117365814 0.987382042712586 NA 0.0126179572874139 NA FALSE NA 0 1.364 . intron_variant&non_coding_transcript_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1/3 1 NA TGC G,T 2.471e-05 19:10679205 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 intron_variant -0.056576 0.25487 0.20048 0.099367 0.455460678615664 0.11944 0.999996830604967 TRUE 2.59159e-05 ENSE00000888285_025 ENSE00000888285 025 19 10789731 10789900 + 42 96 32 G A 10789884 1013 154 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTATGGCTACTGGGGGTGG 10679054 10679224 10679207 10679208 10679208 downstr_intron 16 1.51612903225806 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTATGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 349 1515 1 0.996178318457954 0.998089159228977 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0105427914618875 0.994347117365814 0.987382042712586 NA 0.0107071165163908 NA FALSE NA 0 -4.036 . intron_variant&non_coding_transcript_variant MODIFIER ILF3 HGNC 6038 ENST00000589173 1/3 rs373090750 1 NA A:0 A:0.0001 TGT G,A 8.236e-06 19:10679208 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 intron_variant -0.3384 0.21356 0.03012 0.099367 0.292471916954498 0.11944 0.999996830604967 TRUE 4.34299e-06 ENSE00000888285_027 ENSE00000888285 027 19 10789731 10789900 + 42 96 32 A G 10789890 1015 160 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTGCTGGGGGTGG 10679054 10679224 10679213 10679214 10679214 downstr_intron 22 1.70967741935484 GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTGCTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG mutant NA NA NA NA NA 33 607 1 0.996409891894075 0.998204945947037 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 NA NA 0.0108714415708941 0.0107743648980086 0.994347117365814 0.987382042712586 NA 0.0108229032344514 NA FALSE NA 0 -2.002 NA NA NA ILF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:10679214 ILF3 HGNC Symbol protein_coding 38156 ENSG00000129351 ENSE00003581783 intron_variant -0.103427 0.20241 0.08023 0.075938 0.261114738587786 0.11944 0.999996830604967 TRUE 4.37029e-06 ENSE00000888285_BRK ENSE00000888285 BRK 19 10789731 10789900 + 42 96 32 A,G; T,T NA NA NA GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTTTGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGCCAAGGCATGTTGCTGTGGCTACTGGGGGTGG 10679054 10679224 NA NA NA NA NA NA GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTTTGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGCCAAGGCATGTTGCTGTGGCTACTGGGGGTGG GGCGGTGCCTCAGACTGAAGAGCCTGTGTTTTGTTCCCCTAGGCCAGAGCCAACGGGCTGAAGTCTTGTGTCATTGTGATCCGGGTCTTGAGGGACCTGTGCACTCGCGTGCCCACCTGGGGTCCCCTCCGAGGCTGGGTAAGGCATGTTGCTGTGGCTACTGGGGGTGG control 406 199 0.0097003973916179 0 0.00485019869580895 494 26 0.273253680052313 0.102667937445728 0.18796080874902 0.997412440685378 0.991281794046251 0.989128558429106 0.985635526996066 -0.98771204329376 -0.991281794046251 -0.715874878376793 -0.882967589550338 0.994347117365814 0.987382042712586 -0.989496918670006 -0.799421233963566 0.19007568470644 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ILF3 NA NA NA ENSG00000129351 ENSE00003581783 NA NA NA NA NA NA NA 0.999996830604967 TRUE NA ENSE00000888983_000 ENSE00000888983 000 14 20858799 20858968 - 41 78 51 NA NA NA NA NA GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 NA NA NA NA NA NA GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT natural 64 59 0.996868667205739 0.995936907380319 0.996402787293029 1021 908 0.977458926143161 0.963374999068631 0.970416962605896 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 0 0 0 0 0.996402787293029 0.970416962605896 0 0 0 FALSE FALSE NA NA NA NA NA TEP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEP1 NA NA NA ENSG00000129566 ENSE00000888983 NA NA NA NA NA NA NA 4.51417224704889e-24 FALSE NA ENSE00000888983_001 ENSE00000888983 001 14 20858799 20858968 - 41 78 51 G A 20858811 20 158 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTTCCTCCCCCACAT 20390639 20390809 20390651 20390652 20390652 downstr_intron 29 1.725 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTTCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 244 323 0.998472080608274 1 0.999236040304137 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0210131544651126 0.0366250009313693 0.996402787293029 0.970416962605896 NA 0.028819077698241 NA FALSE NA 0 -0.935 . intron_variant MODIFIER TEP1 HGNC 11726 ENST00000556935 13/52 1 NA GGA G,A 8.236e-06 14:20390652 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 intron_variant 0.322762 0.21103 0.03142 0.156188 0.558430235193756 0.12177 4.51417224704889e-24 FALSE 8.13392e-06 ENSE00000888983_002 ENSE00000888983 002 14 20858799 20858968 - 41 78 51 C T 20858823 21 146 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTAAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390663 20390664 20390664 downstr_intron 17 1.425 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTAAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant 12 26 1 0.991022206663418 0.995511103331709 318 844 0.995515123988576 0.987426969836063 0.99147104691232 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 0.0031313327942607 -0.00491470071690114 0.0180561978454148 0.0240519707674324 0.996402787293029 0.970416962605896 -0.000891683961320222 0.0210540843064236 0.0219457682677438 FALSE FALSE 0.001 0.059 . intron_variant MODIFIER TEP1 HGNC 11726 ENST00000556935 13/52 1 NA TCA C,T 8.236e-06 14:20390664 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 intron_variant 0.350087 0.17449 0.02568 0.156188 0.507789909315875 0.12177 4.51417224704889e-24 FALSE NA ENSE00000888983_003 ENSE00000888983 003 14 20858799 20858968 - 41 78 51 G A 20858827 22 142 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATTCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390667 20390668 20390668 downstr_intron 13 1.325 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATTCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 438 307 0.998894321720915 1 0.999447160860458 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0214353955777536 0.0366250009313693 0.996402787293029 0.970416962605896 NA 0.0290301982545615 NA FALSE NA 0.006 0.349 . intron_variant MODIFIER TEP1 HGNC 11726 ENST00000556935 13/52 1 NA GGA G,A 8.236e-06 14:20390668 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 intron_variant 0.238703 0.16433 0.02806 0.156188 0.490521376540849 0.12177 4.51417224704889e-24 FALSE 8.12414e-06 ENSE00000888983_004 ENSE00000888983 004 14 20858799 20858968 - 41 78 51 T G 20858849 23 120 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCACAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390689 20390690 20390690 exon -10 0.884615384615385 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCACAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 48 76 0.992018993234694 1 0.996009496617347 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0145600670915321 0.0366250009313693 0.996402787293029 0.970416962605896 NA 0.0255925340114507 NA FALSE NA 0.237 -1.075 rs147608083 missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 rs147608083 1 deleterious(0) probably_damaging(0.922) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TTT T,G 1.647e-05 14:20390690 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant 4.179101 0.19924 0.04909 0.615465 0.996721770914507 0 4.51417224704889e-24 FALSE 8.12156e-06 ENSE00000888983_006 ENSE00000888983 006 14 20858799 20858968 - 41 78 51 C T 20858867 25 102 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTACTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390707 20390708 20390708 exon -28 0.653846153846154 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTACTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 284 109 1 1 1 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 0.0366250009313693 0.996402787293029 0.970416962605896 NA 0.029583037394104 NA FALSE NA 1 1.166 . synonymous_variant LOW TEP1 HGNC 11726 ENST00000556935 13/53 1 NA GCA C,T 2.471e-05 14:20390708 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 synonymous_variant 1.397948 0.96245 0.79863 0.615465 0.797100892619148 0 4.51417224704889e-24 FALSE 2.43643e-05 ENSE00000888983_007 ENSE00000888983 007 14 20858799 20858968 - 41 78 51 G A 20858870 26 99 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATATCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390710 20390711 20390711 exon -31 0.615384615384615 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATATCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 295 1863 1 0.988982278831421 0.99449113941571 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 0.0256072797627901 0.996402787293029 0.970416962605896 NA 0.0240741768098143 NA FALSE NA 1 0.785 NA NA NA TEP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:20390711 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 synonymous_variant 0.477455 0.95554 0.73359 0.615465 0.467498797925674 0 4.51417224704889e-24 FALSE 8.93365e-05 ENSE00000888983_009 ENSE00000888983 009 14 20858799 20858968 - 41 78 51 T C 20858874 28 95 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAGATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390714 20390715 20390715 exon -35 0.564102564102564 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAGATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 356 179 0.996972986596723 0.997626482426389 0.997299734511556 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0195140604535614 0.0342514833577587 0.996402787293029 0.970416962605896 NA 0.0268827719056601 NA FALSE NA 0.999 1.895 . missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 1 tolerated(0.09) possibly_damaging(0.471) NA TTT T,C 8.236e-06 14:20390715 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant 2.28557 0.94884 0.78755 0.615465 0.998601505513723 0 4.51417224704889e-24 FALSE 4.06065e-06 ENSE00000888983_010 ENSE00000888983 010 14 20858799 20858968 - 41 78 51 C A 20858876 29 93 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGTAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390716 20390717 20390717 exon -37 0.538461538461538 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGTAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 96 188 0.975875856065731 1 0.987937928032866 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA -0.0015830700774303 0.0366250009313693 0.996402787293029 0.970416962605896 NA 0.0175209654269695 NA FALSE NA 0.077 -0.298 . synonymous_variant LOW TEP1 HGNC 11726 ENST00000556935 13/53 1 NA TCC C,A 8.236e-06 14:20390717 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 synonymous_variant 1.726213 0.69652 0.07899 0.615465 0.715376726886749 0 4.51417224704889e-24 FALSE 4.06075e-06 ENSE00000888983_011 ENSE00000888983 011 14 20858799 20858968 - 41 78 51 C G 20858877 30 92 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGCGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390717 20390718 20390718 exon -38 0.525641025641026 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGCGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 137 552 0.983599967311884 0.997265058846587 0.990432513079236 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.00614104116872294 0.0338900597779562 0.996402787293029 0.970416962605896 NA 0.0200155504733396 NA FALSE NA 0.055 0.065 . missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 1 tolerated(0.27) benign(0.034) NA CCC C,G 8.236e-06 14:20390718 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant -0.152493 0.42685 0.0869 0.615465 0.490929596382586 0 4.51417224704889e-24 FALSE 4.06075e-06 ENSE00000888983_012 ENSE00000888983 012 14 20858799 20858968 - 41 78 51 C T 20858878 31 91 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTAGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390718 20390719 20390719 exon -39 0.512820512820513 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTAGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 705 1151 0.997104175997667 1 0.998552087998833 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0196452498545054 0.0366250009313693 0.996402787293029 0.970416962605896 NA 0.0281351253929374 NA FALSE NA 0.05 1.065 . missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 1 tolerated(0.09) possibly_damaging(0.613) NA CCA C,T 1.647e-05 14:20390719 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant 2.994695 0.40878 0.10088 0.706298 0.843923360969069 0 4.51417224704889e-24 FALSE 8.1215e-06 ENSE00000888983_013 ENSE00000888983 013 14 20858799 20858968 - 41 78 51 T G 20858897 32 72 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGCTGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390737 20390738 20390738 exon 21 0.269230769230769 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGCTGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 296 459 0.999860885593962 0.997148751294428 0.998504818444195 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0224019594508007 0.0337737522257974 0.996402787293029 0.970416962605896 NA 0.028087855838299 NA FALSE NA 0 -1.604 . synonymous_variant LOW TEP1 HGNC 11726 ENST00000556935 13/53 rs577930460 1 G:0.0004 G:0 G:0.0029 NA G:0 G:0 G:0 ATC T,G 8.236e-06 14:20390738 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 synonymous_variant -0.183641 0.14281 0.0254 0.706298 0.495192800739929 0 4.51417224704889e-24 FALSE 4.06088e-06 ENSE00000888983_014 ENSE00000888983 014 14 20858799 20858968 - 41 78 51 C G 20858898 33 71 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGCATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390738 20390739 20390739 exon 20 0.256410256410256 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGCATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 158 294 1 0.99381437842464 0.99690718921232 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 0.0304393793560095 0.996402787293029 0.970416962605896 NA 0.026490226606424 NA FALSE NA 0.059 0.731 . missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 1 tolerated(0.27) benign(0.033) NA TCC C,G 8.236e-06 14:20390739 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant -0.917478 0.32698 0.05395 0.706298 0.341980711551874 0 4.51417224704889e-24 FALSE 4.06085e-06 ENSE00000888983_015 ENSE00000888983 015 14 20858799 20858968 - 41 78 51 C A 20858902 34 67 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATTATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390742 20390743 20390743 exon 16 0.205128205128205 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATTATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 88 385 0.977038683044521 0.807818794391367 0.892428738717944 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA -0.000420243098640083 -0.155556204677263 0.996402787293029 0.970416962605896 NA -0.0779882238879517 NA FALSE NA 0 -0.859 . missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 1 tolerated(0.19) benign(0.006) NA TCA C,A 9.06e-05 14:20390743 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant -1.103904 0.13665 0.01577 0.615465 0.181509138694623 0 4.51417224704889e-24 FALSE 0.000117767 ENSE00000888983_016 ENSE00000888983 016 14 20858799 20858968 - 41 78 51 T G 20858907 35 62 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGCAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390747 20390748 20390748 exon 11 0.141025641025641 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGCAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 241 308 0.994873489067143 0.976164769304951 0.985519129186047 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0174145629239817 0.0127897702363206 0.996402787293029 0.970416962605896 NA 0.0151021665801511 NA FALSE NA 0 -0.289 . missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 1 tolerated(0.07) benign(0.311) NA TTC T,G 3.295e-05 14:20390748 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant -1.06796 0.14447 0.04562 0.706548 0.779955726864028 0 4.51417224704889e-24 FALSE 4.46693e-05 ENSE00000888983_017 ENSE00000888983 017 14 20858799 20858968 - 41 78 51 C T 20858908 36 61 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATAAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390748 20390749 20390749 exon 10 0.128205128205128 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATAAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 65 449 1 0.990532465234674 0.995266232617337 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 0.0271574661660431 0.996402787293029 0.970416962605896 NA 0.0248492700114408 NA FALSE NA 0.001 1.1 . missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 rs374285934 1 tolerated(0.16) benign(0.034) NA T:0 T:0.0001 TCA C,T 8.236e-06 14:20390749 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant -0.407909 0.17808 0.06234 0.706298 0.748192809733249 0 4.51417224704889e-24 FALSE 8.12189e-06 ENSE00000888983_018 ENSE00000888983 018 14 20858799 20858968 - 41 78 51 A C 20858912 37 57 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTGGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390752 20390753 20390753 exon 6 0.0769230769230769 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTGGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 837 1668 1 0.987367485684183 0.993683742842091 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 0.0239924866155523 0.996402787293029 0.970416962605896 NA 0.0232667802361954 NA FALSE NA 0 -2.079 . missense_variant MODERATE TEP1 HGNC 11726 ENST00000556935 13/53 1 tolerated(1) benign(0.001) NA CAA A,C 8.237e-06 14:20390753 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 missense_variant -2.744033 0.09591 0.00533 0.706548 0.194029187271615 0 4.51417224704889e-24 FALSE 8.12216e-06 ENSE00000888983_020 ENSE00000888983 020 14 20858799 20858968 - 41 78 51 G A 20858920 39 49 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTTAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390760 20390761 20390761 upstr_intron -3 -0.0392156862745098 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTTAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 1445 23 0.999686300139023 0.993060714384897 0.99637350726196 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0222273739958612 0.0296857153162667 0.996402787293029 0.970416962605896 NA 0.025956544656064 NA FALSE NA 0.981 0.2 . splice_region_variant&intron_variant LOW TEP1 HGNC 11726 ENST00000556935 12/52 rs377746806 1 NA A:0.0002 A:0 TGA G,A 8.236e-06 14:20390761 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 splice_region_variant 0.467234 0.94297 0.62468 0.099367 0.439217760987195 0.161318 4.51417224704889e-24 FALSE 4.06144e-06 ENSE00000888983_021 ENSE00000888983 021 14 20858799 20858968 - 41 78 51 G A 20858924 40 45 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTTCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390764 20390765 20390765 upstr_intron -7 -0.117647058823529 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTTCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant 24 43 0.998487277378932 1 0.999243638689466 218 555 1 0.987744252092519 0.99387212604626 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 0.00161861017319309 0.0040630926196813 0.0225410738568386 0.0243692530238886 0.996402787293029 0.970416962605896 0.00284085139643719 0.0234551634403636 0.0206143120439264 FALSE FALSE 1 1.808 rs185906801 splice_region_variant&intron_variant LOW TEP1 HGNC 11726 ENST00000556935 12/52 rs185906801 1 A:0.0006 A:0 A:0 NA A:0.001 A:0 A:0.002 GGA G,A 1.647e-05 14:20390765 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 splice_region_variant 0.774862 0.96966 0.85375 0.099367 0.610601695731292 0.161318 4.51417224704889e-24 FALSE 8.12394e-06 ENSE00000888983_022 ENSE00000888983 022 14 20858799 20858968 - 41 78 51 A G 20858926 41 43 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTCTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390766 20390767 20390767 upstr_intron -9 -0.156862745098039 GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTCTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 431 1618 0.99868351011024 0.99980445921661 0.999243984663425 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0212245839670785 0.036429460147979 0.996402787293029 0.970416962605896 NA 0.0288270220575287 NA FALSE NA 0.998 1.659 . intron_variant MODIFIER TEP1 HGNC 11726 ENST00000556935 12/52 1 NA AAA A,G 8.236e-06 14:20390767 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 intron_variant 0.90596 0.96096 0.72649 0.099367 0.713520838559684 0.24246 4.51417224704889e-24 FALSE 4.06151e-06 ENSE00000888983_024 ENSE00000888983 024 14 20858799 20858968 - 41 78 51 T G 20858939 43 30 GTGTTTGTCGCTTACTGTGCAACCACATACCATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390779 20390780 20390780 upstr_intron -22 -0.411764705882353 GTGTTTGTCGCTTACTGTGCAACCACATACCATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 648 65 1 0.95 0.975 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 -0.0133749990686307 0.996402787293029 0.970416962605896 NA 0.00458303739410393 NA FALSE NA 0 0.242 . intron_variant MODIFIER TEP1 HGNC 11726 ENST00000556935 12/52 rs370880167 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 C:0 C:0.0001 GTT T,G 8.236e-06 14:20390780 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 intron_variant 0.332289 0.22853 0.23305 0.099367 0.596790722031821 0.0526731 4.51417224704889e-24 FALSE 1.6253e-05 ENSE00000888983_025 ENSE00000888983 025 14 20858799 20858968 - 41 78 51 T C 20858944 44 25 GTGTTTGTCGCTTACTGTGCAACCGCATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390784 20390785 20390785 upstr_intron -27 -0.509803921568627 GTGTTTGTCGCTTACTGTGCAACCGCATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 118 866 1 1 1 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 0.0366250009313693 0.996402787293029 0.970416962605896 NA 0.029583037394104 NA FALSE NA 0 -0.993 rs4981171 intron_variant MODIFIER TEP1 HGNC 11726 ENST00000556935 12/52 rs4981171 1 C:0.0333 C:0.0098 C:0.0274 NA C:0 C:0.0577 C:0.0787 C:0.0172 C:0.0557 GTG T,C 0.05 14:20390785 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 intron_variant 0.027101 0.10388 0.03015 0.099367 0.561124493515268 0.0526731 4.51417224704889e-24 FALSE 0.0488431 ENSE00000888983_026 ENSE00000888983 026 14 20858799 20858968 - 41 78 51 T C 20858947 45 22 GTGTTTGTCGCTTACTGTGCAGCCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390787 20390788 20390788 upstr_intron -30 -0.568627450980392 GTGTTTGTCGCTTACTGTGCAGCCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 19 488 1 0.998742391796442 0.999371195898221 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 0.0353673927278114 0.996402787293029 0.970416962605896 NA 0.028954233292325 NA FALSE NA 0 -1.066 . intron_variant MODIFIER TEP1 HGNC 11726 ENST00000556935 12/52 1 NA GTT T,C 8.236e-06 14:20390788 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 intron_variant 0.475512 0.13332 0.0204 0.099367 0.750469282283989 0.0526731 4.51417224704889e-24 FALSE 2.43851e-05 ENSE00000888983_027 ENSE00000888983 027 14 20858799 20858968 - 41 78 51 C T 20858952 46 17 GTGTTTGTCGCTTACTATGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 20390792 20390793 20390793 upstr_intron -35 -0.666666666666667 GTGTTTGTCGCTTACTATGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT mutant NA NA NA NA NA 15 726 1 0.865197229862842 0.932598614931421 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA 0.0225410738568386 -0.0981777692057884 0.996402787293029 0.970416962605896 NA -0.0378183476744749 NA FALSE NA 0 -0.01 . intron_variant MODIFIER TEP1 HGNC 11726 ENST00000556935 12/52 rs200863368 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACA C,T 8.236e-06 14:20390793 TEP1 HGNC Symbol protein_coding 47762 ENSG00000129566 ENSE00000888983 intron_variant 1.023711 0.11685 0.01472 0.099367 0.773524129318283 0.0526731 4.51417224704889e-24 FALSE 4.06742e-06 ENSE00000888983_BRK ENSE00000888983 BRK 14 20858799 20858968 - 41 78 51 A,G; T,T NA NA NA GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCTTGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTCCGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT 20390639 20390809 NA NA NA NA NA NA GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCTTGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTCCGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT GTGTTTGTCGCTTACTGTGCAACCACATAACATGAAGTCTCTTTCCTTCAGGAGTTTGATGAAAATGATGGATGGTCCCTGAATACTTTTGGGAAATACCTGCTGTCTCTGGCTGGCCAAAGGGTTCCTGTGAGTATTAATCCCTGAGAAACCCTCTCCCTCCCCCACAT control NA NA NA NA NA 104 126 0 0 0 0.996868667205739 0.995936907380319 0.977458926143161 0.963374999068631 NA NA -0.977458926143161 -0.963374999068631 0.996402787293029 0.970416962605896 NA -0.970416962605896 NA TRUE NA NA NA NA NA NA TEP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEP1 NA NA NA ENSG00000129566 ENSE00000888983 NA NA NA NA NA NA NA 4.51417224704889e-24 FALSE NA ENSE00000889327_000 ENSE00000889327 000 14 24543692 24543861 + 48 84 38 NA NA NA NA NA CTCTCCCTCCCTTCATCCCCATAGCCCCAGGCACCAACCTCAGTTCTCCAGACCAGCTGATCACTTTGGTCCTCGTTGGTCTTATAGATTTCCATGAAAGGGTCAGACTTGCTGAACAGATCCTGAAGATACAGGAGAAAGGGCCCTTGAGGTTGGTGAGAGCTGCAAGG 24074482 24074652 NA NA NA NA NA NA CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG natural 25 14 0.998471840972104 0.992710128821999 0.995590984897052 229 692 0.874652086384108 0.938284028484398 0.906468057434253 0.998471840972104 0.992710128821999 0.874652086384108 0.938284028484398 0 0 0 0 0.995590984897052 0.906468057434253 0 0 0 FALSE FALSE NA NA NA NA NA CPNE6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE6 NA NA NA ENSG00000100884 ENSE00003688459 NA NA NA NA NA NA NA 0.918263625967071 TRUE NA ENSE00000889327_002 ENSE00000889327 002 14 24543692 24543861 + 48 84 38 C T 24543710 266 19 CCTTGCAGCTCTCACCAATCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG 24074482 24074652 24074500 24074501 24074501 upstr_intron -30 -0.604166666666667 CCTTGCAGCTCTCACCAATCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG mutant NA NA NA NA NA 318 20 1 1 1 0.998471840972104 0.992710128821999 0.874652086384108 0.938284028484398 NA NA 0.125347913615892 0.0617159715156022 0.995590984897052 0.906468057434253 NA 0.0935319425657473 NA FALSE NA 0 -0.227 . intron_variant MODIFIER CPNE6 HGNC 2319 ENST00000558859 4/5 1 NA ACC C,T 4.118e-05 14:24074501 CPNE6 HGNC Symbol protein_coding 7263 ENSG00000100884 ENSE00003688459 non_coding_transcript_exon_variant 0.369568 0.21071 0.05276 0.056701 0.530801628065598 0.0584972 0.918263625967071 TRUE 5.28498e-05 ENSE00000889327_005 ENSE00000889327 005 14 24543692 24543861 + 48 84 38 A G 24543777 269 86 CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTGTAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG 24074482 24074652 24074567 24074568 24074568 exon 38 0.452380952380952 CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTGTAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG mutant NA NA NA NA NA 112 43 1 1 1 0.998471840972104 0.992710128821999 0.874652086384108 0.938284028484398 NA NA 0.125347913615892 0.0617159715156022 0.995590984897052 0.906468057434253 NA 0.0935319425657473 NA FALSE NA 1 4.589 . missense_variant MODERATE CPNE6 HGNC 2319 ENST00000558859 5/6 1 deleterious_low_confidence(0) benign(0.199) NA TAT A,G 8.236e-06 14:24074568 CPNE6 HGNC Symbol protein_coding 7263 ENSG00000100884 ENSE00003688459 missense_variant 2.526809 0.9809 0.94593 0.497415 0.994147844361108 0 0.918263625967071 TRUE 4.06091e-06 ENSE00000889327_008 ENSE00000889327 008 14 24543692 24543861 + 48 84 38 G A 24543788 272 97 CTCTCCCTCCCTTCATCCCCATAGCCCCAGGCACCAACCTCAGTTCTCCAGACCAGCTGATCACTTTGGTCCTTGTTGGTCTTATAGATTTCCATGAAAGGGTCAGACTTGCTGAACAGATCCTGAAGATACAGGAGAAAGGGCCCTTGAGGTTGGTGAGAGCTGCAAGG 24074482 24074652 24074578 24074579 24074579 exon -36 0.583333333333333 CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACAAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG mutant NA NA NA NA NA 278 106 0.995560416412933 1 0.997780208206467 0.998471840972104 0.992710128821999 0.874652086384108 0.938284028484398 NA NA 0.120908330028826 0.0617159715156022 0.995590984897052 0.906468057434253 NA 0.0913121507722139 NA FALSE NA 0.662 3 . missense_variant MODERATE CPNE6 HGNC 2319 ENST00000558859 5/6 rs200010406 1 tolerated_low_confidence(0.25) benign(0.01) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 0.0001071 14:24074579 CPNE6 HGNC Symbol protein_coding 7263 ENSG00000100884 ENSE00003688459 missense_variant 3.391741 0.97984 0.80396 0.497415 0.971840917627237 0 0.918263625967071 TRUE 0.000125886 ENSE00000889327_011 ENSE00000889327 011 14 24543692 24543861 + 48 84 38 G C 24543808 275 117 CTCTCCCTCCCTTCATCCCCATAGCCCCAGGCACCAACCTCAGTTCTCCAGACGAGCTGATCACTTTGGTCCTCGTTGGTCTTATAGATTTCCATGAAAGGGTCAGACTTGCTGAACAGATCCTGAAGATACAGGAGAAAGGGCCCTTGAGGTTGGTGAGAGCTGCAAGG 24074482 24074652 24074598 24074599 24074599 exon -16 0.821428571428571 CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTCGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG mutant 57 70 0.85 0.895105386631081 0.872552693315541 NA NA NA NA NA 0.998471840972104 0.992710128821999 0.874652086384108 0.938284028484398 -0.148471840972104 -0.0976047421909179 NA NA 0.995590984897052 0.906468057434253 -0.123038291581511 NA NA NA FALSE 1 0.688 rs2070343 synonymous_variant LOW CPNE6 HGNC 2319 ENST00000558859 5/6 rs2070343&COSM3753912&COSM4148026 1 C:0.2670 C:0.0862 C:0.1671 NA C:0.5714 C:0.175 C:0.363 C:0.0876 C:0.1847 TGG G,C 0.219 14:24074599 CPNE6 HGNC Symbol protein_coding 7263 ENSG00000100884 ENSE00003688459 synonymous_variant 0.428908 0.96412 0.79421 0.403107 0.799491813097136 0 0.918263625967071 TRUE 0.216901 ENSE00000889327_013 ENSE00000889327 013 14 24543692 24543861 + 48 84 38 C T 24543811 277 120 CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTTTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG 24074482 24074652 24074601 24074602 24074602 exon -13 0.857142857142857 CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTTTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG mutant NA NA NA NA NA 29 67 1 1 1 0.998471840972104 0.992710128821999 0.874652086384108 0.938284028484398 NA NA 0.125347913615892 0.0617159715156022 0.995590984897052 0.906468057434253 NA 0.0935319425657473 NA FALSE NA 0.898 -0.057 rs139957456 synonymous_variant LOW CPNE6 HGNC 2319 ENST00000558859 5/6 rs139957456 1 NA T:0.0002 T:0 TCT C,T 1.647e-05 14:24074602 CPNE6 HGNC Symbol protein_coding 7263 ENSG00000100884 ENSE00003688459 synonymous_variant 1.537766 0.95952 0.59698 0.403107 0.772200546280586 0 0.918263625967071 TRUE 1.21824e-05 ENSE00000889327_BRK ENSE00000889327 BRK 14 24543692 24543861 + 48 84 38 A,G; T,T NA NA NA CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCTTGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGCCTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG 24074482 24074652 NA NA NA NA NA NA CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCTTGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGCCTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG CCTTGCAGCTCTCACCAACCTCAAGGGCCCTTTCTCCTGTATCTTCAGGATCTGTTCAGCAAGTCTGACCCTTTCATGGAAATCTATAAGACCAACGAGGACCAAAGTGATCAGCTGGTCTGGAGAACTGAGGTTGGTGCCTGGGGCTATGGGGATGAAGGGAGGGAGAG control 153 37 0 0 0 109 48 0 0 0 0.998471840972104 0.992710128821999 0.874652086384108 0.938284028484398 -0.998471840972104 -0.992710128821999 -0.874652086384108 -0.938284028484398 0.995590984897052 0.906468057434253 -0.995590984897052 -0.906468057434253 0.0891229274627989 TRUE TRUE NA NA NA NA NA CPNE6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE6 NA NA NA ENSG00000100884 ENSE00003688459 NA NA NA NA NA NA NA 0.918263625967071 TRUE NA ENSE00000890757_000 ENSE00000890757 000 8 33408503 33408672 - 59 42 69 NA NA NA NA NA GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 NA NA NA NA NA NA GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG natural 69 45 0.981325490776448 0.99318505699998 0.987255273888214 669 1822 0.993349543370003 0.991109329448326 0.992229436409165 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 0 0 0 0 0.987255273888214 0.992229436409165 0 0 0 FALSE FALSE NA NA NA NA NA RNF122 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF122 NA NA NA ENSG00000133874 ENSE00000890757 NA NA NA NA NA NA NA 0.0763862528356865 FALSE NA ENSE00000890757_003 ENSE00000890757 003 8 33408503 33408672 - 59 42 69 G A 33408531 819 142 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGTCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551012 33551013 33551013 downstr_intron 31 1.53448275862069 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGTCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 94 40 1 1 1 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00665045662999653 0.00889067055167425 0.987255273888214 0.992229436409165 NA 0.00777056359083539 NA FALSE NA 0 -0.399 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 4/5 rs201795009 1 NA GGC G 8.236e-06 8:33551013 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant 0.332173 0.15876 0.04487 0.156188 0.677288972303113 0.0641646 0.0763862528356865 FALSE 8.12691e-06 ENSE00000890757_004 ENSE00000890757 004 8 33408503 33408672 - 59 42 69 C T 33408532 820 141 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGACCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551013 33551014 33551014 downstr_intron 30 1.51724137931034 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGACCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 61 111 1 1 1 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00665045662999653 0.00889067055167425 0.987255273888214 0.992229436409165 NA 0.00777056359083539 NA FALSE NA 0 -1.636 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:33551014 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant 0.264228 0.15 0.02723 0.156188 0.648227427654902 0.0641646 0.0763862528356865 FALSE 4.06431e-06 ENSE00000890757_005 ENSE00000890757 005 8 33408503 33408672 - 59 42 69 C A 33408532 821 141 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGTCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551013 33551014 33551014 downstr_intron 30 1.51724137931034 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGTCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 166 1182 0.963662889987623 0.997348657051459 0.980505773519541 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA -0.0296866533823801 0.00623932760313339 0.987255273888214 0.992229436409165 NA -0.0117236628896233 NA FALSE NA 0 -1.636 NA NA NA RNF122 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF122 NA NA NA ENSG00000133874 ENSE00000890757 intron_variant 0.275915 0.14513 0.01301 0.156188 0.713400413015963 0.0641646 0.0763862528356865 FALSE 4.06431e-06 ENSE00000890757_007 ENSE00000890757 007 8 33408503 33408672 - 59 42 69 C A 33408542 823 131 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTTTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551023 33551024 33551024 downstr_intron 20 1.3448275862069 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTTTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 77 161 1 0.97793238717429 0.988966193587145 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00665045662999653 -0.0131769422740355 0.987255273888214 0.992229436409165 NA -0.00326324282201951 NA FALSE NA 0 -0.527 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 4/5 rs201097247 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 ACA C 8.236e-06 8:33551024 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant -0.095732 0.11763 0.02561 0.156188 0.351134722295624 0.0641646 0.0763862528356865 FALSE 4.0627e-06 ENSE00000890757_009 ENSE00000890757 009 8 33408503 33408672 - 59 42 69 T C 33408546 825 127 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAGAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551027 33551028 33551028 downstr_intron 16 1.27586206896552 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAGAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 12 64 1 0.845181224390181 0.92259061219509 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00665045662999653 -0.145928105058145 0.987255273888214 0.992229436409165 NA -0.0696388242140741 NA FALSE NA 0 -1.121 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 4/5 1 NA TTT T 8.236e-06 8:33551028 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant -0.159172 0.20072 0.02265 0.156188 0.387407472200673 0.0641646 0.0763862528356865 FALSE 4.0622e-06 ENSE00000890757_011 ENSE00000890757 011 8 33408503 33408672 - 59 42 69 C A 33408590 827 83 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGTTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551071 33551072 33551072 exon 14 0.333333333333333 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGTTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 450 907 0.998434859940835 0.999663620736507 0.999049240338671 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00508531657083189 0.00855429128818175 0.987255273888214 0.992229436409165 NA 0.00681980392950682 NA FALSE NA 1 6.355 rs141431566 missense_variant MODERATE RNF122 HGNC 21147 ENST00000256257 4/6 rs141431566 1 deleterious(0) probably_damaging(0.998) NA T:0.0002 T:0.0001 ACC C 8.236e-06 8:33551072 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 missense_variant 7.027894 0.99133 0.98944 0.706548 0.995969497956993 0 0.0763862528356865 FALSE 4.06342e-06 ENSE00000890757_012 ENSE00000890757 012 8 33408503 33408672 - 59 42 69 A C 33408607 828 66 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTGCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551088 33551089 33551089 upstr_intron -4 -0.0434782608695652 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTGCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 545 110 0.998403393289242 0.98231927658747 0.990361334938356 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00505384991923818 -0.00879005286085555 0.987255273888214 0.992229436409165 NA -0.00186810147080868 NA FALSE NA 0 -0.809 . splice_region_variant&intron_variant LOW RNF122 HGNC 21147 ENST00000256257 3/5 1 NA GAA A 1.647e-05 8:33551089 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 splice_region_variant -0.242082 0.19247 0.04954 0.099367 0.584763136389859 0.119748 0.0763862528356865 FALSE 8.12737e-06 ENSE00000890757_013 ENSE00000890757 013 8 33408503 33408672 - 59 42 69 T C 33408624 829 49 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCGTGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551105 33551106 33551106 upstr_intron -21 -0.289855072463768 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCGTGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 247 775 0.974894943345272 0.980943770837272 0.977919357091272 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA -0.0184546000247312 -0.0101655586110534 0.987255273888214 0.992229436409165 NA -0.0143100793178923 NA FALSE NA 0 -0.067 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 3/5 1 NA ATG T 1.647e-05 8:33551106 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant 0.427595 0.2163 0.11704 0.099367 0.799437827732074 0.0484893 0.0763862528356865 FALSE 8.12737e-06 ENSE00000890757_015 ENSE00000890757 015 8 33408503 33408672 - 59 42 69 A C 33408640 831 33 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGGTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551121 33551122 33551122 upstr_intron -37 -0.521739130434783 GTTGATACTACCTGGCTGGCCCCAGTGGTTGGGTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 737 236 0.985574873475193 0.949618592235302 0.967596732855248 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA -0.00777466989481068 -0.0414907372130233 0.987255273888214 0.992229436409165 NA -0.024632703553917 NA FALSE NA 0 0.077 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 3/5 rs200560004 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 AAC A 2.471e-05 8:33551122 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant 0.082779 0.16715 0.02359 0.099367 0.661667112539966 0.0484893 0.0763862528356865 FALSE 1.21908e-05 ENSE00000890757_016 ENSE00000890757 016 8 33408503 33408672 - 59 42 69 C T 33408641 832 32 GTTGATACTACCTGGCTGGCCCCAGTGGTTGATTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551122 33551123 33551123 upstr_intron -38 -0.536231884057971 GTTGATACTACCTGGCTGGCCCCAGTGGTTGATTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 338 14 0.995152585311588 0.8 0.897576292655794 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00180304194158454 -0.191109329448326 0.987255273888214 0.992229436409165 NA -0.0946531437533706 NA FALSE NA 0.046 0.255 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 3/5 rs202008774 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 ACC C 7.413e-05 8:33551123 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant 0.375271 0.21886 0.02422 0.099367 0.626421409185563 0.0484893 0.0763862528356865 FALSE 6.09573e-05 ENSE00000890757_018 ENSE00000890757 018 8 33408503 33408672 - 59 42 69 G A 33408651 834 22 GTTGATACTACCTGGCTGGCCTCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551132 33551133 33551133 upstr_intron -48 -0.681159420289855 GTTGATACTACCTGGCTGGCCTCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 910 29 0.997065481608378 0.988933296638814 0.992999389123596 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00371593823837457 -0.00217603280951217 0.987255273888214 0.992229436409165 NA 0.000769952714431199 NA FALSE NA 0 -0.006 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 3/5 1 NA GGG G 8.236e-06 8:33551133 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant 0.799414 0.17957 0.0376 0.069865 0.752753887801032 0.0484893 0.0763862528356865 FALSE 4.06445e-06 ENSE00000890757_019 ENSE00000890757 019 8 33408503 33408672 - 59 42 69 G T 33408653 835 20 GTTGATACTACCTGGCTGGACCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551134 33551135 33551135 upstr_intron -50 -0.710144927536232 GTTGATACTACCTGGCTGGACCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 147 98 1 0.990537885383584 0.995268942691792 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA 0.00665045662999653 -0.000571444064741522 0.987255273888214 0.992229436409165 NA 0.0030395062826275 NA FALSE NA 0 -0.046 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 3/5 1 NA GGC G 3.295e-05 8:33551135 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant 0.618011 0.24422 0.10534 0.069865 0.8036906991241 0.0484893 0.0763862528356865 FALSE 1.62578e-05 ENSE00000890757_020 ENSE00000890757 020 8 33408503 33408672 - 59 42 69 C A 33408654 836 19 GTTGATACTACCTGGCTGTCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 33551135 33551136 33551136 upstr_intron -51 -0.72463768115942 GTTGATACTACCTGGCTGTCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG mutant NA NA NA NA NA 436 42 0.71983285760163 0.8 0.759916428800815 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 NA NA -0.273516685768374 -0.191109329448326 0.987255273888214 0.992229436409165 NA -0.23231300760835 NA FALSE NA 0.001 0.385 . intron_variant MODIFIER RNF122 HGNC 21147 ENST00000256257 3/5 rs543884792 1 A:0.0000 A:0 A:0 NA A:0 A:0 A:0 GCC C 2.471e-05 8:33551136 RNF122 HGNC Symbol protein_coding 19370 ENSG00000133874 ENSE00000890757 intron_variant 0.869355 0.17518 0.091 0.099367 0.802973040528562 0.0484893 0.0763862528356865 FALSE 1.2194e-05 ENSE00000890757_BRK ENSE00000890757 BRK 8 33408503 33408672 - 59 42 69 A,G; T,T NA NA NA GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCTTGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGCCAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG 33550984 33551154 NA NA NA NA NA NA GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCTTGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGCCAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG GTTGATACTACCTGGCTGGCCCCAGTGGTTGGTTCTTCTTTGGACATCATGCCTCCTCTTTCTTTTCAGGTGGTGCTTAAAGGTGATGCCAAGAAGTTACAATTATATGGGGTAAGTGTGCCAGGAAAGTGTGCAGGAGGGCCCCAGCAGGTGAGGCAGACAGCACCTTG control 230 199 0.0283159730482301 0 0.014157986524115 NA NA NA NA NA 0.981325490776448 0.99318505699998 0.993349543370003 0.991109329448326 -0.953009517728218 -0.99318505699998 NA NA 0.987255273888214 0.992229436409165 -0.973097287364099 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF122 NA NA NA ENSG00000133874 ENSE00000890757 NA NA NA NA NA NA NA 0.0763862528356865 FALSE NA ENSE00000890958_000 ENSE00000890958 000 11 3060394 3060563 - 30 99 41 NA NA NA NA NA GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 NA NA NA NA NA NA GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC natural 43 119 0.97165014578902 0.981852963361089 0.976751554575054 1549 3094 0.983000481961627 0.970620928601958 0.976810705281792 0.97165014578902 0.981852963361089 0.983000481961627 0.970620928601958 0 0 0 0 0.976751554575054 0.976810705281792 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003526477 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00000890958_004 ENSE00000890958 004 11 3060394 3060563 - 30 99 41 C A 3060432 162 132 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGAGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039201 3039202 3039202 exon -9 0.919191919191919 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCTCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 94 46 0.99599189558052 0.940672940002314 0.968332417791417 0.97165014578902 0.981852963361089 0.983000481961627 0.970620928601958 NA NA 0.0129914136188929 -0.0299479885996438 0.976751554575054 0.976810705281792 NA -0.00847828749037544 NA FALSE NA 1 7.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003526477 missense_variant 4.789674 0.99233 0.98934 0.736574 0.994965234240946 0 9.99009541070118e-18 FALSE 4.08063e-06 ENSE00000890958_008 ENSE00000890958 008 11 3060394 3060563 - 30 99 41 G A 3060461 166 103 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCACTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039230 3039231 3039231 exon -38 0.626262626262626 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGTGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 93 407 1 0.995514323132983 0.997757161566491 0.97165014578902 0.981852963361089 0.983000481961627 0.970620928601958 NA NA 0.0169995180383733 0.0248933945310246 0.976751554575054 0.976810705281792 NA 0.0209464562846989 NA FALSE NA 0.985 6.055 NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS NA NA NA ENSG00000110619 ENSE00003526477 missense_variant 1.754577 0.93903 0.97126 0.736574 0.774395748431157 0 2.96288607598974e-06 FALSE 0.000268356 ENSE00000890958_BRK ENSE00000890958 BRK 11 3060394 3060563 - 30 99 41 A,G; T,T NA NA NA GGTTTCTAGAGCAGACAGCAAGAGGCCCGGCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATAAGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 NA NA NA NA NA NA GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCTTATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGCCGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC control NA NA NA NA NA 3275 566 0.0132641623158493 0.00235016638625389 0.00780716435105158 0.97165014578902 0.981852963361089 0.983000481961627 0.970620928601958 NA NA -0.969736319645777 -0.968270762215704 0.976751554575054 0.976810705281792 NA -0.969003540930741 NA TRUE NA NA NA NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS NA NA NA ENSG00000110619 ENSE00003526477 NA NA NA NA NA NA NA 2.96288607598974e-06 FALSE NA ENSE00000890969_000 ENSE00000890969 000 11 3036966 3037135 - 45 69 56 NA NA NA NA NA CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 NA NA NA NA NA NA CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC natural 30 61 0.891695437372004 0.973965901713215 0.93283066954261 1867 1220 0.997141420893862 0.988966346106563 0.993053883500213 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 0 0 0 0 0.93283066954261 0.993053883500213 0 0 0 FALSE FALSE NA NA NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS NA NA NA ENSG00000110619 ENSE00003612036 NA NA NA NA NA NA NA 2.96288607598974e-06 FALSE NA ENSE00000890969_002 ENSE00000890969 002 11 3036966 3037135 - 45 69 56 G A 3036979 142 157 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCATCTGCTCCCTCCCC 3015735 3015905 3015748 3015749 3015749 downstr_intron 32 1.72727272727273 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCATCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 96 1403 1 0.999592080317409 0.999796040158704 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA 0.00285857910613763 0.0106257342108452 0.93283066954261 0.993053883500213 NA 0.00674215665849143 NA FALSE NA 0 -0.454 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 16/21 1 NA GGT G,A 4.118e-05 11:3015749 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 intron_variant 0.686881 0.10682 0.00773 0.256867 0.794341122018497 0.10194 2.96288607598974e-06 FALSE 3.25359e-05 ENSE00000890969_003 ENSE00000890969 003 11 3036966 3037135 - 45 69 56 T C 3036980 143 156 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCGCCTGCTCCCTCCCC 3015735 3015905 3015749 3015750 3015750 downstr_intron 31 1.70454545454545 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCGCCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 214 204 1 1 1 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA 0.00285857910613763 0.0110336538934366 0.93283066954261 0.993053883500213 NA 0.0069461164997871 NA FALSE NA 0 -0.057 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 16/21 1 NA GTG T,C 8.236e-06 11:3015750 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 intron_variant 0.60345 0.09946 0.00159 0.256867 0.744741156158579 0.0629352 2.96288607598974e-06 FALSE 4.06795e-06 ENSE00000890969_005 ENSE00000890969 005 11 3036966 3037135 - 45 69 56 G A 3037027 145 109 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCTTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015796 3015797 3015797 exon -17 0.768115942028985 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCTTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 77 109 0.994529722927832 1 0.997264861463916 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA -0.00261169796603034 0.0110336538934366 0.93283066954261 0.993053883500213 NA 0.00421097796370312 NA FALSE NA 0.377 0.795 rs114985608 missense_variant MODERATE CARS HGNC 1493 ENST00000278224 16/22 rs114985608 1 tolerated(0.2) benign(0.039) A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0036 A:0 AGG G,A 0.0003047 11:3015797 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 missense_variant 0.922233 0.24268 0.16683 0.706548 0.411909001446638 0 2.96288607598974e-06 FALSE 0.000243683 ENSE00000890969_007 ENSE00000890969 007 11 3036966 3037135 - 45 69 56 G A 3037039 147 97 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCTGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015808 3015809 3015809 exon -29 0.594202898550725 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCTGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 23 206 1 0.996988267760256 0.998494133880128 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA 0.00285857910613763 0.00802192165369264 0.93283066954261 0.993053883500213 NA 0.00544025037991513 NA FALSE NA 1 6.397 . missense_variant MODERATE CARS HGNC 1493 ENST00000278224 16/22 rs373891738 1 deleterious(0.02) probably_damaging(0.938) NA A:0 A:0.0001 CGG G,A 2.471e-05 11:3015809 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 missense_variant 6.019471 0.98973 0.98423 0.706548 0.998033519930116 0 2.96288607598974e-06 FALSE 2.84299e-05 ENSE00000890969_009 ENSE00000890969 009 11 3036966 3037135 - 45 69 56 T C 3037062 149 74 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAGGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015831 3015832 3015832 exon 18 0.260869565217391 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAGGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant 10 35 0.85 0.85 0.85 62 115 0.98441900631825 1 0.992209503159125 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 -0.0416954373720041 -0.123965901713215 -0.012722414575612 0.0110336538934366 0.93283066954261 0.993053883500213 -0.0828306695426095 -0.000844380341087692 0.0819862892015218 FALSE FALSE 1 0.589 . synonymous_variant LOW CARS HGNC 1493 ENST00000278224 16/22 1 NA CTT T,C 8.236e-06 11:3015832 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 synonymous_variant -0.143153 0.96577 0.78054 0.706548 0.459436867787059 0 2.96288607598974e-06 FALSE 4.06154e-06 ENSE00000890969_010 ENSE00000890969 010 11 3036966 3037135 - 45 69 56 C T 3037067 150 69 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCATAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015836 3015837 3015837 exon 13 0.188405797101449 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCATAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 377 126 0.998682663141305 0.998437233990516 0.99855994856591 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA 0.00154124224744256 0.00947088788395223 0.93283066954261 0.993053883500213 NA 0.0055060650656974 NA FALSE NA 1 2.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3015837 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 missense_variant 0.66864 0.92634 0.02408 0.706548 0.506627948859355 0 2.96288607598974e-06 FALSE 6.90473e-05 ENSE00000890969_011 ENSE00000890969 011 11 3036966 3037135 - 45 69 56 C A 3037067 151 69 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCTTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015836 3015837 3015837 exon 13 0.188405797101449 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCTTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 510 218 0.897209243227867 0.948053165514592 0.92263120437123 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA -0.0999321776659949 -0.0409131805919715 0.93283066954261 0.993053883500213 NA -0.0704226791289832 NA FALSE NA 1 2.001 NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS NA NA NA ENSG00000110619 ENSE00003612036 missense_variant 2.099355 0.96787 0.78468 0.706548 0.874773175592301 0 2.96288607598974e-06 FALSE 1.62464e-05 ENSE00000890969_012 ENSE00000890969 012 11 3036966 3037135 - 45 69 56 G A 3037068 152 68 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCTGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015837 3015838 3015838 exon 12 0.173913043478261 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCTGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 105 2332 0.950608612198061 0.917964010112334 0.934286311155198 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA -0.0465328086958017 -0.0710023359942291 0.93283066954261 0.993053883500213 NA -0.0587675723450154 NA FALSE NA 1 0.651 rs148488935 synonymous_variant LOW CARS HGNC 1493 ENST00000278224 16/22 rs148488935 1 NA A:0.0002 A:0 CGG G,A 5.765e-05 11:3015838 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 synonymous_variant 2.05817 0.9528 0.68834 0.706548 0.595523011070439 0 2.96288607598974e-06 FALSE 8.12367e-05 ENSE00000890969_013 ENSE00000890969 013 11 3036966 3037135 - 45 69 56 A G 3037078 153 58 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGACCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015847 3015848 3015848 exon 2 0.0289855072463768 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGACCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 221 381 0.937741473514782 0.894095389341839 0.915918431428311 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA -0.0593999473790803 -0.0948709567647243 0.93283066954261 0.993053883500213 NA -0.0771354520719023 NA FALSE NA 1 4.367 . missense_variant&splice_region_variant MODERATE CARS HGNC 1493 ENST00000278224 16/22 1 tolerated(0.07) benign(0.152) NA GAT A,G 8.236e-06 11:3015848 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 missense_variant 2.734629 0.98744 0.96279 0.706548 0.978240029075177 0 2.96288607598974e-06 FALSE 1.21868e-05 ENSE00000890969_014 ENSE00000890969 014 11 3036966 3037135 - 45 69 56 A C 3037091 154 45 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTGTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015860 3015861 3015861 upstr_intron -12 -0.196428571428571 CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTGTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 490 87 0.994145175953713 0.95 0.972072587976856 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA -0.00299624494014938 -0.0389663461065636 0.93283066954261 0.993053883500213 NA -0.0209812955233565 NA FALSE NA 0.033 0.19 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 15/21 1 NA AAA A,C 2.471e-05 11:3015861 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 intron_variant 0.626884 0.20019 0.14593 0.062308 0.754605176401632 0.16129 2.96288607598974e-06 FALSE 1.21923e-05 ENSE00000890969_017 ENSE00000890969 017 11 3036966 3037135 - 45 69 56 C T 3037112 157 24 CCACATGCCGCCTTCATCTTGCCACAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 3015881 3015882 3015882 upstr_intron -33 -0.571428571428571 CCACATGCCGCCTTCATCTTGCCACAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC mutant NA NA NA NA NA 851 49 0.998882405634073 1 0.999441202817036 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 NA NA 0.00174098474021045 0.0110336538934366 0.93283066954261 0.993053883500213 NA 0.00638731931682351 NA FALSE NA 0 -2.038 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 15/21 1 NA GCG C,T 4.942e-05 11:3015882 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003612036 intron_variant -0.312246 0.08255 0.00145 0.062308 0.698846509363106 0.112898 2.96288607598974e-06 FALSE 0.000110078 ENSE00000890969_BRK ENSE00000890969 BRK 11 3036966 3037135 - 45 69 56 A,G; T,T NA NA NA CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTTTATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTCCGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC 3015735 3015905 NA NA NA NA NA NA CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTTTATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTCCGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC CCACATGCCGCCTTCATCTTGCCGCAGCTTCAGGTCCCATCTGTTTCTTTTCCTAGATCTTTGGGGCCGTAGAAGAGGACAGCTCCCTGGGATTCCCGGTCGGAGGGCCTGGAACCAGCCTCAGTGTGAGTAGCATGCAGGGTCCTGCCTTCTGCACCTGCTCCCTCCCC control 27 17 0 0 0 NA NA NA NA NA 0.891695437372004 0.973965901713215 0.997141420893862 0.988966346106563 -0.891695437372004 -0.973965901713215 NA NA 0.93283066954261 0.993053883500213 -0.93283066954261 NA NA NA TRUE NA NA NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS NA NA NA ENSG00000110619 ENSE00003612036 NA NA NA NA NA NA NA 2.96288607598974e-06 FALSE NA ENSE00000892383_000 ENSE00000892383 000 19 2138586 2138755 - 32 96 42 NA NA NA NA NA GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 NA NA NA NA NA NA TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC natural NA NA NA NA NA 1133 1097 0.958373210835462 0.995189686068458 0.97678144845196 NA NA 0.958373210835462 0.995189686068458 NA NA 0 0 NA 0.97678144845196 NA 0 NA FALSE NA NA NA NA NA NA AP3D1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP3D1 NA NA NA ENSG00000065000 ENSE00003554308 NA NA NA NA NA NA NA 0.798002533603789 FALSE NA ENSE00000892383_001 ENSE00000892383 001 19 2138586 2138755 - 32 96 42 C A 2138601 111 155 GTGCTGGGCGCTGGCAACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138601 2138602 2138602 downstr_intron 17 1.54838709677419 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTTGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 450 107 0.993370466610977 0.999643534608299 0.996507000609638 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0349972557755147 0.00445384853984077 NA 0.97678144845196 NA 0.0197255521576777 NA FALSE NA 0.001 1.415 . intron_variant MODIFIER AP3D1 HGNC 568 ENST00000356926 2/30 1 NA CCA C,A 1.65e-05 19:2138602 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 intron_variant 0.246229 0.23288 0.16705 0.256867 0.749131083329801 0.0679166 0.798002533603789 FALSE 8.14346e-06 ENSE00000892383_005 ENSE00000892383 005 19 2138586 2138755 - 32 96 42 G A 2138622 115 134 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACATCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138622 2138623 2138623 exon -5 0.958333333333333 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGATGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 123 178 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 1 9.306 . missense_variant MODERATE AP3D1 HGNC 568 ENST00000356926 2/31 1 benign(0.001) NA CGT G,A 8.247e-06 19:2138623 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 missense_variant 6.908416 0.9742 0.98512 0.67177 0.997041654671599 0 0.798002533603789 FALSE NA ENSE00000892383_007 ENSE00000892383 007 19 2138586 2138755 - 32 96 42 G A 2138630 117 126 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTACAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138630 2138631 2138631 exon -13 0.875 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGTAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 530 246 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 1 6.139 . synonymous_variant LOW AP3D1 HGNC 568 ENST00000356926 2/31 1 NA TGC G,A 8.248e-06 19:2138631 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 synonymous_variant 1.133504 0.95957 0.96513 0.67177 0.752192849360742 0 0.798002533603789 FALSE 4.0654e-06 ENSE00000892383_008 ENSE00000892383 008 19 2138586 2138755 - 32 96 42 G A 2138639 118 117 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCATTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138639 2138640 2138640 exon -22 0.78125 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAATGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 198 156 0.935616343842566 1 0.967808171921283 NA NA 0.958373210835462 0.995189686068458 NA NA -0.0227568669928966 0.00481031393154185 NA 0.97678144845196 NA -0.00897327653067737 NA FALSE NA 0.055 -0.542 . synonymous_variant LOW AP3D1 HGNC 568 ENST00000356926 2/31 1 NA CGT G,A 5.774e-05 19:2138640 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 synonymous_variant 1.209594 0.85475 0.37077 0.67177 0.679465014216638 0 0.798002533603789 FALSE 4.06441e-05 ENSE00000892383_009 ENSE00000892383 009 19 2138586 2138755 - 32 96 42 C T 2138642 119 114 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTTGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138642 2138643 2138643 exon -25 0.75 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCAAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 461 947 0.998110107592264 0.996383306123252 0.997246706857758 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0397368967568011 0.0011936200547934 NA 0.97678144845196 NA 0.0204652584057973 NA FALSE NA 0.84 -0.177 . synonymous_variant LOW AP3D1 HGNC 568 ENST00000356926 2/31 1 NA TCG C,T 8.25e-06 19:2138643 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 synonymous_variant 2.187798 0.77214 0.5925 0.67177 0.784327998846156 0 0.798002533603789 FALSE 8.12843e-06 ENSE00000892383_012 ENSE00000892383 012 19 2138586 2138755 - 32 96 42 T G 2138654 122 102 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCGATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138654 2138655 2138655 exon -37 0.625 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATCGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 290 42 1 0.934533349173024 0.967266674586512 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 -0.0606563368954341 NA 0.97678144845196 NA -0.0095147738654483 NA FALSE NA 1 0.765 rs25672 synonymous_variant LOW AP3D1 HGNC 568 ENST00000356926 2/31 COSM4131538&COSM4131540&COSM4131539 1 NA CTA G,G 0.34 19:2138655 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 synonymous_variant 1.514958 0.81618 0.36162 0.67177 0.774075473859605 0 0.798002533603789 FALSE 0.339944 ENSE00000892383_014 ENSE00000892383 014 19 2138586 2138755 - 32 96 42 C T 2138675 124 81 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCTTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138675 2138676 2138676 exon 39 0.40625 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAAGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 162 168 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 0.964 0.125 . synonymous_variant LOW AP3D1 HGNC 568 ENST00000356926 2/31 1 NA CCT C,T 8.257e-06 19:2138676 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 synonymous_variant 2.020621 0.8785 0.74634 0.67177 0.682936327684449 0 0.798002533603789 FALSE 2.84541e-05 ENSE00000892383_015 ENSE00000892383 015 19 2138586 2138755 - 32 96 42 G C 2138681 125 75 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTCATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138681 2138682 2138682 exon 33 0.34375 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATGAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 16 55 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 1 3.909 . missense_variant MODERATE AP3D1 HGNC 568 ENST00000356926 2/31 rs573198538 1 benign(0.027) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGA G,C 8.258e-06 19:2138682 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 missense_variant 5.093378 0.91936 0.94826 0.67177 0.995102503955071 0 0.798002533603789 FALSE 4.0655e-06 ENSE00000892383_018 ENSE00000892383 018 19 2138586 2138755 - 32 96 42 G A 2138700 128 56 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAAATATGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138700 2138701 2138701 exon 14 0.145833333333333 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATTTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 163 80 0.998219150848618 0.979609554328417 0.988914352588518 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0398459400131559 -0.0155801317400408 NA 0.97678144845196 NA 0.0121329041365575 NA FALSE NA 1 9.306 . missense_variant MODERATE AP3D1 HGNC 568 ENST00000356926 2/31 1 benign(0.007) NA AGA G,A 1.653e-05 19:2138701 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 missense_variant 6.140939 0.95333 0.97721 0.67177 0.994448270963534 0 0.798002533603789 FALSE 8.14233e-06 ENSE00000892383_020 ENSE00000892383 020 19 2138586 2138755 - 32 96 42 A G 2138703 130 53 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATGTGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138703 2138704 2138704 exon 11 0.114583333333333 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACACATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 24 52 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 1 8.809 . missense_variant MODERATE AP3D1 HGNC 568 ENST00000356926 2/31 rs370997687 1 benign(0.003) NA G:0 G:0.0001 TAT A,G 8.269e-06 19:2138704 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 missense_variant 5.685162 0.9641 0.9822 0.67177 0.992751024993599 0 0.798002533603789 FALSE 2.03596e-05 ENSE00000892383_021 ENSE00000892383 021 19 2138586 2138755 - 32 96 42 T C 2138704 131 52 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATACGTATTTTGCCTATAATGGGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138704 2138705 2138705 exon 10 0.104166666666667 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACGTATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 29 349 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 1 4.772 . missense_variant MODERATE AP3D1 HGNC 568 ENST00000356926 2/31 rs200421680 1 benign(0.003) NA C:0 C:0.0004 ATG T,C 0.0001654 19:2138705 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 missense_variant 4.101193 0.97253 0.94315 0.67177 0.9945811076608 0 0.798002533603789 FALSE 0.000179203 ENSE00000892383_023 ENSE00000892383 023 19 2138586 2138755 - 32 96 42 G C 2138722 133 34 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGCGGGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138722 2138723 2138723 upstr_intron -9 -0.19047619047619 TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCGCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 65 27 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 0.114 1.604 . intron_variant MODIFIER AP3D1 HGNC 568 ENST00000356926 1/30 1 NA GGG G,C 4.137e-05 19:2138723 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 intron_variant -0.372265 0.20588 0.13008 0.069865 0.441522970135806 0.046875 0.798002533603789 FALSE 2.04663e-05 ENSE00000892383_025 ENSE00000892383 025 19 2138586 2138755 - 32 96 42 G A 2138724 135 32 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGAGATAAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138724 2138725 2138725 upstr_intron -11 -0.238095238095238 TAGCTGGATGTTTGTAATCTCTGTGTTTATCTCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 314 27 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 0 0.422 . intron_variant MODIFIER AP3D1 HGNC 568 ENST00000356926 1/30 1 NA GGG G,A 1.655e-05 19:2138725 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 intron_variant -0.116033 0.15335 0.03165 0.069865 0.323070528484715 0.046875 0.798002533603789 FALSE 8.18934e-06 ENSE00000892383_026 ENSE00000892383 026 19 2138586 2138755 - 32 96 42 A G 2138728 136 28 GTGCTGGGCGCTGGCCACTGGGAGGCACTTACATACGTCAGCTTGCAGACCGCGTTCGCCTTCACCGCTATGTTGTCCTGCTTCAGCTCCTGCTTGATCTCATCAATGCACTGAGATATGTATTTTGCCTATAATGGGGGATGAACACAGAGATTACAAACATCCAGCTA 2138586 2138756 2138728 2138729 2138729 upstr_intron -15 -0.333333333333333 TAGCTGGATGTTTGTAATCTCTGTGTTCATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC TAGCTGGATGTTTGTAATCTCTGTGTTTATCCCCCATTATAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGTAAGTGCCTCCCAGTGGCCAGCGCCCAGCAC mutant NA NA NA NA NA 111 27 1 1 1 NA NA 0.958373210835462 0.995189686068458 NA NA 0.0416267891645375 0.00481031393154185 NA 0.97678144845196 NA 0.0232185515480397 NA FALSE NA 0.001 0.496 . intron_variant MODIFIER AP3D1 HGNC 568 ENST00000356926 1/30 1 NA TAA A,G 8.273e-06 19:2138729 AP3D1 HGNC Symbol protein_coding 63480 ENSG00000065000 ENSE00003554308 intron_variant -0.32029 0.17148 0.04265 0.069865 0.355436281626873 0.046875 0.798002533603789 FALSE 4.10293e-06 ENSE00000893115_000 ENSE00000893115 000 12 4873076 4873245 + 42 96 32 NA NA NA NA NA TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG 4763909 4764079 NA NA NA NA NA NA TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG natural 67 38 0.829443070262108 0.983040646605245 0.906241858433676 3092 2688 0.912981154262756 0.993948018744394 0.953464586503575 0.829443070262108 0.983040646605245 0.912981154262756 0.993948018744394 0 0 0 0 0.906241858433676 0.953464586503575 0 0 0 FALSE FALSE NA NA NA NA NA GALNT8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GALNT8 NA NA NA ENSG00000130035 ENSE00000893115 NA NA NA NA NA NA NA 1.87452420046286e-10 FALSE NA ENSE00000893115_007 ENSE00000893115 007 12 4873076 4873245 + 42 96 32 T C 4873143 237 68 TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGCCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG 4763909 4764079 4763976 4763977 4763977 exon 26 0.270833333333333 TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGCCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG mutant NA NA NA NA NA 665 35 0.762603079100931 0.951860221375088 0.857231650238009 0.829443070262108 0.983040646605245 0.912981154262756 0.993948018744394 NA NA -0.150378075161825 -0.0420877973693063 0.906241858433676 0.953464586503575 NA -0.0962329362655657 NA FALSE NA 0.119 4.259 . missense_variant MODERATE GALNT8 HGNC 4130 ENST00000535354 1/3 1 tolerated(0.19) benign(0.02) NA GTC T,C 8.236e-06 12:4763977 GALNT8 HGNC Symbol protein_coding 131586 ENSG00000130035 ENSE00000893115 missense_variant 0.96719 0.72535 0.7629 0.696267 0.983042662865734 0 1.87452420046286e-10 FALSE 4.06105e-06 ENSE00000893115_009 ENSE00000893115 009 12 4873076 4873245 + 42 96 32 G T 4873151 239 76 TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGTATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG 4763909 4764079 4763984 4763985 4763985 exon 34 0.354166666666667 TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGTATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG mutant NA NA NA NA NA 392 49 0.981651097680932 0.995958793283783 0.988804945482357 0.829443070262108 0.983040646605245 0.912981154262756 0.993948018744394 NA NA 0.0686699434181759 0.00201077453938858 0.906241858433676 0.953464586503575 NA 0.0353403589787822 NA FALSE NA 1 7.216 . missense_variant MODERATE GALNT8 HGNC 4130 ENST00000535354 1/3 1 deleterious(0) probably_damaging(0.999) NA GGA G,T 8.236e-06 12:4763985 GALNT8 HGNC Symbol protein_coding 131586 ENSG00000130035 ENSE00000893115 missense_variant 5.327346 0.96359 0.96078 0.696267 0.988636676523568 0 1.87452420046286e-10 FALSE 4.06091e-06 ENSE00000893115_011 ENSE00000893115 011 12 4873076 4873245 + 42 96 32 A G 4873159 241 84 TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGGCCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG 4763909 4764079 4763992 4763993 4763993 exon 42 0.4375 TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGGCCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG mutant NA NA NA NA NA 20 153 1 1 1 0.829443070262108 0.983040646605245 0.912981154262756 0.993948018744394 NA NA 0.0870188457372441 0.0060519812556058 0.906241858433676 0.953464586503575 NA 0.0465354134964249 NA FALSE NA 0 -1.827 . synonymous_variant LOW GALNT8 HGNC 4130 ENST00000535354 1/3 1 NA GAC A,G 8.237e-06 12:4763993 GALNT8 HGNC Symbol protein_coding 131586 ENSG00000130035 ENSE00000893115 synonymous_variant -0.686262 0.18173 0.07111 0.696267 0.297651283302376 0 1.87452420046286e-10 FALSE 4.06098e-06 ENSE00000893115_018 ENSE00000893115 018 12 4873076 4873245 + 42 96 32 A G 4873188 248 113 TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTGTTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG 4763909 4764079 4764021 4764022 4764022 exon -26 0.739583333333333 TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTGTTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG mutant NA NA NA NA NA 49 139 0.906331005672184 1 0.953165502836092 0.829443070262108 0.983040646605245 0.912981154262756 0.993948018744394 NA NA -0.00665014859057234 0.0060519812556058 0.906241858433676 0.953464586503575 NA -0.000299083667483269 NA FALSE NA 0.241 3.138 . missense_variant MODERATE GALNT8 HGNC 4130 ENST00000535354 1/3 1 deleterious(0.01) benign(0.18) NA TAT A,G 8.236e-06 12:4764022 GALNT8 HGNC Symbol protein_coding 131586 ENSG00000130035 ENSE00000893115 missense_variant 1.607292 0.2785 0.40847 0.696267 0.982568198548281 0 1.87452420046286e-10 FALSE 4.06121e-06 ENSE00000893115_BRK ENSE00000893115 BRK 12 4873076 4873245 + 42 96 32 A,G; T,T NA NA NA TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCTTATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGCCATCTTCCACAATCTTCCTGGCCCTGCCTGG 4763909 4764079 NA NA NA NA NA NA TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCTTATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGCCATCTTCCACAATCTTCCTGGCCCTGCCTGG TGTCCTTTCTAACAGTGTTGCCGTGTGTTTTGTCCCCTTCAGATGAAAAACCTATTGGATGAAAATGTCTGCTTGGATCAGGGACCCGTTCCAGGCAACACCCCCATCATGTATTACTGCCATGAATTCAGCTCACAGGTATCTTCCACAATCTTCCTGGCCCTGCCTGG control NA NA NA NA NA 149 1702 0 0.00665647781220225 0.00332823890610112 0.829443070262108 0.983040646605245 0.912981154262756 0.993948018744394 NA NA -0.912981154262756 -0.987291540932192 0.906241858433676 0.953464586503575 NA -0.950136347597474 NA TRUE NA NA NA NA NA NA GALNT8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GALNT8 NA NA NA ENSG00000130035 ENSE00000893115 NA NA NA NA NA NA NA 1.87452420046286e-10 FALSE NA ENSE00000894027_000 ENSE00000894027 000 19 11422767 11422936 + 48 84 38 NA NA NA NA NA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 NA NA NA NA NA NA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA natural 55 55 0.992311799436812 0.989101548756473 0.990706674096643 1485 1313 0.991836117831525 0.995060844125717 0.993448480978621 0.992311799436812 0.989101548756473 0.991836117831525 0.995060844125717 0 0 0 0 0.990706674096643 0.993448480978621 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN16 NA NA NA ENSG00000130167 ENSE00003681996 NA NA NA NA NA NA NA 0.000252237775125353 FALSE NA ENSE00000894027_BRK ENSE00000894027 BRK 19 11422767 11422936 + 48 84 38 A,G; T,T NA NA NA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCTTGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGCCAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 NA NA NA NA NA NA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCTTGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGCCAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA control 54 17 0 0 0 162 3686 0 0.00801146895934469 0.00400573447967234 0.992311799436812 0.989101548756473 0.991836117831525 0.995060844125717 -0.992311799436812 -0.989101548756473 -0.991836117831525 -0.987049375166373 0.990706674096643 0.993448480978621 -0.990706674096643 -0.989442746498949 0.00126392759769378 TRUE TRUE NA NA NA NA NA TSPAN16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN16 NA NA NA ENSG00000130167 ENSE00003681996 NA NA NA NA NA NA NA 0.000252237775125353 FALSE NA ENSE00000894187_000 ENSE00000894187 000 6 159190325 159190494 - 33 93 44 NA NA NA NA NA GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 NA NA NA NA NA NA GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC natural 38 115 0.907010485613005 0.807696572009338 0.857353528811172 4500 3308 0.914907279818207 0.884324199903442 0.899615739860825 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 0 0 0 0 0.857353528811172 0.899615739860825 0 0 0 FALSE FALSE NA NA NA NA NA SYTL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EZR NA NA NA ENSG00000092820 ENSE00000894187 NA NA NA NA NA NA NA 0.988110189680017 TRUE NA ENSE00000894187_001 ENSE00000894187 001 6 159190325 159190494 - 33 93 44 G A 159190336 2628 159 GGCCGTGCGGAAGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769303 158769304 158769304 downstr_intron 22 1.6875 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACTTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 1511 1453 0.998932931822743 0.997984240039913 0.998458585931328 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0840256520045359 0.113660040136471 0.857353528811172 0.899615739860825 NA 0.0988428460705033 NA FALSE NA 0 -0.552 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA AGG G,A 2.471e-05 6:158769304 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 intron_variant -0.005416 0.08249 0.00451 0.256867 0.682610902582523 0.086439 0.988110189680017 TRUE 1.66221e-05 ENSE00000894187_002 ENSE00000894187 002 6 159190325 159190494 - 33 93 44 G A 159190337 2629 158 GGCCGTGCGGAGATGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769304 158769305 158769305 downstr_intron 21 1.65625 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACATCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 1550 645 0.994600823380834 0.996127342867811 0.995364083124322 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0796935435626264 0.111803142964369 0.857353528811172 0.899615739860825 NA 0.0957483432634978 NA FALSE NA 0.032 3.762 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA GGT G,A 3.295e-05 6:158769305 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 intron_variant 0.38328 0.16312 0.40609 0.256867 0.842454049229624 0.086439 0.988110189680017 TRUE 1.6619e-05 ENSE00000894187_004 ENSE00000894187 004 6 159190325 159190494 - 33 93 44 G A 159190346 2631 149 GGCCGTGCGGAGGTGTCCCCCATGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769313 158769314 158769314 downstr_intron 12 1.375 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCATGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 2693 2187 0.955881844112275 0.965226992075309 0.960554418093792 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0409745642940679 0.0809027921718675 0.857353528811172 0.899615739860825 NA 0.0609386782329677 NA FALSE NA 0 -0.053 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs368743946 1 NA A:0 A:0.0002 CGT G,A 7.413e-05 6:158769314 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 intron_variant -0.079248 0.08701 0.01316 0.256867 0.571404456821663 0.086439 0.988110189680017 TRUE 5.37803e-05 ENSE00000894187_007 ENSE00000894187 007 6 159190325 159190494 - 33 93 44 G A 159190361 2634 134 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTATGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769328 158769329 158769329 exon -4 0.967741935483871 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCATAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 701 923 0.800062611493951 0.997858437351793 0.898960524422872 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA -0.114844668324256 0.113534237448351 0.857353528811172 0.899615739860825 NA -0.000655215437952383 NA FALSE NA 1 3.053 rs149639049 downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs149639049 1 A:0.0004 A:0.0008 A:0 NA A:0.001 A:0 A:0 TGT G,A 4.942e-05 6:158769329 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 0.872249 0.87593 0.87088 0.706548 0.888759895559293 0 0.988110189680017 TRUE 4.52805e-05 ENSE00000894187_008 ENSE00000894187 008 6 159190325 159190494 - 33 93 44 C T 159190370 2635 125 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCATTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769337 158769338 158769338 exon -13 0.870967741935484 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAATGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 710 1677 0.998268819479981 1 0.99913440973999 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0833615396617735 0.115675800096558 0.857353528811172 0.899615739860825 NA 0.0995186698791658 NA FALSE NA 0.276 0.245 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA ACT C,T 8.236e-06 6:158769338 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 2.05682 0.86356 0.62572 0.706548 0.910498983034501 0 0.988110189680017 TRUE 4.11076e-06 ENSE00000894187_009 ENSE00000894187 009 6 159190325 159190494 - 33 93 44 T G 159190371 2636 124 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACGCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769338 158769339 158769339 exon -14 0.860215053763441 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGCGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 76 956 1 0.988580768357894 0.994290384178947 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0850927201817928 0.104256568454453 0.857353528811172 0.899615739860825 NA 0.0946746443181227 NA FALSE NA 0.268 1.873 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:158769339 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 2.048747 0.85032 0.74517 0.706548 0.976421217531692 0 0.988110189680017 TRUE 1.64434e-05 ENSE00000894187_010 ENSE00000894187 010 6 159190325 159190494 - 33 93 44 T A 159190371 2637 124 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACACTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769338 158769339 158769339 exon -14 0.860215053763441 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGTGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 4015 2000 0.975412765549223 0.999822761843199 0.987617763696211 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0605054857310159 0.115498561939757 0.857353528811172 0.899615739860825 NA 0.0880020238353865 NA FALSE NA 0.268 1.873 NA NA NA SYTL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EZR NA NA NA ENSG00000092820 ENSE00000894187 missense_variant 3.43345 0.84947 0.78375 0.706548 0.977708863108276 0 0.988110189680017 TRUE 2.05543e-05 ENSE00000894187_011 ENSE00000894187 011 6 159190325 159190494 - 33 93 44 T C 159190374 2638 121 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTCCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769341 158769342 158769342 exon -17 0.827956989247312 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGGAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 1865 635 0.995329449945911 0.996030012579182 0.995679731262546 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0804221701277034 0.11170581267574 0.857353528811172 0.899615739860825 NA 0.0960639914017217 NA FALSE NA 0.01 2.129 rs151079610 downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs151079610 1 NA C:0 C:0.0001 TTC T,C 8.236e-06 6:158769342 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 2.98819 0.34247 0.34796 0.706548 0.995353665806253 0 0.988110189680017 TRUE 4.11005e-06 ENSE00000894187_013 ENSE00000894187 013 6 159190325 159190494 - 33 93 44 C T 159190392 2640 103 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGTGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769359 158769360 158769360 exon -35 0.634408602150538 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCACAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 500 354 0.991344796926984 0.998041124070892 0.994692960498938 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0764375171087764 0.11371692416745 0.857353528811172 0.899615739860825 NA 0.0950772206381132 NA FALSE NA 0.998 0.858 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA GCG C,T 1.647e-05 6:158769360 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 4.747375 0.91765 0.80636 0.706548 0.999407996327993 0 0.988110189680017 TRUE 1.64643e-05 ENSE00000894187_015 ENSE00000894187 015 6 159190325 159190494 - 33 93 44 C T 159190394 2642 101 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGTCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769361 158769362 158769362 exon -37 0.612903225806452 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGACGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 1360 648 0.99796308363058 0.999755860088354 0.998859471859467 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0830558038123732 0.115431660184912 0.857353528811172 0.899615739860825 NA 0.0992437319986424 NA FALSE NA 0.659 0.61 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA GCC C,T 8.236e-06 6:158769362 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 2.306614 0.86762 0.40839 0.706548 0.914391399480185 0 0.988110189680017 TRUE NA ENSE00000894187_016 ENSE00000894187 016 6 159190325 159190494 - 33 93 44 C T 159190398 2643 97 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCTGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769365 158769366 158769366 exon -41 0.56989247311828 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCAGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 1163 505 0.99718533194408 1 0.99859266597204 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0822780521258727 0.115675800096558 0.857353528811172 0.899615739860825 NA 0.0989769261112154 NA FALSE NA 0.997 2.261 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs201721119 1 NA CCG C,T 0.0001483 6:158769366 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 4.106793 0.90413 0.80313 0.706548 0.997550371188042 0 0.988110189680017 TRUE 0.000107005 ENSE00000894187_017 ENSE00000894187 017 6 159190325 159190494 - 33 93 44 G A 159190399 2644 96 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCACGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769366 158769367 158769367 exon -42 0.559139784946237 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGTGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 500 149 0.981397286767932 0.974772514740726 0.978084900754329 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0664900069497253 0.0904483148372838 0.857353528811172 0.899615739860825 NA 0.0784691608935045 NA FALSE NA 0.996 3.037 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA CGC G,A 3.295e-05 6:158769367 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 6.453366 0.86108 0.86339 0.706548 0.997602070004565 0 0.988110189680017 TRUE 3.70358e-05 ENSE00000894187_018 ENSE00000894187 018 6 159190325 159190494 - 33 93 44 C T 159190400 2645 95 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGTGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769367 158769368 158769368 exon -43 0.548387096774194 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCACGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 2791 773 0.999219972011564 0.999901474298506 0.999560723155035 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0843126921933571 0.115577274395064 0.857353528811172 0.899615739860825 NA 0.0999449832942108 NA FALSE NA 0 -10.829 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs201052913 1 NA GCG C,T 0.0001318 6:158769368 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 2.746664 0.85633 0.08512 0.706548 0.932463662859643 0 0.988110189680017 TRUE 0.000131666 ENSE00000894187_019 ENSE00000894187 019 6 159190325 159190494 - 33 93 44 G A 159190401 2646 94 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCACCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769368 158769369 158769369 exon -44 0.537634408602151 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGTGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 943 531 0.996365248992333 0.995812450210304 0.996088849601318 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0814579691741257 0.111488250306862 0.857353528811172 0.899615739860825 NA 0.0964731097404938 NA FALSE NA 1 7.618 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs372349918 1 NA A:0.0002 A:0 CGC G,A 1.647e-05 6:158769369 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 3.925957 0.92901 0.96283 0.706548 0.999206416798715 0 0.988110189680017 TRUE 2.88251e-05 ENSE00000894187_020 ENSE00000894187 020 6 159190325 159190494 - 33 93 44 T C 159190406 2647 89 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCCTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769373 158769374 158769374 exon 45 0.483870967741935 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAGGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 4461 139 0.998003790853517 1 0.999001895426758 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0830965110353096 0.115675800096558 0.857353528811172 0.899615739860825 NA 0.0993861555659338 NA FALSE NA 0.998 0.51 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA CTT T,C 8.236e-06 6:158769374 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 0.048577 0.85621 0.42525 0.706548 0.730841934880408 0 0.988110189680017 TRUE 4.11709e-06 ENSE00000894187_021 ENSE00000894187 021 6 159190325 159190494 - 33 93 44 C G 159190409 2648 86 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCGAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769376 158769377 158769377 exon 42 0.451612903225806 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTCGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 795 616 0.894570300812048 0.987438089141061 0.941004194976555 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA -0.0203369790061587 0.103113889237619 0.857353528811172 0.899615739860825 NA 0.04138845511573 NA FALSE NA 1 0.643 rs141046324 downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs141046324 1 NA G:0.0002 G:0.001 CCA C,G 0.0003624 6:158769377 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 1.490561 0.88932 0.81634 0.706548 0.846253515532369 0 0.988110189680017 TRUE 0.00035834 ENSE00000894187_022 ENSE00000894187 022 6 159190325 159190494 - 33 93 44 G A 159190412 2649 83 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGAAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769379 158769380 158769380 exon 39 0.419354838709677 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTTCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 188 2369 1 0.997982788816326 0.998991394408163 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0850927201817928 0.113658588912884 0.857353528811172 0.899615739860825 NA 0.0993756545473387 NA FALSE NA 0.949 -0.027 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA GGA G,A 8.236e-06 6:158769380 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 1.327189 0.86237 0.67113 0.706548 0.897594211158581 0 0.988110189680017 TRUE 8.24063e-06 ENSE00000894187_023 ENSE00000894187 023 6 159190325 159190494 - 33 93 44 A G 159190413 2650 82 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGGGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769380 158769381 158769381 exon 38 0.408602150537634 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCCCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 299 602 1 0.998339223925904 0.999169611962952 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0850927201817928 0.114015024022462 0.857353528811172 0.899615739860825 NA 0.0995538721021274 NA FALSE NA 1 5.143 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA GAG A,G 1.647e-05 6:158769381 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 5.270927 0.92963 0.94629 0.706548 0.998843277662514 0 0.988110189680017 TRUE 8.24056e-06 ENSE00000894187_024 ENSE00000894187 024 6 159190325 159190494 - 33 93 44 G A 159190425 2651 70 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGACAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769392 158769393 158769393 exon 26 0.279569892473118 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGTCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 610 208 0.996149452054412 0.999816824982899 0.997983138518655 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0812421722362046 0.115492625079457 0.857353528811172 0.899615739860825 NA 0.098367398657831 NA FALSE NA 1 6.443 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 COSM1075458 1 NA GGC G,A 8.236e-06 6:158769393 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 3.479982 0.92773 0.94838 0.706548 0.999218933090854 0 0.988110189680017 TRUE 4.13414e-06 ENSE00000894187_025 ENSE00000894187 025 6 159190325 159190494 - 33 93 44 A T 159190427 2652 68 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCTGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769394 158769395 158769395 exon 24 0.258064516129032 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACAGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 204 407 1 1 1 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0850927201817928 0.115675800096558 0.857353528811172 0.899615739860825 NA 0.100384260139175 NA FALSE NA 0 -6.273 rs1135079 downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs1135079 1 T:0.0040 T:0.0151 T:0 NA T:0 T:0 T:0 T:0.0145 T:0.0003 CAG A,T 0.00126 6:158769395 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 0.447165 0.78592 0.0858 0.706548 0.868650387793819 0 0.988110189680017 TRUE 0.000959375 ENSE00000894187_026 ENSE00000894187 026 6 159190325 159190494 - 33 93 44 T C 159190433 2653 62 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTACTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769400 158769401 158769401 exon 18 0.193548387096774 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAGTACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 680 2077 0.999271491494723 0.999187118703841 0.999229305099282 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0843642116765154 0.1148629188004 0.857353528811172 0.899615739860825 NA 0.0996135652384575 NA FALSE NA 0.949 -0.046 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA ATT T,C 8.236e-06 6:158769401 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 synonymous_variant 0.350558 0.86058 0.41753 0.706548 0.718584213230982 0 0.988110189680017 TRUE 4.14442e-06 ENSE00000894187_027 ENSE00000894187 027 6 159190325 159190494 - 33 93 44 C T 159190447 2654 48 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGTAGCCTGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 158769414 158769415 158769415 exon 4 0.043010752688172 GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTACGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 1542 2436 0.907415054375609 0.977456516432784 0.942435785404197 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA -0.00749222544259787 0.0931323165293422 0.857353528811172 0.899615739860825 NA 0.0428200455433722 NA FALSE NA 0.886 0.212 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 rs376423496 1 NA T:0 T:0.0001 GCA C,T 1.647e-05 6:158769415 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 missense_variant 2.919979 0.78096 0.62262 0.706548 0.992132446564716 0 0.988110189680017 TRUE 8.33702e-06 ENSE00000894187_030 ENSE00000894187 030 6 159190325 159190494 - 33 93 44 C T 159190474 2657 21 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCATGTCAGTTCTGATATCCTTTC 158769292 158769462 158769441 158769442 158769442 upstr_intron -24 -0.522727272727273 GAAAGGATATCAGAACTGACATGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 1869 1415 0.997778793566563 0.996624028259788 0.997201410913176 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0828715137483559 0.112299828356346 0.857353528811172 0.899615739860825 NA 0.0975856710523512 NA FALSE NA 0 0.125 . downstream_gene_variant MODIFIER SYTL3 HGNC 15587 ENST00000367081 1 NA ACG C,T 1.647e-05 6:158769442 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 intron_variant 0.441769 0.13045 0.07389 0.075938 0.622354646509001 0.0648863 0.988110189680017 TRUE 1.26952e-05 ENSE00000894187_031 ENSE00000894187 031 6 159190325 159190494 - 33 93 44 G A 159190475 2658 20 GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCACCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCCTGGGAAGGGAATGCCAAGCTCACATCAGTTCTGATATCCTTTC 158769292 158769462 158769442 158769443 158769443 upstr_intron -25 -0.545454545454545 GAAAGGATATCAGAACTGATGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC mutant NA NA NA NA NA 1066 1039 0.966249457654988 0.996451323602784 0.981350390628886 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 NA NA 0.0513421778367809 0.112127123699342 0.857353528811172 0.899615739860825 NA 0.0817346507680616 NA FALSE NA 0 0.27 NA NA NA SYTL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:158769443 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00000894187 intron_variant 0.443458 0.13099 0.06368 0.075938 0.594225416580252 0.0648863 0.988110189680017 TRUE 2.96565e-05 ENSE00000894187_BRK ENSE00000894187 BRK 6 159190325 159190494 - 33 93 44 A,G; T,T NA NA NA GGCCGTGCGGAGGTGTCCCCCGTGCAGACTCGGCCTGTGCTGCCACTCTTCAACTTCATCCTCCTTGCGCCTCCGCGCCTCTTCCAGGAGGGCAATCTTGGCAGTGTATTCTGCAAGCTCCGCAGCAAGGGAAGGGAATGCCAAGCTCACGTCAGTTCTGATATCCTTTC 158769292 158769462 NA NA NA NA NA NA GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCTTGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGCCGAGTCTGCACGGGGGACACCTCCGCACGGCC GAAAGGATATCAGAACTGACGTGAGCTTGGCATTCCCTTCCCAGGCTGCGGAGCTTGCAGAATACACTGCCAAGATTGCCCTCCTGGAAGAGGCGCGGAGGCGCAAGGAGGATGAAGTTGAAGAGTGGCAGCACAGGGTGAGTCTGCACGGGGGACACCTCCGCACGGCC control 583 1026 0 0 0 1489 569 0.00121108020275072 0.00201790114788683 0.00161449067531877 0.907010485613005 0.807696572009338 0.914907279818207 0.884324199903442 -0.907010485613005 -0.807696572009338 -0.913696199615456 -0.882306298755555 0.857353528811172 0.899615739860825 -0.857353528811172 -0.898001249185506 0.0406477203743343 TRUE TRUE NA NA NA NA NA SYTL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EZR NA NA NA ENSG00000092820 ENSE00000894187 NA NA NA NA NA NA NA 0.988110189680017 TRUE NA ENSE00000895235_000 ENSE00000895235 000 19 17883225 17883394 + 41 99 30 NA NA NA NA NA CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCGCTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT 17772415 17772585 NA NA NA NA NA NA CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCGCTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCGCTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT natural 351 468 0.821167828017257 0.888213534501764 0.854690681259511 1220 1320 0.952865439834678 0.965647260862923 0.9592563503488 0.821167828017257 0.888213534501764 0.952865439834678 0.965647260862923 0 0 0 0 0.854690681259511 0.9592563503488 0 0 0 FALSE FALSE NA NA NA NA NA FCHO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCHO1 NA NA NA ENSG00000130475 ENSE00003487332 NA NA NA NA NA NA NA 0.998992547558912 TRUE NA ENSE00000895235_006 ENSE00000895235 006 19 17883225 17883394 + 41 99 30 G A 17883267 1751 43 CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCACTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT 17772415 17772585 17772457 17772458 17772458 exon 2 0.0202020202020202 CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCACTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCGCTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT mutant NA NA NA NA NA 59 31 0.995012716527447 0.994933301117245 0.994973008822346 0.821167828017257 0.888213534501764 0.952865439834678 0.965647260862923 NA NA 0.042147276692769 0.0292860402543218 0.854690681259511 0.9592563503488 NA 0.0357166584735454 NA FALSE NA 1 3.377 . downstream_gene_variant MODIFIER FCHO1 HGNC 29002 ENST00000600209 1 NA CGC G,A 3.295e-05 19:17772458 FCHO1 HGNC Symbol protein_coding 40850 ENSG00000130475 ENSE00003487332 missense_variant 3.299113 0.94259 0.76971 0.631515 0.987216997413802 0 0.998992547558912 TRUE 2.84342e-05 ENSE00000895235_010 ENSE00000895235 010 19 17883225 17883394 + 41 99 30 G A 17883295 1755 71 CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCGCTTCCAAGCCATGGAGGAGACACACCTAAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT 17772415 17772585 17772485 17772486 17772486 exon 30 0.303030303030303 CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCGCTTCCAAGCCATGGAGGAGACACACCTAAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCGCTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT mutant NA NA NA NA NA 10 12 0.95 0.95 0.95 0.821167828017257 0.888213534501764 0.952865439834678 0.965647260862923 NA NA -0.0028654398346778 -0.015647260862923 0.854690681259511 0.9592563503488 NA -0.0092563503488004 NA FALSE NA 0.939 0.335 rs144207911 downstream_gene_variant MODIFIER FCHO1 HGNC 29002 ENST00000600209 rs144207911 1 NA A:0.0005 A:0 TGA G,A 4.118e-05 19:17772486 FCHO1 HGNC Symbol protein_coding 40850 ENSG00000130475 ENSE00003487332 synonymous_variant 0.966241 0.95406 0.8673 0.67177 0.88332988438399 0 0.998992547558912 TRUE 2.03039e-05 ENSE00000895235_BRK ENSE00000895235 BRK 19 17883225 17883394 + 41 99 30 A,G; T,T NA NA NA CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCTTCGCTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGCCGAGTTGGGCAGGTGTGAGGAATGAGGCT 17772415 17772585 NA NA NA NA NA NA CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCTTCGCTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGCCGAGTTGGGCAGGTGTGAGGAATGAGGCT CCCTGACCTCCTTTCCACCTGCCTCTGCCCTCCTGCTTCAGCGCTTCCAAGCCATGGAGGAGACACACCTGAGGCACATGAAGGCACTGCTGGGCTCATATGCTCACTCGGTGGAGGACACGCACGTGCAGATTGGGCAGGTGAGTTGGGCAGGTGTGAGGAATGAGGCT control 202 37 0.124938910295385 0 0.0624694551476926 NA NA NA NA NA 0.821167828017257 0.888213534501764 0.952865439834678 0.965647260862923 -0.696228917721872 -0.888213534501764 NA NA 0.854690681259511 0.9592563503488 -0.792221226111818 NA NA NA TRUE NA NA NA NA NA FCHO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCHO1 NA NA NA ENSG00000130475 ENSE00003487332 NA NA NA NA NA NA NA 0.998992547558912 TRUE NA ENSE00000895692_000 ENSE00000895692 000 9 99106153 99106322 - 33 93 44 NA NA NA NA NA CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA 96343870 96344040 NA NA NA NA NA NA CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA natural NA NA NA NA NA 779 237 0.910440310946587 0.96142502173358 0.935932666340083 NA NA 0.910440310946587 0.96142502173358 NA NA 0 0 NA 0.935932666340083 NA 0 NA FALSE NA NA NA NA NA NA SLC35D2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC35D2 NA NA NA ENSG00000130958 ENSE00000895692 NA NA NA NA NA NA NA 9.13442164129427e-05 FALSE NA ENSE00000895692_006 ENSE00000895692 006 9 99106153 99106322 - 33 93 44 T C 99106189 997 134 CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAGCAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA 96343870 96344040 96343906 96343907 96343907 exon -4 0.967741935483871 CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAGCAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA mutant NA NA NA NA NA 1119 3770 0.952307253654153 0.820258731031928 0.886282992343041 NA NA 0.910440310946587 0.96142502173358 NA NA 0.0418669427075664 -0.141166290701652 NA 0.935932666340083 NA -0.0496496739970427 NA FALSE NA 0 -1.972 . synonymous_variant LOW SLC35D2 HGNC 20799 ENST00000253270 8/12 1 NA GTT T,C 3.295e-05 9:96343907 SLC35D2 HGNC Symbol protein_coding 63004 ENSG00000130958 ENSE00000895692 synonymous_variant -0.520736 0.11067 0.00689 0.643511 0.240020195444842 0 9.13442164129427e-05 FALSE 1.58043e-05 ENSE00000895692_014 ENSE00000895692 014 9 99106153 99106322 - 33 93 44 T C 99106248 1005 75 CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACGATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA 96343870 96344040 96343965 96343966 96343966 exon 31 0.333333333333333 CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACGATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA mutant NA NA NA NA NA 265 692 0.992314893851852 0.994833140806969 0.993574017329411 NA NA 0.910440310946587 0.96142502173358 NA NA 0.0818745829052649 0.0334081190733893 NA 0.935932666340083 NA 0.0576413509893271 NA FALSE NA 1 6.367 . missense_variant MODERATE SLC35D2 HGNC 20799 ENST00000253270 8/12 1 deleterious(0) probably_damaging(0.976) NA TTG T,C 1.647e-05 9:96343966 SLC35D2 HGNC Symbol protein_coding 63004 ENSG00000130958 ENSE00000895692 missense_variant 6.015216 0.98729 0.95441 0.75658 0.997994171838802 0 9.13442164129427e-05 FALSE 8.54613e-06 ENSE00000895692_BRK ENSE00000895692 BRK 9 99106153 99106322 - 33 93 44 A,G; T,T NA NA NA CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCTTGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGCCGAGCTGATGACAATCATTACAGTTTTCCTTA 96343870 96344040 NA NA NA NA NA NA CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCTTGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGCCGAGCTGATGACAATCATTACAGTTTTCCTTA CACGTTTCTGAAACTGAGTGGTTTTTACATTTTTGTTTTTGCAGGAGCTAGGGAAATACGGAGTACTTTTCTACAATGCCTGCTTCATGATTATCCCAACTCTTATTATTAGTGTCTCCACTGGAGACCTGCAACAGGTGAGCTGATGACAATCATTACAGTTTTCCTTA control NA NA NA NA NA 188 17 0 0 0 NA NA 0.910440310946587 0.96142502173358 NA NA -0.910440310946587 -0.96142502173358 NA 0.935932666340083 NA -0.935932666340083 NA TRUE NA NA NA NA NA NA SLC35D2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC35D2 NA NA NA ENSG00000130958 ENSE00000895692 NA NA NA NA NA NA NA 9.13442164129427e-05 FALSE NA ENSE00000896636_000 ENSE00000896636 000 1 17948308 17948477 + 51 78 41 NA NA NA NA NA CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 NA NA NA NA NA NA CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC natural 82 42 0.923038785226934 0.861062399919563 0.892050592573248 1689 3125 0.919355469004955 0.816995906112142 0.868175687558549 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 0 0 0 0 0.892050592573248 0.868175687558549 0 0 0 FALSE FALSE NA NA NA NA NA ARHGEF10L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF10L NA NA NA ENSG00000074964 ENSE00003505774 NA NA NA NA NA NA NA 0.0383062935578488 FALSE NA ENSE00000896636_006 ENSE00000896636 006 1 17948308 17948477 + 51 78 41 G A 17948332 426 25 CCCTGTGCAGCAGGTGTCATGTGCACTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621836 17621837 17621837 upstr_intron -27 -0.509803921568627 CCCTGTGCAGCAGGTGTCATGTGCACTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant NA NA NA NA NA 12 13 0.95 0.99701776878736 0.97350888439368 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 NA NA 0.0306445309950446 0.180021862675217 0.892050592573248 0.868175687558549 NA 0.105333196835131 NA FALSE NA 0 -4.952 . intron_variant MODIFIER ARHGEF10L HGNC 25540 ENST00000375415 8/26 1 NA CGC G,A 6.589e-05 1:17621837 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 intron_variant -0.848471 0.06754 0.00507 0.088506 0.759510122464876 0.0682263 0.0383062935578488 FALSE 3.65735e-05 ENSE00000896636_010 ENSE00000896636 010 1 17948308 17948477 + 51 78 41 C T 17948352 430 45 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCTGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621856 17621857 17621857 upstr_intron -7 -0.117647058823529 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCTGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant 149 207 0.85 0.786710111312191 0.818355055656095 NA NA NA NA NA 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 -0.0730387852269335 -0.0743522886073722 NA NA 0.892050592573248 0.868175687558549 -0.0736955369171529 NA NA NA FALSE 0 -2.502 . splice_region_variant&intron_variant LOW ARHGEF10L HGNC 25540 ENST00000375415 8/26 1 NA CCG C,T 2.471e-05 1:17621857 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 splice_region_variant 0.258379 0.13895 0.0104 0.106106 0.476269546174687 0.24476 0.0383062935578488 FALSE 2.84303e-05 ENSE00000896636_011 ENSE00000896636 011 1 17948308 17948477 + 51 78 41 G A 17948353 431 46 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCAAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621857 17621858 17621858 upstr_intron -6 -0.0980392156862745 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCAAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant NA NA NA NA NA 148 382 1 0.996954119677694 0.998477059838847 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 NA NA 0.0806445309950446 0.179958213565551 0.892050592573248 0.868175687558549 NA 0.130301372280298 NA FALSE NA 0.001 1.573 . splice_region_variant&intron_variant LOW ARHGEF10L HGNC 25540 ENST00000375415 8/26 1 NA CGA G,A 3.295e-05 1:17621858 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 splice_region_variant 0.415428 0.20728 0.06696 0.163922 0.316952717921167 0.261423 0.0383062935578488 FALSE 3.65503e-05 ENSE00000896636_016 ENSE00000896636 016 1 17948308 17948477 + 51 78 41 T C 17948373 436 66 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCACATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621877 17621878 17621878 exon 15 0.192307692307692 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCACATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant NA NA NA NA NA 20 2286 0.99792397139491 0.977113939760603 0.987518955577757 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 NA NA 0.0785685023899551 0.160118033648461 0.892050592573248 0.868175687558549 NA 0.119343268019208 NA FALSE NA 0.676 0.296 . synonymous_variant LOW ARHGEF10L HGNC 25540 ENST00000375415 9/27 1 NA ATA T,C 8.236e-06 1:17621878 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 synonymous_variant 0.188644 0.95486 0.06127 0.732398 0.583674805976541 0 0.0383062935578488 FALSE 4.06072e-06 ENSE00000896636_018 ENSE00000896636 018 1 17948308 17948477 + 51 78 41 G A 17948389 438 82 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCATGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621893 17621894 17621894 exon 31 0.397435897435897 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCATGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant NA NA NA NA NA 747 39 0.95873783782092 0.872333550351954 0.915535694086437 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 NA NA 0.039382368815965 0.0553376442398121 0.892050592573248 0.868175687558549 NA 0.0473600065278886 NA FALSE NA 1 1.822 rs142503205 missense_variant MODERATE ARHGEF10L HGNC 25540 ENST00000375415 9/27 rs142503205 1 probably_damaging(0.969) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGT G,A 0.0001894 1:17621894 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 missense_variant 6.409469 0.97554 0.70985 0.732398 0.999037218297939 0 0.0383062935578488 FALSE 0.000121822 ENSE00000896636_019 ENSE00000896636 019 1 17948308 17948477 + 51 78 41 C T 17948397 439 90 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGTGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621901 17621902 17621902 exon 39 0.5 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGTGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant 11 10 0.85 0.85 0.85 NA NA NA NA NA 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 -0.0730387852269336 -0.011062399919563 NA NA 0.892050592573248 0.868175687558549 -0.0420505925732483 NA NA NA FALSE 0 -1.894 rs139501792 synonymous_variant LOW ARHGEF10L HGNC 25540 ENST00000375415 9/27 rs139501792 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 GCG C,T 5.765e-05 1:17621902 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 synonymous_variant 2.578458 0.84776 0.00958 0.732398 0.86737951886145 0 0.0383062935578488 FALSE 4.06081e-05 ENSE00000896636_020 ENSE00000896636 020 1 17948308 17948477 + 51 78 41 G A 17948398 440 91 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCAAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621902 17621903 17621903 exon -39 0.512820512820513 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCAAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant NA NA NA NA NA 92 202 0.8 0.801250450660158 0.800625225330079 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 NA NA -0.119355469004955 -0.0157454554519839 0.892050592573248 0.868175687558549 NA -0.0675504622284696 NA FALSE NA 1 9.077 . missense_variant MODERATE ARHGEF10L HGNC 25540 ENST00000375415 9/27 rs371515222&COSM177747&COSM177748 1 possibly_damaging(0.82) NA A:0.0002 A:0 CGA G,A 8.236e-06 1:17621903 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 missense_variant 7.48497 0.98602 0.99506 0.732398 0.999328880351207 0 0.0383062935578488 FALSE 8.12156e-06 ENSE00000896636_022 ENSE00000896636 022 1 17948308 17948477 + 51 78 41 G T 17948410 442 103 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACTTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621914 17621915 17621915 exon -27 0.666666666666667 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACTTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant 37 33 0.85 0.85 0.85 NA NA NA NA NA 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 -0.0730387852269336 -0.011062399919563 NA NA 0.892050592573248 0.868175687558549 -0.0420505925732483 NA NA NA FALSE 1 3.769 NA NA NA ARHGEF10L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:17621915 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 missense_variant 3.163231 0.98597 0.9105 0.732398 0.993494379234278 0 0.0383062935578488 FALSE 9.74611e-05 ENSE00000896636_025 ENSE00000896636 025 1 17948308 17948477 + 51 78 41 C T 17948440 445 133 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGTGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 17621944 17621945 17621945 downstr_intron 4 1.1 CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGTGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC mutant 105 52 0.872659461359534 0.85 0.861329730679767 NA NA NA NA NA 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 -0.0503793238673997 -0.0110623999195631 NA NA 0.892050592573248 0.868175687558549 -0.0307208618934814 NA NA NA FALSE 0 -3.988 . splice_region_variant&intron_variant LOW ARHGEF10L HGNC 25540 ENST00000375415 9/26 1 NA GCG C,T 3.295e-05 1:17621945 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003505774 splice_region_variant 0.23935 0.08763 0.00785 0.088506 0.683231580170735 0.20954 0.0383062935578488 FALSE 4.06128e-05 ENSE00000896636_BRK ENSE00000896636 BRK 1 17948308 17948477 + 51 78 41 A,G; T,T NA NA NA CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCTTGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGCCGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC 17621812 17621982 NA NA NA NA NA NA CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCTTGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGCCGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC CCCTGTGCAGCAGGTGTCATGTGCGCTGACCGTGCTTTTTGGCCCGAGCAGGTGGTCCGGAGGCATATCCTGGGCTCCATCGTGCAGAGCGAAGGCAGCTACGTGGAGTCTCTGAAGCGGATACTCCAGGTGCGACTTCAGGGAGTTCTCAAGGGTCTCTGGGGAGAAGC control 32 25 0 0 0 NA NA NA NA NA 0.923038785226934 0.861062399919563 0.919355469004955 0.816995906112142 -0.923038785226934 -0.861062399919563 NA NA 0.892050592573248 0.868175687558549 -0.892050592573248 NA NA NA TRUE NA NA NA NA NA ARHGEF10L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF10L NA NA NA ENSG00000074964 ENSE00003505774 NA NA NA NA NA NA NA 0.0383062935578488 FALSE NA ENSE00000896941_000 ENSE00000896941 000 19 10229294 10229463 - 50 60 60 NA NA NA NA NA GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 NA NA NA NA NA NA GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC natural 36 32 0.997346000368666 0.987813426634912 0.992579713501789 670 1786 0.920211032352224 0.926100747925759 0.923155890138991 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 0 0 0 0 0.992579713501789 0.923155890138991 0 0 0 FALSE FALSE NA NA NA NA NA EIF3G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF3G NA NA NA ENSG00000130811 ENSE00003575962 NA NA NA NA NA NA NA 0.983422491559563 TRUE NA ENSE00000896941_002 ENSE00000896941 002 19 10229294 10229463 - 50 60 60 C T 10229310 887 154 GCACGGTTTTCCAATTTCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118633 10118634 10118634 downstr_intron 34 1.69387755102041 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGAAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 451 685 1 0.999610148317416 0.999805074158708 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0735094003916567 0.992579713501789 0.923155890138991 NA 0.0766491840197163 NA FALSE NA 0.007 1.41 . intron_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 5/5 1 NA TCC C,T 8.236e-06 19:10118634 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 intron_variant 0.195905 0.15808 0.08788 0.12189 0.671073924277964 0.0549827 0.983422491559563 TRUE 4.0618e-06 ENSE00000896941_003 ENSE00000896941 003 19 10229294 10229463 - 50 60 60 A G 10229320 888 144 GCACGGTTTTCCAATTCCTCTAGGTTGGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118643 10118644 10118644 downstr_intron 24 1.48979591836735 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCCAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 27 410 1 0.99312533317576 0.99656266658788 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0670245852500013 0.992579713501789 0.923155890138991 NA 0.0734067764488887 NA FALSE NA 0.009 1.422 . intron_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 5/5 rs370777829 1 NA G:0.0014 G:0 TAG A,G 0.000173 19:10118644 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 intron_variant 0.511274 0.42774 0.23734 0.184171 0.649045842982969 0.552995 0.983422491559563 TRUE 0.000138085 ENSE00000896941_004 ENSE00000896941 004 19 10229294 10229463 - 50 60 60 C T 10229323 889 141 GCACGGTTTTCCAATTCCTCTAGGTTAGCTCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118646 10118647 10118647 downstr_intron 21 1.42857142857143 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGAGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 659 106 1 1 1 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0738992520742411 0.992579713501789 0.923155890138991 NA 0.0768441098610085 NA FALSE NA 0 0.139 . intron_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 5/5 1 NA CCC C,T 8.236e-06 19:10118647 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 intron_variant 0.31876 0.24802 0.13069 0.184171 0.740699143460786 0.0558082 0.983422491559563 TRUE 4.06121e-06 ENSE00000896941_005 ENSE00000896941 005 19 10229294 10229463 - 50 60 60 A G 10229357 890 107 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGGCAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118680 10118681 10118681 exon -14 0.783333333333333 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGCCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 135 622 0.983023781966584 0.887867941352586 0.935445861659585 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.0628127496143602 -0.0382328065731734 0.992579713501789 0.923155890138991 NA 0.0122899715205934 NA FALSE NA 1 8.231 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 5/6 COSM1165917 1 NA GAC A,G 4.942e-05 19:10118681 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 missense_variant 3.580409 0.9728 0.96916 0.722319 0.978109093063247 0 0.983422491559563 TRUE 7.30994e-05 ENSE00000896941_006 ENSE00000896941 006 19 10229294 10229463 - 50 60 60 C T 10229371 891 93 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCTTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118694 10118695 10118695 exon -28 0.55 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAAGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 438 239 0.999811933673538 1 0.999905966836769 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.0796009013213136 0.0738992520742411 0.992579713501789 0.923155890138991 NA 0.0767500766977773 NA FALSE NA 1 2.654 rs139935811 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 5/6 rs139935811 1 NA T:0.0002 T:0 CCT C,T 8.236e-06 19:10118695 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 synonymous_variant 2.317709 0.94471 0.74407 0.722319 0.783070124353134 0 0.983422491559563 TRUE NA ENSE00000896941_007 ENSE00000896941 007 19 10229294 10229463 - 50 60 60 G T 10229376 892 88 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCTGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118699 10118700 10118700 exon 28 0.466666666666667 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCAGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 239 944 1 0.998759974491791 0.999379987245896 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0726592265660324 0.992579713501789 0.923155890138991 NA 0.0762240971069042 NA FALSE NA 1 2.129 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:10118700 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 synonymous_variant 1.742417 0.95163 0.7394 0.722319 0.855705062298114 0 0.983422491559563 TRUE 4.06141e-06 ENSE00000896941_008 ENSE00000896941 008 19 10229294 10229463 - 50 60 60 G A 10229376 893 88 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCAGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118699 10118700 10118700 exon 28 0.466666666666667 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCTGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 91 21 1 1 1 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0738992520742411 0.992579713501789 0.923155890138991 NA 0.0768441098610085 NA FALSE NA 1 2.129 NA NA NA EIF3G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF3G NA NA NA ENSG00000130811 ENSE00003575962 missense_variant 7.312762 0.95431 0.84657 0.722319 0.99913392991175 0 0.983422491559563 TRUE 8.12282e-06 ENSE00000896941_009 ENSE00000896941 009 19 10229294 10229463 - 50 60 60 T C 10229379 894 85 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGCCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118702 10118703 10118703 exon 25 0.416666666666667 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGGCCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 122 654 0.868541208846373 0.962773299628151 0.915657254237262 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA -0.051669823505851 0.0366725517023925 0.992579713501789 0.923155890138991 NA -0.00749863590172928 NA FALSE NA 1 7.086 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 5/6 1 NA GTC T,C 8.236e-06 19:10118703 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 missense_variant 2.933966 0.97135 0.95469 0.722319 0.997708692962502 0 0.983422491559563 TRUE 1.62503e-05 ENSE00000896941_010 ENSE00000896941 010 19 10229294 10229463 - 50 60 60 A C 10229383 895 81 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCCATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118706 10118707 10118707 exon 21 0.35 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATGGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 485 1023 0.996643007090016 0.996537876490347 0.996590441790181 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.0764319747377916 0.0704371285645877 0.992579713501789 0.923155890138991 NA 0.0734345516511897 NA FALSE NA 0.389 -0.15 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 5/6 1 NA CAA A,C 1.647e-05 19:10118707 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 missense_variant 2.415278 0.87086 0.46239 0.722319 0.994734352890703 0 0.983422491559563 TRUE 8.12282e-06 ENSE00000896941_011 ENSE00000896941 011 19 10229294 10229463 - 50 60 60 C T 10229386 896 78 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATTCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118709 10118710 10118710 exon 18 0.3 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGAATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 19 287 1 0.998932076914566 0.999466038457283 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0728313289888072 0.992579713501789 0.923155890138991 NA 0.0763101483182916 NA FALSE NA 0.933 -0.046 rs144272471 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 5/6 rs144272471 1 NA T:0.0002 T:0 TCC C,T 8.236e-06 19:10118710 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 synonymous_variant 2.1438 0.91593 0.51807 0.722319 0.826519225755631 0 0.983422491559563 TRUE 4.06194e-06 ENSE00000896941_012 ENSE00000896941 012 19 10229294 10229463 - 50 60 60 G C 10229397 897 67 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCCGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118720 10118721 10118721 exon 7 0.116666666666667 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCGGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 45 629 1 0.999078874805653 0.999539437402827 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0729781268798945 0.992579713501789 0.923155890138991 NA 0.0763835472638352 NA FALSE NA 1 6.773 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:10118721 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 missense_variant 6.542238 0.95918 0.9438 0.722319 0.997990038986318 0 0.983422491559563 TRUE 4.06468e-05 ENSE00000896941_013 ENSE00000896941 013 19 10229294 10229463 - 50 60 60 G A 10229397 898 67 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCAGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118720 10118721 10118721 exon 7 0.116666666666667 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCTGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 542 1226 0.849280996123054 0.986447519875566 0.91786425799931 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA -0.0709300362291699 0.0603467719498074 0.992579713501789 0.923155890138991 NA -0.00529163213968126 NA FALSE NA 1 6.773 NA NA NA EIF3G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF3G NA NA NA ENSG00000130811 ENSE00003575962 missense_variant 7.393761 0.95734 0.93185 0.722319 0.999413922251583 0 0.983422491559563 TRUE 3.25174e-05 ENSE00000896941_014 ENSE00000896941 014 19 10229294 10229463 - 50 60 60 A G 10229402 899 62 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAGTCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118725 10118726 10118726 exon 2 0.0333333333333333 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGACTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 45 611 1 0.994523725383929 0.997261862691964 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0684229774581698 0.992579713501789 0.923155890138991 NA 0.0741059725529729 NA FALSE NA 1 8.231 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW EIF3G HGNC 3274 ENST00000586151 5/6 1 NA AAT A,G 8.236e-06 19:10118726 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 missense_variant 5.826135 0.97154 0.96905 0.542737 0.996777705102983 0 0.983422491559563 TRUE 1.2197e-05 ENSE00000896941_015 ENSE00000896941 015 19 10229294 10229463 - 50 60 60 G A 10229412 900 52 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATAGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118735 10118736 10118736 upstr_intron -9 -0.133333333333333 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCTATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 1708 296 1 0.986717848785868 0.993358924392934 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0606171008601094 0.992579713501789 0.923155890138991 NA 0.0702030342539427 NA FALSE NA 0 -0.057 . intron_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 4/5 1 NA TGG G,A 1.647e-05 19:10118736 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 intron_variant 0.17852 0.18292 0.03057 0.07321 0.65685583774771 0.094877 0.983422491559563 TRUE 3.25354e-05 ENSE00000896941_016 ENSE00000896941 016 19 10229294 10229463 - 50 60 60 G C 10229421 901 43 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGACAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118744 10118745 10118745 upstr_intron -18 -0.283333333333333 GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTGTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 56 1063 1 0.999964190778242 0.999982095389121 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.079788967647776 0.0738634428524831 0.992579713501789 0.923155890138991 NA 0.0768262052501296 NA FALSE NA 0 0.281 . intron_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 4/5 rs202185401 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AGA G,C 8.237e-06 19:10118745 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 intron_variant -0.227034 0.32329 0.27152 0.07321 0.507993194640365 0.094877 0.983422491559563 TRUE 4.0711e-06 ENSE00000896941_017 ENSE00000896941 017 19 10229294 10229463 - 50 60 60 G C 10229438 902 26 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGCGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 10118761 10118762 10118762 upstr_intron -35 -0.566666666666667 GGTTGATAAAGGAGATCCCTTGGTCGCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 720 565 0.948171998170268 0.994251385244086 0.971211691707177 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.0279609658180435 0.0681506373183267 0.992579713501789 0.923155890138991 NA 0.0480558015681851 NA FALSE NA 0.132 2.132 NA NA NA EIF3G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:10118762 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 intron_variant -0.104378 0.24954 0.317 0.07321 0.407732422367702 0.0522344 0.983422491559563 TRUE 0.00045837 ENSE00000896941_020 ENSE00000896941 020 19 10229294 10229463 - 50 60 60 C G 10229452 905 12 GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCACCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATCTGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTGCTTTATCAACC 10118617 10118787 10118775 10118776 10118776 upstr_intron -49 -0.8 GGTTGATAAAGCAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC mutant NA NA NA NA NA 401 67 0.994217348287909 0.999429958010191 0.99682365314905 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 NA NA 0.0740063159356851 0.0733292100844325 0.992579713501789 0.923155890138991 NA 0.0736677630100588 NA FALSE NA 0 -0.342 . intron_variant&NMD_transcript_variant MODIFIER EIF3G HGNC 3274 ENST00000586151 4/5 1 NA TCC C,G 1.647e-05 19:10118776 EIF3G HGNC Symbol protein_coding 4901 ENSG00000130811 ENSE00003575962 intron_variant -0.101157 0.26585 0.07005 0.07321 0.607528380574747 0.0522344 0.983422491559563 TRUE 1.64734e-05 ENSE00000896941_BRK ENSE00000896941 BRK 19 10229294 10229463 - 50 60 60 A,G; T,T NA NA NA GCACGGTTTTCCAATTCCTCTAGGTTAGCCCTGGGGAAGAAGAGCCTCGGCTTCCTCCTTGCGACAGCCTTTGAAGCCTTCCGGGTCTCAATCCTGAAGGTGCGGACAATAAGAGGATGGGAGGGGAGAAGGGTCAGGCTCCTGGGACCAAGGGATCTCCTTTATCAACC 10118617 10118787 NA NA NA NA NA NA GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCTTATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGCCGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC GGTTGATAAAGGAGATCCCTTGGTCCCAGGAGCCTGACCCTTCTCCCCTCCCATCCTCAGATTGTCCGCACCTTCAGGATTGAGACCCGGAAGGCTTCAAAGGCTGTCGCAAGGAGGAAGGTGAGGCTCTTCTTCCCCAGGGCTAACCTAGAGGAATTGGAAAACCGTGC control 460 184 0 0.00353820754989734 0.00176910377494867 42 105 0.103204834305827 0.092987413218906 0.0980961237623667 0.997346000368666 0.987813426634912 0.920211032352224 0.926100747925759 -0.997346000368666 -0.984275219085015 -0.817006198046397 -0.833113334706853 0.992579713501789 0.923155890138991 -0.99081060972684 -0.825059766376625 0.165750843350216 TRUE TRUE NA NA NA NA NA EIF3G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF3G NA NA NA ENSG00000130811 ENSE00003575962 NA NA NA NA NA NA NA 0.983422491559563 TRUE NA ENSE00000897653_000 ENSE00000897653 000 19 44079029 44079198 - 33 93 44 NA NA NA NA NA GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 NA NA NA NA NA NA GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG natural 196 317 0.88350966454898 0.891015191744514 0.887262428146747 2550 1384 0.963639932171035 0.881011812593865 0.92232587238245 0.88350966454898 0.891015191744514 0.963639932171035 0.881011812593865 0 0 0 0 0.887262428146747 0.92232587238245 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003691559 NA NA NA NA NA NA NA NA NA NA ENSE00000897653_021 ENSE00000897653 021 19 44079029 44079198 - 33 93 44 G A 44079126 2602 73 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGTAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574973 43574974 43574974 exon 29 0.311827956989247 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGTAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 494 604 0.80032613553837 0.818881752673273 0.809603944105822 0.88350966454898 0.891015191744514 0.963639932171035 0.881011812593865 NA NA -0.163313796632665 -0.0621300599205912 0.887262428146747 0.92232587238245 NA -0.112721928276628 NA FALSE NA 1 5.512 NA NA NA XRCC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XRCC1 NA NA NA ENSG00000073050 ENSE00003691559 missense_variant 4.904447 0.85571 0.81064 0.627647 0.99883552230611 0 1.44713822685404e-07 FALSE 8.12466e-06 ENSE00000897653_BRK ENSE00000897653 BRK 19 44079029 44079198 - 33 93 44 A,G; T,T NA NA NA GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCTTACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGCCGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 NA NA NA NA NA NA GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCTTACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGCCGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG control NA NA NA NA NA 154 327 0 0.0109760618646375 0.00548803093231876 0.88350966454898 0.891015191744514 0.963639932171035 0.881011812593865 NA NA -0.963639932171035 -0.870035750729227 0.887262428146747 0.92232587238245 NA -0.916837841450131 NA TRUE NA NA NA NA NA NA XRCC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XRCC1 NA NA NA ENSG00000073050 ENSE00003691559 NA NA NA NA NA NA NA 1.44713822685404e-07 FALSE NA ENSE00000901180_000 ENSE00000901180 000 2 20234048 20234217 - 30 99 41 NA NA NA NA NA TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 NA NA NA NA NA NA TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC natural 236 175 0.987308091301171 0.984180571616496 0.985744331458833 4139 3876 0.972846658772385 0.842894293949222 0.907870476360803 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 0 0 0 0 0.985744331458833 0.907870476360803 0 0 0 FALSE FALSE NA NA NA NA NA LAPTM4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAPTM4A NA NA NA ENSG00000068697 ENSE00003670648 NA NA NA NA NA NA NA 0.503802410255576 FALSE NA ENSE00000901180_002 ENSE00000901180 002 2 20234048 20234217 - 30 99 41 T C 20234062 240 156 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGGTAGAGTAAAAGGTC 20034286 20034456 20034300 20034301 20034301 downstr_intron 16 1.55172413793103 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGGTAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 420 266 0.998818218615157 0.999404977134452 0.999111597874804 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0259715598427722 0.15651068318523 0.985744331458833 0.907870476360803 NA 0.0912411215140011 NA FALSE NA 0 -0.505 . intron_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/2 1 NA ATC T,C 8.236e-06 2:20034301 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 intron_variant 0.215738 0.15336 0.24105 0.295142 0.556162075327805 0.0820845 0.503802410255576 FALSE 4.06345e-06 ENSE00000901180_003 ENSE00000901180 003 2 20234048 20234217 - 30 99 41 G A 20234069 241 149 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTATTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034307 20034308 20034308 downstr_intron 9 1.31034482758621 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTATTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 1835 243 0.998714605541593 0.96528310041932 0.981998852980456 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.025867946769208 0.122388806470098 0.985744331458833 0.907870476360803 NA 0.0741283766196532 NA FALSE NA 0 0.249 . intron_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/2 1 NA AGT G,A 8.236e-06 2:20034308 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 intron_variant 1.848453 0.35807 0.33023 0.295142 0.823629430206151 0.795715 0.503802410255576 FALSE 1.21881e-05 ENSE00000901180_004 ENSE00000901180 004 2 20234048 20234217 - 30 99 41 T C 20234070 242 148 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTGCTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034308 20034309 20034309 downstr_intron 8 1.27586206896552 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTGCTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 216 118 0.994996053736566 0.997309924483578 0.996152989110072 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0221493949641819 0.154415630534356 0.985744331458833 0.907870476360803 NA 0.0882825127492689 NA FALSE NA 0 -0.714 rs191292332 splice_region_variant&intron_variant&non_coding_transcript_variant LOW LAPTM4A HGNC 6924 ENST00000483117 2/2 rs191292332 1 C:0.0006 C:0 C:0 NA C:0 C:0.003 C:0 C:0 C:0.0005 GTA T,C 0.0001894 2:20034309 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 splice_region_variant 1.078591 0.20915 0.15453 0.295142 0.67158608950293 0.338896 0.503802410255576 FALSE 0.000109688 ENSE00000901180_005 ENSE00000901180 005 2 20234048 20234217 - 30 99 41 C G 20234078 243 140 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCACGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034316 20034317 20034317 exon -1 1 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCACGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 188 337 0 0 0 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA -0.972846658772385 -0.842894293949222 0.985744331458833 0.907870476360803 NA -0.907870476360803 NA TRUE NA 1 7.487 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW LAPTM4A HGNC 6924 ENST00000483117 2/3 rs374029937 1 NA G:0 G:0.0001 CCT C,G 8.236e-06 2:20034317 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 5.623151 0.97299 0.99091 0.722319 0.997692140438394 0 0.503802410255576 FALSE 8.12374e-06 ENSE00000901180_006 ENSE00000901180 006 2 20234048 20234217 - 30 99 41 G A 20234082 244 136 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCTTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034320 20034321 20034321 exon -5 0.95959595959596 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCTTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 865 130 0.899116755748209 0.994550377579932 0.94683356666407 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA -0.0737299030241759 0.15165608363071 0.985744331458833 0.907870476360803 NA 0.0389630903032672 NA FALSE NA 1 7.648 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 rs563961467 1 NA AGG G,A 0.0001071 2:20034321 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 4.002989 0.97235 0.98165 0.722319 0.987231476664143 0 0.503802410255576 FALSE 8.12354e-05 ENSE00000901180_007 ENSE00000901180 007 2 20234048 20234217 - 30 99 41 G A 20234086 245 132 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCATCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034324 20034325 20034325 exon -9 0.919191919191919 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCATCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 247 349 0.974074254907966 0.930988704358555 0.95253147963326 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0012275961355811 0.0880944104093332 0.985744331458833 0.907870476360803 NA 0.0446610032724571 NA FALSE NA 1 7.648 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA GGT G,A 8.236e-06 2:20034325 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 2.723483 0.97235 0.98165 0.722319 0.982289108932253 0 0.503802410255576 FALSE 1.2185e-05 ENSE00000901180_008 ENSE00000901180 008 2 20234048 20234217 - 30 99 41 T A 20234087 246 131 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCTCCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034325 20034326 20034326 exon -10 0.909090909090909 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCTCCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 991 826 0.999178398060327 0.86702802419298 0.933103211126654 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0263317392879429 0.0241337302437585 0.985744331458833 0.907870476360803 NA 0.0252327347658507 NA FALSE NA 0.981 0.172 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA GTG T,A 4.118e-05 2:20034326 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 synonymous_variant 1.054837 0.90013 0.68042 0.722319 0.525125451316004 0 0.503802410255576 FALSE 4.0619e-05 ENSE00000901180_009 ENSE00000901180 009 2 20234048 20234217 - 30 99 41 A G 20234093 247 125 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTCGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034331 20034332 20034332 exon -16 0.848484848484849 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTCGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 685 34 0.989314470414601 0.995319679454877 0.992317074934739 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0164678116422169 0.152425385505655 0.985744331458833 0.907870476360803 NA 0.084446598573936 NA FALSE NA 1 2.47 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA CAA A,G 8.236e-06 2:20034332 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 synonymous_variant 0.820193 0.95247 0.9307 0.722319 0.671279394233617 0 0.503802410255576 FALSE 4.06157e-06 ENSE00000901180_010 ENSE00000901180 010 2 20234048 20234217 - 30 99 41 C A 20234098 248 120 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTTCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034336 20034337 20034337 exon -21 0.797979797979798 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTTCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 1926 311 0.972783015019516 0.985588765562267 0.979185890290891 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA -6.36437528684919e-05 0.142694471613045 0.985744331458833 0.907870476360803 NA 0.0713154139300883 NA FALSE NA 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA GCA C,A 8.236e-06 2:20034337 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 4.800856 0.96494 0.97868 0.706548 0.995344798049099 0 0.503802410255576 FALSE 4.06141e-06 ENSE00000901180_011 ENSE00000901180 011 2 20234048 20234217 - 30 99 41 G A 20234100 249 118 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCTTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034338 20034339 20034339 exon -23 0.777777777777778 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCTTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 385 384 0.852707290644318 0.999587922389622 0.92614760651697 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA -0.120139368128066 0.156693628440401 0.985744331458833 0.907870476360803 NA 0.0182771301561672 NA FALSE NA 1 9.873 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 rs534896719 1 A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 AGG G,A 8.236e-05 2:20034339 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 5.033194 0.97539 0.98523 0.706548 0.996558357789214 0 0.503802410255576 FALSE 4.06138e-05 ENSE00000901180_012 ENSE00000901180 012 2 20234048 20234217 - 30 99 41 G C 20234101 250 117 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACGCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034339 20034340 20034340 exon -24 0.767676767676768 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACGCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 750 1182 0.997560351999486 0.806446735622137 0.902003543810812 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0247136932271016 -0.0364475583270845 0.985744331458833 0.907870476360803 NA -0.00586693254999143 NA FALSE NA 1 8.068 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA GGG G,C 1.647e-05 2:20034340 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 2.599388 0.96493 0.97792 0.706548 0.908157470871411 0 0.503802410255576 FALSE 1.21844e-05 ENSE00000901180_013 ENSE00000901180 013 2 20234048 20234217 - 30 99 41 A G 20234108 251 110 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCCGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034346 20034347 20034347 exon -31 0.696969696969697 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCCGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 214 481 0.989815829365514 0.876202667418384 0.933009248391949 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0169691705931299 0.0333083734691624 0.985744331458833 0.907870476360803 NA 0.0251387720311461 NA FALSE NA 0.051 -0.653 rs149501443 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 rs149501443 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CAG A,G 2.471e-05 2:20034347 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 synonymous_variant 0.450055 0.52807 0.19975 0.706548 0.56137934472664 0 0.503802410255576 FALSE 8.12242e-06 ENSE00000901180_014 ENSE00000901180 014 2 20234048 20234217 - 30 99 41 G A 20234109 252 109 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGTTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034347 20034348 20034348 exon -32 0.686868686868687 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGTTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 838 1805 0.99316356816071 0.999824722156341 0.996494145158525 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0203169093883258 0.156930428207119 0.985744331458833 0.907870476360803 NA 0.0886236687977223 NA FALSE NA 1 8.015 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA AGC G,A 8.236e-06 2:20034348 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 5.821691 0.97539 0.97856 0.706548 0.998961044855668 0 0.503802410255576 FALSE 4.06124e-06 ENSE00000901180_015 ENSE00000901180 015 2 20234048 20234217 - 30 99 41 C T 20234117 253 101 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCAGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034355 20034356 20034356 exon -40 0.606060606060606 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCAGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 285 994 1 0.998011255637349 0.999005627818675 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0271533412276155 0.155116961688127 0.985744331458833 0.907870476360803 NA 0.0911351514578714 NA FALSE NA 0.004 -1.375 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 rs376978865 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 T:0.0002 T:0 CCG C,T 0.00014 2:20034356 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 synonymous_variant 2.333141 0.11903 0.04791 0.706548 0.499872841443149 0 0.503802410255576 FALSE 0.000101529 ENSE00000901180_016 ENSE00000901180 016 2 20234048 20234217 - 30 99 41 G A 20234118 254 100 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCTGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034356 20034357 20034357 exon -41 0.595959595959596 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCTGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 757 582 1 0.953818348793581 0.976909174396791 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0271533412276155 0.11092405484436 0.985744331458833 0.907870476360803 NA 0.0690386980359876 NA FALSE NA 1 9.873 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA CGG G,A 4.942e-05 2:20034357 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 6.168522 0.97539 0.98523 0.706548 0.998377560178665 0 0.503802410255576 FALSE 4.87349e-05 ENSE00000901180_017 ENSE00000901180 017 2 20234048 20234217 - 30 99 41 C A 20234122 255 96 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACTTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034360 20034361 20034361 exon -45 0.555555555555556 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACTTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 1404 507 0.988808403841502 0.979452578205246 0.984130491023374 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0159617450691171 0.136558284256024 0.985744331458833 0.907870476360803 NA 0.0762600146625707 NA FALSE NA 0.734 0.13 rs145912850 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 rs145912850&COSM3838285 1 A:0.0138 A:0 A:0.085 NA A:0.006 A:0.002 A:0.002 A:0.0016 A:0.0042 ACG C,A 0.016 2:20034361 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 3.085424 0.91196 0.61554 0.706548 0.802286811065446 0 0.503802410255576 FALSE 0.0211098 ENSE00000901180_019 ENSE00000901180 019 2 20234048 20234217 - 30 99 41 G T 20234123 257 95 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAAAGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034361 20034362 20034362 exon -46 0.545454545454545 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAAAGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 528 31 0.996135333546629 1 0.998067666773315 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0232886747742448 0.157105706050778 0.985744331458833 0.907870476360803 NA 0.0901971904125115 NA FALSE NA 0.745 0.326 NA NA NA LAPTM4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:20034362 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 5.376213 0.92458 0.84641 0.706548 0.988162296954729 0 0.503802410255576 FALSE 1.62443e-05 ENSE00000901180_020 ENSE00000901180 020 2 20234048 20234217 - 30 99 41 C T 20234127 258 91 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCAAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034365 20034366 20034366 exon -50 0.505050505050505 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCAAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 582 836 0.867731318472168 1 0.933865659236084 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA -0.105115340300217 0.157105706050778 0.985744331458833 0.907870476360803 NA 0.0259951828752807 NA FALSE NA 1 7.82 rs143469937 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 rs143469937&COSM1014905 1 NA T:0 T:0.0001 TCG C,T 3.295e-05 2:20034366 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 8.289301 0.97501 0.9788 0.706548 0.999548639651404 0 0.503802410255576 FALSE 4.06101e-05 ENSE00000901180_021 ENSE00000901180 021 2 20234048 20234217 - 30 99 41 T G 20234141 259 77 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAACTACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034379 20034380 20034380 exon 36 0.363636363636364 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAACTACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 911 2090 0.954642129872288 0.91101614345863 0.932829136665459 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA -0.0182045289000963 0.0681218495094079 0.985744331458833 0.907870476360803 NA 0.0249586603046558 NA FALSE NA 1 1.157 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA ATT T,G 8.236e-06 2:20034380 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 6.022695 0.93608 0.91063 0.706548 0.997826745379769 0 0.503802410255576 FALSE NA ENSE00000901180_022 ENSE00000901180 022 2 20234048 20234217 - 30 99 41 A G 20234146 260 72 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCCATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034384 20034385 20034385 exon 31 0.313131313131313 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCCATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 1010 1276 0.912093134805689 0.995742336742295 0.953917735773992 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA -0.0607535239666956 0.152848042793073 0.985744331458833 0.907870476360803 NA 0.0460472594131887 NA FALSE NA 1 9.343 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA TAG A,G 8.236e-06 2:20034385 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 6.50958 0.97381 0.98624 0.706548 0.99881982759271 0 0.503802410255576 FALSE 8.12209e-06 ENSE00000901180_023 ENSE00000901180 023 2 20234048 20234217 - 30 99 41 C T 20234160 261 58 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTATGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034398 20034399 20034399 exon 17 0.171717171717172 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTATGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 496 624 0.998412807423227 0.999938988425097 0.999175897924162 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0255661486508422 0.157044694475875 0.985744331458833 0.907870476360803 NA 0.0913054215633585 NA FALSE NA 1 6.024 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA ACA C,T 1.647e-05 2:20034399 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 missense_variant 7.499966 0.97817 0.97452 0.706548 0.997345746533754 0 0.503802410255576 FALSE NA ENSE00000901180_024 ENSE00000901180 024 2 20234048 20234217 - 30 99 41 T C 20234168 262 50 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTGATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034406 20034407 20034407 exon 9 0.0909090909090909 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTGATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 1566 763 0.9947524411756 0.996031456832117 0.995391949003859 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0219057824032156 0.153137162882895 0.985744331458833 0.907870476360803 NA 0.0875214726430555 NA FALSE NA 0.99 0.258 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 2/3 1 NA TTA T,C 1.647e-05 2:20034407 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 synonymous_variant 1.138553 0.91042 0.75247 0.706548 0.643732581081449 0 0.503802410255576 FALSE 8.12269e-06 ENSE00000901180_025 ENSE00000901180 025 2 20234048 20234217 - 30 99 41 A C 20234181 263 37 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTGCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034419 20034420 20034420 upstr_intron -5 -0.0975609756097561 TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTGCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 172 307 0.900062548430439 0.8 0.850031274215219 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA -0.0727841103419458 -0.0428942939492217 0.985744331458833 0.907870476360803 NA -0.0578392021455837 NA FALSE NA 1 4.62 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW LAPTM4A HGNC 6924 ENST00000483117 1/2 1 NA GAA A,C 8.236e-06 2:20034420 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 splice_region_variant 1.871384 0.94859 0.97703 0.295142 0.930392573627885 0.975679 0.503802410255576 FALSE 8.12407e-06 ENSE00000901180_026 ENSE00000901180 026 2 20234048 20234217 - 30 99 41 T C 20234197 264 21 TGAGTTTCTAGCAGATGTCAGCTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034435 20034436 20034436 upstr_intron -21 -0.48780487804878 TGAGTTTCTAGCAGATGTCAGCTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 666 753 0.998154125067395 0.998002398849548 0.998078261958472 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0253074662950108 0.155108104900327 0.985744331458833 0.907870476360803 NA 0.0902077855976687 NA FALSE NA 0 -0.798 . intron_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/2 rs373421159 1 NA C:0 C:0.0002 GTT T,C 0.00014 2:20034436 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 intron_variant 0.302016 0.23518 0.1157 0.099367 0.659801799016752 0.22409 0.503802410255576 FALSE 0.000138198 ENSE00000901180_027 ENSE00000901180 027 2 20234048 20234217 - 30 99 41 T C 20234198 265 20 TGAGTTTCTAGCAGATGTCGACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC 20034286 20034456 20034436 20034437 20034437 upstr_intron -22 -0.51219512195122 TGAGTTTCTAGCAGATGTCGACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC TGAGTTTCTAGCAGATGTCAACTTTGTTTTTATTCTTCCAGGCTTATCTAATTAACTGTGTTTGGAACTGCTATAAATACATCAACAACCGAAACGTGCCGGAGATTGCTGTGTACCCTGCCTTTGAAGCACCTCCTCAGGTTAGCTACTGTTGGATAGAGTAAAAGGTC mutant NA NA NA NA NA 414 1103 1 0.989643563268519 0.994821781634259 0.987308091301171 0.984180571616496 0.972846658772385 0.842894293949222 NA NA 0.0271533412276155 0.146749269319297 0.985744331458833 0.907870476360803 NA 0.0869513052734563 NA FALSE NA 0 0.684 . intron_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/2 rs377079758 1 C:0.0010 C:0 C:0.0014 NA C:0 C:0.003 C:0.001 C:0 C:0.0014 TTG T,C 0.00131 2:20034437 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00003670648 intron_variant 0.491201 0.23409 0.10719 0.099367 0.756790013692703 0.22409 0.503802410255576 FALSE 0.00136986 ENSE00000901181_000 ENSE00000901181 000 2 20234696 20234865 - 32 96 42 NA NA NA NA NA TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 NA NA NA NA NA NA TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT natural 48 50 0.999063395329126 0.996426316233101 0.997744855781113 3196 1789 0.997590862518142 0.976230500330631 0.986910681424387 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 0 0 0 0 0.997744855781113 0.986910681424387 0 0 0 FALSE FALSE NA NA NA NA NA LAPTM4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAPTM4A NA NA NA ENSG00000068697 ENSE00000901181 NA NA NA NA NA NA NA 0.503802410255576 FALSE NA ENSE00000901181_004 ENSE00000901181 004 2 20234696 20234865 - 32 96 42 C T 20234720 270 146 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTACTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20034958 20034959 20034959 downstr_intron 8 1.25806451612903 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTACTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 1022 331 0.996987438865758 0.991300624247358 0.994144031556558 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA -0.000603423652383861 0.0150701239167264 0.997744855781113 0.986910681424387 NA 0.00723335013217125 NA FALSE NA 0 -0.781 rs185228413 splice_region_variant&intron_variant&non_coding_transcript_variant LOW LAPTM4A HGNC 6924 ENST00000483117 1/2 rs185228413 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0003 GCA C,T 0.0001483 2:20034959 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 splice_region_variant 0.910489 0.21835 0.09277 0.295142 0.718965333385054 0.240407 0.503802410255576 FALSE 0.000143052 ENSE00000901181_005 ENSE00000901181 005 2 20234696 20234865 - 32 96 42 C T 20234723 271 143 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACATTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20034961 20034962 20034962 downstr_intron 5 1.16129032258065 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACATTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 42 650 0.806170232887876 0.804999976246658 0.805585104567267 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA -0.191420629630266 -0.171230524083973 0.997744855781113 0.986910681424387 NA -0.18132557685712 NA FALSE NA 0.584 0.752 rs111460754 splice_region_variant&intron_variant&non_coding_transcript_variant LOW LAPTM4A HGNC 6924 ENST00000483117 1/2 rs111460754 1 T:0.0052 T:0 T:0.0043 NA T:0.001 T:0.0109 T:0.0112 T:0.0011 T:0.0107 ACG C,T 0.01 2:20034962 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 splice_region_variant 1.212869 0.32698 0.2716 0.295142 0.60248766303838 0.292829 0.503802410255576 FALSE 0.0104859 ENSE00000901181_006 ENSE00000901181 006 2 20234696 20234865 - 32 96 42 G A 20234724 272 142 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTATGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20034962 20034963 20034963 downstr_intron 4 1.12903225806452 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTATGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 432 12 1 0.986586818265123 0.993293409132562 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA 0.00240913748185811 0.0103563179344918 0.997744855781113 0.986910681424387 NA 0.00638272770817494 NA FALSE NA 0.969 1.527 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW LAPTM4A HGNC 6924 ENST00000483117 1/2 1 NA CGT G,A 4.943e-05 2:20034963 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 splice_region_variant 0.956567 0.27062 0.67811 0.295142 0.644951514232637 0.313469 0.503802410255576 FALSE 2.5057e-05 ENSE00000901181_007 ENSE00000901181 007 2 20234696 20234865 - 32 96 42 A C 20234735 273 131 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCAGTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20034973 20034974 20034974 exon -8 0.927083333333333 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCAGTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 249 115 0.995663615247754 1 0.997831807623877 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA -0.00192724727038762 0.0237694996693687 0.997744855781113 0.986910681424387 NA 0.0109211261994905 NA FALSE NA 1 7.14 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/3 1 NA AAT A,C 1.647e-05 2:20034974 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 missense_variant 3.692926 0.97521 0.99031 0.706548 0.990769032352034 0 0.503802410255576 FALSE 2.06204e-05 ENSE00000901181_008 ENSE00000901181 008 2 20234696 20234865 - 32 96 42 T C 20234736 274 130 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCGTTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20034974 20034975 20034975 exon -9 0.916666666666667 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCGTTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 486 193 0.99331104802022 0.999179672406881 0.99624536021355 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA -0.00427981449792236 0.0229491720762497 0.997744855781113 0.986910681424387 NA 0.00933467878916366 NA FALSE NA 1 1.624 rs142563595 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/3 rs142563595&COSM1014910 1 NA C:0.0002 C:0 ATG T,C 4.118e-05 2:20034975 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 missense_variant 0.866319 0.90683 0.88583 0.706548 0.86731674625327 0 0.503802410255576 FALSE 3.70862e-05 ENSE00000901181_009 ENSE00000901181 009 2 20234696 20234865 - 32 96 42 T C 20234739 275 127 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCGTCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20034977 20034978 20034978 exon -12 0.885416666666667 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCGTCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 669 534 0.996449740460327 1 0.998224870230163 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA -0.00114112205781514 0.0237694996693687 0.997744855781113 0.986910681424387 NA 0.0113141888057768 NA FALSE NA 1 4.801 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/3 rs371183381 1 NA C:0 C:0.0001 ATG T,C 8.237e-06 2:20034978 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 missense_variant 2.854738 0.95845 0.98057 0.706548 0.995086102330475 0 0.503802410255576 FALSE 1.64605e-05 ENSE00000901181_014 ENSE00000901181 014 2 20234696 20234865 - 32 96 42 C A 20234780 280 86 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCATCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20035018 20035019 20035019 exon 44 0.458333333333333 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCATCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 249 93 0.991786704696368 0.998295610662204 0.995041157679286 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA -0.00580415782177368 0.0220651103315724 0.997744855781113 0.986910681424387 NA 0.00813047625489938 NA FALSE NA 1 5.751 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/3 1 NA GCT C,A 8.237e-06 2:20035019 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 missense_variant 6.486611 0.97455 0.98362 0.706548 0.996046584784598 0 0.503802410255576 FALSE 4.08513e-06 ENSE00000901181_016 ENSE00000901181 016 2 20234696 20234865 - 32 96 42 G A 20234796 282 70 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCTTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20035034 20035035 20035035 exon 28 0.291666666666667 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCTTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 951 432 0.999956718288087 1 0.999978359144043 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA 0.00236585576994497 0.0237694996693687 0.997744855781113 0.986910681424387 NA 0.0130676777196568 NA FALSE NA 1 3.302 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/3 1 NA AGG G,A 3.295e-05 2:20035035 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 synonymous_variant 1.08663 0.9524 0.95428 0.706548 0.868598105301381 0 0.503802410255576 FALSE 4.90541e-05 ENSE00000901181_017 ENSE00000901181 017 2 20234696 20234865 - 32 96 42 G A 20234799 283 67 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACTTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20035037 20035038 20035038 exon 25 0.260416666666667 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACTTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 278 23 1 1 1 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA 0.00240913748185811 0.0237694996693687 0.997744855781113 0.986910681424387 NA 0.0130893185756134 NA FALSE NA 1 6.16 NA NA NA LAPTM4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:20035038 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 missense_variant 6.366427 0.96059 0.97873 0.706548 0.999147915210684 0 0.503802410255576 FALSE 8.18471e-06 ENSE00000901181_021 ENSE00000901181 021 2 20234696 20234865 - 32 96 42 G T 20234832 287 34 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTATTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20035070 20035071 20035071 upstr_intron -9 -0.19047619047619 TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTATTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 1187 92 1 1 1 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA 0.00240913748185811 0.0237694996693687 0.997744855781113 0.986910681424387 NA 0.0130893185756134 NA FALSE NA 0 0.968 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/3 1 NA AGA G,T 8.238e-06 2:20035071 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 non_coding_transcript_exon_variant 1.382552 0.29551 0.7441 0.225121 0.892375852100877 0.392038 0.503802410255576 FALSE NA ENSE00000901181_023 ENSE00000901181 023 2 20234696 20234865 - 32 96 42 A G 20234839 289 27 TGCGATGGCTGACTTGTAAATGTGTGCGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT 20034934 20035104 20035077 20035078 20035078 upstr_intron -16 -0.357142857142857 TGCGATGGCTGACTTGTAAATGTGTGCGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT TGCGATGGCTGACTTGTAAATGTGTGTGTGTTTCTTTAATAGCCTGATTTTCCCTACAAAGATGACCTCCTGGCCTTGGACTCCAGCTGCCTCCTGTTCATTGTTCTTGTGTTCTTTGCCTTATTCATCATTTTTAAGGTACGTTGCTGACTAAATCTTTAGGGGTGACT mutant NA NA NA NA NA 493 224 0.991146152371422 1 0.995573076185711 0.999063395329126 0.996426316233101 0.997590862518142 0.976230500330631 NA NA -0.00644471014671943 0.0237694996693687 0.997744855781113 0.986910681424387 NA 0.00866239476132463 NA FALSE NA 0.266 3.844 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAPTM4A HGNC 6924 ENST00000483117 1/3 1 NA CAC A,G 8.239e-06 2:20035078 LAPTM4A HGNC Symbol protein_coding 19378 ENSG00000068697 ENSE00000901181 non_coding_transcript_exon_variant 1.79617 0.42424 0.39056 0.225121 0.909781842889393 0.320275 0.503802410255576 FALSE 4.22066e-06 ENSE00000901646_000 ENSE00000901646 000 16 48212473 48212642 - 35 90 45 NA NA NA NA NA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 NA NA NA NA NA NA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA natural 398 388 0.85 0.847138351133216 0.848569175566608 211 1645 0.68073208917254 0.8 0.74036604458627 0.85 0.847138351133216 0.68073208917254 0.8 0 0 0 0 0.848569175566608 0.74036604458627 0 0 0 FALSE FALSE NA NA NA NA NA ABCC11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC11 NA NA NA ENSG00000121270 ENSE00003516711 NA NA NA NA NA NA NA 5.69831059947564e-25 FALSE NA ENSE00000901646_005 ENSE00000901646 005 16 48212473 48212642 - 35 90 45 T G 48212528 1622 115 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGCGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178616 48178617 48178617 exon -21 0.777777777777778 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGCGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 56 135 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 0 0.00286164886678442 NA NA 0.848569175566608 0.74036604458627 0.00143082443339221 NA NA NA FALSE 1 1.533 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 4/11 1 NA CTC T,G 1.647e-05 16:48178617 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 synonymous_variant -0.462886 0.97023 0.82897 0.487112 0.446453648649673 0 5.69831059947564e-25 FALSE 1.21882e-05 ENSE00000901646_010 ENSE00000901646 010 16 48212473 48212642 - 35 90 45 G A 48212536 1627 107 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGTTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178624 48178625 48178625 exon -29 0.688888888888889 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGTTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 295 281 0 0.00231581086082061 0.0011579054304103 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 -0.85 -0.844822540272395 NA NA 0.848569175566608 0.74036604458627 -0.847411270136198 NA NA NA TRUE 0.447 2.953 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 4/11 1 NA AGC G,A 1.647e-05 16:48178625 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 missense_variant 3.245182 0.18765 0.18974 0.487112 0.997503701939794 0 5.69831059947564e-25 FALSE 8.12328e-06 ENSE00000901646_011 ENSE00000901646 011 16 48212473 48212642 - 35 90 45 G A 48212539 1628 104 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCATGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178627 48178628 48178628 exon -32 0.655555555555556 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCATGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 127 205 0 0.00317534094410537 0.00158767047205269 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 -0.85 -0.84396301018911 NA NA 0.848569175566608 0.74036604458627 -0.846981505094555 NA NA NA TRUE 0.992 1.814 rs139677111 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 4/11 rs139677111 1 NA A:0.0005 A:0 CGT G,A 1.647e-05 16:48178628 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 missense_variant 1.271829 0.45986 0.4238 0.487112 0.923848084329879 0 5.69831059947564e-25 FALSE 2.03092e-05 ENSE00000901646_015 ENSE00000901646 015 16 48212473 48212642 - 35 90 45 C T 48212568 1632 75 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGAATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178656 48178657 48178657 exon 30 0.333333333333333 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGAATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 80 11 0.0484296503020399 0 0.0242148251510199 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 -0.80157034969796 -0.847138351133216 NA NA 0.848569175566608 0.74036604458627 -0.824354350415588 NA NA NA TRUE 0.001 0.007 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 4/11 COSM703657 1 NA TCC C,T 8.236e-06 16:48178657 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 synonymous_variant 0.310691 0.1762 0.02954 0.487112 0.409948060755082 0 5.69831059947564e-25 FALSE 4.06171e-06 ENSE00000901646_017 ENSE00000901646 017 16 48212473 48212642 - 35 90 45 G A 48212570 1634 73 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCTGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178658 48178659 48178659 exon 28 0.311111111111111 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCTGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 88 27 0 0 0 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 -0.85 -0.847138351133216 NA NA 0.848569175566608 0.74036604458627 -0.848569175566608 NA NA NA TRUE 0.976 0.902 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 4/11 COSM3782957 1 NA CGG G,A 3.295e-05 16:48178659 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 missense_variant 4.851615 0.20276 0.3859 0.487112 0.997804320910162 0 5.69831059947564e-25 FALSE 2.84342e-05 ENSE00000901646_018 ENSE00000901646 018 16 48212473 48212642 - 35 90 45 G A 48212572 1635 71 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGTCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178660 48178661 48178661 exon 26 0.288888888888889 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGTCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 52 152 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 0 0.00286164886678442 NA NA 0.848569175566608 0.74036604458627 0.00143082443339221 NA NA NA FALSE 0.921 1.69 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 4/11 rs547058756 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 GGC G,A 0.0001318 16:48178661 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 missense_variant -1.486964 0.15928 0.10928 0.487112 0.188841309012164 0 5.69831059947564e-25 FALSE 7.71812e-05 ENSE00000901646_023 ENSE00000901646 023 16 48212473 48212642 - 35 90 45 G A 48212593 1640 50 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGTGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178681 48178682 48178682 exon 5 0.0555555555555556 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGTGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 424 93 0.00310476320105405 0.0140538062807249 0.00857928474088946 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 -0.846895236798946 -0.833084544852491 NA NA 0.848569175566608 0.74036604458627 -0.839989890825718 NA NA NA TRUE 1 2.088 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 4/11 rs376835882&TMP_ESP_16_48212593_48212593 1 NA & & A:0&-:0 A:0.0001&-:0.0001 CGC G,A 3.295e-05 16:48178682 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 missense_variant 3.630275 0.97152 0.79702 0.487112 0.995797452236083 0 5.69831059947564e-25 FALSE 3.65779e-05 ENSE00000901646_025 ENSE00000901646 025 16 48212473 48212642 - 35 90 45 C T 48212598 1642 45 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAACTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178686 48178687 48178687 upstr_intron -1 0 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAACTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 139 202 0 0 0 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 -0.85 -0.847138351133216 NA NA 0.848569175566608 0.74036604458627 -0.848569175566608 NA NA NA TRUE 1 1.625 NA NA NA ABCC11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:48178687 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 splice_acceptor_variant 3.65615 0.98388 0.88027 0.053691 0.992303106712431 0.763077 5.69831059947564e-25 FALSE 1.21941e-05 ENSE00000901646_027 ENSE00000901646 027 16 48212473 48212642 - 35 90 45 G A 48212608 1644 35 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCTTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178696 48178697 48178697 upstr_intron -11 -0.222222222222222 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCTTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 285 327 0.846143896988765 0.85 0.848071948494383 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 -0.00385610301123462 0.00286164886678442 NA NA 0.848569175566608 0.74036604458627 -0.000497227072225104 NA NA NA FALSE 0 -0.525 . intron_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 3/10 1 NA AGG G,A 8.237e-06 16:48178697 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 intron_variant 0.802458 0.19566 0.04609 0.053691 0.679342950133272 0.0927127 5.69831059947564e-25 FALSE 4.06884e-06 ENSE00000901646_028 ENSE00000901646 028 16 48212473 48212642 - 35 90 45 G A 48212609 1645 34 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTTCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178697 48178698 48178698 upstr_intron -12 -0.244444444444444 CACCCCAGCAGCCTCTTGACCCCCGATACTTCTTCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 38 58 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 0 0.00286164886678442 NA NA 0.848569175566608 0.74036604458627 0.00143082443339221 NA NA NA FALSE 0 -0.603 . intron_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 3/10 1 NA GGA G,A 8.237e-06 16:48178698 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 intron_variant 0.639818 0.1431 0.0064 0.053691 0.65219758134182 0.0927127 5.69831059947564e-25 FALSE 4.06961e-06 ENSE00000901646_032 ENSE00000901646 032 16 48212473 48212642 - 35 90 45 G A 48212619 1649 24 CACCCCAGCAGCCTCTTGACCCCTGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178707 48178708 48178708 upstr_intron -22 -0.466666666666667 CACCCCAGCAGCCTCTTGACCCCTGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 18 38 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 0 0.00286164886678442 NA NA 0.848569175566608 0.74036604458627 0.00143082443339221 NA NA NA FALSE 0.01 1.101 . intron_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 3/10 rs200432924 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGG G,A 4.118e-05 16:48178708 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 intron_variant 0.160144 0.18143 0.01198 0.053691 0.737845175145637 0.0782381 5.69831059947564e-25 FALSE 3.67323e-05 ENSE00000901646_033 ENSE00000901646 033 16 48212473 48212642 - 35 90 45 A C 48212626 1650 17 CACCCCAGCAGCCTCTGGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA 48178561 48178731 48178714 48178715 48178715 upstr_intron -29 -0.622222222222222 CACCCCAGCAGCCTCTGGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA CACCCCAGCAGCCTCTTGACCCCCGATACTTCTCCTTCCTTCTAGCTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAGACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAGGTGGGGTTCAGGTCTGGGTCTGGTGTGGGGAGCCA mutant 27 331 0.0478437053723808 0 0.0239218526861904 NA NA NA NA NA 0.85 0.847138351133216 0.68073208917254 0.8 -0.802156294627619 -0.847138351133216 NA NA 0.848569175566608 0.74036604458627 -0.824647322880417 NA NA NA TRUE 0 -0.964 . intron_variant&non_coding_transcript_variant MODIFIER ABCC11 HGNC 14639 ENST00000565329 3/10 1 NA CAA A,C 8.237e-06 16:48178715 ABCC11 HGNC Symbol protein_coding 80658 ENSG00000121270 ENSE00003516711 intron_variant 0.026074 0.1373 0.01475 0.053691 0.701268347833895 0.100163 5.69831059947564e-25 FALSE 8.17936e-06 ENSE00000902497_000 ENSE00000902497 000 14 65245840 65246009 - 35 90 45 NA NA NA NA NA GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 NA NA NA NA NA NA GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC natural NA NA NA NA NA 944 2148 0.574046417638046 0.721992491419423 0.648019454528735 NA NA 0.574046417638046 0.721992491419423 NA NA 0 0 NA 0.648019454528735 NA 0 NA FALSE NA NA NA NA NA NA SPTB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTB NA NA NA ENSG00000070182 ENSE00000902497 NA NA NA NA NA NA NA 0.999999747900015 TRUE NA ENSE00000902497_001 ENSE00000902497 001 14 65245840 65246009 - 35 90 45 G A 65245859 679 151 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCATCTCACCAGCCCCACCCACC 64779121 64779291 64779140 64779141 64779141 downstr_intron 16 1.47058823529412 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCATCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 27 27 0 0.179509588293783 0.0897547941468914 NA NA NA NA NA NA NA 0.574046417638046 0.721992491419423 NA NA NA NA NA 0.648019454528735 NA NA NA NA NA 0 0.452 . intron_variant MODIFIER SPTB HGNC 11274 ENST00000389721 21/30 1 NA GGT G,A 8.238e-06 14:64779141 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 intron_variant 0.694264 0.22362 0.08591 0.078448 0.611812444739825 0.0505976 0.999999747900015 TRUE 1.23168e-05 ENSE00000902497_002 ENSE00000902497 002 14 65245840 65246009 - 35 90 45 C G 65245863 680 147 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCCTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779144 64779145 64779145 downstr_intron 12 1.35294117647059 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCCTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 210 99 0 0 0 106 308 0.0431594004368962 0.0010400097727663 0.0220997051048312 NA NA 0.574046417638046 0.721992491419423 NA NA -0.53088701720115 -0.720952481646657 NA 0.648019454528735 NA -0.625919749423903 NA TRUE NA 0 -0.469 NA NA NA SPTB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64779145 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 intron_variant 0.935697 0.11217 0.00111 0.078448 0.652597622406641 0.100321 0.999999747900015 TRUE 0.26622 ENSE00000902497_004 ENSE00000902497 004 14 65245840 65246009 - 35 90 45 G A 65245864 682 146 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGTGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779145 64779146 64779146 downstr_intron 11 1.32352941176471 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGTGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 35 61 0 0 0 NA NA NA NA NA NA NA 0.574046417638046 0.721992491419423 NA NA NA NA NA 0.648019454528735 NA NA NA NA NA 0 -0.396 . intron_variant MODIFIER SPTB HGNC 11274 ENST00000389721 21/30 rs368290807 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 CGC G,A 9.885e-05 14:64779146 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 intron_variant 1.294299 0.18842 0.01999 0.078448 0.694047938149284 0.223507 0.999999747900015 TRUE 0.000134995 ENSE00000902497_006 ENSE00000902497 006 14 65245840 65246009 - 35 90 45 C T 65245887 684 123 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATAAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779168 64779169 64779169 exon -13 0.866666666666667 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATAAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant NA NA NA NA NA 87 268 0.00565502260976385 0.0260519678207475 0.0158534952152557 NA NA 0.574046417638046 0.721992491419423 NA NA -0.568391395028282 -0.695940523598676 NA 0.648019454528735 NA -0.632165959313479 NA TRUE NA 0.735 -0.257 . missense_variant MODERATE SPTB HGNC 11274 ENST00000389721 21/31 1 tolerated(0.96) benign(0.005) NA TCA C,T 1.647e-05 14:64779169 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 missense_variant 1.719895 0.97174 0.56999 0.615465 0.803895249262503 0 0.999999747900015 TRUE 8.13127e-06 ENSE00000902497_007 ENSE00000902497 007 14 65245840 65246009 - 35 90 45 A C 65245888 685 122 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCAGGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779169 64779170 64779170 exon -14 0.855555555555556 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCAGGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant NA NA NA NA NA 295 808 0.614394143828612 0.8 0.707197071914306 NA NA 0.574046417638046 0.721992491419423 NA NA 0.0403477261905659 0.0780075085805767 NA 0.648019454528735 NA 0.0591776173855713 NA FALSE NA 1 3.158 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64779170 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 missense_variant 2.075324 0.98525 0.97118 0.615465 0.880145774288188 0 0.999999747900015 TRUE 0.000146337 ENSE00000902497_008 ENSE00000902497 008 14 65245840 65246009 - 35 90 45 A G 65245888 686 122 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCACGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779169 64779170 64779170 exon -14 0.855555555555556 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCACGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 17 15 0.85 0.85 0.85 884 684 0.797589606160257 0.806342896410456 0.801966251285356 NA NA 0.574046417638046 0.721992491419423 NA NA 0.223543188522211 0.0843504049910327 NA 0.648019454528735 NA 0.153946796756622 NA FALSE NA 1 3.158 NA NA NA SPTB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTB NA NA NA ENSG00000070182 ENSE00000902497 missense_variant 2.110274 0.98465 0.92688 0.615465 0.928350403076401 0 0.999999747900015 TRUE 8.12982e-06 ENSE00000902497_010 ENSE00000902497 010 14 65245840 65246009 - 35 90 45 C T 65245899 688 111 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTACAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779180 64779181 64779181 exon -25 0.733333333333333 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTACAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 35 17 0 0 0 94 49 0.625355152614588 0.8 0.712677576307294 NA NA 0.574046417638046 0.721992491419423 NA NA 0.0513087349765418 0.0780075085805767 NA 0.648019454528735 NA 0.0646581217785592 NA FALSE NA 0.979 0.154 . synonymous_variant LOW SPTB HGNC 11274 ENST00000389721 21/31 1 NA GCA C,T 8.237e-06 14:64779181 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 synonymous_variant 1.81892 0.96941 0.85824 0.615465 0.718242179263779 0 0.999999747900015 TRUE 1.21912e-05 ENSE00000902497_011 ENSE00000902497 011 14 65245840 65246009 - 35 90 45 T C 65245904 689 106 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAGCTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779185 64779186 64779186 exon -30 0.677777777777778 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAGCTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 15 27 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.574046417638046 0.721992491419423 NA NA NA NA NA 0.648019454528735 NA NA NA NA NA 1 3.413 . missense_variant MODERATE SPTB HGNC 11274 ENST00000389721 21/31 1 tolerated(0.58) benign(0.026) NA GTT T,C 8.236e-06 14:64779186 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 missense_variant 0.834323 0.98448 0.9703 0.615465 0.812774604473574 0 0.999999747900015 TRUE 4.06329e-06 ENSE00000902497_015 ENSE00000902497 015 14 65245840 65246009 - 35 90 45 G C 65245926 693 84 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCGGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779207 64779208 64779208 exon 39 0.433333333333333 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCGGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant NA NA NA NA NA 992 202 0.935170109545505 0.845432373264603 0.890301241405054 NA NA 0.574046417638046 0.721992491419423 NA NA 0.36112369190746 0.123439881845179 NA 0.648019454528735 NA 0.242281786876319 NA FALSE NA 0 -2.479 NA NA NA SPTB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64779208 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 synonymous_variant 1.195184 0.17231 0.06228 0.615465 0.474684249616342 0 0.999999747900015 TRUE 4.06504e-06 ENSE00000902497_016 ENSE00000902497 016 14 65245840 65246009 - 35 90 45 G A 65245927 694 83 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGTCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779208 64779209 64779209 exon 38 0.422222222222222 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGTCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 13 20 0.85 0.85 0.85 586 40 0.807828409119023 0.8170865565573 0.812457482838162 NA NA 0.574046417638046 0.721992491419423 NA NA 0.233781991480978 0.0950940651378765 NA 0.648019454528735 NA 0.164438028309427 NA FALSE NA 0.015 1.349 . missense_variant MODERATE SPTB HGNC 11274 ENST00000389721 21/31 rs200876438 1 tolerated(0.08) benign(0.003) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGC G,A 0.0009719 14:64779209 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 missense_variant 2.013564 0.29307 0.23389 0.615465 0.989826578201224 0 0.999999747900015 TRUE 0.00115873 ENSE00000902497_020 ENSE00000902497 020 14 65245840 65246009 - 35 90 45 A G 65245962 698 48 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTCTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779243 64779244 64779244 exon 3 0.0333333333333333 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTCTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 52 36 0 0 0 105 157 0 0.00204411369839531 0.00102205684919766 NA NA 0.574046417638046 0.721992491419423 NA NA -0.574046417638046 -0.719948377721028 NA 0.648019454528735 NA -0.646997397679537 NA TRUE NA 0.923 0.019 rs1741487 splice_region_variant&synonymous_variant LOW SPTB HGNC 11274 ENST00000389721 21/31 rs1741487&COSM1748932&COSM1748933 1 G:0.4119 G:0.7012 G:0.1657 NA G:0.3532 G:0.2445 G:0.4284 G:0.6042 G:0.2378 AAA G,G 0.279 14:64779244 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 splice_region_variant 1.348174 0.95169 0.22421 0.615465 0.747750172609846 0 0.999999747900015 TRUE 0.265754 ENSE00000902497_021 ENSE00000902497 021 14 65245840 65246009 - 35 90 45 G C 65245964 699 46 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGGTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779245 64779246 64779246 exon 1 0.0111111111111111 GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGGTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant NA NA NA NA NA 102 1254 1 0.999873861266402 0.999936930633201 NA NA 0.574046417638046 0.721992491419423 NA NA 0.425953582361954 0.277881369846979 NA 0.648019454528735 NA 0.351917476104467 NA FALSE NA 1 4.863 . missense_variant&splice_region_variant MODERATE SPTB HGNC 11274 ENST00000389721 21/31 1 tolerated(0.07) benign(0.044) NA AGC G,C 8.237e-06 14:64779246 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 missense_variant 4.46655 0.99473 0.9866 0.615465 0.991964026264498 0 0.999999747900015 TRUE 4.08417e-06 ENSE00000902497_022 ENSE00000902497 022 14 65245840 65246009 - 35 90 45 G A 65245981 700 29 GGCCGTGATTGTCATCAGCTCTCTCCTGTCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779262 64779263 64779263 upstr_intron -17 -0.355555555555556 GGCCGTGATTGTCATCAGCTCTCTCCTGTCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant NA NA NA NA NA 19 716 1 0.999504629275925 0.999752314637962 NA NA 0.574046417638046 0.721992491419423 NA NA 0.425953582361954 0.277512137856501 NA 0.648019454528735 NA 0.351732860109228 NA FALSE NA 0 0.195 rs192115079 intron_variant MODIFIER SPTB HGNC 11274 ENST00000389721 20/30 rs192115079 1 A:0.0060 A:0 A:0 NA A:0.0288 A:0 A:0.001 A:0.0011 A:0 GGC G,A 0.000972 14:64779263 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 intron_variant 0.381795 0.28416 0.06785 0.053691 0.710888651163155 0.0510595 0.999999747900015 TRUE 0.00101364 ENSE00000902497_023 ENSE00000902497 023 14 65245840 65246009 - 35 90 45 G A 65245985 701 25 GGCCGTGATTGTCATCAGCTCTCTTCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779266 64779267 64779267 upstr_intron -21 -0.444444444444444 GGCCGTGATTGTCATCAGCTCTCTTCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant NA NA NA NA NA 1471 78 0.988574440496802 0.989654262308565 0.989114351402683 NA NA 0.574046417638046 0.721992491419423 NA NA 0.414528022858756 0.267661770889142 NA 0.648019454528735 NA 0.341094896873949 NA FALSE NA 0.001 0.054 . intron_variant MODIFIER SPTB HGNC 11274 ENST00000389721 20/30 1 NA GGA G,A 8.238e-06 14:64779267 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 intron_variant 0.455695 0.23849 0.04853 0.053691 0.696680870102337 0.0866327 0.999999747900015 TRUE 1.24724e-05 ENSE00000902497_024 ENSE00000902497 024 14 65245840 65246009 - 35 90 45 G A 65245989 702 21 GGCCGTGATTGTCATCAGCTTTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779270 64779271 64779271 upstr_intron -25 -0.533333333333333 GGCCGTGATTGTCATCAGCTTTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 13 71 0.94099551743358 0.85 0.89549775871679 21 362 0.8 0.809487846044232 0.804743923022116 NA NA 0.574046417638046 0.721992491419423 NA NA 0.225953582361954 0.0874953546248087 NA 0.648019454528735 NA 0.156724468493382 NA FALSE NA 0 -1.183 . intron_variant MODIFIER SPTB HGNC 11274 ENST00000389721 20/30 rs372951561 1 NA A:0 A:0.0002 AGA G,A 3.295e-05 14:64779271 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 intron_variant 0.204529 0.14719 0.01373 0.053691 0.692384897538935 0.0873113 0.999999747900015 TRUE 1.67149e-05 ENSE00000902497_025 ENSE00000902497 025 14 65245840 65246009 - 35 90 45 A G 65245998 703 12 GGCCGTGATTGCCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 64779279 64779280 64779280 upstr_intron -34 -0.733333333333333 GGCCGTGATTGCCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC mutant 203 66 0.0935900735789365 0.0501505233153324 0.0718702984471344 65 116 0.13621807570588 0.00316696549825611 0.0696925206020679 NA NA 0.574046417638046 0.721992491419423 NA NA -0.437828341932166 -0.718825525921167 NA 0.648019454528735 NA -0.578326933926667 NA TRUE NA 0.011 2.489 . intron_variant MODIFIER SPTB HGNC 11274 ENST00000389721 20/30 1 NA GAC A,G 8.24e-06 14:64779280 SPTB HGNC Symbol protein_coding 133624 ENSG00000070182 ENSE00000902497 intron_variant 0.641787 0.19297 0.03244 0.053691 0.704804037806389 0.11083 0.999999747900015 TRUE 1.2838e-05 ENSE00000902497_BRK ENSE00000902497 BRK 14 65245840 65246009 - 35 90 45 A,G; T,T NA NA NA GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCTTCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGCCGAGTCCTGCGTCACCTCACCAGCCCCACCCACC 64779121 64779291 NA NA NA NA NA NA GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCTTCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGCCGAGTCCTGCGTCACCTCACCAGCCCCACCCACC GGCCGTGATTGTCATCAGCTCTCTCCTGCCTCCTGGTCTCTGCAGCTTTGGGTGGAGGAGAGGCTGCCTCTGGCCCAGTCAGCCGACTATGGCACTAATCTGCAAACTGTGCAACTGTTCATGAAGAAGAACCAGGTGAGTCCTGCGTCACCTCACCAGCCCCACCCACC control 292 105 0 0 0 90 638 0 0 0 NA NA 0.574046417638046 0.721992491419423 NA NA -0.574046417638046 -0.721992491419423 NA 0.648019454528735 NA -0.648019454528735 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTB NA NA NA ENSG00000070182 ENSE00000902497 NA NA NA NA NA NA NA 0.999999747900015 TRUE NA ENSE00000903568_000 ENSE00000903568 000 11 4410852 4411021 - 32 96 42 NA NA NA NA NA GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 NA NA NA NA NA NA CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC natural NA NA NA NA NA 519 755 0.997515650541587 0.999949577889714 0.998732614215651 NA NA 0.997515650541587 0.999949577889714 NA NA 0 0 NA 0.998732614215651 NA 0 NA FALSE NA NA NA NA NA NA TRIM21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM21 NA NA NA ENSG00000132109 ENSE00000903568 NA NA NA NA NA NA NA 0.0930518154823646 FALSE NA ENSE00000903568_001 ENSE00000903568 001 11 4410852 4411021 - 32 96 42 A G 4410868 190 154 GCCTAAGATCTCCTTCGGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389637 4389638 4389638 downstr_intron 16 1.51612903225806 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCCGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 800 113 0.999232915733029 1 0.999616457866515 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00171726519144233 5.04221102858304e-05 NA 0.998732614215651 NA 0.00088384365086408 NA FALSE NA 0 -0.814 . intron_variant MODIFIER TRIM21 HGNC 11312 ENST00000254436 3/6 rs551597214 1 G:0.0012 G:0 G:0 NA G:0 G:0 G:0.0061 CAG A,G 0.000852 11:4389638 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 intron_variant -0.030051 0.1578 0.01771 0.295142 0.526879612869591 0.0513667 0.0930518154823646 FALSE 0.0007719 ENSE00000903568_004 ENSE00000903568 004 11 4410852 4411021 - 32 96 42 T A 4410881 193 141 GCCTAAGATCTCCTTCAGGATGTCATTCTAACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389650 4389651 4389651 downstr_intron 3 1.09677419354839 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTTAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 217 233 0.8 1 0.9 NA NA 0.997515650541587 0.999949577889714 NA NA -0.197515650541587 5.04221102858304e-05 NA 0.998732614215651 NA -0.0987326142156505 NA FALSE NA 0.997 2.05 . splice_region_variant&intron_variant LOW TRIM21 HGNC 11312 ENST00000254436 3/6 1 NA TTA T,A 8.271e-06 11:4389651 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 splice_region_variant 1.405628 0.96767 0.897 0.295142 0.790239414544265 0.729177 0.0930518154823646 FALSE 4.0618e-06 ENSE00000903568_006 ENSE00000903568 006 11 4410852 4411021 - 32 96 42 T C 4410886 195 136 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTCCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389655 4389656 4389656 exon -3 0.979166666666667 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGGAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 26 49 1 1 1 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00248434945841303 5.04221102858304e-05 NA 0.998732614215651 NA 0.00126738578434943 NA FALSE NA 1 4.929 . missense_variant&splice_region_variant MODERATE TRIM21 HGNC 11312 ENST00000254436 3/7 1 deleterious(0) possibly_damaging(0.887) NA TTC T,C 2.482e-05 11:4389656 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 missense_variant 5.917647 0.98879 0.98492 0.706548 0.998548522942856 0 0.0930518154823646 FALSE 1.21852e-05 ENSE00000903568_008 ENSE00000903568 008 11 4410852 4411021 - 32 96 42 C G 4410895 197 127 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGGTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389664 4389665 4389665 exon -12 0.885416666666667 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGACCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 1476 362 0.997782986508199 0.998299990037679 0.998041488272939 NA NA 0.997515650541587 0.999949577889714 NA NA 0.000267335966612325 -0.00164958785203484 NA 0.998732614215651 NA -0.000691125942711257 NA FALSE NA 0 0.142 . missense_variant MODERATE TRIM21 HGNC 11312 ENST00000254436 3/7 rs375865854&COSM3375803&COSM3375802 1 tolerated(0.1) benign(0.33) NA G:0 G:0.0001 GCT C,G 8.272e-06 11:4389665 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 missense_variant 2.882858 0.96294 0.35682 0.706548 0.980814729990465 0 0.0930518154823646 FALSE 4.06164e-06 ENSE00000903568_012 ENSE00000903568 012 11 4410852 4411021 - 32 96 42 C T 4410914 201 108 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCTACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389683 4389684 4389684 exon -31 0.6875 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTAGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 13 45 1 1 1 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00248434945841303 5.04221102858304e-05 NA 0.998732614215651 NA 0.00126738578434943 NA FALSE NA 0 0.402 . synonymous_variant LOW TRIM21 HGNC 11312 ENST00000254436 3/7 1 NA CCA C,T 8.273e-06 11:4389684 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 synonymous_variant 0.541584 0.31472 0.0482 0.706548 0.513608804955641 0 0.0930518154823646 FALSE NA ENSE00000903568_019 ENSE00000903568 019 11 4410852 4411021 - 32 96 42 C T 4410964 208 58 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGTCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389733 4389734 4389734 exon 16 0.166666666666667 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGACATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 191 202 1 0.99981137769934 0.99990568884967 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00248434945841303 -0.000138200190374249 NA 0.998732614215651 NA 0.00117307463401939 NA FALSE NA 0.008 1.106 . missense_variant MODERATE TRIM21 HGNC 11312 ENST00000254436 3/7 COSM428979&COSM4032814 1 tolerated(0.16) benign(0.035) NA GCC C,T 8.274e-06 11:4389734 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 missense_variant 2.900793 0.37672 0.13457 0.706548 0.99749083857408 0 0.0930518154823646 FALSE 4.06263e-06 ENSE00000903568_021 ENSE00000903568 021 11 4410852 4411021 - 32 96 42 C T 4410979 210 43 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTTCTGCAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389748 4389749 4389749 exon 1 0.0104166666666667 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGAAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 305 27 1 1 1 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00248434945841303 5.04221102858304e-05 NA 0.998732614215651 NA 0.00126738578434943 NA FALSE NA 0.253 0.085 . missense_variant&splice_region_variant MODERATE TRIM21 HGNC 11312 ENST00000254436 3/7 1 deleterious(0.05) benign(0.03) NA TCC C,T 8.275e-06 11:4389749 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 missense_variant 3.528905 0.97105 0.47568 0.706548 0.995316126177568 0 0.0930518154823646 FALSE 1.21883e-05 ENSE00000903568_022 ENSE00000903568 022 11 4410852 4411021 - 32 96 42 C G 4410983 211 39 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGGAGAGAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389752 4389753 4389753 upstr_intron -4 -0.0714285714285714 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTCCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 132 464 1 1 1 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00248434945841303 5.04221102858304e-05 NA 0.998732614215651 NA 0.00126738578434943 NA FALSE NA 0.001 -1.454 . splice_region_variant&intron_variant LOW TRIM21 HGNC 11312 ENST00000254436 2/6 rs200983906 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0003 G:0 GCA C,G 7.448e-05 11:4389753 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 splice_region_variant 1.023859 0.24679 0.03609 0.099367 0.738687321922408 0.261228 0.0930518154823646 FALSE 6.09459e-05 ENSE00000903568_023 ENSE00000903568 023 11 4410852 4411021 - 32 96 42 G T 4410987 212 35 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGATAAAGACAGCTTATTCGTCCCCCATGCAAACCAAG 4389621 4389791 4389756 4389757 4389757 upstr_intron -8 -0.166666666666667 CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTATCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 27 81 1 1 1 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00248434945841303 5.04221102858304e-05 NA 0.998732614215651 NA 0.00126738578434943 NA FALSE NA 0.862 0.404 . splice_region_variant&intron_variant LOW TRIM21 HGNC 11312 ENST00000254436 2/6 1 NA AGA G,T 0.0001076 11:4389757 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 splice_region_variant 0.561944 0.25004 0.01888 0.099367 0.628857660480088 0.107487 0.0930518154823646 FALSE 0.000146274 ENSE00000903568_025 ENSE00000903568 025 11 4410852 4411021 - 32 96 42 C T 4411002 214 20 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTTGTCCCCCATGCAAACCAAG 4389621 4389791 4389771 4389772 4389772 upstr_intron -23 -0.523809523809524 CTTGGTTTGCATGGGGGACAAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 441 242 0.989320544302243 1 0.994660272151122 NA NA 0.997515650541587 0.999949577889714 NA NA -0.00819510623934405 5.04221102858304e-05 NA 0.998732614215651 NA -0.00407234206452911 NA FALSE NA 0.009 0.776 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:4389772 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 intron_variant 0.348616 0.26979 0.01915 0.099367 0.938278723505415 0.0509331 0.0930518154823646 FALSE 1.62588e-05 ENSE00000903568_026 ENSE00000903568 026 11 4410852 4411021 - 32 96 42 G C 4411003 215 19 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCCTCCCCCATGCAAACCAAG 4389621 4389791 4389772 4389773 4389773 upstr_intron -24 -0.547619047619048 CTTGGTTTGCATGGGGGAGGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 79 181 1 1 1 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00248434945841303 5.04221102858304e-05 NA 0.998732614215651 NA 0.00126738578434943 NA FALSE NA 0 -0.715 NA NA NA TRIM21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:4389773 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 intron_variant -0.099783 0.20482 0.02995 0.099367 0.664493950884122 0.0509331 0.0930518154823646 FALSE 0.0268427 ENSE00000903568_030 ENSE00000903568 030 11 4410852 4411021 - 32 96 42 T A 4411011 219 11 GCCTAAGATCTCCTTCAGGATGTCATTCTTACCTTCCAGTCTGCTCTCTTTATTGCAATTTCCACTTCCAACTTCTCAGCCAACTCCTGCTTTCTTCTCAGTTCCCCTAATGCCACCTGGAGCTTCTCCTGCAGAGAAAGACAGCTTATTCGTCCCCCAAGCAAACCAAG 4389621 4389791 4389780 4389781 4389781 upstr_intron -32 -0.738095238095238 CTTGGTTTGCTTGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC CTTGGTTTGCATGGGGGACGAATAAGCTGTCTTTCTCTGCAGGAGAAGCTCCAGGTGGCATTAGGGGAACTGAGAAGAAAGCAGGAGTTGGCTGAGAAGTTGGAAGTGGAAATTGCAATAAAGAGAGCAGACTGGAAGGTAAGAATGACATCCTGAAGGAGATCTTAGGC mutant NA NA NA NA NA 1067 216 1 0.999267106803173 0.999633553401587 NA NA 0.997515650541587 0.999949577889714 NA NA 0.00248434945841303 -0.000682471086540848 NA 0.998732614215651 NA 0.000900939185936089 NA FALSE NA 0 -0.65 . intron_variant MODIFIER TRIM21 HGNC 11312 ENST00000254436 2/6 1 NA ATG T,A 8.273e-06 11:4389781 TRIM21 HGNC Symbol protein_coding 8799 ENSG00000132109 ENSE00000903568 intron_variant 0.049344 0.13709 0.01475 0.099367 0.466269299223239 0.0509331 0.0930518154823646 FALSE 4.06511e-06 ENSE00000904134_000 ENSE00000904134 000 17 1399575 1399744 - 38 84 48 NA NA NA NA NA CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 NA NA NA NA NA NA AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG natural 410 693 0.821405141556194 0.876607024880485 0.849006083218339 2328 1653 0.941800389474183 0.767220874070511 0.854510631772347 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 0 0 0 0 0.849006083218339 0.854510631772347 0 0 0 FALSE FALSE NA NA NA NA NA INPP5K NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA INPP5K NA NA NA ENSG00000132376 ENSE00003537890 NA NA NA NA NA NA NA 0.0133887227764052 FALSE NA ENSE00000904134_001 ENSE00000904134 001 17 1399575 1399744 - 38 84 48 G T 1399586 122 159 CCTGCCTGCTGTTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496291 1496292 1496292 downstr_intron 27 1.72972972972973 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCAACAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant NA NA NA NA NA 462 183 0.968940808417885 0.955825901457838 0.962383354937862 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 NA NA 0.0271404189437026 0.188605027387327 0.849006083218339 0.854510631772347 NA 0.107872723165515 NA FALSE NA 0.016 -0.197 rs114221242 intron_variant MODIFIER INPP5K HGNC 33882 ENST00000574561 4/4 rs114221242 1 T:0.0056 T:0.0212 T:0 NA T:0 T:0 T:0 T:0.0146 T:0.0001 GGT G,T 0.0008741 17:1496292 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 non_coding_transcript_exon_variant 0.156463 0.19428 0.0181 0.256867 0.745804801955046 0.105487 0.0133887227764052 FALSE 0.00104657 ENSE00000904134_002 ENSE00000904134 002 17 1399575 1399744 - 38 84 48 T C 1399590 123 155 CCTGCCTGCTGGTGACGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496295 1496296 1496296 downstr_intron 23 1.62162162162162 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACGTCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 15 11 1 1 1 1410 265 0.902555379479548 0.998988346801172 0.95077186314036 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 0.178594858443806 0.123392975119515 -0.0392450099946341 0.231767472730661 0.849006083218339 0.854510631772347 0.150993916781661 0.0962612313680137 0.0547326854136468 FALSE FALSE 0.011 -1.012 . intron_variant MODIFIER INPP5K HGNC 33882 ENST00000574561 4/4 1 NA ATG T,C 2.6e-05 17:1496296 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 non_coding_transcript_exon_variant 0.048638 0.08772 0.00633 0.256867 0.544740544311927 0.160187 0.0133887227764052 FALSE 6.36789e-06 ENSE00000904134_003 ENSE00000904134 003 17 1399575 1399744 - 38 84 48 C T 1399594 124 151 CCTGCCTGCTGGTGATGTATCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496299 1496300 1496300 downstr_intron 19 1.51351351351351 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGATACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant NA NA NA NA NA 366 289 0.863808781045591 0.993698732671634 0.928753756858613 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 NA NA -0.0779916084285912 0.226477858601124 0.849006083218339 0.854510631772347 NA 0.0742431250862662 NA FALSE NA 0.016 0.195 rs147450510 intron_variant MODIFIER INPP5K HGNC 33882 ENST00000574561 4/4 rs147450510 1 T:0.0008 T:0.0023 T:0.0014 NA T:0 T:0 T:0 T:0.0039 T:0 ACC C,T 0.0001904 17:1496300 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 non_coding_transcript_exon_variant 1.507632 0.58338 0.04054 0.256867 0.878063623577532 0.105487 0.0133887227764052 FALSE 0.000222327 ENSE00000904134_004 ENSE00000904134 004 17 1399575 1399744 - 38 84 48 C T 1399608 125 137 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGATGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496313 1496314 1496314 downstr_intron 5 1.13513513513514 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACATCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 291 326 0.0900483420098745 0.0221146149562096 0.056081478483042 142 1096 0 0.0149955094590803 0.00749775472954016 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 -0.73135679954632 -0.854492409924275 -0.941800389474183 -0.75222536461143 0.849006083218339 0.854510631772347 -0.792924604735297 -0.847012877042806 0.054088272307509 TRUE TRUE 0 -0.608 . splice_region_variant&intron_variant LOW INPP5K HGNC 33882 ENST00000574561 4/4 1 NA ACG C,T 1.717e-05 17:1496314 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 splice_region_variant 0.787295 0.08757 0.00369 0.256867 0.766307193089405 0.139363 0.0133887227764052 FALSE NA ENSE00000904134_005 ENSE00000904134 005 17 1399575 1399744 - 38 84 48 C G 1399613 126 132 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACGTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496318 1496319 1496319 exon -1 1 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCACGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 20 100 0.182631998768755 0.0328965590344132 0.107764278901584 NA NA NA NA NA 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 -0.638773142787439 -0.843710465846072 NA NA 0.849006083218339 0.854510631772347 -0.741241804316755 NA NA NA TRUE 0.106 1.003 . missense_variant&splice_region_variant MODERATE INPP5K HGNC 33882 ENST00000574561 4/5 rs367903842 1 deleterious(0.01) probably_damaging(0.996) NA G:0.0002 G:0 CCT C,G 1.708e-05 17:1496319 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 missense_variant 5.598557 0.97358 0.38044 0.67177 0.996167578481113 0 0.0133887227764052 FALSE 2.45791e-05 ENSE00000904134_006 ENSE00000904134 006 17 1399575 1399744 - 38 84 48 G A 1399622 127 123 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGATTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496327 1496328 1496328 exon -10 0.892857142857143 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAATCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant NA NA NA NA NA 110 111 0.925933293184887 0.992451063322519 0.959192178253703 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 NA NA -0.0158670962892951 0.225230189252008 0.849006083218339 0.854510631772347 NA 0.104681546481356 NA FALSE NA 0.995 2.366 rs61729422 synonymous_variant LOW INPP5K HGNC 33882 ENST00000574561 4/5 rs61729422 1 A:0.0038 A:0.0121 A:0.0043 NA A:0 A:0 A:0 A:0.0212 A:0 GGT G,A 0.001531 17:1496328 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 synonymous_variant 0.578053 0.19627 0.31997 0.67177 0.706882784706962 0 0.0133887227764052 FALSE 0.00148149 ENSE00000904134_007 ENSE00000904134 007 17 1399575 1399744 - 38 84 48 C T 1399627 128 118 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTTGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496332 1496333 1496333 exon -15 0.833333333333333 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCAACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 94 71 0.85 0.85 0.85 214 350 0.84688675635968 0.988150899638996 0.917518827999338 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 0.0285948584438059 -0.0266070248804849 -0.0949136331145025 0.220930025568485 0.849006083218339 0.854510631772347 0.000993916781660498 0.0630081962269913 0.0620142794453308 FALSE FALSE 0.009 0.726 rs144837901 missense_variant MODERATE INPP5K HGNC 33882 ENST00000574561 4/5 rs144837901 1 tolerated(0.51) benign(0.018) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0001 TCG C,T 8.491e-06 17:1496333 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 missense_variant 0.545162 0.16314 0.03007 0.67177 0.816038743825046 0 0.0133887227764052 FALSE NA ENSE00000904134_009 ENSE00000904134 009 17 1399575 1399744 - 38 84 48 C T 1399649 130 96 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCTCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496354 1496355 1496355 exon -37 0.571428571428571 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGAGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant NA NA NA NA NA 78 128 0.948942383692467 0.862770442617334 0.905856413154901 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 NA NA 0.00714199421828488 0.0955495685468231 0.849006083218339 0.854510631772347 NA 0.051345781382554 NA FALSE NA 0.199 0.144 NA NA NA INPP5K NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:1496355 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 synonymous_variant 1.344809 0.92561 0.32405 0.67177 0.684121142316594 0 0.0133887227764052 FALSE NA ENSE00000904134_011 ENSE00000904134 011 17 1399575 1399744 - 38 84 48 G A 1399652 132 93 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCAACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496357 1496358 1496358 exon -40 0.535714285714286 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTTGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 239 252 0.85 0.85 0.85 NA NA NA NA NA 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 0.0285948584438059 -0.0266070248804849 NA NA 0.849006083218339 0.854510631772347 0.000993916781660498 NA NA NA FALSE 0 -0.958 . synonymous_variant LOW INPP5K HGNC 33882 ENST00000574561 4/5 rs566828608 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 2.534e-05 17:1496358 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 synonymous_variant 0.510678 0.12595 0.01983 0.67177 0.849064798026124 0 0.0133887227764052 FALSE NA ENSE00000904134_012 ENSE00000904134 012 17 1399575 1399744 - 38 84 48 C G 1399656 133 89 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCGAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496361 1496362 1496362 exon 41 0.488095238095238 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTCGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant NA NA NA NA NA 190 44 1 0.8 0.9 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 NA NA 0.0581996105258175 0.0327791259294893 0.849006083218339 0.854510631772347 NA 0.0454893682276534 NA FALSE NA 1 5.336 . missense_variant MODERATE INPP5K HGNC 33882 ENST00000574561 4/5 1 deleterious(0) probably_damaging(1) NA CCA C,G 1.689e-05 17:1496362 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 missense_variant 5.734097 0.98358 0.95423 0.67177 0.9870476976001 0 0.0133887227764052 FALSE 1.77167e-05 ENSE00000904134_013 ENSE00000904134 013 17 1399575 1399744 - 38 84 48 G A 1399658 134 87 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAAGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496363 1496364 1496364 exon 39 0.464285714285714 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCTTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 28 13 0.830172613218997 0.686763437274805 0.758468025246901 67 551 0.82083399124571 0.881076881569252 0.850955436407481 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 0.00876747166280334 -0.18984358760568 -0.120966398228473 0.113856007498741 0.849006083218339 0.854510631772347 -0.0905380579714384 -0.00355519536486576 0.0869828626065727 FALSE FALSE 0.997 1.154 rs148962273 synonymous_variant LOW INPP5K HGNC 33882 ENST00000574561 4/5 rs148962273 1 A:0.0008 A:0 A:0.0014 NA A:0 A:0.003 A:0 A:0.0005 A:0.0027 AGG G,A 0.001276 17:1496364 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 synonymous_variant 0.377391 0.95337 0.71388 0.67177 0.640946385984014 0 0.0133887227764052 FALSE 0.00181211 ENSE00000904134_014 ENSE00000904134 014 17 1399575 1399744 - 38 84 48 G A 1399670 135 75 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACATAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496375 1496376 1496376 exon 27 0.321428571428571 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTATGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 195 75 0 0.00869656955750833 0.00434828477875416 1014 1083 0.0194428211091675 0.000295360978948093 0.00986909104405781 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 -0.821405141556194 -0.867910455322977 -0.922357568365015 -0.766925513091563 0.849006083218339 0.854510631772347 -0.844657798439585 -0.844641540728289 1.62577112965412e-05 TRUE TRUE 0.023 -0.439 . synonymous_variant LOW INPP5K HGNC 33882 ENST00000574561 4/5 rs372068677 1 NA A:0 A:0.0002 CGT G,A 5.94e-05 17:1496376 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 synonymous_variant 0.071174 0.80518 0.19411 0.67177 0.783200011748167 0 0.0133887227764052 FALSE 8.26993e-05 ENSE00000904134_015 ENSE00000904134 015 17 1399575 1399744 - 38 84 48 C T 1399685 136 60 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCTCGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496390 1496391 1496391 exon 12 0.142857142857143 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGAGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 24 13 0.97135992719314 0.992325025538461 0.981842476365801 NA NA NA NA NA 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 0.149954785636946 0.115718000657976 NA NA 0.849006083218339 0.854510631772347 0.132836393147461 NA NA NA FALSE 1 0.371 . synonymous_variant LOW INPP5K HGNC 33882 ENST00000574561 4/5 1 NA CCC C,T 9.472e-05 17:1496391 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 synonymous_variant 1.437642 0.95229 0.47947 0.67177 0.753558841215201 0 0.0133887227764052 FALSE 0.000134659 ENSE00000904134_016 ENSE00000904134 016 17 1399575 1399744 - 38 84 48 C T 1399686 137 59 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCTGCAGCCCCACCTGTGAGGGGGAGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496391 1496392 1496392 exon 11 0.130952380952381 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCAGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant 15 28 0.85 0.85 0.85 335 1091 0.812822068216234 0.828368527996238 0.820595298106236 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 0.0285948584438059 -0.0266070248804849 -0.128978321257949 0.0611476539257275 0.849006083218339 0.854510631772347 0.000993916781660498 -0.0339153336661105 0.034909250447771 FALSE FALSE 1 2.722 . missense_variant MODERATE INPP5K HGNC 33882 ENST00000574561 4/5 rs558584523 1 deleterious(0.02) probably_damaging(0.995) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 8.623e-06 17:1496392 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 missense_variant 7.433374 0.98269 0.88656 0.67177 0.999453559721205 0 0.0133887227764052 FALSE NA ENSE00000904134_017 ENSE00000904134 017 17 1399575 1399744 - 38 84 48 A C 1399708 138 37 CCTGCCTGCTGGTGATGTACCTGGTGCTGGTGACGTACCTGGTTCAGGTTGTCGCTGCAGGAGACCTTGCTGTCCCCGACCCAGGCATAGGACACGTAGTCATTAACGTCCCGCAGCCCCACCTGTGAGGGGGCGTCAGGCCATCAGTGGTCAGGGAGGACATGGGACCT 1496280 1496450 1496413 1496414 1496414 upstr_intron -12 -0.229166666666667 AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACGCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG AGGTCCCATGTCCTCCCTGACCACTGATGGCCTGACTCCCCCTCACAGGTGGGGCTGCGGGACGTTAATGACTACGTGTCCTATGCCTGGGTCGGGGACAGCAAGGTCTCCTGCAGCGACAACCTGAACCAGGTACGTCACCAGCACCAGGTACATCACCAGCAGGCAGG mutant NA NA NA NA NA 39 52 0.0510307632302393 0 0.0255153816151197 0.821405141556194 0.876607024880485 0.941800389474183 0.767220874070511 NA NA -0.890769626243943 -0.767220874070511 0.849006083218339 0.854510631772347 NA -0.828995250157227 NA TRUE NA 0 -0.114 . intron_variant MODIFIER INPP5K HGNC 33882 ENST00000574561 3/4 1 NA GAG A,C 5.249e-05 17:1496414 INPP5K HGNC Symbol protein_coding 22317 ENSG00000132376 ENSE00003537890 non_coding_transcript_exon_variant -0.039388 0.17734 0.06434 0.069865 0.48537822693879 0.168916 0.0133887227764052 FALSE 8.9011e-05 ENSE00000904386_000 ENSE00000904386 000 4 71501490 71501659 + 59 63 48 NA NA NA NA NA TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 NA NA NA NA NA NA TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT natural NA NA NA NA NA 827 1321 0.992124163630547 0.991520629760726 0.991822396695636 NA NA 0.992124163630547 0.991520629760726 NA NA 0 0 NA 0.991822396695636 NA 0 NA FALSE NA NA NA NA NA NA ENAM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENAM NA NA NA ENSG00000132464 ENSE00000904386 NA NA NA NA NA NA NA 5.67050431084391e-07 FALSE NA ENSE00000904386_001 ENSE00000904386 001 4 71501490 71501659 + 59 63 48 A G 71501521 755 32 TCATTTTTTTATGTATTCTTTTCAATACCACGTCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635803 70635804 70635804 upstr_intron -28 -0.457627118644068 TCATTTTTTTATGTATTCTTTTCAATACCACGTCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 101 205 0.995005510901742 1 0.997502755450871 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00288134727119549 0.00847937023927403 NA 0.991822396695636 NA 0.00568035875523476 NA FALSE NA 0 0.043 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA CAT A,G 8.236e-06 4:70635804 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 intron_variant 1.605649 0.14921 0.06826 0.053691 0.748888768226573 0.0527974 5.67050431084391e-07 FALSE 4.08323e-06 ENSE00000904386_003 ENSE00000904386 003 4 71501490 71501659 + 59 63 48 G A 71501529 757 40 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTAATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635811 70635812 70635812 upstr_intron -20 -0.322033898305085 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTAATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 34 42 1 0.995277995216145 0.997638997608073 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00787583636945333 0.00375736545541916 NA 0.991822396695636 NA 0.00581660091243624 NA FALSE NA 0 -0.084 rs147177510 upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 rs147177510 1 A:0.0028 A:0.0098 A:0.0014 NA A:0 A:0 A:0 A:0.0068 A:0.0001 TGA G,A 0.0006671 4:70635812 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 intron_variant 1.788428 0.15924 0.02295 0.053691 0.710444045539394 0.0520015 5.67050431084391e-07 FALSE 0.000583117 ENSE00000904386_005 ENSE00000904386 005 4 71501490 71501659 + 59 63 48 C A 71501537 759 48 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTATTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635819 70635820 70635820 upstr_intron -12 -0.186440677966102 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTATTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 84 97 1 0.969080498047283 0.984540249023641 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00787583636945333 -0.0224401317134434 NA 0.991822396695636 NA -0.00728214767199503 NA FALSE NA 0 0.187 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA TCT C,A 8.236e-06 4:70635820 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 intron_variant 1.962091 0.2395 0.06064 0.053691 0.714217124071689 0.0599263 5.67050431084391e-07 FALSE NA ENSE00000904386_006 ENSE00000904386 006 4 71501490 71501659 + 59 63 48 T C 71501538 760 49 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCCTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635820 70635821 70635821 upstr_intron -11 -0.169491525423729 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCCTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 65 33 0.997633989193698 1 0.998816994596849 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00550982556315172 0.00847937023927403 NA 0.991822396695636 NA 0.00699459790121287 NA FALSE NA 0.001 -0.059 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA CTT T,C 8.236e-06 4:70635821 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 intron_variant 1.665184 0.22092 0.0269 0.053691 0.841756213282497 0.100236 5.67050431084391e-07 FALSE 8.14286e-06 ENSE00000904386_009 ENSE00000904386 009 4 71501490 71501659 + 59 63 48 T C 71501561 763 72 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCACTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635843 70635844 70635844 exon 13 0.206349206349206 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCACTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 447 1246 0.999723475322996 0.998768836810049 0.999246156066523 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00759931169244965 0.00724820704932327 NA 0.991822396695636 NA 0.00742375937088646 NA FALSE NA 1 3.842 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA ATT T,C 1.647e-05 4:70635844 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 missense_variant 5.845705 0.98214 0.88803 0.554377 0.992907585030208 0 5.67050431084391e-07 FALSE 8.1406e-06 ENSE00000904386_010 ENSE00000904386 010 4 71501490 71501659 + 59 63 48 C T 71501573 764 84 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGTTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635855 70635856 70635856 exon 25 0.396825396825397 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGTTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 333 483 0.998256866673097 0.999672422108725 0.998964644390911 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00613270304255076 0.00815179234799934 NA 0.991822396695636 NA 0.00714224769527505 NA FALSE NA 0.058 -0.158 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 rs570928251 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCT C,T 8.236e-06 4:70635856 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 synonymous_variant 1.035841 0.26827 0.03685 0.554377 0.54841718897598 0 5.67050431084391e-07 FALSE 8.14001e-06 ENSE00000904386_011 ENSE00000904386 011 4 71501490 71501659 + 59 63 48 C G 71501578 765 89 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTGCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635860 70635861 70635861 exon 30 0.476190476190476 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTGCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 166 65 1 0.95 0.975 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00787583636945333 -0.041520629760726 NA 0.991822396695636 NA -0.0168223966956363 NA FALSE NA 0.634 0.153 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA TCC C,G 8.236e-06 4:70635861 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 missense_variant 4.74773 0.92441 0.2667 0.554377 0.974096815526581 0 5.67050431084391e-07 FALSE NA ENSE00000904386_012 ENSE00000904386 012 4 71501490 71501659 + 59 63 48 C A 71501579 766 90 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCACCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635861 70635862 70635862 exon 31 0.492063492063492 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCACCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 202 362 0.98127334345357 1 0.990636671726785 NA NA 0.992124163630547 0.991520629760726 NA NA -0.0108508201769763 0.00847937023927403 NA 0.991822396695636 NA -0.00118572496885111 NA FALSE NA 0.794 2.528 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA CCC C,A 8.236e-06 4:70635862 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 missense_variant 5.187399 0.97464 0.80397 0.554377 0.983205325137284 0 5.67050431084391e-07 FALSE 4.0703e-06 ENSE00000904386_014 ENSE00000904386 014 4 71501490 71501659 + 59 63 48 A G 71501583 768 94 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTGTCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635865 70635866 70635866 exon -29 0.555555555555556 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTGTCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 255 61 1 0.982710427128861 0.991355213564431 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00787583636945333 -0.00881020263186449 NA 0.991822396695636 NA -0.000467183131205584 NA FALSE NA 0.128 0.51 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA TAT A,G 4.942e-05 4:70635866 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 missense_variant 4.296969 0.74572 0.10813 0.554377 0.972900491002233 0 5.67050431084391e-07 FALSE 4.47952e-05 ENSE00000904386_017 ENSE00000904386 017 4 71501490 71501659 + 59 63 48 A G 71501590 771 101 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAGCCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635872 70635873 70635873 exon -22 0.666666666666667 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAGCCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 189 148 1 1 1 NA NA 0.992124163630547 0.991520629760726 NA NA 0.00787583636945333 0.00847937023927403 NA 0.991822396695636 NA 0.00817760330436368 NA FALSE NA 0.195 0.179 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA AAC A,G 4.118e-05 4:70635873 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 synonymous_variant 1.22851 0.5083 0.01956 0.487112 0.343894761443343 0 5.67050431084391e-07 FALSE 2.44397e-05 ENSE00000904386_020 ENSE00000904386 020 4 71501490 71501659 + 59 63 48 C G 71501609 774 120 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCAGAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635891 70635892 70635892 exon -3 0.968253968253968 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCAGAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 148 155 0.8 1 0.9 NA NA 0.992124163630547 0.991520629760726 NA NA -0.192124163630547 0.00847937023927403 NA 0.991822396695636 NA -0.0918223966956363 NA FALSE NA 1 3.949 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 rs574769451 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 ACA C,G 2.471e-05 4:70635892 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 missense_variant 2.882809 0.98596 0.9213 0.487112 0.965964340283338 0 5.67050431084391e-07 FALSE 1.63361e-05 ENSE00000904386_021 ENSE00000904386 021 4 71501490 71501659 + 59 63 48 T A 71501621 775 132 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATATTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT 70635772 70635942 70635903 70635904 70635904 downstr_intron 10 1.21276595744681 TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATATTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT TCATTTTTTTATGTATTCTTTTCAATACCACATCACTCTGATTCTTTCTTTCTCTCTAGGCATTCCCACCATTTGGAAATGGGCTATTCCCCTATCAACAACCACCATGGCAAATTCCACAGGTGAGAAATTTTTTTTTCTTTACACTGTAAGTGAAAAATAATATTAGT mutant NA NA NA NA NA 477 21 0.995604724523274 1 0.997802362261637 NA NA 0.992124163630547 0.991520629760726 NA NA 0.0034805608927273 0.00847937023927403 NA 0.991822396695636 NA 0.00597996556600067 NA FALSE NA 0.005 0.081 . upstream_gene_variant MODIFIER ENAM HGNC 3344 ENST00000472903 1 NA TTT T,A 8.237e-06 4:70635904 ENAM HGNC Symbol protein_coding 58072 ENSG00000132464 ENSE00000904386 intron_variant 1.35127 0.20548 0.13612 0.053691 0.651744645429408 0.0456653 5.67050431084391e-07 FALSE 4.12483e-06 ENSE00000904840_000 ENSE00000904840 000 1 156946731 156946900 - 44 72 54 NA NA NA NA NA TTTCACTCAGGCAATGGCCAGTCTACCCTTGGCAGTGACCTTACCTGTAATTCTTTTTCTTCCTGCCTCAGCATATTCCTGAGGATCTGGGTGGCATGTTTTTGAACTTCGGGATCCTAGACATGGAAAATATGGCAATATAAGAGTTAGGGACTAACTCAACAGCTTAG 156976938 156977108 NA NA NA NA NA NA CTAAGCTGTTGAGTTAGTCCCTAACTCTTATATTGCCATATTTTCCATGTCTAGGATCCCGAAGTTCAAAAACATGCCACCCAGATCCTCAGGAATATGCTGAGGCAGGAAGAAAAAGAATTACAGGTAAGGTCACTGCCAAGGGTAGACTGGCCATTGCCTGAGTGAAA CTAAGCTGTTGAGTTAGTCCCTAACTCTTATATTGCCATATTTTCCATGTCTAGGATCCCGAAGTTCAAAAACATGCCACCCAGATCCTCAGGAATATGCTGAGGCAGGAAGAAAAAGAATTACAGGTAAGGTCACTGCCAAGGGTAGACTGGCCATTGCCTGAGTGAAA natural 29 55 0.775999805378435 0.645955729725588 0.710977767552011 1702 412 0.984341315563331 0.994976614396914 0.989658964980123 0.775999805378435 0.645955729725588 0.984341315563331 0.994976614396914 0 0 0 0 0.710977767552011 0.989658964980123 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00000904840 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000906751_000 ENSE00000906751 000 20 10536834 10537003 + 45 90 35 NA NA NA NA NA TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 NA NA NA NA NA NA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA natural 78 100 0.984037167929007 0.97396004882694 0.978998608377974 5433 7574 0.966363015476752 0.926581922508958 0.946472468992855 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 0 0 0 0 0.978998608377974 0.946472468992855 0 0 0 FALSE FALSE NA NA NA NA NA SLX4IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLX4IP NA NA NA ENSG00000149346 ENSE00000906751 NA NA NA NA NA NA NA 2.33883944799938e-05 FALSE NA ENSE00000906751_001 ENSE00000906751 001 20 10536834 10537003 + 45 90 35 G A 10536844 223 11 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGTGGCTCATGCC 10556185 10556355 10556195 10556196 10556196 upstr_intron -35 -0.755555555555556 GGCATGAGCCACACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 36 1122 0.991374767404456 0.864703754557835 0.928039260981146 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0250117519277049 -0.0618781679511229 0.978998608377974 0.946472468992855 NA -0.018433208011709 NA FALSE NA 0 -0.379 . intron_variant MODIFIER SLX4IP HGNC 16225 ENST00000334534 2/7 1 NA CGC G,A 1.647e-05 20:10556196 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 intron_variant 1.344248 0.21167 0.01957 0.235255 0.84025965966089 0.206937 2.33883944799938e-05 FALSE NA ENSE00000906751_002 ENSE00000906751 002 20 10536834 10537003 + 45 90 35 A G 10536848 224 15 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCCGTGCGGCTCATGCC 10556185 10556355 10556199 10556200 10556200 upstr_intron -31 -0.666666666666667 GGCATGAGCCGCACGGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 32 235 0.998706810611101 1 0.999353405305551 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0323437951343496 0.0734180774910425 0.978998608377974 0.946472468992855 NA 0.052880936312696 NA FALSE NA 0.045 0.698 . intron_variant MODIFIER SLX4IP HGNC 16225 ENST00000334534 2/7 1 NA CAG A,G 8.237e-06 20:10556200 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 intron_variant 1.372532 0.22055 0.06932 0.235255 0.756294404122249 0.209617 2.33883944799938e-05 FALSE 4.17763e-06 ENSE00000906751_003 ENSE00000906751 003 20 10536834 10537003 + 45 90 35 C T 10536853 225 20 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAATGTCTGTGCGGCTCATGCC 10556185 10556355 10556204 10556205 10556205 upstr_intron -26 -0.555555555555556 GGCATGAGCCGCACAGACATTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 721 1218 0.999083151788775 0.988125147200067 0.993604149494421 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0327201363120233 0.0615432246911093 0.978998608377974 0.946472468992855 NA 0.0471316805015663 NA FALSE NA 0 -1.347 . intron_variant MODIFIER SLX4IP HGNC 16225 ENST00000334534 2/7 rs374366234 1 NA T:0 T:0.0001 ACT C,T 8.237e-06 20:10556205 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 intron_variant 2.031793 0.27798 0.04086 0.163922 0.794581452904959 0.207373 2.33883944799938e-05 FALSE 4.11828e-06 ENSE00000906751_004 ENSE00000906751 004 20 10536834 10537003 + 45 90 35 C T 10536863 226 30 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATAGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556214 10556215 10556215 upstr_intron -16 -0.333333333333333 GGCATGAGCCGCACAGACACTGACTCTGCTATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 269 888 0.992428728480551 0.999613354669893 0.996021041575222 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0260657130037997 0.0730314321609353 0.978998608377974 0.946472468992855 NA 0.0495485725823675 NA FALSE NA 0 0.761 . intron_variant MODIFIER SLX4IP HGNC 16225 ENST00000334534 2/7 rs542067287 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCA C,T 8.237e-06 20:10556215 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 intron_variant 1.586602 0.44624 0.06737 0.163922 0.817367027286176 0.239943 2.33883944799938e-05 FALSE 4.10021e-06 ENSE00000906751_005 ENSE00000906751 005 20 10536834 10537003 + 45 90 35 T C 10536865 227 32 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAGTGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556216 10556217 10556217 upstr_intron -14 -0.288888888888889 GGCATGAGCCGCACAGACACTGACTCTGCCACTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 806 789 0.996685683890671 0.989736119197239 0.993210901543955 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0303226684139198 0.0631541966882819 0.978998608377974 0.946472468992855 NA 0.0467384325511009 NA FALSE NA 0.004 1.93 . intron_variant MODIFIER SLX4IP HGNC 16225 ENST00000334534 2/7 1 NA ATT T,C 8.237e-06 20:10556217 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 intron_variant 0.868231 0.25626 0.16807 0.163922 0.718956137258016 0.313947 2.33883944799938e-05 FALSE 4.09725e-06 ENSE00000906751_006 ENSE00000906751 006 20 10536834 10537003 + 45 90 35 C T 10536872 228 39 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAAACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556223 10556224 10556224 upstr_intron -7 -0.133333333333333 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTTTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 193 1316 1 0.999357089629652 0.999678544814826 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0336369845232485 0.0727751671206945 0.978998608377974 0.946472468992855 NA 0.0532060758219715 NA FALSE NA 0.973 0.383 . splice_region_variant&intron_variant LOW SLX4IP HGNC 16225 ENST00000334534 2/7 rs377670412 1 NA T:0 T:0.0001 TCT C,T 3.295e-05 20:10556224 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 splice_region_variant 2.122991 0.9046 0.45239 0.163922 0.78297136516167 0.460591 2.33883944799938e-05 FALSE 2.04369e-05 ENSE00000906751_007 ENSE00000906751 007 20 10536834 10537003 + 45 90 35 G C 10536882 229 49 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCGACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556233 10556234 10556234 exon 4 0.0444444444444444 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTCGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 1628 645 0.998340461466833 0.984496869365436 0.991418665416135 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0319774459900813 0.0579149468564788 0.978998608377974 0.946472468992855 NA 0.0449461964232801 NA FALSE NA 1 2.327 rs144253292 missense_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 rs144253292 1 deleterious(0.04) benign(0.235) C:0.0008 C:0.003 C:0 NA C:0 C:0 C:0 C:0.0034 C:0 TGG G,C 0.0003871 20:10556234 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant 4.381968 0.94929 0.84444 0.706298 0.999310951034285 0 2.33883944799938e-05 FALSE 0.000318276 ENSE00000906751_008 ENSE00000906751 008 20 10536834 10537003 + 45 90 35 A G 10536885 230 52 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATCCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556236 10556237 10556237 exon 7 0.0777777777777778 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGGATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 2630 553 0.998392914385282 0.999169874749436 0.998781394567359 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0320298989085308 0.0725879522404781 0.978998608377974 0.946472468992855 NA 0.0523089255745045 NA FALSE NA 1 2.124 . missense_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 1 tolerated(0.1) benign(0.009) NA GAA A,G 8.237e-06 20:10556237 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant 2.302488 0.90721 0.66931 0.6512 0.991171587921404 0 2.33883944799938e-05 FALSE NA ENSE00000906751_010 ENSE00000906751 010 20 10536834 10537003 + 45 90 35 C G 10536896 232 63 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGCACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556247 10556248 10556248 exon 18 0.2 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTGCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 253 4659 1 0.955686075289878 0.977843037644939 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0336369845232485 0.0291041527809206 0.978998608377974 0.946472468992855 NA 0.0313705686520845 NA FALSE NA 0.988 0.023 rs148712172 synonymous_variant LOW SLX4IP HGNC 16225 ENST00000334534 3/8 rs148712172 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0048 G:0 TCC C,G 0.0004942 20:10556248 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 synonymous_variant 1.617895 0.91472 0.52627 0.6512 0.836475255222794 0 2.33883944799938e-05 FALSE 0.000419528 ENSE00000906751_011 ENSE00000906751 011 20 10536834 10537003 + 45 90 35 C T 10536897 233 64 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAAGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556248 10556249 10556249 exon 19 0.211111111111111 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCTTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 695 1244 0.994398134286001 0.992056436321923 0.993227285303962 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0280351188092497 0.0654745138129652 0.978998608377974 0.946472468992855 NA 0.0467548163111074 NA FALSE NA 1 1.98 . missense_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 rs557180845 1 deleterious(0) probably_damaging(0.999) NA CCT C,T 1.647e-05 20:10556249 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant 6.554139 0.94504 0.74545 0.6512 0.998915517566327 0 2.33883944799938e-05 FALSE 1.62937e-05 ENSE00000906751_012 ENSE00000906751 012 20 10536834 10537003 + 45 90 35 G A 10536900 234 67 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCATGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556251 10556252 10556252 exon 22 0.244444444444444 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCATGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 1139 1121 0.998983911426574 0.980589710080199 0.989786810753386 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0326208959498226 0.054007787571241 0.978998608377974 0.946472468992855 NA 0.0433143417605318 NA FALSE NA 1 6.557 . missense_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 1 deleterious(0) probably_damaging(0.999) NA CGT G,A 8.237e-06 20:10556252 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant 6.742102 0.96286 0.93966 0.6512 0.998991694010944 0 2.33883944799938e-05 FALSE 4.07382e-06 ENSE00000906751_014 ENSE00000906751 014 20 10536834 10537003 + 45 90 35 A G 10536912 236 79 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGACATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556263 10556264 10556264 exon 34 0.377777777777778 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATGTCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 531 1977 0.908958177406685 0.999591877953248 0.954275027679966 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA -0.0574048380700669 0.0730099554442905 0.978998608377974 0.946472468992855 NA 0.00780255868711177 NA FALSE NA 0.028 0.057 . missense_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 1 tolerated(0.37) benign(0.007) NA TAT A,G 8.237e-06 20:10556264 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant -2.060951 0.1833 0.04214 0.6512 0.469664823264448 0 2.33883944799938e-05 FALSE 4.07551e-06 ENSE00000906751_016 ENSE00000906751 016 20 10536834 10537003 + 45 90 35 A T 10536931 238 98 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGATTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556282 10556283 10556283 exon -38 0.588888888888889 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAATCAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 1245 84 0.814792214009538 1 0.907396107004769 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA -0.151570801467214 0.0734180774910425 0.978998608377974 0.946472468992855 NA -0.0390763619880857 NA FALSE NA 0.998 0.204 . missense_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 1 deleterious(0) probably_damaging(0.914) NA AAC A,T 8.237e-06 20:10556283 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant 4.796573 0.89179 0.5835 0.6512 0.989474904066608 0 2.33883944799938e-05 FALSE 8.15634e-06 ENSE00000906751_017 ENSE00000906751 017 20 10536834 10537003 + 45 90 35 T C 10536938 239 105 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTGTCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556289 10556290 10556290 exon -31 0.666666666666667 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGACACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 1635 1955 0.999974827092387 0.998580963659672 0.999277895376029 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0336118116156351 0.071999041150714 0.978998608377974 0.946472468992855 NA 0.0528054263831745 NA FALSE NA 1 0.71 . synonymous_variant LOW SLX4IP HGNC 16225 ENST00000334534 3/8 1 NA ATA T,C 8.237e-06 20:10556290 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 synonymous_variant 0.457268 0.88054 0.35145 0.6512 0.716105707579186 0 2.33883944799938e-05 FALSE 4.07943e-06 ENSE00000906751_018 ENSE00000906751 018 20 10536834 10537003 + 45 90 35 G A 10536943 240 110 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGTTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556294 10556295 10556295 exon -26 0.722222222222222 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAACTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 232 360 0.953155415267103 0.997530922510881 0.975343168888992 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA -0.0132076002096487 0.0709490000019233 0.978998608377974 0.946472468992855 NA 0.0288706998961373 NA FALSE NA 1 4.781 . missense_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 1 deleterious(0) probably_damaging(0.999) NA AGC G,A 3.295e-05 20:10556295 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant 4.885535 0.94823 0.81805 0.6512 0.995162883299605 0 2.33883944799938e-05 FALSE 2.04058e-05 ENSE00000906751_020 ENSE00000906751 020 20 10536834 10537003 + 45 90 35 T C 10536953 242 120 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCGGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556304 10556305 10556305 exon -16 0.833333333333333 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCCGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 1522 145 0.92313866903551 0.999737107272492 0.961437888154001 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA -0.0432243464412412 0.073155184763534 0.978998608377974 0.946472468992855 NA 0.0149654191611464 NA FALSE NA 1 0.269 . synonymous_variant LOW SLX4IP HGNC 16225 ENST00000334534 3/8 1 NA CTG T,C 8.237e-06 20:10556305 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 synonymous_variant 0.764399 0.92643 0.59328 0.6512 0.830940190818134 0 2.33883944799938e-05 FALSE 4.0836e-06 ENSE00000906751_021 ENSE00000906751 021 20 10536834 10537003 + 45 90 35 A G 10536956 243 123 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGCTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556307 10556308 10556308 exon -13 0.866666666666667 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAGCAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 325 810 0.998084980742485 0.991623200025328 0.994854090383906 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0317219652657339 0.06504127751637 0.978998608377974 0.946472468992855 NA 0.048381621391052 NA FALSE NA 1 0.97 rs73243730 synonymous_variant LOW SLX4IP HGNC 16225 ENST00000334534 3/8 rs73243730 1 G:0.0018 G:0.0061 G:0.0014 NA G:0 G:0 G:0 G:0.0138 G:0 AAC A,G 0.001021 20:10556308 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 synonymous_variant 0.934659 0.91141 0.56442 0.6512 0.760714509592184 0 2.33883944799938e-05 FALSE 0.000796042 ENSE00000906751_022 ENSE00000906751 022 20 10536834 10537003 + 45 90 35 A G 10536958 244 125 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTCTTTCTTCCGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556309 10556310 10556310 exon -11 0.888888888888889 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACGGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 613 967 0.991132331989759 0.999599639045033 0.995365985517396 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.024769316513008 0.0730177165360753 0.978998608377974 0.946472468992855 NA 0.0488935165245416 NA FALSE NA 1 6.286 . missense_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 rs573887761 1 deleterious(0.01) possibly_damaging(0.451) NA CAG A,G 8.237e-06 20:10556310 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant 4.155183 0.96261 0.90075 0.6512 0.993200177511996 0 2.33883944799938e-05 FALSE 8.1943e-06 ENSE00000906751_023 ENSE00000906751 023 20 10536834 10537003 + 45 90 35 G A 10536966 245 133 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGTACCTTTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556317 10556318 10556318 exon -3 0.977777777777778 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAAAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 223 653 0.988106219555052 0.996974277266176 0.992540248410614 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0217432040783008 0.0703923547572186 0.978998608377974 0.946472468992855 NA 0.0460677794177597 NA FALSE NA 1 3.052 rs140331531 missense_variant&splice_region_variant MODERATE SLX4IP HGNC 16225 ENST00000334534 3/8 rs140331531 1 deleterious(0.01) benign(0.085) NA A:0 A:0.0001 AGA G,A 2.471e-05 20:10556318 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 missense_variant 2.99602 0.93747 0.7427 0.6512 0.993061091288796 0 2.33883944799938e-05 FALSE 2.86794e-05 ENSE00000906751_024 ENSE00000906751 024 20 10536834 10537003 + 45 90 35 A G 10536971 246 138 TACTTGCAATTAAATAGTAGAAAGTTTTGTTGCACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556322 10556323 10556323 downstr_intron 3 1.08823529411765 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTGCAACAAAACTTTCTACTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 1021 1033 0.8 0.801222644680931 0.800611322340465 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA -0.166363015476751 -0.125359277828027 0.978998608377974 0.946472468992855 NA -0.145861146652389 NA FALSE NA 1 4.601 . splice_region_variant&intron_variant LOW SLX4IP HGNC 16225 ENST00000334534 3/7 1 NA TAC A,G 8.237e-06 20:10556323 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 splice_region_variant 1.334984 0.93733 0.80987 0.108992 0.901474960174444 0.958379 2.33883944799938e-05 FALSE 4.10998e-06 ENSE00000906751_025 ENSE00000906751 025 20 10536834 10537003 + 45 90 35 A T 10536986 247 153 TACTTGCAATTAAATAGAAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556337 10556338 10556338 downstr_intron 18 1.52941176470588 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTTCTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 760 842 0.950270704382145 0.930260762459957 0.940265733421051 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA -0.0160923110946063 0.00367883995099982 0.978998608377974 0.946472468992855 NA -0.00620673557180323 NA FALSE NA 0.017 0.884 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:10556338 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 intron_variant -0.251579 0.21608 0.04258 0.108992 0.402651833155725 0.0667392 2.33883944799938e-05 FALSE 1.65063e-05 ENSE00000906751_026 ENSE00000906751 026 20 10536834 10537003 + 45 90 35 A G 10536986 248 153 TACTTGCAATTAAATAGCAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556337 10556338 10556338 downstr_intron 18 1.52941176470588 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTGCTATTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 5633 640 0.954577378551225 0.989218977255496 0.971898177903361 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA -0.0117856369255266 0.0626370547465389 0.978998608377974 0.946472468992855 NA 0.0254257089105062 NA FALSE NA 0.017 0.884 NA NA NA SLX4IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLX4IP NA NA NA ENSG00000149346 ENSE00000906751 intron_variant -0.131203 0.21806 0.08847 0.108992 0.46411165689009 0.0667392 2.33883944799938e-05 FALSE 4.12657e-06 ENSE00000906751_027 ENSE00000906751 027 20 10536834 10537003 + 45 90 35 A G 10536989 249 156 TACTTGCAATTAAACAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556340 10556341 10556341 downstr_intron 21 1.61764705882353 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTGTTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 105 457 1 0.998656364135514 0.999328182067757 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0336369845232485 0.0720744416265569 0.978998608377974 0.946472468992855 NA 0.0528557130749027 NA FALSE NA 0.008 -0.747 . intron_variant MODIFIER SLX4IP HGNC 16225 ENST00000334534 3/7 1 NA TAT A,G 8.237e-06 20:10556341 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 intron_variant -0.297077 0.15468 0.05776 0.108992 0.334581776160218 0.0667392 2.33883944799938e-05 FALSE 8.3414e-06 ENSE00000906751_028 ENSE00000906751 028 20 10536834 10537003 + 45 90 35 T C 10536990 250 157 TACTTGCAATTAAGTAGTAGAAAGTTTTGTTGTACCTCTTTCTTCTGTTCAGAAAACCAGCTTGTATCTTTGTTTGAACCTTGTGGCAAGATATGAAGATCCACGAGGACAGCAAAATTCCCACACTGAAAGACATTAATGGCAGAGTCAGTGTCTGTGCGGCTCATGCC 10556185 10556355 10556341 10556342 10556342 downstr_intron 22 1.64705882352941 GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTACTTAATTGCAAGTA GGCATGAGCCGCACAGACACTGACTCTGCCATTAATGTCTTTCAGTGTGGGAATTTTGCTGTCCTCGTGGATCTTCATATCTTGCCACAAGGTTCAAACAAAGATACAAGCTGGTTTTCTGAACAGAAGAAAGAGGTACAACAAAACTTTCTACTATTTAATTGCAAGTA mutant NA NA NA NA NA 782 66 0.997388934303432 1 0.998694467151716 0.984037167929007 0.97396004882694 0.966363015476752 0.926581922508958 NA NA 0.0310259188266804 0.0734180774910425 0.978998608377974 0.946472468992855 NA 0.0522219981588614 NA FALSE NA 0.13 0.411 . intron_variant MODIFIER SLX4IP HGNC 16225 ENST00000334534 3/7 1 NA ATT T,C 8.237e-06 20:10556342 SLX4IP HGNC Symbol protein_coding 201526 ENSG00000149346 ENSE00000906751 intron_variant -0.259308 0.25973 0.03919 0.108992 0.53657967291799 0.0667392 2.33883944799938e-05 FALSE NA ENSE00000906770_000 ENSE00000906770 000 20 13856643 13856812 - 41 78 51 NA NA NA NA NA TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 NA NA NA NA NA NA TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT natural 36 72 0.999524721856332 0.996272195987279 0.997898458921805 6138 10096 0.906679912234534 0.986291311525059 0.946485611879797 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 0 0 0 0 0.997898458921805 0.946485611879797 0 0 0 FALSE FALSE NA NA NA NA NA SEL1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEL1L2 NA NA NA ENSG00000101251 ENSE00003462972 NA NA NA NA NA NA NA 2.6912869713909e-11 FALSE NA ENSE00000906770_001 ENSE00000906770 001 20 13856643 13856812 - 41 78 51 T C 13856658 253 155 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAGCACATACACACAAAT 13875996 13876166 13876011 13876012 13876012 downstr_intron 26 1.65 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAGCACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 42 1239 1 0.999938545070795 0.999969272535397 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0933200877654659 0.0136472335457358 0.997898458921805 0.946485611879797 NA 0.0534836606556008 NA FALSE NA 0.021 0.494 . intron_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/18 1 NA GTT T,C 8.272e-06 20:13876012 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 intron_variant 0.047651 0.23964 0.02877 0.074388 0.487180008927537 0.0643616 2.6912869713909e-11 FALSE 4.06408e-06 ENSE00000906770_003 ENSE00000906770 003 20 13856643 13856812 - 41 78 51 A G 13856666 255 147 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACCGTTGTAAACACATACACACAAAT 13875996 13876166 13876019 13876020 13876020 downstr_intron 18 1.45 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACCGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 686 1846 0.999519086409025 0.997845525843086 0.998682306126055 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0928391741744906 0.0115542143180263 0.997898458921805 0.946485611879797 NA 0.0521966942462584 NA FALSE NA 0 0.309 . intron_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/18 rs200647485 1 NA G:0 G:0.0002 CAG A,G 0.000182 20:13876020 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 intron_variant -0.184914 0.24584 0.05697 0.074388 0.259415066938377 0.0643616 2.6912869713909e-11 FALSE 0.000272247 ENSE00000906770_004 ENSE00000906770 004 20 13856643 13856812 - 41 78 51 T C 13856668 256 145 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCGCTGTTGTAAACACATACACACAAAT 13875996 13876166 13876021 13876022 13876022 downstr_intron 16 1.4 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCGCTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 1359 746 0.998507946142296 0.993544494386986 0.996026220264641 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0918280339077615 0.00725318286192678 0.997898458921805 0.946485611879797 NA 0.0495406083848441 NA FALSE NA 0.001 0.401 . intron_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/18 1 NA GTG T,C 8.273e-06 20:13876022 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 intron_variant -0.035808 0.26539 0.0661 0.074388 0.278197020324538 0.0643616 2.6912869713909e-11 FALSE 4.06243e-06 ENSE00000906770_005 ENSE00000906770 005 20 13856643 13856812 - 41 78 51 A T 13856671 257 142 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAAAGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876024 13876025 13876025 downstr_intron 13 1.325 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAAAGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 259 804 0.989991740518663 0.998416549106808 0.994204144812736 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0833118282841293 0.0121252375817492 0.997898458921805 0.946485611879797 NA 0.0477185329329393 NA FALSE NA 0 0.025 . intron_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/18 rs560621629 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CAT A,T 0.0001241 20:13876025 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 intron_variant -0.008025 0.27453 0.05271 0.074388 0.455242827592269 0.0643616 2.6912869713909e-11 FALSE 0.000105596 ENSE00000906770_006 ENSE00000906770 006 20 13856643 13856812 - 41 78 51 T C 13856681 258 132 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTGTGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876034 13876035 13876035 downstr_intron 3 1.075 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTGTGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 989 187 0.043727474081383 0.0794694962201314 0.0615984851507572 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA -0.862952438153151 -0.906821815304928 0.997898458921805 0.946485611879797 NA -0.884887126729039 NA TRUE NA 0.939 2.46 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SEL1L2 HGNC 15897 ENST00000486903 12/18 1 NA ATA T,C 8.274e-06 20:13876035 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 splice_region_variant 1.368434 0.98092 0.62449 0.074388 0.91426558750762 0.807672 2.6912869713909e-11 FALSE 4.06118e-06 ENSE00000906770_007 ENSE00000906770 007 20 13856643 13856812 - 41 78 51 T C 13856686 259 127 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTGAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876039 13876040 13876040 exon -3 0.974358974358974 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTGAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 973 1621 0.982549035563197 0.988117495950167 0.985333265756682 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0758691233286629 0.0018261844251074 0.997898458921805 0.946485611879797 NA 0.0388476538768852 NA FALSE NA 1 3.642 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SEL1L2 HGNC 15897 ENST00000486903 12/19 rs376944893 1 NA C:0 C:0.0001 TTA T,C 5.792e-05 20:13876040 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 missense_variant 3.842756 0.98629 0.95665 0.487112 0.998178262046424 0 2.6912869713909e-11 FALSE 7.31006e-05 ENSE00000906770_008 ENSE00000906770 008 20 13856643 13856812 - 41 78 51 G C 13856691 260 122 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGGCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876044 13876045 13876045 exon -8 0.91025641025641 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGGCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 141 142 0.78503657260925 0.828681252045414 0.806858912327332 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA -0.121643339625284 -0.157610059479645 0.997898458921805 0.946485611879797 NA -0.139626699552465 NA FALSE NA 1 7.942 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 rs529470717 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GGC G,C 8.275e-05 20:13876045 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 missense_variant 6.699293 0.99486 0.99484 0.487112 0.997984908437767 0 2.6912869713909e-11 FALSE 6.09191e-05 ENSE00000906770_010 ENSE00000906770 010 20 13856643 13856812 - 41 78 51 A G 13856702 262 111 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTCTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876055 13876056 13876056 exon -19 0.769230769230769 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTCTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 736 1218 1 0.998581447245561 0.99929072362278 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0933200877654659 0.0122901357205015 0.997898458921805 0.946485611879797 NA 0.0528051117429837 NA FALSE NA 1 1.029 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 rs201833683 1 NA G:0 G:0.0002 AAA A,G 4.965e-05 20:13876056 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 synonymous_variant 0.477363 0.96197 0.24817 0.487112 0.602542750918066 0 2.6912869713909e-11 FALSE 8.52813e-05 ENSE00000906770_011 ENSE00000906770 011 20 13856643 13856812 - 41 78 51 T C 13856709 263 104 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAGGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876062 13876063 13876063 exon -26 0.67948717948718 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAGGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 100 620 0.941648772235651 0.999744830692644 0.970696801464147 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0349688600011165 0.0134535191675844 0.997898458921805 0.946485611879797 NA 0.0242111895843505 NA FALSE NA 1 6.658 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 1 NA CTT T,C 8.276e-06 20:13876063 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 missense_variant 4.94382 0.99266 0.98155 0.487112 0.998733994641653 0 2.6912869713909e-11 FALSE 4.06098e-06 ENSE00000906770_012 ENSE00000906770 012 20 13856643 13856812 - 41 78 51 G A 13856721 264 92 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGTTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876074 13876075 13876075 exon -38 0.525641025641026 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGTTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 933 73 0.996521549491348 0.999476964589098 0.997999257040223 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0898416372568134 0.013185653064039 0.997898458921805 0.946485611879797 NA 0.0515136451604262 NA FALSE NA 0.933 2.24 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 1 NA AGC G,A 8.276e-06 20:13876075 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 missense_variant 1.396071 0.38278 0.55496 0.487112 0.969470194183541 0 2.6912869713909e-11 FALSE 4.06098e-06 ENSE00000906770_013 ENSE00000906770 013 20 13856643 13856812 - 41 78 51 C T 13856722 265 91 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACACTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876075 13876076 13876076 exon -39 0.512820512820513 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACACTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 798 292 0.999431337683313 0.98169381470713 0.990562576195221 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0927514254487787 -0.00459749681792965 0.997898458921805 0.946485611879797 NA 0.0440769643154245 NA FALSE NA 0.933 3.007 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 1 NA GCG C,T 8.276e-06 20:13876076 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 missense_variant 1.807403 0.46755 0.79118 0.487112 0.888556158126864 0 2.6912869713909e-11 FALSE 4.06098e-06 ENSE00000906770_014 ENSE00000906770 014 20 13856643 13856812 - 41 78 51 G A 13856723 266 90 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAATGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876076 13876077 13876077 exon 39 0.5 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAATGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 2401 282 0.98842352920162 0.845803787547506 0.917113658374563 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0817436169670862 -0.140487523977554 0.997898458921805 0.946485611879797 NA -0.0293719535052337 NA FALSE NA 0.268 -0.169 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 1 NA CGT G,A 3.31e-05 20:13876077 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 synonymous_variant -0.227227 0.16548 0.01082 0.487112 0.495865802316533 0 2.6912869713909e-11 FALSE 2.43659e-05 ENSE00000906770_015 ENSE00000906770 015 20 13856643 13856812 - 41 78 51 C T 13856732 267 81 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCACAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876085 13876086 13876086 exon 30 0.384615384615385 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCACAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 450 108 0.978444692140358 0.999292115939973 0.988868404040165 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0717647799058238 0.0130008044149134 0.997898458921805 0.946485611879797 NA 0.0423827921603686 NA FALSE NA 0.879 -0.176 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 COSM393471&COSM722621 1 NA GCG C,T 1.655e-05 20:13876086 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 synonymous_variant 1.025296 0.92786 0.18684 0.487112 0.554399262048539 0 2.6912869713909e-11 FALSE 8.12209e-06 ENSE00000906770_016 ENSE00000906770 016 20 13856643 13856812 - 41 78 51 C T 13856737 268 76 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCATGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876090 13876091 13876091 exon 25 0.320512820512821 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCATGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 879 402 0.995416883138461 0.963310948380595 0.979363915759528 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0887369709039268 -0.0229803631444646 0.997898458921805 0.946485611879797 NA 0.0328783038797311 NA FALSE NA 1 3.828 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:13876091 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 missense_variant 4.387429 0.98962 0.92637 0.487112 0.998731713552736 0 2.6912869713909e-11 FALSE 0.000170568 ENSE00000906770_017 ENSE00000906770 017 20 13856643 13856812 - 41 78 51 C G 13856737 269 76 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCCTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876090 13876091 13876091 exon 25 0.320512820512821 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCCTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 256 955 1 0.995070041433759 0.997535020716879 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0933200877654659 0.00877872990869955 0.997898458921805 0.946485611879797 NA 0.0510494088370827 NA FALSE NA 1 3.828 NA NA NA SEL1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEL1L2 NA NA NA ENSG00000101251 ENSE00003462972 missense_variant 3.151859 0.9883 0.87788 0.487112 0.993692461291751 0 2.6912869713909e-11 FALSE 4.06114e-06 ENSE00000906770_018 ENSE00000906770 018 20 13856643 13856812 - 41 78 51 G A 13856742 270 71 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGTTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876095 13876096 13876096 exon 20 0.256410256410256 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGTTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 849 1422 0.996503157883397 0.997143326042076 0.996823241962736 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0898232456488627 0.0108520145170165 0.997898458921805 0.946485611879797 NA 0.0503376300829396 NA FALSE NA 0.996 0.153 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 1 NA AGC G,A 1.655e-05 20:13876096 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 missense_variant 2.309901 0.97066 0.6866 0.487112 0.97426461861079 0 2.6912869713909e-11 FALSE 4.06141e-06 ENSE00000906770_020 ENSE00000906770 020 20 13856643 13856812 - 41 78 51 A G 13856744 272 69 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAACGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876097 13876098 13876098 exon 18 0.230769230769231 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAACGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 492 868 0.999916325091464 1 0.999958162545732 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.09323641285693 0.0137086884749408 0.997898458921805 0.946485611879797 NA 0.0534725506659354 NA FALSE NA 1 2.533 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 1 NA CAT A,G 8.278e-06 20:13876098 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 synonymous_variant 0.485534 0.97376 0.85716 0.487112 0.646500206478666 0 2.6912869713909e-11 FALSE 8.12242e-06 ENSE00000906770_021 ENSE00000906770 021 20 13856643 13856812 - 41 78 51 C G 13856752 273 61 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTACAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876105 13876106 13876106 exon 10 0.128205128205128 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTACAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 223 486 0.884117372435719 0.974574704506575 0.929346038471147 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA -0.0225625397988155 -0.0117166070184839 0.997898458921805 0.946485611879797 NA -0.0171395734086497 NA FALSE NA 1 6.476 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 1 NA TCT C,G 8.278e-06 20:13876106 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 missense_variant 6.438224 0.99559 0.98845 0.487112 0.998031544570239 0 2.6912869713909e-11 FALSE 4.06204e-06 ENSE00000906770_022 ENSE00000906770 022 20 13856643 13856812 - 41 78 51 T C 13856753 274 60 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTGGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876106 13876107 13876107 exon 9 0.115384615384615 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTGGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 304 434 1 0.999295392505474 0.999647696252737 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0933200877654659 0.0130040809804145 0.997898458921805 0.946485611879797 NA 0.0531620843729402 NA FALSE NA 0.997 0.182 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 12/19 1 NA CTA T,C 1.656e-05 20:13876107 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 synonymous_variant 0.286917 0.94683 0.76563 0.487112 0.681714205136124 0 2.6912869713909e-11 FALSE 8.12433e-06 ENSE00000906770_023 ENSE00000906770 023 20 13856643 13856812 - 41 78 51 T G 13856763 275 50 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTCGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876116 13876117 13876117 upstr_intron -2 -0.0196078431372549 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTCGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 315 1072 0 0.0213442238583117 0.0106721119291558 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA -0.906679912234534 -0.964947087666748 0.997898458921805 0.946485611879797 NA -0.935813499950641 NA TRUE NA 1 6.658 . splice_acceptor_variant&non_coding_transcript_variant HIGH SEL1L2 HGNC 15897 ENST00000486903 11/18 1 NA CTA T,G 8.279e-06 20:13876117 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 splice_acceptor_variant 5.096823 0.9942 0.98723 0.074388 0.995366463843684 0.96548 2.6912869713909e-11 FALSE 4.07329e-06 ENSE00000906770_024 ENSE00000906770 024 20 13856643 13856812 - 41 78 51 A G 13856764 276 49 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCCAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876117 13876118 13876118 upstr_intron -3 -0.0392156862745098 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCCAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 1412 522 0.998523758329352 0.996216369470177 0.997370063899764 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0918438460948177 0.00992505794511767 0.997898458921805 0.946485611879797 NA 0.0508844520199677 NA FALSE NA 0.003 0.21 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SEL1L2 HGNC 15897 ENST00000486903 11/18 rs376593373 1 NA G:0.0003 G:0 TAG A,G 4.967e-05 20:13876118 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 splice_region_variant -0.01314 0.23205 0.13864 0.074388 0.584445701326876 0.0978962 2.6912869713909e-11 FALSE 3.66268e-05 ENSE00000906770_025 ENSE00000906770 025 20 13856643 13856812 - 41 78 51 A T 13856771 277 42 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTATCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876124 13876125 13876125 upstr_intron -10 -0.176470588235294 TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTATCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 1106 308 0.995615361051481 0.935658714679224 0.965637037865352 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0889354488169466 -0.050632596845835 0.997898458921805 0.946485611879797 NA 0.0191514259855558 NA FALSE NA 0 0.121 . intron_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 11/18 rs368891130 1 NA T:0.0025 T:0 AAA A,T 0.0001407 20:13876125 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 intron_variant -0.205903 0.34607 0.19912 0.074388 0.486241077389411 0.0827764 2.6912869713909e-11 FALSE 0.000109966 ENSE00000906770_026 ENSE00000906770 026 20 13856643 13856812 - 41 78 51 G C 13856781 278 32 TACTCTCAAATTATTTTGTTTTTTCTATCCTGTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876134 13876135 13876135 upstr_intron -20 -0.372549019607843 TACTCTCAAATTATTTTGTTTTTTCTATCCTGTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 1581 274 0.994041854779518 1 0.997020927389759 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0873619425449843 0.0137086884749408 0.997898458921805 0.946485611879797 NA 0.0505353155099625 NA FALSE NA 0.672 1.068 . intron_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 11/18 1 NA AGA G,C 8.279e-06 20:13876135 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 intron_variant -0.430625 0.25046 0.47139 0.074388 0.423661845207405 0.0436289 2.6912869713909e-11 FALSE 4.07289e-06 ENSE00000906770_027 ENSE00000906770 027 20 13856643 13856812 - 41 78 51 A G 13856782 279 31 TACTCTCAAATTATTTTGTTTTTTCTATCCCCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 13876135 13876136 13876136 upstr_intron -21 -0.392156862745098 TACTCTCAAATTATTTTGTTTTTTCTATCCCCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT mutant NA NA NA NA NA 971 207 0.997774682944051 1 0.998887341472026 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 NA NA 0.0910947707095172 0.0137086884749408 0.997898458921805 0.946485611879797 NA 0.052401729592229 NA FALSE NA 0.239 1.77 . intron_variant&non_coding_transcript_variant MODIFIER SEL1L2 HGNC 15897 ENST00000486903 11/18 rs373986550 1 NA G:0 G:0.0001 GAG A,G 8.279e-06 20:13876136 SEL1L2 HGNC Symbol protein_coding 147196 ENSG00000101251 ENSE00003462972 intron_variant 0.099102 0.22397 0.47697 0.074388 0.369233651755968 0.0436289 2.6912869713909e-11 FALSE 4.07057e-06 ENSE00000906770_BRK ENSE00000906770 BRK 20 13856643 13856812 - 41 78 51 A,G; T,T NA NA NA TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTTTATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGCCATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT 13875996 13876166 NA NA NA NA NA NA TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTTTATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGCCATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT TACTCTCAAATTATTTTGTTTTTTCTATCCTCTTTTCATTTTTCTTCCTAGATGTATTTAGAGGGGAATGCTGCCGTGCCGCAAAATAACGCTACTGCCTTCAAGTACTTTTCCATGGCAGCCAGTAAGGTATGTCCTCAATGCACTGTTGTAAACACATACACACAAAT control 25 90 0 0 0 348 1199 0 0.0760835139144361 0.038041756957218 0.999524721856332 0.996272195987279 0.906679912234534 0.986291311525059 -0.999524721856332 -0.996272195987279 -0.906679912234534 -0.910207797610623 0.997898458921805 0.946485611879797 -0.997898458921805 -0.908443854922579 0.0894546039992266 TRUE TRUE NA NA NA NA NA SEL1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEL1L2 NA NA NA ENSG00000101251 ENSE00003462972 NA NA NA NA NA NA NA 2.6912869713909e-11 FALSE NA ENSE00000906856_000 ENSE00000906856 000 20 36953116 36953285 + 60 60 50 NA NA NA NA NA CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA 38324713 38324883 NA NA NA NA NA NA CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA natural 50 79 0.954132590679648 0.85005301076379 0.902092800721719 3624 674 0.946388556335798 0.802087223206987 0.874237889771392 0.954132590679648 0.85005301076379 0.946388556335798 0.802087223206987 0 0 0 0 0.902092800721719 0.874237889771392 0 0 0 FALSE FALSE NA NA NA NA NA CTD-2308N23.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AL359555.1 NA NA NA ENSG00000206249 ENSE00003631358 NA NA NA NA NA NA NA NA NA NA ENSE00000906993_000 ENSE00000906993 000 20 47839434 47839603 + 60 60 50 NA NA NA NA NA GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 NA NA NA NA NA NA GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT natural NA NA NA NA NA 1845 3590 0.876962529012984 0.83347053229224 0.855216530652612 NA NA 0.876962529012984 0.83347053229224 NA NA 0 0 NA 0.855216530652612 NA 0 NA FALSE NA NA NA NA NA NA DDX27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX27 NA NA NA ENSG00000124228 ENSE00003646085 NA NA NA NA NA NA NA 0.250170092340815 FALSE NA ENSE00000906993_001 ENSE00000906993 001 20 47839434 47839603 + 60 60 50 C T 47839445 1560 12 GTTCTCTTATTTGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49222907 49222908 49222908 upstr_intron -49 -0.8 GTTCTCTTATTTGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 83 558 1 0.999648089746093 0.999824044873046 NA NA 0.876962529012984 0.83347053229224 NA NA 0.123037470987016 0.166177557453853 NA 0.855216530652612 NA 0.144607514220434 NA FALSE NA 0 -1.363 . intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 2/20 1 NA TCG C,T 2.473e-05 20:49222908 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 intron_variant -0.234599 0.08421 0.01044 0.099367 0.413455701245563 0.0859986 0.250170092340815 FALSE 4.23007e-05 ENSE00000906993_006 ENSE00000906993 006 20 47839434 47839603 + 60 60 50 C T 47839474 1565 41 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACTTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49222936 49222937 49222937 upstr_intron -20 -0.316666666666667 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACTTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 127 154 1 0.980306932547958 0.990153466273979 NA NA 0.876962529012984 0.83347053229224 NA NA 0.123037470987016 0.146836400255718 NA 0.855216530652612 NA 0.134936935621367 NA FALSE NA 0 -0.229 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:49222937 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 intron_variant 0.770976 0.17388 0.07381 0.295142 0.606170041230075 0.125133 0.250170092340815 FALSE 5.50641e-05 ENSE00000906993_007 ENSE00000906993 007 20 47839434 47839603 + 60 60 50 C A 47839474 1566 41 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACATCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49222936 49222937 49222937 upstr_intron -20 -0.316666666666667 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACATCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 42 567 0.98507357287803 0.996516140141747 0.990794856509889 NA NA 0.876962529012984 0.83347053229224 NA NA 0.108111043865046 0.163045607849507 NA 0.855216530652612 NA 0.135578325857277 NA FALSE NA 0 -0.229 NA NA NA DDX27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX27 NA NA NA ENSG00000124228 ENSE00003646085 intron_variant 0.908906 0.24308 0.14249 0.295142 0.596635201496914 0.125133 0.250170092340815 FALSE 4.58867e-06 ENSE00000906993_008 ENSE00000906993 008 20 47839434 47839603 + 60 60 50 G C 47839496 1567 63 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGCGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49222958 49222959 49222959 exon 3 0.05 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGCGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 330 589 1 0.999731395956412 0.999865697978206 NA NA 0.876962529012984 0.83347053229224 NA NA 0.123037470987016 0.166260863664172 NA 0.855216530652612 NA 0.144649167325594 NA FALSE NA 1 1.349 . missense_variant&splice_region_variant MODERATE DDX27 HGNC 15837 ENST00000371764 3/21 1 tolerated(0.26) benign(0.026) NA GGG G,C 8.236e-06 20:49222959 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 missense_variant 1.468364 0.97248 0.91811 0.706548 0.981789617444563 0 0.250170092340815 FALSE NA ENSE00000906993_009 ENSE00000906993 009 20 47839434 47839603 + 60 60 50 A G 47839508 1568 75 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACGTTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49222970 49222971 49222971 exon 15 0.25 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACGTTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 34 96 1 1 1 NA NA 0.876962529012984 0.83347053229224 NA NA 0.123037470987016 0.16652946770776 NA 0.855216530652612 NA 0.144783469347388 NA FALSE NA 0.001 -1.861 . synonymous_variant LOW DDX27 HGNC 15837 ENST00000371764 3/21 1 NA CAT A,G 8.236e-06 20:49222971 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 synonymous_variant -0.222318 0.14219 0.05071 0.706548 0.470184491733949 0 0.250170092340815 FALSE 4.07521e-06 ENSE00000906993_010 ENSE00000906993 010 20 47839434 47839603 + 60 60 50 G C 47839517 1569 84 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGACAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49222979 49222980 49222980 exon 24 0.4 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGACAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 420 217 1 1 1 NA NA 0.876962529012984 0.83347053229224 NA NA 0.123037470987016 0.16652946770776 NA 0.855216530652612 NA 0.144783469347388 NA FALSE NA 1 3.374 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 3/21 1 tolerated(0.69) benign(0.005) NA AGA G,C 2.471e-05 20:49222980 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 missense_variant 2.185751 0.97902 0.97542 0.719381 0.973315278366649 0 0.250170092340815 FALSE 2.03769e-05 ENSE00000906993_011 ENSE00000906993 011 20 47839434 47839603 + 60 60 50 G A 47839526 1570 93 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAAAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49222988 49222989 49222989 exon -28 0.55 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAAAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 1214 37 0.91643084367169 1 0.958215421835845 NA NA 0.876962529012984 0.83347053229224 NA NA 0.0394683146587061 0.16652946770776 NA 0.855216530652612 NA 0.102998891183233 NA FALSE NA 1 2.436 . synonymous_variant LOW DDX27 HGNC 15837 ENST00000371764 3/21 1 NA AGA G,A 8.236e-06 20:49222989 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 synonymous_variant 1.263267 0.98534 0.95361 0.719381 0.63918186172868 0 0.250170092340815 FALSE 1.22177e-05 ENSE00000906993_014 ENSE00000906993 014 20 47839434 47839603 + 60 60 50 A G 47839541 1573 108 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAGAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49223003 49223004 49223004 exon -13 0.8 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAGAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 59 582 1 0.966669779277519 0.983334889638759 NA NA 0.876962529012984 0.83347053229224 NA NA 0.123037470987016 0.13319924698528 NA 0.855216530652612 NA 0.128118358986148 NA FALSE NA 1 1.181 . synonymous_variant LOW DDX27 HGNC 15837 ENST00000371764 3/21 1 NA AAA A,G 1.647e-05 20:49223004 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 synonymous_variant 0.064063 0.9539 0.82062 0.719381 0.576864392942225 0 0.250170092340815 FALSE 8.13405e-06 ENSE00000906993_018 ENSE00000906993 018 20 47839434 47839603 + 60 60 50 G A 47839568 1577 135 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTAGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49223030 49223031 49223031 downstr_intron 15 1.30612244897959 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTAGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 706 147 0.987612755771845 1 0.993806377885923 NA NA 0.876962529012984 0.83347053229224 NA NA 0.110650226758861 0.16652946770776 NA 0.855216530652612 NA 0.138589847233311 NA FALSE NA 0 -3.018 rs187861096 intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 3/20 rs187861096 1 A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 A:0 A:0.0001 TGG G,A 4.942e-05 20:49223031 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 intron_variant -0.05964 0.14914 0.00549 0.093477 0.445474103570448 0.0525588 0.250170092340815 FALSE 8.59247e-05 ENSE00000906993_019 ENSE00000906993 019 20 47839434 47839603 + 60 60 50 A G 47839572 1578 139 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTGTTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49223034 49223035 49223035 downstr_intron 19 1.38775510204082 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTGTTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 273 2756 0.992539240011137 0.99807626383713 0.995307751924133 NA NA 0.876962529012984 0.83347053229224 NA NA 0.115576710998153 0.16460573154489 NA 0.855216530652612 NA 0.140091221271522 NA FALSE NA 0 -1.553 . intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 3/20 1 NA TAT A,G 3.295e-05 20:49223035 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 intron_variant -0.081098 0.16512 0.04158 0.093477 0.278625167534508 0.0683663 0.250170092340815 FALSE 1.6433e-05 ENSE00000906993_020 ENSE00000906993 020 20 47839434 47839603 + 60 60 50 T C 47839573 1579 140 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTACTTTTCGTTGTTAGGGCCCACTCTTTACTCT 49222896 49223066 49223035 49223036 49223036 downstr_intron 20 1.40816326530612 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTACTTTTCGTTGTTAGGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 402 229 1 0.999164712407349 0.999582356203674 NA NA 0.876962529012984 0.83347053229224 NA NA 0.123037470987016 0.165694180115109 NA 0.855216530652612 NA 0.144365825551062 NA FALSE NA 0 -0.174 . intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 3/20 1 NA ATT T,C 8.237e-06 20:49223036 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 intron_variant -0.307317 0.17448 0.03274 0.093477 0.297082844635638 0.0683663 0.250170092340815 FALSE NA ENSE00000906993_022 ENSE00000906993 022 20 47839434 47839603 + 60 60 50 G T 47839586 1581 153 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTATGGCCCACTCTTTACTCT 49222896 49223066 49223048 49223049 49223049 downstr_intron 33 1.6734693877551 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTATGGCCCACTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 61 951 0.999323394012124 0.999833663109276 0.9995785285607 NA NA 0.876962529012984 0.83347053229224 NA NA 0.122360864999139 0.166363130817036 NA 0.855216530652612 NA 0.144361997908088 NA FALSE NA 0 -1.222 . intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 3/20 1 NA AGG G,T 1.647e-05 20:49223049 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 intron_variant -0.324995 0.11703 0.0089 0.093477 0.548133440138415 0.0683663 0.250170092340815 FALSE 8.26439e-06 ENSE00000906993_024 ENSE00000906993 024 20 47839434 47839603 + 60 60 50 A G 47839592 1583 159 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCGCTCTTTACTCT 49222896 49223066 49223054 49223055 49223055 downstr_intron 39 1.79591836734694 GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCGCTCTTTACTCT GTTCTCTTATTCGATGTTTCAATGAAAATTTCTTTTTCACCTCTTTATTTTTATCTGCAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGTGAGAAGAAAAGTGGCTATTTTTCGTTGTTAGGGCCCACTCTTTACTCT mutant NA NA NA NA NA 18 317 1 1 1 NA NA 0.876962529012984 0.83347053229224 NA NA 0.123037470987016 0.16652946770776 NA 0.855216530652612 NA 0.144783469347388 NA FALSE NA 0 -0.922 . intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 3/20 1 NA CAC A,G 4.942e-05 20:49223055 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003646085 intron_variant 0.296195 0.10509 0.00443 0.093477 0.2033257872227 0.0683663 0.250170092340815 FALSE 3.7666e-05 ENSE00000906996_000 ENSE00000906996 000 20 47841603 47841772 + 47 87 36 NA NA NA NA NA GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 NA NA NA NA NA NA GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG natural 45 45 0.997266343531886 0.997248029804841 0.997257186668364 4970 4820 0.989745871224128 0.891500301255591 0.94062308623986 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 0 0 0 0 0.997257186668364 0.94062308623986 0 0 0 FALSE FALSE NA NA NA NA NA DDX27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX27 NA NA NA ENSG00000124228 ENSE00003460352 NA NA NA NA NA NA NA 0.250170092340815 FALSE NA ENSE00000906996_001 ENSE00000906996 001 20 47841603 47841772 + 47 87 36 C A 47841621 1584 19 GGCTCTTTTTGTTGAATTATCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225083 49225084 49225084 upstr_intron -29 -0.595744680851064 GGCTCTTTTTGTTGAATTATCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 1307 2030 0.997801737895055 0.963625638410959 0.980713688153007 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.0080558666709265 0.072125337155368 0.997257186668364 0.94062308623986 NA 0.0400906019131472 NA FALSE NA 0.053 0.382 . intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 5/20 1 NA TCT C,A 1.647e-05 20:49225084 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 intron_variant 0.611845 0.47584 0.4999 0.359288 0.692952816989843 0.567372 0.250170092340815 FALSE 2.03125e-05 ENSE00000906996_002 ENSE00000906996 002 20 47841603 47841772 + 47 87 36 C T 47841623 1585 21 GGCTCTTTTTGTTGAATTCTTTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225085 49225086 49225086 upstr_intron -27 -0.553191489361702 GGCTCTTTTTGTTGAATTCTTTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 562 2356 0.906466725986195 0.996875598260568 0.951671162123381 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA -0.0832791452379332 0.105375297004977 0.997257186668364 0.94062308623986 NA 0.0110480758835217 NA FALSE NA 0 -1.3 . intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 5/20 1 NA TCT C,T 8.236e-06 20:49225086 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 intron_variant 0.408046 0.12715 0.0503 0.359288 0.763668237709958 0.0508423 0.250170092340815 FALSE 4.06204e-06 ENSE00000906996_003 ENSE00000906996 003 20 47841603 47841772 + 47 87 36 G A 47841644 1586 42 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGATGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225106 49225107 49225107 upstr_intron -6 -0.106382978723404 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGATGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 399 2152 0.975824436487011 0.998012554058842 0.986918495272927 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA -0.0139214347371178 0.106512252803251 0.997257186668364 0.94062308623986 NA 0.0462954090330668 NA FALSE NA 0 -0.263 . splice_region_variant&intron_variant LOW DDX27 HGNC 15837 ENST00000371764 5/20 1 NA GGT G,A 1.647e-05 20:49225107 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 splice_region_variant 0.089155 0.19855 0.32752 0.359288 0.474752681697019 0.0981605 0.250170092340815 FALSE 1.21822e-05 ENSE00000906996_004 ENSE00000906996 004 20 47841603 47841772 + 47 87 36 G A 47841650 1587 48 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGAAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225112 49225113 49225113 exon 1 0.0114942528735632 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGAAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 1207 377 0.970680593948004 0.965244523105997 0.967962558527001 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA -0.0190652772761245 0.0737442218504061 0.997257186668364 0.94062308623986 NA 0.0273394722871408 NA FALSE NA 1 4.9 rs151239397 missense_variant&splice_region_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 rs151239397 1 tolerated(0.17) benign(0.004) A:0.0076 A:0.028 A:0.0014 NA A:0 A:0 A:0 A:0.0309 A:0 GGA G,A 0.002734 20:49225113 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 3.053016 0.9933 0.99102 0.719381 0.997785729957504 0 0.250170092340815 FALSE 0.00203034 ENSE00000906996_006 ENSE00000906996 006 20 47841603 47841772 + 47 87 36 A G 47841655 1589 53 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCGGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225117 49225118 49225118 exon 6 0.0689655172413793 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCGGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 750 962 0.995473991719819 0.930563146643417 0.963018569181618 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.00572812049569071 0.0390628453878262 0.997257186668364 0.94062308623986 NA 0.0223954829417585 NA FALSE NA 0.958 0.57 . synonymous_variant LOW DDX27 HGNC 15837 ENST00000371764 6/21 1 NA CAG A,G 8.236e-06 20:49225118 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 synonymous_variant 0.391191 0.51213 0.84996 0.719381 0.445757304397058 0 0.250170092340815 FALSE NA ENSE00000906996_008 ENSE00000906996 008 20 47841603 47841772 + 47 87 36 G T 47841660 1591 58 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGTATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225122 49225123 49225123 exon 11 0.126436781609195 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGTATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 149 927 0.996921629965006 0.999588403820508 0.998255016892757 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.0071757587408775 0.108088102564917 0.997257186668364 0.94062308623986 NA 0.0576319306528972 NA FALSE NA 1 3.43 rs11553387 missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 COSM3758614 1 tolerated(0.18) benign(0.115) NA GGA G,T 0.176 20:49225123 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 2.10084 0.98743 0.96488 0.719381 0.970080132246522 0 0.250170092340815 FALSE 0.174495 ENSE00000906996_009 ENSE00000906996 009 20 47841603 47841772 + 47 87 36 T A 47841662 1592 60 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGAATTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225124 49225125 49225125 exon 13 0.149425287356322 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGAATTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 1162 325 0.959100736272609 0.999513066260187 0.979306901266398 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA -0.030645134951519 0.108012765004596 0.997257186668364 0.94062308623986 NA 0.0386838150265383 NA FALSE NA 1 5.929 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 deleterious(0.05) probably_damaging(0.94) NA ATT T,A 0.0002883 20:49225125 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 5.212686 0.98617 0.98807 0.719381 0.987431728129081 0 0.250170092340815 FALSE 0.000263947 ENSE00000906996_010 ENSE00000906996 010 20 47841603 47841772 + 47 87 36 C G 47841678 1593 76 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATGTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225140 49225141 49225141 exon 29 0.333333333333333 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATGTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 95 252 0.996034805419369 0.998475363713873 0.997255084566621 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.00628893419524024 0.106975062458282 0.997257186668364 0.94062308623986 NA 0.0566319983267613 NA FALSE NA 1 7.413 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 deleterious(0.02) possibly_damaging(0.864) NA TCT C,G 8.236e-06 20:49225141 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 4.72726 0.99381 0.99502 0.719381 0.988749260801002 0 0.250170092340815 FALSE 8.12156e-06 ENSE00000906996_011 ENSE00000906996 011 20 47841603 47841772 + 47 87 36 A G 47841681 1594 79 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCGGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225143 49225144 49225144 exon 32 0.367816091954023 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCGGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 247 901 1 0.99724822806526 0.99862411403263 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.0102541287758715 0.105747926809669 0.997257186668364 0.94062308623986 NA 0.0580010277927701 NA FALSE NA 1 6.866 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 tolerated(0.43) benign(0.002) NA CAG A,G 8.236e-06 20:49225144 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 0.414231 0.9859 0.98812 0.719381 0.794886111764896 0 0.250170092340815 FALSE 4.06072e-06 ENSE00000906996_013 ENSE00000906996 013 20 47841603 47841772 + 47 87 36 C T 47841685 1596 83 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTATGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225147 49225148 49225148 exon 36 0.413793103448276 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTATGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 505 66 0.996290862987335 1 0.998145431493667 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.00654499176320622 0.108499698744409 0.997257186668364 0.94062308623986 NA 0.0575223452538076 NA FALSE NA 0.973 0.062 rs189389537 synonymous_variant LOW DDX27 HGNC 15837 ENST00000371764 6/21 rs189389537 1 T:0.0008 T:0 T:0.0029 NA T:0 T:0.002 T:0 T:0 T:0.0002 ACG C,T 0.0003459 20:49225148 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 synonymous_variant 0.218175 0.90754 0.43082 0.719381 0.187431874389872 0 0.250170092340815 FALSE 0.000292369 ENSE00000906996_014 ENSE00000906996 014 20 47841603 47841772 + 47 87 36 G A 47841686 1597 84 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACAATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225148 49225149 49225149 exon 37 0.425287356321839 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACAATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 120 451 0.989610378393297 0.999564515805042 0.99458744709917 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA -0.00013549283083103 0.108064214549451 0.997257186668364 0.94062308623986 NA 0.05396436085931 NA FALSE NA 1 5.247 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 tolerated(0.27) benign(0.027) NA CGA G,A 8.236e-06 20:49225149 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 2.085132 0.98372 0.97847 0.719381 0.940455985892276 0 0.250170092340815 FALSE 2.03039e-05 ENSE00000906996_015 ENSE00000906996 015 20 47841603 47841772 + 47 87 36 C T 47841695 1598 93 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACTTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225157 49225158 49225158 exon -42 0.528735632183908 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACTTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 479 15 0.999483365418962 1 0.999741682709481 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.00973749419483372 0.108499698744409 0.997257186668364 0.94062308623986 NA 0.0591185964696214 NA FALSE NA 0.998 3.515 rs140445736 missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 rs140445736&COSM1736244 1 deleterious(0.02) possibly_damaging(0.901) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 CCT C,T 6.589e-05 20:49225158 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 3.18219 0.98426 0.94133 0.719381 0.997691115778549 0 0.250170092340815 FALSE 4.87282e-05 ENSE00000906996_016 ENSE00000906996 016 20 47841603 47841772 + 47 87 36 C T 47841697 1599 95 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTTTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225159 49225160 49225160 exon -40 0.551724137931034 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTTTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 439 347 0.998155299065239 1 0.999077649532619 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.00840942784111021 0.108499698744409 0.997257186668364 0.94062308623986 NA 0.0584545632927596 NA FALSE NA 1 0.925 . synonymous_variant LOW DDX27 HGNC 15837 ENST00000371764 6/21 COSM419353 1 NA TCT C,T 2.471e-05 20:49225160 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 synonymous_variant 0.324648 0.93401 0.86488 0.719381 0.373798738847931 0 0.250170092340815 FALSE 2.03034e-05 ENSE00000906996_019 ENSE00000906996 019 20 47841603 47841772 + 47 87 36 G A 47841706 1602 104 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAAGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225168 49225169 49225169 exon -31 0.655172413793103 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAAGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 70 486 0.997803556350165 0.999921655631744 0.998862605990955 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.008057685126037 0.108421354376153 0.997257186668364 0.94062308623986 NA 0.058239519751095 NA FALSE NA 1 2.778 rs61748377 synonymous_variant LOW DDX27 HGNC 15837 ENST00000371764 6/21 rs61748377 1 A:0.0012 A:0 A:0.0014 NA A:0 A:0.005 A:0 A:0.0018 A:0.0059 AGG G,A 0.004324 20:49225169 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 synonymous_variant 0.344573 0.98364 0.95955 0.719381 0.67114508153804 0 0.250170092340815 FALSE 0.00449539 ENSE00000906996_020 ENSE00000906996 020 20 47841603 47841772 + 47 87 36 A G 47841710 1603 108 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACGTGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225172 49225173 49225173 exon -27 0.701149425287356 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACGTGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 1130 197 0.960106665959768 1 0.980053332979884 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA -0.0296392052643604 0.108499698744409 0.997257186668364 0.94062308623986 NA 0.0394302467400243 NA FALSE NA 1 8.856 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 deleterious(0) possibly_damaging(0.688) NA CAT A,G 1.647e-05 20:49225173 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 3.900057 0.98586 0.9938 0.719381 0.989004436475237 0 0.250170092340815 FALSE 2.03042e-05 ENSE00000906996_021 ENSE00000906996 021 20 47841603 47841772 + 47 87 36 A C 47841713 1604 111 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGCACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225175 49225176 49225176 exon -24 0.735632183908046 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGCACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 1031 485 0.998755990179835 1 0.999377995089918 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.00901011895570658 0.108499698744409 0.997257186668364 0.94062308623986 NA 0.0587549088500578 NA FALSE NA 1 8.856 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 deleterious(0) probably_damaging(0.99) NA GAA A,C 2.471e-05 20:49225176 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 5.179552 0.99183 0.99611 0.719381 0.997045696929246 0 0.250170092340815 FALSE 1.62441e-05 ENSE00000906996_022 ENSE00000906996 022 20 47841603 47841772 + 47 87 36 C G 47841715 1605 113 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAAGCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225177 49225178 49225178 exon -22 0.758620689655172 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAAGCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 89 99 1 0.9952495297265 0.99762476486325 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.0102541287758715 0.10374922847091 0.997257186668364 0.94062308623986 NA 0.0570016786233905 NA FALSE NA 0.99 0.288 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 deleterious(0) probably_damaging(0.926) NA ACC C,G 8.236e-06 20:49225178 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 5.808858 0.97871 0.9572 0.719381 0.998372406646122 0 0.250170092340815 FALSE 1.21831e-05 ENSE00000906996_023 ENSE00000906996 023 20 47841603 47841772 + 47 87 36 T A 47841717 1606 115 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCATTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225179 49225180 49225180 exon -20 0.781609195402299 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCATTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 87 601 1 0.97893494067389 0.989467470336945 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.0102541287758715 0.087434639418299 0.997257186668364 0.94062308623986 NA 0.0488443840970852 NA FALSE NA 1 7.623 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 deleterious(0) probably_damaging(0.997) NA CTT T,A 4.118e-05 20:49225180 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 6.360603 0.99155 0.9937 0.719381 0.9802272018279 0 0.250170092340815 FALSE 2.03059e-05 ENSE00000906996_024 ENSE00000906996 024 20 47841603 47841772 + 47 87 36 C T 47841722 1607 120 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCTGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225184 49225185 49225185 exon -15 0.839080459770115 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCTGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 119 58 0.999653659413853 1 0.999826829706927 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.00990778818972482 0.108499698744409 0.997257186668364 0.94062308623986 NA 0.0592037434670669 NA FALSE NA 1 2.127 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 COSM577837 1 deleterious(0) probably_damaging(0.999) NA CCG C,T 8.236e-06 20:49225185 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 7.959803 0.98402 0.96272 0.719381 0.999439427038313 0 0.250170092340815 FALSE 8.12242e-06 ENSE00000906996_025 ENSE00000906996 025 20 47841603 47841772 + 47 87 36 C G 47841726 1608 124 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCGTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 49225188 49225189 49225189 exon -11 0.885057471264368 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCGTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 73 601 1 1 1 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.0102541287758715 0.108499698744409 0.997257186668364 0.94062308623986 NA 0.0593769137601403 NA FALSE NA 1 7.413 . missense_variant MODERATE DDX27 HGNC 15837 ENST00000371764 6/21 1 deleterious(0) probably_damaging(0.989) NA CCT C,G 8.236e-06 20:49225189 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 missense_variant 6.442923 0.9938 0.99502 0.719381 0.998555742309673 0 0.250170092340815 FALSE 4.06138e-06 ENSE00000906996_026 ENSE00000906996 026 20 47841603 47841772 + 47 87 36 A G 47841754 1609 152 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAGAAATTTTCTTTGTAGAAG 49225065 49225235 49225216 49225217 49225217 downstr_intron 18 1.51428571428571 GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAGAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG mutant NA NA NA NA NA 34 766 1 0.998140297367823 0.999070148683912 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 NA NA 0.0102541287758715 0.106639996112232 0.997257186668364 0.94062308623986 NA 0.0584470624440518 NA FALSE NA 0.013 0.158 . intron_variant MODIFIER DDX27 HGNC 15837 ENST00000371764 6/20 rs375795377 1 NA G:0 G:0.0001 AAA A,G 8.236e-06 20:49225217 DDX27 HGNC Symbol protein_coding 24782 ENSG00000124228 ENSE00003460352 intron_variant 0.343909 0.53149 0.04667 0.093477 0.338239901070501 0.0499903 0.250170092340815 FALSE 8.14173e-06 ENSE00000906996_BRK ENSE00000906996 BRK 20 47841603 47841772 + 47 87 36 A,G; T,T NA NA NA GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTTTGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGCCAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG 49225065 49225235 NA NA NA NA NA NA GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTTTGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGCCAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG GGCTCTTTTTGTTGAATTCTCTTCTCTCTTTTGGTTTTCTGGTGTAGGAAGCAGGAGGATTTTTTGAAGATGCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGTAGCAGCTTCTTGTCAAAAATTTTCTTTGTAGAAG control 25 41 0 0 0 1215 34 0.00198210255763325 0.0150831775949979 0.00853264007631557 0.997266343531886 0.997248029804841 0.989745871224128 0.891500301255591 -0.997266343531886 -0.997248029804841 -0.987763768666495 -0.876417123660593 0.997257186668364 0.94062308623986 -0.997257186668364 -0.932090446163544 0.0651667405048195 TRUE TRUE NA NA NA NA NA DDX27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX27 NA NA NA ENSG00000124228 ENSE00003460352 NA NA NA NA NA NA NA 0.250170092340815 FALSE NA ENSE00000907050_000 ENSE00000907050 000 20 55940365 55940534 + 47 87 36 NA NA NA NA NA AGTTGTGCCTAGCCTTTCTGCAGAGGCTTCTGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTTATCACACGATGCCGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 NA NA NA NA NA NA AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT natural NA NA NA NA NA 3964 2307 0.955159496935713 0.950150670494207 0.95265508371496 NA NA 0.955159496935713 0.950150670494207 NA NA 0 0 NA 0.95265508371496 NA 0 NA FALSE NA NA NA NA NA NA RAE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAE1 NA NA NA ENSG00000101146 ENSE00000907050 NA NA NA NA NA NA NA 0.991169300003019 TRUE NA ENSE00000907050_005 ENSE00000907050 005 20 55940365 55940534 + 47 87 36 C T 55940431 1821 67 AGTTGTGCCTAGCCTTTCTGCAGAGGCTTCTGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTTATCACACGATGCCATAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365374 57365375 57365375 exon 20 0.229885057471264 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTATGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 10 125 0.995810548949701 0.99618520494023 0.995997876944965 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0406510520139873 0.046034534446023 NA 0.95265508371496 NA 0.0433427932300052 NA FALSE NA 1 5.476 . missense_variant MODERATE RAE1 HGNC 9828 ENST00000429339 5/6 COSM1028350 1 tolerated(0.18) possibly_damaging(0.517) NA ACG C,T 1.647e-05 20:57365375 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 missense_variant 4.850264 0.99375 0.98104 0.732398 0.991433574067345 0 0.991169300003019 TRUE NA ENSE00000907050_006 ENSE00000907050 006 20 55940365 55940534 + 47 87 36 G A 55940432 1822 68 AGTTGTGCCTAGCCTTTCTGCAGAGGCTTCTGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTTATCACACGATGCTGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365375 57365376 57365376 exon 21 0.241379310344828 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACAGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 199 30 0.994351456927622 1 0.997175728463811 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0391919599919089 0.0498493295057931 NA 0.95265508371496 NA 0.044520644748851 NA FALSE NA 0.614 -0.197 rs141168967 synonymous_variant LOW RAE1 HGNC 9828 ENST00000429339 5/6 rs141168967 1 A:0.0008 A:0.0015 A:0 NA A:0.001 A:0 A:0.001 A:0.0005 A:0 CGG G,A 0.0002718 20:57365376 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 synonymous_variant 0.853246 0.70877 0.21039 0.732398 0.6621561170433 0 0.991169300003019 TRUE 0.000207939 ENSE00000907050_008 ENSE00000907050 008 20 55940365 55940534 + 47 87 36 G A 55940438 1824 74 AGTTGTGCCTAGCCTTTCTGCAGAGGCTTCTGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTTATCACATGATGCCGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365381 57365382 57365382 exon 27 0.310344827586207 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCATGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 400 358 0.999897071345847 0.99518117563994 0.997539123492894 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0447375744101338 0.0450305051457334 NA 0.95265508371496 NA 0.0448840397779336 NA FALSE NA 0 -4.223 . synonymous_variant LOW RAE1 HGNC 9828 ENST00000429339 5/6 1 NA CGT G,A 2.471e-05 20:57365382 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 synonymous_variant 0.592058 0.14225 0.03365 0.732398 0.533613795097238 0 0.991169300003019 TRUE 2.03829e-05 ENSE00000907050_009 ENSE00000907050 009 20 55940365 55940534 + 47 87 36 A G 55940445 1825 81 AGTTGTGCCTAGCCTTTCTGCAGAGGCTTCTGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTCATCACACGATGCCGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365388 57365389 57365389 exon 34 0.390804597701149 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATGAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 90 104 1 0.987635480263743 0.993817740131872 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0448405030642868 0.0374848097695364 NA 0.95265508371496 NA 0.0411626564169116 NA FALSE NA 1 8.613 . missense_variant MODERATE RAE1 HGNC 9828 ENST00000429339 5/6 1 deleterious(0.01) possibly_damaging(0.539) NA TAA A,G 8.236e-06 20:57365389 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 missense_variant 5.636912 0.99203 0.99223 0.732398 0.998375937273023 0 0.991169300003019 TRUE 4.07418e-06 ENSE00000907050_010 ENSE00000907050 010 20 55940365 55940534 + 47 87 36 C T 55940465 1826 101 AGTTGTGCCTAGCCTTTCTGCAGAGGCTTCTGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGATCCCACATTTTGGCAGTTTTATCACACGATGCCGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365408 57365409 57365409 exon -34 0.620689655172414 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGATCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 544 239 1 0.997902723639805 0.998951361819903 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0448405030642868 0.0477520531455985 NA 0.95265508371496 NA 0.0462962781049426 NA FALSE NA 1 2.854 rs138156490 synonymous_variant LOW RAE1 HGNC 9828 ENST00000429339 5/6 rs138156490 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0005 ACC C,T 0.0001235 20:57365409 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 synonymous_variant 1.689198 0.97682 0.82529 0.732398 0.527047909919116 0 0.991169300003019 TRUE 0.000142592 ENSE00000907050_013 ENSE00000907050 013 20 55940365 55940534 + 47 87 36 A G 55940486 1829 122 AGTTGTGCCTAGCCTTTCTGCAGAGGCTTCTGTTACCTGTGCGATCTGCATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTTATCACACGATGCCGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365429 57365430 57365430 exon -13 0.862068965517241 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATGCAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 79 181 1 1 1 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0448405030642868 0.0498493295057931 NA 0.95265508371496 NA 0.04734491628504 NA FALSE NA 0.915 0.001 . missense_variant MODERATE RAE1 HGNC 9828 ENST00000429339 5/6 1 tolerated(0.33) benign(0.007) NA TAC A,G 3.295e-05 20:57365430 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 missense_variant 0.63427 0.94426 0.75009 0.732398 0.417811013287938 0 0.991169300003019 TRUE 2.86425e-05 ENSE00000907050_016 ENSE00000907050 016 20 55940365 55940534 + 47 87 36 A T 55940504 1832 140 AGTTGTGCCTAGCCTTTCTGCAGAGGCTTCAGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTTATCACACGATGCCGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365447 57365448 57365448 downstr_intron 6 1.17142857142857 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACTGAAGCCTCTGCAGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 94 54 0.996894477885596 0.950043059579032 0.973468768732314 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0417349809498827 -0.000107610915175083 NA 0.95265508371496 NA 0.0208136850173538 NA FALSE NA 0 -1.407 . splice_region_variant&intron_variant LOW RAE1 HGNC 9828 ENST00000429339 5/5 1 NA CAG A,T 1.647e-05 20:57365448 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 splice_region_variant -0.457669 0.2024 0.11453 0.106106 0.408762939551311 0.213592 0.991169300003019 TRUE 8.37156e-06 ENSE00000907050_017 ENSE00000907050 017 20 55940365 55940534 + 47 87 36 A G 55940516 1833 152 AGTTGTGCCTAGCCTTTCCGCAGAGGCTTCTGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTTATCACACGATGCCGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365459 57365460 57365460 downstr_intron 18 1.51428571428571 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCGGAAAGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 341 348 0.991810137681216 1 0.995905068840608 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0366506407455023 0.0498493295057931 NA 0.95265508371496 NA 0.0432499851256477 NA FALSE NA 0.001 0.944 . intron_variant MODIFIER RAE1 HGNC 9828 ENST00000429339 5/5 1 NA CAG A,G 8.236e-06 20:57365460 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 intron_variant -0.026852 0.14699 0.04083 0.106106 0.388981693976068 0.0918324 0.991169300003019 TRUE 4.29694e-06 ENSE00000907050_018 ENSE00000907050 018 20 55940365 55940534 + 47 87 36 A G 55940520 1834 156 AGTTGTGCCTAGCCCTTCTGCAGAGGCTTCTGTTACCTGTGCGATCTGTATCGCTTGGTTACTGCTGAGGTCCCACATTTTGGCAGTTTTATCACACGATGCCGTAAACACTTTGCTCCCATCCTAAAATAAAATGGAGAAAATTTTGCATTTTAAGAAAAATTAAATCT 57365308 57365478 57365463 57365464 57365464 downstr_intron 22 1.62857142857143 AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAGGGCTAGGCACAACT AGATTTAATTTTTCTTAAAATGCAAAATTTTCTCCATTTTATTTTAGGATGGGAGCAAAGTGTTTACGGCATCGTGTGATAAAACTGCCAAAATGTGGGACCTCAGCAGTAACCAAGCGATACAGATCGCACAGGTAACAGAAGCCTCTGCAGAAAGGCTAGGCACAACT mutant NA NA NA NA NA 122 186 1 1 1 NA NA 0.955159496935713 0.950150670494207 NA NA 0.0448405030642868 0.0498493295057931 NA 0.95265508371496 NA 0.04734491628504 NA FALSE NA 0 -1.775 . intron_variant MODIFIER RAE1 HGNC 9828 ENST00000429339 5/5 rs376172034 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 G:0 G:0.0001 AAG A,G 0.0001235 20:57365464 RAE1 HGNC Symbol protein_coding 28201 ENSG00000101146 ENSE00000907050 intron_variant -0.101982 0.1229 0.02401 0.106106 0.386250679747457 0.050142 0.991169300003019 TRUE 0.000125396 ENSE00000907705_000 ENSE00000907705 000 10 5140943 5141112 + 51 78 41 NA NA NA NA NA TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 NA NA NA NA NA NA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA natural NA NA NA NA NA 2123 2977 0.83011827083949 0.957220903853499 0.893669587346495 NA NA 0.83011827083949 0.957220903853499 NA NA 0 0 NA 0.893669587346495 NA 0 NA FALSE NA NA NA NA NA NA AKR1C3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AKR1C3 NA NA NA ENSG00000196139 ENSE00003794241 NA NA NA NA NA NA NA 1.07139398635711e-11 FALSE NA ENSE00000907705_004 ENSE00000907705 004 10 5140943 5141112 + 51 78 41 T C 5140962 189 20 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCGCAAATTAATTTCTCCACTC 5098750 5098920 5098769 5098770 5098770 upstr_intron -32 -0.607843137254902 GAGTGGAGAAATTAATTTGCGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 266 346 0.999423412357513 0.999889933698566 0.99965667302804 NA NA 0.83011827083949 0.957220903853499 NA NA 0.169305141518023 0.0426690298450673 NA 0.893669587346495 NA 0.105987085681545 NA FALSE NA 0.001 1.969 . intron_variant MODIFIER AKR1C3 HGNC 386 ENST00000380554 3/8 1 NA GTG T,C 2.471e-05 10:5098770 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 intron_variant 0.405703 0.10064 0.03178 0.053691 0.801933808586453 0.0481801 1.07139398635711e-11 FALSE 1.63944e-05 ENSE00000907705_005 ENSE00000907705 005 10 5140943 5141112 + 51 78 41 T C 5140980 190 38 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAGCGGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098787 5098788 5098788 upstr_intron -14 -0.254901960784314 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACCGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant 20 17 0.85 0.85 0.85 40 74 1 0.803906128303022 0.901953064151511 NA NA 0.83011827083949 0.957220903853499 NA NA 0.16988172916051 -0.153314775550477 NA 0.893669587346495 NA 0.00828347680501629 NA FALSE NA 0.005 1.936 rs34140485 intron_variant MODIFIER AKR1C3 HGNC 386 ENST00000380554 3/8 1 NA CTG T,C 0.053 10:5098788 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 intron_variant 1.245121 0.17204 0.02021 0.053691 0.89958861931597 0.0829681 1.07139398635711e-11 FALSE 0.0534328 ENSE00000907705_007 ENSE00000907705 007 10 5140943 5141112 + 51 78 41 C T 5140982 192 40 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAACAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098789 5098790 5098790 upstr_intron -12 -0.215686274509804 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGTTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant 48 30 0.979126694806191 0.997129130583113 0.988127912694652 NA NA NA NA NA NA NA 0.83011827083949 0.957220903853499 NA NA NA NA NA 0.893669587346495 NA NA NA NA NA 0 -0.308 . intron_variant MODIFIER AKR1C3 HGNC 386 ENST00000380554 3/8 1 NA GCT C,T 3.295e-05 10:5098790 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 intron_variant 1.331617 0.16319 0.00653 0.053691 0.792941464447742 0.0481801 1.07139398635711e-11 FALSE 2.4487e-05 ENSE00000907705_009 ENSE00000907705 009 10 5140943 5141112 + 51 78 41 C T 5140995 194 53 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTAGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098802 5098803 5098803 exon 2 0.0256410256410256 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCTAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 229 227 1 1 1 NA NA 0.83011827083949 0.957220903853499 NA NA 0.16988172916051 0.0427790961465008 NA 0.893669587346495 NA 0.106330412653505 NA FALSE NA 1 4.346 . missense_variant&splice_region_variant MODERATE AKR1C3 HGNC 386 ENST00000380554 4/9 1 deleterious(0.01) benign(0.126) NA CCA C,T 8.236e-06 10:5098803 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 missense_variant 3.07899 0.97368 0.92136 0.706298 0.993220885203058 0 1.07139398635711e-11 FALSE 2.85458e-05 ENSE00000907705_011 ENSE00000907705 011 10 5140943 5141112 + 51 78 41 T C 5141007 196 65 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAGGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098814 5098815 5098815 exon 14 0.179487179487179 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACCTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 420 444 1 0.996137181631364 0.998068590815682 NA NA 0.83011827083949 0.957220903853499 NA NA 0.16988172916051 0.038916277777865 NA 0.893669587346495 NA 0.104399003469187 NA FALSE NA 0.003 0.498 rs143086735 missense_variant MODERATE AKR1C3 HGNC 386 ENST00000380554 4/9 1 tolerated(0.16) benign(0.029) NA CTT T,C 0.0002883 10:5098815 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 missense_variant -0.096712 0.12746 0.05928 0.706298 0.414201449241668 0 1.07139398635711e-11 FALSE 0.000305706 ENSE00000907705_012 ENSE00000907705 012 10 5140943 5141112 + 51 78 41 T C 5141009 197 67 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGGAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098816 5098817 5098817 exon 16 0.205128205128205 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTCCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 120 288 1 1 1 NA NA 0.83011827083949 0.957220903853499 NA NA 0.16988172916051 0.0427790961465008 NA 0.893669587346495 NA 0.106330412653505 NA FALSE NA 0 -0.935 . missense_variant MODERATE AKR1C3 HGNC 386 ENST00000380554 4/9 1 deleterious(0.01) benign(0.038) NA TTC T,C 8.236e-06 10:5098817 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 missense_variant 0.752636 0.15205 0.01245 0.706298 0.598355036517409 0 1.07139398635711e-11 FALSE 4.07305e-06 ENSE00000907705_013 ENSE00000907705 013 10 5140943 5141112 + 51 78 41 C T 5141010 198 68 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTAAAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098817 5098818 5098818 exon 17 0.217948717948718 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTTACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 24 1500 0.95 0.951256419504014 0.950628209752007 NA NA 0.83011827083949 0.957220903853499 NA NA 0.11988172916051 -0.00596448434948527 NA 0.893669587346495 NA 0.0569586224055123 NA FALSE NA 0 -0.117 . missense_variant MODERATE AKR1C3 HGNC 386 ENST00000380554 4/9 1 tolerated(0.99) benign(0) NA TCA C,T 8.236e-06 10:5098818 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 missense_variant -0.794044 0.04739 0.00206 0.706298 0.50873165097138 0 1.07139398635711e-11 FALSE 1.62941e-05 ENSE00000907705_017 ENSE00000907705 017 10 5140943 5141112 + 51 78 41 A G 5141036 202 94 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATACTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098843 5098844 5098844 exon -36 0.551282051282051 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAGTATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 54 181 1 0.979066187337844 0.989533093668922 NA NA 0.83011827083949 0.957220903853499 NA NA 0.16988172916051 0.0218452834843446 NA 0.893669587346495 NA 0.0958635063224272 NA FALSE NA 0 -0.604 . missense_variant MODERATE AKR1C3 HGNC 386 ENST00000380554 4/9 1 tolerated(0.07) benign(0.001) NA AAT A,G 8.236e-06 10:5098844 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 missense_variant -1.355767 0.15514 0.03883 0.615465 0.272170649984922 0 1.07139398635711e-11 FALSE 4.07203e-06 ENSE00000907705_019 ENSE00000907705 019 10 5140943 5141112 + 51 78 41 T G 5141049 204 107 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCCCTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098856 5098857 5098857 exon -23 0.717948717948718 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGGGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 105 29 0.8 0.8 0.8 NA NA 0.83011827083949 0.957220903853499 NA NA -0.03011827083949 -0.157220903853499 NA 0.893669587346495 NA -0.0936695873464946 NA FALSE NA 0.995 2.554 . missense_variant MODERATE AKR1C3 HGNC 386 ENST00000380554 4/9 1 deleterious(0.01) possibly_damaging(0.56) NA GTG T,G 8.236e-06 10:5098857 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 missense_variant 3.145655 0.63222 0.68789 0.706298 0.986094006868627 0 1.07139398635711e-11 FALSE 1.6302e-05 ENSE00000907705_028 ENSE00000907705 028 10 5140943 5141112 + 51 78 41 C G 5141079 213 137 TTTTGTCATCCTTCTCTGTGTCCTCTCCGCCAACCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098886 5098887 5098887 downstr_intron 8 1.2 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGGTTGGCGGAGAGGACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 864 29 0.988843839490832 1 0.994421919745416 NA NA 0.83011827083949 0.957220903853499 NA NA 0.158725568651342 0.0427790961465008 NA 0.893669587346495 NA 0.100752332398921 NA FALSE NA 0 -1.411 . splice_region_variant&intron_variant LOW AKR1C3 HGNC 386 ENST00000380554 4/8 1 NA GCT C,G 8.237e-06 10:5098887 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 splice_region_variant 0.135988 0.09174 0.01606 0.053691 0.576614350005283 0.0476178 1.07139398635711e-11 FALSE 4.15451e-06 ENSE00000907705_031 ENSE00000907705 031 10 5140943 5141112 + 51 78 41 G A 5141091 216 149 TTTTGTCATCCTTCTCTGTGTTCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098898 5098899 5098899 downstr_intron 20 1.5 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGAACACAGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 803 99 0.912438162717946 0.999614659654686 0.956026411186316 NA NA 0.83011827083949 0.957220903853499 NA NA 0.0823198918784558 0.0423937558011868 NA 0.893669587346495 NA 0.0623568238398213 NA FALSE NA 0 0.062 . intron_variant MODIFIER AKR1C3 HGNC 386 ENST00000380554 4/8 1 NA GGA G,A 4.118e-05 10:5098899 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 intron_variant -0.386521 0.05958 0.00071 0.053691 0.159610998816693 0.0483959 1.07139398635711e-11 FALSE 2.97839e-05 ENSE00000907705_032 ENSE00000907705 032 10 5140943 5141112 + 51 78 41 A T 5141096 217 154 TTTTGTCATCCTTCTCAGTGTCCTCTCCGCCAAGCACTCACCTCCCAGGTGGTACAGAGATCCACTATGTCAAATATTACTTTTCCATTTTCATCTGTTGGTGAAAGTTCCTCACCTGGCTGAAATAGAAGCAGTCATTTTAATGATGTCACAAATTAATTTCTCCACTC 5098750 5098920 5098903 5098904 5098904 downstr_intron 25 1.625 GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACTGAGAAGGATGACAAAA GAGTGGAGAAATTAATTTGTGACATCATTAAAATGACTGCTTCTATTTCAGCCAGGTGAGGAACTTTCACCAACAGATGAAAATGGAAAAGTAATATTTGACATAGTGGATCTCTGTACCACCTGGGAGGTGAGTGCTTGGCGGAGAGGACACAGAGAAGGATGACAAAA mutant NA NA NA NA NA 869 72 0.996366138302283 1 0.998183069151142 NA NA 0.83011827083949 0.957220903853499 NA NA 0.166247867462793 0.0427790961465008 NA 0.893669587346495 NA 0.104513481804647 NA FALSE NA 0.029 0.961 . intron_variant MODIFIER AKR1C3 HGNC 386 ENST00000380554 4/8 1 NA CAG A,T 4.942e-05 10:5098904 AKR1C3 HGNC Symbol protein_coding 72332 ENSG00000196139 ENSE00003794241 intron_variant -0.204037 0.12704 0.05414 0.053691 0.684952403780059 0.0483959 1.07139398635711e-11 FALSE 6.90506e-05 ENSE00000909084_000 ENSE00000909084 000 16 16146537 16146706 + 44 93 33 NA NA NA NA NA TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 NA NA NA NA NA NA TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG natural NA NA NA NA NA 147 966 0.966896663506468 0.998207225915209 0.982551944710839 NA NA 0.966896663506468 0.998207225915209 NA NA 0 0 NA 0.982551944710839 NA 0 NA FALSE NA NA NA NA NA NA ABCC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC1 NA NA NA ENSG00000103222 ENSE00003637114 NA NA NA NA NA NA NA 0.0194357604713981 FALSE NA ENSE00000909084_002 ENSE00000909084 002 16 16146537 16146706 + 44 93 33 G A 16146552 1027 16 TCTTCTGTCTGGTGAATGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052694 16052695 16052695 upstr_intron -29 -0.636363636363636 TCTTCTGTCTGGTGAATGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 64 71 0.94554085469475 1 0.972770427347375 NA NA 0.966896663506468 0.998207225915209 NA NA -0.0213558088117182 0.00179277408479073 NA 0.982551944710839 NA -0.00978151736346372 NA FALSE NA 0.104 0.563 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 7/8 rs376605340 1 NA A:0.0002 A:0 AGT G,A 8.257e-06 16:16052695 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 1.989491 0.23024 0.04962 0.156188 0.920353451871779 0.0773708 0.0194357604713981 FALSE 4.07608e-06 ENSE00000909084_003 ENSE00000909084 003 16 16146537 16146706 + 44 93 33 A C 16146555 1028 19 TCTTCTGTCTGGTGAGTGCTGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052697 16052698 16052698 upstr_intron -26 -0.568181818181818 TCTTCTGTCTGGTGAGTGCTGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 126 931 1 0.995557346527446 0.997778673263723 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 -0.00264987938776329 NA 0.982551944710839 NA 0.0152267285528842 NA FALSE NA 0.001 -0.126 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 7/8 rs369156096 1 NA C:0 C:0.0001 GAT A,C 1.651e-05 16:16052698 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 1.781019 0.13775 0.01238 0.156188 0.887218019546545 0.0773708 0.0194357604713981 FALSE 8.95707e-05 ENSE00000909084_004 ENSE00000909084 004 16 16146537 16146706 + 44 93 33 G C 16146557 1029 21 TCTTCTGTCTGGTGAGTGATCAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052699 16052700 16052700 upstr_intron -24 -0.522727272727273 TCTTCTGTCTGGTGAGTGATCAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 186 220 0.996405222194216 1 0.998202611097108 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0295085586877482 0.00179277408479073 NA 0.982551944710839 NA 0.0156506663862694 NA FALSE NA 0 -1.325 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 7/8 1 NA TGA G,C 8.256e-06 16:16052700 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 1.361711 0.0876 0.00414 0.156188 0.862167356374078 0.0773708 0.0194357604713981 FALSE 4.07083e-06 ENSE00000909084_005 ENSE00000909084 005 16 16146537 16146706 + 44 93 33 G T 16146562 1030 26 TCTTCTGTCTGGTGAGTGATGAAGATTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052704 16052705 16052705 upstr_intron -19 -0.409090909090909 TCTTCTGTCTGGTGAGTGATGAAGATTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 323 252 0.999361203165668 0.999371892837842 0.999366548001755 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0324645396591997 0.00116466692263284 NA 0.982551944710839 NA 0.0168146032909163 NA FALSE NA 0 0.172 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 7/8 1 NA AGT G,T 3.302e-05 16:16052705 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 1.46198 0.09698 0.02991 0.295142 0.86760991351954 0.046875 0.0194357604713981 FALSE 3.25455e-05 ENSE00000909084_006 ENSE00000909084 006 16 16146537 16146706 + 44 93 33 T G 16146563 1031 27 TCTTCTGTCTGGTGAGTGATGAAGAGGCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052705 16052706 16052706 upstr_intron -18 -0.386363636363636 TCTTCTGTCTGGTGAGTGATGAAGAGGCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 35 138 1 0.960404387519759 0.980202193759879 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 -0.0378028383954502 NA 0.982551944710839 NA -0.00234975095095924 NA FALSE NA 0 0.62 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 7/8 rs545124858 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GTC T,G 1.651e-05 16:16052706 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 1.978304 0.26173 0.07451 0.295142 0.885483348407322 0.0673029 0.0194357604713981 FALSE 2.03426e-05 ENSE00000909084_008 ENSE00000909084 008 16 16146537 16146706 + 44 93 33 C G 16146572 1033 36 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCGTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052714 16052715 16052715 upstr_intron -9 -0.181818181818182 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCGTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 389 567 0.994838622562983 0.999596263614886 0.997217443088934 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0279419590565143 0.0013890376996768 NA 0.982551944710839 NA 0.0146654983780956 NA FALSE NA 0 0.12 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 7/8 rs373388856 1 NA G:0.0002 G:0 CCT C,G 1.651e-05 16:16052715 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 1.829324 0.24235 0.14976 0.295142 0.828773002994254 0.0977633 0.0194357604713981 FALSE 1.2196e-05 ENSE00000909084_010 ENSE00000909084 010 16 16146537 16146706 + 44 93 33 C T 16146576 1035 40 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCTTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052718 16052719 16052719 upstr_intron -5 -0.0909090909090909 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCTTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 112 39 1 1 1 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 0.00179277408479073 NA 0.982551944710839 NA 0.0174480552891612 NA FALSE NA 0 -0.074 NA NA NA ABCC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:16052719 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 splice_region_variant 1.068265 0.20917 0.06382 0.295142 0.645572030527818 0.109301 0.0194357604713981 FALSE 4.06454e-06 ENSE00000909084_011 ENSE00000909084 011 16 16146537 16146706 + 44 93 33 G A 16146588 1036 52 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGACCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052730 16052731 16052731 exon 8 0.0860215053763441 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGACCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 264 479 0.986372163889271 1 0.993186081944635 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0194755003828023 0.00179277408479073 NA 0.982551944710839 NA 0.0106341372337965 NA FALSE NA 1 9.428 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA GGC G,A 1.65e-05 16:16052731 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant 5.223996 0.99517 0.99517 0.706548 0.998122224751139 0 0.0194357604713981 FALSE 8.12724e-06 ENSE00000909084_012 ENSE00000909084 012 16 16146537 16146706 + 44 93 33 C T 16146595 1037 59 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCTGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052737 16052738 16052738 exon 15 0.161290322580645 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCTGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 1877 397 0.99980250733079 0.999601423230628 0.999701965280709 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0329058438243219 0.00139419731541901 NA 0.982551944710839 NA 0.0171500205698705 NA FALSE NA 0.001 -1.142 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 rs373421750 1 NA T:0.0002 T:0 CCG C,T 5.777e-05 16:16052738 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 synonymous_variant 1.096662 0.3605 0.02689 0.706548 0.42190715045157 0 0.0194357604713981 FALSE 2.84405e-05 ENSE00000909084_014 ENSE00000909084 014 16 16146537 16146706 + 44 93 33 G T 16146602 1039 66 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGTCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052744 16052745 16052745 exon 22 0.236559139784946 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGTCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 208 229 0.998205592833113 1 0.999102796416556 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0313089293266443 0.00179277408479073 NA 0.982551944710839 NA 0.0165508517057175 NA FALSE NA 1 9.428 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA GGC G,T 8.256e-06 16:16052745 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant 5.408451 0.99539 0.99579 0.706548 0.997596271240231 0 0.0194357604713981 FALSE NA ENSE00000909084_015 ENSE00000909084 015 16 16146537 16146706 + 44 93 33 C T 16146612 1040 76 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGTGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052754 16052755 16052755 exon 32 0.344086021505376 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGTGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 33 104 1 1 1 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 0.00179277408479073 NA 0.982551944710839 NA 0.0174480552891612 NA FALSE NA 0.998 3.751 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA GCG C,T 8.257e-06 16:16052755 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant 3.222037 0.97955 0.9462 0.706548 0.999195732860563 0 0.0194357604713981 FALSE NA ENSE00000909084_017 ENSE00000909084 017 16 16146537 16146706 + 44 93 33 T C 16146627 1042 91 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCACGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052769 16052770 16052770 exon -47 0.505376344086022 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCACGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 580 216 0.995179904224983 0.999267106803173 0.997223505514078 NA NA 0.966896663506468 0.998207225915209 NA NA 0.028283240718515 0.00105988088796405 NA 0.982551944710839 NA 0.0146715608032395 NA FALSE NA 1 7.659 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA ATG T,C 8.257e-06 16:16052770 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant 4.597778 0.99124 0.9885 0.706548 0.99176047416321 0 0.0194357604713981 FALSE 8.12486e-06 ENSE00000909084_018 ENSE00000909084 018 16 16146537 16146706 + 44 93 33 C A 16146632 1043 96 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGACCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052774 16052775 16052775 exon -42 0.559139784946237 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGACCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 1018 17 0.89112237792873 1 0.945561188964365 NA NA 0.966896663506468 0.998207225915209 NA NA -0.0757742855777386 0.00179277408479073 NA 0.982551944710839 NA -0.0369907557464739 NA FALSE NA 1 7.449 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA GCC C,A 8.256e-06 16:16052775 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant 5.586347 0.99377 0.99155 0.706548 0.998235894918097 0 0.0194357604713981 FALSE 8.12566e-06 ENSE00000909084_019 ENSE00000909084 019 16 16146537 16146706 + 44 93 33 C T 16146634 1044 98 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCTGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052776 16052777 16052777 exon -40 0.580645161290323 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCTGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 263 112 1 0.992156570673337 0.996078285336668 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 -0.00605065524187265 NA 0.982551944710839 NA 0.0135263406258295 NA FALSE NA 0 -2.506 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA CCG C,T 5.779e-05 16:16052777 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 synonymous_variant 1.635203 0.22492 0.04884 0.706548 0.621992312010745 0 0.0194357604713981 FALSE 3.65565e-05 ENSE00000909084_020 ENSE00000909084 020 16 16146537 16146706 + 44 93 33 G A 16146635 1045 99 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCATCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052777 16052778 16052778 exon -39 0.591397849462366 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCATCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 490 115 0.994145175953713 1 0.997072587976856 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0272485124472447 0.00179277408479073 NA 0.982551944710839 NA 0.0145206432660177 NA FALSE NA 0 -2.792 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA CGT G,A 1.651e-05 16:16052778 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant -1.604392 0.16026 0.04382 0.706548 0.771202499397307 0 0.0194357604713981 FALSE 1.21874e-05 ENSE00000909084_021 ENSE00000909084 021 16 16146537 16146706 + 44 93 33 C T 16146651 1046 115 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGTGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052793 16052794 16052794 exon -23 0.763440860215054 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGTGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 370 259 0.997754019320424 0.983145510907105 0.990449765113764 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0308573558139554 -0.0150617150081046 NA 0.982551944710839 NA 0.00789782040292542 NA FALSE NA 1 7.449 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA GCG C,T 8.26e-06 16:16052794 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant 6.836812 0.9934 0.98933 0.706548 0.999216638160487 0 0.0194357604713981 FALSE 2.03166e-05 ENSE00000909084_022 ENSE00000909084 022 16 16146537 16146706 + 44 93 33 G A 16146652 1047 116 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCAATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052794 16052795 16052795 exon -22 0.774193548387097 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCAATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 415 1054 0.993662097674237 0.999699782928937 0.996680940301587 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0267654341677689 0.00149255701372819 NA 0.982551944710839 NA 0.0141289955907485 NA FALSE NA 0.001 -1.641 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA CGA G,A 8.26e-06 16:16052795 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 synonymous_variant 1.202919 0.95062 0.10194 0.706548 0.627832568298661 0 0.0194357604713981 FALSE 3.25e-05 ENSE00000909084_023 ENSE00000909084 023 16 16146537 16146706 + 44 93 33 C T 16146666 1048 130 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGATGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052808 16052809 16052809 exon -8 0.924731182795699 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGATGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 275 621 0.995266494709282 0.999058505725595 0.997162500217438 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0283698312028133 0.000851279810385908 NA 0.982551944710839 NA 0.0146105555065996 NA FALSE NA 1 4.477 rs148042527 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 rs148042527 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0031 T:0 ACG C,T 0.0002396 16:16052809 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant 5.91947 0.98314 0.94583 0.706548 0.99563546493007 0 0.0194357604713981 FALSE 0.00018689 ENSE00000909084_024 ENSE00000909084 024 16 16146537 16146706 + 44 93 33 G A 16146667 1049 131 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACATATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052809 16052810 16052810 exon -7 0.935483870967742 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACATATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 1237 734 0.997845313305139 0.843200536099139 0.920522924702139 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0309486497986707 -0.155006689816071 NA 0.982551944710839 NA -0.0620290200087 NA FALSE NA 0.377 -0.101 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 rs566325824&COSM1518076 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 CGT G,A 9.916e-05 16:16052810 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 synonymous_variant 0.595683 0.95441 0.58888 0.706548 0.649674339792678 0 0.0194357604713981 FALSE 0.00011786 ENSE00000909084_025 ENSE00000909084 025 16 16146537 16146706 + 44 93 33 T C 16146668 1050 132 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGCATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052810 16052811 16052811 exon -6 0.946236559139785 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGCATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 314 805 0.997883941154014 0.999192244573055 0.998538092863534 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0309872776475454 0.000985018657845504 NA 0.982551944710839 NA 0.0159861481526954 NA FALSE NA 1 7.434 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 rs200721867 1 NA GTA T,C 2.479e-05 16:16052811 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 missense_variant 4.537544 0.97899 0.97284 0.706548 0.997782980765614 0 0.0194357604713981 FALSE 2.03136e-05 ENSE00000909084_026 ENSE00000909084 026 16 16146537 16146706 + 44 93 33 T C 16146670 1051 134 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTACCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052812 16052813 16052813 exon -4 0.967741935483871 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTACCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 406 206 1 1 1 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 0.00179277408479073 NA 0.982551944710839 NA 0.0174480552891612 NA FALSE NA 0.989 0.422 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/9 1 NA ATC T,C 8.264e-06 16:16052813 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 synonymous_variant -1.297277 0.94627 0.44603 0.706548 0.158684821035497 0 0.0194357604713981 FALSE 4.06266e-06 ENSE00000909084_027 ENSE00000909084 027 16 16146537 16146706 + 44 93 33 G T 16146679 1052 143 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGTCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052821 16052822 16052822 downstr_intron 6 1.1875 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGTCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 299 260 1 0.989515884437509 0.994757942218754 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 -0.00869134147770045 NA 0.982551944710839 NA 0.0122059975079156 NA FALSE NA 0 -0.332 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ABCC1 HGNC 51 ENST00000574224 8/8 1 NA GGC G,T 8.267e-06 16:16052822 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 splice_region_variant -0.062951 0.20601 0.03612 0.099367 0.452267174326218 0.0566539 0.0194357604713981 FALSE NA ENSE00000909084_028 ENSE00000909084 028 16 16146537 16146706 + 44 93 33 C T 16146680 1053 144 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGTATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052822 16052823 16052823 downstr_intron 7 1.21875 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGTATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 324 338 1 1 1 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 0.00179277408479073 NA 0.982551944710839 NA 0.0174480552891612 NA FALSE NA 0 -0.444 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ABCC1 HGNC 51 ENST00000574224 8/8 1 NA GCA C,T 1.654e-05 16:16052823 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 splice_region_variant 0.240172 0.19944 0.02008 0.099367 0.509762157901824 0.0490229 0.0194357604713981 FALSE NA ENSE00000909084_029 ENSE00000909084 029 16 16146537 16146706 + 44 93 33 T C 16146682 1054 146 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCACGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052824 16052825 16052825 downstr_intron 9 1.28125 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCACGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 85 993 1 0.997666829819277 0.998833414909639 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 -0.000540396095931928 NA 0.982551944710839 NA 0.0162814701987999 NA FALSE NA 0 0.061 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/8 rs537499399 1 NA ATG T,C 1.654e-05 16:16052825 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 0.052277 0.21436 0.01459 0.099367 0.384998898356748 0.0490229 0.0194357604713981 FALSE 2.43906e-05 ENSE00000909084_030 ENSE00000909084 030 16 16146537 16146706 + 44 93 33 G A 16146683 1055 147 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATATGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052825 16052826 16052826 downstr_intron 10 1.3125 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATATGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 395 539 0.997578790189914 0.944909468388591 0.971244129289252 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0306821266834454 -0.053297757526618 NA 0.982551944710839 NA -0.0113078154215863 NA FALSE NA 0 0.032 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/8 1 NA TGT G,A 8.271e-06 16:16052826 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 0.084863 0.28742 0.02663 0.099367 0.620376597044333 0.0490229 0.0194357604713981 FALSE 4.06435e-06 ENSE00000909084_031 ENSE00000909084 031 16 16146537 16146706 + 44 93 33 G A 16146685 1056 149 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTATCTCTGCGGGCCCCCAAGCCG 16052679 16052849 16052827 16052828 16052828 downstr_intron 12 1.375 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTATCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 803 49 1 1 1 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0331033364935317 0.00179277408479073 NA 0.982551944710839 NA 0.0174480552891612 NA FALSE NA 0 0.153 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/8 1 NA TGT G,A 8.271e-06 16:16052828 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 0.190591 0.26157 0.02106 0.099367 0.569621206723566 0.0490229 0.0194357604713981 FALSE 4.06501e-06 ENSE00000909084_032 ENSE00000909084 032 16 16146537 16146706 + 44 93 33 C G 16146689 1057 153 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTGTGCGGGCCCCCAAGCCG 16052679 16052849 16052831 16052832 16052832 downstr_intron 16 1.5 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTGTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 270 275 0.997067518281326 0.999305042700642 0.998186280490984 NA NA 0.966896663506468 0.998207225915209 NA NA 0.0301708547748575 0.00109781678543253 NA 0.982551944710839 NA 0.015634335780145 NA FALSE NA 0 -0.358 . intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/8 1 NA TCT C,G 2.482e-05 16:16052832 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant 0.027271 0.22605 0.04581 0.099367 0.428965725750579 0.048454 0.0194357604713981 FALSE 2.03316e-05 ENSE00000909084_035 ENSE00000909084 035 16 16146537 16146706 + 44 93 33 G A 16146693 1060 157 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCAGGCCCCCAAGCCG 16052679 16052849 16052835 16052836 16052836 downstr_intron 20 1.625 TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCAGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG mutant NA NA NA NA NA 120 938 0.906461062803466 0.997272047122307 0.951866554962887 NA NA 0.966896663506468 0.998207225915209 NA NA -0.0604356007030021 -0.000935178792901947 NA 0.982551944710839 NA -0.030685389747952 NA FALSE NA 0 -1.381 rs187261086 intron_variant&non_coding_transcript_variant MODIFIER ABCC1 HGNC 51 ENST00000574224 8/8 rs187261086 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGG G,A 8.273e-05 16:16052836 ABCC1 HGNC Symbol protein_coding 193497 ENSG00000103222 ENSE00003637114 intron_variant -0.243116 0.14658 0.01109 0.099367 0.468112704552535 0.0634861 0.0194357604713981 FALSE 8.13762e-05 ENSE00000909084_BRK ENSE00000909084 BRK 16 16146537 16146706 + 44 93 33 A,G; T,T NA NA NA TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTTTAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGCCAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG 16052679 16052849 NA NA NA NA NA NA TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTTTAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGCCAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG TCTTCTGTCTGGTGAGTGATGAAGAGTCTCCTTTCCTTCCTTAGAATCTGGGCCCTTCCGTCCTGGCTGGAGTGGCGGTGATGGTCCTCATGGTGCCCGTCAATGCTGTGATGGCGATGAAGACCAAGACGTATCAGGTAAGGCATGTGTCTCTGCGGGCCCCCAAGCCG control NA NA NA NA NA 486 125 0 0 0 NA NA 0.966896663506468 0.998207225915209 NA NA -0.966896663506468 -0.998207225915209 NA 0.982551944710839 NA -0.982551944710839 NA TRUE NA NA NA NA NA NA ABCC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC1 NA NA NA ENSG00000103222 ENSE00003637114 NA NA NA NA NA NA NA 0.0194357604713981 FALSE NA ENSE00000909474_000 ENSE00000909474 000 7 140255395 140255564 - 41 78 51 NA NA NA NA NA TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 NA NA NA NA NA NA TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG natural NA NA NA NA NA 1570 1709 0.886984721288135 0.983345572122696 0.935165146705416 NA NA 0.886984721288135 0.983345572122696 NA NA 0 0 NA 0.935165146705416 NA 0 NA FALSE NA NA NA NA NA NA DENND2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2A NA NA NA ENSG00000146966 ENSE00000909474 NA NA NA NA NA NA NA 0.972231280413339 TRUE NA ENSE00000909474_001 ENSE00000909474 001 7 140255395 140255564 - 41 78 51 C T 140255415 2914 150 CGTTCCTTCCCTTCCTCTTTTTCTGAGGTCCAAGTTCTCACCCTTGAAAAGAGGCTGAAGCATCCCAGGCGGCTCACAATGCAGTAAACTTCAGGAAGGCGCTTCCCTTTGCCTCCAGGCTTTTCGGAGAGAAACACAAGGGAATTATGAGTGTTGACAACCTCAGGGAA 140555594 140555764 140555614 140555615 140555615 downstr_intron 21 1.525 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAAAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 915 1319 0.997140542844041 0.987444882734793 0.992292712789417 NA NA 0.886984721288135 0.983345572122696 NA NA 0.110155821555906 0.00409931061209701 NA 0.935165146705416 NA 0.0571275660840013 NA FALSE NA 0.026 0.754 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 12/19 1 NA TCT C,T 1.655e-05 7:140555615 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 intron_variant 2.470899 0.24789 0.08934 0.053691 0.869527104755679 0.334097 0.972231280413339 TRUE 4.51604e-05 ENSE00000909474_002 ENSE00000909474 002 7 140255395 140255564 - 41 78 51 C G 140255425 2915 140 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTCGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 140555624 140555625 140555625 downstr_intron 11 1.275 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTCGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 43 341 1 0.987746022616221 0.993873011308111 NA NA 0.886984721288135 0.983345572122696 NA NA 0.113015278711865 0.00440045049352533 NA 0.935165146705416 NA 0.0587078646026951 NA FALSE NA 0 -0.135 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 12/19 1 NA CCA C,G 8.277e-06 7:140555625 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 intron_variant 1.923696 0.31238 0.05505 0.053691 0.734247656770225 0.390042 0.972231280413339 TRUE 8.21564e-06 ENSE00000909474_003 ENSE00000909474 003 7 140255395 140255564 - 41 78 51 A T 140255427 2916 138 CGTTCCTTCCCTTCCTCTTTCTCTGAGGTCCATGTTCTCACCCTTGAAAAGAGGCTGAAGCATCCCAGGCGGCTCACAATGCAGTAAACTTCAGGAAGGCGCTTCCCTTTGCCTCCAGGCTTTTCGGAGAGAAACACAAGGGAATTATGAGTGTTGACAACCTCAGGGAA 140555594 140555764 140555626 140555627 140555627 downstr_intron 9 1.225 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACATGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 191 284 1 1 1 NA NA 0.886984721288135 0.983345572122696 NA NA 0.113015278711865 0.016654427877304 NA 0.935165146705416 NA 0.0648348532945844 NA FALSE NA 0 -0.418 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 12/19 rs368694557 1 NA T:0.0003 T:0 AAG A,T 1.655e-05 7:140555627 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 intron_variant 1.80168 0.18302 0.03161 0.053691 0.813312953107202 0.396826 0.972231280413339 TRUE 8.2222e-06 ENSE00000909474_006 ENSE00000909474 006 7 140255395 140255564 - 41 78 51 C T 140255437 2919 128 CGTTCCTTCCCTTCCTCTTTCTCTGAGGTCCAAGTTCTCACCTTTGAAAAGAGGCTGAAGCATCCCAGGCGGCTCACAATGCAGTAAACTTCAGGAAGGCGCTTCCCTTTGCCTCCAGGCTTTTCGGAGAGAAACACAAGGGAATTATGAGTGTTGACAACCTCAGGGAA 140555594 140555764 140555636 140555637 140555637 exon -2 0.987179487179487 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAAGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 61 177 0.987187471735734 0.985707884705268 0.986447678220501 NA NA 0.886984721288135 0.983345572122696 NA NA 0.100202750447599 0.00236231258257158 NA 0.935165146705416 NA 0.0512825315150851 NA FALSE NA 1 4.567 . missense_variant&splice_region_variant MODERATE DENND2A HGNC 22212 ENST00000496613 12/20 COSM212415 1 tolerated(1) benign(0.001) NA CCT T,T 8.276e-06 7:140555637 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 missense_variant 1.873977 0.96992 0.1577 0.615465 0.84433233540688 0 0.972231280413339 TRUE 8.22057e-06 ENSE00000909474_007 ENSE00000909474 007 7 140255395 140255564 - 41 78 51 C T 140255449 2920 116 CGTTCCTTCCCTTCCTCTTTCTCTGAGGTCCAAGTTCTCACCCTTGAAAAGAGGTTGAAGCATCCCAGGCGGCTCACAATGCAGTAAACTTCAGGAAGGCGCTTCCCTTTGCCTCCAGGCTTTTCGGAGAGAAACACAAGGGAATTATGAGTGTTGACAACCTCAGGGAA 140555594 140555764 140555648 140555649 140555649 exon -14 0.833333333333333 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAACCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 121 46 1 1 1 NA NA 0.886984721288135 0.983345572122696 NA NA 0.113015278711865 0.016654427877304 NA 0.935165146705416 NA 0.0648348532945844 NA FALSE NA 1 3.631 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 12/20 1 tolerated(1) benign(0.009) NA GCT C,T 8.276e-06 7:140555649 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 missense_variant 2.023015 0.98584 0.70657 0.615465 0.529162824376055 0 0.972231280413339 TRUE 4.12262e-06 ENSE00000909474_009 ENSE00000909474 009 7 140255395 140255564 - 41 78 51 G C 140255462 2922 103 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCGTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 140555661 140555662 140555662 exon -27 0.666666666666667 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCGTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 207 486 1 0.892170996256204 0.946085498128102 NA NA 0.886984721288135 0.983345572122696 NA NA 0.113015278711865 -0.091174575866492 NA 0.935165146705416 NA 0.0109203514226864 NA FALSE NA 1 7.219 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:140555662 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 missense_variant 5.96466 0.99222 0.98387 0.706298 0.998686810242506 0 0.972231280413339 TRUE 6.21798e-05 ENSE00000909474_010 ENSE00000909474 010 7 140255395 140255564 - 41 78 51 G A 140255462 2923 103 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCTTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 140555661 140555662 140555662 exon -27 0.666666666666667 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCTTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 57 35 1 1 1 NA NA 0.886984721288135 0.983345572122696 NA NA 0.113015278711865 0.016654427877304 NA 0.935165146705416 NA 0.0648348532945844 NA FALSE NA 1 7.219 NA NA NA DENND2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2A NA NA NA ENSG00000146966 ENSE00000909474 synonymous_variant 1.31561 0.9918 0.97815 0.706298 0.744091864350801 0 0.972231280413339 TRUE 4.14532e-06 ENSE00000909474_011 ENSE00000909474 011 7 140255395 140255564 - 41 78 51 C T 140255464 2924 101 CGTTCCTTCCCTTCCTCTTTCTCTGAGGTCCAAGTTCTCACCCTTGAAAAGAGGCTGAAGCATCCCAGGTGGCTCACAATGCAGTAAACTTCAGGAAGGCGCTTCCCTTTGCCTCCAGGCTTTTCGGAGAGAAACACAAGGGAATTATGAGTGTTGACAACCTCAGGGAA 140555594 140555764 140555663 140555664 140555664 exon -29 0.641025641025641 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCACCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 195 549 1 0.996966437507638 0.998483218753819 NA NA 0.886984721288135 0.983345572122696 NA NA 0.113015278711865 0.0136208653849424 NA 0.935165146705416 NA 0.0633180720484036 NA FALSE NA 1 7.142 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 12/20 rs562738531&COSM745359 1 tolerated(0.1) possibly_damaging(0.746) NA GCG C,T 3.31e-05 7:140555664 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 missense_variant 6.942353 0.99495 0.97961 0.706298 0.999305965585711 0 0.972231280413339 TRUE NA ENSE00000909474_012 ENSE00000909474 012 7 140255395 140255564 - 41 78 51 G A 140255465 2925 100 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCTGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 140555664 140555665 140555665 exon -30 0.628205128205128 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCTGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 228 145 0.989630075015996 0.98724367482749 0.988436874921743 NA NA 0.886984721288135 0.983345572122696 NA NA 0.102645353727861 0.00389810270479429 NA 0.935165146705416 NA 0.0532717282163275 NA FALSE NA 1 7.075 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 12/20 COSM1187455&COSM3878728&COSM3878729 1 deleterious(0) probably_damaging(1) NA CGG G,A 8.276e-06 7:140555665 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 missense_variant 8.008444 0.99135 0.97388 0.706298 0.999324830155723 0 0.972231280413339 TRUE 2.09605e-05 ENSE00000909474_013 ENSE00000909474 013 7 140255395 140255564 - 41 78 51 A T 140255487 2926 78 CGTTCCTTCCCTTCCTCTTTCTCTGAGGTCCAAGTTCTCACCCTTGAAAAGAGGCTGAAGCATCCCAGGCGGCTCACAATGCAGTAAACTTCTGGAAGGCGCTTCCCTTTGCCTCCAGGCTTTTCGGAGAGAAACACAAGGGAATTATGAGTGTTGACAACCTCAGGGAA 140555594 140555764 140555686 140555687 140555687 exon 27 0.346153846153846 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCAGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 125 54 0.900796120420525 0.879129678269894 0.889962899345209 NA NA 0.886984721288135 0.983345572122696 NA NA 0.0138113991323894 -0.104215893852802 NA 0.935165146705416 NA -0.0452022473602066 NA FALSE NA 0.002 -1.347 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:140555687 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 synonymous_variant -0.190254 0.26577 0.04133 0.706298 0.580964544529717 0 0.972231280413339 TRUE 4.17157e-06 ENSE00000909474_014 ENSE00000909474 014 7 140255395 140255564 - 41 78 51 A G 140255487 2927 78 CGTTCCTTCCCTTCCTCTTTCTCTGAGGTCCAAGTTCTCACCCTTGAAAAGAGGCTGAAGCATCCCAGGCGGCTCACAATGCAGTAAACTTCGGGAAGGCGCTTCCCTTTGCCTCCAGGCTTTTCGGAGAGAAACACAAGGGAATTATGAGTGTTGACAACCTCAGGGAA 140555594 140555764 140555686 140555687 140555687 exon 27 0.346153846153846 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCCGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 302 1348 0.997242305787663 0.987860061642533 0.992551183715098 NA NA 0.886984721288135 0.983345572122696 NA NA 0.110257584499528 0.00451448951983657 NA 0.935165146705416 NA 0.0573860370096821 NA FALSE NA 0.002 -1.347 NA NA NA DENND2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2A NA NA NA ENSG00000146966 ENSE00000909474 synonymous_variant 0.55471 0.26474 0.04845 0.706298 0.626415548203708 0 0.972231280413339 TRUE 4.17157e-06 ENSE00000909474_016 ENSE00000909474 016 7 140255395 140255564 - 41 78 51 T C 140255497 2929 68 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAGGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 140555696 140555697 140555697 exon 17 0.217948717948718 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAGGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 484 303 0.995784756856024 0.997706666284759 0.996745711570391 NA NA 0.886984721288135 0.983345572122696 NA NA 0.108800035567889 0.0143610941620625 NA 0.935165146705416 NA 0.0615805648649757 NA FALSE NA 1 3.571 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 12/20 1 tolerated(0.28) benign(0.033) NA CTT T,C 8.275e-06 7:140555697 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 missense_variant 1.982751 0.98179 0.84233 0.706298 0.993294024354094 0 0.972231280413339 TRUE 4.1881e-06 ENSE00000909474_017 ENSE00000909474 017 7 140255395 140255564 - 41 78 51 T G 140255504 2930 61 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCCAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 140555703 140555704 140555704 exon 10 0.128205128205128 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCCAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 17 173 1 1 1 NA NA 0.886984721288135 0.983345572122696 NA NA 0.113015278711865 0.016654427877304 NA 0.935165146705416 NA 0.0648348532945844 NA FALSE NA 1 7.343 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 12/20 rs374490604 1 deleterious(0) probably_damaging(0.928) NA G:0 G:0.0001 TTG T,G 1.655e-05 7:140555704 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 missense_variant 6.263283 0.99341 0.98143 0.706298 0.995789959556858 0 0.972231280413339 TRUE 1.27218e-05 ENSE00000909474_020 ENSE00000909474 020 7 140255395 140255564 - 41 78 51 G A 140255513 2933 52 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGTCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 140555712 140555713 140555713 exon 1 0.0128205128205128 TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGTCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 735 174 0.821872443845503 0.851484851902393 0.836678647873948 NA NA 0.886984721288135 0.983345572122696 NA NA -0.0651122774426318 -0.131860720220303 NA 0.935165146705416 NA -0.0984864988314675 NA FALSE NA 1 9.032 . missense_variant&splice_region_variant MODERATE DENND2A HGNC 22212 ENST00000496613 12/20 1 deleterious(0.01) benign(0.356) NA GGC G,A 8.275e-06 7:140555713 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 missense_variant 4.947858 0.99508 0.9882 0.706298 0.999212705788699 0 0.972231280413339 TRUE NA ENSE00000909474_024 ENSE00000909474 024 7 140255395 140255564 - 41 78 51 T C 140255548 2937 17 TTCCCTGAGGTTGTCAGCACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 140555747 140555748 140555748 upstr_intron -35 -0.666666666666667 TTCCCTGAGGTTGTCAGCACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG mutant NA NA NA NA NA 1358 82 0.93275621042761 0.955045422989958 0.943900816708784 NA NA 0.886984721288135 0.983345572122696 NA NA 0.0457714891394748 -0.0283001491327383 NA 0.935165146705416 NA 0.00873567000336828 NA FALSE NA 0 0.21 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 11/19 1 NA GTT T,C 8.275e-06 7:140555748 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00000909474 intron_variant 1.271207 0.30713 0.08784 0.053691 0.758065632922652 0.251639 0.972231280413339 TRUE NA ENSE00000909474_BRK ENSE00000909474 BRK 7 140255395 140255564 - 41 78 51 A,G; T,T NA NA NA TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAATTCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGCCGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG 140555594 140555764 NA NA NA NA NA NA TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAATTCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGCCGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG TTCCCTGAGGTTGTCAACACTCATAATTCCCTTGTGTTTCTCTCCGAAAAGCCTGGAGGCAAAGGGAAGCGCCTTCCTGAAGTTTACTGCATTGTGAGCCGCCTGGGATGCTTCAGCCTCTTTTCAAGGGTGAGAACTTGGACCTCAGAGAAAGAGGAAGGGAAGGAACG control NA NA NA NA NA 25 19 0.8 0.95 0.875 NA NA 0.886984721288135 0.983345572122696 NA NA -0.0869847212881352 -0.0333455721226961 NA 0.935165146705416 NA -0.0601651467054156 NA FALSE NA NA NA NA NA NA DENND2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2A NA NA NA ENSG00000146966 ENSE00000909474 NA NA NA NA NA NA NA 0.972231280413339 TRUE NA ENSE00000909705_000 ENSE00000909705 000 12 29664935 29665104 - 41 78 51 NA NA NA NA NA TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 NA NA NA NA NA NA TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC natural 78 212 0.879065388232614 0.85 0.864532694116307 772 704 0.946493998723598 0.838053543672252 0.892273771197925 0.879065388232614 0.85 0.946493998723598 0.838053543672252 0 0 0 0 0.864532694116307 0.892273771197925 0 0 0 FALSE FALSE NA NA NA NA NA TMTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMTC1 NA NA NA ENSG00000133687 ENSE00003584629 NA NA NA NA NA NA NA 3.06491591423056e-07 FALSE NA ENSE00000909705_005 ENSE00000909705 005 12 29664935 29665104 - 41 78 51 G A 29665010 878 95 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGTCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 29512076 29512077 29512077 exon -35 0.564102564102564 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGTCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC mutant NA NA NA NA NA 101 1566 0.759078573878651 0.800161480961149 0.7796200274199 0.879065388232614 0.85 0.946493998723598 0.838053543672252 NA NA -0.187415424844947 -0.037892062711103 0.864532694116307 0.892273771197925 NA -0.112653743778025 NA FALSE NA 1 8.705 . missense_variant MODERATE TMTC1 HGNC 24099 ENST00000256062 17/18 COSM547838 1 deleterious(0) probably_damaging(0.991) NA GGC G,A 8.236e-06 12:29512077 TMTC1 HGNC Symbol protein_coding 283919 ENSG00000133687 ENSE00003584629 missense_variant 7.263111 0.99295 0.98925 0.706298 0.999003353304732 0 3.06491591423056e-07 FALSE 4.06329e-06 ENSE00000909705_006 ENSE00000909705 006 12 29664935 29665104 - 41 78 51 C G 29665017 879 88 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAACCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 29512083 29512084 29512084 exon 37 0.474358974358974 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAACCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC mutant NA NA NA NA NA 70 593 1 1 1 0.879065388232614 0.85 0.946493998723598 0.838053543672252 NA NA 0.0535060012764024 0.161946456327748 0.864532694116307 0.892273771197925 NA 0.107726228802075 NA FALSE NA 1 5.346 . missense_variant MODERATE TMTC1 HGNC 24099 ENST00000256062 17/18 1 tolerated(0.17) possibly_damaging(0.856) NA GCT C,G 8.236e-06 12:29512084 TMTC1 HGNC Symbol protein_coding 283919 ENSG00000133687 ENSE00003584629 missense_variant 5.154608 0.98703 0.95936 0.706298 0.997637335007975 0 3.06491591423056e-07 FALSE NA ENSE00000909705_009 ENSE00000909705 009 12 29664935 29665104 - 41 78 51 T A 29665022 882 83 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGTCCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 29512088 29512089 29512089 exon 32 0.41025641025641 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGTCCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC mutant 49 82 0.85 0.85 0.85 50 52 0.946504716292633 0.960783940155683 0.953644328224158 0.879065388232614 0.85 0.946493998723598 0.838053543672252 -0.0290653882326142 0 1.07175690349237e-05 0.122730396483431 0.864532694116307 0.892273771197925 -0.0145326941163071 0.0613705570262331 0.0759032511425402 FALSE FALSE 0.984 2.656 . missense_variant MODERATE TMTC1 HGNC 24099 ENST00000256062 17/18 1 deleterious(0.01) benign(0.197) NA GTC T,A 8.236e-06 12:29512089 TMTC1 HGNC Symbol protein_coding 283919 ENSG00000133687 ENSE00003584629 missense_variant 2.096604 0.28656 0.76122 0.706298 0.959637676313288 0 3.06491591423056e-07 FALSE 4.0656e-06 ENSE00000909705_010 ENSE00000909705 010 12 29664935 29665104 - 41 78 51 C T 29665023 883 82 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAAACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 29512089 29512090 29512090 exon 31 0.397435897435897 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAAACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC mutant NA NA NA NA NA 80 49 0.8 0.805133947406872 0.802566973703436 0.879065388232614 0.85 0.946493998723598 0.838053543672252 NA NA -0.146493998723598 -0.0329195962653799 0.864532694116307 0.892273771197925 NA -0.0897067974944887 NA FALSE NA 0.985 4.151 . missense_variant MODERATE TMTC1 HGNC 24099 ENST00000256062 17/18 1 tolerated(0.15) benign(0.199) NA TCT C,T 8.236e-06 12:29512090 TMTC1 HGNC Symbol protein_coding 283919 ENSG00000133687 ENSE00003584629 missense_variant 3.944435 0.60035 0.87946 0.706298 0.994172226386272 0 3.06491591423056e-07 FALSE 4.06623e-06 ENSE00000909705_012 ENSE00000909705 012 12 29664935 29665104 - 41 78 51 G T 29665032 885 73 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAAATAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 29512098 29512099 29512099 exon 22 0.282051282051282 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAAATAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC mutant 15 15 0.85 0.85 0.85 56 21 0.8 0.95 0.875 0.879065388232614 0.85 0.946493998723598 0.838053543672252 -0.0290653882326142 0 -0.146493998723598 0.111946456327748 0.864532694116307 0.892273771197925 -0.0145326941163071 -0.0172737711979247 0.00274107708161764 FALSE FALSE 0.999 2.744 . missense_variant MODERATE TMTC1 HGNC 24099 ENST00000256062 17/18 1 tolerated(0.2) possibly_damaging(0.844) NA AGT G,T 8.236e-06 12:29512099 TMTC1 HGNC Symbol protein_coding 283919 ENSG00000133687 ENSE00003584629 missense_variant 4.549538 0.97771 0.96683 0.706298 0.994674786379167 0 3.06491591423056e-07 FALSE NA ENSE00000909705_017 ENSE00000909705 017 12 29664935 29665104 - 41 78 51 C A 29665073 890 32 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGTATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 29512139 29512140 29512140 upstr_intron -20 -0.372549019607843 TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGTATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC mutant NA NA NA NA NA 35 128 0.995592340991861 0.999702126552899 0.99764723377238 0.879065388232614 0.85 0.946493998723598 0.838053543672252 NA NA 0.049098342268263 0.161648582880647 0.864532694116307 0.892273771197925 NA 0.105373462574455 NA FALSE NA 0.233 0.705 . intron_variant MODIFIER TMTC1 HGNC 24099 ENST00000256062 16/17 1 NA TCC C,A 8.237e-06 12:29512140 TMTC1 HGNC Symbol protein_coding 283919 ENSG00000133687 ENSE00003584629 intron_variant 0.666224 0.77563 0.33608 0.078448 0.639981870163324 0.661177 3.06491591423056e-07 FALSE 4.37155e-06 ENSE00000909705_019 ENSE00000909705 019 12 29664935 29665104 - 41 78 51 A G 29665091 892 14 TGGAGTTTGGAGGCTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 29512157 29512158 29512158 upstr_intron -38 -0.725490196078431 TGGAGTTTGGAGGCTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC mutant NA NA NA NA NA 16 32 0.95 0.95 0.95 0.879065388232614 0.85 0.946493998723598 0.838053543672252 NA NA 0.00350600127640233 0.111946456327748 0.864532694116307 0.892273771197925 NA 0.0577262288020752 NA FALSE NA 0.001 0.155 . intron_variant MODIFIER TMTC1 HGNC 24099 ENST00000256062 16/17 1 NA AAC A,G 8.237e-06 12:29512158 TMTC1 HGNC Symbol protein_coding 283919 ENSG00000133687 ENSE00003584629 intron_variant -0.112984 0.08326 0.00088 0.053691 0.542005545656757 0.0448725 3.06491591423056e-07 FALSE 4.72434e-06 ENSE00000909705_BRK ENSE00000909705 BRK 12 29664935 29665104 - 41 78 51 A,G; T,T NA NA NA TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTTTAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGCCAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC 29512001 29512171 NA NA NA NA NA NA TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTTTAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGCCAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC TGGAGTTTGGAGGTTTGTTTCCTAACCTGAGGATATTTCTTATTTATTTAGAGCTATAGAGTGGCTGTGCAACTAAACCCAGACCAAGCACAGGCCTGGATGAACATGGGTGGCATCCAACACATCAAGGTAGGAGAATAATTCACTCCCATGTGGACCGGGCTTTCCCC control NA NA NA NA NA 37 320 0.0541004264986975 0.160856355942719 0.107478391220708 0.879065388232614 0.85 0.946493998723598 0.838053543672252 NA NA -0.8923935722249 -0.677197187729533 0.864532694116307 0.892273771197925 NA -0.784795379977216 NA TRUE NA NA NA NA NA NA TMTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMTC1 NA NA NA ENSG00000133687 ENSE00003584629 NA NA NA NA NA NA NA 3.06491591423056e-07 FALSE NA ENSE00000911292_000 ENSE00000911292 000 22 41725977 41726146 + 50 81 39 NA NA NA NA NA TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 NA NA NA NA NA NA TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG natural NA NA NA NA NA 1023 69 0.999273634555132 1 0.999636817277566 NA NA 0.999273634555132 1 NA NA 0 0 NA 0.999636817277566 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZC3H7B NA NA NA ENSG00000100403 ENSE00003546336 NA NA NA NA NA NA NA 0.990761551309557 TRUE NA ENSE00000911292_002 ENSE00000911292 002 22 41725977 41726146 + 50 81 39 G A 41725987 1080 11 TTGTGAGCCCAGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41329982 41329983 41329983 upstr_intron -40 -0.78 TTGTGAGCCCAGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 168 60 1 1 1 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 0 NA 0.999636817277566 NA 0.000363182722433908 NA FALSE NA 0 -0.572 NA NA NA ZC3H7B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:41329983 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 intron_variant 0.006008 0.12784 0.01048 0.156188 0.818743281769647 0.111799 0.990761551309557 TRUE 1.65256e-05 ENSE00000911292_003 ENSE00000911292 003 22 41725977 41726146 + 50 81 39 C A 41725990 1081 14 TTGTGAGCCCGGGAAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41329985 41329986 41329986 upstr_intron -37 -0.72 TTGTGAGCCCGGGAAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 162 28 1 1 1 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 0 NA 0.999636817277566 NA 0.000363182722433908 NA FALSE NA 0.002 0.643 . intron_variant MODIFIER ZC3H7B HGNC 30869 ENST00000352645 5/22 1 NA GCA C,A 8.237e-06 22:41329986 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 intron_variant 0.804661 0.28098 0.04436 0.156188 0.836042256891058 0.891459 0.990761551309557 TRUE 4.12613e-06 ENSE00000911292_005 ENSE00000911292 005 22 41725977 41726146 + 50 81 39 G A 41726004 1083 28 TTGTGAGCCCGGGCAGACTGACCCACCACCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41329999 41330000 41330000 upstr_intron -23 -0.44 TTGTGAGCCCGGGCAGACTGACCCACCACCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 102 50 1 1 1 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 0 NA 0.999636817277566 NA 0.000363182722433908 NA FALSE NA 0 -3.339 . intron_variant MODIFIER ZC3H7B HGNC 30869 ENST00000352645 5/22 rs201723425 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGC G,A 5.766e-05 22:41330000 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 intron_variant -0.05878 0.07321 0.00266 0.115753 0.817562367081793 0.111799 0.990761551309557 TRUE 7.38086e-05 ENSE00000911292_006 ENSE00000911292 006 22 41725977 41726146 + 50 81 39 C T 41726007 1084 31 TTGTGAGCCCGGGCAGACTGACCCACCGCCTTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41330002 41330003 41330003 upstr_intron -20 -0.38 TTGTGAGCCCGGGCAGACTGACCCACCGCCTTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 45 67 1 1 1 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 0 NA 0.999636817277566 NA 0.000363182722433908 NA FALSE NA 0.001 1.347 . intron_variant MODIFIER ZC3H7B HGNC 30869 ENST00000352645 5/22 1 NA CCT C,T 2.471e-05 22:41330003 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 intron_variant 0.316638 0.28552 0.29692 0.256867 0.673443679595089 0.189309 0.990761551309557 TRUE 1.63701e-05 ENSE00000911292_007 ENSE00000911292 007 22 41725977 41726146 + 50 81 39 C T 41726024 1085 48 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGTAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41330019 41330020 41330020 upstr_intron -3 -0.04 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGTAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 223 39 1 1 1 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 0 NA 0.999636817277566 NA 0.000363182722433908 NA FALSE NA 0.104 0.924 . splice_region_variant&intron_variant LOW ZC3H7B HGNC 30869 ENST00000352645 5/22 1 NA GCA C,T 2.471e-05 22:41330020 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 splice_region_variant 0.927535 0.95075 0.72373 0.256867 0.726708631821961 0.3723 0.990761551309557 TRUE 1.22358e-05 ENSE00000911292_009 ENSE00000911292 009 22 41725977 41726146 + 50 81 39 C T 41726035 1087 59 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGTGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41330030 41330031 41330031 exon 9 0.111111111111111 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGTGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 17 165 1 1 1 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 0 NA 0.999636817277566 NA 0.000363182722433908 NA FALSE NA 0.019 -2.306 . synonymous_variant LOW ZC3H7B HGNC 30869 ENST00000352645 6/23 rs375770305 1 NA T:0.0002 T:0 GCG C,T 8.237e-06 22:41330031 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 synonymous_variant 2.416013 0.87182 0.01757 0.719381 0.82318438909502 0 0.990761551309557 TRUE 1.22226e-05 ENSE00000911292_014 ENSE00000911292 014 22 41725977 41726146 + 50 81 39 G A 41726085 1092 109 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCACAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41330080 41330081 41330081 exon -23 0.728395061728395 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCACAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 152 215 1 1 1 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 0 NA 0.999636817277566 NA 0.000363182722433908 NA FALSE NA 1 7.808 . missense_variant MODERATE ZC3H7B HGNC 30869 ENST00000352645 6/23 1 deleterious(0) probably_damaging(0.995) NA CGC G,A 8.236e-06 22:41330081 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 missense_variant 7.584946 0.99032 0.98972 0.719381 0.999569974171944 0 0.990761551309557 TRUE NA ENSE00000911292_020 ENSE00000911292 020 22 41725977 41726146 + 50 81 39 G A 41726120 1098 144 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCAGGACCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41330115 41330116 41330116 downstr_intron 13 1.34210526315789 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCAGGACCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 45 519 1 1 1 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 0 NA 0.999636817277566 NA 0.000363182722433908 NA FALSE NA 0.045 -0.62 . intron_variant MODIFIER ZC3H7B HGNC 30869 ENST00000352645 6/22 1 NA CGG G,A 8.238e-06 22:41330116 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 intron_variant -0.414569 0.11055 0.02217 0.099367 0.495441084313628 0.0988047 0.990761551309557 TRUE 4.07947e-06 ENSE00000911292_021 ENSE00000911292 021 22 41725977 41726146 + 50 81 39 C T 41726124 1099 148 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGATCCTGGGAGGGTCGGTGTGGACG 41329972 41330142 41330119 41330120 41330120 downstr_intron 17 1.44736842105263 TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGATCCTGGGAGGGTCGGTGTGGACG TTGTGAGCCCGGGCAGACTGACCCACCGCCCTGTGTCTTGTCCTCTGCAGGATGAAAGCGTGACTCAGCTTGGTCAGGAGCTGGCCCAGAAACTGGGGCTGCGAGTTCGCAAGGCGTATAAGAGGCCCCAGGTAGGTGGGTTCGGGACCCTGGGAGGGTCGGTGTGGACG mutant NA NA NA NA NA 80 440 1 0.997985521923775 0.998992760961888 NA NA 0.999273634555132 1 NA NA 0.000726365444867816 -0.00201447807622468 NA 0.999636817277566 NA -0.000644056315678432 NA FALSE NA 0.005 -0.89 . intron_variant MODIFIER ZC3H7B HGNC 30869 ENST00000352645 6/22 1 NA ACC C,T 8.238e-06 22:41330120 ZC3H7B HGNC Symbol protein_coding 58625 ENSG00000100403 ENSE00003546336 intron_variant 0.147045 0.15462 0.03327 0.099367 0.288663058069297 0.0996905 0.990761551309557 TRUE 8.16007e-06 ENSE00000911610_000 ENSE00000911610 000 8 33353007 33353176 + 53 75 42 NA NA NA NA NA CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 NA NA NA NA NA NA GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG natural 58 113 0.999559185959251 0.999615803112633 0.999587494535942 3527 3415 0.970408926246496 0.989183457184017 0.979796191715256 0.999559185959251 0.999615803112633 0.970408926246496 0.989183457184017 0 0 0 0 0.999587494535942 0.979796191715256 0 0 0 FALSE FALSE NA NA NA NA NA MAK16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAK16 NA NA NA ENSG00000198042 ENSE00003593628 NA NA NA NA NA NA NA 0.993980456078529 TRUE NA ENSE00000912116_000 ENSE00000912116 000 18 46162931 46163100 + 54 72 44 NA NA NA NA NA TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 NA NA NA NA NA NA TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT natural NA NA NA NA NA 1861 1546 0.837410692085815 0.863454194646847 0.850432443366331 NA NA 0.837410692085815 0.863454194646847 NA NA 0 0 NA 0.850432443366331 NA 0 NA FALSE NA NA NA NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTIF NA NA NA ENSG00000134030 ENSE00003665944 NA NA NA NA NA NA NA 0.982754580423637 TRUE NA ENSE00000912116_003 ENSE00000912116 003 18 46162931 46163100 + 54 72 44 C T 46162955 515 25 TGAGCATGGGCCTGGCTGTCCTGCTGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636583 48636584 48636584 upstr_intron -30 -0.537037037037037 TGAGCATGGGCCTGGCTGTCCTGCTGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 58 394 0.952079363482868 0.968930785902038 0.960505074692453 NA NA 0.837410692085815 0.863454194646847 NA NA 0.114668671397053 0.10547659125519 NA 0.850432443366331 NA 0.110072631326122 NA FALSE NA 0 0.639 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000588345 2/3 1 NA CCG C,T 1.652e-05 18:48636584 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant 0.872988 0.51428 0.10545 0.164513 0.709676572503396 0.288741 0.982754580423637 TRUE NA ENSE00000912116_005 ENSE00000912116 005 18 46162931 46163100 + 54 72 44 A G 46162963 517 33 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGGTCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636591 48636592 48636592 upstr_intron -22 -0.388888888888889 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGGTCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 325 172 0.0015072857821355 0 0.000753642891067748 NA NA 0.837410692085815 0.863454194646847 NA NA -0.83590340630368 -0.863454194646847 NA 0.850432443366331 NA -0.849678800475264 NA TRUE NA 0.999 4.102 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000588345 2/3 1 NA GAT A,G 8.254e-06 18:48636592 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant 1.38951 0.89015 0.8856 0.164513 0.617904392231246 0.929658 0.982754580423637 TRUE NA ENSE00000912116_006 ENSE00000912116 006 18 46162931 46163100 + 54 72 44 C T 46162965 518 35 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATTGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636593 48636594 48636594 upstr_intron -20 -0.351851851851852 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATTGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 42 20 1 1 1 NA NA 0.837410692085815 0.863454194646847 NA NA 0.162589307914185 0.136545805353153 NA 0.850432443366331 NA 0.149567556633669 NA FALSE NA 0.75 1.293 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636594 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant 0.307185 0.62022 0.37871 0.164513 0.637649652477313 0.202142 0.982754580423637 TRUE 5.82696e-06 ENSE00000912116_007 ENSE00000912116 007 18 46162931 46163100 + 54 72 44 C G 46162965 519 35 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATGGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636593 48636594 48636594 upstr_intron -20 -0.351851851851852 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATGGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 1292 250 0.765000488827856 0.805204714305194 0.785102601566525 NA NA 0.837410692085815 0.863454194646847 NA NA -0.0724102032579591 -0.0582494803416536 NA 0.850432443366331 NA -0.0653298417998063 NA FALSE NA 0.75 1.293 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTIF NA NA NA ENSG00000134030 ENSE00003665944 intron_variant 0.191949 0.62344 0.39816 0.164513 0.55757447710069 0.202142 0.982754580423637 TRUE 5.82696e-06 ENSE00000912116_009 ENSE00000912116 009 18 46162931 46163100 + 54 72 44 G A 46162966 521 36 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCACTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636594 48636595 48636595 upstr_intron -19 -0.333333333333333 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCACTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 153 568 0.999730713096352 1 0.999865356548176 NA NA 0.837410692085815 0.863454194646847 NA NA 0.162320021010537 0.136545805353153 NA 0.850432443366331 NA 0.149432913181845 NA FALSE NA 0 -3.095 NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636595 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant -0.175797 0.11737 0.00535 0.164513 0.709696816690197 0.263706 0.982754580423637 TRUE NA ENSE00000912116_010 ENSE00000912116 010 18 46162931 46163100 + 54 72 44 C T 46162967 522 37 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGTTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636595 48636596 48636596 upstr_intron -18 -0.314814814814815 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGTTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 22 309 1 1 1 NA NA 0.837410692085815 0.863454194646847 NA NA 0.162589307914185 0.136545805353153 NA 0.850432443366331 NA 0.149567556633669 NA FALSE NA 0 -0.508 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000588345 2/3 1 NA GCT C,T 8.249e-06 18:48636596 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant 0.541513 0.19899 0.05962 0.164513 0.608624886866374 0.186495 0.982754580423637 TRUE NA ENSE00000912116_011 ENSE00000912116 011 18 46162931 46163100 + 54 72 44 C A 46162969 523 39 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTACTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636597 48636598 48636598 upstr_intron -16 -0.277777777777778 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTACTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 159 305 1 0.997065041778511 0.998532520889255 NA NA 0.837410692085815 0.863454194646847 NA NA 0.162589307914185 0.133610847131664 NA 0.850432443366331 NA 0.148100077522924 NA FALSE NA 0.004 1.523 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000588345 2/3 1 NA TCC C,A 2.474e-05 18:48636598 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant 0.84603 0.254 0.0919 0.164513 0.632303320690784 0.259109 0.982754580423637 TRUE NA ENSE00000912116_013 ENSE00000912116 013 18 46162931 46163100 + 54 72 44 G T 46162981 525 51 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTTCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636609 48636610 48636610 upstr_intron -4 -0.0555555555555556 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTTCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant 21 79 0.922090381241667 0.85 0.886045190620833 1619 521 0.88929280144929 0.912956690496509 0.9011247459729 NA NA 0.837410692085815 0.863454194646847 NA NA 0.0518821093634749 0.0495024958496617 NA 0.850432443366331 NA 0.0506923026065683 NA FALSE NA 0.303 0.403 . splice_region_variant&intron_variant LOW CTIF HGNC 23925 ENST00000588345 2/3 1 NA TGC G,T 8.256e-05 18:48636610 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 splice_region_variant 1.783611 0.85386 0.3614 0.294411 0.84844327429308 0.421067 0.982754580423637 TRUE 5.52503e-05 ENSE00000912116_014 ENSE00000912116 014 18 46162931 46163100 + 54 72 44 A G 46162988 526 58 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGGCAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636616 48636617 48636617 exon 4 0.0555555555555556 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGGCAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 72 683 1 0.994166230504611 0.997083115252306 NA NA 0.837410692085815 0.863454194646847 NA NA 0.162589307914185 0.130712035857764 NA 0.850432443366331 NA 0.146650671885974 NA FALSE NA 1 1.994 . missense_variant MODERATE CTIF HGNC 23925 ENST00000588345 3/4 1 deleterious_low_confidence(0.01) benign(0.41) NA GAC A,G 8.255e-06 18:48636617 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 missense_variant 5.297634 0.90891 0.58164 0.732398 0.987850826563426 0 0.982754580423637 TRUE NA ENSE00000912116_016 ENSE00000912116 016 18 46162931 46163100 + 54 72 44 C T 46162992 528 62 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGTGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636620 48636621 48636621 exon 8 0.111111111111111 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGTGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 39 267 0.998939979365871 1 0.999469989682935 NA NA 0.837410692085815 0.863454194646847 NA NA 0.161529287280055 0.136545805353153 NA 0.850432443366331 NA 0.149037546316604 NA FALSE NA 0.661 2.259 rs140616744 missense_variant MODERATE CTIF HGNC 23925 ENST00000588345 3/4 rs140616744 1 tolerated_low_confidence(0.57) benign(0.002) NA T:0.0002 T:0.0003 GCG C,T 8.251e-05 18:48636621 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 missense_variant 3.129818 0.88546 0.44764 0.732398 0.978872997493129 0 0.982754580423637 TRUE NA ENSE00000912116_017 ENSE00000912116 017 18 46162931 46163100 + 54 72 44 G A 46162993 529 63 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCAGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636621 48636622 48636622 exon 9 0.125 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCAGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant 24 32 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.837410692085815 0.863454194646847 NA NA NA NA NA 0.850432443366331 NA NA NA NA NA 0.486 -0.592 rs35875164 synonymous_variant LOW CTIF HGNC 23925 ENST00000588345 3/4 rs35875164 1 A:0.0040 A:0.0008 A:0.0058 NA A:0 A:0.0099 A:0.0051 A:0.0018 A:0.0076 CGG G,A 0.00664 18:48636622 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 synonymous_variant 2.065558 0.85689 0.28249 0.732398 0.815892289540419 0 0.982754580423637 TRUE 0.00622743 ENSE00000912116_019 ENSE00000912116 019 18 46162931 46163100 + 54 72 44 G T 46162998 531 68 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTTCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636626 48636627 48636627 exon 14 0.194444444444444 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTTCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 30 94 0.95 1 0.975 NA NA 0.837410692085815 0.863454194646847 NA NA 0.112589307914185 0.136545805353153 NA 0.850432443366331 NA 0.124567556633669 NA FALSE NA 1 3.186 . missense_variant MODERATE CTIF HGNC 23925 ENST00000588345 3/4 1 tolerated_low_confidence(0.17) benign(0.118) NA TGC G,T 8.245e-06 18:48636627 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 missense_variant 3.169007 0.94205 0.79202 0.732398 0.979775361534242 0 0.982754580423637 TRUE NA ENSE00000912116_020 ENSE00000912116 020 18 46162931 46163100 + 54 72 44 G A 46163001 532 71 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAACGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636629 48636630 48636630 exon 17 0.236111111111111 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAACGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 201 509 1 1 1 NA NA 0.837410692085815 0.863454194646847 NA NA 0.162589307914185 0.136545805353153 NA 0.850432443366331 NA 0.149567556633669 NA FALSE NA 0.537 0.667 . missense_variant MODERATE CTIF HGNC 23925 ENST00000588345 3/4 1 tolerated_low_confidence(0.27) benign(0.001) NA AGC G,A 8.244e-06 18:48636630 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 missense_variant -0.352064 0.31712 0.2147 0.732398 0.901385418521707 0 0.982754580423637 TRUE NA ENSE00000912116_022 ENSE00000912116 022 18 46162931 46163100 + 54 72 44 C T 46163002 534 72 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGTGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636630 48636631 48636631 exon 18 0.25 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGTGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 308 466 0.926826981143762 0.945781383092606 0.936304182118184 NA NA 0.837410692085815 0.863454194646847 NA NA 0.0894162890579466 0.0823271884457585 NA 0.850432443366331 NA 0.0858717387518526 NA FALSE NA 0.057 -1.847 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636631 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 synonymous_variant 1.378826 0.14165 0.01735 0.732398 0.551954959309484 0 0.982754580423637 TRUE NA ENSE00000912116_024 ENSE00000912116 024 18 46162931 46163100 + 54 72 44 C G 46163007 536 77 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACGGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636635 48636636 48636636 exon 23 0.319444444444444 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACGGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant 20 40 0.85 0.85 0.85 41 188 0.983901863238746 0.921361660130918 0.952631761684832 NA NA 0.837410692085815 0.863454194646847 NA NA 0.146491171152931 0.057907465484071 NA 0.850432443366331 NA 0.102199318318501 NA FALSE NA 0.995 0.306 NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636636 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 missense_variant 0.058489 0.85916 0.30934 0.732398 0.0939149687304361 0 0.982754580423637 TRUE 2.20854e-05 ENSE00000912116_027 ENSE00000912116 027 18 46162931 46163100 + 54 72 44 G A 46163022 539 92 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTATTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636650 48636651 48636651 exon -35 0.527777777777778 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTATTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 361 1580 0.973879115113315 0.991390405779608 0.982634760446461 NA NA 0.837410692085815 0.863454194646847 NA NA 0.1364684230275 0.12793621113276 NA 0.850432443366331 NA 0.13220231708013 NA FALSE NA 0.992 1.655 . missense_variant MODERATE CTIF HGNC 23925 ENST00000588345 3/4 rs201591581 1 tolerated_low_confidence(1) benign(0.001) NA TGT G,A 1.648e-05 18:48636651 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 missense_variant 2.345227 0.90527 0.60723 0.6512 0.985045721189335 0 0.982754580423637 TRUE 1.28026e-05 ENSE00000912116_032 ENSE00000912116 032 18 46162931 46163100 + 54 72 44 A G 46163035 544 105 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGGGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636663 48636664 48636664 exon -22 0.708333333333333 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGGGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 285 815 0.983764227132813 0.966449727393838 0.975106977263326 NA NA 0.837410692085815 0.863454194646847 NA NA 0.146353535046998 0.102995532746991 NA 0.850432443366331 NA 0.124674533896994 NA FALSE NA 1 0.559 NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636664 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 synonymous_variant 0.894817 0.91293 0.56386 0.660085 0.672503174929055 0 0.982754580423637 TRUE 8.58531e-06 ENSE00000912116_034 ENSE00000912116 034 18 46162931 46163100 + 54 72 44 C T 46163039 546 109 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGTGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636667 48636668 48636668 exon -18 0.763888888888889 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGTGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 17 16 0.95697059628519 0.815550444874462 0.886260520579826 NA NA 0.837410692085815 0.863454194646847 NA NA 0.119559904199375 -0.0479037497723857 NA 0.850432443366331 NA 0.0358280772134946 NA FALSE NA 0.995 2.348 . stop_gained HIGH CTIF HGNC 23925 ENST00000588345 3/4 1 NA HC GCG C,T 8.239e-06 18:48636668 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 stop_gained 13.672617 0.91662 0.56804 0.6512 0.997904965680727 0 0.982754580423637 TRUE NA ENSE00000912116_038 ENSE00000912116 038 18 46162931 46163100 + 54 72 44 C A 46163049 550 119 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCAACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636677 48636678 48636678 exon -8 0.902777777777778 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCAACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 1480 16 0.936849664404615 0.979700103559908 0.958274883982261 NA NA 0.837410692085815 0.863454194646847 NA NA 0.0994389723187997 0.11624590891306 NA 0.850432443366331 NA 0.10784244061593 NA FALSE NA 0.003 0.595 NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636678 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 missense_variant 2.464261 0.40772 0.13333 0.6512 0.974569724069802 0 0.982754580423637 TRUE 1.74369e-05 ENSE00000912116_039 ENSE00000912116 039 18 46162931 46163100 + 54 72 44 G A 46163061 551 131 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGAGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636689 48636690 48636690 downstr_intron 5 1.11627906976744 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGAGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 431 59 0.00267305087301532 0.0142486167382985 0.0084608338056569 NA NA 0.837410692085815 0.863454194646847 NA NA -0.8347376412128 -0.849205577908549 NA 0.850432443366331 NA -0.841971609560674 NA TRUE NA 1 4.695 . splice_region_variant&intron_variant LOW CTIF HGNC 23925 ENST00000588345 3/3 rs561672289 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGG G,A 3.297e-05 18:48636690 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 splice_region_variant 2.137308 0.93938 0.81245 0.093295 0.959396723225888 0.986011 0.982754580423637 TRUE 2.25339e-05 ENSE00000912116_040 ENSE00000912116 040 18 46162931 46163100 + 54 72 44 C A 46163074 552 144 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGAGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636702 48636703 48636703 downstr_intron 18 1.41860465116279 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGAGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 513 111 0.999033350077564 0.982917382577882 0.990975366327723 NA NA 0.837410692085815 0.863454194646847 NA NA 0.161622657991749 0.119463187931035 NA 0.850432443366331 NA 0.140542922961392 NA FALSE NA 0 -1.511 NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636703 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant -0.054146 0.17016 0.03089 0.093295 0.50696660404058 0.218998 0.982754580423637 TRUE NA ENSE00000912116_042 ENSE00000912116 042 18 46162931 46163100 + 54 72 44 G A 46163075 554 145 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCACTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636703 48636704 48636704 downstr_intron 19 1.44186046511628 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCACTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 54 47 1 0.970678348911216 0.985339174455608 NA NA 0.837410692085815 0.863454194646847 NA NA 0.162589307914185 0.107224154264368 NA 0.850432443366331 NA 0.134906731089276 NA FALSE NA 0 -0.725 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000588345 3/3 rs376205126 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0001 CGC G,A 2.475e-05 18:48636704 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant -0.029728 0.20503 0.05008 0.093295 0.475006944005085 0.218998 0.982754580423637 TRUE NA ENSE00000912116_043 ENSE00000912116 043 18 46162931 46163100 + 54 72 44 C G 46163076 555 146 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGGTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636704 48636705 48636705 downstr_intron 20 1.46511627906977 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGGTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 676 1175 0.995666969047422 0.995549875160936 0.995608422104179 NA NA 0.837410692085815 0.863454194646847 NA NA 0.158256276961607 0.132095680514088 NA 0.850432443366331 NA 0.145175978737847 NA FALSE NA 0 0.695 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636705 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant 0.145391 0.24607 0.07912 0.093295 0.374178064966429 0.217715 0.982754580423637 TRUE 2.92954e-05 ENSE00000912116_044 ENSE00000912116 044 18 46162931 46163100 + 54 72 44 C A 46163076 556 146 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGATCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636704 48636705 48636705 downstr_intron 20 1.46511627906977 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGATCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 757 22 0.997302822425498 0.942928950093882 0.97011588625969 NA NA 0.837410692085815 0.863454194646847 NA NA 0.159892130339683 0.0794747554470341 NA 0.850432443366331 NA 0.119683442893358 NA FALSE NA 0 0.695 NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTIF NA NA NA ENSG00000134030 ENSE00003665944 intron_variant 0.281168 0.23999 0.07093 0.093295 0.415240335280822 0.217715 0.982754580423637 TRUE 1.46477e-05 ENSE00000912116_045 ENSE00000912116 045 18 46162931 46163100 + 54 72 44 C G 46163078 557 148 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTGTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636706 48636707 48636707 downstr_intron 22 1.51162790697674 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTGTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 184 185 0.930074495024443 0.970167641284623 0.950121068154533 NA NA 0.837410692085815 0.863454194646847 NA NA 0.0926638029386276 0.106713446637775 NA 0.850432443366331 NA 0.0996886247882015 NA FALSE NA 0 0.172 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000588345 3/3 1 NA TCT C,G 8.251e-06 18:48636707 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant 0.19949 0.2279 0.06389 0.093295 0.499584839246103 0.217715 0.982754580423637 TRUE 4.95648e-06 ENSE00000912116_046 ENSE00000912116 046 18 46162931 46163100 + 54 72 44 G C 46163080 558 150 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTCTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636708 48636709 48636709 downstr_intron 24 1.55813953488372 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTCTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 211 102 0.995628493388225 0.960404387519759 0.978016440453992 NA NA 0.837410692085815 0.863454194646847 NA NA 0.15821780130241 0.0969501928729115 NA 0.850432443366331 NA 0.127583997087661 NA FALSE NA 0 -3.788 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:48636709 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant -0.412265 0.1053 0.01997 0.093295 0.587894689912116 0.151839 0.982754580423637 TRUE 0.00121655 ENSE00000912116_047 ENSE00000912116 047 18 46162931 46163100 + 54 72 44 G T 46163080 559 150 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTTTCTGGGGGTGTCCTATGTCT 48636559 48636729 48636708 48636709 48636709 downstr_intron 24 1.55813953488372 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTTTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 127 37 0.967707949712938 1 0.983853974856469 NA NA 0.837410692085815 0.863454194646847 NA NA 0.130297257627123 0.136545805353153 NA 0.850432443366331 NA 0.133421531490138 NA FALSE NA 0 -3.788 NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTIF NA NA NA ENSG00000134030 ENSE00003665944 intron_variant -0.289511 0.10128 0.01425 0.093295 0.699016054599873 0.151839 0.982754580423637 TRUE 2.2119e-05 ENSE00000912116_049 ENSE00000912116 049 18 46162931 46163100 + 54 72 44 G T 46163087 561 157 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGTGTGTCCTATGTCT 48636559 48636729 48636715 48636716 48636716 downstr_intron 31 1.72093023255814 TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGTGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT mutant NA NA NA NA NA 75 127 0.963864347073913 0.963545918437232 0.963705132755573 NA NA 0.837410692085815 0.863454194646847 NA NA 0.126453654988098 0.100091723790385 NA 0.850432443366331 NA 0.113272689389242 NA FALSE NA 0 -0.039 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000588345 3/3 1 NA GGG G,T 8.257e-06 18:48636716 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003665944 intron_variant 0.000478 0.18196 0.05183 0.093295 0.682207936361498 0.151839 0.982754580423637 TRUE 5.72639e-06 ENSE00000912116_BRK ENSE00000912116 BRK 18 46162931 46163100 + 54 72 44 A,G; T,T NA NA NA TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCTTTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGCCAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT 48636559 48636729 NA NA NA NA NA NA TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCTTTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGCCAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT TGAGCATGGGCCTGGCTGTCCTGCCGTCACTGATCGCTCCTTTCTGTTCTGCAGTGGACAGCGGACTGCAGCGAACCGCTGGACAGCAGCTGTTCCTTCTCCCGAGGGCGAGCCCCCCCACAGCAGGTAGGGAACCAGCTCTGCGCTCTGTCTGGGGGTGTCCTATGTCT control NA NA NA NA NA 242 296 0 0 0 NA NA 0.837410692085815 0.863454194646847 NA NA -0.837410692085815 -0.863454194646847 NA 0.850432443366331 NA -0.850432443366331 NA TRUE NA NA NA NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTIF NA NA NA ENSG00000134030 ENSE00003665944 NA NA NA NA NA NA NA 0.982754580423637 TRUE NA ENSE00000912795_000 ENSE00000912795 000 15 31340038 31340207 - 54 51 65 NA NA NA NA NA AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 NA NA NA NA NA NA AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT natural 44 76 0.99456491571117 0.981763747857118 0.988164331784144 2802 1879 0.992551266069907 0.987564492192898 0.990057879131402 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 0 0 0 0 0.988164331784144 0.990057879131402 0 0 0 FALSE FALSE NA NA NA NA NA TRPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPM1 NA NA NA ENSG00000134160 ENSE00003549251 NA NA NA NA NA NA NA 1.16831980652389e-31 FALSE NA ENSE00000912795_001 ENSE00000912795 001 15 31340038 31340207 - 54 51 65 A G 31340052 200 156 AAATGATTTTGTGAGAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047848 31047849 31047849 downstr_intron 40 1.75471698113208 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTCTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 819 996 0.889303283059336 0.995206185353033 0.942254734206185 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA -0.10324798301057 0.00764169316013563 0.988164331784144 0.990057879131402 NA -0.0478031449252173 NA FALSE NA 0.002 2.042 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 13/26 1 NA AAA A,G 2.483e-05 15:31047849 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant 0.528539 0.18259 0.02104 0.053691 0.805202581885604 0.046875 1.16831980652389e-31 FALSE 1.21878e-05 ENSE00000912795_002 ENSE00000912795 002 15 31340038 31340207 - 54 51 65 A T 31340055 201 153 AAATGATTTTGTGAAAGTTGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047851 31047852 31047852 downstr_intron 37 1.69811320754717 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCAACTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant 20 10 1 1 1 282 558 0.99719381028366 1 0.99859690514183 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 0.00543508428882999 0.0182362521428823 0.00464254421375365 0.0124355078071025 0.988164331784144 0.990057879131402 0.0118356682158561 0.00853902601042805 0.00329664220542808 FALSE FALSE 0 0.786 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 13/26 1 NA GAT A,T 8.276e-06 15:31047852 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant 0.138026 0.23026 0.1937 0.053691 0.793023659681089 0.046875 1.16831980652389e-31 FALSE NA ENSE00000912795_004 ENSE00000912795 004 15 31340038 31340207 - 54 51 65 G A 31340064 203 144 AAATGATTTTGTGAAAGATGCCAACAAGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047860 31047861 31047861 downstr_intron 28 1.52830188679245 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACTTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 491 736 0.99314536759557 1 0.996572683797785 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA 0.000594101525663193 0.0124355078071025 0.988164331784144 0.990057879131402 NA 0.00651480466638282 NA FALSE NA 0 0.53 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 13/26 rs553752597 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGG G,A 8.276e-06 15:31047861 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant 0.287915 0.21467 0.0461 0.053691 0.363993640176013 0.552456 1.16831980652389e-31 FALSE 4.0622e-06 ENSE00000912795_005 ENSE00000912795 005 15 31340038 31340207 - 54 51 65 C T 31340087 204 121 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGATTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047883 31047884 31047884 downstr_intron 5 1.09433962264151 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAATCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant 106 34 0 0 0 112 198 0.145948512048971 0 0.0729742560244855 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 -0.99456491571117 -0.981763747857118 -0.846602754020936 -0.987564492192898 0.988164331784144 0.990057879131402 -0.988164331784144 -0.917083623106917 0.0710807086772273 TRUE TRUE 1 4.361 . splice_region_variant&intron_variant LOW TRPM1 HGNC 7146 ENST00000558445 13/26 1 NA ACT C,T 1.655e-05 15:31047884 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 splice_region_variant 2.116772 0.98299 0.69401 0.053691 0.935896037491975 0.963001 1.16831980652389e-31 FALSE 8.12321e-06 ENSE00000912795_006 ENSE00000912795 006 15 31340038 31340207 - 54 51 65 C T 31340092 205 116 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACTTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047888 31047889 31047889 exon -1 1 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAAGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 560 68 0 0.134572027771556 0.0672860138857782 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA -0.992551266069907 -0.852992464421341 0.988164331784144 0.990057879131402 NA -0.922771865245624 NA TRUE NA 1 4.312 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:31047889 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 splice_region_variant 2.173125 0.98765 0.95945 0.487112 0.918081078628086 0 1.16831980652389e-31 FALSE 8.12328e-06 ENSE00000912795_007 ENSE00000912795 007 15 31340038 31340207 - 54 51 65 C A 31340092 206 116 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACATTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047888 31047889 31047889 exon -1 1 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAATGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant 79 35 0 0 0 NA NA NA NA NA 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 -0.99456491571117 -0.981763747857118 NA NA 0.988164331784144 0.990057879131402 -0.988164331784144 NA NA NA TRUE 1 4.312 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPM1 NA NA NA ENSG00000134160 ENSE00003549251 missense_variant 4.86197 0.98886 0.98539 0.487112 0.998606862745809 0 1.16831980652389e-31 FALSE 8.12328e-06 ENSE00000912795_008 ENSE00000912795 008 15 31340038 31340207 - 54 51 65 T C 31340096 207 112 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTCTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047892 31047893 31047893 exon -5 0.92156862745098 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAGAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 115 653 0.994505377253355 1 0.997252688626677 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA 0.00195411118344802 0.0124355078071025 0.988164331784144 0.990057879131402 NA 0.00719480949527523 NA FALSE NA 1 4.494 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:31047893 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 missense_variant 1.608107 0.98533 0.96056 0.487112 0.992774731628627 0 1.16831980652389e-31 FALSE 8.12315e-06 ENSE00000912795_009 ENSE00000912795 009 15 31340038 31340207 - 54 51 65 T G 31340096 208 112 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTGTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047892 31047893 31047893 exon -5 0.92156862745098 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGACAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 283 957 0.991654216275258 0.984060322686407 0.987857269480832 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA -0.000897049794648774 -0.0035041695064908 0.988164331784144 0.990057879131402 NA -0.00220060965056978 NA FALSE NA 1 4.494 NA NA NA TRPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPM1 NA NA NA ENSG00000134160 ENSE00003549251 missense_variant 4.712428 0.98634 0.98544 0.487112 0.997490617955853 0 1.16831980652389e-31 FALSE 4.06157e-06 ENSE00000912795_010 ENSE00000912795 010 15 31340038 31340207 - 54 51 65 C T 31340110 209 98 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACTAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047906 31047907 31047907 exon -19 0.647058823529412 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTAGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant 84 140 0.85 0.85 0.85 955 930 0.870690996656667 0.8 0.835345498328333 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 -0.14456491571117 -0.131763747857118 -0.12186026941324 -0.187564492192898 0.988164331784144 0.990057879131402 -0.138164331784144 -0.154712380803069 0.0165480490189247 FALSE FALSE 0.997 0.524 . synonymous_variant LOW TRPM1 HGNC 7146 ENST00000558445 13/27 1 NA CCA C,T 8.275e-06 15:31047907 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 synonymous_variant 1.238827 0.96765 0.76361 0.487112 0.742649428745896 0 1.16831980652389e-31 FALSE 4.06167e-06 ENSE00000912795_012 ENSE00000912795 012 15 31340038 31340207 - 54 51 65 C G 31340113 211 95 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGGAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047909 31047910 31047910 exon -22 0.588235294117647 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTCCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 1296 21 0.999331247616248 1 0.999665623808124 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA 0.00677998154634118 0.0124355078071025 0.988164331784144 0.990057879131402 NA 0.00960774467672182 NA FALSE NA 1 1.599 NA NA NA TRPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:31047910 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 synonymous_variant 1.010163 0.97846 0.95441 0.487112 0.821555156678226 0 1.16831980652389e-31 FALSE 4.06164e-06 ENSE00000912795_013 ENSE00000912795 013 15 31340038 31340207 - 54 51 65 C T 31340136 212 72 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACTCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047932 31047933 31047933 exon 7 0.137254901960784 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGAGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant 15 30 0.994784284124077 0.965089633852998 0.979936958988537 NA NA NA NA NA 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 0.000219368412906928 -0.0166741140041198 NA NA 0.988164331784144 0.990057879131402 -0.00822737279560642 NA NA NA FALSE 1 6.999 . missense_variant MODERATE TRPM1 HGNC 7146 ENST00000558445 13/27 rs372438509 1 deleterious(0.02) probably_damaging(0.956) NA T:0 T:0.0001 CCC C,T 8.274e-06 15:31047933 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 missense_variant 6.900353 0.99333 0.99453 0.487112 0.998737232955298 0 1.16831980652389e-31 FALSE 4.0619e-06 ENSE00000912795_014 ENSE00000912795 014 15 31340038 31340207 - 54 51 65 A G 31340152 213 56 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGGAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047948 31047949 31047949 upstr_intron -10 -0.138461538461538 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTCCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant 173 19 0.052172101450743 0 0.0260860507253715 NA NA NA NA NA 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 -0.942392814260427 -0.981763747857118 NA NA 0.988164331784144 0.990057879131402 -0.962078281058772 NA NA NA TRUE 1 7.605 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 12/26 rs202224865 1 G:0.0016 G:0 G:0.0043 NA G:0 G:0.005 G:0 G:0 G:0.0035 GAA A,G 0.001854 15:31047949 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant 1.415219 0.9852 0.99234 0.053691 0.818692268092652 0.802776 1.16831980652389e-31 FALSE 0.00171831 ENSE00000912795_015 ENSE00000912795 015 15 31340038 31340207 - 54 51 65 G A 31340154 214 54 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAACATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047950 31047951 31047951 upstr_intron -12 -0.169230769230769 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGTTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 1083 973 0.997968445742611 1 0.998984222871306 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA 0.00541717967270439 0.0124355078071025 0.988164331784144 0.990057879131402 NA 0.00892634373990342 NA FALSE NA 0.807 0.124 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 12/26 1 NA AGC G,A 8.275e-06 15:31047951 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant 0.323303 0.30973 0.03088 0.053691 0.556784751999545 0.0805013 1.16831980652389e-31 FALSE 8.12493e-06 ENSE00000912795_016 ENSE00000912795 016 15 31340038 31340207 - 54 51 65 G A 31340166 215 42 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTATTAAATATGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047962 31047963 31047963 upstr_intron -24 -0.353846153846154 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAATACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 74 219 1 1 1 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA 0.00744873393009349 0.0124355078071025 0.988164331784144 0.990057879131402 NA 0.00994212086859797 NA FALSE NA 0 -1.187 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 12/26 1 NA TGT G,A 8.275e-06 15:31047963 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant 0.04772 0.10897 0.0029 0.053691 0.43271447960555 0.046323 1.16831980652389e-31 FALSE 4.06319e-06 ENSE00000912795_017 ENSE00000912795 017 15 31340038 31340207 - 54 51 65 T A 31340167 216 41 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTATCACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT 31047834 31048004 31047963 31047964 31047964 upstr_intron -25 -0.369230769230769 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTATCACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 499 374 0.994941165054122 0.991014258687486 0.992977711870804 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA 0.00238989898421527 0.00344976649458839 0.988164331784144 0.990057879131402 NA 0.00291983273940183 NA FALSE NA 0 0.143 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 12/26 rs372519136 1 NA A:0 A:0.0001 GTT T,A 8.275e-06 15:31047964 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant 0.146994 0.16628 0.05761 0.053691 0.544390841032608 0.046323 1.16831980652389e-31 FALSE 4.06309e-06 ENSE00000912795_018 ENSE00000912795 018 15 31340038 31340207 - 54 51 65 T C 31340174 217 34 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATACGTTTTTCTTGGCCAGGCGCGGTGGCTCACGCCT 31047834 31048004 31047970 31047971 31047971 upstr_intron -32 -0.476923076923077 AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACGTATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 1973 2369 0.866973459791695 0.997116004213214 0.932044732002455 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA -0.125577806278211 0.00955151202031612 0.988164331784144 0.990057879131402 NA -0.0580131471289475 NA FALSE NA 0 0.689 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 12/26 rs201165178 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATG T,C 8.275e-05 15:31047971 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant -0.041103 0.16303 0.01075 0.053691 0.355780292552457 0.046323 1.16831980652389e-31 FALSE 4.46995e-05 ENSE00000912795_021 ENSE00000912795 021 15 31340038 31340207 - 54 51 65 G T 31340189 220 19 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCATGCGCGGTGGCTCACGCCT 31047834 31048004 31047985 31047986 31047986 upstr_intron -47 -0.707692307692308 AGGCGTGAGCCACCGCGCATGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 2758 1111 0.991100449092026 0.997243602201953 0.99417202564699 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA -0.00145081697788063 0.00967911000905586 0.988164331784144 0.990057879131402 NA 0.00411414651558761 NA FALSE NA 0.001 0.529 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 12/26 1 NA AGG G,T 1.655e-05 15:31047986 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant -0.214046 0.07586 0.00475 0.053691 0.214051581205187 0.046323 1.16831980652389e-31 FALSE 1.22312e-05 ENSE00000912795_024 ENSE00000912795 024 15 31340038 31340207 - 54 51 65 G A 31340194 223 14 AAATGATTTTGTGAAAGATGCCAACAGGTAAGAATTGTAAAACAGTAGACTGACCTTTTTCACATCCCTCACCAGCAGATGAAGTGTGTTTGGTGGACCCAGTCTCTGAAAGAGAAGCATTCATGTGTGTTAAATATGTTTTTCTTGGCCAGGCGCAGTGGCTCACGCCT 31047834 31048004 31047990 31047991 31047991 upstr_intron -52 -0.784615384615385 AGGCGTGAGCCACTGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT mutant NA NA NA NA NA 650 115 0.892695302277883 1 0.946347651138942 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 NA NA -0.0998559637920231 0.0124355078071025 0.988164331784144 0.990057879131402 NA -0.0437102279924603 NA FALSE NA 0.028 -0.995 . intron_variant MODIFIER TRPM1 HGNC 7146 ENST00000558445 12/26 1 NA CGG G,A 4.137e-05 15:31047991 TRPM1 HGNC Symbol protein_coding 160212 ENSG00000134160 ENSE00003549251 intron_variant -0.658386 0.03942 0.00058 0.053691 0.518791198571762 0.046875 1.16831980652389e-31 FALSE 2.85922e-05 ENSE00000912795_BRK ENSE00000912795 BRK 15 31340038 31340207 - 54 51 65 A,G; T,T NA NA NA AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCTTAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGCCCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT 31047834 31048004 NA NA NA NA NA NA AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCTTAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGCCCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT AGGCGTGAGCCACCGCGCCTGGCCAAGAAAAACATATTTAACACACATGAATGCTTCTCTTTCAGAGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAGGTCAGTCTACTGTTTTACAATTCTTACCTGTTGGCATCTTTCACAAAATCATTT control 102 24 0.0751039255774449 0.142433105466497 0.108768515521971 NA NA NA NA NA 0.99456491571117 0.981763747857118 0.992551266069907 0.987564492192898 -0.919460990133725 -0.839330642390621 NA NA 0.988164331784144 0.990057879131402 -0.879395816262173 NA NA NA TRUE NA NA NA NA NA TRPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPM1 NA NA NA ENSG00000134160 ENSE00003549251 NA NA NA NA NA NA NA 1.16831980652389e-31 FALSE NA ENSE00000914615_000 ENSE00000914615 000 18 56016718 56016887 + 51 78 41 NA NA NA NA NA CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 NA NA NA NA NA NA CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT natural 90 89 0.959499979859294 0.935511141899616 0.947505560879455 962 2537 0.920213507038561 0.788947885914948 0.854580696476754 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 0 0 0 0 0.947505560879455 0.854580696476754 0 0 0 FALSE FALSE NA NA NA NA NA NEDD4L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEDD4L NA NA NA ENSG00000049759 ENSE00003675956 NA NA NA NA NA NA NA 0.999966646256687 TRUE NA ENSE00000914615_001 ENSE00000914615 001 18 56016718 56016887 + 51 78 41 C T 56016731 728 14 CACACAGATACTTTCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349498 58349499 58349499 upstr_intron -38 -0.725490196078431 CACACAGATACTTTCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 98 30 1 0.8 0.9 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0797864929614388 0.0110521140850524 0.947505560879455 0.854580696476754 NA 0.0454193035232456 NA FALSE NA 0 -0.007 . intron_variant MODIFIER NEDD4L HGNC 7728 ENST00000456173 14/28 1 NA TCC C,T 8.275e-06 18:58349499 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 intron_variant 0.178438 0.18002 0.044 0.062308 0.74275210571138 0.0532412 0.999966646256687 TRUE 1.22249e-05 ENSE00000914615_003 ENSE00000914615 003 18 56016718 56016887 + 51 78 41 T C 56016736 730 19 CACACAGATACTTCCACTCAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349503 58349504 58349504 upstr_intron -33 -0.627450980392157 CACACAGATACTTCCACTCAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 197 10 0.987313398120975 1 0.993656699060488 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0670998910824142 0.211052114085052 0.947505560879455 0.854580696476754 NA 0.139076002583733 NA FALSE NA 0.864 2.864 . intron_variant MODIFIER NEDD4L HGNC 7728 ENST00000456173 14/28 1 NA TTA T,C 8.276e-06 18:58349504 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 intron_variant 0.167846 0.22726 0.51314 0 0.564166458545948 0.0753014 0.999966646256687 TRUE 8.13948e-06 ENSE00000914615_004 ENSE00000914615 004 18 56016718 56016887 + 51 78 41 G C 56016747 731 30 CACACAGATACTTCCACTTAGCATCTACTCTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349514 58349515 58349515 upstr_intron -22 -0.411764705882353 CACACAGATACTTCCACTTAGCATCTACTCTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 71 433 1 0.99982402455512 0.99991201227756 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0797864929614388 0.210876138640172 0.947505560879455 0.854580696476754 NA 0.145331315800805 NA FALSE NA 0 -0.192 . intron_variant MODIFIER NEDD4L HGNC 7728 ENST00000456173 14/28 rs566243713 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGT G,C 8.276e-06 18:58349515 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 intron_variant -0.003744 0.21813 0.12519 0 0.492183971774285 0.0753014 0.999966646256687 TRUE 4.06454e-06 ENSE00000914615_005 ENSE00000914615 005 18 56016718 56016887 + 51 78 41 T C 56016757 732 40 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACACTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349524 58349525 58349525 upstr_intron -12 -0.215686274509804 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACACTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 118 11 1 1 1 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0797864929614388 0.211052114085052 0.947505560879455 0.854580696476754 NA 0.145419303523246 NA FALSE NA 0.044 0.196 . intron_variant MODIFIER NEDD4L HGNC 7728 ENST00000456173 14/28 1 NA ATT T,C 8.277e-06 18:58349525 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 intron_variant 0.687249 0.31097 0.12135 0 0.692619091654859 0.306309 0.999966646256687 TRUE 2.03153e-05 ENSE00000914615_006 ENSE00000914615 006 18 56016718 56016887 + 51 78 41 T G 56016760 733 43 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTGTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349527 58349528 58349528 upstr_intron -9 -0.156862745098039 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTGTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 362 177 0.989680643486908 1 0.994840321743454 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0694671364483467 0.211052114085052 0.947505560879455 0.854580696476754 NA 0.140259625266699 NA FALSE NA 0.006 0.159 . intron_variant MODIFIER NEDD4L HGNC 7728 ENST00000456173 14/28 1 NA TTT T,G 1.655e-05 18:58349528 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 intron_variant 2.036339 0.74656 0.46069 0 0.824579308799049 0.305565 0.999966646256687 TRUE 1.21877e-05 ENSE00000914615_007 ENSE00000914615 007 18 56016718 56016887 + 51 78 41 T C 56016764 734 47 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTCGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349531 58349532 58349532 upstr_intron -5 -0.0784313725490196 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTCGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant 38 40 0.85 0.914810534266075 0.882405267133038 NA NA NA NA NA 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 -0.109499979859294 -0.0207006076335403 NA NA 0.947505560879455 0.854580696476754 -0.0651002937464171 NA NA NA FALSE 0.075 2.271 . splice_region_variant&intron_variant LOW NEDD4L HGNC 7728 ENST00000456173 14/28 1 NA TTG T,C 1.655e-05 18:58349532 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 splice_region_variant 1.828769 0.96722 0.55684 0 0.961647546902739 0.836632 0.999966646256687 TRUE 2.03128e-05 ENSE00000914615_008 ENSE00000914615 008 18 56016718 56016887 + 51 78 41 G T 56016765 735 48 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTTCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349532 58349533 58349533 upstr_intron -4 -0.0588235294117647 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTTCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 78 60 0.992371248674617 1 0.996185624337309 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0721577416360559 0.211052114085052 0.947505560879455 0.854580696476754 NA 0.141604927860554 NA FALSE NA 0.027 -0.243 . splice_region_variant&intron_variant LOW NEDD4L HGNC 7728 ENST00000456173 14/28 1 NA TGC G,T 8.277e-06 18:58349533 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 splice_region_variant 1.332342 0.38996 0.10744 0 0.76339436084761 0.242395 0.999966646256687 TRUE 8.12546e-06 ENSE00000914615_009 ENSE00000914615 009 18 56016718 56016887 + 51 78 41 A T 56016771 736 54 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGATGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349538 58349539 58349539 exon 3 0.0384615384615385 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGATGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 175 10 0.995932340907839 1 0.99796617045392 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.075718833869278 0.211052114085052 0.947505560879455 0.854580696476754 NA 0.143385473977165 NA FALSE NA 1 4.577 . missense_variant&splice_region_variant MODERATE NEDD4L HGNC 7728 ENST00000456173 15/29 1 tolerated(0.36) benign(0.007) NA AAG A,T 8.276e-06 18:58349539 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 missense_variant 4.141989 0.98047 0.93364 0.706548 0.980990468341042 0 0.999966646256687 TRUE 8.12381e-06 ENSE00000914615_010 ENSE00000914615 010 18 56016718 56016887 + 51 78 41 A G 56016792 737 75 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCGGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349559 58349560 58349560 exon 24 0.307692307692308 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCGGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 197 544 1 0.99147402282502 0.99573701141251 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0797864929614388 0.202526136910072 0.947505560879455 0.854580696476754 NA 0.141156314935755 NA FALSE NA 0.4 -0.143 . synonymous_variant LOW NEDD4L HGNC 7728 ENST00000456173 15/29 1 NA CAG A,G 2.483e-05 18:58349560 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 synonymous_variant -0.097044 0.96617 0.47404 0.706548 0.624991082873204 0 0.999966646256687 TRUE 2.43698e-05 ENSE00000914615_012 ENSE00000914615 012 18 56016718 56016887 + 51 78 41 T G 56016800 739 83 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATAGGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349567 58349568 58349568 exon 32 0.41025641025641 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATAGGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 160 595 0.936637786061496 0.996347851068846 0.966492818565171 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0164242790229352 0.207399965153898 0.947505560879455 0.854580696476754 NA 0.111912122088417 NA FALSE NA 1 7.644 . missense_variant MODERATE NEDD4L HGNC 7728 ENST00000456173 15/29 rs369952868 1 tolerated(0.12) benign(0.004) NA G:0 G:0.0001 ATG T,G 8.276e-06 18:58349568 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 missense_variant 2.256096 0.99035 0.98726 0.706548 0.958681889476415 0 0.999966646256687 TRUE 4.06141e-06 ENSE00000914615_013 ENSE00000914615 013 18 56016718 56016887 + 51 78 41 C A 56016802 740 85 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGAGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349569 58349570 58349570 exon 34 0.435897435897436 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGAGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant 42 22 0.896649349821983 0.800186733960861 0.848418041891422 NA NA NA NA NA 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 -0.0628506300373107 -0.135324407938755 NA NA 0.947505560879455 0.854580696476754 -0.0990875189880327 NA NA NA FALSE 1 6.365 . synonymous_variant LOW NEDD4L HGNC 7728 ENST00000456173 15/29 1 NA GCG C,A 8.276e-06 18:58349570 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 synonymous_variant 1.953746 0.97887 0.84551 0.706548 0.520727792419901 0 0.999966646256687 TRUE 8.12328e-06 ENSE00000914615_014 ENSE00000914615 014 18 56016718 56016887 + 51 78 41 C A 56016822 741 105 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAAACCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349589 58349590 58349590 exon -25 0.692307692307692 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAAACCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 144 21 1 1 1 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0797864929614388 0.211052114085052 0.947505560879455 0.854580696476754 NA 0.145419303523246 NA FALSE NA 0.989 0.23 . missense_variant MODERATE NEDD4L HGNC 7728 ENST00000456173 15/29 1 tolerated(0.15) benign(0.001) NA ACC C,A 6.621e-05 18:58349590 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 missense_variant 2.414375 0.96579 0.81535 0.706548 0.976840497247485 0 0.999966646256687 TRUE 6.49852e-05 ENSE00000914615_017 ENSE00000914615 017 18 56016718 56016887 + 51 78 41 C T 56016837 744 120 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGTCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349604 58349605 58349605 exon -10 0.884615384615385 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGTCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 1975 36 0.999247437688438 0.924570693624403 0.961909065656421 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0790339306498773 0.135622807709455 0.947505560879455 0.854580696476754 NA 0.107328369179666 NA FALSE NA 0.967 0.12 . synonymous_variant LOW NEDD4L HGNC 7728 ENST00000456173 15/29 rs371868483 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0013 T:0 GCC C,T 8.275e-05 18:58349605 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 synonymous_variant 1.681985 0.95954 0.71181 0.706548 0.70385867593702 0 0.999966646256687 TRUE 5.28073e-05 ENSE00000914615_018 ENSE00000914615 018 18 56016718 56016887 + 51 78 41 C T 56016854 745 137 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTATACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349621 58349622 58349622 downstr_intron 8 1.2 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTATACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant 69 18 0.857989576319035 0.954427911898515 0.906208744108775 327 160 0.992894548490791 1 0.996447274245396 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 -0.101510403540259 0.0189167699988992 0.0726810414522301 0.211052114085052 0.947505560879455 0.854580696476754 -0.04129681677068 0.141866577768641 0.183163394539321 FALSE FALSE 0 -0.296 . splice_region_variant&intron_variant LOW NEDD4L HGNC 7728 ENST00000456173 15/28 1 NA ACA C,T 1.655e-05 18:58349622 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 splice_region_variant 1.71728 0.16328 0.01637 0.062308 0.730831494107072 0.203133 0.999966646256687 TRUE 1.62547e-05 ENSE00000914615_020 ENSE00000914615 020 18 56016718 56016887 + 51 78 41 A T 56016855 747 138 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACTCTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349622 58349623 58349623 downstr_intron 9 1.225 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACTCTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 332 877 0.999378566214355 1 0.999689283107178 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0791650591757939 0.211052114085052 0.947505560879455 0.854580696476754 NA 0.145108586630423 NA FALSE NA 0 -0.995 NA NA NA NEDD4L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:58349623 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 intron_variant 2.143496 0.17107 0.0236 0.062308 0.845171657565131 0.203133 0.999966646256687 TRUE 4.06369e-06 ENSE00000914615_021 ENSE00000914615 021 18 56016718 56016887 + 51 78 41 G A 56016858 748 141 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTAGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 58349625 58349626 58349626 downstr_intron 12 1.3 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTAGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 796 880 0.939393314315936 0.99537174148945 0.967382527902693 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0191798072773746 0.206423855574503 0.947505560879455 0.854580696476754 NA 0.112801831425939 NA FALSE NA 0 0.207 . intron_variant MODIFIER NEDD4L HGNC 7728 ENST00000456173 15/28 1 NA TGG G,A 8.274e-06 18:58349626 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 intron_variant 2.236618 0.18315 0.13076 0.062308 0.829210050349098 0.203133 0.999966646256687 TRUE 4.06428e-06 ENSE00000914615_022 ENSE00000914615 022 18 56016718 56016887 + 51 78 41 G C 56016869 749 152 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGCAATGGTCTGAATATGTGT 58349485 58349655 58349636 58349637 58349637 downstr_intron 23 1.575 CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGCAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT mutant NA NA NA NA NA 279 494 1 0.996382765780865 0.998191382890433 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 NA NA 0.0797864929614388 0.207434879865917 0.947505560879455 0.854580696476754 NA 0.143610686413678 NA FALSE NA 0 -0.021 . intron_variant MODIFIER NEDD4L HGNC 7728 ENST00000456173 15/28 rs558348369 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GGA G,C 1.655e-05 18:58349637 NEDD4L HGNC Symbol protein_coding 357173 ENSG00000049759 ENSE00003675956 intron_variant 1.383535 0.23691 0.08488 0.062308 0.660995885743204 0.187379 0.999966646256687 TRUE 1.22016e-05 ENSE00000914615_BRK ENSE00000914615 BRK 18 56016718 56016887 + 51 78 41 A,G; T,T NA NA NA CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCTTGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTCCGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT 58349485 58349655 NA NA NA NA NA NA CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCTTGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTCCGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT CACACAGATACTTCCACTTAGCATCTACTGTCTTTTACATTTTTCTTGCAGGAAGATCCACGTTTGAAATTTCCAGTACATATGCGGTCAAAGACATCTTTAAACCCCAATGACCTTGGCCCCCTTCCTGTGAGTACACTGGAGACACATGGAATGGTCTGAATATGTGT control 93 144 0 0 0 NA NA NA NA NA 0.959499979859294 0.935511141899616 0.920213507038561 0.788947885914948 -0.959499979859294 -0.935511141899616 NA NA 0.947505560879455 0.854580696476754 -0.947505560879455 NA NA NA TRUE NA NA NA NA NA NEDD4L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEDD4L NA NA NA ENSG00000049759 ENSE00003675956 NA NA NA NA NA NA NA 0.999966646256687 TRUE NA ENSE00000914923_000 ENSE00000914923 000 18 61459562 61459731 + 65 51 54 NA NA NA NA NA CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 NA NA NA NA NA NA CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT natural 130 165 0.85 0.836580902674319 0.84329045133716 1049 372 0.866136485286886 0.880904179737617 0.873520332512251 0.85 0.836580902674319 0.866136485286886 0.880904179737617 0 0 0 0 0.84329045133716 0.873520332512251 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SERPINB7 NA NA NA ENSG00000166396 ENSE00000914923 NA NA NA NA NA NA NA 7.67027798018844e-05 FALSE NA ENSE00000914923_006 ENSE00000914923 006 18 61459562 61459731 + 65 51 54 G C 61459599 857 38 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATCATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 63792364 63792365 63792365 upstr_intron -28 -0.415384615384615 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATCATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT mutant 32 37 0.85 0.85 0.85 142 611 0.926120933822473 0.85148359271053 0.888802263266501 0.85 0.836580902674319 0.866136485286886 0.880904179737617 -1.11022302462516e-16 0.0134190973256807 0.0599844485355867 -0.0294205870270868 0.84329045133716 0.873520332512251 0.00670954866284029 0.0152819307542499 0.00857238209140965 FALSE FALSE 0 0.001 NA NA NA SERPINB7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:63792365 SERPINB7 HGNC Symbol protein_coding 52441 ENSG00000166396 ENSE00000914923 intron_variant -0.196073 0.16463 0.02593 0.053691 0.613500873472205 0.0846383 7.67027798018844e-05 FALSE 0.000903015 ENSE00000914923_014 ENSE00000914923 014 18 61459562 61459731 + 65 51 54 A G 61459639 865 78 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTGACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 63792404 63792405 63792405 exon 13 0.254901960784314 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTGACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT mutant NA NA NA NA NA 102 286 1 0.999866823564528 0.999933411782264 0.85 0.836580902674319 0.866136485286886 0.880904179737617 NA NA 0.133863514713114 0.118962643826912 0.84329045133716 0.873520332512251 NA 0.126413079270013 NA FALSE NA 0 0.326 rs74653657 missense_variant MODERATE SERPINB7 HGNC 13902 ENST00000431370 3/5 rs74653657 1 tolerated(0.94) benign(0.342) G:0.0016 G:0 G:0 NA G:0.0069 G:0 G:0.001 TAA A,G 0.0005107 18:63792405 SERPINB7 HGNC Symbol protein_coding 52441 ENSG00000166396 ENSE00000914923 missense_variant 0.485532 0.17604 0.04549 0.487112 0.447192017428175 0 7.67027798018844e-05 FALSE 0.000556739 ENSE00000914923_017 ENSE00000914923 017 18 61459562 61459731 + 65 51 54 T A 61459654 868 93 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGAAATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 63792419 63792420 63792420 exon -24 0.549019607843137 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGAAATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT mutant NA NA NA NA NA 51 14 0.887914840391315 0.8 0.843957420195657 0.85 0.836580902674319 0.866136485286886 0.880904179737617 NA NA 0.0217783551044289 -0.0809041797376168 0.84329045133716 0.873520332512251 NA -0.0295629123165939 NA FALSE NA 0.001 0.033 . missense_variant MODERATE SERPINB7 HGNC 13902 ENST00000431370 3/5 1 tolerated(0.3) benign(0.022) NA ATA T,A 8.237e-06 18:63792420 SERPINB7 HGNC Symbol protein_coding 52441 ENSG00000166396 ENSE00000914923 missense_variant -0.509796 0.17563 0.0321 0.487112 0.275056367088611 0 7.67027798018844e-05 FALSE 8.13187e-06 ENSE00000914923_018 ENSE00000914923 018 18 61459562 61459731 + 65 51 54 A G 61459655 869 94 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATGTGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 63792420 63792421 63792421 exon -23 0.568627450980392 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATGTGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT mutant NA NA NA NA NA 434 96 0.988663274323081 1 0.99433163716154 0.85 0.836580902674319 0.866136485286886 0.880904179737617 NA NA 0.122526789036195 0.119095820262383 0.84329045133716 0.873520332512251 NA 0.120811304649289 NA FALSE NA 0 -0.783 . missense_variant MODERATE SERPINB7 HGNC 13902 ENST00000431370 3/5 1 tolerated(0.18) benign(0.002) NA TAT A,G 8.237e-06 18:63792421 SERPINB7 HGNC Symbol protein_coding 52441 ENSG00000166396 ENSE00000914923 missense_variant -0.92257 0.1024 0.01461 0.487112 0.492857818577467 0 7.67027798018844e-05 FALSE 4.06478e-06 ENSE00000914923_019 ENSE00000914923 019 18 61459562 61459731 + 65 51 54 T C 61459656 870 95 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATACGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 63792421 63792422 63792422 exon -22 0.588235294117647 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATACGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT mutant NA NA NA NA NA 38 638 1 0.984054347816303 0.992027173908151 0.85 0.836580902674319 0.866136485286886 0.880904179737617 NA NA 0.133863514713114 0.103150168078686 0.84329045133716 0.873520332512251 NA 0.1185068413959 NA FALSE NA 0 -0.579 . synonymous_variant LOW SERPINB7 HGNC 13902 ENST00000431370 3/5 1 NA ATG T,C 7.413e-05 18:63792422 SERPINB7 HGNC Symbol protein_coding 52441 ENSG00000166396 ENSE00000914923 synonymous_variant -1.040269 0.11296 0.00578 0.487112 0.216957838657865 0 7.67027798018844e-05 FALSE 6.90995e-05 ENSE00000914923_023 ENSE00000914923 023 18 61459562 61459731 + 65 51 54 A G 61459680 874 119 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTGAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 63792445 63792446 63792446 downstr_intron 3 1.05660377358491 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTGAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT mutant 34 16 0 0 0 NA NA NA NA NA 0.85 0.836580902674319 0.866136485286886 0.880904179737617 -0.85 -0.836580902674319 NA NA 0.84329045133716 0.873520332512251 -0.84329045133716 NA NA NA TRUE 1 3.759 . splice_region_variant&intron_variant LOW SERPINB7 HGNC 13902 ENST00000431370 3/4 1 NA TAA A,G 1.647e-05 18:63792446 SERPINB7 HGNC Symbol protein_coding 52441 ENSG00000166396 ENSE00000914923 splice_region_variant 1.415348 0.97998 0.95215 0.053691 0.895303483685665 0.93437 7.67027798018844e-05 FALSE 1.22156e-05 ENSE00000914923_026 ENSE00000914923 026 18 61459562 61459731 + 65 51 54 G A 61459708 877 147 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAAAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 63792473 63792474 63792474 downstr_intron 31 1.58490566037736 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAAAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT mutant 99 71 0.79850796084426 0.85 0.82425398042213 NA NA NA NA NA 0.85 0.836580902674319 0.866136485286886 0.880904179737617 -0.0514920391557403 0.0134190973256807 NA NA 0.84329045133716 0.873520332512251 -0.0190364709150298 NA NA NA FALSE 0.001 0.591 . intron_variant MODIFIER SERPINB7 HGNC 13902 ENST00000431370 3/4 rs374269571 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0014 A:0 AGA G,A 0.0001071 18:63792474 SERPINB7 HGNC Symbol protein_coding 52441 ENSG00000166396 ENSE00000914923 intron_variant 0.131617 0.15714 0.00821 0.053691 0.675076364341282 0.0455047 7.67027798018844e-05 FALSE 9.5404e-05 ENSE00000914923_028 ENSE00000914923 028 18 61459562 61459731 + 65 51 54 G A 61459714 879 153 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTAAGCCAGGTGCAGGGGCT 63792327 63792497 63792479 63792480 63792480 downstr_intron 37 1.69811320754717 CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTAAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT mutant 46 43 0.85 0.85 0.85 147 105 0.92694017151148 0.903063180912664 0.915001676212072 0.85 0.836580902674319 0.866136485286886 0.880904179737617 0 0.0134190973256807 0.0608036862245938 0.022159001175047 0.84329045133716 0.873520332512251 0.00670954866284035 0.0414813436998204 0.03477179503698 FALSE FALSE 0.037 0.124 . intron_variant MODIFIER SERPINB7 HGNC 13902 ENST00000431370 3/4 1 NA TGA G,A 8.237e-06 18:63792480 SERPINB7 HGNC Symbol protein_coding 52441 ENSG00000166396 ENSE00000914923 intron_variant 0.17964 0.18027 0.01669 0.053691 0.753355423864575 0.0808833 7.67027798018844e-05 FALSE 8.35317e-06 ENSE00000914923_BRK ENSE00000914923 BRK 18 61459562 61459731 + 65 51 54 A,G; T,T NA NA NA CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACTTTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGCCAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT 63792327 63792497 NA NA NA NA NA NA CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACTTTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGCCAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT CCTCTTGCAAACTGTTCTCGTAACCTCTGATTCTAATGATTGCTTTCCTTGTGCCCTGTTTACAGTTGCTTCATGTTAACACTGCCTCAGGATATGGAAACTCTTCTAATAGTCAGGTAAAGACAATATGTTCTTTTAGAAAAAGAGAAGGTGAGCCAGGTGCAGGGGCT control NA NA NA NA NA 565 57 0 0.00566845297593866 0.00283422648796933 0.85 0.836580902674319 0.866136485286886 0.880904179737617 NA NA -0.866136485286886 -0.875235726761678 0.84329045133716 0.873520332512251 NA -0.870686106024282 NA TRUE NA NA NA NA NA NA SERPINB7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SERPINB7 NA NA NA ENSG00000166396 ENSE00000914923 NA NA NA NA NA NA NA 7.67027798018844e-05 FALSE NA ENSE00000915557_000 ENSE00000915557 000 12 21679770 21679939 + 50 81 39 NA NA NA NA NA AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 NA NA NA NA NA NA AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC natural 1006 1281 0.847885737091953 0.850004403733634 0.848945070412793 5666 4367 0.810683748262788 0.748520372815557 0.779602060539173 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0 0 0 0 0.848945070412793 0.779602060539173 0 0 0 FALSE FALSE NA NA NA NA NA C12orf39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPX NA NA NA ENSG00000134548 ENSE00000915557 NA NA NA NA NA NA NA NA NA NA ENSE00000915557_001 ENSE00000915557 001 12 21679770 21679939 + 50 81 39 G A 21679781 751 12 GCGCATTGTTTTAAAATTTTTTATTTTGCATTTGATTACCTGCGGAGCGCAGCTGGAGTTTCCCAGGAAAACAAACACCAGGAAAAGAGCCAAGGTTGTTGCTGCCAGACTTCTGAGTCCCTATATGAAGCGATCAACCAGAAAGGGTCATTTCTGTGTCAATAGGATCT 21526835 21527005 21526846 21526847 21526847 upstr_intron -39 -0.76 AGATCCTATTGACACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 94 84 0.85 0.85 0.85 1981 825 0.804438778773333 0.806985827551752 0.805712303162543 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.00211426290804739 -4.40373363419511e-06 -0.00624496948945452 0.058465454736195 0.848945070412793 0.779602060539173 0.0010549295872066 0.0261102426233703 0.0250553130361637 FALSE FALSE 0 0.827 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 rs376144394 1 NA A:0 A:0.0002 GGC G,A 9.06e-05 12:21526847 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 intron_variant 0.365132 0.25435 0.02683 0.095506 0.711457717949693 0.181587 NA NA 9.79056e-05 ENSE00000915557_002 ENSE00000915557 002 12 21679770 21679939 + 50 81 39 A G 21679789 752 20 AGATCCTATTGGCACAGAAGTGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526854 21526855 21526855 upstr_intron -31 -0.6 AGATCCTATTGGCACAGAAGTGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 136 215 0.845959115414036 0.868264705991294 0.857111910702665 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 -0.00192662167791624 0.0182603022576597 NA NA 0.848945070412793 0.779602060539173 0.00816684028987175 NA NA NA FALSE 0.006 1.966 rs181932814 upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 rs181932814 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAT A,G 8.236e-06 12:21526855 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 intron_variant 0.671706 0.14395 0.08172 0.095506 0.716774146283993 0.122344 NA NA 4.06676e-06 ENSE00000915557_004 ENSE00000915557 004 12 21679770 21679939 + 50 81 39 C A 21679808 754 39 GCGCATTGTTTTAAAATTTTTTATTTTGCATTTGATTACCTGCGGAGCGCAGCTGGAGTTTCCCAGGAAAACAAACACCAGGAAAAGAGCCAAGGTTGTTGCTGCCAGACTTCTGAGTCCCTATATGAAGCTATCAACCAGAAAGGGTCATTTCTGTGCCAATAGGATCT 21526835 21527005 21526873 21526874 21526874 upstr_intron -12 -0.22 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATAGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 21 40 0 0 0 875 214 0.0357381541965533 0.0981185163446533 0.0669283352706033 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 -0.847885737091953 -0.850004403733634 -0.774945594066235 -0.650401856470904 0.848945070412793 0.779602060539173 -0.848945070412793 -0.712673725268569 0.136271345144224 TRUE TRUE 0 -1.339 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA TCG C,A 8.236e-06 12:21526874 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 intron_variant 0.072819 0.10667 0.03932 0.11394 0.35668647678611 0.250285 NA NA 4.06408e-06 ENSE00000915557_005 ENSE00000915557 005 12 21679770 21679939 + 50 81 39 T C 21679817 755 48 GCGCATTGTTTTAAAATTTTTTATTTTGCATTTGATTACCTGCGGAGCGCAGCTGGAGTTTCCCAGGAAAACAAACACCAGGAAAAGAGCCAAGGTTGTTGCTGCCAGACTTCTGAGTCCCTGTATGAAGCGATCAACCAGAAAGGGTCATTTCTGTGCCAATAGGATCT 21526835 21527005 21526882 21526883 21526883 upstr_intron -3 -0.04 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATACAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 11 41 0.981107857452601 0.933769281435782 0.957438569444192 160 744 0.998781930822783 0.998935656694664 0.998858793758724 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.133222120360649 0.0837648777021477 0.188098182559995 0.250415283879107 0.848945070412793 0.779602060539173 0.108493499031398 0.219256733219551 0.110763234188153 FALSE FALSE 0 -2.332 rs112067025 upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 rs112067025 1 NA C:0.0009 C:0 ATA T,C 9.06e-05 12:21526883 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 splice_region_variant -0.535089 0.08716 0.00253 0.11394 0.289590308111376 0.258783 NA NA 8.12156e-05 ENSE00000915557_006 ENSE00000915557 006 12 21679770 21679939 + 50 81 39 A T 21679822 756 53 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGTCTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526887 21526888 21526888 exon 3 0.037037037037037 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGTCTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 196 281 0.85 0.85 0.85 1158 457 0.699404423146506 0.81631970875737 0.757862065951938 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.00211426290804739 -4.40373363419511e-06 -0.111279325116282 0.0677993359418129 0.848945070412793 0.779602060539173 0.0010549295872066 -0.0217399945872348 0.0227949241744414 FALSE FALSE 0.187 0.609 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA GAC A,T 8.236e-06 12:21526888 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 splice_region_variant -0.009023 0.19902 0.19084 0.446893 0.475261164170623 0 NA NA 8.1215e-06 ENSE00000915557_007 ENSE00000915557 007 12 21679770 21679939 + 50 81 39 G C 21679835 757 66 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGCCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526900 21526901 21526901 exon 16 0.197530864197531 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGCCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant NA NA NA NA NA 559 343 0.881671215245122 0.939097583083545 0.910384399164334 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 NA NA 0.0709874669823343 0.190577210267988 0.848945070412793 0.779602060539173 NA 0.130782338625161 NA FALSE NA 0.026 0.206 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA GGC G,C 8.236e-06 12:21526901 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 missense_variant 0.814723 0.16713 0.06761 0.446893 0.913423761667872 0 NA NA 4.06075e-06 ENSE00000915557_008 ENSE00000915557 008 12 21679770 21679939 + 50 81 39 A G 21679837 758 68 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCGGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526902 21526903 21526903 exon 18 0.222222222222222 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCGGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 106 277 0.919012286533054 0.864560024280396 0.891786155406725 1096 363 0.872332216432896 0.837825423473886 0.855078819953391 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.0711265494411015 0.0145556205467621 0.0616484681701076 0.0893050506583292 0.848945070412793 0.779602060539173 0.0428410849939318 0.0754767594142184 0.0326356744202866 FALSE FALSE 0 -0.765 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA CAG A,G 8.236e-06 12:21526903 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 synonymous_variant 0.077234 0.1166 0.00472 0.446893 0.424574668706053 0 NA NA 4.06062e-06 ENSE00000915557_009 ENSE00000915557 009 12 21679770 21679939 + 50 81 39 C A 21679845 759 76 GCGCATTGTTTTAAAATTTTTTATTTTGCATTTGATTACCTGCGGAGCGCAGCTGGAGTTTCCCAGGAAAACAAACACCAGGAAAAGAGCCAAGTTTGTTGCTGCCAGACTTCTGAGTCCCTATATGAAGCGATCAACCAGAAAGGGTCATTTCTGTGCCAATAGGATCT 21526835 21527005 21526910 21526911 21526911 exon 26 0.320987654320988 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAAACTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 129 173 0.85 0.85 0.85 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.00211426290804739 -4.40373363419511e-06 NA NA 0.848945070412793 0.779602060539173 0.0010549295872066 NA NA NA FALSE 0.002 1.035 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA ACC C,A 8.236e-06 12:21526911 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 missense_variant 2.577943 0.1719 0.12568 0.446893 0.836463530773143 0 NA NA 4.06068e-06 ENSE00000915557_010 ENSE00000915557 010 12 21679770 21679939 + 50 81 39 T C 21679857 760 88 GCGCATTGTTTTAAAATTTTTTATTTTGCATTTGATTACCTGCGGAGCGCAGCTGGAGTTTCCCAGGAAAACAAACACCAGGGAAAGAGCCAAGGTTGTTGCTGCCAGACTTCTGAGTCCCTATATGAAGCGATCAACCAGAAAGGGTCATTTCTGTGCCAATAGGATCT 21526835 21527005 21526922 21526923 21526923 exon 38 0.469135802469136 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTCCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant NA NA NA NA NA 2586 636 0.0195447293220811 0.0356090383902146 0.0275768838561478 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 NA NA -0.791139018940707 -0.712911334425343 0.848945070412793 0.779602060539173 NA -0.752025176683025 NA TRUE NA 0.999 1.69 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 rs534546357 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTC T,C 8.236e-06 12:21526923 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 missense_variant 4.436562 0.94689 0.62284 0.446893 0.997667768979551 0 NA NA 4.06068e-06 ENSE00000915557_011 ENSE00000915557 011 12 21679770 21679939 + 50 81 39 G T 21679862 761 93 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGTTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526927 21526928 21526928 exon -39 0.530864197530864 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGTTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 205 236 0.791730700397537 0.85 0.820865350198768 362 449 0.626657660758321 0.809869959919871 0.718263810339096 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 -0.0561550366944158 -4.40373363419511e-06 -0.184026087504467 0.061349587104314 0.848945070412793 0.779602060539173 -0.028079720214025 -0.0613382502000767 0.0332585299860517 FALSE FALSE 0.585 0.277 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA GGT G,T 8.236e-06 12:21526928 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 missense_variant 0.828055 0.9437 0.36175 0.446893 0.923555272594082 0 NA NA 8.12156e-06 ENSE00000915557_012 ENSE00000915557 012 12 21679770 21679939 + 50 81 39 G A 21679864 762 95 GCGCATTGTTTTAAAATTTTTTATTTTGCATTTGATTACCTGCGGAGCGCAGCTGGAGTTTCCCAGGAAAACAAATACCAGGAAAAGAGCCAAGGTTGTTGCTGCCAGACTTCTGAGTCCCTATATGAAGCGATCAACCAGAAAGGGTCATTTCTGTGCCAATAGGATCT 21526835 21527005 21526929 21526930 21526930 exon -37 0.555555555555556 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTATTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 254 387 0.821426982009276 0.844266474147991 0.832846728078633 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 -0.0264587550826767 -0.00573792958564323 NA NA 0.848945070412793 0.779602060539173 -0.01609834233416 NA NA NA FALSE 0.052 0.213 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA TGT G,A 8.236e-06 12:21526930 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 synonymous_variant 0.629758 0.84801 0.0834 0.446893 0.48457739224395 0 NA NA 4.06075e-06 ENSE00000915557_013 ENSE00000915557 013 12 21679770 21679939 + 50 81 39 C T 21679873 763 104 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTTCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526938 21526939 21526939 exon -28 0.666666666666667 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTTCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant NA NA NA NA NA 727 598 0.00457938627421427 0.0114686737149287 0.00802402999457147 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 NA NA -0.806104361988574 -0.737051699100629 0.848945070412793 0.779602060539173 NA -0.771578030544601 NA TRUE NA 0.004 0.302 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA TCC C,T 8.236e-06 12:21526939 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 synonymous_variant 1.232801 0.17949 0.04643 0.446893 0.661293036269916 0 NA NA 4.06095e-06 ENSE00000915557_014 ENSE00000915557 014 12 21679770 21679939 + 50 81 39 C A 21679884 764 115 GCGCATTGTTTTAAAATTTTTTATTTTGCATTTGATTACCTGCGGAGCGCAGCTGTAGTTTCCCAGGAAAACAAACACCAGGAAAAGAGCCAAGGTTGTTGCTGCCAGACTTCTGAGTCCCTATATGAAGCGATCAACCAGAAAGGGTCATTTCTGTGCCAATAGGATCT 21526835 21527005 21526949 21526950 21526950 exon -17 0.802469135802469 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTACAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 37 81 0.85 0.85 0.85 608 794 0.813521393420554 0.81332014943518 0.813420771427867 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.00211426290804739 -4.40373363419511e-06 0.00283764515776641 0.0647997766196229 0.848945070412793 0.779602060539173 0.0010549295872066 0.0338187108886946 0.032763781301488 FALSE FALSE 0.473 1.59 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA TCC C,A 8.236e-06 12:21526950 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 missense_variant 3.902378 0.21124 0.16924 0.446893 0.969554777878282 0 NA NA 1.21832e-05 ENSE00000915557_015 ENSE00000915557 015 12 21679770 21679939 + 50 81 39 A G 21679886 765 117 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCGGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526951 21526952 21526952 exon -15 0.827160493827161 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCGGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 844 1140 0.848700031099099 0.85 0.849350015549549 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.000814294007146499 -4.40373363430613e-06 NA NA 0.848945070412793 0.779602060539173 0.000404945136756096 NA NA NA FALSE 0.023 0.51 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA CAG A,G 1.647e-05 12:21526952 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 missense_variant -0.621687 0.1573 0.02708 0.446893 0.787582121883242 0 NA NA 1.62443e-05 ENSE00000915557_017 ENSE00000915557 017 12 21679770 21679939 + 50 81 39 A C 21679908 767 139 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCACATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526973 21526974 21526974 downstr_intron 8 1.21052631578947 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCACATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 45 86 0.85 0.85 0.85 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.00211426290804739 -4.40373363419511e-06 NA NA 0.848945070412793 0.779602060539173 0.0010549295872066 NA NA NA FALSE 0 -1.039 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 rs370863055 1 NA C:0 C:0.0002 AAA A,C 1.647e-05 12:21526974 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 splice_region_variant -0.387715 0.11746 0.01977 0.11394 0.536373632822299 0.132253 NA NA 8.12869e-06 ENSE00000915557_018 ENSE00000915557 018 12 21679770 21679939 + 50 81 39 G A 21679911 768 142 GCGCATTGTTTTAAAATTTTTTATTTTGTATTTGATTACCTGCGGAGCGCAGCTGGAGTTTCCCAGGAAAACAAACACCAGGAAAAGAGCCAAGGTTGTTGCTGCCAGACTTCTGAGTCCCTATATGAAGCGATCAACCAGAAAGGGTCATTTCTGTGCCAATAGGATCT 21526835 21527005 21526976 21526977 21526977 downstr_intron 11 1.28947368421053 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATACAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 280 464 0.85 0.826209301551147 0.838104650775574 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.00211426290804739 -0.0237951021824867 NA NA 0.848945070412793 0.779602060539173 -0.0108404196372197 NA NA NA FALSE 0.043 0.954 rs117584874 upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 rs117584874 1 A:0.0070 A:0 A:0.013 NA A:0 A:0.0219 A:0.0041 A:0.0034 A:0.0213 TGC G,A 0.014 12:21526977 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 intron_variant 0.454736 0.19914 0.08173 0.11394 0.711611120331685 0.0702879 NA NA 0.014269 ENSE00000915557_019 ENSE00000915557 019 12 21679770 21679939 + 50 81 39 A G 21679915 769 146 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAGATAAAAAATTTTAAAACAATGCGC 21526835 21527005 21526980 21526981 21526981 downstr_intron 15 1.39473684210526 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAGATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 45 104 0.85 0.85 0.85 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.00211426290804739 -4.40373363430613e-06 NA NA 0.848945070412793 0.779602060539173 0.00105492958720654 NA NA NA FALSE 0.006 -0.281 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA AAA A,G 8.237e-06 12:21526981 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 intron_variant 0.019726 0.15911 0.00583 0.11394 0.652652874482812 0.0693307 NA NA 4.0654e-06 ENSE00000915557_020 ENSE00000915557 020 12 21679770 21679939 + 50 81 39 A T 21679918 770 149 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATTAAAAATTTTAAAACAATGCGC 21526835 21527005 21526983 21526984 21526984 downstr_intron 18 1.47368421052632 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATTAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant NA NA NA NA NA 511 1921 0.614290643519218 0.804665498263817 0.709478070891517 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 NA NA -0.19639310474357 0.05614512544826 0.848945070412793 0.779602060539173 NA -0.0701239896476551 NA FALSE NA 0.065 0.907 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:21526984 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 intron_variant -0.278148 0.14943 0.03694 0.11394 0.499456571802049 0.0710112 NA NA 4.06838e-06 ENSE00000915557_021 ENSE00000915557 021 12 21679770 21679939 + 50 81 39 A G 21679918 771 149 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATGAAAAATTTTAAAACAATGCGC 21526835 21527005 21526983 21526984 21526984 downstr_intron 18 1.47368421052632 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATGAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 24 59 0.85 0.85 0.85 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 0.00211426290804739 -4.40373363419511e-06 NA NA 0.848945070412793 0.779602060539173 0.0010549295872066 NA NA NA FALSE 0.065 0.907 NA NA NA C12orf39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPX NA NA NA ENSG00000134548 ENSE00000915557 intron_variant -0.097363 0.15507 0.02848 0.11394 0.466994412205803 0.0710112 NA NA 4.06838e-06 ENSE00000915557_022 ENSE00000915557 022 12 21679770 21679939 + 50 81 39 A C 21679929 772 160 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTACAACAATGCGC 21526835 21527005 21526994 21526995 21526995 downstr_intron 29 1.76315789473684 AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTACAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC mutant 106 380 0.84481162423071 0.85 0.847405812115355 NA NA NA NA NA 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 -0.00307411286124293 -4.40373363419511e-06 NA NA 0.848945070412793 0.779602060539173 -0.00153925829743856 NA NA NA FALSE 0 -0.553 . upstream_gene_variant MODIFIER C12orf39 HGNC 28139 ENST00000544637 1 NA AAA A,C 8.237e-06 12:21526995 SPX HGNC Symbol protein_coding 11070 ENSG00000134548 ENSE00000915557 intron_variant -0.62091 0.09954 0.01083 0.11394 0.229840781215842 0.127594 NA NA NA ENSE00000915557_BRK ENSE00000915557 BRK 12 21679770 21679939 + 50 81 39 A,G; T,T NA NA NA AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATTTGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGCCAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC 21526835 21527005 NA NA NA NA NA NA AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATTTGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGCCAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC AGATCCTATTGGCACAGAAATGACCCTTTCTGGTTGATCGCTTCATATAGGGACTCAGAAGTCTGGCAGCAACAACCTTGGCTCTTTTCCTGGTGTTTGTTTTCCTGGGAAACTCCAGCTGCGCTCCGCAGGTAATCAAATGCAAAATAAAAAATTTTAAAACAATGCGC control NA NA NA NA NA 747 556 0 0 0 0.847885737091953 0.850004403733634 0.810683748262788 0.748520372815557 NA NA -0.810683748262788 -0.748520372815557 0.848945070412793 0.779602060539173 NA -0.779602060539173 NA TRUE NA NA NA NA NA NA C12orf39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPX NA NA NA ENSG00000134548 ENSE00000915557 NA NA NA NA NA NA NA NA NA NA ENSE00000916830_000 ENSE00000916830 000 1 38172603 38172772 + 47 87 36 NA NA NA NA NA GGCCCTAAGGGCCATGGCCAGTTTAACCCACTCCCCTTTCTATTCAGAGCCTGCGATTATTGGCCAGTGACTTGCAGAGGCACAGTATTGCCCAGCTGGATCCAGAGGCCTTGGGAAACATTAAGAAGCTCTCCGTAAGTCTCATATTCATCTCCACACATAGGATGCCT 37706930 37707100 NA NA NA NA NA NA GGCCCTAAGGGCCATGGCCAGTTTAACCCACTCCCCTTTCTATTCAGAGCCTGCGATTATTGGCCAGTGACTTGCAGAGGCACAGTATTGCCCAGCTGGATCCAGAGGCCTTGGGAAACATTAAGAAGCTCTCCGTAAGTCTCATATTCATCTCCACACATAGGATGCCT GGCCCTAAGGGCCATGGCCAGTTTAACCCACTCCCCTTTCTATTCAGAGCCTGCGATTATTGGCCAGTGACTTGCAGAGGCACAGTATTGCCCAGCTGGATCCAGAGGCCTTGGGAAACATTAAGAAGCTCTCCGTAAGTCTCATATTCATCTCCACACATAGGATGCCT natural 22 52 0.85 0.905169751401349 0.877584875700674 111 550 0.95 0.959465180739601 0.954732590369801 0.85 0.905169751401349 0.95 0.959465180739601 0 0 0 0 0.877584875700674 0.954732590369801 0 0 0 FALSE FALSE NA NA NA NA NA CDCA8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDCA8 NA NA NA ENSG00000134690 ENSE00000916830 NA NA NA NA NA NA NA 0.0971532321701097 FALSE NA ENSE00000916830_001 ENSE00000916830 001 1 38172603 38172772 + 47 87 36 A G 38172616 1265 14 GGCCCTAAGGGCCGTGGCCAGTTTAACCCACTCCCCTTTCTATTCAGAGCCTGCGATTATTGGCCAGTGACTTGCAGAGGCACAGTATTGCCCAGCTGGATCCAGAGGCCTTGGGAAACATTAAGAAGCTCTCCGTAAGTCTCATATTCATCTCCACACATAGGATGCCT 37706930 37707100 37706943 37706944 37706944 upstr_intron -34 -0.702127659574468 GGCCCTAAGGGCCGTGGCCAGTTTAACCCACTCCCCTTTCTATTCAGAGCCTGCGATTATTGGCCAGTGACTTGCAGAGGCACAGTATTGCCCAGCTGGATCCAGAGGCCTTGGGAAACATTAAGAAGCTCTCCGTAAGTCTCATATTCATCTCCACACATAGGATGCCT GGCCCTAAGGGCCATGGCCAGTTTAACCCACTCCCCTTTCTATTCAGAGCCTGCGATTATTGGCCAGTGACTTGCAGAGGCACAGTATTGCCCAGCTGGATCCAGAGGCCTTGGGAAACATTAAGAAGCTCTCCGTAAGTCTCATATTCATCTCCACACATAGGATGCCT mutant NA NA NA NA NA 29 697 0.872585860039028 0.95 0.911292930019514 0.85 0.905169751401349 0.95 0.959465180739601 NA NA -0.0774141399609715 -0.00946518073960123 0.877584875700674 0.954732590369801 NA -0.0434396603502863 NA FALSE NA 0 -0.067 . intron_variant MODIFIER CDCA8 HGNC 14629 ENST00000327331 9/10 rs536093843 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAT A,G 1.647e-05 1:37706944 CDCA8 HGNC Symbol protein_coding 17301 ENSG00000134690 ENSE00000916830 intron_variant 0.044389 0.15704 0.06557 0.256867 0.610841743796093 0.086856 0.0971532321701097 FALSE 1.62974e-05 ENSE00000918197_000 ENSE00000918197 000 12 120802458 120802627 - 59 42 69 NA NA NA NA NA AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 NA NA NA NA NA NA AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT natural 83 72 0.996270356582059 0.993383847658212 0.994827102120135 2345 3315 0.920643289343597 0.941613141598379 0.931128215470988 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 0 0 0 0 0.994827102120135 0.931128215470988 0 0 0 FALSE FALSE NA NA NA NA NA RPS27P25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSI1 NA NA NA ENSG00000135097 ENSE00000918197 NA NA NA NA NA NA NA 0.997146450593471 TRUE NA ENSE00000918197_007 ENSE00000918197 007 12 120802458 120802627 - 59 42 69 C T 120802496 3575 132 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGAAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 120364692 120364693 120364693 downstr_intron 21 1.36206896551724 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGAAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT mutant 53 72 0.85 0.85 0.85 NA NA NA NA NA 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 -0.146270356582059 -0.143383847658212 NA NA 0.994827102120135 0.931128215470988 -0.144827102120135 NA NA NA FALSE 0.011 0.573 . upstream_gene_variant MODIFIER RPS27P25 HGNC 36020 ENST00000477404 rs368434505 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 12:120364693 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918197 intron_variant 1.262712 0.97183 0.19923 0.062308 0.724550420214276 0.135498 0.997146450593471 TRUE 1.81972e-05 ENSE00000918197_009 ENSE00000918197 009 12 120802458 120802627 - 59 42 69 C T 120802502 3577 126 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATATCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 120364698 120364699 120364699 downstr_intron 15 1.25862068965517 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATATCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT mutant NA NA NA NA NA 75 351 1 0.99611258445692 0.99805629222846 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 NA NA 0.0793567106564027 0.0544994428585412 0.994827102120135 0.931128215470988 NA 0.066928076757472 NA FALSE NA 0 0.301 . upstream_gene_variant MODIFIER RPS27P25 HGNC 36020 ENST00000477404 1 NA ACA C,T 2.471e-05 12:120364699 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918197 intron_variant 0.742046 0.22677 0.08876 0.062308 0.668516021291685 0.111516 0.997146450593471 TRUE 8.7591e-06 ENSE00000918197_012 ENSE00000918197 012 12 120802458 120802627 - 59 42 69 C T 120802512 3580 116 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGATGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 120364708 120364709 120364709 downstr_intron 5 1.08620689655172 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGATGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT mutant NA NA NA NA NA 56 20 0 0 0 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 NA NA -0.920643289343597 -0.941613141598379 0.994827102120135 0.931128215470988 NA -0.931128215470988 NA TRUE NA 0.998 5.513 . upstream_gene_variant MODIFIER RPS27P25 HGNC 36020 ENST00000477404 rs376030026 1 NA T:0 T:0.0001 ACC C,T 3.295e-05 12:120364709 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918197 splice_region_variant 2.782173 0.99299 0.95428 0.062308 0.985146654927765 0.97137 0.997146450593471 TRUE 3.4151e-05 ENSE00000918197_017 ENSE00000918197 017 12 120802458 120802627 - 59 42 69 A G 120802575 3585 53 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCCCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 120364771 120364772 120364772 upstr_intron -17 -0.231884057971014 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCCCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT mutant NA NA NA NA NA 63 42 1 1 1 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 NA NA 0.0793567106564027 0.0583868584016213 0.994827102120135 0.931128215470988 NA 0.068871784529012 NA FALSE NA 0.092 1.121 . upstream_gene_variant MODIFIER RPS27P25 HGNC 36020 ENST00000477404 1 NA GAG A,G 8.237e-06 12:120364772 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918197 intron_variant 1.424665 0.4377 0.22124 0.099367 0.799883261713096 0.609466 0.997146450593471 TRUE 8.49113e-06 ENSE00000918197_020 ENSE00000918197 020 12 120802458 120802627 - 59 42 69 T C 120802590 3588 38 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCGAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 120364786 120364787 120364787 upstr_intron -32 -0.449275362318841 AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCGAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT mutant NA NA NA NA NA 85 67 1 1 1 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 NA NA 0.0793567106564027 0.0583868584016213 0.994827102120135 0.931128215470988 NA 0.068871784529012 NA FALSE NA 0.002 -0.024 . upstream_gene_variant MODIFIER RPS27P25 HGNC 36020 ENST00000477404 1 NA TTG T,C 8.237e-06 12:120364787 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918197 intron_variant 1.310162 0.18776 0.0334 0.099367 0.668860180794903 0.095872 0.997146450593471 TRUE 1.33897e-05 ENSE00000918197_023 ENSE00000918197 023 12 120802458 120802627 - 59 42 69 G A 120802598 3591 30 AAGGCTGTGTGGTCGCTCTTCTAAAAATGTGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 120364794 120364795 120364795 upstr_intron -40 -0.565217391304348 AAGGCTGTGTGGTCGCTCTTCTAAAAATGTGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT mutant NA NA NA NA NA 241 137 0.991552874942309 1 0.995776437471154 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 NA NA 0.0709095855987114 0.0583868584016213 0.994827102120135 0.931128215470988 NA 0.0646482220001663 NA FALSE NA 0 -0.497 . upstream_gene_variant MODIFIER RPS27P25 HGNC 36020 ENST00000477404 rs201453707 1 A:0.0004 A:0.0008 A:0.0014 NA A:0 A:0 A:0 A:0.0025 A:0.0001 CGC G,A 0.0002471 12:120364795 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918197 intron_variant 0.480101 0.11922 0.00179 0.099367 0.74500546124636 0.095872 0.997146450593471 TRUE 0.000203136 ENSE00000918197_024 ENSE00000918197 024 12 120802458 120802627 - 59 42 69 C A 120802599 3592 29 AAGGCTGTGTGGTCGCTCTTCTAAAAATTCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 120364795 120364796 120364796 upstr_intron -41 -0.579710144927536 AAGGCTGTGTGGTCGCTCTTCTAAAAATTCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT mutant NA NA NA NA NA 1163 172 0.999868212972522 1 0.999934106486261 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 NA NA 0.0792249236289247 0.0583868584016213 0.994827102120135 0.931128215470988 NA 0.068805891015273 NA FALSE NA 0 0.148 rs147530067 upstream_gene_variant MODIFIER RPS27P25 HGNC 36020 ENST00000477404 rs147530067 1 A:0.0030 A:0.0113 A:0 NA A:0 A:0 A:0 A:0.0082 A:0 GCA C,A 0.0007085 12:120364796 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918197 intron_variant 0.719813 0.23075 0.07503 0.099367 0.749974796812308 0.095872 0.997146450593471 TRUE 0.000553322 ENSE00000918197_BRK ENSE00000918197 BRK 12 120802458 120802627 - 59 42 69 A,G; T,T NA NA NA AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTTTATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGCCAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT 120364654 120364824 NA NA NA NA NA NA AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTTTATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGCCAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT AAGGCTGTGTGGTCGCTCTTCTAAAAATGCGATAACCAAGACCCCTTCTACCTCTCCCTTTTCTTGTAGATTGACCCTAAGGTGGCCTTCCCTCGGCGAGCACAGCCCAAGGTAGGTGTGTCTATGTCTGGGAGGAGCTCTCTTACTATGGGCAATGCTGGGCAGTGATT control 38 42 0 0 0 NA NA NA NA NA 0.996270356582059 0.993383847658212 0.920643289343597 0.941613141598379 -0.996270356582059 -0.993383847658212 NA NA 0.994827102120135 0.931128215470988 -0.994827102120135 NA NA NA TRUE NA NA NA NA NA RPS27P25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSI1 NA NA NA ENSG00000135097 ENSE00000918197 NA NA NA NA NA NA NA 0.997146450593471 TRUE NA ENSE00000918198_000 ENSE00000918198 000 12 120800813 120800982 - 33 93 44 NA NA NA NA NA CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 NA NA NA NA NA NA CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG natural 47 55 0.999449386978982 0.999383499426071 0.999416443202527 1502 647 0.960099677769149 0.973637621520552 0.96686864964485 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 0 0 0 0 0.999416443202527 0.96686864964485 0 0 0 FALSE FALSE NA NA NA NA NA MSI1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSI1 NA NA NA ENSG00000135097 ENSE00000918198 NA NA NA NA NA NA NA 0.997146450593471 TRUE NA ENSE00000918198_002 ENSE00000918198 002 12 120800813 120800982 - 33 93 44 C T 120800826 3546 157 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCACTTGCTGCTGGGG 120363009 120363179 120363022 120363023 120363023 downstr_intron 20 1.625 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCACTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 44 420 0.970901624833049 0.999454472032489 0.985178048432769 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.0108019470639003 0.0258168505119366 0.999416443202527 0.96686864964485 NA 0.0183093987879184 NA FALSE NA 0.001 2.07 . intron_variant MODIFIER MSI1 HGNC 7330 ENST00000257552 6/14 1 NA GCG C,T 3.295e-05 12:120363023 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 intron_variant 0.475792 0.53648 0.37116 0.116174 0.726711375145039 0.104615 0.997146450593471 TRUE 3.27987e-05 ENSE00000918198_004 ENSE00000918198 004 12 120800813 120800982 - 33 93 44 C T 120800830 3548 153 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGAGGCGCTTGCTGCTGGGG 120363009 120363179 120363026 120363027 120363027 downstr_intron 16 1.5 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGAGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 23 154 1 0.998503344779611 0.999251672389806 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.0399003222308515 0.0248657232590587 0.999416443202527 0.96686864964485 NA 0.0323830227449551 NA FALSE NA 0.006 0.925 rs189393039 intron_variant MODIFIER MSI1 HGNC 7330 ENST00000257552 6/14 rs189393039 1 T:0.0014 T:0.0008 T:0.0014 NA T:0 T:0.004 T:0.001 T:0 T:0.0012 CCC C,T 0.001713 12:120363027 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 intron_variant 1.060567 0.57627 0.18576 0.116174 0.676965883025044 0.665994 0.997146450593471 TRUE 0.00174607 ENSE00000918198_005 ENSE00000918198 005 12 120800813 120800982 - 33 93 44 C T 120800842 3549 141 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGAGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363038 120363039 120363039 downstr_intron 4 1.125 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGAGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 66 151 1 1 1 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.0399003222308515 0.0263623784794477 0.999416443202527 0.96686864964485 NA 0.0331313503551496 NA FALSE NA 1 3.474 . splice_region_variant&intron_variant LOW MSI1 HGNC 7330 ENST00000257552 6/14 rs201912912 1 NA T:0 T:0.0001 CCC C,T 8.236e-06 12:120363039 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 splice_region_variant 1.817731 0.98196 0.70957 0 0.936800395301423 0.831118 0.997146450593471 TRUE 4.06798e-06 ENSE00000918198_006 ENSE00000918198 006 12 120800813 120800982 - 33 93 44 A G 120800864 3550 119 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATACTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363060 120363061 120363061 exon -19 0.806451612903226 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATACTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 63 206 1 0.99907090828997 0.999535454144985 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.0399003222308515 0.0254332867694173 0.999416443202527 0.96686864964485 NA 0.0326668045001344 NA FALSE NA 1 1.549 . synonymous_variant LOW MSI1 HGNC 7330 ENST00000257552 6/15 1 NA AAT A,G 2.471e-05 12:120363061 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 synonymous_variant -0.832622 0.9752 0.80389 0.560101 0.441891193400917 0 0.997146450593471 TRUE 1.62456e-05 ENSE00000918198_007 ENSE00000918198 007 12 120800813 120800982 - 33 93 44 T C 120800877 3551 106 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGGCGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363073 120363074 120363074 exon -32 0.666666666666667 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGGCGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant 60 120 0.85 0.85 0.85 NA NA NA NA NA 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 -0.149449386978982 -0.149383499426071 NA NA 0.999416443202527 0.96686864964485 -0.149416443202527 NA NA NA FALSE 1 5.948 . missense_variant MODERATE MSI1 HGNC 7330 ENST00000257552 6/15 1 deleterious(0.03) probably_damaging(0.997) NA GTC T,C 8.236e-06 12:120363074 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 missense_variant 5.359384 0.99158 0.94464 0.560101 0.998186573220839 0 0.997146450593471 TRUE NA ENSE00000918198_008 ENSE00000918198 008 12 120800813 120800982 - 33 93 44 C T 120800885 3552 98 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACAGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363081 120363082 120363082 exon -40 0.580645161290323 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACAGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant 17 25 0.982780192333289 0.992781627766246 0.987780910049767 87 36 1 1 1 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 -0.0166691946456929 -0.00660187165982573 0.0399003222308515 0.0263623784794477 0.999416443202527 0.96686864964485 -0.0116355331527593 0.0331313503551496 0.0447668835079089 FALSE FALSE 0.001 -1.604 . synonymous_variant LOW MSI1 HGNC 7330 ENST00000257552 6/15 1 NA CCG C,T 5.765e-05 12:120363082 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 synonymous_variant 1.317227 0.88633 0.08522 0.560101 0.858168048394985 0 0.997146450593471 TRUE 6.09147e-05 ENSE00000918198_009 ENSE00000918198 009 12 120800813 120800982 - 33 93 44 G A 120800886 3553 97 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCATGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363082 120363083 120363083 exon -41 0.56989247311828 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCATGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant 46 14 0.987340102085832 0.988343344406303 0.987841723246068 119 53 1 1 1 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 -0.0121092848931498 -0.0110401550197686 0.0399003222308515 0.0263623784794477 0.999416443202527 0.96686864964485 -0.0115747199564592 0.0331313503551496 0.0447060703116088 FALSE FALSE 1 7.617 rs149956156 missense_variant MODERATE MSI1 HGNC 7330 ENST00000257552 6/15 rs149956156 1 deleterious(0) probably_damaging(0.99) NA A:0 A:0.0001 CGT G,A 3.295e-05 12:120363083 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 missense_variant 6.252386 0.99386 0.97015 0.560101 0.999220281747523 0 0.997146450593471 TRUE 2.03061e-05 ENSE00000918198_010 ENSE00000918198 010 12 120800813 120800982 - 33 93 44 T G 120800887 3554 96 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCCCGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363083 120363084 120363084 exon -42 0.559139784946237 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCCCGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 202 41 0.989204642340174 1 0.994602321170087 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.0291049645710252 0.0263623784794477 0.999416443202527 0.96686864964485 NA 0.0277336715252364 NA FALSE NA 1 7.662 . missense_variant MODERATE MSI1 HGNC 7330 ENST00000257552 6/15 1 deleterious(0) probably_damaging(0.986) NA GTG T,G 8.236e-06 12:120363084 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 missense_variant 5.567127 0.99195 0.98506 0.560101 0.996350254854404 0 0.997146450593471 TRUE 4.06101e-06 ENSE00000918198_012 ENSE00000918198 012 12 120800813 120800982 - 33 93 44 C T 120800897 3556 86 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCAGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363093 120363094 120363094 exon 42 0.451612903225806 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCAGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 72 23 1 1 1 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.0399003222308515 0.0263623784794477 0.999416443202527 0.96686864964485 NA 0.0331313503551496 NA FALSE NA 0.002 -1.89 . synonymous_variant LOW MSI1 HGNC 7330 ENST00000257552 6/15 1 NA CCG C,T 1.647e-05 12:120363094 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 synonymous_variant 2.182719 0.94783 0.06722 0.560101 0.791151064235819 0 0.997146450593471 TRUE 1.21828e-05 ENSE00000918198_013 ENSE00000918198 013 12 120800813 120800982 - 33 93 44 C T 120800903 3557 80 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGACTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363099 120363100 120363100 exon 36 0.387096774193548 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGACTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant 10 11 1 0.949782612873299 0.97489130643665 NA NA NA NA NA 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 0.000550613021017887 -0.0496008865527722 NA NA 0.999416443202527 0.96686864964485 -0.0245251367658771 NA NA NA FALSE 0.246 -0.527 . synonymous_variant LOW MSI1 HGNC 7330 ENST00000257552 6/15 1 NA GCC C,T 8.237e-06 12:120363100 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 synonymous_variant 1.262726 0.74273 0.1099 0.560101 0.512582626328559 0 0.997146450593471 TRUE 4.06388e-06 ENSE00000918198_015 ENSE00000918198 015 12 120800813 120800982 - 33 93 44 C T 120800909 3559 74 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTAGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363105 120363106 120363106 exon 30 0.32258064516129 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTAGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant 29 23 0.98870190500568 0.999770554553633 0.994236229779656 12 659 1 0.998777967222054 0.999388983611027 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 -0.010747481973302 0.000387055127561209 0.0399003222308515 0.025140345701502 0.999416443202527 0.96686864964485 -0.00518021342287039 0.0325203339661768 0.0377005473890472 FALSE FALSE 0.126 -0.485 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:120363106 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 synonymous_variant 1.110132 0.38198 0.09362 0.560101 0.693949976014149 0 0.997146450593471 TRUE 8.12203e-06 ENSE00000918198_016 ENSE00000918198 016 12 120800813 120800982 - 33 93 44 C G 120800909 3560 74 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTCGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363105 120363106 120363106 exon 30 0.32258064516129 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTCGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 51 359 0.965193476499789 1 0.982596738249895 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.00509379873064064 0.0263623784794477 0.999416443202527 0.96686864964485 NA 0.0157280886050442 NA FALSE NA 0.126 -0.485 NA NA NA MSI1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSI1 NA NA NA ENSG00000135097 ENSE00000918198 synonymous_variant 0.615622 0.3929 0.12257 0.560101 0.643961865354756 0 0.997146450593471 TRUE 5.68542e-05 ENSE00000918198_020 ENSE00000918198 020 12 120800813 120800982 - 33 93 44 G C 120800948 3564 35 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTGCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363144 120363145 120363145 upstr_intron -10 -0.204545454545455 CCACAGGACTCAGATGCCCACTTTCTCATTCCCTGCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant 17 33 0.956741013041386 0.922166952922825 0.939453982982106 17 474 1 0.999597544489086 0.999798772244543 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 -0.0427083739375959 -0.0772165465032464 0.0399003222308515 0.0259599229685334 0.999416443202527 0.96686864964485 -0.0599624602204211 0.0329301225996925 0.0928925828201136 FALSE FALSE 1 0.995 . intron_variant MODIFIER MSI1 HGNC 7330 ENST00000257552 5/14 1 NA GGA G,C 8.236e-06 12:120363145 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 intron_variant 1.681098 0.96923 0.90151 0.077194 0.801859071407948 0.495428 0.997146450593471 TRUE 4.06425e-06 ENSE00000918198_022 ENSE00000918198 022 12 120800813 120800982 - 33 93 44 G A 120800965 3566 18 CCACAGGACTCAGATGCTCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363161 120363162 120363162 upstr_intron -27 -0.590909090909091 CCACAGGACTCAGATGCTCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 120 21 1 1 1 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.0399003222308515 0.0263623784794477 0.999416443202527 0.96686864964485 NA 0.0331313503551496 NA FALSE NA 1 3.14 . intron_variant MODIFIER MSI1 HGNC 7330 ENST00000257552 5/14 1 NA GGG G,A 3.295e-05 12:120363162 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 intron_variant 2.283315 0.97309 0.8405 0.077194 0.857047180965732 0.843978 0.997146450593471 TRUE 3.66223e-05 ENSE00000918198_023 ENSE00000918198 023 12 120800813 120800982 - 33 93 44 A C 120800968 3567 15 CCACAGGACTCAGAGGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 120363164 120363165 120363165 upstr_intron -30 -0.659090909090909 CCACAGGACTCAGAGGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG mutant NA NA NA NA NA 412 13 0.981901807992789 1 0.990950903996394 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 NA NA 0.0218021302236402 0.0263623784794477 0.999416443202527 0.96686864964485 NA 0.0240822543515439 NA FALSE NA 1 3.053 . intron_variant MODIFIER MSI1 HGNC 7330 ENST00000257552 5/14 1 NA CAT A,C 2.471e-05 12:120363165 MSI1 HGNC Symbol protein_coding 27850 ENSG00000135097 ENSE00000918198 intron_variant 2.050751 0.97441 0.89157 0.077194 0.780119855672148 0.416931 0.997146450593471 TRUE 2.84942e-05 ENSE00000918198_BRK ENSE00000918198 BRK 12 120800813 120800982 - 33 93 44 A,G; T,T NA NA NA CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACTTATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGCCGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG 120363009 120363179 NA NA NA NA NA NA CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACTTATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGCCGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG CCACAGGACTCAGATGCCCACTTTCTCATTCCCTCCCCTAACAGATGGTGACTCGAACGAAGAAGATCTTTGTGGGGGGGCTGTCGGTGAACACCACGGTGGAGGACGTGAAGCAATATTTTGAGCAGTTTGGGAAGGTGGGTTTAAACTGGGGGCGCTTGCTGCTGGGG control 427 184 0.0122844400602936 0 0.00614222003014678 NA NA NA NA NA 0.999449386978982 0.999383499426071 0.960099677769149 0.973637621520552 -0.987164946918689 -0.999383499426071 NA NA 0.999416443202527 0.96686864964485 -0.99327422317238 NA NA NA TRUE NA NA NA NA NA MSI1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSI1 NA NA NA ENSG00000135097 ENSE00000918198 NA NA NA NA NA NA NA 0.997146450593471 TRUE NA ENSE00000918473_000 ENSE00000918473 000 11 44092746 44092915 + 60 60 50 NA NA NA NA NA GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 NA NA NA NA NA NA GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC natural 47 26 0.95530181564157 0.957798973177568 0.956550394409569 664 1141 0.971841075035397 0.988155419237752 0.979998247136575 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 0 0 0 0 0.956550394409569 0.979998247136575 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACCS NA NA NA ENSG00000110455 ENSE00003591716 NA NA NA NA NA NA NA 0.00017166582720853 FALSE NA ENSE00000918473_002 ENSE00000918473 002 11 44092746 44092915 + 60 60 50 C T 44092762 1063 17 GGGCCTTTCACTGGCATCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071211 44071212 44071212 upstr_intron -44 -0.716666666666667 GGGCCTTTCACTGGCATCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 239 687 1 0.99949987626 0.99974993813 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 0.0113444570222485 0.956550394409569 0.979998247136575 NA 0.0197516909934256 NA FALSE NA 0 -0.936 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:44071212 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.591671 0.19302 0.05245 0 0.770871157461498 0.0686819 0.00017166582720853 FALSE 8.15149e-06 ENSE00000918473_003 ENSE00000918473 003 11 44092746 44092915 + 60 60 50 C A 44092762 1064 17 GGGCCTTTCACTGGCAACCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071211 44071212 44071212 upstr_intron -44 -0.716666666666667 GGGCCTTTCACTGGCAACCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant 28 55 0.938107335359581 0.92923326899735 0.933670302178466 27 400 0.836998817870136 0.999235213372237 0.918117015621186 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 -0.0171944802819884 -0.0285657041802181 -0.134842257165262 0.0110797941344849 0.956550394409569 0.979998247136575 -0.0228800922311033 -0.0618812315153885 0.0390011392842852 FALSE FALSE 0 -0.936 NA NA NA ACCS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACCS NA NA NA ENSG00000110455 ENSE00003591716 intron_variant 0.620959 0.20134 0.06277 0 0.797626553698602 0.0686819 0.00017166582720853 FALSE 8.15149e-06 ENSE00000918473_004 ENSE00000918473 004 11 44092746 44092915 + 60 60 50 C T 44092764 1065 19 GGGCCTTTCACTGGCACCTCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071213 44071214 44071214 upstr_intron -42 -0.683333333333333 GGGCCTTTCACTGGCACCTCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 19 579 0.995585866881599 1 0.9977929334408 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.023744791846202 0.0118445807622483 0.956550394409569 0.979998247136575 NA 0.0177946863042251 NA FALSE NA 0 -1.085 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 rs375840611 1 NA T:0 T:0.0001 CCC C,T 8.236e-06 11:44071214 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.412431 0.18009 0.0425 0 0.674159089228215 0.0686819 0.00017166582720853 FALSE 8.1367e-06 ENSE00000918473_005 ENSE00000918473 005 11 44092746 44092915 + 60 60 50 C T 44092765 1066 20 GGGCCTTTCACTGGCACCCTCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071214 44071215 44071215 upstr_intron -41 -0.666666666666667 GGGCCTTTCACTGGCACCCTCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 208 111 1 0.996853383349427 0.998426691674714 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 0.00869796411167556 0.956550394409569 0.979998247136575 NA 0.0184284445381391 NA FALSE NA 0 -0.466 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA CCC C,T 8.236e-06 11:44071215 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.70751 0.20722 0.0586 0 0.748842308104648 0.0686819 0.00017166582720853 FALSE 4.06782e-06 ENSE00000918473_007 ENSE00000918473 007 11 44092746 44092915 + 60 60 50 C G 44092767 1068 22 GGGCCTTTCACTGGCACCCCCGTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071216 44071217 44071217 upstr_intron -39 -0.633333333333333 GGGCCTTTCACTGGCACCCCCGTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 37 996 0.931371469771495 0.932567086431205 0.93196927810135 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA -0.0404696052639024 -0.0555883328065471 0.956550394409569 0.979998247136575 NA -0.0480289690352247 NA FALSE NA 0 0.52 NA NA NA ACCS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:44071217 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.681229 0.27268 0.09922 0 0.85216115218036 0.0686819 0.00017166582720853 FALSE 3.25383e-05 ENSE00000918473_008 ENSE00000918473 008 11 44092746 44092915 + 60 60 50 C T 44092770 1069 25 GGGCCTTTCACTGGCACCCCCCTGTCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071219 44071220 44071220 upstr_intron -36 -0.583333333333333 GGGCCTTTCACTGGCACCCCCCTGTCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 41 71 1 0.986005839132514 0.993002919566257 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 -0.00214958010523791 0.956550394409569 0.979998247136575 NA 0.0130046724296823 NA FALSE NA 0.001 0.23 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA GCC C,T 8.236e-06 11:44071220 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 1.187033 0.25483 0.0943 0 0.840262807485633 0.0686819 0.00017166582720853 FALSE 4.06729e-06 ENSE00000918473_009 ENSE00000918473 009 11 44092746 44092915 + 60 60 50 C T 44092775 1070 30 GGGCCTTTCACTGGCACCCCCCTGCCATGTTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071224 44071225 44071225 upstr_intron -31 -0.5 GGGCCTTTCACTGGCACCCCCCTGCCATGTTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant 15 22 0.998763294782285 0.98024609696751 0.989504695874898 426 253 0.996867036173855 0.999849436309143 0.998358236241499 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 0.0434614791407155 0.0224471237899421 0.0250259611384573 0.0116940170713917 0.956550394409569 0.979998247136575 0.0329543014653288 0.0183599891049245 0.0145943123604043 FALSE FALSE 0 -0.178 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 rs377581240 1 NA T:0.0002 T:0 GCT C,T 3.295e-05 11:44071225 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 1.130972 0.24275 0.02571 0 0.820871293904107 0.0686187 0.00017166582720853 FALSE 1.62608e-05 ENSE00000918473_011 ENSE00000918473 011 11 44092746 44092915 + 60 60 50 C T 44092784 1072 39 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGTCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071233 44071234 44071234 upstr_intron -22 -0.35 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGTCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 10 178 1 1 1 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 0.0118445807622483 0.956550394409569 0.979998247136575 NA 0.0200017528634254 NA FALSE NA 0 -1.572 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA GCC C,T 1.647e-05 11:44071234 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.86042 0.20239 0.02507 0 0.598769019018479 0.0527719 0.00017166582720853 FALSE 8.12592e-06 ENSE00000918473_012 ENSE00000918473 012 11 44092746 44092915 + 60 60 50 C A 44092800 1073 55 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATATCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071249 44071250 44071250 upstr_intron -6 -0.0833333333333333 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATATCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant 14 30 0.85 0.850096375425999 0.850048187712999 176 14 0.958047972356935 0.95 0.954023986178467 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 -0.10530181564157 -0.10770259775157 -0.0137931026784627 -0.0381554192377517 0.956550394409569 0.979998247136575 -0.10650220669657 -0.0259742609581072 0.0805279457384624 FALSE FALSE 0.951 0.892 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 rs373156903 1 NA A:0 A:0.0001 TCT C,A 1.647e-05 11:44071250 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 splice_region_variant 1.545514 0.90248 0.78829 0.262962 0.714913327587722 0.202783 0.00017166582720853 FALSE 8.12203e-06 ENSE00000918473_013 ENSE00000918473 013 11 44092746 44092915 + 60 60 50 A G 44092809 1074 64 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCGTCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071258 44071259 44071259 exon 4 0.0666666666666667 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCGTCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 67 34 0.995393595989515 1 0.997696797994758 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0235525209541181 0.0118445807622483 0.956550394409569 0.979998247136575 NA 0.0176985508581832 NA FALSE NA 1 5.341 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA CAT A,G 8.236e-06 11:44071259 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 missense_variant 1.890065 0.9525 0.91202 0.706298 0.997281177715484 0 0.00017166582720853 FALSE 4.06085e-06 ENSE00000918473_015 ENSE00000918473 015 11 44092746 44092915 + 60 60 50 A C 44092837 1076 92 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACACACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071286 44071287 44071287 exon -29 0.533333333333333 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACACACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 141 134 1 0.983107409896698 0.991553704948349 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 -0.00504800934105376 0.956550394409569 0.979998247136575 NA 0.0115554578117744 NA FALSE NA 1 7.022 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA AAA A,C 8.236e-06 11:44071287 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 missense_variant 5.710919 0.95308 0.93856 0.706298 0.997926252056269 0 0.00017166582720853 FALSE 4.06075e-06 ENSE00000918473_016 ENSE00000918473 016 11 44092746 44092915 + 60 60 50 C A 44092839 1077 94 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAAATCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071288 44071289 44071289 exon -27 0.566666666666667 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAAATCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 73 44 1 1 1 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 0.0118445807622483 0.956550394409569 0.979998247136575 NA 0.0200017528634254 NA FALSE NA 1 5.872 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 COSM1675953 1 NA ACT C,A 8.236e-06 11:44071289 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 missense_variant 7.004597 0.95963 0.9245 0.706298 0.996020554721607 0 0.00017166582720853 FALSE 4.06085e-06 ENSE00000918473_017 ENSE00000918473 017 11 44092746 44092915 + 60 60 50 C T 44092841 1078 96 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTTTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071290 44071291 44071291 exon -25 0.6 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTTTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 291 180 0.985943048177541 0.98988159970105 0.987912323939295 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0141019731421433 0.00172618046329809 0.956550394409569 0.979998247136575 NA 0.00791407680272072 NA FALSE NA 1 0.93 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA TCT C,T 8.236e-06 11:44071291 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 synonymous_variant 1.847467 0.93966 0.7148 0.706298 0.842440905376393 0 0.00017166582720853 FALSE 4.06091e-06 ENSE00000918473_019 ENSE00000918473 019 11 44092746 44092915 + 60 60 50 G A 44092876 1080 131 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAAGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071325 44071326 44071326 downstr_intron 11 1.22448979591837 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAAGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 43 1002 1 0.987020326833471 0.993510163416736 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 -0.00113509240428045 0.956550394409569 0.979998247136575 NA 0.0135119162801611 NA FALSE NA 0.001 0.811 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA AGG G,A 8.236e-06 11:44071326 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.354199 0.20736 0.07466 0.099367 0.73040302268118 0.0680118 0.00017166582720853 FALSE 4.06319e-06 ENSE00000918473_020 ENSE00000918473 020 11 44092746 44092915 + 60 60 50 C T 44092880 1081 135 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCTCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071329 44071330 44071330 downstr_intron 15 1.30612244897959 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCTCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 34 54 1 1 1 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 0.0118445807622483 0.956550394409569 0.979998247136575 NA 0.0200017528634254 NA FALSE NA 0 -3.094 rs2074039 upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 rs2074039 1 T:0.0935 T:0.0477 T:0.0908 NA T:0.1032 T:0.1272 T:0.1125 T:0.059 T:0.1392 CCC C,T 0.117 11:44071330 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.002048 0.06171 0.005 0.062308 0.499131803459176 0.108658 0.00017166582720853 FALSE 0.115306 ENSE00000918473_021 ENSE00000918473 021 11 44092746 44092915 + 60 60 50 C G 44092882 1082 137 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCGTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071331 44071332 44071332 downstr_intron 17 1.3469387755102 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCGTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 150 67 1 0.980632345400253 0.990316172700126 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 -0.00752307383749917 0.956550394409569 0.979998247136575 NA 0.0103179255635517 NA FALSE NA 0 -0.434 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA CCT C,G 3.295e-05 11:44071332 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.628192 0.27556 0.10467 0.062308 0.760311091732546 0.108658 0.00017166582720853 FALSE 2.8471e-05 ENSE00000918473_022 ENSE00000918473 022 11 44092746 44092915 + 60 60 50 G T 44092888 1083 143 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGTGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 44071337 44071338 44071338 downstr_intron 23 1.46938775510204 GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGTGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC mutant NA NA NA NA NA 272 75 1 1 1 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA 0.0281589249646026 0.0118445807622483 0.956550394409569 0.979998247136575 NA 0.0200017528634254 NA FALSE NA 0 0.029 . upstream_gene_variant MODIFIER ACCS HGNC 23989 ENST00000527346 1 NA GGG G,T 3.295e-05 11:44071338 ACCS HGNC Symbol protein_coding 18297 ENSG00000110455 ENSE00003591716 intron_variant 0.256062 0.24797 0.09478 0.062308 0.53417842327977 0.108658 0.00017166582720853 FALSE 1.62742e-05 ENSE00000918473_BRK ENSE00000918473 BRK 11 44092746 44092915 + 60 60 50 A,G; T,T NA NA NA GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCTTGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGCCAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC 44071195 44071365 NA NA NA NA NA NA GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCTTGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGCCAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC GGGCCTTTCACTGGCACCCCCCTGCCATGCTAACTCTGCCTCTGTACCTCTCATCTCCAGGGCATCATTAACTTGGGCACCAGTGAGAACAAACTCTGCTTTGACCTGCTGTCCTGGCGGGTAAGTCCTAGGGCCCCTCTAGGGGGCATCACCAGCTCCGAGGAGCTGTC control NA NA NA NA NA 183 58 0 0 0 0.95530181564157 0.957798973177568 0.971841075035397 0.988155419237752 NA NA -0.971841075035397 -0.988155419237752 0.956550394409569 0.979998247136575 NA -0.979998247136575 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003591716 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00000919127_000 ENSE00000919127 000 6 126073105 126073274 + 48 84 38 NA NA NA NA NA TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 NA NA NA NA NA NA TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC natural NA NA NA NA NA 1221 2260 0.993504498015019 0.970886024652006 0.982195261333512 NA NA 0.993504498015019 0.970886024652006 NA NA 0 0 NA 0.982195261333512 NA 0 NA FALSE NA NA NA NA NA NA RP11-624M8.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HEY2 NA NA NA ENSG00000135547 ENSE00000919127 NA NA NA NA NA NA NA 0.444357733397612 FALSE NA ENSE00000919127_001 ENSE00000919127 001 6 126073105 126073274 + 48 84 38 T G 126073119 2107 15 TATCATTTGTGAATGCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125751972 125751973 125751973 upstr_intron -34 -0.6875 TATCATTTGTGAATGCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 916 205 0.999685084293523 0.989615031353246 0.994650057823385 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00618058627850482 0.0187290067012399 NA 0.982195261333512 NA 0.0124547964898724 NA FALSE NA 0.076 0.014 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 1 NA TTC T,G 1.647e-05 6:125751973 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 intron_variant -0.250819 0.30316 0.14185 0.093295 0.636660213459468 0.218918 0.444357733397612 FALSE 1.2209e-05 ENSE00000919127_002 ENSE00000919127 002 6 126073105 126073274 + 48 84 38 T G 126073128 2108 24 TATCATTTGTGAATTCATAAACTGTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125751981 125751982 125751982 upstr_intron -25 -0.5 TATCATTTGTGAATTCATAAACTGTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 59 904 1 0.999141811949293 0.999570905974647 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00649550198498139 0.0282557872972874 NA 0.982195261333512 NA 0.0173756446411344 NA FALSE NA 0.87 3.385 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 1 NA TTT T,G 8.237e-06 6:125751982 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 intron_variant -0.141806 0.83907 0.88482 0.093295 0.637327429908759 0.154479 0.444357733397612 FALSE 4.06623e-06 ENSE00000919127_004 ENSE00000919127 004 6 126073105 126073274 + 48 84 38 T C 126073140 2110 36 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCCTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125751993 125751994 125751994 upstr_intron -13 -0.25 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCCTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 19 1715 1 0.997090951136584 0.998545475568292 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00649550198498139 0.0262049264845782 NA 0.982195261333512 NA 0.0163502142347798 NA FALSE NA 0.944 0.287 rs193035394 upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 rs193035394 1 C:0.0038 C:0.0008 C:0.0058 NA C:0 C:0.0129 C:0.001 C:0.0011 C:0.0113 CTT T,C 0.008179 6:125751994 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 intron_variant 0.783196 0.93453 0.9404 0.093295 0.703383474274359 0.958943 0.444357733397612 FALSE 0.00914158 ENSE00000919127_005 ENSE00000919127 005 6 126073105 126073274 + 48 84 38 T G 126073141 2111 37 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTGCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125751994 125751995 125751995 upstr_intron -12 -0.229166666666667 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTGCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 399 154 0.989770672364513 0.991405065244874 0.990587868804694 NA NA 0.993504498015019 0.970886024652006 NA NA -0.00373382565050551 0.0205190405928684 NA 0.982195261333512 NA 0.00839260747118142 NA FALSE NA 0.993 0.73 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 1 NA TTC T,G 8.237e-06 6:125751995 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 intron_variant 0.58311 0.65137 0.85712 0.093295 0.595163183658694 0.361561 0.444357733397612 FALSE 4.06636e-06 ENSE00000919127_006 ENSE00000919127 006 6 126073105 126073274 + 48 84 38 T G 126073150 2112 46 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGAGAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752003 125752004 125752004 upstr_intron -3 -0.0416666666666667 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGAGAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 32 93 1 1 1 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00649550198498139 0.029113975347994 NA 0.982195261333512 NA 0.0178047386664877 NA FALSE NA 0.972 1.554 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 1 NA ATA T,G 8.237e-06 6:125752004 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 splice_region_variant 0.314339 0.98196 0.92094 0.093295 0.632342612447902 0.375833 0.444357733397612 FALSE 4.06246e-06 ENSE00000919127_008 ENSE00000919127 008 6 126073105 126073274 + 48 84 38 T C 126073157 2114 53 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTACAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752010 125752011 125752011 exon 5 0.0595238095238095 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTACAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 95 111 1 1 1 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00649550198498139 0.029113975347994 NA 0.982195261333512 NA 0.0178047386664877 NA FALSE NA 1 7.697 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 1 NA ATA T,C 8.237e-06 6:125752011 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 missense_variant 4.838305 0.9939 0.9839 0.608746 0.997343735309709 0 0.444357733397612 FALSE 4.0619e-06 ENSE00000919127_009 ENSE00000919127 009 6 126073105 126073274 + 48 84 38 A G 126073164 2115 60 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAGAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752017 125752018 125752018 exon 12 0.142857142857143 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAGAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 377 1257 0.994591693817272 0.966555211895133 0.980573452856202 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00108719580225314 -0.00433081275687341 NA 0.982195261333512 NA -0.00162180847731014 NA FALSE NA 1 2.938 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 1 NA AAA A,G 8.237e-06 6:125752018 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 synonymous_variant -0.685668 0.99024 0.93044 0.608746 0.79248104365856 0 0.444357733397612 FALSE 4.06154e-06 ENSE00000919127_010 ENSE00000919127 010 6 126073105 126073274 + 48 84 38 G T 126073167 2116 63 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGTCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752020 125752021 125752021 exon 15 0.178571428571429 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGTCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 219 21 0.998867021547324 1 0.999433510773662 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00536252353230493 0.029113975347994 NA 0.982195261333512 NA 0.0172382494401495 NA FALSE NA 1 1.779 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 1 NA GGC G,T 8.237e-06 6:125752021 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 missense_variant 5.224072 0.98157 0.92683 0.660085 0.997594296552719 0 0.444357733397612 FALSE 4.06157e-06 ENSE00000919127_011 ENSE00000919127 011 6 126073105 126073274 + 48 84 38 C T 126073171 2117 67 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTTGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752024 125752025 125752025 exon 19 0.226190476190476 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTTGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 347 48 0.994208381905218 1 0.997104190952609 NA NA 0.993504498015019 0.970886024652006 NA NA 0.000703883890198931 0.029113975347994 NA 0.982195261333512 NA 0.0149089296190965 NA FALSE NA 0.875 1.693 NA NA NA RP11-624M8.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:125752025 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 missense_variant 6.869228 0.98591 0.88487 0.660085 0.998793076951635 0 0.444357733397612 FALSE 4.06171e-06 ENSE00000919127_013 ENSE00000919127 013 6 126073105 126073274 + 48 84 38 G A 126073172 2119 68 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCAGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752025 125752026 125752026 exon 20 0.238095238095238 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCAGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 178 783 1 1 1 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00649550198498139 0.029113975347994 NA 0.982195261333512 NA 0.0178047386664877 NA FALSE NA 1 9.477 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 COSM3744909 1 NA CGG G,A 8.237e-06 6:125752026 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 missense_variant 6.97388 0.99554 0.99166 0.660085 0.999411847620556 0 0.444357733397612 FALSE 4.06187e-06 ENSE00000919127_014 ENSE00000919127 014 6 126073105 126073274 + 48 84 38 C T 126073177 2120 73 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATTGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752030 125752031 125752031 exon 25 0.297619047619048 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATTGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 202 1250 0.995852768274581 1 0.997926384137291 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00234827025956252 0.029113975347994 NA 0.982195261333512 NA 0.0157311228037783 NA FALSE NA 1 2.94 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 rs531916278&COSM3620155 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TCG C,T 8.237e-06 6:125752031 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 missense_variant 6.684952 0.98949 0.93989 0.660085 0.999212266282545 0 0.444357733397612 FALSE NA ENSE00000919127_015 ENSE00000919127 015 6 126073105 126073274 + 48 84 38 A G 126073207 2121 103 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAGGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752060 125752061 125752061 exon -30 0.654761904761905 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAGGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 22 445 1 1 1 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00649550198498139 0.029113975347994 NA 0.982195261333512 NA 0.0178047386664877 NA FALSE NA 0.998 0.739 . upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 1 NA AAG A,G 1.647e-05 6:125752061 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 missense_variant 2.6718 0.9677 0.82932 0.660085 0.994723261808239 0 0.444357733397612 FALSE 8.13061e-06 ENSE00000919127_017 ENSE00000919127 017 6 126073105 126073274 + 48 84 38 T C 126073212 2123 108 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTCGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752065 125752066 125752066 exon -25 0.714285714285714 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTCGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 1285 164 0.993992813922202 0.983159873291606 0.988576343606904 NA NA 0.993504498015019 0.970886024652006 NA NA 0.000488315907183012 0.0122738486396 NA 0.982195261333512 NA 0.00638108227339151 NA FALSE NA 0.89 -0.073 NA NA NA RP11-624M8.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:125752066 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 synonymous_variant -1.041271 0.96133 0.70495 0.660085 0.646136752367832 0 0.444357733397612 FALSE 4.06706e-06 ENSE00000919127_018 ENSE00000919127 018 6 126073105 126073274 + 48 84 38 T C 126073225 2124 121 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTCTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC 125751958 125752128 125752078 125752079 125752079 exon -12 0.869047619047619 TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTCTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC TATCATTTGTGAATTCATAAACTTTTGTTGTTTGCTTCTTTTGGATAGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAGTTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGTAAGCTATCCCCTCCCCAGAATCCCCCCACCCACCCC mutant NA NA NA NA NA 399 553 1 0.937248029182913 0.968624014591456 NA NA 0.993504498015019 0.970886024652006 NA NA 0.00649550198498139 -0.0336379954690931 NA 0.982195261333512 NA -0.0135712467420558 NA FALSE NA 1 5.934 rs148304301 upstream_gene_variant MODIFIER RP11-624M8.1 Clone_based_vega_gene NA ENST00000606001 rs148304301 1 NA C:0.0005 C:0 TTT T,C 4.119e-05 6:125752079 HEY2 HGNC Symbol protein_coding 13605 ENSG00000135547 ENSE00000919127 missense_variant 3.406474 0.99017 0.96841 0.660085 0.993975003233747 0 0.444357733397612 FALSE 4.07252e-05 ENSE00000919890_000 ENSE00000919890 000 12 52776189 52776358 - 32 96 42 NA NA NA NA NA GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 NA NA NA NA NA NA GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG natural 85 138 0.986566141315133 0.964631450494131 0.975598795904632 3146 3108 0.991407110488388 0.945924291166095 0.968665700827242 0.986566141315133 0.964631450494131 0.991407110488388 0.945924291166095 0 0 0 0 0.975598795904632 0.968665700827242 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00000919890 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000919890_006 ENSE00000919890 006 12 52776189 52776358 - 32 96 42 C A 52776215 1716 144 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGTGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382430 52382431 52382431 downstr_intron 6 1.19354838709677 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGTGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 440 1462 1 0.998575128852184 0.999287564426092 0.986566141315133 0.964631450494131 0.991407110488388 0.945924291166095 NA NA 0.00859288951161175 0.052650837686089 0.975598795904632 0.968665700827242 NA 0.0306218635988504 NA FALSE NA 0.029 -0.229 NA NA NA RP3-416H24.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC078865.1 NA NA NA ENSG00000258253 ENSE00000919890 splice_region_variant 1.740342 0.23276 0.01505 0.06567 0.756258370272336 0.291024 NA NA 4.06408e-06 ENSE00000919890_BRK ENSE00000919890 BRK 12 52776189 52776358 - 32 96 42 A,G; T,T NA NA NA GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACTTGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGCCGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 NA NA NA NA NA NA GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACTTGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGCCGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG control 244 253 0.191707312036776 0.117163849777451 0.154435580907114 1619 1321 0.00185889307012382 0.000242122617052926 0.00105050784358837 0.986566141315133 0.964631450494131 0.991407110488388 0.945924291166095 -0.794858829278357 -0.847467600716679 -0.989548217418264 -0.945682168549043 0.975598795904632 0.968665700827242 -0.821163214997518 -0.967615192983654 0.146451977986135 TRUE TRUE NA NA NA NA NA RP3-416H24.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC078865.1 NA NA NA ENSG00000258253 ENSE00000919890 NA NA NA NA NA NA NA NA NA NA ENSE00000920428_000 ENSE00000920428 000 12 58194882 58195051 - 45 69 56 NA NA NA NA NA GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCAGCATCTCCCAGCTCTTCTTTTAATTGTTCATATGTTTTTCCTGCCTGAGAAGAAGAGAGAGAAAACACAGGATGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 NA NA NA NA NA NA ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC natural 51 14 0.979539093972607 0.992710128821999 0.986124611397303 2120 1189 0.982694226722213 0.926550046775561 0.954622136748887 0.979539093972607 0.992710128821999 0.982694226722213 0.926550046775561 0 0 0 0 0.986124611397303 0.954622136748887 0 0 0 FALSE FALSE NA NA NA NA NA AVIL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AVIL NA NA NA ENSG00000135407 ENSE00003573463 NA NA NA NA NA NA NA 1.03036255351714e-10 FALSE NA ENSE00000920482_000 ENSE00000920482 000 12 58090017 58090186 + 41 99 30 NA NA NA NA NA TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 NA NA NA NA NA NA TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC natural NA NA NA NA NA 1439 1109 0.78211916555983 0.802814957029446 0.792467061294638 NA NA 0.78211916555983 0.802814957029446 NA NA 0 0 NA 0.792467061294638 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003504412 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00000920482_019 ENSE00000920482 019 12 58090017 58090186 + 41 99 30 G C 58090135 2305 119 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGCCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696351 57696352 57696352 exon -22 0.787878787878788 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGCCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 488 302 0.89746685078273 0.850482442504752 0.873974646643741 NA NA 0.78211916555983 0.802814957029446 NA NA 0.1153476852229 0.0476674854753056 NA 0.792467061294638 NA 0.0815075853491026 NA FALSE NA 0.987 0.143 NA NA NA OS9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OS9 NA NA NA ENSG00000135506 ENSE00003504412 missense_variant 2.525445 0.97337 0.79015 0.706548 0.985128032005242 0 1.13151214875817e-07 FALSE 4.08617e-06 ENSE00000921242_000 ENSE00000921242 000 11 47316999 47317168 + 48 84 38 NA NA NA NA NA TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 NA NA NA NA NA NA TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT natural 223 340 0.845068370862845 0.795280785558774 0.820174578210809 1070 515 0.901091961953391 0.869595532986502 0.885343747469947 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 0 0 0 0 0.820174578210809 0.885343747469947 0 0 0 FALSE FALSE NA NA NA NA NA MADD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MADD NA NA NA ENSG00000110514 ENSE00000921242 NA NA NA NA NA NA NA 0.000901823421065546 FALSE NA ENSE00000921242_002 ENSE00000921242 002 11 47316999 47317168 + 48 84 38 C T 47317019 1166 21 TGAGAGGAGATTGGACACCTTCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295467 47295468 47295468 upstr_intron -28 -0.5625 TGAGAGGAGATTGGACACCTTCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant NA NA NA NA NA 160 278 0.963382814062676 0.964082705170609 0.963732759616642 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 NA NA 0.0622908521092842 0.0944871721841068 0.820174578210809 0.885343747469947 NA 0.0783890121466955 NA FALSE NA 0 -0.174 . intron_variant MODIFIER MADD HGNC 6766 ENST00000395336 22/34 1 NA TCC C,T 8.237e-06 11:47295468 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 intron_variant 1.681264 0.25173 0.02982 0.156188 0.763566419257923 0.110523 0.000901823421065546 FALSE 4.06679e-06 ENSE00000921242_004 ENSE00000921242 004 11 47316999 47317168 + 48 84 38 C A 47317021 1168 23 TGAGAGGAGATTGGACACCTCCACTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295469 47295470 47295470 upstr_intron -26 -0.520833333333333 TGAGAGGAGATTGGACACCTCCACTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant NA NA NA NA NA 1443 578 0.995493878170228 0.985016944212785 0.990255411191506 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 NA NA 0.0944019162168368 0.115421411226283 0.820174578210809 0.885343747469947 NA 0.10491166372156 NA FALSE NA 0 0.54 . intron_variant MODIFIER MADD HGNC 6766 ENST00000395336 22/34 1 NA CCC C,A 1.647e-05 11:47295470 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 intron_variant 1.684489 0.24188 0.16183 0.156188 0.809004415580846 0.166661 0.000901823421065546 FALSE NA ENSE00000921242_005 ENSE00000921242 005 11 47316999 47317168 + 48 84 38 T C 47317023 1169 25 TGAGAGGAGATTGGACACCTCCCCCAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295471 47295472 47295472 upstr_intron -24 -0.479166666666667 TGAGAGGAGATTGGACACCTCCCCCAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant 99 359 0 0.00181232451836324 0.000906162259181622 NA NA NA NA NA 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 -0.845068370862845 -0.793468461040411 NA NA 0.820174578210809 0.885343747469947 -0.819268415951628 NA NA NA TRUE 0 1.669 . intron_variant MODIFIER MADD HGNC 6766 ENST00000395336 22/34 1 NA CTA T,C 2.471e-05 11:47295472 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 intron_variant 1.520636 0.22457 0.05423 0.156188 0.668910500489637 0.110523 0.000901823421065546 FALSE 8.13081e-06 ENSE00000921242_007 ENSE00000921242 007 11 47316999 47317168 + 48 84 38 A G 47317047 1171 49 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGGGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295495 47295496 47295496 exon 1 0.0119047619047619 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGGGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant NA NA NA NA NA 38 136 0.977426339714234 1 0.988713169857117 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 NA NA 0.0763343777608427 0.130404467013498 0.820174578210809 0.885343747469947 NA 0.103369422387171 NA FALSE NA 1 6.824 . missense_variant&splice_region_variant MODERATE MADD HGNC 6766 ENST00000395336 23/35 1 tolerated(0.1) benign(0.127) NA GAG A,G 8.236e-06 11:47295496 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 missense_variant 3.033262 0.98681 0.98466 0.706548 0.99346216239431 0 0.000901823421065546 FALSE 4.06289e-06 ENSE00000921242_013 ENSE00000921242 013 11 47316999 47317168 + 48 84 38 G A 47317071 1177 73 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCAGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295519 47295520 47295520 exon 25 0.297619047619048 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCAGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant NA NA NA NA NA 91 102 0.00331721558108726 0.128260955794569 0.0657890856878279 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 NA NA -0.897774746372304 -0.741334577191933 0.820174578210809 0.885343747469947 NA -0.819554661782119 NA TRUE NA 0.181 1.12 . missense_variant MODERATE MADD HGNC 6766 ENST00000395336 23/35 1 tolerated(1) benign(0.001) NA CGG G,A 1.647e-05 11:47295520 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 missense_variant -0.519932 0.49535 0.18675 0.706548 0.40295894982247 0 0.000901823421065546 FALSE 2.03103e-05 ENSE00000921242_014 ENSE00000921242 014 11 47316999 47317168 + 48 84 38 C T 47317073 1178 75 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGTGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295521 47295522 47295522 exon 27 0.321428571428571 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGTGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant 11 14 0.85 0.85 0.85 NA NA NA NA NA 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 0.00493162913715517 0.0547192144412262 NA NA 0.820174578210809 0.885343747469947 0.0298254217891907 NA NA NA FALSE 0.437 -0.306 . synonymous_variant LOW MADD HGNC 6766 ENST00000395336 23/35 1 NA GCG C,T 6.589e-05 11:47295522 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 synonymous_variant 1.806807 0.97099 0.24245 0.706548 0.463629547417722 0 0.000901823421065546 FALSE 6.09281e-05 ENSE00000921242_023 ENSE00000921242 023 11 47316999 47317168 + 48 84 38 G A 47317096 1187 98 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCACAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295544 47295545 47295545 exon -35 0.595238095238095 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCACAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant 77 48 0.85 0.85 0.85 NA NA NA NA NA 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 0.00493162913715506 0.0547192144412262 NA NA 0.820174578210809 0.885343747469947 0.0298254217891906 NA NA NA FALSE 1 9.322 . missense_variant MODERATE MADD HGNC 6766 ENST00000395336 23/35 rs549453435 1 tolerated_low_confidence(0.06) probably_damaging(0.999) A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 CGC G,A 0.0002965 11:47295545 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 missense_variant 6.519695 0.99406 0.99545 0.706548 0.999404167735919 0 0.000901823421065546 FALSE 0.000251869 ENSE00000921242_024 ENSE00000921242 024 11 47316999 47317168 + 48 84 38 C G 47317107 1188 109 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTGAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295555 47295556 47295556 exon -24 0.726190476190476 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTGAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant 22 17 0.85 0.997292215818604 0.923646107909302 NA NA NA NA NA 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 0.00493162913715517 0.202011430259831 NA NA 0.820174578210809 0.885343747469947 0.103471529698493 NA NA NA FALSE 1 7.37 NA NA NA MADD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:47295556 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 missense_variant 3.364412 0.99421 0.99443 0.706548 0.983624748352406 0 0.000901823421065546 FALSE 4.06213e-06 ENSE00000921242_026 ENSE00000921242 026 11 47316999 47317168 + 48 84 38 C T 47317126 1190 128 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCATCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295574 47295575 47295575 exon -5 0.952380952380952 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCATCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant 76 129 0.85 0.85 0.85 NA NA NA NA NA 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 0.00493162913715517 0.0547192144412263 NA NA 0.820174578210809 0.885343747469947 0.0298254217891907 NA NA NA FALSE 1 7.373 . missense_variant MODERATE MADD HGNC 6766 ENST00000395336 23/35 1 deleterious(0.02) probably_damaging(0.999) NA ACC C,T 8.236e-06 11:47295575 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 missense_variant 5.696075 0.9939 0.99716 0.706548 0.998959460771827 0 0.000901823421065546 FALSE 4.06243e-06 ENSE00000921242_027 ENSE00000921242 027 11 47316999 47317168 + 48 84 38 C T 47317127 1191 129 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACTGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295575 47295576 47295576 exon -4 0.964285714285714 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACTGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant NA NA NA NA NA 332 628 0.793602003644405 0.800804805590139 0.797203404617272 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 NA NA -0.107489958308986 -0.0687907273963628 0.820174578210809 0.885343747469947 NA -0.0881403428526744 NA FALSE NA 1 1.271 rs150985573 synonymous_variant LOW MADD HGNC 6766 ENST00000395336 23/35 rs150985573 1 NA T:0.0002 T:0 CCG C,T 3.295e-05 11:47295576 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 splice_region_variant 2.205963 0.97039 0.89671 0.706548 0.829870487199623 0 0.000901823421065546 FALSE 4.46897e-05 ENSE00000921242_030 ENSE00000921242 030 11 47316999 47317168 + 48 84 38 A G 47317138 1194 140 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGGACACCACACTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295586 47295587 47295587 downstr_intron 8 1.21621621621622 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGGACACCACACTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant 24 13 0.85 0.85 0.85 NA NA NA NA NA 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 0.00493162913715517 0.0547192144412261 NA NA 0.820174578210809 0.885343747469947 0.0298254217891906 NA NA NA FALSE 1 1.734 . splice_region_variant&intron_variant LOW MADD HGNC 6766 ENST00000395336 23/34 1 NA GAA A,G 8.236e-06 11:47295587 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 splice_region_variant 1.871203 0.98482 0.96736 0.099367 0.90615036743867 0.357111 0.000901823421065546 FALSE 8.12645e-06 ENSE00000921242_031 ENSE00000921242 031 11 47316999 47317168 + 48 84 38 A G 47317146 1195 148 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACGCTGGCATCTTGGTGGGTGGGGT 47295447 47295617 47295594 47295595 47295595 downstr_intron 16 1.43243243243243 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACGCTGGCATCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant NA NA NA NA NA 864 673 0.962600534666816 0.800375664948032 0.881488099807424 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 NA NA 0.0615085727134245 -0.0692198680384696 0.820174578210809 0.885343747469947 NA -0.00385564766252255 NA FALSE NA 1 1.991 . intron_variant MODIFIER MADD HGNC 6766 ENST00000395336 23/34 1 NA CAC A,G 8.236e-06 11:47295595 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 intron_variant 2.521872 0.97446 0.92641 0.156188 0.739543350636129 0.538618 0.000901823421065546 FALSE 4.06382e-06 ENSE00000921242_033 ENSE00000921242 033 11 47316999 47317168 + 48 84 38 A G 47317152 1197 154 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCGTCTTGGTGGGTGGGGT 47295447 47295617 47295600 47295601 47295601 downstr_intron 22 1.59459459459459 TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCGTCTTGGTGGGTGGGGT TGAGAGGAGATTGGACACCTCCCCTAATGTTCCTGTGTCTTGTTTCAGAGGACTGATCAAGACTCTGTCATCGGCGTGAGTCCAGCTGTTATGATCCGCAGCTCAAGTCAGGATTCTGAAGTTAGCACCGTGGTAGGGGAACACCACACTGGCATCTTGGTGGGTGGGGT mutant 25 43 0.85 0.85 0.85 NA NA NA NA NA 0.845068370862845 0.795280785558774 0.901091961953391 0.869595532986502 0.00493162913715517 0.0547192144412262 NA NA 0.820174578210809 0.885343747469947 0.0298254217891907 NA NA NA FALSE 1 1.294 . intron_variant MODIFIER MADD HGNC 6766 ENST00000395336 23/34 1 NA CAT A,G 8.236e-06 11:47295601 MADD HGNC Symbol protein_coding 60870 ENSG00000110514 ENSE00000921242 intron_variant 2.488916 0.96698 0.90239 0.156188 0.690057575815694 0.357111 0.000901823421065546 FALSE 4.06488e-06 ENSE00000921723_000 ENSE00000921723 000 2 149526675 149526844 + 45 90 35 NA NA NA NA NA TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA 148769105 148769275 NA NA NA NA NA NA TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA natural NA NA NA NA NA 740 620 0.992360600948402 0.996165602960415 0.994263101954408 NA NA 0.992360600948402 0.996165602960415 NA NA 0 0 NA 0.994263101954408 NA 0 NA FALSE NA NA NA NA NA NA EPC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPC2 NA NA NA ENSG00000135999 ENSE00000921723 NA NA NA NA NA NA NA 0.999952360459163 TRUE NA ENSE00000921723_005 ENSE00000921723 005 2 149526675 149526844 + 45 90 35 T C 149526715 2849 41 TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGCCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA 148769105 148769275 148769145 148769146 148769146 upstr_intron -5 -0.0888888888888889 TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGCCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA mutant NA NA NA NA NA 289 26 1 1 1 NA NA 0.992360600948402 0.996165602960415 NA NA 0.00763939905159805 0.00383439703958532 NA 0.994263101954408 NA 0.00573689804559169 NA FALSE NA 0 0.319 . splice_region_variant&intron_variant LOW EPC2 HGNC 24543 ENST00000258484 7/13 1 NA GTC T 8.277e-06 2:148769146 EPC2 HGNC Symbol protein_coding 143128 ENSG00000135999 ENSE00000921723 splice_region_variant 0.984414 0.23752 0.13602 0.163922 0.69488953340581 0.441698 0.999952360459163 TRUE NA ENSE00000921723_006 ENSE00000921723 006 2 149526675 149526844 + 45 90 35 A G 149526722 2850 48 TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTGTTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA 148769105 148769275 148769152 148769153 148769153 exon 3 0.0333333333333333 TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTGTTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA mutant NA NA NA NA NA 158 56 1 1 1 NA NA 0.992360600948402 0.996165602960415 NA NA 0.00763939905159805 0.00383439703958532 NA 0.994263101954408 NA 0.00573689804559169 NA FALSE NA 1 1.656 . splice_region_variant&synonymous_variant LOW EPC2 HGNC 24543 ENST00000258484 8/14 1 NA TAT A 8.277e-06 2:148769153 EPC2 HGNC Symbol protein_coding 143128 ENSG00000135999 ENSE00000921723 splice_region_variant 1.501611 0.97985 0.94591 0.732398 0.867827977506318 0 0.999952360459163 TRUE 8.24545e-06 ENSE00000921723_021 ENSE00000921723 021 2 149526675 149526844 + 45 90 35 G C 149526828 2865 154 TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTCTGTGGTGTTTTTGTGA 148769105 148769275 148769258 148769259 148769259 downstr_intron 19 1.55882352941176 TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTCTGTGGTGTTTTTGTGA TATTGACTTTTGATAACTTCTAAATGGAATGCCTCTTTTGTCTAGGTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCTGTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGA mutant NA NA NA NA NA 106 141 0.980199401535655 1 0.990099700767828 NA NA 0.992360600948402 0.996165602960415 NA NA -0.0121611994127468 0.00383439703958532 NA 0.994263101954408 NA -0.00416340118658076 NA FALSE NA 0.033 -1.487 . intron_variant MODIFIER EPC2 HGNC 24543 ENST00000258484 8/13 1 NA TGT G 8.282e-06 2:148769259 EPC2 HGNC Symbol protein_coding 143128 ENSG00000135999 ENSE00000921723 intron_variant -0.572684 0.42116 0.29995 0.099367 0.58999620286357 0.291737 0.999952360459163 TRUE NA ENSE00000922632_000 ENSE00000922632 000 12 94620878 94621047 + 47 87 36 NA NA NA NA NA GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 NA NA NA NA NA NA TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC natural 32 41 0.99851386927027 0.992641210797116 0.995577540033693 2239 2588 0.861583446241348 0.856446944215478 0.859015195228413 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 0 0 0 0 0.995577540033693 0.859015195228413 0 0 0 FALSE FALSE NA NA NA NA NA PLXNC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLXNC1 NA NA NA ENSG00000136040 ENSE00000922632 NA NA NA NA NA NA NA 0.999714839774068 TRUE NA ENSE00000922632_001 ENSE00000922632 001 12 94620878 94621047 + 47 87 36 T C 94620901 2574 24 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAGCATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227124 94227125 94227125 upstr_intron -24 -0.48936170212766 TGAATTTACCACCCATCTGGATGCTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 61 1041 1 0.993116357250397 0.996558178625199 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.138416553758652 0.136669413034919 0.995577540033693 0.859015195228413 NA 0.137542983396785 NA FALSE NA 0.197 -0.033 . intron_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 1/1 rs377758876 1 NA C:0 C:0.0001 GTT T,C 8.236e-06 12:94227125 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 intron_variant 0.182624 0.57046 0.31805 0.120541 0.764925588322926 0.0931452 0.999714839774068 TRUE NA ENSE00000922632_002 ENSE00000922632 002 12 94620878 94621047 + 47 87 36 G A 94620911 2575 34 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAATATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227134 94227135 94227135 upstr_intron -14 -0.276595744680851 TGAATTTACCACCCATCTGGATGTTGAAGGGATATTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 993 85 0.997901396526361 0.998134801689135 0.998018099107748 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.136317950285012 0.141687857473656 0.995577540033693 0.859015195228413 NA 0.139002903879334 NA FALSE NA 0 -1.244 . intron_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 1/1 1 NA TGT G,A 8.236e-06 12:94227135 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 intron_variant 0.330085 0.1808 0.11826 0.120541 0.626906382609041 0.052593 0.999714839774068 TRUE NA ENSE00000922632_003 ENSE00000922632 003 12 94620878 94621047 + 47 87 36 C T 94620916 2576 39 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGAAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227139 94227140 94227140 upstr_intron -9 -0.170212765957447 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTTCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 106 1333 1 0.997349885574514 0.998674942787257 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.138416553758652 0.140902941359036 0.995577540033693 0.859015195228413 NA 0.139659747558844 NA FALSE NA 0.013 0.149 . intron_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 1/1 1 NA TCC C,T 8.236e-06 12:94227140 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 intron_variant 0.95608 0.65717 0.06052 0.120541 0.836002964682303 0.139158 0.999714839774068 TRUE 4.06709e-06 ENSE00000922632_004 ENSE00000922632 004 12 94620878 94621047 + 47 87 36 T C 94620920 2577 43 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGGATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227143 94227144 94227144 upstr_intron -5 -0.0851063829787234 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATCCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 81 1916 0.940125017925623 0.976001896396379 0.958063457161001 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.0785415716842744 0.119554952180901 0.995577540033693 0.859015195228413 NA 0.0990482619325876 NA FALSE NA 0.993 3.527 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PLXNC1 HGNC 9106 ENST00000546659 1/1 1 NA TTC T,C 8.236e-06 12:94227144 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 splice_region_variant 1.046207 0.9318 0.92762 0.120541 0.848271035764529 0.94076 0.999714839774068 TRUE 4.06441e-06 ENSE00000922632_005 ENSE00000922632 005 12 94620878 94621047 + 47 87 36 G A 94620939 2578 62 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCTACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227162 94227163 94227163 exon 15 0.172413793103448 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTAGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 268 410 1 1 1 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.138416553758652 0.143553055784522 0.995577540033693 0.859015195228413 NA 0.140984804771587 NA FALSE NA 0 -0.855 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 rs562446087 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGG G,A 8.236e-06 12:94227163 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 synonymous_variant 0.156262 0.21774 0.08149 0.50284 0.676353987104579 0 0.999714839774068 TRUE 4.06154e-06 ENSE00000922632_006 ENSE00000922632 006 12 94620878 94621047 + 47 87 36 G A 94620959 2579 82 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTTCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227182 94227183 94227183 exon 35 0.402298850574713 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGAAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 1124 839 0.99933908951318 0.96416757830468 0.98175333390893 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.137755643271832 0.107720634089202 0.995577540033693 0.859015195228413 NA 0.122738138680517 NA FALSE NA 0.999 1.775 rs143304608 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 rs143304608&COSM695381 1 NA A:0 A:0.0001 GGA G,A 0.0001565 12:94227183 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 missense_variant 3.785767 0.67476 0.79903 0.660377 0.970088324512157 0 0.999714839774068 TRUE 0.000158392 ENSE00000922632_007 ENSE00000922632 007 12 94620878 94621047 + 47 87 36 G A 94620964 2580 87 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCTTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227187 94227188 94227188 exon 40 0.459770114942529 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAAGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 211 426 0.996636385550893 0.98907824122877 0.992857313389831 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.135052939309544 0.132631297013292 0.995577540033693 0.859015195228413 NA 0.133842118161418 NA FALSE NA 1 1.999 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 rs370915925 1 NA A:0 A:0.0001 AGG G,A 8.236e-06 12:94227188 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 missense_variant 2.076274 0.85353 0.833 0.660377 0.97801649356324 0 0.999714839774068 TRUE 4.06141e-06 ENSE00000922632_008 ENSE00000922632 008 12 94620878 94621047 + 47 87 36 G C 94620968 2581 91 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTGTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227191 94227192 94227192 exon -44 0.505747126436782 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAACACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 348 1249 0.995120221320593 0.999816971808719 0.997468596564656 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.133536775079245 0.14337002759324 0.995577540033693 0.859015195228413 NA 0.138453401336243 NA FALSE NA 0.006 -0.039 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 rs200182396 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0002 AGA G,C 4.118e-05 12:94227192 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 missense_variant -0.307551 0.22824 0.27736 0.660377 0.836368409875931 0 0.999714839774068 TRUE 4.46722e-05 ENSE00000922632_009 ENSE00000922632 009 12 94620878 94621047 + 47 87 36 A G 94620973 2582 96 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTCGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227196 94227197 94227197 exon -39 0.563218390804598 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCGAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 2241 482 0.998337452556362 0.999671742191384 0.999004597373873 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.136754006315013 0.143224797975906 0.995577540033693 0.859015195228413 NA 0.139989402145459 NA FALSE NA 0 0.156 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 1 NA CAA A,G 4.118e-05 12:94227197 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 missense_variant -0.855469 0.17966 0.12053 0.714207 0.486129054738329 0 0.999714839774068 TRUE 3.24876e-05 ENSE00000922632_011 ENSE00000922632 011 12 94620878 94621047 + 47 87 36 A C 94620982 2584 105 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTGGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227205 94227206 94227206 exon -30 0.666666666666667 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACCAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 206 188 0.970670717897934 0.918269341994775 0.944470029946354 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.109087271656585 0.0618223977792969 0.995577540033693 0.859015195228413 NA 0.0854548347179412 NA FALSE NA 0 0.137 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 1 NA CAA A,C 4.118e-05 12:94227206 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 missense_variant -1.024954 0.27286 0.25319 0.714207 0.593696295571196 0 0.999714839774068 TRUE 3.24884e-05 ENSE00000922632_012 ENSE00000922632 012 12 94620878 94621047 + 47 87 36 C T 94620990 2585 113 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTATTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227213 94227214 94227214 exon -22 0.758620689655172 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAATAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 252 321 0.999836578710613 1 0.999918289355306 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.138253132469264 0.143553055784522 0.995577540033693 0.859015195228413 NA 0.140903094126893 NA FALSE NA 0.025 0.45 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 1 NA ACA C,T 1.647e-05 12:94227214 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 synonymous_variant 0.314684 0.26598 0.24768 0.714207 0.674563287661227 0 0.999714839774068 TRUE 1.21836e-05 ENSE00000922632_013 ENSE00000922632 013 12 94620878 94621047 + 47 87 36 A G 94620991 2586 114 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCCGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227214 94227215 94227215 exon -21 0.770114942528736 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACGGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant 13 11 0.999327577040736 1 0.999663788520368 1306 595 0.99195623562064 1 0.99597811781032 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 0.000813707770466632 0.00735878920288435 0.130372789379292 0.143553055784522 0.995577540033693 0.859015195228413 0.00408624848667549 0.136962922581907 0.132876674095231 FALSE FALSE 0.053 0.684 rs147547777 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 rs147547777 1 NA G:0.0005 G:0 CAG A,G 1.647e-05 12:94227215 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 missense_variant 0.519266 0.27768 0.26826 0.714207 0.949910201196608 0 0.999714839774068 TRUE 1.21839e-05 ENSE00000922632_014 ENSE00000922632 014 12 94620878 94621047 + 47 87 36 C T 94620995 2587 118 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGATTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227218 94227219 94227219 exon -17 0.816091954022989 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAATCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 1041 1016 0.99803791422986 1 0.99901895711493 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.136454467988512 0.143553055784522 0.995577540033693 0.859015195228413 NA 0.140003761886517 NA FALSE NA 0.054 0.769 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 1 NA ACC C,T 8.236e-06 12:94227219 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 missense_variant 1.234697 0.27206 0.23234 0.714207 0.890599884159746 0 0.999714839774068 TRUE 4.06128e-06 ENSE00000922632_015 ENSE00000922632 015 12 94620878 94621047 + 47 87 36 C A 94620996 2588 119 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTTGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227219 94227220 94227220 exon -16 0.827586206896552 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACAAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant 23 29 0.938671876020474 0.896331542073229 0.917501709046852 NA NA NA NA NA 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 -0.0598419932497953 -0.0963096687238862 NA NA 0.995577540033693 0.859015195228413 -0.0780758309868408 NA NA NA FALSE 0.001 -0.287 rs140245985 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 1 NA CCA C,A 3.295e-05 12:94227220 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 synonymous_variant 1.133292 0.22235 0.1224 0.714207 0.674321525881832 0 0.999714839774068 TRUE 2.84294e-05 ENSE00000922632_017 ENSE00000922632 017 12 94620878 94621047 + 47 87 36 C G 94621000 2590 123 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTCGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227223 94227224 94227224 exon -12 0.873563218390805 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACGAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 175 209 0.969461942496191 1 0.984730971248095 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.107878496254842 0.143553055784522 0.995577540033693 0.859015195228413 NA 0.125715776019682 NA FALSE NA 0 0.178 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 1 NA CCA C,G 3.295e-05 12:94227224 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 missense_variant -0.799869 0.22897 0.27448 0.714207 0.703484643610732 0 0.999714839774068 TRUE 1.62458e-05 ENSE00000922632_019 ENSE00000922632 019 12 94620878 94621047 + 47 87 36 C A 94621014 2592 137 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTTACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227237 94227238 94227238 downstr_intron 3 1.08571428571429 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTAAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 2104 771 0.978708114373989 0.999794819052022 0.989251466713005 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.11712466813264 0.143347874836544 0.995577540033693 0.859015195228413 NA 0.130236271484592 NA FALSE NA 0.844 0.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:94227238 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 splice_region_variant 0.999736 0.89882 0.84437 0.235255 0.731456518942428 0.358315 0.999714839774068 TRUE NA ENSE00000922632_020 ENSE00000922632 020 12 94620878 94621047 + 47 87 36 C T 94621014 2593 137 GGTTTTCCCCTCAACCACACAAAAATAGGGTCTAACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227237 94227238 94227238 downstr_intron 3 1.08571428571429 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTTAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 495 578 0.995767461188275 0.999934130825155 0.997850796006715 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.134184014946927 0.143487186609677 0.995577540033693 0.859015195228413 NA 0.138835600778302 NA FALSE NA 0.844 0.77 NA NA NA PLXNC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLXNC1 NA NA NA ENSG00000136040 ENSE00000922632 splice_region_variant 0.967835 0.89892 0.83353 0.235255 0.681984870492028 0.358315 0.999714839774068 TRUE 8.12684e-06 ENSE00000922632_021 ENSE00000922632 021 12 94620878 94621047 + 47 87 36 C A 94621018 2594 141 GGTTTTCCCCTCAACCACACAAAAATAGGTTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227241 94227242 94227242 downstr_intron 7 1.2 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGAACCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 996 125 0.970405036315048 0.998732665935613 0.984568851125331 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.108821590073699 0.142285721720135 0.995577540033693 0.859015195228413 NA 0.125553655896917 NA FALSE NA 0 -0.017 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 rs367888609 1 NA G:0 G:0.0001 ACC C,A 8.236e-06 12:94227242 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 splice_region_variant 0.618608 0.27718 0.20001 0.235255 0.63446680987325 0.141841 0.999714839774068 TRUE NA ENSE00000922632_022 ENSE00000922632 022 12 94620878 94621047 + 47 87 36 C T 94621019 2595 142 GGTTTTCCCCTCAACCACACAAAAATAGAGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227242 94227243 94227243 downstr_intron 8 1.22857142857143 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACTCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 896 2299 0.993797748436343 0.994218632079018 0.994008190257681 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.132214302194995 0.13777168786354 0.995577540033693 0.859015195228413 NA 0.134992995029267 NA FALSE NA 0 0.159 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 rs370570882 1 NA T:0 T:0.0001 CCC C,T 1.647e-05 12:94227243 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 splice_region_variant 0.280539 0.23385 0.17348 0.235255 0.641556811504397 0.141841 0.999714839774068 TRUE 2.03386e-05 ENSE00000922632_023 ENSE00000922632 023 12 94620878 94621047 + 47 87 36 C G 94621020 2596 143 GGTTTTCCCCTCAACCACACAAAAATACGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227243 94227244 94227244 downstr_intron 9 1.25714285714286 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCGTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 986 2619 0.999078133947564 0.998976295347257 0.999027214647411 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.137494687706216 0.142529351131779 0.995577540033693 0.859015195228413 NA 0.140012019418997 NA FALSE NA 0 0.708 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 1 NA CCT C,G 5.765e-05 12:94227244 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 non_coding_transcript_exon_variant 0.241557 0.27151 0.24906 0.235255 0.581589441799463 0.141841 0.999714839774068 TRUE 2.84812e-05 ENSE00000922632_024 ENSE00000922632 024 12 94620878 94621047 + 47 87 36 G A 94621028 2597 151 GGTTTTCCCCTCAACCACATAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227251 94227252 94227252 downstr_intron 17 1.48571428571429 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTATGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 425 1525 0.998342136638631 0.991336089875002 0.994839113256817 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.136758690397283 0.134889145659524 0.995577540033693 0.859015195228413 NA 0.135823918028403 NA FALSE NA 0 -0.039 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLXNC1 HGNC 9106 ENST00000546659 2/2 rs374133802 1 NA A:0 A:0.0001 TGT G,A 1.647e-05 12:94227252 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 non_coding_transcript_exon_variant 0.02971 0.18526 0.1656 0.235255 0.525903158412276 0.0608491 0.999714839774068 TRUE 8.14817e-06 ENSE00000922632_026 ENSE00000922632 026 12 94620878 94621047 + 47 87 36 G A 94621036 2599 159 GGTTTTCCCCTTAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227259 94227260 94227260 downstr_intron 25 1.71428571428571 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTAAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 279 246 0.999852403709931 0.989358044415014 0.994605224062473 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.138268957468582 0.132911100199536 0.995577540033693 0.859015195228413 NA 0.135590028834059 NA FALSE NA 0 -2.812 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:94227260 PLXNC1 HGNC Symbol protein_coding 158952 ENSG00000136040 ENSE00000922632 non_coding_transcript_exon_variant -0.190948 0.10655 0.01344 0.235255 0.201737745111606 0.0781219 0.999714839774068 TRUE 1.63393e-05 ENSE00000922632_027 ENSE00000922632 027 12 94620878 94621047 + 47 87 36 G C 94621036 2600 159 GGTTTTCCCCTGAACCACACAAAAATAGGGTCTGACCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCCTGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 94227259 94227260 94227260 downstr_intron 25 1.71428571428571 TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTCAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC mutant NA NA NA NA NA 888 422 0.999209478541438 0.999625047312114 0.999417262926776 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 NA NA 0.13762603230009 0.143178103096636 0.995577540033693 0.859015195228413 NA 0.140402067698363 NA FALSE NA 0 -2.812 NA NA NA PLXNC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLXNC1 NA NA NA ENSG00000136040 ENSE00000922632 non_coding_transcript_exon_variant -0.46936 0.12549 0.05855 0.235255 0.405019881395012 0.0781219 0.999714839774068 TRUE 1.63393e-05 ENSE00000922632_BRK ENSE00000922632 BRK 12 94620878 94621047 + 47 87 36 A,G; T,T NA NA NA GGTTTTCCCCTCAACCACACAAAAATAGGGTCTGGGCTGTAAAGCCTGGTTGGTTCTGTTCCCCTTGTTCTCCTTGGGTCTTCCTCCTCCTGATGTCTTCTCGACAGCCACTGGACACTGTTCAAGGAATGGAGAACATCCCTTCAACATCCAGATGGGTGGTAAATTCA 94227101 94227271 NA NA NA NA NA NA TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCTTGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGCCCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC TGAATTTACCACCCATCTGGATGTTGAAGGGATGTTCTCCATTCCAGGAACAGTGTCCAGTGGCTGTCGAGAAGACATCAGGAGGAGGAAGACCCAAGGAGAACAAGGGGAACAGAACCAACCAGGCTTTACAGGTCAGACCCTATTTTTGTGTGGTTGAGGGGAAAACC control 42 65 0 0 0 146 236 0 0 0 0.99851386927027 0.992641210797116 0.861583446241348 0.856446944215478 -0.99851386927027 -0.992641210797116 -0.861583446241348 -0.856446944215478 0.995577540033693 0.859015195228413 -0.995577540033693 -0.859015195228413 0.136562344805279 TRUE TRUE NA NA NA NA NA PLXNC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLXNC1 NA NA NA ENSG00000136040 ENSE00000922632 NA NA NA NA NA NA NA 0.999714839774068 TRUE NA ENSE00000923145_000 ENSE00000923145 000 3 37774156 37774325 + 47 87 36 NA NA NA NA NA CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 NA NA NA NA NA NA CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG natural NA NA NA NA NA 1711 998 0.989219523315213 0.999541086954578 0.994380305134896 NA NA 0.989219523315213 0.999541086954578 NA NA 0 0 NA 0.994380305134896 NA 0 NA FALSE NA NA NA NA NA NA ITGA9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGA9 NA NA NA ENSG00000144668 ENSE00000923145 NA NA NA NA NA NA NA 0.0961917478256693 FALSE NA ENSE00000923145_001 ENSE00000923145 001 3 37774156 37774325 + 47 87 36 C T 37774173 490 18 CCTGCCTTTTGTGCAGCTGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732681 37732682 37732682 upstr_intron -30 -0.617021276595745 CCTGCCTTTTGTGCAGCTGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 194 62 1 1 1 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 0.000458913045422005 NA 0.994380305134896 NA 0.00561969486510433 NA FALSE NA 0 0.747 rs981952 intron_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 1/1 rs981952 1 T:0.0809 T:0.2821 T:0.0331 NA T:0 T:0.006 T:0.0031 T:0.2208 T:0.0059 CCG C,T 0.023 3:37732682 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 intron_variant -0.035623 0.23808 0.00903 0.06567 0.611276448850355 0.144954 0.0961917478256693 FALSE 0.0198437 ENSE00000923145_002 ENSE00000923145 002 3 37774156 37774325 + 47 87 36 G A 37774174 491 19 CCTGCCTTTTGTGCAGCCAGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732682 37732683 37732683 upstr_intron -29 -0.595744680851064 CCTGCCTTTTGTGCAGCCAGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 239 272 1 1 1 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 0.000458913045422005 NA 0.994380305134896 NA 0.00561969486510433 NA FALSE NA 0 -1.754 . intron_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 1/1 rs201533784 1 A:0.0016 A:0.0061 A:0 NA A:0 A:0 A:0 A:0.0075 A:0.0001 CGG G,A 0.0005872 3:37732683 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 intron_variant -0.213273 0.12097 0.00757 0.06567 0.679419734701596 0.144954 0.0961917478256693 FALSE 0.000509561 ENSE00000923145_003 ENSE00000923145 003 3 37774156 37774325 + 47 87 36 C T 37774196 492 41 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTTTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732704 37732705 37732705 upstr_intron -7 -0.127659574468085 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTTTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 23 437 0.998196856996182 0.998239025731832 0.998217941364007 NA NA 0.989219523315213 0.999541086954578 NA NA 0.00897733368096842 -0.00130206122274568 NA 0.994380305134896 NA 0.00383763622911137 NA FALSE NA 1 0.885 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ITGA9 HGNC 6145 ENST00000461533 1/1 1 NA TCT C,T 1.649e-05 3:37732705 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 splice_region_variant 1.943685 0.96986 0.62151 0.06567 0.875346535161165 0.305641 0.0961917478256693 FALSE 8.74256e-06 ENSE00000923145_005 ENSE00000923145 005 3 37774156 37774325 + 47 87 36 C G 37774227 494 72 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGGTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732735 37732736 37732736 exon 25 0.28735632183908 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGGTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 33 121 0.8 1 0.9 NA NA 0.989219523315213 0.999541086954578 NA NA -0.189219523315213 0.000458913045422005 NA 0.994380305134896 NA -0.0943803051348956 NA FALSE NA 0.999 1.488 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 1 NA GCT C,G 1.648e-05 3:37732736 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 missense_variant 1.191946 0.97416 0.81538 0.615465 0.950674625024259 0 0.0961917478256693 FALSE 1.25719e-05 ENSE00000923145_006 ENSE00000923145 006 3 37774156 37774325 + 47 87 36 G C 37774229 495 74 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTCCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732737 37732738 37732738 exon 27 0.310344827586207 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTCCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 126 97 1 0.923299430014466 0.961649715007233 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 -0.076241656940112 NA 0.994380305134896 NA -0.0327305901276627 NA FALSE NA 0.991 0.547 rs143192797 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 rs143192797 1 C:0.0016 C:0 C:0.0086 NA C:0 C:0.002 C:0 C:0.0007 C:0.0058 TGC G,C 0.002596 3:37732738 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 synonymous_variant 0.614361 0.96543 0.73752 0.615465 0.676447420467186 0 0.0961917478256693 FALSE 0.00295175 ENSE00000923145_008 ENSE00000923145 008 3 37774156 37774325 + 47 87 36 C T 37774237 497 82 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATTGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732745 37732746 37732746 exon 35 0.402298850574713 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATTGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 22 232 1 1 1 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 0.000458913045422005 NA 0.994380305134896 NA 0.00561969486510433 NA FALSE NA 0.919 1.993 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 1 NA TCG C,T 1.648e-05 3:37732746 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 missense_variant 2.699495 0.59245 0.48143 0.615465 0.988393188666265 0 0.0961917478256693 FALSE NA ENSE00000923145_009 ENSE00000923145 009 3 37774156 37774325 + 47 87 36 G C 37774255 498 100 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCACCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732763 37732764 37732764 exon -35 0.609195402298851 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCACCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 116 231 1 1 1 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 0.000458913045422005 NA 0.994380305134896 NA 0.00561969486510433 NA FALSE NA 1 8.732 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 1 NA AGC G,C 8.24e-06 3:37732764 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 missense_variant 4.548105 0.9934 0.98289 0.615465 0.99494923471741 0 0.0961917478256693 FALSE NA ENSE00000923145_010 ENSE00000923145 010 3 37774156 37774325 + 47 87 36 G A 37774261 499 106 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGAATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732769 37732770 37732770 exon -29 0.67816091954023 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGAATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 29 31 1 1 1 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 0.000458913045422005 NA 0.994380305134896 NA 0.00561969486510433 NA FALSE NA 1 6.86 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 COSM3915878 1 NA GGA G,A 8.24e-06 3:37732770 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 missense_variant 4.788788 0.99312 0.9684 0.554377 0.994655380042593 0 0.0961917478256693 FALSE NA ENSE00000923145_011 ENSE00000923145 011 3 37774156 37774325 + 47 87 36 A G 37774272 500 117 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCGTGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732780 37732781 37732781 exon -18 0.804597701149425 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCGTGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 764 342 0.999946122011935 0.999537285386613 0.999741703699274 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107265986967218 -3.80156796475628e-06 NA 0.994380305134896 NA 0.00536139856437851 NA FALSE NA 1 8.263 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 1 NA CAT A,G 8.242e-06 3:37732781 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 missense_variant 1.258889 0.99106 0.97534 0.615465 0.917893337977997 0 0.0961917478256693 FALSE 8.38891e-06 ENSE00000923145_014 ENSE00000923145 014 3 37774156 37774325 + 47 87 36 C T 37774298 503 143 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGATACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732806 37732807 37732807 downstr_intron 9 1.25714285714286 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGATACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 163 45 0.996410820737449 1 0.998205410368725 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0071912974222359 0.000458913045422005 NA 0.994380305134896 NA 0.00382510523382895 NA FALSE NA 0.141 0.636 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 1 NA ACA C,T 8.255e-06 3:37732807 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 non_coding_transcript_exon_variant 1.717645 0.86761 0.28592 0.053691 0.762607979681921 0.310979 0.0961917478256693 FALSE NA ENSE00000923145_016 ENSE00000923145 016 3 37774156 37774325 + 47 87 36 G C 37774302 505 147 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACACACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732810 37732811 37732811 downstr_intron 13 1.37142857142857 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACACACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 180 15 1 1 1 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 0.000458913045422005 NA 0.994380305134896 NA 0.00561969486510433 NA FALSE NA 0 -0.221 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 1 NA AGA G,C 1.652e-05 3:37732811 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 non_coding_transcript_exon_variant -0.18289 0.21891 0.04937 0.053691 0.513704142424237 0.0726654 0.0961917478256693 FALSE 1.32884e-05 ENSE00000923145_017 ENSE00000923145 017 3 37774156 37774325 + 47 87 36 A G 37774303 506 148 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGGCGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732811 37732812 37732812 downstr_intron 14 1.4 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGGCGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 43 296 1 0.995233000647658 0.997616500323829 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 -0.00430808630692026 NA 0.994380305134896 NA 0.0032361951889332 NA FALSE NA 0 1.479 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 1 NA GAC A,G 8.262e-06 3:37732812 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 non_coding_transcript_exon_variant 0.172086 0.18839 0.04128 0.053691 0.489894586518892 0.0726654 0.0961917478256693 FALSE NA ENSE00000923145_018 ENSE00000923145 018 3 37774156 37774325 + 47 87 36 C T 37774304 507 149 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGATGGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732812 37732813 37732813 downstr_intron 15 1.42857142857143 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGATGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 10 38 1 1 1 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 0.000458913045422005 NA 0.994380305134896 NA 0.00561969486510433 NA FALSE NA 0 -1.244 rs58228096 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 rs58228096 1 T:0.2548 T:0.3707 T:0.1686 NA T:0.1776 T:0.2555 T:0.2382 T:0.3625 T:0.2443 ACG C,T 0.227 3:37732813 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 non_coding_transcript_exon_variant -0.555783 0.08223 0.00479 0.053691 0.522333456813809 0.0726654 0.0961917478256693 FALSE 0.23312 ENSE00000923145_019 ENSE00000923145 019 3 37774156 37774325 + 47 87 36 G A 37774305 508 150 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACAGGACCCTTCCTCAGCAGCAG 37732664 37732834 37732813 37732814 37732814 downstr_intron 16 1.45714285714286 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACAGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 39 403 1 1 1 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 0.000458913045422005 NA 0.994380305134896 NA 0.00561969486510433 NA FALSE NA 0 -1.395 rs147354423 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA9 HGNC 6145 ENST00000461533 2/2 rs147354423 1 A:0.0042 A:0.0121 A:0 NA A:0 A:0.002 A:0.0031 A:0.0039 A:0.0001 CGG G,A 0.001066 3:37732814 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 non_coding_transcript_exon_variant -0.520828 0.06523 0.00676 0.053691 0.46194038414973 0.0726654 0.0961917478256693 FALSE 0.000891661 ENSE00000923145_021 ENSE00000923145 021 3 37774156 37774325 + 47 87 36 G T 37774307 510 152 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGTACCCTTCCTCAGCAGCAG 37732664 37732834 37732815 37732816 37732816 downstr_intron 18 1.51428571428571 CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGTACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG mutant NA NA NA NA NA 350 1496 1 0.993672094622187 0.996836047311094 NA NA 0.989219523315213 0.999541086954578 NA NA 0.0107804766847867 -0.0058689923323908 NA 0.994380305134896 NA 0.00245574217619793 NA FALSE NA 0.021 2.089 NA NA NA ITGA9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:37732816 ITGA9 HGNC Symbol protein_coding 371399 ENSG00000144668 ENSE00000923145 non_coding_transcript_exon_variant -0.037053 0.31769 0.26485 0.053691 0.369558205719711 0.0726654 0.0961917478256693 FALSE 4.57486e-06 ENSE00000923145_BRK ENSE00000923145 BRK 3 37774156 37774325 + 47 87 36 A,G; T,T NA NA NA CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCTTGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGCCAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG 37732664 37732834 NA NA NA NA NA NA CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCTTGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGCCAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG CCTGCCTTTTGTGCAGCCGGCCCATCTGTTGGTGCTTTTTCTTTCAGGAGGAGATGGGCATCTCCTGTGAGCTGCTGGAATCGGACTTCCTCAAATGCAGCGTGGGATTTCCTTTCATGAGGTCAAAGTCAAAGGTAAGGGACACAGACGGGACCCTTCCTCAGCAGCAG control 15 23 0 0 0 NA NA NA NA NA NA NA 0.989219523315213 0.999541086954578 NA NA NA NA NA 0.994380305134896 NA NA NA NA NA NA NA NA NA NA ITGA9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGA9 NA NA NA ENSG00000144668 ENSE00000923145 NA NA NA NA NA NA NA 0.0961917478256693 FALSE NA ENSE00000923841_000 ENSE00000923841 000 7 2956892 2957061 - 32 96 42 NA NA NA NA NA GAAAAATCGGTAGGTGCTCCGGAGAGCCTTACCTGAAGGAGCTGGCCAAAAAGGAAGCTTGCTCGCGAGAGACGGGGGCTGACCCGGGGGTCGCTTGTTGAAAGCGCTTCTTCTGGCTGCAGGGTGTTCTGAAATGAATTTATCAATCAGTCAGGCCCTGCTGGGCTTGG 2917257 2917427 NA NA NA NA NA NA CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC natural 210 64 0.962755021300681 0.997634833872963 0.980194927586822 3560 2537 0.987914214323329 0.995369712955966 0.991641963639648 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 0 0 0 0 0.980194927586822 0.991641963639648 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARD11 NA NA NA ENSG00000198286 ENSE00003567821 NA NA NA NA NA NA NA 0.999939282123249 TRUE NA ENSE00000923841_001 ENSE00000923841 001 7 2956892 2957061 - 32 96 42 G C 2956905 200 157 GAAAAATCGGTAGCTGCTCCGGAGAGCCTTACCTGAAGGAGCTGGCCAAAAAGGAAGCTTGCTCGCGAGAGACGGGGGCTGACCCGGGGGTCGCTTGTTGAAAGCGCTTCTTCTGGCTGCAGGGTGTTCTGAAATGAATTTATCAATCAGTCAGGCCCTGCTGGGCTTGG 2917257 2917427 2917270 2917271 2917271 downstr_intron 19 1.61290322580645 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCAGCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 1609 107 0.925279022959539 0.998519051821347 0.961899037390443 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA -0.0626351913637898 0.00314933886538049 0.980194927586822 0.991641963639648 NA -0.0297429262492047 NA FALSE NA 0.072 1.071 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2917271 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 intron_variant -0.292682 0.30803 0.16992 0.295142 0.506191591199342 0.0482758 0.999939282123249 TRUE 6.41431e-05 ENSE00000923841_002 ENSE00000923841 002 7 2956892 2957061 - 32 96 42 G A 2956905 201 157 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCATCTACCGATTTTTC 2917257 2917427 2917270 2917271 2917271 downstr_intron 19 1.61290322580645 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCATCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 143 528 0.995302443394734 0.966326036879694 0.980814240137214 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.00738822907140468 -0.0290436760762721 0.980194927586822 0.991641963639648 NA -0.0108277235024337 NA FALSE NA 0.072 1.071 NA NA NA CARD11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARD11 NA NA NA ENSG00000198286 ENSE00003567821 intron_variant 0.118632 0.29502 0.06569 0.295142 0.515408235181142 0.0482758 0.999939282123249 TRUE 8.55242e-06 ENSE00000923841_003 ENSE00000923841 003 7 2956892 2957061 - 32 96 42 G T 2956907 202 155 GAAAAATCGGTAGGTTCTCCGGAGAGCCTTACCTGAAGGAGCTGGCCAAAAAGGAAGCTTGCTCGCGAGAGACGGGGGCTGACCCGGGGGTCGCTTGTTGAAAGCGCTTCTTCTGGCTGCAGGGTGTTCTGAAATGAATTTATCAATCAGTCAGGCCCTGCTGGGCTTGG 2917257 2917427 2917272 2917273 2917273 downstr_intron 17 1.54838709677419 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGAACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 75 1194 1 0.995335455685186 0.997667727842593 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.0120857856766711 -3.42572707798805e-05 0.980194927586822 0.991641963639648 NA 0.00602576420294559 NA FALSE NA 0 -1.87 . intron_variant MODIFIER CARD11 HGNC 16393 ENST00000396946 20/24 1 NA TGC G,T 1.65e-05 7:2917273 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 intron_variant -0.582355 0.13798 0.01215 0.295142 0.434395627257812 0.0482758 0.999939282123249 TRUE 8.49343e-06 ENSE00000923841_004 ENSE00000923841 004 7 2956892 2957061 - 32 96 42 C T 2956911 203 151 GAAAAATCGGTAGGTGCTCTGGAGAGCCTTACCTGAAGGAGCTGGCCAAAAAGGAAGCTTGCTCGCGAGAGACGGGGGCTGACCCGGGGGTCGCTTGTTGAAAGCGCTTCTTCTGGCTGCAGGGTGTTCTGAAATGAATTTATCAATCAGTCAGGCCCTGCTGGGCTTGG 2917257 2917427 2917276 2917277 2917277 downstr_intron 13 1.41935483870968 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCAGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 300 2607 0.98430938382648 0.998482094226533 0.991395739026506 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA -0.00360483049684879 0.00311238127056657 0.980194927586822 0.991641963639648 NA -0.000246224613141111 NA FALSE NA 0 -1.441 . intron_variant MODIFIER CARD11 HGNC 16393 ENST00000396946 20/24 rs558286041 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CCG C,T 3.298e-05 7:2917277 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 intron_variant -0.52391 0.10905 0.00264 0.295142 0.606674287119602 0.0482758 0.999939282123249 TRUE 6.75054e-05 ENSE00000923841_005 ENSE00000923841 005 7 2956892 2957061 - 32 96 42 G A 2956912 204 150 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCTGGAGCACCTACCGATTTTTC 2917257 2917427 2917277 2917278 2917278 downstr_intron 12 1.38709677419355 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCTGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 626 306 0.991885085198866 1 0.995942542599433 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.00397087087553749 0.00463028704403368 0.980194927586822 0.991641963639648 NA 0.00430057895978558 NA FALSE NA 0 -0.549 . intron_variant MODIFIER CARD11 HGNC 16393 ENST00000396946 20/24 rs372718712 1 NA A:0.0002 A:0.0001 CGG G,A 1.649e-05 7:2917278 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 intron_variant -0.019601 0.2392 0.0196 0.295142 0.381441021941667 0.0482758 0.999939282123249 TRUE 2.52423e-05 ENSE00000923841_006 ENSE00000923841 006 7 2956892 2957061 - 32 96 42 C A 2956918 205 144 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGTCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917283 2917284 2917284 downstr_intron 6 1.19354838709677 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGTCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 2163 686 0.999140666515601 0.956195145308735 0.977667905912168 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.011226452192272 -0.0391745676472309 0.980194927586822 0.991641963639648 NA -0.0139740577274794 NA FALSE NA 0.006 2.048 rs3735123 splice_region_variant&intron_variant LOW CARD11 HGNC 16393 ENST00000396946 20/24 rs3735123 1 A:0.1655 A:0.2897 A:0.1571 NA A:0.1627 A:0.0288 A:0.1472 A:0.2696 A:0.0211 GCC C,A 0.078 7:2917284 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 splice_region_variant 0.93739 0.44251 0.1241 0.295142 0.495602529197614 0.0558316 0.999939282123249 TRUE 0.0770548 ENSE00000923841_007 ENSE00000923841 007 7 2956892 2957061 - 32 96 42 T C 2956920 206 142 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAGGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917285 2917286 2917286 downstr_intron 4 1.12903225806452 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAGGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 292 218 0.00860566877213663 0.00700226082681115 0.00780396479947389 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA -0.979308545551192 -0.988367452129155 0.980194927586822 0.991641963639648 NA -0.983837998840174 NA TRUE NA 1 3.84 . splice_region_variant&intron_variant LOW CARD11 HGNC 16393 ENST00000396946 20/24 rs201256077 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTT T,C 4.946e-05 7:2917286 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 splice_region_variant 0.563818 0.98846 0.96753 0.295142 0.823085112407845 0.760693 0.999939282123249 TRUE 2.91959e-05 ENSE00000923841_008 ENSE00000923841 008 7 2956892 2957061 - 32 96 42 C A 2956933 207 129 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCATCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917298 2917299 2917299 exon -10 0.90625 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCATCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 406 632 1 0.995729375635267 0.997864687817633 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.0120857856766711 0.000359662679300543 0.980194927586822 0.991641963639648 NA 0.00622272417798581 NA FALSE NA 0.088 -0.646 . missense_variant MODERATE CARD11 HGNC 16393 ENST00000396946 20/25 1 deleterious(0.02) probably_damaging(0.998) NA GCT C,A 8.241e-06 7:2917299 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 missense_variant 4.260275 0.96405 0.34667 0.732398 0.970786314078469 0 0.999939282123249 TRUE 4.15486e-06 ENSE00000923841_010 ENSE00000923841 010 7 2956892 2957061 - 32 96 42 C T 2956957 209 105 GAAAAATCGGTAGGTGCTCCGGAGAGCCTTACCTGAAGGAGCTGGCCAAAAAGGAAGCTTGCTCGTGAGAGACGGGGGCTGACCCGGGGGTCGCTTGTTGAAAGCGCTTCTTCTGGCTGCAGGGTGTTCTGAAATGAATTTATCAATCAGTCAGGCCCTGCTGGGCTTGG 2917257 2917427 2917322 2917323 2917323 exon -34 0.65625 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCACGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 932 794 0.957760714109108 0.999800764147447 0.978780739128278 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA -0.0301535002142207 0.00443105119148091 0.980194927586822 0.991641963639648 NA -0.0128612245113699 NA FALSE NA 0 -1.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2917323 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 synonymous_variant 0.96317 0.0735 0.01685 0.732398 0.601895726117462 0 0.999939282123249 TRUE 0.000211075 ENSE00000923841_011 ENSE00000923841 011 7 2956892 2957061 - 32 96 42 C A 2956957 210 105 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCTCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917322 2917323 2917323 exon -34 0.65625 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCTCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 2903 895 0.97295182386558 0.999744462422888 0.986348143144234 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA -0.0149623904577486 0.00437474946692151 0.980194927586822 0.991641963639648 NA -0.00529382049541355 NA FALSE NA 0 -1.91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARD11 NA NA NA ENSG00000198286 ENSE00003567821 synonymous_variant 1.196395 0.07335 0.01543 0.732398 0.544713171966975 0 0.999939282123249 TRUE 4.13873e-06 ENSE00000923841_012 ENSE00000923841 012 7 2956892 2957061 - 32 96 42 G A 2956968 211 94 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCTCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917333 2917334 2917334 exon -45 0.541666666666667 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCTCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 1125 14 0.983692020166001 0.8 0.891846010083001 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA -0.0042221941573275 -0.195369712955966 0.980194927586822 0.991641963639648 NA -0.0997959535566469 NA FALSE NA 1 8.644 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2917334 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 missense_variant 5.574209 0.99217 0.98599 0.732398 0.995787580229819 0 0.999939282123249 TRUE 4.13298e-06 ENSE00000923841_013 ENSE00000923841 013 7 2956892 2957061 - 32 96 42 G T 2956968 212 94 GAAAAATCGGTAGGTGCTCCGGAGAGCCTTACCTGAAGGAGCTGGCCAAAAAGGAAGCTTGCTCGCGAGAGACGGGTGCTGACCCGGGGGTCGCTTGTTGAAAGCGCTTCTTCTGGCTGCAGGGTGTTCTGAAATGAATTTATCAATCAGTCAGGCCCTGCTGGGCTTGG 2917257 2917427 2917333 2917334 2917334 exon -45 0.541666666666667 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCACCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 898 1500 1 0.992279620964701 0.99613981048235 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.0120857856766711 -0.00309009199126542 0.980194927586822 0.991641963639648 NA 0.00449784684270282 NA FALSE NA 1 8.644 NA NA NA CARD11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARD11 NA NA NA ENSG00000198286 ENSE00003567821 missense_variant 5.305261 0.9924 0.98802 0.732398 0.996214038504747 0 0.999939282123249 TRUE 4.13298e-06 ENSE00000923841_014 ENSE00000923841 014 7 2956892 2957061 - 32 96 42 G C 2956980 213 82 GAAAAATCGGTAGGTGCTCCGGAGAGCCTTACCTGAAGGAGCTGGCCAAAAAGGAAGCTTGCTCGCGAGAGACGGGGGCTGACCCGGGCGTCGCTTGTTGAAAGCGCTTCTTCTGGCTGCAGGGTGTTCTGAAATGAATTTATCAATCAGTCAGGCCCTGCTGGGCTTGG 2917257 2917427 2917345 2917346 2917346 exon 40 0.416666666666667 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACGCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 959 377 0.999656191184211 0.999580266832228 0.99961822900822 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.0117419768608824 0.0042105538762619 0.980194927586822 0.991641963639648 NA 0.00797626536857216 NA FALSE NA 1 4.681 . missense_variant MODERATE CARD11 HGNC 16393 ENST00000396946 20/25 1 tolerated(0.19) benign(0.029) NA GGG G,C 8.239e-06 7:2917346 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 missense_variant 1.256546 0.98703 0.96146 0.732398 0.809145625538153 0 0.999939282123249 TRUE 4.13206e-06 ENSE00000923841_015 ENSE00000923841 015 7 2956892 2957061 - 32 96 42 G A 2956984 214 78 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGTGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917349 2917350 2917350 exon 36 0.375 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGTGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 1424 2254 0.992777867074025 0.997824538117224 0.995301202595625 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.00486365275069633 0.00245482516125806 0.980194927586822 0.991641963639648 NA 0.0036592389559772 NA FALSE NA 0 -1.594 . synonymous_variant LOW CARD11 HGNC 16393 ENST00000396946 20/25 1 NA CGC G,A 2.472e-05 7:2917350 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 synonymous_variant 0.905822 0.14413 0.02185 0.732398 0.553929713166714 0 0.999939282123249 TRUE 4.55147e-05 ENSE00000923841_016 ENSE00000923841 016 7 2956892 2957061 - 32 96 42 T C 2956986 215 76 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAGGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917351 2917352 2917352 exon 34 0.354166666666667 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAGGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 248 859 1 0.8828177799702 0.9414088899851 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.0120857856766711 -0.112551932985767 0.980194927586822 0.991641963639648 NA -0.0502330736545478 NA FALSE NA 0.112 2.811 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2917352 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 missense_variant -0.093519 0.30558 0.16942 0.732398 0.984972517945402 0 0.999939282123249 TRUE 0.000111621 ENSE00000923841_017 ENSE00000923841 017 7 2956892 2957061 - 32 96 42 T A 2956986 216 76 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACATGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917351 2917352 2917352 exon 34 0.354166666666667 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACATGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 841 1321 0.999558761135308 0.950068583642132 0.97481367238872 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.0116445468119794 -0.0453011293138342 0.980194927586822 0.991641963639648 NA -0.0168282912509274 NA FALSE NA 0.112 2.811 NA NA NA CARD11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARD11 NA NA NA ENSG00000198286 ENSE00003567821 missense_variant 1.122085 0.29819 0.14655 0.732398 0.924704063997584 0 0.999939282123249 TRUE 4.13411e-06 ENSE00000923841_019 ENSE00000923841 019 7 2956892 2957061 - 32 96 42 G A 2956997 218 65 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGTGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917362 2917363 2917363 exon 23 0.239583333333333 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGTGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 600 691 0.794389766703101 0.970759477546401 0.882574622124751 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA -0.193524447620228 -0.0246102354095652 0.980194927586822 0.991641963639648 NA -0.109067341514897 NA FALSE NA 0.404 1.655 . missense_variant MODERATE CARD11 HGNC 16393 ENST00000396946 20/25 rs543253971 1 tolerated(0.22) benign(0.001) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 1.648e-05 7:2917363 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 missense_variant -0.134198 0.25338 0.28206 0.732398 0.264964633246336 0 0.999939282123249 TRUE 1.24467e-05 ENSE00000923841_020 ENSE00000923841 020 7 2956892 2957061 - 32 96 42 T C 2957005 219 57 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCGGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917370 2917371 2917371 exon 15 0.15625 CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCGGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 227 821 1 0.998738531974173 0.999369265987086 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.0120857856766711 0.0033688190182064 0.980194927586822 0.991641963639648 NA 0.00772730234743874 NA FALSE NA 0 -3.945 rs3735124 synonymous_variant LOW CARD11 HGNC 16393 ENST00000396946 20/25 rs3735124 1 C:0.4631 C:0.5787 C:0.4207 NA C:0.6101 C:0.2087 C:0.4468 C:0.5318 C:0.2069 CTG C,C 0.304 7:2917371 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 synonymous_variant -0.407879 0.10896 0.02053 0.732398 0.408474649204297 0 0.999939282123249 TRUE 0.305823 ENSE00000923841_023 ENSE00000923841 023 7 2956892 2957061 - 32 96 42 T C 2957042 222 20 CCAAGCCCAGCAGGGCCTGGCTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 2917407 2917408 2917408 upstr_intron -23 -0.523809523809524 CCAAGCCCAGCAGGGCCTGGCTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC mutant NA NA NA NA NA 562 1342 0.993230263172519 0.90274382255427 0.947987042863394 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 NA NA 0.00531604884919001 -0.0926258904016967 0.980194927586822 0.991641963639648 NA -0.0436549207762533 NA FALSE NA 0.989 1.671 . intron_variant MODIFIER CARD11 HGNC 16393 ENST00000396946 19/24 1 NA GTC T,C 8.263e-06 7:2917408 CARD11 HGNC Symbol protein_coding 137804 ENSG00000198286 ENSE00003567821 intron_variant 0.111048 0.16492 0.37644 0.088506 0.70221927283276 0.0491649 0.999939282123249 TRUE NA ENSE00000923841_BRK ENSE00000923841 BRK 7 2956892 2957061 - 32 96 42 A,G; T,T NA NA NA CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCTTAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGCCAAGGCTCTCCGGAGCACCTACCGATTTTTC 2917257 2917427 NA NA NA NA NA NA CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCTTAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGCCAAGGCTCTCCGGAGCACCTACCGATTTTTC CCAAGCCCAGCAGGGCCTGACTGATTGATAAATTCATTTCAGAACACCCTGCAGCCAGAAGAAGCGCTTTCAACAAGCGACCCCCGGGTCAGCCCCCGTCTCTCGCGAGCAAGCTTCCTTTTTGGCCAGCTCCTTCAGGTAAGGCTCTCCGGAGCACCTACCGATTTTTC control 399 268 0.0293674214634491 0 0.0146837107317245 1858 828 0.00654215372871249 0.0037230430818232 0.00513259840526784 0.962755021300681 0.997634833872963 0.987914214323329 0.995369712955966 -0.933387599837232 -0.997634833872963 -0.981372060594616 -0.991646669874143 0.980194927586822 0.991641963639648 -0.965511216855097 -0.98650936523438 0.0209981483792827 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003567821 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00000924227_000 ENSE00000924227 000 7 45103469 45103638 + 48 84 38 NA NA NA NA NA GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 NA NA NA NA NA NA GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG natural 765 1251 0.836994255405056 0.841139278283867 0.839066766844461 2944 6385 0.66625172911044 0.80260127701681 0.734426503063625 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 0 0 0 0 0.839066766844461 0.734426503063625 0 0 0 FALSE FALSE NA NA NA NA NA CCM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCM2 NA NA NA ENSG00000136280 ENSE00003550573 NA NA NA NA NA NA NA 0.483088350953085 FALSE NA ENSE00000924227_001 ENSE00000924227 001 7 45103469 45103638 + 48 84 38 A G 45103481 983 13 GGCTCAGCTCCCGTTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063881 45063882 45063882 upstr_intron -36 -0.729166666666667 GGCTCAGCTCCCGTTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 238 1827 0.844436143763289 0.810601988390046 0.827519066076668 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA 0.17818441465285 0.00800071137323577 0.839066766844461 0.734426503063625 NA 0.0930925630130427 NA FALSE NA 0 -0.386 rs2304689 upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 rs2304689 1 G:0.2200 G:0.2277 G:0.2752 NA G:0.1905 G:0.2078 G:0.2137 G:0.256 G:0.213 CAT A,G 0.228 7:45063882 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 intron_variant 1.315294 0.16043 0.01406 0.295142 0.71539274392896 0.244033 0.483088350953085 FALSE 0.230098 ENSE00000924227_003 ENSE00000924227 003 7 45103469 45103638 + 48 84 38 C G 45103510 985 42 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTGTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063910 45063911 45063911 upstr_intron -7 -0.125 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTGTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 221 3283 0.891662821644657 0.8 0.845831410822328 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA 0.225411092534217 -0.00260127701681012 0.839066766844461 0.734426503063625 NA 0.111404907758704 NA FALSE NA 0.219 0.557 . upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 1 NA TCT C,G 1.647e-05 7:45063911 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 splice_region_variant 1.760709 0.59664 0.31186 0.295142 0.910093557270244 0.312824 0.483088350953085 FALSE 8.12236e-06 ENSE00000924227_004 ENSE00000924227 004 7 45103469 45103638 + 48 84 38 C T 45103514 986 46 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTTAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063914 45063915 45063915 upstr_intron -3 -0.0416666666666667 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTTAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 426 357 0.0549024765860067 0.0695645605910128 0.0622335185885098 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA -0.611349252524433 -0.733036716425797 0.839066766844461 0.734426503063625 NA -0.672192984475115 NA TRUE NA 0.998 3.795 . upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 rs527289661 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCA C,T 8.236e-06 7:45063915 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 splice_region_variant 2.188659 0.98282 0.93679 0.295142 0.949613406585622 0.970278 0.483088350953085 FALSE 8.12242e-06 ENSE00000924227_005 ENSE00000924227 005 7 45103469 45103638 + 48 84 38 C T 45103533 987 65 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAATGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063933 45063934 45063934 exon 17 0.202380952380952 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAATGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 634 954 0.0202041623470089 0.00610116242098376 0.0131526623839963 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA -0.646047566763431 -0.796500114595826 0.839066766844461 0.734426503063625 NA -0.721273840679629 NA TRUE NA 1 7.591 . upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 COSM189185 1 NA ACG C,T 8.236e-06 7:45063934 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 missense_variant 5.561026 0.98153 0.99315 0.706548 0.989438122434248 0 0.483088350953085 FALSE 4.06111e-06 ENSE00000924227_006 ENSE00000924227 006 7 45103469 45103638 + 48 84 38 G A 45103534 988 66 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACATCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063934 45063935 45063935 exon 18 0.214285714285714 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACATCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 723 550 0.701856148128583 0.64111832657535 0.671487237351966 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA 0.0356044190181429 -0.161482950441461 0.839066766844461 0.734426503063625 NA -0.0629392657116588 NA FALSE NA 0.348 -0.124 . upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 rs375331762 1 NA A:0.0002 A:0 CGT G,A 0.0001647 7:45063935 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 synonymous_variant 1.812206 0.95685 0.43501 0.706548 0.638219436550154 0 0.483088350953085 FALSE 0.000150261 ENSE00000924227_007 ENSE00000924227 007 7 45103469 45103638 + 48 84 38 A T 45103538 989 70 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCTTACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063938 45063939 45063939 exon 22 0.261904761904762 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCTTACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 180 459 0.808613473113718 0.809276564694292 0.808945018904005 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA 0.142361744003278 0.00667528767748171 0.839066766844461 0.734426503063625 NA 0.07451851584038 NA FALSE NA 1 2.266 rs143149895 upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 rs143149895 1 NA T:0 T:0.0001 CAT A,T 8.236e-06 7:45063939 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 missense_variant 3.63608 0.971 0.96557 0.706548 0.977847991539571 0 0.483088350953085 FALSE 4.06088e-06 ENSE00000924227_010 ENSE00000924227 010 7 45103469 45103638 + 48 84 38 C T 45103558 992 90 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCTTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063958 45063959 45063959 exon 42 0.5 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCTTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 606 877 0.856044269967246 0.855888304987712 0.855966287477479 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA 0.189792540856807 0.0532870279709018 0.839066766844461 0.734426503063625 NA 0.121539784413854 NA FALSE NA 0.918 0.039 rs148244188 upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 rs148244188 1 T:0.0006 T:0 T:0 NA T:0.001 T:0.002 T:0 T:0.0007 T:0.0036 CCT C,T 0.001672 7:45063959 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 synonymous_variant 1.455841 0.95047 0.7934 0.706548 0.557767522482995 0 0.483088350953085 FALSE 0.00186391 ENSE00000924227_011 ENSE00000924227 011 7 45103469 45103638 + 48 84 38 G A 45103563 993 95 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAATAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063963 45063964 45063964 exon -38 0.55952380952381 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAATAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 576 86 0.720080463008906 0.8 0.760040231504453 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA 0.053828733898466 -0.00260127701681012 0.839066766844461 0.734426503063625 NA 0.0256137284408279 NA FALSE NA 1 9.601 . upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 1 NA AGT G,A 8.236e-06 7:45063964 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 missense_variant 4.435053 0.99219 0.99619 0.706548 0.980577702988886 0 0.483088350953085 FALSE NA ENSE00000924227_012 ENSE00000924227 012 7 45103469 45103638 + 48 84 38 T C 45103564 994 96 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGCAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063964 45063965 45063965 exon -37 0.571428571428571 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGCAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 1717 1323 0.0312447277433696 0.000483732477802197 0.0158642301105859 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA -0.63500700136707 -0.802117544539008 0.839066766844461 0.734426503063625 NA -0.718562272953039 NA TRUE NA 1 0.899 . upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 rs200869517 1 NA GTA T,C 8.236e-06 7:45063965 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 synonymous_variant 0.479418 0.9638 0.82619 0.706548 0.773618011158111 0 0.483088350953085 FALSE 4.06075e-06 ENSE00000924227_014 ENSE00000924227 014 7 45103469 45103638 + 48 84 38 T C 45103570 996 102 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACCGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45063970 45063971 45063971 exon -31 0.642857142857143 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACCGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 682 4247 0.953876984883383 0.957437945716938 0.955657465300161 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA 0.287625255772944 0.154836668700128 0.839066766844461 0.734426503063625 NA 0.221230962236536 NA FALSE NA 0 -2.5 . upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 1 NA CTG T,C 8.236e-06 7:45063971 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 synonymous_variant 0.255638 0.10839 0.05732 0.706548 0.583948125393612 0 0.483088350953085 FALSE 4.06095e-06 ENSE00000924227_019 ENSE00000924227 019 7 45103469 45103638 + 48 84 38 C T 45103612 1001 144 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCTTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 45064012 45064013 45064013 downstr_intron 12 1.32432432432432 GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCTTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG mutant NA NA NA NA NA 581 626 0.8107626712839 0.871652983320995 0.841207827302447 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 NA NA 0.14451094217346 0.0690517063041843 0.839066766844461 0.734426503063625 NA 0.106781324238822 NA FALSE NA 0 0.036 . upstream_gene_variant MODIFIER CCM2 HGNC 21708 ENST00000477605 1 NA CCT C,T 8.236e-06 7:45064013 CCM2 HGNC Symbol protein_coding 76994 ENSG00000136280 ENSE00003550573 intron_variant 0.715713 0.11795 0.06051 0.099367 0.580803177975449 0.0481801 0.483088350953085 FALSE 4.0661e-06 ENSE00000924227_BRK ENSE00000924227 BRK 7 45103469 45103638 + 48 84 38 A,G; T,T NA NA NA GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCTTTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGCCAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG 45063869 45064039 NA NA NA NA NA NA GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCTTTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGCCAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG GGCTCAGCTCCCATTTCTCATGGCATTTTTTTCTTCACTTTCTTTCAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGGTAACCCTATCCTCTTAACCCTGTGCACTAGCCCTCAG control 93 18 0 0 0 NA NA NA NA NA 0.836994255405056 0.841139278283867 0.66625172911044 0.80260127701681 -0.836994255405056 -0.841139278283867 NA NA 0.839066766844461 0.734426503063625 -0.839066766844461 NA NA NA TRUE NA NA NA NA NA CCM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCM2 NA NA NA ENSG00000136280 ENSE00003550573 NA NA NA NA NA NA NA 0.483088350953085 FALSE NA ENSE00000924492_000 ENSE00000924492 000 15 81234545 81234714 + 47 87 36 NA NA NA NA NA TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 NA NA NA NA NA NA TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC natural 160 144 0.989773618712722 0.993173372715424 0.991473495714073 6150 5738 0.994796985115248 0.94574255855254 0.970269771833894 0.989773618712722 0.993173372715424 0.994796985115248 0.94574255855254 0 0 0 0 0.991473495714073 0.970269771833894 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003607097 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00000924492_009 ENSE00000924492 009 15 81234545 81234714 + 47 87 36 G T 81234629 2250 85 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGATTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942287 80942288 80942288 exon 38 0.436781609195402 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGATTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 611 439 0.99952756484114 0.999913263399545 0.999720414120343 0.989773618712722 0.993173372715424 0.994796985115248 0.94574255855254 NA NA 0.00473057972589219 0.0541707048470051 0.991473495714073 0.970269771833894 NA 0.0294506422864487 NA FALSE NA 1 4.533 NA NA NA KIAA1199 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEMIP NA NA NA ENSG00000103888 ENSE00003607097 missense_variant 3.225341 0.76729 0.9229 0.562547 0.987864646173432 0 NA NA 8.12242e-06 ENSE00000924492_BRK ENSE00000924492 BRK 15 81234545 81234714 + 47 87 36 A,G; T,T NA NA NA TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCTTAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAACCAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 NA NA NA NA NA NA TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCTTAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAACCAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC control 262 103 0 0 0 1333 1313 0 0.00343078236063986 0.00171539118031993 0.989773618712722 0.993173372715424 0.994796985115248 0.94574255855254 -0.989773618712722 -0.993173372715424 -0.994796985115248 -0.9423117761919 0.991473495714073 0.970269771833894 -0.991473495714073 -0.968554380653574 0.0229191150604992 TRUE TRUE NA NA NA NA NA KIAA1199 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEMIP NA NA NA ENSG00000103888 ENSE00003607097 NA NA NA NA NA NA NA NA NA NA ENSE00000924918_000 ENSE00000924918 000 17 63173796 63173965 + 54 72 44 NA NA NA NA NA CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 NA NA NA NA NA NA CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC natural 444 158 0.877823344405374 0.980824513062858 0.929323928734116 3009 6786 0.900438566143012 0.993689403680265 0.947063984911638 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 0 0 0 0 0.929323928734116 0.947063984911638 0 0 0 FALSE FALSE NA NA NA NA NA RGS9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS9 NA NA NA ENSG00000108370 ENSE00003691363 NA NA NA NA NA NA NA 2.03911077308728e-10 FALSE NA ENSE00000924918_001 ENSE00000924918 001 17 63173796 63173965 + 54 72 44 G C 63173807 2855 12 CAGAAACTGGACACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177688 65177689 65177689 upstr_intron -43 -0.777777777777778 CAGAAACTGGACACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant 14 14 0.999379087773174 1 0.999689543886587 NA NA NA NA NA 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 0.121555743367799 0.019175486937142 NA NA 0.929323928734116 0.947063984911638 0.0703656151524706 NA NA NA FALSE 0.002 0.289 . intron_variant&NMD_transcript_variant MODIFIER RGS9 HGNC 10004 ENST00000584234 8/18 1 NA AGA G,C 8.272e-06 17:65177689 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 intron_variant -0.180809 0.23627 0.12126 0.074898 0.556039936416957 0.117579 2.03911077308728e-10 FALSE 4.06151e-06 ENSE00000924918_002 ENSE00000924918 002 17 63173796 63173965 + 54 72 44 C T 63173825 2856 30 CAGAAACTGGAGACTCTCCCTGTAATGACTTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177706 65177707 65177707 upstr_intron -25 -0.444444444444444 CAGAAACTGGAGACTCTCCCTGTAATGACTTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 611 523 0.99952756484114 0.985683448214923 0.992605506528031 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0990889986981283 -0.00800595546534222 0.929323928734116 0.947063984911638 NA 0.045541521616393 NA FALSE NA 0.001 0.159 . intron_variant&NMD_transcript_variant MODIFIER RGS9 HGNC 10004 ENST00000584234 8/18 1 NA CCT C,T 8.272e-06 17:65177707 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 intron_variant 0.79522 0.26515 0.05617 0.078448 0.674533717291093 0.740314 2.03911077308728e-10 FALSE 4.06134e-06 ENSE00000924918_003 ENSE00000924918 003 17 63173796 63173965 + 54 72 44 T C 63173838 2857 43 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTCATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177719 65177720 65177720 upstr_intron -12 -0.203703703703704 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTCATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 1679 1223 0.968454473067001 0.999813076210883 0.984133774638942 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0680159069239885 0.00612367253061852 0.929323928734116 0.947063984911638 NA 0.0370697897273035 NA FALSE NA 0.02 0.192 . intron_variant&NMD_transcript_variant MODIFIER RGS9 HGNC 10004 ENST00000584234 8/18 rs372539120 1 NA C:0 C:0.0001 TTA T,C 0.0001075 17:65177720 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 intron_variant -0.093035 0.25254 0.07548 0.078448 0.593124410939656 0.138271 2.03911077308728e-10 FALSE 4.87322e-05 ENSE00000924918_004 ENSE00000924918 004 17 63173796 63173965 + 54 72 44 T C 63173845 2858 50 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCACTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177726 65177727 65177727 upstr_intron -5 -0.0740740740740741 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCACTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant 12 16 0.966327981059893 1 0.983163990529947 657 1761 0.996658889684995 0.99803008784922 0.997344488767107 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 0.0885046366545188 0.019175486937142 0.0962203235419826 0.00434068416895539 0.929323928734116 0.947063984911638 0.0538400617958304 0.050280503855469 0.00355955794036139 FALSE FALSE 0 0.31 . splice_region_variant&intron_variant&NMD_transcript_variant LOW RGS9 HGNC 10004 ENST00000584234 8/18 rs377099212 1 NA C:0 C:0.0001 ATT T,C 8.272e-05 17:65177727 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 splice_region_variant -0.291502 0.22412 0.08225 0.24053 0.553577039589289 0.138271 2.03911077308728e-10 FALSE 6.09162e-05 ENSE00000924918_005 ENSE00000924918 005 17 63173796 63173965 + 54 72 44 C A 63173850 2859 55 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGACTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177731 65177732 65177732 exon 1 0.0138888888888889 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGACTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 1318 934 0.959114262509842 0.999836849591699 0.97947555605077 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0586756963668301 0.00614744591143379 0.929323928734116 0.947063984911638 NA 0.032411571139132 NA FALSE NA 1 4.738 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE RGS9 HGNC 10004 ENST00000584234 9/19 rs536881500 1 deleterious(0) probably_damaging(0.998) A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 GCC C,A 2.482e-05 17:65177732 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 missense_variant 4.615374 0.94288 0.84787 0.653281 0.819316599294234 0 2.03911077308728e-10 FALSE 1.62441e-05 ENSE00000924918_006 ENSE00000924918 006 17 63173796 63173965 + 54 72 44 T C 63173864 2860 69 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAACGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177745 65177746 65177746 exon 15 0.208333333333333 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAACGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 348 998 0.85078063024803 0.99523016511357 0.9230053976808 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA -0.0496579358949819 0.00154076143330528 0.929323928734116 0.947063984911638 NA -0.0240585872308383 NA FALSE NA 0 -4.674 . synonymous_variant&NMD_transcript_variant LOW RGS9 HGNC 10004 ENST00000584234 9/19 rs557181514 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 8.271e-06 17:65177746 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 synonymous_variant -0.66327 0.16124 0.0122 0.653281 0.379086450467282 0 2.03911077308728e-10 FALSE 8.12189e-06 ENSE00000924918_007 ENSE00000924918 007 17 63173796 63173965 + 54 72 44 A G 63173872 2861 77 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGGCTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177753 65177754 65177754 exon 23 0.319444444444444 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGGCTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 59 463 0.984704647307829 1 0.992352323653915 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.084266081164817 0.00631059631973518 0.929323928734116 0.947063984911638 NA 0.0452883387422761 NA FALSE NA 1 5.619 . missense_variant&NMD_transcript_variant MODERATE RGS9 HGNC 10004 ENST00000584234 9/19 1 deleterious(0) possibly_damaging(0.777) NA GAC A,G 8.271e-06 17:65177754 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 missense_variant 5.87714 0.937 0.86786 0.653281 0.966793516121725 0 2.03911077308728e-10 FALSE 4.06095e-06 ENSE00000924918_009 ENSE00000924918 009 17 63173796 63173965 + 54 72 44 G A 63173877 2863 82 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACAGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177758 65177759 65177759 exon 28 0.388888888888889 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACAGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 904 1358 0.999406684771317 0.999971971027773 0.999689327899545 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0989681186283052 0.00628256734750854 0.929323928734116 0.947063984911638 NA 0.0526253429879069 NA FALSE NA 1 5.92 . missense_variant&NMD_transcript_variant MODERATE RGS9 HGNC 10004 ENST00000584234 9/19 rs372181396 1 tolerated(0.09) probably_damaging(1) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 T:0 T:0.0001 CGG G,A 8.272e-06 17:65177759 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 missense_variant 5.828505 0.94274 0.86547 0.653281 0.965030939437497 0 2.03911077308728e-10 FALSE 1.21828e-05 ENSE00000924918_010 ENSE00000924918 010 17 63173796 63173965 + 54 72 44 T C 63173881 2864 86 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCCGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177762 65177763 65177763 exon 32 0.444444444444444 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCCGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant 101 14 0.77341036601935 0.90935058518269 0.84138047560102 1864 2202 1 0.979520325626457 0.989760162813228 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 -0.104412978386024 -0.0714739278801684 0.0995614338569879 -0.0141690780538083 0.929323928734116 0.947063984911638 -0.0879434531330963 0.0426961779015898 0.130639631034686 FALSE FALSE 1 4.868 . missense_variant&NMD_transcript_variant MODERATE RGS9 HGNC 10004 ENST00000584234 9/19 1 tolerated(0.16) probably_damaging(0.977) NA CTG T,C 5.79e-05 17:65177763 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 missense_variant 2.215356 0.93587 0.82257 0.653281 0.963924510007166 0 2.03911077308728e-10 FALSE 6.90367e-05 ENSE00000924918_011 ENSE00000924918 011 17 63173796 63173965 + 54 72 44 G A 63173883 2865 88 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGAACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177764 65177765 65177765 exon 34 0.472222222222222 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGAACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 960 94 0.822831722720482 0.994918676428101 0.908875199574292 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA -0.0776068434225301 0.00122927274783646 0.929323928734116 0.947063984911638 NA -0.0381887853373468 NA FALSE NA 1 1.018 . missense_variant&NMD_transcript_variant MODERATE RGS9 HGNC 10004 ENST00000584234 9/19 1 tolerated(0.12) benign(0.007) NA GGA G,A 1.654e-05 17:65177765 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 missense_variant 2.159465 0.89062 0.54721 0.653281 0.962381687988155 0 2.03911077308728e-10 FALSE NA ENSE00000924918_012 ENSE00000924918 012 17 63173796 63173965 + 54 72 44 C A 63173894 2866 99 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACAAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177775 65177776 65177776 exon -28 0.625 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACAAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant 18 19 0.997954467391537 0.997107800922171 0.997531134156854 NA NA NA NA NA 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 0.120131122986163 0.0162832878593128 NA NA 0.929323928734116 0.947063984911638 0.068207205422738 NA NA NA FALSE 0.084 0.068 . synonymous_variant&NMD_transcript_variant LOW RGS9 HGNC 10004 ENST00000584234 9/19 1 NA CCA C,A 8.271e-06 17:65177776 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 synonymous_variant 1.844959 0.76726 0.3985 0.653281 0.589029164455922 0 2.03911077308728e-10 FALSE 4.06101e-06 ENSE00000924918_013 ENSE00000924918 013 17 63173796 63173965 + 54 72 44 A G 63173896 2867 101 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAGTCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177777 65177778 65177778 exon -26 0.652777777777778 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAGTCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 2337 291 0.998603389314141 0.996798231254415 0.997700810284278 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0981648231711287 0.00310882757415032 0.929323928734116 0.947063984911638 NA 0.0506368253726395 NA FALSE NA 0.997 5.619 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:65177778 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 missense_variant 1.657137 0.92927 0.86429 0.653281 0.948188377290139 0 2.03911077308728e-10 FALSE 8.12203e-06 ENSE00000924918_014 ENSE00000924918 014 17 63173796 63173965 + 54 72 44 A T 63173896 2868 101 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCATTCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177777 65177778 65177778 exon -26 0.652777777777778 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCATTCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant 13 16 0.995099616780257 0.989645584796021 0.992372600788139 1280 119 0.99886924515382 0.973954014068194 0.986411629611007 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 0.117276272374882 0.00882107173316282 0.0984306790108077 -0.0197353896120706 0.929323928734116 0.947063984911638 0.0630486720540226 0.0393476446993686 0.023701027354654 FALSE FALSE 0.997 5.619 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS9 NA NA NA ENSG00000108370 ENSE00003691363 missense_variant 3.242533 0.92931 0.8656 0.653281 0.916796440367006 0 2.03911077308728e-10 FALSE 8.12203e-06 ENSE00000924918_015 ENSE00000924918 015 17 63173796 63173965 + 54 72 44 C G 63173898 2869 103 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATGCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177779 65177780 65177780 exon -24 0.680555555555556 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATGCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 822 392 0.996834968815239 0.989386923567547 0.993110946191393 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0963964026722273 -0.00430248011271817 0.929323928734116 0.947063984911638 NA 0.0460469612797546 NA FALSE NA 1 4.738 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:65177780 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 missense_variant 2.275226 0.94387 0.85483 0.653281 0.92512631391073 0 2.03911077308728e-10 FALSE 4.06111e-06 ENSE00000924918_016 ENSE00000924918 016 17 63173796 63173965 + 54 72 44 C T 63173898 2870 103 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATTCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177779 65177780 65177780 exon -24 0.680555555555556 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATTCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 1504 1472 0.985911646382933 0.998248761914993 0.992080204148963 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0854730802399214 0.00455935823472831 0.929323928734116 0.947063984911638 NA 0.0450162192373249 NA FALSE NA 1 4.738 NA NA NA RGS9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS9 NA NA NA ENSG00000108370 ENSE00003691363 missense_variant 4.801836 0.94183 0.82784 0.653281 0.95312124167804 0 2.03911077308728e-10 FALSE 4.06111e-06 ENSE00000924918_017 ENSE00000924918 017 17 63173796 63173965 + 54 72 44 C T 63173899 2871 104 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCTGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177780 65177781 65177781 exon -23 0.694444444444444 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCTGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 928 1722 0.997716137277148 0.999977896673146 0.998847016975147 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0972775711341357 0.00628849299288126 0.929323928734116 0.947063984911638 NA 0.0517830320635085 NA FALSE NA 1 4.738 rs145263061 missense_variant&NMD_transcript_variant MODERATE RGS9 HGNC 10004 ENST00000584234 9/19 rs145263061&COSM110602 1 tolerated(0.06) probably_damaging(0.967) NA CCG C,T 5.79e-05 17:65177781 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 missense_variant 6.985346 0.94164 0.8272 0.653281 0.963962662140623 0 2.03911077308728e-10 FALSE 4.46719e-05 ENSE00000924918_018 ENSE00000924918 018 17 63173796 63173965 + 54 72 44 G A 63173900 2872 105 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCAAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177781 65177782 65177782 exon -22 0.708333333333333 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCAAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 569 1428 0.998587039083479 0.998815135527202 0.998701087305341 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.098148472940467 0.00512573184693743 0.929323928734116 0.947063984911638 NA 0.0516371023937022 NA FALSE NA 0.39 -0.967 . synonymous_variant&NMD_transcript_variant LOW RGS9 HGNC 10004 ENST00000584234 9/19 COSM983000 1 NA CGA G,A 1.654e-05 17:65177782 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 synonymous_variant 1.558922 0.82458 0.07301 0.653281 0.67818781134071 0 2.03911077308728e-10 FALSE 2.03051e-05 ENSE00000924918_019 ENSE00000924918 019 17 63173796 63173965 + 54 72 44 T C 63173903 2873 108 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAACGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177784 65177785 65177785 exon -19 0.75 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAACGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 2801 718 0.999699286126888 0.996849358233987 0.998274322180438 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0992607199838759 0.00315995455372242 0.929323928734116 0.947063984911638 NA 0.0512103372687991 NA FALSE NA 1 3.314 . synonymous_variant&NMD_transcript_variant LOW RGS9 HGNC 10004 ENST00000584234 9/19 1 NA ATG T,C 8.272e-06 17:65177785 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 synonymous_variant 0.112556 0.91469 0.68315 0.653281 0.668378482209239 0 2.03911077308728e-10 FALSE 8.12196e-06 ENSE00000924918_020 ENSE00000924918 020 17 63173796 63173965 + 54 72 44 C G 63173909 2874 114 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTGAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177790 65177791 65177791 exon -13 0.833333333333333 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTGAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 176 103 1 1 1 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0995614338569879 0.00631059631973518 0.929323928734116 0.947063984911638 NA 0.0529360150883615 NA FALSE NA 0.92 -0.094 . synonymous_variant&NMD_transcript_variant LOW RGS9 HGNC 10004 ENST00000584234 9/19 COSM1303209 1 NA TCA C,G 4.962e-05 17:65177791 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 synonymous_variant 0.849364 0.88415 0.37173 0.653281 0.787951760495596 0 2.03911077308728e-10 FALSE 8.12196e-05 ENSE00000924918_021 ENSE00000924918 021 17 63173796 63173965 + 54 72 44 C T 63173919 2875 124 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACTAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177800 65177801 65177801 exon -3 0.972222222222222 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACTAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 542 195 0.988168686452534 0.998374443967507 0.99327156521002 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0877301203095217 0.00468504028724215 0.929323928734116 0.947063984911638 NA 0.0462075802983819 NA FALSE NA 1 0.894 . stop_gained&splice_region_variant&NMD_transcript_variant HIGH RGS9 HGNC 10004 ENST00000584234 9/19 1 NA CCA C,T 8.27e-06 17:65177801 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 stop_gained 11.456648 0.92199 0.55911 0.653281 0.998195361016374 0 2.03911077308728e-10 FALSE 4.06098e-06 ENSE00000924918_022 ENSE00000924918 022 17 63173796 63173965 + 54 72 44 T C 63173923 2876 128 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGCATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177804 65177805 65177805 downstr_intron 2 1.04651162790698 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGCATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant 10 78 1 0.995572358280152 0.997786179140076 170 1046 0.988046503234202 0.99526667951863 0.991656591376416 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 0.122176655594626 0.0147478452172938 0.0876079370911901 0.0015772758383652 0.929323928734116 0.947063984911638 0.0684622504059598 0.0445926064647776 0.0238696439411821 FALSE FALSE 1 4.444 . splice_donor_variant&NMD_transcript_variant HIGH RGS9 HGNC 10004 ENST00000584234 9/18 1 NA GTA T,C 8.27e-06 17:65177805 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 splice_donor_variant 4.926134 0.93506 0.9018 0.074388 0.993102619199229 0.974324 2.03911077308728e-10 FALSE 4.06105e-06 ENSE00000924918_023 ENSE00000924918 023 17 63173796 63173965 + 54 72 44 G T 63173945 2877 150 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGTGTAGGGCCTAGGTCGGATTC 65177677 65177847 65177826 65177827 65177827 downstr_intron 24 1.55813953488372 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGTGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 228 637 1 0.983689005880027 0.991844502940013 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0995614338569879 -0.0100003978002382 0.929323928734116 0.947063984911638 NA 0.0447805180283748 NA FALSE NA 0.001 0.388 . intron_variant&NMD_transcript_variant MODIFIER RGS9 HGNC 10004 ENST00000584234 9/18 1 NA GGG G,T 4.961e-05 17:65177827 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 intron_variant 0.214452 0.30557 0.17223 0.074388 0.827058223253749 0.0640786 2.03911077308728e-10 FALSE 2.43669e-05 ENSE00000924918_024 ENSE00000924918 024 17 63173796 63173965 + 54 72 44 G T 63173951 2878 156 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGTCCTAGGTCGGATTC 65177677 65177847 65177832 65177833 65177833 downstr_intron 30 1.69767441860465 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGTCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 393 109 0.867558222805818 0.87089334220026 0.869225782503039 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA -0.032880343337194 -0.122796061480005 0.929323928734116 0.947063984911638 NA -0.0778382024085996 NA FALSE NA 0 -0.003 . intron_variant&NMD_transcript_variant MODIFIER RGS9 HGNC 10004 ENST00000584234 9/18 1 NA GGC G,T 8.269e-06 17:65177833 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 intron_variant 0.178611 0.32441 0.15926 0.074388 0.780759510392896 0.0640786 2.03911077308728e-10 FALSE 4.06134e-06 ENSE00000924918_025 ENSE00000924918 025 17 63173796 63173965 + 54 72 44 C A 63173953 2879 158 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCATAGGTCGGATTC 65177677 65177847 65177834 65177835 65177835 downstr_intron 32 1.74418604651163 CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCATAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC mutant NA NA NA NA NA 750 1052 0.993832726411866 0.990871002909174 0.99235186466052 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 NA NA 0.0933941602688543 -0.00281840077109075 0.929323928734116 0.947063984911638 NA 0.0452878797488818 NA FALSE NA 0 -1.166 rs144032342 intron_variant&NMD_transcript_variant MODIFIER RGS9 HGNC 10004 ENST00000584234 9/18 rs144032342 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CCT C,A 1.654e-05 17:65177835 RGS9 HGNC Symbol protein_coding 126891 ENSG00000108370 ENSE00003691363 intron_variant 0.065005 0.20303 0.07889 0.074388 0.741606101399362 0.0640786 2.03911077308728e-10 FALSE 1.21837e-05 ENSE00000924918_BRK ENSE00000924918 BRK 17 63173796 63173965 + 54 72 44 A,G; T,T NA NA NA CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTTTCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGCCATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC 65177677 65177847 NA NA NA NA NA NA CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTTTCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGCCATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC CAGAAACTGGAGACTCTCCCTGTAATGACCTTATGTTGTTTTTATTCCATTTAGCCTGGAATGGACAATGTGCTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAGGTATGTCTCTGCTGCATAGTTTGGGTAGGGCCTAGGTCGGATTC control 31 15 0.85 0.85 0.85 18 35 1 0.960645682959163 0.980322841479582 0.877823344405374 0.980824513062858 0.900438566143012 0.993689403680265 -0.0278233444053743 -0.130824513062858 0.0995614338569879 -0.0330437207211014 0.929323928734116 0.947063984911638 -0.0793239287341161 0.0332588565679433 0.112582785302059 FALSE FALSE NA NA NA NA NA RGS9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS9 NA NA NA ENSG00000108370 ENSE00003691363 NA NA NA NA NA NA NA 2.03911077308728e-10 FALSE NA ENSE00000925071_000 ENSE00000925071 000 17 48154687 48154856 + 56 69 45 NA NA NA NA NA GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 NA NA NA NA NA NA GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG natural 99 126 0.99110919485262 0.991496091064784 0.991302642958702 455 1001 0.886104691041468 0.910383371395257 0.898244031218362 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 0 0 0 0 0.991302642958702 0.898244031218362 0 0 0 FALSE FALSE NA NA NA NA NA ITGA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGA3 NA NA NA ENSG00000005884 ENSE00000925071 NA NA NA NA NA NA NA 2.40911978006841e-05 FALSE NA ENSE00000925071_003 ENSE00000925071 003 17 48154687 48154856 + 56 69 45 G A 48154712 2366 26 GGGAGGACAAGCCCTACTTTGACCCAACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 50077347 50077348 50077348 upstr_intron -31 -0.535714285714286 GGGAGGACAAGCCCTACTTTGACCCAACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG mutant NA NA NA NA NA 109 406 0.903312150077296 1 0.951656075038648 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 NA NA 0.0172074590358284 0.0896166286047428 0.991302642958702 0.898244031218362 NA 0.0534120438202856 NA FALSE NA 0 -0.14 . upstream_gene_variant MODIFIER ITGA3 HGNC 6139 ENST00000507771 rs370880086 1 NA A:0 A:0.0001 CGA G,A 8.237e-05 17:50077348 ITGA3 HGNC Symbol protein_coding 34513 ENSG00000005884 ENSE00000925071 non_coding_transcript_exon_variant -0.241577 0.1535 0.10743 0.099367 0.558558638816421 0.0476178 2.40911978006841e-05 FALSE 4.89872e-05 ENSE00000925071_004 ENSE00000925071 004 17 48154687 48154856 + 56 69 45 C T 48154714 2367 28 GGGAGGACAAGCCCTACTTTGACCCGATCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 50077349 50077350 50077350 upstr_intron -29 -0.5 GGGAGGACAAGCCCTACTTTGACCCGATCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG mutant NA NA NA NA NA 479 183 1 0.999134794449014 0.999567397224507 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 NA NA 0.113895308958532 0.0887514230537567 0.991302642958702 0.898244031218362 NA 0.101323366006144 NA FALSE NA 0 0.25 . upstream_gene_variant MODIFIER ITGA3 HGNC 6139 ENST00000507771 1 NA ACC C,T 8.237e-06 17:50077350 ITGA3 HGNC Symbol protein_coding 34513 ENSG00000005884 ENSE00000925071 non_coding_transcript_exon_variant 0.695758 0.29249 0.10133 0.099367 0.768053107388887 0.0476178 2.40911978006841e-05 FALSE 4.07667e-06 ENSE00000925071_005 ENSE00000925071 005 17 48154687 48154856 + 56 69 45 C A 48154727 2368 41 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTAGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 50077362 50077363 50077363 upstr_intron -16 -0.267857142857143 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTAGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG mutant 432 315 0 0 0 13 134 0 0.00378537145585032 0.00189268572792516 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 -0.99110919485262 -0.991496091064784 -0.886104691041468 -0.906597999939407 0.991302642958702 0.898244031218362 -0.991302642958702 -0.896351345490437 0.0949512974682645 TRUE TRUE 0 -0.95 . upstream_gene_variant MODIFIER ITGA3 HGNC 6139 ENST00000507771 1 NA TCG C,A 8.236e-06 17:50077363 ITGA3 HGNC Symbol protein_coding 34513 ENSG00000005884 ENSE00000925071 non_coding_transcript_exon_variant 0.160242 0.25659 0.28993 0.099367 0.345181358342171 0.0397658 2.40911978006841e-05 FALSE 8.13491e-06 ENSE00000925071_006 ENSE00000925071 006 17 48154687 48154856 + 56 69 45 C T 48154743 2369 57 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGTCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 50077378 50077379 50077379 exon 1 0.0144927536231884 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGTCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG mutant 109 82 0.834765068793425 0.85 0.842382534396713 NA NA NA NA NA 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 -0.156344126059195 -0.141496091064784 NA NA 0.991302642958702 0.898244031218362 -0.148920108561989 NA NA NA FALSE 0 -1.841 . upstream_gene_variant MODIFIER ITGA3 HGNC 6139 ENST00000507771 1 NA GCC C,T 8.236e-06 17:50077379 ITGA3 HGNC Symbol protein_coding 34513 ENSG00000005884 ENSE00000925071 missense_variant -2.085415 0.09133 0.04959 0.706548 0.315726794584302 0 2.40911978006841e-05 FALSE 1.2188e-05 ENSE00000925071_010 ENSE00000925071 010 17 48154687 48154856 + 56 69 45 G A 48154764 2373 78 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATAAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 50077399 50077400 50077400 exon 22 0.318840579710145 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATAAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG mutant 40 77 0.917022659286684 0.916257834135483 0.916640246711084 15 29 0.912065121362044 0.95 0.931032560681022 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 -0.0740865355659354 -0.0752382569293009 0.0259604303205763 0.0396166286047429 0.991302642958702 0.898244031218362 -0.0746623962476181 0.0327885294626596 0.107450925710278 FALSE FALSE 1 5.842 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA3 HGNC 6139 ENST00000507771 1/4 1 NA TGA G,A 5.765e-05 17:50077400 ITGA3 HGNC Symbol protein_coding 34513 ENSG00000005884 ENSE00000925071 missense_variant 2.650827 0.55438 0.8671 0.706548 0.998565280747176 0 2.40911978006841e-05 FALSE 3.24929e-05 ENSE00000925071_012 ENSE00000925071 012 17 48154687 48154856 + 56 69 45 A G 48154767 2375 81 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGGCCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 50077402 50077403 50077403 exon 25 0.36231884057971 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGGCCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG mutant 17 17 0.817069388316081 0.85 0.83353469415804 NA NA NA NA NA 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 -0.174039806536539 -0.141496091064784 NA NA 0.991302642958702 0.898244031218362 -0.157767948800661 NA NA NA FALSE 1 5.493 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA3 HGNC 6139 ENST00000507771 1/4 1 NA GAC A,G 8.236e-06 17:50077403 ITGA3 HGNC Symbol protein_coding 34513 ENSG00000005884 ENSE00000925071 missense_variant 1.450588 0.58563 0.89466 0.706548 0.950410572590031 0 2.40911978006841e-05 FALSE NA ENSE00000925071_014 ENSE00000925071 014 17 48154687 48154856 + 56 69 45 C G 48154778 2377 92 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGGGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 50077413 50077414 50077414 exon -34 0.521739130434783 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGGGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG mutant 69 123 0.85 0.879343678950644 0.864671839475322 NA NA NA NA NA 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 -0.14110919485262 -0.11215241211414 NA NA 0.991302642958702 0.898244031218362 -0.12663080348338 NA NA NA FALSE 0.006 -1.305 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA3 HGNC 6139 ENST00000507771 1/4 1 NA GCG C,G 8.236e-06 17:50077414 ITGA3 HGNC Symbol protein_coding 34513 ENSG00000005884 ENSE00000925071 missense_variant 4.258281 0.38865 0.3113 0.706548 0.973766422434243 0 2.40911978006841e-05 FALSE 4.06197e-06 ENSE00000925071_016 ENSE00000925071 016 17 48154687 48154856 + 56 69 45 C A 48154820 2379 134 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACAGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 50077455 50077456 50077456 downstr_intron 9 1.20454545454545 GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACAGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG mutant 10 20 0.85 0.721260435757487 0.785630217878744 286 52 0.962791559095298 0.976735587033494 0.969763573064396 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 -0.14110919485262 -0.270235655307297 0.0766868680538305 0.0663522156382369 0.991302642958702 0.898244031218362 -0.205672425079958 0.0715195418460337 0.277191966925992 FALSE FALSE 0 -2.064 . intron_variant&non_coding_transcript_variant MODIFIER ITGA3 HGNC 6139 ENST00000507771 1/3 1 NA CCG C,A 8.236e-06 17:50077456 ITGA3 HGNC Symbol protein_coding 34513 ENSG00000005884 ENSE00000925071 intron_variant 1.530658 0.19464 0.05588 0.099367 0.754079469655015 0.0553542 2.40911978006841e-05 FALSE 8.13127e-06 ENSE00000925071_BRK ENSE00000925071 BRK 17 48154687 48154856 + 56 69 45 A,G; T,T NA NA NA GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCTTCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGCCGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG 50077322 50077492 NA NA NA NA NA NA GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCTTCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGCCGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG GGGAGGACAAGCCCTACTTTGACCCGACCCTGACCTTATTCGCCTTCTTTCCTCAGCCCGGGGCCTGCCAAGCTAATGAGACCATCTTTTGCGAGCTGGGGAACCCCTTCAAACGGAACCAGAGGGTGAGCACCGGCCACATCCTCCCAGTCCTCCTGGGTCCCTGGCTG control 78 18 0 0 0 NA NA NA NA NA 0.99110919485262 0.991496091064784 0.886104691041468 0.910383371395257 -0.99110919485262 -0.991496091064784 NA NA 0.991302642958702 0.898244031218362 -0.991302642958702 NA NA NA TRUE NA NA NA NA NA ITGA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGA3 NA NA NA ENSG00000005884 ENSE00000925071 NA NA NA NA NA NA NA 2.40911978006841e-05 FALSE NA ENSE00000925595_000 ENSE00000925595 000 1 220191741 220191910 - 50 60 60 NA NA NA NA NA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 NA NA NA NA NA NA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA natural 18 10 0.996053910288464 1 0.998026955144232 2717 5047 0.9955846049798 0.798114238183159 0.896849421581479 0.996053910288464 1 0.9955846049798 0.798114238183159 0 0 0 0 0.998026955144232 0.896849421581479 0 0 0 FALSE FALSE NA NA NA NA NA EPRS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPRS NA NA NA ENSG00000136628 ENSE00000925595 NA NA NA NA NA NA NA 3.847395094191e-07 FALSE NA ENSE00000925595_001 ENSE00000925595 001 1 220191741 220191910 - 50 60 60 T A 220191752 5055 159 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTTAGTCCCAAATA 220018398 220018568 220018409 220018410 220018410 downstr_intron 39 1.79591836734694 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTTAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 174 14 1 1 1 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.0044153950202005 0.201885761816841 0.998026955144232 0.896849421581479 NA 0.103150578418521 NA FALSE NA 0 -0.164 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 12/31 rs377270862 1 NA A:0 A:0.0001 TTA T,A 4.942e-05 1:220018410 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant -0.372532 0.19432 0.03721 0.295142 0.315962620751153 0.0879598 3.847395094191e-07 FALSE 4.47588e-05 ENSE00000925595_002 ENSE00000925595 002 1 220191741 220191910 - 50 60 60 A C 220191754 5056 157 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCGTAAGTCCCAAATA 220018398 220018568 220018411 220018412 220018412 downstr_intron 37 1.75510204081633 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCGTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 786 1410 0.998044596727295 0.999100558037862 0.998572577382578 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.00245999174749534 0.200986319854703 0.998026955144232 0.896849421581479 NA 0.101723155801099 NA FALSE NA 0.001 0.148 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 12/31 1 NA AAG A,C 8.237e-06 1:220018412 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant -0.840379 0.24855 0.1075 0.295142 0.527837466383491 0.0887426 3.847395094191e-07 FALSE 4.06855e-06 ENSE00000925595_003 ENSE00000925595 003 1 220191741 220191910 - 50 60 60 A G 220191757 5057 154 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCACGCTTAAGTCCCAAATA 220018398 220018568 220018414 220018415 220018415 downstr_intron 34 1.69387755102041 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCACGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 1374 2107 0.999609978632214 0.892377410181888 0.945993694407051 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.00402537365241484 0.0942631719987291 0.998026955144232 0.896849421581479 NA 0.049144272825572 NA FALSE NA 0.041 2.584 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 12/31 1 NA CAT A,G 8.237e-06 1:220018415 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant -0.491503 0.26036 0.39362 0.295142 0.512769020911302 0.0518745 3.847395094191e-07 FALSE 4.06802e-06 ENSE00000925595_005 ENSE00000925595 005 1 220191741 220191910 - 50 60 60 G C 220191766 5059 145 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTGTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018423 220018424 220018424 downstr_intron 25 1.51020408163265 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTGTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 711 2086 1 0.995439265402402 0.997719632701201 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.0044153950202005 0.197325027219242 0.998026955144232 0.896849421581479 NA 0.100870211119721 NA FALSE NA 0 -0.582 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 12/31 1 NA AGA G,C 8.237e-06 1:220018424 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant -0.890813 0.25714 0.20075 0.295142 0.441365144379842 0.0518745 3.847395094191e-07 FALSE 4.06504e-06 ENSE00000925595_007 ENSE00000925595 007 1 220191741 220191910 - 50 60 60 C T 220191771 5061 140 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTACCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018428 220018429 220018429 downstr_intron 20 1.40816326530612 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTACCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 135 16 1 0.883456825847689 0.941728412923845 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.0044153950202005 0.0853425876645298 0.998026955144232 0.896849421581479 NA 0.0448789913423652 NA FALSE NA 0 0.058 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 12/31 rs185739524 1 T:0.0012 T:0.0038 T:0.0014 NA T:0 T:0 T:0 T:0.0061 T:0.0001 GCA C,T 0.0005436 1:220018429 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant -0.501335 0.28405 0.34976 0.295142 0.525802347514654 0.0518745 3.847395094191e-07 FALSE 0.000430789 ENSE00000925595_008 ENSE00000925595 008 1 220191741 220191910 - 50 60 60 T C 220191788 5062 123 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTGTGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018445 220018446 220018446 downstr_intron 3 1.06122448979592 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTGTGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 826 132 0.993820194058099 0.998799979748756 0.996310086903428 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA -0.0017644109217001 0.200685741565597 0.998026955144232 0.896849421581479 NA 0.0994606653219485 NA FALSE NA 0.943 2.447 . splice_region_variant&intron_variant LOW EPRS HGNC 3418 ENST00000366923 12/31 rs374241113 1 NA C:0.0002 C:0 ATA T,C 8.236e-06 1:220018446 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 splice_region_variant 1.020442 0.98556 0.96844 0.295142 0.918345559456513 0.960932 3.847395094191e-07 FALSE 4.06256e-06 ENSE00000925595_009 ENSE00000925595 009 1 220191741 220191910 - 50 60 60 C A 220191790 5063 121 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGTTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018447 220018448 220018448 downstr_intron 1 1.02040816326531 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGTTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant 68 23 0 0 0 NA NA NA NA NA 0.996053910288464 1 0.9955846049798 0.798114238183159 -0.996053910288464 -1 NA NA 0.998026955144232 0.896849421581479 -0.998026955144232 NA NA NA TRUE 1 7.236 . splice_donor_variant HIGH EPRS HGNC 3418 ENST00000366923 12/31 rs377639302 1 NA T:0 T:0.0001 HC ACC C,A 1.647e-05 1:220018448 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 splice_donor_variant 5.23794 0.99571 0.99774 0.295142 0.995370355401297 0.989417 3.847395094191e-07 FALSE 4.06237e-05 ENSE00000925595_010 ENSE00000925595 010 1 220191741 220191910 - 50 60 60 T G 220191796 5064 115 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACCAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018453 220018454 220018454 exon -6 0.916666666666667 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACCAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 1553 20 0.99870276934952 0.992008816475837 0.995355792912678 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.00311816436972001 0.193894578292678 0.998026955144232 0.896849421581479 NA 0.0985063713311988 NA FALSE NA 1 7.462 . missense_variant MODERATE EPRS HGNC 3418 ENST00000366923 12/32 1 deleterious(0) probably_damaging(0.988) NA TTG T,G 8.236e-06 1:220018454 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 missense_variant 5.606017 0.99446 0.99775 0.732398 0.995590237686088 0 3.847395094191e-07 FALSE 4.0623e-06 ENSE00000925595_013 ENSE00000925595 013 1 220191741 220191910 - 50 60 60 C T 220191832 5067 79 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCATGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018489 220018490 220018490 exon 19 0.316666666666667 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCATGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 25 448 1 0.99120468789667 0.995602343948335 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.0044153950202005 0.193090449713511 0.998026955144232 0.896849421581479 NA 0.0987529223668556 NA FALSE NA 1 5.693 . missense_variant MODERATE EPRS HGNC 3418 ENST00000366923 12/32 1 deleterious(0) probably_damaging(0.991) NA ACG C,T 1.647e-05 1:220018490 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 missense_variant 7.048935 0.99707 0.99556 0.732398 0.998830430438111 0 3.847395094191e-07 FALSE 8.12526e-06 ENSE00000925595_014 ENSE00000925595 014 1 220191741 220191910 - 50 60 60 G A 220191833 5068 78 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTTGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018490 220018491 220018491 exon 18 0.3 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTTGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 55 61 1 0.937139884242542 0.968569942121271 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.0044153950202005 0.139025646059382 0.998026955144232 0.896849421581479 NA 0.0717205205397914 NA FALSE NA 0.931 0.709 . synonymous_variant LOW EPRS HGNC 3418 ENST00000366923 12/32 COSM4028364 1 NA CGA G,A 8.236e-06 1:220018491 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 synonymous_variant 1.141353 0.95277 0.37351 0.732398 0.656827225900208 0 3.847395094191e-07 FALSE 8.12513e-06 ENSE00000925595_015 ENSE00000925595 015 1 220191741 220191910 - 50 60 60 G C 220191846 5069 65 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTGCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018503 220018504 220018504 exon 5 0.0833333333333333 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTGCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 746 974 0.998835731573595 0.999960917880374 0.999398324726984 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.00325112659379523 0.201846679697214 0.998026955144232 0.896849421581479 NA 0.102548903145505 NA FALSE NA 1 5.516 . missense_variant MODERATE EPRS HGNC 3418 ENST00000366923 12/32 1 deleterious(0) probably_damaging(0.992) NA GGA G,C 8.236e-06 1:220018504 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 missense_variant 4.858179 0.99148 0.99035 0.732398 0.991868367527681 0 3.847395094191e-07 FALSE 4.06322e-06 ENSE00000925595_017 ENSE00000925595 017 1 220191741 220191910 - 50 60 60 G A 220191848 5071 63 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGTTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018505 220018506 220018506 exon 3 0.05 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGTTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 248 817 0.996271550217513 0.999439060380989 0.997855305299251 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.000686945237713954 0.20132482219783 0.998026955144232 0.896849421581479 NA 0.101005883717772 NA FALSE NA 1 0.648 . splice_region_variant&synonymous_variant LOW EPRS HGNC 3418 ENST00000366923 12/32 1 NA AGC G,A 8.236e-06 1:220018506 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 splice_region_variant 0.595984 0.96836 0.87954 0.732398 0.742263088789563 0 3.847395094191e-07 FALSE 4.06342e-06 ENSE00000925595_020 ENSE00000925595 020 1 220191741 220191910 - 50 60 60 A G 220191861 5074 50 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTACTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018518 220018519 220018519 upstr_intron -11 -0.166666666666667 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTACTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 1189 1673 1 0.998749192805924 0.999374596402962 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.0044153950202005 0.200634954622764 0.998026955144232 0.896849421581479 NA 0.102525174821482 NA FALSE NA 0.003 1.099 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 11/31 1 NA AAT A,G 3.295e-05 1:220018519 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant 0.001035 0.21339 0.13938 0.099367 0.479916693199992 0.226516 3.847395094191e-07 FALSE 2.03201e-05 ENSE00000925595_021 ENSE00000925595 021 1 220191741 220191910 - 50 60 60 C T 220191865 5075 46 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTATTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018522 220018523 220018523 upstr_intron -15 -0.233333333333333 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTATTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 572 314 0.998915775685071 1 0.999457887842535 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.003331170705271 0.201885761816841 0.998026955144232 0.896849421581479 NA 0.102608466261056 NA FALSE NA 0.004 -0.192 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 11/31 rs550927017 1 NA ACA C,T 7.413e-05 1:220018523 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant 0.491229 0.10825 0.00392 0.099367 0.532939041744135 0.1308 3.847395094191e-07 FALSE 2.44063e-05 ENSE00000925595_022 ENSE00000925595 022 1 220191741 220191910 - 50 60 60 T C 220191870 5076 41 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCGTGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018527 220018528 220018528 upstr_intron -20 -0.316666666666667 AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCGTGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 1019 139 0.999433219365691 0.995205524091584 0.997319371728637 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA 0.00384861438589168 0.197091285908424 0.998026955144232 0.896849421581479 NA 0.100469950147158 NA FALSE NA 0 -0.795 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 11/31 rs200568943 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATG T,C 1.647e-05 1:220018528 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant 0.409191 0.24941 0.08034 0.099367 0.624337450029668 0.1928 3.847395094191e-07 FALSE 4.06759e-06 ENSE00000925595_024 ENSE00000925595 024 1 220191741 220191910 - 50 60 60 A G 220191884 5078 27 AAAGGCAAAGTTCTAATTAATACTGCCTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018541 220018542 220018542 upstr_intron -34 -0.55 AAAGGCAAAGTTCTAATTAATACTGCCTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 369 995 0.988980649099933 0.982453042860667 0.9857168459803 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA -0.00660395587986673 0.184338804677507 0.998026955144232 0.896849421581479 NA 0.0888674243988203 NA FALSE NA 0.014 1.254 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 11/31 1 NA AAG A,G 8.236e-06 1:220018542 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant 0.401397 0.26614 0.2583 0.106106 0.47493541969528 0.0518745 3.847395094191e-07 FALSE 4.07774e-06 ENSE00000925595_025 ENSE00000925595 025 1 220191741 220191910 - 50 60 60 T C 220191889 5079 22 AAAGGCAAAGTTCTAATTAATGCTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 220018546 220018547 220018547 upstr_intron -39 -0.633333333333333 AAAGGCAAAGTTCTAATTAATGCTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA mutant NA NA NA NA NA 435 470 0.991467407139823 1 0.995733703569911 0.996053910288464 1 0.9955846049798 0.798114238183159 NA NA -0.00411719783997699 0.201885761816841 0.998026955144232 0.896849421581479 NA 0.0988842819884319 NA FALSE NA 0 -0.143 . intron_variant MODIFIER EPRS HGNC 3418 ENST00000366923 11/31 1 NA GTA T,C 8.236e-06 1:220018547 EPRS HGNC Symbol protein_coding 78057 ENSG00000136628 ENSE00000925595 intron_variant 0.429806 0.17797 0.06204 0.106106 0.447463907698264 0.0518745 3.847395094191e-07 FALSE 4.11093e-06 ENSE00000925595_BRK ENSE00000925595 BRK 1 220191741 220191910 - 50 60 60 A,G; T,T NA NA NA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTTTGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGCCATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA 220018398 220018568 NA NA NA NA NA NA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTTTGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGCCATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA AAAGGCAAAGTTCTAATTAATACTGCTTGCCCTTAAAATCATGTTGTTATTGTTTTTTAGGGCTCCTCACGTTCAGTCGTGAACATGGAGTGGGACAAAATCTGGGCGTTTAACAAAAAGGTATGTATGTTAACTCTCTGCCTTCTTTTCTCATGCTTAAGTCCCAAATA control 31 49 0 0 0 205 1198 0 0.00457560676394158 0.00228780338197079 0.996053910288464 1 0.9955846049798 0.798114238183159 -0.996053910288464 -1 -0.9955846049798 -0.793538631419218 0.998026955144232 0.896849421581479 -0.998026955144232 -0.894561618199509 0.103465336944723 TRUE TRUE NA NA NA NA NA EPRS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPRS NA NA NA ENSG00000136628 ENSE00000925595 NA NA NA NA NA NA NA 3.847395094191e-07 FALSE NA ENSE00000925832_000 ENSE00000925832 000 2 127834163 127834332 - 39 81 50 NA NA NA NA NA CACTCTCCTTTCCAAGGTAACACTCTCCCCTTCTCTCTTGGCTTCGGCAGGTTCTCCAGAAGCTGGGGAAGGCAGATGAGACCAAGGATGAGCAGTTTGAGCAGTGCGTCCAGAATTTCAACAAGCAGCTGGTGAGTGTGGGTGGCCCTTGGCCTTAGGGAGTTTGTGAA 127076586 127076756 NA NA NA NA NA NA CACTCTCCTTTCCAAGGTAACACTCTCCCCTTCTCTCTTGGCTTCGGCAGGTTCTCCAGAAGCTGGGGAAGGCAGATGAGACCAAGGATGAGCAGTTTGAGCAGTGCGTCCAGAATTTCAACAAGCAGCTGGTGAGTGTGGGTGGCCCTTGGCCTTAGGGAGTTTGTGAA CACTCTCCTTTCCAAGGTAACACTCTCCCCTTCTCTCTTGGCTTCGGCAGGTTCTCCAGAAGCTGGGGAAGGCAGATGAGACCAAGGATGAGCAGTTTGAGCAGTGCGTCCAGAATTTCAACAAGCAGCTGGTGAGTGTGGGTGGCCCTTGGCCTTAGGGAGTTTGTGAA natural NA NA NA NA NA 183 72 1 0.95582643886819 0.977913219434095 NA NA 1 0.95582643886819 NA NA 0 0 NA 0.977913219434095 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00000925832 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00000926455_000 ENSE00000926455 000 9 100077091 100077260 + 42 96 32 NA NA NA NA NA TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 NA NA NA NA NA NA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA natural 96 86 0.93284816250039 0.95645277223093 0.94465046736566 1312 510 0.982973389668008 0.931563236125988 0.957268312896998 0.93284816250039 0.95645277223093 0.982973389668008 0.931563236125988 0 0 0 0 0.94465046736566 0.957268312896998 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003642689 NA NA NA NA NA NA NA NA NA NA ENSE00000926455_017 ENSE00000926455 017 9 100077091 100077260 + 42 96 32 G A 100077169 1044 79 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTTTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314886 97314887 97314887 exon 37 0.385416666666667 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAAAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 76 416 0.968292546330506 1 0.984146273165253 0.93284816250039 0.95645277223093 0.982973389668008 0.931563236125988 NA NA -0.0146808433375016 0.0684367638740115 0.94465046736566 0.957268312896998 NA 0.026877960268255 NA FALSE NA 1 2.731 NA NA NA CCDC180 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC180 NA NA NA ENSG00000197816 ENSE00003642689 missense_variant 3.593498 0.97158 0.76946 0.562547 0.994140442164082 0 5.35201684379183e-22 FALSE 4.06095e-06 ENSE00000926784_000 ENSE00000926784 000 9 111644357 111644526 - 48 63 59 NA NA NA NA NA CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG 108882076 108882246 NA NA NA NA NA NA CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG natural 12 13 0.994425578038237 0.999579885533611 0.997002731785924 1586 1692 0.993023084940126 0.999186147839881 0.996104616390004 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 0 0 0 0 0.997002731785924 0.996104616390004 0 0 0 FALSE FALSE NA NA NA NA NA IKBKAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELP1 NA NA NA ENSG00000070061 ENSE00003661467 NA NA NA NA NA NA NA NA NA NA ENSE00000926784_001 ENSE00000926784 001 9 111644357 111644526 - 48 63 59 C G 111644371 1366 156 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTCCTAAGCAGAGAGAG 108882076 108882246 108882090 108882091 108882091 downstr_intron 34 1.72340425531915 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTCCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG mutant NA NA NA NA NA 455 13 0.987297410150671 1 0.993648705075335 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 NA NA -0.00572567478945551 0.000813852160118755 0.997002731785924 0.996104616390004 NA -0.00245591131466838 NA FALSE NA 0 0.195 . intron_variant&non_coding_transcript_variant MODIFIER IKBKAP HGNC 5959 ENST00000467959 3/5 1 NA GCA C,G 8.236e-06 9:108882091 ELP1 HGNC Symbol protein_coding 66599 ENSG00000070061 ENSE00003661467 intron_variant 0.638034 0.34015 0.12789 0.295142 0.814852066433006 0.0533179 NA NA 4.08727e-06 ENSE00000926784_003 ENSE00000926784 003 9 111644357 111644526 - 48 63 59 A T 111644388 1368 139 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAAACCTCTGGATGTTGGGTGCTAAGCAGAGAGAG 108882076 108882246 108882107 108882108 108882108 downstr_intron 17 1.36170212765957 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAAACCTCTGGATGTTGGGTGCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG mutant NA NA NA NA NA 117 118 0.995701141694802 0.977555104631901 0.986628123163351 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 NA NA 0.00267805675467558 -0.0216310432079803 0.997002731785924 0.996104616390004 NA -0.00947649322665234 NA FALSE NA 0 -0.051 . intron_variant&non_coding_transcript_variant MODIFIER IKBKAP HGNC 5959 ENST00000467959 3/5 rs376675055 1 NA T:0.0002 T:0 GAT A,T 1.647e-05 9:108882108 ELP1 HGNC Symbol protein_coding 66599 ENSG00000070061 ENSE00003661467 intron_variant -0.365822 0.20094 0.07521 0.295142 0.441006493506325 0.0533179 NA NA 4.07495e-06 ENSE00000926784_004 ENSE00000926784 004 9 111644357 111644526 - 48 63 59 A G 111644394 1369 133 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTCGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG 108882076 108882246 108882113 108882114 108882114 downstr_intron 11 1.23404255319149 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTCGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG mutant NA NA NA NA NA 92 338 1 0.99416258881212 0.99708129440606 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 NA NA 0.00697691505987397 -0.00502355902776164 0.997002731785924 0.996104616390004 NA 0.000976678016056165 NA FALSE NA 0 0.389 . intron_variant&non_coding_transcript_variant MODIFIER IKBKAP HGNC 5959 ENST00000467959 3/5 1 NA CAA A,G 8.236e-06 9:108882114 ELP1 HGNC Symbol protein_coding 66599 ENSG00000070061 ENSE00003661467 intron_variant 0.217936 0.19367 0.06979 0.295142 0.629272072916549 0.0525168 NA NA 4.07292e-06 ENSE00000926784_005 ENSE00000926784 005 9 111644357 111644526 - 48 63 59 G A 111644396 1370 131 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATTTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG 108882076 108882246 108882115 108882116 108882116 downstr_intron 9 1.19148936170213 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATTTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG mutant NA NA NA NA NA 30 51 1 1 1 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 NA NA 0.00697691505987397 0.000813852160118755 0.997002731785924 0.996104616390004 NA 0.00389538360999636 NA FALSE NA 0 -1.548 rs2275495 intron_variant&non_coding_transcript_variant MODIFIER IKBKAP HGNC 5959 ENST00000467959 3/5 rs2275495&COSM150664 1 A:0.1897 A:0.3669 A:0.2032 NA A:0.0863 A:0.1292 A:0.1094 A:0.3341 A:0.1108 AGA G,A 0.143 9:108882116 ELP1 HGNC Symbol protein_coding 66599 ENSG00000070061 ENSE00003661467 intron_variant 0.305074 0.15819 0.00725 0.295142 0.486615084678788 0.0525168 NA NA 0.1427 ENSE00000926784_010 ENSE00000926784 010 9 111644357 111644526 - 48 63 59 C G 111644428 1375 99 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTCCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG 108882076 108882246 108882147 108882148 108882148 exon -24 0.634920634920635 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTCCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG mutant NA NA NA NA NA 519 533 0.997028665953944 0.999406094377255 0.998217380165599 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 NA NA 0.00400558101381798 0.000219946537373672 0.997002731785924 0.996104616390004 NA 0.00211276377559583 NA FALSE NA 0.263 0.071 NA NA NA IKBKAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:108882148 ELP1 HGNC Symbol protein_coding 66599 ENSG00000070061 ENSE00003661467 missense_variant 4.945929 0.91158 0.36569 0.732398 0.996937906086994 0 NA NA 4.0704e-06 ENSE00000926784_011 ENSE00000926784 011 9 111644357 111644526 - 48 63 59 C T 111644431 1376 96 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAACTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG 108882076 108882246 108882150 108882151 108882151 exon -27 0.587301587301587 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAACTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG mutant NA NA NA NA NA 26 612 1 0.999438370531717 0.999719185265858 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 NA NA 0.00697691505987397 0.00025222269183578 0.997002731785924 0.996104616390004 NA 0.00361456887585487 NA FALSE NA 1 1.646 rs61749203 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IKBKAP HGNC 5959 ENST00000467959 3/6 rs61749203 1 NA T:0 T:0.0001 GCT C,T 4.942e-05 9:108882151 ELP1 HGNC Symbol protein_coding 66599 ENSG00000070061 ENSE00003661467 missense_variant 2.981684 0.90627 0.72254 0.732398 0.973788737758445 0 NA NA 4.47773e-05 ENSE00000926784_017 ENSE00000926784 017 9 111644357 111644526 - 48 63 59 G C 111644477 1382 50 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTGCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG 108882076 108882246 108882196 108882197 108882197 upstr_intron -10 -0.152542372881356 CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTGCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG mutant NA NA NA NA NA 61 272 1 0.945118023929931 0.972559011964966 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 NA NA 0.00697691505987397 -0.0540681239099502 0.997002731785924 0.996104616390004 NA -0.0235456044250381 NA FALSE NA 0 -0.431 . intron_variant&non_coding_transcript_variant MODIFIER IKBKAP HGNC 5959 ENST00000467959 2/5 1 NA GGA G,C 1.647e-05 9:108882197 ELP1 HGNC Symbol protein_coding 66599 ENSG00000070061 ENSE00003661467 intron_variant -0.398978 0.20836 0.14193 0.099367 0.408141252003327 0.156438 NA NA 8.20089e-06 ENSE00000926784_BRK ENSE00000926784 BRK 9 111644357 111644526 - 48 63 59 A,G; T,T NA NA NA CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCTTGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGCCAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG 108882076 108882246 NA NA NA NA NA NA CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCTTGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGCCAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG CTGTGATGACATCTGACATGCTCTCTTCACTTGTTGTCTTCTTCCTGTTCCCTTGTCAGGATTATGAAGAAGCTGTGCTCTTGCTGTTAGAAGGAGCTGCCTGGGAAGAAGCTTTGAGGCTGGTAAGAATCTTGTAAATCCTCTGGATGTTGGGTGCTAAGCAGAGAGAG control NA NA NA NA NA 2243 1097 0 0.0110057704391641 0.00550288521958206 0.994425578038237 0.999579885533611 0.993023084940126 0.999186147839881 NA NA -0.993023084940126 -0.988180377400717 0.997002731785924 0.996104616390004 NA -0.990601731170422 NA TRUE NA NA NA NA NA NA IKBKAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELP1 NA NA NA ENSG00000070061 ENSE00003661467 NA NA NA NA NA NA NA NA NA NA ENSE00000926808_000 ENSE00000926808 000 9 111954517 111954686 - 41 78 51 NA NA NA NA NA ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 NA NA NA NA NA NA ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC natural 11 20 0.993536541097118 0.95032348201224 0.971930011554679 4575 4240 0.923223775089255 0.942494233758026 0.932859004423641 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 0 0 0 0 0.971930011554679 0.932859004423641 0 0 0 FALSE FALSE NA NA NA NA NA RNU6-984P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L4B NA NA NA ENSG00000095203 ENSE00000926808 NA NA NA NA NA NA NA 0.999700026887568 TRUE NA ENSE00000926808_001 ENSE00000926808 001 9 111954517 111954686 - 41 78 51 T C 111954532 1404 155 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCGGAAAAGTCACAGACC 109192236 109192406 109192251 109192252 109192252 downstr_intron 26 1.65 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCGGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 130 334 1 0.997335504456813 0.998667752228407 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.076776224910745 0.0548412706987867 0.971930011554679 0.932859004423641 NA 0.0658087478047659 NA FALSE NA 1 1.342 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA CTG T,C 1.655e-05 9:109192252 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 intron_variant 2.76422 0.96827 0.85384 0.06567 0.829773778492113 0.515185 0.999700026887568 TRUE 8.67009e-06 ENSE00000926808_003 ENSE00000926808 003 9 111954517 111954686 - 41 78 51 A G 111954547 1406 140 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCCATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192266 109192267 109192267 downstr_intron 11 1.275 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCCATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 513 121 0.976213478614416 0.968053437022983 0.9721334578187 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.0529897035251607 0.0255592032649569 0.971930011554679 0.932859004423641 NA 0.0392744533950588 NA FALSE NA 0.001 -0.368 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA TAG A,G 8.276e-06 9:109192267 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 intron_variant 2.424201 0.15378 0.00488 0.06567 0.80591883987931 0.432958 0.999700026887568 TRUE NA ENSE00000926808_005 ENSE00000926808 005 9 111954517 111954686 - 41 78 51 G A 111954568 1408 119 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGTCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192287 109192288 109192288 exon -11 0.871794871794872 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGTCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 44 270 0.00881126195415593 0.0032384490165613 0.00602485548535862 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA -0.914412513135099 -0.939255784741465 0.971930011554679 0.932859004423641 NA -0.926834148938282 NA TRUE NA 1 5.913 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA GGC G,A 8.277e-06 9:109192288 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 missense_variant 6.934456 0.98832 0.95837 0.446893 0.999149674413218 0 0.999700026887568 TRUE 4.10948e-06 ENSE00000926808_006 ENSE00000926808 006 9 111954517 111954686 - 41 78 51 G T 111954576 1409 111 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTAACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192295 109192296 109192296 exon -19 0.769230769230769 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTAACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 694 332 0.873714817246486 0.990655949194669 0.932185383220578 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA -0.049508957842769 0.048161715436643 0.971930011554679 0.932859004423641 NA -0.000673621203062968 NA FALSE NA 1 4.248 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 rs374820492 1 NA T:0 T:0.0001 TGA G,T 8.277e-06 9:109192296 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 missense_variant 6.837352 0.9774 0.90346 0.446893 0.99848539944318 0 0.999700026887568 TRUE 4.10405e-06 ENSE00000926808_007 ENSE00000926808 007 9 111954517 111954686 - 41 78 51 C G 111954595 1410 92 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGCTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192314 109192315 109192315 exon -38 0.525641025641026 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGCTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 271 291 1 0.999456132720505 0.999728066360252 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.076776224910745 0.0569618989624783 0.971930011554679 0.932859004423641 NA 0.0668690619366116 NA FALSE NA 0.986 4.693 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 rs368838705 1 NA G:0 G:0.0001 ACC C,G 8.277e-06 9:109192315 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 missense_variant 4.189657 0.86968 0.88429 0.446893 0.996849160778522 0 0.999700026887568 TRUE 4.08744e-06 ENSE00000926808_008 ENSE00000926808 008 9 111954517 111954686 - 41 78 51 C T 111954597 1411 90 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCAGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192316 109192317 109192317 exon 39 0.5 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCAGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 1263 404 0.933304089436658 0.999432790046975 0.966368439741817 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.0100803143474028 0.0569385562889489 0.971930011554679 0.932859004423641 NA 0.0335094353181759 NA FALSE NA 0.03 -1.916 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA CCG C,T 1.655e-05 9:109192317 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 synonymous_variant 1.792775 0.09353 0.00296 0.446893 0.838636328840601 0 0.999700026887568 TRUE 1.22623e-05 ENSE00000926808_009 ENSE00000926808 009 9 111954517 111954686 - 41 78 51 G A 111954598 1412 89 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCTGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192317 109192318 109192318 exon 38 0.487179487179487 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCTGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 846 283 0.800190450388258 0.801784097704844 0.800987274046551 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA -0.123033324700997 -0.140710136053182 0.971930011554679 0.932859004423641 NA -0.13187173037709 NA FALSE NA 1 5.913 rs186511890 downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 rs186511890 1 A:0.0006 A:0 A:0 NA A:0 A:0.003 A:0 A:0.0011 A:0.0032 CGG G,A 0.001589 9:109192318 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 missense_variant 7.133472 0.98451 0.94221 0.446893 0.998924736817454 0 0.999700026887568 TRUE 0.00147563 ENSE00000926808_011 ENSE00000926808 011 9 111954517 111954686 - 41 78 51 C T 111954616 1414 71 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGATGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192335 109192336 109192336 exon 20 0.256410256410256 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGATGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 292 194 0.999333340485573 1 0.999666670242787 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.0761095653963183 0.0575057662419737 0.971930011554679 0.932859004423641 NA 0.066807665819146 NA FALSE NA 0.999 2.288 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 rs199718023 1 NA T:0 T:0.0001 ACC C,T 0.0003062 9:109192336 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 missense_variant 2.76233 0.93857 0.69959 0.446893 0.98027464326826 0 0.999700026887568 TRUE 0.000245383 ENSE00000926808_014 ENSE00000926808 014 9 111954517 111954686 - 41 78 51 G C 111954623 1417 64 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACGGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192342 109192343 109192343 exon 13 0.166666666666667 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACGGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 95 836 0.973133608815533 1 0.986566804407767 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.0499098337262782 0.0575057662419737 0.971930011554679 0.932859004423641 NA 0.0537077999841259 NA FALSE NA 0.998 1.5 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA CGG G,C 2.483e-05 9:109192343 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 missense_variant 3.430435 0.9677 0.47303 0.446893 0.991460186140051 0 0.999700026887568 TRUE 1.23029e-05 ENSE00000926808_015 ENSE00000926808 015 9 111954517 111954686 - 41 78 51 A G 111954629 1418 58 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCCCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192348 109192349 109192349 exon 7 0.0897435897435897 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCCCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 84 44 1 0.985875997456732 0.992937998728366 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.076776224910745 0.0433817636987054 0.971930011554679 0.932859004423641 NA 0.0600789943047252 NA FALSE NA 1 0.626 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA GAG A,G 8.277e-06 9:109192349 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 missense_variant 2.332537 0.95592 0.64805 0.446893 0.987754669106056 0 0.999700026887568 TRUE 4.214e-06 ENSE00000926808_016 ENSE00000926808 016 9 111954517 111954686 - 41 78 51 G A 111954640 1419 47 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCTCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192359 109192360 109192360 upstr_intron -5 -0.0784313725490196 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCTCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 101 150 1 0.999745884340422 0.999872942170211 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.076776224910745 0.0572516505823958 0.971930011554679 0.932859004423641 NA 0.0670139377465704 NA FALSE NA 0.04 0.164 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA GGG G,A 8.276e-06 9:109192360 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 splice_region_variant 1.262731 0.16445 0.05369 0.06567 0.780394428196495 0.321109 0.999700026887568 TRUE 8.70663e-06 ENSE00000926808_017 ENSE00000926808 017 9 111954517 111954686 - 41 78 51 G C 111954641 1420 46 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTGCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192360 109192361 109192361 upstr_intron -6 -0.0980392156862745 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTGCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 258 87 0.8 0.8 0.8 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA -0.123223775089255 -0.142494233758026 0.971930011554679 0.932859004423641 NA -0.132859004423641 NA FALSE NA 0.479 1.23 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA GGA G,C 8.276e-06 9:109192361 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 splice_region_variant 0.699203 0.22381 0.33743 0.06567 0.749730973794198 0.315289 0.999700026887568 TRUE NA ENSE00000926808_019 ENSE00000926808 019 9 111954517 111954686 - 41 78 51 C A 111954649 1422 38 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTTTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192368 109192369 109192369 upstr_intron -14 -0.254901960784314 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTTTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 651 449 0.976776227980277 1 0.988388113990138 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.053552452891022 0.0575057662419737 0.971930011554679 0.932859004423641 NA 0.0555291095664978 NA FALSE NA 0.071 -0.599 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA ACA C,A 8.275e-06 9:109192369 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 intron_variant 1.67097 0.27159 0.02919 0.06567 0.755726021063901 0.160901 0.999700026887568 TRUE NA ENSE00000926808_020 ENSE00000926808 020 9 111954517 111954686 - 41 78 51 A C 111954652 1423 35 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGGTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192371 109192372 109192372 upstr_intron -17 -0.313725490196078 ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGGTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 1397 159 0.00760594202772045 0.0877665208268565 0.0476862314272885 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA -0.915617833061535 -0.85472771293117 0.971930011554679 0.932859004423641 NA -0.885172772996352 NA TRUE NA 0 1.141 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA AAC A,C 8.276e-06 9:109192372 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 intron_variant 0.592987 0.15717 0.05711 0.06567 0.608856985467917 0.220949 0.999700026887568 TRUE 4.50653e-06 ENSE00000926808_021 ENSE00000926808 021 9 111954517 111954686 - 41 78 51 C T 111954657 1424 30 ATCATCAATGCAGTGCCGTCTCTAACCAGAGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192376 109192377 109192377 upstr_intron -22 -0.411764705882353 ATCATCAATGCAGTGCCGTCTCTAACCAGAGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 1836 299 0.999370692427872 0.881718329257592 0.940544510842732 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.076146917338617 -0.0607759045004348 0.971930011554679 0.932859004423641 NA 0.0076855064190911 NA FALSE NA 0.001 1.05 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA CCC C,T 1.655e-05 9:109192377 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 intron_variant 0.840072 0.72039 0.02707 0.06567 0.629177825066662 0.914293 0.999700026887568 TRUE NA ENSE00000926808_024 ENSE00000926808 024 9 111954517 111954686 - 41 78 51 T A 111954675 1427 12 ATCATCAATGCTGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 109192394 109192395 109192395 upstr_intron -40 -0.764705882352941 ATCATCAATGCTGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC mutant NA NA NA NA NA 561 439 0.996316491104941 0.991411943176269 0.993864217140605 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 NA NA 0.0730927160156863 0.0489177094182428 0.971930011554679 0.932859004423641 NA 0.0610052127169646 NA FALSE NA 0 -0.879 . downstream_gene_variant MODIFIER RNU6-984P HGNC 47947 ENST00000363236 1 NA CTG T,A 8.275e-06 9:109192395 EPB41L4B HGNC Symbol protein_coding 148989 ENSG00000095203 ENSE00000926808 intron_variant 0.541131 0.13316 0.02047 0.06567 0.585121302061779 0.0436289 0.999700026887568 TRUE 4.93613e-06 ENSE00000926808_BRK ENSE00000926808 BRK 9 111954517 111954686 - 41 78 51 A,G; T,T NA NA NA ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTTTAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGCCAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC 109192236 109192406 NA NA NA NA NA NA ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTTTAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGCCAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC ATCATCAATGCAGTGCCGTCTCTAACCAGGGGTGTTTGTCTGTCTCCCTAGAGCCCCTCTGACCGAGGAGGTGCCTTTACCCTGGAGCCGGGTGATCTTCTGATGGATTTCACAGAAGCCACTCCTCTGGTAAACTTCCTATTTTGCTAAAACCAGAAAAGTCACAGACC control 59 15 0 0 0 69 798 0.00438455042023789 0 0.00219227521011894 0.993536541097118 0.95032348201224 0.923223775089255 0.942494233758026 -0.993536541097118 -0.95032348201224 -0.918839224669017 -0.942494233758026 0.971930011554679 0.932859004423641 -0.971930011554679 -0.930666729213522 0.0412632823411573 TRUE TRUE NA NA NA NA NA RNU6-984P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L4B NA NA NA ENSG00000095203 ENSE00000926808 NA NA NA NA NA NA NA 0.999700026887568 TRUE NA ENSE00000927120_000 ENSE00000927120 000 9 129796662 129796831 + 48 84 38 NA NA NA NA NA TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 NA NA NA NA NA NA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA natural 19 22 1 0.998884899974654 0.999442449987327 2351 3204 0.928087551607754 0.938922010526081 0.933504781066917 1 0.998884899974654 0.928087551607754 0.938922010526081 0 0 0 0 0.999442449987327 0.933504781066917 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RALGPS1 NA NA NA ENSG00000136828 ENSE00003467780 NA NA NA NA NA NA NA 0.999856880539416 TRUE NA ENSE00000927120_001 ENSE00000927120 001 9 129796662 129796831 + 48 84 38 G A 129796701 2554 40 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGTACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034421 127034422 127034422 upstr_intron -9 -0.166666666666667 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTACTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 309 77 1 1 1 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.071912448392246 0.0610779894739192 0.999442449987327 0.933504781066917 NA 0.0664952189330826 NA FALSE NA 0.449 -0.314 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:127034422 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 intron_variant 2.509773 0.96667 0.44282 0.078448 0.713972869658583 0.395904 0.999856880539416 TRUE 8.12717e-06 ENSE00000927120_002 ENSE00000927120 002 9 129796662 129796831 + 48 84 38 G C 129796701 2555 40 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGGACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034421 127034422 127034422 upstr_intron -9 -0.166666666666667 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTCCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 396 198 0.996498724054711 1 0.998249362027355 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.0684111724469565 0.0610779894739192 0.999442449987327 0.933504781066917 NA 0.0647445809604378 NA FALSE NA 0.449 -0.314 NA NA NA RALGPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RALGPS1 NA NA NA ENSG00000136828 ENSE00003467780 intron_variant 2.160017 0.96909 0.49701 0.078448 0.722571588242357 0.395904 0.999856880539416 TRUE 2.03179e-05 ENSE00000927120_003 ENSE00000927120 003 9 129796662 129796831 + 48 84 38 G A 129796723 2556 62 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCATAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034443 127034444 127034444 exon 14 0.166666666666667 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTATGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 310 1132 0.997042307991087 0.993297217554281 0.995169762772684 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.0689547563833326 0.0543752070281998 0.999442449987327 0.933504781066917 NA 0.0616649817057662 NA FALSE NA 1 8.957 . missense_variant MODERATE RALGPS1 HGNC 16851 ENST00000319107 5/7 1 deleterious(0) probably_damaging(0.989) NA TGT G,A 8.236e-06 9:127034444 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 missense_variant 6.421167 0.99281 0.98329 0.706298 0.996717293226186 0 0.999856880539416 TRUE 4.06187e-06 ENSE00000927120_004 ENSE00000927120 004 9 129796662 129796831 + 48 84 38 G A 129796732 2557 71 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTATTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034452 127034453 127034453 exon 23 0.273809523809524 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAATAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 886 856 0.986251336881701 0.999815198309939 0.99303326759582 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.0581637852739471 0.0608931877838581 0.999442449987327 0.933504781066917 NA 0.0595284865289026 NA FALSE NA 1 4.519 rs61758793 missense_variant MODERATE RALGPS1 HGNC 16851 ENST00000319107 5/7 rs61758793 1 tolerated(1) benign(0.001) NA AGT G,A 8.236e-06 9:127034453 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 missense_variant 1.296691 0.97689 0.80094 0.706298 0.215162455925021 0 0.999856880539416 TRUE 8.12321e-06 ENSE00000927120_005 ENSE00000927120 005 9 129796662 129796831 + 48 84 38 T C 129796733 2558 72 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTGCTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034453 127034454 127034454 exon 24 0.285714285714286 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGCAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 252 458 1 0.999654533046658 0.999827266523329 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.071912448392246 0.060732522520577 0.999442449987327 0.933504781066917 NA 0.0663224854564115 NA FALSE NA 1 1.848 . synonymous_variant LOW RALGPS1 HGNC 16851 ENST00000319107 5/7 1 NA GTA T,C 1.647e-05 9:127034454 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 synonymous_variant 0.684104 0.9742 0.68946 0.706298 0.774727752531702 0 0.999856880539416 TRUE 2.84317e-05 ENSE00000927120_006 ENSE00000927120 006 9 129796662 129796831 + 48 84 38 G A 129796740 2559 79 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTTCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034460 127034461 127034461 exon 31 0.369047619047619 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGAAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 312 233 1 0.992459124818973 0.996229562409487 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.071912448392246 0.0535371142928925 0.999442449987327 0.933504781066917 NA 0.0627247813425693 NA FALSE NA 1 8.957 . missense_variant MODERATE RALGPS1 HGNC 16851 ENST00000319107 5/7 1 deleterious(0.05) possibly_damaging(0.771) NA GGA G,A 8.236e-06 9:127034461 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 missense_variant 5.950023 0.99281 0.98329 0.706298 0.999273730249465 0 0.999856880539416 TRUE 8.12288e-06 ENSE00000927120_009 ENSE00000927120 009 9 129796662 129796831 + 48 84 38 C T 129796763 2562 102 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACATTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034483 127034484 127034484 exon -31 0.642857142857143 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAATGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 230 55 0.99053783386332 1 0.99526891693166 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.062450282255566 0.0610779894739192 0.999442449987327 0.933504781066917 NA 0.0617641358647426 NA FALSE NA 0.146 -0.69 . synonymous_variant LOW RALGPS1 HGNC 16851 ENST00000319107 5/7 rs534223036 1 NA ACG C,T 4.118e-05 9:127034484 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 synonymous_variant 2.021243 0.94496 0.03997 0.706298 0.633619273047854 0 0.999856880539416 TRUE 3.24929e-05 ENSE00000927120_010 ENSE00000927120 010 9 129796662 129796831 + 48 84 38 G A 129796764 2563 103 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAATGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034484 127034485 127034485 exon -30 0.654761904761905 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACATTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 56 498 0.91323826053685 1 0.956619130268425 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA -0.0148492910709043 0.0610779894739192 0.999442449987327 0.933504781066917 NA 0.0231143492015075 NA FALSE NA 1 3.196 rs146032431 missense_variant MODERATE RALGPS1 HGNC 16851 ENST00000319107 5/7 rs146032431 1 tolerated(0.41) benign(0.021) A:0.0004 A:0 A:0.0014 NA A:0.001 A:0 A:0 A:0.0002 A:0 CGT G,A 0.0001565 9:127034485 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 missense_variant 3.168518 0.98298 0.90073 0.706298 0.993072012510735 0 0.999856880539416 TRUE 0.000121851 ENSE00000927120_013 ENSE00000927120 013 9 129796662 129796831 + 48 84 38 C T 129796779 2566 118 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCAGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034499 127034500 127034500 exon -15 0.833333333333333 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCTGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 731 19 1 0.900956888439885 0.950478444219942 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.071912448392246 -0.0379651220861961 0.999442449987327 0.933504781066917 NA 0.016973663153025 NA FALSE NA 0.676 1.638 . missense_variant MODERATE RALGPS1 HGNC 16851 ENST00000319107 5/7 1 deleterious(0) probably_damaging(0.953) NA CCG C,T 4.942e-05 9:127034500 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 missense_variant 7.495259 0.97019 0.68323 0.706298 0.998845175195262 0 0.999856880539416 TRUE 3.24971e-05 ENSE00000927120_014 ENSE00000927120 014 9 129796662 129796831 + 48 84 38 G A 129796780 2567 119 TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCTGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034500 127034501 127034501 exon -14 0.845238095238095 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCAGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 313 1933 1 0.996360705581548 0.998180352790774 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.071912448392246 0.0574386950554674 0.999442449987327 0.933504781066917 NA 0.0646755717238567 NA FALSE NA 1 8.957 . missense_variant MODERATE RALGPS1 HGNC 16851 ENST00000319107 5/7 COSM175908&COSM175909&COSM3904170 1 tolerated(0.17) benign(0.148) NA CGG G,A 1.647e-05 9:127034501 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 missense_variant 4.525468 0.99314 0.98301 0.706298 0.997923630368347 0 0.999856880539416 TRUE 4.062e-06 ENSE00000927120_018 ENSE00000927120 018 9 129796662 129796831 + 48 84 38 G T 129796810 2571 149 TGCTCTCTGGATAGGCACATGAAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034530 127034531 127034531 downstr_intron 17 1.45945945945946 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTTCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 146 86 1 1 1 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.071912448392246 0.0610779894739192 0.999442449987327 0.933504781066917 NA 0.0664952189330826 NA FALSE NA 0 -0.039 . intron_variant MODIFIER RALGPS1 HGNC 16851 ENST00000319107 5/6 1 NA TGC G,T 1.647e-05 9:127034531 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 intron_variant 2.360879 0.5331 0.06308 0.078448 0.894147940236172 0.797702 0.999856880539416 TRUE 8.1285e-06 ENSE00000927120_019 ENSE00000927120 019 9 129796662 129796831 + 48 84 38 G A 129796816 2572 155 TGCTCTCTGGATAGGTACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034536 127034537 127034537 downstr_intron 23 1.62162162162162 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTACCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 177 200 1 0.990154390381829 0.995077195190915 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.071912448392246 0.0512323798557481 0.999442449987327 0.933504781066917 NA 0.0615724141239971 NA FALSE NA 0 0.478 . intron_variant MODIFIER RALGPS1 HGNC 16851 ENST00000319107 5/6 rs547253702 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 8.237e-06 9:127034537 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 intron_variant 2.131049 0.27006 0.09503 0.078448 0.857293401372579 0.187923 0.999856880539416 TRUE 4.066e-06 ENSE00000927120_020 ENSE00000927120 020 9 129796662 129796831 + 48 84 38 T C 129796819 2573 158 TGCTCTCTGGATGGGCACATGCAAGGGGTGTTGCTTACCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCCTAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 127034539 127034540 127034540 downstr_intron 26 1.7027027027027 TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCCATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA mutant NA NA NA NA NA 335 40 1 1 1 1 0.998884899974654 0.928087551607754 0.938922010526081 NA NA 0.071912448392246 0.0610779894739192 0.999442449987327 0.933504781066917 NA 0.0664952189330826 NA FALSE NA 0 -0.21 . intron_variant MODIFIER RALGPS1 HGNC 16851 ENST00000319107 5/6 1 NA CTA T,C 8.237e-06 9:127034540 RALGPS1 HGNC Symbol protein_coding 308392 ENSG00000136828 ENSE00003467780 intron_variant 1.909324 0.2239 0.06377 0.078448 0.738102928024334 0.142835 0.999856880539416 TRUE 8.13378e-06 ENSE00000927120_BRK ENSE00000927120 BRK 9 129796662 129796831 + 48 84 38 A,G; T,T NA NA NA TGCTCTCTGGATAGGCACATGCAAGGGGTGTTGCTTGGCTGGTTAAACCTCCGGGTAAAGGCCACAACGTTAGGGGCAAGACTGTGTTTCTCCTTCTTACTCCATCCACAGCTGGCTAGTTCAAAGGAAGCACAGAATGAATTTCAACAGTGATTCTAGTTGGGATGCAA 127034382 127034552 NA NA NA NA NA NA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTTTGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGCCAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA TTGCATCCCAACTAGAATCACTGTTGAAATTCATTCTGTGCTTCCTAGGAACTAGCCAGCTGTGGATGGAGTAAGAAGGAGAAACACAGTCTTGCCCCTAACGTTGTGGCCTTTACCCGGAGGTTTAACCAGGTAAGCAACACCCCTTGCATGTGCCTATCCAGAGAGCA control 129 76 0 0 0 488 298 0 0 0 1 0.998884899974654 0.928087551607754 0.938922010526081 -1 -0.998884899974654 -0.928087551607754 -0.938922010526081 0.999442449987327 0.933504781066917 -0.999442449987327 -0.933504781066917 0.0659376689204095 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003467780 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000927179_000 ENSE00000927179 000 9 130434273 130434442 + 57 66 47 NA NA NA NA NA GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACATGGTGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 NA NA NA NA NA NA AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC natural 70 57 0.98049042641324 0.97935220967948 0.97992131804636 2929 4238 0.989256011047949 0.870219289689035 0.929737650368492 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 0 0 0 0 0.97992131804636 0.929737650368492 0 0 0 FALSE FALSE NA NA NA NA NA STXBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STXBP1 NA NA NA ENSG00000136854 ENSE00003487864 NA NA NA NA NA NA NA 0.999882943227088 TRUE NA ENSE00000927179_001 ENSE00000927179 001 9 130434273 130434442 + 57 66 47 G A 130434297 2700 25 GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACATGGTGTCACTTTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672017 127672018 127672018 upstr_intron -33 -0.56140350877193 AGCCTCCTAACATCAGGGCCATTAAAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 254 557 1 0.998612837026167 0.999306418513083 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.0107439889520509 0.128393547337132 0.97992131804636 0.929737650368492 NA 0.0695687681445915 NA FALSE NA 0 0.199 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 11/19 1 NA AGA G,A 8.236e-06 9:127672018 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant 0.02952 0.17016 0.03325 0.062308 0.574241640066311 0.046323 0.999882943227088 TRUE 4.06144e-06 ENSE00000927179_002 ENSE00000927179 002 9 130434273 130434442 + 57 66 47 A C 130434298 2701 26 GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACATGGTGTCACGCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672018 127672019 127672019 upstr_intron -32 -0.543859649122807 AGCCTCCTAACATCAGGGCCATTAGCGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 235 331 1 1 1 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.0107439889520509 0.129780710310965 0.97992131804636 0.929737650368492 NA 0.070262349631508 NA FALSE NA 0.001 0.149 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 11/19 1 NA GAG A,C 8.236e-06 9:127672019 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant -0.199098 0.20859 0.06566 0.062308 0.69506160278159 0.046323 0.999882943227088 TRUE 4.06114e-06 ENSE00000927179_003 ENSE00000927179 003 9 130434273 130434442 + 57 66 47 G T 130434299 2702 27 GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACATGGTGTCAATCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672019 127672020 127672020 upstr_intron -31 -0.526315789473684 AGCCTCCTAACATCAGGGCCATTAGATTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 47 944 1 0.99714115883269 0.998570579416345 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.0107439889520509 0.126921869143655 0.97992131804636 0.929737650368492 NA 0.0688329290478529 NA FALSE NA 0.004 1.185 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 11/19 1 NA AGT G,T 1.647e-05 9:127672020 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant 0.067087 0.38357 0.21369 0.062308 0.781198692089131 0.046323 0.999882943227088 TRUE 2.03054e-05 ENSE00000927179_004 ENSE00000927179 004 9 130434273 130434442 + 57 66 47 C T 130434305 2703 33 GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACATGATGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672025 127672026 127672026 upstr_intron -25 -0.421052631578947 AGCCTCCTAACATCAGGGCCATTAGAGTGACATCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 2347 483 0.996022767055934 0.996999255005294 0.996511011030614 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.00676675600798526 0.126779965316259 0.97992131804636 0.929737650368492 NA 0.0667733606621224 NA FALSE NA 0.001 0.836 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 11/19 1 NA ACC C,T 1.647e-05 9:127672026 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant -0.10231 0.23085 0.18968 0.080785 0.603001346167785 0.046323 0.999882943227088 TRUE 2.43649e-05 ENSE00000927179_006 ENSE00000927179 006 9 130434273 130434442 + 57 66 47 T C 130434308 2705 36 GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACGTGGTGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672028 127672029 127672029 upstr_intron -22 -0.368421052631579 AGCCTCCTAACATCAGGGCCATTAGAGTGACACCACGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 377 210 1 0.994951969813575 0.997475984906788 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.0107439889520509 0.12473268012454 0.97992131804636 0.929737650368492 NA 0.0677383345382956 NA FALSE NA 0 -0.063 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 11/19 1 NA ATG T,C 8.236e-06 9:127672029 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant 0.157494 0.1942 0.01136 0.080785 0.586002082775553 0.046323 0.999882943227088 TRUE 4.06075e-06 ENSE00000927179_007 ENSE00000927179 007 9 130434273 130434442 + 57 66 47 C G 130434316 2706 44 GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGCAAAGCACATGGTGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672036 127672037 127672037 upstr_intron -14 -0.228070175438596 AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTGCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 1401 445 0.998127825801978 0.980218386110299 0.989173105956139 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.00887181475402921 0.109999096421265 0.97992131804636 0.929737650368492 NA 0.0594354555876469 NA FALSE NA 0 -0.013 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 11/19 1 NA TCC C,G 8.236e-06 9:127672037 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant 0.490255 0.2534 0.09312 0.080785 0.651444050622758 0.046323 0.999882943227088 TRUE 4.06068e-06 ENSE00000927179_008 ENSE00000927179 008 9 130434273 130434442 + 57 66 47 T C 130434318 2707 46 GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAGGGAAAGCACATGGTGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672038 127672039 127672039 upstr_intron -12 -0.192982456140351 AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCCTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 534 417 0.875710879995647 0.862875434346835 0.869293157171241 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA -0.113545131052302 -0.00734385534220028 0.97992131804636 0.929737650368492 NA -0.0604444931972511 NA FALSE NA 0.009 1.167 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 11/19 rs201759551 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTT T,C 8.236e-06 9:127672039 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant 0.970971 0.23157 0.18033 0.080785 0.759284924541112 0.131045 0.999882943227088 TRUE NA ENSE00000927179_010 ENSE00000927179 010 9 130434273 130434442 + 57 66 47 G A 130434391 2709 119 GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGTTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACATGGTGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672111 127672112 127672112 exon -5 0.939393939393939 AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAACAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 1927 23 0.998617560478504 0.993060714384897 0.995839137431701 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.00936154943055478 0.122841424695863 0.97992131804636 0.929737650368492 NA 0.0661014870632087 NA FALSE NA 1 7.979 . missense_variant MODERATE STXBP1 HGNC 11444 ENST00000373302 12/20 1 tolerated(0.38) probably_damaging(0.995) NA AGC G,A 8.236e-06 9:127672112 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 missense_variant 3.657152 0.99398 0.98879 0.706548 0.876497473060569 0 0.999882943227088 TRUE 4.06134e-06 ENSE00000927179_012 ENSE00000927179 012 9 130434273 130434442 + 57 66 47 C G 130434416 2711 144 GCTGTTTCTACTCAATTATTCAAACACATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACATGGTGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672136 127672137 127672137 downstr_intron 21 1.45652173913043 AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATGTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 500 14 1 1 1 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.0107439889520509 0.129780710310965 0.97992131804636 0.929737650368492 NA 0.070262349631508 NA FALSE NA 0 -5.704 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 12/19 1 NA TCT C,G 8.236e-06 9:127672137 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant -0.173642 0.13059 0.0143 0.088506 0.60022324064153 0.0455939 0.999882943227088 TRUE 4.06309e-06 ENSE00000927179_013 ENSE00000927179 013 9 130434273 130434442 + 57 66 47 G A 130434432 2712 160 GCTGTTTCTATTCAATTATTCAAACAGATGATTTGGGGCTGCCATACCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTCTGTAAGGGAAAGGAAAGCACATGGTGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 127672152 127672153 127672153 downstr_intron 37 1.80434782608696 AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAATAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC mutant NA NA NA NA NA 445 430 1 1 1 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 NA NA 0.0107439889520509 0.129780710310965 0.97992131804636 0.929737650368492 NA 0.070262349631508 NA FALSE NA 0.001 0.27 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 12/19 1 NA AGT G,A 8.236e-06 9:127672153 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003487864 intron_variant 0.135447 0.14683 0.01999 0.099367 0.38757668607958 0.0455939 0.999882943227088 TRUE 4.06818e-06 ENSE00000927179_BRK ENSE00000927179 BRK 9 130434273 130434442 + 57 66 47 A,G; T,T NA NA NA GCTGTTTCTACTCAATTATTCAAACAGATGATTTGGGGCTGCCATGGCTTGCTGAGCTCTTTCTGGTACTGAGGCATCTTCTTCAGCATCTGGGACAGGTCCCGCATGGTGGTAAGTAAGGGAAAGGAAAGCACATGGTGTCACTCTAATGGCCCTGATGTTAGGAGGCT 127671993 127672163 NA NA NA NA NA NA AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACTTACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGCCATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC AGCCTCCTAACATCAGGGCCATTAGAGTGACACCATGTGCTTTCCTTTCCCTTACAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGGTATGGCAGCCCCAAATCATCTGTTTGAATAATTGAGTAGAAACAGC control 244 244 0 0 0 NA NA NA NA NA 0.98049042641324 0.97935220967948 0.989256011047949 0.870219289689035 -0.98049042641324 -0.97935220967948 NA NA 0.97992131804636 0.929737650368492 -0.97992131804636 NA NA NA TRUE NA NA NA NA NA STXBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STXBP1 NA NA NA ENSG00000136854 ENSE00003487864 NA NA NA NA NA NA NA 0.999882943227088 TRUE NA ENSE00000927180_000 ENSE00000927180 000 9 130435410 130435579 + 50 81 39 NA NA NA NA NA ATGCATCCATGATTAGTCCCTTGGTCACAAACTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGC 127673130 127673300 NA NA NA NA NA NA ATGCATCCATGATTAGTCCCTTGGTCACAAACTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGC ATGCATCCATGATTAGTCCCTTGGTCACAAACTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGC natural NA NA NA NA NA 986 666 0.838816911597168 0.975131433491888 0.906974172544528 NA NA 0.838816911597168 0.975131433491888 NA NA 0 0 NA 0.906974172544528 NA 0 NA FALSE NA NA NA NA NA NA STXBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STXBP1 NA NA NA ENSG00000136854 ENSE00003612856 NA NA NA NA NA NA NA 0.999882943227088 TRUE NA ENSE00000927180_003 ENSE00000927180 003 9 130435410 130435579 + 50 81 39 C G 130435441 2715 32 ATGCATCCATGATTAGTCCCTTGGTCACAAAGTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGC 127673130 127673300 127673161 127673162 127673162 upstr_intron -19 -0.36 ATGCATCCATGATTAGTCCCTTGGTCACAAAGTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGC ATGCATCCATGATTAGTCCCTTGGTCACAAACTGTTGTGCTTTTTCCTAGTACTCCACCCACCTGCACCTTGCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGTAGGACTCTCCTTCTGCCACGGCAAGTTTTTGCCAGGC mutant NA NA NA NA NA 137 292 1 1 1 NA NA 0.838816911597168 0.975131433491888 NA NA 0.161183088402832 0.0248685665081119 NA 0.906974172544528 NA 0.0930258274554721 NA FALSE NA 0 -0.051 . intron_variant MODIFIER STXBP1 HGNC 11444 ENST00000373302 12/19 1 NA ACT C,G 8.236e-06 9:127673162 STXBP1 HGNC Symbol protein_coding 116657 ENSG00000136854 ENSE00003612856 intron_variant 1.127625 0.24506 0.11293 0.062308 0.701241376061721 0.211427 0.999882943227088 TRUE 4.06075e-06 ENSE00000927296_000 ENSE00000927296 000 9 132620270 132620439 + 59 63 48 NA NA NA NA NA CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 NA NA NA NA NA NA CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG natural 31 53 0.988728532352371 0.956246873179725 0.972487702766048 2672 1310 0.993861031735474 0.988284541377998 0.991072786556736 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 0 0 0 0 0.972487702766048 0.991072786556736 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP20 NA NA NA ENSG00000136878 ENSE00003500439 NA NA NA NA NA NA NA 0.00188749026993717 FALSE NA ENSE00000927296_001 ENSE00000927296 001 9 132620270 132620439 + 59 63 48 T C 132620284 3060 15 CTGTGTTGACACCACCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858004 129858005 129858005 upstr_intron -45 -0.745762711864407 CTGTGTTGACACCACCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 445 635 0.997927342299517 0.996821373636862 0.997374357968189 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00406631056404283 0.00853683225886304 0.972487702766048 0.991072786556736 NA 0.00630157141145293 NA FALSE NA 0 -1.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:129858005 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 intron_variant 0.216082 0.17671 0.04216 0.099367 0.605744897862386 0.055713 0.00188749026993717 FALSE 4.08884e-06 ENSE00000927296_004 ENSE00000927296 004 9 132620270 132620439 + 59 63 48 G A 132620296 3063 27 CTGTGTTGACACCATCCTTTTGGCAAACTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858016 129858017 129858017 upstr_intron -33 -0.542372881355932 CTGTGTTGACACCATCCTTTTGGCAAACTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 285 80 0.997519060862813 0.99801792109042 0.997768490976616 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00365802912733892 0.00973337971242116 0.972487702766048 0.991072786556736 NA 0.00669570441988004 NA FALSE NA 0 -0.503 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:129858017 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 intron_variant 0.102985 0.17332 0.06751 0.156188 0.475605390913661 0.0565457 0.00188749026993717 FALSE 4.07701e-06 ENSE00000927296_005 ENSE00000927296 005 9 132620270 132620439 + 59 63 48 G T 132620296 3064 27 CTGTGTTGACACCATCCTTTTGGCAATCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858016 129858017 129858017 upstr_intron -33 -0.542372881355932 CTGTGTTGACACCATCCTTTTGGCAATCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 452 339 0.989788673383115 0.999775160142105 0.99478191676261 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA -0.00407235835235886 0.0114906187641063 0.972487702766048 0.991072786556736 NA 0.00370913020587371 NA FALSE NA 0 -0.503 NA NA NA USP20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP20 NA NA NA ENSG00000136878 ENSE00003500439 intron_variant -0.194965 0.16738 0.04226 0.156188 0.610686099202894 0.0565457 0.00188749026993717 FALSE 4.07701e-06 ENSE00000927296_007 ENSE00000927296 007 9 132620270 132620439 + 59 63 48 C T 132620307 3066 38 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCATTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858027 129858028 129858028 upstr_intron -22 -0.355932203389831 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCATTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 133 113 1 1 1 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00892721344326364 NA FALSE NA 0 -0.479 . intron_variant MODIFIER USP20 HGNC 12619 ENST00000372429 4/25 1 NA ACT C,T 1.652e-05 9:129858028 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 intron_variant 0.274739 0.20684 0.04308 0.156188 0.554649073147512 0.0565457 0.00188749026993717 FALSE 8.13842e-06 ENSE00000927296_009 ENSE00000927296 009 9 132620270 132620439 + 59 63 48 C T 132620315 3068 46 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTTCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858035 129858036 129858036 upstr_intron -14 -0.220338983050847 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTTCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 973 827 1 1 1 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00892721344326364 NA FALSE NA 0 -1.517 . intron_variant MODIFIER USP20 HGNC 12619 ENST00000372429 4/25 1 NA TCC C,T 8.261e-06 9:129858036 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 intron_variant -0.085048 0.18367 0.09131 0.156188 0.220095504190633 0.0565457 0.00188749026993717 FALSE NA ENSE00000927296_011 ENSE00000927296 011 9 132620270 132620439 + 59 63 48 T C 132620330 3070 61 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGCTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858050 129858051 129858051 exon 2 0.0317460317460317 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGCTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 98 407 0.979356964040799 1 0.9896784820204 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA -0.0145040676946748 0.0117154586220015 0.972487702766048 0.991072786556736 NA -0.00139430453633665 NA FALSE NA 0.869 1.503 . missense_variant&splice_region_variant MODERATE USP20 HGNC 12619 ENST00000372429 5/26 1 tolerated(0.76) benign(0.005) NA GTT T,C 8.262e-06 9:129858051 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 missense_variant -1.065891 0.90299 0.75645 0.706548 0.328642973103621 0 0.00188749026993717 FALSE 4.06693e-06 ENSE00000927296_012 ENSE00000927296 012 9 132620270 132620439 + 59 63 48 C G 132620338 3071 69 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCGCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858058 129858059 129858059 exon 10 0.158730158730159 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCGCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 10 255 1 1 1 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00892721344326364 NA FALSE NA 0.998 0.868 . missense_variant MODERATE USP20 HGNC 12619 ENST00000372429 5/26 rs201626785 1 tolerated(0.52) benign(0.004) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0.0002 G:0.0002 CCC C,G 0.0004048 9:129858059 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 missense_variant 0.016028 0.91944 0.8525 0.706548 0.125714815052376 0 0.00188749026993717 FALSE 0.000370099 ENSE00000927296_013 ENSE00000927296 013 9 132620270 132620439 + 59 63 48 C T 132620352 3072 83 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGTGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858072 129858073 129858073 exon 24 0.380952380952381 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGTGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 24 124 1 0.992269233209502 0.996134616604751 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.00398469183150396 0.972487702766048 0.991072786556736 NA 0.00506183004801486 NA FALSE NA 0.421 -0.179 . synonymous_variant LOW USP20 HGNC 12619 ENST00000372429 5/26 rs549242351 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCG C,T 3.304e-05 9:129858073 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 synonymous_variant 1.535316 0.86694 0.20868 0.706548 0.494122150458212 0 0.00188749026993717 FALSE 4.06918e-05 ENSE00000927296_014 ENSE00000927296 014 9 132620270 132620439 + 59 63 48 T C 132620364 3073 95 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTCGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858084 129858085 129858085 exon -28 0.571428571428571 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTCGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 279 1706 0.992699087988906 0.976386971083817 0.984543029536362 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA -0.00116194374656786 -0.0118975702941816 0.972487702766048 0.991072786556736 NA -0.00652975702037473 NA FALSE NA 0.76 0.071 rs10819568 synonymous_variant LOW USP20 HGNC 12619 ENST00000372429 5/26 rs10819568&COSM4163410&COSM4163409&COSM4163408 1 T:0.1156 C:0.7337 C:0.9164 NA C:0.997 C:0.9215 C:0.911 C:0.7855 C:0.9042 TTG C,C 0.915 9:129858085 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 synonymous_variant -0.4055 0.88356 0.53001 0.706548 0.464317360058052 0 0.00188749026993717 FALSE 0.916863 ENSE00000927296_015 ENSE00000927296 015 9 132620270 132620439 + 59 63 48 G A 132620365 3074 96 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTACTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858085 129858086 129858086 exon -27 0.587301587301587 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTACTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 388 578 1 1 1 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00892721344326364 NA FALSE NA 0.963 4.137 . missense_variant MODERATE USP20 HGNC 12619 ENST00000372429 5/26 COSM1314560&COSM1314559&COSM1314558 1 tolerated(0.24) benign(0.043) NA TGC G,A 0.0001239 9:129858086 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 missense_variant 1.508972 0.93719 0.87561 0.706548 0.910354560355822 0 0.00188749026993717 FALSE 9.77223e-05 ENSE00000927296_016 ENSE00000927296 016 9 132620270 132620439 + 59 63 48 A G 132620377 3075 108 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCGCCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858097 129858098 129858098 exon -15 0.777777777777778 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCGCCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 282 180 0.940120902335732 0.996469102425582 0.968295002380657 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA -0.0537401293997426 0.0081845610475838 0.972487702766048 0.991072786556736 NA -0.0227777841760794 NA FALSE NA 1 9.036 . missense_variant MODERATE USP20 HGNC 12619 ENST00000372429 5/26 1 tolerated(0.05) benign(0.283) NA CAC A,G 8.262e-06 9:129858098 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 missense_variant 2.805469 0.96789 0.97365 0.706548 0.992527435891501 0 0.00188749026993717 FALSE 4.07262e-06 ENSE00000927296_018 ENSE00000927296 018 9 132620270 132620439 + 59 63 48 A G 132620380 3077 111 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCGTTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858100 129858101 129858101 exon -12 0.825396825396825 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCGTTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 553 236 1 1 1 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00892721344326364 NA FALSE NA 0.03 0.61 . missense_variant MODERATE USP20 HGNC 12619 ENST00000372429 5/26 1 tolerated(0.26) benign(0.005) NA CAT A,G 8.262e-06 9:129858101 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 missense_variant -0.199576 0.73808 0.31287 0.706548 0.918381521543215 0 0.00188749026993717 FALSE 4.07309e-06 ENSE00000927296_019 ENSE00000927296 019 9 132620270 132620439 + 59 63 48 T C 132620393 3078 124 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGCGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858113 129858114 129858114 downstr_intron 2 1.04255319148936 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGCGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 82 674 0.00600200292751106 0.00769901295183837 0.00685050793967472 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA -0.987859028807963 -0.98058552842616 0.972487702766048 0.991072786556736 NA -0.984222278617062 NA TRUE NA 1 7.779 . splice_donor_variant HIGH USP20 HGNC 12619 ENST00000372429 5/25 1 NA HC GTG T,C 8.263e-06 9:129858114 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 splice_donor_variant 4.71545 0.9669 0.96066 0.099367 0.99476495389448 0.847649 0.00188749026993717 FALSE 4.07997e-06 ENSE00000927296_020 ENSE00000927296 020 9 132620270 132620439 + 59 63 48 G T 132620396 3079 127 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGATTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858116 129858117 129858117 downstr_intron 5 1.1063829787234 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGATTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 711 483 0.08486369728609 0.00171209270560719 0.0432878949958486 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA -0.908997334449384 -0.986572448672391 0.972487702766048 0.991072786556736 NA -0.947784891560888 NA TRUE NA 1 6.271 . splice_region_variant&intron_variant LOW USP20 HGNC 12619 ENST00000372429 5/25 1 NA AGT G,T 1.653e-05 9:129858117 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 splice_region_variant 1.752682 0.95933 0.96959 0.099367 0.954123502301768 0.9656 0.00188749026993717 FALSE 1.22448e-05 ENSE00000927296_021 ENSE00000927296 021 9 132620270 132620439 + 59 63 48 G T 132620401 3080 132 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGTTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858121 129858122 129858122 downstr_intron 10 1.21276595744681 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGTTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 99 186 1 1 1 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00892721344326364 NA FALSE NA 0.013 1.439 . intron_variant MODIFIER USP20 HGNC 12619 ENST00000372429 5/25 1 NA GGT G,T 8.264e-06 9:129858122 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 intron_variant 0.530414 0.3241 0.16993 0.099367 0.703305287296089 0.134232 0.00188749026993717 FALSE NA ENSE00000927296_022 ENSE00000927296 022 9 132620270 132620439 + 59 63 48 A G 132620408 3081 139 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGGGAGTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858128 129858129 129858129 downstr_intron 17 1.36170212765957 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGGGAGTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 46 57 1 1 1 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00892721344326364 NA FALSE NA 0 -0.035 . intron_variant MODIFIER USP20 HGNC 12619 ENST00000372429 5/25 1 NA GAG A,G 8.265e-06 9:129858129 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 intron_variant 0.079917 0.16165 0.02917 0.099367 0.51704240537941 0.057007 0.00188749026993717 FALSE 8.17929e-06 ENSE00000927296_023 ENSE00000927296 023 9 132620270 132620439 + 59 63 48 G C 132620411 3082 142 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGACTATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858131 129858132 129858132 downstr_intron 20 1.42553191489362 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGACTATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 58 255 1 0.923248271421604 0.961624135710802 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 -0.0650362699563943 0.972487702766048 0.991072786556736 NA -0.0294486508459343 NA FALSE NA 0 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:129858132 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 intron_variant -0.455156 0.19571 0.07592 0.062308 0.374499230280024 0.057007 0.00188749026993717 FALSE 4.09299e-06 ENSE00000927296_024 ENSE00000927296 024 9 132620270 132620439 + 59 63 48 G A 132620411 3083 142 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAATATGGGCCCTGCAGTTAGATGGCCTGGG 129857990 129858160 129858131 129858132 129858132 downstr_intron 20 1.42553191489362 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAATATGGGCCCTGCAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 272 130 1 1 1 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00613896826452576 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00892721344326364 NA FALSE NA 0 0.011 NA NA NA USP20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP20 NA NA NA ENSG00000136878 ENSE00003500439 intron_variant -0.103808 0.16993 0.07333 0.062308 0.221583307053034 0.057007 0.00188749026993717 FALSE 4.09299e-06 ENSE00000927296_025 ENSE00000927296 025 9 132620270 132620439 + 59 63 48 C G 132620423 3084 154 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGGAGTTAGATGGCCTGGG 129857990 129858160 129858143 129858144 129858144 downstr_intron 32 1.68085106382979 CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGGAGTTAGATGGCCTGGG CTGTGTTGACACCATCCTTTTGGCAAGCTCCAGTCCACTCTCCTTCCCTCTCTTCCCAGGTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCACAGCACCATTCATGCACAGGTGAGTGTGGTGGCTGAGAGTATGGGCCCTGCAGTTAGATGGCCTGGG mutant NA NA NA NA NA 554 228 0.99925478149429 1 0.999627390747145 0.988728532352371 0.956246873179725 0.993861031735474 0.988284541377998 NA NA 0.00539374975881601 0.0117154586220015 0.972487702766048 0.991072786556736 NA 0.00855460419040877 NA FALSE NA 0 -0.074 . intron_variant MODIFIER USP20 HGNC 12619 ENST00000372429 5/25 1 NA GCA C,G 8.267e-06 9:129858144 USP20 HGNC Symbol protein_coding 47140 ENSG00000136878 ENSE00003500439 intron_variant 0.112237 0.19394 0.0693 0.062308 0.399524523447596 0.0569509 0.00188749026993717 FALSE NA ENSE00000927329_000 ENSE00000927329 000 9 132720722 132720891 - 48 63 59 NA NA NA NA NA AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 NA NA NA NA NA NA TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT natural 124 173 0.995173060219958 0.990648394579498 0.992910727399728 6236 8156 0.870437259902294 0.835204464667936 0.852820862285115 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 0 0 0 0 0.992910727399728 0.852820862285115 0 0 0 FALSE FALSE NA NA NA NA NA FNBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FNBP1 NA NA NA ENSG00000187239 ENSE00000927329 NA NA NA NA NA NA NA 0.846297745604282 FALSE NA ENSE00000927329_001 ENSE00000927329 001 9 132720722 132720891 - 48 63 59 A T 132720737 3086 155 AAAAAAAATCTATAATGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958457 129958458 129958458 downstr_intron 33 1.70212765957447 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCATTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 146 329 0.995985689673246 0.999302921126343 0.997644305399795 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.125548429770952 0.164098456458407 0.992910727399728 0.852820862285115 NA 0.14482344311468 NA FALSE NA 0 1.146 . intron_variant MODIFIER FNBP1 HGNC 17069 ENST00000355681 5/15 1 NA AAG A,T 8.416e-06 9:129958458 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 intron_variant 0.145111 0.15664 0.01428 0.139865 0.763169436220867 0.0490229 0.846297745604282 FALSE 6.11516e-06 ENSE00000927329_002 ENSE00000927329 002 9 132720722 132720891 - 48 63 59 A G 132720757 3087 135 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCGTTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958477 129958478 129958478 downstr_intron 13 1.27659574468085 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAACGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 462 140 0.998337378341637 0.966988192272938 0.982662785307288 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.127900118439343 0.131783727605002 0.992910727399728 0.852820862285115 NA 0.129841923022172 NA FALSE NA 0 0.073 . intron_variant MODIFIER FNBP1 HGNC 17069 ENST00000355681 5/15 1 NA CAT A,G 8.3e-06 9:129958478 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 intron_variant 0.08173 0.2095 0.00697 0.139865 0.376606842805466 0.0641646 0.846297745604282 FALSE NA ENSE00000927329_003 ENSE00000927329 003 9 132720722 132720891 - 48 63 59 A G 132720770 3088 122 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACGGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958490 129958491 129958491 exon -1 1 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCCGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 454 941 0.997062698757623 0.996509726306126 0.996786212531875 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.126625438855329 0.16130526163819 0.992910727399728 0.852820862285115 NA 0.14396535024676 NA FALSE NA 0.001 -2.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:129958491 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 splice_region_variant -0.577689 0.16305 0.03503 0.722319 0.618456224234237 0 0.846297745604282 FALSE 0.106813 ENSE00000927329_004 ENSE00000927329 004 9 132720722 132720891 - 48 63 59 A T 132720770 3089 122 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACTGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958490 129958491 129958491 exon -1 1 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCAGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 217 15 0.988521653169721 1 0.99426082658486 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.118084393267426 0.164795535332064 0.992910727399728 0.852820862285115 NA 0.141439964299745 NA FALSE NA 0.001 -2.358 NA NA NA FNBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FNBP1 NA NA NA ENSG00000187239 ENSE00000927329 splice_region_variant -0.703565 0.13063 0.0082 0.722319 0.653596454398398 0 0.846297745604282 FALSE 0 ENSE00000927329_005 ENSE00000927329 005 9 132720722 132720891 - 48 63 59 T C 132720773 3090 119 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGACTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958493 129958494 129958494 exon -4 0.952380952380952 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAGTCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 1270 154 0.999447821934408 0.987232067044611 0.993339944489509 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.129010562032114 0.152027602376675 0.992910727399728 0.852820862285115 NA 0.140519082204394 NA FALSE NA 1 1.325 . synonymous_variant LOW FNBP1 HGNC 17069 ENST00000355681 5/16 1 NA ATT T,C 8.29e-06 9:129958494 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 synonymous_variant -0.154364 0.97049 0.84236 0.722319 0.476011481084842 0 0.846297745604282 FALSE NA ENSE00000927329_006 ENSE00000927329 006 9 132720722 132720891 - 48 63 59 C T 132720786 3091 106 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCTAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958506 129958507 129958507 exon -17 0.746031746031746 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTAGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 49 165 1 0.8317394806319 0.91586974031595 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.129562740097706 -0.00346498403603612 0.992910727399728 0.852820862285115 NA 0.0630488780308349 NA FALSE NA 1 5.439 . stop_gained HIGH FNBP1 HGNC 17069 ENST00000355681 5/16 1 NA HC CCA C,T 8.286e-06 9:129958507 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 stop_gained 14.155632 0.99401 0.988 0.722319 0.995478254119779 0 0.846297745604282 FALSE NA ENSE00000927329_007 ENSE00000927329 007 9 132720722 132720891 - 48 63 59 G A 132720797 3092 95 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCAATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958517 129958518 129958518 exon -28 0.571428571428571 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATTGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 264 1587 0.979652148586806 0.999301524091755 0.98947683633928 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.109214888684512 0.164097059423819 0.992910727399728 0.852820862285115 NA 0.136655974054165 NA FALSE NA 0.954 -0.122 . synonymous_variant LOW FNBP1 HGNC 17069 ENST00000355681 5/16 1 NA CGA G,A 1.657e-05 9:129958518 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 synonymous_variant 1.527085 0.9253 0.29523 0.722319 0.795973204911568 0 0.846297745604282 FALSE NA ENSE00000927329_008 ENSE00000927329 008 9 132720722 132720891 - 48 63 59 C A 132720803 3093 89 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGATGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958523 129958524 129958524 exon 30 0.476190476190476 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCATCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 1390 69 1 1 1 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.129562740097706 0.164795535332064 0.992910727399728 0.852820862285115 NA 0.147179137714885 NA FALSE NA 1 1.345 . missense_variant MODERATE FNBP1 HGNC 17069 ENST00000355681 5/16 1 deleterious(0) possibly_damaging(0.51) NA GCT C,A 8.285e-06 9:129958524 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 missense_variant 3.882081 0.98058 0.9409 0.722319 0.997068612423944 0 0.846297745604282 FALSE NA ENSE00000927329_009 ENSE00000927329 009 9 132720722 132720891 - 48 63 59 T A 132720813 3094 79 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTATACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958533 129958534 129958534 exon 20 0.317460317460317 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTATAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 131 473 1 0.999028616986448 0.999514308493224 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.129562740097706 0.163824152318512 0.992910727399728 0.852820862285115 NA 0.146693446208109 NA FALSE NA 1 4.535 . missense_variant MODERATE FNBP1 HGNC 17069 ENST00000355681 5/16 1 deleterious(0) possibly_damaging(0.789) NA TTT T,A 8.288e-06 9:129958534 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 missense_variant 4.952042 0.99208 0.98131 0.722319 0.9919896432445 0 0.846297745604282 FALSE NA ENSE00000927329_010 ENSE00000927329 010 9 132720722 132720891 - 48 63 59 C T 132720816 3095 76 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTATGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958536 129958537 129958537 exon 17 0.26984126984127 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCATAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 272 176 0.999436142145154 0.965900923528717 0.982668532836935 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.12899888224286 0.130696458860781 0.992910727399728 0.852820862285115 NA 0.12984767055182 NA FALSE NA 1 7.184 . missense_variant MODERATE FNBP1 HGNC 17069 ENST00000355681 5/16 COSM1460463 1 deleterious(0.03) benign(0.131) NA ACG C,T 1.658e-05 9:129958537 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 missense_variant 5.777693 0.99111 0.98814 0.722319 0.997549438468583 0 0.846297745604282 FALSE NA ENSE00000927329_011 ENSE00000927329 011 9 132720722 132720891 - 48 63 59 G C 132720818 3096 74 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGCCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958538 129958539 129958539 exon 15 0.238095238095238 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGGCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 1094 711 0.991373744384365 0.99994645648542 0.995660100434893 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.120936484482071 0.164741991817484 0.992910727399728 0.852820862285115 NA 0.142839238149778 NA FALSE NA 0.056 -1.286 . synonymous_variant LOW FNBP1 HGNC 17069 ENST00000355681 5/16 1 NA GGC G,C 8.29e-06 9:129958539 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 synonymous_variant 0.370463 0.21398 0.03892 0.722319 0.612631712112257 0 0.846297745604282 FALSE 4.58295e-06 ENSE00000927329_012 ENSE00000927329 012 9 132720722 132720891 - 48 63 59 G A 132720824 3097 68 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCATGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958544 129958545 129958545 exon 9 0.142857142857143 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCATGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 77 977 0.956424230751929 0.876023991825436 0.916224111288682 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.0859869708496345 0.0408195271575001 0.992910727399728 0.852820862285115 NA 0.0634032490035673 NA FALSE NA 0.069 -0.587 . synonymous_variant LOW FNBP1 HGNC 17069 ENST00000355681 5/16 rs540680192 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGT G,A 5.804e-05 9:129958545 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 synonymous_variant 1.061852 0.9173 0.07334 0.722319 0.405293753790458 0 0.846297745604282 FALSE NA ENSE00000927329_013 ENSE00000927329 013 9 132720722 132720891 - 48 63 59 A C 132720827 3098 65 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGCAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958547 129958548 129958548 exon 6 0.0952380952380952 TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTGCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 170 75 1 1 1 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.129562740097706 0.164795535332064 0.992910727399728 0.852820862285115 NA 0.147179137714885 NA FALSE NA 0.968 -0.211 . missense_variant MODERATE FNBP1 HGNC 17069 ENST00000355681 5/16 rs372236726 1 tolerated(0.84) benign(0.272) NA C:0 C:0.0001 GAA A,C 8.295e-06 9:129958548 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 missense_variant 0.451061 0.96906 0.70431 0.722319 0.685572208891538 0 0.846297745604282 FALSE 4.69184e-06 ENSE00000927329_014 ENSE00000927329 014 9 132720722 132720891 - 48 63 59 T C 132720863 3099 29 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGCACCCTCTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958583 129958584 129958584 upstr_intron -31 -0.508474576271186 TCCTGGGTTCATAAGAGAAGCAGAGGGTGCTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 694 418 0.998927703774017 1 0.999463851887009 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.128490443871723 0.164795535332064 0.992910727399728 0.852820862285115 NA 0.146642989601894 NA FALSE NA 0 -1.526 . intron_variant MODIFIER FNBP1 HGNC 17069 ENST00000355681 4/15 rs368998023 1 C:0.0010 C:0.0038 C:0 NA C:0 C:0 C:0 C:0.0071 C:0 GTA T,C 0.0005679 9:129958584 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 intron_variant 0.277842 0.10877 0.00909 0.0869 0.553165908222987 0.088125 0.846297745604282 FALSE 0.000576925 ENSE00000927329_015 ENSE00000927329 015 9 132720722 132720891 - 48 63 59 C T 132720869 3100 23 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTTTGCTTCTCTTATGAACCCAGGA 129958442 129958612 129958589 129958590 129958590 upstr_intron -37 -0.610169491525424 TCCTGGGTTCATAAGAGAAGCAAAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 928 292 0.996258912316564 0.964265009888169 0.980261961102367 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.12582165241427 0.129060545220233 0.992910727399728 0.852820862285115 NA 0.127441098817252 NA FALSE NA 0 0.114 rs12115844 intron_variant MODIFIER FNBP1 HGNC 17069 ENST00000355681 4/15 rs12115844 1 T:0.0298 T:0.0371 T:0.0375 NA T:0 T:0.0606 T:0.0133 T:0.0355 T:0.061 TCT C,T 0.034 9:129958590 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 intron_variant 0.242177 0.1777 0.03442 0.0869 0.743692127040142 0.0870264 0.846297745604282 FALSE 0.0478625 ENSE00000927329_016 ENSE00000927329 016 9 132720722 132720891 - 48 63 59 C A 132720872 3101 20 AAAAAAAATCTATAAAGCCGTTTCTTTTGCTGTGCATTGTTCACTTACAGATTCAAGCTGCTTCCAGCAAGTCTCGATGTGCTGCTGTGCTTTACGGCCATCGTGAAAGTTCTGCAAAGGGGAAAACACACTGGTGATTAGTACCCTCTGATTCTCTTATGAACCCAGGA 129958442 129958612 129958592 129958593 129958593 upstr_intron -40 -0.661016949152542 TCCTGGGTTCATAAGAGAATCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT TCCTGGGTTCATAAGAGAAGCAGAGGGTACTAATCACCAGTGTGTTTTCCCCTTTGCAGAACTTTCACGATGGCCGTAAAGCACAGCAGCACATCGAGACTTGCTGGAAGCAGCTTGAATCTGTAAGTGAACAATGCACAGCAAAAGAAACGGCTTTATAGATTTTTTTT mutant NA NA NA NA NA 30 328 0.998620086500825 1 0.999310043250413 0.995173060219958 0.990648394579498 0.870437259902294 0.835204464667936 NA NA 0.128182826598531 0.164795535332064 0.992910727399728 0.852820862285115 NA 0.146489180965297 NA FALSE NA 0 -2.493 . intron_variant MODIFIER FNBP1 HGNC 17069 ENST00000355681 4/15 1 NA GCT C,A 1.676e-05 9:129958593 FNBP1 HGNC Symbol protein_coding 156007 ENSG00000187239 ENSE00000927329 intron_variant 0.203305 0.15519 0.01721 0.0869 0.723271778502973 0.0870264 0.846297745604282 FALSE NA ENSE00000928239_000 ENSE00000928239 000 9 35698566 35698735 - 48 63 59 NA NA NA NA NA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA 35698568 35698738 NA NA NA NA NA NA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA natural 114 189 0.820601796040596 0.85 0.835300898020298 2261 1850 0.800597879797537 0.861214311135539 0.830906095466538 0.820601796040596 0.85 0.800597879797537 0.861214311135539 0 0 0 0 0.835300898020298 0.830906095466538 0 0 0 FALSE FALSE NA NA NA NA NA TLN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLN1 NA NA NA ENSG00000137076 ENSE00003536036 NA NA NA NA NA NA NA 0.999999999998354 TRUE NA ENSE00000928239_004 ENSE00000928239 004 9 35698566 35698735 - 48 63 59 T C 35698657 422 79 CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAGTGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA 35698568 35698738 35698659 35698660 35698660 exon 20 0.317460317460317 CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAGTGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA mutant NA NA NA NA NA 226 19 0.896732344479859 0.905526566932204 0.901129455706032 0.820601796040596 0.85 0.800597879797537 0.861214311135539 NA NA 0.0961344646823218 0.0443122557966654 0.835300898020298 0.830906095466538 NA 0.0702233602394936 NA FALSE NA 1 7.97 . missense_variant MODERATE TLN1 HGNC 11845 ENST00000314888 54/57 1 tolerated(0.47) probably_damaging(0.977) NA ATT T,C 1.647e-05 9:35698660 TLN1 HGNC Symbol protein_coding 35447 ENSG00000137076 ENSE00003536036 missense_variant 3.347473 0.97183 0.97329 0.706548 0.937124381065821 0 0.999999999998354 TRUE 8.12196e-06 ENSE00000928239_009 ENSE00000928239 009 9 35698566 35698735 - 48 63 59 T G 35698707 427 29 CAGCGAGTCTTTGAAGTGAGGAAAATGCCGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA 35698568 35698738 35698709 35698710 35698710 upstr_intron -31 -0.508474576271186 CAGCGAGTCTTTGAAGTGAGGAAAATGCCGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA mutant NA NA NA NA NA 124 50 0.783012372109311 0.8 0.791506186054656 0.820601796040596 0.85 0.800597879797537 0.861214311135539 NA NA -0.0175855076882263 -0.0612143111355389 0.835300898020298 0.830906095466538 NA -0.0393999094118826 NA FALSE NA 0 -0.642 . intron_variant MODIFIER TLN1 HGNC 11845 ENST00000314888 53/56 1 NA CTG T,G 8.236e-06 9:35698710 TLN1 HGNC Symbol protein_coding 35447 ENSG00000137076 ENSE00003536036 intron_variant -0.629739 0.268 0.15386 0.069865 0.596326219628217 0.0550788 0.999999999998354 TRUE 4.0619e-06 ENSE00000928239_010 ENSE00000928239 010 9 35698566 35698735 - 48 63 59 G A 35698708 428 28 CAGCGAGTCTTTGAAGTGAGGAAAATGTAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA 35698568 35698738 35698710 35698711 35698711 upstr_intron -32 -0.525423728813559 CAGCGAGTCTTTGAAGTGAGGAAAATGTAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA mutant NA NA NA NA NA 2027 450 0.798947679271746 0.801203232222057 0.800075455746901 0.820601796040596 0.85 0.800597879797537 0.861214311135539 NA NA -0.00165020052579101 -0.0600110789134821 0.835300898020298 0.830906095466538 NA -0.0308306397196366 NA FALSE NA 0 -0.088 . intron_variant MODIFIER TLN1 HGNC 11845 ENST00000314888 53/56 1 NA TGC G,A 3.295e-05 9:35698711 TLN1 HGNC Symbol protein_coding 35447 ENSG00000137076 ENSE00003536036 intron_variant -0.805069 0.2321 0.09524 0.069865 0.422613595946444 0.0861857 0.999999999998354 TRUE 3.65571e-05 ENSE00000928239_015 ENSE00000928239 015 9 35698566 35698735 - 48 63 59 C G 35698718 433 18 CAGCGAGTCTTTGAAGTCAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA 35698568 35698738 35698720 35698721 35698721 upstr_intron -42 -0.694915254237288 CAGCGAGTCTTTGAAGTCAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA mutant NA NA NA NA NA 364 281 0.873560453066411 0.829511399416119 0.851535926241265 0.820601796040596 0.85 0.800597879797537 0.861214311135539 NA NA 0.0729625732688737 -0.03170291171942 0.835300898020298 0.830906095466538 NA 0.0206298307747269 NA FALSE NA 0 -1.569 . intron_variant MODIFIER TLN1 HGNC 11845 ENST00000314888 53/56 1 NA TCA C,G 8.236e-06 9:35698721 TLN1 HGNC Symbol protein_coding 35447 ENSG00000137076 ENSE00003536036 intron_variant -0.860288 0.26361 0.15464 0.069865 0.570119936253912 0.0485644 0.999999999998354 TRUE 4.06184e-06 ENSE00000928239_BRK ENSE00000928239 BRK 9 35698566 35698735 - 48 63 59 A,G; T,T NA NA NA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACTTGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTCCAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA 35698568 35698738 NA NA NA NA NA NA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACTTGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTCCAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA CAGCGAGTCTTTGAAGTGAGGAAAATGCAGGTCTAAGTAGGCTCTTCTCCTTCCTACAGGTGGGTGCCATTCCAGCCAATGCACTGGACGATGGGCAGTGGTCCCAGGGCCTCATTTCTGCTGTAAGTGTGCAATACCACTAGGTCTCTCTCAGTTTGAGAGACTTGAGA control NA NA NA NA NA 85 126 0 0 0 0.820601796040596 0.85 0.800597879797537 0.861214311135539 NA NA -0.800597879797537 -0.861214311135539 0.835300898020298 0.830906095466538 NA -0.830906095466538 NA TRUE NA NA NA NA NA NA TLN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLN1 NA NA NA ENSG00000137076 ENSE00003536036 NA NA NA NA NA NA NA 0.999999999998354 TRUE NA ENSE00000928743_000 ENSE00000928743 000 6 18197765 18197934 + 53 75 42 NA NA NA NA NA AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 NA NA NA NA NA NA AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG natural 93 52 0.982471852174333 0.986039115889832 0.984255484032083 5703 5403 0.984575384131615 0.869819535357369 0.927197459744492 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 0 0 0 0 0.984255484032083 0.927197459744492 0 0 0 FALSE FALSE NA NA NA NA NA KDM1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDM1B NA NA NA ENSG00000165097 ENSE00000928743 NA NA NA NA NA NA NA 0.815087936736707 FALSE NA ENSE00000928743_001 ENSE00000928743 001 6 18197765 18197934 + 53 75 42 C G 18197786 195 22 AGGACGTTGTTATCATCTGCTGTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197554 18197555 18197555 upstr_intron -32 -0.584905660377358 AGGACGTTGTTATCATCTGCTGTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 351 494 0.841133589108443 0.945588395690724 0.893360992399584 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA -0.143441795023172 0.0757688603333547 0.984255484032083 0.927197459744492 NA -0.0338364673449087 NA FALSE NA 0.056 -0.164 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 rs374909588 1 NA G:0 G:0.0001 TCT C,G 3.295e-05 6:18197555 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 intron_variant 1.404392 0.25471 0.05575 0.099367 0.68160216167527 0.321837 0.815087936736707 FALSE 3.31986e-05 ENSE00000928743_003 ENSE00000928743 003 6 18197765 18197934 + 53 75 42 T C 18197798 197 34 AGGACGTTGTTATCATCTGCTCTAATTGGACTTCTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197566 18197567 18197567 upstr_intron -20 -0.358490566037736 AGGACGTTGTTATCATCTGCTCTAATTGGACTTCTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 365 1023 1 0.868016403637223 0.934008201818612 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0154246158683845 -0.00180313172014568 0.984255484032083 0.927197459744492 NA 0.00681074207411941 NA FALSE NA 0.005 1.296 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA TTT T,C 4.118e-05 6:18197567 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 intron_variant 1.092503 0.29444 0.11305 0.099367 0.755869232566394 0.276464 0.815087936736707 FALSE 3.27046e-05 ENSE00000928743_004 ENSE00000928743 004 6 18197765 18197934 + 53 75 42 T C 18197799 198 35 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTCGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197567 18197568 18197568 upstr_intron -19 -0.339622641509434 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTCGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 285 80 1 0.971271512142616 0.985635756071308 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0154246158683845 0.101451976785247 0.984255484032083 0.927197459744492 NA 0.0584382963268156 NA FALSE NA 0.002 2.601 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:18197568 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 intron_variant 1.317279 0.41058 0.33947 0.099367 0.785661864768669 0.274634 0.815087936736707 FALSE 0.00055148 ENSE00000928743_005 ENSE00000928743 005 6 18197765 18197934 + 53 75 42 T G 18197799 199 35 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTGGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197567 18197568 18197568 upstr_intron -19 -0.339622641509434 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTGGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 502 2035 0.795761478286271 0.79914130405542 0.797451391170846 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA -0.188813905845345 -0.0706782313019487 0.984255484032083 0.927197459744492 NA -0.129746068573647 NA FALSE NA 0.002 2.601 NA NA NA KDM1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDM1B NA NA NA ENSG00000165097 ENSE00000928743 intron_variant 1.444093 0.38168 0.31518 0.099367 0.758442962758179 0.274634 0.815087936736707 FALSE 3.67653e-05 ENSE00000928743_006 ENSE00000928743 006 6 18197765 18197934 + 53 75 42 G A 18197817 200 53 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAAAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197585 18197586 18197586 upstr_intron -1 0 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAAAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 117 277 0 0.00299039904031876 0.00149519952015938 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA -0.984575384131615 -0.86682913631705 0.984255484032083 0.927197459744492 NA -0.925702260224333 NA TRUE NA 1 6.809 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 COSM1076381 1 NA AGA G,A 8.236e-06 6:18197586 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 splice_acceptor_variant 5.513621 0.98925 0.96821 0.099367 0.995249273044025 0.984474 0.815087936736707 FALSE 4.06683e-06 ENSE00000928743_007 ENSE00000928743 007 6 18197765 18197934 + 53 75 42 T C 18197821 201 57 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAACCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197589 18197590 18197590 exon 4 0.0533333333333333 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAACCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 148 517 0.98770397584614 0.965574589140958 0.976639282493549 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.00312859171452495 0.0957550537835887 0.984255484032083 0.927197459744492 NA 0.0494418227490568 NA FALSE NA 1 3.242 rs138145635 intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 rs138145635 1 C:0.0008 C:0 C:0 NA C:0 C:0.004 C:0 C:0.0005 C:0.0044 ATC T,C 0.003253 6:18197590 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 missense_variant 2.974471 0.98228 0.98271 0.6512 0.995042822833156 0 0.815087936736707 FALSE 0.00324789 ENSE00000928743_008 ENSE00000928743 008 6 18197765 18197934 + 53 75 42 C T 18197829 202 65 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATTATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197597 18197598 18197598 exon 12 0.16 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATTATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 692 443 0.819527290437127 0.807423897859164 0.813475594148146 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA -0.165048093694488 -0.0623956374982052 0.984255484032083 0.927197459744492 NA -0.113721865596347 NA FALSE NA 0.007 -0.59 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA TCA C,T 8.236e-06 6:18197598 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 synonymous_variant 1.429385 0.21273 0.03396 0.6512 0.69003000778083 0 0.815087936736707 FALSE 4.06336e-06 ENSE00000928743_009 ENSE00000928743 009 6 18197765 18197934 + 53 75 42 T C 18197832 203 68 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATCATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197600 18197601 18197601 exon 15 0.2 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATCATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 531 472 0.98478372801221 0.999189613906854 0.991986670959532 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.00020834388059443 0.129370078549485 0.984255484032083 0.927197459744492 NA 0.0647892112150397 NA FALSE NA 0.878 0.005 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA TTA T,C 8.236e-06 6:18197601 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 synonymous_variant 1.018423 0.2275 0.52995 0.615465 0.646400217711448 0 0.815087936736707 FALSE 4.06299e-06 ENSE00000928743_010 ENSE00000928743 010 6 18197765 18197934 + 53 75 42 A G 18197833 204 69 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTGTCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197601 18197602 18197602 exon 16 0.213333333333333 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTGTCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 159 1424 1 0.907856408412511 0.953928204206256 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0154246158683845 0.0380368730551424 0.984255484032083 0.927197459744492 NA 0.0267307444617634 NA FALSE NA 0.926 0.814 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA TAT A,G 8.236e-06 6:18197602 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 missense_variant -0.870935 0.20424 0.24238 0.615465 0.37077774688668 0 0.815087936736707 FALSE 4.06306e-06 ENSE00000928743_011 ENSE00000928743 011 6 18197765 18197934 + 53 75 42 C T 18197835 205 71 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATTGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197603 18197604 18197604 exon 18 0.24 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATTGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 85 641 0.961397900417233 0.955682932320545 0.958540416368889 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA -0.0231774837143828 0.0858633969631758 0.984255484032083 0.927197459744492 NA 0.0313429566243965 NA FALSE NA 0.964 0.016 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA TCG C,T 8.236e-06 6:18197604 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 synonymous_variant 2.192072 0.27076 0.0838 0.615465 0.677027017519206 0 0.815087936736707 FALSE 8.12717e-06 ENSE00000928743_012 ENSE00000928743 012 6 18197765 18197934 + 53 75 42 G T 18197838 206 74 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGTGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197606 18197607 18197607 exon 21 0.28 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGTGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 488 67 1 1 1 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0154246158683845 0.130180464642631 0.984255484032083 0.927197459744492 NA 0.0728025402555078 NA FALSE NA 1 0.606 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA GGG G,T 8.236e-06 6:18197607 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 synonymous_variant 0.863402 0.97067 0.85762 0.6512 0.674283797867166 0 0.815087936736707 FALSE 4.06279e-06 ENSE00000928743_013 ENSE00000928743 013 6 18197765 18197934 + 53 75 42 G T 18197839 207 75 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGTCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197607 18197608 18197608 exon 22 0.293333333333333 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGTCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 883 1014 0.999953384487095 0.987998931997094 0.993976158242094 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0153780003554791 0.118179396639725 0.984255484032083 0.927197459744492 NA 0.0667786984976018 NA FALSE NA 1 7.32 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA GGC G,T 2.471e-05 6:18197608 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 missense_variant 3.7009 0.9961 0.99491 0.6512 0.997400117373387 0 0.815087936736707 FALSE 1.2189e-05 ENSE00000928743_014 ENSE00000928743 014 6 18197765 18197934 + 53 75 42 C G 18197845 208 81 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTGCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197613 18197614 18197614 exon 28 0.373333333333333 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTGCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 62 117 1 1 1 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0154246158683845 0.130180464642631 0.984255484032083 0.927197459744492 NA 0.0728025402555078 NA FALSE NA 1 2.132 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 rs569055400 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TCC C,G 8.236e-06 6:18197614 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 missense_variant 2.196529 0.98588 0.89113 0.6512 0.899566740560357 0 0.815087936736707 FALSE 4.0627e-06 ENSE00000928743_016 ENSE00000928743 016 6 18197765 18197934 + 53 75 42 C T 18197858 210 94 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGTAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197626 18197627 18197627 exon -35 0.546666666666667 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGTAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 133 2486 1 0.993573701454131 0.996786850727066 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0154246158683845 0.123754166096762 0.984255484032083 0.927197459744492 NA 0.0695893909825734 NA FALSE NA 1 7.269 rs143164118 intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 rs143164118 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCA C,T 8.236e-06 6:18197627 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 missense_variant 4.554496 0.99456 0.99488 0.706548 0.999071965442747 0 0.815087936736707 FALSE NA ENSE00000928743_017 ENSE00000928743 017 6 18197765 18197934 + 53 75 42 G A 18197867 211 103 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAAGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197635 18197636 18197636 exon -26 0.666666666666667 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAAGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 559 455 0.997469709850585 1 0.998734854925292 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0128943257189694 0.130180464642631 0.984255484032083 0.927197459744492 NA 0.0715373951808002 NA FALSE NA 1 5.103 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA AGG G,A 8.236e-06 6:18197636 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 missense_variant 2.578166 0.98501 0.9744 0.706548 0.9911571066896 0 0.815087936736707 FALSE 8.1244e-06 ENSE00000928743_018 ENSE00000928743 018 6 18197765 18197934 + 53 75 42 G A 18197874 212 110 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTACATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197642 18197643 18197643 exon -19 0.76 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTACATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 135 1063 0.984971243755231 0.999234490061389 0.99210286690831 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.000395859623615658 0.12941495470402 0.984255484032083 0.927197459744492 NA 0.0649054071638179 NA FALSE NA 0.795 -0.125 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA TGC G,A 3.295e-05 6:18197643 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 synonymous_variant 1.145494 0.9609 0.74853 0.706548 0.759199096865109 0 0.815087936736707 FALSE 8.12592e-06 ENSE00000928743_021 ENSE00000928743 021 6 18197765 18197934 + 53 75 42 G A 18197903 215 139 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTAGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197671 18197672 18197672 downstr_intron 11 1.26829268292683 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTAGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 376 161 0.98484434563902 0.998086272020722 0.991465308829871 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.000268961507404297 0.128266736663353 0.984255484032083 0.927197459744492 NA 0.0642678490853788 NA FALSE NA 0 -1.246 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 rs375697909 1 NA A:0 A:0.0002 TGG G,A 4.118e-05 6:18197672 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 intron_variant 0.178652 0.16953 0.03992 0.099367 0.643995339309771 0.0946271 0.815087936736707 FALSE 2.03414e-05 ENSE00000928743_022 ENSE00000928743 022 6 18197765 18197934 + 53 75 42 G A 18197906 216 142 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGAACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197674 18197675 18197675 downstr_intron 14 1.34146341463415 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGAACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 271 190 0.994871105935332 0.998331571749038 0.996601338842185 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0102957218037169 0.128512036391669 0.984255484032083 0.927197459744492 NA 0.0694038790976927 NA FALSE NA 0 -0.548 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA GGA G,A 8.236e-06 6:18197675 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 intron_variant -0.077535 0.1142 0.01897 0.099367 0.697954203149211 0.0946271 0.815087936736707 FALSE 4.07e-06 ENSE00000928743_023 ENSE00000928743 023 6 18197765 18197934 + 53 75 42 G C 18197912 217 148 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGCAGTTAGAACAGATGGTTGACTG 18197533 18197703 18197680 18197681 18197681 downstr_intron 20 1.48780487804878 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGCAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 436 539 0.997808617913042 0.999575234379398 0.99869192614622 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0132332337814269 0.129755699022029 0.984255484032083 0.927197459744492 NA 0.0714944664017281 NA FALSE NA 0 -0.493 . intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 1 NA GGA G,C 3.295e-05 6:18197681 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 intron_variant -0.553074 0.1592 0.04753 0.099367 0.515126954189182 0.0946271 0.815087936736707 FALSE 2.07317e-05 ENSE00000928743_024 ENSE00000928743 024 6 18197765 18197934 + 53 75 42 T G 18197915 218 151 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGGTAGAACAGATGGTTGACTG 18197533 18197703 18197683 18197684 18197684 downstr_intron 23 1.5609756097561 AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGGTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG mutant NA NA NA NA NA 50 594 1 1 1 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA 0.0154246158683845 0.130180464642631 0.984255484032083 0.927197459744492 NA 0.0728025402555078 NA FALSE NA 0.001 0.073 rs113858549 intron_variant MODIFIER KDM1B HGNC 21577 ENST00000546309 1/3 rs113858549 1 G:0.0048 G:0.0174 G:0.0014 NA G:0 G:0 G:0 G:0.007 G:0 GTT T,G 0.0008154 6:18197684 KDM1B HGNC Symbol protein_coding 68524 ENSG00000165097 ENSE00000928743 intron_variant 0.466611 0.12635 0.00072 0.099367 0.713088686373017 0.0946271 0.815087936736707 FALSE 0.000797528 ENSE00000928743_BRK ENSE00000928743 BRK 6 18197765 18197934 + 53 75 42 A,G; T,T NA NA NA AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTATTAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGCCAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG 18197533 18197703 NA NA NA NA NA NA AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTATTAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGCCAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG AGGACGTTGTTATCATCTGCTCTAATTGGACTTTTGTTTCTTTTCTTTTTAAGAAATCAGTCATCATTATCGGGGCTGGTCCAGCAGGATTAGCAGCTGCTAGGCAACTGCATAACTTTGGAATTAAGGTAGGATTTTGGGGACATGGAGTTAGAACAGATGGTTGACTG control NA NA NA NA NA 185 1226 0 0 0 0.982471852174333 0.986039115889832 0.984575384131615 0.869819535357369 NA NA -0.984575384131615 -0.869819535357369 0.984255484032083 0.927197459744492 NA -0.927197459744492 NA TRUE NA NA NA NA NA NA KDM1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDM1B NA NA NA ENSG00000165097 ENSE00000928743 NA NA NA NA NA NA NA 0.815087936736707 FALSE NA ENSE00000928765_000 ENSE00000928765 000 6 18463477 18463646 + 45 90 35 NA NA NA NA NA TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 NA NA NA NA NA NA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA natural NA NA NA NA NA 2131 774 0.993887476330862 0.99299195224627 0.993439714288566 NA NA 0.993887476330862 0.99299195224627 NA NA 0 0 NA 0.993439714288566 NA 0 NA FALSE NA NA NA NA NA NA RNF144B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF144B NA NA NA ENSG00000137393 ENSE00000928765 NA NA NA NA NA NA NA 0.0276377158382251 FALSE NA ENSE00000928765_002 ENSE00000928765 002 6 18463477 18463646 + 45 90 35 A G 18463491 220 15 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAACATGCAGTTTTAAAT 18463245 18463415 18463259 18463260 18463260 upstr_intron -31 -0.666666666666667 ATTTAAAACTGCATGTTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 84 292 0.986976452692558 1 0.993488226346279 NA NA 0.993887476330862 0.99299195224627 NA NA -0.00691102363830409 0.0070080477537301 NA 0.993439714288566 NA 4.85120577130016e-05 NA FALSE NA 0 -0.432 . intron_variant MODIFIER RNF144B HGNC 21578 ENST00000429054 3/4 1 NA TAT A,G 8.237e-06 6:18463260 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 intron_variant 0.103844 0.13965 0.00358 0.069865 0.745651316747769 0.0666469 0.0276377158382251 FALSE 8.15448e-06 ENSE00000928765_004 ENSE00000928765 004 6 18463477 18463646 + 45 90 35 A G 18463505 222 29 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGACTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463273 18463274 18463274 upstr_intron -17 -0.355555555555556 ATTTAAAACTGCATATTTACTGAAATCAGTCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 705 136 0.905888577328485 1 0.952944288664243 NA NA 0.993887476330862 0.99299195224627 NA NA -0.0879988990023766 0.0070080477537301 NA 0.993439714288566 NA -0.0404954256243232 NA FALSE NA 0 -0.406 . intron_variant MODIFIER RNF144B HGNC 21578 ENST00000429054 3/4 1 NA AAT A,G 8.237e-06 6:18463274 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 intron_variant -0.039091 0.24754 0.08901 0.069865 0.76577470382332 0.112 0.0276377158382251 FALSE 4.06894e-06 ENSE00000928765_005 ENSE00000928765 005 6 18463477 18463646 + 45 90 35 C T 18463519 223 43 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTAAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463287 18463288 18463288 upstr_intron -3 -0.0444444444444444 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTTAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 1106 124 0.957524881832257 0.884996544404061 0.921260713118159 NA NA 0.993887476330862 0.99299195224627 NA NA -0.0363625944986046 -0.107995407842209 NA 0.993439714288566 NA -0.0721790011704065 NA FALSE NA 1 4.591 . splice_region_variant&intron_variant LOW RNF144B HGNC 21578 ENST00000429054 3/4 1 NA TCA C,T 3.295e-05 6:18463288 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 splice_region_variant 2.195689 0.99037 0.9636 0.069865 0.960224047552593 0.989831 0.0276377158382251 FALSE 1.62703e-05 ENSE00000928765_006 ENSE00000928765 006 6 18463477 18463646 + 45 90 35 A G 18463547 224 71 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGCCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463315 18463316 18463316 exon 26 0.288888888888889 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGGCAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 802 38 0.9962445996941 1 0.99812229984705 NA NA 0.993887476330862 0.99299195224627 NA NA 0.00235712336323801 0.0070080477537301 NA 0.993439714288566 NA 0.00468258555848405 NA FALSE NA 1 8.881 . missense_variant MODERATE RNF144B HGNC 21578 ENST00000429054 4/5 1 probably_damaging(0.999) NA GAC A,G 8.236e-06 6:18463316 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 missense_variant 6.764772 0.99258 0.98973 0.67177 0.997967092799001 0 0.0276377158382251 FALSE 4.06491e-06 ENSE00000928765_007 ENSE00000928765 007 6 18463477 18463646 + 45 90 35 A G 18463550 225 74 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTCTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463318 18463319 18463319 exon 29 0.322222222222222 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAGAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 47 216 1 1 1 NA NA 0.993887476330862 0.99299195224627 NA NA 0.00611252366913839 0.0070080477537301 NA 0.993439714288566 NA 0.00656028571143424 NA FALSE NA 1 5.878 . missense_variant MODERATE RNF144B HGNC 21578 ENST00000429054 4/5 1 benign(0.246) NA AAA A,G 8.236e-06 6:18463319 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 missense_variant 3.925714 0.98365 0.94645 0.67177 0.996249200153926 0 0.0276377158382251 FALSE 4.06461e-06 ENSE00000928765_008 ENSE00000928765 008 6 18463477 18463646 + 45 90 35 G A 18463553 226 77 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCTCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463321 18463322 18463322 exon 32 0.355555555555556 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGAGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 213 1004 0.997855115936782 0.998272538259988 0.998063827098385 NA NA 0.993887476330862 0.99299195224627 NA NA 0.00396763960592084 0.00528058601371761 NA 0.993439714288566 NA 0.00462411280981923 NA FALSE NA 1 9.39 . missense_variant MODERATE RNF144B HGNC 21578 ENST00000429054 4/5 rs200913145 1 probably_damaging(1) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGG G,A 8.236e-06 6:18463322 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 missense_variant 6.887869 0.99448 0.99131 0.67177 0.99778829106364 0 0.0276377158382251 FALSE 8.12949e-06 ENSE00000928765_009 ENSE00000928765 009 6 18463477 18463646 + 45 90 35 G A 18463554 227 78 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGTCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463322 18463323 18463323 exon 33 0.366666666666667 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGACCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 360 99 0.998272545955761 1 0.999136272977881 NA NA 0.993887476330862 0.99299195224627 NA NA 0.00438506962489982 0.0070080477537301 NA 0.993439714288566 NA 0.00569655868931496 NA FALSE NA 0.989 0.221 . synonymous_variant LOW RNF144B HGNC 21578 ENST00000429054 4/5 rs200055272 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGC G,A 2.471e-05 6:18463323 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 synonymous_variant 1.15417 0.94287 0.76957 0.67177 0.663907996840063 0 0.0276377158382251 FALSE 1.21946e-05 ENSE00000928765_010 ENSE00000928765 010 6 18463477 18463646 + 45 90 35 C T 18463556 228 80 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATAGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463324 18463325 18463325 exon 35 0.388888888888889 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCTATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 921 21 0.872373561158082 1 0.936186780579041 NA NA 0.993887476330862 0.99299195224627 NA NA -0.12151391517278 0.0070080477537301 NA 0.993439714288566 NA -0.0572529337095249 NA FALSE NA 1 7.421 . missense_variant MODERATE RNF144B HGNC 21578 ENST00000429054 4/5 1 probably_damaging(1) NA CCA C,T 8.236e-06 6:18463325 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 missense_variant 7.34182 0.99433 0.98431 0.67177 0.997558344783451 0 0.0276377158382251 FALSE 4.06438e-06 ENSE00000928765_012 ENSE00000928765 012 6 18463477 18463646 + 45 90 35 A G 18463565 230 89 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTACTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463333 18463334 18463334 exon 44 0.488888888888889 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAGTAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 410 124 0.981738321231118 0.95 0.965869160615559 NA NA 0.993887476330862 0.99299195224627 NA NA -0.0121491550997431 -0.0429919522462699 NA 0.993439714288566 NA -0.0275705536730065 NA FALSE NA 1 8.881 . missense_variant MODERATE RNF144B HGNC 21578 ENST00000429054 4/5 1 probably_damaging(0.994) NA AAT A,G 4.942e-05 6:18463334 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 missense_variant 5.644675 0.99258 0.98973 0.67177 0.99880116596065 0 0.0276377158382251 FALSE 4.87753e-05 ENSE00000928765_015 ENSE00000928765 015 6 18463477 18463646 + 45 90 35 A T 18463581 233 105 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTAGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463349 18463350 18463350 exon -31 0.666666666666667 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCTAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 147 313 1 0.813542345574817 0.906771172787409 NA NA 0.993887476330862 0.99299195224627 NA NA 0.00611252366913839 -0.179449606671453 NA 0.993439714288566 NA -0.0866685415011572 NA FALSE NA 0.005 -0.781 . synonymous_variant LOW RNF144B HGNC 21578 ENST00000429054 4/5 1 NA CAA A,T 8.237e-06 6:18463350 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 synonymous_variant -0.202787 0.6104 0.09675 0.67177 0.62017351790619 0 0.0276377158382251 FALSE 4.06494e-06 ENSE00000928765_016 ENSE00000928765 016 6 18463477 18463646 + 45 90 35 A T 18463594 234 118 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACAACACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463362 18463363 18463363 exon -18 0.811111111111111 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGTTGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 527 23 0.994647592719173 1 0.997323796359587 NA NA 0.993887476330862 0.99299195224627 NA NA 0.000760116388311749 0.0070080477537301 NA 0.993439714288566 NA 0.00388408207102092 NA FALSE NA 1 8.881 . missense_variant MODERATE RNF144B HGNC 21578 ENST00000429054 4/5 1 benign(0.028) NA GAT A,T 1.647e-05 6:18463363 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 missense_variant 2.69491 0.99259 0.98976 0.67177 0.89727007344262 0 0.0276377158382251 FALSE 8.13173e-06 ENSE00000928765_017 ENSE00000928765 017 6 18463477 18463646 + 45 90 35 G A 18463604 235 128 TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTACCTGTGTTTGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463372 18463373 18463373 exon -8 0.922222222222222 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCAAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 62 466 1 1 1 NA NA 0.993887476330862 0.99299195224627 NA NA 0.00611252366913839 0.0070080477537301 NA 0.993439714288566 NA 0.00656028571143424 NA FALSE NA 1 9.39 . missense_variant MODERATE RNF144B HGNC 21578 ENST00000429054 4/5 1 probably_damaging(0.996) NA CGA G,A 2.471e-05 6:18463373 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 missense_variant 8.053395 0.99448 0.99131 0.706548 0.999578203189206 0 0.0276377158382251 FALSE 2.03417e-05 ENSE00000928765_018 ENSE00000928765 018 6 18463477 18463646 + 45 90 35 G T 18463632 236 156 TGGTTTATGTCACGATCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463400 18463401 18463401 downstr_intron 21 1.61764705882353 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGATCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 316 424 0.995114564066346 0.999820285013822 0.997467424540084 NA NA 0.993887476330862 0.99299195224627 NA NA 0.00122708773548441 0.00682833276755235 NA 0.993439714288566 NA 0.00402771025151838 NA FALSE NA 0 -0.155 . intron_variant MODIFIER RNF144B HGNC 21578 ENST00000429054 4/4 rs573232200 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 AGC G,T 0.0001895 6:18463401 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 intron_variant 0.083524 0.1898 0.08082 0.062308 0.811288465097842 0.152421 0.0276377158382251 FALSE 0.000143188 ENSE00000928765_019 ENSE00000928765 019 6 18463477 18463646 + 45 90 35 C T 18463633 237 157 TGGTTTATGTCACACTCCCTATAAGGTCAGGGTACCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTCTGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 18463401 18463402 18463402 downstr_intron 22 1.64705882352941 ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGTGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA mutant NA NA NA NA NA 77 292 1 1 1 NA NA 0.993887476330862 0.99299195224627 NA NA 0.00611252366913839 0.0070080477537301 NA 0.993439714288566 NA 0.00656028571143424 NA FALSE NA 0 -0.512 rs9371061 intron_variant MODIFIER RNF144B HGNC 21578 ENST00000429054 4/4 rs9371061 1 T:0.2292 T:0.354 T:0.2046 NA T:0.1677 T:0.2177 T:0.1534 T:0.3296 T:0.218 GCG C,T 0.219 6:18463402 RNF144B HGNC Symbol protein_coding 81524 ENSG00000137393 ENSE00000928765 intron_variant 0.40698 0.14745 0.03172 0.062308 0.797974555813057 0.152421 0.0276377158382251 FALSE 0.222267 ENSE00000928765_BRK ENSE00000928765 BRK 6 18463477 18463646 + 45 90 35 A,G; T,T NA NA NA TGGTTTATGTCACGCTCCCTATAAGGTCAGGGTGGCTGTGTTCGGTTCCACATCACTGATGCTCTTGAGTGGCCAAGTTTATTCCTGCATGGCCCTTTGTCATAATGTCTGAGGAAAATGTCATTAAGAAAAATAAAAAGATTGATTTCAGTAAATATGCAGTTTTAAAT 18463245 18463415 NA NA NA NA NA NA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCTTAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGCCACCCTGACCTTATAGGGAGCGTGACATAAACCA ATTTAAAACTGCATATTTACTGAAATCAATCTTTTTATTTTTCAGAATGACATTTTCCTCAGACATTATGACAAAGGGCCATGCAGGAATAAACTTGGCCACTCAAGAGCATCAGTGATGTGGAACCGAACACAGGTACCCTGACCTTATAGGGAGCGTGACATAAACCA control 57 24 0 0 0 NA NA NA NA NA NA NA 0.993887476330862 0.99299195224627 NA NA NA NA NA 0.993439714288566 NA NA NA NA NA NA NA NA NA NA RNF144B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF144B NA NA NA ENSG00000137393 ENSE00000928765 NA NA NA NA NA NA NA 0.0276377158382251 FALSE NA ENSE00000930467_000 ENSE00000930467 000 11 110106791 110106960 - 33 93 44 NA NA NA NA NA TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACAATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 NA NA NA NA NA NA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA natural 19 35 0.998495478962394 1 0.999247739481197 4904 2470 0.951184244920779 0.979603646432581 0.96539394567668 0.998495478962394 1 0.951184244920779 0.979603646432581 0 0 0 0 0.999247739481197 0.96539394567668 0 0 0 FALSE FALSE NA NA NA NA NA RDX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RDX NA NA NA ENSG00000137710 ENSE00003461011 NA NA NA NA NA NA NA 0.998954589256721 TRUE NA ENSE00000930467_004 ENSE00000930467 004 11 110106791 110106960 - 33 93 44 A C 110106815 2400 146 TCAATAAAAGCTAGTAAATGAATACATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACAATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236089 110236090 110236090 downstr_intron 9 1.28125 CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATGTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 168 211 0.992672361884851 0.986263193645061 0.989467777764956 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.0414881169640724 0.00665954721247985 0.999247739481197 0.96539394567668 NA 0.0240738320882761 NA FALSE NA 0 -0.083 . intron_variant MODIFIER RDX HGNC 9944 ENST00000343115 12/13 1 NA AAA A,C 8.237e-06 11:110236090 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 intron_variant 0.510412 0.29826 0.17365 0.099367 0.686722887797683 0.233885 0.998954589256721 TRUE 4.06659e-06 ENSE00000930467_005 ENSE00000930467 005 11 110106791 110106960 - 33 93 44 T C 110106828 2401 133 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGCGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACAATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236102 110236103 110236103 exon -5 0.956989247311828 CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACGCAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 963 95 1 0.998331571749038 0.999165785874519 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.0488157550792212 0.0187279253164565 0.999247739481197 0.96539394567668 NA 0.0337718401978389 NA FALSE NA 1 7.999 . missense_variant MODERATE RDX HGNC 9944 ENST00000343115 12/14 1 tolerated(0.56) benign(0.005) NA GTG T,C 8.237e-06 11:110236103 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 missense_variant 0.657046 0.99126 0.98975 0.732398 0.903453714565534 0 0.998954589256721 TRUE 4.06448e-06 ENSE00000930467_008 ENSE00000930467 008 11 110106791 110106960 - 33 93 44 C T 110106854 2404 107 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCTTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACAATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236128 110236129 110236129 exon -31 0.67741935483871 CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAAGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 440 56 1 0.951166525913773 0.975583262956887 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.0488157550792212 -0.0284371205188076 0.999247739481197 0.96539394567668 NA 0.0101893172802068 NA FALSE NA 1 0.982 . synonymous_variant LOW RDX HGNC 9944 ENST00000343115 12/14 rs201330503 1 NA CCT C,T 2.471e-05 11:110236129 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 synonymous_variant 1.956524 0.98004 0.83472 0.732398 0.658578255942584 0 0.998954589256721 TRUE 6.09464e-05 ENSE00000930467_013 ENSE00000930467 013 11 110106791 110106960 - 33 93 44 T G 110106881 2409 80 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGGGCAATCTTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACAATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236155 110236156 110236156 exon 36 0.387096774193548 CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCCCTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 200 463 1 1 1 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.0488157550792212 0.020396353567419 0.999247739481197 0.96539394567668 NA 0.0346060543233201 NA FALSE NA 1 1.054 . synonymous_variant LOW RDX HGNC 9944 ENST00000343115 12/14 1 NA GTG T,G 8.237e-06 11:110236156 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 synonymous_variant 1.21282 0.97387 0.87224 0.732398 0.67377063471879 0 0.998954589256721 TRUE 4.06253e-06 ENSE00000930467_015 ENSE00000930467 015 11 110106791 110106960 - 33 93 44 T C 110106888 2411 73 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCCTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACAATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236162 110236163 110236163 exon 29 0.311827956989247 CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAGGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 899 499 0.996097716410725 0.99922291022138 0.997660313316052 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.044913471489946 0.0196192637887991 0.999247739481197 0.96539394567668 NA 0.0322663676393725 NA FALSE NA 1 3.348 . missense_variant MODERATE RDX HGNC 9944 ENST00000343115 12/14 1 tolerated(0.49) benign(0.042) NA CTT T,C 8.237e-06 11:110236163 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 missense_variant 1.82607 0.98537 0.94702 0.732398 0.993996812551873 0 0.998954589256721 TRUE 4.06246e-06 ENSE00000930467_017 ENSE00000930467 017 11 110106791 110106960 - 33 93 44 A G 110106902 2413 59 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCGGCAAGTTCTGCTGCCTAAAGTAAACAATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236176 110236177 110236177 exon 15 0.161290322580645 CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCCGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 957 1171 0.997082985913775 0.989559262734827 0.993321124324301 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.0458987409929961 0.0099556163022464 0.999247739481197 0.96539394567668 NA 0.0279271786476212 NA FALSE NA 0.087 -0.238 . synonymous_variant LOW RDX HGNC 9944 ENST00000343115 12/14 1 NA CAG A,G 8.237e-06 11:110236177 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 synonymous_variant 0.738392 0.96165 0.35987 0.741895 0.595812446664129 0 0.998954589256721 TRUE 8.12651e-06 ENSE00000930467_018 ENSE00000930467 018 11 110106791 110106960 - 33 93 44 T C 110106908 2414 53 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCAGCAAGCTCTGCTGCCTAAAGTAAACAATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236182 110236183 110236183 exon 9 0.0967741935483871 CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAGCTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 660 1902 0.999767739689596 0.995882923635419 0.997825331662507 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.0485834947688175 0.0162792772028376 0.999247739481197 0.96539394567668 NA 0.0324313859858276 NA FALSE NA 1 1.266 . synonymous_variant LOW RDX HGNC 9944 ENST00000343115 12/14 1 NA GTT T,C 3.295e-05 11:110236183 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 synonymous_variant 0.397959 0.9826 0.91139 0.741895 0.654727444917709 0 0.998954589256721 TRUE 2.43835e-05 ENSE00000930467_021 ENSE00000930467 021 11 110106791 110106960 - 33 93 44 A G 110106928 2417 33 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACGATATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236202 110236203 110236203 upstr_intron -12 -0.25 CAAAATATGTTATTTTAATTTTGGAATTATATCGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 34 148 0.995461806296214 1 0.997730903148107 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.044277561375435 0.020396353567419 0.999247739481197 0.96539394567668 NA 0.032336957471427 NA FALSE NA 0.026 1.857 . intron_variant MODIFIER RDX HGNC 9944 ENST00000343115 11/13 1 NA CAA A,G 8.237e-06 11:110236203 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 non_coding_transcript_exon_variant 0.221851 0.34382 0.15137 0.266198 0.774636311912117 0.170069 0.998954589256721 TRUE 8.14531e-06 ENSE00000930467_022 ENSE00000930467 022 11 110106791 110106960 - 33 93 44 T C 110106930 2418 31 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACAACATAATTCCAAAATTAAAATAACATATTTTG 110236065 110236235 110236204 110236205 110236205 upstr_intron -14 -0.295454545454545 CAAAATATGTTATTTTAATTTTGGAATTATGTTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 455 235 1 1 1 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.0488157550792212 0.020396353567419 0.999247739481197 0.96539394567668 NA 0.0346060543233201 NA FALSE NA 0 -2.253 . intron_variant MODIFIER RDX HGNC 9944 ENST00000343115 11/13 1 NA ATA T,C 8.237e-06 11:110236205 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 non_coding_transcript_exon_variant -0.224609 0.21626 0.04401 0.266198 0.444780449674759 0.158559 0.998954589256721 TRUE 8.14717e-06 ENSE00000930467_024 ENSE00000930467 024 11 110106791 110106960 - 33 93 44 T A 110106936 2420 25 TCAATAAAAGCTAGTAAATGAATAAATGATTACTTTGTGTTGCCACTCAGTAGCTTCCTCTTCCTTTTTCTTCTTGGCTTCCTCTAGAAGTGCAATCTTGGCAGTGAATTCAGCAAGTTCTGCTGCCTAAAGTAAACAATATAATACCAAAATTAAAATAACATATTTTG 110236065 110236235 110236210 110236211 110236211 upstr_intron -20 -0.431818181818182 CAAAATATGTTATTTTAATTTTGGTATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA CAAAATATGTTATTTTAATTTTGGAATTATATTGTTTACTTTAGGCAGCAGAACTTGCTGAATTCACTGCCAAGATTGCACTTCTAGAGGAAGCCAAGAAGAAAAAGGAAGAGGAAGCTACTGAGTGGCAACACAAAGTAATCATTTATTCATTTACTAGCTTTTATTGA mutant NA NA NA NA NA 34 402 1 0.998083863135009 0.999041931567505 0.998495478962394 1 0.951184244920779 0.979603646432581 NA NA 0.0488157550792212 0.0184802167024283 0.999247739481197 0.96539394567668 NA 0.0336479858908247 NA FALSE NA 0.31 0.752 . intron_variant MODIFIER RDX HGNC 9944 ENST00000343115 11/13 1 NA TTC T,A 5.767e-05 11:110236211 RDX HGNC Symbol protein_coding 432427 ENSG00000137710 ENSE00003461011 non_coding_transcript_exon_variant 0.279269 0.27984 0.0708 0.088506 0.57178956799398 0.100867 0.998954589256721 TRUE 6.13803e-05 ENSE00000930979_000 ENSE00000930979 000 15 40921430 40921599 + 41 99 30 NA NA NA NA NA TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 NA NA NA NA NA NA TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC natural 16 11 0.999461578903647 0.998127837098018 0.998794708000832 3208 2178 0.998642676801906 0.996555102225224 0.997598889513565 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 0 0 0 0 0.998794708000832 0.997598889513565 0 0 0 FALSE FALSE NA NA NA NA NA CASC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNL1 NA NA NA ENSG00000137812 ENSE00000930979 NA NA NA NA NA NA NA NA NA NA ENSE00000930979_001 ENSE00000930979 001 15 40921430 40921599 + 41 99 30 G A 40921441 431 12 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGATGTGGACCTGGAGAAGTATAAAGAACTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAAAAGTTTGCATGACTATTCAATGTGA 40629231 40629401 40629242 40629243 40629243 upstr_intron -30 -0.707317073170732 TCACATTGAATAGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 789 184 0.99794786126648 0.999139502006461 0.998543681636471 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.000694815535425941 0.0025843997812367 0.998794708000832 0.997598889513565 NA 0.00094479212290538 NA FALSE NA 0 -0.465 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 rs201120711 1 NA TGG G,A 1.656e-05 15:40629243 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 intron_variant 0.428279 0.21489 0.0333 0.163922 0.649738974312114 0.044906 NA NA 1.97912e-05 ENSE00000930979_002 ENSE00000930979 002 15 40921430 40921599 + 41 99 30 G A 40921442 432 13 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGATGTGGACCTGGAGAAGTATAAAGAACTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAAAAGTTTGCATGATCATTCAATGTGA 40629231 40629401 40629243 40629244 40629244 upstr_intron -29 -0.682926829268293 TCACATTGAATGATCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 785 117 1 1 1 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA 0.00135732319809356 0.00344489777477597 0.998794708000832 0.997598889513565 NA 0.00240111048643477 NA FALSE NA 0 -0.256 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 1 NA GGT G,A 8.28e-06 15:40629244 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 intron_variant 0.277612 0.17517 0.04944 0.163922 0.536544298702194 0.044906 NA NA 1.4658e-05 ENSE00000930979_003 ENSE00000930979 003 15 40921430 40921599 + 41 99 30 T C 40921455 433 26 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGATGTGGACCTGGAGAAGTATAAAGAACTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAGAAGTTTGCATGACCATTCAATGTGA 40629231 40629401 40629256 40629257 40629257 upstr_intron -16 -0.365853658536585 TCACATTGAATGGTCATGCAAACTTCTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 1135 443 0.85737529082991 0.961538700184215 0.909456995507062 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.141267385971996 -0.0350164020410094 0.998794708000832 0.997598889513565 NA -0.0881418940065027 NA FALSE NA 0 0.564 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 rs200823983 1 C:0.0006 C:0.0015 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0001 TTT T,C 0.0001159 15:40629257 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 intron_variant 0.854277 0.62319 0.11361 0.163922 0.865501622087199 0.250965 NA NA 0.000141675 ENSE00000930979_004 ENSE00000930979 004 15 40921430 40921599 + 41 99 30 T C 40921460 434 31 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGATGTGGACCTGGAGAAGTATAAAGAACTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGGAAAAAAAGTTTGCATGACCATTCAATGTGA 40629231 40629401 40629261 40629262 40629262 upstr_intron -11 -0.24390243902439 TCACATTGAATGGTCATGCAAACTTTTTTTCCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 771 580 0.981771663386762 0.974879116953956 0.978325390170359 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.016871013415144 -0.0216759852712677 0.998794708000832 0.997598889513565 NA -0.0192734993432058 NA FALSE NA 0.986 1.324 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 1 NA TTC T,C 1.656e-05 15:40629262 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 intron_variant 1.833217 0.95918 0.86856 0.163922 0.851340177141087 0.732828 NA NA 9.72365e-06 ENSE00000930979_005 ENSE00000930979 005 15 40921430 40921599 + 41 99 30 A G 40921489 435 60 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAGTAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629290 40629291 40629291 exon 19 0.191919191919192 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAGTAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 1029 326 0.995632622660602 0.99822946759743 0.996931045129016 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.00301005414130395 0.00167436537220578 0.998794708000832 0.997598889513565 NA -0.000667844384549088 NA FALSE NA 1 4.275 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 1 NA AAT A,G 3.311e-05 15:40629291 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 5.66287 0.99027 0.98253 0.732398 0.996536686234219 0 NA NA 3.68185e-05 ENSE00000930979_006 ENSE00000930979 006 15 40921430 40921599 + 41 99 30 A C 40921494 436 65 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACCATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629295 40629296 40629296 exon 24 0.242424242424242 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACCATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 841 464 0.997677146887254 0.990003646629805 0.993840396758529 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.000965529914652263 -0.00655145559541936 0.998794708000832 0.997598889513565 NA -0.00375849275503581 NA FALSE NA 0.981 0.297 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40629296 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 synonymous_variant -0.537936 0.94584 0.82441 0.732398 0.641233487456665 0 NA NA 4.75281e-05 ENSE00000930979_007 ENSE00000930979 007 15 40921430 40921599 + 41 99 30 A G 40921494 437 65 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACGATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629295 40629296 40629296 exon 24 0.242424242424242 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACGATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 348 381 1 0.999498998400986 0.999749499200493 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA 0.00135732319809356 0.00294389617576152 0.998794708000832 0.997598889513565 NA 0.00215060968692754 NA FALSE NA 0.981 0.297 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNL1 NA NA NA ENSG00000137812 ENSE00000930979 synonymous_variant 0.076933 0.94335 0.82812 0.732398 0.654687170313274 0 NA NA 4.32074e-06 ENSE00000930979_008 ENSE00000930979 008 15 40921430 40921599 + 41 99 30 G A 40921499 438 70 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGATGTGGACCTGGAGAAGTATAAAGAACTCCTTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAAAAGTTTGCATGACCATTCAATGTGA 40629231 40629401 40629300 40629301 40629301 exon 29 0.292929292929293 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAAGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 291 75 0.994202187500106 1 0.997101093750053 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.00444048930180074 0.00344489777477597 0.998794708000832 0.997598889513565 NA -0.000497795763512388 NA FALSE NA 0.661 0.824 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40629301 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 0.691906 0.72665 0.20177 0.732398 0.855489060782977 0 NA NA 4.29258e-05 ENSE00000930979_009 ENSE00000930979 009 15 40921430 40921599 + 41 99 30 G C 40921499 439 70 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAACGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629300 40629301 40629301 exon 29 0.292929292929293 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAACGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 1024 211 0.999435993560126 1 0.999717996780063 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA 0.000793316758219142 0.00344489777477597 0.998794708000832 0.997598889513565 NA 0.00211910726649756 NA FALSE NA 0.661 0.824 NA NA NA CASC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNL1 NA NA NA ENSG00000137812 ENSE00000930979 missense_variant 4.658745 0.80642 0.75449 0.732398 0.985023364108906 0 NA NA 4.29258e-06 ENSE00000930979_010 ENSE00000930979 010 15 40921430 40921599 + 41 99 30 T C 40921504 440 75 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGATGTGGACCTGGAGAAGTATAAAGAGCTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAAAAGTTTGCATGACCATTCAATGTGA 40629231 40629401 40629305 40629306 40629306 exon 34 0.343434343434343 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGCTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 156 590 0.994324970592863 0.983526501416821 0.988925736004842 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.00431770620904393 -0.0130286008084034 0.998794708000832 0.997598889513565 NA -0.00867315350872366 NA FALSE NA 1 5.063 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 COSM227870 1 NA GTT T,C 8.278e-06 15:40629306 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 6.460455 0.98954 0.98404 0.732398 0.997782971064206 0 NA NA NA ENSE00000930979_011 ENSE00000930979 011 15 40921430 40921599 + 41 99 30 T C 40921508 441 79 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGATGTGGACCTGGAGAAGTATAGAGAACTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAAAAGTTTGCATGACCATTCAATGTGA 40629231 40629401 40629309 40629310 40629310 exon 38 0.383838383838384 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTCTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant 10 16 1 1 1 287 73 1 1 1 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 0.000538421096353492 0.00187216290198233 0.00135732319809356 0.00344489777477597 0.998794708000832 0.997598889513565 0.00120529199916791 0.00240111048643477 0.00119581848726685 FALSE FALSE 1 5.063 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 1 NA TTT T,C 8.278e-06 15:40629310 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 6.464605 0.98954 0.98404 0.732398 0.998548179694901 0 NA NA NA ENSE00000930979_012 ENSE00000930979 012 15 40921430 40921599 + 41 99 30 C G 40921513 442 84 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATAGTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629314 40629315 40629315 exon 43 0.434343434343434 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATAGTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant 54 14 0 0 0 156 1842 0.989523978565473 0.998666661816179 0.994095320190826 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 -0.999461578903647 -0.998127837098018 -0.0091186982364333 0.0021115595909551 0.998794708000832 0.997598889513565 -0.998794708000832 -0.0035035693227391 0.995291138678093 FALSE TRUE 1 4.973 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 rs369488649 1 NA G:0 G:0.0001 ACT C,G 2.483e-05 15:40629315 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 6.200855 0.99002 0.9728 0.732398 0.998426935822726 0 NA NA 2.53244e-05 ENSE00000930979_013 ENSE00000930979 013 15 40921430 40921599 + 41 99 30 C T 40921516 443 87 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTTTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629317 40629318 40629318 exon 46 0.464646464646465 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTTTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 374 74 0.99777826995799 0.8 0.898889134978995 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.000864406843916754 -0.196555102225224 0.998794708000832 0.997598889513565 NA -0.0987097545345704 NA FALSE NA 1 3.435 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 rs371576856 1 NA T:0 T:0.0001 TCT C,T 8.278e-06 15:40629318 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 5.558544 0.98947 0.95276 0.732398 0.998581573638808 0 NA NA 4.21642e-06 ENSE00000930979_015 ENSE00000930979 015 15 40921430 40921599 + 41 99 30 G A 40921521 445 92 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGATGTGGACTTGGAGAAGTATAAAGAACTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAAAAGTTTGCATGACCATTCAATGTGA 40629231 40629401 40629322 40629323 40629323 exon -49 0.515151515151515 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAAGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 394 266 0.997998373739248 1 0.998999186869624 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.000644303062658613 0.00344489777477597 0.998794708000832 0.997598889513565 NA 0.00140029735605868 NA FALSE NA 0.847 -0.203 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 1 NA AGG G,A 8.278e-06 15:40629323 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 splice_acceptor_variant 0.478582 0.91206 0.39761 0.732398 0.652791379461879 0 NA NA 4.21109e-06 ENSE00000930979_016 ENSE00000930979 016 15 40921430 40921599 + 41 99 30 T C 40921529 446 100 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGGTTTCTGTATCAAGGTGTGGACCTGGAGAAGTATAAAGAACTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAAAAGTTTGCATGACCATTCAATGTGA 40629231 40629401 40629330 40629331 40629331 exon -41 0.595959595959596 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACACCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 110 942 1 0.999327846194156 0.999663923097078 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA 0.00135732319809356 0.00277274396893157 0.998794708000832 0.997598889513565 NA 0.00206503358351257 NA FALSE NA 0.998 3.571 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 1 NA ATC T,C 8.278e-06 15:40629331 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 4.202848 0.98687 0.94218 0.732398 0.998391453371401 0 NA NA 4.1972e-06 ENSE00000930979_017 ENSE00000930979 017 15 40921430 40921599 + 41 99 30 G T 40921533 447 104 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTTATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629334 40629335 40629335 exon -37 0.636363636363636 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTTATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 1237 349 0.925220181357896 0.988404500490181 0.956812340924039 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA -0.07342249544401 -0.00815060173504256 0.998794708000832 0.997598889513565 NA -0.0407865485895263 NA FALSE NA 0.969 0.029 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 1 NA TGA G,T 8.278e-06 15:40629335 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 5.217712 0.95626 0.68816 0.732398 0.88792243388516 0 NA NA 8.36946e-06 ENSE00000930979_018 ENSE00000930979 018 15 40921430 40921599 + 41 99 30 A T 40921542 448 113 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAATCCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629343 40629344 40629344 exon -28 0.727272727272727 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAATCCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 59 314 1 0.806270978738779 0.90313548936939 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA 0.00135732319809356 -0.190284123486445 0.998794708000832 0.997598889513565 NA -0.0944634001441756 NA FALSE NA 1 2.426 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40629344 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 4.564314 0.96978 0.86923 0.732398 0.958511734468937 0 NA NA 1.25877e-05 ENSE00000930979_019 ENSE00000930979 019 15 40921430 40921599 + 41 99 30 A G 40921542 449 113 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAGCCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629343 40629344 40629344 exon -28 0.727272727272727 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAGCCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 2007 1116 0.999609754028467 0.971120967795246 0.985365360911857 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA 0.000967077226560864 -0.025434134429978 0.998794708000832 0.997598889513565 NA -0.0122335286017086 NA FALSE NA 1 2.426 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNL1 NA NA NA ENSG00000137812 ENSE00000930979 missense_variant 0.562399 0.96765 0.70102 0.732398 0.988290145976623 0 NA NA NA ENSE00000930979_020 ENSE00000930979 020 15 40921430 40921599 + 41 99 30 C A 40921543 450 114 GCAAACATTTTGCCAAGAAACTGCACTTACATTGCCTGGGAGATTGCTCTGTCGGGTTTTCTGTATCAAGATGTGGACCTGGAGAAGTATAAAGAACTCCCTTATTGTTATTCTCCCATCTTGGAGTTTCTGAGAAAAGAAAAAAAAGTTTGCATGACCATTCAATGTGA 40629231 40629401 40629344 40629345 40629345 exon -27 0.737373737373737 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAAACCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 87 635 1 1 1 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA 0.00135732319809356 0.00344489777477597 0.998794708000832 0.997598889513565 NA 0.00240111048643477 NA FALSE NA 1 4.973 NA NA NA CASC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40629345 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 6.580161 0.98987 0.97142 0.732398 0.987513976515197 0 NA NA 8.38947e-06 ENSE00000930979_024 ENSE00000930979 024 15 40921430 40921599 + 41 99 30 A G 40921556 454 127 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAGTCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 40629357 40629358 40629358 exon -14 0.868686868686869 TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAGTCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC mutant NA NA NA NA NA 92 2099 1 0.958458526896265 0.979229263448133 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 NA NA 0.00135732319809356 -0.0380965753289589 0.998794708000832 0.997598889513565 NA -0.0183696260654327 NA FALSE NA 0.989 0.931 . downstream_gene_variant MODIFIER CASC5 HGNC 24054 ENST00000533001 1 NA AAT A,G 8.279e-06 15:40629358 KNL1 HGNC Symbol protein_coding 70322 ENSG00000137812 ENSE00000930979 missense_variant 0.866788 0.9562 0.71852 0.706298 0.99256199096201 0 NA NA NA ENSE00000930979_BRK ENSE00000930979 BRK 15 40921430 40921599 + 41 99 30 A,G; T,T NA NA NA TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCTTAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATCCAAGTGCAGTTTCTTGGCAAAATGTTTGC 40629231 40629401 NA NA NA NA NA NA TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCTTAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATCCAAGTGCAGTTTCTTGGCAAAATGTTTGC TCACATTGAATGGTCATGCAAACTTTTTTTTCTTTTCTCAGAAACTCCAAGATGGGAGAATAACAATAAGGGAGTTCTTTATACTTCTCCAGGTCCACATCTTGATACAGAAACCCCGACAGAGCAATCTCCCAGGCAATGTAAGTGCAGTTTCTTGGCAAAATGTTTGC control 47 171 0 0 0 NA NA NA NA NA 0.999461578903647 0.998127837098018 0.998642676801906 0.996555102225224 -0.999461578903647 -0.998127837098018 NA NA 0.998794708000832 0.997598889513565 -0.998794708000832 NA NA NA TRUE NA NA NA NA NA CASC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNL1 NA NA NA ENSG00000137812 ENSE00000930979 NA NA NA NA NA NA NA NA NA NA ENSE00000931020_000 ENSE00000931020 000 15 41770695 41770864 + 51 78 41 NA NA NA NA NA TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC 41478496 41478666 NA NA NA NA NA NA TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC natural 400 286 0.847254498737936 0.803969747685357 0.825612123211647 5601 6196 0.891878762936059 0.894664308972292 0.893271535954176 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 0 0 0 0 0.825612123211647 0.893271535954176 0 0 0 FALSE FALSE NA NA NA NA NA RTF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RTF1 NA NA NA ENSG00000137815 ENSE00000931020 NA NA NA NA NA NA NA 0.993637763534383 TRUE NA ENSE00000931020_001 ENSE00000931020 001 15 41770695 41770864 + 51 78 41 C T 41770707 601 13 TGAGAGGAGGGGTTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC 41478496 41478666 41478508 41478509 41478509 upstr_intron -39 -0.745098039215686 TGAGAGGAGGGGTTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant NA NA NA NA NA 708 489 0.980362737580137 0.987868855134065 0.984115796357101 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA 0.0884839746440782 0.093204546161773 0.825612123211647 0.893271535954176 NA 0.0908442604029256 NA FALSE NA 0 -1.119 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 rs559014297 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCT C,T 0.000173 15:41478509 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 non_coding_transcript_exon_variant -0.012655 0.15497 0.02262 0.295142 0.580127271807029 0.155828 0.993637763534383 TRUE 0.000158803 ENSE00000931020_002 ENSE00000931020 002 15 41770695 41770864 + 51 78 41 G A 41770728 602 34 GAATCTAGGTCCTGACTAAAATGTCCTCTTTCAGCACTCACATTAGAAACGATGGTAGGCTTGCACTGCCGCCGAGTAAAGGGATCCATCTGTTGGTTTTTCATGTTGTGACTTTCAGCCTGAAACAGAAAGCATGTACCACAGAACTGCACCTCCAGCCCCTCCTCTCA 41478496 41478666 41478529 41478530 41478530 upstr_intron -18 -0.333333333333333 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTACATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant 17 11 0.85 0.85 0.85 1539 524 0.974294878915006 0.965765571628697 0.970030225271852 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 0.00274550126206374 0.046030252314643 0.0824161159789475 0.071101262656405 0.825612123211647 0.893271535954176 0.0243878767883534 0.0767586893176763 0.0523708125293229 FALSE FALSE 0 -0.176 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 rs199559371 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TGC G,A 8.236e-06 15:41478530 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 non_coding_transcript_exon_variant 1.011042 0.2088 0.02787 0.295142 0.690775311155053 0.27193 0.993637763534383 TRUE 8.12222e-06 ENSE00000931020_003 ENSE00000931020 003 15 41770695 41770864 + 51 78 41 T C 41770736 603 42 GAATCTAGGTCCTGACTAAAATGTCCTCTTTCAGCACTCACATTAGAAACGATGGTAGGCTTGCACTGCCGCCGAGTAAAGGGATCCATCTGTTGGTTTTTCATGTTGTGACTTTCAGCCTGAAACAGGAAGCATGCACCACAGAACTGCACCTCCAGCCCCTCCTCTCA 41478496 41478666 41478537 41478538 41478538 upstr_intron -10 -0.176470588235294 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTCCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant NA NA NA NA NA 266 315 0.00184225193284271 0.00720048029303152 0.00452136611293711 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA -0.890036511003216 -0.887463828679261 0.825612123211647 0.893271535954176 NA -0.888750169841238 NA TRUE NA 0.175 1.8 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA TTC T,C 8.236e-06 15:41478538 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 non_coding_transcript_exon_variant 1.673693 0.33419 0.3813 0.295142 0.808359779529975 0.803201 0.993637763534383 TRUE 4.06075e-06 ENSE00000931020_004 ENSE00000931020 004 15 41770695 41770864 + 51 78 41 C T 41770755 604 61 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTTACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC 41478496 41478666 41478556 41478557 41478557 exon 10 0.128205128205128 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTTACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant NA NA NA NA NA 772 26 0.959390271162088 0.995484390864227 0.977437331013158 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA 0.0675115082260295 0.100820081891935 0.825612123211647 0.893271535954176 NA 0.0841657950589824 NA FALSE NA 1 5.818 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA TCA C,T 8.236e-06 15:41478557 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 missense_variant 4.564647 0.99413 0.98657 0.706548 0.991098824787674 0 0.993637763534383 TRUE 1.6243e-05 ENSE00000931020_007 ENSE00000931020 007 15 41770695 41770864 + 51 78 41 C A 41770794 607 100 GAATCTAGGTCCTGACTAAAATGTCCTCTTTCAGCACTCACATTAGAAACGATGGTAGGCTTGCACTGCCTCCGAGTAAAGGGATCCATCTGTTGGTTTTTCATGTTGTGACTTTCAGCCTGAAACAGAAAGCATGCACCACAGAACTGCACCTCCAGCCCCTCCTCTCA 41478496 41478666 41478595 41478596 41478596 exon -30 0.628205128205128 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGAGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant NA NA NA NA NA 189 1605 0.811960867809918 0.684356703307318 0.748158785558618 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA -0.079917895126141 -0.210307605664974 0.825612123211647 0.893271535954176 NA -0.145112750395557 NA FALSE NA 1 2.284 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA GCG C,A 5.765e-05 15:41478596 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 synonymous_variant 2.160298 0.97993 0.90716 0.706548 0.560922053268884 0 0.993637763534383 TRUE 4.46701e-05 ENSE00000931020_008 ENSE00000931020 008 15 41770695 41770864 + 51 78 41 T C 41770808 608 114 GAATCTAGGTCCTGACTAAAATGTCCTCTTTCAGCACTCACATTAGAAACGATGGTGGGCTTGCACTGCCGCCGAGTAAAGGGATCCATCTGTTGGTTTTTCATGTTGTGACTTTCAGCCTGAAACAGAAAGCATGCACCACAGAACTGCACCTCCAGCCCCTCCTCTCA 41478496 41478666 41478609 41478610 41478610 exon -16 0.807692307692308 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCCACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant 144 94 0.85 0.85 0.85 2110 971 0.952891446501648 0.954213754711048 0.953552600606348 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 0.00274550126206374 0.046030252314643 0.0610126835655888 0.0595494457387555 0.825612123211647 0.893271535954176 0.0243878767883534 0.0602810646521721 0.0358931878638188 FALSE FALSE 0.993 0.306 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 rs551265380 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTA T,C 1.647e-05 15:41478610 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 synonymous_variant 0.32048 0.96584 0.7462 0.706548 0.597629679695354 0 0.993637763534383 TRUE 1.21899e-05 ENSE00000931020_010 ENSE00000931020 010 15 41770695 41770864 + 51 78 41 G C 41770833 610 139 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTCAAAGAGGACATTTTAGTCAGGACCTAGATTC 41478496 41478666 41478634 41478635 41478635 downstr_intron 10 1.25 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTCAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant NA NA NA NA NA 738 939 0.979999503653826 0.991774534546816 0.985887019100321 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA 0.0881207407177675 0.0971102255745242 0.825612123211647 0.893271535954176 NA 0.0926154831461459 NA FALSE NA 0 -0.715 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 rs373458495 1 NA C:0 C:0.0001 TGA G,C 8.236e-06 15:41478635 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 non_coding_transcript_exon_variant 0.314959 0.20287 0.01915 0.099367 0.592746772195106 0.340641 0.993637763534383 TRUE 4.06431e-06 ENSE00000931020_011 ENSE00000931020 011 15 41770695 41770864 + 51 78 41 G A 41770839 611 145 GAATCTAGGTCCTGACTAAAATGTCTTCTTTCAGCACTCACATTAGAAACGATGGTAGGCTTGCACTGCCGCCGAGTAAAGGGATCCATCTGTTGGTTTTTCATGTTGTGACTTTCAGCCTGAAACAGAAAGCATGCACCACAGAACTGCACCTCCAGCCCCTCCTCTCA 41478496 41478666 41478640 41478641 41478641 downstr_intron 16 1.4 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAAGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant NA NA NA NA NA 452 1347 0.958600399859556 0.963495329643451 0.961047864751503 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA 0.0667216369234971 0.0688310206711586 0.825612123211647 0.893271535954176 NA 0.0677763287973279 NA FALSE NA 0.68 3.253 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA AGG G,A 8.236e-06 15:41478641 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 non_coding_transcript_exon_variant 1.385177 0.971 0.85044 0.099367 0.692043096049851 0.908764 0.993637763534383 TRUE 8.1359e-06 ENSE00000931020_013 ENSE00000931020 013 15 41770695 41770864 + 51 78 41 A G 41770843 613 149 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACGTTTTAGTCAGGACCTAGATTC 41478496 41478666 41478644 41478645 41478645 downstr_intron 20 1.5 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACGTTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant NA NA NA NA NA 498 617 0.989348735072365 0.987994644762219 0.988671689917292 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA 0.0974699721363059 0.0933303357899272 0.825612123211647 0.893271535954176 NA 0.0954001539631166 NA FALSE NA 0 -2.012 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA CAT A,G 8.236e-06 15:41478645 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 non_coding_transcript_exon_variant -0.541054 0.07084 0.0068 0.099367 0.369349269476025 0.322646 0.993637763534383 TRUE 8.14511e-06 ENSE00000931020_014 ENSE00000931020 014 15 41770695 41770864 + 51 78 41 A G 41770848 614 154 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTGGTCAGGACCTAGATTC 41478496 41478666 41478649 41478650 41478650 downstr_intron 25 1.625 TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTGGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC mutant NA NA NA NA NA 446 171 0.999907691518877 0.999777135180458 0.999842413349667 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA 0.108028928582818 0.105112826208166 0.825612123211647 0.893271535954176 NA 0.106570877395492 NA FALSE NA 0.274 3.054 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA TAG A,G 8.236e-06 15:41478650 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00000931020 non_coding_transcript_exon_variant 1.037761 0.34155 0.82257 0.099367 0.607868073410884 0.340641 0.993637763534383 TRUE 4.08083e-06 ENSE00000931020_BRK ENSE00000931020 BRK 15 41770695 41770864 + 51 78 41 A,G; T,T NA NA NA TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCTTGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATCCGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC 41478496 41478666 NA NA NA NA NA NA TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCTTGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATCCGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC TGAGAGGAGGGGCTGGAGGTGCAGTTCTGTGGTGCATGCTTTCTGTTTCAGGCTGAAAGTCACAACATGAAAAACCAACAGATGGATCCCTTTACTCGGCGGCAGTGCAAGCCTACCATCGTTTCTAATGTGAGTGCTGAAAGAGGACATTTTAGTCAGGACCTAGATTC control NA NA NA NA NA 147 231 0 0 0 0.847254498737936 0.803969747685357 0.891878762936059 0.894664308972292 NA NA -0.891878762936059 -0.894664308972292 0.825612123211647 0.893271535954176 NA -0.893271535954176 NA TRUE NA NA NA NA NA NA RTF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RTF1 NA NA NA ENSG00000137815 ENSE00000931020 NA NA NA NA NA NA NA 0.993637763534383 TRUE NA ENSE00000931377_000 ENSE00000931377 000 15 50781948 50782117 + 50 81 39 NA NA NA NA NA GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 NA NA NA NA NA NA CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC natural NA NA NA NA NA 2865 3119 0.993358755397433 0.979214162361653 0.986286458879543 NA NA 0.993358755397433 0.979214162361653 NA NA 0 0 NA 0.986286458879543 NA 0 NA FALSE NA NA NA NA NA NA USP8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP8 NA NA NA ENSG00000138592 ENSE00000931377 NA NA NA NA NA NA NA 0.999982628555187 TRUE NA ENSE00000931377_001 ENSE00000931377 001 15 50781948 50782117 + 50 81 39 T A 50781963 858 16 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAATTTTTTTTTAAATCTG 50489750 50489920 50489765 50489766 50489766 upstr_intron -35 -0.68 CAGATTTAAAAAAAAATTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 1308 186 0.99809548688072 1 0.99904774344036 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00473673148328746 0.020785837638347 NA 0.986286458879543 NA 0.0127612845608172 NA FALSE NA 0 -2.911 rs3098176 intron_variant MODIFIER USP8 HGNC 12631 ENST00000307179 12/19 rs3098176&TMP_ESP_15_50781963_50781963 1 T:0.4633 A:0.5961 A:0.5259 NA A:0.623& A:0.4254 A:0.4898& -:0.5185 -:0.3732 ATT A,A 0.332 15:50489766 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 non_coding_transcript_exon_variant -0.115795 0.10454 0.00224 0.322412 0.0980105634985602 0.0778546 0.999982628555187 TRUE 0.435033 ENSE00000931377_002 ENSE00000931377 002 15 50781948 50782117 + 50 81 39 T A 50781964 859 17 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAATATTTTTTTTAAATCTG 50489750 50489920 50489766 50489767 50489767 upstr_intron -34 -0.66 CAGATTTAAAAAAAATATTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 252 444 1 1 1 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00664124460256699 0.020785837638347 NA 0.986286458879543 NA 0.013713541120457 NA FALSE NA 0.001 -1.849 . intron_variant MODIFIER USP8 HGNC 12631 ENST00000307179 12/19 rs573207072 1 A:0.0014 A:0.0023 A:0.0029 NA A:0.002 A:0 A:0 TTT T,A 0.0002903 15:50489767 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 non_coding_transcript_exon_variant -0.193129 0.1038 0.00097 0.322412 0.139214441719648 0.0448725 0.999982628555187 TRUE 0.000521055 ENSE00000931377_003 ENSE00000931377 003 15 50781948 50782117 + 50 81 39 T C 50781965 860 18 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAGAATTTTTTTTAAATCTG 50489750 50489920 50489767 50489768 50489768 upstr_intron -33 -0.64 CAGATTTAAAAAAAATTCTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 1516 961 0.954683941030881 0.989345377717471 0.972014659374176 NA NA 0.993358755397433 0.979214162361653 NA NA -0.0386748143665521 0.0101312153558181 NA 0.986286458879543 NA -0.014271799505367 NA FALSE NA 0.002 0.938 . intron_variant MODIFIER USP8 HGNC 12631 ENST00000307179 12/19 rs534306371 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTT T,C 5.265e-05 15:50489768 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 non_coding_transcript_exon_variant -0.48489 0.10054 0.01456 0.322412 0.198571195541979 0.0769822 0.999982628555187 TRUE 5.70659e-05 ENSE00000931377_004 ENSE00000931377 004 15 50781948 50782117 + 50 81 39 T A 50781967 861 20 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAATAAAATTTTTTTTAAATCTG 50489750 50489920 50489769 50489770 50489770 upstr_intron -31 -0.6 CAGATTTAAAAAAAATTTTATTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 32 1371 1 1 1 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00664124460256699 0.020785837638347 NA 0.986286458879543 NA 0.013713541120457 NA FALSE NA 0 0.207 . intron_variant MODIFIER USP8 HGNC 12631 ENST00000307179 12/19 rs555619385 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 TTT T,A 0.0001208 15:50489770 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 non_coding_transcript_exon_variant -0.178423 0.08663 0.02548 0.322412 0.192103069946061 0.0768426 0.999982628555187 TRUE 0.000119661 ENSE00000931377_005 ENSE00000931377 005 15 50781948 50782117 + 50 81 39 T A 50781971 862 24 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTTAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489773 50489774 50489774 upstr_intron -27 -0.52 CAGATTTAAAAAAAATTTTTTTTAAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 1090 1027 0.999101198864565 0.937378528709625 0.968239863787095 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00574244346713182 -0.0418356336520277 NA 0.986286458879543 NA -0.0180465950924479 NA FALSE NA 0.002 -0.283 . intron_variant MODIFIER USP8 HGNC 12631 ENST00000307179 12/19 rs574077364 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TTA T,A 0.0001015 15:50489774 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 non_coding_transcript_exon_variant 0.183133 0.26464 0.02144 0.322412 0.369226725182489 0.0448725 0.999982628555187 TRUE 8.00416e-05 ENSE00000931377_008 ENSE00000931377 008 15 50781948 50782117 + 50 81 39 T C 50781995 865 48 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTGATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489797 50489798 50489798 upstr_intron -3 -0.04 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATCAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 326 1269 0.996225050531471 0.993945511564527 0.995085281047999 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00286629513403813 0.0147313492028736 NA 0.986286458879543 NA 0.00879882216845584 NA FALSE NA 0.065 0.373 . splice_region_variant&intron_variant LOW USP8 HGNC 12631 ENST00000307179 12/19 1 NA TTA T,C 8.237e-06 15:50489798 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 splice_region_variant -0.020135 0.20654 0.32725 0.322412 0.51759540012995 0.135684 0.999982628555187 TRUE NA ENSE00000931377_009 ENSE00000931377 009 15 50781948 50782117 + 50 81 39 G T 50781998 866 51 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGACTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489800 50489801 50489801 exon 1 0.0123456790123457 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGTCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 207 71 1 1 1 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00664124460256699 0.020785837638347 NA 0.986286458879543 NA 0.013713541120457 NA FALSE NA 1 1.885 . missense_variant&splice_region_variant MODERATE USP8 HGNC 12631 ENST00000307179 13/20 1 tolerated(0.66) benign(0.049) NA GGC G,T 8.236e-06 15:50489801 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 missense_variant 0.621753 0.95522 0.4919 0.732398 0.677265776779743 0 0.999982628555187 TRUE NA ENSE00000931377_012 ENSE00000931377 012 15 50781948 50782117 + 50 81 39 G A 50782005 869 58 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTTGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489807 50489808 50489808 exon 8 0.0987654320987654 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACAAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 204 1301 1 0.999849134641331 0.999924567320666 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00664124460256699 0.0206349722796783 NA 0.986286458879543 NA 0.0136381084411226 NA FALSE NA 1 8.839 rs138584718 missense_variant MODERATE USP8 HGNC 12631 ENST00000307179 13/20 rs138584718 1 tolerated(0.11) benign(0.044) NA A:0 A:0.0001 CGA G,A 1.647e-05 15:50489808 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 missense_variant 4.624143 0.99196 0.99195 0.732398 0.998894548294014 0 0.999982628555187 TRUE 4.72246e-06 ENSE00000931377_013 ENSE00000931377 013 15 50781948 50782117 + 50 81 39 C T 50782023 870 76 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTACTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489825 50489826 50489826 exon 26 0.320987654320988 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGTACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 389 1664 1 0.996443690256504 0.998221845128252 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00664124460256699 0.017229527894851 NA 0.986286458879543 NA 0.011935386248709 NA FALSE NA 1 6.997 . missense_variant MODERATE USP8 HGNC 12631 ENST00000307179 13/20 1 deleterious(0.02) probably_damaging(0.97) NA GCA C,T 1.647e-05 15:50489826 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 missense_variant 7.124387 0.99195 0.98777 0.732398 0.999240685688995 0 0.999982628555187 TRUE 8.74225e-06 ENSE00000931377_015 ENSE00000931377 015 15 50781948 50782117 + 50 81 39 G A 50782029 872 82 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCATTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489831 50489832 50489832 exon 32 0.395061728395062 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAATGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 294 481 0.982885543018486 0.995747347140812 0.989316445079649 NA NA 0.993358755397433 0.979214162361653 NA NA -0.0104732123789474 0.0165331847791589 NA 0.986286458879543 NA 0.00302998620010575 NA FALSE NA 1 8.839 . missense_variant MODERATE USP8 HGNC 12631 ENST00000307179 13/20 rs372108112 1 tolerated(0.07) probably_damaging(0.914) NA A:0 A:0.0001 AGT G,A 0.0003953 15:50489832 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 missense_variant 6.326007 0.99216 0.99216 0.732398 0.997468661558387 0 0.999982628555187 TRUE 0.000244386 ENSE00000931377_016 ENSE00000931377 016 15 50781948 50782117 + 50 81 39 G A 50782031 873 84 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTTACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489833 50489834 50489834 exon 34 0.419753086419753 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTAAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 306 20 0.993360306808269 1 0.996680153404135 NA NA 0.993358755397433 0.979214162361653 NA NA 1.55141083646448e-06 0.020785837638347 NA 0.986286458879543 NA 0.0103936945245917 NA FALSE NA 1 8.839 . missense_variant MODERATE USP8 HGNC 12631 ENST00000307179 13/20 1 tolerated(0.07) probably_damaging(0.952) NA TGA G,A 8.236e-06 15:50489834 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 missense_variant 6.143165 0.99216 0.99216 0.732398 0.998296415217578 0 0.999982628555187 TRUE NA ENSE00000931377_017 ENSE00000931377 017 15 50781948 50782117 + 50 81 39 C T 50782048 874 101 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACAATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489850 50489851 50489851 exon -31 0.62962962962963 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATTGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 141 492 1 1 1 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00664124460256699 0.020785837638347 NA 0.986286458879543 NA 0.013713541120457 NA FALSE NA 0.501 -0.324 . synonymous_variant LOW USP8 HGNC 12631 ENST00000307179 13/20 1 NA TCG C,T 8.236e-06 15:50489851 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 synonymous_variant 2.236215 0.43284 0.10297 0.732398 0.841877555005021 0 0.999982628555187 TRUE 4.32302e-06 ENSE00000931377_018 ENSE00000931377 018 15 50781948 50782117 + 50 81 39 G A 50782049 875 102 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTATGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489851 50489852 50489852 exon -30 0.641975308641975 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCATACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 191 296 1 0.999465326166631 0.999732663083316 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00664124460256699 0.0202511638049784 NA 0.986286458879543 NA 0.0134462042037727 NA FALSE NA 1 4.896 . missense_variant MODERATE USP8 HGNC 12631 ENST00000307179 13/20 rs375429027 1 tolerated(0.26) possibly_damaging(0.897) NA A:0 A:0.0001 CGT G,A 4.118e-05 15:50489852 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 missense_variant 4.697863 0.96947 0.95191 0.732398 0.992518854695335 0 0.999982628555187 TRUE 3.88149e-05 ENSE00000931377_019 ENSE00000931377 019 15 50781948 50782117 + 50 81 39 A C 50782054 876 107 GAACACAGTGGCTATTTTACTGCTAATTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCGGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489856 50489857 50489857 exon -25 0.703703703703704 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCCGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 151 1750 1 0.999542007419092 0.999771003709546 NA NA 0.993358755397433 0.979214162361653 NA NA 0.00664124460256699 0.0203278450574392 NA 0.986286458879543 NA 0.0134845448300031 NA FALSE NA 0.997 0.24 . synonymous_variant LOW USP8 HGNC 12631 ENST00000307179 13/20 1 NA CAG A,C 8.236e-06 15:50489857 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 synonymous_variant 0.141566 0.96544 0.86647 0.732398 0.771787534672309 0 0.999982628555187 TRUE 4.32305e-06 ENSE00000931377_020 ENSE00000931377 020 15 50781948 50782117 + 50 81 39 T A 50782092 877 145 GAACACAGTGGCTATTTTACTGCTATTTCTGACTTTTACCTTGGCCCAGCCTGAAGGCAGTCCTGGTACGATCCTCCCCATTTCTTCACTTCGTGCTCTTGTCAAAGGTTCTCGTTGAGCCTAATTAAAATAAAATAAAAAAAATTAAAAAAAAATTTTTTTTAAATCTG 50489750 50489920 50489894 50489895 50489895 downstr_intron 14 1.36842105263158 CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAAATAGCAGTAAAATAGCCACTGTGTTC CAGATTTAAAAAAAATTTTTTTTTAATTTTTTTTATTTTATTTTAATTAGGCTCAACGAGAACCTTTGACAAGAGCACGAAGTGAAGAAATGGGGAGGATCGTACCAGGACTGCCTTCAGGCTGGGCCAAGGTAAAAGTCAGAATTAGCAGTAAAATAGCCACTGTGTTC mutant NA NA NA NA NA 122 954 0.990521142848451 0.995698281214054 0.993109712031253 NA NA 0.993358755397433 0.979214162361653 NA NA -0.00283761254898174 0.0164841188524009 NA 0.986286458879543 NA 0.00682325315170956 NA FALSE NA 0.004 1.048 . intron_variant MODIFIER USP8 HGNC 12631 ENST00000307179 13/19 1 NA ATT T,A 8.236e-06 15:50489895 USP8 HGNC Symbol protein_coding 90039 ENSG00000138592 ENSE00000931377 intron_variant 0.628266 0.22024 0.25417 0.088506 0.708421446064248 0.0681648 0.999982628555187 TRUE NA ENSE00000931465_000 ENSE00000931465 000 15 57835846 57836015 + 48 84 38 NA NA NA NA NA ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 NA NA NA NA NA NA ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT natural 14 40 0.999379087773174 0.984397761716642 0.991888424744908 1274 1290 0.985618357490364 0.938871303169617 0.96224483032999 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 0 0 0 0 0.991888424744908 0.96224483032999 0 0 0 FALSE FALSE NA NA NA NA NA CGNL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CGNL1 NA NA NA ENSG00000128849 ENSE00000931465 NA NA NA NA NA NA NA 9.04937499888625e-14 FALSE NA ENSE00000931465_001 ENSE00000931465 001 15 57835846 57836015 + 48 84 38 C G 57835868 1077 23 ACAGGAACAGTCCTTCTAACCTGTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543669 57543670 57543670 upstr_intron -26 -0.520833333333333 ACAGGAACAGTCCTTCTAACCTGTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 731 1100 1 0.856134665773528 0.928067332886764 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 -0.0827366373960896 0.991888424744908 0.96224483032999 NA -0.0341774974432266 NA FALSE NA 0 -0.689 rs1620315 intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 14/18 rs1620315 1 G:0.2686 G:0.4652 G:0.2738 NA G:0.1131 G:0.2078 G:0.2219 G:0.4243 G:0.2286 TCT C 0.23 15:57543670 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 intron_variant 0.002462 0.20124 0.03776 0.099367 0.59901722998927 0.0682314 9.04937499888625e-14 FALSE 0.22594 ENSE00000931465_002 ENSE00000931465 002 15 57835846 57836015 + 48 84 38 G A 57835872 1078 27 ATGGACGGGGGGGCAGCTCACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTCGCAGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTCCATCTACAGCAAGCAGAACAAAAGTCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543673 57543674 57543674 upstr_intron -22 -0.4375 ACAGGAACAGTCCTTCTAACCTCTGGACTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 966 341 0.968226489957201 0.994213797353977 0.981220143655589 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA -0.0173918675331629 0.0553424941843595 0.991888424744908 0.96224483032999 NA 0.0189753133255983 NA FALSE NA 0.002 0.251 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:57543674 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 intron_variant 0.566913 0.60032 0.00885 0.099367 0.77898471105074 0.0867598 9.04937499888625e-14 FALSE 8.1365e-06 ENSE00000931465_003 ENSE00000931465 003 15 57835846 57836015 + 48 84 38 G T 57835872 1079 27 ACAGGAACAGTCCTTCTAACCTCTGGTCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543673 57543674 57543674 upstr_intron -22 -0.4375 ACAGGAACAGTCCTTCTAACCTCTGGTCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 15 1025 1 0.999962862907402 0.999981431453701 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 0.0610915597377844 0.991888424744908 0.96224483032999 NA 0.0377366011237104 NA FALSE NA 0.002 0.251 NA NA NA CGNL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CGNL1 NA NA NA ENSG00000128849 ENSE00000931465 intron_variant 0.379237 0.65912 0.12076 0.099367 0.843366359159614 0.0867598 9.04937499888625e-14 FALSE 4.06825e-06 ENSE00000931465_004 ENSE00000931465 004 15 57835846 57836015 + 48 84 38 T C 57835885 1080 40 ATGGACGGGGGGGCAGCTCACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTCGCAGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTCCATCTACAGCAGGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543686 57543687 57543687 upstr_intron -9 -0.166666666666667 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCCTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 394 82 0.992804968476401 1 0.9964024842382 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.00718661098603746 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0341576539082101 NA FALSE NA 0.005 0.115 . intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 14/18 1 NA CTT T 8.236e-06 15:57543687 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 intron_variant -0.202618 0.21996 0.0782 0.099367 0.489256746328667 0.13915 9.04937499888625e-14 FALSE 8.1285e-06 ENSE00000931465_005 ENSE00000931465 005 15 57835846 57836015 + 48 84 38 G A 57835897 1081 52 ATGGACGGGGGGGCAGCTCACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTCGCAGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTTCATCTACAGCAAGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543698 57543699 57543699 exon 4 0.0476190476190476 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGAAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 78 25 1 1 1 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0377551696700096 NA FALSE NA 1 9.773 . missense_variant MODERATE CGNL1 HGNC 25931 ENST00000281282 15/19 1 deleterious(0.02) probably_damaging(0.997) NA GGA G 8.236e-06 15:57543699 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 missense_variant 7.038982 0.99508 0.99463 0.706548 0.999236444370635 0 9.04937499888625e-14 FALSE 4.06339e-06 ENSE00000931465_006 ENSE00000931465 006 15 57835846 57836015 + 48 84 38 T G 57835903 1082 58 ATGGACGGGGGGGCAGCTCACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTCGCAGCTCTCTCCTGAAGTAGCTCATTCCTCACCTGCTCCATCTACAGCAAGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543704 57543705 57543705 exon 10 0.119047619047619 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGGTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 41 98 1 1 1 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0377551696700096 NA FALSE NA 1 1.533 rs1620402 missense_variant MODERATE CGNL1 HGNC 25931 ENST00000281282 15/19 rs1620402 1 tolerated(0.14) benign(0.001) G:0.2782 G:0.4652 G:0.2925 NA G:0.1141 G:0.2376 G:0.226 G:0.4302 G:0.2554 GTT G 0.247 15:57543705 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 missense_variant 2.051909 0.97692 0.72743 0.706548 0.979810551273878 0 9.04937499888625e-14 FALSE 0.244366 ENSE00000931465_008 ENSE00000931465 008 15 57835846 57836015 + 48 84 38 C T 57835915 1084 70 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGTTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543716 57543717 57543717 exon 22 0.261904761904762 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGTTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 217 1552 0.997701757259357 0.999898084469447 0.998799920864402 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0120833997689938 0.0610267812998301 0.991888424744908 0.96224483032999 NA 0.0365550905344119 NA FALSE NA 1 0.868 . synonymous_variant LOW CGNL1 HGNC 25931 ENST00000281282 15/19 rs201212709 1 NA GCT C 8.236e-06 15:57543717 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 synonymous_variant 1.308957 0.97759 0.89071 0.706548 0.630873707251385 0 9.04937499888625e-14 FALSE 8.12433e-06 ENSE00000931465_009 ENSE00000931465 009 15 57835846 57836015 + 48 84 38 A G 57835917 1085 72 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTGCTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543718 57543719 57543719 exon 24 0.285714285714286 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTGCTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 789 244 0.893277592319903 1 0.946638796159951 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA -0.092340765170461 0.0611286968303827 0.991888424744908 0.96224483032999 NA -0.0156060341700391 NA FALSE NA 0 -4.02 . synonymous_variant LOW CGNL1 HGNC 25931 ENST00000281282 15/19 rs200932738 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAC A 8.236e-06 15:57543719 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 synonymous_variant 0.367782 0.14434 0.02085 0.706548 0.537750080773972 0 9.04937499888625e-14 FALSE 8.12453e-06 ENSE00000931465_012 ENSE00000931465 012 15 57835846 57836015 + 48 84 38 A G 57835925 1088 80 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGGGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543726 57543727 57543727 exon 32 0.380952380952381 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGGGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 321 60 0.999614753143622 1 0.999807376571811 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0139963956532589 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0375625462418208 NA FALSE NA 1 9.249 . missense_variant MODERATE CGNL1 HGNC 25931 ENST00000281282 15/19 1 deleterious(0) probably_damaging(1) NA GAG A 3.295e-05 15:57543727 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 missense_variant 7.224999 0.99328 0.99462 0.706548 0.999377586485282 0 9.04937499888625e-14 FALSE 2.03105e-05 ENSE00000931465_013 ENSE00000931465 013 15 57835846 57836015 + 48 84 38 A G 57835929 1089 84 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGGGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543730 57543731 57543731 exon 36 0.428571428571429 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGGGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 1595 235 0.991369312238886 1 0.995684656119443 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.00575095474852261 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0334398257894526 NA FALSE NA 1 3.123 . synonymous_variant LOW CGNL1 HGNC 25931 ENST00000281282 15/19 1 NA GAG A 8.236e-06 15:57543731 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 synonymous_variant 0.574778 0.97733 0.86308 0.706548 0.674327959857771 0 9.04937499888625e-14 FALSE 4.06204e-06 ENSE00000931465_014 ENSE00000931465 014 15 57835846 57836015 + 48 84 38 T G 57835932 1090 87 ATGGACGGGGGGGCAGCTCACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTCGCCGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTCCATCTACAGCAAGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543733 57543734 57543734 exon 39 0.464285714285714 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCGGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 272 227 0.999848602803519 1 0.99992430140176 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0142302453131559 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0376794710717693 NA FALSE NA 0.034 -0.087 . synonymous_variant LOW CGNL1 HGNC 25931 ENST00000281282 15/19 1 NA CTG T 8.236e-06 15:57543734 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 synonymous_variant 1.263291 0.58773 0.20621 0.706548 0.662478140397394 0 9.04937499888625e-14 FALSE 4.062e-06 ENSE00000931465_016 ENSE00000931465 016 15 57835846 57836015 + 48 84 38 G A 57835935 1092 90 ATGGACGGGGGGGCAGCTCACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTTGCAGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTCCATCTACAGCAAGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543736 57543737 57543737 exon 42 0.5 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCAAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 524 366 0.999707431477709 0.995654072969116 0.997680752223413 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0140890739873457 0.0567827697994987 0.991888424744908 0.96224483032999 NA 0.0354359218934222 NA FALSE NA 0.044 0.224 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:57543737 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 synonymous_variant 1.825528 0.27266 0.06393 0.706548 0.56117047213703 0 9.04937499888625e-14 FALSE 4.06194e-06 ENSE00000931465_017 ENSE00000931465 017 15 57835846 57836015 + 48 84 38 G C 57835935 1093 90 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCCAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543736 57543737 57543737 exon 42 0.5 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCCAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 54 92 0.850061367963498 1 0.925030683981749 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA -0.135556989526865 0.0611286968303827 0.991888424744908 0.96224483032999 NA -0.0372141463482413 NA FALSE NA 0.044 0.224 NA NA NA CGNL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CGNL1 NA NA NA ENSG00000128849 ENSE00000931465 synonymous_variant 1.492677 0.2775 0.07264 0.706548 0.535838658195482 0 9.04937499888625e-14 FALSE 1.21858e-05 ENSE00000931465_018 ENSE00000931465 018 15 57835846 57836015 + 48 84 38 A G 57835941 1094 96 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAGGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543742 57543743 57543743 exon -37 0.571428571428571 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAGGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 181 144 0.968965286615532 0.990477331841568 0.97972130922855 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA -0.0166530708748318 0.0516060286719509 0.991888424744908 0.96224483032999 NA 0.0174764788985595 NA FALSE NA 1 2.108 . synonymous_variant LOW CGNL1 HGNC 25931 ENST00000281282 15/19 1 NA AAG A 8.236e-06 15:57543743 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 synonymous_variant 0.824585 0.97015 0.67211 0.706548 0.592568662593626 0 9.04937499888625e-14 FALSE 4.06194e-06 ENSE00000931465_022 ENSE00000931465 022 15 57835846 57836015 + 48 84 38 G A 57835952 1098 107 ATGGACGGGGGGGCAGCTCACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGTACTCCAAGTCTTGTCTCGCAGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTCCATCTACAGCAAGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543753 57543754 57543754 exon -26 0.702380952380952 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTACGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 270 98 1 1 1 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0377551696700096 NA FALSE NA 1 9.773 . missense_variant MODERATE CGNL1 HGNC 25931 ENST00000281282 15/19 1 deleterious(0) probably_damaging(0.997) NA TGC G 1.647e-05 15:57543754 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 missense_variant 6.874796 0.99508 0.99772 0.706548 0.998203306089084 0 9.04937499888625e-14 FALSE 1.21864e-05 ENSE00000931465_023 ENSE00000931465 023 15 57835846 57836015 + 48 84 38 C T 57835953 1099 108 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGTGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543754 57543755 57543755 exon -25 0.714285714285714 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGTGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 93 481 0.998348131968815 1 0.999174065984407 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0127297744784513 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.036929235654417 NA FALSE NA 1 0.718 . synonymous_variant LOW CGNL1 HGNC 25931 ENST00000281282 15/19 1 NA GCG C 0.00014 15:57543755 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 synonymous_variant 2.143682 0.95553 0.08255 0.706548 0.538176138774203 0 9.04937499888625e-14 FALSE 0.000105638 ENSE00000931465_031 ENSE00000931465 031 15 57835846 57836015 + 48 84 38 G C 57835987 1107 142 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCACCCAGCCTGTGAGCTGCCCCCCCGTCCAT 57543647 57543817 57543788 57543789 57543789 downstr_intron 10 1.27027027027027 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCACCCAGCCTGTGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 423 345 0.999902670281292 1 0.999951335140646 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0142843127909283 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0377065048106555 NA FALSE NA 0 -0.208 . intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 15/18 rs570191284 1 C:0.0004 C:0.0008 C:0.0014 NA C:0 C:0 C:0 AGC G 1.647e-05 15:57543789 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 intron_variant 0.022387 0.24324 0.04128 0.099367 0.423132943645086 0.154423 9.04937499888625e-14 FALSE 4.07987e-06 ENSE00000931465_033 ENSE00000931465 033 15 57835846 57836015 + 48 84 38 G A 57835995 1109 150 ATGGACGGGGGGGCAGCTCATAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTCGCAGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTCCATCTACAGCAAGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543796 57543797 57543797 downstr_intron 18 1.48648648648649 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTATGAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 738 366 1 0.998742391796442 0.999371195898221 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 0.0598710886268248 0.991888424744908 0.96224483032999 NA 0.0371263655682306 NA FALSE NA 0 -1.285 . intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 15/18 1 NA TGT G 8.236e-06 15:57543797 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 intron_variant 0.025801 0.10848 0.00852 0.099367 0.515092010428863 0.0487247 9.04937499888625e-14 FALSE 8.15268e-06 ENSE00000931465_034 ENSE00000931465 034 15 57835846 57836015 + 48 84 38 G A 57835997 1110 152 ATGGACGGGGGGGCAGCTTACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTCGCAGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTCCATCTACAGCAAGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543798 57543799 57543799 downstr_intron 20 1.54054054054054 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTAAGCTGCCCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant 35 45 1 1 1 841 354 0.998904921217984 0.98635537211018 0.992630146664082 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 0.000620912226826476 0.0156022382833579 0.0132865637276209 0.0474840689405626 0.991888424744908 0.96224483032999 0.00811157525509221 0.0303853163340917 0.0222737410789995 FALSE FALSE 0.001 1.594 . intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 15/18 1 NA TGA G 8.236e-06 15:57543799 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 intron_variant 0.038203 0.19017 0.05896 0.099367 0.538442562741078 0.0487247 9.04937499888625e-14 FALSE 8.15322e-06 ENSE00000931465_036 ENSE00000931465 036 15 57835846 57836015 + 48 84 38 C A 57836004 1112 159 ATGGACGGGGGTGCAGCTCACAGGCTGGCTGCCCTCACCTGCCTCTCCAGGGAAATCTTGTCGCACTCCAAGTCTTGTCTCGCAGCTCTCTCCTGAAGTAGCTCATTCCTCAACTGCTCCATCTACAGCAAGCAGAACAAAAGCCCAGAGGTTAGAAGGACTGTTCCTGT 57543647 57543817 57543805 57543806 57543806 downstr_intron 27 1.72972972972973 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCACCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 19 942 1 0.99795406822132 0.99897703411066 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 0.0590827650517026 0.991888424744908 0.96224483032999 NA 0.0367322037806695 NA FALSE NA 0 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:57543806 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00000931465 intron_variant 0.278934 0.20432 0.03369 0.062308 0.438569937034998 0.0487247 9.04937499888625e-14 FALSE 0.00485389 ENSE00000931465_037 ENSE00000931465 037 15 57835846 57836015 + 48 84 38 C T 57836004 1113 159 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCTCCCCCGTCCAT 57543647 57543817 57543805 57543806 57543806 downstr_intron 27 1.72972972972973 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCTCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 47 245 1 1 1 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 0.0611286968303827 0.991888424744908 0.96224483032999 NA 0.0377551696700096 NA FALSE NA 0 0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00000931465 intron_variant 0.269941 0.11146 0.00886 0.062308 0.459743824330824 0.0487247 0.994933031618259 TRUE 0.000530637 ENSE00000931465_038 ENSE00000931465 038 15 57835846 57836015 + 48 84 38 C G 57836004 1114 159 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCGCCCCCGTCCAT 57543647 57543817 57543805 57543806 57543806 downstr_intron 27 1.72972972972973 ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCGCCCCCGTCCAT ACAGGAACAGTCCTTCTAACCTCTGGGCTTTTGTTCTGCTTGCTGTAGATGGAGCAGTTGAGGAATGAGCTACTTCAGGAGAGAGCTGCGAGACAAGACTTGGAGTGCGACAAGATTTCCCTGGAGAGGCAGGTGAGGGCAGCCAGCCTGTGAGCTGCCCCCCCGTCCAT mutant NA NA NA NA NA 61 99 1 0.978645890456502 0.989322945228251 0.999379087773174 0.984397761716642 0.985618357490364 0.938871303169617 NA NA 0.0143816425096365 0.0397745872868851 0.991888424744908 0.96224483032999 NA 0.0270781148982608 NA FALSE NA 0 0.23 NA NA NA CGNL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CGNL1 NA NA NA ENSG00000128849 ENSE00000931465 intron_variant 0.122541 0.20695 0.05169 0.062308 0.320375970062326 0.0487247 9.04937499888625e-14 FALSE 0.000123404 ENSE00000931773_000 ENSE00000931773 000 15 72550346 72550515 - 32 96 42 NA NA NA NA NA TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT 72258004 72258174 NA NA NA NA NA NA TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT natural 364 340 0.801863057012329 0.850028878756186 0.825945967884258 1148 3408 0.697571411868034 0.753081569812721 0.725326490840378 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 0 0 0 0 0.825945967884258 0.725326490840378 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARP6 NA NA NA ENSG00000137817 ENSE00003464576 NA NA NA NA NA NA NA 0.997418877545242 TRUE NA ENSE00000931773_003 ENSE00000931773 003 15 72550346 72550515 - 32 96 42 C T 72550367 1704 149 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCATACTCTATGACCCTCTTCCTT 72258004 72258174 72258025 72258026 72258026 downstr_intron 11 1.35483870967742 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCATACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT mutant NA NA NA NA NA 685 72 0.8 0.8 0.8 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 NA NA 0.102428588131966 0.0469184301872788 0.825945967884258 0.725326490840378 NA 0.0746735091596225 NA FALSE NA 0 -0.05 NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:72258026 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003464576 intron_variant 0.703488 0.12322 0.00918 0.295142 0.640880858172117 0.046875 0.997418877545242 TRUE 2.43801e-05 ENSE00000931773_006 ENSE00000931773 006 15 72550346 72550515 - 32 96 42 C T 72550420 1707 96 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTATGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT 72258004 72258174 72258078 72258079 72258079 exon -43 0.5625 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTATGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT mutant NA NA NA NA NA 124 82 0.00242993416818339 0 0.00121496708409169 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 NA NA -0.695141477699851 -0.753081569812721 0.825945967884258 0.725326490840378 NA -0.724111523756286 NA TRUE NA 0.955 0.156 . synonymous_variant LOW PARP6 HGNC 26921 ENST00000419739 10/20 rs372692377 1 T:0.0016 T:0 T:0 NA T:0 T:0 T:0.0082 T:0 T:0.0001 ACA C,T 0.0007604 15:72258079 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003464576 synonymous_variant 2.247705 0.96408 0.83137 0.706548 0.675620390492158 0 0.997418877545242 TRUE 0.000653935 ENSE00000931773_007 ENSE00000931773 007 15 72550346 72550515 - 32 96 42 C G 72550432 1708 84 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGACTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT 72258004 72258174 72258090 72258091 72258091 exon 42 0.4375 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGACTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT mutant NA NA NA NA NA 880 322 1 0.83049890768583 0.915249453842915 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 NA NA 0.302428588131966 0.0774173378731084 0.825945967884258 0.725326490840378 NA 0.189922963002537 NA FALSE NA 0.997 0.769 rs112878382 missense_variant MODERATE PARP6 HGNC 26921 ENST00000419739 10/20 rs112878382 1 tolerated(0.08) benign(0.224) G:0.0012 G:0.0038 G:0 NA G:0 G:0.001 G:0 G:0.0056 G:0.0001 ACT C,G 0.0005952 15:72258091 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003464576 missense_variant 2.779778 0.97783 0.94432 0.706548 0.990644411554216 0 0.997418877545242 TRUE 0.00047927 ENSE00000931773_008 ENSE00000931773 008 15 72550346 72550515 - 32 96 42 A T 72550440 1709 76 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACAATGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT 72258004 72258174 72258098 72258099 72258099 exon 34 0.354166666666667 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACAATGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT mutant 23 18 0.85 0.85 0.85 211 469 0.8 0.795745216958691 0.797872608479345 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 0.0481369429876708 -2.88787561861792e-05 0.102428588131966 0.0426636471459696 0.825945967884258 0.725326490840378 0.0240540321157423 0.0725461176389678 0.0484920855232255 FALSE FALSE 0.74 1.214 . missense_variant MODERATE PARP6 HGNC 26921 ENST00000419739 10/20 1 deleterious(0) probably_damaging(0.997) NA AAT A,T 8.267e-06 15:72258099 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003464576 missense_variant 2.736017 0.56711 0.71689 0.706548 0.990279934540077 0 0.997418877545242 TRUE 4.06161e-06 ENSE00000931773_010 ENSE00000931773 010 15 72550346 72550515 - 32 96 42 T C 72550459 1711 57 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCGGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT 72258004 72258174 72258117 72258118 72258118 exon 15 0.15625 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCGGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT mutant 59 163 0.85 0.85 0.85 NA NA NA NA NA 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 0.0481369429876708 -2.88787561861792e-05 NA NA 0.825945967884258 0.725326490840378 0.0240540321157423 NA NA NA FALSE 0.015 -0.865 . synonymous_variant LOW PARP6 HGNC 26921 ENST00000419739 10/20 1 NA CTG T,C 1.654e-05 15:72258118 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003464576 synonymous_variant 0.510579 0.95694 0.27579 0.706548 0.745349671131908 0 0.997418877545242 TRUE 1.21867e-05 ENSE00000931773_011 ENSE00000931773 011 15 72550346 72550515 - 32 96 42 A G 72550469 1712 47 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCACGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT 72258004 72258174 72258127 72258128 72258128 exon 5 0.0520833333333333 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCACGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT mutant 17 33 0.85 0.85 0.85 1247 227 0.804373424328343 0.8 0.802186712164172 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 0.0481369429876708 -2.88787561861792e-05 0.10680201246031 0.0469184301872788 0.825945967884258 0.725326490840378 0.0240540321157423 0.0768602213237942 0.0528061892080519 FALSE FALSE 1 8.823 . missense_variant MODERATE PARP6 HGNC 26921 ENST00000419739 10/20 1 deleterious(0.03) benign(0.277) NA CAT A,G 4.963e-05 15:72258128 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003464576 stop_lost 3.755331 0.98977 0.99194 0.706548 0.808320887732351 0 0.997418877545242 TRUE 6.0936e-05 ENSE00000931773_013 ENSE00000931773 013 15 72550346 72550515 - 32 96 42 C G 72550483 1714 33 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTCTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT 72258004 72258174 72258141 72258142 72258142 upstr_intron -10 -0.214285714285714 TGCCAGTACTTCCAAAAGACTTAGAATCTGTTCTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT mutant NA NA NA NA NA 1117 1879 0.97946028444286 0.993900093860547 0.986680189151703 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 NA NA 0.281888872574826 0.240818524047826 0.825945967884258 0.725326490840378 NA 0.261353698311326 NA FALSE NA 0.093 0 NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:72258142 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003464576 intron_variant 0.163005 0.12514 0.01546 0.062308 0.605106751487461 0.142532 0.997418877545242 TRUE 4.06507e-06 ENSE00000931773_018 ENSE00000931773 018 15 72550346 72550515 - 32 96 42 G T 72550504 1719 12 TGCCAGTACTTACAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT 72258004 72258174 72258162 72258163 72258163 upstr_intron -31 -0.714285714285714 TGCCAGTACTTACAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT TGCCAGTACTTCCAAAAGACTTAGAATCTGTTGTTTTCTCAGATCATGAAGTATGCAGAACAGAGGATTCCAACATTGAATGAGTACTGTGTGGTGTGTGATGAGCAGCATGTCTTCCAAAATGGATCTATGCTGAAGGTATAGGACCGTACTCTATGACCCTCTTCCTT mutant NA NA NA NA NA 1096 104 0.8 0.8 0.8 0.801863057012329 0.850028878756186 0.697571411868034 0.753081569812721 NA NA 0.102428588131966 0.0469184301872788 0.825945967884258 0.725326490840378 NA 0.0746735091596225 NA FALSE NA 0.001 -0.201 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 9/19 rs550443003 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 GGA G,T 3.309e-05 15:72258163 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003464576 intron_variant 0.133985 0.18204 0.10501 0.062308 0.788695927993218 0.0851235 0.997418877545242 TRUE 2.03409e-05 ENSE00000932422_000 ENSE00000932422 000 2 27684585 27684754 - 41 78 51 NA NA NA NA NA TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 NA NA NA NA NA NA TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT natural 48 33 0.836975896951611 0.948528310789453 0.892752103870532 2044 4466 0.976287468602256 0.991047600873109 0.983667534737682 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 0 0 0 0 0.892752103870532 0.983667534737682 0 0 0 FALSE FALSE NA NA NA NA NA IFT172 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT172 NA NA NA ENSG00000138002 ENSE00003585623 NA NA NA NA NA NA NA 2.29011817971014e-18 FALSE NA ENSE00000932422_001 ENSE00000932422 001 2 27684585 27684754 - 41 78 51 A T 27684616 500 139 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTATATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461748 27461749 27461749 downstr_intron 10 1.25 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTATATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 321 221 0.988613787514254 0.996659561891531 0.992636674702893 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.012326318911998 0.0056119610184221 0.892752103870532 0.983667534737682 NA 0.00896913996521004 NA FALSE NA 0 -0.158 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 rs368782783 1 NA T:0 T:0.0003 AAA A,T 0.0001318 2:27461749 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 intron_variant -0.054667 0.17221 0.01813 0.062308 0.501752017955901 0.216993 2.29011817971014e-18 FALSE 0.000150384 ENSE00000932422_003 ENSE00000932422 003 2 27684585 27684754 - 41 78 51 G A 27684636 502 119 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGTTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461768 27461769 27461769 exon -11 0.871794871794872 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGTTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 50 101 0.985112281100032 0.985639529286618 0.985375905193325 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.00882481249777667 -0.00540807158649093 0.892752103870532 0.983667534737682 NA 0.00170837045564287 NA FALSE NA 1 9.435 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA AGC G,A 8.236e-06 2:27461769 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 6.374035 0.99393 0.99449 0.615465 0.999151558620098 0 2.29011817971014e-18 FALSE 8.12764e-06 ENSE00000932422_004 ENSE00000932422 004 2 27684585 27684754 - 41 78 51 C T 27684643 503 112 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCACTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461775 27461776 27461776 exon -18 0.782051282051282 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCACTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 247 141 0.953641641502161 0.961866133150447 0.957753887326304 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA -0.0226458271000948 -0.0291814677226619 0.892752103870532 0.983667534737682 NA -0.0259136474113784 NA FALSE NA 1 4.676 rs188779949 downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 rs188779949 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCG C,T 4.118e-05 2:27461776 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 3.352307 0.99379 0.98305 0.638212 0.9922666024103 0 2.29011817971014e-18 FALSE 4.4698e-05 ENSE00000932422_005 ENSE00000932422 005 2 27684585 27684754 - 41 78 51 G A 27684644 504 111 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATTGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461776 27461777 27461777 exon -19 0.769230769230769 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATTGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 948 159 0.996921031744678 0.994554316009769 0.995737673877224 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0206335631424225 0.00350671513665979 0.892752103870532 0.983667534737682 NA 0.0120701391395411 NA FALSE NA 0 -2.025 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 rs535676099 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGA G,A 1.647e-05 2:27461777 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 synonymous_variant 1.061376 0.17466 0.02228 0.638212 0.635808105224479 0 2.29011817971014e-18 FALSE 3.25055e-05 ENSE00000932422_006 ENSE00000932422 006 2 27684585 27684754 - 41 78 51 C T 27684660 505 95 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCATTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461792 27461793 27461793 exon -35 0.564102564102564 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCATTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 59 388 0.950302270020126 0.983790503967115 0.967046386993621 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA -0.0259851985821293 -0.00725709690599396 0.892752103870532 0.983667534737682 NA -0.0166211477440616 NA FALSE NA 1 5.045 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 rs202089120 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0002 ACG C,T 6.589e-05 2:27461793 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 4.405873 0.98326 0.94976 0.615465 0.996369800172625 0 2.29011817971014e-18 FALSE NA ENSE00000932422_008 ENSE00000932422 008 2 27684585 27684754 - 41 78 51 G A 27684662 507 93 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACATCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461794 27461795 27461795 exon -37 0.538461538461538 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACATCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 1086 23 1 0.849601997267503 0.924800998633751 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0237125313977443 -0.141445603605606 0.892752103870532 0.983667534737682 NA -0.0588665361039311 NA FALSE NA 1 1.786 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA GGT G,A 8.236e-06 2:27461795 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 synonymous_variant 0.996312 0.97849 0.93673 0.615465 0.565204171778804 0 2.29011817971014e-18 FALSE 1.21902e-05 ENSE00000932422_009 ENSE00000932422 009 2 27684585 27684754 - 41 78 51 G A 27684664 508 91 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTATACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461796 27461797 27461797 exon -39 0.512820512820513 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTATACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 380 1559 0.962527753179292 0.954530917965094 0.958529335572193 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA -0.0137597154229639 -0.0365166829080151 0.892752103870532 0.983667534737682 NA -0.0251381991654895 NA FALSE NA 1 9.435 rs144645349 downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 rs144645349 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 1.647e-05 2:27461797 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 4.850002 0.99393 0.99449 0.615465 0.998162236867651 0 2.29011817971014e-18 FALSE 8.12678e-06 ENSE00000932422_010 ENSE00000932422 010 2 27684585 27684754 - 41 78 51 T C 27684665 509 90 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTGCACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461797 27461798 27461798 exon 39 0.5 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTGCACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 939 411 0.997832480036054 1 0.998916240018027 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0215450114337986 0.00895239912689083 0.892752103870532 0.983667534737682 NA 0.0152487052803447 NA FALSE NA 0.256 -0.449 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA GTA T,C 8.236e-06 2:27461798 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 synonymous_variant 0.464908 0.65863 0.07363 0.615465 0.645474714302774 0 2.29011817971014e-18 FALSE NA ENSE00000932422_011 ENSE00000932422 011 2 27684585 27684754 - 41 78 51 C A 27684671 510 84 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCATGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461803 27461804 27461804 exon 33 0.423076923076923 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCATGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 251 16 0.8 0.815550444874462 0.807775222437231 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA -0.176287468602256 -0.175497155998647 0.892752103870532 0.983667534737682 NA -0.175892312300451 NA FALSE NA 1 1.3 rs113996042 downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 rs113996042 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CCT C,A 4.118e-05 2:27461804 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 3.12369 0.96913 0.90347 0.638212 0.991447664579757 0 2.29011817971014e-18 FALSE 2.43817e-05 ENSE00000932422_013 ENSE00000932422 013 2 27684585 27684754 - 41 78 51 C T 27684677 512 78 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATATACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461809 27461810 27461810 exon 27 0.346153846153846 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATATACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 1309 891 0.997178354735968 0.999822459340764 0.998500407038367 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0208908861337128 0.00877485846765524 0.892752103870532 0.983667534737682 NA 0.014832872300684 NA FALSE NA 1 5.729 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA ACA C,T 8.236e-06 2:27461810 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 6.80057 0.9894 0.98885 0.638212 0.996574873614392 0 2.29011817971014e-18 FALSE 4.06345e-06 ENSE00000932422_014 ENSE00000932422 014 2 27684585 27684754 - 41 78 51 T A 27684679 513 76 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCTTGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461811 27461812 27461812 exon 25 0.320512820512821 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCTTGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 496 590 0.999167327036879 0.999731851379017 0.999449589207948 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0228798584346238 0.00868425050590804 0.892752103870532 0.983667534737682 NA 0.0157820544702659 NA FALSE NA 1 7.7 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA ATG T,A 8.237e-06 2:27461812 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 3.649956 0.9918 0.99589 0.706548 0.966750946646173 0 2.29011817971014e-18 FALSE 4.06355e-06 ENSE00000932422_016 ENSE00000932422 016 2 27684585 27684754 - 41 78 51 C T 27684683 515 72 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATAGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461815 27461816 27461816 exon 21 0.269230769230769 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATAGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 198 581 0.980774261375301 0.990122038012597 0.985448149693949 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.00448679277304576 -0.000925562860511708 0.892752103870532 0.983667534737682 NA 0.00178061495626702 NA FALSE NA 1 4.563 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA CCA C,T 8.236e-06 2:27461816 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 2.01906 0.98784 0.933 0.706548 0.776564991735479 0 2.29011817971014e-18 FALSE 4.06375e-06 ENSE00000932422_017 ENSE00000932422 017 2 27684585 27684754 - 41 78 51 A G 27684684 516 71 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCACGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461816 27461817 27461817 exon 20 0.256410256410256 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCACGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 398 91 0.992088109590121 0.991180087470411 0.991634098530266 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0158006409878654 0.000132486597301473 0.892752103870532 0.983667534737682 NA 0.00796656379258343 NA FALSE NA 1 8.941 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA CAT A,G 8.236e-06 2:27461817 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 3.085039 0.99193 0.99704 0.706548 0.980390860590866 0 2.29011817971014e-18 FALSE 4.06392e-06 ENSE00000932422_018 ENSE00000932422 018 2 27684585 27684754 - 41 78 51 C T 27684688 517 67 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGACCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461820 27461821 27461821 exon 16 0.205128205128205 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGACCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 631 1325 0.996960719117883 0.811066438069093 0.904013578593488 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0206732505156276 -0.179981162804016 0.892752103870532 0.983667534737682 NA -0.0796539561441942 NA FALSE NA 1 7.488 rs144620711 downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 rs144620711 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 GCC C,T 4.118e-05 2:27461821 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 7.495381 0.99379 0.99578 0.706548 0.999196078214161 0 2.29011817971014e-18 FALSE 3.2514e-05 ENSE00000932422_019 ENSE00000932422 019 2 27684585 27684754 - 41 78 51 C T 27684689 518 66 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAAGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461821 27461822 27461822 exon 15 0.192307692307692 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAAGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 102 500 0.918972867733212 0.997683399487375 0.958328133610294 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA -0.0573146008690433 0.006635798614266 0.892752103870532 0.983667534737682 NA -0.0253394011273886 NA FALSE NA 0.992 0.276 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA CCT C,T 8.236e-06 2:27461822 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 synonymous_variant 1.998925 0.96899 0.69577 0.706548 0.486947016284167 0 2.29011817971014e-18 FALSE 4.06382e-06 ENSE00000932422_021 ENSE00000932422 021 2 27684585 27684754 - 41 78 51 C T 27684697 520 58 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTATGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461829 27461830 27461830 exon 7 0.0897435897435897 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTATGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 15 536 0.953992682213853 0.958617121133098 0.956304901673475 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA -0.0222947863884025 -0.0324304797400113 0.892752103870532 0.983667534737682 NA -0.0273626330642069 NA FALSE NA 0.821 1.429 rs140506322 downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 rs140506322 1 NA T:0.0002 T:0.0005 ACA C,T 0.0001153 2:27461830 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 missense_variant 5.042575 0.36482 0.49634 0.706548 0.998493950701259 0 2.29011817971014e-18 FALSE 0.000113821 ENSE00000932422_022 ENSE00000932422 022 2 27684585 27684754 - 41 78 51 A G 27684701 521 54 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAACGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461833 27461834 27461834 exon 3 0.0384615384615385 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAACGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 325 26 0.994158754826592 0.995484390864227 0.99482157284541 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0178712862243362 0.0044367899911183 0.892752103870532 0.983667534737682 NA 0.0111540381077272 NA FALSE NA 0.029 -0.58 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA CAT A,G 8.236e-06 2:27461834 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 splice_region_variant 0.402916 0.96355 0.14756 0.706548 0.591729092323674 0 2.29011817971014e-18 FALSE 4.06547e-06 ENSE00000932422_023 ENSE00000932422 023 2 27684585 27684754 - 41 78 51 G A 27684708 522 47 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCTCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461840 27461841 27461841 upstr_intron -5 -0.0784313725490196 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCTCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 638 66 0.999612333777088 1 0.999806166888544 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0233248651748319 0.00895239912689083 0.892752103870532 0.983667534737682 NA 0.0161386321508614 NA FALSE NA 1 2.137 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:27461841 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 splice_region_variant 0.255616 0.23194 0.71443 0.062308 0.568673465526566 0.29179 2.29011817971014e-18 FALSE 2.43978e-05 ENSE00000932422_024 ENSE00000932422 024 2 27684585 27684754 - 41 78 51 G C 27684708 523 47 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCGCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461840 27461841 27461841 upstr_intron -5 -0.0784313725490196 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCGCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 227 635 0.968824507730724 0.950344262559134 0.959584385144929 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA -0.00746296087153142 -0.0407033383139755 0.892752103870532 0.983667534737682 NA -0.0240831495927535 NA FALSE NA 1 2.137 NA NA NA IFT172 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT172 NA NA NA ENSG00000138002 ENSE00003585623 splice_region_variant -0.024581 0.24689 0.77267 0.062308 0.529056421072752 0.29179 2.29011817971014e-18 FALSE 2.03315e-05 ENSE00000932422_025 ENSE00000932422 025 2 27684585 27684754 - 41 78 51 C G 27684714 524 41 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTCTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461846 27461847 27461847 upstr_intron -11 -0.196078431372549 TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTCTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 336 302 0.994944599197732 0.999240302335044 0.997092450766388 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0186571305954764 0.00819270146193463 0.892752103870532 0.983667534737682 NA 0.0134249160287055 NA FALSE NA 0 -0.336 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA ACA C,G 2.471e-05 2:27461847 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 intron_variant -0.79574 0.19249 0.04644 0.062308 0.274136077582667 0.164152 2.29011817971014e-18 FALSE 2.44059e-05 ENSE00000932422_026 ENSE00000932422 026 2 27684585 27684754 - 41 78 51 G A 27684729 525 26 TGATCCTCATATCTTTCTGGTGTCCTTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461861 27461862 27461862 upstr_intron -26 -0.490196078431373 TGATCCTCATATCTTTCTGGTGTCCTTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 491 267 1 0.997392391865162 0.998696195932581 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0237125313977443 0.00634479099205332 0.892752103870532 0.983667534737682 NA 0.0150286611948988 NA FALSE NA 0 0.163 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA AGG G,A 8.236e-06 2:27461862 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 intron_variant 0.100562 0.16741 0.01597 0.062308 0.316591868692241 0.149893 2.29011817971014e-18 FALSE 1.22208e-05 ENSE00000932422_029 ENSE00000932422 029 2 27684585 27684754 - 41 78 51 G T 27684738 528 17 TGATCCTCATATCTTTATGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 27461870 27461871 27461871 upstr_intron -35 -0.666666666666667 TGATCCTCATATCTTTATGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT mutant NA NA NA NA NA 30 11 1 1 1 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 NA NA 0.0237125313977443 0.00895239912689083 0.892752103870532 0.983667534737682 NA 0.0163324652623176 NA FALSE NA 0.057 0.408 . downstream_gene_variant MODIFIER IFT172 HGNC 30391 ENST00000489492 1 NA AGA G,T 8.237e-06 2:27461871 IFT172 HGNC Symbol protein_coding 45418 ENSG00000138002 ENSE00003585623 intron_variant 0.111514 0.22602 0.12755 0.062308 0.620529243438642 0.0977633 2.29011817971014e-18 FALSE NA ENSE00000932422_BRK ENSE00000932422 BRK 2 27684585 27684754 - 41 78 51 A,G; T,T NA NA NA TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTTTAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGCCACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT 27461717 27461887 NA NA NA NA NA NA TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTTTAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGCCACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT TGATCCTCATATCTTTCTGGTGTCCCTCTCTGCTCTGCCTGTTTCCCCTAGAATGCTGTGGAGGAGGCCATGGGCATGTACCAGGAGCTACACCGTTGGGATGAGTGTATCGCTGTGGCTGAAGCCAAGGTACCTGTTTTATCTTCTCCACAGTTGTTCAGAATTTGGTT control 128 249 0.0304999674796531 0 0.0152499837398266 785 571 0.00961933789937643 0.000560481808368861 0.00508990985387265 0.836975896951611 0.948528310789453 0.976287468602256 0.991047600873109 -0.806475929471958 -0.948528310789453 -0.966668130702879 -0.99048711906474 0.892752103870532 0.983667534737682 -0.877502120130706 -0.97857762488381 0.101075504753104 TRUE TRUE NA NA NA NA NA IFT172 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT172 NA NA NA ENSG00000138002 ENSE00003585623 NA NA NA NA NA NA NA 2.29011817971014e-18 FALSE NA ENSE00000932513_000 ENSE00000932513 000 2 37410533 37410702 - 35 90 45 NA NA NA NA NA ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 NA NA NA NA NA NA ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT natural NA NA NA NA NA 6144 6476 0.885806978620941 0.922899902949689 0.904353440785315 NA NA 0.885806978620941 0.922899902949689 NA NA 0 0 NA 0.904353440785315 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SULT6B1 NA NA NA ENSG00000138068 ENSE00000932513 NA NA NA NA NA NA NA 3.4792081587007e-11 FALSE NA ENSE00000932513_001 ENSE00000932513 001 2 37410533 37410702 - 35 90 45 T C 37410547 1141 156 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGGTAATTCTTTGAAAT 37183389 37183559 37183403 37183404 37183404 downstr_intron 21 1.61764705882353 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGGTAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 26 484 0.73301641095851 0.839613178182779 0.786314794570645 NA NA 0.885806978620941 0.922899902949689 NA NA -0.152790567662431 -0.0832867247669091 NA 0.904353440785315 NA -0.11803864621467 NA FALSE NA 0 -0.568 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:37183404 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 intron_variant -0.150425 0.13751 0.00504 0.053691 0.622779549711539 0.0603618 3.4792081587007e-11 FALSE 2.87286e-05 ENSE00000932513_002 ENSE00000932513 002 2 37410533 37410702 - 35 90 45 T A 37410547 1142 156 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGTTAATTCTTTGAAAT 37183389 37183559 37183403 37183404 37183404 downstr_intron 21 1.61764705882353 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGTTAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 141 35 0.997343191549964 0.987068542095402 0.992205866822683 NA NA 0.885806978620941 0.922899902949689 NA NA 0.111536212929023 0.064168639145713 NA 0.904353440785315 NA 0.0878524260373679 NA FALSE NA 0 -0.568 NA NA NA SULT6B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SULT6B1 NA NA NA ENSG00000138068 ENSE00000932513 intron_variant 0.076339 0.14128 0.0062 0.053691 0.708455919347679 0.0603618 3.4792081587007e-11 FALSE 4.10408e-06 ENSE00000932513_003 ENSE00000932513 003 2 37410533 37410702 - 35 90 45 A T 37410549 1143 154 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACAGATAATTCTTTGAAAT 37183389 37183559 37183405 37183406 37183406 downstr_intron 19 1.55882352941176 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACAGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 887 239 0.911188731081306 0.899129663899654 0.90515919749048 NA NA 0.885806978620941 0.922899902949689 NA NA 0.0253817524603642 -0.0237702390500348 NA 0.904353440785315 NA 0.000805756705164695 NA FALSE NA 0.008 1.422 . intron_variant MODIFIER SULT6B1 HGNC 33433 ENST00000535679 3/6 1 NA CAG A,T 8.236e-06 2:37183406 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 intron_variant 0.036381 0.20848 0.1029 0.053691 0.653909768151977 0.0603618 3.4792081587007e-11 FALSE 4.10068e-06 ENSE00000932513_004 ENSE00000932513 004 2 37410533 37410702 - 35 90 45 G T 37410550 1144 153 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTAATGATAATTCTTTGAAAT 37183389 37183559 37183406 37183407 37183407 downstr_intron 18 1.52941176470588 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTAATGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 28 608 0.906657157356268 0.94594854469956 0.926302851027914 NA NA 0.885806978620941 0.922899902949689 NA NA 0.0208501787353262 0.0230486417498711 NA 0.904353440785315 NA 0.0219494102425987 NA FALSE NA 0.002 0.62 . intron_variant MODIFIER SULT6B1 HGNC 33433 ENST00000535679 3/6 rs202217613 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 AGT G,T 1.647e-05 2:37183407 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 intron_variant 0.053652 0.18758 0.05765 0.053691 0.57169094335139 0.0603618 3.4792081587007e-11 FALSE 2.04197e-05 ENSE00000932513_005 ENSE00000932513 005 2 37410533 37410702 - 35 90 45 G A 37410554 1145 149 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTTCTACTGATAATTCTTTGAAAT 37183389 37183559 37183410 37183411 37183411 downstr_intron 14 1.41176470588235 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTTCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 43 559 1 0.999433738589881 0.999716869294941 NA NA 0.885806978620941 0.922899902949689 NA NA 0.114193021379059 0.0765338356401924 NA 0.904353440785315 NA 0.0953634285096255 NA FALSE NA 0.005 0.651 rs11569752 intron_variant MODIFIER SULT6B1 HGNC 33433 ENST00000535679 3/6 rs11569752 1 A:0.0136 A:0 A:0.013 NA A:0 A:0.0318 A:0.0276 A:0.0077 A:0.0348 GGA G,A 0.027 2:37183411 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 intron_variant 0.219845 0.15143 0.00229 0.053691 0.589469885775652 0.0603618 3.4792081587007e-11 FALSE 0.0269921 ENSE00000932513_007 ENSE00000932513 007 2 37410533 37410702 - 35 90 45 C T 37410567 1147 136 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGATGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183423 37183424 37183424 downstr_intron 1 1.02941176470588 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGATGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 980 69 0.0337808900897113 0.00467398206420125 0.0192274360769563 NA NA 0.885806978620941 0.922899902949689 NA NA -0.85202608853123 -0.918225920885487 NA 0.904353440785315 NA -0.885126004708359 NA TRUE NA 1 3.696 . splice_donor_variant HIGH SULT6B1 HGNC 33433 ENST00000535679 3/6 1 NA HC ACC C,T 8.237e-06 2:37183424 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 splice_donor_variant 5.54233 0.98272 0.90225 0.053691 0.995267006391244 0.969341 3.4792081587007e-11 FALSE 4.06554e-06 ENSE00000932513_008 ENSE00000932513 008 2 37410533 37410702 - 35 90 45 G C 37410571 1148 132 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCGAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183427 37183428 37183428 exon -4 0.966666666666667 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCGAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 102 801 0.985422492933877 0.940642670915981 0.963032581924929 NA NA 0.885806978620941 0.922899902949689 NA NA 0.0996155143129354 0.0177427679662926 NA 0.904353440785315 NA 0.058679141139614 NA FALSE NA 0.524 0.914 . synonymous_variant LOW SULT6B1 HGNC 33433 ENST00000535679 3/7 1 NA TGG G,C 4.118e-05 2:37183428 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 synonymous_variant 0.720724 0.95185 0.64725 0.497415 0.787124837960363 0 3.4792081587007e-11 FALSE 2.03216e-05 ENSE00000932513_009 ENSE00000932513 009 2 37410533 37410702 - 35 90 45 C G 37410580 1149 123 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGACAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183436 37183437 37183437 exon -13 0.866666666666667 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGACAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 256 152 0.998054808321714 0.974175502523005 0.98611515542236 NA NA 0.885806978620941 0.922899902949689 NA NA 0.112247829700773 0.0512755995733163 NA 0.904353440785315 NA 0.0817617146370446 NA FALSE NA 0.005 0.183 . missense_variant MODERATE SULT6B1 HGNC 33433 ENST00000535679 3/7 1 tolerated(0.15) benign(0.014) NA TCT C,G 1.647e-05 2:37183437 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 missense_variant 2.161409 0.85209 0.4614 0.497415 0.950657881718016 0 3.4792081587007e-11 FALSE 8.12572e-06 ENSE00000932513_010 ENSE00000932513 010 2 37410533 37410702 - 35 90 45 C T 37410582 1150 121 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCAAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183438 37183439 37183439 exon -15 0.844444444444444 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCAAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 628 318 0.9907585450419 0.985666413165985 0.988212479103942 NA NA 0.885806978620941 0.922899902949689 NA NA 0.104951566420958 0.0627665102162962 NA 0.904353440785315 NA 0.0838590383186273 NA FALSE NA 0 -0.449 . missense_variant MODERATE SULT6B1 HGNC 33433 ENST00000535679 3/7 1 tolerated(1) benign(0.004) NA TCG T,T 4.118e-05 2:37183439 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 missense_variant 1.642063 0.72969 0.01915 0.497415 0.536770864747923 0 3.4792081587007e-11 FALSE 3.25026e-05 ENSE00000932513_012 ENSE00000932513 012 2 37410533 37410702 - 35 90 45 T C 37410588 1152 115 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTGTCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183444 37183445 37183445 exon -21 0.777777777777778 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTGTCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 285 1129 0.996927599407809 0.935358755792426 0.966143177600118 NA NA 0.885806978620941 0.922899902949689 NA NA 0.111120620786868 0.0124588528427378 NA 0.904353440785315 NA 0.0617897368148027 NA FALSE NA 0.936 0.994 . missense_variant MODERATE SULT6B1 HGNC 33433 ENST00000535679 3/7 rs199736299 1 tolerated(0.27) benign(0.042) NA ATA T,C 2.471e-05 2:37183445 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 missense_variant 1.187862 0.95418 0.56297 0.497415 0.965058964371538 0 3.4792081587007e-11 FALSE 1.62495e-05 ENSE00000932513_013 ENSE00000932513 013 2 37410533 37410702 - 35 90 45 A G 37410591 1153 112 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGCCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183447 37183448 37183448 exon -24 0.744444444444444 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGCCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 289 116 1 1 1 NA NA 0.885806978620941 0.922899902949689 NA NA 0.114193021379059 0.0771000970503114 NA 0.904353440785315 NA 0.095646559214685 NA FALSE NA 0.993 4.373 . missense_variant MODERATE SULT6B1 HGNC 33433 ENST00000535679 3/7 1 deleterious(0.02) benign(0.337) NA GAC A,G 8.236e-06 2:37183448 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 missense_variant 3.389819 0.97596 0.91515 0.497415 0.998115651644148 0 3.4792081587007e-11 FALSE 4.0622e-06 ENSE00000932513_014 ENSE00000932513 014 2 37410533 37410702 - 35 90 45 C T 37410592 1154 111 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGATCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183448 37183449 37183449 exon -25 0.733333333333333 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGATCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 56 130 1 0.947989421053887 0.973994710526943 NA NA 0.885806978620941 0.922899902949689 NA NA 0.114193021379059 0.0250895181041979 NA 0.904353440785315 NA 0.0696412697416282 NA FALSE NA 0 -0.648 . synonymous_variant LOW SULT6B1 HGNC 33433 ENST00000535679 3/7 1 NA ACC C,T 8.236e-06 2:37183449 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 synonymous_variant 1.939068 0.30147 0.02015 0.497415 0.591641595613541 0 3.4792081587007e-11 FALSE 4.06237e-06 ENSE00000932513_016 ENSE00000932513 016 2 37410533 37410702 - 35 90 45 A C 37410599 1156 104 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATGACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183455 37183456 37183456 exon -32 0.655555555555556 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATGACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 46 872 0.996651731160469 0.971192369744887 0.983922050452678 NA NA 0.885806978620941 0.922899902949689 NA NA 0.110844752539527 0.0482924667951986 NA 0.904353440785315 NA 0.0795686096673628 NA FALSE NA 0.975 4.625 . stop_gained HIGH SULT6B1 HGNC 33433 ENST00000535679 3/7 rs372005005 1 NA HC TAA A,C 4.942e-05 2:37183456 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 stop_gained 12.240045 0.97964 0.93818 0.497415 0.991143262894506 0 3.4792081587007e-11 FALSE 6.09325e-05 ENSE00000932513_018 ENSE00000932513 018 2 37410533 37410702 - 35 90 45 T C 37410608 1158 95 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTGTGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183464 37183465 37183465 exon -41 0.555555555555556 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTGTGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 977 1351 0.996694277173892 0.98838446298105 0.992539370077471 NA NA 0.885806978620941 0.922899902949689 NA NA 0.110887298552951 0.0654845600313616 NA 0.904353440785315 NA 0.0881859292921562 NA FALSE NA 1 1.496 . missense_variant MODERATE SULT6B1 HGNC 33433 ENST00000535679 3/7 1 tolerated(0.1) benign(0.114) NA ATA T,C 8.236e-06 2:37183465 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 missense_variant 2.21902 0.96802 0.73077 0.569682 0.985353876791229 0 3.4792081587007e-11 FALSE 8.12453e-06 ENSE00000932513_020 ENSE00000932513 020 2 37410533 37410702 - 35 90 45 G A 37410616 1160 87 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCATCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183472 37183473 37183473 exon 42 0.466666666666667 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCATCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 162 182 1 0.998919271914274 0.999459635957137 NA NA 0.885806978620941 0.922899902949689 NA NA 0.114193021379059 0.0760193689645853 NA 0.904353440785315 NA 0.0951061951718219 NA FALSE NA 0.99 0.039 . synonymous_variant LOW SULT6B1 HGNC 33433 ENST00000535679 3/7 rs529243641 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGT G,A 2.471e-05 2:37183473 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 synonymous_variant 0.890929 0.94862 0.25333 0.569682 0.595410794841288 0 3.4792081587007e-11 FALSE 8.12513e-06 ENSE00000932513_022 ENSE00000932513 022 2 37410533 37410702 - 35 90 45 C T 37410631 1162 72 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGAATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183487 37183488 37183488 exon 27 0.3 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGAATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 370 90 0.800704912426827 0.8 0.800352456213413 NA NA 0.885806978620941 0.922899902949689 NA NA -0.0851020661941149 -0.122899902949688 NA 0.904353440785315 NA -0.104000984571902 NA FALSE NA 0.056 0.058 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:37183488 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 synonymous_variant 1.743562 0.95738 0.28562 0.569682 0.628282031612549 0 3.4792081587007e-11 FALSE 8.12506e-06 ENSE00000932513_023 ENSE00000932513 023 2 37410533 37410702 - 35 90 45 C G 37410631 1163 72 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGCATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183487 37183488 37183488 exon 27 0.3 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGCATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 29 44 0 0 0 NA NA 0.885806978620941 0.922899902949689 NA NA -0.885806978620941 -0.922899902949689 NA 0.904353440785315 NA -0.904353440785315 NA TRUE NA 0.056 0.058 NA NA NA SULT6B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SULT6B1 NA NA NA ENSG00000138068 ENSE00000932513 missense_variant 5.986541 0.96228 0.61698 0.569682 0.997527285478782 0 3.4792081587007e-11 FALSE 1.21876e-05 ENSE00000932513_024 ENSE00000932513 024 2 37410533 37410702 - 35 90 45 T C 37410640 1164 63 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCGTCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183496 37183497 37183497 exon 18 0.2 ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCGTCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 231 1159 0.991188844675928 0.997777001533546 0.994482923104737 NA NA 0.885806978620941 0.922899902949689 NA NA 0.105381866054986 0.0748770985838576 NA 0.904353440785315 NA 0.0901294823194219 NA FALSE NA 0.55 -0.475 . downstream_gene_variant MODIFIER SULT6B1 HGNC 33433 ENST00000433192 1 NA ATG T,C 8.236e-06 2:37183497 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 synonymous_variant 0.65971 0.95258 0.42935 0.569682 0.765601342720876 0 3.4792081587007e-11 FALSE 8.12651e-06 ENSE00000932513_026 ENSE00000932513 026 2 37410533 37410702 - 35 90 45 A C 37410671 1166 32 ATGCACACACGTGCACATTTTCACCTTTTTGGGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 37183527 37183528 37183528 upstr_intron -14 -0.288888888888889 ATGCACACACGTGCACATTTTCACCTTTTTGGGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT mutant NA NA NA NA NA 155 89 0.0908841249736675 0 0.0454420624868337 NA NA 0.885806978620941 0.922899902949689 NA NA -0.794922853647274 -0.922899902949689 NA 0.904353440785315 NA -0.858911378298481 NA TRUE NA 0.516 2.141 . downstream_gene_variant MODIFIER SULT6B1 HGNC 33433 ENST00000433192 1 NA CAC A,C 8.236e-06 2:37183528 SULT6B1 HGNC Symbol protein_coding 28778 ENSG00000138068 ENSE00000932513 intron_variant 1.42787 0.25139 0.16716 0.053691 0.816810193095408 0.156986 3.4792081587007e-11 FALSE NA ENSE00000932513_BRK ENSE00000932513 BRK 2 37410533 37410702 - 35 90 45 A,G; T,T NA NA NA ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTATTAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGCCGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT 37183389 37183559 NA NA NA NA NA NA ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTATTAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGCCGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT ATGCACACACGTGCACATTTTCACCTTTTTGTGTATATTTTTAAGAGAATGAAAGGCTTTCCATCACCAAGGATTTTGGCAACTCACCTCCACTATGACAAATTACCTGGGTCTATCTTCGAGAATAAAGCCAAGGTGAGTGTCCTTTCCTACTGATAATTCTTTGAAAT control NA NA NA NA NA 378 830 0 0 0 NA NA 0.885806978620941 0.922899902949689 NA NA -0.885806978620941 -0.922899902949689 NA 0.904353440785315 NA -0.904353440785315 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00000932513 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000932985_000 ENSE00000932985 000 10 95385279 95385448 + 53 75 42 NA NA NA NA NA TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT 93625521 93625691 NA NA NA NA NA NA TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT natural 86 25 0.990750445282018 0.996703709177032 0.993727077229525 1417 1295 0.969189503364337 0.798401888898746 0.883795696131541 0.990750445282018 0.996703709177032 0.969189503364337 0.798401888898746 0 0 0 0 0.993727077229525 0.883795696131541 0 0 0 FALSE FALSE NA NA NA NA NA PDE6C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6C NA NA NA ENSG00000095464 ENSE00000932985 NA NA NA NA NA NA NA 7.4249966167879e-08 FALSE NA ENSE00000932985_003 ENSE00000932985 003 10 95385279 95385448 + 53 75 42 C T 95385340 1942 62 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTATGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT 93625521 93625691 93625582 93625583 93625583 exon 9 0.12 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTATGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT mutant NA NA NA NA NA 130 72 0.986253826158367 0.808969630209263 0.897611728183815 0.990750445282018 0.996703709177032 0.969189503364337 0.798401888898746 NA NA 0.0170643227940303 0.0105677413105174 0.993727077229525 0.883795696131541 NA 0.0138160320522738 NA FALSE NA 0.213 -0.464 rs138970846 synonymous_variant LOW PDE6C HGNC 8787 ENST00000371447 5/22 rs138970846 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C 7.413e-05 10:93625583 PDE6C HGNC Symbol protein_coding 53422 ENSG00000095464 ENSE00000932985 synonymous_variant 1.28818 0.7891 0.03876 0.487112 0.507714615985044 0 7.4249966167879e-08 FALSE 6.09711e-05 ENSE00000932985_004 ENSE00000932985 004 10 95385279 95385448 + 53 75 42 A G 95385345 1943 67 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGGATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT 93625521 93625691 93625587 93625588 93625588 exon 14 0.186666666666667 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGGATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT mutant NA NA NA NA NA 56 92 0.981773238446823 1 0.990886619223412 0.990750445282018 0.996703709177032 0.969189503364337 0.798401888898746 NA NA 0.0125837350824862 0.201598111101254 0.993727077229525 0.883795696131541 NA 0.10709092309187 NA FALSE NA 1 5.97 . missense_variant MODERATE PDE6C HGNC 8787 ENST00000371447 5/22 1 tolerated(0.33) probably_damaging(0.967) NA GAA A 8.236e-06 10:93625588 PDE6C HGNC Symbol protein_coding 53422 ENSG00000095464 ENSE00000932985 missense_variant 5.114221 0.98939 0.97813 0.487112 0.998869445482972 0 7.4249966167879e-08 FALSE 4.06438e-06 ENSE00000932985_005 ENSE00000932985 005 10 95385279 95385448 + 53 75 42 A G 95385372 1944 94 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGGGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT 93625521 93625691 93625614 93625615 93625615 exon -35 0.546666666666667 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGGGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT mutant 50 40 0.85 0.85 0.85 NA NA NA NA NA 0.990750445282018 0.996703709177032 0.969189503364337 0.798401888898746 -0.140750445282018 -0.146703709177032 NA NA 0.993727077229525 0.883795696131541 -0.143727077229525 NA NA NA FALSE 0.999 3.184 rs143162788 missense_variant MODERATE PDE6C HGNC 8787 ENST00000371447 5/22 rs143162788 1 tolerated(0.11) possibly_damaging(0.85) NA G:0.0002 G:0 GAG A 8.236e-06 10:93625615 PDE6C HGNC Symbol protein_coding 53422 ENSG00000095464 ENSE00000932985 missense_variant 4.879256 0.97926 0.95483 0.487112 0.998850515714062 0 7.4249966167879e-08 FALSE NA ENSE00000932985_007 ENSE00000932985 007 10 95385279 95385448 + 53 75 42 A G 95385380 1946 102 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATGAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT 93625521 93625691 93625622 93625623 93625623 exon -27 0.653333333333333 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATGAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT mutant NA NA NA NA NA 132 835 0.984632362844424 0.997406144680144 0.991019253762284 0.990750445282018 0.996703709177032 0.969189503364337 0.798401888898746 NA NA 0.0154428594800872 0.199004255781399 0.993727077229525 0.883795696131541 NA 0.107223557630743 NA FALSE NA 1 4.191 . missense_variant MODERATE PDE6C HGNC 8787 ENST00000371447 5/22 1 tolerated(0.37) possibly_damaging(0.895) NA TAA A 8.236e-06 10:93625623 PDE6C HGNC Symbol protein_coding 53422 ENSG00000095464 ENSE00000932985 missense_variant 4.224049 0.98965 0.95595 0.487112 0.998515544158263 0 7.4249966167879e-08 FALSE 4.06517e-06 ENSE00000932985_008 ENSE00000932985 008 10 95385279 95385448 + 53 75 42 G A 95385383 1947 105 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAAGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT 93625521 93625691 93625625 93625626 93625626 exon -24 0.693333333333333 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAAGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT mutant NA NA NA NA NA 313 79 1 1 1 0.990750445282018 0.996703709177032 0.969189503364337 0.798401888898746 NA NA 0.0308104966356628 0.201598111101254 0.993727077229525 0.883795696131541 NA 0.116204303868459 NA FALSE NA 1 9.606 . missense_variant MODERATE PDE6C HGNC 8787 ENST00000371447 5/22 1 tolerated(0.09) probably_damaging(1) NA AGG G 8.236e-06 10:93625626 PDE6C HGNC Symbol protein_coding 53422 ENSG00000095464 ENSE00000932985 missense_variant 5.449507 0.99265 0.99254 0.487112 0.998663607835796 0 7.4249966167879e-08 FALSE 4.06544e-06 ENSE00000932985_010 ENSE00000932985 010 10 95385279 95385448 + 53 75 42 A T 95385404 1949 126 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCTGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT 93625521 93625691 93625646 93625647 93625647 exon -3 0.973333333333333 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCTGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT mutant 29 15 0.996974504862266 0.987276554065085 0.992125529463675 NA NA NA NA NA 0.990750445282018 0.996703709177032 0.969189503364337 0.798401888898746 0.00622405958024752 -0.00942715511194658 NA NA 0.993727077229525 0.883795696131541 -0.00160154776584953 NA NA NA FALSE 1 2.833 . missense_variant&splice_region_variant MODERATE PDE6C HGNC 8787 ENST00000371447 5/22 1 deleterious(0) probably_damaging(1) NA CAG A 8.236e-06 10:93625647 PDE6C HGNC Symbol protein_coding 53422 ENSG00000095464 ENSE00000932985 missense_variant 6.805037 0.9813 0.94078 0.487112 0.999119129172448 0 7.4249966167879e-08 FALSE 4.06855e-06 ENSE00000932985_011 ENSE00000932985 011 10 95385279 95385448 + 53 75 42 C T 95385410 1950 132 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTATGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT 93625521 93625691 93625652 93625653 93625653 downstr_intron 4 1.09756097560976 TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTATGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT TGGTAGGTCATGGAACAGTGTGTTTAATGATACTTAAATCTGATTGCCTCCAGGAATTCTACGATGAATGGCCAATCAAGCTTGGAGAAGTAGAGCCTTATAAAGGTCCAAAGACACCTGATGGCAGGGTACGTGCAAATGTCTTCCTTGATGCCATCTGTGCATGGTGT mutant NA NA NA NA NA 470 79 1 1 1 0.990750445282018 0.996703709177032 0.969189503364337 0.798401888898746 NA NA 0.0308104966356628 0.201598111101254 0.993727077229525 0.883795696131541 NA 0.116204303868459 NA FALSE NA 0.996 0.16 . splice_region_variant&intron_variant LOW PDE6C HGNC 8787 ENST00000371447 5/21 rs371814026&COSM3383101 1 NA T:0.0002 T:0.0002 ACG C 0.0003542 10:93625653 PDE6C HGNC Symbol protein_coding 53422 ENSG00000095464 ENSE00000932985 splice_region_variant 1.456724 0.97402 0.54618 0.06567 0.710485244913255 0.34384 7.4249966167879e-08 FALSE 0.000211773 ENSE00000933325_000 ENSE00000933325 000 10 116197564 116197733 - 39 81 50 NA NA NA NA NA GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 NA NA NA NA NA NA TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC natural 256 313 0.85 0.842913600487934 0.846456800243967 4934 2639 0.920756807739209 0.925596675762735 0.923176741750972 0.85 0.842913600487934 0.920756807739209 0.925596675762735 0 0 0 0 0.846456800243967 0.923176741750972 0 0 0 FALSE FALSE NA NA NA NA NA ABLIM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABLIM1 NA NA NA ENSG00000099204 ENSE00003716256 NA NA NA NA NA NA NA 0.951991965239091 TRUE NA ENSE00000933325_001 ENSE00000933325 001 10 116197564 116197733 - 39 81 50 G C 116197575 2669 159 GATCTGCAGTTCGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437815 114437816 114437816 downstr_intron 28 1.73684210526316 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCGAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 680 1757 0.973942474368102 0.97167571942432 0.972809096896211 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA 0.0531856666288925 0.0460790436615848 0.846456800243967 0.923176741750972 NA 0.0496323551452386 NA FALSE NA 0.01 0.955 . intron_variant MODIFIER ABLIM1 HGNC 78 ENST00000369253 15/15 1 NA TGG G,C 8.236e-06 10:114437816 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 intron_variant 0.115295 0.18716 0.08087 0 0.56910040658332 0.0568955 0.951991965239091 TRUE 8.12658e-06 ENSE00000933325_002 ENSE00000933325 002 10 116197564 116197733 - 39 81 50 G A 116197577 2670 157 GATCTGCAGTTGGAACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437817 114437818 114437818 downstr_intron 26 1.68421052631579 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTTCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 22 316 0.998114231434472 0.988646726901981 0.993380479168227 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA 0.0773574236952628 0.0630500511392458 0.846456800243967 0.923176741750972 NA 0.0702037374172543 NA FALSE NA 0 0.681 . intron_variant MODIFIER ABLIM1 HGNC 78 ENST00000369253 15/15 1 NA GGA G,A 1.647e-05 10:114437818 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 intron_variant 0.47133 0.17474 0.05818 0 0.708360102701206 0.0568955 0.951991965239091 TRUE 1.21874e-05 ENSE00000933325_003 ENSE00000933325 003 10 116197564 116197733 - 39 81 50 A G 116197583 2671 151 GATCTGCAGTTGGGACTGGGTTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437823 114437824 114437824 downstr_intron 20 1.52631578947368 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAACCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 1958 967 0.984347427514357 0.980572044891881 0.982459736203119 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA 0.063590619775148 0.0549753691291455 0.846456800243967 0.923176741750972 NA 0.0592829944521467 NA FALSE NA 0 -1.337 . intron_variant MODIFIER ABLIM1 HGNC 78 ENST00000369253 15/15 1 NA GAT A,G 8.236e-06 10:114437824 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 intron_variant 0.223239 0.10591 0.01183 0 0.371615234021093 0.0734854 0.951991965239091 TRUE 4.06266e-06 ENSE00000933325_004 ENSE00000933325 004 10 116197564 116197733 - 39 81 50 C T 116197589 2672 145 GATCTGCAGTTGGGACTGGATTTTTTGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437829 114437830 114437830 downstr_intron 14 1.36842105263158 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCAAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant 10 22 0.85 0.85 0.85 596 163 0.836940625926537 0.923207891666802 0.880074258796669 0.85 0.842913600487934 0.920756807739209 0.925596675762735 1.11022302462516e-16 0.00708639951206635 -0.083816181812672 -0.00238878409593346 0.846456800243967 0.923176741750972 0.00354319975603323 -0.0431024829543027 0.046645682710336 FALSE FALSE 0 -0.749 rs182180503 intron_variant MODIFIER ABLIM1 HGNC 78 ENST00000369253 15/15 rs182180503 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0006 TCG C,T 0.00117 10:114437830 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 intron_variant 0.198436 0.08281 0.00655 0 0.712670114518677 0.0629642 0.951991965239091 TRUE 0.00128791 ENSE00000933325_005 ENSE00000933325 005 10 116197564 116197733 - 39 81 50 G A 116197590 2673 144 GATCTGCAGTTGGGACTGGATTTTTCAGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437830 114437831 114437831 downstr_intron 13 1.34210526315789 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACTGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant 20 27 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.842913600487934 0.920756807739209 0.925596675762735 1.11022302462516e-16 0.00708639951206647 NA NA 0.846456800243967 0.923176741750972 0.00354319975603329 NA NA NA FALSE 0 -0.736 . intron_variant MODIFIER ABLIM1 HGNC 78 ENST00000369253 15/15 rs375021023 1 NA A:0 A:0.0001 CGG G,A 8.236e-06 10:114437831 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 intron_variant 0.420987 0.17824 0.00757 0 0.711338945665689 0.0629642 0.951991965239091 TRUE 4.06306e-05 ENSE00000933325_006 ENSE00000933325 006 10 116197564 116197733 - 39 81 50 T G 116197595 2674 139 GATCTGCAGTTGGGACTGGATTTTTCGGTTTGGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437835 114437836 114437836 downstr_intron 8 1.21052631578947 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACCAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 656 356 0.97358399033075 0.978560685426994 0.976072337878872 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA 0.052827182591541 0.052964009664259 0.846456800243967 0.923176741750972 NA 0.0528955961279 NA FALSE NA 0.02 1.463 . splice_region_variant&intron_variant LOW ABLIM1 HGNC 78 ENST00000369253 15/15 rs566149113 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TTG T,G 2.471e-05 10:114437836 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 splice_region_variant 0.631689 0.16324 0.06665 0 0.704765197049955 0.0972732 0.951991965239091 TRUE 3.65542e-05 ENSE00000933325_008 ENSE00000933325 008 10 116197564 116197733 - 39 81 50 C T 116197616 2676 118 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTTTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437856 114437857 114437857 exon -14 0.839506172839506 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAAAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant 117 151 0.85 0.85 0.85 674 312 0.854139750423848 0.938663382723754 0.896401566573801 0.85 0.842913600487934 0.920756807739209 0.925596675762735 1.11022302462516e-16 0.00708639951206624 -0.0666170573153608 0.0130667069610185 0.846456800243967 0.923176741750972 0.00354319975603318 -0.0267751751771712 0.0303183749332043 FALSE FALSE 1 7.74 . missense_variant MODERATE ABLIM1 HGNC 78 ENST00000369253 15/16 1 deleterious(0.02) possibly_damaging(0.907) NA TCT C,T 8.236e-06 10:114437857 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 missense_variant 7.647851 0.96777 0.90654 0.758104 0.997389565321184 0 0.951991965239091 TRUE 4.06147e-06 ENSE00000933325_009 ENSE00000933325 009 10 116197564 116197733 - 39 81 50 G A 116197618 2677 116 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTATCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437858 114437859 114437859 exon -16 0.814814814814815 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGATAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 385 269 0.0770112350205138 0.0558162077423405 0.0664137213814271 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA -0.843745572718696 -0.869780468020395 0.846456800243967 0.923176741750972 NA -0.856763020369545 NA TRUE NA 1 4.149 . synonymous_variant LOW ABLIM1 HGNC 78 ENST00000369253 15/16 rs368363945 1 NA A:0 A:0.0001 TGT G,A 2.471e-05 10:114437859 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 synonymous_variant 1.067077 0.91441 0.72462 0.758104 0.870871264639214 0 0.951991965239091 TRUE 8.12249e-06 ENSE00000933325_011 ENSE00000933325 011 10 116197564 116197733 - 39 81 50 C G 116197657 2679 77 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTGACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437897 114437898 114437898 exon 27 0.333333333333333 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTCACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant 94 71 0.85 0.85 0.85 607 184 0.865392060319318 0.8 0.832696030159659 0.85 0.842913600487934 0.920756807739209 0.925596675762735 1.11022302462516e-16 0.00708639951206635 -0.0553647474198917 -0.125596675762735 0.846456800243967 0.923176741750972 0.00354319975603323 -0.0904807115913134 0.0940239113473467 FALSE FALSE 1 1.813 . synonymous_variant LOW ABLIM1 HGNC 78 ENST00000369253 15/16 1 NA TCA C,G 8.236e-06 10:114437898 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 synonymous_variant 1.480648 0.91778 0.61688 0.758104 0.80306716974169 0 0.951991965239091 TRUE 4.06256e-06 ENSE00000933325_012 ENSE00000933325 012 10 116197564 116197733 - 39 81 50 T C 116197662 2680 72 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCACGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437902 114437903 114437903 exon 22 0.271604938271605 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCGTGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 30 302 0.82226528764869 0.989667534637405 0.905966411143047 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA -0.0984915200905198 0.0640708588746699 0.846456800243967 0.923176741750972 NA -0.0172103306079249 NA FALSE NA 1 4.993 . missense_variant MODERATE ABLIM1 HGNC 78 ENST00000369253 15/16 1 tolerated(0.26) benign(0.011) NA ATG T,C 8.236e-06 10:114437903 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 missense_variant 0.867709 0.93761 0.76589 0.758104 0.925458560270707 0 0.951991965239091 TRUE 4.06194e-06 ENSE00000933325_013 ENSE00000933325 013 10 116197564 116197733 - 39 81 50 A G 116197674 2681 60 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATGTGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437914 114437915 114437915 exon 10 0.123456790123457 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCACATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 79 1006 0.999477903454022 0.994319109506246 0.996898506480134 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA 0.0787210957148125 0.0687224337435105 0.846456800243967 0.923176741750972 NA 0.0737217647291615 NA FALSE NA 1 9.245 . missense_variant MODERATE ABLIM1 HGNC 78 ENST00000369253 15/16 1 deleterious(0) probably_damaging(0.994) NA TAT A,G 8.236e-06 10:114437915 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 missense_variant 4.714979 0.93546 0.88993 0.758104 0.997561926705978 0 0.951991965239091 TRUE 4.0623e-06 ENSE00000933325_014 ENSE00000933325 014 10 116197564 116197733 - 39 81 50 T C 116197675 2682 59 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATACGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437915 114437916 114437916 exon 9 0.111111111111111 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCGTATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 708 306 0.999941859410897 0.999626019797818 0.999783939604358 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA 0.0791850516716878 0.0740293440350827 0.846456800243967 0.923176741750972 NA 0.0766071978533852 NA FALSE NA 1 1.065 . synonymous_variant LOW ABLIM1 HGNC 78 ENST00000369253 15/16 rs533821663 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATG T,C 7.413e-05 10:114437916 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 synonymous_variant -0.012566 0.87211 0.52716 0.758104 0.6045347386579 0 0.951991965239091 TRUE 3.65637e-05 ENSE00000933325_015 ENSE00000933325 015 10 116197564 116197733 - 39 81 50 G T 116197691 2683 43 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAATAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437931 114437932 114437932 upstr_intron -8 -0.14 TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTATTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 437 139 0.795501521622673 0.81250494037137 0.804003230997021 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA -0.125255286116537 -0.113091735391365 0.846456800243967 0.923176741750972 NA -0.119173510753951 NA FALSE NA 0.774 0.273 rs139630187 splice_region_variant&intron_variant LOW ABLIM1 HGNC 78 ENST00000369253 14/15 rs139630187 1 T:0.0008 T:0 T:0 NA T:0.004 T:0 T:0 AGA G,T 0.000173 10:114437932 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 splice_region_variant 0.408551 0.2961 0.31085 0.208312 0.573633520272853 0.31027 0.951991965239091 TRUE 0.000121914 ENSE00000933325_017 ENSE00000933325 017 10 116197564 116197733 - 39 81 50 T C 116197709 2685 25 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCCAGAACACCACAGTCCATTTTATTA 114437804 114437974 114437949 114437950 114437950 upstr_intron -26 -0.5 TAATAAAATGGACTGTGGTGTTCTGGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant 62 58 0 0 0 47 138 0 0 0 0.85 0.842913600487934 0.920756807739209 0.925596675762735 -0.85 -0.842913600487934 -0.920756807739209 -0.925596675762735 0.846456800243967 0.923176741750972 -0.846456800243967 -0.923176741750972 0.0767199415070055 TRUE TRUE 0.279 0.953 . intron_variant MODIFIER ABLIM1 HGNC 78 ENST00000369253 14/15 rs371960101 1 C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 CTA T,C 4.942e-05 10:114437950 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 intron_variant 0.126719 0.12791 0.07158 0.208312 0.591940807987258 0.090834 0.951991965239091 TRUE 2.44019e-05 ENSE00000933325_019 ENSE00000933325 019 10 116197564 116197733 - 39 81 50 C T 116197717 2687 17 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACTACAGTCCATTTTATTA 114437804 114437974 114437957 114437958 114437958 upstr_intron -34 -0.66 TAATAAAATGGACTGTAGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant 19 45 0.85 0.85 0.85 1398 494 0.958808554190837 0.952613347250305 0.955710950720571 0.85 0.842913600487934 0.920756807739209 0.925596675762735 1.11022302462516e-16 0.00708639951206635 0.0380517464516276 0.0270166714875695 0.846456800243967 0.923176741750972 0.00354319975603323 0.0325342089695985 0.0289910092135653 FALSE FALSE 0 -5.026 . intron_variant MODIFIER ABLIM1 HGNC 78 ENST00000369253 14/15 1 NA CCA C,T 8.236e-06 10:114437958 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 intron_variant 0.373161 0.04191 0.00262 0.208312 0.819222937607851 0.090834 0.951991965239091 TRUE 4.08083e-06 ENSE00000933325_020 ENSE00000933325 020 10 116197564 116197733 - 39 81 50 G A 116197721 2688 13 GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTACCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATCTGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAATCCATTTTATTA 114437804 114437974 114437961 114437962 114437962 upstr_intron -38 -0.74 TAATAAAATGGATTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC mutant NA NA NA NA NA 1205 91 0.922401126633306 0.998258065225259 0.960329595929283 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA 0.00164431889409677 0.0726613894625239 0.846456800243967 0.923176741750972 NA 0.0371528541783103 NA FALSE NA 0 0.245 . intron_variant MODIFIER ABLIM1 HGNC 78 ENST00000369253 14/15 1 NA AGT G,A 8.236e-06 10:114437962 ABLIM1 HGNC Symbol protein_coding 253890 ENSG00000099204 ENSE00003716256 intron_variant 0.710705 0.1399 0.02378 0.208312 0.751719442370197 0.090834 0.951991965239091 TRUE 4.09065e-06 ENSE00000933325_BRK ENSE00000933325 BRK 10 116197564 116197733 - 39 81 50 A,G; T,T NA NA NA GATCTGCAGTTGGGACTGGATTTTTCGGTTTTGTTTTGGCTCCAGCCTGGTTCTGTCCACCTCTCTGAGGATTTTGTTTCGCCCTCTGTTGGTCACCATGAGCATTTCATATGGAAATATAAGAGAAGAAAGAAAACACCTCTTCTAGAACACCACAGTCCATTTTATTA 114437804 114437974 NA NA NA NA NA NA TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCTTATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGCCAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC TAATAAAATGGACTGTGGTGTTCTAGAAGAGGTGTTTTCTTTCTTCTCAGATATTTCCATATGAAATGCTCATGGTGACCAACAGAGGGCGAAACAAAATCCTCAGAGAGGTGGACAGAACCAGGCTGGAGGTAAAACAAAACCGAAAAATCCAGTCCCAACTGCAGATC control NA NA NA NA NA 277 440 0 0 0 0.85 0.842913600487934 0.920756807739209 0.925596675762735 NA NA -0.920756807739209 -0.925596675762735 0.846456800243967 0.923176741750972 NA -0.923176741750972 NA TRUE NA NA NA NA NA NA ABLIM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABLIM1 NA NA NA ENSG00000099204 ENSE00003716256 NA NA NA NA NA NA NA 0.951991965239091 TRUE NA ENSE00000933530_000 ENSE00000933530 000 10 51582138 51582307 + 45 90 35 NA NA NA NA NA GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 NA NA NA NA NA NA GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT natural 326 296 0.986907041030119 0.995248139382996 0.991077590206557 11172 12955 0.940462940280865 0.965671555341945 0.953067247811405 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0 0 0 0 0.991077590206557 0.953067247811405 0 0 0 FALSE FALSE NA NA NA NA NA NCOA4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA ENSG00000138293 NA NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000933530_001 ENSE00000933530 001 10 51582138 51582307 + 45 90 35 A G 51582157 837 20 GCAGCATAGCATAAATAACGTGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013664 46013665 46013665 upstr_intron -26 -0.555555555555556 GCAGCATAGCATAAATAACGTGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 335 186 0.966821327588974 0.987340899894308 0.977081113741641 2670 2101 0.99399195392384 0.988668265637394 0.991330109780617 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.020085713441145 -0.00790723948868821 0.0535290136429752 0.0229967102954481 0.991077590206557 0.953067247811405 -0.0139964764649166 0.0382628619692117 0.0522593384341283 FALSE FALSE 0 0.241 . intron_variant MODIFIER NCOA4 HGNC 7671 ENST00000374082 5/9 1 NA CAT A,G 8.236e-06 10:46013663 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA intron_variant 0.321378 0.25203 0.20744 0.295142 0.815126583196618 0.153832 0.00856580592851277 FALSE 4.32852e-06 ENSE00000933530_002 ENSE00000933530 002 10 51582138 51582307 + 45 90 35 G C 51582159 838 22 GCAGCATAGCATAAATAACATCATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013662 46013663 46013663 upstr_intron -24 -0.511111111111111 GCAGCATAGCATAAATAACATCATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 33 110 0.991234345547124 0.982180226882059 0.986707286214591 2342 2458 0.992659679102482 0.991385394775753 0.992022536939118 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.00432730451700503 -0.013067912500937 0.0521967388216178 0.0257138394338077 0.991077590206557 0.953067247811405 -0.00437030399196597 0.0389552891277127 0.0433255931196787 FALSE FALSE 0 -0.717 . intron_variant MODIFIER NCOA4 HGNC 7671 ENST00000374082 5/9 1 NA TGA G,C 1.647e-05 10:46013661 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA intron_variant 0.075591 0.17124 0.0777 0.156188 0.702019477577523 0.153832 0.00856580592851277 FALSE 8.61304e-06 ENSE00000933530_003 ENSE00000933530 003 10 51582138 51582307 + 45 90 35 G A 51582179 839 42 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTATAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013642 46013643 46013643 upstr_intron -4 -0.0666666666666667 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTATAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 39 81 0.996053910288464 0.982993667371101 0.989523788829782 6309 1811 0.980884258730215 0.992127205690469 0.986505732210342 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0091468692583454 -0.0122544720118953 0.0404213184493506 0.0264556503485237 0.991077590206557 0.953067247811405 -0.00155380137677497 0.0334384843989372 0.0349922857757121 FALSE FALSE 0.897 0.297 . splice_region_variant&intron_variant LOW NCOA4 HGNC 7671 ENST00000374082 5/9 1 NA TGT G,A 8.236e-06 10:46013641 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA splice_acceptor_variant 0.031278 0.19829 0.01021 0.295142 0.443824842955028 0.169835 0.00856580592851277 FALSE 4.20932e-06 ENSE00000933530_004 ENSE00000933530 004 10 51582138 51582307 + 45 90 35 A G 51582185 840 48 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAGATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013636 46013637 46013637 exon 3 0.0333333333333333 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAGATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 190 149 0.997547632577455 0.999860666567859 0.998704149572657 2571 3467 0.937783342167371 0.995963371221142 0.966873356694256 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0106405915473361 0.0046125271848626 -0.0026795981134935 0.0302918158791965 0.991077590206557 0.953067247811405 0.00762655936609935 0.0138061088828515 0.00617954951675215 FALSE FALSE 1 4.248 . splice_region_variant&synonymous_variant LOW NCOA4 HGNC 7671 ENST00000374082 6/10 1 NA AAA A,G 8.236e-06 10:46013635 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant 1.498371 0.98066 0.95145 0.732398 0.889594537102454 0 0.00856580592851277 FALSE 4.15162e-06 ENSE00000933530_005 ENSE00000933530 005 10 51582138 51582307 + 45 90 35 A G 51582186 841 49 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAGTTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013635 46013636 46013636 exon 4 0.0444444444444444 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAGTTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 109 124 0.99977095187514 0.999410238499503 0.999590595187321 3779 2796 0.997118029941122 0.991976825761094 0.994547427851108 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.012863910845021 0.00416209911650689 0.0566550896602569 0.0263052704191491 0.991077590206557 0.953067247811405 0.00851300498076396 0.041480180039703 0.032967175058939 FALSE FALSE 1 1.953 . missense_variant MODERATE NCOA4 HGNC 7671 ENST00000374082 6/10 1 benign(0.046) NA AAT A,G 8.236e-06 10:46013634 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA synonymous_variant 0.512407 0.96284 0.86635 0.732398 0.99597962960607 0 0.00856580592851277 FALSE NA ENSE00000933530_006 ENSE00000933530 006 10 51582138 51582307 + 45 90 35 T G 51582191 842 54 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCGGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013630 46013631 46013631 exon 9 0.1 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCGGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 75 88 0.993058319417382 0.993141940418495 0.993100129917939 2178 3898 0.999962203914206 0.973119630298837 0.986540917106521 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.00615127838726348 -0.00210619896450093 0.0594992636333409 0.00744807495689115 0.991077590206557 0.953067247811405 0.00202253971138128 0.033473669295116 0.0314511295837347 FALSE FALSE 1 0.921 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:46013629 NCOA4 HGNC Symbol protein_coding 25626 NA NA missense_variant 1.138359 0.97053 0.85388 0.732398 0.899009986001694 0 0.00856580592851277 FALSE 4.10132e-06 ENSE00000933530_007 ENSE00000933530 007 10 51582138 51582307 + 45 90 35 T C 51582191 843 54 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCCGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013630 46013631 46013631 exon 9 0.1 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCCGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 76 49 1 0.997903821558835 0.998951910779418 NA NA NA NA NA 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0130929589698814 0.00265568217583934 NA NA 0.991077590206557 0.953067247811405 0.00787432057286036 NA NA NA FALSE 1 0.921 NA NA NA NCOA4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA ENSG00000138293 NA missense_variant 0.680113 0.96981 0.81194 0.732398 0.904401751270335 0 0.00856580592851277 FALSE 8.20264e-06 ENSE00000933530_008 ENSE00000933530 008 10 51582138 51582307 + 45 90 35 A G 51582196 844 59 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCGCTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013625 46013626 46013626 exon 14 0.155555555555556 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCGCTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 100 84 0.998000656515046 0.995936817565839 0.996968737040443 2661 2409 0.977519274203151 0.98281131896716 0.980165296585155 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0110936154849273 0.000688678182843128 0.0370563339222859 0.0171397636252146 0.991077590206557 0.953067247811405 0.0058911468338852 0.0270980487737503 0.0212069019398651 FALSE FALSE 0.999 2.637 . missense_variant MODERATE NCOA4 HGNC 7671 ENST00000374082 6/10 1 possibly_damaging(0.732) NA CAC A,G 8.236e-06 10:46013624 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA synonymous_variant 3.525441 0.96348 0.84024 0.732398 0.954392056743173 0 0.00856580592851277 FALSE 4.08083e-06 ENSE00000933530_009 ENSE00000933530 009 10 51582138 51582307 + 45 90 35 G T 51582204 845 67 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGTCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013617 46013618 46013618 exon 22 0.244444444444444 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGTCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 41 46 0.997570428557289 0.991844736686297 0.994707582621793 1663 3449 0.997303784973073 0.999932063917936 0.998617924445504 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0106633875271707 -0.00340340269669859 0.0568408446922084 0.0342605085759906 0.991077590206557 0.953067247811405 0.00362999241523604 0.0455506766340995 0.0419206842188635 FALSE FALSE 0.971 0.317 . missense_variant MODERATE NCOA4 HGNC 7671 ENST00000374082 6/10 1 benign(0.345) NA GGC G,T 8.236e-06 10:46013616 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA synonymous_variant 1.707031 0.95399 0.77717 0.732398 0.963451265185088 0 0.00856580592851277 FALSE 8.13425e-06 ENSE00000933530_010 ENSE00000933530 010 10 51582138 51582307 + 45 90 35 A G 51582208 846 71 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCGTGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013613 46013614 46013614 exon 26 0.288888888888889 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCGTGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 107 122 0.996668393973053 0.993697460709137 0.995182927341095 1956 3119 0.848105496209353 0.997058904047015 0.922582200128184 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.00976135294293479 -0.00155067867385861 -0.092357444071512 0.0313873487050694 0.991077590206557 0.953067247811405 0.00410533713453809 -0.0304850476832213 0.0345903848177594 FALSE FALSE 1 2.669 . missense_variant MODERATE NCOA4 HGNC 7671 ENST00000374082 6/10 1 possibly_damaging(0.494) NA CAT A,G 8.236e-06 10:46013612 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant 3.354954 0.96689 0.83174 0.732398 0.995027277521978 0 0.00856580592851277 FALSE 4.06626e-06 ENSE00000933530_011 ENSE00000933530 011 10 51582138 51582307 + 45 90 35 A C 51582218 847 81 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCCGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013603 46013604 46013604 exon 36 0.4 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCCGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 122 245 0.99750137533844 0.990989057843248 0.994245216590844 5207 1609 0.99569309310714 0.998706236071448 0.997199664589294 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0105943343083214 -0.00425908153974797 0.055230152826275 0.033034680729503 0.991077590206557 0.953067247811405 0.00316762638428669 0.044132416777889 0.0409647903936023 FALSE FALSE 0.98 0.787 . synonymous_variant LOW NCOA4 HGNC 7671 ENST00000374082 6/10 rs372877272 1 NA C:0.0002 C:0 CAG A,C 8.236e-06 10:46013602 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant 0.015367 0.36185 0.48819 0.732398 0.821662806266438 0 0.00856580592851277 FALSE 4.06607e-06 ENSE00000933530_012 ENSE00000933530 012 10 51582138 51582307 + 45 90 35 C T 51582237 848 100 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCTTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013584 46013585 46013585 exon -36 0.611111111111111 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCTTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 154 152 0.85 0.85 0.85 496 1401 0.95 0.94859731386106 0.94929865693053 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.136907041030119 -0.145248139382996 0.00953705971913532 -0.0170742414808851 0.991077590206557 0.953067247811405 -0.141077590206557 -0.00376859088087489 0.137308999325682 FALSE FALSE 0.002 -0.537 . synonymous_variant LOW NCOA4 HGNC 7671 ENST00000374082 6/10 1 NA CCT C,T 8.236e-06 10:46013583 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA synonymous_variant 2.159729 0.13301 0.02226 0.732398 0.663969631287018 0 0.00856580592851277 FALSE 8.13398e-06 ENSE00000933530_013 ENSE00000933530 013 10 51582138 51582307 + 45 90 35 T C 51582238 849 101 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCCGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013583 46013584 46013584 exon -35 0.622222222222222 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCCGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 177 193 0.992774877779994 0.989319536149576 0.991047206964785 3008 3551 0.963117618051294 0.995203721807085 0.97916066992919 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.00586783674987523 -0.00592860323341993 0.0226546777704296 0.0295321664651401 0.991077590206557 0.953067247811405 -3.03832417723471e-05 0.0260934221177849 0.0261238053595572 FALSE FALSE 0.226 2.224 . missense_variant MODERATE NCOA4 HGNC 7671 ENST00000374082 6/10 1 benign(0.086) NA CTG T,C 1.647e-05 10:46013582 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant 2.562219 0.31605 0.26117 0.732398 0.998554551223892 0 0.00856580592851277 FALSE 8.13438e-06 ENSE00000933530_014 ENSE00000933530 014 10 51582138 51582307 + 45 90 35 G A 51582245 850 108 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAAAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013576 46013577 46013577 exon -28 0.7 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAAAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 950 1558 0.817600260679481 0.837911988336081 0.827756124507781 4987 2131 0.912211110785366 0.922391972845575 0.917301541815471 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.169306780350638 -0.157336151046915 -0.0282518294954986 -0.0432795824963702 0.991077590206557 0.953067247811405 -0.163321465698776 -0.0357657059959344 0.127555759702842 FALSE FALSE 0.943 0.096 . synonymous_variant LOW NCOA4 HGNC 7671 ENST00000374082 6/10 1 NA AGA G,A 2.471e-05 10:46013575 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant 1.470529 0.91638 0.26429 0.732398 0.616683756420316 0 0.00856580592851277 FALSE 1.2199e-05 ENSE00000933530_015 ENSE00000933530 015 10 51582138 51582307 + 45 90 35 G C 51582247 851 110 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGACAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013574 46013575 46013575 exon -26 0.722222222222222 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGACAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 293 396 0.922224356767877 0.906934156706658 0.914579256737268 5748 1842 0.980219257182258 0.859628937169914 0.919924097176086 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.0646826842622412 -0.0883139826763379 0.039756316901393 -0.106042618172032 0.991077590206557 0.953067247811405 -0.0764983334692896 -0.0331431506353193 0.0433551828339703 FALSE FALSE 0.884 2.12 . missense_variant MODERATE NCOA4 HGNC 7671 ENST00000374082 6/10 1 benign(0.357) NA AGA G,C 8.236e-06 10:46013573 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant 3.541743 0.96384 0.91422 0.732398 0.978890279066985 0 0.00856580592851277 FALSE 4.06626e-06 ENSE00000933530_016 ENSE00000933530 016 10 51582138 51582307 + 45 90 35 C G 51582251 852 114 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGGTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013570 46013571 46013571 exon -22 0.766666666666667 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGGTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 968 1300 0.811700420184506 0.839174693821689 0.825437557003098 1650 2009 0.855108250154536 0.69205117033625 0.773579710245393 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.175206620845613 -0.156073445561307 -0.0853546901263289 -0.273620385005696 0.991077590206557 0.953067247811405 -0.16564003320346 -0.179487537566012 0.0138475043625525 FALSE FALSE 0.006 -0.447 . synonymous_variant LOW NCOA4 HGNC 7671 ENST00000374082 6/10 rs377224381 1 NA G:0 G:0.0001 GCT C,G 8.236e-06 10:46013569 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant 0.713763 0.16646 0.05764 0.732398 0.636793868796455 0 0.00856580592851277 FALSE NA ENSE00000933530_017 ENSE00000933530 017 10 51582138 51582307 + 45 90 35 G A 51582253 853 116 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTATATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013568 46013569 46013569 exon -20 0.788888888888889 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTATATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 196 167 0.671051981832584 0.797541131614605 0.734296556723594 915 117 0.829088724018051 0.8940741279773 0.861581425997676 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.315855059197535 -0.197707007768391 -0.111374216262813 -0.071597427364645 0.991077590206557 0.953067247811405 -0.256781033482963 -0.0914858218137292 0.165295211669234 FALSE FALSE 0 -0.15 . missense_variant MODERATE NCOA4 HGNC 7671 ENST00000374082 6/10 COSM465715 1 benign(0) NA TGT G,A 8.236e-06 10:46013567 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant -2.239118 0.09742 0.00576 0.732398 0.306868371931163 0 0.00856580592851277 FALSE 4.06772e-06 ENSE00000933530_018 ENSE00000933530 018 10 51582138 51582307 + 45 90 35 C T 51582257 854 120 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATTTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013564 46013565 46013565 exon -16 0.833333333333333 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATTTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 517 970 0.857092283586299 0.858664250097823 0.857878266842061 1325 2313 0.891852506170927 0.925879344158466 0.908865925164696 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.12981475744382 -0.136583889285173 -0.0486104341099379 -0.0397922111834799 0.991077590206557 0.953067247811405 -0.133199323364497 -0.0442013226467089 0.0889980007177879 FALSE FALSE 0 -0.204 . synonymous_variant LOW NCOA4 HGNC 7671 ENST00000374082 6/10 1 NA TCT C,T 8.236e-06 10:46013563 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA missense_variant 0.831156 0.15906 0.02711 0.732398 0.494648243736301 0 0.00856580592851277 FALSE 4.06947e-06 ENSE00000933530_019 ENSE00000933530 019 10 51582138 51582307 + 45 90 35 C A 51582265 855 128 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCAAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013556 46013557 46013557 exon -8 0.922222222222222 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCAAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 38 88 1 0.986955136701677 0.993477568350839 2583 4323 0.995426720743258 0.970959537602959 0.983193129173108 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0130929589698814 -0.00829300268131861 0.0549637804623936 0.00528798226101335 0.991077590206557 0.953067247811405 0.00239997814428139 0.0301258813617035 0.0277259032174221 FALSE FALSE 0.977 0.163 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:46013555 NCOA4 HGNC Symbol protein_coding 25626 NA NA stop_gained 1.314985 0.95648 0.65406 0.732398 0.835294687706046 0 0.00856580592851277 FALSE 4.07611e-06 ENSE00000933530_020 ENSE00000933530 020 10 51582138 51582307 + 45 90 35 C T 51582265 856 128 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCTAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013556 46013557 46013557 exon -8 0.922222222222222 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCTAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 213 617 0.85 0.85 0.85 1287 3753 0.813542311811847 0.800688404804865 0.807115358308356 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.136907041030119 -0.145248139382996 -0.126920628469018 -0.16498315053708 0.991077590206557 0.953067247811405 -0.141077590206557 -0.145951889503049 0.00487429929649169 FALSE FALSE 0.977 0.163 NA NA NA NCOA4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA ENSG00000138293 NA missense_variant 1.950803 0.95518 0.5909 0.732398 0.897780800543568 0 0.00856580592851277 FALSE 4.07611e-06 ENSE00000933530_021 ENSE00000933530 021 10 51582138 51582307 + 45 90 35 A G 51582278 857 141 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAGTATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013543 46013544 46013544 downstr_intron 6 1.17647058823529 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAGTATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 148 114 0.985872488570724 0.990487110556276 0.9881797995635 NA NA NA NA NA 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.00103455245939421 -0.00476102882671947 NA NA 0.991077590206557 0.953067247811405 -0.00289779064305684 NA NA NA FALSE 0 -0.608 . splice_region_variant&intron_variant LOW NCOA4 HGNC 7671 ENST00000374082 6/9 rs369783841 1 NA G:0 G:0.0001 AAT A,G 8.237e-06 10:46013542 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA splice_region_variant -0.44065 0.11911 0.03056 0.099367 0.532131488647725 0.234428 0.00856580592851277 FALSE 4.12821e-06 ENSE00000933530_022 ENSE00000933530 022 10 51582138 51582307 + 45 90 35 T C 51582281 858 144 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATACCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013540 46013541 46013541 downstr_intron 9 1.26470588235294 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATACCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 67 33 0.981164356573686 0.992465382710463 0.986814869642074 2575 1471 0.994541953192025 0.995895679661063 0.995218816426544 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.00574268445643311 -0.00278275667253292 0.0540790129111604 0.0302241243191178 0.991077590206557 0.953067247811405 -0.00426272056448301 0.0421515686151391 0.0464142891796221 FALSE FALSE 0 0.185 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:46013539 NCOA4 HGNC Symbol protein_coding 25626 NA NA intron_variant -0.169089 0.14224 0.01437 0.099367 0.570921851374492 0.153832 0.00856580592851277 FALSE 4.15714e-06 ENSE00000933530_023 ENSE00000933530 023 10 51582138 51582307 + 45 90 35 T A 51582281 859 144 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATAACATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013540 46013541 46013541 downstr_intron 9 1.26470588235294 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATAACATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 96 71 0.995489208515811 0.981900413139641 0.988694810827726 2948 1283 0.993359571005339 0.993936026750222 0.993647798877781 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.00858216748569252 -0.013347726243355 0.0528966307244748 0.0282644714082768 0.991077590206557 0.953067247811405 -0.00238277937883125 0.0405805510663758 0.0429633304452071 FALSE FALSE 0 0.185 NA NA NA NCOA4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA ENSG00000138293 NA intron_variant 0.077334 0.1506 0.09944 0.099367 0.41841476517013 0.153832 0.00856580592851277 FALSE 8.31428e-06 ENSE00000933530_024 ENSE00000933530 024 10 51582138 51582307 + 45 90 35 C T 51582282 860 145 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATTATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013539 46013540 46013540 downstr_intron 10 1.29411764705882 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATTATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 70 91 0.993908904168078 0.989252548992366 0.991580726580222 1584 2341 0.993068159454138 0.983294573978612 0.988181366716375 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.00700186313795981 -0.00599559039063025 0.0526052191732738 0.0176230186366666 0.991077590206557 0.953067247811405 0.000503136373664781 0.0351141189049702 0.0346109825313054 FALSE FALSE 0 -1.164 . intron_variant MODIFIER NCOA4 HGNC 7671 ENST00000374082 6/9 1 NA TCA C,T 8.237e-06 10:46013538 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA intron_variant 0.151692 0.15669 0.04368 0.099367 0.24417386185638 0.153832 0.00856580592851277 FALSE 1.24705e-05 ENSE00000933530_025 ENSE00000933530 025 10 51582138 51582307 + 45 90 35 T C 51582285 861 148 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATCTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 46013536 46013537 46013537 downstr_intron 13 1.38235294117647 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATCTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 35 20 0.998000656515046 1 0.999000328257523 2170 2874 0.99471575022574 0.997401391206854 0.996058570716297 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0110936154849275 0.00475186061700406 0.0542528099448752 0.0317298358649084 0.991077590206557 0.953067247811405 0.00792273805096577 0.0429913229048918 0.0350685848539261 FALSE FALSE 0.044 0.992 . intron_variant MODIFIER NCOA4 HGNC 7671 ENST00000374082 6/9 1 NA TTT T,C 1.647e-05 10:46013535 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA intron_variant 0.150374 0.18317 0.18269 0.099367 0.584294763540886 0.153832 0.00856580592851277 FALSE 1.66481e-05 ENSE00000933530_026 ENSE00000933530 026 10 51582138 51582307 + 45 90 35 G A 51582288 862 151 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTATTTTTGGTAATTGAGTCAT 46013514 46013684 46013533 46013534 46013534 downstr_intron 16 1.47058823529412 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTATTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 66 85 0.998220169871321 0.991681936415871 0.994951053143596 2286 959 0.910583039690137 0.992428605181983 0.95150582243606 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.0113131288412021 -0.0035662029671254 -0.0298799005907279 0.0267570498400376 0.991077590206557 0.953067247811405 0.00387346293703833 -0.00156142537534515 0.00543488831238348 FALSE FALSE 0 -1.418 . intron_variant MODIFIER NCOA4 HGNC 7671 ENST00000374082 6/9 1 NA TGT G,A 8.237e-06 10:46013532 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA intron_variant -0.004312 0.15636 0.08073 0.099367 0.43978559028129 0.153832 0.00856580592851277 FALSE 4.17725e-06 ENSE00000933530_027 ENSE00000933530 027 10 51582138 51582307 + 45 90 35 T C 51582293 863 156 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTCGGTAATTGAGTCAT 46013514 46013684 46013528 46013529 46013529 downstr_intron 21 1.61764705882353 GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTCGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT mutant 42 68 0.998260763633102 0.999767030106138 0.99901389686962 NA NA NA NA NA 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 0.011353722602983 0.00451889072314215 NA NA 0.991077590206557 0.953067247811405 0.00793630666306255 NA NA NA FALSE 0.001 1.123 rs184277426 intron_variant MODIFIER NCOA4 HGNC 7671 ENST00000374082 6/9 rs184277426 1 C:0.0034 C:0.0129 C:0 NA C:0 C:0 C:0 C:0.0107 C:0 TTG T,C 0.0008813 10:46013527 NCOA4 HGNC Symbol protein_coding 25626 ENSG00000138293 NA intron_variant 0.312546 0.25132 0.25662 0.099367 0.811406674700226 0.153832 0.00856580592851277 FALSE 0.000706882 ENSE00000933530_BRK ENSE00000933530 BRK 10 51582138 51582307 + 45 90 35 A,G; T,T NA NA NA GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTTTCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGCCAAAATATCATTTTGTTTTTGGTAATTGAGTCAT 46013514 46013684 NA NA NA NA NA NA GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTTTCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGCCAAAATATCATTTTGTTTTTGGTAATTGAGTCAT GCAGCATAGCATAAATAACATGATTAAATTATCTCTATTTTGTAGCAAATTCCTGAGCACTTGATGGCTCATGCTAGTTCAGCAAATATTGGGCCCTTCCTGGAGAAGAGAGGCTGTATCTCCATGCCAGAGCAGGTAAAATATCATTTTGTTTTTGGTAATTGAGTCAT control 1020 1060 0.0141311920064926 0.000613530861268469 0.00737236143388051 1396 3247 0.00280811451981336 0.00247292345278842 0.00264051898630089 0.986907041030119 0.995248139382996 0.940462940280865 0.965671555341945 -0.972775849023626 -0.994634608521727 -0.937654825761051 -0.963198631889157 0.991077590206557 0.953067247811405 -0.983705228772677 -0.950426728825104 0.0332784999475726 TRUE TRUE NA NA NA NA NA NCOA4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA ENSG00000138293 NA NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000933713_000 ENSE00000933713 000 10 71682417 71682586 + 47 87 36 NA NA NA NA NA AGCACCTCCCCAACACCAATTCCAGGGAACACTCACCTTTGGCCCTGGGGGCCCAGGGAGCCCTGGAGGGCCAGGTTCCCCTCTGCCTCCTCCAATGGAGTTGCCAGCATCGCCTTTCTCTCCCTGGGGGTGGAAGGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 NA NA NA NA NA NA AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT natural 124 135 0.703020030225414 0.737542888355444 0.720281459290429 2312 984 0.965296672149465 0.838413987309258 0.901855329729361 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 0 0 0 0 0.720281459290429 0.901855329729361 0 0 0 FALSE FALSE NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933713 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933713_004 ENSE00000933713 004 10 71682417 71682586 + 47 87 36 C T 71682451 1340 35 AGCACCTCCCCAACACCAATTCCAGGGAACACTCACCTTTGGCCCTGGGGGCCCAGGGAGCCCTGGAGGGCCAGGTTCCCCTCTGCCTCCTCCAATGGAGTTGCCAGCATCGCCTTTCTCTCCCTGGGGGTGGAAAGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 69922694 69922695 69922695 upstr_intron -13 -0.25531914893617 AGACCTTCCTCCACACCAGGGATGCTAACTCCACTTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT mutant NA NA NA NA NA 188 12 0.997119048485197 1 0.998559524242599 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 NA NA 0.0318223763357326 0.161586012690742 0.720281459290429 0.901855329729361 NA 0.0967041945132375 NA FALSE NA 0.001 -0.216 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 20/36 1 NA CCT C,T 8.294e-06 10:69922695 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933713 intron_variant 0.735919 0.20943 0.00573 0.088506 0.529766248131594 0.0979669 0.0039289675922385 FALSE 2.29274e-05 ENSE00000933713_007 ENSE00000933713 007 10 71682417 71682586 + 47 87 36 C A 71682475 1343 59 AGCACCTCCCCAACACCAATTCCAGGGAACACTCACCTTTGGCCCTGGGGGCCCAGGGAGCCCTGGAGGGCCAGGTTCCCCTCTGCCTCCTCCAATGGAGTTGCCAGCATCTCCTTTCTCTCCCTGGGGGTGGAAGGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 69922718 69922719 69922719 exon 12 0.137931034482759 AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGAGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT mutant 18 77 0.928181469743336 0.85 0.889090734871668 NA NA NA NA NA 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 0.225161439517922 0.112457111644556 NA NA 0.720281459290429 0.901855329729361 0.168809275581239 NA NA NA FALSE 0 -5.136 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 21/37 1 NA GCG C,A 1.657e-05 10:69922719 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933713 synonymous_variant 2.554576 0.2021 0.00759 0.732398 0.594899590539902 0 0.0039289675922385 FALSE NA ENSE00000933713_008 ENSE00000933713 008 10 71682417 71682586 + 47 87 36 G A 71682476 1344 60 AGCACCTCCCCAACACCAATTCCAGGGAACACTCACCTTTGGCCCTGGGGGCCCAGGGAGCCCTGGAGGGCCAGGTTCCCCTCTGCCTCCTCCAATGGAGTTGCCAGCATTGCCTTTCTCTCCCTGGGGGTGGAAGGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 69922719 69922720 69922720 exon 13 0.149425287356322 AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCAATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT mutant 30 66 0.85 0.85 0.85 430 106 0.815994780283992 0.852463625467404 0.834229202875698 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 0.146979969774586 0.112457111644556 -0.149301891865472 0.0140496381581461 0.720281459290429 0.901855329729361 0.129718540709571 -0.0676261268536631 0.197344667563234 FALSE FALSE 0.998 3.318 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 21/37 1 tolerated(0.06) probably_damaging(0.985) NA CGA G,A 4.142e-05 10:69922720 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933713 missense_variant 5.181572 0.96334 0.8215 0.732398 0.997137393101752 0 0.0039289675922385 FALSE NA ENSE00000933713_012 ENSE00000933713 012 10 71682417 71682586 + 47 87 36 T C 71682493 1348 77 AGCACCTCCCCAACACCAATTCCAGGGAACACTCACCTTTGGCCCTGGGGGCCCAGGGAGCCCTGGAGGGCCAGGTTCCCCTCTGCCTCCTCCGATGGAGTTGCCAGCATCGCCTTTCTCTCCCTGGGGGTGGAAGGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 69922736 69922737 69922737 exon 30 0.344827586206897 AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATCGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT mutant NA NA NA NA NA 61 120 1 1 1 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 NA NA 0.0347033278505354 0.161586012690742 0.720281459290429 0.901855329729361 NA 0.0981446702706389 NA FALSE NA 1 0.269 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 21/37 1 NA TTG T,C 8.287e-06 10:69922737 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933713 synonymous_variant 0.543269 0.97301 0.75674 0.732398 0.797433787825989 0 0.0039289675922385 FALSE NA ENSE00000933713_013 ENSE00000933713 013 10 71682417 71682586 + 47 87 36 G A 71682504 1349 88 AGCACCTCCCCAACACCAATTCCAGGGAACACTCACCTTTGGCCCTGGGGGCCCAGGGAGCCCTGGAGGGCCAGGTTCCCCTTTGCCTCCTCCAATGGAGTTGCCAGCATCGCCTTTCTCTCCCTGGGGGTGGAAGGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 69922747 69922748 69922748 exon 41 0.471264367816092 AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAAAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT mutant 761 664 0.85 0.848327281460264 0.849163640730132 1011 16 0.936745986682558 0.940283741200428 0.938514863941493 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 0.146979969774586 0.11078439310482 -0.0285506854669065 0.10186975389117 0.720281459290429 0.901855329729361 0.128882181439703 0.0366595342121318 0.092222647227571 FALSE FALSE 1 3.208 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 21/37 1 tolerated(0.75) benign(0.413) NA AGA G,A 8.29e-06 10:69922748 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933713 missense_variant 4.929008 0.9832 0.73349 0.732398 0.97344417296883 0 0.0039289675922385 FALSE NA ENSE00000933713_014 ENSE00000933713 014 10 71682417 71682586 + 47 87 36 C A 71682527 1350 111 AGCACCTCCCCAACACCAATTCCAGGGAACACTCACCTTTGGCCCTGGGGGCCCAGGGATCCCTGGAGGGCCAGGTTCCCCTCTGCCTCCTCCAATGGAGTTGCCAGCATCGCCTTTCTCTCCCTGGGGGTGGAAGGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 69922770 69922771 69922771 exon -24 0.735632183908046 AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGATCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT mutant NA NA NA NA NA 127 66 1 0.997596142931553 0.998798071465776 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 NA NA 0.0347033278505354 0.159182155622295 0.720281459290429 0.901855329729361 NA 0.0969427417364153 NA FALSE NA 1 1.221 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 21/37 1 tolerated(0.21) possibly_damaging(0.45) NA GCT C,A 1.665e-05 10:69922771 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933713 missense_variant 2.948713 0.97548 0.88193 0.732398 0.963885329785491 0 0.0039289675922385 FALSE NA ENSE00000933713_015 ENSE00000933713 015 10 71682417 71682586 + 47 87 36 C T 71682536 1351 120 AGCACCTCCCCAACACCAATTCCAGGGAACACTCACCTTTGGCCCTGGGGACCCAGGGAGCCCTGGAGGGCCAGGTTCCCCTCTGCCTCCTCCAATGGAGTTGCCAGCATCGCCTTTCTCTCCCTGGGGGTGGAAGGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 69922779 69922780 69922780 exon -15 0.839080459770115 AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGTCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT mutant NA NA NA NA NA 50 86 0.995810548949701 1 0.99790527447485 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 NA NA 0.030513876800236 0.161586012690742 0.720281459290429 0.901855329729361 NA 0.0960499447454892 NA FALSE NA 0.998 4.029 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 21/37 1 tolerated(0.1) probably_damaging(0.999) NA GCC C,T 3.341e-05 10:69922780 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933713 missense_variant 4.822285 0.99087 0.96846 0.732398 0.996947394329614 0 0.0039289675922385 FALSE 4.45695e-05 ENSE00000933713_BRK ENSE00000933713 BRK 10 71682417 71682586 + 47 87 36 A,G; T,T NA NA NA AGCACCTCCCCAACACCAATTCCAGGGAACACTCGGCTTTGGCCCTGGGGGCCCAGGGAGCCCTGGAGGGCCAGGTTCCCCTCTGCCTCCTCCAATGGAGTTGCCAGCATCGCCTTTCTCTCCAAGGGGGTGGAAGGTGGAGTTAGCATCCCTGGTGTGGAGGAAGGTCT 69922660 69922830 NA NA NA NA NA NA AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCTTGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGCCGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT AGACCTTCCTCCACACCAGGGATGCTAACTCCACCTTCCACCCCCAGGGAGAGAAAGGCGATGCTGGCAACTCCATTGGAGGAGGCAGAGGGGAACCTGGCCCTCCAGGGCTCCCTGGGCCCCCAGGGCCAAAGGTGAGTGTTCCCTGGAATTGGTGTTGGGGAGGTGCT control 18 57 0 0 0 NA NA NA NA NA 0.703020030225414 0.737542888355444 0.965296672149465 0.838413987309258 -0.703020030225414 -0.737542888355444 NA NA 0.720281459290429 0.901855329729361 -0.720281459290429 NA NA NA TRUE NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933713 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933714_000 ENSE00000933714 000 10 71683495 71683664 + 63 54 53 NA NA NA NA NA ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 NA NA NA NA NA NA CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT natural 524 1043 0.834148237610396 0.85 0.842074118805198 878 1828 0.512824856394845 0.627189705002341 0.570007280698593 0.834148237610396 0.85 0.512824856394845 0.627189705002341 0 0 0 0 0.842074118805198 0.570007280698593 0 0 0 FALSE FALSE NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933714 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933714_001 ENSE00000933714 001 10 71683495 71683664 + 63 54 53 C G 71683508 1353 14 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACACCTGCTTATGAGGG 69923738 69923908 69923751 69923752 69923752 upstr_intron -50 -0.777777777777778 CCCTCATAAGCAGGTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 20 60 0.85 0.85 0.85 NA NA NA NA NA 0.834148237610396 0.85 0.512824856394845 0.627189705002341 0.0158517623896043 -1.11022302462516e-16 NA NA 0.842074118805198 0.570007280698593 0.00792588119480209 NA NA NA FALSE 0.178 2.675 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 21/36 rs544207030 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GCT C,G 8.264e-06 10:69923752 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 intron_variant 0.215008 0.33825 0.51199 0.06567 0.690940792592191 0.548323 0.0039289675922385 FALSE 4.92718e-06 ENSE00000933714_002 ENSE00000933714 002 10 71683495 71683664 + 63 54 53 A G 71683514 1354 20 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCCGGACAGCTGCTTATGAGGG 69923738 69923908 69923757 69923758 69923758 upstr_intron -44 -0.682539682539683 CCCTCATAAGCAGCTGTCCGGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 19 10 0.85 0.85 0.85 91 53 0.802858904155462 0.882814348293727 0.842836626224594 0.834148237610396 0.85 0.512824856394845 0.627189705002341 0.0158517623896043 -1.11022302462516e-16 0.290034047760617 0.255624643291386 0.842074118805198 0.570007280698593 0.00792588119480209 0.272829345526001 0.264903464331199 FALSE FALSE 0 0.139 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 21/36 rs561640431 1 NA CAG A,G 8.265e-06 10:69923758 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 intron_variant -0.087909 0.17692 0.00749 0.06567 0.409487818069379 0.108358 0.0039289675922385 FALSE 9.41442e-06 ENSE00000933714_003 ENSE00000933714 003 10 71683495 71683664 + 63 54 53 C A 71683528 1355 34 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGTCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923771 69923772 69923772 upstr_intron -30 -0.46031746031746 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGACCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 26 60 0.85 0.85 0.85 NA NA NA NA NA 0.834148237610396 0.85 0.512824856394845 0.627189705002341 0.0158517623896043 -1.11022302462516e-16 NA NA 0.842074118805198 0.570007280698593 0.00792588119480209 NA NA NA FALSE 0 -1.663 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 21/36 1 NA GCC C,A 8.264e-06 10:69923772 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 intron_variant 0.277817 0.14439 0.03418 0.06567 0.756620567366158 0.121157 0.0039289675922385 FALSE NA ENSE00000933714_004 ENSE00000933714 004 10 71683495 71683664 + 63 54 53 C T 71683537 1356 43 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTAGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923780 69923781 69923781 upstr_intron -21 -0.317460317460317 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCTAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 38 106 0.835439571411215 0.85 0.842719785705608 NA NA NA NA NA 0.834148237610396 0.85 0.512824856394845 0.627189705002341 0.00129133380081958 -1.11022302462516e-16 NA NA 0.842074118805198 0.570007280698593 0.000645666900409736 NA NA NA FALSE 0 0.355 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 21/36 1 NA CCA C,T 2.48e-05 10:69923781 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 intron_variant 0.438313 0.21529 0.04776 0.06567 0.663118239757545 0.121157 0.0039289675922385 FALSE 3.0129e-05 ENSE00000933714_005 ENSE00000933714 005 10 71683495 71683664 + 63 54 53 A G 71683538 1357 44 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTCGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923781 69923782 69923782 upstr_intron -20 -0.301587301587302 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCGACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 34 21 0.833708497892865 0.85 0.841854248946432 NA NA NA NA NA 0.834148237610396 0.85 0.512824856394845 0.627189705002341 -0.000439739717530863 -1.11022302462516e-16 NA NA 0.842074118805198 0.570007280698593 -0.000219869858765487 NA NA NA FALSE 0 -1.29 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 21/36 1 NA CAA A,G 8.265e-06 10:69923782 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 intron_variant 0.095743 0.16879 0.01622 0.06567 0.688402880897195 0.146275 0.0039289675922385 FALSE 8.56832e-06 ENSE00000933714_008 ENSE00000933714 008 10 71683495 71683664 + 63 54 53 C T 71683572 1360 78 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCAACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923815 69923816 69923816 exon 15 0.277777777777778 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTTGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 51 73 0 0.00893560142171029 0.00446780071085514 187 37 0 0.0178606335787099 0.00893031678935495 0.834148237610396 0.85 0.512824856394845 0.627189705002341 -0.834148237610396 -0.84106439857829 -0.512824856394845 -0.609329071423631 0.842074118805198 0.570007280698593 -0.837606318094343 -0.561076963909238 0.276529354185105 TRUE TRUE 0 -1.502 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 22/37 1 NA TCG C,T 1.654e-05 10:69923816 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 synonymous_variant 2.133079 0.09406 0.00879 0.634777 0.557791013354606 0 0.0039289675922385 FALSE NA ENSE00000933714_009 ENSE00000933714 009 10 71683495 71683664 + 63 54 53 G T 71683573 1361 79 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATAGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923816 69923817 69923817 exon 16 0.296296296296296 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCTATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 48 77 0 0 0 NA NA NA NA NA 0.834148237610396 0.85 0.512824856394845 0.627189705002341 -0.834148237610396 -0.85 NA NA 0.842074118805198 0.570007280698593 -0.842074118805198 NA NA NA TRUE 0 -0.107 NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69923817 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 missense_variant 3.327509 0.17518 0.03796 0.634777 0.977661540748063 0 0.0039289675922385 FALSE 0.000601535 ENSE00000933714_011 ENSE00000933714 011 10 71683495 71683664 + 63 54 53 A G 71683574 1363 80 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCACCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923817 69923818 69923818 exon 17 0.314814814814815 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGGTGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant NA NA NA NA NA 12 54 0 0 0 0.834148237610396 0.85 0.512824856394845 0.627189705002341 NA NA -0.512824856394845 -0.627189705002341 0.842074118805198 0.570007280698593 NA -0.570007280698593 NA TRUE NA 0.007 -0.017 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 22/37 1 tolerated(0.34) benign(0.02) NA GAT A,G 2.481e-05 10:69923818 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 missense_variant 1.279948 0.16585 0.02907 0.634777 0.853955514914704 0 0.0039289675922385 FALSE 1.65603e-05 ENSE00000933714_014 ENSE00000933714 014 10 71683495 71683664 + 63 54 53 C T 71683587 1366 93 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGACCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923830 69923831 69923831 exon -25 0.555555555555556 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGTCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant NA NA NA NA NA 1251 4287 0.018311654293797 0 0.00915582714689851 0.834148237610396 0.85 0.512824856394845 0.627189705002341 NA NA -0.494513202101048 -0.627189705002341 0.842074118805198 0.570007280698593 NA -0.560851453551694 NA TRUE NA 0.002 -1.978 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 22/37 1 NA GCC C,T 8.273e-06 10:69923831 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 synonymous_variant 1.112123 0.14356 0.01373 0.634777 0.497390205646077 0 0.0039289675922385 FALSE NA ENSE00000933714_015 ENSE00000933714 015 10 71683495 71683664 + 63 54 53 C T 71683588 1367 94 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGAGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923831 69923832 69923832 exon -24 0.574074074074074 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCTCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 12 25 0.85 0.85 0.85 413 342 0.686908546288876 0.8 0.743454273144438 0.834148237610396 0.85 0.512824856394845 0.627189705002341 0.0158517623896043 -1.11022302462516e-16 0.174083689894031 0.172810294997659 0.842074118805198 0.570007280698593 0.00792588119480209 0.173446992445845 0.165521111251043 FALSE FALSE 0.076 0.191 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 22/37 rs375695136 1 tolerated(0.17) possibly_damaging(0.888) NA T:0 T:0.0001 CCC C,T 8.272e-06 10:69923832 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 missense_variant 2.832709 0.63782 0.09172 0.634777 0.979566103751531 0 0.0039289675922385 FALSE 4.14484e-06 ENSE00000933714_016 ENSE00000933714 016 10 71683495 71683664 + 63 54 53 G T 71683596 1368 102 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTACCTTGTCTCCTGGCTGACCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923839 69923840 69923840 exon -16 0.722222222222222 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGTCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 62 64 0.85 0.85 0.85 NA NA NA NA NA 0.834148237610396 0.85 0.512824856394845 0.627189705002341 0.0158517623896043 -1.11022302462516e-16 NA NA 0.842074118805198 0.570007280698593 0.00792588119480209 NA NA NA FALSE 0.454 0.838 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 22/37 1 NA GGC G,T 1.655e-05 10:69923840 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 synonymous_variant -0.339471 0.57154 0.11571 0.634777 0.431048184979739 0 0.0039289675922385 FALSE NA ENSE00000933714_020 ENSE00000933714 020 10 71683495 71683664 + 63 54 53 C A 71683621 1372 127 ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGTTCTCTGTACCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCCTGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 69923864 69923865 69923865 downstr_intron 10 1.19230769230769 CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGAACCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT mutant 35 18 0.85 0.85 0.85 NA NA NA NA NA 0.834148237610396 0.85 0.512824856394845 0.627189705002341 0.0158517623896043 -1.11022302462516e-16 NA NA 0.842074118805198 0.570007280698593 0.00792588119480209 NA NA NA FALSE 0 -0.121 NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69923865 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933714 intron_variant 0.585297 0.17779 0.05702 0.06567 0.586351427782169 0.156608 0.0039289675922385 FALSE 4.18904e-06 ENSE00000933714_BRK ENSE00000933714 BRK 10 71683495 71683664 + 63 54 53 A,G; T,T NA NA NA ACCTCCCAAGCTGACCCTCATCTTGCAGCTCTGGGATGTGGGGGTCTCTGTGGCTTGTCTCCTGGCTGCCCTGGGGGGCCAACCTGGCCATCGACACCTGCTTCTCCAAGGGGAAGAGGAGAGAGTTGGGATGAGGGCATGCTGGGCACCTGGACAGCTGCTTATGAGGG 69923738 69923908 NA NA NA NA NA NA CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCTTGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGCCACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT CCCTCATAAGCAGCTGTCCAGGTGCCCAGCATGCCCTCATCCCAACTCTCTCCTCTTCCCCAGGGAGAAGCAGGTGTCGATGGCCAGGTTGGCCCCCCAGGGCAGCCAGGAGACAAGGTACAGAGACCCCCACATCCCAGAGCTGCAAGATGAGGGTCAGCTTGGGAGGT control 26 128 0 0 0 NA NA NA NA NA 0.834148237610396 0.85 0.512824856394845 0.627189705002341 -0.834148237610396 -0.85 NA NA 0.842074118805198 0.570007280698593 -0.842074118805198 NA NA NA TRUE NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933714 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933717_000 ENSE00000933717 000 10 71688634 71688803 + 59 63 48 NA NA NA NA NA GCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA 69928877 69929047 NA NA NA NA NA NA GCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA GCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA natural 22 27 0.999615018679624 0.978444657801644 0.989029838240634 1204 1296 0.855972726048896 0.975336906538233 0.915654816293565 0.999615018679624 0.978444657801644 0.855972726048896 0.975336906538233 0 0 0 0 0.989029838240634 0.915654816293565 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933717 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933717_001 ENSE00000933717 001 10 71688634 71688803 + 59 63 48 C A 71688646 1376 13 GCACAGGCTACCATCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA 69928877 69929047 69928889 69928890 69928890 upstr_intron -47 -0.779661016949153 GCACAGGCTACCATCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA GCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA mutant NA NA NA NA NA 374 115 0.994548432510811 0.999668383815165 0.997108408162988 0.999615018679624 0.978444657801644 0.855972726048896 0.975336906538233 NA NA 0.138575706461915 0.0243314772769312 0.989029838240634 0.915654816293565 NA 0.0814535918694231 NA FALSE NA 0 0.648 NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69928890 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933717 intron_variant 0.145055 0.13402 0.11556 0.088506 0.618057974028839 0.118283 0.0039289675922385 FALSE 0.000896335 ENSE00000933717_021 ENSE00000933717 021 10 71688634 71688803 + 59 63 48 T C 71688763 1396 130 GCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCCTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA 69928877 69929047 69929006 69929007 69929007 downstr_intron 8 1.17021276595745 GCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCCTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA GCACAGGCTACCCTCCTCCATGGGACAGTTCTTCCATGTGTCTTTCCTTTCTCTCCTAGGGGCCTCCTGGTCTTCCTGGGCAAATTGGCCCACCTGGAGCTCCAGGGATTCCAGGCCAGAAGGTAAATCTTATCTTGACAAAGGGGGTGAAGACTTTGCAAGGGCATCGA mutant 18 11 0.916928259886125 1 0.958464129943063 NA NA NA NA NA 0.999615018679624 0.978444657801644 0.855972726048896 0.975336906538233 -0.0826867587934994 0.0215553421983555 NA NA 0.989029838240634 0.915654816293565 -0.0305657082975719 NA NA NA FALSE 0.001 0.676 . splice_region_variant&intron_variant LOW COL13A1 HGNC 2190 ENST00000517713 26/36 1 NA CTT T,C 8.274e-06 10:69929007 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933717 splice_region_variant -0.393045 0.1303 0.07326 0.088506 0.497322707608719 0.173929 0.0039289675922385 FALSE 4.09296e-06 ENSE00000933718_000 ENSE00000933718 000 10 71689731 71689900 + 68 45 57 NA NA NA NA NA AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 NA NA NA NA NA NA AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG natural 1850 1666 0.847370341182945 0.836709303887467 0.842039822535206 4707 2744 0.803759574050504 0.808985203996668 0.806372389023586 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0 0 0 0 0.842039822535206 0.806372389023586 0 0 0 FALSE FALSE NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933718 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933718_001 ENSE00000933718 001 10 71689731 71689900 + 68 45 57 G A 71689752 1402 22 AGCAATGCGTAACTGATGGCTACTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69929995 69929996 69929996 upstr_intron -47 -0.676470588235294 AGCAATGCGTAACTGATGGCTACTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 21 25 0.85 0.85 0.85 NA NA NA NA NA 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705512 0.0132906961125332 NA NA 0.842039822535206 0.806372389023586 0.00796017746479416 NA NA NA FALSE 0 -0.348 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 26/36 rs201423245 1 A:0.0006 A:0.0008 A:0 NA A:0 A:0.002 A:0 A:0.0002 A:0.0014 TGC G,A 0.0007849 10:69929996 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant -0.081189 0.11451 0.00331 0.088506 0.504029519472096 0.0469587 0.0039289675922385 FALSE 0.000755028 ENSE00000933718_002 ENSE00000933718 002 10 71689731 71689900 + 68 45 57 C A 71689753 1403 23 AGCAATGCGTAACTGATGGCTGATATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69929996 69929997 69929997 upstr_intron -46 -0.661764705882353 AGCAATGCGTAACTGATGGCTGATATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 348 330 0.85 0.85 0.85 1544 464 0.78936098251348 0.841762483775488 0.815561733144484 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 -0.0143985915370244 0.0327772797788206 0.842039822535206 0.806372389023586 0.0079601774647941 0.00918934412089811 0.00122916665610401 FALSE FALSE 0 -1.407 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 26/36 1 NA GCT C,A 1.652e-05 10:69929997 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant -0.132275 0.14153 0.0547 0.088506 0.524212906554318 0.0469587 0.0039289675922385 FALSE 1.63213e-05 ENSE00000933718_003 ENSE00000933718 003 10 71689731 71689900 + 68 45 57 T C 71689754 1404 24 AGCAATGCGTAACTGATGGCTGCCATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69929997 69929998 69929998 upstr_intron -45 -0.647058823529412 AGCAATGCGTAACTGATGGCTGCCATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant NA NA NA NA NA 378 1529 0.0015914686689861 0.0532473040406286 0.0274193863548073 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 NA NA -0.802168105381518 -0.755737899956039 0.842039822535206 0.806372389023586 NA -0.778953002668779 NA TRUE NA 0 -0.78 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 26/36 1 NA CTA T,C 2.479e-05 10:69929998 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant -0.283853 0.10035 0.01969 0.088506 0.514544338044995 0.080866 0.0039289675922385 FALSE 1.22292e-05 ENSE00000933718_004 ENSE00000933718 004 10 71689731 71689900 + 68 45 57 C T 71689762 1405 32 AGCAATGCGTAACTGATGGCTGCTATGTTCTTTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930005 69930006 69930006 upstr_intron -37 -0.529411764705882 AGCAATGCGTAACTGATGGCTGCTATGTTCTTTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 72 47 0.85 0.85 0.85 71 193 0.8 0.864653995690831 0.832326997845415 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 -0.00375957405050442 0.0556687916941628 0.842039822535206 0.806372389023586 0.0079601774647941 0.0259546088218292 0.0179944313570351 FALSE FALSE 0 -0.404 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 26/36 1 NA TCT C,T 8.264e-06 10:69930006 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.347718 0.21296 0.05573 0.088506 0.785187223603573 0.0716944 0.0039289675922385 FALSE 4.06914e-06 ENSE00000933718_005 ENSE00000933718 005 10 71689731 71689900 + 68 45 57 C G 71689765 1406 35 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGGCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930008 69930009 69930009 upstr_intron -34 -0.485294117647059 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGGCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 117 143 0.85 0.85 0.85 51 32 1 1 1 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 0.196240425949496 0.191014796003332 0.842039822535206 0.806372389023586 0.0079601774647941 0.193627610976414 0.18566743351162 FALSE FALSE 0 0.064 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 26/36 1 NA GCC C,G 4.959e-05 10:69930009 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.255025 0.20081 0.05588 0.088506 0.708372128938724 0.120462 0.0039289675922385 FALSE 2.44085e-05 ENSE00000933718_006 ENSE00000933718 006 10 71689731 71689900 + 68 45 57 G A 71689771 1407 41 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAAAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930014 69930015 69930015 upstr_intron -28 -0.397058823529412 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAAAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 130 197 0.845772102147235 0.85 0.847886051073617 245 33 0.817613656791803 0.8 0.808806828395902 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 -0.00159823903571044 0.0132906961125332 0.0138540827412985 -0.00898520399666769 0.842039822535206 0.806372389023586 0.00584622853841138 0.00243443937231541 0.00341178916609597 FALSE FALSE 0.003 0.333 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 26/36 rs376054462 1 NA A:0.0005 A:0 AGA G,A 4.133e-05 10:69930015 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.609807 0.20501 0.02216 0.088506 0.796925334745778 0.120462 0.0039289675922385 FALSE 6.50253e-05 ENSE00000933718_008 ENSE00000933718 008 10 71689731 71689900 + 68 45 57 G T 71689783 1409 53 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTATTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930026 69930027 69930027 upstr_intron -16 -0.220588235294118 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTATTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 51 14 0.539458525439148 0.635814616803663 0.587636571121405 231 119 0.999335962078484 0.912512606024375 0.95592428405143 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 -0.307911815743797 -0.200894687083804 0.195576388027979 0.103527402027708 0.842039822535206 0.806372389023586 -0.254403251413801 0.149551895027844 0.403955146441644 FALSE FALSE 0 -0.404 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 26/36 rs368600798 1 NA T:0 T:0.0001 AGT G,T 8.266e-06 10:69930027 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.005437 0.18027 0.04758 0.106106 0.596743719881679 0.097896 0.0039289675922385 FALSE 8.12447e-06 ENSE00000933718_009 ENSE00000933718 009 10 71689731 71689900 + 68 45 57 G A 71689786 1410 56 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTATTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930029 69930030 69930030 upstr_intron -13 -0.176470588235294 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTATTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 36 57 0.85 0.85 0.85 NA NA NA NA NA 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125331 NA NA 0.842039822535206 0.806372389023586 0.00796017746479405 NA NA NA FALSE 0 -0.326 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69930030 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.504263 0.19513 0.05483 0.106106 0.626018474274105 0.160112 0.0039289675922385 FALSE NA ENSE00000933718_010 ENSE00000933718 010 10 71689731 71689900 + 68 45 57 G T 71689786 1411 56 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTTTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930029 69930030 69930030 upstr_intron -13 -0.176470588235294 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTTTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant NA NA NA NA NA 101 341 0.996951479570444 0.974097175483475 0.985524327526959 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 NA NA 0.193191905519939 0.165111971486807 0.842039822535206 0.806372389023586 NA 0.179151938503373 NA FALSE NA 0 -0.326 NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933718 intron_variant 0.244722 0.20457 0.06181 0.106106 0.636539525655947 0.160112 0.0039289675922385 FALSE NA ENSE00000933718_011 ENSE00000933718 011 10 71689731 71689900 + 68 45 57 C T 71689790 1412 60 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCTGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930033 69930034 69930034 upstr_intron -9 -0.117647058823529 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCTGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant NA NA NA NA NA 181 822 0.952587188034956 0.952884087701754 0.952735637868355 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 NA NA 0.148827613984451 0.143898883705086 0.842039822535206 0.806372389023586 NA 0.146363248844769 NA FALSE NA 0.099 0.192 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 26/36 rs373727309 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 T:0 T:0.0001 CCG C,T 4.134e-05 10:69930034 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.165474 0.13459 0.00343 0.106106 0.736719762173601 0.171357 0.0039289675922385 FALSE 3.65619e-05 ENSE00000933718_012 ENSE00000933718 012 10 71689731 71689900 + 68 45 57 T C 71689806 1413 76 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGACTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930049 69930050 69930050 exon 8 0.177777777777778 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGACTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 15 20 0.85 0.85 0.85 NA NA NA NA NA 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 NA NA 0.842039822535206 0.806372389023586 0.0079601774647941 NA NA NA FALSE 1 3.736 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 27/37 rs546546241 1 tolerated(0.14) probably_damaging(0.996) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATT T,C 4.134e-05 10:69930050 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 missense_variant 4.353061 0.94836 0.90815 0.732398 0.995599500797672 0 0.0039289675922385 FALSE 2.84303e-05 ENSE00000933718_013 ENSE00000933718 013 10 71689731 71689900 + 68 45 57 A G 71689828 1414 98 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGGCACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930071 69930072 69930072 exon -16 0.666666666666667 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGGCACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 410 175 0 0 0 788 700 0.0145023194566785 0 0.00725115972833924 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 -0.847370341182945 -0.836709303887467 -0.789257254593826 -0.808985203996668 0.842039822535206 0.806372389023586 -0.842039822535206 -0.799121229295247 0.0429185932399591 TRUE TRUE 0.982 0.485 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 27/37 1 NA GAC A,G 8.271e-06 10:69930072 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 synonymous_variant 0.998328 0.87938 0.63902 0.732398 0.779497547825032 0 0.0039289675922385 FALSE 1.21849e-05 ENSE00000933718_014 ENSE00000933718 014 10 71689731 71689900 + 68 45 57 C T 71689831 1415 101 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACATGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930074 69930075 69930075 exon -13 0.733333333333333 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACATGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 166 701 0 0.0332257539668986 0.0166128769834493 1546 196 0.00888792959744621 0.0109289475072289 0.00990843855233754 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 -0.847370341182945 -0.803483549920568 -0.794871644453058 -0.798056256489439 0.842039822535206 0.806372389023586 -0.825426945551757 -0.796463950471249 0.028962995080508 TRUE TRUE 0.026 -1.204 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 27/37 COSM919965&COSM919964 1 NA ACG C,T 3.308e-05 10:69930075 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 synonymous_variant 1.796878 0.86017 0.07498 0.732398 0.592363979575091 0 0.0039289675922385 FALSE 1.21853e-05 ENSE00000933718_015 ENSE00000933718 015 10 71689731 71689900 + 68 45 57 G A 71689832 1416 102 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACAATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930075 69930076 69930076 exon -12 0.755555555555556 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACAATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant NA NA NA NA NA 135 539 0.00448289585783017 0.159952515210754 0.0822177055342922 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 NA NA -0.799276678192674 -0.649032688785914 0.842039822535206 0.806372389023586 NA -0.724154683489294 NA TRUE NA 1 4.27 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 27/37 1 deleterious(0) possibly_damaging(0.862) NA CGA G,A 0.0001406 10:69930076 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 missense_variant 3.64414 0.93076 0.80426 0.732398 0.997215399145426 0 0.0039289675922385 FALSE 8.12361e-05 ENSE00000933718_016 ENSE00000933718 016 10 71689731 71689900 + 68 45 57 T C 71689834 1417 104 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGACGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930077 69930078 69930078 exon -10 0.8 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGACGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 42 37 0.922090381241667 0.917771250481801 0.919930815861734 39 89 0.849952493312444 1 0.924976246656222 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.0747200400587217 0.081061946594334 0.0461929192619397 0.191014796003332 0.842039822535206 0.806372389023586 0.0778909933265278 0.118603857632636 0.0407128643061082 FALSE FALSE 1 0.833 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 27/37 1 NA ATG T,C 7.444e-05 10:69930078 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 synonymous_variant -0.146103 0.87793 0.62878 0.732398 0.490697490829731 0 0.0039289675922385 FALSE 0.00012591 ENSE00000933718_017 ENSE00000933718 017 10 71689731 71689900 + 68 45 57 G C 71689836 1418 106 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGCGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930079 69930080 69930080 exon -8 0.844444444444444 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGCGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant NA NA NA NA NA 874 183 0.992797141800448 0.99259870222928 0.992697922014864 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 NA NA 0.189037567749944 0.183613498232613 0.842039822535206 0.806372389023586 NA 0.186325532991278 NA FALSE NA 1 7.028 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 27/37 1 deleterious(0) probably_damaging(0.999) NA GGG G,C 1.654e-05 10:69930080 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 missense_variant 3.428415 0.98951 0.99224 0.732398 0.995329953858914 0 0.0039289675922385 FALSE 1.21862e-05 ENSE00000933718_018 ENSE00000933718 018 10 71689731 71689900 + 68 45 57 A C 71689839 1419 109 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGCAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930082 69930083 69930083 exon -5 0.911111111111111 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGCAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant NA NA NA NA NA 354 381 0.0364500853584114 0.0244469124414487 0.0304484988999301 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 NA NA -0.767309488692093 -0.784538291555219 0.842039822535206 0.806372389023586 NA -0.775923890123656 NA TRUE NA 1 6.668 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 27/37 1 deleterious(0.05) possibly_damaging(0.889) NA GAA A,C 8.271e-06 10:69930083 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 missense_variant 3.558151 0.98763 0.99179 0.732398 0.978805713122949 0 0.0039289675922385 FALSE 8.12592e-06 ENSE00000933718_019 ENSE00000933718 019 10 71689731 71689900 + 68 45 57 G A 71689853 1420 123 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAAACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930096 69930097 69930097 downstr_intron 10 1.17857142857143 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAAACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 55 74 0.85 0.85 0.85 15 13 0.940647960543647 0.8 0.870323980271824 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 0.136888386493143 -0.00898520399666769 0.842039822535206 0.806372389023586 0.0079601774647941 0.0639515912482375 0.0559914137834434 FALSE FALSE 0 0.978 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 27/36 rs564740434 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 AGA G,A 8.272e-06 10:69930097 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.312386 0.17846 0.0428 0.088506 0.544137011063979 0.0905124 0.0039289675922385 FALSE NA ENSE00000933718_020 ENSE00000933718 020 10 71689731 71689900 + 68 45 57 C T 71689855 1421 125 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGATGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930098 69930099 69930099 downstr_intron 12 1.21428571428571 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGATGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 41 14 0.85 0.85 0.85 359 105 0.8 0.802402725052545 0.801201362526272 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 -0.00375957405050442 -0.00658247894412278 0.842039822535206 0.806372389023586 0.0079601774647941 -0.0051710264973136 0.0131312039621077 FALSE FALSE 0 -0.6 rs80201995 intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 27/36 rs80201995 1 T:0.0329 T:0.0023 T:0.0115 NA T:0.0456 T:0.0209 T:0.089 T:0.0061 T:0.0191 ACG C,T 0.027 10:69930099 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.262997 0.17963 0.00682 0.088506 0.483193689285814 0.0443366 0.0039289675922385 FALSE 0.0266569 ENSE00000933718_021 ENSE00000933718 021 10 71689731 71689900 + 68 45 57 C A 71689858 1422 128 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTACTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930101 69930102 69930102 downstr_intron 15 1.26785714285714 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTACTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 28 22 0.85 0.85 0.85 NA NA NA NA NA 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 NA NA 0.842039822535206 0.806372389023586 0.0079601774647941 NA NA NA FALSE 0.001 -0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69930102 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.281741 0.16714 0.08255 0.088506 0.400519210996333 0.0443366 0.0039289675922385 FALSE 4.06564e-06 ENSE00000933718_022 ENSE00000933718 022 10 71689731 71689900 + 68 45 57 C T 71689858 1423 128 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTTCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930101 69930102 69930102 downstr_intron 15 1.26785714285714 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTTCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 193 271 0.844298964757196 0.85 0.847149482378598 533 124 0.865151452526686 0.8 0.832575726263343 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 -0.00307137642574862 0.0132906961125332 0.0613918784761819 -0.00898520399666769 0.842039822535206 0.806372389023586 0.00510965984339229 0.0262033372397571 0.0210936773963648 FALSE FALSE 0.001 -0.507 NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933718 intron_variant 0.238849 0.11395 0.02245 0.088506 0.423754958199738 0.0443366 0.0039289675922385 FALSE 4.06564e-06 ENSE00000933718_023 ENSE00000933718 023 10 71689731 71689900 + 68 45 57 T C 71689860 1424 130 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCCCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930103 69930104 69930104 downstr_intron 17 1.30357142857143 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCCCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 174 246 0.85 0.85 0.85 138 1219 0.917005569760563 0.8004147861496 0.858710177955081 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125333 0.113245995710058 -0.00857041784706769 0.842039822535206 0.806372389023586 0.00796017746479416 0.0523377889314953 0.0443776114667012 FALSE FALSE 0 -0.721 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 27/36 1 NA CTC T,C 1.655e-05 10:69930104 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant -0.039683 0.15726 0.00163 0.088506 0.299389231060605 0.0443366 0.0039289675922385 FALSE 8.13246e-06 ENSE00000933718_024 ENSE00000933718 024 10 71689731 71689900 + 68 45 57 G A 71689863 1425 133 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTAGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930106 69930107 69930107 downstr_intron 20 1.35714285714286 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTAGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 107 173 0.85 0.85 0.85 NA NA NA NA NA 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 NA NA 0.842039822535206 0.806372389023586 0.0079601774647941 NA NA NA FALSE 0 -0.304 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 27/36 1 NA TGG G,A 2.482e-05 10:69930107 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant -0.101316 0.09502 0.00052 0.088506 0.334519119374706 0.0443366 0.0039289675922385 FALSE 1.62735e-05 ENSE00000933718_025 ENSE00000933718 025 10 71689731 71689900 + 68 45 57 C A 71689871 1426 141 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACATCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 69930114 69930115 69930115 downstr_intron 28 1.5 AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACATCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG mutant 44 21 0.85 0.85 0.85 164 117 0.817542635222161 0.8 0.80877131761108 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 0.00262965881705501 0.0132906961125332 0.0137830611716563 -0.00898520399666769 0.842039822535206 0.806372389023586 0.0079601774647941 0.0023989285874943 0.00556124887729981 FALSE FALSE 0 -0.977 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 27/36 1 NA CCT C,A 8.273e-06 10:69930115 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00000933718 intron_variant 0.194626 0.20547 0.11415 0.088506 0.514972625571269 0.0443366 0.0039289675922385 FALSE 4.07465e-06 ENSE00000933718_BRK ENSE00000933718 BRK 10 71689731 71689900 + 68 45 57 A,G; T,T NA NA NA AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACTTGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGCCATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG 69929974 69930144 NA NA NA NA NA NA AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACTTGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGCCATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG AGCAATGCGTAACTGATGGCTGCTATGTTCTCTGCCCTGAGAGTCACCTTTAGTTGTTCCGGTTACAGGGGGAGATTGGACTGCCAGGCCCTCCAGGACACGATGGGGAAAAGGTATGAACAGACGTCCTCTGGTCAAACCTCTGAAGACAGTCTTGGCCCTGGGGGCAG control 136 142 0 0.0184375333390207 0.00921876666951036 NA NA NA NA NA 0.847370341182945 0.836709303887467 0.803759574050504 0.808985203996668 -0.847370341182945 -0.818271770548446 NA NA 0.842039822535206 0.806372389023586 -0.832821055865695 NA NA NA TRUE NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00000933718 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933724_000 ENSE00000933724 000 10 71705364 71705533 + 63 54 53 NA NA NA NA NA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 NA NA NA NA NA NA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA natural 22 38 0.995931960600567 0.993368449551956 0.994650205076261 2673 982 0.823853919463366 0.981437367740072 0.902645643601719 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 0 0 0 0 0.994650205076261 0.902645643601719 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00003495675 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933724_002 ENSE00000933724 002 10 71705364 71705533 + 63 54 53 G A 71705381 1450 18 AAATGGCAAGGAAGATTATTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945624 69945625 69945625 upstr_intron -46 -0.714285714285714 AAATGGCAAGGAAGATTATTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 48 101 1 0.996140742736431 0.998070371368215 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.176146080536634 0.0147033749963591 0.994650205076261 0.902645643601719 NA 0.0954247277664965 NA FALSE NA 0 0.516 NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69945625 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant 0.125212 0.18109 0.04685 0.074636 0.597617173535832 0.0616821 0.0039289675922385 FALSE NA ENSE00000933724_003 ENSE00000933724 003 10 71705364 71705533 + 63 54 53 G A 71705387 1451 24 AAATGGCAAGGAAGATTGTTACCATGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945630 69945631 69945631 upstr_intron -40 -0.619047619047619 AAATGGCAAGGAAGATTGTTACCATGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 283 45 0.974073183284674 0.951449701818524 0.962761442551599 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.150219263821308 -0.0299876659215478 0.994650205076261 0.902645643601719 NA 0.0601157989498802 NA FALSE NA 0 -1.238 rs113973949 intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 32/36 rs113973949 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 CGT G,A 8.269e-05 10:69945631 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant -0.047902 0.1779 0.00436 0.074636 0.47188799366206 0.0616821 0.0039289675922385 FALSE 8.76194e-05 ENSE00000933724_004 ENSE00000933724 004 10 71705364 71705533 + 63 54 53 G T 71705389 1452 26 AAATGGCAAGGAAGATTGTTACCGTTTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945632 69945633 69945633 upstr_intron -38 -0.587301587301587 AAATGGCAAGGAAGATTGTTACCGTTTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 90 171 1 1 1 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.176146080536634 0.0185626322599284 0.994650205076261 0.902645643601719 NA 0.0973543563982812 NA FALSE NA 0 -1.065 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 32/36 1 NA TGT G,T 8.269e-06 10:69945633 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant -0.209207 0.23403 0.0283 0.074636 0.614956835984004 0.0616821 0.0039289675922385 FALSE NA ENSE00000933724_005 ENSE00000933724 005 10 71705364 71705533 + 63 54 53 A T 71705403 1453 40 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCTTGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945646 69945647 69945647 upstr_intron -24 -0.365079365079365 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCTTGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 2236 87 0.954989560610166 0.938295237364222 0.946642398987194 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.1311356411468 -0.0431421303758492 0.994650205076261 0.902645643601719 NA 0.0439967553854754 NA FALSE NA 0.003 1.642 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 32/36 rs550469062 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CAT A,T 8.269e-06 10:69945647 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant 0.525271 0.44078 0.04835 0.074636 0.783902775914352 0.930312 0.0039289675922385 FALSE 1.24882e-05 ENSE00000933724_006 ENSE00000933724 006 10 71705364 71705533 + 63 54 53 C A 71705411 1454 48 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTATTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945654 69945655 69945655 upstr_intron -16 -0.238095238095238 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTATTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 786 83 0.927183947995974 0.966075029613631 0.946629488804803 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.103330028532608 -0.0153623381264404 0.994650205076261 0.902645643601719 NA 0.0439838452030838 NA FALSE NA 0.057 1.148 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 32/36 1 NA TCT C,A 1.654e-05 10:69945655 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant 0.79799 0.38927 0.26217 0.074636 0.623502206091015 0.755433 0.0039289675922385 FALSE NA ENSE00000933724_007 ENSE00000933724 007 10 71705364 71705533 + 63 54 53 C T 71705418 1455 55 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCTCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945661 69945662 69945662 upstr_intron -9 -0.126984126984127 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCTCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 67 225 1 1 1 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.176146080536634 0.0185626322599284 0.994650205076261 0.902645643601719 NA 0.0973543563982812 NA FALSE NA 0.001 0.104 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 32/36 1 NA CCC C,T 8.27e-06 10:69945662 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant 0.264801 0.24691 0.02847 0.074636 0.522093148132521 0.267901 0.0039289675922385 FALSE 2.46922e-05 ENSE00000933724_009 ENSE00000933724 009 10 71705364 71705533 + 63 54 53 G C 71705446 1457 83 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGCGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945689 69945690 69945690 exon 20 0.37037037037037 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGCGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 78 78 1 1 1 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.176146080536634 0.0185626322599284 0.994650205076261 0.902645643601719 NA 0.0973543563982812 NA FALSE NA 1 8.767 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 33/37 rs372393034 1 deleterious(0) unknown(0) NA C:0 C:0.0001 GGG G,C 8.27e-06 10:69945690 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 missense_variant 4.579315 0.99396 0.99523 0.634777 0.985941975373996 0 0.0039289675922385 FALSE 4.08881e-06 ENSE00000933724_011 ENSE00000933724 011 10 71705364 71705533 + 63 54 53 A T 71705456 1459 93 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGTCCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945699 69945700 69945700 exon -25 0.555555555555556 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGTCCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 268 29 0.952553279273523 0.859333097649641 0.905943188461582 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.128699359810157 -0.12210427009043 0.994650205076261 0.902645643601719 NA 0.00329754485986311 NA FALSE NA 1 8.296 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 33/37 1 NA GAC A,T 8.271e-06 10:69945700 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 synonymous_variant 0.387158 0.99181 0.99464 0.634777 0.792011190770816 0 0.0039289675922385 FALSE 4.09182e-06 ENSE00000933724_012 ENSE00000933724 012 10 71705364 71705533 + 63 54 53 C T 71705458 1460 95 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACTAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945701 69945702 69945702 exon -23 0.592592592592593 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACTAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant 44 50 0.837441240913644 0.85 0.843720620456822 NA NA NA NA NA 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 -0.158490719686923 -0.143368449551956 NA NA 0.994650205076261 0.902645643601719 -0.15092958461944 NA NA NA FALSE 1 6.943 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 33/37 1 deleterious(0) unknown(0) NA CCA C,T 8.271e-06 10:69945702 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 missense_variant 5.627405 0.99348 0.9914 0.634777 0.971632859370582 0 0.0039289675922385 FALSE NA ENSE00000933724_013 ENSE00000933724 013 10 71705364 71705533 + 63 54 53 C T 71705461 1461 98 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAATGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945704 69945705 69945705 exon -20 0.648148148148148 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAATGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 720 38 0.944096914725981 0.933662900670016 0.938879907697999 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.120242995262615 -0.0477744670700552 0.994650205076261 0.902645643601719 NA 0.03623426409628 NA FALSE NA 0.036 0.18 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 33/37 1 tolerated(0.38) unknown(0) NA ACG C,T 8.271e-06 10:69945705 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 missense_variant 4.506963 0.22356 0.02336 0.634777 0.904773363452446 0 0.0039289675922385 FALSE 8.19659e-06 ENSE00000933724_014 ENSE00000933724 014 10 71705364 71705533 + 63 54 53 G A 71705462 1462 99 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACAGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945705 69945706 69945706 exon -19 0.666666666666667 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACAGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 465 312 0.970703126112645 0.986360891077607 0.978532008595126 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.146849206649279 0.00492352333753543 0.994650205076261 0.902645643601719 NA 0.0758863649934071 NA FALSE NA 0.002 -0.702 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 33/37 rs529997084 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGG G,A 4.136e-05 10:69945706 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 synonymous_variant 1.944008 0.18627 0.05077 0.634777 0.656367741428151 0 0.0039289675922385 FALSE 3.69747e-05 ENSE00000933724_017 ENSE00000933724 017 10 71705364 71705533 + 63 54 53 C G 71705487 1465 124 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTGTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945730 69945731 69945731 downstr_intron 7 1.13461538461538 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTGTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 31 461 1 0.996541887633092 0.998270943816546 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.176146080536634 0.0151045198930209 0.994650205076261 0.902645643601719 NA 0.0956253002148274 NA FALSE NA 0.975 0.557 . splice_region_variant&intron_variant LOW COL13A1 HGNC 2190 ENST00000517713 33/36 1 NA TCT C,G 8.274e-06 10:69945731 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 splice_region_variant 1.347218 0.28302 0.14813 0.074636 0.785188223853827 0.329354 0.0039289675922385 FALSE 1.25066e-05 ENSE00000933724_019 ENSE00000933724 019 10 71705364 71705533 + 63 54 53 G A 71705494 1467 131 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGAATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945737 69945738 69945738 downstr_intron 14 1.26923076923077 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGAATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 40 92 0.9678794028756 1 0.9839397014378 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.144025483412234 0.0185626322599284 0.994650205076261 0.902645643601719 NA 0.0812940578360814 NA FALSE NA 0.002 0.099 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 33/36 1 NA GGA G,A 8.275e-06 10:69945738 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant 0.41887 0.1511 0.02789 0.074636 0.59031036613422 0.0448725 0.0039289675922385 FALSE 0 ENSE00000933724_020 ENSE00000933724 020 10 71705364 71705533 + 63 54 53 G A 71705501 1468 138 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAAGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 69945744 69945745 69945745 downstr_intron 21 1.40384615384615 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAAGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 50 144 0.990674930966276 1 0.995337465483138 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.16682101150291 0.0185626322599284 0.994650205076261 0.902645643601719 NA 0.0926918218814193 NA FALSE NA 0.001 0.608 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 33/36 1 NA AGG G,A 1.656e-05 10:69945745 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant 0.346874 0.15725 0.01927 0.074636 0.766964886292053 0.0448725 0.0039289675922385 FALSE 8.70883e-06 ENSE00000933724_024 ENSE00000933724 024 10 71705364 71705533 + 63 54 53 C T 71705514 1472 151 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCTCACCCCTGCCCCCATTAGA 69945607 69945777 69945757 69945758 69945758 downstr_intron 34 1.65384615384615 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCTCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 75 112 0.973113391891509 1 0.986556695945754 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.149259472428143 0.0185626322599284 0.994650205076261 0.902645643601719 NA 0.0839110523440355 NA FALSE NA 0 -0.022 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 33/36 1 NA CCC C,T 8.287e-06 10:69945758 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant 0.159631 0.16781 0.02383 0.074636 0.704244514061779 0.0443366 0.0039289675922385 FALSE 1.9121e-05 ENSE00000933724_026 ENSE00000933724 026 10 71705364 71705533 + 63 54 53 T G 71705521 1474 158 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCGGCCCCCATTAGA 69945607 69945777 69945764 69945765 69945765 downstr_intron 41 1.78846153846154 AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCGGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA mutant NA NA NA NA NA 2177 113 0.971887592968905 0.998597832115389 0.985242712542147 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 NA NA 0.148033673505539 0.0171604643753169 0.994650205076261 0.902645643601719 NA 0.0825970689404278 NA FALSE NA 0.001 -0.02 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 33/36 1 NA CTG T,G 2.486e-05 10:69945765 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003495675 intron_variant 0.20915 0.12768 0.02424 0.074636 0.507428944399732 0.0443366 0.0039289675922385 FALSE 1.95764e-05 ENSE00000933724_BRK ENSE00000933724 BRK 10 71705364 71705533 + 63 54 53 A,G; T,T NA NA NA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCTTGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTCCGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA 69945607 69945777 NA NA NA NA NA NA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCTTGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTCCGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA AAATGGCAAGGAAGATTGTTACCGTGTCTGGCAGGATTCATGCATTTCTTTCTCCCATTTCAGGGCAGCAAAGGAGACCCTGGGATGACAGGACCAACGGGAGCAGCTGGGCTTCCTGTGAGTCTCTTGGGATCAGAGGTTCCTCTCCTCCCACCCCTGCCCCCATTAGA control 201 26 0 0 0 NA NA NA NA NA 0.995931960600567 0.993368449551956 0.823853919463366 0.981437367740072 -0.995931960600567 -0.993368449551956 NA NA 0.994650205076261 0.902645643601719 -0.994650205076261 NA NA NA TRUE NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00003495675 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00000933729_000 ENSE00000933729 000 10 71880230 71880399 - 33 93 44 NA NA NA NA NA AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 NA NA NA NA NA NA AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG natural 10 12 0.998000656515046 1 0.999000328257523 2893 312 0.901275054814967 0.978480209091532 0.93987763195325 0.998000656515046 1 0.901275054814967 0.978480209091532 0 0 0 0 0.999000328257523 0.93987763195325 0 0 0 FALSE FALSE NA NA NA NA NA AIFM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AIFM2 NA NA NA ENSG00000042286 ENSE00000933729 NA NA NA NA NA NA NA 1.41216409648831e-07 FALSE NA ENSE00000933729_002 ENSE00000933729 002 10 71880230 71880399 - 33 93 44 G T 71880252 1533 148 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGATGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120495 70120496 70120496 downstr_intron 11 1.34375 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGATGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 24 165 0.987343834131258 1 0.993671917065629 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0860687793162903 0.021519790908468 0.999000328257523 0.93987763195325 NA 0.0537942851123792 NA FALSE NA 0 -0.836 . intron_variant MODIFIER AIFM2 HGNC 21411 ENST00000307864 5/8 1 NA AGC G,T 8.236e-06 10:70120496 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 intron_variant 0.335759 0.21518 0.08806 0.295142 0.694752256388807 0.124839 1.41216409648831e-07 FALSE 4.06108e-06 ENSE00000933729_003 ENSE00000933729 003 10 71880230 71880399 - 33 93 44 C G 71880253 1534 147 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGCCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120496 70120497 70120497 downstr_intron 10 1.3125 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGCCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant 27 45 0.741349623538711 0.85 0.795674811769356 NA NA NA NA NA 0.998000656515046 1 0.901275054814967 0.978480209091532 -0.256651032976335 -0.15 NA NA 0.999000328257523 0.93987763195325 -0.203325516488168 NA NA NA FALSE 0.001 -0.648 . intron_variant MODIFIER AIFM2 HGNC 21411 ENST00000307864 5/8 1 NA GCC C,G 1.647e-05 10:70120497 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 intron_variant 0.433631 0.2615 0.05687 0.295142 0.710087283959198 0.124839 1.41216409648831e-07 FALSE 8.12222e-06 ENSE00000933729_005 ENSE00000933729 005 10 71880230 71880399 - 33 93 44 G A 71880274 1536 126 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATTCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120517 70120518 70120518 exon -12 0.881720430107527 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATTCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 78 1187 0.97091441123972 0.993039941955382 0.981977176597551 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0696393564247528 0.0145597328638505 0.999000328257523 0.93987763195325 NA 0.0420995446443017 NA FALSE NA 1 8.898 NA NA NA AIFM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:70120518 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 missense_variant 6.235138 0.97786 0.97693 0.706298 0.999050830007574 0 1.41216409648831e-07 FALSE 8.12216e-06 ENSE00000933729_007 ENSE00000933729 007 10 71880230 71880399 - 33 93 44 G C 71880282 1538 118 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAAGAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120525 70120526 70120526 exon -20 0.795698924731183 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAAGAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 81 23 1 1 1 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0987249451850326 0.021519790908468 0.999000328257523 0.93987763195325 NA 0.0601223680467503 NA FALSE NA 1 6.978 . missense_variant MODERATE AIFM2 HGNC 21411 ENST00000307864 5/9 1 deleterious(0) probably_damaging(0.98) NA TGT G,C 9.884e-05 10:70120526 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 missense_variant 6.693782 0.97863 0.96789 0.706298 0.995553125353718 0 1.41216409648831e-07 FALSE 5.2803e-05 ENSE00000933729_010 ENSE00000933729 010 10 71880230 71880399 - 33 93 44 A G 71880300 1541 100 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGACGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120543 70120544 70120544 exon -38 0.602150537634409 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGACGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 34 14 1 1 1 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0987249451850326 0.021519790908468 0.999000328257523 0.93987763195325 NA 0.0601223680467503 NA FALSE NA 1 8.417 . missense_variant MODERATE AIFM2 HGNC 21411 ENST00000307864 5/9 1 deleterious(0.02) possibly_damaging(0.735) NA CAT A,G 8.236e-06 10:70120544 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 missense_variant 5.7623 0.9735 0.97783 0.706298 0.989263947578578 0 1.41216409648831e-07 FALSE 4.06141e-06 ENSE00000933729_014 ENSE00000933729 014 10 71880230 71880399 - 33 93 44 C T 71880324 1545 76 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGAAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120567 70120568 70120568 exon 32 0.344086021505376 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGAAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 445 34 0.995416196201607 1 0.997708098100803 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0941411413866394 0.021519790908468 0.999000328257523 0.93987763195325 NA 0.0578304661475537 NA FALSE NA 1 6.985 . missense_variant MODERATE AIFM2 HGNC 21411 ENST00000307864 5/9 1 deleterious(0) probably_damaging(0.994) NA TCC C,T 8.236e-06 10:70120568 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 missense_variant 7.133187 0.9774 0.98056 0.706298 0.998197618921788 0 1.41216409648831e-07 FALSE 4.06177e-06 ENSE00000933729_016 ENSE00000933729 016 10 71880230 71880399 - 33 93 44 C T 71880334 1547 66 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCATGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120577 70120578 70120578 exon 22 0.236559139784946 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCATGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 83 52 1 1 1 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0987249451850326 0.021519790908468 0.999000328257523 0.93987763195325 NA 0.0601223680467503 NA FALSE NA 0.887 0.956 . missense_variant MODERATE AIFM2 HGNC 21411 ENST00000307864 5/9 rs376397847&COSM919979 1 deleterious(0) benign(0.384) NA T:0 T:0.0001 ACG C,T 1.647e-05 10:70120578 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 missense_variant 5.03503 0.92118 0.81666 0.706298 0.998684589801283 0 1.41216409648831e-07 FALSE 3.2495e-05 ENSE00000933729_017 ENSE00000933729 017 10 71880230 71880399 - 33 93 44 G A 71880335 1548 65 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATTGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120578 70120579 70120579 exon 21 0.225806451612903 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATTGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 82 56 0.950738898803217 0.985949186126466 0.968344042464841 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0494638439882498 0.00746897703493354 0.999000328257523 0.93987763195325 NA 0.0284664105115917 NA FALSE NA 0.749 -0.08 . synonymous_variant LOW AIFM2 HGNC 21411 ENST00000307864 5/9 1 NA CGA G,A 3.295e-05 10:70120579 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 synonymous_variant 2.402767 0.7159 0.39043 0.706298 0.723952437094185 0 1.41216409648831e-07 FALSE 1.21875e-05 ENSE00000933729_021 ENSE00000933729 021 10 71880230 71880399 - 33 93 44 G A 71880349 1552 51 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGTGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120592 70120593 70120593 exon 7 0.0752688172043011 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGTGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 163 22 0.999058542183373 1 0.999529271091687 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0977834873684058 0.021519790908468 0.999000328257523 0.93987763195325 NA 0.0596516391384369 NA FALSE NA 1 1.844 . missense_variant MODERATE AIFM2 HGNC 21411 ENST00000307864 5/9 1 tolerated(0.11) benign(0.009) NA CGC G,A 2.471e-05 10:70120593 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 missense_variant 3.708454 0.93727 0.8232 0.706298 0.991173129998196 0 1.41216409648831e-07 FALSE 2.03181e-05 ENSE00000933729_024 ENSE00000933729 024 10 71880230 71880399 - 33 93 44 G A 71880366 1555 34 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCTTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120609 70120610 70120610 upstr_intron -11 -0.227272727272727 AGGTGTGTTTCATATGTCCCTGTTTCACATGTCTTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 15 68 1 1 1 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0987249451850326 0.021519790908468 0.999000328257523 0.93987763195325 NA 0.0601223680467503 NA FALSE NA 0.002 0.364 . intron_variant MODIFIER AIFM2 HGNC 21411 ENST00000307864 4/8 1 NA AGG G,A 8.236e-06 10:70120610 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 intron_variant 0.102726 0.28922 0.25278 0.099367 0.653646247150832 0.242185 1.41216409648831e-07 FALSE 4.0655e-06 ENSE00000933729_027 ENSE00000933729 027 10 71880230 71880399 - 33 93 44 G A 71880380 1558 20 AGGTGTGTTTCATATGTCCTTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120623 70120624 70120624 upstr_intron -25 -0.545454545454545 AGGTGTGTTTCATATGTCCTTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 94 244 0.969281292413511 1 0.984640646206756 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0680062375985436 0.021519790908468 0.999000328257523 0.93987763195325 NA 0.0447630142535058 NA FALSE NA 0 -0.015 . intron_variant MODIFIER AIFM2 HGNC 21411 ENST00000307864 4/8 1 NA AGG G,A 1.647e-05 10:70120624 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 intron_variant 0.32566 0.16354 0.01018 0.062308 0.697165205085218 0.145276 1.41216409648831e-07 FALSE 8.14292e-06 ENSE00000933729_028 ENSE00000933729 028 10 71880230 71880399 - 33 93 44 T C 71880386 1559 14 AGGTGTGTTTCATGTGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 70120629 70120630 70120630 upstr_intron -31 -0.681818181818182 AGGTGTGTTTCATGTGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG mutant NA NA NA NA NA 59 264 1 0.994327101270193 0.997163550635096 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA 0.0987249451850326 0.015846892178661 0.999000328257523 0.93987763195325 NA 0.0572859186818468 NA FALSE NA 0 -0.13 . intron_variant MODIFIER AIFM2 HGNC 21411 ENST00000307864 4/8 1 NA ATA T,C 5.765e-05 10:70120630 AIFM2 HGNC Symbol protein_coding 34711 ENSG00000042286 ENSE00000933729 intron_variant -0.25856 0.16175 0.01775 0.062308 0.358204452549542 0.145209 1.41216409648831e-07 FALSE 6.11367e-05 ENSE00000933729_BRK ENSE00000933729 BRK 10 71880230 71880399 - 33 93 44 A,G; T,T NA NA NA AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCTTGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGCCGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG 70120473 70120643 NA NA NA NA NA NA AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCTTGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGCCGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG AGGTGTGTTTCATATGTCCCTGTTTCACATGTCCTCTTCTCCAGGTCCAGCGCTCACGGTTCATCGTGGTGGTGGGAGGAGGCTCGGCTGGAGTGGAGATGGCAGCAGAGATTAAAACAGAATATCCTGAGAAAGAGGTGAGCCAGGCTGCCTTGCCTTGGAGCTCTAAG control NA NA NA NA NA 72 952 0 0.0120189150481791 0.00600945752408956 0.998000656515046 1 0.901275054814967 0.978480209091532 NA NA -0.901275054814967 -0.966461294043353 0.999000328257523 0.93987763195325 NA -0.93386817442916 NA TRUE NA NA NA NA NA NA AIFM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AIFM2 NA NA NA ENSG00000042286 ENSE00000933729 NA NA NA NA NA NA NA 1.41216409648831e-07 FALSE NA ENSE00000933900_000 ENSE00000933900 000 3 132218525 132218694 + 53 75 42 NA NA NA NA NA TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 NA NA NA NA NA NA TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC natural 41 70 0.85 0.919900063371536 0.884950031685768 1259 2670 0.961638954500906 0.877575059734277 0.919607007117591 0.85 0.919900063371536 0.961638954500906 0.877575059734277 0 0 0 0 0.884950031685768 0.919607007117591 0 0 0 FALSE FALSE NA NA NA NA NA DNAJC13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAJC13 NA NA NA ENSG00000138246 ENSE00000933900 NA NA NA NA NA NA NA 0.999999999681765 TRUE NA ENSE00000933900_001 ENSE00000933900 001 3 132218525 132218694 + 53 75 42 A G 132218542 3073 18 TTTCAGACTTGAAGTCAGAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499697 132499698 132499698 upstr_intron -36 -0.660377358490566 TTTCAGACTTGAAGTCAGAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 824 1886 0.795034531328519 0.805410494667065 0.800222512997792 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA -0.166604423172388 -0.0721645650672116 0.884950031685768 0.919607007117591 NA -0.1193844941198 NA FALSE NA 0 -0.019 . intron_variant MODIFIER DNAJC13 HGNC 30343 ENST00000260818 37/55 rs202195909 1 NA G:0.0002 G:0.0001 AAA A 0.0002965 3:132499698 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 intron_variant 1.505435 0.19159 0.04356 0.099367 0.825305144234508 0.291706 0.999999999681765 TRUE 0.000418997 ENSE00000933900_002 ENSE00000933900 002 3 132218525 132218694 + 53 75 42 A G 132218544 3074 20 TTTCAGACTTGAAGTCAAAGTGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499699 132499700 132499700 upstr_intron -34 -0.622641509433962 TTTCAGACTTGAAGTCAAAGTGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 140 1413 0.970148965336412 0.958079751272913 0.964114358304663 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.00851001083550607 0.0805046915386367 0.884950031685768 0.919607007117591 NA 0.0445073511870714 NA FALSE NA 0.005 0.389 . intron_variant MODIFIER DNAJC13 HGNC 30343 ENST00000260818 37/55 1 NA AAT A 8.236e-06 3:132499700 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 intron_variant 1.751458 0.38345 0.15186 0.099367 0.895496648407263 0.291706 0.999999999681765 TRUE 8.26986e-06 ENSE00000933900_003 ENSE00000933900 003 3 132218525 132218694 + 53 75 42 C T 132218570 3075 46 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCTTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499725 132499726 132499726 upstr_intron -8 -0.132075471698113 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCTTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 16 362 1 0.991821611644938 0.995910805822469 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.0383610454990936 0.114246551910662 0.884950031685768 0.919607007117591 NA 0.0763037987048776 NA FALSE NA 0 -0.79 . splice_region_variant&intron_variant LOW DNAJC13 HGNC 30343 ENST00000260818 37/55 1 NA CCT C 8.236e-06 3:132499726 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 splice_region_variant 0.340713 0.20643 0.05648 0.156188 0.837198617149084 0.375276 0.999999999681765 TRUE 4.07213e-06 ENSE00000933900_004 ENSE00000933900 004 3 132218525 132218694 + 53 75 42 T C 132218573 3076 49 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCCGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499728 132499729 132499729 upstr_intron -5 -0.0754716981132075 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCCGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 60 96 0.967849040856637 0.985747768485808 0.976798404671223 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.00621008635573028 0.108172708751532 0.884950031685768 0.919607007117591 NA 0.0571913975536311 NA FALSE NA 0 0.395 . splice_region_variant&intron_variant LOW DNAJC13 HGNC 30343 ENST00000260818 37/55 1 NA CTG T 8.236e-06 3:132499729 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 splice_region_variant -0.054807 0.2077 0.17638 0.156188 0.551189836401378 0.396693 0.999999999681765 TRUE 4.06762e-06 ENSE00000933900_006 ENSE00000933900 006 3 132218525 132218694 + 53 75 42 C T 132218601 3078 77 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGTTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499756 132499757 132499757 exon 24 0.32 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGTTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 25 1582 0.64932716541474 0.8 0.72466358270737 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA -0.312311789086166 -0.0775750597342765 0.884950031685768 0.919607007117591 NA -0.194943424410221 NA FALSE NA 0.991 0.184 . synonymous_variant LOW DNAJC13 HGNC 30343 ENST00000260818 38/56 rs199774388 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCT C 0.0003789 3:132499757 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 synonymous_variant 1.848314 0.96508 0.82063 0.706548 0.797683116549927 0 0.999999999681765 TRUE 0.000512137 ENSE00000933900_008 ENSE00000933900 008 3 132218525 132218694 + 53 75 42 C A 132218613 3080 89 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTATTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499768 132499769 132499769 exon 36 0.48 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTATTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 37 126 0.804346284390377 0.801146217063878 0.802746250727128 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA -0.157292670110529 -0.0764288426703982 0.884950031685768 0.919607007117591 NA -0.116860756390464 NA FALSE NA 1 0.881 rs148360551 synonymous_variant LOW DNAJC13 HGNC 30343 ENST00000260818 38/56 rs148360551 1 NA A:0 A:0.0002 TCT C 8.236e-06 3:132499769 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 synonymous_variant 2.490054 0.9832 0.92171 0.706548 0.857201423859925 0 0.999999999681765 TRUE 1.21923e-05 ENSE00000933900_009 ENSE00000933900 009 3 132218525 132218694 + 53 75 42 G A 132218621 3081 97 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCATGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499776 132499777 132499777 exon -32 0.586666666666667 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCATGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 438 1130 0.669853602713029 0.800127774509003 0.734990688611016 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA -0.291785351787877 -0.077447285225274 0.884950031685768 0.919607007117591 NA -0.184616318506576 NA FALSE NA 1 2.697 rs61748103 missense_variant MODERATE DNAJC13 HGNC 30343 ENST00000260818 38/56 rs61748103 1 tolerated(0.23) benign(0.001) A:0.0056 A:0.0023 A:0.0029 NA A:0 A:0.0109 A:0.0123 A:0.0005 A:0.01 CGT G 0.009118 3:132499777 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 missense_variant 3.600232 0.97628 0.91629 0.706548 0.846297774941893 0 0.999999999681765 TRUE 0.00906822 ENSE00000933900_011 ENSE00000933900 011 3 132218525 132218694 + 53 75 42 G A 132218627 3083 103 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAATAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499782 132499783 132499783 exon -26 0.666666666666667 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAATAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 55 995 0.95 0.996920003687277 0.973460001843638 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA -0.0116389545009065 0.119344943953 0.884950031685768 0.919607007117591 NA 0.053852994726047 NA FALSE NA 1 9.198 . missense_variant MODERATE DNAJC13 HGNC 30343 ENST00000260818 38/56 1 deleterious(0) probably_damaging(0.951) NA AGT G 2.471e-05 3:132499783 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 missense_variant 6.478818 0.99394 0.99515 0.706548 0.997530283784643 0 0.999999999681765 TRUE 1.62595e-05 ENSE00000933900_012 ENSE00000933900 012 3 132218525 132218694 + 53 75 42 G A 132218636 3084 112 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAATGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499791 132499792 132499792 exon -17 0.786666666666667 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAATGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 175 948 0.802492758635756 0.809995101063053 0.806243929849405 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA -0.15914619586515 -0.0675799586712239 0.884950031685768 0.919607007117591 NA -0.113363077268187 NA FALSE NA 1 3.884 . missense_variant MODERATE DNAJC13 HGNC 30343 ENST00000260818 38/56 rs577390595 1 tolerated(0.28) benign(0) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGT G 0.0002224 3:132499792 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 missense_variant 2.834394 0.97333 0.80029 0.706548 0.982524246414026 0 0.999999999681765 TRUE 0.000182936 ENSE00000933900_013 ENSE00000933900 013 3 132218525 132218694 + 53 75 42 A G 132218641 3085 117 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACGTGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499796 132499797 132499797 exon -12 0.853333333333333 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACGTGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 65 622 1 0.998017741725518 0.999008870862759 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.0383610454990936 0.120442681991242 0.884950031685768 0.919607007117591 NA 0.0794018637451677 NA FALSE NA 1 8.708 . missense_variant MODERATE DNAJC13 HGNC 30343 ENST00000260818 38/56 rs530776612 1 tolerated(0.52) benign(0.004) NA CAT A 4.942e-05 3:132499797 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 missense_variant 1.070663 0.99222 0.99544 0.706548 0.921047585627949 0 0.999999999681765 TRUE 3.25333e-05 ENSE00000933900_016 ENSE00000933900 016 3 132218525 132218694 + 53 75 42 G A 132218655 3088 131 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTAAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499810 132499811 132499811 downstr_intron 3 1.07317073170732 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTAAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 929 1325 1 0.990808321695585 0.995404160847792 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.0383610454990936 0.113233261961308 0.884950031685768 0.919607007117591 NA 0.0757971537302009 NA FALSE NA 1 1.017 . splice_region_variant&intron_variant LOW DNAJC13 HGNC 30343 ENST00000260818 38/55 1 NA TGA G 8.236e-06 3:132499811 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 splice_region_variant 1.730762 0.94228 0.58629 0.156188 0.832788037368591 0.603545 0.999999999681765 TRUE 1.22332e-05 ENSE00000933900_017 ENSE00000933900 017 3 132218525 132218694 + 53 75 42 G A 132218658 3089 134 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGACTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499813 132499814 132499814 downstr_intron 6 1.14634146341463 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGACTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 572 112 0.985476645924101 0.998282729988663 0.991879687956382 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.0238376914231947 0.120707670254386 0.884950031685768 0.919607007117591 NA 0.0722726808387906 NA FALSE NA 0.948 0.759 . splice_region_variant&intron_variant LOW DNAJC13 HGNC 30343 ENST00000260818 38/55 rs370376986 1 NA A:0.0005 A:0 GGC G 1.647e-05 3:132499814 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 splice_region_variant 0.195181 0.92742 0.46542 0.099367 0.682660088517462 0.447985 0.999999999681765 TRUE 8.18793e-06 ENSE00000933900_018 ENSE00000933900 018 3 132218525 132218694 + 53 75 42 C T 132218665 3090 141 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAATCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499820 132499821 132499821 downstr_intron 13 1.31707317073171 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAATCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 139 776 0.990123571604759 0.995667695274888 0.992895633439823 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.0284846171038524 0.118092635540611 0.884950031685768 0.919607007117591 NA 0.0732886263222318 NA FALSE NA 0 -0.863 . intron_variant MODIFIER DNAJC13 HGNC 30343 ENST00000260818 38/55 1 NA ACC C 8.237e-06 3:132499821 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 intron_variant 0.184423 0.16835 0.01729 0.062308 0.667354020045083 0.0652934 0.999999999681765 TRUE 4.10813e-06 ENSE00000933900_019 ENSE00000933900 019 3 132218525 132218694 + 53 75 42 C G 132218666 3091 142 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACGTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 132499821 132499822 132499822 downstr_intron 14 1.34146341463415 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACGTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 1854 515 0.992744036910257 0.991435329912466 0.992089683411361 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.0311050824093502 0.113860270178189 0.884950031685768 0.919607007117591 NA 0.0724826762937698 NA FALSE NA 0 -3.019 . intron_variant MODIFIER DNAJC13 HGNC 30343 ENST00000260818 38/55 1 NA CCT C 8.237e-06 3:132499822 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 intron_variant 0.005712 0.14328 0.01675 0.062308 0.578381120496255 0.0652934 0.999999999681765 TRUE 4.10998e-06 ENSE00000933900_021 ENSE00000933900 021 3 132218525 132218694 + 53 75 42 T C 132218683 3093 159 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAACTGCACTAGTTC 132499680 132499850 132499838 132499839 132499839 downstr_intron 31 1.75609756097561 TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAACTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC mutant NA NA NA NA NA 177 79 0.976443178468728 0.999516809273229 0.987979993870978 0.85 0.919900063371536 0.961638954500906 0.877575059734277 NA NA 0.0148042239678211 0.121941749538952 0.884950031685768 0.919607007117591 NA 0.0683729867533866 NA FALSE NA 0.001 0.162 . intron_variant MODIFIER DNAJC13 HGNC 30343 ENST00000260818 38/55 1 NA ATT T 1.647e-05 3:132499839 DNAJC13 HGNC Symbol protein_coding 121506 ENSG00000138246 ENSE00000933900 intron_variant -0.072234 0.16732 0.02355 0.062308 0.660665344007805 0.0662152 0.999999999681765 TRUE 2.06434e-05 ENSE00000933900_BRK ENSE00000933900 BRK 3 132218525 132218694 + 53 75 42 A,G; T,T NA NA NA TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCTTGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGCCGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC 132499680 132499850 NA NA NA NA NA NA TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCTTGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGCCGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC TTTCAGACTTGAAGTCAAAATGGAGAGTTAATAGCTGACTTCTTCCTCTGCAGGTGTTACAAGAGGCATTTAGTCGCTGTGTGGCTGTCTTGACTCGTGCTAGTAAACCAAGTGACATGTCAGTACAGGTGAGGCTAAAACCTGTGGTTCCAAGAAAATTGCACTAGTTC control 117 316 0 0 0 NA NA NA NA NA 0.85 0.919900063371536 0.961638954500906 0.877575059734277 -0.85 -0.919900063371536 NA NA 0.884950031685768 0.919607007117591 -0.884950031685768 NA NA NA TRUE NA NA NA NA NA DNAJC13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAJC13 NA NA NA ENSG00000138246 ENSE00000933900 NA NA NA NA NA NA NA 0.999999999681765 TRUE NA ENSE00000933949_000 ENSE00000933949 000 3 133327682 133327851 - 35 90 45 NA NA NA NA NA GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 NA NA NA NA NA NA GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT natural 436 603 0.85 0.837146359812482 0.843573179906241 3795 6910 0.865710927103715 0.68479820951001 0.775254568306863 0.85 0.837146359812482 0.865710927103715 0.68479820951001 0 0 0 0 0.843573179906241 0.775254568306863 0 0 0 FALSE FALSE NA NA NA NA NA TOPBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOPBP1 NA NA NA ENSG00000163781 ENSE00000933949 NA NA NA NA NA NA NA 0.999999933511461 TRUE NA ENSE00000933949_001 ENSE00000933949 001 3 133327682 133327851 - 35 90 45 A G 133327700 3113 152 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAACTTACTGACCTTTTTACAT 133608837 133609007 133608855 133608856 133608856 downstr_intron 17 1.5 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAACTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 599 183 0.823680428067038 0.841006592915303 0.832343510491171 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA -0.0420304990366774 0.156208383405293 0.843573179906241 0.775254568306863 NA 0.0570889421843079 NA FALSE NA 0.007 0.707 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 1 NA AAT A,G 1.656e-05 3:133608856 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 intron_variant -0.396826 0.21861 0.12228 0.295142 0.350664923378963 0.102636 0.999999933511461 TRUE 1.29221e-05 ENSE00000933949_003 ENSE00000933949 003 3 133327682 133327851 - 35 90 45 A C 133327738 3115 114 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTGCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608893 133608894 133608894 exon -22 0.766666666666667 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTGCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 185 1397 0.00162599549546169 0.0567672426526866 0.0291966190740741 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA -0.864084931608253 -0.628030966857324 0.843573179906241 0.775254568306863 NA -0.746057949232789 NA TRUE NA 0.997 0.663 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 1 NA GAA A,C 8.278e-06 3:133608894 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 synonymous_variant -0.686388 0.96971 0.83148 0.732398 0.738381237516802 0 0.999999933511461 TRUE 4.0847e-06 ENSE00000933949_005 ENSE00000933949 005 3 133327682 133327851 - 35 90 45 C T 133327742 3117 110 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACACCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608897 133608898 133608898 exon -26 0.722222222222222 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACACCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 145 369 0.997591859032144 0.996670750476751 0.997131304754448 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA 0.131880931928429 0.311872540966741 0.843573179906241 0.775254568306863 NA 0.221876736447585 NA FALSE NA 1 7.82 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 1 NA GCG C,T 1.656e-05 3:133608898 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 missense_variant 8.08159 0.99445 0.99208 0.732398 0.99941031644255 0 0.999999933511461 TRUE 4.07917e-06 ENSE00000933949_006 ENSE00000933949 006 3 133327682 133327851 - 35 90 45 G A 133327743 3118 109 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAATGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608898 133608899 133608899 exon -27 0.711111111111111 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAATGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 325 373 0.530402654390168 0.494893937869827 0.512648296129998 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA -0.335308272713547 -0.189904271640183 0.843573179906241 0.775254568306863 NA -0.262606272176865 NA FALSE NA 1 6.315 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 COSM3767261&COSM3767260 1 NA CGT G,A 8.278e-06 3:133608899 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 missense_variant 7.859883 0.99039 0.98448 0.732398 0.999285688209279 0 0.999999933511461 TRUE 1.22326e-05 ENSE00000933949_007 ENSE00000933949 007 3 133327682 133327851 - 35 90 45 T G 133327769 3119 83 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGCTCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608924 133608925 133608925 exon 38 0.422222222222222 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGCTCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 265 523 0.0177991822889432 0.000967200412683178 0.00938319135081318 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA -0.847911744814772 -0.683831009097327 0.843573179906241 0.775254568306863 NA -0.765871376956049 NA TRUE NA 1 6.297 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 rs544290226 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 ATC T,G 0.000149 3:133608925 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 missense_variant 3.840564 0.98841 0.98701 0.732398 0.996008556819963 0 0.999999933511461 TRUE 0.00015885 ENSE00000933949_008 ENSE00000933949 008 3 133327682 133327851 - 35 90 45 A G 133327774 3120 78 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACACGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608929 133608930 133608930 exon 33 0.366666666666667 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACACGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 1051 1104 0.986756542367646 0.994911184724498 0.990833863546072 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA 0.12104561526393 0.310112975214487 0.843573179906241 0.775254568306863 NA 0.215579295239209 NA FALSE NA 1 1.646 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 1 NA CAT A,G 8.279e-06 3:133608930 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 synonymous_variant 0.079685 0.97856 0.86973 0.732398 0.535852850391378 0 0.999999933511461 TRUE 4.07521e-06 ENSE00000933949_009 ENSE00000933949 009 3 133327682 133327851 - 35 90 45 C T 133327786 3121 66 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAAGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608941 133608942 133608942 exon 21 0.233333333333333 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAAGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 56 972 0.971081257713846 0.920715509586065 0.945898383649956 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA 0.105370330610131 0.235917300076055 0.843573179906241 0.775254568306863 NA 0.170643815343093 NA FALSE NA 0.057 -0.647 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 1 NA CCT C,T 1.656e-05 3:133608942 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 synonymous_variant 2.223117 0.95655 0.1703 0.732398 0.608098804594925 0 0.999999933511461 TRUE 2.45242e-05 ENSE00000933949_010 ENSE00000933949 010 3 133327682 133327851 - 35 90 45 C T 133327794 3122 58 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTAGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608949 133608950 133608950 exon 13 0.144444444444444 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTAGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 128 247 0.959183493738992 0.957190988224788 0.95818724098189 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA 0.0934725666352773 0.272392778714778 0.843573179906241 0.775254568306863 NA 0.182932672675028 NA FALSE NA 1 7.82 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 1 NA CCA C,T 8.28e-06 3:133608950 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 missense_variant 7.222496 0.99445 0.99208 0.732398 0.999244993643068 0 0.999999933511461 TRUE 4.10907e-06 ENSE00000933949_011 ENSE00000933949 011 3 133327682 133327851 - 35 90 45 A G 133327798 3123 54 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTCAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608953 133608954 133608954 exon 9 0.1 GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTCAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 396 155 0.99537067299947 0.871676106295962 0.933523389647716 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA 0.129659745895755 0.186877896785951 0.843573179906241 0.775254568306863 NA 0.158268821340853 NA FALSE NA 1 1.902 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 1 NA TAA A,G 1.656e-05 3:133608954 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 synonymous_variant 0.839414 0.97015 0.75564 0.732398 0.697465477684131 0 0.999999933511461 TRUE 1.23636e-05 ENSE00000933949_012 ENSE00000933949 012 3 133327682 133327851 - 35 90 45 A G 133327820 3124 32 GTTATTTTCCAAATGATTTCACCACTGATTGCTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 133608975 133608976 133608976 upstr_intron -14 -0.288888888888889 GTTATTTTCCAAATGATTTCACCACTGATTGCTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT mutant NA NA NA NA NA 321 2391 0.0181206391745119 0.00962523302695991 0.0138729361007359 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA -0.847590287929203 -0.67517297648305 0.843573179906241 0.775254568306863 NA -0.761381632206127 NA TRUE NA 0.355 1.244 . upstream_gene_variant MODIFIER TOPBP1 HGNC 17008 ENST00000503464 1 NA AAC A,G 8.28e-06 3:133608976 TOPBP1 HGNC Symbol protein_coding 64205 ENSG00000163781 ENSE00000933949 intron_variant 0.311664 0.28395 0.06988 0.106106 0.716572912352276 0.178745 0.999999933511461 TRUE 4.28016e-06 ENSE00000933949_BRK ENSE00000933949 BRK 3 133327682 133327851 - 35 90 45 A,G; T,T NA NA NA GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTTTGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGCCTTGTATCAAATTAATTTACTGACCTTTTTACAT 133608837 133609007 NA NA NA NA NA NA GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTTTGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGCCTTGTATCAAATTAATTTACTGACCTTTTTACAT GTTATTTTCCAAATGATTTCACCACTGATTGTTTTTTATTTGTAGGGAGCATTTAGTGGGTGGAAGGTTATTTTACATGTGGATCAGTCTCGAGAAGCAGGCTTCAAACGCCTTCTTCAGTCAGGAGGAGCAAAGGTTTGTATCAAATTAATTTACTGACCTTTTTACAT control NA NA NA NA NA 48 936 0.114032793369593 0 0.0570163966847965 0.85 0.837146359812482 0.865710927103715 0.68479820951001 NA NA -0.751678133734122 -0.68479820951001 0.843573179906241 0.775254568306863 NA -0.718238171622066 NA TRUE NA NA NA NA NA NA TOPBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOPBP1 NA NA NA ENSG00000163781 ENSE00000933949 NA NA NA NA NA NA NA 0.999999933511461 TRUE NA ENSE00000934028_000 ENSE00000934028 000 3 153912380 153912549 + 53 75 42 NA NA NA NA NA ATGGTTTCCTGTCTTACAAACAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGTCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 NA NA NA NA NA NA TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT natural NA NA NA NA NA 4772 2303 0.973277097160123 0.990645212373088 0.981961154766606 NA NA 0.973277097160123 0.990645212373088 NA NA 0 0 NA 0.981961154766606 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF26 NA NA NA ENSG00000114790 ENSE00000934028 NA NA NA NA NA NA NA 5.99162897861342e-06 FALSE NA ENSE00000934028_002 ENSE00000934028 002 3 153912380 153912549 + 53 75 42 T C 153912395 3392 16 ATGGTTTCCTGTCTTACAAACAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGTCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTGTTTTATTAAGTAAAA 154194590 154194760 154194605 154194606 154194606 upstr_intron -38 -0.69811320754717 TTTTACTTAATAAAACAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 552 1135 0.998272545955761 0.999860633709521 0.999066589832641 NA NA 0.973277097160123 0.990645212373088 NA NA 0.0249954487956381 0.00921542133643327 NA 0.981961154766606 NA 0.0171054350660357 NA FALSE NA 0 -0.195 NA NA NA ARHGEF26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:154194606 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 intron_variant 0.183918 0.1748 0.02514 0.053691 0.357592995728143 0.0682314 5.99162897861342e-06 FALSE 1.66058e-05 ENSE00000934028_008 ENSE00000934028 008 3 153912380 153912549 + 53 75 42 T G 153912408 3398 29 ATGGTTTCCTGTCTTACAAACAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGTCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAACATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194618 154194619 154194619 upstr_intron -25 -0.452830188679245 TTTTACTTAATAAAATAGATCAATAAATGTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 281 77 0.920508670445213 1 0.960254335222607 NA NA 0.973277097160123 0.990645212373088 NA NA -0.0527684267149099 0.00935478762691211 NA 0.981961154766606 NA -0.0217068195439989 NA FALSE NA 0.002 1.26 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA TTT T,G 1.659e-05 3:154194619 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 intron_variant 0.647576 0.19924 0.11454 0.053691 0.643310635328075 0.0682314 5.99162897861342e-06 FALSE 1.92247e-05 ENSE00000934028_009 ENSE00000934028 009 3 153912380 153912549 + 53 75 42 C G 153912438 3399 59 ATGGTTTCCTGTCTTACAAACAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGTCCTTAGGTGTTTTTTGACACATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194648 154194649 154194649 exon 6 0.08 TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATGTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 402 681 1 1 1 NA NA 0.973277097160123 0.990645212373088 NA NA 0.0267229028398767 0.00935478762691211 NA 0.981961154766606 NA 0.0180388452333944 NA FALSE NA 1 0.922 rs146072099 intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs146072099 1 G:0.0056 G:0 G:0.0317 NA G:0 G:0 G:0.0061 G:0.0003 G:0.0004 TCT C,G 0.004812 3:154194649 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 missense_variant 5.028452 0.97921 0.84552 0.615465 0.995283985044991 0 5.99162897861342e-06 FALSE 0.00601955 ENSE00000934028_011 ENSE00000934028 011 3 153912380 153912549 + 53 75 42 A G 153912444 3401 65 ATGGTTTCCTGTCTTACAAACAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGTCCTTAGGTGTTTTCTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194654 154194655 154194655 exon 12 0.16 TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAGAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 16 63 1 1 1 NA NA 0.973277097160123 0.990645212373088 NA NA 0.0267229028398767 0.00935478762691211 NA 0.981961154766606 NA 0.0180388452333944 NA FALSE NA 1 1.036 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA AAA A,G 8.282e-06 3:154194655 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 synonymous_variant 0.165196 0.93584 0.21034 0.615465 0.441143321913219 0 5.99162897861342e-06 FALSE 8.2513e-06 ENSE00000934028_013 ENSE00000934028 013 3 153912380 153912549 + 53 75 42 A G 153912458 3403 79 ATGGTTTCCTGTCTTACAAACAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGCCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194668 154194669 154194669 exon 26 0.346666666666667 TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGGCTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 482 60 0.989841551021714 0.964835823853461 0.977338687437588 NA NA 0.973277097160123 0.990645212373088 NA NA 0.016564453861591 -0.0258093885196264 NA 0.981961154766606 NA -0.00462246732901772 NA FALSE NA 1 6.371 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 COSM1040151&COSM1040152&COSM1040153 1 NA GAC A,G 8.28e-06 3:154194669 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 missense_variant 3.181961 0.98395 0.95706 0.615465 0.998071612839295 0 5.99162897861342e-06 FALSE 4.09668e-06 ENSE00000934028_016 ENSE00000934028 016 3 153912380 153912549 + 53 75 42 G A 153912465 3406 86 ATGGTTTCCTGTCTTACAAACAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTTGGAGAGTCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194675 154194676 154194676 exon 33 0.44 TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCAAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 1946 1268 0.999044447879365 0.991804959633506 0.995424703756436 NA NA 0.973277097160123 0.990645212373088 NA NA 0.025767350719242 0.00115974726041801 NA 0.981961154766606 NA 0.01346354898983 NA FALSE NA 0 -2.19 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA CGA G,A 1.656e-05 3:154194676 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 synonymous_variant 1.093594 0.06218 0.01247 0.615465 0.420702008759044 0 5.99162897861342e-06 FALSE 2.04754e-05 ENSE00000934028_017 ENSE00000934028 017 3 153912380 153912549 + 53 75 42 G A 153912475 3407 96 ATGGTTTCCTGTCTTACAAACAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGATTTCATACTTCGGAGAGTCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194685 154194686 154194686 exon -33 0.573333333333333 TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAATCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 27 45 0.927095332417208 0.8 0.863547666208604 NA NA 0.973277097160123 0.990645212373088 NA NA -0.0461817647429154 -0.190645212373088 NA 0.981961154766606 NA -0.118413488558002 NA FALSE NA 0.995 1.966 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA AGT G,A 8.279e-06 3:154194686 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 missense_variant 3.125936 0.98269 0.87228 0.615465 0.991813775557573 0 5.99162897861342e-06 FALSE NA ENSE00000934028_024 ENSE00000934028 024 3 153912380 153912549 + 53 75 42 G T 153912518 3414 139 ATGGTTTCCTGTCTTACAAACAAACTGTCACACAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGTCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194728 154194729 154194729 downstr_intron 11 1.26829268292683 TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGTGTGACAGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 963 1316 0.998408003734094 0.974533864682398 0.986470934208246 NA NA 0.973277097160123 0.990645212373088 NA NA 0.0251309065739707 -0.0161113476906898 NA 0.981961154766606 NA 0.00450977944164044 NA FALSE NA 0.003 -0.355 rs115650273 intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs115650273 1 T:0.0030 T:0.0008 T:0 NA T:0 T:0.008 T:0.0061 T:0.0018 T:0.0112 GGG G,T 0.004835 3:154194729 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 intron_variant -0.214378 0.17784 0.00379 0.074636 0.437779808998453 0.081086 5.99162897861342e-06 FALSE 0.00515633 ENSE00000934028_025 ENSE00000934028 025 3 153912380 153912549 + 53 75 42 A T 153912524 3415 145 ATGGTTTCCTGTCTTACAAACAAACAGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGTCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194734 154194735 154194735 downstr_intron 17 1.41463414634146 TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACTGTTTGTTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 17 335 1 1 1 NA NA 0.973277097160123 0.990645212373088 NA NA 0.0267229028398767 0.00935478762691211 NA 0.981961154766606 NA 0.0180388452333944 NA FALSE NA 0 0.504 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA CAG A,T 4.968e-05 3:154194735 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 intron_variant -0.395548 0.18991 0.01192 0.074636 0.287690627067494 0.0606913 5.99162897861342e-06 FALSE 2.54539e-05 ENSE00000934028_026 ENSE00000934028 026 3 153912380 153912549 + 53 75 42 G A 153912529 3416 150 ATGGTTTCCTGTCTTACAAATAAACTGTCACCCAACAGTTACCTTGCTAACTTCCTTCAAGGCTCTTTTGCAGACTTCATACTTCGGAGAGTCCTTAGGTGTTTTTTGACAGATAGTCTGTAATGAAATAAAAGTGAACAAAATTTATTGATCTATTTTATTAAGTAAAA 154194590 154194760 154194739 154194740 154194740 downstr_intron 22 1.53658536585366 TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTATTTGTAAGACAGGAAACCAT TTTTACTTAATAAAATAGATCAATAAATTTTGTTCACTTTTATTTCATTACAGACTATCTGTCAAAAAACACCTAAGGACTCTCCGAAGTATGAAGTCTGCAAAAGAGCCTTGAAGGAAGTTAGCAAGGTAACTGTTGGGTGACAGTTTGTTTGTAAGACAGGAAACCAT mutant NA NA NA NA NA 442 20 0.990146703494015 1 0.995073351747008 NA NA 0.973277097160123 0.990645212373088 NA NA 0.0168696063338919 0.00935478762691211 NA 0.981961154766606 NA 0.013112196980402 NA FALSE NA 0 -1.793 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA TGT G,A 8.281e-06 3:154194740 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934028 intron_variant -0.404788 0.10822 0.00341 0.074636 0.324304502955932 0.0606913 5.99162897861342e-06 FALSE NA ENSE00000934029_000 ENSE00000934029 000 3 153935613 153935782 + 45 90 35 NA NA NA NA NA TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 NA NA NA NA NA NA TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT natural NA NA NA NA NA 802 694 0.99329364468129 1 0.996646822340645 NA NA 0.99329364468129 1 NA NA 0 0 NA 0.996646822340645 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF26 NA NA NA ENSG00000114790 ENSE00000934029 NA NA NA NA NA NA NA 5.99162897861342e-06 FALSE NA ENSE00000934029_002 ENSE00000934029 002 3 153935613 153935782 + 45 90 35 C G 153935636 3418 24 TTCTCTCCTTGACCTTTAACCCTGGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217846 154217847 154217847 upstr_intron -22 -0.466666666666667 TTCTCTCCTTGACCTTTAACCCTGGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 34 34 1 1 1 NA NA 0.99329364468129 1 NA NA 0.00670635531871 0 NA 0.996646822340645 NA 0.003353177659355 NA FALSE NA 0 -1.609 NA NA NA ARHGEF26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:154217847 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 intron_variant -0.210964 0.1597 0.04395 0.053691 0.377942711573015 0.156227 5.99162897861342e-06 FALSE 3.64682e-05 ENSE00000934029_006 ENSE00000934029 006 3 153935613 153935782 + 45 90 35 C G 153935653 3422 41 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTGCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217863 154217864 154217864 upstr_intron -5 -0.0888888888888889 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTGCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 413 85 0.980468715982073 0.99395887323148 0.987213794606777 NA NA 0.99329364468129 1 NA NA -0.0128249286992166 -0.0060411267685202 NA 0.996646822340645 NA -0.00943302773386839 NA FALSE NA 0.005 0.466 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs557681137 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCC C,G 2.486e-05 3:154217864 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 splice_region_variant 1.453729 0.2674 0.22825 0.074636 0.793433094847205 0.443904 5.99162897861342e-06 FALSE 1.40779e-05 ENSE00000934029_008 ENSE00000934029 008 3 153935613 153935782 + 45 90 35 C G 153935664 3424 52 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTGGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217874 154217875 154217875 exon 7 0.0777777777777778 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTGGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 214 658 0.956381606238051 0.98638317135983 0.971382388798941 NA NA 0.99329364468129 1 NA NA -0.0369120384432386 -0.0136168286401699 NA 0.996646822340645 NA -0.0252644335417043 NA FALSE NA 0.989 3.678 NA NA NA ARHGEF26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:154217875 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 missense_variant 6.750248 0.98264 0.97367 0.615465 0.998561890294321 0 5.99162897861342e-06 FALSE 3.60679e-05 ENSE00000934029_010 ENSE00000934029 010 3 153935613 153935782 + 45 90 35 G C 153935665 3426 53 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCCACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217875 154217876 154217876 exon 8 0.0888888888888889 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCCACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 835 332 0.867622122339026 0.983978213450859 0.925800167894942 NA NA 0.99329364468129 1 NA NA -0.125671522342264 -0.0160217865491413 NA 0.996646822340645 NA -0.0708466544457029 NA FALSE NA 1 7.119 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA CGA G,C 8.281e-06 3:154217876 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 missense_variant 6.959911 0.98904 0.991 0.615465 0.997560591142652 0 5.99162897861342e-06 FALSE NA ENSE00000934029_011 ENSE00000934029 011 3 153935613 153935782 + 45 90 35 T G 153935668 3427 56 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACGATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217878 154217879 154217879 exon 11 0.122222222222222 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACGATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 32 170 1 1 1 NA NA 0.99329364468129 1 NA NA 0.00670635531871 0 NA 0.996646822340645 NA 0.003353177659355 NA FALSE NA 0.907 3.47 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 COSM3720856&COSM3720855&COSM3720857 1 NA CTA T,G 8.281e-06 3:154217879 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 missense_variant 1.85103 0.98078 0.9279 0.615465 0.992610217030387 0 5.99162897861342e-06 FALSE NA ENSE00000934029_012 ENSE00000934029 012 3 153935613 153935782 + 45 90 35 A G 153935674 3428 62 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAGTGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217884 154217885 154217885 exon 17 0.188888888888889 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAGTGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 37 43 1 1 1 NA NA 0.99329364468129 1 NA NA 0.00670635531871 0 NA 0.996646822340645 NA 0.003353177659355 NA FALSE NA 1 8.521 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs576107579 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 AAT A,G 9.936e-05 3:154217885 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 missense_variant 5.69794 0.99289 0.99634 0.615465 0.99889619139561 0 5.99162897861342e-06 FALSE 8.82208e-05 ENSE00000934029_016 ENSE00000934029 016 3 153935613 153935782 + 45 90 35 C A 153935685 3432 73 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCAGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217895 154217896 154217896 exon 28 0.311111111111111 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCAGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 154 72 1 1 1 NA NA 0.99329364468129 1 NA NA 0.00670635531871 0 NA 0.996646822340645 NA 0.003353177659355 NA FALSE NA 0.992 2.756 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:154217896 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 synonymous_variant 2.982816 0.98647 0.94048 0.615465 0.730377956332603 0 5.99162897861342e-06 FALSE NA ENSE00000934029_017 ENSE00000934029 017 3 153935613 153935782 + 45 90 35 C G 153935685 3433 73 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCGGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217895 154217896 154217896 exon 28 0.311111111111111 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCGGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 602 18 0.995216651020135 1 0.997608325510067 NA NA 0.99329364468129 1 NA NA 0.00192300633884468 0 NA 0.996646822340645 NA 0.00096150316942234 NA FALSE NA 0.992 2.756 NA NA NA ARHGEF26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF26 NA NA NA ENSG00000114790 ENSE00000934029 missense_variant 6.581675 0.98704 0.95511 0.615465 0.997068680707052 0 5.99162897861342e-06 FALSE 8.71954e-06 ENSE00000934029_018 ENSE00000934029 018 3 153935613 153935782 + 45 90 35 G A 153935686 3434 74 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCAGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217896 154217897 154217897 exon 29 0.322222222222222 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCAGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 803 419 0.999073837897271 1 0.999536918948636 NA NA 0.99329364468129 1 NA NA 0.00578019321598133 0 NA 0.996646822340645 NA 0.00289009660799067 NA FALSE NA 1 7.219 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs374617836 1 NA A:0.0003 A:0.0002 CGG G,A 9.107e-05 3:154217897 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 missense_variant 5.965691 0.99468 0.98401 0.615465 0.999585521558249 0 5.99162897861342e-06 FALSE NA ENSE00000934029_020 ENSE00000934029 020 3 153935613 153935782 + 45 90 35 A G 153935721 3436 109 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTGACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217931 154217932 154217932 exon -27 0.711111111111111 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTGACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 121 47 1 1 1 NA NA 0.99329364468129 1 NA NA 0.00670635531871 0 NA 0.996646822340645 NA 0.003353177659355 NA FALSE NA 1 6.584 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs375073496 1 NA G:0.0003 G:0 TAA A,G 8.288e-06 3:154217932 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 missense_variant 3.249001 0.98784 0.96381 0.638212 0.997128728562717 0 5.99162897861342e-06 FALSE NA ENSE00000934029_021 ENSE00000934029 021 3 153935613 153935782 + 45 90 35 G A 153935732 3437 120 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTAGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT 154217823 154217993 154217942 154217943 154217943 exon -16 0.833333333333333 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTAGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 189 87 0.922646666154653 0.918112221433038 0.920379443793846 NA NA 0.99329364468129 1 NA NA -0.0706469785266367 -0.0818877785669616 NA 0.996646822340645 NA -0.0762673785467992 NA FALSE NA 1 9.027 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs377586956 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0003 A:0 TGG G,A 8.3e-06 3:154217943 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 synonymous_variant 1.186976 0.99465 0.98944 0.638212 0.795941091164309 0 5.99162897861342e-06 FALSE NA ENSE00000934029_023 ENSE00000934029 023 3 153935613 153935782 + 45 90 35 C T 153935771 3439 159 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTATTGTTCTTGCCT 154217823 154217993 154217981 154217982 154217982 downstr_intron 24 1.70588235294118 TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTATTGTTCTTGCCT TTCTCTCCTTGACCTTTAACCCTCGTTACTCTTCTGTGTTCCCAGTTGGTTCGACTATGCAATGAGGGCGCCCGGAAGATGGAAAGGACTGAGATGATGTACACAATTAACTCCCAGCTGGAATTTAAAATTAAGGTATTCTCGTACCTTGTTCATTACTGTTCTTGCCT mutant NA NA NA NA NA 37 404 1 1 1 NA NA 0.99329364468129 1 NA NA 0.00670635531871 0 NA 0.996646822340645 NA 0.003353177659355 NA FALSE NA 0 -0.752 rs112433679 intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs112433679 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0029 T:0 ACT C,T 0.0002919 3:154217982 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00000934029 intron_variant -0.097773 0.18665 0.00923 0.053691 0.603655961779414 0.104877 5.99162897861342e-06 FALSE 0.000480059 ENSE00000934494_000 ENSE00000934494 000 2 192265061 192265230 + 47 87 36 NA NA NA NA NA TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 NA NA NA NA NA NA TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC natural 40 36 0.999574609254666 1 0.999787304627333 379 947 0.999190359876066 0.99800621752896 0.998598288702513 0.999574609254666 1 0.999190359876066 0.99800621752896 0 0 0 0 0.999787304627333 0.998598288702513 0 0 0 FALSE FALSE NA NA NA NA NA MYO1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1B NA NA NA ENSG00000128641 ENSE00000934494 NA NA NA NA NA NA NA 0.878004107551654 FALSE NA ENSE00000934494_001 ENSE00000934494 001 2 192265061 192265230 + 47 87 36 C T 192265076 3983 16 TCCTTTATTTTTAAATATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400349 191400350 191400350 upstr_intron -32 -0.659574468085106 TCCTTTATTTTTAAATATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 1451 279 0.981835698530688 0.984760864571762 0.983298281551225 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.0173546613453774 -0.0132453529571979 0.999787304627333 0.998598288702513 NA -0.0153000071512877 NA FALSE NA 0 -1.056 . intron_variant MODIFIER MYO1B HGNC 7596 ENST00000392316 20/28 1 NA ACA C,T 8.236e-06 2:191400350 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 0.477143 0.15679 0.00912 0.106106 0.731185804919631 0.046323 0.878004107551654 FALSE 4.06124e-06 ENSE00000934494_003 ENSE00000934494 003 2 192265061 192265230 + 47 87 36 T G 192265081 3985 21 TCCTTTATTTTTAAACATTCGCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400354 191400355 191400355 upstr_intron -27 -0.553191489361702 TCCTTTATTTTTAAACATTCGCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 434 680 0.985389018324436 0.998245963905564 0.991817491115 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.0138013415516296 0.000239746376604288 0.999787304627333 0.998598288702513 NA -0.00678079758751265 NA FALSE NA 0 -0.057 . intron_variant MODIFIER MYO1B HGNC 7596 ENST00000392316 20/28 1 NA CTC T,G 8.236e-06 2:191400355 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 1.246679 0.1821 0.14393 0.106106 0.678915714599422 0.046323 0.878004107551654 FALSE 4.06081e-06 ENSE00000934494_004 ENSE00000934494 004 2 192265061 192265230 + 47 87 36 T C 192265088 3986 28 TCCTTTATTTTTAAACATTCTCTCTTTCGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400361 191400362 191400362 upstr_intron -20 -0.404255319148936 TCCTTTATTTTTAAACATTCTCTCTTTCGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 248 191 0.991790301812644 1 0.995895150906322 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.00740005806342126 0.0019937824710401 0.999787304627333 0.998598288702513 NA -0.00270313779619058 NA FALSE NA 0 0.227 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:191400362 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 0.99968 0.1542 0.04733 0.106106 0.656782369790501 0.0851235 0.878004107551654 FALSE 4.06088e-06 ENSE00000934494_005 ENSE00000934494 005 2 192265061 192265230 + 47 87 36 T G 192265088 3987 28 TCCTTTATTTTTAAACATTCTCTCTTTGGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400361 191400362 191400362 upstr_intron -20 -0.404255319148936 TCCTTTATTTTTAAACATTCTCTCTTTGGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 381 508 0.991374504035158 0.999688549710803 0.995531526872981 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.00781585584090738 0.00168233218184288 0.999787304627333 0.998598288702513 NA -0.00306676182953225 NA FALSE NA 0 0.227 NA NA NA MYO1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1B NA NA NA ENSG00000128641 ENSE00000934494 intron_variant 1.091742 0.16426 0.05577 0.106106 0.675097455988209 0.0851235 0.878004107551654 FALSE 4.06088e-06 ENSE00000934494_006 ENSE00000934494 006 2 192265061 192265230 + 47 87 36 G C 192265090 3988 30 TCCTTTATTTTTAAACATTCTCTCTTTTGCGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400363 191400364 191400364 upstr_intron -18 -0.361702127659574 TCCTTTATTTTTAAACATTCTCTCTTTTGCGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 135 660 1 1 1 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.00140171129748717 NA FALSE NA 0 0.071 . intron_variant MODIFIER MYO1B HGNC 7596 ENST00000392316 20/28 1 NA GGG G,C 2.471e-05 2:191400364 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 0.917965 0.1867 0.08904 0.106106 0.657600291078888 0.113898 0.878004107551654 FALSE 2.43661e-05 ENSE00000934494_007 ENSE00000934494 007 2 192265061 192265230 + 47 87 36 G T 192265099 3989 39 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTTCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400372 191400373 191400373 upstr_intron -9 -0.170212765957447 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTTCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 520 2681 1 0.952725535896415 0.976362767948208 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 -0.0452806816325448 0.999787304627333 0.998598288702513 NA -0.0222355207543053 NA FALSE NA 0 0.13 . intron_variant MODIFIER MYO1B HGNC 7596 ENST00000392316 20/28 1 NA TGC G,T 1.647e-05 2:191400373 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 0.540007 0.2603 0.12382 0.106106 0.697414920461806 0.153832 0.878004107551654 FALSE 8.12183e-06 ENSE00000934494_008 ENSE00000934494 008 2 192265061 192265230 + 47 87 36 T C 192265105 3990 45 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTCAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400378 191400379 191400379 upstr_intron -3 -0.0425531914893617 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTCAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 49 964 1 0.9960419976977 0.99802099884885 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 -0.00196421983126027 0.999787304627333 0.998598288702513 NA -0.00057728985366301 NA FALSE NA 0.042 0.283 . splice_region_variant&intron_variant LOW MYO1B HGNC 7596 ENST00000392316 20/28 1 NA TTA T,C 8.236e-06 2:191400379 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 splice_region_variant 0.31774 0.2149 0.06808 0.106106 0.571252768017436 0.357187 0.878004107551654 FALSE 8.12176e-06 ENSE00000934494_009 ENSE00000934494 009 2 192265061 192265230 + 47 87 36 G A 192265112 3991 52 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCAAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400385 191400386 191400386 exon 5 0.0574712643678161 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCAAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 60 661 1 0.98404746257687 0.992023731288435 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 -0.0139587549520903 0.999787304627333 0.998598288702513 NA -0.00657455741407803 NA FALSE NA 1 9.415 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 1 deleterious(0) probably_damaging(0.996) NA CGA G,A 2.471e-05 2:191400386 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 8.047695 0.9756 0.9787 0.732398 0.999538179183717 0 0.878004107551654 FALSE 1.62439e-05 ENSE00000934494_010 ENSE00000934494 010 2 192265061 192265230 + 47 87 36 C T 192265123 3992 63 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGTGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400396 191400397 191400397 exon 16 0.183908045977011 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGTGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 379 204 0.996048405606636 0.999813229105424 0.99793081735603 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.00314195426942998 0.00180701157646412 0.999787304627333 0.998598288702513 NA -0.000667471346482928 NA FALSE NA 0.997 0.526 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 rs200675888&COSM4089761&COSM4089760 1 deleterious(0) possibly_damaging(0.888) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCG C,T 4.942e-05 2:191400397 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 7.949783 0.90674 0.80273 0.732398 0.999137182509872 0 0.878004107551654 FALSE 6.09117e-05 ENSE00000934494_011 ENSE00000934494 011 2 192265061 192265230 + 47 87 36 G A 192265124 3993 64 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCAGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400397 191400398 191400398 exon 17 0.195402298850575 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCAGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 823 27 0.856184972951995 0.92304835442938 0.889616663690687 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.143005386924071 -0.07495786309958 0.999787304627333 0.998598288702513 NA -0.108981625011826 NA FALSE NA 1 9.415 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 1 deleterious(0.02) possibly_damaging(0.796) NA CGG G,A 8.236e-06 2:191400398 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 7.231401 0.97702 0.97942 0.732398 0.999522052309426 0 0.878004107551654 FALSE 1.21825e-05 ENSE00000934494_012 ENSE00000934494 012 2 192265061 192265230 + 47 87 36 A G 192265133 3994 73 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAGGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400406 191400407 191400407 exon 26 0.298850574712644 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAGGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 103 12 1 1 1 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.00140171129748717 NA FALSE NA 1 8.906 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 1 tolerated(0.42) probably_damaging(0.991) NA AAG A,G 6.589e-05 2:191400407 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 5.008868 0.97215 0.97764 0.732398 0.985057167011557 0 0.878004107551654 FALSE 3.2486e-05 ENSE00000934494_014 ENSE00000934494 014 2 192265061 192265230 + 47 87 36 C T 192265144 3996 84 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGTGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400417 191400418 191400418 exon 37 0.425287356321839 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGTGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 59 361 1 1 1 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.00140171129748717 NA FALSE NA 1 3.577 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 rs372396188 1 deleterious(0.02) possibly_damaging(0.855) NA T:0 T:0.0001 GCG C,T 2.471e-05 2:191400418 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 6.898268 0.94817 0.90672 0.732398 0.998768963541545 0 0.878004107551654 FALSE 2.03041e-05 ENSE00000934494_015 ENSE00000934494 015 2 192265061 192265230 + 47 87 36 G A 192265145 3997 85 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCACTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400418 191400419 191400419 exon 38 0.436781609195402 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCACTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 200 158 1 1 1 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.00140171129748717 NA FALSE NA 1 6.414 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 1 tolerated(0.08) possibly_damaging(0.748) NA CGC G,A 1.647e-05 2:191400419 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 5.750368 0.95831 0.94459 0.732398 0.999444571560027 0 0.878004107551654 FALSE 2.43661e-05 ENSE00000934494_016 ENSE00000934494 016 2 192265061 192265230 + 47 87 36 G C 192265152 3998 92 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAACGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400425 191400426 191400426 exon -43 0.517241379310345 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAACGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 62 130 1 1 1 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.00140171129748717 NA FALSE NA 1 0.57 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 1 tolerated(0.57) benign(0) NA AGG G,C 8.236e-06 2:191400426 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 2.712442 0.91177 0.83802 0.732398 0.979973833044967 0 0.878004107551654 FALSE 4.06072e-06 ENSE00000934494_017 ENSE00000934494 017 2 192265061 192265230 + 47 87 36 G A 192265153 3999 93 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGAAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400426 191400427 191400427 exon -42 0.528735632183908 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGAAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 1471 1038 0.999691852145938 0.983625181579274 0.991658516862606 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000501492269872728 -0.0143810359496858 0.999787304627333 0.998598288702513 NA -0.00693977183990652 NA FALSE NA 1 7.589 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 1 tolerated(0.51) possibly_damaging(0.651) NA GGA G,A 8.236e-06 2:191400427 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 5.12196 0.97732 0.9724 0.732398 0.998233804897647 0 0.878004107551654 FALSE 4.06081e-06 ENSE00000934494_018 ENSE00000934494 018 2 192265061 192265230 + 47 87 36 C G 192265161 4000 101 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTGACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400434 191400435 191400435 exon -34 0.620689655172414 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTGACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 1504 925 0.997955911796806 0.999628856511105 0.998792384153956 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.00123444807925932 0.0016226389821451 0.999787304627333 0.998598288702513 NA 0.000194095451442888 NA FALSE NA 0.998 2.487 . synonymous_variant LOW MYO1B HGNC 7596 ENST00000392316 21/29 1 NA TCA C,G 1.647e-05 2:191400435 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 synonymous_variant 1.570101 0.93169 0.84888 0.732398 0.716035760824147 0 0.878004107551654 FALSE 1.62439e-05 ENSE00000934494_019 ENSE00000934494 019 2 192265061 192265230 + 47 87 36 A G 192265162 4001 102 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCGCGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400435 191400436 191400436 exon -33 0.632183908045977 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCGCGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 641 710 0.998081922370889 0.998320859220309 0.998201390795599 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.00110843750517653 0.000314641691349427 0.999787304627333 0.998598288702513 NA -0.000396897906913551 NA FALSE NA 1 8.906 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 rs374826734 1 tolerated(0.55) probably_damaging(0.98) NA G:0 G:0.0001 CAC A,G 8.236e-06 2:191400436 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 4.319484 0.96766 0.97515 0.732398 0.987421822614731 0 0.878004107551654 FALSE 4.06088e-06 ENSE00000934494_020 ENSE00000934494 020 2 192265061 192265230 + 47 87 36 C T 192265163 4002 103 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCATGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400436 191400437 191400437 exon -32 0.64367816091954 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCATGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 1023 883 0.998379669869324 1 0.999189834934662 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.000810690006741721 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.000591546232149187 NA FALSE NA 1 7.444 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 1 tolerated(0.26) probably_damaging(0.997) NA ACG C,T 1.647e-05 2:191400437 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 6.353502 0.97221 0.96606 0.732398 0.998943403090287 0 0.878004107551654 FALSE 2.03047e-05 ENSE00000934494_021 ENSE00000934494 021 2 192265061 192265230 + 47 87 36 G A 192265164 4003 104 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACAACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400437 191400438 191400438 exon -31 0.655172413793103 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACAACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 119 812 1 0.99971829601815 0.999859148009075 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.00171207848919053 0.999787304627333 0.998598288702513 NA 0.00126085930656239 NA FALSE NA 0.338 -0.265 . synonymous_variant LOW MYO1B HGNC 7596 ENST00000392316 21/29 1 NA CGA G,A 8.236e-06 2:191400438 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 synonymous_variant 2.003417 0.86218 0.25596 0.732398 0.716409555253524 0 0.878004107551654 FALSE 4.06095e-06 ENSE00000934494_022 ENSE00000934494 022 2 192265061 192265230 + 47 87 36 C T 192265167 4004 107 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACTATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400440 191400441 191400441 exon -28 0.689655172413793 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACTATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 227 304 0.999818566731828 1 0.999909283365914 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000628206855762037 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.00131099466340107 NA FALSE NA 1 0.759 . synonymous_variant LOW MYO1B HGNC 7596 ENST00000392316 21/29 1 NA CCA C,T 8.236e-06 2:191400441 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 synonymous_variant 2.073086 0.91293 0.77461 0.732398 0.560045532653642 0 0.878004107551654 FALSE 8.12176e-06 ENSE00000934494_023 ENSE00000934494 023 2 192265061 192265230 + 47 87 36 T C 192265177 4005 117 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCACATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400450 191400451 191400451 exon -18 0.804597701149425 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCACATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 667 67 0.997694507685544 1 0.998847253842772 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.00149585219052173 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.000248965140259183 NA FALSE NA 0.995 5.857 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 rs536319584 1 tolerated(0.14) possibly_damaging(0.837) NA ATA T,C 4.118e-05 2:191400451 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 3.888835 0.92201 0.93081 0.732398 0.972648008649665 0 0.878004107551654 FALSE 4.06095e-05 ENSE00000934494_025 ENSE00000934494 025 2 192265061 192265230 + 47 87 36 A G 192265184 4007 124 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCGTGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400457 191400458 191400458 exon -11 0.885057471264368 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCGTGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 57 221 1 1 1 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.00140171129748717 NA FALSE NA 1 4.304 rs115073525 missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 rs115073525 1 tolerated(0.63) possibly_damaging(0.772) G:0.0010 G:0.0023 G:0.0014 NA G:0 G:0.001 G:0 G:0.0027 G:0 CAT A,G 0.0001977 2:191400458 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 1.636845 0.90949 0.87719 0.732398 0.812685062159298 0 0.878004107551654 FALSE 0.000142137 ENSE00000934494_026 ENSE00000934494 026 2 192265061 192265230 + 47 87 36 T A 192265185 4008 125 GCTGACCCACCGCCTTCCTTGGGGTCTCGGGCCTACCTGGGTCCCTTGCCAATATGCAGCAATGGTCGTGACTGCTTCCTTACAGCGCTTTTGATGCTTCAGTTCCCGCAGAATTTTTCGAGCCTAAAGGGCAGAATCACCCAAAAGAGAGAATGTTTAAAAATAAAGGA 191400334 191400504 191400458 191400459 191400459 exon -10 0.896551724137931 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCAAGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 392 592 1 0.997651632639433 0.998825816319716 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 -0.00035458488952711 0.999787304627333 0.998598288702513 NA 0.000227527617203571 NA FALSE NA 0.015 -0.937 . missense_variant MODERATE MYO1B HGNC 7596 ENST00000392316 21/29 1 tolerated(0.15) possibly_damaging(0.772) NA ATG T,A 1.647e-05 2:191400459 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 missense_variant 1.576793 0.42639 0.19597 0.732398 0.924778026374394 0 0.878004107551654 FALSE 1.62443e-05 ENSE00000934494_027 ENSE00000934494 027 2 192265061 192265230 + 47 87 36 C T 192265202 4009 142 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCTGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400475 191400476 191400476 downstr_intron 8 1.22857142857143 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCTGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 173 295 1 0.937477187361737 0.968738593680868 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 -0.0605290301672232 0.999787304627333 0.998598288702513 NA -0.0298596950216445 NA FALSE NA 0.002 -0.451 . splice_region_variant&intron_variant LOW MYO1B HGNC 7596 ENST00000392316 21/28 rs373508633 1 NA T:0 T:0.0001 CCG C,T 3.295e-05 2:191400476 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 splice_region_variant 0.277572 0.15623 0.12853 0.099367 0.602169725175071 0.138915 0.878004107551654 FALSE 3.24899e-05 ENSE00000934494_028 ENSE00000934494 028 2 192265061 192265230 + 47 87 36 G A 192265203 4010 143 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCAAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400476 191400477 191400477 downstr_intron 9 1.25714285714286 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCAAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 445 381 1 0.992876864432858 0.996438432216429 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 -0.00512935309610141 0.999787304627333 0.998598288702513 NA -0.00215985648608358 NA FALSE NA 0 -0.007 . intron_variant MODIFIER MYO1B HGNC 7596 ENST00000392316 21/28 rs562351612 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGA G,A 0.00014 2:191400477 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 0.228372 0.21615 0.24945 0.099367 0.502733002782711 0.138915 0.878004107551654 FALSE 0.000105594 ENSE00000934494_029 ENSE00000934494 029 2 192265061 192265230 + 47 87 36 C A 192265208 4011 148 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACACCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 191400481 191400482 191400482 downstr_intron 14 1.4 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACACCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 1651 178 0.999875301897521 0.993311440646792 0.996593371272157 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000684942021455526 -0.00469477688216779 0.999787304627333 0.998598288702513 NA -0.00200491743035613 NA FALSE NA 0 -0.14 . intron_variant MODIFIER MYO1B HGNC 7596 ENST00000392316 21/28 1 NA CCC C,A 8.236e-06 2:191400482 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 0.33183 0.24877 0.42137 0.099367 0.470077815436872 0.09015 0.878004107551654 FALSE 4.06114e-06 ENSE00000934494_030 ENSE00000934494 030 2 192265061 192265230 + 47 87 36 G T 192265218 4012 158 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGTCGGTGGGTCAGC 191400334 191400504 191400491 191400492 191400492 downstr_intron 24 1.68571428571429 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGTCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 221 332 1 1 1 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.0019937824710401 0.999787304627333 0.998598288702513 NA 0.00140171129748717 NA FALSE NA 0 0.211 . intron_variant MODIFIER MYO1B HGNC 7596 ENST00000392316 21/28 1 NA GGC G,T 8.237e-06 2:191400492 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 0.079153 0.23541 0.21288 0.099367 0.336504900878169 0.09015 0.878004107551654 FALSE 1.62467e-05 ENSE00000934494_031 ENSE00000934494 031 2 192265061 192265230 + 47 87 36 G A 192265220 4013 160 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCAGTGGGTCAGC 191400334 191400504 191400493 191400494 191400494 downstr_intron 26 1.74285714285714 TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCAGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC mutant NA NA NA NA NA 26 2383 1 0.999103558477229 0.999551779238615 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA 0.000809640123934252 0.00109734094826952 0.999787304627333 0.998598288702513 NA 0.000953490536101886 NA FALSE NA 0 -1.525 . intron_variant MODIFIER MYO1B HGNC 7596 ENST00000392316 21/28 1 NA CGG G,A 8.236e-06 2:191400494 MYO1B HGNC Symbol protein_coding 180204 ENSG00000128641 ENSE00000934494 intron_variant 0.233296 0.18133 0.02655 0.099367 0.686430710789996 0.09015 0.878004107551654 FALSE 2.031e-05 ENSE00000934494_BRK ENSE00000934494 BRK 2 192265061 192265230 + 47 87 36 A,G; T,T NA NA NA TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTTTGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGCCAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC 191400334 191400504 NA NA NA NA NA NA TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTTTGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGCCAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC TCCTTTATTTTTAAACATTCTCTCTTTTGGGTGATTCTGCCCTTTAGGCTCGAAAAATTCTGCGGGAACTGAAGCATCAAAAGCGCTGTAAGGAAGCAGTCACGACCATTGCTGCATATTGGCATGGGACCCAGGTAGGCCCGAGACCCCAAGGAAGGCGGTGGGTCAGC control NA NA NA NA NA 58 893 0 0 0 0.999574609254666 1 0.999190359876066 0.99800621752896 NA NA -0.999190359876066 -0.99800621752896 0.999787304627333 0.998598288702513 NA -0.998598288702513 NA TRUE NA NA NA NA NA NA MYO1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1B NA NA NA ENSG00000128641 ENSE00000934494 NA NA NA NA NA NA NA 0.878004107551654 FALSE NA ENSE00000934611_000 ENSE00000934611 000 2 202323457 202323626 + 50 81 39 NA NA NA NA NA CTTATCCTGTAACTTATTTTTCACTTATATAATGCATTTCTGACTTCCAGGATTGCTTCTGCACTTCAAGAACACAAGTTGAATCACTCAGACCTGAAAAACAGTCTGAAACCAGTATCCATCAATACTTGGTAAGAAAATGGTTAGGCTGGATGCAGTGGTTCACACCT 201458733 201458903 NA NA NA NA NA NA CTTATCCTGTAACTTATTTTTCACTTATATAATGCATTTCTGACTTCCAGGATTGCTTCTGCACTTCAAGAACACAAGTTGAATCACTCAGACCTGAAAAACAGTCTGAAACCAGTATCCATCAATACTTGGTAAGAAAATGGTTAGGCTGGATGCAGTGGTTCACACCT CTTATCCTGTAACTTATTTTTCACTTATATAATGCATTTCTGACTTCCAGGATTGCTTCTGCACTTCAAGAACACAAGTTGAATCACTCAGACCTGAAAAACAGTCTGAAACCAGTATCCATCAATACTTGGTAAGAAAATGGTTAGGCTGGATGCAGTGGTTCACACCT natural NA NA NA NA NA 1339 1200 0.989319011551029 0.998041674891381 0.993680343221205 NA NA 0.989319011551029 0.998041674891381 NA NA 0 0 NA 0.993680343221205 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00000934611 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00000934611_BRK ENSE00000934611 BRK 2 202323457 202323626 + 50 81 39 A,G; T,T NA NA NA CTTATCCTGTAACTTATTTTTCACTTATATAATGCATTTCTGACTTCCTTGATTGCTTCTGCACTTCAAGAACACAAGTTGAATCACTCAGACCTGAAAAACAGTCTGAAACCAGTATCCATCAATACTTGCCAAGAAAATGGTTAGGCTGGATGCAGTGGTTCACACCT 201458733 201458903 NA NA NA NA NA NA CTTATCCTGTAACTTATTTTTCACTTATATAATGCATTTCTGACTTCCTTGATTGCTTCTGCACTTCAAGAACACAAGTTGAATCACTCAGACCTGAAAAACAGTCTGAAACCAGTATCCATCAATACTTGCCAAGAAAATGGTTAGGCTGGATGCAGTGGTTCACACCT CTTATCCTGTAACTTATTTTTCACTTATATAATGCATTTCTGACTTCCAGGATTGCTTCTGCACTTCAAGAACACAAGTTGAATCACTCAGACCTGAAAAACAGTCTGAAACCAGTATCCATCAATACTTGGTAAGAAAATGGTTAGGCTGGATGCAGTGGTTCACACCT control 87 17 0 0 0 NA NA NA NA NA NA NA 0.989319011551029 0.998041674891381 NA NA NA NA NA 0.993680343221205 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00000934611 NA NA NA NA NA NA NA NA NA NA ENSE00000935555_000 ENSE00000935555 000 4 121828591 121828760 - 38 84 48 NA NA NA NA NA GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 NA NA NA NA NA NA GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT natural NA NA NA NA NA 2912 3542 0.92513492112569 0.872434866409549 0.89878489376762 NA NA 0.92513492112569 0.872434866409549 NA NA 0 0 NA 0.89878489376762 NA 0 NA FALSE NA NA NA NA NA NA PRDM5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRDM5 NA NA NA ENSG00000138738 ENSE00003552770 NA NA NA NA NA NA NA 0.742419320671244 FALSE NA ENSE00000935555_004 ENSE00000935555 004 4 121828591 121828760 - 38 84 48 C G 121828642 1494 119 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACACGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907486 120907487 120907487 exon -14 0.845238095238095 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACACGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 896 51 0.999954060961826 1 0.999977030480913 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0748191398361363 0.127565133590451 NA 0.89878489376762 NA 0.101192136713293 NA FALSE NA 1 5.732 rs147410661 missense_variant MODERATE PRDM5 HGNC 9349 ENST00000428209 2/15 rs147410661 1 deleterious_low_confidence(0.01) benign(0.001) NA G:0 G:0.0001 CCT C,G 8.236e-06 4:120907487 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 missense_variant 4.720599 0.98877 0.94977 0.706298 0.977338635437767 0 0.742419320671244 FALSE 3.2495e-05 ENSE00000935555_006 ENSE00000935555 006 4 121828591 121828760 - 38 84 48 T C 121828645 1496 116 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTGCAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907489 120907490 120907490 exon -17 0.80952380952381 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTGCAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 1169 15 0.998027819246972 1 0.999013909623486 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0728928981212822 0.127565133590451 NA 0.89878489376762 NA 0.100229015855866 NA FALSE NA 1 1.251 . missense_variant MODERATE PRDM5 HGNC 9349 ENST00000428209 2/15 1 tolerated_low_confidence(0.1) benign(0.003) NA GTA T,C 1.647e-05 4:120907490 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 missense_variant 2.580056 0.97211 0.65363 0.706298 0.985019429662113 0 0.742419320671244 FALSE 8.12334e-06 ENSE00000935555_007 ENSE00000935555 007 4 121828591 121828760 - 38 84 48 T C 121828652 1497 109 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATGTGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907496 120907497 120907497 exon -24 0.726190476190476 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATGTGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 871 214 0.997464592634797 1 0.998732296317399 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0723296715091072 0.127565133590451 NA 0.89878489376762 NA 0.0999474025497789 NA FALSE NA 1 2.404 . missense_variant MODERATE PRDM5 HGNC 9349 ENST00000428209 2/15 COSM732822 1 tolerated(0.51) benign(0.006) NA ATA T,C 1.647e-05 4:120907497 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 missense_variant 0.067467 0.97099 0.75413 0.706298 0.930545893513135 0 0.742419320671244 FALSE 2.84338e-05 ENSE00000935555_008 ENSE00000935555 008 4 121828591 121828760 - 38 84 48 T C 121828666 1498 95 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGGCTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907510 120907511 120907511 exon -38 0.55952380952381 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGGCTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 1037 748 0.99608398596456 0.999284510987442 0.997684248476001 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0709490648388701 0.126849644577893 NA 0.89878489376762 NA 0.0988993547083813 NA FALSE NA 1 5.891 . missense_variant MODERATE PRDM5 HGNC 9349 ENST00000428209 2/15 1 deleterious_low_confidence(0.04) benign(0.143) NA GTC T,C 8.236e-06 4:120907511 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 missense_variant 4.311922 0.98725 0.93278 0.706298 0.995682103021325 0 0.742419320671244 FALSE 4.06174e-06 ENSE00000935555_009 ENSE00000935555 009 4 121828591 121828760 - 38 84 48 C G 121828678 1499 83 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGACAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907522 120907523 120907523 exon 35 0.416666666666667 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGACAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 2230 27 0.99671432835868 1 0.99835716417934 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0715794072329899 0.127565133590451 NA 0.89878489376762 NA 0.0995722704117202 NA FALSE NA 1 0.578 . missense_variant MODERATE PRDM5 HGNC 9349 ENST00000428209 2/15 rs563401372 1 deleterious_low_confidence(0) benign(0.077) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCT C,G 0.0002883 4:120907523 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 missense_variant 3.589202 0.94463 0.74531 0.706298 0.972713929694079 0 0.742419320671244 FALSE 0.000264043 ENSE00000935555_010 ENSE00000935555 010 4 121828591 121828760 - 38 84 48 T C 121828682 1500 79 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGGAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907526 120907527 120907527 exon 31 0.369047619047619 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGGAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 109 38 1 1 1 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0748650788743098 0.127565133590451 NA 0.89878489376762 NA 0.10121510623238 NA FALSE NA 1 5.891 . missense_variant MODERATE PRDM5 HGNC 9349 ENST00000428209 2/15 1 deleterious_low_confidence(0) probably_damaging(0.953) NA TTC T,C 8.236e-06 4:120907527 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 missense_variant 6.109485 0.98725 0.93278 0.706298 0.998964399004698 0 0.742419320671244 FALSE 4.0624e-06 ENSE00000935555_011 ENSE00000935555 011 4 121828591 121828760 - 38 84 48 T C 121828686 1501 75 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGGGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907530 120907531 120907531 exon 27 0.321428571428571 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGGGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 985 1541 0.997925499074949 0.986371731709915 0.992148615392432 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0727905779492589 0.113936865300366 NA 0.89878489376762 NA 0.0933637216248123 NA FALSE NA 0.914 -0.019 . synonymous_variant LOW PRDM5 HGNC 9349 ENST00000428209 2/15 1 NA CTC T,C 8.236e-06 4:120907531 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 synonymous_variant 0.315438 0.96372 0.55601 0.706298 0.719502530415035 0 0.742419320671244 FALSE 4.06233e-06 ENSE00000935555_012 ENSE00000935555 012 4 121828591 121828760 - 38 84 48 G C 121828695 1502 66 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCGTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907539 120907540 120907540 exon 18 0.214285714285714 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCGTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 59 43 1 1 1 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0748650788743098 0.127565133590451 NA 0.89878489376762 NA 0.10121510623238 NA FALSE NA 0 -4.703 . synonymous_variant LOW PRDM5 HGNC 9349 ENST00000428209 2/15 1 NA AGG G,C 8.236e-06 4:120907540 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 synonymous_variant 0.514227 0.26383 0.01321 0.706298 0.656771345130944 0 0.742419320671244 FALSE NA ENSE00000935555_015 ENSE00000935555 015 4 121828591 121828760 - 38 84 48 T C 121828718 1505 43 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTGCTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907562 120907563 120907563 upstr_intron -6 -0.104166666666667 GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTGCTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 862 5671 0.996065588036427 0.984391027778787 0.990228307907607 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0709306669107367 0.111956161369237 NA 0.89878489376762 NA 0.0914434141399869 NA FALSE NA 0 -1.3 . splice_region_variant&intron_variant LOW PRDM5 HGNC 9349 ENST00000428209 1/14 1 NA GTA T,C 8.236e-06 4:120907563 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 splice_region_variant 0.991995 0.15486 0.04194 0.053691 0.639231479585549 0.298968 0.742419320671244 FALSE 1.21901e-05 ENSE00000935555_017 ENSE00000935555 017 4 121828591 121828760 - 38 84 48 A G 121828731 1507 30 GTTGATTTATTGTACTAATCCTTGTTCAACATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT 120907435 120907605 120907575 120907576 120907576 upstr_intron -19 -0.375 GTTGATTTATTGTACTAATCCTTGTTCAACATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT GTTGATTTATTGTACTAATCCTTGTTCAATATAATCATTGCTACTCAGGGTGAAAAGTTCGGACCCTTTGCTGGAGAGAAGAGAATGCCTGAAGACTTGGATGAAAATATGGATTACAGGTTGATGTGGGAGGTGAGGATATGACTTATTTTAATGTTAAAAATATATTT mutant NA NA NA NA NA 12 56 1 1 1 NA NA 0.92513492112569 0.872434866409549 NA NA 0.0748650788743098 0.127565133590451 NA 0.89878489376762 NA 0.10121510623238 NA FALSE NA 0.014 2.841 . intron_variant MODIFIER PRDM5 HGNC 9349 ENST00000428209 1/14 1 NA TAT A,G 8.236e-06 4:120907576 PRDM5 HGNC Symbol protein_coding 237951 ENSG00000138738 ENSE00003552770 intron_variant 0.088635 0.46953 0.31871 0.053691 0.621491257502183 0.901619 0.742419320671244 FALSE 8.12704e-06 ENSE00000935675_000 ENSE00000935675 000 4 79516473 79516642 + 62 57 51 NA NA NA NA NA GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 NA NA NA NA NA NA GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT natural 20 14 0.998000656515046 0.996622185083289 0.997311420799167 2967 3578 0.984067969534977 0.905818344206302 0.94494315687064 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 0 0 0 0 0.997311420799167 0.94494315687064 0 0 0 FALSE FALSE NA NA NA NA NA ANXA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA3 NA NA NA ENSG00000138772 ENSE00000935675 NA NA NA NA NA NA NA 2.04254227340065e-09 FALSE NA ENSE00000935675_001 ENSE00000935675 001 4 79516473 79516642 + 62 57 51 C T 79516493 805 21 GTACTATGTGTTAGAATCTTTTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595338 78595339 78595339 upstr_intron -42 -0.661290322580645 GTACTATGTGTTAGAATCTTTTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 533 341 0.989762657679724 0.984173027523323 0.986967842601523 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.00569468814474661 0.0783546833170203 0.997311420799167 0.94494315687064 NA 0.0420246857308835 NA FALSE NA 0.001 0.489 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 rs202085239 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0002 TCT C,T 0.0001235 4:78595339 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.401956 0.51288 0.12303 0.078448 0.581034124881562 0.0463572 2.04254227340065e-09 FALSE 8.53652e-05 ENSE00000935675_002 ENSE00000935675 002 4 79516473 79516642 + 62 57 51 A G 79516495 806 23 GTACTATGTGTTAGAATCTTCTGTCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595340 78595341 78595341 upstr_intron -40 -0.629032258064516 GTACTATGTGTTAGAATCTTCTGTCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 56 14 0.999262791285645 1 0.999631395642822 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0151948217506679 0.0941816557936975 0.997311420799167 0.94494315687064 NA 0.0546882387721827 NA FALSE NA 0 -1.653 rs150363744 downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 rs150363744 1 G:0.0030 G:0.0098 G:0 NA G:0.002 G:0 G:0 G:0.0045 G:0 TAT G,G 0.0006671 4:78595341 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant -0.054714 0.05749 0.00055 0.085619 0.390837328722734 0.0463572 2.04254227340065e-09 FALSE 0.000516235 ENSE00000935675_003 ENSE00000935675 003 4 79516473 79516642 + 62 57 51 G A 79516504 807 32 GTACTATGTGTTAGAATCTTCTATCTTTAAAAGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595349 78595350 78595350 upstr_intron -31 -0.483870967741935 GTACTATGTGTTAGAATCTTCTATCTTTAAAAGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 494 251 1 1 1 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.0941816557936975 0.997311420799167 0.94494315687064 NA 0.0550568431293602 NA FALSE NA 0.002 0.172 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 rs543741912 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G,A 8.236e-06 4:78595350 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.978466 0.18605 0.10052 0.085619 0.704323862040728 0.0456277 2.04254227340065e-09 FALSE 8.12942e-06 ENSE00000935675_004 ENSE00000935675 004 4 79516473 79516642 + 62 57 51 G A 79516509 808 37 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGACCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595354 78595355 78595355 upstr_intron -26 -0.403225806451613 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGACCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 1176 345 0.999473898779344 0.994280693977028 0.996877296378186 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0154059292443673 0.0884623497707253 0.997311420799167 0.94494315687064 NA 0.0519341395075463 NA FALSE NA 0.001 0.397 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 rs201313982 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0041 A:0 GGC G,A 0.0003953 4:78595355 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.942842 0.20509 0.06847 0.085619 0.682882020425355 0.0456277 2.04254227340065e-09 FALSE 0.000235744 ENSE00000935675_005 ENSE00000935675 005 4 79516473 79516642 + 62 57 51 C T 79516511 809 39 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCTCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595356 78595357 78595357 upstr_intron -24 -0.370967741935484 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCTCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 1426 13 0.949709850070039 0.99701776878736 0.973363809428699 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.0343581194649385 0.0911994245810573 0.997311420799167 0.94494315687064 NA 0.0284206525580594 NA FALSE NA 0 0.089 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA CCC C,T 2.471e-05 4:78595357 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 1.031028 0.16591 0.04446 0.085619 0.692227897520927 0.0648037 2.04254227340065e-09 FALSE 2.03244e-05 ENSE00000935675_006 ENSE00000935675 006 4 79516473 79516642 + 62 57 51 T G 79516514 810 42 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTGGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595359 78595360 78595360 upstr_intron -21 -0.32258064516129 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTGGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 173 788 0.945956249562346 0.952692096297852 0.949324172930099 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.0381117199726309 0.0468737520915492 0.997311420799167 0.94494315687064 NA 0.00438101605945918 NA FALSE NA 0 0.521 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 rs374764867 1 NA C:0 C:0.0001 TTG T,G 1.647e-05 4:78595360 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.997597 0.1954 0.07602 0.085619 0.733976984362976 0.0648037 2.04254227340065e-09 FALSE 8.12896e-06 ENSE00000935675_008 ENSE00000935675 008 4 79516473 79516642 + 62 57 51 C T 79516520 812 48 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTTGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595365 78595366 78595366 upstr_intron -15 -0.225806451612903 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTTGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 497 314 0.989982799437683 0.999878708211163 0.994930753824423 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0059148299027062 0.0940603640048607 0.997311420799167 0.94494315687064 NA 0.0499875969537835 NA FALSE NA 0 -0.484 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 rs200735427 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 TCG C,T 7.413e-05 4:78595366 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.156329 0.1404 0.01373 0.085619 0.43645802633592 0.0648037 2.04254227340065e-09 FALSE 0.000113809 ENSE00000935675_009 ENSE00000935675 009 4 79516473 79516642 + 62 57 51 G A 79516521 813 49 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCATCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595366 78595367 78595367 upstr_intron -14 -0.209677419354839 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCATCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 153 594 1 0.999614659654686 0.999807329827343 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.0937963154483834 0.997311420799167 0.94494315687064 NA 0.0548641729567031 NA FALSE NA 0 -1.824 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 rs374602716 1 NA A:0 A:0.0001 CGT G,A 7.413e-05 4:78595367 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant -0.210147 0.08489 0.00492 0.065574 0.42206307841285 0.0648037 2.04254227340065e-09 FALSE 8.94229e-05 ENSE00000935675_010 ENSE00000935675 010 4 79516473 79516642 + 62 57 51 C T 79516524 814 52 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCTTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595369 78595370 78595370 upstr_intron -11 -0.161290322580645 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCTTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 269 204 1 0.998493470221058 0.999246735110529 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.092675126014756 0.997311420799167 0.94494315687064 NA 0.0543035782398895 NA FALSE NA 0 0.007 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA CCT C,T 8.236e-06 4:78595370 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.29887 0.10115 0.00617 0.065574 0.441564366914387 0.0648037 2.04254227340065e-09 FALSE NA ENSE00000935675_011 ENSE00000935675 011 4 79516473 79516642 + 62 57 51 T C 79516525 815 53 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCCCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595370 78595371 78595371 upstr_intron -10 -0.145161290322581 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCCCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 157 737 1 0.996889024084015 0.998444512042008 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.0910706798777127 0.997311420799167 0.94494315687064 NA 0.0535013551713678 NA FALSE NA 0 0.297 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA CTC T,C 1.647e-05 4:78595371 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.497226 0.22173 0.11019 0.065574 0.753144761489437 0.0738951 2.04254227340065e-09 FALSE 2.84525e-05 ENSE00000935675_012 ENSE00000935675 012 4 79516473 79516642 + 62 57 51 T C 79516528 816 56 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCCGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595373 78595374 78595374 upstr_intron -7 -0.0967741935483871 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCCGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 572 445 0.862271024778937 0.963488660145523 0.91287984246223 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.12179694475604 0.0576703159392206 0.997311420799167 0.94494315687064 NA -0.0320633144084095 NA FALSE NA 0 0.252 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA CTG T,C 4.118e-05 4:78595374 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 splice_region_variant 0.145827 0.26288 0.14049 0.065574 0.708146821431837 0.122334 2.04254227340065e-09 FALSE 2.43889e-05 ENSE00000935675_013 ENSE00000935675 013 4 79516473 79516642 + 62 57 51 T C 79516532 817 60 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTCAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595377 78595378 78595378 upstr_intron -3 -0.032258064516129 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTCAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 984 526 0.990980678020519 0.929993094045374 0.960486886032946 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0069127084855416 0.0241747498390714 0.997311420799167 0.94494315687064 NA 0.0155437291623065 NA FALSE NA 0.293 1.079 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA TTA T,C 8.236e-06 4:78595378 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 splice_region_variant 1.670054 0.96366 0.35756 0.065574 0.895478135573155 0.790825 2.04254227340065e-09 FALSE 4.06471e-06 ENSE00000935675_014 ENSE00000935675 014 4 79516473 79516642 + 62 57 51 C A 79516537 818 65 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGAAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595382 78595383 78595383 exon 3 0.0526315789473684 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGAAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 172 165 0.999107871568121 1 0.99955393578406 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0150399020331434 0.0941816557936975 0.997311420799167 0.94494315687064 NA 0.0546107789134205 NA FALSE NA 0.874 -0.665 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA GCA C,A 8.236e-06 4:78595383 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 splice_region_variant 1.994012 0.95467 0.41613 0.706298 0.825987950163028 0 2.04254227340065e-09 FALSE 8.13253e-06 ENSE00000935675_015 ENSE00000935675 015 4 79516473 79516642 + 62 57 51 A G 79516541 819 69 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAGGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595386 78595387 78595387 exon 7 0.12280701754386 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAGGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 133 1198 0.982356583795895 0.967672128748451 0.975014356272173 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.00171138573908203 0.0618537845421482 0.997311420799167 0.94494315687064 NA 0.0300711994015331 NA FALSE NA 1 2.02 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA AAG A,G 8.236e-06 4:78595387 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 missense_variant 5.917006 0.96165 0.93147 0.706298 0.997386411414969 0 2.04254227340065e-09 FALSE 4.06832e-06 ENSE00000935675_016 ENSE00000935675 016 4 79516473 79516642 + 62 57 51 G A 79516542 820 70 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAAAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595387 78595388 78595388 exon 8 0.140350877192982 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAAAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 348 589 0.954297748055878 0.949470907555869 0.951884327805873 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.0297702214790994 0.0436525633495666 0.997311420799167 0.94494315687064 NA 0.00694117093523361 NA FALSE NA 1 7.082 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA AGA G,A 8.236e-06 4:78595388 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 missense_variant 6.744462 0.98954 0.99126 0.706298 0.995655551226271 0 2.04254227340065e-09 FALSE 4.06838e-06 ENSE00000935675_018 ENSE00000935675 018 4 79516473 79516642 + 62 57 51 T C 79516546 822 74 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGACGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595391 78595392 78595392 exon 12 0.210526315789474 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGACGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 3498 494 0.997179791992034 0.944535013845439 0.970857402918737 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0131118224570568 0.0387166696391368 0.997311420799167 0.94494315687064 NA 0.0259142460480968 NA FALSE NA 0.998 0.293 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:78595392 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 synonymous_variant 0.30171 0.96069 0.83662 0.706298 0.616992621124897 0 2.04254227340065e-09 FALSE 4.08147e-06 ENSE00000935675_019 ENSE00000935675 019 4 79516473 79516642 + 62 57 51 T A 79516546 823 74 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGAAGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595391 78595392 78595392 exon 12 0.210526315789474 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGAAGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 206 243 1 1 1 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.0941816557936975 0.997311420799167 0.94494315687064 NA 0.0550568431293602 NA FALSE NA 0.998 0.293 NA NA NA ANXA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA3 NA NA NA ENSG00000138772 ENSE00000935675 missense_variant 2.769517 0.95849 0.79509 0.706298 0.991015550601057 0 2.04254227340065e-09 FALSE 1.63259e-05 ENSE00000935675_020 ENSE00000935675 020 4 79516473 79516642 + 62 57 51 G A 79516573 824 101 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTAGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595418 78595419 78595419 exon -19 0.684210526315789 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTAGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 496 223 0.99557614592219 0.991165419386717 0.993370782654454 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.011508176387213 0.0853470751804147 0.997311420799167 0.94494315687064 NA 0.0484276257838139 NA FALSE NA 1 2.185 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 COSM3365712 1 NA TGG G,A 8.236e-06 4:78595419 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 synonymous_variant 1.176542 0.96811 0.9003 0.706298 0.747364150404678 0 2.04254227340065e-09 FALSE 4.07428e-06 ENSE00000935675_022 ENSE00000935675 022 4 79516473 79516642 + 62 57 51 G T 79516592 826 120 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGTTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595437 78595438 78595438 downstr_intron 1 1.02 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGTTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 143 748 0.00556089775985316 0.00475136780553827 0.00515613278269572 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.978507071775124 -0.901066976400764 0.997311420799167 0.94494315687064 NA -0.939787024087944 NA TRUE NA 1 7.362 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA GGT G,T 1.647e-05 4:78595438 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 splice_donor_variant 5.250716 0.98992 0.99288 0.162113 0.995362567961455 0.983652 2.04254227340065e-09 FALSE 1.22295e-05 ENSE00000935675_023 ENSE00000935675 023 4 79516473 79516642 + 62 57 51 A G 79516599 827 127 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAGCAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595444 78595445 78595445 downstr_intron 8 1.16 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAGCAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 55 427 0.918558795354223 0.994657367660135 0.956608081507179 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.0655091741807542 0.0888390234538321 0.997311420799167 0.94494315687064 NA 0.011664924636539 NA FALSE NA 0.735 0.474 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA AAC A,G 1.647e-05 4:78595445 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 splice_region_variant 1.40042 0.78107 0.21973 0.078448 0.879519194146718 0.477747 2.04254227340065e-09 FALSE 4.08367e-06 ENSE00000935675_024 ENSE00000935675 024 4 79516473 79516642 + 62 57 51 C T 79516600 828 128 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAATAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595445 78595446 78595446 downstr_intron 9 1.18 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAATAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 1350 44 0.999191494198028 0.982745267232492 0.99096838071526 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0151235246630511 0.0769269230261898 0.997311420799167 0.94494315687064 NA 0.0460252238446204 NA FALSE NA 0.701 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:78595446 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 1.743901 0.22697 0.09598 0.078448 0.803907165414003 0.312861 2.04254227340065e-09 FALSE 1.63401e-05 ENSE00000935675_025 ENSE00000935675 025 4 79516473 79516642 + 62 57 51 C A 79516600 829 128 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAAAAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595445 78595446 78595446 downstr_intron 9 1.18 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAAAAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 10 523 1 1 1 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.0941816557936975 0.997311420799167 0.94494315687064 NA 0.0550568431293602 NA FALSE NA 0.701 0.016 NA NA NA ANXA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA3 NA NA NA ENSG00000138772 ENSE00000935675 intron_variant 1.820207 0.25061 0.47844 0.078448 0.797911468940513 0.312861 2.04254227340065e-09 FALSE 4.08503e-06 ENSE00000935675_026 ENSE00000935675 026 4 79516473 79516642 + 62 57 51 C T 79516605 830 133 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGTGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595450 78595451 78595451 downstr_intron 14 1.28 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGTGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 649 130 1 0.998781488135475 0.999390744067737 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.092963143929172 0.997311420799167 0.94494315687064 NA 0.0544475871970975 NA FALSE NA 0.052 0.043 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA GCG C,T 3.295e-05 4:78595451 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.127609 0.20284 0.00704 0.078448 0.591071480110517 0.158006 2.04254227340065e-09 FALSE 2.0445e-05 ENSE00000935675_027 ENSE00000935675 027 4 79516473 79516642 + 62 57 51 G A 79516606 831 134 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCAGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595451 78595452 78595452 downstr_intron 15 1.3 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCAGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 116 363 1 0.961783869623637 0.980891934811818 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.0559655254173345 0.997311420799167 0.94494315687064 NA 0.0359487779411787 NA FALSE NA 0.001 0.339 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:78595452 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant -0.160832 0.15303 0.00614 0.078448 0.411774559839736 0.158006 2.04254227340065e-09 FALSE 0.000134915 ENSE00000935675_028 ENSE00000935675 028 4 79516473 79516642 + 62 57 51 G T 79516606 832 134 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCTGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595451 78595452 78595452 downstr_intron 15 1.3 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCTGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 739 55 0.951184142358962 0.944341161302161 0.947762651830562 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.0328838271760148 0.0385228170958584 0.997311420799167 0.94494315687064 NA 0.00281949495992179 NA FALSE NA 0.001 0.339 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA3 NA NA NA ENSG00000138772 ENSE00000935675 intron_variant -0.344703 0.17644 0.08255 0.078448 0.531937567729494 0.158006 2.04254227340065e-09 FALSE 4.08834e-06 ENSE00000935675_029 ENSE00000935675 029 4 79516473 79516642 + 62 57 51 C T 79516613 833 141 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAATATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595458 78595459 78595459 downstr_intron 22 1.44 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAATATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 267 544 0.997978872070186 1 0.998989436035093 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.013910902535209 0.0941816557936975 0.997311420799167 0.94494315687064 NA 0.0540462791644533 NA FALSE NA 0 -0.604 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:78595459 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.49095 0.15369 0.00908 0.078448 0.713974918663211 0.158006 2.04254227340065e-09 FALSE 2.04198e-05 ENSE00000935675_030 ENSE00000935675 030 4 79516473 79516642 + 62 57 51 C A 79516613 834 141 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAAAATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 78595458 78595459 78595459 downstr_intron 22 1.44 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAAAATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 408 92 1 1 1 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0159320304650229 0.0941816557936975 0.997311420799167 0.94494315687064 NA 0.0550568431293602 NA FALSE NA 0 -0.604 NA NA NA ANXA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA3 NA NA NA ENSG00000138772 ENSE00000935675 intron_variant 0.57013 0.19494 0.04318 0.078448 0.734204802396577 0.158006 2.04254227340065e-09 FALSE NA ENSE00000935675_031 ENSE00000935675 031 4 79516473 79516642 + 62 57 51 A G 79516627 835 155 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTGTTCTCCTATGTGGCT 78595318 78595488 78595472 78595473 78595473 downstr_intron 36 1.72 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTGTTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 1182 1082 0.822283886959219 0.993635505025707 0.907959695992463 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA -0.161784082575758 0.0878171608194043 0.997311420799167 0.94494315687064 NA -0.0369834608781769 NA FALSE NA 0 -4.416 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA TAT A,G 1.647e-05 4:78595473 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant -0.376679 0.05631 0.00774 0.078448 0.369106683422138 0.0476178 2.04254227340065e-09 FALSE 8.19565e-06 ENSE00000935675_032 ENSE00000935675 032 4 79516473 79516642 + 62 57 51 C A 79516630 836 158 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTATCCTATGTGGCT 78595318 78595488 78595475 78595476 78595476 downstr_intron 39 1.78 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTATCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 386 2721 0.999465702254514 0.996193216990993 0.997829459622754 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.0153977327195368 0.0903748727846908 0.997311420799167 0.94494315687064 NA 0.0528863027521138 NA FALSE NA 0 0.093 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA TCT C,A 8.236e-06 4:78595476 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant 0.038333 0.17323 0.12401 0.078448 0.367623571948736 0.0476178 2.04254227340065e-09 FALSE 4.10405e-06 ENSE00000935675_033 ENSE00000935675 033 4 79516473 79516642 + 62 57 51 C T 79516632 837 160 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTTCTATGTGGCT 78595318 78595488 78595477 78595478 78595478 downstr_intron 41 1.82 GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTTCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT mutant NA NA NA NA NA 1777 383 0.993406960406903 0.999586845880846 0.996496903143875 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 NA NA 0.00933899087192602 0.0937685016745435 0.997311420799167 0.94494315687064 NA 0.0515537462732348 NA FALSE NA 0 -0.856 . downstream_gene_variant MODIFIER ANXA3 HGNC 541 ENST00000514171 1 NA TCC C,T 8.236e-06 4:78595478 ANXA3 HGNC Symbol protein_coding 58932 ENSG00000138772 ENSE00000935675 intron_variant -0.136909 0.16116 0.03037 0.078448 0.416947281167626 0.0476178 2.04254227340065e-09 FALSE 4.13295e-06 ENSE00000935675_BRK ENSE00000935675 BRK 4 79516473 79516642 + 62 57 51 A,G; T,T NA NA NA GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTTTGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGCCCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT 78595318 78595488 NA NA NA NA NA NA GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTTTGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGCCCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT GTACTATGTGTTAGAATCTTCTATCTTTAAAGGATGGCCCTTGTTTTCGTCCTCCTGTTTAGGGCAGAAGAGATGAAAGTCTGAAAGTGGATGAGCATCTGGCCAAACAAGATGCCCAGGTCAGTAACAAAGCGGGAAAACATTTCCTTTACCTATTCTCCTATGTGGCT control 263 303 0 0.0151031039076976 0.0075515519538488 NA NA NA NA NA 0.998000656515046 0.996622185083289 0.984067969534977 0.905818344206302 -0.998000656515046 -0.981519081175591 NA NA 0.997311420799167 0.94494315687064 -0.989759868845319 NA NA NA TRUE NA NA NA NA NA ANXA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA3 NA NA NA ENSG00000138772 ENSE00000935675 NA NA NA NA NA NA NA 2.04254227340065e-09 FALSE NA ENSE00000937024_000 ENSE00000937024 000 12 7355164 7355333 + 44 93 33 NA NA NA NA NA TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 NA NA NA NA NA NA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA natural 175 153 0.84686148668917 0.85 0.848430743344585 2703 3487 0.812563153288279 0.81172815873243 0.812145656010355 0.84686148668917 0.85 0.812563153288279 0.81172815873243 0 0 0 0 0.848430743344585 0.812145656010355 0 0 0 FALSE FALSE NA NA NA NA NA PEX5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEX5 NA NA NA ENSG00000139197 ENSE00000937024 NA NA NA NA NA NA NA 0.401174868136947 FALSE NA ENSE00000937024_002 ENSE00000937024 002 12 7355164 7355333 + 44 93 33 C T 7355185 513 22 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAATACCACTACCACCAACTTTCT 7202567 7202737 7202588 7202589 7202589 upstr_intron -23 -0.5 AGAAAGTTGGTGGTAGTGGTATTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 38 142 0.8 0.8 0.8 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA -0.0125631532882789 -0.0117281587324302 0.848430743344585 0.812145656010355 NA -0.0121456560103546 NA FALSE NA 0.016 -0.282 . intron_variant MODIFIER PEX5 HGNC 9719 ENST00000412720 8/15 1 NA ACT C,T 8.236e-06 12:7202589 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 intron_variant -0.40485 0.17659 0.01431 0.295142 0.595818283288175 0.169566 0.401174868136947 FALSE 8.12183e-06 ENSE00000937024_003 ENSE00000937024 003 12 7355164 7355333 + 44 93 33 A G 7355191 514 28 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGACGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202594 7202595 7202595 upstr_intron -17 -0.363636363636364 AGAAAGTTGGTGGTAGTGGTACTGACCGTCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant 37 65 0.85 0.85 0.85 NA NA NA NA NA 0.84686148668917 0.85 0.812563153288279 0.81172815873243 0.00313851331082948 0 NA NA 0.848430743344585 0.812145656010355 0.00156925665541474 NA NA NA FALSE 0 -0.28 . intron_variant MODIFIER PEX5 HGNC 9719 ENST00000412720 8/15 1 NA CAT A,G 1.647e-05 12:7202595 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 intron_variant -0.494151 0.1231 0.02539 0.295142 0.343934633757341 0.249251 0.401174868136947 FALSE 1.6243e-05 ENSE00000937024_004 ENSE00000937024 004 12 7355164 7355333 + 44 93 33 C T 7355203 515 40 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCAACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202606 7202607 7202607 upstr_intron -5 -0.0909090909090909 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTTGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 73 217 0.997894111196807 0.999270487450964 0.998582299323886 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA 0.185330957908528 0.187542328718534 0.848430743344585 0.812145656010355 NA 0.186436643313531 NA FALSE NA 1 1.743 . splice_region_variant&intron_variant LOW PEX5 HGNC 9719 ENST00000412720 8/15 rs377379933&COSM1606626&COSM1606625 1 T:0 T:0.0014 NA T:0 T:0 T:0.001 T:0.0005 T:0 TCG C,T 0.0001483 12:7202607 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 splice_region_variant 0.660379 0.98093 0.91691 0.295142 0.474717354649664 0.763415 0.401174868136947 FALSE 0.000146188 ENSE00000937024_005 ENSE00000937024 005 12 7355164 7355333 + 44 93 33 G A 7355204 516 41 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGTGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202607 7202608 7202608 upstr_intron -4 -0.0681818181818182 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCACAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 272 386 0.776879777049682 0.801308681993698 0.78909422952169 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA -0.0356833762385972 -0.0104194767387323 0.848430743344585 0.812145656010355 NA -0.0230514264886648 NA FALSE NA 0.997 0.172 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:7202608 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 splice_region_variant 0.050538 0.93521 0.26803 0.295142 0.304331801265823 0.304087 0.401174868136947 FALSE 0.000381713 ENSE00000937024_006 ENSE00000937024 006 12 7355164 7355333 + 44 93 33 G T 7355204 517 41 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGAGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202607 7202608 7202608 upstr_intron -4 -0.0681818181818182 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCTCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 506 677 0.000593208313813785 0.0829616588658641 0.0417774335898389 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA -0.811969944974465 -0.728766499866566 0.848430743344585 0.812145656010355 NA -0.770368222420516 NA TRUE NA 0.997 0.172 NA NA NA PEX5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEX5 NA NA NA ENSG00000139197 ENSE00000937024 splice_region_variant -0.079778 0.96584 0.89866 0.295142 0.337841121888486 0.304087 0.401174868136947 FALSE 4.06078e-06 ENSE00000937024_008 ENSE00000937024 008 12 7355164 7355333 + 44 93 33 G C 7355224 519 61 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCGAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202627 7202628 7202628 exon 17 0.182795698924731 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTCGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 180 268 0.964108276150643 0.991944479496298 0.978026377823471 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA 0.151545122862364 0.180216320763868 0.848430743344585 0.812145656010355 NA 0.165880721813116 NA FALSE NA 1 7.324 . missense_variant MODERATE PEX5 HGNC 9719 ENST00000412720 9/16 rs374588722 1 deleterious(0.01) probably_damaging(0.951) NA C:0 C:0.0001 TGG G,C 8.236e-06 12:7202628 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 missense_variant 6.533038 0.99319 0.99787 0.706548 0.989527618006405 0 0.401174868136947 FALSE 4.06065e-06 ENSE00000937024_014 ENSE00000937024 014 12 7355164 7355333 + 44 93 33 G A 7355265 525 102 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATTAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202668 7202669 7202669 exon -36 0.623655913978495 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTAATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 582 69 0.00155031880980941 0.179713627590165 0.0906319731999871 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA -0.81101283447847 -0.632014531142265 0.848430743344585 0.812145656010355 NA -0.721513682810368 NA TRUE NA 1 5.344 rs145496484 missense_variant MODERATE PEX5 HGNC 9719 ENST00000412720 9/16 rs145496484 1 tolerated(0.36) benign(0.24) A:0 A:0 NA A:0 A:0.002 A:0 TGA G,A 2.471e-05 12:7202669 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 missense_variant 2.28137 0.82188 0.96064 0.706548 0.996782264162698 0 0.401174868136947 FALSE 4.06055e-05 ENSE00000937024_017 ENSE00000937024 017 12 7355164 7355333 + 44 93 33 C T 7355280 528 117 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCATTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202683 7202684 7202684 exon -21 0.78494623655914 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAATGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 284 41 0.0332030152839966 0.0378372847478291 0.0355201500159129 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA -0.779360138004282 -0.773890873984601 0.848430743344585 0.812145656010355 NA -0.776625505994442 NA TRUE NA 1 2.206 . stop_gained HIGH PEX5 HGNC 9719 ENST00000412720 9/16 rs267608194&PEX5_00009&CM090650 1 NA HC ACG C,T 1.647e-05 12:7202684 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 stop_gained 11.541655 0.9705 0.96015 0.706548 0.997764590029888 0 0.401174868136947 FALSE 4.06072e-06 ENSE00000937024_019 ENSE00000937024 019 12 7355164 7355333 + 44 93 33 C T 7355285 530 122 TGGGGTGTCTGCTCCTGCACTATCTGCTCTCACCTCTATAGCTGACTTAGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202688 7202689 7202689 exon -16 0.838709677419355 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCTAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 640 400 0.000468883862125723 0.00206832714209759 0.00126860550211166 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA -0.812094269426153 -0.809659831590333 0.848430743344585 0.812145656010355 NA -0.810877050508243 NA TRUE NA 1 0.599 . synonymous_variant LOW PEX5 HGNC 9719 ENST00000412720 9/16 1 NA CCA C,T 1.647e-05 12:7202689 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 synonymous_variant 1.676557 0.96737 0.87936 0.706548 0.599250294164893 0 0.401174868136947 FALSE 2.03037e-05 ENSE00000937024_021 ENSE00000937024 021 12 7355164 7355333 + 44 93 33 T C 7355312 532 149 TGGGGTGTCTGCTCCTGCACTGTCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202715 7202716 7202716 downstr_intron 12 1.375 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGACAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 642 126 0.8428975025002 0.786311301085165 0.814604401792682 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA 0.0303343492119209 -0.0254168576472654 0.848430743344585 0.812145656010355 NA 0.00245874578232774 NA FALSE NA 0.015 0.793 . intron_variant MODIFIER PEX5 HGNC 9719 ENST00000412720 9/15 1 NA ATA T,C 8.236e-06 12:7202716 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 intron_variant 1.671993 0.19791 0.16116 0.099367 0.796260694155202 0.174291 0.401174868136947 FALSE 4.06111e-06 ENSE00000937024_022 ENSE00000937024 022 12 7355164 7355333 + 44 93 33 T A 7355315 533 152 TGGGGTGTCTGCTCCTGCTCTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202718 7202719 7202719 downstr_intron 15 1.46875 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGAGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 2874 174 0.798516121046683 0.790869016849273 0.794692568947978 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA -0.0140470322415964 -0.0208591418831575 0.848430743344585 0.812145656010355 NA -0.017453087062377 NA FALSE NA 0 -2.15 . intron_variant MODIFIER PEX5 HGNC 9719 ENST00000412720 9/15 1 NA GTG T,A 2.471e-05 12:7202719 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 intron_variant 2.128034 0.09665 0.04178 0.099367 0.800264738787392 0.124799 0.401174868136947 FALSE 1.21841e-05 ENSE00000937024_023 ENSE00000937024 023 12 7355164 7355333 + 44 93 33 G T 7355316 534 153 TGGGGTGTCTGCTCCTGAACTATCTGCTCTCACCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCCTGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 7202719 7202720 7202720 downstr_intron 16 1.5 AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTTCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA mutant NA NA NA NA NA 40 130 0.967849040856637 0.8 0.883924520428318 0.84686148668917 0.85 0.812563153288279 0.81172815873243 NA NA 0.155285887568358 -0.01172815873243 0.848430743344585 0.812145656010355 NA 0.0717788644179638 NA FALSE NA 0 0.226 . intron_variant MODIFIER PEX5 HGNC 9719 ENST00000412720 9/15 1 NA TGC G,T 8.237e-06 12:7202720 PEX5 HGNC Symbol protein_coding 29889 ENSG00000139197 ENSE00000937024 intron_variant 1.481643 0.19431 0.19845 0.099367 0.779928871656925 0.124799 0.401174868136947 FALSE 4.06171e-06 ENSE00000937024_BRK ENSE00000937024 BRK 12 7355164 7355333 + 44 93 33 A,G; T,T NA NA NA TGGGGTGTCTGCTCCTGCACTATCTGCTCTCGGCTCTATAGCTGACTTGGCTCGTTCAAACTCCATATCAAGGGCAGATGTGTTTACTGGTCTTGTGAACTGGTCAACCCAGGCATCTGATGTACCAAGCGACAAAAAAGGATGGTCAGTACCACTACCACCAACTTTCT 7202567 7202737 NA NA NA NA NA NA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCTTGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGCCGAGAGCAGATAGTGCAGGAGCAGACACCCCA AGAAAGTTGGTGGTAGTGGTACTGACCATCCTTTTTTGTCGCAGGGTACATCAGATGCCTGGGTTGACCAGTTCACAAGACCAGTAAACACATCTGCCCTTGATATGGAGTTTGAACGAGCCAAGTCAGCTATAGAGGTGAGAGCAGATAGTGCAGGAGCAGACACCCCA control 29 26 0 0 0 588 1905 0 0.000167873700685019 8.39368503425095e-05 0.84686148668917 0.85 0.812563153288279 0.81172815873243 -0.84686148668917 -0.85 -0.812563153288279 -0.811560285031745 0.848430743344585 0.812145656010355 -0.848430743344585 -0.812061719160012 0.0363690241845731 TRUE TRUE NA NA NA NA NA PEX5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEX5 NA NA NA ENSG00000139197 ENSE00000937024 NA NA NA NA NA NA NA 0.401174868136947 FALSE NA ENSE00000938793_000 ENSE00000938793 000 12 51678456 51678625 - 44 72 54 NA NA NA NA NA TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 NA NA NA NA NA NA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA natural 90 46 0.888823877085752 0.954138462011418 0.921481169548585 1790 1618 0.939478080017825 0.92257130948579 0.931024694751807 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 0 0 0 0 0.921481169548585 0.931024694751807 0 0 0 FALSE FALSE NA NA NA NA NA BIN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BIN2 NA NA NA ENSG00000110934 ENSE00003496396 NA NA NA NA NA NA NA 0.000209938130106231 FALSE NA ENSE00000938793_001 ENSE00000938793 001 12 51678456 51678625 - 44 72 54 A G 51678473 1587 153 TGTCAATCTAATGCCCAGTCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284688 51284689 51284689 downstr_intron 27 1.62790697674419 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGACTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 287 131 0.994570683677987 1 0.997285341838993 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0550926036601611 0.0774286905142103 0.921481169548585 0.931024694751807 NA 0.0662606470871857 NA FALSE NA 0 -1.755 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 12/12 1 NA AAT A,G 2.471e-05 12:51284689 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.189774 0.11585 0.00313 0.163922 0.66919575389734 0.0491223 0.000209938130106231 FALSE 1.22081e-05 ENSE00000938793_002 ENSE00000938793 002 12 51678456 51678625 - 44 72 54 C T 51678475 1588 151 TGTCAATCTAATGCCCAATTTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284690 51284691 51284691 downstr_intron 25 1.58139534883721 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAAATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 172 507 1 1 1 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0774286905142103 0.921481169548585 0.931024694751807 NA 0.0689753052481925 NA FALSE NA 0.016 0.694 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 12/12 rs376240258 1 NA T:0 T:0.0001 TCT C,T 8.236e-06 12:51284691 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.304379 0.14657 0.06492 0.163922 0.690847431340377 0.0491223 0.000209938130106231 FALSE 4.06928e-06 ENSE00000938793_003 ENSE00000938793 003 12 51678456 51678625 - 44 72 54 A G 51678477 1589 149 TGTCAATCTAATGCCCAATCTGTTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284692 51284693 51284693 downstr_intron 23 1.53488372093023 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAACAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 21 2217 1 0.999825539912549 0.999912769956274 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0772542304267588 0.921481169548585 0.931024694751807 NA 0.0688880752044667 NA FALSE NA 0.001 -0.022 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 12/12 rs367655945 1 NA G:0.0002 G:0 TAT A,G 8.236e-06 12:51284693 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.398321 0.05686 3e-04 0.163922 0.767440302909078 0.0491223 0.000209938130106231 FALSE 4.06736e-06 ENSE00000938793_004 ENSE00000938793 004 12 51678456 51678625 - 44 72 54 C A 51678480 1590 146 TGTCAATCTAATGCCCAATCTATTATCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284695 51284696 51284696 downstr_intron 20 1.46511627906977 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGATAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 133 541 1 0.997055663673204 0.998527831836602 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0744843541874146 0.921481169548585 0.931024694751807 NA 0.0675031370847946 NA FALSE NA 0.001 0.248 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 12/12 1 NA TCT C,A 8.236e-06 12:51284696 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.513539 0.18742 0.11407 0.322412 0.595119574736286 0.0745318 0.000209938130106231 FALSE NA ENSE00000938793_005 ENSE00000938793 005 12 51678456 51678625 - 44 72 54 T C 51678481 1591 145 TGTCAATCTAATGCCCAATCTATTCCCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284696 51284697 51284697 downstr_intron 19 1.44186046511628 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGGGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 22 654 1 0.820769457368453 0.910384728684227 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 -0.101801852117336 0.921481169548585 0.931024694751807 NA -0.0206399660675808 NA FALSE NA 0.001 0.24 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 12/12 1 NA CTC T,C 8.236e-06 12:51284697 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.294694 0.16545 0.02122 0.322412 0.73697606490718 0.101304 0.000209938130106231 FALSE 1.62665e-05 ENSE00000938793_006 ENSE00000938793 006 12 51678456 51678625 - 44 72 54 G T 51678484 1592 142 TGTCAATCTAATGCCCAATCTATTCTCTTTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284699 51284700 51284700 downstr_intron 16 1.37209302325581 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATAAAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 1402 1399 1 0.96358741249644 0.98179370624822 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0410161030106506 0.921481169548585 0.931024694751807 NA 0.0507690114964126 NA FALSE NA 0.001 0.613 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 12/12 1 NA TGT G,T 8.236e-06 12:51284700 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.308556 0.20624 0.07535 0.322412 0.645901616542129 0.101304 0.000209938130106231 FALSE 1.21934e-05 ENSE00000938793_007 ENSE00000938793 007 12 51678456 51678625 - 44 72 54 T A 51678489 1593 137 TGTCAATCTAATGCCCAATCTATTCTCTGTATAACTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284704 51284705 51284705 downstr_intron 11 1.25581395348837 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGTTATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 165 347 1 1 1 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0774286905142103 0.921481169548585 0.931024694751807 NA 0.0689753052481925 NA FALSE NA 0.005 -0.113 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 12/12 1 NA ATC T,A 8.236e-06 12:51284705 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 1.565252 0.15977 0.07828 0.322412 0.809427116667862 0.101304 0.000209938130106231 FALSE 4.06326e-06 ENSE00000938793_008 ENSE00000938793 008 12 51678456 51678625 - 44 72 54 T G 51678496 1594 130 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCGTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284711 51284712 51284712 downstr_intron 4 1.09302325581395 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTACGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant 112 116 0.900619061522617 0.968386548295755 0.934502804909186 230 291 0.998196856996182 0.996388939051179 0.99729289802368 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 0.011795184436865 0.0142480862843372 0.0587187769783564 0.0738176295653894 0.921481169548585 0.931024694751807 0.0130216353606011 0.0662682032718729 0.0532465679112718 FALSE FALSE 0.954 1.705 . splice_region_variant&intron_variant LOW BIN2 HGNC 1053 ENST00000267012 12/12 1 NA CTT T,G 8.236e-06 12:51284712 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 splice_region_variant 1.375954 0.97931 0.88652 0.322412 0.881152535730485 0.940293 0.000209938130106231 FALSE 4.06237e-06 ENSE00000938793_009 ENSE00000938793 009 12 51678456 51678625 - 44 72 54 G T 51678511 1595 115 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGTTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284726 51284727 51284727 exon -12 0.847222222222222 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAAACTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 455 163 1 0.925414216122429 0.962707108061214 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.00284290663663911 0.921481169548585 0.931024694751807 NA 0.0316824133094069 NA FALSE NA 0.997 2.353 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 1 deleterious_low_confidence(0.01) possibly_damaging(0.588) NA GGT G,T 8.236e-06 12:51284727 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant 5.176744 0.97818 0.87238 0.732398 0.972889210029786 0 0.000209938130106231 FALSE 4.06147e-06 ENSE00000938793_010 ENSE00000938793 010 12 51678456 51678625 - 44 72 54 T A 51678513 1596 113 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTACAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284728 51284729 51284729 exon -14 0.819444444444444 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGTACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 226 345 0.998902279420241 1 0.99945113971012 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0594241994024153 0.0774286905142103 0.921481169548585 0.931024694751807 NA 0.0684264449583128 NA FALSE NA 0.821 0.59 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 rs552960490 1 deleterious_low_confidence(0) benign(0.017) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TTC T,A 0.0001977 12:51284729 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant 4.432663 0.97374 0.67655 0.732398 0.975319847910573 0 0.000209938130106231 FALSE 0.000174638 ENSE00000938793_011 ENSE00000938793 011 12 51678456 51678625 - 44 72 54 A G 51678515 1597 111 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCGGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284730 51284731 51284731 exon -16 0.791666666666667 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCCGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 834 183 0.997657454158914 1 0.998828727079457 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.058179374141089 0.0774286905142103 0.921481169548585 0.931024694751807 NA 0.0678040323276496 NA FALSE NA 0.057 -0.256 rs141365457 synonymous_variant LOW BIN2 HGNC 1053 ENST00000267012 12/13 rs141365457 1 NA G:0 G:0.0001 CAG A,G 3.295e-05 12:51284731 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant 0.217365 0.24542 0.02186 0.732398 0.644828503573126 0 0.000209938130106231 FALSE 2.43681e-05 ENSE00000938793_012 ENSE00000938793 012 12 51678456 51678625 - 44 72 54 T A 51678523 1598 103 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGAGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284738 51284739 51284739 exon -24 0.680555555555556 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCTCAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 458 53 0.993921711290107 1 0.996960855645053 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0544436312722812 0.0774286905142103 0.921481169548585 0.931024694751807 NA 0.0659361608932458 NA FALSE NA 0.008 0.225 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 1 deleterious_low_confidence(0.03) benign(0.08) NA GTG T,A 8.236e-06 12:51284739 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant 2.219622 0.22301 0.04768 0.732398 0.912134631898475 0 0.000209938130106231 FALSE NA ENSE00000938793_013 ENSE00000938793 013 12 51678456 51678625 - 44 72 54 T G 51678529 1599 97 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTGGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284744 51284745 51284745 exon -30 0.597222222222222 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACCACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 246 332 1 0.999424788431339 0.99971239421567 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0768534789455495 0.921481169548585 0.931024694751807 NA 0.0686876994638621 NA FALSE NA 0 0.249 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 1 deleterious_low_confidence(0) possibly_damaging(0.646) NA TTG T,G 8.236e-06 12:51284745 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant 2.881792 0.18495 0.06776 0.732398 0.992948882599485 0 0.000209938130106231 FALSE 8.1217e-06 ENSE00000938793_014 ENSE00000938793 014 12 51678456 51678625 - 44 72 54 T C 51678531 1600 95 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGCTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284746 51284747 51284747 exon -32 0.569444444444444 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAGCAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 313 100 0.987022207727027 0.997290733759527 0.992156470743277 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0475441277092014 0.074719424273737 0.921481169548585 0.931024694751807 NA 0.0611317759914692 NA FALSE NA 0.001 -0.003 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 1 tolerated_low_confidence(1) benign(0.002) NA GTT T,C 8.236e-06 12:51284747 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant -3.207229 0.12895 0.00329 0.732398 0.171892823167213 0 0.000209938130106231 FALSE 4.06085e-06 ENSE00000938793_015 ENSE00000938793 015 12 51678456 51678625 - 44 72 54 T C 51678535 1601 91 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTCTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284750 51284751 51284751 exon -36 0.513888888888889 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAGACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 15 930 0.8 0.986072821450878 0.893036410725439 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA -0.139478080017825 0.0635015119650886 0.921481169548585 0.931024694751807 NA -0.0379882840263684 NA FALSE NA 0.23 0.99 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 1 tolerated_low_confidence(0.12) benign(0) NA TTT T,C 8.236e-06 12:51284751 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant -0.913301 0.10804 0.00148 0.732398 0.432921501136814 0 0.000209938130106231 FALSE 4.06088e-06 ENSE00000938793_016 ENSE00000938793 016 12 51678456 51678625 - 44 72 54 T C 51678547 1602 79 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCACGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284762 51284763 51284763 exon 25 0.347222222222222 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCGTGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 12 719 1 0.998450098450617 0.999225049225309 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0758787889648276 0.921481169548585 0.931024694751807 NA 0.0682003544735011 NA FALSE NA 0 -0.187 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 1 tolerated_low_confidence(0.42) benign(0) NA ATG T,C 8.236e-06 12:51284763 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant -2.819141 0.09241 0.00087 0.732398 0.213186115593358 0 0.000209938130106231 FALSE 4.06111e-06 ENSE00000938793_017 ENSE00000938793 017 12 51678456 51678625 - 44 72 54 C T 51678553 1603 73 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGATTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284768 51284769 51284769 exon 19 0.263888888888889 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAATCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 2172 137 0.999165997416427 0.99089660089412 0.995031299155273 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0596879173986015 0.06832529140833 0.921481169548585 0.931024694751807 NA 0.0640066044034657 NA FALSE NA 0.004 1.715 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 1 deleterious_low_confidence(0.02) benign(0.218) NA ACT C,T 8.236e-06 12:51284769 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant 2.469565 0.23445 0.07089 0.732398 0.294190143273895 0 0.000209938130106231 FALSE 8.12236e-06 ENSE00000938793_018 ENSE00000938793 018 12 51678456 51678625 - 44 72 54 T A 51678564 1604 62 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGACTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284779 51284780 51284780 exon 8 0.111111111111111 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGTCCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 968 553 0.999659392434881 0.95684068553585 0.978250038985366 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0601813124170557 0.0342693760500604 0.921481169548585 0.931024694751807 NA 0.0472253442335581 NA FALSE NA 0 -0.755 . missense_variant MODERATE BIN2 HGNC 1053 ENST00000267012 12/13 1 deleterious_low_confidence(0.01) benign(0.081) NA GTC T,A 0.0001153 12:51284780 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 missense_variant 1.121366 0.14993 0.01995 0.732398 0.611722594034574 0 0.000209938130106231 FALSE 6.49778e-05 ENSE00000938793_021 ENSE00000938793 021 12 51678456 51678625 - 44 72 54 A G 51678583 1607 43 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAGGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284798 51284799 51284799 upstr_intron -12 -0.203703703703704 GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCCTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 685 133 1 0.986398522358481 0.99319926117924 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.063827212872691 0.921481169548585 0.931024694751807 NA 0.0621745664274328 NA FALSE NA 0.991 3.544 rs190671339 intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 11/12 rs190671339 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAG A,G 8.236e-06 12:51284799 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 1.284596 0.97601 0.94315 0.106106 0.822175509976839 0.916675 0.000209938130106231 FALSE 4.06151e-06 ENSE00000938793_023 ENSE00000938793 023 12 51678456 51678625 - 44 72 54 G T 51678595 1609 31 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCATTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284810 51284811 51284811 upstr_intron -24 -0.425925925925926 GAGAGGCTGGAAAGGTTGAGCCACCTCTTAATGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 1356 1126 1 0.991191473909111 0.995595736954555 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0686201644233212 0.921481169548585 0.931024694751807 NA 0.0645710422027479 NA FALSE NA 0.027 -0.075 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 11/12 1 NA AGT G,T 8.236e-06 12:51284811 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.036048 0.18058 0.05899 0.106106 0.549456279179387 0.109284 0.000209938130106231 FALSE 4.0625e-06 ENSE00000938793_025 ENSE00000938793 025 12 51678456 51678625 - 44 72 54 G T 51678604 1611 22 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTTGCTCAACCTTTCCAGCCTCTC 51284671 51284841 51284819 51284820 51284820 upstr_intron -33 -0.592592592592593 GAGAGGCTGGAAAGGTTGAGCAACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 446 121 0.993551556127521 1 0.996775778063761 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.054073476109696 0.0774286905142103 0.921481169548585 0.931024694751807 NA 0.0657510833119532 NA FALSE NA 0.317 0.761 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 11/12 rs368044843 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0011 T:0 TGG G,T 4.942e-05 12:51284820 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant -0.136152 0.18543 0.164 0.099367 0.487466594784007 0.109284 0.000209938130106231 FALSE 7.31481e-05 ENSE00000938793_027 ENSE00000938793 027 12 51678456 51678625 - 44 72 54 A C 51678610 1613 16 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCACCCTTTCCAGCCTCTC 51284671 51284841 51284825 51284826 51284826 upstr_intron -39 -0.703703703703704 GAGAGGCTGGAAAGGGTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 1928 534 0.983329419772802 0.999703719901368 0.991516569837085 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0438513397549765 0.0771324104155782 0.921481169548585 0.931024694751807 NA 0.0604918750852773 NA FALSE NA 0.001 -0.459 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 11/12 1 NA AAC A,C 1.647e-05 12:51284826 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.195372 0.11175 0.03116 0.099367 0.713720731369897 0.109284 0.000209938130106231 FALSE 4.47184e-05 ENSE00000938793_028 ENSE00000938793 028 12 51678456 51678625 - 44 72 54 C T 51678611 1614 15 TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTACCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCCTACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAATCTTTCCAGCCTCTC 51284671 51284841 51284826 51284827 51284827 upstr_intron -40 -0.722222222222222 GAGAGGCTGGAAAGATTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA mutant NA NA NA NA NA 11 212 1 1 1 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 NA NA 0.0605219199821746 0.0774286905142103 0.921481169548585 0.931024694751807 NA 0.0689753052481925 NA FALSE NA 0 0.27 . intron_variant MODIFIER BIN2 HGNC 1053 ENST00000267012 11/12 1 NA ACC C,T 8.236e-06 12:51284827 BIN2 HGNC Symbol protein_coding 43630 ENSG00000110934 ENSE00003496396 intron_variant 0.307479 0.16363 0.03441 0.099367 0.561300182938872 0.109284 0.000209938130106231 FALSE 4.06626e-06 ENSE00000938793_BRK ENSE00000938793 BRK 12 51678456 51678625 - 44 72 54 A,G; T,T NA NA NA TGTCAATCTAATGCCCAATCTATTCTCTGTATATCTGGTCTTGGCTCTTCTTGAGGTTCAGGTGCTGTGAGGTTGTTGTTTTCTGGTACCATGGAGACTTGAAGCTGGTCTTGGCCAAACAAAGAGAAGAGTTCTGCCAGTAAGAGGTGGCTCAACCTTTCCAGCCTCTC 51284671 51284841 NA NA NA NA NA NA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTTTGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGCCAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA GAGAGGCTGGAAAGGTTGAGCCACCTCTTACTGGCAGAACTCTTCTCTTTGTAGGGCCAAGACCAGCTTCAAGTCTCCATGGTACCAGAAAACAACAACCTCACAGCACCTGAACCTCAAGAAGAGGTAAGACCAGATATACAGAGAATAGATTGGGCATTAGATTGACA control 295 83 0.0221345612660849 0 0.0110672806330424 NA NA NA NA NA 0.888823877085752 0.954138462011418 0.939478080017825 0.92257130948579 -0.866689315819667 -0.954138462011418 NA NA 0.921481169548585 0.931024694751807 -0.910413888915542 NA NA NA TRUE NA NA NA NA NA BIN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BIN2 NA NA NA ENSG00000110934 ENSE00003496396 NA NA NA NA NA NA NA 0.000209938130106231 FALSE NA ENSE00000939335_000 ENSE00000939335 000 12 54894273 54894442 + 44 93 33 NA NA NA NA NA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 NA NA NA NA NA NA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA natural NA NA NA NA NA 614 1589 0.999057851324456 0.989486881877876 0.994272366601166 NA NA 0.999057851324456 0.989486881877876 NA NA 0 0 NA 0.994272366601166 NA 0 NA FALSE NA NA NA NA NA NA NCKAP1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCKAP1L NA NA NA ENSG00000123338 ENSE00000939335 NA NA NA NA NA NA NA 0.990439663587777 TRUE NA ENSE00000939335_001 ENSE00000939335 001 12 54894273 54894442 + 44 93 33 C T 54894310 1917 38 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTTTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500525 54500526 54500526 upstr_intron -7 -0.136363636363636 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTTTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 143 32 1 1 1 NA NA 0.999057851324456 0.989486881877876 NA NA 0.000942148675543875 0.0105131181221242 NA 0.994272366601166 NA 0.00572763339883403 NA FALSE NA 0.001 -0.017 . splice_region_variant&intron_variant&NMD_transcript_variant LOW NCKAP1L HGNC 4862 ENST00000548221 2/30 1 NA TCT C,T 8.237e-06 12:54500526 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 splice_region_variant 1.475222 0.19841 0.01678 0.256391 0.863880191824037 0.323686 0.990439663587777 TRUE 1.62718e-05 ENSE00000939335_005 ENSE00000939335 005 12 54894273 54894442 + 44 93 33 A C 54894334 1921 62 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTCCATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500549 54500550 54500550 exon 18 0.193548387096774 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTCCATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 378 304 0.957774033757814 1 0.978887016878907 NA NA 0.999057851324456 0.989486881877876 NA NA -0.0412838175666426 0.0105131181221242 NA 0.994272366601166 NA -0.0153853497222592 NA FALSE NA 0.003 -0.475 . synonymous_variant&NMD_transcript_variant LOW NCKAP1L HGNC 4862 ENST00000548221 3/31 rs201172877 1 C:0.0000 C:0 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 TAC A,C 4.942e-05 12:54500550 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 synonymous_variant -0.215491 0.55108 0.05053 0.660085 0.692337699646368 0 0.990439663587777 TRUE 3.24907e-05 ENSE00000939335_009 ENSE00000939335 009 12 54894273 54894442 + 44 93 33 G C 54894339 1925 67 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCCTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500554 54500555 54500555 exon 23 0.247311827956989 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCCTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 29 25 0.925634815892374 0.95 0.937817407946187 NA NA 0.999057851324456 0.989486881877876 NA NA -0.0734230354320826 -0.0394868818778759 NA 0.994272366601166 NA -0.0564549586549792 NA FALSE NA 0.9 2.38 NA NA NA NCKAP1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:54500555 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 missense_variant 3.172503 0.96463 0.89025 0.660085 0.996613472552565 0 0.990439663587777 TRUE NA ENSE00000939335_011 ENSE00000939335 011 12 54894273 54894442 + 44 93 33 C T 54894365 1927 93 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCTTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500580 54500581 54500581 exon -45 0.526881720430108 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCTTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 1169 544 0.963947524809021 0.99636910913273 0.980158316970875 NA NA 0.999057851324456 0.989486881877876 NA NA -0.0351103265154354 0.00688222725485421 NA 0.994272366601166 NA -0.0141140496302906 NA FALSE NA 0.178 1.322 . missense_variant&NMD_transcript_variant MODERATE NCKAP1L HGNC 4862 ENST00000548221 3/31 COSM3462820 1 deleterious(0) benign(0.412) NA CCT C,T 8.236e-06 12:54500581 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 missense_variant 4.349056 0.9794 0.43337 0.660085 0.998916814207562 0 0.990439663587777 TRUE 8.12209e-06 ENSE00000939335_012 ENSE00000939335 012 12 54894273 54894442 + 44 93 33 C T 54894367 1928 95 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTTACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500582 54500583 54500583 exon -43 0.548387096774194 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTTACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 20 232 0.95 0.95 0.95 NA NA 0.999057851324456 0.989486881877876 NA NA -0.0490578513244561 -0.0394868818778757 NA 0.994272366601166 NA -0.0442723666011659 NA FALSE NA 0.003 0.104 . synonymous_variant&NMD_transcript_variant LOW NCKAP1L HGNC 4862 ENST00000548221 3/31 1 NA TCA C,T 0.0004201 12:54500583 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 synonymous_variant 1.390853 0.96924 0.1967 0.660085 0.882555731835111 0 0.990439663587777 TRUE 0.000247722 ENSE00000939335_013 ENSE00000939335 013 12 54894273 54894442 + 44 93 33 A G 54894368 1929 96 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCGCCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500583 54500584 54500584 exon -42 0.559139784946237 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCGCCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 96 97 1 1 1 NA NA 0.999057851324456 0.989486881877876 NA NA 0.000942148675543875 0.0105131181221242 NA 0.994272366601166 NA 0.00572763339883403 NA FALSE NA 0.001 1.055 rs138929420 missense_variant&NMD_transcript_variant MODERATE NCKAP1L HGNC 4862 ENST00000548221 3/31 1 tolerated(0.2) benign(0.001) NA CAC A,G 8.236e-06 12:54500584 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 missense_variant 1.804425 0.97415 0.16296 0.660085 0.949697622518885 0 0.990439663587777 TRUE 1.62451e-05 ENSE00000939335_014 ENSE00000939335 014 12 54894273 54894442 + 44 93 33 A G 54894375 1930 103 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTGCTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500590 54500591 54500591 exon -35 0.634408602150538 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTGCTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 127 109 1 1 1 NA NA 0.999057851324456 0.989486881877876 NA NA 0.000942148675543875 0.0105131181221242 NA 0.994272366601166 NA 0.00572763339883403 NA FALSE NA 1 4.366 . missense_variant&NMD_transcript_variant MODERATE NCKAP1L HGNC 4862 ENST00000548221 3/31 rs374871721 1 deleterious(0.02) possibly_damaging(0.86) NA G:0.0005 G:0 TAC A,G 2.471e-05 12:54500591 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 missense_variant 5.620249 0.99035 0.98004 0.660085 0.998312255109434 0 0.990439663587777 TRUE 8.12255e-06 ENSE00000939335_016 ENSE00000939335 016 12 54894273 54894442 + 44 93 33 G A 54894410 1932 138 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGATGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500625 54500626 54500626 downstr_intron 1 1.03125 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGATGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 125 18 0 0.038061065626199 0.0190305328130995 NA NA 0.999057851324456 0.989486881877876 NA NA -0.999057851324456 -0.951425816251677 NA 0.994272366601166 NA -0.975241833788067 NA TRUE NA 1 9.135 NA NA NA NCKAP1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:54500626 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 splice_donor_variant 5.425963 0.99341 0.99333 0.256391 0.995456070068769 0.983019 0.990439663587777 TRUE 4.0619e-06 ENSE00000939335_018 ENSE00000939335 018 12 54894273 54894442 + 44 93 33 C T 54894415 1934 143 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGTTCTCTTGAGCCGTTTCCAATGTAGGCA 54500488 54500658 54500630 54500631 54500631 downstr_intron 6 1.1875 CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGTTCTCTTGAGCCGTTTCCAATGTAGGCA CTTATTTTGCACTTTTTTATTGTTTTGTTTTGTGTTTCTCTCAGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATTAGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGTGAGCTCTCTTGAGCCGTTTCCAATGTAGGCA mutant NA NA NA NA NA 563 86 1 1 1 NA NA 0.999057851324456 0.989486881877876 NA NA 0.000942148675543875 0.0105131181221242 NA 0.994272366601166 NA 0.00572763339883403 NA FALSE NA 0.003 -0.749 . splice_region_variant&intron_variant&NMD_transcript_variant LOW NCKAP1L HGNC 4862 ENST00000548221 3/30 1 NA GCT C,T 8.236e-06 12:54500631 NCKAP1L HGNC Symbol protein_coding 50527 ENSG00000123338 ENSE00000939335 splice_region_variant 0.352757 0.25409 0.01671 0.079558 0.685629296562641 0.38069 0.990439663587777 TRUE 4.06319e-06 ENSE00000939452_000 ENSE00000939452 000 12 56527325 56527494 + 47 87 36 NA NA NA NA NA CTCCCCTGCCAGCTTCCTATTTCCCATGTGGCTTACCTGCTCCAGTTTCTCTGCATCTGACAAAAGTGACAGCCATTCTAGCCTCAAGTGAACTTGGCCTTGCCCACCTTGTAGAGGGAACCACTAGAAGAAATTGAGATGTAGTAGAGATCAGATACCTGCTCAACTAC 56133540 56133710 NA NA NA NA NA NA GTAGTTGAGCAGGTATCTGATCTCTACTACATCTCAATTTCTTCTAGTGGTTCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTAAGCCACATGGGAAATAGGAAGCTGGCAGGGGAG GTAGTTGAGCAGGTATCTGATCTCTACTACATCTCAATTTCTTCTAGTGGTTCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTAAGCCACATGGGAAATAGGAAGCTGGCAGGGGAG natural 913 1533 0.845182157829463 0.85 0.847591078914731 1180 1495 0.891613791779863 0.934545510892704 0.913079651336283 0.845182157829463 0.85 0.891613791779863 0.934545510892704 0 0 0 0 0.847591078914731 0.913079651336283 0 0 0 FALSE FALSE NA NA NA NA NA ESYT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ESYT1 NA NA NA ENSG00000139641 ENSE00000939452 NA NA NA NA NA NA NA 2.14071709405869e-07 FALSE NA ENSE00000939452_008 ENSE00000939452 008 12 56527325 56527494 + 47 87 36 A G 56527383 2005 59 CTCCCCTGCCAGCTTCCTATTTCCCATGTGGCTTACCTGCTCCAGTTTCTCTGCATCTGACAAAAGTGACAGCCATTCTAGCCTCAAGTGAACTTGGCCTTGCCCACCTTGCAGAGGGAACCACTAGAAGAAATTGAGATGTAGTAGAGATCAGATACCTGCTCAACTAC 56133540 56133710 56133598 56133599 56133599 exon 12 0.137931034482759 GTAGTTGAGCAGGTATCTGATCTCTACTACATCTCAATTTCTTCTAGTGGTTCCCTCTGCAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTAAGCCACATGGGAAATAGGAAGCTGGCAGGGGAG GTAGTTGAGCAGGTATCTGATCTCTACTACATCTCAATTTCTTCTAGTGGTTCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTAAGCCACATGGGAAATAGGAAGCTGGCAGGGGAG mutant 15 32 0.85 0.85 0.85 NA NA NA NA NA 0.845182157829463 0.85 0.891613791779863 0.934545510892704 0.00481784217053727 0 NA NA 0.847591078914731 0.913079651336283 0.00240892108526863 NA NA NA FALSE 0.313 -0.09 . synonymous_variant LOW ESYT1 HGNC 29534 ENST00000267113 12/31 1 NA TAC A,G 8.236e-06 12:56133599 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939452 synonymous_variant 0.822014 0.79457 0.37523 0.706548 0.759693510381072 0 2.14071709405869e-07 FALSE 4.06055e-06 ENSE00000939452_009 ENSE00000939452 009 12 56527325 56527494 + 47 87 36 G A 56527387 2006 63 CTCCCCTGCCAGCTTCCTATTTCCCATGTGGCTTACCTGCTCCAGTTTCTCTGCATCTGACAAAAGTGACAGCCATTCTAGCCTCAAGTGAACTTGGCCTTGCCCACTTTGTAGAGGGAACCACTAGAAGAAATTGAGATGTAGTAGAGATCAGATACCTGCTCAACTAC 56133540 56133710 56133602 56133603 56133603 exon 16 0.183908045977011 GTAGTTGAGCAGGTATCTGATCTCTACTACATCTCAATTTCTTCTAGTGGTTCCCTCTACAAAGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTAAGCCACATGGGAAATAGGAAGCTGGCAGGGGAG GTAGTTGAGCAGGTATCTGATCTCTACTACATCTCAATTTCTTCTAGTGGTTCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTAAGCCACATGGGAAATAGGAAGCTGGCAGGGGAG mutant 148 210 0.89153118941873 0.85 0.870765594709365 NA NA NA NA NA 0.845182157829463 0.85 0.891613791779863 0.934545510892704 0.046349031589267 0 NA NA 0.847591078914731 0.913079651336283 0.0231745157946335 NA NA NA FALSE 1 4.455 . missense_variant MODERATE ESYT1 HGNC 29534 ENST00000267113 12/31 rs543854365 1 tolerated(0.47) benign(0.012) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGG G,A 4.942e-05 12:56133603 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939452 missense_variant 2.271072 0.93111 0.89282 0.706548 0.943810353085039 0 2.14071709405869e-07 FALSE 6.49688e-05 ENSE00000939452_013 ENSE00000939452 013 12 56527325 56527494 + 47 87 36 G T 56527452 2010 128 CTCCCCTGCCAGCTTCCTATTTCCCATGTGGCTTACCTGCTCAAGTTTCTCTGCATCTGACAAAAGTGACAGCCATTCTAGCCTCAAGTGAACTTGGCCTTGCCCACCTTGTAGAGGGAACCACTAGAAGAAATTGAGATGTAGTAGAGATCAGATACCTGCTCAACTAC 56133540 56133710 56133667 56133668 56133668 exon -7 0.931034482758621 GTAGTTGAGCAGGTATCTGATCTCTACTACATCTCAATTTCTTCTAGTGGTTCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTTGAGCAGGTAAGCCACATGGGAAATAGGAAGCTGGCAGGGGAG GTAGTTGAGCAGGTATCTGATCTCTACTACATCTCAATTTCTTCTAGTGGTTCCCTCTACAAGGTGGGCAAGGCCAAGTTCACTTGAGGCTAGAATGGCTGTCACTTTTGTCAGATGCAGAGAAACTGGAGCAGGTAAGCCACATGGGAAATAGGAAGCTGGCAGGGGAG mutant 39 66 0.85 0.85 0.85 513 258 0.95 0.95 0.95 0.845182157829463 0.85 0.891613791779863 0.934545510892704 0.00481784217053727 0 0.0583862082201374 0.0154544891072964 0.847591078914731 0.913079651336283 0.00240892108526863 0.0369203486637169 0.0345114275784483 FALSE FALSE 1 1.697 . synonymous_variant LOW ESYT1 HGNC 29534 ENST00000267113 12/31 1 NA TGG G,T 8.236e-06 12:56133668 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939452 synonymous_variant 0.179345 0.93114 0.87034 0.706548 0.66636694750751 0 2.14071709405869e-07 FALSE 1.62426e-05 ENSE00000939455_000 ENSE00000939455 000 12 56528079 56528248 + 47 87 36 NA NA NA NA NA GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 NA NA NA NA NA NA GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC natural 105 136 0.996426181764336 0.996317386845223 0.996371784304779 2421 2274 0.975722112682382 0.913557153137688 0.944639632910035 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 0 0 0 0 0.996371784304779 0.944639632910035 0 0 0 FALSE FALSE NA NA NA NA NA ESYT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ESYT1 NA NA NA ENSG00000139641 ENSE00000939455 NA NA NA NA NA NA NA 2.14071709405869e-07 FALSE NA ENSE00000939455_001 ENSE00000939455 001 12 56528079 56528248 + 47 87 36 G C 56528089 2012 11 GAATGGTGCTCTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134304 56134305 56134305 upstr_intron -37 -0.765957446808511 GAATGGTGCTCTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant NA NA NA NA NA 56 55 1 0.964651620482622 0.982325810241311 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 NA NA 0.024277887317618 0.0510944673449342 0.996371784304779 0.944639632910035 NA 0.0376861773312761 NA FALSE NA 0.001 1.053 . intron_variant MODIFIER ESYT1 HGNC 29534 ENST00000267113 14/30 1 NA TGT G,C 8.236e-06 12:56134305 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 intron_variant -0.072905 0.29779 0.44569 0.256867 0.626949025480924 0.046323 2.14071709405869e-07 FALSE 1.62558e-05 ENSE00000939455_003 ENSE00000939455 003 12 56528079 56528248 + 47 87 36 A G 56528096 2014 18 GAATGGTGCTGTGGTATGCACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134311 56134312 56134312 upstr_intron -30 -0.617021276595745 GAATGGTGCTGTGGTATGCACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 80 105 0.85 0.85 0.85 NA NA NA NA NA 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 -0.146426181764336 -0.146317386845223 NA NA 0.996371784304779 0.944639632910035 -0.146371784304779 NA NA NA FALSE 0 -0.114 . intron_variant MODIFIER ESYT1 HGNC 29534 ENST00000267113 14/30 1 NA TAC A,G 1.647e-05 12:56134312 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 intron_variant 0.119544 0.13394 0.02587 0.256867 0.416667043799102 0.046323 2.14071709405869e-07 FALSE 1.62518e-05 ENSE00000939455_004 ENSE00000939455 004 12 56528079 56528248 + 47 87 36 C T 56528097 2015 19 GAATGGTGCTGTGGTATATACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134312 56134313 56134313 upstr_intron -29 -0.595744680851064 GAATGGTGCTGTGGTATATACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant NA NA NA NA NA 275 1480 1 0.995287533973273 0.997643766986636 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 NA NA 0.024277887317618 0.0817303808355845 0.996371784304779 0.944639632910035 NA 0.0530041340766013 NA FALSE NA 0 -0.497 . intron_variant MODIFIER ESYT1 HGNC 29534 ENST00000267113 14/30 1 NA ACA C,T 2.471e-05 12:56134313 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 intron_variant 0.025332 0.15241 0.0042 0.256867 0.436631469962566 0.0609381 2.14071709405869e-07 FALSE 3.65681e-05 ENSE00000939455_005 ENSE00000939455 005 12 56528079 56528248 + 47 87 36 C T 56528109 2016 31 GAATGGTGCTGTGGTATACACCCTTAATCCTTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134324 56134325 56134325 upstr_intron -17 -0.340425531914894 GAATGGTGCTGTGGTATACACCCTTAATCCTTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 24 24 1 1 1 711 926 0.988775289131756 0.99886600494568 0.993820647038718 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 0.00357381823566416 0.00368261315477747 0.0130531764493743 0.085308851807992 0.996371784304779 0.944639632910035 0.00362821569522082 0.0491810141286831 0.0455527984334623 FALSE FALSE 0 -0.657 . intron_variant MODIFIER ESYT1 HGNC 29534 ENST00000267113 14/30 1 NA CCT C,T 8.236e-06 12:56134325 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 intron_variant 1.550595 0.15008 0.07058 0.256867 0.77779242131434 0.0609381 2.14071709405869e-07 FALSE 8.1248e-06 ENSE00000939455_006 ENSE00000939455 006 12 56528079 56528248 + 47 87 36 A G 56528116 2017 38 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTGCATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134331 56134332 56134332 upstr_intron -10 -0.191489361702128 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTGCATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 13 26 1 1 1 111 56 1 1 1 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 0.00357381823566416 0.00368261315477747 0.024277887317618 0.086442846862312 0.996371784304779 0.944639632910035 0.00362821569522082 0.055360367089965 0.0517321513947442 FALSE FALSE 0 -2.298 . intron_variant MODIFIER ESYT1 HGNC 29534 ENST00000267113 14/30 1 NA TAC A,G 8.236e-06 12:56134332 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 intron_variant 1.618595 0.22465 0.13511 0.256867 0.722427857071033 0.0542882 2.14071709405869e-07 FALSE 8.12328e-06 ENSE00000939455_007 ENSE00000939455 007 12 56528079 56528248 + 47 87 36 A G 56528118 2018 40 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACGTCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134333 56134334 56134334 upstr_intron -8 -0.148936170212766 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACGTCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant NA NA NA NA NA 275 30 1 1 1 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 NA NA 0.024277887317618 0.086442846862312 0.996371784304779 0.944639632910035 NA 0.055360367089965 NA FALSE NA 0 -3.365 rs2292237 splice_region_variant&intron_variant LOW ESYT1 HGNC 29534 ENST00000267113 14/30 rs2292237 1 G:0.0933 G:0.0121 G:0.0288 NA G:0.0556 G:0.0507 G:0.3313 G:0.0129 G:0.0569 CAT A,G 0.081 12:56134334 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 splice_region_variant 0.67479 0.22345 0.13048 0.256867 0.67486359230134 0.0542882 2.14071709405869e-07 FALSE 0.0762613 ENSE00000939455_008 ENSE00000939455 008 12 56528079 56528248 + 47 87 36 C T 56528139 2019 61 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTATCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134354 56134355 56134355 exon 14 0.160919540229885 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTATCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 15 12 1 1 1 536 35 0.998454225688127 1 0.999227112844063 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 0.00357381823566416 0.00368261315477747 0.0227321130057446 0.086442846862312 0.996371784304779 0.944639632910035 0.00362821569522082 0.0545874799340283 0.0509592642388075 FALSE FALSE 1 2.716 . missense_variant MODERATE ESYT1 HGNC 29534 ENST00000267113 15/31 rs374315495 1 deleterious(0) benign(0.183) NA T:0.0002 T:0 ACC C,T 3.295e-05 12:56134355 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 missense_variant 4.444753 0.92749 0.8801 0.67177 0.998498450093476 0 2.14071709405869e-07 FALSE 2.03037e-05 ENSE00000939455_009 ENSE00000939455 009 12 56528079 56528248 + 47 87 36 G A 56528158 2020 80 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAAGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134373 56134374 56134374 exon 33 0.379310344827586 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAAGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant NA NA NA NA NA 41 229 0.978028925857551 1 0.989014462928776 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 NA NA 0.00230681317516945 0.086442846862312 0.996371784304779 0.944639632910035 NA 0.0443748300187407 NA FALSE NA 0.783 -0.524 . synonymous_variant LOW ESYT1 HGNC 29534 ENST00000267113 15/31 1 NA AGG G,A 2.471e-05 12:56134374 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 synonymous_variant 1.287624 0.88305 0.38127 0.67177 0.862869773109889 0 2.14071709405869e-07 FALSE 3.65461e-05 ENSE00000939455_010 ENSE00000939455 010 12 56528079 56528248 + 47 87 36 G T 56528162 2021 84 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAATCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134377 56134378 56134378 exon 37 0.425287356321839 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAATCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 83 16 0 0 0 NA NA NA NA NA 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 -0.996426181764336 -0.996317386845223 NA NA 0.996371784304779 0.944639632910035 -0.996371784304779 NA NA NA TRUE 1 2.57 . missense_variant MODERATE ESYT1 HGNC 29534 ENST00000267113 15/31 1 tolerated(0.26) probably_damaging(0.96) NA AGC G,T 8.236e-06 12:56134378 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 missense_variant 4.964373 0.93328 0.86059 0.67177 0.997479726974922 0 2.14071709405869e-07 FALSE NA ENSE00000939455_012 ENSE00000939455 012 12 56528079 56528248 + 47 87 36 C T 56528168 2023 90 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCTGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134383 56134384 56134384 exon 43 0.494252873563218 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCTGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant NA NA NA NA NA 102 45 0.0463044412242316 0.0113552013258044 0.028829821275018 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 NA NA -0.92941767145815 -0.902201951811884 0.996371784304779 0.944639632910035 NA -0.915809811635017 NA TRUE NA 1 1.084 rs149720231 missense_variant MODERATE ESYT1 HGNC 29534 ENST00000267113 15/31 rs149720231 1 deleterious(0) probably_damaging(0.962) NA T:0 T:0.0001 CCG C,T 1.647e-05 12:56134384 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 missense_variant 8.106059 0.92699 0.7441 0.67177 0.999228568897355 0 2.14071709405869e-07 FALSE 3.24868e-05 ENSE00000939455_014 ENSE00000939455 014 12 56528079 56528248 + 47 87 36 A C 56528181 2025 103 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACCAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134396 56134397 56134397 exon -32 0.64367816091954 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACCAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 102 293 0.844607447605632 0.834893420100522 0.839750433853077 587 189 0.831648943435638 0.809748911690028 0.820698927562833 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 -0.151818734158703 -0.1614239667447 -0.144073169246744 -0.10380824144766 0.996371784304779 0.944639632910035 -0.156621350451702 -0.123940705347202 0.0326806451045 FALSE FALSE 1 5.458 . missense_variant MODERATE ESYT1 HGNC 29534 ENST00000267113 15/31 1 deleterious(0.05) probably_damaging(0.983) NA CAA A,C 2.471e-05 12:56134397 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 missense_variant 5.741299 0.95567 0.9308 0.67177 0.996103474897225 0 2.14071709405869e-07 FALSE 2.03039e-05 ENSE00000939455_015 ENSE00000939455 015 12 56528079 56528248 + 47 87 36 C A 56528185 2026 107 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGAACCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134400 56134401 56134401 exon -28 0.689655172413793 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGAACCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 91 143 0.85 0.85 0.85 NA NA NA NA NA 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 -0.146426181764336 -0.146317386845223 NA NA 0.996371784304779 0.944639632910035 -0.146371784304779 NA NA NA FALSE 1 0.241 rs193251724 missense_variant MODERATE ESYT1 HGNC 29534 ENST00000267113 15/31 rs193251724 1 deleterious(0) probably_damaging(0.979) A:0.0012 A:0 A:0.0086 NA A:0 A:0 A:0 ACC C,A 6.589e-05 12:56134401 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 missense_variant 6.468592 0.92469 0.81285 0.67177 0.997396916295651 0 2.14071709405869e-07 FALSE 2.84252e-05 ENSE00000939455_016 ENSE00000939455 016 12 56528079 56528248 + 47 87 36 C T 56528186 2027 108 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACTCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134401 56134402 56134402 exon -27 0.701149425287356 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACTCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 13 11 0.997104629877178 0.991645571697605 0.994375100787392 NA NA NA NA NA 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 0.000678448112842234 -0.00467181514761728 NA NA 0.996371784304779 0.944639632910035 -0.00199668351738752 NA NA NA FALSE 1 6.126 . missense_variant MODERATE ESYT1 HGNC 29534 ENST00000267113 15/31 1 deleterious(0) probably_damaging(1) NA CCC C,T 8.236e-06 12:56134402 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 missense_variant 6.740125 0.96134 0.93894 0.67177 0.999245244321356 0 2.14071709405869e-07 FALSE 4.06072e-06 ENSE00000939455_017 ENSE00000939455 017 12 56528079 56528248 + 47 87 36 A T 56528191 2028 113 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCATAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134406 56134407 56134407 exon -22 0.758620689655172 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCATAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 199 102 0.85 0.85 0.85 125 332 0.87582904692581 0.84042874281985 0.85812889487283 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 -0.146426181764336 -0.146317386845222 -0.0998930657565719 -0.073128410317838 0.996371784304779 0.944639632910035 -0.146371784304779 -0.0865107380372049 0.0598610462675742 FALSE FALSE 0 -2.25 . missense_variant MODERATE ESYT1 HGNC 29534 ENST00000267113 15/31 1 tolerated(0.27) benign(0.001) NA AAA A,T 8.236e-06 12:56134407 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 missense_variant -0.033811 0.17539 0.07505 0.67177 0.916034461090459 0 2.14071709405869e-07 FALSE 8.12156e-06 ENSE00000939455_018 ENSE00000939455 018 12 56528079 56528248 + 47 87 36 C T 56528194 2029 116 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGTCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134409 56134410 56134410 exon -19 0.793103448275862 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGTCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 31 31 0.85 0.85 0.85 196 52 0.907817026900341 0.807607199628224 0.857712113264283 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 -0.146426181764336 -0.146317386845222 -0.0679050857820406 -0.105949953509464 0.996371784304779 0.944639632910035 -0.146371784304779 -0.0869275196457522 0.059444264659027 FALSE FALSE 0.986 0.186 . synonymous_variant LOW ESYT1 HGNC 29534 ENST00000267113 15/31 1 NA GCC C,T 8.236e-06 12:56134410 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 synonymous_variant 1.684679 0.91437 0.29493 0.67177 0.806207742943573 0 2.14071709405869e-07 FALSE 4.06095e-06 ENSE00000939455_023 ENSE00000939455 023 12 56528079 56528248 + 47 87 36 G A 56528204 2034 126 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCAATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC 56134294 56134464 56134419 56134420 56134420 exon -9 0.908045977011494 GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCAATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC GAATGGTGCTGTGGTATACACCCTTAATCCCTCCTCTACATCTCCAGGCTGTCTACAGTACCAACTGCCCAGTGTGGGAGGAAGCGTTCCGGTTCTTCCTACAAGACCCTCAAAGCCAGGAGCTCGATGTGCAAGTGAGATAATCACCTCTTCATCCCCTCCCGAATACC mutant 43 74 0.83714674443512 0.890040467370378 0.863593605902749 NA NA NA NA NA 0.996426181764336 0.996317386845223 0.975722112682382 0.913557153137688 -0.159279437329216 -0.106276919474845 NA NA 0.996371784304779 0.944639632910035 -0.13277817840203 NA NA NA FALSE 1 4.839 NA NA NA ESYT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:56134420 ESYT1 HGNC Symbol protein_coding 26421 ENSG00000139641 ENSE00000939455 missense_variant 3.318167 0.96151 0.9223 0.706548 0.999271875426984 0 2.14071709405869e-07 FALSE 4.06124e-05 ENSE00000940404_000 ENSE00000940404 000 13 113888166 113888335 + 45 90 35 NA NA NA NA NA AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT 113233851 113234021 NA NA NA NA NA NA AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT natural 399 564 0.764456553586361 0.85 0.80722827679318 1401 1624 0.906636351219625 0.823230561980591 0.864933456600108 0.764456553586361 0.85 0.906636351219625 0.823230561980591 0 0 0 0 0.80722827679318 0.864933456600108 0 0 0 FALSE FALSE NA NA NA NA NA CUL4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CUL4A NA NA NA ENSG00000139842 ENSE00003520003 NA NA NA NA NA NA NA 0.99941287660114 TRUE NA ENSE00000940404_002 ENSE00000940404 002 13 113888166 113888335 + 45 90 35 C T 113888188 791 23 AGTTTCCTTTACTGAAATTGGTTAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT 113233851 113234021 113233873 113233874 113233874 upstr_intron -23 -0.488888888888889 AGTTTCCTTTACTGAAATTGGTTAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT mutant 124 204 0.85 0.85 0.85 NA NA NA NA NA 0.764456553586361 0.85 0.906636351219625 0.823230561980591 0.0855434464136393 1.11022302462516e-16 NA NA 0.80722827679318 0.864933456600108 0.0427717232068197 NA NA NA FALSE 0 -0.566 . intron_variant MODIFIER CUL4A HGNC 2554 ENST00000375441 6/19 1 NA TCA C,T 8.236e-06 13:113233874 CUL4A HGNC Symbol protein_coding 58915 ENSG00000139842 ENSE00003520003 intron_variant 0.639176 0.16923 0.05245 0.256867 0.76081842206765 0.159573 0.99941287660114 TRUE NA ENSE00000940404_003 ENSE00000940404 003 13 113888166 113888335 + 45 90 35 C T 113888194 792 29 AGTTTCCTTTACTGAAATTGGTCAGTAATTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT 113233851 113234021 113233879 113233880 113233880 upstr_intron -17 -0.355555555555556 AGTTTCCTTTACTGAAATTGGTCAGTAATTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT mutant NA NA NA NA NA 272 27 0.8 0.805354852671927 0.802677426335964 0.764456553586361 0.85 0.906636351219625 0.823230561980591 NA NA -0.106636351219625 -0.017875709308664 0.80722827679318 0.864933456600108 NA -0.0622560302641444 NA FALSE NA 0.027 0.81 . intron_variant MODIFIER CUL4A HGNC 2554 ENST00000375441 6/19 1 NA ACT C,T 8.237e-06 13:113233880 CUL4A HGNC Symbol protein_coding 58915 ENSG00000139842 ENSE00003520003 intron_variant -0.272411 0.27049 0.08063 0.256867 0.407005675939808 0.159573 0.99941287660114 TRUE NA ENSE00000940404_005 ENSE00000940404 005 13 113888166 113888335 + 45 90 35 G A 113888202 794 37 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTATTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT 113233851 113234021 113233887 113233888 113233888 upstr_intron -9 -0.177777777777778 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTATTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT mutant NA NA NA NA NA 321 45 0.793383891379944 0.95 0.871691945689972 0.764456553586361 0.85 0.906636351219625 0.823230561980591 NA NA -0.11325245983968 0.126769438019409 0.80722827679318 0.864933456600108 NA 0.00675848908986437 NA FALSE NA 0.002 -2.676 rs191786197 intron_variant MODIFIER CUL4A HGNC 2554 ENST00000375441 6/19 rs191786197 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TGT G,A 8.236e-06 13:113233888 CUL4A HGNC Symbol protein_coding 58915 ENSG00000139842 ENSE00003520003 intron_variant -0.285814 0.17665 0.01125 0.295142 0.590836775080298 0.159573 0.99941287660114 TRUE 4.12344e-06 ENSE00000940404_006 ENSE00000940404 006 13 113888166 113888335 + 45 90 35 C T 113888206 795 41 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTTTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT 113233851 113234021 113233891 113233892 113233892 upstr_intron -5 -0.0888888888888889 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTTTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT mutant NA NA NA NA NA 165 204 1 0.990346519745772 0.995173259872886 0.764456553586361 0.85 0.906636351219625 0.823230561980591 NA NA 0.0933636487803752 0.167115957765182 0.80722827679318 0.864933456600108 NA 0.130239803272778 NA FALSE NA 0.002 -0.189 . splice_region_variant&intron_variant LOW CUL4A HGNC 2554 ENST00000375441 6/19 1 NA TCT C,T 8.236e-06 13:113233892 CUL4A HGNC Symbol protein_coding 58915 ENSG00000139842 ENSE00003520003 splice_region_variant 0.267802 0.2186 0.11515 0.295142 0.520008302906136 0.226923 0.99941287660114 TRUE 4.10374e-06 ENSE00000940404_008 ENSE00000940404 008 13 113888166 113888335 + 45 90 35 C G 113888232 797 67 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAAGTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT 113233851 113234021 113233917 113233918 113233918 exon 22 0.244444444444444 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAAGTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT mutant NA NA NA NA NA 129 86 0.892100441054103 0.95 0.921050220527052 0.764456553586361 0.85 0.906636351219625 0.823230561980591 NA NA -0.0145359101655215 0.126769438019409 0.80722827679318 0.864933456600108 NA 0.0561167639269437 NA FALSE NA 0.999 0.616 . missense_variant MODERATE CUL4A HGNC 2554 ENST00000375441 7/20 1 tolerated(0.23) benign(0) NA ACT C,G 8.236e-06 13:113233918 CUL4A HGNC Symbol protein_coding 58915 ENSG00000139842 ENSE00003520003 missense_variant 0.915855 0.96799 0.77384 0.732398 0.961534006255855 0 0.99941287660114 TRUE 1.63028e-05 ENSE00000940404_010 ENSE00000940404 010 13 113888166 113888335 + 45 90 35 G A 113888271 799 106 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCAAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT 113233851 113234021 113233956 113233957 113233957 exon -30 0.677777777777778 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCAAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT mutant NA NA NA NA NA 53 86 0 0 0 0.764456553586361 0.85 0.906636351219625 0.823230561980591 NA NA -0.906636351219625 -0.823230561980591 0.80722827679318 0.864933456600108 NA -0.864933456600108 NA TRUE NA 1 9.636 . missense_variant MODERATE CUL4A HGNC 2554 ENST00000375441 7/20 1 deleterious(0) possibly_damaging(0.806) NA CGA G,A 8.236e-06 13:113233957 CUL4A HGNC Symbol protein_coding 58915 ENSG00000139842 ENSE00003520003 missense_variant 6.275351 0.99442 0.99122 0.732398 0.999300360512163 0 0.99941287660114 TRUE NA ENSE00000940404_011 ENSE00000940404 011 13 113888166 113888335 + 45 90 35 T C 113888283 800 118 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGCTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT 113233851 113234021 113233968 113233969 113233969 exon -18 0.811111111111111 AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGCTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT AGTTTCCTTTACTGAAATTGGTCAGTAACTCTGCTTGTTTCTTAGGTGTATAAAGATTCATTTGAACTGAAATTTTTGGAAGAGACTAATTGCTTATATGCTGCCGAAGGCCAAAGGTTAATGCAGGAAAGAGAGGTGAGATGATGGGATGTTTCCGAATCCCCTGGCTT mutant 36 66 0.85 0.85 0.85 754 1474 0.892285638994482 0.982634198312286 0.937459918653384 0.764456553586361 0.85 0.906636351219625 0.823230561980591 0.0855434464136393 0 -0.0143507122251433 0.159403636331695 0.80722827679318 0.864933456600108 0.0427717232068197 0.072526462053276 0.0297547388464564 FALSE FALSE 0.947 0.944 . synonymous_variant LOW CUL4A HGNC 2554 ENST00000375441 7/20 1 NA GTT T,C 8.236e-06 13:113233969 CUL4A HGNC Symbol protein_coding 58915 ENSG00000139842 ENSE00003520003 synonymous_variant -0.795059 0.96973 0.58265 0.732398 0.386379181558078 0 0.99941287660114 TRUE 4.08841e-06 ENSE00000940447_000 ENSE00000940447 000 14 31549725 31549894 + 54 72 44 NA NA NA NA NA CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT 31080518 31080688 NA NA NA NA NA NA CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT natural 30 45 0.998000656515046 0.93828165047839 0.968141153496718 361 848 0.995497561950639 0.998184418317467 0.996840990134053 0.998000656515046 0.93828165047839 0.995497561950639 0.998184418317467 0 0 0 0 0.968141153496718 0.996840990134053 0 0 0 FALSE FALSE NA NA NA NA NA AP4S1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP4S1 NA NA NA ENSG00000100478 ENSE00000940447 NA NA NA NA NA NA NA 1.33545575036575e-07 FALSE NA ENSE00000940447_002 ENSE00000940447 002 14 31549725 31549894 + 54 72 44 C A 31549762 282 38 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTATTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT 31080518 31080688 31080555 31080556 31080556 upstr_intron -17 -0.296296296296296 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTATTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT mutant 21 14 0.922090381241667 0.85 0.886045190620833 NA NA NA NA NA 0.998000656515046 0.93828165047839 0.995497561950639 0.998184418317467 -0.0759102752733792 -0.0882816504783902 NA NA 0.968141153496718 0.996840990134053 -0.0820959628758847 NA NA NA FALSE 0.019 0.146 . intron_variant MODIFIER AP4S1 HGNC 575 ENST00000554345 4/4 1 NA TCT C,A 1.647e-05 14:31080556 AP4S1 HGNC Symbol protein_coding 71344 ENSG00000100478 ENSE00000940447 intron_variant 0.464273 0.20242 0.11349 0.074636 0.745523488033362 0.0560146 1.33545575036575e-07 FALSE 2.44318e-05 ENSE00000940447_005 ENSE00000940447 005 14 31549725 31549894 + 54 72 44 T G 31549773 285 49 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCGTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT 31080518 31080688 31080566 31080567 31080567 upstr_intron -6 -0.0925925925925926 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCGTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT mutant NA NA NA NA NA 1292 935 0.0173437652556735 0.0342054187095718 0.0257745919826226 0.998000656515046 0.93828165047839 0.995497561950639 0.998184418317467 NA NA -0.978153796694966 -0.963978999607895 0.968141153496718 0.996840990134053 NA -0.97106639815143 NA TRUE NA 1 3.634 . intron_variant MODIFIER AP4S1 HGNC 575 ENST00000554345 4/4 1 NA CTT T,G 8.237e-06 14:31080567 AP4S1 HGNC Symbol protein_coding 71344 ENSG00000100478 ENSE00000940447 splice_region_variant 1.019821 0.98539 0.95739 0.074636 0.823563268886748 0.964682 1.33545575036575e-07 FALSE 4.06557e-06 ENSE00000940447_006 ENSE00000940447 006 14 31549725 31549894 + 54 72 44 C A 31549776 286 52 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCAAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT 31080518 31080688 31080569 31080570 31080570 upstr_intron -3 -0.037037037037037 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCAAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT mutant NA NA NA NA NA 153 865 0.00320742801040975 0 0.00160371400520488 0.998000656515046 0.93828165047839 0.995497561950639 0.998184418317467 NA NA -0.99229013394023 -0.998184418317467 0.968141153496718 0.996840990134053 NA -0.995237276128848 NA TRUE NA 1 3.639 rs185246578 intron_variant MODIFIER AP4S1 HGNC 575 ENST00000554345 4/4 rs185246578 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 CCA C,A 1.647e-05 14:31080570 AP4S1 HGNC Symbol protein_coding 71344 ENSG00000100478 ENSE00000940447 splice_region_variant 2.052966 0.98864 0.96162 0.074636 0.94859119786939 0.986401 1.33545575036575e-07 FALSE 1.21945e-05 ENSE00000940447_008 ENSE00000940447 008 14 31549725 31549894 + 54 72 44 A T 31549803 288 79 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCTATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT 31080518 31080688 31080596 31080597 31080597 exon 25 0.347222222222222 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCTATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT mutant NA NA NA NA NA 18 43 1 1 1 0.998000656515046 0.93828165047839 0.995497561950639 0.998184418317467 NA NA 0.00450243804936068 0.00181558168253337 0.968141153496718 0.996840990134053 NA 0.00315900986594703 NA FALSE NA 0.103 0.783 . intron_variant MODIFIER AP4S1 HGNC 575 ENST00000554345 4/4 1 NA CAA A,T 8.237e-06 14:31080597 AP4S1 HGNC Symbol protein_coding 71344 ENSG00000100478 ENSE00000940447 missense_variant 1.836763 0.64286 0.09142 0.553676 0.986624177723987 0 1.33545575036575e-07 FALSE 4.06167e-06 ENSE00000940447_013 ENSE00000940447 013 14 31549725 31549894 + 54 72 44 C A 31549837 293 113 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTATGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT 31080518 31080688 31080630 31080631 31080631 exon -14 0.819444444444444 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTATGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT mutant NA NA NA NA NA 19 224 1 1 1 0.998000656515046 0.93828165047839 0.995497561950639 0.998184418317467 NA NA 0.00450243804936068 0.00181558168253337 0.968141153496718 0.996840990134053 NA 0.00315900986594703 NA FALSE NA 0 -0.268 NA NA NA AP4S1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:31080631 AP4S1 HGNC Symbol protein_coding 71344 ENSG00000100478 ENSE00000940447 missense_variant -0.518506 0.14317 0.03749 0.553676 0.979929782992121 0 1.33545575036575e-07 FALSE 4.062e-06 ENSE00000940447_015 ENSE00000940447 015 14 31549725 31549894 + 54 72 44 T C 31549838 295 114 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCCGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT 31080518 31080688 31080631 31080632 31080632 exon -13 0.833333333333333 CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCCGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT mutant NA NA NA NA NA 27 17 1 1 1 0.998000656515046 0.93828165047839 0.995497561950639 0.998184418317467 NA NA 0.00450243804936068 0.00181558168253337 0.968141153496718 0.996840990134053 NA 0.00315900986594703 NA FALSE NA 0 0.244 . intron_variant MODIFIER AP4S1 HGNC 575 ENST00000554345 4/4 1 NA CTG T,C 2.471e-05 14:31080632 AP4S1 HGNC Symbol protein_coding 71344 ENSG00000100478 ENSE00000940447 synonymous_variant -0.8093 0.15087 0.05078 0.553676 0.561772585967341 0 1.33545575036575e-07 FALSE 1.21862e-05 ENSE00000940447_BRK ENSE00000940447 BRK 14 31549725 31549894 + 54 72 44 A,G; T,T NA NA NA CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCTTAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGCCAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT 31080518 31080688 NA NA NA NA NA NA CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCTTAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGCCAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT CAGTGGTCCCCAGTGTCTTTTTTCTAACCCTTGCACTCTTTTTCTGTCTTCCAGAGTGAATTAGATGTATCCTTTTTCAATACTGTTTTCCACAGTACTTGGCAAATGCACTCTGGTCCTTATCAGGTAAGTACCACAAGGCAGGAAAACTATTCAGCAGAGTCCAGAGT control 55 19 0 0 0 34 62 0 0 0 0.998000656515046 0.93828165047839 0.995497561950639 0.998184418317467 -0.998000656515046 -0.93828165047839 -0.995497561950639 -0.998184418317467 0.968141153496718 0.996840990134053 -0.968141153496718 -0.996840990134053 0.0286998366373349 TRUE TRUE NA NA NA NA NA AP4S1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP4S1 NA NA NA ENSG00000100478 ENSE00000940447 NA NA NA NA NA NA NA 1.33545575036575e-07 FALSE NA ENSE00000941153_000 ENSE00000941153 000 14 75284886 75285055 + 48 84 38 NA NA NA NA NA CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 NA NA NA NA NA NA CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG natural 52 50 0.972254221435477 0.932923998754273 0.952589110094875 7966 5387 0.985552010727473 0.996655790749411 0.991103900738442 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 0 0 0 0 0.952589110094875 0.991103900738442 0 0 0 FALSE FALSE NA NA NA NA NA YLPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YLPM1 NA NA NA ENSG00000119596 ENSE00003701536 NA NA NA NA NA NA NA 0.999933059355471 TRUE NA ENSE00000941153_001 ENSE00000941153 001 14 75284886 75285055 + 48 84 38 T C 75284898 1071 13 CTTTGAGTAGTTCCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818194 74818195 74818195 upstr_intron -36 -0.729166666666667 CTTTGAGTAGTTCCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 318 463 0.997778975286792 0.993801132690529 0.995790053988661 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0122269645593189 -0.0028546580588813 0.952589110094875 0.991103900738442 NA 0.00468615325021882 NA FALSE NA 0.998 2.033 . intron_variant&NMD_transcript_variant MODIFIER YLPM1 HGNC 17798 ENST00000549293 12/16 1 NA TTC T,C 8.297e-06 14:74818195 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 intron_variant 1.361938 0.30317 0.58652 0.295142 0.862084848985284 0.0794123 0.999933059355471 TRUE 5.34051e-06 ENSE00000941153_002 ENSE00000941153 002 14 75284886 75285055 + 48 84 38 A G 75284901 1072 16 CTTTGAGTAGTTTCTGGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818197 74818198 74818198 upstr_intron -33 -0.666666666666667 CTTTGAGTAGTTTCTGGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 208 90 0.972852978137989 0.995208751973522 0.984030865055755 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA -0.0126990325894846 -0.00144703877588848 0.952589110094875 0.991103900738442 NA -0.00707303568268652 NA FALSE NA 0 -0.544 . intron_variant&NMD_transcript_variant MODIFIER YLPM1 HGNC 17798 ENST00000549293 12/16 rs529591074 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 TAG A,G 1.659e-05 14:74818198 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 intron_variant 1.351047 0.19968 0.11106 0.295142 0.676626729928488 0.0698953 0.999933059355471 TRUE 1.03849e-05 ENSE00000941153_003 ENSE00000941153 003 14 75284886 75285055 + 48 84 38 A C 75284903 1073 18 CTTTGAGTAGTTTCTAGCGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818199 74818200 74818200 upstr_intron -31 -0.625 CTTTGAGTAGTTTCTAGCGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 652 264 0.994310387656356 1 0.997155193828178 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.00875837692888293 0.00334420925058931 0.952589110094875 0.991103900738442 NA 0.00605129308973612 NA FALSE NA 0.003 0.586 . intron_variant&NMD_transcript_variant MODIFIER YLPM1 HGNC 17798 ENST00000549293 12/16 1 NA GAG A,C 8.294e-06 14:74818200 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 intron_variant 1.078751 0.38292 0.41647 0.295142 0.782668553826001 0.0708573 0.999933059355471 TRUE 5.10976e-06 ENSE00000941153_005 ENSE00000941153 005 14 75284886 75285055 + 48 84 38 A G 75284913 1075 28 CTTTGAGTAGTTTCTAGAGATAACTCAGCCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818209 74818210 74818210 upstr_intron -21 -0.416666666666667 CTTTGAGTAGTTTCTAGAGATAACTCAGCCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 675 317 1 0.945438652369977 0.972719326184988 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0144479892725269 -0.0512171383794339 0.952589110094875 0.991103900738442 NA -0.0183845745534535 NA FALSE NA 0 0.408 . intron_variant&NMD_transcript_variant MODIFIER YLPM1 HGNC 17798 ENST00000549293 12/16 1 NA AAC A,G 8.287e-06 14:74818210 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 intron_variant 0.312302 0.28619 0.16551 0.295142 0.545715337110113 0.0708573 0.999933059355471 TRUE NA ENSE00000941153_006 ENSE00000941153 006 14 75284886 75285055 + 48 84 38 T G 75284919 1076 34 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCGGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818215 74818216 74818216 upstr_intron -15 -0.291666666666667 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCGGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 545 1530 0.989751075893227 0.996082255130915 0.992916665512071 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0041990651657543 -0.000573535618496157 0.952589110094875 0.991103900738442 NA 0.00181276477362907 NA FALSE NA 0.797 2.456 . intron_variant&NMD_transcript_variant MODIFIER YLPM1 HGNC 17798 ENST00000549293 12/16 1 NA CTG T,G 8.286e-06 14:74818216 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 intron_variant 0.505275 0.3467 0.49701 0.295142 0.702985016010774 0.0708573 0.999933059355471 TRUE 4.54579e-06 ENSE00000941153_007 ENSE00000941153 007 14 75284886 75285055 + 48 84 38 C G 75284938 1077 53 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGGTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818234 74818235 74818235 exon 5 0.0595238095238095 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGGTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 858 170 0.998146335284234 0.999068550135705 0.998607442709969 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0125943245567611 0.00241275938629382 0.952589110094875 0.991103900738442 NA 0.00750354197152747 NA FALSE NA 1 7.487 . missense_variant&NMD_transcript_variant MODERATE YLPM1 HGNC 17798 ENST00000549293 13/17 1 benign(0.302) NA GCT C,G 8.278e-06 14:74818235 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 missense_variant 6.797702 0.99467 0.99143 0.706548 0.998098020032789 0 0.999933059355471 TRUE 4.3473e-06 ENSE00000941153_008 ENSE00000941153 008 14 75284886 75285055 + 48 84 38 T C 75284942 1078 57 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGACCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818238 74818239 74818239 exon 9 0.107142857142857 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGACCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 1100 120 0.924021482236203 1 0.962010741118101 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA -0.0615305284912706 0.00334420925058931 0.952589110094875 0.991103900738442 NA -0.0290931596203406 NA FALSE NA 1 1.142 . synonymous_variant&NMD_transcript_variant LOW YLPM1 HGNC 17798 ENST00000549293 13/17 1 NA ATC T,C 1.656e-05 14:74818239 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 synonymous_variant 0.450727 0.971 0.86446 0.706548 0.804257247297571 0 0.999933059355471 TRUE 1.72897e-05 ENSE00000941153_009 ENSE00000941153 009 14 75284886 75285055 + 48 84 38 C T 75284961 1079 76 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTTGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818257 74818258 74818258 exon 28 0.333333333333333 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTTGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 387 1420 0.998393898232692 0.999973195033867 0.999183546633279 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0128418875052184 0.00331740428445615 0.952589110094875 0.991103900738442 NA 0.00807964589483728 NA FALSE NA 1 5.693 . missense_variant&NMD_transcript_variant MODERATE YLPM1 HGNC 17798 ENST00000549293 13/17 1 probably_damaging(0.987) NA TCG C,T 1.655e-05 14:74818258 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 missense_variant 8.36592 0.9944 0.98295 0.706548 0.999247052023329 0 0.999933059355471 TRUE NA ENSE00000941153_010 ENSE00000941153 010 14 75284886 75285055 + 48 84 38 C T 75284973 1080 88 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGTGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818269 74818270 74818270 exon 40 0.476190476190476 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGTGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 1297 468 0.902417709132698 0.999674064064686 0.951045886598692 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA -0.083134301594775 0.00301827331527482 0.952589110094875 0.991103900738442 NA -0.0400580141397501 NA FALSE NA 1 4.425 . missense_variant&NMD_transcript_variant MODERATE YLPM1 HGNC 17798 ENST00000549293 13/17 1 probably_damaging(0.99) NA GCG C,T 2.483e-05 14:74818270 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 missense_variant 8.110873 0.99027 0.97083 0.706548 0.999289390714932 0 0.999933059355471 TRUE NA ENSE00000941153_011 ENSE00000941153 011 14 75284886 75285055 + 48 84 38 G A 75284974 1081 89 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCATCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818270 74818271 74818271 exon 41 0.488095238095238 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCATCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 214 117 1 1 1 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0144479892725269 0.00334420925058931 0.952589110094875 0.991103900738442 NA 0.0088960992615581 NA FALSE NA 1 9.477 . missense_variant&NMD_transcript_variant MODERATE YLPM1 HGNC 17798 ENST00000549293 13/17 rs374750419 1 possibly_damaging(0.566) NA A:0.0003 A:0.0001 CGT G,A 3.311e-05 14:74818271 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 missense_variant 7.705746 0.99454 0.99339 0.706548 0.999421078855116 0 0.999933059355471 TRUE NA ENSE00000941153_012 ENSE00000941153 012 14 75284886 75285055 + 48 84 38 T C 75285002 1082 117 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGACGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818298 74818299 74818299 exon -16 0.821428571428571 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGACGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 32 535 1 1 1 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0144479892725269 0.00334420925058931 0.952589110094875 0.991103900738442 NA 0.0088960992615581 NA FALSE NA 1 3.099 . synonymous_variant&NMD_transcript_variant LOW YLPM1 HGNC 17798 ENST00000549293 13/17 1 NA ATG T,C 8.279e-06 14:74818299 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 synonymous_variant 0.36138 0.98783 0.95469 0.706548 0.89103253796979 0 0.999933059355471 TRUE NA ENSE00000941153_013 ENSE00000941153 013 14 75284886 75285055 + 48 84 38 A G 75285021 1083 136 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGGGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818317 74818318 74818318 downstr_intron 4 1.10810810810811 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGGGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 2490 336 0.96758863058783 0.960891540232604 0.964240085410217 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA -0.0179633801396436 -0.0357642505168062 0.952589110094875 0.991103900738442 NA -0.0268638153282249 NA FALSE NA 0.996 4.585 . splice_region_variant&intron_variant&NMD_transcript_variant LOW YLPM1 HGNC 17798 ENST00000549293 13/16 1 NA GAG A,G 8.285e-06 14:74818318 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 splice_region_variant 2.028467 0.95247 0.96916 0.156188 0.878584125821354 0.290434 0.999933059355471 TRUE NA ENSE00000941153_014 ENSE00000941153 014 14 75284886 75285055 + 48 84 38 G A 75285022 1084 137 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAATATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 74818318 74818319 74818319 downstr_intron 5 1.13513513513514 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAATATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 1387 122 1 0.995815300694331 0.997907650347165 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0144479892725269 -0.000840490055079801 0.952589110094875 0.991103900738442 NA 0.00680374960872354 NA FALSE NA 0.995 2.694 . splice_region_variant&intron_variant&NMD_transcript_variant LOW YLPM1 HGNC 17798 ENST00000549293 13/16 1 NA AGT G,A 1.658e-05 14:74818319 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 splice_region_variant 2.15615 0.96363 0.67987 0.156188 0.916873957211435 0.292894 0.999933059355471 TRUE NA ENSE00000941153_015 ENSE00000941153 015 14 75284886 75285055 + 48 84 38 C T 75285035 1085 150 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTTAAATGCAATGCAAAGTGATG 74818182 74818352 74818331 74818332 74818332 downstr_intron 18 1.48648648648649 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTTAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 218 114 1 1 1 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0144479892725269 0.00334420925058931 0.952589110094875 0.991103900738442 NA 0.0088960992615581 NA FALSE NA 0 -0.653 . intron_variant&NMD_transcript_variant MODIFIER YLPM1 HGNC 17798 ENST00000549293 13/16 rs559683547 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCA C,T 1.66e-05 14:74818332 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 intron_variant -0.010481 0.09649 0.00487 0.062308 0.431738647189191 0.0515836 0.999933059355471 TRUE 3.52748e-05 ENSE00000941153_016 ENSE00000941153 016 14 75284886 75285055 + 48 84 38 T G 75285039 1086 154 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAAGGCAATGCAAAGTGATG 74818182 74818352 74818335 74818336 74818336 downstr_intron 22 1.59459459459459 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAAGGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 1009 256 0.998782778186876 0.944992577595082 0.971887677890979 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0132307674594028 -0.0516632131543283 0.952589110094875 0.991103900738442 NA -0.0192162228474628 NA FALSE NA 0 -0.671 . intron_variant&NMD_transcript_variant MODIFIER YLPM1 HGNC 17798 ENST00000549293 13/16 rs369109781 1 NA G:0 G:0.0001 ATG T,G 8.307e-06 14:74818336 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 intron_variant -0.072983 0.11021 0.07217 0.099367 0.332645613928768 0.0515836 0.999933059355471 TRUE 1.04158e-05 ENSE00000941153_017 ENSE00000941153 017 14 75284886 75285055 + 48 84 38 G A 75285045 1087 160 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATACAAAGTGATG 74818182 74818352 74818341 74818342 74818342 downstr_intron 28 1.75675675675676 CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATACAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG mutant NA NA NA NA NA 641 211 1 1 1 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA 0.0144479892725269 0.00334420925058931 0.952589110094875 0.991103900738442 NA 0.0088960992615581 NA FALSE NA 0 -0.011 . intron_variant&NMD_transcript_variant MODIFIER YLPM1 HGNC 17798 ENST00000549293 13/16 rs200249632 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 TGC G,A 0.0004001 14:74818342 YLPM1 HGNC Symbol protein_coding 96069 ENSG00000119596 ENSE00003701536 intron_variant 0.102685 0.17121 0.04153 0.099367 0.47991518555722 0.0515836 0.999933059355471 TRUE 0.000462397 ENSE00000941153_BRK ENSE00000941153 BRK 14 75284886 75285055 + 48 84 38 A,G; T,T NA NA NA CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATTTATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGCCGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG 74818182 74818352 NA NA NA NA NA NA CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATTTATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGCCGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG CTTTGAGTAGTTTCTAGAGATAACTCAACCATCTGAATTTTTCAATAGATGGCTGATCACTGGGAAACTGCACCTCGTCACATGATGCGTCTAGATATTCGTTCTTTGCTGCAAGATGCTGCTATTGAAGAGGTGAGTATCCTTTGGTTCAAATGCAATGCAAAGTGATG control NA NA NA NA NA 179 68 0.0130930810278693 0 0.00654654051393464 0.972254221435477 0.932923998754273 0.985552010727473 0.996655790749411 NA NA -0.972458929699604 -0.996655790749411 0.952589110094875 0.991103900738442 NA -0.984557360224507 NA TRUE NA NA NA NA NA NA YLPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YLPM1 NA NA NA ENSG00000119596 ENSE00003701536 NA NA NA NA NA NA NA 0.999933059355471 TRUE NA ENSE00000941296_000 ENSE00000941296 000 14 92958462 92958631 + 57 66 47 NA NA NA NA NA GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 NA NA NA NA NA NA GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT natural 181 178 0.932830314122733 0.960264126706123 0.946547220414428 7796 8327 0.935939809403832 0.974812160913384 0.955375985158608 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 0 0 0 0 0.946547220414428 0.955375985158608 0 0 0 FALSE FALSE NA NA NA NA NA SLC24A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A4 NA NA NA ENSG00000140090 ENSE00003601716 NA NA NA NA NA NA NA 3.16711232181816e-06 FALSE NA ENSE00000941296_001 ENSE00000941296 001 14 92958462 92958631 + 57 66 47 T C 92958474 1411 13 GGATGGATTGGCCCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492129 92492130 92492130 upstr_intron -45 -0.771929824561403 GGATGGATTGGCCCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 40 86 0.85 0.85 0.85 NA NA NA NA NA 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0828303141227328 -0.110264126706123 NA NA 0.946547220414428 0.955375985158608 -0.096547220414428 NA NA NA FALSE 0 -1.662 . intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 5/6 1 NA CTC T,C 8.236e-06 14:92492130 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant 0.073217 0.08279 0.00047 0 0.717235873052466 0.121998 3.16711232181816e-06 FALSE 4.09729e-06 ENSE00000941296_002 ENSE00000941296 002 14 92958462 92958631 + 57 66 47 T C 92958476 1412 15 GGATGGATTGGCTCCGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492131 92492132 92492132 upstr_intron -43 -0.736842105263158 GGATGGATTGGCTCCGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 62 72 0.907228271785086 0.85 0.878614135892543 699 681 0.961414903531795 0.97087088586078 0.966142894696287 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0256020423376471 -0.110264126706123 0.0254750941279623 -0.00394127505260389 0.946547220414428 0.955375985158608 -0.0679330845218852 0.0107669095376792 0.0786999940595644 FALSE FALSE 0 -1.398 . intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 5/6 1 NA CTG T,C 2.471e-05 14:92492132 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant -0.018439 0.07711 0.00176 0 0.628934050275823 0.121998 3.16711232181816e-06 FALSE 8.19686e-06 ENSE00000941296_003 ENSE00000941296 003 14 92958462 92958631 + 57 66 47 C T 92958500 1413 39 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCATGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492155 92492156 92492156 upstr_intron -19 -0.315789473684211 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCATGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 605 737 0.994285154875134 0.995158208132896 0.994721681504015 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA 0.0583453454713012 0.0203460472195125 0.946547220414428 0.955375985158608 NA 0.0393456963454069 NA FALSE NA 0 -1.791 . intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 5/6 1 NA ACG C,T 1.688e-05 14:92492156 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant -0.136484 0.21267 0.01955 0 0.641392465267728 0.121008 3.16711232181816e-06 FALSE 1.2699e-05 ENSE00000941296_004 ENSE00000941296 004 14 92958462 92958631 + 57 66 47 G A 92958501 1414 40 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACATGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492156 92492157 92492157 upstr_intron -18 -0.298245614035088 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACATGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 46 81 0.94125630080934 0.890581294708124 0.915918797758732 601 2777 0.940750884315015 0.875599831903364 0.90817535810919 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 0.0084259866866071 -0.0696828319979994 0.00481107491118238 -0.0992123290100193 0.946547220414428 0.955375985158608 -0.0306284226556962 -0.0472006270494185 0.0165722043937223 FALSE FALSE 0.001 -0.125 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:92492157 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant -0.179028 0.16755 0.01427 0 0.637656419009904 0.121008 3.16711232181816e-06 FALSE 2.53833e-05 ENSE00000941296_005 ENSE00000941296 005 14 92958462 92958631 + 57 66 47 G T 92958501 1415 40 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACTTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492156 92492157 92492157 upstr_intron -18 -0.298245614035088 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACTTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 378 1050 0.999563698974584 0.997196960562179 0.998380329768381 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA 0.0636238895707515 0.0223847996487949 0.946547220414428 0.955375985158608 NA 0.0430043446097732 NA FALSE NA 0.001 -0.125 NA NA NA SLC24A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A4 NA NA NA ENSG00000140090 ENSE00003601716 intron_variant -0.476797 0.17822 0.01631 0 0.631573643390548 0.121008 3.16711232181816e-06 FALSE 4.23055e-06 ENSE00000941296_006 ENSE00000941296 006 14 92958462 92958631 + 57 66 47 G C 92958509 1416 48 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTCATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492164 92492165 92492165 upstr_intron -10 -0.157894736842105 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTCATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 324 657 0.994140272091731 1 0.997070136045866 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA 0.0582004626878986 0.0251878390866164 0.946547220414428 0.955375985158608 NA 0.0416941508872575 NA FALSE NA 0.001 -0.055 . intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 5/6 rs370238593 1 NA C:0 C:0.0001 TGA G,C 0.0001318 14:92492165 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant 1.421153 0.18195 0.07808 0 0.756966757090219 0.293212 3.16711232181816e-06 FALSE 0.000215325 ENSE00000941296_007 ENSE00000941296 007 14 92958462 92958631 + 57 66 47 A C 92958522 1417 61 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGCAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492177 92492178 92492178 exon 4 0.0606060606060606 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGCAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 1086 489 0.881445993552562 0.995644242542239 0.9385451180474 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA -0.0544938158512704 0.0208320816288551 0.946547220414428 0.955375985158608 NA -0.0168308671112077 NA FALSE NA 0.313 0.883 rs45587635 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 rs45587635&COSM3999414&COSM3999413 1 C:0.0673 C:0.0303 C:0.0274 NA C:0.1796 C:0.0477 C:0.0501 C:0.0272 C:0.0491 GAA A,C 0.06 14:92492178 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 missense_variant 1.994733 0.98429 0.8422 0.516011 0.962869512580529 0 3.16711232181816e-06 FALSE 0.0599261 ENSE00000941296_008 ENSE00000941296 008 14 92958462 92958631 + 57 66 47 C T 92958530 1418 69 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAATAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492185 92492186 92492186 exon 12 0.181818181818182 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAATAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 57 60 0.85 0.85 0.85 1205 731 0.908911843162245 0.815850141888559 0.862380992525402 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0828303141227328 -0.110264126706123 -0.0270279662415875 -0.158962019024825 0.946547220414428 0.955375985158608 -0.096547220414428 -0.0929949926332062 0.00355222778122183 FALSE FALSE 1 2.915 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 1 NA ACA C,T 8.236e-06 14:92492186 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 synonymous_variant 1.458165 0.98883 0.94921 0.516011 0.7042530057207 0 3.16711232181816e-06 FALSE 4.06194e-06 ENSE00000941296_009 ENSE00000941296 009 14 92958462 92958631 + 57 66 47 C T 92958534 1419 73 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCTGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492189 92492190 92492190 exon 16 0.242424242424242 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCTGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 39 48 0.85 0.673823134641442 0.761911567320721 353 467 0.823465423910501 0.820236113781772 0.821850768846137 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0828303141227328 -0.286440992064681 -0.112474385493332 -0.154576047131612 0.946547220414428 0.955375985158608 -0.184635653093707 -0.133525216312472 0.0511104367812355 FALSE FALSE 0.998 2.268 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 COSM4053053&COSM4053052 1 NA CCG C,T 3.295e-05 14:92492190 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 missense_variant 8.238781 0.97711 0.90079 0.516011 0.999083327169912 0 3.16711232181816e-06 FALSE 6.90456e-05 ENSE00000941296_010 ENSE00000941296 010 14 92958462 92958631 + 57 66 47 G A 92958535 1420 74 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCAGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492190 92492191 92492191 exon 17 0.257575757575758 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCAGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 208 183 0.85 0.85 0.85 229 743 0.954700754426896 0.954196568772005 0.954448661599451 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0828303141227328 -0.110264126706123 0.0187609450230638 -0.0206155921413786 0.946547220414428 0.955375985158608 -0.096547220414428 -0.000927323559157422 0.0956198968552706 FALSE FALSE 0.989 1.207 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 1 NA CGG G,A 2.471e-05 14:92492191 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 missense_variant 5.807181 0.97558 0.7987 0.516011 0.999234815174083 0 3.16711232181816e-06 FALSE 1.62476e-05 ENSE00000941296_011 ENSE00000941296 011 14 92958462 92958631 + 57 66 47 G A 92958538 1421 77 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGAGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492193 92492194 92492194 exon 20 0.303030303030303 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGAGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 20 21 0.939220453433925 0.992710128821999 0.965965291127962 908 870 0.919626567033292 1 0.959813283516646 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 0.00639013931119203 0.0324460021158757 -0.0163132423705405 0.0251878390866164 0.946547220414428 0.955375985158608 0.0194180707135339 0.00443729835803791 0.0149807723554959 FALSE FALSE 1 9.255 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 rs372432200 1 NA A:0 A:0.0001 GGG G,A 8.236e-06 14:92492194 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 missense_variant 6.970599 0.99457 0.99245 0.516011 0.997606494344501 0 3.16711232181816e-06 FALSE 4.06128e-06 ENSE00000941296_012 ENSE00000941296 012 14 92958462 92958631 + 57 66 47 G T 92958539 1422 78 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGTCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492194 92492195 92492195 exon 21 0.318181818181818 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGTCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 53 25 0.85 0.85 0.85 NA NA NA NA NA 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0828303141227328 -0.110264126706123 NA NA 0.946547220414428 0.955375985158608 -0.096547220414428 NA NA NA FALSE 0 -2.946 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:92492195 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 synonymous_variant 0.964361 0.07667 0.01102 0.516011 0.606410074766458 0 3.16711232181816e-06 FALSE 0.000239617 ENSE00000941296_013 ENSE00000941296 013 14 92958462 92958631 + 57 66 47 G A 92958539 1423 78 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGACTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492194 92492195 92492195 exon 21 0.318181818181818 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGACTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 308 936 0.999233784770306 0.997773744533151 0.998503764651729 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA 0.0632939753664735 0.0229615836197674 0.946547220414428 0.955375985158608 NA 0.0431277794931205 NA FALSE NA 0 -2.946 NA NA NA SLC24A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A4 NA NA NA ENSG00000140090 ENSE00003601716 synonymous_variant 1.233675 0.09734 0.01582 0.516011 0.592539801504097 0 3.16711232181816e-06 FALSE 4.06131e-06 ENSE00000941296_014 ENSE00000941296 014 14 92958462 92958631 + 57 66 47 C G 92958540 1424 79 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGGTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492195 92492196 92492196 exon 22 0.333333333333333 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGGTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 303 119 0.0086690108259368 0 0.0043345054129684 82 144 0.0538561716918534 0.191187702564181 0.122521937128017 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.924161303296796 -0.960264126706123 -0.882083637711979 -0.783624458349202 0.946547220414428 0.955375985158608 -0.94221271500146 -0.832854048030591 0.109358666970869 TRUE TRUE 1 3.683 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 1 NA GCT C,G 8.236e-06 14:92492196 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 missense_variant 6.0088 0.98577 0.97209 0.516011 0.998676856842552 0 3.16711232181816e-06 FALSE 4.06128e-06 ENSE00000941296_015 ENSE00000941296 015 14 92958462 92958631 + 57 66 47 A G 92958547 1425 86 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTGTTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492202 92492203 92492203 exon 29 0.439393939393939 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTGTTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 32 31 0.958833468868245 0.994102498206715 0.97646798353748 820 596 0.988303038281071 0.991171689940435 0.989737364110753 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 0.0260031547455121 0.0338383715005922 0.052363228877239 0.0163595290270516 0.946547220414428 0.955375985158608 0.0299207631230521 0.0343613789521453 0.00444061582909316 FALSE FALSE 1 8.762 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 1 NA TAT A,G 1.647e-05 14:92492203 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 missense_variant 3.050134 0.99303 0.9924 0.516011 0.994809502550451 0 3.16711232181816e-06 FALSE 4.06098e-05 ENSE00000941296_016 ENSE00000941296 016 14 92958462 92958631 + 57 66 47 C T 92958551 1426 90 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCTGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492206 92492207 92492207 exon 33 0.5 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCTGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 111 186 0.85 0.85 0.85 846 12 0.802156493397405 0.85205227183284 0.827104382615123 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0828303141227328 -0.110264126706123 -0.133783316006427 -0.122759889080543 0.946547220414428 0.955375985158608 -0.096547220414428 -0.128271602543485 0.0317243821290571 FALSE FALSE 0 -3.393 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 1 NA CCG C,T 8.236e-06 14:92492207 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 synonymous_variant 2.266427 0.71445 0.04313 0.516011 0.747650645457303 0 3.16711232181816e-06 FALSE 1.62442e-05 ENSE00000941296_017 ENSE00000941296 017 14 92958462 92958631 + 57 66 47 G A 92958552 1427 91 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCATGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492207 92492208 92492208 exon -33 0.515151515151515 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCATGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 61 122 0.8853593098788 0.85 0.8676796549394 97 476 0.804972146245498 0.799063154856031 0.802017650550765 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0474710042439331 -0.110264126706123 -0.130967663158334 -0.175749006057352 0.946547220414428 0.955375985158608 -0.0788675654750282 -0.153358334607843 0.0744907691328152 FALSE FALSE 1 9.255 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 rs199781252 1 NA CGT G,A 5.765e-05 14:92492208 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 missense_variant 6.891569 0.99496 0.99271 0.516011 0.999151117957836 0 3.16711232181816e-06 FALSE 5.27953e-05 ENSE00000941296_018 ENSE00000941296 018 14 92958462 92958631 + 57 66 47 C T 92958569 1428 108 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGTTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492224 92492225 92492225 exon -16 0.772727272727273 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGTTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 23 19 1 1 1 NA NA NA NA NA 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 0.0671696858772672 0.0397358732938767 NA NA 0.946547220414428 0.955375985158608 0.053452779585572 NA NA NA FALSE 0.943 0.414 rs61744588 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 rs61744588 1 T:0.0250 T:0.0908 T:0.0072 NA T:0 T:0 T:0 T:0.0783 T:0 GCT C,T 0.007446 14:92492225 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 synonymous_variant 1.472145 0.97544 0.81446 0.516011 0.646782915401162 0 3.16711232181816e-06 FALSE 0.00562135 ENSE00000941296_019 ENSE00000941296 019 14 92958462 92958631 + 57 66 47 C G 92958575 1429 114 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTGGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492230 92492231 92492231 exon -10 0.863636363636364 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTGGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 60 35 0.840810184497119 0.85 0.845405092248559 526 297 0.0509436094256217 0.10339553785491 0.077169573640266 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0920201296256142 -0.110264126706123 -0.884996199978211 -0.871416623058473 0.946547220414428 0.955375985158608 -0.101142128165869 -0.878206411518342 0.777064283352473 TRUE FALSE 0 -4.933 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:92492231 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 synonymous_variant 0.610905 0.43039 0.01662 0.516011 0.640655419517852 0 3.16711232181816e-06 FALSE 4.06204e-05 ENSE00000941296_020 ENSE00000941296 020 14 92958462 92958631 + 57 66 47 C T 92958575 1430 114 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTTGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492230 92492231 92492231 exon -10 0.863636363636364 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTTGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 20 19 0.85 0.85 0.85 NA NA NA NA NA 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0828303141227328 -0.110264126706123 NA NA 0.946547220414428 0.955375985158608 -0.096547220414428 NA NA NA FALSE 0 -4.933 NA NA NA SLC24A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A4 NA NA NA ENSG00000140090 ENSE00003601716 synonymous_variant 1.196642 0.46533 0.03293 0.516011 0.708409006804074 0 3.16711232181816e-06 FALSE 8.12407e-06 ENSE00000941296_021 ENSE00000941296 021 14 92958462 92958631 + 57 66 47 G A 92958576 1431 115 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCACTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492231 92492232 92492232 exon -9 0.878787878787879 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCACTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 80 127 0.843117883020466 0.85 0.846558941510233 948 197 0.932700938601367 0.952178415703542 0.942439677152455 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0897124311022671 -0.110264126706123 -0.0032388708024651 -0.0226337452098418 0.946547220414428 0.955375985158608 -0.0999882789041952 -0.0129363080061535 0.0870519708980417 FALSE FALSE 0.004 1.76 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/7 1 NA CGC G,A 8.236e-06 14:92492232 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 missense_variant 1.494078 0.95722 0.42102 0.516011 0.975073076358421 0 3.16711232181816e-06 FALSE NA ENSE00000941296_022 ENSE00000941296 022 14 92958462 92958631 + 57 66 47 C T 92958584 1432 123 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACTGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492239 92492240 92492240 exon -1 1 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACTGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 692 2044 0.893814618188784 0.850921713004076 0.87236816559643 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA -0.0421251912150481 -0.123890447909308 0.946547220414428 0.955375985158608 NA -0.0830078195621779 NA FALSE NA 0 -2.778 rs139434074 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SLC24A4 HGNC 10978 ENST00000526482 6/7 rs139434074 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0018 T:0 CCG C,T 0.0001812 14:92492240 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 splice_region_variant -0.137148 0.32244 0.01403 0.497415 0.457337455773238 0 3.16711232181816e-06 FALSE 0.000154366 ENSE00000941296_023 ENSE00000941296 023 14 92958462 92958631 + 57 66 47 T C 92958592 1433 131 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCCTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492247 92492248 92492248 downstr_intron 8 1.17391304347826 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCCTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 37 35 0.835042232431021 0.85 0.842521116215511 1287 850 0.782494082109238 0.848006285665246 0.815250183887242 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0977880816917114 -0.110264126706123 -0.153445727294595 -0.126805875248137 0.946547220414428 0.955375985158608 -0.104026104198917 -0.140125801271366 0.0360996970724486 FALSE FALSE 0.003 0.798 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC24A4 HGNC 10978 ENST00000526482 6/6 1 NA CTT T,C 8.236e-06 14:92492248 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 splice_region_variant -0.428768 0.19 0.10075 0 0.317965637772316 0.169907 3.16711232181816e-06 FALSE 8.1355e-06 ENSE00000941296_024 ENSE00000941296 024 14 92958462 92958631 + 57 66 47 T C 92958593 1434 132 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTCTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492248 92492249 92492249 downstr_intron 9 1.19565217391304 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTCTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 32 24 0.966117515036134 0.934498391593096 0.950307953314615 1282 773 0.962619029327834 0.969029714414788 0.965824371871311 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 0.0332872009134011 -0.0257657351130277 0.0266792199240016 -0.00578244649859583 0.946547220414428 0.955375985158608 0.00376073290018669 0.0104483867127029 0.00668765381251618 FALSE FALSE 0.004 0.873 . intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/6 rs374731031 1 NA C:0 C:0.0001 TTT T,C 8.236e-06 14:92492249 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant -0.121111 0.18884 0.02154 0 0.250441783878529 0.155388 3.16711232181816e-06 FALSE 4.06312e-06 ENSE00000941296_025 ENSE00000941296 025 14 92958462 92958631 + 57 66 47 C T 92958596 1435 135 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTATAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492251 92492252 92492252 downstr_intron 12 1.26086956521739 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTATAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant 80 139 0.878469212787458 0.876543550313752 0.877506381550605 612 2049 0.949888526680192 0.959672069036453 0.954780297858322 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.0543611013352744 -0.0837205763923717 0.0139487172763593 -0.015140091876931 0.946547220414428 0.955375985158608 -0.0690408388638231 -0.000595687300285863 0.0684451515635372 FALSE FALSE 0 -1.453 . intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/6 1 NA ACA C,T 8.236e-06 14:92492252 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant -0.708821 0.13983 0.01663 0 0.688715265181466 0.155388 3.16711232181816e-06 FALSE 4.06303e-06 ENSE00000941296_026 ENSE00000941296 026 14 92958462 92958631 + 57 66 47 A G 92958603 1436 142 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCGAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 92492258 92492259 92492259 downstr_intron 19 1.41304347826087 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCGAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 552 366 0.966986814455225 0.970432520874615 0.96870966766492 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA 0.0310470050513926 -0.00437964003876834 0.946547220414428 0.955375985158608 NA 0.0133336825063121 NA FALSE NA 0 -3.654 . intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/6 1 NA CAA A,G 8.236e-06 14:92492259 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant 0.029607 0.15462 0.01831 0 0.325862477932983 0.155388 3.16711232181816e-06 FALSE 1.21907e-05 ENSE00000941296_027 ENSE00000941296 027 14 92958462 92958631 + 57 66 47 G A 92958612 1437 151 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATACCTCATGCATACTTGATTT 92492117 92492287 92492267 92492268 92492268 downstr_intron 28 1.60869565217391 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATACCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 730 747 0.994299211429051 0.969740455915142 0.982019833672097 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA 0.0583594020252184 -0.00507170499824117 0.946547220414428 0.955375985158608 NA 0.0266438485134886 NA FALSE NA 0 0.289 rs7150406 intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/6 rs7150406 1 A:0.2276 A:0.146 A:0.3314 NA A:0.1617 A:0.2565 A:0.3027 A:0.1539 A:0.2607 TGC G,A 0.253 14:92492268 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant -0.002025 0.18168 0.06665 0 0.86597721554376 0.0870774 3.16711232181816e-06 FALSE 0.258123 ENSE00000941296_028 ENSE00000941296 028 14 92958462 92958631 + 57 66 47 C T 92958616 1438 155 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTTATGCATACTTGATTT 92492117 92492287 92492271 92492272 92492272 downstr_intron 32 1.69565217391304 GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTTATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT mutant NA NA NA NA NA 576 1561 0.954274076615114 0.960170188074375 0.957222132344745 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 NA NA 0.0183342672112817 -0.0146419728390087 0.946547220414428 0.955375985158608 NA 0.00184614718613652 NA FALSE NA 0 -0.851 . intron_variant&non_coding_transcript_variant MODIFIER SLC24A4 HGNC 10978 ENST00000526482 6/6 1 NA TCA C,T 8.236e-06 14:92492272 SLC24A4 HGNC Symbol protein_coding 178902 ENSG00000140090 ENSE00003601716 intron_variant 0.270482 0.16761 0.00917 0 0.802408639995107 0.0870264 3.16711232181816e-06 FALSE 1.62758e-05 ENSE00000941296_BRK ENSE00000941296 BRK 14 92958462 92958631 + 57 66 47 A,G; T,T NA NA NA GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCTTGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCCCGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT 92492117 92492287 NA NA NA NA NA NA GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCTTGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCCCGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT GGATGGATTGGCTCTGAGCAGTCAAGAGACTCAGGGCACGTGTGTTTGATTTTCCAGGTGAAGATCAACAGCCGGGGGCTGGTCTATTCCGTGGTCCTGTTGCTGGGCTCTGTCGCTCTCACCGTGAGTCTTTACAATTCCAAAACAGATGCCTCATGCATACTTGATTT control 272 262 0 0.068668603136617 0.0343343015683085 NA NA NA NA NA 0.932830314122733 0.960264126706123 0.935939809403832 0.974812160913384 -0.932830314122733 -0.891595523569506 NA NA 0.946547220414428 0.955375985158608 -0.912212918846119 NA NA NA TRUE NA NA NA NA NA SLC24A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A4 NA NA NA ENSG00000140090 ENSE00003601716 NA NA NA NA NA NA NA 3.16711232181816e-06 FALSE NA ENSE00000942056_000 ENSE00000942056 000 15 52615517 52615686 - 35 90 45 NA NA NA NA NA ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 NA NA NA NA NA NA ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT natural 31 107 0.85 0.819111014389484 0.834555507194742 6854 3945 0.974239669817842 0.973618932621672 0.973929301219757 0.85 0.819111014389484 0.974239669817842 0.973618932621672 0 0 0 0 0.834555507194742 0.973929301219757 0 0 0 FALSE FALSE NA NA NA NA NA MYO5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO5A NA NA NA ENSG00000197535 ENSE00000942056 NA NA NA NA NA NA NA 0.992129667219065 TRUE NA ENSE00000942056_002 ENSE00000942056 002 15 52615517 52615686 - 35 90 45 T G 52615544 1008 143 ATAGCATGCTGGTTTTGTAATCAAGGTGTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323346 52323347 52323347 downstr_intron 8 1.23529411764706 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAACACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 411 36 0.842816608278825 1 0.921408304139413 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA -0.131423061539017 0.0263810673783278 0.834555507194742 0.973929301219757 NA -0.0525209970803446 NA FALSE NA 0.664 0.707 . splice_region_variant&intron_variant LOW MYO5A HGNC 7602 ENST00000399229 7/11 rs201636593 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TTT T,G 8.278e-06 15:52323347 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 splice_region_variant 0.931825 0.28489 0.27104 0.163922 0.590737216994395 0.41116 0.992129667219065 TRUE NA ENSE00000942056_003 ENSE00000942056 003 15 52615517 52615686 - 35 90 45 T G 52615548 1009 139 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCGCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323350 52323351 52323351 downstr_intron 4 1.11764705882353 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGCGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 214 121 0.00179206529018085 0 0.000896032645090424 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA -0.972447604527661 -0.973618932621672 0.834555507194742 0.973929301219757 NA -0.973033268574667 NA TRUE NA 1 4.808 . splice_region_variant&intron_variant LOW MYO5A HGNC 7602 ENST00000399229 7/11 1 NA CTC T,G 8.277e-06 15:52323351 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 splice_region_variant 1.92172 0.9914 0.9654 0.163922 0.975222107307528 0.896163 0.992129667219065 TRUE 8.12374e-06 ENSE00000942056_004 ENSE00000942056 004 15 52615517 52615686 - 35 90 45 T C 52615558 1010 129 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCCCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323360 52323361 52323361 exon -7 0.933333333333333 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGGGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant 16 21 0 0 0 161 288 0.907911691102385 0.8 0.853955845551192 0.85 0.819111014389484 0.974239669817842 0.973618932621672 -0.85 -0.819111014389484 -0.0663279787154576 -0.173618932621672 0.834555507194742 0.973929301219757 -0.834555507194742 -0.119973455668565 0.714582051526177 FALSE TRUE 1 0.722 . synonymous_variant LOW MYO5A HGNC 7602 ENST00000399229 7/12 1 NA CTC T,C 1.655e-05 15:52323361 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 synonymous_variant 0.278243 0.98239 0.8959 0.732398 0.754453209187691 0 0.992129667219065 TRUE 8.12321e-06 ENSE00000942056_005 ENSE00000942056 005 15 52615517 52615686 - 35 90 45 C T 52615562 1011 125 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCATTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323364 52323365 52323365 exon -11 0.888888888888889 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAATGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 2269 966 0.851896099616362 0.995234504479022 0.923565302047692 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA -0.12234357020148 0.0216155718573494 0.834555507194742 0.973929301219757 NA -0.0503639991720652 NA FALSE NA 1 7.82 . missense_variant MODERATE MYO5A HGNC 7602 ENST00000399229 7/12 1 deleterious(0) probably_damaging(0.996) NA ACT C,T 8.277e-06 15:52323365 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 missense_variant 7.206984 0.99642 0.99197 0.732398 0.997732184482245 0 0.992129667219065 TRUE 8.12301e-06 ENSE00000942056_009 ENSE00000942056 009 15 52615517 52615686 - 35 90 45 G C 52615601 1015 86 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTACAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323403 52323404 52323404 exon 41 0.455555555555556 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTGTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 302 2526 0.977917403069786 0.975476387515877 0.976696895292831 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA 0.00367773325194376 0.0018574548942043 0.834555507194742 0.973929301219757 NA 0.00276759407307403 NA FALSE NA 1 9.873 . missense_variant MODERATE MYO5A HGNC 7602 ENST00000399229 7/12 1 deleterious(0) possibly_damaging(0.73) NA AGA G,C 8.277e-06 15:52323404 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 missense_variant 6.35556 0.99667 0.99613 0.732398 0.992637075322803 0 0.992129667219065 TRUE 8.12301e-06 ENSE00000942056_010 ENSE00000942056 010 15 52615517 52615686 - 35 90 45 G C 52615603 1016 84 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGACAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323405 52323406 52323406 exon 39 0.433333333333333 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTGTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 120 1728 0.931107890265534 0.986892773564787 0.95900033191516 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA -0.0431317795523085 0.0132738409431145 0.834555507194742 0.973929301219757 NA -0.014928969304597 NA FALSE NA 0.309 -0.247 . synonymous_variant LOW MYO5A HGNC 7602 ENST00000399229 7/12 1 NA AGA G,C 8.277e-06 15:52323406 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 synonymous_variant 1.123522 0.97583 0.29953 0.732398 0.760649067968621 0 0.992129667219065 TRUE 1.21849e-05 ENSE00000942056_012 ENSE00000942056 012 15 52615517 52615686 - 35 90 45 C T 52615617 1018 70 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGATGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323419 52323420 52323420 exon 25 0.277777777777778 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCATCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 2156 254 0.800835947737715 0.801562784815215 0.801199366276465 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA -0.173403722080127 -0.172056147806457 0.834555507194742 0.973929301219757 NA -0.172729934943292 NA FALSE NA 1 7.731 . missense_variant MODERATE MYO5A HGNC 7602 ENST00000399229 7/12 rs200780801 1 tolerated(0.27) benign(0.018) NA T:0 T:0.0004 ACG C,T 4.967e-05 15:52323420 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 missense_variant 4.01737 0.99693 0.99809 0.732398 0.997417518376801 0 0.992129667219065 TRUE 7.31131e-05 ENSE00000942056_014 ENSE00000942056 014 15 52615517 52615686 - 35 90 45 G C 52615650 1020 37 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGACAGAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323452 52323453 52323453 upstr_intron -9 -0.177777777777778 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTGTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 2018 64 0.921751645215006 0.959367549331473 0.940559597273239 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA -0.0524880246028366 -0.0142513832901988 0.834555507194742 0.973929301219757 NA -0.0333697039465177 NA FALSE NA 0.997 0.171 . intron_variant MODIFIER MYO5A HGNC 7602 ENST00000399229 6/11 1 NA AGA G,C 8.279e-06 15:52323453 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 non_coding_transcript_exon_variant 1.998258 0.95305 0.33412 0.099367 0.708012150778025 0.345757 0.992129667219065 TRUE 4.06812e-06 ENSE00000942056_015 ENSE00000942056 015 15 52615517 52615686 - 35 90 45 G C 52615652 1021 35 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGACAATAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323454 52323455 52323455 upstr_intron -11 -0.222222222222222 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTGTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 965 2425 0.810420986161331 0.8 0.805210493080666 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA -0.163818683656511 -0.173618932621672 0.834555507194742 0.973929301219757 NA -0.168718808139091 NA FALSE NA 1 0.727 . intron_variant MODIFIER MYO5A HGNC 7602 ENST00000399229 6/11 1 NA AGA G,C 2.484e-05 15:52323455 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 non_coding_transcript_exon_variant 1.852246 0.94799 0.91013 0.099367 0.721447827198746 0.348103 0.992129667219065 TRUE 1.22086e-05 ENSE00000942056_016 ENSE00000942056 016 15 52615517 52615686 - 35 90 45 T C 52615655 1022 32 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAACAAGTCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323457 52323458 52323458 upstr_intron -14 -0.288888888888889 ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTGTTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 137 332 0.991273551866079 0.991040475877959 0.991157013872019 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA 0.0170338820482373 0.0174215432562872 0.834555507194742 0.973929301219757 NA 0.0172277126522623 NA FALSE NA 0 -1.576 . intron_variant MODIFIER MYO5A HGNC 7602 ENST00000399229 6/11 1 NA ATA T,C 8.279e-06 15:52323458 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 non_coding_transcript_exon_variant 1.249525 0.17562 0.06794 0.099367 0.555847275994462 0.304426 0.992129667219065 TRUE 4.07103e-06 ENSE00000942056_017 ENSE00000942056 017 15 52615517 52615686 - 35 90 45 T C 52615659 1023 28 ATAGCATGCTGGTTTTGTAATCAAGGTTTTCTCACCTCTTCTCCACTGTACTGTTTCAAGCAGTGCAAAAATCGGCATGTGTTAGAGAGCCAGAAGGAGACGGTTTCAAAATCATCACCTCTTTTCTGAAAGAGAGAATAAGCCTAAACTTGCCTTTTCCTTAGGGAAAT 52323319 52323489 52323461 52323462 52323462 upstr_intron -18 -0.377777777777778 ATTTCCCTAAGGAAAAGGCAAGTTTAGGCTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT ATTTCCCTAAGGAAAAGGCAAGTTTAGACTTATTCTCTCTTTCAGAAAAGAGGTGATGATTTTGAAACCGTCTCCTTCTGGCTCTCTAACACATGCCGATTTTTGCACTGCTTGAAACAGTACAGTGGAGAAGAGGTGAGAAAACCTTGATTACAAAACCAGCATGCTAT mutant NA NA NA NA NA 355 1200 0.807789039103583 0.614692051200532 0.711240545152058 0.85 0.819111014389484 0.974239669817842 0.973618932621672 NA NA -0.166450630714259 -0.35892688142114 0.834555507194742 0.973929301219757 NA -0.2626887560677 NA FALSE NA 0 0.175 . intron_variant MODIFIER MYO5A HGNC 7602 ENST00000399229 6/11 1 NA GTC T,C 8.279e-06 15:52323462 MYO5A HGNC Symbol protein_coding 221767 ENSG00000197535 ENSE00000942056 non_coding_transcript_exon_variant 1.125658 0.16292 0.01616 0.099367 0.743518933772581 0.230005 0.992129667219065 TRUE 4.07654e-06 ENSE00000942456_000 ENSE00000942456 000 15 40324890 40325059 + 68 45 57 NA NA NA NA NA CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACAGGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGGTAAGCAATATGAACTCTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT 40032688 40032858 NA NA NA NA NA NA CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACAGGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGGTAAGCAATATGAACTCTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACAGGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGGTAAGCAATATGAACTCTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT natural 548 781 0.823548348859688 0.837240073250477 0.830394211055082 1681 340 0.68607981335453 0.634928131506042 0.660503972430286 0.823548348859688 0.837240073250477 0.68607981335453 0.634928131506042 0 0 0 0 0.830394211055082 0.660503972430286 0 0 0 FALSE FALSE NA NA NA NA NA SRP14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF2AK4 NA NA NA ENSG00000128829 ENSE00003693480 NA NA NA NA NA NA NA 8.32742943473465e-10 FALSE NA ENSE00000942456_013 ENSE00000942456 013 15 40324890 40325059 + 68 45 57 C T 40325019 371 130 CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACAGGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGGTAAGCAATATGAACTTTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT 40032688 40032858 40032817 40032818 40032818 downstr_intron 17 1.30357142857143 CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACAGGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGGTAAGCAATATGAACTTTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACAGGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGGTAAGCAATATGAACTCTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT mutant 54 69 0.85 0.85 0.85 72 127 0.8 0.869440274744587 0.834720137372294 0.823548348859688 0.837240073250477 0.68607981335453 0.634928131506042 0.0264516511403117 0.0127599267495234 0.11392018664547 0.234512143238545 0.830394211055082 0.660503972430286 0.0196057889449175 0.174216164942007 0.15461037599709 FALSE FALSE 0 -0.78 . downstream_gene_variant MODIFIER SRP14 HGNC 11299 ENST00000559439 rs576650283 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C,T 2.483e-05 15:40032818 EIF2AK4 HGNC Symbol protein_coding 101445 ENSG00000128829 ENSE00003693480 intron_variant 1.965345 0.19123 0.04986 0.106106 0.81191648968717 0.275636 8.32742943473465e-10 FALSE 1.24461e-05 ENSE00000942456_BRK ENSE00000942456 BRK 15 40324890 40325059 + 68 45 57 A,G; T,T NA NA NA CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACTTGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGCCAAGCAATATGAACTCTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT 40032688 40032858 NA NA NA NA NA NA CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACTTGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGCCAAGCAATATGAACTCTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT CGTGACACTATGGTCACAAGGCAGTATTGTGCTGCTGAGAGTTGATGTACATTTGTGTGTATTCACAGGTGGATCTACCCAAAGAAACAATATTACAGTTTTTATCATTAGAGGTAAGCAATATGAACTCTTCTGCACTGTGGCCTTTAAGATCCCAAATCTTTGCTATT control 31 102 0.813807823679942 0.85 0.831903911839971 NA NA NA NA NA 0.823548348859688 0.837240073250477 0.68607981335453 0.634928131506042 -0.00974052517974588 0.0127599267495235 NA NA 0.830394211055082 0.660503972430286 0.00150970078488882 NA NA NA FALSE NA NA NA NA NA SRP14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF2AK4 NA NA NA ENSG00000128829 ENSE00003693480 NA NA NA NA NA NA NA 8.32742943473465e-10 FALSE NA ENSE00000942477_000 ENSE00000942477 000 15 43109183 43109352 - 47 66 57 NA NA NA NA NA GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 NA NA NA NA NA NA GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT natural 138 132 0.991234836216517 0.991144902061291 0.991189869138904 8108 8217 0.892970313815184 0.815027505693566 0.853998909754375 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 0 0 0 0 0.991189869138904 0.853998909754375 0 0 0 FALSE FALSE NA NA NA NA NA TTBK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTBK2 NA NA NA ENSG00000128881 ENSE00000942477 NA NA NA NA NA NA NA 0.996929374509573 TRUE NA ENSE00000942477_002 ENSE00000942477 002 15 43109183 43109352 - 47 66 57 C G 43109202 755 151 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTCTATAAGTATGCTAATAGCT 42816984 42817154 42817003 42817004 42817004 downstr_intron 28 1.60869565217391 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTCTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 44 101 0.966327981059893 0.987461217468643 0.976894599264268 NA NA NA NA NA 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 -0.0249068551566244 -0.00368368459264867 NA NA 0.991189869138904 0.853998909754375 -0.0142952698746365 NA NA NA FALSE 0 -0.464 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 6/10 rs373140373 1 NA G:0 G:0.0001 ACA C,G 2.482e-05 15:42817004 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 0.04355 0.2488 0.0932 0.078448 0.411466109042551 0.101332 0.996929374509573 TRUE 2.05455e-05 ENSE00000942477_003 ENSE00000942477 003 15 43109183 43109352 - 47 66 57 T C 43109206 756 147 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATGTCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817007 42817008 42817008 downstr_intron 24 1.52173913043478 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATGTCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 833 196 0.997548595253918 1 0.998774297626959 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.104578281438734 0.184972494306434 0.991189869138904 0.853998909754375 NA 0.144775387872584 NA FALSE NA 0 -0.17 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 6/10 1 NA ATA T,C 4.964e-05 15:42817008 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant -0.035859 0.22163 0.03579 0.078448 0.389930567203765 0.101388 0.996929374509573 TRUE 3.67116e-05 ENSE00000942477_004 ENSE00000942477 004 15 43109183 43109352 - 47 66 57 A G 43109207 757 146 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCACATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817008 42817009 42817009 downstr_intron 23 1.5 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCACATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 1226 801 0.998988608469644 0.997136757362559 0.998062682916101 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.106018294654461 0.182109251668993 0.991189869138904 0.853998909754375 NA 0.144063773161727 NA FALSE NA 0 0.078 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 6/10 1 NA TAT A,G 1.655e-05 15:42817009 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 0.136498 0.25355 0.04248 0.078448 0.385302483958193 0.101388 0.996929374509573 TRUE 8.15288e-06 ENSE00000942477_005 ENSE00000942477 005 15 43109183 43109352 - 47 66 57 T C 43109208 758 145 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCGTATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817009 42817010 42817010 downstr_intron 22 1.47826086956522 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCGTATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 293 494 1 0.997971516479104 0.998985758239552 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.107029686184816 0.182944010785538 0.991189869138904 0.853998909754375 NA 0.144986848485177 NA FALSE NA 0 -1.677 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 6/10 1 NA ATG T,C 4.964e-05 15:42817010 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 0.013939 0.19484 0.0107 0.078448 0.361794474032739 0.101388 0.996929374509573 TRUE 2.44684e-05 ENSE00000942477_006 ENSE00000942477 006 15 43109183 43109352 - 47 66 57 G T 43109209 759 144 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTAATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817010 42817011 42817011 downstr_intron 21 1.45652173913043 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTAATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 778 1159 0.993430618263661 0.99428425568374 0.9938574369737 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.100460304448477 0.179256749990174 0.991189869138904 0.853998909754375 NA 0.139858527219326 NA FALSE NA 0 0.362 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 6/10 1 NA TGA G,T 8.274e-06 15:42817011 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant -0.10826 0.24805 0.23244 0.078448 0.650008090427692 0.101388 0.996929374509573 TRUE 2.03953e-05 ENSE00000942477_007 ENSE00000942477 007 15 43109183 43109352 - 47 66 57 C G 43109213 760 140 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTACAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817014 42817015 42817015 downstr_intron 17 1.3695652173913 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTACAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 3444 216 0.978127297962296 0.999646842530013 0.988887070246155 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.0851569841471128 0.184619336836447 0.991189869138904 0.853998909754375 NA 0.13488816049178 NA FALSE NA 0 -0.924 rs115190236 intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 6/10 rs115190236 1 G:0.0146 G:0.053 G:0.0043 NA G:0 G:0 G:0 G:0.037 G:0.0005 TCT C,G 0.003574 15:42817015 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant -0.019775 0.23672 0.12749 0.078448 0.398573889601106 0.101388 0.996929374509573 TRUE 0.00289943 ENSE00000942477_008 ENSE00000942477 008 15 43109183 43109352 - 47 66 57 G A 43109221 761 132 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATTTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817022 42817023 42817023 downstr_intron 9 1.19565217391304 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATTTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 11 16 1 0.999663720058798 0.999831860029399 1240 1106 1 0.992897578690071 0.996448789345036 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 0.00876516378348258 0.00851881799750709 0.107029686184816 0.177870072996505 0.991189869138904 0.853998909754375 0.00864199089049483 0.142449879590661 0.133807888700166 FALSE FALSE 0.807 1.501 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 6/10 1 NA AGA G,A 1.655e-05 15:42817023 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 1.842693 0.97095 0.71534 0.162113 0.765114089316662 0.318301 0.996929374509573 TRUE 8.13087e-06 ENSE00000942477_009 ENSE00000942477 009 15 43109183 43109352 - 47 66 57 T C 43109227 762 126 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTGGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817028 42817029 42817029 downstr_intron 3 1.06521739130435 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTGGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 94 82 0.826317620497688 0.85 0.838158810248844 1389 66 0.94908436954402 0.919476330510277 0.934280350027148 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 -0.16491721571883 -0.141144902061291 0.0561140557288359 0.104448824816711 0.991189869138904 0.853998909754375 -0.153031058890061 0.0802814402727733 0.233312499162834 FALSE FALSE 1 3.243 . splice_region_variant&intron_variant LOW TTBK2 HGNC 19141 ENST00000567274 6/10 1 NA CTA T,C 8.273e-06 15:42817029 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 splice_region_variant 1.752131 0.98505 0.86449 0.162113 0.906653059025313 0.854449 0.996929374509573 TRUE 4.06303e-06 ENSE00000942477_011 ENSE00000942477 011 15 43109183 43109352 - 47 66 57 C T 43109237 764 116 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCAGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817038 42817039 42817039 exon -8 0.893939393939394 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCAGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 538 1223 0.995920982889424 0.990189001301425 0.993054992095425 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.102950669074241 0.17516149560786 0.991189869138904 0.853998909754375 NA 0.13905608234105 NA FALSE NA 1 5.431 . missense_variant MODERATE TTBK2 HGNC 19141 ENST00000567274 6/11 1 tolerated(0.13) benign(0.024) NA CCG C,T 2.482e-05 15:42817039 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 missense_variant 7.858117 0.99257 0.91315 0.615465 0.998491092449859 0 0.996929374509573 TRUE 1.62501e-05 ENSE00000942477_012 ENSE00000942477 012 15 43109183 43109352 - 47 66 57 G A 43109238 765 115 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATTGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817039 42817040 42817040 exon -9 0.878787878787879 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATTGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 1468 1571 0.864637129800939 0.984815705200889 0.924726417500914 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA -0.0283331840142449 0.169788199507323 0.991189869138904 0.853998909754375 NA 0.0707275077465392 NA FALSE NA 1 3.031 . missense_variant MODERATE TTBK2 HGNC 19141 ENST00000567274 6/11 rs200125366 1 deleterious(0.03) probably_damaging(0.913) NA A:0 A:0.0002 CGA G,A 0.0002317 15:42817040 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 missense_variant 6.87089 0.98352 0.8926 0.615465 0.997879417299127 0 0.996929374509573 TRUE 0.000215349 ENSE00000942477_013 ENSE00000942477 013 15 43109183 43109352 - 47 66 57 C T 43109244 766 109 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACACACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817045 42817046 42817046 exon -15 0.787878787878788 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACACACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 1584 337 0.970024001910116 0.992913510504175 0.981468756207145 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.0770536880949318 0.177886004810609 0.991189869138904 0.853998909754375 NA 0.127469846452771 NA FALSE NA 1 7.58 . missense_variant MODERATE TTBK2 HGNC 19141 ENST00000567274 6/11 rs367612243 1 deleterious(0.02) probably_damaging(0.975) NA T:0 T:0.0001 GCG C,T 6.618e-05 15:42817046 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 missense_variant 7.975345 0.99681 0.98845 0.615465 0.999433775713674 0 0.996929374509573 TRUE 5.28223e-05 ENSE00000942477_014 ENSE00000942477 014 15 43109183 43109352 - 47 66 57 T C 43109246 767 107 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAGCGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817047 42817048 42817048 exon -17 0.757575757575758 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAGCGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 157 811 0.981151953849271 0.966714876506798 0.973933415178035 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.0881816400340877 0.151687370813232 0.991189869138904 0.853998909754375 NA 0.11993450542366 NA FALSE NA 1 7.796 . missense_variant MODERATE TTBK2 HGNC 19141 ENST00000567274 6/11 1 tolerated(0.06) benign(0.396) NA GTT T,C 8.273e-06 15:42817048 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 missense_variant 5.526333 0.99548 0.98705 0.615465 0.994361084017365 0 0.996929374509573 TRUE 8.12513e-06 ENSE00000942477_015 ENSE00000942477 015 15 43109183 43109352 - 47 66 57 G T 43109248 768 105 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATAAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817049 42817050 42817050 exon -19 0.727272727272727 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATAAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 50 46 0.769247408786015 0.85 0.809623704393007 NA NA NA NA NA 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 -0.221987427430503 -0.141144902061291 NA NA 0.991189869138904 0.853998909754375 -0.181566164745897 NA NA NA FALSE 1 2.613 . synonymous_variant LOW TTBK2 HGNC 19141 ENST00000567274 6/11 rs549903646 1 T:0.0006 T:0.0015 T:0.0014 NA T:0 T:0 T:0 TGA G,T 4.963e-05 15:42817050 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 synonymous_variant 1.33656 0.98236 0.92611 0.615465 0.769080691141941 0 0.996929374509573 TRUE 5.28168e-05 ENSE00000942477_016 ENSE00000942477 016 15 43109183 43109352 - 47 66 57 T C 43109250 769 103 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAGTCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817051 42817052 42817052 exon -21 0.696969696969697 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAGTCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 2747 461 0.996087334922849 0.99364488348428 0.994866109203565 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.103117021107666 0.178617377790714 0.991189869138904 0.853998909754375 NA 0.14086719944919 NA FALSE NA 0 -0.292 . missense_variant MODERATE TTBK2 HGNC 19141 ENST00000567274 6/11 1 tolerated(1) benign(0.003) NA ATT T,C 2.482e-05 15:42817052 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 missense_variant -0.802504 0.7376 0.06365 0.615465 0.628065063097607 0 0.996929374509573 TRUE 1.21887e-05 ENSE00000942477_017 ENSE00000942477 017 15 43109183 43109352 - 47 66 57 T C 43109254 770 99 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCGTCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817055 42817056 42817056 exon -25 0.636363636363636 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCGTCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 1076 22 0.968959700242977 0.99274226352378 0.980850981883378 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.0759893864277931 0.177714757830214 0.991189869138904 0.853998909754375 NA 0.126852072129004 NA FALSE NA 0.976 0.108 . synonymous_variant LOW TTBK2 HGNC 19141 ENST00000567274 6/11 1 NA ATG T,C 8.272e-06 15:42817056 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 synonymous_variant 1.064648 0.97887 0.82137 0.615465 0.670218021609107 0 0.996929374509573 TRUE 4.06339e-06 ENSE00000942477_018 ENSE00000942477 018 15 43109183 43109352 - 47 66 57 G A 43109262 771 91 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTTGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817063 42817064 42817064 exon -33 0.515151515151515 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTTGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 43 48 0.85 0.85 0.85 771 1811 0.959992905971081 0.962583896832511 0.961288401401796 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 -0.141234836216517 -0.141144902061291 0.0670225921558977 0.147556391138945 0.991189869138904 0.853998909754375 -0.141189869138904 0.107289491647421 0.248479360786326 FALSE FALSE 1 7.572 . missense_variant MODERATE TTBK2 HGNC 19141 ENST00000567274 6/11 rs563297091&COSM470657&COSM961861 1 deleterious(0) probably_damaging(0.999) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGA G,A 1.654e-05 15:42817064 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 missense_variant 7.860499 0.99427 0.9845 0.706298 0.99942799558116 0 0.996929374509573 TRUE 8.15029e-06 ENSE00000942477_019 ENSE00000942477 019 15 43109183 43109352 - 47 66 57 C T 43109265 772 88 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAATTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817066 42817067 42817067 exon 31 0.46969696969697 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAATTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 2215 486 0.977793738301408 0.981460975586792 0.9796273569441 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.0848234244862239 0.166433469893226 0.991189869138904 0.853998909754375 NA 0.125628447189725 NA FALSE NA 1 7.58 . missense_variant MODERATE TTBK2 HGNC 19141 ENST00000567274 6/11 1 tolerated(0.07) possibly_damaging(0.644) NA ACT C,T 8.271e-06 15:42817067 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 missense_variant 6.857627 0.99681 0.98845 0.615465 0.998886670959299 0 0.996929374509573 TRUE 1.62582e-05 ENSE00000942477_020 ENSE00000942477 020 15 43109183 43109352 - 47 66 57 T C 43109266 773 87 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACGGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817067 42817068 42817068 exon 30 0.454545454545455 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACGGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 595 268 0.859645939555032 0.997841100429671 0.928743519992351 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA -0.0333243742601514 0.182813594736105 0.991189869138904 0.853998909754375 NA 0.0747446102379767 NA FALSE NA 0 -1.778 . synonymous_variant LOW TTBK2 HGNC 19141 ENST00000567274 6/11 1 NA CTG T,C 3.309e-05 15:42817068 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 synonymous_variant 0.72551 0.86648 0.1037 0.615465 0.553750488465661 0 0.996929374509573 TRUE 4.07458e-05 ENSE00000942477_021 ENSE00000942477 021 15 43109183 43109352 - 47 66 57 T C 43109281 774 72 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCGGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817082 42817083 42817083 exon 15 0.227272727272727 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCGGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 1152 296 0.999159984495458 0.997637364841244 0.998398674668351 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.106189670680275 0.182609859147678 0.991189869138904 0.853998909754375 NA 0.144399764913976 NA FALSE NA 1 0.497 . synonymous_variant LOW TTBK2 HGNC 19141 ENST00000567274 6/11 1 NA CTG T,C 8.271e-06 15:42817083 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 synonymous_variant 0.844008 0.97995 0.8281 0.615465 0.604482351520711 0 0.996929374509573 TRUE 4.06719e-06 ENSE00000942477_023 ENSE00000942477 023 15 43109183 43109352 - 47 66 57 C A 43109289 776 64 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGATCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817090 42817091 42817091 exon 7 0.106060606060606 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGATCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 1991 526 0.989073664052012 0.991545034153895 0.990309349102954 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.0961033502368285 0.176517528460329 0.991189869138904 0.853998909754375 NA 0.136310439348579 NA FALSE NA 0.912 1.998 . missense_variant MODERATE TTBK2 HGNC 19141 ENST00000567274 6/11 1 tolerated(0.74) benign(0.004) NA GCT C,A 8.271e-06 15:42817091 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 missense_variant 2.34576 0.98435 0.89588 0.615465 0.918013436450766 0 0.996929374509573 TRUE 4.06974e-06 ENSE00000942477_026 ENSE00000942477 026 15 43109183 43109352 - 47 66 57 G A 43109306 779 47 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGTTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817107 42817108 42817108 upstr_intron -11 -0.175438596491228 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGTTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 32 34 0.971540520616084 0.985151676207678 0.978346098411881 NA NA NA NA NA 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 -0.0196943156004332 -0.00599322585361384 NA NA 0.991189869138904 0.853998909754375 -0.0128437707270235 NA NA NA FALSE 0.241 3.784 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 5/10 rs565856793 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGC G,A 8.272e-06 15:42817108 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 2.287427 0.97646 0.10659 0.053691 0.813953135598341 0.36404 0.996929374509573 TRUE 4.08357e-06 ENSE00000942477_027 ENSE00000942477 027 15 43109183 43109352 - 47 66 57 T C 43109310 780 43 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCGTGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817111 42817112 42817112 upstr_intron -15 -0.245614035087719 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCGTGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 153 592 1 0.982642357270733 0.991321178635367 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.107029686184816 0.167614851577167 0.991189869138904 0.853998909754375 NA 0.137322268880992 NA FALSE NA 0.785 1.107 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:42817112 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 1.108575 0.94925 0.49775 0.053691 0.657557147086892 0.217063 0.996929374509573 TRUE 5.72283e-05 ENSE00000942477_028 ENSE00000942477 028 15 43109183 43109352 - 47 66 57 T A 43109310 781 43 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCTTGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817111 42817112 42817112 upstr_intron -15 -0.245614035087719 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCTTGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 13 11 0.997104629877178 1 0.998552314938589 NA NA NA NA NA 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 0.00586979366066065 0.00885509793870864 NA NA 0.991189869138904 0.853998909754375 0.00736244579968465 NA NA NA FALSE 0.785 1.107 NA NA NA TTBK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTBK2 NA NA NA ENSG00000128881 ENSE00000942477 intron_variant 1.368317 0.90259 0.03505 0.053691 0.737732730836689 0.217063 0.996929374509573 TRUE 4.08774e-06 ENSE00000942477_029 ENSE00000942477 029 15 43109183 43109352 - 47 66 57 C A 43109312 782 41 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTTCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817113 42817114 42817114 upstr_intron -17 -0.280701754385965 GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTTCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 13 19 0.999327577040736 0.968950989550195 0.984139283295465 NA NA NA NA NA 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 0.00809274082421885 -0.0221939125110968 NA NA 0.991189869138904 0.853998909754375 -0.00705058584343898 NA NA NA FALSE 0.146 -0.66 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 5/10 TMP_ESP_15_43109312_43109312 1 NA -:0.0003 -:0 GCA C,A 1.654e-05 15:42817114 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 0.551011 0.21683 0.03766 0.053691 0.757170643428987 0.11539 0.996929374509573 TRUE 1.63785e-05 ENSE00000942477_030 ENSE00000942477 030 15 43109183 43109352 - 47 66 57 T C 43109326 783 27 GCTGAATGTATTGCTGTTTGAAGCTCGTTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817127 42817128 42817128 upstr_intron -31 -0.526315789473684 GCTGAATGTATTGCTGTTTGAAGCTCGTTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 60 108 0.840810184497119 0.85 0.845405092248559 1842 518 0.929199412433934 0.903283737368647 0.91624157490129 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 -0.150424651719399 -0.141144902061291 0.0362290986187499 0.0882562316750812 0.991189869138904 0.853998909754375 -0.145784776890345 0.0622426651469156 0.208027442037261 FALSE FALSE 0 -0.012 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 5/10 1 NA ATG T,C 8.272e-06 15:42817128 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 0.078742 0.26369 0.07946 0.053691 0.445827252685557 0.103492 0.996929374509573 TRUE NA ENSE00000942477_031 ENSE00000942477 031 15 43109183 43109352 - 47 66 57 G A 43109327 784 26 GCTGAATGTATTGCTGTTTGAAGCTTATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817128 42817129 42817129 upstr_intron -32 -0.543859649122807 GCTGAATGTATTGCTGTTTGAAGCTTATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 1711 1050 0.966914310044693 0.979673937144082 0.973294123594387 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.0739439962295094 0.164646431450516 0.991189869138904 0.853998909754375 NA 0.119295213840013 NA FALSE NA 0 -0.485 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 5/10 1 NA TGA G,A 8.272e-06 15:42817129 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant -0.027286 0.14937 0.03428 0.053691 0.794067443371694 0.103492 0.996929374509573 TRUE 4.13339e-06 ENSE00000942477_032 ENSE00000942477 032 15 43109183 43109352 - 47 66 57 C T 43109330 785 23 GCTGAATGTATTGCTGTTTGAAACTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817131 42817132 42817132 upstr_intron -35 -0.596491228070175 GCTGAATGTATTGCTGTTTGAAACTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 32 13 1 0.99778625691577 0.998893128457885 1053 406 0.990555603049199 0.986556373078701 0.98855598806395 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 0.00876516378348258 0.0066413548544787 0.0975852892340153 0.171528867385135 0.991189869138904 0.853998909754375 0.00770325931898064 0.134557078309575 0.126853818990595 FALSE FALSE 0.002 0.356 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 5/10 1 NA GCT C,T 2.482e-05 15:42817132 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant -0.00808 0.21054 0.03083 0.053691 0.858907096055001 0.11539 0.996929374509573 TRUE 2.91286e-05 ENSE00000942477_033 ENSE00000942477 033 15 43109183 43109352 - 47 66 57 C G 43109337 786 16 GCTGAATGTATTGCTCTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817138 42817139 42817139 upstr_intron -42 -0.719298245614035 GCTGAATGTATTGCTCTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant NA NA NA NA NA 1652 2348 0.999450659900515 0.999332683984746 0.99939167194263 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 NA NA 0.106480346085331 0.18430517829118 0.991189869138904 0.853998909754375 NA 0.145392762188256 NA FALSE NA 0 -0.772 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 5/10 1 NA ACA C,G 8.272e-06 15:42817139 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 0.035379 0.23698 0.09593 0.053691 0.517746103773188 0.11539 0.996929374509573 TRUE 8.41531e-06 ENSE00000942477_034 ENSE00000942477 034 15 43109183 43109352 - 47 66 57 A T 43109338 787 15 GCTGAATGTATTGCAGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 42817139 42817140 42817140 upstr_intron -43 -0.736842105263158 GCTGAATGTATTGCAGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT mutant 78 39 0.80844125534135 0.963608295969644 0.886024775655497 891 3311 1 0.999236141282468 0.999618070641234 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 -0.182793580875168 -0.0275366060916469 0.107029686184816 0.184208635588902 0.991189869138904 0.853998909754375 -0.105165093483407 0.145619160886859 0.250784254370267 FALSE FALSE 0.001 1.112 . intron_variant MODIFIER TTBK2 HGNC 19141 ENST00000567274 5/10 rs375661655 1 NA T:0.0003 T:0 CAG A,T 8.272e-06 15:42817140 TTBK2 HGNC Symbol protein_coding 182075 ENSG00000128881 ENSE00000942477 intron_variant 0.080626 0.27253 0.02169 0.053691 0.612141748207064 0.11539 0.996929374509573 TRUE 8.43526e-06 ENSE00000942477_BRK ENSE00000942477 BRK 15 43109183 43109352 - 47 66 57 A,G; T,T NA NA NA GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTTTCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGCCAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT 42816984 42817154 NA NA NA NA NA NA GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTTTCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGCCAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT GCTGAATGTATTGCTGTTTGAAGCTCATTTATTATTCTTTGCATGGCTTCGTTGTAGCCTCGAGCTGTGGCAGGTTTTCGAGGGACAGTTCGTTATGCATCAATCAACGCACATCGGAACAGGGTAGGTATCTGAACTAGAGTCATATCTGTATAAGTATGCTAATAGCT control 1175 591 0.118363048419946 0.127758852818845 0.123060950619395 NA NA NA NA NA 0.991234836216517 0.991144902061291 0.892970313815184 0.815027505693566 -0.872871787796571 -0.863386049242447 NA NA 0.991189869138904 0.853998909754375 -0.868128918519509 NA NA NA TRUE NA NA NA NA NA TTBK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTBK2 NA NA NA ENSG00000128881 ENSE00000942477 NA NA NA NA NA NA NA 0.996929374509573 TRUE NA ENSE00000942574_000 ENSE00000942574 000 15 70368387 70368556 - 48 63 59 NA NA NA NA NA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 NA NA NA NA NA NA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA natural 152 122 0.993872038401779 0.982652996140988 0.988262517271384 4553 3071 0.939856680501795 0.898128559419558 0.918992619960677 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 0 0 0 0 0.988262517271384 0.918992619960677 0 0 0 FALSE FALSE NA NA NA NA NA TLE3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE3 NA NA NA ENSG00000140332 ENSE00000942574 NA NA NA NA NA NA NA 0.999913536986372 TRUE NA ENSE00000942574_001 ENSE00000942574 001 15 70368387 70368556 - 48 63 59 A G 70368401 1598 156 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTCTCCAAATCAGCCCA 70076047 70076217 70076061 70076062 70076062 downstr_intron 34 1.72340425531915 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTCTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 191 724 0.989353613442565 0.971671424507917 0.980512518975241 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0494969329407695 0.0735428650883584 0.988262517271384 0.918992619960677 NA 0.061519899014564 NA FALSE NA 0.011 0.434 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 4/18 1 NA AAA A,G 8.276e-06 15:70076062 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 intron_variant 0.807146 0.28343 0.11829 0.295142 0.825356746247437 0.0708573 0.999913536986372 TRUE 4.07203e-06 ENSE00000942574_002 ENSE00000942574 002 15 70368387 70368556 - 48 63 59 G T 70368412 1599 145 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTATTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076072 70076073 70076073 downstr_intron 23 1.48936170212766 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTATTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant 17 12 0.996697110241169 1 0.998348555120585 2558 270 0.937954317315106 0.998129354228736 0.968041835771921 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 0.00282507183939018 0.0173470038590116 -0.00190236318668857 0.100000794809178 0.988262517271384 0.918992619960677 0.0100860378492009 0.0490492158112446 0.0389631779620437 FALSE FALSE 0 1.076 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 4/18 1 NA AGA G,T 8.276e-06 15:70076073 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 intron_variant -0.292513 0.23886 0.25501 0.295142 0.553766453339029 0.0698953 0.999913536986372 TRUE 4.06663e-06 ENSE00000942574_003 ENSE00000942574 003 15 70368387 70368556 - 48 63 59 C T 70368430 1600 127 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAAACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076090 70076091 70076091 downstr_intron 5 1.1063829787234 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAAACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 214 1193 0.999807535964468 0.999037218124325 0.999422377044396 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0599508554626726 0.100908658704767 0.988262517271384 0.918992619960677 NA 0.0804297570837197 NA FALSE NA 1 5.744 . splice_region_variant&intron_variant LOW TLE3 HGNC 11839 ENST00000558201 4/18 1 NA TCT C,T 8.275e-06 15:70076091 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 splice_region_variant 2.608304 0.99383 0.97266 0.295142 0.975907156106312 0.98056 0.999913536986372 TRUE 4.0626e-06 ENSE00000942574_004 ENSE00000942574 004 15 70368387 70368556 - 48 63 59 T C 70368432 1601 125 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTGAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076092 70076093 70076093 downstr_intron 3 1.06382978723404 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTGAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 86 948 1 1 1 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.060143319498205 0.101871440580442 0.988262517271384 0.918992619960677 NA 0.0810073800393232 NA FALSE NA 1 2.11 rs2291986 splice_region_variant&intron_variant LOW TLE3 HGNC 11839 ENST00000558201 4/18 rs2291986 1 C:0.2496 C:0.2065 C:0.1599 NA C:0.3254 C:0.2117 C:0.3323 C:0.2026 C:0.2166 TTA T,C 0.232 15:70076093 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 splice_region_variant 1.701362 0.97912 0.91853 0.295142 0.908928288053467 0.383983 0.999913536986372 TRUE 0.22881 ENSE00000942574_005 ENSE00000942574 005 15 70368387 70368556 - 48 63 59 C T 70368435 1602 122 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAAGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076095 70076096 70076096 exon -1 1 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAAGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant 61 31 0.85 0.85 0.85 14 945 0.8 0.8 0.8 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 -0.143872038401779 -0.132652996140988 -0.139856680501795 -0.0981285594195584 0.988262517271384 0.918992619960677 -0.138262517271384 -0.118992619960677 0.0192698973107069 FALSE FALSE 1 7.707 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:70076096 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 splice_region_variant 2.766332 0.99648 0.99326 0.736574 0.910445541037677 0 0.999913536986372 TRUE 4.06256e-06 ENSE00000942574_006 ENSE00000942574 006 15 70368387 70368556 - 48 63 59 C G 70368435 1603 122 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGACGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076095 70076096 70076096 exon -1 1 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGACGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant 129 133 0.85 0.85 0.85 1331 19 0.655606656998825 0.8 0.727803328499413 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 -0.143872038401779 -0.132652996140988 -0.28425002350297 -0.0981285594195584 0.988262517271384 0.918992619960677 -0.138262517271384 -0.191189291461264 0.0529267741898806 FALSE FALSE 1 7.707 NA NA NA TLE3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE3 NA NA NA ENSG00000140332 ENSE00000942574 missense_variant 5.399431 0.99666 0.99492 0.736574 0.995004820747083 0 0.999913536986372 TRUE 4.06256e-06 ENSE00000942574_007 ENSE00000942574 007 15 70368387 70368556 - 48 63 59 G A 70368442 1604 115 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTTACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076102 70076103 70076103 exon -8 0.888888888888889 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTTACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant 13 11 0.988580030142525 0.991645571697605 0.990112800920065 1002 145 0.996920498000625 0.997872281888676 0.997396389944651 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 -0.00529200825925424 0.00899257555661681 0.0570638174988296 0.0997437224691178 0.988262517271384 0.918992619960677 0.00185028364868128 0.0784037699839737 0.0765534863352924 FALSE FALSE 1 9.726 . missense_variant MODERATE TLE3 HGNC 11839 ENST00000558201 4/19 1 deleterious(0.02) benign(0.234) NA TGA G,A 8.274e-06 15:70076103 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 missense_variant 7.160948 0.99667 0.996 0.736574 0.998892025678311 0 0.999913536986372 TRUE 4.06207e-06 ENSE00000942574_008 ENSE00000942574 008 15 70368387 70368556 - 48 63 59 G T 70368446 1605 111 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCATGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076106 70076107 70076107 exon -12 0.825396825396825 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCATGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 671 339 0.997895874100019 1 0.99894793705001 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0580391935982243 0.101871440580442 0.988262517271384 0.918992619960677 NA 0.0799553170893329 NA FALSE NA 1 1.436 . missense_variant MODERATE TLE3 HGNC 11839 ENST00000558201 4/19 1 deleterious(0) probably_damaging(0.967) NA AGG G,T 8.274e-06 15:70076107 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 missense_variant 5.597003 0.98541 0.96739 0.736574 0.997012292497723 0 0.999913536986372 TRUE 4.06187e-06 ENSE00000942574_009 ENSE00000942574 009 15 70368387 70368556 - 48 63 59 T A 70368462 1606 95 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCTCAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076122 70076123 70076123 exon -28 0.571428571428571 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCTCAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 958 736 0.996461978990544 0.991305937919892 0.993883958455218 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0566052984887485 0.0931773785003335 0.988262517271384 0.918992619960677 NA 0.074891338494541 NA FALSE NA 0.034 -0.257 . synonymous_variant LOW TLE3 HGNC 11839 ENST00000558201 4/19 1 NA GTG T,A 1.655e-05 15:70076123 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 synonymous_variant 0.872487 0.37595 0.15454 0.736574 0.71538320795107 0 0.999913536986372 TRUE 8.12315e-06 ENSE00000942574_010 ENSE00000942574 010 15 70368387 70368556 - 48 63 59 T C 70368470 1607 87 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAGTTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076130 70076131 70076131 exon 28 0.444444444444444 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAGTTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 1046 1213 0.99921045989947 0.998531364282888 0.998870912091179 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0593537793976751 0.100402804863329 0.988262517271384 0.918992619960677 NA 0.0798782921305022 NA FALSE NA 1 7.926 rs150044020 missense_variant MODERATE TLE3 HGNC 11839 ENST00000558201 4/19 rs150044020 1 deleterious(0) benign(0.148) NA C:0.0005 C:0 ATT T,C 2.482e-05 15:70076131 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 missense_variant 3.479599 0.9951 0.99248 0.736574 0.998812656810132 0 0.999913536986372 TRUE 3.24907e-05 ENSE00000942574_011 ENSE00000942574 011 15 70368387 70368556 - 48 63 59 T G 70368471 1608 86 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACCATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076131 70076132 70076132 exon 27 0.428571428571429 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACCATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 770 221 0.999087858603628 0.86522534624291 0.932156602423269 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0592311781018325 -0.0329032131766488 0.988262517271384 0.918992619960677 NA 0.0131639824625919 NA FALSE NA 0 -1.741 . synonymous_variant LOW TLE3 HGNC 11839 ENST00000558201 4/19 1 NA TTG T,G 8.273e-06 15:70076132 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 synonymous_variant 0.674043 0.92002 0.2791 0.736574 0.7589590941925 0 0.999913536986372 TRUE 1.21847e-05 ENSE00000942574_012 ENSE00000942574 012 15 70368387 70368556 - 48 63 59 C A 70368481 1609 76 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGATACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076141 70076142 70076142 exon 17 0.26984126984127 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGATACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 417 1143 1 1 1 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.060143319498205 0.101871440580442 0.988262517271384 0.918992619960677 NA 0.0810073800393232 NA FALSE NA 1 7.707 . missense_variant MODERATE TLE3 HGNC 11839 ENST00000558201 4/19 1 deleterious(0.01) probably_damaging(0.998) NA TCT C,A 8.272e-06 15:70076142 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 missense_variant 7.384754 0.99437 0.99319 0.736574 0.987311343169977 0 0.999913536986372 TRUE NA ENSE00000942574_015 ENSE00000942574 015 15 70368387 70368556 - 48 63 59 G A 70368487 1612 70 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGTGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076147 70076148 70076148 exon 11 0.174603174603175 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGTGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 480 1673 0.992241947619153 0.988601288010075 0.990421617814614 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0523852671173577 0.090472728590516 0.988262517271384 0.918992619960677 NA 0.0714289978539369 NA FALSE NA 1 6.743 . missense_variant MODERATE TLE3 HGNC 11839 ENST00000558201 4/19 1 tolerated(0.51) probably_damaging(0.926) NA CGC G,A 3.309e-05 15:70076148 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 missense_variant 5.580387 0.99159 0.98549 0.736574 0.985020204998327 0 0.999913536986372 TRUE 4.87456e-05 ENSE00000942574_016 ENSE00000942574 016 15 70368387 70368556 - 48 63 59 T C 70368491 1613 66 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGGTTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076151 70076152 70076152 exon 7 0.111111111111111 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGGTTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 221 253 0.999305883291101 0.993413118788526 0.996359501039813 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0594492027893055 0.0952845593689678 0.988262517271384 0.918992619960677 NA 0.0773668810791367 NA FALSE NA 1 7.926 rs186570479 missense_variant MODERATE TLE3 HGNC 11839 ENST00000558201 4/19 rs186570479 1 deleterious(0.03) benign(0.109) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0 C:0.0001 ATC T,C 0.0001158 15:70076152 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 missense_variant 2.993575 0.9951 0.99248 0.736574 0.998963489236858 0 0.999913536986372 TRUE 0.000162471 ENSE00000942574_017 ENSE00000942574 017 15 70368387 70368556 - 48 63 59 T G 70368495 1614 62 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACCGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076155 70076156 70076156 exon 3 0.0476190476190476 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACCGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 1701 1318 0.994775262157286 0.998949763396628 0.996862512776957 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0549185816554908 0.100821203977069 0.988262517271384 0.918992619960677 NA 0.07786989281628 NA FALSE NA 0.926 0.059 . splice_region_variant&synonymous_variant LOW TLE3 HGNC 11839 ENST00000558201 4/19 1 NA CTG T,G 4.136e-05 15:70076156 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 splice_region_variant 1.045954 0.93044 0.81865 0.736574 0.694371101308266 0 0.999913536986372 TRUE 3.65556e-05 ENSE00000942574_018 ENSE00000942574 018 15 70368387 70368556 - 48 63 59 G T 70368506 1615 51 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGACTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076166 70076167 70076167 upstr_intron -9 -0.135593220338983 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGACTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant 17 45 1 1 1 104 1187 1 0.985410992757637 0.992705496378818 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 0.00612796159822104 0.0173470038590116 0.060143319498205 0.0872824333380783 0.988262517271384 0.918992619960677 0.0117374827286163 0.0737128764181416 0.0619753936895253 FALSE FALSE 0 0.857 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 3/18 1 NA GGC G,T 8.271e-06 15:70076167 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 intron_variant 0.848911 0.36976 0.27188 0.084033 0.704636473301898 0.207439 0.999913536986372 TRUE NA ENSE00000942574_019 ENSE00000942574 019 15 70368387 70368556 - 48 63 59 A C 70368517 1616 40 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGGGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076177 70076178 70076178 upstr_intron -20 -0.322033898305085 GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGGGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 1097 2292 0.99924728474652 0.998244072481903 0.998745678614211 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.0593906042447248 0.100115513062345 0.988262517271384 0.918992619960677 NA 0.0797530586535347 NA FALSE NA 0 -0.181 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 3/18 rs200546453 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CAC A,C 8.271e-06 15:70076178 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 intron_variant 0.295918 0.2222 0.10701 0.084033 0.73037017049403 0.0726717 0.999913536986372 TRUE 8.12783e-06 ENSE00000942574_021 ENSE00000942574 021 15 70368387 70368556 - 48 63 59 C T 70368525 1618 32 GACATTTCAGTGACTTGATTTATTTGCCTGAACTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076185 70076186 70076186 upstr_intron -28 -0.457627118644068 GACATTTCAGTGACTTGATTTATTTGCCTGAACTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 962 643 1 1 1 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.060143319498205 0.101871440580442 0.988262517271384 0.918992619960677 NA 0.0810073800393232 NA FALSE NA 0 0.052 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 3/18 1 NA GCT C,T 8.271e-06 15:70076186 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 intron_variant 0.578906 0.25634 0.03389 0.084033 0.712275213190076 0.0726717 0.999913536986372 TRUE 4.06732e-06 ENSE00000942574_022 ENSE00000942574 022 15 70368387 70368556 - 48 63 59 A T 70368537 1619 20 GACATTTCAGTGACTTGATATATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076197 70076198 70076198 upstr_intron -40 -0.661016949152542 GACATTTCAGTGACTTGATATATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 773 754 0.998555711331247 1 0.999277855665624 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA 0.058699030829452 0.101871440580442 0.988262517271384 0.918992619960677 NA 0.0802852357049468 NA FALSE NA 0.027 0.399 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 3/18 1 NA AAA A,T 8.27e-06 15:70076198 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 intron_variant 0.067433 0.22058 0.16448 0.084033 0.678151943391456 0.0726717 0.999913536986372 TRUE 4.07667e-06 ENSE00000942574_023 ENSE00000942574 023 15 70368387 70368556 - 48 63 59 C G 70368540 1620 17 GACATTTCAGTGACTTCATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA 70076047 70076217 70076200 70076201 70076201 upstr_intron -43 -0.711864406779661 GACATTTCAGTGACTTCATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA GACATTTCAGTGACTTGATTTATTTGCCTGAGCTTCATGTGGTCTCCTTGCCTTTGCAGACAGAGATTGCGAAGAGACTGAACACAATTTTAGCACAGATCATGCCTTTCCTGTCACAAGAGGTAAGACCTTCTTTTATTATTTCTTCCTTTTCTTTCCAAATCAGCCCA mutant NA NA NA NA NA 699 991 0.840075943950114 0.919087244472181 0.879581594211148 0.993872038401779 0.982652996140988 0.939856680501795 0.898128559419558 NA NA -0.0997807365516807 0.0209586850526225 0.988262517271384 0.918992619960677 NA -0.0394110257495291 NA FALSE NA 0.72 0.602 rs2291985 intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 3/18 rs2291985 1 G:0.0635 G:0 G:0.0187 NA G:0.1954 G:0.0139 G:0.0961 G:0.0041 G:0.0169 TCA C,G 0.04 15:70076201 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942574 intron_variant -0.0284 0.29376 0.31101 0.084033 0.618683400606876 0.0726717 0.999913536986372 TRUE 0.038525 ENSE00000942578_000 ENSE00000942578 000 15 70351695 70351864 - 54 51 65 NA NA NA NA NA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 NA NA NA NA NA NA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA natural 89 107 0.995706033041994 0.979054177252954 0.987380105147474 2328 3038 0.942171193303471 0.992580177576243 0.967375685439857 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 0 0 0 0 0.987380105147474 0.967375685439857 0 0 0 FALSE FALSE NA NA NA NA NA TLE3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE3 NA NA NA ENSG00000140332 ENSE00000942578 NA NA NA NA NA NA NA 0.999913536986372 TRUE NA ENSE00000942578_001 ENSE00000942578 001 15 70351695 70351864 - 54 51 65 C G 70351710 1576 155 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGCCATGGTTTGGAATTA 70059355 70059525 70059370 70059371 70059371 downstr_intron 39 1.73584905660377 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGCCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 507 549 0.974403805307668 0.999513278002855 0.986958541655261 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0322326120041967 0.00693310042661166 0.987380105147474 0.967375685439857 NA 0.0195828562154042 NA FALSE NA 0 -1.113 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 1 NA GCC C,G 8.273e-06 15:70059371 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.119181 0.21059 0.09387 0.256867 0.431025293436854 0.0625984 0.999913536986372 TRUE 4.69149e-06 ENSE00000942578_002 ENSE00000942578 002 15 70351695 70351864 - 54 51 65 A G 70351717 1577 148 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTCGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059377 70059378 70059378 downstr_intron 32 1.60377358490566 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTCGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 1183 1250 0.998529701875302 0.993435362428285 0.995982532151793 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0563585085718308 0.000855184852041835 0.987380105147474 0.967375685439857 NA 0.0286068467119363 NA FALSE NA 0 -0.3 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 1 NA CAA A,G 1.655e-05 15:70059378 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.047223 0.19923 0.04781 0.256867 0.676909058317991 0.0625984 0.999913536986372 TRUE 8.91878e-06 ENSE00000942578_003 ENSE00000942578 003 15 70351695 70351864 - 54 51 65 G C 70351719 1578 146 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTGTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059379 70059380 70059380 downstr_intron 30 1.56603773584906 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTGTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 146 1250 1 0.999781981298575 0.999890990649287 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0578288066965291 0.00720180372233159 0.987380105147474 0.967375685439857 NA 0.0325153052094304 NA FALSE NA 0 -0.017 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 1 NA AGA G,C 4.136e-05 15:70059380 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant -0.233803 0.1965 0.1014 0.256867 0.674818885330061 0.0625984 0.999913536986372 TRUE 1.77382e-05 ENSE00000942578_004 ENSE00000942578 004 15 70351695 70351864 - 54 51 65 C T 70351730 1579 135 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCACAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059390 70059391 70059391 downstr_intron 19 1.35849056603774 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCACAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 35 24 1 0.995840853518196 0.997920426759098 149 1316 1 0.999884242249862 0.999942121124931 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 0.00429396695800555 0.0167866762652418 0.0578288066965291 0.00730406467361888 0.987380105147474 0.967375685439857 0.0105403216116237 0.032566435685074 0.0220261140734503 FALSE FALSE 0 -0.174 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 rs541500533 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C,T 2.481e-05 15:70059391 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.041016 0.24876 0.08283 0.256867 0.348054454297637 0.0625984 0.999913536986372 TRUE 8.17352e-05 ENSE00000942578_005 ENSE00000942578 005 15 70351695 70351864 - 54 51 65 G A 70351731 1580 134 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTTGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059391 70059392 70059392 downstr_intron 18 1.33962264150943 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTTGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 600 447 1 0.930960492708844 0.965480246354422 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0578288066965291 -0.0616196848673995 0.987380105147474 0.967375685439857 NA -0.00189543908543521 NA FALSE NA 0 0.742 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 1 NA CGA G,A 1.654e-05 15:70059392 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant -0.329393 0.11014 0.00879 0.256867 0.325039402398666 0.0625984 0.999913536986372 TRUE NA ENSE00000942578_006 ENSE00000942578 006 15 70351695 70351864 - 54 51 65 C T 70351734 1581 131 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCAGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059394 70059395 70059395 downstr_intron 15 1.28301886792453 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCAGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 727 275 0.998309405428892 1 0.999154702714446 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0561382121254211 0.00741982242375683 0.987380105147474 0.967375685439857 NA 0.031779017274589 NA FALSE NA 0 -1.565 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 1 NA CCG C,T 1.654e-05 15:70059395 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant -0.09078 0.15739 0.06035 0.256867 0.388056292032488 0.0625984 0.999913536986372 TRUE NA ENSE00000942578_007 ENSE00000942578 007 15 70351695 70351864 - 54 51 65 G A 70351735 1582 130 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCTGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059395 70059396 70059396 downstr_intron 14 1.26415094339623 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCTGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 17 10 0.989392093664002 1 0.994696046832001 234 353 0.991301306175262 0.946058854984337 0.968680080579799 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 -0.00631393937799241 0.0209458227470461 0.0491301128717915 -0.0465213225919064 0.987380105147474 0.967375685439857 0.00731594168452687 0.00130439513994252 0.00601154654458436 FALSE FALSE 0 -0.354 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 rs368446027 1 NA A:0 A:0.0002 CGG G,A 7.443e-05 15:70059396 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.000459 0.24573 0.09345 0.256867 0.35557364513919 0.129874 0.999913536986372 TRUE 0.000110313 ENSE00000942578_008 ENSE00000942578 008 15 70351695 70351864 - 54 51 65 G A 70351737 1583 128 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGTCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059397 70059398 70059398 downstr_intron 12 1.22641509433962 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGTCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 22 14 1 0.999162117776843 0.999581058888422 347 266 1 0.999856801298746 0.999928400649373 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 0.00429396695800555 0.0201079405238894 0.0578288066965291 0.00727662372250271 0.987380105147474 0.967375685439857 0.0122009537409475 0.0325527152095159 0.0203517614685684 FALSE FALSE 0 -0.861 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 1 NA GGC G,A 8.269e-06 15:70059398 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.24905 0.23347 0.07794 0.256867 0.443489868360478 0.159706 0.999913536986372 TRUE NA ENSE00000942578_009 ENSE00000942578 009 15 70351695 70351864 - 54 51 65 C T 70351738 1584 127 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGACCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059398 70059399 70059399 downstr_intron 11 1.20754716981132 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGACCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 35 25 0.989049364936264 0.991677385908655 0.990363375422459 88 707 0.945285419029031 0.998683462332035 0.971984440680533 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 -0.00665666810573073 0.0126232086557008 0.00311422572556053 0.00610328475579136 0.987380105147474 0.967375685439857 0.00298327027498502 0.00460875524067594 0.00162548496569093 FALSE FALSE 0 1.18 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 9/18 rs200292333 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0008 T:0.0012 GCC C,T 0.0005127 15:70059399 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.380177 0.28372 0.12123 0.256867 0.490887552539102 0.159706 0.999913536986372 TRUE 0.000725836 ENSE00000942578_010 ENSE00000942578 010 15 70351695 70351864 - 54 51 65 G A 70351755 1585 110 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCTAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059415 70059416 70059416 exon -7 0.882352941176471 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCTAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 209 622 0.803259814648709 0.996370465827408 0.899815140238059 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA -0.138911378654761 0.00379028825116468 0.987380105147474 0.967375685439857 NA -0.0675605452017984 NA FALSE NA 1 1.452 . synonymous_variant LOW TLE3 HGNC 11839 ENST00000558201 9/19 rs544102477&COSM701364 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGG G,A 8.267e-06 15:70059416 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 synonymous_variant 1.565182 0.9203 0.92541 0.706548 0.673798422755809 0 0.999913536986372 TRUE NA ENSE00000942578_011 ENSE00000942578 011 15 70351695 70351864 - 54 51 65 A G 70351761 1586 104 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGACGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059421 70059422 70059422 exon -13 0.764705882352941 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGACGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 17 10 1 1 1 929 670 0.975886070798122 0.999763879127125 0.987824974962624 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 0.00429396695800555 0.0209458227470461 0.0337148774946512 0.00718370155088177 0.987380105147474 0.967375685439857 0.0126198948525258 0.0204492895227665 0.00782939467024063 FALSE FALSE 0 -2.829 . synonymous_variant LOW TLE3 HGNC 11839 ENST00000558201 9/19 1 NA CAT A,G 8.266e-06 15:70059422 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 synonymous_variant 0.657349 0.89281 0.27349 0.706548 0.68271294716725 0 0.999913536986372 TRUE NA ENSE00000942578_012 ENSE00000942578 012 15 70351695 70351864 - 54 51 65 T C 70351788 1587 77 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGGGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059448 70059449 70059449 exon 12 0.235294117647059 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGGGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 29 28 0.986033626904826 0.85 0.918016813452413 518 1267 0.991296998367809 0.939388812506521 0.965342905437165 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 -0.00967240613716891 -0.129054177252954 0.0491258050643386 -0.0531913650697218 0.987380105147474 0.967375685439857 -0.0693632916950614 -0.00203278000269158 0.0673305116923698 FALSE FALSE 0.157 -0.194 rs2133977 synonymous_variant LOW TLE3 HGNC 11839 ENST00000558201 9/19 rs2133977 1 T:0.3257 C:0.4917 C:0.8329 NA C:0.6954 C:0.7853 C:0.6728 C:0.5579 C:0.7765 CTC C,C 0.735 15:70059449 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 synonymous_variant 0.238631 0.89574 0.25994 0.706548 0.757241762616057 0 0.999913536986372 TRUE 0.748792 ENSE00000942578_013 ENSE00000942578 013 15 70351695 70351864 - 54 51 65 G A 70351797 1588 68 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGATAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059457 70059458 70059458 exon 3 0.0588235294117647 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGATAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 324 64 1 0.958279694218537 0.979139847109268 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0578288066965291 -0.0343004833577066 0.987380105147474 0.967375685439857 NA 0.0117641616694112 NA FALSE NA 1 3.401 . splice_region_variant&synonymous_variant LOW TLE3 HGNC 11839 ENST00000558201 9/19 1 NA TGT G,A 8.266e-06 15:70059458 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 splice_region_variant 1.009767 0.92547 0.94777 0.706548 0.775601471429661 0 0.999913536986372 TRUE NA ENSE00000942578_014 ENSE00000942578 014 15 70351695 70351864 - 54 51 65 C A 70351803 1589 62 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTTCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059463 70059464 70059464 upstr_intron -4 -0.0461538461538462 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTTCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 703 638 0.847167442036611 0.990854257901916 0.919010849969263 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA -0.0950037512668601 -0.00172591967432711 0.987380105147474 0.967375685439857 NA -0.0483648354705936 NA FALSE NA 0 -1.199 . splice_region_variant&intron_variant LOW TLE3 HGNC 11839 ENST00000558201 8/18 rs564226617 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GCA C,A 1.653e-05 15:70059464 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 splice_region_variant 0.306132 0.26404 0.23494 0.062308 0.585775856921739 0.0820885 0.999913536986372 TRUE NA ENSE00000942578_015 ENSE00000942578 015 15 70351695 70351864 - 54 51 65 G C 70351810 1590 55 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTGTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059470 70059471 70059471 upstr_intron -11 -0.153846153846154 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTGTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 29 11 1 1 1 302 513 1 0.99565918511666 0.99782959255833 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 0.00429396695800555 0.0209458227470461 0.0578288066965291 0.00307900754041646 0.987380105147474 0.967375685439857 0.0126198948525258 0.0304539071184728 0.0178340122659469 FALSE FALSE 0.007 0.272 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 8/18 1 NA AGA G,C 8.265e-06 15:70059471 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.415213 0.28379 0.26347 0.062308 0.735741358895683 0.0911347 0.999913536986372 TRUE NA ENSE00000942578_016 ENSE00000942578 016 15 70351695 70351864 - 54 51 65 G A 70351812 1591 53 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTTTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059472 70059473 70059473 upstr_intron -13 -0.184615384615385 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTTTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 13 29 0.997104629877178 0.987807884722866 0.992456257300022 1801 306 1 0.999482811123896 0.999741405561948 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 0.00139859683518362 0.00875370746991211 0.0578288066965291 0.00690263354765297 0.987380105147474 0.967375685439857 0.00507615215254786 0.032365720122091 0.0272895679695432 FALSE FALSE 0 -1.455 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 8/18 1 NA AGA G,A 1.653e-05 15:70059473 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.570141 0.23075 0.1027 0.062308 0.62956965693053 0.112861 0.999913536986372 TRUE NA ENSE00000942578_017 ENSE00000942578 017 15 70351695 70351864 - 54 51 65 A C 70351816 1592 49 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCGTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059476 70059477 70059477 upstr_intron -17 -0.246153846153846 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCGTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 888 249 0.985519762399697 1 0.992759881199848 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0433485690962259 0.00741982242375683 0.987380105147474 0.967375685439857 NA 0.0253841957599913 NA FALSE NA 0.185 1.139 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:70059477 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.762523 0.37511 0.17256 0.062308 0.831548931561225 0.585052 0.999913536986372 TRUE 8.77801e-06 ENSE00000942578_018 ENSE00000942578 018 15 70351695 70351864 - 54 51 65 A T 70351816 1593 49 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCATCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059476 70059477 70059477 upstr_intron -17 -0.246153846153846 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCATCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 898 300 0.989115536907576 1 0.994557768453788 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0469443436041054 0.00741982242375683 0.987380105147474 0.967375685439857 NA 0.0271820830139311 NA FALSE NA 0.185 1.139 NA NA NA TLE3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE3 NA NA NA ENSG00000140332 ENSE00000942578 intron_variant 0.884081 0.37159 0.16583 0.062308 0.802076524505317 0.585052 0.999913536986372 TRUE 4.38901e-06 ENSE00000942578_019 ENSE00000942578 019 15 70351695 70351864 - 54 51 65 G A 70351824 1594 41 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACTAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059484 70059485 70059485 upstr_intron -25 -0.369230769230769 GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACTAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 39 51 0.965633816142705 0.93215860009286 0.948896208117783 226 476 0.970446699549588 0.997399815297232 0.98392325742341 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 -0.0300722168992891 -0.0468955771600941 0.0282755062461174 0.00481963772098903 0.987380105147474 0.967375685439857 -0.0384838970296916 0.0165475719835532 0.0550314690132448 FALSE FALSE 0.001 0.045 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 8/18 1 NA TGG G,A 0.0001075 15:70059485 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.263564 0.25321 0.08879 0.062308 0.668362767794538 0.0879624 0.999913536986372 TRUE 7.74346e-05 ENSE00000942578_020 ENSE00000942578 020 15 70351695 70351864 - 54 51 65 C T 70351840 1595 25 GGCTCAGTCAGGGGTGGGGAAAGTATGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059500 70059501 70059501 upstr_intron -41 -0.615384615384615 GGCTCAGTCAGGGGTGGGGAAAGTATGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 11 14 1 1 1 325 238 0.996682794692202 0.987159971395219 0.99192138304371 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 0.00429396695800555 0.0209458227470461 0.0545116013887309 -0.00542020618102457 0.987380105147474 0.967375685439857 0.0126198948525258 0.0245456976038532 0.0119258027513273 FALSE FALSE 0 -0.699 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 8/18 1 NA ACA C,T 8.282e-06 15:70059501 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.086162 0.23331 0.13738 0.062308 0.41114646574058 0.0595372 0.999913536986372 TRUE NA ENSE00000942578_021 ENSE00000942578 021 15 70351695 70351864 - 54 51 65 T C 70351843 1596 22 GGCTCAGTCAGGGGTGGGGAAGGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059503 70059504 70059504 upstr_intron -44 -0.661538461538462 GGCTCAGTCAGGGGTGGGGAAGGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant 11 36 0.998220169871321 0.99324116913425 0.995730669502785 947 280 0.99837785874966 0.973706524243223 0.986042191496442 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 0.00251413682932644 0.0141869918812958 0.0562066654461892 -0.0188736533330202 0.987380105147474 0.967375685439857 0.00835056435531112 0.0186665060565845 0.0103159417012734 FALSE FALSE 0 -2.255 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 8/18 1 NA CTT T,C 8.282e-06 15:70059504 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant -0.030439 0.20296 0.05979 0.062308 0.718315531017675 0.0765864 0.999913536986372 TRUE 5.17722e-06 ENSE00000942578_022 ENSE00000942578 022 15 70351695 70351864 - 54 51 65 C T 70351848 1597 17 GGCTCAGTCAGGGGTGAGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 70059508 70059509 70059509 upstr_intron -49 -0.738461538461539 GGCTCAGTCAGGGGTGAGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA mutant NA NA NA NA NA 814 365 0.988922155909852 0.803663235377271 0.896292695643562 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 NA NA 0.0467509626063813 -0.188916942198972 0.987380105147474 0.967375685439857 NA -0.0710829897962952 NA FALSE NA 0 0.225 . intron_variant MODIFIER TLE3 HGNC 11839 ENST00000558201 8/18 1 NA CCC C,T 8.286e-06 15:70059509 TLE3 HGNC Symbol protein_coding 50386 ENSG00000140332 ENSE00000942578 intron_variant 0.394524 0.27146 0.17231 0.062308 0.761812037490506 0.0795087 0.999913536986372 TRUE NA ENSE00000942578_BRK ENSE00000942578 BRK 15 70351695 70351864 - 54 51 65 A,G; T,T NA NA NA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCTTGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGCCATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA 70059355 70059525 NA NA NA NA NA NA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCTTGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGCCATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA GGCTCAGTCAGGGGTGGGGAAAGTGTGGCCTCTTACTGACCAGTTGGCTTCTCTCTTGGTTGCAGGACAGTGATGGAGACAAGAGTGATGATCTGGTGGTGGATGTTTCCAATGAGGTATGGGCAGGCCCGGTCGCAAGGGGGCTCTTGGTTTGGCATGGTTTGGAATTA control 126 194 0 0 0 556 1549 0.146427358131173 0.00332285164790254 0.074875104889538 0.995706033041994 0.979054177252954 0.942171193303471 0.992580177576243 -0.995706033041994 -0.979054177252954 -0.795743835172297 -0.989257325928341 0.987380105147474 0.967375685439857 -0.987380105147474 -0.892500580550319 0.0948795245971552 TRUE TRUE NA NA NA NA NA TLE3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE3 NA NA NA ENSG00000140332 ENSE00000942578 NA NA NA NA NA NA NA 0.999913536986372 TRUE NA ENSE00000942843_000 ENSE00000942843 000 15 77344689 77344858 - 38 84 48 NA NA NA NA NA TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT 77052346 77052516 NA NA NA NA NA NA TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT natural 21 22 0.994157712731634 0.998527673438072 0.996342693084853 2649 911 0.948256278811496 0.994824196101269 0.971540237456383 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 0 0 0 0 0.996342693084853 0.971540237456383 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN3 NA NA NA ENSG00000140391 ENSE00003597922 NA NA NA NA NA NA NA 0.284424065158703 FALSE NA ENSE00000942843_001 ENSE00000942843 001 15 77344689 77344858 - 38 84 48 T C 77344700 2020 159 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTGTCGGAGTGAGT 77052346 77052516 77052357 77052358 77052358 downstr_intron 27 1.72972972972973 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTGTCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 485 57 1 1 1 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00517580389873051 0.996342693084853 0.971540237456383 NA 0.0284597625436173 NA FALSE NA 0 0.315 . intron_variant MODIFIER TSPAN3 HGNC 17752 ENST00000346495 5/5 1 NA ATA T,C 2.471e-05 15:77052358 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 intron_variant 0.006551 0.16002 0.04881 0.295142 0.431910134378142 0.0476178 0.284424065158703 FALSE 4.47136e-05 ENSE00000942843_002 ENSE00000942843 002 15 77344689 77344858 - 38 84 48 C T 77344705 2021 154 ACTCACTCCGATAGAATTCCTTGGCAAGCTGTGCTTACCTGAATAGCTGCAAATGCCAGTGCGGCCCAGATCACATGCATCATGATTTCTTGTAGCTTCTTCACTACTAGAGCCTCACACCCCTGTAACAAACACAGTCATCCTCGTTAGAAGTGTTCTTTAAAAGTTAA 77052346 77052516 77052362 77052363 77052363 downstr_intron 22 1.59459459459459 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAATTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 108 110 1 0.992387495146586 0.996193747573293 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 -0.00243670095468329 0.996342693084853 0.971540237456383 NA 0.0246535101169104 NA FALSE NA 0 0.41 . intron_variant MODIFIER TSPAN3 HGNC 17752 ENST00000346495 5/5 rs547792503 1 T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 ACT C,T 0.0005436 15:77052363 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 intron_variant 0.996443 0.2037 0.1021 0.295142 0.783909319064469 0.133456 0.284424065158703 FALSE 0.000540567 ENSE00000942843_004 ENSE00000942843 004 15 77344689 77344858 - 38 84 48 T C 77344710 2023 149 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCGAGGAGTTCTATCGGAGTGAGT 77052346 77052516 77052367 77052368 77052368 downstr_intron 17 1.45945945945946 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCGAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 75 47 1 1 1 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00517580389873051 0.996342693084853 0.971540237456383 NA 0.0284597625436173 NA FALSE NA 0 -0.533 . intron_variant MODIFIER TSPAN3 HGNC 17752 ENST00000346495 5/5 rs202132942 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TTG T,C 0.0003377 15:77052368 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 intron_variant 1.789 0.18247 0.0499 0.295142 0.799116886951372 0.176413 0.284424065158703 FALSE 0.000402311 ENSE00000942843_005 ENSE00000942843 005 15 77344689 77344858 - 38 84 48 C T 77344713 2024 146 ACTCACTCCGATAGAACTCCTTGGTAAGCTGTGCTTACCTGAATAGCTGCAAATGCCAGTGCGGCCCAGATCACATGCATCATGATTTCTTGTAGCTTCTTCACTACTAGAGCCTCACACCCCTGTAACAAACACAGTCATCCTCGTTAGAAGTGTTCTTTAAAAGTTAA 77052346 77052516 77052370 77052371 77052371 downstr_intron 14 1.37837837837838 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTACCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 59 752 1 1 1 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00517580389873051 0.996342693084853 0.971540237456383 NA 0.0284597625436173 NA FALSE NA 0 -0.766 . intron_variant MODIFIER TSPAN3 HGNC 17752 ENST00000346495 5/5 1 NA GCA C,T 8.236e-06 15:77052371 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 intron_variant 1.981276 0.16262 0.0436 0.295142 0.841182694657014 0.250534 0.284424065158703 FALSE 1.21928e-05 ENSE00000942843_007 ENSE00000942843 007 15 77344689 77344858 - 38 84 48 T C 77344720 2026 139 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCGCAGCTTGCCAAGGAGTTCTATCGGAGTGAGT 77052346 77052516 77052377 77052378 77052378 downstr_intron 7 1.18918918918919 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCGCAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 345 24 1 1 1 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00517580389873051 0.996342693084853 0.971540237456383 NA 0.0284597625436173 NA FALSE NA 0.014 -0.137 . splice_region_variant&intron_variant LOW TSPAN3 HGNC 17752 ENST00000346495 5/5 rs375889982 1 NA C:0 C:0.0002 GTG T,C 1.647e-05 15:77052378 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 splice_region_variant 1.088037 0.19663 0.02246 0.295142 0.682730177812196 0.378824 0.284424065158703 FALSE 1.21881e-05 ENSE00000942843_010 ENSE00000942843 010 15 77344689 77344858 - 38 84 48 G A 77344747 2029 112 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCATTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT 77052346 77052516 77052404 77052405 77052405 exon -21 0.761904761904762 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCATTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 435 54 1 1 1 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00517580389873051 0.996342693084853 0.971540237456383 NA 0.0284597625436173 NA FALSE NA 0.993 2.415 . synonymous_variant LOW TSPAN3 HGNC 17752 ENST00000346495 5/6 1 NA AGT G,A 7.413e-05 15:77052405 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 synonymous_variant 1.357925 0.95767 0.91177 0.706548 0.698536532414293 0 0.284424065158703 FALSE 8.93488e-05 ENSE00000942843_014 ENSE00000942843 014 15 77344689 77344858 - 38 84 48 A G 77344763 2033 96 ACTCACTCCGATAGAACTCCTTGGCAAGCTGTGCTTACCTGAATAGCTGCAAATGCCAGTGCGGCCCAGATCACGTGCATCATGATTTCTTGTAGCTTCTTCACTACTAGAGCCTCACACCCCTGTAACAAACACAGTCATCCTCGTTAGAAGTGTTCTTTAAAAGTTAA 77052346 77052516 77052420 77052421 77052421 exon -37 0.571428571428571 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCACGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 705 141 0.996814254865091 1 0.998407127432545 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0485579760535949 0.00517580389873051 0.996342693084853 0.971540237456383 NA 0.0268668899761627 NA FALSE NA 0.996 0.616 . synonymous_variant LOW TSPAN3 HGNC 17752 ENST00000346495 5/6 1 NA CAT A,G 8.236e-06 15:77052421 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 synonymous_variant 0.389586 0.96175 0.82605 0.706548 0.625196286186852 0 0.284424065158703 FALSE 4.06091e-06 ENSE00000942843_016 ENSE00000942843 016 15 77344689 77344858 - 38 84 48 C T 77344802 2035 57 ACTCACTCCGATAGAACTCCTTGGCAAGCTGTGCTTACCTGAATAGCTGCAAATGCCAGTGCGGCCCAGATCACATGCATCATGATTTCTTGTAGCTTCTTCACTACTAGAGCTTCACACCCCTGTAACAAACACAGTCATCCTCGTTAGAAGTGTTCTTTAAAAGTTAA 77052346 77052516 77052459 77052460 77052460 exon 9 0.107142857142857 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAAGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 58 307 1 1 1 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00517580389873051 0.996342693084853 0.971540237456383 NA 0.0284597625436173 NA FALSE NA 0.994 0.327 . synonymous_variant LOW TSPAN3 HGNC 17752 ENST00000346495 5/6 1 NA CCT C,T 8.236e-06 15:77052460 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 synonymous_variant 2.269495 0.96758 0.74256 0.706548 0.579772697678303 0 0.284424065158703 FALSE 4.06118e-06 ENSE00000942843_018 ENSE00000942843 018 15 77344689 77344858 - 38 84 48 C G 77344808 2037 51 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGCTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT 77052346 77052516 77052465 77052466 77052466 exon 3 0.0357142857142857 TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGCTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 41 612 1 1 1 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00517580389873051 0.996342693084853 0.971540237456383 NA 0.0284597625436173 NA FALSE NA 0 -4.308 NA NA NA TSPAN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:77052466 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 splice_region_variant 1.006457 0.11622 0.03548 0.706548 0.546051006234828 0 0.284424065158703 FALSE 4.06157e-06 ENSE00000942843_021 ENSE00000942843 021 15 77344689 77344858 - 38 84 48 T A 77344829 2040 30 TTAACTTTTAAAGAACACTTCTAACGAGGTTGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT 77052346 77052516 77052486 77052487 77052487 upstr_intron -19 -0.375 TTAACTTTTAAAGAACACTTCTAACGAGGTTGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 143 266 1 0.999856801298746 0.999928400649373 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00503260519747639 0.996342693084853 0.971540237456383 NA 0.0283881631929903 NA FALSE NA 0.001 -0.375 . intron_variant MODIFIER TSPAN3 HGNC 17752 ENST00000346495 4/5 rs368936290 1 NA A:0 A:0.0001 ATC T,A 4.118e-05 15:77052487 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 intron_variant 2.166131 0.94201 0.17076 0.099367 0.880830831948376 0.393524 0.284424065158703 FALSE 0.000142217 ENSE00000942843_022 ENSE00000942843 022 15 77344689 77344858 - 38 84 48 C A 77344833 2041 26 TTAACTTTTAAAGAACACTTCTAACTAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT 77052346 77052516 77052490 77052491 77052491 upstr_intron -23 -0.458333333333333 TTAACTTTTAAAGAACACTTCTAACTAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 127 248 1 0.996550921598686 0.998275460799343 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA 0.0517437211885041 0.00172672549741637 0.996342693084853 0.971540237456383 NA 0.0267352233429602 NA FALSE NA 0 0.165 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:77052491 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 intron_variant 0.76698 0.1837 0.11715 0.099367 0.778061988323385 0.31044 0.284424065158703 FALSE 4.06488e-06 ENSE00000942843_023 ENSE00000942843 023 15 77344689 77344858 - 38 84 48 C T 77344833 2042 26 ACTCACTCCGATAGAACTCCTTGGCAAGCTGTGCTTACCTGAATAGCTGCAAATGCCAGTGCGGCCCAGATCACATGCATCATGATTTCTTGTAGCTTCTTCACTACTAGAGCCTCACACCCCTGTAACAAACACAGTCATCCTTGTTAGAAGTGTTCTTTAAAAGTTAA 77052346 77052516 77052490 77052491 77052491 upstr_intron -23 -0.458333333333333 TTAACTTTTAAAGAACACTTCTAACAAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant 14 14 0.995628234674716 0.999162117776843 0.99739517622578 28 213 1 1 1 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 0.00147052194308195 0.000634444338771578 0.0517437211885041 0.00517580389873051 0.996342693084853 0.971540237456383 0.00105248314092676 0.0284597625436173 0.0274072794026906 FALSE FALSE 0 0.165 NA NA NA TSPAN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN3 NA NA NA ENSG00000140391 ENSE00003597922 intron_variant 0.762705 0.18268 0.10168 0.099367 0.756743740123332 0.31044 0.284424065158703 FALSE 1.21946e-05 ENSE00000942843_024 ENSE00000942843 024 15 77344689 77344858 - 38 84 48 G A 77344834 2043 25 TTAACTTTTAAAGAACACTTCTAATGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT 77052346 77052516 77052491 77052492 77052492 upstr_intron -24 -0.479166666666667 TTAACTTTTAAAGAACACTTCTAATGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT mutant NA NA NA NA NA 1049 140 0.884578365322627 1 0.942289182661313 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 NA NA -0.063677913488869 0.00517580389873051 0.996342693084853 0.971540237456383 NA -0.0292510547950692 NA FALSE NA 0.001 -0.595 rs74025049 intron_variant MODIFIER TSPAN3 HGNC 17752 ENST00000346495 4/5 rs74025049 1 A:0.0092 A:0.031 A:0.0072 NA A:0 A:0 A:0 A:0.0168 A:0.0002 CGT G,A 0.002001 15:77052492 TSPAN3 HGNC Symbol protein_coding 42580 ENSG00000140391 ENSE00003597922 intron_variant 0.412779 0.15821 0.00788 0.099367 0.72810248632011 0.170616 0.284424065158703 FALSE 0.00159405 ENSE00000942843_BRK ENSE00000942843 BRK 15 77344689 77344858 - 38 84 48 A,G; T,T NA NA NA TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACTTGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGCCAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT 77052346 77052516 NA NA NA NA NA NA TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACTTGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGCCAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT TTAACTTTTAAAGAACACTTCTAACGAGGATGACTGTGTTTGTTACAGGGGTGTGAGGCTCTAGTAGTGAAGAAGCTACAAGAAATCATGATGCATGTGATCTGGGCCGCACTGGCATTTGCAGCTATTCAGGTAAGCACAGCTTGCCAAGGAGTTCTATCGGAGTGAGT control 14 10 0 0 0 94 34 0.0866027515598363 0 0.0433013757799182 0.994157712731634 0.998527673438072 0.948256278811496 0.994824196101269 -0.994157712731634 -0.998527673438072 -0.86165352725166 -0.994824196101269 0.996342693084853 0.971540237456383 -0.996342693084853 -0.928238861676465 0.0681038314083886 TRUE TRUE NA NA NA NA NA TSPAN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN3 NA NA NA ENSG00000140391 ENSE00003597922 NA NA NA NA NA NA NA 0.284424065158703 FALSE NA ENSE00000942887_000 ENSE00000942887 000 15 79264163 79264332 - 45 69 56 NA NA NA NA NA GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 NA NA NA NA NA NA TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC natural NA NA NA NA NA 569 464 0.997919449008114 0.994250074072084 0.996084761540099 NA NA 0.997919449008114 0.994250074072084 NA NA 0 0 NA 0.996084761540099 NA 0 NA FALSE NA NA NA NA NA NA RASGRF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASGRF1 NA NA NA ENSG00000058335 ENSE00000942887 NA NA NA NA NA NA NA 0.999614037089254 TRUE NA ENSE00000942887_001 ENSE00000942887 001 15 79264163 79264332 - 45 69 56 C T 79264200 2207 133 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCATAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971857 78971858 78971858 downstr_intron 8 1.18181818181818 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTATGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 529 290 1 0.97225169935893 0.986125849679465 NA NA 0.997919449008114 0.994250074072084 NA NA 0.0020805509918862 -0.0219983747131547 NA 0.996084761540099 NA -0.00995891186063425 NA FALSE NA 0 0.013 . downstream_gene_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 1 NA ACA C,T 8.236e-06 15:78971858 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 splice_region_variant 0.682246 0.23957 0.01115 0.074636 0.644820745672217 0.0455939 0.999614037089254 TRUE 4.06081e-06 ENSE00000942887_002 ENSE00000942887 002 15 79264163 79264332 - 45 69 56 G A 79264202 2208 131 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAACTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971859 78971860 78971860 downstr_intron 6 1.13636363636364 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGTTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 545 1126 1 0.995571878057372 0.997785939028686 NA NA 0.997919449008114 0.994250074072084 NA NA 0.0020805509918862 0.0013218039852877 NA 0.996084761540099 NA 0.00170117748858695 NA FALSE NA 0.206 0.274 . downstream_gene_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 1 NA AGC G,A 8.236e-06 15:78971860 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 splice_region_variant 0.169863 0.18699 0.02113 0.074636 0.651830177304388 0.0528747 0.999614037089254 TRUE 4.06078e-06 ENSE00000942887_004 ENSE00000942887 004 15 79264163 79264332 - 45 69 56 C T 79264234 2210 99 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGTAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971891 78971892 78971892 exon -27 0.623188405797101 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTACCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 249 217 0.97151670599964 1 0.98575835299982 NA NA 0.997919449008114 0.994250074072084 NA NA -0.0264027430084733 0.00574992592791557 NA 0.996084761540099 NA -0.0103264085402789 NA FALSE NA 0.43 1.758 . downstream_gene_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 1 NA GCA C,T 4.118e-05 15:78971892 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 missense_variant 4.364401 0.97055 0.7601 0.638212 0.984735412114009 0 0.999614037089254 TRUE 4.06058e-05 ENSE00000942887_006 ENSE00000942887 006 15 79264163 79264332 - 45 69 56 G C 79264252 2212 81 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCCAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971909 78971910 78971910 exon 25 0.36231884057971 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTGGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 803 350 0.999589280990807 1 0.999794640495403 NA NA 0.997919449008114 0.994250074072084 NA NA 0.00166983198269299 0.00574992592791557 NA 0.996084761540099 NA 0.00370987895530428 NA FALSE NA 1 1.855 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:78971910 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 missense_variant 6.550882 0.9805 0.92376 0.693126 0.998315868241234 0 0.999614037089254 TRUE 4.06058e-06 ENSE00000942887_007 ENSE00000942887 007 15 79264163 79264332 - 45 69 56 G A 79264252 2213 81 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCAAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971909 78971910 78971910 exon 25 0.36231884057971 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTTGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 424 2321 0.998927421478137 0.991611558588721 0.995269490033429 NA NA 0.997919449008114 0.994250074072084 NA NA 0.00100797247002293 -0.00263851548336325 NA 0.996084761540099 NA -0.000815271506670157 NA FALSE NA 1 1.855 NA NA NA RASGRF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASGRF1 NA NA NA ENSG00000058335 ENSE00000942887 missense_variant 7.274945 0.97979 0.90824 0.693126 0.999118375341698 0 0.999614037089254 TRUE 6.90299e-05 ENSE00000942887_010 ENSE00000942887 010 15 79264163 79264332 - 45 69 56 A C 79264266 2216 67 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATACTATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971923 78971924 78971924 exon 11 0.159420289855072 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATAGTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 389 504 0.987324936561413 1 0.993662468280706 NA NA 0.997919449008114 0.994250074072084 NA NA -0.010594512446701 0.00574992592791557 NA 0.996084761540099 NA -0.00242229325939269 NA FALSE NA 1 8.834 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 3/3 COSM1374825 1 NA AAT A,C 8.236e-06 15:78971924 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 missense_variant 6.055854 0.98937 0.98787 0.693126 0.994157397497379 0 0.999614037089254 TRUE 4.06058e-06 ENSE00000942887_011 ENSE00000942887 011 15 79264163 79264332 - 45 69 56 A T 79264273 2217 60 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGTTATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971930 78971931 78971931 exon 4 0.0579710144927536 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATAACCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 22 261 1 0.994727736936595 0.997363868468298 NA NA 0.997919449008114 0.994250074072084 NA NA 0.0020805509918862 0.000477662864510897 NA 0.996084761540099 NA 0.00127910692819855 NA FALSE NA 1 8.834 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 3/3 1 NA GAT A,T 1.647e-05 15:78971931 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 missense_variant 4.196273 0.98982 0.98737 0.693126 0.990941718011896 0 0.999614037089254 TRUE 8.12123e-06 ENSE00000942887_012 ENSE00000942887 012 15 79264163 79264332 - 45 69 56 T C 79264276 2218 57 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATACCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971933 78971934 78971934 exon 1 0.0144927536231884 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGGTATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 113 57 1 1 1 NA NA 0.997919449008114 0.994250074072084 NA NA 0.0020805509918862 0.00574992592791557 NA 0.996084761540099 NA 0.00391523845990088 NA FALSE NA 1 7.612 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW RASGRF1 HGNC 9875 ENST00000559926 3/3 1 NA ATC T,C 8.236e-06 15:78971934 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 missense_variant 2.021292 0.98937 0.97783 0.693126 0.997956074347851 0 0.999614037089254 TRUE 4.06058e-06 ENSE00000942887_013 ENSE00000942887 013 15 79264163 79264332 - 45 69 56 A C 79264288 2219 45 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGCAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971945 78971946 78971946 upstr_intron -12 -0.196428571428571 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTGCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 208 942 1 0.999391688620826 0.999695844310413 NA NA 0.997919449008114 0.994250074072084 NA NA 0.0020805509918862 0.00514161454874196 NA 0.996084761540099 NA 0.00361108277031408 NA FALSE NA 0.048 0.831 . intron_variant&non_coding_transcript_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 2/2 1 NA GAA A,C 8.236e-06 15:78971946 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 intron_variant -0.331001 0.15309 0.111 0.074388 0.584633298440059 0.0605817 0.999614037089254 TRUE NA ENSE00000942887_014 ENSE00000942887 014 15 79264163 79264332 - 45 69 56 G A 79264290 2220 43 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAAGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971947 78971948 78971948 upstr_intron -14 -0.232142857142857 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCTTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 60 162 1 1 1 NA NA 0.997919449008114 0.994250074072084 NA NA 0.0020805509918862 0.00574992592791557 NA 0.996084761540099 NA 0.00391523845990088 NA FALSE NA 0.009 0.797 . intron_variant&non_coding_transcript_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 2/2 1 NA AGG G,A 5.765e-05 15:78971948 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 intron_variant 0.10171 0.17394 0.00556 0.074388 0.291013635476826 0.0605817 0.999614037089254 TRUE 7.30929e-05 ENSE00000942887_015 ENSE00000942887 015 15 79264163 79264332 - 45 69 56 G T 79264295 2221 38 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTTTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971952 78971953 78971953 upstr_intron -19 -0.321428571428571 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAAAACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 586 147 0.794765209543156 0.986628091638572 0.890696650590864 NA NA 0.997919449008114 0.994250074072084 NA NA -0.203154239464957 -0.00762198243351231 NA 0.996084761540099 NA -0.105388110949235 NA FALSE NA 0 -0.902 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:78971953 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 intron_variant -0.681044 0.10542 0.02523 0.074388 0.340225729731769 0.0605817 0.999614037089254 TRUE 4.06068e-06 ENSE00000942887_016 ENSE00000942887 016 15 79264163 79264332 - 45 69 56 G A 79264295 2222 38 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTATTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971952 78971953 78971953 upstr_intron -19 -0.321428571428571 TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAATACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant 20 30 0.950920079188736 0.992781627766246 0.971850853477491 200 337 1 1 1 NA NA 0.997919449008114 0.994250074072084 NA NA 0.0020805509918862 0.00574992592791557 NA 0.996084761540099 NA 0.00391523845990088 NA FALSE NA 0 -0.902 NA NA NA RASGRF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASGRF1 NA NA NA ENSG00000058335 ENSE00000942887 intron_variant -0.440322 0.11322 0.03431 0.074388 0.377156854294958 0.0605817 0.999614037089254 TRUE 4.06068e-06 ENSE00000942887_017 ENSE00000942887 017 15 79264163 79264332 - 45 69 56 G A 79264301 2223 32 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAAAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971958 78971959 78971959 upstr_intron -25 -0.428571428571429 TGGGGGTGGAACTAGGAGAGCAAACTGCATTTTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 481 1821 0.991535389298399 0.994571562623595 0.993053475960997 NA NA 0.997919449008114 0.994250074072084 NA NA -0.00638405970971434 0.000321488551510707 NA 0.996084761540099 NA -0.00303128557910182 NA FALSE NA 0 0.864 . intron_variant&non_coding_transcript_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 2/2 1 NA AGA G,A 8.236e-06 15:78971959 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 intron_variant 0.134359 0.15152 0.01923 0.074388 0.343444934458051 0.0605817 0.999614037089254 TRUE 8.12189e-06 ENSE00000942887_019 ENSE00000942887 019 15 79264163 79264332 - 45 69 56 T C 79264310 2225 23 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTCTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 78971967 78971968 78971968 upstr_intron -34 -0.589285714285714 TGGGGGTGGAACTAGGAGAGCAGACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant 14 11 1 1 1 778 902 0.887758563290772 0.997919279750759 0.942838921520766 NA NA 0.997919449008114 0.994250074072084 NA NA -0.110160885717341 0.00366920567867468 NA 0.996084761540099 NA -0.0532458400193334 NA FALSE NA 0 -1.201 . intron_variant&non_coding_transcript_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 2/2 rs567529681 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTT T,C 8.236e-06 15:78971968 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 intron_variant 0.09337 0.1298 0.00175 0.074388 0.505353984474672 0.0605817 0.999614037089254 TRUE 4.06098e-06 ENSE00000942887_021 ENSE00000942887 021 15 79264163 79264332 - 45 69 56 T C 79264319 2227 14 GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTACCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATCTGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCCAGTTCCACCCCCA 78971820 78971990 78971976 78971977 78971977 upstr_intron -43 -0.75 TGGGGGTGGAACTGGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC mutant NA NA NA NA NA 358 534 1 1 1 NA NA 0.997919449008114 0.994250074072084 NA NA 0.0020805509918862 0.00574992592791557 NA 0.996084761540099 NA 0.00391523845990088 NA FALSE NA 0 -1.199 . intron_variant&non_coding_transcript_variant MODIFIER RASGRF1 HGNC 9875 ENST00000559926 2/2 1 NA CTA T,C 8.236e-06 15:78971977 RASGRF1 HGNC Symbol protein_coding 130826 ENSG00000058335 ENSE00000942887 intron_variant -0.011854 0.14838 0.01524 0.074388 0.369565854581068 0.0386214 0.999614037089254 TRUE 1.62463e-05 ENSE00000942887_BRK ENSE00000942887 BRK 15 79264163 79264332 - 45 69 56 A,G; T,T NA NA NA GCCACTGTGAAAGCATGCAAGTGACCAGGAAAAGGCACAGCTTGGCTTTGCTTGGTGCTCTATTTTGTAGGCAGTTTGTTGAAACTGGCGAATCTCTCGGATAATATGGGATATAAGTGGGAAGGAAGGAGTGTTTCAGAATGCAGTTTGCTCTCCTAGTTCCACCCCCA 78971820 78971990 NA NA NA NA NA NA TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACTTATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGCCAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC TGGGGGTGGAACTAGGAGAGCAAACTGCATTCTGAAACACTCCTTCCTTCCCACAGATATCCCATATTATCCGAGAGATTCGCCAGTTTCAACAAACTGCCTACAAAATAGAGCACCAAGCAAAGGTAAGCTGTGCCTTTTCCTGGTCACTTGCATGCTTTCACAGTGGC control NA NA NA NA NA 147 375 0 0 0 NA NA 0.997919449008114 0.994250074072084 NA NA -0.997919449008114 -0.994250074072084 NA 0.996084761540099 NA -0.996084761540099 NA TRUE NA NA NA NA NA NA RASGRF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASGRF1 NA NA NA ENSG00000058335 ENSE00000942887 NA NA NA NA NA NA NA 0.999614037089254 TRUE NA ENSE00000943447_000 ENSE00000943447 000 15 75146332 75146501 - 30 99 41 NA NA NA NA NA GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 NA NA NA NA NA NA GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC natural 57 71 0.996603529948695 0.995204003785051 0.995903766866873 1907 856 0.965935379345815 0.993299526456311 0.979617452901063 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 0 0 0 0 0.995903766866873 0.979617452901063 0 0 0 FALSE FALSE NA NA NA NA NA SCAMP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCAMP2 NA NA NA ENSG00000140497 ENSE00003466413 NA NA NA NA NA NA NA 0.383700654337713 FALSE NA ENSE00000943447_001 ENSE00000943447 001 15 75146332 75146501 - 30 99 41 T C 75146350 1937 152 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACGAAGAACTCTGGCCTTTTC 74853990 74854160 74854008 74854009 74854009 downstr_intron 12 1.41379310344828 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACGAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant 15 10 0.998000656515046 1 0.999000328257523 1001 1314 1 0.942766117790249 0.971383058895125 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 0.00139712656635049 0.00479599621494908 0.0340646206541853 -0.0505334086660619 0.995903766866873 0.979617452901063 0.00309656139064979 -0.00823439400593834 0.0113309553965881 FALSE FALSE 0 0.205 . intron_variant MODIFIER SCAMP2 HGNC 10564 ENST00000564529 3/6 1 NA TTG T,C 8.236e-06 15:74854009 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 non_coding_transcript_exon_variant -0.078512 0.18592 0.14063 0.283894 0.421350384545684 0.114053 0.383700654337713 FALSE 4.06184e-06 ENSE00000943447_003 ENSE00000943447 003 15 75146332 75146501 - 30 99 41 T C 75146363 1939 139 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCGGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854021 74854022 74854022 exon -2 0.98989898989899 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCGGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant 57 59 0.85 0.85 0.85 265 228 0.030055167255428 0.178623049745142 0.104339108500285 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 -0.146603529948695 -0.145204003785051 -0.935880212090387 -0.814676476711169 0.995903766866873 0.979617452901063 -0.145903766866873 -0.875278344400778 0.729374577533905 TRUE FALSE 1 6.066 . missense_variant&splice_region_variant MODERATE SCAMP2 HGNC 10564 ENST00000564529 3/7 1 tolerated(0.24) possibly_damaging(0.767) NA CTG T,C 2.471e-05 15:74854022 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 missense_variant 2.422719 0.98785 0.99241 0.706298 0.992724192256186 0 0.383700654337713 FALSE 1.21848e-05 ENSE00000943447_005 ENSE00000943447 005 15 75146332 75146501 - 30 99 41 G T 75146366 1941 136 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCACCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854024 74854025 74854025 exon -5 0.95959595959596 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCACCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant NA NA NA NA NA 89 24 1 1 1 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 NA NA 0.0340646206541853 0.00670047354368886 0.995903766866873 0.979617452901063 NA 0.0203825470989371 NA FALSE NA 1 7.399 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:74854025 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 missense_variant 6.158659 0.99092 0.99559 0.706298 0.997014441312684 0 0.383700654337713 FALSE 0.0209193 ENSE00000943447_006 ENSE00000943447 006 15 75146332 75146501 - 30 99 41 G A 75146366 1942 136 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCTCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854024 74854025 74854025 exon -5 0.95959595959596 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCTCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant NA NA NA NA NA 583 1822 0.992361803718307 0.999434039717364 0.995897921717836 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 NA NA 0.0264264243724925 0.00613451326105297 0.995903766866873 0.979617452901063 NA 0.0162804688167728 NA FALSE NA 1 7.399 NA NA NA SCAMP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCAMP2 NA NA NA ENSG00000140497 ENSE00003466413 missense_variant 5.007243 0.99059 0.99499 0.706298 0.997342343965933 0 0.383700654337713 FALSE 8.12242e-06 ENSE00000943447_007 ENSE00000943447 007 15 75146332 75146501 - 30 99 41 C T 75146371 1943 131 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCAACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854029 74854030 74854030 exon -10 0.909090909090909 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCAACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant NA NA NA NA NA 857 38 0.996839347763248 1 0.998419673881624 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 NA NA 0.0309039684174335 0.00670047354368886 0.995903766866873 0.979617452901063 NA 0.0188022209805612 NA FALSE NA 0.99 0.241 rs77456595 synonymous_variant LOW SCAMP2 HGNC 10564 ENST00000564529 3/7 rs77456595 1 T:0.0148 T:0.0023 T:0.0216 NA T:0.001 T:0.0487 T:0.0061 T:0.0098 T:0.0449 TCG C,T 0.034 15:74854030 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 synonymous_variant 2.21864 0.1513 0.11304 0.706298 0.579552005316696 0 0.383700654337713 FALSE 0.035202 ENSE00000943447_009 ENSE00000943447 009 15 75146332 75146501 - 30 99 41 G T 75146377 1945 125 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACACAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854035 74854036 74854036 exon -16 0.848484848484849 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACACAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant 24 10 0.990913497522644 1 0.995456748761322 18 49 1 0.967224555941993 0.983612277970996 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 -0.00569003242605171 0.00479599621494908 0.0340646206541853 -0.0260749705143183 0.995903766866873 0.979617452901063 -0.000447018105551311 0.00399482506993348 0.00444184317548479 FALSE FALSE 0.26 -0.465 . synonymous_variant LOW SCAMP2 HGNC 10564 ENST00000564529 3/7 1 NA GGG G,T 9.06e-05 15:74854036 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 synonymous_variant 0.647421 0.93557 0.5849 0.706298 0.70722758311601 0 0.383700654337713 FALSE 0.000134011 ENSE00000943447_011 ENSE00000943447 011 15 75146332 75146501 - 30 99 41 G C 75146381 1947 121 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACGAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854039 74854040 74854040 exon -20 0.808080808080808 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACGAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant NA NA NA NA NA 124 19 1 1 1 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 NA NA 0.0340646206541853 0.00670047354368886 0.995903766866873 0.979617452901063 NA 0.0203825470989371 NA FALSE NA 1 5.91 . missense_variant MODERATE SCAMP2 HGNC 10564 ENST00000564529 3/7 rs202198269 1 deleterious(0.02) benign(0.373) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TGG G,C 4.118e-05 15:74854040 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 missense_variant 3.091899 0.99095 0.99493 0.706298 0.997641365902886 0 0.383700654337713 FALSE 4.46715e-05 ENSE00000943447_013 ENSE00000943447 013 15 75146332 75146501 - 30 99 41 G A 75146405 1949 97 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGTGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854063 74854064 74854064 exon -44 0.565656565656566 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGTGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant 92 190 0.875349474470656 0.870352860215957 0.872851167343306 326 484 0.928947589155825 0.857870437277415 0.89340901321662 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 -0.12125405547804 -0.124851143569094 -0.0369877901899895 -0.135429089178896 0.995903766866873 0.979617452901063 -0.123052599523567 -0.0862084396844428 0.0368441598391242 FALSE FALSE 1 7.334 rs139056887 missense_variant MODERATE SCAMP2 HGNC 10564 ENST00000564529 3/7 rs139056887 1 deleterious(0.04) benign(0.21) NA A:0.0002 A:0.0003 CGC G,A 0.0006095 15:74854064 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 missense_variant 6.897481 0.9898 0.99505 0.706298 0.99917329133737 0 0.383700654337713 FALSE 0.000625391 ENSE00000943447_016 ENSE00000943447 016 15 75146332 75146501 - 30 99 41 C T 75146421 1952 81 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTAGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854079 74854080 74854080 exon 40 0.404040404040404 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTAGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant 112 114 0.840149579608868 0.85 0.845074789804434 132 1157 0.8 0.612129116673402 0.706064558336701 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 -0.156453950339827 -0.145204003785051 -0.165935379345815 -0.381170409782909 0.995903766866873 0.979617452901063 -0.150828977062439 -0.273552894564362 0.122723917501923 FALSE FALSE 0.998 3.632 . missense_variant MODERATE SCAMP2 HGNC 10564 ENST00000564529 3/7 rs567314841 1 deleterious(0.02) benign(0.438) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCA C,T 4.118e-05 15:74854080 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 missense_variant 3.715285 0.97823 0.93724 0.706548 0.997642979035669 0 0.383700654337713 FALSE 3.24878e-05 ENSE00000943447_017 ENSE00000943447 017 15 75146332 75146501 - 30 99 41 G A 75146431 1953 71 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACTCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854089 74854090 74854090 exon 30 0.303030303030303 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACTCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant 44 22 0.970660027904135 0.973613893153428 0.972136960528782 40 31 0.99792397139491 0.94529061778726 0.971607294591085 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 -0.02594350204456 -0.0215901106316233 0.0319885920490957 -0.0480089086690508 0.995903766866873 0.979617452901063 -0.0237668063380916 -0.00801015830997759 0.0157566480281141 FALSE FALSE 0.028 -1.41 . synonymous_variant LOW SCAMP2 HGNC 10564 ENST00000564529 3/7 1 NA GGG G,A 8.237e-06 15:74854090 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 synonymous_variant 1.163938 0.14917 0.06763 0.706548 0.588768075227518 0 0.383700654337713 FALSE 4.06101e-06 ENSE00000943447_018 ENSE00000943447 018 15 75146332 75146501 - 30 99 41 G A 75146439 1954 63 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTTCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854097 74854098 74854098 exon 22 0.222222222222222 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTTCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant 83 124 0.85 0.85 0.85 183 19 0.858522929454304 0.8 0.829261464727152 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 -0.146603529948695 -0.145204003785051 -0.107412449891511 -0.193299526456311 0.995903766866873 0.979617452901063 -0.145903766866873 -0.150355988173911 0.00445222130703771 FALSE FALSE 1 6.236 . missense_variant MODERATE SCAMP2 HGNC 10564 ENST00000564529 3/7 1 tolerated(0.08) possibly_damaging(0.674) NA GGA G,A 1.647e-05 15:74854098 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 missense_variant 2.938776 0.99079 0.9947 0.706548 0.995700636884296 0 0.383700654337713 FALSE 8.12203e-06 ENSE00000943447_019 ENSE00000943447 019 15 75146332 75146501 - 30 99 41 C T 75146449 1955 53 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCAACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854107 74854108 74854108 exon 12 0.121212121212121 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCAACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant NA NA NA NA NA 443 102 1 0.990512244480531 0.995256122240266 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 NA NA 0.0340646206541853 -0.00278728197577982 0.995903766866873 0.979617452901063 NA 0.0156386693392027 NA FALSE NA 0 -4.968 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:74854108 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 synonymous_variant 2.282075 0.17206 0.02167 0.706548 0.391431660647995 0 0.383700654337713 FALSE 5.27949e-05 ENSE00000943447_020 ENSE00000943447 020 15 75146332 75146501 - 30 99 41 C G 75146449 1956 53 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCCACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854107 74854108 74854108 exon 12 0.121212121212121 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCCACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant NA NA NA NA NA 163 533 0.95 0.968102519455182 0.959051259727591 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 NA NA -0.0159353793458149 -0.0251970070011288 0.995903766866873 0.979617452901063 NA -0.0205661931734719 NA FALSE NA 0 -4.968 NA NA NA SCAMP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCAMP2 NA NA NA ENSG00000140497 ENSE00003466413 synonymous_variant 1.696337 0.1922 0.06714 0.706548 0.409654745293988 0 0.383700654337713 FALSE 4.06114e-06 ENSE00000943447_021 ENSE00000943447 021 15 75146332 75146501 - 30 99 41 G A 75146450 1957 52 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGTGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854108 74854109 74854109 exon 11 0.111111111111111 GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGTGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant 64 58 0.88405783850858 0.927172423659268 0.905615131083924 14 411 0.954273560890981 0.981731348817316 0.968002454854149 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 -0.112545691440116 -0.0680315801257829 -0.0116618184548333 -0.0115681776389955 0.995903766866873 0.979617452901063 -0.0902886357829494 -0.0116149980469144 0.078673637736035 FALSE FALSE 1 4.448 . missense_variant MODERATE SCAMP2 HGNC 10564 ENST00000564529 3/7 rs200893940 1 tolerated(0.08) possibly_damaging(0.629) A:0.0006 A:0.0015 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0001 CGC G,A 0.0002306 15:74854109 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 missense_variant 2.296124 0.94759 0.97331 0.706548 0.969326572369002 0 0.383700654337713 FALSE 0.00027616 ENSE00000943447_024 ENSE00000943447 024 15 75146332 75146501 - 30 99 41 G A 75146485 1960 17 GGAGTCCCACTCAATTTTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854143 74854144 74854144 upstr_intron -25 -0.585365853658537 GGAGTCCCACTCAATTTTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant NA NA NA NA NA 18 216 1 1 1 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 NA NA 0.0340646206541853 0.00670047354368886 0.995903766866873 0.979617452901063 NA 0.0203825470989371 NA FALSE NA 0 0.464 rs187010506 intron_variant MODIFIER SCAMP2 HGNC 10564 ENST00000564529 2/6 rs187010506 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGA G,A 0.0004448 15:74854144 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 intron_variant 0.070921 0.18511 0.09157 0.062308 0.409434759510895 0.0470869 0.383700654337713 FALSE 0.000695603 ENSE00000943447_026 ENSE00000943447 026 15 75146332 75146501 - 30 99 41 G A 75146490 1962 12 GGAGTCCCACTTAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 74854148 74854149 74854149 upstr_intron -30 -0.707317073170732 GGAGTCCCACTTAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC mutant NA NA NA NA NA 375 133 1 1 1 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 NA NA 0.0340646206541853 0.00670047354368886 0.995903766866873 0.979617452901063 NA 0.0203825470989371 NA FALSE NA 0.091 0.786 . intron_variant MODIFIER SCAMP2 HGNC 10564 ENST00000564529 2/6 rs370666458 1 NA A:0.0002 A:0 TGA G,A 1.647e-05 15:74854149 SCAMP2 HGNC Symbol protein_coding 29635 ENSG00000140497 ENSE00003466413 intron_variant 0.294223 0.27029 0.159 0.062308 0.538119635277804 0.0470869 0.383700654337713 FALSE 4.0714e-05 ENSE00000943447_BRK ENSE00000943447 BRK 15 75146332 75146501 - 30 99 41 A,G; T,T NA NA NA GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTTTACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGCCAGTGCTGACAAAGAACTCTGGCCTTTTC 74853990 74854160 NA NA NA NA NA NA GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTTTACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGCCAGTGCTGACAAAGAACTCTGGCCTTTTC GGAGTCCCACTCAATTCTGTCTTTTGATTTGTTCCATGTAGACAAATGCAGCGACAACAGTTCCTGTCACCCAACTCCCTGGGTCCTCACAGCCAGCGGTTCTCCAGCCATCAGTGGAACCAACCCAGCCGACCCCCCAGGTAGTGCTGACAAAGAACTCTGGCCTTTTC control 399 93 0 0.0498211439305629 0.0249105719652815 NA NA NA NA NA 0.996603529948695 0.995204003785051 0.965935379345815 0.993299526456311 -0.996603529948695 -0.945382859854488 NA NA 0.995903766866873 0.979617452901063 -0.970993194901592 NA NA NA TRUE NA NA NA NA NA SCAMP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCAMP2 NA NA NA ENSG00000140497 ENSE00003466413 NA NA NA NA NA NA NA 0.383700654337713 FALSE NA ENSE00000943886_000 ENSE00000943886 000 15 91419650 91419819 + 42 96 32 NA NA NA NA NA AGGAGGTCCCAGCAGCGAAGAAGGCCACGTACCAGGTACCACTGCTGAGGAAACTTGGGGTCTGTGGGCTCCTGGTACACGTCCCGTTTAGTCCGTCGCTTTGCCACCTGCTGTTCCAGCCACTGTACCTGTGGGGGAGTGAGGGAGAGATGGTGTGGGTGGAGCAGGAG 90876419 90876589 NA NA NA NA NA NA CTCCTGCTCCACCCACACCATCTCTCCCTCACTCCCCCACAGGTACAGTGGCTGGAACAGCAGGTGGCAAAGCGACGGACTAAACGGGACGTGTACCAGGAGCCCACAGACCCCAAGTTTCCTCAGCAGTGGTACCTGGTACGTGGCCTTCTTCGCTGCTGGGACCTCCT CTCCTGCTCCACCCACACCATCTCTCCCTCACTCCCCCACAGGTACAGTGGCTGGAACAGCAGGTGGCAAAGCGACGGACTAAACGGGACGTGTACCAGGAGCCCACAGACCCCAAGTTTCCTCAGCAGTGGTACCTGGTACGTGGCCTTCTTCGCTGCTGGGACCTCCT natural 29 45 0.952158081797339 0.943933489064337 0.948045785430838 85 233 1 0.960408470480919 0.980204235240459 0.952158081797339 0.943933489064337 1 0.960408470480919 0 0 0 0 0.948045785430838 0.980204235240459 0 0 0 FALSE FALSE NA NA NA NA NA FURIN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FURIN NA NA NA ENSG00000140564 ENSE00000943886 NA NA NA NA NA NA NA 0.999933300929352 TRUE NA ENSE00000943886_001 ENSE00000943886 001 15 91419650 91419819 + 42 96 32 C T 91419665 2457 16 AGGAGGTCCCAGCAGCGAAGAAGGCCACGTACCAGGTACCACTGCTGAGGAAACTTGGGGTCTGTGGGCTCCTGGTACACGTCCCGTTTAGTCCGTCGCTTTGCCACCTGCTGTTCCAGCCACTGTACCTGTGGGGGAGTGAGGGAGAGATGGTATGGGTGGAGCAGGAG 90876419 90876589 90876434 90876435 90876435 upstr_intron -27 -0.619047619047619 CTCCTGCTCCACCCATACCATCTCTCCCTCACTCCCCCACAGGTACAGTGGCTGGAACAGCAGGTGGCAAAGCGACGGACTAAACGGGACGTGTACCAGGAGCCCACAGACCCCAAGTTTCCTCAGCAGTGGTACCTGGTACGTGGCCTTCTTCGCTGCTGGGACCTCCT CTCCTGCTCCACCCACACCATCTCTCCCTCACTCCCCCACAGGTACAGTGGCTGGAACAGCAGGTGGCAAAGCGACGGACTAAACGGGACGTGTACCAGGAGCCCACAGACCCCAAGTTTCCTCAGCAGTGGTACCTGGTACGTGGCCTTCTTCGCTGCTGGGACCTCCT mutant NA NA NA NA NA 114 383 1 0.99668207146196 0.99834103573098 0.952158081797339 0.943933489064337 1 0.960408470480919 NA NA 0 0.0362736009810409 0.948045785430838 0.980204235240459 NA 0.0181368004905205 NA FALSE NA 0.001 -0.015 . upstream_gene_variant MODIFIER FURIN HGNC 8568 ENST00000558794 1 NA ACA C,T 8.237e-06 15:90876435 FURIN HGNC Symbol protein_coding 14866 ENSG00000140564 ENSE00000943886 intron_variant 0.456822 0.75722 0.25052 0.160901 0.740943712875725 0.24247 0.999933300929352 TRUE 4.06971e-06 ENSE00000943886_006 ENSE00000943886 006 15 91419650 91419819 + 42 96 32 C G 91419701 2462 52 AGGAGGTCCCAGCAGCGAAGAAGGCCACGTACCAGGTACCACTGCTGAGGAAACTTGGGGTCTGTGGGCTCCTGGTACACGTCCCGTTTAGTCCGTCGCTTTGCCACCTGCTGTTCCACCCACTGTACCTGTGGGGGAGTGAGGGAGAGATGGTGTGGGTGGAGCAGGAG 90876419 90876589 90876470 90876471 90876471 exon 10 0.104166666666667 CTCCTGCTCCACCCACACCATCTCTCCCTCACTCCCCCACAGGTACAGTGGGTGGAACAGCAGGTGGCAAAGCGACGGACTAAACGGGACGTGTACCAGGAGCCCACAGACCCCAAGTTTCCTCAGCAGTGGTACCTGGTACGTGGCCTTCTTCGCTGCTGGGACCTCCT CTCCTGCTCCACCCACACCATCTCTCCCTCACTCCCCCACAGGTACAGTGGCTGGAACAGCAGGTGGCAAAGCGACGGACTAAACGGGACGTGTACCAGGAGCCCACAGACCCCAAGTTTCCTCAGCAGTGGTACCTGGTACGTGGCCTTCTTCGCTGCTGGGACCTCCT mutant NA NA NA NA NA 117 240 0 0 0 0.952158081797339 0.943933489064337 1 0.960408470480919 NA NA -1 -0.960408470480919 0.948045785430838 0.980204235240459 NA -0.980204235240459 NA TRUE NA 1 2.251 . upstream_gene_variant MODIFIER FURIN HGNC 8568 ENST00000558794 1 NA GCT C,G 1.647e-05 15:90876471 FURIN HGNC Symbol protein_coding 14866 ENSG00000140564 ENSE00000943886 missense_variant 1.11786 0.94923 0.91955 0.706548 0.948612382316793 0 0.999933300929352 TRUE 1.22014e-05 ENSE00000944209_000 ENSE00000944209 000 16 4872825 4872994 - 51 57 62 NA NA NA NA NA GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 NA NA NA NA NA NA GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT natural 818 1008 0.845969021131735 0.836819655992699 0.841394338562217 2773 2343 0.810247313951701 0.651110395194369 0.730678854573035 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0 0 0 0 0.841394338562217 0.730678854573035 0 0 0 FALSE FALSE NA NA NA NA NA GLYR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLYR1 NA NA NA ENSG00000140632 ENSE00003507242 NA NA NA NA NA NA NA 0.999877719491225 TRUE NA ENSE00000944209_001 ENSE00000944209 001 16 4872825 4872994 - 51 57 62 C T 4872840 427 155 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGAGGCTGGCCAAGGAGT 4822823 4822993 4822838 4822839 4822839 downstr_intron 36 1.72 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGAGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 120 212 0.85 0.85 0.85 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0131803440073006 NA NA 0.841394338562217 0.730678854573035 0.00860566143778296 NA NA NA FALSE 0 0.445 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 7/15 rs551987437 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCC C,T 1.647e-05 16:4822839 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.517762 0.29493 0.16772 0.295142 0.779495977830474 0.0723313 0.999877719491225 TRUE 1.21886e-05 ENSE00000944209_002 ENSE00000944209 002 16 4872825 4872994 - 51 57 62 G C 4872843 428 152 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTGAGGGGCTGGCCAAGGAGT 4822823 4822993 4822841 4822842 4822842 downstr_intron 33 1.66 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTGAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 249 171 0.85 0.755084880268205 0.802542440134103 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 -0.0817347757244939 NA NA 0.841394338562217 0.730678854573035 -0.0388518984281143 NA NA NA FALSE 0 -0.391 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 7/15 rs371410197 1 NA C:0.0005 C:0 TGA G,C 2.471e-05 16:4822842 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant -0.040553 0.15017 0.01761 0.295142 0.661228737751692 0.0723313 0.999877719491225 TRUE 2.84375e-05 ENSE00000944209_003 ENSE00000944209 003 16 4872825 4872994 - 51 57 62 C A 4872845 429 150 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGTTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822843 4822844 4822844 downstr_intron 31 1.62 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGTTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 138 122 0.85 0.752511018164114 0.801255509082057 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826542 -0.0843086378285854 NA NA 0.841394338562217 0.730678854573035 -0.04013882948016 NA NA NA FALSE 0 -0.246 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4822844 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.341574 0.15091 0.03867 0.295142 0.707118917835061 0.0723313 0.999877719491225 TRUE 1.21869e-05 ENSE00000944209_004 ENSE00000944209 004 16 4872825 4872994 - 51 57 62 C T 4872845 430 150 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGATCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822843 4822844 4822844 downstr_intron 31 1.62 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGATCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 51 44 0.85 0.85 0.85 170 354 0.8 0.8 0.8 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0131803440073006 -0.0102473139517012 0.148889604805631 0.841394338562217 0.730678854573035 0.00860566143778296 0.0693211454269647 0.0607154839891818 FALSE FALSE 0 -0.246 NA NA NA GLYR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLYR1 NA NA NA ENSG00000140632 ENSE00003507242 intron_variant 0.348106 0.16069 0.05783 0.295142 0.643825419469078 0.0723313 0.999877719491225 TRUE 1.62492e-05 ENSE00000944209_005 ENSE00000944209 005 16 4872825 4872994 - 51 57 62 A G 4872854 431 141 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTCGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822852 4822853 4822853 downstr_intron 22 1.44 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTCGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 132 147 0.828954567617439 0.85 0.839477283808719 147 617 0.745507654999703 0.800234018112605 0.772870836556154 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.0170144535142958 0.0131803440073006 -0.0647396589519981 0.149123622918236 0.841394338562217 0.730678854573035 -0.00191705475349757 0.0421919819831188 0.0441090367366164 FALSE FALSE 0 0.024 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 7/15 rs200251882 1 G:0.0006 G:0 G:0 NA G:0.003 G:0 G:0 CAA A,G 0.0003624 16:4822853 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.052879 0.15635 0.06895 0.295142 0.657753186769475 0.0729123 0.999877719491225 TRUE 0.000361492 ENSE00000944209_006 ENSE00000944209 006 16 4872825 4872994 - 51 57 62 G A 4872858 432 137 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGTTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822856 4822857 4822857 downstr_intron 18 1.36 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGTTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 58 53 0.85 0.85 0.85 54 210 0.835226696063313 0.911051971192284 0.873139333627798 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0131803440073006 0.0249793821116118 0.259941575997914 0.841394338562217 0.730678854573035 0.00860566143778296 0.142460479054763 0.13385481761698 FALSE FALSE 0 -0.116 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 7/15 rs527894721 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGC G,A 8.236e-06 16:4822857 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.154739 0.16152 0.00833 0.295142 0.375137702417612 0.0564085 0.999877719491225 TRUE 4.06141e-06 ENSE00000944209_007 ENSE00000944209 007 16 4872825 4872994 - 51 57 62 G A 4872867 433 128 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGTCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822865 4822866 4822866 downstr_intron 9 1.18 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGTCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 76 101 0.82805584499788 0.85 0.83902792249894 937 281 0.856576309269242 0.841023010936407 0.848799660102824 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.0179131761338548 0.0131803440073006 0.0463289953175409 0.189912615742037 0.841394338562217 0.730678854573035 -0.00236641606327709 0.118120805529789 0.120487221593066 FALSE FALSE 0.012 0.192 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 7/15 1 NA GGC G,A 8.236e-06 16:4822866 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.244177 0.09325 0.01311 0.295142 0.410946592680785 0.136282 0.999877719491225 TRUE 4.06138e-06 ENSE00000944209_008 ENSE00000944209 008 16 4872825 4872994 - 51 57 62 C T 4872873 434 122 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTAAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822871 4822872 4822872 downstr_intron 3 1.06 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTAAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant NA NA NA NA NA 251 312 0.944381831179413 0.926661197572494 0.935521514375953 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 NA NA 0.134134517227711 0.275550802378124 0.841394338562217 0.730678854573035 NA 0.204842659802918 NA FALSE NA 0.988 0.194 . splice_region_variant&intron_variant LOW GLYR1 HGNC 24434 ENST00000321919 7/15 1 NA TCA C,T 0.0001483 16:4822872 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 splice_region_variant 1.545828 0.96185 0.72298 0.295142 0.641696269169527 0.592621 0.999877719491225 TRUE 0.000166502 ENSE00000944209_009 ENSE00000944209 009 16 4872825 4872994 - 51 57 62 C T 4872879 435 116 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAAAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822877 4822878 4822878 exon -4 0.947368421052632 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAAAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 50 103 0.85 0.85 0.85 1055 107 0.897679834770446 0.839532543409996 0.868606189090221 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0131803440073007 0.0874325208187452 0.188422148215626 0.841394338562217 0.730678854573035 0.00860566143778302 0.137927334517186 0.129321673079403 FALSE FALSE 1 1.352 . synonymous_variant LOW GLYR1 HGNC 24434 ENST00000321919 7/16 1 NA TCT C,T 8.236e-06 16:4822878 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 synonymous_variant 1.365322 0.97381 0.95048 0.706548 0.500333830167411 0 0.999877719491225 TRUE 4.06095e-06 ENSE00000944209_010 ENSE00000944209 010 16 4872825 4872994 - 51 57 62 T C 4872885 436 110 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAGACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822883 4822884 4822884 exon -10 0.842105263157895 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAGACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 55 111 0.85 0.881864785714826 0.865932392857413 392 137 0.939199514382412 0.912810965049549 0.926005239715981 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0450451297221263 0.128952200430711 0.261700569855179 0.841394338562217 0.730678854573035 0.0245380542951958 0.195326385142945 0.170788330847749 FALSE FALSE 1 1.019 . synonymous_variant LOW GLYR1 HGNC 24434 ENST00000321919 7/16 1 NA TTT T,C 9.06e-05 16:4822884 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 synonymous_variant 0.090166 0.96535 0.64661 0.706548 0.555384463631545 0 0.999877719491225 TRUE 6.09132e-05 ENSE00000944209_011 ENSE00000944209 011 16 4872825 4872994 - 51 57 62 T A 4872890 437 105 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTATGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822888 4822889 4822889 exon -15 0.754385964912281 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTATGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 148 371 0.842557182576394 0.847007332885956 0.844782257731175 28 38 0.95 0.834501492959515 0.892250746479758 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.00341183855534022 0.0101876768932562 0.139752686048299 0.183391097765146 0.841394338562217 0.730678854573035 0.00338791916895798 0.161571891906722 0.158183972737764 FALSE FALSE 1 7.042 . missense_variant MODERATE GLYR1 HGNC 24434 ENST00000321919 7/16 1 benign(0.293) NA CTT T,A 8.236e-06 16:4822889 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 missense_variant 4.41782 0.99039 0.99612 0.706548 0.993089306180188 0 0.999877719491225 TRUE 4.06081e-06 ENSE00000944209_013 ENSE00000944209 013 16 4872825 4872994 - 51 57 62 G A 4872914 439 81 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATTCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822912 4822913 4822913 exon 19 0.333333333333333 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATTCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 18 15 0 0.0440366518337926 0.0220183259168963 42 168 0.233513892150854 0.0862345290103873 0.159874210580621 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.845969021131735 -0.792783004158907 -0.576733421800848 -0.564875866183982 0.841394338562217 0.730678854573035 -0.819376012645321 -0.570804643992415 0.248571368652906 TRUE TRUE 1 8.626 . missense_variant MODERATE GLYR1 HGNC 24434 ENST00000321919 7/16 1 benign(0.001) NA GGA G,A 8.236e-06 16:4822913 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 missense_variant 2.386761 0.99266 0.99459 0.706548 0.991393308853286 0 0.999877719491225 TRUE 4.06081e-06 ENSE00000944209_014 ENSE00000944209 014 16 4872825 4872994 - 51 57 62 G A 4872919 440 76 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGTAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822917 4822918 4822918 exon 14 0.245614035087719 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGTAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 601 103 0.0021912191731113 0 0.00109560958655565 32 434 0.0918005749111576 0.00424479150811741 0.0480226832096375 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.843777801958623 -0.836819655992699 -0.718446739040544 -0.646865603686252 0.841394338562217 0.730678854573035 -0.840298728975661 -0.682656171363398 0.157642557612264 TRUE TRUE 1 3.718 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4822918 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 missense_variant 3.237435 0.98084 0.96077 0.706548 0.996137797776147 0 0.999877719491225 TRUE 5.68514e-05 ENSE00000944209_015 ENSE00000944209 015 16 4872825 4872994 - 51 57 62 G C 4872919 441 76 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGGAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822917 4822918 4822918 exon 14 0.245614035087719 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGGAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 76 114 0.0172190302269727 0 0.00860951511348634 109 152 0 0.00211162092378687 0.00105581046189344 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.828749990904762 -0.836819655992699 -0.810247313951701 -0.648998774270583 0.841394338562217 0.730678854573035 -0.832784823448731 -0.729623044111142 0.103161779337589 TRUE TRUE 1 3.718 NA NA NA GLYR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLYR1 NA NA NA ENSG00000140632 ENSE00003507242 missense_variant 2.612536 0.98025 0.90071 0.706548 0.988777401862705 0 0.999877719491225 TRUE 4.06081e-05 ENSE00000944209_016 ENSE00000944209 016 16 4872825 4872994 - 51 57 62 A G 4872921 442 74 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGACGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822919 4822920 4822920 exon 12 0.210526315789474 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGACGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 67 159 0.85 0.85 0.85 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826542 0.0131803440073006 NA NA 0.841394338562217 0.730678854573035 0.00860566143778302 NA NA NA FALSE 1 1.72 . synonymous_variant LOW GLYR1 HGNC 24434 ENST00000321919 7/16 1 NA CAT A,G 8.236e-06 16:4822920 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 synonymous_variant 0.730641 0.96886 0.85894 0.706548 0.657439880671871 0 0.999877719491225 TRUE 4.06081e-06 ENSE00000944209_017 ENSE00000944209 017 16 4872825 4872994 - 51 57 62 C G 4872923 443 72 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAACATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822921 4822922 4822922 exon 10 0.175438596491228 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAACATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 411 305 0 0 0 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.845969021131735 -0.836819655992699 NA NA 0.841394338562217 0.730678854573035 -0.841394338562217 NA NA NA TRUE 1 5.147 . missense_variant MODERATE GLYR1 HGNC 24434 ENST00000321919 7/16 COSM3509896 1 benign(0.058) NA TCT C,G 3.295e-05 16:4822922 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 missense_variant 3.658864 0.99287 0.99086 0.706548 0.995236948673338 0 0.999877719491225 TRUE 3.24865e-05 ENSE00000944209_018 ENSE00000944209 018 16 4872825 4872994 - 51 57 62 G T 4872932 444 63 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGACTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822930 4822931 4822931 exon 1 0.0175438596491228 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGACTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 64 78 0.85 0.85 0.85 214 973 0.973668701236104 0.960971186322983 0.967319943779543 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.0040309788682652 0.0131803440073006 0.163421387284403 0.309860791128613 0.841394338562217 0.730678854573035 0.00860566143778291 0.236641089206508 0.228035427768725 FALSE FALSE 1 8.626 . missense_variant&splice_region_variant MODERATE GLYR1 HGNC 24434 ENST00000321919 7/16 1 benign(0.007) NA GGC G,T 2.471e-05 16:4822931 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 missense_variant 2.741468 0.99526 0.9968 0.706548 0.993132446074409 0 0.999877719491225 TRUE 2.43663e-05 ENSE00000944209_019 ENSE00000944209 019 16 4872825 4872994 - 51 57 62 G A 4872935 445 60 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTTAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822933 4822934 4822934 upstr_intron -3 -0.032258064516129 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTTAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 88 114 0.014885584325719 0 0.00744279216285948 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.831083436806016 -0.836819655992699 NA NA 0.841394338562217 0.730678854573035 -0.833951546399358 NA NA NA TRUE 1 3.523 . splice_region_variant&intron_variant LOW GLYR1 HGNC 24434 ENST00000321919 6/15 1 NA TGA G,A 8.236e-06 16:4822934 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 splice_region_variant 2.039047 0.9843 0.95192 0.156188 0.918579443187061 0.851727 0.999877719491225 TRUE 8.12196e-06 ENSE00000944209_020 ENSE00000944209 020 16 4872825 4872994 - 51 57 62 G C 4872942 446 53 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTGTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822940 4822941 4822941 upstr_intron -10 -0.145161290322581 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTGTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 1232 432 0 0 0 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.845969021131735 -0.836819655992699 NA NA 0.841394338562217 0.730678854573035 -0.841394338562217 NA NA NA TRUE 0.95 0.508 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 1 NA AGA G,C 2.471e-05 16:4822941 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 1.41174 0.25661 0.54613 0.156188 0.791061217993143 0.350113 0.999877719491225 TRUE NA ENSE00000944209_021 ENSE00000944209 021 16 4872825 4872994 - 51 57 62 G A 4872951 447 44 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTTACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822949 4822950 4822950 upstr_intron -19 -0.290322580645161 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTTACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant NA NA NA NA NA 410 449 0.971180334756614 0.998804474185239 0.984992404470926 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 NA NA 0.160933020804912 0.347694078990869 0.841394338562217 0.730678854573035 NA 0.254313549897891 NA FALSE NA 0 -1.001 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 1 NA TGA G,A 1.647e-05 16:4822950 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant -0.193471 0.14879 0.05997 0.156188 0.315413770955771 0.152862 0.999877719491225 TRUE 4.06187e-06 ENSE00000944209_022 ENSE00000944209 022 16 4872825 4872994 - 51 57 62 A G 4872956 448 39 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTCATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822954 4822955 4822955 upstr_intron -24 -0.370967741935484 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTCATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 104 97 0.935773810229273 0.885414601571601 0.910594205900437 885 1740 0.994380324361181 0.989563089192238 0.99197170677671 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.0898047890975382 0.0485949455789015 0.18413301040948 0.338452693997869 0.841394338562217 0.730678854573035 0.0691998673382199 0.261292852203674 0.192092984865454 FALSE FALSE 0.002 -0.388 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 1 NA TAA A,G 2.471e-05 16:4822955 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant -0.057628 0.14155 0.05465 0.099367 0.474602804055143 0.152862 0.999877719491225 TRUE 1.62487e-05 ENSE00000944209_023 ENSE00000944209 023 16 4872825 4872994 - 51 57 62 C T 4872961 449 34 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTAGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822959 4822960 4822960 upstr_intron -29 -0.451612903225806 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTAGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 64 136 0.85 0.85 0.85 342 2123 0.934938447902283 0.942792645189755 0.938865546546019 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.0040309788682652 0.0131803440073006 0.124691133950582 0.291682249995385 0.841394338562217 0.730678854573035 0.00860566143778291 0.208186691972984 0.199581030535201 FALSE FALSE 0 0.066 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4822960 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.196477 0.22958 0.14099 0.099367 0.257962193817419 0.152862 0.999877719491225 TRUE 4.06309e-06 ENSE00000944209_024 ENSE00000944209 024 16 4872825 4872994 - 51 57 62 C G 4872961 450 34 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTCGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822959 4822960 4822960 upstr_intron -29 -0.451612903225806 GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTCGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant NA NA NA NA NA 453 810 0.910555976434415 0.923034823515727 0.916795399975071 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 NA NA 0.100308662482714 0.271924428321358 0.841394338562217 0.730678854573035 NA 0.186116545402036 NA FALSE NA 0 0.066 NA NA NA GLYR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLYR1 NA NA NA ENSG00000140632 ENSE00003507242 intron_variant 0.122269 0.21646 0.03219 0.099367 0.459590419968289 0.152862 0.999877719491225 TRUE 8.12618e-06 ENSE00000944209_025 ENSE00000944209 025 16 4872825 4872994 - 51 57 62 T G 4872965 451 30 GGAGAAGGAAGTGACCTTTGGTGGCAGATCACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822963 4822964 4822964 upstr_intron -33 -0.516129032258065 GGAGAAGGAAGTGACCTTTGGTGGCAGATCACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 129 139 0.85 0.85 0.85 17 2202 0.8 0.752096887086269 0.776048443543134 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0131803440073006 -0.0102473139517012 0.100986491891899 0.841394338562217 0.730678854573035 0.00860566143778296 0.045369588970099 0.036763927532316 FALSE FALSE 0 -0.981 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 1 NA TTA T,G 1.647e-05 16:4822964 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.431461 0.21609 0.06161 0.099367 0.604304697289371 0.152862 0.999877719491225 TRUE 1.21894e-05 ENSE00000944209_026 ENSE00000944209 026 16 4872825 4872994 - 51 57 62 T C 4872967 452 28 GGAGAAGGAAGTGACCTTTGGTGGCAGGTAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822965 4822966 4822966 upstr_intron -35 -0.548387096774194 GGAGAAGGAAGTGACCTTTGGTGGCAGGTAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 116 83 0 0 0 445 278 0 0 0 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.845969021131735 -0.836819655992699 -0.810247313951701 -0.651110395194369 0.841394338562217 0.730678854573035 -0.841394338562217 -0.730678854573035 0.110715483989182 TRUE TRUE 0 -1.518 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 1 NA ATC T,C 8.236e-06 16:4822966 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant -0.130395 0.15084 0.02066 0.099367 0.548323120327246 0.152862 0.999877719491225 TRUE 4.06395e-06 ENSE00000944209_027 ENSE00000944209 027 16 4872825 4872994 - 51 57 62 G C 4872970 453 25 GGAGAAGGAAGTGACCTTTGGTGGGAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822968 4822969 4822969 upstr_intron -38 -0.596774193548387 GGAGAAGGAAGTGACCTTTGGTGGGAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 279 257 0.85 0.85 0.85 47 308 0.95 0.876003970365381 0.91300198518269 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0131803440073006 0.139752686048299 0.224893575171011 0.841394338562217 0.730678854573035 0.00860566143778296 0.182323130609655 0.173717469171872 FALSE FALSE 0 -0.03 rs2075466 intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 rs2075466 1 C:0.3423 C:0.3101 C:0.3617 NA C:0.2827 C:0.2972 C:0.4796 C:0.2765 C:0.2709 TGC G,C 0.303 16:4822969 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant -0.20727 0.15447 0.04076 0.156188 0.568213765901827 0.127161 0.999877719491225 TRUE 0.302927 ENSE00000944209_028 ENSE00000944209 028 16 4872825 4872994 - 51 57 62 C T 4872971 454 24 GGAGAAGGAAGTGACCTTTGGTGACAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822969 4822970 4822970 upstr_intron -39 -0.612903225806452 GGAGAAGGAAGTGACCTTTGGTGACAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 35 164 0.902868533787195 0.85 0.876434266893598 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.0568995126554607 0.0131803440073006 NA NA 0.841394338562217 0.730678854573035 0.0350399283313806 NA NA NA FALSE 0 0.297 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 1 NA GCC C,T 8.236e-06 16:4822970 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.560869 0.30593 0.04511 0.156188 0.521388814952667 0.127161 0.999877719491225 TRUE 4.06616e-06 ENSE00000944209_029 ENSE00000944209 029 16 4872825 4872994 - 51 57 62 A T 4872973 455 22 GGAGAAGGAAGTGACCTTTGGAGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822971 4822972 4822972 upstr_intron -41 -0.645161290322581 GGAGAAGGAAGTGACCTTTGGAGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 57 240 0.85 0.85 0.85 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0131803440073006 NA NA 0.841394338562217 0.730678854573035 0.00860566143778296 NA NA NA FALSE 0.004 1.895 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 rs536596030 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CAC A,T 1.647e-05 16:4822972 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.687807 0.28883 0.21504 0.156188 0.766776755694455 0.152862 0.999877719491225 TRUE 8.13451e-06 ENSE00000944209_030 ENSE00000944209 030 16 4872825 4872994 - 51 57 62 C T 4872974 456 21 GGAGAAGGAAGTGACCTTTGATGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822972 4822973 4822973 upstr_intron -42 -0.661290322580645 GGAGAAGGAAGTGACCTTTGATGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 155 215 0.846455587204454 0.85 0.848227793602227 1970 234 0.977124282893254 0.946196265125781 0.961660274009518 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.000486566072719685 0.0131803440073006 0.166876968941553 0.295085869931412 0.841394338562217 0.730678854573035 0.00683345504001015 0.230981419436482 0.224147964396472 FALSE FALSE 0 -1.438 . intron_variant MODIFIER GLYR1 HGNC 24434 ENST00000321919 6/15 rs368044903 1 NA T:0 T:0.0001 ACC C,T 1.647e-05 16:4822973 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 1.192465 0.13684 0.04019 0.156188 0.612518760900354 0.152862 0.999877719491225 TRUE 1.22031e-05 ENSE00000944209_031 ENSE00000944209 031 16 4872825 4872994 - 51 57 62 G T 4872980 457 15 GGAGAAGGAAGTGAACTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822978 4822979 4822979 upstr_intron -48 -0.758064516129032 GGAGAAGGAAGTGAACTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 86 137 0.85 0.85 0.85 289 743 0.928743164007177 0.933030123140969 0.930886643574073 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 0.00403097886826531 0.0131803440073006 0.118495850055476 0.2819197279466 0.841394338562217 0.730678854573035 0.00860566143778296 0.200207789001038 0.191602127563255 FALSE FALSE 0 0.117 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4822979 GLYR1 HGNC Symbol protein_coding 44139 ENSG00000140632 ENSE00003507242 intron_variant 0.994287 0.27 0.18548 0.156188 0.763780752810222 0.148655 0.999877719491225 TRUE NA ENSE00000944209_032 ENSE00000944209 032 16 4872825 4872994 - 51 57 62 G C 4872980 458 15 GGAGAAGGAAGTGAGCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 4822978 4822979 4822979 upstr_intron -48 -0.758064516129032 GGAGAAGGAAGTGAGCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT mutant 110 138 0.819154144240415 0.786710111312191 0.802932127776303 1467 3122 0.822463491091321 0.803794967424208 0.813129229257764 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.0268148768913198 -0.0501095446805085 0.0122161771396196 0.152684572229839 0.841394338562217 0.730678854573035 -0.0384622107859142 0.0824503746847291 0.120912585470643 FALSE FALSE 0 0.117 NA NA NA GLYR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLYR1 NA NA NA ENSG00000140632 ENSE00003507242 intron_variant 0.87109 0.24962 0.06342 0.156188 0.769700716642593 0.148655 0.999877719491225 TRUE 1.62805e-05 ENSE00000944209_BRK ENSE00000944209 BRK 16 4872825 4872994 - 51 57 62 A,G; T,T NA NA NA GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCTTCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGCCGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT 4822823 4822993 NA NA NA NA NA NA GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCTTCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGCCGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT GGAGAAGGAAGTGACCTTTGGTGGCAGATAACTGGTTTTATTTCACTGTTTTCTGGTTTCAGCCTGTTAAAGATGCAGATCCTCATTTCCATCATTTCCTGCTAAGCCAAACAGAGAAGGTGAGTTGCCTTTGAGGCTCTTGGCCCTTGGTCAGGGGCTGGCCAAGGAGT control 305 121 0 0 0 NA NA NA NA NA 0.845969021131735 0.836819655992699 0.810247313951701 0.651110395194369 -0.845969021131735 -0.836819655992699 NA NA 0.841394338562217 0.730678854573035 -0.841394338562217 NA NA NA TRUE NA NA NA NA NA GLYR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLYR1 NA NA NA ENSG00000140632 ENSE00003507242 NA NA NA NA NA NA NA 0.999877719491225 TRUE NA ENSE00000944495_000 ENSE00000944495 000 16 14687117 14687286 - 41 78 51 NA NA NA NA NA CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 NA NA NA NA NA NA CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC natural 288 320 0.954124873469677 0.952826537970188 0.953475705719932 12884 7981 0.944071700431089 0.841526252480842 0.892798976455966 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 0 0 0 0 0.953475705719932 0.892798976455966 0 0 0 FALSE FALSE NA NA NA NA NA PARN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARN NA NA NA ENSG00000140694 ENSE00003743453 NA NA NA NA NA NA NA 0.387183623172132 FALSE NA ENSE00000944495_001 ENSE00000944495 001 16 14687117 14687286 - 41 78 51 C T 14687136 931 151 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTATTTAATATTAGCAGGATTC 14593259 14593429 14593278 14593279 14593279 downstr_intron 22 1.55 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTATTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 1314 1332 0.999466354338069 0.992142854638765 0.995804604488417 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0553946539069805 0.150616602157922 0.953475705719932 0.892798976455966 NA 0.103005628032451 NA FALSE NA 0 -0.62 . intron_variant MODIFIER PARN HGNC 8609 ENST00000539279 6/16 1 NA ACA C,T 8.276e-06 16:14593279 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 intron_variant 0.233853 0.22286 0.02722 0.359288 0.548403510810622 0.0584631 0.387183623172132 FALSE 4.14917e-06 ENSE00000944495_002 ENSE00000944495 002 16 14687117 14687286 - 41 78 51 C T 14687138 932 149 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTATGTTTAATATTAGCAGGATTC 14593259 14593429 14593280 14593281 14593281 downstr_intron 20 1.5 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTATGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 2652 923 0.997188447772635 0.993874267505545 0.99553135763909 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.053116747341546 0.152348015024703 0.953475705719932 0.892798976455966 NA 0.102732381183124 NA FALSE NA 0 -0.567 . intron_variant MODIFIER PARN HGNC 8609 ENST00000539279 6/16 rs540580233 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACA C,T 4.138e-05 16:14593281 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 intron_variant 0.178152 0.23176 0.05939 0.359288 0.604393041135357 0.0584631 0.387183623172132 FALSE 4.552e-05 ENSE00000944495_003 ENSE00000944495 003 16 14687117 14687286 - 41 78 51 G A 14687140 933 147 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTTTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593282 14593283 14593283 downstr_intron 18 1.45 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTTTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 894 695 1 0.972183361706231 0.986091680853115 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0559282995689112 0.130657109225388 0.953475705719932 0.892798976455966 NA 0.0932927043971497 NA FALSE NA 0.03 1.943 . intron_variant MODIFIER PARN HGNC 8609 ENST00000539279 6/16 1 NA AGA G,A 8.276e-06 16:14593283 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 intron_variant 0.121162 0.30166 0.12149 0.359288 0.661754292914166 0.0584631 0.387183623172132 FALSE 1.64026e-05 ENSE00000944495_004 ENSE00000944495 004 16 14687117 14687286 - 41 78 51 A G 14687144 934 143 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTCGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593286 14593287 14593287 downstr_intron 14 1.35 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTCGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 7435 220 0.833985962343901 0.994204940037829 0.914095451190865 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA -0.110085738087188 0.152678687556987 0.953475705719932 0.892798976455966 NA 0.0212964747348995 NA FALSE NA 0 0.176 rs75783314 intron_variant MODIFIER PARN HGNC 8609 ENST00000539279 6/16 rs75783314 1 G:0.0298 G:0.0484 G:0.0159 NA G:0.006 G:0.0408 G:0.0276 G:0.0575 G:0.0417 CAA G,G 0.038 16:14593287 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 intron_variant -0.045067 0.21119 0.00704 0.359288 0.374717193893182 0.0584631 0.387183623172132 FALSE 0.0354856 ENSE00000944495_005 ENSE00000944495 005 16 14687117 14687286 - 41 78 51 C A 14687146 935 141 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTTTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593288 14593289 14593289 downstr_intron 12 1.3 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTTTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 1937 1068 0.99921123698437 1 0.999605618492185 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0551395365532811 0.158473747519158 0.953475705719932 0.892798976455966 NA 0.106806642036219 NA FALSE NA 0 -0.521 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:14593289 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 intron_variant 0.61363 0.28101 0.06981 0.359288 0.647057384622769 0.0584631 0.387183623172132 FALSE 0 ENSE00000944495_006 ENSE00000944495 006 16 14687117 14687286 - 41 78 51 C T 14687146 936 141 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTATTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593288 14593289 14593289 downstr_intron 12 1.3 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTATTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 814 372 0.992656753301543 0.99957462208234 0.996115687691942 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0485850528704547 0.158048369601498 0.953475705719932 0.892798976455966 NA 0.103316711235976 NA FALSE NA 0 -0.521 NA NA NA PARN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARN NA NA NA ENSG00000140694 ENSE00003743453 intron_variant 0.453455 0.27127 0.04346 0.359288 0.682634683858313 0.0584631 0.387183623172132 FALSE 4.09853e-06 ENSE00000944495_007 ENSE00000944495 007 16 14687117 14687286 - 41 78 51 C A 14687157 937 130 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGTTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593299 14593300 14593300 downstr_intron 1 1.025 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGTTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant 87 159 0 0.00409535315822735 0.00204767657911367 377 1595 0.0116447984092199 0.000634082815062335 0.00613944061214114 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 -0.954124873469677 -0.948731184811961 -0.932426902021869 -0.84089216966578 0.953475705719932 0.892798976455966 -0.951428029140819 -0.886659535843825 0.0647684932969943 TRUE TRUE 1 6.414 . splice_donor_variant HIGH PARN HGNC 8609 ENST00000539279 6/16 1 NA HC ACC C,A 1.655e-05 16:14593300 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 splice_donor_variant 5.592617 0.96737 0.91318 0.359288 0.995163828355273 0.986209 0.387183623172132 FALSE 8.15268e-06 ENSE00000944495_008 ENSE00000944495 008 16 14687117 14687286 - 41 78 51 G A 14687159 938 128 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGTGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593301 14593302 14593302 exon -2 0.987179487179487 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGTGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 128 129 1 1 1 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0559282995689112 0.158473747519158 0.953475705719932 0.892798976455966 NA 0.107201023544034 NA FALSE NA 1 1.738 . missense_variant&splice_region_variant MODERATE PARN HGNC 8609 ENST00000539279 6/17 rs201362263&COSM1375998&COSM1375997 1 tolerated(0.23) benign(0.002) NA A:0.0003 A:0 CGC G,A 9.102e-05 16:14593302 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 missense_variant 2.796444 0.92429 0.62964 0.719381 0.975555614048312 0 0.387183623172132 FALSE 9.37895e-05 ENSE00000944495_009 ENSE00000944495 009 16 14687117 14687286 - 41 78 51 G A 14687176 939 111 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTTTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593318 14593319 14593319 exon -19 0.769230769230769 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTTTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 779 828 0.852540905036015 0.99980894739777 0.926174926216893 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA -0.0915307953950737 0.158282694916928 0.953475705719932 0.892798976455966 NA 0.033375949760927 NA FALSE NA 1 3.485 . synonymous_variant LOW PARN HGNC 8609 ENST00000539279 6/17 1 NA AGA G,A 8.274e-06 16:14593319 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 synonymous_variant 1.225883 0.93376 0.76768 0.719381 0.805963648589307 0 0.387183623172132 FALSE 4.06643e-06 ENSE00000944495_010 ENSE00000944495 010 16 14687117 14687286 - 41 78 51 C T 14687199 940 88 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACATCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593341 14593342 14593342 exon 37 0.474358974358974 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACATCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 99 242 0.99182427666427 0.987548865067418 0.989686570865844 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0477525762331814 0.146022612586576 0.953475705719932 0.892798976455966 NA 0.0968875944098786 NA FALSE NA 1 3.739 . missense_variant MODERATE PARN HGNC 8609 ENST00000539279 6/17 1 tolerated(0.12) benign(0.26) NA ACG C,T 0.000273 16:14593342 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 missense_variant 3.995305 0.95146 0.80745 0.719381 0.990547902558284 0 0.387183623172132 FALSE 0.000300808 ENSE00000944495_011 ENSE00000944495 011 16 14687117 14687286 - 41 78 51 G A 14687200 941 87 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGATGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593342 14593343 14593343 exon 36 0.461538461538462 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGATGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 2329 602 0.996733482660393 0.976710761756978 0.986722122208685 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0526617822293044 0.135184509276135 0.953475705719932 0.892798976455966 NA 0.0939231457527198 NA FALSE NA 0.996 0.46 . synonymous_variant LOW PARN HGNC 8609 ENST00000539279 6/17 1 NA CGT G,A 1.655e-05 16:14593343 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 synonymous_variant 1.518384 0.89958 0.23582 0.706548 0.854103831185119 0 0.387183623172132 FALSE 1.62648e-05 ENSE00000944495_012 ENSE00000944495 012 16 14687117 14687286 - 41 78 51 G C 14687208 942 79 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGGTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593350 14593351 14593351 exon 28 0.358974358974359 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGGTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 2806 547 0.998954019687821 0.959970064257405 0.979462041972613 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0548823192567325 0.118443811776563 0.953475705719932 0.892798976455966 NA 0.0866630655166475 NA FALSE NA 1 6.294 . missense_variant MODERATE PARN HGNC 8609 ENST00000539279 6/17 1 deleterious(0.01) probably_damaging(0.995) NA AGC G,C 8.275e-06 16:14593351 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 missense_variant 5.663369 0.9528 0.90878 0.706548 0.998839358539291 0 0.387183623172132 FALSE 4.06812e-06 ENSE00000944495_015 ENSE00000944495 015 16 14687117 14687286 - 41 78 51 T C 14687223 945 64 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTGTTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593365 14593366 14593366 exon 13 0.166666666666667 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTGTTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 2984 668 0.997147789440723 0.999485605255643 0.998316697348183 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0530760890096342 0.157959352774801 0.953475705719932 0.892798976455966 NA 0.105517720892218 NA FALSE NA 0.985 1.84 . missense_variant MODERATE PARN HGNC 8609 ENST00000539279 6/17 rs376031010 1 tolerated(1) benign(0.002) C:0.0014 C:0 C:0 NA C:0.0069 C:0 C:0 ATA T,C 4.966e-05 16:14593366 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 missense_variant 0.553621 0.92885 0.5366 0.706548 0.809135827601367 0 0.387183623172132 FALSE 8.56751e-05 ENSE00000944495_016 ENSE00000944495 016 16 14687117 14687286 - 41 78 51 C T 14687226 946 61 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTATTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593368 14593369 14593369 exon 10 0.128205128205128 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTATTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 2573 3064 0.973332873176491 0.999364021956085 0.986348447566288 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.0292611727454025 0.157837769475242 0.953475705719932 0.892798976455966 NA 0.0935494711103224 NA FALSE NA 1 2.96 . missense_variant MODERATE PARN HGNC 8609 ENST00000539279 6/17 1 tolerated(0.37) benign(0.028) NA ACA C,T 8.277e-06 16:14593369 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 missense_variant 2.762178 0.95269 0.79129 0.706548 0.955906128257302 0 0.387183623172132 FALSE 4.08327e-06 ENSE00000944495_017 ENSE00000944495 017 16 14687117 14687286 - 41 78 51 A C 14687242 947 45 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTGCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593384 14593385 14593385 upstr_intron -7 -0.117647058823529 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTGCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant 179 143 0.85 0.85 0.85 294 505 0.8 0.8 0.8 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 -0.104124873469677 -0.102826537970188 -0.144071700431089 -0.0415262524808424 0.953475705719932 0.892798976455966 -0.103475705719933 -0.0927989764559655 0.010676729263967 FALSE FALSE 0.981 3.557 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:14593385 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 splice_region_variant 0.819081 0.87888 0.88779 0.099367 0.842528257691923 0.501682 0.387183623172132 FALSE 8.17461e-06 ENSE00000944495_018 ENSE00000944495 018 16 14687117 14687286 - 41 78 51 A T 14687242 948 45 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTACTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593384 14593385 14593385 upstr_intron -7 -0.117647058823529 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTACTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant 28 33 0.85 0.922166952922825 0.886083476461413 1118 1903 0.839667676171198 0.720842357328083 0.78025501674964 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 -0.104124873469677 -0.0306595850473629 -0.104404024259891 -0.12068389515276 0.953475705719932 0.892798976455966 -0.06739222925852 -0.112543959706325 0.0451517304478055 FALSE FALSE 0.981 3.557 NA NA NA PARN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARN NA NA NA ENSG00000140694 ENSE00003743453 splice_region_variant 0.829926 0.8768 0.8828 0.099367 0.828861972106524 0.501682 0.387183623172132 FALSE 4.0873e-06 ENSE00000944495_019 ENSE00000944495 019 16 14687117 14687286 - 41 78 51 A C 14687243 949 44 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTGTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593385 14593386 14593386 upstr_intron -8 -0.137254901960784 CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTGTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant 11 20 0.947379788586911 0.916942101674099 0.932160945130505 927 1280 0.828817434459681 0.99975280734139 0.914285120900535 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 -0.00674508488276571 -0.0358844362960888 -0.115254265971408 0.158226554860548 0.953475705719932 0.892798976455966 -0.0213147605894273 0.0214861444445699 0.0428009050339971 FALSE FALSE 0.39 0.12 . splice_region_variant&intron_variant LOW PARN HGNC 8609 ENST00000539279 5/16 1 NA AAA A,C 8.278e-06 16:14593386 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 splice_region_variant 0.873968 0.79978 0.51586 0.099367 0.77491118102729 0.433946 0.387183623172132 FALSE 4.08794e-06 ENSE00000944495_020 ENSE00000944495 020 16 14687117 14687286 - 41 78 51 A C 14687259 950 28 CAGTATAATTTCGAATGTAGAAGTCTTGTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593401 14593402 14593402 upstr_intron -24 -0.450980392156863 CAGTATAATTTCGAATGTAGAAGTCTTGTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant 14 31 0.982148091024687 0.988582664464216 0.985365377744452 619 1140 1 0.988593328878108 0.994296664439054 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 0.0280232175550097 0.0357561264940284 0.0559282995689112 0.147067076397266 0.953475705719932 0.892798976455966 0.031889672024519 0.101497687983088 0.0696080159585694 FALSE FALSE 0 2.25 . intron_variant MODIFIER PARN HGNC 8609 ENST00000539279 5/16 1 NA AAA A,C 8.278e-06 16:14593402 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 intron_variant 0.37232 0.31208 0.23429 0.099367 0.729236542922714 0.0904101 0.387183623172132 FALSE 4.1216e-06 ENSE00000944495_021 ENSE00000944495 021 16 14687117 14687286 - 41 78 51 C T 14687274 951 13 CAGTATAATTTCAAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593416 14593417 14593417 upstr_intron -39 -0.745098039215686 CAGTATAATTTCAAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant 12 13 1 1 1 4172 1139 0.996421358739509 0.998677430891039 0.997549394815274 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 0.045875126530323 0.0471734620298121 0.0523496583084198 0.157151178410197 0.953475705719932 0.892798976455966 0.0465242942800675 0.104750418359308 0.0582261240792408 FALSE FALSE 0 0.072 . intron_variant MODIFIER PARN HGNC 8609 ENST00000539279 5/16 1 NA TCG C,T 8.28e-06 16:14593417 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 intron_variant 1.045282 0.26818 0.08531 0.099367 0.751310265287537 0.112043 0.387183623172132 FALSE 8.49098e-06 ENSE00000944495_022 ENSE00000944495 022 16 14687117 14687286 - 41 78 51 G A 14687275 952 12 CAGTATAATTTTGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 14593417 14593418 14593418 upstr_intron -40 -0.764705882352941 CAGTATAATTTTGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC mutant NA NA NA NA NA 3484 3594 0.960112051301332 0.99226204451299 0.976187047907161 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 NA NA 0.016040350870243 0.150735792032147 0.953475705719932 0.892798976455966 NA 0.0833880714511952 NA FALSE NA 0 0.204 . intron_variant MODIFIER PARN HGNC 8609 ENST00000539279 5/16 1 NA CGA G,A 8.28e-06 16:14593418 PARN HGNC Symbol protein_coding 197027 ENSG00000140694 ENSE00003743453 intron_variant 0.777948 0.18793 0.00697 0.099367 0.777398752520729 0.112043 0.387183623172132 FALSE 2.5466e-05 ENSE00000944495_BRK ENSE00000944495 BRK 16 14687117 14687286 - 41 78 51 A,G; T,T NA NA NA CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTTTGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGCCAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC 14593259 14593429 NA NA NA NA NA NA CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTTTGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGCCAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC CAGTATAATTTCGAATGTAGAAGTCTTTTTTCTAACCTTGACTTTCTTTAGGGAAAACTTGTTATTGGACACAATATGCTCTTGGACGTCATGCACACAGTTCATCAGTTCTACTGCCCTCTGCCTGCGGTAAGTGACCTGTTGGTCTGTGTTTAATATTAGCAGGATTC control 325 79 0.0813677102297555 0 0.0406838551148778 1241 2496 0.0237364796590908 0.0218957180757045 0.0228160988673977 0.954124873469677 0.952826537970188 0.944071700431089 0.841526252480842 -0.872757163239921 -0.952826537970188 -0.920335220771998 -0.819630534405138 0.953475705719932 0.892798976455966 -0.912791850605055 -0.869982877588568 0.0428089730164868 TRUE TRUE NA NA NA NA NA PARN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARN NA NA NA ENSG00000140694 ENSE00003743453 NA NA NA NA NA NA NA 0.387183623172132 FALSE NA ENSE00000944772_000 ENSE00000944772 000 16 21985167 21985336 + 50 81 39 NA NA NA NA NA CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT 21973845 21974015 NA NA NA NA NA NA CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT natural 19 90 0.820601796040596 0.887503598328459 0.854052697184527 2422 2973 0.794899245273647 0.860373382028874 0.827636313651261 0.820601796040596 0.887503598328459 0.794899245273647 0.860373382028874 0 0 0 0 0.854052697184527 0.827636313651261 0 0 0 FALSE FALSE NA NA NA NA NA UQCRC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UQCRC2 NA NA NA ENSG00000140740 ENSE00003603905 NA NA NA NA NA NA NA 0.00723554333965841 FALSE NA ENSE00000944772_002 ENSE00000944772 002 16 21985167 21985336 + 50 81 39 A G 21985190 1318 24 CCTGTTTTACTTGGTAGAATATCGTACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT 21973845 21974015 21973868 21973869 21973869 upstr_intron -27 -0.52 CCTGTTTTACTTGGTAGAATATCGTACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT mutant NA NA NA NA NA 60 172 0.927612386025179 0.9885606856295 0.95808653582734 0.820601796040596 0.887503598328459 0.794899245273647 0.860373382028874 NA NA 0.132713140751533 0.128187303600626 0.854052697184527 0.827636313651261 NA 0.130450222176079 NA FALSE NA 0 -0.313 . intron_variant&non_coding_transcript_variant MODIFIER UQCRC2 HGNC 12586 ENST00000567810 3/3 1 NA CAT A,G 8.237e-06 16:21973869 UQCRC2 HGNC Symbol protein_coding 31000 ENSG00000140740 ENSE00003603905 intron_variant 0.34884 0.18361 0.12554 0.295142 0.395481635936501 0.0968874 0.00723554333965841 FALSE 4.12035e-06 ENSE00000944772_005 ENSE00000944772 005 16 21985167 21985336 + 50 81 39 A G 21985208 1321 42 CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTGTCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT 21973845 21974015 21973886 21973887 21973887 upstr_intron -9 -0.16 CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTGTCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT mutant NA NA NA NA NA 144 293 0.989235534843358 0.997760902990713 0.993498218917036 0.820601796040596 0.887503598328459 0.794899245273647 0.860373382028874 NA NA 0.194336289569711 0.137387520961839 0.854052697184527 0.827636313651261 NA 0.165861905265775 NA FALSE NA 0.077 -0.958 . intron_variant&non_coding_transcript_variant MODIFIER UQCRC2 HGNC 12586 ENST00000567810 3/3 rs368116933 1 NA G:0 G:0.0001 TAT A,G 0.0002389 16:21973887 UQCRC2 HGNC Symbol protein_coding 31000 ENSG00000140740 ENSE00003603905 intron_variant -0.12678 0.13614 0.06663 0.295142 0.46928855101314 0.169835 0.00723554333965841 FALSE 0.000187866 ENSE00000944772_009 ENSE00000944772 009 16 21985167 21985336 + 50 81 39 A G 21985243 1325 77 CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCGGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT 21973845 21974015 21973921 21973922 21973922 exon 27 0.333333333333333 CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCGGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT mutant NA NA NA NA NA 143 30 1 1 1 0.820601796040596 0.887503598328459 0.794899245273647 0.860373382028874 NA NA 0.205100754726353 0.139626617971126 0.854052697184527 0.827636313651261 NA 0.172363686348739 NA FALSE NA 0 -2.265 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UQCRC2 HGNC 12586 ENST00000567810 4/4 1 NA CAG A,G 8.236e-06 16:21973922 UQCRC2 HGNC Symbol protein_coding 31000 ENSG00000140740 ENSE00003603905 synonymous_variant 0.964618 0.33018 0.05569 0.706548 0.598620613849615 0 0.00723554333965841 FALSE 4.09078e-06 ENSE00000944772_010 ENSE00000944772 010 16 21985167 21985336 + 50 81 39 A G 21985278 1326 112 CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCGGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT 21973845 21974015 21973956 21973957 21973957 exon -20 0.765432098765432 CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCGGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT mutant NA NA NA NA NA 344 28 0.998918308863335 0.99862913919573 0.998773724029533 0.820601796040596 0.887503598328459 0.794899245273647 0.860373382028874 NA NA 0.204019063589688 0.138255757166856 0.854052697184527 0.827636313651261 NA 0.171137410378272 NA FALSE NA 1 8.665 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UQCRC2 HGNC 12586 ENST00000567810 4/4 1 NA CAG A,G 0.0001235 16:21973957 UQCRC2 HGNC Symbol protein_coding 31000 ENSG00000140740 ENSE00003603905 missense_variant 2.969304 0.96582 0.97396 0.706548 0.997202431077733 0 0.00723554333965841 FALSE 0.000120437 ENSE00000944772_012 ENSE00000944772 012 16 21985167 21985336 + 50 81 39 T C 21985311 1328 145 CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACCCACCAAACTTCTTTCATGAACAAGT 21973845 21974015 21973989 21973990 21973990 downstr_intron 14 1.36842105263158 CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACCCACCAAACTTCTTTCATGAACAAGT CCTGTTTTACTTGGTAGAATATCATACAGTAAAGTCTCATTATCTTTCAGGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAGCTGCTGGAGATGTAAGTTGCAAACTCACCAAACTTCTTTCATGAACAAGT mutant NA NA NA NA NA 387 362 0.951250228030473 0.956598705709245 0.953924466869859 0.820601796040596 0.887503598328459 0.794899245273647 0.860373382028874 NA NA 0.156350982756826 0.0962253236803708 0.854052697184527 0.827636313651261 NA 0.126288153218598 NA FALSE NA 0.001 0.734 . downstream_gene_variant MODIFIER UQCRC2 HGNC 12586 ENST00000567810 1 NA CTC T,C 8.237e-05 16:21973990 UQCRC2 HGNC Symbol protein_coding 31000 ENSG00000140740 ENSE00003603905 intron_variant 0.999709 0.23408 0.09627 0.099367 0.738897535883354 0.0550819 0.00723554333965841 FALSE 4.89751e-05 ENSE00000945091_000 ENSE00000945091 000 16 48158080 48158249 - 44 72 54 NA NA NA NA NA ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA 48124168 48124338 NA NA NA NA NA NA ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA natural 131 227 0.845804463910826 0.837092525865911 0.841448494888368 2318 1909 0.892930410067606 0.974481266588613 0.933705838328109 0.845804463910826 0.837092525865911 0.892930410067606 0.974481266588613 0 0 0 0 0.841448494888368 0.933705838328109 0 0 0 FALSE FALSE NA NA NA NA NA ABCC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC12 NA NA NA ENSG00000140798 ENSE00003645277 NA NA NA NA NA NA NA 2.20535216082614e-26 FALSE NA ENSE00000945091_001 ENSE00000945091 001 16 48158080 48158249 - 44 72 54 C T 48158094 1595 156 TCATGTTAATGTTCTATCTTCACAGCACTCATCACACAGCTTACCTGTCCTAGGAGAGCTGCAAGGAGGGAGCTCTTTCCACTTCCCACATTCCCACATATTCCCAAGATCTTCCCCTGCCAGAGAAACAGAGATGGGACACAGTCACTCTCTCCCACTTCTTAGAGGGT 48124168 48124338 48124182 48124183 48124183 downstr_intron 30 1.69767441860465 ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATAGAACATTAACATGA ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA mutant 45 17 0.85 0.85 0.85 195 87 0.984721086620417 0.961075984070412 0.972898535345414 0.845804463910826 0.837092525865911 0.892930410067606 0.974481266588613 0.00419553608917422 0.012907474134089 0.0917906765528107 -0.0134052825182011 0.841448494888368 0.933705838328109 0.00855150511163161 0.0391926970173048 0.0306411919056732 FALSE FALSE 0 -1.386 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 10/27 1 NA CCA C,T 8.236e-06 16:48124183 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003645277 intron_variant 0.376234 0.14626 0.00531 0.053691 0.716298427351062 0.0788646 2.20535216082614e-26 FALSE 4.06534e-06 ENSE00000945091_002 ENSE00000945091 002 16 48158080 48158249 - 44 72 54 C T 48158097 1596 153 TCATGTTAATGTTCCATTTTCACAGCACTCATCACACAGCTTACCTGTCCTAGGAGAGCTGCAAGGAGGGAGCTCTTTCCACTTCCCACATTCCCACATATTCCCAAGATCTTCCCCTGCCAGAGAAACAGAGATGGGACACAGTCACTCTCTCCCACTTCTTAGAGGGT 48124168 48124338 48124185 48124186 48124186 downstr_intron 27 1.62790697674419 ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAAATGGAACATTAACATGA ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA mutant NA NA NA NA NA 141 47 0.995538007161229 1 0.997769003580615 0.845804463910826 0.837092525865911 0.892930410067606 0.974481266588613 NA NA 0.102607597093623 0.0255187334113874 0.841448494888368 0.933705838328109 NA 0.064063165252505 NA FALSE NA 0 -0.903 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 10/27 1 NA TCT C,T 8.236e-06 16:48124186 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003645277 intron_variant 0.378783 0.20527 0.02471 0.053691 0.690707080704418 0.0788646 2.20535216082614e-26 FALSE 4.06491e-06 ENSE00000945091_014 ENSE00000945091 014 16 48158080 48158249 - 44 72 54 G A 48158215 1608 35 ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCTATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA 48124168 48124338 48124303 48124304 48124304 upstr_intron -20 -0.351851851851852 ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCTATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA mutant NA NA NA NA NA 21 17 1 1 1 0.845804463910826 0.837092525865911 0.892930410067606 0.974481266588613 NA NA 0.107069589932394 0.0255187334113874 0.841448494888368 0.933705838328109 NA 0.0662941616718905 NA FALSE NA 0.002 -0.012 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 9/27 1 NA TGG G,A 8.236e-06 16:48124304 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003645277 intron_variant 0.214821 0.1747 0.01006 0.053691 0.376470605107922 0.148317 2.20535216082614e-26 FALSE 4.06171e-06 ENSE00000945091_015 ENSE00000945091 015 16 48158080 48158249 - 44 72 54 C G 48158219 1609 31 ACCCTCTAAGAAGTGGGAGAGAGTGACTGTCTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA 48124168 48124338 48124307 48124308 48124308 upstr_intron -24 -0.425925925925926 ACCCTCTAAGAAGTGGGAGAGAGTGACTGTCTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA mutant 48 79 0.85 0.85 0.85 NA NA NA NA NA 0.845804463910826 0.837092525865911 0.892930410067606 0.974481266588613 0.00419553608917422 0.012907474134089 NA NA 0.841448494888368 0.933705838328109 0.00855150511163161 NA NA NA FALSE 0.029 0.133 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:48124308 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003645277 intron_variant 0.439244 0.25197 0.06519 0.053691 0.765445813438135 0.148317 2.20535216082614e-26 FALSE 6.90496e-05 ENSE00000945091_020 ENSE00000945091 020 16 48158080 48158249 - 44 72 54 T A 48158228 1614 22 ACCCTCTAAGAAGTGGGAGAGTGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA 48124168 48124338 48124316 48124317 48124317 upstr_intron -33 -0.592592592592593 ACCCTCTAAGAAGTGGGAGAGTGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA ACCCTCTAAGAAGTGGGAGAGAGTGACTGTGTCCCATCTCTGTTTCTCTGGCAGGGGAAGATCTTGGGAATATGTGGGAATGTGGGAAGTGGAAAGAGCTCCCTCCTTGCAGCTCTCCTAGGACAGGTAAGCTGTGTGATGAGTGCTGTGAAGATGGAACATTAACATGA mutant 45 50 0.85 0.85 0.85 NA NA NA NA NA 0.845804463910826 0.837092525865911 0.892930410067606 0.974481266588613 0.00419553608917422 0.012907474134089 NA NA 0.841448494888368 0.933705838328109 0.00855150511163161 NA NA NA FALSE 0 -0.098 NA NA NA ABCC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:48124317 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003645277 intron_variant 0.642843 0.22031 0.0452 0.053691 0.834130003690073 0.148317 2.20535216082614e-26 FALSE 4.0625e-06 ENSE00000945143_000 ENSE00000945143 000 16 47682396 47682565 + 48 84 38 NA NA NA NA NA TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 NA NA NA NA NA NA TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT natural 48 37 0.997474135904793 0.979289014194126 0.98838157504946 2821 4650 0.787132710129253 0.875411216196465 0.831271963162859 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 0 0 0 0 0.98838157504946 0.831271963162859 0 0 0 FALSE FALSE NA NA NA NA NA PHKB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKB NA NA NA ENSG00000102893 ENSE00000945143 NA NA NA NA NA NA NA 3.16119097774812e-10 FALSE NA ENSE00000945143_002 ENSE00000945143 002 16 47682396 47682565 + 48 84 38 T C 47682417 1543 22 TGACATGGATTCTTACCTGACCCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648505 47648506 47648506 upstr_intron -27 -0.541666666666667 TGACATGGATTCTTACCTGACCCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant 29 12 1 1 1 14 627 1 0.81196023076655 0.905980115383275 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 0.00252586409520694 0.0207109858058738 0.212867289870747 -0.0634509854299151 0.98838157504946 0.831271963162859 0.0116184249505404 0.0747081522204157 0.0630897272698753 FALSE FALSE 0 -0.08 . intron_variant MODIFIER PHKB HGNC 8927 ENST00000299167 16/30 1 NA CTC T,C 8.236e-06 16:47648506 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 intron_variant 0.279813 0.15573 0.02385 0.162113 0.728358778797052 0.152352 3.16119097774812e-10 FALSE 1.62542e-05 ENSE00000945143_006 ENSE00000945143 006 16 47682396 47682565 + 48 84 38 T G 47682436 1547 41 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGGCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648524 47648525 47648525 upstr_intron -8 -0.145833333333333 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGGCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant 146 111 0 0 0 568 565 0.0283714269244307 0.149728268591162 0.0890498477577965 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 -0.997474135904793 -0.979289014194126 -0.758761283204823 -0.725682947605303 0.98838157504946 0.831271963162859 -0.98838157504946 -0.742222115405063 0.246159459644397 TRUE TRUE 1 4.925 rs181283702 splice_region_variant&intron_variant LOW PHKB HGNC 8927 ENST00000299167 16/30 rs181283702 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GTC T,G 1.647e-05 16:47648525 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 splice_region_variant 0.432531 0.98357 0.98122 0.262962 0.591058314569899 0.957934 3.16119097774812e-10 FALSE 2.43736e-05 ENSE00000945143_007 ENSE00000945143 007 16 47682396 47682565 + 48 84 38 C A 47682437 1548 42 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTATTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648525 47648526 47648526 upstr_intron -7 -0.125 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTATTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 79 307 0.999477903454022 0.99165059621675 0.995564249835386 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.212345193324768 0.116239380020285 0.98838157504946 0.831271963162859 NA 0.164292286672527 NA FALSE NA 0.996 0.735 . splice_region_variant&intron_variant LOW PHKB HGNC 8927 ENST00000299167 16/30 rs555263609 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TCT C,A 8.236e-06 16:47648526 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 splice_region_variant 0.591149 0.9612 0.91015 0.262962 0.508803870003677 0.33701 3.16119097774812e-10 FALSE 4.0624e-06 ENSE00000945143_008 ENSE00000945143 008 16 47682396 47682565 + 48 84 38 A C 47682442 1549 47 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACCGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648530 47648531 47648531 upstr_intron -2 -0.0208333333333333 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACCGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant 47 104 0 0 0 952 44 0.0114377205066565 0.00736639141739761 0.00940205596202705 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 -0.997474135904793 -0.979289014194126 -0.775694989622597 -0.868044824779068 0.98838157504946 0.831271963162859 -0.98838157504946 -0.821869907200832 0.166511667848627 TRUE TRUE 1 7.958 . splice_acceptor_variant HIGH PHKB HGNC 8927 ENST00000299167 16/30 1 NA HC CAG A,C 8.236e-06 16:47648531 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 splice_acceptor_variant 3.515344 0.99475 0.98924 0.262962 0.988959241272636 0.971937 3.16119097774812e-10 FALSE 4.06174e-06 ENSE00000945143_009 ENSE00000945143 009 16 47682396 47682565 + 48 84 38 T C 47682450 1550 55 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATCTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648538 47648539 47648539 exon 7 0.0833333333333333 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATCTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 413 1104 0.999900312619452 1 0.999950156309726 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.212767602490198 0.124588783803535 0.98838157504946 0.831271963162859 NA 0.168678193146866 NA FALSE NA 1 3.991 . synonymous_variant LOW PHKB HGNC 8927 ENST00000299167 17/31 1 NA TTT T,C 8.236e-06 16:47648539 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 synonymous_variant -0.608508 0.98544 0.89057 0.706298 0.520396025623873 0 3.16119097774812e-10 FALSE 4.06194e-06 ENSE00000945143_010 ENSE00000945143 010 16 47682396 47682565 + 48 84 38 T C 47682451 1551 56 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTCGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648539 47648540 47648540 exon 8 0.0952380952380952 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTCGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 278 225 1 1 1 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.212867289870747 0.124588783803535 0.98838157504946 0.831271963162859 NA 0.168728036837141 NA FALSE NA 1 5.272 . missense_variant MODERATE PHKB HGNC 8927 ENST00000299167 17/31 1 tolerated(0.52) benign(0.017) NA TTG T,C 8.236e-06 16:47648540 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 missense_variant 1.445499 0.98909 0.95427 0.706298 0.829121985800285 0 3.16119097774812e-10 FALSE 8.12361e-06 ENSE00000945143_011 ENSE00000945143 011 16 47682396 47682565 + 48 84 38 A G 47682466 1552 71 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAGTGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648554 47648555 47648555 exon 23 0.273809523809524 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAGTGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 137 138 0.995717119859062 0.996043298224724 0.995880209041893 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.208584409729808 0.120632082028258 0.98838157504946 0.831271963162859 NA 0.164608245879033 NA FALSE NA 1 7.958 rs139383341 missense_variant MODERATE PHKB HGNC 8927 ENST00000299167 17/31 rs139383341 1 tolerated(0.1) benign(0.376) G:0.0004 G:0.0008 G:0.0014 NA G:0 G:0 G:0 G:0 G:0.0006 AAT A,G 0.0002224 16:47648555 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 missense_variant 2.274166 0.98274 0.96978 0.706298 0.994832824865081 0 3.16119097774812e-10 FALSE 0.000235583 ENSE00000945143_012 ENSE00000945143 012 16 47682396 47682565 + 48 84 38 A G 47682471 1553 76 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAGAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648559 47648560 47648560 exon 28 0.333333333333333 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAGAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 992 317 0.887338683973355 0.999879856948583 0.943609270460969 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.100205973844102 0.124468640752117 0.98838157504946 0.831271963162859 NA 0.112337307298109 NA FALSE NA 1 7.958 . missense_variant MODERATE PHKB HGNC 8927 ENST00000299167 17/31 1 deleterious(0) probably_damaging(0.999) NA AAA A,G 1.647e-05 16:47648560 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 missense_variant 5.337109 0.99235 0.98355 0.706298 0.998864374585613 0 3.16119097774812e-10 FALSE 1.2185e-05 ENSE00000945143_013 ENSE00000945143 013 16 47682396 47682565 + 48 84 38 C T 47682482 1554 87 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTTTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648570 47648571 47648571 exon 39 0.464285714285714 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTTTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 512 154 0.998299734736896 1 0.999149867368448 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.211167024607642 0.124588783803535 0.98838157504946 0.831271963162859 NA 0.167877904205589 NA FALSE NA 0.924 -0.03 . synonymous_variant LOW PHKB HGNC 8927 ENST00000299167 17/31 1 NA TCT C,T 1.647e-05 16:47648571 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 synonymous_variant 0.746721 0.94826 0.53429 0.706298 0.530979381236856 0 3.16119097774812e-10 FALSE 8.12341e-06 ENSE00000945143_014 ENSE00000945143 014 16 47682396 47682565 + 48 84 38 A C 47682498 1555 103 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACCGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648586 47648587 47648587 exon -30 0.654761904761905 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACCGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 124 55 1 0.966988192272938 0.983494096136469 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.212867289870747 0.0915769760764721 0.98838157504946 0.831271963162859 NA 0.152222132973609 NA FALSE NA 1 6.071 . synonymous_variant LOW PHKB HGNC 8927 ENST00000299167 17/31 1 NA CAG A,C 8.236e-06 16:47648587 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 synonymous_variant -0.264648 0.98209 0.95085 0.706298 0.676586956698433 0 3.16119097774812e-10 FALSE 4.06213e-06 ENSE00000945143_015 ENSE00000945143 015 16 47682396 47682565 + 48 84 38 C A 47682502 1556 107 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCACATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648590 47648591 47648591 exon -26 0.702380952380952 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCACATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 519 100 0.996139069298987 0.998850060045553 0.99749456467227 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.209006359169734 0.123438843849088 0.98838157504946 0.831271963162859 NA 0.166222601509411 NA FALSE NA 1 6.671 . missense_variant MODERATE PHKB HGNC 8927 ENST00000299167 17/31 1 deleterious(0) probably_damaging(0.979) NA CCC C,A 8.237e-06 16:47648591 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 missense_variant 6.931046 0.99424 0.97992 0.706298 0.997189055084796 0 3.16119097774812e-10 FALSE 4.06223e-06 ENSE00000945143_018 ENSE00000945143 018 16 47682396 47682565 + 48 84 38 T C 47682532 1559 137 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACCCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648620 47648621 47648621 downstr_intron 5 1.13513513513514 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACCCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant 11 19 1 1 1 125 225 1 0.99124360886502 0.99562180443251 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 0.00252586409520694 0.0207109858058738 0.212867289870747 0.115832392668555 0.98838157504946 0.831271963162859 0.0116184249505404 0.164349841269651 0.15273141631911 FALSE FALSE 0 0.612 . splice_region_variant&intron_variant LOW PHKB HGNC 8927 ENST00000299167 17/30 1 NA CTC T,C 8.236e-06 16:47648621 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 splice_region_variant 0.874855 0.24367 0.02671 0.062308 0.592808643521644 0.395672 3.16119097774812e-10 FALSE 4.06332e-06 ENSE00000945143_019 ENSE00000945143 019 16 47682396 47682565 + 48 84 38 C T 47682533 1560 138 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTTATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 47648621 47648622 47648622 downstr_intron 6 1.16216216216216 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTTATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant 12 10 0.989450500084634 1 0.994725250042317 21 624 1 0.997836424751715 0.998918212375858 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 -0.00802363582015941 0.0207109858058738 0.212867289870747 0.12242520855525 0.98838157504946 0.831271963162859 0.00634367499285721 0.167646249212998 0.161302574220141 FALSE FALSE 0 -0.78 . splice_region_variant&intron_variant LOW PHKB HGNC 8927 ENST00000299167 17/30 rs367897446 1 NA T:0.0002 T:0 TCA C,T 1.647e-05 16:47648622 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 splice_region_variant 1.311586 0.18685 0.01526 0.062308 0.592139417582541 0.400693 3.16119097774812e-10 FALSE 8.12671e-06 ENSE00000945143_020 ENSE00000945143 020 16 47682396 47682565 + 48 84 38 A T 47682547 1561 152 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCTAAAAGTAGTTTTTGGATT 47648484 47648654 47648635 47648636 47648636 downstr_intron 20 1.54054054054054 TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCTAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT mutant NA NA NA NA NA 574 1205 0.997682886215577 1 0.998841443107788 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 NA NA 0.210550176086323 0.124588783803535 0.98838157504946 0.831271963162859 NA 0.167569479944929 NA FALSE NA 0 -0.149 . intron_variant MODIFIER PHKB HGNC 8927 ENST00000299167 17/30 1 NA CAA A,T 8.236e-06 16:47648636 PHKB HGNC Symbol protein_coding 240400 ENSG00000102893 ENSE00000945143 intron_variant 0.355031 0.17521 0.05362 0.062308 0.555613790721367 0.131045 3.16119097774812e-10 FALSE 4.06464e-06 ENSE00000945143_BRK ENSE00000945143 BRK 16 47682396 47682565 + 48 84 38 A,G; T,T NA NA NA TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACTTGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGCCACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT 47648484 47648654 NA NA NA NA NA NA TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACTTGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGCCACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT TGACATGGATTCTTACCTGACTCTAATTTACAAACTTGTGTCTTACAGGCTTATTTGCAGCTGGGTATCAATGAAAAGTTAGGACTCTCTGGAAGGCCAGACAGGCCCATTGGCTGCCTCGGGACATCAAAGGTACTCATGAAATGTCCTCAAAAAGTAGTTTTTGGATT control 170 124 0.0077286648637409 0 0.00386433243187045 1603 63 0 0.0103463595524946 0.00517317977624729 0.997474135904793 0.979289014194126 0.787132710129253 0.875411216196465 -0.989745471041052 -0.979289014194126 -0.787132710129253 -0.865064856643971 0.98838157504946 0.831271963162859 -0.984517242617589 -0.826098783386612 0.158418459230977 TRUE TRUE NA NA NA NA NA PHKB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKB NA NA NA ENSG00000102893 ENSE00000945143 NA NA NA NA NA NA NA 3.16119097774812e-10 FALSE NA ENSE00000945204_000 ENSE00000945204 000 16 71603719 71603888 - 38 84 48 NA NA NA NA NA CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 NA NA NA NA NA NA CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT natural NA NA NA NA NA 1196 721 0.997987001376476 0.993372658788329 0.995679830082403 NA NA 0.997987001376476 0.993372658788329 NA NA 0 0 NA 0.995679830082403 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00000945204 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000945204_013 ENSE00000945204 013 16 71603719 71603888 - 38 84 48 C T 71603814 2743 75 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCATTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569910 71569911 71569911 exon 27 0.321428571428571 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCATTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant 14 59 0.80982916126452 0.85 0.82991458063226 80 108 0.803250509680149 0.806974345444394 0.805112427562271 NA NA 0.997987001376476 0.993372658788329 NA NA -0.194736491696327 -0.186398313343935 NA 0.995679830082403 NA -0.190567402520131 NA FALSE NA 0.641 -0.007 NA NA NA RP11-432I5.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAT-AS1 NA NA NA ENSG00000260886 ENSE00000945204 synonymous_variant 2.272931 0.22471 0.11592 0.487112 0.765364036739782 0 NA NA 0.000212278 ENSE00000945298_000 ENSE00000945298 000 16 57149335 57149504 + 53 75 42 NA NA NA NA NA TCCCGGGCTTCCCCCGCTTCCTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA 57115422 57115592 NA NA NA NA NA NA TCCCGGGCTTCCCCCGCTTCCTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA TCCCGGGCTTCCCCCGCTTCCTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA natural 12 16 1 1 1 25 106 1 1 1 1 1 1 1 0 0 0 0 1 1 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE2 NA NA NA ENSG00000140848 ENSE00000945298 NA NA NA NA NA NA NA 0.544003069972159 FALSE NA ENSE00000945298_005 ENSE00000945298 005 16 57149335 57149504 + 53 75 42 C G 57149355 1883 21 TCCCGGGCTTCCCCCGCTTCGTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA 57115422 57115592 57115442 57115443 57115443 upstr_intron -33 -0.60377358490566 TCCCGGGCTTCCCCCGCTTCGTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA TCCCGGGCTTCCCCCGCTTCCTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA mutant NA NA NA NA NA 54 19 1 0.995890713462182 0.997945356731091 1 1 1 1 NA NA 0 -0.00410928653781772 1 1 NA -0.00205464326890886 NA FALSE NA 0 0.24 NA NA NA CPNE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:57115443 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945298 intron_variant 0.264726 0.28715 0.04137 0.162113 0.688951577066209 0.097882 0.544003069972159 FALSE 8.54745e-06 ENSE00000945298_013 ENSE00000945298 013 16 57149335 57149504 + 53 75 42 T C 57149428 1891 94 TCCCGGGCTTCCCCCGCTTCCTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCCGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA 57115422 57115592 57115515 57115516 57115516 exon -35 0.546666666666667 TCCCGGGCTTCCCCCGCTTCCTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCCGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA TCCCGGGCTTCCCCCGCTTCCTCACTGAGCGCCCTTTCTCCTCTCTCCCCTAGATCGTCTCCAGCAAGAAGATCACTAGGCCTCTGCTGCTGCTGAATGACAAGCCTGCGGGGAAGGGCTTGATTACGGTACCAGTCCCCTCCCGGCTCTCCGCACCCCCTCCATCCCCA mutant NA NA NA NA NA 163 84 1 1 1 1 1 1 1 NA NA 0 0 1 1 NA 0 NA FALSE NA 1 2.912 . missense_variant MODERATE CPNE2 HGNC 2315 ENST00000567487 2/5 1 tolerated(0.09) benign(0.001) NA CTG T,C 8.236e-06 16:57115516 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945298 missense_variant 2.536505 0.97645 0.8336 0.741868 0.99032667755823 0 0.544003069972159 FALSE NA ENSE00000945301_000 ENSE00000945301 000 16 57153428 57153597 + 45 90 35 NA NA NA NA NA TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 NA NA NA NA NA NA TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG natural 112 171 0.982554019785899 0.972123485863986 0.977338752824942 2780 1376 0.985633220308094 0.989986645959639 0.987809933133867 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 0 0 0 0 0.977338752824942 0.987809933133867 0 0 0 FALSE FALSE NA NA NA NA NA CPNE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE2 NA NA NA ENSG00000140848 ENSE00000945301 NA NA NA NA NA NA NA 0.544003069972159 FALSE NA ENSE00000945301_001 ENSE00000945301 001 16 57153428 57153597 + 45 90 35 G A 57153438 1942 11 TGCTGCCCAGAGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119525 57119526 57119526 upstr_intron -35 -0.755555555555556 TGCTGCCCAGAGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 209 185 0.85 0.832069902752372 0.841034951376186 162 61 0.933477472403884 0.87278043871462 0.903128955559252 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.132554019785899 -0.140053583111614 -0.0521557479042098 -0.117206207245019 0.977338752824942 0.987809933133867 -0.136303801448756 -0.0846809775746146 0.0516228238741416 FALSE FALSE 0.001 0.551 . intron_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 4/4 rs572179409 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 GGG G,A 0.0004285 16:57119526 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 intron_variant 1.601642 0.4129 0.13722 0.062308 0.763740328253138 0.894354 0.544003069972159 FALSE 0.000385871 ENSE00000945301_002 ENSE00000945301 002 16 57153428 57153597 + 45 90 35 C G 57153441 1943 14 TGCTGCCCAGGGCGTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119528 57119529 57119529 upstr_intron -32 -0.688888888888889 TGCTGCCCAGGGCGTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 84 20 0.85 0.85 0.85 NA NA NA NA NA 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.132554019785899 -0.122123485863986 NA NA 0.977338752824942 0.987809933133867 -0.127338752824942 NA NA NA FALSE 0 1.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:57119529 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 intron_variant 1.258488 0.19969 0.12034 0.062308 0.842328257976677 0.0692982 0.544003069972159 FALSE 0.0541317 ENSE00000945301_003 ENSE00000945301 003 16 57153428 57153597 + 45 90 35 C A 57153441 1944 14 TGCTGCCCAGGGCATGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119528 57119529 57119529 upstr_intron -32 -0.688888888888889 TGCTGCCCAGGGCATGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant NA NA NA NA NA 107 66 0.955542144249254 1 0.977771072124627 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA -0.0300910760588404 0.0100133540403606 0.977338752824942 0.987809933133867 NA -0.0100388610092399 NA FALSE NA 0 1.65 NA NA NA CPNE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE2 NA NA NA ENSG00000140848 ENSE00000945301 intron_variant 1.349706 0.26301 0.19129 0.062308 0.850029575316085 0.0692982 0.544003069972159 FALSE NA ENSE00000945301_005 ENSE00000945301 005 16 57153428 57153597 + 45 90 35 C T 57153446 1946 19 TGCTGCCCAGGGCCTGAGTTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119533 57119534 57119534 upstr_intron -27 -0.577777777777778 TGCTGCCCAGGGCCTGAGTTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant NA NA NA NA NA 247 18 0.959965437730448 0.895738258775616 0.927851848253032 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA -0.0256677825776465 -0.0942483871840238 0.977338752824942 0.987809933133867 NA -0.0599580848808351 NA FALSE NA 0 -1.729 . intron_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 4/4 1 NA GCT C,T 8.238e-06 16:57119534 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 intron_variant 0.867528 0.159 0.01096 0.062308 0.735665550911829 0.0692982 0.544003069972159 FALSE NA ENSE00000945301_006 ENSE00000945301 006 16 57153428 57153597 + 45 90 35 G T 57153452 1947 25 TGCTGCCCAGGGCCTGAGCTCACATCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119539 57119540 57119540 upstr_intron -21 -0.444444444444444 TGCTGCCCAGGGCCTGAGCTCACATCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 12 12 1 1 1 70 474 1 0.999274113173889 0.999637056586944 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 0.017445980214101 0.0278765141360143 0.0143667796919059 0.00928746721424922 0.977338752824942 0.987809933133867 0.0226612471750577 0.0118271234530776 0.0108341237219801 FALSE FALSE 0 -0.942 . intron_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 4/4 rs374879920 1 NA T:0.0002 T:0 AGC G,T 8.238e-06 16:57119540 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 intron_variant -0.296758 0.14354 0.02814 0.062308 0.370029962779149 0.0692982 0.544003069972159 FALSE NA ENSE00000945301_007 ENSE00000945301 007 16 57153428 57153597 + 45 90 35 C A 57153457 1948 30 TGCTGCCCAGGGCCTGAGCTCACAGCATCACTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119544 57119545 57119545 upstr_intron -16 -0.333333333333333 TGCTGCCCAGGGCCTGAGCTCACAGCATCACTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant NA NA NA NA NA 22 571 0.95541673663523 0.803375210821095 0.879395973728162 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA -0.0302164836728644 -0.186611435138545 0.977338752824942 0.987809933133867 NA -0.108413959405704 NA FALSE NA 0 -0.579 . intron_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 4/4 rs368970905 1 NA A:0.0005 A:0 CCC C,A 1.648e-05 16:57119545 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 intron_variant 0.635423 0.38999 0.1837 0.24053 0.755569648244774 0.0879941 0.544003069972159 FALSE 8.36512e-06 ENSE00000945301_008 ENSE00000945301 008 16 57153428 57153597 + 45 90 35 C G 57153460 1949 33 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTGTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119547 57119548 57119548 upstr_intron -13 -0.266666666666667 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTGTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 257 311 0.84786426577594 0.85 0.84893213288797 NA NA NA NA NA 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.134689754009959 -0.122123485863986 NA NA 0.977338752824942 0.987809933133867 -0.128406619936972 NA NA NA FALSE 0 0.873 . intron_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 4/4 1 NA TCT C,G 8.238e-06 16:57119548 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 intron_variant 0.349035 0.33072 0.17211 0.24053 0.746147941404049 0.0879941 0.544003069972159 FALSE 4.16153e-06 ENSE00000945301_009 ENSE00000945301 009 16 57153428 57153597 + 45 90 35 T C 57153461 1950 34 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCCCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119548 57119549 57119549 upstr_intron -12 -0.244444444444444 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCCCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant NA NA NA NA NA 182 1278 0.800884997083402 0.603906650918765 0.702395824001083 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA -0.184748223224692 -0.386079995040875 0.977338752824942 0.987809933133867 NA -0.285414109132783 NA FALSE NA 0 -0.705 . intron_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 4/4 1 NA CTC T,C 8.238e-06 16:57119549 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 intron_variant 0.113834 0.11109 0.01113 0.24053 0.656460987104525 0.0879941 0.544003069972159 FALSE 8.30765e-06 ENSE00000945301_010 ENSE00000945301 010 16 57153428 57153597 + 45 90 35 G A 57153473 1951 46 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGATGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119560 57119561 57119561 exon 1 0.0111111111111111 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGATGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 21 33 0.963274535231128 0.922166952922825 0.942720744076976 NA NA NA NA NA 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.0192794845547709 -0.0499565329411606 NA NA 0.977338752824942 0.987809933133867 -0.0346180087479658 NA NA NA FALSE 1 9.825 . missense_variant&splice_region_variant MODERATE CPNE2 HGNC 2315 ENST00000567487 5/5 1 deleterious(0) probably_damaging(0.995) NA GGT G,A 8.237e-06 16:57119561 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 missense_variant 6.407714 0.99441 0.99226 0.706298 0.998158619771913 0 0.544003069972159 FALSE NA ENSE00000945301_011 ENSE00000945301 011 16 57153428 57153597 + 45 90 35 A C 57153480 1952 53 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCACGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119567 57119568 57119568 exon 8 0.0888888888888889 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCACGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 12 11 0.944079467603622 0.85 0.897039733801811 121 261 0.993712537191257 0.990906115673982 0.992309326432619 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.0384745521822767 -0.122123485863986 0.00807931688316321 0.000919469714342314 0.977338752824942 0.987809933133867 -0.0802990190231312 0.00449939329875276 0.084798412321884 FALSE FALSE 1 7.56 . missense_variant MODERATE CPNE2 HGNC 2315 ENST00000567487 5/5 1 deleterious(0) probably_damaging(0.987) NA AAG A,C 8.237e-06 16:57119568 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 missense_variant 5.862408 0.9881 0.98353 0.706298 0.997122351252359 0 0.544003069972159 FALSE 8.21598e-06 ENSE00000945301_012 ENSE00000945301 012 16 57153428 57153597 + 45 90 35 A G 57153487 1953 60 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACGCTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119574 57119575 57119575 exon 15 0.166666666666667 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACGCTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant NA NA NA NA NA 854 30 0.962429316576529 1 0.981214658288265 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA -0.023203903731565 0.0100133540403606 0.977338752824942 0.987809933133867 NA -0.00659527484560218 NA FALSE NA 0 -4.305 . synonymous_variant LOW CPNE2 HGNC 2315 ENST00000567487 5/5 1 NA CAC A,G 1.647e-05 16:57119575 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 synonymous_variant -0.278481 0.16659 0.02013 0.706298 0.512275094945625 0 0.544003069972159 FALSE 4.0996e-06 ENSE00000945301_013 ENSE00000945301 013 16 57153428 57153597 + 45 90 35 T A 57153496 1954 69 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCAGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119583 57119584 57119584 exon 24 0.266666666666667 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCAGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 45 28 0.0571838249737954 0.0472358414946747 0.0522098332342351 378 598 0.975711512800572 0.993921763170052 0.984816637985312 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.925370194812103 -0.924887644369311 -0.00992170750752175 0.00393511721041284 0.977338752824942 0.987809933133867 -0.925128919590707 -0.00299329514855445 0.922135624442153 FALSE TRUE 0 -2.402 . synonymous_variant LOW CPNE2 HGNC 2315 ENST00000567487 5/5 rs369694975 1 NA A:0 A:0.0001 CTG T,A 3.295e-05 16:57119584 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 synonymous_variant 1.124884 0.21667 0.04122 0.706298 0.538141419328159 0 0.544003069972159 FALSE 2.04715e-05 ENSE00000945301_014 ENSE00000945301 014 16 57153428 57153597 + 45 90 35 T G 57153498 1955 71 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGGGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119585 57119586 57119586 exon 26 0.288888888888889 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGGGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant NA NA NA NA NA 18 51 1 0.993797942580439 0.99689897129022 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA 0.0143667796919059 0.00381129662079971 0.977338752824942 0.987809933133867 NA 0.00908903815635281 NA FALSE NA 1 3.491 . missense_variant MODERATE CPNE2 HGNC 2315 ENST00000567487 5/5 1 deleterious(0) benign(0.371) NA GTG T,G 8.237e-06 16:57119586 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 missense_variant 4.042903 0.98173 0.94968 0.706298 0.991553836223934 0 0.544003069972159 FALSE 4.09095e-06 ENSE00000945301_015 ENSE00000945301 015 16 57153428 57153597 + 45 90 35 G A 57153499 1956 72 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTATGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119586 57119587 57119587 exon 27 0.3 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTATGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 21 20 1 1 1 NA NA NA NA NA 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 0.017445980214101 0.0278765141360143 NA NA 0.977338752824942 0.987809933133867 0.0226612471750577 NA NA NA FALSE 1 0.85 . synonymous_variant LOW CPNE2 HGNC 2315 ENST00000567487 5/5 rs371600264 1 NA A:0 A:0.0001 TGT G,A 1.647e-05 16:57119587 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 synonymous_variant 1.2349 0.96543 0.80676 0.706298 0.761010040254374 0 0.544003069972159 FALSE 1.63622e-05 ENSE00000945301_016 ENSE00000945301 016 16 57153428 57153597 + 45 90 35 G C 57153523 1957 96 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTCGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119610 57119611 57119611 exon -40 0.566666666666667 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTCGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 323 378 0.848301150038627 0.85 0.849150575019313 28 4285 0.95 0.949893173173016 0.949946586586508 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.134252869747272 -0.122123485863986 -0.0356332203080941 -0.0400934727866233 0.977338752824942 0.987809933133867 -0.128188177805629 -0.0378633465473587 0.0903248312582701 FALSE FALSE 1 0.787 . missense_variant MODERATE CPNE2 HGNC 2315 ENST00000567487 5/5 1 deleterious(0.01) probably_damaging(0.98) NA TGG G,C 8.237e-06 16:57119611 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 missense_variant 4.893035 0.97698 0.90092 0.706298 0.998388910031095 0 0.544003069972159 FALSE 1.22933e-05 ENSE00000945301_018 ENSE00000945301 018 16 57153428 57153597 + 45 90 35 G A 57153532 1959 105 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTATGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119619 57119620 57119620 exon -31 0.666666666666667 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTATGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 68 203 0.85 0.85 0.85 887 146 0.966690621688221 0.966953502972115 0.966822062330168 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.132554019785899 -0.122123485863986 -0.0189425986198727 -0.0230331429875245 0.977338752824942 0.987809933133867 -0.127338752824942 -0.0209878708036986 0.106350882021244 FALSE FALSE 1 0.662 . synonymous_variant LOW CPNE2 HGNC 2315 ENST00000567487 5/5 1 NA TGT G,A 8.237e-06 16:57119620 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 synonymous_variant 1.287548 0.9716 0.86231 0.706298 0.713921431731111 0 0.544003069972159 FALSE NA ENSE00000945301_019 ENSE00000945301 019 16 57153428 57153597 + 45 90 35 G A 57153534 1960 107 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTATGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119621 57119622 57119622 exon -29 0.688888888888889 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTATGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 37 68 0.667807178710722 0.85 0.758903589355361 5151 83 0.949755936703124 0.885021253986144 0.917388595344634 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.314746841075177 -0.122123485863986 -0.0358772836049704 -0.104965391973496 0.977338752824942 0.987809933133867 -0.218435163469581 -0.070421337789233 0.148013825680348 FALSE FALSE 1 9.849 . missense_variant MODERATE CPNE2 HGNC 2315 ENST00000567487 5/5 1 deleterious(0.01) probably_damaging(0.998) NA TGT G,A 8.237e-06 16:57119622 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 missense_variant 6.358614 0.99441 0.99232 0.706298 0.996310757854333 0 0.544003069972159 FALSE NA ENSE00000945301_020 ENSE00000945301 020 16 57153428 57153597 + 45 90 35 G T 57153542 1961 115 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGTACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119629 57119630 57119630 exon -21 0.777777777777778 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGTACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 472 662 0.85 0.85 0.85 677 69 0.939256574953637 0.834989242122494 0.887122908538066 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.132554019785899 -0.122123485863986 -0.0463766453544571 -0.154997403837145 0.977338752824942 0.987809933133867 -0.127338752824942 -0.100687024595801 0.0266517282291412 FALSE FALSE 1 9.849 . missense_variant MODERATE CPNE2 HGNC 2315 ENST00000567487 5/5 1 deleterious(0) probably_damaging(0.983) NA GGA G,T 8.237e-06 16:57119630 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 missense_variant 6.648175 0.99456 0.99344 0.706298 0.994337944347031 0 0.544003069972159 FALSE 8.26651e-06 ENSE00000945301_021 ENSE00000945301 021 16 57153428 57153597 + 45 90 35 G A 57153562 1962 135 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAAGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119649 57119650 57119650 exon -1 1 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAAGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 76 253 0 0 0 24 82 0 0 0 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.982554019785899 -0.972123485863986 -0.985633220308094 -0.989986645959639 0.977338752824942 0.987809933133867 -0.977338752824942 -0.987809933133867 0.0104711803089245 TRUE TRUE 1 6.632 . downstream_gene_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 1 NA AGG G,A 8.241e-06 16:57119650 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 splice_region_variant 1.97387 0.99444 0.989 0.706298 0.937586008115633 0 0.544003069972159 FALSE 4.29078e-06 ENSE00000945301_022 ENSE00000945301 022 16 57153428 57153597 + 45 90 35 G A 57153567 1963 140 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAAGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119654 57119655 57119655 downstr_intron 5 1.14705882352941 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAAGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant NA NA NA NA NA 66 198 0.186752576533342 0 0.0933762882666708 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA -0.798880643774753 -0.989986645959639 0.977338752824942 0.987809933133867 NA -0.894433644867196 NA TRUE NA 1 4.199 . downstream_gene_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 rs561320662&TMP_ESP_16_57153567_57153567 1 A:0.0028 A:0 A:0.0043 NA A:0& A:0.008 A:0.0031& -:0.0028 -:0.0137 AGG G,A 0.009015 16:57119655 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 splice_region_variant 0.975405 0.88895 0.30327 0.099367 0.572615184125615 0.525794 0.544003069972159 FALSE 0.00895178 ENSE00000945301_023 ENSE00000945301 023 16 57153428 57153597 + 45 90 35 G A 57153569 1964 142 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGAGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 57119656 57119657 57119657 downstr_intron 7 1.20588235294118 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGAGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant NA NA NA NA NA 615 74 0.986824925240125 1 0.993412462620062 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA 0.00119170493203091 0.0100133540403606 0.977338752824942 0.987809933133867 NA 0.00560252948619577 NA FALSE NA 0.951 0.967 . downstream_gene_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 1 NA GGG G,A 8.24e-06 16:57119657 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 splice_region_variant 0.132449 0.25713 0.25288 0.062308 0.469912347998422 0.179169 0.544003069972159 FALSE 4.41844e-06 ENSE00000945301_024 ENSE00000945301 024 16 57153428 57153597 + 45 90 35 C T 57153583 1965 156 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCTTGCTCCCCACCTTG 57119515 57119685 57119670 57119671 57119671 downstr_intron 21 1.61764705882353 TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCTTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG mutant 207 350 0.86236457639466 0.85 0.85618228819733 167 109 0.968684187503154 0.969162575594436 0.968923381548795 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 -0.120189443391239 -0.122123485863986 -0.0169490328049401 -0.0208240703652037 0.977338752824942 0.987809933133867 -0.121156464627612 -0.0188865515850719 0.102269913042541 FALSE FALSE 0 -0.123 . downstream_gene_variant MODIFIER CPNE2 HGNC 2315 ENST00000567487 1 NA CCT C,T 1.649e-05 16:57119671 CPNE2 HGNC Symbol protein_coding 55830 ENSG00000140848 ENSE00000945301 intron_variant 0.644053 0.20756 0.05478 0.062308 0.772277511025877 0.0666035 0.544003069972159 FALSE 1.9258e-05 ENSE00000945301_BRK ENSE00000945301 BRK 16 57153428 57153597 + 45 90 35 A,G; T,T NA NA NA TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACTTGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGCCGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG 57119515 57119685 NA NA NA NA NA NA TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACTTGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGCCGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG TGCTGCCCAGGGCCTGAGCTCACAGCATCCCTCTCTGTCCCACAGGTGATCAAGTACACACTGGACCCTGTGTGGAAGCCATTCACAGTGCCCTTGGTGTCCCTGTGTGATGGGGACATGGAGAAGCCCATCCAGGTGAGGGGGCTCTGGGGACCCTGCTCCCCACCTTG control NA NA NA NA NA 109 1154 0.192824766688039 0.000316823369127084 0.0965707950285829 0.982554019785899 0.972123485863986 0.985633220308094 0.989986645959639 NA NA -0.792808453620055 -0.989669822590512 0.977338752824942 0.987809933133867 NA -0.891239138105284 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE2 NA NA NA ENSG00000140848 ENSE00000945301 NA NA NA NA NA NA NA 0.544003069972159 FALSE NA ENSE00000945724_000 ENSE00000945724 000 16 84476071 84476240 + 45 90 35 NA NA NA NA NA AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 NA NA NA NA NA NA ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT natural 488 639 0.840961719458821 0.851670632324819 0.84631617589182 1447 1923 0.804735479739207 0.818372842605965 0.811554161172586 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0 0 0 0 0.84631617589182 0.811554161172586 0 0 0 FALSE FALSE NA NA NA NA NA ATP2C2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP2C2 NA NA NA ENSG00000064270 ENSE00003459181 NA NA NA NA NA NA NA NA NA NA ENSE00000945724_001 ENSE00000945724 001 16 84476071 84476240 + 45 90 35 C G 84476083 2971 13 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTACTACTGGGCTCAT 84442464 84442634 84442476 84442477 84442477 upstr_intron -33 -0.711111111111111 ATGAGCCCAGTAGTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 409 65 0 0 0 NA NA NA NA NA 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.840961719458821 -0.851670632324819 NA NA 0.84631617589182 0.811554161172586 -0.84631617589182 NA NA NA TRUE 0.001 -0.297 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 11/23 1 NA ACT C,G 3.31e-05 16:84442477 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant -0.150956 0.18027 0.02215 0.053691 0.485305333097925 0.0455939 NA NA 2.84446e-05 ENSE00000945724_002 ENSE00000945724 002 16 84476071 84476240 + 45 90 35 C G 84476090 2972 20 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTCTAGTTAGTACTGGGCTCAT 84442464 84442634 84442483 84442484 84442484 upstr_intron -26 -0.555555555555556 ATGAGCCCAGTACTAACTAGAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 142 63 0.85 0.747180624590208 0.798590312295104 511 266 0.80377741101625 0.826611341656006 0.815194376336128 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117939 -0.104490007734612 -0.000958068722956118 0.00823849905004059 0.84631617589182 0.811554161172586 -0.0477258635967162 0.00364021516354224 0.0513660787602584 FALSE FALSE 0 -0.461 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 11/23 1 NA ACA C,G 8.275e-06 16:84442484 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant -0.26673 0.09367 0.00637 0.053691 0.511843968841709 0.0600639 NA NA 4.06174e-06 ENSE00000945724_003 ENSE00000945724 003 16 84476071 84476240 + 45 90 35 A C 84476091 2973 21 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCGGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442484 84442485 84442485 upstr_intron -25 -0.533333333333333 ATGAGCCCAGTACTAACTACCGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 255 193 0.85 0.85 0.85 1192 265 0.646386404728813 0.666636206792212 0.656511305760513 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 -0.158349075010393 -0.151736635813753 0.84631617589182 0.811554161172586 0.00368382410817991 -0.155042855412073 0.158726679520253 FALSE FALSE 0 -1.122 NA NA NA ATP2C2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84442485 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant -0.224231 0.11376 0.02471 0.053691 0.382280909644935 0.0600639 NA NA 3.24923e-05 ENSE00000945724_006 ENSE00000945724 006 16 84476071 84476240 + 45 90 35 C T 84476097 2976 27 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGAACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442490 84442491 84442491 upstr_intron -19 -0.4 ATGAGCCCAGTACTAACTACAGATGTTCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 10 10 0.85 0.85 0.85 78 392 0.959697252993872 0.950747267272704 0.955222260133288 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 0.154961773254665 0.132374424666738 0.84631617589182 0.811554161172586 0.00368382410817991 0.143668098960702 0.139984274852522 FALSE FALSE 0 -0.409 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 11/23 1 NA TCC C,T 8.275e-06 16:84442491 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant -0.218122 0.08905 0.00069 0.053691 0.432317064267756 0.0600639 NA NA 4.06154e-06 ENSE00000945724_009 ENSE00000945724 009 16 84476071 84476240 + 45 90 35 A G 84476103 2979 33 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATCGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442496 84442497 84442497 upstr_intron -13 -0.266666666666667 ATGAGCCCAGTACTAACTACAGATGTCCGGACGATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 85 156 0.82376745403128 0.85 0.83688372701564 150 50 0.795506048266007 0.838823802369011 0.817164925317509 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.017194265427541 -0.00167063232481945 -0.00922943147319966 0.0204509597630457 0.84631617589182 0.811554161172586 -0.00943244887618022 0.00561076414492301 0.0150432130211032 FALSE FALSE 0 -1.361 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 11/23 1 NA CAA A,G 8.275e-06 16:84442497 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant 0.264003 0.24206 0.03299 0.053691 0.709131691006293 0.0600639 NA NA 1.21836e-05 ENSE00000945724_010 ENSE00000945724 010 16 84476071 84476240 + 45 90 35 A G 84476104 2980 34 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGACTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442497 84442498 84442498 upstr_intron -12 -0.244444444444444 ATGAGCCCAGTACTAACTACAGATGTCCGGACAGTCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 47 30 0 0 0 NA NA NA NA NA 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.840961719458821 -0.851670632324819 NA NA 0.84631617589182 0.811554161172586 -0.84631617589182 NA NA NA TRUE 0 -0.249 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 11/23 1 NA AAT A,G 8.275e-06 16:84442498 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant 0.472977 0.12568 0.01332 0.053691 0.578955080358805 0.0455939 NA NA 4.06121e-06 ENSE00000945724_012 ENSE00000945724 012 16 84476071 84476240 + 45 90 35 C G 84476107 2982 37 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGCGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442500 84442501 84442501 upstr_intron -9 -0.177777777777778 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCGCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 168 99 0 0 0 658 19 0.0535032961133651 0 0.0267516480566826 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.840961719458821 -0.851670632324819 -0.751232183625841 -0.818372842605965 0.84631617589182 0.811554161172586 -0.84631617589182 -0.784802513115903 0.0615136627759167 TRUE TRUE 0 -0.004 NA NA NA ATP2C2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84442501 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant 0.849776 0.26128 0.01469 0.053691 0.63692100078186 0.119757 NA NA 4.06128e-06 ENSE00000945724_013 ENSE00000945724 013 16 84476071 84476240 + 45 90 35 C T 84476117 2983 47 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCACCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442510 84442511 84442511 exon 2 0.0222222222222222 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGTGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 37 28 0.900928623258075 0.888896206955346 0.89491241510671 986 194 0.86081329319536 0.8 0.83040664659768 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.0599669037992545 0.0372255746305263 0.0560778134561531 -0.0183728426059653 0.84631617589182 0.811554161172586 0.0485962392148904 0.0188524854250939 0.0297437537897965 FALSE FALSE 0.982 2.716 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ATP2C2 HGNC 29103 ENST00000420010 12/24 1 NA GCG C,T 5.792e-05 16:84442511 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 5.036331 0.98717 0.89295 0.554377 0.982016480264547 0 NA NA 5.68597e-05 ENSE00000945724_014 ENSE00000945724 014 16 84476071 84476240 + 45 90 35 C A 84476129 2984 59 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGTCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442522 84442523 84442523 exon 14 0.155555555555556 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGACAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 12 12 0.85 0.85 0.85 24 110 0.816508355186033 0.942928950093882 0.879718652639957 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 0.0117728754468268 0.124556107487916 0.84631617589182 0.811554161172586 0.00368382410817991 0.0681644914673715 0.0644806673591916 FALSE FALSE 1 3.756 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 rs369884993 1 NA A:0 A:0.0001 GCC C,A 1.655e-05 16:84442523 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 6.933046 0.9867 0.88876 0.615465 0.997061437866978 0 NA NA 1.62452e-05 ENSE00000945724_015 ENSE00000945724 015 16 84476071 84476240 + 45 90 35 A C 84476132 2985 62 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGGTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442525 84442526 84442526 exon 17 0.188888888888889 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCACCAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 208 1683 0.791076132728367 0.678059167700163 0.734567650214265 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA -0.0136593470108394 -0.140313674905802 0.84631617589182 0.811554161172586 NA -0.0769865109583208 NA FALSE NA 1 8.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84442526 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 6.031319 0.99316 0.98779 0.615465 0.996752716149173 0 NA NA 8.12242e-06 ENSE00000945724_016 ENSE00000945724 016 16 84476071 84476240 + 45 90 35 A G 84476132 2986 62 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGCTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442525 84442526 84442526 exon 17 0.188888888888889 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAGCAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 22 15 0.85 0.85 0.85 624 60 0.817282663044761 0.868576458017008 0.842929560530884 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 0.0125471833055546 0.0502036154110422 0.84631617589182 0.811554161172586 0.00368382410817991 0.0313753993582984 0.0276915752501185 FALSE FALSE 1 8.453 NA NA NA ATP2C2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP2C2 NA NA NA ENSG00000064270 ENSE00003459181 missense_variant 5.723174 0.99306 0.98691 0.615465 0.998868386385624 0 NA NA 8.12242e-06 ENSE00000945724_017 ENSE00000945724 017 16 84476071 84476240 + 45 90 35 A G 84476134 2987 64 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATCGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442527 84442528 84442528 exon 19 0.211111111111111 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACGATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 171 795 1 0.995945161496712 0.997972580748356 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA 0.195264520260793 0.177572318890747 0.84631617589182 0.811554161172586 NA 0.18641841957577 NA FALSE NA 1 6.432 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 1 NA CAA A,G 2.482e-05 16:84442528 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 4.808054 0.98768 0.88845 0.615465 0.993058071646601 0 NA NA 2.43673e-05 ENSE00000945724_018 ENSE00000945724 018 16 84476071 84476240 + 45 90 35 A G 84476135 2988 65 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCACTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442528 84442529 84442529 exon 20 0.222222222222222 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAGTGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 972 15 0.84922809918242 0.8 0.82461404959121 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA 0.0444926194432135 -0.0183728426059653 0.84631617589182 0.811554161172586 NA 0.0130598884186241 NA FALSE NA 1 8.453 rs189678245 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 rs189678245&COSM390917 1 G:0.0010 G:0.003 G:0 NA G:0.001 G:0 G:0 G:0.0013 G:0 AAT A,G 0.000273 16:84442529 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 5.683812 0.99306 0.98691 0.615465 0.998829209550376 0 NA NA 0.000243673 ENSE00000945724_020 ENSE00000945724 020 16 84476071 84476240 + 45 90 35 A G 84476148 2990 78 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTCCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442541 84442542 84442542 exon 33 0.366666666666667 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGGAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 400 630 0.958219594596886 0.989023224470297 0.973621409533592 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA 0.153484114857679 0.170650381864332 0.84631617589182 0.811554161172586 NA 0.162067248361006 NA FALSE NA 0.89 0.295 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 1 NA GAA A,G 8.274e-06 16:84442542 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 synonymous_variant -0.683425 0.23873 0.12172 0.615465 0.542892161535451 0 NA NA 1.62454e-05 ENSE00000945724_021 ENSE00000945724 021 16 84476071 84476240 + 45 90 35 A G 84476150 2991 80 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCCTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442543 84442544 84442544 exon 35 0.388888888888889 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAGGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 536 29 0.970579313242999 0.994506862966565 0.982543088104782 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA 0.165843833503793 0.176134020360599 0.84631617589182 0.811554161172586 NA 0.170988926932196 NA FALSE NA 0.93 3.844 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 rs201858986 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0016 G:0.0002 AAG A,G 0.0001324 16:84442544 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 0.22895 0.4176 0.77226 0.615465 0.976534079574292 0 NA NA 0.000121843 ENSE00000945724_022 ENSE00000945724 022 16 84476071 84476240 + 45 90 35 C A 84476154 2992 84 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCTTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442547 84442548 84442548 exon 39 0.433333333333333 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAAAGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 137 198 0.8 0.8 0.8 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA -0.00473547973920652 -0.0183728426059653 0.84631617589182 0.811554161172586 NA -0.0115541611725859 NA FALSE NA 0.001 -0.204 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84442548 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 1.601147 0.36526 0.09833 0.615465 0.946142509947022 0 NA NA 4.06164e-06 ENSE00000945724_023 ENSE00000945724 023 16 84476071 84476240 + 45 90 35 C T 84476154 2993 84 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCATTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442547 84442548 84442548 exon 39 0.433333333333333 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAATGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 161 460 0.0822598240480888 0.00109980740777203 0.0416798157279304 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA -0.722475655691118 -0.817273035198193 0.84631617589182 0.811554161172586 NA -0.769874345444655 NA TRUE NA 0.001 -0.204 NA NA NA ATP2C2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP2C2 NA NA NA ENSG00000064270 ENSE00003459181 synonymous_variant 1.366008 0.36422 0.06849 0.615465 0.630308222077382 0 NA NA 4.87397e-05 ENSE00000945724_024 ENSE00000945724 024 16 84476071 84476240 + 45 90 35 C A 84476156 2994 86 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGTCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442549 84442550 84442550 exon 41 0.455555555555556 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGACGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 214 128 0.998646029423601 1 0.999323014711801 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA 0.193910549684395 0.181627157394035 0.84631617589182 0.811554161172586 NA 0.187768853539215 NA FALSE NA 0 1.748 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 1 NA GCC C,A 8.274e-06 16:84442550 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 1.513388 0.46879 0.13546 0.615465 0.905122240129073 0 NA NA 8.12301e-06 ENSE00000945724_025 ENSE00000945724 025 16 84476071 84476240 + 45 90 35 C T 84476157 2995 87 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACAGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442550 84442551 84442551 exon 42 0.466666666666667 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCTGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 134 249 0.845898643431913 0.85 0.847949321715956 241 137 0.8 0.8 0.8 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.0049369239730922 -0.00167063232481945 -0.00473547973920652 -0.0183728426059653 0.84631617589182 0.811554161172586 0.00163314582413637 -0.0115541611725859 0.0131873069967223 FALSE FALSE 0 -4.198 rs116185386 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 rs116185386 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0008 T:0 CCG C,T 5.792e-05 16:84442551 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 synonymous_variant 1.756736 0.17383 0.01232 0.615465 0.475362234887454 0 NA NA 5.68634e-05 ENSE00000945724_027 ENSE00000945724 027 16 84476071 84476240 + 45 90 35 T A 84476162 2997 92 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCTTCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442555 84442556 84442556 exon -44 0.522222222222222 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGAAGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 122 180 0.85 0.843837192571654 0.846918596285827 NA NA NA NA NA 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00783343975316564 NA NA 0.84631617589182 0.811554161172586 0.00060242039400682 NA NA NA FALSE 1 7.267 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 1 NA ATG T,A 2.482e-05 16:84442556 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 4.453221 0.99297 0.98046 0.615465 0.973119133051974 0 NA NA 1.2185e-05 ENSE00000945724_031 ENSE00000945724 031 16 84476071 84476240 + 45 90 35 C T 84476175 3001 105 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCAGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442568 84442569 84442569 exon -31 0.666666666666667 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACTGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 187 173 0 0 0 568 77 0 0 0 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.840961719458821 -0.851670632324819 -0.804735479739207 -0.818372842605965 0.84631617589182 0.811554161172586 -0.84631617589182 -0.811554161172586 0.0347620147192341 TRUE TRUE 0 -2.172 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 rs201800417 1 NA T:0.0003 T:0 CCG C,T 2.482e-05 16:84442569 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 synonymous_variant 1.138134 0.10513 0.02235 0.615465 0.567830978682265 0 NA NA 2.43722e-05 ENSE00000945724_033 ENSE00000945724 033 16 84476071 84476240 + 45 90 35 G C 84476178 3003 108 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCGTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442571 84442572 84442572 exon -28 0.7 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGACGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 135 124 0 0 0 127 46 0 0 0 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.840961719458821 -0.851670632324819 -0.804735479739207 -0.818372842605965 0.84631617589182 0.811554161172586 -0.84631617589182 -0.811554161172586 0.0347620147192341 TRUE TRUE 0.993 0.217 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 1 NA AGG G,C 0.000182 16:84442572 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant -0.608537 0.96432 0.80343 0.615465 0.82391876300092 0 NA NA 9.74881e-05 ENSE00000945724_034 ENSE00000945724 034 16 84476071 84476240 + 45 90 35 T C 84476185 3004 115 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAGTGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442578 84442579 84442579 exon -21 0.777777777777778 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCACTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 12 28 0.85 0.85 0.85 167 43 0.892951870677946 0.889323185725492 0.891137528201719 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 0.088216390938739 0.0709503431195263 0.84631617589182 0.811554161172586 0.00368382410817991 0.0795833670291327 0.0758995429209527 FALSE FALSE 0.027 0.135 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 rs368669482 1 NA C:0 C:0.0001 ATT T,C 1.655e-05 16:84442579 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 synonymous_variant -0.812538 0.22613 0.01348 0.615465 0.342111288149725 0 NA NA 8.12519e-06 ENSE00000945724_036 ENSE00000945724 036 16 84476071 84476240 + 45 90 35 T C 84476195 3006 125 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCGGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442588 84442589 84442589 exon -11 0.888888888888889 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCCGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 47 102 0.85 0.85 0.85 126 126 0.783278492980782 0.8 0.791639246490391 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481934 -0.021456986758425 -0.0183728426059653 0.84631617589182 0.811554161172586 0.00368382410817997 -0.0199149146821951 0.0235987387903751 FALSE FALSE 1 7.267 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84442589 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 5.592843 0.99272 0.97785 0.615465 0.998620135550576 0 NA NA 4.06339e-06 ENSE00000945724_037 ENSE00000945724 037 16 84476071 84476240 + 45 90 35 T G 84476195 3007 125 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCCCGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442588 84442589 84442589 exon -11 0.888888888888889 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCGGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 10 10 0.85 0.85 0.85 NA NA NA NA NA 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 NA NA 0.84631617589182 0.811554161172586 0.00368382410817991 NA NA NA FALSE 1 7.267 NA NA NA ATP2C2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP2C2 NA NA NA ENSG00000064270 ENSE00003459181 missense_variant 4.843374 0.99294 0.98159 0.615465 0.997370842029493 0 NA NA 8.12678e-06 ENSE00000945724_038 ENSE00000945724 038 16 84476071 84476240 + 45 90 35 G A 84476196 3008 126 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACCTTCATCGCTAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442589 84442590 84442590 exon -10 0.9 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTAGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 65 10 0.85 0.85 0.85 NA NA NA NA NA 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 NA NA 0.84631617589182 0.811554161172586 0.00368382410817991 NA NA NA FALSE 1 0.412 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 1 NA TGG G,A 8.275e-06 16:84442590 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 synonymous_variant 0.479219 0.97233 0.78893 0.615465 0.641022393738799 0 NA NA 2.03184e-05 ENSE00000945724_041 ENSE00000945724 041 16 84476071 84476240 + 45 90 35 A T 84476200 3011 130 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGTTGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT 84442464 84442634 84442593 84442594 84442594 exon -6 0.944444444444444 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGTTGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 64 100 0 0 0 153 170 0.00758753771165939 0.00570215387406482 0.0066448457928621 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.840961719458821 -0.851670632324819 -0.797147942027547 -0.812670688731901 0.84631617589182 0.811554161172586 -0.84631617589182 -0.804909315379724 0.0414068605120963 TRUE TRUE 1 6.632 rs247897 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/24 rs247897&COSM3755148 1 T:0.4081 T:0.4713 T:0.3401 NA T:0.4226 T:0.3499 T:0.4162 T:0.4211 T:0.3751 GAT A,T 0.373 16:84442594 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 missense_variant 1.316016 0.98828 0.96755 0.554377 0.792899672851624 0 NA NA 0.370256 ENSE00000945724_042 ENSE00000945724 042 16 84476071 84476240 + 45 90 35 G A 84476205 3012 135 AGAATTCCCCGCAGAGCCACCCCAGGACCTCCTACTTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442598 84442599 84442599 exon -1 1 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAAGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 94 50 0 0 0 319 545 0 0.0374909247182224 0.0187454623591112 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.840961719458821 -0.851670632324819 -0.804735479739207 -0.780881917887743 0.84631617589182 0.811554161172586 -0.84631617589182 -0.792808698813475 0.0535074770783454 TRUE TRUE 1 7.044 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ATP2C2 HGNC 29103 ENST00000420010 12/24 1 NA AGG G,A 8.274e-06 16:84442599 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 splice_region_variant 1.380144 0.99041 0.97229 0.554377 0.864082481147801 0 NA NA 0 ENSE00000945724_043 ENSE00000945724 043 16 84476071 84476240 + 45 90 35 G A 84476212 3013 142 AGAATTCCCCGCAGAGCCACCCCAGGACTTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442605 84442606 84442606 downstr_intron 7 1.20588235294118 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAAGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 42 72 0.85 0.85 0.85 11 479 0.8 0.800527729169889 0.800263864584944 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117939 -0.00167063232481945 -0.00473547973920641 -0.0178451134360764 0.84631617589182 0.811554161172586 0.00368382410817997 -0.0112902965876414 0.0149741206958214 FALSE FALSE 0 -0.897 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ATP2C2 HGNC 29103 ENST00000420010 12/23 1 NA AGG G,A 8.274e-06 16:84442606 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 splice_region_variant -0.456764 0.1891 0.01201 0.06567 0.582963194778676 0.0958578 NA NA 2.03325e-05 ENSE00000945724_045 ENSE00000945724 045 16 84476071 84476240 + 45 90 35 G T 84476220 3015 150 AGAATTCCCCGCAGAGCCACACCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442613 84442614 84442614 downstr_intron 15 1.44117647058824 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGTGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 69 38 0.730149943598221 0.85 0.790074971799111 144 639 0.8 0.8 0.8 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.1108117758606 -0.00167063232481945 -0.00473547973920652 -0.0183728426059653 0.84631617589182 0.811554161172586 -0.0562412040927095 -0.0115541611725859 0.0446870429201236 FALSE FALSE 0 0.225 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/23 1 NA GGG G,T 8.275e-06 16:84442614 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant -0.107894 0.29352 0.04033 0.06567 0.403000279900726 0.046323 NA NA 4.06961e-06 ENSE00000945724_046 ENSE00000945724 046 16 84476071 84476240 + 45 90 35 G T 84476221 3016 151 AGAATTCCCCGCAGAGCCAACCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442614 84442615 84442615 downstr_intron 16 1.47058823529412 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGTTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant NA NA NA NA NA 1136 60 0.749459921655553 0.8 0.774729960827777 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 NA NA -0.0552755580836533 -0.0183728426059653 0.84631617589182 0.811554161172586 NA -0.0368242003448093 NA FALSE NA 0 -1.668 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/23 1 NA GGT G,T 8.275e-06 16:84442615 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant -0.549411 0.12702 0.00854 0.06567 0.43777314848437 0.046323 NA NA 4.07063e-06 ENSE00000945724_047 ENSE00000945724 047 16 84476071 84476240 + 45 90 35 G T 84476224 3017 154 AGAATTCCCCGCAGAGACACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442617 84442618 84442618 downstr_intron 19 1.55882352941176 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGTCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 55 82 0.85 0.85 0.85 195 284 0.853480927799546 0.87304037760351 0.863260652701528 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 0.0487454480603396 0.0546675349975443 0.84631617589182 0.811554161172586 0.00368382410817991 0.051706491528942 0.0480226674207621 FALSE FALSE 0 -0.741 rs2288581 intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/23 rs2288581 1 T:0.2827 T:0.1649 T:0.3487 NA T:0.5278 T:0.166 T:0.2628 T:0.1787 T:0.1466 GGC T,T 0.211 16:84442618 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant -0.214838 0.1853 0.00165 0.06567 0.450668378088317 0.0609381 NA NA 0.21431 ENSE00000945724_049 ENSE00000945724 049 16 84476071 84476240 + 45 90 35 C T 84476230 3019 160 AGAATTCCCCACAGAGCCACCCCAGGACCTCCTACCTTCATCGCCAGGGCCATCAATGCACCCTCGGTGGGCTGCCCCATCACGGCGTTCTTTCTGATGACCGCATTGTTGGCAACACAGCCCGCCTAAAAGGGGATTGTCCGGACATCTGTAGTTAGTACTGGGCTCAT 84442464 84442634 84442623 84442624 84442624 downstr_intron 25 1.73529411764706 ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGTGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT mutant 34 15 0.85 0.85 0.85 NA NA NA NA NA 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 0.00903828054117928 -0.00167063232481945 NA NA 0.84631617589182 0.811554161172586 0.00368382410817991 NA NA NA FALSE 0 -1.717 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000420010 12/23 rs371657384 1 NA T:0 T:0.0001 GCG C,T 8.275e-06 16:84442624 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003459181 intron_variant -0.442842 0.13165 0.00326 0.06567 0.795102939091894 0.0609381 NA NA NA ENSE00000945724_BRK ENSE00000945724 BRK 16 84476071 84476240 + 45 90 35 A,G; T,T NA NA NA ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTTTGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGCCAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT 84442464 84442634 NA NA NA NA NA NA ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTTTGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGCCAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT ATGAGCCCAGTACTAACTACAGATGTCCGGACAATCCCCTTTTAGGCGGGCTGTGTTGCCAACAATGCGGTCATCAGAAAGAACGCCGTGATGGGGCAGCCCACCGAGGGTGCATTGATGGCCCTGGCGATGAAGGTAGGAGGTCCTGGGGTGGCTCTGCGGGGAATTCT control 18 16 0 0 0 143 160 0 0 0 0.840961719458821 0.851670632324819 0.804735479739207 0.818372842605965 -0.840961719458821 -0.851670632324819 -0.804735479739207 -0.818372842605965 0.84631617589182 0.811554161172586 -0.84631617589182 -0.811554161172586 0.0347620147192341 TRUE TRUE NA NA NA NA NA ATP2C2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP2C2 NA NA NA ENSG00000064270 ENSE00003459181 NA NA NA NA NA NA NA NA NA NA ENSE00000946068_000 ENSE00000946068 000 16 88958255 88958424 - 35 90 45 NA NA NA NA NA ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 NA NA NA NA NA NA ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC natural 91 63 0.996759266104558 0.997680474162263 0.997219870133411 1457 2086 0.965454924341624 0.990828815912508 0.978141870127066 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 0 0 0 0 0.997219870133411 0.978141870127066 0 0 0 FALSE FALSE NA NA NA NA NA CBFA2T3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CBFA2T3 NA NA NA ENSG00000129993 ENSE00000946068 NA NA NA NA NA NA NA 0.454440081718265 FALSE NA ENSE00000946068_001 ENSE00000946068 001 16 88958255 88958424 - 35 90 45 C T 88958268 3347 157 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCATGCTGCGGGAGCC 88891846 88892016 88891859 88891860 88891860 downstr_intron 22 1.64705882352941 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCATGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 1145 827 0.998152412403947 0.921729307021051 0.959940859712499 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0326974880623239 -0.0690995088914571 0.997219870133411 0.978141870127066 NA -0.0182010104145666 NA FALSE NA 0 -0.862 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA ACG C,T 2.476e-05 16:88891860 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant -0.084994 0.12373 0.00445 0.115753 0.616673321608675 0.0476178 0.454440081718265 FALSE 3.32292e-05 ENSE00000946068_003 ENSE00000946068 003 16 88958255 88958424 - 35 90 45 G T 88958272 3349 153 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCACCCGTGCTGCGGGAGCC 88891846 88892016 88891863 88891864 88891864 downstr_intron 18 1.52941176470588 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCACCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 11 62 1 0.991338868984029 0.995669434492015 307 780 1 0.997818308448935 0.998909154224467 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 0.00324073389544188 -0.00634160517823434 0.0345450756583764 0.00698949253642644 0.997219870133411 0.978141870127066 -0.00155043564139623 0.0207672840974014 0.0223177197387976 FALSE FALSE 0 -0.358 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA GGG G,T 1.65e-05 16:88891864 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant -0.328971 0.17502 0.02544 0.115753 0.684442569449829 0.0476178 0.454440081718265 FALSE NA ENSE00000946068_004 ENSE00000946068 004 16 88958255 88958424 - 35 90 45 C T 88958275 3350 150 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCATCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891866 88891867 88891867 downstr_intron 15 1.44117647058824 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCATCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 13 20 0.94099551743358 0.982180226882059 0.961587872157819 685 958 0.99485841931429 0.999960264989071 0.99740934215168 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 -0.0557637486709781 -0.0155002472802045 0.0294034949726663 0.00913144907656238 0.997219870133411 0.978141870127066 -0.0356319979755913 0.0192674720246143 0.0548994700002056 FALSE FALSE 0 -4.379 NA NA NA CBFA2T3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:88891867 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant -0.775367 0.03742 0.00349 0.256867 0.809317748130571 0.0476178 0.454440081718265 FALSE 0.000172999 ENSE00000946068_006 ENSE00000946068 006 16 88958255 88958424 - 35 90 45 G A 88958276 3352 149 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCTGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891867 88891868 88891868 downstr_intron 14 1.41176470588235 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCTGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 13 32 1 0.999837095403769 0.999918547701885 19 828 1 0.993132507380841 0.99656625369042 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 0.00324073389544188 0.00215662124150584 0.0345450756583764 0.00230369146833254 0.997219870133411 0.978141870127066 0.00269867756847386 0.0184243835633545 0.0157257059948806 FALSE FALSE 0 -3.934 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA CGG G,A 8.251e-06 16:88891868 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant 0.32205 0.19337 0.0063 0.256867 0.779902677418203 0.0476178 0.454440081718265 FALSE NA ENSE00000946068_007 ENSE00000946068 007 16 88958255 88958424 - 35 90 45 C G 88958282 3353 143 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCCAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891873 88891874 88891874 downstr_intron 8 1.23529411764706 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCCAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 1863 611 0.995386994780428 0.995987226645233 0.995687110712831 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0299320704388046 0.00515841073272516 0.997219870133411 0.978141870127066 NA 0.0175452405857649 NA FALSE NA 0 -0.428 NA NA NA CBFA2T3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:88891874 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 splice_region_variant 0.231708 0.14555 0.00273 0.256867 0.631759757503913 0.0476178 0.454440081718265 FALSE 0.242316 ENSE00000946068_009 ENSE00000946068 009 16 88958255 88958424 - 35 90 45 C T 88958284 3355 141 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATACGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891875 88891876 88891876 downstr_intron 6 1.17647058823529 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATACGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 218 846 0.964896294469014 0.988785705211573 0.976840999840294 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA -0.000558629872609351 -0.00204311070093499 0.997219870133411 0.978141870127066 NA -0.00130087028677217 NA FALSE NA 0 -0.692 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs369980008 1 NA T:0.0002 T:0 GCA C,T 8.249e-06 16:88891876 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 splice_region_variant 0.503036 0.18816 0.00893 0.256867 0.882075652623643 0.118805 0.454440081718265 FALSE 4.08821e-06 ENSE00000946068_010 ENSE00000946068 010 16 88958255 88958424 - 35 90 45 T G 88958292 3356 133 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGCAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891883 88891884 88891884 exon -3 0.977777777777778 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGCAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 1827 356 0.996258910819638 0.999555492730238 0.997907201774938 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0308039864780142 0.00872667681772965 0.997219870133411 0.978141870127066 NA 0.0197653316478719 NA FALSE NA 1 7.259 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA TTC T,G 8.247e-06 16:88891884 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 missense_variant 3.862795 0.99146 0.99023 0.67177 0.979758807803537 0 0.454440081718265 FALSE 1.22378e-05 ENSE00000946068_011 ENSE00000946068 011 16 88958255 88958424 - 35 90 45 C T 88958311 3357 114 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCATTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891902 88891903 88891903 exon -22 0.766666666666667 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCATTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 18 16 0.997954467391537 0.97424462255682 0.986099544974179 111 187 0.998131356830647 0.999796228216871 0.998963792523759 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 0.00119520128697936 -0.023435851605443 0.0326764324890234 0.00896741230436315 0.997219870133411 0.978141870127066 -0.0111203251592318 0.0208219223966933 0.0319422475559251 FALSE FALSE 0 -3.919 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA ACG C,T 8.243e-06 16:88891903 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 synonymous_variant 2.106614 0.117 0.01433 0.67177 0.926544998502031 0 0.454440081718265 FALSE 1.62945e-05 ENSE00000946068_012 ENSE00000946068 012 16 88958255 88958424 - 35 90 45 C T 88958315 3358 110 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCAGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891906 88891907 88891907 exon -26 0.722222222222222 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCAGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 87 896 1 0.999702126552899 0.99985106327645 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0345450756583764 0.00887331064039087 0.997219870133411 0.978141870127066 NA 0.0217091931493836 NA FALSE NA 1 7.061 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA CCG C,T 1.649e-05 16:88891907 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 missense_variant 7.189598 0.98892 0.98585 0.67177 0.999294070110071 0 0.454440081718265 FALSE 8.14485e-06 ENSE00000946068_013 ENSE00000946068 013 16 88958255 88958424 - 35 90 45 G A 88958316 3359 109 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGTGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891907 88891908 88891908 exon -27 0.711111111111111 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGTGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 957 387 0.997864408612786 0.991737444290889 0.994800926451837 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0324094842711624 0.000908628378380683 0.997219870133411 0.978141870127066 NA 0.0166590563247715 NA FALSE NA 1 3.065 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 COSM4063541 1 NA CGC G,A 8.243e-06 16:88891908 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 missense_variant 6.826099 0.9792 0.9409 0.67177 0.99699203433207 0 0.454440081718265 FALSE NA ENSE00000946068_014 ENSE00000946068 014 16 88958255 88958424 - 35 90 45 C T 88958317 3360 108 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTACGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891908 88891909 88891909 exon -28 0.7 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTACGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 1143 3020 0.999675506580922 0.971995203363706 0.985835354972314 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0342205822392981 -0.018833612548802 0.997219870133411 0.978141870127066 NA 0.00769348484524807 NA FALSE NA 1 2.052 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA GCA C,T 3.297e-05 16:88891909 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 synonymous_variant 1.817499 0.98419 0.94441 0.67177 0.919795714952412 0 0.454440081718265 FALSE 2.85e-05 ENSE00000946068_015 ENSE00000946068 015 16 88958255 88958424 - 35 90 45 G C 88958323 3361 102 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTGCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891914 88891915 88891915 exon -34 0.633333333333333 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTGCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 15 26 1 0.989426844880495 0.994713422440247 445 244 0.997315571605864 1 0.998657785802932 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 0.00324073389544188 -0.00825362928176876 0.0318606472642404 0.00917118408749173 0.997219870133411 0.978141870127066 -0.00250644769316344 0.0205159156758661 0.0230223633690295 FALSE FALSE 1 2.589 rs147221198 downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs147221198 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0.0002 C:0.0006 GGA G,C 0.0002802 16:88891915 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 missense_variant 2.882121 0.96867 0.95578 0.67177 0.994238335190907 0 0.454440081718265 FALSE 0.000378615 ENSE00000946068_016 ENSE00000946068 016 16 88958255 88958424 - 35 90 45 G C 88958330 3362 95 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCAGCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891921 88891922 88891922 exon -41 0.555555555555556 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCAGCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 401 336 0.997929194616907 0.996044573448877 0.996986884032892 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0324742702752838 0.00521575753636894 0.997219870133411 0.978141870127066 NA 0.0188450139058264 NA FALSE NA 1 8.927 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs201538710 1 NA GGT G,C 8.242e-05 16:88891922 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 missense_variant 6.040971 0.99394 0.99437 0.67177 0.995448155363678 0 0.454440081718265 FALSE 0.000187258 ENSE00000946068_017 ENSE00000946068 017 16 88958255 88958424 - 35 90 45 C T 88958334 3363 91 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGACCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891925 88891926 88891926 exon -45 0.511111111111111 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGACCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 390 2637 0.993652445658779 0.999385284219704 0.996518864939241 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0281975213171549 0.00855646830719559 0.997219870133411 0.978141870127066 NA 0.0183769948121753 NA FALSE NA 1 7.061 rs140495720 downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs140495720 1 NA T:0 T:0.0002 GCC C,T 1.648e-05 16:88891926 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 missense_variant 7.008175 0.99364 0.98943 0.67177 0.999260894138105 0 0.454440081718265 FALSE 2.44244e-05 ENSE00000946068_018 ENSE00000946068 018 16 88958255 88958424 - 35 90 45 C T 88958335 3364 90 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAAGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891926 88891927 88891927 exon 45 0.5 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAAGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 545 248 0.998556394842352 1 0.999278197421176 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.033101470500728 0.00917118408749173 0.997219870133411 0.978141870127066 NA 0.0211363272941099 NA FALSE NA 0.991 0.437 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA CCT C,T 8.242e-06 16:88891927 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 synonymous_variant 2.007888 0.96286 0.79134 0.67177 0.905666614755022 0 0.454440081718265 FALSE 4.07077e-06 ENSE00000946068_020 ENSE00000946068 020 16 88958255 88958424 - 35 90 45 G C 88958348 3366 77 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTGCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891939 88891940 88891940 exon 32 0.355555555555556 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTGCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 540 257 0.998851208014161 1 0.999425604007081 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0333962836725378 0.00917118408749173 0.997219870133411 0.978141870127066 NA 0.0212837338800148 NA FALSE NA 1 4.906 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA GGA G,C 8.242e-06 16:88891940 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 missense_variant 0.692683 0.9858 0.97623 0.67177 0.819499366453099 0 0.454440081718265 FALSE 4.07133e-06 ENSE00000946068_021 ENSE00000946068 021 16 88958255 88958424 - 35 90 45 C T 88958361 3367 64 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCAAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891952 88891953 88891953 exon 19 0.211111111111111 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCAAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 586 993 0.849636449161102 0.998413026471718 0.92402473781641 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA -0.115818475180522 0.0075842105592101 0.997219870133411 0.978141870127066 NA -0.0541171323106557 NA FALSE NA 1 7.061 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs376580768&COSM2922704 1 NA T:0 T:0.0001 TCG C,T 8.243e-06 16:88891953 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 missense_variant 7.196357 0.99492 0.99695 0.67177 0.998768030711424 0 0.454440081718265 FALSE 4.07498e-06 ENSE00000946068_022 ENSE00000946068 022 16 88958255 88958424 - 35 90 45 G A 88958362 3368 63 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATTGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891953 88891954 88891954 exon 18 0.2 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATTGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 49 24 0.999831327162742 0.999780515845608 0.999805921504175 1193 648 0.89020049892014 0.999114160953275 0.944657329936707 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 0.00307206105818403 0.00210004168334466 -0.0752544254214835 0.00828534504076639 0.997219870133411 0.978141870127066 0.00258605137076434 -0.0334845401903586 0.0360705915611229 FALSE FALSE 0 -3.052 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs201600759 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGA G,A 0.0003544 16:88891954 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 synonymous_variant 1.615493 0.95788 0.06896 0.67177 0.865645037198057 0 0.454440081718265 FALSE 0.000325996 ENSE00000946068_023 ENSE00000946068 023 16 88958255 88958424 - 35 90 45 A G 88958370 3369 55 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACACTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891961 88891962 88891962 exon 10 0.111111111111111 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACACTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 27 44 0.985540428197234 0.940165223046326 0.96285282562178 485 854 0.965737176685957 0.9991425609653 0.982439868825629 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 -0.0112188379073239 -0.0575152511159376 0.000282252344333767 0.00831374505279203 0.997219870133411 0.978141870127066 -0.0343670445116308 0.0042979986985629 0.0386650432101937 FALSE FALSE 1 4.175 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs373067822 1 NA G:0 G:0.0001 AAT G,G 1.649e-05 16:88891962 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 synonymous_variant 0.139194 0.94354 0.0309 0.67177 0.799368394455554 0 0.454440081718265 FALSE 1.63083e-05 ENSE00000946068_024 ENSE00000946068 024 16 88958255 88958424 - 35 90 45 A T 88958384 3370 41 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCAGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891975 88891976 88891976 upstr_intron -5 -0.0888888888888889 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCAGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 15 23 1 0.97247993920173 0.986239969600865 760 555 0.991023347618795 0.99812682814835 0.994575087883572 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 0.00324073389544188 -0.0252005349605335 0.025568423277171 0.00729801223584203 0.997219870133411 0.978141870127066 -0.0109799005325458 0.0164332177565065 0.0274131182890524 FALSE FALSE 0 -0.471 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA CAG A,T 8.246e-06 16:88891976 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 splice_region_variant 0.193339 0.42145 0.10235 0.069865 0.864987754345206 0.196681 0.454440081718265 FALSE 4.0949e-06 ENSE00000946068_025 ENSE00000946068 025 16 88958255 88958424 - 35 90 45 G A 88958386 3371 39 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCTCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891977 88891978 88891978 upstr_intron -7 -0.133333333333333 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCTCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 29 803 1 0.999231388112369 0.999615694056184 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0345450756583764 0.00840257219986063 0.997219870133411 0.978141870127066 NA 0.0214738239291185 NA FALSE NA 0.079 2.101 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA GGG G,A 8.246e-06 16:88891978 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 splice_region_variant 0.254952 0.32276 0.21452 0.067858 0.87260585703432 0.192682 0.454440081718265 FALSE 4.09665e-06 ENSE00000946068_026 ENSE00000946068 026 16 88958255 88958424 - 35 90 45 G A 88958387 3372 38 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCTCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891978 88891979 88891979 upstr_intron -8 -0.155555555555556 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCTCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 135 564 1 1 1 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0345450756583764 0.00917118408749173 0.997219870133411 0.978141870127066 NA 0.0218581298729341 NA FALSE NA 0.059 0.638 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA GGG G,A 8.246e-06 16:88891979 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 splice_region_variant -0.164649 0.16849 0.04017 0.067858 0.876231650069598 0.0698953 0.454440081718265 FALSE 4.09772e-06 ENSE00000946068_027 ENSE00000946068 027 16 88958255 88958424 - 35 90 45 G A 88958388 3373 37 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTTCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891979 88891980 88891980 upstr_intron -9 -0.177777777777778 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTTCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 1453 609 0.999090119981254 0.875230345480123 0.937160232730688 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0336351956396302 -0.115598470432385 0.997219870133411 0.978141870127066 NA -0.0409816373963775 NA FALSE NA 0.034 0.328 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:88891980 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant 0.064631 0.14664 0.09377 0.067858 0.871593265226168 0.0698953 0.454440081718265 FALSE 9.42739e-05 ENSE00000946068_028 ENSE00000946068 028 16 88958255 88958424 - 35 90 45 G T 88958388 3374 37 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTACCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891979 88891980 88891980 upstr_intron -9 -0.177777777777778 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTACCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 464 303 0.999109681498186 0.906240210546467 0.952674946022326 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.033654757156562 -0.0845886053660416 0.997219870133411 0.978141870127066 NA -0.0254669241047398 NA FALSE NA 0.034 0.328 NA NA NA CBFA2T3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CBFA2T3 NA NA NA ENSG00000129993 ENSE00000946068 intron_variant -0.124548 0.16475 0.24455 0.067858 0.821463696505404 0.0698953 0.454440081718265 FALSE 4.09886e-06 ENSE00000946068_029 ENSE00000946068 029 16 88958255 88958424 - 35 90 45 A G 88958392 3375 33 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTCTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891983 88891984 88891984 upstr_intron -13 -0.266666666666667 ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTCTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 28 13 1 1 1 726 644 1 1 1 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 0.00324073389544188 0.00231952583773654 0.0345450756583764 0.00917118408749173 0.997219870133411 0.978141870127066 0.00278012986658921 0.0218581298729341 0.0190780000063449 FALSE FALSE 0 0.697 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA AAA A,G 8.247e-06 16:88891984 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant 0.02488 0.20705 0.14147 0.067858 0.386317682129939 0.0455939 0.454440081718265 FALSE 2.87392e-05 ENSE00000946068_030 ENSE00000946068 030 16 88958255 88958424 - 35 90 45 C T 88958402 3376 23 ACATGCCGAGCGGTGCTGATGTAAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891993 88891994 88891994 upstr_intron -23 -0.488888888888889 ACATGCCGAGCGGTGCTGATGTAAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 899 381 0.955547353483598 0.999584675901084 0.977566014692341 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA -0.00990757085802596 0.00875585998857542 0.997219870133411 0.978141870127066 NA -0.00057585543472527 NA FALSE NA 0 -2.913 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA TCA C,T 1.65e-05 16:88891994 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant -0.083962 0.15897 0.00539 0.067858 0.580020959305071 0.0455939 0.454440081718265 FALSE 8.28864e-06 ENSE00000946068_031 ENSE00000946068 031 16 88958255 88958424 - 35 90 45 C T 88958404 3377 21 ACATGCCGAGCGGTGCTGATATGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891995 88891996 88891996 upstr_intron -25 -0.533333333333333 ACATGCCGAGCGGTGCTGATATGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 593 203 0.993211734056157 0.98065887846927 0.986935306262714 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0277568097145333 -0.0101699374432379 0.997219870133411 0.978141870127066 NA 0.0087934361356477 NA FALSE NA 0 -3.355 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA ACA C,T 2.475e-05 16:88891996 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant -0.084115 0.1166 0.01016 0.067858 0.601099058007137 0.0448725 0.454440081718265 FALSE 2.48992e-05 ENSE00000946068_032 ENSE00000946068 032 16 88958255 88958424 - 35 90 45 T C 88958406 3378 19 ACATGCCGAGCGGTGCTGGTGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891997 88891998 88891998 upstr_intron -27 -0.577777777777778 ACATGCCGAGCGGTGCTGGTGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 394 1057 0.963786245731554 0.956542502953969 0.960164374342761 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA -0.00166867861006981 -0.034286312958539 0.997219870133411 0.978141870127066 NA -0.0179774957843044 NA FALSE NA 0 0.019 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 1 NA ATC T,C 4.126e-05 16:88891998 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant -0.408188 0.19989 0.02855 0.067858 0.165028100279753 0.0448725 0.454440081718265 FALSE 4.60297e-05 ENSE00000946068_033 ENSE00000946068 033 16 88958255 88958424 - 35 90 45 A G 88958408 3379 17 ACATGCCGAGCGGTGCCGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88891999 88892000 88892000 upstr_intron -29 -0.622222222222222 ACATGCCGAGCGGTGCCGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant NA NA NA NA NA 1674 1219 0.995820739460387 0.998986136747783 0.997403438104085 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 NA NA 0.0303658151187636 0.00815732083527432 0.997219870133411 0.978141870127066 NA 0.0192615679770189 NA FALSE NA 0 -1.267 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs200977084 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 G:0.0009 G:0.0001 CAG A,G 9.076e-05 16:88892000 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant -0.320344 0.18525 0.04548 0.067858 0.155298561270314 0.0448725 0.454440081718265 FALSE 6.27075e-05 ENSE00000946068_035 ENSE00000946068 035 16 88958255 88958424 - 35 90 45 C T 88958413 3381 12 ACATGCCGAGCAGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 88892004 88892005 88892005 upstr_intron -34 -0.733333333333333 ACATGCCGAGCAGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC mutant 50 22 0.984628754935992 0.999759646087333 0.992194200511662 114 468 0.936761693105152 0.999755673008033 0.968258683056593 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 -0.0121305111685661 0.00207917192506946 -0.0286932312364713 0.00892685709552477 0.997219870133411 0.978141870127066 -0.00502566962174833 -0.00988318707047325 0.00485751744872492 FALSE FALSE 0 -0.058 . downstream_gene_variant MODIFIER CBFA2T3 HGNC 1537 ENST00000563640 rs367768900 1 NA CCG C,T 1.65e-05 16:88892005 CBFA2T3 HGNC Symbol protein_coding 102346 ENSG00000129993 ENSE00000946068 intron_variant -0.193975 0.15098 0.01759 0.067858 0.589528418646382 0.0448725 0.454440081718265 FALSE 8.48328e-06 ENSE00000946068_BRK ENSE00000946068 BRK 16 88958255 88958424 - 35 90 45 A,G; T,T NA NA NA ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCTTAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGCCAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC 88891846 88892016 NA NA NA NA NA NA ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCTTAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGCCAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC ACATGCCGAGCGGTGCTGATGTGAGGTGGGTTTTCTCCCCTGCAGAACTCGACATTGACGATCGAGGAGTTTCATTCCAAGCTTCAGGAGGCCACCAACTTCCCTCTGCGGCCGTTTGTCATTCCCTTCCTGAAGGTAATGCGAAACCCGTCCCCCGTGCTGCGGGAGCC control 652 142 0 0.00458645486490496 0.00229322743245248 176 281 0.162167357552235 0 0.0810836787761175 0.996759266104558 0.997680474162263 0.965454924341624 0.990828815912508 -0.996759266104558 -0.993094019297359 -0.803287566789389 -0.990828815912508 0.997219870133411 0.978141870127066 -0.994926642700958 -0.897058191350948 0.0978684513500099 TRUE TRUE NA NA NA NA NA CBFA2T3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CBFA2T3 NA NA NA ENSG00000129993 ENSE00000946068 NA NA NA NA NA NA NA 0.454440081718265 FALSE NA ENSE00000946246_000 ENSE00000946246 000 17 17948401 17948570 + 60 60 50 NA NA NA NA NA CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 NA NA NA NA NA NA CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC natural 55 38 0.997278059503701 0.991806361246123 0.994542210374912 2161 3043 0.987454655806788 0.828135508944751 0.90779508237577 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 0 0 0 0 0.994542210374912 0.90779508237577 0 0 0 FALSE FALSE NA NA NA NA NA GID4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GID4 NA NA NA ENSG00000141034 ENSE00000946246 NA NA NA NA NA NA NA 0.937456357393192 TRUE NA ENSE00000946246_001 ENSE00000946246 001 17 17948401 17948570 + 60 60 50 C T 17948411 883 11 CCTGCATGTCTCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045096 18045097 18045097 upstr_intron -50 -0.816666666666667 CCTGCATGTCTCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 579 261 1 0.999393569083216 0.999696784541608 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0125453441932118 0.171258060138465 0.994542210374912 0.90779508237577 NA 0.0919017021658385 NA FALSE NA 0 -0.482 . intron_variant MODIFIER GID4 HGNC 28453 ENST00000268719 1/5 1 NA CCC C,T 1.647e-05 17:18045097 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.120018 0.12643 0.011 0.062308 0.67548174398112 0.0433171 0.937456357393192 TRUE 1.26136e-05 ENSE00000946246_003 ENSE00000946246 003 17 17948401 17948570 + 60 60 50 A G 17948424 885 24 CCTGCATGTCCCCTAGTAAGTTTGTCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045109 18045110 18045110 upstr_intron -37 -0.6 CCTGCATGTCCCCTAGTAAGTTTGTCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 431 710 1 0.99831421669373 0.999157108346865 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0125453441932118 0.170178707748978 0.994542210374912 0.90779508237577 NA 0.0913620259710951 NA FALSE NA 0 -0.09 . intron_variant MODIFIER GID4 HGNC 28453 ENST00000268719 1/5 1 NA TAT A,G 8.236e-06 17:18045110 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.226147 0.15406 0.00503 0.062308 0.581831262436517 0.0573261 0.937456357393192 TRUE 1.24162e-05 ENSE00000946246_004 ENSE00000946246 004 17 17948401 17948570 + 60 60 50 T C 17948425 886 25 CCTGCATGTCCCCTAGTAAGTTTACCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045110 18045111 18045111 upstr_intron -36 -0.583333333333333 CCTGCATGTCCCCTAGTAAGTTTACCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 197 17 1 0.990581033958412 0.995290516979206 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0125453441932118 0.162445525013661 0.994542210374912 0.90779508237577 NA 0.0874954346034363 NA FALSE NA 0.001 0.065 . intron_variant MODIFIER GID4 HGNC 28453 ENST00000268719 1/5 1 NA ATC T,C 8.236e-06 17:18045111 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.183033 0.17764 0.0766 0.062308 0.630960562817617 0.0573655 0.937456357393192 TRUE 8.27048e-06 ENSE00000946246_005 ENSE00000946246 005 17 17948401 17948570 + 60 60 50 A G 17948428 887 28 CCTGCATGTCCCCTAGTAAGTTTATCTGTTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045113 18045114 18045114 upstr_intron -33 -0.533333333333333 CCTGCATGTCCCCTAGTAAGTTTATCTGTTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 96 81 1 1 1 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0125453441932118 0.171864491055249 0.994542210374912 0.90779508237577 NA 0.0922049176242303 NA FALSE NA 0 -1.344 . intron_variant MODIFIER GID4 HGNC 28453 ENST00000268719 1/5 1 NA TAT A,G 8.236e-06 17:18045114 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.372835 0.16737 0.01117 0.062308 0.643030090715422 0.0573655 0.937456357393192 TRUE 4.11357e-06 ENSE00000946246_006 ENSE00000946246 006 17 17948401 17948570 + 60 60 50 C T 17948436 888 36 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGATAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045121 18045122 18045122 upstr_intron -25 -0.4 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGATAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 275 267 1 0.999407207432346 0.999703603716173 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0125453441932118 0.171271698487595 0.994542210374912 0.90779508237577 NA 0.0919085213404033 NA FALSE NA 0.001 -0.901 . intron_variant MODIFIER GID4 HGNC 28453 ENST00000268719 1/5 1 NA ACA C,T 8.236e-06 17:18045122 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.41665 0.23222 0.02533 0.062308 0.675773774642099 0.0573655 0.937456357393192 TRUE 4.09601e-06 ENSE00000946246_007 ENSE00000946246 007 17 17948401 17948570 + 60 60 50 G A 17948442 889 42 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTATGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045127 18045128 18045128 upstr_intron -19 -0.3 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTATGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 84 145 1 0.999737107272492 0.999868553636246 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0125453441932118 0.17160159832774 0.994542210374912 0.90779508237577 NA 0.092073471260476 NA FALSE NA 0.014 0.166 . intron_variant MODIFIER GID4 HGNC 28453 ENST00000268719 1/5 1 NA TGT G,A 8.236e-06 17:18045128 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.007605 0.3045 0.19347 0.162113 0.461928603060774 0.113977 0.937456357393192 TRUE 4.07681e-06 ENSE00000946246_008 ENSE00000946246 008 17 17948401 17948570 + 60 60 50 T C 17948447 890 47 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTACCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045132 18045133 18045133 upstr_intron -14 -0.216666666666667 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTACCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 15 76 0.8 1 0.9 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA -0.187454655806788 0.171864491055249 0.994542210374912 0.90779508237577 NA -0.0077950823757697 NA FALSE NA 0.002 0.401 . intron_variant MODIFIER GID4 HGNC 28453 ENST00000268719 1/5 rs201766570 1 NA C:0 C:0.0003 ATC T,C 0.000173 17:18045133 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.360209 0.27482 0.13874 0.162113 0.620014553321955 0.258898 0.937456357393192 TRUE 0.000150651 ENSE00000946246_010 ENSE00000946246 010 17 17948401 17948570 + 60 60 50 A G 17948462 892 62 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCGCGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045147 18045148 18045148 exon 2 0.0333333333333333 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCGCGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 1213 320 0.996242228935454 1 0.998121114467727 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.00878757312866552 0.171864491055249 0.994542210374912 0.90779508237577 NA 0.0903260320919571 NA FALSE NA 1 8.826 . missense_variant&splice_region_variant MODERATE GID4 HGNC 28453 ENST00000268719 2/6 1 deleterious(0.01) benign(0.356) NA CAC A,G 8.236e-06 17:18045148 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 missense_variant 3.380228 0.99455 0.99508 0.706298 0.997988457057105 0 0.937456357393192 TRUE 4.06501e-06 ENSE00000946246_016 ENSE00000946246 016 17 17948401 17948570 + 60 60 50 G A 17948472 898 72 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACAGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045157 18045158 18045158 exon 12 0.2 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACAGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 171 467 0.970011864220115 0.982679249601399 0.976345556910757 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA -0.0174427915866727 0.154543740656648 0.994542210374912 0.90779508237577 NA 0.0685504745349876 NA FALSE NA 0.967 0.006 . synonymous_variant LOW GID4 HGNC 28453 ENST00000268719 2/6 1 NA CGG G,A 8.236e-06 17:18045158 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 synonymous_variant 1.437818 0.9675 0.82129 0.706298 0.731796817072341 0 0.937456357393192 TRUE 8.12579e-06 ENSE00000946246_017 ENSE00000946246 017 17 17948401 17948570 + 60 60 50 G A 17948475 899 75 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGAAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045160 18045161 18045161 exon 15 0.25 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGAAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 77 996 1 1 1 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0125453441932118 0.171864491055249 0.994542210374912 0.90779508237577 NA 0.0922049176242303 NA FALSE NA 1 1.54 rs2955355 synonymous_variant LOW GID4 HGNC 28453 ENST00000268719 2/6 rs2955355&COSM4129639 1 A:0.3660 A:0.4327 A:0.4625 NA A:0.0952 A:0.6233 A:0.2219 A:0.4632 A:0.6659 GGA G,A 0.523 17:18045161 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 synonymous_variant 0.671702 0.98009 0.89783 0.706298 0.642693290205802 0 0.937456357393192 TRUE 0.521141 ENSE00000946246_018 ENSE00000946246 018 17 17948401 17948570 + 60 60 50 C T 17948484 900 84 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTATCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045169 18045170 18045170 exon 24 0.4 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTATCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 6169 342 0.998395844456156 0.993650300699119 0.996023072577638 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0109411886493677 0.165514791754368 0.994542210374912 0.90779508237577 NA 0.0882279902018678 NA FALSE NA 1 0.666 . synonymous_variant LOW GID4 HGNC 28453 ENST00000268719 2/6 1 NA ACC C,T 1.647e-05 17:18045170 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 synonymous_variant 1.056464 0.97543 0.8468 0.706298 0.485628614245153 0 0.937456357393192 TRUE 4.06217e-06 ENSE00000946246_020 ENSE00000946246 020 17 17948401 17948570 + 60 60 50 T A 17948530 902 130 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTAGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045215 18045216 18045216 downstr_intron 10 1.20408163265306 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTAGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 215 52 1 1 1 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0125453441932118 0.171864491055249 0.994542210374912 0.90779508237577 NA 0.0922049176242303 NA FALSE NA 0 0.243 . intron_variant MODIFIER GID4 HGNC 28453 ENST00000268719 2/5 1 NA TTG T,A 0.0001565 17:18045216 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.391561 0.22229 0.09105 0.099367 0.659584633889442 0.102563 0.937456357393192 TRUE 0.000130195 ENSE00000946246_021 ENSE00000946246 021 17 17948401 17948570 + 60 60 50 C T 17948542 903 142 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAATCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045227 18045228 18045228 downstr_intron 22 1.44897959183673 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAATCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant 19 19 0.911106169506938 0.809723865969263 0.860415017738101 NA NA NA NA NA 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 -0.0861718899967626 -0.18208249527686 NA NA 0.994542210374912 0.90779508237577 -0.134127192636811 NA NA NA FALSE 0 -1.122 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:18045228 GID4 HGNC Symbol protein_coding 29112 ENSG00000141034 ENSE00000946246 intron_variant 0.13521 0.24762 0.05616 0.062308 0.383033680146429 0.0498755 0.937456357393192 TRUE 4.08113e-06 ENSE00000946246_022 ENSE00000946246 022 17 17948401 17948570 + 60 60 50 C G 17948542 904 142 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAAGCAGCACTAGAAAGTCTGTGGTGTGCTCC 18045086 18045256 18045227 18045228 18045228 downstr_intron 22 1.44897959183673 CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAAGCAGCACTAGAAAGTCTGTGGTGTGCTCC CCTGCATGTCCCCTAGTAAGTTTATCTATTTGTGACAGGCTGTGTATCCTTTCTTTTCAGCACGTGGACACGGGGAACTCTTACCTTTGTGGGTACTTGAAGATTAAAGGCCTTACTGAGGTAAGCACTTGCTCACACAAACCAGCACTAGAAAGTCTGTGGTGTGCTCC mutant NA NA NA NA NA 209 68 0.998414014687401 1 0.999207007343701 0.997278059503701 0.991806361246123 0.987454655806788 0.828135508944751 NA NA 0.0109593588806132 0.171864491055249 0.994542210374912 0.90779508237577 NA 0.0914119249679309 NA FALSE NA 0 -1.122 NA NA NA GID4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GID4 NA NA NA ENSG00000141034 ENSE00000946246 intron_variant 0.110731 0.25031 0.07887 0.062308 0.331315620243699 0.0498755 0.937456357393192 TRUE 4.08113e-06 ENSE00000946366_000 ENSE00000946366 000 17 8808941 8809110 - 45 69 56 NA NA NA NA NA CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 NA NA NA NA NA NA CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG natural 17 20 0.999495116955634 0.992284621347791 0.995889869151713 752 872 0.995446183058256 0.985005247017929 0.990225715038092 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 0 0 0 0 0.995889869151713 0.990225715038092 0 0 0 FALSE FALSE NA NA NA NA NA PIK3R5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIK3R5 NA NA NA ENSG00000141506 ENSE00003687716 NA NA NA NA NA NA NA 0.817693684157708 FALSE NA ENSE00000946366_002 ENSE00000946366 002 17 8808941 8809110 - 45 69 56 C T 8808966 580 145 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGAATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905648 8905649 8905649 downstr_intron 20 1.45454545454545 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGAATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 130 482 0.998084980742486 0.996637803664586 0.997361392203536 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00263879768422992 0.0116325566466574 0.995889869151713 0.990225715038092 NA 0.00713567716544367 NA FALSE NA 0.001 0.684 rs113379742 downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 rs113379742 1 T:0.0040 T:0 T:0.0072 NA T:0.001 T:0.0119 T:0.002 T:0.0034 T:0.0118 TCC C,T 0.008051 17:8905649 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 intron_variant 0.675295 0.26255 0.09901 0.298561 0.657868519722679 0.090589 0.817693684157708 FALSE 0.00996643 ENSE00000946366_005 ENSE00000946366 005 17 8808941 8809110 - 45 69 56 C T 8808975 583 136 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACATGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905657 8905658 8905658 downstr_intron 11 1.25 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACATGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 56 39 0.997022856365002 0.995922957245705 0.996472906805353 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00157667330674616 0.0109177102277762 0.995889869151713 0.990225715038092 NA 0.00624719176726118 NA FALSE NA 0 -1.017 . downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 rs201192024 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 2.479e-05 17:8905658 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 intron_variant 0.674677 0.18193 0.02737 0.298561 0.815747017202946 0.201937 0.817693684157708 FALSE 1.92931e-05 ENSE00000946366_006 ENSE00000946366 006 17 8808941 8809110 - 45 69 56 G A 8808976 584 135 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCATGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905658 8905659 8905659 downstr_intron 10 1.22727272727273 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCATGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 323 35 1 1 1 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00977428496190791 NA FALSE NA 0 -1.427 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:8905659 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 intron_variant 0.854821 0.24883 0.03715 0.298561 0.831237857523162 0.201937 0.817693684157708 FALSE NA ENSE00000946366_007 ENSE00000946366 007 17 8808941 8809110 - 45 69 56 G T 8808976 585 135 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCAAGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905658 8905659 8905659 downstr_intron 10 1.22727272727273 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCAAGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 11 16 1 1 1 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00977428496190791 NA FALSE NA 0 -1.427 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIK3R5 NA NA NA ENSG00000141506 ENSE00003687716 intron_variant 0.557414 0.23109 0.03026 0.298561 0.826509472604751 0.201937 0.817693684157708 FALSE NA ENSE00000946366_008 ENSE00000946366 008 17 8808941 8809110 - 45 69 56 C T 8808994 586 117 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTATTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905676 8905677 8905677 exon -9 0.884057971014493 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTATTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 17 120 1 1 1 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00977428496190791 NA FALSE NA 0.992 3.279 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:8905677 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 missense_variant 3.181561 0.95236 0.83294 0.645754 0.976802205451113 0 0.817693684157708 FALSE 4.39564e-06 ENSE00000946366_009 ENSE00000946366 009 17 8808941 8809110 - 45 69 56 C G 8808994 587 117 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTCTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905676 8905677 8905677 exon -9 0.884057971014493 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTCTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 192 45 1 0.9190730845913 0.95953654229565 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 -0.0659321624266289 0.995889869151713 0.990225715038092 NA -0.0306891727424423 NA FALSE NA 0.992 3.279 NA NA NA PIK3R5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIK3R5 NA NA NA ENSG00000141506 ENSE00003687716 missense_variant 2.316541 0.95399 0.84976 0.645754 0.98123317208828 0 0.817693684157708 FALSE 8.79129e-06 ENSE00000946366_010 ENSE00000946366 010 17 8808941 8809110 - 45 69 56 A G 8808995 588 116 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACCGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905677 8905678 8905678 exon -10 0.869565217391304 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACCGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 14 57 1 1 1 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00977428496190791 NA FALSE NA 0.001 -2.182 . downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 1 NA CAG A,G 1.649e-05 17:8905678 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 synonymous_variant -0.207923 0.70117 0.07244 0.645754 0.607689961863168 0 0.817693684157708 FALSE 1.31567e-05 ENSE00000946366_012 ENSE00000946366 012 17 8808941 8809110 - 45 69 56 C T 8809019 590 92 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCACTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905701 8905702 8905702 exon -34 0.521739130434783 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCACTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 102 57 1 1 1 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00977428496190791 NA FALSE NA 0 -3.414 rs147931237 downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 rs147931237 1 NA T:0 T:0.0001 GCG T,T 5.771e-05 17:8905702 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 synonymous_variant 0.581765 0.12741 0.01825 0.645754 0.539519855949622 0 0.817693684157708 FALSE NA ENSE00000946366_013 ENSE00000946366 013 17 8808941 8809110 - 45 69 56 T C 8809024 591 87 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCGCCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905706 8905707 8905707 exon 31 0.449275362318841 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCGCCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 83 203 1 0.998485978367697 0.999242989183849 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0134807313497687 0.995889869151713 0.990225715038092 NA 0.00901727414575654 NA FALSE NA 0 -0.471 . downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 rs200972871 1 NA GTG T,C 1.649e-05 17:8905707 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 missense_variant -2.383898 0.19872 0.02841 0.645754 0.412172668794748 0 0.817693684157708 FALSE NA ENSE00000946366_014 ENSE00000946366 014 17 8808941 8809110 - 45 69 56 G A 8809025 592 86 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTTACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905707 8905708 8905708 exon 30 0.434782608695652 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTTACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 191 185 0.967316777822574 1 0.983658388911287 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA -0.0281294052356819 0.0149947529820714 0.995889869151713 0.990225715038092 NA -0.00656732612680522 NA FALSE NA 0 -1.371 rs61753147 downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 rs61753147&COSM3756063 1 A:0.0230 A:0.0038 A:0.0043 NA A:0.001 A:0.0507 A:0.0562 A:0.0084 A:0.0562 TGA G,A 0.039 17:8905708 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 synonymous_variant -0.239347 0.12805 0.04469 0.645754 0.460551230255927 0 0.817693684157708 FALSE 0.040821 ENSE00000946366_015 ENSE00000946366 015 17 8808941 8809110 - 45 69 56 G A 8809034 593 77 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTATGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905716 8905717 8905717 exon 21 0.304347826086957 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTATGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 11 23 1 1 1 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00977428496190791 NA FALSE NA 0.94 -0.2 . downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 1 NA CGT G,A 4.124e-05 17:8905717 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 synonymous_variant -0.125093 0.86697 0.23238 0.645754 0.382203365030104 0 0.817693684157708 FALSE 5.24553e-05 ENSE00000946366_016 ENSE00000946366 016 17 8808941 8809110 - 45 69 56 C T 8809046 594 65 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAAAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905728 8905729 8905729 exon 9 0.130434782608696 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAAAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 167 312 0.998511980863007 0.993224111797546 0.995868046330276 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00306579780475102 0.00821886477961764 0.995889869151713 0.990225715038092 NA 0.00564233129218433 NA FALSE NA 0.989 0.216 . downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 1 NA TCT C,T 1.651e-05 17:8905729 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 synonymous_variant 1.82651 0.91015 0.5853 0.645754 0.635070339504409 0 0.817693684157708 FALSE 1.35285e-05 ENSE00000946366_018 ENSE00000946366 018 17 8808941 8809110 - 45 69 56 G A 8809075 596 36 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCTCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905757 8905758 8905758 upstr_intron -21 -0.357142857142857 CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCTCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 15 65 1 1 1 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00977428496190791 NA FALSE NA 0 -0.404 rs92535 downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 rs92535 1 A:0.2031 A:0.2837 A:0.1009 NA A:0.2381 A:0.1103 A:0.226 A:0.2324 A:0.12 GGG G,A 0.142 17:8905758 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 intron_variant 0.027257 0.17923 0.00434 0.121938 0.437715023088886 0.0481801 0.817693684157708 FALSE 0.158716 ENSE00000946366_021 ENSE00000946366 021 17 8808941 8809110 - 45 69 56 C T 8809092 599 19 CAGGGAGCCCTGGACCCCATGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905774 8905775 8905775 upstr_intron -38 -0.660714285714286 CAGGGAGCCCTGGACCCCATGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 11 167 0.992268880807797 1 0.996134440403898 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA -0.00317730225045909 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00590872536580617 NA FALSE NA 0.033 0.448 . downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 rs369319112 1 NA T:0 T:0.0001 ACG C,T 1.663e-05 17:8905775 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 intron_variant 0.053464 0.16007 0.01707 0.121938 0.636101285174287 0.0481801 0.817693684157708 FALSE 3.66444e-05 ENSE00000946366_022 ENSE00000946366 022 17 8808941 8809110 - 45 69 56 G A 8809093 600 18 CAGGGAGCCCTGGACCCTGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG 8905623 8905793 8905775 8905776 8905776 upstr_intron -39 -0.678571428571429 CAGGGAGCCCTGGACCCTGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG CAGGGAGCCCTGGACCCCGTGAATGAGGCTCATTCCCCTTCTCCTCCTCTCCACAGGTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCGCTGGCCCTGCTCTTCTATTCCACTGTTCTTTGTGTAAGTCCACGTGGGCCAGGATGCTGGAGGTGAGGGAGGAGGGGG mutant NA NA NA NA NA 144 188 1 1 1 0.999495116955634 0.992284621347791 0.995446183058256 0.985005247017929 NA NA 0.00455381694174439 0.0149947529820714 0.995889869151713 0.990225715038092 NA 0.00977428496190791 NA FALSE NA 0.037 -0.178 . downstream_gene_variant MODIFIER PIK3R5 HGNC 30035 ENST00000581895 1 NA CGG G,A 2.497e-05 17:8905776 PIK3R5 HGNC Symbol protein_coding 86801 ENSG00000141506 ENSE00003687716 intron_variant -0.153007 0.08599 0.0056 0.121938 0.705907328679217 0.0481801 0.817693684157708 FALSE 1.85775e-05 ENSE00000946643_000 ENSE00000946643 000 16 69783418 69783587 - 44 72 54 NA NA NA NA NA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 NA NA NA NA NA NA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA natural NA NA NA NA NA 533 1553 0.993898832025118 0.998982214221553 0.996440523123335 NA NA 0.993898832025118 0.998982214221553 NA NA 0 0 NA 0.996440523123335 NA 0 NA FALSE NA NA NA NA NA NA NOB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NOB1 NA NA NA ENSG00000141101 ENSE00003534992 NA NA NA NA NA NA NA 8.61136358207129e-08 FALSE NA ENSE00000946643_004 ENSE00000946643 004 16 69783418 69783587 - 44 72 54 G C 69783434 2346 154 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTGATGCTCTTTTCTGAAA 69749514 69749684 69749530 69749531 69749531 downstr_intron 28 1.65116279069767 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTGATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 46 719 1 0.997962944492979 0.99898147224649 NA NA 0.993898832025118 0.998982214221553 NA NA 0.00610116797488214 -0.00101926972857358 NA 0.996440523123335 NA 0.00254094912315428 NA FALSE NA 0 -0.485 . intron_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 3/7 1 NA TGA G,C 2.471e-05 16:69749531 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 intron_variant -0.3718 0.19893 0.14914 0.093477 0.56929854583887 0.0554603 8.61136358207129e-08 FALSE 8.32314e-06 ENSE00000946643_006 ENSE00000946643 006 16 69783418 69783587 - 44 72 54 G A 69783438 2348 150 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCTGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749534 69749535 69749535 downstr_intron 24 1.55813953488372 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCTGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 177 32 1 1 1 NA NA 0.993898832025118 0.998982214221553 NA NA 0.00610116797488214 0.00101778577844702 NA 0.996440523123335 NA 0.00355947687666458 NA FALSE NA 0.001 0.353 . intron_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 3/7 rs200914887 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 A:0 A:0.0001 CGG G,A 0.0001153 16:69749535 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 intron_variant 0.048211 0.13965 0.02325 0.093477 0.597229916984476 0.0554603 8.61136358207129e-08 FALSE 7.04494e-05 ENSE00000946643_015 ENSE00000946643 015 16 69783418 69783587 - 44 72 54 A G 69783486 2357 102 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATCTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749582 69749583 69749583 exon -25 0.666666666666667 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATCTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 164 24 1 1 1 NA NA 0.993898832025118 0.998982214221553 NA NA 0.00610116797488214 0.00101778577844702 NA 0.996440523123335 NA 0.00355947687666458 NA FALSE NA 1 0.661 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 3/8 1 NA AAA A,G 8.236e-06 16:69749583 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 synonymous_variant 0.991459 0.896 0.72241 0.719381 0.778824004266468 0 8.61136358207129e-08 FALSE 4.06984e-06 ENSE00000946643_016 ENSE00000946643 016 16 69783418 69783587 - 44 72 54 T G 69783488 2358 100 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACCTTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749584 69749585 69749585 exon -27 0.638888888888889 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACCTTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 169 26 1 1 1 NA NA 0.993898832025118 0.998982214221553 NA NA 0.00610116797488214 0.00101778577844702 NA 0.996440523123335 NA 0.00355947687666458 NA FALSE NA 0.874 -0.074 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 3/8 1 NA ATG T,G 8.236e-06 16:69749585 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 missense_variant 2.084655 0.91298 0.76213 0.719381 0.842952314185366 0 8.61136358207129e-08 FALSE 4.07063e-06 ENSE00000946643_017 ENSE00000946643 017 16 69783418 69783587 - 44 72 54 G C 69783512 2359 76 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTGAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749608 69749609 69749609 exon 22 0.305555555555556 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTGAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant 11 14 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.993898832025118 0.998982214221553 NA NA NA NA NA 0.996440523123335 NA NA NA NA NA 0.997 4.637 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 3/8 1 NA TGA G,C 8.236e-06 16:69749609 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 missense_variant 0.942254 0.93912 0.95053 0.719381 0.331805007465393 0 8.61136358207129e-08 FALSE 4.07737e-06 ENSE00000946643_019 ENSE00000946643 019 16 69783418 69783587 - 44 72 54 C T 69783516 2361 72 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCAATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749612 69749613 69749613 exon 18 0.25 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCAATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 348 136 0.970856828597156 0.975664568684449 0.973260698640802 NA NA 0.993898832025118 0.998982214221553 NA NA -0.0230420034279623 -0.0233176455371042 NA 0.996440523123335 NA -0.0231798244825333 NA FALSE NA 0 -5.486 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 3/8 1 NA TCG C,T 2.471e-05 16:69749613 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 synonymous_variant 1.616276 0.09258 0.02796 0.719381 0.416192387531228 0 8.61136358207129e-08 FALSE 2.85885e-05 ENSE00000946643_020 ENSE00000946643 020 16 69783418 69783587 - 44 72 54 G A 69783517 2362 71 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATTGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749613 69749614 69749614 exon 17 0.236111111111111 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATTGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 272 633 0.93415875501866 0.901366376177532 0.917762565598096 NA NA 0.993898832025118 0.998982214221553 NA NA -0.0597400770064582 -0.0976158380440211 NA 0.996440523123335 NA -0.0786779575252397 NA FALSE NA 0.435 1.984 NA NA NA NOB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:69749614 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 missense_variant 2.924123 0.92881 0.71258 0.719381 0.98413577412605 0 8.61136358207129e-08 FALSE 5.71975e-05 ENSE00000946643_022 ENSE00000946643 022 16 69783418 69783587 - 44 72 54 C G 69783545 2364 43 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTCTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749641 69749642 69749642 upstr_intron -12 -0.203703703703704 CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTCTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 176 1673 1 0.999219601502035 0.999609800751017 NA NA 0.993898832025118 0.998982214221553 NA NA 0.00610116797488214 0.000237387280481949 NA 0.996440523123335 NA 0.00316927762768204 NA FALSE NA 0 -2.119 . intron_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 2/7 1 NA ACA C,G 1.647e-05 16:69749642 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 intron_variant -0.04025 0.27312 0.05844 0.099367 0.497927279722846 0.090307 8.61136358207129e-08 FALSE 9.10896e-06 ENSE00000946643_026 ENSE00000946643 026 16 69783418 69783587 - 44 72 54 C T 69783559 2368 29 CTGGATATCTTTAATTTTGATAACAAGAAGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749655 69749656 69749656 upstr_intron -26 -0.462962962962963 CTGGATATCTTTAATTTTGATAACAAGAAGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 473 465 1 1 1 NA NA 0.993898832025118 0.998982214221553 NA NA 0.00610116797488214 0.00101778577844702 NA 0.996440523123335 NA 0.00355947687666458 NA FALSE NA 0.001 0.139 . intron_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 2/7 rs562886854 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 CCT C,T 0.0003378 16:69749656 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 intron_variant 0.053483 0.26078 0.0117 0.099367 0.43283669172522 0.0491003 8.61136358207129e-08 FALSE 0.00033493 ENSE00000946643_027 ENSE00000946643 027 16 69783418 69783587 - 44 72 54 G C 69783564 2369 24 CTGGATATCTTTAATTTTGATAAGAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA 69749514 69749684 69749660 69749661 69749661 upstr_intron -31 -0.555555555555556 CTGGATATCTTTAATTTTGATAAGAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA CTGGATATCTTTAATTTTGATAACAAGAGGTATATGTTTTTTGTTTTTTTAAAGGTTAAGGTGAGCTCATCGATTCAGCACCCAGAAACACCTCTGCACATTTCTGGTTTCCATCTGCCCTACAAGGTAATTTCTTAGACAAGCCAGGCCGTTCATGCTCTTTTCTGAAA mutant NA NA NA NA NA 11 276 0.8 0.95 0.875 NA NA 0.993898832025118 0.998982214221553 NA NA -0.193898832025118 -0.048982214221553 NA 0.996440523123335 NA -0.121440523123335 NA FALSE NA 0 -0.723 . intron_variant&NMD_transcript_variant MODIFIER NOB1 HGNC 29540 ENST00000569871 2/7 rs530163613 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGT G,C 0.0001813 16:69749661 NOB1 HGNC Symbol protein_coding 13073 ENSG00000141101 ENSE00003534992 intron_variant -0.714138 0.06719 0.00707 0.099367 0.426415887548324 0.0491003 8.61136358207129e-08 FALSE 0.000142522 ENSE00000946908_000 ENSE00000946908 000 17 35557319 35557488 - 51 57 62 NA NA NA NA NA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 NA NA NA NA NA NA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA natural NA NA NA NA NA 1234 1593 0.935905209478459 0.988838031328476 0.962371620403468 NA NA 0.935905209478459 0.988838031328476 NA NA 0 0 NA 0.962371620403468 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACACA NA NA NA ENSG00000278540 ENSE00003741681 NA NA NA NA NA NA NA 0.99999999994361 TRUE NA ENSE00000946908_002 ENSE00000946908 002 17 35557319 35557488 - 51 57 62 T A 35557332 1546 157 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTTTGCTGCTGCTACA 37200375 37200545 37200388 37200389 37200389 downstr_intron 38 1.76 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTTTGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 730 261 0.978992708741785 0.988426156578339 0.983709432660062 NA NA 0.935905209478459 0.988838031328476 NA NA 0.0430874992633256 -0.000411874750136931 NA 0.962371620403468 NA 0.0213378122565943 NA FALSE NA 0 -0.041 NA NA NA ACACA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:37200389 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 intron_variant 1.143165 0.29869 0.2894 0.106106 0.79113925976188 0.242818 0.99999999994361 TRUE 6.52539e-05 ENSE00000946908_004 ENSE00000946908 004 17 35557319 35557488 - 51 57 62 T C 35557339 1548 150 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATGTTTCTTATGCTGCTGCTACA 37200375 37200545 37200395 37200396 37200396 downstr_intron 31 1.62 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATGTTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 135 214 0.995335719505455 0.999821966469975 0.997578842987715 NA NA 0.935905209478459 0.988838031328476 NA NA 0.0594305100269962 0.010983935141499 NA 0.962371620403468 NA 0.0352072225842476 NA FALSE NA 0 0.256 . intron_variant MODIFIER ACACA HGNC 84 ENST00000591119 2/22 1 NA ATA T,C 8.237e-06 17:37200396 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 intron_variant 1.34669 0.27131 0.24537 0.163922 0.739350018395892 0.17359 0.99999999994361 TRUE 4.07365e-06 ENSE00000946908_007 ENSE00000946908 007 17 35557319 35557488 - 51 57 62 C T 35557357 1551 132 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTAAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200413 37200414 37200414 downstr_intron 13 1.26 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTAAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 288 668 0.99571557635231 0.979734783140691 0.9877251797465 NA NA 0.935905209478459 0.988838031328476 NA NA 0.0598103668738506 -0.0091032481877853 NA 0.962371620403468 NA 0.0253535593430326 NA FALSE NA 0.006 0.111 . intron_variant MODIFIER ACACA HGNC 84 ENST00000591119 2/22 1 NA TCA C,T 8.237e-06 17:37200414 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 intron_variant 1.943494 0.22827 0.0398 0.106106 0.81425216927025 0.247414 0.99999999994361 TRUE 4.06669e-06 ENSE00000946908_010 ENSE00000946908 010 17 35557319 35557488 - 51 57 62 C G 35557397 1554 92 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGCCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200453 37200454 37200454 exon -28 0.526315789473684 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGCCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 742 1245 0.930886728366302 0.982453784959933 0.956670256663117 NA NA 0.935905209478459 0.988838031328476 NA NA -0.0050184811121573 -0.0063842463685434 NA 0.962371620403468 NA -0.00570136374035035 NA FALSE NA 0.021 -1.084 . synonymous_variant LOW ACACA HGNC 84 ENST00000591119 2/23 1 NA GCC C,G 8.237e-06 17:37200454 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 synonymous_variant 1.75932 0.96004 0.25924 0.732398 0.719636385633282 0 0.99999999994361 TRUE 4.06616e-06 ENSE00000946908_011 ENSE00000946908 011 17 35557319 35557488 - 51 57 62 T C 35557407 1555 82 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCGTGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200463 37200464 37200464 exon 20 0.350877192982456 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCGTGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 895 454 0.959726027237502 0.998902767305606 0.979314397271554 NA NA 0.935905209478459 0.988838031328476 NA NA 0.0238208177590434 0.0100647359771296 NA 0.962371620403468 NA 0.0169427768680865 NA FALSE NA 1 6.046 . missense_variant MODERATE ACACA HGNC 84 ENST00000591119 2/23 rs200877415 1 tolerated(1) benign(0.005) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATG T,C 0.0001483 17:37200464 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 missense_variant 1.564478 0.98683 0.98214 0.706298 0.596560234782894 0 0.99999999994361 TRUE 0.000231775 ENSE00000946908_012 ENSE00000946908 012 17 35557319 35557488 - 51 57 62 G A 35557417 1556 72 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCTTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200473 37200474 37200474 exon 10 0.175438596491228 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCTTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 106 80 1 0.992006808204523 0.996003404102261 NA NA 0.935905209478459 0.988838031328476 NA NA 0.064094790521541 0.00316877687604622 NA 0.962371620403468 NA 0.0336317836987936 NA FALSE NA 1 3.996 . synonymous_variant LOW ACACA HGNC 84 ENST00000591119 2/23 1 NA AGG G,A 1.647e-05 17:37200474 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 synonymous_variant 1.273689 0.98534 0.96746 0.706298 0.648003254884748 0 0.99999999994361 TRUE 2.84708e-05 ENSE00000946908_013 ENSE00000946908 013 17 35557319 35557488 - 51 57 62 G A 35557431 1557 58 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTTCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200487 37200488 37200488 upstr_intron -5 -0.0645161290322581 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTTCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 169 334 0.999756234434082 0.992830007058322 0.996293120746202 NA NA 0.935905209478459 0.988838031328476 NA NA 0.0638510249556226 0.00399197572984544 NA 0.962371620403468 NA 0.033921500342734 NA FALSE NA 0 0 . splice_region_variant&intron_variant LOW ACACA HGNC 84 ENST00000591119 1/22 rs200301970 1 A:0.0006 A:0 A:0.0014 NA A:0 A:0.001 A:0.001 A:0.0002 A:0.0008 GGA G,A 0.0007331 17:37200488 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 splice_region_variant 1.792095 0.54544 0.08263 0.088506 0.822070232511426 0.525465 0.99999999994361 TRUE 0.000639147 ENSE00000946908_015 ENSE00000946908 015 17 35557319 35557488 - 51 57 62 C G 35557440 1559 49 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATCTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200496 37200497 37200497 upstr_intron -14 -0.209677419354839 GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATCTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 367 370 1 1 1 NA NA 0.935905209478459 0.988838031328476 NA NA 0.064094790521541 0.0111619686715236 NA 0.962371620403468 NA 0.0376283795965323 NA FALSE NA 0.882 0.132 . intron_variant MODIFIER ACACA HGNC 84 ENST00000591119 1/22 1 NA ACA C,G 8.237e-06 17:37200497 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 intron_variant 2.083619 0.95207 0.78212 0.088506 0.801535157440267 0.50398 0.99999999994361 TRUE 4.07591e-06 ENSE00000946908_017 ENSE00000946908 017 17 35557319 35557488 - 51 57 62 T C 35557456 1561 33 GATAAAATTTAGAATGAATGGAAATCTCATCTGTCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200512 37200513 37200513 upstr_intron -30 -0.467741935483871 GATAAAATTTAGAATGAATGGAAATCTCATCTGTCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 375 181 1 1 1 NA NA 0.935905209478459 0.988838031328476 NA NA 0.064094790521541 0.0111619686715236 NA 0.962371620403468 NA 0.0376283795965323 NA FALSE NA 0 -1.042 rs191653436 intron_variant MODIFIER ACACA HGNC 84 ENST00000591119 1/22 rs191653436 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATA T,C 2.471e-05 17:37200513 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 intron_variant 0.677559 0.8933 0.14879 0.088506 0.518905169234047 0.344193 0.99999999994361 TRUE 4.92219e-05 ENSE00000946908_018 ENSE00000946908 018 17 35557319 35557488 - 51 57 62 G C 35557458 1562 31 GATAAAATTTAGAATGAATGGAAATCTCATGTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200514 37200515 37200515 upstr_intron -32 -0.5 GATAAAATTTAGAATGAATGGAAATCTCATGTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 431 221 1 1 1 NA NA 0.935905209478459 0.988838031328476 NA NA 0.064094790521541 0.0111619686715236 NA 0.962371620403468 NA 0.0376283795965323 NA FALSE NA 0.003 0.135 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:37200515 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 intron_variant 0.478929 0.94271 0.49199 0.088506 0.531619623881707 0.357442 0.99999999994361 TRUE 2.87366e-05 ENSE00000946908_019 ENSE00000946908 019 17 35557319 35557488 - 51 57 62 G A 35557458 1563 31 GATAAAATTTAGAATGAATGGAAATCTCATTTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200514 37200515 37200515 upstr_intron -32 -0.5 GATAAAATTTAGAATGAATGGAAATCTCATTTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 287 1218 0.991569412342691 0.998166928118987 0.994868170230839 NA NA 0.935905209478459 0.988838031328476 NA NA 0.0556642028642319 0.00932889679051085 NA 0.962371620403468 NA 0.0324965498273714 NA FALSE NA 0.003 0.135 NA NA NA ACACA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACACA NA NA NA ENSG00000278540 ENSE00003741681 intron_variant 0.854864 0.9334 0.38832 0.088506 0.704054568229514 0.357442 0.99999999994361 TRUE 8.21045e-06 ENSE00000946908_020 ENSE00000946908 020 17 35557319 35557488 - 51 57 62 G A 35557461 1564 28 GATAAAATTTAGAATGAATGGAAATCTTATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 37200517 37200518 37200518 upstr_intron -35 -0.548387096774194 GATAAAATTTAGAATGAATGGAAATCTTATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA mutant NA NA NA NA NA 274 33 0.999440261411014 0.969823444761227 0.98463185308612 NA NA 0.935905209478459 0.988838031328476 NA NA 0.0635350519325546 -0.0190145865672492 NA 0.962371620403468 NA 0.0222602326826527 NA FALSE NA 0.04 0.71 . intron_variant MODIFIER ACACA HGNC 84 ENST00000591119 1/22 1 NA TGA G,A 8.238e-06 17:37200518 ACACA HGNC Symbol protein_coding 321830 ENSG00000278540 ENSE00003741681 intron_variant 1.008849 0.97363 0.73287 0.088506 0.680276047699364 0.37133 0.99999999994361 TRUE 4.11435e-06 ENSE00000946908_BRK ENSE00000946908 BRK 17 35557319 35557488 - 51 57 62 A,G; T,T NA NA NA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTTTAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGCCACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA 37200375 37200545 NA NA NA NA NA NA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTTTAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGCCACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA GATAAAATTTAGAATGAATGGAAATCTCATCTATCTTCTGTTTTACATGTTTTTGCTCCTAGAAAGCTACCCTGGTTGACCATGGGATCCGGCGCCTTACTTTCCTGGTTGCACAAAAGGTACTGACATGTGAATTGTACCTCTTTAATATTTCTTATGCTGCTGCTACA control 23 23 0 0 0 536 514 0 0.000711784448563078 0.000355892224281539 NA NA 0.935905209478459 0.988838031328476 NA NA -0.935905209478459 -0.988126246879913 NA 0.962371620403468 NA -0.962015728179186 NA TRUE NA NA NA NA NA NA ACACA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACACA NA NA NA ENSG00000278540 ENSE00003741681 NA NA NA NA NA NA NA 0.99999999994361 TRUE NA ENSE00000947489_000 ENSE00000947489 000 17 45367005 45367174 + 42 96 32 NA NA NA NA NA TACATGAGACGTCATTAACCTCTACATCCTTCATTTTCCTAGGATTATCCCTCTTTGGGGCTGATGACTGAGAAGCTATCCCAGAAAAACATCAATTTGATCTTTGCAGTGACTGAAAATGTAGTCAATCTCTATCAGGTGACTGTGCCTTCGGGCTTCCTGGAGTGGGC 47289638 47289808 NA NA NA NA NA NA TACATGAGACGTCATTAACCTCTACATCCTTCATTTTCCTAGGATTATCCCTCTTTGGGGCTGATGACTGAGAAGCTATCCCAGAAAAACATCAATTTGATCTTTGCAGTGACTGAAAATGTAGTCAATCTCTATCAGGTGACTGTGCCTTCGGGCTTCCTGGAGTGGGC TACATGAGACGTCATTAACCTCTACATCCTTCATTTTCCTAGGATTATCCCTCTTTGGGGCTGATGACTGAGAAGCTATCCCAGAAAAACATCAATTTGATCTTTGCAGTGACTGAAAATGTAGTCAATCTCTATCAGGTGACTGTGCCTTCGGGCTTCCTGGAGTGGGC natural 12 44 0.85 0.775791230683192 0.812895615341596 105 102 0.968214780776392 0.994599478654437 0.981407129715414 0.85 0.775791230683192 0.968214780776392 0.994599478654437 0 0 0 0 0.812895615341596 0.981407129715414 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003599279 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00000947490_000 ENSE00000947490 000 17 45367506 45367675 + 45 90 35 NA NA NA NA NA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 NA NA NA NA NA NA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA natural 19 45 0.996107011628817 0.958768668422601 0.977437840025709 1435 1253 0.99872365483469 1 0.999361827417345 0.996107011628817 0.958768668422601 0.99872365483469 1 0 0 0 0 0.977437840025709 0.999361827417345 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003472172 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000947490_007 ENSE00000947490 007 17 45367506 45367675 + 45 90 35 T C 45367548 2297 43 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCCAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290181 47290182 47290182 upstr_intron -3 -0.0444444444444444 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCCAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 440 21 0.988005187026314 1 0.994002593513157 0.996107011628817 0.958768668422601 0.99872365483469 1 NA NA -0.0107184678083762 0 0.977437840025709 0.999361827417345 NA -0.00535923390418808 NA FALSE NA 0.995 0.883 NA NA NA ITGB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGB3 NA NA NA ENSG00000259207 ENSE00003472172 splice_region_variant 1.325627 0.96355 0.67093 0.156188 0.820323302520975 0.516539 0.141699544644917 FALSE 4.06091e-06 ENSE00000947490_BRK ENSE00000947490 BRK 17 45367506 45367675 + 45 90 35 A,G; T,T NA NA NA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTTTAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGCCAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 NA NA NA NA NA NA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTTTAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGCCAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA control NA NA NA NA NA 318 285 0 0 0 0.996107011628817 0.958768668422601 0.99872365483469 1 NA NA -0.99872365483469 -1 0.977437840025709 0.999361827417345 NA -0.999361827417345 NA TRUE NA NA NA NA NA NA ITGB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGB3 NA NA NA ENSG00000259207 ENSE00003472172 NA NA NA NA NA NA NA 0.141699544644917 FALSE NA ENSE00000947608_000 ENSE00000947608 000 17 28612373 28612542 - 33 93 44 NA NA NA NA NA GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 NA NA NA NA NA NA GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC natural 151 93 0.962723995165655 0.978413025758425 0.97056851046204 4943 6601 0.988928440585172 0.997297248997068 0.99311284479112 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 0 0 0 0 0.97056851046204 0.99311284479112 0 0 0 FALSE FALSE NA NA NA NA NA BLMH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BLMH NA NA NA ENSG00000108578 ENSE00003509332 NA NA NA NA NA NA NA 0.00956068971702177 FALSE NA ENSE00000947608_001 ENSE00000947608 001 17 28612373 28612542 - 33 93 44 C T 28612390 1266 153 GGGGTCACAAAAAAATCTAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285371 30285372 30285372 downstr_intron 16 1.5 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTAGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant 25 14 1 1 1 NA NA NA NA NA 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 0.0372760048343449 0.0215869742415751 NA NA 0.97056851046204 0.99311284479112 0.02943148953796 NA NA NA FALSE 0.084 0.609 . intron_variant MODIFIER BLMH HGNC 1059 ENST00000394819 5/10 1 NA CCA C,T 1.647e-05 17:30285372 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 intron_variant 0.171948 0.22198 0.07116 0.156188 0.576888800939737 0.11807 0.00956068971702177 FALSE 8.49365e-06 ENSE00000947608_002 ENSE00000947608 002 17 28612373 28612542 - 33 93 44 T C 28612394 1267 149 GGGGTCACAAAAAAATCCAAACTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285375 30285376 30285376 downstr_intron 12 1.375 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAGTTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 142 394 0.971620615735771 1 0.985810307867885 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA -0.0173078248494013 0.00270275100293227 0.97056851046204 0.99311284479112 NA -0.00730253692323451 NA FALSE NA 0 -0.033 . intron_variant MODIFIER BLMH HGNC 1059 ENST00000394819 5/10 1 NA ATT T,C 8.236e-06 17:30285376 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 intron_variant 0.097939 0.21678 0.0707 0.156188 0.447230056430119 0.11807 0.00956068971702177 FALSE 1.26357e-05 ENSE00000947608_003 ENSE00000947608 003 17 28612373 28612542 - 33 93 44 C T 28612408 1268 135 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTTCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285389 30285390 30285390 exon -3 0.978494623655914 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGAAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 288 3736 0.949532248262619 0.848331605486645 0.898931926874632 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA -0.0393961923225529 -0.148965643510422 0.97056851046204 0.99311284479112 NA -0.0941809179164876 NA FALSE NA 1 6.787 . missense_variant&splice_region_variant MODERATE BLMH HGNC 1059 ENST00000394819 5/11 rs552488995 1 probably_damaging(0.988) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCC C,T 8.236e-06 17:30285390 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 missense_variant 5.930302 0.996 0.99247 0.706548 0.999229729514395 0 0.00956068971702177 FALSE 4.15248e-06 ENSE00000947608_004 ENSE00000947608 004 17 28612373 28612542 - 33 93 44 T C 28612417 1269 126 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCACGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285398 30285399 30285399 exon -12 0.881720430107527 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCGTGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 184 31 1 1 1 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0110715594148282 0.00270275100293227 0.97056851046204 0.99311284479112 NA 0.00688715520888022 NA FALSE NA 1 6.977 . missense_variant MODERATE BLMH HGNC 1059 ENST00000394819 5/11 1 possibly_damaging(0.598) NA ATG T,C 8.236e-06 17:30285399 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 missense_variant 3.426012 0.99473 0.99194 0.706548 0.995249956451455 0 0.00956068971702177 FALSE NA ENSE00000947608_005 ENSE00000947608 005 17 28612373 28612542 - 33 93 44 C T 28612420 1270 123 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGATGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285401 30285402 30285402 exon -15 0.849462365591398 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACATCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 367 306 0.995797819568812 1 0.997898909784406 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.00686937898364037 0.00270275100293227 0.97056851046204 0.99311284479112 NA 0.00478606499328632 NA FALSE NA 0 -0.109 rs149410629 missense_variant MODERATE BLMH HGNC 1059 ENST00000394819 5/11 rs149410629 1 benign(0.01) NA T:0.0002 T:0 ACG C,T 8.236e-06 17:30285402 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 missense_variant 0.262185 0.17255 0.02184 0.706548 0.797558313304165 0 0.00956068971702177 FALSE 1.23071e-05 ENSE00000947608_006 ENSE00000947608 006 17 28612373 28612542 - 33 93 44 C T 28612424 1271 119 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCTTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285405 30285406 30285406 exon -19 0.806451612903226 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAAGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 159 548 1 1 1 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0110715594148282 0.00270275100293227 0.97056851046204 0.99311284479112 NA 0.00688715520888022 NA FALSE NA 0.998 0.51 . synonymous_variant LOW BLMH HGNC 1059 ENST00000394819 5/11 1 NA CCT C,T 1.647e-05 17:30285406 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 synonymous_variant 0.794902 0.97163 0.86798 0.706548 0.742059942504076 0 0.00956068971702177 FALSE 1.22807e-05 ENSE00000947608_007 ENSE00000947608 007 17 28612373 28612542 - 33 93 44 C A 28612432 1272 111 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGACGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285413 30285414 30285414 exon -27 0.720430107526882 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGTCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant 17 12 0.930447194961132 0.978367753153953 0.954407474057543 56 54 1 1 1 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 -0.0322768002045229 -4.52726044715135e-05 0.0110715594148282 0.00270275100293227 0.97056851046204 0.99311284479112 -0.0161610364044972 0.00688715520888022 0.0230481916133775 FALSE FALSE 0.652 1.109 . missense_variant MODERATE BLMH HGNC 1059 ENST00000394819 5/11 1 benign(0.001) NA GCC C,A 8.236e-06 17:30285414 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 missense_variant 1.002475 0.86229 0.77952 0.706548 0.940566001554053 0 0.00956068971702177 FALSE NA ENSE00000947608_008 ENSE00000947608 008 17 28612373 28612542 - 33 93 44 C T 28612433 1273 110 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCTGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285414 30285415 30285415 exon -28 0.709677419354839 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCAGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 576 918 0.996224468348881 0.995249418115144 0.995736943232012 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0072960277637093 -0.00204783088192406 0.97056851046204 0.99311284479112 NA 0.00262409844089262 NA FALSE NA 0.472 -0.175 rs190498822 synonymous_variant LOW BLMH HGNC 1059 ENST00000394819 5/11 rs190498822 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 CCG C,T 4.942e-05 17:30285415 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 synonymous_variant 2.084618 0.67876 0.10498 0.706548 0.826553149317233 0 0.00956068971702177 FALSE 6.95837e-05 ENSE00000947608_009 ENSE00000947608 009 17 28612373 28612542 - 33 93 44 G A 28612434 1274 109 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCAAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285415 30285416 30285416 exon -29 0.698924731182796 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTTGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 153 314 1 1 1 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0110715594148282 0.00270275100293227 0.97056851046204 0.99311284479112 NA 0.00688715520888022 NA FALSE NA 1 3.459 . missense_variant MODERATE BLMH HGNC 1059 ENST00000394819 5/11 1 benign(0.136) NA CGA G,A 1.647e-05 17:30285416 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 missense_variant 3.584741 0.98951 0.96885 0.706548 0.996652764016601 0 0.00956068971702177 FALSE 1.63733e-05 ENSE00000947608_010 ENSE00000947608 010 17 28612373 28612542 - 33 93 44 G T 28612436 1275 107 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGATATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285417 30285418 30285418 exon -31 0.67741935483871 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATATCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 644 331 0.998326579577338 1 0.999163289788669 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.00939813899216568 0.00270275100293227 0.97056851046204 0.99311284479112 NA 0.00605044499754898 NA FALSE NA 1 0.766 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:30285418 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 synonymous_variant 1.503166 0.9827 0.93703 0.706548 0.766299344442247 0 0.00956068971702177 FALSE 1.2274e-05 ENSE00000947608_011 ENSE00000947608 011 17 28612373 28612542 - 33 93 44 G A 28612436 1276 107 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAAATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285417 30285418 30285418 exon -31 0.67741935483871 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATTTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant 11 13 0.914979313124345 0.999086410593116 0.95703286185873 971 1684 0.978533964756974 0.995750096393469 0.987142030575221 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 -0.0477446820413104 0.0206733848346909 -0.0103944758281979 -0.00154715260359872 0.97056851046204 0.99311284479112 -0.0135356486033097 -0.00597081421589829 0.00756483438741146 FALSE FALSE 1 0.766 NA NA NA BLMH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BLMH NA NA NA ENSG00000108578 ENSE00003509332 synonymous_variant 1.652464 0.97908 0.89339 0.706548 0.767061942495345 0 0.00956068971702177 FALSE 8.18264e-06 ENSE00000947608_012 ENSE00000947608 012 17 28612373 28612542 - 33 93 44 C G 28612443 1277 100 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTGCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285424 30285425 30285425 exon -38 0.602150537634409 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGCAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 425 317 1 0.99376236361333 0.996881181806665 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0110715594148282 -0.0035348853837377 0.97056851046204 0.99311284479112 NA 0.00376833701554524 NA FALSE NA 0.103 -0.044 . missense_variant MODERATE BLMH HGNC 1059 ENST00000394819 5/11 1 benign(0.001) NA TCC C,G 8.236e-06 17:30285425 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 missense_variant 1.37622 0.93399 0.38145 0.706548 0.887116759747465 0 0.00956068971702177 FALSE 4.08794e-06 ENSE00000947608_013 ENSE00000947608 013 17 28612373 28612542 - 33 93 44 G C 28612448 1278 95 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTCGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285429 30285430 30285430 exon -43 0.548387096774194 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACGAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 912 1137 1 0.98451184661504 0.99225592330752 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0110715594148282 -0.0127854023820279 0.97056851046204 0.99311284479112 NA -0.000856921483599837 NA FALSE NA 0.997 0.319 rs7342921 synonymous_variant LOW BLMH HGNC 1059 ENST00000394819 5/11 rs7342921&COSM3755374 1 C:0.2688 C:0.2557 C:0.3746 NA C:0.1746 C:0.329 C:0.2464 C:0.2571 C:0.3228 TGG G,C 0.304 17:30285430 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 synonymous_variant 1.088165 0.97127 0.88569 0.706548 0.708727683524173 0 0.00956068971702177 FALSE 0.304827 ENSE00000947608_014 ENSE00000947608 014 17 28612373 28612542 - 33 93 44 G A 28612449 1279 94 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGATTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285430 30285431 30285431 exon -44 0.537634408602151 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAATCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 742 1442 0.991633766605474 1 0.995816883302737 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.00270532602030249 0.00270275100293227 0.97056851046204 0.99311284479112 NA 0.00270403851161738 NA FALSE NA 1 3.078 . missense_variant MODERATE BLMH HGNC 1059 ENST00000394819 5/11 1 benign(0.008) NA GGT G,A 1.647e-05 17:30285431 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 missense_variant 4.447479 0.98725 0.95841 0.706548 0.998983497143215 0 0.00956068971702177 FALSE 8.17869e-06 ENSE00000947608_015 ENSE00000947608 015 17 28612373 28612542 - 33 93 44 G A 28612469 1280 74 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGATTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285450 30285451 30285451 exon 30 0.32258064516129 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAATCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 13 91 1 0.917600007936095 0.958800003968047 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0110715594148282 -0.0796972410609731 0.97056851046204 0.99311284479112 NA -0.0343128408230725 NA FALSE NA 1 1.984 . synonymous_variant LOW BLMH HGNC 1059 ENST00000394819 5/11 1 NA GGT G,A 8.236e-06 17:30285451 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 synonymous_variant 1.300695 0.9791 0.92771 0.706548 0.862337076849782 0 0.00956068971702177 FALSE 4.09058e-06 ENSE00000947608_016 ENSE00000947608 016 17 28612373 28612542 - 33 93 44 T G 28612470 1281 73 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGGTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285451 30285452 30285452 exon 29 0.311827956989247 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGACCCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 1534 276 0.998799074647739 0.994226097028027 0.996512585837883 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.00987063406256761 -0.00307115196904106 0.97056851046204 0.99311284479112 NA 0.00339974104676327 NA FALSE NA 1 6.977 rs148543508 missense_variant MODERATE BLMH HGNC 1059 ENST00000394819 5/11 rs148543508 1 benign(0.078) NA G:0.0007 G:0 GTT T,G 8.236e-06 17:30285452 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 missense_variant 2.272044 0.9946 0.99285 0.706548 0.977076521095048 0 0.00956068971702177 FALSE 8.16947e-06 ENSE00000947608_019 ENSE00000947608 019 17 28612373 28612542 - 33 93 44 G A 28612487 1284 56 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAAAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285468 30285469 30285469 exon 12 0.129032258064516 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTTTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 190 735 0.995585866881599 1 0.9977929334408 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.00665742629642763 0.00270275100293227 0.97056851046204 0.99311284479112 NA 0.00468008864967995 NA FALSE NA 1 2.965 . synonymous_variant LOW BLMH HGNC 1059 ENST00000394819 5/11 1 NA AGA G,A 3.295e-05 17:30285469 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 synonymous_variant 1.695377 0.97603 0.93061 0.706548 0.832755893525435 0 0.00956068971702177 FALSE 3.3143e-05 ENSE00000947608_020 ENSE00000947608 020 17 28612373 28612542 - 33 93 44 T C 28612502 1285 41 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTACGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 30285483 30285484 30285484 upstr_intron -4 -0.0681818181818182 GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCGTAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant 15 10 0.985370247472479 0.997864193424246 0.991617220448363 248 1193 0.960008599496606 1 0.980004299748303 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 0.022646252306824 0.019451167665821 -0.0289198410885654 0.00270275100293227 0.97056851046204 0.99311284479112 0.0210487099863225 -0.0131085450428166 0.0341572550291391 FALSE FALSE 0.145 -0.405 . splice_region_variant&intron_variant LOW BLMH HGNC 1059 ENST00000394819 4/10 rs367890382 1 NA C:0 C:0.0001 ATG T,C 8.236e-06 17:30285484 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 splice_region_variant 1.672757 0.94904 0.39516 0.099367 0.769783931065861 0.484243 0.00956068971702177 FALSE 4.21113e-06 ENSE00000947608_021 ENSE00000947608 021 17 28612373 28612542 - 33 93 44 G A 28612519 1286 24 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAACACTCCAACAGTTACCCGAATTC 30285354 30285524 30285500 30285501 30285501 upstr_intron -21 -0.454545454545455 GAATTCGGGTAACTGTTGGAGTGTTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 123 1668 0.998751793937519 0.99852045208378 0.998636123010649 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.00982335335234719 0.00122320308671209 0.97056851046204 0.99311284479112 NA 0.00552327821952964 NA FALSE NA 0.429 1.913 . intron_variant MODIFIER BLMH HGNC 1059 ENST00000394819 4/10 1 NA AGC G,A 8.236e-06 17:30285501 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 non_coding_transcript_exon_variant 2.558777 0.25434 0.33831 0.099367 0.821751540756633 0.24866 0.00956068971702177 FALSE NA ENSE00000947608_022 ENSE00000947608 022 17 28612373 28612542 - 33 93 44 T G 28612523 1287 20 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACGCCAACAGTTACCCGAATTC 30285354 30285524 30285504 30285505 30285505 upstr_intron -25 -0.545454545454545 GAATTCGGGTAACTGTTGGCGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 97 731 1 0.882470437951095 0.941235218975548 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0110715594148282 -0.114826811045972 0.97056851046204 0.99311284479112 NA -0.051877625815572 NA FALSE NA 0.002 0.711 . intron_variant MODIFIER BLMH HGNC 1059 ENST00000394819 4/10 1 NA CTC T,G 1.647e-05 17:30285505 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 non_coding_transcript_exon_variant 2.541324 0.27105 0.2531 0.099367 0.784332528298751 0.24866 0.00956068971702177 FALSE 1.76118e-05 ENSE00000947608_023 ENSE00000947608 023 17 28612373 28612542 - 33 93 44 C T 28612524 1288 19 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTTCAACAGTTACCCGAATTC 30285354 30285524 30285505 30285506 30285506 upstr_intron -26 -0.568181818181818 GAATTCGGGTAACTGTTGAAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 174 2044 1 0.999661375769911 0.999830687884955 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA 0.0110715594148282 0.00236412677284326 0.97056851046204 0.99311284479112 NA 0.00671784309383572 NA FALSE NA 0 0.317 . intron_variant MODIFIER BLMH HGNC 1059 ENST00000394819 4/10 1 NA TCC C,T 8.237e-06 17:30285506 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 non_coding_transcript_exon_variant 2.484396 0.20957 0.11683 0.099367 0.838916396197794 0.24866 0.00956068971702177 FALSE NA ENSE00000947608_024 ENSE00000947608 024 17 28612373 28612542 - 33 93 44 C T 28612525 1289 18 GGGGTCACAAAAAAATCCAAATTTTGTTATTACCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATCTATGACAGAAACTTATTCAGCACTCTAACAGTTACCCGAATTC 30285354 30285524 30285506 30285507 30285507 upstr_intron -27 -0.590909090909091 GAATTCGGGTAACTGTTAGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC mutant NA NA NA NA NA 806 1566 0.981953353137086 0.999529783789658 0.990741568463372 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 NA NA -0.00697508744808617 0.00223253479258978 0.97056851046204 0.99311284479112 NA -0.0023712763277482 NA FALSE NA 0 -0.563 . intron_variant MODIFIER BLMH HGNC 1059 ENST00000394819 4/10 1 NA CCA C,T 8.237e-06 17:30285507 BLMH HGNC Symbol protein_coding 43861 ENSG00000108578 ENSE00003509332 non_coding_transcript_exon_variant 2.266787 0.15996 0.04065 0.099367 0.84061657658058 0.24866 0.00956068971702177 FALSE 4.38139e-06 ENSE00000947608_BRK ENSE00000947608 BRK 17 28612373 28612542 - 33 93 44 A,G; T,T NA NA NA GGGGTCACAAAAAAATCCAAATTTTGTTATTGGCTCCTCCATCATGACGTCCTGTGTGGCCGAGATTTCTCCTTTGGTTGCTCCACTGTGTACCAGGTTCCGCAGTCGTATACAGAATTCTCTCATAAATGACAGAAACTTATTCAGCACTCCAACAGTTACCCGAATTC 30285354 30285524 NA NA NA NA NA NA GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATTTATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGCCAATAACAAAATTTGGATTTTTTTGTGACCCC GAATTCGGGTAACTGTTGGAGTGCTGAATAAGTTTCTGTCATAGATGAGAGAATTCTGTATACGACTGCGGAACCTGGTACACAGTGGAGCAACCAAAGGAGAAATCTCGGCCACACAGGACGTCATGATGGAGGAGGTAATAACAAAATTTGGATTTTTTTGTGACCCC control 71 51 0 0 0 770 361 0.0416336199918714 0.00421706346833904 0.0229253417301052 0.962723995165655 0.978413025758425 0.988928440585172 0.997297248997068 -0.962723995165655 -0.978413025758425 -0.947294820593301 -0.993080185528729 0.97056851046204 0.99311284479112 -0.97056851046204 -0.970187503061015 0.000381007401025535 TRUE TRUE NA NA NA NA NA BLMH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BLMH NA NA NA ENSG00000108578 ENSE00003509332 NA NA NA NA NA NA NA 0.00956068971702177 FALSE NA ENSE00000948659_000 ENSE00000948659 000 18 21447750 21447919 + 48 84 38 NA NA NA NA NA AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 NA NA NA NA NA NA AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT natural 106 170 0.993341492287754 0.980276985965528 0.986809239126641 1796 1932 0.976399394903944 0.877202283890214 0.926800839397079 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0 0 0 0 0.986809239126641 0.926800839397079 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAMA3 NA NA NA ENSG00000053747 ENSE00000948659 NA NA NA NA NA NA NA 4.40816622681492e-24 FALSE NA ENSE00000948659_001 ENSE00000948659 001 18 21447750 21447919 + 48 84 38 A G 21447771 306 22 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTCAGTACCTTCACTGGGATCTTT 23867785 23867955 23867806 23867807 23867807 upstr_intron -27 -0.541666666666667 AAAGATCCCAGTGAAGGTACTGACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 821 2183 1 0.999562974805406 0.999781487402703 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA 0.0236006050960563 0.122360690915192 0.986809239126641 0.926800839397079 NA 0.0729806480056241 NA FALSE NA 0 -1.164 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:23867807 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 intron_variant 0.023434 0.1887 0.01043 0.074388 0.432838946198259 0.0455939 4.40816622681492e-24 FALSE 0.0147369 ENSE00000948659_002 ENSE00000948659 002 18 21447750 21447919 + 48 84 38 A C 21447771 307 22 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTGAGTACCTTCACTGGGATCTTT 23867785 23867955 23867806 23867807 23867807 upstr_intron -27 -0.541666666666667 AAAGATCCCAGTGAAGGTACTCACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 48 33 0.928798554055454 0.999305911764521 0.964052232909988 726 595 0.827480525143062 0.993058252827418 0.91026938898524 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 -0.0645429382323 0.0190289257989927 -0.148918869760881 0.115855968937204 0.986809239126641 0.926800839397079 -0.0227570062166536 -0.016531450411839 0.00622555580481465 FALSE FALSE 0 -1.164 NA NA NA LAMA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAMA3 NA NA NA ENSG00000053747 ENSE00000948659 intron_variant -0.187002 0.23846 0.06062 0.074388 0.479929161491596 0.0455939 4.40816622681492e-24 FALSE 8.124e-06 ENSE00000948659_003 ENSE00000948659 003 18 21447750 21447919 + 48 84 38 A C 21447774 308 25 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGGGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867809 23867810 23867810 upstr_intron -24 -0.479166666666667 AAAGATCCCAGTGAAGGTACTAACCCATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 29 16 0.998757070667102 1 0.999378535333551 18 166 1 1 1 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00541557837934781 0.0197230140344716 0.0236006050960563 0.122797716109786 0.986809239126641 0.926800839397079 0.0125692962069097 0.073199160602921 0.0606298643960113 FALSE FALSE 0 -0.594 . intron_variant MODIFIER LAMA3 HGNC 6483 ENST00000313654 36/74 1 NA CAC A,C 8.269e-06 18:23867810 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 intron_variant -0.279935 0.16577 0.02421 0.074388 0.348154587754131 0.0455939 4.40816622681492e-24 FALSE 4.06167e-06 ENSE00000948659_004 ENSE00000948659 004 18 21447750 21447919 + 48 84 38 A T 21447792 309 43 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTAAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867827 23867828 23867828 upstr_intron -6 -0.104166666666667 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTTAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 435 322 0.999526010168152 0.996732643347724 0.998129326757938 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA 0.0231266152642081 0.11953035945751 0.986809239126641 0.926800839397079 NA 0.0713284873608588 NA FALSE NA 0 -0.206 . splice_region_variant&intron_variant LOW LAMA3 HGNC 6483 ENST00000313654 36/74 1 NA TAA A,T 8.269e-06 18:23867828 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 splice_region_variant 0.016234 0.25625 0.13301 0.074388 0.623642155295459 0.130412 4.40816622681492e-24 FALSE 4.06147e-06 ENSE00000948659_007 ENSE00000948659 007 18 21447750 21447919 + 48 84 38 G A 21447825 312 76 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTTCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867860 23867861 23867861 exon 28 0.333333333333333 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGAAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 217 2877 1 0.956033512788473 0.978016756394237 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA 0.0236006050960563 0.078831228898259 0.986809239126641 0.926800839397079 NA 0.0512159169971577 NA FALSE NA 1 4.082 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 1 benign(0.022) NA GGA G,A 8.265e-06 18:23867861 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 2.600676 0.99509 0.96967 0.615465 0.995998489692557 0 4.40816622681492e-24 FALSE 4.06121e-06 ENSE00000948659_008 ENSE00000948659 008 18 21447750 21447919 + 48 84 38 C A 21447837 313 88 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGTGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867872 23867873 23867873 exon 40 0.476190476190476 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCACACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 39 19 1 0.997558175885175 0.998779087942588 617 667 0.999062450739678 0.87800722925089 0.938534839995284 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00665850771224608 0.017281189919647 0.0226630558357346 0.000804945360675213 0.986809239126641 0.926800839397079 0.0119698488159465 0.0117340005982049 0.000235848217741641 FALSE FALSE 1 6.289 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 1 probably_damaging(1) NA CCC C,A 8.267e-06 18:23867873 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 5.628658 0.9953 0.98732 0.615465 0.997239436585147 0 4.40816622681492e-24 FALSE 4.06134e-06 ENSE00000948659_009 ENSE00000948659 009 18 21447750 21447919 + 48 84 38 C T 21447838 314 89 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTAGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867873 23867874 23867874 exon 41 0.488095238095238 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCTACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 48 82 0.982875685407296 0.85582270008185 0.919349192744573 1237 501 0.917249040036259 0.779920556241626 0.848584798138942 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 -0.0104658068804584 -0.124454285883678 -0.0591503548676849 -0.0972817276485883 0.986809239126641 0.926800839397079 -0.0674600463820682 -0.0782160412581366 0.0107559948760685 FALSE FALSE 1 6.289 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 1 probably_damaging(0.999) NA CCA C,T 2.48e-05 18:23867874 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 5.809394 0.9912 0.97988 0.615465 0.998977936129449 0 4.40816622681492e-24 FALSE 2.84289e-05 ENSE00000948659_010 ENSE00000948659 010 18 21447750 21447919 + 48 84 38 C G 21447840 315 91 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCCTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867875 23867876 23867876 exon -42 0.511904761904762 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCAGGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 33 41 1 0.999455440071089 0.999727720035545 1144 808 0.997815352710444 0.852219461066029 0.925017406888237 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00665850771224608 0.0191784541055608 0.0214159578065002 -0.024982822824185 0.986809239126641 0.926800839397079 0.0129184809089035 -0.00178343250884239 0.0147019134177458 FALSE FALSE 0.197 0.518 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:23867876 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 3.939908 0.81022 0.42898 0.615465 0.993806639531038 0 4.40816622681492e-24 FALSE 3.2491e-05 ENSE00000948659_011 ENSE00000948659 011 18 21447750 21447919 + 48 84 38 C T 21447840 316 91 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCATGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867875 23867876 23867876 exon -42 0.511904761904762 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCATGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 457 279 0.870348091034025 1 0.935174045517013 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA -0.106051303869918 0.122797716109786 0.986809239126641 0.926800839397079 NA 0.00837320611993358 NA FALSE NA 0.197 0.518 NA NA NA LAMA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAMA3 NA NA NA ENSG00000053747 ENSE00000948659 missense_variant 5.654274 0.78078 0.24627 0.615465 0.999196127301257 0 4.40816622681492e-24 FALSE 1.21841e-05 ENSE00000948659_012 ENSE00000948659 012 18 21447750 21447919 + 48 84 38 G A 21447841 317 92 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCTGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867876 23867877 23867877 exon -41 0.523809523809524 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACAGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 26 21 0.998216988929692 0.988680406277608 0.99344869760365 1094 240 0.99901782191669 0.977618906619934 0.988318364268312 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00487549664193843 0.00840342031207986 0.0226184270127463 0.10041662272972 0.986809239126641 0.926800839397079 0.00663945847700914 0.061517524871233 0.0548780663942238 FALSE FALSE 0.813 2.701 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 1 benign(0.103) NA CGG G,A 2.48e-05 18:23867877 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 2.697058 0.90509 0.73298 0.615465 0.973785241294959 0 4.40816622681492e-24 FALSE 3.24897e-05 ENSE00000948659_013 ENSE00000948659 013 18 21447750 21447919 + 48 84 38 G A 21447842 318 93 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGTCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867877 23867878 23867878 exon -40 0.535714285714286 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGACCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 23 29 1 0.999819662324056 0.999909831162028 954 391 0.998960069178869 0.991714044556115 0.995337056867492 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00665850771224608 0.0195426763585279 0.022560674274925 0.114511760665901 0.986809239126641 0.926800839397079 0.013100592035387 0.0685362174704128 0.0554356254350258 FALSE FALSE 0.812 0.283 . synonymous_variant LOW LAMA3 HGNC 6483 ENST00000313654 37/75 1 NA GGC G,A 8.268e-06 18:23867878 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 synonymous_variant 1.088627 0.86277 0.66877 0.615465 0.643647363298665 0 4.40816622681492e-24 FALSE 4.06138e-06 ENSE00000948659_014 ENSE00000948659 014 18 21447750 21447919 + 48 84 38 G T 21447846 319 97 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTATGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867881 23867882 23867882 exon -36 0.583333333333333 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCATACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 25 45 1 0.997514124937515 0.998757062468757 735 292 1 0.97267876846687 0.986339384233435 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00665850771224608 0.0172371389719862 0.0236006050960563 0.095476484576656 0.986809239126641 0.926800839397079 0.0119478233421161 0.0595385448363562 0.04759072149424 FALSE FALSE 1 7.935 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 1 probably_damaging(1) NA AGA G,T 8.268e-06 18:23867882 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 6.704588 0.99564 0.99118 0.615465 0.99470094601301 0 4.40816622681492e-24 FALSE 2.43681e-05 ENSE00000948659_015 ENSE00000948659 015 18 21447750 21447919 + 48 84 38 C T 21447848 320 99 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGATCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867883 23867884 23867884 exon -34 0.607142857142857 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGATCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 150 278 0.996377841494991 0.992907135983791 0.994642488739391 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA 0.0199784465910469 0.115704852093576 0.986809239126641 0.926800839397079 NA 0.0678416493423116 NA FALSE NA 0.999 2.837 . synonymous_variant LOW LAMA3 HGNC 6483 ENST00000313654 37/75 1 NA ACC C,T 8.268e-06 18:23867884 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 synonymous_variant 1.623234 0.98163 0.8994 0.615465 0.674628812850245 0 4.40816622681492e-24 FALSE 1.62455e-05 ENSE00000948659_017 ENSE00000948659 017 18 21447750 21447919 + 48 84 38 C T 21447849 322 100 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCAGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867884 23867885 23867885 exon -33 0.619047619047619 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACTGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 726 535 0.959618486301258 0.992970719559797 0.976294602930527 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA -0.0167809086026859 0.115768435669583 0.986809239126641 0.926800839397079 NA 0.0494937635334483 NA FALSE NA 0.993 0.294 NA NA NA LAMA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:23867885 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 6.822604 0.83302 0.79134 0.615465 0.999057080660078 0 4.40816622681492e-24 FALSE 2.84303e-05 ENSE00000948659_018 ENSE00000948659 018 18 21447750 21447919 + 48 84 38 G A 21447850 323 101 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCTGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867885 23867886 23867886 exon -32 0.630952380952381 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCAGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 825 1267 0.978367541875998 0.98591487690824 0.982141209392119 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA 0.00196814697205427 0.108712593018026 0.986809239126641 0.926800839397079 NA 0.05534036999504 NA FALSE NA 1 2.759 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 COSM75203 1 benign(0.229) NA CGG G,A 1.654e-05 18:23867886 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 3.561583 0.86682 0.82425 0.615465 0.99767681607358 0 4.40816622681492e-24 FALSE 2.43683e-05 ENSE00000948659_019 ENSE00000948659 019 18 21447750 21447919 + 48 84 38 T G 21447853 324 104 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCCGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867888 23867889 23867889 exon -29 0.666666666666667 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCGGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 1511 1232 0.95877608918534 0.997266332103189 0.978021210644265 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA -0.0176233057186036 0.120064048212975 0.986809239126641 0.926800839397079 NA 0.0512203712471855 NA FALSE NA 0.954 1.515 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 1 benign(0.16) NA CTG T,G 1.654e-05 18:23867889 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 2.25073 0.91044 0.78195 0.615465 0.952370388507418 0 4.40816622681492e-24 FALSE 4.06141e-06 ENSE00000948659_020 ENSE00000948659 020 18 21447750 21447919 + 48 84 38 G C 21447862 325 113 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTGCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867897 23867898 23867898 exon -20 0.773809523809524 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGCACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 15 18 1 1 1 415 562 0.999900793245477 0.999932254748767 0.999916523997122 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00665850771224608 0.0197230140344716 0.0235013983415338 0.122729970858553 0.986809239126641 0.926800839397079 0.0131907608733589 0.0731156846000432 0.0599249237266843 FALSE FALSE 1 4.08 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 rs374752079 1 possibly_damaging(0.633) NA C:0 C:0.0001 GGA G,C 8.27e-06 18:23867898 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 4.282593 0.99208 0.96799 0.615465 0.969585577042548 0 4.40816622681492e-24 FALSE 4.06134e-06 ENSE00000948659_021 ENSE00000948659 021 18 21447750 21447919 + 48 84 38 C T 21447864 326 115 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCATCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867899 23867900 23867900 exon -18 0.797619047619048 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGATGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 10 18 1 1 1 121 58 0.718376201851965 0.904826900922297 0.811601551387131 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00665850771224608 0.0197230140344716 -0.258023193051979 0.0276246170320827 0.986809239126641 0.926800839397079 0.0131907608733589 -0.115199288009948 0.128390048883307 FALSE FALSE 0.363 1.093 . stop_gained HIGH LAMA3 HGNC 6483 ENST00000313654 37/75 rs552326056&COSM1388058 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 HC ACG C,T 0.0001323 18:23867900 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 stop_gained 11.815752 0.5238 0.43921 0.615465 0.992948470941289 0 4.40816622681492e-24 FALSE 0.000121844 ENSE00000948659_022 ENSE00000948659 022 18 21447750 21447919 + 48 84 38 G A 21447865 327 116 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTTGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867900 23867901 23867901 exon -17 0.80952380952381 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACAAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 36 22 0.897694225693309 0.998127837098018 0.947911031395663 439 293 0.986484408722406 1 0.993242204361203 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 -0.0956472665944453 0.0178508511324893 0.0100850138184619 0.122797716109786 0.986809239126641 0.926800839397079 -0.038898207730978 0.0664413649641238 0.105339572695102 FALSE FALSE 0.562 3.333 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 COSM987120 1 benign(0.407) NA CGA G,A 1.654e-05 18:23867901 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 2.737182 0.69911 0.75771 0.615465 0.989435918924787 0 4.40816622681492e-24 FALSE 1.62462e-05 ENSE00000948659_023 ENSE00000948659 023 18 21447750 21447919 + 48 84 38 G C 21447867 328 118 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCAGTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867902 23867903 23867903 exon -15 0.833333333333333 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGACTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 30 30 0.996053910288464 0.996703709177032 0.996378809732748 355 790 0.995217144506892 0.94865954020858 0.971938342357736 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00271241800070998 0.0164267232115034 0.0188177496029479 0.0714572563183661 0.986809239126641 0.926800839397079 0.00956957060610669 0.045137502960657 0.0355679323545503 FALSE FALSE 1 2.681 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:23867903 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 1.785401 0.98879 0.95177 0.615465 0.949380530134418 0 4.40816622681492e-24 FALSE 0 ENSE00000948659_024 ENSE00000948659 024 18 21447750 21447919 + 48 84 38 G A 21447867 329 118 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCATTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867902 23867903 23867903 exon -15 0.833333333333333 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAATGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 15 26 0.997517227245287 1 0.998758613622644 190 359 0.997149745916139 1 0.99857487295807 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00417573495753354 0.0197230140344716 0.0207503510121958 0.122797716109786 0.986809239126641 0.926800839397079 0.0119493744960026 0.0717740335609907 0.0598246590649881 FALSE FALSE 1 2.681 NA NA NA LAMA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAMA3 NA NA NA ENSG00000053747 ENSE00000948659 missense_variant 4.732199 0.98705 0.92442 0.615465 0.99807143272148 0 4.40816622681492e-24 FALSE 8.12348e-06 ENSE00000948659_025 ENSE00000948659 025 18 21447750 21447919 + 48 84 38 C T 21447872 330 123 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCACATGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867907 23867908 23867908 exon -10 0.892857142857143 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCATGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 18 13 0.999524721856332 1 0.999762360928166 287 18 0.991027915895097 0.892378509294651 0.941703212594874 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.00618322956857786 0.0197230140344716 0.0146285209911531 0.0151762254044365 0.986809239126641 0.926800839397079 0.0129531218015247 0.0149023731977948 0.00194925139627006 FALSE FALSE 0.802 1.528 . synonymous_variant LOW LAMA3 HGNC 6483 ENST00000313654 37/75 1 NA ACG C,T 3.308e-05 18:23867908 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 synonymous_variant 0.993829 0.8882 0.64467 0.615465 0.362395128511663 0 4.40816622681492e-24 FALSE 2.4371e-05 ENSE00000948659_026 ENSE00000948659 026 18 21447750 21447919 + 48 84 38 G A 21447873 331 124 AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTACCTCGACCATGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867908 23867909 23867909 exon -9 0.904761904761905 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACATGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 325 125 0.991885255134759 0.8 0.89594262756738 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA 0.0154858602308157 -0.0772022838902143 0.986809239126641 0.926800839397079 NA -0.0308582118296993 NA FALSE NA 0.007 -1.254 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 37/75 1 benign(0.065) NA CGT G,A 6.617e-05 18:23867909 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 missense_variant 0.438847 0.54734 0.05236 0.615465 0.953464576360889 0 4.40816622681492e-24 FALSE 5.28056e-05 ENSE00000948659_029 ENSE00000948659 029 18 21447750 21447919 + 48 84 38 T C 21447900 334 151 AAACAGAAAGGACCATCCTGTGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867935 23867936 23867936 downstr_intron 19 1.51351351351351 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCACAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant NA NA NA NA NA 939 627 0.959027944394663 1 0.979513972197332 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 NA NA -0.0173714505092804 0.122797716109786 0.986809239126641 0.926800839397079 NA 0.0527131328002526 NA FALSE NA 0 -1.293 . intron_variant MODIFIER LAMA3 HGNC 6483 ENST00000313654 37/74 1 NA ATA T,C 1.654e-05 18:23867936 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 intron_variant -0.225753 0.16625 0.07123 0.078448 0.272057744541051 0.046323 4.40816622681492e-24 FALSE 8.12519e-06 ENSE00000948659_031 ENSE00000948659 031 18 21447750 21447919 + 48 84 38 G A 21447903 336 154 AAACAGAAAGGACCATTCTATGGTTGCTCTTCCTTTACCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCCTGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 23867938 23867939 23867939 downstr_intron 22 1.59459459459459 AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGAATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT mutant 20 17 0.996143228762974 1 0.998071614381487 731 718 0.998127233844892 0.97543812917732 0.986782681511106 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 0.0028017364752202 0.0197230140344716 0.0217278389409482 0.098235845287106 0.986809239126641 0.926800839397079 0.0112623752548459 0.0599818421140271 0.0487194668591812 FALSE FALSE 0 -0.932 . intron_variant MODIFIER LAMA3 HGNC 6483 ENST00000313654 37/74 rs201345245 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGA G,A 6.618e-05 18:23867939 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00000948659 intron_variant 0.192302 0.09864 0.00229 0.078448 0.585477134131421 0.046323 4.40816622681492e-24 FALSE 6.50084e-05 ENSE00000948659_BRK ENSE00000948659 BRK 18 21447750 21447919 + 48 84 38 A,G; T,T NA NA NA AAACAGAAAGGACCATCCTATGGTTGCTCTTCCTTTGGCTCGACCACGTGCACTCGTCCATGATGCAGCCGGTCTGGCCGTGGGGTGTTTGTCTCCTCATAGATGATGGACATGTGCTGACCAAGTTTAAAGAAAACCATGAATGTGTTAGTACCTTCACTGGGATCTTT 23867785 23867955 NA NA NA NA NA NA AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACTTGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGCCAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT AAAGATCCCAGTGAAGGTACTAACACATTCATGGTTTTCTTTAAACAGGGTCAGCACATGTCCATCATCTATGAGGAGACAAACACCCCACGGCCAGACCGGCTGCATCATGGACGAGTGCACGTGGTCGAGGTAAAGGAAGAGCAACCATAGGATGGTCCTTTCTGTTT control 276 91 0 0 0 3964 89 0.00698244415077694 0 0.00349122207538847 0.993341492287754 0.980276985965528 0.976399394903944 0.877202283890214 -0.993341492287754 -0.980276985965528 -0.969416950753167 -0.877202283890214 0.986809239126641 0.926800839397079 -0.986809239126641 -0.923309617321691 0.0634996218049506 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00000948659 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00000949859_000 ENSE00000949859 000 17 74158589 74158758 - 44 72 54 NA NA NA NA NA TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 NA NA NA NA NA NA TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC natural NA NA NA NA NA 7475 1908 0.99046171656418 0.983778045373224 0.987119880968703 NA NA 0.99046171656418 0.983778045373224 NA NA 0 0 NA 0.987119880968703 NA 0 NA FALSE NA NA NA NA NA NA RNF157 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF157 NA NA NA ENSG00000141576 ENSE00000949859 NA NA NA NA NA NA NA 0.000108022535284771 FALSE NA ENSE00000949859_001 ENSE00000949859 001 17 74158589 74158758 - 44 72 54 A G 74158599 3105 160 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTCCCAGGAGGCC 76162507 76162677 76162517 76162518 76162518 downstr_intron 34 1.7906976744186 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTCCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 143 327 0.959537854575395 1 0.979768927287697 NA NA 0.99046171656418 0.983778045373224 NA NA -0.0309238619887855 0.0162219546267756 NA 0.987119880968703 NA -0.00735095368100497 NA FALSE NA 0 -0.068 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA GAA A,G 1.647e-05 17:76162518 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 intron_variant 0.702949 0.09622 0.00067 0.164513 0.667435344242488 0.0476178 0.000108022535284771 FALSE 1.2507e-05 ENSE00000949859_002 ENSE00000949859 002 17 74158589 74158758 - 44 72 54 A C 74158608 3106 151 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAAGGTACTCTTTCCAGGAGGCC 76162507 76162677 76162526 76162527 76162527 downstr_intron 25 1.58139534883721 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAAGGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 2628 596 0.981121723455536 0.993631795076098 0.987376759265817 NA NA 0.99046171656418 0.983778045373224 NA NA -0.00933999310864486 0.00985374970287323 NA 0.987119880968703 NA 0.000256878297114183 NA FALSE NA 0 -1.489 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA CAT A,C 8.237e-06 17:76162527 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 intron_variant -0.387301 0.08255 0.00316 0.164513 0.524666330652238 0.088125 0.000108022535284771 FALSE 4.11716e-06 ENSE00000949859_003 ENSE00000949859 003 17 74158589 74158758 - 44 72 54 T C 74158623 3107 136 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTGCCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162541 76162542 76162542 downstr_intron 10 1.23255813953488 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTGCCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 761 583 1 0.998873720264599 0.999436860132299 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00953828343581953 0.0150956748913741 NA 0.987119880968703 NA 0.0123169791635968 NA FALSE NA 0 -1.58 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 rs377428649 1 NA C:0 C:0.0001 GTA T,C 8.237e-06 17:76162542 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 intron_variant 0.12367 0.06524 0.00803 0.164513 0.439469723288988 0.088125 0.000108022535284771 FALSE 4.0951e-06 ENSE00000949859_004 ENSE00000949859 004 17 74158589 74158758 - 44 72 54 C A 74158628 3108 131 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAATTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162546 76162547 76162547 downstr_intron 5 1.11627906976744 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAATTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 442 1394 0.999065188896319 0.883637121247077 0.941351155071698 NA NA 0.99046171656418 0.983778045373224 NA NA 0.0086034723321381 -0.100140924126148 NA 0.987119880968703 NA -0.0457687258970048 NA FALSE NA 0.9 2.019 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA ACT C,A 8.236e-06 17:76162547 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 splice_region_variant 1.448909 0.96015 0.6101 0.164513 0.707516393961536 0.325859 0.000108022535284771 FALSE 4.08991e-06 ENSE00000949859_005 ENSE00000949859 005 17 74158589 74158758 - 44 72 54 C T 74158641 3109 118 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAAATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162559 76162560 76162560 exon -9 0.888888888888889 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAAATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 7650 3293 0.891810029466196 0.997015548869234 0.944412789167715 NA NA 0.99046171656418 0.983778045373224 NA NA -0.0986516870979842 0.0132375034960094 NA 0.987119880968703 NA -0.0427070918009874 NA FALSE NA 1 7.774 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:76162560 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 4.298886 0.99552 0.98821 0.706298 0.998166696929312 0 0.000108022535284771 FALSE 3.25698e-05 ENSE00000949859_006 ENSE00000949859 006 17 74158589 74158758 - 44 72 54 C G 74158641 3110 118 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAACATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162559 76162560 76162560 exon -9 0.888888888888889 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAACATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 609 425 0.999748281848353 1 0.999874140924176 NA NA 0.99046171656418 0.983778045373224 NA NA 0.0092865652841726 0.0162219546267756 NA 0.987119880968703 NA 0.0127542599554741 NA FALSE NA 1 7.774 NA NA NA RNF157 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF157 NA NA NA ENSG00000141576 ENSE00000949859 missense_variant 5.041738 0.99575 0.99104 0.706298 0.995457996992674 0 0.000108022535284771 FALSE 1.62849e-05 ENSE00000949859_007 ENSE00000949859 007 17 74158589 74158758 - 44 72 54 G T 74158644 3111 115 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACAAAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162562 76162563 76162563 exon -12 0.847222222222222 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACAAAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 602 786 0.959094359559489 0.996839774225375 0.977967066892432 NA NA 0.99046171656418 0.983778045373224 NA NA -0.0313673570046911 0.0130617288521507 NA 0.987119880968703 NA -0.00915281407627017 NA FALSE NA 1 9.811 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 rs556471872&COSM1324840 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TGT G,T 0.0001565 17:76162563 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 3.517511 0.99577 0.99403 0.706298 0.994496217935468 0 0.000108022535284771 FALSE 0.000158752 ENSE00000949859_008 ENSE00000949859 008 17 74158589 74158758 - 44 72 54 A G 74158653 3112 106 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGCACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162571 76162572 76162572 exon -21 0.722222222222222 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGCACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 459 322 1 1 1 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00953828343581953 0.0162219546267756 NA 0.987119880968703 NA 0.0128801190312975 NA FALSE NA 1 5.885 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA TAC A,G 8.236e-06 17:76162572 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 2.604969 0.98957 0.96531 0.706298 0.998085999428953 0 0.000108022535284771 FALSE 4.06981e-06 ENSE00000949859_009 ENSE00000949859 009 17 74158589 74158758 - 44 72 54 A G 74158664 3113 95 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAACTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162582 76162583 76162583 exon -32 0.569444444444444 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAACTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 1689 495 0.99951166781486 1 0.99975583390743 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00904995125067942 0.0162219546267756 NA 0.987119880968703 NA 0.0126359529387275 NA FALSE NA 1 9.286 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA AAT A,G 8.236e-06 17:76162583 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 6.217455 0.99403 0.99243 0.706298 0.998667450066733 0 0.000108022535284771 FALSE 4.06944e-06 ENSE00000949859_010 ENSE00000949859 010 17 74158589 74158758 - 44 72 54 A G 74158669 3114 90 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTACGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162587 76162588 76162588 exon 36 0.5 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTACGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 327 1912 1 0.999877432490834 0.999938716245417 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00953828343581953 0.0160993871176095 NA 0.987119880968703 NA 0.0128188352767145 NA FALSE NA 0.001 -1.081 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 COSM1522269 1 NA CAT A,G 8.236e-06 17:76162588 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 synonymous_variant 0.392319 0.96625 0.10383 0.706298 0.372078993500219 0 0.000108022535284771 FALSE NA ENSE00000949859_011 ENSE00000949859 011 17 74158589 74158758 - 44 72 54 T C 74158670 3115 89 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTGTGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162588 76162589 76162589 exon 35 0.486111111111111 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTGTGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 575 1724 0.995202630109209 0.998366571868736 0.996784600988972 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00474091354502804 0.0145885264955119 NA 0.987119880968703 NA 0.00966472002026997 NA FALSE NA 1 7.995 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA ATA T,C 8.236e-06 17:76162589 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 6.202012 0.99385 0.9869 0.706298 0.998479388066817 0 0.000108022535284771 FALSE 4.07329e-06 ENSE00000949859_012 ENSE00000949859 012 17 74158589 74158758 - 44 72 54 G A 74158683 3116 76 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCTTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162601 76162602 76162602 exon 22 0.305555555555556 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCTTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 122 509 0.978263408109263 0.998337955903149 0.988300682006206 NA NA 0.99046171656418 0.983778045373224 NA NA -0.012198308454917 0.0145599105299242 NA 0.987119880968703 NA 0.00118080103750362 NA FALSE NA 1 5.607 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA AGG G,A 1.647e-05 17:76162602 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 6.342555 0.98941 0.97201 0.706298 0.999098023590848 0 0.000108022535284771 FALSE 8.1652e-06 ENSE00000949859_014 ENSE00000949859 014 17 74158589 74158758 - 44 72 54 A G 74158689 3118 70 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCCACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162607 76162608 76162608 exon 16 0.222222222222222 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCCACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 2751 429 0.99099458207776 0.951127800032147 0.971061191054953 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00053286551357945 -0.0326502453410776 NA 0.987119880968703 NA -0.0160586899137491 NA FALSE NA 1 9.286 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA TAG A,G 8.236e-06 17:76162608 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 6.451416 0.99406 0.99244 0.706298 0.998507704367375 0 0.000108022535284771 FALSE 4.08317e-06 ENSE00000949859_015 ENSE00000949859 015 17 74158589 74158758 - 44 72 54 C T 74158698 3119 61 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACAGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162616 76162617 76162617 exon 7 0.0972222222222222 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACAGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 55 507 0.106336244824679 0.0169156076738082 0.0616259262492435 NA NA 0.99046171656418 0.983778045373224 NA NA -0.884125471739502 -0.966862437699416 NA 0.987119880968703 NA -0.925493954719459 NA TRUE NA 0.999 3.946 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 rs570180754 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 3.295e-05 17:76162617 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 4.312086 0.99243 0.96699 0.706298 0.994348705868992 0 0.000108022535284771 FALSE 2.04568e-05 ENSE00000949859_016 ENSE00000949859 016 17 74158589 74158758 - 44 72 54 G A 74158699 3120 60 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGATGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162617 76162618 76162618 exon 6 0.0833333333333333 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGATGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 246 446 0.859256077123959 0.999914625465813 0.929585351294886 NA NA 0.99046171656418 0.983778045373224 NA NA -0.131205639440222 0.016136580092589 NA 0.987119880968703 NA -0.0575345296738163 NA FALSE NA 0.257 -0.119 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA CGT G,A 8.236e-06 17:76162618 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 synonymous_variant 1.263191 0.95023 0.10232 0.706298 0.526126397575594 0 0.000108022535284771 FALSE NA ENSE00000949859_017 ENSE00000949859 017 17 74158589 74158758 - 44 72 54 C T 74158704 3121 55 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGATAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162622 76162623 76162623 exon 1 0.0138888888888889 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGATAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 67 777 1 0.994919470307279 0.997459735153639 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00953828343581953 0.0111414249340541 NA 0.987119880968703 NA 0.0103398541849368 NA FALSE NA 1 7.774 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 rs200806844 1 NA ACC C,T 3.295e-05 17:76162623 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 missense_variant 3.922862 0.99552 0.98821 0.706298 0.998862711296322 0 0.000108022535284771 FALSE 3.27697e-05 ENSE00000949859_018 ENSE00000949859 018 17 74158589 74158758 - 44 72 54 C G 74158710 3122 49 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTCTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162628 76162629 76162629 upstr_intron -6 -0.0925925925925926 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTCTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 600 171 0.985166860234425 1 0.992583430117213 NA NA 0.99046171656418 0.983778045373224 NA NA -0.00529485632975524 0.0162219546267756 NA 0.987119880968703 NA 0.00546354914851016 NA FALSE NA 0 -1.351 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA ACA C,G 8.236e-06 17:76162629 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 splice_region_variant 1.30401 0.21235 0.03346 0.078448 0.640271640038349 0.411241 0.000108022535284771 FALSE 4.10924e-06 ENSE00000949859_019 ENSE00000949859 019 17 74158589 74158758 - 44 72 54 G T 74158723 3123 36 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACATTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162641 76162642 76162642 upstr_intron -19 -0.333333333333333 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACATTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 600 1596 1 0.999398191774621 0.99969909588731 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00953828343581953 0.0156201464013965 NA 0.987119880968703 NA 0.012579214918608 NA FALSE NA 0.015 0.191 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 1 NA AGG G,T 8.236e-06 17:76162642 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 intron_variant 0.928262 0.25726 0.06336 0.078448 0.710022920179223 0.171784 0.000108022535284771 FALSE NA ENSE00000949859_020 ENSE00000949859 020 17 74158589 74158758 - 44 72 54 G A 74158724 3124 35 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAATCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162642 76162643 76162643 upstr_intron -20 -0.351851851851852 TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAATCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 349 92 1 0.90466580335382 0.95233290167691 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00953828343581953 -0.0791122420194047 NA 0.987119880968703 NA -0.0347869792917926 NA FALSE NA 0.774 1.51 . upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 rs370472621 1 NA A:0.0009 A:0 GGT G,A 2.471e-05 17:76162643 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 intron_variant 1.585693 0.31353 0.08743 0.078448 0.763816695808186 0.186933 0.000108022535284771 FALSE 3.75526e-05 ENSE00000949859_022 ENSE00000949859 022 17 74158589 74158758 - 44 72 54 G A 74158736 3126 23 TCTTGTCTCTCAGTAGAGACAGTCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC 76162507 76162677 76162654 76162655 76162655 upstr_intron -32 -0.574074074074074 TCTTGTCTCTCAGTAGAGACAGTCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC TCTTGTCTCTCAGTAGAGACAGCCTGTCCTTGAACCTTTCTGTTTGCTGTTCAGGTAGACGGGGTCAGCTACCTCCTTCAGGAGATCTATGGAATTGAAAACAAGTACAACACACAAGATTCTAAGGTAAGTTTTACCCAAAATTCTGAATGTACTCTTTCCAGGAGGCC mutant NA NA NA NA NA 201 557 0.998971761658431 0.998412886104552 0.998692323881491 NA NA 0.99046171656418 0.983778045373224 NA NA 0.00851004509425013 0.0146348407313274 NA 0.987119880968703 NA 0.0115724429127887 NA FALSE NA 0.023 1.082 rs62090128 upstream_gene_variant MODIFIER RNF157 HGNC 29402 ENST00000592869 rs62090128 1 A:0.0391 A:0.0068 A:0.0403 NA A:0.001 A:0.1392 A:0.0184 A:0.0222 A:0.1228 GGC G,A 0.086 17:76162655 RNF157 HGNC Symbol protein_coding 97920 ENSG00000141576 ENSE00000949859 intron_variant 1.447146 0.22086 0.08284 0.078448 0.768975056604914 0.186933 0.000108022535284771 FALSE 0.0878408 ENSE00000950552_000 ENSE00000950552 000 17 36934527 36934696 - 60 39 71 NA NA NA NA NA CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 NA NA NA NA NA NA CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG natural 31 67 0.965924435987143 0.866256725719799 0.916090580853471 2184 3122 0.942510720694364 0.903874494375199 0.923192607534781 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 0 0 0 0 0.916090580853471 0.923192607534781 0 0 0 FALSE FALSE NA NA NA NA NA PIP4K2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIP4K2B NA NA NA ENSG00000276293 ENSE00003749292 NA NA NA NA NA NA NA 0.989205103584798 TRUE NA ENSE00000950552_001 ENSE00000950552 001 17 36934527 36934696 - 60 39 71 T C 36934538 1629 159 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACGACTCCTGTCGG 38778273 38778443 38778284 38778285 38778285 downstr_intron 49 1.83050847457627 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACGACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 262 263 1 0.995994826894325 0.997997413447162 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0574892793056364 0.0921203325191253 0.916090580853471 0.923192607534781 NA 0.0748048059123809 NA FALSE NA 0 0.505 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 1 NA TTG T,C 1.647e-05 17:38778285 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 intron_variant 0.157102 0.22049 0.17002 0.156188 0.606891550152697 0.105318 0.989205103584798 TRUE 8.12856e-06 ENSE00000950552_002 ENSE00000950552 002 17 36934527 36934696 - 60 39 71 G A 36934545 1630 152 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTTAGAAACAACTCCTGTCGG 38778273 38778443 38778291 38778292 38778292 downstr_intron 42 1.71186440677966 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTTAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 408 342 0.991631689875626 0.958537056649708 0.975084373262667 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.049120969181262 0.0546625622745093 0.916090580853471 0.923192607534781 NA 0.0518917657278856 NA FALSE NA 0 -0.014 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 1 NA TGA G,A 8.236e-06 17:38778292 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 intron_variant 0.214436 0.1663 0.11856 0.156188 0.770835113618287 0.143794 0.989205103584798 TRUE 4.06352e-06 ENSE00000950552_003 ENSE00000950552 003 17 36934527 36934696 - 60 39 71 C T 36934547 1631 150 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAATCAGAAACAACTCCTGTCGG 38778273 38778443 38778293 38778294 38778294 downstr_intron 40 1.67796610169492 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAATCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 786 1047 0.999737915891657 0.999848917677955 0.999793416784806 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0572271951972934 0.0959744233027563 0.916090580853471 0.923192607534781 NA 0.0766008092500248 NA FALSE NA 0 -1.026 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 1 NA ACT C,T 1.647e-05 17:38778294 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 intron_variant 0.367169 0.1203 0.00124 0.156188 0.771950929435748 0.143794 0.989205103584798 TRUE 1.21896e-05 ENSE00000950552_004 ENSE00000950552 004 17 36934527 36934696 - 60 39 71 G C 36934555 1632 142 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTGGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778301 38778302 38778302 downstr_intron 32 1.54237288135593 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTGGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 754 247 0.997961350647096 0.836983232815881 0.917472291731489 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0554506299527324 -0.0668912615593178 0.916090580853471 0.923192607534781 NA -0.00572031580329269 NA FALSE NA 0 -0.816 NA NA NA PIP4K2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:38778302 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 intron_variant -0.50128 0.09669 0.06767 0.099367 0.564987199668524 0.143794 0.989205103584798 TRUE 0.000146243 ENSE00000950552_009 ENSE00000950552 009 17 36934527 36934696 - 60 39 71 A G 36934580 1637 117 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCCGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778326 38778327 38778327 downstr_intron 7 1.11864406779661 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCCGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant 11 17 0.970660027904135 0.979613904252383 0.975136966078259 163 2613 1 0.986003803925016 0.993001901962508 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 0.0047355919169928 0.113357178532584 0.0574892793056364 0.0821293095498168 0.916090580853471 0.923192607534781 0.0590463852247884 0.0698092944277266 0.0107629092029382 FALSE FALSE 0.009 1.308 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 1 NA CAG A,G 8.236e-06 17:38778327 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 splice_region_variant 1.605085 0.53823 0.26925 0.156188 0.83751921277669 0.29483 0.989205103584798 TRUE 4.06111e-06 ENSE00000950552_010 ENSE00000950552 010 17 36934527 36934696 - 60 39 71 C T 36934598 1638 99 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCAACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778344 38778345 38778345 exon -12 0.717948717948718 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCAACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 248 1246 1 0.915914617395962 0.957957308697981 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0574892793056364 0.0120401230207633 0.916090580853471 0.923192607534781 NA 0.0347647011631999 NA FALSE NA 1 7.11 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 1 NA TCG C,T 8.236e-06 17:38778345 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 missense_variant 4.879648 0.99267 0.99507 0.706548 0.998363187960707 0 0.989205103584798 TRUE 4.06114e-06 ENSE00000950552_011 ENSE00000950552 011 17 36934527 36934696 - 60 39 71 G A 36934599 1639 98 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGTGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778345 38778346 38778346 exon -13 0.692307692307692 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGTGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 661 351 1 0.962148918883038 0.981074459441519 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0574892793056364 0.0582744245078385 0.916090580853471 0.923192607534781 NA 0.0578818519067374 NA FALSE NA 0.708 -0.003 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 COSM978489 1 NA CGC G,A 3.295e-05 17:38778346 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 synonymous_variant 1.91021 0.93423 0.47867 0.706548 0.830213718171067 0 0.989205103584798 TRUE 5.68588e-05 ENSE00000950552_012 ENSE00000950552 012 17 36934527 36934696 - 60 39 71 C T 36934602 1640 95 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCAAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778348 38778349 38778349 exon -16 0.615384615384615 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCAAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 227 14 1 1 1 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0574892793056364 0.0961255056248008 0.916090580853471 0.923192607534781 NA 0.0768073924652186 NA FALSE NA 0 -4.645 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:38778349 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 synonymous_variant 2.703104 0.76589 0.06105 0.706548 0.800162903073076 0 0.989205103584798 TRUE 1.21836e-05 ENSE00000950552_013 ENSE00000950552 013 17 36934527 36934696 - 60 39 71 C G 36934602 1641 95 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCCAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778348 38778349 38778349 exon -16 0.615384615384615 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCCAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 604 142 0.838684340141555 1 0.919342170070777 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA -0.103826380552809 0.0961255056248008 0.916090580853471 0.923192607534781 NA -0.00385043746400404 NA FALSE NA 0 -4.645 NA NA NA PIP4K2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIP4K2B NA NA NA ENSG00000276293 ENSE00003749292 synonymous_variant 2.245838 0.77969 0.06356 0.706548 0.722593187323348 0 0.989205103584798 TRUE 8.12242e-06 ENSE00000950552_014 ENSE00000950552 014 17 36934527 36934696 - 60 39 71 T C 36934605 1642 92 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAGGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778351 38778352 38778352 exon -19 0.538461538461538 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAGGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 285 16 1 1 1 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0574892793056364 0.0961255056248008 0.916090580853471 0.923192607534781 NA 0.0768073924652186 NA FALSE NA 1 3.402 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 1 NA CTT T,C 8.236e-06 17:38778352 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 synonymous_variant 0.533159 0.97379 0.968 0.706548 0.636696953428672 0 0.989205103584798 TRUE 1.62446e-05 ENSE00000950552_015 ENSE00000950552 015 17 36934527 36934696 - 60 39 71 G T 36934638 1643 59 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTATTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778384 38778385 38778385 upstr_intron -13 -0.169014084507042 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTATTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 438 778 0.998486905227253 0.981135116194076 0.989811010710665 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0559761845328897 0.0772606218188771 0.916090580853471 0.923192607534781 NA 0.0666184031758834 NA FALSE NA 0.125 0.145 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 1 NA AGA G,T 8.236e-06 17:38778385 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 intron_variant 1.707927 0.3928 0.87476 0.099367 0.798676530106831 0.377776 0.989205103584798 TRUE 4.0623e-06 ENSE00000950552_018 ENSE00000950552 018 17 36934527 36934696 - 60 39 71 T C 36934644 1646 53 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGGTGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778390 38778391 38778391 upstr_intron -19 -0.253521126760563 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGGTGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 116 231 0.994672999349833 0.996978303952328 0.99582565165108 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0521622786554694 0.0931038095771285 0.916090580853471 0.923192607534781 NA 0.072633044116299 NA FALSE NA 0.031 1.882 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 rs372465523 1 NA C:0.0002 C:0 ATC T,C 8.236e-06 17:38778391 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 intron_variant 1.756133 0.36816 0.255 0.099367 0.833927412411211 0.373034 0.989205103584798 TRUE 8.12493e-06 ENSE00000950552_019 ENSE00000950552 019 17 36934527 36934696 - 60 39 71 G A 36934650 1647 47 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTTCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778396 38778397 38778397 upstr_intron -25 -0.338028169014085 CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTTCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 1015 293 0.997888234732323 0.985139774716562 0.991514004724442 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0553775140379593 0.0812652803413628 0.916090580853471 0.923192607534781 NA 0.0683213971896611 NA FALSE NA 0.1 0.214 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 rs370627100 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 17:38778397 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 intron_variant 1.29372 0.23029 0.10879 0.099367 0.899616428152225 0.247331 0.989205103584798 TRUE 4.06246e-06 ENSE00000950552_021 ENSE00000950552 021 17 36934527 36934696 - 60 39 71 G A 36934672 1649 25 CTCTCCCATGTTTGCTCATGCAGTTGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG 38778273 38778443 38778418 38778419 38778419 upstr_intron -47 -0.647887323943662 CTCTCCCATGTTTGCTCATGCAGTTGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG CTCTCCCATGTTTGCTCATGCAGTCGACTTTGCCTCAGCTTGACTTCCCCTGATGGCTCTTATCCTTTCAGGGTTCTACGGTTGCCAGAGAAGCGAGCGACAAGGAGAAGGTATGCTGGTGCTGAGCAGGAATGGAAGGGTCGCTTGGAGTCAGAAACAACTCCTGTCGG mutant NA NA NA NA NA 150 332 1 0.879486897405374 0.939743448702687 0.965924435987143 0.866256725719799 0.942510720694364 0.903874494375199 NA NA 0.0574892793056364 -0.0243875969698255 0.916090580853471 0.923192607534781 NA 0.0165508411679055 NA FALSE NA 0 0.344 . downstream_gene_variant MODIFIER PIP4K2B HGNC 8998 ENST00000581097 1 NA CGA G,A 2.471e-05 17:38778419 PIP4K2B HGNC Symbol protein_coding 34437 ENSG00000276293 ENSE00003749292 intron_variant 0.194622 0.23366 0.06692 0.099367 0.833047414826014 0.046323 0.989205103584798 TRUE 2.84652e-05 ENSE00000950643_000 ENSE00000950643 000 17 37901098 37901267 + 41 99 30 NA NA NA NA NA TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 NA NA NA NA NA NA TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG natural 72 26 0.995755696527463 0.992052680072951 0.993904188300207 1561 1075 0.971120688277319 0.993515194244075 0.982317941260697 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 0 0 0 0 0.993904188300207 0.982317941260697 0 0 0 FALSE FALSE NA NA NA NA NA GRB7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRB7 NA NA NA ENSG00000141738 ENSE00000950643 NA NA NA NA NA NA NA 0.000820005745088645 FALSE NA ENSE00000950643_003 ENSE00000950643 003 17 37901098 37901267 + 41 99 30 T A 37901125 1709 28 CAGCCCCCCATGCCACTCCCAGGGTCTCACCTTGAAGAGGCGGAAGGCAGCCAGCCAGCAGGTGCGGCTCTGCTCATCTTCACTGCAGAAGATCCGAAGCCCCTTGTGGCCATTTCGAAGCTTGTTGGGCTGCAGAGAGAGGTAATTGACTGGTCCCATATCTGCCTTTA 39744844 39745014 39744871 39744872 39744872 upstr_intron -14 -0.317073170731707 TAAAGGCAGATATGGGACCAGTCAATTACCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 706 420 0.971523790808097 0.995299624132451 0.983411707470274 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.00040310253077791 0.00178442988837524 0.993904188300207 0.982317941260697 NA 0.00109376620957657 NA FALSE NA 0.986 2.815 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA TTC T,A 8.237e-06 17:39744872 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 intron_variant 0.66803 0.80289 0.91864 0.069865 0.653736251935245 0.257995 0.000820005745088645 FALSE 4.06445e-06 ENSE00000950643_004 ENSE00000950643 004 17 37901098 37901267 + 41 99 30 C G 37901139 1710 42 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGGCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744885 39744886 39744886 exon 1 0.0101010101010101 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGGCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 29 209 1 0.992965215292048 0.996482607646024 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0288793117226808 -0.00054997895202713 0.993904188300207 0.982317941260697 NA 0.0141646663853268 NA FALSE NA 1 3.62 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA GCC C,G 8.237e-06 17:39744886 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 5.10542 0.96293 0.95292 0.67177 0.995639260907671 0 0.000820005745088645 FALSE 4.06355e-06 ENSE00000950643_007 ENSE00000950643 007 17 37901098 37901267 + 41 99 30 A G 37901164 1713 67 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAGGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744910 39744911 39744911 exon 26 0.262626262626263 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAGGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 308 187 0.989910708661908 0.989473500018855 0.989692104340381 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0187900203845891 -0.00404169422522083 0.993904188300207 0.982317941260697 NA 0.00737416307968414 NA FALSE NA 1 5.811 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA AAG A,G 8.236e-06 17:39744911 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 4.72145 0.96766 0.90845 0.67177 0.997234269161204 0 0.000820005745088645 FALSE 8.12638e-06 ENSE00000950643_009 ENSE00000950643 009 17 37901098 37901267 + 41 99 30 G T 37901168 1715 71 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGTCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744914 39744915 39744915 exon 30 0.303030303030303 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGTCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 129 82 1 0.950798062030593 0.975399031015297 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0288793117226808 -0.0427171322134821 0.993904188300207 0.982317941260697 NA -0.00691891024540064 NA FALSE NA 0.126 -0.213 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA GGC G,T 8.236e-06 17:39744915 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 synonymous_variant 1.058699 0.9243 0.77545 0.67177 0.664732765762885 0 0.000820005745088645 FALSE NA ENSE00000950643_010 ENSE00000950643 010 17 37901098 37901267 + 41 99 30 C T 37901172 1716 75 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTTGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744918 39744919 39744919 exon 34 0.343434343434343 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTTGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 46 983 0.951314477591088 1 0.975657238795544 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA -0.0198062106862308 0.00648480575592458 0.993904188300207 0.982317941260697 NA -0.0066607024651531 NA FALSE NA 0.998 2.862 rs144470339 downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 rs144470339 1 T:0.0012 T:0.0045 T:0 NA T:0 T:0 T:0 T:0.0039 T:0 TCG C,T 0.0005024 17:39744919 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 6.763927 0.88218 0.80795 0.67177 0.998663358235455 0 0.000820005745088645 FALSE 0.000394162 ENSE00000950643_012 ENSE00000950643 012 17 37901098 37901267 + 41 99 30 A C 37901175 1718 78 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGCTCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744921 39744922 39744922 exon 37 0.373737373737374 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGCTCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant 16 45 1 0.998914819779935 0.999457409889968 NA NA NA NA NA 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 0.00424430347253713 0.00686213970698379 NA NA 0.993904188300207 0.982317941260697 0.00555322158976046 NA NA NA FALSE 0.01 -0.201 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA GAT A,C 8.236e-06 17:39744922 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant -0.499273 0.37452 0.17858 0.67177 0.514089066240617 0 0.000820005745088645 FALSE 4.06339e-06 ENSE00000950643_014 ENSE00000950643 014 17 37901098 37901267 + 41 99 30 G C 37901185 1720 88 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCACTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744931 39744932 39744932 exon 47 0.474747474747475 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCACTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 98 82 0.994849232527609 1 0.997424616263804 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0237285442502896 0.00648480575592458 0.993904188300207 0.982317941260697 NA 0.0151066750031071 NA FALSE NA 1 4.483 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 rs201592849 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 AGT G,C 4.942e-05 17:39744932 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 2.455631 0.94688 0.83988 0.67177 0.96477685853384 0 0.000820005745088645 FALSE 3.65753e-05 ENSE00000950643_015 ENSE00000950643 015 17 37901098 37901267 + 41 99 30 A G 37901199 1721 102 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGGGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744945 39744946 39744946 exon -39 0.616161616161616 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGGGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant 30 26 1 1 1 NA NA NA NA NA 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 0.00424430347253713 0.00794731992704856 NA NA 0.993904188300207 0.982317941260697 0.00609581169979284 NA NA NA FALSE 1 5.117 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA GAG A,G 5.766e-05 17:39744946 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 2.440567 0.95296 0.93084 0.67177 0.993274597882294 0 0.000820005745088645 FALSE 4.87928e-05 ENSE00000950643_016 ENSE00000950643 016 17 37901098 37901267 + 41 99 30 C T 37901202 1722 105 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCTGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744948 39744949 39744949 exon -36 0.646464646464647 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCTGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 158 142 1 0.907303428464605 0.953651714232303 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0288793117226808 -0.0862117657794703 0.993904188300207 0.982317941260697 NA -0.0286662270283948 NA FALSE NA 0.594 0.741 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 rs199623806 1 NA T:0 T:0.0001 CCG C,T 0.0002142 17:39744949 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 7.658134 0.96098 0.65302 0.67177 0.999318174324511 0 0.000820005745088645 FALSE 0.000183006 ENSE00000950643_017 ENSE00000950643 017 17 37901098 37901267 + 41 99 30 G A 37901203 1723 106 CAGCCCCCCATGCCACTCCCAGGGTCTCACCTTGAAGAGGCGGAAGGCAGCCAGCCAGCAGGTGTGGCTCTGCTCATCTTCACTGCAGAAGATCCGAAGCCCCTTGTGGCCATTTCGAAGCTTGTTGGGCTGCAGAGAGAGGAAATTGACTGGTCCCATATCTGCCTTTA 39744844 39745014 39744949 39744950 39744950 exon -35 0.656565656565657 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCACACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant 21 10 0.961437830531868 1 0.980718915265934 239 296 1 0.999465326166631 0.999732663083316 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 -0.0343178659955948 0.00794731992704856 0.0288793117226808 0.005950131922556 0.993904188300207 0.982317941260697 -0.0131852730342731 0.0174147218226184 0.0305999948568915 FALSE FALSE 0.998 9.49 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 rs200773858 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 CGC G,A 3.295e-05 17:39744950 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 7.106733 0.97386 0.98868 0.67177 0.999461117050319 0 0.000820005745088645 FALSE 3.66187e-05 ENSE00000950643_019 ENSE00000950643 019 17 37901098 37901267 + 41 99 30 G T 37901212 1725 115 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTTGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744958 39744959 39744959 exon -26 0.747474747474748 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTTGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 126 343 1 0.99555205378206 0.99777602689103 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0288793117226808 0.00203685953798471 0.993904188300207 0.982317941260697 NA 0.0154580856303327 NA FALSE NA 1 9.555 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA TGG G,T 8.237e-06 17:39744959 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 6.940252 0.97484 0.99067 0.67177 0.987876758571905 0 0.000820005745088645 FALSE 4.06928e-06 ENSE00000950643_021 ENSE00000950643 021 17 37901098 37901267 + 41 99 30 C A 37901218 1727 121 CAGCCCCCCATGCCACTCCCAGGGTCTCACCTTGAAGAGGCGGAAGGCATCCAGCCAGCAGGTGCGGCTCTGCTCATCTTCACTGCAGAAGATCCGAAGCCCCTTGTGGCCATTTCGAAGCTTGTTGGGCTGCAGAGAGAGGAAATTGACTGGTCCCATATCTGCCTTTA 39744844 39745014 39744964 39744965 39744965 exon -20 0.808080808080808 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGATGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 31 785 1 0.998581568789685 0.999290784394842 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0288793117226808 0.00506637454560921 0.993904188300207 0.982317941260697 NA 0.016972843134145 NA FALSE NA 1 3.863 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA GCT C,A 8.237e-06 17:39744965 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 7.147062 0.97459 0.92447 0.67177 0.997140429694452 0 0.000820005745088645 FALSE 4.07402e-06 ENSE00000950643_022 ENSE00000950643 022 17 37901098 37901267 + 41 99 30 C T 37901226 1728 129 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCTGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 39744972 39744973 39744973 exon -12 0.888888888888889 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCTGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 64 24 1 1 1 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0288793117226808 0.00648480575592458 0.993904188300207 0.982317941260697 NA 0.0176820587393027 NA FALSE NA 0.997 2.763 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA CCG C,T 2.471e-05 17:39744973 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 missense_variant 8.071369 0.94527 0.9348 0.67177 0.999397452571721 0 0.000820005745088645 FALSE 2.03882e-05 ENSE00000950643_024 ENSE00000950643 024 17 37901098 37901267 + 41 99 30 A C 37901251 1730 154 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGCGTGGCATGGGGGGCTG 39744844 39745014 39744997 39744998 39744998 downstr_intron 14 1.48275862068966 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGCGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 67 65 1 1 1 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0288793117226808 0.00648480575592458 0.993904188300207 0.982317941260697 NA 0.0176820587393027 NA FALSE NA 0 -1.86 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA GAG A,C 8.238e-06 17:39744998 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 intron_variant 0.355538 0.22647 0.10642 0.069865 0.691083943962571 0.0853928 0.000820005745088645 FALSE 4.12797e-06 ENSE00000950643_025 ENSE00000950643 025 17 37901098 37901267 + 41 99 30 C T 37901256 1731 159 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGTATGGGGGGCTG 39744844 39745014 39745002 39745003 39745003 downstr_intron 19 1.6551724137931 TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGTATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG mutant NA NA NA NA NA 353 311 1 0.995985535986034 0.997992767993017 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 NA NA 0.0288793117226808 0.00247034174195859 0.993904188300207 0.982317941260697 NA 0.0156748267323197 NA FALSE NA 0.001 0.076 . downstream_gene_variant MODIFIER GRB7 HGNC 4567 ENST00000578702 1 NA GCA C,T 1.648e-05 17:39745003 GRB7 HGNC Symbol protein_coding 9364 ENSG00000141738 ENSE00000950643 intron_variant 0.427001 0.18541 0.08231 0.069865 0.594920306139024 0.0614026 0.000820005745088645 FALSE 8.31774e-06 ENSE00000950643_BRK ENSE00000950643 BRK 17 37901098 37901267 + 41 99 30 A,G; T,T NA NA NA TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCTTCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGCCGAGACCCTGGGAGTGGCATGGGGGGCTG 39744844 39745014 NA NA NA NA NA NA TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCTTCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGCCGAGACCCTGGGAGTGGCATGGGGGGCTG TAAAGGCAGATATGGGACCAGTCAATTTCCTCTCTCTGCAGCCCAACAAGCTTCGAAATGGCCACAAGGGGCTTCGGATCTTCTGCAGTGAAGATGAGCAGAGCCGCACCTGCTGGCTGGCTGCCTTCCGCCTCTTCAAGGTGAGACCCTGGGAGTGGCATGGGGGGCTG control 558 85 0 0 0 947 83 0 0.147578866339421 0.0737894331697105 0.995755696527463 0.992052680072951 0.971120688277319 0.993515194244075 -0.995755696527463 -0.992052680072951 -0.971120688277319 -0.845936327904654 0.993904188300207 0.982317941260697 -0.993904188300207 -0.908528508090987 0.0853756802092203 TRUE TRUE NA NA NA NA NA GRB7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRB7 NA NA NA ENSG00000141738 ENSE00000950643 NA NA NA NA NA NA NA 0.000820005745088645 FALSE NA ENSE00000951542_000 ENSE00000951542 000 19 6825008 6825177 + 56 69 45 NA NA NA NA NA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 NA NA NA NA NA NA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA natural 16 13 0.999461578903647 1 0.999730789451823 146 548 0.983190218212157 0.896868522752761 0.940029370482459 0.999461578903647 1 0.983190218212157 0.896868522752761 0 0 0 0 0.999730789451823 0.940029370482459 0 0 0 FALSE FALSE NA NA NA NA NA VAV1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV1 NA NA NA ENSG00000141968 ENSE00003529474 NA NA NA NA NA NA NA 0.999993062871965 TRUE NA ENSE00000951542_001 ENSE00000951542 001 19 6825008 6825177 + 56 69 45 C T 6825028 560 21 ACTGGTCTGGAGGAGGGAATTTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825016 6825017 6825017 upstr_intron -36 -0.625 ACTGGTCTGGAGGAGGGAATTTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 42 433 1 0.998491714110209 0.999245857055104 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0168097817878431 0.101623191357448 0.999730789451823 0.940029370482459 NA 0.0592164865726457 NA FALSE NA 0.005 0.44 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA TCT C,T 1.647e-05 19:6825017 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 intron_variant 0.512097 0.19988 0.04889 0.156188 0.743614344756989 0.111999 0.999993062871965 TRUE 1.21831e-05 ENSE00000951542_006 ENSE00000951542 006 19 6825008 6825177 + 56 69 45 C G 6825040 565 33 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTGATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825028 6825029 6825029 upstr_intron -24 -0.410714285714286 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTGATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 195 206 1 1 1 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0168097817878431 0.103131477247239 0.999730789451823 0.940029370482459 NA 0.0599706295175413 NA FALSE NA 0 0.533 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 rs200574586 1 NA TCA C,G 8.236e-06 19:6825029 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 intron_variant 0.038821 0.25149 0.09353 0.295142 0.380824878388881 0.126027 0.999993062871965 TRUE 1.62434e-05 ENSE00000951542_007 ENSE00000951542 007 19 6825008 6825177 + 56 69 45 C T 6825049 566 42 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTTTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825037 6825038 6825038 upstr_intron -15 -0.25 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTTTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 141 52 0.994012387489113 1 0.997006193744557 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0108221692769562 0.103131477247239 0.999730789451823 0.940029370482459 NA 0.0569768232620979 NA FALSE NA 0 -0.285 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA TCT C,T 8.236e-06 19:6825038 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 intron_variant 0.311778 0.23153 0.02339 0.295142 0.603228280678073 0.15162 0.999993062871965 TRUE 1.21826e-05 ENSE00000951542_008 ENSE00000951542 008 19 6825008 6825177 + 56 69 45 T G 6825054 567 47 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCGTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825042 6825043 6825043 upstr_intron -10 -0.160714285714286 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCGTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 29 658 1 1 1 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0168097817878431 0.103131477247239 0.999730789451823 0.940029370482459 NA 0.0599706295175413 NA FALSE NA 0 -0.004 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 rs200164438 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CTT T,G 5.765e-05 19:6825043 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 intron_variant 0.095226 0.24956 0.0908 0.295142 0.649900079561103 0.15162 0.999993062871965 TRUE 5.68509e-05 ENSE00000951542_010 ENSE00000951542 010 19 6825008 6825177 + 56 69 45 C G 6825059 569 52 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCGGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825047 6825048 6825048 upstr_intron -5 -0.0714285714285714 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCGGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 182 14 1 1 1 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0168097817878431 0.103131477247239 0.999730789451823 0.940029370482459 NA 0.0599706295175413 NA FALSE NA 0 0.071 NA NA NA VAV1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:6825048 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 splice_region_variant 0.148313 0.23427 0.09267 0.295142 0.763126340287571 0.15162 0.999993062871965 TRUE 4.06098e-06 ENSE00000951542_013 ENSE00000951542 013 19 6825008 6825177 + 56 69 45 C T 6825085 572 78 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAATGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825073 6825074 6825074 exon 22 0.318840579710145 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAATGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 716 82 0.999942509186988 0.998066388153464 0.999004448670226 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0167522909748309 0.101197865400703 0.999730789451823 0.940029370482459 NA 0.058975078187767 NA FALSE NA 0.002 0.32 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA ACG C,T 1.647e-05 19:6825074 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 missense_variant 6.730473 0.80184 0.15753 0.706548 0.998460564693957 0 0.999993062871965 TRUE 2.03072e-05 ENSE00000951542_014 ENSE00000951542 014 19 6825008 6825177 + 56 69 45 G A 6825086 573 79 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACAGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825074 6825075 6825075 exon 23 0.333333333333333 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACAGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 527 168 0.992344498034716 1 0.996172249017358 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.00915427982255934 0.103131477247239 0.999730789451823 0.940029370482459 NA 0.0561428785348994 NA FALSE NA 0.497 2.088 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 COSM1003065&COSM4082649&COSM4082648 1 NA CGG G,A 8.236e-06 19:6825075 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 missense_variant 4.970644 0.98127 0.73749 0.706548 0.999305206093347 0 0.999993062871965 TRUE 8.13054e-06 ENSE00000951542_023 ENSE00000951542 023 19 6825008 6825177 + 56 69 45 G A 6825140 582 133 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCAGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825128 6825129 6825129 downstr_intron 8 1.18181818181818 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCAGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 66 105 1 0.905057284039872 0.952528642019936 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0168097817878431 0.00818876128711155 0.999730789451823 0.940029370482459 NA 0.0124992715374773 NA FALSE NA 0 -2.18 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA CGG G,A 1.647e-05 19:6825129 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 splice_region_variant -0.032463 0.14524 0.01259 0.099367 0.608275023167251 0.137848 0.999993062871965 TRUE 8.18197e-06 ENSE00000951542_024 ENSE00000951542 024 19 6825008 6825177 + 56 69 45 G A 6825141 583 134 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGACCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825129 6825130 6825130 downstr_intron 9 1.20454545454545 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGACCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 182 387 1 0.997795579692463 0.998897789846231 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0168097817878431 0.100927056939702 0.999730789451823 0.940029370482459 NA 0.0588684193637726 NA FALSE NA 0 0.781 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 rs202083007 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGC G,A 8.236e-06 19:6825130 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 intron_variant 0.320942 0.20503 0.04166 0.099367 0.490479025920241 0.200019 0.999993062871965 TRUE 1.22757e-05 ENSE00000951542_026 ENSE00000951542 026 19 6825008 6825177 + 56 69 45 G A 6825144 585 137 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCAATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 6825132 6825133 6825133 downstr_intron 12 1.27272727272727 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCAATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 209 557 1 0.998612837026167 0.999306418513083 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA 0.0168097817878431 0.101744314273406 0.999730789451823 0.940029370482459 NA 0.0592770480306247 NA FALSE NA 0 -2.417 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA CGA G,A 3.295e-05 19:6825133 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 intron_variant 0.104261 0.0943 0.00593 0.099367 0.598830193506347 0.129022 0.999993062871965 TRUE 1.64272e-05 ENSE00000951542_029 ENSE00000951542 029 19 6825008 6825177 + 56 69 45 T G 6825165 588 158 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCGGTCTAGTGCGGA 6824996 6825166 6825153 6825154 6825154 downstr_intron 33 1.75 ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCGGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA mutant NA NA NA NA NA 21 72 0.890792378204505 1 0.945396189102253 0.999461578903647 1 0.983190218212157 0.896868522752761 NA NA -0.0923978400076516 0.103131477247239 0.999730789451823 0.940029370482459 NA 0.00536681861979393 NA FALSE NA 0 0.212 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA CTG T,G 8.237e-06 19:6825154 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00003529474 intron_variant 0.398693 0.42071 0.19181 0.099367 0.68440358423646 0.605383 0.999993062871965 TRUE 4.20002e-06 ENSE00000951542_BRK ENSE00000951542 BRK 19 6825008 6825177 + 56 69 45 A,G; T,T NA NA NA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCTTCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGCCGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA 6824996 6825166 NA NA NA NA NA NA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCTTCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGCCGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA ACTGGTCTGGAGGAGGGAATCTTATCTTCCGTCATCTTTCTCTCCCTTCCCCGCAGCATTTCTTGAAGCCCCTGCAACGGTTCCTGAAACCTCAAGACATTGAGATCATCTTTATCAACATTGAGGTGAGCCGGCCGATCCCCAGCCCTCTTGGGTCTGTCTAGTGCGGA control 60 123 0 0 0 274 5736 0.0327268133235204 0.00472330675900334 0.0187250600412619 0.999461578903647 1 0.983190218212157 0.896868522752761 -0.999461578903647 -1 -0.950463404888636 -0.892145215993757 0.999730789451823 0.940029370482459 -0.999730789451823 -0.921304310441197 0.0784264790106264 TRUE TRUE NA NA NA NA NA VAV1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV1 NA NA NA ENSG00000141968 ENSE00003529474 NA NA NA NA NA NA NA 0.999993062871965 TRUE NA ENSE00000951548_000 ENSE00000951548 000 19 6828374 6828543 + 56 69 45 NA NA NA NA NA GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 NA NA NA NA NA NA CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC natural 49 54 0.945142916353221 0.867114649017974 0.906128782685597 2253 792 0.995958551327998 0.999800260893651 0.997879406110824 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 0 0 0 0 0.906128782685597 0.997879406110824 0 0 0 FALSE FALSE NA NA NA NA NA VAV1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV1 NA NA NA ENSG00000141968 ENSE00000951548 NA NA NA NA NA NA NA 0.999993062871965 TRUE NA ENSE00000951548_002 ENSE00000951548 002 19 6828374 6828543 + 56 69 45 A G 6828386 591 13 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTCCTCCCTGCGGGG 6828362 6828532 6828374 6828375 6828375 upstr_intron -44 -0.767857142857143 CCCCGCAGGGAGGAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 306 141 0.995615261310162 0.987482200291714 0.991548730800938 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA -0.000343290017835951 -0.0123180606019369 0.906128782685597 0.997879406110824 NA -0.0063306753098864 NA FALSE NA 0 -0.995 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA GAA A,G 8.237e-06 19:6828375 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 non_coding_transcript_exon_variant -0.024184 0.13182 0.00644 0.256867 0.444225728690655 0.176255 0.999993062871965 TRUE 4.0804e-06 ENSE00000951548_003 ENSE00000951548 003 19 6828374 6828543 + 56 69 45 G A 6828391 592 18 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTTCCCTTCTCCCTGCGGGG 6828362 6828532 6828379 6828380 6828380 upstr_intron -39 -0.678571428571429 CCCCGCAGGGAGAAGGGAAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 31 551 1 1 1 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA 0.00404144867200196 0.000199739106349406 0.906128782685597 0.997879406110824 NA 0.00212059388917568 NA FALSE NA 0 0.865 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA GGA G,A 8.236e-06 19:6828380 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 non_coding_transcript_exon_variant 0.197608 0.27391 0.04671 0.256867 0.893851027318754 0.176255 0.999993062871965 TRUE 4.07458e-06 ENSE00000951548_004 ENSE00000951548 004 19 6828374 6828543 + 56 69 45 C A 6828397 593 24 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGTCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828385 6828386 6828386 upstr_intron -33 -0.571428571428571 CCCCGCAGGGAGAAGGGGAGGGGACCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 54 58 0.876877367216492 1 0.938438683608246 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA -0.119081184111506 0.000199739106349406 0.906128782685597 0.997879406110824 NA -0.0594407225025785 NA FALSE NA 0 -0.282 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA GCC C,A 4.118e-05 19:6828386 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 non_coding_transcript_exon_variant 0.682254 0.26291 0.06742 0.256867 0.879104752052568 0.224098 0.999993062871965 TRUE 1.22211e-05 ENSE00000951548_005 ENSE00000951548 005 19 6828374 6828543 + 56 69 45 G C 6828414 594 41 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGAGGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828402 6828403 6828403 upstr_intron -16 -0.267857142857143 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACCTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 128 1018 0.984156011584881 0.993640038068938 0.988898024826909 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA -0.0118025397431175 -0.0061602228247124 0.906128782685597 0.997879406110824 NA -0.00898138128391496 NA FALSE NA 0.001 -0.323 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA CGT G,C 1.647e-05 19:6828403 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 non_coding_transcript_exon_variant -0.038413 0.25972 0.02835 0.256867 0.645684778546862 0.294997 0.999993062871965 TRUE 2.03224e-05 ENSE00000951548_006 ENSE00000951548 006 19 6828374 6828543 + 56 69 45 T C 6828415 595 42 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGGCGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828403 6828404 6828404 upstr_intron -15 -0.25 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGCCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 61 45 1 1 1 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA 0.00404144867200196 0.000199739106349406 0.906128782685597 0.997879406110824 NA 0.00212059388917568 NA FALSE NA 0 0.317 . upstream_gene_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1 NA GTC T,C 2.471e-05 19:6828404 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 non_coding_transcript_exon_variant 0.14038 0.27091 0.0312 0.256867 0.499171943910502 0.223983 0.999993062871965 TRUE 8.1279e-06 ENSE00000951548_009 ENSE00000951548 009 19 6828374 6828543 + 56 69 45 A T 6828441 598 68 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGATTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828429 6828430 6828430 exon 12 0.173913043478261 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAATCACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 149 511 0.989551647316109 0.823305555257038 0.906428601286574 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA -0.00640690401188915 -0.176494705636612 0.906128782685597 0.997879406110824 NA -0.0914508048242508 NA FALSE NA 0.481 -0.258 NA NA NA VAV1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:6828430 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 missense_variant 4.381123 0.9125 0.629 0.67177 0.990125305161048 0 0.999993062871965 TRUE 4.06171e-06 ENSE00000951548_014 ENSE00000951548 014 19 6828374 6828543 + 56 69 45 A C 6828469 603 96 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTGCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828457 6828458 6828458 exon -30 0.579710144927536 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGCACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 281 308 0.998229185664848 1 0.999114592832424 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA 0.0022706343368496 0.000199739106349406 0.906128782685597 0.997879406110824 NA 0.0012351867215995 NA FALSE NA 0.99 3.856 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1/7 rs528297651 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GAA A,C 8.236e-06 19:6828458 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 missense_variant 4.419518 0.97226 0.77177 0.67177 0.995019798674582 0 0.999993062871965 TRUE 4.06131e-06 ENSE00000951548_016 ENSE00000951548 016 19 6828374 6828543 + 56 69 45 C T 6828472 605 99 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAAGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828460 6828461 6828461 exon -27 0.623188405797101 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACTTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 1782 939 0.997545449169667 0.999669048309321 0.998607248739494 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA 0.0015868978416691 -0.000131212584329909 0.906128782685597 0.997879406110824 NA 0.000727842628669595 NA FALSE NA 0.002 -0.144 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1/7 1 NA CCT C,T 8.236e-06 19:6828461 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 synonymous_variant 1.094974 0.79702 0.08988 0.67177 0.814471362734654 0 0.999993062871965 TRUE 4.06141e-06 ENSE00000951548_017 ENSE00000951548 017 19 6828374 6828543 + 56 69 45 T A 6828473 606 100 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCTGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828461 6828462 6828462 exon -26 0.63768115942029 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCAGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 250 557 0.995292888033491 0.998007217474155 0.996650052753823 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA -0.000665663294507457 -0.00179304341949549 0.906128782685597 0.997879406110824 NA -0.00122935335700147 NA FALSE NA 0.987 7.086 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1/7 1 NA CTG T,A 8.236e-06 19:6828462 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 missense_variant 5.829024 0.96952 0.97507 0.67177 0.995052722662826 0 0.999993062871965 TRUE 4.06141e-06 ENSE00000951548_018 ENSE00000951548 018 19 6828374 6828543 + 56 69 45 C A 6828478 607 105 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCATCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828466 6828467 6828467 exon -21 0.710144927536232 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGATGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 1238 59 0.992697201997943 1 0.996348600998971 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA -0.00326134933005506 0.000199739106349406 0.906128782685597 0.997879406110824 NA -0.00153080511185283 NA FALSE NA 0 -0.06 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1/7 1 NA GCT C,A 8.236e-06 19:6828467 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 missense_variant 2.009978 0.92266 0.28439 0.67177 0.948240018026942 0 0.999993062871965 TRUE 4.06134e-06 ENSE00000951548_019 ENSE00000951548 019 19 6828374 6828543 + 56 69 45 G T 6828481 608 108 GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGACAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828469 6828470 6828470 exon -18 0.753623188405797 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGTCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 187 51 1 1 1 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA 0.00404144867200196 0.000199739106349406 0.906128782685597 0.997879406110824 NA 0.00212059388917568 NA FALSE NA 1 4.702 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1/7 1 NA GGC G,T 8.236e-06 19:6828470 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 missense_variant 4.19987 0.95439 0.8898 0.67177 0.992725300399943 0 0.999993062871965 TRUE 4.06161e-06 ENSE00000951548_021 ENSE00000951548 021 19 6828374 6828543 + 56 69 45 G A 6828514 610 141 GGGTGTCTGCAGCAGGTGAGTCACCAGCATCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828502 6828503 6828503 downstr_intron 16 1.36363636363636 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGATGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 821 648 0.959819823510647 0.995590019058705 0.977704921284676 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA -0.0361387278173513 -0.00421024183494578 0.906128782685597 0.997879406110824 NA -0.0201744848261485 NA FALSE NA 0 -2.463 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1/7 1 NA GGT G,A 1.647e-05 19:6828503 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 non_coding_transcript_exon_variant 0.26573 0.20711 0.02322 0.115753 0.701731330236701 0.118782 0.999993062871965 TRUE 1.21983e-05 ENSE00000951548_022 ENSE00000951548 022 19 6828374 6828543 + 56 69 45 C T 6828528 611 155 GGGTGTCTGCAGCAGATGAGTCACCAGCACCCTACACCCACTCACCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCCTGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 6828516 6828517 6828517 downstr_intron 30 1.68181818181818 CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCATCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC mutant NA NA NA NA NA 41 61 1 0.937139884242542 0.968569942121271 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 NA NA 0.00404144867200196 -0.062660376651109 0.906128782685597 0.997879406110824 NA -0.0293094639895535 NA FALSE NA 0.002 0.37 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VAV1 HGNC 12657 ENST00000601452 1/7 1 NA ACC C,T 1.647e-05 19:6828517 VAV1 HGNC Symbol protein_coding 84652 ENSG00000141968 ENSE00000951548 non_coding_transcript_exon_variant 0.492537 0.23236 0.03127 0.115753 0.783307633329503 0.143661 0.999993062871965 TRUE 1.22101e-05 ENSE00000951548_BRK ENSE00000951548 BRK 19 6828374 6828543 + 56 69 45 A,G; T,T NA NA NA GGGTGTCTGCAGCAGGTGAGTCACCAGCACCCTACACCCACTCGGCCTCATGGCATCCAGGGCCAGCCGCAGGTTCTCCTTCTCCATCGCCTCCTGCGTGTGTTTCACCAGCTCAAGAGAGAACCAAGACGTCAGACGTCACCTGGGCCCCTCCCCTTCTCCCTGCGGGG 6828362 6828532 NA NA NA NA NA NA CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCTTGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGCCGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC CCCCGCAGGGAGAAGGGGAGGGGCCCAGGTGACGTCTGACGTCTTGGTTCTCTCAGGAGCTGGTGAAACACACGCAGGAGGCGATGGAGAAGGAGAACCTGCGGCTGGCCCTGGATGCCATGAGGGTGAGTGGGTGTAGGGTGCTGGTGACTCACCTGCTGCAGACACCC control 29 70 0 0 0 62 1412 0 0.00227382268114041 0.00113691134057021 0.945142916353221 0.867114649017974 0.995958551327998 0.999800260893651 -0.945142916353221 -0.867114649017974 -0.995958551327998 -0.99752643821251 0.906128782685597 0.997879406110824 -0.906128782685597 -0.996742494770254 0.0906137120846569 TRUE TRUE NA NA NA NA NA VAV1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV1 NA NA NA ENSG00000141968 ENSE00000951548 NA NA NA NA NA NA NA 0.999993062871965 TRUE NA ENSE00000951617_000 ENSE00000951617 000 19 16591392 16591561 - 33 93 44 NA NA NA NA NA TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 NA NA NA NA NA NA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA natural 67 35 0.956737326167272 0.988406083668089 0.972571704917681 3708 4368 0.95403716697757 0.994502765532445 0.974269966255008 0.956737326167272 0.988406083668089 0.95403716697757 0.994502765532445 0 0 0 0 0.972571704917681 0.974269966255008 0 0 0 FALSE FALSE NA NA NA NA NA CALR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALR3 NA NA NA ENSG00000269058 ENSE00003539560 NA NA NA NA NA NA NA 8.79344302331144e-08 FALSE NA ENSE00000952268_000 ENSE00000952268 000 19 17169574 17169743 - 47 66 57 NA NA NA NA NA AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC 17058763 17058933 NA NA NA NA NA NA AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC natural 48 52 0.994772612750644 0.928913935967825 0.961843274359234 1638 797 0.933442588124505 0.993513942929552 0.963478265527028 0.994772612750644 0.928913935967825 0.933442588124505 0.993513942929552 0 0 0 0 0.961843274359234 0.963478265527028 0 0 0 FALSE FALSE NA NA NA NA NA CTD-2528A14.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HAUS8 NA NA NA ENSG00000131351 ENSE00003511247 NA NA NA NA NA NA NA 0.000726405158492587 FALSE NA ENSE00000952268_005 ENSE00000952268 005 19 17169574 17169743 - 47 66 57 C T 17169604 1561 140 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTATTCACGTATGCCATGGATGGAAGGGTGGCC 17058763 17058933 17058793 17058794 17058794 downstr_intron 17 1.3695652173913 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTATTCACGTATGCCATGGATGGAAGGGTGGCC AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC mutant NA NA NA NA NA 43 31 1 1 1 0.994772612750644 0.928913935967825 0.933442588124505 0.993513942929552 NA NA 0.0665574118754955 0.00648605707044769 0.961843274359234 0.963478265527028 NA 0.0365217344729716 NA FALSE NA 0 -1.717 . downstream_gene_variant MODIFIER CTD-2528A14.3 Clone_based_vega_gene NA ENST00000598893 rs550206542 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACA C,T 1.647e-05 19:17058794 HAUS8 HGNC Symbol protein_coding 25896 ENSG00000131351 ENSE00003511247 intron_variant 0.109468 0.14204 0.0297 0.156188 0.326493515317898 0.134307 0.000726405158492587 FALSE 8.20035e-06 ENSE00000952268_009 ENSE00000952268 009 19 17169574 17169743 - 47 66 57 T C 17169630 1565 114 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTGTCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC 17058763 17058933 17058819 17058820 17058820 exon -10 0.863636363636364 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTGTCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC mutant NA NA NA NA NA 147 24 1 1 1 0.994772612750644 0.928913935967825 0.933442588124505 0.993513942929552 NA NA 0.0665574118754955 0.00648605707044769 0.961843274359234 0.963478265527028 NA 0.0365217344729716 NA FALSE NA 0.025 -0.063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:17058820 HAUS8 HGNC Symbol protein_coding 25896 ENSG00000131351 ENSE00003511247 synonymous_variant -0.731268 0.13622 0.00233 0.706548 0.338615713247757 0 0.000726405158492587 FALSE 0.00768297 ENSE00000952268_010 ENSE00000952268 010 19 17169574 17169743 - 47 66 57 T G 17169630 1566 114 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTCTCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC 17058763 17058933 17058819 17058820 17058820 exon -10 0.863636363636364 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTCTCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC mutant NA NA NA NA NA 1716 75 0.997574742372628 0.997885412812295 0.997730077592462 0.994772612750644 0.928913935967825 0.933442588124505 0.993513942929552 NA NA 0.0641321542481238 0.00437146988274262 0.961843274359234 0.963478265527028 NA 0.0342518120654332 NA FALSE NA 0.025 -0.063 NA NA NA CTD-2528A14.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HAUS8 NA NA NA ENSG00000131351 ENSE00003511247 synonymous_variant -0.252567 0.19588 0.03134 0.706548 0.346051480433307 0 0.000726405158492587 FALSE 4.07368e-06 ENSE00000952268_014 ENSE00000952268 014 19 17169574 17169743 - 47 66 57 T A 17169662 1570 82 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGTTGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC 17058763 17058933 17058851 17058852 17058852 exon 25 0.378787878787879 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGTTGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC mutant NA NA NA NA NA 13 217 1 1 1 0.994772612750644 0.928913935967825 0.933442588124505 0.993513942929552 NA NA 0.0665574118754955 0.00648605707044769 0.961843274359234 0.963478265527028 NA 0.0365217344729716 NA FALSE NA 0.998 0.002 . downstream_gene_variant MODIFIER CTD-2528A14.3 Clone_based_vega_gene NA ENST00000598893 1 NA ATC T,A 8.237e-06 19:17058852 HAUS8 HGNC Symbol protein_coding 25896 ENSG00000131351 ENSE00003511247 missense_variant 1.968844 0.9715 0.73392 0.706548 0.864218353774973 0 0.000726405158492587 FALSE 4.08163e-06 ENSE00000952268_016 ENSE00000952268 016 19 17169574 17169743 - 47 66 57 T G 17169671 1572 73 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCACTGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC 17058763 17058933 17058860 17058861 17058861 exon 16 0.242424242424242 AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCACTGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC mutant NA NA NA NA NA 1191 68 0.90420070167303 0.997667062836956 0.950933882254993 0.994772612750644 0.928913935967825 0.933442588124505 0.993513942929552 NA NA -0.0292418864514741 0.00415311990740352 0.961843274359234 0.963478265527028 NA -0.0125443832720353 NA FALSE NA 0.986 3.676 NA NA NA CTD-2528A14.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:17058861 HAUS8 HGNC Symbol protein_coding 25896 ENSG00000131351 ENSE00003511247 missense_variant 1.610983 0.97401 0.93513 0.706548 0.655736760730059 0 0.000726405158492587 FALSE 4.09329e-06 ENSE00000952268_019 ENSE00000952268 019 19 17169574 17169743 - 47 66 57 C T 17169711 1575 33 AGAGCTGGATTTATACCACTTCATCAGGAATTAAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC 17058763 17058933 17058900 17058901 17058901 upstr_intron -25 -0.421052631578947 AGAGCTGGATTTATACCACTTCATCAGGAATTAAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC mutant NA NA NA NA NA 110 28 0.981587747656063 1 0.990793873828031 0.994772612750644 0.928913935967825 0.933442588124505 0.993513942929552 NA NA 0.0481451595315582 0.00648605707044769 0.961843274359234 0.963478265527028 NA 0.0273156083010029 NA FALSE NA 0 -1.215 . downstream_gene_variant MODIFIER CTD-2528A14.3 Clone_based_vega_gene NA ENST00000598893 1 NA TCA C,T 8.237e-06 19:17058901 HAUS8 HGNC Symbol protein_coding 25896 ENSG00000131351 ENSE00003511247 intron_variant 0.082111 0.13205 0.00313 0.099367 0.453338885513882 0.0862078 0.000726405158492587 FALSE 4.31686e-06 ENSE00000952268_BRK ENSE00000952268 BRK 19 17169574 17169743 - 47 66 57 A,G; T,T NA NA NA AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTATTGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGCCGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC 17058763 17058933 NA NA NA NA NA NA AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTATTGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGCCGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC AGAGCTGGATTTATACCACTTCATCAGGAATTGAGAGGGTCTTTTTCTTTTCTTAAGGATTTATCTGAAGCAATGGAAATGATGGAGTCTCAGACACTACTGCTGACGCTACTATCCGTAAAGGTGAAAACAGTTTCTTGTTCACGTATGCCATGGATGGAAGGGTGGCC control 240 734 0 0 0 NA NA NA NA NA 0.994772612750644 0.928913935967825 0.933442588124505 0.993513942929552 -0.994772612750644 -0.928913935967825 NA NA 0.961843274359234 0.963478265527028 -0.961843274359234 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HAUS8 NA NA NA ENSG00000131351 ENSE00003511247 NA NA NA NA NA NA NA 0.000726405158492587 FALSE NA ENSE00000954170_000 ENSE00000954170 000 19 11144748 11144917 + 51 78 41 NA NA NA NA NA GTGGGATGCCTGAACTGCCCCATCCAGCCTGCAGCGCTTACCATGAACAGATCAAACTCCTCCTCGTGCCGGGCGATCATCTGGTTGACGGTCTCGTCGTCGGGCACCTCGTCTTCCTCCTATAAGATTGCAAACTGTCAGTGCCGCTGAGGAGGGGCCGGGGTGGGCGG 11034071 11034241 NA NA NA NA NA NA CCGCCCACCCCGGCCCCTCCTCAGCGGCACTGACAGTTTGCAATCTTATAGGAGGAAGACGAGGTGCCCGACGACGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATGGTAAGCGCTGCAGGCTGGATGGGGCAGTTCAGGCATCCCAC CCGCCCACCCCGGCCCCTCCTCAGCGGCACTGACAGTTTGCAATCTTATAGGAGGAAGACGAGGTGCCCGACGACGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATGGTAAGCGCTGCAGGCTGGATGGGGCAGTTCAGGCATCCCAC natural NA NA NA NA NA 17 11 0.997553760270159 1 0.998776880135079 NA NA 0.997553760270159 1 NA NA 0 0 NA 0.998776880135079 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003703701 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00000954358_000 ENSE00000954358 000 19 7995969 7996138 - 54 51 65 NA NA NA NA NA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 NA NA NA NA NA NA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA natural 88 191 0.824676418823974 0.860114944786721 0.842395681805347 1570 934 0.931835602549196 0.957884594224688 0.944860098386942 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 0 0 0 0 0.842395681805347 0.944860098386942 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TIMM44 NA NA NA ENSG00000104980 ENSE00003468427 NA NA NA NA NA NA NA 0.818201941811417 FALSE NA ENSE00000954358_004 ENSE00000954358 004 19 7995969 7996138 - 54 51 65 A T 7995995 636 144 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTATTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 7931109 7931110 7931110 downstr_intron 28 1.52830188679245 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTATTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA mutant NA NA NA NA NA 1600 658 0.992928190399372 0.968211358415629 0.980569774407501 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 NA NA 0.0610925878501765 0.0103267641909417 0.842395681805347 0.944860098386942 NA 0.0357096760205591 NA FALSE NA 0.006 -0.03 NA NA NA CTD-3193O13.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:7931110 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003468427 intron_variant -0.465228 0.19459 0.03202 0.256867 0.642985389016074 0.165689 0.818201941811417 FALSE 8.25587e-06 ENSE00000954358_005 ENSE00000954358 005 19 7995969 7996138 - 54 51 65 A G 7995999 637 140 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTCTTTTTTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 7931113 7931114 7931114 downstr_intron 24 1.45283018867925 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTCTTTTTTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA mutant NA NA NA NA NA 45 34 0.991818792721933 0.996569762978585 0.994194277850259 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 NA NA 0.0599831901727373 0.0386851687538978 0.842395681805347 0.944860098386942 NA 0.0493341794633176 NA FALSE NA 0 -2.331 . downstream_gene_variant MODIFIER CTD-3193O13.8 Clone_based_vega_gene NA ENST00000594308 1 NA AAA A,G 1.649e-05 19:7931114 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003468427 intron_variant -0.221241 0.15755 0.01386 0.256867 0.104610513405996 0.165689 0.818201941811417 FALSE NA ENSE00000954358_006 ENSE00000954358 006 19 7995969 7996138 - 54 51 65 A C 7996037 638 102 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACGGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 7931151 7931152 7931152 exon -15 0.725490196078431 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACGGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA mutant NA NA NA NA NA 113 36 0.991841714506806 0.996764202126965 0.994302958316885 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 NA NA 0.0600061119576103 0.038879607902277 0.842395681805347 0.944860098386942 NA 0.0494428599299436 NA FALSE NA 1 6.749 rs144545927 downstream_gene_variant MODIFIER CTD-3193O13.8 Clone_based_vega_gene NA ENST00000594308 rs144545927 1 NA C:0.0002 C:0 CAG A,C 8.236e-06 19:7931152 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003468427 missense_variant 6.172214 0.96732 0.98236 0.706548 0.975760935388376 0 0.818201941811417 FALSE 4.06108e-06 ENSE00000954358_008 ENSE00000954358 008 19 7995969 7996138 - 54 51 65 T C 7996049 640 90 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACGTTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 7931163 7931164 7931164 exon 25 0.490196078431373 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACGTTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA mutant NA NA NA NA NA 15 93 0.928422902500608 0.801553103157064 0.864988002828836 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 NA NA -0.00341270004858774 -0.156331491067624 0.842395681805347 0.944860098386942 NA -0.0798720955581058 NA FALSE NA 0.998 1.696 . downstream_gene_variant MODIFIER CTD-3193O13.8 Clone_based_vega_gene NA ENST00000594308 1 NA ATG T,C 8.236e-06 19:7931164 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003468427 missense_variant 1.401057 0.91092 0.68593 0.706548 0.96210645708305 0 0.818201941811417 FALSE 4.06081e-06 ENSE00000954358_009 ENSE00000954358 009 19 7995969 7996138 - 54 51 65 G A 7996071 641 68 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCTATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 7931185 7931186 7931186 exon 3 0.0588235294117647 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCTATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA mutant NA NA NA NA NA 72 77 0.984775338371113 0.969356162905914 0.977065750638514 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 NA NA 0.052939735821917 0.0114715686812268 0.842395681805347 0.944860098386942 NA 0.0322056522515719 NA FALSE NA 0.888 -0.142 rs139333938 downstream_gene_variant MODIFIER CTD-3193O13.8 Clone_based_vega_gene NA ENST00000594308 rs139333938 1 A:0.0020 A:0.0076 A:0 NA A:0 A:0 A:0 A:0.0075 A:0 TGG G,A 0.000733 19:7931186 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003468427 splice_region_variant 1.485346 0.88238 0.43715 0.706548 0.658390000970133 0 0.818201941811417 FALSE 0.000617214 ENSE00000954358_011 ENSE00000954358 011 19 7995969 7996138 - 54 51 65 C T 7996098 643 41 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGATGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 7931212 7931213 7931213 upstr_intron -25 -0.369230769230769 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGATGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA mutant NA NA NA NA NA 103 59 0.903926434300613 1 0.951963217150307 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 NA NA -0.0279091682485826 0.0421154057753124 0.842395681805347 0.944860098386942 NA 0.00710311876336489 NA FALSE NA 0 -3.924 . downstream_gene_variant MODIFIER CTD-3193O13.8 Clone_based_vega_gene NA ENST00000594308 rs370381930 1 T:0.0014 T:0.0053 T:0 NA T:0 T:0 T:0 T:0.0025 T:0.0001 ACC C,T 0.0002553 19:7931213 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003468427 non_coding_transcript_exon_variant 0.063623 0.1378 0.04053 0.256867 0.561536552462361 0.0520499 0.818201941811417 FALSE 0.000203042 ENSE00000954358_012 ENSE00000954358 012 19 7995969 7996138 - 54 51 65 G A 7996105 644 34 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTTGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 7931219 7931220 7931220 upstr_intron -32 -0.476923076923077 AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTTGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA mutant NA NA NA NA NA 42 46 0.95 0.97513228533886 0.96256614266943 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 NA NA 0.0181643974508041 0.0172476911141727 0.842395681805347 0.944860098386942 NA 0.0177060442824884 NA FALSE NA 0 -1.024 . downstream_gene_variant MODIFIER CTD-3193O13.8 Clone_based_vega_gene NA ENST00000594308 rs375210336 1 NA CGA G,A 6.589e-05 19:7931220 TIMM44 HGNC Symbol protein_coding 17202 ENSG00000104980 ENSE00003468427 non_coding_transcript_exon_variant -0.158179 0.17085 0.05172 0.256867 0.513570275226864 0.0518944 0.818201941811417 FALSE 6.09137e-05 ENSE00000954358_BRK ENSE00000954358 BRK 19 7995969 7996138 - 54 51 65 A,G; T,T NA NA NA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTTTGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTCCGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA 7931083 7931253 NA NA NA NA NA NA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTTTGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTCCGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA AGGACCTCGCCTGCTGCCTGAAAAGCCCACTCTCGTTCTGGTGCTTATTTTCCCTTCCTTTTTAGGCCATGATTTCTGGAGAGCTTGACATTCTCAAAGACTGGTGCTATGAAGCTGTGAGTACTTCCTTTCTTTTTCTTTTTTTTTTTTTAAGGCCTAAAAAATCACCA control 51 19 0 0 0 20 112 0 0 0 0.824676418823974 0.860114944786721 0.931835602549196 0.957884594224688 -0.824676418823974 -0.860114944786721 -0.931835602549196 -0.957884594224688 0.842395681805347 0.944860098386942 -0.842395681805347 -0.944860098386942 0.102464416581594 TRUE TRUE NA NA NA NA NA CTD-3193O13.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TIMM44 NA NA NA ENSG00000104980 ENSE00003468427 NA NA NA NA NA NA NA 0.818201941811417 FALSE NA ENSE00000954674_000 ENSE00000954674 000 19 50394617 50394786 - 45 69 56 NA NA NA NA NA ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 NA NA NA NA NA NA GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT natural 48 69 0.996297698372665 0.998067329415398 0.997182513894031 1486 896 0.997534322804039 0.992062952675635 0.994798637739837 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 0 0 0 0 0.997182513894031 0.994798637739837 0 0 0 FALSE FALSE NA NA NA NA NA IL4I1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL4I1 NA NA NA ENSG00000104951 ENSE00003527299 NA NA NA NA NA NA NA 0.262058044797637 FALSE NA ENSE00000954674_003 ENSE00000954674 003 19 50394617 50394786 - 45 69 56 G A 50394631 3050 156 ACTCTCTTTGCCCTACATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891373 49891374 49891374 downstr_intron 31 1.70454545454545 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGTAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 191 239 1 0.99933769807595 0.999668849037975 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00727474540031547 0.997182513894031 0.994798637739837 NA 0.00487021129813836 NA FALSE NA 0 -0.048 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA TGC G,A 8.236e-06 19:49891374 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 intron_variant -0.130441 0.09944 0.06685 0.199473 0.296955962020165 0.0524718 0.262058044797637 FALSE NA ENSE00000954674_004 ENSE00000954674 004 19 50394617 50394786 - 45 69 56 C A 50394632 3051 155 ACTCTCTTTGCCCTGAATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891374 49891375 49891375 downstr_intron 30 1.68181818181818 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATTCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 402 46 0.999795077074539 1 0.99989753853727 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00226075427050054 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.0050989007974328 NA FALSE NA 0.001 0.145 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA GCA C,A 8.236e-06 19:49891375 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 intron_variant 0.018197 0.10213 0.1042 0.199473 0.274845010276852 0.0524718 0.262058044797637 FALSE 4.06729e-06 ENSE00000954674_007 ENSE00000954674 007 19 50394617 50394786 - 45 69 56 C T 50394645 3054 142 ACTCTCTTTGCCCTGCATCTCAGCAGAATCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891387 49891388 49891388 downstr_intron 17 1.38636363636364 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGATTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 72 51 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 0 0.014 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA ACC C,T 8.236e-06 19:49891388 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 intron_variant 0.554347 0.22002 0.15646 0.199473 0.596362051482429 0.546041 0.262058044797637 FALSE 8.12731e-06 ENSE00000954674_008 ENSE00000954674 008 19 50394617 50394786 - 45 69 56 G C 50394649 3055 138 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAACATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891391 49891392 49891392 downstr_intron 13 1.29545454545455 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATGTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 302 258 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 0.001 1.804 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA AGA G,C 8.236e-06 19:49891392 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 intron_variant 0.076457 0.23537 0.3502 0.199473 0.433138826341113 0.582072 0.262058044797637 FALSE 4.06253e-06 ENSE00000954674_009 ENSE00000954674 009 19 50394617 50394786 - 45 69 56 T A 50394659 3056 128 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTAACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891401 49891402 49891402 downstr_intron 3 1.06818181818182 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTTAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 161 404 0 0 0 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA -0.997534322804039 -0.992062952675635 0.997182513894031 0.994798637739837 NA -0.994798637739837 NA TRUE NA 0.994 0.144 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA TTA T,A 8.236e-06 19:49891402 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 splice_region_variant 0.644589 0.86308 0.70463 0.199473 0.650368742959993 0.401365 0.262058044797637 FALSE 4.06144e-06 ENSE00000954674_010 ENSE00000954674 010 19 50394617 50394786 - 45 69 56 C T 50394662 3057 125 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACTAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891404 49891405 49891405 exon -1 1 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTAGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 539 358 0.722398455228645 0.794431509527744 0.758414982378195 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA -0.275135867575393 -0.197631443147891 0.997182513894031 0.994798637739837 NA -0.236383655361642 NA FALSE NA 1 3.94 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 COSM2753716 1 NA CCA C,T 1.647e-05 19:49891405 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 splice_region_variant 1.01987 0.91318 0.9218 0.627647 0.734483993214142 0 0.262058044797637 FALSE 8.12328e-06 ENSE00000954674_012 ENSE00000954674 012 19 50394617 50394786 - 45 69 56 C T 50394668 3059 119 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGTGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891410 49891411 49891411 exon -7 0.91304347826087 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACACTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 134 213 0.98565072681852 1 0.99282536340926 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA -0.0118835959855186 0.00793704732436507 0.997182513894031 0.994798637739837 NA -0.00197327433057676 NA FALSE NA 0 -3.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:49891411 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 synonymous_variant 1.506944 0.20676 0.04468 0.627647 0.611646873113113 0 0.262058044797637 FALSE 8.12242e-06 ENSE00000954674_013 ENSE00000954674 013 19 50394617 50394786 - 45 69 56 C A 50394668 3060 119 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGAGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891410 49891411 49891411 exon -7 0.91304347826087 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACTCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 124 42 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 0 -3.348 NA NA NA IL4I1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL4I1 NA NA NA ENSG00000104951 ENSE00003527299 synonymous_variant 2.28539 0.2266 0.09592 0.627647 0.613715033579442 0 0.262058044797637 FALSE 4.06121e-06 ENSE00000954674_014 ENSE00000954674 014 19 50394617 50394786 - 45 69 56 G A 50394669 3061 118 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCATGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891411 49891412 49891412 exon -8 0.898550724637681 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACATGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 211 19 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 0.743 5.16 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA CGT G,A 1.647e-05 19:49891412 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 missense_variant 4.682989 0.38609 0.86129 0.627647 0.997716099834139 0 0.262058044797637 FALSE 2.03067e-05 ENSE00000954674_015 ENSE00000954674 015 19 50394617 50394786 - 45 69 56 G A 50394671 3062 116 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTATGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891413 49891414 49891414 exon -10 0.869565217391304 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCATACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 447 255 1 0.999850618308054 0.999925309154027 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00778766563241939 0.997182513894031 0.994798637739837 NA 0.00512667141419032 NA FALSE NA 0.673 2.568 rs137998843 downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 rs137998843 1 NA A:0 A:0.0002 TGT G,A 5.765e-05 19:49891414 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 synonymous_variant -0.336697 0.23102 0.66455 0.627647 0.661706069870773 0 0.262058044797637 FALSE 3.65533e-05 ENSE00000954674_018 ENSE00000954674 018 19 50394617 50394786 - 45 69 56 C A 50394692 3065 95 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATAGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891434 49891435 49891435 exon -31 0.565217391304348 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCTATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 199 44 0.99875254365825 0.999130355032109 0.998941449345179 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00121822085421119 0.00706740235647385 0.997182513894031 0.994798637739837 NA 0.00414281160534252 NA FALSE NA 0 -1.418 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA TCG C,A 8.236e-06 19:49891435 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 synonymous_variant 1.559926 0.15301 0.08317 0.627647 0.583131080789882 0 0.262058044797637 FALSE NA ENSE00000954674_020 ENSE00000954674 020 19 50394617 50394786 - 45 69 56 C T 50394699 3067 88 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTTTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891441 49891442 49891442 exon 32 0.463768115942029 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAAAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 70 61 0.9580754317277 1 0.97903771586385 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA -0.0394588910763384 0.00793704732436507 0.997182513894031 0.994798637739837 NA -0.0157609218759867 NA FALSE NA 0 -1.372 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA TCT C,T 8.236e-06 19:49891442 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 missense_variant -2.153959 0.08753 0.02885 0.706298 0.631025646498941 0 0.262058044797637 FALSE 8.12216e-06 ENSE00000954674_021 ENSE00000954674 021 19 50394617 50394786 - 45 69 56 G A 50394701 3068 86 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTACAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891443 49891444 49891444 exon 30 0.434782608695652 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGTAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 141 131 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 1 3.716 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 rs201334467 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TGC G,A 8.236e-06 19:49891444 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 synonymous_variant -0.11361 0.91922 0.91354 0.706298 0.599221542799931 0 0.262058044797637 FALSE NA ENSE00000954674_023 ENSE00000954674 023 19 50394617 50394786 - 45 69 56 A G 50394717 3070 70 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGGGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891459 49891460 49891460 exon 14 0.202898550724638 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCCCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 235 116 0.998235512786144 0.982120268685624 0.990177890735884 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.000701189982105554 -0.00994268399001141 0.997182513894031 0.994798637739837 NA -0.00462074700395293 NA FALSE NA 0.688 4.9 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA GAG A,G 2.471e-05 19:49891460 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 missense_variant 4.344687 0.58487 0.90104 0.627647 0.996630579418466 0 0.262058044797637 FALSE 1.62466e-05 ENSE00000954674_024 ENSE00000954674 024 19 50394617 50394786 - 45 69 56 C G 50394721 3071 66 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTGTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891463 49891464 49891464 exon 10 0.144927536231884 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAACACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 17 55 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 0.614 2.763 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA TCT C,G 8.236e-06 19:49891464 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 missense_variant 3.462475 0.67914 0.85206 0.627647 0.989161130150525 0 0.262058044797637 FALSE 4.06197e-06 ENSE00000954674_025 ENSE00000954674 025 19 50394617 50394786 - 45 69 56 G A 50394729 3072 58 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGACCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891471 49891472 49891472 exon 2 0.0289855072463768 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGTCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 703 144 0.997095949745861 1 0.99854797487293 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA -0.000438373058177954 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00374933713309356 NA FALSE NA 1 3.752 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA GGC G,A 8.236e-06 19:49891472 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 missense_variant 2.233021 0.86854 0.83851 0.627647 0.594874459674385 0 0.262058044797637 FALSE NA ENSE00000954674_026 ENSE00000954674 026 19 50394617 50394786 - 45 69 56 C T 50394730 3073 57 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGTCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891472 49891473 49891473 exon 1 0.0144927536231884 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGACCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 10 32 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 1 1.798 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 rs545955914 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCC C,T 1.647e-05 19:49891473 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 missense_variant 4.505439 0.91939 0.84638 0.627647 0.99774021084229 0 0.262058044797637 FALSE 2.4374e-05 ENSE00000954674_029 ENSE00000954674 029 19 50394617 50394786 - 45 69 56 A G 50394751 3076 36 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACGTGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891493 49891494 49891494 upstr_intron -21 -0.357142857142857 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCACGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 188 10 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 0.013 0.502 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 rs374239094 1 NA G:0 G:0.0001 CAT A,G 8.236e-06 19:49891494 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 intron_variant 0.738822 0.10842 0.18985 0.166803 0.790334495981391 0.13655 0.262058044797637 FALSE NA ENSE00000954674_030 ENSE00000954674 030 19 50394617 50394786 - 45 69 56 G A 50394754 3077 33 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGATGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891496 49891497 49891497 upstr_intron -24 -0.410714285714286 GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCATCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 213 162 1 0.99310394030087 0.996551970150435 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00104098762523519 0.997182513894031 0.994798637739837 NA 0.00175333241059822 NA FALSE NA 0 0.238 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 1 NA GGT G,A 8.237e-06 19:49891497 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 intron_variant 1.107999 0.17131 0.22212 0.166803 0.850365530117465 0.13655 0.262058044797637 FALSE 4.06656e-06 ENSE00000954674_031 ENSE00000954674 031 19 50394617 50394786 - 45 69 56 C T 50394765 3078 22 ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTACCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCCTGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGTCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 49891507 49891508 49891508 upstr_intron -35 -0.607142857142857 GCCTCCACCCTGGCTGCCCGGACAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT mutant NA NA NA NA NA 19 1044 1 1 1 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 NA NA 0.00246567719596125 0.00793704732436507 0.997182513894031 0.994798637739837 NA 0.00520136226016316 NA FALSE NA 0 -0.582 . downstream_gene_variant MODIFIER IL4I1 HGNC 19094 ENST00000596022 rs376046002 1 NA T:0.0002 T:0 GCC C,T 1.647e-05 19:49891508 IL4I1 HGNC Symbol protein_coding 39885 ENSG00000104951 ENSE00003527299 intron_variant 0.953032 0.11115 0.07766 0.166803 0.882969124050178 0.163108 0.262058044797637 FALSE 8.14764e-06 ENSE00000954674_BRK ENSE00000954674 BRK 19 50394617 50394786 - 45 69 56 A,G; T,T NA NA NA ACTCTCTTTGCCCTGCATCTCAGCAGAACCAAGATCCCCACTTGGCAAGAGCGTGTGCCTTTCAAACTTCTTCATCGCCTTTCTGCAGCCCAGTGCCTTGAGGTCTTTGAGGGCAAGTTGTGGAAGAAGCAGACATGGTGCTGAGCTGCCCGGGCAGCCAGGGTGGAGGC 49891359 49891529 NA NA NA NA NA NA GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACTTGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGCCAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT GCCTCCACCCTGGCTGCCCGGGCAGCTCAGCACCATGTCTGCTTCTTCCACAACAGGCCCTCAAAGACCTCAAGGCACTGGGCTGCAGAAAGGCGATGAAGAAGTTTGAAAGGCACACGCTCTTGGTAAGTGGGGATCTTGGTTCTGCTGAGATGCAGGGCAAAGAGAGT control 123 102 0.190435185031881 0 0.0952175925159407 105 78 0 0.00413049313230354 0.00206524656615177 0.996297698372665 0.998067329415398 0.997534322804039 0.992062952675635 -0.805862513340783 -0.998067329415398 -0.997534322804039 -0.987932459543331 0.997182513894031 0.994798637739837 -0.90196492137809 -0.992733391173685 0.0907684697955946 TRUE TRUE NA NA NA NA NA IL4I1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL4I1 NA NA NA ENSG00000104951 ENSE00003527299 NA NA NA NA NA NA NA 0.262058044797637 FALSE NA ENSE00000955288_000 ENSE00000955288 000 1 17981084 17981253 + 47 87 36 NA NA NA NA NA GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 NA NA NA NA NA NA GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC natural 420 543 0.832845648504151 0.819562270132247 0.826203959318199 1893 1259 0.900869732493199 0.953780232664188 0.927324982578693 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 0 0 0 0 0.826203959318199 0.927324982578693 0 0 0 FALSE FALSE NA NA NA NA NA ARHGEF10L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF10L NA NA NA ENSG00000074964 ENSE00003678534 NA NA NA NA NA NA NA 0.0383062935578488 FALSE NA ENSE00000955288_003 ENSE00000955288 003 1 17981084 17981253 + 47 87 36 T C 17981109 449 26 GGGCACCTTGATGATTAACCTCACACGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654613 17654614 17654614 upstr_intron -22 -0.446808510638298 GGGCACCTTGATGATTAACCTCACACGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant 57 76 0.85 0.85 0.85 14 333 0.8 0.800758922211666 0.800379461105833 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 0.0171543514958489 0.0304377298677525 -0.100869732493199 -0.153021310452522 0.826203959318199 0.927324982578693 0.0237960406818007 -0.12694552147286 0.150741562154661 FALSE FALSE 0 -0.6 . intron_variant MODIFIER ARHGEF10L HGNC 25540 ENST00000361221 22/28 1 NA ATG T,C 8.236e-06 1:17654614 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 intron_variant 0.153926 0.12876 0.01366 0.055982 0.674142777368314 0.111395 0.0383062935578488 FALSE 4.06174e-06 ENSE00000955288_004 ENSE00000955288 004 1 17981084 17981253 + 47 87 36 C T 17981113 450 30 GGGCACCTTGATGATTAACCTCACATGTATCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654617 17654618 17654618 upstr_intron -18 -0.361702127659574 GGGCACCTTGATGATTAACCTCACATGTATCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant 46 67 0.85 0.85 0.85 697 129 0.959517072418917 0.966352237841148 0.962934655130032 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 0.0171543514958489 0.0304377298677525 0.0586473399257184 0.0125720051769599 0.826203959318199 0.927324982578693 0.0237960406818007 0.0356096725513391 0.0118136318695384 FALSE FALSE 0 0.034 . intron_variant MODIFIER ARHGEF10L HGNC 25540 ENST00000361221 22/28 1 NA ACC C,T 8.236e-06 1:17654618 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 intron_variant -0.04869 0.13226 0.02483 0.055982 0.307865203695839 0.110838 0.0383062935578488 FALSE 4.0618e-06 ENSE00000955288_005 ENSE00000955288 005 1 17981084 17981253 + 47 87 36 C T 17981114 451 31 GGGCACCTTGATGATTAACCTCACATGTACTGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654618 17654619 17654619 upstr_intron -17 -0.340425531914894 GGGCACCTTGATGATTAACCTCACATGTACTGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant 16 105 0.93284816250039 0.85 0.891424081250195 185 61 0.987580617903414 0.964996365732787 0.9762884918181 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 0.100002513996239 0.0304377298677525 0.0867108854102152 0.0112161330685991 0.826203959318199 0.927324982578693 0.0652201219319956 0.0489635092394072 0.0162566126925884 FALSE FALSE 0 -1.441 . intron_variant MODIFIER ARHGEF10L HGNC 25540 ENST00000361221 22/28 1 NA CCG C,T 4.118e-05 1:17654619 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 intron_variant 0.015806 0.14471 0.01179 0.055982 0.455771496788419 0.112514 0.0383062935578488 FALSE 4.06164e-05 ENSE00000955288_007 ENSE00000955288 007 1 17981084 17981253 + 47 87 36 G C 17981130 453 47 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCACCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654634 17654635 17654635 upstr_intron -1 0 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCACCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant 155 123 0.0335395592052864 0 0.0167697796026432 NA NA NA NA NA 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 -0.799306089298865 -0.819562270132247 NA NA 0.826203959318199 0.927324982578693 -0.809434179715556 NA NA NA TRUE 1 7.864 . splice_acceptor_variant HIGH ARHGEF10L HGNC 25540 ENST00000361221 22/28 1 NA HC AGC G,C 8.236e-06 1:17654635 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 splice_acceptor_variant 4.834703 0.98426 0.98062 0.090766 0.993527970673268 0.970766 0.0383062935578488 FALSE 4.06075e-06 ENSE00000955288_008 ENSE00000955288 008 1 17981084 17981253 + 47 87 36 G A 17981136 454 53 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGAGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654640 17654641 17654641 exon 6 0.0689655172413793 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGAGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant NA NA NA NA NA 71 145 1 1 1 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 NA NA 0.0991302675068014 0.0462197673358123 0.826203959318199 0.927324982578693 NA 0.0726750174213069 NA FALSE NA 0.934 -0.383 . synonymous_variant LOW ARHGEF10L HGNC 25540 ENST00000361221 23/29 rs575658777 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGG G,A 1.647e-05 1:17654641 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 synonymous_variant 1.102167 0.94707 0.35104 0.695654 0.73586248451673 0 0.0383062935578488 FALSE 8.12156e-06 ENSE00000955288_009 ENSE00000955288 009 1 17981084 17981253 + 47 87 36 C G 17981139 455 56 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCGCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654643 17654644 17654644 exon 9 0.103448275862069 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCGCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant NA NA NA NA NA 566 328 1 1 1 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 NA NA 0.0991302675068014 0.0462197673358123 0.826203959318199 0.927324982578693 NA 0.0726750174213069 NA FALSE NA 0.947 -0.113 . synonymous_variant LOW ARHGEF10L HGNC 25540 ENST00000361221 23/29 1 NA CCC C,G 1.647e-05 1:17654644 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 synonymous_variant 1.773738 0.9627 0.72305 0.695654 0.74215832879147 0 0.0383062935578488 FALSE 1.21821e-05 ENSE00000955288_010 ENSE00000955288 010 1 17981084 17981253 + 47 87 36 G A 17981142 456 59 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTAGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654646 17654647 17654647 exon 12 0.137931034482759 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTAGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant NA NA NA NA NA 47 19 0.902637101641739 0.822932560911331 0.862784831276535 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 NA NA 0.00176736914854014 -0.130847671752856 0.826203959318199 0.927324982578693 NA -0.0645401513021581 NA FALSE NA 1 0.583 . synonymous_variant LOW ARHGEF10L HGNC 25540 ENST00000361221 23/29 1 NA TGG G,A 8.236e-06 1:17654647 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 synonymous_variant 1.177429 0.95292 0.70892 0.695654 0.780978485033178 0 0.0383062935578488 FALSE 4.06081e-06 ENSE00000955288_011 ENSE00000955288 011 1 17981084 17981253 + 47 87 36 C T 17981167 457 84 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCTTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654671 17654672 17654672 exon 37 0.425287356321839 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCTTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant 88 191 0.85 0.85 0.85 NA NA NA NA NA 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 0.0171543514958489 0.0304377298677525 NA NA 0.826203959318199 0.927324982578693 0.0237960406818007 NA NA NA FALSE 0.516 1.254 . synonymous_variant LOW ARHGEF10L HGNC 25540 ENST00000361221 23/29 1 NA CCT C,T 8.236e-06 1:17654672 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 synonymous_variant 1.889286 0.96316 0.70288 0.695654 0.864023232284855 0 0.0383062935578488 FALSE 4.06075e-06 ENSE00000955288_012 ENSE00000955288 012 1 17981084 17981253 + 47 87 36 C T 17981180 458 97 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTTAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654684 17654685 17654685 exon -38 0.574712643678161 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTTAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant NA NA NA NA NA 378 317 0.803114421531924 0.800797195485836 0.80195580850888 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 NA NA -0.0977553109612748 -0.152983037178351 0.826203959318199 0.927324982578693 NA -0.125369174069813 NA FALSE NA 1 3.565 . missense_variant MODERATE ARHGEF10L HGNC 25540 ENST00000361221 23/29 1 benign(0.416) NA TCA C,T 8.236e-06 1:17654685 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 missense_variant 3.238876 0.98266 0.93049 0.695654 0.985587484134462 0 0.0383062935578488 FALSE 4.06101e-06 ENSE00000955288_013 ENSE00000955288 013 1 17981084 17981253 + 47 87 36 A C 17981181 459 98 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCCGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654685 17654686 17654686 exon -37 0.586206896551724 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCCGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant NA NA NA NA NA 40 590 1 0.998830426458708 0.999415213229354 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 NA NA 0.0991302675068014 0.0450501937945204 0.826203959318199 0.927324982578693 NA 0.0720902306506609 NA FALSE NA 0 -6.369 . synonymous_variant LOW ARHGEF10L HGNC 25540 ENST00000361221 23/29 1 NA CAG A,C 2.471e-05 1:17654686 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 synonymous_variant -1.007625 0.13608 0.01076 0.695654 0.362831395247769 0 0.0383062935578488 FALSE 2.43657e-05 ENSE00000955288_015 ENSE00000955288 015 1 17981084 17981253 + 47 87 36 G A 17981185 461 102 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAATCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654689 17654690 17654690 exon -33 0.632183908045977 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAATCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant 27 49 0.85 0.76150966076854 0.80575483038427 90 743 0.965923724093073 0.935567997095351 0.950745860594212 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 0.0171543514958489 -0.0580526093637075 0.0650539915998742 -0.0182122355688366 0.826203959318199 0.927324982578693 -0.0204491289339293 0.0234208780155188 0.0438700069494481 FALSE FALSE 1 4.1 . missense_variant MODERATE ARHGEF10L HGNC 25540 ENST00000361221 23/29 rs564258785 1 benign(0.074) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGT G,A 8.236e-06 1:17654690 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 missense_variant 1.18524 0.96846 0.91905 0.695654 0.982576478118818 0 0.0383062935578488 FALSE NA ENSE00000955288_017 ENSE00000955288 017 1 17981084 17981253 + 47 87 36 C G 17981195 463 112 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTGCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654699 17654700 17654700 exon -23 0.747126436781609 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTGCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant NA NA NA NA NA 11 39 1 1 1 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 NA NA 0.0991302675068014 0.0462197673358123 0.826203959318199 0.927324982578693 NA 0.0726750174213069 NA FALSE NA 1 6.244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:17654700 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 missense_variant 6.00496 0.98317 0.97174 0.695654 0.988463155329953 0 0.0383062935578488 FALSE 1.21839e-05 ENSE00000955288_019 ENSE00000955288 019 1 17981084 17981253 + 47 87 36 C G 17981226 465 143 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCAGCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654730 17654731 17654731 downstr_intron 9 1.25714285714286 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCAGCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant NA NA NA NA NA 214 356 0.79132404814394 0.69628803009523 0.743806039119585 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 NA NA -0.109545684349259 -0.257492202568957 0.826203959318199 0.927324982578693 NA -0.183518943459108 NA FALSE NA 0 -0.199 NA NA NA ARHGEF10L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:17654731 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 intron_variant 0.349171 0.14341 0.05217 0.056701 0.679350589066631 0.112221 0.0383062935578488 FALSE 1.62825e-05 ENSE00000955288_021 ENSE00000955288 021 1 17981084 17981253 + 47 87 36 C A 17981230 467 147 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCACTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 17654734 17654735 17654735 downstr_intron 13 1.37142857142857 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCACTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant 21 21 0.85 0.85 0.85 NA NA NA NA NA 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 0.017154351495849 0.0304377298677525 NA NA 0.826203959318199 0.927324982578693 0.0237960406818007 NA NA NA FALSE 0 -1.14 . intron_variant MODIFIER ARHGEF10L HGNC 25540 ENST00000361221 23/28 1 NA CCC C,A 8.236e-06 1:17654735 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 intron_variant 0.484621 0.13715 0.04553 0.056701 0.716611270125926 0.0789859 0.0383062935578488 FALSE 4.06785e-06 ENSE00000955288_022 ENSE00000955288 022 1 17981084 17981253 + 47 87 36 G A 17981233 468 150 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTACCCAGCTGGGCATTCTGGCC 17654588 17654758 17654737 17654738 17654738 downstr_intron 16 1.45714285714286 GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTACCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC mutant 65 94 0.841520977008195 0.85 0.845760488504097 NA NA NA NA NA 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 0.00867532850404362 0.0304377298677525 NA NA 0.826203959318199 0.927324982578693 0.0195565291858981 NA NA NA FALSE 0 -0.562 . intron_variant MODIFIER ARHGEF10L HGNC 25540 ENST00000361221 23/28 1 NA TGC G,A 8.236e-06 1:17654738 ARHGEF10L HGNC Symbol protein_coding 158039 ENSG00000074964 ENSE00003678534 intron_variant 0.134752 0.17684 0.03915 0.055982 0.344061425282388 0.0789859 0.0383062935578488 FALSE 4.07242e-06 ENSE00000955288_BRK ENSE00000955288 BRK 1 17981084 17981253 + 47 87 36 A,G; T,T NA NA NA GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCTTCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGCCGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC 17654588 17654758 NA NA NA NA NA NA GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCTTCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGCCGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC GGGCACCTTGATGATTAACCTCACATGTACCGTCTCTGTCTCTGCAGCTTGGGGCCCTGGTCCACAGTCCTGTCAACTGTCCCCTGCTGGGTTTCTCAGCAGTCAGCACCTCCCTTCCACAGGGCTACCTCTGGGTGAGTCACCCCCCTGCCCAGCTGGGCATTCTGGCC control 281 55 0 0 0 NA NA NA NA NA 0.832845648504151 0.819562270132247 0.900869732493199 0.953780232664188 -0.832845648504151 -0.819562270132247 NA NA 0.826203959318199 0.927324982578693 -0.826203959318199 NA NA NA TRUE NA NA NA NA NA ARHGEF10L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF10L NA NA NA ENSG00000074964 ENSE00003678534 NA NA NA NA NA NA NA 0.0383062935578488 FALSE NA ENSE00000956392_000 ENSE00000956392 000 1 27589595 27589764 + 48 84 38 NA NA NA NA NA CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 NA NA NA NA NA NA CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT natural 24 17 0.998055549240843 0.970080491024055 0.984068020132449 1009 867 0.946776430027998 0.937400839627641 0.942088634827819 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 0 0 0 0 0.984068020132449 0.942088634827819 0 0 0 FALSE FALSE NA NA NA NA NA WDTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDTC1 NA NA NA ENSG00000142784 ENSE00000956392 NA NA NA NA NA NA NA 0.99930782583365 TRUE NA ENSE00000956392_003 ENSE00000956392 003 1 27589595 27589764 + 48 84 38 G A 27589622 888 28 CATATTTAATTGAATCAATGAAATCACAAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263130 27263131 27263131 upstr_intron -21 -0.416666666666667 CATATTTAATTGAATCAATGAAATCACAAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 195 139 0.998726814738014 1 0.999363407369007 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0519503847100157 0.0625991603723591 0.984068020132449 0.942088634827819 NA 0.0572747725411874 NA FALSE NA 0 0.238 . intron_variant MODIFIER WDTC1 HGNC 29175 ENST00000361771 2/15 rs370310988 1 NA A:0 A:0.0001 CGA G,A 4.118e-05 1:27263131 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 intron_variant 0.680009 0.20649 0.011 0.322412 0.770693512452523 0.1273 0.99930782583365 TRUE 4.07641e-05 ENSE00000956392_007 ENSE00000956392 007 1 27589595 27589764 + 48 84 38 G T 27589647 892 53 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCTGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263155 27263156 27263156 exon 5 0.0595238095238095 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCTGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 59 137 1 0.996305034240702 0.998152517120351 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0589041946130607 0.984068020132449 0.942088634827819 NA 0.0560638822925313 NA FALSE NA 1 2.243 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:27263156 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 missense_variant 3.546545 0.97623 0.8237 0.732398 0.994423068424011 0 0.99930782583365 TRUE 4.0782e-06 ENSE00000956392_008 ENSE00000956392 008 1 27589595 27589764 + 48 84 38 G A 27589647 893 53 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCAGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263155 27263156 27263156 exon 5 0.0595238095238095 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCAGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 98 25 1 1 1 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0625991603723591 0.984068020132449 0.942088634827819 NA 0.0579113651721805 NA FALSE NA 1 2.243 NA NA NA WDTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDTC1 NA NA NA ENSG00000142784 ENSE00000956392 missense_variant 3.342951 0.97424 0.69676 0.732398 0.997547082867529 0 0.99930782583365 TRUE 8.15641e-06 ENSE00000956392_010 ENSE00000956392 010 1 27589595 27589764 + 48 84 38 G A 27589659 895 65 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAACTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263167 27263168 27263168 exon 17 0.202380952380952 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAACTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 16 38 1 1 1 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0625991603723591 0.984068020132449 0.942088634827819 NA 0.0579113651721805 NA FALSE NA 1 6.831 rs113578154 missense_variant MODERATE WDTC1 HGNC 29175 ENST00000361771 3/16 rs113578154 1 tolerated(0.53) benign(0) NA AGC G,A 8.236e-06 1:27263168 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 missense_variant 2.505226 0.98781 0.95566 0.732398 0.966423727226698 0 0.99930782583365 TRUE 4.07037e-06 ENSE00000956392_012 ENSE00000956392 012 1 27589595 27589764 + 48 84 38 G A 27589668 897 74 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCAGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263176 27263177 27263177 exon 26 0.30952380952381 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCAGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 28 204 0.811448947159267 0.723659348515326 0.767554147837297 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA -0.135327482868731 -0.213741491112315 0.984068020132449 0.942088634827819 NA -0.174534486990523 NA FALSE NA 1 6.831 . missense_variant MODERATE WDTC1 HGNC 29175 ENST00000361771 3/16 1 tolerated(0.31) benign(0.104) NA CGG G,A 1.647e-05 1:27263177 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 missense_variant 3.707099 0.98781 0.95566 0.732398 0.998622245780159 0 0.99930782583365 TRUE 1.2221e-05 ENSE00000956392_014 ENSE00000956392 014 1 27589595 27589764 + 48 84 38 G A 27589671 899 77 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCACTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263179 27263180 27263180 exon 29 0.345238095238095 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCACTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 136 235 1 1 1 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0625991603723591 0.984068020132449 0.942088634827819 NA 0.0579113651721805 NA FALSE NA 0.996 1.666 . missense_variant MODERATE WDTC1 HGNC 29175 ENST00000361771 3/16 rs374744045 1 tolerated(0.23) benign(0.001) NA A:0 A:0.0001 CGC G,A 3.295e-05 1:27263180 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 missense_variant 3.408281 0.97296 0.57097 0.732398 0.996109241821028 0 0.99930782583365 TRUE 4.47726e-05 ENSE00000956392_018 ENSE00000956392 018 1 27589595 27589764 + 48 84 38 A G 27589694 903 100 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTGTCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263202 27263203 27263203 exon -33 0.619047619047619 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTGTCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 399 424 1 1 1 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0625991603723591 0.984068020132449 0.942088634827819 NA 0.0579113651721805 NA FALSE NA 1 6.476 . missense_variant MODERATE WDTC1 HGNC 29175 ENST00000361771 3/16 rs541475385 1 tolerated(0.21) benign(0.23) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAT A,G 8.236e-06 1:27263203 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 missense_variant 2.099503 0.98548 0.95268 0.732398 0.992838159746938 0 0.99930782583365 TRUE 8.13716e-06 ENSE00000956392_019 ENSE00000956392 019 1 27589595 27589764 + 48 84 38 C T 27589697 904 103 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCTGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263205 27263206 27263206 exon -30 0.654761904761905 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCTGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 85 245 0.991324537752461 1 0.995662268876231 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.044548107724463 0.0625991603723591 0.984068020132449 0.942088634827819 NA 0.0535736340484111 NA FALSE NA 1 2.09 . missense_variant MODERATE WDTC1 HGNC 29175 ENST00000361771 3/16 1 deleterious(0.01) possibly_damaging(0.599) NA CCG C,T 8.236e-06 1:27263206 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 missense_variant 7.23235 0.9745 0.72192 0.732398 0.999034871806557 0 0.99930782583365 TRUE 1.22083e-05 ENSE00000956392_022 ENSE00000956392 022 1 27589595 27589764 + 48 84 38 C A 27589708 907 114 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGACTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263216 27263217 27263217 exon -19 0.785714285714286 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGACTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 91 180 0.991564572502719 0.998074166642066 0.994819369572393 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0447881424747212 0.0606733270144255 0.984068020132449 0.942088634827819 NA 0.0527307347445733 NA FALSE NA 1 1.441 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:27263217 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 synonymous_variant 2.492144 0.98129 0.76682 0.732398 0.709523531786176 0 0.99930782583365 TRUE 4.88508e-05 ENSE00000956392_023 ENSE00000956392 023 1 27589595 27589764 + 48 84 38 C T 27589708 908 114 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGTCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263216 27263217 27263217 exon -19 0.785714285714286 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGTCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 167 50 1 0.992842039021121 0.99642101951056 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0554411993934799 0.984068020132449 0.942088634827819 NA 0.0543323846827409 NA FALSE NA 1 1.441 NA NA NA WDTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDTC1 NA NA NA ENSG00000142784 ENSE00000956392 synonymous_variant 2.259643 0.98009 0.75276 0.732398 0.698419074780259 0 0.99930782583365 TRUE 1.62836e-05 ENSE00000956392_025 ENSE00000956392 025 1 27589595 27589764 + 48 84 38 A T 27589729 910 135 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTTAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263237 27263238 27263238 downstr_intron 3 1.08108108108108 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTTAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 63 93 0.8 0.8 0.8 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA -0.146776430027998 -0.137400839627641 0.984068020132449 0.942088634827819 NA -0.142088634827819 NA FALSE NA 1 1.795 . splice_region_variant&intron_variant LOW WDTC1 HGNC 29175 ENST00000361771 3/15 1 NA TAA A,T 8.236e-06 1:27263238 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 splice_region_variant 1.825955 0.98549 0.91434 0.106106 0.967030685652281 0.962491 0.99930782583365 TRUE 4.07957e-06 ENSE00000956392_026 ENSE00000956392 026 1 27589595 27589764 + 48 84 38 G T 27589733 911 139 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGATATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263241 27263242 27263242 downstr_intron 7 1.18918918918919 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGATATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 606 61 1 0.997398427262938 0.998699213631469 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0599975876352968 0.984068020132449 0.942088634827819 NA 0.0566105788036494 NA FALSE NA 0.892 1.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:27263242 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 splice_region_variant 0.07361 0.27339 0.50184 0.088506 0.637441866931523 0.052078 0.99930782583365 TRUE 0.00138082 ENSE00000956392_027 ENSE00000956392 027 1 27589595 27589764 + 48 84 38 G C 27589733 912 139 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGACATCCAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263241 27263242 27263242 downstr_intron 7 1.18918918918919 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGACATCCAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 1282 39 0.99433347314396 0.995922957245705 0.995128215194833 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0475570431159623 0.0585221176180639 0.984068020132449 0.942088634827819 NA 0.0530395803670131 NA FALSE NA 0.892 1.011 NA NA NA WDTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDTC1 NA NA NA ENSG00000142784 ENSE00000956392 splice_region_variant -0.073175 0.26986 0.29283 0.088506 0.588320834890699 0.052078 0.99930782583365 TRUE 4.08527e-06 ENSE00000956392_028 ENSE00000956392 028 1 27589595 27589764 + 48 84 38 C A 27589736 913 142 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATACAGTTTGCACCTTAGATGCAGATGGCCT 27263103 27263273 27263244 27263245 27263245 downstr_intron 10 1.27027027027027 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATACAGTTTGCACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 121 132 1 1 1 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0625991603723591 0.984068020132449 0.942088634827819 NA 0.0579113651721805 NA FALSE NA 0 -0.088 . intron_variant MODIFIER WDTC1 HGNC 29175 ENST00000361771 3/15 1 NA TCC C,A 8.236e-06 1:27263245 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 intron_variant 0.61889 0.33384 0.07955 0.088506 0.552520889299429 0.052078 0.99930782583365 TRUE 4.0987e-06 ENSE00000956392_030 ENSE00000956392 030 1 27589595 27589764 + 48 84 38 C T 27589744 915 150 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGTACCTTAGATGCAGATGGCCT 27263103 27263273 27263252 27263253 27263253 downstr_intron 18 1.48648648648649 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGTACCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 25 792 1 0.987584553822452 0.993792276911226 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA 0.0532235699720019 0.0501837141948116 0.984068020132449 0.942088634827819 NA 0.0517036420834068 NA FALSE NA 0 0.052 . intron_variant MODIFIER WDTC1 HGNC 29175 ENST00000361771 3/15 1 NA GCA C,T 8.236e-06 1:27263253 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 intron_variant -0.03504 0.18407 0.01656 0.088506 0.429270918982193 0.0448725 0.99930782583365 TRUE 4.10715e-06 ENSE00000956392_031 ENSE00000956392 031 1 27589595 27589764 + 48 84 38 C T 27589746 916 152 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCATCTTAGATGCAGATGGCCT 27263103 27263273 27263254 27263255 27263255 downstr_intron 20 1.54054054054054 CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCATCTTAGATGCAGATGGCCT CATATTTAATTGAATCAATGAAATCACGAATTTGTTTCTGTCCCCTAGGAGCGGGGTGCCCTGAGCTTTGAGCGGCGCTACCATGTCACTGACCCCTTTATCCGGCGGCTGGGCCTGGAAGCAGAGCTGCAGGTAAGAGATCCAGTTTGCACCTTAGATGCAGATGGCCT mutant NA NA NA NA NA 1687 94 0.829033322270567 0.971338560653653 0.90018594146211 0.998055549240843 0.970080491024055 0.946776430027998 0.937400839627641 NA NA -0.117743107757431 0.0339377210260119 0.984068020132449 0.942088634827819 NA -0.0419026933657097 NA FALSE NA 0 -2.23 . intron_variant MODIFIER WDTC1 HGNC 29175 ENST00000361771 3/15 1 NA ACC C,T 8.237e-06 1:27263255 WDTC1 HGNC Symbol protein_coding 74117 ENSG00000142784 ENSE00000956392 intron_variant 0.324115 0.17572 0.01436 0.088506 0.453870385120507 0.0448725 0.99930782583365 TRUE 4.13452e-06 ENSE00000957235_000 ENSE00000957235 000 1 47118197 47118366 - 56 48 66 NA NA NA NA NA ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 NA NA NA NA NA NA ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT natural 54 28 0.999688900000609 0.990512521831111 0.99510071091586 4716 3611 0.894744629329153 0.959290223971961 0.927017426650557 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 0 0 0 0 0.99510071091586 0.927017426650557 0 0 0 FALSE FALSE NA NA NA NA NA ATPAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATPAF1 NA NA NA ENSG00000123472 ENSE00003649150 NA NA NA NA NA NA NA 0.236382638181407 FALSE NA ENSE00000957235_001 ENSE00000957235 001 1 47118197 47118366 - 56 48 66 T C 47118216 1822 151 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAGTGTTGCCAAACAAGTATTT 46652524 46652694 46652543 46652544 46652544 downstr_intron 37 1.67272727272727 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAGTGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 1123 620 0.997530445906266 0.949376773278767 0.973453609592516 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.102785816577113 -0.00991345069319394 0.99510071091586 0.927017426650557 NA 0.0464361829419593 NA FALSE NA 0 -2.106 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 3/5 rs370174546 1 NA C:0 C:0.0001 ATT T,C 3.295e-05 1:46652544 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 non_coding_transcript_exon_variant 1.526381 0.09669 0.00524 0.322412 0.636007591849171 0.12152 0.236382638181407 FALSE 2.45904e-05 ENSE00000957235_002 ENSE00000957235 002 1 47118197 47118366 - 56 48 66 A C 47118225 1823 142 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTGGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652552 46652553 46652553 downstr_intron 28 1.50909090909091 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTGGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 177 1203 0.996459346137947 1 0.998229673068973 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.101714716808794 0.0407097760280388 0.99510071091586 0.927017426650557 NA 0.0712122464184163 NA FALSE NA 0.035 1.038 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 3/5 1 NA CAA A,C 2.471e-05 1:46652553 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 non_coding_transcript_exon_variant 1.632382 0.23212 0.11445 0.322412 0.773967252080404 0.12152 0.236382638181407 FALSE 1.63693e-05 ENSE00000957235_005 ENSE00000957235 005 1 47118197 47118366 - 56 48 66 T C 47118235 1826 132 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCGCGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652562 46652563 46652563 downstr_intron 18 1.32727272727273 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCGCGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 268 242 0.971354911150445 1 0.985677455575222 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.0766102818212916 0.0407097760280388 0.99510071091586 0.927017426650557 NA 0.0586600289246652 NA FALSE NA 0 0.277 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 3/5 1 NA GTG T,C 8.237e-06 1:46652563 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 non_coding_transcript_exon_variant 0.706042 0.17571 0.06545 0.322412 0.646532414063379 0.12152 0.236382638181407 FALSE NA ENSE00000957235_006 ENSE00000957235 006 1 47118197 47118366 - 56 48 66 A G 47118240 1827 127 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGCGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652567 46652568 46652568 downstr_intron 13 1.23636363636364 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGCGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 579 660 0.972707668398252 0.994112498716531 0.983410083557392 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.0779630390690993 0.0348222747445701 0.99510071091586 0.927017426650557 NA 0.0563926569068347 NA FALSE NA 0 1.7 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 3/5 1 NA CAC A,G 8.237e-06 1:46652568 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 non_coding_transcript_exon_variant 1.622793 0.21841 0.07001 0.322412 0.63452197369839 0.730887 0.236382638181407 FALSE 4.07365e-06 ENSE00000957235_007 ENSE00000957235 007 1 47118197 47118366 - 56 48 66 C T 47118242 1828 125 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTAGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652569 46652570 46652570 downstr_intron 11 1.2 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTAGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 646 251 0.998202482625263 0.999848235455653 0.999025359040458 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.10345785329611 0.0405580114836922 0.99510071091586 0.927017426650557 NA 0.0720079323899013 NA FALSE NA 0 -1.247 rs112067834 intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 3/5 rs112067834 1 T:0.0136 T:0.0469 T:0.0072 NA T:0 T:0.001 T:0 T:0.0368 T:0.0005 CCA C,T 0.003979 1:46652570 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 non_coding_transcript_exon_variant 1.646338 0.11983 0.00503 0.322412 0.769041655142042 0.248022 0.236382638181407 FALSE 0.00313259 ENSE00000957235_008 ENSE00000957235 008 1 47118197 47118366 - 56 48 66 C T 47118270 1829 97 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGACTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652597 46652598 46652598 exon -18 0.645833333333333 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGACTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant 22 21 1 1 1 NA NA NA NA NA 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 0.000311099999391162 0.00948747816888895 NA NA 0.99510071091586 0.927017426650557 0.00489928908414006 NA NA NA FALSE 0.998 1.766 . missense_variant MODERATE ATPAF1 HGNC 18803 ENST00000534216 3/6 COSM3977706 1 tolerated(0.05) benign(0.287) NA GCC C,T 8.237e-06 1:46652598 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 missense_variant 5.634726 0.97452 0.83329 0.732398 0.996880459597125 0 0.236382638181407 FALSE 4.07083e-06 ENSE00000957235_009 ENSE00000957235 009 1 47118197 47118366 - 56 48 66 C T 47118272 1830 95 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCAGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652599 46652600 46652600 exon -20 0.604166666666667 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCAGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 399 788 0.895067599165508 0.97545984191654 0.935263720541024 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.000322969836354603 0.0161696179445792 0.99510071091586 0.927017426650557 NA 0.00824629389046688 NA FALSE NA 1 5.093 . missense_variant MODERATE ATPAF1 HGNC 18803 ENST00000534216 3/6 1 deleterious(0.01) probably_damaging(0.991) NA CCG C,T 8.237e-06 1:46652600 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 missense_variant 6.582245 0.97484 0.9448 0.732398 0.999342321965045 0 0.236382638181407 FALSE 2.03634e-05 ENSE00000957235_010 ENSE00000957235 010 1 47118197 47118366 - 56 48 66 A G 47118286 1831 81 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGACTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652613 46652614 46652614 exon 15 0.3125 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGACTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 468 418 1 0.998992174066779 0.99949608703339 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.105255370670847 0.0397019500948181 0.99510071091586 0.927017426650557 NA 0.0724786603828326 NA FALSE NA 1 0.564 . synonymous_variant LOW ATPAF1 HGNC 18803 ENST00000534216 3/6 rs371007611 1 NA G:0 G:0.0001 AAT A,G 1.648e-05 1:46652614 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 synonymous_variant 0.260645 0.94742 0.43688 0.732398 0.640319866533272 0 0.236382638181407 FALSE 8.1481e-06 ENSE00000957235_011 ENSE00000957235 011 1 47118197 47118366 - 56 48 66 C T 47118300 1832 67 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGACAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652627 46652628 46652628 exon 1 0.0208333333333333 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGACAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 124 2044 0.97261338439875 0.931305249270415 0.951959316834583 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.0778687550695969 -0.0279849747015459 0.99510071091586 0.927017426650557 NA 0.0249418901840255 NA FALSE NA 1 0.617 . missense_variant&splice_region_variant MODERATE ATPAF1 HGNC 18803 ENST00000534216 3/6 rs368299807 1 tolerated(0.48) benign(0.006) NA T:0 T:0.0001 GCC C,T 3.295e-05 1:46652628 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 missense_variant 1.81491 0.95057 0.35725 0.732398 0.754767448838537 0 0.236382638181407 FALSE 3.67782e-05 ENSE00000957235_012 ENSE00000957235 012 1 47118197 47118366 - 56 48 66 G A 47118307 1833 60 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAATCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652634 46652635 46652635 upstr_intron -7 -0.0909090909090909 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAATCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 397 190 0.979502623023371 0.982977537437117 0.981240080230244 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.0847579936942179 0.0236873134651555 0.99510071091586 0.927017426650557 NA 0.0542226535796867 NA FALSE NA 0.014 0.771 . splice_region_variant&intron_variant LOW ATPAF1 HGNC 18803 ENST00000534216 2/5 1 NA GGT G,A 8.238e-06 1:46652635 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 splice_region_variant 0.808387 0.29346 0.0773 0.088506 0.610082376336854 0.24471 0.236382638181407 FALSE 8.19887e-06 ENSE00000957235_013 ENSE00000957235 013 1 47118197 47118366 - 56 48 66 G A 47118311 1834 56 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTTCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652638 46652639 46652639 upstr_intron -11 -0.151515151515152 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTTCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 439 60 1 1 1 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.105255370670847 0.0407097760280388 0.99510071091586 0.927017426650557 NA 0.0729825733494429 NA FALSE NA 0.977 1.427 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 2/5 1 NA GGA G,A 8.238e-06 1:46652639 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 intron_variant 0.62109 0.41488 0.6031 0.088506 0.533015004636201 0.235685 0.236382638181407 FALSE 2.87805e-05 ENSE00000957235_014 ENSE00000957235 014 1 47118197 47118366 - 56 48 66 G T 47118316 1835 51 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTATTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652643 46652644 46652644 upstr_intron -16 -0.227272727272727 ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTATTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 283 1109 0.996187624864628 0.999587138668617 0.997887381766623 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.101442995535475 0.0402969146966559 0.99510071091586 0.927017426650557 NA 0.0708699551160655 NA FALSE NA 0.255 0.427 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 2/5 1 NA AGA G,T 8.238e-06 1:46652644 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 intron_variant 0.677323 0.19134 0.2443 0.088506 0.658058920439549 0.229492 0.236382638181407 FALSE 8.24742e-06 ENSE00000957235_015 ENSE00000957235 015 1 47118197 47118366 - 56 48 66 A G 47118335 1836 32 ACATGTGATAGTGGCCTTTTGTGTTTTACTACGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652662 46652663 46652663 upstr_intron -35 -0.515151515151515 ACATGTGATAGTGGCCTTTTGTGTTTTACTACGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 306 359 0.999054759894552 0.977359618565196 0.988207189229874 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.104310130565399 0.0180693945932353 0.99510071091586 0.927017426650557 NA 0.0611897625793172 NA FALSE NA 0.073 0.673 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 2/5 1 NA CAT A,G 2.472e-05 1:46652663 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 intron_variant 0.085351 0.2174 0.09995 0.088506 0.581137935263035 0.132922 0.236382638181407 FALSE 2.58558e-05 ENSE00000957235_016 ENSE00000957235 016 1 47118197 47118366 - 56 48 66 T C 47118336 1837 31 ACATGTGATAGTGGCCTTTTGTGTTTTACTGTGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652663 46652664 46652664 upstr_intron -36 -0.53030303030303 ACATGTGATAGTGGCCTTTTGTGTTTTACTGTGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 257 1250 0.997899518746282 0.992338421053337 0.99511896989981 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.103154889417129 0.0330481970813759 0.99510071091586 0.927017426650557 NA 0.0681015432492526 NA FALSE NA 0.07 -0.945 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 2/5 rs374585795 1 NA C:0.0002 C:0 ATA T,C 1.648e-05 1:46652664 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 intron_variant -0.017277 0.10713 0.00064 0.088506 0.532337191205667 0.0851235 0.236382638181407 FALSE 8.60681e-06 ENSE00000957235_018 ENSE00000957235 018 1 47118197 47118366 - 56 48 66 C A 47118346 1839 21 ACATGTGATAGTGGCCTTTTTTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 46652673 46652674 46652674 upstr_intron -46 -0.681818181818182 ACATGTGATAGTGGCCTTTTTTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT mutant NA NA NA NA NA 267 381 0.985358739419748 0.986799116972901 0.986078928196324 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 NA NA 0.0906141100905949 0.0275088930009399 0.99510071091586 0.927017426650557 NA 0.0590615015457674 NA FALSE NA 0 -1.881 . intron_variant MODIFIER ATPAF1 HGNC 18803 ENST00000534216 2/5 1 NA ACA C,A 8.246e-06 1:46652674 ATPAF1 HGNC Symbol protein_coding 41130 ENSG00000123472 ENSE00003649150 intron_variant 1.055063 0.15214 0.01523 0.088506 0.680662406759929 0.0851235 0.236382638181407 FALSE 4.53544e-06 ENSE00000957235_BRK ENSE00000957235 BRK 1 47118197 47118366 - 56 48 66 A,G; T,T NA NA NA ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACTTGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACACCAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT 46652524 46652694 NA NA NA NA NA NA ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACTTGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACACCAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT ACATGTGATAGTGGCCTTTTGTGTTTTACTATGTGTAGGTTAACTTTATTCTTTTCCAACCTACAGGCAGAAAAGTTTGATTTGATCTGGAACCGGGCTCAGTCCTGTCCAACAGTAAGTTTCTGGTGATCACGTAAGGGTTGCTTATCAATGTTGCCAAACAAGTATTT control 73 116 0 0 0 NA NA NA NA NA 0.999688900000609 0.990512521831111 0.894744629329153 0.959290223971961 -0.999688900000609 -0.990512521831111 NA NA 0.99510071091586 0.927017426650557 -0.99510071091586 NA NA NA TRUE NA NA NA NA NA ATPAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATPAF1 NA NA NA ENSG00000123472 ENSE00003649150 NA NA NA NA NA NA NA 0.236382638181407 FALSE NA ENSE00000957325_000 ENSE00000957325 000 1 45341249 45341418 - 41 78 51 NA NA NA NA NA AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 NA NA NA NA NA NA AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT natural 33 54 0.997973707656365 0.987775829113532 0.992874768384949 2888 1432 0.972047389459986 0.991380283758751 0.981713836609368 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 0 0 0 0 0.992874768384949 0.981713836609368 0 0 0 FALSE FALSE NA NA NA NA NA EIF2B3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF2B3 NA NA NA ENSG00000070785 ENSE00000957325 NA NA NA NA NA NA NA 0.393440242907713 FALSE NA ENSE00000957325_001 ENSE00000957325 001 1 45341249 45341418 - 41 78 51 C T 45341264 1731 155 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGACATGAGATGTTCTTT 44875576 44875746 44875591 44875592 44875592 downstr_intron 26 1.65 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGACATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 641 775 0.840794244602972 0.994723921625273 0.917759083114122 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA -0.131253144857015 0.00334363786652203 0.992874768384949 0.981713836609368 NA -0.0639547534952463 NA FALSE NA 0 -0.747 rs145100471 intron_variant&non_coding_transcript_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1/2 rs145100471 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCC C,T 6.589e-05 1:44875592 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant 0.238229 0.12429 0.04781 0.295142 0.396657370442018 0.0591979 0.393440242907713 FALSE 5.68773e-05 ENSE00000957325_002 ENSE00000957325 002 1 45341249 45341418 - 41 78 51 C T 45341266 1732 153 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACAGGCATGAGATGTTCTTT 44875576 44875746 44875593 44875594 44875594 downstr_intron 24 1.6 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACAGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 593 459 1 0.983451261987982 0.991725630993991 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0279526105400137 -0.0079290217707686 0.992874768384949 0.981713836609368 NA 0.0100117943846226 NA FALSE NA 0 0.004 . intron_variant&non_coding_transcript_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1/2 1 NA CCG C,T 1.647e-05 1:44875594 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant -0.22524 0.0614 0.00027 0.295142 0.527008666758769 0.0616993 0.393440242907713 FALSE 1.62459e-05 ENSE00000957325_003 ENSE00000957325 003 1 45341249 45341418 - 41 78 51 G A 45341267 1733 152 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGATGGGCATGAGATGTTCTTT 44875576 44875746 44875594 44875595 44875595 downstr_intron 23 1.575 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGATGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 838 428 0.993536749294353 1 0.996768374647177 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0214893598343671 0.00861971624124946 0.992874768384949 0.981713836609368 NA 0.0150545380378083 NA FALSE NA 0 -0.038 . intron_variant&non_coding_transcript_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1/2 1 NA CGT G,A 8.236e-06 1:44875595 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant -0.034231 0.13022 0.01135 0.295142 0.455816982204911 0.0616993 0.393440242907713 FALSE 8.12288e-06 ENSE00000957325_004 ENSE00000957325 004 1 45341249 45341418 - 41 78 51 T A 45341268 1734 151 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGTCGGGCATGAGATGTTCTTT 44875576 44875746 44875595 44875596 44875596 downstr_intron 22 1.55 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGTCGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant 10 16 0.988753462162093 0.989645584796021 0.989199523479057 291 365 0.960129418593328 1 0.980064709296664 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 -0.00922024549427214 0.00186975568248848 -0.0119179708666579 0.00861971624124946 0.992874768384949 0.981713836609368 -0.00367524490589183 -0.00164912731270422 0.0020261175931876 FALSE FALSE 0 0.159 . intron_variant&non_coding_transcript_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1/2 1 NA GTC T,A 8.236e-06 1:44875596 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant 0.211552 0.21405 0.05371 0.295142 0.473336914120774 0.0616993 0.393440242907713 FALSE 8.12269e-06 ENSE00000957325_005 ENSE00000957325 005 1 45341249 45341418 - 41 78 51 C T 45341269 1735 150 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGAACGGGCATGAGATGTTCTTT 44875576 44875746 44875596 44875597 44875597 downstr_intron 21 1.525 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGAACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 188 283 0.997343191549964 0.994936751915556 0.99613997173276 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0252958020899779 0.00355646815680588 0.992874768384949 0.981713836609368 NA 0.0144261351233919 NA FALSE NA 0 0.201 . intron_variant&non_coding_transcript_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1/2 1 NA TCC C,T 8.236e-06 1:44875597 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant -0.025311 0.15953 0.02734 0.295142 0.612726434577066 0.0616993 0.393440242907713 FALSE 4.06121e-06 ENSE00000957325_006 ENSE00000957325 006 1 45341249 45341418 - 41 78 51 C T 45341279 1736 140 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAATGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875606 44875607 44875607 downstr_intron 11 1.275 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAATGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 546 337 0.985166880246476 1 0.992583440123238 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0131194907864902 0.00861971624124946 0.992874768384949 0.981713836609368 NA 0.0108696035138698 NA FALSE NA 0 -0.213 rs115577806 intron_variant&non_coding_transcript_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1/2 rs115577806 1 T:0.0036 T:0.0129 T:0.0014 NA T:0 T:0 T:0 T:0.0152 T:0 ACT C,T 0.001301 1:44875607 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant 0.532061 0.21582 0.05689 0.295142 0.682770106374371 0.272482 0.393440242907713 FALSE 0.00102741 ENSE00000957325_007 ENSE00000957325 007 1 45341249 45341418 - 41 78 51 A C 45341284 1737 135 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGGGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875611 44875612 44875612 downstr_intron 6 1.15 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGGGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 20 232 0 0 0 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA -0.972047389459986 -0.991380283758751 0.992874768384949 0.981713836609368 NA -0.981713836609368 NA TRUE NA 1 3.921 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW EIF2B3 HGNC 3259 ENST00000486491 1/2 rs377659612 1 NA C:0 C:0.0002 CAC A,C 1.647e-05 1:44875612 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 splice_region_variant 1.570866 0.976 0.95895 0.295142 0.935607685955078 0.863704 0.393440242907713 FALSE 1.62434e-05 ENSE00000957325_008 ENSE00000957325 008 1 45341249 45341418 - 41 78 51 A C 45341305 1738 114 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATGGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875632 44875633 44875633 exon -16 0.807692307692308 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATGGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant 26 52 0.995099616780257 0.991022206663418 0.993060911721837 1739 399 1 0.996291184496437 0.998145592248218 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 -0.00287409087610824 0.00324637754988522 0.0279526105400137 0.00491090073768619 0.992874768384949 0.981713836609368 0.000186143336888489 0.01643175563885 0.0162456123019615 FALSE FALSE 1 2.768 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1 NA CAA A,C 8.236e-06 1:44875633 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 missense_variant 2.528824 0.97888 0.92694 0.706298 0.993397407163254 0 0.393440242907713 FALSE 1.2182e-05 ENSE00000957325_009 ENSE00000957325 009 1 45341249 45341418 - 41 78 51 C T 45341317 1739 102 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCATCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875644 44875645 44875645 exon -28 0.653846153846154 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCATCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 145 156 1 1 1 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0279526105400137 0.00861971624124946 0.992874768384949 0.981713836609368 NA 0.0182861633906316 NA FALSE NA 0.375 -0.047 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 rs539187259 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 5.765e-05 1:44875645 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 synonymous_variant 1.959964 0.65761 0.07564 0.706298 0.525087692939514 0 0.393440242907713 FALSE 4.46679e-05 ENSE00000957325_010 ENSE00000957325 010 1 45341249 45341418 - 41 78 51 G A 45341318 1740 101 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTTGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875645 44875646 44875646 exon -29 0.641025641025641 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTTGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 1154 80 0.96949056675608 0.988862467840077 0.979176517298079 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA -0.00255682270390656 -0.00251781591867317 0.992874768384949 0.981713836609368 NA -0.00253731931128987 NA FALSE NA 0.413 2.527 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 rs199638815 1 NA CGA G,A 0.0004201 1:44875646 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 missense_variant 2.697889 0.82925 0.82934 0.706298 0.988918869888832 0 0.393440242907713 FALSE 0.000414203 ENSE00000957325_013 ENSE00000957325 013 1 45341249 45341418 - 41 78 51 C T 45341367 1743 52 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGATGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875694 44875695 44875695 exon 1 0.0128205128205128 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGATGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 311 806 0.00157524952417724 0.022101628026032 0.0118384387751046 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA -0.970472139935809 -0.969278655732719 0.992874768384949 0.981713836609368 NA -0.969875397834264 NA TRUE NA 1 1.964 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1 NA ACC C,T 8.236e-06 1:44875695 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 missense_variant 3.243053 0.96922 0.89276 0.706298 0.993504684832289 0 0.393440242907713 FALSE 4.06085e-06 ENSE00000957325_014 ENSE00000957325 014 1 45341249 45341418 - 41 78 51 C T 45341376 1744 43 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTATCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875703 44875704 44875704 upstr_intron -9 -0.156862745098039 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTATCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 1183 756 0.998916573688545 0.998884779302048 0.998900676495297 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0268691842285586 0.00750449554329768 0.992874768384949 0.981713836609368 NA 0.0171868398859281 NA FALSE NA 1 0.601 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1 NA ACA C,T 2.471e-05 1:44875704 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant 1.087427 0.82299 0.42985 0.099367 0.63153733925825 0.403239 0.393440242907713 FALSE 2.03056e-05 ENSE00000957325_015 ENSE00000957325 015 1 45341249 45341418 - 41 78 51 A C 45341379 1745 40 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCGCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875706 44875707 44875707 upstr_intron -12 -0.215686274509804 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCGCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant 60 58 0.85 0.85 0.85 481 389 0.665018474823523 0.806222309098313 0.735620391960918 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 -0.147973707656365 -0.137775829113532 -0.307028914636463 -0.185157974660437 0.992874768384949 0.981713836609368 -0.142874768384949 -0.24609344464845 0.103218676263502 FALSE FALSE 0.979 4.035 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1 NA GAG A,C 8.236e-06 1:44875707 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant 0.432996 0.95456 0.95276 0.099367 0.735194983029062 0.958138 0.393440242907713 FALSE 8.12242e-06 ENSE00000957325_016 ENSE00000957325 016 1 45341249 45341418 - 41 78 51 G A 45341380 1746 39 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATTTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875707 44875708 44875708 upstr_intron -13 -0.235294117647059 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATTTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 289 334 1 0.998504852464775 0.999252426232388 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0279526105400137 0.00712456870602474 0.992874768384949 0.981713836609368 NA 0.0175385896230192 NA FALSE NA 0.001 -1.05 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1 NA AGA G,A 1.647e-05 1:44875708 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant 0.074587 0.14131 0.00246 0.099367 0.524362802001759 0.272982 0.393440242907713 FALSE 8.12301e-06 ENSE00000957325_017 ENSE00000957325 017 1 45341249 45341418 - 41 78 51 G A 45341385 1747 34 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACTAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875712 44875713 44875713 upstr_intron -18 -0.333333333333333 AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACTAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 240 357 1 1 1 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0279526105400137 0.00861971624124946 0.992874768384949 0.981713836609368 NA 0.0182861633906316 NA FALSE NA 0.012 0.326 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 1 NA TGG G,A 8.236e-06 1:44875713 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant -0.140888 0.46971 0.09123 0.099367 0.380101434808368 0.250138 0.393440242907713 FALSE 4.06237e-06 ENSE00000957325_019 ENSE00000957325 019 1 45341249 45341418 - 41 78 51 C T 45341408 1749 11 AGCTACCTAAAGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 44875735 44875736 44875736 upstr_intron -41 -0.784313725490196 AGCTACCTAAAGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT mutant NA NA NA NA NA 33 330 1 0.999305042700642 0.999652521350321 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA 0.0279526105400137 0.00792475894189104 0.992874768384949 0.981713836609368 NA 0.0179386847409524 NA FALSE NA 0.223 0.361 . upstream_gene_variant MODIFIER EIF2B3 HGNC 3259 ENST00000486491 rs541662451 1 T:0.0018 T:0 T:0 NA T:0 T:0 T:0.0092 CCT ,T 0.0003871 1:44875736 EIF2B3 HGNC Symbol protein_coding 136200 ENSG00000070785 ENSE00000957325 intron_variant 0.143128 0.2304 0.02059 0.099367 0.650145789495334 0.0477024 0.393440242907713 FALSE 0.000281782 ENSE00000957325_BRK ENSE00000957325 BRK 1 45341249 45341418 - 41 78 51 A,G; T,T NA NA NA AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTATTGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGCCAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT 44875576 44875746 NA NA NA NA NA NA AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTATTGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGCCAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT AGCTACCTAAGGTGTTTTCTGATCTTTAGTGACCAAATCTCTGTCCTTAAGGTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTCCATTCGTCAGCCCAGATTGTCAGCAAACACCTGGTAAGTGCTAGTGTGGCCAGGACGGGCATGAGATGTTCTTT control NA NA NA NA NA 39 44 0 0 0 0.997973707656365 0.987775829113532 0.972047389459986 0.991380283758751 NA NA -0.972047389459986 -0.991380283758751 0.992874768384949 0.981713836609368 NA -0.981713836609368 NA TRUE NA NA NA NA NA NA EIF2B3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF2B3 NA NA NA ENSG00000070785 ENSE00000957325 NA NA NA NA NA NA NA 0.393440242907713 FALSE NA ENSE00000957489_000 ENSE00000957489 000 1 47030681 47030850 - 32 96 42 NA NA NA NA NA GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 NA NA NA NA NA NA GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT natural 37 61 0.99791426635793 0.995617713864539 0.996765990111234 5843 6095 0.976206255329017 0.974006333096291 0.975106294212654 0.99791426635793 0.995617713864539 0.976206255329017 0.974006333096291 0 0 0 0 0.996765990111234 0.975106294212654 0 0 0 FALSE FALSE NA NA NA NA NA MKNK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MKNK1 NA NA NA ENSG00000079277 ENSE00003583480 NA NA NA NA NA NA NA 0.000222399042685413 FALSE NA ENSE00000957489_BRK ENSE00000957489 BRK 1 47030681 47030850 - 32 96 42 A,G; T,T NA NA NA GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCTTGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCACCACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 NA NA NA NA NA NA GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCTTGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCACCACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT control 23 130 0 0.00501058682713095 0.00250529341356547 486 539 0.000617651625925718 0.0778506872342806 0.0392341694301032 0.99791426635793 0.995617713864539 0.976206255329017 0.974006333096291 -0.99791426635793 -0.990607127037408 -0.975588603703091 -0.896155645862011 0.996765990111234 0.975106294212654 -0.994260696697669 -0.935872124782551 0.0583885719151183 TRUE TRUE NA NA NA NA NA MKNK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MKNK1 NA NA NA ENSG00000079277 ENSE00003583480 NA NA NA NA NA NA NA 0.000222399042685413 FALSE NA ENSE00000957784_000 ENSE00000957784 000 1 95332840 95333009 + 47 87 36 NA NA NA NA NA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA 94867283 94867453 NA NA NA NA NA NA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA natural NA NA NA NA NA 667 353 0.999132993774856 0.97516787700289 0.987150435388873 NA NA 0.999132993774856 0.97516787700289 NA NA 0 0 NA 0.987150435388873 NA 0 NA FALSE NA NA NA NA NA NA SLC44A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC44A3 NA NA NA ENSG00000143036 ENSE00003511807 NA NA NA NA NA NA NA 1.8199523853244e-24 FALSE NA ENSE00000957784_004 ENSE00000957784 004 1 95332840 95333009 + 47 87 36 A G 95332891 2606 52 TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCGTGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA 94867283 94867453 94867334 94867335 94867335 exon 5 0.0574712643678161 TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCGTGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA mutant NA NA NA NA NA 236 70 1 0.990798978356151 0.995399489178076 NA NA 0.999132993774856 0.97516787700289 NA NA 0.000867006225144018 0.0156311013532613 NA 0.987150435388873 NA 0.00824905378920265 NA FALSE NA 0.499 0.74 . missense_variant MODERATE SLC44A3 HGNC 28689 ENST00000446120 11/14 1 tolerated(0.09) benign(0.001) NA CAT A,G 1.647e-05 1:94867335 SLC44A3 HGNC Symbol protein_coding 74904 ENSG00000143036 ENSE00003511807 missense_variant -0.761002 0.25074 0.15894 0.615465 0.446359435177106 0 1.8199523853244e-24 FALSE 1.70403e-05 ENSE00000957784_012 ENSE00000957784 012 1 95332840 95333009 + 47 87 36 T C 95332920 2614 81 TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGACGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA 94867283 94867453 94867363 94867364 94867364 exon 34 0.390804597701149 TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGACGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA mutant NA NA NA NA NA 32 195 1 1 1 NA NA 0.999132993774856 0.97516787700289 NA NA 0.000867006225144018 0.0248321229971099 NA 0.987150435388873 NA 0.012849564611127 NA FALSE NA 1 3.128 . missense_variant MODERATE SLC44A3 HGNC 28689 ENST00000446120 11/14 1 deleterious(0) possibly_damaging(0.847) NA ATG T,C 2.471e-05 1:94867364 SLC44A3 HGNC Symbol protein_coding 74904 ENSG00000143036 ENSE00003511807 missense_variant 4.421667 0.9832 0.95054 0.615465 0.987763958882195 0 1.8199523853244e-24 FALSE 1.24531e-05 ENSE00000957784_019 ENSE00000957784 019 1 95332840 95333009 + 47 87 36 C T 95332992 2621 153 TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGTCTCAGGAACACACAGAA 94867283 94867453 94867435 94867436 94867436 downstr_intron 19 1.54285714285714 TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGTCTCAGGAACACACAGAA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA mutant NA NA NA NA NA 104 1797 1 0.998976934203322 0.999488467101661 NA NA 0.999132993774856 0.97516787700289 NA NA 0.000867006225144018 0.023809057200432 NA 0.987150435388873 NA 0.012338031712788 NA FALSE NA 0 -0.312 . intron_variant MODIFIER SLC44A3 HGNC 28689 ENST00000446120 11/13 rs574700791 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCC C,T 8.237e-06 1:94867436 SLC44A3 HGNC Symbol protein_coding 74904 ENSG00000143036 ENSE00003511807 intron_variant 0.370499 0.18504 0.00621 0.078448 0.519948423744368 0.0492993 1.8199523853244e-24 FALSE 4.29701e-06 ENSE00000957784_BRK ENSE00000957784 BRK 1 95332840 95333009 + 47 87 36 A,G; T,T NA NA NA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCTTCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGCCACGTCTCTACCTCTTGCCTCAGGAACACACAGAA 94867283 94867453 NA NA NA NA NA NA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCTTCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGCCACGTCTCTACCTCTTGCCTCAGGAACACACAGAA TCCTGTGTTGTTTTTGACTCTGTTCCTTTGTTCTCAACCTGATCCAGCAGCATGGTGCATTGTCCAGGTACCTGTTCCGATGCTGCTACTGCTGTTTCTGGTGTCTTGACAAATACCTGCTCCATCTCAACCAGGTACGTCTCTACCTCTTGCCTCAGGAACACACAGAA control NA NA NA NA NA 357 140 0 0 0 NA NA 0.999132993774856 0.97516787700289 NA NA -0.999132993774856 -0.97516787700289 NA 0.987150435388873 NA -0.987150435388873 NA TRUE NA NA NA NA NA NA SLC44A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC44A3 NA NA NA ENSG00000143036 ENSE00003511807 NA NA NA NA NA NA NA 1.8199523853244e-24 FALSE NA ENSE00000957945_000 ENSE00000957945 000 1 120269586 120269755 + 41 99 30 NA NA NA NA NA TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG 119726962 119727132 NA NA NA NA NA NA TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG natural 16 24 0.99815255797739 0.994054581482543 0.996103569729966 1354 1103 0.999604207804183 0.941342309536908 0.970473258670546 0.99815255797739 0.994054581482543 0.999604207804183 0.941342309536908 0 0 0 0 0.996103569729966 0.970473258670546 0 0 0 FALSE FALSE NA NA NA NA NA PHGDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHGDH NA NA NA ENSG00000092621 ENSE00003622630 NA NA NA NA NA NA NA 0.000436998677210205 FALSE NA ENSE00000957945_003 ENSE00000957945 003 1 120269586 120269755 + 41 99 30 T C 120269621 3228 36 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGCTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG 119726962 119727132 119726997 119726998 119726998 upstr_intron -6 -0.121951219512195 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGCTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG mutant NA NA NA NA NA 311 26 0.950195198011887 0.987635480263743 0.968915339137815 0.99815255797739 0.994054581482543 0.999604207804183 0.941342309536908 NA NA -0.0494090097922958 0.0462931707268348 0.996103569729966 0.970473258670546 NA -0.00155791953273049 NA FALSE NA 0.948 1.824 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PHGDH HGNC 8923 ENST00000493622 5/6 1 NA GTT T,C 4.118e-05 1:119726998 PHGDH HGNC Symbol protein_coding 95815 ENSG00000092621 ENSE00003622630 splice_region_variant 1.809177 0.90592 0.75992 0.295142 0.938201149689499 0.531183 0.000436998677210205 FALSE 4.06085e-05 ENSE00000957945_004 ENSE00000957945 004 1 120269586 120269755 + 41 99 30 C T 120269637 3229 52 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAATAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG 119726962 119727132 119727013 119727014 119727014 exon 11 0.111111111111111 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAATAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG mutant NA NA NA NA NA 235 491 0.998235512786144 0.925720669323985 0.961978091055065 0.99815255797739 0.994054581482543 0.999604207804183 0.941342309536908 NA NA -0.00136869501803849 -0.0156216402129234 0.996103569729966 0.970473258670546 NA -0.00849516761548097 NA FALSE NA 0.01 1.432 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHGDH HGNC 8923 ENST00000493622 6/7 rs200037593 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 ACA .,T 9.884e-05 1:119727014 PHGDH HGNC Symbol protein_coding 95815 ENSG00000092621 ENSE00003622630 missense_variant 2.661376 0.64525 0.25487 0.722319 0.992243498959181 0 0.000436998677210205 FALSE 0.000121826 ENSE00000957945_010 ENSE00000957945 010 1 120269586 120269755 + 41 99 30 T C 120269682 3235 97 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGACTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG 119726962 119727132 119727058 119727059 119727059 exon -44 0.565656565656566 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGACTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG mutant NA NA NA NA NA 106 134 0.982912837242502 0.99681346355975 0.989863150401126 0.99815255797739 0.994054581482543 0.999604207804183 0.941342309536908 NA NA -0.0166913705616808 0.0554711540228419 0.996103569729966 0.970473258670546 NA 0.0193898917305805 NA FALSE NA 1 6.201 NA NA NA PHGDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:119727059 PHGDH HGNC Symbol protein_coding 95815 ENSG00000092621 ENSE00003622630 missense_variant 6.305082 0.96958 0.93712 0.722319 0.998716317177042 0 0.000436998677210205 FALSE 1.62431e-05 ENSE00000957945_012 ENSE00000957945 012 1 120269586 120269755 + 41 99 30 A G 120269691 3237 106 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGGGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG 119726962 119727132 119727067 119727068 119727068 exon -35 0.656565656565657 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGGGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG mutant NA NA NA NA NA 12 120 1 0.95 0.975 0.99815255797739 0.994054581482543 0.999604207804183 0.941342309536908 NA NA 0.000395792195817202 0.00865769046309162 0.996103569729966 0.970473258670546 NA 0.00452674132945441 NA FALSE NA 1 7.407 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHGDH HGNC 8923 ENST00000493622 6/7 1 NA GAG .,G 8.236e-06 1:119727068 PHGDH HGNC Symbol protein_coding 95815 ENSG00000092621 ENSE00003622630 missense_variant 6.793121 0.97028 0.95605 0.722319 0.999363584449914 0 0.000436998677210205 FALSE NA ENSE00000957945_020 ENSE00000957945 020 1 120269586 120269755 + 41 99 30 A G 120269724 3245 139 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAGGGTAAGATGTTGCTGGAACCCTGTGATGTGG 119726962 119727132 119727100 119727101 119727101 exon -2 0.98989898989899 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAGGGTAAGATGTTGCTGGAACCCTGTGATGTGG TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG mutant 80 169 0.85 0.85 0.85 NA NA NA NA NA 0.99815255797739 0.994054581482543 0.999604207804183 0.941342309536908 -0.14815255797739 -0.144054581482543 NA NA 0.996103569729966 0.970473258670546 -0.146103569729966 NA NA NA FALSE 1 1.222 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PHGDH HGNC 8923 ENST00000493622 6/7 1 NA AAG .,G 8.236e-06 1:119727101 PHGDH HGNC Symbol protein_coding 95815 ENSG00000092621 ENSE00003622630 missense_variant 2.241331 0.91879 0.73093 0.722319 0.987817969748055 0 0.000436998677210205 FALSE 4.06174e-06 ENSE00000957945_022 ENSE00000957945 022 1 120269586 120269755 + 41 99 30 A G 120269731 3247 146 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGGTGTTGCTGGAACCCTGTGATGTGG 119726962 119727132 119727107 119727108 119727108 downstr_intron 6 1.20689655172414 TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGGTGTTGCTGGAACCCTGTGATGTGG TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG mutant NA NA NA NA NA 189 34 1 1 1 0.99815255797739 0.994054581482543 0.999604207804183 0.941342309536908 NA NA 0.000395792195817202 0.0586576904630915 0.996103569729966 0.970473258670546 NA 0.0295267413294544 NA FALSE NA 0.895 1.575 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PHGDH HGNC 8923 ENST00000493622 6/6 rs371736796 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0036 G:0 GAT .,G 0.0004036 1:119727108 PHGDH HGNC Symbol protein_coding 95815 ENSG00000092621 ENSE00003622630 splice_region_variant 1.189729 0.91223 0.43686 0.256867 0.832873949754713 0.279493 0.000436998677210205 FALSE 0.000320961 ENSE00000957945_BRK ENSE00000957945 BRK 1 120269586 120269755 + 41 99 30 A,G; T,T NA NA NA TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCTTTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGCCAAGATGTTGCTGGAACCCTGTGATGTGG 119726962 119727132 NA NA NA NA NA NA TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCTTTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGCCAAGATGTTGCTGGAACCCTGTGATGTGG TGCTGACTTCAGCTTCTTTCCTTTTGCCTGTTTGGTTGCAGTTCATGGGAACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTAGCTACCCGGATGCAGTCCTTTGGGATGAAGGTAAGATGTTGCTGGAACCCTGTGATGTGG control 348 461 0 0 0 NA NA NA NA NA 0.99815255797739 0.994054581482543 0.999604207804183 0.941342309536908 -0.99815255797739 -0.994054581482543 NA NA 0.996103569729966 0.970473258670546 -0.996103569729966 NA NA NA TRUE NA NA NA NA NA PHGDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHGDH NA NA NA ENSG00000092621 ENSE00003622630 NA NA NA NA NA NA NA 0.000436998677210205 FALSE NA ENSE00000958445_000 ENSE00000958445 000 1 167659232 167659401 + 54 72 44 NA NA NA NA NA ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC 167689994 167690164 NA NA NA NA NA NA ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC natural 22 27 0.941629882500347 0.973985193167043 0.957807537833695 3614 2429 0.98763487486867 0.983902982285663 0.985768928577166 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 0 0 0 0 0.957807537833695 0.985768928577166 0 0 0 FALSE FALSE NA NA NA NA NA RCSD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RCSD1 NA NA NA ENSG00000198771 ENSE00000958445 NA NA NA NA NA NA NA 0.108221839863747 FALSE NA ENSE00000958445_002 ENSE00000958445 002 1 167659232 167659401 + 54 72 44 T C 167659254 4212 23 ACCCCACTTTCCTCACCTTACTCATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC 167689994 167690164 167690016 167690017 167690017 upstr_intron -32 -0.574074074074074 ACCCCACTTTCCTCACCTTACTCATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 208 212 0.996179053490938 1 0.998089526745469 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.00854417862226764 0.0160970177143375 0.957807537833695 0.985768928577166 NA 0.0123205981683026 NA FALSE NA 0 -0.32 . intron_variant MODIFIER RCSD1 HGNC 28310 ENST00000537350 2/5 1 NA TTA T,C 8.236e-06 1:167690017 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 intron_variant 0.025456 0.15735 0.00809 0.156188 0.591929136037837 0.160726 0.108221839863747 FALSE 4.0703e-06 ENSE00000958445_007 ENSE00000958445 007 1 167659232 167659401 + 54 72 44 A G 167659282 4217 51 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCGTAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC 167689994 167690164 167690044 167690045 167690045 upstr_intron -4 -0.0555555555555556 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCGTAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 122 861 0.995530551858611 0.999448547158355 0.997489549508483 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.00789567698994087 0.0155455648726922 0.957807537833695 0.985768928577166 NA 0.0117206209313165 NA FALSE NA 0 -1.314 . splice_region_variant&intron_variant LOW RCSD1 HGNC 28310 ENST00000537350 2/5 1 NA CAT A,G 8.236e-06 1:167690045 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 splice_region_variant -0.200723 0.16476 0.03398 0.295142 0.441559027047331 0.160726 0.108221839863747 FALSE 4.06141e-06 ENSE00000958445_008 ENSE00000958445 008 1 167659232 167659401 + 54 72 44 A T 167659287 4218 56 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGATATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC 167689994 167690164 167690049 167690050 167690050 exon 2 0.0277777777777778 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGATATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 29 11 1 1 1 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.0123651251313299 0.0160970177143375 0.957807537833695 0.985768928577166 NA 0.0142310714228337 NA FALSE NA 1 3.986 . missense_variant&splice_region_variant MODERATE RCSD1 HGNC 28310 ENST00000537350 3/6 1 deleterious(0) probably_damaging(1) NA AAA A,T 2.471e-05 1:167690050 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 missense_variant 5.420409 0.95966 0.94729 0.706548 0.995791163053094 0 0.108221839863747 FALSE 1.21841e-05 ENSE00000958445_009 ENSE00000958445 009 1 167659232 167659401 + 54 72 44 C T 167659295 4219 64 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCATCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC 167689994 167690164 167690057 167690058 167690058 exon 10 0.138888888888889 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCATCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 795 1398 0.994647751723304 0.999972773138279 0.997310262430791 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.00701287685463392 0.0160697908526165 0.957807537833695 0.985768928577166 NA 0.0115413338536252 NA FALSE NA 0.419 0.644 . missense_variant MODERATE RCSD1 HGNC 28310 ENST00000537350 3/6 1 tolerated(0.17) benign(0.114) NA ACC C,T 8.236e-06 1:167690058 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 missense_variant 0.96034 0.63296 0.37239 0.706548 0.897874276278831 0 0.108221839863747 FALSE 4.06111e-06 ENSE00000958445_011 ENSE00000958445 011 1 167659232 167659401 + 54 72 44 C T 167659302 4221 71 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGTGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC 167689994 167690164 167690064 167690065 167690065 exon 17 0.236111111111111 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGTGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 10 118 1 1 1 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.0123651251313299 0.0160970177143375 0.957807537833695 0.985768928577166 NA 0.0142310714228337 NA FALSE NA 0.557 3.147 . missense_variant MODERATE RCSD1 HGNC 28310 ENST00000537350 3/6 COSM3705214 1 deleterious(0.05) benign(0.22) NA GCG C,T 2.471e-05 1:167690065 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 missense_variant 2.509963 0.41402 0.5716 0.706548 0.983256958872213 0 0.108221839863747 FALSE 1.21846e-05 ENSE00000958445_012 ENSE00000958445 012 1 167659232 167659401 + 54 72 44 G A 167659303 4222 72 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCAAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC 167689994 167690164 167690065 167690066 167690066 exon 18 0.25 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCAAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 183 178 0.988890839194777 1 0.994445419597388 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.00125596432610653 0.0160970177143375 0.957807537833695 0.985768928577166 NA 0.008676491020222 NA FALSE NA 0 -2.681 . synonymous_variant LOW RCSD1 HGNC 28310 ENST00000537350 3/6 rs371440067&COSM3863429 1 NA CGA G,A 1.647e-05 1:167690066 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 synonymous_variant 0.745452 0.15364 0.03487 0.706548 0.350661240059678 0 0.108221839863747 FALSE 1.21838e-05 ENSE00000958445_021 ENSE00000958445 021 1 167659232 167659401 + 54 72 44 T C 167659363 4231 132 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGCGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC 167689994 167690164 167690125 167690126 167690126 downstr_intron 6 1.13953488372093 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGCGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 513 155 0.999701155218034 1 0.999850577609017 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.0120662803493644 0.0160970177143375 0.957807537833695 0.985768928577166 NA 0.0140816490318509 NA FALSE NA 0.678 0.6 . splice_region_variant&intron_variant LOW RCSD1 HGNC 28310 ENST00000537350 3/5 1 NA GTG T,C 8.236e-05 1:167690126 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 splice_region_variant 1.637175 0.92772 0.50935 0.095506 0.925382760667977 0.474971 0.108221839863747 FALSE 3.65797e-05 ENSE00000958445_023 ENSE00000958445 023 1 167659232 167659401 + 54 72 44 G C 167659383 4233 152 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTCCTACCTTTTATCTAACTC 167689994 167690164 167690145 167690146 167690146 downstr_intron 26 1.6046511627907 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTCCTACCTTTTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 392 241 0.996857710078117 0.883368459276627 0.940113084677372 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.00922283520944722 -0.100534523009036 0.957807537833695 0.985768928577166 NA -0.0456558438997942 NA FALSE NA 0.003 1.1 . intron_variant MODIFIER RCSD1 HGNC 28310 ENST00000537350 3/5 1 NA TGC G,C 4.118e-05 1:167690146 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 intron_variant -0.06009 0.31196 0.16291 0.095506 0.630143922791499 0.0595528 0.108221839863747 FALSE 3.66605e-05 ENSE00000958445_025 ENSE00000958445 025 1 167659232 167659401 + 54 72 44 T A 167659390 4235 159 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTATTATCTAACTC 167689994 167690164 167690152 167690153 167690153 downstr_intron 33 1.76744186046512 ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTATTATCTAACTC ACCCCACTTTCCTCACCTTACTTATCTGGTTGTTTTGGTTGATTTGCTCCATAGAAATCACCACCCAATGCGAGCCACCCTCCTAAATTCAAGGTCAAGAGCTCGCCTCTGATTGAGAAGCTTCAGGTAAGTGCAGAATTCATTGTCTATTGCTACCTTTTATCTAACTC mutant NA NA NA NA NA 420 68 1 1 1 0.941629882500347 0.973985193167043 0.98763487486867 0.983902982285663 NA NA 0.0123651251313299 0.0160970177143375 0.957807537833695 0.985768928577166 NA 0.0142310714228337 NA FALSE NA 0.001 0.427 . intron_variant MODIFIER RCSD1 HGNC 28310 ENST00000537350 3/5 1 NA TTT T,A 8.236e-06 1:167690153 RCSD1 HGNC Symbol protein_coding 76156 ENSG00000198771 ENSE00000958445 intron_variant 0.325278 0.20881 0.06383 0.095506 0.810579611360446 0.0595528 0.108221839863747 FALSE 1.22546e-05 ENSE00000958775_000 ENSE00000958775 000 1 162124141 162124310 + 54 72 44 NA NA NA NA NA ATTAGGGACACTTGCTACCCCTCCTCTCAATGAGTGTTTGCTTCTCCCCCACAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCAACAGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTGAGTGGCCAGAGGTGGACTGTGTGGAGCGGGGAGTCAAGTGC 162154350 162154520 NA NA NA NA NA NA ATTAGGGACACTTGCTACCCCTCCTCTCAATGAGTGTTTGCTTCTCCCCCACAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCAACAGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTGAGTGGCCAGAGGTGGACTGTGTGGAGCGGGGAGTCAAGTGC ATTAGGGACACTTGCTACCCCTCCTCTCAATGAGTGTTTGCTTCTCCCCCACAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCAACAGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTGAGTGGCCAGAGGTGGACTGTGTGGAGCGGGGAGTCAAGTGC natural 14 10 0.997326755268709 1 0.998663377634354 356 1403 0.996501467550041 0.996690875076308 0.996596171313175 0.997326755268709 1 0.996501467550041 0.996690875076308 0 0 0 0 0.998663377634354 0.996596171313175 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00000958775 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00000958989_000 ENSE00000958989 000 1 172037912 172038081 + 47 87 36 NA NA NA NA NA CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 NA NA NA NA NA NA AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG natural 47 97 0.991857782504626 0.982676959882164 0.987267371193395 6168 9074 0.942933803482755 0.936082766828446 0.939508285155601 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 0 0 0 0 0.987267371193395 0.939508285155601 0 0 0 FALSE FALSE NA NA NA NA NA DNM3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNM3 NA NA NA ENSG00000197959 ENSE00000958989 NA NA NA NA NA NA NA 0.028276990644479 FALSE NA ENSE00000958989_002 ENSE00000958989 002 1 172037912 172038081 + 47 87 36 T G 172037931 4261 20 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTCATACTCAAAAAGTTACACT 172068771 172068941 172068790 172068791 172068791 upstr_intron -28 -0.574468085106383 AGTGTAACTTTTTGAGTATGAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 479 829 1 0.998243765020213 0.999121882510106 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0570661965172452 0.0621609981917666 0.987267371193395 0.939508285155601 NA 0.0596135973545059 NA FALSE NA 0.004 0.284 . intron_variant MODIFIER DNM3 HGNC 29125 ENST00000367731 10/19 rs371407978 1 NA G:0 G:0.0001 TTA T,G 8.704e-06 1:172068791 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 intron_variant 0.62088 0.18258 0.11166 0.061011 0.668799630784983 0.0975996 0.028276990644479 FALSE 1.26568e-05 ENSE00000958989_003 ENSE00000958989 003 1 172037912 172038081 + 47 87 36 C G 172037936 4262 25 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGACTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068795 172068796 172068796 upstr_intron -23 -0.468085106382979 AGTGTAACTTTTTGAGTATTAATAGTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 158 290 0.938995201168273 0.999454255961965 0.969224728565119 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA -0.00393860231448162 0.0633714891335189 0.987267371193395 0.939508285155601 NA 0.0297164434095186 NA FALSE NA 0.185 0.951 . intron_variant MODIFIER DNM3 HGNC 29125 ENST00000367731 10/19 rs546494995 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 ACT C,G 6.032e-05 1:172068796 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 intron_variant 1.279569 0.20397 0.14755 0.061011 0.607491388110285 0.214544 0.028276990644479 FALSE 9.32627e-05 ENSE00000958989_004 ENSE00000958989 004 1 172037912 172038081 + 47 87 36 C T 172037938 4263 27 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTAAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068797 172068798 172068798 upstr_intron -21 -0.425531914893617 AGTGTAACTTTTTGAGTATTAATACTTAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 1901 2298 0.986702863432149 0.998832249332254 0.992767556382201 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0437690599493938 0.0627494825038074 0.987267371193395 0.939508285155601 NA 0.0532592712266006 NA FALSE NA 0.057 0.35 . intron_variant MODIFIER DNM3 HGNC 29125 ENST00000367731 10/19 1 NA TCA C,T 4.293e-05 1:172068798 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 intron_variant 1.628989 0.15372 0.01578 0.061011 0.782529327786718 0.206222 0.028276990644479 FALSE 2.46406e-05 ENSE00000958989_005 ENSE00000958989 005 1 172037912 172038081 + 47 87 36 A G 172037939 4264 28 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCCGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068798 172068799 172068799 upstr_intron -20 -0.404255319148936 AGTGTAACTTTTTGAGTATTAATACTCGGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 479 895 0.969132396456497 0.997021394803519 0.983076895630008 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0261985929737425 0.0609386279750724 0.987267371193395 0.939508285155601 NA 0.0435686104744075 NA FALSE NA 0.001 0.625 . intron_variant MODIFIER DNM3 HGNC 29125 ENST00000367731 10/19 1 NA CAG A,G 8.568e-06 1:172068799 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 intron_variant 1.333024 0.15544 0.05133 0.061011 0.779417729534846 0.273094 0.028276990644479 FALSE NA ENSE00000958989_006 ENSE00000958989 006 1 172037912 172038081 + 47 87 36 C A 172037956 4265 45 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTTTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068815 172068816 172068816 upstr_intron -3 -0.0425531914893617 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGAAAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant 17 27 0.956741013041386 0.929944896543099 0.943342954792242 NA NA NA NA NA 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 -0.0351167694632394 -0.052732063339065 NA NA 0.987267371193395 0.939508285155601 -0.0439244164011522 NA NA NA FALSE 0.925 1.519 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:172068816 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 splice_region_variant 2.170137 0.96316 0.76647 0.061011 0.790351084244939 0.455117 0.028276990644479 FALSE NA ENSE00000958989_007 ENSE00000958989 007 1 172037912 172038081 + 47 87 36 C T 172037956 4266 45 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTATCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068815 172068816 172068816 upstr_intron -3 -0.0425531914893617 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGATAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant 10 38 1 0.985305749910713 0.992652874955357 363 148 0.788752132613074 0.968345632227223 0.878548882420148 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 0.00814221749537436 0.00262879002854965 -0.154181670869681 0.0322628653987767 0.987267371193395 0.939508285155601 0.00538550376196201 -0.0609594027354523 0.0663449064974143 FALSE FALSE 0.925 1.519 NA NA NA DNM3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNM3 NA NA NA ENSG00000197959 ENSE00000958989 splice_region_variant 2.132956 0.95226 0.59727 0.061011 0.762891644097117 0.455117 0.028276990644479 FALSE NA ENSE00000958989_008 ENSE00000958989 008 1 172037912 172038081 + 47 87 36 C T 172037979 4267 68 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAAAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068838 172068839 172068839 exon 21 0.241379310344828 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTTTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant 15 10 1 1 1 NA NA NA NA NA 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 0.00814221749537436 0.0173230401178365 NA NA 0.987267371193395 0.939508285155601 0.0127326288066054 NA NA NA FALSE 0.225 -0.919 . synonymous_variant LOW DNM3 HGNC 29125 ENST00000367731 11/20 rs374583965&COSM1317620 1 NA T:0 T:0.0002 TCT C,T 3.345e-05 1:172068839 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 synonymous_variant 1.514045 0.94091 0.08307 0.553676 0.729166193481623 0 0.028276990644479 FALSE 2.67003e-05 ENSE00000958989_010 ENSE00000958989 010 1 172037912 172038081 + 47 87 36 C T 172037990 4269 79 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCATTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068849 172068850 172068850 exon 32 0.367816091954023 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAATGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 1943 603 0.998159630315238 1 0.999079815157619 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0552258268324831 0.0639172331715536 0.987267371193395 0.939508285155601 NA 0.0595715300020184 NA FALSE NA 0.996 4.532 . missense_variant MODERATE DNM3 HGNC 29125 ENST00000367731 11/20 rs375651951 1 tolerated(0.36) possibly_damaging(0.815) NA T:0.0003 T:0 ACG C,T 3.343e-05 1:172068850 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 missense_variant 3.28161 0.97162 0.8256 0.553676 0.997905170689108 0 0.028276990644479 FALSE NA ENSE00000958989_011 ENSE00000958989 011 1 172037912 172038081 + 47 87 36 G A 172037991 4270 80 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCTGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068850 172068851 172068851 exon 33 0.379310344827586 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACAGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 263 745 0.999259715515265 0.999787656362916 0.999523685939091 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0563259120325103 0.06370488953447 0.987267371193395 0.939508285155601 NA 0.0600154007834901 NA FALSE NA 0.077 -1.327 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:172068851 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 synonymous_variant 1.610714 0.82799 0.0232 0.553676 0.768026276424613 0 0.028276990644479 FALSE 8.989e-05 ENSE00000958989_012 ENSE00000958989 012 1 172037912 172038081 + 47 87 36 G T 172037991 4271 80 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCAGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068850 172068851 172068851 exon 33 0.379310344827586 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACTGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 1518 1169 0.993688289478008 0.998173221352275 0.995930755415142 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0507544859952535 0.0620904545238284 0.987267371193395 0.939508285155601 NA 0.0564224702595409 NA FALSE NA 0.077 -1.327 NA NA NA DNM3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNM3 NA NA NA ENSG00000197959 ENSE00000958989 synonymous_variant 0.87776 0.84143 0.04639 0.553676 0.718942955619455 0 0.028276990644479 FALSE NA ENSE00000958989_013 ENSE00000958989 013 1 172037912 172038081 + 47 87 36 A G 172037995 4272 84 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCCTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068854 172068855 172068855 exon 37 0.425287356321839 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAGGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 861 1047 0.968175560379585 0.997423359846949 0.982799460113267 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0252417568968297 0.0613405930185029 0.987267371193395 0.939508285155601 NA 0.0432911749576663 NA FALSE NA 1 0.88 . missense_variant MODERATE DNM3 HGNC 29125 ENST00000367731 11/20 1 deleterious(0) probably_damaging(0.931) NA AAG A,G 8.361e-06 1:172068855 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 missense_variant 5.517338 0.96446 0.65316 0.553676 0.998134620992646 0 0.028276990644479 FALSE NA ENSE00000958989_014 ENSE00000958989 014 1 172037912 172038081 + 47 87 36 C T 172038012 4273 101 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATATGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068871 172068872 172068872 exon -34 0.620689655172414 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCATATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant 16 33 0.996404045742179 0.994169183541498 0.995286614641838 743 436 0.991871527096093 1 0.995935763548047 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 0.00454626323755369 0.011492223659334 0.0489377236133385 0.0639172331715536 0.987267371193395 0.939508285155601 0.00801924344844385 0.0564274783924461 0.0484082349440022 FALSE FALSE 1 2.167 rs143938582 synonymous_variant LOW DNM3 HGNC 29125 ENST00000367731 11/20 rs143938582 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 ACA C,T 1.685e-05 1:172068872 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 synonymous_variant 1.439608 0.98318 0.78705 0.553676 0.756301323962117 0 0.028276990644479 FALSE NA ENSE00000958989_015 ENSE00000958989 015 1 172037912 172038081 + 47 87 36 A G 172038013 4274 102 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAACGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068872 172068873 172068873 exon -33 0.632183908045977 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACGTTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 278 502 0.869573870696275 1 0.934786935348138 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA -0.0733599327864793 0.0639172331715536 0.987267371193395 0.939508285155601 NA -0.00472134980746286 NA FALSE NA 1 5.41 . missense_variant MODERATE DNM3 HGNC 29125 ENST00000367731 11/20 1 tolerated(0.32) benign(0.044) NA CAT A,G 8.426e-06 1:172068873 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 missense_variant 1.737381 0.98103 0.91137 0.553676 0.998379776375939 0 0.028276990644479 FALSE 3.30619e-05 ENSE00000958989_016 ENSE00000958989 016 1 172037912 172038081 + 47 87 36 C G 172038016 4275 105 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACCAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068875 172068876 172068876 exon -30 0.666666666666667 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTGGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant 18 20 1 1 1 234 1480 1 0.921143138586885 0.960571569293442 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 0.00814221749537436 0.0173230401178365 0.0570661965172452 -0.0149396282415614 0.987267371193395 0.939508285155601 0.0127326288066054 0.0210632841378419 0.0083306553312365 FALSE FALSE 1 4.532 . missense_variant MODERATE DNM3 HGNC 29125 ENST00000367731 11/20 1 deleterious(0.01) probably_damaging(0.935) NA TCG C,G 1.688e-05 1:172068876 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 missense_variant 6.277096 0.97562 0.88036 0.553676 0.997602612717974 0 0.028276990644479 FALSE 5.56328e-06 ENSE00000958989_017 ENSE00000958989 017 1 172037912 172038081 + 47 87 36 G A 172038023 4276 112 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCCTTCTTGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068882 172068883 172068883 exon -23 0.747126436781609 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCAAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 637 726 0.955896545326783 0.999729573818287 0.977813059572535 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0129627418440285 0.0636468069898403 0.987267371193395 0.939508285155601 NA 0.0383047744169344 NA FALSE NA 1 5.713 . missense_variant MODERATE DNM3 HGNC 29125 ENST00000367731 11/20 1 tolerated(0.09) benign(0.038) NA CGA G,A 8.502e-06 1:172068883 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 missense_variant 4.459496 0.98312 0.91548 0.638212 0.99895469595665 0 0.028276990644479 FALSE NA ENSE00000958989_018 ENSE00000958989 018 1 172037912 172038081 + 47 87 36 G A 172038028 4277 117 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCTTCCTTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068887 172068888 172068888 exon -18 0.804597701149425 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAAGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 488 618 0.867213643778731 0.987777796164505 0.927495719971618 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA -0.0757201597040238 0.0516950293360582 0.987267371193395 0.939508285155601 NA -0.0120125651839828 NA FALSE NA 1 4.175 . missense_variant MODERATE DNM3 HGNC 29125 ENST00000367731 11/20 1 tolerated(0.11) benign(0.021) NA AGG G,A 8.52e-06 1:172068888 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 missense_variant 3.62588 0.9836 0.85192 0.638212 0.99800584439358 0 0.028276990644479 FALSE NA ENSE00000958989_019 ENSE00000958989 019 1 172037912 172038081 + 47 87 36 A C 172038032 4278 121 CAATCTCCCTGCCCACCAGGGAAGACCTCTCTTTACCTGGTCCTTTGTCGTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068891 172068892 172068892 exon -14 0.850574712643678 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGACGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 1544 766 0.99919763179407 0.996163020623073 0.997680326208571 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0562638283113148 0.0600802537946266 0.987267371193395 0.939508285155601 NA 0.0581720410529707 NA FALSE NA 1 2.965 . missense_variant MODERATE DNM3 HGNC 29125 ENST00000367731 11/20 1 tolerated(0.25) benign(0.085) NA AAG A,C 8.565e-06 1:172068892 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 missense_variant 2.632699 0.97198 0.8051 0.638212 0.995844338995013 0 0.028276990644479 FALSE NA ENSE00000958989_020 ENSE00000958989 020 1 172037912 172038081 + 47 87 36 G T 172038053 4279 142 CAATCTCCCTGCCCACCAGGGAAGACCTATCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068912 172068913 172068913 downstr_intron 8 1.22857142857143 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGATAGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 247 832 1 1 1 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0570661965172452 0.0639172331715536 0.987267371193395 0.939508285155601 NA 0.0604917148443994 NA FALSE NA 0 -0.403 . splice_region_variant&intron_variant LOW DNM3 HGNC 29125 ENST00000367731 11/19 1 NA AGA G,T 1.798e-05 1:172068913 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 splice_region_variant -0.029725 0.15201 0.02362 0.061011 0.272967178975461 0.109301 0.028276990644479 FALSE NA ENSE00000958989_021 ENSE00000958989 021 1 172037912 172038081 + 47 87 36 A T 172038054 4280 143 CAATCTCCCTGCCCACCAGGGAAGACCACTCTTTACCTGGTCCTTTGTCTTCCCTTCTCGCTCACGAATGTGGTTAGCAACAATCCTTTCCGTTTCCTCGCAGAGTCTGGGGAAGTTTGCCAGCTGTCAAGAAAAGCAGATCTGAGTATTAATACTCAAAAAGTTACACT 172068771 172068941 172068913 172068914 172068914 downstr_intron 9 1.25714285714286 AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGTGGTCTTCCCTGGTGGGCAGGGAGATTG AGTGTAACTTTTTGAGTATTAATACTCAGATCTGCTTTTCTTGACAGCTGGCAAACTTCCCCAGACTCTGCGAGGAAACGGAAAGGATTGTTGCTAACCACATTCGTGAGCGAGAAGGGAAGACAAAGGACCAGGTAAAGAGAGGTCTTCCCTGGTGGGCAGGGAGATTG mutant NA NA NA NA NA 201 975 0.97874839532296 0.995505026459992 0.987126710891476 0.991857782504626 0.982676959882164 0.942933803482755 0.936082766828446 NA NA 0.0358145918402047 0.0594222596315455 0.987267371193395 0.939508285155601 NA 0.0476184257358751 NA FALSE NA 0 0.389 . intron_variant MODIFIER DNM3 HGNC 29125 ENST00000367731 11/19 1 NA GAG A,T 1.802e-05 1:172068914 DNM3 HGNC Symbol protein_coding 576968 ENSG00000197959 ENSE00000958989 intron_variant 0.068564 0.14928 0.03258 0.061011 0.332490563878809 0.109301 0.028276990644479 FALSE 6.98422e-05 ENSE00000959081_000 ENSE00000959081 000 1 156767011 156767180 + 57 66 47 NA NA NA NA NA GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 NA NA NA NA NA NA ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC natural NA NA NA NA NA 4098 3635 0.980145357760287 0.965580969731989 0.972863163746138 NA NA 0.980145357760287 0.965580969731989 NA NA 0 0 NA 0.972863163746138 NA 0 NA FALSE NA NA NA NA NA NA PRCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRCC NA NA NA ENSG00000143294 ENSE00000959081 NA NA NA NA NA NA NA 0.921293121521907 TRUE NA ENSE00000959081_001 ENSE00000959081 001 1 156767011 156767180 + 57 66 47 T C 156767021 3802 11 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGGAGTTTCTCAT 156797218 156797388 156797228 156797229 156797229 upstr_intron -47 -0.807017543859649 ATGAGAAACTCCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 372 1156 1 1 1 NA NA 0.980145357760287 0.965580969731989 NA NA 0.0198546422397129 0.0344190302680113 NA 0.972863163746138 NA 0.0271368362538621 NA FALSE NA 0 0.153 . intron_variant MODIFIER PRCC HGNC 9343 ENST00000454659 4/5 1 NA TTC T,C 1.647e-05 1:156797229 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 non_coding_transcript_exon_variant 1.112984 0.26802 0.04681 0 0.823981984338463 0.161221 0.921293121521907 TRUE 2.44027e-05 ENSE00000959081_002 ENSE00000959081 002 1 156767011 156767180 + 57 66 47 C G 156767025 3803 15 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAACCAGAAGTTTCTCAT 156797218 156797388 156797232 156797233 156797233 upstr_intron -43 -0.736842105263158 ATGAGAAACTTCTGGTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 2429 104 0.996547131420746 1 0.998273565710373 NA NA 0.980145357760287 0.965580969731989 NA NA 0.0164017736604589 0.0344190302680113 NA 0.972863163746138 NA 0.0254104019642351 NA FALSE NA 0.083 0.116 . intron_variant MODIFIER PRCC HGNC 9343 ENST00000454659 4/5 1 NA GCT C,G 1.647e-05 1:156797233 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 non_coding_transcript_exon_variant 1.539352 0.3039 0.29626 0 0.733418950481273 0.161221 0.921293121521907 TRUE 8.13345e-06 ENSE00000959081_003 ENSE00000959081 003 1 156767011 156767180 + 57 66 47 G A 156767035 3804 25 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCATAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 156797242 156797243 156797243 upstr_intron -33 -0.56140350877193 ATGAGAAACTTCTGCTTTCATCCTATGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 607 448 0.919177379457745 0.991151850816545 0.955164615137145 NA NA 0.980145357760287 0.965580969731989 NA NA -0.0609679783025423 0.0255708810845559 NA 0.972863163746138 NA -0.0176985486089932 NA FALSE NA 0 -0.341 . intron_variant MODIFIER PRCC HGNC 9343 ENST00000454659 4/5 rs376710847 1 NA A:0.0002 A:0 TGT G,A 4.942e-05 1:156797243 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 non_coding_transcript_exon_variant 1.377855 0.31629 0.12903 0 0.746222758825172 0.160224 0.921293121521907 TRUE 4.87805e-05 ENSE00000959081_004 ENSE00000959081 004 1 156767011 156767180 + 57 66 47 G T 156767051 3805 41 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAAAATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 156797258 156797259 156797259 upstr_intron -17 -0.280701754385965 ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATTTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant 32 39 0.85 0.85 0.85 284 864 0.99839503709503 0.997244302319638 0.997819669707334 NA NA 0.980145357760287 0.965580969731989 NA NA 0.018249679334743 0.0316633325876496 NA 0.972863163746138 NA 0.0249565059611963 NA FALSE NA 0 -0.331 . intron_variant MODIFIER PRCC HGNC 9343 ENST00000454659 4/5 1 NA TGT G,T 8.236e-06 1:156797259 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 non_coding_transcript_exon_variant 1.07095 0.3411 0.04625 0 0.721594559632219 0.160123 0.921293121521907 TRUE 4.06448e-06 ENSE00000959081_005 ENSE00000959081 005 1 156767011 156767180 + 57 66 47 C A 156767091 3806 81 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGTCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 156797298 156797299 156797299 exon 24 0.363636363636364 ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGACAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 1146 1240 0.906257268871321 0.991155450956355 0.948706359913838 NA NA 0.980145357760287 0.965580969731989 NA NA -0.0738880888889665 0.0255744812243661 NA 0.972863163746138 NA -0.0241568038323002 NA FALSE NA 0.212 -0.354 . synonymous_variant LOW PRCC HGNC 9343 ENST00000454659 5/6 1 NA GCC C,A 2.471e-05 1:156797299 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 synonymous_variant 2.223857 0.865 0.1874 0.712529 0.787318123775921 0 0.921293121521907 TRUE 2.0327e-05 ENSE00000959081_006 ENSE00000959081 006 1 156767011 156767180 + 57 66 47 G T 156767112 3807 102 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATGAATAAGATATGTGATATGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 156797319 156797320 156797320 exon -22 0.681818181818182 ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCATATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 2698 519 0.997109658588627 0.999926639359298 0.998518148973963 NA NA 0.980145357760287 0.965580969731989 NA NA 0.01696430082834 0.0343456696273094 NA 0.972863163746138 NA 0.0256549852278247 NA FALSE NA 1 4.032 . missense_variant MODERATE PRCC HGNC 9343 ENST00000454659 5/6 COSM211975 1 tolerated(0.05) probably_damaging(1) NA AGA G,T 8.236e-06 1:156797320 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 missense_variant 6.226632 0.942 0.89072 0.712529 0.997579681051557 0 0.921293121521907 TRUE 4.06593e-06 ENSE00000959081_008 ENSE00000959081 008 1 156767011 156767180 + 57 66 47 C T 156767128 3809 118 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATAAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 156797335 156797336 156797336 exon -6 0.924242424242424 ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTTATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 1705 372 0.975281883477262 0.990825818003002 0.983053850740132 NA NA 0.980145357760287 0.965580969731989 NA NA -0.00486347428302469 0.0252448482710134 NA 0.972863163746138 NA 0.0101906869939943 NA FALSE NA 1 6.956 . missense_variant MODERATE PRCC HGNC 9343 ENST00000454659 5/6 1 deleterious(0.03) benign(0.295) NA TCA C,T 8.236e-06 1:156797336 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 missense_variant 5.603997 0.97135 0.94685 0.712529 0.99747171239094 0 0.921293121521907 TRUE 4.06686e-06 ENSE00000959081_010 ENSE00000959081 010 1 156767011 156767180 + 57 66 47 G C 156767144 3811 134 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGGTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 156797351 156797352 156797352 downstr_intron 11 1.23913043478261 ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACACCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 467 518 0.949848627722687 1 0.974924313861343 NA NA 0.980145357760287 0.965580969731989 NA NA -0.0302967300376001 0.0344190302680113 NA 0.972863163746138 NA 0.00206115011520558 NA FALSE NA 0.001 -0.29 . intron_variant MODIFIER PRCC HGNC 9343 ENST00000454659 5/5 1 NA AGC G,C 3.295e-05 1:156797352 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 intron_variant 0.184618 0.20582 0.03003 0 0.615915473939957 0.0823738 0.921293121521907 TRUE 3.66157e-05 ENSE00000959081_011 ENSE00000959081 011 1 156767011 156767180 + 57 66 47 C G 156767145 3812 135 GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCACCTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 156797352 156797353 156797353 downstr_intron 12 1.26086956521739 ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGGTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 303 91 1 0.98130934991567 0.990654674957835 NA NA 0.980145357760287 0.965580969731989 NA NA 0.0198546422397129 0.0157283801836809 NA 0.972863163746138 NA 0.0177915112116969 NA FALSE NA 0 -0.055 . intron_variant MODIFIER PRCC HGNC 9343 ENST00000454659 5/5 1 NA GCT C,G 8.236e-06 1:156797353 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 intron_variant 1.100742 0.24192 0.0398 0 0.667674568662711 0.0823738 0.921293121521907 TRUE NA ENSE00000959081_014 ENSE00000959081 014 1 156767011 156767180 + 57 66 47 T C 156767169 3815 159 GATTTACAGAGGTCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCACCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTCTGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 156797376 156797377 156797377 downstr_intron 36 1.78260869565217 ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGACCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC mutant NA NA NA NA NA 1491 590 0.99847790537094 0.998625450997334 0.998551678184137 NA NA 0.980145357760287 0.965580969731989 NA NA 0.0183325476106527 0.0330444812653456 NA 0.972863163746138 NA 0.0256885144379992 NA FALSE NA 0 0.174 . intron_variant MODIFIER PRCC HGNC 9343 ENST00000454659 5/5 1 NA ATC T,C 8.236e-06 1:156797377 PRCC HGNC Symbol protein_coding 50207 ENSG00000143294 ENSE00000959081 intron_variant 0.123057 0.27068 0.07141 0 0.614121637892432 0.0999269 0.921293121521907 TRUE 4.10341e-06 ENSE00000959081_BRK ENSE00000959081 BRK 1 156767011 156767180 + 57 66 47 A,G; T,T NA NA NA GATTTACAGAGATCCTGCCTGAGCCAGAGCCCTCAGCTGTCTCTCGGCTGATGAATAAGATATGTGATCTGGTGTTTCCGCCGCTGCTGGCCTGTTGGCTGCTCACCTTTCTTAAGCAAGAGAAGAAAACATATTCATTAATCCACAGGATGAAAGCAGAAGTTTCTCAT 156797218 156797388 NA NA NA NA NA NA ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCTTAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGCCGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC ATGAGAAACTTCTGCTTTCATCCTGTGGATTAATGAATATGTTTTCTTCTCTTGCAGAAGAAAGGTGAGCAGCCAACAGGCCAGCAGCGGCGGAAACACCAGATCACATATCTTATTCATCAGGTGAGAGACAGCTGAGGGCTCTGGCTCAGGCAGGATCTCTGTAAATC control NA NA NA NA NA 185 1175 0 0 0 NA NA 0.980145357760287 0.965580969731989 NA NA -0.980145357760287 -0.965580969731989 NA 0.972863163746138 NA -0.972863163746138 NA TRUE NA NA NA NA NA NA PRCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRCC NA NA NA ENSG00000143294 ENSE00000959081 NA NA NA NA NA NA NA 0.921293121521907 TRUE NA ENSE00000959231_000 ENSE00000959231 000 1 160169588 160169757 + 53 75 42 NA NA NA NA NA ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 NA NA NA NA NA NA ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC natural NA NA NA NA NA 1787 2627 0.998323347879701 0.92866460302197 0.963493975450835 NA NA 0.998323347879701 0.92866460302197 NA NA 0 0 NA 0.963493975450835 NA 0 NA FALSE NA NA NA NA NA NA RP11-536C5.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CASQ1 NA NA NA ENSG00000143318 ENSE00000959231 NA NA NA NA NA NA NA 1.03907088565768e-09 FALSE NA ENSE00000959231_003 ENSE00000959231 003 1 160169588 160169757 + 53 75 42 A G 160169610 3897 23 ATTCATGTGCTCCCTAGTATCTGTTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199819 160199820 160199820 upstr_intron -31 -0.566037735849057 ATTCATGTGCTCCCTAGTATCTGTTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 726 12 0.996605372875702 0.942702292733382 0.969653832804542 NA NA 0.998323347879701 0.92866460302197 NA NA -0.00171797500399917 0.0140376897114121 NA 0.963493975450835 NA 0.00615985735370644 NA FALSE NA 0 -0.528 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 1 NA TAT A,G 8.236e-06 1:160199820 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 intron_variant 0.166666 0.17066 0.01017 0.078448 0.567552987614483 0.0476315 1.03907088565768e-09 FALSE NA ENSE00000959231_005 ENSE00000959231 005 1 160169588 160169757 + 53 75 42 G A 160169621 3899 34 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTATATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199830 160199831 160199831 upstr_intron -20 -0.358490566037736 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTATATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 510 945 1 0.999665139374941 0.999832569687471 NA NA 0.998323347879701 0.92866460302197 NA NA 0.00167665212029877 0.0710005363529717 NA 0.963493975450835 NA 0.0363385942366352 NA FALSE NA 0 -3.184 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 1 NA TGT G,A 8.236e-06 1:160199831 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 intron_variant -0.030148 0.10521 0.0057 0.078448 0.738169068727682 0.0476315 1.03907088565768e-09 FALSE 4.06468e-06 ENSE00000959231_006 ENSE00000959231 006 1 160169588 160169757 + 53 75 42 T C 160169624 3900 37 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTACTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199833 160199834 160199834 upstr_intron -17 -0.30188679245283 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTACTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 71 15 0.895617006964907 1 0.947808503482454 NA NA 0.998323347879701 0.92866460302197 NA NA -0.102706340914794 0.0713353969780304 NA 0.963493975450835 NA -0.0156854719683818 NA FALSE NA 0.037 0.357 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 rs543363088 1 C:0.0004 C:0 C:0.0029 NA C:0 C:0 C:0 ATT T,C 1.647e-05 1:160199834 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 intron_variant 0.974818 0.20949 0.04632 0.078448 0.753021741582671 0.0481939 1.03907088565768e-09 FALSE 4.06369e-06 ENSE00000959231_009 ENSE00000959231 009 1 160169588 160169757 + 53 75 42 C T 160169635 3903 48 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTTTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199844 160199845 160199845 upstr_intron -6 -0.0943396226415094 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTTTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 111 385 1 1 1 NA NA 0.998323347879701 0.92866460302197 NA NA 0.00167665212029877 0.0713353969780304 NA 0.963493975450835 NA 0.0365060245491646 NA FALSE NA 0 0.543 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 1 NA TCT C,T 8.236e-06 1:160199845 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 splice_region_variant 1.709872 0.26048 0.07863 0.078448 0.774353908606249 0.42623 1.03907088565768e-09 FALSE 8.12282e-06 ENSE00000959231_010 ENSE00000959231 010 1 160169588 160169757 + 53 75 42 G A 160169640 3904 53 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAACTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199849 160199850 160199850 upstr_intron -1 0 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAACTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant 30 15 0 0 0 494 71 0 0 0 NA NA 0.998323347879701 0.92866460302197 NA NA -0.998323347879701 -0.92866460302197 NA 0.963493975450835 NA -0.963493975450835 NA TRUE NA 1 8.833 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 rs561539993 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGC G,A 8.236e-06 1:160199850 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 splice_acceptor_variant 5.620985 0.99367 0.98477 0.078448 0.995206181317395 0.990751 1.03907088565768e-09 FALSE 4.06121e-06 ENSE00000959231_011 ENSE00000959231 011 1 160169588 160169757 + 53 75 42 T C 160169650 3905 63 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCACACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199859 160199860 160199860 exon 10 0.133333333333333 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCACACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 523 367 0.991656423933606 1 0.995828211966803 NA NA 0.998323347879701 0.92866460302197 NA NA -0.00666692394609558 0.0713353969780304 NA 0.963493975450835 NA 0.0323342365159674 NA FALSE NA 1 2.859 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 rs371370189 1 NA C:0.0002 C:0 ATA T,C 8.236e-06 1:160199860 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 missense_variant 4.440644 0.97985 0.85932 0.554377 0.988861979454276 0 1.03907088565768e-09 FALSE 8.12222e-06 ENSE00000959231_013 ENSE00000959231 013 1 160169588 160169757 + 53 75 42 G A 160169664 3907 77 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACATTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199873 160199874 160199874 exon 24 0.32 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACATTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 660 242 0.883463682483298 0.999345915535499 0.941404799009399 NA NA 0.998323347879701 0.92866460302197 NA NA -0.114859665396403 0.0706813125135292 NA 0.963493975450835 NA -0.0220891764414369 NA FALSE NA 0 -2.211 rs139249867 downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 rs139249867 1 NA A:0 A:0.0003 CGT G,A 0.0002553 1:160199874 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 synonymous_variant 1.679104 0.36663 0.02961 0.554377 0.836170799697528 0 1.03907088565768e-09 FALSE 0.000227409 ENSE00000959231_014 ENSE00000959231 014 1 160169588 160169757 + 53 75 42 C T 160169673 3908 86 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATTGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199882 160199883 160199883 exon 33 0.44 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATTGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 30 78 1 1 1 NA NA 0.998323347879701 0.92866460302197 NA NA 0.00167665212029877 0.0713353969780304 NA 0.963493975450835 NA 0.0365060245491646 NA FALSE NA 0.974 0.089 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 1 NA TCG C,T 4.942e-05 1:160199883 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 synonymous_variant 2.55284 0.96802 0.59206 0.615465 0.769901016248881 0 1.03907088565768e-09 FALSE 4.06111e-05 ENSE00000959231_015 ENSE00000959231 015 1 160169588 160169757 + 53 75 42 G A 160169674 3909 87 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCAACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199883 160199884 160199884 exon 34 0.453333333333333 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCAACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 24 20 1 1 1 NA NA 0.998323347879701 0.92866460302197 NA NA 0.00167665212029877 0.0713353969780304 NA 0.963493975450835 NA 0.0365060245491646 NA FALSE NA 1 8.833 NA NA NA RP11-536C5.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160199884 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 missense_variant 7.243346 0.99367 0.98477 0.615465 0.999341267379606 0 1.03907088565768e-09 FALSE 3.24876e-05 ENSE00000959231_019 ENSE00000959231 019 1 160169588 160169757 + 53 75 42 G A 160169701 3913 114 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCATCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199910 160199911 160199911 exon -15 0.813333333333333 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCATCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 849 502 0.997594736923215 0.997692762629609 0.997643749776412 NA NA 0.998323347879701 0.92866460302197 NA NA -0.000728610956486242 0.0690281596076391 NA 0.963493975450835 NA 0.0341497743255764 NA FALSE NA 1 7.025 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 COSM898227 1 NA CGT G,A 8.236e-06 1:160199911 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 missense_variant 5.484301 0.98932 0.96843 0.615465 0.998926952225184 0 1.03907088565768e-09 FALSE 1.62454e-05 ENSE00000959231_020 ENSE00000959231 020 1 160169588 160169757 + 53 75 42 A G 160169705 3914 118 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAGTGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC 160199797 160199967 160199914 160199915 160199915 exon -11 0.866666666666667 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAGTGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 741 181 1 0.999125223101882 0.999562611550941 NA NA 0.998323347879701 0.92866460302197 NA NA 0.00167665212029877 0.0704606200799126 NA 0.963493975450835 NA 0.0360686361001057 NA FALSE NA 1 8.358 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 rs376318550 1 G:0.0012 G:0 G:0 NA G:0 G:0 G:0.0061 AAT A,G 0.0005683 1:160199915 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 missense_variant 5.439541 0.99157 0.98354 0.615465 0.996683280553026 0 1.03907088565768e-09 FALSE 0.000458954 ENSE00000959231_024 ENSE00000959231 024 1 160169588 160169757 + 53 75 42 C T 160169737 3918 150 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCTGGGTTGACCCCCGACTCTAC 160199797 160199967 160199946 160199947 160199947 downstr_intron 22 1.53658536585366 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCTGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 131 339 1 0.925719540825016 0.962859770412508 NA NA 0.998323347879701 0.92866460302197 NA NA 0.00167665212029877 -0.00294506219695401 NA 0.963493975450835 NA -0.000634205038327618 NA FALSE NA 0.009 1.728 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160199947 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 intron_variant 0.273266 0.27513 0.1676 0.053691 0.550220576496736 0.0651831 1.03907088565768e-09 FALSE 1.22051e-05 ENSE00000959231_025 ENSE00000959231 025 1 160169588 160169757 + 53 75 42 C G 160169737 3919 150 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCGGGGTTGACCCCCGACTCTAC 160199797 160199967 160199946 160199947 160199947 downstr_intron 22 1.53658536585366 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCGGGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 422 16 1 1 1 NA NA 0.998323347879701 0.92866460302197 NA NA 0.00167665212029877 0.0713353969780304 NA 0.963493975450835 NA 0.0365060245491646 NA FALSE NA 0.009 1.728 NA NA NA RP11-536C5.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CASQ1 NA NA NA ENSG00000143318 ENSE00000959231 intron_variant 0.132744 0.28692 0.20101 0.053691 0.394180225618984 0.0651831 1.03907088565768e-09 FALSE 4.06838e-06 ENSE00000959231_026 ENSE00000959231 026 1 160169588 160169757 + 53 75 42 G A 160169738 3920 151 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCAGGTTGACCCCCGACTCTAC 160199797 160199967 160199947 160199948 160199948 downstr_intron 23 1.5609756097561 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCAGGTTGACCCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 831 43 0.999553441207294 0.996304071575541 0.997928756391417 NA NA 0.998323347879701 0.92866460302197 NA NA 0.0012300933275925 0.0676394685535712 NA 0.963493975450835 NA 0.0344347809405818 NA FALSE NA 0 -2.506 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 rs565427637 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGG G,A 0.0001153 1:160199948 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 intron_variant -0.284008 0.13389 0.01155 0.053691 0.680784591418039 0.0651831 1.03907088565768e-09 FALSE 7.73043e-05 ENSE00000959231_028 ENSE00000959231 028 1 160169588 160169757 + 53 75 42 C A 160169745 3922 158 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGAACCCCGACTCTAC 160199797 160199967 160199954 160199955 160199955 downstr_intron 30 1.73170731707317 ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGAACCCCGACTCTAC ATTCATGTGCTCCCTAGTATCTATTAAGTTGCTGTATTTTGATCTCTCTACAGCTGGTCCCATACTGGGAGAAGACGTTTGACATCGACTTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGATGTGAGTTTCCTGTCCTCATCCCGGGTTGACCCCCGACTCTAC mutant NA NA NA NA NA 55 58 1 1 1 NA NA 0.998323347879701 0.92866460302197 NA NA 0.00167665212029877 0.0713353969780304 NA 0.963493975450835 NA 0.0365060245491646 NA FALSE NA 0 -0.483 . downstream_gene_variant MODIFIER RP11-536C5.7 Clone_based_vega_gene NA ENST00000418602 rs532505225 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 ACC C,A 0.0001235 1:160199955 CASQ1 HGNC Symbol protein_coding 11330 ENSG00000143318 ENSE00000959231 intron_variant 0.395683 0.1962 0.05493 0.053691 0.626970624201921 0.0651831 1.03907088565768e-09 FALSE 0.000105919 ENSE00000959601_000 ENSE00000959601 000 1 151536333 151536502 + 47 87 36 NA NA NA NA NA GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 NA NA NA NA NA NA GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC natural 16 28 0.998850954187859 0.976801556375747 0.987826255281803 4146 4321 0.972419984038229 0.911595432681462 0.942007708359846 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 0 0 0 0 0.987826255281803 0.942007708359846 0 0 0 FALSE FALSE NA NA NA NA NA TUFT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUFT1 NA NA NA ENSG00000143367 ENSE00003588108 NA NA NA NA NA NA NA 0.0180800994157088 FALSE NA ENSE00000959601_003 ENSE00000959601 003 1 151536333 151536502 + 47 87 36 T G 151536375 3460 43 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATGTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563898 151563899 151563899 upstr_intron -5 -0.0851063829787234 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATGTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 261 160 0.8 0.801578152002748 0.800789076001374 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA -0.172419984038229 -0.110017280678714 0.987826255281803 0.942007708359846 NA -0.141218632358472 NA FALSE NA 0.053 1.128 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TUFT1 HGNC 12422 ENST00000461859 1/2 1 NA TTT T,G 1.647e-05 1:151563899 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 splice_region_variant 1.141556 0.20989 0.11878 0.106106 0.828316627980418 0.266993 0.0180800994157088 FALSE 4.06167e-06 ENSE00000959601_004 ENSE00000959601 004 1 151536333 151536502 + 47 87 36 G A 151536388 3461 56 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTAAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563911 151563912 151563912 exon 9 0.103448275862069 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTAAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 2666 876 0.999387322396153 0.999638750760389 0.999513036578271 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA 0.0269673383579238 0.0880433180789267 0.987826255281803 0.942007708359846 NA 0.0575053282184252 NA FALSE NA 1 0.854 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 1 NA TGA G,A 1.647e-05 1:151563912 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 synonymous_variant 1.263215 0.96296 0.71476 0.732398 0.772395656371681 0 0.0180800994157088 FALSE 2.03094e-05 ENSE00000959601_005 ENSE00000959601 005 1 151536333 151536502 + 47 87 36 T A 151536400 3462 68 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCAGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563923 151563924 151563924 exon 21 0.241379310344828 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCAGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 659 615 0.996963359910518 0.978851815398527 0.987907587654522 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA 0.0245433758722894 0.0672563827170642 0.987826255281803 0.942007708359846 NA 0.0458998792946768 NA FALSE NA 1 0.879 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 1 NA CTG T,A 8.236e-06 1:151563924 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 synonymous_variant 1.237384 0.94447 0.65492 0.732398 0.845677305991609 0 0.0180800994157088 FALSE 4.06124e-06 ENSE00000959601_007 ENSE00000959601 007 1 151536333 151536502 + 47 87 36 C T 151536418 3464 86 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCATGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563941 151563942 151563942 exon 39 0.448275862068966 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCATGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 165 920 0.963235215812246 0.997077110078481 0.980156162945363 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA -0.00918476822598335 0.085481677397019 0.987826255281803 0.942007708359846 NA 0.0381484545855178 NA FALSE NA 0.011 -1.84 rs150841975 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 rs150841975 1 NA T:0.0002 T:0.0001 ACG C,T 8.236e-05 1:151563942 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 synonymous_variant 0.800634 0.13143 0.00433 0.732398 0.793086668474231 0 0.0180800994157088 FALSE 6.09256e-05 ENSE00000959601_008 ENSE00000959601 008 1 151536333 151536502 + 47 87 36 G A 151536419 3465 87 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACAAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563942 151563943 151563943 exon 40 0.459770114942529 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACAAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 37 1317 1 0.887588581456048 0.943794290728024 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA 0.027580015961771 -0.0240068512254143 0.987826255281803 0.942007708359846 NA 0.0017865823681783 NA FALSE NA 1 5.205 rs189101009 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 rs189101009 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGA G,A 0.0001153 1:151563943 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 missense_variant 6.256457 0.97493 0.92699 0.732398 0.999239995561551 0 0.0180800994157088 FALSE 0.000121849 ENSE00000959601_009 ENSE00000959601 009 1 151536333 151536502 + 47 87 36 A G 151536420 3466 88 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGGGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563943 151563944 151563944 exon 41 0.471264367816092 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGGGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant 157 114 0.880391413802243 0.901949869665993 0.891170641734118 1009 2865 0.994683400711763 0.998889803635001 0.996786602173382 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 -0.118459540385617 -0.0748516867097534 0.0222634166735337 0.087294370953539 0.987826255281803 0.942007708359846 -0.0966556135476851 0.0547788938135363 0.151434507361221 FALSE FALSE 1 4.922 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 1 NA GAG A,G 8.236e-06 1:151563944 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 missense_variant 4.63112 0.97309 0.92395 0.732398 0.998885478133941 0 0.0180800994157088 FALSE 4.06134e-06 ENSE00000959601_010 ENSE00000959601 010 1 151536333 151536502 + 47 87 36 A C 151536432 3467 100 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTACCCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563955 151563956 151563956 exon -35 0.609195402298851 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTACCCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 726 887 0.990506660660861 0.995925562325853 0.993216111493357 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA 0.018086676622632 0.0843301296443909 0.987826255281803 0.942007708359846 NA 0.0512084031335114 NA FALSE NA 0.005 0.877 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 1 NA AAC A,C 8.236e-06 1:151563956 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 missense_variant 0.860675 0.88451 0.11295 0.732398 0.968320155974365 0 0.0180800994157088 FALSE 4.06111e-06 ENSE00000959601_012 ENSE00000959601 012 1 151536333 151536502 + 47 87 36 G A 151536449 3469 117 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGATCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563972 151563973 151563973 exon -18 0.804597701149425 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGATCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 1514 1026 0.999700615298724 0.998035709859195 0.99886816257896 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA 0.0272806312604951 0.0864402771777329 0.987826255281803 0.942007708359846 NA 0.056860454219114 NA FALSE NA 1 5.205 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 1 NA GGT G,A 8.236e-06 1:151563973 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 missense_variant 5.952 0.97674 0.92826 0.732398 0.9985955986808 0 0.0180800994157088 FALSE 4.062e-06 ENSE00000959601_013 ENSE00000959601 013 1 151536333 151536502 + 47 87 36 C G 151536451 3470 119 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTGCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563974 151563975 151563975 exon -16 0.827586206896552 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTGCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 1025 652 0.988142842828371 0.999757358360053 0.993950100594212 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA 0.0157228587901418 0.0881619256785908 0.987826255281803 0.942007708359846 NA 0.0519423922343663 NA FALSE NA 0.947 -0.25 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 1 NA TCC C,G 8.236e-06 1:151563975 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 synonymous_variant 1.011525 0.92689 0.4955 0.732398 0.786332695139935 0 0.0180800994157088 FALSE NA ENSE00000959601_014 ENSE00000959601 014 1 151536333 151536502 + 47 87 36 A C 151536462 3471 130 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCCGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 151563985 151563986 151563986 exon -5 0.954022988505747 GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCCGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC mutant NA NA NA NA NA 489 1543 0.995512923591147 0.997841433526037 0.996677178558592 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 NA NA 0.0230929395529178 0.0862460008445743 0.987826255281803 0.942007708359846 NA 0.0546694701987461 NA FALSE NA 1 4.922 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/3 rs374164451 1 NA G:0.0002 G:0 CAG A,C 1.647e-05 1:151563986 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003588108 missense_variant 4.269811 0.97368 0.92963 0.732398 0.993400581957566 0 0.0180800994157088 FALSE 8.12764e-06 ENSE00000959601_BRK ENSE00000959601 BRK 1 151536333 151536502 + 47 87 36 A,G; T,T NA NA NA GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCTTGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGCCGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC 151563856 151564026 NA NA NA NA NA NA GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCTTGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGCCGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC GTTAATTTAATTTGAGGTTTCTTAACTAAATGGTGTTCTTATTTCAGGTGTACTTGAAGGGGAGGTCTGGAGACAAGATGATTCACGAGAAGAATATTAACCAGCTGAAGAGTGAGGTCCAGTACATCCAGGAGGTGGGCACCCCTTACCTCTCACGCAGTGCCTAGGTC control 41 47 0.85 0.85 0.85 NA NA NA NA NA 0.998850954187859 0.976801556375747 0.972419984038229 0.911595432681462 -0.148850954187859 -0.126801556375747 NA NA 0.987826255281803 0.942007708359846 -0.137826255281803 NA NA NA FALSE NA NA NA NA NA TUFT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUFT1 NA NA NA ENSG00000143367 ENSE00003588108 NA NA NA NA NA NA NA 0.0180800994157088 FALSE NA ENSE00000959602_000 ENSE00000959602 000 1 151536956 151537125 + 45 90 35 NA NA NA NA NA CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 NA NA NA NA NA NA TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG natural 14 42 0.999379087773174 0.998004686483194 0.998691887128184 783 986 0.989347550094197 0.999839568816069 0.994593559455133 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 0 0 0 0 0.998691887128184 0.994593559455133 0 0 0 FALSE FALSE NA NA NA NA NA TUFT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUFT1 NA NA NA ENSG00000143367 ENSE00003524221 NA NA NA NA NA NA NA 0.0180800994157088 FALSE NA ENSE00000959602_001 ENSE00000959602 001 1 151536956 151537125 + 45 90 35 C T 151536966 3477 11 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGATAGAGAAAGA 151564479 151564649 151564489 151564490 151564490 upstr_intron -35 -0.755555555555556 TCTTTCTCTATCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 426 79 1 0.976020263366443 0.988010131683222 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0106524499058029 -0.0238193054496253 0.998691887128184 0.994593559455133 NA -0.00658342777191118 NA FALSE NA 0 -0.551 . intron_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/2 1 NA ACC C,T 0.0001236 1:151564490 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 intron_variant 1.23616 0.13943 0.00907 0.062308 0.751486012532561 0.309106 0.0180800994157088 FALSE 8.88558e-05 ENSE00000959602_002 ENSE00000959602 002 1 151536956 151537125 + 45 90 35 C G 151536967 3478 12 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGCGTAGAGAAAGA 151564479 151564649 151564490 151564491 151564491 upstr_intron -34 -0.733333333333333 TCTTTCTCTACGCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 329 162 0.999498577883257 0.992626299453732 0.996062438668494 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0101510277890596 -0.00721326936233668 0.998691887128184 0.994593559455133 NA 0.00146887921336147 NA FALSE NA 0 0.517 . intron_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/2 1 NA CCC C,G 8.237e-06 1:151564491 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 intron_variant 1.392267 0.40492 0.12234 0.062308 0.73796757571408 0.309106 0.0180800994157088 FALSE 4.2161e-06 ENSE00000959602_003 ENSE00000959602 003 1 151536956 151537125 + 45 90 35 C T 151536968 3479 13 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAAGGTAGAGAAAGA 151564479 151564649 151564491 151564492 151564492 upstr_intron -33 -0.711111111111111 TCTTTCTCTACCTTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 915 572 0.990714614725633 0.999723410047794 0.995219012386713 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.00136706463143565 -0.000116158768274643 0.998691887128184 0.994593559455133 NA 0.000625452931580506 NA FALSE NA 0.001 1.015 . intron_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/2 1 NA CCT C,T 2.471e-05 1:151564492 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 intron_variant 1.503241 0.39531 0.11634 0.062308 0.773302339611588 0.309106 0.0180800994157088 FALSE 2.52203e-05 ENSE00000959602_005 ENSE00000959602 005 1 151536956 151537125 + 45 90 35 A G 151536972 3481 17 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCCTTAGGGTAGAGAAAGA 151564479 151564649 151564495 151564496 151564496 upstr_intron -29 -0.622222222222222 TCTTTCTCTACCCTAAGGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 445 121 1 0.998090273399059 0.999045136699529 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0106524499058029 -0.00174929541701019 0.998691887128184 0.994593559455133 NA 0.00445157724439638 NA FALSE NA 0.001 0.718 . intron_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/2 1 NA AAG A,G 1.647e-05 1:151564496 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 intron_variant 1.434024 0.15411 0.04673 0.062308 0.752834967227647 0.307237 0.0180800994157088 FALSE 2.90951e-05 ENSE00000959602_006 ENSE00000959602 006 1 151536956 151537125 + 45 90 35 C G 151536987 3482 32 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGCGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564510 151564511 151564511 upstr_intron -14 -0.288888888888889 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCGCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 83 67 1 1 1 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0106524499058029 0.000160431183931276 0.998691887128184 0.994593559455133 NA 0.00540644054486711 NA FALSE NA 0 0.057 . intron_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/2 1 NA CCC C,G 8.236e-06 1:151564511 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 intron_variant 2.132655 0.18056 0.03297 0.062308 0.807926630017715 0.307237 0.0180800994157088 FALSE 4.09015e-06 ENSE00000959602_007 ENSE00000959602 007 1 151536956 151537125 + 45 90 35 C T 151536988 3483 33 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGAGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564511 151564512 151564512 upstr_intron -13 -0.266666666666667 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCTCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 667 88 1 0.8 0.9 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0106524499058029 -0.199839568816069 0.998691887128184 0.994593559455133 NA -0.0945935594551329 NA FALSE NA 0 0.554 . intron_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/2 1 NA CCC C,T 8.236e-06 1:151564512 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 intron_variant 2.459283 0.35672 0.12429 0.062308 0.851108334200886 0.400249 0.0180800994157088 FALSE 4.0865e-06 ENSE00000959602_008 ENSE00000959602 008 1 151536956 151537125 + 45 90 35 C T 151536991 3484 36 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGAAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564514 151564515 151564515 upstr_intron -10 -0.2 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTTCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 982 874 0.997200812011919 0.995815072593961 0.99650794230294 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.00785326191772151 -0.00402449622210732 0.998691887128184 0.994593559455133 NA 0.00191438284780709 NA FALSE NA 0.083 0.701 . intron_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 2/2 1 NA TCC C,T 8.236e-06 1:151564515 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 intron_variant 2.74175 0.47864 0.08527 0.062308 0.848315050014061 0.410773 0.0180800994157088 FALSE 4.0788e-06 ENSE00000959602_010 ENSE00000959602 010 1 151536956 151537125 + 45 90 35 T C 151537010 3486 55 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCGGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564533 151564534 151564534 exon 10 0.111111111111111 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACCGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 380 253 0.998144244294803 0.998634604054126 0.998389424174465 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.00879669420060625 -0.00120496476194287 0.998691887128184 0.994593559455133 NA 0.00379586471933169 NA FALSE NA 0.998 4.026 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 3/3 rs368796950 1 NA C:0 C:0.0001 CTG T,C 8.236e-06 1:151564534 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 missense_variant 5.725345 0.97171 0.96348 0.732398 0.996951022616026 0 0.0180800994157088 FALSE 8.13087e-06 ENSE00000959602_012 ENSE00000959602 012 1 151536956 151537125 + 45 90 35 A G 151537017 3488 62 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCCGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564540 151564541 151564541 exon 17 0.188888888888889 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACGGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 421 191 1 1 1 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0106524499058029 0.000160431183931276 0.998691887128184 0.994593559455133 NA 0.00540644054486711 NA FALSE NA 1 4.702 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 3/3 rs376806067 1 NA G:0.0002 G:0 CAG A,G 8.236e-06 1:151564541 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 missense_variant 4.354988 0.9726 0.97315 0.732398 0.998454732338638 0 0.0180800994157088 FALSE 3.25195e-05 ENSE00000959602_014 ENSE00000959602 014 1 151536956 151537125 + 45 90 35 G A 151537026 3490 71 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCTGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564549 151564550 151564550 exon 26 0.288888888888889 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCAGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 1108 212 0.998614065448304 0.997755359646087 0.998184712547196 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.00926651535410727 -0.00208420916998187 0.998691887128184 0.994593559455133 NA 0.0035911530920627 NA FALSE NA 1 3.503 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 3/3 1 NA CGG G,A 8.236e-06 1:151564550 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 missense_variant 5.27253 0.96335 0.89297 0.732398 0.998930213401992 0 0.0180800994157088 FALSE 1.21957e-05 ENSE00000959602_015 ENSE00000959602 015 1 151536956 151537125 + 45 90 35 G A 151537027 3491 72 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCTCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564550 151564551 151564551 exon 27 0.3 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGAGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 256 244 0.996905014200886 0.996655883555647 0.996780448878266 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.00755746410668856 -0.00318368526042179 0.998691887128184 0.994593559455133 NA 0.00218688942313339 NA FALSE NA 1 0.841 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 3/3 1 NA GGG G,A 8.236e-06 1:151564551 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 synonymous_variant 1.341026 0.94433 0.66989 0.732398 0.790802274850066 0 0.0180800994157088 FALSE 8.12889e-06 ENSE00000959602_016 ENSE00000959602 016 1 151536956 151537125 + 45 90 35 A T 151537034 3492 79 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTAAATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564557 151564558 151564558 exon 34 0.377777777777778 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATTTAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 119 133 0.984113823200311 1 0.992056911600156 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA -0.00523372689388601 0.000160431183931276 0.998691887128184 0.994593559455133 NA -0.00253664785497737 NA FALSE NA 1 3.15 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 3/3 COSM528923 1 NA TAT A,T 8.236e-06 1:151564558 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 missense_variant 2.830149 0.97262 0.8948 0.732398 0.990793545444093 0 0.0180800994157088 FALSE 4.06395e-06 ENSE00000959602_017 ENSE00000959602 017 1 151536956 151537125 + 45 90 35 G A 151537041 3493 86 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGTTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564564 151564565 151564565 exon 41 0.455555555555556 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAACAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 211 314 1 0.998991320786228 0.999495660393114 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0106524499058029 -0.000848248029840293 0.998691887128184 0.994593559455133 NA 0.00490210093798132 NA FALSE NA 1 1.603 rs140180310 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 3/3 rs140180310 1 NA A:0.0002 A:0 AGC G,A 8.236e-06 1:151564565 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 missense_variant 4.026765 0.96272 0.77548 0.732398 0.995666155284639 0 0.0180800994157088 FALSE NA ENSE00000959602_019 ENSE00000959602 019 1 151536956 151537125 + 45 90 35 A G 151537063 3495 108 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCCCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564586 151564587 151564587 exon -28 0.7 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGGGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 1744 111 0.966657521708958 0.962257519059298 0.964457520384128 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA -0.0226900283852387 -0.0375820497567707 0.998691887128184 0.994593559455133 NA -0.0301360390710047 NA FALSE NA 0.997 0.649 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:151564587 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 synonymous_variant 0.244874 0.16155 0.2832 0.732398 0.5503167050897 0 0.0180800994157088 FALSE 4.87781e-05 ENSE00000959602_020 ENSE00000959602 020 1 151536956 151537125 + 45 90 35 A T 151537063 3496 108 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTCGATGGAGAGAATCACCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564586 151564587 151564587 exon -28 0.7 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGTGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 207 138 0.997182978182093 0.993692818944781 0.995437898563437 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0078354280878955 -0.00614674987128749 0.998691887128184 0.994593559455133 NA 0.000844339108304004 NA FALSE NA 0.997 0.649 NA NA NA TUFT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUFT1 NA NA NA ENSG00000143367 ENSE00003524221 synonymous_variant -0.450065 0.16073 0.29741 0.732398 0.713318105940841 0 0.0180800994157088 FALSE 4.06484e-06 ENSE00000959602_023 ENSE00000959602 023 1 151536956 151537125 + 45 90 35 G A 151537077 3499 122 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCCTGTTGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564600 151564601 151564601 exon -14 0.855555555555556 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCAACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 569 594 1 0.994361450208172 0.997180725104086 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.0106524499058029 -0.00547811860789715 0.998691887128184 0.994593559455133 NA 0.00258716564895289 NA FALSE NA 0 -0.403 rs151156528 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 3/3 rs151156528&COSM1334010 1 NA A:0.0007 A:0 CGA G,A 8.236e-05 1:151564601 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 missense_variant 0.742933 0.08198 0.00649 0.732398 0.802253353124741 0 0.0180800994157088 FALSE 6.50496e-05 ENSE00000959602_024 ENSE00000959602 024 1 151536956 151537125 + 45 90 35 G A 151537081 3500 126 CGGTGGGGACCCAACCATGGACCATTTCCTATTACCTGTATCTCTTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCCTGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 151564604 151564605 151564605 exon -10 0.9 TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAAGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG mutant NA NA NA NA NA 244 504 0.993659012224504 0.995302256081192 0.994480634152848 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA 0.00431146213030664 -0.00453731273487645 0.998691887128184 0.994593559455133 NA -0.000112925302284905 NA FALSE NA 1 1.639 rs139203796 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUFT1 HGNC 12422 ENST00000461859 3/3 rs139203796 1 A:0.0010 A:0.0038 A:0 NA A:0 A:0 A:0 A:0.0018 A:0 AGG G,A 0.0002059 1:151564605 TUFT1 HGNC Symbol protein_coding 43278 ENSG00000143367 ENSE00003524221 synonymous_variant 0.526004 0.96079 0.80936 0.732398 0.735151063581964 0 0.0180800994157088 FALSE 0.000126041 ENSE00000959602_BRK ENSE00000959602 BRK 1 151536956 151537125 + 45 90 35 A,G; T,T NA NA NA CGGTGGGGACCCAACCATGGACCATTTCCTATTGGCTGTATCTCCTGTCGATGGAGAGAATCTCCTAGGTTCCTGTCAAGCTTGCTACTTATATCCTCCCGGAGCTTCTGTAGGCAGTTCCTGGCAAGGGAGGGGAGGGGAAGAAACTTGAGCTTTAGGGTAGAGAAAGA 151564479 151564649 NA NA NA NA NA NA TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCTTGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGCCAATAGGAAATGGTCCATGGTTGGGTCCCCACCG TCTTTCTCTACCCTAAAGCTCAAGTTTCTTCCCCTCCCCTCCCAGGCCAGGAACTGCCTACAGAAGCTCCGGGAGGATATAAGTAGCAAGCTTGACAGGAACCTAGGAGATTCTCTCCATCGACAGGAGATACAGGTAATAGGAAATGGTCCATGGTTGGGTCCCCACCG control NA NA NA NA NA 244 543 0 0 0 0.999379087773174 0.998004686483194 0.989347550094197 0.999839568816069 NA NA -0.989347550094197 -0.999839568816069 0.998691887128184 0.994593559455133 NA -0.994593559455133 NA TRUE NA NA NA NA NA NA TUFT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUFT1 NA NA NA ENSG00000143367 ENSE00003524221 NA NA NA NA NA NA NA 0.0180800994157088 FALSE NA ENSE00000959672_000 ENSE00000959672 000 1 151493030 151493199 + 42 96 32 NA NA NA NA NA TCATGCCTCCGGCACCTCTAACCTTTCCTTACCTTCACCTCTTCATCCAGCTTTCGCTGTAGCTCCTCCACTTTTCGGGTAAGCTCACCCTGCCCTGCCACGGCCTTAGTAGAACCAGAAGAAACCATCTGCCAGAGATATGGGGGGTGTGGGGGAAGGGAGTGAGTCCA 151520553 151520723 NA NA NA NA NA NA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA natural 379 620 0.85 0.839278344182251 0.844639172091126 30 110 0.892558483393006 0.933469703321352 0.913014093357179 0.85 0.839278344182251 0.892558483393006 0.933469703321352 0 0 0 0 0.844639172091126 0.913014093357179 0 0 0 FALSE FALSE NA NA NA NA NA CGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CGN NA NA NA ENSG00000143375 ENSE00000959672 NA NA NA NA NA NA NA 1.82319246593754e-22 FALSE NA ENSE00000959672_001 ENSE00000959672 001 1 151493030 151493199 + 42 96 32 C G 151493040 3396 11 TCATGCCTCCGGCACCTCTAACCTTTCCTTACCTTCACCTCTTCATCCAGCTTTCGCTGTAGCTCCTCCACTTTTCGGGTAAGCTCACCCTGCCCTGCCACGGCCTTAGTAGAACCAGAAGAAACCATCTGCCAGAGATATGGGGGGTGTGGGGGAAGGCAGTGAGTCCA 151520553 151520723 151520563 151520564 151520564 upstr_intron -32 -0.738095238095238 TGGACTCACTGCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA mutant NA NA NA NA NA 41 125 0.8 0.8 0.8 0.85 0.839278344182251 0.892558483393006 0.933469703321352 NA NA -0.0925584833930055 -0.133469703321352 0.844639172091126 0.913014093357179 NA -0.113014093357179 NA FALSE NA 0 -1.102 . intron_variant MODIFIER CGN HGNC 17429 ENST00000271636 4/20 1 NA TCC C,G 8.236e-06 1:151520564 CGN HGNC Symbol protein_coding 28182 ENSG00000143375 ENSE00000959672 intron_variant 0.121352 0.35252 0.17827 0.093477 0.465710902026226 0.0864398 1.82319246593754e-22 FALSE 4.06726e-06 ENSE00000959672_006 ENSE00000959672 006 1 151493030 151493199 + 42 96 32 C G 151493055 3401 26 TCATGCCTCCGGCACCTCTAACCTTTCCTTACCTTCACCTCTTCATCCAGCTTTCGCTGTAGCTCCTCCACTTTTCGGGTAAGCTCACCCTGCCCTGCCACGGCCTTAGTAGAACCAGAAGAAACCATCTGCCAGAGATATGGGCGGTGTGGGGGAAGGGAGTGAGTCCA 151520553 151520723 151520578 151520579 151520579 upstr_intron -17 -0.380952380952381 TGGACTCACTCCCTTCCCCCACACCGCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA mutant 48 11 0 0 0 NA NA NA NA NA 0.85 0.839278344182251 0.892558483393006 0.933469703321352 -0.85 -0.839278344182251 NA NA 0.844639172091126 0.913014093357179 -0.844639172091126 NA NA NA TRUE 0 -2.084 . intron_variant MODIFIER CGN HGNC 17429 ENST00000271636 4/20 1 NA CCC C,G 8.236e-06 1:151520579 CGN HGNC Symbol protein_coding 28182 ENSG00000143375 ENSE00000959672 intron_variant 0.148099 0.38842 0.1259 0.099367 0.373948787518827 0.0762395 1.82319246593754e-22 FALSE 4.06398e-06 ENSE00000959672_013 ENSE00000959672 013 1 151493030 151493199 + 42 96 32 G C 151493096 3408 67 TCATGCCTCCGGCACCTCTAACCTTTCCTTACCTTCACCTCTTCATCCAGCTTTCGCTGTAGCTCCTCCACTTTTCGGGTAAGCTCACCCTGCCCTGCCACGGGCTTAGTAGAACCAGAAGAAACCATCTGCCAGAGATATGGGGGGTGTGGGGGAAGGGAGTGAGTCCA 151520553 151520723 151520619 151520620 151520620 exon 25 0.260416666666667 TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGCCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA mutant NA NA NA NA NA 20 22 0.967120444041388 1 0.983560222020694 0.85 0.839278344182251 0.892558483393006 0.933469703321352 NA NA 0.0745619606483819 0.0665302966786484 0.844639172091126 0.913014093357179 NA 0.0705461286635152 NA FALSE NA 0.162 -0.03 NA NA NA CGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:151520620 CGN HGNC Symbol protein_coding 28182 ENSG00000143375 ENSE00000959672 missense_variant 0.777016 0.36551 0.20875 0.706548 0.945384236715153 0 1.82319246593754e-22 FALSE 1.21864e-05 ENSE00000959672_015 ENSE00000959672 015 1 151493030 151493199 + 42 96 32 C T 151493098 3410 69 TCATGCCTCCGGCACCTCTAACCTTTCCTTACCTTCACCTCTTCATCCAGCTTTCGCTGTAGCTCCTCCACTTTTCGGGTAAGCTCACCCTGCCCTGCCACAGCCTTAGTAGAACCAGAAGAAACCATCTGCCAGAGATATGGGGGGTGTGGGGGAAGGGAGTGAGTCCA 151520553 151520723 151520621 151520622 151520622 exon 27 0.28125 TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCTGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA mutant NA NA NA NA NA 37 23 0.8 0.8 0.8 0.85 0.839278344182251 0.892558483393006 0.933469703321352 NA NA -0.0925584833930055 -0.133469703321352 0.844639172091126 0.913014093357179 NA -0.113014093357179 NA FALSE NA 0.001 0.384 rs141884525 synonymous_variant LOW CGN HGNC 17429 ENST00000271636 5/21 rs141884525 1 T:0.0056 T:0.0106 T:0 NA T:0.0129 T:0 T:0.001 T:0.007 T:0 CCG C,T 0.001194 1:151520622 CGN HGNC Symbol protein_coding 28182 ENSG00000143375 ENSE00000959672 splice_region_variant 1.328061 0.36436 0.14565 0.706548 0.555222563059112 0 1.82319246593754e-22 FALSE 0.00118219 ENSE00000959672_026 ENSE00000959672 026 1 151493030 151493199 + 42 96 32 A C 151493157 3421 128 TCATGCCTCCGGCACCTCTAACCTTTCCTTACCTTCACCTCTGCATCCAGCTTTCGCTGTAGCTCCTCCACTTTTCGGGTAAGCTCACCCTGCCCTGCCACGGCCTTAGTAGAACCAGAAGAAACCATCTGCCAGAGATATGGGGGGTGTGGGGGAAGGGAGTGAGTCCA 151520553 151520723 151520680 151520681 151520681 exon -11 0.895833333333333 TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGCAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA mutant NA NA NA NA NA 348 19 0.736666250815122 0.8 0.768333125407561 0.85 0.839278344182251 0.892558483393006 0.933469703321352 NA NA -0.155892232577884 -0.133469703321352 0.844639172091126 0.913014093357179 NA -0.144680967949618 NA FALSE NA 1 4.019 . missense_variant MODERATE CGN HGNC 17429 ENST00000271636 5/21 1 tolerated(0.08) benign(0.379) NA GAA A,C 1.647e-05 1:151520681 CGN HGNC Symbol protein_coding 28182 ENSG00000143375 ENSE00000959672 missense_variant 3.303606 0.96301 0.88801 0.706548 0.995776924158801 0 1.82319246593754e-22 FALSE 4.09433e-06 ENSE00000959672_027 ENSE00000959672 027 1 151493030 151493199 + 42 96 32 G A 151493162 3422 133 TCATGCCTCCGGCACCTCTAACCTTTCCTTACCTTCATCTCTTCATCCAGCTTTCGCTGTAGCTCCTCCACTTTTCGGGTAAGCTCACCCTGCCCTGCCACGGCCTTAGTAGAACCAGAAGAAACCATCTGCCAGAGATATGGGGGGTGTGGGGGAAGGGAGTGAGTCCA 151520553 151520723 151520685 151520686 151520686 exon -6 0.947916666666667 TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGATGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA mutant NA NA NA NA NA 25 33 0.976431898549944 0.973031139106411 0.974731518828177 0.85 0.839278344182251 0.892558483393006 0.933469703321352 NA NA 0.0838734151569381 0.0395614357850591 0.844639172091126 0.913014093357179 NA 0.0617174254709986 NA FALSE NA 0.967 0.939 . missense_variant MODERATE CGN HGNC 17429 ENST00000271636 5/21 rs201806613 1 tolerated(0.37) benign(0.042) A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 GGT G,A 0.00014 1:151520686 CGN HGNC Symbol protein_coding 28182 ENSG00000143375 ENSE00000959672 missense_variant 2.551121 0.93873 0.582 0.706548 0.963176282446344 0 1.82319246593754e-22 FALSE 0.000135663 ENSE00000959672_028 ENSE00000959672 028 1 151493030 151493199 + 42 96 32 G A 151493164 3423 135 TCATGCCTCCGGCACCTCTAACCTTTCCTTACCTTTACCTCTTCATCCAGCTTTCGCTGTAGCTCCTCCACTTTTCGGGTAAGCTCACCCTGCCCTGCCACGGCCTTAGTAGAACCAGAAGAAACCATCTGCCAGAGATATGGGGGGTGTGGGGGAAGGGAGTGAGTCCA 151520553 151520723 151520687 151520688 151520688 exon -4 0.96875 TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTAAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA TGGACTCACTCCCTTCCCCCACACCCCCCATATCTCTGGCAGATGGTTTCTTCTGGTTCTACTAAGGCCGTGGCAGGGCAGGGTGAGCTTACCCGAAAAGTGGAGGAGCTACAGCGAAAGCTGGATGAAGAGGTGAAGGTAAGGAAAGGTTAGAGGTGCCGGAGGCATGA mutant NA NA NA NA NA 71 54 0.824983938967466 0.881916286383958 0.853450112675712 0.85 0.839278344182251 0.892558483393006 0.933469703321352 NA NA -0.0675745444255395 -0.051553416937394 0.844639172091126 0.913014093357179 NA -0.0595639806814667 NA FALSE NA 0.952 0.339 . synonymous_variant LOW CGN HGNC 17429 ENST00000271636 5/21 rs373552166 1 NA TGA G,A 8.237e-06 1:151520688 CGN HGNC Symbol protein_coding 28182 ENSG00000143375 ENSE00000959672 synonymous_variant 1.344702 0.92863 0.67435 0.706548 0.728520602189325 0 1.82319246593754e-22 FALSE 8.24763e-06 ENSE00000961221_000 ENSE00000961221 000 1 153741313 153741482 + 56 69 45 NA NA NA NA NA TGGGATAAAAGCTGAGGAGCCCATCCAGGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGATGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA 153768836 153769006 NA NA NA NA NA NA TGGGATAAAAGCTGAGGAGCCCATCCAGGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGATGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA TGGGATAAAAGCTGAGGAGCCCATCCAGGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGATGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA natural 190 257 0.85 0.878316830573366 0.864158415286683 1654 2263 0.688138140953643 0.792561591545083 0.740349866249363 0.85 0.878316830573366 0.688138140953643 0.792561591545083 0 0 0 0 0.864158415286683 0.740349866249363 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA INTS3 NA NA NA ENSG00000143624 ENSE00003475506 NA NA NA NA NA NA NA 0.999997023490929 TRUE NA ENSE00000961221_002 ENSE00000961221 002 1 153741313 153741482 + 56 69 45 G A 153741340 3573 28 TGGGATAAAAGCTGAGGAGCCCATCCAAGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGATGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA 153768836 153769006 153768863 153768864 153768864 upstr_intron -29 -0.5 TGGGATAAAAGCTGAGGAGCCCATCCAAGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGATGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA TGGGATAAAAGCTGAGGAGCCCATCCAGGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGATGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA mutant NA NA NA NA NA 22 55 1 1 1 0.85 0.878316830573366 0.688138140953643 0.792561591545083 NA NA 0.311861859046357 0.207438408454917 0.864158415286683 0.740349866249363 NA 0.259650133750637 NA FALSE NA 0 0.513 NA NA NA INTS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:153768864 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003475506 intron_variant 0.292001 0.29614 0.16155 0.295142 0.560725632626009 0.0721469 0.999997023490929 TRUE 8.12691e-06 ENSE00000961221_004 ENSE00000961221 004 1 153741313 153741482 + 56 69 45 T C 153741377 3575 65 TGGGATAAAAGCTGAGGAGCCCATCCAGGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGACGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA 153768836 153769006 153768900 153768901 153768901 exon 9 0.130434782608696 TGGGATAAAAGCTGAGGAGCCCATCCAGGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGACGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA TGGGATAAAAGCTGAGGAGCCCATCCAGGACTCTTCCCCTCTCTTTTTCCATTTAGTTTCCAGATGAAACCTTGAGGAGCGGAGAGCTGCTGAACATGATCGTGGCTGTTATTGACTCTGCACAGGTGAACATTGAGCTCTGACCTCCCCAGAAGATCTGGGAGGCAGCA mutant 37 18 0.85 0.85 0.85 38 59 0.95 0.969965618744841 0.959982809372421 0.85 0.878316830573366 0.688138140953643 0.792561591545083 0 -0.0283168305733663 0.261861859046357 0.177404027199758 0.864158415286683 0.740349866249363 -0.0141584152866832 0.219632943123057 0.233791358409741 FALSE FALSE 0.995 0.276 . synonymous_variant LOW INTS3 HGNC 26153 ENST00000435409 23/31 rs372522734 1 NA C:0 C:0.0001 ATG T,C 8.236e-06 1:153768901 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003475506 synonymous_variant 0.399141 0.95513 0.81289 0.732398 0.868502612755333 0 0.999997023490929 TRUE 4.06098e-06 ENSE00000961384_000 ENSE00000961384 000 1 230923218 230923387 + 50 81 39 NA NA NA NA NA GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 NA NA NA NA NA NA GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG natural NA NA NA NA NA 1139 352 0.907989558227801 0.952082990044024 0.930036274135912 NA NA 0.907989558227801 0.952082990044024 NA NA 0 0 NA 0.930036274135912 NA 0 NA FALSE NA NA NA NA NA NA CAPN9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAPN9 NA NA NA ENSG00000135773 ENSE00000961384 NA NA NA NA NA NA NA 1.73327533297539e-11 FALSE NA ENSE00000962336_000 ENSE00000962336 000 1 204218273 204218442 - 39 81 50 NA NA NA NA NA CCTTCATCCCCTTCTTTCTCCCTCTCCTTCTCCACTCTCTGGGTCCCTAGAAGCTGCTGGGAAAATTGTGTGAGCAGAACAAGGTGGTGAGGGAGCAGGACCGGCTGGTGCAGCAGCTCCGAGCTGAGAAGGTGAGAAGCTGGGGGTGGCTTTAAGCTGGGGCAGATGGG 204249144 204249314 NA NA NA NA NA NA CCTTCATCCCCTTCTTTCTCCCTCTCCTTCTCCACTCTCTGGGTCCCTAGAAGCTGCTGGGAAAATTGTGTGAGCAGAACAAGGTGGTGAGGGAGCAGGACCGGCTGGTGCAGCAGCTCCGAGCTGAGAAGGTGAGAAGCTGGGGGTGGCTTTAAGCTGGGGCAGATGGG CCTTCATCCCCTTCTTTCTCCCTCTCCTTCTCCACTCTCTGGGTCCCTAGAAGCTGCTGGGAAAATTGTGTGAGCAGAACAAGGTGGTGAGGGAGCAGGACCGGCTGGTGCAGCAGCTCCGAGCTGAGAAGGTGAGAAGCTGGGGGTGGCTTTAAGCTGGGGCAGATGGG natural 626 514 0.603206243606529 0.769673952398671 0.6864400980026 383 1111 0.868906542417087 0.96626616944751 0.917586355932299 0.603206243606529 0.769673952398671 0.868906542417087 0.96626616944751 0 0 0 0 0.6864400980026 0.917586355932299 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHA6 NA NA NA ENSG00000143850 ENSE00000962336 NA NA NA NA NA NA NA 0.981969069730327 TRUE NA ENSE00000962336_002 ENSE00000962336 002 1 204218273 204218442 - 39 81 50 C T 204218340 4759 103 CCTTCATCCCCTTCTTTCTCCCTCTCCTTCTCCACTCTCTGGGTCCCTAGAAGCTGCTGGGAAAATTGTGTGAGCAGAACAAGGTGGTGAGGGAGCAGGACCAGCTGGTGCAGCAGCTCCGAGCTGAGAAGGTGAGAAGCTGGGGGTGGCTTTAAGCTGGGGCAGATGGG 204249144 204249314 204249211 204249212 204249212 exon -29 0.654320987654321 CCTTCATCCCCTTCTTTCTCCCTCTCCTTCTCCACTCTCTGGGTCCCTAGAAGCTGCTGGGAAAATTGTGTGAGCAGAACAAGGTGGTGAGGGAGCAGGACCAGCTGGTGCAGCAGCTCCGAGCTGAGAAGGTGAGAAGCTGGGGGTGGCTTTAAGCTGGGGCAGATGGG CCTTCATCCCCTTCTTTCTCCCTCTCCTTCTCCACTCTCTGGGTCCCTAGAAGCTGCTGGGAAAATTGTGTGAGCAGAACAAGGTGGTGAGGGAGCAGGACCGGCTGGTGCAGCAGCTCCGAGCTGAGAAGGTGAGAAGCTGGGGGTGGCTTTAAGCTGGGGCAGATGGG mutant 116 58 0.85 0.85 0.85 NA NA NA NA NA 0.603206243606529 0.769673952398671 0.868906542417087 0.96626616944751 0.246793756393471 0.0803260476013294 NA NA 0.6864400980026 0.917586355932299 0.1635599019974 NA NA NA FALSE 1 3.059 . missense_variant MODERATE PLEKHA6 HGNC 17053 ENST00000414478 11/23 rs545905230 1 tolerated(0.1) benign(0.006) T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 CCG C,T 0.001005 1:204249212 PLEKHA6 HGNC Symbol protein_coding 158814 ENSG00000143850 ENSE00000962336 missense_variant 2.906159 0.97889 0.89771 0.615465 0.991200941344216 0 0.981969069730327 TRUE 0.00089771 ENSE00000963279_000 ENSE00000963279 000 2 96963337 96963506 - 38 84 48 NA NA NA NA NA ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 NA NA NA NA NA NA ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG natural 39 42 0.926124157340415 0.879738638088906 0.902931397714661 4459 6954 0.902754826990104 0.705951683453925 0.804353255222015 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 0 0 0 0 0.902931397714661 0.804353255222015 0 0 0 FALSE FALSE NA NA NA NA NA SNRNP200 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNRNP200 NA NA NA ENSG00000144028 ENSE00000963279 NA NA NA NA NA NA NA 0.999999999999148 TRUE NA ENSE00000963279_001 ENSE00000963279 001 2 96963337 96963506 - 38 84 48 T C 96963348 2135 159 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCGGGCCTTGATGG 96297598 96297768 96297609 96297610 96297610 downstr_intron 27 1.72972972972973 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCGGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 913 967 0.999457842146597 0.935303333752752 0.967380587949674 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0967030151564932 0.229351650298826 0.902931397714661 0.804353255222015 NA 0.16302733272766 NA FALSE NA 0 -1.401 . intron_variant MODIFIER SNRNP200 HGNC 30859 ENST00000323853 10/44 rs184518484 1 NA CTG T,C 1.647e-05 2:96297610 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 intron_variant -0.204432 0.21668 0.04651 0.359288 0.446619155854514 0.123739 0.999999999999148 TRUE 2.43647e-05 ENSE00000963279_002 ENSE00000963279 002 2 96963337 96963506 - 38 84 48 A G 96963352 2136 155 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTCCCCAGGCCTTGATGG 96297598 96297768 96297613 96297614 96297614 downstr_intron 23 1.62162162162162 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTCCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 133 272 1 0.992751236732335 0.996375618366168 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0972451730098959 0.28679955327841 0.902931397714661 0.804353255222015 NA 0.192022363144153 NA FALSE NA 0.003 0.026 . intron_variant MODIFIER SNRNP200 HGNC 30859 ENST00000323853 10/44 1 NA GAA A,G 3.295e-05 2:96297614 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 intron_variant -0.322522 0.20184 0.18255 0.359288 0.296336694318197 0.123739 0.999999999999148 TRUE 1.62431e-05 ENSE00000963279_003 ENSE00000963279 003 2 96963337 96963506 - 38 84 48 T C 96963355 2137 152 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTGTTTCCCAGGCCTTGATGG 96297598 96297768 96297616 96297617 96297617 downstr_intron 20 1.54054054054054 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTGTTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 1393 320 0.999644944105143 1 0.999822472052572 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0968901171150393 0.294048316546075 0.902931397714661 0.804353255222015 NA 0.195469216830557 NA FALSE NA 0 -3.264 . intron_variant MODIFIER SNRNP200 HGNC 30859 ENST00000323853 10/44 1 NA ATA T,C 8.236e-06 2:96297617 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 intron_variant -0.405178 0.19297 0.07681 0.359288 0.384528650730011 0.123739 0.999999999999148 TRUE 4.06078e-06 ENSE00000963279_004 ENSE00000963279 004 2 96963337 96963506 - 38 84 48 C T 96963363 2138 144 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGAGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297624 96297625 96297625 downstr_intron 12 1.32432432432432 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGAGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 528 179 0.993900151885479 1 0.99695007594274 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0911453248953752 0.294048316546075 0.902931397714661 0.804353255222015 NA 0.192596820720725 NA FALSE NA 0 0.093 . intron_variant MODIFIER SNRNP200 HGNC 30859 ENST00000323853 10/44 rs369732597 1 NA T:0.0002 T:0 CCC C,T 8.236e-06 2:96297625 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 intron_variant -0.151301 0.31001 0.15977 0.359288 0.643449598562767 0.123739 0.999999999999148 TRUE 4.06075e-06 ENSE00000963279_006 ENSE00000963279 006 2 96963337 96963506 - 38 84 48 T C 96963385 2140 122 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCGGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297646 96297647 96297647 exon -11 0.880952380952381 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCGGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 1123 460 0.996898102846374 0.992589511302729 0.994743807074552 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0941432758562704 0.286637827848803 0.902931397714661 0.804353255222015 NA 0.190390551852537 NA FALSE NA 1 7.449 . missense_variant MODERATE SNRNP200 HGNC 30859 ENST00000323853 10/45 1 tolerated(0.37) benign(0.021) NA CTG T,C 3.295e-05 2:96297647 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 missense_variant 2.100487 0.99178 0.99177 0.719381 0.983064550422895 0 0.999999999999148 TRUE 2.84243e-05 ENSE00000963279_008 ENSE00000963279 008 2 96963337 96963506 - 38 84 48 A G 96963393 2142 114 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGACCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297654 96297655 96297655 exon -19 0.785714285714286 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGACCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 482 1222 1 0.999870557558751 0.999935278779375 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0972451730098959 0.293918874104826 0.902931397714661 0.804353255222015 NA 0.195582023557361 NA FALSE NA 0.994 0.559 . synonymous_variant LOW SNRNP200 HGNC 30859 ENST00000323853 10/45 1 NA GAT A,G 8.236e-06 2:96297655 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 synonymous_variant 0.076758 0.9684 0.7892 0.719381 0.601057660106339 0 0.999999999999148 TRUE 4.06072e-06 ENSE00000963279_009 ENSE00000963279 009 2 96963337 96963506 - 38 84 48 A C 96963408 2143 99 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGAGCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297669 96297670 96297670 exon -34 0.607142857142857 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGAGCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 1395 301 0.999586257794697 0.998323533955231 0.998954895874964 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0968314308045928 0.292371850501306 0.902931397714661 0.804353255222015 NA 0.194601640652949 NA FALSE NA 0.979 0.214 . missense_variant MODERATE SNRNP200 HGNC 30859 ENST00000323853 10/45 rs551330734 1 tolerated(0.19) benign(0.005) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GAT A,C 8.236e-06 2:96297670 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 missense_variant 0.975321 0.96726 0.91733 0.719381 0.990240067024055 0 0.999999999999148 TRUE 4.06065e-06 ENSE00000963279_010 ENSE00000963279 010 2 96963337 96963506 - 38 84 48 C T 96963410 2144 97 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAAATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297671 96297672 96297672 exon -36 0.583333333333333 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAAATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 597 1419 0.996179146416784 0.999515784623637 0.997847465520211 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0934243194266796 0.293564101169712 0.902931397714661 0.804353255222015 NA 0.193494210298196 NA FALSE NA 1 7.245 . missense_variant MODERATE SNRNP200 HGNC 30859 ENST00000323853 10/45 1 deleterious(0.05) benign(0.007) NA TCT C,T 8.236e-06 2:96297672 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 missense_variant 3.865882 0.99393 0.99263 0.719381 0.998519724072636 0 0.999999999999148 TRUE 4.06065e-06 ENSE00000963279_011 ENSE00000963279 011 2 96963337 96963506 - 38 84 48 A G 96963418 2145 89 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAACGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297679 96297680 96297680 exon 41 0.488095238095238 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAACGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 1441 319 0.89018110830305 0.985557286499742 0.937869197401396 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA -0.0125737186870541 0.279605603045816 0.902931397714661 0.804353255222015 NA 0.133515942179381 NA FALSE NA 1 8.666 . missense_variant MODERATE SNRNP200 HGNC 30859 ENST00000323853 10/45 1 tolerated(0.56) benign(0.012) NA CAT A,G 1.647e-05 2:96297680 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 missense_variant 1.692178 0.99224 0.99531 0.719381 0.859118898141301 0 0.999999999999148 TRUE 8.12123e-06 ENSE00000963279_012 ENSE00000963279 012 2 96963337 96963506 - 38 84 48 T C 96963419 2146 88 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAGTGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297680 96297681 96297681 exon 40 0.476190476190476 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAGTGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 1154 2378 0.998781158758859 0.970845017548177 0.984813088153518 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0960263317687546 0.264893334094252 0.902931397714661 0.804353255222015 NA 0.180459832931503 NA FALSE NA 1 5.389 rs142729495 missense_variant MODERATE SNRNP200 HGNC 30859 ENST00000323853 10/45 rs142729495&COSM220940 1 tolerated(0.45) benign(0) C:0.0016 C:0 C:0.0014 NA C:0 C:0.005 C:0.002 C:0.002 C:0.0072 ATT T,C 0.002685 2:96297681 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 missense_variant 0.875548 0.97895 0.91619 0.719381 0.956251726950782 0 0.999999999999148 TRUE 0.0028506 ENSE00000963279_013 ENSE00000963279 013 2 96963337 96963506 - 38 84 48 T G 96963427 2147 80 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCCGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297688 96297689 96297689 exon 32 0.380952380952381 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCCGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 295 644 1 0.973055100281297 0.986527550140649 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0972451730098959 0.267103416827372 0.902931397714661 0.804353255222015 NA 0.182174294918634 NA FALSE NA 1 7.449 . missense_variant MODERATE SNRNP200 HGNC 30859 ENST00000323853 10/45 rs373841671 1 tolerated(0.2) benign(0.078) NA G:0 G:0.0001 CTG T,G 8.236e-06 2:96297689 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 missense_variant 2.638531 0.9922 0.99325 0.719381 0.980877004426272 0 0.999999999999148 TRUE 8.1213e-06 ENSE00000963279_014 ENSE00000963279 014 2 96963337 96963506 - 38 84 48 C T 96963430 2148 77 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCATCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297691 96297692 96297692 exon 29 0.345238095238095 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCATCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 988 621 0.998575119146437 0.994154491328199 0.996364805237318 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0958202921563334 0.288202807874274 0.902931397714661 0.804353255222015 NA 0.192011550015303 NA FALSE NA 1 7.245 . missense_variant MODERATE SNRNP200 HGNC 30859 ENST00000323853 10/45 rs536493402 1 deleterious(0.03) benign(0.049) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 4.118e-05 2:96297692 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 missense_variant 5.742631 0.99387 0.99261 0.719381 0.99894499071757 0 0.999999999999148 TRUE 2.43645e-05 ENSE00000963279_015 ENSE00000963279 015 2 96963337 96963506 - 38 84 48 G A 96963431 2149 76 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGTGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297692 96297693 96297693 exon 28 0.333333333333333 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGTGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 456 1241 0.995434708251109 0.99495236473792 0.995193536494514 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0926798812610046 0.289000681283994 0.902931397714661 0.804353255222015 NA 0.1908402812725 NA FALSE NA 1 5.51 rs142216052 missense_variant MODERATE SNRNP200 HGNC 30859 ENST00000323853 10/45 rs142216052&COSM4096373&COSM4096374 1 deleterious(0.02) possibly_damaging(0.886) NA A:0.0002 A:0.0001 CGC G,A 4.118e-05 2:96297693 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 missense_variant 7.32375 0.98768 0.97272 0.719381 0.999274946942156 0 0.999999999999148 TRUE 1.62429e-05 ENSE00000963279_019 ENSE00000963279 019 2 96963337 96963506 - 38 84 48 G A 96963466 2153 41 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCTACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297727 96297728 96297728 upstr_intron -8 -0.145833333333333 ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCTACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 583 545 0.962168624272809 0.991151964841737 0.976660294557273 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0594137972827046 0.285200281387812 0.902931397714661 0.804353255222015 NA 0.172307039335258 NA FALSE NA 0 -0.543 . splice_region_variant&intron_variant LOW SNRNP200 HGNC 30859 ENST00000323853 9/44 1 NA TGG G,A 8.236e-06 2:96297728 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 splice_region_variant -0.180518 0.21061 0.04425 0.099367 0.413632663504547 0.118941 0.999999999999148 TRUE 7.30947e-05 ENSE00000963279_021 ENSE00000963279 021 2 96963337 96963506 - 38 84 48 A T 96963474 2155 33 ATGATACTGATGAATTGTTTTTGTGATTTTTAACTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297735 96297736 96297736 upstr_intron -16 -0.3125 ATGATACTGATGAATTGTTTTTGTGATTTTTAACTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 1030 823 0.925211422564911 0.999761464012592 0.962486443288751 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0224565955748064 0.293809780558666 0.902931397714661 0.804353255222015 NA 0.158133188066736 NA FALSE NA 0 0.313 . intron_variant MODIFIER SNRNP200 HGNC 30859 ENST00000323853 9/44 1 NA GAT A,T 8.236e-06 2:96297736 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 intron_variant -0.256346 0.22111 0.0537 0.099367 0.321438299041613 0.118941 0.999999999999148 TRUE 8.1217e-06 ENSE00000963279_022 ENSE00000963279 022 2 96963337 96963506 - 38 84 48 A G 96963489 2156 18 ATGATACTGATGAATTGCTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297750 96297751 96297751 upstr_intron -31 -0.625 ATGATACTGATGAATTGCTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 840 1285 1 0.998461282207192 0.999230641103596 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0972451730098959 0.292509598753266 0.902931397714661 0.804353255222015 NA 0.194877385881581 NA FALSE NA 0 0.77 . intron_variant MODIFIER SNRNP200 HGNC 30859 ENST00000323853 9/44 rs565652148 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAC A,G 9.06e-05 2:96297751 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 intron_variant 0.06231 0.19477 0.08181 0.099367 0.264332839611892 0.04925 0.999999999999148 TRUE 6.09424e-05 ENSE00000963279_023 ENSE00000963279 023 2 96963337 96963506 - 38 84 48 A C 96963491 2157 16 ATGATACTGATGAATGGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297752 96297753 96297753 upstr_intron -33 -0.666666666666667 ATGATACTGATGAATGGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 859 2554 0.994419215144938 0.996405230097474 0.995412222621206 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA 0.0916643881548341 0.290453546643549 0.902931397714661 0.804353255222015 NA 0.191058967399191 NA FALSE NA 0 -2.293 . intron_variant MODIFIER SNRNP200 HGNC 30859 ENST00000323853 9/44 1 NA CAA A,C 8.236e-06 2:96297753 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 intron_variant -0.831866 0.06533 0.02406 0.099367 0.34115521611601 0.04925 0.999999999999148 TRUE 4.06326e-06 ENSE00000963279_024 ENSE00000963279 024 2 96963337 96963506 - 38 84 48 C A 96963495 2158 12 ATGATACTGATTAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG 96297598 96297768 96297756 96297757 96297757 upstr_intron -37 -0.75 ATGATACTGATTAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG ATGATACTGATGAATTGTTTTTGTGATTTTTATCTTTGTCCACTACAGGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCTCGAATGGACACAGATCTGGAAACCATGGATCTCGACCAGGGTGGAGAGGTAGGATCCAGGGCGATTTATTTCCCAGGCCTTGATGG mutant NA NA NA NA NA 624 841 0.86232142992094 0.997474436496981 0.92989793320896 0.926124157340415 0.879738638088906 0.902754826990104 0.705951683453925 NA NA -0.0404333970691642 0.291522753043055 0.902931397714661 0.804353255222015 NA 0.125544677986945 NA FALSE NA 0 -0.954 . intron_variant MODIFIER SNRNP200 HGNC 30859 ENST00000323853 9/44 1 NA TCA C,A 3.295e-05 2:96297757 SNRNP200 HGNC Symbol protein_coding 31179 ENSG00000144028 ENSE00000963279 intron_variant 0.377804 0.1762 0.07488 0.099367 0.661445703860243 0.04925 0.999999999999148 TRUE 2.44012e-05 ENSE00000963940_000 ENSE00000963940 000 2 135076176 135076345 + 45 90 35 NA NA NA NA NA GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 NA NA NA NA NA NA GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT natural 210 146 0.985643204925265 0.994487498308775 0.99006535161702 5456 5252 0.924119972670079 0.944626271249054 0.934373121959567 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 0 0 0 0 0.99006535161702 0.934373121959567 0 0 0 FALSE FALSE NA NA NA NA NA MGAT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5 NA NA NA ENSG00000152127 ENSE00000963940 NA NA NA NA NA NA NA 0.999925016569622 TRUE NA ENSE00000963940_001 ENSE00000963940 001 2 135076176 135076345 + 45 90 35 C T 135076198 2727 23 GAGGGCCTGTGAATGGGCTGCTTAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318626 134318627 134318627 upstr_intron -23 -0.488888888888889 GAGGGCCTGTGAATGGGCTGCTTAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 154 1325 1 0.993750546018293 0.996875273009147 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0491242747692391 0.99006535161702 0.934373121959567 NA 0.0625021510495799 NA FALSE NA 0 -1.099 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 3/15 1 NA TCA C,T 8.236e-06 2:134318627 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 intron_variant 0.437177 0.25227 0.04953 0.256867 0.740963767880567 0.112686 0.999925016569622 TRUE 4.0777e-06 ENSE00000963940_002 ENSE00000963940 002 2 135076176 135076345 + 45 90 35 G A 135076200 2728 25 GAGGGCCTGTGAATGGGCTGCTCAAAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318628 134318629 134318629 upstr_intron -21 -0.444444444444444 GAGGGCCTGTGAATGGGCTGCTCAAAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 200 150 1 1 1 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0656268780404333 NA FALSE NA 0 -0.196 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 3/15 1 NA AGA G,A 8.236e-06 2:134318629 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 intron_variant 0.515631 0.27319 0.03829 0.256867 0.774062015976228 0.112686 0.999925016569622 TRUE 4.07554e-06 ENSE00000963940_003 ENSE00000963940 003 2 135076176 135076345 + 45 90 35 A G 135076203 2729 28 GAGGGCCTGTGAATGGGCTGCTCAGAGGTGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318631 134318632 134318632 upstr_intron -18 -0.377777777777778 GAGGGCCTGTGAATGGGCTGCTCAGAGGTGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 666 826 1 0.994861039590894 0.997430519795447 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0502347683418397 0.99006535161702 0.934373121959567 NA 0.0630573978358802 NA FALSE NA 0 -0.51 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 3/15 1 NA GAT A,G 8.236e-06 2:134318632 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 intron_variant 0.572865 0.26651 0.02784 0.295142 0.721319203780769 0.112686 0.999925016569622 TRUE 4.07448e-06 ENSE00000963940_004 ENSE00000963940 004 2 135076176 135076345 + 45 90 35 C T 135076208 2730 33 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTTTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318636 134318637 134318637 upstr_intron -13 -0.266666666666667 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTTTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 178 155 0.926252811249021 1 0.963126405624511 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.00213283857894209 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.028753283664944 NA FALSE NA 0 -0.072 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 3/15 rs374407586 1 NA T:0 T:0.0001 TCT C,T 2.471e-05 2:134318637 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 intron_variant 0.503103 0.26149 0.06988 0.295142 0.755369926561149 0.179458 0.999925016569622 TRUE 5.70228e-05 ENSE00000963940_005 ENSE00000963940 005 2 135076176 135076345 + 45 90 35 G A 135076214 2731 39 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTATTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318642 134318643 134318643 upstr_intron -7 -0.133333333333333 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTATTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 539 295 0.989715183245476 0.999870889866985 0.994793036556231 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0655952105753966 0.0552446186179312 0.99006535161702 0.934373121959567 NA 0.0604199145966639 NA FALSE NA 0.002 -0.949 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:134318643 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 splice_region_variant 1.353208 0.42025 0.14585 0.295142 0.682902102629139 0.351441 0.999925016569622 TRUE 4.07169e-05 ENSE00000963940_006 ENSE00000963940 006 2 135076176 135076345 + 45 90 35 G C 135076214 2732 39 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTCTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318642 134318643 134318643 upstr_intron -7 -0.133333333333333 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTCTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 1445 753 0.998768888374551 0.997165035294028 0.99796696183429 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.074648915704472 0.0525387640449739 0.99006535161702 0.934373121959567 NA 0.0635938398747229 NA FALSE NA 0.002 -0.949 NA NA NA MGAT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5 NA NA NA ENSG00000152127 ENSE00000963940 splice_region_variant 1.066352 0.42019 0.11602 0.295142 0.737513803672852 0.351441 0.999925016569622 TRUE 2.03585e-05 ENSE00000963940_007 ENSE00000963940 007 2 135076176 135076345 + 45 90 35 C T 135076232 2733 57 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGATATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318660 134318661 134318661 exon 12 0.133333333333333 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGATATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 79 281 1 1 1 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0656268780404333 NA FALSE NA 0.996 0.297 . synonymous_variant LOW MGAT5 HGNC 7049 ENST00000281923 4/16 1 NA ACA C,T 8.236e-06 2:134318661 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 synonymous_variant 1.577897 0.92328 0.45246 0.706548 0.821032882304982 0 0.999925016569622 TRUE 4.06928e-06 ENSE00000963940_008 ENSE00000963940 008 2 135076176 135076345 + 45 90 35 G A 135076240 2734 65 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCATTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318668 134318669 134318669 exon 20 0.222222222222222 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCATTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 792 1647 0.997084865637073 0.922905374470634 0.959995120053854 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0729648929669936 -0.0217208967784199 0.99006535161702 0.934373121959567 NA 0.0256219980942868 NA FALSE NA 1 9.445 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:134318669 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 missense_variant 4.556378 0.99426 0.99035 0.706548 0.997279335416316 0 0.999925016569622 TRUE 2.03422e-05 ENSE00000963940_009 ENSE00000963940 009 2 135076176 135076345 + 45 90 35 G T 135076240 2735 65 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCTTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318668 134318669 134318669 exon 20 0.222222222222222 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCTTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 407 20 1 1 1 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0656268780404333 NA FALSE NA 1 9.445 NA NA NA MGAT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5 NA NA NA ENSG00000152127 ENSE00000963940 missense_variant 4.438657 0.99443 0.99162 0.706548 0.995758228866821 0 0.999925016569622 TRUE 4.06845e-06 ENSE00000963940_010 ENSE00000963940 010 2 135076176 135076345 + 45 90 35 C T 135076243 2736 68 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTTAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318671 134318672 134318672 exon 23 0.255555555555556 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTTAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 77 498 0.964944398250664 1 0.982472199125332 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0408244255805846 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0480990771657652 NA FALSE NA 1 7.462 . missense_variant MODERATE MGAT5 HGNC 7049 ENST00000281923 4/16 rs376687191 1 deleterious(0) benign(0.246) NA T:0 T:0.0001 TCA C,T 4.942e-05 2:134318672 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 missense_variant 5.318183 0.99201 0.98139 0.706548 0.998329873236187 0 0.999925016569622 TRUE 3.66122e-05 ENSE00000963940_011 ENSE00000963940 011 2 135076176 135076345 + 45 90 35 A G 135076244 2737 69 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCGGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318672 134318673 134318673 exon 24 0.266666666666667 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCGGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 117 254 1 1 1 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0656268780404333 NA FALSE NA 0 -2.387 . synonymous_variant LOW MGAT5 HGNC 7049 ENST00000281923 4/16 1 NA CAG A,G 8.236e-06 2:134318673 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 synonymous_variant 0.638162 0.2653 0.02263 0.706548 0.601762828408591 0 0.999925016569622 TRUE 4.06772e-06 ENSE00000963940_013 ENSE00000963940 013 2 135076176 135076345 + 45 90 35 G A 135076257 2739 82 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACACAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318685 134318686 134318686 exon 37 0.411111111111111 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACACAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 113 522 0.964610260071563 0.998731665813678 0.981670962942621 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0404902874014842 0.0541053945646235 0.99006535161702 0.934373121959567 NA 0.0472978409830538 NA FALSE NA 1 3.576 . missense_variant MODERATE MGAT5 HGNC 7049 ENST00000281923 4/16 1 deleterious(0.03) benign(0.041) NA CGC G,A 3.295e-05 2:134318686 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 missense_variant 4.997085 0.98581 0.94509 0.706548 0.997700369727554 0 0.999925016569622 TRUE 3.25415e-05 ENSE00000963940_014 ENSE00000963940 014 2 135076176 135076345 + 45 90 35 C T 135076262 2740 87 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGATTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318690 134318691 134318691 exon 42 0.466666666666667 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGATTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 708 52 0.999941859410897 1 0.999970929705449 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758218867408178 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0655978077458818 NA FALSE NA 0.25 -0.377 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:134318691 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 synonymous_variant 1.537889 0.96502 0.28277 0.706548 0.785745902672151 0 0.999925016569622 TRUE 4.06702e-06 ENSE00000963940_015 ENSE00000963940 015 2 135076176 135076345 + 45 90 35 C G 135076262 2741 87 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGAGTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318690 134318691 134318691 exon 42 0.466666666666667 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGAGTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 144 725 0.99503798280273 0.816680839729349 0.90585941126604 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0709180101326508 -0.127945431519705 0.99006535161702 0.934373121959567 NA -0.0285137106935272 NA FALSE NA 0.25 -0.377 NA NA NA MGAT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5 NA NA NA ENSG00000152127 ENSE00000963940 missense_variant 1.580611 0.96766 0.42169 0.706548 0.791812250289551 0 0.999925016569622 TRUE 4.06702e-06 ENSE00000963940_016 ENSE00000963940 016 2 135076176 135076345 + 45 90 35 T A 135076274 2742 99 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGAAGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318702 134318703 134318703 exon -37 0.6 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGAAGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 1089 326 0.999203694186103 1 0.999601847093052 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.075083721516024 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0652287251334849 NA FALSE NA 0.989 0.201 . missense_variant MODERATE MGAT5 HGNC 7049 ENST00000281923 4/16 1 deleterious(0) benign(0.304) NA ATG T,A 8.236e-06 2:134318703 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 missense_variant 4.074256 0.97312 0.87913 0.706548 0.991958204237248 0 0.999925016569622 TRUE 4.06683e-06 ENSE00000963940_017 ENSE00000963940 017 2 135076176 135076345 + 45 90 35 C T 135076286 2743 111 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGTTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318714 134318715 134318715 exon -25 0.733333333333333 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGTTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 279 121 1 1 1 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0656268780404333 NA FALSE NA 1 3.782 . synonymous_variant LOW MGAT5 HGNC 7049 ENST00000281923 4/16 1 NA GCT C,T 8.236e-06 2:134318715 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 synonymous_variant 1.650851 0.98326 0.95492 0.706548 0.798710445334277 0 0.999925016569622 TRUE 1.22013e-05 ENSE00000963940_018 ENSE00000963940 018 2 135076176 135076345 + 45 90 35 T C 135076289 2744 114 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCCTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318717 134318718 134318718 exon -22 0.766666666666667 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCCTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 1325 448 0.893606540159389 0.997847612529915 0.945727076344652 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA -0.0305134325106905 0.0532213412808613 0.99006535161702 0.934373121959567 NA 0.0113539543850854 NA FALSE NA 0.99 0.255 . synonymous_variant LOW MGAT5 HGNC 7049 ENST00000281923 4/16 1 NA CTT T,C 2.471e-05 2:134318718 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 synonymous_variant -0.172994 0.96236 0.51955 0.706548 0.677431455433648 0 0.999925016569622 TRUE 2.44115e-05 ENSE00000963940_019 ENSE00000963940 019 2 135076176 135076345 + 45 90 35 T C 135076307 2745 132 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGCGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318735 134318736 134318736 exon -4 0.966666666666667 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGCGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 556 485 1 0.999921494017368 0.999960747008684 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0552952227683133 0.99006535161702 0.934373121959567 NA 0.065587625049117 NA FALSE NA 1 3.762 . synonymous_variant LOW MGAT5 HGNC 7049 ENST00000281923 4/16 COSM3894789 1 NA GTG T,C 8.236e-06 2:134318736 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 synonymous_variant 0.631487 0.98537 0.88494 0.706548 0.850439178603713 0 0.999925016569622 TRUE 4.06921e-06 ENSE00000963940_020 ENSE00000963940 020 2 135076176 135076345 + 45 90 35 A G 135076309 2746 134 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGGGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318737 134318738 134318738 exon -2 0.988888888888889 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGGGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 283 781 0.967336008283251 0.996607238086259 0.981971623184755 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0432160356131718 0.0519809668372044 0.99006535161702 0.934373121959567 NA 0.0475985012251881 NA FALSE NA 1 8.933 . missense_variant&splice_region_variant MODERATE MGAT5 HGNC 7049 ENST00000281923 4/16 1 deleterious(0) benign(0.246) NA GAG A,G 5.765e-05 2:134318738 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 missense_variant 5.043485 0.99454 0.9925 0.706548 0.998687239671273 0 0.999925016569622 TRUE 2.84882e-05 ENSE00000963940_021 ENSE00000963940 021 2 135076176 135076345 + 45 90 35 T A 135076316 2747 141 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGAAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 134318744 134318745 134318745 downstr_intron 6 1.17647058823529 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGAAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 63 325 1 1 1 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0758800273299207 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0656268780404333 NA FALSE NA 0.997 2.852 . splice_region_variant&intron_variant LOW MGAT5 HGNC 7049 ENST00000281923 4/15 rs528872137 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GTA T,A 8.236e-06 2:134318745 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 splice_region_variant 1.634789 0.76664 0.71905 0.062308 0.847512783056372 0.482404 0.999925016569622 TRUE NA ENSE00000963940_022 ENSE00000963940 022 2 135076176 135076345 + 45 90 35 T C 135076333 2748 158 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCCGGGGGTAGATGT 134318604 134318774 134318761 134318762 134318762 downstr_intron 23 1.67647058823529 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCCGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 425 965 0.99970914320428 0.999638401704711 0.999673772454496 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0755891705342009 0.0550121304556571 0.99006535161702 0.934373121959567 NA 0.065300650494929 NA FALSE NA 0 -0.567 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 4/15 1 NA CTG T,C 8.237e-06 2:134318762 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 intron_variant 0.413394 0.14692 0.02986 0.062308 0.707608761833791 0.153832 0.999925016569622 TRUE 4.08814e-06 ENSE00000963940_023 ENSE00000963940 023 2 135076176 135076345 + 45 90 35 G C 135076334 2749 159 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTCGGGGTAGATGT 134318604 134318774 134318762 134318763 134318763 downstr_intron 24 1.70588235294118 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTCGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 1105 302 0.994430204651267 1 0.997215102325633 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0703102319811876 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0628419803660667 NA FALSE NA 0 0.166 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:134318763 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 intron_variant -0.011302 0.19677 0.14086 0.062308 0.747417302881043 0.153832 0.999925016569622 TRUE 0.00392609 ENSE00000963940_024 ENSE00000963940 024 2 135076176 135076345 + 45 90 35 G A 135076334 2750 159 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTAGGGGTAGATGT 134318604 134318774 134318762 134318763 134318763 downstr_intron 24 1.70588235294118 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTAGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 271 375 0.99723406818346 0.998463048960043 0.997848558571752 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0731140955133812 0.053836777710989 0.99006535161702 0.934373121959567 NA 0.0634754366121851 NA FALSE NA 0 0.166 NA NA NA MGAT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5 NA NA NA ENSG00000152127 ENSE00000963940 intron_variant 0.278544 0.17532 0.03855 0.062308 0.695390567376617 0.153832 0.999925016569622 TRUE 8.17936e-06 ENSE00000963940_025 ENSE00000963940 025 2 135076176 135076345 + 45 90 35 G C 135076335 2751 160 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGCGGGTAGATGT 134318604 134318774 134318763 134318764 134318764 downstr_intron 25 1.73529411764706 GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGCGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT mutant NA NA NA NA NA 201 657 0.996742514938101 1 0.998371257469051 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 NA NA 0.0726225422680218 0.0553737287509458 0.99006535161702 0.934373121959567 NA 0.0639981355094838 NA FALSE NA 0.005 0.225 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 4/15 1 NA GGG G,C 8.237e-06 2:134318764 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00000963940 intron_variant 0.046535 0.2323 0.07864 0.062308 0.726540569548371 0.153832 0.999925016569622 TRUE 8.17922e-06 ENSE00000963940_BRK ENSE00000963940 BRK 2 135076176 135076345 + 45 90 35 A,G; T,T NA NA NA GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCTTTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGCCGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT 134318604 134318774 NA NA NA NA NA NA GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCTTTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGCCGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT GAGGGCCTGTGAATGGGCTGCTCAGAGATGTTCTTCTTGTTTCAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGATCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTGAGTAGCTTTCTGTGGCTCCTGGGGGTAGATGT control 168 58 0 0.129067391183898 0.0645336955919488 2267 731 0.00704356775456133 0.0204979368330561 0.0137707522938087 0.985643204925265 0.994487498308775 0.924119972670079 0.944626271249054 -0.985643204925265 -0.865420107124878 -0.917076404915518 -0.924128334415998 0.99006535161702 0.934373121959567 -0.925531656025071 -0.920602369665758 0.00492928635931356 TRUE TRUE NA NA NA NA NA MGAT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5 NA NA NA ENSG00000152127 ENSE00000963940 NA NA NA NA NA NA NA 0.999925016569622 TRUE NA ENSE00000964036_000 ENSE00000964036 000 2 98453501 98453670 - 39 81 50 NA NA NA NA NA CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT 97837037 97837207 NA NA NA NA NA NA CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT natural NA NA NA NA NA 1207 1978 0.976593109845161 0.908073765638172 0.942333437741667 NA NA 0.976593109845161 0.908073765638172 NA NA 0 0 NA 0.942333437741667 NA 0 NA FALSE NA NA NA NA NA NA TMEM131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM131 NA NA NA ENSG00000075568 ENSE00000964036 NA NA NA NA NA NA NA 0.999999482162299 TRUE NA ENSE00000964036_001 ENSE00000964036 001 2 98453501 98453670 - 39 81 50 G A 98453517 2218 154 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTTTTGTGTGTGCTCCCAT 97837037 97837207 97837053 97837054 97837054 downstr_intron 23 1.60526315789474 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTTTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT mutant NA NA NA NA NA 17 90 1 1 1 NA NA 0.976593109845161 0.908073765638172 NA NA 0.0234068901548392 0.0919262343618276 NA 0.942333437741667 NA 0.0576665622583334 NA FALSE NA 0.003 0.77 . intron_variant MODIFIER TMEM131 HGNC 30366 ENST00000425805 9/13 1 NA AGA G,A 8.278e-06 2:97837054 TMEM131 HGNC Symbol protein_coding 239558 ENSG00000075568 ENSE00000964036 intron_variant 0.522721 0.22694 0.10106 0.295142 0.724874570582379 0.0851235 0.999999482162299 TRUE 4.08557e-06 ENSE00000964036_002 ENSE00000964036 002 2 98453501 98453670 - 39 81 50 A G 98453520 2219 151 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTCCTCTTGTGTGTGCTCCCAT 97837037 97837207 97837056 97837057 97837057 downstr_intron 20 1.52631578947368 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTCCTCTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT mutant NA NA NA NA NA 34 332 0.971463220383948 1 0.985731610191974 NA NA 0.976593109845161 0.908073765638172 NA NA -0.00512988946121307 0.0919262343618276 NA 0.942333437741667 NA 0.0433981724503072 NA FALSE NA 0 -0.182 . intron_variant MODIFIER TMEM131 HGNC 30366 ENST00000425805 9/13 1 NA GAA A,G 8.278e-06 2:97837057 TMEM131 HGNC Symbol protein_coding 239558 ENSG00000075568 ENSE00000964036 intron_variant -0.060715 0.13386 0.0242 0.295142 0.481675643527074 0.0851235 0.999999482162299 TRUE 4.0832e-06 ENSE00000964036_009 ENSE00000964036 009 2 98453501 98453670 - 39 81 50 T G 98453586 2226 85 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCCCCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT 97837037 97837207 97837122 97837123 97837123 exon 35 0.432098765432099 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCCCCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT mutant NA NA NA NA NA 32 15 1 1 1 NA NA 0.976593109845161 0.908073765638172 NA NA 0.0234068901548392 0.0919262343618276 NA 0.942333437741667 NA 0.0576665622583334 NA FALSE NA 1 8.042 . missense_variant MODERATE TMEM131 HGNC 30366 ENST00000425805 9/14 1 probably_damaging(0.999) NA GTG T,G 8.277e-06 2:97837123 TMEM131 HGNC Symbol protein_coding 239558 ENSG00000075568 ENSE00000964036 missense_variant 5.801971 0.99521 0.99242 0.743674 0.988253999279079 0 0.999999482162299 TRUE 4.14607e-06 ENSE00000964036_011 ENSE00000964036 011 2 98453501 98453670 - 39 81 50 T C 98453611 2228 60 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAGTGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT 97837037 97837207 97837147 97837148 97837148 exon 10 0.123456790123457 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAGTGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT mutant NA NA NA NA NA 197 159 1 1 1 NA NA 0.976593109845161 0.908073765638172 NA NA 0.0234068901548392 0.0919262343618276 NA 0.942333437741667 NA 0.0576665622583334 NA FALSE NA 1 6.303 . missense_variant MODERATE TMEM131 HGNC 30366 ENST00000425805 9/14 COSM350682&COSM350681 1 benign(0.191) NA ATT T,C 8.276e-06 2:97837148 TMEM131 HGNC Symbol protein_coding 239558 ENSG00000075568 ENSE00000964036 missense_variant 3.369027 0.99503 0.98626 0.706298 0.87149055755474 0 0.999999482162299 TRUE 1.79485e-05 ENSE00000964036_012 ENSE00000964036 012 2 98453501 98453670 - 39 81 50 G C 98453625 2229 46 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCGCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT 97837037 97837207 97837161 97837162 97837162 upstr_intron -5 -0.08 CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCGCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT mutant NA NA NA NA NA 172 603 1 0.885462374527758 0.942731187263879 NA NA 0.976593109845161 0.908073765638172 NA NA 0.0234068901548392 -0.0226113911104144 NA 0.942333437741667 NA 0.000397749522212387 NA FALSE NA 0 0.127 . splice_region_variant&intron_variant LOW TMEM131 HGNC 30366 ENST00000425805 8/13 rs200243647 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 GGG G,C 4.966e-05 2:97837162 TMEM131 HGNC Symbol protein_coding 239558 ENSG00000075568 ENSE00000964036 splice_region_variant 0.782077 0.3098 0.23491 0.099367 0.594308096609607 0.280624 0.999999482162299 TRUE 5.60994e-05 ENSE00000964036_015 ENSE00000964036 015 2 98453501 98453670 - 39 81 50 T C 98453642 2232 29 CTTTGAGAATATGACTTTGAACGTAGCCGTCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT 97837037 97837207 97837178 97837179 97837179 upstr_intron -22 -0.42 CTTTGAGAATATGACTTTGAACGTAGCCGTCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT mutant NA NA NA NA NA 590 139 1 0.981618483797579 0.990809241898789 NA NA 0.976593109845161 0.908073765638172 NA NA 0.0234068901548392 0.0735447181594062 NA 0.942333437741667 NA 0.0484758041571227 NA FALSE NA 0 -0.575 . intron_variant MODIFIER TMEM131 HGNC 30366 ENST00000425805 8/13 1 NA ATG T,C 1.655e-05 2:97837179 TMEM131 HGNC Symbol protein_coding 239558 ENSG00000075568 ENSE00000964036 intron_variant 0.321707 0.16631 0.04781 0.062308 0.424866605335228 0.0448725 0.999999482162299 TRUE 2.89048e-05 ENSE00000964036_018 ENSE00000964036 018 2 98453501 98453670 - 39 81 50 A G 98453659 2235 12 CTTTGAGAATACGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT 97837037 97837207 97837195 97837196 97837196 upstr_intron -39 -0.76 CTTTGAGAATACGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT mutant NA NA NA NA NA 304 395 1 0.999903595754731 0.999951797877365 NA NA 0.976593109845161 0.908073765638172 NA NA 0.0234068901548392 0.0918298301165582 NA 0.942333437741667 NA 0.0576183601356987 NA FALSE NA 0.038 5.2 . intron_variant MODIFIER TMEM131 HGNC 30366 ENST00000425805 8/13 1 NA CAT A,G 8.277e-06 2:97837196 TMEM131 HGNC Symbol protein_coding 239558 ENSG00000075568 ENSE00000964036 intron_variant 1.159203 0.23506 0.56497 0.062308 0.697649442640254 0.0448725 0.999999482162299 TRUE 5.36821e-06 ENSE00000964036_BRK ENSE00000964036 BRK 2 98453501 98453670 - 39 81 50 A,G; T,T NA NA NA CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCTTGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGCCGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT 97837037 97837207 NA NA NA NA NA NA CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCTTGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGCCGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT CTTTGAGAATATGACTTTGAACGTAGCCATCATGTGCTCTTTTGCCCCAGGTTGTAGAAATGTACTCTAGTGGAGGAGACCTTCACCTAGAACTCCCAACGGGTCAACAAGGAGGTACCAGAAAACTGTGGGTGAGTTGTAACCTAGTTTTCTCTTGTGTGTGCTCCCAT control NA NA NA NA NA 246 99 0.0681517645218333 0 0.0340758822609166 NA NA 0.976593109845161 0.908073765638172 NA NA -0.908441345323328 -0.908073765638172 NA 0.942333437741667 NA -0.90825755548075 NA TRUE NA NA NA NA NA NA TMEM131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM131 NA NA NA ENSG00000075568 ENSE00000964036 NA NA NA NA NA NA NA 0.999999482162299 TRUE NA ENSE00000964068_000 ENSE00000964068 000 2 100368644 100368813 - 39 81 50 NA NA NA NA NA TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 NA NA NA NA NA NA TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC natural NA NA NA NA NA 667 3575 0.941947943002664 0.995989300162259 0.968968621582462 NA NA 0.941947943002664 0.995989300162259 NA NA 0 0 NA 0.968968621582462 NA 0 NA FALSE NA NA NA NA NA NA AFF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFF3 NA NA NA ENSG00000144218 ENSE00000964068 NA NA NA NA NA NA NA 0.998912591236449 TRUE NA ENSE00000964068_001 ENSE00000964068 001 2 100368644 100368813 - 39 81 50 T C 100368656 2262 158 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAGTATGTTTCACTC 99752181 99752351 99752193 99752194 99752194 downstr_intron 27 1.71052631578947 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAGTATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 858 522 0.999278305191417 0.983601950829761 0.991440128010589 NA NA 0.941947943002664 0.995989300162259 NA NA 0.0573303621887524 -0.0123873493324975 NA 0.968968621582462 NA 0.0224715064281275 NA FALSE NA 0 -1.025 . intron_variant MODIFIER AFF3 HGNC 6473 ENST00000409579 9/24 1 NA ATT T,C 1.647e-05 2:99752194 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 intron_variant 0.099093 0.10699 0.00676 0.080785 0.571586781928826 0.0698953 0.998912591236449 TRUE 1.22322e-05 ENSE00000964068_002 ENSE00000964068 002 2 100368644 100368813 - 39 81 50 T C 100368663 2263 151 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCGGGAGGAATATGTTTCACTC 99752181 99752351 99752200 99752201 99752201 downstr_intron 20 1.52631578947368 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCGGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 42 496 1 1 1 NA NA 0.941947943002664 0.995989300162259 NA NA 0.0580520569973356 0.00401069983774116 NA 0.968968621582462 NA 0.0310313784175384 NA FALSE NA 0 -0.187 . intron_variant MODIFIER AFF3 HGNC 6473 ENST00000409579 9/24 rs201681148 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTG T,C 8.236e-06 2:99752201 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 intron_variant -0.321394 0.13177 0.02458 0.080785 0.404913942977755 0.0698953 0.998912591236449 TRUE 4.06981e-06 ENSE00000964068_004 ENSE00000964068 004 2 100368644 100368813 - 39 81 50 G A 100368675 2265 139 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATTTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 99752212 99752213 99752213 downstr_intron 8 1.21052631578947 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATTTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 419 26 0.993723182182043 1 0.996861591091022 NA NA 0.941947943002664 0.995989300162259 NA NA 0.0517752391793791 0.00401069983774116 NA 0.968968621582462 NA 0.0278929695085601 NA FALSE NA 0 0.28 . splice_region_variant&intron_variant LOW AFF3 HGNC 6473 ENST00000409579 9/24 1 NA AGA G,A 1.647e-05 2:99752213 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 splice_region_variant 1.080851 0.16419 0.01745 0.080785 0.547988640657047 0.228185 0.998912591236449 TRUE 8.13544e-06 ENSE00000964068_006 ENSE00000964068 006 2 100368644 100368813 - 39 81 50 G A 100368691 2267 123 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTTCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 99752228 99752229 99752229 exon -9 0.901234567901235 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTTCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 1005 216 0.997934391621944 0.999469676027879 0.998702033824912 NA NA 0.941947943002664 0.995989300162259 NA NA 0.0559864486192798 0.00348037586562 NA 0.968968621582462 NA 0.0297334122424499 NA FALSE NA 1 2.705 . missense_variant MODERATE AFF3 HGNC 6473 ENST00000409579 9/25 1 benign(0.079) NA GGA G,A 8.236e-06 2:99752229 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 missense_variant 3.911248 0.97834 0.83385 0.553676 0.996434372566732 0 0.998912591236449 TRUE 4.06742e-06 ENSE00000964068_007 ENSE00000964068 007 2 100368644 100368813 - 39 81 50 A G 100368722 2268 92 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCCGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 99752259 99752260 99752260 exon -40 0.518518518518518 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCCGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 818 260 1 0.999853493674554 0.999926746837277 NA NA 0.941947943002664 0.995989300162259 NA NA 0.0580520569973356 0.00386419351229528 NA 0.968968621582462 NA 0.0309581252548154 NA FALSE NA 1 1.215 . synonymous_variant LOW AFF3 HGNC 6473 ENST00000409579 9/25 1 NA CAG A,G 8.236e-06 2:99752260 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 synonymous_variant 0.381455 0.96454 0.68516 0.623552 0.752022059211576 0 0.998912591236449 TRUE 8.13789e-06 ENSE00000964068_009 ENSE00000964068 009 2 100368644 100368813 - 39 81 50 G T 100368742 2270 72 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCAATTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 99752279 99752280 99752280 exon 22 0.271604938271605 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCAATTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 198 71 1 1 1 NA NA 0.941947943002664 0.995989300162259 NA NA 0.0580520569973356 0.00401069983774116 NA 0.968968621582462 NA 0.0310313784175384 NA FALSE NA 1 3.551 . missense_variant MODERATE AFF3 HGNC 6473 ENST00000409579 9/25 rs368200767 1 probably_damaging(0.998) NA T:0.0002 T:0 AGT G,T 8.236e-06 2:99752280 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 missense_variant 5.044302 0.98707 0.93022 0.623552 0.996411795780683 0 0.998912591236449 TRUE 8.14239e-06 ENSE00000964068_010 ENSE00000964068 010 2 100368644 100368813 - 39 81 50 G A 100368748 2271 66 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTTCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 99752285 99752286 99752286 exon 16 0.197530864197531 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTTCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 151 747 0.964232945507476 0.981395273920116 0.972814109713796 NA NA 0.941947943002664 0.995989300162259 NA NA 0.0222850025048115 -0.0145940262421432 NA 0.968968621582462 NA 0.00384548813133412 NA FALSE NA 1 3.597 . missense_variant MODERATE AFF3 HGNC 6473 ENST00000409579 9/25 rs200707600 1 possibly_damaging(0.459) NA GGA G,A 1.647e-05 2:99752286 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 missense_variant 4.414153 0.97799 0.83841 0.623552 0.997037716326345 0 0.998912591236449 TRUE 1.22168e-05 ENSE00000964068_013 ENSE00000964068 013 2 100368644 100368813 - 39 81 50 G A 100368756 2274 58 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGATCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 99752293 99752294 99752294 exon 8 0.0987654320987654 TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGATCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 40 681 0.992568061496167 0.999711692480595 0.996139876988381 NA NA 0.941947943002664 0.995989300162259 NA NA 0.0506201184935029 0.0037223923183366 NA 0.968968621582462 NA 0.0271712554059197 NA FALSE NA 1 6.303 . missense_variant MODERATE AFF3 HGNC 6473 ENST00000409579 9/25 1 possibly_damaging(0.839) NA GGT G,A 1.647e-05 2:99752294 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 missense_variant 6.172066 0.98673 0.95496 0.553676 0.998948399337738 0 0.998912591236449 TRUE 2.03701e-05 ENSE00000964068_017 ENSE00000964068 017 2 100368644 100368813 - 39 81 50 T G 100368790 2278 24 TTAAATACTGTCTGTATCACAATCTTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 99752327 99752328 99752328 upstr_intron -27 -0.52 TTAAATACTGTCTGTATCACAATCTTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC mutant NA NA NA NA NA 99 88 0.933509398997299 1 0.96675469949865 NA NA 0.941947943002664 0.995989300162259 NA NA -0.00843854400536492 0.00401069983774116 NA 0.968968621582462 NA -0.00221392208381188 NA FALSE NA 0.001 -0.123 . intron_variant MODIFIER AFF3 HGNC 6473 ENST00000409579 8/24 rs533779751 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 ATA T,G 1.647e-05 2:99752328 AFF3 HGNC Symbol protein_coding 597320 ENSG00000144218 ENSE00000964068 intron_variant 0.384142 0.23272 0.20762 0.053691 0.649556594454934 0.113898 0.998912591236449 TRUE 1.22711e-05 ENSE00000964068_BRK ENSE00000964068 BRK 2 100368644 100368813 - 39 81 50 A,G; T,T NA NA NA TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCTTGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGCCGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC 99752181 99752351 NA NA NA NA NA NA TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCTTGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGCCGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC TTAAATACTGTCTGTATCACAATATTGTTTGTTTTTATCCCGTCCTTCAGGAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCACCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAGGTGAGATCTTGCATCCCTCAGGAGGAATATGTTTCACTC control NA NA NA NA NA 270 744 0 0 0 NA NA 0.941947943002664 0.995989300162259 NA NA -0.941947943002664 -0.995989300162259 NA 0.968968621582462 NA -0.968968621582462 NA TRUE NA NA NA NA NA NA AFF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFF3 NA NA NA ENSG00000144218 ENSE00000964068 NA NA NA NA NA NA NA 0.998912591236449 TRUE NA ENSE00000965047_000 ENSE00000965047 000 2 201467945 201468114 + 45 90 35 NA NA NA NA NA TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 NA NA NA NA NA NA TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC natural 266 543 0.855939525125192 0.85 0.852969762562596 3447 2444 0.949060515866746 0.959030978331695 0.954045747099221 0.855939525125192 0.85 0.949060515866746 0.959030978331695 0 0 0 0 0.852969762562596 0.954045747099221 0 0 0 FALSE FALSE NA NA NA NA NA AOX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00000965047 NA NA NA NA NA NA NA 2.67936726161947e-22 FALSE NA ENSE00000965047_001 ENSE00000965047 001 2 201467945 201468114 + 45 90 35 C A 201467963 4050 19 TAGAATCAGCAATAAATTACTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603239 200603240 200603240 upstr_intron -27 -0.577777777777778 TAGAATCAGCAATAAATTACTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 1204 234 0.971142021893276 0.998831609950443 0.984986815921859 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA 0.0220815060265298 0.0398006316187477 0.852969762562596 0.954045747099221 NA 0.0309410688226388 NA FALSE NA 0.003 0.045 . intron_variant MODIFIER AOX1 HGNC 553 ENST00000454629 6/6 1 NA TCC C,A 8.237e-06 2:200603240 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 intron_variant 1.027893 0.14966 0.06887 0.053691 0.578567548125338 0.0526692 2.67936726161947e-22 FALSE 8.16387e-06 ENSE00000965047_002 ENSE00000965047 002 2 201467945 201468114 + 45 90 35 T C 201467965 4051 21 TAGAATCAGCAATAAATTCCCAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603241 200603242 200603242 upstr_intron -25 -0.533333333333333 TAGAATCAGCAATAAATTCCCAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 18 1838 0.95 0.97189013702483 0.960945068512415 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA 0.000939484133253843 0.0128591586931347 0.852969762562596 0.954045747099221 NA 0.00689932141319427 NA FALSE NA 0 -0.586 . intron_variant MODIFIER AOX1 HGNC 553 ENST00000454629 6/6 1 NA CTA T,C 1.647e-05 2:200603242 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 intron_variant 0.808366 0.1717 0.03135 0.053691 0.838673985863362 0.0526692 2.67936726161947e-22 FALSE 2.03968e-05 ENSE00000965047_003 ENSE00000965047 003 2 201467945 201468114 + 45 90 35 G A 201467967 4052 23 TAGAATCAGCAATAAATTCCTAATGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603243 200603244 200603244 upstr_intron -23 -0.488888888888889 TAGAATCAGCAATAAATTCCTAATGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 3965 118 0.997724604830607 0.998657351550941 0.998190978190774 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA 0.0486640889638611 0.0396263732192461 0.852969762562596 0.954045747099221 NA 0.0441452310915536 NA FALSE NA 0 -2.716 . intron_variant MODIFIER AOX1 HGNC 553 ENST00000454629 6/6 1 NA AGT G,A 8.237e-06 2:200603244 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 intron_variant 0.749071 0.11908 0.00616 0.053691 0.719265687577495 0.0912435 2.67936726161947e-22 FALSE 8.15947e-06 ENSE00000965047_004 ENSE00000965047 004 2 201467945 201468114 + 45 90 35 T C 201467971 4053 27 TAGAATCAGCAATAAATTCCTAGTGACTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603247 200603248 200603248 upstr_intron -19 -0.4 TAGAATCAGCAATAAATTCCTAGTGACTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 651 10 0.942128794193065 0.93447658859052 0.938302691391793 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA -0.00693172167368084 -0.0245543897411747 0.852969762562596 0.954045747099221 NA -0.0157430557074278 NA FALSE NA 0.029 0.409 . intron_variant MODIFIER AOX1 HGNC 553 ENST00000454629 6/6 1 NA ATT T,C 8.237e-06 2:200603248 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 intron_variant 0.401932 0.21285 0.04301 0.053691 0.777567204328843 0.0526692 2.67936726161947e-22 FALSE 4.07558e-06 ENSE00000965047_006 ENSE00000965047 006 2 201467945 201468114 + 45 90 35 A G 201468008 4055 64 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAGGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603284 200603285 200603285 exon 19 0.211111111111111 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAGGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 1074 131 0.944502047221444 0.977166985382197 0.96083451630182 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA -0.00455846864530196 0.0181360070505014 0.852969762562596 0.954045747099221 NA 0.00678876920259974 NA FALSE NA 0.998 1.525 . missense_variant MODERATE AOX1 HGNC 553 ENST00000454629 7/7 1 tolerated_low_confidence(0.46) benign(0.002) NA AAG A,G 8.237e-06 2:200603285 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 missense_variant 0.999876 0.96447 0.84257 0.615465 0.939007103698672 0 2.67936726161947e-22 FALSE 8.13332e-06 ENSE00000965047_007 ENSE00000965047 007 2 201467945 201468114 + 45 90 35 A T 201468017 4056 73 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAATATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603293 200603294 200603294 exon 28 0.311111111111111 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAATATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 410 29 0.953135056919488 0.95 0.951567528459744 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA 0.00407454105274152 -0.00903097833169508 0.852969762562596 0.954045747099221 NA -0.00247821863947678 NA FALSE NA 1 3.794 . missense_variant MODERATE AOX1 HGNC 553 ENST00000454629 7/7 1 deleterious_low_confidence(0) probably_damaging(0.971) NA AAA A,T 8.237e-06 2:200603294 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 missense_variant 5.310622 0.98159 0.95575 0.615465 0.986535670900234 0 2.67936726161947e-22 FALSE 4.066e-06 ENSE00000965047_008 ENSE00000965047 008 2 201467945 201468114 + 45 90 35 G A 201468021 4057 77 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGAGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603297 200603298 200603298 exon 32 0.355555555555556 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGAGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 27 103 1 1 1 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA 0.0509394841332539 0.0409690216683049 0.852969762562596 0.954045747099221 NA 0.0459542529007794 NA FALSE NA 1 2.305 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 rs542431016 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGG G,A 8.237e-06 2:200603298 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 missense_variant 2.534001 0.97013 0.87789 0.615465 0.977391016856268 0 2.67936726161947e-22 FALSE 8.13154e-06 ENSE00000965047_009 ENSE00000965047 009 2 201467945 201468114 + 45 90 35 G T 201468023 4058 79 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGTTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603299 200603300 200603300 exon 34 0.377777777777778 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGTTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 246 58 0.954854069914068 0.95 0.952427034957034 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA 0.00579355404732174 -0.00903097833169508 0.852969762562596 0.954045747099221 NA -0.00161871214218667 NA FALSE NA 0 -0.141 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 1 NA GGT G,T 9.884e-05 2:200603300 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 missense_variant 0.751693 0.14119 0.05497 0.615465 0.941223737447005 0 2.67936726161947e-22 FALSE 0.00013415 ENSE00000965047_013 ENSE00000965047 013 2 201467945 201468114 + 45 90 35 T A 201468062 4062 118 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAAATTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603338 200603339 200603339 exon -18 0.811111111111111 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAAATTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 19 28 0.945879748731328 0.95 0.947939874365664 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA -0.00318076713541837 -0.00903097833169508 0.852969762562596 0.954045747099221 NA -0.00610587273355673 NA FALSE NA 0 -0.676 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 1 NA ATT T,A 8.236e-06 2:200603339 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 missense_variant 0.995609 0.13232 0.04898 0.554377 0.865014082531647 0 2.67936726161947e-22 FALSE 4.06521e-06 ENSE00000965047_015 ENSE00000965047 015 2 201467945 201468114 + 45 90 35 G T 201468075 4064 131 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAATTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 200603351 200603352 200603352 exon -5 0.955555555555556 TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAATTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC mutant NA NA NA NA NA 263 100 0.999843418423038 0.996466050045898 0.998154734234468 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA 0.0507829025562916 0.0374350717142025 0.852969762562596 0.954045747099221 NA 0.044108987135247 NA FALSE NA 0.001 0.794 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 1 NA AGT G,T 8.237e-06 2:200603352 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965047 missense_variant 0.826918 0.2266 0.07041 0.554377 0.87056999951445 0 2.67936726161947e-22 FALSE 4.06573e-06 ENSE00000965047_BRK ENSE00000965047 BRK 2 201467945 201468114 + 45 90 35 A,G; T,T NA NA NA TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTTTACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGCCCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC 200603221 200603391 NA NA NA NA NA NA TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTTTACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGCCCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC TAGAATCAGCAATAAATTCCTAGTGATTTGTTTTTTGTCCACTAGACTTCGGGCTGCTGTCAAAGTAAAGAAAATGGGGTTTGCTGTTTGGATCAAGGAATCAATGGATTGCCAGAATTTGAGGAAGGAAGTAAGGTCAGTGAAATGTAAAGCTTTTATAAGGCTTTCTC control NA NA NA NA NA 1074 16 0 0.020760158013637 0.0103800790068185 0.855939525125192 0.85 0.949060515866746 0.959030978331695 NA NA -0.949060515866746 -0.938270820318058 0.852969762562596 0.954045747099221 NA -0.943665668092402 NA TRUE NA NA NA NA NA NA AOX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00000965047 NA NA NA NA NA NA NA 2.67936726161947e-22 FALSE NA ENSE00000965048_000 ENSE00000965048 000 2 201468690 201468859 + 50 81 39 NA NA NA NA NA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 NA NA NA NA NA NA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA natural 122 263 0.96834311776806 0.915771824787494 0.942057471277777 5231 6630 0.972864934223709 0.87762050937395 0.925242721798829 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 0 0 0 0 0.942057471277777 0.925242721798829 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00000965048 NA NA NA NA NA NA NA 2.67936726161947e-22 FALSE NA ENSE00000965048_002 ENSE00000965048 002 2 201468690 201468859 + 50 81 39 C G 201468705 4070 16 GATTTTAAAGTTGCTGGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200603981 200603982 200603982 upstr_intron -35 -0.68 GATTTTAAAGTTGCTGGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 181 180 0.992731386830566 0.9997882932286 0.996259840029583 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0198664526068573 0.12216778385465 0.942057471277777 0.925242721798829 NA 0.0710171182307534 NA FALSE NA 0.002 -0.097 NA NA NA AOX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:200603982 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 intron_variant 0.024644 0.13679 0.01061 0.065574 0.531270429045454 0.0556154 2.67936726161947e-22 FALSE 4.09296e-06 ENSE00000965048_003 ENSE00000965048 003 2 201468690 201468859 + 50 81 39 G A 201468706 4071 17 GATTTTAAAGTTGCTCAATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200603982 200603983 200603983 upstr_intron -34 -0.66 GATTTTAAAGTTGCTCAATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 554 477 0.996316366442464 0.994809910723441 0.995563138582953 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0234514322187556 0.117189401349491 0.942057471277777 0.925242721798829 NA 0.0703204167841231 NA FALSE NA 0 -0.216 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 rs531568101 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 8.238e-06 2:200603983 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 intron_variant -0.014981 0.17299 0.0119 0.065574 0.759556276740228 0.0556154 2.67936726161947e-22 FALSE 4.08801e-06 ENSE00000965048_004 ENSE00000965048 004 2 201468690 201468859 + 50 81 39 A T 201468712 4072 23 GATTTTAAAGTTGCTCGATAACTGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200603988 200603989 200603989 upstr_intron -28 -0.54 GATTTTAAAGTTGCTCGATAACTGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 73 209 0.995985689673246 0.999242535541353 0.9976141126073 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0231207554495378 0.121622026167403 0.942057471277777 0.925242721798829 NA 0.0723713908084703 NA FALSE NA 0 -0.601 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 1 NA CAG A,T 1.647e-05 2:200603989 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 intron_variant -0.561527 0.15261 0.03079 0.065574 0.519919852273131 0.055505 2.67936726161947e-22 FALSE 1.22271e-05 ENSE00000965048_005 ENSE00000965048 005 2 201468690 201468859 + 50 81 39 C G 201468732 4073 43 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTGTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604008 200604009 200604009 upstr_intron -8 -0.14 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTGTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 616 159 0.997502900118925 1 0.998751450059463 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0246379658952164 0.12237949062605 0.942057471277777 0.925242721798829 NA 0.073508728260633 NA FALSE NA 0 0.094 rs2293525 downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 rs2293525 1 G:0.2762 G:0.2534 G:0.2709 NA G:0.4435 G:0.174 G:0.2434 G:0.2526 G:0.1788 TCT C,G 0.218 2:200604009 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 splice_region_variant -0.096109 0.22516 0.04448 0.065574 0.475349366774492 0.0523206 2.67936726161947e-22 FALSE 0.219598 ENSE00000965048_006 ENSE00000965048 006 2 201468690 201468859 + 50 81 39 T C 201468745 4074 56 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGCCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604021 200604022 200604022 exon 6 0.0740740740740741 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGCCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 953 1018 0.964231990249887 0.984623986118274 0.97442798818408 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA -0.00863294397382153 0.107003476744324 0.942057471277777 0.925242721798829 NA 0.0491852663852511 NA FALSE NA 0 0.533 rs143374796 downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 rs143374796 1 NA C:0.0002 C:0 GTC T,C 3.295e-05 2:200604022 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 synonymous_variant -0.824445 0.23312 0.05886 0.57788 0.42132050398082 0 2.67936726161947e-22 FALSE 2.84592e-05 ENSE00000965048_007 ENSE00000965048 007 2 201468690 201468859 + 50 81 39 C T 201468746 4075 57 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTTCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604022 200604023 200604023 exon 7 0.0864197530864197 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTTCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 766 72 0.980851886677515 1 0.990425943338758 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.00798695245380676 0.12237949062605 0.942057471277777 0.925242721798829 NA 0.0651832215399282 NA FALSE NA 0 0.073 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 1 NA TCC C,T 1.647e-05 2:200604023 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 missense_variant -1.785751 0.1796 0.1433 0.57788 0.495359430078176 0 2.67936726161947e-22 FALSE 1.21972e-05 ENSE00000965048_009 ENSE00000965048 009 2 201468690 201468859 + 50 81 39 C T 201468757 4077 68 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTTGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604033 200604034 200604034 exon 18 0.222222222222222 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTTGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 381 41 0.995373176713087 0.988248005574331 0.991810591143709 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.022508242489378 0.110627496200381 0.942057471277777 0.925242721798829 NA 0.0665678693448795 NA FALSE NA 0.37 0.873 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 rs376178128 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TCG C,T 2.471e-05 2:200604034 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 synonymous_variant 1.215299 0.68259 0.28095 0.57788 0.494765111990034 0 2.67936726161947e-22 FALSE 2.03277e-05 ENSE00000965048_012 ENSE00000965048 012 2 201468690 201468859 + 50 81 39 A G 201468765 4080 76 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGGGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604041 200604042 200604042 exon 26 0.320987654320988 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGGGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 1350 1094 0.989607990320232 0.996760424151617 0.993184207235925 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0167430560965234 0.119139914777667 0.942057471277777 0.925242721798829 NA 0.0679414854370952 NA FALSE NA 1 5.338 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 1 NA GAG A,G 8.237e-06 2:200604042 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 missense_variant 0.977788 0.84273 0.81678 0.57788 0.9914840634976 0 2.67936726161947e-22 FALSE 1.21951e-05 ENSE00000965048_014 ENSE00000965048 014 2 201468690 201468859 + 50 81 39 C G 201468785 4082 96 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATGCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604061 200604062 200604062 exon -36 0.567901234567901 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATGCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 1919 1571 0.997193182962681 0.993808867944568 0.995501025453624 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0243282487389722 0.116188358570617 0.942057471277777 0.925242721798829 NA 0.0702583036547949 NA FALSE NA 1 4.22 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 rs529389023 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TCC C,G 2.471e-05 2:200604062 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 missense_variant 2.543338 0.94707 0.88736 0.57788 0.992872629941366 0 2.67936726161947e-22 FALSE 2.84539e-05 ENSE00000965048_015 ENSE00000965048 015 2 201468690 201468859 + 50 81 39 C T 201468786 4083 97 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCTAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604062 200604063 200604063 exon -35 0.580246913580247 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCTAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 327 138 1 0.99458213650943 0.997291068254715 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0271350657762914 0.116961627135479 0.942057471277777 0.925242721798829 NA 0.0720483464558854 NA FALSE NA 1 6.973 . downstream_gene_variant MODIFIER AOX1 HGNC 553 ENST00000454629 1 NA CCA C,T 8.237e-06 2:200604063 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 missense_variant 6.239683 0.96985 0.93447 0.614807 0.998625267624056 0 2.67936726161947e-22 FALSE 4.06484e-06 ENSE00000965048_018 ENSE00000965048 018 2 201468690 201468859 + 50 81 39 A G 201468833 4086 144 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAGTGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604109 200604110 200604110 downstr_intron 13 1.34210526315789 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAGTGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 178 1310 0.988614068858308 0.999970943824696 0.994292506341502 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0157491346345993 0.122350434450745 0.942057471277777 0.925242721798829 NA 0.0690497845426723 NA FALSE NA 0 -1.469 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:200604110 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00000965048 intron_variant -0.04089 0.21439 0.01834 0.126639 0.525412881903315 0.0740226 2.67936726161947e-22 FALSE 9.76435e-05 ENSE00000965048_019 ENSE00000965048 019 2 201468690 201468859 + 50 81 39 A C 201468833 4087 144 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCACTGTTGAGCTCATCCTAGAAGAATTCA 200603966 200604136 200604109 200604110 200604110 downstr_intron 13 1.34210526315789 GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCACTGTTGAGCTCATCCTAGAAGAATTCA GATTTTAAAGTTGCTCGATAACAGTAATTTCTGATATGTTCTCTTTTTAGACAAGTCCAAAACTCTTCGCAGAAGAGGAGTTTCTGCCATTGGATCCAACCCAGGAACTGATATTTCCTCCTGAGCTAATGGTGAGTAAAGCAATGTTGAGCTCATCCTAGAAGAATTCA mutant NA NA NA NA NA 1049 1551 1 0.999873459102763 0.999936729551381 0.96834311776806 0.915771824787494 0.972864934223709 0.87762050937395 NA NA 0.0271350657762914 0.122252949728813 0.942057471277777 0.925242721798829 NA 0.074694007752552 NA FALSE NA 0 -1.469 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00000965048 intron_variant -0.209483 0.21905 0.03272 0.126639 0.532792819350302 0.0740226 2.67936726161947e-22 FALSE 4.06848e-06 ENSE00000965351_000 ENSE00000965351 000 2 237253164 237253333 - 36 87 47 NA NA NA NA NA AGAAAAGGCAAAAGTAAGGCATGAGAAAGTCCTCACCATCTTTTCTGCGTTGGGAACTTTTTTGTAGAAGGTTTTTTCTGTGTCTTCAATCCACACCACGGAGGGCTGGAGCTGTCGAGCCACCTGCAGAGGAAAAGGCAGGGCCCTGGTTGTAAATGCACTTCCCTCTC 236344520 236344690 NA NA NA NA NA NA GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT natural 37 36 0.997439167867991 0.994737574048998 0.996088370958494 3070 2047 0.928100322264655 0.855104095072817 0.891602208668736 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 0 0 0 0 0.996088370958494 0.891602208668736 0 0 0 FALSE FALSE NA NA NA NA NA IQCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IQCA1 NA NA NA ENSG00000132321 ENSE00003621529 NA NA NA NA NA NA NA 0.00138117063159793 FALSE NA ENSE00000965351_001 ENSE00000965351 001 2 237253164 237253333 - 36 87 47 T A 237253185 5520 149 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCTTGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344541 236344542 236344542 downstr_intron 15 1.42857142857143 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCTTGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 496 270 0.994648931403109 0.999272094783502 0.996960513093305 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0665486091384534 0.144167999710685 0.996088370958494 0.891602208668736 NA 0.105358304424569 NA FALSE NA 0 -3.433 . intron_variant&NMD_transcript_variant MODIFIER IQCA1 HGNC 26195 ENST00000254653 16/19 rs370085544 1 NA A:0.0003 A:0 ATG T,A 8.277e-06 2:236344542 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 intron_variant -0.054884 0.1059 0.01704 0.053691 0.462722830660134 0.0828268 0.00138117063159793 FALSE 4.11682e-06 ENSE00000965351_002 ENSE00000965351 002 2 237253164 237253333 - 36 87 47 C A 237253194 5521 140 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGTACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344550 236344551 236344551 downstr_intron 6 1.17142857142857 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGTACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 554 622 1 0.996936477240696 0.998468238620348 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0718996777353447 0.141832382167879 0.996088370958494 0.891602208668736 NA 0.106866029951612 NA FALSE NA 0 -0.612 rs145445792 splice_region_variant&intron_variant&NMD_transcript_variant LOW IQCA1 HGNC 26195 ENST00000254653 16/19 rs145445792 1 A:0.0010 A:0.003 A:0.0014 NA A:0 A:0 A:0 A:0.0024 A:0 TCC C,A 0.0001986 2:236344551 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 splice_region_variant 0.790962 0.95003 0.07971 0.053691 0.588701492822286 0.231418 0.00138117063159793 FALSE 0.000167767 ENSE00000965351_003 ENSE00000965351 003 2 237253164 237253333 - 36 87 47 T A 237253202 5522 132 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGTTGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344558 236344559 236344559 exon -3 0.977011494252874 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGTTGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 216 561 0.995335719505455 0.970549156082071 0.982942437793763 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0672353972407996 0.115445061009253 0.996088370958494 0.891602208668736 NA 0.0913402291250265 NA FALSE NA 0 -0.014 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE IQCA1 HGNC 26195 ENST00000254653 16/20 1 tolerated(0.15) benign(0) NA ATC T,A 8.277e-06 2:236344559 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 missense_variant -0.034493 0.24637 0.05813 0.623552 0.448178473098977 0 0.00138117063159793 FALSE 4.08047e-06 ENSE00000965351_004 ENSE00000965351 004 2 237253164 237253333 - 36 87 47 C T 237253211 5523 123 AGAAAAGGCAAAAGTAAGGCATGAGAAAGTCCTCACCATCTTTTCTGTGTTGGGAACTTTTTTGTAGAAGGTTTTTTCTGTGTCTTCAATCCACACCACGGAGGGCTGGAGCTGTCGAGCCACCTGCAGAGGAAAAGGCAGGGCCCTGGTTGTAAATGCACTTCCCTCTC 236344520 236344690 236344567 236344568 236344568 exon -12 0.873563218390805 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACACAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 2608 590 0.998813261356609 0.99593554199173 0.997374401674169 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0707129390919532 0.140831446918912 0.996088370958494 0.891602208668736 NA 0.105772193005433 NA FALSE NA 0 -1.443 . missense_variant&NMD_transcript_variant MODERATE IQCA1 HGNC 26195 ENST00000254653 16/20 rs370313208 1 tolerated(0.52) benign(0.009) NA T:0.0003 T:0 GCG C,T 7.449e-05 2:236344568 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 missense_variant 0.411946 0.22198 0.03078 0.623552 0.482803986612687 0 0.00138117063159793 FALSE 4.07488e-05 ENSE00000965351_005 ENSE00000965351 005 2 237253164 237253333 - 36 87 47 G A 237253212 5524 122 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAATGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344568 236344569 236344569 exon -13 0.862068965517241 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAATGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 331 1757 1 0.996774216690888 0.998387108345444 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0718996777353447 0.141670121618071 0.996088370958494 0.891602208668736 NA 0.106784899676708 NA FALSE NA 0 -0.498 . synonymous_variant&NMD_transcript_variant LOW IQCA1 HGNC 26195 ENST00000254653 16/20 COSM1018273&COSM1018271 1 NA CGT G,A 5.793e-05 2:236344569 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 synonymous_variant -0.299274 0.20957 0.03651 0.623552 0.464003270334349 0 0.00138117063159793 FALSE 2.85214e-05 ENSE00000965351_006 ENSE00000965351 006 2 237253164 237253333 - 36 87 47 T C 237253213 5525 121 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAGCGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344569 236344570 236344570 exon -14 0.850574712643678 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAGCGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 946 316 0.99609710104322 0.999499188705037 0.997798144874129 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0679967787785645 0.14439509363222 0.996088370958494 0.891602208668736 NA 0.106195936205392 NA FALSE NA 0.014 0.942 . missense_variant&NMD_transcript_variant MODERATE IQCA1 HGNC 26195 ENST00000254653 16/20 1 tolerated(0.08) benign(0.001) NA GTT T,C 8.276e-06 2:236344570 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 missense_variant -1.302486 0.2699 0.0705 0.623552 0.499433301615919 0 0.00138117063159793 FALSE 4.07252e-06 ENSE00000965351_008 ENSE00000965351 008 2 237253164 237253333 - 36 87 47 T C 237253223 5527 111 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAGAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344579 236344580 236344580 exon -24 0.735632183908046 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAGAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 755 251 1 0.999848235455653 0.999924117727827 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0718996777353447 0.144744140382836 0.996088370958494 0.891602208668736 NA 0.10832190905909 NA FALSE NA 1 3.529 . missense_variant&NMD_transcript_variant MODERATE IQCA1 HGNC 26195 ENST00000254653 16/20 1 deleterious(0.01) possibly_damaging(0.691) NA TTT T,C 8.276e-06 2:236344580 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 missense_variant 5.279951 0.98556 0.88949 0.623552 0.998955213835385 0 0.00138117063159793 FALSE 4.06841e-06 ENSE00000965351_009 ENSE00000965351 009 2 237253164 237253333 - 36 87 47 T C 237253225 5528 109 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAGAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344581 236344582 236344582 exon -26 0.71264367816092 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAGAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 546 2537 0.996619936774658 0.998817288413754 0.997718612594206 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0685196145100028 0.143713193340937 0.996088370958494 0.891602208668736 NA 0.10611640392547 NA FALSE NA 1 3.573 . missense_variant&NMD_transcript_variant MODERATE IQCA1 HGNC 26195 ENST00000254653 16/20 1 deleterious(0.04) benign(0.309) NA TTT T,C 1.655e-05 2:236344582 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 missense_variant 2.242202 0.98593 0.91762 0.623552 0.998182973178594 0 0.00138117063159793 FALSE 1.62747e-05 ENSE00000965351_010 ENSE00000965351 010 2 237253164 237253333 - 36 87 47 T C 237253226 5529 108 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACGAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344582 236344583 236344583 exon -27 0.701149425287356 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACGAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 2114 1302 0.997974187776287 0.99854701552029 0.998260601648288 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0698738655116312 0.143442920447473 0.996088370958494 0.891602208668736 NA 0.106658392979552 NA FALSE NA 1 7.21 . missense_variant&NMD_transcript_variant MODERATE IQCA1 HGNC 26195 ENST00000254653 16/20 1 deleterious(0) probably_damaging(0.933) NA TTG T,C 8.276e-06 2:236344583 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 missense_variant 5.586828 0.99197 0.97394 0.623552 0.999090568878074 0 0.00138117063159793 FALSE 4.06845e-06 ENSE00000965351_011 ENSE00000965351 011 2 237253164 237253333 - 36 87 47 C T 237253260 5530 74 AGAAAAGGCAAAAGTAAGGCATGAGAAAGTCCTCACCATCTTTTCTGCGTTGGGAACTTTTTTGTAGAAGGTTTTTTCTGTGTCTTCAATCCACACTACGGAGGGCTGGAGCTGTCGAGCCACCTGCAGAGGAAAAGGCAGGGCCCTGGTTGTAAATGCACTTCCCTCTC 236344520 236344690 236344616 236344617 236344617 exon 27 0.310344827586207 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTAGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 36 660 1 0.958315345448477 0.979157672724239 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0718996777353447 0.10321125037566 0.996088370958494 0.891602208668736 NA 0.0875554640555022 NA FALSE NA 0.461 0.809 . synonymous_variant&NMD_transcript_variant LOW IQCA1 HGNC 26195 ENST00000254653 16/20 1 NA CCA C,T 1.655e-05 2:236344617 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 synonymous_variant 1.792217 0.97068 0.76117 0.623552 0.840243874584688 0 0.00138117063159793 FALSE 1.22113e-05 ENSE00000965351_012 ENSE00000965351 012 2 237253164 237253333 - 36 87 47 C T 237253262 5531 72 AGAAAAGGCAAAAGTAAGGCATGAGAAAGTCCTCACCATCTTTTCTGCGTTGGGAACTTTTTTGTAGAAGGTTTTTTCTGTGTCTTCAATCCACACCATGGAGGGCTGGAGCTGTCGAGCCACCTGCAGAGGAAAAGGCAGGGCCCTGGTTGTAAATGCACTTCCCTCTC 236344520 236344690 236344618 236344619 236344619 exon 25 0.28735632183908 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCATGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 796 709 1 1 1 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0718996777353447 0.144895904927183 0.996088370958494 0.891602208668736 NA 0.108397791331264 NA FALSE NA 1 7.011 . missense_variant&NMD_transcript_variant MODERATE IQCA1 HGNC 26195 ENST00000254653 16/20 1 deleterious(0) probably_damaging(0.999) NA ACG C,T 8.274e-06 2:236344619 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 missense_variant 7.339621 0.99348 0.97474 0.623552 0.999035843935478 0 0.00138117063159793 FALSE 1.62841e-05 ENSE00000965351_013 ENSE00000965351 013 2 237253164 237253333 - 36 87 47 G A 237253263 5532 71 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCTGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344619 236344620 236344620 exon 24 0.275862068965517 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCTGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 2926 369 0.97005750115604 0.984189707590578 0.977123604373309 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0419571788913849 0.129085612517761 0.996088370958494 0.891602208668736 NA 0.0855213957045728 NA FALSE NA 0.573 -0.169 . synonymous_variant&NMD_transcript_variant LOW IQCA1 HGNC 26195 ENST00000254653 16/20 rs373600719 1 A:0.0004 A:0.0008 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0001 CGG G,A 4.964e-05 2:236344620 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 synonymous_variant 2.029442 0.95121 0.47875 0.623552 0.672928724864983 0 0.00138117063159793 FALSE 4.47916e-05 ENSE00000965351_014 ENSE00000965351 014 2 237253164 237253333 - 36 87 47 G A 237253266 5533 68 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCTTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344622 236344623 236344623 exon 21 0.241379310344828 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCTTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 2008 3439 0.998452675829841 0.998791794874916 0.998622235352379 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0703523535651859 0.143687699802099 0.996088370958494 0.891602208668736 NA 0.107020026683642 NA FALSE NA 0.001 -1.661 rs181962483 synonymous_variant&NMD_transcript_variant LOW IQCA1 HGNC 26195 ENST00000254653 16/20 rs181962483 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGG G,A 0.0001324 2:236344623 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 synonymous_variant 1.031408 0.46424 0.02694 0.623552 0.606201216032311 0 0.00138117063159793 FALSE 0.000150674 ENSE00000965351_017 ENSE00000965351 017 2 237253164 237253333 - 36 87 47 C T 237253279 5536 55 AGAAAAGGCAAAAGTAAGGCATGAGAAAGTCCTCACCATCTTTTCTGCGTTGGGAACTTTTTTGTAGAAGGTTTTTTCTGTGTCTTCAATCCACACCACGGAGGGCTGGAGCTGTTGAGCCACCTGCAGAGGAAAAGGCAGGGCCCTGGTTGTAAATGCACTTCCCTCTC 236344520 236344690 236344635 236344636 236344636 exon 8 0.0919540229885057 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCAACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 785 1059 1 0.956632415907524 0.978316207953762 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0718996777353447 0.101528320834707 0.996088370958494 0.891602208668736 NA 0.0867139992850258 NA FALSE NA 0.924 2.06 . missense_variant&NMD_transcript_variant MODERATE IQCA1 HGNC 26195 ENST00000254653 16/20 rs370612474 1 deleterious(0.03) benign(0.263) T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 T:0.0003 T:0 TCG C,T 0.0002317 2:236344636 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 missense_variant 4.292086 0.32425 0.1917 0.623552 0.998996047819708 0 0.00138117063159793 FALSE 0.000257074 ENSE00000965351_018 ENSE00000965351 018 2 237253164 237253333 - 36 87 47 G C 237253294 5537 40 AGAAAAGGCAAAAGTAAGGCATGAGAAAGTCCTCACCATCTTTTCTGCGTTGGGAACTTTTTTGTAGAAGGTTTTTTCTGTGTCTTCAATCCACACCACGGAGGGCTGGAGCTGTCGAGCCACCTGCAGACGAAAAGGCAGGGCCCTGGTTGTAAATGCACTTCCCTCTC 236344520 236344690 236344650 236344651 236344651 upstr_intron -8 -0.148936170212766 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCGTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 170 849 1 1 1 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0718996777353447 0.144895904927183 0.996088370958494 0.891602208668736 NA 0.108397791331264 NA FALSE NA 0.017 1.395 . splice_region_variant&intron_variant&NMD_transcript_variant LOW IQCA1 HGNC 26195 ENST00000254653 15/19 rs202165189 1 NA C:0 C:0.0001 AGG G,C 1.655e-05 2:236344651 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 splice_region_variant -0.057774 0.34914 0.15053 0.06567 0.512105772336646 0.703808 0.00138117063159793 FALSE 2.46842e-05 ENSE00000965351_020 ENSE00000965351 020 2 237253164 237253333 - 36 87 47 G C 237253301 5539 33 AGAAAAGGCAAAAGTAAGGCATGAGAAAGTCCTCACCATCTTTTCTGCGTTGGGAACTTTTTTGTAGAAGGTTTTTTCTGTGTCTTCAATCCACACCACGGAGGGCTGGAGCTGTCGAGCCACCTGCAGAGGAAAAGCCAGGGCCCTGGTTGTAAATGCACTTCCCTCTC 236344520 236344690 236344657 236344658 236344658 upstr_intron -15 -0.297872340425532 GAGAGGGAAGTGCATTTACAACCAGGGCCCTGGCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 1690 789 0.997295381960284 0.998974023429959 0.998134702695121 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0691950596956284 0.143869928357142 0.996088370958494 0.891602208668736 NA 0.106532494026385 NA FALSE NA 0 -0.322 . intron_variant&NMD_transcript_variant MODIFIER IQCA1 HGNC 26195 ENST00000254653 15/19 1 NA GGC G,C 8.273e-06 2:236344658 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 intron_variant -0.36546 0.24511 0.02041 0.06567 0.561613716210723 0.0440564 0.00138117063159793 FALSE 4.1364e-06 ENSE00000965351_021 ENSE00000965351 021 2 237253164 237253333 - 36 87 47 G A 237253304 5540 30 GAGAGGGAAGTGCATTTACAACCAGGGCCTTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344660 236344661 236344661 upstr_intron -18 -0.361702127659574 GAGAGGGAAGTGCATTTACAACCAGGGCCTTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 267 1100 0.992372235851634 0.999060373123783 0.995716304487708 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0642719135869786 0.143956278050966 0.996088370958494 0.891602208668736 NA 0.104114095818972 NA FALSE NA 0 0.679 rs148824737 intron_variant&NMD_transcript_variant MODIFIER IQCA1 HGNC 26195 ENST00000254653 15/19 rs148824737 1 A:0.0054 A:0.0197 A:0.0014 NA A:0 A:0 A:0 A:0.0092 A:0 AGG G,A 0.001208 2:236344661 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 intron_variant -0.418326 0.19902 0.0043 0.06567 0.417206249126554 0.0440564 0.00138117063159793 FALSE 0.00116731 ENSE00000965351_022 ENSE00000965351 022 2 237253164 237253333 - 36 87 47 C A 237253307 5541 27 GAGAGGGAAGTGCATTTACAACCAGGTCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344663 236344664 236344664 upstr_intron -21 -0.425531914893617 GAGAGGGAAGTGCATTTACAACCAGGTCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 317 868 1 0.997807229516375 0.998903614758188 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0718996777353447 0.142703134443558 0.996088370958494 0.891602208668736 NA 0.107301406089451 NA FALSE NA 0 -2.32 . intron_variant&NMD_transcript_variant MODIFIER IQCA1 HGNC 26195 ENST00000254653 15/19 1 NA GCC C,A 8.274e-06 2:236344664 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 intron_variant 0.181583 0.14989 0.00381 0.06567 0.437081782062321 0.0440564 0.00138117063159793 FALSE NA ENSE00000965351_023 ENSE00000965351 023 2 237253164 237253333 - 36 87 47 T C 237253313 5542 21 GAGAGGGAAGTGCATTTACAGCCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 236344669 236344670 236344670 upstr_intron -27 -0.553191489361702 GAGAGGGAAGTGCATTTACAGCCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 368 325 0.996230790515663 0.987345542569797 0.99178816654273 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.0681304682510077 0.13224144749698 0.996088370958494 0.891602208668736 NA 0.100185957873994 NA FALSE NA 0.16 0.225 . intron_variant&NMD_transcript_variant MODIFIER IQCA1 HGNC 26195 ENST00000254653 15/19 1 NA GTT T,C 8.274e-06 2:236344670 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 intron_variant -0.100274 0.17363 0.042 0.06567 0.532646684008884 0.0440564 0.00138117063159793 FALSE NA ENSE00000965351_024 ENSE00000965351 024 2 237253164 237253333 - 36 87 47 A G 237253317 5543 17 AGAAAAGGCAAAAGTAAGGCATGAGAAAGTCCTCACCATCTTTTCTGCGTTGGGAACTTTTTTGTAGAAGGTTTTTTCTGTGTCTTCAATCCACACCACGGAGGGCTGGAGCTGTCGAGCCACCTGCAGAGGAAAAGGCAGGGCCCTGGTTGTGAATGCACTTCCCTCTC 236344520 236344690 236344673 236344674 236344674 upstr_intron -31 -0.638297872340426 GAGAGGGAAGTGCATTCACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT mutant NA NA NA NA NA 547 245 0.996564441640818 0.995528603633799 0.996046522637309 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 NA NA 0.068464119376163 0.140424508560982 0.996088370958494 0.891602208668736 NA 0.104444313968572 NA FALSE NA 0 0.042 . intron_variant&NMD_transcript_variant MODIFIER IQCA1 HGNC 26195 ENST00000254653 15/19 1 NA TAA A,G 8.274e-06 2:236344674 IQCA1 HGNC Symbol protein_coding 183395 ENSG00000132321 ENSE00003621529 intron_variant -0.010534 0.14523 0.01736 0.06567 0.647699299955854 0.0763291 0.00138117063159793 FALSE 4.31663e-06 ENSE00000965351_BRK ENSE00000965351 BRK 2 237253164 237253333 - 36 87 47 A,G; T,T NA NA NA GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCTTGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGCCGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT 236344520 236344690 NA NA NA NA NA NA GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCTTGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGCCGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT GAGAGGGAAGTGCATTTACAACCAGGGCCCTGCCTTTTCCTCTGCAGGTGGCTCGACAGCTCCAGCCCTCCGTGGTGTGGATTGAAGACACAGAAAAAACCTTCTACAAAAAAGTTCCCAACGCAGAAAAGATGGTGAGGACTTTCTCATGCCTTACTTTTGCCTTTTCT control 51 10 0 0 0 440 564 0 0 0 0.997439167867991 0.994737574048998 0.928100322264655 0.855104095072817 -0.997439167867991 -0.994737574048998 -0.928100322264655 -0.855104095072817 0.996088370958494 0.891602208668736 -0.996088370958494 -0.891602208668736 0.104486162289758 TRUE TRUE NA NA NA NA NA IQCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IQCA1 NA NA NA ENSG00000132321 ENSE00003621529 NA NA NA NA NA NA NA 0.00138117063159793 FALSE NA ENSE00000965903_000 ENSE00000965903 000 2 217303086 217303255 + 57 66 47 NA NA NA NA NA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 NA NA NA NA NA NA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA natural 18 18 0.996053910288464 0.999703204125215 0.997878557206839 2003 2139 0.992835725228779 0.998610895115634 0.995723310172206 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 0 0 0 0 0.997878557206839 0.995723310172206 0 0 0 FALSE FALSE NA NA NA NA NA SMARCAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMARCAL1 NA NA NA ENSG00000138375 ENSE00000965903 NA NA NA NA NA NA NA 0.000314358585842015 FALSE NA ENSE00000965903_003 ENSE00000965903 003 2 217303086 217303255 + 57 66 47 A G 217303102 4534 17 ATATTTCTGTCCACTCGGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438378 216438379 216438379 upstr_intron -41 -0.701754385964912 ATATTTCTGTCCACTCGGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 573 411 0.99973246063953 1 0.999866230319765 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.00689673541075086 0.00138910488436628 0.997878557206839 0.995723310172206 NA 0.00414292014755857 NA FALSE NA 0 0.068 . intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 9/17 1 NA CAG A,G 1.647e-05 2:216438379 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant 0.457335 0.16932 0.05835 0.156188 0.813367577148423 0.0447689 0.000314358585842015 FALSE 8.16793e-06 ENSE00000965903_005 ENSE00000965903 005 2 217303086 217303255 + 57 66 47 T C 217303106 4536 21 ATATTTCTGTCCACTCAGGACTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438382 216438383 216438383 upstr_intron -37 -0.631578947368421 ATATTTCTGTCCACTCAGGACTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 249 177 1 1 1 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.00716427477122106 0.00138910488436628 0.997878557206839 0.995723310172206 NA 0.00427668982779367 NA FALSE NA 0 -0.499 . intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 9/17 1 NA ATT T,C 1.647e-05 2:216438383 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant 0.174298 0.16132 0.01927 0.156188 0.721298924993164 0.0447689 0.000314358585842015 FALSE 8.15721e-06 ENSE00000965903_006 ENSE00000965903 006 2 217303086 217303255 + 57 66 47 C T 217303118 4537 33 ATATTTCTGTCCACTCAGGATTGGATCTTGTATACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438394 216438395 216438395 upstr_intron -25 -0.421052631578947 ATATTTCTGTCCACTCAGGATTGGATCTTGTATACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 407 79 0.999898842387465 1 0.999949421193732 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.00706311715868557 0.00138910488436628 0.997878557206839 0.995723310172206 NA 0.00422611102152592 NA FALSE NA 0.004 0.339 . intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 9/17 rs528703176 1 T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 ACA C,T 5.765e-05 2:216438395 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant 0.32639 0.4797 0.0616 0.156188 0.619876344249199 0.0447689 0.000314358585842015 FALSE 4.06924e-05 ENSE00000965903_007 ENSE00000965903 007 2 217303086 217303255 + 57 66 47 T A 217303124 4538 39 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTAAGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438400 216438401 216438401 upstr_intron -19 -0.315789473684211 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTAAGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 267 317 0.825737310602783 0.999500769594891 0.912619040098837 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA -0.167098414625996 0.000889874479257591 0.997878557206839 0.995723310172206 NA -0.0831042700733693 NA FALSE NA 0 -1.477 NA NA NA SMARCAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:216438401 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant -0.275159 0.11869 0.07966 0.156188 0.426499978583689 0.0448023 0.000314358585842015 FALSE 2.84636e-05 ENSE00000965903_009 ENSE00000965903 009 2 217303086 217303255 + 57 66 47 G A 217303128 4540 43 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGACTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438404 216438405 216438405 upstr_intron -15 -0.245614035087719 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGACTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 521 239 1 0.99541311924156 0.99770655962078 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.00716427477122106 -0.0031977758740741 0.997878557206839 0.995723310172206 NA 0.00198324944857348 NA FALSE NA 0 0.393 . intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 9/17 1 NA GGC G,A 8.236e-06 2:216438405 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant -0.106133 0.22932 0.02064 0.156188 0.452411921323869 0.0448023 0.000314358585842015 FALSE 4.06613e-06 ENSE00000965903_010 ENSE00000965903 010 2 217303086 217303255 + 57 66 47 T C 217303133 4541 48 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACCTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438409 216438410 216438410 upstr_intron -10 -0.157894736842105 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACCTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 901 773 0.999954315945518 0.998104212415131 0.999029264180324 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.00711859071673948 -0.000506682700503136 0.997878557206839 0.995723310172206 NA 0.00330595400811817 NA FALSE NA 0.959 1.225 . intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 9/17 1 NA CTT T,C 1.647e-05 2:216438410 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant 1.929357 0.88062 0.80254 0.156188 0.759017146542285 0.250707 0.000314358585842015 FALSE 8.13054e-06 ENSE00000965903_012 ENSE00000965903 012 2 217303086 217303255 + 57 66 47 T C 217303169 4543 84 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGCAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438445 216438446 216438446 exon 27 0.409090909090909 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGCAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 381 625 0.983507221273586 1 0.991753610636793 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA -0.00932850395519313 0.00138910488436628 0.997878557206839 0.995723310172206 NA -0.00396969953541343 NA FALSE NA 0.008 -1.164 . synonymous_variant LOW SMARCAL1 HGNC 11102 ENST00000357276 10/18 1 NA GTA T,C 2.471e-05 2:216438446 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 synonymous_variant 0.709143 0.68609 0.08802 0.706298 0.568858773690082 0 0.000314358585842015 FALSE 1.21915e-05 ENSE00000965903_014 ENSE00000965903 014 2 217303086 217303255 + 57 66 47 G A 217303180 4545 95 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCACTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438456 216438457 216438457 exon -29 0.575757575757576 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCACTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 298 116 0.994341690885204 0.997331442800826 0.995836566843015 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.0015059656564248 -0.00127945231480742 0.997878557206839 0.995723310172206 NA 0.000113256670808692 NA FALSE NA 1 8.186 . missense_variant MODERATE SMARCAL1 HGNC 11102 ENST00000357276 10/18 SMARCAL1base_D0079:g.24753G>A&CM101360 1 deleterious(0) probably_damaging(0.992) NA CGC G,A 1.647e-05 2:216438457 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 missense_variant 7.633218 0.99161 0.98723 0.706298 0.999365713569888 0 0.000314358585842015 FALSE 1.62632e-05 ENSE00000965903_016 ENSE00000965903 016 2 217303086 217303255 + 57 66 47 A G 217303194 4547 109 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTGTGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438470 216438471 216438471 exon -15 0.787878787878788 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTGTGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 80 4050 1 0.995768869988297 0.997884434994148 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.00716427477122106 -0.002842025127337 0.997878557206839 0.995723310172206 NA 0.00216112482194203 NA FALSE NA 0.009 0.197 . missense_variant MODERATE SMARCAL1 HGNC 11102 ENST00000357276 10/18 CP025180 1 tolerated(0.2) benign(0.02) NA TAT A,G 8.236e-06 2:216438471 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 missense_variant -0.874002 0.22127 0.06684 0.706298 0.383763891781855 0 0.000314358585842015 FALSE NA ENSE00000965903_020 ENSE00000965903 020 2 217303086 217303255 + 57 66 47 G A 217303199 4551 114 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCAGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438475 216438476 216438476 exon -10 0.863636363636364 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCAGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 566 764 0.982718117804959 0.987375692345506 0.985046905075232 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA -0.0101176074238204 -0.0112352027701279 0.997878557206839 0.995723310172206 NA -0.0106764050969742 NA FALSE NA 0.987 0.45 . synonymous_variant LOW SMARCAL1 HGNC 11102 ENST00000357276 10/18 COSM1405382 1 NA CGG G,A 8.236e-06 2:216438476 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 synonymous_variant 1.318838 0.96086 0.71041 0.706298 0.645670226176954 0 0.000314358585842015 FALSE NA ENSE00000965903_023 ENSE00000965903 023 2 217303086 217303255 + 57 66 47 G A 217303230 4554 145 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAACCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438506 216438507 216438507 downstr_intron 22 1.47826086956522 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAACCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 99 294 1 0.992941597227407 0.996470798613703 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.00716427477122106 -0.0056692978882269 0.997878557206839 0.995723310172206 NA 0.000747488441497079 NA FALSE NA 0.003 0.56 . intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 10/17 rs562074009 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGC G,A 8.237e-06 2:216438507 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant 0.278307 0.15119 0.09232 0.062308 0.807770085488006 0.110855 0.000314358585842015 FALSE 4.09289e-06 ENSE00000965903_024 ENSE00000965903 024 2 217303086 217303255 + 57 66 47 C T 217303231 4555 146 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGTCCACTGAGCATTGGCATCCCATAA 216438362 216438532 216438507 216438508 216438508 downstr_intron 23 1.5 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGTCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 349 230 0.982879253068507 1 0.991439626534253 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA -0.00995647216027218 0.00138910488436628 0.997878557206839 0.995723310172206 NA -0.00428368363795295 NA FALSE NA 0.001 0.021 . intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 10/17 rs373106341 1 NA T:0.0002 T:0 GCC C,T 8.237e-06 2:216438508 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant 0.312474 0.15115 0.10069 0.062308 0.759995223309409 0.109603 0.000314358585842015 FALSE 4.09494e-06 ENSE00000965903_025 ENSE00000965903 025 2 217303086 217303255 + 57 66 47 G T 217303239 4556 154 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGATCATTGGCATCCCATAA 216438362 216438532 216438515 216438516 216438516 downstr_intron 31 1.67391304347826 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGATCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 327 234 0.994986007245253 0.79633436589388 0.895660186569566 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.0021502820164736 -0.202276529221754 0.997878557206839 0.995723310172206 NA -0.10006312360264 NA FALSE NA 0 -0.452 rs111626731 intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 10/17 rs111626731 1 T:0.0018 T:0.0061 T:0.0014 NA T:0 T:0 T:0 T:0.0079 T:0 AGC G,T 0.0007578 2:216438516 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant -0.001959 0.17204 0.03159 0.062308 0.576271360173793 0.0477024 0.000314358585842015 FALSE 0.0006763 ENSE00000965903_026 ENSE00000965903 026 2 217303086 217303255 + 57 66 47 A T 217303241 4557 156 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCTTTGGCATCCCATAA 216438362 216438532 216438517 216438518 216438518 downstr_intron 33 1.71739130434783 ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCTTTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA mutant NA NA NA NA NA 102 454 1 1 1 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA 0.00716427477122106 0.00138910488436628 0.997878557206839 0.995723310172206 NA 0.00427668982779367 NA FALSE NA 0 -2.403 . intron_variant MODIFIER SMARCAL1 HGNC 11102 ENST00000357276 10/17 1 NA CAT A,T 8.237e-06 2:216438518 SMARCAL1 HGNC Symbol protein_coding 70639 ENSG00000138375 ENSE00000965903 intron_variant -0.247735 0.0942 0.00691 0.062308 0.631497962850115 0.0625886 0.000314358585842015 FALSE 1.23923e-05 ENSE00000965903_BRK ENSE00000965903 BRK 2 217303086 217303255 + 57 66 47 A,G; T,T NA NA NA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCTTGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGCCGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA 216438362 216438532 NA NA NA NA NA NA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCTTGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGCCGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA ATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAA control NA NA NA NA NA 423 919 0.060220734632106 0.0270505962033291 0.0436356654177176 0.996053910288464 0.999703204125215 0.992835725228779 0.998610895115634 NA NA -0.932614990596673 -0.971560298912305 0.997878557206839 0.995723310172206 NA -0.952087644754489 NA TRUE NA NA NA NA NA NA SMARCAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMARCAL1 NA NA NA ENSG00000138375 ENSE00000965903 NA NA NA NA NA NA NA 0.000314358585842015 FALSE NA ENSE00000967342_000 ENSE00000967342 000 3 108103502 108103671 - 32 96 42 NA NA NA NA NA TCCATGAGGCTGAAACTTCCCCAGGCACTCACCGCCACCTCGACTTGCTGCTTGTAATTTTGCACTTTTAGCTGAAGTTTATCCATCTGAGTTTGCATCCTGCTCAGATTCTTCTTGTCTTCCTCTGCCTGCAATACATAGGCATGTATGGGAAGGTGATTCAGAGGATC 108384654 108384824 NA NA NA NA NA NA GATCCTCTGAATCACCTTCCCATACATGCCTATGTATTGCAGGCAGAGGAAGACAAGAAGAATCTGAGCAGGATGCAAACTCAGATGGATAAACTTCAGCTAAAAGTGCAAAATTACAAGCAGCAAGTCGAGGTGGCGGTGAGTGCCTGGGGAAGTTTCAGCCTCATGGA GATCCTCTGAATCACCTTCCCATACATGCCTATGTATTGCAGGCAGAGGAAGACAAGAAGAATCTGAGCAGGATGCAAACTCAGATGGATAAACTTCAGCTAAAAGTGCAAAATTACAAGCAGCAAGTCGAGGTGGCGGTGAGTGCCTGGGGAAGTTTCAGCCTCATGGA natural NA NA NA NA NA 648 46 0.991186402070716 0.99747876815964 0.994332585115178 NA NA 0.991186402070716 0.99747876815964 NA NA 0 0 NA 0.994332585115178 NA 0 NA FALSE NA NA NA NA NA NA MYH15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYH15 NA NA NA ENSG00000144821 ENSE00000967342 NA NA NA NA NA NA NA 4.73936233784156e-39 FALSE NA ENSE00000967342_005 ENSE00000967342 005 3 108103502 108103671 - 32 96 42 C T 108103527 2284 145 TCCATGAGGCTGAAACTTCCCCAGGTACTCACCGCCACCTCGACTTGCTGCTTGTAATTTTGCACTTTTAGCTGAAGTTTATCCATCTGAGTTTGCATCCTGCTCAGATTCTTCTTGTCTTCCTCTGCCTGCAATACATAGGCATGTATGGGAAGGTGATTCAGAGGATC 108384654 108384824 108384679 108384680 108384680 downstr_intron 7 1.2258064516129 GATCCTCTGAATCACCTTCCCATACATGCCTATGTATTGCAGGCAGAGGAAGACAAGAAGAATCTGAGCAGGATGCAAACTCAGATGGATAAACTTCAGCTAAAAGTGCAAAATTACAAGCAGCAAGTCGAGGTGGCGGTGAGTACCTGGGGAAGTTTCAGCCTCATGGA GATCCTCTGAATCACCTTCCCATACATGCCTATGTATTGCAGGCAGAGGAAGACAAGAAGAATCTGAGCAGGATGCAAACTCAGATGGATAAACTTCAGCTAAAAGTGCAAAATTACAAGCAGCAAGTCGAGGTGGCGGTGAGTGCCTGGGGAAGTTTCAGCCTCATGGA mutant NA NA NA NA NA 111 335 0.922848422067833 1 0.961424211033916 NA NA 0.991186402070716 0.99747876815964 NA NA -0.0683379800028827 0.00252123184035957 NA 0.994332585115178 NA -0.0329083740812616 NA FALSE NA 0 -3.755 . splice_region_variant&intron_variant LOW MYH15 HGNC 31073 ENST00000273353 40/41 rs201464785 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0037 T:0 GCA C 0.0002232 3:108384680 MYH15 HGNC Symbol protein_coding 148953 ENSG00000144821 ENSE00000967342 splice_region_variant 0.350528 0.25369 0.01893 0.085619 0.7765705806238 0.180522 4.73936233784156e-39 FALSE 0.000187379 ENSE00000967369_000 ENSE00000967369 000 3 107884230 107884399 - 48 63 59 NA NA NA NA NA TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACTGATGCTCTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC 108165382 108165552 NA NA NA NA NA NA TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACTGATGCTCTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACTGATGCTCTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC natural 40 43 0.971214016224141 0.98335400021726 0.977284008220701 2527 1541 0.986405632196796 0.879536417948999 0.932971025072898 0.971214016224141 0.98335400021726 0.986405632196796 0.879536417948999 0 0 0 0 0.977284008220701 0.932971025072898 0 0 0 FALSE FALSE NA NA NA NA NA IFT57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT57 NA NA NA ENSG00000114446 ENSE00000967369 NA NA NA NA NA NA NA 4.07945731178608e-06 FALSE NA ENSE00000967369_003 ENSE00000967369 003 3 107884230 107884399 - 48 63 59 G A 107884262 2240 138 TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACTGATGCTTTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC 108165382 108165552 108165414 108165415 108165415 downstr_intron 16 1.34042553191489 TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACTGATGCTTTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACTGATGCTCTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC mutant NA NA NA NA NA 962 285 0.999840670735264 1 0.999920335367632 0.971214016224141 0.98335400021726 0.986405632196796 0.879536417948999 NA NA 0.0134350385384676 0.120463582051001 0.977284008220701 0.932971025072898 NA 0.0669493102947342 NA FALSE NA 0 0.094 . downstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA AGA G,A 8.238e-06 3:108165415 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00000967369 intron_variant -0.143896 0.18664 0.04421 0.164513 0.343827905525589 0.0476178 4.07945731178608e-06 FALSE 4.07724e-06 ENSE00000967369_005 ENSE00000967369 005 3 107884230 107884399 - 48 63 59 A G 107884269 2242 131 TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACCGATGCTCTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC 108165382 108165552 108165421 108165422 108165422 downstr_intron 9 1.19148936170213 TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACCGATGCTCTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC TCGTATTTAATCTGCTGCTGCTTTGAATTTGCCATTAAACAAAATGTTTTTCCTCTCAGGCAAAGGAGCGATACCAGCAGGGAAATGGAGGAGTGACGGAAAGAACCAGACTCCTCTCTGAGGTACACACTGATGCTCTTGCCCTGCTTCTCACCTGTCAGCTGGGCCCC mutant NA NA NA NA NA 90 102 1 1 1 0.971214016224141 0.98335400021726 0.986405632196796 0.879536417948999 NA NA 0.0135943678032039 0.120463582051001 0.977284008220701 0.932971025072898 NA 0.0670289749271024 NA FALSE NA 0 -1.192 rs62264150 downstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs62264150 1 G:0.0954 G:0.0855 G:0.085 NA G:0.1052 G:0.1074 G:0.0941 G:0.0872 G:0.1059 CAG G,G 0.091 3:108165422 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00000967369 intron_variant 0.313485 0.05847 0.00207 0.164513 0.467303286289514 0.0476178 4.07945731178608e-06 FALSE 0.0906635 ENSE00000967767_000 ENSE00000967767 000 3 151126986 151127155 + 45 90 35 NA NA NA NA NA CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 NA NA NA NA NA NA CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT natural 461 536 0.869891041975988 0.842172812255696 0.856031927115842 2829 2900 0.890914582755043 0.884338864717471 0.887626723736257 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 0 0 0 0 0.856031927115842 0.887626723736257 0 0 0 FALSE FALSE NA NA NA NA NA MED12L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED12L NA NA NA ENSG00000144893 ENSE00000967767 NA NA NA NA NA NA NA 0.99999927637145 TRUE NA ENSE00000967767_001 ENSE00000967767 001 3 151126986 151127155 + 45 90 35 T C 151126998 3347 13 CCCTTGCTGTTACGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409209 151409210 151409210 upstr_intron -33 -0.711111111111111 CCCTTGCTGTTACGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 1089 702 0.8 0.811391796519934 0.805695898259967 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.0909145827550428 -0.0729470681975367 0.856031927115842 0.887626723736257 NA -0.0819308254762898 NA FALSE NA 0.977 1.008 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA ATG T,C 8.238e-06 3:151409210 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 intron_variant 1.70814 0.968 0.90582 0.053691 0.709283155753038 0.155619 0.99999927637145 TRUE 5.07444e-06 ENSE00000967767_002 ENSE00000967767 002 3 151126986 151127155 + 45 90 35 T C 151127010 3348 25 CCCTTGCTGTTATGATCAAGAGTTCGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409221 151409222 151409222 upstr_intron -21 -0.444444444444444 CCCTTGCTGTTATGATCAAGAGTTCGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 778 67 0.857154268660336 0.802156137099066 0.829655202879701 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.0337603140947074 -0.0821827276184047 0.856031927115842 0.887626723736257 NA -0.057971520856556 NA FALSE NA 0.002 0.484 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA TTG T,C 8.237e-06 3:151409222 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 intron_variant 0.009998 0.16845 0.02087 0.053691 0.495280122799966 0.0862078 0.99999927637145 TRUE 4.80155e-06 ENSE00000967767_003 ENSE00000967767 003 3 151126986 151127155 + 45 90 35 G C 151127011 3349 26 CCCTTGCTGTTATGATCAAGAGTTTCCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409222 151409223 151409223 upstr_intron -20 -0.422222222222222 CCCTTGCTGTTATGATCAAGAGTTTCCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 840 458 0.920223407147327 0.945921059637068 0.933072233392197 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.0293088243922837 0.0615821949195975 0.856031927115842 0.887626723736257 NA 0.0454455096559406 NA FALSE NA 0 -1.418 rs185735961 intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 rs185735961 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TGC G,C 8.237e-06 3:151409223 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 intron_variant -0.538987 0.14038 0.05268 0.053691 0.614205793204875 0.0862078 0.99999927637145 TRUE 4.76876e-06 ENSE00000967767_004 ENSE00000967767 004 3 151126986 151127155 + 45 90 35 T C 151127014 3350 29 CCCTTGCTGTTATGATCAAGAGTTTGCTCTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409225 151409226 151409226 upstr_intron -17 -0.355555555555556 CCCTTGCTGTTATGATCAAGAGTTTGCTCTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 503 114 0.0141116636143699 0.0028192211149805 0.00846544236467518 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.876802919140673 -0.88151964360249 0.856031927115842 0.887626723736257 NA -0.879161281371582 NA TRUE NA 0.014 2.155 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA TTT T,C 8.237e-06 3:151409226 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 intron_variant 0.810013 0.26539 0.08668 0.053691 0.74255258747248 0.0969652 0.99999927637145 TRUE 4.7755e-06 ENSE00000967767_007 ENSE00000967767 007 3 151126986 151127155 + 45 90 35 G A 151127032 3353 47 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGACCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409243 151409244 151409244 exon 2 0.0222222222222222 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGACCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 376 1132 0.996669478526761 0.999899079269291 0.998284278898026 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.105754895771718 0.11556021455182 0.856031927115842 0.887626723736257 NA 0.110657555161769 NA FALSE NA 1 3.348 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA GGC G,A 0.0003706 3:151409244 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 4.105618 0.98285 0.92919 0.615465 0.992419192119058 0 0.99999927637145 TRUE 0.000387558 ENSE00000967767_008 ENSE00000967767 008 3 151126986 151127155 + 45 90 35 C T 151127038 3354 53 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCTGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409249 151409250 151409250 exon 8 0.0888888888888889 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCTGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 700 349 0.00109452924475411 0.00145009935067956 0.00127231429771684 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.889820053510289 -0.882888765366791 0.856031927115842 0.887626723736257 NA -0.88635440943854 NA TRUE NA 0.992 3.232 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA CCG C,T 8.237e-06 3:151409250 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 4.167341 0.98911 0.94643 0.615465 0.938742099155896 0 0.99999927637145 TRUE 4.48025e-06 ENSE00000967767_010 ENSE00000967767 010 3 151126986 151127155 + 45 90 35 C A 151127050 3356 65 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGATGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409261 151409262 151409262 exon 20 0.222222222222222 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGATGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 252 135 0.999391349962339 0.994743534162202 0.997067442062271 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.108476767207296 0.110404669444731 0.856031927115842 0.887626723736257 NA 0.109440718326014 NA FALSE NA 1 4.755 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA GCT C,A 8.236e-06 3:151409262 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 5.507491 0.98961 0.96771 0.615465 0.994877213538603 0 0.99999927637145 TRUE 4.19618e-06 ENSE00000967767_011 ENSE00000967767 011 3 151126986 151127155 + 45 90 35 T C 151127054 3357 69 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCCCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409265 151409266 151409266 exon 24 0.266666666666667 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCCCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 998 131 0.000383427248875771 0.00245168355808807 0.00141755540348192 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.890531155506167 -0.881887181159383 0.856031927115842 0.887626723736257 NA -0.886209168332775 NA TRUE NA 1 1.608 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 rs377205019 1 NA C:0 C:0.0001 CTC T,C 8.236e-06 3:151409266 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 synonymous_variant 0.322917 0.9782 0.84942 0.615465 0.728381509409204 0 0.99999927637145 TRUE 4.1674e-06 ENSE00000967767_013 ENSE00000967767 013 3 151126986 151127155 + 45 90 35 T C 151127059 3359 74 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTCTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409270 151409271 151409271 exon 29 0.322222222222222 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTCTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 1809 1405 0.948894541502182 0.942250840346951 0.945572690924567 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.0579799587471393 0.05791197562948 0.856031927115842 0.887626723736257 NA 0.0579459671883097 NA FALSE NA 1 3.268 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA TTT T,C 1.647e-05 3:151409271 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 2.733328 0.9789 0.90197 0.615465 0.983549543746019 0 0.99999927637145 TRUE 8.28727e-06 ENSE00000967767_014 ENSE00000967767 014 3 151126986 151127155 + 45 90 35 T C 151127060 3360 75 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTCGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409271 151409272 151409272 exon 30 0.333333333333333 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTCGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 311 250 0.997323028948307 0.999847627816897 0.998585328382602 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.106408446193264 0.115508763099426 0.856031927115842 0.887626723736257 NA 0.110958604646345 NA FALSE NA 1 0.469 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA TTG T,C 1.647e-05 3:151409272 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 synonymous_variant 0.207952 0.97791 0.68171 0.615465 0.69762441192466 0 0.99999927637145 TRUE 1.24364e-05 ENSE00000967767_015 ENSE00000967767 015 3 151126986 151127155 + 45 90 35 C T 151127065 3361 80 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGTGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409276 151409277 151409277 exon 35 0.388888888888889 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGTGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 484 500 0.800665643606456 0.800577608190868 0.800621625898662 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.0902489391485869 -0.0837612565266025 0.856031927115842 0.887626723736257 NA -0.0870050978375947 NA FALSE NA 0.999 1.634 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 COSM1214822 1 NA GCG C,T 4.118e-05 3:151409277 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 3.862068 0.97597 0.82299 0.615465 0.983339370831771 0 0.99999927637145 TRUE 3.72116e-05 ENSE00000967767_017 ENSE00000967767 017 3 151126986 151127155 + 45 90 35 C T 151127073 3363 88 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCATGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409284 151409285 151409285 exon 43 0.477777777777778 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCATGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 129 286 0.802495347685259 0.876356449637006 0.839425898661132 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.0884192350697837 -0.00798241508046493 0.856031927115842 0.887626723736257 NA -0.0482008250751243 NA FALSE NA 0.993 3.231 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA ACG C,T 1.647e-05 3:151409285 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 6.889872 0.98899 0.94798 0.615465 0.999087032562685 0 0.99999927637145 TRUE 1.23076e-05 ENSE00000967767_018 ENSE00000967767 018 3 151126986 151127155 + 45 90 35 G A 151127074 3364 89 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACAGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409285 151409286 151409286 exon 44 0.488888888888889 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACAGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 440 78 0.800366154511747 0.801851920365108 0.801109037438427 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.0905484282432963 -0.0824869443523629 0.856031927115842 0.887626723736257 NA -0.0865176862978296 NA FALSE NA 1 3.424 rs78970280 intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 rs78970280 1 A:0.0072 A:0.0265 A:0.0014 NA A:0 A:0 A:0 A:0.0168 A:0 CGG G,A 0.001672 3:151409286 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 4.241512 0.98944 0.92997 0.615465 0.994138840315327 0 0.99999927637145 TRUE 0.00133292 ENSE00000967767_019 ENSE00000967767 019 3 151126986 151127155 + 45 90 35 G C 151127087 3365 102 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCACCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409298 151409299 151409299 exon -34 0.633333333333333 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCACCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 422 35 0.950143880600582 0.915872841570878 0.93300836108573 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.0592292978455388 0.0315339768534072 0.856031927115842 0.887626723736257 NA 0.045381637349473 NA FALSE NA 1 0.72 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 rs201605378 1 NA AGC G,C 0.00014 3:151409299 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 2.578274 0.97012 0.89535 0.615465 0.996220417118475 0 0.99999927637145 TRUE 0.000151043 ENSE00000967767_020 ENSE00000967767 020 3 151126986 151127155 + 45 90 35 G A 151127096 3366 111 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAATATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409307 151409308 151409308 exon -25 0.733333333333333 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAATATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 45 93 0.835226696063313 0.803107458621392 0.819167077342352 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.05568788669173 -0.0812314060960792 0.856031927115842 0.887626723736257 NA -0.0684596463939046 NA FALSE NA 1 1.952 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA AGT G,A 8.236e-06 3:151409308 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 synonymous_variant 0.541472 0.96203 0.84433 0.615465 0.552653687650281 0 0.99999927637145 TRUE 4.0789e-06 ENSE00000967767_021 ENSE00000967767 021 3 151126986 151127155 + 45 90 35 T G 151127097 3367 112 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGGATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409308 151409309 151409309 exon -24 0.744444444444444 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGGATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 1112 1011 0.99877227901605 0.996420589864987 0.997596434440518 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.107857696261007 0.112081725147516 0.856031927115842 0.887626723736257 NA 0.109969710704262 NA FALSE NA 1 4.838 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA GTA T,G 8.236e-06 3:151409309 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 6.045038 0.98858 0.97748 0.615465 0.992369220904402 0 0.99999927637145 TRUE 4.07907e-06 ENSE00000967767_024 ENSE00000967767 024 3 151126986 151127155 + 45 90 35 A G 151127113 3370 128 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCGAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409324 151409325 151409325 exon -8 0.922222222222222 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCGAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 1707 596 0.951451608722694 0.927237678248551 0.939344643485622 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.0605370259676508 0.0428988135310802 0.856031927115842 0.887626723736257 NA 0.0517179197493655 NA FALSE NA 1 2.269 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA CAA A,G 8.236e-06 3:151409325 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 missense_variant 1.441369 0.97138 0.93075 0.615465 0.988882234950364 0 0.99999927637145 TRUE 4.07854e-06 ENSE00000967767_025 ENSE00000967767 025 3 151126986 151127155 + 45 90 35 A G 151127127 3371 142 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCGCATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 151409338 151409339 151409339 downstr_intron 7 1.20588235294118 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCGCATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 1228 123 0.765000625876101 0.8 0.782500312938051 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.125913956878942 -0.0843388647174708 0.856031927115842 0.887626723736257 NA -0.105126410798206 NA FALSE NA 0 -0.16 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA CAC A,G 8.236e-06 3:151409339 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 splice_region_variant 0.311862 0.29963 0.02284 0.053691 0.636478934758515 0.179275 0.99999927637145 TRUE 4.08197e-06 ENSE00000967767_026 ENSE00000967767 026 3 151126986 151127155 + 45 90 35 G A 151127142 3372 157 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGATACTGACAGGATT 151409197 151409367 151409353 151409354 151409354 downstr_intron 22 1.64705882352941 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGATACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 795 750 0.816493938796272 0.903848721632418 0.860171330214345 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA -0.0744206439587705 0.0195098569149476 0.856031927115842 0.887626723736257 NA -0.0274553935219115 NA FALSE NA 0 -0.863 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA GGT G,A 2.471e-05 3:151409354 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 intron_variant 0.076994 0.15027 0.00637 0.053691 0.585899006229944 0.0609381 0.99999927637145 TRUE 1.22724e-05 ENSE00000967767_027 ENSE00000967767 027 3 151126986 151127155 + 45 90 35 A G 151127144 3373 159 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTGCTGACAGGATT 151409197 151409367 151409355 151409356 151409356 downstr_intron 24 1.70588235294118 CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTGCTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT mutant NA NA NA NA NA 523 139 0.956098077655286 0.929310046532511 0.942704062093898 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 NA NA 0.0651834949002436 0.0449711818150398 0.856031927115842 0.887626723736257 NA 0.0550773383576417 NA FALSE NA 0 -0.949 . intron_variant&non_coding_transcript_variant MODIFIER MED12L HGNC 16050 ENST00000488092 1/2 1 NA TAC A,G 8.236e-06 3:151409356 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00000967767 intron_variant 0.108143 0.14697 0.01303 0.053691 0.634791885386698 0.0609381 0.99999927637145 TRUE 4.08995e-06 ENSE00000967767_BRK ENSE00000967767 BRK 3 151126986 151127155 + 45 90 35 A,G; T,T NA NA NA CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCTTGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGCCACCCACATTTGCTTTGTAGGTACTGACAGGATT 151409197 151409367 NA NA NA NA NA NA CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCTTGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGCCACCCACATTTGCTTTGTAGGTACTGACAGGATT CCCTTGCTGTTATGATCAAGAGTTTGCTTTGGCTTTGTTTTCCAGGGCCAGCCGGGGGACCAGGCTGCTCTCTTTGCTGCGCAAGCACGGCCCTCCCCTCAGCTCCCTCAGTATCCAGGGCTGCAGCAAGCACAGGTACCCACATTTGCTTTGTAGGTACTGACAGGATT control 186 116 0 0.0283126588967244 0.0141563294483622 NA NA NA NA NA 0.869891041975988 0.842172812255696 0.890914582755043 0.884338864717471 -0.869891041975988 -0.813860153358972 NA NA 0.856031927115842 0.887626723736257 -0.84187559766748 NA NA NA TRUE NA NA NA NA NA MED12L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED12L NA NA NA ENSG00000144893 ENSE00000967767 NA NA NA NA NA NA NA 0.99999927637145 TRUE NA ENSE00000968373_000 ENSE00000968373 000 3 49462756 49462925 - 44 72 54 NA NA NA NA NA GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG 49425322 49425492 NA NA NA NA NA NA GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG GTCCCAGAGCTGTCCACTTTGTCTCACTCAGGGCAGTACATCTTTGCTTTGCAGAGCCCCTCCGTGACCTTTCCCAAGTGGCTCTCCCACCCAGTGCCCTGTGAGCAACCTGCACTCCTCCGTGAGGTAAGCCCTCACCCTAGGTAAGAACCATGTGTGAATGGCTCTAG natural 173 256 0.85 0.841339548216762 0.845669774108381 1548 383 0.948101706843408 0.938551841686114 0.943326774264761 0.85 0.841339548216762 0.948101706843408 0.938551841686114 0 0 0 0 0.845669774108381 0.943326774264761 0 0 0 FALSE FALSE NA NA NA NA NA AMT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NICN1 NA NA NA ENSG00000145029 ENSE00003793218 NA NA NA NA NA NA NA 0.257245528868092 FALSE NA ENSE00000968683_000 ENSE00000968683 000 3 183436244 183436413 + 44 93 33 NA NA NA NA NA ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC 183718455 183718625 NA NA NA NA NA NA ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC natural 164 111 0.888462171662344 0.85 0.869231085831172 3023 2190 0.993073677747347 0.950812864240397 0.971943270993872 0.888462171662344 0.85 0.993073677747347 0.950812864240397 0 0 0 0 0.869231085831172 0.971943270993872 0 0 0 FALSE FALSE NA NA NA NA NA YEATS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YEATS2 NA NA NA ENSG00000163872 ENSE00000968683 NA NA NA NA NA NA NA 0.999977828893892 TRUE NA ENSE00000968683_001 ENSE00000968683 001 3 183436244 183436413 + 44 93 33 A G 183436265 3693 22 ATAATTGCCGTTTTTTAAAGTGATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC 183718455 183718625 183718476 183718477 183718477 upstr_intron -23 -0.5 ATAATTGCCGTTTTTTAAAGTGATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC mutant NA NA NA NA NA 176 484 0.8 0.653619363523678 0.726809681761839 0.888462171662344 0.85 0.993073677747347 0.950812864240397 NA NA -0.193073677747346 -0.297193500716718 0.869231085831172 0.971943270993872 NA -0.245133589232032 NA FALSE NA 0.48 1.259 . intron_variant MODIFIER YEATS2 HGNC 25489 ENST00000305135 3/30 1 NA TAA A 6.622e-05 3:183718477 YEATS2 HGNC Symbol protein_coding 114807 ENSG00000163872 ENSE00000968683 intron_variant 0.517387 0.20522 0.55616 0.156188 0.585918377194545 0.0455939 0.999977828893892 TRUE 5.12352e-05 ENSE00000968683_008 ENSE00000968683 008 3 183436244 183436413 + 44 93 33 A G 183436349 3700 106 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTGTGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC 183718455 183718625 183718560 183718561 183718561 exon -32 0.666666666666667 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTGTGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC mutant NA NA NA NA NA 292 23 0.973235359782649 0.998327998473656 0.985781679128153 0.888462171662344 0.85 0.993073677747347 0.950812864240397 NA NA -0.0198383179646973 0.0475151342332591 0.869231085831172 0.971943270993872 NA 0.0138384081342809 NA FALSE NA 1 5.686 . missense_variant MODERATE YEATS2 HGNC 25489 ENST00000305135 4/31 1 deleterious(0) probably_damaging(0.995) NA TAT A 8.276e-06 3:183718561 YEATS2 HGNC Symbol protein_coding 114807 ENSG00000163872 ENSE00000968683 missense_variant 5.916694 0.98384 0.97268 0.706548 0.998466227118097 0 0.999977828893892 TRUE NA ENSE00000968683_010 ENSE00000968683 010 3 183436244 183436413 + 44 93 33 G T 183436357 3702 114 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTTCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC 183718455 183718625 183718568 183718569 183718569 exon -24 0.752688172043011 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTTCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC mutant NA NA NA NA NA 142 42 1 1 1 0.888462171662344 0.85 0.993073677747347 0.950812864240397 NA NA 0.00692632225265344 0.0491871357596034 0.869231085831172 0.971943270993872 NA 0.0280567290061284 NA FALSE NA 1 4.485 . missense_variant MODERATE YEATS2 HGNC 25489 ENST00000305135 4/31 rs201625216 1 tolerated(0.15) benign(0.027) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TGC G 8.277e-06 3:183718569 YEATS2 HGNC Symbol protein_coding 114807 ENSG00000163872 ENSE00000968683 missense_variant 2.995332 0.98797 0.97812 0.706548 0.993790480661881 0 0.999977828893892 TRUE NA ENSE00000968683_011 ENSE00000968683 011 3 183436244 183436413 + 44 93 33 C T 183436363 3703 120 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTTTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC 183718455 183718625 183718574 183718575 183718575 exon -18 0.817204301075269 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTTTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC mutant NA NA NA NA NA 131 62 0.831516672814116 1 0.915758336407058 0.888462171662344 0.85 0.993073677747347 0.950812864240397 NA NA -0.161557004933231 0.0491871357596034 0.869231085831172 0.971943270993872 NA -0.0561849345868138 NA FALSE NA 0.991 2.908 . missense_variant MODERATE YEATS2 HGNC 25489 ENST00000305135 4/31 1 deleterious(0.03) possibly_damaging(0.733) NA TCT C 8.276e-06 3:183718575 YEATS2 HGNC Symbol protein_coding 114807 ENSG00000163872 ENSE00000968683 missense_variant 5.34684 0.98584 0.93956 0.706548 0.997693908530909 0 0.999977828893892 TRUE 4.10149e-06 ENSE00000968683_013 ENSE00000968683 013 3 183436244 183436413 + 44 93 33 A G 183436370 3705 127 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAGAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC 183718455 183718625 183718581 183718582 183718582 exon -11 0.89247311827957 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAGAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC mutant NA NA NA NA NA 91 53 0.987615875709703 0.98067666920952 0.984146272459612 0.888462171662344 0.85 0.993073677747347 0.950812864240397 NA NA -0.00545780203764323 0.0298638049691239 0.869231085831172 0.971943270993872 NA 0.0122030014657403 NA FALSE NA 1 8.876 . missense_variant MODERATE YEATS2 HGNC 25489 ENST00000305135 4/31 1 deleterious(0.03) benign(0.172) NA AAA A 8.277e-06 3:183718582 YEATS2 HGNC Symbol protein_coding 114807 ENSG00000163872 ENSE00000968683 missense_variant 3.089672 0.99018 0.99224 0.706548 0.998935393244301 0 0.999977828893892 TRUE 8.23113e-06 ENSE00000968683_014 ENSE00000968683 014 3 183436244 183436413 + 44 93 33 T G 183436373 3706 130 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGGTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC 183718455 183718625 183718584 183718585 183718585 exon -8 0.924731182795699 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGGTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC mutant NA NA NA NA NA 501 336 0.967622427958263 0.95 0.958811213979131 0.888462171662344 0.85 0.993073677747347 0.950812864240397 NA NA -0.025451249789084 -0.000812864240396616 0.869231085831172 0.971943270993872 NA -0.0131320570147403 NA FALSE NA 1 2.216 . missense_variant MODERATE YEATS2 HGNC 25489 ENST00000305135 4/31 1 tolerated(0.18) benign(0.002) NA GTT T 8.277e-06 3:183718585 YEATS2 HGNC Symbol protein_coding 114807 ENSG00000163872 ENSE00000968683 missense_variant 1.931659 0.97381 0.94065 0.706548 0.93815744186744 0 0.999977828893892 TRUE 4.14456e-06 ENSE00000968683_016 ENSE00000968683 016 3 183436244 183436413 + 44 93 33 A G 183436394 3708 151 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCGTACCCAGTCATTTTCCAGC 183718455 183718625 183718605 183718606 183718606 downstr_intron 14 1.4375 ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCGTACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC mutant NA NA NA NA NA 1974 39 0.996823924308286 0.976483212458292 0.986653568383289 0.888462171662344 0.85 0.993073677747347 0.950812864240397 NA NA 0.00375024656093925 0.0256703482178957 0.869231085831172 0.971943270993872 NA 0.0147102973894175 NA FALSE NA 0 -0.014 . intron_variant MODIFIER YEATS2 HGNC 25489 ENST00000305135 4/30 1 NA CAT A 8.281e-06 3:183718606 YEATS2 HGNC Symbol protein_coding 114807 ENSG00000163872 ENSE00000968683 intron_variant 1.246178 0.15654 0.05084 0.099367 0.68493173958725 0.131818 0.999977828893892 TRUE 4.47355e-06 ENSE00000968683_BRK ENSE00000968683 BRK 3 183436244 183436413 + 44 93 33 A,G; T,T NA NA NA ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTTTCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGCCAAGCATTCCTCATACCCAGTCATTTTCCAGC 183718455 183718625 NA NA NA NA NA NA ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTTTCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGCCAAGCATTCCTCATACCCAGTCATTTTCCAGC ATAATTGCCGTTTTTTAAAGTAATGAGTTAACATTTGTTTTTAGCGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCCTGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAGGTAAGCATTCCTCATACCCAGTCATTTTCCAGC control NA NA NA NA NA 63 243 0 0 0 0.888462171662344 0.85 0.993073677747347 0.950812864240397 NA NA -0.993073677747347 -0.950812864240397 0.869231085831172 0.971943270993872 NA -0.971943270993872 NA TRUE NA NA NA NA NA NA YEATS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YEATS2 NA NA NA ENSG00000163872 ENSE00000968683 NA NA NA NA NA NA NA 0.999977828893892 TRUE NA ENSE00000970780_000 ENSE00000970780 000 5 10423802 10423971 + 45 90 35 NA NA NA NA NA CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 NA NA NA NA NA NA GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG natural 212 289 0.747483870826462 0.901469244321808 0.824476557574135 5433 8117 0.94492163872954 0.926911345454976 0.935916492092258 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 0 0 0 0 0.824476557574135 0.935916492092258 0 0 0 FALSE FALSE NA NA NA NA NA MARCH6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARCH6 NA NA NA ENSG00000145495 ENSE00003693606 NA NA NA NA NA NA NA 0.999995976388274 TRUE NA ENSE00000970780_001 ENSE00000970780 001 5 10423802 10423971 + 45 90 35 A C 10423815 178 14 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACATATTTCGGTTGTTTTTTAAC 10423689 10423859 10423702 10423703 10423703 upstr_intron -32 -0.688888888888889 GTTAAAAAACAACCGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 366 537 0.946424043251161 0.949709819322627 0.948066931286894 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.00150240452162087 0.0227984738676513 0.824476557574135 0.935916492092258 NA 0.0121504391946361 NA FALSE NA 0.004 0.886 . intron_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 21/24 rs576303459 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CAG A,C 8.237e-06 5:10423703 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 intron_variant 1.022569 0.23572 0.10531 0.322412 0.87495302363799 0.12571 0.999995976388274 TRUE 4.23535e-06 ENSE00000970780_002 ENSE00000970780 002 5 10423802 10423971 + 45 90 35 A G 10423818 179 17 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACATATCTCTGTTGTTTTTTAAC 10423689 10423859 10423705 10423706 10423706 upstr_intron -29 -0.622222222222222 GTTAAAAAACAACAGAGATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 776 86 0.965753107349482 0.999556248293794 0.982654677821638 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.0208314686199419 0.0726449028388186 0.824476557574135 0.935916492092258 NA 0.0467381857293803 NA FALSE NA 0 -0.068 . intron_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 21/24 1 NA AAA A,G 8.237e-06 5:10423706 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 intron_variant 1.173251 0.14938 0.04414 0.322412 0.815161271692712 0.12571 0.999995976388274 TRUE 8.39673e-06 ENSE00000970780_003 ENSE00000970780 003 5 10423802 10423971 + 45 90 35 A G 10423821 180 20 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACACATTTCTGTTGTTTTTTAAC 10423689 10423859 10423708 10423709 10423709 upstr_intron -26 -0.555555555555556 GTTAAAAAACAACAGAAATGTGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 730 652 0.975099666745913 0.97511998609495 0.975109826420432 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.0301780280163733 0.0482086406399747 0.824476557574135 0.935916492092258 NA 0.039193334328174 NA FALSE NA 0 0.063 . intron_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 21/24 rs371528708 1 NA G:0.0002 G:0 TAT A,G 8.237e-06 5:10423709 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 intron_variant 0.780831 0.20512 0.04856 0.322412 0.809852138581055 0.12571 0.999995976388274 TRUE 8.35178e-06 ENSE00000970780_004 ENSE00000970780 004 5 10423802 10423971 + 45 90 35 A G 10423828 181 27 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCACTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423715 10423716 10423716 upstr_intron -19 -0.4 GTTAAAAAACAACAGAAATATGTTAAGTGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 501 941 0.820136124051993 0.916015166428275 0.868075645240134 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA -0.124785514677547 -0.0108961790267004 0.824476557574135 0.935916492092258 NA -0.0678408468521235 NA FALSE NA 0 -0.979 . intron_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 21/24 rs375025247 1 NA G:0 G:0.0002 AAT A,G 6.59e-05 5:10423716 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 intron_variant 1.15029 0.20941 0.10176 0.322412 0.791160673948545 0.12571 0.999995976388274 TRUE 7.87813e-05 ENSE00000970780_006 ENSE00000970780 006 5 10423802 10423971 + 45 90 35 T C 10423829 183 28 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCGTTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423716 10423717 10423717 upstr_intron -18 -0.377777777777778 GTTAAAAAACAACAGAAATATGTTAAACGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 111 62 0.993521700038167 0.95 0.971760850019084 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.0486000613086273 0.0230886545450244 0.824476557574135 0.935916492092258 NA 0.0358443579268258 NA FALSE NA 0.004 1.486 NA NA NA MARCH6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:10423717 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 intron_variant 1.148078 0.30588 0.04621 0.322412 0.839774842691353 0.12571 0.999995976388274 TRUE NA ENSE00000970780_007 ENSE00000970780 007 5 10423802 10423971 + 45 90 35 G T 10423830 184 29 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACAATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423717 10423718 10423718 upstr_intron -17 -0.355555555555556 GTTAAAAAACAACAGAAATATGTTAAATTGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 667 874 0.830827835363797 0.99755717370653 0.914192504535164 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA -0.114093803365743 0.0706458282515546 0.824476557574135 0.935916492092258 NA -0.0217239875570941 NA FALSE NA 0 -0.482 . intron_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 21/24 1 NA TGG G,T 8.237e-06 5:10423718 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 intron_variant 0.830734 0.2392 0.08646 0.322412 0.661510866707539 0.12571 0.999995976388274 TRUE 4.14638e-06 ENSE00000970780_008 ENSE00000970780 008 5 10423802 10423971 + 45 90 35 T C 10423836 185 35 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTGAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423723 10423724 10423724 upstr_intron -11 -0.222222222222222 GTTAAAAAACAACAGAAATATGTTAAATGGTTTTCAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 694 866 0.965972899116974 0.931598211412737 0.948785555264856 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.0210512603874342 0.00468686595776158 0.824476557574135 0.935916492092258 NA 0.0128690631725979 NA FALSE NA 0.195 1.56 . intron_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 21/24 1 NA TTA T,C 8.237e-06 5:10423724 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 intron_variant 1.178701 0.94693 0.76941 0.322412 0.846488300455801 0.933886 0.999995976388274 TRUE 4.11401e-06 ENSE00000970780_010 ENSE00000970780 010 5 10423802 10423971 + 45 90 35 T C 10423850 187 49 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCGGTCCTAGGGAATTAAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423737 10423738 10423738 exon 4 0.0444444444444444 GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACCGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 1188 68 0.817895686633489 0.970002321657447 0.893949004145468 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA -0.127025952096051 0.0430909762024714 0.824476557574135 0.935916492092258 NA -0.0419674879467897 NA FALSE NA 1 7.614 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 22/25 1 NA CTG T,C 8.236e-06 5:10423738 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 missense_variant 6.168349 0.97131 0.97458 0.732398 0.996367047994696 0 0.999995976388274 TRUE 4.071e-06 ENSE00000970780_013 ENSE00000970780 013 5 10423802 10423971 + 45 90 35 A G 10423889 190 88 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTACAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423776 10423777 10423777 exon 43 0.477777777777778 GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTGTAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 1422 633 0.977967834089766 0.999689814811536 0.988828824450651 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.0330461953602257 0.0727784693565604 0.824476557574135 0.935916492092258 NA 0.052912332358393 NA FALSE NA 1 8.885 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 22/25 1 NA TAT A,G 8.236e-06 5:10423777 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 missense_variant 1.103963 0.97291 0.97931 0.732398 0.75699110611639 0 0.999995976388274 TRUE 1.62631e-05 ENSE00000970780_014 ENSE00000970780 014 5 10423802 10423971 + 45 90 35 A G 10423891 191 90 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTCATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423778 10423779 10423779 exon 45 0.5 GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATGACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 84 884 1 0.99935161436033 0.999675807180165 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.0550783612704602 0.0724402689053545 0.824476557574135 0.935916492092258 NA 0.0637593150879073 NA FALSE NA 0.998 0.999 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 22/25 1 NA TAA A,G 8.236e-06 5:10423779 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 missense_variant 4.429691 0.92631 0.82278 0.732398 0.983049886191885 0 0.999995976388274 TRUE NA ENSE00000970780_015 ENSE00000970780 015 5 10423802 10423971 + 45 90 35 A G 10423898 192 97 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCACCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423785 10423786 10423786 exon -39 0.577777777777778 GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGGTGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 1516 535 0.800212558558415 0.801416152450871 0.800814355504643 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA -0.144709080171125 -0.125495193004105 0.824476557574135 0.935916492092258 NA -0.135102136587615 NA FALSE NA 1 8.885 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 22/25 1 NA GAT A,G 8.236e-06 5:10423786 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 missense_variant 3.897384 0.97095 0.97725 0.732398 0.982613545786553 0 0.999995976388274 TRUE NA ENSE00000970780_017 ENSE00000970780 017 5 10423802 10423971 + 45 90 35 G A 10423909 194 108 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGTTCAATTACAGTTTTCAACCACCATTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423796 10423797 10423797 exon -28 0.7 GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAATGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 1747 353 0.963880372659099 0.986600907369734 0.975240640014417 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.018958733929559 0.0596895619147587 0.824476557574135 0.935916492092258 NA 0.0393241479221589 NA FALSE NA 1 6.341 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 22/25 1 NA AGT G,A 8.236e-06 5:10423797 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 synonymous_variant 1.036431 0.97611 0.9613 0.732398 0.826442079427877 0 0.999995976388274 TRUE 4.07073e-06 ENSE00000970780_019 ENSE00000970780 019 5 10423802 10423971 + 45 90 35 A G 10423933 196 132 CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTACCTGCTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCCTAGGGAATTAAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 10423820 10423821 10423821 exon -4 0.966666666666667 GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAGCAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG mutant NA NA NA NA NA 100 323 0.950606182320418 0.956660396124633 0.953633289222526 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 NA NA 0.00568454359087822 0.0297490506696576 0.824476557574135 0.935916492092258 NA 0.0177167971302679 NA FALSE NA 1 2.386 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MARCH6 HGNC 30550 ENST00000511802 22/25 1 NA AAC A,G 8.237e-06 5:10423821 MARCH6 HGNC Symbol protein_coding 86685 ENSG00000145495 ENSE00003693606 synonymous_variant 0.873874 0.91779 0.47902 0.732398 0.698309423353148 0 0.999995976388274 TRUE 4.08247e-06 ENSE00000970780_BRK ENSE00000970780 BRK 5 10423802 10423971 + 45 90 35 A,G; T,T NA NA NA CAGAATGTCTTTCTCTGAAAACTGATTTTGCTTGGCTGTTCAATTACAGTTTTCAACCACCACTGAGGACCCATCAATGTTATAGCTGCAATGATTTTGGCATGCAGGACTCCAAGTGCCCAGTCAAAGGGAATTAAAAACCATTTAACATATTTCTGTTGTTTTTTAAC 10423689 10423859 NA NA NA NA NA NA GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTTTGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGCCAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG GTTAAAAAACAACAGAAATATGTTAAATGGTTTTTAATTCCCTAGGACTGGGCACTTGGAGTCCTGCATGCCAAAATCATTGCAGCTATAACATTGATGGGTCCTCAGTGGTGGTTGAAAACTGTAATTGAACAGGTAAGCAAAATCAGTTTTCAGAGAAAGACATTCTG control 107 64 0 0 0 402 35 0 0 0 0.747483870826462 0.901469244321808 0.94492163872954 0.926911345454976 -0.747483870826462 -0.901469244321808 -0.94492163872954 -0.926911345454976 0.824476557574135 0.935916492092258 -0.824476557574135 -0.935916492092258 0.111439934518123 TRUE TRUE NA NA NA NA NA MARCH6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARCH6 NA NA NA ENSG00000145495 ENSE00003693606 NA NA NA NA NA NA NA 0.999995976388274 TRUE NA ENSE00000971294_000 ENSE00000971294 000 5 35003838 35004007 - 30 99 41 NA NA NA NA NA GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 NA NA NA NA NA NA TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC natural 27 11 1 0.990303733274444 0.995151866637222 2833 3264 0.935212571097248 0.986905608494207 0.961059089795728 1 0.990303733274444 0.935212571097248 0.986905608494207 0 0 0 0 0.995151866637222 0.961059089795728 0 0 0 FALSE FALSE NA NA NA NA NA AGXT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AGXT2 NA NA NA ENSG00000113492 ENSE00003469036 NA NA NA NA NA NA NA 4.66554613813699e-15 FALSE NA ENSE00000971294_002 ENSE00000971294 002 5 35003838 35004007 - 30 99 41 C T 35003857 468 151 GCGATAGGTAAAAACCAGTTTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003751 35003752 35003752 downstr_intron 11 1.37931034482759 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAAACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 948 2151 0.999347012875683 0.999908763779048 0.999627888327366 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0641344417784356 0.0130031552848408 0.995151866637222 0.961059089795728 NA 0.0385687985316382 NA FALSE NA 0 -0.575 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 11/12 1 NA TCT C,T 8.236e-06 5:35003752 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 intron_variant 0.107902 0.07846 0.04994 0.095506 0.633612951930333 0.104539 4.66554613813699e-15 FALSE 4.06332e-06 ENSE00000971294_003 ENSE00000971294 003 5 35003838 35004007 - 30 99 41 T C 35003864 469 144 GCGATAGGTAAAAACCAGTCTTTCTCCTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003758 35003759 35003759 downstr_intron 4 1.13793103448276 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAGGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 914 610 0.998289785382506 0.999678110706534 0.99898394804452 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0630772142852588 0.012772502212327 0.995151866637222 0.961059089795728 NA 0.0379248582487929 NA FALSE NA 0.846 0.179 . splice_region_variant&intron_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 11/12 1 NA CTT T,C 2.471e-05 5:35003759 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 splice_region_variant 0.630164 0.12667 0.20137 0.095506 0.642191224623566 0.457298 4.66554613813699e-15 FALSE 2.84416e-05 ENSE00000971294_004 ENSE00000971294 004 5 35003838 35004007 - 30 99 41 T C 35003879 470 129 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAACGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003773 35003774 35003774 exon -12 0.888888888888889 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCGTTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 874 218 0.995724572722111 0.999122332686676 0.997423452704393 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0605120016248629 0.0122167241924681 0.995151866637222 0.961059089795728 NA 0.0363643629086655 NA FALSE NA 0.006 -0.143 . missense_variant&NMD_transcript_variant MODERATE AGXT2 HGNC 14412 ENST00000510428 11/13 1 tolerated(0.3) benign(0.006) NA ATG T,C 2.471e-05 5:35003774 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 missense_variant -0.105654 0.33179 0.25185 0.55562 0.835974091935227 0 4.66554613813699e-15 FALSE 1.21882e-05 ENSE00000971294_005 ENSE00000971294 005 5 35003838 35004007 - 30 99 41 G A 35003883 471 125 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTACCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003777 35003778 35003778 exon -16 0.848484848484849 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGTAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 156 882 0.996790685379742 0.983609529540926 0.990200107460334 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0615781142824948 -0.00329607895328177 0.995151866637222 0.961059089795728 NA 0.0291410176646065 NA FALSE NA 0.001 -2.507 . synonymous_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 11/13 1 NA TGC G,A 8.236e-06 5:35003778 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 synonymous_variant -0.083257 0.11123 0.04971 0.55562 0.790409733917496 0 4.66554613813699e-15 FALSE 4.06263e-06 ENSE00000971294_006 ENSE00000971294 006 5 35003838 35004007 - 30 99 41 G T 35003889 472 119 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTTCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003783 35003784 35003784 exon -22 0.787878787878788 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGAAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 227 616 0.958325986262291 0.99974317318607 0.97903457972418 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0231134151650434 0.0128375646918621 0.995151866637222 0.961059089795728 NA 0.0179754899284528 NA FALSE NA 0.791 0.453 . synonymous_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 11/13 rs200634664 1 NA T:0 T:0.0002 TGC G,T 0.0003953 5:35003784 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 synonymous_variant -0.196741 0.78948 0.72325 0.55562 0.621807570569811 0 4.66554613813699e-15 FALSE 0.000438771 ENSE00000971294_008 ENSE00000971294 008 5 35003838 35004007 - 30 99 41 C G 35003890 474 118 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGGCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003784 35003785 35003785 exon -23 0.777777777777778 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGCCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 852 597 0.985570571751817 0.995678615698841 0.990624593725329 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.050358000654569 0.00877300720463314 0.995151866637222 0.961059089795728 NA 0.0295655039296011 NA FALSE NA 1 6.251 NA NA NA AGXT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:35003785 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 missense_variant 3.660913 0.87809 0.92875 0.55562 0.997449430120739 0 4.66554613813699e-15 FALSE 8.12552e-06 ENSE00000971294_012 ENSE00000971294 012 5 35003838 35004007 - 30 99 41 T G 35003906 478 102 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCAGGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003800 35003801 35003801 exon -39 0.616161616161616 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACCTGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 365 1624 0.978708971465407 0.995961897464628 0.987335434465018 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0434964003681597 0.00905628897042088 0.995151866637222 0.961059089795728 NA 0.0262763446692903 NA FALSE NA 1 4.755 . missense_variant&NMD_transcript_variant MODERATE AGXT2 HGNC 14412 ENST00000510428 11/13 1 tolerated(0.79) benign(0.067) NA ATG T,G 2.471e-05 5:35003801 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 missense_variant 0.168136 0.77529 0.87093 0.65861 0.574730079987383 0 4.66554613813699e-15 FALSE 1.21875e-05 ENSE00000971294_014 ENSE00000971294 014 5 35003838 35004007 - 30 99 41 G A 35003961 480 47 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAACTTATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003855 35003856 35003856 exon 6 0.0606060606060606 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGTTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 55 744 1 1 1 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0647874289027524 0.0130943915057925 0.995151866637222 0.961059089795728 NA 0.0389409102042724 NA FALSE NA 0.978 0.726 . synonymous_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 11/13 1 NA AGC G,A 8.236e-06 5:35003856 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 synonymous_variant 0.359502 0.87498 0.62996 0.65861 0.55633467896827 0 4.66554613813699e-15 FALSE NA ENSE00000971294_015 ENSE00000971294 015 5 35003838 35004007 - 30 99 41 T C 35003964 481 44 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTCATCTGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003858 35003859 35003859 exon 3 0.0303030303030303 TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATGAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 685 429 0.984530950977176 1 0.992265475488588 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0493183798799288 0.0130943915057925 0.995151866637222 0.961059089795728 NA 0.0312063856928607 NA FALSE NA 0 -0.466 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE AGXT2 HGNC 14412 ENST00000510428 11/13 1 tolerated(0.11) benign(0.012) NA TTA T,C 8.237e-06 5:35003859 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 missense_variant -0.604252 0.16673 0.02084 0.65861 0.433448960664689 0 4.66554613813699e-15 FALSE 8.13306e-06 ENSE00000971294_016 ENSE00000971294 016 5 35003838 35004007 - 30 99 41 T C 35003974 482 34 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAACATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003868 35003869 35003869 upstr_intron -8 -0.170731707317073 TCCAACACCAAATAGAAAGAATTTTAAAAATATGTTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 1935 276 0.997439614813454 1 0.998719807406727 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.062227043716206 0.0130943915057925 0.995151866637222 0.961059089795728 NA 0.0376607176109993 NA FALSE NA 0.015 0.062 . splice_region_variant&intron_variant&NMD_transcript_variant LOW AGXT2 HGNC 14412 ENST00000510428 10/12 1 NA ATA T,C 2.471e-05 5:35003869 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 splice_region_variant 0.096021 0.20232 0.05012 0.095506 0.617132907897253 0.218999 4.66554613813699e-15 FALSE 1.62784e-05 ENSE00000971294_017 ENSE00000971294 017 5 35003838 35004007 - 30 99 41 A T 35003975 483 33 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATTTATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003869 35003870 35003870 upstr_intron -9 -0.195121951219512 TCCAACACCAAATAGAAAGAATTTTAAAAATAAATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 7437 727 0.999416669482921 0.999564669414342 0.999490669448632 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0642040983856731 0.0126590609201348 0.995151866637222 0.961059089795728 NA 0.0384315796529039 NA FALSE NA 0.001 0.415 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 10/12 1 NA TAT A,T 2.471e-05 5:35003870 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 intron_variant -0.029982 0.19453 0.06505 0.095506 0.750951828467997 0.227401 4.66554613813699e-15 FALSE 1.2213e-05 ENSE00000971294_018 ENSE00000971294 018 5 35003838 35004007 - 30 99 41 T C 35003976 484 32 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATACATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003870 35003871 35003871 upstr_intron -10 -0.219512195121951 TCCAACACCAAATAGAAAGAATTTTAAAAATGTATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 707 253 0.995805503954143 0.998940044018653 0.997372773986398 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0605929328568952 0.0120344355244454 0.995151866637222 0.961059089795728 NA 0.0363136841906703 NA FALSE NA 0 -3.813 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 10/12 1 NA ATA T,C 8.237e-06 5:35003871 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 intron_variant 0.124579 0.09824 0.02404 0.095506 0.442192262602137 0.216575 4.66554613813699e-15 FALSE 4.07106e-06 ENSE00000971294_020 ENSE00000971294 020 5 35003838 35004007 - 30 99 41 T G 35003978 486 30 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATAGTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003872 35003873 35003873 upstr_intron -12 -0.268292682926829 TCCAACACCAAATAGAAAGAATTTTAAAACTATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 1037 632 0.953471313903017 0.992916729102799 0.973194021502908 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0182587428057698 0.0060111206085911 0.995151866637222 0.961059089795728 NA 0.0121349317071804 NA FALSE NA 0.113 1.495 rs191787842 intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 10/12 rs191787842 1 G:0.0032 G:0.0113 G:0.0014 NA G:0 G:0 G:0 G:0.0041 G:0 ATT T,G 0.0005766 5:35003873 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 intron_variant 0.252071 0.33146 0.47527 0.095506 0.677156174077801 0.213181 4.66554613813699e-15 FALSE 0.00045623 ENSE00000971294_021 ENSE00000971294 021 5 35003838 35004007 - 30 99 41 T A 35003982 487 26 GCGATAGGTAAAAACCAGTCTTTCTCTTACCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATCTGTAAATATATTTTAAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 35003876 35003877 35003877 upstr_intron -16 -0.365853658536585 TCCAACACCAAATAGAAAGAATTTTTAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC mutant NA NA NA NA NA 614 867 0.999125400710636 0.999250279754385 0.999187840232511 1 0.990303733274444 0.935212571097248 0.986905608494207 NA NA 0.0639128296133887 0.012344671260177 0.995151866637222 0.961059089795728 NA 0.0381287504367829 NA FALSE NA 0 -1.099 . intron_variant&NMD_transcript_variant MODIFIER AGXT2 HGNC 14412 ENST00000510428 10/12 rs562151695 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 TTA T,A 0.0005026 5:35003877 AGXT2 HGNC Symbol protein_coding 50034 ENSG00000113492 ENSE00003469036 intron_variant 0.04893 0.08336 0.00644 0.095506 0.687040848904109 0.11299 4.66554613813699e-15 FALSE 0.000456751 ENSE00000971294_BRK ENSE00000971294 BRK 5 35003838 35004007 - 30 99 41 A,G; T,T NA NA NA GCGATAGGTAAAAACCAGTCTTTCTCTTGGCTGAGAAAAAATGCTGCCTCTGCCAACGAGGAGTCCCATGTGCTTGCAGTCCTCATGGATCTGATTTACTTCTTCACGGGGAAGAGGCCGACAGCTTATAAGTAAATATATTTTTAAAATTCTTTCTATTTGGTGTTGGA 35003732 35003902 NA NA NA NA NA NA TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACTTATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGCCAAGAGAAAGACTGGTTTTTACCTATCGC TCCAACACCAAATAGAAAGAATTTTAAAAATATATTTACAGATAAGCTGTCGGCCTCTTCCCCGTGAAGAAGTAAATCAGATCCATGAGGACTGCAAGCACATGGGACTCCTCGTTGGCAGAGGCAGCATTTTTTCTCAGGTAAGAGAAAGACTGGTTTTTACCTATCGC control 69 20 0 0 0 NA NA NA NA NA 1 0.990303733274444 0.935212571097248 0.986905608494207 -1 -0.990303733274444 NA NA 0.995151866637222 0.961059089795728 -0.995151866637222 NA NA NA TRUE NA NA NA NA NA AGXT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AGXT2 NA NA NA ENSG00000113492 ENSE00003469036 NA NA NA NA NA NA NA 4.66554613813699e-15 FALSE NA ENSE00000971855_000 ENSE00000971855 000 5 96440862 96441031 - 32 96 42 NA NA NA NA NA GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 NA NA NA NA NA NA GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT natural 50 41 0.979948063105303 0.989998985617226 0.984973524361265 1909 2071 0.931129100342463 0.944457200182053 0.937793150262258 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 0 0 0 0 0.984973524361265 0.937793150262258 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIX1 NA NA NA ENSG00000145721 ENSE00000971855 NA NA NA NA NA NA NA 0.0166746879363502 FALSE NA ENSE00000971855_BRK ENSE00000971855 BRK 5 96440862 96441031 - 32 96 42 A,G; T,T NA NA NA GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCATTGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGCCACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 NA NA NA NA NA NA GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCATTGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGCCACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT control 409 141 0 0.169185843008338 0.084592921504169 55 219 0.159911453448441 0.283049758712698 0.22148060608057 0.979948063105303 0.989998985617226 0.931129100342463 0.944457200182053 -0.979948063105303 -0.820813142608888 -0.771217646894021 -0.661407441469355 0.984973524361265 0.937793150262258 -0.900380602857096 -0.716312544181688 0.184068058675408 TRUE TRUE NA NA NA NA NA CTD-2215E18.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIX1 NA NA NA ENSG00000145721 ENSE00000971855 NA NA NA NA NA NA NA 0.0166746879363502 FALSE NA ENSE00000972915_000 ENSE00000972915 000 5 150439838 150440007 - 41 78 51 NA NA NA NA NA AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 NA NA NA NA NA NA AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT natural NA NA NA NA NA 868 910 0.938344657486522 0.997050358774123 0.967697508130322 NA NA 0.938344657486522 0.997050358774123 NA NA 0 0 NA 0.967697508130322 NA 0 NA FALSE NA NA NA NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP1 NA NA NA ENSG00000145901 ENSE00000972915 NA NA NA NA NA NA NA 0.929689199234392 TRUE NA ENSE00000972915_002 ENSE00000972915 002 5 150439838 150440007 - 41 78 51 A T 150439852 1882 156 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCATGACCTGCTGCCCT 151060276 151060446 151060290 151060291 151060291 downstr_intron 27 1.675 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCATGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 997 111 0.999669313862133 0.857801201867145 0.928735257864639 NA NA 0.938344657486522 0.997050358774123 NA NA 0.0613246563756112 -0.139249156906977 NA 0.967697508130322 NA -0.0389622502656831 NA FALSE NA 0 -0.981 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 4/7 1 NA AAG A,T 8.236e-06 5:151060291 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 intron_variant 0.109043 0.17585 0.00161 0.279481 0.721907421097186 0.079528 0.929689199234392 TRUE 2.44266e-05 ENSE00000972915_003 ENSE00000972915 003 5 150439838 150440007 - 41 78 51 C T 150439854 1883 154 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGACTTGACCTGCTGCCCT 151060276 151060446 151060292 151060293 151060293 downstr_intron 25 1.625 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGACTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 71 268 1 1 1 NA NA 0.938344657486522 0.997050358774123 NA NA 0.061655342513478 0.00294964122587749 NA 0.967697508130322 NA 0.0323024918696778 NA FALSE NA 0 -0.058 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 4/7 1 NA GCC C,T 8.236e-06 5:151060293 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 intron_variant 0.074599 0.2145 0.01253 0.279481 0.612593349647688 0.079528 0.929689199234392 TRUE 8.14107e-06 ENSE00000972915_004 ENSE00000972915 004 5 150439838 150440007 - 41 78 51 C T 150439856 1884 152 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCAGGCTTGACCTGCTGCCCT 151060276 151060446 151060294 151060295 151060295 downstr_intron 23 1.575 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCAGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 36 35 1 1 1 NA NA 0.938344657486522 0.997050358774123 NA NA 0.061655342513478 0.00294964122587749 NA 0.967697508130322 NA 0.0323024918696778 NA FALSE NA 0 -0.496 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 4/7 1 NA CCG C,T 2.471e-05 5:151060295 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 intron_variant 0.571586 0.20178 0.00624 0.279481 0.503492136566213 0.079528 0.929689199234392 TRUE NA ENSE00000972915_006 ENSE00000972915 006 5 150439838 150440007 - 41 78 51 C T 150439868 1886 140 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACAGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060306 151060307 151060307 downstr_intron 11 1.275 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACAGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 539 16 0.996214051734896 1 0.998107025867448 NA NA 0.938344657486522 0.997050358774123 NA NA 0.0578693942483737 0.00294964122587749 NA 0.967697508130322 NA 0.0304095177371256 NA FALSE NA 0.003 0.085 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 4/7 rs530709201 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 CCG C,T 0.0004118 5:151060307 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 intron_variant 0.701958 0.17189 0.00285 0.279481 0.770311170032164 0.202032 0.929689199234392 TRUE 0.000361847 ENSE00000972915_010 ENSE00000972915 010 5 150439838 150440007 - 41 78 51 G A 150439883 1890 125 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGTGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060321 151060322 151060322 exon -5 0.948717948717949 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGTGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 252 58 0.996331063267118 0.993843518607911 0.995087290937515 NA NA 0.938344657486522 0.997050358774123 NA NA 0.0579864057805958 -0.0032068401662112 NA 0.967697508130322 NA 0.0273897828071923 NA FALSE NA 0 -0.441 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 4/8 1 tolerated(0.24) benign(0.031) NA CGC G,A 1.647e-05 5:151060322 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 missense_variant -0.693089 0.15675 0.002 0.736574 0.64580384971442 0 0.929689199234392 TRUE 1.62522e-05 ENSE00000972915_011 ENSE00000972915 011 5 150439838 150440007 - 41 78 51 T G 150439887 1891 121 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCCATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060325 151060326 151060326 exon -9 0.897435897435897 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCCATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 159 958 1 0.998029393806146 0.999014696903073 NA NA 0.938344657486522 0.997050358774123 NA NA 0.061655342513478 0.000979035032023789 NA 0.967697508130322 NA 0.0313171887727509 NA FALSE NA 0.474 2.04 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 4/8 1 tolerated(0.13) possibly_damaging(0.632) NA TTG T,G 8.236e-06 5:151060326 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 missense_variant 1.076509 0.22503 0.04133 0.736574 0.938528829940019 0 0.929689199234392 TRUE 4.06207e-06 ENSE00000972915_012 ENSE00000972915 012 5 150439838 150440007 - 41 78 51 C A 150439890 1892 118 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATTCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060328 151060329 151060329 exon -12 0.858974358974359 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATTCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 823 75 0.999949985298504 1 0.999974992649252 NA NA 0.938344657486522 0.997050358774123 NA NA 0.0616053278119824 0.00294964122587749 NA 0.967697508130322 NA 0.0322774845189299 NA FALSE NA 0 -2.74 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 4/8 1 tolerated(0.8) benign(0.075) NA GCA C,A 8.236e-06 5:151060329 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 missense_variant -1.926182 0.14282 0.00215 0.736574 0.674866748472985 0 0.929689199234392 TRUE 4.0621e-06 ENSE00000972915_013 ENSE00000972915 013 5 150439838 150440007 - 41 78 51 G A 150439894 1893 114 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGTCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060332 151060333 151060333 exon -16 0.807692307692308 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGTCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 52 36 1 1 1 NA NA 0.938344657486522 0.997050358774123 NA NA 0.061655342513478 0.00294964122587749 NA 0.967697508130322 NA 0.0323024918696778 NA FALSE NA 0.007 0.993 rs146918184 synonymous_variant LOW TNIP1 HGNC 16903 ENST00000522100 4/8 rs146918184 1 NA A:0.0002 A:0 GGC G,A 1.647e-05 5:151060333 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 synonymous_variant 0.172064 0.25907 0.00778 0.736574 0.703943921312737 0 0.929689199234392 TRUE 8.124e-06 ENSE00000972915_014 ENSE00000972915 014 5 150439838 150440007 - 41 78 51 C T 150439918 1894 90 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAACAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060356 151060357 151060357 exon 39 0.5 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAACAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 96 524 0.988765350878494 1 0.994382675439247 NA NA 0.938344657486522 0.997050358774123 NA NA 0.0504206933919724 0.00294964122587749 NA 0.967697508130322 NA 0.026685167308925 NA FALSE NA 0.211 -0.726 . synonymous_variant LOW TNIP1 HGNC 16903 ENST00000522100 4/8 1 NA GCT C,T 8.236e-06 5:151060357 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 synonymous_variant 1.178738 0.86175 0.00646 0.736574 0.764922089881716 0 0.929689199234392 TRUE 4.06138e-06 ENSE00000972915_015 ENSE00000972915 015 5 150439838 150440007 - 41 78 51 C G 150439921 1895 87 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGACGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060359 151060360 151060360 exon 36 0.461538461538462 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGACGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 302 950 1 0.998951595752244 0.999475797876122 NA NA 0.938344657486522 0.997050358774123 NA NA 0.061655342513478 0.00190123697812172 NA 0.967697508130322 NA 0.0317782897457999 NA FALSE NA 0.283 -0.865 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 4/8 rs200236985 1 tolerated(0.09) benign(0.011) NA G:0 G:0.0002 CCT C,G 0.00014 5:151060360 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 missense_variant 1.72976 0.86949 0.01727 0.736574 0.990366831877882 0 0.929689199234392 TRUE 0.000170574 ENSE00000972915_018 ENSE00000972915 018 5 150439838 150440007 - 41 78 51 C T 150439935 1898 73 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAATGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060373 151060374 151060374 exon 22 0.282051282051282 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAATGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 110 10 1 1 1 NA NA 0.938344657486522 0.997050358774123 NA NA 0.061655342513478 0.00294964122587749 NA 0.967697508130322 NA 0.0323024918696778 NA FALSE NA 1 1.351 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 4/8 1 deleterious(0) probably_damaging(0.999) NA ACT C,T 8.236e-06 5:151060374 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 missense_variant 6.449498 0.90451 0.04076 0.736574 0.998836368523813 0 0.929689199234392 TRUE NA ENSE00000972915_021 ENSE00000972915 021 5 150439838 150440007 - 41 78 51 C T 150439955 1901 53 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGACACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060393 151060394 151060394 exon 2 0.0256410256410256 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGACACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 544 303 1 1 1 NA NA 0.938344657486522 0.997050358774123 NA NA 0.061655342513478 0.00294964122587749 NA 0.967697508130322 NA 0.0323024918696778 NA FALSE NA 1 1.586 . missense_variant&splice_region_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 4/8 1 tolerated(0.08) possibly_damaging(0.506) NA GCC C,T 8.236e-06 5:151060394 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 missense_variant 4.869437 0.90719 0.12383 0.736574 0.998085083556547 0 0.929689199234392 TRUE 4.06194e-06 ENSE00000972915_022 ENSE00000972915 022 5 150439838 150440007 - 41 78 51 T C 150439974 1902 34 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTGACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060412 151060413 151060413 upstr_intron -18 -0.333333333333333 AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTGACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 89 210 0.997664807456554 0.998536909210625 0.99810085833359 NA NA 0.938344657486522 0.997050358774123 NA NA 0.0593201499700324 0.00148655043650248 NA 0.967697508130322 NA 0.0304033502032675 NA FALSE NA 0 -1.076 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 3/7 1 NA TTA T,C 2.471e-05 5:151060413 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 intron_variant 1.158255 0.13692 0.00125 0.101703 0.745719120614787 0.440124 0.929689199234392 TRUE 1.62533e-05 ENSE00000972915_025 ENSE00000972915 025 5 150439838 150440007 - 41 78 51 C A 150439985 1905 23 AGGGGTGAGCTGTTTTTCTCTCTGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060423 151060424 151060424 upstr_intron -29 -0.549019607843137 AGGGGTGAGCTGTTTTTCTCTCTGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 655 214 0.948335239657391 1 0.974167619828695 NA NA 0.938344657486522 0.997050358774123 NA NA 0.00999058217086912 0.00294964122587749 NA 0.967697508130322 NA 0.0064701116983733 NA FALSE NA 0 -1.138 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151060424 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 intron_variant 0.268133 0.18446 0.00243 0.101703 0.539459896594156 0.126387 0.929689199234392 TRUE 8.14286e-06 ENSE00000972915_027 ENSE00000972915 027 5 150439838 150440007 - 41 78 51 G C 150439986 1907 22 AGGGGTGAGCTGTTTTTCTCTGGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT 151060276 151060446 151060424 151060425 151060425 upstr_intron -30 -0.568627450980392 AGGGGTGAGCTGTTTTTCTCTGGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT AGGGGTGAGCTGTTTTTCTCTCGGGCAGCACCTAACTTCCTTTCTGCACAGGGCACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGCCATGCCAATGCGATGGTGAGTGGACGGGCAGGACCCCGGGCTTGACCTGCTGCCCT mutant NA NA NA NA NA 161 340 1 0.995629942819484 0.997814971409742 NA NA 0.938344657486522 0.997050358774123 NA NA 0.061655342513478 -0.00142041595463815 NA 0.967697508130322 NA 0.0301174632794199 NA FALSE NA 0 -0.527 NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151060425 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972915 intron_variant 0.074983 0.17342 0.00254 0.101703 0.506573912383964 0.180442 0.929689199234392 TRUE 4.07349e-06 ENSE00000972919_000 ENSE00000972919 000 5 150425387 150425556 - 35 90 45 NA NA NA NA NA TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 NA NA NA NA NA NA TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC natural NA NA NA NA NA 39 89 0.82759009542735 0.899857158198494 0.863723626812922 NA NA 0.82759009542735 0.899857158198494 NA NA 0 0 NA 0.863723626812922 NA 0 NA FALSE NA NA NA NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP1 NA NA NA ENSG00000145901 ENSE00000972919 NA NA NA NA NA NA NA 0.929689199234392 TRUE NA ENSE00000972919_006 ENSE00000972919 006 5 150425387 150425556 - 35 90 45 T C 150425419 1857 138 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTGGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045857 151045858 151045858 downstr_intron 3 1.08823529411765 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTGGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 73 41 0 0.00904846754852918 0.00452423377426459 NA NA 0.82759009542735 0.899857158198494 NA NA -0.82759009542735 -0.890808690649965 NA 0.863723626812922 NA -0.859199393038658 NA TRUE NA 0.959 0.425 rs111501914 downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 rs111501914 1 NA CTA T,C 8.236e-06 5:151045858 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 splice_region_variant 1.598205 0.62959 0.49421 0.256867 0.87416206301085 0.328254 0.929689199234392 TRUE 4.06418e-06 ENSE00000972919_007 ENSE00000972919 007 5 150425387 150425556 - 35 90 45 G A 150425430 1858 127 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGTGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045868 151045869 151045869 exon -9 0.911111111111111 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGTGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 12 310 0.8 0.8 0.8 NA NA 0.82759009542735 0.899857158198494 NA NA -0.02759009542735 -0.0998571581984942 NA 0.863723626812922 NA -0.0637236268129221 NA FALSE NA 1 3.263 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 rs376603482 1 deleterious(0) probably_damaging(0.999) NA A:0 A:0.0001 CGC G,A 8.236e-06 5:151045869 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 7.578674 0.96185 0.92502 0.706298 0.999123217568909 0 0.929689199234392 TRUE 1.21899e-05 ENSE00000972919_009 ENSE00000972919 009 5 150425387 150425556 - 35 90 45 C T 150425443 1860 114 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATACTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045881 151045882 151045882 exon -22 0.766666666666667 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATACTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 139 1091 0.836472551799328 0.940981138838595 0.888726845318961 NA NA 0.82759009542735 0.899857158198494 NA NA 0.00888245637197804 0.0411239806401006 NA 0.863723626812922 NA 0.0250032185060393 NA FALSE NA 1 0.663 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 COSM3827441&COSM3827442 1 tolerated(1) benign(0.042) NA GCA C,T 8.236e-06 5:151045882 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 1.757263 0.95655 0.8364 0.706298 0.621540382228029 0 0.929689199234392 TRUE NA ENSE00000972919_010 ENSE00000972919 010 5 150425387 150425556 - 35 90 45 T C 150425445 1861 112 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGGTGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045883 151045884 151045884 exon -24 0.744444444444444 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGGTGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 151 83 0.983350423453261 0.8 0.89167521172663 NA NA 0.82759009542735 0.899857158198494 NA NA 0.155760328025911 -0.0998571581984942 NA 0.863723626812922 NA 0.0279515849137084 NA FALSE NA 1 1.167 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 1 tolerated(0.15) benign(0.002) NA ATC T,C 8.236e-06 5:151045884 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 0.798829 0.96156 0.8798 0.706298 0.945771123754775 0 0.929689199234392 TRUE NA ENSE00000972919_011 ENSE00000972919 011 5 150425387 150425556 - 35 90 45 T G 150425453 1862 104 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGACGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045891 151045892 151045892 exon -32 0.655555555555556 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGACGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 123 69 0.879509494902061 0.947742746940298 0.91362612092118 NA NA 0.82759009542735 0.899857158198494 NA NA 0.0519193994747114 0.0478855887418038 NA 0.863723626812922 NA 0.0499024941082576 NA FALSE NA 1 5.127 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 1 deleterious(0) probably_damaging(0.998) NA CTT T,G 8.236e-06 5:151045892 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 6.276799 0.97909 0.97282 0.706298 0.997855821710303 0 0.929689199234392 TRUE 4.06223e-06 ENSE00000972919_014 ENSE00000972919 014 5 150425387 150425556 - 35 90 45 G A 150425461 1865 96 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCTGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045899 151045900 151045900 exon -40 0.566666666666667 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCTGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 502 19 1 0.8 0.9 NA NA 0.82759009542735 0.899857158198494 NA NA 0.17240990457265 -0.0998571581984942 NA 0.863723626812922 NA 0.0362763731870779 NA FALSE NA 0.018 -0.196 NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151045900 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 synonymous_variant 1.906287 0.46212 0.00676 0.706298 0.671443703195245 0 0.929689199234392 TRUE 2.03122e-05 ENSE00000972919_015 ENSE00000972919 015 5 150425387 150425556 - 35 90 45 C T 150425466 1866 91 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCACAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045904 151045905 151045905 exon -45 0.511111111111111 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCACAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 34 105 0.804728944584635 0.8 0.802364472292318 NA NA 0.82759009542735 0.899857158198494 NA NA -0.0228611508427151 -0.0998571581984942 NA 0.863723626812922 NA -0.0613591545206046 NA FALSE NA 0 -0.438 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 rs370805593 1 tolerated(0.36) benign(0.034) NA T:0 T:0.0001 GCG C,T 0.0001153 5:151045905 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 2.518473 0.24209 0.05614 0.706298 0.935447872815596 0 0.929689199234392 TRUE 0.000105618 ENSE00000972919_019 ENSE00000972919 019 5 150425387 150425556 - 35 90 45 C T 150425478 1870 79 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGATGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045916 151045917 151045917 exon 34 0.377777777777778 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGATGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 865 131 1 0.825517074087464 0.912758537043732 NA NA 0.82759009542735 0.899857158198494 NA NA 0.17240990457265 -0.0743400841110305 NA 0.863723626812922 NA 0.0490349102308097 NA FALSE NA 0.001 0.91 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 1 tolerated(0.13) benign(0.013) NA ACC C,T 8.236e-06 5:151045917 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 1.86341 0.2042 0.09964 0.706298 0.992176873918003 0 0.929689199234392 TRUE 8.12414e-06 ENSE00000972919_021 ENSE00000972919 021 5 150425387 150425556 - 35 90 45 T G 150425485 1872 72 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCCGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045923 151045924 151045924 exon 27 0.3 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCCGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 38 44 0.966069278658926 0.8 0.883034639329463 NA NA 0.82759009542735 0.899857158198494 NA NA 0.138479183231576 -0.0998571581984942 NA 0.863723626812922 NA 0.0193110125165411 NA FALSE NA 0.083 -1.204 . synonymous_variant LOW TNIP1 HGNC 16903 ENST00000522100 8/8 1 NA CTG T,G 8.236e-06 5:151045924 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 synonymous_variant 0.258878 0.1294 0.0482 0.706298 0.397489522469536 0 0.929689199234392 TRUE NA ENSE00000972919_022 ENSE00000972919 022 5 150425387 150425556 - 35 90 45 A C 150425489 1873 68 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGGCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045927 151045928 151045928 exon 23 0.255555555555556 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGGCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 53 317 0.829982906059409 0.800797195485836 0.815390050772623 NA NA 0.82759009542735 0.899857158198494 NA NA 0.00239281063205932 -0.099059962712658 NA 0.863723626812922 NA -0.0483335760402994 NA FALSE NA 0 -0.299 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 1 tolerated(0.36) benign(0) NA GAC A,C 2.471e-05 5:151045928 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant -0.641813 0.14742 0.06043 0.706298 0.907692599901438 0 0.929689199234392 TRUE NA ENSE00000972919_023 ENSE00000972919 023 5 150425387 150425556 - 35 90 45 C G 150425496 1874 61 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCACGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045934 151045935 151045935 exon 16 0.177777777777778 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCACGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 794 155 0.997125806163074 0.986120347796059 0.991623076979566 NA NA 0.82759009542735 0.899857158198494 NA NA 0.169535710735724 0.0862631895975644 NA 0.863723626812922 NA 0.127899450166644 NA FALSE NA 0.009 0.882 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 1 tolerated(0.43) possibly_damaging(0.706) NA CCT C,G 8.236e-06 5:151045935 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 2.647755 0.17093 0.2225 0.706298 0.926738730134279 0 0.929689199234392 TRUE 4.06253e-06 ENSE00000972919_025 ENSE00000972919 025 5 150425387 150425556 - 35 90 45 G A 150425501 1876 56 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGATGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045939 151045940 151045940 exon 11 0.122222222222222 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGATGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 60 58 1 0.962807959453233 0.981403979726617 NA NA 0.82759009542735 0.899857158198494 NA NA 0.17240990457265 0.062950801254739 NA 0.863723626812922 NA 0.117680352913694 NA FALSE NA 0 0.583 rs185683917 missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 rs185683917 1 tolerated(0.39) benign(0.03) A:0.0012 A:0 A:0 NA A:0.006 A:0 A:0 CGT G,A 0.0003706 5:151045940 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 1.03313 0.148 0.0517 0.706298 0.961485727107373 0 0.929689199234392 TRUE 0.000373817 ENSE00000972919_027 ENSE00000972919 027 5 150425387 150425556 - 35 90 45 C T 150425507 1878 50 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAATGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045945 151045946 151045946 exon 5 0.0555555555555556 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAATGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 27 26 0.95 0.990705345664531 0.970352672832266 NA NA 0.82759009542735 0.899857158198494 NA NA 0.12240990457265 0.0908481874660372 NA 0.863723626812922 NA 0.106629046019344 NA FALSE NA 0.003 1.789 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000522100 8/8 1 deleterious(0.02) benign(0.208) NA ACT C,T 8.236e-06 5:151045946 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 missense_variant 1.562499 0.22334 0.20136 0.706298 0.967442192296683 0 0.929689199234392 TRUE 8.12665e-06 ENSE00000972919_028 ENSE00000972919 028 5 150425387 150425556 - 35 90 45 G A 150425514 1879 43 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCTAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC 151045825 151045995 151045952 151045953 151045953 upstr_intron -3 -0.0444444444444444 TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCTAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC TTTGTATTGAGGTTTTGGTGAAGGCTCCTCTGTGCTTCTCCCCAGGCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAGAAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAGGTAGGTGGCCGAGGTGGCAGTAGTGGGAGGATCCC mutant NA NA NA NA NA 121 331 0.923804207020256 0.949529244726879 0.936666725873567 NA NA 0.82759009542735 0.899857158198494 NA NA 0.0962141115929057 0.049672086528385 NA 0.863723626812922 NA 0.0729430990606453 NA FALSE NA 0.63 0.461 . splice_region_variant&intron_variant LOW TNIP1 HGNC 16903 ENST00000522100 7/7 1 NA TGG G,A 8.236e-06 5:151045953 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972919 splice_region_variant 1.595965 0.95427 0.72655 0.256867 0.803391267615038 0.295603 0.929689199234392 TRUE 4.06468e-06 ENSE00000972920_000 ENSE00000972920 000 5 150422410 150422579 - 47 66 57 NA NA NA NA NA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 NA NA NA NA NA NA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA natural NA NA NA NA NA 675 2106 0.933611628533373 0.970002222212992 0.951806925373182 NA NA 0.933611628533373 0.970002222212992 NA NA 0 0 NA 0.951806925373182 NA 0 NA FALSE NA NA NA NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP1 NA NA NA ENSG00000145901 ENSE00000972920 NA NA NA NA NA NA NA 0.929689199234392 TRUE NA ENSE00000972920_001 ENSE00000972920 001 5 150422410 150422579 - 47 66 57 G A 150422420 1828 160 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGTCTGGTCTTCA 151042848 151043018 151042858 151042859 151042859 downstr_intron 37 1.80434782608696 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGTCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 390 13 0.994380324361181 1 0.99719016218059 NA NA 0.933611628533373 0.970002222212992 NA NA 0.060768695827808 0.0299977777870083 NA 0.951806925373182 NA 0.0453832368074081 NA FALSE NA 0 0.387 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA GGC G,A 8.236e-06 5:151042859 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.110411 0.13461 0.01392 0.283894 0.557395863935145 0.176818 0.929689199234392 TRUE 8.13517e-06 ENSE00000972920_002 ENSE00000972920 002 5 150422410 150422579 - 47 66 57 C T 150422426 1829 154 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGAGCATGCCTGGTCTTCA 151042848 151043018 151042864 151042865 151042865 downstr_intron 31 1.67391304347826 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGAGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 512 181 0.999919594772503 0.996563309516438 0.99824145214447 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0663079662391298 0.0265610873034468 NA 0.951806925373182 NA 0.0464345267712883 NA FALSE NA 0 -0.035 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA CCC C,T 8.236e-06 5:151042865 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.232656 0.17434 0.10411 0.283894 0.601912396149214 0.119381 0.929689199234392 TRUE 4.06521e-06 ENSE00000972920_003 ENSE00000972920 003 5 150422410 150422579 - 47 66 57 C T 150422427 1830 153 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAAGGCATGCCTGGTCTTCA 151042848 151043018 151042865 151042866 151042866 downstr_intron 30 1.65217391304348 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAAGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 230 109 0.989137559286786 0.998546277446158 0.993841918366472 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0555259307534136 0.0285440552331664 NA 0.951806925373182 NA 0.04203499299329 NA FALSE NA 0 0.626 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA CCT C,T 4.942e-05 5:151042866 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.515802 0.39308 0.30348 0.283894 0.528925981783324 0.925468 0.929689199234392 TRUE 2.8453e-05 ENSE00000972920_004 ENSE00000972920 004 5 150422410 150422579 - 47 66 57 G A 150422429 1831 151 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCATAGGGCATGCCTGGTCTTCA 151042848 151043018 151042867 151042868 151042868 downstr_intron 28 1.60869565217391 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCATAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 627 198 0.988713497148189 0.959501468047439 0.974107482597814 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0551018686148164 -0.0105007541655523 NA 0.951806925373182 NA 0.022300557224632 NA FALSE NA 0 -1.47 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 rs377370167 1 NA A:0.0002 A:0 TGT G,A 1.647e-05 5:151042868 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.208054 0.17181 0.0572 0.283894 0.609079578461687 0.119381 0.929689199234392 TRUE 4.06418e-06 ENSE00000972920_005 ENSE00000972920 005 5 150422410 150422579 - 47 66 57 G A 150422432 1832 148 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCTCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042870 151042871 151042871 downstr_intron 25 1.54347826086957 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCTCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 458 199 0.998553390187336 1 0.999276695093668 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0649417616539634 0.0299977777870083 NA 0.951806925373182 NA 0.0474697697204858 NA FALSE NA 0 -0.108 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA GGG G,A 8.236e-06 5:151042871 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.166657 0.08365 0.01511 0.283894 0.653010702503156 0.119381 0.929689199234392 TRUE NA ENSE00000972920_007 ENSE00000972920 007 5 150422410 150422579 - 47 66 57 G A 150422435 1834 145 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCATGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042873 151042874 151042874 downstr_intron 22 1.47826086956522 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCATGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 48 49 0.990170483536004 0.99348922832707 0.991829855931537 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0565588550026312 0.0234870061140783 NA 0.951806925373182 NA 0.0400229305583548 NA FALSE NA 0 -0.616 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 rs575589988 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGT G,A 1.647e-05 5:151042874 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant -0.509866 0.04155 0.00199 0.283894 0.593124451109492 0.119381 0.929689199234392 TRUE 2.03176e-05 ENSE00000972920_009 ENSE00000972920 009 5 150422410 150422579 - 47 66 57 G T 150422443 1836 137 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTACTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042881 151042882 151042882 downstr_intron 14 1.30434782608696 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTACTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 541 1208 0.960957363233373 0.993131854721587 0.97704460897748 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0273457347 0.0231296325085949 NA 0.951806925373182 NA 0.0252376836042975 NA FALSE NA 0.001 0.625 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA GGA G,T 8.236e-06 5:151042882 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant -0.129583 0.23874 0.13034 0.283894 0.451358664745144 0.133872 0.929689199234392 TRUE 1.21877e-05 ENSE00000972920_011 ENSE00000972920 011 5 150422410 150422579 - 47 66 57 T C 150422480 1838 100 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCGTGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042918 151042919 151042919 exon -24 0.651515151515151 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCGTGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 2697 112 0.826622935021502 0.979610377016061 0.903116656018781 NA NA 0.933611628533373 0.970002222212992 NA NA -0.106988693511871 0.0096081548030692 NA 0.951806925373182 NA -0.0486902693544009 NA FALSE NA 1 7.761 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA ATG T,C 8.236e-06 5:151042919 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 missense_variant 5.330122 0.99153 0.9892 0.706548 0.99575447421024 0 0.929689199234392 TRUE 8.12229e-06 ENSE00000972920_013 ENSE00000972920 013 5 150422410 150422579 - 47 66 57 C T 150422502 1840 78 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAATGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042940 151042941 151042941 exon 21 0.318181818181818 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAATGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 94 1719 0.964703260636954 0.998254249681042 0.981478755158998 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0310916321035809 0.0282520274680504 NA 0.951806925373182 NA 0.0296718297858157 NA FALSE NA 0.982 0.25 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA ACT C,T 8.236e-06 5:151042941 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 synonymous_variant 1.654135 0.96664 0.77889 0.706548 0.672015367616451 0 0.929689199234392 TRUE 4.06131e-06 ENSE00000972920_014 ENSE00000972920 014 5 150422410 150422579 - 47 66 57 G A 150422508 1841 72 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAATAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042946 151042947 151042947 exon 15 0.227272727272727 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAATAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 401 866 0.95344189190241 0.938716126594361 0.946079009248386 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0198302633690377 -0.0312860956186306 NA 0.951806925373182 NA -0.00572791612479645 NA FALSE NA 1 2.139 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA TGT G,A 8.236e-06 5:151042947 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 synonymous_variant 0.997692 0.98568 0.94273 0.706548 0.76668718051908 0 0.929689199234392 TRUE 8.12348e-06 ENSE00000972920_015 ENSE00000972920 015 5 150422410 150422579 - 47 66 57 G T 150422527 1842 53 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCAACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042965 151042966 151042966 upstr_intron -5 -0.0701754385964912 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCAACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 34 389 1 0.950558443077406 0.975279221538703 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0663883714666272 -0.0194437791355853 NA 0.951806925373182 NA 0.023472296165521 NA FALSE NA 0 0.015 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 rs373469122 1 NA T:0.0002 T:0 TGG G,T 3.295e-05 5:151042966 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 splice_region_variant 0.136448 0.25845 0.34642 0.160901 0.589266713824336 0.36099 0.929689199234392 TRUE 2.03143e-05 ENSE00000972920_018 ENSE00000972920 018 5 150422410 150422579 - 47 66 57 G A 150422539 1845 41 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTTCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042977 151042978 151042978 upstr_intron -17 -0.280701754385965 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTTCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 270 173 0.945406775450825 0.911377788797 0.928392282123913 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0117951469174524 -0.0586244334159913 NA 0.951806925373182 NA -0.0234146432492695 NA FALSE NA 0.291 1.563 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151042978 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.357874 0.7356 0.58357 0.160901 0.461237740882581 0.671898 0.929689199234392 TRUE 4.06488e-06 ENSE00000972920_019 ENSE00000972920 019 5 150422410 150422579 - 47 66 57 G C 150422539 1846 41 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTGCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042977 151042978 151042978 upstr_intron -17 -0.280701754385965 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTGCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 1742 590 0.958872458204245 0.937093815386094 0.94798313679517 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0252608296708727 -0.0329084068268972 NA 0.951806925373182 NA -0.00382378857801224 NA FALSE NA 0.291 1.563 NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP1 NA NA NA ENSG00000145901 ENSE00000972920 intron_variant 0.049083 0.75631 0.74226 0.160901 0.477193861843726 0.671898 0.929689199234392 TRUE 4.06488e-06 ENSE00000972920_020 ENSE00000972920 020 5 150422410 150422579 - 47 66 57 C G 150422546 1847 34 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTCCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042984 151042985 151042985 upstr_intron -24 -0.403508771929825 TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTCCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 106 254 0.98672574840206 0.967148741541845 0.976937244971952 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0531141198686869 -0.00285348067114677 NA 0.951806925373182 NA 0.02513031959877 NA FALSE NA 0 0.082 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA GCA C,G 1.647e-05 5:151042985 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.038714 0.22548 0.05624 0.115753 0.616170781833886 0.109871 0.929689199234392 TRUE 4.06696e-06 ENSE00000972920_021 ENSE00000972920 021 5 150422410 150422579 - 47 66 57 G C 150422554 1848 26 TGGCTCTCCTTGTTCCTTCTCTGCTGATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042992 151042993 151042993 upstr_intron -32 -0.543859649122807 TGGCTCTCCTTGTTCCTTCTCTGCTGATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 131 119 0.990506429621383 0.998384769988935 0.994445599805159 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0568948010880104 0.0283825477759435 NA 0.951806925373182 NA 0.0426386744319769 NA FALSE NA 0 0.198 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA TGA G,C 8.236e-06 5:151042993 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant -0.195966 0.28411 0.11329 0.115753 0.424827115087138 0.109871 0.929689199234392 TRUE 4.06994e-06 ENSE00000972920_022 ENSE00000972920 022 5 150422410 150422579 - 47 66 57 G A 150422559 1849 21 TGGCTCTCCTTGTTCCTTCTTTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151042997 151042998 151042998 upstr_intron -37 -0.631578947368421 TGGCTCTCCTTGTTCCTTCTTTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 69 200 1 1 1 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0663883714666272 0.0299977777870083 NA 0.951806925373182 NA 0.0481930746268178 NA FALSE NA 0 0.245 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA AGA G,A 1.647e-05 5:151042998 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.000677 0.25408 0.03056 0.115753 0.428945750900699 0.109871 0.929689199234392 TRUE 8.14339e-06 ENSE00000972920_023 ENSE00000972920 023 5 150422410 150422579 - 47 66 57 G A 150422565 1850 15 TGGCTCTCCTTGTTTCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151043003 151043004 151043004 upstr_intron -43 -0.736842105263158 TGGCTCTCCTTGTTTCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 195 717 0.998299316495744 0.997120239722644 0.997709778109194 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0646876879623717 0.0271180175096524 NA 0.951806925373182 NA 0.045902852736012 NA FALSE NA 0.282 0.379 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA GGA G,A 2.471e-05 5:151043004 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.312747 0.21813 0.14415 0.115753 0.694030950275402 0.0546611 0.929689199234392 TRUE 2.03877e-05 ENSE00000972920_024 ENSE00000972920 024 5 150422410 150422579 - 47 66 57 C T 150422568 1851 12 TGGCTCTCCTTATTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 151043006 151043007 151043007 upstr_intron -46 -0.789473684210526 TGGCTCTCCTTATTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA mutant NA NA NA NA NA 194 25 0.977742038645159 0.96223550196753 0.969988770306345 NA NA 0.933611628533373 0.970002222212992 NA NA 0.0441304101117865 -0.00776672024546188 NA 0.951806925373182 NA 0.0181818449331623 NA FALSE NA 0.115 0.054 . downstream_gene_variant MODIFIER TNIP1 HGNC 16903 ENST00000522100 1 NA ACA C,T 8.236e-06 5:151043007 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00000972920 intron_variant 0.06265 0.28538 0.09028 0.115753 0.443299613259816 0.0546611 0.929689199234392 TRUE 1.22396e-05 ENSE00000972920_BRK ENSE00000972920 BRK 5 150422410 150422579 - 47 66 57 A,G; T,T NA NA NA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACTTCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGCCAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA 151042848 151043018 NA NA NA NA NA NA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACTTCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGCCAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA TGGCTCTCCTTGTTCCTTCTCTGCTCATCTCCTGCTAACTCCAGTCTCTCCCCACAGCTGCTGGAAGTGAACAAGCAGTGGGACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAGGTAATGTGGGGTTCCTGGCCACGCCCACAGGGCATGCCTGGTCTTCA control 27 13 0 0 0 1008 783 0.0100197373730048 0 0.00500986868650238 NA NA 0.933611628533373 0.970002222212992 NA NA -0.923591891160368 -0.970002222212992 NA 0.951806925373182 NA -0.94679705668668 NA TRUE NA NA NA NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP1 NA NA NA ENSG00000145901 ENSE00000972920 NA NA NA NA NA NA NA 0.929689199234392 TRUE NA ENSE00000973296_000 ENSE00000973296 000 6 2124864 2125033 - 57 45 68 NA NA NA NA NA TCTTCATCTAGACCACCTTTCTATACCACTATGAGACTGACGTTTTGCAATTTTTTCTTTCTCCCCAGGATGGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAGGTGGGTGACTCAATGGGAAGCGGGCGCAGGCTGGTGGGGTTGCTCGCATGCAGCGGC 2124629 2124799 NA NA NA NA NA NA TCTTCATCTAGACCACCTTTCTATACCACTATGAGACTGACGTTTTGCAATTTTTTCTTTCTCCCCAGGATGGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAGGTGGGTGACTCAATGGGAAGCGGGCGCAGGCTGGTGGGGTTGCTCGCATGCAGCGGC TCTTCATCTAGACCACCTTTCTATACCACTATGAGACTGACGTTTTGCAATTTTTTCTTTCTCCCCAGGATGGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAGGTGGGTGACTCAATGGGAAGCGGGCGCAGGCTGGTGGGGTTGCTCGCATGCAGCGGC natural 16 23 1 0.993434329650695 0.996717164825347 150 57 1 0.990070179289002 0.995035089644501 1 0.993434329650695 1 0.990070179289002 0 0 0 0 0.996717164825347 0.995035089644501 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00000973296 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00000973446_000 ENSE00000973446 000 5 139213242 139213411 + 45 90 35 NA NA NA NA NA CAGCTAGTGGGATGGGGACACTCAGCAGACAGTACCTTCAGCAGGTCTTTGGCAAAGTCTTGGCCATCATTCAGCTGGTCCAAGTTGGCAATGAATTGCTGACAGGACATCTTTTTGCCAATGTTCTGTAATGGAGAAATGGTTCTGCCTAAGAGTAGGGAAGGAGGCTG 139833656 139833826 NA NA NA NA NA NA CAGCCTCCTTCCCTACTCTTAGGCAGAACCATTTCTCCATTACAGAACATTGGCAAAAAGATGTCCTGTCAGCAATTCATTGCCAACTTGGACCAGCTGAATGATGGCCAAGACTTTGCCAAAGACCTGCTGAAGGTACTGTCTGCTGAGTGTCCCCATCCCACTAGCTG CAGCCTCCTTCCCTACTCTTAGGCAGAACCATTTCTCCATTACAGAACATTGGCAAAAAGATGTCCTGTCAGCAATTCATTGCCAACTTGGACCAGCTGAATGATGGCCAAGACTTTGCCAAAGACCTGCTGAAGGTACTGTCTGCTGAGTGTCCCCATCCCACTAGCTG natural 1179 1918 0.802559472982261 0.727422579302137 0.764991026142199 1258 1018 0.682281046151675 0.690583257419898 0.686432151785786 0.802559472982261 0.727422579302137 0.682281046151675 0.690583257419898 0 0 0 0 0.764991026142199 0.686432151785786 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00000973446 NA NA NA NA NA NA NA NA NA NA ENSE00000976189_000 ENSE00000976189 000 7 2773031 2773200 - 54 51 65 NA NA NA NA NA TTGTATTTGCCACATCAGGATTCCTCAGTCCAGACTGAGCTGTGAATATTCTTCCTTCCTGACAGGGGGAGTCGGTGAAGTACTTCCTGGACAACTTGGACCGGATCGGCCAGCTGGTGAGTAAGCACGCCCGCCCGAAGAAGCTGGGCTCCAGGGTTAGAAAACGTGTC 2733396 2733566 NA NA NA NA NA NA TTGTATTTGCCACATCAGGATTCCTCAGTCCAGACTGAGCTGTGAATATTCTTCCTTCCTGACAGGGGGAGTCGGTGAAGTACTTCCTGGACAACTTGGACCGGATCGGCCAGCTGGTGAGTAAGCACGCCCGCCCGAAGAAGCTGGGCTCCAGGGTTAGAAAACGTGTC TTGTATTTGCCACATCAGGATTCCTCAGTCCAGACTGAGCTGTGAATATTCTTCCTTCCTGACAGGGGGAGTCGGTGAAGTACTTCCTGGACAACTTGGACCGGATCGGCCAGCTGGTGAGTAAGCACGCCCGCCCGAAGAAGCTGGGCTCCAGGGTTAGAAAACGTGTC natural NA NA NA NA NA 3913 1163 0.897881854079003 0.956640475504174 0.927261164791588 NA NA 0.897881854079003 0.956640475504174 NA NA 0 0 NA 0.927261164791588 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003627659 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000978542_000 ENSE00000978542 000 X 64958343 64958512 + 44 93 33 NA NA NA NA NA CTTCAATGCTTTGCTTTAGGCCCTGTGTCTTACCTTCTGCTGCCACTCCACAGCCTCACTCTCCTTCTTCTGTCGGGCCATCTCCAGCTGGGAGATTCGAGCTGTCAGCTCTGCCATTTCCAAGGCCTACGGATAAATTGGAAGCCTGTGAGAGCTGGGCCTTCTGGTCC 65738480 65738650 NA NA NA NA NA NA GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG natural 24 19 0.851487438556203 0.968950989550195 0.910219214053199 351 405 1 0.996469102425582 0.998234551212791 0.851487438556203 0.968950989550195 1 0.996469102425582 0 0 0 0 0.910219214053199 0.998234551212791 0 0 0 FALSE FALSE NA NA NA NA NA MSN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSN NA NA NA ENSG00000147065 ENSE00003577013 NA NA NA NA NA NA NA 0.993557145802077 TRUE NA ENSE00000978542_001 ENSE00000978542 001 X 64958343 64958512 + 44 93 33 C T 64958355 581 13 CTTCAATGCTTTGCTTTAGGCCCTGTGTCTTACCTTCTGCTGCCACTCCACAGCCTCACTCTCCTTCTTCTGTCGGGCCATCTCCAGCTGGGAGATTCGAGCTGTCAGCTCTGCCATTTCCAAGGCCTACGGATAAATTGGAAGCCTGTGAGAGCTGAGCCTTCTGGTCC 65738480 65738650 65738492 65738493 65738493 upstr_intron -32 -0.704545454545455 GGACCAGAAGGCTCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG mutant NA NA NA NA NA 76 275 1 1 1 0.851487438556203 0.968950989550195 1 0.996469102425582 NA NA 0 0.00353089757441771 0.910219214053199 0.998234551212791 NA 0.00176544878720886 NA FALSE NA 0 -0.618 . intron_variant MODIFIER MSN HGNC 7373 ENST00000360270 10/12 1 NA CCC C 1.672e-05 X:65738493 MSN HGNC Symbol protein_coding 153554 ENSG00000147065 ENSE00003577013 intron_variant 0.365588 0.18073 0.0406 0 0.739362186171019 0.0715842 0.993557145802077 TRUE NA ENSE00000978542_002 ENSE00000978542 002 X 64958343 64958512 + 44 93 33 C T 64958356 582 14 CTTCAATGCTTTGCTTTAGGCCCTGTGTCTTACCTTCTGCTGCCACTCCACAGCCTCACTCTCCTTCTTCTGTCGGGCCATCTCCAGCTGGGAGATTCGAGCTGTCAGCTCTGCCATTTCCAAGGCCTACGGATAAATTGGAAGCCTGTGAGAGCTAGGCCTTCTGGTCC 65738480 65738650 65738493 65738494 65738494 upstr_intron -31 -0.681818181818182 GGACCAGAAGGCCTAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG mutant NA NA NA NA NA 53 13 1 1 1 0.851487438556203 0.968950989550195 1 0.996469102425582 NA NA 0 0.00353089757441771 0.910219214053199 0.998234551212791 NA 0.00176544878720886 NA FALSE NA 0 -0.31 . intron_variant MODIFIER MSN HGNC 7373 ENST00000360270 10/12 1 NA CCA C 8.354e-06 X:65738494 MSN HGNC Symbol protein_coding 153554 ENSG00000147065 ENSE00003577013 intron_variant 0.430211 0.16081 0.10871 0 0.76795656315642 0.0715842 0.993557145802077 TRUE NA ENSE00000978542_006 ENSE00000978542 006 X 64958343 64958512 + 44 93 33 T C 64958397 586 55 CTTCAATGCTTTGCTTTAGGCCCTGTGTCTTACCTTCTGCTGCCACTCCACAGCCTCACTCTCCTTCTTCTGTCGGGCCATCTCCAGCTGGGAGATTCGAGCTGTCAGCTCTGCCGTTTCCAAGGCCTACGGATAAATTGGAAGCCTGTGAGAGCTGGGCCTTCTGGTCC 65738480 65738650 65738534 65738535 65738535 exon 11 0.118279569892473 GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAACGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG mutant NA NA NA NA NA 62 903 0.949415639466455 0.993781885813502 0.971598762639979 0.851487438556203 0.968950989550195 1 0.996469102425582 NA NA -0.0505843605335448 -0.00268721661207982 0.910219214053199 0.998234551212791 NA -0.0266357885728123 NA FALSE NA 1 7.781 . missense_variant MODERATE MSN HGNC 7373 ENST00000360270 11/13 1 tolerated(0.13) benign(0.004) NA ATG T 8.246e-06 X:65738535 MSN HGNC Symbol protein_coding 153554 ENSG00000147065 ENSE00003577013 missense_variant 1.647405 0.95686 0.96493 0 0.901043713851089 0 0.993557145802077 TRUE 6.067e-06 ENSE00000978542_011 ENSE00000978542 011 X 64958343 64958512 + 44 93 33 G A 64958499 591 157 CTTCAATGCTTTGTTTTAGGCCCTGTGTCTTACCTTCTGCTGCCACTCCACAGCCTCACTCTCCTTCTTCTGTCGGGCCATCTCCAGCTGGGAGATTCGAGCTGTCAGCTCTGCCATTTCCAAGGCCTACGGATAAATTGGAAGCCTGTGAGAGCTGGGCCTTCTGGTCC 65738480 65738650 65738636 65738637 65738637 downstr_intron 20 1.625 GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAACAAAGCATTGAAG GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG mutant NA NA NA NA NA 565 100 0.998386456048946 1 0.999193228024473 0.851487438556203 0.968950989550195 1 0.996469102425582 NA NA -0.00161354395105406 0.00353089757441771 0.910219214053199 0.998234551212791 NA 0.000958676811681825 NA FALSE NA 0 -0.483 . intron_variant MODIFIER MSN HGNC 7373 ENST00000360270 11/12 1 NA AGC G 8.277e-06 X:65738637 MSN HGNC Symbol protein_coding 153554 ENSG00000147065 ENSE00003577013 intron_variant -0.171415 0.16591 0.0609 0 0.233536903480582 0.072408 0.993557145802077 TRUE NA ENSE00000978542_BRK ENSE00000978542 BRK X 64958343 64958512 + 44 93 33 A,G; T,T NA NA NA CTTCAATGCTTTGCTTTAGGCCCTGTGTCTTGGCTTCTGCTGCCACTCCACAGCCTCACTCTCCTTCTTCTGTCGGGCCATCTCCAGCTGGGAGATTCGAGCTGTCAGCTCTGCCATTTCCAAGGCAAACGGATAAATTGGAAGCCTGTGAGAGCTGGGCCTTCTGGTCC 65738480 65738650 NA NA NA NA NA NA GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTTTGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGCCAAGACACAGGGCCTAAAGCAAAGCATTGAAG GGACCAGAAGGCCCAGCTCTCACAGGCTTCCAATTTATCCGTAGGCCTTGGAAATGGCAGAGCTGACAGCTCGAATCTCCCAGCTGGAGATGGCCCGACAGAAGAAGGAGAGTGAGGCTGTGGAGTGGCAGCAGAAGGTAAGACACAGGGCCTAAAGCAAAGCATTGAAG control 13 56 0 0 0 NA NA NA NA NA 0.851487438556203 0.968950989550195 1 0.996469102425582 -0.851487438556203 -0.968950989550195 NA NA 0.910219214053199 0.998234551212791 -0.910219214053199 NA NA NA TRUE NA NA NA NA NA MSN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSN NA NA NA ENSG00000147065 ENSE00003577013 NA NA NA NA NA NA NA 0.993557145802077 TRUE NA ENSE00000979338_000 ENSE00000979338 000 X 117733057 117733226 + 45 90 35 NA NA NA NA NA GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 NA NA NA NA NA NA GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT natural 72 60 0.981600086368981 0.990205760833932 0.985902923601456 9211 5033 0.9559430271921 0.986027641000589 0.970985334096344 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 0 0 0 0 0.985902923601456 0.970985334096344 0 0 0 FALSE FALSE NA NA NA NA NA DOCK11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK11 NA NA NA ENSG00000147251 ENSE00000979338 NA NA NA NA NA NA NA 0.998084519073803 TRUE NA ENSE00000979338_001 ENSE00000979338 001 X 117733057 117733226 + 45 90 35 T C 117733078 957 22 GATAATGAATCAAATTTCATACGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599114 118599115 118599115 upstr_intron -24 -0.511111111111111 GATAATGAATCAAATTTCATACGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 276 1578 1 0.919866203841604 0.959933101920802 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0440569728079004 -0.0661614371589845 0.985902923601456 0.970985334096344 NA -0.011052232175542 NA FALSE NA 0.66 0.341 . intron_variant MODIFIER DOCK11 HGNC 23483 ENST00000276204 22/52 1 NA ATG T,C 1.647e-05 X:118599115 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 intron_variant 2.01717 0.4537 0.18212 0 0.854480994961951 0.371216 0.998084519073803 TRUE 5.77491e-06 ENSE00000979338_002 ENSE00000979338 002 X 117733057 117733226 + 45 90 35 G A 117733079 958 23 GATAATGAATCAAATTTCATATAGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599115 118599116 118599116 upstr_intron -23 -0.488888888888889 GATAATGAATCAAATTTCATATAGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 1337 1799 0.953610884068738 0.998073083192713 0.975841983630725 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA -0.00233214312336183 0.0120454421921246 0.985902923601456 0.970985334096344 NA 0.00485664953438136 NA FALSE NA 0.685 2.851 . intron_variant MODIFIER DOCK11 HGNC 23483 ENST00000276204 22/52 1 NA TGG G,A 4.942e-05 X:118599116 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 intron_variant 2.403429 0.67085 0.76715 0 0.728807503730643 0.968343 0.998084519073803 TRUE 3.4504e-05 ENSE00000979338_003 ENSE00000979338 003 X 117733057 117733226 + 45 90 35 T A 117733084 959 28 GATAATGAATCAAATTTCATATGGCTGATTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599120 118599121 118599121 upstr_intron -18 -0.377777777777778 GATAATGAATCAAATTTCATATGGCTGATTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 788 1041 0.997408789194473 0.994121513369151 0.995765151281812 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0414657620023737 0.00809387236856263 0.985902923601456 0.970985334096344 NA 0.0247798171854682 NA FALSE NA 0.006 0.821 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:118599121 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 intron_variant 1.780214 0.25126 0.1911 0 0.790786496073978 0.412798 0.998084519073803 TRUE 0.000275605 ENSE00000979338_004 ENSE00000979338 004 X 117733057 117733226 + 45 90 35 T C 117733084 960 28 GATAATGAATCAAATTTCATATGGCTGCTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599120 118599121 118599121 upstr_intron -18 -0.377777777777778 GATAATGAATCAAATTTCATATGGCTGCTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 833 1836 0.989598908452639 0.997976320392662 0.993787614422651 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0336558812605396 0.0119486793920738 0.985902923601456 0.970985334096344 NA 0.0228022803263067 NA FALSE NA 0.006 0.821 NA NA NA DOCK11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK11 NA NA NA ENSG00000147251 ENSE00000979338 intron_variant 1.425083 0.23742 0.12126 0 0.81437056325583 0.412798 0.998084519073803 TRUE 5.74178e-06 ENSE00000979338_005 ENSE00000979338 005 X 117733057 117733226 + 45 90 35 A C 117733109 961 53 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCCTGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599145 118599146 118599146 exon 8 0.0888888888888889 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCCTGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 1041 2158 0.841562994207217 0.98953893574662 0.915550964976918 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA -0.114380032984883 0.00351129474603096 0.985902923601456 0.970985334096344 NA -0.0554343691194258 NA FALSE NA 1 8.636 . missense_variant MODERATE DOCK11 HGNC 23483 ENST00000276204 23/53 1 deleterious(0) possibly_damaging(0.756) NA CAT A,C 0.0001153 X:118599146 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 missense_variant 5.581704 0.99523 0.997 0 0.988808908718152 0 0.998084519073803 TRUE 9.60007e-05 ENSE00000979338_006 ENSE00000979338 006 X 117733057 117733226 + 45 90 35 T C 117733110 962 54 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCACGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599146 118599147 118599147 exon 9 0.1 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCACGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 400 1812 0.973571805421597 0.929297295720744 0.95143455057117 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.017628778229497 -0.0567303452798446 0.985902923601456 0.970985334096344 NA -0.0195507835251738 NA FALSE NA 1 0.594 . synonymous_variant LOW DOCK11 HGNC 23483 ENST00000276204 23/53 1 NA ATG T,C 1.647e-05 X:118599147 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 synonymous_variant -0.243854 0.96999 0.68305 0 0.583546049090649 0 0.998084519073803 TRUE 1.12948e-05 ENSE00000979338_007 ENSE00000979338 007 X 117733057 117733226 + 45 90 35 G A 117733113 963 57 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTACACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599149 118599150 118599150 exon 12 0.133333333333333 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTACACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 869 613 0.996734510941826 0.999251508534853 0.99799300973834 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0407914837497267 0.0132238675342642 0.985902923601456 0.970985334096344 NA 0.0270076756419955 NA FALSE NA 1 1.304 rs150574810 synonymous_variant LOW DOCK11 HGNC 23483 ENST00000276204 23/53 rs150574810 1 A:0 A:0 NA A:0 A:0.001 A:0.0031 A:0.0008 A:0.0015 TGC G,A 0.001952 X:118599150 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 synonymous_variant 0.743323 0.97819 0.93013 0 0.737195276324587 0 0.998084519073803 TRUE 0.00163788 ENSE00000979338_008 ENSE00000979338 008 X 117733057 117733226 + 45 90 35 A G 117733115 964 59 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCGCAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599151 118599152 118599152 exon 14 0.155555555555556 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCGCAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 610 969 0.995644172761133 0.998892680876248 0.99726842681869 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0397011455690337 0.0128650398756589 0.985902923601456 0.970985334096344 NA 0.0262830927223463 NA FALSE NA 1 8.636 . missense_variant MODERATE DOCK11 HGNC 23483 ENST00000276204 23/53 1 deleterious(0.01) benign(0.113) NA CAC A,G 8.237e-06 X:118599152 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 missense_variant 3.248776 0.995 0.99669 0 0.997496803083536 0 0.998084519073803 TRUE 5.64331e-06 ENSE00000979338_009 ENSE00000979338 009 X 117733057 117733226 + 45 90 35 C T 117733122 965 66 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTTTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599158 118599159 118599159 exon 21 0.233333333333333 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTTTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 463 828 0.995006429137525 1 0.997503214568763 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0390634019454258 0.0139723589994113 0.985902923601456 0.970985334096344 NA 0.0265178804724185 NA FALSE NA 1 4.415 . synonymous_variant LOW DOCK11 HGNC 23483 ENST00000276204 23/53 1 NA TCT C,T 1.647e-05 X:118599159 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 synonymous_variant 1.470418 0.99146 0.97973 0 0.784331575300221 0 0.998084519073803 TRUE NA ENSE00000979338_010 ENSE00000979338 010 X 117733057 117733226 + 45 90 35 T A 117733128 966 72 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCAACATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599164 118599165 118599165 exon 27 0.3 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCAACATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 1662 537 0.998073783395682 0.999073344591218 0.99857356399345 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0421307562035826 0.013045703590629 0.985902923601456 0.970985334096344 NA 0.0275882298971058 NA FALSE NA 0.96 -0.111 . missense_variant MODERATE DOCK11 HGNC 23483 ENST00000276204 23/53 1 tolerated(1) benign(0) NA ATC T,A 1.647e-05 X:118599165 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 missense_variant 0.402449 0.97568 0.83674 0 0.589020355774171 0 0.998084519073803 TRUE 5.62417e-06 ENSE00000979338_011 ENSE00000979338 011 X 117733057 117733226 + 45 90 35 C T 117733129 967 73 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATTATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599165 118599166 118599166 exon 28 0.311111111111111 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATTATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 1640 1292 0.99741883320786 0.986139572803511 0.991779203005685 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0414758060157601 0.000111931802921905 0.985902923601456 0.970985334096344 NA 0.020793868909341 NA FALSE NA 0.999 2.201 . missense_variant MODERATE DOCK11 HGNC 23483 ENST00000276204 23/53 1 tolerated(0.35) benign(0.001) NA TCA C,T 8.237e-06 X:118599166 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 missense_variant 2.325249 0.98712 0.91093 0 0.972520310691489 0 0.998084519073803 TRUE 5.62446e-06 ENSE00000979338_012 ENSE00000979338 012 X 117733057 117733226 + 45 90 35 G A 117733140 968 84 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTAATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599176 118599177 118599177 exon 39 0.433333333333333 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTAATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 470 262 0.961267118366775 0.976344072549981 0.968805595458378 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.00532409117467525 -0.00968356845060758 0.985902923601456 0.970985334096344 NA -0.00217973863796617 NA FALSE NA 1 2.348 . synonymous_variant LOW DOCK11 HGNC 23483 ENST00000276204 23/53 1 NA TGA G,A 8.237e-06 X:118599177 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 synonymous_variant 0.57441 0.9804 0.93954 0 0.679456333259462 0 0.998084519073803 TRUE NA ENSE00000979338_013 ENSE00000979338 013 X 117733057 117733226 + 45 90 35 C T 117733152 969 96 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGTTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599188 118599189 118599189 exon -40 0.566666666666667 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGTTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 1124 795 0.939822627177234 0.998532445853814 0.969177536515524 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA -0.0161204000148653 0.0125048048532252 0.985902923601456 0.970985334096344 NA -0.00180779758082 NA FALSE NA 0.837 0.052 . synonymous_variant LOW DOCK11 HGNC 23483 ENST00000276204 23/53 1 NA GCT C,T 8.237e-06 X:118599189 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 synonymous_variant 1.399617 0.73744 0.70709 0 0.578269689373843 0 0.998084519073803 TRUE 5.62882e-06 ENSE00000979338_014 ENSE00000979338 014 X 117733057 117733226 + 45 90 35 C T 117733154 970 98 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTTGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599190 118599191 118599191 exon -38 0.588888888888889 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTTGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 1040 925 0.997188459052297 0.999628856511105 0.998408657781701 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0412454318601975 0.0136012155105163 0.985902923601456 0.970985334096344 NA 0.0274233236853569 NA FALSE NA 0.989 5.488 rs139561772 missense_variant MODERATE DOCK11 HGNC 23483 ENST00000276204 23/53 rs139561772 1 tolerated(1) benign(0.021) T:0 T:0 NA T:0 T:0.003 T:0.002 T:0.001 T:0.0043 TCG C,T 0.002084 X:118599191 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 missense_variant 2.888857 0.92423 0.97795 0 0.841209136122307 0 0.998084519073803 TRUE 0.00180752 ENSE00000979338_015 ENSE00000979338 015 X 117733057 117733226 + 45 90 35 G A 117733155 971 99 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCAAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599191 118599192 118599192 exon -37 0.6 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCAAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 950 2763 0.997806493781735 0.997053775124349 0.997430134453042 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0418634665896354 0.0110261341237599 0.985902923601456 0.970985334096344 NA 0.0264448003566976 NA FALSE NA 0 -5.252 . synonymous_variant LOW DOCK11 HGNC 23483 ENST00000276204 23/53 COSM173936 1 NA CGA G,A 1.647e-05 X:118599192 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 synonymous_variant 1.127949 0.04917 0.01175 0 0.677137261910841 0 0.998084519073803 TRUE 5.63295e-06 ENSE00000979338_016 ENSE00000979338 016 X 117733057 117733226 + 45 90 35 C T 117733166 972 110 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCTAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599202 118599203 118599203 exon -26 0.722222222222222 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCTAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 131 1252 1 0.994647970061823 0.997323985030911 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0440569728079004 0.00862032906123422 0.985902923601456 0.970985334096344 NA 0.0263386509345673 NA FALSE NA 1 4.406 . missense_variant MODERATE DOCK11 HGNC 23483 ENST00000276204 23/53 1 deleterious(0) benign(0.382) NA CCA C,T 8.237e-06 X:118599203 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 missense_variant 6.149529 0.99099 0.97494 0 0.997164941614247 0 0.998084519073803 TRUE NA ENSE00000979338_017 ENSE00000979338 017 X 117733057 117733226 + 45 90 35 A G 117733172 973 116 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGGGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599208 118599209 118599209 exon -20 0.788888888888889 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGGGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 730 691 0.995805513963763 0.999771057188316 0.99778828557604 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0398624867716635 0.0137434161877273 0.985902923601456 0.970985334096344 NA 0.0268029514796954 NA FALSE NA 1 6.853 . missense_variant MODERATE DOCK11 HGNC 23483 ENST00000276204 23/53 1 tolerated(0.06) possibly_damaging(0.559) NA GAG A,G 8.237e-05 X:118599209 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 missense_variant 6.34322 0.98877 0.99097 0 0.997702986281709 0 0.998084519073803 TRUE 9.16506e-05 ENSE00000979338_020 ENSE00000979338 020 X 117733057 117733226 + 45 90 35 C T 117733176 976 120 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTTATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599212 118599213 118599213 exon -16 0.833333333333333 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTTATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 137 1526 1 0.999298638878411 0.999649319439205 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0440569728079004 0.0132709978778219 0.985902923601456 0.970985334096344 NA 0.0286639853428612 NA FALSE NA 0.999 0.505 NA NA NA DOCK11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:118599213 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 synonymous_variant 1.279918 0.97673 0.48811 0 0.738249275846118 0 0.998084519073803 TRUE 1.13959e-05 ENSE00000979338_021 ENSE00000979338 021 X 117733057 117733226 + 45 90 35 G A 117733192 977 136 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGATAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599228 118599229 118599229 downstr_intron 1 1.02941176470588 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGATAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 2392 718 0.0472550020187706 0.00839849077716785 0.0278267463979692 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA -0.908688025173329 -0.977629150223421 0.985902923601456 0.970985334096344 NA -0.943158587698375 NA TRUE NA 1 9.13 . splice_donor_variant HIGH DOCK11 HGNC 23483 ENST00000276204 23/52 1 NA HC GGT G,A 8.238e-06 X:118599229 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 splice_donor_variant 5.652585 0.99536 0.99781 0 0.995615753240815 0.986356 0.998084519073803 TRUE 5.81747e-06 ENSE00000979338_023 ENSE00000979338 023 X 117733057 117733226 + 45 90 35 T C 117733197 979 141 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAACGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599233 118599234 118599234 downstr_intron 6 1.17647058823529 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAACGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 819 1027 1 0.993946140478798 0.996973070239399 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0440569728079004 0.00791849947820966 0.985902923601456 0.970985334096344 NA 0.0259877361430551 NA FALSE NA 0.998 0.642 . splice_region_variant&intron_variant LOW DOCK11 HGNC 23483 ENST00000276204 23/52 1 NA ATG T,C 1.648e-05 X:118599234 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 splice_region_variant 1.29453 0.96956 0.7654 0 0.824519826613375 0.53805 0.998084519073803 TRUE 1.17689e-05 ENSE00000979338_024 ENSE00000979338 024 X 117733057 117733226 + 45 90 35 A G 117733200 980 144 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAGCAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599236 118599237 118599237 downstr_intron 9 1.26470588235294 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAGCAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 463 863 0.993032096707871 0.999234322737165 0.996133209722518 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0370890695157714 0.0132066817365759 0.985902923601456 0.970985334096344 NA 0.0251478756261737 NA FALSE NA 0.545 1.055 . intron_variant MODIFIER DOCK11 HGNC 23483 ENST00000276204 23/52 1 NA AAC A,G 1.648e-05 X:118599237 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 intron_variant 2.469385 0.97773 0.57103 0 0.782231028120289 0.531174 0.998084519073803 TRUE 5.96164e-06 ENSE00000979338_025 ENSE00000979338 025 X 117733057 117733226 + 45 90 35 C T 117733201 981 145 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAATAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 118599237 118599238 118599238 downstr_intron 10 1.29411764705882 GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAATAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT mutant NA NA NA NA NA 686 727 0.999716461789951 0.999369343182387 0.999542902486169 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 NA NA 0.0437734345978515 0.0133417021817986 0.985902923601456 0.970985334096344 NA 0.0285575683898251 NA FALSE NA 0.027 0.389 . intron_variant MODIFIER DOCK11 HGNC 23483 ENST00000276204 23/52 1 NA ACA C,T 8.239e-06 X:118599238 DOCK11 HGNC Symbol protein_coding 190265 ENSG00000147251 ENSE00000979338 intron_variant 2.542136 0.98525 0.28456 0 0.780968973888994 0.862532 0.998084519073803 TRUE 6.01139e-06 ENSE00000979338_BRK ENSE00000979338 BRK X 117733057 117733226 + 45 90 35 A,G; T,T NA NA NA GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCTTGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGCCAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT 118599093 118599263 NA NA NA NA NA NA GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCTTGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGCCAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT GATAATGAATCAAATTTCATATGGCTGTTTCCATCTGTGTTCCAGGATCTGCATGTGCACAAATTCTTCCATCATTGCCAGCTGATTCAGTCAGGCTCGAAAGAAGTTCCAGGGGAGCTCATTAAATATTTAAAGGTAAATGAACAGCAGCTTTCTGCAAAACGTTTGTT control 46 41 0 0 0 628 984 0 0.00629254933568732 0.00314627466784366 0.981600086368981 0.990205760833932 0.9559430271921 0.986027641000589 -0.981600086368981 -0.990205760833932 -0.9559430271921 -0.979735091664901 0.985902923601456 0.970985334096344 -0.985902923601456 -0.9678390594285 0.0180638641729556 TRUE TRUE NA NA NA NA NA DOCK11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK11 NA NA NA ENSG00000147251 ENSE00000979338 NA NA NA NA NA NA NA 0.998084519073803 TRUE NA ENSE00000979462_000 ENSE00000979462 000 X 135861535 135861704 - 38 84 48 NA NA NA NA NA TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT 136779375 136779545 NA NA NA NA NA NA TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT natural 24 18 0.993441451053646 0.994522614257385 0.993982032655516 1359 512 0.991584796748872 0.970927793489103 0.981256295118987 0.993441451053646 0.994522614257385 0.991584796748872 0.970927793489103 0 0 0 0 0.993982032655516 0.981256295118987 0 0 0 FALSE FALSE NA NA NA NA NA ARHGEF6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF6 NA NA NA ENSG00000129675 ENSE00000979462 NA NA NA NA NA NA NA 0.998212122551167 TRUE NA ENSE00000979462_002 ENSE00000979462 002 X 135861535 135861704 - 38 84 48 G A 135861560 1027 145 TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCTGGGTGCCTTCCCTGTTGTCATCGTT 136779375 136779545 136779400 136779401 136779401 downstr_intron 13 1.35135135135135 TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCTGGGTGCCTTCCCTGTTGTCATCGTT TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT mutant NA NA NA NA NA 105 171 1 1 1 0.993441451053646 0.994522614257385 0.991584796748872 0.970927793489103 NA NA 0.00841520325112788 0.0290722065108973 0.993982032655516 0.981256295118987 NA 0.0187437048810126 NA FALSE NA 0 -1.659 . intron_variant MODIFIER ARHGEF6 HGNC 685 ENST00000250617 2/21 rs201948429 1 A:0 A:0 NA A:0 A:0 A:0.001 CGG G 2.471e-05 X:136779401 ARHGEF6 HGNC Symbol protein_coding 116541 ENSG00000129675 ENSE00000979462 intron_variant 0.216342 0.29436 0.02434 0 0.668267917091687 0.0832847 0.998212122551167 TRUE 1.67922e-05 ENSE00000979462_003 ENSE00000979462 003 X 135861535 135861704 - 38 84 48 C T 135861576 1028 129 TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTAGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT 136779375 136779545 136779416 136779417 136779417 exon -4 0.964285714285714 TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTAGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT mutant NA NA NA NA NA 31 853 1 0.99765196256558 0.99882598128279 0.993441451053646 0.994522614257385 0.991584796748872 0.970927793489103 NA NA 0.00841520325112788 0.0267241690764777 0.993982032655516 0.981256295118987 NA 0.0175696861638028 NA FALSE NA 0.937 0.05 . synonymous_variant LOW ARHGEF6 HGNC 685 ENST00000250617 2/22 1 NA CCA C 1.647e-05 X:136779417 ARHGEF6 HGNC Symbol protein_coding 116541 ENSG00000129675 ENSE00000979462 synonymous_variant 1.223375 0.93153 0.69955 0 0.764909175113035 0 0.998212122551167 TRUE 5.59625e-06 ENSE00000979462_007 ENSE00000979462 007 X 135861535 135861704 - 38 84 48 A G 135861667 1032 38 TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGCGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT 136779375 136779545 136779507 136779508 136779508 upstr_intron -11 -0.208333333333333 TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGCGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT mutant NA NA NA NA NA 600 1207 0.801303175149725 0.930598542650901 0.865950858900313 0.993441451053646 0.994522614257385 0.991584796748872 0.970927793489103 NA NA -0.190281621599147 -0.0403292508382014 0.993982032655516 0.981256295118987 NA -0.115305436218674 NA FALSE NA 0.929 7.52 rs140322310 intron_variant MODIFIER ARHGEF6 HGNC 685 ENST00000250617 1/21 rs140322310&CS002665 1 G:0.0008 G:0.0014 NA G:0 G:0.004 G:0 G:0.0005 G:0.0024 CAC A 0.001631 X:136779508 ARHGEF6 HGNC Symbol protein_coding 116541 ENSG00000129675 ENSE00000979462 intron_variant 1.416689 0.33541 0.84743 0 0.812206541896119 0.341975 0.998212122551167 TRUE 0.00160672 ENSE00000979462_008 ENSE00000979462 008 X 135861535 135861704 - 38 84 48 A G 135861694 1033 11 TGGCATGGGACGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT 136779375 136779545 136779534 136779535 136779535 upstr_intron -38 -0.770833333333333 TGGCATGGGACGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT mutant NA NA NA NA NA 77 67 1 1 1 0.993441451053646 0.994522614257385 0.991584796748872 0.970927793489103 NA NA 0.00841520325112788 0.0290722065108973 0.993982032655516 0.981256295118987 NA 0.0187437048810126 NA FALSE NA 0.005 0.33 . intron_variant MODIFIER ARHGEF6 HGNC 685 ENST00000250617 1/21 rs199519123 1 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0003 CAT A 0.0001071 X:136779535 ARHGEF6 HGNC Symbol protein_coding 116541 ENSG00000129675 ENSE00000979462 intron_variant 0.571613 0.26383 0.17874 0 0.647928679488037 0.225049 0.998212122551167 TRUE 8.99488e-05 ENSE00000979462_BRK ENSE00000979462 BRK X 135861535 135861704 - 38 84 48 A,G; T,T NA NA NA TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTTTTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAACCAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT 136779375 136779545 NA NA NA NA NA NA TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTTTTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAACCAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT TGGCATGGGATGACAATCTCCAAGTGACATTTCACTGTGTTCCTCTAGTTTTGTCTGGATCCCCAAACTGAAGCTGACTGCATCAACAACATCAATGACTTCCTGAAAGGATGTGCAACCCTCCAAGTGGAAGTAAGCCTACCCCGGGTGCCTTCCCTGTTGTCATCGTT control 21 42 0.85 0.912976372379953 0.881488186189976 NA NA NA NA NA 0.993441451053646 0.994522614257385 0.991584796748872 0.970927793489103 -0.143441451053646 -0.0815462418774325 NA NA 0.993982032655516 0.981256295118987 -0.112493846465539 NA NA NA FALSE NA NA NA NA NA ARHGEF6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF6 NA NA NA ENSG00000129675 ENSE00000979462 NA NA NA NA NA NA NA 0.998212122551167 TRUE NA ENSE00000979593_000 ENSE00000979593 000 8 10690369 10690538 - 33 93 44 NA NA NA NA NA AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 NA NA NA NA NA NA TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT natural 45 49 0.988753462162093 0.999082916358847 0.99391818926047 1594 1677 0.936713267667005 0.954813676463696 0.94576347206535 0.988753462162093 0.999082916358847 0.936713267667005 0.954813676463696 0 0 0 0 0.99391818926047 0.94576347206535 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003590945 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00000979593_018 ENSE00000979593 018 8 10690369 10690538 - 33 93 44 G C 10690435 98 104 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGCTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832924 10832925 10832925 exon -34 0.645161290322581 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAAGCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 229 1289 1 0.996672699516185 0.998336349758092 0.988753462162093 0.999082916358847 0.936713267667005 0.954813676463696 NA NA 0.0632867323329953 0.0418590230524891 0.99391818926047 0.94576347206535 NA 0.0525728776927422 NA FALSE NA 1 5.613 NA NA NA SOX7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC105001.2 NA NA NA ENSG00000258724 ENSE00003590945 missense_variant 5.812759 0.98303 0.99026 0.706548 0.997856403950577 0 NA NA 8.17387e-06 ENSE00000979998_000 ENSE00000979998 000 8 20066903 20067072 + 41 99 30 NA NA NA NA NA GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 NA NA NA NA NA NA GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT natural 73 84 0.994269983370504 0.987137549902033 0.990703766636269 4941 7381 0.930728514590344 0.891055851289701 0.910892182940022 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 0 0 0 0 0.990703766636269 0.910892182940022 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP6V1B2 NA NA NA ENSG00000147416 ENSE00003669300 NA NA NA NA NA NA NA 0.991448562707497 TRUE NA ENSE00000979998_001 ENSE00000979998 001 8 20066903 20067072 + 41 99 30 G A 20066913 119 11 GTAAAATGTCAGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209401 20209402 20209402 upstr_intron -31 -0.731707317073171 GTAAAATGTCAGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 1130 1203 0.991190455616032 0.876274760872742 0.933732608244387 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0604619410256881 -0.014781090416959 0.990703766636269 0.910892182940022 NA 0.0228404253043646 NA FALSE NA 0 0.324 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:20209402 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant 0.061548 0.19 0.07853 0.295142 0.643438385194775 0.0582165 0.991448562707497 TRUE 0.000398158 ENSE00000979998_002 ENSE00000979998 002 8 20066903 20067072 + 41 99 30 G C 20066913 120 11 GTAAAATGTCCGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209401 20209402 20209402 upstr_intron -31 -0.731707317073171 GTAAAATGTCCGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 943 657 1 0.995885521293583 0.997942760646792 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0692714854096563 0.104829670003882 0.990703766636269 0.910892182940022 NA 0.0870505777067694 NA FALSE NA 0 0.324 NA NA NA ATP6V1B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP6V1B2 NA NA NA ENSG00000147416 ENSE00003669300 intron_variant -0.286496 0.21595 0.10681 0.295142 0.575293482292424 0.0582165 0.991448562707497 TRUE 4.10472e-06 ENSE00000979998_003 ENSE00000979998 003 8 20066903 20067072 + 41 99 30 A G 20066917 121 15 GTAAAATGTCGGATGTTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209405 20209406 20209406 upstr_intron -27 -0.634146341463415 GTAAAATGTCGGATGTTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 508 64 0.996212848097754 0.996912629588413 0.996562738843083 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0654843335074099 0.105856778298712 0.990703766636269 0.910892182940022 NA 0.0856705559030611 NA FALSE NA 0 0.044 . intron_variant MODIFIER ATP6V1B2 HGNC 854 ENST00000519667 2/5 1 NA TAT A,G 8.238e-06 8:20209406 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant 0.254326 0.18744 0.10897 0.295142 0.622698505629604 0.0582165 0.991448562707497 TRUE 4.08837e-06 ENSE00000979998_004 ENSE00000979998 004 8 20066903 20067072 + 41 99 30 T A 20066919 122 17 GTAAAATGTCGGATATAGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209407 20209408 20209408 upstr_intron -25 -0.585365853658537 GTAAAATGTCGGATATAGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 1082 135 0.998431895070546 1 0.999215947535273 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0677033804802024 0.108944148710299 0.990703766636269 0.910892182940022 NA 0.0883237645952508 NA FALSE NA 0 0.071 . intron_variant MODIFIER ATP6V1B2 HGNC 854 ENST00000519667 2/5 1 NA TTG T,A 1.648e-05 8:20209408 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant 0.812701 0.22052 0.27145 0.295142 0.768462469543674 0.0582165 0.991448562707497 TRUE 2.04207e-05 ENSE00000979998_005 ENSE00000979998 005 8 20066903 20067072 + 41 99 30 G C 20066920 123 18 GTAAAATGTCGGATATTCATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209408 20209409 20209409 upstr_intron -24 -0.560975609756098 GTAAAATGTCGGATATTCATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 31 622 1 0.999745651448836 0.999872825724418 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0692714854096563 0.108689800159135 0.990703766636269 0.910892182940022 NA 0.0889806427843957 NA FALSE NA 0 0.386 rs117663862 intron_variant MODIFIER ATP6V1B2 HGNC 854 ENST00000519667 2/5 rs117663862 1 C:0.0026 C:0 C:0 NA C:0.0129 C:0 C:0 TGA G,C 0.001153 8:20209409 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant 0.081159 0.22941 0.12818 0.295142 0.57838181348588 0.0582165 0.991448562707497 TRUE 0.00115578 ENSE00000979998_006 ENSE00000979998 006 8 20066903 20067072 + 41 99 30 T A 20066922 124 20 GTAAAATGTCGGATATTGAACCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209410 20209411 20209411 upstr_intron -22 -0.51219512195122 GTAAAATGTCGGATATTGAACCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 1526 742 0.999188134388821 0.996481312943674 0.997834723666248 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0684596197984777 0.105425461653973 0.990703766636269 0.910892182940022 NA 0.0869425407262254 NA FALSE NA 0 -0.499 . intron_variant MODIFIER ATP6V1B2 HGNC 854 ENST00000519667 2/5 rs201862982 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0023 A:0 ATC T,A 0.0001977 8:20209411 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant 0.583586 0.24864 0.06228 0.295142 0.811108363018742 0.0582165 0.991448562707497 TRUE 0.00015094 ENSE00000979998_007 ENSE00000979998 007 8 20066903 20067072 + 41 99 30 C A 20066924 125 22 GTAAAATGTCGGATATTGATCATTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209412 20209413 20209413 upstr_intron -20 -0.463414634146341 GTAAAATGTCGGATATTGATCATTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 617 952 0.994817940910672 0.997355244395407 0.996086592653039 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0640894263203282 0.106299393105706 0.990703766636269 0.910892182940022 NA 0.0851944097130171 NA FALSE NA 0 -0.032 . intron_variant MODIFIER ATP6V1B2 HGNC 854 ENST00000519667 2/5 1 NA CCT C,A 8.238e-06 8:20209413 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant -0.112642 0.16406 0.09691 0.295142 0.513052906445551 0.0582165 0.991448562707497 TRUE NA ENSE00000979998_008 ENSE00000979998 008 8 20066903 20067072 + 41 99 30 T G 20066930 126 28 GTAAAATGTCGGATATTGATCCTTTATGTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209418 20209419 20209419 upstr_intron -14 -0.317073170731707 GTAAAATGTCGGATATTGATCCTTTATGTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 255 263 0.996227940531626 1 0.998113970265813 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0654994259412824 0.108944148710299 0.990703766636269 0.910892182940022 NA 0.0872217873257908 NA FALSE NA 0.001 0.836 . intron_variant MODIFIER ATP6V1B2 HGNC 854 ENST00000519667 2/5 1 NA TTT T,G 8.237e-06 8:20209419 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant 0.258572 0.24473 0.07244 0.295142 0.604110605773217 0.0582165 0.991448562707497 TRUE 4.07425e-06 ENSE00000979998_009 ENSE00000979998 009 8 20066903 20067072 + 41 99 30 T A 20066931 127 29 GTAAAATGTCGGATATTGATCCTTTATTATTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209419 20209420 20209420 upstr_intron -13 -0.292682926829268 GTAAAATGTCGGATATTGATCCTTTATTATTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 1305 74 0.999779044894483 1 0.999889522447241 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0690505303041393 0.108944148710299 0.990703766636269 0.910892182940022 NA 0.0889973395072193 NA FALSE NA 0.001 0.084 . intron_variant MODIFIER ATP6V1B2 HGNC 854 ENST00000519667 2/5 1 NA TTT T,A 8.237e-06 8:20209420 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant 0.542493 0.28697 0.08273 0.295142 0.71135328911382 0.0582165 0.991448562707497 TRUE 4.07322e-06 ENSE00000979998_010 ENSE00000979998 010 8 20066903 20067072 + 41 99 30 G A 20066951 128 49 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAAGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209439 20209440 20209440 exon 8 0.0808080808080808 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAAGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 91 1973 1 0.998434698765338 0.999217349382669 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0692714854096563 0.107378847475637 0.990703766636269 0.910892182940022 NA 0.0883251664426469 NA FALSE NA 1 5.121 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:20209440 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 splice_acceptor_variant 1.632313 0.98436 0.97761 0.719381 0.991843923375962 0 0.991448562707497 TRUE 8.13233e-06 ENSE00000979998_011 ENSE00000979998 011 8 20066903 20067072 + 41 99 30 G T 20066951 129 49 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCATGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209439 20209440 20209440 exon 8 0.0808080808080808 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCATGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 612 508 1 1 1 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0692714854096563 0.108944148710299 0.990703766636269 0.910892182940022 NA 0.0891078170599778 NA FALSE NA 1 5.121 NA NA NA ATP6V1B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP6V1B2 NA NA NA ENSG00000147416 ENSE00003669300 splice_acceptor_variant 3.265025 0.98557 0.98392 0.719381 0.992122896350901 0 0.991448562707497 TRUE 4.06616e-06 ENSE00000979998_012 ENSE00000979998 012 8 20066903 20067072 + 41 99 30 C G 20066968 130 66 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCGATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209456 20209457 20209457 exon 25 0.252525252525253 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCGATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 780 350 0.916380383600395 1 0.958190191800198 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA -0.0143481309899485 0.108944148710299 0.990703766636269 0.910892182940022 NA 0.0472980088601754 NA FALSE NA 1 7.226 . missense_variant MODERATE ATP6V1B2 HGNC 854 ENST00000519667 3/6 1 tolerated(0.27) benign(0.098) NA CCA C,G 8.237e-06 8:20209457 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 missense_variant 3.416346 0.9938 0.99227 0.706548 0.993630408946986 0 0.991448562707497 TRUE 1.62578e-05 ENSE00000979998_013 ENSE00000979998 013 8 20066903 20067072 + 41 99 30 A G 20066969 131 67 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCGTTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209457 20209458 20209458 exon 26 0.262626262626263 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCGTTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 286 802 0.95663739272546 0.998653978448158 0.977645685586809 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.025908878135116 0.107598127158457 0.990703766636269 0.910892182940022 NA 0.0667535026467865 NA FALSE NA 1 6.837 . missense_variant MODERATE ATP6V1B2 HGNC 854 ENST00000519667 3/6 1 tolerated(0.29) benign(0.005) NA CAT A,G 8.237e-06 8:20209458 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 missense_variant 2.539159 0.99182 0.98964 0.706548 0.995879190457203 0 0.991448562707497 TRUE 4.06408e-06 ENSE00000979998_014 ENSE00000979998 014 8 20066903 20067072 + 41 99 30 C T 20066980 132 78 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTATCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209468 20209469 20209469 exon 37 0.373737373737374 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTATCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 1849 2134 0.999106297952366 1 0.999553148976183 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0683777833620226 0.108944148710299 0.990703766636269 0.910892182940022 NA 0.0886609660361609 NA FALSE NA 1 7.226 . missense_variant MODERATE ATP6V1B2 HGNC 854 ENST00000519667 3/6 1 tolerated(0.2) benign(0.03) NA ACC C,T 3.295e-05 8:20209469 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 missense_variant 3.569532 0.99346 0.98968 0.706548 0.999065203830548 0 0.991448562707497 TRUE 1.62545e-05 ENSE00000979998_015 ENSE00000979998 015 8 20066903 20067072 + 41 99 30 G A 20066982 133 80 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCAGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209470 20209471 20209471 exon 39 0.393939393939394 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCAGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 760 414 0.887622525023991 0.999815939057124 0.943719232040557 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA -0.0431059895663531 0.108760087767423 0.990703766636269 0.910892182940022 NA 0.0328270491005349 NA FALSE NA 0 -1.782 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:20209471 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 synonymous_variant 1.978669 0.93346 0.08889 0.706548 0.557167375536581 0 0.991448562707497 TRUE 1.21911e-05 ENSE00000979998_016 ENSE00000979998 016 8 20066903 20067072 + 41 99 30 G T 20066982 134 80 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCTGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209470 20209471 20209471 exon 39 0.393939393939394 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCTGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 634 968 0.856560995649973 0.78884239958372 0.822701697616846 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA -0.074167518940371 -0.102213451705981 0.990703766636269 0.910892182940022 NA -0.0881904853231761 NA FALSE NA 0 -1.782 NA NA NA ATP6V1B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP6V1B2 NA NA NA ENSG00000147416 ENSE00003669300 synonymous_variant 1.673917 0.94121 0.08482 0.706548 0.612018595643021 0 0.991448562707497 TRUE 4.06369e-06 ENSE00000979998_017 ENSE00000979998 017 8 20066903 20067072 + 41 99 30 C A 20067004 135 102 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGAAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209492 20209493 20209493 exon -39 0.616161616161616 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGAAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 736 1648 0.996307848019053 0.935949445110225 0.966128646564639 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0655793334287089 0.0448935938205246 0.990703766636269 0.910892182940022 NA 0.0552364636246168 NA FALSE NA 1 5.488 . missense_variant MODERATE ATP6V1B2 HGNC 854 ENST00000519667 3/6 1 tolerated(0.11) benign(0.031) NA GCA C,A 1.647e-05 8:20209493 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 missense_variant 3.649395 0.99331 0.98737 0.706548 0.990285815129555 0 0.991448562707497 TRUE 8.12645e-06 ENSE00000979998_018 ENSE00000979998 018 8 20066903 20067072 + 41 99 30 G A 20067012 136 110 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTAGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209500 20209501 20209501 exon -31 0.696969696969697 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTAGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 280 501 1 1 1 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0692714854096563 0.108944148710299 0.990703766636269 0.910892182940022 NA 0.0891078170599778 NA FALSE NA 0.652 -0.136 . synonymous_variant LOW ATP6V1B2 HGNC 854 ENST00000519667 3/6 rs370420907 1 NA A:0.0002 A:0 TGG G,A 1.647e-05 8:20209501 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 synonymous_variant 1.201272 0.93876 0.42426 0.706548 0.773098575047524 0 0.991448562707497 TRUE 8.12744e-06 ENSE00000979998_019 ENSE00000979998 019 8 20066903 20067072 + 41 99 30 T C 20067018 137 116 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTCAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209506 20209507 20209507 exon -25 0.757575757575758 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTCAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 1643 1159 0.997349481664447 0.998303524620982 0.997826503142714 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0666209670741029 0.107247673331281 0.990703766636269 0.910892182940022 NA 0.0869343202026921 NA FALSE NA 0.073 -0.84 . synonymous_variant LOW ATP6V1B2 HGNC 854 ENST00000519667 3/6 rs373857158 1 NA C:0.0002 C:0 TTA T,C 8.237e-06 8:20209507 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 synonymous_variant 1.14667 0.95973 0.23904 0.706548 0.730959813798654 0 0.991448562707497 TRUE 4.06355e-06 ENSE00000979998_020 ENSE00000979998 020 8 20066903 20067072 + 41 99 30 G C 20067023 138 121 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGCTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209511 20209512 20209512 exon -20 0.808080808080808 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGCTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 15 819 1 1 1 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0692714854096563 0.108944148710299 0.990703766636269 0.910892182940022 NA 0.0891078170599778 NA FALSE NA 1 7.317 . missense_variant MODERATE ATP6V1B2 HGNC 854 ENST00000519667 3/6 1 deleterious(0.02) probably_damaging(0.953) NA GGT G,C 8.237e-06 8:20209512 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 missense_variant 6.141076 0.99354 0.99274 0.706548 0.998066935820276 0 0.991448562707497 TRUE 4.06375e-06 ENSE00000979998_021 ENSE00000979998 021 8 20066903 20067072 + 41 99 30 A G 20067028 139 126 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCGAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 20209516 20209517 20209517 exon -15 0.858585858585859 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCGAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 608 903 0.999184918425558 0.998505775298131 0.998845346861844 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.068456403835214 0.10744992400843 0.990703766636269 0.910892182940022 NA 0.0879531639218222 NA FALSE NA 1 8.648 . missense_variant MODERATE ATP6V1B2 HGNC 854 ENST00000519667 3/6 1 deleterious(0.01) possibly_damaging(0.571) NA CAA A,G 8.237e-06 8:20209517 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 missense_variant 5.31394 0.9914 0.99327 0.706548 0.997774622241839 0 0.991448562707497 TRUE 4.06405e-06 ENSE00000979998_025 ENSE00000979998 025 8 20066903 20067072 + 41 99 30 A G 20067060 143 158 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCGGCTGAACTGTTT 20209391 20209561 20209548 20209549 20209549 downstr_intron 18 1.62068965517241 GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCGGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT mutant NA NA NA NA NA 34 462 1 0.9909936400616 0.9954968200308 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 NA NA 0.0692714854096563 0.0999377887718992 0.990703766636269 0.910892182940022 NA 0.0846046370907778 NA FALSE NA 0 -0.248 . intron_variant MODIFIER ATP6V1B2 HGNC 854 ENST00000519667 3/5 rs568942802 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAG A,G 8.238e-06 8:20209549 ATP6V1B2 HGNC Symbol protein_coding 29452 ENSG00000147416 ENSE00003669300 intron_variant 0.442883 0.20906 0.06163 0.099367 0.713202588492818 0.046875 0.991448562707497 TRUE 4.06812e-06 ENSE00000979998_BRK ENSE00000979998 BRK 8 20066903 20067072 + 41 99 30 A,G; T,T NA NA NA GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTTTTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGCCAAGTTTCAGCTGGCCAGCTGAACTGTTT 20209391 20209561 NA NA NA NA NA NA GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTTTTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGCCAAGTTTCAGCTGGCCAGCTGAACTGTTT GTAAAATGTCGGATATTGATCCTTTATTTTTTTCTCTTTAGTTTCCCAGGTATGCTGAAATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTAAGTTTCAGCTGGCCAGCTGAACTGTTT control 51 21 0 0 0 112 56 0 0 0 0.994269983370504 0.987137549902033 0.930728514590344 0.891055851289701 -0.994269983370504 -0.987137549902033 -0.930728514590344 -0.891055851289701 0.990703766636269 0.910892182940022 -0.990703766636269 -0.910892182940022 0.0798115836962465 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003669300 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000980091_000 ENSE00000980091 000 8 25279057 25279226 - 32 96 42 NA NA NA NA NA GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 NA NA NA NA NA NA TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC natural NA NA NA NA NA 5184 4030 0.913710698279533 0.875991523436876 0.894851110858205 NA NA 0.913710698279533 0.875991523436876 NA NA 0 0 NA 0.894851110858205 NA 0 NA FALSE NA NA NA NA NA NA RP11-395I14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GNRH1 NA NA NA ENSG00000147437 ENSE00000980091 NA NA NA NA NA NA NA 0.0986916060732056 FALSE NA ENSE00000980091_001 ENSE00000980091 001 8 25279057 25279226 - 32 96 42 C A 25279076 473 151 GCTGTGATCATGTTATGATAACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421559 25421560 25421560 downstr_intron 13 1.41935483870968 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTTATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 789 1431 0.864900299202399 0.986630328676571 0.925765313939485 NA NA 0.913710698279533 0.875991523436876 NA NA -0.0488103990771336 0.110638805239695 NA 0.894851110858205 NA 0.0309142030812807 NA FALSE NA 0 -0.006 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 rs372375459 1 NA A:0 A:0.0001 TCA C,A 8.269e-06 8:25421560 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 intron_variant 1.755236 0.2087 0.0587 0.156188 0.852525840576119 0.0926314 0.0986916060732056 FALSE 4.13688e-06 ENSE00000980091_003 ENSE00000980091 003 8 25279057 25279226 - 32 96 42 C T 25279096 475 131 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTTCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421579 25421580 25421580 exon -8 0.927083333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGAAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 254 570 0.999837866389409 0.997834446120143 0.998836156254776 NA NA 0.913710698279533 0.875991523436876 NA NA 0.086127168109876 0.121842922683267 NA 0.894851110858205 NA 0.103985045396571 NA FALSE NA 0.636 0.704 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA TCC C,T 8.267e-06 8:25421580 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 1.097999 0.9495 0.36531 0.562547 0.769899524981824 0 0.0986916060732056 FALSE 4.09309e-06 ENSE00000980091_005 ENSE00000980091 005 8 25279057 25279226 - 32 96 42 T C 25279099 477 128 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTCTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421582 25421583 25421583 exon -11 0.895833333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAGAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 333 802 0.999539503996321 0.855054974235377 0.927297239115849 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0858288057167883 -0.0209365492014991 NA 0.894851110858205 NA 0.0324461282576446 NA FALSE NA 0.151 -0.166 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA TTT T,C 8.266e-06 8:25421583 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 0.134962 0.74125 0.07428 0.562547 0.872169517426875 0 0.0986916060732056 FALSE 4.08847e-06 ENSE00000980091_008 ENSE00000980091 008 8 25279057 25279226 - 32 96 42 C T 25279120 480 107 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAATGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421603 25421604 25421604 exon -32 0.677083333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACATTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 177 110 1 1 1 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0862893017204671 0.124008476563124 NA 0.894851110858205 NA 0.105148889141795 NA FALSE NA 0 -1.033 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 rs369822566 1 NA T:0 T:0.0001 ACG C,T 2.479e-05 8:25421604 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 0.93924 0.15444 0.02308 0.562547 0.671166745116572 0 0.0986916060732056 FALSE 2.44664e-05 ENSE00000980091_009 ENSE00000980091 009 8 25279057 25279226 - 32 96 42 G A 25279121 481 106 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACATGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421604 25421605 25421605 exon -33 0.666666666666667 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCATGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 448 524 0.999381316281604 0.983324892560772 0.991353104421188 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0856706180020708 0.107333369123896 NA 0.894851110858205 NA 0.0965019935629833 NA FALSE NA 0.136 2.911 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA CGT G,A 3.306e-05 8:25421605 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 3.770476 0.44362 0.31849 0.562547 0.829424758153679 0 0.0986916060732056 FALSE 1.6308e-05 ENSE00000980091_010 ENSE00000980091 010 8 25279057 25279226 - 32 96 42 G C 25279128 482 99 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGCTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421611 25421612 25421612 exon -40 0.59375 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCAGCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 39 33 0.98894640572104 1 0.99447320286052 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0752357074415074 0.124008476563124 NA 0.894851110858205 NA 0.0996220920023156 NA FALSE NA 1 1.328 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA GGT G,C 8.265e-06 8:25421612 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 0.677619 0.89271 0.82197 0.562547 0.575620174097438 0 0.0986916060732056 FALSE 4.07588e-06 ENSE00000980091_011 ENSE00000980091 011 8 25279057 25279226 - 32 96 42 G A 25279132 483 95 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCATGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421615 25421616 25421616 exon -44 0.552083333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCATGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 1131 1616 0.854277879245259 0.996360750564606 0.925319314904933 NA NA 0.913710698279533 0.875991523436876 NA NA -0.0594328190342734 0.12036922712773 NA 0.894851110858205 NA 0.0304682040467281 NA FALSE NA 0.01 1.109 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA CGT A,A 4.959e-05 8:25421616 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 0.363112 0.1131 0.00319 0.562547 0.697508226714992 0 0.0986916060732056 FALSE 6.52108e-05 ENSE00000980091_013 ENSE00000980091 013 8 25279057 25279226 - 32 96 42 C T 25279138 485 89 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGTATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421621 25421622 25421622 exon 47 0.489583333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATACACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 684 803 0.993745879358688 1 0.996872939679344 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0800351810791553 0.124008476563124 NA 0.894851110858205 NA 0.10202182882114 NA FALSE NA 1 4.32 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA GCA C,T 0.0001901 8:25421622 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 5.143235 0.98433 0.94454 0.562547 0.98251376090318 0 0.0986916060732056 FALSE 0.000171149 ENSE00000980091_014 ENSE00000980091 014 8 25279057 25279226 - 32 96 42 C T 25279142 486 85 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTTGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421625 25421626 25421626 exon 43 0.447916666666667 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCAAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 607 427 1 0.998197318489741 0.999098659244871 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0862893017204671 0.122205795052865 NA 0.894851110858205 NA 0.104247548386666 NA FALSE NA 0.953 2.004 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 COSM1098455 1 NA TCG C,T 8.266e-06 8:25421626 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 3.973823 0.97099 0.8617 0.562547 0.998248331003627 0 0.0986916060732056 FALSE 1.62969e-05 ENSE00000980091_015 ENSE00000980091 015 8 25279057 25279226 - 32 96 42 G A 25279143 487 84 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCAAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421626 25421627 25421627 exon 42 0.4375 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTTGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 498 228 0.987453912464527 0.999305715561682 0.993379814013104 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0737432141849944 0.123314192124806 NA 0.894851110858205 NA 0.0985287031549 NA FALSE NA 0 -3.988 rs6186 downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 rs6186 1 A:0.0126 A:0.0431 A:0.0043 NA A:0 A:0.003 A:0 A:0.0308 A:0.0057 CGA G,A 0.005662 8:25421627 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 synonymous_variant 0.384506 0.08434 0.0068 0.562547 0.829248661903234 0 0.0986916060732056 FALSE 0.00517753 ENSE00000980091_016 ENSE00000980091 016 8 25279057 25279226 - 32 96 42 C T 25279147 488 80 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGTGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421630 25421631 25421631 exon 38 0.395833333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACACTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 307 130 1 0.978987340324278 0.989493670162139 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0862893017204671 0.102995816887402 NA 0.894851110858205 NA 0.0946425593039344 NA FALSE NA 0 -2.124 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 rs199693231 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCG C,T 2.48e-05 8:25421631 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant -0.491802 0.10525 0.00655 0.562547 0.859698423941194 0 0.0986916060732056 FALSE 2.85174e-05 ENSE00000980091_017 ENSE00000980091 017 8 25279057 25279226 - 32 96 42 G A 25279148 489 79 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCATTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421631 25421632 25421632 exon 37 0.385416666666667 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAATGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 1150 149 0.958196592261902 1 0.979098296130951 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0444858939823696 0.124008476563124 NA 0.894851110858205 NA 0.0842471852727467 NA FALSE NA 0.003 1.076 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 rs574867408 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGT G,A 4.133e-05 8:25421632 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 1.660689 0.19437 0.09539 0.562547 0.942674038454278 0 0.0986916060732056 FALSE 9.36802e-05 ENSE00000980091_018 ENSE00000980091 018 8 25279057 25279226 - 32 96 42 T C 25279149 490 78 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGCTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421632 25421633 25421633 exon 36 0.375 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAGCGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 67 756 0.983589226803638 0.999790746874389 0.991689986839013 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0698785285241049 0.123799223437512 NA 0.894851110858205 NA 0.0968388759808086 NA FALSE NA 0.002 -0.885 NA NA NA RP11-395I14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25421633 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 synonymous_variant -1.57111 0.11824 0.00295 0.562547 0.229727983139058 0 0.0986916060732056 FALSE 0.000395048 ENSE00000980091_022 ENSE00000980091 022 8 25279057 25279226 - 32 96 42 A G 25279171 494 56 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAGCCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421654 25421655 25421655 exon 14 0.145833333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGCTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 636 768 0.998371011198349 0.998902324680492 0.998636667939421 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0846603129188165 0.122910801243615 NA 0.894851110858205 NA 0.103785557081216 NA FALSE NA 0 0.352 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA AAC A,G 8.269e-06 8:25421655 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 0.041993 0.17697 0.06351 0.372202 0.701079513428409 0 0.0986916060732056 FALSE NA ENSE00000980091_024 ENSE00000980091 024 8 25279057 25279226 - 32 96 42 G A 25279179 496 48 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTAACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421662 25421663 25421663 exon 6 0.0625 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTTAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 207 400 0.995335719505455 0.996491202782424 0.995913461143939 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0816250212259223 0.120499679345547 NA 0.894851110858205 NA 0.101062350285735 NA FALSE NA 0.989 0.807 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA TGA G,A 8.27e-06 8:25421663 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 synonymous_variant 0.246901 0.96291 0.74031 0.372202 0.591653165611471 0 0.0986916060732056 FALSE 1.22398e-05 ENSE00000980091_025 ENSE00000980091 025 8 25279057 25279226 - 32 96 42 A C 25279183 497 44 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTCTCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421666 25421667 25421667 exon 2 0.0208333333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGAGAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 370 70 0.998432354870817 1 0.999216177435408 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0847216565912837 0.124008476563124 NA 0.894851110858205 NA 0.104365066577204 NA FALSE NA 0.91 1.425 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25421667 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 missense_variant 1.391383 0.94177 0.7179 0.372202 0.954387123501199 0 0.0986916060732056 FALSE 3.26669e-05 ENSE00000980091_026 ENSE00000980091 026 8 25279057 25279226 - 32 96 42 A G 25279183 498 44 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTGTCTGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421666 25421667 25421667 exon 2 0.0208333333333333 TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGACAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 1197 539 0.993563068060295 0.999412710708547 0.996487889384421 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0798523697807619 0.123421187271671 NA 0.894851110858205 NA 0.101636778526217 NA FALSE NA 0.91 1.425 NA NA NA RP11-395I14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GNRH1 NA NA NA ENSG00000147437 ENSE00000980091 missense_variant 0.55577 0.94259 0.7096 0.372202 0.762874002517253 0 0.0986916060732056 FALSE 4.08337e-06 ENSE00000980091_027 ENSE00000980091 027 8 25279057 25279226 - 32 96 42 G T 25279202 499 25 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTTATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 25421685 25421686 25421686 upstr_intron -18 -0.404761904761905 TTCTTTATCTCCATCTCAAAGCATAACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 270 415 1 0.999618719618535 0.999809359809268 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0862893017204671 0.123627196181659 NA 0.894851110858205 NA 0.104958248951063 NA FALSE NA 0.001 0.21 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA TGA G,T 1.654e-05 8:25421686 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 intron_variant -0.092545 0.23777 0.1381 0.088506 0.539585181985626 0.226939 0.0986916060732056 FALSE 8.24294e-06 ENSE00000980091_028 ENSE00000980091 028 8 25279057 25279226 - 32 96 42 G A 25279205 500 22 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATACTTTGAGATGGAGATAAAGAA 25421540 25421710 25421688 25421689 25421689 upstr_intron -21 -0.476190476190476 TTCTTTATCTCCATCTCAAAGTATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 220 2619 0.993065044041165 0.99670503245687 0.994885038249018 NA NA 0.913710698279533 0.875991523436876 NA NA 0.0793543457616326 0.120713509019993 NA 0.894851110858205 NA 0.100033927390813 NA FALSE NA 0.001 0.123 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA TGC G,A 8.272e-06 8:25421689 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 intron_variant 0.041103 0.21762 0.03704 0.088506 0.633001838900548 0.165868 0.0986916060732056 FALSE 4.12296e-06 ENSE00000980091_029 ENSE00000980091 029 8 25279057 25279226 - 32 96 42 G A 25279216 501 11 GCTGTGATCATGTTATGATCACTTTAACTTACCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATCTGAAGAAAGAGAATGTGATGCTTTGAGATGAAGATAAAGAA 25421540 25421710 25421699 25421700 25421700 upstr_intron -32 -0.738095238095238 TTCTTTATCTTCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC mutant NA NA NA NA NA 398 666 0.894041727609676 0.990496061772663 0.94226889469117 NA NA 0.913710698279533 0.875991523436876 NA NA -0.0196689706698565 0.114504538335787 NA 0.894851110858205 NA 0.0474177838329651 NA FALSE NA 0.009 0.828 . downstream_gene_variant MODIFIER RP11-395I14.2 Clone_based_vega_gene NA ENST00000523840 1 NA GGA G,A 8.275e-06 8:25421700 GNRH1 HGNC Symbol protein_coding 5394 ENSG00000147437 ENSE00000980091 intron_variant -0.203 0.21046 0.0947 0.088506 0.598179368199578 0.165868 0.0986916060732056 FALSE NA ENSE00000980091_BRK ENSE00000980091 BRK 8 25279057 25279226 - 32 96 42 A,G; T,T NA NA NA GCTGTGATCATGTTATGATCACTTTAACTTGGCAGAGCTCCTTTCAGGTCTCGGAGGGGAGAACGTGGCTGGTGCGTGGTGCATTCGAAGCGTTGGGTTTCTGCCAGTTGACCAACCTCTTTGACTATAAGAAGAAAGAGAATGTGATGCTTTGAGATGGAGATAAAGAA 25421540 25421710 NA NA NA NA NA NA TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCTTATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGCCAAGTTAAAGTGATCATAACATGATCACAGC TTCTTTATCTCCATCTCAAAGCATCACATTCTCTTTCTTCAGATAGTCAAAGAGGTTGGTCAACTGGCAGAAACCCAACGCTTCGAATGCACCACGCACCAGCCACGTTCTCCCCTCCGAGACCTGAAAGGAGCTCTGGTAAGTTAAAGTGATCATAACATGATCACAGC control NA NA NA NA NA 315 958 0 0.0524322309761738 0.0262161154880869 NA NA 0.913710698279533 0.875991523436876 NA NA -0.913710698279533 -0.823559292460702 NA 0.894851110858205 NA -0.868634995370118 NA TRUE NA NA NA NA NA NA RP11-395I14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GNRH1 NA NA NA ENSG00000147437 ENSE00000980091 NA NA NA NA NA NA NA 0.0986916060732056 FALSE NA ENSE00000980159_000 ENSE00000980159 000 8 21860689 21860858 + 41 99 30 NA NA NA NA NA TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 NA NA NA NA NA NA TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC natural 97 132 0.999457673989846 0.999233494557744 0.999345584273795 4914 3849 0.943353017427879 0.995353729215586 0.969353373321733 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 0 0 0 0 0.999345584273795 0.969353373321733 0 0 0 FALSE FALSE NA NA NA NA NA XPO7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPO7 NA NA NA ENSG00000130227 ENSE00000980159 NA NA NA NA NA NA NA 0.999999311353521 TRUE NA ENSE00000980159_002 ENSE00000980159 002 8 21860689 21860858 + 41 99 30 T G 21860711 171 23 TACATTAGGTCACTGCCTGAAAGTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003199 22003200 22003200 upstr_intron -19 -0.439024390243902 TACATTAGGTCACTGCCTGAAAGTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 348 262 0.907548565060384 0.999854613064005 0.953701589062194 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA -0.0358044523674956 0.00450088384841918 0.999345584273795 0.969353373321733 NA -0.0156517842595382 NA FALSE NA 0.001 -0.132 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 1 NA ATT T,G 8.276e-06 8:22003200 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 non_coding_transcript_exon_variant 0.449738 0.64357 0.00499 0.295142 0.623172137222728 0.114087 0.999999311353521 TRUE 4.42204e-06 ENSE00000980159_003 ENSE00000980159 003 8 21860689 21860858 + 41 99 30 A T 21860722 172 34 TACATTAGGTCACTGCCTGAAATTCTCCATTCCTTTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003210 22003211 22003211 upstr_intron -8 -0.170731707317073 TACATTAGGTCACTGCCTGAAATTCTCCATTCCTTTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 415 42 0.961626046801392 1 0.980813023400696 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0182730293735125 0.00464627078441426 0.999345584273795 0.969353373321733 NA 0.0114596500789634 NA FALSE NA 0 -0.934 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 1 NA CAT A,T 1.655e-05 8:22003211 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 splice_region_variant 0.076709 0.54329 0.00261 0.156188 0.772711968384369 0.0922227 0.999999311353521 TRUE 4.26942e-06 ENSE00000980159_004 ENSE00000980159 004 8 21860689 21860858 + 41 99 30 T C 21860725 173 37 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTCTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003213 22003214 22003214 upstr_intron -5 -0.0975609756097561 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTCTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 26 1033 1 1 1 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0566469825721208 0.00464627078441426 0.999345584273795 0.969353373321733 NA 0.0306466266782675 NA FALSE NA 0.002 1.615 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 rs536138218 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTT T,C 8.275e-06 8:22003214 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 splice_region_variant 1.31415 0.69903 0.00333 0.156188 0.824979966618927 0.266161 0.999999311353521 TRUE NA ENSE00000980159_005 ENSE00000980159 005 8 21860689 21860858 + 41 99 30 C T 21860733 174 45 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGTTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003221 22003222 22003222 exon 4 0.0404040404040404 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGTTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 41 667 0.996241063761201 0.999656924150597 0.997948993955899 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0528880463333218 0.00430319493501119 0.999345584273795 0.969353373321733 NA 0.0285956206341665 NA FALSE NA 1 3.055 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 1 NA GCT C,T 3.31e-05 8:22003222 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 synonymous_variant 2.260509 0.99213 0.24737 0.719381 0.980589511198626 0 0.999999311353521 TRUE 3.75231e-05 ENSE00000980159_006 ENSE00000980159 006 8 21860689 21860858 + 41 99 30 G T 21860741 175 53 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACTGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003229 22003230 22003230 exon 12 0.121212121212121 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACTGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 646 22 1 1 1 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0566469825721208 0.00464627078441426 0.999345584273795 0.969353373321733 NA 0.0306466266782675 NA FALSE NA 0.995 0.339 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 1 NA CGG G,T 4.137e-05 8:22003230 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 synonymous_variant 1.603244 0.98212 0.07367 0.719381 0.925636314357586 0 0.999999311353521 TRUE NA ENSE00000980159_007 ENSE00000980159 007 8 21860689 21860858 + 41 99 30 G A 21860747 176 59 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTAAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003235 22003236 22003236 exon 18 0.181818181818182 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTAAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 381 1314 0.999597554865601 1 0.999798777432801 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0562445374377218 0.00464627078441426 0.999345584273795 0.969353373321733 NA 0.0304454041110681 NA FALSE NA 1 3.785 rs34033679 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 rs34033679 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0023 A:0 TGA G,A 0.0001572 8:22003236 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 synonymous_variant 1.489195 0.99206 0.18558 0.719381 0.958958600928583 0 0.999999311353521 TRUE 0.000131097 ENSE00000980159_008 ENSE00000980159 008 8 21860689 21860858 + 41 99 30 C T 21860759 177 71 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATTTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003247 22003248 22003248 exon 30 0.303030303030303 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATTTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 1072 739 0.999961604437035 0.9968963572891 0.998428980863068 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0566085870091556 0.00154262807351468 0.999345584273795 0.969353373321733 NA 0.0290756075413351 NA FALSE NA 1 0.839 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 1 NA TCT C,T 8.274e-06 8:22003248 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 synonymous_variant 2.193533 0.98215 0.06569 0.719381 0.838594425892569 0 0.999999311353521 TRUE 4.0865e-06 ENSE00000980159_010 ENSE00000980159 010 8 21860689 21860858 + 41 99 30 G A 21860780 179 92 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAATGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003268 22003269 22003269 exon -49 0.515151515151515 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAATGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 1319 1366 0.997537461454707 0.999768374752339 0.998652918103523 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0541844440268276 0.00441464553675375 0.999345584273795 0.969353373321733 NA 0.0292995447817907 NA FALSE NA 1 6.622 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 1 NA AGT G,A 1.655e-05 8:22003269 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 synonymous_variant 1.068004 0.9901 0.24656 0.719381 0.914833161181369 0 0.999999311353521 TRUE 1.22531e-05 ENSE00000980159_011 ENSE00000980159 011 8 21860689 21860858 + 41 99 30 A G 21860787 180 99 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTGTGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003275 22003276 22003276 exon -42 0.585858585858586 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTGTGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 266 289 0.993112826685186 0.995800540337204 0.994456683511195 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0497598092573068 0.000446811121618373 0.999345584273795 0.969353373321733 NA 0.0251033101894626 NA FALSE NA 1 7.323 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 rs572686836 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TAT A,G 8.275e-06 8:22003276 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 missense_variant 2.381254 0.99347 0.3069 0.719381 0.990918273182928 0 0.999999311353521 TRUE NA ENSE00000980159_013 ENSE00000980159 013 8 21860689 21860858 + 41 99 30 T C 21860814 182 126 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATACTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003302 22003303 22003303 exon -15 0.858585858585859 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATACTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 435 1006 1 0.999842758966359 0.99992137948318 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0566469825721208 0.0044890297507737 0.999345584273795 0.969353373321733 NA 0.0305680061614472 NA FALSE NA 0.989 0.371 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 1 NA ATT T,C 8.276e-05 8:22003303 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 synonymous_variant 0.516185 0.97467 0.01106 0.706548 0.763056010824309 0 0.999999311353521 TRUE 7.91376e-05 ENSE00000980159_014 ENSE00000980159 014 8 21860689 21860858 + 41 99 30 C G 21860817 183 129 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGGTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 22003305 22003306 22003306 exon -12 0.888888888888889 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGGTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 78 179 0.923828852768231 1 0.961914426384116 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA -0.0195241646596482 0.00464627078441426 0.999345584273795 0.969353373321733 NA -0.00743894693761699 NA FALSE NA 0.996 3.197 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/2 1 NA GCT C,G 8.276e-06 8:22003306 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 missense_variant 4.210812 0.98934 0.22569 0.706548 0.99812169396143 0 0.999999311353521 TRUE NA ENSE00000980159_015 ENSE00000980159 015 8 21860689 21860858 + 41 99 30 C T 21860846 184 158 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCTTGGTGCCAACCC 22003177 22003347 22003334 22003335 22003335 downstr_intron 18 1.62068965517241 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCTTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 77 198 0.998003841215808 0.993394242207664 0.995699041711736 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.054650823787929 -0.00195948700792203 0.999345584273795 0.969353373321733 NA 0.0263456683900035 NA FALSE NA 0 -0.747 . intron_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/1 rs202110245 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCT C,T 3.314e-05 8:22003335 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 intron_variant 0.895549 0.58057 0.00107 0.099367 0.799249052320765 0.0948904 0.999999311353521 TRUE 3.28635e-05 ENSE00000980159_016 ENSE00000980159 016 8 21860689 21860858 + 41 99 30 G A 21860848 185 160 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTAGTGCCAACCC 22003177 22003347 22003336 22003337 22003337 downstr_intron 20 1.68965517241379 TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTAGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC mutant NA NA NA NA NA 335 201 0.994929391694597 0.993906064848851 0.994417728271724 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA 0.0515763742667177 -0.00144766436673471 0.999345584273795 0.969353373321733 NA 0.0250643549499915 NA FALSE NA 0.054 0.426 . intron_variant&non_coding_transcript_variant MODIFIER XPO7 HGNC 14108 ENST00000522015 1/1 1 NA TGG G,A 3.314e-05 8:22003337 XPO7 HGNC Symbol protein_coding 86914 ENSG00000130227 ENSE00000980159 intron_variant 0.851774 0.57458 0.00181 0.099367 0.837376348921981 0.0948904 0.999999311353521 TRUE 5.66604e-05 ENSE00000980159_BRK ENSE00000980159 BRK 8 21860689 21860858 + 41 99 30 A,G; T,T NA NA NA TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCTTATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGCCGAGAGAGCCAGCTCCCTGGTGCCAACCC 22003177 22003347 NA NA NA NA NA NA TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCTTATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGCCGAGAGAGCCAGCTCCCTGGTGCCAACCC TACATTAGGTCACTGCCTGAAATTCTCCATTCCATTTTCAGATGCTGTCCACGGTGCTGAACATCATCATCTTTGAAGACTGTAGGAACCAGTGGTCTATGTCCCGACCACTACTTGGCTTGATATTGCTTAATGAAAAGGTGAGAGAGCCAGCTCCCTGGTGCCAACCC control NA NA NA NA NA 2212 265 0.000221162204264571 0.00312637520504529 0.00167376870465493 0.999457673989846 0.999233494557744 0.943353017427879 0.995353729215586 NA NA -0.943131855223615 -0.99222735401054 0.999345584273795 0.969353373321733 NA -0.967679604617077 NA TRUE NA NA NA NA NA NA XPO7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPO7 NA NA NA ENSG00000130227 ENSE00000980159 NA NA NA NA NA NA NA 0.999999311353521 TRUE NA ENSE00000980222_000 ENSE00000980222 000 8 25257379 25257548 + 48 84 38 NA NA NA NA NA TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 NA NA NA NA NA NA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA natural 18 46 0.993874666614824 0.837146998215952 0.915510832415388 1303 2748 0.994867413598682 0.99882813984808 0.996847776723381 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 0 0 0 0 0.915510832415388 0.996847776723381 0 0 0 FALSE FALSE NA NA NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003481212 NA NA NA NA NA NA NA 0.00134268610814527 FALSE NA ENSE00000980222_001 ENSE00000980222 001 8 25257379 25257548 + 48 84 38 T C 25257392 447 14 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACGCATTCCTATCTGT 25399862 25400032 25399875 25399876 25399876 upstr_intron -35 -0.708333333333333 ACAGATAGGAATGCGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 162 327 0.986926805268338 1 0.993463402634169 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA -0.00794060833034427 0.00117186015192006 0.915510832415388 0.996847776723381 NA -0.00338437408921211 NA FALSE NA 0.002 1.567 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA GTG T,C 8.254e-06 8:25399876 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant 0.32302 0.24357 0.10072 0.078448 0.700683350311217 0.0454286 0.00134268610814527 FALSE 4.94942e-06 ENSE00000980222_002 ENSE00000980222 002 8 25257379 25257548 + 48 84 38 G A 25257393 448 15 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAATACATTCCTATCTGT 25399862 25400032 25399876 25399877 25399877 upstr_intron -34 -0.6875 ACAGATAGGAATGTATTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 1222 1472 0.999246741633097 0.997771699793755 0.998509220713426 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00437932803441488 -0.00105644005432481 0.915510832415388 0.996847776723381 NA 0.00166144399004503 NA FALSE NA 0 0.046 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA TGT G,A 1.651e-05 8:25399877 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant 0.188127 0.15084 0.01908 0.078448 0.633663891536529 0.0454286 0.00134268610814527 FALSE 9.80383e-06 ENSE00000980222_004 ENSE00000980222 004 8 25257379 25257548 + 48 84 38 C G 25257410 450 32 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATCCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399893 25399894 25399894 upstr_intron -17 -0.333333333333333 ACAGATAGGAATGTGTTCTAATTAAAACTTGGATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 851 139 0.996267218102294 1 0.998133609051147 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00139980450361121 0.00117186015192006 0.915510832415388 0.996847776723381 NA 0.00128583232776563 NA FALSE NA 0 -0.235 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA GCA C,G 4.944e-05 8:25399894 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant -0.254284 0.30781 0.08217 0.053691 0.307148612649507 0.0454286 0.00134268610814527 FALSE 4.76059e-05 ENSE00000980222_005 ENSE00000980222 005 8 25257379 25257548 + 48 84 38 A G 25257411 451 33 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATACGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399894 25399895 25399895 upstr_intron -16 -0.3125 ACAGATAGGAATGTGTTCTAATTAAAACTTGCGTATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 62 1127 1 0.99996622474101 0.999983112370505 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 0.00113808489292977 0.915510832415388 0.996847776723381 NA 0.00313533564712365 NA FALSE NA 0 -1.263 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA CAT A,G 8.24e-06 8:25399895 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant -0.289404 0.18645 0.03007 0.053691 0.28713983473395 0.0470869 0.00134268610814527 FALSE NA ENSE00000980222_007 ENSE00000980222 007 8 25257379 25257548 + 48 84 38 T C 25257417 453 39 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAGGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399900 25399901 25399901 upstr_intron -10 -0.1875 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCCTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 261 2892 0.99941235671322 0.998497314860652 0.998954835786936 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00454494311453779 -0.000330824987427647 0.915510832415388 0.996847776723381 NA 0.00210705906355507 NA FALSE NA 0.002 0.745 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA CTT T,C 8.241e-06 8:25399901 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant 0.05512 0.26362 0.03363 0.053691 0.629681231392213 0.086982 0.00134268610814527 FALSE NA ENSE00000980222_008 ENSE00000980222 008 8 25257379 25257548 + 48 84 38 T A 25257419 454 41 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAATAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399902 25399903 25399903 upstr_intron -8 -0.145833333333333 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTATTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 1864 132 0.996659322075481 0.997596142931553 0.997127732503517 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00179190847679889 -0.00123199691652709 0.915510832415388 0.996847776723381 NA 0.000279955780135899 NA FALSE NA 0.004 1.915 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 rs375324176 1 NA A:0 A:0.0001 TTT T,A 4.119e-05 8:25399903 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 splice_region_variant 0.120798 0.35602 0.26172 0.053691 0.653436552735472 0.097794 0.00134268610814527 FALSE 3.78527e-05 ENSE00000980222_009 ENSE00000980222 009 8 25257379 25257548 + 48 84 38 A G 25257443 455 65 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACCTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399926 25399927 25399927 exon 17 0.202380952380952 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAGGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 227 164 0.996690311475943 0.999034429167845 0.997862370321894 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00182289787726031 0.000206289319764741 0.915510832415388 0.996847776723381 NA 0.00101459359851253 NA FALSE NA 0.001 1.518 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA AAG A,G 8.237e-06 8:25399927 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 missense_variant 2.204018 0.82129 0.3303 0.638212 0.989897294602642 0 0.00134268610814527 FALSE 8.16727e-06 ENSE00000980222_010 ENSE00000980222 010 8 25257379 25257548 + 48 84 38 C G 25257451 456 73 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTCCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399934 25399935 25399935 exon 25 0.297619047619048 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGGAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 25 376 1 1 1 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 0.00117186015192006 0.915510832415388 0.996847776723381 NA 0.00315222327661879 NA FALSE NA 0.998 1.822 rs137938378 downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 rs137938378 1 G:0.0006 G:0 G:0 NA G:0 G:0.003 G:0 G:0.0009 G:0.0021 GCA C,G 0.0009307 8:25399935 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 missense_variant 1.418936 0.96664 0.87449 0.638212 0.755589489442865 0 0.00134268610814527 FALSE 0.000884249 ENSE00000980222_011 ENSE00000980222 011 8 25257379 25257548 + 48 84 38 A G 25257452 457 74 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCCGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399935 25399936 25399936 exon 26 0.30952380952381 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCGGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 508 450 1 0.994334684409821 0.99716734220491 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 -0.00449345543825941 0.915510832415388 0.996847776723381 NA 0.000319565481529061 NA FALSE NA 1 5.077 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA CAG A,G 8.237e-06 8:25399936 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 missense_variant 4.447829 0.98502 0.93829 0.638212 0.993891661624399 0 0.00134268610814527 FALSE 8.14525e-06 ENSE00000980222_014 ENSE00000980222 014 8 25257379 25257548 + 48 84 38 G C 25257466 460 88 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTGTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399949 25399950 25399950 exon 40 0.476190476190476 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAACACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 355 166 1 1 1 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 0.00117186015192006 0.915510832415388 0.996847776723381 NA 0.00315222327661879 NA FALSE NA 1 7.851 rs150446436 downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 rs150446436 1 NA C:0.0009 C:0 AGA G,C 4.118e-05 8:25399950 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 missense_variant 3.359655 0.97735 0.95825 0.638212 0.986098873365273 0 0.00134268610814527 FALSE 4.06891e-05 ENSE00000980222_015 ENSE00000980222 015 8 25257379 25257548 + 48 84 38 C T 25257468 461 90 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGATCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399951 25399952 25399952 exon 42 0.5 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGATCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 563 39 1 0.8 0.9 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 -0.19882813984808 0.915510832415388 0.996847776723381 NA -0.0968477767233812 NA FALSE NA 1 0.98 rs141714689 downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 rs141714689 1 T:0.0044 T:0.0151 T:0.0014 NA T:0 T:0.001 T:0 T:0.0127 T:0.0001 ACC C,T 0.001235 8:25399952 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 synonymous_variant 1.654223 0.96194 0.73181 0.638212 0.805611462426324 0 0.00134268610814527 FALSE 0.000895168 ENSE00000980222_016 ENSE00000980222 016 8 25257379 25257548 + 48 84 38 G A 25257472 462 94 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTTCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399955 25399956 25399956 exon -39 0.547619047619048 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGAAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 879 245 0.999107037908616 0.991305227729684 0.99520613281915 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00423962430993363 -0.00752291211839573 0.915510832415388 0.996847776723381 NA -0.00164164390423105 NA FALSE NA 1 6.589 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA GGA G,A 8.236e-06 8:25399956 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 missense_variant 4.490998 0.98813 0.95973 0.638212 0.998156434282907 0 0.00134268610814527 FALSE NA ENSE00000980222_017 ENSE00000980222 017 8 25257379 25257548 + 48 84 38 G C 25257474 463 96 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTGTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399957 25399958 25399958 exon -37 0.571428571428571 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGACAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 189 122 1 1 1 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 0.00117186015192006 0.915510832415388 0.996847776723381 NA 0.00315222327661879 NA FALSE NA 0.984 0.165 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA AGA G,C 3.295e-05 8:25399958 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 missense_variant 2.000399 0.95403 0.77066 0.638212 0.972163042917032 0 0.00134268610814527 FALSE 2.84847e-05 ENSE00000980222_018 ENSE00000980222 018 8 25257379 25257548 + 48 84 38 T C 25257480 464 102 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCGACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399963 25399964 25399964 exon -31 0.642857142857143 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTCGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 156 529 0.965028287318404 0.999700918414256 0.98236460286633 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA -0.0298391262802788 0.000872778566175958 0.915510832415388 0.996847776723381 NA -0.0144831738570514 NA FALSE NA 0.013 -0.519 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA TTG T,C 8.236e-06 8:25399964 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 synonymous_variant 0.571422 0.92616 0.31461 0.638212 0.745218401688861 0 0.00134268610814527 FALSE 4.06934e-06 ENSE00000980222_019 ENSE00000980222 019 8 25257379 25257548 + 48 84 38 G A 25257483 465 105 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGTTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399966 25399967 25399967 exon -28 0.678571428571429 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAACTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 1251 2075 0.945187860234317 0.956608066963469 0.950897963598893 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA -0.0496795533643652 -0.0422200728846109 0.915510832415388 0.996847776723381 NA -0.0459498131244881 NA FALSE NA 0.974 0.709 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA AGC G,A 1.647e-05 8:25399967 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 synonymous_variant 1.32162 0.96346 0.78344 0.638212 0.832999140419347 0 0.00134268610814527 FALSE 2.0353e-05 ENSE00000980222_020 ENSE00000980222 020 8 25257379 25257548 + 48 84 38 G A 25257492 466 114 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGTTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25399975 25399976 25399976 exon -19 0.785714285714286 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAACGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 472 1436 1 1 1 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 0.00117186015192006 0.915510832415388 0.996847776723381 NA 0.00315222327661879 NA FALSE NA 0.596 0.765 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA AGC G,A 8.236e-06 8:25399976 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 synonymous_variant 1.510096 0.95274 0.83496 0.638212 0.810663652343624 0 0.00134268610814527 FALSE NA ENSE00000980222_023 ENSE00000980222 023 8 25257379 25257548 + 48 84 38 C A 25257519 469 141 TGGCCTCCCTGGGAGTGTAGAGGAAAGCCTTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25400002 25400003 25400003 downstr_intron 9 1.24324324324324 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGAAGGCTTTCCTCTACACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 69 123 1 1 1 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 0.00117186015192006 0.915510832415388 0.996847776723381 NA 0.00315222327661879 NA FALSE NA 0.002 -0.07 NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25400003 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant 0.568876 0.43012 0.07966 0.053691 0.688527907054601 0.10805 0.00134268610814527 FALSE 4.11797e-06 ENSE00000980222_024 ENSE00000980222 024 8 25257379 25257548 + 48 84 38 A G 25257531 470 153 TGGCCTCCCTGGGAGTGCAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25400014 25400015 25400015 downstr_intron 21 1.56756756756757 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTGCACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 365 258 1 1 1 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 0.00117186015192006 0.915510832415388 0.996847776723381 NA 0.00315222327661879 NA FALSE NA 0 -0.387 rs3763520 downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 rs3763520 1 A:0.4908 G:0.2042 G:0.6225 NA G:0.6339 G:0.6332 G:0.5849 G:0.2812 G:0.632 TAC A,G 0.59 8:25400015 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant -0.019853 0.17428 0.00288 0.053691 0.382194133483766 0.053418 0.00134268610814527 FALSE 0.600466 ENSE00000980222_025 ENSE00000980222 025 8 25257379 25257548 + 48 84 38 C T 25257532 471 154 TGGCCTCCCTGGGAGTATAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25400015 25400016 25400016 downstr_intron 22 1.59459459459459 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTATACTCCCAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 304 426 1 0.998920719617645 0.999460359808823 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00513258640131753 9.25797695653374e-05 0.915510832415388 0.996847776723381 NA 0.00261258308544143 NA FALSE NA 0 -0.694 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1 NA ACA C,T 2.471e-05 8:25400016 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant 0.319641 0.28072 0.07897 0.053691 0.435532399687728 0.053418 0.00134268610814527 FALSE 2.08075e-05 ENSE00000980222_026 ENSE00000980222 026 8 25257379 25257548 + 48 84 38 C T 25257538 472 160 TGGCCTCCCTAGGAGTGTAGAGGAAAGCCGTCCTGTACCTGTAATGCTATTAGTCGCTTTAGCAGCTCAACCTTCTCCTGGTCTTCAGGATGCTCCTGCAAGTACTTTTCTGTAAAAAAAGCCTAAAAAAAAGCATATGCAAGTTTTAATTAGAACACATTCCTATCTGT 25399862 25400032 25400021 25400022 25400022 downstr_intron 28 1.75675675675676 ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCTAGGGAGGCCA ACAGATAGGAATGTGTTCTAATTAAAACTTGCATATGCTTTTTTTTAGGCTTTTTTTACAGAAAAGTACTTGCAGGAGCATCCTGAAGACCAGGAGAAGGTTGAGCTGCTAAAGCGACTAATAGCATTACAGGTACAGGACGGCTTTCCTCTACACTCCCAGGGAGGCCA mutant NA NA NA NA NA 501 11 0.996927025963039 1 0.99846351298152 0.993874666614824 0.837146998215952 0.994867413598682 0.99882813984808 NA NA 0.00205961236435681 0.00117186015192006 0.915510832415388 0.996847776723381 NA 0.00161573625813843 NA FALSE NA 0 -5.319 . downstream_gene_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 rs548378694 1 NA CCA C,T 8.238e-06 8:25400022 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003481212 intron_variant -0.400987 0.14044 0.01908 0.053691 0.540246301382431 0.0533643 0.00134268610814527 FALSE NA ENSE00000980705_000 ENSE00000980705 000 8 67049288 67049457 + 42 96 32 NA NA NA NA NA GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 NA NA NA NA NA NA GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC natural 44 92 0.981031043536881 0.9361337241939 0.958582383865391 2956 1696 0.990115245561152 0.962763799381264 0.976439522471208 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 0 0 0 0 0.958582383865391 0.976439522471208 0 0 0 FALSE FALSE NA NA NA NA NA TRIM55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM55 NA NA NA ENSG00000147573 ENSE00000980705 NA NA NA NA NA NA NA 0.000207996390208794 FALSE NA ENSE00000980705_003 ENSE00000980705 003 8 67049288 67049457 + 42 96 32 G T 67049308 1352 21 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAAACCAATATCTTAGGGGTTTCC 66137052 66137222 66137072 66137073 66137073 upstr_intron -22 -0.5 GGAAACCCCTAAGATATTGGTTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 18 167 1 1 1 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA 0.00988475443884806 0.0372362006187364 0.958582383865391 0.976439522471208 NA 0.0235604775287923 NA FALSE NA 0 -0.33 . intron_variant MODIFIER TRIM55 HGNC 14215 ENST00000276573 3/10 1 NA GGT G,T 8.236e-06 8:66137073 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 intron_variant -0.265929 0.20929 0.07088 0.06567 0.561644732533436 0.0796424 0.000207996390208794 FALSE NA ENSE00000980705_004 ENSE00000980705 004 8 67049288 67049457 + 42 96 32 G A 67049314 1353 27 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAATATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137078 66137079 66137079 upstr_intron -16 -0.357142857142857 GGAAACCCCTAAGATATTGGGTTCATATTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 1234 418 0.958915383483981 0.928492655526039 0.94370401950501 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA -0.0311998620771705 -0.0342711438552247 0.958582383865391 0.976439522471208 NA -0.0327355029661976 NA FALSE NA 0.29 -0.208 . intron_variant MODIFIER TRIM55 HGNC 14215 ENST00000276573 3/10 1 NA TGT G,A 2.471e-05 8:66137079 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 intron_variant 0.291506 0.91558 0.20515 0.06567 0.576693269112974 0.27674 0.000207996390208794 FALSE 1.22475e-05 ENSE00000980705_009 ENSE00000980705 009 8 67049288 67049457 + 42 96 32 G A 67049351 1358 64 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGTGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137115 66137116 66137116 exon 22 0.229166666666667 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCACCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 427 721 0.999903582413055 0.868066906749455 0.933985244581255 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA 0.00978833685190317 -0.0946968926318088 0.958582383865391 0.976439522471208 NA -0.0424542778899528 NA FALSE NA 1 5.521 . missense_variant MODERATE TRIM55 HGNC 14215 ENST00000276573 4/11 rs372993762 1 deleterious(0.02) possibly_damaging(0.8) NA CGC G,A 8.236e-06 8:66137116 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 missense_variant 5.655168 0.9868 0.96782 0.497415 0.999258039484434 0 0.000207996390208794 FALSE 8.13154e-06 ENSE00000980705_010 ENSE00000980705 010 8 67049288 67049457 + 42 96 32 A G 67049354 1359 67 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGACGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137118 66137119 66137119 exon 25 0.260416666666667 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCGTCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 261 837 1 0.998756816474073 0.999378408237037 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA 0.00988475443884806 0.0359930170928097 0.958582383865391 0.976439522471208 NA 0.0229388857658289 NA FALSE NA 0.955 2.106 . missense_variant MODERATE TRIM55 HGNC 14215 ENST00000276573 4/11 1 tolerated(1) benign(0.001) NA CAT A,G 8.236e-06 8:66137119 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 missense_variant -0.52856 0.94739 0.44055 0.497415 0.75246579338615 0 0.000207996390208794 FALSE 4.06369e-06 ENSE00000980705_011 ENSE00000980705 011 8 67049288 67049457 + 42 96 32 T C 67049355 1360 68 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGGTGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137119 66137120 66137120 exon 26 0.270833333333333 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCACCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 526 42 0.931464786896548 1 0.965732393448274 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA -0.0586504586646039 0.0372362006187364 0.958582383865391 0.976439522471208 NA -0.0107071290229337 NA FALSE NA 0.979 5.04 . missense_variant MODERATE TRIM55 HGNC 14215 ENST00000276573 4/11 1 tolerated(0.19) benign(0.009) NA ATC T,C 8.236e-06 8:66137120 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 missense_variant 1.81476 0.97623 0.95798 0.497415 0.948632028199086 0 0.000207996390208794 FALSE 8.12737e-06 ENSE00000980705_012 ENSE00000980705 012 8 67049288 67049457 + 42 96 32 C A 67049356 1361 69 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGTATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137120 66137121 66137121 exon 27 0.28125 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATACTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 1089 183 0.998190050735909 1 0.999095025367954 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA 0.00807480517475667 0.0372362006187364 0.958582383865391 0.976439522471208 NA 0.0226555028967466 NA FALSE NA 0.099 0.097 . synonymous_variant LOW TRIM55 HGNC 14215 ENST00000276573 4/11 1 NA TCC C,A 8.236e-06 8:66137121 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 synonymous_variant 2.54757 0.94658 0.68262 0.497415 0.808064969661896 0 0.000207996390208794 FALSE 4.06375e-06 ENSE00000980705_014 ENSE00000980705 014 8 67049288 67049457 + 42 96 32 G A 67049360 1363 73 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCATGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137124 66137125 66137125 exon 31 0.322916666666667 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCATGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 305 93 0.833078923380899 0.8 0.81653946169045 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA -0.157036322180253 -0.162763799381264 0.958582383865391 0.976439522471208 NA -0.159900060780758 NA FALSE NA 1 9.839 . missense_variant MODERATE TRIM55 HGNC 14215 ENST00000276573 4/11 rs373739027 1 deleterious(0) possibly_damaging(0.796) NA A:0 A:0.0001 CGT G,A 1.647e-05 8:66137125 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 missense_variant 6.806165 0.99472 0.99276 0.497415 0.999139969318202 0 0.000207996390208794 FALSE 2.84465e-05 ENSE00000980705_017 ENSE00000980705 017 8 67049288 67049457 + 42 96 32 C A 67049371 1366 84 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCTTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137135 66137136 66137136 exon 42 0.4375 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAAAGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 53 58 0.946863283413571 0.814994014812057 0.880928649112814 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA -0.0432519621475814 -0.147769784569206 0.958582383865391 0.976439522471208 NA -0.0955108733583938 NA FALSE NA 0.012 -0.823 NA NA NA TRIM55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:66137136 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 missense_variant 5.705565 0.92338 0.26158 0.497415 0.995517859229186 0 0.000207996390208794 FALSE 8.12632e-06 ENSE00000980705_019 ENSE00000980705 019 8 67049288 67049457 + 42 96 32 G A 67049376 1368 89 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTTGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137140 66137141 66137141 exon 47 0.489583333333333 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCAAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 209 716 0.954042415360341 0.962427333206793 0.958234874283567 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA -0.0360728302008112 -0.000336466174471028 0.958582383865391 0.976439522471208 NA -0.0182046481876411 NA FALSE NA 1 9.839 . missense_variant MODERATE TRIM55 HGNC 14215 ENST00000276573 4/11 rs367577432 1 deleterious(0) benign(0.092) NA A:0.0002 A:0 CGA G,A 2.471e-05 8:66137141 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 missense_variant 6.560581 0.99472 0.99276 0.497415 0.999519710850536 0 0.000207996390208794 FALSE 2.03151e-05 ENSE00000980705_020 ENSE00000980705 020 8 67049288 67049457 + 42 96 32 G A 67049383 1369 96 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCTTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137147 66137148 66137148 exon -43 0.5625 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAAGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 53 244 1 1 1 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA 0.00988475443884806 0.0372362006187364 0.958582383865391 0.976439522471208 NA 0.0235604775287923 NA FALSE NA 1 2.089 . synonymous_variant LOW TRIM55 HGNC 14215 ENST00000276573 4/11 1 NA AGG G,A 8.236e-06 8:66137148 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 synonymous_variant 1.021125 0.97686 0.8754 0.497415 0.861806964785824 0 0.000207996390208794 FALSE 4.06306e-06 ENSE00000980705_025 ENSE00000980705 025 8 67049288 67049457 + 42 96 32 A T 67049417 1374 130 GGTTGAGACGCTGTGGGAGTCACCTGACTCACCTCGATAGATTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137181 66137182 66137182 exon -9 0.916666666666667 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAATCTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 24 20 0.998272545955761 1 0.999136272977881 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA 0.00815730039460927 0.0372362006187364 0.958582383865391 0.976439522471208 NA 0.0226967505066729 NA FALSE NA 0.015 2.558 . missense_variant MODERATE TRIM55 HGNC 14215 ENST00000276573 4/11 1 tolerated(0.15) benign(0.059) NA AAC A,T 8.237e-06 8:66137182 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 missense_variant 1.617393 0.97702 0.47059 0.486886 0.979951050247992 0 0.000207996390208794 FALSE 4.06607e-06 ENSE00000980705_027 ENSE00000980705 027 8 67049288 67049457 + 42 96 32 A G 67049429 1376 142 GGTTGAGACGCTGTGGGAGTCACCTGACCCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137193 66137194 66137194 downstr_intron 4 1.12903225806452 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGGGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 646 103 0.800403884614 0.8 0.800201942307 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA -0.189711360947152 -0.162763799381264 0.958582383865391 0.976439522471208 NA -0.176237580164208 NA FALSE NA 1 1.833 . splice_region_variant&intron_variant LOW TRIM55 HGNC 14215 ENST00000276573 4/10 1 NA GAG A,G 8.237e-06 8:66137194 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 splice_region_variant 1.181674 0.98721 0.90568 0.077785 0.883936462096981 0.97438 0.000207996390208794 FALSE 4.07548e-06 ENSE00000980705_028 ENSE00000980705 028 8 67049288 67049457 + 42 96 32 A G 67049433 1377 146 GGTTGAGACGCTGTGGGAGTCACCCGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137197 66137198 66137198 downstr_intron 8 1.25806451612903 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCGGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 774 257 0.998770636108465 0.974556348373695 0.98666349224108 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA 0.00865539054731279 0.0117925489924317 0.958582383865391 0.976439522471208 NA 0.0102239697698722 NA FALSE NA 0.003 -0.136 . splice_region_variant&intron_variant LOW TRIM55 HGNC 14215 ENST00000276573 4/10 1 NA CAG A,G 1.647e-05 8:66137198 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 splice_region_variant 0.059034 0.23862 0.04812 0.077785 0.496245085242548 0.213349 0.000207996390208794 FALSE 8.15907e-06 ENSE00000980705_029 ENSE00000980705 029 8 67049288 67049457 + 42 96 32 C G 67049441 1378 154 GGTTGAGACGCTGTGGCAGTCACCTGACTCACCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGACTAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 66137205 66137206 66137206 downstr_intron 16 1.51612903225806 GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTGCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC mutant NA NA NA NA NA 776 305 0.999255166857669 1 0.999627583428835 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA 0.00913992129651708 0.0372362006187364 0.958582383865391 0.976439522471208 NA 0.0231880609576268 NA FALSE NA 0 -0.214 . intron_variant MODIFIER TRIM55 HGNC 14215 ENST00000276573 4/10 rs371774548 1 NA G:0 G:0.0001 TCC C,G 8.237e-06 8:66137206 TRIM55 HGNC Symbol protein_coding 48591 ENSG00000147573 ENSE00000980705 intron_variant 0.171145 0.26429 0.08165 0.077785 0.640857555707675 0.0498312 0.000207996390208794 FALSE 4.09423e-06 ENSE00000980705_BRK ENSE00000980705 BRK 8 67049288 67049457 + 42 96 32 A,G; T,T NA NA NA GGTTGAGACGCTGTGGGAGTCACCTGACTCGGCTCGATAGTTTTGCAGGTGTCTTCCAGCTGGCTGATCACTCCCTGGACTCGATCGTTGCTGCCCACGAGGATGGCGATGCCATCACTGAGCTCAGAAAAATGAAGAGAAAACATGAACCCAATATCTTAGGGGTTTCC 66137052 66137222 NA NA NA NA NA NA GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTTTTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGCCGAGTCAGGTGACTCCCACAGCGTCTCAACC GGAAACCCCTAAGATATTGGGTTCATGTTTTCTCTTCATTAGTCTGAGCTCAGTGATGGCATCGCCATCCTCGTGGGCAGCAACGATCGAGTCCAGGGAGTGATCAGCCAGCTGGAAGACACCTGCAAAACTATCGAGGTGAGTCAGGTGACTCCCACAGCGTCTCAACC control NA NA NA NA NA 337 1163 0.0775043345028966 0 0.0387521672514483 0.981031043536881 0.9361337241939 0.990115245561152 0.962763799381264 NA NA -0.912610911058255 -0.962763799381264 0.958582383865391 0.976439522471208 NA -0.937687355219759 NA TRUE NA NA NA NA NA NA TRIM55 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM55 NA NA NA ENSG00000147573 ENSE00000980705 NA NA NA NA NA NA NA 0.000207996390208794 FALSE NA ENSE00000981027_000 ENSE00000981027 000 8 101008645 101008814 - 45 69 56 NA NA NA NA NA TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 NA NA NA NA NA NA TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG natural 15 21 0.996053910288464 0.997801821540141 0.996927865914302 4222 2146 0.962476803975292 0.987619555740567 0.97504817985793 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 0 0 0 0 0.996927865914302 0.97504817985793 0 0 0 FALSE FALSE NA NA NA NA NA RGS22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS22 NA NA NA ENSG00000132554 ENSE00003545460 NA NA NA NA NA NA NA 1.18909888570947e-20 FALSE NA ENSE00000981027_001 ENSE00000981027 001 8 101008645 101008814 - 45 69 56 T A 101008656 1781 159 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTATGTTTTGCTCTG 99996416 99996586 99996427 99996428 99996428 downstr_intron 34 1.77272727272727 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTATGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 182 294 1 1 1 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0249518201420702 NA FALSE NA 0 -0.073 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 18/25 rs536214230 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CTT T,A 8.28e-06 8:99996428 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 intron_variant 0.644236 0.18318 0.05955 0.053691 0.741068071148282 0.0937141 1.18909888570947e-20 FALSE 4.10536e-06 ENSE00000981027_002 ENSE00000981027 002 8 101008645 101008814 - 45 69 56 A G 101008658 1782 157 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGCAAGTTTTGCTCTG 99996416 99996586 99996429 99996430 99996430 downstr_intron 32 1.72727272727273 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGCAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 167 490 1 1 1 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0249518201420702 NA FALSE NA 0 -0.222 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 18/25 1 NA TAC A,G 8.28e-06 8:99996430 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 intron_variant 0.372105 0.18997 0.03024 0.053691 0.67111479529496 0.0937141 1.18909888570947e-20 FALSE 4.10179e-06 ENSE00000981027_003 ENSE00000981027 003 8 101008645 101008814 - 45 69 56 C A 101008659 1783 156 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTTTAAGTTTTGCTCTG 99996416 99996586 99996430 99996431 99996431 downstr_intron 31 1.70454545454545 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTTTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 608 2779 1 0.998174496719087 0.999087248359543 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0105549409785193 0.996927865914302 0.97504817985793 NA 0.0240390685016135 NA FALSE NA 0 -1.586 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 18/25 1 NA ACA C,A 8.28e-06 8:99996431 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 intron_variant 0.101119 0.12361 0.00972 0.053691 0.721677894560155 0.0937141 1.18909888570947e-20 FALSE 4.1058e-06 ENSE00000981027_006 ENSE00000981027 006 8 101008645 101008814 - 45 69 56 T C 101008682 1786 133 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAGTGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996453 99996454 99996454 downstr_intron 8 1.18181818181818 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAGTGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 1464 528 0.999859364298642 0.928161856124729 0.964010610211686 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.03738256032335 -0.0594576996158379 0.996927865914302 0.97504817985793 NA -0.011037569646244 NA FALSE NA 0.001 -0.233 . splice_region_variant&intron_variant LOW RGS22 HGNC 24499 ENST00000523287 18/25 1 NA ATT T,C 3.312e-05 8:99996454 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 splice_region_variant 0.217659 0.17202 0.03568 0.053691 0.592089567191078 0.161651 1.18909888570947e-20 FALSE 1.62918e-05 ENSE00000981027_008 ENSE00000981027 008 8 101008645 101008814 - 45 69 56 T G 101008687 1788 128 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCCAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996458 99996459 99996459 downstr_intron 3 1.06818181818182 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCCAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 311 65 0.95868721882745 0.95 0.954343609413725 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA -0.00378958514784256 -0.0376195557405674 0.996927865914302 0.97504817985793 NA -0.020704570444205 NA FALSE NA 1 3.072 . splice_region_variant&intron_variant LOW RGS22 HGNC 24499 ENST00000523287 18/25 1 NA TTG T,G 8.279e-06 8:99996459 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 splice_region_variant 2.085297 0.98704 0.93478 0.053691 0.973548716774971 0.948858 1.18909888570947e-20 FALSE 4.0706e-06 ENSE00000981027_009 ENSE00000981027 009 8 101008645 101008814 - 45 69 56 C A 101008698 1789 117 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGTTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996469 99996470 99996470 exon -9 0.884057971014493 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGTTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 608 642 0.996642970140064 1 0.998321485070032 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0341661661647721 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0232733052121024 NA FALSE NA 0.037 0.105 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 18/26 1 tolerated(0.1) probably_damaging(0.998) NA ACC C,A 8.279e-06 8:99996470 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 missense_variant 5.811838 0.88875 0.12536 0.487112 0.995900456816929 0 1.18909888570947e-20 FALSE 4.06858e-06 ENSE00000981027_010 ENSE00000981027 010 8 101008645 101008814 - 45 69 56 C T 101008701 1790 114 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCAGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996472 99996473 99996473 exon -12 0.840579710144927 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCAGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 1041 199 0.997599009051653 0.909436891241856 0.953517950146754 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0351222050763605 -0.0781826644987118 0.996927865914302 0.97504817985793 NA -0.0215302297111756 NA FALSE NA 0.392 3.059 rs181164225 missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 18/26 rs181164225 1 tolerated(1) benign(0.056) T:0.0004 T:0 T:0.0014 NA T:0 T:0.001 T:0 T:0 T:0.0026 CCG C,T 0.002004 8:99996473 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 missense_variant 3.32064 0.91081 0.38859 0.487112 0.971632238590359 0 1.18909888570947e-20 FALSE 0.00201806 ENSE00000981027_012 ENSE00000981027 012 8 101008645 101008814 - 45 69 56 C T 101008713 1792 102 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTAAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996484 99996485 99996485 exon -24 0.666666666666667 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTAAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 310 275 0.995021986020668 0.99942446543832 0.997223225729494 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0325451820453763 0.0118049096977525 0.996927865914302 0.97504817985793 NA 0.0221750458715644 NA FALSE NA 1 2.616 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 18/26 1 tolerated(0.31) benign(0.397) NA TCA C,T 1.656e-05 8:99996485 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 missense_variant 2.243569 0.97211 0.80792 0.487112 0.95611625938775 0 1.18909888570947e-20 FALSE 8.13623e-06 ENSE00000981027_013 ENSE00000981027 013 8 101008645 101008814 - 45 69 56 A G 101008714 1793 101 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCCGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996485 99996486 99996486 exon -25 0.652173913043478 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCCGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 127 1220 1 0.998647270345746 0.999323635172873 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0110277146051785 0.996927865914302 0.97504817985793 NA 0.0242754553149431 NA FALSE NA 0.996 0.679 . synonymous_variant LOW RGS22 HGNC 24499 ENST00000523287 18/26 1 NA CAG A,G 8.28e-06 8:99996486 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 synonymous_variant -0.109922 0.90801 0.54622 0.487112 0.466742238359897 0 1.18909888570947e-20 FALSE 4.06825e-06 ENSE00000981027_014 ENSE00000981027 014 8 101008645 101008814 - 45 69 56 T C 101008721 1794 94 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACGGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996492 99996493 99996493 exon -32 0.550724637681159 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACGGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 346 277 1 0.99942862406389 0.999714312031945 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0118090683233227 0.996927865914302 0.97504817985793 NA 0.0246661321740153 NA FALSE NA 1 3.04 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 18/26 1 deleterious(0.02) probably_damaging(0.986) NA CTG T,C 8.28e-06 8:99996493 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 missense_variant 4.599128 0.98641 0.93068 0.487112 0.989680634952621 0 1.18909888570947e-20 FALSE 4.06779e-06 ENSE00000981027_015 ENSE00000981027 015 8 101008645 101008814 - 45 69 56 A G 101008742 1795 73 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACACAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996513 99996514 99996514 exon 17 0.246376811594203 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACACAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 165 242 0.999750318622095 1 0.999875159311047 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0372735146468023 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0248269794531175 NA FALSE NA 0.998 1.863 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 18/26 1 deleterious(0.03) benign(0.273) NA TAT A,G 8.28e-06 8:99996514 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 missense_variant 3.795146 0.9499 0.7375 0.487112 0.964363649968522 0 1.18909888570947e-20 FALSE 4.06875e-06 ENSE00000981027_018 ENSE00000981027 018 8 101008645 101008814 - 45 69 56 A T 101008751 1798 64 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGAAGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996522 99996523 99996523 exon 8 0.115942028985507 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGAAGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 129 283 1 1 1 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0249518201420702 NA FALSE NA 1 5.021 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 18/26 1 deleterious(0) benign(0.075) NA CAT A,T 8.28e-06 8:99996523 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 missense_variant 4.067741 0.98622 0.97257 0.487112 0.975334854486672 0 1.18909888570947e-20 FALSE NA ENSE00000981027_020 ENSE00000981027 020 8 101008645 101008814 - 45 69 56 A T 101008764 1800 51 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCATTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996535 99996536 99996536 upstr_intron -6 -0.0892857142857143 TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCATTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 438 38 1 1 1 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0249518201420702 NA FALSE NA 1 1.184 . splice_region_variant&intron_variant LOW RGS22 HGNC 24499 ENST00000523287 17/25 1 NA AAG A,T 8.281e-06 8:99996536 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 splice_region_variant 0.837989 0.95504 0.89569 0.053691 0.760591499033555 0.277057 1.18909888570947e-20 FALSE 8.22625e-06 ENSE00000981027_025 ENSE00000981027 025 8 101008645 101008814 - 45 69 56 A T 101008791 1805 24 TGATTTCAAGCCTTTAGTCTGAAAAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996562 99996563 99996563 upstr_intron -33 -0.571428571428571 TGATTTCAAGCCTTTAGTCTGAAAAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 75 522 0.973113391891509 1 0.986556695945754 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0106365879162165 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0115085160878245 NA FALSE NA 0.019 0.404 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 17/25 1 NA TAT A,T 8.283e-06 8:99996563 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 intron_variant 0.910914 0.19516 0.02328 0.053691 0.836508493419061 0.0443366 1.18909888570947e-20 FALSE 4.14384e-06 ENSE00000981027_026 ENSE00000981027 026 8 101008645 101008814 - 45 69 56 A C 101008795 1806 20 TGATTTCAAGCCTTTAGTCGGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996566 99996567 99996567 upstr_intron -37 -0.642857142857143 TGATTTCAAGCCTTTAGTCGGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 237 52 0.98001125076163 1 0.990005625380815 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0175344467863375 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0149574455228851 NA FALSE NA 0.049 4.228 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 17/25 1 NA CAG A,C 8.283e-06 8:99996567 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 intron_variant 1.282313 0.34752 0.79253 0.053691 0.845923878384997 0.0443366 1.18909888570947e-20 FALSE 4.29026e-06 ENSE00000981027_027 ENSE00000981027 027 8 101008645 101008814 - 45 69 56 T G 101008799 1807 16 TGATTTCAAGCCTTTCGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996570 99996571 99996571 upstr_intron -41 -0.714285714285714 TGATTTCAAGCCTTTCGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 749 349 0.992943244683242 1 0.996471622341621 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0304664407079496 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0214234424836911 NA FALSE NA 0 -0.081 rs186660073 intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 17/25 rs186660073 1 G:0.0006 G:0 G:0 NA G:0.003 G:0 G:0 CTA T,G 0.0001243 8:99996571 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 intron_variant 1.45159 0.1626 0.07205 0.053691 0.859177789281675 0.0443366 1.18909888570947e-20 FALSE 0.000137057 ENSE00000981027_028 ENSE00000981027 028 8 101008645 101008814 - 45 69 56 G C 101008803 1808 12 TGATTTCAAGCGTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996574 99996575 99996575 upstr_intron -45 -0.785714285714286 TGATTTCAAGCGTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 62 558 1 0.99993176891175 0.999965884455875 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0123122131711828 0.996927865914302 0.97504817985793 NA 0.0249177045979453 NA FALSE NA 0 -0.731 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 17/25 1 NA AGG G,C 8.283e-06 8:99996575 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 intron_variant 0.776899 0.16306 0.06276 0.053691 0.804644599370278 0.0443366 1.18909888570947e-20 FALSE 8.72661e-06 ENSE00000981027_029 ENSE00000981027 029 8 101008645 101008814 - 45 69 56 G C 101008804 1809 11 TGATTTCAAGGCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 99996575 99996576 99996576 upstr_intron -46 -0.803571428571429 TGATTTCAAGGCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG mutant NA NA NA NA NA 142 92 1 1 1 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0249518201420702 NA FALSE NA 0.009 1.612 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 17/25 1 NA GGC G,C 8.283e-06 8:99996576 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003545460 intron_variant 0.602664 0.27787 0.05367 0.053691 0.807141634737989 0.0443366 1.18909888570947e-20 FALSE 4.38735e-06 ENSE00000981027_BRK ENSE00000981027 BRK 8 101008645 101008814 - 45 69 56 A,G; T,T NA NA NA TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCTTGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGCCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG 99996416 99996586 NA NA NA NA NA NA TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCTTGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGCCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG TGATTTCAAGCCTTTAGTCTGAATAACTGGGATAAAATAATTGGTTTTGCTTTCAGGTACAGATGAAAGACATAGCAGAAGAGCTCTTACTACAGAAGGCTGAAAAGAAAATCGGGGTCTGGAAGGCAAGTAATGTTTGTTATATTCTTCCTCTTGTAAGTTTTGCTCTG control NA NA NA NA NA 40 56 1 1 1 0.996053910288464 0.997801821540141 0.962476803975292 0.987619555740567 NA NA 0.0375231960247078 0.0123804442594326 0.996927865914302 0.97504817985793 NA 0.0249518201420702 NA FALSE NA NA NA NA NA NA RGS22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS22 NA NA NA ENSG00000132554 ENSE00003545460 NA NA NA NA NA NA NA 1.18909888570947e-20 FALSE NA ENSE00000982741_000 ENSE00000982741 000 9 72071933 72072102 - 36 87 47 NA NA NA NA NA CAGGGTAGTGTGGTCAAACTTTCTCTTGGTGCATTTTTTCTTCTCAGGCTCCTGAAGGCGAATCTCAGCCAATGACTGAAGTGGATCTCTTCATTTCTACCCAGAGAATCAAAGTGCTGAACGCCGACACACAGGTATCAGCTGGCTTCCACCTTTCCCAGGGTGAAGCT 69457016 69457186 NA NA NA NA NA NA CAGGGTAGTGTGGTCAAACTTTCTCTTGGTGCATTTTTTCTTCTCAGGCTCCTGAAGGCGAATCTCAGCCAATGACTGAAGTGGATCTCTTCATTTCTACCCAGAGAATCAAAGTGCTGAACGCCGACACACAGGTATCAGCTGGCTTCCACCTTTCCCAGGGTGAAGCT CAGGGTAGTGTGGTCAAACTTTCTCTTGGTGCATTTTTTCTTCTCAGGCTCCTGAAGGCGAATCTCAGCCAATGACTGAAGTGGATCTCTTCATTTCTACCCAGAGAATCAAAGTGCTGAACGCCGACACACAGGTATCAGCTGGCTTCCACCTTTCCCAGGGTGAAGCT natural NA NA NA NA NA 1228 573 0.90974629553142 0.997845937390607 0.953796116461013 NA NA 0.90974629553142 0.997845937390607 NA NA 0 0 NA 0.953796116461013 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003683323 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00000982982_000 ENSE00000982982 000 9 86909071 86909240 - 39 81 50 NA NA NA NA NA CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 NA NA NA NA NA NA CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC natural 27 29 0.996053910288464 0.976401467909317 0.986227689098891 377 831 0.994591693817272 0.905828200931556 0.950209947374414 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 0 0 0 0 0.986227689098891 0.950209947374414 0 0 0 FALSE FALSE NA NA NA NA NA RP11-380F14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A3 NA NA NA ENSG00000197506 ENSE00000982982 NA NA NA NA NA NA NA 1.9648660260768e-17 FALSE NA ENSE00000982982_002 ENSE00000982982 002 9 86909071 86909240 - 39 81 50 C G 86909086 711 155 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGCTTATAGGTGTAGAGC 84294155 84294325 84294170 84294171 84294171 downstr_intron 24 1.63157894736842 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGCTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 35 19 1 1 1 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.049790052625586 NA FALSE NA 0.001 0.144 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA ACC C,G 8.236e-06 9:84294171 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 intron_variant 0.378631 0.23164 0.08998 0.084033 0.552269330227573 0.168398 1.9648660260768e-17 FALSE 4.07983e-06 ENSE00000982982_003 ENSE00000982982 003 9 86909071 86909240 - 39 81 50 C T 86909093 712 148 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGAGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294177 84294178 84294178 downstr_intron 17 1.44736842105263 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGAGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 28 34 1 1 1 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.049790052625586 NA FALSE NA 0 -0.917 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA CCC C,T 4.118e-05 9:84294178 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 intron_variant 0.421022 0.18558 0.011 0.084033 0.649749367160241 0.168398 1.9648660260768e-17 FALSE 2.0391e-05 ENSE00000982982_006 ENSE00000982982 006 9 86909071 86909240 - 39 81 50 C T 86909110 715 131 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAAGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294194 84294195 84294195 exon -1 1 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAAGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 15 26 1 1 1 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.049790052625586 NA FALSE NA 1 7.69 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA CCT C,T 8.236e-06 9:84294195 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 splice_region_variant 2.691026 0.99547 0.99581 0.600919 0.940707514959387 0 1.9648660260768e-17 FALSE 4.06898e-06 ENSE00000982982_007 ENSE00000982982 007 9 86909071 86909240 - 39 81 50 C G 86909114 716 127 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTACAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294198 84294199 84294199 exon -5 0.950617283950617 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTACAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 728 33 1 1 1 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.049790052625586 NA FALSE NA 0.986 0.951 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:84294199 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 missense_variant 3.567613 0.97738 0.90686 0.600919 0.872098153246699 0 1.9648660260768e-17 FALSE 4.06818e-06 ENSE00000982982_008 ENSE00000982982 008 9 86909071 86909240 - 39 81 50 C T 86909114 717 127 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAAAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294198 84294199 84294199 exon -5 0.950617283950617 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAAAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 29 19 1 1 1 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.049790052625586 NA FALSE NA 0.986 0.951 NA NA NA RP11-380F14.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A3 NA NA NA ENSG00000197506 ENSE00000982982 missense_variant 2.453998 0.97598 0.86706 0.600919 0.967861388541032 0 1.9648660260768e-17 FALSE 4.06818e-06 ENSE00000982982_010 ENSE00000982982 010 9 86909071 86909240 - 39 81 50 A G 86909124 719 117 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGCGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294208 84294209 84294209 exon -15 0.827160493827161 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGCGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 82 31 0.984701015277504 1 0.992350507638752 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA -0.00989067853976744 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.0421405602643382 NA FALSE NA 1 9.181 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA CAC A,G 8.236e-06 9:84294209 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 missense_variant 6.20835 0.99406 0.99707 0.600919 0.995939167077854 0 1.9648660260768e-17 FALSE 1.22013e-05 ENSE00000982982_013 ENSE00000982982 013 9 86909071 86909240 - 39 81 50 A G 86909150 722 91 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCACGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294234 84294235 84294235 exon -41 0.506172839506173 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCACGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 55 137 1 0.98227813069095 0.991139065345475 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0764499297593942 0.986227689098891 0.950209947374414 NA 0.0409291179710612 NA FALSE NA 1 9.22 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA CAT A,G 2.471e-05 9:84294235 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 missense_variant 5.26127 0.99416 0.9942 0.600919 0.993581782134548 0 1.9648660260768e-17 FALSE 1.62558e-05 ENSE00000982982_015 ENSE00000982982 015 9 86909071 86909240 - 39 81 50 C T 86909176 724 65 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTAGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294260 84294261 84294261 exon 15 0.185185185185185 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTAGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 85 785 1 0.996168343539966 0.998084171769983 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0903401426084096 0.986227689098891 0.950209947374414 NA 0.0478742243955689 NA FALSE NA 0.959 1.507 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA CCA C,T 8.236e-06 9:84294261 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 synonymous_variant 1.427091 0.97835 0.89665 0.600919 0.725592795223601 0 1.9648660260768e-17 FALSE 4.06454e-06 ENSE00000982982_017 ENSE00000982982 017 9 86909071 86909240 - 39 81 50 C T 86909182 726 59 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCAATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294266 84294267 84294267 exon 9 0.111111111111111 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCAATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 415 29 1 0.953699417992064 0.976849708996032 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0478712170605075 0.986227689098891 0.950209947374414 NA 0.0266397616216179 NA FALSE NA 0.007 -1.343 rs11568391 downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 rs11568391 1 T:0.0034 T:0 T:0.0101 NA T:0.0069 T:0.001 T:0.002 T:0.0002 T:0.0003 TCG C,T 0.002545 9:84294267 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 synonymous_variant 1.580413 0.67251 0.02945 0.600919 0.734820679016647 0 1.9648660260768e-17 FALSE 0.00326008 ENSE00000982982_020 ENSE00000982982 020 9 86909071 86909240 - 39 81 50 G A 86909198 729 43 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTTCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294282 84294283 84294283 upstr_intron -8 -0.14 CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTTCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 300 83 1 1 1 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.049790052625586 NA FALSE NA 0 0.006 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA GGA G,A 8.236e-06 9:84294283 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 splice_region_variant -0.253926 0.22402 0.11688 0.084033 0.564028197753257 0.151229 1.9648660260768e-17 FALSE 8.13134e-06 ENSE00000982982_022 ENSE00000982982 022 9 86909071 86909240 - 39 81 50 A G 86909211 731 30 CTGGTGCAGCTGGACCCATCATTAATCCACGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294295 84294296 84294296 upstr_intron -21 -0.4 CTGGTGCAGCTGGACCCATCATTAATCCACGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 191 12 1 1 1 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.049790052625586 NA FALSE NA 0 -0.048 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA CAT A,G 8.236e-06 9:84294296 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 intron_variant -0.061383 0.15572 0.01844 0.057505 0.394862020643306 0.146248 1.9648660260768e-17 FALSE 8.13544e-06 ENSE00000982982_023 ENSE00000982982 023 9 86909071 86909240 - 39 81 50 G A 86909221 732 20 CTGGTGCAGCTGGACCCATTATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294305 84294306 84294306 upstr_intron -31 -0.6 CTGGTGCAGCTGGACCCATTATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 46 82 1 1 1 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0941717990684438 0.986227689098891 0.950209947374414 NA 0.049790052625586 NA FALSE NA 0 -0.957 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA TGA G,A 8.237e-06 9:84294306 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 intron_variant 0.313579 0.22686 0.0373 0.057505 0.609792850466071 0.147704 1.9648660260768e-17 FALSE 8.14266e-06 ENSE00000982982_024 ENSE00000982982 024 9 86909071 86909240 - 39 81 50 A G 86909222 733 19 CTGGTGCAGCTGGACCCACCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC 84294155 84294325 84294306 84294307 84294307 upstr_intron -32 -0.62 CTGGTGCAGCTGGACCCACCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC CTGGTGCAGCTGGACCCATCATTAATCCATGTTTGTTTCTGTCCCCACAGGTCCTGCCGATCGTGGTTTTCTTCAGCACTGTGATGTCCATGCTGTACTACCTGGGACTGATGCAGTGGATTATTAGAAAGGTACTGGGGCTGGGAGGGACTGGGTTATAGGTGTAGAGC mutant NA NA NA NA NA 172 31 1 0.969242764417826 0.984621382208913 0.996053910288464 0.976401467909317 0.994591693817272 0.905828200931556 NA NA 0.00540830618272825 0.0634145634862697 0.986227689098891 0.950209947374414 NA 0.034411434834499 NA FALSE NA 0 -1.179 . downstream_gene_variant MODIFIER RP11-380F14.2 Clone_based_vega_gene NA ENST00000419815 1 NA GAT A,G 8.237e-06 9:84294307 SLC28A3 HGNC Symbol protein_coding 65226 ENSG00000197506 ENSE00000982982 intron_variant -0.018829 0.14446 0.01665 0.057505 0.490425623505499 0.0965606 1.9648660260768e-17 FALSE 4.071e-06 ENSE00000983778_000 ENSE00000983778 000 9 117020758 117020927 + 63 54 53 NA NA NA NA NA GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 NA NA NA NA NA NA GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG natural 51 30 0.999124121567735 0.991264890151503 0.995194505859619 1820 1464 0.944712189571726 0.911539342562621 0.928125766067174 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 0 0 0 0 0.995194505859619 0.928125766067174 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003470199 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00000983778_002 ENSE00000983778 002 9 117020758 117020927 + 63 54 53 C A 117020777 1887 20 GCCCCCCGTGTTGCTCTCAATTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258496 114258497 114258497 upstr_intron -44 -0.682539682539683 GCCCCCCGTGTTGCTCTCAATTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 389 466 0.999363508468755 1 0.999681754234378 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0546513188970288 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0715559881672039 NA FALSE NA 0 0.431 rs111819240 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 rs111819240 1 A:0.0046 A:0.0166 A:0.0014 NA A:0 A:0 A:0 A:0.0313 A:0 ACT C,A 0.002327 9:114258497 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 intron_variant 0.335929 0.18784 0.09413 0.056701 0.673853216609749 0.0998134 0.999999360727437 TRUE 0.00189469 ENSE00000983778_003 ENSE00000983778 003 9 117020758 117020927 + 63 54 53 T G 117020778 1888 21 GCCCCCCGTGTTGCTCTCACGTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258497 114258498 114258498 upstr_intron -43 -0.666666666666667 GCCCCCCGTGTTGCTCTCACGTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 71 294 0.993460570426955 1 0.996730285213478 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0487483808552289 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.068604519146304 NA FALSE NA 0 -0.642 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 rs369987037 1 NA G:0 G:0.0001 CTT T,G 2.475e-05 9:114258498 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 intron_variant 0.392344 0.17838 0.05435 0.056701 0.40775166114702 0.0610091 0.999999360727437 TRUE 0.000150221 ENSE00000983778_005 ENSE00000983778 005 9 117020758 117020927 + 63 54 53 C A 117020792 1890 35 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGACTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258511 114258512 114258512 upstr_intron -29 -0.444444444444444 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGACTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 224 93 1 0.994933301117245 0.997466650558622 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0552878104282737 0.0833939585546238 0.995194505859619 0.928125766067174 NA 0.0693408844914488 NA FALSE NA 0 0.057 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 rs201022180 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GCC C,A 8.242e-06 9:114258512 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 intron_variant 0.122943 0.18695 0.11802 0.056701 0.661518062284307 0.0625597 0.999999360727437 TRUE NA ENSE00000983778_007 ENSE00000983778 007 9 117020758 117020927 + 63 54 53 A C 117020800 1892 43 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCACACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258519 114258520 114258520 upstr_intron -21 -0.317460317460317 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCACACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 76 215 1 0.989831533688332 0.994915766844166 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0552878104282737 0.078292191125711 0.995194505859619 0.928125766067174 NA 0.0667900007769923 NA FALSE NA 0 0.035 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 1 NA AAA A,C 8.239e-06 9:114258520 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 intron_variant 0.217586 0.15212 0.0284 0.056701 0.65428755654345 0.0476782 0.999999360727437 TRUE 1.25934e-05 ENSE00000983778_008 ENSE00000983778 008 9 117020758 117020927 + 63 54 53 T C 117020805 1893 48 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCCTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258524 114258525 114258525 upstr_intron -16 -0.238095238095238 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCCTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 49 68 1 1 1 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0552878104282737 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0718742339328264 NA FALSE NA 0 -0.484 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 rs372385762 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0.0034 C:0 CTT T,C 0.0002389 9:114258525 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 intron_variant -0.394894 0.16166 0.04143 0.062308 0.473342825963133 0.102484 0.999999360727437 TRUE 0.000195329 ENSE00000983778_011 ENSE00000983778 011 9 117020758 117020927 + 63 54 53 C T 117020827 1896 70 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTTCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258546 114258547 114258547 exon 7 0.12962962962963 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTTCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 299 175 1 1 1 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0552878104282737 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0718742339328264 NA FALSE NA 1 0.943 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 25/58 1 NA TCC C,T 8.237e-06 9:114258547 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 missense_variant 3.710289 0.93395 0.72012 0.706298 0.99085328163831 0 0.999999360727437 TRUE 4.09403e-06 ENSE00000983778_012 ENSE00000983778 012 9 117020758 117020927 + 63 54 53 G A 117020837 1897 80 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCAAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258556 114258557 114258557 exon 17 0.314814814814815 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCAAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 301 197 0.996004217722648 1 0.998002108861324 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0512920281509216 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0698763427941503 NA FALSE NA 1 5.401 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 25/58 rs375623515 1 NA A:0 A:0.0001 CGA G,A 3.295e-05 9:114258557 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 missense_variant 4.806188 0.93515 0.88796 0.706298 0.998531787340346 0 0.999999360727437 TRUE 2.86221e-05 ENSE00000983778_013 ENSE00000983778 013 9 117020758 117020927 + 63 54 53 G A 117020848 1898 91 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAAGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258567 114258568 114258568 exon -27 0.518518518518518 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAAGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 67 199 0.969952333917454 0.999808530729746 0.9848804323236 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0252401443457273 0.0882691881671254 0.995194505859619 0.928125766067174 NA 0.0567546662564263 NA FALSE NA 1 5.401 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 25/58 rs542176440 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGG G,A 8.237e-06 9:114258568 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 missense_variant 5.097947 0.94796 0.90809 0.706298 0.998626473462541 0 0.999999360727437 TRUE 4.08574e-06 ENSE00000983778_014 ENSE00000983778 014 9 117020758 117020927 + 63 54 53 G C 117020853 1899 96 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATCAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258572 114258573 114258573 exon -22 0.611111111111111 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATCAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 116 61 0.987891222871894 1 0.993945611435947 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0431790333001679 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0658198453687735 NA FALSE NA 0.993 0.566 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 25/58 1 NA TGA G,C 8.237e-06 9:114258573 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 missense_variant 1.332771 0.88854 0.67901 0.706298 0.909899428596416 0 0.999999360727437 TRUE 4.0849e-06 ENSE00000983778_015 ENSE00000983778 015 9 117020758 117020927 + 63 54 53 C T 117020869 1900 112 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGATGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258588 114258589 114258589 exon -6 0.907407407407407 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGATGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 117 114 1 1 1 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0552878104282737 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0718742339328264 NA FALSE NA 0.325 2.797 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 25/58 1 NA ACG C,T 1.648e-05 9:114258589 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 missense_variant 4.930138 0.91555 0.62934 0.706298 0.999128367274505 0 0.999999360727437 TRUE 8.18264e-06 ENSE00000983778_016 ENSE00000983778 016 9 117020758 117020927 + 63 54 53 G A 117020870 1901 113 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACATCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258589 114258590 114258590 exon -5 0.925925925925926 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACATCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 61 26 1 1 1 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0552878104282737 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0718742339328264 NA FALSE NA 0.035 -0.225 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 25/58 rs368823650&COSM1569453 1 NA A:0 A:0.0001 CGT G,A 7.414e-05 9:114258590 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 missense_variant 2.969867 0.78798 0.17049 0.706298 0.998190990490625 0 0.999999360727437 TRUE 4.09561e-05 ENSE00000983778_019 ENSE00000983778 019 9 117020758 117020927 + 63 54 53 C T 117020881 1904 124 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTTGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258600 114258601 114258601 downstr_intron 7 1.13461538461538 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTTGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 277 348 0.968247603516256 0.995256498410822 0.981752050963539 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0235354139445296 0.0837171558482012 0.995194505859619 0.928125766067174 NA 0.0536262848963654 NA FALSE NA 0 -2.756 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 25/57 1 NA TCG C,T 4.943e-05 9:114258601 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 splice_region_variant 0.301517 0.15656 0.03187 0.062308 0.663986788937369 0.150862 0.999999360727437 TRUE 4.10634e-05 ENSE00000983778_021 ENSE00000983778 021 9 117020758 117020927 + 63 54 53 G T 117020882 1906 125 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCTAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 114258601 114258602 114258602 downstr_intron 8 1.15384615384615 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCTAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 36 321 1 0.995481034881866 0.997740517440933 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0552878104282737 0.0839416923192453 0.995194505859619 0.928125766067174 NA 0.0696147513737595 NA FALSE NA 0 -0.938 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114258602 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 splice_region_variant -0.224636 0.15948 0.06111 0.062308 0.643820892902375 0.138393 0.999999360727437 TRUE NA ENSE00000983778_024 ENSE00000983778 024 9 117020758 117020927 + 63 54 53 G C 117020909 1909 152 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGCTGGGAGGGGGCACACTTG 114258477 114258647 114258628 114258629 114258629 downstr_intron 35 1.67307692307692 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGCTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 469 412 0.997704863715518 0.832604583416754 0.915154723566136 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0529926741437917 -0.0789347591458666 0.995194505859619 0.928125766067174 NA -0.0129710425010374 NA FALSE NA 0.001 0.216 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 25/57 1 NA GGT G,C 1.648e-05 9:114258629 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 intron_variant -0.043859 0.20884 0.10597 0.062308 0.41761354493315 0.110814 0.999999360727437 TRUE 8.41128e-06 ENSE00000983778_025 ENSE00000983778 025 9 117020758 117020927 + 63 54 53 G A 117020911 1910 154 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTAGGAGGGGGCACACTTG 114258477 114258647 114258630 114258631 114258631 downstr_intron 37 1.71153846153846 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTAGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 343 274 0.994057221192353 1 0.997028610596177 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0493450316206266 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0689028445290029 NA FALSE NA 0.002 -0.026 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 25/57 1 NA TGG G,A 8.241e-06 9:114258631 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 intron_variant 0.181693 0.25269 0.05405 0.062308 0.889160306518291 0.110814 0.999999360727437 TRUE NA ENSE00000983778_026 ENSE00000983778 026 9 117020758 117020927 + 63 54 53 G C 117020913 1911 156 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGCAGGGGGCACACTTG 114258477 114258647 114258632 114258633 114258633 downstr_intron 39 1.75 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGCAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 38 71 1 1 1 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0552878104282737 0.0884606574373791 0.995194505859619 0.928125766067174 NA 0.0718742339328264 NA FALSE NA 0.001 -0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114258633 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003470199 intron_variant -0.208568 0.25614 0.04492 0.062308 0.635930443542409 0.110814 0.999999360727437 TRUE 4.23273e-06 ENSE00000983778_027 ENSE00000983778 027 9 117020758 117020927 + 63 54 53 G T 117020913 1912 156 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGTAGGGGGCACACTTG 114258477 114258647 114258632 114258633 114258633 downstr_intron 39 1.75 GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGTAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG mutant NA NA NA NA NA 357 549 0.990860325310998 0.999930649882436 0.995395487596717 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 NA NA 0.0461481357392713 0.0883913073198151 0.995194505859619 0.928125766067174 NA 0.0672697215295432 NA FALSE NA 0.001 -0.08 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003470199 intron_variant -0.067495 0.25474 0.04357 0.062308 0.851664429531952 0.110814 0.999999360727437 TRUE 8.46547e-06 ENSE00000983778_BRK ENSE00000983778 BRK 9 117020758 117020927 + 63 54 53 A,G; T,T NA NA NA GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCTTGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGCCAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG 114258477 114258647 NA NA NA NA NA NA GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCTTGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGCCAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG GCCCCCCGTGTTGCTCTCACTTCCTAAAAAGGGGCCTCTCCAAACTCTTTCTCCTCTTCCCAGGGTCCTCCAGGATCTCGAGGCCCACCAGGCATGAGGGGAGCAAAGGGACGTCGGGTAAGTCGAGCCCAGCTCCTGGGGGCTGATGCTGGTGGGAGGGGGCACACTTG control 110 105 0 0 0 322 73 0.00470080308918384 0.107077235127213 0.0558890191081984 0.999124121567735 0.991264890151503 0.944712189571726 0.911539342562621 -0.999124121567735 -0.991264890151503 -0.940011386482542 -0.804462107435408 0.995194505859619 0.928125766067174 -0.995194505859619 -0.872236746958975 0.122957758900644 TRUE TRUE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003470199 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00000983791_000 ENSE00000983791 000 9 117046941 117047110 + 63 54 53 NA NA NA NA NA GTCCATGTCCTTTGTCCTTCCTGAGTCCTCATTCTCACTTCCCTCCTTCTTGTTTGCCTGCAGGGACACAAAGGCATTGTGGGACCCCTTGGACCTCCTGGACCAAAAGGCGAAAAGGTGGGTGTTTGCTCTGGGGAAAGCAGCTGCACCCTCGTGTCTGAGGCTGAGGT 114284660 114284830 NA NA NA NA NA NA GTCCATGTCCTTTGTCCTTCCTGAGTCCTCATTCTCACTTCCCTCCTTCTTGTTTGCCTGCAGGGACACAAAGGCATTGTGGGACCCCTTGGACCTCCTGGACCAAAAGGCGAAAAGGTGGGTGTTTGCTCTGGGGAAAGCAGCTGCACCCTCGTGTCTGAGGCTGAGGT GTCCATGTCCTTTGTCCTTCCTGAGTCCTCATTCTCACTTCCCTCCTTCTTGTTTGCCTGCAGGGACACAAAGGCATTGTGGGACCCCTTGGACCTCCTGGACCAAAAGGCGAAAAGGTGGGTGTTTGCTCTGGGGAAAGCAGCTGCACCCTCGTGTCTGAGGCTGAGGT natural 27 16 0.998288056708352 0.966866250639107 0.982577153673729 317 1636 0.943072411785475 0.749236322404213 0.846154367094844 0.998288056708352 0.966866250639107 0.943072411785475 0.749236322404213 0 0 0 0 0.982577153673729 0.846154367094844 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003615162 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00000983791_004 ENSE00000983791 004 9 117046941 117047110 + 63 54 53 C T 117046982 1971 42 GTCCATGTCCTTTGTCCTTCCTGAGTCCTCATTCTCACTTCTCTCCTTCTTGTTTGCCTGCAGGGACACAAAGGCATTGTGGGACCCCTTGGACCTCCTGGACCAAAAGGCGAAAAGGTGGGTGTTTGCTCTGGGGAAAGCAGCTGCACCCTCGTGTCTGAGGCTGAGGT 114284660 114284830 114284701 114284702 114284702 upstr_intron -22 -0.333333333333333 GTCCATGTCCTTTGTCCTTCCTGAGTCCTCATTCTCACTTCTCTCCTTCTTGTTTGCCTGCAGGGACACAAAGGCATTGTGGGACCCCTTGGACCTCCTGGACCAAAAGGCGAAAAGGTGGGTGTTTGCTCTGGGGAAAGCAGCTGCACCCTCGTGTCTGAGGCTGAGGT GTCCATGTCCTTTGTCCTTCCTGAGTCCTCATTCTCACTTCCCTCCTTCTTGTTTGCCTGCAGGGACACAAAGGCATTGTGGGACCCCTTGGACCTCCTGGACCAAAAGGCGAAAAGGTGGGTGTTTGCTCTGGGGAAAGCAGCTGCACCCTCGTGTCTGAGGCTGAGGT mutant NA NA NA NA NA 73 206 1 0.990821438739175 0.995410719369588 0.998288056708352 0.966866250639107 0.943072411785475 0.749236322404213 NA NA 0.0569275882145249 0.241585116334962 0.982577153673729 0.846154367094844 NA 0.149256352274744 NA FALSE NA 0 -0.956 rs191470106 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 37/57 rs191470106 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCC C,T 8.236e-06 9:114284702 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003615162 intron_variant -0.047063 0.12525 0.01254 0.088506 0.315916478154727 0.0454891 0.999999360727437 TRUE 8.1244e-06 ENSE00000983798_000 ENSE00000983798 000 9 117062287 117062456 + 63 54 53 NA NA NA NA NA GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 NA NA NA NA NA NA GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT natural 68 60 0.995388412291542 0.999825873645861 0.997607142968701 928 457 0.859829722920008 0.990674270405848 0.925251996662928 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 0 0 0 0 0.997607142968701 0.925251996662928 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003493823 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00000983798_001 ENSE00000983798 001 9 117062287 117062456 + 63 54 53 A G 117062299 1992 13 GTGGCTGGCGGGGCACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300018 114300019 114300019 upstr_intron -51 -0.793650793650794 GTGGCTGGCGGGGCACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 664 367 0.969663351678313 0.992162817312193 0.980913084495253 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.109833628758305 0.00148854690634459 0.997607142968701 0.925251996662928 NA 0.0556610878323247 NA FALSE NA 0 -0.626 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 1 NA GAC A,G 8.236e-06 9:114300019 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant 0.187739 0.08336 0.00145 0.062308 0.473932306517379 0.0696768 0.999999360727437 TRUE NA ENSE00000983798_003 ENSE00000983798 003 9 117062287 117062456 + 63 54 53 G A 117062303 1994 17 GTGGCTGGCGGGACACACTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300022 114300023 114300023 upstr_intron -47 -0.73015873015873 GTGGCTGGCGGGACACACTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 24 130 0.99651924014787 1 0.998259620073935 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.136689517227862 0.00932572959415201 0.997607142968701 0.925251996662928 NA 0.073007623411007 NA FALSE NA 0 -0.056 rs183940259 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 rs183940259 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.002 A:0 CGC G,A 0.0001894 9:114300023 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant -0.284254 0.16897 0.01218 0.062308 0.579484780826773 0.0696768 0.999999360727437 TRUE 0.000138528 ENSE00000983798_004 ENSE00000983798 004 9 117062287 117062456 + 63 54 53 A C 117062307 1995 21 GTGGCTGGCGGGACACGCTGCCCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300026 114300027 114300027 upstr_intron -43 -0.666666666666667 GTGGCTGGCGGGACACGCTGCCCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 87 365 0.943170720108796 0.991671982292653 0.967421351200724 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.0833409971887875 0.000997711886804864 0.997607142968701 0.925251996662928 NA 0.0421693545377962 NA FALSE NA 0 -1.091 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 1 NA GAC G,C 8.236e-06 9:114300027 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant -0.228533 0.12027 0.00661 0.062308 0.338795612118862 0.0696768 0.999999360727437 TRUE 4.06825e-06 ENSE00000983798_006 ENSE00000983798 006 9 117062287 117062456 + 63 54 53 G A 117062312 1997 26 GTGGCTGGCGGGACACGCTGACCATAAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300031 114300032 114300032 upstr_intron -38 -0.587301587301587 GTGGCTGGCGGGACACGCTGACCATAAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 39 76 0.948942383692467 1 0.974471191846234 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.0891126607724593 0.00932572959415201 0.997607142968701 0.925251996662928 NA 0.0492191951833056 NA FALSE NA 0 0.441 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 rs376081923 1 NA A:0 A:0.0001 TGA G,A 8.236e-06 9:114300032 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant 0.287953 0.21979 0.05352 0.062308 0.521779905859521 0.0687248 0.999999360727437 TRUE 4.06643e-06 ENSE00000983798_007 ENSE00000983798 007 9 117062287 117062456 + 63 54 53 C A 117062315 1998 29 GTGGCTGGCGGGACACGCTGACCATGAGATCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300034 114300035 114300035 upstr_intron -35 -0.53968253968254 GTGGCTGGCGGGACACGCTGACCATGAGATCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 236 568 0.997888465029462 0.998784780547871 0.998336622788667 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.138058742109454 0.0081105101420228 0.997607142968701 0.925251996662928 NA 0.0730846261257384 NA FALSE NA 0 0.065 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 rs555494787 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GCT C,A 1.647e-05 9:114300035 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant 0.374779 0.15828 0.05601 0.062308 0.720499705963776 0.0696768 0.999999360727437 TRUE 1.62664e-05 ENSE00000983798_008 ENSE00000983798 008 9 117062287 117062456 + 63 54 53 A C 117062318 1999 32 GTGGCTGGCGGGACACGCTGACCATGAGCTCCCTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300037 114300038 114300038 upstr_intron -32 -0.492063492063492 GTGGCTGGCGGGACACGCTGACCATGAGCTCCCTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 861 271 0.998605575841879 0.999436290765597 0.999020933303738 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.138775852921871 0.00876202035974938 0.997607142968701 0.925251996662928 NA 0.0737689366408102 NA FALSE NA 0 0.04 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 1 NA CAC A,C 8.236e-06 9:114300038 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant 0.148399 0.24506 0.05357 0.062308 0.623527219240851 0.0536661 0.999999360727437 TRUE 4.06507e-06 ENSE00000983798_009 ENSE00000983798 009 9 117062287 117062456 + 63 54 53 C T 117062319 2000 33 GTGGCTGGCGGGACACGCTGACCATGAGCTCATTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300038 114300039 114300039 upstr_intron -31 -0.476190476190476 GTGGCTGGCGGGACACGCTGACCATGAGCTCATTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 84 10 0.981488058159693 1 0.990744029079847 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.121658335239685 0.00932572959415201 0.997607142968701 0.925251996662928 NA 0.0654920324169186 NA FALSE NA 0 0.351 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 1 NA ACT C,T 8.236e-06 9:114300039 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant 0.278274 0.23036 0.04056 0.062308 0.689201242931203 0.0536661 0.999999360727437 TRUE 4.06445e-06 ENSE00000983798_010 ENSE00000983798 010 9 117062287 117062456 + 63 54 53 C T 117062321 2001 35 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTTGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300040 114300041 114300041 upstr_intron -29 -0.444444444444444 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTTGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 507 456 1 0.992659709500636 0.996329854750318 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.140170277079992 0.00198543909478754 0.997607142968701 0.925251996662928 NA 0.0710778580873897 NA FALSE NA 0 -0.311 rs77055438 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 rs77055438 1 T:0.0024 T:0.0083 T:0.0014 NA T:0 T:0 T:0 T:0.0059 T:0 TCG C,T 0.0006342 9:114300041 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant -0.197578 0.16236 0.01267 0.062308 0.657208442883954 0.0696768 0.999999360727437 TRUE 0.000451142 ENSE00000983798_012 ENSE00000983798 012 9 117062287 117062456 + 63 54 53 C T 117062326 2003 40 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCTATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300045 114300046 114300046 upstr_intron -24 -0.365079365079365 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCTATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 492 52 1 1 1 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.140170277079992 0.00932572959415201 0.997607142968701 0.925251996662928 NA 0.0747480033370719 NA FALSE NA 0 -0.816 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 46/57 1 NA CCA C,T 4.118e-05 9:114300046 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant 0.529344 0.20316 0.01248 0.062308 0.816187497774271 0.157053 0.999999360727437 TRUE 2.43768e-05 ENSE00000983798_013 ENSE00000983798 013 9 117062287 117062456 + 63 54 53 T A 117062345 2004 59 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCAGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300064 114300065 114300065 upstr_intron -5 -0.0634920634920635 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCAGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 175 172 0.947017782434274 0.940058342756492 0.943538062595383 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.0871880595142654 -0.050615927649356 0.997607142968701 0.925251996662928 NA 0.0182860659324547 NA FALSE NA 0 -0.733 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 46/57 1 NA CTG T,A 8.236e-06 9:114300065 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 splice_region_variant 0.414845 0.22792 0.09315 0.062308 0.713838495089102 0.153303 0.999999360727437 TRUE 4.0618e-06 ENSE00000983798_014 ENSE00000983798 014 9 117062287 117062456 + 63 54 53 C T 117062352 2005 66 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGTGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300071 114300072 114300072 exon 3 0.0555555555555556 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGTGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 1333 312 0.997141305047115 0.991144284758106 0.99414279490261 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.137311582127106 0.00047001435225813 0.997607142968701 0.925251996662928 NA 0.0688907982396822 NA FALSE NA 0.002 -1.847 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 47/58 1 NA GCG C,T 4.118e-05 9:114300072 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 splice_region_variant 1.327789 0.86238 0.03207 0.706298 0.811590298505218 0 0.999999360727437 TRUE 2.84338e-05 ENSE00000983798_015 ENSE00000983798 015 9 117062287 117062456 + 63 54 53 G A 117062353 2006 67 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCAACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300072 114300073 114300073 exon 4 0.0740740740740741 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCAACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 163 220 0.997447554172811 1 0.998723777086405 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.137617831252803 0.00932572959415201 0.997607142968701 0.925251996662928 NA 0.0734717804234775 NA FALSE NA 1 6.051 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 47/58 1 NA CGA G,A 2.471e-05 9:114300073 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 missense_variant 5.177718 0.9868 0.98394 0.706298 0.999065725496099 0 0.999999360727437 TRUE 2.84331e-05 ENSE00000983798_016 ENSE00000983798 016 9 117062287 117062456 + 63 54 53 C G 117062355 2007 69 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGAGTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300074 114300075 114300075 exon 6 0.111111111111111 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGAGTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 520 1548 1 0.999795614542066 0.999897807271033 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.140170277079992 0.00912134413621768 0.997607142968701 0.925251996662928 NA 0.0746458106081048 NA FALSE NA 0.935 0.316 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 47/58 1 NA ACT C,G 2.471e-05 9:114300075 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 missense_variant 2.708262 0.97725 0.88488 0.706298 0.995223241353202 0 0.999999360727437 TRUE 2.03079e-05 ENSE00000983798_017 ENSE00000983798 017 9 117062287 117062456 + 63 54 53 C T 117062357 2008 71 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTTTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300076 114300077 114300077 exon 8 0.148148148148148 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTTTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 615 90 1 1 1 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.140170277079992 0.00932572959415201 0.997607142968701 0.925251996662928 NA 0.0747480033370719 NA FALSE NA 0.983 1.829 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 47/58 1 NA TCT C,T 8.236e-06 9:114300077 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 missense_variant 2.300986 0.97414 0.8702 0.706298 0.981495993100045 0 0.999999360727437 TRUE 4.06177e-06 ENSE00000983798_018 ENSE00000983798 018 9 117062287 117062456 + 63 54 53 C T 117062361 2009 75 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGTGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300080 114300081 114300081 exon 12 0.222222222222222 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGTGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 145 623 0.979219725472122 0.999316478267866 0.989268101869994 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.119390002552114 0.0086422078620183 0.997607142968701 0.925251996662928 NA 0.064016105207066 NA FALSE NA 0 -9.344 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 47/58 1 NA GCG C,T 1.647e-05 9:114300081 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 synonymous_variant 2.199781 0.41566 0.01214 0.706298 0.744445847599235 0 0.999999360727437 TRUE 1.21863e-05 ENSE00000983798_020 ENSE00000983798 020 9 117062287 117062456 + 63 54 53 C T 117062394 2011 108 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTTGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300113 114300114 114300114 exon -10 0.833333333333333 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTTGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 614 1752 0.837877320154859 0.932927922792696 0.885402621473778 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA -0.0219524027651489 -0.0577463476131516 0.997607142968701 0.925251996662928 NA -0.0398493751891502 NA FALSE NA 0.686 -0.223 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 47/58 1 NA TCG C,T 3.295e-05 9:114300114 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 synonymous_variant 2.244597 0.92446 0.12117 0.706298 0.611065608023573 0 0.999999360727437 TRUE 2.03135e-05 ENSE00000983798_022 ENSE00000983798 022 9 117062287 117062456 + 63 54 53 A G 117062406 2013 120 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTGTGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300125 114300126 114300126 downstr_intron 3 1.05769230769231 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTGTGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 58 477 0.764222169445635 0.837199182866432 0.800710676156034 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA -0.0956075534743729 -0.153475087539416 0.997607142968701 0.925251996662928 NA -0.124541320506894 NA FALSE NA 0.997 3.585 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 47/57 1 NA TAT A,G 3.295e-05 9:114300126 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 splice_region_variant 1.317896 0.9887 0.88098 0.099367 0.919879451946983 0.961759 0.999999360727437 TRUE 5.68842e-05 ENSE00000983798_023 ENSE00000983798 023 9 117062287 117062456 + 63 54 53 C A 117062413 2014 127 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTACCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300132 114300133 114300133 downstr_intron 10 1.19230769230769 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTACCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 68 419 1 0.999244345139795 0.999622172569897 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.140170277079992 0.00857007473394678 0.997607142968701 0.925251996662928 NA 0.0743701759069693 NA FALSE NA 0 -1.141 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 47/57 1 NA TCC C,A 8.236e-06 9:114300133 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant 0.143261 0.17471 0.04306 0.099367 0.454914741465677 0.0484296 0.999999360727437 TRUE 4.06478e-06 ENSE00000983798_025 ENSE00000983798 025 9 117062287 117062456 + 63 54 53 C G 117062417 2016 131 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCAGGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300136 114300137 114300137 downstr_intron 14 1.26923076923077 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCAGGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 456 542 0.86942896662217 0.998440141229139 0.933934553925655 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.00959924370216192 0.00776587082329139 0.997607142968701 0.925251996662928 NA 0.00868255726272665 NA FALSE NA 0 -0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114300137 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant -0.257602 0.12698 0.02805 0.099367 0.317885948055434 0.0484296 0.999999360727437 TRUE 8.13173e-06 ENSE00000983798_026 ENSE00000983798 026 9 117062287 117062456 + 63 54 53 C T 117062417 2017 131 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCATGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 114300136 114300137 114300137 downstr_intron 14 1.26923076923077 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCATGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 52 63 1 1 1 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.140170277079992 0.00932572959415201 0.997607142968701 0.925251996662928 NA 0.0747480033370719 NA FALSE NA 0 -0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003493823 intron_variant -0.12612 0.14504 0.03886 0.099367 0.41215572156077 0.0484296 0.999999360727437 TRUE 4.06587e-06 ENSE00000983798_027 ENSE00000983798 027 9 117062287 117062456 + 63 54 53 G T 117062437 2018 151 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGTTCCCATCCATTCACCCCAT 114300006 114300176 114300156 114300157 114300157 downstr_intron 34 1.65384615384615 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGTTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 520 291 1 1 1 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.140170277079992 0.00932572959415201 0.997607142968701 0.925251996662928 NA 0.0747480033370719 NA FALSE NA 0.002 0.673 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114300157 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant -0.056222 0.22842 0.15381 0.099367 0.752352776392307 0.0489983 0.999999360727437 TRUE 1.2267e-05 ENSE00000983798_028 ENSE00000983798 028 9 117062287 117062456 + 63 54 53 G C 117062437 2019 151 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGCTCCCATCCATTCACCCCAT 114300006 114300176 114300156 114300157 114300157 downstr_intron 34 1.65384615384615 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGCTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 324 733 1 0.997304065854656 0.998652032927328 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.140170277079992 0.00662979544880804 0.997607142968701 0.925251996662928 NA 0.0734000362643999 NA FALSE NA 0.002 0.673 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003493823 intron_variant -0.1768 0.23031 0.11771 0.099367 0.632969224653676 0.0489983 0.999999360727437 TRUE 4.08901e-06 ENSE00000983798_029 ENSE00000983798 029 9 117062287 117062456 + 63 54 53 A G 117062446 2020 160 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCGTTCACCCCAT 114300006 114300176 114300165 114300166 114300166 downstr_intron 43 1.82692307692308 GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCGTTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT mutant NA NA NA NA NA 898 719 0.995492353362169 0.997830010797576 0.996661182079873 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA 0.135662630442161 0.00715574039172839 0.997607142968701 0.925251996662928 NA 0.0714091854169446 NA FALSE NA 0 0.618 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 47/57 rs576673286 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAT A,G 1.647e-05 9:114300166 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003493823 intron_variant 0.774169 0.38774 0.1808 0.099367 0.747229592310977 0.857968 0.999999360727437 TRUE 2.50369e-05 ENSE00000983798_BRK ENSE00000983798 BRK 9 117062287 117062456 + 63 54 53 A,G; T,T NA NA NA GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCTTGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGCCATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT 114300006 114300176 NA NA NA NA NA NA GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCTTGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGCCATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT GTGGCTGGCGGGACACGCTGACCATGAGCTCACTCGCTCCATCACTTCCTGTTCTTCCTGCAGGGCGACTCTGGCGAGATGGGCTTCCCAGGAATGGCAGGTCTCTTCGGACCCAAGGTATGGACTCCCACGGCTCACTGTTCCTGTGGGGTCCCATCCATTCACCCCAT control NA NA NA NA NA 244 4663 0 0.00379773269315038 0.00189886634657519 0.995388412291542 0.999825873645861 0.859829722920008 0.990674270405848 NA NA -0.859829722920008 -0.986876537712698 0.997607142968701 0.925251996662928 NA -0.923353130316353 NA TRUE NA NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003493823 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00000983872_000 ENSE00000983872 000 9 116116479 116116648 + 41 99 30 NA NA NA NA NA GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 NA NA NA NA NA NA GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC natural 16 41 1 0.992394295846981 0.996197147923491 450 281 0.9863411390281 0.998890854062956 0.992615996545528 1 0.992394295846981 0.9863411390281 0.998890854062956 0 0 0 0 0.996197147923491 0.992615996545528 0 0 0 FALSE FALSE NA NA NA NA NA BSPRY NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BSPRY NA NA NA ENSG00000119411 ENSE00003521840 NA NA NA NA NA NA NA 9.78555675234067e-05 FALSE NA ENSE00000983872_001 ENSE00000983872 001 9 116116479 116116648 + 41 99 30 A G 116116491 1500 13 GTACATGGACCAGGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 113354210 113354211 113354211 upstr_intron -29 -0.682926829268293 GTACATGGACCAGGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 689 368 1 1 1 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 0.00110914593704436 0.996197147923491 0.992615996545528 NA 0.00738400345447232 NA FALSE NA 0 0.54 . intron_variant MODIFIER BSPRY HGNC 18232 ENST00000374183 1/5 1 NA AAG A,G 8.258e-06 9:113354211 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 intron_variant 0.190843 0.19488 0.04799 0.06567 0.741474059171575 0.0517186 9.78555675234067e-05 FALSE 1.63177e-05 ENSE00000983872_002 ENSE00000983872 002 9 116116479 116116648 + 41 99 30 G A 116116492 1501 14 GCTGAGTAGAGAGGAAAGAAGAGGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGCAACACAAACAACGCTTGTGGCATTTTGGTCCATGTAC 113354198 113354368 113354211 113354212 113354212 upstr_intron -28 -0.658536585365854 GTACATGGACCAAAATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 74 61 1 1 1 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 0.00110914593704436 0.996197147923491 0.992615996545528 NA 0.00738400345447232 NA FALSE NA 0 0.864 . intron_variant MODIFIER BSPRY HGNC 18232 ENST00000374183 1/5 1 NA AGA G,A 8.258e-06 9:113354212 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 intron_variant 0.103144 0.16284 0.03046 0.06567 0.658345523457694 0.0517186 9.78555675234067e-05 FALSE 4.07887e-06 ENSE00000983872_003 ENSE00000983872 003 9 116116479 116116648 + 41 99 30 T C 116116494 1502 16 GCTGAGTAGAGAGGAAAGAAGAGGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGCAACACAAACAACGCTTGTGGCGTCTTGGTCCATGTAC 113354198 113354368 113354213 113354214 113354214 upstr_intron -26 -0.609756097560976 GTACATGGACCAAGACGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 1055 17 1 1 1 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 0.00110914593704436 0.996197147923491 0.992615996545528 NA 0.00738400345447232 NA FALSE NA 0 -2.543 . intron_variant MODIFIER BSPRY HGNC 18232 ENST00000374183 1/5 1 NA ATG T,C 8.258e-06 9:113354214 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 intron_variant -0.398851 0.06404 0.00062 0.06567 0.46618243251592 0.0517186 9.78555675234067e-05 FALSE 4.07687e-06 ENSE00000983872_004 ENSE00000983872 004 9 116116479 116116648 + 41 99 30 G A 116116504 1503 26 GCTGAGTAGAGAGGAAAGAAGAGGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGCAACACAAACAATGCTTGTGGCATCTTGGTCCATGTAC 113354198 113354368 113354223 113354224 113354224 upstr_intron -16 -0.365853658536585 GTACATGGACCAAGATGCCACAAGCATTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 587 1303 1 0.996831019781307 0.998415509890653 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 -0.00205983428164891 0.996197147923491 0.992615996545528 NA 0.00579951334512568 NA FALSE NA 0 0.175 . intron_variant MODIFIER BSPRY HGNC 18232 ENST00000374183 1/5 rs372538396 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0004 CGT G,A 0.000157 9:113354224 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 intron_variant 0.473723 0.27431 0.04044 0.070351 0.64749190159757 0.140813 9.78555675234067e-05 FALSE 0.00015064 ENSE00000983872_006 ENSE00000983872 006 9 116116479 116116648 + 41 99 30 G A 116116516 1505 38 GCTGAGTAGAGAGGAAAGAAGAGGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGTAACACAAACAACGCTTGTGGCATCTTGGTCCATGTAC 113354198 113354368 113354235 113354236 113354236 upstr_intron -4 -0.0731707317073171 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTACAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 2241 374 0.973088985195054 1 0.986544492597527 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA -0.0132521538330457 0.00110914593704436 0.996197147923491 0.992615996545528 NA -0.00607150394800066 NA FALSE NA 1 1.006 . splice_region_variant&intron_variant LOW BSPRY HGNC 18232 ENST00000374183 1/5 1 NA TGC G,A 8.257e-06 9:113354236 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 splice_region_variant 1.751418 0.96437 0.6064 0.078448 0.823653360236089 0.27415 9.78555675234067e-05 FALSE 1.22052e-05 ENSE00000983872_009 ENSE00000983872 009 9 116116479 116116648 + 41 99 30 T A 116116538 1508 60 GCTGAGTAGAGAGGAAAGAAGAGGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACTCTGGTCCACAATCTTGTTCTGCAACACAAACAACGCTTGTGGCATCTTGGTCCATGTAC 113354198 113354368 113354257 113354258 113354258 exon 19 0.191919191919192 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGAGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 103 381 0.955522828754498 1 0.977761414377249 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA -0.030818310273602 0.00110914593704436 0.996197147923491 0.992615996545528 NA -0.0148545821682788 NA FALSE NA 1 4.661 . missense_variant MODERATE BSPRY HGNC 18232 ENST00000374183 2/6 1 deleterious(0) probably_damaging(0.961) NA GTG T,A 8.259e-06 9:113354258 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 missense_variant 5.562436 0.97427 0.89553 0.743674 0.991792020966764 0 9.78555675234067e-05 FALSE 8.12348e-06 ENSE00000983872_011 ENSE00000983872 011 9 116116479 116116648 + 41 99 30 C T 116116563 1510 85 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGTTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 113354282 113354283 113354283 exon 44 0.444444444444444 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGTTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 156 40 1 1 1 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 0.00110914593704436 0.996197147923491 0.992615996545528 NA 0.00738400345447232 NA FALSE NA 0.985 3.032 . missense_variant MODERATE BSPRY HGNC 18232 ENST00000374183 2/6 1 tolerated(0.22) benign(0.091) NA GCT C,T 5.781e-05 9:113354283 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 missense_variant 2.840978 0.97479 0.83323 0.743674 0.746816194360086 0 9.78555675234067e-05 FALSE 4.87405e-05 ENSE00000983872_014 ENSE00000983872 014 9 116116479 116116648 + 41 99 30 A G 116116568 1513 90 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCGTCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 113354287 113354288 113354288 exon 49 0.494949494949495 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCGTCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 374 717 1 0.99833742357523 0.999168711787615 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 -0.000553430487725826 0.996197147923491 0.992615996545528 NA 0.00655271524208723 NA FALSE NA 1 5.442 NA NA NA BSPRY NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:113354288 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 missense_variant 4.620452 0.97236 0.90828 0.743674 0.99804060120479 0 9.78555675234067e-05 FALSE 1.62456e-05 ENSE00000983872_015 ENSE00000983872 015 9 116116479 116116648 + 41 99 30 A G 116116571 1514 93 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCGCCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 113354290 113354291 113354291 exon -48 0.525252525252525 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCGCCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 1118 624 0.999520487295811 0.996372320245643 0.997946403770727 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0131793482677117 -0.00251853381731282 0.996197147923491 0.992615996545528 NA 0.00533040722519945 NA FALSE NA 1 0.836 . missense_variant MODERATE BSPRY HGNC 18232 ENST00000374183 2/6 1 tolerated(0.51) benign(0.001) NA CAC A,G 8.259e-06 9:113354291 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 missense_variant 0.673533 0.96074 0.49129 0.743674 0.950039992395472 0 9.78555675234067e-05 FALSE 4.06134e-06 ENSE00000983872_018 ENSE00000983872 018 9 116116479 116116648 + 41 99 30 C T 116116584 1517 106 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGTGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 113354303 113354304 113354304 exon -35 0.656565656565657 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGTGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 1434 623 1 0.996184509338979 0.998092254669489 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 -0.00270634472397679 0.996197147923491 0.992615996545528 NA 0.00547625812396174 NA FALSE NA 0.978 3.062 . missense_variant MODERATE BSPRY HGNC 18232 ENST00000374183 2/6 1 tolerated(0.12) benign(0.158) NA GCG C,T 1.652e-05 9:113354304 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 missense_variant 2.713294 0.97661 0.84539 0.743674 0.848564976288223 0 9.78555675234067e-05 FALSE 1.6246e-05 ENSE00000983872_019 ENSE00000983872 019 9 116116479 116116648 + 41 99 30 G A 116116585 1518 107 GCTGAGTAGAGAGGAAAGAAGAGGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCTGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGCAACACAAACAACGCTTGTGGCATCTTGGTCCATGTAC 113354198 113354368 113354304 113354305 113354305 exon -34 0.666666666666667 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCAGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 341 445 0.997067059960579 0.99860874069888 0.99783790032973 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0107259209324791 -0.000282113364075243 0.996197147923491 0.992615996545528 NA 0.00522190378420195 NA FALSE NA 0.021 -1.656 . synonymous_variant LOW BSPRY HGNC 18232 ENST00000374183 2/6 rs373291577 1 NA A:0 A:0.0001 CGG G,A 4.131e-05 9:113354305 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 synonymous_variant 0.650934 0.88732 0.0452 0.743674 0.535255041453771 0 9.78555675234067e-05 FALSE 3.24926e-05 ENSE00000983872_020 ENSE00000983872 020 9 116116479 116116648 + 41 99 30 C T 116116588 1519 110 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGATGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 113354307 113354308 113354308 exon -31 0.696969696969697 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGATGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 223 2504 1 0.993663655274537 0.996831827637269 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 -0.0052271987884186 0.996197147923491 0.992615996545528 NA 0.00421583109174084 NA FALSE NA 0.855 -0.128 . synonymous_variant LOW BSPRY HGNC 18232 ENST00000374183 2/6 rs557164626 1 T:0.0004 T:0 T:0.0014 NA T:0.001 T:0 T:0 ACG C,T 0.0001239 9:113354308 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 synonymous_variant 0.757494 0.95862 0.42736 0.743674 0.396589141354608 0 9.78555675234067e-05 FALSE 0.000146217 ENSE00000983872_021 ENSE00000983872 021 9 116116479 116116648 + 41 99 30 G A 116116589 1520 111 GCTGAGTAGAGAGGAAAGAAGAGGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGATGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGCAACACAAACAACGCTTGTGGCATCTTGGTCCATGTAC 113354198 113354368 113354308 113354309 113354309 exon -30 0.707070707070707 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACATCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 724 645 0.998972332255934 0.997177756387353 0.998075044321643 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0126311932278346 -0.00171309767560313 0.996197147923491 0.992615996545528 NA 0.00545904777611572 NA FALSE NA 1 4.151 . missense_variant MODERATE BSPRY HGNC 18232 ENST00000374183 2/6 1 tolerated(0.07) benign(0.032) NA CGT G,A 2.479e-05 9:113354309 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 missense_variant 1.930124 0.98759 0.93276 0.743674 0.994399196059086 0 9.78555675234067e-05 FALSE 1.62471e-05 ENSE00000983872_022 ENSE00000983872 022 9 116116479 116116648 + 41 99 30 C T 116116596 1521 118 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCTGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 113354315 113354316 113354316 exon -23 0.777777777777778 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCTGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 364 327 1 1 1 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 0.00110914593704436 0.996197147923491 0.992615996545528 NA 0.00738400345447232 NA FALSE NA 0.977 2.142 . missense_variant MODERATE BSPRY HGNC 18232 ENST00000374183 2/6 rs368306479 1 deleterious(0.04) benign(0.006) NA CCG C,T 0.0001322 9:113354316 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 missense_variant 2.215098 0.79173 0.64354 0.743674 0.818410521078072 0 9.78555675234067e-05 FALSE 8.12374e-05 ENSE00000983872_025 ENSE00000983872 025 9 116116479 116116648 + 41 99 30 T C 116116623 1524 145 GCTGAGTAGAGAGGAAAGAAGAGGAGTTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGCAACACAAACAACGCTTGTGGCATCTTGGTCCATGTAC 113354198 113354368 113354342 113354343 113354343 downstr_intron 5 1.17241379310345 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAACTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 395 752 0.999163518931485 0.992861098579628 0.996012308755557 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0128223799033857 -0.00602975548332785 0.996197147923491 0.992615996545528 NA 0.00339631221002895 NA FALSE NA 0.951 0.754 . splice_region_variant&intron_variant LOW BSPRY HGNC 18232 ENST00000374183 2/5 1 NA ATT T,C 8.27e-06 9:113354343 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 splice_region_variant 1.535102 0.94794 0.69621 0.06567 0.86840257646389 0.306135 9.78555675234067e-05 FALSE 4.06656e-06 ENSE00000983872_026 ENSE00000983872 026 9 116116479 116116648 + 41 99 30 C T 116116625 1525 147 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTTCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 113354344 113354345 113354345 downstr_intron 7 1.24137931034483 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTTCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 40 524 1 1 1 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 0.00110914593704436 0.996197147923491 0.992615996545528 NA 0.00738400345447232 NA FALSE NA 0.035 0.046 rs182334591 splice_region_variant&intron_variant LOW BSPRY HGNC 18232 ENST00000374183 2/5 rs182334591 1 T:0.0066 T:0.0227 T:0.0043 NA T:0 T:0 T:0 T:0.0131 T:0.0001 TCC C,T 0.002523 9:113354345 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 splice_region_variant 1.691247 0.8336 0.18163 0.06567 0.782368944081087 0.226562 9.78555675234067e-05 FALSE 0.00198111 ENSE00000983872_028 ENSE00000983872 028 9 116116479 116116648 + 41 99 30 C A 116116626 1527 148 GCTGAGTAGAGAGGAAAGAAGATGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGCAACACAAACAACGCTTGTGGCATCTTGGTCCATGTAC 113354198 113354368 113354345 113354346 113354346 downstr_intron 8 1.27586206896552 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCATCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 835 177 1 0.999105430734712 0.999552715367356 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 0.000214576671756506 0.996197147923491 0.992615996545528 NA 0.00693671882182839 NA FALSE NA 0 -0.244 NA NA NA BSPRY NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:113354346 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 splice_region_variant 1.503973 0.59266 0.06005 0.06567 0.803506346405693 0.0796867 9.78555675234067e-05 FALSE 0.0900338 ENSE00000983872_029 ENSE00000983872 029 9 116116479 116116648 + 41 99 30 T C 116116627 1528 149 GCTGAGTAGAGAGGAAAGAAGGGGAATTACCACTGCTCTTTGATTCTTCCCCGGCAGGACGTCCGCCACATACTTGGTGATGGCAGCACTCTGTAACTGCAGCCTCTCACACTGGTCCACAATCTTGTTCTGCAACACAAACAACGCTTGTGGCATCTTGGTCCATGTAC 113354198 113354368 113354346 113354347 113354347 downstr_intron 9 1.31034482758621 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCCCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 214 186 1 1 1 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 0.00110914593704436 0.996197147923491 0.992615996545528 NA 0.00738400345447232 NA FALSE NA 0 0.184 . intron_variant MODIFIER BSPRY HGNC 18232 ENST00000374183 2/5 rs573475250 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 CTC T,C 0.0002481 9:113354347 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 intron_variant 0.441762 0.21463 0.02646 0.06567 0.533393116178144 0.0796867 9.78555675234067e-05 FALSE 0.000203429 ENSE00000983872_030 ENSE00000983872 030 9 116116479 116116648 + 41 99 30 C T 116116638 1529 160 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTTTCTACTCAGC 113354198 113354368 113354357 113354358 113354358 downstr_intron 20 1.68965517241379 GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTTTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC mutant NA NA NA NA NA 384 1041 1 0.998300402656602 0.999150201328301 1 0.992394295846981 0.9863411390281 0.998890854062956 NA NA 0.0136588609719003 -0.000590451406353165 0.996197147923491 0.992615996545528 NA 0.00653420478277356 NA FALSE NA 0 0.438 . intron_variant MODIFIER BSPRY HGNC 18232 ENST00000374183 2/5 1 NA TCT C,T 8.271e-06 9:113354358 BSPRY HGNC Symbol protein_coding 21692 ENSG00000119411 ENSE00003521840 intron_variant 0.255257 0.28834 0.06132 0.06567 0.55054966377991 0.0540656 9.78555675234067e-05 FALSE 1.63368e-05 ENSE00000983872_BRK ENSE00000983872 BRK 9 116116479 116116648 + 41 99 30 A,G; T,T NA NA NA GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCTTAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGCCAATTCCTCTTCTTTCCTCTCTACTCAGC 113354198 113354368 NA NA NA NA NA NA GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCTTAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGCCAATTCCTCTTCTTTCCTCTCTACTCAGC GTACATGGACCAAGATGCCACAAGCGTTGTTTGTGTTGCAGAACAAGATTGTGGACCAGTGTGAGAGGCTGCAGTTACAGAGTGCTGCCATCACCAAGTATGTGGCGGACGTCCTGCCGGGGAAGAATCAAAGAGCAGTGGTAATTCCTCTTCTTTCCTCTCTACTCAGC control 914 218 0 0 0 230 492 0.040673109075602 0 0.020336554537801 1 0.992394295846981 0.9863411390281 0.998890854062956 -1 -0.992394295846981 -0.945668029952498 -0.998890854062956 0.996197147923491 0.992615996545528 -0.996197147923491 -0.972279442007727 0.0239177059157638 TRUE TRUE NA NA NA NA NA BSPRY NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BSPRY NA NA NA ENSG00000119411 ENSE00003521840 NA NA NA NA NA NA NA 9.78555675234067e-05 FALSE NA ENSE00000984670_000 ENSE00000984670 000 9 130251670 130251839 + 53 75 42 NA NA NA NA NA CTCTGAGAGAGCAGGTCCAGGGACCCCAGCCCCAGCGCTCACCTGGCTCCTGATCTGCCGATGCATCAGGTCTTTCTTCACCTGGAGTGCCTCGAACGCAGCCTTCTGCATCGCGCTCTGCAACACAGACCACCAGCCCTCAGCAGGGGCCGTGCCCACACTTTTCCCTG 127489390 127489560 NA NA NA NA NA NA CAGGGAAAAGTGTGGGCACGGCCCCTGCTGAGGGCTGGTGGTCTGTGTTGCAGAGCGCGATGCAGAAGGCTGCGTTCGAGGCACTCCAGGTGAAGAAAGACCTGATGCATCGGCAGATCAGGAGCCAGGTGAGCGCTGGGGCTGGGGTCCCTGGACCTGCTCTCTCAGAG CAGGGAAAAGTGTGGGCACGGCCCCTGCTGAGGGCTGGTGGTCTGTGTTGCAGAGCGCGATGCAGAAGGCTGCGTTCGAGGCACTCCAGGTGAAGAAAGACCTGATGCATCGGCAGATCAGGAGCCAGGTGAGCGCTGGGGCTGGGGTCCCTGGACCTGCTCTCTCAGAG natural NA NA NA NA NA 111 51 0.99391274989854 1 0.99695637494927 NA NA 0.99391274989854 1 NA NA 0 0 NA 0.99695637494927 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003663798 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00000984671_000 ENSE00000984671 000 9 130253444 130253613 + 50 81 39 NA NA NA NA NA AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT 127491164 127491334 NA NA NA NA NA NA AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT natural 273 274 0.859555472274811 0.778445987978573 0.819000730126692 4397 3712 0.920354277364429 0.952015120037918 0.936184698701173 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 0 0 0 0 0.819000730126692 0.936184698701173 0 0 0 FALSE FALSE NA NA NA NA NA LRSAM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRSAM1 NA NA NA ENSG00000148356 ENSE00003667855 NA NA NA NA NA NA NA 2.92723845718058e-05 FALSE NA ENSE00000984671_001 ENSE00000984671 001 9 130253444 130253613 + 50 81 39 A T 130253463 2688 20 AACTGTGGTTAATGTGAGTTAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT 127491164 127491334 127491183 127491184 127491184 upstr_intron -31 -0.6 AACTGTGGTTAATGTGAGTTAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT mutant NA NA NA NA NA 89 100 0.923919167005934 0.96351876613952 0.943718966572727 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 NA NA 0.00356488964150536 0.0115036461016025 0.819000730126692 0.936184698701173 NA 0.00753426787155392 NA FALSE NA 0.043 -0.19 . upstream_gene_variant MODIFIER LRSAM1 HGNC 25135 ENST00000476755 rs554583477 1 -:0.0006 -:0 -:0 NA -:0.003 -:0 -:0 TAA A,T 8.259e-06 9:127491184 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003667855 intron_variant 0.109334 0.57732 0.22065 0.099367 0.689587711488699 0.18091 2.92723845718058e-05 FALSE 1.24306e-05 ENSE00000984671_002 ENSE00000984671 002 9 130253444 130253613 + 50 81 39 G A 130253481 2689 38 ACCACGTGAAGGAGGGCAGGGGCAGGGAGCCCTACATACCTGGAGTGACTCTGTGTCCAGGGACTTCCTCTTTAACTCCAGCTGTGTCAGCTGCAATAACTCAGTTTCTATTAACTTAATCTAAACAGAAGATGAGACAGGGTTTTTTTTTACTCACATTAACCACAGTT 127491164 127491334 127491201 127491202 127491202 upstr_intron -13 -0.24 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCATCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT mutant NA NA NA NA NA 327 33 0.963615486294356 0.951971899997874 0.957793693146115 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 NA NA 0.0432612089299271 -4.32200400438676e-05 0.819000730126692 0.936184698701173 NA 0.0216089944449416 NA FALSE NA 0.001 -1.78 . upstream_gene_variant MODIFIER LRSAM1 HGNC 25135 ENST00000476755 1 NA CGT G,A 1.647e-05 9:127491202 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003667855 intron_variant 2.209876 0.93155 0.01357 0.156188 0.643192803729066 0.531616 2.92723845718058e-05 FALSE 1.2191e-05 ENSE00000984671_003 ENSE00000984671 003 9 130253444 130253613 + 50 81 39 C T 130253524 2690 81 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGTTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT 127491164 127491334 127491244 127491245 127491245 exon 31 0.382716049382716 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGTTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT mutant NA NA NA NA NA 709 127 0.961476883210188 0.958152553419266 0.959814718314727 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 NA NA 0.0411226058457599 0.00613743338134787 0.819000730126692 0.936184698701173 NA 0.0236300196135539 NA FALSE NA 1 1.188 . upstream_gene_variant MODIFIER LRSAM1 HGNC 25135 ENST00000476755 1 NA GCT C,T 0.00014 9:127491245 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003667855 synonymous_variant 1.605825 0.96646 0.82511 0.706298 0.780690897626563 0 2.92723845718058e-05 FALSE 0.000134111 ENSE00000984671_004 ENSE00000984671 004 9 130253444 130253613 + 50 81 39 T C 130253525 2691 82 ACCACGTGAAGGAGGGCAGGGGCAGGGAGCCCTACATACCTGGAGTGACTCTGTGTCCAGGGACTTCCTCTTTAACTCCAGCTGTGTCGGCTGCAATAACTCAGTTTCTATTAACTTAATCTAAACAGAAGACGAGACAGGGTTTTTTTTTACTCACATTAACCACAGTT 127491164 127491334 127491245 127491246 127491246 exon 32 0.395061728395062 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCCGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT mutant NA NA NA NA NA 153 114 0.999460801921674 0.990446081974067 0.994953441947871 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 NA NA 0.0791065245572458 0.0384309619361497 0.819000730126692 0.936184698701173 NA 0.0587687432466977 NA FALSE NA 1 6.42 . upstream_gene_variant MODIFIER LRSAM1 HGNC 25135 ENST00000476755 rs369939320 1 NA C:0 C:0.0001 CTG T,C 8.236e-06 9:127491246 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003667855 missense_variant 6.374062 0.98347 0.96221 0.706298 0.999205760045851 0 2.92723845718058e-05 FALSE 4.06398e-06 ENSE00000984671_005 ENSE00000984671 005 9 130253444 130253613 + 50 81 39 G A 130253536 2692 93 ACCACGTGAAGGAGGGCAGGGGCAGGGAGCCCTACATACCTGGAGTGACTCTGTGTCCAGGGACTTCCTCTTTAACTTCAGCTGTGTCAGCTGCAATAACTCAGTTTCTATTAACTTAATCTAAACAGAAGACGAGACAGGGTTTTTTTTTACTCACATTAACCACAGTT 127491164 127491334 127491256 127491257 127491257 exon -39 0.530864197530864 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGAAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT mutant NA NA NA NA NA 550 203 0.952522091627162 0.95 0.951261045813581 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 NA NA 0.0321678142627333 -0.00201512003791782 0.819000730126692 0.936184698701173 NA 0.0150763471124077 NA FALSE NA 1 7.861 . upstream_gene_variant MODIFIER LRSAM1 HGNC 25135 ENST00000476755 1 NA GGA G,A 1.647e-05 9:127491257 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003667855 missense_variant 6.991891 0.98649 0.97813 0.706298 0.999348807732078 0 2.92723845718058e-05 FALSE 8.12935e-06 ENSE00000984671_008 ENSE00000984671 008 9 130253444 130253613 + 50 81 39 T C 130253578 2695 135 ACCACGTGAAGGAGGGCAGGGGCAGGGAGCCCTACGTACCTGGAGTGACTCTGTGTCCAGGGACTTCCTCTTTAACTCCAGCTGTGTCAGCTGCAATAACTCAGTTTCTATTAACTTAATCTAAACAGAAGACGAGACAGGGTTTTTTTTTACTCACATTAACCACAGTT 127491164 127491334 127491298 127491299 127491299 downstr_intron 4 1.10526315789474 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTACGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT mutant NA NA NA NA NA 74 189 0.948111285913305 0.963342212408913 0.955726749161109 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 NA NA 0.0277570085488761 0.0113270923709949 0.819000730126692 0.936184698701173 NA 0.0195420504599355 NA FALSE NA 0.979 -0.119 . upstream_gene_variant MODIFIER LRSAM1 HGNC 25135 ENST00000476755 rs527739103 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 4.942e-05 9:127491299 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003667855 splice_region_variant 1.620305 0.95215 0.60752 0.099367 0.839688301302873 0.54867 2.92723845718058e-05 FALSE 6.11197e-05 ENSE00000984671_009 ENSE00000984671 009 9 130253444 130253613 + 50 81 39 A G 130253581 2696 138 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTGGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT 127491164 127491334 127491301 127491302 127491302 downstr_intron 7 1.18421052631579 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTGGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT mutant NA NA NA NA NA 22 199 0.954535160938344 0.799829841641534 0.877182501289939 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 NA NA 0.0341808835739154 -0.152185278396383 0.819000730126692 0.936184698701173 NA -0.059002197411234 NA FALSE NA 0.992 0.205 . upstream_gene_variant MODIFIER LRSAM1 HGNC 25135 ENST00000476755 1 NA TAG A,G 8.237e-06 9:127491302 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003667855 splice_region_variant 1.77517 0.95792 0.66035 0.099367 0.853871998334633 0.531665 2.92723845718058e-05 FALSE 4.07681e-06 ENSE00000984671_012 ENSE00000984671 012 9 130253444 130253613 + 50 81 39 T G 130253601 2699 158 ACCACGTGAAGGCGGGCAGGGGCAGGGAGCCCTACATACCTGGAGTGACTCTGTGTCCAGGGACTTCCTCTTTAACTCCAGCTGTGTCAGCTGCAATAACTCAGTTTCTATTAACTTAATCTAAACAGAAGACGAGACAGGGTTTTTTTTTACTCACATTAACCACAGTT 127491164 127491334 127491321 127491322 127491322 downstr_intron 27 1.71052631578947 AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCGCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT mutant NA NA NA NA NA 305 130 0.815734471480552 0.815611645761947 0.815673058621249 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 NA NA -0.104619805883877 -0.136403474275971 0.819000730126692 0.936184698701173 NA -0.120511640079924 NA FALSE NA 0 -0.795 . upstream_gene_variant MODIFIER LRSAM1 HGNC 25135 ENST00000476755 1 NA CTC T,G 8.239e-06 9:127491322 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003667855 intron_variant 0.357865 0.16465 0.1501 0.099367 0.771235504711721 0.0505682 2.92723845718058e-05 FALSE 4.10253e-06 ENSE00000984671_BRK ENSE00000984671 BRK 9 130253444 130253613 + 50 81 39 A,G; T,T NA NA NA AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTTTATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGCCATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT 127491164 127491334 NA NA NA NA NA NA AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTTTATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGCCATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT AACTGTGGTTAATGTGAGTAAAAAAAAACCCTGTCTCGTCTTCTGTTTAGATTAAGTTAATAGAAACTGAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTCCAGGTATGTAGGGCTCCCTGCCCCTGCCCTCCTTCACGTGGT control 173 58 0 0 0 NA NA NA NA NA 0.859555472274811 0.778445987978573 0.920354277364429 0.952015120037918 -0.859555472274811 -0.778445987978573 NA NA 0.819000730126692 0.936184698701173 -0.819000730126692 NA NA NA TRUE NA NA NA NA NA LRSAM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRSAM1 NA NA NA ENSG00000148356 ENSE00003667855 NA NA NA NA NA NA NA 2.92723845718058e-05 FALSE NA ENSE00000984776_000 ENSE00000984776 000 10 282727 282896 + 51 78 41 NA NA NA NA NA TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGGACTCACCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 NA NA NA NA NA NA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA natural NA NA NA NA NA 2175 2593 0.895765444317229 0.981868557975062 0.938817001146145 NA NA 0.895765444317229 0.981868557975062 NA NA 0 0 NA 0.938817001146145 NA 0 NA FALSE NA NA NA NA NA NA ZMYND11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMYND11 NA NA NA ENSG00000015171 ENSE00003619373 NA NA NA NA NA NA NA 0.999963586350186 TRUE NA ENSE00000984776_002 ENSE00000984776 002 10 282727 282896 + 51 78 41 T C 282775 2 49 TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGGACTCACCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTGTTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236834 236835 236835 upstr_intron -3 -0.0392156862745098 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAACAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 44 313 1 1 1 NA NA 0.895765444317229 0.981868557975062 NA NA 0.104234555682771 0.0181314420249381 NA 0.938817001146145 NA 0.0611829988538547 NA FALSE NA 0.997 2.33 . splice_region_variant&intron_variant LOW ZMYND11 HGNC 16966 ENST00000402736 4/13 1 NA ATA T,C 1.647e-05 10:236835 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 splice_region_variant 1.212642 0.94861 0.08237 0.162113 0.88656371500772 0.714131 0.999963586350186 TRUE 8.25648e-06 ENSE00000984776_003 ENSE00000984776 003 10 282727 282896 + 51 78 41 G A 282810 3 84 TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGGACTCACCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATTTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236869 236870 236870 exon 33 0.423076923076923 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAAATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 600 80 0.97986867342612 0.961632660349978 0.970750666888049 NA NA 0.895765444317229 0.981868557975062 NA NA 0.0841032291088909 -0.0202358976250843 NA 0.938817001146145 NA 0.0319336657419033 NA FALSE NA 1 3.798 . synonymous_variant LOW ZMYND11 HGNC 16966 ENST00000402736 5/14 COSM296648 1 NA AGA G,A 8.236e-06 10:236870 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 synonymous_variant 1.066365 0.98205 0.93681 0.732398 0.622349811027826 0 0.999963586350186 TRUE 4.07461e-06 ENSE00000984776_005 ENSE00000984776 005 10 282727 282896 + 51 78 41 A G 282819 5 93 TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGGACTCACCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTACGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236878 236879 236879 exon -37 0.538461538461538 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACGTACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 100 37 1 1 1 NA NA 0.895765444317229 0.981868557975062 NA NA 0.104234555682771 0.0181314420249381 NA 0.938817001146145 NA 0.0611829988538547 NA FALSE NA 0.882 0.111 . synonymous_variant LOW ZMYND11 HGNC 16966 ENST00000402736 5/14 1 NA CAT A,G 2.471e-05 10:236879 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 synonymous_variant -0.034452 0.95617 0.71909 0.732398 0.716018642267047 0 0.999963586350186 TRUE 2.44286e-05 ENSE00000984776_006 ENSE00000984776 006 10 282727 282896 + 51 78 41 G A 282842 6 116 TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGGACTCACCCTCTCCTTCATGTGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236901 236902 236902 exon -14 0.833333333333333 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCACATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 187 247 0.985641773489535 0.990881510802651 0.988261642146093 NA NA 0.895765444317229 0.981868557975062 NA NA 0.0898763291723059 0.00901295282758929 NA 0.938817001146145 NA 0.0494446409999476 NA FALSE NA 1 9.359 . missense_variant MODERATE ZMYND11 HGNC 16966 ENST00000402736 5/14 1 deleterious(0) probably_damaging(0.955) NA CGC G,A 1.647e-05 10:236902 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 missense_variant 5.937437 0.99406 0.99155 0.732398 0.999041075821695 0 0.999963586350186 TRUE 4.07667e-06 ENSE00000984776_007 ENSE00000984776 007 10 282727 282896 + 51 78 41 G A 282852 7 126 TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGGACTCACCCTTTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236911 236912 236912 exon -4 0.961538461538462 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAAAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 34 501 1 1 1 NA NA 0.895765444317229 0.981868557975062 NA NA 0.104234555682771 0.0181314420249381 NA 0.938817001146145 NA 0.0611829988538547 NA FALSE NA 1 2.029 . synonymous_variant LOW ZMYND11 HGNC 16966 ENST00000402736 5/14 1 NA AGA G,A 8.237e-06 10:236912 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 synonymous_variant 1.182895 0.98573 0.92705 0.732398 0.65321500663124 0 0.999963586350186 TRUE 4.07681e-06 ENSE00000984776_008 ENSE00000984776 008 10 282727 282896 + 51 78 41 A G 282853 8 127 TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGGACTCACCCCCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236912 236913 236913 exon -3 0.974358974358974 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGGGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 26 146 0.975507048241264 0.992633799302209 0.984070423771737 NA NA 0.895765444317229 0.981868557975062 NA NA 0.0797416039240355 0.0107652413271471 NA 0.938817001146145 NA 0.0452534226255913 NA FALSE NA 1 1.243 . missense_variant&splice_region_variant MODERATE ZMYND11 HGNC 16966 ENST00000402736 5/14 1 tolerated(0.11) probably_damaging(0.95) NA GAG A,G 8.237e-06 10:236913 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 missense_variant 5.641593 0.97481 0.87798 0.732398 0.998645114611932 0 0.999963586350186 TRUE 4.07674e-06 ENSE00000984776_009 ENSE00000984776 009 10 282727 282896 + 51 78 41 C T 282862 9 136 TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGAACTCACCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236921 236922 236922 downstr_intron 7 1.175 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTTCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 72 105 1 0.997421834141466 0.998710917070733 NA NA 0.895765444317229 0.981868557975062 NA NA 0.104234555682771 0.0155532761664045 NA 0.938817001146145 NA 0.0598939159245879 NA FALSE NA 0.019 -0.065 . splice_region_variant&intron_variant LOW ZMYND11 HGNC 16966 ENST00000402736 5/13 1 NA TCC C,T 8.237e-06 10:236922 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 splice_region_variant 1.218603 0.33333 0.03572 0.106106 0.549720117552997 0.262369 0.999963586350186 TRUE 4.14656e-06 ENSE00000984776_011 ENSE00000984776 011 10 282727 282896 + 51 78 41 G A 282865 11 139 TGTTTTGGGATATTTTGAAAGATTCCCTGAGTAGGACTCACCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236924 236925 236925 downstr_intron 10 1.25 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTACTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 706 16 0.997108271671519 1 0.99855413583576 NA NA 0.895765444317229 0.981868557975062 NA NA 0.101342827354291 0.0181314420249381 NA 0.938817001146145 NA 0.0597371346896144 NA FALSE NA 0 -0.552 . intron_variant MODIFIER ZMYND11 HGNC 16966 ENST00000402736 5/13 1 NA TGC G,A 1.647e-05 10:236925 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 intron_variant 0.400164 0.24153 0.02422 0.106106 0.575322949028919 0.076403 0.999963586350186 TRUE NA ENSE00000984776_012 ENSE00000984776 012 10 282727 282896 + 51 78 41 T C 282879 12 153 TGTTTTGGGATATTTTGGAAGATTCCCTGAGCAGGACTCACCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236938 236939 236939 downstr_intron 24 1.6 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTCCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 499 168 0.997161753924432 0.999057447618784 0.998109600771608 NA NA 0.895765444317229 0.981868557975062 NA NA 0.101396309607204 0.0171888896437222 NA 0.938817001146145 NA 0.059292599625463 NA FALSE NA 0 -0.691 . intron_variant MODIFIER ZMYND11 HGNC 16966 ENST00000402736 5/13 1 NA TTC T,C 1.647e-05 10:236939 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 intron_variant 0.062739 0.16734 0.01446 0.106106 0.51375197442673 0.0476178 0.999963586350186 TRUE 2.55476e-05 ENSE00000984776_014 ENSE00000984776 014 10 282727 282896 + 51 78 41 T C 282885 14 159 TGTTTTGGGATGTTTTGAAAGATTCCCTGAGCAGGACTCACCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTCTATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 236944 236945 236945 downstr_intron 30 1.75 CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAACATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA mutant NA NA NA NA NA 1885 654 0.988275895632972 0.999357321403862 0.993816608518417 NA NA 0.895765444317229 0.981868557975062 NA NA 0.0925104513157433 0.0174887634288001 NA 0.938817001146145 NA 0.0549996073722717 NA FALSE NA 0 0.626 . intron_variant MODIFIER ZMYND11 HGNC 16966 ENST00000402736 5/13 1 NA ATA T,C 8.237e-06 10:236945 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003619373 intron_variant -0.001587 0.17963 0.03206 0.106106 0.28298287116811 0.0476178 0.999963586350186 TRUE 4.24473e-06 ENSE00000984776_BRK ENSE00000984776 BRK 10 282727 282896 + 51 78 41 A,G; T,T NA NA NA TGTTTTGGGATATTTTGAAAGATTCCCTGAGCAGGACTCGGCCTCTCCTTCATGCGGGAGACAATGAATCTGAGGTATGTGCCCATCTCCTGTTTGTTTGTATTCTTCTTCTTAATGCTAAATTGAAAAAAAAAGAATAAAAAAAGGTACAAAATCTGATCATTCTTATG 236786 236956 NA NA NA NA NA NA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATTTAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGCCGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA CATAAGAATGATCAGATTTTGTACCTTTTTTTATTCTTTTTTTTTCAATAGAGCATTAAGAAGAAGAATACAAACAAACAGGAGATGGGCACATACCTCAGATTCATTGTCTCCCGCATGAAGGAGAGGGTGAGTCCTGCTCAGGGAATCTTTCAAAATATCCCAAAACA control 148 56 0 0 0 646 1133 0 0 0 NA NA 0.895765444317229 0.981868557975062 NA NA -0.895765444317229 -0.981868557975062 NA 0.938817001146145 NA -0.938817001146145 NA TRUE NA NA NA NA NA NA ZMYND11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMYND11 NA NA NA ENSG00000015171 ENSE00003619373 NA NA NA NA NA NA NA 0.999963586350186 TRUE NA ENSE00000985435_000 ENSE00000985435 000 10 17168700 17168869 - 60 39 71 NA NA NA NA NA ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 NA NA NA NA NA NA TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT natural 213 182 0.537457846907541 0.64823134389746 0.5928445954025 9212 9066 0.783500978260654 0.724544630714102 0.754022804487378 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 0 0 0 0 0.5928445954025 0.754022804487378 0 0 0 FALSE FALSE NA NA NA NA NA CUBN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CUBN NA NA NA ENSG00000107611 ENSE00000985435 NA NA NA NA NA NA NA 3.03432572949695e-28 FALSE NA ENSE00000985435_001 ENSE00000985435 001 10 17168700 17168869 - 60 39 71 T C 17168711 410 159 ATTAATGATTCCAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126711 17126712 17126712 downstr_intron 49 1.83050847457627 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTGGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant NA NA NA NA NA 551 229 0.807867297339823 0.8 0.803933648669912 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 NA NA 0.0243663190791689 0.075455369285898 0.5928445954025 0.754022804487378 NA 0.0499108441825334 NA FALSE NA 0 -0.06 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 1 NA CTA T,C 8.236e-06 10:17126712 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.215504 0.17667 0.05768 0.053691 0.814859891543307 0.0731874 3.03432572949695e-28 FALSE 4.06431e-06 ENSE00000985435_002 ENSE00000985435 002 10 17168700 17168869 - 60 39 71 A C 17168712 411 158 ATTAATGATTCTCGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126712 17126713 17126713 downstr_intron 48 1.8135593220339 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACGAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 41 32 0 0 0 2226 626 0.799158976950641 0.801037881555459 0.80009842925305 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 0.0156579986899862 0.0764932508413567 0.5928445954025 0.754022804487378 -0.5928445954025 0.0460756247656715 0.638920220168172 FALSE TRUE 0 0.093 rs142810631 intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 rs142810631 1 C:0.0004 C:0 C:0 NA C:0.001 C:0 C:0.001 TAG A,C 0.0001071 10:17126713 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant -0.066795 0.09864 0.02006 0.053691 0.759814533942825 0.0731874 3.03432572949695e-28 FALSE 9.34853e-05 ENSE00000985435_003 ENSE00000985435 003 10 17168700 17168869 - 60 39 71 T C 17168714 412 156 ATTAATGATTCTAGCATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126714 17126715 17126715 downstr_intron 46 1.77966101694915 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATGCTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant NA NA NA NA NA 1845 1318 0.798843966899301 0.820285174823361 0.809564570861331 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 NA NA 0.0153429886386464 0.0957405441092586 0.5928445954025 0.754022804487378 NA 0.0555417663739525 NA FALSE NA 0 -0.201 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 rs371419979 1 NA C:0 C:0.0001 GTA T,C 5.765e-05 10:17126715 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.233336 0.17915 0.06715 0.053691 0.784137176657633 0.0731874 3.03432572949695e-28 FALSE 6.09558e-05 ENSE00000985435_004 ENSE00000985435 004 10 17168700 17168869 - 60 39 71 T C 17168719 413 151 ATTAATGATTCTAGTATGTCTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126719 17126720 17126720 downstr_intron 41 1.69491525423729 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAGACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant NA NA NA NA NA 702 1976 0.830338620634151 0.721034406858426 0.775686513746288 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 NA NA 0.0468376423734969 -0.00351022385567623 0.5928445954025 0.754022804487378 NA 0.0216637092589103 NA FALSE NA 0.002 0.343 rs183617236 intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 rs183617236 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTT T,C 8.236e-05 10:17126720 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant -0.088804 0.12929 0.07663 0.053691 0.661472986137207 0.0731874 3.03432572949695e-28 FALSE 6.09424e-05 ENSE00000985435_005 ENSE00000985435 005 10 17168700 17168869 - 60 39 71 T C 17168721 414 149 ATTAATGATTCTAGTATGTTTCCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126721 17126722 17126722 downstr_intron 39 1.66101694915254 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGGAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant NA NA NA NA NA 1110 17 0.818553390225134 0.8 0.809276695112567 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 NA NA 0.0350524119644793 0.075455369285898 0.5928445954025 0.754022804487378 NA 0.0552538906251887 NA FALSE NA 0 -0.44 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 1 NA TTC T,C 8.236e-06 10:17126722 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.104626 0.17785 0.01446 0.053691 0.720544682218175 0.0731874 3.03432572949695e-28 FALSE 4.06279e-06 ENSE00000985435_007 ENSE00000985435 007 10 17168700 17168869 - 60 39 71 T C 17168733 416 137 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATCTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126733 17126734 17126734 downstr_intron 27 1.45762711864407 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAGATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 26 76 0 0 0 NA NA NA NA NA 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 NA NA 0.5928445954025 0.754022804487378 -0.5928445954025 NA NA NA TRUE 0 0.27 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 1 NA TTT T,C 3.295e-05 10:17126734 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.190305 0.16681 0.06796 0.053691 0.813917892379502 0.0515493 3.03432572949695e-28 FALSE 2.84349e-05 ENSE00000985435_008 ENSE00000985435 008 10 17168700 17168869 - 60 39 71 A T 17168739 417 131 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTTTGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126739 17126740 17126740 downstr_intron 21 1.35593220338983 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACAAACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 52 25 0 0 0 157 762 0.801659403325399 0.87058618680109 0.836122795063244 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 0.0181584250647443 0.146041556086988 0.5928445954025 0.754022804487378 -0.5928445954025 0.082099990575866 0.674944585978366 FALSE TRUE 0.004 0.309 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 rs372795684 1 NA T:0 T:0.0001 TAT A,T 0.000593 10:17126740 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant -0.36747 0.13118 0.09352 0.053691 0.488194642612479 0.0515493 3.03432572949695e-28 FALSE 0.000653913 ENSE00000985435_009 ENSE00000985435 009 10 17168700 17168869 - 60 39 71 A C 17168743 418 127 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTCGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126743 17126744 17126744 downstr_intron 17 1.28813559322034 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACGACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 129 31 0 0.0865207902280798 0.0432603951140399 NA NA NA NA NA 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.56171055366938 NA NA 0.5928445954025 0.754022804487378 -0.54958420028846 NA NA NA TRUE 0 -0.782 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 1 NA TAG A,C 8.236e-06 10:17126744 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant -0.453726 0.08405 0.01855 0.053691 0.403463225951758 0.0515493 3.03432572949695e-28 FALSE 4.06151e-06 ENSE00000985435_010 ENSE00000985435 010 10 17168700 17168869 - 60 39 71 G A 17168744 419 126 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAATAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126744 17126745 17126745 downstr_intron 16 1.27118644067797 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTATTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant NA NA NA NA NA 2233 2162 0.784806900727961 0.8 0.792403450363981 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 NA NA 0.0013059224673071 0.075455369285898 0.5928445954025 0.754022804487378 NA 0.0383806458766026 NA FALSE NA 0 -0.202 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 1 NA AGT G,A 8.236e-06 10:17126745 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant -0.143071 0.1367 0.01685 0.053691 0.214693240257388 0.0515493 3.03432572949695e-28 FALSE 4.06147e-06 ENSE00000985435_011 ENSE00000985435 011 10 17168700 17168869 - 60 39 71 G A 17168747 420 123 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAACATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126747 17126748 17126748 downstr_intron 13 1.22033898305085 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGTTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant NA NA NA NA NA 1725 1421 0.8 0.803812307038132 0.801906153519066 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 NA NA 0.0164990217393457 0.0792676763240303 0.5928445954025 0.754022804487378 NA 0.047883349031688 NA FALSE NA 0.003 0.054 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 4/4 1 NA AGC G,A 2.471e-05 10:17126748 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.00536 0.19692 0.04616 0.053691 0.31990296595071 0.0515493 3.03432572949695e-28 FALSE 2.84299e-05 ENSE00000985435_013 ENSE00000985435 013 10 17168700 17168869 - 60 39 71 T C 17168761 422 109 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCCGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126761 17126762 17126762 exon -2 0.974358974358974 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCGGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 356 482 0.0747937969417848 0 0.0373968984708924 768 6582 0.175823605033438 0.0118597083260561 0.0938416566797468 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.462664049965756 -0.64823134389746 -0.607677373227217 -0.712684922388046 0.5928445954025 0.754022804487378 -0.555447696931608 -0.660181147807631 0.104733450876024 TRUE TRUE 1 3.191 . missense_variant&splice_region_variant MODERATE CUBN HGNC 2548 ENST00000377823 4/5 1 deleterious(0.01) possibly_damaging(0.719) NA CTG T,C 1.647e-05 10:17126762 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 missense_variant 2.047664 0.97294 0.92942 0.487112 0.88273467733205 0 3.03432572949695e-28 FALSE 8.12216e-06 ENSE00000985435_014 ENSE00000985435 014 10 17168700 17168869 - 60 39 71 C A 17168770 423 100 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGACTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126770 17126771 17126771 exon -11 0.743589743589744 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGTCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 28 35 0 0 0 1409 1251 0.572946984999413 0.678852934777104 0.625899959888258 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 -0.210553993261242 -0.0456916959369982 0.5928445954025 0.754022804487378 -0.5928445954025 -0.12812284459912 0.46472175080338 FALSE TRUE 0.994 0.372 . missense_variant MODERATE CUBN HGNC 2548 ENST00000377823 4/5 1 deleterious(0.02) benign(0.048) NA GCC C,A 8.236e-06 10:17126771 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 missense_variant 0.973051 0.94605 0.8169 0.487112 0.533008060553623 0 3.03432572949695e-28 FALSE 4.06121e-06 ENSE00000985435_015 ENSE00000985435 015 10 17168700 17168869 - 60 39 71 A G 17168805 424 65 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAGTAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126805 17126806 17126806 upstr_intron -7 -0.0845070422535211 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTACTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 43 69 0 0 0 286 30 0.00105052219083917 0.0108742418042033 0.00596238199752124 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 -0.782450456069815 -0.713670388909899 0.5928445954025 0.754022804487378 -0.5928445954025 -0.748060422489857 0.155215827087357 TRUE TRUE 0 -0.607 . splice_region_variant&intron_variant LOW CUBN HGNC 2548 ENST00000377823 3/4 1 NA AAT A,G 1.647e-05 10:17126806 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 splice_region_variant -1.039989 0.06661 0.00217 0.053691 0.269983982562419 0.246356 3.03432572949695e-28 FALSE 2.03082e-05 ENSE00000985435_016 ENSE00000985435 016 10 17168700 17168869 - 60 39 71 T C 17168806 425 64 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAACAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126806 17126807 17126807 upstr_intron -8 -0.0985915492957746 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTGTTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 99 41 0.0520984558066716 0 0.0260492279033358 2409 670 0.00848550237589824 0.122917693360392 0.0657015978681452 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.485359391100869 -0.64823134389746 -0.775015475884756 -0.60162693735371 0.5928445954025 0.754022804487378 -0.566795367499164 -0.688321206619233 0.121525839120069 TRUE TRUE 0 -1.144 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:17126807 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 splice_region_variant -0.243594 0.12359 0.0243 0.053691 0.467654067743569 0.247144 3.03432572949695e-28 FALSE 0.000450838 ENSE00000985435_017 ENSE00000985435 017 10 17168700 17168869 - 60 39 71 T A 17168806 426 64 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAAAAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126806 17126807 17126807 upstr_intron -8 -0.0985915492957746 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTTTTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 407 916 0.816974086018769 0.825899710202076 0.821436898110422 NA NA NA NA NA 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 0.279516239111228 0.177668366304616 NA NA 0.5928445954025 0.754022804487378 0.228592302707922 NA NA NA FALSE 0 -1.144 NA NA NA CUBN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CUBN NA NA NA ENSG00000107611 ENSE00000985435 splice_region_variant 0.347525 0.12963 0.02961 0.053691 0.410592321397843 0.247144 3.03432572949695e-28 FALSE 4.06161e-06 ENSE00000985435_018 ENSE00000985435 018 10 17168700 17168869 - 60 39 71 A G 17168807 427 63 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATGGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126807 17126808 17126808 upstr_intron -9 -0.112676056338028 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCCATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 30 77 0 0 0 NA NA NA NA NA 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 NA NA 0.5928445954025 0.754022804487378 -0.5928445954025 NA NA NA TRUE 0 -0.211 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 3/4 rs375431948 1 NA G:0 G:0.0005 TAG A,G 0.0002141 10:17126808 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant -0.16112 0.08991 0.00226 0.053691 0.566775364125852 0.24086 3.03432572949695e-28 FALSE 0.000276191 ENSE00000985435_019 ENSE00000985435 019 10 17168700 17168869 - 60 39 71 G A 17168810 428 60 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGAAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126810 17126811 17126811 upstr_intron -12 -0.154929577464789 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTTCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 20 66 0.924012475833517 0.85 0.887006237916758 1114 2286 0.944435337131148 0.939605647673616 0.942020492402382 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 0.386554628925976 0.20176865610254 0.160934358870494 0.215061016959514 0.5928445954025 0.754022804487378 0.294161642514258 0.187997687915004 0.106163954599254 FALSE FALSE 0.032 0.808 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 3/4 rs369627387 1 NA A:0.0002 A:0 GGA G,A 8.236e-06 10:17126811 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.125935 0.13264 0.00699 0.053691 0.417394373124732 0.235402 3.03432572949695e-28 FALSE 4.06174e-06 ENSE00000985435_020 ENSE00000985435 020 10 17168700 17168869 - 60 39 71 A C 17168811 429 59 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGCAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126811 17126812 17126812 upstr_intron -13 -0.169014084507042 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTGCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant NA NA NA NA NA 607 215 0.0100856219921074 0.00149113420756779 0.00578837809983758 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 NA NA -0.773415356268547 -0.723053496506534 0.5928445954025 0.754022804487378 NA -0.748234426387541 NA TRUE NA 0.174 1.048 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 3/4 rs376909454 1 NA C:0 C:0.0001 GAA A,C 9.06e-05 10:17126812 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.004918 0.17494 0.12744 0.053691 0.756295312277144 0.24086 3.03432572949695e-28 FALSE 0.000113728 ENSE00000985435_021 ENSE00000985435 021 10 17168700 17168869 - 60 39 71 T A 17168827 430 43 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTAAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126827 17126828 17126828 upstr_intron -29 -0.394366197183099 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTTACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 154 15 0 0 0 3512 1170 0.0051678848475098 0.000547054788561218 0.00285746981803551 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 -0.778333093413144 -0.723997575925541 0.5928445954025 0.754022804487378 -0.5928445954025 -0.751165334669343 0.158320739266842 TRUE TRUE 0.926 1.689 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 3/4 rs368762141 1 NA A:0 A:0.0002 TTA T,A 4.942e-05 10:17126828 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.592585 0.27337 0.677 0.053691 0.83311498811524 0.228903 3.03432572949695e-28 FALSE 4.06296e-05 ENSE00000985435_022 ENSE00000985435 022 10 17168700 17168869 - 60 39 71 G A 17168829 431 41 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAACTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126829 17126830 17126830 upstr_intron -31 -0.422535211267606 TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGTTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 306 86 0 0 0 566 629 0.0261790115652186 0.000508750483775652 0.0133438810244971 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 -0.757321966695436 -0.724035880230326 0.5928445954025 0.754022804487378 -0.5928445954025 -0.740678923462881 0.147834328060381 TRUE TRUE 0.527 0.423 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 3/4 1 NA AGC G,A 2.471e-05 10:17126830 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant 0.286667 0.21085 0.03874 0.053691 0.699940214219617 0.165868 3.03432572949695e-28 FALSE 3.25071e-05 ENSE00000985435_023 ENSE00000985435 023 10 17168700 17168869 - 60 39 71 T C 17168844 432 26 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCACTGCACATGTGATGTTATATCCTTGA 17126700 17126870 17126844 17126845 17126845 upstr_intron -46 -0.633802816901408 TCAAGGATATAACATCACATGTGCAGTGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant NA NA NA NA NA 1763 383 0.738304056169894 0.8 0.769152028084947 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 NA NA -0.0451969220907603 0.075455369285898 0.5928445954025 0.754022804487378 NA 0.0151292235975689 NA FALSE NA 0 -0.314 rs193157109 intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 3/4 rs193157109 1 NA ATT T,C 8.237e-06 10:17126845 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant -0.019378 0.14996 0.02214 0.053691 0.582447332697437 0.0939953 3.03432572949695e-28 FALSE 4.06779e-06 ENSE00000985435_024 ENSE00000985435 024 10 17168700 17168869 - 60 39 71 A G 17168850 433 20 ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTACCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGCTGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACGTGTGATGTTATATCCTTGA 17126700 17126870 17126850 17126851 17126851 upstr_intron -52 -0.71830985915493 TCAAGGATATAACATCACACGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT mutant 10 11 0 0 0 2145 1266 0.732142473782516 0.798420606133079 0.765281539957798 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 -0.0513585044781382 0.0738759754189772 0.5928445954025 0.754022804487378 -0.5928445954025 0.0112587354704195 0.60410333087292 FALSE TRUE 0.025 0.727 . intron_variant MODIFIER CUBN HGNC 2548 ENST00000377823 3/4 1 NA CAT A,G 1.647e-05 10:17126851 CUBN HGNC Symbol protein_coding 305867 ENSG00000107611 ENSE00000985435 intron_variant -0.153497 0.13719 0.05479 0.053691 0.611814998940818 0.0939953 3.03432572949695e-28 FALSE 1.22129e-05 ENSE00000985435_BRK ENSE00000985435 BRK 10 17168700 17168869 - 60 39 71 A,G; T,T NA NA NA ATTAATGATTCTAGTATGTTTTCTGTGAAAGATTTGGGTATGTAGTAGCATGAGACCTGGCTGCTGCAAGCCTTGGAATTTTCTCTCAAGATCCACCAGAAGGCAATAGGGAAGAAAAAGCTTCAGTTAGCTGGTTCAAAGGCATTGCACATGTGATGTTATATCCTTGA 17126700 17126870 NA NA NA NA NA NA TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCTTCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGCCAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT TCAAGGATATAACATCACATGTGCAATGCCTTTGAACCAGCTAACTGAAGCTTTTTCTTCCCTATTGCCAGCTGGTGGATCTTGAGAGAAAATTCCAAGGCTTGCAGCAGGTAGGTCTCATGCTACTACATACCCAAATCTTTCACAGAAAACATACTAGAATCATTAAT control 178 155 0 0 0 964 1104 0.178528356467704 0.231871397081744 0.205199876774724 0.537457846907541 0.64823134389746 0.783500978260654 0.724544630714102 -0.537457846907541 -0.64823134389746 -0.60497262179295 -0.492673233632358 0.5928445954025 0.754022804487378 -0.5928445954025 -0.548822927712654 0.0440216676898458 TRUE TRUE NA NA NA NA NA CUBN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CUBN NA NA NA ENSG00000107611 ENSE00000985435 NA NA NA NA NA NA NA 3.03432572949695e-28 FALSE NA ENSE00000986190_000 ENSE00000986190 000 10 79743645 79743814 - 33 93 44 NA NA NA NA NA AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 NA NA NA NA NA NA AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC natural 177 206 0.85 0.850024471647951 0.850012235823976 4533 1860 0.732648169158731 0.813627765807687 0.773137967483209 0.85 0.850024471647951 0.732648169158731 0.813627765807687 0 0 0 0 0.850012235823976 0.773137967483209 0 0 0 FALSE FALSE NA NA NA NA NA POLR3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3A NA NA NA ENSG00000148606 ENSE00000986190 NA NA NA NA NA NA NA 7.38505099463942e-14 FALSE NA ENSE00000986190_001 ENSE00000986190 001 10 79743645 79743814 - 33 93 44 C T 79743655 1746 160 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAAAGAGGAAGTC 77983886 77984056 77983896 77983897 77983897 downstr_intron 23 1.71875 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAAAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 12 36 0.85 0.85 0.85 435 335 0.93840585406087 0.902673068689763 0.920539461375316 0.85 0.850024471647951 0.732648169158731 0.813627765807687 0 -2.44716479513851e-05 0.205757684902139 0.0890453028820765 0.850012235823976 0.773137967483209 -1.22358239756926e-05 0.147401493892108 0.147413729716083 FALSE FALSE 0 -0.085 . intron_variant MODIFIER POLR3A HGNC 30074 ENST00000372371 26/30 1 NA TCT C,T 8.237e-06 10:77983897 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 intron_variant 1.887458 0.1955 0.13485 0.099367 0.837394113747288 0.213524 7.38505099463942e-14 FALSE 4.10361e-06 ENSE00000986190_002 ENSE00000986190 002 10 79743645 79743814 - 33 93 44 C T 79743658 1747 157 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATATAGAGAGGAAGTC 77983886 77984056 77983899 77983900 77983900 downstr_intron 20 1.625 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATATAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 64 195 0.85 0.838638892968592 0.844319446484296 3125 1354 0.802370560213975 0.825277993396587 0.813824276805281 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -1.11022302462516e-16 -0.0113855786793596 0.0697223910552441 0.0116502275888998 0.850012235823976 0.773137967483209 -0.00569278933967987 0.040686309322072 0.0463790986617518 FALSE FALSE 0.002 1.14 . intron_variant MODIFIER POLR3A HGNC 30074 ENST00000372371 26/30 1 NA ACA C,T 8.237e-06 10:77983900 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 intron_variant 2.196481 0.30063 0.1974 0.099367 0.834661779913028 0.213524 7.38505099463942e-14 FALSE 4.09551e-06 ENSE00000986190_005 ENSE00000986190 005 10 79743645 79743814 - 33 93 44 C A 79743700 1750 115 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACTGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983941 77983942 77983942 exon -23 0.763440860215054 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACTGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 20 22 0 0.0915995369288736 0.0457997684644368 NA NA NA NA NA 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.85 -0.758424934719078 NA NA 0.850012235823976 0.773137967483209 -0.804212467359539 NA NA NA TRUE 1 4.686 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 1 tolerated(0.32) benign(0.039) NA CCG C,A 8.237e-06 10:77983942 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 4.268348 0.98227 0.96381 0.716459 0.997418128067849 0 7.38505099463942e-14 FALSE 4.06832e-06 ENSE00000986190_006 ENSE00000986190 006 10 79743645 79743814 - 33 93 44 G A 79743701 1751 114 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAATGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983942 77983943 77983943 exon -24 0.752688172043011 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAATGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 34 37 0 0 0 149 137 0.0799825435538996 0 0.0399912717769498 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.85 -0.850024471647951 -0.652665625604831 -0.813627765807687 0.850012235823976 0.773137967483209 -0.850012235823976 -0.733146695706259 0.116865540117717 TRUE TRUE 1 3.711 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 1 tolerated(0.08) probably_damaging(0.935) NA CGT G,A 1.647e-05 10:77983943 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 6.267923 0.94793 0.87683 0.716459 0.999177933847583 0 7.38505099463942e-14 FALSE 2.03454e-05 ENSE00000986190_007 ENSE00000986190 007 10 79743645 79743814 - 33 93 44 T C 79743702 1752 113 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAGCGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983943 77983944 77983944 exon -25 0.741935483870968 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAGCGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 24 25 0.482379197676014 0.454174167000903 0.468276682338458 1475 350 0.0297911294577519 0.0341134673628303 0.0319522984102911 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.367620802323986 -0.395850304647048 -0.702857039700979 -0.779514298444857 0.850012235823976 0.773137967483209 -0.381735553485517 -0.741185669072917 0.3594501155874 TRUE FALSE 0.999 0.57 . synonymous_variant LOW POLR3A HGNC 30074 ENST00000372371 26/31 1 NA GTT T,C 4.942e-05 10:77983944 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 synonymous_variant 0.293572 0.91709 0.65021 0.716459 0.722497449303996 0 7.38505099463942e-14 FALSE 3.25404e-05 ENSE00000986190_008 ENSE00000986190 008 10 79743645 79743814 - 33 93 44 T G 79743703 1753 112 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGCACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983944 77983945 77983945 exon -26 0.731182795698925 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGCACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 117 152 0.0972736143797212 0 0.0486368071898606 NA NA NA NA NA 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.752726385620279 -0.850024471647951 NA NA 0.850012235823976 0.773137967483209 -0.801375428634115 NA NA NA TRUE 1 5.981 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 1 tolerated(0.24) benign(0.014) NA TTC T,G 8.237e-06 10:77983945 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 3.092373 0.97132 0.95348 0.716459 0.978913872204313 0 7.38505099463942e-14 FALSE 4.06755e-06 ENSE00000986190_009 ENSE00000986190 009 10 79743645 79743814 - 33 93 44 T C 79743715 1754 100 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAGGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983956 77983957 77983957 exon -38 0.602150537634409 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAGGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant NA NA NA NA NA 966 1183 0.0124168676672406 0.151109664532802 0.0817632661000215 0.85 0.850024471647951 0.732648169158731 0.813627765807687 NA NA -0.72023130149149 -0.662518101274885 0.850012235823976 0.773137967483209 NA -0.691374701383187 NA TRUE NA 1 7.661 rs138305578 missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 rs138305578 1 tolerated(0.24) benign(0.082) NA C:0.0007 C:0 CTT T,C 3.295e-05 10:77983957 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 3.003865 0.97064 0.9611 0.716459 0.997982121049327 0 7.38505099463942e-14 FALSE 1.22033e-05 ENSE00000986190_010 ENSE00000986190 010 10 79743645 79743814 - 33 93 44 C T 79743719 1755 96 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCATCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983960 77983961 77983961 exon -42 0.559139784946237 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCATCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant NA NA NA NA NA 619 250 0.0170524388216006 0.00256993231931737 0.009811185570459 0.85 0.850024471647951 0.732648169158731 0.813627765807687 NA NA -0.71559573033713 -0.811057833488369 0.850012235823976 0.773137967483209 NA -0.76332678191275 NA TRUE NA 0.942 2.019 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 rs199581222 1 tolerated(0.98) benign(0.05) T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 ACG C,T 0.0001483 10:77983961 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 1.655148 0.93703 0.85902 0.716459 0.887821360580869 0 7.38505099463942e-14 FALSE 0.00010172 ENSE00000986190_011 ENSE00000986190 011 10 79743645 79743814 - 33 93 44 G A 79743720 1756 95 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTTGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983961 77983962 77983962 exon -43 0.548387096774194 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTTGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 188 27 0 0 0 NA NA NA NA NA 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.85 -0.850024471647951 NA NA 0.850012235823976 0.773137967483209 -0.850012235823976 NA NA NA TRUE 0.051 -0.623 . synonymous_variant LOW POLR3A HGNC 30074 ENST00000372371 26/31 rs368705519&COSM920681 1 NA A:0 A:0.0001 CGA G,A 2.471e-05 10:77983962 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 synonymous_variant 1.719187 0.62684 0.15615 0.716459 0.832869069296439 0 7.38505099463942e-14 FALSE 2.03434e-05 ENSE00000986190_012 ENSE00000986190 012 10 79743645 79743814 - 33 93 44 A G 79743723 1757 92 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATCCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983964 77983965 77983965 exon -46 0.516129032258065 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATCCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 17 39 0.85 0.85 0.85 373 1377 0.959389488756859 0.957831028214697 0.958610258485778 0.85 0.850024471647951 0.732648169158731 0.813627765807687 0 -2.44716479513851e-05 0.226741319598129 0.144203262407011 0.850012235823976 0.773137967483209 -1.22358239756926e-05 0.18547229100257 0.185484526826545 FALSE FALSE 0.991 0.337 . synonymous_variant LOW POLR3A HGNC 30074 ENST00000372371 26/31 1 NA GAA A,G 8.237e-06 10:77983965 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 synonymous_variant 0.713125 0.91133 0.60563 0.716459 0.706290338429981 0 7.38505099463942e-14 FALSE 1.22021e-05 ENSE00000986190_013 ENSE00000986190 013 10 79743645 79743814 - 33 93 44 A T 79743724 1758 91 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTAATCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983965 77983966 77983966 exon -47 0.505376344086022 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTAATCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 29 17 0.85 0.947449623321648 0.898724811660824 NA NA NA NA NA 0.85 0.850024471647951 0.732648169158731 0.813627765807687 0 0.0974251516736961 NA NA 0.850012235823976 0.773137967483209 0.0487125758368481 NA NA NA FALSE 1 8.963 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 1 deleterious(0) possibly_damaging(0.908) NA AAT A,T 8.237e-06 10:77983966 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 6.914072 0.97217 0.97498 0.716459 0.994275146126584 0 7.38505099463942e-14 FALSE 8.13431e-06 ENSE00000986190_014 ENSE00000986190 014 10 79743645 79743814 - 33 93 44 G A 79743732 1759 83 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGATTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983973 77983974 77983974 exon 39 0.419354838709677 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGATTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 52 206 0 0 0 844 23 0.00611549353794495 0.0376656640335889 0.0218905787857669 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.85 -0.850024471647951 -0.726532675620786 -0.775962101774098 0.850012235823976 0.773137967483209 -0.850012235823976 -0.751247388697442 0.0987648471265339 TRUE TRUE 0.949 0.056 . synonymous_variant LOW POLR3A HGNC 30074 ENST00000372371 26/31 1 NA AGT G,A 8.237e-06 10:77983974 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 synonymous_variant 0.861535 0.91365 0.67273 0.716459 0.846494901951759 0 7.38505099463942e-14 FALSE 4.06805e-06 ENSE00000986190_015 ENSE00000986190 015 10 79743645 79743814 - 33 93 44 C T 79743734 1760 81 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATAACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983975 77983976 77983976 exon 37 0.397849462365591 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATAACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 62 13 0 0 0 845 1156 0.00524462727416093 0.0220470670318671 0.013645847153014 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.85 -0.850024471647951 -0.72740354188457 -0.79158069877582 0.850012235823976 0.773137967483209 -0.850012235823976 -0.759492120330195 0.090520115493781 TRUE TRUE 1 7.487 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 1 tolerated(0.32) benign(0.02) NA TCA C,T 8.237e-06 10:77983976 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 3.830266 0.97682 0.96507 0.716459 0.997973327908724 0 7.38505099463942e-14 FALSE 4.06875e-06 ENSE00000986190_016 ENSE00000986190 016 10 79743645 79743814 - 33 93 44 A G 79743742 1761 73 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCCTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983983 77983984 77983984 exon 29 0.311827956989247 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCCTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 249 398 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.850024471647951 0.732648169158731 0.813627765807687 0 -2.44716479513851e-05 NA NA 0.850012235823976 0.773137967483209 -1.22358239756926e-05 NA NA NA FALSE 1 8.963 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 1 tolerated(0.31) possibly_damaging(0.722) NA AAG A,G 8.237e-06 10:77983984 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 5.1875 0.97218 0.97461 0.716459 0.998905129655428 0 7.38505099463942e-14 FALSE 4.07103e-06 ENSE00000986190_017 ENSE00000986190 017 10 79743645 79743814 - 33 93 44 A T 79743756 1762 59 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATAGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983997 77983998 77983998 exon 15 0.161290322580645 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATAGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 82 58 0.0317233699603183 0 0.0158616849801592 158 263 0 0.00367189887831527 0.00183594943915764 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.818276630039682 -0.850024471647951 -0.732648169158731 -0.809955866929371 0.850012235823976 0.773137967483209 -0.834150550843817 -0.771302018044051 0.0628485327997654 TRUE TRUE 0.783 -0.032 . synonymous_variant LOW POLR3A HGNC 30074 ENST00000372371 26/31 rs199559258 1 T:0.0118 T:0.0008 T:0 NA T:0 T:0 T:0.0593 T:0 T:0.0001 CAA A,T 0.007199 10:77983998 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 synonymous_variant 0.355593 0.78569 0.59148 0.716459 0.832525357321292 0 7.38505099463942e-14 FALSE 0.00650299 ENSE00000986190_018 ENSE00000986190 018 10 79743645 79743814 - 33 93 44 A G 79743757 1763 58 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATACTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77983998 77983999 77983999 exon 14 0.150537634408602 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATACTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant NA NA NA NA NA 1659 164 0.81449399380256 0.8 0.80724699690128 0.85 0.850024471647951 0.732648169158731 0.813627765807687 NA NA 0.0818458246438298 -0.0136277658076868 0.850012235823976 0.773137967483209 NA 0.0341090294180715 NA FALSE NA 1 7.154 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 1 deleterious(0) probably_damaging(0.948) NA AAT A,G 4.118e-05 10:77983999 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 6.55631 0.97214 0.95898 0.716459 0.998416164463645 0 7.38505099463942e-14 FALSE 3.67323e-05 ENSE00000986190_019 ENSE00000986190 019 10 79743645 79743814 - 33 93 44 C T 79743764 1764 51 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCAAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77984005 77984006 77984006 exon 7 0.0752688172043011 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCAAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant NA NA NA NA NA 29 342 0.252511994731911 0.130319298799637 0.191415646765774 0.85 0.850024471647951 0.732648169158731 0.813627765807687 NA NA -0.480136174426819 -0.68330846700805 0.850012235823976 0.773137967483209 NA -0.581722320717434 NA TRUE NA 1 7.487 . missense_variant MODERATE POLR3A HGNC 30074 ENST00000372371 26/31 1 tolerated(0.4) benign(0.041) NA TCG C,T 8.237e-06 10:77984006 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 missense_variant 3.849873 0.97658 0.96474 0.716459 0.992565042698925 0 7.38505099463942e-14 FALSE 1.22804e-05 ENSE00000986190_020 ENSE00000986190 020 10 79743645 79743814 - 33 93 44 G A 79743765 1765 50 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCTGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77984006 77984007 77984007 exon 6 0.0645161290322581 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCTGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant NA NA NA NA NA 49 412 0.00619729416370689 0.00155647126931482 0.00387688271651085 0.85 0.850024471647951 0.732648169158731 0.813627765807687 NA NA -0.726450874995024 -0.812071294538372 0.850012235823976 0.773137967483209 NA -0.769261084766698 NA TRUE NA 0 -2.264 rs183347762 synonymous_variant LOW POLR3A HGNC 30074 ENST00000372371 26/31 rs183347762 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGG G,A 3.295e-05 10:77984007 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 synonymous_variant 1.784027 0.20517 0.09301 0.716459 0.830653491520637 0 7.38505099463942e-14 FALSE 3.68689e-05 ENSE00000986190_022 ENSE00000986190 022 10 79743645 79743814 - 33 93 44 A T 79743775 1767 40 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACACCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77984016 77984017 77984017 upstr_intron -5 -0.0909090909090909 AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACACCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 24 26 0 0 0 30 290 0 0.0776905250935503 0.0388452625467751 0.85 0.850024471647951 0.732648169158731 0.813627765807687 -0.85 -0.850024471647951 -0.732648169158731 -0.735937240714137 0.850012235823976 0.773137967483209 -0.850012235823976 -0.734292704936434 0.115719530887542 TRUE TRUE 0 -0.35 . splice_region_variant&intron_variant LOW POLR3A HGNC 30074 ENST00000372371 25/30 rs368905417 1 NA T:0 T:0.0001 GAG A,T 8.237e-06 10:77984017 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 splice_region_variant 0.395441 0.2569 0.15195 0 0.801900757078433 0.255316 7.38505099463942e-14 FALSE 4.11658e-06 ENSE00000986190_023 ENSE00000986190 023 10 79743645 79743814 - 33 93 44 C A 79743788 1768 27 AGGGGAAAGCGGCTGATTAACAGTCTTATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77984029 77984030 77984030 upstr_intron -18 -0.386363636363636 AGGGGAAAGCGGCTGATTAACAGTCTTATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant NA NA NA NA NA 678 536 0.955347091226975 0.968581687555467 0.961964389391221 0.85 0.850024471647951 0.732648169158731 0.813627765807687 NA NA 0.222698922068245 0.15495392174778 0.850012235823976 0.773137967483209 NA 0.188826421908012 NA FALSE NA 0 -0.225 . intron_variant MODIFIER POLR3A HGNC 30074 ENST00000372371 25/30 1 NA TCA C,A 8.238e-06 10:77984030 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 intron_variant 0.856581 0.25256 0.18373 0 0.769572559795977 0.172049 7.38505099463942e-14 FALSE NA ENSE00000986190_024 ENSE00000986190 024 10 79743645 79743814 - 33 93 44 C T 79743800 1769 15 AGGGGAAAGCGGCTAATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77984041 77984042 77984042 upstr_intron -30 -0.659090909090909 AGGGGAAAGCGGCTAATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 26 23 0.85 0.85 0.85 2075 876 0.79897200255428 0.8 0.79948600127714 0.85 0.850024471647951 0.732648169158731 0.813627765807687 0 -2.44716479513851e-05 0.0663238333955494 -0.0136277658076868 0.850012235823976 0.773137967483209 -1.22358239756926e-05 0.0263480337939313 0.026360269617907 FALSE FALSE 0 -0.177 rs147432721 intron_variant MODIFIER POLR3A HGNC 30074 ENST00000372371 25/30 rs147432721 1 T:0.0022 T:0.0008 T:0.0014 NA T:0 T:0.007 T:0.002 T:0.0011 T:0.0059 TCA C,T 0.002818 10:77984042 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 intron_variant 0.386602 0.27689 0.20754 0 0.781718837368319 0.171842 7.38505099463942e-14 FALSE 0.00318709 ENSE00000986190_025 ENSE00000986190 025 10 79743645 79743814 - 33 93 44 C T 79743804 1770 11 AGGGGAAAGCAGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77984045 77984046 77984046 upstr_intron -34 -0.75 AGGGGAAAGCAGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 31 102 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.850024471647951 0.732648169158731 0.813627765807687 0 -2.44716479512741e-05 NA NA 0.850012235823976 0.773137967483209 -1.22358239756371e-05 NA NA NA FALSE 0 0.018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:77984046 POLR3A HGNC Symbol protein_coding 60294 ENSG00000148606 ENSE00000986190 intron_variant 0.667894 0.27493 0.15086 0 0.77139545210904 0.168062 7.38505099463942e-14 FALSE 8.63729e-06 ENSE00000986190_026 ENSE00000986190 026 10 79743645 79743814 - 33 93 44 C A 79743804 1771 11 AGGGGAAAGCTGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC 77983886 77984056 77984045 77984046 77984046 upstr_intron -34 -0.75 AGGGGAAAGCTGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC AGGGGAAAGCGGCTGATTAACAGTCTGATCTTTTGACACTCCAGATTTCCGAGTATATTGAAGAAGTGTTTCTTCCTGATGACTGCTTTATTCTCGTCAAGCTCTCCCTGGAACGGATTAGGCTTCTGAGACTGGAAGTGAGTCACATAATTAAATGTAGAGAGGAAGTC mutant 20 40 0.85 0.85 0.85 583 1543 0.623266010275153 0.799195545995263 0.711230778135208 0.85 0.850024471647951 0.732648169158731 0.813627765807687 0 -2.44716479513851e-05 -0.109382158883577 -0.0144322198124237 0.850012235823976 0.773137967483209 -1.22358239756926e-05 -0.0619071893480006 0.0618949535240249 FALSE FALSE 0 0.018 NA NA NA POLR3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3A NA NA NA ENSG00000148606 ENSE00000986190 intron_variant 0.703399 0.34571 0.44177 0 0.742589961646928 0.168062 7.38505099463942e-14 FALSE 2.15932e-05 ENSE00000986573_000 ENSE00000986573 000 10 92675270 92675439 - 30 99 41 NA NA NA NA NA CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 NA NA NA NA NA NA GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG natural 241 181 0.998944584823549 0.995698150972823 0.997321367898186 3898 3870 0.972101524846143 0.957802571985117 0.96495204841563 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 0 0 0 0 0.997321367898186 0.96495204841563 0 0 0 FALSE FALSE NA NA NA NA NA ANKRD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD1 NA NA NA ENSG00000148677 ENSE00000986573 NA NA NA NA NA NA NA 0.000250275507071081 FALSE NA ENSE00000986573_001 ENSE00000986573 001 10 92675270 92675439 - 30 99 41 T A 92675283 1898 157 CAAGCGGTGTTTCATGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915525 90915526 90915526 downstr_intron 17 1.58620689655172 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACATGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 33 67 0.981107857452601 0.986471809254853 0.983789833353727 77 67 1 1 1 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.0178367273709479 -0.00922634171797043 0.0278984751538566 0.0421974280148827 0.997321367898186 0.96495204841563 -0.0135315345444592 0.0350479515843696 0.0485794861288288 FALSE FALSE 0 0.031 . intron_variant MODIFIER ANKRD1 HGNC 15819 ENST00000371697 8/8 1 NA CTT T 8.237e-06 10:90915526 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 intron_variant 0.260318 0.16166 0.13446 0.12324 0.600793417767869 0.0566476 0.000250275507071081 FALSE 4.07259e-06 ENSE00000986573_002 ENSE00000986573 002 10 92675270 92675439 - 30 99 41 G T 92675285 1899 155 CAAGCGGTGTTTCTTTTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915527 90915528 90915528 downstr_intron 15 1.51724137931034 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAAAAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 15 444 1 1 1 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA 0.0278984751538566 0.0421974280148827 0.997321367898186 0.96495204841563 NA 0.0350479515843696 NA FALSE NA 0 -0.117 . intron_variant MODIFIER ANKRD1 HGNC 15819 ENST00000371697 8/8 1 NA TGT G 8.237e-06 10:90915528 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 intron_variant 0.144722 0.14635 0.07232 0.12324 0.545844262929592 0.0566476 0.000250275507071081 FALSE NA ENSE00000986573_003 ENSE00000986573 003 10 92675270 92675439 - 30 99 41 C T 92675289 1900 151 CAAGCGGTGTTTCTTGTTTTCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915531 90915532 90915532 downstr_intron 11 1.37931034482759 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGAAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 28 11 0.986253468339293 1 0.993126734169647 NA NA NA NA NA 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.0126911164842561 0.00430184902717701 NA NA 0.997321367898186 0.96495204841563 -0.00419463372853957 NA NA NA FALSE 0 -0.565 . intron_variant MODIFIER ANKRD1 HGNC 15819 ENST00000371697 8/8 1 NA TCC C 8.237e-06 10:90915532 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 intron_variant 0.189552 0.10799 0.02452 0.12324 0.711600034625632 0.0566476 0.000250275507071081 FALSE 4.0711e-06 ENSE00000986573_004 ENSE00000986573 004 10 92675270 92675439 - 30 99 41 A G 92675294 1901 146 CAAGCGGTGTTTCTTGTTTCCAGTGCTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915536 90915537 90915537 downstr_intron 6 1.20689655172414 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGCACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 100 249 0 0 0 400 310 0.00684158085717173 0 0.00342079042858587 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.998944584823549 -0.995698150972823 -0.965259943988972 -0.957802571985117 0.997321367898186 0.96495204841563 -0.997321367898186 -0.961531257987045 0.0357901099111416 TRUE TRUE 1 8.951 . splice_region_variant&intron_variant LOW ANKRD1 HGNC 15819 ENST00000371697 8/8 1 NA TAC A 8.237e-06 10:90915537 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 splice_region_variant 1.73576 0.96031 0.97734 0.12324 0.949750908086622 0.939445 0.000250275507071081 FALSE 4.06957e-06 ENSE00000986573_005 ENSE00000986573 005 10 92675270 92675439 - 30 99 41 G T 92675309 1902 131 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTTATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915551 90915552 90915552 exon -10 0.909090909090909 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATAAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 55 113 0.880876883503329 0.881414941969215 0.881145912736272 574 566 0.992021639780655 0.987017316167793 0.989519477974224 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.118067701320221 -0.114283209003608 0.019920114934512 0.029214744182676 0.997321367898186 0.96495204841563 -0.116175455161914 0.024567429558594 0.140742884720508 FALSE FALSE 0.995 0.857 . synonymous_variant LOW ANKRD1 HGNC 15819 ENST00000371697 8/9 COSM540180 1 NA TGA G 8.237e-06 10:90915552 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 synonymous_variant 1.27579 0.85651 0.69626 0.627647 0.831542524977167 0 0.000250275507071081 FALSE 4.06832e-06 ENSE00000986573_006 ENSE00000986573 006 10 92675270 92675439 - 30 99 41 T C 92675311 1903 129 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGACGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915553 90915554 90915554 exon -12 0.888888888888889 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACGTCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 452 47 0.971142784245557 1 0.985571392122778 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA -0.000958740600586649 0.0421974280148827 0.997321367898186 0.96495204841563 NA 0.020619343707148 NA FALSE NA 0.003 0 rs144770680 missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 rs144770680&CM094354 1 tolerated(1) benign(0.004) NA C:0 C:0.0003 ATG T 3.295e-05 10:90915554 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant -1.422426 0.15391 0.10219 0.627647 0.568864881148828 0 0.000250275507071081 FALSE 3.25433e-05 ENSE00000986573_007 ENSE00000986573 007 10 92675270 92675439 - 30 99 41 C G 92675321 1904 119 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCGGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915563 90915564 90915564 exon -22 0.787878787878788 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCCGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 34 108 0.974128530397628 0.938664929581989 0.956396729989808 1646 876 0.873317450299708 1 0.936658725149854 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.0248160544259215 -0.0570332213908342 -0.0987840745464356 0.0421974280148827 0.997321367898186 0.96495204841563 -0.0409246379083779 -0.0282933232657764 0.0126313146426014 FALSE FALSE 0 -2.675 . synonymous_variant LOW ANKRD1 HGNC 15819 ENST00000371697 8/9 1 NA CCG C 5.766e-05 10:90915564 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 synonymous_variant 1.06259 0.07516 0.02929 0.627647 0.664670703557197 0 0.000250275507071081 FALSE 4.47486e-05 ENSE00000986573_008 ENSE00000986573 008 10 92675270 92675439 - 30 99 41 G A 92675322 1905 118 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCACGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915564 90915565 90915565 exon -23 0.777777777777778 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGTGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 137 104 0.933456253481042 0.945843396990921 0.939649825235982 NA NA NA NA NA 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.0654883313425076 -0.0498547539819015 NA NA 0.997321367898186 0.96495204841563 -0.0576715426622046 NA NA NA FALSE 1 7.679 rs35550482 missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 rs35550482&COSM388697&CM095438 1 deleterious(0.02) benign(0.052) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0009 A:0.0058 CGC G 0.002858 10:90915565 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 4.179251 0.94 0.95471 0.627647 0.992008715430144 0 0.000250275507071081 FALSE 0.00273769 ENSE00000986573_009 ENSE00000986573 009 10 92675270 92675439 - 30 99 41 A G 92675327 1906 113 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCGTACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915569 90915570 90915570 exon -28 0.727272727272727 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTACGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 19 27 1 1 1 179 134 0.987544960954088 0.992257006990879 0.989900983972483 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 0.00105541517645069 0.00430184902717701 0.0154434361079445 0.0344544350057615 0.997321367898186 0.96495204841563 0.00267863210181385 0.024948935556853 0.0222703034550392 FALSE FALSE 0.741 -0.023 . synonymous_variant LOW ANKRD1 HGNC 15819 ENST00000371697 8/9 1 NA CAT A 8.237e-06 10:90915570 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 synonymous_variant -0.466217 0.85782 0.2382 0.627647 0.538510636994065 0 0.000250275507071081 FALSE 4.06762e-06 ENSE00000986573_010 ENSE00000986573 010 10 92675270 92675439 - 30 99 41 T C 92675328 1907 112 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCACACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915570 90915571 90915571 exon -29 0.717171717171717 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTGTGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 842 389 0.953829247902292 0.912405054131324 0.933117151016808 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA -0.0182722769438519 -0.045397517853793 0.997321367898186 0.96495204841563 NA -0.0318348973988224 NA FALSE NA 1 5.985 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 rs374486076 1 deleterious(0.02) possibly_damaging(0.792) NA C:0.0002 C:0 ATA T 1.647e-05 10:90915571 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 4.743755 0.93912 0.94434 0.627647 0.996456507837395 0 0.000250275507071081 FALSE 1.62706e-05 ENSE00000986573_011 ENSE00000986573 011 10 92675270 92675439 - 30 99 41 A G 92675329 1908 111 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATGCATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915571 90915572 90915572 exon -30 0.707070707070707 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGCATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 13 14 1 0.974769040250691 0.987384520125345 119 230 1 1 1 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 0.00105541517645069 -0.0209291107221324 0.0278984751538566 0.0421974280148827 0.997321367898186 0.96495204841563 -0.00993684777284087 0.0350479515843696 0.0449847993572105 FALSE FALSE 1 3.519 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 rs377074932 1 tolerated(0.31) benign(0.006) NA G:0 G:0.0001 TAC A 3.295e-05 10:90915572 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 1.239343 0.91429 0.87317 0.627647 0.920373596907707 0 0.000250275507071081 FALSE 0.000109828 ENSE00000986573_012 ENSE00000986573 012 10 92675270 92675439 - 30 99 41 C T 92675330 1909 110 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATATATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915572 90915573 90915573 exon -31 0.696969696969697 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATATATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 189 810 1 0.998816688171141 0.999408344085571 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA 0.0278984751538566 0.041014116186024 0.997321367898186 0.96495204841563 NA 0.0344562956699403 NA FALSE NA 1 1.034 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 1 tolerated(0.12) benign(0.001) NA ACA C 8.237e-06 10:90915573 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 2.385841 0.9049 0.8215 0.627647 0.983684810341565 0 0.000250275507071081 FALSE 8.13557e-06 ENSE00000986573_013 ENSE00000986573 013 10 92675270 92675439 - 30 99 41 A G 92675331 1910 109 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACGTAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915573 90915574 90915574 exon -32 0.686868686868687 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTACGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 622 1271 0.994466526040338 0.999480608225086 0.996973567132712 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA 0.0223650011941946 0.0416780362399682 0.997321367898186 0.96495204841563 NA 0.0320215187170814 NA FALSE NA 1 3.517 rs183061595 missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 rs183061595 1 tolerated(0.05) benign(0.001) G:0.0006 G:0.0015 G:0.0014 NA G:0 G:0 G:0 G:0.0005 G:0 CAT A 9.06e-05 10:90915574 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 0.725939 0.90053 0.86571 0.627647 0.570782063513914 0 0.000250275507071081 FALSE 7.72848e-05 ENSE00000986573_014 ENSE00000986573 014 10 92675270 92675439 - 30 99 41 C A 92675336 1911 104 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATAAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915578 90915579 90915579 exon -37 0.636363636363636 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTTATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 24 14 0.85 0.974769040250691 0.912384520125345 NA NA NA NA NA 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.148944584823549 -0.0209291107221324 NA NA 0.997321367898186 0.96495204841563 -0.0849368477728409 NA NA NA FALSE 1 1.123 . synonymous_variant LOW ANKRD1 HGNC 15819 ENST00000371697 8/9 1 NA TCA C 8.237e-06 10:90915579 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 synonymous_variant 1.500447 0.8863 0.86362 0.627647 0.74064599343131 0 0.000250275507071081 FALSE 4.06812e-06 ENSE00000986573_015 ENSE00000986573 015 10 92675270 92675439 - 30 99 41 G T 92675338 1912 102 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCATGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915580 90915581 90915581 exon -39 0.616161616161616 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCATGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 10 16 1 0.999281241680324 0.999640620840162 136 68 0.984546725024124 1 0.992273362512062 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 0.00105541517645069 0.00358309070750096 0.0124452001779802 0.0421974280148827 0.997321367898186 0.96495204841563 0.00231925294197582 0.0273213140964315 0.0250020611544556 FALSE FALSE 0.999 1.671 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 COSM3441472 1 deleterious(0.03) probably_damaging(0.93) NA AGG G 8.237e-06 10:90915581 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 4.466332 0.92646 0.88623 0.627647 0.994602285542497 0 0.000250275507071081 FALSE 4.06825e-06 ENSE00000986573_016 ENSE00000986573 016 10 92675270 92675439 - 30 99 41 C T 92675343 1913 97 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTTGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915585 90915586 90915586 exon -44 0.565656565656566 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCAACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 515 160 0.997577757507411 1 0.998788878753705 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA 0.0254762326612671 0.0421974280148827 0.997321367898186 0.96495204841563 NA 0.0338368303380749 NA FALSE NA 0.983 4.411 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 rs367609929 1 tolerated(0.16) possibly_damaging(0.78) NA T:0.0005 T:0 TCG C 2.471e-05 10:90915586 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 5.417945 0.93282 0.85989 0.627647 0.997718746135932 0 0.000250275507071081 FALSE 2.03411e-05 ENSE00000986573_017 ENSE00000986573 017 10 92675270 92675439 - 30 99 41 T C 92675353 1914 87 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTCATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915595 90915596 90915596 exon 46 0.464646464646465 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATGAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 20 35 0.997021734900273 0.999350497753103 0.998186116326688 226 28 0.998718317827843 1 0.999359158913921 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.00192284992327607 0.00365234678028015 0.0266167929816994 0.0421974280148827 0.997321367898186 0.96495204841563 0.000864748428502038 0.034407110498291 0.033542362069789 FALSE FALSE 1 7.636 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 COSM198410 1 deleterious(0.04) possibly_damaging(0.844) NA TTA T 8.237e-06 10:90915596 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 4.512269 0.95037 0.95988 0.627647 0.99693965646869 0 0.000250275507071081 FALSE 8.1361e-06 ENSE00000986573_018 ENSE00000986573 018 10 92675270 92675439 - 30 99 41 T C 92675355 1915 85 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTACAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915597 90915598 90915598 exon 44 0.444444444444444 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTGTAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 149 147 0.980162072671381 0.979662316494122 0.979912194582751 61 513 0.984683309962588 0.998794269457793 0.99173878971019 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.0187825121521681 -0.0160358344787014 0.0125817851164445 0.0409916974726755 0.997321367898186 0.96495204841563 -0.0174091733154347 0.02678674129456 0.0441959146099947 FALSE FALSE 1 5.964 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 1 deleterious(0.02) benign(0.149) NA ATA T 1.647e-05 10:90915598 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 3.130386 0.92608 0.90538 0.627647 0.978057647932665 0 0.000250275507071081 FALSE 8.1367e-06 ENSE00000986573_019 ENSE00000986573 019 10 92675270 92675439 - 30 99 41 G A 92675357 1916 83 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAACGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915599 90915600 90915600 exon 42 0.424242424242424 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGTTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 22 16 0.998731025232295 1 0.999365512616148 468 144 1 1 1 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.000213559591253909 0.00430184902717701 0.0278984751538566 0.0421974280148827 0.997321367898186 0.96495204841563 0.00204414471796155 0.0350479515843696 0.0330038068664081 FALSE FALSE 0.853 0.012 . synonymous_variant LOW ANKRD1 HGNC 15819 ENST00000371697 8/9 1 NA AGC G 1.647e-05 10:90915600 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 synonymous_variant 0.325055 0.81839 0.41705 0.627647 0.831822914643342 0 0.000250275507071081 FALSE 8.1369e-06 ENSE00000986573_020 ENSE00000986573 020 10 92675270 92675439 - 30 99 41 A C 92675364 1917 76 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCCGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915606 90915607 90915607 exon 35 0.353535353535354 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACGGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 70 50 0.985349800816848 0.997209171929624 0.991279486373236 295 543 0.996171431321799 1 0.9980857156609 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.013594784006701 0.00151102095680078 0.0240699064756559 0.0421974280148827 0.997321367898186 0.96495204841563 -0.00604188152495011 0.0331336672452693 0.0391755487702194 FALSE FALSE 1 8.874 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 COSM4016569 1 tolerated(0.15) probably_damaging(0.914) NA CAG A 8.237e-06 10:90915607 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 4.407895 0.9535 0.98485 0.627647 0.996621871496538 0 0.000250275507071081 FALSE 4.06855e-06 ENSE00000986573_021 ENSE00000986573 021 10 92675270 92675439 - 30 99 41 C G 92675372 1918 68 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACGGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915614 90915615 90915615 exon 27 0.272727272727273 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCCGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 177 219 1 0.990615463119206 0.995307731559603 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA 0.0278984751538566 0.0328128911340885 0.997321367898186 0.96495204841563 NA 0.0303556831439725 NA FALSE NA 0 -5.438 . synonymous_variant LOW ANKRD1 HGNC 15819 ENST00000371697 8/9 1 NA CCG C 8.237e-06 10:90915615 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 synonymous_variant 1.041922 0.08094 0.025 0.627647 0.649688818140887 0 0.000250275507071081 FALSE 4.06951e-06 ENSE00000986573_022 ENSE00000986573 022 10 92675270 92675439 - 30 99 41 G A 92675385 1919 55 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACAGGGTATCTCCTTCCTAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915627 90915628 90915628 exon 14 0.141414141414141 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCTGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 11 23 0.992316092599 1 0.9961580462995 196 112 0.998520894445658 0.998585289326422 0.99855309188604 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.00662849222454898 0.00430184902717701 0.026419369599515 0.040782717341305 0.997321367898186 0.96495204841563 -0.00116332159868598 0.03360104347041 0.034764365069096 FALSE FALSE 1 9.456 . missense_variant MODERATE ANKRD1 HGNC 15819 ENST00000371697 8/9 rs562300152 1 deleterious(0) possibly_damaging(0.88) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGG G 8.237e-06 10:90915628 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 missense_variant 7.040929 0.96036 0.98291 0.627647 0.998842567258663 0 0.000250275507071081 FALSE NA ENSE00000986573_023 ENSE00000986573 023 10 92675270 92675439 - 30 99 41 A G 92675401 1920 39 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTGGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915643 90915644 90915644 upstr_intron -3 -0.0487804878048781 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCCAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 62 1247 1 0.955707395005424 0.977853697502712 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA 0.0278984751538566 -0.00209517697969319 0.997321367898186 0.96495204841563 NA 0.0129016490870817 NA FALSE NA 0.929 0.917 . splice_region_variant&intron_variant LOW ANKRD1 HGNC 15819 ENST00000371697 7/8 rs370493814 1 NA G:0.0002 G:0 TAG A 8.237e-06 10:90915644 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 splice_region_variant 1.2407 0.71045 0.69722 0.12324 0.770155548219138 0.234991 0.000250275507071081 FALSE 8.14359e-06 ENSE00000986573_024 ENSE00000986573 024 10 92675270 92675439 - 30 99 41 G T 92675402 1921 38 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTATAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915644 90915645 90915645 upstr_intron -4 -0.0731707317073171 GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTATAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant NA NA NA NA NA 1209 437 0.996691662566054 0.990378397424554 0.993535029995304 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 NA NA 0.0245901377199104 0.0325758254394366 0.997321367898186 0.96495204841563 NA 0.0285829815796735 NA FALSE NA 0.938 1.107 . splice_region_variant&intron_variant LOW ANKRD1 HGNC 15819 ENST00000371697 7/8 1 NA AGA G 6.589e-05 10:90915645 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 splice_region_variant 1.187165 0.68841 0.81676 0.12324 0.714824393011493 0.234991 0.000250275507071081 FALSE 7.73729e-05 ENSE00000986573_025 ENSE00000986573 025 10 92675270 92675439 - 30 99 41 C T 92675408 1922 32 CAAGCGGTGTTTCTTGTTTCCAGTACTTACACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCCTAGAGAAGTAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 90915650 90915651 90915651 upstr_intron -10 -0.219512195121951 GCCTCAGACCCACCTTGAACCTGTTGACTCTACTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG mutant 33 20 0.975419814711108 0.85 0.912709907355554 1147 764 0.969421959818637 1 0.984710979909318 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.0235247701124413 -0.145698150972823 -0.00267956502750688 0.0421974280148827 0.997321367898186 0.96495204841563 -0.0846114605426321 0.0197589314936879 0.10437039203632 FALSE FALSE 0 -0.084 . intron_variant MODIFIER ANKRD1 HGNC 15819 ENST00000371697 7/8 1 NA GCA C 1.647e-05 10:90915651 ANKRD1 HGNC Symbol protein_coding 9180 ENSG00000148677 ENSE00000986573 intron_variant 0.96315 0.27619 0.18485 0.12324 0.631194705172783 0.19122 0.000250275507071081 FALSE 4.07299e-06 ENSE00000986573_BRK ENSE00000986573 BRK 10 92675270 92675439 - 30 99 41 A,G; T,T NA NA NA CAAGCGGTGTTTCTTGTTTCCAGTACTTGGACAGTTCTTGATGTTGAGATCCGCGCCATACATAATCAGGAGTCGGATCATCTTATAGCGGTTCAGTCTCACCGCATCATGCAACGGGGTATCTCCTTCAAAGAGAAGCAGAGTCAACAGGTTCAAGGTGGGTCTGAGGC 90915512 90915682 NA NA NA NA NA NA GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTTTGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTCCAAGTACTGGAAACAAGAAACACCGCTTG GCCTCAGACCCACCTTGAACCTGTTGACTCTGCTTCTCTAGGAAGGAGATACCCCGTTGCATGATGCGGTGAGACTGAACCGCTATAAGATGATCCGACTCCTGATTATGTATGGCGCGGATCTCAACATCAAGAACTGTGTAAGTACTGGAAACAAGAAACACCGCTTG control 30 19 0 0 0 NA NA NA NA NA 0.998944584823549 0.995698150972823 0.972101524846143 0.957802571985117 -0.998944584823549 -0.995698150972823 NA NA 0.997321367898186 0.96495204841563 -0.997321367898186 NA NA NA TRUE NA NA NA NA NA ANKRD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD1 NA NA NA ENSG00000148677 ENSE00000986573 NA NA NA NA NA NA NA 0.000250275507071081 FALSE NA ENSE00000987087_000 ENSE00000987087 000 10 73591561 73591730 - 42 75 53 NA NA NA NA NA GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 NA NA NA NA NA NA GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC natural 194 134 0.960962045913919 0.995544459008072 0.978253252460995 804 2705 0.979128162982328 0.994574894798096 0.986851528890212 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0 0 0 0 0.978253252460995 0.986851528890212 0 0 0 FALSE FALSE NA NA NA NA NA PSAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSAP NA NA NA ENSG00000197746 ENSE00002498004 NA NA NA NA NA NA NA 0.950037220630023 TRUE NA ENSE00000987087_002 ENSE00000987087 002 10 73591561 73591730 - 42 75 53 A G 73591578 1672 153 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGCGCTTGAGCCACGGGCAC 71831803 71831973 71831820 71831821 71831821 downstr_intron 25 1.60975609756098 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGCGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 153 53 1 0.997004180566592 0.998502090283296 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.0208718370176721 0.00242928576849577 0.978253252460995 0.986851528890212 NA 0.011650561393084 NA FALSE NA 0 -0.951 rs191271117 intron_variant MODIFIER PSAP HGNC 9498 ENST00000394934 3/13 rs191271117 1 G:0.0082 G:0 G:0 NA G:0.0298 G:0.002 G:0.0092 G:0.0005 G:0.0001 CAC A,G 0.004892 10:71831821 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 intron_variant 0.108261 0.08191 0.01201 0.295142 0.461851848044562 0.0639904 0.950037220630023 TRUE 0.00554808 ENSE00000987087_004 ENSE00000987087 004 10 73591561 73591730 - 42 75 53 G A 73591594 1674 137 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGTGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831836 71831837 71831837 downstr_intron 9 1.21951219512195 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGTGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 29 48 0.998414451243897 0.999141798547293 0.998778124895595 236 229 0.998772912913402 0.997980486767282 0.998376699840342 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.0374524053299783 0.00359733953922137 0.0196447499310742 0.00340559196918588 0.978253252460995 0.986851528890212 0.0205248724345998 0.0115251709501301 0.00899970148446977 FALSE FALSE 0.002 0.75 . intron_variant MODIFIER PSAP HGNC 9498 ENST00000394934 3/13 1 NA CGC G,A 1.647e-05 10:71831837 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 intron_variant 0.381379 0.18085 0.21719 0.295142 0.41713806401921 0.0703362 0.950037220630023 TRUE 2.44441e-05 ENSE00000987087_005 ENSE00000987087 005 10 73591561 73591730 - 42 75 53 G A 73591597 1675 134 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGTGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831839 71831840 71831840 downstr_intron 6 1.14634146341463 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGTGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 20 21 1 1 1 298 571 0.990081970751449 1 0.995040985375724 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.039037954086081 0.00445554099192802 0.0109538077691211 0.00542510520190365 0.978253252460995 0.986851528890212 0.0217467475390045 0.00818945648551239 0.0135572910534921 FALSE FALSE 0.26 0.608 . splice_region_variant&intron_variant LOW PSAP HGNC 9498 ENST00000394934 3/13 1 NA CGC G,A 4.118e-05 10:71831840 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 splice_region_variant 0.941492 0.73403 0.48238 0.295142 0.815738239235593 0.0979071 0.950037220630023 TRUE 4.07329e-05 ENSE00000987087_006 ENSE00000987087 006 10 73591561 73591730 - 42 75 53 T C 73591613 1676 118 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAGTGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831855 71831856 71831856 exon -11 0.866666666666667 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAGTGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 670 252 0.999083870435533 1 0.999541935217767 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.0199557074532056 0.00542510520190365 0.978253252460995 0.986851528890212 NA 0.0126904063275546 NA FALSE NA 0.999 3.347 . missense_variant MODERATE PSAP HGNC 9498 ENST00000394934 3/14 rs570654892 1 possibly_damaging(0.654) C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 ATT T,C 1.647e-05 10:71831856 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 missense_variant 4.08154 0.89988 0.93219 0.706548 0.998258975022757 0 0.950037220630023 TRUE 1.62713e-05 ENSE00000987087_007 ENSE00000987087 007 10 73591561 73591730 - 42 75 53 T A 73591616 1677 115 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGTCAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831858 71831859 71831859 exon -14 0.826666666666667 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGTCAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 10 11 1 1 1 NA NA NA NA NA 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.039037954086081 0.00445554099192802 NA NA 0.978253252460995 0.986851528890212 0.0217467475390045 NA NA NA FALSE 1 5.263 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:71831859 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 missense_variant 5.520068 0.93667 0.97155 0.706548 0.991249695399544 0 0.950037220630023 TRUE 4.06752e-06 ENSE00000987087_010 ENSE00000987087 010 10 73591561 73591730 - 42 75 53 A G 73591625 1680 106 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATACGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831867 71831868 71831868 exon -23 0.706666666666667 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATACGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 218 337 0.999811070283215 0.991054894722755 0.995432982502985 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.0206829073008867 -0.00352000007534159 0.978253252460995 0.986851528890212 NA 0.00858145361277257 NA FALSE NA 0.975 8.049 NA NA NA PSAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:71831868 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 missense_variant 1.659883 0.90948 0.9817 0.706548 0.830388780159634 0 0.950037220630023 TRUE 2.84655e-05 ENSE00000987087_011 ENSE00000987087 011 10 73591561 73591730 - 42 75 53 C T 73591631 1681 100 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGATGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831873 71831874 71831874 exon -29 0.626666666666667 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGATGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 210 40 1 1 1 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.0208718370176721 0.00542510520190365 0.978253252460995 0.986851528890212 NA 0.0131484711097879 NA FALSE NA 0.368 0.929 . missense_variant MODERATE PSAP HGNC 9498 ENST00000394934 3/14 1 benign(0.075) NA ACC C,T 8.236e-06 10:71831874 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 missense_variant 0.877041 0.33727 0.4427 0.706548 0.940697028679773 0 0.950037220630023 TRUE 4.06636e-06 ENSE00000987087_012 ENSE00000987087 012 10 73591561 73591730 - 42 75 53 C T 73591638 1682 93 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCACAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831880 71831881 71831881 exon -36 0.533333333333333 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCACAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 378 461 0.999672927614823 1 0.999836463807412 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.0205447646324951 0.00542510520190365 0.978253252460995 0.986851528890212 NA 0.0129849349171994 NA FALSE NA 0.879 4.862 rs150701404 missense_variant MODERATE PSAP HGNC 9498 ENST00000394934 3/14 rs150701404 1 benign(0.163) NA T:0.0002 T:0 GCG C,T 6.589e-05 10:71831881 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 missense_variant 3.148934 0.86283 0.94541 0.706548 0.99869430838151 0 0.950037220630023 TRUE 4.87948e-05 ENSE00000987087_013 ENSE00000987087 013 10 73591561 73591730 - 42 75 53 G A 73591639 1683 92 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACTGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831881 71831882 71831882 exon -37 0.52 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACTGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 19 19 1 1 1 165 121 1 0.988174833049722 0.994087416524861 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.039037954086081 0.00445554099192802 0.0208718370176721 -0.00640006174837482 0.978253252460995 0.986851528890212 0.0217467475390045 0.00723588763464866 0.0145108599043559 FALSE FALSE 0 -6.769 . synonymous_variant LOW PSAP HGNC 9498 ENST00000394934 3/14 COSM1505728 1 NA CGG G,A 8.236e-06 10:71831882 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 synonymous_variant 0.941006 0.1117 0.05233 0.706548 0.859350058965109 0 0.950037220630023 TRUE 1.62633e-05 ENSE00000987087_014 ENSE00000987087 014 10 73591561 73591730 - 42 75 53 C A 73591644 1684 87 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTTTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831886 71831887 71831887 exon 34 0.453333333333333 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTTTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 26 15 1 0.998183882424755 0.999091941212377 15 212 1 0.996066654741541 0.99803332737077 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.039037954086081 0.00263942341668266 0.0208718370176721 0.00149175994344464 0.978253252460995 0.986851528890212 0.0208386887513818 0.0111817984805584 0.00965689027082345 FALSE FALSE 0.068 0.227 . missense_variant MODERATE PSAP HGNC 9498 ENST00000394934 3/14 1 probably_damaging(0.967) NA ACA C,A 0.0002224 10:71831887 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 missense_variant 3.993678 0.18175 0.23821 0.706548 0.991520550017581 0 0.950037220630023 TRUE 0.000353676 ENSE00000987087_015 ENSE00000987087 015 10 73591561 73591730 - 42 75 53 G A 73591648 1685 83 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGATGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831890 71831891 71831891 exon 30 0.4 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGATGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 17 24 0.986479503786634 0.934498391593096 0.960488947689865 311 3325 1 0.998516895666452 0.999258447833226 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.0255174578727145 -0.0610460674149764 0.0208718370176721 0.00394200086835561 0.978253252460995 0.986851528890212 -0.0177643047711309 0.0124069189430139 0.0301712237141448 FALSE FALSE 0 -3.396 rs143981174 synonymous_variant LOW PSAP HGNC 9498 ENST00000394934 3/14 rs143981174 1 A:0.0020 A:0.0008 A:0.0014 NA A:0 A:0.006 A:0.002 A:0.0034 A:0.0076 CGT G,A 0.005115 10:71831891 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 synonymous_variant 0.946596 0.17207 0.09729 0.706548 0.867510166353 0 0.950037220630023 TRUE 0.0050165 ENSE00000987087_017 ENSE00000987087 017 10 73591561 73591730 - 42 75 53 A C 73591658 1687 73 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACAGATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831900 71831901 71831901 exon 20 0.266666666666667 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACAGATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 38 84 0.947634708844795 1 0.973817354422397 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA -0.0314934541375333 0.00542510520190365 0.978253252460995 0.986851528890212 NA -0.0130341744678149 NA FALSE NA 1 6.275 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:71831901 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 missense_variant 4.955412 0.90063 0.96175 0.706548 0.985207802766823 0 0.950037220630023 TRUE 8.12889e-06 ENSE00000987087_018 ENSE00000987087 018 10 73591561 73591730 - 42 75 53 A G 73591658 1688 73 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACACATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831900 71831901 71831901 exon 20 0.266666666666667 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACACATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 506 113 0.987952590803992 0.998983198332675 0.993467894568334 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.00882442782166415 0.00440830353457899 0.978253252460995 0.986851528890212 NA 0.00661636567812157 NA FALSE NA 1 6.275 NA NA NA PSAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSAP NA NA NA ENSG00000197746 ENSE00002498004 missense_variant 3.648002 0.89648 0.94557 0.706548 0.996257964907861 0 0.950037220630023 TRUE 8.12889e-06 ENSE00000987087_020 ENSE00000987087 020 10 73591561 73591730 - 42 75 53 G A 73591666 1690 65 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCTTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831908 71831909 71831909 exon 12 0.16 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCTTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 35 89 0.945154434602174 0.973328440748619 0.959241437675397 NA NA NA NA NA 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 -0.0158076113117451 -0.0222160182594526 NA NA 0.978253252460995 0.986851528890212 -0.0190118147855989 NA NA NA FALSE 0.943 -0.102 . synonymous_variant LOW PSAP HGNC 9498 ENST00000394934 3/14 1 NA AGG G,A 6.589e-05 10:71831909 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 synonymous_variant 0.429233 0.47596 0.65964 0.706548 0.87625191477604 0 0.950037220630023 TRUE 6.91034e-05 ENSE00000987087_022 ENSE00000987087 022 10 73591561 73591730 - 42 75 53 A T 73591683 1692 48 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCACTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831925 71831926 71831926 upstr_intron -6 -0.0943396226415094 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCACTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 16 49 0.958833468868245 0.827890197175444 0.893361833021844 NA NA NA NA NA 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 -0.00212857704567415 -0.167654261832628 NA NA 0.978253252460995 0.986851528890212 -0.0848914194391511 NA NA NA FALSE 0.635 1.035 . splice_region_variant&intron_variant LOW PSAP HGNC 9498 ENST00000394934 2/13 1 NA GAG A,T 1.647e-05 10:71831926 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 splice_region_variant 0.285538 0.30976 0.56696 0.062308 0.780502614164087 0.18718 0.950037220630023 TRUE 8.12982e-06 ENSE00000987087_023 ENSE00000987087 023 10 73591561 73591730 - 42 75 53 G A 73591688 1693 43 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTTTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831930 71831931 71831931 upstr_intron -11 -0.188679245283019 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTTTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 187 103 1 1 1 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.0208718370176721 0.00542510520190365 0.978253252460995 0.986851528890212 NA 0.0131484711097879 NA FALSE NA 0.356 1.378 . intron_variant MODIFIER PSAP HGNC 9498 ENST00000394934 2/13 1 NA AGA G,A 2.471e-05 10:71831931 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 intron_variant 0.201316 0.13295 0.10422 0.062308 0.828120728722722 0.171949 0.950037220630023 TRUE 2.03275e-05 ENSE00000987087_024 ENSE00000987087 024 10 73591561 73591730 - 42 75 53 C T 73591693 1694 38 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCATATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831935 71831936 71831936 upstr_intron -16 -0.283018867924528 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCATATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 15 18 0.985370247472479 0.923859507788463 0.954614877630471 NA NA NA NA NA 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.0244082015585602 -0.071684951219609 NA NA 0.978253252460995 0.986851528890212 -0.0236383748305244 NA NA NA FALSE 0 -1.397 . intron_variant MODIFIER PSAP HGNC 9498 ENST00000394934 2/13 1 NA ACG C,T 8.236e-06 10:71831936 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 intron_variant 0.575858 0.13175 0.02453 0.062308 0.750138855520462 0.171949 0.950037220630023 TRUE 1.21997e-05 ENSE00000987087_025 ENSE00000987087 025 10 73591561 73591730 - 42 75 53 G T 73591696 1695 35 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTATCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831938 71831939 71831939 upstr_intron -19 -0.339622641509434 GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTATCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 11 11 1 1 1 NA NA NA NA NA 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.039037954086081 0.00445554099192802 NA NA 0.978253252460995 0.986851528890212 0.0217467475390045 NA NA NA FALSE 0.331 3.384 rs150679635 intron_variant MODIFIER PSAP HGNC 9498 ENST00000394934 2/13 rs150679635 1 T:0.0006 T:0.0008 T:0.0014 NA T:0 T:0.001 T:0 T:0 T:0.0002 AGA G,T 9.06e-05 10:71831939 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 intron_variant 0.291365 0.20578 0.64473 0.062308 0.676581162664161 0.171027 0.950037220630023 TRUE 7.32041e-05 ENSE00000987087_026 ENSE00000987087 026 10 73591561 73591730 - 42 75 53 T C 73591701 1696 30 GGGGTGTGAATTTGTGTCCTGCAAATACAGATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831943 71831944 71831944 upstr_intron -24 -0.433962264150943 GGGGTGTGAATTTGTGTCCTGCAAATACAGATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant 21 18 0.99158427624211 0.978367753153953 0.984976014698032 73 21 1 0.992393178775936 0.996196589387968 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 0.0306222303281908 -0.0171767058541186 0.0208718370176721 -0.00218171602216055 0.978253252460995 0.986851528890212 0.00672276223703611 0.0093450604977558 0.00262229826071969 FALSE FALSE 0 -0.328 . intron_variant MODIFIER PSAP HGNC 9498 ENST00000394934 2/13 1 NA TTT T,C 1.647e-05 10:71831944 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 intron_variant 0.030496 0.20315 0.04178 0.062308 0.522450988229376 0.171027 0.950037220630023 TRUE 8.1357e-06 ENSE00000987087_027 ENSE00000987087 027 10 73591561 73591730 - 42 75 53 G A 73591712 1697 19 GGGGTGTGAATTTGTGTCTTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831954 71831955 71831955 upstr_intron -35 -0.641509433962264 GGGGTGTGAATTTGTGTCTTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 15 78 1 1 1 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.0208718370176721 0.00542510520190365 0.978253252460995 0.986851528890212 NA 0.0131484711097879 NA FALSE NA 0.002 0.28 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:71831955 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00002498004 intron_variant 0.435917 0.19992 0.08901 0 0.833862424025433 0.132927 0.950037220630023 TRUE 4.07186e-05 ENSE00000987087_028 ENSE00000987087 028 10 73591561 73591730 - 42 75 53 G C 73591712 1698 19 GGGGTGTGAATTTGTGTCGTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 71831954 71831955 71831955 upstr_intron -35 -0.641509433962264 GGGGTGTGAATTTGTGTCGTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC mutant NA NA NA NA NA 2938 14 0.999845818301122 0.988532060410614 0.994188939355868 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 NA NA 0.0207176553187938 -0.00604283438748232 0.978253252460995 0.986851528890212 NA 0.00733741046565572 NA FALSE NA 0.002 0.28 NA NA NA PSAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSAP NA NA NA ENSG00000197746 ENSE00002498004 intron_variant 0.149293 0.20306 0.14573 0 0.671340274628771 0.132927 0.950037220630023 TRUE 4.07186e-06 ENSE00000987087_BRK ENSE00000987087 BRK 10 73591561 73591730 - 42 75 53 A,G; T,T NA NA NA GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTTTAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGCCGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC 71831803 71831973 NA NA NA NA NA NA GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTTTAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGCCGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC GGGGTGTGAATTTGTGTCCTGCAAATACAAATTTCTCGTATTCTTTCTCTTAGAAATCCCTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAATGCCACTGAGGTGAGCGGCGGTGAGTGGGGATGGTGCTTGAGCCACGGGCAC control 292 464 0.85 0.85 0.85 11 63 0.8 0.95 0.875 0.960962045913919 0.995544459008072 0.979128162982328 0.994574894798096 -0.110962045913919 -0.145544459008072 -0.179128162982328 -0.0445748947980964 0.978253252460995 0.986851528890212 -0.128253252460995 -0.111851528890212 0.0164017235707834 FALSE FALSE NA NA NA NA NA PSAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSAP NA NA NA ENSG00000197746 ENSE00002498004 NA NA NA NA NA NA NA 0.950037220630023 TRUE NA ENSE00000987093_000 ENSE00000987093 000 10 73579965 73580134 - 32 96 42 NA NA NA NA NA GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 NA NA NA NA NA NA AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC natural 173 73 0.939220643425443 0.973143730839185 0.956182187132314 2427 2372 0.817190887917249 0.826093558658131 0.82164222328769 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 0 0 0 0 0.956182187132314 0.82164222328769 0 0 0 FALSE FALSE NA NA NA NA NA PSAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSAP NA NA NA ENSG00000197746 ENSE00003561267 NA NA NA NA NA NA NA 0.950037220630023 TRUE NA ENSE00000987093_001 ENSE00000987093 001 10 73579965 73580134 - 32 96 42 T C 73579976 1645 159 GAGGCCCTCCCCCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820218 71820219 71820219 downstr_intron 21 1.67741935483871 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGGGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 205 410 1 1 1 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.182809112082751 0.173906441341869 0.956182187132314 0.82164222328769 NA 0.17835777671231 NA FALSE NA 0 -0.483 . intron_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/2 1 NA CTC T,C 1.647e-05 10:71820219 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 intron_variant 0.227356 0.18111 0.0177 0.256867 0.678139395015052 0.112021 0.950037220630023 TRUE 8.12176e-06 ENSE00000987093_002 ENSE00000987093 002 10 73579965 73580134 - 32 96 42 G A 73579979 1646 156 GAGGCCCTCCCTCTACCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820221 71820222 71820222 downstr_intron 18 1.58064516129032 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGTAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant 32 28 0.759323654233355 0.954300940457856 0.856812297345605 NA NA NA NA NA 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 -0.179896989192088 -0.0188427903813285 NA NA 0.956182187132314 0.82164222328769 -0.0993698897867082 NA NA NA FALSE 0 -2.697 rs55829339 intron_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/2 rs55829339 1 A:0.1997 A:0.1997 A:0.2118 NA A:0.3552 A:0.0805 A:0.1534 A:0.1956 A:0.0878 TGC G,A 0.146 10:71820222 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 intron_variant 0.040069 0.21372 0.04273 0.256867 0.45406066674035 0.0903902 0.950037220630023 TRUE 0.15335 ENSE00000987093_003 ENSE00000987093 003 10 73579965 73580134 - 32 96 42 A G 73579985 1647 150 GAGGCCCTCCCTCTGCCAGGGGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820227 71820228 71820228 downstr_intron 12 1.38709677419355 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCCCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 167 514 1 0.999925925402597 0.999962962701299 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.182809112082751 0.173832366744466 0.956182187132314 0.82164222328769 NA 0.178320739413608 NA FALSE NA 0.001 -0.028 . intron_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/2 1 NA GAG A,G 4.942e-05 10:71820228 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 intron_variant 0.516648 0.26053 0.13394 0.256867 0.686047736783792 0.147019 0.950037220630023 TRUE 6.49709e-05 ENSE00000987093_004 ENSE00000987093 004 10 73579965 73580134 - 32 96 42 T A 73580002 1648 133 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGTCTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC 71820207 71820377 71820244 71820245 71820245 exon -6 0.947916666666667 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGTCTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 328 539 0.981820756084275 0.999929362667874 0.990875059376074 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.164629868167025 0.173835804009743 0.956182187132314 0.82164222328769 NA 0.169232836088384 NA FALSE NA 0.978 1.839 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 1 NA GTC T,A 4.118e-05 10:71820245 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 4.145933 0.90973 0.88762 0.706548 0.993396596600562 0 0.950037220630023 TRUE 3.24844e-05 ENSE00000987093_008 ENSE00000987093 008 10 73579965 73580134 - 32 96 42 T C 73580013 1652 122 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGCCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820255 71820256 71820256 exon -17 0.833333333333333 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGGCAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 273 286 0.983897175256146 0.975449623460551 0.979673399358349 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.166706287338897 0.14935606480242 0.956182187132314 0.82164222328769 NA 0.158031176070658 NA FALSE NA 0.376 2.661 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 1 NA GTC T,C 8.236e-06 10:71820256 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 1.159495 0.62874 0.68617 0.706548 0.96139805127999 0 0.950037220630023 TRUE NA ENSE00000987093_009 ENSE00000987093 009 10 73579965 73580134 - 32 96 42 C T 73580014 1653 121 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTTAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820256 71820257 71820257 exon -18 0.822916666666667 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTAACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant 61 90 0.907824323162041 0.887503598328459 0.89766396074525 NA NA NA NA NA 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 -0.0313963202634014 -0.0856401325107257 NA NA 0.956182187132314 0.82164222328769 -0.0585182263870636 NA NA NA FALSE 0.313 1.316 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 1 NA TCA C,T 4.118e-05 10:71820257 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 2.305314 0.64241 0.54116 0.706548 0.996516904952647 0 0.950037220630023 TRUE 2.84239e-05 ENSE00000987093_010 ENSE00000987093 010 10 73579965 73580134 - 32 96 42 T C 73580034 1654 101 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCCTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820276 71820277 71820277 exon -38 0.614583333333333 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAGGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant 12 13 0.999266746502916 1 0.999633373251458 NA NA NA NA NA 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 0.0600461030774737 0.0268562691608154 NA NA 0.956182187132314 0.82164222328769 0.0434511861191446 NA NA NA FALSE 1 1.987 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 1 NA CTT T,C 8.236e-06 10:71820277 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 1.379331 0.67129 0.86819 0.706548 0.993398197664767 0 0.950037220630023 TRUE 8.1211e-06 ENSE00000987093_012 ENSE00000987093 012 10 73579965 73580134 - 32 96 42 G A 73580042 1656 93 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGAAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820284 71820285 71820285 exon -46 0.53125 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTTCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 163 1482 0.950621575358099 0.997623885469731 0.974122730413915 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.133430687440849 0.1715303268116 0.956182187132314 0.82164222328769 NA 0.152480507126225 NA FALSE NA 0 -0.449 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 rs369725602 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 10:71820285 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 synonymous_variant 0.434086 0.18646 0.04664 0.706548 0.414890023516322 0 0.950037220630023 TRUE 1.62422e-05 ENSE00000987093_013 ENSE00000987093 013 10 73579965 73580134 - 32 96 42 T C 73580046 1657 89 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATCCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820288 71820289 71820289 exon 47 0.489583333333333 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGGATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant 19 39 0.85 0.965838516263495 0.907919258131747 410 121 0.99797504707186 1 0.99898752353593 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 -0.0892206434254428 -0.00730521457568967 0.180784159154611 0.173906441341869 0.956182187132314 0.82164222328769 -0.0482629290005662 0.17734530024824 0.225608229248806 FALSE FALSE 0.791 3.405 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 1 NA TTC T,C 8.236e-06 10:71820289 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 3.79084 0.79201 0.84989 0.706548 0.998474222815086 0 0.950037220630023 TRUE 4.06055e-06 ENSE00000987093_016 ENSE00000987093 016 10 73579965 73580134 - 32 96 42 G C 73580070 1660 65 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCACACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820312 71820313 71820313 exon 23 0.239583333333333 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTGTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 329 161 0.993805137358423 1 0.996902568679211 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.176614249441173 0.173906441341869 0.956182187132314 0.82164222328769 NA 0.175260345391521 NA FALSE NA 0 0.109 NA NA NA PSAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:71820313 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 2.337431 0.21767 0.27398 0.706548 0.971189811414765 0 0.950037220630023 TRUE 1.21817e-05 ENSE00000987093_017 ENSE00000987093 017 10 73579965 73580134 - 32 96 42 T C 73580074 1661 61 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTCTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820316 71820317 71820317 exon 19 0.197916666666667 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAGAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 200 20 1 1 1 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.182809112082751 0.173906441341869 0.956182187132314 0.82164222328769 NA 0.17835777671231 NA FALSE NA 0.002 0.651 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 1 NA TTT T,C 8.236e-06 10:71820317 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 0.685237 0.2536 0.2258 0.706548 0.914570488993997 0 0.950037220630023 TRUE 4.06055e-06 ENSE00000987093_018 ENSE00000987093 018 10 73579965 73580134 - 32 96 42 G A 73580076 1662 59 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTACTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820318 71820319 71820319 exon 17 0.177083333333333 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGTAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 280 694 0.98660481225724 0.996181740690778 0.991393276474009 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.16941392433999 0.170088182032647 0.956182187132314 0.82164222328769 NA 0.169751053186318 NA FALSE NA 0 -0.306 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 1 NA TGC G,A 8.236e-06 10:71820319 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant -0.043804 0.18033 0.17973 0.706548 0.748638389020653 0 0.950037220630023 TRUE 4.06055e-06 ENSE00000987093_019 ENSE00000987093 019 10 73579965 73580134 - 32 96 42 G A 73580087 1663 48 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCATGCTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820329 71820330 71820330 exon 6 0.0625 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCATGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 229 155 1 0.927299107652805 0.963649553826403 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.182809112082751 0.101205548994674 0.956182187132314 0.82164222328769 NA 0.142007330538712 NA FALSE NA 0 -0.493 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 rs377732178 1 NA A:0 A:0.0001 CGT G,A 1.647e-05 10:71820330 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 synonymous_variant 0.294998 0.2433 0.26148 0.706548 0.371429285252499 0 0.950037220630023 TRUE 2.43633e-05 ENSE00000987093_020 ENSE00000987093 020 10 73579965 73580134 - 32 96 42 G A 73580089 1664 46 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTACTTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820331 71820332 71820332 exon 4 0.0416666666666667 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGTACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 433 262 0.999141463287391 1 0.999570731643695 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.181950575370142 0.173906441341869 0.956182187132314 0.82164222328769 NA 0.177928508356005 NA FALSE NA 0 0.018 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 2/3 1 NA TGC G,A 8.236e-06 10:71820332 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 1.057271 0.27886 0.21164 0.706548 0.793859541754078 0 0.950037220630023 TRUE 8.1211e-06 ENSE00000987093_021 ENSE00000987093 021 10 73579965 73580134 - 32 96 42 T C 73580091 1665 44 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCCTCTGTGGAAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820333 71820334 71820334 exon 2 0.0208333333333333 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAGGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant 29 16 1 1 1 291 1225 0.999858493857838 0.999870874614804 0.999864684236321 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 0.0607793565745572 0.0268562691608154 0.182667605940589 0.173777315956673 0.956182187132314 0.82164222328769 0.0438178128676863 0.178222460948631 0.134404648080945 FALSE FALSE 0.64 0.744 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PSAP HGNC 9498 ENST00000493143 2/3 1 NA CTT T,C 8.236e-06 10:71820334 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 missense_variant 0.464189 0.35579 0.36471 0.706548 0.968419829240992 0 0.950037220630023 TRUE 4.06055e-06 ENSE00000987093_024 ENSE00000987093 024 10 73579965 73580134 - 32 96 42 A G 73580099 1668 36 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGGAAGAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820341 71820342 71820342 upstr_intron -7 -0.142857142857143 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTCCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 83 182 1 0.999790622734011 0.999895311367005 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.182809112082751 0.173697064075879 0.956182187132314 0.82164222328769 NA 0.178253088079315 NA FALSE NA 0 -0.188 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PSAP HGNC 9498 ENST00000493143 1/2 1 NA GAA A,G 8.236e-06 10:71820342 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 splice_region_variant -0.332597 0.23971 0.1668 0.099367 0.604707774849464 0.0476449 0.950037220630023 TRUE 1.62423e-05 ENSE00000987093_025 ENSE00000987093 025 10 73579965 73580134 - 32 96 42 G C 73580102 1669 33 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAACAGTAGAAGGAGAGTACTTTCAATGCTGGGACT 71820207 71820377 71820344 71820345 71820345 upstr_intron -10 -0.214285714285714 AGTCCCAGCATTGAAAGTACTCTCCTTCTACTGTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 450 135 0.995715735170134 1 0.997857867585067 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.178524847252885 0.173906441341869 0.956182187132314 0.82164222328769 NA 0.176215644297377 NA FALSE NA 0.091 1.597 . intron_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 1/2 1 NA AGA G,C 8.236e-06 10:71820345 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 intron_variant -0.277997 0.21425 0.36922 0.099367 0.332873168310058 0.0476449 0.950037220630023 TRUE 8.12117e-06 ENSE00000987093_026 ENSE00000987093 026 10 73579965 73580134 - 32 96 42 G T 73580113 1670 22 GAGGCCCTCCCTCTGCCAGGAGGACAGCATACCTCAGTCTTGTTGTTGTCAATCAGCTTGGTCACCTCCTTCACCAGGAATTCACACACCTCACAGTAAACATCAGACTTTGCTGGGACCTCGTGCTTCTGTGGAAAGAGTAGAAGGATAGTACTTTCAATGCTGGGACT 71820207 71820377 71820355 71820356 71820356 upstr_intron -21 -0.476190476190476 AGTCCCAGCATTGAAAGTACTATCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC mutant NA NA NA NA NA 324 117 0.999526703203054 0.998024173909039 0.998775438556046 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 NA NA 0.182335815285804 0.171930615250907 0.956182187132314 0.82164222328769 NA 0.177133215268356 NA FALSE NA 0.001 0.824 . intron_variant&non_coding_transcript_variant MODIFIER PSAP HGNC 9498 ENST00000493143 1/2 1 NA AGA G,T 8.237e-06 10:71820356 PSAP HGNC Symbol protein_coding 35077 ENSG00000197746 ENSE00003561267 intron_variant -0.135842 0.21759 0.28884 0.099367 0.358278082635662 0.0476449 0.950037220630023 TRUE 4.06072e-06 ENSE00000987093_BRK ENSE00000987093 BRK 10 73579965 73580134 - 32 96 42 A,G; T,T NA NA NA AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACTTAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGCCATGCTGTCCTCCTGGCAGAGGGAGGGCCTC 71820207 71820377 NA NA NA NA NA NA AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACTTAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGCCATGCTGTCCTCCTGGCAGAGGGAGGGCCTC AGTCCCAGCATTGAAAGTACTCTCCTTCTACTCTTTCCACAGAAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTCCTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAGGTATGCTGTCCTCCTGGCAGAGGGAGGGCCTC control 156 119 0 0 0 283 35 0.0595447750394524 0 0.0297723875197262 0.939220643425443 0.973143730839185 0.817190887917249 0.826093558658131 -0.939220643425443 -0.973143730839185 -0.757646112877797 -0.826093558658131 0.956182187132314 0.82164222328769 -0.956182187132314 -0.791869835767964 0.16431235136435 TRUE TRUE NA NA NA NA NA PSAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSAP NA NA NA ENSG00000197746 ENSE00003561267 NA NA NA NA NA NA NA 0.950037220630023 TRUE NA ENSE00000987270_000 ENSE00000987270 000 10 99130434 99130603 - 39 81 50 NA NA NA NA NA TGGGTGGAGGTAGCATTGAGGGGTCCTGACTGGTAGCCCTTTGCCCACAGCCCCGTTTGAAGTGCCTCCTACACATCGTGAGGAAGCTCTCAGCTGAACACAAGGAGTTCATCACTGCCCTCATCCCAGAGGTGAGTGTGCGGGTGTGTTTTAGAGGGGGGTCCCTGGAA 97370676 97370846 NA NA NA NA NA NA TGGGTGGAGGTAGCATTGAGGGGTCCTGACTGGTAGCCCTTTGCCCACAGCCCCGTTTGAAGTGCCTCCTACACATCGTGAGGAAGCTCTCAGCTGAACACAAGGAGTTCATCACTGCCCTCATCCCAGAGGTGAGTGTGCGGGTGTGTTTTAGAGGGGGGTCCCTGGAA TGGGTGGAGGTAGCATTGAGGGGTCCTGACTGGTAGCCCTTTGCCCACAGCCCCGTTTGAAGTGCCTCCTACACATCGTGAGGAAGCTCTCAGCTGAACACAAGGAGTTCATCACTGCCCTCATCCCAGAGGTGAGTGTGCGGGTGTGTTTTAGAGGGGGGTCCCTGGAA natural NA NA NA NA NA 593 833 0.982971470990453 0.986227430913641 0.984599450952047 NA NA 0.982971470990453 0.986227430913641 NA NA 0 0 NA 0.984599450952047 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003538169 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00000987603_000 ENSE00000987603 000 10 103869319 103869488 - 38 84 48 NA NA NA NA NA AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 NA NA NA NA NA NA AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT natural 1203 1593 0.811232631541793 0.844534237834669 0.827883434688231 2882 5673 0.88952025243266 0.910303383365395 0.899911817899027 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0 0 0 0 0.827883434688231 0.899911817899027 0 0 0 FALSE FALSE NA NA NA NA NA LDB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LDB1 NA NA NA ENSG00000198728 ENSE00000987603 NA NA NA NA NA NA NA 0.879454004833888 FALSE NA ENSE00000987603_001 ENSE00000987603 001 10 103869319 103869488 - 38 84 48 A C 103869335 2381 154 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTGTCTGCCCCAGTCCATT 102109561 102109731 102109577 102109578 102109578 downstr_intron 22 1.59459459459459 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTGTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 56 93 0.85 0.85 0.85 323 38 0.985590145129309 0.977418806939277 0.981504476034293 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 0.0960698926966499 0.0671154235738824 0.827883434688231 0.899911817899027 0.0221165653117689 0.0815926581352662 0.0594760928234973 FALSE FALSE 0 0.03 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 8/10 rs202144932 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AAA A,C 8.236e-06 10:102109578 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant -0.198455 0.2001 0.18617 0.295142 0.55539323298178 0.088125 0.879454004833888 FALSE NA ENSE00000987603_002 ENSE00000987603 002 10 103869319 103869488 - 38 84 48 C A 103869337 2382 152 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCATTTTCTGCCCCAGTCCATT 102109561 102109731 102109579 102109580 102109580 downstr_intron 20 1.54054054054054 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCATTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 132 217 0.85 0.85 0.85 934 206 0.86681294847712 0.89626326469141 0.881538106584265 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582069 0.00546576216533079 -0.0227073039555393 -0.0140401186739851 0.827883434688231 0.899911817899027 0.0221165653117689 -0.0183737113147622 0.0404902766265311 FALSE FALSE 0 -1.416 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 8/10 rs374224087 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 ACT C,A 0.0001318 10:102109580 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant -0.397456 0.17439 0.2858 0.295142 0.521664546133841 0.088125 0.879454004833888 FALSE 0.000113704 ENSE00000987603_003 ENSE00000987603 003 10 103869319 103869488 - 38 84 48 G A 103869344 2383 145 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGATCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109586 102109587 102109587 downstr_intron 13 1.35135135135135 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGATCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 161 216 0.85 0.85 0.85 165 268 0.900132139774822 0.910845613595105 0.905488876684963 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582069 0.0054657621653309 0.0106118873421623 0.000542230229709895 0.827883434688231 0.899911817899027 0.0221165653117689 0.00557705878593612 0.0165395065258328 FALSE FALSE 0 -0.814 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 8/10 rs201593809 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGT G,A 8.236e-06 10:102109587 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant -0.701526 0.12195 0.02147 0.295142 0.428260005213346 0.088125 0.879454004833888 FALSE NA ENSE00000987603_004 ENSE00000987603 004 10 103869319 103869488 - 38 84 48 C T 103869346 2384 143 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCAACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109588 102109589 102109589 downstr_intron 11 1.2972972972973 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCAACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 228 230 0.85 0.85 0.85 1518 709 0.852749838720747 0.800383477744956 0.826566658232852 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 -0.0367704137119127 -0.109919905620439 0.827883434688231 0.899911817899027 0.0221165653117689 -0.0733451596661756 0.0954617249779445 FALSE FALSE 0 -0.956 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 8/10 1 NA TCG C,T 1.647e-05 10:102109589 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant -0.482402 0.17897 0.10061 0.295142 0.595597306389523 0.148288 0.879454004833888 FALSE 8.12163e-06 ENSE00000987603_005 ENSE00000987603 005 10 103869319 103869488 - 38 84 48 G A 103869347 2385 142 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCTGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109589 102109590 102109590 downstr_intron 10 1.27027027027027 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCTGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 26 25 0.85 0.85 0.85 NA NA NA NA NA 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 NA NA 0.827883434688231 0.899911817899027 0.0221165653117689 NA NA NA FALSE 0 -0.051 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 8/10 1 NA CGG G,A 8.236e-06 10:102109590 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant -0.689634 0.17539 0.04987 0.295142 0.69683852759354 0.19603 0.879454004833888 FALSE 8.12143e-06 ENSE00000987603_006 ENSE00000987603 006 10 103869319 103869488 - 38 84 48 T C 103869367 2386 122 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAGCTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109609 102109610 102109610 exon -11 0.880952380952381 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAGCTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 263 332 0.85 0.85 0.85 442 1388 0.877101893166669 0.836924195510554 0.857013044338611 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582072 0.00546576216533079 -0.012418359265991 -0.0733791878548408 0.827883434688231 0.899911817899027 0.022116565311769 -0.0428987735604159 0.0650153388721849 FALSE FALSE 1 8.042 . missense_variant MODERATE LDB1 HGNC 6532 ENST00000425280 8/11 1 deleterious(0.02) probably_damaging(0.987) NA GTT T,C 8.236e-06 10:102109610 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 missense_variant 4.972276 0.95422 0.97846 0.706548 0.99863825289604 0 0.879454004833888 FALSE 1.21817e-05 ENSE00000987603_007 ENSE00000987603 007 10 103869319 103869488 - 38 84 48 G T 103869369 2387 120 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTAAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109611 102109612 102109612 exon -13 0.857142857142857 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTAAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant NA NA NA NA NA 50 391 0.053298901739115 0.0308431961192093 0.0420710489291621 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 NA NA -0.836221350693545 -0.879460187246186 0.827883434688231 0.899911817899027 NA -0.857840768969865 NA TRUE NA 1 2.268 . synonymous_variant LOW LDB1 HGNC 6532 ENST00000425280 8/11 1 NA TGA G,T 1.647e-05 10:102109612 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 synonymous_variant 0.625732 0.92757 0.94575 0.706548 0.657035699932703 0 0.879454004833888 FALSE 8.1211e-06 ENSE00000987603_008 ENSE00000987603 008 10 103869319 103869488 - 38 84 48 T C 103869379 2388 110 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAGTTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109621 102109622 102109622 exon -23 0.738095238095238 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAGTTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 18 55 0.85 0.92923326899735 0.889616634498675 1610 316 0.971103797661058 0.971755431123969 0.971429614392514 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.0846990311626811 0.0815835452283983 0.0614520477585746 0.827883434688231 0.899911817899027 0.0617331998104441 0.0715177964934864 0.00978459668304238 FALSE FALSE 1 8.042 . missense_variant MODERATE LDB1 HGNC 6532 ENST00000425280 8/11 1 tolerated(0.14) probably_damaging(0.987) NA ATT T,C 8.236e-06 10:102109622 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 missense_variant 3.779641 0.95171 0.97326 0.706548 0.998232267850317 0 0.879454004833888 FALSE 4.06055e-06 ENSE00000987603_009 ENSE00000987603 009 10 103869319 103869488 - 38 84 48 C T 103869384 2389 105 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTATCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109626 102109627 102109627 exon -28 0.678571428571429 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTATCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 171 264 0.85 0.85 0.85 14 83 0.851242086444118 0.803482189513067 0.827362137978592 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 -0.0382781659885414 -0.106821193852328 0.827883434688231 0.899911817899027 0.0221165653117689 -0.0725496799204348 0.0946662452322037 FALSE FALSE 1 0.538 . synonymous_variant LOW LDB1 HGNC 6532 ENST00000425280 8/11 1 NA ACA C,T 8.236e-06 10:102109627 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 synonymous_variant 2.042147 0.9033 0.84996 0.719381 0.705221283475935 0 0.879454004833888 FALSE 4.06055e-06 ENSE00000987603_010 ENSE00000987603 010 10 103869319 103869488 - 38 84 48 A G 103869390 2390 99 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGCGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109632 102109633 102109633 exon -34 0.607142857142857 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGCGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 69 123 0.882089317437426 0.879343678950644 0.880716498194035 676 65 0.993104948443396 0.990721608180212 0.991913278311804 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0708566858956335 0.0348094411159748 0.103584696010736 0.080418224814817 0.827883434688231 0.899911817899027 0.0528330635058042 0.0920014604127767 0.0391683969069725 FALSE FALSE 1 2.061 . synonymous_variant LOW LDB1 HGNC 6532 ENST00000425280 8/11 1 NA CAC A,G 8.236e-06 10:102109633 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 synonymous_variant 0.459 0.92146 0.88209 0.719381 0.74341105663566 0 0.879454004833888 FALSE 4.06055e-06 ENSE00000987603_011 ENSE00000987603 011 10 103869319 103869488 - 38 84 48 A C 103869392 2391 97 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGGGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109634 102109635 102109635 exon -36 0.583333333333333 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGGGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 36 76 0 0 0 476 1087 0.0109514278826028 0.0850703641685132 0.048010896025558 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 -0.811232631541793 -0.844534237834669 -0.878568824550057 -0.825233019196882 0.827883434688231 0.899911817899027 -0.827883434688231 -0.851900921873469 0.0240174871852381 TRUE TRUE 1 6.121 . missense_variant MODERATE LDB1 HGNC 6532 ENST00000425280 8/11 1 tolerated(0.33) probably_damaging(0.996) NA CAC A,C 8.236e-06 10:102109635 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 missense_variant 3.363917 0.95247 0.96241 0.719381 0.961707812469729 0 0.879454004833888 FALSE 4.06055e-06 ENSE00000987603_012 ENSE00000987603 012 10 103869319 103869488 - 38 84 48 G C 103869399 2392 90 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATGACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109641 102109642 102109642 exon 42 0.5 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATGACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant NA NA NA NA NA 57 1433 0.997813679654159 0.984851835307644 0.991332757480901 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 NA NA 0.108293427221499 0.0745484519422491 0.827883434688231 0.899911817899027 NA 0.0914209395818741 NA FALSE NA 1 1.889 . missense_variant MODERATE LDB1 HGNC 6532 ENST00000425280 8/11 1 deleterious(0.02) probably_damaging(0.994) NA TGA G,C 8.236e-06 10:102109642 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 missense_variant 5.004636 0.92848 0.9383 0.719381 0.996910495595499 0 0.879454004833888 FALSE 4.06055e-06 ENSE00000987603_013 ENSE00000987603 013 10 103869319 103869488 - 38 84 48 G C 103869416 2393 73 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATGAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109658 102109659 102109659 exon 25 0.297619047619048 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATGAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant NA NA NA NA NA 641 576 0.986911828250995 0.98009652327174 0.983504175761368 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 NA NA 0.0973915758183357 0.0697931399063455 0.827883434688231 0.899911817899027 NA 0.0835923578623406 NA FALSE NA 1 9.873 rs139160379 missense_variant MODERATE LDB1 HGNC 6532 ENST00000425280 8/11 rs139160379 1 tolerated(0.12) benign(0.261) NA C:0 C:0.0002 TGA G,C 1.647e-05 10:102109659 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 missense_variant 2.848751 0.97546 0.98917 0.719381 0.992886595091924 0 0.879454004833888 FALSE 1.62423e-05 ENSE00000987603_014 ENSE00000987603 014 10 103869319 103869488 - 38 84 48 A G 103869422 2394 67 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGCTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109664 102109665 102109665 exon 19 0.226190476190476 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGCTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 40 55 0.85 0.85 0.85 483 408 0.973846917547047 0.968773742778903 0.971310330162975 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 0.0843266651143872 0.0584703594135085 0.827883434688231 0.899911817899027 0.0221165653117689 0.0713985122639479 0.049281946952179 FALSE FALSE 1 1.027 rs141606958 synonymous_variant LOW LDB1 HGNC 6532 ENST00000425280 8/11 rs141606958 1 NA G:0.0002 G:0 AAC A,G 8.236e-06 10:102109665 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 synonymous_variant 0.842632 0.90138 0.59347 0.719381 0.678015930021148 0 0.879454004833888 FALSE NA ENSE00000987603_015 ENSE00000987603 015 10 103869319 103869488 - 38 84 48 C A 103869423 2395 66 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATTTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109665 102109666 102109666 exon 18 0.214285714285714 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATTTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant NA NA NA NA NA 1185 95 0.0445126925435066 0.00338665135815021 0.0239496719508284 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 NA NA -0.845007559889153 -0.906916732007245 0.827883434688231 0.899911817899027 NA -0.875962145948199 NA TRUE NA 1 7.82 rs147037173 missense_variant MODERATE LDB1 HGNC 6532 ENST00000425280 8/11 rs147037173 1 tolerated(0.29) probably_damaging(0.929) NA A:0.0002 A:0 ACA C,A 8.236e-06 10:102109666 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 missense_variant 5.790856 0.9749 0.98391 0.719381 0.994370732578231 0 0.879454004833888 FALSE NA ENSE00000987603_016 ENSE00000987603 016 10 103869319 103869488 - 38 84 48 G A 103869438 2396 51 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCTCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109680 102109681 102109681 exon 3 0.0357142857142857 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCTCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant NA NA NA NA NA 172 484 0.983607972712771 0.963755440469478 0.973681706591125 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 NA NA 0.0940877202801118 0.053452057104083 0.827883434688231 0.899911817899027 NA 0.0737698886920974 NA FALSE NA 1 1.883 . splice_region_variant&synonymous_variant LOW LDB1 HGNC 6532 ENST00000425280 8/11 1 NA GGG G,A 1.647e-05 10:102109681 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 splice_region_variant 1.657608 0.91702 0.93851 0.719381 0.902169388586711 0 0.879454004833888 FALSE 8.1213e-06 ENSE00000987603_017 ENSE00000987603 017 10 103869319 103869488 - 38 84 48 A G 103869443 2397 46 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCCAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109685 102109686 102109686 upstr_intron -3 -0.0416666666666667 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCCAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 253 446 0.85 0.85 0.85 253 1389 0.975057116464743 0.949299348858588 0.962178232661665 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533068 0.0855368640320838 0.0389959654931928 0.827883434688231 0.899911817899027 0.0221165653117689 0.0622664147626383 0.0401498494508695 FALSE FALSE 0.078 0.528 . splice_region_variant&intron_variant LOW LDB1 HGNC 6532 ENST00000425280 7/10 1 NA TAG A,G 8.236e-06 10:102109686 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 splice_region_variant 0.463404 0.31122 0.0767 0.160075 0.760460523358538 0.434169 0.879454004833888 FALSE 4.06085e-06 ENSE00000987603_018 ENSE00000987603 018 10 103869319 103869488 - 38 84 48 A G 103869445 2398 44 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACCCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109687 102109688 102109688 upstr_intron -5 -0.0833333333333333 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACCCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 274 226 0.85 0.85 0.85 NA NA NA NA NA 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 NA NA 0.827883434688231 0.899911817899027 0.0221165653117689 NA NA NA FALSE 0.001 0.276 . splice_region_variant&intron_variant LOW LDB1 HGNC 6532 ENST00000425280 7/10 1 NA GAG A,G 8.236e-06 10:102109688 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 splice_region_variant 0.472913 0.23437 0.4175 0.093477 0.786823350706334 0.294498 0.879454004833888 FALSE 4.06091e-06 ENSE00000987603_019 ENSE00000987603 019 10 103869319 103869488 - 38 84 48 G A 103869446 2399 43 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCATTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109688 102109689 102109689 upstr_intron -6 -0.104166666666667 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCATTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 93 180 0.85 0.85 0.85 474 1151 0.958109939592276 0.957294750288474 0.957702344940375 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 0.0685896871596164 0.0469913669230796 0.827883434688231 0.899911817899027 0.0221165653117689 0.057790527041348 0.0356739617295791 FALSE FALSE 0 -0.016 . splice_region_variant&intron_variant LOW LDB1 HGNC 6532 ENST00000425280 7/10 rs367758586 1 NA A:0.0002 A:0.0001 AGT G,A 0.0001071 10:102109689 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 splice_region_variant 0.851657 0.19478 0.26676 0.093477 0.708684830742765 0.292855 0.879454004833888 FALSE 0.000101522 ENSE00000987603_020 ENSE00000987603 020 10 103869319 103869488 - 38 84 48 G T 103869449 2400 40 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCACACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109691 102109692 102109692 upstr_intron -9 -0.166666666666667 AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCACACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 59 55 0.85 0.85 0.85 NA NA NA NA NA 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 NA NA 0.827883434688231 0.899911817899027 0.0221165653117689 NA NA NA FALSE 0 -0.808 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 7/10 rs570342921 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GGG G,T 8.236e-06 10:102109692 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant 1.152285 0.25133 0.42183 0.093477 0.791442271438228 0.26946 0.879454004833888 FALSE 1.62443e-05 ENSE00000987603_021 ENSE00000987603 021 10 103869319 103869488 - 38 84 48 A C 103869465 2401 24 AGGCAACCCAGGTGTCAGTGTTCGTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109707 102109708 102109708 upstr_intron -25 -0.5 AGGCAACCCAGGTGTCAGTGTTCGTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 105 161 0.839488412316765 0.85 0.844744206158382 1377 275 0.779283800634391 0.832697133298279 0.805990466966335 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0282557807749718 0.00546576216533079 -0.110236451798269 -0.0776062500671156 0.827883434688231 0.899911817899027 0.0168607714701513 -0.0939213509326922 0.110782122402844 FALSE FALSE 0.931 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:102109708 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant 1.212999 0.25821 0.54375 0.160075 0.849107256232004 0.700464 0.879454004833888 FALSE 7.31107e-05 ENSE00000987603_022 ENSE00000987603 022 10 103869319 103869488 - 38 84 48 A G 103869465 2402 24 AGGCAACCCAGGTGTCAGTGTTCCTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109707 102109708 102109708 upstr_intron -25 -0.5 AGGCAACCCAGGTGTCAGTGTTCCTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 162 359 0.85 0.846907384997173 0.848453692498586 64 666 0.8 0.804340631393746 0.802170315696873 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00237314716250336 -0.0895202524326595 -0.105962751971649 0.827883434688231 0.899911817899027 0.0205702578103552 -0.0977415022021541 0.118311760012509 FALSE FALSE 0.931 0.687 NA NA NA LDB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LDB1 NA NA NA ENSG00000198728 ENSE00000987603 intron_variant 1.422751 0.24308 0.5042 0.160075 0.86819778251188 0.700464 0.879454004833888 FALSE 8.12341e-06 ENSE00000987603_023 ENSE00000987603 023 10 103869319 103869488 - 38 84 48 G C 103869466 2403 23 AGGCAACCCAGGTGTCAGTGTTGTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109708 102109709 102109709 upstr_intron -26 -0.520833333333333 AGGCAACCCAGGTGTCAGTGTTGTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 89 77 0.85 0.85 0.85 227 706 0.966197524010614 0.93846215518642 0.952329839598517 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 0.0766772715779541 0.028158771821025 0.827883434688231 0.899911817899027 0.0221165653117689 0.0524180216994896 0.0303014563877206 FALSE FALSE 0.889 0.279 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 7/10 rs200400961 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 AGA G,C 2.471e-05 10:102109709 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant 1.346672 0.22189 0.79055 0.160075 0.831614310046248 0.205292 0.879454004833888 FALSE 1.62479e-05 ENSE00000987603_024 ENSE00000987603 024 10 103869319 103869488 - 38 84 48 A G 103869467 2404 22 AGGCAACCCAGGTGTCAGTGTCCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109709 102109710 102109710 upstr_intron -27 -0.541666666666667 AGGCAACCCAGGTGTCAGTGTCCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 218 424 0.824440244848123 0.85 0.837220122424062 61 643 0.733636659995662 0.8 0.766818329997831 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0132076133063304 0.00546576216533079 -0.155883592436997 -0.110303383365395 0.827883434688231 0.899911817899027 0.00933668773583057 -0.133093487901196 0.142430175637027 FALSE FALSE 0.892 1.081 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 7/10 1 NA GAA A,G 8.236e-06 10:102109710 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant 1.413067 0.15965 0.65294 0.160075 0.859866714809791 0.205292 0.879454004833888 FALSE 4.06174e-06 ENSE00000987603_025 ENSE00000987603 025 10 103869319 103869488 - 38 84 48 C T 103869469 2405 20 AGGCAACCCAGGTGTCAGTATTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109711 102109712 102109712 upstr_intron -29 -0.583333333333333 AGGCAACCCAGGTGTCAGTATTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 236 388 0.85 0.85 0.85 180 577 0.885862265504632 0.844328512426386 0.865095388965509 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0387673684582071 0.00546576216533079 -0.0036579869280271 -0.0659748709390089 0.827883434688231 0.899911817899027 0.0221165653117689 -0.034816428933518 0.0569329942452869 FALSE FALSE 0 -0.939 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 7/10 1 NA ACA C,T 2.471e-05 10:102109712 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant 1.916805 0.18332 0.10542 0.160075 0.810218824028271 0.205292 0.879454004833888 FALSE 2.84361e-05 ENSE00000987603_026 ENSE00000987603 026 10 103869319 103869488 - 38 84 48 C T 103869471 2406 18 AGGCAACCCAGGTGTCAATGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109713 102109714 102109714 upstr_intron -31 -0.625 AGGCAACCCAGGTGTCAATGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant NA NA NA NA NA 98 1115 0.999579309337937 0.996796766616832 0.998188037977385 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 NA NA 0.110059056905278 0.0864933832514373 0.827883434688231 0.899911817899027 NA 0.0982762200783574 NA FALSE NA 0 -1.208 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 7/10 1 NA ACT C,T 8.236e-06 10:102109714 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant 1.64392 0.1603 0.07669 0.160075 0.647169119798873 0.205292 0.879454004833888 FALSE 8.12618e-06 ENSE00000987603_027 ENSE00000987603 027 10 103869319 103869488 - 38 84 48 C T 103869475 2407 14 AGGCAACCCAGGTATCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 102109717 102109718 102109718 upstr_intron -35 -0.708333333333333 AGGCAACCCAGGTATCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT mutant 97 190 0.844328459526218 0.85 0.847164229763109 564 47 0.938377370476422 0.946687034668972 0.942532202572697 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 0.0330958279844247 0.00546576216533079 0.0488571180437628 0.0363836513035767 0.827883434688231 0.899911817899027 0.0192807950748777 0.0426203846736697 0.023339589598792 FALSE FALSE 0 -0.415 . intron_variant MODIFIER LDB1 HGNC 6532 ENST00000425280 7/10 1 NA ACA C,T 8.237e-06 10:102109718 LDB1 HGNC Symbol protein_coding 12893 ENSG00000198728 ENSE00000987603 intron_variant 2.04727 0.14964 0.16756 0.160075 0.81854985038486 0.205292 0.879454004833888 FALSE 4.06418e-06 ENSE00000987603_BRK ENSE00000987603 BRK 10 103869319 103869488 - 38 84 48 A,G; T,T NA NA NA AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTTTGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGACCGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT 102109561 102109731 NA NA NA NA NA NA AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTTTGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGACCGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT AGGCAACCCAGGTGTCAGTGTTCTTTCTTGTCTTTTCTCCCACTCTAGGCCCAAGACCCCCAGATGTTGGATCAGCTCTCCAAAAACATCACTCGGTGTGGGCTGTCCAATTCCACTCTCAACTACCTCCGAGTGAGTCTCCGACCACCCAGTTTCTGCCCCAGTCCATT control 263 139 0 0 0 732 1245 0 0.000256909923760506 0.000128454961880253 0.811232631541793 0.844534237834669 0.88952025243266 0.910303383365395 -0.811232631541793 -0.844534237834669 -0.88952025243266 -0.910046473441634 0.827883434688231 0.899911817899027 -0.827883434688231 -0.899783362937147 0.0718999282489159 TRUE TRUE NA NA NA NA NA LDB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LDB1 NA NA NA ENSG00000198728 ENSE00000987603 NA NA NA NA NA NA NA 0.879454004833888 FALSE NA ENSE00000987787_000 ENSE00000987787 000 10 127798297 127798466 - 47 66 57 NA NA NA NA NA CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 NA NA NA NA NA NA CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG natural 11 85 0.985792267727215 0.869496610727578 0.927644439227397 4795 1818 0.920379794358405 0.991998943366153 0.956189368862279 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 0 0 0 0 0.927644439227397 0.956189368862279 0 0 0 FALSE FALSE NA NA NA NA NA ADAM12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM12 NA NA NA ENSG00000148848 ENSE00000987787 NA NA NA NA NA NA NA 0.341608446907088 FALSE NA ENSE00000987787_001 ENSE00000987787 001 10 127798297 127798466 - 47 66 57 C T 127798314 2848 153 CTTTTATCTCTAACCAATCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109744 126109745 126109745 downstr_intron 30 1.65217391304348 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGATTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 25 429 1 1 1 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0796202056415954 0.00800105663384676 0.927644439227397 0.956189368862279 NA 0.0438106311377211 NA FALSE NA 0 -1.729 . intron_variant MODIFIER ADAM12 HGNC 190 ENST00000368679 7/22 rs200107925 1 T:0.0010 T:0.0023 T:0 NA T:0.001 T:0 T:0.001 T:0.0011 T:0 ACC C,T 0.0003212 10:126109745 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 intron_variant 0.041447 0.18364 0.0389 0.053691 0.747896667328205 0.0682314 0.341608446907088 FALSE 0.000408868 ENSE00000987787_004 ENSE00000987787 004 10 127798297 127798466 - 47 66 57 C T 127798348 2851 119 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTTGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109778 126109779 126109779 exon -5 0.939393939393939 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCAAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 390 314 0.981413250143694 0.9994959966971 0.990454623420397 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0610334557852894 0.00749705333094652 0.927644439227397 0.956189368862279 NA 0.034265254558118 NA FALSE NA 1 4.331 . missense_variant MODERATE ADAM12 HGNC 190 ENST00000368679 7/23 rs200657108 1 tolerated(0.16) probably_damaging(0.995) NA TCG C,T 1.647e-05 10:126109779 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 missense_variant 6.23506 0.99588 0.98064 0.553676 0.999478948863248 0 0.341608446907088 FALSE 2.03987e-05 ENSE00000987787_007 ENSE00000987787 007 10 127798297 127798466 - 47 66 57 C T 127798361 2854 106 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCATGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109791 126109792 126109792 exon -18 0.742424242424242 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCATGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 24 35 1 1 1 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0796202056415954 0.00800105663384676 0.927644439227397 0.956189368862279 NA 0.0438106311377211 NA FALSE NA 1 7.257 . missense_variant MODERATE ADAM12 HGNC 190 ENST00000368679 7/23 1 deleterious(0) probably_damaging(0.999) NA ACG C,T 1.647e-05 10:126109792 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 missense_variant 6.108322 0.99221 0.98736 0.553676 0.998660861845506 0 0.341608446907088 FALSE 4.47912e-05 ENSE00000987787_008 ENSE00000987787 008 10 127798297 127798466 - 47 66 57 G A 127798362 2855 105 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACAATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109792 126109793 126109793 exon -19 0.727272727272727 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATTGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 26 220 1 0.999106324128191 0.999553162064095 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0796202056415954 0.00710738076203765 0.927644439227397 0.956189368862279 NA 0.0433637932018165 NA FALSE NA 0.139 -0.216 . synonymous_variant LOW ADAM12 HGNC 190 ENST00000368679 7/23 rs202081020 1 NA CGA G,A 9.06e-05 10:126109793 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 synonymous_variant 1.216745 0.26625 0.05332 0.553676 0.662710042205684 0 0.341608446907088 FALSE 0.00013033 ENSE00000987787_009 ENSE00000987787 009 10 127798297 127798466 - 47 66 57 G C 127798370 2856 97 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCACCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109800 126109801 126109801 exon -27 0.606060606060606 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGGTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 1116 1560 0.95516141664539 0.995954539381504 0.975557978013447 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0347816222869859 0.00395559601535067 0.927644439227397 0.956189368862279 NA 0.0193686091511683 NA FALSE NA 1 9.15 . missense_variant MODERATE ADAM12 HGNC 190 ENST00000368679 7/23 1 deleterious(0) probably_damaging(0.99) NA AGC G,C 8.236e-06 10:126109801 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 missense_variant 5.428101 0.99617 0.9953 0.553676 0.998631583154431 0 0.341608446907088 FALSE 1.62833e-05 ENSE00000987787_010 ENSE00000987787 010 10 127798297 127798466 - 47 66 57 T G 127798386 2857 81 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTGGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109816 126109817 126109817 exon 24 0.363636363636364 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCCACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 30 93 0.865340799827146 1 0.932670399913573 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA -0.0550389945312585 0.00800105663384676 0.927644439227397 0.956189368862279 NA -0.0235189689487059 NA FALSE NA 0.577 -0.257 . synonymous_variant LOW ADAM12 HGNC 190 ENST00000368679 7/23 1 NA TTG T,G 8.236e-06 10:126109817 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 synonymous_variant -0.204373 0.97426 0.52484 0.553676 0.308965633764767 0 0.341608446907088 FALSE 4.06881e-06 ENSE00000987787_012 ENSE00000987787 012 10 127798297 127798466 - 47 66 57 G T 127798396 2859 71 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGTTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109826 126109827 126109827 exon 14 0.212121212121212 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGAACCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 589 302 1 0.994249794350544 0.997124897175272 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0796202056415954 0.00225085098439026 0.927644439227397 0.956189368862279 NA 0.0409355283129929 NA FALSE NA 1 6.017 . missense_variant MODERATE ADAM12 HGNC 190 ENST00000368679 7/23 1 tolerated(0.1) possibly_damaging(0.786) NA GGT G,T 8.236e-06 10:126109827 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 missense_variant 3.457273 0.99207 0.98424 0.553676 0.987294400546474 0 0.341608446907088 FALSE 4.07133e-06 ENSE00000987787_014 ENSE00000987787 014 10 127798297 127798466 - 47 66 57 A C 127798415 2861 52 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCCAGAGTAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109845 126109846 126109846 upstr_intron -6 -0.087719298245614 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTGGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 153 31 0.00320742801040975 0 0.00160371400520488 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA -0.917172366347995 -0.991998943366153 0.927644439227397 0.956189368862279 NA -0.954585654857074 NA TRUE NA 0.57 1.713 . splice_region_variant&intron_variant LOW ADAM12 HGNC 190 ENST00000368679 6/22 1 NA CAA A,C 8.236e-06 10:126109846 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 splice_region_variant 0.123684 0.71981 0.91967 0.053691 0.629654421268151 0.181086 0.341608446907088 FALSE NA ENSE00000987787_015 ENSE00000987787 015 10 127798297 127798466 - 47 66 57 G A 127798419 2862 48 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAATAAACATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109849 126109850 126109850 upstr_intron -10 -0.157894736842105 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTATTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 1450 12 0.998352112205259 0.986586818265123 0.992469465235191 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0779723178468542 -0.00541212510103017 0.927644439227397 0.956189368862279 NA 0.036280096372912 NA FALSE NA 0.001 0.285 . intron_variant MODIFIER ADAM12 HGNC 190 ENST00000368679 6/22 1 NA AGT G,A 8.236e-06 10:126109850 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 intron_variant 0.397877 0.28225 0.02872 0.053691 0.659551003043889 0.0832163 0.341608446907088 FALSE 1.22461e-05 ENSE00000987787_016 ENSE00000987787 016 10 127798297 127798466 - 47 66 57 C T 127798424 2863 43 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAATATGCACTTAATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109854 126109855 126109855 upstr_intron -15 -0.245614035087719 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATATTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 70 338 0.999410606652974 1 0.999705303326487 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0790308122945697 0.00800105663384676 0.927644439227397 0.956189368862279 NA 0.0435159344642082 NA FALSE NA 0 -1.592 . intron_variant MODIFIER ADAM12 HGNC 190 ENST00000368679 6/22 rs374972418 1 NA T:0.0002 T:0 ACA C,T 8.236e-06 10:126109855 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 intron_variant 0.108883 0.21844 0.03552 0.053691 0.474805995947804 0.0734163 0.341608446907088 FALSE 4.0848e-06 ENSE00000987787_017 ENSE00000987787 017 10 127798297 127798466 - 47 66 57 A T 127798433 2864 34 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTTATCTCTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109863 126109864 126109864 upstr_intron -24 -0.403508771929825 CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATAAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 169 293 0.998181506674826 0.994351369750251 0.996266438212539 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0778017123164216 0.00235242638409761 0.927644439227397 0.956189368862279 NA 0.0400770693502596 NA FALSE NA 0.018 1.119 . intron_variant MODIFIER ADAM12 HGNC 190 ENST00000368679 6/22 rs370065415 1 NA T:0 T:0.0001 TAA A,T 8.236e-06 10:126109864 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 intron_variant 0.140908 0.33264 0.30515 0.053691 0.604471192703441 0.0734163 0.341608446907088 FALSE 4.10421e-06 ENSE00000987787_019 ENSE00000987787 019 10 127798297 127798466 - 47 66 57 T A 127798437 2866 30 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCACTCTTAATGCCTCTCTGGCATTAAGACTG 126109727 126109897 126109867 126109868 126109868 upstr_intron -28 -0.473684210526316 CAGTCTTAATGCCAGAGAGGCATTAAGAGTGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 575 588 1 1 1 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0796202056415954 0.00800105663384676 0.927644439227397 0.956189368862279 NA 0.0438106311377211 NA FALSE NA 0.006 0.006 . intron_variant MODIFIER ADAM12 HGNC 190 ENST00000368679 6/22 1 NA CTC T,A 8.236e-06 10:126109868 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 intron_variant 0.274052 0.26916 0.12804 0.053691 0.584848335746488 0.0734163 0.341608446907088 FALSE 4.11336e-06 ENSE00000987787_020 ENSE00000987787 020 10 127798297 127798466 - 47 66 57 C A 127798447 2867 20 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGACTCTCTGGCATTAAGACTG 126109727 126109897 126109877 126109878 126109878 upstr_intron -38 -0.649122807017544 CAGTCTTAATGCCAGAGAGTCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 71 763 0.966135196168632 0.999097114369155 0.982616155268894 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0457554018102276 0.00709817100300192 0.927644439227397 0.956189368862279 NA 0.0264267864066148 NA FALSE NA 0 0.156 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:126109878 ADAM12 HGNC Symbol protein_coding 376074 ENSG00000148848 ENSE00000987787 intron_variant 0.328639 0.227 0.13089 0.053691 0.695226710960634 0.0517322 0.341608446907088 FALSE 4.16646e-06 ENSE00000987787_021 ENSE00000987787 021 10 127798297 127798466 - 47 66 57 C T 127798447 2868 20 CTTTTATCTCTAACCAACCATACTGAGAAATTTTAAAAAGTTCTTACCTCTCGGTTGTCTGCCACGATCACCAGCTCCACATACTTAGTTGCCTTGAGGGTCTCTCTTTTATGCTGCCAAGAGTAAACATGCACTTAATCTCTCTTAATGTCTCTCTGGCATTAAGACTG 126109727 126109897 126109877 126109878 126109878 upstr_intron -38 -0.649122807017544 CAGTCTTAATGCCAGAGAGACATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG CAGTCTTAATGCCAGAGAGGCATTAAGAGAGATTAAGTGCATGTTTACTCTTGGCAGCATAAAAGAGAGACCCTCAAGGCAACTAAGTATGTGGAGCTGGTGATCGTGGCAGACAACCGAGAGGTAAGAACTTTTTAAAATTTCTCAGTATGGTTGGTTAGAGATAAAAG mutant NA NA NA NA NA 1098 369 0.999220976214561 0.999571161763106 0.999396068988833 0.985792267727215 0.869496610727578 0.920379794358405 0.991998943366153 NA NA 0.0788411818561561 0.00757221839695288 0.927644439227397 0.956189368862279 NA 0.0432067001265545 NA FALSE NA 0 0.156 NA NA NA ADAM12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM12 NA NA NA ENSG00000148848 ENSE00000987787 intron_variant 0.287054 0.2308 0.04321 0.053691 0.696893041622387 0.0517322 0.341608446907088 FALSE 4.16646e-06 ENSE00000988842_000 ENSE00000988842 000 11 45975048 45975217 - 30 99 41 NA NA NA NA NA TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 NA NA NA NA NA NA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA natural NA NA NA NA NA 4077 2586 0.911865716621015 0.992914225138609 0.952389970879812 NA NA 0.911865716621015 0.992914225138609 NA NA 0 0 NA 0.952389970879812 NA 0 NA FALSE NA NA NA NA NA NA PHF21A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHF21A NA NA NA ENSG00000135365 ENSE00003665725 NA NA NA NA NA NA NA 0.999675486100741 TRUE NA ENSE00000988842_001 ENSE00000988842 001 11 45975048 45975217 - 30 99 41 G T 45975063 1148 155 TGAGACCTGCCTTTGTAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953511 45953512 45953512 downstr_intron 15 1.51724137931034 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTACAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 92 334 1 1 1 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0881342833789848 0.00708577486139117 NA 0.952389970879812 NA 0.047610029120188 NA FALSE NA 0.002 0.392 . intron_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/9 1 NA GGA G,T 8.236e-06 11:45953512 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 intron_variant 0.097696 0.23944 0.18496 0.295142 0.511593442900673 0.0455939 0.999675486100741 TRUE 1.22033e-05 ENSE00000988842_002 ENSE00000988842 002 11 45975048 45975217 - 30 99 41 T C 45975069 1149 149 TGAGACCTGCCTTTGGAAACACAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953517 45953518 45953518 downstr_intron 9 1.31034482758621 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTGTGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 224 101 0.991686718826221 1 0.995843359413111 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0798210022052058 0.00708577486139117 NA 0.952389970879812 NA 0.0434533885332985 NA FALSE NA 0 -0.183 . intron_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/9 rs550815548 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATA T,C 0.0002636 11:45953518 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 intron_variant -0.282489 0.15962 0.08651 0.295142 0.440691365425872 0.0528747 0.999675486100741 TRUE 0.000227653 ENSE00000988842_004 ENSE00000988842 004 11 45975048 45975217 - 30 99 41 G A 45975095 1151 123 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCATTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953543 45953544 45953544 exon -18 0.828282828282828 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAATGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 411 464 0.999296974504691 1 0.999648487252345 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0874312578836755 0.00708577486139117 NA 0.952389970879812 NA 0.0472585163725333 NA FALSE NA 1 6.68 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 1 NA CGT G,A 1.647e-05 11:45953544 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 missense_variant 7.833202 0.99165 0.97626 0.706298 0.999244298243017 0 0.999675486100741 TRUE 8.12493e-06 ENSE00000988842_005 ENSE00000988842 005 11 45975048 45975217 - 30 99 41 G C 45975105 1152 113 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTCGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953553 45953554 45953554 exon -28 0.727272727272727 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCGAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 155 503 1 0.996204370395976 0.998102185197988 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0881342833789848 0.00329014525736726 NA 0.952389970879812 NA 0.045712214318176 NA FALSE NA 1 1.124 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 1 NA TGG G,C 8.236e-06 11:45953554 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 synonymous_variant 0.664416 0.97405 0.77309 0.706298 0.73937311934282 0 0.999675486100741 TRUE 8.124e-06 ENSE00000988842_006 ENSE00000988842 006 11 45975048 45975217 - 30 99 41 G A 45975120 1153 98 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGAGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953568 45953569 45953569 exon -43 0.575757575757576 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACTCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant 12 14 0.979075759414048 0.85 0.914537879707024 208 838 0.9980045036962 0.991024592186792 0.994514547941496 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0861387870751852 -0.00188963295181688 NA 0.952389970879812 NA 0.0421245770616842 NA FALSE NA 0.994 0.184 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 1 NA GGG G,A 4.118e-05 11:45953569 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 synonymous_variant 1.008167 0.96169 0.50682 0.706298 0.602699137922591 0 0.999675486100741 TRUE 2.84296e-05 ENSE00000988842_008 ENSE00000988842 008 11 45975048 45975217 - 30 99 41 G A 45975131 1155 87 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCAGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953579 45953580 45953580 exon 46 0.464646464646465 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCTGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 272 389 1 0.931692968744349 0.965846484372175 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0881342833789848 -0.0612212563942595 NA 0.952389970879812 NA 0.0134565134923627 NA FALSE NA 1 4.418 rs147438481 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 rs147438481 1 NA A:0.0002 A:0 CGG G,A 3.295e-05 11:45953580 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 missense_variant 6.91169 0.98479 0.93454 0.706298 0.999213127066877 0 0.999675486100741 TRUE 2.43671e-05 ENSE00000988842_009 ENSE00000988842 009 11 45975048 45975217 - 30 99 41 G A 45975132 1156 86 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGACTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953580 45953581 45953581 exon 45 0.454545454545455 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGTCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 261 313 0.99941235671322 1 0.99970617835661 NA NA 0.911865716621015 0.992914225138609 NA NA 0.087546640092205 0.00708577486139117 NA 0.952389970879812 NA 0.0473162074767981 NA FALSE NA 1 2.037 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 1 NA GGC G,A 8.236e-06 11:45953581 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 synonymous_variant 1.275629 0.97793 0.75916 0.706298 0.688760070071169 0 0.999675486100741 TRUE 8.12295e-06 ENSE00000988842_010 ENSE00000988842 010 11 45975048 45975217 - 30 99 41 T C 45975134 1157 84 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCCCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953582 45953583 45953583 exon 43 0.434343434343434 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGGGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 16 370 1 1 1 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0881342833789848 0.00708577486139117 NA 0.952389970879812 NA 0.047610029120188 NA FALSE NA 1 5.426 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 rs368477730 1 NA C:0 C:0.0001 CTC T,C 8.236e-06 11:45953583 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 missense_variant 2.353641 0.98976 0.96327 0.706298 0.996658353843029 0 0.999675486100741 TRUE 4.06131e-06 ENSE00000988842_012 ENSE00000988842 012 11 45975048 45975217 - 30 99 41 T C 45975144 1159 74 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGCTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953592 45953593 45953593 exon 33 0.333333333333333 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAGCAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 184 850 1 0.997174880504316 0.998587440252158 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0881342833789848 0.00426065536570708 NA 0.952389970879812 NA 0.0461974693723459 NA FALSE NA 0.969 -0.065 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 1 NA GTT T,C 3.295e-05 11:45953593 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 synonymous_variant -0.036513 0.95699 0.36598 0.706298 0.666063206633329 0 0.999675486100741 TRUE 4.06171e-05 ENSE00000988842_013 ENSE00000988842 013 11 45975048 45975217 - 30 99 41 T G 45975146 1160 72 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTGCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953594 45953595 45953595 exon 31 0.313131313131313 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGCAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 469 62 1 1 1 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0881342833789848 0.00708577486139117 NA 0.952389970879812 NA 0.047610029120188 NA FALSE NA 1 5.336 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 1 NA TTC T,G 8.236e-06 11:45953595 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 missense_variant 4.093548 0.98982 0.96756 0.706298 0.99181581059388 0 0.999675486100741 TRUE 4.06167e-06 ENSE00000988842_014 ENSE00000988842 014 11 45975048 45975217 - 30 99 41 G A 45975164 1161 54 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTAAGATTTAACTGTCTAGGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953612 45953613 45953613 exon 13 0.131313131313131 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTTACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 42 31 1 1 1 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0881342833789848 0.00708577486139117 NA 0.952389970879812 NA 0.047610029120188 NA FALSE NA 1 6.68 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 3/10 1 NA TGA G,A 8.236e-06 11:45953613 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 missense_variant 3.321179 0.99194 0.97736 0.706298 0.988687268188957 0 0.999675486100741 TRUE 4.06359e-06 ENSE00000988842_015 ENSE00000988842 015 11 45975048 45975217 - 30 99 41 G A 45975180 1162 38 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAAGAGAGAAAAATTAAATAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953628 45953629 45953629 upstr_intron -4 -0.0731707317073171 AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCTTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 1296 173 0.989862600734352 0.968224728803441 0.979043664768896 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0779968841133365 -0.0246894963351676 NA 0.952389970879812 NA 0.0266536938890845 NA FALSE NA 1 1.22 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PHF21A HGNC 24156 ENST00000527401 2/9 1 NA AGG G,A 2.471e-05 11:45953629 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 splice_region_variant 1.149848 0.76309 0.66056 0.099367 0.681397156664472 0.351353 0.999675486100741 TRUE 2.0465e-05 ENSE00000988842_016 ENSE00000988842 016 11 45975048 45975217 - 30 99 41 T C 45975196 1163 22 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAACAAAAATTCAGAATTCGTTTTT 45953496 45953666 45953644 45953645 45953645 upstr_intron -20 -0.463414634146341 AAAAACGAATTCTGAATTTTTGTTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 747 828 0.994991281642264 0.99980894739777 0.997400114520017 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0831255650212488 0.00689472225916132 NA 0.952389970879812 NA 0.0450101436402051 NA FALSE NA 0 -0.965 rs77023116 intron_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 2/9 rs77023116 1 C:0.0042 C:0.0159 C:0 NA C:0 C:0 C:0 C:0.0086 C:0 ATA T,C 0.0008735 11:45953645 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 intron_variant 0.401329 0.21508 0.09734 0.062308 0.680591097927813 0.153832 0.999675486100741 TRUE 0.000733669 ENSE00000988842_017 ENSE00000988842 017 11 45975048 45975217 - 30 99 41 A G 45975197 1164 21 TGAGACCTGCCTTTGGAAACATAGGCCTACCTGAGGGTTCTCCTCCCGTTTTGGTTTGGGTGCAGCAGGTGGGGTGATGGTGCGGCTCTCTGTTTGTTTCTCATCTGTTTCTGTGTGAGATTTAACTGTCTAGGAGAGAAAAATTAAATGAAAATTCAGAATTCGTTTTT 45953496 45953666 45953645 45953646 45953646 upstr_intron -21 -0.48780487804878 AAAAACGAATTCTGAATTTTCATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA AAAAACGAATTCTGAATTTTTATTTAATTTTTCTCTCCTAGACAGTTAAATCTCACACAGAAACAGATGAGAAACAAACAGAGAGCCGCACCATCACCCCACCTGCTGCACCCAAACCAAAACGGGAGGAGAACCCTCAGGTAGGCCTATGTTTCCAAAGGCAGGTCTCA mutant NA NA NA NA NA 392 253 1 0.999374377529796 0.999687188764898 NA NA 0.911865716621015 0.992914225138609 NA NA 0.0881342833789848 0.00646015239118725 NA 0.952389970879812 NA 0.047297217885086 NA FALSE NA 0 -1.657 . intron_variant&non_coding_transcript_variant MODIFIER PHF21A HGNC 24156 ENST00000527401 2/9 1 NA TAA A,G 1.649e-05 11:45953646 PHF21A HGNC Symbol protein_coding 191855 ENSG00000135365 ENSE00003665725 intron_variant 0.119461 0.08355 0.00196 0.062308 0.517611640562911 0.168287 0.999675486100741 TRUE 4.31652e-06 ENSE00000989799_000 ENSE00000989799 000 11 113200582 113200751 + 60 60 50 NA NA NA NA NA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 NA NA NA NA NA NA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA natural 113 95 0.995160650691017 0.970485603257076 0.982823126974047 3499 4093 0.987900847994083 0.906484311344747 0.947192579669415 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 0 0 0 0 0.982823126974047 0.947192579669415 0 0 0 FALSE FALSE NA NA NA NA NA TTC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC12 NA NA NA ENSG00000149292 ENSE00003618477 NA NA NA NA NA NA NA 1.44726952967987e-07 FALSE NA ENSE00000989799_006 ENSE00000989799 006 11 113200582 113200751 + 60 60 50 T C 113200647 2448 66 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTACATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 113329924 113329925 113329925 exon 6 0.1 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTACATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant NA NA NA NA NA 131 83 1 1 1 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 NA NA 0.0120991520059168 0.0935156886552533 0.982823126974047 0.947192579669415 NA 0.0528074203305851 NA FALSE NA 0.43 -0.607 . synonymous_variant LOW TTC12 HGNC 23700 ENST00000314756 7/22 1 NA ATA T,C 8.236e-06 11:113329925 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 synonymous_variant -1.10678 0.86069 0.11746 0.706298 0.256774543821441 0 1.44726952967987e-07 FALSE 8.12361e-06 ENSE00000989799_007 ENSE00000989799 007 11 113200582 113200751 + 60 60 50 A C 113200653 2449 72 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAACCTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 113329930 113329931 113329931 exon 12 0.2 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAACCTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant NA NA NA NA NA 333 249 0.999256128524694 0.999364318917081 0.999310223720887 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 NA NA 0.0113552805306106 0.0928800075723338 0.982823126974047 0.947192579669415 NA 0.0521176440514722 NA FALSE NA 1 1.762 . missense_variant MODERATE TTC12 HGNC 23700 ENST00000314756 7/22 1 deleterious(0) probably_damaging(1) NA AAC A,C 8.236e-06 11:113329931 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 missense_variant 3.977949 0.96861 0.85973 0.615465 0.994103289952985 0 1.44726952967987e-07 FALSE NA ENSE00000989799_010 ENSE00000989799 010 11 113200582 113200751 + 60 60 50 G C 113200680 2452 99 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTCGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 113329957 113329958 113329958 exon -22 0.65 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTCGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant NA NA NA NA NA 730 338 1 0.979823427781579 0.98991171389079 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 NA NA 0.0120991520059168 0.0733391164368326 0.982823126974047 0.947192579669415 NA 0.0427191342213747 NA FALSE NA 0.93 1.184 rs147993824 synonymous_variant LOW TTC12 HGNC 23700 ENST00000314756 7/22 COSM201375&COSM3687089&COSM3687090 1 NA TGG G,C 8.236e-06 11:113329958 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 synonymous_variant -0.194504 0.88454 0.7658 0.75658 0.501712773849374 0 1.44726952967987e-07 FALSE 4.06134e-06 ENSE00000989799_011 ENSE00000989799 011 11 113200582 113200751 + 60 60 50 G A 113200689 2453 108 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAATGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 113329966 113329967 113329967 exon -13 0.8 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAATGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant 53 16 1 1 1 NA NA NA NA NA 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 0.00483934930898267 0.029514396742924 NA NA 0.982823126974047 0.947192579669415 0.0171768730259533 NA NA NA FALSE 0.759 -0.272 . synonymous_variant LOW TTC12 HGNC 23700 ENST00000314756 7/22 1 NA AGT G,A 2.471e-05 11:113329967 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 synonymous_variant 0.068919 0.95185 0.21898 0.75658 0.425315180208274 0 1.44726952967987e-07 FALSE 1.21847e-05 ENSE00000989799_012 ENSE00000989799 012 11 113200582 113200751 + 60 60 50 G A 113200709 2454 128 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGAGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 113329986 113329987 113329987 downstr_intron 8 1.16326530612245 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGAGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant NA NA NA NA NA 368 270 0.855887944967236 1 0.927943972483618 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 NA NA -0.132012903026848 0.0935156886552533 0.982823126974047 0.947192579669415 NA -0.0192486071857972 NA FALSE NA 0.035 0.193 rs2303380 splice_region_variant&intron_variant LOW TTC12 HGNC 23700 ENST00000314756 7/21 COSM3998233&COSM3998234 1 NA GGG A,A 0.613 11:113329987 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 splice_region_variant 0.410797 0.19572 0.02255 0.093781 0.489657375328344 0.0575045 1.44726952967987e-07 FALSE 0.605798 ENSE00000989799_013 ENSE00000989799 013 11 113200582 113200751 + 60 60 50 G A 113200710 2455 129 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGATATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 113329987 113329988 113329988 downstr_intron 9 1.18367346938776 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGATATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant 32 11 0.998877219098932 1 0.999438609549466 141 1232 1 0.990021237944492 0.995010618972246 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 0.0037165684079149 0.029514396742924 0.0120991520059168 0.083536926599745 0.982823126974047 0.947192579669415 0.0166154825754194 0.0478180393028309 0.0312025567274115 FALSE FALSE 0 -2.711 . intron_variant MODIFIER TTC12 HGNC 23700 ENST00000314756 7/21 1 NA GGT G,A 1.647e-05 11:113329988 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 intron_variant 0.069933 0.10325 0.01165 0.093781 0.413966368748351 0.0575045 1.44726952967987e-07 FALSE 8.12473e-06 ENSE00000989799_016 ENSE00000989799 016 11 113200582 113200751 + 60 60 50 A G 113200726 2458 145 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACGTGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 113330003 113330004 113330004 downstr_intron 25 1.51020408163265 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACGTGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant NA NA NA NA NA 244 17 0.804763460525912 1 0.902381730262956 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 NA NA -0.183137387468171 0.0935156886552533 0.982823126974047 0.947192579669415 NA -0.044810849406459 NA FALSE NA 0 -3.513 NA NA NA TTC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113330004 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 intron_variant -0.229948 0.08975 0.01125 0.093781 0.404901020581406 0.0497963 1.44726952967987e-07 FALSE 3.25061e-05 ENSE00000989799_018 ENSE00000989799 018 11 113200582 113200751 + 60 60 50 A G 113200729 2460 148 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGGTAGTGTTGGGCTGAAGTAGATA 113329859 113330029 113330006 113330007 113330007 downstr_intron 28 1.57142857142857 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGGTAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant NA NA NA NA NA 56 62 0.999262791285645 1 0.999631395642822 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 NA NA 0.0113619432915618 0.0935156886552533 0.982823126974047 0.947192579669415 NA 0.0524388159734075 NA FALSE NA 0 -0.064 . intron_variant MODIFIER TTC12 HGNC 23700 ENST00000314756 7/21 1 NA GAT A,G 8.236e-06 11:113330007 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 intron_variant 0.160323 0.20376 0.12982 0.093781 0.711596244270155 0.0505698 1.44726952967987e-07 FALSE 4.06319e-06 ENSE00000989799_020 ENSE00000989799 020 11 113200582 113200751 + 60 60 50 G A 113200739 2462 158 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGACTGAAGTAGATA 113329859 113330029 113330016 113330017 113330017 downstr_intron 38 1.77551020408163 GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGACTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA mutant NA NA NA NA NA 1139 941 0.996485612364409 0.860976767380798 0.928731189872603 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 NA NA 0.0085847643703254 -0.0455075439639491 0.982823126974047 0.947192579669415 NA -0.0184613897968118 NA FALSE NA 0 0.171 . intron_variant MODIFIER TTC12 HGNC 23700 ENST00000314756 7/21 1 NA GGC G,A 8.237e-06 11:113330017 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003618477 intron_variant -0.099122 0.1967 0.09536 0.093781 0.279918766296655 0.0483959 1.44726952967987e-07 FALSE 8.13101e-06 ENSE00000989799_BRK ENSE00000989799 BRK 11 113200582 113200751 + 60 60 50 A,G; T,T NA NA NA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACTTGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGCCAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA 113329859 113330029 NA NA NA NA NA NA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACTTGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGCCAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA GAACTGAAAACTGCCTGATGCAGAATTGTGTGTGAATATCAGCTGTTGGTTTCATTACAGGCTTATATGAAACTTGAGGACTATGAGAAGGCACTGGTGGATTGTGAGTGGGCTCTCAAGGTAAGAGGGTATTTCTTTTCCCACATGATAGTGTTGGGCTGAAGTAGATA control 184 23 0.135562051473116 0 0.0677810257365579 931 44 0 0 0 0.995160650691017 0.970485603257076 0.987900847994083 0.906484311344747 -0.859598599217902 -0.970485603257076 -0.987900847994083 -0.906484311344747 0.982823126974047 0.947192579669415 -0.915042101237489 -0.947192579669415 0.0321504784319262 TRUE TRUE NA NA NA NA NA TTC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC12 NA NA NA ENSG00000149292 ENSE00003618477 NA NA NA NA NA NA NA 1.44726952967987e-07 FALSE NA ENSE00000989809_000 ENSE00000989809 000 11 113230044 113230213 + 41 99 30 NA NA NA NA NA AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 NA NA NA NA NA NA AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC natural 21 11 0.939902561337582 0.997165710110071 0.968534135723827 1988 2247 0.904825951051222 0.856353435688959 0.880589693370091 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 0 0 0 0 0.968534135723827 0.880589693370091 0 0 0 FALSE FALSE NA NA NA NA NA TTC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC12 NA NA NA ENSG00000149292 ENSE00003579140 NA NA NA NA NA NA NA 1.44726952967987e-07 FALSE NA ENSE00000989809_002 ENSE00000989809 002 11 113230044 113230213 + 41 99 30 T C 113230074 2464 31 AAGGCAAAAAGGTCATTGGTTACCTTGTTTCGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359351 113359352 113359352 upstr_intron -11 -0.24390243902439 AAGGCAAAAAGGTCATTGGTTACCTTGTTTCGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 23 170 0.986762247749722 0.984830763369211 0.985796505559467 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0819362966985001 0.128477327680252 0.968534135723827 0.880589693370091 NA 0.105206812189376 NA FALSE NA 0.033 1.093 . intron_variant MODIFIER TTC12 HGNC 23700 ENST00000314756 16/21 1 NA TTG T,C 1.647e-05 11:113359352 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 intron_variant 1.400961 0.21789 0.19483 0.163922 0.824801568648914 0.350802 1.44726952967987e-07 FALSE 8.23269e-06 ENSE00000989809_003 ENSE00000989809 003 11 113230044 113230213 + 41 99 30 G T 113230075 2465 32 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTTTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359352 113359353 113359353 upstr_intron -10 -0.219512195121951 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTTTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 240 1218 0.979590438265055 0.997230078969278 0.988410258617166 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0747644872138324 0.140876643280319 0.968534135723827 0.880589693370091 NA 0.107820565247076 NA FALSE NA 0.001 -0.338 . intron_variant MODIFIER TTC12 HGNC 23700 ENST00000314756 16/21 1 NA TGT G,T 2.471e-05 11:113359353 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 intron_variant 1.08107 0.19578 0.04033 0.163922 0.637959141566072 0.349125 1.44726952967987e-07 FALSE 3.70779e-05 ENSE00000989809_004 ENSE00000989809 004 11 113230044 113230213 + 41 99 30 G A 113230090 2466 47 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGATGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359367 113359368 113359368 exon 6 0.0606060606060606 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGATGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 914 212 0.995955788361142 0.916494187042577 0.956224987701859 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0911298373099202 0.0601407513536174 0.968534135723827 0.880589693370091 NA 0.0756352943317688 NA FALSE NA 0.011 -0.191 . synonymous_variant LOW TTC12 HGNC 23700 ENST00000314756 17/22 1 NA GGT G,A 2.471e-05 11:113359368 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 synonymous_variant 0.8442 0.62725 0.02844 0.6512 0.483414850522667 0 1.44726952967987e-07 FALSE 1.62977e-05 ENSE00000989809_007 ENSE00000989809 007 11 113230044 113230213 + 41 99 30 G A 113230120 2469 77 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAAGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359397 113359398 113359398 exon 36 0.363636363636364 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAAGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 808 906 0.998100113818497 0.926835649975011 0.962467881896754 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0932741627672752 0.0704822142860522 0.968534135723827 0.880589693370091 NA 0.0818781885266637 NA FALSE NA 0 -1.2 . synonymous_variant LOW TTC12 HGNC 23700 ENST00000314756 17/22 1 NA AGG G,A 8.236e-06 11:113359398 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 synonymous_variant 0.515881 0.12122 0.03375 0.732398 0.493851082884936 0 1.44726952967987e-07 FALSE NA ENSE00000989809_008 ENSE00000989809 008 11 113230044 113230213 + 41 99 30 G T 113230121 2470 78 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGTTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359398 113359399 113359399 exon 37 0.373737373737374 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGTTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 456 605 1 0.996134209019687 0.998067104509844 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0951740489487778 0.139780773330728 0.968534135723827 0.880589693370091 NA 0.117477411139753 NA FALSE NA 0 0.219 . missense_variant MODERATE TTC12 HGNC 23700 ENST00000314756 17/22 1 deleterious(0.01) possibly_damaging(0.729) NA GGT G,T 8.236e-06 11:113359399 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 missense_variant 4.03899 0.19875 0.06363 0.732398 0.994169149066552 0 1.44726952967987e-07 FALSE 4.06441e-06 ENSE00000989809_011 ENSE00000989809 011 11 113230044 113230213 + 41 99 30 G A 113230138 2473 95 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTAGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359415 113359416 113359416 exon -46 0.545454545454545 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTAGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 119 796 1 0.999038029342983 0.999519014671491 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0951740489487778 0.142684593654024 0.968534135723827 0.880589693370091 NA 0.118929321301401 NA FALSE NA 1 0.415 NA NA NA TTC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113359416 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 synonymous_variant 1.330225 0.95528 0.63819 0.732398 0.762046880792928 0 1.44726952967987e-07 FALSE 9.34488e-05 ENSE00000989809_012 ENSE00000989809 012 11 113230044 113230213 + 41 99 30 C T 113230142 2474 99 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGATTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359419 113359420 113359420 exon -42 0.585858585858586 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGATTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 370 396 0.990800097531636 0.975087887529195 0.982943992530416 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0859741464804141 0.118734451840236 0.968534135723827 0.880589693370091 NA 0.102354299160325 NA FALSE NA 0.996 1.492 . missense_variant MODERATE TTC12 HGNC 23700 ENST00000314756 17/22 1 tolerated(0.07) benign(0.224) NA ACT C,T 8.236e-06 11:113359420 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 missense_variant 3.948188 0.9788 0.81592 0.732398 0.997974489733346 0 1.44726952967987e-07 FALSE 4.06289e-06 ENSE00000989809_013 ENSE00000989809 013 11 113230044 113230213 + 41 99 30 A T 113230145 2475 102 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCTTGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359422 113359423 113359423 exon -39 0.616161616161616 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCTTGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 71 203 0.998248032350288 1 0.999124016175144 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0934220812990656 0.143646564311041 0.968534135723827 0.880589693370091 NA 0.118534322805053 NA FALSE NA 0.034 -1.588 . missense_variant MODERATE TTC12 HGNC 23700 ENST00000314756 17/22 1 tolerated(0.22) benign(0.001) NA CAT A,T 8.236e-06 11:113359423 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 missense_variant -1.189126 0.07182 0.02891 0.732398 0.462892672702252 0 1.44726952967987e-07 FALSE 8.12592e-06 ENSE00000989809_014 ENSE00000989809 014 11 113230044 113230213 + 41 99 30 A G 113230148 2476 105 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGGTGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359425 113359426 113359426 exon -36 0.646464646464647 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGGTGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 1449 416 0.745010813215677 0.809779537739544 0.77739517547761 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA -0.159815137835545 -0.0465738979494155 0.968534135723827 0.880589693370091 NA -0.10319451789248 NA FALSE NA 1 5.278 . missense_variant MODERATE TTC12 HGNC 23700 ENST00000314756 17/22 1 tolerated(0.1) benign(0.263) NA GAT A,G 1.647e-05 11:113359426 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 missense_variant 2.593496 0.98679 0.97753 0.732398 0.988688899084142 0 1.44726952967987e-07 FALSE 8.12638e-06 ENSE00000989809_015 ENSE00000989809 015 11 113230044 113230213 + 41 99 30 A G 113230164 2477 121 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCGGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359441 113359442 113359442 exon -20 0.808080808080808 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCGGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 1041 2044 0.997050331424664 0.998915215335431 0.997982773380048 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0922243803734422 0.142561779646472 0.968534135723827 0.880589693370091 NA 0.117393080009957 NA FALSE NA 0.969 2.768 . missense_variant MODERATE TTC12 HGNC 23700 ENST00000314756 17/22 1 tolerated(0.11) benign(0.008) NA CAG A,G 8.236e-06 11:113359442 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 missense_variant 2.708214 0.98021 0.9416 0.732398 0.991465704471256 0 1.44726952967987e-07 FALSE 4.06388e-06 ENSE00000989809_016 ENSE00000989809 016 11 113230044 113230213 + 41 99 30 G A 113230166 2478 123 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGACTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359443 113359444 113359444 exon -18 0.828282828282828 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGACTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 81 511 0.97507963569447 0.987733837837604 0.981406736766037 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.0702536846432481 0.131380402148644 0.968534135723827 0.880589693370091 NA 0.100817043395946 NA FALSE NA 0.001 -0.119 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113359444 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 missense_variant 1.627607 0.17662 0.02077 0.6512 0.962495610250989 0 1.44726952967987e-07 FALSE 4.06421e-06 ENSE00000989809_017 ENSE00000989809 017 11 113230044 113230213 + 41 99 30 G T 113230166 2479 123 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGTCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359443 113359444 113359444 exon -18 0.828282828282828 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGTCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 10 98 0.8 0.978890250438804 0.889445125219402 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA -0.104825951051222 0.122536814749845 0.968534135723827 0.880589693370091 NA 0.00885543184931148 NA FALSE NA 0.001 -0.119 NA NA NA TTC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC12 NA NA NA ENSG00000149292 ENSE00003579140 missense_variant 0.745951 0.16575 0.00671 0.6512 0.538181122944491 0 1.44726952967987e-07 FALSE 4.06421e-06 ENSE00000989809_019 ENSE00000989809 019 11 113230044 113230213 + 41 99 30 G A 113230181 2481 138 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTAAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 113359458 113359459 113359459 exon -3 0.97979797979798 AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTAAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC mutant NA NA NA NA NA 984 721 0.99686585189558 0.999780586006874 0.998323218951227 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA 0.092039900844358 0.143427150317915 0.968534135723827 0.880589693370091 NA 0.117733525581137 NA FALSE NA 0.984 1.372 . missense_variant&splice_region_variant MODERATE TTC12 HGNC 23700 ENST00000314756 17/22 1 tolerated(0.06) benign(0.14) NA TGA G,A 8.236e-06 11:113359459 TTC12 HGNC Symbol protein_coding 69015 ENSG00000149292 ENSE00003579140 missense_variant 4.020565 0.97192 0.8284 0.732398 0.997125368325784 0 1.44726952967987e-07 FALSE 4.06597e-06 ENSE00000989809_BRK ENSE00000989809 BRK 11 113230044 113230213 + 41 99 30 A,G; T,T NA NA NA AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCATTGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGCCATGGCATTCTTGTCTCCCTGCCTGGAGC 113359321 113359491 NA NA NA NA NA NA AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCATTGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGCCATGGCATTCTTGTCTCCCTGCCTGGAGC AAGGCAAAAAGGTCATTGGTTACCTTGTTTTGTTTCCCAAGGCCAGGTGTGAGGAGGATGTGGACCTGTTCAGAGAGGTTATCTACACACTCCTGGGACTCATGATGAACCTGTGTCTTCAGGCTCCCTTTGTCTCTGAGGTATGGCATTCTTGTCTCCCTGCCTGGAGC control NA NA NA NA NA 496 876 0 0.0333517239563184 0.0166758619781592 0.939902561337582 0.997165710110071 0.904825951051222 0.856353435688959 NA NA -0.904825951051222 -0.823001711732641 0.968534135723827 0.880589693370091 NA -0.863913831391931 NA TRUE NA NA NA NA NA NA TTC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC12 NA NA NA ENSG00000149292 ENSE00003579140 NA NA NA NA NA NA NA 1.44726952967987e-07 FALSE NA ENSE00000989842_000 ENSE00000989842 000 11 113285061 113285230 - 36 87 47 NA NA NA NA NA AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 NA NA NA NA NA NA TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT natural 916 1300 0.843389517718586 0.811252040716458 0.827320779217522 933 1323 0.956103585097939 0.848305656110882 0.902204620604411 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0 0 0 0 0.827320779217522 0.902204620604411 0 0 0 FALSE FALSE NA NA NA NA NA DRD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DRD2 NA NA NA ENSG00000149295 ENSE00003475700 NA NA NA NA NA NA NA 0.733263888671177 FALSE NA ENSE00000989842_001 ENSE00000989842 001 11 113285061 113285230 - 36 87 47 G A 113285075 2482 156 AAGACCTGGCTCTGAGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414352 113414353 113414353 downstr_intron 22 1.62857142857143 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACTCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 114 156 0.85 0.85 0.85 189 414 0.692265747923399 0.84123979076968 0.766752769346539 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0.00661048228141392 0.0387479592835425 -0.26383783717454 -0.00706586534120246 0.827320779217522 0.902204620604411 0.0226792207824782 -0.135451851257871 0.15813107204035 FALSE FALSE 0.918 0.536 . intron_variant MODIFIER DRD2 HGNC 3023 ENST00000542968 5/6 1 NA GGG G,A 8.236e-06 11:113414353 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 non_coding_transcript_exon_variant 2.615229 0.58504 0.42742 0.053691 0.862706645352818 0.330261 0.733263888671177 FALSE 4.06085e-06 ENSE00000989842_002 ENSE00000989842 002 11 113285061 113285230 - 36 87 47 T C 113285077 2483 154 AAGACCTGGCTCTGGGCCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414354 113414355 113414355 downstr_intron 20 1.57142857142857 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGGCCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 42 99 0.85 0.85 0.85 30 17 0.95 1 0.975 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0.00661048228141403 0.0387479592835425 -0.00610358509793918 0.151694343889118 0.827320779217522 0.902204620604411 0.0226792207824782 0.0727953793955894 0.0501161586131111 FALSE FALSE 0.926 1.831 . intron_variant MODIFIER DRD2 HGNC 3023 ENST00000542968 5/6 rs200084024 1 NA GTC T,C 0.0002883 11:113414355 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 non_coding_transcript_exon_variant 2.968276 0.98517 0.9115 0.053691 0.895532862371852 0.83417 0.733263888671177 FALSE 0.00029643 ENSE00000989842_003 ENSE00000989842 003 11 113285061 113285230 - 36 87 47 C T 113285101 2484 130 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTTTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414378 113414379 113414379 exon -5 0.954022988505747 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAAAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant NA NA NA NA NA 363 731 0.981521087397617 0.984458001925707 0.982989544661662 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 NA NA 0.0254175022996777 0.136152345814825 0.827320779217522 0.902204620604411 NA 0.0807849240572514 NA FALSE NA 1 4.9 rs146652676 missense_variant MODERATE DRD2 HGNC 3023 ENST00000542968 5/7 rs146652676&COSM923191 1 tolerated(1) benign(0.001) NA T:0.0002 T:0 TCT C,T 8.236e-06 11:113414379 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 missense_variant 1.867641 0.98594 0.65246 0.487112 0.849554660517004 0 0.733263888671177 FALSE 1.21818e-05 ENSE00000989842_004 ENSE00000989842 004 11 113285061 113285230 - 36 87 47 C T 113285104 2485 127 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCTGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414381 113414382 113414382 exon -8 0.919540229885057 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCAGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 111 23 0 0 0 64 361 0 0.0505512297609857 0.0252756148804929 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 -0.843389517718586 -0.811252040716458 -0.956103585097939 -0.797754426349896 0.827320779217522 0.902204620604411 -0.827320779217522 -0.876929005723918 0.0496082265063958 TRUE TRUE 1 4.642 . missense_variant MODERATE DRD2 HGNC 3023 ENST00000542968 5/7 COSM923192 1 tolerated(0.29) benign(0.001) NA CCG C,T 2.471e-05 11:113414382 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 missense_variant 4.345229 0.98827 0.84306 0.487112 0.996771605358534 0 0.733263888671177 FALSE 1.62425e-05 ENSE00000989842_005 ENSE00000989842 005 11 113285061 113285230 - 36 87 47 G T 113285105 2486 126 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCTCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414382 113414383 113414383 exon -9 0.908045977011494 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGAGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant NA NA NA NA NA 411 670 0.758402665158452 0.779552692548229 0.76897767885334 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 NA NA -0.197700919939487 -0.0687529635626531 0.827320779217522 0.902204620604411 NA -0.13322694175107 NA FALSE NA 1 2.702 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113414383 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 synonymous_variant 1.392278 0.97197 0.67692 0.487112 0.807984659011277 0 0.733263888671177 FALSE 2.03029e-05 ENSE00000989842_006 ENSE00000989842 006 11 113285061 113285230 - 36 87 47 G A 113285105 2487 126 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCACCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414382 113414383 113414383 exon -9 0.908045977011494 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGTGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant NA NA NA NA NA 220 169 0.0869262410809861 0.00217014560040941 0.0445481933406978 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 NA NA -0.869177344016953 -0.846135510510473 0.827320779217522 0.902204620604411 NA -0.857656427263713 NA TRUE NA 1 2.702 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DRD2 NA NA NA ENSG00000149295 ENSE00003475700 missense_variant 3.982836 0.97959 0.90202 0.487112 0.999091760031741 0 0.733263888671177 FALSE 1.62423e-05 ENSE00000989842_007 ENSE00000989842 007 11 113285061 113285230 - 36 87 47 C G 113285112 2488 119 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTGACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414389 113414390 113414390 exon -16 0.827586206896552 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTCAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 12 48 0.85 0.85 0.85 435 15 0.970226372792225 0.8 0.885113186396113 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0.00661048228141392 0.0387479592835425 0.0141227876942864 -0.048305656110882 0.827320779217522 0.902204620604411 0.0226792207824782 -0.0170914342082978 0.039770654990776 FALSE FALSE 1 2.4 NA NA NA DRD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113414390 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 synonymous_variant 1.116689 0.97755 0.75811 0.487112 0.837008112935769 0 0.733263888671177 FALSE 4.06055e-06 ENSE00000989842_009 ENSE00000989842 009 11 113285061 113285230 - 36 87 47 T G 113285115 2490 116 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACGGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414392 113414393 113414393 exon -19 0.793103448275862 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCCGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant NA NA NA NA NA 105 136 1 1 1 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 NA NA 0.043896414902061 0.151694343889118 0.827320779217522 0.902204620604411 NA 0.0977953793955895 NA FALSE NA 1 1.588 . synonymous_variant LOW DRD2 HGNC 3023 ENST00000542968 5/7 1 NA CTG T,G 8.236e-06 11:113414393 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 synonymous_variant 0.803407 0.97578 0.82693 0.487112 0.771108378747117 0 0.733263888671177 FALSE 1.21817e-05 ENSE00000989842_010 ENSE00000989842 010 11 113285061 113285230 - 36 87 47 T C 113285141 2491 90 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGACAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414418 113414419 113414419 exon 43 0.494252873563218 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTGTCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 91 58 0.85 0.927172423659268 0.888586211829634 146 51 0.968857523643694 0.986217016949737 0.977537270296715 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0.00661048228141392 0.11592038294281 0.0127539385457549 0.137911360838855 0.827320779217522 0.902204620604411 0.0612654326121122 0.0753326496923047 0.0140672170801925 FALSE FALSE 1 2.623 rs148827819 missense_variant MODERATE DRD2 HGNC 3023 ENST00000542968 5/7 rs148827819 1 tolerated(0.4) benign(0.001) NA C:0 C:0.0001 ATA T,C 8.236e-06 11:113414419 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 missense_variant 1.308454 0.97998 0.90099 0.487112 0.982592826373714 0 0.733263888671177 FALSE 8.1211e-06 ENSE00000989842_011 ENSE00000989842 011 11 113285061 113285230 - 36 87 47 C T 113285144 2492 87 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAATGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414421 113414422 113414422 exon 40 0.459770114942529 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCATTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 128 100 0.85 0.85 0.85 NA NA NA NA NA 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0.00661048228141381 0.0387479592835425 NA NA 0.827320779217522 0.902204620604411 0.0226792207824781 NA NA NA FALSE 1 2.163 . missense_variant MODERATE DRD2 HGNC 3023 ENST00000542968 5/7 COSM540948 1 tolerated(0.47) benign(0.39) NA ACG C,T 8.236e-06 11:113414422 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 missense_variant 3.168225 0.97443 0.78132 0.487112 0.816854862461744 0 0.733263888671177 FALSE 1.62422e-05 ENSE00000989842_012 ENSE00000989842 012 11 113285061 113285230 - 36 87 47 T C 113285159 2493 72 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCACGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414436 113414437 113414437 exon 25 0.28735632183908 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACGTGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant NA NA NA NA NA 284 809 0.951105303814851 0.990054344507236 0.970579824161043 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 NA NA -0.00499828128308777 0.141748688396354 0.827320779217522 0.902204620604411 NA 0.068375203556633 NA FALSE NA 1 3.752 . missense_variant MODERATE DRD2 HGNC 3023 ENST00000542968 5/7 1 tolerated(1) benign(0.001) NA ATG T,C 1.647e-05 11:113414437 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 missense_variant 0.038991 0.98453 0.66512 0.487112 0.829858264513298 0 0.733263888671177 FALSE 1.21817e-05 ENSE00000989842_013 ENSE00000989842 013 11 113285061 113285230 - 36 87 47 G A 113285166 2494 65 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCAGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414443 113414444 113414444 exon 18 0.206896551724138 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCTGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 23 23 0.85 0.85 0.85 745 87 0.8043171727123 0.842889956853695 0.823603564782998 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0.00661048228141392 0.0387479592835425 -0.151786412385639 -0.00541569925718677 0.827320779217522 0.902204620604411 0.0226792207824782 -0.078601055821413 0.101280276603891 FALSE FALSE 0.438 -0.407 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113414444 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 synonymous_variant 1.647886 0.23024 0.10026 0.554377 0.827173657972062 0 0.733263888671177 FALSE 0.000674051 ENSE00000989842_014 ENSE00000989842 014 11 113285061 113285230 - 36 87 47 G C 113285166 2495 65 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCCGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414443 113414444 113414444 exon 18 0.206896551724138 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCGGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant NA NA NA NA NA 21 400 0.955669501514393 0.994792683039495 0.975231092276944 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 NA NA -0.000434083583546352 0.146487026928613 0.827320779217522 0.902204620604411 NA 0.0730264716725335 NA FALSE NA 0.438 -0.407 NA NA NA DRD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DRD2 NA NA NA ENSG00000149295 ENSE00003475700 synonymous_variant 1.141894 0.24822 0.1803 0.554377 0.738544419991801 0 0.733263888671177 FALSE 0.000109635 ENSE00000989842_015 ENSE00000989842 015 11 113285061 113285230 - 36 87 47 G A 113285171 2496 60 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTAAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414448 113414449 113414449 exon 13 0.149425287356322 TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTTACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 36 51 0.85 0.85 0.85 30 185 0.8 0.801365192818802 0.800682596409401 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0.00661048228141392 0.0387479592835426 -0.156103585097939 -0.0469404632920799 0.827320779217522 0.902204620604411 0.0226792207824782 -0.101522024195009 0.124201244977488 FALSE FALSE 1 9.627 . missense_variant MODERATE DRD2 HGNC 3023 ENST00000542968 5/7 1 deleterious(0.04) possibly_damaging(0.689) NA TGA G,A 8.236e-06 11:113414449 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 missense_variant 4.815996 0.99583 0.99304 0.554377 0.981000559274127 0 0.733263888671177 FALSE 4.06055e-06 ENSE00000989842_016 ENSE00000989842 016 11 113285061 113285230 - 36 87 47 G A 113285199 2497 32 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAACACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 113414476 113414477 113414477 upstr_intron -16 -0.319148936170213 TCCATCCCCACCACTTTGTGTGACCCATGTGTTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant NA NA NA NA NA 99 121 1 0.999368471065781 0.999684235532891 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 NA NA 0.043896414902061 0.151062814954899 0.827320779217522 0.902204620604411 NA 0.09747961492848 NA FALSE NA 1 6.649 . intron_variant MODIFIER DRD2 HGNC 3023 ENST00000542968 4/6 1 NA AGC G,A 8.236e-06 11:113414477 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 intron_variant 2.96049 0.98782 0.93676 0.053691 0.852855738410589 0.9828 0.733263888671177 FALSE 4.06062e-06 ENSE00000989842_017 ENSE00000989842 017 11 113285061 113285230 - 36 87 47 C T 113285213 2498 18 AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTACCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCCTGTGGAGTGAGCCAGCACATGGGTCACATAAAGTGGTGGGGATGGA 113414338 113414508 113414490 113414491 113414491 upstr_intron -30 -0.617021276595745 TCCATCCCCACCACTTTATGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT mutant 126 201 0.85 0.85 0.85 21 736 0.998023669907359 0.954178485390275 0.976101077648817 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 0.00661048228141392 0.0387479592835424 0.0419200848094204 0.105872829279393 0.827320779217522 0.902204620604411 0.0226792207824781 0.0738964570444068 0.0512172362619287 FALSE FALSE 0 0.021 . intron_variant MODIFIER DRD2 HGNC 3023 ENST00000542968 4/6 rs199663559 1 NA T:0 T:0.0001 ACA C,T 1.647e-05 11:113414491 DRD2 HGNC Symbol protein_coding 66076 ENSG00000149295 ENSE00003475700 intron_variant 1.029331 0.25489 0.07017 0.053691 0.80595618191721 0.185548 0.733263888671177 FALSE 4.06114e-06 ENSE00000989842_BRK ENSE00000989842 BRK 11 113285061 113285230 - 36 87 47 A,G; T,T NA NA NA AAGACCTGGCTCTGGGTCCCTGGCCTGAGCACTTGGCACTCTCCGCCTGTTCACTGGGAAACTCCCATTAGACTTCATGATAACGGTGCAGAGTTTCATGTCCTCGGGGTGAGTACAGTTGCCAAGTGGAGTGAGCCAGCACATGGGTCACACAAAGTGGTGGGGATGGA 113414338 113414508 NA NA NA NA NA NA TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACTTGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGCCAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT TCCATCCCCACCACTTTGTGTGACCCATGTGCTGGCTCACTCCACAGGGCAACTGTACTCACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGTAAGTGCTCAGGCCAGGGACCCAGAGCCAGGTCTT control 28 31 0 0 0 NA NA NA NA NA 0.843389517718586 0.811252040716458 0.956103585097939 0.848305656110882 -0.843389517718586 -0.811252040716458 NA NA 0.827320779217522 0.902204620604411 -0.827320779217522 NA NA NA TRUE NA NA NA NA NA DRD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DRD2 NA NA NA ENSG00000149295 ENSE00003475700 NA NA NA NA NA NA NA 0.733263888671177 FALSE NA ENSE00000990062_000 ENSE00000990062 000 11 134226151 134226320 + 44 93 33 NA NA NA NA NA TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 NA NA NA NA NA NA TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC natural 168 210 0.997745100054239 0.991414320488332 0.994579710271285 3066 4853 0.963679288622827 0.916522327909251 0.940100808266039 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 0 0 0 0 0.994579710271285 0.940100808266039 0 0 0 FALSE FALSE NA NA NA NA NA GLB1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLB1L2 NA NA NA ENSG00000149328 ENSE00003651394 NA NA NA NA NA NA NA 1.44692099840466e-16 FALSE NA ENSE00000990062_001 ENSE00000990062 001 11 134226151 134226320 + 44 93 33 C T 134226162 3200 12 TCCCCTGCACATTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356267 134356268 134356268 upstr_intron -33 -0.727272727272727 TCCCCTGCACATTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 373 1053 1 0.987928629978942 0.993964314989471 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0714063020696907 0.994579710271285 0.940100808266039 NA 0.0538635067234317 NA FALSE NA 0 -0.106 . intron_variant MODIFIER GLB1L2 HGNC 25129 ENST00000525089 4/17 1 NA ACT C,T 8.236e-06 11:134356268 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 intron_variant 0.328507 0.21694 0.02028 0.053691 0.790979161768991 0.0443366 1.44692099840466e-16 FALSE 8.14319e-06 ENSE00000990062_002 ENSE00000990062 002 11 134226151 134226320 + 44 93 33 T C 134226185 3201 35 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTCTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356290 134356291 134356291 upstr_intron -10 -0.204545454545455 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTCTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 345 159 1 0.999004025294062 0.999502012647031 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0824816973848107 0.994579710271285 0.940100808266039 NA 0.0594012043809917 NA FALSE NA 0 -0.238 . intron_variant MODIFIER GLB1L2 HGNC 25129 ENST00000525089 4/17 1 NA TTT T,C 8.236e-06 11:134356291 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 intron_variant 1.180891 0.21407 0.04859 0.078448 0.687996185471975 0.128316 1.44692099840466e-16 FALSE 4.06299e-06 ENSE00000990062_004 ENSE00000990062 004 11 134226151 134226320 + 44 93 33 G A 134226191 3203 41 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCACAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356296 134356297 134356297 upstr_intron -4 -0.0681818181818182 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCACAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 600 65 1 0.997559041080199 0.998779520540099 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0810367131709472 0.994579710271285 0.940100808266039 NA 0.0586787122740599 NA FALSE NA 0.008 -0.691 . splice_region_variant&intron_variant LOW GLB1L2 HGNC 25129 ENST00000525089 4/17 rs368050860 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0001 CGC G,A 3.295e-05 11:134356297 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 splice_region_variant 1.113372 0.21551 0.03168 0.162113 0.853659593465846 0.1416 1.44692099840466e-16 FALSE 3.65681e-05 ENSE00000990062_005 ENSE00000990062 005 11 134226151 134226320 + 44 93 33 A G 134226193 3204 43 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCGGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356298 134356299 134356299 upstr_intron -2 -0.0227272727272727 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCGGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 214 337 0 0.00300804322376786 0.00150402161188393 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA -0.963679288622827 -0.913514284685483 0.994579710271285 0.940100808266039 NA -0.938596786654155 NA TRUE NA 1 6.964 . splice_acceptor_variant HIGH GLB1L2 HGNC 25129 ENST00000525089 4/17 1 NA HC CAG A,G 8.236e-06 11:134356299 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 splice_acceptor_variant 4.97635 0.94672 0.95183 0.162113 0.993554716856736 0.956416 1.44692099840466e-16 FALSE 4.06184e-06 ENSE00000990062_006 ENSE00000990062 006 11 134226151 134226320 + 44 93 33 A G 134226196 3205 46 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTGCAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356301 134356302 134356302 exon 2 0.021505376344086 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTGCAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 822 266 0.999899827313786 1 0.999949913656893 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0362205386909585 0.0834776720907486 0.994579710271285 0.940100808266039 NA 0.0598491053908536 NA FALSE NA 1 2.936 . missense_variant&splice_region_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 1 deleterious(0) probably_damaging(0.994) NA TAC A,G 1.647e-05 11:134356302 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 6.02323 0.94789 0.89684 0.615465 0.998097441800161 0 1.44692099840466e-16 FALSE 8.12222e-06 ENSE00000990062_007 ENSE00000990062 007 11 134226151 134226320 + 44 93 33 C T 134226201 3206 51 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGTGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356306 134356307 134356307 exon 7 0.0752688172043011 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGTGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant 31 10 0.982498513454547 1 0.991249256727273 597 336 0.884014590531489 1 0.942007295265744 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 -0.0152465865996919 0.008585679511668 -0.0796646980913388 0.0834776720907486 0.994579710271285 0.940100808266039 -0.00333045354401196 0.00190648699970491 0.00523694054371687 FALSE FALSE 0.834 0.715 rs187537624 missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 rs187537624 1 deleterious(0.02) possibly_damaging(0.663) T:0.0032 T:0 T:0.0231 NA T:0 T:0 T:0 T:0.0002 T:0 GCG C,T 0.003122 11:134356307 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 6.778893 0.38418 0.15151 0.615465 0.998831157349597 0 1.44692099840466e-16 FALSE 0.00447531 ENSE00000990062_008 ENSE00000990062 008 11 134226151 134226320 + 44 93 33 G A 134226202 3207 52 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCATGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356307 134356308 134356308 exon 8 0.0860215053763441 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCATGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 381 692 0.99847791115279 0.994649464105205 0.996563687628998 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0347986225299624 0.0781271361959541 0.994579710271285 0.940100808266039 NA 0.0564628793629582 NA FALSE NA 0.663 1.157 rs141505053 missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 rs141505053 1 tolerated(0.39) benign(0.003) A:0.0010 A:0.003 A:0 NA A:0.001 A:0 A:0 A:0.0011 A:0.0001 CGT G,A 0.0001647 11:134356308 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 2.291648 0.31034 0.01119 0.615465 0.96954420094916 0 1.44692099840466e-16 FALSE 0.000174614 ENSE00000990062_009 ENSE00000990062 009 11 134226151 134226320 + 44 93 33 T G 134226218 3208 68 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATGGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356323 134356324 134356324 exon 24 0.258064516129032 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATGGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 340 1682 1 0.997475485568543 0.998737742784271 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0809531576592916 0.994579710271285 0.940100808266039 NA 0.0586369345182321 NA FALSE NA 0.632 -1.099 . missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 rs376232854 1 deleterious(0.01) probably_damaging(0.928) NA G:0.0002 G:0 TTG C,G 8.236e-06 11:134356324 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 3.512766 0.74344 0.16118 0.615465 0.993275447389244 0 1.44692099840466e-16 FALSE 8.12143e-06 ENSE00000990062_011 ENSE00000990062 011 11 134226151 134226320 + 44 93 33 G A 134226222 3210 72 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCATGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356327 134356328 134356328 exon 28 0.301075268817204 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCATGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 569 302 0.999388361182947 1 0.999694180591474 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0357090725601199 0.0834776720907486 0.994579710271285 0.940100808266039 NA 0.0595933723254343 NA FALSE NA 1 4.379 . missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 1 tolerated(0.14) possibly_damaging(0.876) NA CGT G,A 5.765e-05 11:134356328 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 4.298346 0.89993 0.78332 0.615465 0.998247600227705 0 1.44692099840466e-16 FALSE 2.84248e-05 ENSE00000990062_012 ENSE00000990062 012 11 134226151 134226320 + 44 93 33 G T 134226228 3211 78 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGTTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356333 134356334 134356334 exon 34 0.365591397849462 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGTTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 19 50 1 1 1 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0834776720907486 0.994579710271285 0.940100808266039 NA 0.0598991917339606 NA FALSE NA 1 7.379 NA NA NA GLB1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:134356334 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 6.21534 0.95471 0.92062 0.615465 0.997778381088298 0 1.44692099840466e-16 FALSE 4.06081e-06 ENSE00000990062_014 ENSE00000990062 014 11 134226151 134226320 + 44 93 33 A C 134226232 3213 82 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGCGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356337 134356338 134356338 exon 38 0.408602150537634 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGCGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant 154 162 0.981638015703193 0.972319641869298 0.976978828786246 19 17 1 1 1 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 -0.0161070843510455 -0.0190946786190337 0.0363207113771726 0.0834776720907486 0.994579710271285 0.940100808266039 -0.0176008814850396 0.0598991917339606 0.0775000732190002 FALSE FALSE 1 6.985 . missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 1 deleterious(0) probably_damaging(1) NA GAG A,C 8.236e-06 11:134356338 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 6.241272 0.94836 0.91613 0.615465 0.997049241991983 0 1.44692099840466e-16 FALSE 8.1217e-06 ENSE00000990062_015 ENSE00000990062 015 11 134226151 134226320 + 44 93 33 G C 134226237 3214 87 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATCAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356342 134356343 134356343 exon 43 0.462365591397849 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATCAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 543 274 0.998694412871971 0.934138006564253 0.966416209718112 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0350151242491441 0.0176156786550017 0.994579710271285 0.940100808266039 NA 0.0263154014520729 NA FALSE NA 1 7.379 NA NA NA GLB1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:134356343 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 6.106511 0.98622 0.97389 0.615465 0.998541250651478 0 1.44692099840466e-16 FALSE 4.06085e-06 ENSE00000990062_021 ENSE00000990062 021 11 134226151 134226320 + 44 93 33 A G 134226259 3220 109 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGGCCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356364 134356365 134356365 exon -29 0.698924731182796 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGGCCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 75 12 1 1 1 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0834776720907486 0.994579710271285 0.940100808266039 NA 0.0598991917339606 NA FALSE NA 1 6.985 . missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 1 deleterious(0) probably_damaging(1) NA GAC A,G 8.236e-06 11:134356365 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 5.920617 0.98303 0.96767 0.615465 0.997746592334735 0 1.44692099840466e-16 FALSE 4.06134e-06 ENSE00000990062_022 ENSE00000990062 022 11 134226151 134226320 + 44 93 33 C T 134226263 3221 113 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCTGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356368 134356369 134356369 exon -25 0.741935483870968 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCTGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant 26 14 0.993704371212157 1 0.996852185606079 221 247 0.990860325310998 1 0.995430162655499 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 -0.00404072884208151 0.008585679511668 0.0271810366881703 0.0834776720907486 0.994579710271285 0.940100808266039 0.00227247533479324 0.0553293543894595 0.0530568790546662 FALSE FALSE 0 -4.287 . synonymous_variant LOW GLB1L2 HGNC 25129 ENST00000525089 5/18 rs536838066 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 CCG C,T 5.765e-05 11:134356369 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 synonymous_variant 1.347451 0.10601 0.00605 0.615465 0.59677891269793 0 1.44692099840466e-16 FALSE 9.7473e-05 ENSE00000990062_023 ENSE00000990062 023 11 134226151 134226320 + 44 93 33 G A 134226264 3222 114 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCACATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356369 134356370 134356370 exon -24 0.752688172043011 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCACATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 248 703 0.999833941001497 0.999891657102043 0.99986279905177 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0361546523786699 0.0833693291927921 0.994579710271285 0.940100808266039 NA 0.059761990785731 NA FALSE NA 0.007 0.328 rs77130779 missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 rs77130779 1 tolerated(0.57) benign(0.005) A:0.0010 A:0 A:0 NA A:0.003 A:0 A:0.002 CGC G,A 0.0005518 11:134356370 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 0.657407 0.20596 0.04504 0.615465 0.778460806394836 0 1.44692099840466e-16 FALSE 0.000503639 ENSE00000990062_024 ENSE00000990062 024 11 134226151 134226320 + 44 93 33 G T 134226272 3223 122 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATTCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356377 134356378 134356378 exon -16 0.838709677419355 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATTCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 100 538 1 1 1 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0834776720907486 0.994579710271285 0.940100808266039 NA 0.0598991917339606 NA FALSE NA 1 5.627 . missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 1 deleterious(0) possibly_damaging(0.827) NA TGC G,T 8.236e-06 11:134356378 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 3.584405 0.98605 0.95262 0.615465 0.991376697972953 0 1.44692099840466e-16 FALSE 1.21852e-05 ENSE00000990062_025 ENSE00000990062 025 11 134226151 134226320 + 44 93 33 C T 134226273 3224 123 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGTCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356378 134356379 134356379 exon -15 0.849462365591398 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGTCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 440 202 1 0.999216259554951 0.999608129777475 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0826939316456993 0.994579710271285 0.940100808266039 NA 0.059507321511436 NA FALSE NA 1 1.158 . missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 1 tolerated(0.31) benign(0.086) NA GCC C,T 8.236e-06 11:134356379 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 1.017767 0.96369 0.69583 0.615465 0.770477430736588 0 1.44692099840466e-16 FALSE 1.21844e-05 ENSE00000990062_026 ENSE00000990062 026 11 134226151 134226320 + 44 93 33 C T 134226275 3225 125 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCTTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356380 134356381 134356381 exon -13 0.870967741935484 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCTTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 1583 801 0.997813488632002 0.999407207432346 0.998610348032174 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0341342000091742 0.0828848795230948 0.994579710271285 0.940100808266039 NA 0.0585095397661345 NA FALSE NA 0.994 -0.181 . synonymous_variant LOW GLB1L2 HGNC 25129 ENST00000525089 5/18 rs570291242 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCT C,T 8.236e-06 11:134356381 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 synonymous_variant 0.759744 0.91264 0.19884 0.615465 0.573552062714546 0 1.44692099840466e-16 FALSE 4.0618e-06 ENSE00000990062_028 ENSE00000990062 028 11 134226151 134226320 + 44 93 33 C T 134226278 3227 128 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTATGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356383 134356384 134356384 exon -10 0.903225806451613 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTATGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 804 387 0.99905292674329 0.996276473276305 0.997664700009797 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0353736381204625 0.0797541453670536 0.994579710271285 0.940100808266039 NA 0.057563891743758 NA FALSE NA 0 -1.438 rs3802928 synonymous_variant LOW GLB1L2 HGNC 25129 ENST00000525089 5/18 rs3802928&COSM147385 1 T:0.1266 T:0.2027 T:0.0677 NA T:0.1944 T:0.0596 T:0.0644 T:0.1892 T:0.0483 ACG C,T 0.076 11:134356384 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 synonymous_variant 0.472892 0.1781 0.01566 0.615465 0.228685788814169 0 1.44692099840466e-16 FALSE 0.0728185 ENSE00000990062_029 ENSE00000990062 029 11 134226151 134226320 + 44 93 33 G A 134226279 3228 129 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACATCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356384 134356385 134356385 exon -9 0.913978494623656 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACATCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 1384 90 1 0.998238665291283 0.999119332645642 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0817163373820319 0.994579710271285 0.940100808266039 NA 0.0590185243796023 NA FALSE NA 0 -0.824 . missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 1 tolerated(1) benign(0.005) NA CGT G,A 8.236e-06 11:134356385 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant -2.299712 0.12512 0.00819 0.615465 0.366315745618792 0 1.44692099840466e-16 FALSE 2.43746e-05 ENSE00000990062_030 ENSE00000990062 030 11 134226151 134226320 + 44 93 33 T C 134226280 3229 130 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGCCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356385 134356386 134356386 exon -8 0.924731182795699 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGCCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 61 68 0.992334339172209 0.993578999675581 0.992956669423895 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0286550505493819 0.0770566717663301 0.994579710271285 0.940100808266039 NA 0.052855861157856 NA FALSE NA 1 6.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:134356386 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 2.983914 0.98073 0.94581 0.615465 0.991359687182083 0 1.44692099840466e-16 FALSE 4.06213e-06 ENSE00000990062_031 ENSE00000990062 031 11 134226151 134226320 + 44 93 33 T A 134226280 3230 130 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGACAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356385 134356386 134356386 exon -8 0.924731182795699 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGACAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 474 12 0.999826227863491 1 0.999913113931745 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0361469392406631 0.0834776720907486 0.994579710271285 0.940100808266039 NA 0.0598123056657059 NA FALSE NA 1 6.015 NA NA NA GLB1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLB1L2 NA NA NA ENSG00000149328 ENSE00003651394 missense_variant 5.532261 0.98113 0.95229 0.615465 0.984768353974172 0 1.44692099840466e-16 FALSE 4.06213e-06 ENSE00000990062_032 ENSE00000990062 032 11 134226151 134226320 + 44 93 33 C T 134226281 3231 131 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTTAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356386 134356387 134356387 exon -7 0.935483870967742 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTTAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 519 36 0.983294431458023 0.966611177220997 0.97495280433951 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0196151428351961 0.050088849311746 0.994579710271285 0.940100808266039 NA 0.034851996073471 NA FALSE NA 1 0.079 . synonymous_variant LOW GLB1L2 HGNC 25129 ENST00000525089 5/18 1 NA TCA C,T 8.236e-06 11:134356387 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 synonymous_variant 1.081232 0.97629 0.63831 0.615465 0.582297557510361 0 1.44692099840466e-16 FALSE 8.12453e-06 ENSE00000990062_033 ENSE00000990062 033 11 134226151 134226320 + 44 93 33 G T 134226284 3232 134 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAATAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356389 134356390 134356390 exon -4 0.967741935483871 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAATAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 976 750 0.997464313688019 0.999286427503602 0.998375370595811 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0337850250651919 0.0827640995943508 0.994579710271285 0.940100808266039 NA 0.0582745623297714 NA FALSE NA 1 3.006 . missense_variant MODERATE GLB1L2 HGNC 25129 ENST00000525089 5/18 1 deleterious(0) possibly_damaging(0.84) NA AGA G,T 8.236e-06 11:134356390 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 missense_variant 5.345134 0.97195 0.93463 0.615465 0.998246038619419 0 1.44692099840466e-16 FALSE 4.06289e-06 ENSE00000990062_034 ENSE00000990062 034 11 134226151 134226320 + 44 93 33 A G 134226291 3233 141 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAGGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 134356396 134356397 134356397 downstr_intron 4 1.125 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAGGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 283 76 1 1 1 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0363207113771726 0.0834776720907486 0.994579710271285 0.940100808266039 NA 0.0598991917339606 NA FALSE NA 1 2.177 rs3802929 splice_region_variant&intron_variant LOW GLB1L2 HGNC 25129 ENST00000525089 5/17 rs3802929 1 G:0.1178 G:0.0408 G:0.0346 NA G:0.3105 G:0.0089 G:0.1943 G:0.03 G:0.0051 AAG A,G 0.058 11:134356397 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 splice_region_variant 0.36419 0.92603 0.52633 0.053691 0.610978193679703 0.15299 1.44692099840466e-16 FALSE 0.0568262 ENSE00000990062_035 ENSE00000990062 035 11 134226151 134226320 + 44 93 33 C T 134226306 3234 156 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGTGTTTCTTTAGATTC 134356256 134356426 134356411 134356412 134356412 downstr_intron 19 1.59375 TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGTGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC mutant NA NA NA NA NA 797 447 0.999807675699714 1 0.999903837849857 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 NA NA 0.0361283870768865 0.0834776720907486 0.994579710271285 0.940100808266039 NA 0.0598030295838176 NA FALSE NA 0 -1.134 . intron_variant MODIFIER GLB1L2 HGNC 25129 ENST00000525089 5/17 1 NA GCG C,T 8.236e-06 11:134356412 GLB1L2 HGNC Symbol protein_coding 46467 ENSG00000149328 ENSE00003651394 intron_variant -0.17532 0.13114 0.00656 0.053691 0.440781064582417 0.0455939 1.44692099840466e-16 FALSE 1.22188e-05 ENSE00000990062_BRK ENSE00000990062 BRK 11 134226151 134226320 + 44 93 33 A,G; T,T NA NA NA TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCTTTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGCCAAGAATCCTCTTAGTGCGTTTCTTTAGATTC 134356256 134356426 NA NA NA NA NA NA TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCTTTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGCCAAGAATCCTCTTAGTGCGTTTCTTTAGATTC TCCCCTGCACACTCAGCTCCTGGTTTTCTGTCTTTTCTCCGCAGTACAAGCGTGGGGGACCTATCATTGCCGTGCAGGTGGAGAATGAATATGGTTCCTATAATAAAGACCCCGCATACATGCCCTACGTCAAGAAGGTAAGAATCCTCTTAGTGCGTTTCTTTAGATTC control 40 62 0 0 0 NA NA NA NA NA 0.997745100054239 0.991414320488332 0.963679288622827 0.916522327909251 -0.997745100054239 -0.991414320488332 NA NA 0.994579710271285 0.940100808266039 -0.994579710271285 NA NA NA TRUE NA NA NA NA NA GLB1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLB1L2 NA NA NA ENSG00000149328 ENSE00003651394 NA NA NA NA NA NA NA 1.44692099840466e-16 FALSE NA ENSE00000990368_000 ENSE00000990368 000 11 120343708 120343877 + 51 78 41 NA NA NA NA NA TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 NA NA NA NA NA NA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA natural NA NA NA NA NA 9280 8319 0.943166329965152 0.96492028986825 0.954043309916701 NA NA 0.943166329965152 0.96492028986825 NA NA 0 0 NA 0.954043309916701 NA 0 NA FALSE NA NA NA NA NA NA ARHGEF12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF12 NA NA NA ENSG00000196914 ENSE00003464116 NA NA NA NA NA NA NA 0.99999892582633 TRUE NA ENSE00000990368_001 ENSE00000990368 001 11 120343708 120343877 + 51 78 41 C T 120343719 2886 12 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGATCATTAATGAC 120472998 120473168 120473009 120473010 120473010 upstr_intron -40 -0.764705882352941 GTCATTAATGATCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant 23 29 1 1 1 NA NA NA NA NA NA NA 0.943166329965152 0.96492028986825 NA NA NA NA NA 0.954043309916701 NA NA NA NA NA 0 -0.179 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 30/40 rs557330089 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACC C,T 2.482e-05 11:120473010 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 intron_variant 0.693248 0.13391 0.04334 0.163922 0.826412994173509 0.046875 0.99999892582633 TRUE 2.03777e-05 ENSE00000990368_002 ENSE00000990368 002 11 120343708 120343877 + 51 78 41 C G 120343720 2887 13 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTCGTCATTAATGAC 120472998 120473168 120473010 120473011 120473011 upstr_intron -39 -0.745098039215686 GTCATTAATGACGAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 95 1404 1 0.880613722388902 0.940306861194451 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0568336700348478 -0.0843065674793481 NA 0.954043309916701 NA -0.0137364487222501 NA FALSE NA 0.003 -0.007 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 30/40 rs368321256 1 NA G:0 G:0.0002 CCA C,G 0.0003972 11:120473011 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 intron_variant 0.838898 0.23105 0.20455 0.163922 0.583650446860329 0.0542882 0.99999892582633 TRUE 0.000309744 ENSE00000990368_003 ENSE00000990368 003 11 120343708 120343877 + 51 78 41 A G 120343722 2888 15 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTCTGGTCATTAATGAC 120472998 120473168 120473012 120473013 120473013 upstr_intron -37 -0.705882352941177 GTCATTAATGACCAGAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 345 4303 0.969000257463196 0.998390865092788 0.983695561277992 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0258339274980434 0.0334705752245387 NA 0.954043309916701 NA 0.029652251361291 NA FALSE NA 0.109 -0.268 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 30/40 rs575773779 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAA A,G 9.93e-05 11:120473013 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 intron_variant 0.96962 0.20802 0.05576 0.163922 0.62264488423365 0.0542882 0.99999892582633 TRUE 8.14777e-05 ENSE00000990368_004 ENSE00000990368 004 11 120343708 120343877 + 51 78 41 G T 120343724 2889 17 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGATTTGGTCATTAATGAC 120472998 120473168 120473014 120473015 120473015 upstr_intron -35 -0.666666666666667 GTCATTAATGACCAAATCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant 13 13 1 0.999579885533611 0.999789942766806 424 3433 0.995144804490667 0.999127520485762 0.997136162488215 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0519784745255152 0.0342072306175122 NA 0.954043309916701 NA 0.0430928525715137 NA FALSE NA 0.737 2.891 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 30/40 1 NA AGC G,T 8.275e-06 11:120473015 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 intron_variant 0.937026 0.33893 0.37234 0.163922 0.721023579843627 0.075395 0.99999892582633 TRUE NA ENSE00000990368_005 ENSE00000990368 005 11 120343708 120343877 + 51 78 41 C G 120343732 2890 25 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAACGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473022 120473023 120473023 upstr_intron -27 -0.509803921568627 GTCATTAATGACCAAAGCACTAACGTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant 22 74 0.947379788586911 0.944350768070403 0.945865278328657 434 988 0.974541023432792 0.960831476563436 0.967686249998114 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0313746934676397 -0.0040888133048137 NA 0.954043309916701 NA 0.013642940081413 NA FALSE NA 0.037 0.412 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 30/40 rs370855134 1 NA G:0.0003 G:0 CCT C,G 8.275e-06 11:120473023 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 intron_variant 0.797012 0.67955 0.24667 0.163922 0.561399481475045 0.186649 0.99999892582633 TRUE 4.06772e-06 ENSE00000990368_006 ENSE00000990368 006 11 120343708 120343877 + 51 78 41 C T 120343740 2891 33 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTAGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473030 120473031 120473031 upstr_intron -19 -0.352941176470588 GTCATTAATGACCAAAGCACTAACCTTGGTTCTACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 595 478 0.985949117397702 0.999920343773364 0.992934730585533 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0427827874325502 0.0350000539051141 NA 0.954043309916701 NA 0.0388914206688321 NA FALSE NA 0 -1.284 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 30/40 rs536733909 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCA C,T 1.655e-05 11:120473031 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 intron_variant -0.207679 0.10659 0.01028 0.163922 0.495328822142715 0.0822395 0.99999892582633 TRUE 1.21959e-05 ENSE00000990368_007 ENSE00000990368 007 11 120343708 120343877 + 51 78 41 C T 120343748 2892 41 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAAGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473038 120473039 120473039 upstr_intron -11 -0.196078431372549 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCTTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 1226 277 0.860128400668092 0.993839895891917 0.926984148280005 NA NA 0.943166329965152 0.96492028986825 NA NA -0.0830379292970601 0.0289196060236673 NA 0.954043309916701 NA -0.0270591616366964 NA FALSE NA 0.329 0.913 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 30/40 rs374522117 1 NA T:0.0003 T:0 CCT C,T 8.275e-06 11:120473039 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 intron_variant 0.49222 0.35955 0.39589 0.163922 0.58234547819809 0.190778 0.99999892582633 TRUE 4.06408e-06 ENSE00000990368_008 ENSE00000990368 008 11 120343708 120343877 + 51 78 41 C T 120343756 2893 49 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTAAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473046 120473047 120473047 upstr_intron -3 -0.0392156862745098 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTTAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 215 3889 0.770889688232839 0.788268793579224 0.779579240906031 NA NA 0.943166329965152 0.96492028986825 NA NA -0.172276641732313 -0.176651496289026 NA 0.954043309916701 NA -0.174464069010669 NA FALSE NA 1 2.762 . splice_region_variant&intron_variant LOW ARHGEF12 HGNC 14193 ENST00000532993 30/40 1 NA TCA C,T 8.275e-06 11:120473047 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 splice_region_variant 1.717819 0.97227 0.95037 0.163922 0.879683809056149 0.351456 0.99999892582633 TRUE 4.06375e-06 ENSE00000990368_009 ENSE00000990368 009 11 120343708 120343877 + 51 78 41 G A 120343760 2894 53 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGTGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473050 120473051 120473051 exon 2 0.0256410256410256 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCACCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 1241 316 0.997010707265357 0.997774950298356 0.997392828781857 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0538443773002044 0.0328546604301068 NA 0.954043309916701 NA 0.0433495188651556 NA FALSE NA 0.961 1.493 . missense_variant&splice_region_variant MODERATE ARHGEF12 HGNC 14193 ENST00000532993 31/41 1 tolerated(0.2) benign(0.016) NA CGC G,A 3.31e-05 11:120473051 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 missense_variant 3.124134 0.95747 0.78678 0.732398 0.994244033281094 0 0.99999892582633 TRUE 2.84456e-05 ENSE00000990368_010 ENSE00000990368 010 11 120343708 120343877 + 51 78 41 C T 120343777 2895 70 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACACTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473067 120473068 120473068 exon 19 0.243589743589744 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGTGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 311 973 0.848311474245986 0.861375754784205 0.854843614515095 NA NA 0.943166329965152 0.96492028986825 NA NA -0.0948548557191664 -0.103544535084045 NA 0.954043309916701 NA -0.0991996954016057 NA FALSE NA 1 5.331 . missense_variant MODERATE ARHGEF12 HGNC 14193 ENST00000532993 31/41 1 deleterious(0) possibly_damaging(0.503) NA GCG C,T 8.275e-06 11:120473068 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 missense_variant 7.818789 0.98963 0.98588 0.732398 0.999308814130886 0 0.99999892582633 TRUE NA ENSE00000990368_011 ENSE00000990368 011 11 120343708 120343877 + 51 78 41 G A 120343778 2896 71 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGATGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473068 120473069 120473069 exon 20 0.256410256410256 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCATCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant 25 17 0.85 0.85 0.85 639 717 0.978852265505964 0.850294593555034 0.914573429530499 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0356859355408118 -0.114625696313216 NA 0.954043309916701 NA -0.0394698803862022 NA FALSE NA 1 6.983 . missense_variant MODERATE ARHGEF12 HGNC 14193 ENST00000532993 31/41 1 deleterious(0) benign(0.365) NA CGT G,A 1.655e-05 11:120473069 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 missense_variant 6.000153 0.99036 0.98602 0.732398 0.999414607108423 0 0.99999892582633 TRUE 1.6255e-05 ENSE00000990368_012 ENSE00000990368 012 11 120343708 120343877 + 51 78 41 G A 120343781 2897 74 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGTGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473071 120473072 120473072 exon 23 0.294871794871795 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCACCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant 22 130 0.85 0.85 0.85 1173 215 0.929754769035675 0.914020550898221 0.921887659966948 NA NA 0.943166329965152 0.96492028986825 NA NA -0.0134115609294768 -0.0508997389700283 NA 0.954043309916701 NA -0.0321556499497526 NA FALSE NA 1 8.878 rs34726241 missense_variant MODERATE ARHGEF12 HGNC 14193 ENST00000532993 31/41 rs34726241&COSM1676511 1 deleterious(0) probably_damaging(0.996) NA CGC G,A 2.483e-05 11:120473072 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 missense_variant 7.649022 0.99453 0.99711 0.732398 0.999458190729668 0 0.99999892582633 TRUE 2.03184e-05 ENSE00000990368_013 ENSE00000990368 013 11 120343708 120343877 + 51 78 41 G A 120343796 2898 89 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGTTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473086 120473087 120473087 exon 38 0.487179487179487 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAACCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 518 169 0.789774452130772 0.979515074685676 0.884644763408224 NA NA 0.943166329965152 0.96492028986825 NA NA -0.15339187783438 0.0145947848174262 NA 0.954043309916701 NA -0.0693985465084771 NA FALSE NA 0.988 1.308 . missense_variant MODERATE ARHGEF12 HGNC 14193 ENST00000532993 31/41 1 tolerated(0.91) benign(0) NA AGC G,A 8.275e-06 11:120473087 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 missense_variant 1.05884 0.91432 0.21836 0.732398 0.298458261267583 0 0.99999892582633 TRUE 4.06405e-06 ENSE00000990368_014 ENSE00000990368 014 11 120343708 120343877 + 51 78 41 A C 120343809 2899 102 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCGGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473099 120473100 120473100 exon -28 0.653846153846154 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCCGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 1432 772 0.997132792103536 0.999455890143986 0.998294341123761 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0539664621383839 0.0345356002757363 NA 0.954043309916701 NA 0.0442510312070601 NA FALSE NA 0.004 -1.209 . synonymous_variant LOW ARHGEF12 HGNC 14193 ENST00000532993 31/41 1 NA CAG A,C 4.138e-05 11:120473100 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 synonymous_variant 0.300312 0.57528 0.07045 0.732398 0.696498887728291 0 0.99999892582633 TRUE 3.25142e-05 ENSE00000990368_015 ENSE00000990368 015 11 120343708 120343877 + 51 78 41 C T 120343815 2900 108 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGATACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473105 120473106 120473106 exon -22 0.730769230769231 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTATCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 571 585 0.998403527353595 1 0.999201763676798 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0552371973884432 0.0350797101317503 NA 0.954043309916701 NA 0.0451584537600968 NA FALSE NA 0.999 0.585 . synonymous_variant LOW ARHGEF12 HGNC 14193 ENST00000532993 31/41 rs368476949 1 NA T:0 T:0.0001 ACC C,T 8.276e-06 11:120473106 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 synonymous_variant 1.405823 0.96467 0.73625 0.732398 0.461274114355985 0 0.99999892582633 TRUE 4.06531e-06 ENSE00000990368_016 ENSE00000990368 016 11 120343708 120343877 + 51 78 41 G A 120343839 2901 132 TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTTACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473129 120473130 120473130 downstr_intron 3 1.075 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTAAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 2713 362 0.990263170215834 0.99216554809891 0.991214359157372 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0470968402506823 0.0272452582306607 NA 0.954043309916701 NA 0.0371710492406715 NA FALSE NA 0.991 0.285 . splice_region_variant&intron_variant LOW ARHGEF12 HGNC 14193 ENST00000532993 31/40 rs555569791 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGA G,A 1.656e-05 11:120473130 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 splice_region_variant 1.867187 0.96365 0.78729 0.088506 0.765617809896756 0.351714 0.99999892582633 TRUE 8.15235e-06 ENSE00000990368_017 ENSE00000990368 017 11 120343708 120343877 + 51 78 41 A T 120343855 2902 148 TTTTATTTTATTTTTTAAATTAAGATTAGACCATCTCTCACCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGCTGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 120473145 120473146 120473146 downstr_intron 19 1.475 GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCTTAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA mutant NA NA NA NA NA 263 130 0.999416829459827 0.998781488135475 0.999099158797651 NA NA 0.943166329965152 0.96492028986825 NA NA 0.0562504994946751 0.0338611982672248 NA 0.954043309916701 NA 0.0450558488809499 NA FALSE NA 0.065 0.564 rs187125182 intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 31/40 rs187125182 1 T:0.0010 T:0 T:0.0029 NA T:0 T:0.002 T:0.001 T:0.0008 T:0.0044 CAT A,T 0.002559 11:120473146 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003464116 intron_variant 1.404622 0.92685 0.31193 0.088506 0.781123787415811 0.795411 0.99999892582633 TRUE 0.00275192 ENSE00000990368_BRK ENSE00000990368 BRK 11 120343708 120343877 + 51 78 41 A,G; T,T NA NA NA TTTTATTTTATTTTTTAAATTATGATTAGACCATCTCTCGGCCTGAGCTCTTCAACATTTGGGTACTCTGACAACTTCAGGCTGGAGGTATCAAGGCGACGCTGATAATCTTCTAGGCGAAGAAAATTAGGCAGGGTGGAACCAAGGTTAGTGCTTTGGTCATTAATGAC 120472998 120473168 NA NA NA NA NA NA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCTTCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGCCGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA GTCATTAATGACCAAAGCACTAACCTTGGTTCCACCCTGCCTAATTTTCAGCGCCTAGAAGATTATCAGCGTCGCCTTGATACCTCCAGCCTGAAGTTGTCAGAGTACCCAAATGTTGAAGAGCTCAGGGTGAGAGATGGTCTAATCATAATTTAAAAAATAAAATAAAA control 102 128 0 0.0308176173479434 0.0154088086739717 6082 1191 0.0141892606710489 0.0774765764254526 0.0458329185482508 NA NA 0.943166329965152 0.96492028986825 NA NA -0.928977069294103 -0.887443713442797 NA 0.954043309916701 NA -0.90821039136845 NA TRUE NA NA NA NA NA NA ARHGEF12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF12 NA NA NA ENSG00000196914 ENSE00003464116 NA NA NA NA NA NA NA 0.99999892582633 TRUE NA ENSE00000990752_000 ENSE00000990752 000 11 58967112 58967281 + 45 90 35 NA NA NA NA NA AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 NA NA NA NA NA NA AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT natural 126 156 0.988021770638818 0.979043723731949 0.983532747185383 1466 3584 0.873622784938777 0.787250068704775 0.830436426821776 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 0 0 0 0 0.983532747185383 0.830436426821776 0 0 0 FALSE FALSE NA NA NA NA NA DTX4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DTX4 NA NA NA ENSG00000110042 ENSE00003627197 NA NA NA NA NA NA NA 0.594144205008104 FALSE NA ENSE00000990752_001 ENSE00000990752 001 11 58967112 58967281 + 45 90 35 G A 58967134 1292 23 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGTAAATGGCATTTTTCAAAATATT 59199638 59199808 59199660 59199661 59199661 upstr_intron -23 -0.488888888888889 AATATTTTGAAAAATGCCATTTACTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant NA NA NA NA NA 2701 2206 0.864140646574692 0.995157781708853 0.929649214141773 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 NA NA -0.00948213836408474 0.207907713004079 0.983532747185383 0.830436426821776 NA 0.0992127873199971 NA FALSE NA 0 0.226 . intron_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 1/2 rs370042972 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 2.556e-05 11:59199661 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 intron_variant 0.241 0.25967 0.06202 0.279481 0.829158850988363 0.121909 0.594144205008104 FALSE 4.8752e-05 ENSE00000990752_002 ENSE00000990752 002 11 58967112 58967281 + 45 90 35 C T 58967161 1293 50 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCCAGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199687 59199688 59199688 exon 5 0.0555555555555556 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACTGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant NA NA NA NA NA 1422 1593 0.994176661828257 0.835668471556261 0.914922566692259 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 NA NA 0.120553876889481 0.0484184028514861 0.983532747185383 0.830436426821776 NA 0.0844861398704835 NA FALSE NA 0.985 4.674 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/3 rs369164250 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0.0003 T:0 CCG C,T 5.022e-05 11:59199688 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 missense_variant 7.181043 0.95548 0.95749 0.730579 0.999081426453558 0 0.594144205008104 FALSE 7.01398e-05 ENSE00000990752_003 ENSE00000990752 003 11 58967112 58967281 + 45 90 35 G A 58967162 1294 51 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCTGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199688 59199689 59199689 exon 6 0.0666666666666667 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCAGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant NA NA NA NA NA 833 254 0.999950585842649 0.996006799941615 0.997978692892132 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 NA NA 0.126327800903872 0.208756731236841 0.983532747185383 0.830436426821776 NA 0.167542266070356 NA FALSE NA 0.004 -0.504 rs182384440 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/3 rs182384440 1 A:0.0006 A:0 A:0.0029 NA A:0 A:0.001 A:0 A:0.0008 A:0.0029 CGG G,A 0.002176 11:59199689 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 synonymous_variant 1.463808 0.84107 0.06123 0.730579 0.930441748451099 0 0.594144205008104 FALSE 0.00273242 ENSE00000990752_004 ENSE00000990752 004 11 58967112 58967281 + 45 90 35 A C 58967172 1295 61 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATGCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199698 59199699 59199699 exon 16 0.177777777777778 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGCATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant NA NA NA NA NA 597 1883 0.827825855028357 0.999979786788446 0.913902820908402 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 NA NA -0.0457969299104192 0.212729718083671 0.983532747185383 0.830436426821776 NA 0.083466394086626 NA FALSE NA 1 9.232 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/3 1 NA GAA A,C 8.363e-06 11:59199699 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 missense_variant 4.342256 0.97485 0.9854 0.744818 0.994820726697507 0 0.594144205008104 FALSE 5.26244e-06 ENSE00000990752_005 ENSE00000990752 005 11 58967112 58967281 + 45 90 35 C T 58967192 1296 81 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCACTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199718 59199719 59199719 exon 36 0.4 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGTGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant NA NA NA NA NA 1610 690 0.991856812745541 0.99275950411958 0.992308158432561 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 NA NA 0.118234027806764 0.205509435414806 0.983532747185383 0.830436426821776 NA 0.161871731610785 NA FALSE NA 0 -5.718 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/3 1 NA GCG C,T 3.349e-05 11:59199719 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 synonymous_variant 1.889402 0.36709 0.06316 0.744818 0.877818312449532 0 0.594144205008104 FALSE NA ENSE00000990752_006 ENSE00000990752 006 11 58967112 58967281 + 45 90 35 G A 58967193 1297 82 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGTGCTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199719 59199720 59199720 exon 37 0.411111111111111 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCACCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant 23 36 0.9977817923937 0.996473794783912 0.997127793588806 2214 1622 0.997359310216818 1 0.998679655108409 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 0.00976002175488211 0.0174300710519634 0.123736525278041 0.212749931295225 0.983532747185383 0.830436426821776 0.0135950464034227 0.168243228286633 0.154648181883211 FALSE FALSE 1 9.754 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/3 COSM928987&COSM928986 1 NA CGC G,A 8.373e-06 11:59199720 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 missense_variant 6.883943 0.98147 0.98327 0.744818 0.999419086437003 0 0.594144205008104 FALSE NA ENSE00000990752_007 ENSE00000990752 007 11 58967112 58967281 + 45 90 35 G A 58967209 1298 98 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTTGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199735 59199736 59199736 exon -38 0.588888888888889 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACAACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant NA NA NA NA NA 1453 1765 0.999574378279156 0.998206831768143 0.998890605023649 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 NA NA 0.12595159334038 0.210956763063368 0.983532747185383 0.830436426821776 NA 0.168454178201874 NA FALSE NA 1 9.709 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/3 1 NA CGA G,A 8.409e-06 11:59199736 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 missense_variant 7.275826 0.98147 0.9896 0.730579 0.999463204121252 0 0.594144205008104 FALSE NA ENSE00000990752_008 ENSE00000990752 008 11 58967112 58967281 + 45 90 35 T C 58967214 1299 103 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACGGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199740 59199741 59199741 exon -33 0.644444444444444 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACCGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant NA NA NA NA NA 724 1091 0.998570226972691 0.985634937116213 0.992102582044452 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 NA NA 0.124947442033914 0.198384868411438 0.983532747185383 0.830436426821776 NA 0.161666155222676 NA FALSE NA 1 7.914 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/3 1 NA CTG T,C 8.425e-06 11:59199741 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 missense_variant 5.749439 0.9764 0.98459 0.730579 0.997100679535341 0 0.594144205008104 FALSE NA ENSE00000990752_009 ENSE00000990752 009 11 58967112 58967281 + 45 90 35 G A 58967225 1300 114 AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTACTTTTCTCCCTTTCTCGCTGTCTGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199751 59199752 59199752 exon -22 0.766666666666667 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCAGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant 20 40 0.974223246695023 0.95356304269948 0.963893144697252 1840 1370 0.996438384652615 0.930924275139304 0.963681329895959 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 -0.0137985239437944 -0.0254806810324687 0.122815599713838 0.143674206434529 0.983532747185383 0.830436426821776 -0.0196396024881316 0.133244903074184 0.152884505562315 FALSE FALSE 0 -3.281 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/3 rs200166889 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0008 A:0 CGG G,A 5.948e-05 11:59199752 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 synonymous_variant 1.561416 0.24144 0.03366 0.730579 0.917157307475416 0 0.594144205008104 FALSE 6.95636e-05 ENSE00000990752_011 ENSE00000990752 011 11 58967112 58967281 + 45 90 35 G A 58967255 1302 144 AAAACCTAGTTCTATGTGGAAACTTCTGGTCTTACTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCCTGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 59199781 59199782 59199782 downstr_intron 9 1.26470588235294 AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCAGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT mutant NA NA NA NA NA 1698 1300 0.87805780053246 0.998010713278747 0.938034256905603 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 NA NA 0.00443501559368364 0.210760644573972 0.983532747185383 0.830436426821776 NA 0.107597830083828 NA FALSE NA 0 -0.161 . intron_variant&non_coding_transcript_variant MODIFIER DTX4 HGNC 29151 ENST00000527475 2/2 1 NA CGG G,A 2.704e-05 11:59199782 DTX4 HGNC Symbol protein_coding 37157 ENSG00000110042 ENSE00003627197 intron_variant 0.417542 0.19378 0.01152 0.101703 0.902219891196648 0.0902236 0.594144205008104 FALSE 3.81713e-05 ENSE00000990752_BRK ENSE00000990752 BRK 11 58967112 58967281 + 45 90 35 A,G; T,T NA NA NA AAAACCTAGTTCTATGTGGAAACTTCCGGTCTTGGTTTTCTCCCTTTCTCGCTGTCCGGAAGGTAACAGTGTCGTGGGAAGCCTCGGGCGCTGAAACTCTTCCCAGGATTCGGGTGTTCCGGTCCAAGAAAGCAGAAAGCAAGCAAGCAAATGGCATTTTTCAAAATATT 59199638 59199808 NA NA NA NA NA NA AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCTTGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAACCAAGACCGGAAGTTTCCACATAGAACTAGGTTTT AATATTTTGAAAAATGCCATTTGCTTGCTTGCTTTCTGCTTTCAGGGACCGGAACACCCGAATCCTGGGAAGAGTTTCAGCGCCCGAGGCTTCCCACGACACTGTTACCTTCCGGACAGCGAGAAAGGGAGAAAAGTAAGACCGGAAGTTTCCACATAGAACTAGGTTTT control 100 162 0 0 0 318 685 0.00154051842082432 0.0544340246447803 0.0279872715328023 0.988021770638818 0.979043723731949 0.873622784938777 0.787250068704775 -0.988021770638818 -0.979043723731949 -0.872082266517952 -0.732816044059994 0.983532747185383 0.830436426821776 -0.983532747185383 -0.802449155288973 0.18108359189641 TRUE TRUE NA NA NA NA NA DTX4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DTX4 NA NA NA ENSG00000110042 ENSE00003627197 NA NA NA NA NA NA NA 0.594144205008104 FALSE NA ENSE00000991477_000 ENSE00000991477 000 11 117053391 117053560 + 48 84 38 NA NA NA NA NA CCAGCCACACCTCCCACGTGGCCACATGCATTTCCTACCTGTACGGTGATGGCCGCCTTCTTGGTCATCGTCTGGTACATGCCGATGAAGGCTACGTTGTTGTCCAGGTCATAGACAGGACACTGCAGAGGGGCGGGAGAGGCAGATGGATGGGAACCTGGCCTGCCCCT 117182674 117182844 NA NA NA NA NA NA AGGGGCAGGCCAGGTTCCCATCCATCTGCCTCTCCCGCCCCTCTGCAGTGTCCTGTCTATGACCTGGACAACAACGTAGCCTTCATCGGCATGTACCAGACGATGACCAAGAAGGCGGCCATCACCGTACAGGTAGGAAATGCATGTGGCCACGTGGGAGGTGTGGCTGG AGGGGCAGGCCAGGTTCCCATCCATCTGCCTCTCCCGCCCCTCTGCAGTGTCCTGTCTATGACCTGGACAACAACGTAGCCTTCATCGGCATGTACCAGACGATGACCAAGAAGGCGGCCATCACCGTACAGGTAGGAAATGCATGTGGCCACGTGGGAGGTGTGGCTGG natural NA NA NA NA NA 163 289 0.87523607100639 0.999452366206067 0.937344218606229 NA NA 0.87523607100639 0.999452366206067 NA NA 0 0 NA 0.937344218606229 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003529247 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00000991632_000 ENSE00000991632 000 20 30507611 30507780 + 56 69 45 NA NA NA NA NA GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACGATGTCCTTCAGCCTACGGAAGAGGAAGATGCCTTTCCCTTGAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 NA NA NA NA NA NA CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC natural 1352 1985 0.849188737701804 0.827193038364951 0.838190888033377 3485 1038 0.666296564612987 0.643141001685541 0.654718783149264 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 0 0 0 0 0.838190888033377 0.654718783149264 0 0 0 FALSE FALSE NA NA NA NA NA TTLL9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTLL9 NA NA NA ENSG00000131044 ENSE00000991632 NA NA NA NA NA NA NA 4.48655268982384e-10 FALSE NA ENSE00000991632_003 ENSE00000991632 003 20 30507611 30507780 + 56 69 45 C T 30507650 654 40 GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACGATGTCCTTCAGCCTACGGAAGAGGAAGATGCCTTTCCCTTGAGACCGGGCTACCTGGGGTGGGATGGGGACAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919846 31919847 31919847 upstr_intron -17 -0.285714285714286 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGTCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 955 271 0.980097559361927 0.987155078867847 0.983626319114887 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA 0.31380099474894 0.344014077182307 0.838190888033377 0.654718783149264 NA 0.328907535965623 NA FALSE NA 0 0.017 . intron_variant MODIFIER TTLL9 HGNC 16118 ENST00000375938 6/16 1 NA GCC C,T 8.275e-06 20:31919847 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 intron_variant 1.014043 0.23111 0.09569 0.166803 0.774172439216043 0.0496096 4.48655268982384e-10 FALSE NA ENSE00000991632_008 ENSE00000991632 008 20 30507611 30507780 + 56 69 45 C G 30507679 659 69 GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACGATGTCCTTCAGCCTACGGAAGAGGAAGATGCCTTTCCCTTCAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919875 31919876 31919876 exon 13 0.188405797101449 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTGAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 146 59 0.867372797361497 0.8 0.833686398680749 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA 0.20107623274851 0.156858998314459 0.838190888033377 0.654718783149264 NA 0.178967615531485 NA FALSE NA 1 6.308 . missense_variant MODERATE TTLL9 HGNC 16118 ENST00000375938 7/17 rs372921246 1 deleterious(0) probably_damaging(0.983) NA G:0 G:0.0001 TCA C,G 1.654e-05 20:31919876 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 missense_variant 4.95632 0.99159 0.97888 0.437478 0.993625070210548 0 4.48655268982384e-10 FALSE 2.62902e-05 ENSE00000991632_009 ENSE00000991632 009 20 30507611 30507780 + 56 69 45 G A 30507682 660 72 GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACGATGTCCTTCAGCCTACGGAAGAGGAAGATGCCTTTCCTTTGAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919878 31919879 31919879 exon 16 0.231884057971014 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAAGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 576 75 0.917391925781283 0.803360436146583 0.860376180963933 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA 0.251095361168296 0.160219434461043 0.838190888033377 0.654718783149264 NA 0.205657397814669 NA FALSE NA 1 7.979 . missense_variant MODERATE TTLL9 HGNC 16118 ENST00000375938 7/17 1 deleterious(0) probably_damaging(1) NA AGG G,A 4.136e-05 20:31919879 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 missense_variant 5.527233 0.98587 0.97684 0.437478 0.998123416427453 0 4.48655268982384e-10 FALSE 3.06679e-05 ENSE00000991632_010 ENSE00000991632 010 20 30507611 30507780 + 56 69 45 G A 30507689 661 79 GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACGATGTCCTTCAGCCTACGGAAGAGGAAGATGTCTTTCCCTTGAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919885 31919886 31919886 exon 23 0.333333333333333 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGACATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 92 20 0.961233978913133 0.942223218531744 0.951728598722438 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA 0.294937414300146 0.299082216846203 0.838190888033377 0.654718783149264 NA 0.297009815573174 NA FALSE NA 1 7.979 . missense_variant MODERATE TTLL9 HGNC 16118 ENST00000375938 7/17 rs200968357&COSM3785368&COSM3785370&COSM3785369 1 deleterious(0) probably_damaging(1) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGC G,A 0.0001489 20:31919886 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 missense_variant 6.372088 0.99142 0.98223 0.437478 0.998612311045785 0 4.48655268982384e-10 FALSE 8.30021e-05 ENSE00000991632_013 ENSE00000991632 013 20 30507611 30507780 + 56 69 45 C T 30507703 664 93 GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACGATGTCCTTCAGCCTACAGAAGAGGAAGATGCCTTTCCCTTGAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919899 31919900 31919900 exon -33 0.536231884057971 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCTGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 3951 488 0.791809784027872 0.8 0.795904892013936 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA 0.125513219414885 0.156858998314459 0.838190888033377 0.654718783149264 NA 0.141186108864672 NA FALSE NA 1 2.219 rs183197517 missense_variant MODERATE TTLL9 HGNC 16118 ENST00000375938 7/17 rs183197517 1 deleterious(0) probably_damaging(0.996) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 4.135e-05 20:31919900 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 missense_variant 7.380844 0.9735 0.82362 0.446893 0.9991120688218 0 4.48655268982384e-10 FALSE 5.69746e-05 ENSE00000991632_014 ENSE00000991632 014 20 30507611 30507780 + 56 69 45 T C 30507705 665 95 GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACGATGTCCTTCAGCCTGCGGAAGAGGAAGATGCCTTTCCCTTGAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919901 31919902 31919902 exon -31 0.565217391304348 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGCAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 266 97 0.944014255852273 0.877436660228473 0.910725458040373 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA 0.277717691239286 0.234295658542932 0.838190888033377 0.654718783149264 NA 0.256006674891109 NA FALSE NA 1 0.829 . synonymous_variant LOW TTLL9 HGNC 16118 ENST00000375938 7/17 1 NA GTA T,C 8.27e-06 20:31919902 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 synonymous_variant 0.426515 0.97012 0.6465 0.446893 0.631542308672974 0 4.48655268982384e-10 FALSE 1.75062e-05 ENSE00000991632_016 ENSE00000991632 016 20 30507611 30507780 + 56 69 45 C T 30507720 667 110 GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACAATGTCCTTCAGCCTACGGAAGAGGAAGATGCCTTTCCCTTGAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919916 31919917 31919917 exon -16 0.782608695652174 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATTGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 298 1203 0.0340748452905766 0.0244603449930943 0.0292675951418355 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA -0.63222171932241 -0.618680656692446 0.838190888033377 0.654718783149264 NA -0.625451188007428 NA TRUE NA 1 1.167 . synonymous_variant LOW TTLL9 HGNC 16118 ENST00000375938 7/17 1 NA TCG C,T 6.616e-05 20:31919917 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 synonymous_variant 2.801527 0.99122 0.89994 0.446893 0.81008766289871 0 4.48655268982384e-10 FALSE 5.26556e-05 ENSE00000991632_017 ENSE00000991632 017 20 30507611 30507780 + 56 69 45 G A 30507721 668 111 GGTCAGAGGAGGGTTCAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCATGATGTCCTTCAGCCTACGGAAGAGGAAGATGCCTTTCCCTTGAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919917 31919918 31919918 exon -15 0.797101449275362 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCATGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 83 171 0.801939652739807 0.820371029807409 0.811155341273608 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA 0.13564308812682 0.177230028121869 0.838190888033377 0.654718783149264 NA 0.156436558124344 NA FALSE NA 1 3.764 . missense_variant MODERATE TTLL9 HGNC 16118 ENST00000375938 7/17 rs531929858&COSM395873&COSM395874 1 tolerated(0.4) benign(0.003) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT A,A 2.481e-05 20:31919918 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 missense_variant 3.158963 0.94926 0.07883 0.446893 0.944970372520291 0 4.48655268982384e-10 FALSE NA ENSE00000991632_020 ENSE00000991632 020 20 30507611 30507780 + 56 69 45 G A 30507765 671 155 GGTCAGAGGAGGGTTTAGGGAGGAAGGGGGAAGAGGCAGGCTCACCTTCCTCCAGTCCACGATGTCCTTCAGCCTACGGAAGAGGAAGATGCCTTTCCCTTGAGACCGGGCTACCTGGGGTGGGATGGGGGCAGAAAGCCAGCTCTTAGCTCTGCGTGGTTCCTTGTTGG 31919807 31919977 31919961 31919962 31919962 downstr_intron 30 1.68181818181818 CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTAAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC mutant NA NA NA NA NA 1162 306 0.811723335412652 0.81027945168048 0.811001393546566 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 NA NA 0.145426770799665 0.16713844999494 0.838190888033377 0.654718783149264 NA 0.156282610397302 NA FALSE NA 0 -0.279 . intron_variant MODIFIER TTLL9 HGNC 16118 ENST00000375938 7/16 1 NA TGA G,A 8.275e-06 20:31919962 TTLL9 HGNC Symbol protein_coding 74261 ENSG00000131044 ENSE00000991632 intron_variant -0.026276 0.10312 0.00258 0.166803 0.61689037870135 0.0639536 4.48655268982384e-10 FALSE NA ENSE00000991632_BRK ENSE00000991632 BRK 20 30507611 30507780 + 56 69 45 A,G; T,T NA NA NA CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCTTGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGCCGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC 31919807 31919977 NA NA NA NA NA NA CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCTTGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGCCGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC CCAACAAGGAACCACGCAGAGCTAAGAGCTGGCTTTCTGCCCCCATCCCACCCCAGGTAGCCCGGTCTCAAGGGAAAGGCATCTTCCTCTTCCGTAGGCTGAAGGACATCGTGGACTGGAGGAAGGTGAGCCTGCCTCTTCCCCCTTCCTCCCTGAACCCTCCTCTGACC control 335 112 0 0 0 NA NA NA NA NA 0.849188737701804 0.827193038364951 0.666296564612987 0.643141001685541 -0.849188737701804 -0.827193038364951 NA NA 0.838190888033377 0.654718783149264 -0.838190888033377 NA NA NA TRUE NA NA NA NA NA TTLL9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTLL9 NA NA NA ENSG00000131044 ENSE00000991632 NA NA NA NA NA NA NA 4.48655268982384e-10 FALSE NA ENSE00000991702_000 ENSE00000991702 000 20 36851910 36852079 - 30 99 41 NA NA NA NA NA GGCCTGGGCTGACACCTGCCCTTTGGTCCTCTGTCCTGCAGAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGGTGAGCCTGGAGCATGGTGACTGGGGAAGC 38223507 38223677 NA NA NA NA NA NA GGCCTGGGCTGACACCTGCCCTTTGGTCCTCTGTCCTGCAGAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGGTGAGCCTGGAGCATGGTGACTGGGGAAGC GGCCTGGGCTGACACCTGCCCTTTGGTCCTCTGTCCTGCAGAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGGTGAGCCTGGAGCATGGTGACTGGGGAAGC natural 214 174 0.994130680908392 0.996333826013125 0.995232253460759 1032 1499 0.967549086608677 0.981956761699239 0.974752924153958 0.994130680908392 0.996333826013125 0.967549086608677 0.981956761699239 0 0 0 0 0.995232253460759 0.974752924153958 0 0 0 FALSE FALSE NA NA NA NA NA KIAA1755 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIAA1755 NA NA NA ENSG00000149633 ENSE00000991702 NA NA NA NA NA NA NA 2.32481835791205e-15 FALSE NA ENSE00000991702_025 ENSE00000991702 025 20 36851910 36852079 - 30 99 41 G A 36852049 1146 31 GGCCTGGGCTGACACCTGCCCTTTGGTCCTTTGTCCTGCAGAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGGTGAGCCTGGAGCATGGTGACTGGGGAAGC 38223507 38223677 38223646 38223647 38223647 upstr_intron -11 -0.24390243902439 GGCCTGGGCTGACACCTGCCCTTTGGTCCTTTGTCCTGCAGAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGGTGAGCCTGGAGCATGGTGACTGGGGAAGC GGCCTGGGCTGACACCTGCCCTTTGGTCCTCTGTCCTGCAGAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGGTGAGCCTGGAGCATGGTGACTGGGGAAGC mutant NA NA NA NA NA 11 25 1 1 1 0.994130680908392 0.996333826013125 0.967549086608677 0.981956761699239 NA NA 0.0324509133913228 0.0180432383007607 0.995232253460759 0.974752924153958 NA 0.0252470758460417 NA FALSE NA 0.251 0.83 . intron_variant MODIFIER KIAA1755 HGNC 29372 ENST00000435901 1/5 1 NA AGA G,A 4.942e-05 20:38223647 KIAA1755 HGNC Symbol protein_coding 50284 ENSG00000149633 ENSE00000991702 intron_variant 2.044253 0.31456 0.06936 0.053691 0.863292021971066 0.147948 2.32481835791205e-15 FALSE 3.43849e-05 ENSE00000991702_BRK ENSE00000991702 BRK 20 36851910 36852079 - 30 99 41 A,G; T,T NA NA NA GGCCTGGGCTGACACCTGCCCTTTGGTCCTCTGTCCTGCTTAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGCCGAGCCTGGAGCATGGTGACTGGGGAAGC 38223507 38223677 NA NA NA NA NA NA GGCCTGGGCTGACACCTGCCCTTTGGTCCTCTGTCCTGCTTAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGCCGAGCCTGGAGCATGGTGACTGGGGAAGC GGCCTGGGCTGACACCTGCCCTTTGGTCCTCTGTCCTGCAGAAGCTGGACCCTTTCCTTGCTGACCTCCACCAGGCCTCTTCCCTGCTACAAGCTTCCATCGAGGAATTCGAGAAGGCCGACCCCCCTGGGGGGATGCAGGTGAGCCTGGAGCATGGTGACTGGGGAAGC control 16 11 0 0 0 NA NA NA NA NA 0.994130680908392 0.996333826013125 0.967549086608677 0.981956761699239 -0.994130680908392 -0.996333826013125 NA NA 0.995232253460759 0.974752924153958 -0.995232253460759 NA NA NA TRUE NA NA NA NA NA KIAA1755 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIAA1755 NA NA NA ENSG00000149633 ENSE00000991702 NA NA NA NA NA NA NA 2.32481835791205e-15 FALSE NA ENSE00000991771_000 ENSE00000991771 000 20 34563808 34563977 + 63 54 53 NA NA NA NA NA GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 NA NA NA NA NA NA GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT natural 63 82 0.998116788411486 0.997142977085622 0.997629882748554 1130 6377 0.993271755580784 0.939389145938233 0.966330450759509 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 0 0 0 0 0.997629882748554 0.966330450759509 0 0 0 FALSE FALSE NA NA NA NA NA CNBD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNBD2 NA NA NA ENSG00000149646 ENSE00000991771 NA NA NA NA NA NA NA 2.29296795546672e-07 FALSE NA ENSE00000991771_001 ENSE00000991771 001 20 34563808 34563977 + 63 54 53 T C 34563820 877 13 GATGCAAAGTTCCAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975897 35975898 35975898 upstr_intron -51 -0.793650793650794 GATGCAAAGTTCCAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 920 641 0.996288939429546 0.996678754387378 0.996483846908462 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00301718384876171 0.0572896084491445 0.997629882748554 0.966330450759509 NA 0.0301533961489531 NA FALSE NA 0.001 0.694 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 1 NA CTA T,C 8.236e-06 20:35975898 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.110737 0.19045 0.02319 0.053691 0.524879946029387 0.0475615 2.29296795546672e-07 FALSE 4.08774e-06 ENSE00000991771_002 ENSE00000991771 002 20 34563808 34563977 + 63 54 53 G A 34563822 878 15 GATGCAAAGTTCTAAGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975899 35975900 35975900 upstr_intron -49 -0.761904761904762 GATGCAAAGTTCTAAGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 832 1127 0.998205592833113 0.995908408485098 0.997057000659105 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00493383725232832 0.0565192625468645 0.997629882748554 0.966330450759509 NA 0.0307265498995964 NA FALSE NA 0 0.141 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 1 NA AGG G,A 8.236e-06 20:35975900 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.167808 0.16781 0.02295 0.053691 0.249740121871493 0.0475234 2.29296795546672e-07 FALSE 4.08644e-06 ENSE00000991771_003 ENSE00000991771 003 20 34563808 34563977 + 63 54 53 G A 34563825 879 18 GATGCAAAGTTCTAGGGACAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975902 35975903 35975903 upstr_intron -46 -0.714285714285714 GATGCAAAGTTCTAGGGACAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 16 1029 1 0.997631320045024 0.998815660022512 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.0582421741067904 0.997629882748554 0.966330450759509 NA 0.0324852092630031 NA FALSE NA 0 0.115 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 1 NA GGC G,A 8.236e-06 20:35975903 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant -0.029891 0.15408 0.01772 0.053691 0.237415765643357 0.0475234 2.29296795546672e-07 FALSE 4.0829e-06 ENSE00000991771_005 ENSE00000991771 005 20 34563808 34563977 + 63 54 53 G C 34563828 881 21 GATGCAAAGTTCTAGGGGCACTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975905 35975906 35975906 upstr_intron -43 -0.666666666666667 GATGCAAAGTTCTAGGGGCACTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 720 349 1 1 1 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.0606108540617666 0.997629882748554 0.966330450759509 NA 0.0336695492404911 NA FALSE NA 0 -0.005 rs41293098 intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 rs41293098 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 AGT G,C 8.236e-06 20:35975906 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant -0.271276 0.15672 0.03482 0.053691 0.4282827844187 0.0475234 2.29296795546672e-07 FALSE 4.07491e-06 ENSE00000991771_006 ENSE00000991771 006 20 34563808 34563977 + 63 54 53 T G 34563839 882 32 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATGCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975916 35975917 35975917 upstr_intron -32 -0.492063492063492 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATGCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 1697 234 0.998952528505002 0.999323533659657 0.99913803108233 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00568077292421798 0.059934387721424 0.997629882748554 0.966330450759509 NA 0.032807580322821 NA FALSE NA 0.003 1.075 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 rs201342046 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 G:0.0014 G:0 TTC T,G 0.0001483 20:35975917 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.210248 0.19398 0.05395 0.053691 0.612064974895527 0.0623746 2.29296795546672e-07 FALSE 9.35385e-05 ENSE00000991771_007 ENSE00000991771 007 20 34563808 34563977 + 63 54 53 C T 34563843 883 36 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCTCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975920 35975921 35975921 upstr_intron -28 -0.428571428571429 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCTCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 464 446 1 0.985176263545464 0.992588131772732 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.045787117607231 0.997629882748554 0.966330450759509 NA 0.0262576810132233 NA FALSE NA 0 -0.245 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 1 NA CCC C,T 8.236e-06 20:35975921 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.677118 0.17747 0.01281 0.053691 0.704663511843798 0.0623746 2.29296795546672e-07 FALSE 4.06613e-06 ENSE00000991771_008 ENSE00000991771 008 20 34563808 34563977 + 63 54 53 C G 34563851 884 44 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTGCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975928 35975929 35975929 upstr_intron -20 -0.301587301587302 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTGCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 171 972 1 0.832909479656388 0.916454739828194 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 -0.106479666281845 0.997629882748554 0.966330450759509 NA -0.0498757109313148 NA FALSE NA 0.001 0.534 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 1 NA TCC C,G 8.236e-06 20:35975929 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.43021 0.1809 0.04909 0.053691 0.703585149566933 0.0617083 2.29296795546672e-07 FALSE 4.06412e-06 ENSE00000991771_009 ENSE00000991771 009 20 34563808 34563977 + 63 54 53 G C 34563855 885 48 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTCCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975932 35975933 35975933 upstr_intron -16 -0.238095238095238 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTCCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 2475 2218 0.9920196951779 0.998837459050189 0.995428577114045 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.00125206040288472 0.059448313111956 0.997629882748554 0.966330450759509 NA 0.0290981263545356 NA FALSE NA 0 -0.369 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 rs200544673 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TGC G,C 8.236e-06 20:35975933 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant -0.112461 0.14495 0.00564 0.053691 0.631378554165487 0.0469663 2.29296795546672e-07 FALSE 4.06392e-06 ENSE00000991771_010 ENSE00000991771 010 20 34563808 34563977 + 63 54 53 C T 34563856 886 49 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGTCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975933 35975934 35975934 upstr_intron -15 -0.222222222222222 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGTCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 335 22 1 0.95580630414355 0.977903152071775 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.0164171582053169 0.997629882748554 0.966330450759509 NA 0.0115727013122663 NA FALSE NA 0 -1.605 rs6119688 intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 2/11 rs6119688 1 T:0.0148 T:0.056 T:0 NA T:0 T:0 T:0 T:0.0531 T:0.0005 GCC C,T 0.005 20:35975934 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.212859 0.14999 0.00706 0.053691 0.489594932220798 0.0469663 2.29296795546672e-07 FALSE 0.00419355 ENSE00000991771_011 ENSE00000991771 011 20 34563808 34563977 + 63 54 53 G T 34563876 887 69 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAATATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975953 35975954 35975954 exon 6 0.111111111111111 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAATATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 482 420 1 0.998721263430725 0.999360631715363 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.059332117492492 0.997629882748554 0.966330450759509 NA 0.0330301809558539 NA FALSE NA 1 4.031 . missense_variant MODERATE CNBD2 HGNC 16145 ENST00000373973 3/12 1 deleterious(0.03) possibly_damaging(0.776) NA AGA G,T 8.236e-06 20:35975954 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 missense_variant 4.970178 0.97994 0.89856 0.487112 0.996891503680193 0 2.29296795546672e-07 FALSE NA ENSE00000991771_012 ENSE00000991771 012 20 34563808 34563977 + 63 54 53 C G 34563880 888 73 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGGAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975957 35975958 35975958 exon 10 0.185185185185185 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGGAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 459 655 0.995555689754731 0.99806342851056 0.996809559132646 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00228393417394679 0.0586742825723265 0.997629882748554 0.966330450759509 NA 0.0304791083731367 NA FALSE NA 0.131 0.651 . missense_variant MODERATE CNBD2 HGNC 16145 ENST00000373973 3/12 1 tolerated(0.19) benign(0.01) NA GCA C,G 8.236e-06 20:35975958 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 missense_variant 0.690448 0.96825 0.59499 0.487112 0.951638622155029 0 2.29296795546672e-07 FALSE 4.06194e-06 ENSE00000991771_013 ENSE00000991771 013 20 34563808 34563977 + 63 54 53 A T 34563883 889 76 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAATGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975960 35975961 35975961 exon 13 0.240740740740741 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAATGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 1970 2065 0.924059612084915 0.999240795195612 0.961650203640264 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.0692121434958693 0.0598516492573787 0.997629882748554 0.966330450759509 NA -0.00468024711924531 NA FALSE NA 0.151 0.538 . missense_variant MODERATE CNBD2 HGNC 16145 ENST00000373973 3/12 1 tolerated(0.1) benign(0.002) NA AAG A,T 8.236e-06 20:35975961 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 missense_variant 0.286096 0.95188 0.27859 0.487112 0.69288625225383 0 2.29296795546672e-07 FALSE 4.06164e-06 ENSE00000991771_014 ENSE00000991771 014 20 34563808 34563977 + 63 54 53 G T 34563887 890 80 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCTAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975964 35975965 35975965 exon 17 0.314814814814815 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCTAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 143 1136 0.854422081609543 0.958510087638789 0.906466084624166 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.138849673971241 0.0191209417005556 0.997629882748554 0.966330450759509 NA -0.0598643661353426 NA FALSE NA 0.001 0.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:35975965 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 missense_variant 5.060468 0.58447 0.06205 0.487112 0.988482505269615 0 2.29296795546672e-07 FALSE 7.31154e-05 ENSE00000991771_015 ENSE00000991771 015 20 34563808 34563977 + 63 54 53 G A 34563887 891 80 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCAAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975964 35975965 35975965 exon 17 0.314814814814815 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCAAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 301 270 1 0.984536939137703 0.992268469568852 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.0451477931994695 0.997629882748554 0.966330450759509 NA 0.0259380188093426 NA FALSE NA 0.001 0.72 NA NA NA CNBD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNBD2 NA NA NA ENSG00000149646 ENSE00000991771 missense_variant 2.489151 0.57028 0.04118 0.487112 0.997383728892679 0 2.29296795546672e-07 FALSE 0.000194975 ENSE00000991771_017 ENSE00000991771 017 20 34563808 34563977 + 63 54 53 A G 34563894 893 87 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACGTTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975971 35975972 35975972 exon 24 0.444444444444444 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACGTTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 376 78 0.991328281462774 1 0.995664140731387 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.00194347411801021 0.0606108540617666 0.997629882748554 0.966330450759509 NA 0.0293336899718782 NA FALSE NA 0 -1.813 rs143262184 synonymous_variant LOW CNBD2 HGNC 16145 ENST00000373973 3/12 rs143262184 1 G:0.0028 G:0 G:0 NA G:0.0139 G:0 G:0 CAT A,G 0.001548 20:35975972 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 synonymous_variant 0.217841 0.35468 0.0102 0.487112 0.682931595057488 0 2.29296795546672e-07 FALSE 0.00147043 ENSE00000991771_018 ENSE00000991771 018 20 34563808 34563977 + 63 54 53 A G 34563899 894 92 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGGTACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975976 35975977 35975977 exon -26 0.537037037037037 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGGTACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 25 58 1 1 1 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.0606108540617666 0.997629882748554 0.966330450759509 NA 0.0336695492404911 NA FALSE NA 1 2.427 . missense_variant MODERATE CNBD2 HGNC 16145 ENST00000373973 3/12 1 deleterious(0.02) benign(0.179) NA GAT A,G 6.589e-05 20:35975977 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 missense_variant 5.484024 0.96144 0.79941 0.487112 0.996659348161787 0 2.29296795546672e-07 FALSE 5.68676e-05 ENSE00000991771_019 ENSE00000991771 019 20 34563808 34563977 + 63 54 53 T G 34563911 895 104 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTGCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35975988 35975989 35975989 exon -14 0.759259259259259 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTGCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 689 392 0.996729280764581 1 0.998364640382291 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00345752518379683 0.0606108540617666 0.997629882748554 0.966330450759509 NA 0.0320341896227817 NA FALSE NA 0.766 3.324 . missense_variant MODERATE CNBD2 HGNC 16145 ENST00000373973 3/12 1 deleterious(0) benign(0.299) NA TTC T,G 8.236e-06 20:35975989 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 missense_variant 5.928615 0.9663 0.77486 0.487112 0.991635825841993 0 2.29296795546672e-07 FALSE 4.0624e-06 ENSE00000991771_020 ENSE00000991771 020 20 34563808 34563977 + 63 54 53 A C 34563923 896 116 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGCGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976000 35976001 35976001 exon -2 0.981481481481482 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGCGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 504 332 0.854091282972552 1 0.927045641486276 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.139180472608232 0.0606108540617666 0.997629882748554 0.966330450759509 NA -0.0392848092732329 NA FALSE NA 0.965 1.544 . missense_variant&splice_region_variant MODERATE CNBD2 HGNC 16145 ENST00000373973 3/12 1 deleterious(0.03) benign(0.103) NA GAG A,C 2.471e-05 20:35976001 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 missense_variant 2.064593 0.84806 0.32992 0.487112 0.971748825224634 0 2.29296795546672e-07 FALSE 1.21955e-05 ENSE00000991771_021 ENSE00000991771 021 20 34563808 34563977 + 63 54 53 C G 34563930 897 123 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGGATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976007 35976008 35976008 downstr_intron 6 1.11538461538462 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGGATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 822 106 0.999066570882604 0.981503258905092 0.990284914893848 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00579481530181969 0.0421141129668587 0.997629882748554 0.966330450759509 NA 0.0239544641343392 NA FALSE NA 0.011 0.09 . splice_region_variant&intron_variant LOW CNBD2 HGNC 16145 ENST00000373973 3/11 1 NA GCA C,G 8.236e-06 20:35976008 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 splice_region_variant 0.327739 0.14651 0.03197 0.053691 0.517912001788495 0.0481991 2.29296795546672e-07 FALSE 4.06603e-06 ENSE00000991771_022 ENSE00000991771 022 20 34563808 34563977 + 63 54 53 A G 34563933 898 126 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATGGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976010 35976011 35976011 downstr_intron 9 1.17307692307692 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATGGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 1491 259 0.998017707652175 0.999113473101382 0.998565590376779 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00474595207139061 0.0597243271631487 0.997629882748554 0.966330450759509 NA 0.0322351396172696 NA FALSE NA 0 0.224 rs76180269 intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 3/11 rs76180269 1 G:0.0413 G:0.1475 G:0.0159 NA G:0 G:0 G:0.001 G:0.1158 G:0.0002 TAG A,G 0.011 20:35976011 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant -0.04379 0.20981 0.04848 0.053691 0.521456048157911 0.0481991 2.29296795546672e-07 FALSE 0.00862303 ENSE00000991771_023 ENSE00000991771 023 20 34563808 34563977 + 63 54 53 C G 34563937 899 130 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTGGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976014 35976015 35976015 downstr_intron 13 1.25 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTGGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 214 251 0.980838023174469 0.998469231104039 0.989653627139254 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.0124337324063148 0.0590800851658058 0.997629882748554 0.966330450759509 NA 0.0233231763797455 NA FALSE NA 0 0.044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:35976015 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant -0.466008 0.22394 0.11753 0.053691 0.318345432062782 0.0481991 2.29296795546672e-07 FALSE 1.22147e-05 ENSE00000991771_024 ENSE00000991771 024 20 34563808 34563977 + 63 54 53 C T 34563937 900 130 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTTGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976014 35976015 35976015 downstr_intron 13 1.25 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTTGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 3173 365 0.96037017008053 0.993884833418053 0.977127501749292 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.0329015855002541 0.05449568747982 0.997629882748554 0.966330450759509 NA 0.010797050989783 NA FALSE NA 0 0.044 NA NA NA CNBD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNBD2 NA NA NA ENSG00000149646 ENSE00000991771 intron_variant -0.305355 0.21776 0.11374 0.053691 0.391320842205282 0.0481991 2.29296795546672e-07 FALSE 4.07156e-06 ENSE00000991771_025 ENSE00000991771 025 20 34563808 34563977 + 63 54 53 G A 34563938 901 131 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCAAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976015 35976016 35976016 downstr_intron 14 1.26923076923077 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCAAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 393 781 0.987280490184429 0.999797446912891 0.99353896854866 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.00599126539635564 0.0604083009746578 0.997629882748554 0.966330450759509 NA 0.0272085177891511 NA FALSE NA 0.001 0.543 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 3/11 1 NA CGA G,A 4.942e-05 20:35976016 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant -0.200507 0.22258 0.04658 0.053691 0.285172942466663 0.0481991 2.29296795546672e-07 FALSE 2.44535e-05 ENSE00000991771_026 ENSE00000991771 026 20 34563808 34563977 + 63 54 53 C A 34563946 902 139 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGATGTGGGGGAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976023 35976024 35976024 downstr_intron 22 1.42307692307692 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGATGTGGGGGAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 279 92 1 1 1 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.0606108540617666 0.997629882748554 0.966330450759509 NA 0.0336695492404911 NA FALSE NA 0.118 -0.022 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 3/11 rs371930300 1 NA A:0.0002 A:0 GCT C,A 8.236e-06 20:35976024 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.240962 0.21263 0.10377 0.053691 0.615171883647273 0.0481991 2.29296795546672e-07 FALSE NA ENSE00000991771_027 ENSE00000991771 027 20 34563808 34563977 + 63 54 53 G A 34563954 903 147 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGAAATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976031 35976032 35976032 downstr_intron 30 1.57692307692308 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGAAATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 1063 1406 0.999728684114024 0.998168527082518 0.998948605598271 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00645692853323954 0.0587793811442842 0.997629882748554 0.966330450759509 NA 0.0326181548387618 NA FALSE NA 0 -0.704 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 3/11 rs375243776 1 NA A:0.0002 A:0 GGA G,A 8.236e-06 20:35976032 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.049342 0.22178 0.04178 0.053691 0.369618231647219 0.0489836 2.29296795546672e-07 FALSE 8.15235e-06 ENSE00000991771_028 ENSE00000991771 028 20 34563808 34563977 + 63 54 53 A G 34563955 904 148 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGGATTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976032 35976033 35976033 downstr_intron 31 1.59615384615385 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGGATTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 2512 720 0.998560278483891 0.884211431749569 0.94138585511673 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.005288522903107 -0.055177714188664 0.997629882748554 0.966330450759509 NA -0.0249445956427785 NA FALSE NA 0.001 0.372 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 3/11 1 NA GAA A,G 8.236e-06 20:35976033 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant -0.164757 0.17024 0.02662 0.053691 0.297796052174308 0.0489836 2.29296795546672e-07 FALSE 8.15381e-06 ENSE00000991771_029 ENSE00000991771 029 20 34563808 34563977 + 63 54 53 A C 34563956 905 149 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGACTTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976033 35976034 35976034 downstr_intron 32 1.61538461538462 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGACTTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 213 814 1 0.811850331448971 0.905925165724486 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 -0.127538814489262 0.997629882748554 0.966330450759509 NA -0.0604052850350232 NA FALSE NA 0 -0.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:35976034 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant -0.294623 0.16184 0.0673 0.053691 0.419302532470485 0.0489836 2.29296795546672e-07 FALSE 2.03819e-05 ENSE00000991771_030 ENSE00000991771 030 20 34563808 34563977 + 63 54 53 A G 34563956 906 149 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAGTTTTCTTTCTGCACCCTGGCT 35975885 35976055 35976033 35976034 35976034 downstr_intron 32 1.61538461538462 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAGTTTTCTTTCTGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 187 344 1 1 1 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA 0.00672824441921571 0.0606108540617666 0.997629882748554 0.966330450759509 NA 0.0336695492404911 NA FALSE NA 0 -0.029 NA NA NA CNBD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNBD2 NA NA NA ENSG00000149646 ENSE00000991771 intron_variant -0.073997 0.15665 0.02752 0.053691 0.346429278942373 0.0489836 2.29296795546672e-07 FALSE 4.07637e-06 ENSE00000991771_031 ENSE00000991771 031 20 34563808 34563977 + 63 54 53 T C 34563966 907 159 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCCGCACCCTGGCT 35975885 35976055 35976043 35976044 35976044 downstr_intron 42 1.80769230769231 GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCCGCACCCTGGCT GATGCAAAGTTCTAGGGGCAGTCTTGCTGATTCTCCCTCTTCTCCCTGCCCTCTTTCTTTCAGAAAAAGATGCAAAGCCGAGTCACATTTGATACCATGGACTTCATTGCAGAGGAGGTATGCATAGCTCGAAACTTGCTGTGGGGGAATTTTCTTTCTGCACCCTGGCT mutant NA NA NA NA NA 74 108 0.98072957274186 0.993011157325426 0.986870365033643 0.998116788411486 0.997142977085622 0.993271755580784 0.939389145938233 NA NA -0.0125421828389241 0.0536220113871922 0.997629882748554 0.966330450759509 NA 0.0205399142741341 NA FALSE NA 0.001 0.475 . intron_variant MODIFIER CNBD2 HGNC 16145 ENST00000373973 3/11 rs538195153 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTG T,C 8.236e-06 20:35976044 CNBD2 HGNC Symbol protein_coding 76136 ENSG00000149646 ENSE00000991771 intron_variant 0.045019 0.24751 0.07612 0.053691 0.676130823985506 0.0489836 2.29296795546672e-07 FALSE 4.08624e-06 ENSE00000996423_000 ENSE00000996423 000 11 114314527 114314696 + 51 78 41 NA NA NA NA NA TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 NA NA NA NA NA NA TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG natural 38 56 0.926039872914466 0.876126163278821 0.901083018096643 1179 1942 0.902693426714457 0.899776004823804 0.90123471576913 0.926039872914466 0.876126163278821 0.902693426714457 0.899776004823804 0 0 0 0 0.901083018096643 0.90123471576913 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00000996423 NA NA NA NA NA NA NA NA NA NA ENSE00000996423_007 ENSE00000996423 007 11 114314527 114314696 + 51 78 41 C G 114314569 2538 43 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCGATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443846 114443847 114443847 upstr_intron -9 -0.156862745098039 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCGATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 129 281 0.8 0.93623221827178 0.86811610913589 0.926039872914466 0.876126163278821 0.902693426714457 0.899776004823804 NA NA -0.102693426714456 0.0364562134479764 0.901083018096643 0.90123471576913 NA -0.03311860663324 NA FALSE NA 0 -0.522 NA NA NA REXO2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REXO2 NA NA NA ENSG00000076043 ENSE00000996423 intron_variant -0.400095 0.26622 0.23409 0.294411 0.585964366622558 0.216353 0.888428672321779 FALSE 4.39213e-06 ENSE00000996872_000 ENSE00000996872 000 4 123977479 123977648 + 63 54 53 NA NA NA NA NA GACAGAAGTGTGATTCTCCTGTGCTGAGTGCCACTAAAGGCACAATTTCTTACCTCTCTAACTGCTCTTTCAGATTCACCAACATATTTATTCATTAATTCAGGCCCCTGCATGAAAAGAAAACAACTGTTCAGTGTCTTTATAAATGCAATCATGTATATTTCTTCCAA 123056323 123056493 NA NA NA NA NA NA TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC natural NA NA NA NA NA 913 517 0.965973254567777 0.983797388503849 0.974885321535813 NA NA 0.965973254567777 0.983797388503849 NA NA 0 0 NA 0.974885321535813 NA 0 NA FALSE NA NA NA NA NA NA SPATA5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPATA5 NA NA NA ENSG00000145375 ENSE00003604170 NA NA NA NA NA NA NA 4.64814283804171e-10 FALSE NA ENSE00000996872_003 ENSE00000996872 003 4 123977479 123977648 + 63 54 53 T C 123977504 1532 26 GACAGAAGTGTGATTCTCCTGTGCTGAGTGCCACTAAAGGCACAATTTCTTACCTCTCTAACTGCTCTTTCAGATTCACCAACATATTTATTCATTAATTCAGGCCCCTGCATGAAAAGAAAACAACTGTTCAGTGTCTTTATAGATGCAATCATGTATATTTCTTCCAA 123056323 123056493 123056348 123056349 123056349 upstr_intron -38 -0.587301587301587 TTGGAAGAAATATACATGATTGCATCTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC mutant NA NA NA NA NA 269 53 1 1 1 NA NA 0.965973254567777 0.983797388503849 NA NA 0.0340267454322229 0.0162026114961513 NA 0.974885321535813 NA 0.0251146784641871 NA FALSE NA 0.035 0.185 . intron_variant&non_coding_transcript_variant MODIFIER SPATA5 HGNC 18119 ENST00000422835 11/14 rs368861462 1 NA C:0.0002 C:0 TTT T,C 8.237e-06 4:123056349 SPATA5 HGNC Symbol protein_coding 396376 ENSG00000145375 ENSE00003604170 intron_variant 1.143682 0.30842 0.17983 0.119485 0.906561425534283 0.128704 4.64814283804171e-10 FALSE 4.55506e-06 ENSE00000996872_010 ENSE00000996872 010 4 123977479 123977648 + 63 54 53 G T 123977544 1539 66 GACAGAAGTGTGATTCTCCTGTGCTGAGTGCCACTAAAGGCACAATTTCTTACCTCTCTAACTGCTCTTTCAGATTCACCAACATATTTATTCATTAATTCAGGACCCTGCATGAAAAGAAAACAACTGTTCAGTGTCTTTATAAATGCAATCATGTATATTTCTTCCAA 123056323 123056493 123056388 123056389 123056389 exon 3 0.0555555555555556 TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGTCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC mutant NA NA NA NA NA 26 158 1 1 1 NA NA 0.965973254567777 0.983797388503849 NA NA 0.0340267454322229 0.0162026114961513 NA 0.974885321535813 NA 0.0251146784641871 NA FALSE NA 0.14 -0.73 rs76464534 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SPATA5 HGNC 18119 ENST00000422835 12/15 1 NA GGC G,T 8.237e-06 4:123056389 SPATA5 HGNC Symbol protein_coding 396376 ENSG00000145375 ENSE00003604170 splice_region_variant 0.943263 0.85821 0.16634 0.615465 0.509777649054194 0 4.64814283804171e-10 FALSE NA ENSE00000996872_011 ENSE00000996872 011 4 123977479 123977648 + 63 54 53 A C 123977550 1540 72 GACAGAAGTGTGATTCTCCTGTGCTGAGTGCCACTAAAGGCACAATTTCTTACCTCTCTAACTGCTCTTTCAGATTCACCAACATATTTATTCATTAAGTCAGGCCCCTGCATGAAAAGAAAACAACTGTTCAGTGTCTTTATAAATGCAATCATGTATATTTCTTCCAA 123056323 123056493 123056394 123056395 123056395 exon 9 0.166666666666667 TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGACTTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC mutant NA NA NA NA NA 241 29 1 0.921766284203196 0.960883142101598 NA NA 0.965973254567777 0.983797388503849 NA NA 0.0340267454322229 -0.0620311043006524 NA 0.974885321535813 NA -0.0140021794342147 NA FALSE NA 0.99 0.428 NA NA NA SPATA5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:123056395 SPATA5 HGNC Symbol protein_coding 396376 ENSG00000145375 ENSE00003604170 missense_variant 5.216113 0.89984 0.67451 0.615465 0.998499680981175 0 4.64814283804171e-10 FALSE 8.17922e-05 ENSE00000996872_016 ENSE00000996872 016 4 123977479 123977648 + 63 54 53 A G 123977574 1545 96 GACAGAAGTGTGATTCTCCTGTGCTGAGTGCCACTAAAGGCACAATTTCTTACCTCTCTAACTGCTCTTTCAGACTCACCAACATATTTATTCATTAATTCAGGCCCCTGCATGAAAAGAAAACAACTGTTCAGTGTCTTTATAAATGCAATCATGTATATTTCTTCCAA 123056323 123056493 123056418 123056419 123056419 exon -22 0.611111111111111 TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAGTCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC mutant NA NA NA NA NA 246 117 0.999664938747622 1 0.999832469373811 NA NA 0.965973254567777 0.983797388503849 NA NA 0.0336916841798446 0.0162026114961513 NA 0.974885321535813 NA 0.024947147837998 NA FALSE NA 1 0.726 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SPATA5 HGNC 18119 ENST00000422835 12/15 1 NA AAT A,G 1.647e-05 4:123056419 SPATA5 HGNC Symbol protein_coding 396376 ENSG00000145375 ENSE00003604170 synonymous_variant 1.114432 0.8881 0.4454 0.615465 0.69922736641282 0 4.64814283804171e-10 FALSE 8.15528e-06 ENSE00000996872_017 ENSE00000996872 017 4 123977479 123977648 + 63 54 53 A G 123977579 1546 101 GACAGAAGTGTGATTCTCCTGTGCTGAGTGCCACTAAAGGCACAATTTCTTACCTCTCTAACTGCTCTTCCAGATTCACCAACATATTTATTCATTAATTCAGGCCCCTGCATGAAAAGAAAACAACTGTTCAGTGTCTTTATAAATGCAATCATGTATATTTCTTCCAA 123056323 123056493 123056423 123056424 123056424 exon -17 0.703703703703704 TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGGAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC TTGGAAGAAATATACATGATTGCATTTATAAAGACACTGAACAGTTGTTTTCTTTTCATGCAGGGGCCTGAATTAATGAATAAATATGTTGGTGAATCTGAAAGAGCAGTTAGAGAGGTAAGAAATTGTGCCTTTAGTGGCACTCAGCACAGGAGAATCACACTTCTGTC mutant NA NA NA NA NA 57 426 1 1 1 NA NA 0.965973254567777 0.983797388503849 NA NA 0.0340267454322229 0.0162026114961513 NA 0.974885321535813 NA 0.0251146784641871 NA FALSE NA 1 6.918 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SPATA5 HGNC 18119 ENST00000422835 12/15 1 NA GAA A,G 8.237e-06 4:123056424 SPATA5 HGNC Symbol protein_coding 396376 ENSG00000145375 ENSE00003604170 missense_variant 7.014894 0.94717 0.91851 0.615465 0.999049969945422 0 4.64814283804171e-10 FALSE 4.07774e-06 ENSE00000997922_000 ENSE00000997922 000 10 61955873 61956042 - 30 99 41 NA NA NA NA NA ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 NA NA NA NA NA NA ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT natural 411 364 0.847328106516576 0.738225561771445 0.79277683414401 3105 3699 0.790505507984695 0.798830029008743 0.794667768496719 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0 0 0 0 0.79277683414401 0.794667768496719 0 0 0 FALSE FALSE NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003245801 NA NA NA NA NA NA NA 0.999999999999921 TRUE NA ENSE00000997922_001 ENSE00000997922 001 10 61955873 61956042 - 30 99 41 G A 61955887 981 156 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCATAGCCTAAGGAGACT 60196114 60196284 60196128 60196129 60196129 downstr_intron 16 1.55172413793103 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCATAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 103 275 0.844659983628898 0.810039291789602 0.82734963770925 1459 75 0.753579049607003 0.803360436146583 0.778469742876793 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 -0.00266812288767748 0.0718137300181573 -0.0369264583776914 0.00453040713784003 0.79277683414401 0.794667768496719 0.0345728035652399 -0.0161980256199257 0.0507708291851656 FALSE FALSE 0 0.232 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 17/43 1 NA TGT G,A 8.237e-06 10:60196129 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 intron_variant 0.211651 0.20005 0.06944 0.053691 0.52352104003949 0.046323 0.999999999999921 TRUE NA ENSE00000997922_002 ENSE00000997922 002 10 61955873 61956042 - 30 99 41 T C 61955888 982 155 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCGCAGCCTAAGGAGACT 60196114 60196284 60196129 60196130 60196130 downstr_intron 15 1.51724137931034 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCGCAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 116 118 0.85 0.840607517962569 0.845303758981285 741 789 0.81232463492586 0.887470529443634 0.849897582184747 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0.00267189348342411 0.102381956191125 0.0218191269411652 0.0886405004348908 0.79277683414401 0.794667768496719 0.0525269248372744 0.055229813688028 0.00270288885075359 FALSE FALSE 0 0.015 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 17/43 1 NA GTG T,C 1.647e-05 10:60196130 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 intron_variant 0.217698 0.29882 0.03612 0.053691 0.584492273571238 0.046323 0.999999999999921 TRUE 2.44521e-05 ENSE00000997922_003 ENSE00000997922 003 10 61955873 61956042 - 30 99 41 T G 61955896 983 147 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTCTAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196137 60196138 60196138 downstr_intron 7 1.24137931034483 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTCTAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 539 233 0.831928874642764 0.847224030946583 0.839576452794674 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA 0.0414233666580693 0.0483940019378399 0.79277683414401 0.794667768496719 NA 0.0449086842979546 NA FALSE NA 0.066 -0.095 . splice_region_variant&intron_variant LOW ANK3 HGNC 494 ENST00000373827 17/43 1 NA ATA T,G 8.236e-06 10:60196138 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 splice_region_variant -0.015516 0.22229 0.08365 0.053691 0.467810706205788 0.0893591 0.999999999999921 TRUE 1.62841e-05 ENSE00000997922_004 ENSE00000997922 004 10 61955873 61956042 - 30 99 41 C T 61955908 984 135 AGTCTCCTTAGGCTGTGGAATTATAGGTACCTTTGTGGCTGCGTGAGGTGAGGCTCCTTGGTCCAAAAGCAGAAGGGCCACTTTCTGATTATCGTAATGTGCAGCTACATGCAGTGGTGTTAGCCCGCTCTGAAAACACGTGCAGAAACAACAACCAGTGTCAAAGGTGT 60196114 60196284 60196149 60196150 60196150 exon -6 0.94949494949495 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCACAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 72 216 0.85 0.784336684496726 0.817168342248363 378 390 0.80239188682289 0.811033772474067 0.806712829648478 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0.00267189348342411 0.0461111227252816 0.0118863788381954 0.0122037434653237 0.79277683414401 0.794667768496719 0.0243915081043529 0.0120450611517596 0.0123464469525933 FALSE FALSE 1 7.82 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 17/44 rs540939855 1 deleterious_low_confidence(0.03) benign(0.001) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C,T 3.295e-05 10:60196150 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 missense_variant 6.518665 0.99597 0.98663 0.638212 0.999282526903991 0 0.999999999999921 TRUE 2.84875e-05 ENSE00000997922_005 ENSE00000997922 005 10 61955873 61956042 - 30 99 41 G A 61955909 985 134 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCTGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196150 60196151 60196151 exon -7 0.939393939393939 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCTGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 79 28 0.85 0.85 0.85 2219 1087 0.797310599525108 0.888036555648567 0.842673577586838 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0.00267189348342411 0.111774438228555 0.00680509154041364 0.0892065266398243 0.79277683414401 0.794667768496719 0.0572231658559897 0.048005809090119 0.00921735676587071 FALSE FALSE 0.037 -0.531 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 17/44 rs560129439 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGG G,A 2.471e-05 10:60196151 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 synonymous_variant 1.560296 0.87225 0.07078 0.706298 0.637996406567187 0 0.999999999999921 TRUE 2.03439e-05 ENSE00000997922_006 ENSE00000997922 006 10 61955873 61956042 - 30 99 41 C T 61955911 986 132 AGTCTCCTTAGGCTGTGGAATTATAGGTACCTTTGCGGTTGCGTGAGGTGAGGCTCCTTGGTCCAAAAGCAGAAGGGCCACTTTCTGATTATCGTAATGTGCAGCTACATGCAGTGGTGTTAGCCCGCTCTGAAAACACGTGCAGAAACAACAACCAGTGTCAAAGGTGT 60196114 60196284 60196152 60196153 60196153 exon -9 0.919191919191919 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAACCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 256 223 0.887728308571704 0.82083024810863 0.854279278340167 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA 0.0972228005870088 0.0220002190998867 0.79277683414401 0.794667768496719 NA 0.0596115098434478 NA FALSE NA 1 3.451 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 17/44 COSM1638605&COSM1638606 1 tolerated_low_confidence(0.77) benign(0.004) NA GCT C,T 8.236e-06 10:60196153 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 missense_variant 2.730098 0.98509 0.91029 0.706298 0.64446162526589 0 0.999999999999921 TRUE 4.06818e-06 ENSE00000997922_008 ENSE00000997922 008 10 61955873 61956042 - 30 99 41 G A 61955915 988 128 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCATGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196156 60196157 60196157 exon -13 0.878787878787879 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCATGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 61 117 0.85 0.85 0.85 117 1883 0.974133124180236 0.797953628044317 0.886043376112277 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0.00267189348342411 0.111774438228555 0.183627616195541 -0.00087640096442565 0.79277683414401 0.794667768496719 0.0572231658559897 0.0913756076155578 0.0341524417595681 FALSE FALSE 0.048 -0.622 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 17/44 rs371084309 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0002 A:0 CGT G,A 1.647e-05 10:60196157 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 synonymous_variant 0.857952 0.96331 0.14968 0.706298 0.632531404323803 0 0.999999999999921 TRUE 1.62726e-05 ENSE00000997922_009 ENSE00000997922 009 10 61955873 61956042 - 30 99 41 G A 61955933 989 110 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGATCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196174 60196175 60196175 exon -31 0.696969696969697 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGATCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 133 200 0.85 0.85 0.85 NA NA NA NA NA 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0.00267189348342411 0.111774438228555 NA NA 0.79277683414401 0.794667768496719 0.0572231658559897 NA NA NA FALSE 1 3.294 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 17/44 rs561090388 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGT G,A 8.236e-06 10:60196175 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 synonymous_variant 0.596063 0.98332 0.91157 0.706298 0.622422287251462 0 0.999999999999921 TRUE 4.06646e-06 ENSE00000997922_011 ENSE00000997922 011 10 61955873 61956042 - 30 99 41 G C 61955959 991 84 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATGAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196200 60196201 60196201 exon 43 0.434343434343434 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATGAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 86 787 0.945117264786982 0.934338839600192 0.939728052193587 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA 0.154611756802287 0.135508810591449 0.79277683414401 0.794667768496719 NA 0.145060283696868 NA FALSE NA 1 9.873 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 17/44 1 deleterious_low_confidence(0.01) benign(0.002) NA TGA G,C 8.237e-06 10:60196201 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 missense_variant 5.755389 0.99625 0.99405 0.706298 0.992680667897152 0 0.999999999999921 TRUE 1.21958e-05 ENSE00000997922_012 ENSE00000997922 012 10 61955873 61956042 - 30 99 41 C T 61955965 992 78 AGTCTCCTTAGGCTGTGGAATTATAGGTACCTTTGCGGCTGCGTGAGGTGAGGCTCCTTGGTCCAAAAGCAGAAGGGCCACTTTCTGATTATTGTAATGTGCAGCTACATGCAGTGGTGTTAGCCCGCTCTGAAAACACGTGCAGAAACAACAACCAGTGTCAAAGGTGT 60196114 60196284 60196206 60196207 60196207 exon 37 0.373737373737374 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACAATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 67 599 0.0150726870076378 0.00053425603879252 0.00780347152321516 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA -0.775432820977057 -0.798295772969951 0.79277683414401 0.794667768496719 NA -0.786864296973504 NA TRUE NA 1 7.82 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 17/44 rs200194900&COSM3439421&COSM3439422 1 tolerated_low_confidence(0.27) benign(0.004) NA TCG C,T 1.647e-05 10:60196207 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 missense_variant 6.372198 0.9964 0.98822 0.706298 0.994263534756675 0 0.999999999999921 TRUE 1.2196e-05 ENSE00000997922_013 ENSE00000997922 013 10 61955873 61956042 - 30 99 41 T C 61955970 993 73 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACGTTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196211 60196212 60196212 exon 32 0.323232323232323 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACGTTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 525 598 0.976004870539569 0.979486946586234 0.977745908562902 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA 0.185499362554874 0.180656917577491 0.79277683414401 0.794667768496719 NA 0.183078140066183 NA FALSE NA 1 8.042 rs146760729 missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 17/44 rs146760729 1 deleterious_low_confidence(0.01) benign(0) NA C:0.0002 C:0 ATG T,C 8.237e-06 10:60196212 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 missense_variant 5.421839 0.99494 0.98718 0.706298 0.998491375128255 0 0.999999999999921 TRUE NA ENSE00000997922_014 ENSE00000997922 014 10 61955873 61956042 - 30 99 41 C T 61955974 994 69 AGTCTCCTTAGGCTGTGGAATTATAGGTACCTTTGCGGCTGCGTGAGGTGAGGCTCCTTGGTCCAAAAGCAGAAGGGCCACTTTCTGATTATCGTAATGTGTAGCTACATGCAGTGGTGTTAGCCCGCTCTGAAAACACGTGCAGAAACAACAACCAGTGTCAAAGGTGT 60196114 60196284 60196215 60196216 60196216 exon 28 0.282828282828283 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTACACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 143 1081 0.0322549486938312 0.0059377113342941 0.0190963300140627 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA -0.758250559290863 -0.792892317674449 0.79277683414401 0.794667768496719 NA -0.775571438482656 NA TRUE NA 1 3.164 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 17/44 1 deleterious_low_confidence(0.01) benign(0.023) NA GCA C,T 1.647e-05 10:60196216 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 missense_variant 4.695314 0.99087 0.95288 0.706298 0.999093030021371 0 0.999999999999921 TRUE 8.13273e-06 ENSE00000997922_015 ENSE00000997922 015 10 61955873 61956042 - 30 99 41 A G 61955981 995 62 AGTCTCCTTAGGCTGTGGAATTATAGGTACCTTTGCGGCTGCGTGAGGTGAGGCTCCTTGGTCCAAAAGCAGAAGGGCCACTTTCTGATTATCGTAATGTGCAGCTACGTGCAGTGGTGTTAGCCCGCTCTGAAAACACGTGCAGAAACAACAACCAGTGTCAAAGGTGT 60196114 60196284 60196222 60196223 60196223 exon 21 0.212121212121212 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCACGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 47 18 0.85 0.85 0.85 489 128 0.803947046861828 0.93182061663685 0.867883831749339 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0.00267189348342411 0.111774438228555 0.0134415388771334 0.132990587628107 0.79277683414401 0.794667768496719 0.0572231658559897 0.0732160632526203 0.0159928973966306 FALSE FALSE 1 4.601 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 17/44 1 NA CAT A,G 1.647e-05 10:60196223 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 synonymous_variant 0.021471 0.98846 0.96335 0.706298 0.596072153267268 0 0.999999999999921 TRUE 4.0664e-06 ENSE00000997922_016 ENSE00000997922 016 10 61955873 61956042 - 30 99 41 G T 61955995 996 48 AGTCTCCTTAGGCTGTGGAATTATAGGTACCTTTGCGGCTGCGTGAGGTGAGGCTCCTTGGTCCAAAAGCAGAAGGGCCACTTTCTGATTATCGTAATGTGCAGCTACATGCAGTGGTGTTATCCCGCTCTGAAAACACGTGCAGAAACAACAACCAGTGTCAAAGGTGT 60196114 60196284 60196236 60196237 60196237 exon 7 0.0707070707070707 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGATAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 313 84 0.950715601877648 0.88072154238946 0.915718572133554 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA 0.160210093892954 0.0818915133807167 0.79277683414401 0.794667768496719 NA 0.121050803636835 NA FALSE NA 0.994 1.958 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 17/44 1 deleterious_low_confidence(0) benign(0.001) NA AGC G,T 8.237e-06 10:60196237 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 missense_variant 5.707673 0.98135 0.92095 0.706298 0.992926904367661 0 0.999999999999921 TRUE 2.44545e-05 ENSE00000997922_017 ENSE00000997922 017 10 61955873 61956042 - 30 99 41 C T 61955996 997 47 AGTCTCCTTAGGCTGTGGAATTATAGGTACCTTTGCGGCTGCGTGAGGTGAGGCTCCTTGGTCCAAAAGCAGAAGGGCCACTTTCTGATTATCGTAATGTGCAGCTACATGCAGTGGTGTTAGTCCGCTCTGAAAACACGTGCAGAAACAACAACCAGTGTCAAAGGTGT 60196114 60196284 60196237 60196238 60196238 exon 6 0.0606060606060606 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGACTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 731 750 0.987594971814329 0.978665906109381 0.983130438961855 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA 0.197089463829635 0.179835877100638 0.79277683414401 0.794667768496719 NA 0.188462670465136 NA FALSE NA 0.195 -0.45 rs149815460 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 17/44 rs149815460 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCC C,T 8.237e-06 10:60196238 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 synonymous_variant 1.746883 0.96082 0.25016 0.706298 0.616463671572245 0 0.999999999999921 TRUE NA ENSE00000997922_018 ENSE00000997922 018 10 61955873 61956042 - 30 99 41 G A 61955999 998 44 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGTGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196240 60196241 60196241 exon 3 0.0303030303030303 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGTGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 366 50 0 0 0 1912 348 0.0138745939987653 0.137432400278527 0.075653497138646 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 -0.847328106516576 -0.738225561771445 -0.776630913985929 -0.661397628730216 0.79277683414401 0.794667768496719 -0.79277683414401 -0.719014271358073 0.0737625627859373 TRUE TRUE 1 2.785 rs144745492 splice_region_variant&synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 17/44 rs144745492&COSM3738668&COSM3738669 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0 CGC G,A 0.0001483 10:60196241 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 splice_region_variant 2.185788 0.98181 0.85961 0.706298 0.794190969815336 0 0.999999999999921 TRUE 0.000171517 ENSE00000997922_020 ENSE00000997922 020 10 61955873 61956042 - 30 99 41 T C 61956003 1000 40 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCGGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196244 60196245 60196245 upstr_intron -2 -0.024390243902439 ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCGGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant NA NA NA NA NA 232 127 0.00129570106452596 0 0.000647850532262979 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 NA NA -0.789209806920169 -0.798830029008743 0.79277683414401 0.794667768496719 NA -0.794019917964456 NA TRUE NA 1 8.042 . splice_acceptor_variant HIGH ANK3 HGNC 494 ENST00000373827 16/43 1 NA HC CTG T,C 8.237e-06 10:60196245 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 splice_acceptor_variant 5.313581 0.99486 0.98704 0.053691 0.995465696939587 0.970437 0.999999999999921 TRUE 4.08727e-06 ENSE00000997922_021 ENSE00000997922 021 10 61955873 61956042 - 30 99 41 C T 61956011 1001 32 AGTCTCCTTAGGCTGTGGAATTATAGGTACCTTTGCGGCTGCGTGAGGTGAGGCTCCTTGGTCCAAAAGCAGAAGGGCCACTTTCTGATTATCGTAATGTGCAGCTACATGCAGTGGTGTTAGCCCGCTCTGAAAACATGTGCAGAAACAACAACCAGTGTCAAAGGTGT 60196114 60196284 60196252 60196253 60196253 upstr_intron -10 -0.219512195121951 ACACCTTTGACACTGGTTGTTGTTTCTGCACATGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 97 116 0.85 0.85 0.85 NA NA NA NA NA 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0.00267189348342411 0.111774438228555 NA NA 0.79277683414401 0.794667768496719 0.0572231658559897 NA NA NA FALSE 1 0.912 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 16/43 rs200791367 1 NA T:0.0002 T:0.0002 ACG C,T 0.0001236 10:60196253 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 intron_variant 2.496266 0.98354 0.91948 0.053691 0.870466399095884 0.435657 0.999999999999921 TRUE 0.000127282 ENSE00000997922_023 ENSE00000997922 023 10 61955873 61956042 - 30 99 41 G A 61956017 1003 26 ACACCTTTGACACTGGTTGTTGTTTTTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 60196258 60196259 60196259 upstr_intron -16 -0.365853658536585 ACACCTTTGACACTGGTTGTTGTTTTTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT mutant 58 61 0.85 0.85 0.85 768 791 0.950185348076691 0.926107683710765 0.938146515893728 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 0.00267189348342411 0.111774438228555 0.159679840091996 0.127277654702021 0.79277683414401 0.794667768496719 0.0572231658559897 0.143478747397009 0.0862555815410193 FALSE FALSE 1 2.051 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 16/43 1 NA AGA G,A 1.647e-05 10:60196259 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003245801 intron_variant 2.407622 0.98761 0.89474 0.053691 0.848272674056992 0.837942 0.999999999999921 TRUE 2.88719e-05 ENSE00000997922_BRK ENSE00000997922 BRK 10 61955873 61956042 - 30 99 41 A,G; T,T NA NA NA ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCTTAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGCCACCTATAATTCCACAGCCTAAGGAGACT 60196114 60196284 NA NA NA NA NA NA ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCTTAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGCCACCTATAATTCCACAGCCTAAGGAGACT ACACCTTTGACACTGGTTGTTGTTTCTGCACGTGTTTTCAGAGCGGGCTAACACCACTGCATGTAGCTGCACATTACGATAATCAGAAAGTGGCCCTTCTGCTTTTGGACCAAGGAGCCTCACCTCACGCAGCCGCAAAGGTACCTATAATTCCACAGCCTAAGGAGACT control 76 62 0 0 0 484 394 0 0.00919613093376222 0.00459806546688111 0.847328106516576 0.738225561771445 0.790505507984695 0.798830029008743 -0.847328106516576 -0.738225561771445 -0.790505507984695 -0.789633898074981 0.79277683414401 0.794667768496719 -0.79277683414401 -0.790069703029838 0.00270713111417242 TRUE TRUE NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003245801 NA NA NA NA NA NA NA 0.999999999999921 TRUE NA ENSE00000997925_000 ENSE00000997925 000 10 61941057 61941226 - 30 99 41 NA NA NA NA NA TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 NA NA NA NA NA NA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA natural 81 72 0.998466280185673 0.995840853518196 0.997153566851934 957 3575 0.99447980998013 0.931931381612859 0.963205595796495 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 0 0 0 0 0.997153566851934 0.963205595796495 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003406141 NA NA NA NA NA NA NA 0.999999999999921 TRUE NA ENSE00000997925_001 ENSE00000997925 001 10 61941057 61941226 - 30 99 41 G C 61941067 949 160 TTTTCCGTGTCGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181308 60181309 60181309 downstr_intron 20 1.68965517241379 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCGACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant 16 10 1 1 1 310 173 1 1 1 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 0.00153371981432737 0.00415914648180449 0.00552019001986981 0.0680686183871411 0.997153566851934 0.963205595796495 0.00284643314806593 0.0367944042035054 0.0339479710554395 FALSE FALSE 0.001 0.586 NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:60181309 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 intron_variant -0.419107 0.30304 0.1319 0.053691 0.287051249752125 0.0455939 0.999999999999921 TRUE 3.66282e-05 ENSE00000997925_004 ENSE00000997925 004 10 61941057 61941226 - 30 99 41 C T 61941069 952 158 TTTTCCGTGTGGTAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181310 60181311 60181311 downstr_intron 18 1.62068965517241 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTACCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 103 40 0.978487941472213 0.949398640606547 0.96394329103938 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA -0.0159918685079176 0.0174672589936876 0.997153566851934 0.963205595796495 NA 0.000737695242885028 NA FALSE NA 0 -2.215 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 19/43 1 NA GCA C,T 8.236e-06 10:60181311 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 intron_variant -0.296214 0.17692 0.01279 0.053691 0.426585878625113 0.0455939 0.999999999999921 TRUE 4.0699e-06 ENSE00000997925_006 ENSE00000997925 006 10 61941057 61941226 - 30 99 41 G A 61941072 954 155 TTTTCCGTGTGGCAAAGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181313 60181314 60181314 downstr_intron 15 1.51724137931034 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCTTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 138 1571 1 0.998137416632414 0.999068708316207 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 0.0662060350195554 0.997153566851934 0.963205595796495 NA 0.0358631125197126 NA FALSE NA 0 -0.821 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 19/43 1 NA AGG G,A 8.236e-06 10:60181314 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 intron_variant -0.126671 0.21889 0.01064 0.053691 0.487496627091359 0.0455939 0.999999999999921 TRUE 4.06762e-06 ENSE00000997925_009 ENSE00000997925 009 10 61941057 61941226 - 30 99 41 G T 61941081 957 146 TTTTCCGTGTGGCAAGGGAGGGCCTTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181322 60181323 60181323 downstr_intron 6 1.20689655172414 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATAAGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 60 593 1 0.999871543564612 0.999935771782306 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 0.0679401619517532 0.997153566851934 0.963205595796495 NA 0.0367301759858115 NA FALSE NA 0 -0.403 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:60181323 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 splice_region_variant 0.024276 0.23073 0.01834 0.053691 0.295295206810762 0.0839839 0.999999999999921 TRUE 1.62517e-05 ENSE00000997925_010 ENSE00000997925 010 10 61941057 61941226 - 30 99 41 G A 61941081 958 146 TTTTCCGTGTGGCAAGGGAGGGCCATATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181322 60181323 60181323 downstr_intron 6 1.20689655172414 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATATGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 76 93 1 0.986146204229842 0.993073102114921 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 0.0542148226169831 0.997153566851934 0.963205595796495 NA 0.0298675063184264 NA FALSE NA 0 -0.403 NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003406141 splice_region_variant 0.11228 0.22629 0.01723 0.053691 0.284607569143502 0.0839839 0.999999999999921 TRUE 8.12585e-06 ENSE00000997925_011 ENSE00000997925 011 10 61941057 61941226 - 30 99 41 T A 61941088 959 139 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCATTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181329 60181330 60181330 exon -2 0.98989898989899 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAATGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 197 21 1 0.992393178775936 0.996196589387968 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 0.0604617971630769 0.997153566851934 0.963205595796495 NA 0.0329909935914733 NA FALSE NA 1 6.282 rs138539461 missense_variant&splice_region_variant MODERATE ANK3 HGNC 494 ENST00000373827 19/44 rs138539461 1 deleterious_low_confidence(0) benign(0.032) NA A:0 A:0.0001 CTT T,A 1.647e-05 10:60181330 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 missense_variant 5.577786 0.99276 0.98082 0.615465 0.99524867157724 0 0.999999999999921 TRUE 1.21869e-05 ENSE00000997925_012 ENSE00000997925 012 10 61941057 61941226 - 30 99 41 T C 61941090 960 137 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTCGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181331 60181332 60181332 exon -4 0.96969696969697 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACGAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 11 448 1 0.998962490006208 0.999481245003104 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 0.0670311083933492 0.997153566851934 0.963205595796495 NA 0.0362756492066095 NA FALSE NA 0.03 -0.966 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 19/44 1 NA TTG T,C 8.236e-06 10:60181332 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 synonymous_variant -0.487825 0.97306 0.27517 0.615465 0.415271734051449 0 0.999999999999921 TRUE 4.06184e-06 ENSE00000997925_013 ENSE00000997925 013 10 61941057 61941226 - 30 99 41 C T 61941093 961 134 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTTTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181334 60181335 60181335 exon -7 0.939393939393939 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAAACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 219 90 1 0.903343702938666 0.951671851469333 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 -0.0285876786741933 0.997153566851934 0.963205595796495 NA -0.0115337443271618 NA FALSE NA 0.924 0.582 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 19/44 1 NA TCT C,T 8.236e-06 10:60181335 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 synonymous_variant 1.119837 0.98154 0.81825 0.615465 0.486051537091832 0 0.999999999999921 TRUE 4.0621e-06 ENSE00000997925_014 ENSE00000997925 014 10 61941057 61941226 - 30 99 41 C T 61941098 962 129 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGTGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181339 60181340 60181340 exon -12 0.888888888888889 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACACCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 232 1185 0.997670907223518 0.999834360800067 0.998752634011792 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00319109724338795 0.0679029791872077 0.997153566851934 0.963205595796495 NA 0.0355470382152978 NA FALSE NA 0.992 2.487 rs144051466 missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 19/44 rs144051466&COSM1348462&COSM1348463 1 deleterious_low_confidence(0.03) benign(0.059) NA T:0 T:0.0005 GCG C,T 0.0002141 10:60181340 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 missense_variant 3.875432 0.99094 0.92749 0.706298 0.99883860627525 0 0.999999999999921 TRUE 0.000255896 ENSE00000997925_015 ENSE00000997925 015 10 61941057 61941226 - 30 99 41 G A 61941099 963 128 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCATCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181340 60181341 60181341 exon -13 0.878787878787879 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGATGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant 14 13 1 1 1 16 221 0.997399160656879 0.972026484694123 0.984712822675501 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 0.00153371981432737 0.00415914648180449 0.00291935067674864 0.0400951030812636 0.997153566851934 0.963205595796495 0.00284643314806593 0.0215072268790061 0.0186607937309402 FALSE FALSE 0.66 0.094 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 19/44 COSM2148800&COSM2148801 1 NA CGT G,A 9.06e-05 10:60181341 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 synonymous_variant 0.563491 0.97 0.44689 0.706298 0.523643664290759 0 0.999999999999921 TRUE 0.000101543 ENSE00000997925_016 ENSE00000997925 016 10 61941057 61941226 - 30 99 41 A G 61941105 964 122 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACGTGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181346 60181347 60181347 exon -19 0.818181818181818 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCACGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 57 197 1 0.999806584519462 0.999903292259731 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 0.0678752029066033 0.997153566851934 0.963205595796495 NA 0.0366976964632366 NA FALSE NA 0 -0.965 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 19/44 1 NA CAT A,G 8.236e-06 10:60181347 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 synonymous_variant -0.688286 0.2276 0.05021 0.706298 0.354558413110839 0 0.999999999999921 TRUE 4.06141e-06 ENSE00000997925_018 ENSE00000997925 018 10 61941057 61941226 - 30 99 41 C T 61941112 966 115 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCTCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181353 60181354 60181354 exon -26 0.747474747474748 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGAGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 40 156 1 0.989327949700347 0.994663974850174 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 0.0573965680874881 0.997153566851934 0.963205595796495 NA 0.0314583790536789 NA FALSE NA 0.999 4.925 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 19/44 1 deleterious_low_confidence(0.01) benign(0.03) NA CCC C,T 1.647e-05 10:60181354 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 missense_variant 7.075207 0.99689 0.97943 0.706298 0.998331453188558 0 0.999999999999921 TRUE 3.65521e-05 ENSE00000997925_021 ENSE00000997925 021 10 61941057 61941226 - 30 99 41 G A 61941123 969 104 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACAAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181364 60181365 60181365 exon -37 0.636363636363636 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTTGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 110 100 0.996968020857416 1 0.998484010428708 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00248821087728568 0.0680686183871411 0.997153566851934 0.963205595796495 NA 0.0352784146322134 NA FALSE NA 0 -5.281 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 19/44 1 NA CGA G,A 8.236e-06 10:60181365 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 synonymous_variant 0.658847 0.05069 0.0114 0.706298 0.733968903818998 0 0.999999999999921 TRUE 4.06161e-06 ENSE00000997925_025 ENSE00000997925 025 10 61941057 61941226 - 30 99 41 G A 61941168 973 59 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGAAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181409 60181410 60181410 exon 18 0.181818181818182 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTTCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 137 749 1 0.993182242333427 0.996591121166713 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00552019001986981 0.061250860720568 0.997153566851934 0.963205595796495 NA 0.0333855253702189 NA FALSE NA 0 -1.798 NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:60181410 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 synonymous_variant 0.777801 0.97732 0.25827 0.706298 0.785495820010335 0 0.999999999999921 TRUE 0.00303862 ENSE00000997925_029 ENSE00000997925 029 10 61941057 61941226 - 30 99 41 A C 61941192 977 35 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAACAGATTCAAAGGGCACAGTCATCGTACAGGAAGGA 60181298 60181468 60181433 60181434 60181434 upstr_intron -7 -0.146341463414634 TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTGTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 464 50 0.995893158395327 1 0.997946579197664 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA 0.00141334841519691 0.0680686183871411 0.997153566851934 0.963205595796495 NA 0.034740983401169 NA FALSE NA 0.977 3.352 . splice_region_variant&intron_variant LOW ANK3 HGNC 494 ENST00000373827 18/43 1 NA AAA A,C 1.647e-05 10:60181434 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 splice_region_variant 1.30333 0.97047 0.94052 0.053691 0.929599063418722 0.405191 0.999999999999921 TRUE 8.13107e-06 ENSE00000997925_030 ENSE00000997925 030 10 61941057 61941226 - 30 99 41 A T 61941208 978 19 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACTGTCATCGTACAGGAAGGA 60181298 60181468 60181449 60181450 60181450 upstr_intron -23 -0.536585365853659 TCCTTCCTGTACGATGACAGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 29 618 0.971305302275973 0.914554180902527 0.94292974158925 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA -0.0231745077041572 -0.0173772007103319 0.997153566851934 0.963205595796495 NA -0.0202758542072445 NA FALSE NA 0.141 1.156 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 18/43 1 NA CAG A,T 8.237e-06 10:60181450 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 intron_variant 0.594656 0.28983 0.07041 0.053691 0.808254031515238 0.0773645 0.999999999999921 TRUE 8.13517e-06 ENSE00000997925_032 ENSE00000997925 032 10 61941057 61941226 - 30 99 41 G A 61941215 980 12 TTTTCCGTGTGGCAAGGGAGGGCCGTATACCTTTGTCTGGGCGTCCACATGAGCCCCTTGGTTTACGAGGACTTCTGCCACATTCACTCGATCTTCTTGAGCAGCCAAATGGAGTGGGGTCAGGCCGCTCTGCAAAAGATTCAAAGGGCACAGTCATCATACAGGAAGGA 60181298 60181468 60181456 60181457 60181457 upstr_intron -30 -0.707317073170732 TCCTTCCTGTATGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA TCCTTCCTGTACGATGACTGTGCCCTTTGAATCTTTTGCAGAGCGGCCTGACCCCACTCCATTTGGCTGCTCAAGAAGATCGAGTGAATGTGGCAGAAGTCCTCGTAAACCAAGGGGCTCATGTGGACGCCCAGACAAAGGTATACGGCCCTCCCTTGCCACACGGAAAA mutant NA NA NA NA NA 132 48 0.975921930609315 0.996690749731264 0.986306340170289 0.998466280185673 0.995840853518196 0.99447980998013 0.931931381612859 NA NA -0.0185578793708154 0.0647593681184052 0.997153566851934 0.963205595796495 NA 0.0231007443737949 NA FALSE NA 0 -0.05 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 18/43 1 NA CGT G,A 6.589e-05 10:60181457 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003406141 intron_variant -0.09627 0.22456 0.02508 0.053691 0.80982009582636 0.085249 0.999999999999921 TRUE 9.3762e-05 ENSE00000997935_000 ENSE00000997935 000 10 61956255 61956424 - 30 99 41 NA NA NA NA NA CATTTCTATTGTTCATTATTTTTATGTTTTTTTTTTTTCAGAAAGGATTTACTCCTCTTCATGTGGCAGCAAAATATGGAAAGCTTGAAGTCGCCAATCTCCTGCTACAGAAAAGTGCATCTCCAGATGCTGCTGGGAAGGTAAGAGGTCACCAGCCACCCTGAAGCAGG 60196496 60196666 NA NA NA NA NA NA CATTTCTATTGTTCATTATTTTTATGTTTTTTTTTTTTCAGAAAGGATTTACTCCTCTTCATGTGGCAGCAAAATATGGAAAGCTTGAAGTCGCCAATCTCCTGCTACAGAAAAGTGCATCTCCAGATGCTGCTGGGAAGGTAAGAGGTCACCAGCCACCCTGAAGCAGG CATTTCTATTGTTCATTATTTTTATGTTTTTTTTTTTTCAGAAAGGATTTACTCCTCTTCATGTGGCAGCAAAATATGGAAAGCTTGAAGTCGCCAATCTCCTGCTACAGAAAAGTGCATCTCCAGATGCTGCTGGGAAGGTAAGAGGTCACCAGCCACCCTGAAGCAGG natural NA NA NA NA NA 641 409 0.951097999313481 0.921912252891506 0.936505126102493 NA NA 0.951097999313481 0.921912252891506 NA NA 0 0 NA 0.936505126102493 NA 0 NA FALSE NA NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003383580 NA NA NA NA NA NA NA 0.999999999999921 TRUE NA ENSE00000997935_015 ENSE00000997935 015 10 61956255 61956424 - 30 99 41 A G 61956393 1018 32 CATTTCTATTGTTCATTATTTTTATGTTTTTCTTTTTTCAGAAAGGATTTACTCCTCTTCATGTGGCAGCAAAATATGGAAAGCTTGAAGTCGCCAATCTCCTGCTACAGAAAAGTGCATCTCCAGATGCTGCTGGGAAGGTAAGAGGTCACCAGCCACCCTGAAGCAGG 60196496 60196666 60196634 60196635 60196635 upstr_intron -10 -0.219512195121951 CATTTCTATTGTTCATTATTTTTATGTTTTTCTTTTTTCAGAAAGGATTTACTCCTCTTCATGTGGCAGCAAAATATGGAAAGCTTGAAGTCGCCAATCTCCTGCTACAGAAAAGTGCATCTCCAGATGCTGCTGGGAAGGTAAGAGGTCACCAGCCACCCTGAAGCAGG CATTTCTATTGTTCATTATTTTTATGTTTTTTTTTTTTCAGAAAGGATTTACTCCTCTTCATGTGGCAGCAAAATATGGAAAGCTTGAAGTCGCCAATCTCCTGCTACAGAAAAGTGCATCTCCAGATGCTGCTGGGAAGGTAAGAGGTCACCAGCCACCCTGAAGCAGG mutant 20 19 1 1 1 NA NA NA NA NA NA NA 0.951097999313481 0.921912252891506 NA NA NA NA NA 0.936505126102493 NA NA NA NA NA 0 0.79 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 15/43 rs373303534 1 NA G:0.0002 G:0 AAA A,G 8.241e-06 10:60196635 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003383580 intron_variant -0.226881 0.23697 0.17386 0.053691 0.589936750871092 0.0436289 0.999999999999921 TRUE NA ENSE00000997938_000 ENSE00000997938 000 10 61932816 61932985 - 30 99 41 NA NA NA NA NA GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG 60173057 60173227 NA NA NA NA NA NA GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG natural NA NA NA NA NA 335 618 0.972441852969042 0.972229809109137 0.97233583103909 NA NA 0.972441852969042 0.972229809109137 NA NA 0 0 NA 0.97233583103909 NA 0 NA FALSE NA NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003393611 NA NA NA NA NA NA NA 0.999999999999921 TRUE NA ENSE00000997938_001 ENSE00000997938 001 10 61932816 61932985 - 30 99 41 A C 61932835 941 151 GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTGCCTTTTTTGTTTCTGCCAG 60173057 60173227 60173076 60173077 60173077 downstr_intron 11 1.37931034482759 GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTGCCTTTTTTGTTTCTGCCAG GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG mutant NA NA NA NA NA 88 963 0.977038683044521 0.8 0.888519341522261 NA NA 0.972441852969042 0.972229809109137 NA NA 0.00459683007547895 -0.172229809109137 NA 0.97233583103909 NA -0.0838164895168291 NA FALSE NA 0 0.698 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 20/43 1 NA GAA A,C 8.237e-06 10:60173077 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003393611 intron_variant -0.333043 0.29154 0.14345 0.053691 0.429207549980053 0.0809297 0.999999999999921 TRUE 4.09159e-06 ENSE00000997938_004 ENSE00000997938 004 10 61932816 61932985 - 30 99 41 A G 61932901 944 85 GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATACCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG 60173057 60173227 60173142 60173143 60173143 exon 44 0.444444444444444 GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATACCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG mutant NA NA NA NA NA 87 513 1 0.999691586527325 0.999845793263662 NA NA 0.972441852969042 0.972229809109137 NA NA 0.0275581470309576 0.0274617774181878 NA 0.97233583103909 NA 0.0275099622245727 NA FALSE NA 1 5.095 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 20/44 1 tolerated_low_confidence(0.09) benign(0.004) NA GAT A,G 8.236e-06 10:60173143 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003393611 missense_variant 5.369948 0.98728 0.91023 0.638212 0.9982325705461 0 0.999999999999921 TRUE 8.13365e-06 ENSE00000997938_005 ENSE00000997938 005 10 61932816 61932985 - 30 99 41 T C 61932910 945 76 GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTGTGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG 60173057 60173227 60173151 60173152 60173152 exon 35 0.353535353535354 GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTGTGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG GTAATTATGATGCTTCTTTTTTAAAAAAATAATAATTACAGATGGGATACACACCACTGCATGTGGGCTGCCACTATGGAAATATCAAGATTGTTAATTTCCTGCTCCAGCATTCTGCAAAAGTTAATGCCAAAACAAAGGTAAGCTCCTTCCTTTTTTGTTTCTGCCAG mutant NA NA NA NA NA 66 49 1 1 1 NA NA 0.972441852969042 0.972229809109137 NA NA 0.0275581470309576 0.0277701908908629 NA 0.97233583103909 NA 0.0276641689609102 NA FALSE NA 1 7.987 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 20/44 1 deleterious_low_confidence(0) benign(0.016) NA ATA T,C 1.647e-05 10:60173152 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003393611 missense_variant 5.877146 0.99448 0.98533 0.638212 0.998470424950409 0 0.999999999999921 TRUE 1.22043e-05 ENSE00000999243_000 ENSE00000999243 000 11 86153833 86154002 - 30 99 41 NA NA NA NA NA GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 NA NA NA NA NA NA GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG natural 1428 2302 0.809424975761854 0.80808371178858 0.808754343775217 6331 3208 0.785101552060284 0.749624080997823 0.767362816529053 0.809424975761854 0.80808371178858 0.785101552060284 0.749624080997823 0 0 0 0 0.808754343775217 0.767362816529053 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00000999243 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00000999243_013 ENSE00000999243 013 11 86153833 86154002 - 30 99 41 C A 86153920 2278 83 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGTAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442877 86442878 86442878 exon 42 0.424242424242424 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGTAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 112 256 0.0117114246365975 0 0.00585571231829875 349 311 0.00697196060699137 0.0158793672838109 0.0114256639454012 0.809424975761854 0.80808371178858 0.785101552060284 0.749624080997823 -0.797713551125257 -0.80808371178858 -0.778129591453293 -0.733744713714012 0.808754343775217 0.767362816529053 -0.802898631456918 -0.755937152583652 0.0469614788732663 TRUE TRUE 0.999 0.724 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00000999243 synonymous_variant 2.035854 0.9219 0.62981 0.643511 0.79941880179255 0 0.994933031618259 TRUE 4.06537e-06 ENSE00000999243_029 ENSE00000999243 029 11 86153833 86154002 - 30 99 41 C T 86153980 2294 23 GAGACTCAGCTTATTCCTCTCGATTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442937 86442938 86442938 upstr_intron -19 -0.439024390243902 GAGACTCAGCTTATTCCTCTCGATTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 558 541 0.837123517748638 0.847947193508348 0.842535355628493 1073 1615 0.797681729872802 0.812429958241499 0.805055844057151 0.809424975761854 0.80808371178858 0.785101552060284 0.749624080997823 0.0276985419867833 0.0398634817197677 0.0125801778125184 0.0628058772436764 0.808754343775217 0.767362816529053 0.0337810118532755 0.0376930275280974 0.00391201567482186 FALSE FALSE 0.001 -0.183 NA NA NA ME3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ME3 NA NA NA ENSG00000151376 ENSE00000999243 intron_variant 1.069004 0.2379 0.02798 0.074388 0.732106420941517 0.163673 1.1418824476976e-05 FALSE 4.09977e-06 ENSE00000999243_BRK ENSE00000999243 BRK 11 86153833 86154002 - 30 99 41 A,G; T,T NA NA NA GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCTTCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAACCAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 NA NA NA NA NA NA GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCTTCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAACCAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG control 199 155 0.0262049723423096 0.0909891326797909 0.0585970525110503 737 387 0.00784503292577001 0.11440852289549 0.0611267779106299 0.809424975761854 0.80808371178858 0.785101552060284 0.749624080997823 -0.783220003419545 -0.717094579108789 -0.777256519134514 -0.635215558102333 0.808754343775217 0.767362816529053 -0.750157291264167 -0.706236038618423 0.0439212526457436 TRUE TRUE NA NA NA NA NA ME3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ME3 NA NA NA ENSG00000151376 ENSE00000999243 NA NA NA NA NA NA NA 1.1418824476976e-05 FALSE NA ENSE00000999521_000 ENSE00000999521 000 14 76455184 76455353 + 44 93 33 NA NA NA NA NA TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 NA NA NA NA NA NA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA natural 60 65 0.967209568313682 0.997269789673564 0.982239678993623 4323 2820 0.86775051314229 0.950267287864305 0.909008900503298 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 0 0 0 0 0.982239678993623 0.909008900503298 0 0 0 FALSE FALSE NA NA NA NA NA IFT43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT43 NA NA NA ENSG00000119650 ENSE00003652495 NA NA NA NA NA NA NA 4.37841580307519e-07 FALSE NA ENSE00000999521_001 ENSE00000999521 001 14 76455184 76455353 + 44 93 33 G A 76455197 1124 14 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACTCAAATGTCATTTG 75988840 75989010 75988853 75988854 75988854 upstr_intron -31 -0.681818181818182 CAAATGACATTTGAGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 5561 532 0.999292410312724 0.997219756824807 0.998256083568766 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.131541897170434 0.0469524689605024 0.982239678993623 0.909008900503298 NA 0.0892471830654682 NA FALSE NA 0.119 -0.044 . intron_variant&NMD_transcript_variant MODIFIER IFT43 HGNC 29669 ENST00000542766 1/9 1 NA GGG G,A 8.236e-06 14:75988854 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 intron_variant 0.474324 0.26757 0.09721 0.262962 0.836746516150841 0.0916106 4.37841580307519e-07 FALSE NA ENSE00000999521_003 ENSE00000999521 003 14 76455184 76455353 + 44 93 33 G A 76455202 1126 19 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGTTGACCCAAATGTCATTTG 75988840 75989010 75988858 75988859 75988859 upstr_intron -26 -0.568181818181818 CAAATGACATTTGGGTCAACAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 581 1245 1 0.999109746989803 0.999554873494901 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.13224948685771 0.0488424591254981 0.982239678993623 0.909008900503298 NA 0.0905459729916039 NA FALSE NA 0.647 0.259 . intron_variant&NMD_transcript_variant MODIFIER IFT43 HGNC 29669 ENST00000542766 1/9 rs371899357 1 NA A:0.0002 A:0 AGC G,A 9.06e-05 14:75988859 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 intron_variant 0.792248 0.55621 0.22058 0.262962 0.897327928812118 0.0914999 4.37841580307519e-07 FALSE 7.73005e-05 ENSE00000999521_004 ENSE00000999521 004 14 76455184 76455353 + 44 93 33 C T 76455203 1127 20 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTACTGACCCAAATGTCATTTG 75988840 75989010 75988859 75988860 75988860 upstr_intron -25 -0.545454545454545 CAAATGACATTTGGGTCAGTAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 644 72 0.995005593211211 1 0.997502796605605 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.127255080068921 0.0497327121356954 0.982239678993623 0.909008900503298 NA 0.088493896102308 NA FALSE NA 0.606 0.491 . intron_variant&NMD_transcript_variant MODIFIER IFT43 HGNC 29669 ENST00000542766 1/9 1 NA GCA C,T 8.236e-06 14:75988860 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 intron_variant 0.974 0.62156 0.25904 0.262962 0.885034690249137 0.606935 4.37841580307519e-07 FALSE 4.06805e-06 ENSE00000999521_005 ENSE00000999521 005 14 76455184 76455353 + 44 93 33 C T 76455208 1128 25 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGACACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988864 75988865 75988865 upstr_intron -20 -0.431818181818182 CAAATGACATTTGGGTCAGCAGTGTCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant 13 26 1 0.995970197892558 0.997985098946279 489 769 0.995991054935454 0.995466899929169 0.995728977432312 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 0.0327904316863177 -0.00129959178100625 0.128240541793164 0.0451996120648649 0.982239678993623 0.909008900503298 0.0157454199526557 0.0867200769290145 0.0709746569763587 FALSE FALSE 0.001 0.099 . intron_variant&NMD_transcript_variant MODIFIER IFT43 HGNC 29669 ENST00000542766 1/9 1 NA GCC C,T 1.647e-05 14:75988865 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 intron_variant 0.322996 0.19832 0.02069 0.262962 0.599349521773916 0.138976 4.37841580307519e-07 FALSE 8.13412e-06 ENSE00000999521_006 ENSE00000999521 006 14 76455184 76455353 + 44 93 33 T C 76455211 1129 28 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGGAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988867 75988868 75988868 upstr_intron -17 -0.363636363636364 CAAATGACATTTGGGTCAGCAGTGCCTCCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 142 900 0.99014167255342 0.999107034521278 0.994624353537349 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.12239115941113 0.0488397466569731 0.982239678993623 0.909008900503298 NA 0.0856154530340513 NA FALSE NA 0 0.312 . intron_variant&NMD_transcript_variant MODIFIER IFT43 HGNC 29669 ENST00000542766 1/9 rs200685248 1 C:0.0098 C:0 C:0 NA C:0 C:0 C:0.0501 TTC T,C 0.005288 14:75988868 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 intron_variant 0.148708 0.22813 0.0722 0.262962 0.523287161724097 0.144704 4.37841580307519e-07 FALSE 0.00480617 ENSE00000999521_008 ENSE00000999521 008 14 76455184 76455353 + 44 93 33 G A 76455214 1131 31 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAATAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988870 75988871 75988871 upstr_intron -14 -0.295454545454545 CAAATGACATTTGGGTCAGCAGTGCCTTCTATTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 754 2061 0.996128461295652 0.847034016068315 0.921581238681983 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.128377948153361 -0.10323327179599 0.982239678993623 0.909008900503298 NA 0.0125723381786859 NA FALSE NA 0 -1.559 . intron_variant&NMD_transcript_variant MODIFIER IFT43 HGNC 29669 ENST00000542766 1/9 1 NA TGT G,A 1.647e-05 14:75988871 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 intron_variant -0.199026 0.11641 0.02023 0.262962 0.521092291555754 0.0914999 4.37841580307519e-07 FALSE 8.13173e-06 ENSE00000999521_010 ENSE00000999521 010 14 76455184 76455353 + 44 93 33 A G 76455224 1133 41 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGCAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988880 75988881 75988881 upstr_intron -4 -0.0681818181818182 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTGCAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 1193 439 0.972501320413831 0.983101825403624 0.977801572908727 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.104750807271541 0.0328345375393196 0.982239678993623 0.909008900503298 NA 0.0687926724054301 NA FALSE NA 0.002 -0.418 rs191885276 splice_region_variant&intron_variant&NMD_transcript_variant LOW IFT43 HGNC 29669 ENST00000542766 1/9 rs191885276 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TAC A,G 8.236e-06 14:75988881 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 splice_region_variant -0.15854 0.2072 0.09557 0.262962 0.458526184481345 0.194143 4.37841580307519e-07 FALSE 1.62574e-05 ENSE00000999521_011 ENSE00000999521 011 14 76455184 76455353 + 44 93 33 A G 76455234 1134 51 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTCGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988890 75988891 75988891 exon 7 0.0752688172043011 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCGAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 1179 597 0.992700583832273 0.998317264898656 0.995508924365464 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.124950070689983 0.0480499770343514 0.982239678993623 0.909008900503298 NA 0.086500023862167 NA FALSE NA 1 5.704 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:75988891 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 5.330724 0.95534 0.95066 0.706298 0.998057895312601 0 4.37841580307519e-07 FALSE 8.12678e-06 ENSE00000999521_012 ENSE00000999521 012 14 76455184 76455353 + 44 93 33 A C 76455234 1135 51 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTGGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988890 75988891 75988891 exon 7 0.0752688172043011 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCCAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 1012 450 0.918671616176996 0.979422069252664 0.94904684271483 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.0509211030347054 0.0291547813883595 0.982239678993623 0.909008900503298 NA 0.0400379422115325 NA FALSE NA 1 5.704 NA NA NA IFT43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT43 NA NA NA ENSG00000119650 ENSE00003652495 missense_variant 3.674058 0.95689 0.95474 0.706298 0.991203849326728 0 4.37841580307519e-07 FALSE 4.06339e-06 ENSE00000999521_013 ENSE00000999521 013 14 76455184 76455353 + 44 93 33 A G 76455237 1136 54 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCACCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988893 75988894 75988894 exon 10 0.10752688172043 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGGTGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant 14 11 1 0.83453513458193 0.917267567290965 402 730 0.998350443211512 0.991189245507885 0.994769844359699 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 0.0327904316863177 -0.162734655091634 0.130599930069222 0.0409219576435806 0.982239678993623 0.909008900503298 -0.0649721117026582 0.0857609438564013 0.15073305555906 FALSE FALSE 1 2.155 . missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 1 tolerated(0.07) benign(0.19) NA GAT A,G 8.236e-06 14:75988894 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant -0.330759 0.89023 0.74472 0.706298 0.553595870389395 0 4.37841580307519e-07 FALSE 4.06332e-06 ENSE00000999521_014 ENSE00000999521 014 14 76455184 76455353 + 44 93 33 G A 76455244 1137 61 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGTGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988900 75988901 75988901 exon 17 0.182795698924731 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCACCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 698 35 0.993736523466958 0.99200797463724 0.992872249052099 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.125986010324668 0.0417406867729357 0.982239678993623 0.909008900503298 NA 0.0838633485488019 NA FALSE NA 1 6.058 . missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 1 deleterious(0) probably_damaging(1) NA CGC G,A 8.236e-06 14:75988901 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 6.40057 0.9374 0.93963 0.706298 0.999371997963724 0 4.37841580307519e-07 FALSE 1.21906e-05 ENSE00000999521_015 ENSE00000999521 015 14 76455184 76455353 + 44 93 33 C T 76455246 1138 63 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCAGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988902 75988903 75988903 exon 19 0.204301075268817 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCTGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 43 118 1 0.976507260784303 0.988253630392151 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.13224948685771 0.0262399729199982 0.982239678993623 0.909008900503298 NA 0.0792447298888539 NA FALSE NA 1 2.264 . stop_gained&NMD_transcript_variant HIGH IFT43 HGNC 29669 ENST00000542766 2/10 1 NA CCG C,T 2.471e-05 14:75988903 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 stop_gained 12.644565 0.93593 0.86052 0.706298 0.997577266416341 0 4.37841580307519e-07 FALSE 2.0316e-05 ENSE00000999521_016 ENSE00000999521 016 14 76455184 76455353 + 44 93 33 G A 76455247 1139 64 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTTGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988903 75988904 75988904 exon 20 0.21505376344086 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCAAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 651 324 0.992620816915939 1 0.99631040845797 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.124870303773649 0.0497327121356954 0.982239678993623 0.909008900503298 NA 0.0873015079546722 NA FALSE NA 1 6.058 . missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 1 deleterious(0) probably_damaging(1) NA CGA G,A 8.236e-06 14:75988904 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 5.846493 0.9606 0.95243 0.706298 0.999191456731703 0 4.37841580307519e-07 FALSE 4.06329e-06 ENSE00000999521_017 ENSE00000999521 017 14 76455184 76455353 + 44 93 33 C T 76455265 1140 82 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCACTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988921 75988922 75988922 exon 38 0.408602150537634 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGTGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 218 788 0.985067654453797 0.991420386409928 0.988244020431862 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.117317141311507 0.0411530985456231 0.982239678993623 0.909008900503298 NA 0.0792351199285649 NA FALSE NA 0 0.406 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:75988922 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 0.138262 0.21921 0.05771 0.706298 0.327188427925014 0 4.37841580307519e-07 FALSE 6.50042e-05 ENSE00000999521_018 ENSE00000999521 018 14 76455184 76455353 + 44 93 33 C A 76455265 1141 82 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCTCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988921 75988922 75988922 exon 38 0.408602150537634 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGAGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 205 924 0.923336596255849 0.999958802500205 0.961647699378027 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.0555860831135591 0.0496915146359004 0.982239678993623 0.909008900503298 NA 0.0526387988747297 NA FALSE NA 0 0.406 NA NA NA IFT43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT43 NA NA NA ENSG00000119650 ENSE00003652495 missense_variant 1.188758 0.25126 0.20633 0.706298 0.249205251331475 0 4.37841580307519e-07 FALSE 4.06276e-06 ENSE00000999521_020 ENSE00000999521 020 14 76455184 76455353 + 44 93 33 C A 76455267 1143 84 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTTCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988923 75988924 75988924 exon 40 0.43010752688172 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGAAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 1912 779 0.826417009724249 0.999796926739571 0.91310696823191 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA -0.0413335034180411 0.0495296388752664 0.982239678993623 0.909008900503298 NA 0.00409806772861265 NA FALSE NA 0.027 1.615 . missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 1 tolerated(0.16) benign(0.228) NA GCA C,A 8.236e-06 14:75988924 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant -0.305597 0.33138 0.29066 0.706298 0.333481967447204 0 4.37841580307519e-07 FALSE 4.06263e-06 ENSE00000999521_021 ENSE00000999521 021 14 76455184 76455353 + 44 93 33 G A 76455270 1144 87 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGTCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988926 75988927 75988927 exon 43 0.462365591397849 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGACCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 879 517 0.809305031145365 0.999693973671197 0.904499502408281 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA -0.0584454819969253 0.0494266858068921 0.982239678993623 0.909008900503298 NA -0.0045093980950166 NA FALSE NA 0.003 0.46 . missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 1 tolerated(0.53) benign(0.008) NA GGC G,A 8.236e-06 14:75988927 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 0.128273 0.2744 0.17688 0.706298 0.863479661695732 0 4.37841580307519e-07 FALSE 4.06256e-06 ENSE00000999521_022 ENSE00000999521 022 14 76455184 76455353 + 44 93 33 C T 76455272 1145 89 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCAGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988928 75988929 75988929 exon 45 0.483870967741935 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCTGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 598 1458 0.996586930406674 0.977036643926097 0.986811787166385 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.128836417264384 0.0267693560617921 0.982239678993623 0.909008900503298 NA 0.0778028866630879 NA FALSE NA 0 -1.812 . synonymous_variant&NMD_transcript_variant LOW IFT43 HGNC 29669 ENST00000542766 2/10 1 NA CCG C,T 3.295e-05 14:75988929 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 synonymous_variant 1.902081 0.20932 0.02247 0.706298 0.404452135983953 0 4.37841580307519e-07 FALSE 1.6251e-05 ENSE00000999521_023 ENSE00000999521 023 14 76455184 76455353 + 44 93 33 G A 76455273 1146 90 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTTGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988929 75988930 75988930 exon 46 0.494623655913978 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCAAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 543 651 0.977583591063232 0.999756985518803 0.988670288291017 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.109833077920942 0.0494896976544982 0.982239678993623 0.909008900503298 NA 0.07966138778772 NA FALSE NA 0.999 3.104 rs140366557 missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 rs140366557 1 deleterious(0.03) possibly_damaging(0.589) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0002 CGA G,A 0.0001153 14:75988930 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 4.88732 0.90247 0.86589 0.706298 0.998372955251142 0 4.37841580307519e-07 FALSE 0.000113755 ENSE00000999521_024 ENSE00000999521 024 14 76455184 76455353 + 44 93 33 A G 76455277 1147 94 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGACTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988933 75988934 75988934 exon -44 0.537634408602151 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAGTCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 414 693 0.989795114893067 0.988823279990103 0.989309197441585 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.122044601750776 0.0385559921257986 0.982239678993623 0.909008900503298 NA 0.0803002969382874 NA FALSE NA 0.973 0.868 rs144327903 missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 rs144327903 1 tolerated(0.46) benign(0.037) NA G:0.0002 G:0 AAT A,G 8.236e-06 14:75988934 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant -0.127661 0.93765 0.80126 0.706298 0.723105491718631 0 4.37841580307519e-07 FALSE 1.21877e-05 ENSE00000999521_025 ENSE00000999521 025 14 76455184 76455353 + 44 93 33 C G 76455279 1148 96 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTCATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988935 75988936 75988936 exon -42 0.559139784946237 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATGACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 544 356 1 0.994631181076871 0.997315590538435 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.13224948685771 0.0443638932125664 0.982239678993623 0.909008900503298 NA 0.088306690035138 NA FALSE NA 0.801 1.287 . missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 1 tolerated(0.51) benign(0.108) NA TCA C,G 1.647e-05 14:75988936 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 0.781366 0.82085 0.8255 0.706298 0.488162897790278 0 4.37841580307519e-07 FALSE 8.12539e-06 ENSE00000999521_026 ENSE00000999521 026 14 76455184 76455353 + 44 93 33 A T 76455286 1149 103 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCAATGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988942 75988943 75988943 exon -35 0.634408602150538 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCATTGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 321 850 1 0.965885096314602 0.982942548157301 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.13224948685771 0.0156178084502977 0.982239678993623 0.909008900503298 NA 0.0739336476540037 NA FALSE NA 0 -0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:75988943 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 0.406179 0.28721 0.12463 0.730579 0.916045231854423 0 4.37841580307519e-07 FALSE 4.06279e-06 ENSE00000999521_027 ENSE00000999521 027 14 76455184 76455353 + 44 93 33 A G 76455286 1150 103 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCACTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988942 75988943 75988943 exon -35 0.634408602150538 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAGTGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 1598 373 0.997980034011954 0.999575763145816 0.998777898578885 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.130229520869663 0.0493084752815109 0.982239678993623 0.909008900503298 NA 0.0897689980755872 NA FALSE NA 0 -0.065 NA NA NA IFT43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT43 NA NA NA ENSG00000119650 ENSE00003652495 missense_variant -1.562726 0.19437 0.01423 0.730579 0.294148121124642 0 4.37841580307519e-07 FALSE 4.06279e-06 ENSE00000999521_029 ENSE00000999521 029 14 76455184 76455353 + 44 93 33 G C 76455311 1152 128 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCCAGTGAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988967 75988968 75988968 exon -10 0.903225806451613 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTCACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 1103 489 1 0.998586715231705 0.999293357615852 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.13224948685771 0.0483194273674004 0.982239678993623 0.909008900503298 NA 0.090284457112555 NA FALSE NA 0.003 0.647 . synonymous_variant&NMD_transcript_variant LOW IFT43 HGNC 29669 ENST00000542766 2/10 1 NA TGA G,C 8.236e-06 14:75988968 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 synonymous_variant 0.716082 0.33059 0.30301 0.730579 0.651280956292985 0 4.37841580307519e-07 FALSE 8.12863e-06 ENSE00000999521_031 ENSE00000999521 031 14 76455184 76455353 + 44 93 33 G A 76455315 1154 132 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTCTAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988971 75988972 75988972 exon -6 0.946236559139785 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTAGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant 16 54 0.958833468868245 0.929944896543099 0.944389182705672 202 882 0.989718744528077 1 0.994859372264039 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 -0.00837609944543749 -0.067324893130466 0.121968231385787 0.0497327121356954 0.982239678993623 0.909008900503298 -0.0378504962879517 0.0858504717607411 0.123700968048693 FALSE FALSE 1 4.098 . missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 1 tolerated(0.15) possibly_damaging(0.865) NA TGG G,A 1.647e-05 14:75988972 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 3.881758 0.84837 0.91126 0.730579 0.997203745612293 0 4.37841580307519e-07 FALSE 1.2195e-05 ENSE00000999521_032 ENSE00000999521 032 14 76455184 76455353 + 44 93 33 G A 76455316 1155 133 TTTCTTCAGATTTTCTTTTTTTTTAGCACCCACCTCTTCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988972 75988973 75988973 exon -5 0.956989247311828 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGAAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant 11 10 1 1 1 1221 670 0.977005166664239 0.997337614812535 0.987171390738387 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 0.0327904316863177 0.0027302103264355 0.109254653521949 0.0470703269482305 0.982239678993623 0.909008900503298 0.0177603210063766 0.0781624902350895 0.0604021692287129 FALSE FALSE 1 1.142 . missense_variant&NMD_transcript_variant MODERATE IFT43 HGNC 29669 ENST00000542766 2/10 1 tolerated(0.21) possibly_damaging(0.687) NA GGA G,A 5.765e-05 14:75988973 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 missense_variant 3.365708 0.86113 0.85488 0.730579 0.994197764707569 0 4.37841580307519e-07 FALSE 6.09741e-05 ENSE00000999521_034 ENSE00000999521 034 14 76455184 76455353 + 44 93 33 G T 76455325 1157 142 TTTCTTCAGATTTTCTTTTTTTTTAGCAACCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988981 75988982 75988982 downstr_intron 5 1.15625 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGTTGCTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 194 98 0.970843423435019 0.990100927939564 0.980472175687292 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.103092910292728 0.0398336400752596 0.982239678993623 0.909008900503298 NA 0.071463275183994 NA FALSE NA 1 5.762 . splice_region_variant&intron_variant&NMD_transcript_variant LOW IFT43 HGNC 29669 ENST00000542766 2/9 rs534582744 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGT G,T 8.236e-06 14:75988982 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 splice_region_variant 2.101606 0.96415 0.9715 0.108992 0.967096495667438 0.973776 4.37841580307519e-07 FALSE 4.06815e-06 ENSE00000999521_035 ENSE00000999521 035 14 76455184 76455353 + 44 93 33 G A 76455327 1158 144 TTTCTTCAGATTTTCTTTTTTTTTAGTACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988983 75988984 75988984 downstr_intron 7 1.21875 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTACTAAAAAAAAAGAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 938 2645 0.995522510405381 0.996119161882145 0.995820836143763 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.127771997263091 0.0458518740178409 0.982239678993623 0.909008900503298 NA 0.0868119356404659 NA FALSE NA 0.4 0.594 . splice_region_variant&intron_variant&NMD_transcript_variant LOW IFT43 HGNC 29669 ENST00000542766 2/9 1 NA TGC G,A 8.236e-06 14:75988984 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 splice_region_variant 1.597061 0.77143 0.32998 0.108992 0.745232438977808 0.442628 4.37841580307519e-07 FALSE 4.06964e-06 ENSE00000999521_036 ENSE00000999521 036 14 76455184 76455353 + 44 93 33 G A 76455339 1159 156 TTTCTTCAGATTTTTTTTTTTTTTAGCACCCACCTCTCCAGTCAGAGTCAAAGAGGAATTCTTGCCATTGAGGTGATTCTCGGCCTGCGCTGACTCCTGTTGAGCTCGGCGACCCATCTTGGCCCTCTGTAAGGAGAAACAGAAGGCACTGCTGACCCAAATGTCATTTG 75988840 75989010 75988995 75988996 75988996 downstr_intron 19 1.59375 CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAAAAAATCTGAAGAAA CAAATGACATTTGGGTCAGCAGTGCCTTCTGTTTCTCCTTACAGAGGGCCAAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAGAATTCCTCTTTGACTCTGACTGGAGAGGTGGGTGCTAAAAAAAAAGAAAATCTGAAGAAA mutant NA NA NA NA NA 44 60 1 0.994724625718689 0.997362312859344 0.967209568313682 0.997269789673564 0.86775051314229 0.950267287864305 NA NA 0.13224948685771 0.044457337854384 0.982239678993623 0.909008900503298 NA 0.0883534123560468 NA FALSE NA 0 -0.577 . intron_variant&NMD_transcript_variant MODIFIER IFT43 HGNC 29669 ENST00000542766 2/9 1 NA AGA G,A 8.236e-06 14:75988996 IFT43 HGNC Symbol protein_coding 182449 ENSG00000119650 ENSE00003652495 intron_variant -0.309386 0.23995 0.0108 0.108992 0.6012602809745 0.0720591 4.37841580307519e-07 FALSE 4.07927e-06 ENSE00000999620_000 ENSE00000999620 000 14 77895988 77896157 - 36 87 47 NA NA NA NA NA TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 NA NA NA NA NA NA TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT natural 259 278 0.85 0.842023395899848 0.846011697949924 1597 4207 0.751802616830167 0.779672382150483 0.765737499490325 0.85 0.842023395899848 0.751802616830167 0.779672382150483 0 0 0 0 0.846011697949924 0.765737499490325 0 0 0 FALSE FALSE NA NA NA NA NA VIPAS39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VIPAS39 NA NA NA ENSG00000151445 ENSE00000999620 NA NA NA NA NA NA NA 0.000534939494815586 FALSE NA ENSE00000999620_001 ENSE00000999620 001 14 77895988 77896157 - 36 87 47 C A 77896000 1195 158 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGTGTACAGGATATT 77429644 77429814 77429656 77429657 77429657 downstr_intron 24 1.68571428571429 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGTGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant NA NA NA NA NA 85 162 0.8 0.8 0.8 0.85 0.842023395899848 0.751802616830167 0.779672382150483 NA NA 0.0481973831698331 0.0203276178495175 0.846011697949924 0.765737499490325 NA 0.0342625005096753 NA FALSE NA 0 -0.167 . intron_variant MODIFIER VIPAS39 HGNC 20347 ENST00000556412 17/19 rs374527121 1 NA A:0.0005 A:0 CCC C,A 5.765e-05 14:77429657 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 intron_variant 1.091363 0.18882 0.24023 0.295142 0.783271518167734 0.299027 0.000534939494815586 FALSE 4.87496e-05 ENSE00000999620_002 ENSE00000999620 002 14 77895988 77896157 - 36 87 47 A G 77896002 1196 156 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTCGGGTACAGGATATT 77429644 77429814 77429658 77429659 77429659 downstr_intron 22 1.62857142857143 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTCGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant 42 112 0.85 0.85 0.85 170 103 0.851812804808878 0.8 0.825906402404439 0.85 0.842023395899848 0.751802616830167 0.779672382150483 1.11022302462516e-16 0.00797660410015177 0.100010187978711 0.0203276178495174 0.846011697949924 0.765737499490325 0.00398830205007594 0.0601689029141142 0.0561806008640383 FALSE FALSE 0.001 0.744 . intron_variant MODIFIER VIPAS39 HGNC 20347 ENST00000556412 17/19 rs202238562 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAA A,G 5.765e-05 14:77429659 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 intron_variant 1.206254 0.228 0.12463 0.295142 0.777428182950701 0.298844 0.000534939494815586 FALSE 0.000101556 ENSE00000999620_004 ENSE00000999620 004 14 77895988 77896157 - 36 87 47 A G 77896019 1198 139 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAACGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429675 77429676 77429676 downstr_intron 5 1.14285714285714 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAACGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant 26 85 0.828626307872822 0.85 0.839313153936411 35 131 0.8 0.855906444350075 0.827953222175038 0.85 0.842023395899848 0.751802616830167 0.779672382150483 -0.0213736921271775 0.00797660410015177 0.0481973831698331 0.0762340621995928 0.846011697949924 0.765737499490325 -0.00669854401351289 0.062215722684713 0.0689142666982259 FALSE FALSE 0.093 0.003 . splice_region_variant&intron_variant LOW VIPAS39 HGNC 20347 ENST00000556412 17/19 1 NA CAT A,G 5.765e-05 14:77429676 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 splice_region_variant 1.640612 0.46995 0.10649 0.295142 0.750741195617682 0.339465 0.000534939494815586 FALSE 3.65598e-05 ENSE00000999620_007 ENSE00000999620 007 14 77895988 77896157 - 36 87 47 A G 77896036 1201 122 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAACGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429692 77429693 77429693 exon -13 0.862068965517241 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAACGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant 17 16 0.995705445585591 0.989645584796021 0.992675515190806 182 56 0.997716634213957 1 0.998858317106978 0.85 0.842023395899848 0.751802616830167 0.779672382150483 0.145705445585591 0.147622188896173 0.24591401738379 0.220327617849517 0.846011697949924 0.765737499490325 0.146663817240882 0.233120817616654 0.0864570003757717 FALSE FALSE 0.998 1.052 rs188105111 synonymous_variant LOW VIPAS39 HGNC 20347 ENST00000556412 17/20 rs188105111 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 0.00028 14:77429693 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 synonymous_variant 0.431911 0.9673 0.70303 0.732398 0.590303302152433 0 0.000534939494815586 FALSE 0.0003087 ENSE00000999620_010 ENSE00000999620 010 14 77895988 77896157 - 36 87 47 T C 77896046 1204 112 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCGCAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429702 77429703 77429703 exon -23 0.747126436781609 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCGCAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant NA NA NA NA NA 181 637 0.941047720571238 0.963678029846309 0.952362875208773 0.85 0.842023395899848 0.751802616830167 0.779672382150483 NA NA 0.189245103741071 0.184005647695826 0.846011697949924 0.765737499490325 NA 0.186625375718449 NA FALSE NA 1 5.774 . missense_variant MODERATE VIPAS39 HGNC 20347 ENST00000556412 17/20 1 tolerated(0.12) benign(0.355) NA GTG T,C 1.647e-05 14:77429703 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 missense_variant 2.109881 0.98674 0.95586 0.732398 0.990484487567577 0 0.000534939494815586 FALSE 8.12354e-06 ENSE00000999620_011 ENSE00000999620 011 14 77895988 77896157 - 36 87 47 C T 77896048 1205 110 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTACACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429704 77429705 77429705 exon -25 0.724137931034483 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTACACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant NA NA NA NA NA 482 17 0.795586212722977 0.823062574113428 0.809324393418203 0.85 0.842023395899848 0.751802616830167 0.779672382150483 NA NA 0.0437835958928103 0.0433901919629457 0.846011697949924 0.765737499490325 NA 0.043586893927878 NA FALSE NA 1 1.382 rs45447095 synonymous_variant LOW VIPAS39 HGNC 20347 ENST00000556412 17/20 rs45447095 1 T:0.0032 T:0 T:0.0029 NA T:0 T:0.007 T:0.0072 T:0.0027 T:0.0073 GCA C,T 0.006342 14:77429705 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 synonymous_variant 1.584203 0.97848 0.86266 0.732398 0.760935044751809 0 0.000534939494815586 FALSE 0.00588575 ENSE00000999620_012 ENSE00000999620 012 14 77895988 77896157 - 36 87 47 G A 77896057 1206 101 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTTGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429713 77429714 77429714 exon -34 0.620689655172414 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTTGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant 18 47 0.0710553580745996 0 0.0355276790372998 NA NA NA NA NA 0.85 0.842023395899848 0.751802616830167 0.779672382150483 -0.7789446419254 -0.842023395899848 NA NA 0.846011697949924 0.765737499490325 -0.810484018912624 NA NA NA TRUE 0.981 0.311 . synonymous_variant LOW VIPAS39 HGNC 20347 ENST00000556412 17/20 1 NA CGA G,A 8.236e-06 14:77429714 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 synonymous_variant 1.425958 0.97321 0.74774 0.732398 0.679504616007883 0 0.000534939494815586 FALSE 4.06174e-06 ENSE00000999620_017 ENSE00000999620 017 14 77895988 77896157 - 36 87 47 G A 77896078 1211 80 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCTATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429734 77429735 77429735 exon 33 0.379310344827586 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCTATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant 211 235 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.842023395899848 0.751802616830167 0.779672382150483 0 0.00797660410015177 NA NA 0.846011697949924 0.765737499490325 0.00398830205007589 NA NA NA FALSE 0.97 0.112 . synonymous_variant LOW VIPAS39 HGNC 20347 ENST00000556412 17/20 1 NA TGG G,A 8.236e-06 14:77429735 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 synonymous_variant 1.180137 0.96784 0.78986 0.732398 0.633026412527316 0 0.000534939494815586 FALSE 4.06171e-06 ENSE00000999620_018 ENSE00000999620 018 14 77895988 77896157 - 36 87 47 G C 77896080 1212 78 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCAGCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429736 77429737 77429737 exon 31 0.35632183908046 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCAGCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant NA NA NA NA NA 255 32 0.808183762518062 0.8 0.804091881259031 0.85 0.842023395899848 0.751802616830167 0.779672382150483 NA NA 0.0563811456878953 0.0203276178495174 0.846011697949924 0.765737499490325 NA 0.0383543817687064 NA FALSE NA 1 9.176 . missense_variant MODERATE VIPAS39 HGNC 20347 ENST00000556412 17/20 1 tolerated(0.21) benign(0.413) NA GGT G,C 1.647e-05 14:77429737 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 missense_variant 3.017086 0.99445 0.9944 0.732398 0.993155290259305 0 0.000534939494815586 FALSE 8.12341e-06 ENSE00000999620_019 ENSE00000999620 019 14 77895988 77896157 - 36 87 47 G A 77896094 1213 64 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATATCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429750 77429751 77429751 exon 17 0.195402298850575 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATATCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant NA NA NA NA NA 1200 258 0.712002767898645 0.8 0.756001383949322 0.85 0.842023395899848 0.751802616830167 0.779672382150483 NA NA -0.039799848931522 0.0203276178495174 0.846011697949924 0.765737499490325 NA -0.00973611554100229 NA FALSE NA 1 7.399 . missense_variant MODERATE VIPAS39 HGNC 20347 ENST00000556412 17/20 rs377223868 1 deleterious(0.02) benign(0.406) A:0.0008 A:0 A:0 NA A:0.004 A:0 A:0 GGT G,A 9.884e-05 14:77429751 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 missense_variant 6.363773 0.98985 0.9763 0.732398 0.99873721961583 0 0.000534939494815586 FALSE 0.000101539 ENSE00000999620_020 ENSE00000999620 020 14 77895988 77896157 - 36 87 47 A G 77896107 1214 51 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACCGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429763 77429764 77429764 exon 4 0.0459770114942529 TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACCGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant 11 15 0.85 0.85 0.85 204 173 0.95 0.911984765199878 0.930992382599939 0.85 0.842023395899848 0.751802616830167 0.779672382150483 0 0.00797660410015177 0.198197383169833 0.132312383049396 0.846011697949924 0.765737499490325 0.00398830205007589 0.165254883109614 0.161266581059539 FALSE FALSE 1 6.684 . missense_variant MODERATE VIPAS39 HGNC 20347 ENST00000556412 17/20 1 deleterious(0) probably_damaging(0.995) NA CAG A,G 8.236e-06 14:77429764 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 missense_variant 6.324281 0.99225 0.98257 0.732398 0.996770732610725 0 0.000534939494815586 FALSE 4.06161e-06 ENSE00000999620_022 ENSE00000999620 022 14 77895988 77896157 - 36 87 47 C T 77896133 1216 25 TTGAGTGTGCCTGGCCTACCTGCCACTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429789 77429790 77429790 upstr_intron -23 -0.468085106382979 TTGAGTGTGCCTGGCCTACCTGCCACTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant 10 20 0.85 0.85 0.85 1611 3460 0.899316256087508 0.953195066699584 0.926255661393546 0.85 0.842023395899848 0.751802616830167 0.779672382150483 0 0.00797660410015177 0.147513639257342 0.173522684549101 0.846011697949924 0.765737499490325 0.00398830205007589 0.160518161903221 0.156529859853145 FALSE FALSE 0 -0.158 . intron_variant MODIFIER VIPAS39 HGNC 20347 ENST00000556412 16/19 1 NA GCG C,T 8.236e-06 14:77429790 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 intron_variant -0.011835 0.17104 0.08729 0.106106 0.535699775270242 0.112383 0.000534939494815586 FALSE 8.12499e-06 ENSE00000999620_023 ENSE00000999620 023 14 77895988 77896157 - 36 87 47 G A 77896134 1217 24 TTGAGTGTGCCTGGCCTACCTGCTGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 77429790 77429791 77429791 upstr_intron -24 -0.48936170212766 TTGAGTGTGCCTGGCCTACCTGCTGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT mutant NA NA NA NA NA 1903 318 0.805574151644012 0.798703498606941 0.802138825125476 0.85 0.842023395899848 0.751802616830167 0.779672382150483 NA NA 0.0537715348138452 0.0190311164564581 0.846011697949924 0.765737499490325 NA 0.0364013256351516 NA FALSE NA 0 0.066 rs140434184 intron_variant MODIFIER VIPAS39 HGNC 20347 ENST00000556412 16/19 rs140434184 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGG G,A 0.0001153 14:77429791 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999620 intron_variant -0.084764 0.10725 0.00103 0.106106 0.476439281729281 0.112383 0.000534939494815586 FALSE 8.53173e-05 ENSE00000999620_BRK ENSE00000999620 BRK 14 77895988 77896157 - 36 87 47 A,G; T,T NA NA NA TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCTTAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGCCAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT 77429644 77429814 NA NA NA NA NA NA TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCTTAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGCCAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT TTGAGTGTGCCTGGCCTACCTGCCGCTACCCCATCTTCCTCTTTCAGAACTGGCTGGGCTATACCAAGAAGAGAGCACCCATTGGCTTCCATCGGGTTGTCGAAATTTTGCACAAGAACAATGCCCCTGTGCAGGTAATGGGTCCTGAAGAGAGTTGGGTACAGGATATT control 140 176 0 0 0 NA NA NA NA NA 0.85 0.842023395899848 0.751802616830167 0.779672382150483 -0.85 -0.842023395899848 NA NA 0.846011697949924 0.765737499490325 -0.846011697949924 NA NA NA TRUE NA NA NA NA NA VIPAS39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VIPAS39 NA NA NA ENSG00000151445 ENSE00000999620 NA NA NA NA NA NA NA 0.000534939494815586 FALSE NA ENSE00000999627_000 ENSE00000999627 000 14 77914786 77914955 - 51 57 62 NA NA NA NA NA CGGGTATGCTGATAAATTTGATTCCTTAACTTCCTGGGATTCACGTATTGCTAATATTCCAGGATTACAGCAATGACTGGAGCCCCAGTGATACAGTGCGACGTCTCCGGAAGGGCAAGGTAAGGACAGAGAATTTTTGTGAGGTTCTTTGGGAAGCTGGGCAGCTTGTT 77448442 77448612 NA NA NA NA NA NA CGGGTATGCTGATAAATTTGATTCCTTAACTTCCTGGGATTCACGTATTGCTAATATTCCAGGATTACAGCAATGACTGGAGCCCCAGTGATACAGTGCGACGTCTCCGGAAGGGCAAGGTAAGGACAGAGAATTTTTGTGAGGTTCTTTGGGAAGCTGGGCAGCTTGTT CGGGTATGCTGATAAATTTGATTCCTTAACTTCCTGGGATTCACGTATTGCTAATATTCCAGGATTACAGCAATGACTGGAGCCCCAGTGATACAGTGCGACGTCTCCGGAAGGGCAAGGTAAGGACAGAGAATTTTTGTGAGGTTCTTTGGGAAGCTGGGCAGCTTGTT natural 36 25 0.998703971241276 0.994027643998748 0.996365807620012 1855 3503 0.939008757679376 0.962442083750965 0.950725420715171 0.998703971241276 0.994027643998748 0.939008757679376 0.962442083750965 0 0 0 0 0.996365807620012 0.950725420715171 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003653304 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00000999635_000 ENSE00000999635 000 14 77900150 77900319 - 35 90 45 NA NA NA NA NA TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 NA NA NA NA NA NA TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG natural 352 510 0.908624839513883 0.832553512631547 0.870589176072715 4903 2785 0.942164490167126 0.960925231917055 0.95154486104209 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 0 0 0 0 0.870589176072715 0.95154486104209 0 0 0 FALSE FALSE NA NA NA NA NA VIPAS39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VIPAS39 NA NA NA ENSG00000151445 ENSE00000999635 NA NA NA NA NA NA NA 0.000534939494815586 FALSE NA ENSE00000999635_005 ENSE00000999635 005 14 77900150 77900319 - 35 90 45 T C 77900186 1222 134 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAGGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433842 77433843 77433843 exon -2 0.988888888888889 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAGGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 145 15 0 0 0 NA NA NA NA NA 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.908624839513883 -0.832553512631547 NA NA 0.870589176072715 0.95154486104209 -0.870589176072715 NA NA NA TRUE 1 4.783 . missense_variant&splice_region_variant MODERATE VIPAS39 HGNC 20347 ENST00000448935 15/19 1 tolerated(0.21) probably_damaging(0.995) NA CTT T,C 8.236e-06 14:77433843 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 missense_variant 3.617594 0.98841 0.95814 0.732398 0.996284367612005 0 0.000534939494815586 FALSE 4.06709e-06 ENSE00000999635_006 ENSE00000999635 006 14 77900150 77900319 - 35 90 45 T C 77900190 1223 130 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCGCAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433846 77433847 77433847 exon -6 0.944444444444444 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCGCAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 73 113 0.842454727727928 0.85 0.846227363863964 47 157 0.8 0.826854830495495 0.813427415247748 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.0661701117859548 0.0174464873684532 -0.142164490167126 -0.13407040142156 0.870589176072715 0.95154486104209 -0.0243618122087508 -0.138117445794343 0.113755633585592 FALSE FALSE 1 5.205 . missense_variant MODERATE VIPAS39 HGNC 20347 ENST00000448935 15/19 1 tolerated(0.32) probably_damaging(0.912) NA GTG T,C 8.236e-06 14:77433847 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 missense_variant 4.251661 0.99027 0.971 0.732398 0.993318828489296 0 0.000534939494815586 FALSE 4.06689e-06 ENSE00000999635_007 ENSE00000999635 007 14 77900150 77900319 - 35 90 45 G A 77900194 1224 126 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTTACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433850 77433851 77433851 exon -10 0.9 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTTACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 22 27 0.85 0.85 0.85 314 781 0.816539279189089 0.863821734668265 0.840180506928677 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.058624839513883 0.0174464873684533 -0.125625210978037 -0.0971034972487901 0.870589176072715 0.95154486104209 -0.0205891760727148 -0.111364354113413 0.0907751780406986 FALSE FALSE 0.613 -0.162 rs148380631 synonymous_variant LOW VIPAS39 HGNC 20347 ENST00000448935 15/19 rs148380631 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGA G,A 2.471e-05 14:77433851 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 synonymous_variant 1.281822 0.95303 0.41806 0.732398 0.698054115599863 0 0.000534939494815586 FALSE 4.06669e-06 ENSE00000999635_009 ENSE00000999635 009 14 77900150 77900319 - 35 90 45 C G 77900215 1226 105 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGCAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433871 77433872 77433872 exon -31 0.666666666666667 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGCAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 51 50 0.839177079959432 0.85 0.844588539979716 NA NA NA NA NA 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.0694477595544507 0.0174464873684532 NA NA 0.870589176072715 0.95154486104209 -0.0260006360929987 NA NA NA FALSE 1 6.775 . missense_variant MODERATE VIPAS39 HGNC 20347 ENST00000448935 15/19 1 deleterious(0) probably_damaging(1) NA TCC C,G 8.236e-06 14:77433872 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 missense_variant 7.30441 0.99294 0.98607 0.732398 0.991996303709883 0 0.000534939494815586 FALSE 8.13458e-06 ENSE00000999635_012 ENSE00000999635 012 14 77900150 77900319 - 35 90 45 G C 77900240 1229 80 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGGTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433896 77433897 77433897 exon 35 0.388888888888889 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGGTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 82 89 0.85 0.85 0.85 NA NA NA NA NA 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.058624839513883 0.0174464873684532 NA NA 0.870589176072715 0.95154486104209 -0.0205891760727149 NA NA NA FALSE 1 6.592 . missense_variant MODERATE VIPAS39 HGNC 20347 ENST00000448935 15/19 1 tolerated(0.17) benign(0.137) NA AGC G,C 8.236e-06 14:77433897 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 missense_variant 3.608522 0.99188 0.98025 0.732398 0.994071443061783 0 0.000534939494815586 FALSE NA ENSE00000999635_014 ENSE00000999635 014 14 77900150 77900319 - 35 90 45 A T 77900266 1231 54 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGAAAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433922 77433923 77433923 exon 9 0.1 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGAAAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant NA NA NA NA NA 909 381 0.991409006116692 0.978613713693397 0.985011359905045 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 NA NA 0.0492445159495664 0.0176884817763415 0.870589176072715 0.95154486104209 NA 0.0334664988629539 NA FALSE NA 0.966 -0.023 . missense_variant MODERATE VIPAS39 HGNC 20347 ENST00000448935 15/19 1 tolerated(1) benign(0.021) NA TAT A,T 8.237e-06 14:77433923 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 missense_variant 0.507908 0.94258 0.54283 0.732398 0.639030379614995 0 0.000534939494815586 FALSE 4.07339e-06 ENSE00000999635_015 ENSE00000999635 015 14 77900150 77900319 - 35 90 45 T C 77900274 1232 46 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGGTCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433930 77433931 77433931 exon 1 0.0111111111111111 TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGGTCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant NA NA NA NA NA 213 70 0.994461359524095 0.999454472032489 0.996957915778292 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 NA NA 0.0522968693569695 0.0385292401154339 0.870589176072715 0.95154486104209 NA 0.0454130547362017 NA FALSE NA 1 4.087 . missense_variant&splice_region_variant MODERATE VIPAS39 HGNC 20347 ENST00000448935 15/19 1 deleterious(0.02) possibly_damaging(0.669) NA ATC T,C 1.647e-05 14:77433931 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 missense_variant 3.927001 0.9807 0.94033 0.732398 0.993824899079789 0 0.000534939494815586 FALSE 8.1485e-06 ENSE00000999635_016 ENSE00000999635 016 14 77900150 77900319 - 35 90 45 G A 77900291 1233 29 TGTATTTCTACTTCCCCTTAATTTTTCTTGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433947 77433948 77433948 upstr_intron -17 -0.355555555555556 TGTATTTCTACTTCCCCTTAATTTTTCTTGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 259 435 0.84788078057759 0.85 0.848940390288795 NA NA NA NA NA 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.0607440589362925 0.0174464873684532 NA NA 0.870589176072715 0.95154486104209 -0.0216487857839197 NA NA NA FALSE 0.322 2.509 . intron_variant MODIFIER VIPAS39 HGNC 20347 ENST00000448935 14/18 rs372598184 1 NA A:0.0002 A:0 CGA A,A 2.471e-05 14:77433948 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 intron_variant 0.9908 0.1217 0.00304 0.088506 0.73987831547212 0.149676 0.000534939494815586 FALSE 2.44918e-05 ENSE00000999635_017 ENSE00000999635 017 14 77900150 77900319 - 35 90 45 T C 77900299 1234 21 TGTATTTCTACTTCCCCTTAGTTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433955 77433956 77433956 upstr_intron -25 -0.533333333333333 TGTATTTCTACTTCCCCTTAGTTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 53 32 0 0 0 NA NA NA NA NA 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.908624839513883 -0.832553512631547 NA NA 0.870589176072715 0.95154486104209 -0.870589176072715 NA NA NA TRUE 0 0 . intron_variant MODIFIER VIPAS39 HGNC 20347 ENST00000448935 14/18 rs367944244 1 NA C:0 C:0.0001 ATT T,C 8.237e-06 14:77433956 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 intron_variant 0.900293 0.17923 0.02969 0.088506 0.621005395422335 0.164901 0.000534939494815586 FALSE 8.17114e-06 ENSE00000999635_018 ENSE00000999635 018 14 77900150 77900319 - 35 90 45 T C 77900300 1235 20 TGTATTTCTACTTCCCCTTGATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433956 77433957 77433957 upstr_intron -26 -0.555555555555556 TGTATTTCTACTTCCCCTTGATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 13 21 0 0 0 NA NA NA NA NA 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.908624839513883 -0.832553512631547 NA NA 0.870589176072715 0.95154486104209 -0.870589176072715 NA NA NA TRUE 0 0.542 . intron_variant MODIFIER VIPAS39 HGNC 20347 ENST00000448935 14/18 1 NA TTA T,C 8.237e-06 14:77433957 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 intron_variant 0.811518 0.21585 0.08702 0.088506 0.720243557928512 0.164901 0.000534939494815586 FALSE 8.17822e-06 ENSE00000999635_019 ENSE00000999635 019 14 77900150 77900319 - 35 90 45 G C 77900304 1236 16 TGTATTTCTACTTCCGCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG 77433806 77433976 77433960 77433961 77433961 upstr_intron -30 -0.644444444444444 TGTATTTCTACTTCCGCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG TGTATTTCTACTTCCCCTTAATTTTTCTCGGTCTCTGCTTTCCAGATCCCAGATAAACAGTATGTGCTGACAGCCCTGGCTGCTCGTGCCAAGCTTCGAGCCTGGAATGATGTAGATGCCCTATTCACCACAAAGGTGTGTGCCCTGCCCCTGTGCTGCTGAGGCCTTGG mutant 84 151 0.85 0.85 0.85 156 38 0.95 0.995815072593961 0.972907536296981 0.908624839513883 0.832553512631547 0.942164490167126 0.960925231917055 -0.0586248395138829 0.0174464873684531 0.00783550983287407 0.0348898406769063 0.870589176072715 0.95154486104209 -0.0205891760727149 0.0213626752548902 0.041951851327605 FALSE FALSE 0 -0.239 . intron_variant MODIFIER VIPAS39 HGNC 20347 ENST00000448935 14/18 1 NA GGG G,C 5.766e-05 14:77433961 VIPAS39 HGNC Symbol protein_coding 31277 ENSG00000151445 ENSE00000999635 intron_variant -0.089857 0.18548 0.09592 0.088506 0.669729075165596 0.065565 0.000534939494815586 FALSE 3.27348e-05 ENSE00000999745_000 ENSE00000999745 000 10 12252215 12252384 + 74 33 63 NA NA NA NA NA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA 12210215 12210385 NA NA NA NA NA NA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA natural 12 41 0.992310120278605 0.85 0.921155060139302 791 1210 0.985637732188899 0.908941275721515 0.947289503955207 0.992310120278605 0.85 0.985637732188899 0.908941275721515 0 0 0 0 0.921155060139302 0.947289503955207 0 0 0 FALSE FALSE NA NA NA NA NA CDC123 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC123 NA NA NA ENSG00000151465 ENSE00003505149 NA NA NA NA NA NA NA 0.239628030246869 FALSE NA ENSE00000999745_004 ENSE00000999745 004 10 12252215 12252384 + 74 33 63 G A 12252260 308 46 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATATTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA 12210215 12210385 12210260 12210261 12210261 upstr_intron -29 -0.378378378378378 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATATTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA mutant NA NA NA NA NA 1505 106 0.986365845943768 0.975702184155264 0.981034015049516 0.992310120278605 0.85 0.985637732188899 0.908941275721515 NA NA 0.00072811375486892 0.0667609084337489 0.921155060139302 0.947289503955207 NA 0.0337445110943089 NA FALSE NA 0 -0.896 rs186070657 intron_variant MODIFIER CDC123 HGNC 16827 ENST00000378900 3/11 rs186070657 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 4.943e-05 10:12210261 CDC123 HGNC Symbol protein_coding 54624 ENSG00000151465 ENSE00003505149 intron_variant 1.066281 0.16525 0.04996 0.295142 0.771086792808413 0.152421 0.239628030246869 FALSE 3.27732e-05 ENSE00000999745_008 ENSE00000999745 008 10 12252215 12252384 + 74 33 63 C A 12252282 312 68 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTAATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA 12210215 12210385 12210282 12210283 12210283 upstr_intron -7 -0.0810810810810811 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTAATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA mutant NA NA NA NA NA 144 1637 0.812239529787886 0.800154478337276 0.806197004062581 0.992310120278605 0.85 0.985637732188899 0.908941275721515 NA NA -0.173398202401013 -0.108786797384239 0.921155060139302 0.947289503955207 NA -0.141092499892626 NA FALSE NA 0 0.661 . splice_region_variant&intron_variant LOW CDC123 HGNC 16827 ENST00000378900 3/11 1 NA TCA C,A 1.647e-05 10:12210283 CDC123 HGNC Symbol protein_coding 54624 ENSG00000151465 ENSE00003505149 splice_region_variant 0.379143 0.27732 0.26053 0.295142 0.386984083901245 0.212252 0.239628030246869 FALSE 8.13895e-06 ENSE00000999745_011 ENSE00000999745 011 10 12252215 12252384 + 74 33 63 G A 12252303 315 89 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAAAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA 12210215 12210385 12210303 12210304 12210304 exon 15 0.454545454545455 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAAAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA mutant NA NA NA NA NA 69 32 0.8 0.8 0.8 0.992310120278605 0.85 0.985637732188899 0.908941275721515 NA NA -0.185637732188899 -0.108941275721515 0.921155060139302 0.947289503955207 NA -0.147289503955207 NA FALSE NA 1 1.662 . synonymous_variant LOW CDC123 HGNC 16827 ENST00000378900 4/12 1 NA AGA G,A 3.295e-05 10:12210304 CDC123 HGNC Symbol protein_coding 54624 ENSG00000151465 ENSE00003505149 synonymous_variant 1.124638 0.96826 0.89458 0.719381 0.383380726319817 0 0.239628030246869 FALSE 3.65711e-05 ENSE00000999745_013 ENSE00000999745 013 10 12252215 12252384 + 74 33 63 T C 12252317 317 103 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCCTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA 12210215 12210385 12210317 12210318 12210318 exon -5 0.878787878787879 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCCTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA mutant NA NA NA NA NA 68 160 1 1 1 0.992310120278605 0.85 0.985637732188899 0.908941275721515 NA NA 0.0143622678111005 0.0910587242784853 0.921155060139302 0.947289503955207 NA 0.0527104960447929 NA FALSE NA 1 4.709 . missense_variant MODERATE CDC123 HGNC 16827 ENST00000378900 4/12 rs576857381 1 tolerated(0.12) benign(0.431) NA CTT T,C 8.236e-06 10:12210318 CDC123 HGNC Symbol protein_coding 54624 ENSG00000151465 ENSE00003505149 missense_variant 1.911952 0.98949 0.97837 0.719381 0.99598991258255 0 0.239628030246869 FALSE 4.06359e-06 ENSE00000999745_016 ENSE00000999745 016 10 12252215 12252384 + 74 33 63 A G 12252325 320 111 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAGGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA 12210215 12210385 12210325 12210326 12210326 downstr_intron 4 1.06451612903226 ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAGGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA mutant NA NA NA NA NA 117 300 0 0 0 0.992310120278605 0.85 0.985637732188899 0.908941275721515 NA NA -0.985637732188899 -0.908941275721515 0.921155060139302 0.947289503955207 NA -0.947289503955207 NA TRUE NA 1 7.185 NA NA NA CDC123 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:12210326 CDC123 HGNC Symbol protein_coding 54624 ENSG00000151465 ENSE00003505149 splice_region_variant 0.834706 0.98335 0.98929 0.156188 0.838274593912336 0.856851 0.239628030246869 FALSE 4.06312e-06 ENSE00000999745_BRK ENSE00000999745 BRK 10 12252215 12252384 + 74 33 63 A,G; T,T NA NA NA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCTTTGGTCTGATGATGAGAACACAGCCACGCTTACGCCAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA 12210215 12210385 NA NA NA NA NA NA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCTTTGGTCTGATGATGAGAACACAGCCACGCTTACGCCAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA ATGGAGCACTGCTTTTTGAAGCCCAGTGCAGTATTTAAATTTAATGTTTTATTTTTTTCCTCTTTTTCATGCAGTGGTCTGATGATGAGAACACAGCCACGCTTACGGTAAGAGCACAGCAGACTCAGCGTGGGGACAGCCTCACACTGTCACACAAGGGTTAGCGTCAA control NA NA NA NA NA 268 139 0 0 0 0.992310120278605 0.85 0.985637732188899 0.908941275721515 NA NA -0.985637732188899 -0.908941275721515 0.921155060139302 0.947289503955207 NA -0.947289503955207 NA TRUE NA NA NA NA NA NA CDC123 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC123 NA NA NA ENSG00000151465 ENSE00003505149 NA NA NA NA NA NA NA 0.239628030246869 FALSE NA ENSE00000999813_000 ENSE00000999813 000 10 13804573 13804742 - 51 57 62 NA NA NA NA NA TAAAAGAAAAAAATGGTGGTTAAATACCAAACTTGTCTTCGTTTGTTGCTTTTTCCTTTCAGGAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAATTAGCTTCCTATATTTTACAGGTAAGTTGTTTTTCTCCTCCTCTTTATGTCCCACGGCCATACACAGAAGAA 13762572 13762742 NA NA NA NA NA NA TAAAAGAAAAAAATGGTGGTTAAATACCAAACTTGTCTTCGTTTGTTGCTTTTTCCTTTCAGGAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAATTAGCTTCCTATATTTTACAGGTAAGTTGTTTTTCTCCTCCTCTTTATGTCCCACGGCCATACACAGAAGAA TAAAAGAAAAAAATGGTGGTTAAATACCAAACTTGTCTTCGTTTGTTGCTTTTTCCTTTCAGGAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAATTAGCTTCCTATATTTTACAGGTAAGTTGTTTTTCTCCTCCTCTTTATGTCCCACGGCCATACACAGAAGAA natural NA NA NA NA NA 5588 1965 0.958905937077555 0.933948068621902 0.946427002849728 NA NA 0.958905937077555 0.933948068621902 NA NA 0 0 NA 0.946427002849728 NA 0 NA FALSE NA NA NA NA NA NA FRMD4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4A NA NA NA ENSG00000151474 ENSE00000999813 NA NA NA NA NA NA NA 0.999986541343185 TRUE NA ENSE00000999813_018 ENSE00000999813 018 10 13804573 13804742 - 51 57 62 A G 13804704 360 39 TAAAAGAAAAAAATGGTGGTTAAATACCAAACTTGTCTCCGTTTGTTGCTTTTTCCTTTCAGGAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAATTAGCTTCCTATATTTTACAGGTAAGTTGTTTTTCTCCTCCTCTTTATGTCCCACGGCCATACACAGAAGAA 13762572 13762742 13762703 13762704 13762704 upstr_intron -24 -0.370967741935484 TAAAAGAAAAAAATGGTGGTTAAATACCAAACTTGTCTCCGTTTGTTGCTTTTTCCTTTCAGGAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAATTAGCTTCCTATATTTTACAGGTAAGTTGTTTTTCTCCTCCTCTTTATGTCCCACGGCCATACACAGAAGAA TAAAAGAAAAAAATGGTGGTTAAATACCAAACTTGTCTTCGTTTGTTGCTTTTTCCTTTCAGGAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAATTAGCTTCCTATATTTTACAGGTAAGTTGTTTTTCTCCTCCTCTTTATGTCCCACGGCCATACACAGAAGAA mutant NA NA NA NA NA 253 86 0.981377418740489 0.998156542939086 0.989766980839788 NA NA 0.958905937077555 0.933948068621902 NA NA 0.0224714816629341 0.0642084743171843 NA 0.946427002849728 NA 0.0433399779900592 NA FALSE NA 0.072 1.961 . intron_variant MODIFIER FRMD4A HGNC 25491 ENST00000378503 5/22 1 NA GAA A,G 8.238e-06 10:13762704 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00000999813 intron_variant 0.341393 0.22829 0.16787 0.067858 0.586765576926263 0.0448725 0.999986541343185 TRUE NA ENSE00000999991_000 ENSE00000999991 000 11 134120124 134120293 - 45 69 56 NA NA NA NA NA TTCATCCCACCTGGGTCTCAGGCGACCTCCTCCTTACCCTCTTACCTGGTAGTTACGAACACCATCCCAGCATGTTGTCTGTTTGGGCTGTGCTTTGAGATCCTCAATGCTGAACTAGGCAAGAGGAAATAAATTCAATCATTAAACAATCCTTGGCCAGTTAGTAAGCA 134250229 134250399 NA NA NA NA NA NA TGCTTACTAACTGGCCAAGGATTGTTTAATGATTGAATTTATTTCCTCTTGCCTAGTTCAGCATTGAGGATCTCAAAGCACAGCCCAAACAGACAACATGCTGGGATGGTGTTCGTAACTACCAGGTAAGAGGGTAAGGAGGAGGTCGCCTGAGACCCAGGTGGGATGAA TGCTTACTAACTGGCCAAGGATTGTTTAATGATTGAATTTATTTCCTCTTGCCTAGTTCAGCATTGAGGATCTCAAAGCACAGCCCAAACAGACAACATGCTGGGATGGTGTTCGTAACTACCAGGTAAGAGGGTAAGGAGGAGGTCGCCTGAGACCCAGGTGGGATGAA natural NA NA NA NA NA 1934 1378 0.97339542161473 0.995221123564091 0.98430827258941 NA NA 0.97339542161473 0.995221123564091 NA NA 0 0 NA 0.98430827258941 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003533917 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001000559_000 ENSE00001000559 000 12 104200591 104200760 - 42 75 53 NA NA NA NA NA ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT 103806812 103806982 NA NA NA NA NA NA ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT natural NA NA NA NA NA 235 695 0.995403465587186 0.986567175726396 0.990985320656791 NA NA 0.995403465587186 0.986567175726396 NA NA 0 0 NA 0.990985320656791 NA 0 NA FALSE NA NA NA NA NA NA NT5DC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NT5DC3 NA NA NA ENSG00000111696 ENSE00001000559 NA NA NA NA NA NA NA 0.000112402109573626 FALSE NA ENSE00001000559_001 ENSE00001000559 001 12 104200591 104200760 - 42 75 53 T C 104200607 2981 154 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTGTGGTTTAATGATGTTT 103806812 103806982 103806828 103806829 103806829 downstr_intron 26 1.63414634146341 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTGTGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 444 741 1 1 1 NA NA 0.995403465587186 0.986567175726396 NA NA 0.00459653441281405 0.0134328242736038 NA 0.990985320656791 NA 0.00901467934320893 NA FALSE NA 0 -2.467 . intron_variant MODIFIER NT5DC3 HGNC 30826 ENST00000392876 3/13 rs538241869 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATA T,C 2.471e-05 12:103806829 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00001000559 intron_variant -0.240358 0.15584 0.06001 0.119485 0.433122885728579 0.0538044 0.000112402109573626 FALSE 2.87215e-05 ENSE00001000559_002 ENSE00001000559 002 12 104200591 104200760 - 42 75 53 A T 104200608 2982 153 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCAATGGTTTAATGATGTTT 103806812 103806982 103806829 103806830 103806830 downstr_intron 25 1.60975609756098 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCAATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 74 309 1 1 1 NA NA 0.995403465587186 0.986567175726396 NA NA 0.00459653441281405 0.0134328242736038 NA 0.990985320656791 NA 0.00901467934320893 NA FALSE NA 0.019 0.921 rs141581754 intron_variant MODIFIER NT5DC3 HGNC 30826 ENST00000392876 3/13 rs141581754 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0009 T:0 TAG A,T 0.0001153 12:103806830 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00001000559 intron_variant 0.362539 0.32045 0.20646 0.119485 0.81854340758129 0.0538044 0.000112402109573626 FALSE 7.7918e-05 ENSE00001000559_003 ENSE00001000559 003 12 104200591 104200760 - 42 75 53 A G 104200614 2983 147 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGCTTTTCTATGGTTTAATGATGTTT 103806812 103806982 103806835 103806836 103806836 downstr_intron 19 1.46341463414634 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGCTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 494 188 1 0.995404839662425 0.997702419831213 NA NA 0.995403465587186 0.986567175726396 NA NA 0.00459653441281405 0.00883766393602881 NA 0.990985320656791 NA 0.00671709917442143 NA FALSE NA 0 -1.308 rs150294917 intron_variant MODIFIER NT5DC3 HGNC 30826 ENST00000392876 3/13 rs150294917 1 G:0.0052 G:0.0189 G:0.0014 NA G:0 G:0 G:0 G:0.0143 G:0.0001 AAC A,G 0.001235 12:103806836 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00001000559 intron_variant 0.311919 0.23212 0.08148 0.119485 0.516512146550211 0.0538044 0.000112402109573626 FALSE 0.00113749 ENSE00001000559_007 ENSE00001000559 007 12 104200591 104200760 - 42 75 53 T C 104200637 2987 124 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACGGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT 103806812 103806982 103806858 103806859 103806859 exon -5 0.946666666666667 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACGGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 681 379 0.968146076991332 0.91408740806299 0.941116742527161 NA NA 0.995403465587186 0.986567175726396 NA NA -0.0272573885958535 -0.0724797676634061 NA 0.990985320656791 NA -0.0498685781296298 NA FALSE NA 1 7.628 . missense_variant MODERATE NT5DC3 HGNC 30826 ENST00000392876 3/14 1 tolerated(0.13) possibly_damaging(0.474) NA CTG T,C 8.236e-06 12:103806859 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00001000559 missense_variant 3.058798 0.973 0.97195 0.615465 0.98697545675111 0 0.000112402109573626 FALSE 4.06901e-06 ENSE00001000559_011 ENSE00001000559 011 12 104200591 104200760 - 42 75 53 T C 104200685 2991 76 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTGTGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT 103806812 103806982 103806906 103806907 103806907 exon 23 0.306666666666667 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTGTGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 1657 186 0.953586002948357 0.893060694161724 0.92332334855504 NA NA 0.995403465587186 0.986567175726396 NA NA -0.041817462638829 -0.0935064815646725 NA 0.990985320656791 NA -0.0676619721017507 NA FALSE NA 1 5.914 . missense_variant MODERATE NT5DC3 HGNC 30826 ENST00000392876 3/14 1 deleterious(0) probably_damaging(0.998) NA ATA T,C 8.236e-06 12:103806907 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00001000559 missense_variant 6.049532 0.97335 0.96165 0.615465 0.998467441565298 0 0.000112402109573626 FALSE 4.06679e-06 ENSE00001000559_014 ENSE00001000559 014 12 104200591 104200760 - 42 75 53 T C 104200699 2994 62 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCGGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT 103806812 103806982 103806920 103806921 103806921 exon 9 0.12 ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCGGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 207 184 0.987425853727438 1 0.993712926863719 NA NA 0.995403465587186 0.986567175726396 NA NA -0.00797761185974821 0.0134328242736038 NA 0.990985320656791 NA 0.0027276062069278 NA FALSE NA 0.725 0.393 . synonymous_variant LOW NT5DC3 HGNC 30826 ENST00000392876 3/14 1 NA CTG T,C 8.236e-06 12:103806921 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00001000559 synonymous_variant -0.023423 0.35464 0.32929 0.706298 0.597821497024781 0 0.000112402109573626 FALSE 4.06719e-06 ENSE00001000559_016 ENSE00001000559 016 12 104200591 104200760 - 42 75 53 A C 104200742 2996 19 ATCCTGCACTTGGCACATGGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT 103806812 103806982 103806963 103806964 103806964 upstr_intron -35 -0.641509433962264 ATCCTGCACTTGGCACATGGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 369 343 0.99649051429302 0.997177043714475 0.996833779003748 NA NA 0.995403465587186 0.986567175726396 NA NA 0.00108704870583409 0.0106098679880791 NA 0.990985320656791 NA 0.00584845834695658 NA FALSE NA 0 -0.237 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103806964 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00001000559 intron_variant -0.402999 0.22886 0.12686 0.158681 0.755219200562561 0.0710923 0.000112402109573626 FALSE 8.1706e-06 ENSE00001000559_017 ENSE00001000559 017 12 104200591 104200760 - 42 75 53 A G 104200742 2997 19 ATCCTGCACTTGGCACATCGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT 103806812 103806982 103806963 103806964 103806964 upstr_intron -35 -0.641509433962264 ATCCTGCACTTGGCACATCGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 952 133 0.999740341222444 0.982977537437117 0.99135893932978 NA NA 0.995403465587186 0.986567175726396 NA NA 0.00433687563525764 -0.00358963828927961 NA 0.990985320656791 NA 0.000373618672989018 NA FALSE NA 0 -0.237 NA NA NA NT5DC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NT5DC3 NA NA NA ENSG00000111696 ENSE00001000559 intron_variant -0.170088 0.2114 0.08376 0.158681 0.740582345696971 0.0710923 0.000112402109573626 FALSE 8.1706e-06 ENSE00001000559_018 ENSE00001000559 018 12 104200591 104200760 - 42 75 53 A G 104200743 2998 18 ATCCTGCACTTGGCACACTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT 103806812 103806982 103806964 103806965 103806965 upstr_intron -36 -0.660377358490566 ATCCTGCACTTGGCACACTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT mutant NA NA NA NA NA 670 793 0.997243906112639 1 0.99862195305632 NA NA 0.995403465587186 0.986567175726396 NA NA 0.00184044052545351 0.0134328242736038 NA 0.990985320656791 NA 0.00763663239952866 NA FALSE NA 0 0.076 . intron_variant MODIFIER NT5DC3 HGNC 30826 ENST00000392876 2/13 1 NA AAT A,G 8.236e-06 12:103806965 NT5DC3 HGNC Symbol protein_coding 70744 ENSG00000111696 ENSE00001000559 intron_variant 0.23263 0.24642 0.11943 0.158681 0.75951259660768 0.0710923 0.000112402109573626 FALSE 4.08627e-06 ENSE00001000559_BRK ENSE00001000559 BRK 12 104200591 104200760 - 42 75 53 A,G; T,T NA NA NA ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTTTTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGCCAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT 103806812 103806982 NA NA NA NA NA NA ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTTTTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGCCAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT ATCCTGCACTTGGCACATTGTTGGCTAAAACCAGTTCCTTTCTTCTTTCTTAGTATCCAGCAGAAATCAGGAAGTATGAGTATGACCCAAATTTTGCAATTCGTGGACTTCATTATGATGTACAGCGGGTAGGTTTACTTCTCCTGTTTTTCTATGGTTTAATGATGTTT control NA NA NA NA NA 816 1071 0 0.0453497442776339 0.0226748721388169 NA NA 0.995403465587186 0.986567175726396 NA NA -0.995403465587186 -0.941217431448762 NA 0.990985320656791 NA -0.968310448517974 NA TRUE NA NA NA NA NA NA NT5DC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NT5DC3 NA NA NA ENSG00000111696 ENSE00001000559 NA NA NA NA NA NA NA 0.000112402109573626 FALSE NA ENSE00001000899_000 ENSE00001000899 000 10 7747018 7747187 + 53 75 42 NA NA NA NA NA TTTCACTTTTTTTCCCCCTTTTGGGAGTAAACCTTACTATACCTGATATCTCCGGTTCTCTGCCACCAATTGAAATTTGCCTGGGGCCAGTTCCACAAGATCTTCATAGTCTACAAACTTAAAAAAAATTAGGATTTTAACTTTTTTTTTTTTAATTATACTGTAAGTTC 7705054 7705224 NA NA NA NA NA NA GAACTTACAGTATAATTAAAAAAAAAAAAGTTAAAATCCTAATTTTTTTTAAGTTTGTAGACTATGAAGATCTTGTGGAACTGGCCCCAGGCAAATTTCAATTGGTGGCAGAGAACCGGAGATATCAGGTATAGTAAGGTTTACTCCCAAAAGGGGGAAAAAAAGTGAAA GAACTTACAGTATAATTAAAAAAAAAAAAGTTAAAATCCTAATTTTTTTTAAGTTTGTAGACTATGAAGATCTTGTGGAACTGGCCCCAGGCAAATTTCAATTGGTGGCAGAGAACCGGAGATATCAGGTATAGTAAGGTTTACTCCCAAAAGGGGGAAAAAAAGTGAAA natural NA NA NA NA NA 116 174 0.906459158283047 0.732704010642074 0.81958158446256 NA NA 0.906459158283047 0.732704010642074 NA NA 0 0 NA 0.81958158446256 NA 0 NA FALSE NA NA NA NA NA NA ITIH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITIH2 NA NA NA ENSG00000151655 ENSE00003673472 NA NA NA NA NA NA NA 7.06617629312369e-10 FALSE NA ENSE00001000899_003 ENSE00001000899 003 10 7747018 7747187 + 53 75 42 A T 7747042 283 25 TTTCACTTTTTTTCCCCCTTTTGGGAGTAAACCTTACTATACCTGATATCTCCGGTTCTCTGCCACCAATTGAAATTTGCCTGGGGCCAGTTCCACAAGATCTTCATAGTCTACAAACTTAAAAAAAATTAGGATTTTAACTTTTATTTTTTTAATTATACTGTAAGTTC 7705054 7705224 7705078 7705079 7705079 upstr_intron -29 -0.528301886792453 GAACTTACAGTATAATTAAAAAAATAAAAGTTAAAATCCTAATTTTTTTTAAGTTTGTAGACTATGAAGATCTTGTGGAACTGGCCCCAGGCAAATTTCAATTGGTGGCAGAGAACCGGAGATATCAGGTATAGTAAGGTTTACTCCCAAAAGGGGGAAAAAAAGTGAAA GAACTTACAGTATAATTAAAAAAAAAAAAGTTAAAATCCTAATTTTTTTTAAGTTTGTAGACTATGAAGATCTTGTGGAACTGGCCCCAGGCAAATTTCAATTGGTGGCAGAGAACCGGAGATATCAGGTATAGTAAGGTTTACTCCCAAAAGGGGGAAAAAAAGTGAAA mutant NA NA NA NA NA 351 1776 0.793946695405874 0.804676569164827 0.799311632285351 NA NA 0.906459158283047 0.732704010642074 NA NA -0.112512462877173 0.0719725585227534 NA 0.81958158446256 NA -0.0202699521772098 NA FALSE NA 0.228 -0.055 . intron_variant&non_coding_transcript_variant MODIFIER ITIH2 HGNC 6167 ENST00000480387 1/5 1 NA AAA A,T 1.65e-05 10:7705079 ITIH2 HGNC Symbol protein_coding 46251 ENSG00000151655 ENSE00003673472 intron_variant -0.638142 0.12555 0.01866 0.061011 0.400171010861658 0.0524829 7.06617629312369e-10 FALSE 2.74507e-05 ENSE00001001090_000 ENSE00001001090 000 5 58286601 58286770 - 30 99 41 NA NA NA NA NA CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT 58990773 58990943 NA NA NA NA NA NA CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT natural NA NA NA NA NA 129 152 0.926940459060609 0.757514287356626 0.842227373208618 NA NA 0.926940459060609 0.757514287356626 NA NA 0 0 NA 0.842227373208618 NA 0 NA FALSE NA NA NA NA NA NA PDE4D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE4D NA NA NA ENSG00000113448 ENSE00003585964 NA NA NA NA NA NA NA 0.983199686418857 TRUE NA ENSE00001001090_001 ENSE00001001090 001 5 58286601 58286770 - 30 99 41 G C 58286614 630 157 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTGTATTACATTTATT 58990773 58990943 58990786 58990787 58990787 downstr_intron 17 1.58620689655172 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTGTATTACATTTATT CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT mutant NA NA NA NA NA 18 15 0.95447743192695 0.966164930398066 0.960321181162508 NA NA 0.926940459060609 0.757514287356626 NA NA 0.0275369728663412 0.20865064304144 NA 0.842227373208618 NA 0.11809380795389 NA FALSE NA 0 -0.937 rs1542842 intron_variant&non_coding_transcript_variant MODIFIER PDE4D HGNC 8783 ENST00000515011 4/9 rs1542842 1 C:0.0170 C:0.0522 C:0.0159 NA C:0 C:0.005 C:0 C:0.0574 C:0.0044 AGA G,C 0.007337 5:58990787 PDE4D HGNC Symbol protein_coding 1553082 ENSG00000113448 ENSE00003585964 intron_variant -0.045548 0.24185 0.05303 0.078448 0.511466529598563 0.0699066 0.983199686418857 TRUE 0.00767227 ENSE00001001090_006 ENSE00001001090 006 5 58286601 58286770 - 30 99 41 T C 58286668 635 103 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAGCCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT 58990773 58990943 58990840 58990841 58990841 exon -38 0.626262626262626 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAGCCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT mutant NA NA NA NA NA 94 103 0.998679139689384 0.855860043736956 0.92726959171317 NA NA 0.926940459060609 0.757514287356626 NA NA 0.0717386806287752 0.0983457563803294 NA 0.842227373208618 NA 0.0850422185045523 NA FALSE NA 1 4.675 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE4D HGNC 8783 ENST00000515011 4/10 1 NA GTT T,C 8.283e-06 5:58990841 PDE4D HGNC Symbol protein_coding 1553082 ENSG00000113448 ENSE00003585964 missense_variant 3.130661 0.99229 0.96569 0.615465 0.996286207780704 0 0.983199686418857 TRUE NA ENSE00001001090_009 ENSE00001001090 009 5 58286601 58286770 - 30 99 41 T G 58286682 638 89 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCCGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT 58990773 58990943 58990854 58990855 58990855 exon 48 0.484848484848485 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCCGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT mutant NA NA NA NA NA 165 69 1 1 1 NA NA 0.926940459060609 0.757514287356626 NA NA 0.0730595409393913 0.242485712643374 NA 0.842227373208618 NA 0.157772626791382 NA FALSE NA 0.245 -0.362 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE4D HGNC 8783 ENST00000515011 4/10 1 NA CTG T,G 8.283e-06 5:58990855 PDE4D HGNC Symbol protein_coding 1553082 ENSG00000113448 ENSE00003585964 synonymous_variant 0.742409 0.96561 0.51734 0.615465 0.736299738321417 0 0.983199686418857 TRUE 4.21802e-06 ENSE00001001090_011 ENSE00001001090 011 5 58286601 58286770 - 30 99 41 T C 58286709 640 62 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAGTGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT 58990773 58990943 58990881 58990882 58990882 exon 21 0.212121212121212 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAGTGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT mutant NA NA NA NA NA 95 115 0.998382993939625 0.99696491586736 0.997673954903493 NA NA 0.926940459060609 0.757514287356626 NA NA 0.0714425348790166 0.239450628510734 NA 0.842227373208618 NA 0.155446581694875 NA FALSE NA 0.994 0.352 rs150909718 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE4D HGNC 8783 ENST00000515011 4/10 rs150909718 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATT T,C 8.289e-06 5:58990882 PDE4D HGNC Symbol protein_coding 1553082 ENSG00000113448 ENSE00003585964 synonymous_variant 0.261893 0.97348 0.80313 0.615465 0.741365756146614 0 0.983199686418857 TRUE NA ENSE00001001090_015 ENSE00001001090 015 5 58286601 58286770 - 30 99 41 T A 58286736 644 35 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCTCTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT 58990773 58990943 58990908 58990909 58990909 upstr_intron -7 -0.146341463414634 CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCTCTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT mutant NA NA NA NA NA 12 48 0.992932716708026 0.984324633578463 0.988628675143244 NA NA 0.926940459060609 0.757514287356626 NA NA 0.0659922576474175 0.226810346221836 NA 0.842227373208618 NA 0.146401301934627 NA FALSE NA 0 -0.428 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PDE4D HGNC 8783 ENST00000515011 3/9 rs373307129 1 NA A:0 A:0.0001 GTG T,A 5.271e-05 5:58990909 PDE4D HGNC Symbol protein_coding 1553082 ENSG00000113448 ENSE00003585964 splice_region_variant 0.29167 0.26017 0.23662 0.078448 0.474077613856829 0.0931646 0.983199686418857 TRUE 8.27472e-05 ENSE00001001090_016 ENSE00001001090 016 5 58286601 58286770 - 30 99 41 A C 58286745 645 26 CTTTCTAATATTTTAGTATCTTTTTGTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT 58990773 58990943 58990917 58990918 58990918 upstr_intron -16 -0.365853658536585 CTTTCTAATATTTTAGTATCTTTTTGTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT mutant NA NA NA NA NA 52 15 1 1 1 NA NA 0.926940459060609 0.757514287356626 NA NA 0.0730595409393913 0.242485712643374 NA 0.842227373208618 NA 0.157772626791382 NA FALSE NA 0.001 1.091 . intron_variant&non_coding_transcript_variant MODIFIER PDE4D HGNC 8783 ENST00000515011 3/9 1 NA AAA A,C 8.446e-06 5:58990918 PDE4D HGNC Symbol protein_coding 1553082 ENSG00000113448 ENSE00003585964 intron_variant -0.484413 0.28395 0.34404 0.053691 0.733346961881159 0.046875 0.983199686418857 TRUE 1.27771e-05 ENSE00001001090_017 ENSE00001001090 017 5 58286601 58286770 - 30 99 41 A T 58286748 646 23 CTTTCTAATATTTTAGTATCTTATTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT 58990773 58990943 58990920 58990921 58990921 upstr_intron -19 -0.439024390243902 CTTTCTAATATTTTAGTATCTTATTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT CTTTCTAATATTTTAGTATCTTTTTTTTTTTTTCACTCCAGGAACTAGAAGATGTGAACAAATGGGGTCTTCATGTTTTCAGAATAGCAGAGTTGTCTGGTAACCGGCCCTTGACTGTTATCATGCACACCATTTTTCAGGTAAGGTGGTTGAGTTCTATTACATTTATT mutant NA NA NA NA NA 76 128 1 1 1 NA NA 0.926940459060609 0.757514287356626 NA NA 0.0730595409393913 0.242485712643374 NA 0.842227373208618 NA 0.157772626791382 NA FALSE NA 0.001 0.218 . intron_variant&non_coding_transcript_variant MODIFIER PDE4D HGNC 8783 ENST00000515011 3/9 1 NA AAA A,T 8.513e-06 5:58990921 PDE4D HGNC Symbol protein_coding 1553082 ENSG00000113448 ENSE00003585964 intron_variant -0.667304 0.23218 0.01648 0.053691 0.420788617375709 0.046875 0.983199686418857 TRUE 6.70817e-06 ENSE00001001590_000 ENSE00001001590 000 14 52178192 52178361 + 57 66 47 NA NA NA NA NA ACAGAAGACATGGCTGACAGCATTTGACACAATTCTCATTTACCAACCTGAAAAATCTGTATTCCCCTCATGGTCAATCCAAGAGTCAGCGATGCTTCAATTTCCCTTTTATCCTGTAGGAATAGGATTTTATAAAAAATTAAATGTTTTTATATATTTTTTCTACAGTG 51711473 51711643 NA NA NA NA NA NA CACTGTAGAAAAAATATATAAAAACATTTAATTTTTTATAAAATCCTATTCCTACAGGATAAAAGGGAAATTGAAGCATCGCTGACTCTTGGATTGACCATGAGGGGAATACAGATTTTTCAGGTTGGTAAATGAGAATTGTGTCAAATGCTGTCAGCCATGTCTTCTGT CACTGTAGAAAAAATATATAAAAACATTTAATTTTTTATAAAATCCTATTCCTACAGGATAAAAGGGAAATTGAAGCATCGCTGACTCTTGGATTGACCATGAGGGGAATACAGATTTTTCAGGTTGGTAAATGAGAATTGTGTCAAATGCTGTCAGCCATGTCTTCTGT natural NA NA NA NA NA 2787 2253 0.905523968423667 0.990787222796978 0.948155595610323 NA NA 0.905523968423667 0.990787222796978 NA NA 0 0 NA 0.948155595610323 NA 0 NA FALSE NA NA NA NA NA NA FRMD6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD6 NA NA NA ENSG00000139926 ENSE00003595226 NA NA NA NA NA NA NA 0.438403934830725 FALSE NA ENSE00001001590_001 ENSE00001001590 001 14 52178192 52178361 + 57 66 47 T C 52178206 414 15 ACAGAAGACATGGCTGACAGCATTTGACACAATTCTCATTTACCAACCTGAAAAATCTGTATTCCCCTCATGGTCAATCCAAGAGTCAGCGATGCTTCAATTTCCCTTTTATCCTGTAGGAATAGGATTTTATAAAAAATTAAATGTTTTTATATGTTTTTTCTACAGTG 51711473 51711643 51711487 51711488 51711488 upstr_intron -43 -0.736842105263158 CACTGTAGAAAAAACATATAAAAACATTTAATTTTTTATAAAATCCTATTCCTACAGGATAAAAGGGAAATTGAAGCATCGCTGACTCTTGGATTGACCATGAGGGGAATACAGATTTTTCAGGTTGGTAAATGAGAATTGTGTCAAATGCTGTCAGCCATGTCTTCTGT CACTGTAGAAAAAATATATAAAAACATTTAATTTTTTATAAAATCCTATTCCTACAGGATAAAAGGGAAATTGAAGCATCGCTGACTCTTGGATTGACCATGAGGGGAATACAGATTTTTCAGGTTGGTAAATGAGAATTGTGTCAAATGCTGTCAGCCATGTCTTCTGT mutant NA NA NA NA NA 1628 160 1 0.999042868091705 0.999521434045852 NA NA 0.905523968423667 0.990787222796978 NA NA 0.0944760315763326 0.00825564529472689 NA 0.948155595610323 NA 0.0513658384355297 NA FALSE NA 0.038 0.691 . intron_variant MODIFIER FRMD6 HGNC 19839 ENST00000554167 5/11 1 NA ATA T,C 8.497e-06 14:51711488 FRMD6 HGNC Symbol protein_coding 241627 ENSG00000139926 ENSE00003595226 intron_variant 0.218185 0.21901 0.14549 0.078485 0.732527781507856 0.0436289 0.438403934830725 FALSE 4.97235e-06 ENSE00001002137_000 ENSE00001002137 000 3 71037107 71037276 - 38 84 48 NA NA NA NA NA GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 NA NA NA NA NA NA CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC natural 57 21 0.997043407192679 0.976504608476247 0.986774007834463 3204 3390 0.986028051267568 0.952621416445309 0.969324733856439 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 0 0 0 0 0.986774007834463 0.969324733856439 0 0 0 FALSE FALSE NA NA NA NA NA FOXP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOXP1 NA NA NA ENSG00000114861 ENSE00001002137 NA NA NA NA NA NA NA 0.999750735055125 TRUE NA ENSE00001002137_001 ENSE00001002137 001 3 71037107 71037276 - 38 84 48 T C 71037119 2058 158 GTTTTGTTTTTTCCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70987967 70987968 70987968 downstr_intron 26 1.7027027027027 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGGAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 644 184 0.997202630339531 1 0.998601315169765 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0111745790719628 0.047378583554691 0.986774007834463 0.969324733856439 NA 0.0292765813133269 NA FALSE NA 0 -0.675 . intron_variant MODIFIER FOXP1 HGNC 3823 ENST00000491238 9/15 1 NA TTC T,C 1.647e-05 3:70987968 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 intron_variant 0.19031 0.14333 0.02053 0.088506 0.429109433020241 0.046875 0.999750735055125 TRUE 2.03345e-05 ENSE00001002137_002 ENSE00001002137 002 3 71037107 71037276 - 38 84 48 C T 71037122 2059 155 GTTTTGTTTTTTTCCTCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70987970 70987971 70987971 downstr_intron 23 1.62162162162162 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGAGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 180 55 1 1 1 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.047378583554691 0.986774007834463 0.969324733856439 NA 0.0306752661435615 NA FALSE NA 0 0.083 . intron_variant MODIFIER FOXP1 HGNC 3823 ENST00000491238 9/15 rs376054146 1 NA T:0 T:0.0001 CCC C,T 1.647e-05 3:70987971 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 intron_variant 0.23897 0.21951 0.07985 0.088506 0.618362318850861 0.0870264 0.999750735055125 TRUE 2.03391e-05 ENSE00001002137_003 ENSE00001002137 003 3 71037107 71037276 - 38 84 48 C G 71037123 2060 154 GTTTTGTTTTTTTCCCGTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70987971 70987972 70987972 downstr_intron 22 1.59459459459459 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAACGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 1030 104 0.994725392753255 0.998476246039539 0.996600819396397 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.00869734148568724 0.0458548295942304 0.986774007834463 0.969324733856439 NA 0.0272760855399588 NA FALSE NA 0 0.496 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:70987972 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 intron_variant 0.026404 0.23615 0.21532 0.088506 0.488748141826133 0.0870264 0.999750735055125 TRUE 4.06716e-06 ENSE00001002137_004 ENSE00001002137 004 3 71037107 71037276 - 38 84 48 C T 71037123 2061 154 GTTTTGTTTTTTTCCCTTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70987971 70987972 70987972 downstr_intron 22 1.59459459459459 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAAGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 373 868 0.998445047568787 1 0.999222523784393 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0124169963012185 0.047378583554691 0.986774007834463 0.969324733856439 NA 0.0298977899279548 NA FALSE NA 0 0.496 NA NA NA FOXP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOXP1 NA NA NA ENSG00000114861 ENSE00001002137 intron_variant 0.123801 0.20437 0.09548 0.088506 0.594422216729355 0.0870264 0.999750735055125 TRUE 4.06716e-06 ENSE00001002137_005 ENSE00001002137 005 3 71037107 71037276 - 38 84 48 G C 71037126 2062 151 GTTTTGTTTTTTTCCCCTTCGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70987974 70987975 70987975 downstr_intron 19 1.51351351351351 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACGAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 183 87 1 1 1 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.047378583554691 0.986774007834463 0.969324733856439 NA 0.0306752661435615 NA FALSE NA 0 -0.4 rs140060227 intron_variant MODIFIER FOXP1 HGNC 3823 ENST00000491238 9/15 rs140060227 1 C:0.0028 C:0.0106 C:0 NA C:0 C:0 C:0 C:0.0068 C:0 TGG G,C 0.000766 3:70987975 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 intron_variant -0.340698 0.24633 0.15288 0.088506 0.371353471244805 0.165548 0.999750735055125 TRUE 0.000557119 ENSE00001002137_006 ENSE00001002137 006 3 71037107 71037276 - 38 84 48 G A 71037131 2063 146 GTTTTGTTTTTTTCCCCTTGGTGGAGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70987979 70987980 70987980 downstr_intron 14 1.37837837837838 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCTCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 362 747 1 0.999591386845595 0.999795693422797 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.0469699704002856 0.986774007834463 0.969324733856439 NA 0.0304709595663588 NA FALSE NA 0.195 0.972 . intron_variant MODIFIER FOXP1 HGNC 3823 ENST00000491238 9/15 1 NA GGG G,A 8.237e-05 3:70987980 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 intron_variant 0.224827 0.22813 0.10928 0.088506 0.497540481385375 0.165548 0.999750735055125 TRUE 9.34944e-05 ENSE00001002137_007 ENSE00001002137 007 3 71037107 71037276 - 38 84 48 G A 71037145 2064 132 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACAGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70987993 70987994 70987994 exon -1 1 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCTGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 1102 1123 0.999663416306042 0.998352354501875 0.999007885403959 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.013635365038474 0.0457309380565664 0.986774007834463 0.969324733856439 NA 0.0296831515475202 NA FALSE NA 0.985 0.245 . splice_region_variant&synonymous_variant LOW FOXP1 HGNC 3823 ENST00000491238 9/16 rs372765119 1 NA A:0.0002 A:0 CGG G,A 0.0001235 3:70987994 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 splice_region_variant 1.115826 0.96282 0.75586 0.732398 0.666432893838426 0 0.999750735055125 TRUE 0.000146302 ENSE00001002137_008 ENSE00001002137 008 3 71037107 71037276 - 38 84 48 A C 71037151 2065 126 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGCGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70987999 70988000 70988000 exon -7 0.928571428571429 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCGCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 409 321 0.998378872009334 0.981837157780484 0.990108014894909 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.012350820741766 0.0292157413351755 0.986774007834463 0.969324733856439 NA 0.0207832810384707 NA FALSE NA 1 2.076 . synonymous_variant LOW FOXP1 HGNC 3823 ENST00000491238 9/16 1 NA GAG A,C 8.236e-06 3:70988000 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 synonymous_variant -0.136432 0.98266 0.92558 0.732398 0.799125692107302 0 0.999750735055125 TRUE 4.06329e-06 ENSE00001002137_009 ENSE00001002137 009 3 71037107 71037276 - 38 84 48 G A 71037155 2066 122 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGACGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70988003 70988004 70988004 exon -11 0.880952380952381 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGTCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 824 1670 0.877743710916045 0.745808812638428 0.811776261777236 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA -0.108284340351524 -0.206812603806881 0.986774007834463 0.969324733856439 NA -0.157548472079202 NA FALSE NA 1 7.514 . missense_variant MODERATE FOXP1 HGNC 3823 ENST00000491238 9/16 1 tolerated(0.29) benign(0.071) NA GGC G,A 8.236e-06 3:70988004 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 missense_variant 3.553305 0.99554 0.99226 0.732398 0.99638388593643 0 0.999750735055125 TRUE 4.06345e-06 ENSE00001002137_010 ENSE00001002137 010 3 71037107 71037276 - 38 84 48 C T 71037156 2067 121 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGTGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70988004 70988005 70988005 exon -12 0.869047619047619 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCACCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 512 212 0.996506851636694 0.993061736406263 0.994784294021479 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0104788003691261 0.0404403199609545 0.986774007834463 0.969324733856439 NA 0.0254595601650403 NA FALSE NA 0.973 0.777 rs149759021 missense_variant MODERATE FOXP1 HGNC 3823 ENST00000491238 9/16 rs149759021 1 tolerated(0.67) benign(0.004) NA T:0.0005 T:0 GCG C,T 4.118e-05 3:70988005 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 missense_variant 3.145053 0.97314 0.76466 0.732398 0.956199492432848 0 0.999750735055125 TRUE 3.25082e-05 ENSE00001002137_013 ENSE00001002137 013 3 71037107 71037276 - 38 84 48 T C 71037169 2070 108 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCCGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70988017 70988018 70988018 exon -25 0.714285714285714 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACGGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 89 272 1 1 1 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.047378583554691 0.986774007834463 0.969324733856439 NA 0.0306752661435615 NA FALSE NA 0.001 -1.486 . synonymous_variant LOW FOXP1 HGNC 3823 ENST00000491238 9/16 1 NA CTG T,C 8.236e-06 3:70988018 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 synonymous_variant 0.194145 0.94716 0.17293 0.732398 0.672168601523634 0 0.999750735055125 TRUE 4.0627e-06 ENSE00001002137_014 ENSE00001002137 014 3 71037107 71037276 - 38 84 48 C T 71037205 2071 72 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGTAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70988053 70988054 70988054 exon 24 0.285714285714286 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTACAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 88 1135 1 1 1 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.047378583554691 0.986774007834463 0.969324733856439 NA 0.0306752661435615 NA FALSE NA 1 1.12 . synonymous_variant LOW FOXP1 HGNC 3823 ENST00000491238 9/16 1 NA GCA C,T 8.236e-06 3:70988054 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 synonymous_variant 1.433554 0.97941 0.87605 0.732398 0.746186360639182 0 0.999750735055125 TRUE NA ENSE00001002137_015 ENSE00001002137 015 3 71037107 71037276 - 38 84 48 G A 71037210 2072 67 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCATTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70988058 70988059 70988059 exon 19 0.226190476190476 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAATGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 431 931 1 0.959850894195878 0.979925447097939 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.0072294777505687 0.986774007834463 0.969324733856439 NA 0.0106007132415003 NA FALSE NA 1 9.477 . missense_variant MODERATE FOXP1 HGNC 3823 ENST00000491238 9/16 1 deleterious(0) probably_damaging(0.972) NA CGT G,A 8.236e-06 3:70988059 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 missense_variant 8.183662 0.99468 0.99367 0.732398 0.999350860059228 0 0.999750735055125 TRUE 8.1281e-06 ENSE00001002137_016 ENSE00001002137 016 3 71037107 71037276 - 38 84 48 C T 71037233 2073 44 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGTAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70988081 70988082 70988082 upstr_intron -5 -0.0833333333333333 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTACCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 221 126 1 0.997481292092871 0.998740646046436 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.0448598756475624 0.986774007834463 0.969324733856439 NA 0.0294159121899972 NA FALSE NA 0 -0.449 . splice_region_variant&intron_variant LOW FOXP1 HGNC 3823 ENST00000491238 8/15 rs367770797 1 NA T:0 T:0.0001 GCA C,T 8.236e-06 3:70988082 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 splice_region_variant -0.939486 0.07418 0.00619 0.099367 0.459071995513075 0.232579 0.999750735055125 TRUE 1.21948e-05 ENSE00001002137_017 ENSE00001002137 017 3 71037107 71037276 - 38 84 48 G A 71037236 2074 41 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAAAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70988084 70988085 70988085 upstr_intron -8 -0.145833333333333 CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTTTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 244 173 1 1 1 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.047378583554691 0.986774007834463 0.969324733856439 NA 0.0306752661435615 NA FALSE NA 0.178 0.471 . splice_region_variant&intron_variant LOW FOXP1 HGNC 3823 ENST00000491238 8/15 1 NA AGA G,A 8.236e-06 3:70988085 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 splice_region_variant -0.312057 0.25035 0.20509 0.088506 0.272421844407158 0.169835 0.999750735055125 TRUE 2.03232e-05 ENSE00001002137_018 ENSE00001002137 018 3 71037107 71037276 - 38 84 48 T C 71037244 2075 33 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAACGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 70988092 70988093 70988093 upstr_intron -16 -0.3125 CCATGCATCTTTATTCAGAGAAATAACAAAGCGTTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 433 686 1 0.996383338361562 0.998191669180781 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.0437619219162528 0.986774007834463 0.969324733856439 NA 0.0288669353243424 NA FALSE NA 0.045 0.265 . intron_variant MODIFIER FOXP1 HGNC 3823 ENST00000491238 8/15 1 NA ATG T,C 8.236e-06 3:70988093 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 intron_variant 1.922457 0.97392 0.36343 0.088506 0.759842783749257 0.258031 0.999750735055125 TRUE 8.13035e-06 ENSE00001002137_019 ENSE00001002137 019 3 71037107 71037276 - 38 84 48 C T 71037259 2076 18 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTTTGAATAAAGATGCATGG 70987955 70988125 70988107 70988108 70988108 upstr_intron -31 -0.625 CCATGCATCTTTATTCAAAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 97 222 1 0.956732251434385 0.978366125717192 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.0139719487324319 0.00411083498907561 0.986774007834463 0.969324733856439 NA 0.00904139186075376 NA FALSE NA 0.178 -0.324 . intron_variant MODIFIER FOXP1 HGNC 3823 ENST00000491238 8/15 1 NA TCT C,T 8.236e-06 3:70988108 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 intron_variant 1.025791 0.22603 0.04527 0.088506 0.637135877012041 0.182839 0.999750735055125 TRUE 4.06726e-06 ENSE00001002137_020 ENSE00001002137 020 3 71037107 71037276 - 38 84 48 T A 71037264 2077 13 GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAAAAAAGATGCATGG 70987955 70988125 70988112 70988113 70988113 upstr_intron -36 -0.729166666666667 CCATGCATCTTTTTTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC mutant NA NA NA NA NA 995 486 0.99966864821944 1 0.99983432410972 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA 0.013640596951872 0.047378583554691 0.986774007834463 0.969324733856439 NA 0.0305095902532815 NA FALSE NA 1 1.518 . intron_variant MODIFIER FOXP1 HGNC 3823 ENST00000491238 8/15 rs372013446 1 NA A:0.0002 A:0 ATA T,A 8.236e-06 3:70988113 FOXP1 HGNC Symbol protein_coding 631176 ENSG00000114861 ENSE00001002137 intron_variant 0.839008 0.8596 0.58584 0.088506 0.709182646789445 0.167834 0.999750735055125 TRUE 1.62713e-05 ENSE00001002137_BRK ENSE00001002137 BRK 3 71037107 71037276 - 38 84 48 A,G; T,T NA NA NA GTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTGGGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGAAGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGG 70987955 70988125 NA NA NA NA NA NA CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCTTCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCCCAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC CCATGCATCTTTATTCAGAGAAATAACAAAGCATTTTCTTCTTGCCAGCTTGCAAAAGACAAAGAACGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCTCAGCCCGTAAGTATTGATCCCCACCAAGGGGAAAAAAACAAAAC control NA NA NA NA NA 803 596 0.0421196971152175 0.00409451995160997 0.0231071085334138 0.997043407192679 0.976504608476247 0.986028051267568 0.952621416445309 NA NA -0.943908354152351 -0.948526896493699 0.986774007834463 0.969324733856439 NA -0.946217625323025 NA TRUE NA NA NA NA NA NA FOXP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOXP1 NA NA NA ENSG00000114861 ENSE00001002137 NA NA NA NA NA NA NA 0.999750735055125 TRUE NA ENSE00001002293_000 ENSE00001002293 000 10 120466972 120467141 - 32 96 42 NA NA NA NA NA CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATATAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCTTCCTCCTTCCCAAATA 118707459 118707629 NA NA NA NA NA NA CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATATAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCTTCCTCCTTCCCAAATA CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATATAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCTTCCTCCTTCCCAAATA natural NA NA NA NA NA 544 3130 0.996389284446566 0.98982158469705 0.993105434571808 NA NA 0.996389284446566 0.98982158469705 NA NA 0 0 NA 0.993105434571808 NA 0 NA FALSE NA NA NA NA NA NA CACUL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACUL1 NA NA NA ENSG00000151893 ENSE00003678955 NA NA NA NA NA NA NA 0.84668696675278 FALSE NA ENSE00001002293_001 ENSE00001002293 001 10 120466972 120467141 - 32 96 42 A C 120466988 2705 154 CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATATAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCGTCCTCCTTCCCAAATA 118707459 118707629 118707475 118707476 118707476 downstr_intron 16 1.51612903225806 CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATATAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCGTCCTCCTTCCCAAATA CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATATAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCTTCCTCCTTCCCAAATA mutant NA NA NA NA NA 72 18 1 1 1 NA NA 0.996389284446566 0.98982158469705 NA NA 0.00361071555343406 0.0101784153029505 NA 0.993105434571808 NA 0.00689456542819228 NA FALSE NA 0 0.231 . intron_variant&non_coding_transcript_variant MODIFIER CACUL1 HGNC 23727 ENST00000481360 1/2 1 NA AAG A,C 8.278e-06 10:118707476 CACUL1 HGNC Symbol protein_coding 81082 ENSG00000151893 ENSE00003678955 intron_variant -0.121805 0.17543 0.035 0.162113 0.348044353097262 0.0851739 0.84668696675278 FALSE 1.67002e-05 ENSE00001002293_006 ENSE00001002293 006 10 120466972 120467141 - 32 96 42 A G 120467062 2710 80 CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATACAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCTTCCTCCTTCCCAAATA 118707459 118707629 118707549 118707550 118707550 exon 38 0.395833333333333 CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATACAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCTTCCTCCTTCCCAAATA CCTGGTTTCCCAGATTGATCACACTTCTGTTCTTTCTCACAGGCCAGCCCTCCAGATCTCTATATTGAAAGATTTAATATAGCTCTTGGACAATATATGGGAGCATTGCAGAGCATTGTGCCTCTTTTCATATATATGGTAAGTAAGAGCTCCTTCCTCCTTCCCAAATA mutant NA NA NA NA NA 113 776 1 0.996440213278888 0.998220106639444 NA NA 0.996389284446566 0.98982158469705 NA NA 0.00361071555343406 0.00661862858183881 NA 0.993105434571808 NA 0.00511467206763644 NA FALSE NA 1 3.369 . upstream_gene_variant MODIFIER CACUL1 HGNC 23727 ENST00000481360 1 NA TAT A,G 8.279e-06 10:118707550 CACUL1 HGNC Symbol protein_coding 81082 ENSG00000151893 ENSE00003678955 missense_variant 2.064333 0.9864 0.92144 0.706298 0.949502387232374 0 0.84668696675278 FALSE 1.22267e-05 ENSE00001002329_000 ENSE00001002329 000 4 151246926 151247095 - 35 90 45 NA NA NA NA NA TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 NA NA NA NA NA NA TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT natural 24 24 0.997896903283458 0.996010487068667 0.996953695176062 1160 2073 0.995811141245883 0.998646088474426 0.997228614860154 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 0 0 0 0 0.996953695176062 0.997228614860154 0 0 0 FALSE FALSE NA NA NA NA NA LRBA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRBA NA NA NA ENSG00000198589 ENSE00003626043 NA NA NA NA NA NA NA 0.0442294366134414 FALSE NA ENSE00001002329_001 ENSE00001002329 001 4 151246926 151247095 - 35 90 45 T C 151246936 1589 160 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCGTTTCTTGCCT 150325773 150325943 150325783 150325784 150325784 downstr_intron 25 1.73529411764706 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCGTTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT mutant NA NA NA NA NA 523 1135 1 0.997583251925086 0.998791625962543 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 NA NA 0.00418885875411734 -0.00106283654933936 0.996953695176062 0.997228614860154 NA 0.00156301110238899 NA FALSE NA 0 -0.91 . intron_variant&non_coding_transcript_variant MODIFIER LRBA HGNC 1742 ENST00000503716 10/17 rs533937726 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATG T,C 8.238e-06 4:150325784 LRBA HGNC Symbol protein_coding 751196 ENSG00000198589 ENSE00003626043 intron_variant -0.009556 0.11077 0.04446 0.360877 0.485886121394024 0.0532412 0.0442294366134414 FALSE 4.08958e-06 ENSE00001002329_004 ENSE00001002329 004 4 151246926 151247095 - 35 90 45 C T 151246963 1592 133 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAATGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 150325810 150325811 150325811 exon -3 0.977777777777778 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAATGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT mutant NA NA NA NA NA 87 410 0.9946776487094 1 0.9973388243547 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 NA NA -0.00113349253648243 0.00135391152557429 0.996953695176062 0.997228614860154 NA 0.000110209494545932 NA FALSE NA 1 3.977 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW LRBA HGNC 1742 ENST00000503716 10/18 rs369175165 1 NA T:0.0002 T:0 ACT C,T 8.238e-06 4:150325811 LRBA HGNC Symbol protein_coding 751196 ENSG00000198589 ENSE00003626043 missense_variant 3.346672 0.99187 0.94484 0.706298 0.979184094779428 0 0.0442294366134414 FALSE 4.08113e-06 ENSE00001002329_010 ENSE00001002329 010 4 151246926 151247095 - 35 90 45 A T 151247001 1598 95 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACACATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 150325848 150325849 150325849 exon -41 0.555555555555556 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACACATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT mutant NA NA NA NA NA 62 410 1 0.997645174436112 0.998822587218056 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 NA NA 0.00418885875411734 -0.00100091403831382 0.996953695176062 0.997228614860154 NA 0.00159397235790176 NA FALSE NA 1 9.285 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LRBA HGNC 1742 ENST00000503716 10/18 1 NA GAG A,T 8.238e-06 4:150325849 LRBA HGNC Symbol protein_coding 751196 ENSG00000198589 ENSE00003626043 missense_variant 6.440919 0.99565 0.99141 0.706298 0.98041278172408 0 0.0442294366134414 FALSE 4.08103e-06 ENSE00001002329_011 ENSE00001002329 011 4 151246926 151247095 - 35 90 45 T A 151247003 1599 93 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTTCTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 150325850 150325851 150325851 exon -43 0.533333333333333 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTTCTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT mutant NA NA NA NA NA 478 69 0.998352615335283 1 0.999176307667642 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 NA NA 0.00254147408940075 0.00135391152557429 0.996953695176062 0.997228614860154 NA 0.00194769280748752 NA FALSE NA 0.065 -0.481 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LRBA HGNC 1742 ENST00000503716 10/18 1 NA GTA T,A 8.238e-06 4:150325851 LRBA HGNC Symbol protein_coding 751196 ENSG00000198589 ENSE00003626043 synonymous_variant 1.613864 0.9267 0.20028 0.706298 0.644569946883124 0 0.0442294366134414 FALSE 4.08103e-06 ENSE00001002329_013 ENSE00001002329 013 4 151246926 151247095 - 35 90 45 G A 151247010 1601 86 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTTTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 150325857 150325858 150325858 exon 41 0.455555555555556 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTTTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT mutant NA NA NA NA NA 200 39 1 1 1 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 NA NA 0.00418885875411734 0.00135391152557429 0.996953695176062 0.997228614860154 NA 0.00277138513984582 NA FALSE NA 1 4.789 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LRBA HGNC 1742 ENST00000503716 10/18 1 NA AGA G,A 8.238e-06 4:150325858 LRBA HGNC Symbol protein_coding 751196 ENSG00000198589 ENSE00003626043 missense_variant 6.812099 0.99435 0.96358 0.706298 0.998567252893225 0 0.0442294366134414 FALSE 4.082e-06 ENSE00001002329_016 ENSE00001002329 016 4 151246926 151247095 - 35 90 45 T C 151247037 1604 59 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCGAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 150325884 150325885 150325885 exon 14 0.155555555555556 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCGAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT mutant NA NA NA NA NA 383 46 1 1 1 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 NA NA 0.00418885875411734 0.00135391152557429 0.996953695176062 0.997228614860154 NA 0.00277138513984582 NA FALSE NA 1 7.994 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LRBA HGNC 1742 ENST00000503716 10/18 rs369733391 1 NA C:0 C:0.0001 TTG T,C 8.24e-06 4:150325885 LRBA HGNC Symbol protein_coding 751196 ENSG00000198589 ENSE00003626043 missense_variant 5.991776 0.98078 0.93627 0.706298 0.998936075694261 0 0.0442294366134414 FALSE 4.09055e-06 ENSE00001002329_017 ENSE00001002329 017 4 151246926 151247095 - 35 90 45 G C 151247049 1605 47 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGGTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 150325896 150325897 150325897 exon 2 0.0222222222222222 TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGGTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT mutant NA NA NA NA NA 30 398 1 0.994969415113476 0.997484707556738 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 NA NA 0.00418885875411734 -0.00367667336094979 0.996953695176062 0.997228614860154 NA 0.000256092696583776 NA FALSE NA 1 6.506 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW LRBA HGNC 1742 ENST00000503716 10/18 rs542791563 1 C:0.0008 C:0 C:0 NA C:0 C:0 C:0.0041 AGC G,C 0.000173 4:150325897 LRBA HGNC Symbol protein_coding 751196 ENSG00000198589 ENSE00003626043 missense_variant 2.538303 0.97764 0.92351 0.706298 0.984602249477746 0 0.0442294366134414 FALSE 0.000193091 ENSE00001002329_022 ENSE00001002329 022 4 151246926 151247095 - 35 90 45 G C 151247083 1610 13 TAATTAGCACCTGTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 150325930 150325931 150325931 upstr_intron -33 -0.711111111111111 TAATTAGCACCTGTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT mutant NA NA NA NA NA 110 124 1 1 1 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 NA NA 0.00418885875411734 0.00135391152557429 0.996953695176062 0.997228614860154 NA 0.00277138513984582 NA FALSE NA 1 4.4 rs188321395 intron_variant&non_coding_transcript_variant MODIFIER LRBA HGNC 1742 ENST00000503716 9/17 rs188321395 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 AGA G,C 8.25e-06 4:150325931 LRBA HGNC Symbol protein_coding 751196 ENSG00000198589 ENSE00003626043 intron_variant 1.394701 0.95773 0.91908 0.086534 0.65531127768504 0.375086 0.0442294366134414 FALSE 8.76002e-06 ENSE00001002329_BRK ENSE00001002329 BRK 4 151246926 151247095 - 35 90 45 A,G; T,T NA NA NA TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCTTGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGCCAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT 150325773 150325943 NA NA NA NA NA NA TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCTTGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGCCAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT TAATTAGCACCTCTTAACCTTCAGACTTGCCCCTGCCCTTTTCAGGCTGTTGAAGCTCAAATCCGAAGTTTTGGACAGACTCCTTCTCAACTACTCATAGAGCCCCATCCTCCCAGAGGTTCTGCCATGCAAGTGGTAAGTGCTATTTTTACTCTCCTCATTTCTTGCCT control 29 62 0 0 0 232 129 0.0563153622287081 0 0.028157681114354 0.997896903283458 0.996010487068667 0.995811141245883 0.998646088474426 -0.997896903283458 -0.996010487068667 -0.939495779017175 -0.998646088474426 0.996953695176062 0.997228614860154 -0.996953695176062 -0.9690709337458 0.0278827614302624 TRUE TRUE NA NA NA NA NA LRBA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRBA NA NA NA ENSG00000198589 ENSE00003626043 NA NA NA NA NA NA NA 0.0442294366134414 FALSE NA ENSE00001002968_000 ENSE00001002968 000 1 145498052 145498221 + 51 78 41 NA NA NA NA NA TTGTGCTCCCCTCATTCGCCCCCACTCATAAAATCTCTTACCTGCCGAGAGCATTGTCGTTCCCTCATGGCCTTAAGGCTGCCATTCCAGTGTAGCAGTTGAAAAACTGTCATTAGCTCCTGGGGGAAGAGGATAGGAAGTACCAGGACAGTGATTTTTATATTGGGAGG 145936866 145937036 NA NA NA NA NA NA CCTCCCAATATAAAAATCACTGTCCTGGTACTTCCTATCCTCTTCCCCCAGGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGCCTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGGTAAGAGATTTTATGAGTGGGGGCGAATGAGGGGAGCACAA CCTCCCAATATAAAAATCACTGTCCTGGTACTTCCTATCCTCTTCCCCCAGGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGCCTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGGTAAGAGATTTTATGAGTGGGGGCGAATGAGGGGAGCACAA natural NA NA NA NA NA 1118 454 1 0.996851777816321 0.998425888908161 NA NA 1 0.996851777816321 NA NA 0 0 NA 0.998425888908161 NA 0 NA FALSE NA NA NA NA NA NA RP11-315I20.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIX1L-AS1 NA NA NA ENSG00000234222 NA NA NA NA NA NA NA NA NA NA NA ENSE00001002968_BRK ENSE00001002968 BRK 1 145498052 145498221 + 51 78 41 A,G; T,T NA NA NA TTGTGCTCCCCTCATTCGCCCCCACTCATAAAATCTCTTGGCTGCCGAGAGCATTGTCGTTCCCTCATGGCCTTAAGGCTGCCATTCCAGTGTAGCAGTTGAAAAACTGTCATTAGCTCAAGGGGGAAGAGGATAGGAAGTACCAGGACAGTGATTTTTATATTGGGAGG 145936866 145937036 NA NA NA NA NA NA CCTCCCAATATAAAAATCACTGTCCTGGTACTTCCTATCCTCTTCCCCCTTGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGCCTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGCCAAGAGATTTTATGAGTGGGGGCGAATGAGGGGAGCACAA CCTCCCAATATAAAAATCACTGTCCTGGTACTTCCTATCCTCTTCCCCCAGGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGCCTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGGTAAGAGATTTTATGAGTGGGGGCGAATGAGGGGAGCACAA control 29 15 0 0 0 NA NA NA NA NA NA NA 1 0.996851777816321 NA NA NA NA NA 0.998425888908161 NA NA NA NA NA NA NA NA NA NA RP11-315I20.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIX1L-AS1 NA NA NA ENSG00000234222 NA NA NA NA NA NA NA NA NA NA NA ENSE00001003610_000 ENSE00001003610 000 5 171491691 171491860 - 33 93 44 NA NA NA NA NA CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGCGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 NA NA NA NA NA NA GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG natural 52 89 0.998372263409438 0.996870742667118 0.997621503038278 1641 1480 0.990723930510085 0.814669368762224 0.902696649636154 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 0 0 0 0 0.997621503038278 0.902696649636154 0 0 0 FALSE FALSE NA NA NA NA NA STK10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK10 NA NA NA ENSG00000072786 ENSE00001003610 NA NA NA NA NA NA NA 1.50167370249254e-07 FALSE NA ENSE00001003610_001 ENSE00001003610 001 5 171491691 171491860 - 33 93 44 C A 171491703 2310 158 CCCTGCGCTCCCAAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGCGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064698 172064699 172064699 downstr_intron 21 1.65625 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTTGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 91 142 1 1 1 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA 0.00927606948991488 0.185330631237776 0.997621503038278 0.902696649636154 NA 0.0973033503638456 NA FALSE NA 0 -0.951 . upstream_gene_variant MODIFIER STK10 HGNC 11388 ENST00000519269 rs372930215 1 NA A:0 A:0.0001 CCA C,A 1.647e-05 5:172064699 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 non_coding_transcript_exon_variant 0.098353 0.10886 0.05548 0.256867 0.779137819180803 0.0517213 1.50167370249254e-07 FALSE 8.12592e-06 ENSE00001003610_004 ENSE00001003610 004 5 171491691 171491860 - 33 93 44 T A 171491736 2313 125 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTATTCTGCGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064731 172064732 172064732 exon -13 0.870967741935484 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAATAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 191 69 1 1 1 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA 0.00927606948991488 0.185330631237776 0.997621503038278 0.902696649636154 NA 0.0973033503638456 NA FALSE NA 0.001 -1.654 . upstream_gene_variant MODIFIER STK10 HGNC 11388 ENST00000519269 1 NA TTT T,A 8.236e-06 5:172064732 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 missense_variant 2.207127 0.88901 0.19872 0.706298 0.99503476618889 0 1.50167370249254e-07 FALSE 8.12242e-06 ENSE00001003610_005 ENSE00001003610 005 5 171491691 171491860 - 33 93 44 T C 171491737 2314 124 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTCTCTGCGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064732 172064733 172064733 exon -14 0.860215053763441 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAGAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 140 317 0.967849040856637 1 0.983924520428318 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA -0.0228748896534484 0.185330631237776 0.997621503038278 0.902696649636154 NA 0.081227870792164 NA FALSE NA 0.863 1.049 . upstream_gene_variant MODIFIER STK10 HGNC 11388 ENST00000519269 1 NA TTT T,C 9.06e-05 5:172064733 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 missense_variant 1.777318 0.96725 0.84905 0.706298 0.990367841616909 0 1.50167370249254e-07 FALSE 0.000113713 ENSE00001003610_007 ENSE00001003610 007 5 171491691 171491860 - 33 93 44 C G 171491742 2316 119 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGGGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064737 172064738 172064738 exon -19 0.806451612903226 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACCCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 26 90 1 1 1 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA 0.00927606948991488 0.185330631237776 0.997621503038278 0.902696649636154 NA 0.0973033503638456 NA FALSE NA 0 -6.238 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:172064738 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 synonymous_variant 0.743471 0.07732 0.01717 0.706298 0.403495946731665 0 1.50167370249254e-07 FALSE 4.06154e-05 ENSE00001003610_008 ENSE00001003610 008 5 171491691 171491860 - 33 93 44 G A 171491743 2317 118 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGCATGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064738 172064739 172064739 exon -20 0.795698924731183 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACATGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 11 494 0.823089689077118 0.997249287542658 0.910169488309888 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA -0.167634241432967 0.182579918780434 0.997621503038278 0.902696649636154 NA 0.00747283867373344 NA FALSE NA 0.013 1.779 NA NA NA STK10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:172064739 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 missense_variant 1.679199 0.277 0.21504 0.706298 0.995575699467977 0 1.50167370249254e-07 FALSE 2.4371e-05 ENSE00001003610_010 ENSE00001003610 010 5 171491691 171491860 - 33 93 44 T G 171491749 2319 112 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGCGTGTGCGCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064744 172064745 172064745 exon -26 0.731182795698925 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGCGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 482 14 0.998539422169255 0.988532060410614 0.993535741289934 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA 0.00781549165916939 0.17386269164839 0.997621503038278 0.902696649636154 NA 0.0908390916537799 NA FALSE NA 1 5.251 . upstream_gene_variant MODIFIER STK10 HGNC 11388 ENST00000519269 1 NA CTC T,G 8.236e-06 5:172064745 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 missense_variant 2.786029 0.9862 0.95172 0.706298 0.981403800758479 0 1.50167370249254e-07 FALSE 1.2184e-05 ENSE00001003610_012 ENSE00001003610 012 5 171491691 171491860 - 33 93 44 T C 171491756 2321 105 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGCGTGTGCTCCTCCACCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064751 172064752 172064752 exon -33 0.655913978494624 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGGTGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 34 137 1 1 1 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA 0.00927606948991488 0.185330631237776 0.997621503038278 0.902696649636154 NA 0.0973033503638456 NA FALSE NA 1 3.47 . upstream_gene_variant MODIFIER STK10 HGNC 11388 ENST00000519269 rs367724546 1 NA C:0 C:0.0001 ATC T,C 5.765e-05 5:172064752 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 missense_variant 1.793476 0.97263 0.96645 0.706298 0.992550552789183 0 1.50167370249254e-07 FALSE 7.31036e-05 ENSE00001003610_016 ENSE00001003610 016 5 171491691 171491860 - 33 93 44 G T 171491780 2325 81 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGCGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCTCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064775 172064776 172064776 exon 37 0.397849462365591 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGAGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 11 155 1 1 1 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA 0.00927606948991488 0.185330631237776 0.997621503038278 0.902696649636154 NA 0.0973033503638456 NA FALSE NA 1 3.153 NA NA NA STK10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:172064776 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 synonymous_variant 1.596624 0.98987 0.95996 0.706298 0.773359194021213 0 1.50167370249254e-07 FALSE 4.06289e-06 ENSE00001003610_021 ENSE00001003610 021 5 171491691 171491860 - 33 93 44 T G 171491809 2330 52 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGCGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGGTCTTCACCTGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064804 172064805 172064805 exon 8 0.0860215053763441 GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGACCGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 218 172 0.997326755194002 0.999110017756007 0.998218386475004 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA 0.00660282468391671 0.184440648993783 0.997621503038278 0.902696649636154 NA 0.0955217368388498 NA FALSE NA 0 -0.155 . upstream_gene_variant MODIFIER STK10 HGNC 11388 ENST00000519269 1 NA GTT T,G 8.236e-06 5:172064805 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 missense_variant 0.638214 0.2394 0.10636 0.706298 0.96515328576725 0 1.50167370249254e-07 FALSE 8.12843e-06 ENSE00001003610_024 ENSE00001003610 024 5 171491691 171491860 - 33 93 44 A G 171491833 2333 28 CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCACAAGAAGCTGCTTTTTCTGCGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACCTGCAGCAGAGACAGCGGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 172064828 172064829 172064829 upstr_intron -17 -0.363636363636364 GGAGAGGACCCTGACCCAGCTACTCTCCGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG mutant NA NA NA NA NA 10 29 1 1 1 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 NA NA 0.00927606948991488 0.185330631237776 0.997621503038278 0.902696649636154 NA 0.0973033503638456 NA FALSE NA 0 0.922 . upstream_gene_variant MODIFIER STK10 HGNC 11388 ENST00000519269 rs376894266 1 NA G:0 G:0.0001 CAG A,G 4.118e-05 5:172064829 STK10 HGNC Symbol protein_coding 146313 ENSG00000072786 ENSE00001003610 intron_variant -0.015769 0.19945 0.06761 0.069865 0.574584607146766 0.125805 1.50167370249254e-07 FALSE 4.47558e-05 ENSE00001003610_BRK ENSE00001003610 BRK 5 171491691 171491860 - 33 93 44 A,G; T,T NA NA NA CCCTGCGCTCCCCAGCTGAGGCCAGGGACTCGGAAGAAGCTGCTTTTTCTGCGTGTGCTCCTCCATCTTCTGCTTCATGCTTTCCTTCCGCTGCTGTCGGGGGAGCTTCTCCACCTCGTTCTTCACAAGCAGCAGAGACAGCAGAGAGTAGCTGGGTCAGGGTCCTCTCC 172064686 172064856 NA NA NA NA NA NA GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCTTGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTCCGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG GGAGAGGACCCTGACCCAGCTACTCTCTGCTGTCTCTGCTGCAGGTGAAGAACGAGGTGGAGAAGCTCCCCCGACAGCAGCGGAAGGAAAGCATGAAGCAGAAGATGGAGGAGCACACGCAGAAAAAGCAGCTTCTTGTGAGTCCCTGGCCTCAGCTGGGGAGCGCAGGG control 170 324 0 0 0 NA NA NA NA NA 0.998372263409438 0.996870742667118 0.990723930510085 0.814669368762224 -0.998372263409438 -0.996870742667118 NA NA 0.997621503038278 0.902696649636154 -0.997621503038278 NA NA NA TRUE NA NA NA NA NA STK10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK10 NA NA NA ENSG00000072786 ENSE00001003610 NA NA NA NA NA NA NA 1.50167370249254e-07 FALSE NA ENSE00001004127_000 ENSE00001004127 000 18 43579372 43579541 - 30 99 41 NA NA NA NA NA ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 NA NA NA NA NA NA CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT natural 83 137 0.85 0.778445987978573 0.814222993989287 2638 2698 0.74112134826562 0.79143482437515 0.766278086320385 0.85 0.778445987978573 0.74112134826562 0.79143482437515 0 0 0 0 0.814222993989287 0.766278086320385 0 0 0 FALSE FALSE NA NA NA NA NA PSTPIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSTPIP2 NA NA NA ENSG00000152229 ENSE00003533245 NA NA NA NA NA NA NA 0.107611557288659 FALSE NA ENSE00001004127_002 ENSE00001004127 002 18 43579372 43579541 - 30 99 41 G A 43579396 389 146 ATTTTTCGGGTTGTTAGCCCTCCTAGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999429 45999430 45999430 downstr_intron 6 1.20689655172414 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCTAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 640 2176 0.925448724072414 0.950594090028397 0.938021407050405 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA 0.184327375806794 0.159159265653247 0.814222993989287 0.766278086320385 NA 0.171743320730021 NA FALSE NA 0.024 -0.472 . splice_region_variant&intron_variant LOW PSTPIP2 HGNC 9581 ENST00000409746 7/14 1 NA TGG G,A 2.471e-05 18:45999430 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 splice_region_variant -0.242154 0.16962 0.01101 0.262962 0.499433121043031 0.231489 0.107611557288659 FALSE 1.62472e-05 ENSE00001004127_003 ENSE00001004127 003 18 43579372 43579541 - 30 99 41 C T 43579417 390 125 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTTGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999450 45999451 45999451 exon -16 0.848484848484849 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCAAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 1233 416 0.0173850139586912 0.201726864990998 0.109555939474845 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA -0.723736334306929 -0.589707959384151 0.814222993989287 0.766278086320385 NA -0.65672214684554 NA TRUE NA 0 -2.57 rs143350901 synonymous_variant LOW PSTPIP2 HGNC 9581 ENST00000409746 7/15 rs143350901&COSM3717911&COSM3717910 1 T:0.0008 T:0.0008 T:0 NA T:0.003 T:0 T:0 T:0.0005 T:0 TCG C,T 5.765e-05 18:45999451 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 synonymous_variant 2.088009 0.24628 0.02457 0.706298 0.707905448784601 0 0.107611557288659 FALSE 7.31e-05 ENSE00001004127_004 ENSE00001004127 004 18 43579372 43579541 - 30 99 41 T C 43579430 391 112 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGCTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999463 45999464 45999464 exon -29 0.717171717171717 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAGCCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 357 538 0.8 0.797091632537103 0.798545816268551 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA 0.05887865173438 0.00565680816195313 0.814222993989287 0.766278086320385 NA 0.0322677299481666 NA FALSE NA 0.994 3.125 rs146765792 missense_variant MODERATE PSTPIP2 HGNC 9581 ENST00000409746 7/15 1 tolerated(0.28) benign(0.303) NA GTT T,C 8.236e-06 18:45999464 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 missense_variant 0.921835 0.90021 0.68726 0.706298 0.993678741158695 0 0.107611557288659 FALSE 4.06088e-06 ENSE00001004127_005 ENSE00001004127 005 18 43579372 43579541 - 30 99 41 C A 43579438 392 104 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTACGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999471 45999472 45999472 exon -37 0.636363636363636 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGTAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant 15 33 0 0 0 2851 297 0 0 0 0.85 0.778445987978573 0.74112134826562 0.79143482437515 -0.85 -0.778445987978573 -0.74112134826562 -0.79143482437515 0.814222993989287 0.766278086320385 -0.814222993989287 -0.766278086320385 0.0479449076689018 TRUE TRUE 0.998 0.114 . synonymous_variant LOW PSTPIP2 HGNC 9581 ENST00000409746 7/15 1 NA TCC C,A 3.295e-05 18:45999472 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 synonymous_variant 2.280482 0.86913 0.48838 0.706298 0.579894330424099 0 0.107611557288659 FALSE 4.06091e-05 ENSE00001004127_006 ENSE00001004127 006 18 43579372 43579541 - 30 99 41 C T 43579439 393 103 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCTGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999472 45999473 45999473 exon -38 0.626262626262626 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCAGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 415 372 0.024287497508227 0.00358380439306318 0.0139356509506451 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA -0.716833850757393 -0.787851019982087 0.814222993989287 0.766278086320385 NA -0.75234243536974 NA TRUE NA 1 4.086 . missense_variant MODERATE PSTPIP2 HGNC 9581 ENST00000409746 7/15 1 deleterious(0.01) possibly_damaging(0.67) NA CCG C,T 1.647e-05 18:45999473 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 missense_variant 7.384739 0.94614 0.79702 0.706298 0.999452629218046 0 0.107611557288659 FALSE 1.62438e-05 ENSE00001004127_007 ENSE00001004127 007 18 43579372 43579541 - 30 99 41 G A 43579440 394 102 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCAGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999473 45999474 45999474 exon -39 0.616161616161616 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCTGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 705 66 0.8 0.80977902050274 0.80488951025137 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA 0.05887865173438 0.01834419612759 0.814222993989287 0.766278086320385 NA 0.038611423930985 NA FALSE NA 1 5.317 . missense_variant MODERATE PSTPIP2 HGNC 9581 ENST00000409746 7/15 rs371353196 1 deleterious(0) probably_damaging(0.997) NA A:0.0002 A:0 CGG G,A 2.471e-05 18:45999474 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 missense_variant 7.3012 0.92627 0.77563 0.706298 0.999246577321413 0 0.107611557288659 FALSE 1.21827e-05 ENSE00001004127_009 ENSE00001004127 009 18 43579372 43579541 - 30 99 41 C T 43579446 396 96 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGATGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999479 45999480 45999480 exon -45 0.555555555555556 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCATCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 574 442 0.00104685384289564 0.110156568977026 0.0556017114099606 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA -0.740074494422724 -0.681278255398124 0.814222993989287 0.766278086320385 NA -0.710676374910424 NA TRUE NA 1 2.327 . missense_variant MODERATE PSTPIP2 HGNC 9581 ENST00000409746 7/15 COSM4072302&COSM4072301 1 tolerated(0.12) benign(0.082) NA ACG C,T 8.236e-06 18:45999480 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 missense_variant 3.56066 0.94614 0.72294 0.706298 0.997066250113119 0 0.107611557288659 FALSE 1.21831e-05 ENSE00001004127_013 ENSE00001004127 013 18 43579372 43579541 - 30 99 41 G A 43579473 400 69 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCAGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999506 45999507 45999507 exon 28 0.282828282828283 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCTGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 641 1144 0.850817611723149 0.837892024990638 0.844354818356894 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA 0.109696263457529 0.0464572006154885 0.814222993989287 0.766278086320385 NA 0.0780767320365089 NA FALSE NA 1 1.968 . missense_variant MODERATE PSTPIP2 HGNC 9581 ENST00000409746 7/15 1 deleterious(0) probably_damaging(0.981) NA CGG G,A 8.236e-06 18:45999507 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 missense_variant 7.570648 0.90675 0.67894 0.706298 0.999251086915699 0 0.107611557288659 FALSE 4.06095e-06 ENSE00001004127_015 ENSE00001004127 015 18 43579372 43579541 - 30 99 41 G C 43579482 402 60 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTCCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999515 45999516 45999516 exon 19 0.191919191919192 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGGAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 502 99 0.980864940522444 1 0.990432470261222 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA 0.239743592256824 0.20856517562485 0.814222993989287 0.766278086320385 NA 0.224154383940837 NA FALSE NA 1 7.125 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:45999516 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 missense_variant 5.664714 0.94865 0.89911 0.706298 0.994319270422607 0 0.107611557288659 FALSE 4.06128e-06 ENSE00001004127_016 ENSE00001004127 016 18 43579372 43579541 - 30 99 41 G A 43579482 403 60 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTACTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999515 45999516 45999516 exon 19 0.191919191919192 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGTAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 276 59 0.00507458956470859 0.0118564751886592 0.00846553237668389 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA -0.736046758700911 -0.77957834918649 0.814222993989287 0.766278086320385 NA -0.757812553943701 NA TRUE NA 1 7.125 NA NA NA PSTPIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSTPIP2 NA NA NA ENSG00000152229 ENSE00003533245 stop_gained 12.869102 0.94711 0.88271 0.706298 0.997504185937043 0 0.107611557288659 FALSE 4.06128e-06 ENSE00001004127_018 ENSE00001004127 018 18 43579372 43579541 - 30 99 41 T C 43579487 405 55 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCACAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 45999520 45999521 45999521 exon 14 0.141414141414141 CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTGTGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 1157 1886 0.897429352776775 0.922953180373764 0.91019126657527 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA 0.156308004511155 0.131518355998614 0.814222993989287 0.766278086320385 NA 0.143913180254885 NA FALSE NA 0.998 5.841 . missense_variant MODERATE PSTPIP2 HGNC 9581 ENST00000409746 7/15 1 deleterious(0.02) possibly_damaging(0.701) NA ATA T,C 8.236e-06 18:45999521 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 missense_variant 5.768469 0.93772 0.83249 0.706298 0.997983212097536 0 0.107611557288659 FALSE NA ENSE00001004127_019 ENSE00001004127 019 18 43579372 43579541 - 30 99 41 C A 43579525 406 17 ATTTTTCGGGTTGTTAGCCCTCCTGGGTACCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCCTTTGTCATTATGAACAAAGAGAAACAAAACAAATGAACAG 45999405 45999575 45999558 45999559 45999559 upstr_intron -25 -0.585365853658537 CTGTTCATTTGTTTTGTTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT mutant NA NA NA NA NA 1596 1216 0.994267435100626 0.953758989774987 0.974013212437806 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA 0.253146086835006 0.162324165399837 0.814222993989287 0.766278086320385 NA 0.207735126117422 NA FALSE NA 0 -2.135 . intron_variant MODIFIER PSTPIP2 HGNC 9581 ENST00000409746 6/14 1 NA ACC C,A 8.236e-06 18:45999559 PSTPIP2 HGNC Symbol protein_coding 88736 ENSG00000152229 ENSE00003533245 intron_variant -0.122577 0.18513 0.05542 0.053691 0.717564451712128 0.0957265 0.107611557288659 FALSE 4.06454e-06 ENSE00001004127_BRK ENSE00001004127 BRK 18 43579372 43579541 - 30 99 41 A,G; T,T NA NA NA ATTTTTCGGGTTGTTAGCCCTCCTGGGTGGCTTTTCTTGTTGCTTCGGGTTCACCAGGTTGGCACTCCGGCTGACGGCCTGTTCTGCCTCATCTTTGTCCCGGCATTTCTGCTCATAGTTCTTCTTTGCAATTGTCATTATGAACAAAGAGAACCAAAACAAATGAACAG 45999405 45999575 NA NA NA NA NA NA CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAATTGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGCCACCCAGGAGGGCTAACAACCCGAAAAAT CTGTTCATTTGTTTTGGTTCTCTTTGTTCATAATGACAAAGGCAAAGAAGAACTATGAGCAGAAATGCCGGGACAAAGATGAGGCAGAACAGGCCGTCAGCCGGAGTGCCAACCTGGTGAACCCGAAGCAACAAGAAAAGGTACCCAGGAGGGCTAACAACCCGAAAAAT control NA NA NA NA NA 275 527 0 0.0661544003713426 0.0330772001856713 0.85 0.778445987978573 0.74112134826562 0.79143482437515 NA NA -0.74112134826562 -0.725280424003807 0.814222993989287 0.766278086320385 NA -0.733200886134713 NA TRUE NA NA NA NA NA NA PSTPIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSTPIP2 NA NA NA ENSG00000152229 ENSE00003533245 NA NA NA NA NA NA NA 0.107611557288659 FALSE NA ENSE00001005869_000 ENSE00001005869 000 12 48525048 48525217 + 51 78 41 NA NA NA NA NA GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 NA NA NA NA NA NA GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC natural 2485 2989 0.846241117675976 0.847818279954499 0.847029698815237 9341 4028 0.925754881883248 0.865324814705187 0.895539848294217 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0 0 0 0 0.847029698815237 0.895539848294217 0 0 0 FALSE FALSE NA NA NA NA NA PFKM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKM NA NA NA ENSG00000152556 ENSE00003601910 NA NA NA NA NA NA NA 6.03263003776653e-07 FALSE NA ENSE00001005869_001 ENSE00001005869 001 12 48525048 48525217 + 51 78 41 A T 48525062 1404 15 GGAATTTATAGAGATGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131278 48131279 48131279 upstr_intron -37 -0.705882352941177 GGAATTTATAGAGATGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant NA NA NA NA NA 213 865 0.966964594657211 0.966857117978259 0.966910856317735 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 NA NA 0.0412097127739633 0.101532303273072 0.847029698815237 0.895539848294217 NA 0.0713710080235178 NA FALSE NA 0.068 1.444 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA AAG A,T 8.236e-06 12:48131279 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 intron_variant 0.25992 0.28666 0.27895 0.295142 0.739431346913228 0.0968874 6.03263003776653e-07 FALSE 4.06679e-06 ENSE00001005869_002 ENSE00001005869 002 12 48525048 48525217 + 51 78 41 A G 48525067 1405 20 GGAATTTATAGAGAAGCCTGACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131283 48131284 48131284 upstr_intron -32 -0.607843137254902 GGAATTTATAGAGAAGCCTGACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 70 58 0.842129709929983 0.85 0.846064854964992 NA NA NA NA NA 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 -0.00411140774599295 0.00218172004550143 NA NA 0.847029698815237 0.895539848294217 -0.000964843850245756 NA NA NA FALSE 0 -0.232 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA TAA A,G 8.236e-06 12:48131284 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 intron_variant -0.070645 0.14724 0.03623 0.295142 0.357508884073659 0.0968874 6.03263003776653e-07 FALSE 4.06597e-06 ENSE00001005869_003 ENSE00001005869 003 12 48525048 48525217 + 51 78 41 C T 48525069 1406 22 GGAATTTATAGAGAAGCCTAATGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131285 48131286 48131286 upstr_intron -30 -0.568627450980392 GGAATTTATAGAGAAGCCTAATGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant NA NA NA NA NA 213 1661 0.960344163639735 0.96338153544934 0.961862849544537 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 NA NA 0.0345892817564867 0.0980567207441533 0.847029698815237 0.895539848294217 NA 0.06632300125032 NA FALSE NA 0 -0.416 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:48131286 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 intron_variant -0.01298 0.18056 0.02204 0.295142 0.304945478845408 0.0968874 6.03263003776653e-07 FALSE 4.06613e-05 ENSE00001005869_004 ENSE00001005869 004 12 48525048 48525217 + 51 78 41 C G 48525069 1407 22 GGAATTTATAGAGAAGCCTAAGGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131285 48131286 48131286 upstr_intron -30 -0.568627450980392 GGAATTTATAGAGAAGCCTAAGGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 141 230 0.806019926384476 0.706186131981409 0.756103029182943 375 869 0.908968705905956 0.932660526394196 0.920814616150076 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 -0.0402211912915 -0.141632147973089 -0.016786175977292 0.0673357116890096 0.847029698815237 0.895539848294217 -0.0909266696322947 0.0252747678558588 0.116201437488154 FALSE FALSE 0 -0.416 NA NA NA PFKM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKM NA NA NA ENSG00000152556 ENSE00003601910 intron_variant -0.126994 0.20061 0.05364 0.295142 0.349088038482368 0.0968874 6.03263003776653e-07 FALSE 8.13226e-06 ENSE00001005869_005 ENSE00001005869 005 12 48525048 48525217 + 51 78 41 G A 48525070 1408 23 GGACAGAGCAAATATGGGACAGGGAGTTCTCTGGAACATACCAGCTGAAGCATCATCGAAACGCTCTCCCAGGTGGCTTCCTTGATGTGATCTCCACCATCCACCAGGCCTTGATAACCCTGTGTGACACATTATACCTGTTCAGCCTGTTAGGCTTCTCTATAAATTCC 48131264 48131434 48131286 48131287 48131287 upstr_intron -29 -0.549019607843137 GGAATTTATAGAGAAGCCTAACAGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 11 32 0.79850796084426 0.85 0.82425398042213 391 286 0.929779893169703 0.95 0.939889946584852 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 -0.0477331568317166 0.00218172004550143 0.00402501128645538 0.0846751852948134 0.847029698815237 0.895539848294217 -0.0227757183931076 0.0443500982906344 0.067125816683742 FALSE FALSE 0.026 0.149 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA CGG G,A 8.236e-05 12:48131287 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 intron_variant 0.098091 0.10496 0.00533 0.295142 0.3152065078424 0.0968874 6.03263003776653e-07 FALSE 6.91164e-05 ENSE00001005869_006 ENSE00001005869 006 12 48525048 48525217 + 51 78 41 C T 48525078 1409 31 GGAATTTATAGAGAAGCCTAACGGGCTGAATAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131294 48131295 48131295 upstr_intron -21 -0.392156862745098 GGAATTTATAGAGAAGCCTAACGGGCTGAATAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 270 284 0.85 0.85 0.85 178 1697 0.962910652519831 0.931248127129278 0.947079389824555 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0.00375888232402355 0.00218172004550143 0.0371557706365832 0.0659233124240919 0.847029698815237 0.895539848294217 0.00297030118476249 0.0515395415303375 0.048569240345575 FALSE FALSE 0 -0.398 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA ACA C,T 3.295e-05 12:48131295 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 intron_variant 0.184682 0.19002 0.00549 0.295142 0.296957466356727 0.0968874 6.03263003776653e-07 FALSE 4.47024e-05 ENSE00001005869_007 ENSE00001005869 007 12 48525048 48525217 + 51 78 41 A T 48525086 1410 39 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATATTGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131302 48131303 48131303 upstr_intron -13 -0.235294117647059 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATATTGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant NA NA NA NA NA 1601 1212 0.99797968377029 0.998534345841674 0.998257014805982 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 NA NA 0.0722248018870419 0.133209531136488 0.847029698815237 0.895539848294217 NA 0.102717166511765 NA FALSE NA 0.002 -0.293 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:48131303 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 intron_variant -0.231135 0.18954 0.01943 0.295142 0.638668248717509 0.0968874 6.03263003776653e-07 FALSE 6.09444e-05 ENSE00001005869_008 ENSE00001005869 008 12 48525048 48525217 + 51 78 41 A G 48525086 1411 39 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAGTGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131302 48131303 48131303 upstr_intron -13 -0.235294117647059 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAGTGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant NA NA NA NA NA 2645 518 0.00904687497178374 0.0022172271964327 0.00563205108410822 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 NA NA -0.916708006911464 -0.863107587508754 0.847029698815237 0.895539848294217 NA -0.889907797210109 NA TRUE NA 0.002 -0.293 NA NA NA PFKM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKM NA NA NA ENSG00000152556 ENSE00003601910 intron_variant -0.088534 0.23802 0.03501 0.295142 0.411584235806137 0.0968874 6.03263003776653e-07 FALSE 8.12592e-06 ENSE00001005869_009 ENSE00001005869 009 12 48525048 48525217 + 51 78 41 G C 48525088 1412 41 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATCTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131304 48131305 48131305 upstr_intron -11 -0.196078431372549 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATCTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant NA NA NA NA NA 128 485 0.994290790167835 0.99801386227406 0.996152326220947 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 NA NA 0.0685359082845871 0.132689047568873 0.847029698815237 0.895539848294217 NA 0.10061247792673 NA FALSE NA 0.809 0.475 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA TGT G,C 4.118e-05 12:48131305 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 intron_variant -0.448958 0.37552 0.59719 0.295142 0.627096537863585 0.108369 6.03263003776653e-07 FALSE 4.469e-05 ENSE00001005869_010 ENSE00001005869 010 12 48525048 48525217 + 51 78 41 T C 48525091 1413 44 GGACAGAGCAAATATGGGACAGGGAGTTCTCTGGAACATACCAGCTGAAGCATCATCGAAACGCTCTCCCAGGTGGCTTCCTTGATGTGATCTCCACCATCCACCAGGCCTTGATAACCCTGTGTGGCACATTATACCTGTTCAGCCCGTTAGGCTTCTCTATAAATTCC 48131264 48131434 48131307 48131308 48131308 upstr_intron -8 -0.137254901960784 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGCCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant NA NA NA NA NA 273 299 0.0537820925797249 0.0723080034108604 0.0630450479952926 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 NA NA -0.871972789303523 -0.793016811294326 0.847029698815237 0.895539848294217 NA -0.832494800298925 NA TRUE NA 0 -1.074 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA GTC T,C 8.236e-06 12:48131308 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 splice_region_variant -0.065794 0.20865 0.00817 0.295142 0.501453194867471 0.159226 6.03263003776653e-07 FALSE 4.06286e-06 ENSE00001005869_011 ENSE00001005869 011 12 48525048 48525217 + 51 78 41 C G 48525111 1414 64 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCGTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131327 48131328 48131328 exon 13 0.166666666666667 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCGTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 87 198 0.85 0.85 0.85 794 370 0.93783243394938 0.896394613816181 0.917113523882781 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0.00375888232402366 0.00218172004550143 0.0120775520661318 0.0310697991109947 0.847029698815237 0.895539848294217 0.00297030118476255 0.0215736755885633 0.0186033744038007 FALSE FALSE 0.035 0.581 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA CCT C,G 8.236e-06 12:48131328 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 missense_variant 6.009876 0.98649 0.83969 0.732398 0.997373129657721 0 6.03263003776653e-07 FALSE 4.06207e-06 ENSE00001005869_012 ENSE00001005869 012 12 48525048 48525217 + 51 78 41 G A 48525114 1415 67 GGACAGAGCAAATATGGGACAGGGAGTTCTCTGGAACATACCAGCTGAAGCATCATCGAAACGCTCTCCCAGGTGGCTTCCTTGATGTGATCTCCACCATCCATCAGGCCTTGATAACCCTGTGTGACACATTATACCTGTTCAGCCCGTTAGGCTTCTCTATAAATTCC 48131264 48131434 48131330 48131331 48131331 exon 16 0.205128205128205 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGATGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant NA NA NA NA NA 416 1030 0.973459947216331 0.946290644121822 0.959875295669076 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 NA NA 0.0477050653330834 0.080965829416635 0.847029698815237 0.895539848294217 NA 0.0643354473748592 NA FALSE NA 1 9.625 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 rs542573617 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGT G,A 1.647e-05 12:48131331 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 missense_variant 6.884758 0.99422 0.99826 0.732398 0.998341223126293 0 6.03263003776653e-07 FALSE 1.21857e-05 ENSE00001005869_013 ENSE00001005869 013 12 48525048 48525217 + 51 78 41 G A 48525120 1416 73 GGACAGAGCAAATATGGGACAGGGAGTTCTCTGGAACATACCAGCTGAAGCATCATCGAAACGCTCTCCCAGGTGGCTTCCTTGATGTGATCTCCACTATCCACCAGGCCTTGATAACCCTGTGTGACACATTATACCTGTTCAGCCCGTTAGGCTTCTCTATAAATTCC 48131264 48131434 48131336 48131337 48131337 exon 22 0.282051282051282 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATAGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 11 17 0 0 0 515 437 0.795868124580665 0.800908686312768 0.798388405446717 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 -0.846241117675976 -0.847818279954499 -0.129886757302583 -0.0644161283924185 0.847029698815237 0.895539848294217 -0.847029698815237 -0.0971514428475007 0.749878255967737 FALSE TRUE 1 9.625 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 rs201380165 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGG G,A 1.647e-05 12:48131337 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 missense_variant 7.008002 0.99422 0.99826 0.732398 0.99896141509906 0 6.03263003776653e-07 FALSE 4.06171e-06 ENSE00001005869_014 ENSE00001005869 014 12 48525048 48525217 + 51 78 41 G A 48525123 1417 76 GGACAGAGCAAATATGGGACAGGGAGTTCTCTGGAACATACCAGCTGAAGCATCATCGAAACGCTCTCCCAGGTGGCTTCCTTGATGTGATCTCTACCATCCACCAGGCCTTGATAACCCTGTGTGACACATTATACCTGTTCAGCCCGTTAGGCTTCTCTATAAATTCC 48131264 48131434 48131339 48131340 48131340 exon 25 0.320512820512821 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTAGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 40 11 0.064140243974187 0 0.0320701219870935 149 125 0.343315993908951 0.29982334327524 0.321569668592095 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 -0.782100873701789 -0.847818279954499 -0.582438887974297 -0.565501471429947 0.847029698815237 0.895539848294217 -0.814959576828144 -0.573970179702122 0.240989397126022 TRUE TRUE 1 9.625 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA TGG G,A 8.236e-06 12:48131340 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 missense_variant 6.842733 0.99422 0.99826 0.732398 0.99872350510082 0 6.03263003776653e-07 FALSE NA ENSE00001005869_016 ENSE00001005869 016 12 48525048 48525217 + 51 78 41 A G 48525125 1419 78 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGGGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131341 48131342 48131342 exon 27 0.346153846153846 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGGGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 36 12 0 0 0 164 1708 0.0784693569435431 0.0287773953881932 0.0536233761658681 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 -0.846241117675976 -0.847818279954499 -0.847285524939705 -0.836547419316993 0.847029698815237 0.895539848294217 -0.847029698815237 -0.841916472128349 0.00511322668688829 TRUE TRUE 0 -2.629 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA GAG A,G 8.236e-06 12:48131342 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 synonymous_variant 0.774114 0.68248 0.17803 0.732398 0.560481454203401 0 6.03263003776653e-07 FALSE NA ENSE00001005869_017 ENSE00001005869 017 12 48525048 48525217 + 51 78 41 C T 48525155 1420 108 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGTGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131371 48131372 48131372 exon -22 0.730769230769231 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGTGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 45 27 0.85 0.85 0.85 527 504 0.888408003528799 0.844593890881759 0.866500947205279 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0.00375888232402366 0.00218172004550155 -0.0373468783544488 -0.0207309238234278 0.847029698815237 0.895539848294217 0.0029703011847626 -0.0290389010889383 0.0320092022737009 FALSE FALSE 0 -4.262 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA GCG C,T 2.471e-05 12:48131372 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 synonymous_variant 2.386696 0.92555 0.04606 0.732398 0.670828201207633 0 6.03263003776653e-07 FALSE 2.4369e-05 ENSE00001005869_019 ENSE00001005869 019 12 48525048 48525217 + 51 78 41 A T 48525172 1422 125 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCTGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131388 48131389 48131389 exon -5 0.948717948717949 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCTGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 54 38 0.85 0.85 0.85 NA NA NA NA NA 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0.00375888232402366 0.00218172004550143 NA NA 0.847029698815237 0.895539848294217 0.00297030118476255 NA NA NA FALSE 1 9.143 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA CAG A,T 8.236e-06 12:48131389 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 missense_variant 5.288978 0.99229 0.99711 0.732398 0.989092338426237 0 6.03263003776653e-07 FALSE 1.21858e-05 ENSE00001005869_020 ENSE00001005869 020 12 48525048 48525217 + 51 78 41 A G 48525186 1423 139 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCGGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 48131402 48131403 48131403 downstr_intron 10 1.25 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCGGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 24 73 0.85 0.85 0.85 493 417 0.97468590218787 0.934039190773255 0.954362546480563 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0.00375888232402366 0.00218172004550143 0.048931020304622 0.0687143760680685 0.847029698815237 0.895539848294217 0.00297030118476255 0.0588226981863453 0.0558523970015827 FALSE FALSE 0 0.171 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA CAG A,G 1.647e-05 12:48131403 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 non_coding_transcript_exon_variant 2.416751 0.62882 0.13392 0.099367 0.862153768093601 0.309499 6.03263003776653e-07 FALSE 2.03128e-05 ENSE00001005869_021 ENSE00001005869 021 12 48525048 48525217 + 51 78 41 C T 48525200 1424 153 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTTCCATATTTGCTCTGTCC 48131264 48131434 48131416 48131417 48131417 downstr_intron 24 1.6 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTTCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 139 168 0.846046552152441 0.86129417114889 0.853670361650665 713 60 0.95025537298386 0.944812120169708 0.947533746576784 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 -0.000194565523535695 0.0134758911943915 0.0245004911006117 0.0794873054645219 0.847029698815237 0.895539848294217 0.00664066283542791 0.0519938982825668 0.0453532354471389 FALSE FALSE 0 0.555 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:48131417 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 non_coding_transcript_exon_variant 1.996815 0.23304 0.01877 0.099367 0.844653860013412 0.289887 6.03263003776653e-07 FALSE 1.2194e-05 ENSE00001005869_022 ENSE00001005869 022 12 48525048 48525217 + 51 78 41 C G 48525200 1425 153 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTGCCATATTTGCTCTGTCC 48131264 48131434 48131416 48131417 48131417 downstr_intron 24 1.6 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTGCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 167 231 0.85 0.85 0.85 2179 1901 0.873116652706499 0.800341954802376 0.836729303754437 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0.00375888232402366 0.00218172004550143 -0.0526382291767495 -0.0649828599028103 0.847029698815237 0.895539848294217 0.00297030118476255 -0.0588105445397799 0.0617808457245425 FALSE FALSE 0 0.555 NA NA NA PFKM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKM NA NA NA ENSG00000152556 ENSE00003601910 non_coding_transcript_exon_variant 1.863546 0.30984 0.15152 0.099367 0.837688783080273 0.289887 6.03263003776653e-07 FALSE 4.06468e-06 ENSE00001005869_023 ENSE00001005869 023 12 48525048 48525217 + 51 78 41 C T 48525202 1426 155 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCTATATTTGCTCTGTCC 48131264 48131434 48131418 48131419 48131419 downstr_intron 26 1.65 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCTATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 22 40 0.85 0.85 0.85 581 176 0.950572562860204 0.953306168677183 0.951939365768694 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0.00375888232402366 0.00218172004550143 0.0248176809769564 0.0879813539719961 0.847029698815237 0.895539848294217 0.00297030118476255 0.0563995174744762 0.0534292162897137 FALSE FALSE 0 -0.627 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 rs374142666 1 NA T:0 T:0.0001 CCA C,T 1.647e-05 12:48131419 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 non_coding_transcript_exon_variant 1.777558 0.13743 0.01713 0.099367 0.791213314829633 0.291737 6.03263003776653e-07 FALSE 8.13154e-06 ENSE00001005869_024 ENSE00001005869 024 12 48525048 48525217 + 51 78 41 A G 48525203 1427 156 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCGTATTTGCTCTGTCC 48131264 48131434 48131419 48131420 48131420 downstr_intron 27 1.675 GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCGTATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC mutant 67 226 0.85 0.85 0.85 19 10 0.991000947945555 0.95 0.970500473972777 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 0.00375888232402377 0.00218172004550143 0.0652460660623069 0.0846751852948134 0.847029698815237 0.895539848294217 0.0029703011847626 0.0749606256785602 0.0719903244937976 FALSE FALSE 0 -2.759 . intron_variant MODIFIER PFKM HGNC 8877 ENST00000546465 1/5 1 NA CAT A,G 1.647e-05 12:48131420 PFKM HGNC Symbol protein_coding 41265 ENSG00000152556 ENSE00003601910 non_coding_transcript_exon_variant 1.689695 0.14279 0.01296 0.099367 0.624684653869325 0.291737 6.03263003776653e-07 FALSE 1.21952e-05 ENSE00001005869_BRK ENSE00001005869 BRK 12 48525048 48525217 + 51 78 41 A,G; T,T NA NA NA GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACTTGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGCCATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC 48131264 48131434 NA NA NA NA NA NA GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACTTGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGCCATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC GGAATTTATAGAGAAGCCTAACGGGCTGAACAGGTATAATGTGTCACACAGGGTTATCAAGGCCTGGTGGATGGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTGGTATGTTCCAGAGAACTCCCTGTCCCATATTTGCTCTGTCC control 314 207 0.0839871114569078 0 0.0419935557284539 2109 1250 0.00694461057296447 0.000660631533613873 0.00380262105328917 0.846241117675976 0.847818279954499 0.925754881883248 0.865324814705187 -0.762254006219069 -0.847818279954499 -0.918810271310284 -0.864664183171573 0.847029698815237 0.895539848294217 -0.805036143086784 -0.891737227240928 0.0867010841541445 TRUE TRUE NA NA NA NA NA PFKM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKM NA NA NA ENSG00000152556 ENSE00003601910 NA NA NA NA NA NA NA 6.03263003776653e-07 FALSE NA ENSE00001006072_000 ENSE00001006072 000 4 88580298 88580467 + 74 33 63 NA NA NA NA NA TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCATTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT 87659145 87659315 NA NA NA NA NA NA TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCATTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCATTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT natural NA NA NA NA NA 526 1779 0.884301315125489 0.988754344801046 0.936527829963267 NA NA 0.884301315125489 0.988754344801046 NA NA 0 0 NA 0.936527829963267 NA 0 NA FALSE NA NA NA NA NA NA RP11-742B18.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC093895.1 NA NA NA ENSG00000249001 ENSE00001006072 NA NA NA NA NA NA NA NA NA NA ENSE00001006132_000 ENSE00001006132 000 3 153867116 153867285 + 62 57 51 NA NA NA NA NA ACCGACATGCACACTCCAGAGCTCTAAAGCAGCTGCTCGGTAGAAACATACCTCTTGTCTCTTTCTTTCCTCCTGGCTTACTGTCTGAGATAATCCCTTTCTTTTCACCTAGGAGAAAAAGCAAAGTAGAGTTGACTCATTTATTAATACTTTAAAAGTTTCAAGGGCAT 154149326 154149496 NA NA NA NA NA NA ATGCCCTTGAAACTTTTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT ATGCCCTTGAAACTTTTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT natural 15 18 0.996053910288464 1 0.998026955144232 704 404 0.897751985042441 0.927756367291176 0.912754176166809 0.996053910288464 1 0.897751985042441 0.927756367291176 0 0 0 0 0.998026955144232 0.912754176166809 0 0 0 FALSE FALSE NA NA NA NA NA ARHGEF26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF26 NA NA NA ENSG00000114790 ENSE00001006132 NA NA NA NA NA NA NA 5.99162897861342e-06 FALSE NA ENSE00001006132_001 ENSE00001006132 001 3 153867116 153867285 + 62 57 51 T C 153867131 3374 16 ACCGACATGCACACTCCAGAGCTCTAAAGCAGCTGCTCGGTAGAAACATACCTCTTGTCTCTTTCTTTCCTCCTGGCTTACTGTCTGAGATAATCCCTTTCTTTTCACCTAGGAGAAAAAGCAAAGTAGAGTTGACTCATTTATTAATACTTTAGAAGTTTCAAGGGCAT 154149326 154149496 154149341 154149342 154149342 upstr_intron -47 -0.741935483870968 ATGCCCTTGAAACTTCTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT ATGCCCTTGAAACTTTTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT mutant NA NA NA NA NA 203 123 0.989979734646866 1 0.994989867323433 0.996053910288464 1 0.897751985042441 0.927756367291176 NA NA 0.092227749604425 0.0722436327088239 0.998026955144232 0.912754176166809 NA 0.0822356911566245 NA FALSE NA 0 1.475 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 rs373177840 1 NA C:0.0017 C:0 TTT T,C 9.997e-05 3:154149342 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00001006132 intron_variant 0.029667 0.18773 0.00975 0.053691 0.732363749176841 0.0582165 5.99162897861342e-06 FALSE 7.45661e-05 ENSE00001006132_003 ENSE00001006132 003 3 153867116 153867285 + 62 57 51 T G 153867137 3376 22 ACCGACATGCACACTCCAGAGCTCTAAAGCAGCTGCTCGGTAGAAACATACCTCTTGTCTCTTTCTTTCCTCCTGGCTTACTGTCTGAGATAATCCCTTTCTTTTCACCTAGGAGAAAAAGCAAAGTAGAGTTGACTCATTTATTAATCCTTTAAAAGTTTCAAGGGCAT 154149326 154149496 154149347 154149348 154149348 upstr_intron -41 -0.645161290322581 ATGCCCTTGAAACTTTTAAAGGATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT ATGCCCTTGAAACTTTTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT mutant NA NA NA NA NA 779 583 0.996042030235753 0.99940089930032 0.997721464768037 0.996053910288464 1 0.897751985042441 0.927756367291176 NA NA 0.0982900451933119 0.0716445320091443 0.998026955144232 0.912754176166809 NA 0.0849672886012281 NA FALSE NA 0.25 0.31 NA NA NA ARHGEF26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:154149348 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00001006132 intron_variant 0.011967 0.22013 0.44495 0.053691 0.621178498347917 0.0582563 5.99162897861342e-06 FALSE 5.47333e-06 ENSE00001006132_007 ENSE00001006132 007 3 153867116 153867285 + 62 57 51 G A 153867214 3380 99 ACCGACATGCACACTCCAGAGCTCTAAAGCAGCTGCTCGGTAGAAACATACCTCTTGTCTCTTTCTTTCCTTCTGGCTTACTGTCTGAGATAATCCCTTTCTTTTCACCTAGGAGAAAAAGCAAAGTAGAGTTGACTCATTTATTAATACTTTAAAAGTTTCAAGGGCAT 154149326 154149496 154149424 154149425 154149425 exon -21 0.649122807017544 ATGCCCTTGAAACTTTTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGAAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT ATGCCCTTGAAACTTTTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT mutant NA NA NA NA NA 107 197 1 1 1 0.996053910288464 1 0.897751985042441 0.927756367291176 NA NA 0.102248014957559 0.0722436327088239 0.998026955144232 0.912754176166809 NA 0.0872458238331914 NA FALSE NA 1 7.548 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA GGA G,A 8.279e-06 3:154149425 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00001006132 missense_variant 5.287544 0.99123 0.99128 0.706298 0.99922547721493 0 5.99162897861342e-06 FALSE NA ENSE00001006132_014 ENSE00001006132 014 3 153867116 153867285 + 62 57 51 C T 153867246 3387 131 ACCGACATGCACACTCCAGAGCTCTAAAGCAGCTGCTCGATAGAAACATACCTCTTGTCTCTTTCTTTCCTCCTGGCTTACTGTCTGAGATAATCCCTTTCTTTTCACCTAGGAGAAAAAGCAAAGTAGAGTTGACTCATTTATTAATACTTTAAAAGTTTCAAGGGCAT 154149326 154149496 154149456 154149457 154149457 downstr_intron 12 1.24 ATGCCCTTGAAACTTTTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTATCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT ATGCCCTTGAAACTTTTAAAGTATTAATAAATGAGTCAACTCTACTTTGCTTTTTCTCCTAGGTGAAAAGAAAGGGATTATCTCAGACAGTAAGCCAGGAGGAAAGAAAGAGACAAGAGGTATGTTTCTACCGAGCAGCTGCTTTAGAGCTCTGGAGTGTGCATGTCGGT mutant NA NA NA NA NA 85 139 1 1 1 0.996053910288464 1 0.897751985042441 0.927756367291176 NA NA 0.102248014957559 0.0722436327088239 0.998026955144232 0.912754176166809 NA 0.0872458238331914 NA FALSE NA 0 -0.423 . intron_variant MODIFIER ARHGEF26 HGNC 24490 ENST00000465817 4/4 1 NA ACC C,T 5.797e-05 3:154149457 ARHGEF26 HGNC Symbol protein_coding 136824 ENSG00000114790 ENSE00001006132 intron_variant -0.136897 0.19486 0.03509 0.053691 0.763035756652797 0.0502052 5.99162897861342e-06 FALSE 8.74103e-05 ENSE00001006190_000 ENSE00001006190 000 4 89660149 89660318 - 32 96 42 NA NA NA NA NA TTGTACCAGCCACGGGAAGGTATTCTACTCACAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCCGTTCGTTCTTTGTTACCTGAAAAGCAAGAATGAGAGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 NA NA NA NA NA NA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA natural NA NA NA NA NA 772 173 0.874045914075992 1 0.937022957037996 NA NA 0.874045914075992 1 NA NA 0 0 NA 0.937022957037996 NA 0 NA FALSE NA NA NA NA NA NA FAM13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM13A NA NA NA ENSG00000138640 ENSE00003482194 NA NA NA NA NA NA NA 2.45411477501299e-14 FALSE NA ENSE00001006190_003 ENSE00001006190 003 4 89660149 89660318 - 32 96 42 G A 89660168 960 151 TTGTACCAGCCACGGGAAGATATTCTACTCACAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCCGTTCGTTCTTTGTTACCTGAAAAGCAAGAATGAGAGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 88739016 88739017 88739017 downstr_intron 13 1.41935483870968 CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATATCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA mutant NA NA NA NA NA 22 70 1 1 1 NA NA 0.874045914075992 1 NA NA 0.125954085924008 0 NA 0.937022957037996 NA 0.0629770429620038 NA FALSE NA 0 0.166 rs184743658 intron_variant&non_coding_transcript_variant MODIFIER FAM13A HGNC 19367 ENST00000508360 5/6 rs184743658 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGT G,A 0.0001318 4:88739017 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003482194 intron_variant 0.477048 0.36909 0.74981 0.235255 0.771906890577627 0.0788018 2.45411477501299e-14 FALSE 0.000117959 ENSE00001006190_004 ENSE00001006190 004 4 89660149 89660318 - 32 96 42 T C 89660169 961 150 TTGTACCAGCCACGGGAAGGCATTCTACTCACAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCCGTTCGTTCTTTGTTACCTGAAAAGCAAGAATGAGAGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 88739017 88739018 88739018 downstr_intron 12 1.38709677419355 CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATGCCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA mutant NA NA NA NA NA 656 24 1 1 1 NA NA 0.874045914075992 1 NA NA 0.125954085924008 0 NA 0.937022957037996 NA 0.0629770429620038 NA FALSE NA 0 -0.384 . intron_variant&non_coding_transcript_variant MODIFIER FAM13A HGNC 19367 ENST00000508360 5/6 1 NA GTA T,C 8.237e-06 4:88739018 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003482194 intron_variant 0.048347 0.24629 0.52058 0.235255 0.46490866783978 0.0788018 2.45411477501299e-14 FALSE 1.22032e-05 ENSE00001006190_009 ENSE00001006190 009 4 89660149 89660318 - 32 96 42 T C 89660198 966 121 TTGTACCAGCCACGGGAAGGTATTCTACTCACAATGATGGGTATGGTGTCAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCCGTTCGTTCTTTGTTACCTGAAAAGCAAGAATGAGAGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 88739046 88739047 88739047 exon -18 0.822916666666667 CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTGACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA mutant NA NA NA NA NA 1063 320 0.999262095568286 0.988968384844514 0.9941152402064 NA NA 0.874045914075992 1 NA NA 0.125216181492294 -0.0110316151554865 NA 0.937022957037996 NA 0.0570922831684035 NA FALSE NA 1 3.869 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FAM13A HGNC 19367 ENST00000508360 5/7 1 NA TTA T,C 8.237e-06 4:88739047 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003482194 missense_variant 4.689521 0.9628 0.99505 0.553676 0.994916746522451 0 2.45411477501299e-14 FALSE NA ENSE00001006190_015 ENSE00001006190 015 4 89660149 89660318 - 32 96 42 T C 89660244 972 75 TTGTACCAGCCACGGGAAGGTATTCTACTCACAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGCGGCTTCATCACCTGCCGTTCGTTCTTTGTTACCTGAAAAGCAAGAATGAGAGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 88739092 88739093 88739093 exon 33 0.34375 CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCGCTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA mutant NA NA NA NA NA 55 54 1 1 1 NA NA 0.874045914075992 1 NA NA 0.125954085924008 0 NA 0.937022957037996 NA 0.0629770429620038 NA FALSE NA 0 -6.551 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FAM13A HGNC 19367 ENST00000508360 5/7 1 NA GTG T,C 8.237e-06 4:88739093 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003482194 synonymous_variant 0.57777 0.22688 0.53747 0.487112 0.589300243148158 0 2.45411477501299e-14 FALSE 4.06408e-06 ENSE00001006190_018 ENSE00001006190 018 4 89660149 89660318 - 32 96 42 C T 89660260 975 59 TTGTACCAGCCACGGGAAGGTATTCTACTCACAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCTGTTCGTTCTTTGTTACCTGAAAAGCAAGAATGAGAGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 88739108 88739109 88739109 exon 17 0.177083333333333 CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACAGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA mutant NA NA NA NA NA 212 204 0.8 0.8843191339278 0.8421595669639 NA NA 0.874045914075992 1 NA NA -0.0740459140759924 -0.1156808660722 NA 0.937022957037996 NA -0.0948633900740961 NA FALSE NA 1 7.32 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FAM13A HGNC 19367 ENST00000508360 5/7 1 NA CCG C,T 3.295e-05 4:88739109 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003482194 missense_variant 8.335579 0.9733 0.99695 0.553676 0.999468537442125 0 2.45411477501299e-14 FALSE 4.06415e-05 ENSE00001006190_020 ENSE00001006190 020 4 89660149 89660318 - 32 96 42 G A 89660265 977 54 TTGTACCAGCCACGGGAAGGTATTCTACTCACAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCCGTTCATTCTTTGTTACCTGAAAAGCAAGAATGAGAGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 88739113 88739114 88739114 exon 12 0.125 CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAATGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA mutant NA NA NA NA NA 13 184 1 1 1 NA NA 0.874045914075992 1 NA NA 0.125954085924008 0 NA 0.937022957037996 NA 0.0629770429620038 NA FALSE NA 0.728 0.241 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FAM13A HGNC 19367 ENST00000508360 5/7 rs376269141 1 A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 A:0 A:0.0002 CGT G,A 0.0004612 4:88739114 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003482194 synonymous_variant 1.449875 0.87169 0.88316 0.553676 0.873985250460048 0 2.45411477501299e-14 FALSE 0.000524318 ENSE00001006190_025 ENSE00001006190 025 4 89660149 89660318 - 32 96 42 A T 89660295 982 24 TTGTACCAGCCACGGGAAGGTATTCTACTCACAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCCGTTCGTTCTTTGTTACCTGAAAAGCAAGAATGAGTGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 88739143 88739144 88739144 upstr_intron -19 -0.428571428571429 CCCAGCAGCAGGCTTCTCATAGCACTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA mutant NA NA NA NA NA 119 522 1 1 1 NA NA 0.874045914075992 1 NA NA 0.125954085924008 0 NA 0.937022957037996 NA 0.0629770429620038 NA FALSE NA 0 1.152 . intron_variant&non_coding_transcript_variant MODIFIER FAM13A HGNC 19367 ENST00000508360 4/6 1 NA GAG A,T 8.237e-06 4:88739144 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003482194 intron_variant -0.033037 0.26746 0.89745 0.235255 0.647059769876462 0.112725 2.45411477501299e-14 FALSE 1.22017e-05 ENSE00001006190_028 ENSE00001006190 028 4 89660149 89660318 - 32 96 42 G A 89660303 985 16 TTGTACCAGCCACGGGAAGGTATTCTACTCACAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCCGTTCGTTCTTTGTTACCTGAAAAGCAAGAATGAGAGCTATGAAAAGCCTGCTGCTGGG 88738997 88739167 88739151 88739152 88739152 upstr_intron -27 -0.619047619047619 CCCAGCAGCAGGCTTTTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA mutant NA NA NA NA NA 1080 135 1 0.983855740999979 0.99192787049999 NA NA 0.874045914075992 1 NA NA 0.125954085924008 -0.0161442590000206 NA 0.937022957037996 NA 0.0549049134619935 NA FALSE NA 0.009 1.023 . intron_variant&non_coding_transcript_variant MODIFIER FAM13A HGNC 19367 ENST00000508360 4/6 1 NA AGA G,A 8.237e-06 4:88739152 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003482194 intron_variant 0.402117 0.26733 0.74481 0.235255 0.655211154822172 0.127349 2.45411477501299e-14 FALSE 4.06977e-06 ENSE00001006190_BRK ENSE00001006190 BRK 4 89660149 89660318 - 32 96 42 A,G; T,T NA NA NA TTGTACCAGCCACGGGAAGGTATTCTACTCGGAATGATGGGTATGGTGTTAGCTCGGGAGAGGATCTGTTTGACCAGCCGGTACCTGTCGTATAGTGGCTTCATCACCTGCCGTTCGTTCTTTGTTACAAGAAAAGCAAGAATGAGAGCTATGAGAAGCCTGCTGCTGGG 88738997 88739167 NA NA NA NA NA NA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCTTGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTCCGAGTAGAATACCTTCCCGTGGCTGGTACAA CCCAGCAGCAGGCTTCTCATAGCTCTCATTCTTGCTTTTCAGGTAACAAAGAACGAACGGCAGGTGATGAAGCCACTATACGACAGGTACCGGCTGGTCAAACAGATCCTCTCCCGAGCTAACACCATACCCATCATTGTGAGTAGAATACCTTCCCGTGGCTGGTACAA control 29 17 0 0 0 NA NA NA NA NA NA NA 0.874045914075992 1 NA NA NA NA NA 0.937022957037996 NA NA NA NA NA NA NA NA NA NA FAM13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM13A NA NA NA ENSG00000138640 ENSE00003482194 NA NA NA NA NA NA NA 2.45411477501299e-14 FALSE NA ENSE00001007291_000 ENSE00001007291 000 10 94452394 94452563 + 65 51 54 NA NA NA NA NA CACCCTGCCCTCTGGCACGTCCCGACGCGGGCTCGTTGCAAGTTTTCTTTCTCTCTTTCCTGTAGGTCAAAACCTGGTTTCAGAATCGACGCGCTAAATGGAGGAGACTAAAACAGGTATGGACATGGTTCTGTTTCTATGGAAATAAATATTTTTATCACGTTATCTCA 92692636 92692806 NA NA NA NA NA NA CACCCTGCCCTCTGGCACGTCCCGACGCGGGCTCGTTGCAAGTTTTCTTTCTCTCTTTCCTGTAGGTCAAAACCTGGTTTCAGAATCGACGCGCTAAATGGAGGAGACTAAAACAGGTATGGACATGGTTCTGTTTCTATGGAAATAAATATTTTTATCACGTTATCTCA CACCCTGCCCTCTGGCACGTCCCGACGCGGGCTCGTTGCAAGTTTTCTTTCTCTCTTTCCTGTAGGTCAAAACCTGGTTTCAGAATCGACGCGCTAAATGGAGGAGACTAAAACAGGTATGGACATGGTTCTGTTTCTATGGAAATAAATATTTTTATCACGTTATCTCA natural 24 37 0.999648416850703 0.99821310257945 0.998930759715077 2480 3161 0.950641322333679 0.97231214453891 0.961476733436295 0.999648416850703 0.99821310257945 0.950641322333679 0.97231214453891 0 0 0 0 0.998930759715077 0.961476733436295 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001007291 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00001007387_000 ENSE00001007387 000 6 144744634 144744803 + 51 78 41 NA NA NA NA NA GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 NA NA NA NA NA NA GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC natural 69 104 0.998141697533052 0.996382030680778 0.997261864106915 1845 1037 0.986828966980571 0.990596834169039 0.988712900574805 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 0 0 0 0 0.997261864106915 0.988712900574805 0 0 0 FALSE FALSE NA NA NA NA NA UTRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTRN NA NA NA ENSG00000152818 ENSE00001007387 NA NA NA NA NA NA NA 2.96803315260187e-09 FALSE NA ENSE00001007387_003 ENSE00001007387 003 6 144744634 144744803 + 51 78 41 T C 144744661 2348 28 GGCATATGGAGGGACAATCAGTTTTACCTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423524 144423525 144423525 upstr_intron -24 -0.450980392156863 GGCATATGGAGGGACAATCAGTTTTACCTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 270 95 1 0.998381334956663 0.999190667478331 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0131710330194293 0.00778450078762349 0.997261864106915 0.988712900574805 NA 0.0104777669035264 NA FALSE NA 0.009 0.855 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 3/5 1 NA CTT T,C 1.647e-05 6:144423525 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 intron_variant -0.343539 0.18904 0.0922 0.099367 0.390683456584337 0.17131 2.96803315260187e-09 FALSE 1.63091e-05 ENSE00001007387_004 ENSE00001007387 004 6 144744634 144744803 + 51 78 41 C G 144744681 2349 48 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTGCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423544 144423545 144423545 upstr_intron -4 -0.0588235294117647 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTGCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 321 40 0.977194685528312 1 0.988597342764156 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA -0.00963428145225897 0.00940316583096068 0.997261864106915 0.988712900574805 NA -0.000115557810649147 NA FALSE NA 0.997 0.885 . splice_region_variant&intron_variant LOW UTRN HGNC 12635 ENST00000421035 3/5 1 NA TCC C,G 8.236e-06 6:144423545 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 splice_region_variant 1.838865 0.9059 0.67656 0.156188 0.896958014899851 0.558884 2.96803315260187e-09 FALSE 4.06673e-06 ENSE00001007387_005 ENSE00001007387 005 6 144744634 144744803 + 51 78 41 C T 144744682 2350 49 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCTAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423545 144423546 144423546 upstr_intron -3 -0.0392156862745098 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCTAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 115 533 1 1 1 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0131710330194293 0.00940316583096068 0.997261864106915 0.988712900574805 NA 0.011287099425195 NA FALSE NA 0.998 1.015 . splice_region_variant&intron_variant LOW UTRN HGNC 12635 ENST00000421035 3/5 1 NA CCA C,T 8.236e-06 6:144423546 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 splice_region_variant 2.020833 0.90794 0.7624 0.156188 0.853103931951532 0.621181 2.96803315260187e-09 FALSE 4.06554e-06 ENSE00001007387_006 ENSE00001007387 006 6 144744634 144744803 + 51 78 41 G A 144744690 2351 57 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAAGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423553 144423554 144423554 exon 6 0.0769230769230769 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAAGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 572 115 0.994421809847268 1 0.997210904923634 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.00759284286669726 0.00940316583096068 0.997261864106915 0.988712900574805 NA 0.00849800434882897 NA FALSE NA 1 3.326 . synonymous_variant LOW UTRN HGNC 12635 ENST00000421035 4/6 1 NA AGG G,A 8.236e-06 6:144423554 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 synonymous_variant 1.286367 0.89271 0.39345 0.706548 0.832345370795817 0 2.96803315260187e-09 FALSE 1.21911e-05 ENSE00001007387_007 ENSE00001007387 007 6 144744634 144744803 + 51 78 41 G C 144744691 2352 58 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGCAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423554 144423555 144423555 exon 7 0.0897435897435897 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGCAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 25 104 1 1 1 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0131710330194293 0.00940316583096068 0.997261864106915 0.988712900574805 NA 0.011287099425195 NA FALSE NA 1 9.168 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 4/6 1 deleterious(0) probably_damaging(0.999) NA GGA G,C 3.295e-05 6:144423555 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 missense_variant 5.842368 0.9634 0.97981 0.706548 0.998358267982465 0 2.96803315260187e-09 FALSE 1.21904e-05 ENSE00001007387_008 ENSE00001007387 008 6 144744634 144744803 + 51 78 41 C T 144744694 2353 61 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAATGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423557 144423558 144423558 exon 10 0.128205128205128 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAATGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 140 202 1 1 1 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0131710330194293 0.00940316583096068 0.997261864106915 0.988712900574805 NA 0.011287099425195 NA FALSE NA 1 3.428 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 4/6 rs542032211 1 deleterious(0) probably_damaging(0.994) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACG C,T 2.471e-05 6:144423558 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 missense_variant 7.870364 0.92858 0.90074 0.706548 0.999414921192935 0 2.96803315260187e-09 FALSE 8.12665e-06 ENSE00001007387_009 ENSE00001007387 009 6 144744634 144744803 + 51 78 41 G C 144744707 2354 74 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAACGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423570 144423571 144423571 exon 23 0.294871794871795 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAACGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 300 47 1 1 1 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0131710330194293 0.00940316583096068 0.997261864106915 0.988712900574805 NA 0.011287099425195 NA FALSE NA 1 9.2 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 4/6 1 deleterious(0) probably_damaging(1) NA AGG G,C 1.647e-05 6:144423571 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 missense_variant 5.416081 0.94777 0.94945 0.706548 0.987360105093257 0 2.96803315260187e-09 FALSE 1.21879e-05 ENSE00001007387_010 ENSE00001007387 010 6 144744634 144744803 + 51 78 41 A G 144744720 2355 87 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTGAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423583 144423584 144423584 exon 36 0.461538461538462 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTGAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 423 62 0.998728327913354 1 0.999364163956677 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0118993609327831 0.00940316583096068 0.997261864106915 0.988712900574805 NA 0.0106512633818719 NA FALSE NA 0.993 0.487 . synonymous_variant LOW UTRN HGNC 12635 ENST00000421035 4/6 1 NA TAA A,G 8.236e-06 6:144423584 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 synonymous_variant 0.53129 0.87978 0.58388 0.706548 0.749229105358053 0 2.96803315260187e-09 FALSE 8.12308e-06 ENSE00001007387_011 ENSE00001007387 011 6 144744634 144744803 + 51 78 41 C T 144744726 2356 93 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAATGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423589 144423590 144423590 exon -37 0.538461538461538 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAATGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 383 648 1 0.997857307350498 0.998928653675249 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0131710330194293 0.00726047318145906 0.997261864106915 0.988712900574805 NA 0.0102157531004442 NA FALSE NA 0.018 -1.052 . synonymous_variant LOW UTRN HGNC 12635 ENST00000421035 4/6 rs563605754 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 1.647e-05 6:144423590 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 synonymous_variant 2.102002 0.81172 0.04714 0.706548 0.667335590973589 0 2.96803315260187e-09 FALSE 2.43686e-05 ENSE00001007387_012 ENSE00001007387 012 6 144744634 144744803 + 51 78 41 G A 144744727 2357 94 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACATCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423590 144423591 144423591 exon -36 0.551282051282051 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACATCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 1669 329 0.999133775891555 0.983536097649946 0.991334936770751 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0123048089109846 -0.00706073651909345 0.997261864106915 0.988712900574805 NA 0.00262203619594559 NA FALSE NA 1 9.2 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 4/6 1 deleterious(0.03) probably_damaging(0.998) NA CGT G,A 1.647e-05 6:144423591 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 missense_variant 6.408659 0.94649 0.93828 0.706548 0.998359678917783 0 2.96803315260187e-09 FALSE 3.65542e-05 ENSE00001007387_017 ENSE00001007387 017 6 144744634 144744803 + 51 78 41 T G 144744775 2362 142 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAAGGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423638 144423639 144423639 downstr_intron 13 1.325 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAAGGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 20 441 0.8 0.999641209404767 0.899820604702384 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA -0.186828966980571 0.00904437523572799 0.997261864106915 0.988712900574805 NA -0.0888922958724213 NA FALSE NA 0 -0.589 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 4/5 1 NA ATG T,G 3.295e-05 6:144423639 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 intron_variant 1.226364 0.19417 0.02497 0.062308 0.699705665737298 0.0456202 2.96803315260187e-09 FALSE 4.06167e-05 ENSE00001007387_019 ENSE00001007387 019 6 144744634 144744803 + 51 78 41 G A 144744780 2364 147 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAATTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 144423643 144423644 144423644 downstr_intron 18 1.45 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAATTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 208 556 0.999801979390595 1 0.999900989695297 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.012973012410024 0.00940316583096068 0.997261864106915 0.988712900574805 NA 0.0111880891204924 NA FALSE NA 0 -0.231 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 4/5 1 NA AGT G,A 8.236e-06 6:144423644 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 intron_variant 0.709775 0.18377 0.04061 0.062308 0.682175544853709 0.0456202 2.96803315260187e-09 FALSE 4.062e-06 ENSE00001007387_020 ENSE00001007387 020 6 144744634 144744803 + 51 78 41 G C 144744789 2365 156 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGCTCTGTGCTGCCATC 144423497 144423667 144423652 144423653 144423653 downstr_intron 27 1.675 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGCTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 465 437 1 1 1 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.0131710330194293 0.00940316583096068 0.997261864106915 0.988712900574805 NA 0.011287099425195 NA FALSE NA 0 -0.381 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 4/5 1 NA GGT G,C 2.471e-05 6:144423653 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 intron_variant -0.272082 0.17009 0.03921 0.062308 0.647879331939214 0.0463496 2.96803315260187e-09 FALSE 2.43793e-05 ENSE00001007387_023 ENSE00001007387 023 6 144744634 144744803 + 51 78 41 G A 144744793 2368 160 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTATGCTGCCATC 144423497 144423667 144423656 144423657 144423657 downstr_intron 31 1.775 GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTATGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC mutant NA NA NA NA NA 210 1151 0.990312090290358 0.978370183281979 0.984341136786169 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 NA NA 0.00348312330978784 -0.0122266508870608 0.997261864106915 0.988712900574805 NA -0.00437176378863646 NA FALSE NA 0 -0.171 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 4/5 1 NA TGT G,A 8.236e-06 6:144423657 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007387 intron_variant 0.115874 0.18209 0.05215 0.062308 0.615621217727336 0.0463496 2.96803315260187e-09 FALSE 4.06438e-06 ENSE00001007387_BRK ENSE00001007387 BRK 6 144744634 144744803 + 51 78 41 A,G; T,T NA NA NA GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCTTCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATCCAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC 144423497 144423667 NA NA NA NA NA NA GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCTTCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATCCAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC GGCATATGGAGGGACAATCAGTTTTACTTGCTTTTTTGTTTTATTTTCCAGCCAAAGGAACGTGGTTCCACAAGGGTACATGCCTTAAATAACGTCAACAGAGTGCTGCAGGTTTTACATCAGAACAATGTAAGTGTGTAATGTGAGTTCTGGGGGTCTGTGCTGCCATC control 61 34 0 0 0 NA NA NA NA NA 0.998141697533052 0.996382030680778 0.986828966980571 0.990596834169039 -0.998141697533052 -0.996382030680778 NA NA 0.997261864106915 0.988712900574805 -0.997261864106915 NA NA NA TRUE NA NA NA NA NA UTRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTRN NA NA NA ENSG00000152818 ENSE00001007387 NA NA NA NA NA NA NA 2.96803315260187e-09 FALSE NA ENSE00001007393_000 ENSE00001007393 000 6 144742970 144743139 + 44 93 33 NA NA NA NA NA GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 NA NA NA NA NA NA GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT natural 206 342 0.997015261770542 0.991806648489781 0.994410955130161 8879 4731 0.981688813134789 0.935699762644593 0.958694287889691 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 0 0 0 0 0.994410955130161 0.958694287889691 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTRN NA NA NA ENSG00000152818 ENSE00001007393 NA NA NA NA NA NA NA 2.96803315260187e-09 FALSE NA ENSE00001007393_001 ENSE00001007393 001 6 144742970 144743139 + 44 93 33 C T 144742982 2323 13 GCTGTTGGCATATCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421845 144421846 144421846 upstr_intron -32 -0.704545454545455 GCTGTTGGCATATCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 1412 1054 0.997908298662076 0.997613972514574 0.997761135588325 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.0162194855272871 0.0619142098699811 0.994410955130161 0.958694287889691 NA 0.0390668476986341 NA FALSE NA 0 0.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:144421846 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 intron_variant 0.145264 0.23338 0.03991 0.163922 0.253932776844694 0.0443366 2.96803315260187e-09 FALSE 0 ENSE00001007393_002 ENSE00001007393 002 6 144742970 144743139 + 44 93 33 C A 144742982 2324 13 GCTGTTGGCATAACCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421845 144421846 144421846 upstr_intron -32 -0.704545454545455 GCTGTTGGCATAACCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 512 553 0.999919594772503 0.993073377818861 0.996496486295682 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.0182307816377136 0.0573736151742686 0.994410955130161 0.958694287889691 NA 0.0378021984059911 NA FALSE NA 0 0.085 NA NA NA UTRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTRN NA NA NA ENSG00000152818 ENSE00001007393 intron_variant 0.138649 0.14487 0.00384 0.163922 0.35500456870771 0.0443366 2.96803315260187e-09 FALSE 1.75954e-05 ENSE00001007393_003 ENSE00001007393 003 6 144742970 144743139 + 44 93 33 A G 144742986 2325 17 GCTGTTGGCATACCCCGTATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421849 144421850 144421850 upstr_intron -28 -0.613636363636364 GCTGTTGGCATACCCCGTATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 376 588 1 0.832963153916562 0.916481576958281 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.018311186865211 -0.102736608728031 0.994410955130161 0.958694287889691 NA -0.0422127109314098 NA FALSE NA 0 -2.858 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 2/5 rs367677472 1 NA G:0 G:0.0003 CAT A,G 5.767e-05 6:144421850 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 intron_variant -0.163159 0.09732 0.02831 0.163922 0.504271192853247 0.0443366 2.96803315260187e-09 FALSE 3.45134e-05 ENSE00001007393_004 ENSE00001007393 004 6 144742970 144743139 + 44 93 33 T G 144742992 2326 23 GCTGTTGGCATACCCCATATTTGATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421855 144421856 144421856 upstr_intron -22 -0.477272727272727 GCTGTTGGCATACCCCATATTTGATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 1710 970 0.930400796722089 0.999836921957536 0.965118859339812 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA -0.0512880164127003 0.0641371593129429 0.994410955130161 0.958694287889691 NA 0.00642457145012132 NA FALSE NA 0.204 0.566 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 2/5 1 NA TTA T,G 0.0001153 6:144421856 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 intron_variant 0.331719 0.34944 0.22826 0.163922 0.505696207980675 0.0640786 2.96803315260187e-09 FALSE 8.90887e-05 ENSE00001007393_005 ENSE00001007393 005 6 144742970 144743139 + 44 93 33 T C 144743000 2327 31 GCTGTTGGCATACCCCATATTTTATTTGTGCTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421863 144421864 144421864 upstr_intron -14 -0.295454545454545 GCTGTTGGCATACCCCATATTTTATTTGTGCTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 466 1060 1 0.999314919289439 0.99965745964472 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.018311186865211 0.0636151566448466 0.994410955130161 0.958694287889691 NA 0.0409631717550288 NA FALSE NA 1 1.671 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 2/5 1 NA GTT T,C 8.237e-06 6:144421864 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 intron_variant -0.568133 0.4699 0.42442 0.322412 0.386084201302411 0.0650228 2.96803315260187e-09 FALSE 4.18753e-06 ENSE00001007393_006 ENSE00001007393 006 6 144742970 144743139 + 44 93 33 A C 144743010 2328 41 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTCCAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421873 144421874 144421874 upstr_intron -4 -0.0681818181818182 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTCCAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 217 197 0.999238932544696 0.990005198473092 0.994622065508894 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.0175501194099075 0.0543054358284997 0.994410955130161 0.958694287889691 NA 0.0359277776192036 NA FALSE NA 0 -1.178 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:144421874 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 splice_region_variant -0.420352 0.14234 0.05803 0.295142 0.486759262277005 0.168415 2.96803315260187e-09 FALSE 4.1425e-06 ENSE00001007393_007 ENSE00001007393 007 6 144742970 144743139 + 44 93 33 A G 144743010 2329 41 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTGCAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421873 144421874 144421874 upstr_intron -4 -0.0681818181818182 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTGCAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 1340 592 0.896830959619113 1 0.948415479809557 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA -0.0848578535156755 0.0643002373554074 0.994410955130161 0.958694287889691 NA -0.0102788080801341 NA FALSE NA 0 -1.178 NA NA NA UTRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTRN NA NA NA ENSG00000152818 ENSE00001007393 splice_region_variant -0.211023 0.13409 0.02833 0.295142 0.459540555075389 0.168415 2.96803315260187e-09 FALSE 4.1425e-06 ENSE00001007393_011 ENSE00001007393 011 6 144742970 144743139 + 44 93 33 A G 144743033 2333 64 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAGTGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421896 144421897 144421897 exon 20 0.21505376344086 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAGTGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 2412 1659 0.954207133444232 0.99889124064731 0.976549187045771 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA -0.0274816796905567 0.0631914780027177 0.994410955130161 0.958694287889691 NA 0.0178548991560805 NA FALSE NA 1 1.059 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 3/6 1 tolerated(0.47) benign(0) NA AAT A,G 8.236e-06 6:144421897 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 missense_variant 0.541627 0.96588 0.69799 0.706298 0.342779311255291 0 2.96803315260187e-09 FALSE NA ENSE00001007393_013 ENSE00001007393 013 6 144742970 144743139 + 44 93 33 G A 144743040 2335 71 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATATTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421903 144421904 144421904 exon 27 0.290322580645161 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATATTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 170 785 0.9906843773038 1 0.9953421886519 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.00899556416901137 0.0643002373554074 0.994410955130161 0.958694287889691 NA 0.0366479007622094 NA FALSE NA 1 5.971 rs144223166 missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 3/6 rs144223166 1 deleterious(0.01) benign(0.021) A:0.0010 A:0.0008 A:0.0043 NA A:0 A:0.001 A:0 A:0.0002 A:0.0006 TGT G,A 0.0003047 6:144421904 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 missense_variant 4.107938 0.98573 0.97006 0.706298 0.994438040954866 0 2.96803315260187e-09 FALSE 0.000301959 ENSE00001007393_014 ENSE00001007393 014 6 144742970 144743139 + 44 93 33 C T 144743045 2336 76 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCATAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421908 144421909 144421909 exon 32 0.344086021505376 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCATAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 116 183 1 0.999791768367454 0.999895884183727 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.018311186865211 0.064092005722861 0.994410955130161 0.958694287889691 NA 0.041201596294036 NA FALSE NA 1 4.313 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 3/6 1 tolerated(0.32) benign(0.044) NA ACA C,T 8.236e-06 6:144421909 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 missense_variant 6.374622 0.99165 0.95585 0.706298 0.99580987987347 0 2.96803315260187e-09 FALSE NA ENSE00001007393_015 ENSE00001007393 015 6 144742970 144743139 + 44 93 33 A G 144743053 2337 84 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCGAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421916 144421917 144421917 exon 40 0.43010752688172 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCGAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 276 1203 0.996651731160469 0.99820853199029 0.99743013157538 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.0149629180256797 0.0625087693456978 0.994410955130161 0.958694287889691 NA 0.0387358436856888 NA FALSE NA 1 4.543 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 3/6 1 deleterious(0) benign(0.068) NA CAA A,G 8.236e-06 6:144421917 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 missense_variant 3.050427 0.98962 0.96764 0.706298 0.997973498126767 0 2.96803315260187e-09 FALSE 2.0398e-05 ENSE00001007393_016 ENSE00001007393 016 6 144742970 144743139 + 44 93 33 A G 144743057 2338 88 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGGTGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421920 144421921 144421921 exon 44 0.473118279569892 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGGTGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 246 16 1 1 1 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.018311186865211 0.0643002373554074 0.994410955130161 0.958694287889691 NA 0.0413057121103092 NA FALSE NA 1 8.466 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 3/6 rs374425629 1 deleterious(0) probably_damaging(1) NA G:0 G:0.0001 GAT A,G 8.236e-06 6:144421921 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 missense_variant 6.402822 0.99364 0.99031 0.706298 0.998665480919661 0 2.96803315260187e-09 FALSE 4.0788e-06 ENSE00001007393_017 ENSE00001007393 017 6 144742970 144743139 + 44 93 33 T C 144743071 2339 102 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTACTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421934 144421935 144421935 exon -36 0.623655913978495 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTACTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 479 342 1 0.972688967256597 0.986344483628299 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.018311186865211 0.0369892046120046 0.994410955130161 0.958694287889691 NA 0.0276501957386078 NA FALSE NA 0.002 -0.067 . synonymous_variant LOW UTRN HGNC 12635 ENST00000421035 3/6 1 NA ATT T,C 1.647e-05 6:144421935 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 synonymous_variant 0.088228 0.23901 0.04808 0.706298 0.646698476612485 0 2.96803315260187e-09 FALSE 2.0406e-05 ENSE00001007393_018 ENSE00001007393 018 6 144742970 144743139 + 44 93 33 C T 144743093 2340 124 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCATAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421956 144421957 144421957 exon -14 0.860215053763441 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCATAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 45 246 1 0.986253717603388 0.993126858801694 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.018311186865211 0.0505539549587956 0.994410955130161 0.958694287889691 NA 0.0344325709120033 NA FALSE NA 0.998 3.487 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 3/6 1 deleterious(0.02) benign(0.1) NA ACA C,T 8.237e-06 6:144421957 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 missense_variant 2.498593 0.97862 0.931 0.706298 0.991279949123657 0 2.96803315260187e-09 FALSE 4.10775e-06 ENSE00001007393_019 ENSE00001007393 019 6 144742970 144743139 + 44 93 33 A G 144743094 2341 125 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACGGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421957 144421958 144421958 exon -13 0.870967741935484 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACGGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 405 199 0.99815646955378 0.879765034021057 0.938960751787418 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.0164676564189907 -0.0559347286235354 0.994410955130161 0.958694287889691 NA -0.0197335361022724 NA FALSE NA 0.422 -0.242 . synonymous_variant LOW UTRN HGNC 12635 ENST00000421035 3/6 1 NA CAG A,G 8.237e-06 6:144421958 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 synonymous_variant 0.326378 0.94878 0.39142 0.706298 0.699506624766988 0 2.96803315260187e-09 FALSE 8.21423e-06 ENSE00001007393_020 ENSE00001007393 020 6 144742970 144743139 + 44 93 33 C T 144743102 2342 133 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATTACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT 144421833 144422003 144421965 144421966 144421966 exon -5 0.956989247311828 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATTACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 317 273 1 1 1 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.018311186865211 0.0643002373554074 0.994410955130161 0.958694287889691 NA 0.0413057121103092 NA FALSE NA 0.906 3.052 . missense_variant MODERATE UTRN HGNC 12635 ENST00000421035 3/6 1 tolerated(0.08) benign(0.125) NA TCA C,T 8.237e-06 6:144421966 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 missense_variant 4.126904 0.53151 0.73687 0.706298 0.995071404270833 0 2.96803315260187e-09 FALSE 4.15124e-06 ENSE00001007393_022 ENSE00001007393 022 6 144742970 144743139 + 44 93 33 T A 144743119 2344 150 AGACTCCGTTGTTTACAAAGTTGACTTGCTCACCAGTGATGTTCCTGTGAGGCCTTCTAGAAGATCCAATAGCTTCCTTCCATCTTTGAGGTCTGTGAACATATCATTGATGGGTGGTTTCCCACTCTGTAAAAGAAAAACACAAATAAAATATGGGGTATGCCAACAGC 144421833 144422003 144421982 144421983 144421983 downstr_intron 13 1.40625 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCAACTTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 706 11 0.997644760665592 1 0.998822380332796 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA 0.0159559475308032 0.0643002373554074 0.994410955130161 0.958694287889691 NA 0.0401280924431053 NA FALSE NA 0 -0.131 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 3/5 1 NA ATC T,A 2.471e-05 6:144421983 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 intron_variant 1.630119 0.26147 0.20051 0.099367 0.76345463851302 0.0862473 2.96803315260187e-09 FALSE 1.26316e-05 ENSE00001007393_023 ENSE00001007393 023 6 144742970 144743139 + 44 93 33 C A 144743120 2345 151 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATATTTGTAAACAACGGAGTCT 144421833 144422003 144421983 144421984 144421984 downstr_intron 14 1.4375 GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATATTTGTAAACAACGGAGTCT GCTGTTGGCATACCCCATATTTTATTTGTGTTTTTCTTTTACAGAGTGGGAAACCACCCATCAATGATATGTTCACAGACCTCAAAGATGGAAGGAAGCTATTGGATCTTCTAGAAGGCCTCACAGGAACATCACTGGTGAGCAAGTCATCTTTGTAAACAACGGAGTCT mutant NA NA NA NA NA 621 804 0.937150369692117 0.995450911921874 0.966300640806995 0.997015261770542 0.991806648489781 0.981688813134789 0.935699762644593 NA NA -0.0445384434426721 0.059751149277281 0.994410955130161 0.958694287889691 NA 0.00760635291730444 NA FALSE NA 0 -0.454 . intron_variant MODIFIER UTRN HGNC 12635 ENST00000421035 3/5 1 NA TCT C,A 1.647e-05 6:144421984 UTRN HGNC Symbol protein_coding 567333 ENSG00000152818 ENSE00001007393 intron_variant 1.557007 0.21597 0.05045 0.099367 0.692471361588938 0.0862473 2.96803315260187e-09 FALSE 4.22066e-06 ENSE00001007663_000 ENSE00001007663 000 1 231333075 231333244 + 42 96 32 NA NA NA NA NA AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 NA NA NA NA NA NA TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT natural 39 36 0.998540626941822 0.993838284704455 0.996189455823139 3261 3105 0.966603884961384 0.955201882104856 0.96090288353312 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 0 0 0 0 0.996189455823139 0.96090288353312 0 0 0 FALSE FALSE NA NA NA NA NA TRIM67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM67 NA NA NA ENSG00000119283 ENSE00001007663 NA NA NA NA NA NA NA 0.672039658016629 FALSE NA ENSE00001007663_001 ENSE00001007663 001 1 231333075 231333244 + 42 96 32 C T 231333098 5256 24 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATATTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197351 231197352 231197352 upstr_intron -19 -0.428571428571429 TCACAACTAATTTTTCTTTTCAATATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 93 1424 1 0.999973270341348 0.999986635170674 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0333961150386163 0.0447713882364921 0.996189455823139 0.96090288353312 NA 0.0390837516375542 NA FALSE NA 0 -1.493 . intron_variant MODIFIER TRIM67 HGNC 31859 ENST00000444294 1/9 1 NA ACA C,T 8.276e-06 1:231197352 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 intron_variant -0.733865 0.12287 0.01703 0.053691 0.185894896423143 0.0980849 0.672039658016629 FALSE 4.1154e-06 ENSE00001007663_003 ENSE00001007663 003 1 231333075 231333244 + 42 96 32 T C 231333102 5258 28 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCGCATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197355 231197356 231197356 upstr_intron -15 -0.333333333333333 TCACAACTAATTTTTCTTTTCAACATGCGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 846 286 0.999818818129919 1 0.999909409064959 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0332149331685352 0.0447981178951441 0.996189455823139 0.96090288353312 NA 0.0390065255318396 NA FALSE NA 0.002 1.505 . intron_variant MODIFIER TRIM67 HGNC 31859 ENST00000444294 1/9 1 NA GTG T,C 8.276e-06 1:231197356 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 intron_variant -0.265223 0.24961 0.27128 0.053691 0.641033436741584 0.135243 0.672039658016629 FALSE 8.20304e-06 ENSE00001007663_004 ENSE00001007663 004 1 231333075 231333244 + 42 96 32 A G 231333115 5259 41 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCCGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197368 231197369 231197369 upstr_intron -2 -0.0238095238095238 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCGGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant 17 11 0 0 0 292 2930 0.10568017475865 0.00150691081216326 0.0535935427854067 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 -0.998540626941822 -0.993838284704455 -0.860923710202734 -0.953694971292693 0.996189455823139 0.96090288353312 -0.996189455823139 -0.907309340747713 0.0888801150754257 TRUE TRUE 1 8.891 . splice_acceptor_variant HIGH TRIM67 HGNC 31859 ENST00000444294 1/9 1 NA HC CAG A,G 8.276e-06 1:231197369 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 splice_acceptor_variant 4.754956 0.99341 0.99661 0.053691 0.995573738488292 0.977447 0.672039658016629 FALSE 8.20897e-06 ENSE00001007663_005 ENSE00001007663 005 1 231333075 231333244 + 42 96 32 T G 231333128 5260 54 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGCGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197381 231197382 231197382 exon 12 0.125 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCGCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 1260 501 0.996206740976964 0.997466159448535 0.996836450212749 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0296028560155802 0.042264277343679 0.996189455823139 0.96090288353312 NA 0.0359335666796296 NA FALSE NA 1 1.286 . synonymous_variant LOW TRIM67 HGNC 31859 ENST00000444294 2/10 1 NA CTC T,G 8.276e-06 1:231197382 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 synonymous_variant 0.674054 0.97794 0.88329 0.497415 0.787751760250709 0 0.672039658016629 FALSE 4.06273e-06 ENSE00001007663_006 ENSE00001007663 006 1 231333075 231333244 + 42 96 32 G T 231333132 5261 58 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGACTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197385 231197386 231197386 exon 16 0.166666666666667 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGTCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 112 1159 1 0.991088296464659 0.99554414823233 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0333961150386163 0.0358864143598031 0.996189455823139 0.96090288353312 NA 0.0346412646992097 NA FALSE NA 1 9.411 . missense_variant MODERATE TRIM67 HGNC 31859 ENST00000444294 2/10 COSM1601891&COSM1601890 1 tolerated(0.24) benign(0.099) NA GGC G,T 8.276e-06 1:231197386 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 missense_variant 4.288422 0.9952 0.9915 0.497415 0.987438676519234 0 0.672039658016629 FALSE 4.06253e-06 ENSE00001007663_009 ENSE00001007663 009 1 231333075 231333244 + 42 96 32 G C 231333179 5264 105 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACGAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197432 231197433 231197433 exon -34 0.65625 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTCGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 3393 420 0.996960145977144 0.985805956938385 0.991383051457765 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0303562610157605 0.0306040748335296 0.996189455823139 0.96090288353312 NA 0.030480167924645 NA FALSE NA 1 2.38 . synonymous_variant LOW TRIM67 HGNC 31859 ENST00000444294 2/10 1 NA TGG G,C 2.482e-05 1:231197433 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 synonymous_variant 0.882253 0.97776 0.90366 0.497415 0.808545705412546 0 0.672039658016629 FALSE 2.03079e-05 ENSE00001007663_010 ENSE00001007663 010 1 231333075 231333244 + 42 96 32 T C 231333187 5265 113 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTGGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197440 231197441 231197441 exon -26 0.739583333333333 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCCAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 220 114 0.994445709300921 1 0.997222854650461 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0278418243395374 0.0447981178951441 0.996189455823139 0.96090288353312 NA 0.0363199711173408 NA FALSE NA 1 7.645 . missense_variant MODERATE TRIM67 HGNC 31859 ENST00000444294 2/10 1 deleterious(0) possibly_damaging(0.551) NA CTA T,C 8.273e-06 1:231197441 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 missense_variant 4.483307 0.99322 0.98129 0.497415 0.999189127131525 0 0.672039658016629 FALSE 4.06151e-06 ENSE00001007663_012 ENSE00001007663 012 1 231333075 231333244 + 42 96 32 A G 231333195 5267 121 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATACGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197448 231197449 231197449 exon -18 0.822916666666667 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACGTATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 124 705 1 1 1 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0333961150386163 0.0447981178951441 0.996189455823139 0.96090288353312 NA 0.0390971164668802 NA FALSE NA 0.999 2.177 . missense_variant MODERATE TRIM67 HGNC 31859 ENST00000444294 2/10 rs374943785 1 deleterious(0.02) benign(0.089) G:0.0006 G:0 G:0 NA G:0.003 G:0 G:0 CAT A,G 0.0001324 1:231197449 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 missense_variant 3.407362 0.98159 0.89152 0.497415 0.994900931433174 0 0.672039658016629 FALSE 8.12328e-05 ENSE00001007663_013 ENSE00001007663 013 1 231333075 231333244 + 42 96 32 C T 231333209 5268 135 AGTATTTCTCCCGACGCCAGAGCTGTGCTCACCTGAATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197462 231197463 231197463 exon -4 0.96875 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATTCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 1293 317 0.999137370277507 0.999518338142353 0.99932785420993 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0325334853161233 0.044316456037497 0.996189455823139 0.96090288353312 NA 0.0384249706768102 NA FALSE NA 1 0.803 . synonymous_variant LOW TRIM67 HGNC 31859 ENST00000444294 2/10 1 NA TCC C,T 8.272e-06 1:231197463 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 synonymous_variant 1.948687 0.97753 0.82457 0.497415 0.79920757840654 0 0.672039658016629 FALSE 8.12367e-06 ENSE00001007663_014 ENSE00001007663 014 1 231333075 231333244 + 42 96 32 C A 231333220 5269 146 AGTATTTCTCCCGACGCCAGAGCTTTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197473 231197474 231197474 downstr_intron 8 1.25806451612903 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCAAAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 446 157 0.991225800229517 1 0.995612900114758 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0246219152681333 0.0447981178951441 0.996189455823139 0.96090288353312 NA 0.0347100165816387 NA FALSE NA 0 -2.059 . splice_region_variant&intron_variant LOW TRIM67 HGNC 31859 ENST00000444294 2/9 rs546533927 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 ACA C,A 2.482e-05 1:231197474 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 splice_region_variant -0.306937 0.15369 0.01097 0.06567 0.488784836976029 0.105903 0.672039658016629 FALSE 1.62493e-05 ENSE00001007663_015 ENSE00001007663 015 1 231333075 231333244 + 42 96 32 T C 231333224 5270 150 AGTATTTCTCCCGACGCCAGGGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197477 231197478 231197478 downstr_intron 12 1.38709677419355 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCCCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 26 1065 1 0.984491936216153 0.992245968108076 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0333961150386163 0.0292900541112968 0.996189455823139 0.96090288353312 NA 0.0313430845749565 NA FALSE NA 0 -0.426 . intron_variant MODIFIER TRIM67 HGNC 31859 ENST00000444294 2/9 1 NA CTC T,C 8.273e-06 1:231197478 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 intron_variant -0.024059 0.26986 0.01978 0.06567 0.368782590326204 0.0945736 0.672039658016629 FALSE 8.12935e-06 ENSE00001007663_017 ENSE00001007663 017 1 231333075 231333244 + 42 96 32 G A 231333230 5272 156 AGTATTTCTCCCGATGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197483 231197484 231197484 downstr_intron 18 1.58064516129032 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCATCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 224 111 1 0.901795435923728 0.950897717961864 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0333961150386163 -0.0534064461811274 0.996189455823139 0.96090288353312 NA -0.0100051655712556 NA FALSE NA 0 -1.336 . intron_variant MODIFIER TRIM67 HGNC 31859 ENST00000444294 2/9 rs374407015 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0.0003 A:0.0005 CGT G,A 0.0002068 1:231197484 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 intron_variant -0.359986 0.22717 0.00827 0.06567 0.424497957806152 0.0647611 0.672039658016629 FALSE 0.000252236 ENSE00001007663_019 ENSE00001007663 019 1 231333075 231333244 + 42 96 32 C A 231333232 5274 158 AGTATTTCTCCCTACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197485 231197486 231197486 downstr_intron 20 1.64516129032258 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTAGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 69 389 1 0.999593221867581 0.99979661093379 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0333961150386163 0.0443913397627249 0.996189455823139 0.96090288353312 NA 0.0388937274006706 NA FALSE NA 0 -2.962 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:231197486 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 intron_variant -0.472427 0.18194 0.00666 0.06567 0.370242063842512 0.0647611 0.672039658016629 FALSE 1.22125e-05 ENSE00001007663_020 ENSE00001007663 020 1 231333075 231333244 + 42 96 32 G A 231333233 5275 159 AGTATTTCTCCTGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197486 231197487 231197487 downstr_intron 21 1.67741935483871 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCAGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 537 1574 0.996199978743921 0.872871496446096 0.934535737595009 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0295960937825371 -0.0823303856587595 0.996189455823139 0.96090288353312 NA -0.0263671459381112 NA FALSE NA 0 -1.432 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:231197487 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 intron_variant -0.46972 0.2184 0.00577 0.06567 0.768236987016547 0.0647611 0.672039658016629 FALSE 3.25598e-05 ENSE00001007663_021 ENSE00001007663 021 1 231333075 231333244 + 42 96 32 G T 231333233 5276 159 AGTATTTCTCCAGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197486 231197487 231197487 downstr_intron 21 1.67741935483871 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCTGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 179 143 0.990175686534321 0.999733424299094 0.994954555416707 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.023571801572937 0.0445315421942378 0.996189455823139 0.96090288353312 NA 0.0340516718835874 NA FALSE NA 0 -1.432 NA NA NA TRIM67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM67 NA NA NA ENSG00000119283 ENSE00001007663 intron_variant -0.733286 0.22658 0.01164 0.06567 0.627494449589487 0.0647611 0.672039658016629 FALSE 0.000199429 ENSE00001007663_022 ENSE00001007663 022 1 231333075 231333244 + 42 96 32 G A 231333234 5277 160 AGTATTTCTCTCGACGCCAGAGCTGTGCTCACCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCCTGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 231197487 231197488 231197488 downstr_intron 22 1.70967741935484 TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGAGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT mutant NA NA NA NA NA 883 241 0.997312755489775 0.999841931923914 0.998577343706845 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 NA NA 0.0307088705283918 0.0446400498190577 0.996189455823139 0.96090288353312 NA 0.0376744601737247 NA FALSE NA 0.009 0.265 . intron_variant MODIFIER TRIM67 HGNC 31859 ENST00000444294 2/9 1 NA GGG G,A 8.273e-06 1:231197488 TRIM67 HGNC Symbol protein_coding 59444 ENSG00000119283 ENSE00001007663 intron_variant -0.066451 0.25993 0.01426 0.06567 0.643451517930778 0.0647611 0.672039658016629 FALSE 4.07063e-06 ENSE00001007663_BRK ENSE00001007663 BRK 1 231333075 231333244 + 42 96 32 A,G; T,T NA NA NA AGTATTTCTCCCGACGCCAGAGCTGTGCTCGGCTGGATCTGCTGCAATATGTTCTTTAGCTGAACCAGAAACTCCTTTGCTTCCTTTGCCTTATCTGAAACTCCATTTAAGGCCTGAGATAGTTGTGCAAGAAAAAGATATCACATGTTGAAAAGAAAAATTAGTTGTGA 231197328 231197498 NA NA NA NA NA NA TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCTTGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGCCGAGCACAGCTCTGGCGTCGGGAGAAATACT TCACAACTAATTTTTCTTTTCAACATGTGATATCTTTTTCAGGCACAACTATCTCAGGCCTTAAATGGAGTTTCAGATAAGGCAAAGGAAGCAAAGGAGTTTCTGGTTCAGCTAAAGAACATATTGCAGCAGATCCAGGTGAGCACAGCTCTGGCGTCGGGAGAAATACT control 18 64 0 0 0 418 144 0 0 0 0.998540626941822 0.993838284704455 0.966603884961384 0.955201882104856 -0.998540626941822 -0.993838284704455 -0.966603884961384 -0.955201882104856 0.996189455823139 0.96090288353312 -0.996189455823139 -0.96090288353312 0.035286572290019 TRUE TRUE NA NA NA NA NA TRIM67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM67 NA NA NA ENSG00000119283 ENSE00001007663 NA NA NA NA NA NA NA 0.672039658016629 FALSE NA ENSE00001008085_000 ENSE00001008085 000 4 5730986 5731155 + 48 84 38 NA NA NA NA NA TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 NA NA NA NA NA NA TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT natural NA NA NA NA NA 696 1815 0.991865753032635 0.887731082075128 0.939798417553882 NA NA 0.991865753032635 0.887731082075128 NA NA 0 0 NA 0.939798417553882 NA 0 NA FALSE NA NA NA NA NA NA EVC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EVC NA NA NA ENSG00000072840 ENSE00001008085 NA NA NA NA NA NA NA 8.01499590160707e-08 FALSE NA ENSE00001008085_001 ENSE00001008085 001 4 5730986 5731155 + 48 84 38 G A 5730997 256 12 AGTAACTGGCTTTCTATGATGGAGCTCAGGACTCTCACCCGGAACTTCTGATTGATGGGGTAGATGACTTTGGCCTTCAGGGCGAATGCTGTGATATTGCTGTTGGAAGGCGGCTCACATTCCTGGGAGGGAAAGACACAAACGGCATGGGAAACTTTTTGTAAAATGAA 5729258 5729428 5729269 5729270 5729270 upstr_intron -37 -0.75 TTCATTTTACAAAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 1140 120 0.997706884037171 1 0.998853442018586 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0058411310045362 0.112268917924872 NA 0.939798417553882 NA 0.0590550244647039 NA FALSE NA 0.052 0.444 . intron_variant MODIFIER EVC HGNC 3497 ENST00000382674 2/23 1 NA AGA G,A 8.236e-06 4:5729270 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 intron_variant 0.132684 0.16829 0.05417 0.106106 0.735671768198623 0.0977633 8.01499590160707e-08 FALSE 4.06091e-06 ENSE00001008085_003 ENSE00001008085 003 4 5730986 5731155 + 48 84 38 T C 5731004 258 19 AGTAACTGGCTTTCTATGATGGAGCTCAGGACTCTCACCCGGAACTTCTGATTGATGGGGTAGATGACTTTGGCCTTCAGGGCGAATGCTGTGATATTGCTGTTGGAAGGCGGCTCACATTCCTGGGAGGGAAAGACACAAACGGCATGGGGAACTTTCTGTAAAATGAA 5729258 5729428 5729276 5729277 5729277 upstr_intron -30 -0.604166666666667 TTCATTTTACAGAAAGTTCCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 116 251 1 1 1 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0081342469673652 0.112268917924872 NA 0.939798417553882 NA 0.0602015824461184 NA FALSE NA 0 -0.264 . intron_variant MODIFIER EVC HGNC 3497 ENST00000382674 2/23 rs199748764 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TTC T,C 8.236e-06 4:5729277 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 intron_variant -0.015919 0.17057 0.0053 0.106106 0.351855261727638 0.0977633 8.01499590160707e-08 FALSE 4.06088e-06 ENSE00001008085_005 ENSE00001008085 005 4 5730986 5731155 + 48 84 38 C T 5731011 260 26 TTCATTTTACAGAAAGTTTCCCATGTCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729283 5729284 5729284 upstr_intron -23 -0.458333333333333 TTCATTTTACAGAAAGTTTCCCATGTCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 221 770 0.995110109870357 0.999695488222211 0.997402799046284 NA NA 0.991865753032635 0.887731082075128 NA NA 0.00324435683772173 0.111964406147082 NA 0.939798417553882 NA 0.057604381492402 NA FALSE NA 0 -1.094 . intron_variant MODIFIER EVC HGNC 3497 ENST00000382674 2/23 rs368345423 1 NA T:0.0002 T:0 GCC C,T 8.236e-06 4:5729284 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 intron_variant 0.168478 0.19688 0.01344 0.163922 0.504278993428515 0.0977633 8.01499590160707e-08 FALSE 4.06078e-06 ENSE00001008085_007 ENSE00001008085 007 4 5730986 5731155 + 48 84 38 G T 5731013 262 28 TTCATTTTACAGAAAGTTTCCCATGCCTTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729285 5729286 5729286 upstr_intron -21 -0.416666666666667 TTCATTTTACAGAAAGTTTCCCATGCCTTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 25 67 1 1 1 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0081342469673652 0.112268917924872 NA 0.939798417553882 NA 0.0602015824461184 NA FALSE NA 0 -1.476 NA NA NA EVC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:5729286 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 intron_variant -0.326146 0.11729 0.00365 0.163922 0.577039542887382 0.0977633 8.01499590160707e-08 FALSE 4.06081e-06 ENSE00001008085_008 ENSE00001008085 008 4 5730986 5731155 + 48 84 38 C T 5731026 263 41 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCTCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729298 5729299 5729299 upstr_intron -8 -0.145833333333333 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCTCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 200 572 1 0.994360074110219 0.99718003705511 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0081342469673652 0.106628992035091 NA 0.939798417553882 NA 0.0573816195012281 NA FALSE NA 0 -0.138 . splice_region_variant&intron_variant LOW EVC HGNC 3497 ENST00000382674 2/23 1 NA CCC C,T 8.236e-06 4:5729299 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 splice_region_variant 0.276372 0.19288 0.05209 0.322412 0.412440474078498 0.162792 8.01499590160707e-08 FALSE 4.06062e-06 ENSE00001008085_009 ENSE00001008085 009 4 5730986 5731155 + 48 84 38 C T 5731027 264 42 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCTTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729299 5729300 5729300 upstr_intron -7 -0.125 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCTTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 776 298 0.991834013759945 0.998937087352482 0.995385550556213 NA NA 0.991865753032635 0.887731082075128 NA NA -3.17392726901788e-05 0.111206005277354 NA 0.939798417553882 NA 0.0555871330023319 NA FALSE NA 0.008 0.831 . splice_region_variant&intron_variant LOW EVC HGNC 3497 ENST00000382674 2/23 1 NA CCT C,T 8.236e-06 4:5729300 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 splice_region_variant 0.241561 0.14516 0.01024 0.322412 0.352553367279804 0.16455 8.01499590160707e-08 FALSE 4.06072e-06 ENSE00001008085_010 ENSE00001008085 010 4 5730986 5731155 + 48 84 38 A C 5731035 265 50 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGCATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729307 5729308 5729308 exon 2 0.0238095238095238 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGCATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 1246 286 0.990331293480202 1 0.995165646740101 NA NA 0.991865753032635 0.887731082075128 NA NA -0.00153445955243248 0.112268917924872 NA 0.939798417553882 NA 0.0553672291862196 NA FALSE NA 0.803 1.302 . missense_variant&splice_region_variant MODERATE EVC HGNC 3497 ENST00000382674 3/24 1 deleterious(0.01) possibly_damaging(0.864) NA GAA A,C 8.236e-06 4:5729308 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 missense_variant 2.35595 0.80173 0.5646 0.732398 0.95791844564746 0 8.01499590160707e-08 FALSE 4.06068e-06 ENSE00001008085_011 ENSE00001008085 011 4 5730986 5731155 + 48 84 38 C T 5731044 266 59 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCTGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729316 5729317 5729317 exon 11 0.130952380952381 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCTGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 37 97 1 1 1 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0081342469673652 0.112268917924872 NA 0.939798417553882 NA 0.0602015824461184 NA FALSE NA 0.841 1.448 . missense_variant MODERATE EVC HGNC 3497 ENST00000382674 3/24 rs201640469&COSM3781173 1 tolerated(0.08) benign(0.334) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 3.295e-05 4:5729317 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 missense_variant 2.736603 0.28301 0.53085 0.732398 0.992475040084868 0 8.01499590160707e-08 FALSE 5.68491e-05 ENSE00001008085_013 ENSE00001008085 013 4 5730986 5731155 + 48 84 38 C A 5731047 268 62 AGTAACTGGCTTTCTATGATGGAGCTCAGGACTCTCACCCGGAACTTCTGATTGATGGGGTAGATGACTTTGGCCTTCAGGGCGAATGCTGTGATATTGCTGTTGGAATGCGGCTCACATTCCTGGGAGGGAAAGACACAAACGGCATGGGAAACTTTCTGTAAAATGAA 5729258 5729428 5729319 5729320 5729320 exon 14 0.166666666666667 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCATTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 162 64 0.86444071984329 0.893685166647991 0.87906294324564 NA NA 0.991865753032635 0.887731082075128 NA NA -0.127425033189345 0.00595408457286251 NA 0.939798417553882 NA -0.0607354743082414 NA FALSE NA 0.958 2.948 . missense_variant MODERATE EVC HGNC 3497 ENST00000382674 3/24 1 deleterious(0) possibly_damaging(0.639) NA CCT C,A 8.236e-06 4:5729320 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 missense_variant 3.131034 0.42751 0.7823 0.732398 0.990076198486111 0 8.01499590160707e-08 FALSE 4.06075e-06 ENSE00001008085_018 ENSE00001008085 018 4 5730986 5731155 + 48 84 38 G T 5731073 273 88 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCTCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729345 5729346 5729346 exon 40 0.476190476190476 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCTCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 320 316 0.783999576022436 0.914794408462983 0.849396992242709 NA NA 0.991865753032635 0.887731082075128 NA NA -0.207866177010199 0.0270633263878544 NA 0.939798417553882 NA -0.0904014253111722 NA FALSE NA 1 5.582 NA NA NA EVC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:5729346 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 missense_variant 5.39167 0.98603 0.96944 0.732398 0.997135079217725 0 8.01499590160707e-08 FALSE 1.2182e-05 ENSE00001008085_021 ENSE00001008085 021 4 5730986 5731155 + 48 84 38 G T 5731082 276 97 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGTCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729354 5729355 5729355 exon -36 0.583333333333333 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGTCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 250 599 0.998675597338716 0.993609802600132 0.996142699969424 NA NA 0.991865753032635 0.887731082075128 NA NA 0.00680984430608123 0.105878720525003 NA 0.939798417553882 NA 0.0563442824155422 NA FALSE NA 1 5.582 . missense_variant MODERATE EVC HGNC 3497 ENST00000382674 3/24 1 deleterious(0) probably_damaging(0.998) NA GGC G,T 8.236e-06 4:5729355 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 missense_variant 5.453137 0.98603 0.96944 0.732398 0.997700995183891 0 8.01499590160707e-08 FALSE 4.06068e-06 ENSE00001008085_023 ENSE00001008085 023 4 5730986 5731155 + 48 84 38 A G 5731100 278 115 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCGTCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729372 5729373 5729373 exon -18 0.797619047619048 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCGTCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 872 410 0.999120165046363 1 0.999560082523181 NA NA 0.991865753032635 0.887731082075128 NA NA 0.00725441201372778 0.112268917924872 NA 0.939798417553882 NA 0.0597616649692997 NA FALSE NA 1 5.284 . missense_variant MODERATE EVC HGNC 3497 ENST00000382674 3/24 1 deleterious(0) probably_damaging(0.994) NA CAT A,G 1.647e-05 4:5729373 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 missense_variant 5.668431 0.98286 0.96327 0.732398 0.998667955160438 0 8.01499590160707e-08 FALSE 2.03037e-05 ENSE00001008085_024 ENSE00001008085 024 4 5730986 5731155 + 48 84 38 G A 5731116 279 131 AGTAACTGGCTTTCTATGATGGAGCTCAGGACTCTCACCTGGAACTTCTGATTGATGGGGTAGATGACTTTGGCCTTCAGGGCGAATGCTGTGATATTGCTGTTGGAAGGCGGCTCACATTCCTGGGAGGGAAAGACACAAACGGCATGGGAAACTTTCTGTAAAATGAA 5729258 5729428 5729388 5729389 5729389 exon -2 0.988095238095238 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCAGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 49 196 1 0.966088795361581 0.98304439768079 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0081342469673652 0.0783577132864524 NA 0.939798417553882 NA 0.0432459801269088 NA FALSE NA 1 5.582 . missense_variant&splice_region_variant MODERATE EVC HGNC 3497 ENST00000382674 3/24 1 deleterious(0) probably_damaging(0.999) NA CGG G,A 8.236e-06 4:5729389 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 missense_variant 7.499414 0.98561 0.96454 0.732398 0.999561754065765 0 8.01499590160707e-08 FALSE 4.06105e-06 ENSE00001008085_026 ENSE00001008085 026 4 5730986 5731155 + 48 84 38 C G 5731132 281 147 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGGTCCATCATAGAAAGCCAGTTACT 5729258 5729428 5729404 5729405 5729405 downstr_intron 15 1.40540540540541 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGGTCCATCATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 14 558 1 0.997646887414868 0.998823443707434 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0081342469673652 0.10991580533974 NA 0.939798417553882 NA 0.0590250261535524 NA FALSE NA 0 -0.084 . intron_variant MODIFIER EVC HGNC 3497 ENST00000382674 3/23 1 NA GCT C,G 8.236e-06 4:5729405 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 intron_variant 0.067642 0.21861 0.12033 0.156188 0.350245999446671 0.0715842 8.01499590160707e-08 FALSE NA ENSE00001008085_029 ENSE00001008085 029 4 5730986 5731155 + 48 84 38 C A 5731138 284 153 AGTAACTGGCTTTCTATTATGGAGCTCAGGACTCTCACCCGGAACTTCTGATTGATGGGGTAGATGACTTTGGCCTTCAGGGCGAATGCTGTGATATTGCTGTTGGAAGGCGGCTCACATTCCTGGGAGGGAAAGACACAAACGGCATGGGAAACTTTCTGTAAAATGAA 5729258 5729428 5729410 5729411 5729411 downstr_intron 21 1.56756756756757 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATAATAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 27 162 1 0.999764735518444 0.999882367759222 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0081342469673652 0.112033653443316 NA 0.939798417553882 NA 0.0600839502053406 NA FALSE NA 0 -0.194 . intron_variant MODIFIER EVC HGNC 3497 ENST00000382674 3/23 1 NA TCA C,A 8.236e-06 4:5729411 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 intron_variant 0.252487 0.15832 0.07204 0.106106 0.515836706161506 0.0715842 8.01499590160707e-08 FALSE NA ENSE00001008085_030 ENSE00001008085 030 4 5730986 5731155 + 48 84 38 A G 5731139 285 154 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCGTAGAAAGCCAGTTACT 5729258 5729428 5729411 5729412 5729412 downstr_intron 22 1.59459459459459 TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCGTAGAAAGCCAGTTACT TTCATTTTACAGAAAGTTTCCCATGCCGTTTGTGTCTTTCCCTCCCAGGAATGTGAGCCGCCTTCCAACAGCAATATCACAGCATTCGCCCTGAAGGCCAAAGTCATCTACCCCATCAATCAGAAGTTCCGGGTGAGAGTCCTGAGCTCCATCATAGAAAGCCAGTTACT mutant NA NA NA NA NA 292 140 1 0.982666593911482 0.991333296955741 NA NA 0.991865753032635 0.887731082075128 NA NA 0.0081342469673652 0.0949355118363535 NA 0.939798417553882 NA 0.0515348794018594 NA FALSE NA 0 -0.338 . intron_variant MODIFIER EVC HGNC 3497 ENST00000382674 3/23 1 NA CAT A,G 8.236e-06 4:5729412 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00001008085 intron_variant -0.145392 0.133 0.02526 0.106106 0.153948169665108 0.0715842 8.01499590160707e-08 FALSE 8.12269e-06 ENSE00001008594_000 ENSE00001008594 000 16 10783761 10783930 - 38 84 48 NA NA NA NA NA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 NA NA NA NA NA NA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA natural NA NA NA NA NA 741 496 0.998827835919749 0.981880591901837 0.990354213910793 NA NA 0.998827835919749 0.981880591901837 NA NA 0 0 NA 0.990354213910793 NA 0 NA FALSE NA NA NA NA NA NA TEKT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEKT5 NA NA NA ENSG00000153060 ENSE00001008594 NA NA NA NA NA NA NA 1.10256706066914e-14 FALSE NA ENSE00001008594_004 ENSE00001008594 004 16 10783761 10783930 - 38 84 48 C T 10783778 783 153 TCCTTCAGGGGGCTGGGTAGAACCAGGAGATGCCTTACCCGGATAAGGTTTTTCTCCACGTTGTCATGGACCAAATCAATCCCAATCCTCTTCTCTCGATGGTACAGACACTCCAAGGCCACCTGTGGGAAGCAGCAGAAAGAACGTATTCTTCCTGTAGCTGTATGTAG 10689903 10690073 10689920 10689921 10689921 downstr_intron 21 1.56756756756757 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTACCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 64 29 1 1 1 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0181194080981626 NA 0.990354213910793 NA 0.00964578608920691 NA FALSE NA 0 -0.126 . intron_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/4 1 NA GCA C,T 8.236e-06 16:10689921 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 intron_variant 0.409344 0.21299 0.0452 0.074636 0.812224577687039 0.0469281 1.10256706066914e-14 FALSE 4.06904e-06 ENSE00001008594_007 ENSE00001008594 007 16 10783761 10783930 - 38 84 48 C G 10783783 786 148 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGCTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10689925 10689926 10689926 downstr_intron 16 1.43243243243243 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGCTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 143 676 0.8 0.997192852036416 0.898596426018208 NA NA 0.998827835919749 0.981880591901837 NA NA -0.198827835919749 0.0153122601345781 NA 0.990354213910793 NA -0.0917577878925853 NA FALSE NA 0 0.535 . intron_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/4 rs368495456 1 NA G:0.0007 G:0 ACC C,G 3.295e-05 16:10689926 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 intron_variant 0.267836 0.24353 0.13059 0.074636 0.584379252559067 0.0469281 1.10256706066914e-14 FALSE 1.62599e-05 ENSE00001008594_008 ENSE00001008594 008 16 10783761 10783930 - 38 84 48 C A 10783784 787 147 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTTGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10689926 10689927 10689927 downstr_intron 15 1.40540540540541 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTTGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 36 87 1 0.999561362930855 0.999780681465428 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0176807710290179 NA 0.990354213910793 NA 0.00942646755463455 NA FALSE NA 0 0.057 rs1344517 intron_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/4 rs1344517 1 A:0.0667 A:0 A:0.0418 NA A:0.1756 A:0.001 A:0.1299 A:0.0011 A:0.0022 CCA C,A 0.036 16:10689927 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 intron_variant 0.097389 0.18079 0.01274 0.074636 0.536713625637773 0.0469281 1.10256706066914e-14 FALSE 0.0371077 ENSE00001008594_013 ENSE00001008594 013 16 10783761 10783930 - 38 84 48 C T 10783816 792 115 TCCTTCAGGGGGCTGGGCAGAACCAGGAGATGCCTTACCCGGATAAGGTTTTTCTTCACGTTGTCATGGACCAAATCAATCCCAATCCTCTTCTCTCGATGGTACAGACACTCCAAGGCCACCTGTGGGAAGCAGCAGAAAGAACGTATTCTTCCTGTAGCTGTATGTAG 10689903 10690073 10689958 10689959 10689959 exon -18 0.797619047619048 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGAAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 286 257 1 1 1 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0181194080981626 NA 0.990354213910793 NA 0.00964578608920691 NA FALSE NA 1 7.211 . 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 1 NA TCC C,T 8.236e-06 16:10689959 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 missense_variant 7.517953 0.9924 0.97917 0.553676 0.99917524399961 0 1.10256706066914e-14 FALSE 1.21838e-05 ENSE00001008594_016 ENSE00001008594 016 16 10783761 10783930 - 38 84 48 G T 10783823 795 108 TCCTTCAGGGGGCTGGGCAGAACCAGGAGATGCCTTACCCGGATAAGGTTTTTCTCCACGTTTTCATGGACCAAATCAATCCCAATCCTCTTCTCTCGATGGTACAGACACTCCAAGGCCACCTGTGGGAAGCAGCAGAAAGAACGTATTCTTCCTGTAGCTGTATGTAG 10689903 10690073 10689965 10689966 10689966 exon -25 0.714285714285714 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGAAAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 209 581 0.998812535290472 1 0.999406267645236 NA NA 0.998827835919749 0.981880591901837 NA NA -1.53006292771263e-05 0.0181194080981626 NA 0.990354213910793 NA 0.00905205373444273 NA FALSE NA 0.823 1.076 . 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 1 NA TGT G,T 8.236e-06 16:10689966 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 missense_variant 5.209691 0.96951 0.75589 0.553676 0.996729374318958 0 1.10256706066914e-14 FALSE 8.12203e-06 ENSE00001008594_018 ENSE00001008594 018 16 10783761 10783930 - 38 84 48 A G 10783835 797 96 TCCTTCAGGGGGCTGGGCAGAACCAGGAGATGCCTTACCCGGATAAGGTTTTTCTCCACGTTGTCATGGACCAAGTCAATCCCAATCCTCTTCTCTCGATGGTACAGACACTCCAAGGCCACCTGTGGGAAGCAGCAGAAAGAACGTATTCTTCCTGTAGCTGTATGTAG 10689903 10690073 10689977 10689978 10689978 exon -37 0.571428571428571 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGACTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 195 118 1 1 1 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0181194080981626 NA 0.990354213910793 NA 0.00964578608920691 NA FALSE NA 1 0.554 . 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 rs566622602 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAT A,G 8.236e-06 16:10689978 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 synonymous_variant 0.08323 0.95948 0.40461 0.553676 0.644997465192999 0 1.10256706066914e-14 FALSE 1.21833e-05 ENSE00001008594_020 ENSE00001008594 020 16 10783761 10783930 - 38 84 48 C T 10783842 799 89 TCCTTCAGGGGGCTGGGCAGAACCAGGAGATGCCTTACCCGGATAAGGTTTTTCTCCACGTTGTCATGGACCAAATCAATCTCAATCCTCTTCTCTCGATGGTACAGACACTCCAAGGCCACCTGTGGGAAGCAGCAGAAAGAACGTATTCTTCCTGTAGCTGTATGTAG 10689903 10690073 10689984 10689985 10689985 exon 41 0.488095238095238 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGAGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 110 150 1 0.998204002833174 0.999102001416587 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0163234109313368 NA 0.990354213910793 NA 0.00874778750579402 NA FALSE NA 1 2.391 rs147193362 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 rs147193362 1 T:0.0034 T:0.0113 T:0 NA T:0 T:0 T:0.002 T:0.0064 T:0 CCC C,T 0.0007907 16:10689985 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 missense_variant 6.474393 0.98662 0.8551 0.553676 0.997537894305683 0 1.10256706066914e-14 FALSE 0.000670105 ENSE00001008594_023 ENSE00001008594 023 16 10783761 10783930 - 38 84 48 C G 10783853 802 78 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGACAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10689995 10689996 10689996 exon 30 0.357142857142857 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGACAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 18 715 1 1 1 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0181194080981626 NA 0.990354213910793 NA 0.00964578608920691 NA FALSE NA 1 4.407 NA NA NA TEKT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:10689996 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 missense_variant 5.278164 0.98781 0.96437 0.553676 0.997845068182957 0 1.10256706066914e-14 FALSE 4.06118e-06 ENSE00001008594_026 ENSE00001008594 026 16 10783761 10783930 - 38 84 48 T C 10783860 805 71 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCGTCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10690002 10690003 10690003 exon 23 0.273809523809524 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCGTCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 15 199 1 0.99826004826367 0.999130024131835 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0163794563618324 NA 0.990354213910793 NA 0.00877581022104179 NA FALSE NA 1 3.674 rs16957546 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 rs16957546 1 C:0.0050 C:0.0182 C:0.0014 NA C:0 C:0 C:0 C:0.0086 C:0 ATG T,C 0.00117 16:10690003 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 missense_variant 4.091176 0.97542 0.93283 0.553676 0.9648944921689 0 1.10256706066914e-14 FALSE 0.0009098 ENSE00001008594_030 ENSE00001008594 030 16 10783761 10783930 - 38 84 48 T C 10783884 809 47 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACGGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10690026 10690027 10690027 upstr_intron -2 -0.0208333333333333 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACGGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 359 42 0.996135740655019 1 0.99806787032751 NA NA 0.998827835919749 0.981880591901837 NA NA -0.00269209526472958 0.0181194080981626 NA 0.990354213910793 NA 0.00771365641671651 NA FALSE NA 1 7.414 . 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 1 NA CTG T,C 8.236e-06 16:10690027 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 splice_acceptor_variant 4.530801 0.99017 0.97723 0.078448 0.994015626402966 0.977306 1.10256706066914e-14 FALSE 4.06312e-06 ENSE00001008594_031 ENSE00001008594 031 16 10783761 10783930 - 38 84 48 T G 10783886 810 45 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCCCAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10690028 10690029 10690029 upstr_intron -4 -0.0625 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCCCAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 506 43 0.997263049615641 1 0.998631524807821 NA NA 0.998827835919749 0.981880591901837 NA NA -0.00156478630410761 0.0181194080981626 NA 0.990354213910793 NA 0.00827731089702749 NA FALSE NA 0.001 0.029 rs182614731 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 rs182614731 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GTG T,G 8.236e-06 16:10690029 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 splice_region_variant 0.680542 0.82215 0.12046 0.078448 0.734444747190037 0.294829 1.10256706066914e-14 FALSE 4.06369e-06 ENSE00001008594_032 ENSE00001008594 032 16 10783761 10783930 - 38 84 48 G C 10783887 811 44 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCGACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10690029 10690030 10690030 upstr_intron -5 -0.0833333333333333 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCGACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 108 284 1 1 1 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0181194080981626 NA 0.990354213910793 NA 0.00964578608920691 NA FALSE NA 0 0.015 . 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 rs556976310 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGG G,C 8.236e-06 16:10690030 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 splice_region_variant 0.353331 0.84154 0.14418 0.078448 0.684779890348346 0.36999 1.10256706066914e-14 FALSE 4.06441e-06 ENSE00001008594_033 ENSE00001008594 033 16 10783761 10783930 - 38 84 48 G A 10783895 812 36 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGTTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10690037 10690038 10690038 upstr_intron -13 -0.25 CTACATACAGCTACAGGAAGAATACGTTCTTTCTGTTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 194 501 1 1 1 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.0181194080981626 NA 0.990354213910793 NA 0.00964578608920691 NA FALSE NA 0 0.004 . 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 rs374942193 1 NA A:0 A:0.0006 AGC G,A 0.000173 16:10690038 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 5_prime_UTR_variant 0.103959 0.20599 0.06604 0.078448 0.624530462547247 0.0862879 1.10256706066914e-14 FALSE 0.000162726 ENSE00001008594_034 ENSE00001008594 034 16 10783761 10783930 - 38 84 48 G C 10783902 813 29 CTACATACAGCTACAGGAAGAATACGTTGTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10690044 10690045 10690045 upstr_intron -20 -0.395833333333333 CTACATACAGCTACAGGAAGAATACGTTGTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 55 520 0.982845628431215 1 0.991422814215607 NA NA 0.998827835919749 0.981880591901837 NA NA -0.0159822074885341 0.0181194080981626 NA 0.990354213910793 NA 0.00106860030481426 NA FALSE NA 0 -0.117 . 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 1 NA AGA G,C 2.471e-05 16:10690045 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 5_prime_UTR_variant -0.288496 0.16311 0.01234 0.078448 0.508090525768208 0.0656105 1.10256706066914e-14 FALSE 2.03568e-05 ENSE00001008594_036 ENSE00001008594 036 16 10783761 10783930 - 38 84 48 C A 10783905 815 26 CTACATACAGCTACAGGAAGAATACTTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10690047 10690048 10690048 upstr_intron -23 -0.458333333333333 CTACATACAGCTACAGGAAGAATACTTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 99 504 0.997053309508678 0.998398365552853 0.997725837530765 NA NA 0.998827835919749 0.981880591901837 NA NA -0.00177452641107101 0.0165177736510157 NA 0.990354213910793 NA 0.00737162361997235 NA FALSE NA 0 -5.975 NA NA NA TEKT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:10690048 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 5_prime_UTR_variant -0.389469 0.06079 0.00228 0.078448 0.43668721843285 0.0656105 1.10256706066914e-14 FALSE 4.07538e-06 ENSE00001008594_037 ENSE00001008594 037 16 10783761 10783930 - 38 84 48 G A 10783906 816 25 CTACATACAGCTACAGGAAGAATATGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 10690048 10690049 10690049 upstr_intron -24 -0.479166666666667 CTACATACAGCTACAGGAAGAATATGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA mutant NA NA NA NA NA 176 984 1 0.996394417702208 0.998197208851104 NA NA 0.998827835919749 0.981880591901837 NA NA 0.00117216408025123 0.014513825800371 NA 0.990354213910793 NA 0.0078429949403111 NA FALSE NA 0 -1.05 rs117004475 5_prime_UTR_variant MODIFIER TEKT5 HGNC 26554 ENST00000576638 1/5 rs117004475 1 A:0.0032 A:0 A:0.0101 NA A:0 A:0.003 A:0.0061 A:0.0011 A:0.0031 CGT G,A 0.00285 16:10690049 TEKT5 HGNC Symbol protein_coding 67444 ENSG00000153060 ENSE00001008594 5_prime_UTR_variant -0.266286 0.17607 0.01525 0.078448 0.579844818714547 0.0656105 1.10256706066914e-14 FALSE 0.00289418 ENSE00001008594_BRK ENSE00001008594 BRK 16 10783761 10783930 - 38 84 48 A,G; T,T NA NA NA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACTTGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGCCAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA 10689903 10690073 NA NA NA NA NA NA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACTTGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGCCAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA CTACATACAGCTACAGGAAGAATACGTTCTTTCTGCTGCTTCCCACAGGTGGCCTTGGAGTGTCTGTACCATCGAGAGAAGAGGATTGGGATTGATTTGGTCCATGACAACGTGGAGAAAAACCTTATCCGGGTAAGGCATCTCCTGGTTCTGCCCAGCCCCCTGAAGGA control 252 51 0 0 0 54 110 0.00914387835392871 0 0.00457193917696436 NA NA 0.998827835919749 0.981880591901837 NA NA -0.98968395756582 -0.981880591901837 NA 0.990354213910793 NA -0.985782274733829 NA TRUE NA NA NA NA NA NA TEKT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEKT5 NA NA NA ENSG00000153060 ENSE00001008594 NA NA NA NA NA NA NA 1.10256706066914e-14 FALSE NA ENSE00001008748_000 ENSE00001008748 000 2 135655870 135656039 + 41 99 30 NA NA NA NA NA AAGAAAGCCGTGAAGTAAAAGACATTATACCTTTGTTTCTTCATCAAATTCTTCCATGGACTCTATTAGTTTCCCAGGTTCCAGCTCACCTAGTGGAAAGGGGTAATCGGTTCCCAAAATGACTTTATCCTAAAAAACAAAATATATATTTCTCTGTTGTTTTGTAAAAC 134898299 134898469 NA NA NA NA NA NA GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT natural NA NA NA NA NA 1620 264 0.936769278369816 0.989646640731984 0.9632079595509 NA NA 0.936769278369816 0.989646640731984 NA NA 0 0 NA 0.9632079595509 NA 0 NA FALSE NA NA NA NA NA NA CCNT2-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCNT2-AS1 NA NA NA ENSG00000224043 ENSE00001008748 NA NA NA NA NA NA NA NA NA NA ENSE00001008748_BRK ENSE00001008748 BRK 2 135655870 135656039 + 41 99 30 A,G; T,T NA NA NA GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTTTGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGCCATAATGTCTTTTACTTCACGGCTTTCTT 134898299 134898469 NA NA NA NA NA NA GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTTTGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGCCATAATGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT control NA NA NA NA NA 397 318 0.00457409308297925 0 0.00228704654148963 NA NA 0.936769278369816 0.989646640731984 NA NA -0.932195185286836 -0.989646640731984 NA 0.9632079595509 NA -0.96092091300941 NA TRUE NA NA NA NA NA NA CCNT2-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCNT2-AS1 NA NA NA ENSG00000224043 ENSE00001008748 NA NA NA NA NA NA NA NA NA NA ENSE00001009533_000 ENSE00001009533 000 2 114713152 114713321 + 48 84 38 NA NA NA NA NA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 NA NA NA NA NA NA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA natural 44 28 0.982742953452193 0.96818586523386 0.975464409343027 11163 6855 0.969317439798853 0.950245459319942 0.959781449559398 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 0 0 0 0 0.975464409343027 0.959781449559398 0 0 0 FALSE FALSE NA NA NA NA NA ACTR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACTR3 NA NA NA ENSG00000115091 ENSE00001009533 NA NA NA NA NA NA NA 0.998335663589052 TRUE NA ENSE00001009533_001 ENSE00001009533 001 2 114713152 114713321 + 48 84 38 C T 114713167 2482 16 TGTTATTTGAATTTATTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955589 113955590 113955590 upstr_intron -33 -0.666666666666667 TGTTATTTGAATTTATTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 522 1014 0.935677232794181 0.998024173909039 0.96685070335161 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA -0.033640207004672 0.0477787145890964 0.975464409343027 0.959781449559398 NA 0.00706925379221224 NA FALSE NA 0.196 -0.068 . intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 9/10 1 NA ACT C,T 8.237e-06 2:113955590 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 non_coding_transcript_exon_variant 0.188697 0.13438 0.1035 0.295142 0.442880544267632 0.0489367 0.998335663589052 TRUE 8.59254e-06 ENSE00001009533_004 ENSE00001009533 004 2 114713152 114713321 + 48 84 38 G A 114713177 2485 26 TGTTATTTGAATTTACTATGAAGATAATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955599 113955600 113955600 upstr_intron -23 -0.458333333333333 TGTTATTTGAATTTACTATGAAGATAATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 962 663 0.87588321053414 1 0.93794160526707 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA -0.0934342292647127 0.0497545406800576 0.975464409343027 0.959781449559398 NA -0.0218398442923275 NA FALSE NA 0.001 0.037 . intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 9/10 rs377127781 1 NA A:0 A:0.0002 TGA G,A 4.118e-05 2:113955600 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 non_coding_transcript_exon_variant 0.150341 0.17469 0.01374 0.295142 0.58270838656445 0.0489367 0.998335663589052 TRUE 3.36205e-05 ENSE00001009533_005 ENSE00001009533 005 2 114713152 114713321 + 48 84 38 A G 114713178 2486 27 TGTTATTTGAATTTACTATGAAGATGGTCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955600 113955601 113955601 upstr_intron -22 -0.4375 TGTTATTTGAATTTACTATGAAGATGGTCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 1040 2463 0.795907727080347 0.800205332993497 0.798056530036922 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA -0.173409712718506 -0.150040126326445 0.975464409343027 0.959781449559398 NA -0.161724919522476 NA FALSE NA 0.025 1.346 . intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 9/10 1 NA GAT A,G 1.647e-05 2:113955601 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 non_coding_transcript_exon_variant 0.148202 0.12145 0.07649 0.295142 0.65617711898747 0.0481801 0.998335663589052 TRUE 5.45064e-05 ENSE00001009533_006 ENSE00001009533 006 2 114713152 114713321 + 48 84 38 A T 114713181 2487 30 TGTTATTTGAATTTACTATGAAGATGATCTTACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955603 113955604 113955604 upstr_intron -19 -0.375 TGTTATTTGAATTTACTATGAAGATGATCTTACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 159 129 1 1 1 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA 0.0306825602011471 0.0497545406800576 0.975464409343027 0.959781449559398 NA 0.0402185504406024 NA FALSE NA 0.01 1.201 . intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 9/10 1 NA CAT A,T 8.237e-06 2:113955604 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 non_coding_transcript_exon_variant -0.291358 0.07415 0.00061 0.295142 0.505989622384592 0.0481801 0.998335663589052 TRUE 4.1777e-06 ENSE00001009533_007 ENSE00001009533 007 2 114713152 114713321 + 48 84 38 C T 114713184 2488 33 TGTTATTTGAATTTACTATGAAGATGATCATATTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955606 113955607 113955607 upstr_intron -16 -0.3125 TGTTATTTGAATTTACTATGAAGATGATCATATTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 63 59 1 1 1 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA 0.0306825602011471 0.0497545406800576 0.975464409343027 0.959781449559398 NA 0.0402185504406024 NA FALSE NA 0 -0.562 . intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 9/10 rs370582882 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0007 T:0 ACT C,T 4.118e-05 2:113955607 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 non_coding_transcript_exon_variant 0.054021 0.10736 0.01597 0.295142 0.46040863231933 0.0481801 0.998335663589052 TRUE 4.139e-05 ENSE00001009533_008 ENSE00001009533 008 2 114713152 114713321 + 48 84 38 A G 114713186 2489 35 TGTTATTTGAATTTACTATGAAGATGATCATACTGTGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955608 113955609 113955609 upstr_intron -14 -0.270833333333333 TGTTATTTGAATTTACTATGAAGATGATCATACTGTGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 517 327 0.866232155241622 1 0.933116077620811 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA -0.103085284557231 0.0497545406800576 0.975464409343027 0.959781449559398 NA -0.0266653719385866 NA FALSE NA 0 -2.762 rs184764620 intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 9/10 rs184764620 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 G:0.0002 G:0 TAT A,G 5.766e-05 2:113955609 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 non_coding_transcript_exon_variant -0.070335 0.09194 0.02247 0.295142 0.565153915646259 0.0489367 0.998335663589052 TRUE 8.25273e-05 ENSE00001009533_009 ENSE00001009533 009 2 114713152 114713321 + 48 84 38 G A 114713188 2490 37 TGTTATTTGAATTTACTATGAAGATGATCATACTATATCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955610 113955611 113955611 upstr_intron -12 -0.229166666666667 TGTTATTTGAATTTACTATGAAGATGATCATACTATATCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 1431 978 0.937193641927657 0.971120941097766 0.954157291512712 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA -0.0321237978711958 0.0208754817778239 0.975464409343027 0.959781449559398 NA -0.00562415804668592 NA FALSE NA 0 -1.498 rs62169933 intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 9/10 rs62169933 1 A:0.0441 A:0.0915 A:0.0389 NA A:0.001 A:0.0547 A:0.0174 A:0.0985 A:0.0697 TGT G,A 0.056 2:113955611 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 non_coding_transcript_exon_variant 0.055144 0.13503 0.0263 0.295142 0.482882657254731 0.0845595 0.998335663589052 TRUE 0.0549912 ENSE00001009533_011 ENSE00001009533 011 2 114713152 114713321 + 48 84 38 A G 114713209 2492 58 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTGTTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955631 113955632 113955632 exon 10 0.119047619047619 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTGTTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 219 595 1 0.997597769545602 0.998798884772801 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA 0.0306825602011471 0.0473523102256599 0.975464409343027 0.959781449559398 NA 0.0390174352134035 NA FALSE NA 1 8.751 . missense_variant MODERATE ACTR3 HGNC 170 ENST00000536059 10/11 rs375902041&COSM1305572 1 benign(0.005) NA G:0 G:0.0001 TAT A,G 2.471e-05 2:113955632 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 missense_variant 1.63109 0.98713 0.98821 0.732398 0.920412311896698 0 0.998335663589052 TRUE 1.22202e-05 ENSE00001009533_014 ENSE00001009533 014 2 114713152 114713321 + 48 84 38 T C 114713247 2495 96 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATACGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955669 113955670 113955670 exon -37 0.571428571428571 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATACGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 1329 76 0.998692132720808 0.997913313142711 0.99830272293176 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA 0.0293746929219553 0.0476678538227691 0.975464409343027 0.959781449559398 NA 0.0385212733723622 NA FALSE NA 0.011 -1.173 . synonymous_variant LOW ACTR3 HGNC 170 ENST00000536059 10/11 1 NA ATG T,C 8.236e-06 2:113955670 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 synonymous_variant -0.415502 0.86917 0.09048 0.732398 0.386339122659963 0 0.998335663589052 TRUE 8.12783e-06 ENSE00001009533_015 ENSE00001009533 015 2 114713152 114713321 + 48 84 38 C T 114713272 2496 121 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGTTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 113955694 113955695 113955695 exon -12 0.869047619047619 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGTTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 558 2037 0.991910457420937 0.939518348037796 0.965714402729367 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA 0.022593017622084 -0.0107271112821461 0.975464409343027 0.959781449559398 NA 0.00593295316996895 NA FALSE NA 0.996 0.314 . synonymous_variant LOW ACTR3 HGNC 170 ENST00000536059 10/11 1 NA GCT C,T 8.237e-06 2:113955695 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 synonymous_variant 1.855973 0.96227 0.78889 0.732398 0.763813921385727 0 0.998335663589052 TRUE 4.06689e-06 ENSE00001009533_017 ENSE00001009533 017 2 114713152 114713321 + 48 84 38 A G 114713302 2498 151 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTGCTTTTATTTTATTTTATCA 113955574 113955744 113955724 113955725 113955725 downstr_intron 19 1.51351351351351 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTGCTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 235 1768 0.946267492556513 0.982474653519616 0.964371073038064 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA -0.0230499472423399 0.0322291941996734 0.975464409343027 0.959781449559398 NA 0.00458962347866676 NA FALSE NA 0 0.277 . intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 10/10 rs370281101 1 NA G:0.0002 G:0 TAC A,G 1.647e-05 2:113955725 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 intron_variant 1.459924 0.94429 0.10113 0.099367 0.82050595226718 0.536331 0.998335663589052 TRUE 2.09848e-05 ENSE00001009533_018 ENSE00001009533 018 2 114713152 114713321 + 48 84 38 T C 114713306 2499 155 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTCTATTTTATTTTATCA 113955574 113955744 113955728 113955729 113955729 downstr_intron 23 1.62162162162162 TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTCTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA mutant NA NA NA NA NA 243 18 0.982558328329199 1 0.991279164164599 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 NA NA 0.0132408885303457 0.0497545406800576 0.975464409343027 0.959781449559398 NA 0.0314977146052016 NA FALSE NA 0 0.626 . intron_variant MODIFIER ACTR3 HGNC 170 ENST00000536059 10/10 1 NA TTT T,C 8.242e-06 2:113955729 ACTR3 HGNC Symbol protein_coding 72636 ENSG00000115091 ENSE00001009533 intron_variant 0.534256 0.28012 0.04381 0.099367 0.733143228927168 0.066186 0.998335663589052 TRUE 8.63976e-06 ENSE00001009533_BRK ENSE00001009533 BRK 2 114713152 114713321 + 48 84 38 A,G; T,T NA NA NA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTTTCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGCCGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA 113955574 113955744 NA NA NA NA NA NA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTTTCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGCCGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA TGTTATTTGAATTTACTATGAAGATGATCATACTATGTCTTTCTTTAGCCAAAACCTATTGATGTACAAGTCATTACACACCACATGCAGCGATATGCAGTTTGGTTTGGAGGATCAATGCTGGCTTCCACGGTGAGTGTGATGAAGCTTACTTTTATTTTATTTTATCA control 114 47 0 0 0 335 698 0.122136754601396 0 0.0610683773006982 0.982742953452193 0.96818586523386 0.969317439798853 0.950245459319942 -0.982742953452193 -0.96818586523386 -0.847180685197456 -0.950245459319942 0.975464409343027 0.959781449559398 -0.975464409343027 -0.898713072258699 0.0767513370843271 TRUE TRUE NA NA NA NA NA ACTR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACTR3 NA NA NA ENSG00000115091 ENSE00001009533 NA NA NA NA NA NA NA 0.998335663589052 TRUE NA ENSE00001009722_000 ENSE00001009722 000 2 160873095 160873264 - 30 99 41 NA NA NA NA NA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA 160016583 160016753 NA NA NA NA NA NA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA natural 20 34 0.999104773766922 0.979613904252383 0.989359339009653 1353 1598 0.834393685652629 0.982225667936825 0.908309676794727 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 0 0 0 0 0.989359339009653 0.908309676794727 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLA2R1 NA NA NA ENSG00000153246 ENSE00001009722 NA NA NA NA NA NA NA 5.17711186126812e-15 FALSE NA ENSE00001009722_003 ENSE00001009722 003 2 160873095 160873264 - 30 99 41 T C 160873109 3060 156 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACGTTGCAATTTAGGTA 160016583 160016753 160016597 160016598 160016598 downstr_intron 16 1.55172413793103 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACGTTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA mutant NA NA NA NA NA 759 207 0.999402042760229 1 0.999701021380115 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 NA NA 0.1650083571076 0.0177743320631751 0.989359339009653 0.908309676794727 NA 0.0913913445853876 NA FALSE NA 0 -1.836 NA NA NA PLA2R1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:160016598 PLA2R1 HGNC Symbol protein_coding 130604 ENSG00000153246 ENSE00001009722 intron_variant 0.927496 0.16073 0.02931 0.088506 0.709990888861125 0.240682 5.17711186126812e-15 FALSE 1.70455e-05 ENSE00001009722_012 ENSE00001009722 012 2 160873095 160873264 - 30 99 41 T G 160873164 3069 101 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCCGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA 160016583 160016753 160016652 160016653 160016653 exon -40 0.606060606060606 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCCGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA mutant NA NA NA NA NA 124 1511 0.826950203190193 0.999895318674958 0.913422760932575 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 NA NA -0.00744348246243687 0.0176696507381332 0.989359339009653 0.908309676794727 NA 0.00511308413784817 NA FALSE NA 0.998 1.057 rs141553462 synonymous_variant LOW PLA2R1 HGNC 9042 ENST00000283243 9/30 rs141553462 1 NA G:0.0005 G:0 CTG T,G 8.236e-06 2:160016653 PLA2R1 HGNC Symbol protein_coding 130604 ENSG00000153246 ENSE00001009722 synonymous_variant 0.692331 0.97066 0.81311 0.732398 0.497767142367931 0 5.17711186126812e-15 FALSE NA ENSE00001009722_018 ENSE00001009722 018 2 160873095 160873264 - 30 99 41 T A 160873180 3075 85 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTTCATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA 160016583 160016753 160016668 160016669 160016669 exon 44 0.444444444444444 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTTCATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA mutant NA NA NA NA NA 67 410 1 1 1 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 NA NA 0.165606314347371 0.0177743320631751 0.989359339009653 0.908309676794727 NA 0.0916903232052729 NA FALSE NA 0.961 2.134 NA NA NA PLA2R1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:160016669 PLA2R1 HGNC Symbol protein_coding 130604 ENSG00000153246 ENSE00001009722 missense_variant -0.37465 0.65048 0.70592 0.732398 0.82803230238764 0 5.17711186126812e-15 FALSE 1.62706e-05 ENSE00001009722_019 ENSE00001009722 019 2 160873095 160873264 - 30 99 41 A G 160873181 3076 84 TACCTAAATTGCAATGTTAACAGCACTTACCTCTTGACATCCTGATTCAGCATCAGAGAGGACATGGCCTGCTTTTTTACAAATGTGAAAAAGTCTTTCTTCACAATTTTTGACTTTCCAGTGTCCCTCCTACGGAGAAAAATGTTACAAGAGAATGAATACACTCTGTG 160016583 160016753 160016669 160016670 160016670 exon 43 0.434343434343434 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTCACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA mutant NA NA NA NA NA 477 212 0.977501137067183 1 0.988750568533591 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 NA NA 0.143107451414553 0.0177743320631751 0.989359339009653 0.908309676794727 NA 0.0804408917388642 NA FALSE NA 1 5.289 . missense_variant MODERATE PLA2R1 HGNC 9042 ENST00000283243 9/30 1 deleterious(0.01) probably_damaging(0.987) NA TAA A,G 8.236e-06 2:160016670 PLA2R1 HGNC Symbol protein_coding 130604 ENSG00000153246 ENSE00001009722 missense_variant 4.830993 0.75973 0.89677 0.732398 0.997611540841758 0 5.17711186126812e-15 FALSE 4.06643e-06 ENSE00001009722_021 ENSE00001009722 021 2 160873095 160873264 - 30 99 41 C A 160873189 3078 76 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAATACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA 160016583 160016753 160016677 160016678 160016678 exon 35 0.353535353535354 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAATACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA mutant NA NA NA NA NA 70 22 0.999410606652974 1 0.999705303326487 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 NA NA 0.165016921000345 0.0177743320631751 0.989359339009653 0.908309676794727 NA 0.09139562653176 NA FALSE NA 0.66 -0.148 . missense_variant MODERATE PLA2R1 HGNC 9042 ENST00000283243 9/30 COSM3837143 1 tolerated(0.07) benign(0.094) NA TCT C,A 1.647e-05 2:160016678 PLA2R1 HGNC Symbol protein_coding 130604 ENSG00000153246 ENSE00001009722 missense_variant 3.437941 0.44068 0.07762 0.732398 0.957355334322638 0 5.17711186126812e-15 FALSE 8.13306e-06 ENSE00001009722_024 ENSE00001009722 024 2 160873095 160873264 - 30 99 41 C T 160873227 3081 38 TACCTAAATTGCAATGTTAACAGCACTTACCTCTTGACATCCTGATTCAGCATCAGAGAGGACATGGCCTGCTTTTTTACAAATGTAAAAAAGTCTTTCTTCACAATTTTTGACTTTCCAGTGTCCCTCCTATGGAGAAAAATGTTACAAGAGAATGAATACACTCTGTG 160016583 160016753 160016715 160016716 160016716 upstr_intron -4 -0.0731707317073171 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCATAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA mutant NA NA NA NA NA 40 134 1 0.998817918510299 0.99940895925515 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 NA NA 0.165606314347371 0.0165922505734746 0.989359339009653 0.908309676794727 NA 0.0910992824604226 NA FALSE NA 0 -1.35 rs184934126 splice_region_variant&intron_variant LOW PLA2R1 HGNC 9042 ENST00000283243 8/29 rs184934126&COSM3743934 1 T:0.0004 T:0.0008 T:0.0014 NA T:0 T:0 T:0 T:0.0009 T:0 ACG C,T 0.0001483 2:160016716 PLA2R1 HGNC Symbol protein_coding 130604 ENSG00000153246 ENSE00001009722 splice_region_variant 0.26477 0.14628 0.01001 0.106106 0.440833282215809 0.134954 5.17711186126812e-15 FALSE 0.000118532 ENSE00001009722_025 ENSE00001009722 025 2 160873095 160873264 - 30 99 41 G A 160873228 3082 37 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCTGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA 160016583 160016753 160016716 160016717 160016717 upstr_intron -5 -0.0975609756097561 CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCTGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA mutant NA NA NA NA NA 14 490 1 1 1 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 NA NA 0.165606314347371 0.0177743320631751 0.989359339009653 0.908309676794727 NA 0.0916903232052729 NA FALSE NA 0 0.052 . splice_region_variant&intron_variant LOW PLA2R1 HGNC 9042 ENST00000283243 8/29 rs371214329 1 NA A:0 A:0.0001 CGG G,A 1.647e-05 2:160016717 PLA2R1 HGNC Symbol protein_coding 130604 ENSG00000153246 ENSE00001009722 splice_region_variant 0.089683 0.15607 0.02267 0.106106 0.405448713907507 0.196936 5.17711186126812e-15 FALSE 2.46002e-05 ENSE00001009722_028 ENSE00001009722 028 2 160873095 160873264 - 30 99 41 T C 160873254 3085 11 CACAGAGTGTGTTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA 160016583 160016753 160016742 160016743 160016743 upstr_intron -31 -0.731707317073171 CACAGAGTGTGTTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA mutant NA NA NA NA NA 317 75 1 1 1 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 NA NA 0.165606314347371 0.0177743320631751 0.989359339009653 0.908309676794727 NA 0.0916903232052729 NA FALSE NA 0 -0.349 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:160016743 PLA2R1 HGNC Symbol protein_coding 130604 ENSG00000153246 ENSE00001009722 intron_variant 0.02602 0.16251 0.03431 0.106106 0.553986631031279 0.046875 5.17711186126812e-15 FALSE 4.13134e-06 ENSE00001009722_BRK ENSE00001009722 BRK 2 160873095 160873264 - 30 99 41 A,G; T,T NA NA NA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTTTGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGCCAAGTGCTGTTAACATTGCAATTTAGGTA 160016583 160016753 NA NA NA NA NA NA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTTTGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGCCAAGTGCTGTTAACATTGCAATTTAGGTA CACAGAGTGTATTCATTCTCTTGTAACATTTTTCTCCGTAGGAGGGACACTGGAAAGTCAAAAATTGTGAAGAAAGACTTTTTTACATTTGTAAAAAAGCAGGCCATGTCCTCTCTGATGCTGAATCAGGATGTCAAGAGGTAAGTGCTGTTAACATTGCAATTTAGGTA control 95 26 0 0 0 453 165 0.0975563916669101 0 0.048778195833455 0.999104773766922 0.979613904252383 0.834393685652629 0.982225667936825 -0.999104773766922 -0.979613904252383 -0.736837293985719 -0.982225667936825 0.989359339009653 0.908309676794727 -0.989359339009653 -0.859531480961272 0.12982785804838 TRUE TRUE NA NA NA NA NA PLA2R1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLA2R1 NA NA NA ENSG00000153246 ENSE00001009722 NA NA NA NA NA NA NA 5.17711186126812e-15 FALSE NA ENSE00001010742_000 ENSE00001010742 000 16 4908527 4908696 + 42 96 32 NA NA NA NA NA GGTCTGACACGGCATTTTCAGTAACTACTTACCGCCTCAGAGTTATCGATGAAGGAGTCGGATTCATCATAACCATACCCCATATCGATCAAGTCCTGTATTCGGTCTTTTCTACGTTTCTTTCCACCCTAAAATGTGAAAGCAATAGATTACATGCTTTTTGAATAAAC 4858525 4858695 NA NA NA NA NA NA GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTAAGTAGTTACTGAAAATGCCGTGTCAGACC GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTAAGTAGTTACTGAAAATGCCGTGTCAGACC natural NA NA NA NA NA 2290 2993 0.925844810788375 0.980416163601209 0.953130487194792 NA NA 0.925844810788375 0.980416163601209 NA NA 0 0 NA 0.953130487194792 NA 0 NA FALSE NA NA NA NA NA NA UBN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBN1 NA NA NA ENSG00000118900 ENSE00001010742 NA NA NA NA NA NA NA 0.997776757027546 TRUE NA ENSE00001010742_004 ENSE00001010742 004 16 4908527 4908696 + 42 96 32 G T 4908554 512 28 GGTCTGACACGGCATTTTCAGTAACTACTTACCGCCTCAGAGTTATCGATGAAGGAGTCGGATTCATCATAACCATACCCCATATCGATCAAGTCCTGTATTCGGTCTTTTCTACGTTTCTTTCCACCCTAAAATGTGAAAGAAATAGATTACATGCTTTTTGAATAAAC 4858525 4858695 4858552 4858553 4858553 upstr_intron -15 -0.333333333333333 GTTTATTCAAAAAGCATGTAATCTATTTCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTAAGTAGTTACTGAAAATGCCGTGTCAGACC GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTAAGTAGTTACTGAAAATGCCGTGTCAGACC mutant NA NA NA NA NA 68 14 1 1 1 NA NA 0.925844810788375 0.980416163601209 NA NA 0.074155189211625 0.0195838363987906 NA 0.953130487194792 NA 0.0468695128052078 NA FALSE NA 0.468 0.727 . intron_variant MODIFIER UBN1 HGNC 12506 ENST00000590769 3/16 1 NA TGC G,T 1.647e-05 16:4858553 UBN1 HGNC Symbol protein_coding 35695 ENSG00000118900 ENSE00001010742 intron_variant 1.473633 0.28158 0.31914 0.295142 0.820474607705712 0.307257 0.997776757027546 TRUE 8.12803e-06 ENSE00001010742_020 ENSE00001010742 020 16 4908527 4908696 + 42 96 32 A G 4908667 528 141 GGTCTGACACGGCATTTTCAGTAACTACTCACCGCCTCAGAGTTATCGATGAAGGAGTCGGATTCATCATAACCATACCCCATATCGATCAAGTCCTGTATTCGGTCTTTTCTACGTTTCTTTCCACCCTAAAATGTGAAAGCAATAGATTACATGCTTTTTGAATAAAC 4858525 4858695 4858665 4858666 4858666 downstr_intron 3 1.09677419354839 GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTGAGTAGTTACTGAAAATGCCGTGTCAGACC GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTAAGTAGTTACTGAAAATGCCGTGTCAGACC mutant 11 16 0.85 0.949631145924663 0.899815572962331 NA NA NA NA NA NA NA 0.925844810788375 0.980416163601209 NA NA NA NA NA 0.953130487194792 NA NA NA NA NA 1 1.153 rs3747614 splice_region_variant&intron_variant LOW UBN1 HGNC 12506 ENST00000590769 4/16 rs3747614 1 G:0.1312 G:0.0356 G:0.1354 NA G:0.0536 G:0.1769 G:0.2904 G:0.048 G:0.1449 TAA A,G 0.143 16:4858666 UBN1 HGNC Symbol protein_coding 35695 ENSG00000118900 ENSE00001010742 splice_region_variant 1.790321 0.91271 0.59804 0.099367 0.795562134227684 0.485804 0.997776757027546 TRUE 0.141649 ENSE00001010742_024 ENSE00001010742 024 16 4908527 4908696 + 42 96 32 C T 4908686 532 160 GGTCTGACACAGCATTTTCAGTAACTACTTACCGCCTCAGAGTTATCGATGAAGGAGTCGGATTCATCATAACCATACCCCATATCGATCAAGTCCTGTATTCGGTCTTTTCTACGTTTCTTTCCACCCTAAAATGTGAAAGCAATAGATTACATGCTTTTTGAATAAAC 4858525 4858695 4858684 4858685 4858685 downstr_intron 22 1.70967741935484 GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTAAGTAGTTACTGAAAATGCTGTGTCAGACC GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTAAGTAGTTACTGAAAATGCCGTGTCAGACC mutant NA NA NA NA NA 1224 1211 0.946896185308068 0.999011187144288 0.972953686226178 NA NA 0.925844810788375 0.980416163601209 NA NA 0.0210513745196932 0.0185950235430782 NA 0.953130487194792 NA 0.0198231990313857 NA FALSE NA 0 -2.483 . intron_variant MODIFIER UBN1 HGNC 12506 ENST00000590769 4/16 1 NA CCG C,T 8.237e-06 16:4858685 UBN1 HGNC Symbol protein_coding 35695 ENSG00000118900 ENSE00001010742 intron_variant 0.005172 0.17547 0.03553 0.099367 0.835178754891457 0.0862078 0.997776757027546 TRUE 2.8506e-05 ENSE00001010742_BRK ENSE00001010742 BRK 16 4908527 4908696 + 42 96 32 A,G; T,T NA NA NA GGTCTGACACGGCATTTTCAGTAACTACTTGGCGCCTCAGAGTTATCGATGAAGGAGTCGGATTCATCATAACCATACCCCATATCGATCAAGTCCTGTATTCGGTCTTTTCTACGTTTCTTTCCACCAAAAAATGTGAAAGCAATAGATTACATGCTTTTTGAATAAAC 4858525 4858695 NA NA NA NA NA NA GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTTTGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGCCAAGTAGTTACTGAAAATGCCGTGTCAGACC GTTTATTCAAAAAGCATGTAATCTATTGCTTTCACATTTTAGGGTGGAAAGAAACGTAGAAAAGACCGAATACAGGACTTGATCGATATGGGGTATGGTTATGATGAATCCGACTCCTTCATCGATAACTCTGAGGCGGTAAGTAGTTACTGAAAATGCCGTGTCAGACC control 55 183 0 0 0 NA NA NA NA NA NA NA 0.925844810788375 0.980416163601209 NA NA NA NA NA 0.953130487194792 NA NA NA NA NA NA NA NA NA NA UBN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBN1 NA NA NA ENSG00000118900 ENSE00001010742 NA NA NA NA NA NA NA 0.997776757027546 TRUE NA ENSE00001011040_000 ENSE00001011040 000 13 111340250 111340419 - 44 72 54 NA NA NA NA NA GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 NA NA NA NA NA NA GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG natural 35 64 0.970132232535991 0.967090423583555 0.968611328059773 717 142 0.838406245935925 0.990344635168163 0.914375440552044 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 0 0 0 0 0.968611328059773 0.914375440552044 0 0 0 FALSE FALSE NA NA NA NA NA CARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS2 NA NA NA ENSG00000134905 ENSE00003468125 NA NA NA NA NA NA NA 0.0404651180857425 FALSE NA ENSE00001011040_002 ENSE00001011040 002 13 111340250 111340419 - 44 72 54 C A 111340274 673 146 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTTTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110687926 110687927 110687927 downstr_intron 20 1.46511627906977 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTTTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant NA NA NA NA NA 79 231 1 0.995424062243507 0.997712031121753 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 NA NA 0.161593754064075 0.00507942707534348 0.968611328059773 0.914375440552044 NA 0.083336590569709 NA FALSE NA 0 -0.413 . intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 1 NA ACA C,A 8.236e-06 13:110687927 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 intron_variant -0.117727 0.08386 0.00304 0.115753 0.526121443082104 0.123465 0.0404651180857425 FALSE NA ENSE00001011040_006 ENSE00001011040 006 13 111340250 111340419 - 44 72 54 T C 111340303 677 117 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCGGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110687955 110687956 110687956 exon -10 0.875 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCGGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant NA NA NA NA NA 68 215 1 1 1 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 NA NA 0.161593754064075 0.00965536483183693 0.968611328059773 0.914375440552044 NA 0.0856245594479557 NA FALSE NA 0.1 -1.281 . intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 1 NA CTG T,C 8.236e-06 13:110687956 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 synonymous_variant 0.55363 0.17269 0.0169 0.706298 0.470178322332633 0 0.0404651180857425 FALSE 4.062e-06 ENSE00001011040_007 ENSE00001011040 007 13 111340250 111340419 - 44 72 54 T C 111340313 678 107 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCGGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110687965 110687966 110687966 exon -20 0.736111111111111 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCGGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant 39 35 0.85 0.85 0.85 85 21 0.818792950847858 0.95 0.884396475423929 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 -0.120132232535991 -0.117090423583555 -0.0196132950880674 -0.0403446351681631 0.968611328059773 0.914375440552044 -0.118611328059773 -0.0299789651281153 0.0886323629316582 FALSE FALSE 1 1.442 . intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 rs367861934&COSM1365477 1 NA C:0.0002 C:0 CTG T,C 5.765e-05 13:110687966 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 missense_variant 1.909974 0.96736 0.79867 0.706298 0.965232496742115 0 0.0404651180857425 FALSE 3.24936e-05 ENSE00001011040_012 ENSE00001011040 012 13 111340250 111340419 - 44 72 54 G A 111340342 683 78 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTTGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110687994 110687995 110687995 exon 24 0.333333333333333 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTTGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant 42 167 0.85 0.85 0.85 17 95 0.95 0.8 0.875 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 -0.120132232535991 -0.117090423583555 0.111593754064074 -0.190344635168163 0.968611328059773 0.914375440552044 -0.118611328059773 -0.0393754405520443 0.0792358875077291 FALSE FALSE 0.001 -2.961 rs2304767 intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 rs2304767 1 A:0.1480 A:0.0151 A:0.2176 NA A:0.12 A:0.325 A:0.1247 A:0.0683 A:0.3348 CGA G,A 0.249 13:110687995 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 synonymous_variant 0.310446 0.03133 0.00562 0.706298 0.568772305000462 0 0.0404651180857425 FALSE 0.248432 ENSE00001011040_016 ENSE00001011040 016 13 111340250 111340419 - 44 72 54 T C 111340361 687 59 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAGTATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110688013 110688014 110688014 exon 5 0.0694444444444444 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAGTATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant 15 16 0.85 0.85 0.85 85 142 0.95 0.985049127534765 0.967524563767383 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 -0.120132232535991 -0.117090423583555 0.111593754064074 -0.0052955076333977 0.968611328059773 0.914375440552044 -0.118611328059773 0.0531491232153384 0.171760451275112 FALSE FALSE 0.999 3.477 . intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 1 NA ATT T,C 8.236e-06 13:110688014 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 missense_variant -0.043732 0.95548 0.91993 0.706298 0.817075965184619 0 0.0404651180857425 FALSE 4.07568e-06 ENSE00001011040_017 ENSE00001011040 017 13 111340250 111340419 - 44 72 54 A G 111340370 688 50 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCCGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110688022 110688023 110688023 upstr_intron -5 -0.0740740740740741 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCCGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant NA NA NA NA NA 40 377 1 0.993703885983795 0.996851942991897 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 NA NA 0.161593754064075 0.00335925081563193 0.968611328059773 0.914375440552044 NA 0.0824765024398532 NA FALSE NA 0.659 1.42 . intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 rs371348017 1 NA G:0.0002 G:0.0001 CAG A,G 1.647e-05 13:110688023 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 splice_region_variant 0.253869 0.7014 0.59932 0.115753 0.528291018351933 0.148244 0.0404651180857425 FALSE 1.23098e-05 ENSE00001011040_018 ENSE00001011040 018 13 111340250 111340419 - 44 72 54 G A 111340371 689 49 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTTTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110688023 110688024 110688024 upstr_intron -6 -0.0925925925925926 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTTTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant NA NA NA NA NA 205 135 1 1 1 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 NA NA 0.161593754064075 0.00965536483183693 0.968611328059773 0.914375440552044 NA 0.0856245594479557 NA FALSE NA 0.59 0.316 . intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 1 NA AGA G,A 8.237e-06 13:110688024 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 splice_region_variant 0.059997 0.13861 0.00616 0.069865 0.357150661735445 0.154768 0.0404651180857425 FALSE NA ENSE00001011040_019 ENSE00001011040 019 13 111340250 111340419 - 44 72 54 T G 111340378 690 42 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTCATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110688030 110688031 110688031 upstr_intron -13 -0.222222222222222 GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTCATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant NA NA NA NA NA 182 44 0.99396850975593 1 0.996984254877965 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 NA NA 0.155562263820004 0.00965536483183693 0.968611328059773 0.914375440552044 NA 0.0826088143259206 NA FALSE NA 0 -2.812 . intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 rs575543110 1 G:0.0006 G:0 G:0 NA G:0 G:0 G:0.0031 TTA T,G 0.0004695 13:110688031 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 intron_variant -0.395958 0.10227 0.01068 0.069865 0.322517825900485 0.0873955 0.0404651180857425 FALSE 0.000438208 ENSE00001011040_021 ENSE00001011040 021 13 111340250 111340419 - 44 72 54 C T 111340388 692 32 GTTCTGTTGCGAATGCCCCAGACTCATTAACATGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110688040 110688041 110688041 upstr_intron -23 -0.407407407407407 GTTCTGTTGCGAATGCCCCAGACTCATTAACATGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant NA NA NA NA NA 17 41 1 0.95 0.975 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 NA NA 0.161593754064075 -0.0403446351681631 0.968611328059773 0.914375440552044 NA 0.0606245594479557 NA FALSE NA 0 -1.626 rs182899298 intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 rs182899298 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 T:0 T:0.0001 ACG C,T 1.648e-05 13:110688041 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 intron_variant -0.293888 0.10253 0.01059 0.069865 0.710477255088474 0.0625828 0.0404651180857425 FALSE 2.14662e-05 ENSE00001011040_023 ENSE00001011040 023 13 111340250 111340419 - 44 72 54 C T 111340409 694 11 GTTCTGTTGCAAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG 110687902 110688072 110688061 110688062 110688062 upstr_intron -44 -0.796296296296296 GTTCTGTTGCAAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG GTTCTGTTGCGAATGCCCCAGACTCATTAACGTGCACATCTAATCCTTCTGCAGATGAATATTTCCCCCGCTTCCCTCGCCAGTCTTTATGAGGAAGACTTCAAGCAGGACATGGCAGCCCTGAAGGTAAAGTGTGGGGCTGGTTGTTCCTGCCATGAGGGTGACAGGCG mutant NA NA NA NA NA 18 261 1 0.995656195475389 0.997828097737694 0.970132232535991 0.967090423583555 0.838406245935925 0.990344635168163 NA NA 0.161593754064075 0.00531156030722546 0.968611328059773 0.914375440552044 NA 0.08345265718565 NA FALSE NA 0 -0.541 . intron_variant&non_coding_transcript_variant MODIFIER CARS2 HGNC 25695 ENST00000544488 1/2 rs368929382 1 NA T:0 T:0.0001 TCG C,T 4.997e-05 13:110688062 CARS2 HGNC Symbol protein_coding 72191 ENSG00000134905 ENSE00003468125 intron_variant -0.152936 0.08529 0.00423 0.069865 0.829524882362546 0.0625828 0.0404651180857425 FALSE 5.00523e-05 ENSE00001011370_000 ENSE00001011370 000 3 32490905 32491074 + 41 99 30 NA NA NA NA NA GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT 32449412 32449582 NA NA NA NA NA NA GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT natural 417 473 0.927545513593055 0.912658791975478 0.920102152784267 910 692 0.959741395426208 0.89816572935044 0.928953562388324 0.927545513593055 0.912658791975478 0.959741395426208 0.89816572935044 0 0 0 0 0.920102152784267 0.928953562388324 0 0 0 FALSE FALSE NA NA NA NA NA CMTM7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CMTM7 NA NA NA ENSG00000153551 ENSE00001011370 NA NA NA NA NA NA NA 0.426220205435479 FALSE NA ENSE00001011370_007 ENSE00001011370 007 3 32490905 32491074 + 41 99 30 G T 32490967 398 63 GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCTGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT 32449412 32449582 32449474 32449475 32449475 exon 22 0.222222222222222 GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCTGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT mutant NA NA NA NA NA 82 22 0.80317152290606 0.8 0.80158576145303 0.927545513593055 0.912658791975478 0.959741395426208 0.89816572935044 NA NA -0.156569872520148 -0.0981657293504402 0.920102152784267 0.928953562388324 NA -0.127367800935294 NA FALSE NA 1 6.738 . upstream_gene_variant MODIFIER CMTM7 HGNC 19178 ENST00000487007 COSM1043650 1 NA CGG G,T 8.236e-06 3:32449475 CMTM7 HGNC Symbol protein_coding 91396 ENSG00000153551 ENSE00001011370 missense_variant 5.607611 0.98951 0.9668 0.706298 0.996550111060781 0 0.426220205435479 FALSE 4.06065e-06 ENSE00001011370_008 ENSE00001011370 008 3 32490905 32491074 + 41 99 30 C T 32490976 399 72 GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGTTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT 32449412 32449582 32449483 32449484 32449484 exon 31 0.313131313131313 GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGTTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT mutant NA NA NA NA NA 82 57 0.958256711626912 0.936294372620583 0.947275542123748 0.927545513593055 0.912658791975478 0.959741395426208 0.89816572935044 NA NA -0.00148468379929523 0.0381286432701424 0.920102152784267 0.928953562388324 NA 0.0183219797354236 NA FALSE NA 1 3.813 . upstream_gene_variant MODIFIER CMTM7 HGNC 19178 ENST00000487007 1 NA GCT C,T 7.413e-05 3:32449484 CMTM7 HGNC Symbol protein_coding 91396 ENSG00000153551 ENSE00001011370 missense_variant 3.152464 0.98224 0.8987 0.706298 0.996264228017742 0 0.426220205435479 FALSE 3.24847e-05 ENSE00001011370_009 ENSE00001011370 009 3 32490905 32491074 + 41 99 30 C T 32490978 400 74 GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTTCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT 32449412 32449582 32449485 32449486 32449486 exon 33 0.333333333333333 GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTTCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT mutant NA NA NA NA NA 104 34 0.963978072238052 1 0.981989036119026 0.927545513593055 0.912658791975478 0.959741395426208 0.89816572935044 NA NA 0.00423667681184414 0.10183427064956 0.920102152784267 0.928953562388324 NA 0.0530354737307019 NA FALSE NA 0.988 0.074 . upstream_gene_variant MODIFIER CMTM7 HGNC 19178 ENST00000487007 COSM3592455 1 NA TCC C,T 8.236e-06 3:32449486 CMTM7 HGNC Symbol protein_coding 91396 ENSG00000153551 ENSE00001011370 synonymous_variant 2.236406 0.95215 0.47863 0.706298 0.734220050063759 0 0.426220205435479 FALSE 8.12117e-06 ENSE00001011370_013 ENSE00001011370 013 3 32490905 32491074 + 41 99 30 A G 32491018 404 114 GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACGACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT 32449412 32449582 32449525 32449526 32449526 exon -27 0.737373737373737 GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACGACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT mutant NA NA NA NA NA 24 41 0.959312302002127 0.996122857564551 0.977717579783339 0.927545513593055 0.912658791975478 0.959741395426208 0.89816572935044 NA NA -0.00042909342408004 0.0979571282141111 0.920102152784267 0.928953562388324 NA 0.0487640173950155 NA FALSE NA 0.589 1.041 . missense_variant&NMD_transcript_variant MODERATE CMTM7 HGNC 19178 ENST00000487007 1/4 1 tolerated(0.26) benign(0.005) NA CAA A,G 8.236e-06 3:32449526 CMTM7 HGNC Symbol protein_coding 91396 ENSG00000153551 ENSE00001011370 missense_variant 0.942943 0.26212 0.09884 0.706298 0.925554998292476 0 0.426220205435479 FALSE 4.06055e-06 ENSE00001011370_BRK ENSE00001011370 BRK 3 32490905 32491074 + 41 99 30 A,G; T,T NA NA NA GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCTTGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGCCGAGGATGTTTTGGGGAGCCTTTAGGAAT 32449412 32449582 NA NA NA NA NA NA GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCTTGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGCCGAGGATGTTTTGGGGAGCCTTTAGGAAT GGACGGCCCTACCCACTTATTTGCTTTGTTTCTGCCCCCAGGAACTTCTGCACTATTTAATCGGTACCCTGCTCCTCCTCATCGCCTCCATTGTGGCAGCTTCCAAGAGTTACAACCAGAGCGGACTGGTAGCCGGAGCGGTGAGGATGTTTTGGGGAGCCTTTAGGAAT control 70 83 0 0 0 NA NA NA NA NA 0.927545513593055 0.912658791975478 0.959741395426208 0.89816572935044 -0.927545513593055 -0.912658791975478 NA NA 0.920102152784267 0.928953562388324 -0.920102152784267 NA NA NA TRUE NA NA NA NA NA CMTM7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CMTM7 NA NA NA ENSG00000153551 ENSE00001011370 NA NA NA NA NA NA NA 0.426220205435479 FALSE NA ENSE00001011505_000 ENSE00001011505 000 2 89028736 89028905 + 60 60 50 NA NA NA NA NA GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 NA NA NA NA NA NA GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT natural 165 105 0.981772802743156 0.99169679193852 0.986734797340838 5450 7993 0.851756373802336 0.940489424432472 0.896122899117404 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 0 0 0 0 0.986734797340838 0.896122899117404 0 0 0 FALSE FALSE NA NA NA NA NA RPIA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPIA NA NA NA ENSG00000153574 ENSE00001011505 NA NA NA NA NA NA NA 0.00590911291307371 FALSE NA ENSE00001011505_001 ENSE00001011505 001 2 89028736 89028905 + 60 60 50 C T 89028748 2070 13 GAGAATCCTTGTTATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729229 88729230 88729230 upstr_intron -48 -0.783333333333333 GAGAATCCTTGTTATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 1842 3366 0.999916798613992 0.962017272701004 0.980967035657498 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.148160424811657 0.0215278482685318 0.986734797340838 0.896122899117404 NA 0.0848441365400943 NA FALSE NA 0 -0.326 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 3/8 rs371097529 1 NA T:0.0003 T:0 TCA C,T 8.267e-06 2:88729230 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant 0.494857 0.21823 0.0634 0 0.563334031761902 0.138028 0.00590911291307371 FALSE 4.08727e-06 ENSE00001011505_002 ENSE00001011505 002 2 89028736 89028905 + 60 60 50 C G 89028756 2071 21 GAGAATCCTTGTCATGAACTGAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729237 88729238 88729238 upstr_intron -40 -0.65 GAGAATCCTTGTCATGAACTGAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 755 2972 0.873194097500691 0.999613018576032 0.936403558038362 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.0214377236983558 0.0591235941435595 0.986734797340838 0.896122899117404 NA 0.0402806589209577 NA FALSE NA 0 0.041 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 3/8 1 NA TCA C,G 6.614e-05 2:88729238 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant -0.108625 0.11426 0.04663 0 0.439302712332719 0.117349 0.00590911291307371 FALSE 6.9269e-05 ENSE00001011505_003 ENSE00001011505 003 2 89028736 89028905 + 60 60 50 A G 89028766 2072 31 GAGAATCCTTGTCATGAACTCAAGTAAATGGTCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729247 88729248 88729248 upstr_intron -30 -0.483333333333333 GAGAATCCTTGTCATGAACTCAAGTAAATGGTCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 1652 576 0.994964544143032 0.991512088083926 0.993238316113479 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.143208170340696 0.0510226636514531 0.986734797340838 0.896122899117404 NA 0.0971154169960747 NA FALSE NA 0.006 0.178 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 3/8 rs375171924 1 NA G:0 G:0.0001 GAT A,G 8.269e-06 2:88729248 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant -0.035112 0.17105 0.05741 0.464309 0.366719923205183 0.186117 0.00590911291307371 FALSE 4.06729e-06 ENSE00001011505_004 ENSE00001011505 004 2 89028736 89028905 + 60 60 50 C T 89028768 2073 33 GAGAATCCTTGTCATGAACTCAAGTAAATGATTGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729249 88729250 88729250 upstr_intron -28 -0.45 GAGAATCCTTGTCATGAACTCAAGTAAATGATTGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 4172 3173 0.91411694358932 0.999711625346761 0.95691428446804 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.0623605697869846 0.0592222009142882 0.986734797340838 0.896122899117404 NA 0.0607913853506364 NA FALSE NA 0 -1.596 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 3/8 1 NA TCG C,T 8.269e-06 2:88729250 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant 0.255508 0.06263 0.00039 0.464309 0.536123777524797 0.15784 0.00590911291307371 FALSE 4.06719e-06 ENSE00001011505_006 ENSE00001011505 006 2 89028736 89028905 + 60 60 50 G T 89028769 2075 34 GAGAATCCTTGTCATGAACTCAAGTAAATGATCTTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729250 88729251 88729251 upstr_intron -27 -0.433333333333333 GAGAATCCTTGTCATGAACTCAAGTAAATGATCTTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 2202 1811 0.996718905381027 0.996697921458109 0.996708413419568 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.144962531578691 0.0562084970256361 0.986734797340838 0.896122899117404 NA 0.100585514302164 NA FALSE NA 0 -1.146 NA NA NA RPIA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:88729251 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant -0.266004 0.18976 0.05511 0.464309 0.497508676177933 0.219054 0.00590911291307371 FALSE NA ENSE00001011505_007 ENSE00001011505 007 2 89028736 89028905 + 60 60 50 G A 89028775 2076 40 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTACTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729256 88729257 88729257 upstr_intron -21 -0.333333333333333 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTACTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 341 1752 0.976881952110785 0.943519398820073 0.960200675465429 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.125125578308449 0.00302997438760011 0.986734797340838 0.896122899117404 NA 0.0640777763480246 NA FALSE NA 0.856 1.984 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 3/8 1 NA TGC G,A 8.269e-06 2:88729257 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant 0.54153 0.53393 0.25436 0.464309 0.658938782886889 0.808744 0.00590911291307371 FALSE 4.06511e-06 ENSE00001011505_008 ENSE00001011505 008 2 89028736 89028905 + 60 60 50 T C 89028779 2077 44 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCCTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729260 88729261 88729261 upstr_intron -17 -0.266666666666667 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCCTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 1717 908 0.858682564503437 1 0.929341282251718 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.00692619070110112 0.0595105755675276 0.986734797340838 0.896122899117404 NA 0.0332183831343144 NA FALSE NA 0.718 3.549 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 3/8 rs550841076 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTT T,C 8.269e-06 2:88729261 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant 0.153652 0.36618 0.06389 0.464309 0.628440952705519 0.732376 0.00590911291307371 FALSE 1.62546e-05 ENSE00001011505_009 ENSE00001011505 009 2 89028736 89028905 + 60 60 50 C T 89028782 2078 47 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCTCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729263 88729264 88729264 upstr_intron -14 -0.216666666666667 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCTCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 698 327 0.996357666752206 0.996915506875163 0.996636586813685 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.144601292949871 0.0564260824426905 0.986734797340838 0.896122899117404 NA 0.100513687696281 NA FALSE NA 0 -0.527 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 3/8 rs368173743 1 NA T:0 T:0.0001 CCC C,T 8.269e-06 2:88729264 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant 0.466952 0.17668 0.00543 0.464309 0.698523803264539 0.186117 0.00590911291307371 FALSE 4.06326e-06 ENSE00001011505_010 ENSE00001011505 010 2 89028736 89028905 + 60 60 50 T C 89028784 2079 49 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCCGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729265 88729266 88729266 upstr_intron -12 -0.183333333333333 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCCGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 3965 1163 0.974847436697393 0.998130718236287 0.98648907746684 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.123091062895057 0.0576412938038143 0.986734797340838 0.896122899117404 NA 0.0903661783494357 NA FALSE NA 0 1.75 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 3/8 1 NA CTG T,C 8.269e-06 2:88729266 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant 0.303628 0.24449 0.16503 0.464309 0.564674594415928 0.269715 0.00590911291307371 FALSE 3.25042e-05 ENSE00001011505_013 ENSE00001011505 013 2 89028736 89028905 + 60 60 50 C T 89028791 2082 56 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCTGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729272 88729273 88729273 upstr_intron -5 -0.0666666666666667 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCTGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 533 2122 0.838136817020959 0.999364657801685 0.918750737411322 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA -0.0136195567813762 0.0588752333692125 0.986734797340838 0.896122899117404 NA 0.0226278382939182 NA FALSE NA 0 -0.967 rs186731447 splice_region_variant&intron_variant LOW RPIA HGNC 10297 ENST00000283646 3/8 rs186731447 1 NA CCG C,T 4.961e-05 2:88729273 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 splice_region_variant 0.825599 0.1862 0.00858 0.464309 0.796849826858846 0.250197 0.00590911291307371 FALSE 3.25024e-05 ENSE00001011505_015 ENSE00001011505 015 2 89028736 89028905 + 60 60 50 C T 89028798 2084 63 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCTCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729279 88729280 88729280 exon 3 0.05 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCTCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 1162 659 0.945901216437734 0.999759936555723 0.972830576496729 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.0941448426353988 0.0592705121232511 0.986734797340838 0.896122899117404 NA 0.0767076773793249 NA FALSE NA 0.947 0.042 . splice_region_variant&synonymous_variant LOW RPIA HGNC 10297 ENST00000283646 4/9 rs562892316 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCC C,T 8.268e-06 2:88729280 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 splice_region_variant 2.488406 0.97733 0.78766 0.75658 0.940800962672298 0 0.00590911291307371 FALSE 4.0621e-06 ENSE00001011505_016 ENSE00001011505 016 2 89028736 89028905 + 60 60 50 C T 89028799 2085 64 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCTGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729280 88729281 88729281 exon 4 0.0666666666666667 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCTGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 923 1284 0.88732387106389 0.997104654474363 0.942214262769126 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.0355674972615543 0.0566152300418906 0.986734797340838 0.896122899117404 NA 0.0460913636517225 NA FALSE NA 1 4.529 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:88729281 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 missense_variant 7.949175 0.98701 0.96538 0.75658 0.999435286251582 0 0.00590911291307371 FALSE 2.0312e-05 ENSE00001011505_017 ENSE00001011505 017 2 89028736 89028905 + 60 60 50 C A 89028799 2086 64 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCAGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729280 88729281 88729281 exon 4 0.0666666666666667 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCAGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 1783 567 0.950550966670901 0.999865648178816 0.975208307424859 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.0987945928685657 0.0593762237463433 0.986734797340838 0.896122899117404 NA 0.0790854083074545 NA FALSE NA 1 4.529 NA NA NA RPIA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPIA NA NA NA ENSG00000153574 ENSE00001011505 missense_variant 6.105343 0.98678 0.91891 0.75658 0.997655094426973 0 0.00590911291307371 FALSE 4.0624e-06 ENSE00001011505_018 ENSE00001011505 018 2 89028736 89028905 + 60 60 50 A C 89028808 2087 73 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCCTCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729289 88729290 88729290 exon 13 0.216666666666667 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCCTCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 1001 762 0.999092002052816 0.996268769097983 0.9976803855754 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.147335628250481 0.0557793446655106 0.986734797340838 0.896122899117404 NA 0.101557486457996 NA FALSE NA 1 7.356 . missense_variant MODERATE RPIA HGNC 10297 ENST00000283646 4/9 1 tolerated(0.1) possibly_damaging(0.649) NA CAT A,C 8.268e-06 2:88729290 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 missense_variant 5.42519 0.96151 0.95546 0.730579 0.987897888529783 0 0.00590911291307371 FALSE 4.06167e-06 ENSE00001011505_019 ENSE00001011505 019 2 89028736 89028905 + 60 60 50 A G 89028818 2088 83 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTGTGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729299 88729300 88729300 exon 23 0.383333333333333 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTGTGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 934 486 0.998626031104744 0.998737175432898 0.998681603268821 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.146869657302408 0.0582477510004257 0.986734797340838 0.896122899117404 NA 0.102558704151417 NA FALSE NA 0.997 7.356 . missense_variant MODERATE RPIA HGNC 10297 ENST00000283646 4/9 1 tolerated(0.14) possibly_damaging(0.656) NA TAT A,G 8.269e-06 2:88729300 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 missense_variant 4.832568 0.96112 0.95221 0.730579 0.997782455792402 0 0.00590911291307371 FALSE 4.06164e-06 ENSE00001011505_020 ENSE00001011505 020 2 89028736 89028905 + 60 60 50 T C 89028819 2089 84 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTACGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729300 88729301 88729301 exon 24 0.4 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTACGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 6832 1266 0.997074094697513 0.809239442823778 0.903156768760646 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.145317720895177 -0.131249981608694 0.986734797340838 0.896122899117404 NA 0.00703386964324154 NA FALSE NA 0.181 0.006 . synonymous_variant LOW RPIA HGNC 10297 ENST00000283646 4/9 1 NA ATG T,C 8.27e-06 2:88729301 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 synonymous_variant 0.187076 0.89792 0.54471 0.730579 0.694402396372106 0 0.00590911291307371 FALSE 8.12321e-06 ENSE00001011505_021 ENSE00001011505 021 2 89028736 89028905 + 60 60 50 A G 89028836 2090 101 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGGTCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729317 88729318 88729318 exon -20 0.683333333333333 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGGTCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 540 649 0.998697177773844 0.996955656825463 0.997826417299654 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.146940803971509 0.0564662323929909 0.986734797340838 0.896122899117404 NA 0.10170351818225 NA FALSE NA 1 7.356 . missense_variant MODERATE RPIA HGNC 10297 ENST00000283646 4/9 1 deleterious(0) probably_damaging(0.969) NA GAT A,G 1.654e-05 2:88729318 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 missense_variant 7.015724 0.96112 0.95123 0.730579 0.998676024553026 0 0.00590911291307371 FALSE 1.21855e-05 ENSE00001011505_023 ENSE00001011505 023 2 89028736 89028905 + 60 60 50 G A 89028845 2092 110 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCAACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729326 88729327 88729327 exon -11 0.833333333333333 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCAACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 1946 885 0.994703247853034 0.997021201543661 0.995862224698347 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.142946874050698 0.0565317771111884 0.986734797340838 0.896122899117404 NA 0.0997393255809434 NA FALSE NA 1 5.933 . missense_variant MODERATE RPIA HGNC 10297 ENST00000283646 4/9 rs367917981&COSM1023617 1 tolerated(0.86) benign(0.009) NA A:0 A:0.0001 CGA G,A 8.27e-06 2:88729327 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 missense_variant 3.254436 0.95196 0.87026 0.730579 0.926999456612999 0 0.00590911291307371 FALSE 4.0623e-06 ENSE00001011505_025 ENSE00001011505 025 2 89028736 89028905 + 60 60 50 G A 89028856 2094 121 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGATAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 88729337 88729338 88729338 downstr_intron 1 1.02040816326531 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGATAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 386 81 0.0103138266563973 0.150294680845014 0.0803042537507056 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA -0.841442547145938 -0.790194743587458 0.986734797340838 0.896122899117404 NA -0.815818645366698 NA TRUE NA 1 7.712 . splice_donor_variant HIGH RPIA HGNC 10297 ENST00000283646 4/8 1 NA HC GGT G,A 8.27e-06 2:88729338 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 splice_donor_variant 6.146312 0.96776 0.9618 0.423528 0.99591132845845 0.988402 0.00590911291307371 FALSE 4.06194e-06 ENSE00001011505_026 ENSE00001011505 026 2 89028736 89028905 + 60 60 50 G A 89028887 2095 152 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCATATTTCTTTCCGCTTTTT 88729217 88729387 88729368 88729369 88729369 downstr_intron 32 1.6530612244898 GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCATATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT mutant NA NA NA NA NA 823 1290 0.999949985298504 0.999407781230723 0.999678883264614 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 NA NA 0.148193611496169 0.0589183567982504 0.986734797340838 0.896122899117404 NA 0.10355598414721 NA FALSE NA 0 -0.241 . intron_variant MODIFIER RPIA HGNC 10297 ENST00000283646 4/8 rs371893786 1 NA A:0 A:0.0001 CGT G,A 6.617e-05 2:88729369 RPIA HGNC Symbol protein_coding 59291 ENSG00000153574 ENSE00001011505 intron_variant 0.4789 0.19289 0.04315 0.120566 0.674462995071463 0.13572 0.00590911291307371 FALSE 7.72917e-05 ENSE00001011505_BRK ENSE00001011505 BRK 2 89028736 89028905 + 60 60 50 A,G; T,T NA NA NA GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCTTGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGCCAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT 88729217 88729387 NA NA NA NA NA NA GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCTTGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGCCAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT GAGAATCCTTGTCATGAACTCAAGTAAATGATCGTGGTTGCTCTTCCCTGTCCTCCGCAGGCCCGCCAGCTCATCCTGCAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAGGTAAGATTGCCACTCAGAGGCAGACCACTGCGTATTTCTTTCCGCTTTTT control 632 517 0 0.0215463721148161 0.0107731860574081 497 653 0.113365600392587 0 0.0566828001962934 0.981772802743156 0.99169679193852 0.851756373802336 0.940489424432472 -0.981772802743156 -0.970150419823703 -0.738390773409749 -0.940489424432472 0.986734797340838 0.896122899117404 -0.97596161128343 -0.839440098921111 0.136521512362319 TRUE TRUE NA NA NA NA NA RPIA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPIA NA NA NA ENSG00000153574 ENSE00001011505 NA NA NA NA NA NA NA 0.00590911291307371 FALSE NA ENSE00001012081_000 ENSE00001012081 000 6 154744004 154744173 - 45 69 56 NA NA NA NA NA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA 154422869 154423039 NA NA NA NA NA NA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA natural NA NA NA NA NA 3441 4832 0.951770819588345 0.961335060017947 0.956552939803146 NA NA 0.951770819588345 0.961335060017947 NA NA 0 0 NA 0.956552939803146 NA 0 NA FALSE NA NA NA NA NA NA CNKSR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNKSR3 NA NA NA ENSG00000153721 ENSE00001012081 NA NA NA NA NA NA NA 0.211063418499667 FALSE NA ENSE00001012081_001 ENSE00001012081 001 6 154744004 154744173 - 45 69 56 G A 154744016 2513 158 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCTTTAAAACTTTTA 154422869 154423039 154422881 154422882 154422882 downstr_intron 33 1.75 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCTTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA mutant NA NA NA NA NA 1463 641 0.996218115976358 0.985926051960422 0.99107208396839 NA NA 0.951770819588345 0.961335060017947 NA NA 0.044447296388013 0.0245909919424754 NA 0.956552939803146 NA 0.0345191441652442 NA FALSE NA 0 -1.055 . intron_variant MODIFIER CNKSR3 HGNC 23034 ENST00000454664 5/6 1 NA AGG G,A 8.237e-06 6:154422882 CNKSR3 HGNC Symbol protein_coding 123155 ENSG00000153721 ENSE00001012081 intron_variant -0.00254 0.08298 0.00413 0.074636 0.680419891154809 0.0443366 0.211063418499667 FALSE NA ENSE00001012081_003 ENSE00001012081 003 6 154744004 154744173 - 45 69 56 C T 154744030 2515 144 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGACTCAATTTTCCTCCTTAAAACTTTTA 154422869 154423039 154422895 154422896 154422896 downstr_intron 19 1.43181818181818 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGACTCAATTTTCCTCCTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA mutant NA NA NA NA NA 70 554 1 0.99993127605601 0.999965638028005 NA NA 0.951770819588345 0.961335060017947 NA NA 0.0482291804116554 0.0385962160380634 NA 0.956552939803146 NA 0.0434126982248594 NA FALSE NA 0 -2.118 NA NA NA CNKSR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:154422896 CNKSR3 HGNC Symbol protein_coding 123155 ENSG00000153721 ENSE00001012081 intron_variant 0.249554 0.08968 0.00438 0.074636 0.644812987036817 0.0443366 0.211063418499667 FALSE 3.07468e-05 ENSE00001012081_007 ENSE00001012081 007 6 154744004 154744173 - 45 69 56 A G 154744115 2519 59 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCCCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA 154422869 154423039 154422980 154422981 154422981 exon 3 0.0434782608695652 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCCCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA mutant NA NA NA NA NA 2118 766 0.957854374519442 0.986301274647512 0.972077824583477 NA NA 0.951770819588345 0.961335060017947 NA NA 0.00608355493109769 0.0249662146295648 NA 0.956552939803146 NA 0.0155248847803313 NA FALSE NA 0.998 0.522 . splice_region_variant&synonymous_variant LOW CNKSR3 HGNC 23034 ENST00000454664 5/7 1 NA GAG A,G 0.0001071 6:154422981 CNKSR3 HGNC Symbol protein_coding 123155 ENSG00000153721 ENSE00001012081 splice_region_variant 1.466586 0.9712 0.71647 0.615465 0.558816920027159 0 0.211063418499667 FALSE 8.89371e-05 ENSE00001012081_008 ENSE00001012081 008 6 154744004 154744173 - 45 69 56 T C 154744121 2520 53 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTGCAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA 154422869 154423039 154422986 154422987 154422987 upstr_intron -4 -0.0535714285714286 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTGCAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA mutant NA NA NA NA NA 478 817 1 0.998253791151335 0.999126895575668 NA NA 0.951770819588345 0.961335060017947 NA NA 0.0482291804116554 0.0369187311333885 NA 0.956552939803146 NA 0.0425739557725219 NA FALSE NA 0 -0.76 . splice_region_variant&intron_variant LOW CNKSR3 HGNC 23034 ENST00000454664 4/6 1 NA GTA T,C 8.236e-06 6:154422987 CNKSR3 HGNC Symbol protein_coding 123155 ENSG00000153721 ENSE00001012081 splice_region_variant -0.344629 0.204 0.0515 0.053691 0.510682865581069 0.136508 0.211063418499667 FALSE 4.28971e-06 ENSE00001012081_010 ENSE00001012081 010 6 154744004 154744173 - 45 69 56 G C 154744125 2522 49 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTGTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA 154422869 154423039 154422990 154422991 154422991 upstr_intron -8 -0.125 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTGTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA mutant NA NA NA NA NA 321 2276 0.858220896933912 0.756715587746966 0.807468242340439 NA NA 0.951770819588345 0.961335060017947 NA NA -0.093549922654433 -0.204619472270981 NA 0.956552939803146 NA -0.149084697462707 NA FALSE NA 0.049 0.265 . splice_region_variant&intron_variant LOW CNKSR3 HGNC 23034 ENST00000454664 4/6 rs201541393 1 NA C:0 C:0.0001 AGA G,C 3.295e-05 6:154422991 CNKSR3 HGNC Symbol protein_coding 123155 ENSG00000153721 ENSE00001012081 splice_region_variant 0.217837 0.36726 0.28324 0.053691 0.658842360255756 0.18309 0.211063418499667 FALSE 4.73306e-05 ENSE00001012081_012 ENSE00001012081 012 6 154744004 154744173 - 45 69 56 C A 154744137 2524 37 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGTTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA 154422869 154423039 154423002 154423003 154423003 upstr_intron -20 -0.339285714285714 CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGTTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA mutant NA NA NA NA NA 810 180 0.99638571763677 0.999120357574263 0.997753037605517 NA NA 0.951770819588345 0.961335060017947 NA NA 0.0446148980484254 0.0377852975563167 NA 0.956552939803146 NA 0.041200097802371 NA FALSE NA 0 -1.029 NA NA NA CNKSR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:154423003 CNKSR3 HGNC Symbol protein_coding 123155 ENSG00000153721 ENSE00001012081 intron_variant 0.356 0.27155 0.02357 0.053691 0.586113503600985 0.123474 0.211063418499667 FALSE 4.43546e-06 ENSE00001012081_015 ENSE00001012081 015 6 154744004 154744173 - 45 69 56 C T 154744157 2527 17 CAGAAAGAAATAGAAGATTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA 154422869 154423039 154423022 154423023 154423023 upstr_intron -40 -0.696428571428571 CAGAAAGAAATAGAAGATTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA mutant NA NA NA NA NA 180 283 1 0.960890373855179 0.98044518692759 NA NA 0.951770819588345 0.961335060017947 NA NA 0.0482291804116554 -0.000444686162767383 NA 0.956552939803146 NA 0.023892247124444 NA FALSE NA 0 -0.764 . intron_variant MODIFIER CNKSR3 HGNC 23034 ENST00000454664 4/6 1 NA ACC C,T 8.24e-06 6:154423023 CNKSR3 HGNC Symbol protein_coding 123155 ENSG00000153721 ENSE00001012081 intron_variant 0.726799 0.20249 0.04117 0.053691 0.70751587320797 0.0882499 0.211063418499667 FALSE NA ENSE00001012081_BRK ENSE00001012081 BRK 6 154744004 154744173 - 45 69 56 A,G; T,T NA NA NA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACTTTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGCCGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA 154422869 154423039 NA NA NA NA NA NA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACTTTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGCCGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA CAGAAAGAAATAGAAGGTTTAAAAGAATTAAGGCAGGTTATTTTGTTTCTGTACAGTCTCCTGCAGACAGATCTCAGAAGATTCATGCTGGTGACGAAGTCATTCAAGTTAATCAGCAAACTGTGGTGAGTTTGTTTATTGAGGCTCAATTTTCCTCCTTAAAACTTTTA control 144 60 0 0 0 724 366 0.0460216487940565 0 0.0230108243970283 NA NA 0.951770819588345 0.961335060017947 NA NA -0.905749170794288 -0.961335060017947 NA 0.956552939803146 NA -0.933542115406117 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNKSR3 NA NA NA ENSG00000153721 ENSE00001012081 NA NA NA NA NA NA NA 0.211063418499667 FALSE NA ENSE00001012802_000 ENSE00001012802 000 19 33417058 33417227 - 38 84 48 NA NA NA NA NA TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 NA NA NA NA NA NA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA natural NA NA NA NA NA 1327 3727 0.894525317628549 0.832724748355547 0.863625032992048 NA NA 0.894525317628549 0.832724748355547 NA NA 0 0 NA 0.863625032992048 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP89 NA NA NA ENSG00000121289 ENSE00003482751 NA NA NA NA NA NA NA 4.17121506628981e-20 FALSE NA ENSE00001012802_003 ENSE00001012802 003 19 33417058 33417227 - 38 84 48 T A 33417069 1962 159 TATAAATCTTGAGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926162 32926163 32926163 downstr_intron 27 1.72972972972973 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACTCAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 553 34 0.990314989492526 0.933592495779579 0.961953742636052 NA NA 0.894525317628549 0.832724748355547 NA NA 0.0957896718639769 0.100867747424032 NA 0.863625032992048 NA 0.0983287096440044 NA FALSE NA 0.002 1.915 NA NA NA CEP89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:32926163 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 intron_variant 0.357356 0.18951 0.31356 0.099367 0.655477898750098 0.115236 4.17121506628981e-20 FALSE 4.16469e-06 ENSE00001012802_004 ENSE00001012802 004 19 33417058 33417227 - 38 84 48 G A 33417086 1963 142 TATAAATCTTGTGTCTTCTGGGACATTTACCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926179 32926180 32926180 downstr_intron 10 1.27027027027027 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGTAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 55 569 1 0.999165239479183 0.999582619739592 NA NA 0.894525317628549 0.832724748355547 NA NA 0.105474682371451 0.166440491123636 NA 0.863625032992048 NA 0.135957586747544 NA FALSE NA 0.285 1.634 . intron_variant&NMD_transcript_variant MODIFIER CEP89 HGNC 25907 ENST00000591698 10/17 1 NA TGC G,A 8.236e-06 19:32926180 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 intron_variant 0.272025 0.48376 0.1249 0.099367 0.610564113999664 0.243374 4.17121506628981e-20 FALSE 4.1175e-06 ENSE00001012802_006 ENSE00001012802 006 19 33417058 33417227 - 38 84 48 C A 33417091 1965 137 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGACTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926184 32926185 32926185 downstr_intron 5 1.13513513513514 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGTCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 108 298 1 0.99934059156234 0.99967029578117 NA NA 0.894525317628549 0.832724748355547 NA NA 0.105474682371451 0.166615843206793 NA 0.863625032992048 NA 0.136045262789122 NA FALSE NA 0.769 2.572 . splice_region_variant&intron_variant&NMD_transcript_variant LOW CEP89 HGNC 25907 ENST00000591698 10/17 rs371461034 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GCC C,A 2.471e-05 19:32926185 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 splice_region_variant 1.770792 0.95019 0.82979 0.099367 0.777420411797087 0.784178 4.17121506628981e-20 FALSE 2.04476e-05 ENSE00001012802_009 ENSE00001012802 009 19 33417058 33417227 - 38 84 48 T C 33417110 1968 118 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATCGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926203 32926204 32926204 exon -15 0.833333333333333 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCGATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 994 649 0.993631493629546 0.994851412157594 0.99424145289357 NA NA 0.894525317628549 0.832724748355547 NA NA 0.0991061760009967 0.162126663802047 NA 0.863625032992048 NA 0.130616419901522 NA FALSE NA 0.783 1.203 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CEP89 HGNC 25907 ENST00000591698 10/18 1 NA TTG T,C 8.236e-06 19:32926204 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 missense_variant 3.278444 0.23136 0.34062 0.706548 0.996240255581476 0 4.17121506628981e-20 FALSE 8.12453e-06 ENSE00001012802_010 ENSE00001012802 010 19 33417058 33417227 - 38 84 48 G C 33417111 1969 117 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTCAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926204 32926205 32926205 exon -16 0.821428571428571 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTGAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 582 750 0.996228933192704 0.998463048960043 0.997345991076374 NA NA 0.894525317628549 0.832724748355547 NA NA 0.101703615564155 0.165738300604496 NA 0.863625032992048 NA 0.133720958084325 NA FALSE NA 0.839 0.116 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CEP89 HGNC 25907 ENST00000591698 10/18 rs577830794&COSM439210 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TGA G,C 8.236e-06 19:32926205 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 synonymous_variant 0.23012 0.1523 0.11139 0.706548 0.43521523039446 0 4.17121506628981e-20 FALSE 4.0621e-06 ENSE00001012802_011 ENSE00001012802 011 19 33417058 33417227 - 38 84 48 C T 33417114 1970 114 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGTTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926207 32926208 32926208 exon -19 0.785714285714286 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAACTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 685 486 0.835924866897375 0.996301282429551 0.916113074663463 NA NA 0.894525317628549 0.832724748355547 NA NA -0.0586004507311741 0.163576534074004 NA 0.863625032992048 NA 0.0524880416714149 NA FALSE NA 0.576 -0.222 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 rs200861352 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0002 GCT C,T 0.00028 19:32926208 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 synonymous_variant 1.137185 0.2366 0.19084 0.706548 0.450490430397895 0 4.17121506628981e-20 FALSE 0.000268105 ENSE00001012802_013 ENSE00001012802 013 19 33417058 33417227 - 38 84 48 T C 33417121 1972 107 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCCTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926214 32926215 32926215 exon -26 0.702380952380952 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAGGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 1547 1403 0.990144423937333 0.988606525783449 0.989375474860391 NA NA 0.894525317628549 0.832724748355547 NA NA 0.0956191063087836 0.155881777427902 NA 0.863625032992048 NA 0.125750441868343 NA FALSE NA 1 6.009 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 1 NA CTT T,C 1.647e-05 19:32926215 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 missense_variant 5.384715 0.98679 0.97353 0.706548 0.998996516145905 0 4.17121506628981e-20 FALSE 1.62476e-05 ENSE00001012802_014 ENSE00001012802 014 19 33417058 33417227 - 38 84 48 A G 33417133 1973 95 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCGTATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926226 32926227 32926227 exon -38 0.55952380952381 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATACGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 1584 1090 0.801088600244308 0.999965077990089 0.900526839117199 NA NA 0.894525317628549 0.832724748355547 NA NA -0.0934367173842411 0.167240329634542 NA 0.863625032992048 NA 0.0369018061251504 NA FALSE NA 0.994 2.505 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 1 NA CAT A,G 8.236e-06 19:32926227 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 missense_variant 1.675315 0.96945 0.73929 0.706298 0.438049974456301 0 4.17121506628981e-20 FALSE 4.06184e-06 ENSE00001012802_017 ENSE00001012802 017 19 33417058 33417227 - 38 84 48 C T 33417146 1976 82 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGTCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926239 32926240 32926240 exon 34 0.404761904761905 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGACTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 1006 621 0.998320146149422 0.995845308994321 0.997082727571871 NA NA 0.894525317628549 0.832724748355547 NA NA 0.103794828520873 0.163120560638774 NA 0.863625032992048 NA 0.133457694579823 NA FALSE NA 1 5.847 rs141968456 downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 rs141968456 1 NA T:0 T:0.0001 GCC C,T 8.236e-06 19:32926240 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 missense_variant 6.154158 0.98925 0.97494 0.706298 0.998897667162713 0 4.17121506628981e-20 FALSE 1.21874e-05 ENSE00001012802_019 ENSE00001012802 019 19 33417058 33417227 - 38 84 48 G A 33417160 1978 68 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTAACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926253 32926254 32926254 exon 20 0.238095238095238 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTTACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 264 187 1 1 1 NA NA 0.894525317628549 0.832724748355547 NA NA 0.105474682371451 0.167275251644453 NA 0.863625032992048 NA 0.136374967007952 NA FALSE NA 1 3.572 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 1 NA TGA G,A 8.236e-06 19:32926254 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 missense_variant 6.042396 0.99143 0.96309 0.706298 0.998583291492711 0 4.17121506628981e-20 FALSE NA ENSE00001012802_020 ENSE00001012802 020 19 33417058 33417227 - 38 84 48 C T 33417177 1979 51 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCTAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926270 32926271 32926271 exon 3 0.0357142857142857 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTAGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 370 585 0.994456564349733 0.98567565923061 0.990066111790171 NA NA 0.894525317628549 0.832724748355547 NA NA 0.099931246721184 0.152950910875063 NA 0.863625032992048 NA 0.126441078798123 NA FALSE NA 1 3.127 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 1 NA CCA C,T 8.236e-06 19:32926271 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 splice_region_variant 0.906609 0.98158 0.92881 0.706548 0.85494019426673 0 4.17121506628981e-20 FALSE 4.06934e-06 ENSE00001012802_021 ENSE00001012802 021 19 33417058 33417227 - 38 84 48 A G 33417186 1980 42 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGGTAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926279 32926280 32926280 upstr_intron -7 -0.125 GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTACCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 1424 35 0.995771915627442 1 0.997885957813721 NA NA 0.894525317628549 0.832724748355547 NA NA 0.101246597998893 0.167275251644453 NA 0.863625032992048 NA 0.134260924821673 NA FALSE NA 0 -2.895 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 1 NA GAT A,G 2.471e-05 19:32926280 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 splice_region_variant -0.438585 0.16632 0.03674 0.099367 0.438491988406276 0.0513586 4.17121506628981e-20 FALSE 1.22628e-05 ENSE00001012802_022 ENSE00001012802 022 19 33417058 33417227 - 38 84 48 G A 33417202 1981 26 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAAGTTAATATATTTCTTACATCTAAAC 32926151 32926321 32926295 32926296 32926296 upstr_intron -23 -0.458333333333333 GTTTAGATGTAAGAAATATATTAACTTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 150 479 1 0.998718572362903 0.999359286181452 NA NA 0.894525317628549 0.832724748355547 NA NA 0.105474682371451 0.165993824007356 NA 0.863625032992048 NA 0.135734253189404 NA FALSE NA 0 0.138 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 1 NA AGG G,A 8.236e-06 19:32926296 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 intron_variant 0.006017 0.10461 0.0133 0.099367 0.251912126982189 0.0435152 4.17121506628981e-20 FALSE 4.18557e-06 ENSE00001012802_023 ENSE00001012802 023 19 33417058 33417227 - 38 84 48 T C 33417208 1982 20 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAACATATTTCTTACATCTAAAC 32926151 32926321 32926301 32926302 32926302 upstr_intron -29 -0.583333333333333 GTTTAGATGTAAGAAATATGTTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 347 280 1 0.982194460239046 0.991097230119523 NA NA 0.894525317628549 0.832724748355547 NA NA 0.105474682371451 0.149469711883499 NA 0.863625032992048 NA 0.127472197127475 NA FALSE NA 0 0.046 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 1 NA ATA T,C 8.236e-06 19:32926302 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 intron_variant -0.028946 0.18174 0.01987 0.099367 0.579431229077081 0.0435152 4.17121506628981e-20 FALSE 4.23664e-06 ENSE00001012802_024 ENSE00001012802 024 19 33417058 33417227 - 38 84 48 A T 33417209 1983 19 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATTTATTTCTTACATCTAAAC 32926151 32926321 32926302 32926303 32926303 upstr_intron -30 -0.604166666666667 GTTTAGATGTAAGAAATAAATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 863 591 0.998222121319868 0.99501950179669 0.996620811558279 NA NA 0.894525317628549 0.832724748355547 NA NA 0.103696803691319 0.162294753441143 NA 0.863625032992048 NA 0.132995778566231 NA FALSE NA 0 -0.748 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 1 NA TAT A,T 2.471e-05 19:32926303 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 intron_variant -0.359864 0.16833 0.13591 0.099367 0.379823922154477 0.0435152 4.17121506628981e-20 FALSE 1.27146e-05 ENSE00001012802_025 ENSE00001012802 025 19 33417058 33417227 - 38 84 48 T C 33417214 1984 14 TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTACCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAACTGAAGATAGAGAGTAAAGGAAGGTTAATATATTCCTTACATCTAAAC 32926151 32926321 32926307 32926308 32926308 upstr_intron -35 -0.708333333333333 GTTTAGATGTAAGGAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA mutant NA NA NA NA NA 49 2186 1 0.998186094769418 0.999093047384709 NA NA 0.894525317628549 0.832724748355547 NA NA 0.105474682371451 0.165461346413871 NA 0.863625032992048 NA 0.135468014392661 NA FALSE NA 0.001 0.117 . downstream_gene_variant MODIFIER CEP89 HGNC 25907 ENST00000590597 rs548699709 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTC T,C 8.236e-06 19:32926308 CEP89 HGNC Symbol protein_coding 96066 ENSG00000121289 ENSE00003482751 intron_variant 0.014986 0.16549 0.06771 0.099367 0.560738916699227 0.0435152 4.17121506628981e-20 FALSE 4.3063e-06 ENSE00001012802_BRK ENSE00001012802 BRK 19 33417058 33417227 - 38 84 48 A,G; T,T NA NA NA TATAAATCTTGTGTCTTCTGGGACATTTGCCAGCCTGGCTTGAGGGTGGCATTGAGCTCGTCCTTCTCTTTCATCATATCTTCATAAGCCAGCAACAATGGTGACAGGTACTTTATATCCAAAAGAAGATAGAGAGTAAAGGAAGGTTAATATATTTCTTACATCTAAAC 32926151 32926321 NA NA NA NA NA NA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCTTTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGCCAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA GTTTAGATGTAAGAAATATATTAACCTTCCTTTACTCTCTATCTTCAGTTGGATATAAAGTACCTGTCACCATTGTTGCTGGCTTATGAAGATATGATGAAAGAGAAGGACGAGCTCAATGCCACCCTCAAGGTAGGCTGGCAAATGTCCCAGAAGACACAAGATTTATA control NA NA NA NA NA 200 234 0 0 0 NA NA 0.894525317628549 0.832724748355547 NA NA -0.894525317628549 -0.832724748355547 NA 0.863625032992048 NA -0.863625032992048 NA TRUE NA NA NA NA NA NA CEP89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP89 NA NA NA ENSG00000121289 ENSE00003482751 NA NA NA NA NA NA NA 4.17121506628981e-20 FALSE NA ENSE00001012845_000 ENSE00001012845 000 19 33984140 33984309 - 56 48 66 NA NA NA NA NA GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 NA NA NA NA NA NA GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT natural NA NA NA NA NA 1796 1809 0.996623093744822 0.994333355145058 0.99547822444494 NA NA 0.996623093744822 0.994333355145058 NA NA 0 0 NA 0.99547822444494 NA 0 NA FALSE NA NA NA NA NA NA PEPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEPD NA NA NA ENSG00000124299 ENSE00003702654 NA NA NA NA NA NA NA 0.014507135033171 FALSE NA ENSE00001012845_001 ENSE00001012845 001 19 33984140 33984309 - 56 48 66 A G 33984155 2013 155 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCCGGGGAGGGTTTTTAT 33493233 33493403 33493248 33493249 33493249 downstr_intron 41 1.74545454545455 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCCGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 285 200 0.949344170042667 0.993049545395599 0.971196857719133 NA NA 0.996623093744822 0.994333355145058 NA NA -0.0472789237021558 -0.00128380974945874 NA 0.99547822444494 NA -0.0242813667258073 NA FALSE NA 0 -3.954 . intron_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/7 rs373153246 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0051 G:0 CAG A,G 0.0003807 19:33493249 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 intron_variant -0.234395 0.04824 0.00123 0.164513 0.524091803526889 0.0448725 0.014507135033171 FALSE 0.000303959 ENSE00001012845_003 ENSE00001012845 003 19 33984140 33984309 - 56 48 66 G A 33984163 2015 147 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGTTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493256 33493257 33493257 downstr_intron 33 1.6 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGTTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 128 375 0.906485316153589 0.999578027005557 0.953031671579573 NA NA 0.996623093744822 0.994333355145058 NA NA -0.090137777591234 0.00524467186049959 NA 0.99547822444494 NA -0.0424465528653672 NA FALSE NA 0.001 0.789 . intron_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/7 1 NA AGC G,A 8.275e-06 19:33493257 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 intron_variant 0.072321 0.12868 0.00205 0.164513 0.700709212242932 0.0448725 0.014507135033171 FALSE 4.11573e-06 ENSE00001012845_004 ENSE00001012845 004 19 33984140 33984309 - 56 48 66 C T 33984166 2016 144 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAATGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493259 33493260 33493260 downstr_intron 30 1.54545454545455 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAATGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 281 28 1 1 1 NA NA 0.996623093744822 0.994333355145058 NA NA 0.0033769062551775 0.00566664485494239 NA 0.99547822444494 NA 0.00452177555505995 NA FALSE NA 0 -0.165 . intron_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/7 rs201635988 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 ACT C,T 0.0001241 19:33493260 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 intron_variant 0.214189 0.18761 0.06226 0.164513 0.678107485914069 0.0448725 0.014507135033171 FALSE 0.000114919 ENSE00001012845_006 ENSE00001012845 006 19 33984140 33984309 - 56 48 66 C A 33984184 2018 126 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGTTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493277 33493278 33493278 downstr_intron 12 1.21818181818182 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGTTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 520 203 1 0.9902991938363 0.99514959691815 NA NA 0.996623093744822 0.994333355145058 NA NA 0.0033769062551775 -0.00403416130875778 NA 0.99547822444494 NA -0.000328627526790137 NA FALSE NA 0 -0.55 . intron_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/7 1 NA ACC C,A 8.273e-06 19:33493278 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 intron_variant 0.450442 0.17519 0.02438 0.164513 0.584936580375349 0.168359 0.014507135033171 FALSE 4.07581e-06 ENSE00001012845_007 ENSE00001012845 007 19 33984140 33984309 - 56 48 66 G A 33984202 2019 108 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTTACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493295 33493296 33493296 exon -7 0.875 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTTACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 234 195 0.860217083611566 0.973992848950292 0.917104966280929 NA NA 0.996623093744822 0.994333355145058 NA NA -0.136406010133257 -0.0203405061947654 NA 0.99547822444494 NA -0.0783732581640111 NA FALSE NA 1 0.508 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA TGA G,A 8.273e-06 19:33493296 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 synonymous_variant 1.392326 0.95661 0.7148 0.732398 0.783221216652886 0 0.014507135033171 FALSE 4.06739e-06 ENSE00001012845_008 ENSE00001012845 008 19 33984140 33984309 - 56 48 66 C T 33984210 2020 100 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTATCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493303 33493304 33493304 exon -15 0.708333333333333 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTATCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 353 545 1 0.982007812912554 0.991003906456277 NA NA 0.996623093744822 0.994333355145058 NA NA 0.0033769062551775 -0.0123255422325038 NA 0.99547822444494 NA -0.00447431798866316 NA FALSE NA 0.996 3.012 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA ACA C,T 3.309e-05 19:33493304 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 missense_variant 3.329607 0.97729 0.9129 0.732398 0.991328314137531 0 0.014507135033171 FALSE 2.43938e-05 ENSE00001012845_010 ENSE00001012845 010 19 33984140 33984309 - 56 48 66 C T 33984226 2022 84 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACATCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493319 33493320 33493320 exon 18 0.375 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACATCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 708 276 0.996786786996329 0.993643851173401 0.995215319084865 NA NA 0.996623093744822 0.994333355145058 NA NA 0.000163693251506114 -0.000689503971656125 NA 0.99547822444494 NA -0.000262905360075005 NA FALSE NA 0 -2.51 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 rs370221183 1 NA T:0 T:0.0001 ACG C,T 8.272e-06 19:33493320 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 synonymous_variant 1.889936 0.07081 0.00876 0.732398 0.454990476001175 0 0.014507135033171 FALSE 2.03252e-05 ENSE00001012845_011 ENSE00001012845 011 19 33984140 33984309 - 56 48 66 G A 33984227 2023 83 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGATGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493320 33493321 33493321 exon 17 0.354166666666667 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGATGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 2078 242 0.996948619280682 0.998731915615783 0.997840267448233 NA NA 0.996623093744822 0.994333355145058 NA NA 0.000325525535859739 0.00439856047072584 NA 0.99547822444494 NA 0.00236204300329279 NA FALSE NA 0.038 1.2 rs188930796 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 rs188930796 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 1.654e-05 19:33493321 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 missense_variant 1.821206 0.79161 0.27893 0.732398 0.933449919096613 0 0.014507135033171 FALSE 2.43926e-05 ENSE00001012845_012 ENSE00001012845 012 19 33984140 33984309 - 56 48 66 C T 33984234 2024 76 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCATCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493327 33493328 33493328 exon 10 0.208333333333333 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCATCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 11 186 1 0.979924179769503 0.989962089884751 NA NA 0.996623093744822 0.994333355145058 NA NA 0.0033769062551775 -0.014409175375555 NA 0.99547822444494 NA -0.00551613456018873 NA FALSE NA 0.062 0.342 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA ACG C,T 1.654e-05 19:33493328 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 missense_variant 2.163391 0.94895 0.21456 0.732398 0.969501952147941 0 0.014507135033171 FALSE 1.22e-05 ENSE00001012845_013 ENSE00001012845 013 19 33984140 33984309 - 56 48 66 G A 33984235 2025 75 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGTGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493328 33493329 33493329 exon 9 0.1875 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGTGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 624 188 0.993389741780915 0.991701167111989 0.992545454446452 NA NA 0.996623093744822 0.994333355145058 NA NA -0.00323335196390739 -0.00263218803306819 NA 0.99547822444494 NA -0.00293276999848779 NA FALSE NA 0 -1.417 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 rs373639982&COSM4076798 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 A:0 A:0.0001 CGC A,A 0.0001158 19:33493329 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 missense_variant 1.49622 0.8773 0.00277 0.732398 0.460427121404542 0 0.014507135033171 FALSE 7.72684e-05 ENSE00001012845_014 ENSE00001012845 014 19 33984140 33984309 - 56 48 66 G T 33984239 2026 71 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGACAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493332 33493333 33493333 exon 5 0.104166666666667 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGACAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 592 87 0.999302759862098 0.965798343784572 0.982550551823335 NA NA 0.996623093744822 0.994333355145058 NA NA 0.00267966611727566 -0.0285350113604858 NA 0.99547822444494 NA -0.012927672621605 NA FALSE NA 0.988 4.044 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA GGC G,T 1.654e-05 19:33493333 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 missense_variant 1.683503 0.96668 0.92367 0.732398 0.965814250713663 0 0.014507135033171 FALSE NA ENSE00001012845_015 ENSE00001012845 015 19 33984140 33984309 - 56 48 66 C T 33984253 2027 57 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCAACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493346 33493347 33493347 upstr_intron -10 -0.136363636363636 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCAACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 179 326 1 1 1 NA NA 0.996623093744822 0.994333355145058 NA NA 0.0033769062551775 0.00566664485494239 NA 0.99547822444494 NA 0.00452177555505995 NA FALSE NA 0 -0.307 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA TCG C,T 2.48e-05 19:33493347 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 5_prime_UTR_variant 0.545332 0.13267 0.0396 0.088506 0.627644991360598 0.357899 0.014507135033171 FALSE 1.22162e-05 ENSE00001012845_016 ENSE00001012845 016 19 33984140 33984309 - 56 48 66 G A 33984254 2028 56 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCTGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493347 33493348 33493348 upstr_intron -11 -0.151515151515152 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCTGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 247 211 0.994193766888751 1 0.997096883444375 NA NA 0.996623093744822 0.994333355145058 NA NA -0.00242932685607167 0.00566664485494239 NA 0.99547822444494 NA 0.00161865899943536 NA FALSE NA 0.001 0.398 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA CGG G,A 2.48e-05 19:33493348 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 5_prime_UTR_variant 0.344036 0.10617 0.00066 0.088506 0.673486949286358 0.357059 0.014507135033171 FALSE 1.22183e-05 ENSE00001012845_017 ENSE00001012845 017 19 33984140 33984309 - 56 48 66 C T 33984266 2029 44 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGAGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493359 33493360 33493360 upstr_intron -23 -0.333333333333333 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGAGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 41 567 0.972749689269943 1 0.986374844634971 NA NA 0.996623093744822 0.994333355145058 NA NA -0.02387340447488 0.00566664485494239 NA 0.99547822444494 NA -0.00910337980996878 NA FALSE NA 0.011 0.339 NA NA NA PEPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:33493360 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 5_prime_UTR_variant 2.088103 0.91161 0.04164 0.088506 0.767979325809309 0.488233 0.014507135033171 FALSE 8.16347e-06 ENSE00001012845_019 ENSE00001012845 019 19 33984140 33984309 - 56 48 66 G A 33984277 2031 33 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGTCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493370 33493371 33493371 upstr_intron -34 -0.5 GTGGCATGTCATCTTCATTAGGCTTAGTGGTGTCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 144 996 0.997982139157494 0.999961781347126 0.99897196025231 NA NA 0.996623093744822 0.994333355145058 NA NA 0.00135904541267151 0.00562842620206849 NA 0.99547822444494 NA 0.00349373580737 NA FALSE NA 0.003 -0.141 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 rs568321410 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGC G,A 1.653e-05 19:33493371 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 5_prime_UTR_variant -0.136752 0.15329 0.01042 0.088506 0.582771964852819 0.094915 0.014507135033171 FALSE 8.22497e-06 ENSE00001012845_020 ENSE00001012845 020 19 33984140 33984309 - 56 48 66 C A 33984278 2032 32 GTGGCATGTCATCTTCATTAGGCTTAGTGGTTCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493371 33493372 33493372 upstr_intron -35 -0.515151515151515 GTGGCATGTCATCTTCATTAGGCTTAGTGGTTCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 463 40 0.9997330422193 1 0.99986652110965 NA NA 0.996623093744822 0.994333355145058 NA NA 0.00310994847447721 0.00566664485494239 NA 0.99547822444494 NA 0.0043882966647098 NA FALSE NA 0 -1.662 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA GCA C,A 8.264e-06 19:33493372 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 5_prime_UTR_variant -0.175633 0.09968 0.00211 0.088506 0.514513093072725 0.0827529 0.014507135033171 FALSE 8.22531e-06 ENSE00001012845_021 ENSE00001012845 021 19 33984140 33984309 - 56 48 66 C T 33984280 2033 30 GTGGCATGTCATCTTCATTAGGCTTAGTGATGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493373 33493374 33493374 upstr_intron -37 -0.545454545454545 GTGGCATGTCATCTTCATTAGGCTTAGTGATGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 283 1165 0.970066090885756 0.997839775764092 0.983952933324924 NA NA 0.996623093744822 0.994333355145058 NA NA -0.0265570028590667 0.00350642061903483 NA 0.99547822444494 NA -0.0115252911200159 NA FALSE NA 0 -1.207 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 rs533890495 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACC C,T 9.09e-05 19:33493374 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 5_prime_UTR_variant 0.187644 0.15597 0.00227 0.088506 0.671035229562264 0.0812086 0.014507135033171 FALSE 6.58057e-05 ENSE00001012845_022 ENSE00001012845 022 19 33984140 33984309 - 56 48 66 C T 33984283 2034 27 GTGGCATGTCATCTTCATTAGGCTTAATGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493376 33493377 33493377 upstr_intron -40 -0.590909090909091 GTGGCATGTCATCTTCATTAGGCTTAATGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 546 352 1 0.99989181110271 0.999945905551355 NA NA 0.996623093744822 0.994333355145058 NA NA 0.0033769062551775 0.00555845595765236 NA 0.99547822444494 NA 0.00446768110641493 NA FALSE NA 0 -0.984 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA ACT C,T 1.653e-05 19:33493377 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 5_prime_UTR_variant -0.080108 0.11072 0.00146 0.088506 0.672078960384396 0.053329 0.014507135033171 FALSE 1.23601e-05 ENSE00001012845_023 ENSE00001012845 023 19 33984140 33984309 - 56 48 66 T C 33984293 2035 17 GTGGCATGTCATCTTCGTTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 33493386 33493387 33493387 upstr_intron -50 -0.742424242424242 GTGGCATGTCATCTTCGTTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT mutant NA NA NA NA NA 391 142 0.99566884472258 0.996996371223216 0.996332607972898 NA NA 0.996623093744822 0.994333355145058 NA NA -0.000954249022242393 0.00266301607815811 NA 0.99547822444494 NA 0.000854383527957858 NA FALSE NA 0 -0.986 . 5_prime_UTR_variant MODIFIER PEPD HGNC 8840 ENST00000609145 1/8 1 NA ATG T,C 2.478e-05 19:33493387 PEPD HGNC Symbol protein_coding 134844 ENSG00000124299 ENSE00003702654 5_prime_UTR_variant -0.112314 0.11444 0.01884 0.088506 0.319339464933517 0.053329 0.014507135033171 FALSE 1.24586e-05 ENSE00001012845_BRK ENSE00001012845 BRK 19 33984140 33984309 - 56 48 66 A,G; T,T NA NA NA GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTTTATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGCCAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT 33493233 33493403 NA NA NA NA NA NA GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTTTATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGCCAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT GTGGCATGTCATCTTCATTAGGCTTAGTGGTGCCTCTAAAGTGGGTTTTTCTTTCCGACCTTCTAGATTGCCAGCGTCCTGACGTCACAGAAGCCCTCTGTCCTCCTCACTTTGGTAAGTGGCTGGTGTCCAGGGGTGGGGCAGTGCTTGGCTCTGGGGAGGGTTTTTAT control 371 81 0 0 0 967 681 0.0244598885725822 0.000469868885003788 0.012464878728793 NA NA 0.996623093744822 0.994333355145058 NA NA -0.97216320517224 -0.993863486260054 NA 0.99547822444494 NA -0.983013345716147 NA TRUE NA NA NA NA NA NA PEPD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PEPD NA NA NA ENSG00000124299 ENSE00003702654 NA NA NA NA NA NA NA 0.014507135033171 FALSE NA ENSE00001014143_000 ENSE00001014143 000 5 14741904 14742073 - 32 96 42 NA NA NA NA NA AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 NA NA NA NA NA NA GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT natural 87 93 0.978961823752876 0.981575044476708 0.980268434114792 1388 1521 0.956725184846017 0.980124999773867 0.968425092309942 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 0 0 0 0 0.980268434114792 0.968425092309942 0 0 0 FALSE FALSE NA NA NA NA NA ANKH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKH NA NA NA ENSG00000154122 ENSE00003546082 NA NA NA NA NA NA NA 0.167376865709729 FALSE NA ENSE00001014143_001 ENSE00001014143 001 5 14741904 14742073 - 32 96 42 A T 14741917 253 157 AGAGAAGAGGCAGTGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741807 14741808 14741808 downstr_intron 19 1.61290322580645 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCACTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 808 257 0.998528562488367 1 0.999264281244183 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0418033776423493 0.0198750002261333 0.980268434114792 0.968425092309942 NA 0.0308391889342413 NA FALSE NA 0 -0.577 . intron_variant MODIFIER ANKH HGNC 15492 ENST00000535119 4/8 1 NA GAG A,T 8.236e-06 5:14741808 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 non_coding_transcript_exon_variant 0.235147 0.12835 0.01455 0.163922 0.690024729742009 0.0536509 0.167376865709729 FALSE 8.14233e-06 ENSE00001014143_002 ENSE00001014143 002 5 14741904 14742073 - 32 96 42 A C 14741921 254 153 AGAGAAGAGGCAGAGAGCGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741811 14741812 14741812 downstr_intron 15 1.48387096774194 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCGCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 656 724 1 0.968999759183297 0.984499879591649 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 -0.0111252405905693 0.980268434114792 0.968425092309942 NA 0.0160747872817066 NA FALSE NA 0.001 -0.122 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:14741812 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 non_coding_transcript_exon_variant 0.273298 0.20849 0.07654 0.163922 0.613365970961396 0.0536509 0.167376865709729 FALSE 0.150602 ENSE00001014143_004 ENSE00001014143 004 5 14741904 14742073 - 32 96 42 G T 14741922 256 152 AGAGAAGAGGCAGAGAGATCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741812 14741813 14741813 downstr_intron 14 1.45161290322581 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGATCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 806 1166 1 0.999321210936313 0.999660605468157 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0191962111624465 0.980268434114792 0.968425092309942 NA 0.0312355131582145 NA FALSE NA 0.001 0.214 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:14741813 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 non_coding_transcript_exon_variant 0.263348 0.2267 0.1614 0.163922 0.76120906383497 0.0536509 0.167376865709729 FALSE 1.62739e-05 ENSE00001014143_005 ENSE00001014143 005 5 14741904 14742073 - 32 96 42 G A 14741922 257 152 AGAGAAGAGGCAGAGAGAACCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741812 14741813 14741813 downstr_intron 14 1.45161290322581 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGTTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 326 178 1 1 1 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0198750002261333 0.980268434114792 0.968425092309942 NA 0.0315749076900579 NA FALSE NA 0.001 0.214 NA NA NA ANKH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKH NA NA NA ENSG00000154122 ENSE00003546082 non_coding_transcript_exon_variant 0.49239 0.22064 0.10658 0.163922 0.772549244785278 0.0536509 0.167376865709729 FALSE 2.03424e-05 ENSE00001014143_006 ENSE00001014143 006 5 14741904 14742073 - 32 96 42 G C 14741928 258 146 AGAGAAGAGGCAGAGAGAGCCTCTCTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741818 14741819 14741819 downstr_intron 8 1.25806451612903 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGAGAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 280 167 1 0.99862085939071 0.999310429695355 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0184958596168436 0.980268434114792 0.968425092309942 NA 0.0308853373854131 NA FALSE NA 0 -1.948 . splice_region_variant&intron_variant LOW ANKH HGNC 15492 ENST00000535119 4/8 1 NA TGT G,C 8.237e-06 5:14741819 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 splice_region_variant 0.311103 0.20393 0.00893 0.163922 0.668109476748508 0.184857 0.167376865709729 FALSE 4.06481e-06 ENSE00001014143_008 ENSE00001014143 008 5 14741904 14742073 - 32 96 42 G A 14741937 260 137 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCATGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741827 14741828 14741828 exon -2 0.989583333333333 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCATGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 609 83 0.997474087200414 0.998089743560465 0.997781915380439 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0407489023543962 0.0179647437865985 0.980268434114792 0.968425092309942 NA 0.0293568230704974 NA FALSE NA 1 7.84 . missense_variant&splice_region_variant MODERATE ANKH HGNC 15492 ENST00000535119 4/9 1 benign(0.025) NA CGT G,A 8.236e-06 5:14741828 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 missense_variant 3.447037 0.99084 0.98824 0.706298 0.992949362992672 0 0.167376865709729 FALSE 4.06263e-06 ENSE00001014143_009 ENSE00001014143 009 5 14741904 14742073 - 32 96 42 G A 14741941 261 133 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAATGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741831 14741832 14741832 exon -6 0.947916666666667 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCATTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 199 818 1 0.994450891644547 0.997225445822273 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0143258918706801 0.980268434114792 0.968425092309942 NA 0.0288003535123313 NA FALSE NA 0.963 1.825 . missense_variant MODERATE ANKH HGNC 15492 ENST00000535119 4/9 1 benign(0.005) NA AGT G,A 7.413e-05 5:14741832 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 missense_variant 3.77074 0.97613 0.80034 0.706298 0.998465656448673 0 0.167376865709729 FALSE 5.28043e-05 ENSE00001014143_011 ENSE00001014143 011 5 14741904 14742073 - 32 96 42 G A 14741960 263 114 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACAAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741850 14741851 14741851 exon -25 0.75 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTTGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 283 245 1 1 1 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0198750002261333 0.980268434114792 0.968425092309942 NA 0.0315749076900579 NA FALSE NA 0.997 0.838 rs150338234 synonymous_variant LOW ANKH HGNC 15492 ENST00000535119 4/9 rs150338234 1 A:0.0026 A:0.0091 A:0.0014 NA A:0 A:0 A:0 A:0.0061 A:0 CGA G,A 0.0006507 5:14741851 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 synonymous_variant 2.059795 0.96458 0.54943 0.741868 0.65274399862753 0 0.167376865709729 FALSE 0.000503606 ENSE00001014143_012 ENSE00001014143 012 5 14741904 14742073 - 32 96 42 T G 14741971 264 103 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTGCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741861 14741862 14741862 exon -36 0.635416666666667 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGCAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 726 28 0.975775273693991 1 0.987887636846996 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0190500888479735 0.0198750002261333 0.980268434114792 0.968425092309942 NA 0.0194625445370534 NA FALSE NA 1 7.96 . missense_variant MODERATE ANKH HGNC 15492 ENST00000535119 4/9 1 benign(0.057) NA TTC T,G 8.236e-06 5:14741862 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 missense_variant 3.25587 0.99296 0.99026 0.741868 0.99183498129863 0 0.167376865709729 FALSE 4.06111e-06 ENSE00001014143_014 ENSE00001014143 014 5 14741904 14742073 - 32 96 42 T C 14741984 266 90 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCCGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741874 14741875 14741875 exon 48 0.5 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCGGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 186 409 1 0.999906897583904 0.999953448791952 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0197818978100373 0.980268434114792 0.968425092309942 NA 0.0315283564820099 NA FALSE NA 0 -5.284 rs2288474 synonymous_variant LOW ANKH HGNC 15492 ENST00000535119 4/9 rs2288474&COSM149799 1 C:0.0839 C:0.0794 C:0.1441 NA C:0.121 C:0.0427 C:0.0511 C:0.0847 C:0.0448 CTG C,C 0.067 5:14741875 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 synonymous_variant 0.060522 0.08719 0.01694 0.741868 0.404992581731454 0 0.167376865709729 FALSE 0.0701242 ENSE00001014143_015 ENSE00001014143 015 5 14741904 14742073 - 32 96 42 G A 14741985 267 89 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTACCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741875 14741876 14741876 exon 47 0.489583333333333 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGTAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 438 253 0.997435181470373 1 0.998717590735186 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0407099966243551 0.0198750002261333 0.980268434114792 0.968425092309942 NA 0.0302924984252442 NA FALSE NA 0.991 4.812 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:14741876 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 missense_variant 1.782302 0.45539 0.85815 0.741868 0.98668063136041 0 0.167376865709729 FALSE 4.06118e-06 ENSE00001014143_016 ENSE00001014143 016 5 14741904 14742073 - 32 96 42 G T 14741985 268 89 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTTCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741875 14741876 14741876 exon 47 0.489583333333333 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGAAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 90 1311 1 0.994960678427621 0.997480339213811 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0148356786537543 0.980268434114792 0.968425092309942 NA 0.0290552469038685 NA FALSE NA 0.991 4.812 NA NA NA ANKH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKH NA NA NA ENSG00000154122 ENSE00003546082 missense_variant 0.34438 0.43595 0.75596 0.741868 0.703615915903347 0 0.167376865709729 FALSE NA ENSE00001014143_019 ENSE00001014143 019 5 14741904 14742073 - 32 96 42 T C 14741989 271 85 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGCGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741879 14741880 14741880 exon 43 0.447916666666667 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCGCGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 97 13 1 1 1 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0198750002261333 0.980268434114792 0.968425092309942 NA 0.0315749076900579 NA FALSE NA 1 4.005 . missense_variant MODERATE ANKH HGNC 15492 ENST00000535119 4/9 rs368318537 1 benign(0.014) NA C:0 C:0.0001 GTG T,C 8.236e-06 5:14741880 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 missense_variant 1.830268 0.98803 0.96381 0.741868 0.986383009085063 0 0.167376865709729 FALSE 4.06124e-06 ENSE00001014143_020 ENSE00001014143 020 5 14741904 14742073 - 32 96 42 G A 14741990 272 84 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTAACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741880 14741881 14741881 exon 42 0.4375 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTTACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 28 638 1 0.996903248549789 0.998451624274895 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0167782487759227 0.980268434114792 0.968425092309942 NA 0.0300265319649526 NA FALSE NA 0.998 0.356 . synonymous_variant LOW ANKH HGNC 15492 ENST00000535119 4/9 1 NA TGA G,A 1.647e-05 5:14741881 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 synonymous_variant 0.976597 0.97483 0.88188 0.741868 0.595458765320167 0 0.167376865709729 FALSE 1.62452e-05 ENSE00001014143_021 ENSE00001014143 021 5 14741904 14742073 - 32 96 42 T C 14741998 273 76 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTCGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741888 14741889 14741889 exon 34 0.354166666666667 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCGACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 379 168 1 0.999057447618784 0.999528723809392 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432748151539826 0.0189324478449174 0.980268434114792 0.968425092309942 NA 0.03110363149945 NA FALSE NA 1 4.619 . missense_variant MODERATE ANKH HGNC 15492 ENST00000535119 4/9 1 benign(0) NA TTG T,C 8.236e-06 5:14741889 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 missense_variant 1.375688 0.95061 0.94255 0.741868 0.993778364177004 0 0.167376865709729 FALSE 4.06114e-06 ENSE00001014143_022 ENSE00001014143 022 5 14741904 14742073 - 32 96 42 C T 14742002 274 72 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTTGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741892 14741893 14741893 exon 30 0.3125 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACAAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 117 570 0.978558966001937 1 0.989279483000969 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0218337811559199 0.0198750002261333 0.980268434114792 0.968425092309942 NA 0.0208543906910266 NA FALSE NA 0.001 -1.616 NA NA NA ANKH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:14741893 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 synonymous_variant 2.322805 0.13119 0.03397 0.741868 0.650113772017067 0 0.167376865709729 FALSE 5.6862e-05 ENSE00001014143_025 ENSE00001014143 025 5 14741904 14742073 - 32 96 42 C A 14742006 277 68 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGATCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741896 14741897 14741897 exon 26 0.270833333333333 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGATCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 679 1218 0.914101709603776 1 0.957050854801888 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA -0.0426234752422415 0.0198750002261333 0.980268434114792 0.968425092309942 NA -0.0113742375080541 NA FALSE NA 0.975 0.386 . missense_variant MODERATE ANKH HGNC 15492 ENST00000535119 4/9 rs201629856 1 benign(0.038) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GCT C,A 8.236e-06 5:14741897 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 missense_variant 3.076434 0.96999 0.8159 0.741868 0.990981397492645 0 0.167376865709729 FALSE 4.06144e-06 ENSE00001014143_026 ENSE00001014143 026 5 14741904 14742073 - 32 96 42 T C 14742031 278 43 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATCCTGGGGAAAGAAAACCACAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741921 14741922 14741922 exon 1 0.0104166666666667 GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGGATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 2278 85 0.999981933078731 0.998134801689135 0.999058367383933 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA 0.0432567482327137 0.0180098019152679 0.980268434114792 0.968425092309942 NA 0.0306332750739908 NA FALSE NA 1 7.96 . missense_variant&splice_region_variant MODERATE ANKH HGNC 15492 ENST00000535119 4/9 1 benign(0.062) NA TTC T,C 8.236e-06 5:14741922 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 missense_variant 2.726993 0.99273 0.98835 0.741868 0.994255018929928 0 0.167376865709729 FALSE 8.12414e-06 ENSE00001014143_027 ENSE00001014143 027 5 14741904 14742073 - 32 96 42 C T 14742049 279 25 AGAGAAGAGGCAGAGAGAGCCTCTGTCCTTACCGTGAGTGACAGAGCCATGCAGACGAAGGTGAACTTCTTGATGTGGGCTGCCGTGACTGTGTTGCTCGTGCTCACCAGTTTGTTGCTGGGGTTATTCTGGGGAAAGAAAACCATAGTCATGAATGGGCCCGGCTTATC 14741794 14741964 14741939 14741940 14741940 upstr_intron -18 -0.404761904761905 GATAAGCCGGGCCCATTCATGACTATGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT mutant NA NA NA NA NA 286 415 0.893018495723139 1 0.94650924786157 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 NA NA -0.0637066891228785 0.0198750002261333 0.980268434114792 0.968425092309942 NA -0.0219158444483726 NA FALSE NA 0 0.053 . intron_variant MODIFIER ANKH HGNC 15492 ENST00000535119 3/8 1 NA ACA C,T 8.237e-06 5:14741940 ANKH HGNC Symbol protein_coding 166985 ENSG00000154122 ENSE00003546082 intron_variant 0.138686 0.28181 0.01019 0.119485 0.575990297272026 0.165119 0.167376865709729 FALSE 1.21961e-05 ENSE00001014143_BRK ENSE00001014143 BRK 5 14741904 14742073 - 32 96 42 A,G; T,T NA NA NA GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCTTAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGCCAAGGACAGAGGCTCTCTCTGCCTCTTCTCT 14741794 14741964 NA NA NA NA NA NA GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCTTAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGCCAAGGACAGAGGCTCTCTCTGCCTCTTCTCT GATAAGCCGGGCCCATTCATGACTGTGGTTTTCTTTCCCCAGAATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACGGCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACGGTAAGGACAGAGGCTCTCTCTGCCTCTTCTCT control 92 59 0 0 0 NA NA NA NA NA 0.978961823752876 0.981575044476708 0.956725184846017 0.980124999773867 -0.978961823752876 -0.981575044476708 NA NA 0.980268434114792 0.968425092309942 -0.980268434114792 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKH NA NA NA ENSG00000154122 ENSE00003546082 NA NA NA NA NA NA NA 0.167376865709729 FALSE NA ENSE00001017721_000 ENSE00001017721 000 3 14952312 14952481 + 56 69 45 NA NA NA NA NA AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 NA NA NA NA NA NA GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT natural 95 117 0.972097292777558 0.99874406602491 0.985420679401234 1149 2665 0.970777934465025 0.868054062793658 0.919415998629342 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 0 0 0 0 0.985420679401234 0.919415998629342 0 0 0 FALSE FALSE NA NA NA NA NA FGD5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD5 NA NA NA ENSG00000154783 ENSE00003503747 NA NA NA NA NA NA NA 0.994386979064628 TRUE NA ENSE00001017721_001 ENSE00001017721 001 3 14952312 14952481 + 56 69 45 G A 14952325 249 14 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCTCTGAATCCCAGAC 14910804 14910974 14910817 14910818 14910818 upstr_intron -43 -0.75 GTCTGGGATTCAGAGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 1059 861 1 0.932047013788099 0.966023506894049 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.0639929509944408 0.985420679401234 0.919415998629342 NA 0.0466075082647078 NA FALSE NA 0.001 0.302 . intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 7/16 rs547238267 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGG G,A 0.0002401 3:14910818 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant 0.178136 0.13709 0.02031 0.062308 0.800930813187275 0.0476928 0.994386979064628 TRUE 0.000185637 ENSE00001017721_002 ENSE00001017721 002 3 14952312 14952481 + 56 69 45 G A 14952338 250 27 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTTAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910830 14910831 14910831 upstr_intron -30 -0.517857142857143 GTCTGGGATTCAGGGGGCATCAGCCTAACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 30 634 1 0.99688374080148 0.99844187040074 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.128829678007821 0.985420679401234 0.919415998629342 NA 0.0790258717713981 NA FALSE NA 0.025 0.749 . intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 7/16 1 NA TGA G,A 8.277e-06 3:14910831 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant 0.011247 0.13808 0.02411 0.062308 0.72787154986042 0.0455939 0.994386979064628 TRUE 4.22451e-06 ENSE00001017721_003 ENSE00001017721 003 3 14952312 14952481 + 56 69 45 C T 14952341 251 30 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCAGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910833 14910834 14910834 upstr_intron -27 -0.464285714285714 GTCTGGGATTCAGGGGGCATCAGCCTGACTGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 504 356 0.997940593698687 1 0.998970296849343 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0271626592336619 0.131945937206342 0.985420679401234 0.919415998629342 NA 0.0795542982200018 NA FALSE NA 0 -1.653 rs117236029 intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 7/16 rs117236029 1 T:0.0663 T:0 T:0.0994 NA T:0.1895 T:0.0149 T:0.0583 T:0.0043 T:0.0131 CCG C,T 0.045 3:14910834 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant -0.743933 0.1062 0.00469 0.062308 0.636756941553392 0.0455939 0.994386979064628 TRUE 0.0499035 ENSE00001017721_004 ENSE00001017721 004 3 14952312 14952481 + 56 69 45 G A 14952342 252 31 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGTGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910834 14910835 14910835 upstr_intron -26 -0.446428571428571 GTCTGGGATTCAGGGGGCATCAGCCTGACCACCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 15 478 1 0.99586879718144 0.99793439859072 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.127814734387782 0.985420679401234 0.919415998629342 NA 0.0785183999613784 NA FALSE NA 0 -0.892 . intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 7/16 1 NA CGC G,A 4.967e-05 3:14910835 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant -0.167557 0.10146 0.0042 0.062308 0.487486546861205 0.0455939 0.994386979064628 TRUE 1.67574e-05 ENSE00001017721_005 ENSE00001017721 005 3 14952312 14952481 + 56 69 45 C T 14952343 253 32 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGACGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910835 14910836 14910836 upstr_intron -25 -0.428571428571429 GTCTGGGATTCAGGGGGCATCAGCCTGACCGTCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 738 580 0.966557434296335 1 0.983278717148168 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA -0.00422050016869013 0.131945937206342 0.985420679401234 0.919415998629342 NA 0.0638627185188258 NA FALSE NA 0 -0.004 . intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 7/16 rs368520594 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0013 T:0 GCC C,T 7.45e-05 3:14910836 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant 0.168729 0.17578 0.01102 0.062308 0.457114968427314 0.0455939 0.994386979064628 TRUE 5.00025e-05 ENSE00001017721_007 ENSE00001017721 007 3 14952312 14952481 + 56 69 45 A T 14952364 255 53 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGAGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910856 14910857 14910857 upstr_intron -4 -0.0535714285714286 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCTCAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 879 218 0.997725824810895 1 0.998862912405447 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0269478903458695 0.131945937206342 0.985420679401234 0.919415998629342 NA 0.0794469137761056 NA FALSE NA 0 -0.665 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW FGD5 HGNC 19117 ENST00000468662 7/16 1 NA CAC A,T 1.656e-05 3:14910857 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 splice_region_variant 1.256678 0.14307 0.03199 0.099367 0.763165527690137 0.179991 0.994386979064628 TRUE NA ENSE00001017721_009 ENSE00001017721 009 3 14952312 14952481 + 56 69 45 G A 14952391 257 80 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATTAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910883 14910884 14910884 exon 24 0.347826086956522 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTAATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 298 1344 1 0.998112541497703 0.999056270748852 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.130058478704045 0.985420679401234 0.919415998629342 NA 0.0796402721195098 NA FALSE NA 1 2.012 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA TGA G,A 8.278e-06 3:14910884 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 synonymous_variant 1.166215 0.95773 0.77323 0.706298 0.717408025579096 0 0.994386979064628 TRUE 8.1588e-06 ENSE00001017721_010 ENSE00001017721 010 3 14952312 14952481 + 56 69 45 A C 14952392 258 81 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCAGCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910884 14910885 14910885 exon 25 0.36231884057971 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGCTGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 223 241 1 1 1 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.131945937206342 0.985420679401234 0.919415998629342 NA 0.0805840013706583 NA FALSE NA 1 4.011 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA GAT A,C 8.278e-06 3:14910885 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 missense_variant 3.692985 0.96696 0.84589 0.706298 0.911001346504208 0 0.994386979064628 TRUE 4.07757e-06 ENSE00001017721_012 ENSE00001017721 012 3 14952312 14952481 + 56 69 45 A G 14952410 260 99 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTCTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910902 14910903 14910903 exon -27 0.623188405797101 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAGACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 166 837 1 0.999811002240518 0.999905501120259 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.131756939446859 0.985420679401234 0.919415998629342 NA 0.0804895024909171 NA FALSE NA 1 3.12 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA AAA A,G 8.278e-06 3:14910903 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 missense_variant 1.101472 0.21718 0.54489 0.706298 0.986496650219547 0 0.994386979064628 TRUE 4.08237e-06 ENSE00001017721_013 ENSE00001017721 013 3 14952312 14952481 + 56 69 45 C T 14952412 261 101 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTATTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910904 14910905 14910905 exon -25 0.652173913043478 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAATAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 1152 494 0.921627713441153 0.998395878256962 0.960011795849058 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA -0.0491502210238718 0.130341815463304 0.985420679401234 0.919415998629342 NA 0.040595797219716 NA FALSE NA 1 2.289 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA ACA C,T 4.139e-05 3:14910905 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 synonymous_variant 1.809496 0.96043 0.82023 0.706298 0.789854026347792 0 0.994386979064628 TRUE 1.63554e-05 ENSE00001017721_014 ENSE00001017721 014 3 14952312 14952481 + 56 69 45 C T 14952416 262 105 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCATCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910908 14910909 14910909 exon -21 0.710144927536232 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGATGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 313 423 1 0.99355847584109 0.996779237920545 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.125504413047432 0.985420679401234 0.919415998629342 NA 0.0773632392912033 NA FALSE NA 0.997 3.983 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA ACG C,T 1.656e-05 3:14910909 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 missense_variant 8.495184 0.98612 0.93638 0.706298 0.998901013926311 0 0.994386979064628 TRUE 2.04806e-05 ENSE00001017721_015 ENSE00001017721 015 3 14952312 14952481 + 56 69 45 G A 14952417 263 106 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCTGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910909 14910910 14910910 exon -20 0.72463768115942 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACAGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 617 1052 0.978347109723012 0.999699211946914 0.989023160834963 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.00756917525798717 0.131645149153255 0.985420679401234 0.919415998629342 NA 0.0696071622056212 NA FALSE NA 0.984 2.45 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA CGG G,A 2.484e-05 3:14910910 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 missense_variant 4.30663 0.95117 0.40111 0.706298 0.553424410577184 0 0.994386979064628 TRUE 2.45823e-05 ENSE00001017721_016 ENSE00001017721 016 3 14952312 14952481 + 56 69 45 C T 14952422 264 111 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCAGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910914 14910915 14910915 exon -15 0.797101449275362 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCTGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 47 303 0.979486733534224 0.988699222763671 0.984092978148948 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.00870879906919875 0.120645159970013 0.985420679401234 0.919415998629342 NA 0.0646769795196059 NA FALSE NA 1 5.708 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA CCG C,T 8.279e-06 3:14910915 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 missense_variant 8.21624 0.97758 0.9462 0.706298 0.999114186888531 0 0.994386979064628 TRUE 8.21497e-06 ENSE00001017721_017 ENSE00001017721 017 3 14952312 14952481 + 56 69 45 G A 14952423 265 112 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCTGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910915 14910916 14910916 exon -14 0.811594202898551 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCAGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 22 689 1 0.999770392420942 0.999885196210471 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.131716329627284 0.985420679401234 0.919415998629342 NA 0.0804691975811293 NA FALSE NA 1 7.189 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA CGG G,A 7.451e-05 3:14910916 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 missense_variant 7.853828 0.98664 0.96953 0.706298 0.999579775069845 0 0.994386979064628 TRUE 6.16604e-05 ENSE00001017721_018 ENSE00001017721 018 3 14952312 14952481 + 56 69 45 G A 14952424 266 113 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGTCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910916 14910917 14910917 exon -13 0.826086956521739 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGACACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 269 618 1 0.998130916922898 0.999065458461449 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.13007685412924 0.985420679401234 0.919415998629342 NA 0.0796494598321073 NA FALSE NA 0.993 -0.161 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/17 1 NA GGC G,A 8.279e-06 3:14910917 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 synonymous_variant 1.667975 0.94889 0.59326 0.706298 0.668116793175202 0 0.994386979064628 TRUE 2.05631e-05 ENSE00001017721_020 ENSE00001017721 020 3 14952312 14952481 + 56 69 45 T G 14952438 268 127 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTCCCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910930 14910931 14910931 downstr_intron 2 1.04545454545455 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGGAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 685 682 0.562086932999631 0.428617569036707 0.495352251018169 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA -0.408691001465394 -0.439436493756952 0.985420679401234 0.919415998629342 NA -0.424063747611173 NA FALSE NA 1 5.866 . splice_donor_variant&non_coding_transcript_variant HIGH FGD5 HGNC 19117 ENST00000468662 8/16 1 NA GTA T,G 8.28e-06 3:14910931 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 splice_donor_variant 5.131938 0.98449 0.96095 0.156188 0.992451739532463 0.875676 0.994386979064628 TRUE 4.17195e-06 ENSE00001017721_022 ENSE00001017721 022 3 14952312 14952481 + 56 69 45 C T 14952446 270 135 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCAGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910938 14910939 14910939 downstr_intron 10 1.22727272727273 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCTGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 48 187 1 0.994891319912692 0.997445659956346 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.126837257119033 0.985420679401234 0.919415998629342 NA 0.0780296613270041 NA FALSE NA 0 -0.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:14910939 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant -0.55665 0.06014 0.00056 0.099367 0.644712162342199 0.0731078 0.994386979064628 TRUE 8.50022e-05 ENSE00001017721_023 ENSE00001017721 023 3 14952312 14952481 + 56 69 45 C G 14952446 271 135 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCCGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910938 14910939 14910939 downstr_intron 10 1.22727272727273 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCGGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 49 1073 1 0.997002282466494 0.998501141233247 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.128948219672836 0.985420679401234 0.919415998629342 NA 0.0790851426039055 NA FALSE NA 0 -0.61 NA NA NA FGD5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD5 NA NA NA ENSG00000154783 ENSE00003503747 intron_variant -0.688133 0.17925 0.02089 0.099367 0.385838412812437 0.0731078 0.994386979064628 TRUE 8.50022e-06 ENSE00001017721_024 ENSE00001017721 024 3 14952312 14952481 + 56 69 45 G A 14952447 272 136 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACTGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910939 14910940 14910940 downstr_intron 11 1.25 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCAGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 1454 395 0.999192523291882 1 0.999596261645941 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0284145888268573 0.131945937206342 0.985420679401234 0.919415998629342 NA 0.0801802630165995 NA FALSE NA 0 -0.273 rs113256802 intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/16 rs113256802 1 A:0.0020 A:0.0076 A:0 NA A:0 A:0 A:0 A:0.0052 A:0 CGG G,A 0.0006955 3:14910940 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant 0.060695 0.31911 0.04794 0.099367 0.574019763334999 0.0731078 0.994386979064628 TRUE 0.000651335 ENSE00001017721_025 ENSE00001017721 025 3 14952312 14952481 + 56 69 45 G A 14952448 273 137 AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGATCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910940 14910941 14910941 downstr_intron 12 1.27272727272727 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGATCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 1507 343 0.973094598523902 1 0.986547299261951 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.00231666405887709 0.131945937206342 0.985420679401234 0.919415998629342 NA 0.0671313006326094 NA FALSE NA 0.001 0.839 . intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/16 rs371552557 1 NA A:0 A:0.0001 GGT G,A 1.656e-05 3:14910941 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant 0.136614 0.34369 0.12815 0.062308 0.501697205621585 0.0731078 0.994386979064628 TRUE NA ENSE00001017721_026 ENSE00001017721 026 3 14952312 14952481 + 56 69 45 C G 14952452 274 141 AGAACTTGGCAGTTCCTGAGCTGGGCTTGCGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910944 14910945 14910945 downstr_intron 16 1.36363636363636 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCGCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 10 411 1 0.94248233829724 0.97124116914862 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.0744282755035814 0.985420679401234 0.919415998629342 NA 0.0518251705192782 NA FALSE NA 0 -0.162 . intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/16 1 NA CCC C,G 8.281e-06 3:14910945 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant -0.052586 0.21075 0.08143 0.062308 0.271074195308316 0.0640786 0.994386979064628 TRUE 8.59084e-06 ENSE00001017721_027 ENSE00001017721 027 3 14952312 14952481 + 56 69 45 A G 14952455 275 144 AGAACTTGGCAGTTCCTGAGCTGGGCCTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910947 14910948 14910948 downstr_intron 19 1.43181818181818 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAGGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 201 66 1 1 1 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA 0.0292220655349749 0.131945937206342 0.985420679401234 0.919415998629342 NA 0.0805840013706583 NA FALSE NA 0 -0.924 . intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/16 1 NA AAG A,G 1.657e-05 3:14910948 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant -0.00381 0.16989 0.01734 0.062308 0.282461943083141 0.0640786 0.994386979064628 TRUE 8.69611e-06 ENSE00001017721_028 ENSE00001017721 028 3 14952312 14952481 + 56 69 45 A T 14952460 276 149 AGAACTTGGCAGTTCCTGAGCAGGGCTTGGGGACCGGGCACTTACCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCCTGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 14910952 14910953 14910953 downstr_intron 24 1.54545454545455 GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCTGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT mutant NA NA NA NA NA 325 303 0.969519291451365 1 0.984759645725682 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 NA NA -0.0012586430136603 0.131945937206342 0.985420679401234 0.919415998629342 NA 0.0653436470963407 NA FALSE NA 0 -0.967 . intron_variant&non_coding_transcript_variant MODIFIER FGD5 HGNC 19117 ENST00000468662 8/16 1 NA CAG A,T 1.657e-05 3:14910953 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003503747 intron_variant 0.130398 0.16495 0.024 0.062308 0.525119411679698 0.0647611 0.994386979064628 TRUE 4.82965e-05 ENSE00001017721_BRK ENSE00001017721 BRK 3 14952312 14952481 + 56 69 45 A,G; T,T NA NA NA AGAACTTGGCAGTTCCTGAGCTGGGCTTGGGGACCGGGCACTTGGCAGAAATAGGTGCCGGGGCCGTCTGTTTTTCCCTGTTACTTTCATCAGCGTCCCTTCCTTCAGAAACTCAAGTGGGGAGAGAAGCAGAACTTGGCGGTCAGGCTGATGCCCCCTGAATCCCAGAC 14910804 14910974 NA NA NA NA NA NA GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACTTGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGCCAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT GTCTGGGATTCAGGGGGCATCAGCCTGACCGCCAAGTTCTGCTTCTCTCCCCACAGGAGTTTCTGAAGGAAGGGACGCTGATGAAAGTAACAGGGAAAAACAGACGGCCCCGGCACCTATTTCTGGTAAGTGCCCGGTCCCCAAGCCCAGCTCAGGAACTGCCAAGTTCT control 33 108 0 0 0 141 627 0 0 0 0.972097292777558 0.99874406602491 0.970777934465025 0.868054062793658 -0.972097292777558 -0.99874406602491 -0.970777934465025 -0.868054062793658 0.985420679401234 0.919415998629342 -0.985420679401234 -0.919415998629342 0.0660046807718925 TRUE TRUE NA NA NA NA NA FGD5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD5 NA NA NA ENSG00000154783 ENSE00003503747 NA NA NA NA NA NA NA 0.994386979064628 TRUE NA ENSE00001017732_000 ENSE00001017732 000 3 14949093 14949262 + 54 72 44 NA NA NA NA NA TCGCCCAGCCACCCTCTGCCCCTACCCATGGTGGCGGCACTCACCCTTCCTGGCTGGAGGAGATCCCCTTGGCCCCGGACGCTGTGCTCAATGTGGACCAGCTTCTGCAGGTTTTCCTGTGGGTGGGAATGGGGTGAGGGAGAGATGGTCAGGGCCCCTACCAGGCGTCT 14907585 14907755 NA NA NA NA NA NA AGACGCCTGGTAGGGGCCCTGACCATCTCTCCCTCACCCCATTCCCACCCACAGGAAAACCTGCAGAAGCTGGTCCACATTGAGCACAGCGTCCGGGGCCAAGGGGATCTCCTCCAGCCAGGAAGGGTGAGTGCCGCCACCATGGGTAGGGGCAGAGGGTGGCTGGGCGA AGACGCCTGGTAGGGGCCCTGACCATCTCTCCCTCACCCCATTCCCACCCACAGGAAAACCTGCAGAAGCTGGTCCACATTGAGCACAGCGTCCGGGGCCAAGGGGATCTCCTCCAGCCAGGAAGGGTGAGTGCCGCCACCATGGGTAGGGGCAGAGGGTGGCTGGGCGA natural NA NA NA NA NA 104 249 1 0.972163825089332 0.986081912544666 NA NA 1 0.972163825089332 NA NA 0 0 NA 0.986081912544666 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003530040 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00001017736_000 ENSE00001017736 000 3 14958708 14958877 + 48 84 38 NA NA NA NA NA GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 NA NA NA NA NA NA GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC natural 3038 4366 0.854765004261528 0.853655553972966 0.854210279117247 6812 5554 0.80196703644141 0.803488584533763 0.802727810487587 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 0 0 0 0 0.854210279117247 0.802727810487587 0 0 0 FALSE FALSE NA NA NA NA NA FGD5-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD5 NA NA NA ENSG00000154783 ENSE00003583916 NA NA NA NA NA NA NA 0.994386979064628 TRUE NA ENSE00001017736_001 ENSE00001017736 001 3 14958708 14958877 + 48 84 38 G A 14958720 277 13 GTCCCCCAACCCGGGGGTACCTGGCACCAGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCTCCAGAAGGCTGC 14917200 14917370 14917212 14917213 14917213 upstr_intron -36 -0.729166666666667 GCAGCCTTCTGGAGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 35 18 0.8 0.813847649661408 0.806923824830704 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.00196703644141039 0.0103590651276447 0.854210279117247 0.802727810487587 NA 0.00419601434311717 NA FALSE NA 0.001 0.448 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA GGG G,A 8.278e-06 3:14917213 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 0.420227 0.42719 0.07637 0.062308 0.783176994017645 0.0991354 0.994386979064628 TRUE NA ENSE00001017736_002 ENSE00001017736 002 3 14958708 14958877 + 48 84 38 T C 14958731 278 24 GTCCCCCAACCCGGGGGTACCTGGCACCAGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGGGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917223 14917224 14917224 upstr_intron -25 -0.5 GCAGCCTTCTGGGGCCAGGGTCCCCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 680 1859 0.0395018472335944 0.00493377298014467 0.0222178101068695 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.762465189207816 -0.798554811553619 0.854210279117247 0.802727810487587 NA -0.780510000380717 NA TRUE NA 0.001 -0.178 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA CTC T,C 8.276e-06 3:14917224 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 0.104767 0.14005 0.03587 0.099367 0.568874655088313 0.0882356 0.994386979064628 TRUE 2.96477e-05 ENSE00001017736_004 ENSE00001017736 004 3 14958708 14958877 + 48 84 38 C T 14958745 280 38 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCTCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917237 14917238 14917238 upstr_intron -11 -0.208333333333333 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCTCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 603 1200 0.999745776218573 0.996898442891132 0.998322109554852 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.197778739777162 0.193409858357369 0.854210279117247 0.802727810487587 NA 0.195594299067265 NA FALSE NA 0 0.175 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA CCC C,T 8.276e-06 3:14917238 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 1.051224 0.20607 0.02586 0.099367 0.809429597942969 0.117562 0.994386979064628 TRUE 4.11807e-06 ENSE00001017736_007 ENSE00001017736 007 3 14958708 14958877 + 48 84 38 A G 14958760 283 53 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAGCGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917252 14917253 14917253 exon 5 0.0595238095238095 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAGCGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 604 987 0.0660123577016502 0.0228471682328296 0.0444297629672399 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.73595467873976 -0.780641416300934 0.854210279117247 0.802727810487587 NA -0.758298047520347 NA TRUE NA 0.995 2.645 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA AAC A,G 8.275e-06 3:14917253 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 0.579282 0.95424 0.46251 0.706298 0.888084803637717 0 0.994386979064628 TRUE NA ENSE00001017736_008 ENSE00001017736 008 3 14958708 14958877 + 48 84 38 G A 14958762 284 55 GTCCCCCAACCCGGGGGTACCTGGCACCAGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATTGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917254 14917255 14917255 exon 7 0.0833333333333333 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACAATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 961 917 0.00125109158991751 0.0442743223542595 0.0227627069720885 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.800715944851493 -0.759214262179504 0.854210279117247 0.802727810487587 NA -0.779965103515498 NA TRUE NA 1 8.409 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA CGA G,A 8.274e-05 3:14917255 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 6.747152 0.99035 0.99302 0.706298 0.998815666884454 0 0.994386979064628 TRUE 7.3491e-05 ENSE00001017736_009 ENSE00001017736 009 3 14958708 14958877 + 48 84 38 C T 14958770 285 63 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTTCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917262 14917263 14917263 exon 15 0.178571428571429 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTTCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 367 434 0.8 0.8 0.8 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.00196703644141039 -0.00348858453376311 0.854210279117247 0.802727810487587 NA -0.00272781048758675 NA FALSE NA 0.987 -0.026 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 rs373345395 1 NA T:0 T:0.0001 TCC C,T 0.000182 3:14917263 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 synonymous_variant 2.131033 0.96004 0.66556 0.706298 0.818337588212747 0 0.994386979064628 TRUE 0.000126277 ENSE00001017736_011 ENSE00001017736 011 3 14958708 14958877 + 48 84 38 A G 14958775 287 68 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTGCACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917267 14917268 14917268 exon 20 0.238095238095238 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTGCACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 1364 2972 0.952841884506047 0.959815099332643 0.956328491919345 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.150874848064636 0.15632651479888 0.854210279117247 0.802727810487587 NA 0.153600681431758 NA FALSE NA 1 7.952 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 rs377365242 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0003 G:0 TAC A,G 0.0001241 3:14917268 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 6.422605 0.98847 0.99253 0.706298 0.997216642984311 0 0.994386979064628 TRUE 0.000134324 ENSE00001017736_012 ENSE00001017736 012 3 14958708 14958877 + 48 84 38 C T 14958776 288 69 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTATACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917268 14917269 14917269 exon 21 0.25 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTATACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 194 442 0.872663694050412 0.912280584969873 0.892472139510143 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.0706966576090017 0.10879200043611 0.854210279117247 0.802727810487587 NA 0.089744329022556 NA FALSE NA 1 2.463 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA ACA C,T 8.275e-06 3:14917269 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 synonymous_variant 1.270314 0.97824 0.9219 0.706298 0.852855867761032 0 0.994386979064628 TRUE 4.07179e-06 ENSE00001017736_013 ENSE00001017736 013 3 14958708 14958877 + 48 84 38 T C 14958780 289 73 GTCCCCCAACCCGGGGGTACCTGGCACCAGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATGGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917272 14917273 14917273 exon 25 0.297619047619048 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCCATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 218 429 0.0170905613667324 0.145083779281517 0.0810871703241245 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.784876475074678 -0.658404805252247 0.854210279117247 0.802727810487587 NA -0.721640640163462 NA TRUE NA 0.435 1.896 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA CTA T,C 1.655e-05 3:14917273 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 1.737176 0.27431 0.25771 0.706298 0.96494749408904 0 0.994386979064628 TRUE NA ENSE00001017736_015 ENSE00001017736 015 3 14958708 14958877 + 48 84 38 C T 14958783 291 76 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATTCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917275 14917276 14917276 exon 28 0.333333333333333 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATTCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 302 136 0.950562431351804 0.948249530693804 0.949405981022804 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.148595394910394 0.144760946160041 0.854210279117247 0.802727810487587 NA 0.146678170535217 NA FALSE NA 1 4.952 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 rs370769024 1 NA A:0.0003 A:0 TCC C,T 1.655e-05 3:14917276 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 6.44114 0.98245 0.95262 0.706298 0.998924076922237 0 0.994386979064628 TRUE 8.14133e-06 ENSE00001017736_016 ENSE00001017736 016 3 14958708 14958877 + 48 84 38 C T 14958784 292 77 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCTCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917276 14917277 14917277 exon 29 0.345238095238095 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCTCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 297 396 0.997803862400773 0.999600416191526 0.998702139296149 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.195836825959362 0.196111831657763 0.854210279117247 0.802727810487587 NA 0.195974328808563 NA FALSE NA 1 6.645 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA CCC C,T 1.655e-05 3:14917277 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 7.189396 0.98306 0.98342 0.706298 0.998790959004916 0 0.994386979064628 TRUE NA ENSE00001017736_017 ENSE00001017736 017 3 14958708 14958877 + 48 84 38 C T 14958804 293 97 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACTGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917296 14917297 14917297 exon -36 0.583333333333333 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACTGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 727 1002 0.00150113746081137 0.0561921237030397 0.0288466305819255 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.800465898980599 -0.747296460830723 0.854210279117247 0.802727810487587 NA -0.773881179905661 NA TRUE NA 1 4.082 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 COSM1738902&COSM1738901 1 NA CCG C,T 3.31e-05 3:14917297 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 7.540874 0.97661 0.91957 0.706298 0.999263038131806 0 0.994386979064628 TRUE 2.85109e-05 ENSE00001017736_018 ENSE00001017736 018 3 14958708 14958877 + 48 84 38 G A 14958805 294 98 GTCCCCCAACCCGGGGGTACCTGGCACCAGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCTGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917297 14917298 14917298 exon -35 0.595238095238095 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCAGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 95 706 0.917554921769012 0.846667450923431 0.882111186346221 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.115587885327602 0.0431788663896674 0.854210279117247 0.802727810487587 NA 0.0793833758586346 NA FALSE NA 1 1.975 rs188185209 downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 rs188185209 1 A:0.0010 A:0 A:0 NA A:0.003 A:0.001 A:0.001 A:0 A:0.0005 CGG G,A 0.0005047 3:14917298 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 3.590914 0.96488 0.84584 0.706298 0.979053805265921 0 0.994386979064628 TRUE 0.000419494 ENSE00001017736_019 ENSE00001017736 019 3 14958708 14958877 + 48 84 38 A G 14958814 295 107 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAGCACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917306 14917307 14917307 exon -26 0.702380952380952 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAGCACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 540 1530 0 0.118148170254601 0.0590740851273003 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.80196703644141 -0.685340414279162 0.854210279117247 0.802727810487587 NA -0.743653725360286 NA TRUE NA 0.981 0.892 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA AAC A,G 1.655e-05 3:14917307 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 0.325392 0.96091 0.5117 0.706298 0.767129530459874 0 0.994386979064628 TRUE 1.62977e-05 ENSE00001017736_020 ENSE00001017736 020 3 14958708 14958877 + 48 84 38 A G 14958818 296 111 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACGTTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917310 14917311 14917311 exon -22 0.75 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACGTTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 160 212 0.231700768592996 0.411851845821482 0.321776307207239 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.570266267848415 -0.391636738712282 0.854210279117247 0.802727810487587 NA -0.480951503280348 NA FALSE NA 0 -6.267 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA CAT A,G 8.274e-06 3:14917311 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 synonymous_variant -0.596033 0.27307 0.01021 0.706298 0.653091600329294 0 0.994386979064628 TRUE 8.15594e-06 ENSE00001017736_021 ENSE00001017736 021 3 14958708 14958877 + 48 84 38 G C 14958821 297 114 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTCGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917313 14917314 14917314 exon -19 0.785714285714286 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTCGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 619 393 0.945864428962822 0.950799806166117 0.948332117564469 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.143897392521411 0.147311221632354 0.854210279117247 0.802727810487587 NA 0.145604307076883 NA FALSE NA 0.885 1.574 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA TGG G,C 8.274e-06 3:14917314 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 missense_variant 4.313279 0.96703 0.90229 0.706298 0.997767114288868 0 0.994386979064628 TRUE 4.08183e-06 ENSE00001017736_022 ENSE00001017736 022 3 14958708 14958877 + 48 84 38 G A 14958827 298 120 GTCCCCCAACCCGGGGGTACCTGGCACCAGATATTTACCTTCATGTTGGCTACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917319 14917320 14917320 exon -13 0.857142857142857 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTAGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 372 831 0.794286888363684 0.763563989696074 0.778925439029879 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.00768014807772643 -0.0399245948376893 0.854210279117247 0.802727810487587 NA -0.0238023714577079 NA FALSE NA 1 1.116 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA TGG G,A 8.274e-06 3:14917320 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 synonymous_variant 0.50346 0.93692 0.8298 0.706298 0.688819495901898 0 0.994386979064628 TRUE NA ENSE00001017736_023 ENSE00001017736 023 3 14958708 14958877 + 48 84 38 T C 14958847 299 140 GTCCCCCAACCCGGGGGTACCTGGCACCAGGTATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917339 14917340 14917340 downstr_intron 8 1.21621621621622 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATACCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 177 510 0.885005107521349 0.8 0.842502553760674 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.0830380710799383 -0.00348858453376311 0.854210279117247 0.802727810487587 NA 0.0397747432730876 NA FALSE NA 0 -1.055 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA ATC T,C 3.31e-05 3:14917340 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 splice_region_variant -0.434126 0.15158 0.00553 0.062308 0.543046518224967 0.158176 0.994386979064628 TRUE NA ENSE00001017736_024 ENSE00001017736 024 3 14958708 14958877 + 48 84 38 C T 14958848 300 141 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATTTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917340 14917341 14917341 downstr_intron 9 1.24324324324324 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATTTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 3085 305 0.686651355290697 0.825586156840286 0.756118756065492 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.115315681150713 0.0220975723065231 0.854210279117247 0.802727810487587 NA -0.0466090544220951 NA FALSE NA 0.003 1.313 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 rs376842214 1 NA T:0 T:0.0002 TCT C,T 2.483e-05 3:14917341 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 0.237042 0.32232 0.06884 0.062308 0.629619699259761 0.158106 0.994386979064628 TRUE 1.66697e-05 ENSE00001017736_025 ENSE00001017736 025 3 14958708 14958877 + 48 84 38 T C 14958849 301 142 GTCCCCCAACCCGGGGGTACCTGGCACCGGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917341 14917342 14917342 downstr_intron 10 1.27027027027027 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCCGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 2569 768 0.763255023551313 0.8 0.781627511775656 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.0387120128900978 -0.00348858453376311 0.854210279117247 0.802727810487587 NA -0.0211002987119305 NA FALSE NA 0 -0.247 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA CTG T,C 8.275e-06 3:14917342 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 0.026087 0.19308 0.01067 0.062308 0.60294691666711 0.158106 0.994386979064628 TRUE 4.18344e-06 ENSE00001017736_027 ENSE00001017736 027 3 14958708 14958877 + 48 84 38 G A 14958850 303 143 GTCCCCCAACCCGGGGGTACCTGGCACTAGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917342 14917343 14917343 downstr_intron 11 1.2972972972973 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTAGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 907 2629 0.729585994750468 0.770080509972579 0.749833252361523 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.0723810416909428 -0.0334080745611838 0.854210279117247 0.802727810487587 NA -0.0528945581260633 NA FALSE NA 0.002 -0.124 NA NA NA FGD5-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:14917343 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 0.203009 0.13 0.00475 0.062308 0.534221677423757 0.158106 0.994386979064628 TRUE 4.18498e-06 ENSE00001017736_028 ENSE00001017736 028 3 14958708 14958877 + 48 84 38 C T 14958854 304 147 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGTCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 14917346 14917347 14917347 downstr_intron 15 1.40540540540541 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGTCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 626 1154 0.817161998075309 0.80065705732472 0.808909527700014 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.0151949616338983 -0.00283152720904301 0.854210279117247 0.802727810487587 NA 0.00618171721242766 NA FALSE NA 0 -0.622 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA GCC C,T 2.483e-05 3:14917347 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant -0.256701 0.11628 0.02391 0.062308 0.453392433325011 0.256998 0.994386979064628 TRUE NA ENSE00001017736_029 ENSE00001017736 029 3 14958708 14958877 + 48 84 38 T G 14958859 305 152 GTCCCCCAACCCGGGGGTCCCTGGCACCAGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917351 14917352 14917352 downstr_intron 20 1.54054054054054 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGGACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 490 782 0.818547318126692 0.9373146275216 0.877930972824146 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.0165802816852818 0.133826042987837 0.854210279117247 0.802727810487587 NA 0.0752031623365592 NA FALSE NA 0 -3.373 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA GTA T,G 1.656e-05 3:14917352 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 0.094721 0.12825 0.00838 0.062308 0.465753278868719 0.237855 0.994386979064628 TRUE 1.73436e-05 ENSE00001017736_030 ENSE00001017736 030 3 14958708 14958877 + 48 84 38 C T 14958863 306 156 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCTCCGGGTTGGGGGAC 14917200 14917370 14917355 14917356 14917356 downstr_intron 24 1.64864864864865 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCTCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 301 3622 0.796576709641538 0.826176938897821 0.811376824269679 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.00539032679987284 0.0226883543640581 0.854210279117247 0.802727810487587 NA 0.00864901378209265 NA FALSE NA 0 -0.877 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 1 NA CCC C,T 8.279e-06 3:14917356 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 0.162943 0.14344 0.0159 0.062308 0.386195401878803 0.237855 0.994386979064628 TRUE 4.39765e-06 ENSE00001017736_031 ENSE00001017736 031 3 14958708 14958877 + 48 84 38 C T 14958865 307 158 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCTGGGTTGGGGGAC 14917200 14917370 14917357 14917358 14917358 downstr_intron 26 1.7027027027027 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCTGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 446 2506 0.790858073531455 0.807510351118731 0.799184212325093 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.0111089629099556 0.00402176658496767 0.854210279117247 0.802727810487587 NA -0.00354359816249394 NA FALSE NA 0 -0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:14917358 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant -0.156139 0.1181 0.00844 0.062308 0.898294856753239 0.237855 0.994386979064628 TRUE 0.122684 ENSE00001017736_032 ENSE00001017736 032 3 14958708 14958877 + 48 84 38 C G 14958865 308 158 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCGGGGTTGGGGGAC 14917200 14917370 14917357 14917358 14917358 downstr_intron 26 1.7027027027027 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCGGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 955 630 0.875870179308193 0.892330909046315 0.884100544177254 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA 0.0739031428667825 0.0888423245125516 0.854210279117247 0.802727810487587 NA 0.081372733689667 NA FALSE NA 0 -0.32 NA NA NA FGD5-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD5 NA NA NA ENSG00000154783 ENSE00003583916 intron_variant -0.302608 0.06497 0.00028 0.062308 0.179710306376168 0.237855 0.994386979064628 TRUE 0.000459141 ENSE00001017736_033 ENSE00001017736 033 3 14958708 14958877 + 48 84 38 G A 14958866 309 159 GTCCCCCAACCTGGGGGTACCTGGCACCAGATATTTACCTTCATGTTGGCCACAGCCAATGTGTTCTTCAGCCGGTACTTCCCATCCTTCTGGGGATAGGTGTACAGGAGCACATCGTTCATCTGGAGAGAGGGAAACCCTATGAGAGGACCCTGGCCCCAGAAGGCTGC 14917200 14917370 14917358 14917359 14917359 downstr_intron 27 1.72972972972973 GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCAGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC mutant NA NA NA NA NA 95 99 0.050791609597526 0.0343775874802689 0.0425845985388975 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 NA NA -0.751175426843884 -0.769110997053494 0.854210279117247 0.802727810487587 NA -0.760143211948689 NA TRUE NA 0 0.242 . downstream_gene_variant MODIFIER FGD5-AS1 HGNC 40410 ENST00000430166 rs368677110 1 NA A:0.0003 A:0 CGG G,A 9.936e-05 3:14917359 FGD5 HGNC Symbol protein_coding 123712 ENSG00000154783 ENSE00003583916 intron_variant 0.391135 0.1881 0.03343 0.062308 0.611596886727678 0.237855 0.994386979064628 TRUE 8.51606e-05 ENSE00001017736_BRK ENSE00001017736 BRK 3 14958708 14958877 + 48 84 38 A,G; T,T NA NA NA GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCTTATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGCCAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC 14917200 14917370 NA NA NA NA NA NA GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCTTATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGCCAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC GCAGCCTTCTGGGGCCAGGGTCCTCTCATAGGGTTTCCCTCTCTCCAGATGAACGATGTGCTCCTGTACACCTATCCCCAGAAGGATGGGAAGTACCGGCTGAAGAACACATTGGCTGTGGCCAACATGAAGGTAAATATCTGGTGCCAGGTACCCCCGGGTTGGGGGAC control 559 227 0 0 0 2103 709 0.0193072886727118 0.00116550388851227 0.010236396280612 0.854765004261528 0.853655553972966 0.80196703644141 0.803488584533763 -0.854765004261528 -0.853655553972966 -0.782659747768699 -0.802323080645251 0.854210279117247 0.802727810487587 -0.854210279117247 -0.792491414206975 0.0617188649102725 TRUE TRUE NA NA NA NA NA FGD5-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD5 NA NA NA ENSG00000154783 ENSE00003583916 NA NA NA NA NA NA NA 0.994386979064628 TRUE NA ENSE00001017830_000 ENSE00001017830 000 18 46383896 46384065 + 63 54 53 NA NA NA NA NA GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 NA NA NA NA NA NA GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG natural 48 37 0.981290560932466 0.988774459872951 0.985032510402709 925 252 0.98228591195943 0.985861422304332 0.984073667131881 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 0 0 0 0 0.985032510402709 0.984073667131881 0 0 0 FALSE FALSE NA NA NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTIF NA NA NA ENSG00000134030 ENSE00003575429 NA NA NA NA NA NA NA 0.982754580423637 TRUE NA ENSE00001017830_001 ENSE00001017830 001 18 46383896 46384065 + 63 54 53 G A 46383912 562 17 GCTACAGGGCCCAGTAACCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857540 48857541 48857541 upstr_intron -47 -0.73015873015873 GCTACAGGGCCCAGTAACCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 819 512 1 0.954825487438484 0.977412743719242 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0177140880405696 -0.0310359348658479 0.985032510402709 0.984073667131881 NA -0.00666092341263913 NA FALSE NA 0.017 1.151 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 11/12 1 NA AGC G,A 8.237e-06 18:48857541 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant 0.214288 0.1631 0.05351 0.062308 0.426218979616269 0.0379778 0.982754580423637 TRUE 9.37356e-06 ENSE00001017830_003 ENSE00001017830 003 18 46383896 46384065 + 63 54 53 G A 46383916 564 21 GCTACAGGGCCCAGTAGCCGACATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857544 48857545 48857545 upstr_intron -43 -0.666666666666667 GCTACAGGGCCCAGTAGCCGACATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 248 483 0.999214865962391 0.999525839622829 0.99937035279261 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0169289540029601 0.0136644173184969 0.985032510402709 0.984073667131881 NA 0.0152966856607285 NA FALSE NA 0 -2.584 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 11/12 1 NA GGC G,A 2.471e-05 18:48857545 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant 0.245331 0.27539 0.04545 0.062308 0.447054418800516 0.0386214 0.982754580423637 TRUE 2.76101e-05 ENSE00001017830_004 ENSE00001017830 004 18 46383896 46384065 + 63 54 53 C A 46383925 565 30 GCTACAGGGCCCAGTAGCCGGCATGTCTCATTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857553 48857554 48857554 upstr_intron -34 -0.523809523809524 GCTACAGGGCCCAGTAGCCGGCATGTCTCATTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 185 550 1 0.996183332782093 0.998091666391046 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0177140880405696 0.0103219104777605 0.985032510402709 0.984073667131881 NA 0.0140179992591651 NA FALSE NA 0.001 0.18 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 11/12 1 NA CCT C,A 8.237e-06 18:48857554 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant 0.603719 0.34826 0.13672 0.062308 0.734004244545904 0.0386214 0.982754580423637 TRUE 4.35908e-06 ENSE00001017830_005 ENSE00001017830 005 18 46383896 46384065 + 63 54 53 G T 46383930 566 35 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCATTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857558 48857559 48857559 upstr_intron -29 -0.444444444444444 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCATTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 31 382 1 0.993324759465847 0.996662379732923 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0177140880405696 0.00746333716151437 0.985032510402709 0.984073667131881 NA 0.012588712601042 NA FALSE NA 0.06 1.62 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 11/12 rs537624585 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 AGT G,T 0.0002142 18:48857559 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant 0.036039 0.19831 0.03691 0.062308 0.63190014261408 0.0379778 0.982754580423637 TRUE 0.000198071 ENSE00001017830_006 ENSE00001017830 006 18 46383896 46384065 + 63 54 53 C T 46383938 567 43 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTTTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857566 48857567 48857567 upstr_intron -21 -0.317460317460317 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTTTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 208 124 1 1 1 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0177140880405696 0.0141385776956678 0.985032510402709 0.984073667131881 NA 0.0159263328681187 NA FALSE NA 0 -0.563 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 11/12 1 NA TCT C,T 8.237e-06 18:48857567 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant 0.384378 0.19217 0.09482 0.062308 0.753468972007386 0.0605817 0.982754580423637 TRUE 8.41942e-06 ENSE00001017830_007 ENSE00001017830 007 18 46383896 46384065 + 63 54 53 C G 46383946 568 51 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCGTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857574 48857575 48857575 upstr_intron -13 -0.19047619047619 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCGTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 186 31 0.987650933893537 1 0.993825466946768 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.00536502193410637 0.0141385776956678 0.985032510402709 0.984073667131881 NA 0.00975179981488711 NA FALSE NA 0 -0.207 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 11/12 rs376200583 1 NA G:0.0002 G:0 CCT C,G 2.471e-05 18:48857575 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant 0.177434 0.22197 0.18945 0.162113 0.539995243223753 0.139175 0.982754580423637 TRUE 1.66685e-05 ENSE00001017830_008 ENSE00001017830 008 18 46383896 46384065 + 63 54 53 C T 46383953 569 58 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTTCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857581 48857582 48857582 upstr_intron -6 -0.0793650793650794 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTTCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 225 481 0.998712589932606 0.999671059445713 0.99919182468916 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0164266779731761 0.0138096371413806 0.985032510402709 0.984073667131881 NA 0.0151181575572784 NA FALSE NA 0.029 2.124 . splice_region_variant&intron_variant LOW CTIF HGNC 23925 ENST00000382998 11/12 1 NA TCC C,T 8.237e-06 18:48857582 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 splice_region_variant 1.027267 0.25704 0.11234 0.162113 0.668819275662094 0.152985 0.982754580423637 TRUE 8.27657e-06 ENSE00001017830_009 ENSE00001017830 009 18 46383896 46384065 + 63 54 53 G A 46383964 570 69 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTACAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857592 48857593 48857593 exon 6 0.111111111111111 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTACAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 13 920 1 0.99962683470248 0.99981341735124 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0177140880405696 0.0137654123981478 0.985032510402709 0.984073667131881 NA 0.0157397502193587 NA FALSE NA 1 0.934 rs113570978 synonymous_variant LOW CTIF HGNC 23925 ENST00000382998 12/13 rs113570978 1 A:0.0010 A:0.003 A:0.0014 NA A:0 A:0 A:0 A:0.0009 A:0.0001 TGC G,A 0.0002883 18:48857593 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 synonymous_variant 1.168336 0.97226 0.89193 0.706298 0.749377987797612 0 0.982754580423637 TRUE 0.000236201 ENSE00001017830_012 ENSE00001017830 012 18 46383896 46384065 + 63 54 53 G A 46383979 573 84 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTAAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857607 48857608 48857608 exon 21 0.388888888888889 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTAAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 146 20 1 1 1 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0177140880405696 0.0141385776956678 0.985032510402709 0.984073667131881 NA 0.0159263328681187 NA FALSE NA 1 2.136 . synonymous_variant LOW CTIF HGNC 23925 ENST00000382998 12/13 1 NA TGA G,A 1.647e-05 18:48857608 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 synonymous_variant 1.584949 0.97271 0.91476 0.706298 0.83928427937889 0 0.982754580423637 TRUE 4.14546e-06 ENSE00001017830_014 ENSE00001017830 014 18 46383896 46384065 + 63 54 53 T C 46384020 575 125 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTCTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857648 48857649 48857649 downstr_intron 8 1.15384615384615 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTCTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 404 454 1 1 1 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0177140880405696 0.0141385776956678 0.985032510402709 0.984073667131881 NA 0.0159263328681187 NA FALSE NA 0 -1.547 . splice_region_variant&intron_variant LOW CTIF HGNC 23925 ENST00000382998 12/12 1 NA TTT T,C 8.237e-06 18:48857649 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 splice_region_variant -0.545429 0.1403 0.00559 0.062308 0.494193192685114 0.169835 0.982754580423637 TRUE NA ENSE00001017830_015 ENSE00001017830 015 18 46383896 46384065 + 63 54 53 G T 46384025 576 130 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGTCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857653 48857654 48857654 downstr_intron 13 1.25 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGTCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 287 241 0.867203527857249 0.854433626846715 0.860818577351982 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA -0.115082384102181 -0.131427795457617 0.985032510402709 0.984073667131881 NA -0.123255089779899 NA FALSE NA 0.045 1.521 rs181150148 intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 12/12 rs181150148 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GGC G,T 8.237e-06 18:48857654 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant -0.217566 0.18409 0.32485 0.062308 0.572321998553899 0.155319 0.982754580423637 TRUE 4.27051e-06 ENSE00001017830_017 ENSE00001017830 017 18 46383896 46384065 + 63 54 53 G A 46384030 578 135 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCAACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 48857658 48857659 48857659 downstr_intron 18 1.34615384615385 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCAACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 589 493 0.998310950001691 0.986624302278162 0.992467626139926 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0160250380422602 0.000762879973830177 0.985032510402709 0.984073667131881 NA 0.00839395900804518 NA FALSE NA 0 0.141 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 12/12 rs200579284 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.002 A:0.0001 CGA G,A 0.0002389 18:48857659 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant -0.239795 0.1328 0.02793 0.062308 0.353077541724032 0.046323 0.982754580423637 TRUE 0.000146633 ENSE00001017830_020 ENSE00001017830 020 18 46383896 46384065 + 63 54 53 C T 46384050 581 155 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCTGGTGCATCTCTCATG 48857524 48857694 48857678 48857679 48857679 downstr_intron 38 1.73076923076923 GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCTGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG mutant NA NA NA NA NA 480 116 1 0.964374947049508 0.982187473524754 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 NA NA 0.0177140880405696 -0.0214864752548244 0.985032510402709 0.984073667131881 NA -0.00188619360712738 NA FALSE NA 0 -1.968 . intron_variant MODIFIER CTIF HGNC 23925 ENST00000382998 12/12 1 NA CCG C,T 8.238e-06 18:48857679 CTIF HGNC Symbol protein_coding 324171 ENSG00000134030 ENSE00003575429 intron_variant -0.143695 0.1183 0.00789 0.062308 0.584276255051637 0.046323 0.982754580423637 TRUE 1.80927e-05 ENSE00001017830_BRK ENSE00001017830 BRK 18 46383896 46384065 + 63 54 53 A,G; T,T NA NA NA GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACTTCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGCCAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG 48857524 48857694 NA NA NA NA NA NA GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACTTCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGCCAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG GCTACAGGGCCCAGTAGCCGGCATGTCTCCTTCAGTGGTGCTCTCTGCCCCTCTCTTCCACAGCTCTTGCAATCTCAGGATGTGAAGGAAGATGCTGTCCTTTGCTGCTCTATGGAGGTAAGCTTTGGGGCTTCGACATCCCCAACCTCAAAGCCGGTGCATCTCTCATG control 310 55 0 0 0 NA NA NA NA NA 0.981290560932466 0.988774459872951 0.98228591195943 0.985861422304332 -0.981290560932466 -0.988774459872951 NA NA 0.985032510402709 0.984073667131881 -0.985032510402709 NA NA NA TRUE NA NA NA NA NA CTIF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTIF NA NA NA ENSG00000134030 ENSE00003575429 NA NA NA NA NA NA NA 0.982754580423637 TRUE NA ENSE00001018642_000 ENSE00001018642 000 17 49730970 49731139 - 32 96 42 NA NA NA NA NA TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC 51653608 51653778 NA NA NA NA NA NA TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC natural NA NA NA NA NA 1231 1798 0.992835882944078 0.925431269357047 0.959133576150562 NA NA 0.992835882944078 0.925431269357047 NA NA 0 0 NA 0.959133576150562 NA 0 NA FALSE NA NA NA NA NA NA CA10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA10 NA NA NA ENSG00000154975 ENSE00003582466 NA NA NA NA NA NA NA 0.973117501696163 TRUE NA ENSE00001018642_009 ENSE00001018642 009 17 49730970 49731139 - 32 96 42 A G 49731028 2617 112 TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGACTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC 51653608 51653778 51653666 51653667 51653667 exon -27 0.729166666666667 TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGACTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC mutant NA NA NA NA NA 68 116 1 1 1 NA NA 0.992835882944078 0.925431269357047 NA NA 0.00716411705592224 0.074568730642953 NA 0.959133576150562 NA 0.0408664238494376 NA FALSE NA 1 2.791 . synonymous_variant LOW CA10 HGNC 1369 ENST00000285273 6/10 1 NA AAT A,G 8.236e-06 17:51653667 CA10 HGNC Symbol protein_coding 529704 ENSG00000154975 ENSE00003582466 synonymous_variant 0.721445 0.9754 0.82247 0.554377 0.822955240856846 0 0.973117501696163 TRUE 4.06319e-06 ENSE00001018642_010 ENSE00001018642 010 17 49730970 49731139 - 32 96 42 G A 49731045 2618 95 TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGTAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC 51653608 51653778 51653683 51653684 51653684 exon -44 0.552083333333333 TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGTAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC mutant NA NA NA NA NA 28 42 1 1 1 NA NA 0.992835882944078 0.925431269357047 NA NA 0.00716411705592224 0.074568730642953 NA 0.959133576150562 NA 0.0408664238494376 NA FALSE NA 1 9.303 . missense_variant MODERATE CA10 HGNC 1369 ENST00000285273 6/10 1 tolerated(0.23) benign(0.016) NA TGC G,A 8.236e-06 17:51653684 CA10 HGNC Symbol protein_coding 529704 ENSG00000154975 ENSE00003582466 missense_variant 3.356182 0.99422 0.98959 0.554377 0.761694356034424 0 0.973117501696163 TRUE 4.06306e-06 ENSE00001018642_015 ENSE00001018642 015 17 49730970 49731139 - 32 96 42 C A 49731127 2623 13 TGTTGGATTATTTTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC 51653608 51653778 51653765 51653766 51653766 upstr_intron -30 -0.69047619047619 TGTTGGATTATTTTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC TGTTGGATTATTGTTCTGATTCTTGTTTTTCCCTCCTGCCAGGTGCAGCTCATCCACTATAACCATGAGCTATATACGAATGTCACAGAAGCTGCAAAGAGTCCAAATGGATTGGTGGTAGTTTCTATATTTATAAAAGTAAGTCTCTTGCATTCCTTCATTCTTCTCAC mutant NA NA NA NA NA 137 1631 1 0.996226005618818 0.998113002809409 NA NA 0.992835882944078 0.925431269357047 NA NA 0.00716411705592224 0.0707947362617714 NA 0.959133576150562 NA 0.0389794266588468 NA FALSE NA 0.85 1.683 . intron_variant MODIFIER CA10 HGNC 1369 ENST00000285273 5/9 1 NA ACA C,A 8.236e-06 17:51653766 CA10 HGNC Symbol protein_coding 529704 ENSG00000154975 ENSE00003582466 intron_variant 0.349149 0.8352 0.58151 0.053691 0.634223781340869 0.118451 0.973117501696163 TRUE 4.11458e-06 ENSE00001018977_000 ENSE00001018977 000 8 86356219 86356388 + 44 93 33 NA NA NA NA NA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 NA NA NA NA NA NA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA natural 27 28 0.994601836050658 0.990512521831111 0.992557178940885 7948 5573 0.947312358805079 0.925194408135645 0.936253383470362 0.994601836050658 0.990512521831111 0.947312358805079 0.925194408135645 0 0 0 0 0.992557178940885 0.936253383470362 0 0 0 FALSE FALSE NA NA NA NA NA CA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA3 NA NA NA ENSG00000164879 ENSE00001018977 NA NA NA NA NA NA NA 4.68813817881995e-05 FALSE NA ENSE00001018977_BRK ENSE00001018977 BRK 8 86356219 86356388 + 44 93 33 A,G; T,T NA NA NA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCTTCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGCCAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 NA NA NA NA NA NA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCTTCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGCCAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA control NA NA NA NA NA 567 1092 0.0810008330183176 0.133085151869198 0.107042992443758 0.994601836050658 0.990512521831111 0.947312358805079 0.925194408135645 NA NA -0.866311525786761 -0.792109256266447 0.992557178940885 0.936253383470362 NA -0.829210391026604 NA TRUE NA NA NA NA NA NA CA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA3 NA NA NA ENSG00000164879 ENSE00001018977 NA NA NA NA NA NA NA 4.68813817881995e-05 FALSE NA ENSE00001019569_000 ENSE00001019569 000 8 51571098 51571267 + 54 72 44 NA NA NA NA NA GCTGAGGAAAAGCCATTCAAATACTGACTACATATTGATCATACCTTGAGGATCTTGCACATAATCTCATAAACTGAGAATGTTTTCTCTGCTCTCGTCCAGTCCCAGGTGGTCACCTTTAAAAGATAAGAAAATAATGTTTAATTTGTTTTAGAAAGTTATTTACCACT 50658537 50658707 NA NA NA NA NA NA AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC natural NA NA NA NA NA 1497 1322 0.998019562177512 0.998532594083195 0.998276078130353 NA NA 0.998019562177512 0.998532594083195 NA NA 0 0 NA 0.998276078130353 NA 0 NA FALSE NA NA NA NA NA NA SNTG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNTG1 NA NA NA ENSG00000147481 ENSE00001019569 NA NA NA NA NA NA NA 0.0379275653329757 FALSE NA ENSE00001019569_003 ENSE00001019569 003 8 51571098 51571267 + 54 72 44 T A 51571124 1217 27 GCTGAGGAAAAGCCATTCAAATACTGACTACATATTGATCATACCTTGAGGATCTTGCACATAATCTCATAAACTGAGAATGTTTTCTCTGCTCTCGTCCAGTCCCAGGTGGTCACCTTTAAAAGATAAGAAAATAATGTTTATTTTGTTTTAGAAAGTTATTTACCACT 50658537 50658707 50658563 50658564 50658564 upstr_intron -28 -0.5 AGTGGTAAATAACTTTCTAAAACAAAATAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 756 1824 0.994197471267258 0.99818522369569 0.996191347481474 NA NA 0.998019562177512 0.998532594083195 NA NA -0.00382209091025332 -0.000347370387504875 NA 0.998276078130353 NA -0.0020847306488791 NA FALSE NA 0.01 0.622 . intron_variant MODIFIER SNTG1 HGNC 13740 ENST00000517473 13/16 1 NA ATT T,A 8.239e-06 8:50658564 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 intron_variant 0.577025 0.3186 0.25615 0.053691 0.662827245942471 0.0436289 0.0379275653329757 FALSE 4.48085e-06 ENSE00001019569_011 ENSE00001019569 011 8 51571098 51571267 + 54 72 44 G A 51571172 1225 75 GCTGAGGAAAAGCCATTCAAATACTGACTACATATTGATCATACCTTGAGGATCTTGCACATAATCTCATAAACTGAGAATGTTTTCTCTGCTCTTGTCCAGTCCCAGGTGGTCACCTTTAAAAGATAAGAAAATAATGTTTAATTTGTTTTAGAAAGTTATTTACCACT 50658537 50658707 50658611 50658612 50658612 exon 21 0.291666666666667 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACAAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 101 227 1 0.967080586909515 0.983540293454758 NA NA 0.998019562177512 0.998532594083195 NA NA 0.00198043782248847 -0.0314520071736796 NA 0.998276078130353 NA -0.0147357846755956 NA FALSE NA 0.957 0.065 rs1911830 synonymous_variant LOW SNTG1 HGNC 13740 ENST00000517473 14/17 rs1911830&COSM3763355&COSM3763354 1 G:0.4930 A:0.2262 A:0.6153 NA A:0.6786 A:0.6909 A:0.4438 A:0.3071 A:0.6783 CGA G,A 0.607 8:50658612 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 synonymous_variant 0.969954 0.54212 0.21184 0.554377 0.674236345260735 0 0.0379275653329757 FALSE 0.612855 ENSE00001019569_013 ENSE00001019569 013 8 51571098 51571267 + 54 72 44 C T 51571186 1227 89 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAATATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC 50658537 50658707 50658625 50658626 50658626 exon 35 0.486111111111111 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAATATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 138 279 1 1 1 NA NA 0.998019562177512 0.998532594083195 NA NA 0.00198043782248847 0.00146740591680528 NA 0.998276078130353 NA 0.00172392186964687 NA FALSE NA 1 3.764 . missense_variant MODERATE SNTG1 HGNC 13740 ENST00000517473 14/17 rs369989783 1 tolerated(0.3) benign(0.013) NA T:0 T:0.0001 ACA C,T 1.647e-05 8:50658626 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 missense_variant 2.183988 0.97091 0.71047 0.487112 0.760368968348605 0 0.0379275653329757 FALSE 8.20197e-06 ENSE00001019569_014 ENSE00001019569 014 8 51571098 51571267 + 54 72 44 A G 51571187 1228 90 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACGTTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC 50658537 50658707 50658626 50658627 50658627 exon 36 0.5 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACGTTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 127 55 1 1 1 NA NA 0.998019562177512 0.998532594083195 NA NA 0.00198043782248847 0.00146740591680528 NA 0.998276078130353 NA 0.00172392186964687 NA FALSE NA 0.996 0.787 . synonymous_variant LOW SNTG1 HGNC 13740 ENST00000517473 14/17 1 NA CAT A,G 1.647e-05 8:50658627 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 synonymous_variant 0.419275 0.96011 0.57752 0.487112 0.768076147054231 0 0.0379275653329757 FALSE 1.22926e-05 ENSE00001019569_016 ENSE00001019569 016 8 51571098 51571267 + 54 72 44 T C 51571204 1230 107 GCTGAGGAAAAGCCATTCAAATACTGACTACATATTGATCATACCTTGAGGATCTTGCACATAGTCTCATAAACTGAGAATGTTTTCTCTGCTCTCGTCCAGTCCCAGGTGGTCACCTTTAAAAGATAAGAAAATAATGTTTAATTTGTTTTAGAAAGTTATTTACCACT 50658537 50658707 50658643 50658644 50658644 exon -20 0.736111111111111 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGACTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 3262 11 0.998612663276005 0.8 0.899306331638003 NA NA 0.998019562177512 0.998532594083195 NA NA 0.000593101098493864 -0.198532594083195 NA 0.998276078130353 NA -0.0989697464923504 NA FALSE NA 1 6.277 . missense_variant MODERATE SNTG1 HGNC 13740 ENST00000517473 14/17 COSM1553113&COSM1553112 1 tolerated(0.23) benign(0.13) NA ATT T,C 8.237e-06 8:50658644 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 missense_variant 1.865711 0.98428 0.93023 0.487112 0.781179018320442 0 0.0379275653329757 FALSE 4.10075e-06 ENSE00001019569_018 ENSE00001019569 018 8 51571098 51571267 + 54 72 44 G A 51571210 1232 113 GCTGAGGAAAAGCCATTCAAATACTGACTACATATTGATCATACCTTGAGGATCTTGTACATAATCTCATAAACTGAGAATGTTTTCTCTGCTCTCGTCCAGTCCCAGGTGGTCACCTTTAAAAGATAAGAAAATAATGTTTAATTTGTTTTAGAAAGTTATTTACCACT 50658537 50658707 50658649 50658650 50658650 exon -14 0.819444444444444 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTACAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 397 114 0.991324353855237 0.883058727913969 0.937191540884603 NA NA 0.998019562177512 0.998532594083195 NA NA -0.0066952083222741 -0.115473866169226 NA 0.998276078130353 NA -0.0610845372457498 NA FALSE NA 1 1.792 . missense_variant MODERATE SNTG1 HGNC 13740 ENST00000517473 14/17 1 tolerated(0.19) benign(0.003) NA TGC G,A 8.237e-06 8:50658650 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 missense_variant 2.598433 0.95997 0.70919 0.487112 0.900779437493532 0 0.0379275653329757 FALSE 4.10182e-06 ENSE00001019569_019 ENSE00001019569 019 8 51571098 51571267 + 54 72 44 C T 51571218 1233 121 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCTTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC 50658537 50658707 50658657 50658658 50658658 exon -6 0.930555555555556 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCTTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 225 364 1 1 1 NA NA 0.998019562177512 0.998532594083195 NA NA 0.00198043782248847 0.00146740591680528 NA 0.998276078130353 NA 0.00172392186964687 NA FALSE NA 1 1.375 . missense_variant MODERATE SNTG1 HGNC 13740 ENST00000517473 14/17 1 tolerated(0.14) benign(0.01) NA CCT C,T 1.647e-05 8:50658658 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 missense_variant 2.52601 0.96105 0.576 0.487112 0.971757078291416 0 0.0379275653329757 FALSE 4.11672e-06 ENSE00001019569_020 ENSE00001019569 020 8 51571098 51571267 + 54 72 44 T A 51571227 1234 130 GCTGAGGAAAAGCCATTCAAATACTGACTACATATTGATCTTACCTTGAGGATCTTGCACATAATCTCATAAACTGAGAATGTTTTCTCTGCTCTCGTCCAGTCCCAGGTGGTCACCTTTAAAAGATAAGAAAATAATGTTTAATTTGTTTTAGAAAGTTATTTACCACT 50658537 50658707 50658666 50658667 50658667 downstr_intron 4 1.09302325581395 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTAAGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 25 112 1 1 1 NA NA 0.998019562177512 0.998532594083195 NA NA 0.00198043782248847 0.00146740591680528 NA 0.998276078130353 NA 0.00172392186964687 NA FALSE NA 0.965 0.251 . splice_region_variant&intron_variant LOW SNTG1 HGNC 13740 ENST00000517473 14/16 rs377631905 1 NA A:0 A:0.0001 ATG T,A 2.471e-05 8:50658667 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 splice_region_variant 1.334317 0.94286 0.57503 0.053691 0.824550309099482 0.485125 0.0379275653329757 FALSE 1.24785e-05 ENSE00001019569_021 ENSE00001019569 021 8 51571098 51571267 + 54 72 44 A G 51571235 1235 138 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATGTGTAGTCAGTATTTGAATGGCTTTTCCTCAGC 50658537 50658707 50658674 50658675 50658675 downstr_intron 12 1.27906976744186 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATGTGTAGTCAGTATTTGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 237 176 1 0.994635727707107 0.997317863853554 NA NA 0.998019562177512 0.998532594083195 NA NA 0.00198043782248847 -0.00389686637608755 NA 0.998276078130353 NA -0.000958214276799541 NA FALSE NA 0.608 2.246 rs184675922 intron_variant MODIFIER SNTG1 HGNC 13740 ENST00000517473 14/16 rs184675922 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 TAT A,G 3.295e-05 8:50658675 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 intron_variant 0.506563 0.3059 0.45168 0.053691 0.704669644109673 0.589167 0.0379275653329757 FALSE 6.80081e-05 ENSE00001019569_023 ENSE00001019569 023 8 51571098 51571267 + 54 72 44 T A 51571248 1237 151 GCTGAGGAAAAGCCATTCATATACTGACTACATATTGATCATACCTTGAGGATCTTGCACATAATCTCATAAACTGAGAATGTTTTCTCTGCTCTCGTCCAGTCCCAGGTGGTCACCTTTAAAAGATAAGAAAATAATGTTTAATTTGTTTTAGAAAGTTATTTACCACT 50658537 50658707 50658687 50658688 50658688 downstr_intron 25 1.58139534883721 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATATGAATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 866 397 0.991394948650786 0.99316653842027 0.992280743535528 NA NA 0.998019562177512 0.998532594083195 NA NA -0.00662461352672594 -0.00536605566292514 NA 0.998276078130353 NA -0.00599533459482554 NA FALSE NA 0 0.321 . intron_variant MODIFIER SNTG1 HGNC 13740 ENST00000517473 14/16 1 NA TTT T,A 8.238e-06 8:50658688 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 intron_variant 0.487875 0.2156 0.14704 0.053691 0.775418314082793 0.0889542 0.0379275653329757 FALSE 4.47155e-06 ENSE00001019569_024 ENSE00001019569 024 8 51571098 51571267 + 54 72 44 A C 51571251 1238 154 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGCATGGCTTTTCCTCAGC 50658537 50658707 50658690 50658691 50658691 downstr_intron 28 1.65116279069767 AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGCATGGCTTTTCCTCAGC AGTGGTAAATAACTTTCTAAAACAAATTAAACATTATTTTCTTATCTTTTAAAGGTGACCACCTGGGACTGGACGAGAGCAGAGAAAACATTCTCAGTTTATGAGATTATGTGCAAGATCCTCAAGGTATGATCAATATGTAGTCAGTATTTGAATGGCTTTTCCTCAGC mutant NA NA NA NA NA 80 18 1 0.8 0.9 NA NA 0.998019562177512 0.998532594083195 NA NA 0.00198043782248847 -0.198532594083195 NA 0.998276078130353 NA -0.0982760781303531 NA FALSE NA 0 0.133 . intron_variant MODIFIER SNTG1 HGNC 13740 ENST00000517473 14/16 rs371077520 1 NA C:0.0002 C:0 GAA A,C 1.648e-05 8:50658691 SNTG1 HGNC Symbol protein_coding 886902 ENSG00000147481 ENSE00001019569 intron_variant 0.05278 0.127 0.01823 0.053691 0.740943096792898 0.0889542 0.0379275653329757 FALSE 8.92236e-06 ENSE00001020341_000 ENSE00001020341 000 8 59739342 59739511 - 39 81 50 NA NA NA NA NA GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGCGAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTATAGACCTGCAACAACAGCAAAGAGTCTTAAATTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 NA NA NA NA NA NA AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC natural 79 42 0.968349786285755 0.99768234578233 0.983016066034042 881 3137 0.990902870731582 0.999413794099964 0.995158332415773 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 0 0 0 0 0.983016066034042 0.995158332415773 0 0 0 FALSE FALSE NA NA NA NA NA TOX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOX NA NA NA ENSG00000198846 ENSE00001020341 NA NA NA NA NA NA NA 0.892971024523591 FALSE NA ENSE00001020341_006 ENSE00001020341 006 8 59739342 59739511 - 39 81 50 C T 59739410 1285 102 GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGTGAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTATAGACCTGCAACAACAGCAAAGAGTCTTAAATTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 58826850 58826851 58826851 exon -30 0.641975308641975 AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCACAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC mutant NA NA NA NA NA 18 231 1 1 1 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 NA NA 0.00909712926841788 0.000586205900035885 0.983016066034042 0.995158332415773 NA 0.00484166758422688 NA FALSE NA 1 7.796 . missense_variant MODERATE TOX HGNC 18988 ENST00000361421 6/9 rs377240054&COSM3942703&COSM751093 1 deleterious(0) probably_damaging(0.995) NA T:0.0002 T:0 GCG C,T 1.648e-05 8:58826851 TOX HGNC Symbol protein_coding 313790 ENSG00000198846 ENSE00001020341 missense_variant 7.661151 0.99576 0.98612 0.706298 0.999368956204775 0 0.892971024523591 FALSE 1.22765e-05 ENSE00001020341_008 ENSE00001020341 008 8 59739342 59739511 - 39 81 50 G T 59739411 1287 101 GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGCTAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTATAGACCTGCAACAACAGCAAAGAGTCTTAAATTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 58826851 58826852 58826852 exon -31 0.62962962962963 AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTAGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC mutant NA NA NA NA NA 83 718 0.999503118485413 0.999946978671123 0.999725048578268 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 NA NA 0.00860024775383117 0.000533184571159251 0.983016066034042 0.995158332415773 NA 0.00456671616249521 NA FALSE NA 0.992 0.129 NA NA NA TOX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:58826852 TOX HGNC Symbol protein_coding 313790 ENSG00000198846 ENSE00001020341 synonymous_variant 0.795001 0.95711 0.4104 0.706298 0.69008628077724 0 0.892971024523591 FALSE 4.09001e-06 ENSE00001020341_011 ENSE00001020341 011 8 59739342 59739511 - 39 81 50 A C 59739438 1290 74 GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGCGAGTTGCTTCAGGTACTCCTTCTTCGCCGCCTCGGTTTTCTTTTTATAGACCTGCAACAACAGCAAAGAGTCTTAAATTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 58826878 58826879 58826879 exon 24 0.296296296296296 AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCGGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC mutant NA NA NA NA NA 169 199 1 0.905233402310941 0.95261670115547 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 NA NA 0.00909712926841788 -0.0941803917890234 0.983016066034042 0.995158332415773 NA -0.0425416312603027 NA FALSE NA 0.997 0.594 rs56215946 synonymous_variant LOW TOX HGNC 18988 ENST00000361421 6/9 rs56215946 1 C:0.0262 C:0.0023 C:0.0605 NA C:0.001 C:0.0686 C:0.0164 C:0.0113 C:0.0762 CAG A,C 0.053 8:58826879 TOX HGNC Symbol protein_coding 313790 ENSG00000198846 ENSE00001020341 synonymous_variant 0.515309 0.9801 0.85194 0.706298 0.746369657505459 0 0.892971024523591 FALSE 0.0532328 ENSE00001020341_014 ENSE00001020341 014 8 59739342 59739511 - 39 81 50 A G 59739456 1293 56 GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGCGAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTGTAGACCTGCAACAACAGCAAAGAGTCTTAAATTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 58826896 58826897 58826897 exon 6 0.0740740740740741 AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTACAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC mutant NA NA NA NA NA 85 134 0.993018356965895 1 0.996509178482947 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 NA NA 0.00211548623431257 0.000586205900035885 0.983016066034042 0.995158332415773 NA 0.00135084606717423 NA FALSE NA 1 3.446 . synonymous_variant LOW TOX HGNC 18988 ENST00000361421 6/9 rs370108565&COSM1457665 1 NA G:0.0002 G:0 TAT A,G 8.237e-06 8:58826897 TOX HGNC Symbol protein_coding 313790 ENSG00000198846 ENSE00001020341 synonymous_variant 0.232459 0.9819 0.66547 0.706298 0.537593069833311 0 0.892971024523591 FALSE 4.09984e-06 ENSE00001020341_018 ENSE00001020341 018 8 59739342 59739511 - 39 81 50 A G 59739475 1297 37 GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGCGAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTATAGACCTGCAACAACAGCGAAGAGTCTTAAATTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 58826915 58826916 58826916 upstr_intron -14 -0.26 AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTCGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC mutant NA NA NA NA NA 69 60 1 1 1 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 NA NA 0.00909712926841788 0.000586205900035885 0.983016066034042 0.995158332415773 NA 0.00484166758422688 NA FALSE NA 1 4.131 . intron_variant MODIFIER TOX HGNC 18988 ENST00000361421 5/8 1 NA CAA A,G 8.239e-06 8:58826916 TOX HGNC Symbol protein_coding 313790 ENSG00000198846 ENSE00001020341 intron_variant 1.00116 0.98279 0.94991 0.080785 0.611226564776495 0.478024 0.892971024523591 FALSE NA ENSE00001020341_019 ENSE00001020341 019 8 59739342 59739511 - 39 81 50 G C 59739478 1298 34 GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGCGAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTATAGACCTGCAACAACAGCAAACAGTCTTAAATTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 58826918 58826919 58826919 upstr_intron -17 -0.32 AACAAAAGCAAATGCACTTTCTAATTTAAGACTGTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC mutant NA NA NA NA NA 262 637 1 0.999940234026363 0.999970117013182 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 NA NA 0.00909712926841788 0.000526439926399003 0.983016066034042 0.995158332415773 NA 0.00481178459740844 NA FALSE NA 1 2.197 . intron_variant MODIFIER TOX HGNC 18988 ENST00000361421 5/8 1 NA AGA G,C 8.238e-06 8:58826919 TOX HGNC Symbol protein_coding 313790 ENSG00000198846 ENSE00001020341 intron_variant -0.13 0.92432 0.95751 0.080785 0.45899584691966 0.451348 0.892971024523591 FALSE 4.18568e-06 ENSE00001020341_020 ENSE00001020341 020 8 59739342 59739511 - 39 81 50 A G 59739487 1299 25 GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGCGAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTATAGACCTGCAACAACAGCAAAGAGTCTTAAGTTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 58826927 58826928 58826928 upstr_intron -26 -0.5 AACAAAAGCAAATGCACTTTCTAACTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC mutant NA NA NA NA NA 21 16 1 1 1 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 NA NA 0.00909712926841788 0.000586205900035885 0.983016066034042 0.995158332415773 NA 0.00484166758422688 NA FALSE NA 1 6.038 . intron_variant MODIFIER TOX HGNC 18988 ENST00000361421 5/8 1 NA AAT A,G 1.648e-05 8:58826928 TOX HGNC Symbol protein_coding 313790 ENSG00000198846 ENSE00001020341 intron_variant 2.711159 0.99527 0.98801 0.080785 0.779883876460435 0.976078 0.892971024523591 FALSE 8.49639e-06 ENSE00001020341_021 ENSE00001020341 021 8 59739342 59739511 - 39 81 50 G C 59739491 1300 21 GGCCACAATCCTTCACAATATCACACAACTGCACGTTACCTTGGATACAAGGCTGGCTCTGTATGCTGCGAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTATAGACCTGCAACAACAGCAAAGAGTCTTAAATTACAAAGTGCATTTGCTTTTGTT 58826782 58826952 58826931 58826932 58826932 upstr_intron -30 -0.58 AACAAAAGCAAATGCACTTTGTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC mutant NA NA NA NA NA 58 164 0.86279073518953 0.98667238164763 0.92473155841858 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 NA NA -0.128112135542052 -0.0127414124523336 0.983016066034042 0.995158332415773 NA -0.0704267739971929 NA FALSE NA 1 2.641 . intron_variant MODIFIER TOX HGNC 18988 ENST00000361421 5/8 1 NA AGA G,C 8.24e-06 8:58826932 TOX HGNC Symbol protein_coding 313790 ENSG00000198846 ENSE00001020341 intron_variant 2.253875 0.98224 0.94399 0.080785 0.637385035109075 0.901222 0.892971024523591 FALSE 4.26247e-06 ENSE00001020341_BRK ENSE00001020341 BRK 8 59739342 59739511 - 39 81 50 A,G; T,T NA NA NA GGCCACAATCCTTCACAATATCACACAACTGCACGTTGGCTTGGATACAAGGCTGGCTCTGTATGCTGCGAGTTGCTTCAGGTACTCCTTCTTCGCAGCCTCGGTTTTCTTTTTATAGACAAGCAACAACAGCAAAGAGTCTTAAATTAGAAAGTGCATTTGCTTTTGTT 58826782 58826952 NA NA NA NA NA NA AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCTTGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGCCAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC AACAAAAGCAAATGCACTTTCTAATTTAAGACTCTTTGCTGTTGTTGCAGGTCTATAAAAAGAAAACCGAGGCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGGTAACGTGCAGTTGTGTGATATTGTGAAGGATTGTGGCC control 221 70 0 0 0 NA NA NA NA NA 0.968349786285755 0.99768234578233 0.990902870731582 0.999413794099964 -0.968349786285755 -0.99768234578233 NA NA 0.983016066034042 0.995158332415773 -0.983016066034042 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOX NA NA NA ENSG00000198846 ENSE00001020341 NA NA NA NA NA NA NA 0.892971024523591 FALSE NA ENSE00001020902_000 ENSE00001020902 000 1 115601474 115601643 - 30 99 41 NA NA NA NA NA TGATTTTAAGGAAGAAGTGAAGTTACTCACTGTTGAGTGGAAGGTGATGAGTGTCCCATTGCCTTTTCCCCTGTCTTTAAGGTAATCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATACAAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 NA NA NA NA NA NA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA natural 26 30 0.990830597944481 0.984230683945618 0.98753064094505 4764 3060 0.993075239405551 0.997643741298745 0.995359490352148 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 0 0 0 0 0.98753064094505 0.995359490352148 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN2 NA NA NA ENSG00000134198 ENSE00001020902 NA NA NA NA NA NA NA 0.000100586967317338 FALSE NA ENSE00001020902_001 ENSE00001020902 001 1 115601474 115601643 - 30 99 41 A T 115601493 3177 151 TGATTTTAAGGAAGAAGTGTAGTTACTCACTGTTGAGTGGAAGGTGATGAGTGTCCCATTGCCTTTTCCCCTGTCTTTAAGGTAATCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATACAAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 115058871 115058872 115058872 downstr_intron 11 1.37931034482759 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTACACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 80 502 1 0.999314775018697 0.999657387509348 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00692476059444869 0.0016710337199517 0.98753064094505 0.995359490352148 NA 0.00429789715720019 NA FALSE NA 0 -0.283 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA GAA A,T 8.236e-06 1:115058872 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 intron_variant 0.43761 0.21504 0.05458 0.053691 0.736260370717018 0.113957 0.000100586967317338 FALSE 4.06385e-06 ENSE00001020902_002 ENSE00001020902 002 1 115601474 115601643 - 30 99 41 G T 115601495 3178 149 TGATTTTAAGGAAGAAGTGAATTTACTCACTGTTGAGTGGAAGGTGATGAGTGTCCCATTGCCTTTTCCCCTGTCTTTAAGGTAATCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATACAAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 115058873 115058874 115058874 downstr_intron 9 1.31034482758621 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAAATTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 774 317 0.997615581296028 1 0.998807790648014 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00454034189047625 0.00235625870125489 0.98753064094505 0.995359490352148 NA 0.00344830029586557 NA FALSE NA 0.036 1.31 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 rs370833746 1 NA T:0.0007 T:0 AGT G,T 3.295e-05 1:115058874 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 intron_variant 0.549478 0.27731 0.17595 0.053691 0.564324688015194 0.789026 0.000100586967317338 FALSE 1.62517e-05 ENSE00001020902_003 ENSE00001020902 003 1 115601474 115601643 - 30 99 41 T C 115601496 3179 148 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAGCTTCACTTCTTCCTTAAAATCA 115058852 115059022 115058874 115058875 115058875 downstr_intron 8 1.27586206896552 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAGCTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 191 1551 0.988541736408068 0.999012442449666 0.993777089428867 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA -0.00453350299748312 0.00136870115092103 0.98753064094505 0.995359490352148 NA -0.00158240092328105 NA FALSE NA 0.013 -0.26 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA GTT T,C 8.236e-06 1:115058875 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 splice_region_variant 0.182746 0.24395 0.03964 0.053691 0.609337081361302 0.168359 0.000100586967317338 FALSE 4.06263e-06 ENSE00001020902_004 ENSE00001020902 004 1 115601474 115601643 - 30 99 41 T C 115601504 3180 140 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACGGTGAGTAACTTCACTTCTTCCTTAAAATCA 115058852 115059022 115058882 115058883 115058883 exon -1 1 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACGGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 380 519 1 0.999695153439048 0.999847576719524 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00692476059444869 0.00205141214030269 0.98753064094505 0.995359490352148 NA 0.00448808636737569 NA FALSE NA 0.936 -0.241 rs140691516 upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 rs140691516 1 C:0.0020 C:0.0068 C:0.0014 NA C:0 C:0 C:0 C:0.0023 C:0.0001 CTG T,C 0.0003047 1:115058883 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 splice_region_variant -0.119678 0.36749 0.39946 0.706298 0.388616954125415 0 0.000100586967317338 FALSE 0.000272121 ENSE00001020902_005 ENSE00001020902 005 1 115601474 115601643 - 30 99 41 T C 115601506 3181 138 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAGCAGTGAGTAACTTCACTTCTTCCTTAAAATCA 115058852 115059022 115058884 115058885 115058885 exon -3 0.97979797979798 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAGCAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 3095 285 0.978188170821023 0.96932426949179 0.973756220156407 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA -0.0148870685845285 -0.0283194718069547 0.98753064094505 0.995359490352148 NA -0.0216032701957416 NA FALSE NA 0.866 -0.131 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA GTT T,C 8.236e-06 1:115058885 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 missense_variant -1.209035 0.28079 0.06685 0.706298 0.131191946727663 0 0.000100586967317338 FALSE 4.06164e-06 ENSE00001020902_007 ENSE00001020902 007 1 115601474 115601643 - 30 99 41 T C 115601525 3183 119 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACGCTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA 115058852 115059022 115058903 115058904 115058904 exon -22 0.787878787878788 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACGCTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 361 332 0.994156911801598 1 0.997078455900799 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.0010816723960464 0.00235625870125489 0.98753064094505 0.995359490352148 NA 0.00171896554865064 NA FALSE NA 0 -2.642 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:115058904 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 synonymous_variant -0.8237 0.18923 0.0119 0.706298 0.276404620422763 0 0.000100586967317338 FALSE 8.12249e-06 ENSE00001020902_009 ENSE00001020902 009 1 115601474 115601643 - 30 99 41 C G 115601528 3185 116 TGATTTTAAGGAAGAAGTGAAGTTACTCACTGTTGAGTGGAAGGTGATGAGTGTGCCATTGCCTTTTCCCCTGTCTTTAAGGTAATCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATACAAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 115058906 115058907 115058907 exon -25 0.757575757575758 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGCACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 2376 2069 0.998127639687185 0.996727524852744 0.997427582269964 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00505240028163323 -0.000916216446001594 0.98753064094505 0.995359490352148 NA 0.00206809191781582 NA FALSE NA 0.032 -0.227 NA NA NA TSPAN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:115058907 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 synonymous_variant 0.594087 0.91344 0.23357 0.706298 0.491186447883914 0 0.000100586967317338 FALSE 0.0691047 ENSE00001020902_011 ENSE00001020902 011 1 115601474 115601643 - 30 99 41 T C 115601540 3187 104 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGGAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA 115058852 115059022 115058918 115058919 115058919 exon -37 0.636363636363636 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGGAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 469 365 0.995528310407291 0.996483314840814 0.996005812624053 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00245307100173986 -0.00116042645793102 0.98753064094505 0.995359490352148 NA 0.00064632227190442 NA FALSE NA 0 -0.939 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA TTC T,C 8.236e-06 1:115058919 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 synonymous_variant -0.819669 0.17876 0.01452 0.706298 0.477760817623575 0 0.000100586967317338 FALSE 4.06128e-06 ENSE00001020902_012 ENSE00001020902 012 1 115601474 115601643 - 30 99 41 C T 115601543 3188 101 TGATTTTAAGGAAGAAGTGAAGTTACTCACTGTTGAGTGGAAGGTGATGAGTGTCCCATTGCCTTTTCCTCTGTCTTTAAGGTAATCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATACAAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 115058921 115058922 115058922 exon -40 0.606060606060606 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGAGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 304 25 0.991834383008142 0.993620542821393 0.992727462914767 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA -0.00124085639740945 -0.00402319847735233 0.98753064094505 0.995359490352148 NA -0.00263202743738089 NA FALSE NA 0.002 0.079 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA CCC C,T 1.647e-05 1:115058922 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 synonymous_variant 1.242107 0.2547 0.0238 0.706298 0.385938028683395 0 0.000100586967317338 FALSE 1.2184e-05 ENSE00001020902_014 ENSE00001020902 014 1 115601474 115601643 - 30 99 41 A T 115601557 3190 87 TGATTTTAAGGAAGAAGTGAAGTTACTCACTGTTGAGTGGAAGGTGATGAGTGTCCCATTGCCTTTTCCCCTGTCTTTAAGGTTATCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATACAAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 115058935 115058936 115058936 exon 46 0.464646464646465 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATAACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 354 734 0.983431710820792 0.998005094942556 0.990718402881674 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA -0.00964352858475914 0.000361353643810958 0.98753064094505 0.995359490352148 NA -0.00464108747047409 NA FALSE NA 1 5.573 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA TAA A,T 8.236e-06 1:115058936 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 missense_variant 4.230675 0.98646 0.96273 0.706298 0.98188928727484 0 0.000100586967317338 FALSE 4.06138e-06 ENSE00001020902_015 ENSE00001020902 015 1 115601474 115601643 - 30 99 41 A G 115601558 3191 86 TGATTTTAAGGAAGAAGTGAAGTTACTCACTGTTGAGTGGAAGGTGATGAGTGTCCCATTGCCTTTTCCCCTGTCTTTAAGGTAGTCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATACAAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 115058936 115058937 115058937 exon 45 0.454545454545455 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGACTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 345 2241 0.996365537954504 0.9988299810997 0.997597759527102 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.0032902985489528 0.00118623980095478 0.98753064094505 0.995359490352148 NA 0.00223826917495379 NA FALSE NA 0.98 0.619 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA AAT A,G 1.647e-05 1:115058937 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 synonymous_variant -0.231093 0.72276 0.30644 0.706298 0.438732759264488 0 0.000100586967317338 FALSE 4.06128e-06 ENSE00001020902_016 ENSE00001020902 016 1 115601474 115601643 - 30 99 41 T C 115601565 3192 79 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTGCAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA 115058852 115059022 115058943 115058944 115058944 exon 38 0.383838383838384 TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTGCAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 70 345 1 1 1 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00692476059444869 0.00235625870125489 0.98753064094505 0.995359490352148 NA 0.00464050964785179 NA FALSE NA 1 4.794 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA GTA T,C 8.236e-06 1:115058944 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 missense_variant 4.987069 0.97849 0.9333 0.706298 0.997753775397603 0 0.000100586967317338 FALSE 1.21843e-05 ENSE00001020902_020 ENSE00001020902 020 1 115601474 115601643 - 30 99 41 C T 115601614 3196 30 TGATTTTAAGGAAGAAGTGAAGTTACTCACTGTTGAGTGGAAGGTGATGAGTGTCCCATTGCCTTTTCCCCTGTCTTTAAGGTAATCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATATAAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 115058992 115058993 115058993 upstr_intron -12 -0.268292682926829 TCCCACCCAGAAGTCCTTCATTTTTCCTTATATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 88 1151 0.994249446709757 1 0.997124723354878 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00117420730420525 0.00235625870125489 0.98753064094505 0.995359490352148 NA 0.00176523300273007 NA FALSE NA 0 -0.89 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA ACA C,T 5.766e-05 1:115058993 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 intron_variant 0.038667 0.21539 0.04755 0.078448 0.397891570515802 0.0989383 0.000100586967317338 FALSE NA ENSE00001020902_021 ENSE00001020902 021 1 115601474 115601643 - 30 99 41 A G 115601615 3197 29 TGATTTTAAGGAAGAAGTGAAGTTACTCACTGTTGAGTGGAAGGTGATGAGTGTCCCATTGCCTTTTCCCCTGTCTTTAAGGTAATCATTGTAAGCCTCTTCATACATGGTCTGAACATGTCGGATAGCCTGAAGAAATACGAGGAAAAATGAAGGACTTCTGGGTGGGA 115058852 115059022 115058993 115058994 115058994 upstr_intron -13 -0.292682926829268 TCCCACCCAGAAGTCCTTCATTTTTCCTCGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 164 449 1 0.9912686860093 0.99563434300465 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00692476059444869 -0.00637505528944504 0.98753064094505 0.995359490352148 NA 0.000274852652501822 NA FALSE NA 0 -0.076 rs7523818 upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 rs7523818 1 A:0.0343 G:0.9985 G:0.964 NA G:1 G:0.8986 G:0.956 G:0.9832 G:0.909 CAA G,G 0.935 1:115058994 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 intron_variant -0.140242 0.21383 0.02114 0.078448 0.510684341746523 0.155459 0.000100586967317338 FALSE 0.934067 ENSE00001020902_022 ENSE00001020902 022 1 115601474 115601643 - 30 99 41 T C 115601632 3198 12 TCCCACCCAGAGGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA 115058852 115059022 115059010 115059011 115059011 upstr_intron -30 -0.707317073170732 TCCCACCCAGAGGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA TCCCACCCAGAAGTCCTTCATTTTTCCTTGTATTTCTTCAGGCTATCCGACATGTTCAGACCATGTATGAAGAGGCTTACAATGATTACCTTAAAGACAGGGGAAAAGGCAATGGGACACTCATCACCTTCCACTCAACAGTGAGTAACTTCACTTCTTCCTTAAAATCA mutant NA NA NA NA NA 260 307 1 0.984668188535436 0.992334094267718 0.990830597944481 0.984230683945618 0.993075239405551 0.997643741298745 NA NA 0.00692476059444869 -0.0129755527633094 0.98753064094505 0.995359490352148 NA -0.00302539608443037 NA FALSE NA 0 -1.131 . upstream_gene_variant MODIFIER TSPAN2 HGNC 20659 ENST00000491992 1 NA CTT T,C 0.0001318 1:115059011 TSPAN2 HGNC Symbol protein_coding 41489 ENSG00000134198 ENSE00001020902 intron_variant -0.306899 0.11745 0.00227 0.053691 0.266831462996207 0.0989383 0.000100586967317338 FALSE 8.27369e-05 ENSE00001021572_000 ENSE00001021572 000 7 135302300 135302469 + 50 81 39 NA NA NA NA NA CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCTAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA 135617551 135617721 NA NA NA NA NA NA CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCTAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCTAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA natural NA NA NA NA NA 1265 2021 0.845175012357285 0.750485409555867 0.797830210956576 NA NA 0.845175012357285 0.750485409555867 NA NA 0 0 NA 0.797830210956576 NA 0 NA FALSE NA NA NA NA NA NA NUP205 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP205 NA NA NA ENSG00000155561 ENSE00001021572 NA NA NA NA NA NA NA 0.999998807559353 TRUE NA ENSE00001021572_004 ENSE00001021572 004 7 135302300 135302469 + 50 81 39 T C 135302339 2672 40 CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCCAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA 135617551 135617721 135617590 135617591 135617591 upstr_intron -11 -0.2 CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCCAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCTAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA mutant NA NA NA NA NA 102 28 0.986781841669534 1 0.993390920834767 NA NA 0.845175012357285 0.750485409555867 NA NA 0.14160682931225 0.249514590444133 NA 0.797830210956576 NA 0.195560709878192 NA FALSE NA 0 -0.19 . downstream_gene_variant MODIFIER NUP205 HGNC 18658 ENST00000463247 1 NA CTA T,C 8.236e-06 7:135617591 NUP205 HGNC Symbol protein_coding 90838 ENSG00000155561 ENSE00001021572 intron_variant 1.393231 0.20212 0.00753 0.295142 0.883322100213094 0.380258 0.999998807559353 TRUE NA ENSE00001021572_016 ENSE00001021572 016 7 135302300 135302469 + 50 81 39 T C 135302426 2684 127 CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCTAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAACGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA 135617551 135617721 135617677 135617678 135617678 exon -5 0.950617283950617 CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCTAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAACGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA CTACCAGTGTCTGAAATGTCTTATTTTTCTTTCTTTTCCTAATTATCCAGCTTCTTCATAGGGTTCTTGTAGCTGAAGTAAATGCCCTTCAGGGTATGGCAGCCATAGGACAGAGACCTCTACTAATGGAGGTAAGCTCTATTGAGTATGTGTTCGTTTCAAACTTCTAA mutant NA NA NA NA NA 42 160 0.989770672364513 1 0.994885336182257 NA NA 0.845175012357285 0.750485409555867 NA NA 0.144595660007228 0.249514590444133 NA 0.797830210956576 NA 0.197055125225681 NA FALSE NA 1 7.697 . downstream_gene_variant MODIFIER NUP205 HGNC 18658 ENST00000463247 1 NA ATG T,C 3.295e-05 7:135617678 NUP205 HGNC Symbol protein_coding 90838 ENSG00000155561 ENSE00001021572 missense_variant 3.214424 0.99391 0.99037 0.706548 0.991648079494833 0 0.999998807559353 TRUE 5.28696e-05 ENSE00001023124_000 ENSE00001023124 000 5 157180964 157181133 + 48 84 38 NA NA NA NA NA ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 NA NA NA NA NA NA ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT natural NA NA NA NA NA 3789 4580 0.81219066802569 0.997586397234097 0.904888532629893 NA NA 0.81219066802569 0.997586397234097 NA NA 0 0 NA 0.904888532629893 NA 0 NA FALSE NA NA NA NA NA NA LSM11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LSM11 NA NA NA ENSG00000155858 ENSE00001023124 NA NA NA NA NA NA NA 0.490844531335381 FALSE NA ENSE00001023124_001 ENSE00001023124 001 5 157180964 157181133 + 48 84 38 T G 157180977 2058 14 ATAATTTTAATTCGGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157753968 157753969 157753969 upstr_intron -35 -0.708333333333333 ATAATTTTAATTCGGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 40 13 0.973656785140889 1 0.986828392570445 NA NA 0.81219066802569 0.997586397234097 NA NA 0.161466117115199 0.0024136027659033 NA 0.904888532629893 NA 0.0819398599405514 NA FALSE NA 0 -0.041 . intron_variant MODIFIER LSM11 HGNC 30860 ENST00000286307 2/3 rs543601105 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CTG T 8.241e-06 5:157753969 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 intron_variant 0.286261 0.29305 0.11602 0.062308 0.540049573369418 0.0448725 0.490844531335381 FALSE 6.76151e-06 ENSE00001023124_002 ENSE00001023124 002 5 157180964 157181133 + 48 84 38 T C 157180979 2059 16 ATAATTTTAATTCTGCCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157753970 157753971 157753971 upstr_intron -33 -0.666666666666667 ATAATTTTAATTCTGCCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 139 780 0.977066662405248 0.969547361812217 0.973307012108732 NA NA 0.81219066802569 0.997586397234097 NA NA 0.164875994379558 -0.0280390354218801 NA 0.904888532629893 NA 0.0684184794788389 NA FALSE NA 0 -0.155 . intron_variant MODIFIER LSM11 HGNC 30860 ENST00000286307 2/3 1 NA GTC T 9.064e-05 5:157753971 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 intron_variant 0.15188 0.20795 0.00194 0.062308 0.507503407776509 0.0448725 0.490844531335381 FALSE 5.90404e-05 ENSE00001023124_003 ENSE00001023124 003 5 157180964 157181133 + 48 84 38 C G 157180980 2060 17 ATAATTTTAATTCTGTGTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157753971 157753972 157753972 upstr_intron -32 -0.645833333333333 ATAATTTTAATTCTGTGTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 1392 1039 0.938252539945486 0.9494955625453 0.943874051245393 NA NA 0.81219066802569 0.997586397234097 NA NA 0.126061871919796 -0.048090834688797 NA 0.904888532629893 NA 0.0389855186154993 NA FALSE NA 0 -0.649 . intron_variant MODIFIER LSM11 HGNC 30860 ENST00000286307 2/3 1 NA TCT C 8.239e-06 5:157753972 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 intron_variant 0.07032 0.24356 0.13577 0.062308 0.506127035390137 0.0448725 0.490844531335381 FALSE NA ENSE00001023124_004 ENSE00001023124 004 5 157180964 157181133 + 48 84 38 C T 157180992 2061 29 ATAATTTTAATTCTGTCTAATGTTTTTCTTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157753983 157753984 157753984 upstr_intron -20 -0.395833333333333 ATAATTTTAATTCTGTCTAATGTTTTTCTTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 1625 541 0.859917704600394 0.998005684457993 0.928961694529194 NA NA 0.81219066802569 0.997586397234097 NA NA 0.0477270365747043 0.000419287223895948 NA 0.904888532629893 NA 0.0240731618993001 NA FALSE NA 0 -0.61 . intron_variant MODIFIER LSM11 HGNC 30860 ENST00000286307 2/3 1 NA CCT C 8.237e-06 5:157753984 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 intron_variant 0.089801 0.27689 0.03686 0.162113 0.537258388180639 0.184772 0.490844531335381 FALSE 6.0865e-06 ENSE00001023124_005 ENSE00001023124 005 5 157180964 157181133 + 48 84 38 T C 157180996 2062 33 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTCGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157753987 157753988 157753988 upstr_intron -16 -0.3125 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTCGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 832 463 0.969437731372703 0.967616984245157 0.96852735780893 NA NA 0.81219066802569 0.997586397234097 NA NA 0.157247063347013 -0.0299694129889393 NA 0.904888532629893 NA 0.0636388251790367 NA FALSE NA 0.933 0.897 . intron_variant MODIFIER LSM11 HGNC 30860 ENST00000286307 2/3 1 NA TTG T 8.237e-06 5:157753988 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 intron_variant 0.36576 0.37216 0.74665 0.162113 0.722221138628295 0.223515 0.490844531335381 FALSE NA ENSE00001023124_006 ENSE00001023124 006 5 157180964 157181133 + 48 84 38 G A 157181002 2063 39 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTATTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157753993 157753994 157753994 upstr_intron -10 -0.1875 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTATTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 344 102 0.988055514700703 0.981209945564533 0.984632730132618 NA NA 0.81219066802569 0.997586397234097 NA NA 0.175864846675013 -0.016376451669564 NA 0.904888532629893 NA 0.0797441975027243 NA FALSE NA 0.078 -0.334 . intron_variant MODIFIER LSM11 HGNC 30860 ENST00000286307 2/3 1 NA TGT G 8.237e-06 5:157753994 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 intron_variant -0.060131 0.17507 0.13424 0.156188 0.538709215266288 0.171156 0.490844531335381 FALSE NA ENSE00001023124_007 ENSE00001023124 007 5 157180964 157181133 + 48 84 38 C T 157181015 2064 52 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCATTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754006 157754007 157754007 exon 4 0.0476190476190476 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCATTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 362 85 1 0.991511569493046 0.995755784746523 NA NA 0.81219066802569 0.997586397234097 NA NA 0.18780933197431 -0.00607482774105039 NA 0.904888532629893 NA 0.0908672521166298 NA FALSE NA 1 2.451 . missense_variant MODERATE LSM11 HGNC 30860 ENST00000286307 3/4 1 deleterious(0.01) possibly_damaging(0.833) NA ACT C 8.236e-06 5:157754007 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 missense_variant 6.538886 0.98621 0.93734 0.615465 0.99903525650665 0 0.490844531335381 FALSE 1.04148e-05 ENSE00001023124_008 ENSE00001023124 008 5 157180964 157181133 + 48 84 38 C T 157181019 2065 56 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTATTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754010 157754011 157754011 exon 8 0.0952380952380952 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTATTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 58 991 0.98407979443603 0.992057615446849 0.98806870494144 NA NA 0.81219066802569 0.997586397234097 NA NA 0.17188912641034 -0.00552878178724758 NA 0.904888532629893 NA 0.0831801723115463 NA FALSE NA 1 4.535 . missense_variant MODERATE LSM11 HGNC 30860 ENST00000286307 3/4 rs374257537 1 tolerated(0.11) possibly_damaging(0.568) NA T:0 T:0.0001 ACT . 8.236e-06 5:157754011 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 missense_variant 4.887813 0.98864 0.91203 0.615465 0.997471102684647 0 0.490844531335381 FALSE 5.13252e-06 ENSE00001023124_009 ENSE00001023124 009 5 157180964 157181133 + 48 84 38 C T 157181039 2066 76 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACTGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754030 157754031 157754031 exon 28 0.333333333333333 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACTGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 34 25 0.941657717265021 0.810010917201703 0.875834317233362 NA NA 0.81219066802569 0.997586397234097 NA NA 0.129467049239331 -0.187575480032393 NA 0.904888532629893 NA -0.029054215396531 NA FALSE NA 1 3.488 . stop_gained HIGH LSM11 HGNC 30860 ENST00000286307 3/4 1 NA HC CCG C 8.237e-06 5:157754031 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 stop_gained 12.673294 0.98381 0.93596 0.615465 0.997672846557436 0 0.490844531335381 FALSE 9.2693e-06 ENSE00001023124_010 ENSE00001023124 010 5 157180964 157181133 + 48 84 38 G A 157181040 2067 77 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCAAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754031 157754032 157754032 exon 29 0.345238095238095 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCAAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 110 186 0.845276710556002 0.882198153675312 0.863737432115657 NA NA 0.81219066802569 0.997586397234097 NA NA 0.0330860425303118 -0.115388243558785 NA 0.904888532629893 NA -0.0411511005142365 NA FALSE NA 1 9.525 . missense_variant MODERATE LSM11 HGNC 30860 ENST00000286307 3/4 1 deleterious(0) possibly_damaging(0.602) NA CGA G 3.295e-05 5:157754032 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 missense_variant 7.570868 0.99635 0.99562 0.615465 0.999587746101842 0 0.490844531335381 FALSE 1.85598e-05 ENSE00001023124_011 ENSE00001023124 011 5 157180964 157181133 + 48 84 38 A G 157181044 2068 81 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAGCCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754035 157754036 157754036 exon 33 0.392857142857143 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAGCCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 359 46 0.995322465794285 0.967736473925104 0.981529469859694 NA NA 0.81219066802569 0.997586397234097 NA NA 0.183131797768595 -0.0298499233089929 NA 0.904888532629893 NA 0.0766409372298008 NA FALSE NA 0.999 0.491 . synonymous_variant LOW LSM11 HGNC 30860 ENST00000286307 3/4 1 NA AAC A 8.237e-06 5:157754036 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 synonymous_variant 0.657051 0.9704 0.57495 0.615465 0.664633196382749 0 0.490844531335381 FALSE 4.62732e-06 ENSE00001023124_012 ENSE00001023124 012 5 157180964 157181133 + 48 84 38 C G 157181061 2069 98 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGGATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754052 157754053 157754053 exon -35 0.595238095238095 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGGATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 285 167 0.88496733052962 1 0.94248366526481 NA NA 0.81219066802569 0.997586397234097 NA NA 0.07277666250393 0.0024136027659033 NA 0.904888532629893 NA 0.0375951326349167 NA FALSE NA 1 7.558 . missense_variant MODERATE LSM11 HGNC 30860 ENST00000286307 3/4 rs373103719 1 deleterious(0.01) possibly_damaging(0.51) NA G:0.0002 G:0 GCA C 8.237e-06 5:157754053 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 missense_variant 6.600221 0.99646 0.9947 0.615465 0.99806273666142 0 0.490844531335381 FALSE 4.59386e-06 ENSE00001023124_013 ENSE00001023124 013 5 157180964 157181133 + 48 84 38 A G 157181062 2070 99 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCGTATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754053 157754054 157754054 exon -34 0.607142857142857 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCGTATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 1276 536 0.971576779883976 0.9996336335828 0.985605206733388 NA NA 0.81219066802569 0.997586397234097 NA NA 0.159386111858286 0.00204723634870363 NA 0.904888532629893 NA 0.080716674103495 NA FALSE NA 0 -4.973 . synonymous_variant LOW LSM11 HGNC 30860 ENST00000286307 3/4 1 NA CAT A 8.237e-06 5:157754054 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 synonymous_variant 0.891091 0.54474 0.04991 0.615465 0.513775539403959 0 0.490844531335381 FALSE 4.59137e-06 ENSE00001023124_014 ENSE00001023124 014 5 157180964 157181133 + 48 84 38 C T 157181069 2071 106 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAATGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754060 157754061 157754061 exon -27 0.69047619047619 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAATGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 130 87 0.973184915255188 0.99123878134234 0.982211848298764 NA NA 0.81219066802569 0.997586397234097 NA NA 0.160994247229498 -0.00634761589175648 NA 0.904888532629893 NA 0.0773233156688709 NA FALSE NA 0.999 3.029 . missense_variant MODERATE LSM11 HGNC 30860 ENST00000286307 3/4 COSM3853243 1 deleterious(0.03) probably_damaging(0.958) NA ACG C 3.295e-05 5:157754061 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 missense_variant 7.05215 0.98669 0.96428 0.615465 0.999274383509808 0 0.490844531335381 FALSE 2.30585e-05 ENSE00001023124_017 ENSE00001023124 017 5 157180964 157181133 + 48 84 38 T G 157181074 2074 111 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGAGTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754065 157754066 157754066 exon -22 0.75 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGAGTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 76 775 0 0 0 NA NA 0.81219066802569 0.997586397234097 NA NA -0.81219066802569 -0.997586397234097 NA 0.904888532629893 NA -0.904888532629893 NA TRUE NA 0.994 0.056 . missense_variant MODERATE LSM11 HGNC 30860 ENST00000286307 3/4 1 tolerated(1) benign(0.014) NA ATT T 1.647e-05 5:157754066 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 missense_variant 0.690666 0.96874 0.76297 0.615465 0.644391547963575 0 0.490844531335381 FALSE 9.19616e-06 ENSE00001023124_018 ENSE00001023124 018 5 157180964 157181133 + 48 84 38 C A 157181081 2075 118 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCAATGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754072 157754073 157754073 exon -15 0.833333333333333 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCAATGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 140 153 1 1 1 NA NA 0.81219066802569 0.997586397234097 NA NA 0.18780933197431 0.0024136027659033 NA 0.904888532629893 NA 0.0951114673701066 NA FALSE NA 0.004 -0.067 . missense_variant MODERATE LSM11 HGNC 30860 ENST00000286307 3/4 1 deleterious(0.02) benign(0.179) NA ACT C 8.237e-06 5:157754073 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 missense_variant 2.330579 0.29314 0.41622 0.615465 0.981836931568587 0 0.490844531335381 FALSE NA ENSE00001023124_019 ENSE00001023124 019 5 157180964 157181133 + 48 84 38 G A 157181083 2076 120 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTAACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754074 157754075 157754075 exon -13 0.857142857142857 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTAACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 457 152 0.954753336960148 0.959094871175654 0.956924104067901 NA NA 0.81219066802569 0.997586397234097 NA NA 0.142562668934457 -0.0384915260584427 NA 0.904888532629893 NA 0.0520355714380074 NA FALSE NA 1 1.405 . synonymous_variant LOW LSM11 HGNC 30860 ENST00000286307 3/4 1 NA TGA G 8.237e-05 5:157754075 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 synonymous_variant 1.255849 0.97373 0.89151 0.615465 0.780878231787635 0 0.490844531335381 FALSE 5.99637e-05 ENSE00001023124_020 ENSE00001023124 020 5 157180964 157181133 + 48 84 38 A G 157181098 2077 135 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTGGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 157754089 157754090 157754090 downstr_intron 3 1.08108108108108 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTGGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 369 232 0.806194345542456 0.843694471727804 0.82494440863513 NA NA 0.81219066802569 0.997586397234097 NA NA -0.00599632248323434 -0.153891925506293 NA 0.904888532629893 NA -0.0799441239947636 NA FALSE NA 1 6.658 . splice_region_variant&intron_variant LOW LSM11 HGNC 30860 ENST00000286307 3/3 1 NA TAG A 8.238e-06 5:157754090 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 splice_region_variant 2.35905 0.99506 0.99413 0.062308 0.976731761002158 0.981565 0.490844531335381 FALSE NA ENSE00001023124_021 ENSE00001023124 021 5 157180964 157181133 + 48 84 38 C A 157181119 2078 156 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCATGAGTAGCCATCAT 157753955 157754125 157754110 157754111 157754111 downstr_intron 24 1.64864864864865 ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCATGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT mutant NA NA NA NA NA 1864 2947 0.974821401791526 0.996769610450794 0.98579550612116 NA NA 0.81219066802569 0.997586397234097 NA NA 0.162630733765836 -0.000816786783302881 NA 0.904888532629893 NA 0.0809069734912665 NA FALSE NA 0 0.002 . intron_variant MODIFIER LSM11 HGNC 30860 ENST00000286307 3/3 1 NA CCT C 8.239e-06 5:157754111 LSM11 HGNC Symbol protein_coding 17014 ENSG00000155858 ENSE00001023124 intron_variant 2.003339 0.26598 0.08386 0.062308 0.77777103203385 0.14833 0.490844531335381 FALSE NA ENSE00001023124_BRK ENSE00001023124 BRK 5 157180964 157181133 + 48 84 38 A,G; T,T NA NA NA ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTTTGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGCCAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT 157753955 157754125 NA NA NA NA NA NA ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTTTGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGCCAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT ATAATTTTAATTCTGTCTAATGTTTTTCCTTTTGGGCTGTTCCTCTAGGCACTTACTGATGTGGATGAGACCTACCGAAAACCTGTCCTAGGCAAAGCATATGAACGGGATTCTTCACTGACTCTCACTAGGGTAGGCAGTTTTCCCCTGACCTCCTGAGTAGCCATCAT control NA NA NA NA NA 630 60 0.0819014598854754 0.00538216565637389 0.0436418127709246 NA NA 0.81219066802569 0.997586397234097 NA NA -0.730289208140215 -0.992204231577723 NA 0.904888532629893 NA -0.861246719858969 NA TRUE NA NA NA NA NA NA LSM11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LSM11 NA NA NA ENSG00000155858 ENSE00001023124 NA NA NA NA NA NA NA 0.490844531335381 FALSE NA ENSE00001023460_000 ENSE00001023460 000 8 134256536 134256705 - 62 36 72 NA NA NA NA NA CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 NA NA NA NA NA NA CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT natural 35 21 0.995887045543691 0.998819821940451 0.997353433742071 1872 1175 0.854149871149578 0.993976696038869 0.924063283594224 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 0 0 0 0 0.997353433742071 0.924063283594224 0 0 0 FALSE FALSE NA NA NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG1 NA NA NA ENSG00000104419 ENSE00003568157 NA NA NA NA NA NA NA 0.0538232412513876 FALSE NA ENSE00001023460_001 ENSE00001023460 001 8 134256536 134256705 - 62 36 72 C A 134256548 2037 158 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGTTGGAGTGCATGT 133244292 133244462 133244304 133244305 133244305 downstr_intron 50 1.81967213114754 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGTTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 246 14 0.947798372361283 1 0.973899186180641 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.0936485012117049 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0498359025864178 NA FALSE NA 0 0.261 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 14/15 1 NA ACC C,A 8.236e-06 8:133244305 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 intron_variant 0.762418 0.18551 0.20251 0.218109 0.841413373151588 0.0935922 0.0538232412513876 FALSE 4.07867e-06 ENSE00001023460_002 ENSE00001023460 002 8 134256536 134256705 - 62 36 72 C T 134256550 2038 156 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTAGGTGGAGTGCATGT 133244292 133244462 133244306 133244307 133244307 downstr_intron 48 1.78688524590164 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTAGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 3400 887 0.897304474137295 0.809805299280642 0.853554886708969 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.0431546029877178 -0.184171396758227 0.997353433742071 0.924063283594224 NA -0.0705083968852547 NA FALSE NA 0 -1.166 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 14/15 1 NA CCA C,T 8.236e-06 8:133244307 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 intron_variant 0.656665 0.16154 0.02272 0.218109 0.812614669536531 0.0935922 0.0538232412513876 FALSE 4.07701e-06 ENSE00001023460_004 ENSE00001023460 004 8 134256536 134256705 - 62 36 72 G T 134256559 2040 147 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGATTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244315 133244316 133244316 downstr_intron 39 1.63934426229508 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGATTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 375 432 0.99989020619641 0.996855859208819 0.998373032702614 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145740335046832 0.00287916316994963 0.997353433742071 0.924063283594224 NA 0.0743097491083908 NA FALSE NA 0.014 1.528 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:133244316 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 intron_variant 0.061894 0.19797 0.22145 0.218109 0.651392595925606 0.0749492 0.0538232412513876 FALSE 0.114298 ENSE00001023460_005 ENSE00001023460 005 8 134256536 134256705 - 62 36 72 G A 134256559 2041 147 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGTTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244315 133244316 133244316 downstr_intron 39 1.63934426229508 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGTTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 239 79 0.855891245488892 0.990289262587661 0.923090254038277 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.00174137433931432 -0.00368743345120814 0.997353433742071 0.924063283594224 NA -0.000973029555946914 NA FALSE NA 0.014 1.528 NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG1 NA NA NA ENSG00000104419 ENSE00003568157 intron_variant 0.334246 0.18633 0.17458 0.218109 0.572287962981092 0.0749492 0.0538232412513876 FALSE 4.07465e-06 ENSE00001023460_008 ENSE00001023460 008 8 134256536 134256705 - 62 36 72 C T 134256566 2044 140 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAACTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244322 133244323 133244323 downstr_intron 32 1.52459016393443 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAACTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 16 1457 1 0.996036344660756 0.998018172330378 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00205964862188646 0.997353433742071 0.924063283594224 NA 0.0739548887361544 NA FALSE NA 0 -0.05 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 14/15 1 NA GCT C,T 8.236e-06 8:133244323 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 intron_variant 0.172012 0.15418 0.04815 0.218109 0.639422085784391 0.075543 0.0538232412513876 FALSE 4.06845e-06 ENSE00001023460_009 ENSE00001023460 009 8 134256536 134256705 - 62 36 72 T A 134256567 2045 139 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACTGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244323 133244324 133244324 downstr_intron 31 1.50819672131148 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACTGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 793 286 1 0.995061155448586 0.997530577724293 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00108445940971713 0.997353433742071 0.924063283594224 NA 0.0734672941300697 NA FALSE NA 0 -0.044 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 14/15 1 NA CTG T,A 8.236e-06 8:133244324 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 intron_variant 0.506928 0.15891 0.0998 0.218109 0.644351065731882 0.0747914 0.0538232412513876 FALSE 4.06742e-06 ENSE00001023460_010 ENSE00001023460 010 8 134256536 134256705 - 62 36 72 C T 134256593 2046 113 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAATGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244349 133244350 133244350 downstr_intron 5 1.08196721311475 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAATGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 26 236 1 0.975001002546013 0.987500501273006 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 -0.0189756934928567 0.997353433742071 0.924063283594224 NA 0.0634372176787829 NA FALSE NA 1 4.357 rs150968034 splice_region_variant&intron_variant LOW NDRG1 HGNC 7679 ENST00000414097 14/15 rs150968034 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.002 T:0 ACT C,T 0.0001647 8:133244350 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 splice_region_variant 2.568056 0.96158 0.75085 0.218109 0.974530120427389 0.981475 0.0538232412513876 FALSE 8.94004e-05 ENSE00001023460_012 ENSE00001023460 012 8 134256536 134256705 - 62 36 72 C T 134256610 2048 96 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCACAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244366 133244367 133244367 exon -13 0.666666666666667 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCACAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 405 57 0.991956839729407 1 0.995978419864704 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.13780696857983 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0719151362704802 NA FALSE NA 0 -5.224 rs2233340 synonymous_variant LOW NDRG1 HGNC 7679 ENST00000414097 14/16 rs2233340 1 T:0.0056 T:0.0212 T:0 NA T:0 T:0 T:0 T:0.0102 T:0.0001 GCG C,T 0.00126 8:133244367 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 synonymous_variant 1.473684 0.25384 0.05521 0.706548 0.835799779889213 0 0.0538232412513876 FALSE 0.00112184 ENSE00001023460_013 ENSE00001023460 013 8 134256536 134256705 - 62 36 72 G A 134256611 2049 95 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCTGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244367 133244368 133244368 exon -14 0.638888888888889 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCTGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 338 351 1 1 1 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0759367164057765 NA FALSE NA 1 8.304 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000414097 14/16 1 deleterious(0.02) probably_damaging(1) NA CGG G,A 1.647e-05 8:133244368 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 missense_variant 5.224163 0.96431 0.98001 0.706548 0.996857053531242 0 0.0538232412513876 FALSE 8.1275e-06 ENSE00001023460_017 ENSE00001023460 017 8 134256536 134256705 - 62 36 72 A G 134256622 2053 84 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGCGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244378 133244379 133244379 exon 12 0.333333333333333 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGCGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 876 56 0.997668783447749 1 0.998834391723875 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.143518912298172 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0747711081296512 NA FALSE NA 0.872 0.021 . synonymous_variant LOW NDRG1 HGNC 7679 ENST00000414097 14/16 1 NA CAC A,G 8.236e-06 8:133244379 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 synonymous_variant -0.102184 0.8331 0.61737 0.706548 0.68358378824619 0 0.0538232412513876 FALSE 1.62512e-05 ENSE00001023460_018 ENSE00001023460 018 8 134256536 134256705 - 62 36 72 T G 134256626 2054 80 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGCCTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244382 133244383 133244383 exon 8 0.222222222222222 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGCCTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 1623 204 0.998904544547878 0.997899510804268 0.998402027676073 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.1447546733983 0.00392281476539846 0.997353433742071 0.924063283594224 NA 0.0743387440818493 NA FALSE NA 1 6.732 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000414097 14/16 1 deleterious(0) probably_damaging(0.999) NA GTC T,G 8.236e-06 8:133244383 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 missense_variant 5.913322 0.95786 0.97587 0.706548 0.995787443489958 0 0.0538232412513876 FALSE 8.12519e-06 ENSE00001023460_019 ENSE00001023460 019 8 134256536 134256705 - 62 36 72 C T 134256628 2055 78 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCAGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244384 133244385 133244385 exon 6 0.166666666666667 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCAGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 313 28 1 1 1 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0759367164057765 NA FALSE NA 0.001 -1.754 rs150101908 synonymous_variant LOW NDRG1 HGNC 7679 ENST00000414097 14/16 rs150101908&COSM3645347 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 3.295e-05 8:133244385 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 synonymous_variant 2.18849 0.75394 0.14655 0.706548 0.84964874509662 0 0.0538232412513876 FALSE 5.68837e-05 ENSE00001023460_020 ENSE00001023460 020 8 134256536 134256705 - 62 36 72 G A 134256629 2056 77 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGTGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244385 133244386 133244386 exon 5 0.138888888888889 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGTGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 130 738 0.99743961403872 0.998229463461479 0.997834538750099 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.143289742889142 0.00425276742260949 0.997353433742071 0.924063283594224 NA 0.0737712551558757 NA FALSE NA 1 6.547 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000414097 14/16 1 deleterious(0) possibly_damaging(0.829) NA CGC G,A 8.236e-06 8:133244386 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 missense_variant 6.23031 0.93454 0.95624 0.706548 0.999060086868715 0 0.0538232412513876 FALSE 1.21904e-05 ENSE00001023460_021 ENSE00001023460 021 8 134256536 134256705 - 62 36 72 G A 134256638 2057 68 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTTCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244394 133244395 133244395 upstr_intron -5 -0.0555555555555556 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTTCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 196 56 1 1 1 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0759367164057765 NA FALSE NA 0.083 -0.526 . splice_region_variant&intron_variant LOW NDRG1 HGNC 7679 ENST00000414097 13/15 1 NA GGA G,A 8.236e-06 8:133244395 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 splice_region_variant 0.74219 0.24396 0.13384 0.099367 0.84866173141272 0.282071 0.0538232412513876 FALSE 4.06312e-06 ENSE00001023460_023 ENSE00001023460 023 8 134256536 134256705 - 62 36 72 G A 134256642 2059 64 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTTTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244398 133244399 133244399 upstr_intron -9 -0.111111111111111 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTTTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 102 664 1 0.999761744832213 0.999880872416106 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00578504879334363 0.997353433742071 0.924063283594224 NA 0.075817588821883 NA FALSE NA 0.352 0.318 NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:133244399 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant -0.14166 0.19779 0.07723 0.099367 0.885774997529938 0.263054 0.0538232412513876 FALSE 8.12678e-06 ENSE00001023460_024 ENSE00001023460 024 8 134256536 134256705 - 62 36 72 C T 134256650 2060 56 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAACTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244406 133244407 133244407 upstr_intron -17 -0.222222222222222 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAACTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 206 660 1 1 1 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0759367164057765 NA FALSE NA 0 -0.857 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 13/15 1 NA GCT C,T 1.647e-05 8:133244407 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant 0.275236 0.21087 0.13545 0.099367 0.828236111431345 0.111446 0.0538232412513876 FALSE 8.12929e-06 ENSE00001023460_027 ENSE00001023460 027 8 134256536 134256705 - 62 36 72 T C 134256655 2063 51 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTGACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244411 133244412 133244412 upstr_intron -22 -0.291666666666667 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTGACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 251 94 1 0.998313782914738 0.999156891457369 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00433708687586876 0.997353433742071 0.924063283594224 NA 0.0750936078631456 NA FALSE NA 0.149 -1.075 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 13/15 rs370913835 1 NA C:0 C:0.0001 TTA T,C 8.236e-06 8:133244412 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant 0.411116 0.69668 0.1072 0.099367 0.595379850845099 0.111446 0.0538232412513876 FALSE 8.13087e-06 ENSE00001023460_028 ENSE00001023460 028 8 134256536 134256705 - 62 36 72 C T 134256661 2064 45 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTAGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244417 133244418 133244418 upstr_intron -28 -0.375 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTAGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 38 79 1 0.989197774234612 0.994598887117306 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 -0.00477892180425687 0.997353433742071 0.924063283594224 NA 0.0705356035230827 NA FALSE NA 0 -0.97 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 13/15 1 NA CCA C,T 1.647e-05 8:133244418 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant 0.221278 0.20365 0.0457 0.099367 0.70435230632571 0.112193 0.0538232412513876 FALSE 8.13656e-06 ENSE00001023460_029 ENSE00001023460 029 8 134256536 134256705 - 62 36 72 A G 134256664 2065 42 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGCTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244420 133244421 133244421 upstr_intron -31 -0.416666666666667 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGCTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 539 293 0.998540224168975 1 0.999270112084488 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.144390353019398 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0752068284902642 NA FALSE NA 0 -1.557 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 13/15 1 NA AAC A,G 8.236e-06 8:133244421 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant -0.222865 0.14546 0.03984 0.099367 0.287710281249128 0.112193 0.0538232412513876 FALSE 8.1365e-06 ENSE00001023460_030 ENSE00001023460 030 8 134256536 134256705 - 62 36 72 A G 134256671 2066 35 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCCGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244427 133244428 133244428 upstr_intron -38 -0.513888888888889 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCCGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 99 140 1 0.8 0.9 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 -0.193976696038869 0.997353433742071 0.924063283594224 NA -0.0240632835942234 NA FALSE NA 0 -1.544 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 13/15 1 NA CAG A,G 8.236e-06 8:133244428 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant -0.291668 0.15417 0.03427 0.062308 0.26574057474009 0.064406 0.0538232412513876 FALSE 4.07309e-06 ENSE00001023460_031 ENSE00001023460 031 8 134256536 134256705 - 62 36 72 C A 134256673 2067 33 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGTCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244429 133244430 133244430 upstr_intron -40 -0.541666666666667 CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGTCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 48 586 1 0.999151242216277 0.999575621108139 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00517454617740787 0.997353433742071 0.924063283594224 NA 0.0755123375139151 NA FALSE NA 0 -3.369 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 13/15 1 NA GCC C,A 8.236e-06 8:133244430 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant 0.316696 0.13598 0.02044 0.062308 0.586073574705904 0.064406 0.0538232412513876 FALSE 4.07684e-06 ENSE00001023460_032 ENSE00001023460 032 8 134256536 134256705 - 62 36 72 G A 134256677 2068 29 CGGAAAAAATTCATAGAGCGCAGAGGGCTTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244433 133244434 133244434 upstr_intron -44 -0.597222222222222 CGGAAAAAATTCATAGAGCGCAGAGGGCTTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 390 159 1 1 1 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0759367164057765 NA FALSE NA 0.003 1.096 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 13/15 1 NA AGG G,A 8.236e-06 8:133244434 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant 0.2438 0.22724 0.10004 0.062308 0.593292330749719 0.064406 0.0538232412513876 FALSE 4.08901e-06 ENSE00001023460_033 ENSE00001023460 033 8 134256536 134256705 - 62 36 72 C T 134256679 2069 27 CGGAAAAAATTCATAGAGCGCAGAGGACCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244435 133244436 133244436 upstr_intron -46 -0.625 CGGAAAAAATTCATAGAGCGCAGAGGACCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 492 226 0.998125906267713 1 0.999062953133857 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.143976035118136 0.00602330396113071 0.997353433742071 0.924063283594224 NA 0.0749996695396332 NA FALSE NA 0 -1.908 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:133244436 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant 0.25403 0.12191 0.04082 0.062308 0.745234052943573 0.064406 0.0538232412513876 FALSE 0.000245359 ENSE00001023460_034 ENSE00001023460 034 8 134256536 134256705 - 62 36 72 C A 134256679 2070 27 CGGAAAAAATTCATAGAGCGCAGAGGTCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT 133244292 133244462 133244435 133244436 133244436 upstr_intron -46 -0.625 CGGAAAAAATTCATAGAGCGCAGAGGTCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT CGGAAAAAATTCATAGAGCGCAGAGGGCCTTGGCTGTGGTGTTTGGCACTAACGAGCTTCCCTCTCTCCTAGATGGCGGACTGTGGCGGCCTCCCGCAGATCTCCCAGGTGAGTGCCATGTTGGCTTTTGCATTATACAGCTGTCGCTTCCCCCTGGGTGGAGTGCATGT mutant NA NA NA NA NA 198 211 1 0.999249722426264 0.999624861213132 0.995887045543691 0.998819821940451 0.854149871149578 0.993976696038869 NA NA 0.145850128850422 0.00527302638739502 0.997353433742071 0.924063283594224 NA 0.0755615776189087 NA FALSE NA 0 -1.908 NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG1 NA NA NA ENSG00000104419 ENSE00003568157 non_coding_transcript_exon_variant 0.27194 0.13863 0.06615 0.062308 0.633339524760479 0.064406 0.0538232412513876 FALSE 8.17862e-06 ENSE00001024045_000 ENSE00001024045 000 12 57897955 57898124 + 53 75 42 NA NA NA NA NA ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 NA NA NA NA NA NA ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT natural 88 113 0.968432553088016 0.976701297002871 0.972566925045444 3820 3048 0.928207442714101 0.963809560986003 0.946008501850052 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 0 0 0 0 0.972566925045444 0.946008501850052 0 0 0 FALSE FALSE NA NA NA NA NA MARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARS NA NA NA ENSG00000166986 ENSE00003501560 NA NA NA NA NA NA NA 2.73685367110748e-12 FALSE NA ENSE00001024045_002 ENSE00001024045 002 12 57897955 57898124 + 53 75 42 A T 57897980 2213 26 ACCCCTCCCCTGGCCTGCAGGCCTGTTCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504196 57504197 57504197 upstr_intron -28 -0.509433962264151 ACCCCTCCCCTGGCCTGCAGGCCTGTTCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 240 699 1 0.860545676035827 0.930272838017913 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA 0.0717925572858991 -0.103263884950177 0.972566925045444 0.946008501850052 NA -0.0157356638321388 NA FALSE NA 0 -1.179 . intron_variant&NMD_transcript_variant MODIFIER MARS HGNC 6898 ENST00000537638 11/22 1 NA GAT A,T 8.236e-06 12:57504197 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 non_coding_transcript_exon_variant 1.416421 0.30667 0.14885 0.256867 0.895700289637763 0.10638 2.73685367110748e-12 FALSE 4.06547e-06 ENSE00001024045_005 ENSE00001024045 005 12 57897955 57898124 + 53 75 42 T C 57897995 2216 41 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAACTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504211 57504212 57504212 upstr_intron -13 -0.226415094339623 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAACTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 254 145 0.92444224552028 1 0.96222112276014 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA -0.00376519719382118 0.0361904390139965 0.972566925045444 0.946008501850052 NA 0.0162126209100877 NA FALSE NA 0.198 1.502 . intron_variant&NMD_transcript_variant MODIFIER MARS HGNC 6898 ENST00000537638 11/22 1 NA ATT T,C 3.295e-05 12:57504212 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 non_coding_transcript_exon_variant 1.059391 0.28053 0.12442 0.256867 0.798675635877232 0.129998 2.73685367110748e-12 FALSE 2.84384e-05 ENSE00001024045_016 ENSE00001024045 016 12 57897955 57898124 + 53 75 42 A G 57898034 2227 80 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCGTGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504250 57504251 57504251 exon 27 0.36 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCGTGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 131 59 1 1 1 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA 0.0717925572858991 0.0361904390139965 0.972566925045444 0.946008501850052 NA 0.0539914981499478 NA FALSE NA 0 -3.293 . synonymous_variant&NMD_transcript_variant LOW MARS HGNC 6898 ENST00000537638 12/23 1 NA CAT A,G 8.236e-06 12:57504251 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 synonymous_variant 1.013376 0.15335 0.00728 0.706548 0.487981559033757 0 2.73685367110748e-12 FALSE 1.21834e-05 ENSE00001024045_017 ENSE00001024045 017 12 57897955 57898124 + 53 75 42 T C 57898040 2228 86 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCCGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504256 57504257 57504257 exon 33 0.44 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCCGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 90 213 1 0.973882829740087 0.986941414870043 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA 0.0717925572858991 0.0100732687540833 0.972566925045444 0.946008501850052 NA 0.0409329130199912 NA FALSE NA 0.362 0.086 . synonymous_variant&NMD_transcript_variant LOW MARS HGNC 6898 ENST00000537638 12/23 1 NA CTG T,C 8.236e-06 12:57504257 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 synonymous_variant 0.07958 0.94516 0.8251 0.706548 0.496036939178246 0 2.73685367110748e-12 FALSE 4.06091e-06 ENSE00001024045_018 ENSE00001024045 018 12 57897955 57898124 + 53 75 42 T C 57898045 2229 91 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGCGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504261 57504262 57504262 exon -38 0.506666666666667 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGCGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 36 81 1 0.998042454576196 0.999021227288098 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA 0.0717925572858991 0.0342328935901923 0.972566925045444 0.946008501850052 NA 0.0530127254380457 NA FALSE NA 1 5.506 rs145115858 missense_variant&NMD_transcript_variant MODERATE MARS HGNC 6898 ENST00000537638 12/23 1 deleterious(0) benign(0.05) NA GTG T,C 8.236e-06 12:57504262 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 missense_variant 3.220961 0.98016 0.98958 0.706548 0.993164731052565 0 2.73685367110748e-12 FALSE NA ENSE00001024045_020 ENSE00001024045 020 12 57897955 57898124 + 53 75 42 C T 57898051 2231 97 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTTGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504267 57504268 57504268 exon -32 0.586666666666667 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTTGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 54 599 1 0.970925521444705 0.985462760722352 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA 0.0717925572858991 0.00711596045870111 0.972566925045444 0.946008501850052 NA 0.0394542588723001 NA FALSE NA 1 7.155 . missense_variant&NMD_transcript_variant MODERATE MARS HGNC 6898 ENST00000537638 12/23 rs562565076&COSM1363328&COSM78058 1 deleterious(0.02) benign(0.077) NA TCG C,T 4.118e-05 12:57504268 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 missense_variant 4.6655 0.99067 0.99543 0.706548 0.998621402876079 0 2.73685367110748e-12 FALSE 2.84366e-05 ENSE00001024045_021 ENSE00001024045 021 12 57897955 57898124 + 53 75 42 G A 57898052 2232 98 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCAAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504268 57504269 57504269 exon -31 0.6 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCAAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 32 179 1 1 1 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA 0.0717925572858991 0.0361904390139965 0.972566925045444 0.946008501850052 NA 0.0539914981499478 NA FALSE NA 0.995 0.371 . synonymous_variant&NMD_transcript_variant LOW MARS HGNC 6898 ENST00000537638 12/23 COSM1562514 1 NA CGA G,A 2.471e-05 12:57504269 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 synonymous_variant 0.746915 0.96926 0.83205 0.706548 0.441524055072867 0 2.73685367110748e-12 FALSE 2.03057e-05 ENSE00001024045_022 ENSE00001024045 022 12 57897955 57898124 + 53 75 42 G A 57898054 2233 100 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAACCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504270 57504271 57504271 exon -29 0.626666666666667 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAACCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 105 49 1 1 1 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA 0.0717925572858991 0.0361904390139965 0.972566925045444 0.946008501850052 NA 0.0539914981499478 NA FALSE NA 1 4.408 . missense_variant&NMD_transcript_variant MODERATE MARS HGNC 6898 ENST00000537638 12/23 1 deleterious(0) probably_damaging(0.988) NA AGC C,A 5.765e-05 12:57504271 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 missense_variant 4.059053 0.98219 0.93603 0.706548 0.989801905898346 0 2.73685367110748e-12 FALSE 6.49767e-05 ENSE00001024045_025 ENSE00001024045 025 12 57897955 57898124 + 53 75 42 C A 57898092 2236 138 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGATTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT 57504171 57504341 57504308 57504309 57504309 downstr_intron 10 1.24390243902439 ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGATTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT ACCCCTCCCCTGGCCTGCAGGCCTGATCTGTCCTCTGGAATTTTCCTTCGCAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGGTAAGTGAGCTTTTCTCTCAACCTAGTTTTCAGGAGGCCTCT mutant NA NA NA NA NA 361 282 0.997697471028017 0.999864932935625 0.998781201981821 0.968432553088016 0.976701297002871 0.928207442714101 0.963809560986003 NA NA 0.0694900283139157 0.0360553719496216 0.972566925045444 0.946008501850052 NA 0.0527727001317687 NA FALSE NA 0.002 0.301 . intron_variant&NMD_transcript_variant MODIFIER MARS HGNC 6898 ENST00000537638 12/22 1 NA GCT C,A 8.236e-06 12:57504309 MARS HGNC Symbol protein_coding 42124 ENSG00000166986 ENSE00003501560 intron_variant 0.529104 0.24194 0.14591 0.099367 0.567318382762744 0.498994 2.73685367110748e-12 FALSE 4.06246e-06 ENSE00001025746_000 ENSE00001025746 000 21 33355791 33355960 + 48 84 38 NA NA NA NA NA TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 NA NA NA NA NA NA TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG natural NA NA NA NA NA 449 754 0.985088150875239 0.997678942790107 0.991383546832673 NA NA 0.985088150875239 0.997678942790107 NA NA 0 0 NA 0.991383546832673 NA 0 NA FALSE NA NA NA NA NA NA HUNK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HUNK NA NA NA ENSG00000142149 ENSE00003547885 NA NA NA NA NA NA NA 0.997271074532227 TRUE NA ENSE00001025746_001 ENSE00001025746 001 21 33355791 33355960 + 48 84 38 C T 33355829 62 39 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTTCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983515 31983516 31983516 upstr_intron -10 -0.1875 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTTCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 660 389 0.998177582907404 1 0.999088791453702 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0130894320321656 0.00232105720989251 NA 0.991383546832673 NA 0.00770524462102906 NA FALSE NA 0 -0.659 . intron_variant MODIFIER HUNK HGNC 13326 ENST00000439107 1/4 1 NA TCC C,T 8.237e-06 21:31983516 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 intron_variant 2.216738 0.23547 0.049 0.053691 0.866434476359125 0.313168 0.997271074532227 TRUE NA ENSE00001025746_002 ENSE00001025746 002 21 33355791 33355960 + 48 84 38 T C 33355833 63 43 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCCGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983519 31983520 31983520 upstr_intron -6 -0.104166666666667 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCCGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 437 127 0.998864416261172 0.992468205403945 0.995666310832558 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0137762653859328 -0.00521073738616251 NA 0.991383546832673 NA 0.00428276399988514 NA FALSE NA 0.005 0.078 . splice_region_variant&intron_variant LOW HUNK HGNC 13326 ENST00000439107 1/4 1 NA CTG T,C 1.647e-05 21:31983520 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 splice_region_variant 1.215464 0.29471 0.06374 0.053691 0.818789900201452 0.390632 0.997271074532227 TRUE 1.21971e-05 ENSE00001025746_004 ENSE00001025746 004 21 33355791 33355960 + 48 84 38 G T 33355858 65 68 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACATCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983544 31983545 31983545 exon 20 0.238095238095238 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACATCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 838 852 0.994584028122137 0.999596976216448 0.997090502169293 NA NA 0.985088150875239 0.997678942790107 NA NA 0.00949587724689827 0.00191803342634067 NA 0.991383546832673 NA 0.00570695533661947 NA FALSE NA 0.727 0.966 . missense_variant MODERATE HUNK HGNC 13326 ENST00000439107 2/5 1 deleterious(0.01) possibly_damaging(0.784) NA AGC G,T 8.236e-06 21:31983545 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 missense_variant 3.626731 0.56654 0.53041 0.615465 0.981690824820384 0 0.997271074532227 TRUE NA ENSE00001025746_005 ENSE00001025746 005 21 33355791 33355960 + 48 84 38 C T 33355865 66 75 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGTTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983551 31983552 31983552 exon 27 0.321428571428571 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGTTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 352 15 1 1 1 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 0.00232105720989251 NA 0.991383546832673 NA 0.00861645316732684 NA FALSE NA 1 2.299 rs186264022 synonymous_variant LOW HUNK HGNC 13326 ENST00000439107 2/5 rs186264022 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCT C,T 0.0001153 21:31983552 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 synonymous_variant 1.621101 0.94105 0.80247 0.615465 0.702228732296041 0 0.997271074532227 TRUE 0.000101566 ENSE00001025746_006 ENSE00001025746 006 21 33355791 33355960 + 48 84 38 C T 33355868 67 78 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTATAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983554 31983555 31983555 exon 30 0.357142857142857 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTATAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 11 998 1 0.999002335759118 0.999501167879559 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 0.00132339296901063 NA 0.991383546832673 NA 0.0081176210468859 NA FALSE NA 1 0.516 . synonymous_variant LOW HUNK HGNC 13326 ENST00000439107 2/5 1 NA ACA C,T 8.236e-06 21:31983555 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 synonymous_variant 1.119101 0.98158 0.77427 0.615465 0.552339150146418 0 0.997271074532227 TRUE 8.12539e-06 ENSE00001025746_007 ENSE00001025746 007 21 33355791 33355960 + 48 84 38 A G 33355869 68 79 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACGAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983555 31983556 31983556 exon 31 0.369047619047619 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACGAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 136 769 1 1 1 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 0.00232105720989251 NA 0.991383546832673 NA 0.00861645316732684 NA FALSE NA 1 4.245 . missense_variant MODERATE HUNK HGNC 13326 ENST00000439107 2/5 1 deleterious(0.01) probably_damaging(0.999) NA CAA A,G 8.236e-06 21:31983556 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 missense_variant 4.373328 0.97784 0.90045 0.615465 0.998947325909525 0 0.997271074532227 TRUE 4.06263e-06 ENSE00001025746_008 ENSE00001025746 008 21 33355791 33355960 + 48 84 38 C G 33355874 69 84 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACGCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983560 31983561 31983561 exon 36 0.428571428571429 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACGCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 400 1151 1 0.99764772656074 0.99882386328037 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 -3.12162293675255e-05 NA 0.991383546832673 NA 0.00744031644769683 NA FALSE NA 1 1.263 . synonymous_variant LOW HUNK HGNC 13326 ENST00000439107 2/5 1 NA CCC C,G 8.236e-06 21:31983561 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 synonymous_variant 1.548767 0.98258 0.8523 0.615465 0.683510288043344 0 0.997271074532227 TRUE 4.06286e-06 ENSE00001025746_009 ENSE00001025746 009 21 33355791 33355960 + 48 84 38 C T 33355875 70 85 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCTGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983561 31983562 31983562 exon 37 0.44047619047619 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCTGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 72 249 0.994140272091731 1 0.997070136045866 NA NA 0.985088150875239 0.997678942790107 NA NA 0.00905212121649224 0.00232105720989251 NA 0.991383546832673 NA 0.00568658921319237 NA FALSE NA 1 4.879 rs145526252 missense_variant MODERATE HUNK HGNC 13326 ENST00000439107 2/5 rs145526252&COSM399059 1 deleterious(0) possibly_damaging(0.599) NA G:0.0002 G:0 CCG C,T 1.647e-05 21:31983562 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 missense_variant 6.620208 0.98839 0.94465 0.615465 0.998696587900458 0 0.997271074532227 TRUE 1.62521e-05 ENSE00001025746_010 ENSE00001025746 010 21 33355791 33355960 + 48 84 38 G A 33355876 71 86 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCAGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983562 31983563 31983563 exon 38 0.452380952380952 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCAGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 819 407 1 0.997338108998798 0.998669054499399 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 -0.000340833791309669 NA 0.991383546832673 NA 0.00728550766672575 NA FALSE NA 1 3.215 . missense_variant MODERATE HUNK HGNC 13326 ENST00000439107 2/5 rs201538233 1 tolerated(1) benign(0.001) A:0.0004 A:0 A:0.0014 NA A:0 A:0 A:0.001 CGG G,A 0.0001812 21:31983563 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 missense_variant 1.911146 0.95703 0.13379 0.615465 0.494243462747015 0 0.997271074532227 TRUE 0.000170651 ENSE00001025746_011 ENSE00001025746 011 21 33355791 33355960 + 48 84 38 A G 33355889 72 99 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATGGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983575 31983576 31983576 exon -34 0.607142857142857 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATGGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 719 409 1 0.998969853574548 0.999484926787274 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 0.00129091078444032 NA 0.991383546832673 NA 0.00810137995460075 NA FALSE NA 1 1.379 . missense_variant MODERATE HUNK HGNC 13326 ENST00000439107 2/5 1 tolerated(0.05) benign(0.14) NA TAG A,G 8.236e-06 21:31983576 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 missense_variant 1.592319 0.95953 0.67297 0.615465 0.994275477234887 0 0.997271074532227 TRUE 4.06379e-06 ENSE00001025746_012 ENSE00001025746 012 21 33355791 33355960 + 48 84 38 A G 33355899 73 109 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACGGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983585 31983586 31983586 exon -24 0.726190476190476 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACGGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 31 773 1 0.996990252641866 0.998495126320933 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 -0.000688690148241022 NA 0.991383546832673 NA 0.00711157948826008 NA FALSE NA 1 2.378 . missense_variant MODERATE HUNK HGNC 13326 ENST00000439107 2/5 1 deleterious(0.04) benign(0.014) NA CAG A,G 8.237e-06 21:31983586 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 missense_variant 2.532073 0.96612 0.80815 0.615465 0.977834031637296 0 0.997271074532227 TRUE NA ENSE00001025746_013 ENSE00001025746 013 21 33355791 33355960 + 48 84 38 A G 33355909 74 119 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAGGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983595 31983596 31983596 exon -14 0.845238095238095 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAGGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 18 1193 1 0.996411979914442 0.998205989957221 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 -0.00126696287566541 NA 0.991383546832673 NA 0.00682244312454788 NA FALSE NA 0.998 1.3 . missense_variant MODERATE HUNK HGNC 13326 ENST00000439107 2/5 1 tolerated(0.19) benign(0.019) NA AAG A,G 8.237e-06 21:31983596 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 missense_variant 3.256517 0.96633 0.74362 0.615465 0.998361288172433 0 0.997271074532227 TRUE 4.06666e-06 ENSE00001025746_014 ENSE00001025746 014 21 33355791 33355960 + 48 84 38 C T 33355916 75 126 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCTTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983602 31983603 31983603 exon -7 0.928571428571429 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCTTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 260 2099 1 0.954237236967433 0.977118618483717 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 -0.0434417058226743 NA 0.991383546832673 NA -0.0142649283489565 NA FALSE NA 1 0.848 rs188458652 synonymous_variant LOW HUNK HGNC 13326 ENST00000439107 2/5 rs188458652 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 CCT C,T 1.647e-05 21:31983603 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 synonymous_variant 1.948211 0.96938 0.73945 0.615465 0.650150355332245 0 0.997271074532227 TRUE 8.13795e-06 ENSE00001025746_016 ENSE00001025746 016 21 33355791 33355960 + 48 84 38 G C 33355920 77 130 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATCAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG 31983477 31983647 31983606 31983607 31983607 exon -3 0.976190476190476 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATCAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 1378 397 0.998315476879237 0.999601423230628 0.998958450054933 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0132273260039987 0.00192248044052079 NA 0.991383546832673 NA 0.00757490322225973 NA FALSE NA 1 6.167 . missense_variant&splice_region_variant MODERATE HUNK HGNC 13326 ENST00000439107 2/5 1 deleterious(0.01) probably_damaging(0.999) NA TGA G,C 8.237e-06 21:31983607 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 missense_variant 4.624894 0.98911 0.98895 0.615465 0.997599807059009 0 0.997271074532227 TRUE 4.07053e-06 ENSE00001025746_018 ENSE00001025746 018 21 33355791 33355960 + 48 84 38 A T 33355942 79 152 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCATACCTCAGGGTCTCTTAGG 31983477 31983647 31983628 31983629 31983629 downstr_intron 20 1.54054054054054 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCATACCTCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 252 134 1 1 1 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 0.00232105720989251 NA 0.991383546832673 NA 0.00861645316732684 NA FALSE NA 0 -0.117 . intron_variant MODIFIER HUNK HGNC 13326 ENST00000439107 2/4 1 NA AAA A,T 1.648e-05 21:31983629 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 intron_variant 0.014504 0.17539 0.03372 0.053691 0.552100566277389 0.159759 0.997271074532227 TRUE 8.25062e-06 ENSE00001025746_019 ENSE00001025746 019 21 33355791 33355960 + 48 84 38 T G 33355946 80 156 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCGCAGGGTCTCTTAGG 31983477 31983647 31983632 31983633 31983633 downstr_intron 24 1.64864864864865 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCGCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 224 164 1 1 1 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0149118491247612 0.00232105720989251 NA 0.991383546832673 NA 0.00861645316732684 NA FALSE NA 0 -0.019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:31983633 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 intron_variant 0.028794 0.17178 0.02006 0.053691 0.668881108757504 0.100371 0.997271074532227 TRUE 4.17209e-06 ENSE00001025746_020 ENSE00001025746 020 21 33355791 33355960 + 48 84 38 T C 33355946 81 156 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCCCAGGGTCTCTTAGG 31983477 31983647 31983632 31983633 31983633 downstr_intron 24 1.64864864864865 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCCCAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 666 34 0.998616567898886 1 0.999308283949443 NA NA 0.985088150875239 0.997678942790107 NA NA 0.0135284170236473 0.00232105720989251 NA 0.991383546832673 NA 0.00792473711676989 NA FALSE NA 0 -0.019 NA NA NA HUNK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HUNK NA NA NA ENSG00000142149 ENSE00003547885 intron_variant -0.10459 0.07783 0.00043 0.053691 0.600334650198002 0.100371 0.997271074532227 TRUE 4.5893e-05 ENSE00001025746_021 ENSE00001025746 021 21 33355791 33355960 + 48 84 38 C T 33355947 82 157 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTTAGGGTCTCTTAGG 31983477 31983647 31983633 31983634 31983634 downstr_intron 25 1.67567567567568 TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTTAGGGTCTCTTAGG TTCTATTTCTGAGAGTTGAGCTGTGCTTTTTCTTTTCTCCTCTGGTAGAAATCTGACATCCAGGACAGCCTCTGCTACAAGACCCGGCTCTACCAGATAGAAAAGTACAGGGCCCCCAAGGAGTCCTATGAGGTGAGTGACCCCTGAAGCAAACCTCAGGGTCTCTTAGG mutant NA NA NA NA NA 442 1043 0.994982936898734 0.999848338147226 0.99741563752298 NA NA 0.985088150875239 0.997678942790107 NA NA 0.00989478602349469 0.00216939535711891 NA 0.991383546832673 NA 0.0060320906903068 NA FALSE NA 0 -0.047 rs181305234 intron_variant MODIFIER HUNK HGNC 13326 ENST00000439107 2/4 rs181305234 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCA C,T 4.119e-05 21:31983634 HUNK HGNC Symbol protein_coding 171318 ENSG00000142149 ENSE00003547885 intron_variant 0.117311 0.17733 0.02044 0.053691 0.60719139980627 0.100371 0.997271074532227 TRUE 3.33511e-05 ENSE00001026705_000 ENSE00001026705 000 8 97258044 97258213 - 44 72 54 NA NA NA NA NA CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 NA NA NA NA NA NA ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG natural 66 108 0.616824299422683 0.803595265915746 0.710209782669215 3004 2714 0.93510597206655 0.773240169262099 0.854173070664325 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 0 0 0 0 0.710209782669215 0.854173070664325 0 0 0 FALSE FALSE NA NA NA NA NA MTERFD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTERF3 NA NA NA ENSG00000156469 ENSE00001026705 NA NA NA NA NA NA NA NA NA NA ENSE00001026705_001 ENSE00001026705 001 8 97258044 97258213 - 44 72 54 C G 97258063 1706 151 CACTTAAAGAAACTGATTTGTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245834 96245835 96245835 downstr_intron 25 1.58139534883721 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGACAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 510 2964 1 0.977478396566694 0.988739198283347 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0648940279334496 0.204238227304595 0.710209782669215 0.854173070664325 NA 0.134566127619022 NA FALSE NA 0 -0.425 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 6/8 1 NA TCT C,G 8.237e-06 8:96245835 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.80467 0.18164 0.15927 0.156188 0.658523933863457 0.269401 NA NA 4.09584e-06 ENSE00001026705_002 ENSE00001026705 002 8 97258044 97258213 - 44 72 54 A G 97258068 1707 146 CACTTAAAGAAACTGATTTCTCAAGAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245839 96245840 96245840 downstr_intron 20 1.46511627906977 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTCTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 825 453 0.887089682327226 1 0.943544841163613 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA -0.0480162897393243 0.226759830737901 0.710209782669215 0.854173070664325 NA 0.0893717704992882 NA FALSE NA 0.001 0.384 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 6/8 1 NA AAA A,G 8.236e-06 8:96245840 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.423191 0.30123 0.16805 0.156188 0.66112533513928 0.269401 NA NA 4.09561e-06 ENSE00001026705_004 ENSE00001026705 004 8 97258044 97258213 - 44 72 54 C T 97258088 1709 126 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACTTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245859 96245860 96245860 exon -1 1 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAAGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 29 135 0 0 0 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA -0.93510597206655 -0.773240169262099 0.710209782669215 0.854173070664325 NA -0.854173070664325 NA TRUE NA 1 2.834 . splice_region_variant&synonymous_variant LOW MTERFD1 HGNC 24258 ENST00000523821 6/9 1 NA CCT C,T 8.236e-06 8:96245860 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 splice_region_variant 2.420399 0.99054 0.97171 0.732398 0.916142288988421 0 NA NA 2.84442e-05 ENSE00001026705_005 ENSE00001026705 005 8 97258044 97258213 - 44 72 54 A G 97258092 1710 122 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCGTATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245863 96245864 96245864 exon -5 0.944444444444444 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATACGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 531 92 0.999144348226001 0.997904500279522 0.998524424252762 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0640383761594504 0.224664331017423 0.710209782669215 0.854173070664325 NA 0.144351353588437 NA FALSE NA 1 6.818 . missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 COSM292584 1 tolerated(0.16) benign(0.286) NA CAT A,G 8.236e-06 8:96245864 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 4.308611 0.99297 0.99068 0.732398 0.986104714741896 0 NA NA 1.2188e-05 ENSE00001026705_006 ENSE00001026705 006 8 97258044 97258213 - 44 72 54 T C 97258096 1711 118 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATCTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245867 96245868 96245868 exon -9 0.888888888888889 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAGATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 814 945 1 0.975463970422596 0.987731985211298 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0648940279334496 0.202223801160497 0.710209782669215 0.854173070664325 NA 0.133558914546973 NA FALSE NA 1 7.446 . missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 1 deleterious(0) probably_damaging(0.978) NA TTT T,C 3.295e-05 8:96245868 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 6.522436 0.99261 0.9918 0.732398 0.998084843471869 0 NA NA 1.62532e-05 ENSE00001026705_007 ENSE00001026705 007 8 97258044 97258213 - 44 72 54 C T 97258105 1712 109 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCATGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245876 96245877 96245877 exon -18 0.763888888888889 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCATGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 675 700 0.952263428564414 0.994478303787718 0.973370866176066 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0171574564978639 0.221238134525619 0.710209782669215 0.854173070664325 NA 0.119197795511741 NA FALSE NA 0.992 3.577 . missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 rs374487894 1 deleterious(0) probably_damaging(0.98) NA T:0.0005 T:0 ACG C,T 3.295e-05 8:96245877 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 6.76427 0.98191 0.95422 0.732398 0.998136743054653 0 NA NA 1.62561e-05 ENSE00001026705_008 ENSE00001026705 008 8 97258044 97258213 - 44 72 54 G A 97258106 1713 108 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACAGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245877 96245878 96245878 exon -19 0.75 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCTGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 415 107 1 0.998519051821347 0.999259525910673 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0648940279334496 0.225278882559248 0.710209782669215 0.854173070664325 NA 0.145086455246349 NA FALSE NA 0.026 -0.732 . synonymous_variant LOW MTERFD1 HGNC 24258 ENST00000523821 6/9 rs369638814&COSM1458768 1 NA A:0.0005 A:0 CGG G,A 1.647e-05 8:96245878 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 synonymous_variant 1.276881 0.81312 0.0546 0.732398 0.652843109567693 0 NA NA 3.6575e-05 ENSE00001026705_009 ENSE00001026705 009 8 97258044 97258213 - 44 72 54 G C 97258122 1714 92 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCACTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245893 96245894 96245894 exon -35 0.527777777777778 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAAGTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 776 297 0.790058280048459 0.9894094344 0.889733857224229 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA -0.145047692018091 0.2161692651379 0.710209782669215 0.854173070664325 NA 0.0355607865599045 NA FALSE NA 1 5.49 . missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 1 deleterious(0.05) possibly_damaging(0.562) NA AGT G,C 2.471e-05 8:96245894 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 5.136432 0.98978 0.96693 0.732398 0.997371476262904 0 NA NA 2.03112e-05 ENSE00001026705_011 ENSE00001026705 011 8 97258044 97258213 - 44 72 54 T C 97258132 1716 82 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCCTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245903 96245904 96245904 exon 28 0.388888888888889 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAGGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 133 525 1 0.995221570022711 0.997610785011356 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0648940279334496 0.221981400760612 0.710209782669215 0.854173070664325 NA 0.143437714347031 NA FALSE NA 1 1.888 . missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 1 deleterious(0) benign(0.117) NA CTT T,C 8.236e-06 8:96245904 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 5.573784 0.97425 0.95499 0.732398 0.997913424172545 0 NA NA 8.12493e-06 ENSE00001026705_012 ENSE00001026705 012 8 97258044 97258213 - 44 72 54 A G 97258137 1717 77 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGGGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245908 96245909 96245909 exon 23 0.319444444444444 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCCCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 1369 86 0.92713252892973 0.973346505044824 0.950239516987277 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA -0.00797344313682025 0.200106335782725 0.710209782669215 0.854173070664325 NA 0.0960664463229522 NA FALSE NA 1 8.663 . missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 1 deleterious(0.01) probably_damaging(0.981) NA GAG A,G 8.236e-06 8:96245909 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 6.766217 0.99297 0.99525 0.732398 0.999189386087088 0 NA NA 4.06408e-06 ENSE00001026705_013 ENSE00001026705 013 8 97258044 97258213 - 44 72 54 G T 97258138 1718 76 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGATACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245909 96245910 96245910 exon 22 0.305555555555556 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTATCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 131 374 0.999685428177517 0.997938552897894 0.998811990537706 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0645794561109667 0.224698383635795 0.710209782669215 0.854173070664325 NA 0.144638919873381 NA FALSE NA 1 6.139 rs141604955 missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 rs141604955 1 deleterious(0.01) possibly_damaging(0.832) NA T:0 T:0.0003 AGA G,T 0.0004695 8:96245910 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 5.524538 0.99119 0.99033 0.732398 0.995909288795054 0 NA NA 0.000475335 ENSE00001026705_014 ENSE00001026705 014 8 97258044 97258213 - 44 72 54 C T 97258140 1719 74 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGATGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245911 96245912 96245912 exon 20 0.277777777777778 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCATCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 238 598 0.972222949783554 0.998587510000083 0.985405229891818 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0371169777170038 0.225347340737983 0.710209782669215 0.854173070664325 NA 0.131232159227494 NA FALSE NA 1 3.624 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:96245912 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 5.922412 0.98704 0.97051 0.732398 0.998684700202348 0 NA NA 2.84398e-05 ENSE00001026705_015 ENSE00001026705 015 8 97258044 97258213 - 44 72 54 C G 97258140 1720 74 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGAGGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245911 96245912 96245912 exon 20 0.277777777777778 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCCTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 78 1249 0.995152585311588 0.995713337864987 0.995432961588287 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0600466132450376 0.222473168602887 0.710209782669215 0.854173070664325 NA 0.141259890923962 NA FALSE NA 1 3.624 NA NA NA MTERFD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTERF3 NA NA NA ENSG00000156469 ENSE00001026705 missense_variant 7.488404 0.98831 0.98346 0.732398 0.997393419158587 0 NA NA 8.12566e-06 ENSE00001026705_016 ENSE00001026705 016 8 97258044 97258213 - 44 72 54 G A 97258141 1721 73 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACAAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245912 96245913 96245913 exon 19 0.263888888888889 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTTGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 35 97 0.890495572655827 0.906324980269587 0.898410276462707 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA -0.0446103994107235 0.133084811007488 0.710209782669215 0.854173070664325 NA 0.0442372057983821 NA FALSE NA 1 6.043 . missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 COSM3925740 1 deleterious(0) probably_damaging(0.946) NA CGA G,A 3.295e-05 8:96245913 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 7.569317 0.98727 0.98289 0.732398 0.999096699827559 0 NA NA 1.62514e-05 ENSE00001026705_018 ENSE00001026705 018 8 97258044 97258213 - 44 72 54 C G 97258153 1723 61 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATGTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245924 96245925 96245925 exon 7 0.0972222222222222 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGACATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 1556 815 0.989822385640972 0.996334468043308 0.99307842684214 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0547164135744215 0.223094298781209 0.710209782669215 0.854173070664325 NA 0.138905356177815 NA FALSE NA 0.994 1.008 . missense_variant MODERATE MTERFD1 HGNC 24258 ENST00000523821 6/9 1 deleterious(0.01) benign(0.339) NA TCT C,G 9.06e-05 8:96245925 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 missense_variant 3.547931 0.98393 0.95997 0.732398 0.938533855698575 0 NA NA 5.69027e-05 ENSE00001026705_019 ENSE00001026705 019 8 97258044 97258213 - 44 72 54 G C 97258164 1724 50 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTCGTTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245935 96245936 96245936 upstr_intron -5 -0.0740740740740741 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACGACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 1836 864 0.994187379289235 0.996119695339555 0.995153537314395 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0590814072226847 0.222879526077456 0.710209782669215 0.854173070664325 NA 0.14098046665007 NA FALSE NA 0 0.463 . splice_region_variant&intron_variant LOW MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA TGG G,C 8.236e-06 8:96245936 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 splice_region_variant -0.424489 0.29613 0.20173 0.099367 0.413435381484655 0.21591 NA NA 4.07628e-06 ENSE00001026705_020 ENSE00001026705 020 8 97258044 97258213 - 44 72 54 T C 97258166 1725 48 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGCTGCAAACAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245937 96245938 96245938 upstr_intron -7 -0.111111111111111 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAGCCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 1323 561 0.936447648254354 0.989690748979593 0.963069198616974 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0013416761878039 0.216450579717494 0.710209782669215 0.854173070664325 NA 0.108896127952649 NA FALSE NA 0.016 1.814 . splice_region_variant&intron_variant LOW MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA GTT T,C 4.118e-05 8:96245938 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 splice_region_variant -0.064255 0.41462 0.52539 0.099367 0.464273260500044 0.139175 NA NA 2.4518e-05 ENSE00001026705_021 ENSE00001026705 021 8 97258044 97258213 - 44 72 54 C T 97258173 1726 41 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAATAAAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245944 96245945 96245945 upstr_intron -14 -0.240740740740741 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTATTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 265 547 0.999421234633658 0.99866704586939 0.999044140251524 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0643152625671073 0.225426876607291 0.710209782669215 0.854173070664325 NA 0.144871069587199 NA FALSE NA 0.567 -0.073 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA ACA C,T 8.237e-06 8:96245945 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.340128 0.23118 0.06525 0.099367 0.579158308110713 0.139175 NA NA 4.07987e-06 ENSE00001026705_022 ENSE00001026705 022 8 97258044 97258213 - 44 72 54 A G 97258175 1727 39 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAGAACAATCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245946 96245947 96245947 upstr_intron -16 -0.277777777777778 ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTCTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 1367 1431 0.918205303366427 0.997761649668786 0.957983476517607 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA -0.0169006687001231 0.224521480406687 0.710209782669215 0.854173070664325 NA 0.103810405853282 NA FALSE NA 0.819 0.852 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA AAA A,G 8.236e-06 8:96245947 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.39243 0.28338 0.17899 0.099367 0.614235680963022 0.139175 NA NA 4.0866e-06 ENSE00001026705_023 ENSE00001026705 023 8 97258044 97258213 - 44 72 54 T C 97258181 1728 33 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAACCTAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245952 96245953 96245953 upstr_intron -22 -0.388888888888889 ACTAGTTAAAGATGCACGTATAGTAATACTAGGTTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 1322 440 0.971089306516834 1 0.985544653258417 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0359833344502836 0.226759830737901 0.710209782669215 0.854173070664325 NA 0.131371582594092 NA FALSE NA 0 -0.666 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA ATC T,C 8.236e-06 8:96245953 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.249018 0.20049 0.09523 0.099367 0.556508317528979 0.139175 NA NA 4.09246e-06 ENSE00001026705_024 ENSE00001026705 024 8 97258044 97258213 - 44 72 54 T C 97258183 1729 31 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCCAGTATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245954 96245955 96245955 upstr_intron -24 -0.425925925925926 ACTAGTTAAAGATGCACGTATAGTAATACTGGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 733 2174 0.996637957169994 0.999384947207004 0.998011452188499 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.061531985103444 0.226144777944905 0.710209782669215 0.854173070664325 NA 0.143838381524174 NA FALSE NA 0 -0.438 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA CTA T,C 1.647e-05 8:96245955 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.251856 0.20037 0.0517 0.099367 0.512885268314227 0.155388 NA NA 2.47568e-05 ENSE00001026705_025 ENSE00001026705 025 8 97258044 97258213 - 44 72 54 T C 97258186 1730 28 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGCATTACTATACGTGCATCTTTAACTAGT 96245815 96245985 96245957 96245958 96245958 upstr_intron -27 -0.481481481481481 ACTAGTTAAAGATGCACGTATAGTAATGCTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 3152 1279 0.998144383930594 1 0.999072191965297 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0630384118640434 0.226759830737901 0.710209782669215 0.854173070664325 NA 0.144899121300972 NA FALSE NA 0.027 -0.1 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA GTA T,C 8.236e-06 8:96245958 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.299605 0.21301 0.05377 0.099367 0.494276250013497 0.155388 NA NA 8.24586e-06 ENSE00001026705_026 ENSE00001026705 026 8 97258044 97258213 - 44 72 54 A T 97258190 1731 24 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTTCTATACGTGCATCTTTAACTAGT 96245815 96245985 96245961 96245962 96245962 upstr_intron -31 -0.555555555555556 ACTAGTTAAAGATGCACGTATAGAAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 670 174 0.000730553798683073 0.0583345394142658 0.0295325466064745 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA -0.934375418267867 -0.714905629847833 0.710209782669215 0.854173070664325 NA -0.82464052405785 NA TRUE NA 0.426 2.743 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA TAC A,T 8.236e-06 8:96245962 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.306341 0.25488 0.44136 0.099367 0.673096883384924 0.155388 NA NA 1.25267e-05 ENSE00001026705_027 ENSE00001026705 027 8 97258044 97258213 - 44 72 54 T G 97258192 1732 22 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACGATACGTGCATCTTTAACTAGT 96245815 96245985 96245963 96245964 96245964 upstr_intron -33 -0.592592592592593 ACTAGTTAAAGATGCACGTATCGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 196 1678 1 0.999339560319442 0.999669780159721 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0648940279334496 0.226099391057343 0.710209782669215 0.854173070664325 NA 0.145496709495396 NA FALSE NA 0 0.388 . intron_variant MODIFIER MTERFD1 HGNC 24258 ENST00000523821 5/8 1 NA CTA T,G 8.236e-06 8:96245964 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.49985 0.36644 0.36626 0.099367 0.456029412809322 0.696976 NA NA 4.23474e-06 ENSE00001026705_028 ENSE00001026705 028 8 97258044 97258213 - 44 72 54 C A 97258196 1733 18 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATAAGTGCATCTTTAACTAGT 96245815 96245985 96245967 96245968 96245968 upstr_intron -37 -0.666666666666667 ACTAGTTAAAGATGCACTTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 943 751 1 1 1 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0648940279334496 0.226759830737901 0.710209782669215 0.854173070664325 NA 0.145826929335675 NA FALSE NA 0 -2.984 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:96245968 MTERF3 HGNC Symbol protein_coding 22212 ENSG00000156469 ENSE00001026705 intron_variant 0.046841 0.17032 0.03694 0.099367 0.59896326119026 0.155388 NA NA 4.28214e-06 ENSE00001026705_029 ENSE00001026705 029 8 97258044 97258213 - 44 72 54 C T 97258196 1734 18 CACTTAAAGAAACTGATTTCTCAAAAAGCCTAAAGTTGTCCTACCTTCATATTTTCTTTCACGGGTTCCAGACTTCCAGTTAGCAGCCTTGGGAGACGAACTACCAGATCTCTAGTCTGTGGTTGCAAACAAAACAATCTAGTATTACTATATGTGCATCTTTAACTAGT 96245815 96245985 96245967 96245968 96245968 upstr_intron -37 -0.666666666666667 ACTAGTTAAAGATGCACATATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG mutant NA NA NA NA NA 397 820 1 0.98810599782557 0.994052998912785 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA 0.0648940279334496 0.21486582856347 0.710209782669215 0.854173070664325 NA 0.13987992824846 NA FALSE NA 0 -2.984 NA NA NA MTERFD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTERF3 NA NA NA ENSG00000156469 ENSE00001026705 intron_variant 0.020179 0.13083 0.00701 0.099367 0.678594006105316 0.155388 NA NA 1.28464e-05 ENSE00001026705_BRK ENSE00001026705 BRK 8 97258044 97258213 - 44 72 54 A,G; T,T NA NA NA ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACTTACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGCCAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG 96245815 96245985 NA NA NA NA NA NA ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACTTACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGCCAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG ACTAGTTAAAGATGCACGTATAGTAATACTAGATTGTTTTGTTTGCAACCACAGACTAGAGATCTGGTAGTTCGTCTCCCAAGGCTGCTAACTGGAAGTCTGGAACCCGTGAAAGAAAATATGAAGGTAGGACAACTTTAGGCTTTTTGAGAAATCAGTTTCTTTAAGTG control NA NA NA NA NA 546 1652 0.0423785759010781 0.100313266793967 0.0713459213475227 0.616824299422683 0.803595265915746 0.93510597206655 0.773240169262099 NA NA -0.892727396165472 -0.672926902468132 0.710209782669215 0.854173070664325 NA -0.782827149316802 NA TRUE NA NA NA NA NA NA MTERFD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTERF3 NA NA NA ENSG00000156469 ENSE00001026705 NA NA NA NA NA NA NA NA NA NA ENSE00001027060_000 ENSE00001027060 000 10 71640194 71640363 + 65 51 54 NA NA NA NA NA TCCCGCTCCTCTTCTCCATACCTCCCTGCCCCTCGCTCCCTCTCCCCCTTCCTCTCTCCCCGCAGGGGTCCCCCGGAGACGCTGGGCTGTCCATCATTGGTCCCCGCGGCCCCCCTGTAAGTTGTTTTTGCTCTTCCTCGGGGTGTTGGGGGGATGGGTGAGTTGATGAA 69880437 69880607 NA NA NA NA NA NA TCCCGCTCCTCTTCTCCATACCTCCCTGCCCCTCGCTCCCTCTCCCCCTTCCTCTCTCCCCGCAGGGGTCCCCCGGAGACGCTGGGCTGTCCATCATTGGTCCCCGCGGCCCCCCTGTAAGTTGTTTTTGCTCTTCCTCGGGGTGTTGGGGGGATGGGTGAGTTGATGAA TCCCGCTCCTCTTCTCCATACCTCCCTGCCCCTCGCTCCCTCTCCCCCTTCCTCTCTCCCCGCAGGGGTCCCCCGGAGACGCTGGGCTGTCCATCATTGGTCCCCGCGGCCCCCCTGTAAGTTGTTTTTGCTCTTCCTCGGGGTGTTGGGGGGATGGGTGAGTTGATGAA natural NA NA NA NA NA 13 21 0.8 0.8 0.8 NA NA 0.8 0.8 NA NA 0 0 NA 0.8 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001027060 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001028399_000 ENSE00001028399 000 8 124544105 124544274 - 33 93 44 NA NA NA NA NA CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 NA NA NA NA NA NA CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC natural NA NA NA NA NA 1236 865 0.989940880239527 0.964076379021592 0.977008629630559 NA NA 0.989940880239527 0.964076379021592 NA NA 0 0 NA 0.977008629630559 NA 0 NA FALSE NA NA NA NA NA NA FBXO32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXO32 NA NA NA ENSG00000156804 ENSE00003609039 NA NA NA NA NA NA NA 0.972568188048745 TRUE NA ENSE00001028399_002 ENSE00001028399 002 8 124544105 124544274 - 33 93 44 T A 124544120 1985 155 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTTAAGGCTCATCCAGGC 123531864 123532034 123531879 123531880 123531880 downstr_intron 18 1.5625 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTTAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 1111 1409 0.910938967200461 0.999972985733212 0.955455976466836 NA NA 0.989940880239527 0.964076379021592 NA NA -0.079001913039066 0.0358966067116205 NA 0.977008629630559 NA -0.0215526531637227 NA FALSE NA 0 -0.263 . intron_variant MODIFIER FBXO32 HGNC 16731 ENST00000443022 4/6 1 NA TTA T,A 8.236e-06 8:123531880 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 intron_variant 0.267511 0.20761 0.09167 0.162113 0.443222260445896 0.192027 0.972568188048745 TRUE 4.07442e-06 ENSE00001028399_005 ENSE00001028399 005 8 124544105 124544274 - 33 93 44 G T 124544140 1988 135 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCAGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531899 123531900 123531900 exon -3 0.978494623655914 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCAGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 865 892 0.996079315025801 0.999822658424078 0.99795098672494 NA NA 0.989940880239527 0.964076379021592 NA NA 0.00613843478627463 0.0357462794024865 NA 0.977008629630559 NA 0.0209423570943806 NA FALSE NA 0.999 2.854 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:123531900 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 splice_region_variant 1.571523 0.85933 0.75305 0.706548 0.845515534782068 0 0.972568188048745 TRUE 4.06223e-06 ENSE00001028399_006 ENSE00001028399 006 8 124544105 124544274 - 33 93 44 G A 124544140 1989 135 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCTGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531899 123531900 123531900 exon -3 0.978494623655914 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCTGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 595 330 0.99993081430025 1 0.999965407150125 NA NA 0.989940880239527 0.964076379021592 NA NA 0.0099899340607229 0.0359236209784084 NA 0.977008629630559 NA 0.0229567775195657 NA FALSE NA 0.999 2.854 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXO32 NA NA NA ENSG00000156804 ENSE00003609039 missense_variant 6.52358 0.87266 0.88418 0.706548 0.998985122559583 0 0.972568188048745 TRUE 1.21867e-05 ENSE00001028399_007 ENSE00001028399 007 8 124544105 124544274 - 33 93 44 G A 124544141 1990 134 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTTCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531900 123531901 123531901 exon -4 0.967741935483871 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTTCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 1708 754 0.99658322542922 0.997955167526655 0.997269196477938 NA NA 0.989940880239527 0.964076379021592 NA NA 0.00664234518969375 0.0338787885050639 NA 0.977008629630559 NA 0.0202605668473788 NA FALSE NA 0 -3.19 NA NA NA FBXO32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:123531901 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 synonymous_variant 0.195924 0.0835 0.03489 0.706548 0.566414950961621 0 0.972568188048745 TRUE 4.46813e-05 ENSE00001028399_009 ENSE00001028399 009 8 124544105 124544274 - 33 93 44 C T 124544143 1992 132 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGATCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531902 123531903 123531903 exon -6 0.946236559139785 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGATCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 952 186 0.868671535642552 1 0.934335767821276 NA NA 0.989940880239527 0.964076379021592 NA NA -0.121269344596975 0.0359236209784084 NA 0.977008629630559 NA -0.0426728618092831 NA FALSE NA 1 7.603 . missense_variant MODERATE FBXO32 HGNC 16731 ENST00000443022 4/7 1 tolerated(0.13) probably_damaging(0.978) NA ACC C,T 8.236e-06 8:123531903 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 missense_variant 4.906157 0.99522 0.98944 0.706548 0.997533068922007 0 0.972568188048745 TRUE 4.0619e-06 ENSE00001028399_010 ENSE00001028399 010 8 124544105 124544274 - 33 93 44 C G 124544144 1993 131 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTCGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531903 123531904 123531904 exon -7 0.935483870967742 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTCGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 18 218 1 1 1 NA NA 0.989940880239527 0.964076379021592 NA NA 0.0100591197604734 0.0359236209784084 NA 0.977008629630559 NA 0.0229913703694409 NA FALSE NA 0 -5.352 . synonymous_variant LOW FBXO32 HGNC 16731 ENST00000443022 4/7 rs372237779 1 NA G:0.0002 G:0 CCA C,G 2.471e-05 8:123531904 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 synonymous_variant 0.574871 0.16428 0.01978 0.706548 0.680719766139669 0 0.972568188048745 TRUE 1.21865e-05 ENSE00001028399_011 ENSE00001028399 011 8 124544105 124544274 - 33 93 44 C G 124544146 1994 129 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACCTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531905 123531906 123531906 exon -9 0.913978494623656 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACCTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 472 205 0.997532809522929 1 0.998766404761464 NA NA 0.989940880239527 0.964076379021592 NA NA 0.00759192928340224 0.0359236209784084 NA 0.977008629630559 NA 0.0217577751309053 NA FALSE NA 1 7.603 . missense_variant MODERATE FBXO32 HGNC 16731 ENST00000443022 4/7 COSM272686 1 tolerated(0.1) probably_damaging(0.998) NA ACG C,G 1.647e-05 8:123531906 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 missense_variant 6.756544 0.99556 0.99212 0.706548 0.9968047444714 0 0.972568188048745 TRUE 1.62467e-05 ENSE00001028399_012 ENSE00001028399 012 8 124544105 124544274 - 33 93 44 G A 124544147 1995 128 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTATGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531906 123531907 123531907 exon -10 0.903225806451613 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTATGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 549 131 0.982838991022419 0.957102653892283 0.969970822457351 NA NA 0.989940880239527 0.964076379021592 NA NA -0.00710188921710786 -0.00697372512930905 NA 0.977008629630559 NA -0.00703780717320845 NA FALSE NA 0.036 -0.555 . synonymous_variant LOW FBXO32 HGNC 16731 ENST00000443022 4/7 rs375699614 1 NA A:0 A:0.0003 CGT G,A 4.118e-05 8:123531907 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 synonymous_variant 0.604025 0.62981 0.11247 0.706548 0.481065412915141 0 0.972568188048745 TRUE 3.65527e-05 ENSE00001028399_014 ENSE00001028399 014 8 124544105 124544274 - 33 93 44 T C 124544179 1997 96 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAGCTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531938 123531939 123531939 exon -42 0.559139784946237 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAGCTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 2166 305 0.999125391538787 0.999481114258546 0.999303252898667 NA NA 0.989940880239527 0.964076379021592 NA NA 0.00918451129926057 0.0354047352369544 NA 0.977008629630559 NA 0.0222946232681075 NA FALSE NA 1 7.819 . missense_variant MODERATE FBXO32 HGNC 16731 ENST00000443022 4/7 1 deleterious(0.04) benign(0.015) NA GTT T,C 8.236e-06 8:123531939 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 missense_variant 3.665027 0.99354 0.9885 0.706548 0.994279829939016 0 0.972568188048745 TRUE 4.06095e-06 ENSE00001028399_015 ENSE00001028399 015 8 124544105 124544274 - 33 93 44 C A 124544188 1998 87 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGTACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531947 123531948 123531948 exon 43 0.462365591397849 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGTACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 1782 555 0.943844563611485 0.999449540385823 0.971647051998654 NA NA 0.989940880239527 0.964076379021592 NA NA -0.0460963166280413 0.0353731613642319 NA 0.977008629630559 NA -0.0053615776319047 NA FALSE NA 1 7.603 . missense_variant MODERATE FBXO32 HGNC 16731 ENST00000443022 4/7 1 deleterious(0) probably_damaging(1) NA TCC C,A 8.236e-06 8:123531948 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 missense_variant 7.121639 0.99552 0.99163 0.706548 0.995209431263086 0 0.972568188048745 TRUE 4.06088e-06 ENSE00001028399_017 ENSE00001028399 017 8 124544105 124544274 - 33 93 44 C T 124544223 2000 52 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGAATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531982 123531983 123531983 exon 8 0.0860215053763441 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGAATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 260 26 1 1 1 NA NA 0.989940880239527 0.964076379021592 NA NA 0.0100591197604734 0.0359236209784084 NA 0.977008629630559 NA 0.0229913703694409 NA FALSE NA 1 7.603 . missense_variant MODERATE FBXO32 HGNC 16731 ENST00000443022 4/7 1 deleterious(0) probably_damaging(0.998) NA TCC C,T 8.236e-06 8:123531983 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 missense_variant 5.702929 0.99585 0.99077 0.706548 0.997506410223106 0 0.972568188048745 TRUE 4.06154e-06 ENSE00001028399_018 ENSE00001028399 018 8 124544105 124544274 - 33 93 44 C T 124544229 2001 46 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCACCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531988 123531989 123531989 exon 2 0.021505376344086 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCACCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 176 171 0.988451604481882 0.801476790302432 0.894964197392157 NA NA 0.989940880239527 0.964076379021592 NA NA -0.00148927575764479 -0.162599588719159 NA 0.977008629630559 NA -0.082044432238402 NA FALSE NA 1 7.603 . missense_variant&splice_region_variant MODERATE FBXO32 HGNC 16731 ENST00000443022 4/7 1 tolerated(0.05) probably_damaging(0.999) NA GCG C,T 8.236e-06 8:123531989 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 missense_variant 6.688878 0.99585 0.99077 0.706548 0.99884385227324 0 0.972568188048745 TRUE 8.12691e-06 ENSE00001028399_020 ENSE00001028399 020 8 124544105 124544274 - 33 93 44 A C 124544240 2003 35 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTGCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123531999 123532000 123532000 upstr_intron -10 -0.204545454545455 CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTGCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 42 1254 1 0.999665468793345 0.999832734396673 NA NA 0.989940880239527 0.964076379021592 NA NA 0.0100591197604734 0.0355890897717537 NA 0.977008629630559 NA 0.0228241047661135 NA FALSE NA 0 0.897 rs193126181 intron_variant MODIFIER FBXO32 HGNC 16731 ENST00000443022 3/6 rs193126181 1 C:0.0008 C:0 C:0.0058 NA C:0 C:0 C:0 C:0.0002 C:0.0002 GAA A,C 0.0003212 8:123532000 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 non_coding_transcript_exon_variant 0.097149 0.38027 0.30991 0.062308 0.622667879033446 0.400988 0.972568188048745 TRUE 0.000422864 ENSE00001028399_021 ENSE00001028399 021 8 124544105 124544274 - 33 93 44 C G 124544244 2004 31 CTGCATGGCAGGAGTAACTTCTGTGCCTTTCTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 123532003 123532004 123532004 upstr_intron -14 -0.295454545454545 CTGCATGGCAGGAGTAACTTCTGTGCCTTTCTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC mutant NA NA NA NA NA 572 1398 0.952108228526559 0.992054835831057 0.972081532178808 NA NA 0.989940880239527 0.964076379021592 NA NA -0.0378326517129678 0.0279784568094656 NA 0.977008629630559 NA -0.00492709745175107 NA FALSE NA 0 -0.876 . intron_variant MODIFIER FBXO32 HGNC 16731 ENST00000443022 3/6 rs530352473 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 ACA C,G 0.0003624 8:123532004 FBXO32 HGNC Symbol protein_coding 43317 ENSG00000156804 ENSE00003609039 non_coding_transcript_exon_variant -0.161789 0.2474 0.07114 0.062308 0.478725440771632 0.308751 0.972568188048745 TRUE 0.000313189 ENSE00001028399_BRK ENSE00001028399 BRK 8 124544105 124544274 - 33 93 44 A,G; T,T NA NA NA CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCTTCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGCCAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC 123531864 123532034 NA NA NA NA NA NA CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCTTCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGCCAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC CTGCATGGCAGGAGTAACTTCTGTGCCTTTGTTTTCATGTTCAGCGCCATGGATATTGCACCCTGGGGGAAGCTTTCAACAGACTGGACTTCTCAACTGCCATTCTGGATTCCAGAAGATTTAACTACGTGGTCCGGGTAAGTCTCAAGTGCCTAAAGGCTCATCCAGGC control 18 29 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.989940880239527 0.964076379021592 NA NA NA NA NA 0.977008629630559 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXO32 NA NA NA ENSG00000156804 ENSE00003609039 NA NA NA NA NA NA NA 0.972568188048745 TRUE NA ENSE00001028829_000 ENSE00001028829 000 1 100515423 100515592 + 42 96 32 NA NA NA NA NA GTTAACTTTTTTTAACTTTTTAAAAAATCTTGTTTTTTATAGCCTCAAGGAATAGGTTCTCCTAGTGTCTATCATGCAGTTATCGTCATCTTTTTGGAGTTTTTTGCTTGGGGACTATTGACAGCACCCACCTTGGTGGTAAGTAATCTTTTAAATTATTTAACACTGAC 100049866 100050036 NA NA NA NA NA NA GTTAACTTTTTTTAACTTTTTAAAAAATCTTGTTTTTTATAGCCTCAAGGAATAGGTTCTCCTAGTGTCTATCATGCAGTTATCGTCATCTTTTTGGAGTTTTTTGCTTGGGGACTATTGACAGCACCCACCTTGGTGGTAAGTAATCTTTTAAATTATTTAACACTGAC GTTAACTTTTTTTAACTTTTTAAAAAATCTTGTTTTTTATAGCCTCAAGGAATAGGTTCTCCTAGTGTCTATCATGCAGTTATCGTCATCTTTTTGGAGTTTTTTGCTTGGGGACTATTGACAGCACCCACCTTGGTGGTAAGTAATCTTTTAAATTATTTAACACTGAC natural NA NA NA NA NA 596 612 0.998889942064942 0.984708546948434 0.991799244506688 NA NA 0.998889942064942 0.984708546948434 NA NA 0 0 NA 0.991799244506688 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003810820 NA NA NA NA NA NA NA NA NA NA ENSE00001030159_000 ENSE00001030159 000 1 183866897 183867066 + 45 90 35 NA NA NA NA NA TGTGAGCTGTCAGGGAAGACGAGGGCCAGACATACCATGTCCTTCTGGAGCTGCAGCCGCCTCTGGGTACGCTTCTGGTTTTCTTTCACACTGCTGTCCAGGTTTGCAAATTTTGAGGTTCCTTCCTGAGAAACAGAAATGCACACAGAGGGAATTGATACAGGATGCCA 183897762 183897932 NA NA NA NA NA NA TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTCGTCTTCCCTGACAGCTCACA TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTCGTCTTCCCTGACAGCTCACA natural 36 78 0.996053910288464 0.880449100237366 0.938251505262915 128 792 0.982484266127038 0.995611509097295 0.989047887612166 0.996053910288464 0.880449100237366 0.982484266127038 0.995611509097295 0 0 0 0 0.938251505262915 0.989047887612166 0 0 0 FALSE FALSE NA NA NA NA NA RGL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGL1 NA NA NA ENSG00000143344 ENSE00001030159 NA NA NA NA NA NA NA 0.987846908541125 TRUE NA ENSE00001030159_002 ENSE00001030159 002 1 183866897 183867066 + 45 90 35 A G 183866912 4454 16 TGTGAGCTGTCAGGGAAGACGAGGGCCAGACATACCATGTCCTTCTGGAGCTGCAGCCGCCTCTGGGTACGCTTCTGGTTTTCTTTCACACTGCTGTCCAGGTTTGCAAATTTTGAGGTTCCTTCCTGAGAAACAGAAATGCACACAGAGGGAACTGATACAGGATGCCA 183897762 183897932 183897777 183897778 183897778 upstr_intron -30 -0.644444444444444 TGGCATCCTGTATCAGTTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTCGTCTTCCCTGACAGCTCACA TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTCGTCTTCCCTGACAGCTCACA mutant NA NA NA NA NA 699 141 0.997560832926638 1 0.998780416463319 0.996053910288464 0.880449100237366 0.982484266127038 0.995611509097295 NA NA 0.0150765667996006 0.00438849090270499 0.938251505262915 0.989047887612166 NA 0.00973252885115278 NA FALSE NA 0 0.262 . intron_variant MODIFIER RGL1 HGNC 30281 ENST00000304685 10/18 rs374428850 1 NA G:0 G:0.0001 AAT A,G 6.589e-05 1:183897778 RGL1 HGNC Symbol protein_coding 292446 ENSG00000143344 ENSE00001030159 intron_variant -0.024562 0.23601 0.06712 0.08998 0.32078704195185 0.0609966 0.987846908541125 TRUE 6.536e-05 ENSE00001030159_010 ENSE00001030159 010 1 183866897 183867066 + 45 90 35 G A 183867041 4462 145 TGTGAGCTGTCAGGGAAGACGAGGGTCAGACATACCATGTCCTTCTGGAGCTGCAGCCGCCTCTGGGTACGCTTCTGGTTTTCTTTCACACTGCTGTCCAGGTTTGCAAATTTTGAGGTTCCTTCCTGAGAAACAGAAATGCACACAGAGGGAATTGATACAGGATGCCA 183897762 183897932 183897906 183897907 183897907 downstr_intron 10 1.29411764705882 TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGACCCTCGTCTTCCCTGACAGCTCACA TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTCGTCTTCCCTGACAGCTCACA mutant NA NA NA NA NA 244 372 0.995880444905372 0.995367802016359 0.995624123460865 0.996053910288464 0.880449100237366 0.982484266127038 0.995611509097295 NA NA 0.0133961787783343 -0.00024370708093624 0.938251505262915 0.989047887612166 NA 0.00657623584869904 NA FALSE NA 0 0.188 . intron_variant MODIFIER RGL1 HGNC 30281 ENST00000304685 11/18 1 NA GGC G,A 2.471e-05 1:183897907 RGL1 HGNC Symbol protein_coding 292446 ENSG00000143344 ENSE00001030159 intron_variant 0.310649 0.23654 0.04155 0.099367 0.805831511269815 0.104174 0.987846908541125 TRUE 1.63245e-05 ENSE00001030159_011 ENSE00001030159 011 1 183866897 183867066 + 45 90 35 C G 183867046 4463 150 TGTGAGCTGTCAGGGAAGACCAGGGCCAGACATACCATGTCCTTCTGGAGCTGCAGCCGCCTCTGGGTACGCTTCTGGTTTTCTTTCACACTGCTGTCCAGGTTTGCAAATTTTGAGGTTCCTTCCTGAGAAACAGAAATGCACACAGAGGGAATTGATACAGGATGCCA 183897762 183897932 183897911 183897912 183897912 downstr_intron 15 1.44117647058824 TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTGGTCTTCCCTGACAGCTCACA TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTCGTCTTCCCTGACAGCTCACA mutant NA NA NA NA NA 310 200 0.87641990672276 1 0.93820995336138 0.996053910288464 0.880449100237366 0.982484266127038 0.995611509097295 NA NA -0.106064359404278 0.00438849090270499 0.938251505262915 0.989047887612166 NA -0.0508379342507863 NA FALSE NA 0 -2.613 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:183897912 RGL1 HGNC Symbol protein_coding 292446 ENSG00000143344 ENSE00001030159 intron_variant -0.038066 0.1099 0.0261 0.099367 0.433726745005488 0.0587849 0.987846908541125 TRUE 0.000278071 ENSE00001030159_012 ENSE00001030159 012 1 183866897 183867066 + 45 90 35 C T 183867046 4464 150 TGTGAGCTGTCAGGGAAGACAAGGGCCAGACATACCATGTCCTTCTGGAGCTGCAGCCGCCTCTGGGTACGCTTCTGGTTTTCTTTCACACTGCTGTCCAGGTTTGCAAATTTTGAGGTTCCTTCCTGAGAAACAGAAATGCACACAGAGGGAATTGATACAGGATGCCA 183897762 183897932 183897911 183897912 183897912 downstr_intron 15 1.44117647058824 TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTTGTCTTCCCTGACAGCTCACA TGGCATCCTGTATCAATTCCCTCTGTGTGCATTTCTGTTTCTCAGGAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATGGTATGTCTGGCCCTCGTCTTCCCTGACAGCTCACA mutant NA NA NA NA NA 162 133 0.827382592016861 1 0.91369129600843 0.996053910288464 0.880449100237366 0.982484266127038 0.995611509097295 NA NA -0.155101674110177 0.00438849090270499 0.938251505262915 0.989047887612166 NA -0.0753565916037361 NA FALSE NA 0 -2.613 NA NA NA RGL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGL1 NA NA NA ENSG00000143344 ENSE00001030159 intron_variant 0.193094 0.10208 0.01241 0.099367 0.649902123489033 0.0587849 0.987846908541125 TRUE 4.08928e-06 ENSE00001030164_000 ENSE00001030164 000 1 183869237 183869406 + 47 87 36 NA NA NA NA NA AACTTTTCAATGACAATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG 183900102 183900272 NA NA NA NA NA NA AACTTTTCAATGACAATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG AACTTTTCAATGACAATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG natural NA NA NA NA NA 748 1669 0.851587780819117 0.997475187511432 0.924531484165275 NA NA 0.851587780819117 0.997475187511432 NA NA 0 0 NA 0.924531484165275 NA 0 NA FALSE NA NA NA NA NA NA RGL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGL1 NA NA NA ENSG00000143344 ENSE00001030164 NA NA NA NA NA NA NA 0.987846908541125 TRUE NA ENSE00001030164_002 ENSE00001030164 002 1 183869237 183869406 + 47 87 36 A G 183869251 4469 15 AACTTTTCAATGACGATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG 183900102 183900272 183900116 183900117 183900117 upstr_intron -33 -0.680851063829787 AACTTTTCAATGACGATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG AACTTTTCAATGACAATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG mutant NA NA NA NA NA 41 121 1 0.963912260931874 0.981956130465937 NA NA 0.851587780819117 0.997475187511432 NA NA 0.148412219180883 -0.0335629265795582 NA 0.924531484165275 NA 0.0574246463006622 NA FALSE NA 0.004 1.209 . intron_variant MODIFIER RGL1 HGNC 30281 ENST00000304685 11/18 1 NA CAA A,G 8.237e-06 1:183900117 RGL1 HGNC Symbol protein_coding 292446 ENSG00000143344 ENSE00001030164 intron_variant 0.864121 0.39422 0.17864 0.119682 0.886073635121871 0.0862078 0.987846908541125 TRUE 8.1702e-06 ENSE00001030164_003 ENSE00001030164 003 1 183869237 183869406 + 47 87 36 A G 183869258 4470 22 AACTTTTCAATGACAATAAAGGCAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG 183900102 183900272 183900123 183900124 183900124 upstr_intron -26 -0.531914893617021 AACTTTTCAATGACAATAAAGGCAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG AACTTTTCAATGACAATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG mutant NA NA NA NA NA 996 59 0.816058541123446 0.9299152599384 0.872986900530923 NA NA 0.851587780819117 0.997475187511432 NA NA -0.0355292396956713 -0.0675599275730321 NA 0.924531484165275 NA -0.0515445836343517 NA FALSE NA 0 -0.794 . intron_variant MODIFIER RGL1 HGNC 30281 ENST00000304685 11/18 1 NA GAC A,G 8.237e-06 1:183900124 RGL1 HGNC Symbol protein_coding 292446 ENSG00000143344 ENSE00001030164 intron_variant 0.581926 0.24992 0.09754 0.119682 0.773751733787425 0.0862078 0.987846908541125 TRUE 4.08453e-06 ENSE00001030164_007 ENSE00001030164 007 1 183869237 183869406 + 47 87 36 A G 183869338 4474 102 AACTTTTCAATGACAATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCGTGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG 183900102 183900272 183900203 183900204 183900204 exon -33 0.632183908045977 AACTTTTCAATGACAATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCGTGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG AACTTTTCAATGACAATAAAGACAGTTTTGCTTTGGATGCTCTTCAGGGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAGGTGAGTTCCATGTGGGTGGTGTGATCGGGCCTGCAG mutant NA NA NA NA NA 40 256 1 0.993771293512784 0.996885646756392 NA NA 0.851587780819117 0.997475187511432 NA NA 0.148412219180883 -0.00370389399864834 NA 0.924531484165275 NA 0.0723541625911172 NA FALSE NA 1 8.497 . missense_variant MODERATE RGL1 HGNC 30281 ENST00000304685 12/19 1 deleterious(0) possibly_damaging(0.872) NA CAT A,G 8.236e-06 1:183900204 RGL1 HGNC Symbol protein_coding 292446 ENSG00000143344 ENSE00001030164 missense_variant 5.743261 0.97334 0.96378 0.706548 0.996073173677613 0 0.987846908541125 TRUE 4.06266e-06 ENSE00001030397_000 ENSE00001030397 000 3 11421396 11421565 + 50 81 39 NA NA NA NA NA TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 NA NA NA NA NA NA TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT natural NA NA NA NA NA 1922 3810 0.9516291839558 0.979899605732142 0.965764394843971 NA NA 0.9516291839558 0.979899605732142 NA NA 0 0 NA 0.965764394843971 NA 0 NA FALSE NA NA NA NA NA NA ATG7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATG7 NA NA NA ENSG00000197548 ENSE00001030397 NA NA NA NA NA NA NA 1.52666137074291e-05 FALSE NA ENSE00001030397_003 ENSE00001030397 003 3 11421396 11421565 + 50 81 39 T C 11421443 164 48 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTCAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11379968 11379969 11379969 upstr_intron -3 -0.04 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTCAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 157 452 0.993256953681069 0.999831429579644 0.996544191630357 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0416277697252694 0.0199318238475015 NA 0.965764394843971 NA 0.0307797967863854 NA FALSE NA 0.918 -0.042 . splice_region_variant&intron_variant LOW ATG7 HGNC 16935 ENST00000446450 15/16 1 NA TTA T,C 8.236e-06 3:11379969 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 splice_region_variant 1.645926 0.90084 0.27586 0 0.82738474341311 0.462075 1.52666137074291e-05 FALSE 4.06131e-06 ENSE00001030397_005 ENSE00001030397 005 3 11421396 11421565 + 50 81 39 C T 11421464 166 69 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCATGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11379989 11379990 11379990 exon 19 0.234567901234568 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCATGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 367 451 0.98203953894848 0.822352833201606 0.902196186075043 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0304103549926801 -0.157546772530536 NA 0.965764394843971 NA -0.063568208768928 NA FALSE NA 1 2.998 . missense_variant MODERATE ATG7 HGNC 16935 ENST00000446450 16/17 rs371719722 1 deleterious(0) probably_damaging(0.943) NA T:0 T:0.0001 ACG C,T 3.295e-05 3:11379990 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 missense_variant 8.186913 0.92508 0.62024 0.714207 0.99889102709291 0 1.52666137074291e-05 FALSE 3.24981e-05 ENSE00001030397_006 ENSE00001030397 006 3 11421396 11421565 + 50 81 39 T A 11421467 167 72 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGATTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11379992 11379993 11379993 exon 22 0.271604938271605 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGATTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 822 151 0.993158206724657 0.998951185201215 0.996054695962936 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0415290227688571 0.0190515794690725 NA 0.965764394843971 NA 0.0302903011189648 NA FALSE NA 1 6.241 . missense_variant MODERATE ATG7 HGNC 16935 ENST00000446450 16/17 1 deleterious(0) probably_damaging(0.951) NA GTT T,A 8.236e-06 3:11379993 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 missense_variant 7.101908 0.95872 0.86571 0.714207 0.985884403372241 0 1.52666137074291e-05 FALSE 4.06121e-06 ENSE00001030397_007 ENSE00001030397 007 3 11421396 11421565 + 50 81 39 T C 11421472 168 77 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGACAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11379997 11379998 11379998 exon 27 0.333333333333333 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGACAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 404 367 0.951086934957178 1 0.975543467478589 NA NA 0.9516291839558 0.979899605732142 NA NA -0.000542248998621542 0.0201003942678576 NA 0.965764394843971 NA 0.00977907263461802 NA FALSE NA 1 1.64 . synonymous_variant LOW ATG7 HGNC 16935 ENST00000446450 16/17 1 NA ATA T,C 8.236e-06 3:11379998 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 synonymous_variant 0.558444 0.93035 0.62612 0.706548 0.781648677539394 0 1.52666137074291e-05 FALSE 4.06105e-06 ENSE00001030397_008 ENSE00001030397 008 3 11421396 11421565 + 50 81 39 T G 11421475 169 80 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAAGGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380000 11380001 11380001 exon 30 0.37037037037037 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAAGGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 726 1516 0.998975175770533 0.999065730100248 0.999020452935391 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0473459918147332 0.0191661243681057 NA 0.965764394843971 NA 0.0332560580914195 NA FALSE NA 0.583 -0.447 . missense_variant MODERATE ATG7 HGNC 16935 ENST00000446450 16/17 1 tolerated(0.06) benign(0.097) NA ATG T,G 8.236e-06 3:11380001 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 missense_variant 2.605938 0.88991 0.3945 0.706548 0.98430650713108 0 1.52666137074291e-05 FALSE NA ENSE00001030397_009 ENSE00001030397 009 3 11421396 11421565 + 50 81 39 C T 11421484 170 89 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCTGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380009 11380010 11380010 exon 39 0.481481481481481 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCTGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 89 545 0.999536682842684 0.999930140667565 0.999733411755124 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0479074988868841 0.0200305349354224 NA 0.965764394843971 NA 0.0339690169111532 NA FALSE NA 0.984 0.044 . synonymous_variant LOW ATG7 HGNC 16935 ENST00000446450 16/17 COSM272366 1 NA CCG C,T 8.236e-06 3:11380010 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 synonymous_variant 2.536386 0.85261 0.23333 0.706548 0.866933673121254 0 1.52666137074291e-05 FALSE 4.06138e-06 ENSE00001030397_010 ENSE00001030397 010 3 11421396 11421565 + 50 81 39 G A 11421485 171 90 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCATCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380010 11380011 11380011 exon 40 0.493827160493827 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCATCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 92 56 1 1 1 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0483708160442001 0.0201003942678576 NA 0.965764394843971 NA 0.0342356051560289 NA FALSE NA 1 7.695 . missense_variant MODERATE ATG7 HGNC 16935 ENST00000446450 16/17 1 tolerated(0.11) benign(0.028) NA CGT G,A 8.236e-06 3:11380011 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 missense_variant 3.728614 0.96572 0.90227 0.706548 0.995290675278701 0 1.52666137074291e-05 FALSE 1.21862e-05 ENSE00001030397_011 ENSE00001030397 011 3 11421396 11421565 + 50 81 39 A G 11421488 172 93 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCGGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380013 11380014 11380014 exon -39 0.530864197530864 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCGGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 1097 620 0.964025915970834 0.999073922780868 0.981549919375851 NA NA 0.9516291839558 0.979899605732142 NA NA 0.012396732015034 0.0191743170487252 NA 0.965764394843971 NA 0.0157855245318796 NA FALSE NA 1 7.277 . missense_variant MODERATE ATG7 HGNC 16935 ENST00000446450 16/17 1 tolerated(1) benign(0.037) NA CAG A,G 8.236e-06 3:11380014 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 missense_variant 2.114187 0.95897 0.89395 0.706548 0.98266995207022 0 1.52666137074291e-05 FALSE 4.06184e-06 ENSE00001030397_012 ENSE00001030397 012 3 11421396 11421565 + 50 81 39 A G 11421501 173 106 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGGCAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380026 11380027 11380027 exon -26 0.691358024691358 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGGCAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 563 93 0.928955005970857 1 0.964477502985428 NA NA 0.9516291839558 0.979899605732142 NA NA -0.0226741779849431 0.0201003942678576 NA 0.965764394843971 NA -0.00128689185854275 NA FALSE NA 1 7.277 . missense_variant MODERATE ATG7 HGNC 16935 ENST00000446450 16/17 1 deleterious(0.02) possibly_damaging(0.576) NA GAC A,G 1.647e-05 3:11380027 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 missense_variant 3.893384 0.95862 0.89395 0.706548 0.99572726827452 0 1.52666137074291e-05 FALSE 8.12236e-06 ENSE00001030397_013 ENSE00001030397 013 3 11421396 11421565 + 50 81 39 T C 11421508 174 113 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGCACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380033 11380034 11380034 exon -19 0.777777777777778 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGCACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 412 62 1 0.972674428723199 0.986337214361599 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0483708160442001 -0.00722517700894343 NA 0.965764394843971 NA 0.0205728195176283 NA FALSE NA 1 1.994 . synonymous_variant LOW ATG7 HGNC 16935 ENST00000446450 16/17 1 NA GTA T,C 1.647e-05 3:11380034 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 synonymous_variant 0.308679 0.90538 0.41181 0.706548 0.748308870115235 0 1.52666137074291e-05 FALSE 4.06105e-06 ENSE00001030397_015 ENSE00001030397 015 3 11421396 11421565 + 50 81 39 T C 11421515 176 120 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTCGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380040 11380041 11380041 exon -12 0.864197530864197 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTCGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 1417 73 0.995645571792287 1 0.997822785896144 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0440163878364874 0.0201003942678576 NA 0.965764394843971 NA 0.0320583910521725 NA FALSE NA 1 6.241 . missense_variant MODERATE ATG7 HGNC 16935 ENST00000446450 16/17 1 deleterious(0) probably_damaging(0.996) NA TTG T,C 8.236e-06 3:11380041 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 missense_variant 6.324323 0.95761 0.85458 0.730579 0.997978544851342 0 1.52666137074291e-05 FALSE 4.06108e-06 ENSE00001030397_017 ENSE00001030397 017 3 11421396 11421565 + 50 81 39 G A 11421539 178 144 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTATATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380064 11380065 11380065 downstr_intron 13 1.34210526315789 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTATATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 187 225 0.995425342825574 1 0.997712671412787 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0437961588697739 0.0201003942678576 NA 0.965764394843971 NA 0.0319482765688158 NA FALSE NA 0.055 0.103 . intron_variant MODIFIER ATG7 HGNC 16935 ENST00000446450 16/16 1 NA TGT G,A 1.647e-05 3:11380065 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 intron_variant 1.333924 0.23676 0.05458 0.108992 0.843746124275964 0.130373 1.52666137074291e-05 FALSE 4.06108e-06 ENSE00001030397_018 ENSE00001030397 018 3 11421396 11421565 + 50 81 39 A G 11421541 179 146 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTGTTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380066 11380067 11380067 downstr_intron 15 1.39473684210526 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTGTTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 426 1006 1 0.999810626818619 0.999905313409309 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0483708160442001 0.0199110210864761 NA 0.965764394843971 NA 0.0341409185653381 NA FALSE NA 0 -0.845 . intron_variant MODIFIER ATG7 HGNC 16935 ENST00000446450 16/16 1 NA TAT A,G 4.942e-05 3:11380067 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 intron_variant 1.433243 0.2062 0.05166 0.108992 0.668587796505747 0.117652 1.52666137074291e-05 FALSE 5.6862e-05 ENSE00001030397_019 ENSE00001030397 019 3 11421396 11421565 + 50 81 39 T C 11421542 180 147 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTACTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 11380067 11380068 11380068 downstr_intron 16 1.42105263157895 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTACTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 81 346 1 1 1 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0483708160442001 0.0201003942678576 NA 0.965764394843971 NA 0.0342356051560289 NA FALSE NA 0 0.495 . intron_variant MODIFIER ATG7 HGNC 16935 ENST00000446450 16/16 1 NA ATT T,C 1.647e-05 3:11380068 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 intron_variant 1.137258 0.26693 0.07235 0.108992 0.734055504871311 0.117652 1.52666137074291e-05 FALSE 1.21838e-05 ENSE00001030397_020 ENSE00001030397 020 3 11421396 11421565 + 50 81 39 G A 11421554 181 159 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTATTTTTAAAAGT 11379921 11380091 11380079 11380080 11380080 downstr_intron 28 1.73684210526316 TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTATTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT mutant NA NA NA NA NA 294 21 1 1 1 NA NA 0.9516291839558 0.979899605732142 NA NA 0.0483708160442001 0.0201003942678576 NA 0.965764394843971 NA 0.0342356051560289 NA FALSE NA 0 -0.345 . intron_variant MODIFIER ATG7 HGNC 16935 ENST00000446450 16/16 rs374959917 1 NA A:0.0002 A:0 TGT G,A 8.236e-06 3:11380080 ATG7 HGNC Symbol protein_coding 285356 ENSG00000197548 ENSE00001030397 intron_variant 0.524258 0.1909 0.04381 0.108992 0.817268271265547 0.0709437 1.52666137074291e-05 FALSE NA ENSE00001030397_BRK ENSE00001030397 BRK 3 11421396 11421565 + 50 81 39 A,G; T,T NA NA NA TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTTTATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAACCAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT 11379921 11380091 NA NA NA NA NA NA TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTTTATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAACCAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT TGTGGTCGTTGTGTGTTTGATGTGAATTGTTTTGTTTTGTTTGTTTTTAGATCCGGGGATTTCTTTCACGGTTTGATAATGTCCTTCCCGTCAGCCTGGCATTTGACAAATGTACAGCTTGTTCTTCCAAAGTAAGTCATTTTGTATTGGAGGGACTTGTTTTTAAAAGT control NA NA NA NA NA 211 110 0 0.00292230085258218 0.00146115042629109 NA NA 0.9516291839558 0.979899605732142 NA NA -0.9516291839558 -0.97697730487956 NA 0.965764394843971 NA -0.96430324441768 NA TRUE NA NA NA NA NA NA ATG7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATG7 NA NA NA ENSG00000197548 ENSE00001030397 NA NA NA NA NA NA NA 1.52666137074291e-05 FALSE NA ENSE00001030854_000 ENSE00001030854 000 1 53364792 53364961 - 54 51 65 NA NA NA NA NA CACCTCAGACCTGCAACTATCAGCCTTGATGCCCTCCTCAACCAAGACTTTTTGCTTTTCCCTAGGCCCCCATTGCCGTGCGGCTGGGCAAAGTAGCCATTGACCGAGGAACGGAGGTGAGAGGGTTTTGGGTTGGGACTTGGGTCCACTAAAGTTGGTCGCGGCTGGGA 52899119 52899289 NA NA NA NA NA NA CACCTCAGACCTGCAACTATCAGCCTTGATGCCCTCCTCAACCAAGACTTTTTGCTTTTCCCTAGGCCCCCATTGCCGTGCGGCTGGGCAAAGTAGCCATTGACCGAGGAACGGAGGTGAGAGGGTTTTGGGTTGGGACTTGGGTCCACTAAAGTTGGTCGCGGCTGGGA CACCTCAGACCTGCAACTATCAGCCTTGATGCCCTCCTCAACCAAGACTTTTTGCTTTTCCCTAGGCCCCCATTGCCGTGCGGCTGGGCAAAGTAGCCATTGACCGAGGAACGGAGGTGAGAGGGTTTTGGGTTGGGACTTGGGTCCACTAAAGTTGGTCGCGGCTGGGA natural NA NA NA NA NA 175 517 0.999764600569268 0.99828877309601 0.999026686832639 NA NA 0.999764600569268 0.99828877309601 NA NA 0 0 NA 0.999026686832639 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003630455 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001030854_BRK ENSE00001030854 BRK 1 53364792 53364961 - 54 51 65 A,G; T,T NA NA NA CACCTCAGACCTGCAACTATCAGCCTTGATGCCCTCCTCAACCAAGACTTTTTGCTTTTCCCTTTGCCCCCATTGCCGTGCGGCTGGGCAAAGTAGCCATTGACCGAGGAACGGAGCCGAGAGGGTTTTGGGTTGGGACTTGGGTCCACTAAAGTTGGTCGCGGCTGGGA 52899119 52899289 NA NA NA NA NA NA CACCTCAGACCTGCAACTATCAGCCTTGATGCCCTCCTCAACCAAGACTTTTTGCTTTTCCCTTTGCCCCCATTGCCGTGCGGCTGGGCAAAGTAGCCATTGACCGAGGAACGGAGCCGAGAGGGTTTTGGGTTGGGACTTGGGTCCACTAAAGTTGGTCGCGGCTGGGA CACCTCAGACCTGCAACTATCAGCCTTGATGCCCTCCTCAACCAAGACTTTTTGCTTTTCCCTAGGCCCCCATTGCCGTGCGGCTGGGCAAAGTAGCCATTGACCGAGGAACGGAGGTGAGAGGGTTTTGGGTTGGGACTTGGGTCCACTAAAGTTGGTCGCGGCTGGGA control 202 301 0.0448223184099958 0.00216181612557082 0.0234920672677833 NA NA NA NA NA NA NA 0.999764600569268 0.99828877309601 NA NA NA NA NA 0.999026686832639 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003630455 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001031674_000 ENSE00001031674 000 9 95418706 95418875 - 32 96 42 NA NA NA NA NA GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 NA NA NA NA NA NA GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG natural 223 172 0.988303039715541 0.994696199549969 0.991499619632755 6343 4017 0.993034600459484 0.977579128164772 0.985306864312128 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 0 0 0 0 0.991499619632755 0.985306864312128 0 0 0 FALSE FALSE NA NA NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00001031674 NA NA NA NA NA NA NA 0.973790826181443 TRUE NA ENSE00001031674_002 ENSE00001031674 002 9 95418706 95418875 - 32 96 42 A G 95418743 821 133 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATCATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656460 92656461 92656461 exon -6 0.947916666666667 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATCATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 1361 1623 0.99391476531569 0.993810543399869 0.99386265435778 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.000880164856206012 0.016231415235097 0.991499619632755 0.985306864312128 NA 0.00855579004565149 NA FALSE NA 0.997 1.545 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 3/13 rs369189658 1 tolerated(0.54) benign(0.001) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAA A 0.0001894 9:92656461 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 missense_variant 1.009113 0.95864 0.59055 0.706298 0.95614355034856 0 0.973790826181443 TRUE 0.000235518 ENSE00001031674_003 ENSE00001031674 003 9 95418706 95418875 - 32 96 42 T C 95418745 822 131 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCGTTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656462 92656463 92656463 exon -8 0.927083333333333 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCGTTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 145 122 1 1 1 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.00696539954051578 0.0224208718352282 0.991499619632755 0.985306864312128 NA 0.014693135687872 NA FALSE NA 1 5.841 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 3/13 1 deleterious(0.05) probably_damaging(0.971) NA ATG T 8.236e-06 9:92656463 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 missense_variant 3.300979 0.97879 0.94127 0.706298 0.995561038743473 0 0.973790826181443 TRUE 4.06072e-06 ENSE00001031674_004 ENSE00001031674 004 9 95418706 95418875 - 32 96 42 C T 95418749 823 127 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATATTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656466 92656467 92656467 exon -12 0.885416666666667 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATATTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 1145 2351 0.997042411831399 0.998295592900799 0.997669002366099 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.00400781137191475 0.0207164647360274 0.991499619632755 0.985306864312128 NA 0.0123621380539711 NA FALSE NA 1 3.064 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 3/13 1 tolerated(0.18) benign(0.036) NA ACA C 8.236e-06 9:92656467 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 missense_variant 2.285024 0.96949 0.794 0.706298 0.977802482322925 0 0.973790826181443 TRUE 4.06072e-06 ENSE00001031674_005 ENSE00001031674 005 9 95418706 95418875 - 32 96 42 T C 95418751 824 125 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTGTGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656468 92656469 92656469 exon -14 0.864583333333333 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTGTGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 603 1209 0.998471693166693 0.991898885722614 0.995185289444654 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.00543709270720905 0.014319757557842 0.991499619632755 0.985306864312128 NA 0.00987842513252551 NA FALSE NA 1 0.602 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 3/13 1 tolerated(0.06) benign(0.009) NA ATA T 8.236e-06 9:92656469 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 missense_variant 1.155585 0.93326 0.64371 0.706298 0.94831259456528 0 0.973790826181443 TRUE 4.06075e-06 ENSE00001031674_006 ENSE00001031674 006 9 95418706 95418875 - 32 96 42 C T 95418759 825 117 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGAGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656476 92656477 92656477 exon -22 0.78125 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGAGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 596 554 0.999376893466426 0.997763238525734 0.99857006599608 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.00634229300694145 0.0201841103609627 0.991499619632755 0.985306864312128 NA 0.0132632016839521 NA FALSE NA 0.998 0.535 . synonymous_variant LOW IPPK HGNC 14645 ENST00000287996 3/13 1 NA CCC C 8.236e-06 9:92656477 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 synonymous_variant 1.827454 0.94628 0.66639 0.706298 0.669458938616747 0 0.973790826181443 TRUE 4.06072e-06 ENSE00001031674_007 ENSE00001031674 007 9 95418706 95418875 - 32 96 42 A G 95418796 826 80 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGCGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656513 92656514 92656514 exon 38 0.395833333333333 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGCGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 1065 157 0.942211121291897 0.982115757062429 0.962163439177163 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA -0.0508234791675873 0.00453662889765716 0.991499619632755 0.985306864312128 NA -0.0231434251349651 NA FALSE NA 1 4.844 rs149366566 missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 3/13 rs149366566 1 tolerated(0.14) possibly_damaging(0.906) NA G:0 G:0.0002 CAC A 1.647e-05 9:92656514 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 missense_variant 4.019948 0.97975 0.9212 0.615465 0.997579683192055 0 0.973790826181443 TRUE 4.06065e-05 ENSE00001031674_008 ENSE00001031674 008 9 95418706 95418875 - 32 96 42 G A 95418801 827 75 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAATATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656518 92656519 92656519 exon 33 0.34375 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAATATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 443 381 1 0.999484411371512 0.999742205685756 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.00696539954051578 0.0219052832067407 0.991499619632755 0.985306864312128 NA 0.0144353413736282 NA FALSE NA 1 3.526 . synonymous_variant LOW IPPK HGNC 14645 ENST00000287996 3/13 1 NA TGT G 1.647e-05 9:92656519 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 synonymous_variant 0.762298 0.96728 0.86701 0.562547 0.519213470467463 0 0.973790826181443 TRUE 5.27889e-05 ENSE00001031674_010 ENSE00001031674 010 9 95418706 95418875 - 32 96 42 T C 95418821 829 55 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGGTATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656538 92656539 92656539 exon 13 0.135416666666667 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGGTATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 2037 3940 0.815121362316631 0.7637477861238 0.789434574220215 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA -0.177913238142853 -0.213831342040972 0.991499619632755 0.985306864312128 NA -0.195872290091913 NA FALSE NA 1 2.09 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 3/13 1 tolerated(0.3) benign(0.004) NA ATC T 8.236e-06 9:92656539 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 missense_variant -0.903873 0.95951 0.63229 0.706548 0.405125146762779 0 0.973790826181443 TRUE 4.06068e-06 ENSE00001031674_011 ENSE00001031674 011 9 95418706 95418875 - 32 96 42 C T 95418828 830 48 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCAGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656545 92656546 92656546 exon 6 0.0625 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCAGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 61 235 0.989795179400399 0.993948610412508 0.991871894906454 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA -0.00323942105908526 0.0163694822477364 0.991499619632755 0.985306864312128 NA 0.00656503059432556 NA FALSE NA 0.682 -0.526 . synonymous_variant LOW IPPK HGNC 14645 ENST00000287996 3/13 COSM2731885 1 NA CCG C 1.647e-05 9:92656546 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 synonymous_variant 0.891331 0.08469 0.01229 0.706548 0.560832884596231 0 0.973790826181443 TRUE 1.62437e-05 ENSE00001031674_012 ENSE00001031674 012 9 95418706 95418875 - 32 96 42 G A 95418829 831 47 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTTGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656546 92656547 92656547 exon 5 0.0520833333333333 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTTGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 684 231 0.987494064110723 0.998314895397278 0.992904479754001 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA -0.0055405363487615 0.0207357672325067 0.991499619632755 0.985306864312128 NA 0.0075976154418726 NA FALSE NA 1 6.798 . missense_variant MODERATE IPPK HGNC 14645 ENST00000287996 3/13 1 tolerated(0.15) benign(0.035) NA CGA G 1.647e-05 9:92656547 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 missense_variant 2.429175 0.96465 0.98451 0.706548 0.990817804402132 0 0.973790826181443 TRUE 2.43653e-05 ENSE00001031674_013 ENSE00001031674 013 9 95418706 95418875 - 32 96 42 G T 95418831 832 45 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACATCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656548 92656549 92656549 exon 3 0.03125 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACATCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 329 759 0.998994989140998 0.995246303712565 0.997120646426782 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.00596038868151372 0.0176671755477936 0.991499619632755 0.985306864312128 NA 0.0118137821146537 NA FALSE NA 0.959 -0.067 NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:92656549 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 splice_region_variant 0.335078 0.88734 0.43667 0.706548 0.41350172385224 0 0.973790826181443 TRUE 1.21824e-05 ENSE00001031674_015 ENSE00001031674 015 9 95418706 95418875 - 32 96 42 T C 95418833 834 43 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGGCCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656550 92656551 92656551 exon 1 0.0104166666666667 GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGGCCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 1822 1845 0.99618660659362 0.996176941377891 0.996181773985756 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.00315200613413558 0.0185978132131196 0.991499619632755 0.985306864312128 NA 0.0108749096736276 NA FALSE NA 1 1.069 . missense_variant&splice_region_variant MODERATE IPPK HGNC 14645 ENST00000287996 3/13 1 tolerated(0.09) benign(0.006) NA GTC T 8.236e-06 9:92656551 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 missense_variant -0.666096 0.95517 0.6868 0.706548 0.71832572882632 0 0.973790826181443 TRUE 1.21835e-05 ENSE00001031674_017 ENSE00001031674 017 9 95418706 95418875 - 32 96 42 C T 95418847 836 29 GAGGTCCCATCACGAAGGCTGTCCTGTGATTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656564 92656565 92656565 upstr_intron -14 -0.30952380952381 GAGGTCCCATCACGAAGGCTGTCCTGTGATTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 1048 392 0.999606652223581 0.803987018048428 0.901796835136005 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA 0.00657205176409703 -0.173592110116343 0.991499619632755 0.985306864312128 NA -0.0835100291761232 NA FALSE NA 0.053 -0.014 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 2/12 1 NA ACC C 8.237e-06 9:92656565 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 intron_variant -0.038895 0.65976 0.04255 0.084033 0.650793871637024 0.0853524 0.973790826181443 TRUE 8.12275e-06 ENSE00001031674_018 ENSE00001031674 018 9 95418706 95418875 - 32 96 42 C G 95418855 837 21 GAGGTCCCATCACGAAGGCTCTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656572 92656573 92656573 upstr_intron -22 -0.5 GAGGTCCCATCACGAAGGCTCTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 1919 658 0.982625280518378 0.99608438847964 0.989354834499009 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA -0.0104093199411058 0.0185052603148685 0.991499619632755 0.985306864312128 NA 0.00404797018688136 NA FALSE NA 0 -1.584 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 2/12 1 NA ACA C 8.237e-06 9:92656573 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 intron_variant -0.715887 0.0808 0.01869 0.084033 0.406043022972529 0.0716818 0.973790826181443 TRUE 4.0624e-06 ENSE00001031674_019 ENSE00001031674 019 9 95418706 95418875 - 32 96 42 C T 95418858 838 18 GAGGTCCCATCACGAAGACTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656575 92656576 92656576 upstr_intron -25 -0.571428571428571 GAGGTCCCATCACGAAGACTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 1967 909 0.991134992538291 1 0.995567496269146 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA -0.00189960792119315 0.0224208718352282 0.991499619632755 0.985306864312128 NA 0.0102606319570175 NA FALSE NA 0 -0.361 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 2/12 rs530919227 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCC C 8.237e-06 9:92656576 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 intron_variant 0.320719 0.18247 0.04327 0.084033 0.543203370026346 0.0716818 0.973790826181443 TRUE NA ENSE00001031674_020 ENSE00001031674 020 9 95418706 95418875 - 32 96 42 C T 95418862 839 14 GAGGTCCCATCACAAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 92656579 92656580 92656580 upstr_intron -29 -0.666666666666667 GAGGTCCCATCACAAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG mutant NA NA NA NA NA 455 379 0.990484881827597 0.999481687366477 0.994983284597037 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 NA NA -0.00254971863188735 0.0219025592017051 0.991499619632755 0.985306864312128 NA 0.00967642028490889 NA FALSE NA 0 0.827 . intron_variant MODIFIER IPPK HGNC 14645 ENST00000287996 2/12 1 NA TCG C 2.471e-05 9:92656580 IPPK HGNC Symbol protein_coding 57081 ENSG00000127080 ENSE00001031674 intron_variant 0.160725 0.17472 0.04368 0.084033 0.556235537254406 0.0469491 0.973790826181443 TRUE 1.62651e-05 ENSE00001031674_BRK ENSE00001031674 BRK 9 95418706 95418875 - 32 96 42 A,G; T,T NA NA NA GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACTTACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGCCAAGTGCTTTTTATTCACATCTGAATTCTTG 92656423 92656593 NA NA NA NA NA NA GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACTTACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGCCAAGTGCTTTTTATTCACATCTGAATTCTTG GAGGTCCCATCACGAAGGCTGTCCTGTGGTTGTCTCTTACAGACCTCGGAAGAGATATTTCAACACCTGCAGAACATAGTGGACTTTGGGAAAAATGTCATGAAGGAGTTTTTGGGGGAGAACTATGTTCATTATGGGGTAAGTGCTTTTTATTCACATCTGAATTCTTG control 1162 381 0.00452886501393899 0 0.00226443250696949 37 3321 0 0.00446535906704621 0.00223267953352311 0.988303039715541 0.994696199549969 0.993034600459484 0.977579128164772 -0.983774174701602 -0.994696199549969 -0.993034600459484 -0.973113769097726 0.991499619632755 0.985306864312128 -0.989235187125785 -0.983074184778605 0.00616100234718042 TRUE TRUE NA NA NA NA NA IPPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPPK NA NA NA ENSG00000127080 ENSE00001031674 NA NA NA NA NA NA NA 0.973790826181443 TRUE NA ENSE00001031993_000 ENSE00001031993 000 6 35715299 35715468 + 54 72 44 NA NA NA NA NA TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT 35747521 35747691 NA NA NA NA NA NA TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT natural 106 51 0.975015536757542 0.970289112255226 0.972652324506384 2006 1554 0.942369101211038 0.994356420009941 0.96836276061049 0.975015536757542 0.970289112255226 0.942369101211038 0.994356420009941 0 0 0 0 0.972652324506384 0.96836276061049 0 0 0 FALSE FALSE NA NA NA NA NA ARMC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARMC12 NA NA NA ENSG00000157343 ENSE00001031993 NA NA NA NA NA NA NA 0.000270201697673098 FALSE NA ENSE00001031993_005 ENSE00001031993 005 6 35715299 35715468 + 54 72 44 C T 35715361 1102 63 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCTGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT 35747521 35747691 35747583 35747584 35747584 exon 9 0.125 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCTGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT mutant NA NA NA NA NA 645 228 0.998070012449876 1 0.999035006224938 0.975015536757542 0.970289112255226 0.942369101211038 0.994356420009941 NA NA 0.0557009112388371 0.00564357999005927 0.972652324506384 0.96836276061049 NA 0.0306722456144482 NA FALSE NA 0 -1.579 . synonymous_variant LOW ARMC12 HGNC 21099 ENST00000288065 5/6 1 NA CCG C,T 1.647e-05 6:35747584 ARMC12 HGNC Symbol protein_coding 12047 ENSG00000157343 ENSE00001031993 synonymous_variant 2.057088 0.1263 0.00887 0.615465 0.410458954563649 0 0.000270201697673098 FALSE 1.62458e-05 ENSE00001031993_010 ENSE00001031993 010 6 35715299 35715468 + 54 72 44 G A 35715373 1107 75 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTAAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT 35747521 35747691 35747595 35747596 35747596 exon 21 0.291666666666667 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTAAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT mutant NA NA NA NA NA 11 105 1 1 1 0.975015536757542 0.970289112255226 0.942369101211038 0.994356420009941 NA NA 0.0576308987889615 0.00564357999005927 0.972652324506384 0.96836276061049 NA 0.0316372393895104 NA FALSE NA 1 3.547 . synonymous_variant LOW ARMC12 HGNC 21099 ENST00000288065 5/6 rs368144123 1 NA A:0.0002 A:0 TGA G,A 3.295e-05 6:35747596 ARMC12 HGNC Symbol protein_coding 12047 ENSG00000157343 ENSE00001031993 synonymous_variant 1.134105 0.96385 0.82561 0.615465 0.747980159211534 0 0.000270201697673098 FALSE 1.62463e-05 ENSE00001031993_011 ENSE00001031993 011 6 35715299 35715468 + 54 72 44 C A 35715384 1108 86 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGAACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT 35747521 35747691 35747606 35747607 35747607 exon 32 0.444444444444444 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGAACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT mutant NA NA NA NA NA 15 91 1 0.802771303309693 0.901385651654846 0.975015536757542 0.970289112255226 0.942369101211038 0.994356420009941 NA NA 0.0576308987889615 -0.191585116700248 0.972652324506384 0.96836276061049 NA -0.0669771089556432 NA FALSE NA 0.989 2.665 . missense_variant MODERATE ARMC12 HGNC 21099 ENST00000288065 5/6 1 deleterious(0.01) possibly_damaging(0.786) NA GCA C,A 8.236e-06 6:35747607 ARMC12 HGNC Symbol protein_coding 12047 ENSG00000157343 ENSE00001031993 missense_variant 6.736725 0.97777 0.87619 0.615465 0.989857471059515 0 0.000270201697673098 FALSE 8.12295e-06 ENSE00001031993_017 ENSE00001031993 017 6 35715299 35715468 + 54 72 44 C T 35715409 1114 111 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGATATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT 35747521 35747691 35747631 35747632 35747632 exon -16 0.791666666666667 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGATATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT mutant NA NA NA NA NA 34 60 1 1 1 0.975015536757542 0.970289112255226 0.942369101211038 0.994356420009941 NA NA 0.0576308987889615 0.00564357999005927 0.972652324506384 0.96836276061049 NA 0.0316372393895104 NA FALSE NA 1 1.87 . synonymous_variant LOW ARMC12 HGNC 21099 ENST00000288065 5/6 1 NA ACA C,T 8.236e-06 6:35747632 ARMC12 HGNC Symbol protein_coding 12047 ENSG00000157343 ENSE00001031993 synonymous_variant 1.408892 0.94489 0.40381 0.615465 0.648401682682028 0 0.000270201697673098 FALSE 4.0618e-06 ENSE00001031993_024 ENSE00001031993 024 6 35715299 35715468 + 54 72 44 G A 35715457 1121 159 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATACCAACTCAGGT 35747521 35747691 35747679 35747680 35747680 downstr_intron 33 1.76744186046512 TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATACCAACTCAGGT TGCTGAGGCCCAGACTCACCTGCCTTCTCATGCTTTACTCTTTCCTTTATTCAGGTGCAAGCCGTACGACTGCTGAGCTACCTGGCACAGAAGAATGACCTTCTCTATGACATTCTCAACTGCCAGGTGAGAAAGAAATTGAAGAGGGGCTGATGAATGCCAACTCAGGT mutant NA NA NA NA NA 519 29 0.999682393482165 1 0.999841196741083 0.975015536757542 0.970289112255226 0.942369101211038 0.994356420009941 NA NA 0.0573132922711267 0.00564357999005927 0.972652324506384 0.96836276061049 NA 0.031478436130593 NA FALSE NA 0 -0.334 . intron_variant MODIFIER ARMC12 HGNC 21099 ENST00000288065 5/5 1 NA TGC G,A 8.236e-06 6:35747680 ARMC12 HGNC Symbol protein_coding 12047 ENSG00000157343 ENSE00001031993 intron_variant 1.533727 0.14913 0.02509 0.053691 0.770470769960055 0.151247 0.000270201697673098 FALSE 8.15335e-06 ENSE00001032994_000 ENSE00001032994 000 5 148691631 148691800 + 44 93 33 NA NA NA NA NA AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 NA NA NA NA NA NA AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC natural 185 149 0.995540484017374 0.993411074563595 0.994475779290485 2162 3023 0.991374475395132 0.942165970387914 0.966770222891523 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 0 0 0 0 0.994475779290485 0.966770222891523 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFAP1L1 NA NA NA ENSG00000157510 ENSE00001032994 NA NA NA NA NA NA NA 4.06878415314462e-08 FALSE NA ENSE00001032994_001 ENSE00001032994 001 5 148691631 148691800 + 44 93 33 C T 148691647 1659 17 AGCTTCCCTGCCCACCTGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312083 149312084 149312084 upstr_intron -28 -0.613636363636364 AGCTTCCCTGCCCACCTGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 489 2593 0.997167488784583 0.99569116558153 0.996429327183056 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00579301338945082 0.0535251951936156 0.994475779290485 0.966770222891523 NA 0.0296591042915332 NA FALSE NA 0 -1.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149312084 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 intron_variant 0.018177 0.10773 0.00061 0.048788 0.39070555053246 0.0979354 4.06878415314462e-08 FALSE 0.000462642 ENSE00001032994_002 ENSE00001032994 002 5 148691631 148691800 + 44 93 33 C A 148691647 1660 17 AGCTTCCCTGCCCACCAGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312083 149312084 149312084 upstr_intron -28 -0.613636363636364 AGCTTCCCTGCCCACCAGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 1028 320 0.994560209683196 0.99855997663093 0.996560093157063 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00318573428806379 0.0563940062430162 0.994475779290485 0.966770222891523 NA 0.02978987026554 NA FALSE NA 0 -1.054 NA NA NA AFAP1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFAP1L1 NA NA NA ENSG00000157510 ENSE00001032994 intron_variant 0.024971 0.17274 0.01856 0.048788 0.450888636009976 0.0979354 4.06878415314462e-08 FALSE 4.13073e-06 ENSE00001032994_003 ENSE00001032994 003 5 148691631 148691800 + 44 93 33 G A 148691648 1661 18 AGCTTCCCTGCCCACCCATTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312084 149312085 149312085 upstr_intron -27 -0.590909090909091 AGCTTCCCTGCCCACCCATTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 434 2829 1 0.998780019228333 0.999390009614167 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00862552460486798 0.0566140488404191 0.994475779290485 0.966770222891523 NA 0.0326197867226435 NA FALSE NA 0.001 0.296 . intron_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 8/8 1 NA CGT G,A 1.647e-05 5:149312085 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 intron_variant -0.085828 0.169 0.03101 0.048788 0.398672750629164 0.0979354 4.06878415314462e-08 FALSE 1.64606e-05 ENSE00001032994_004 ENSE00001032994 004 5 148691631 148691800 + 44 93 33 T C 148691659 1662 29 AGCTTCCCTGCCCACCCGTTCACAGCTGCGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312095 149312096 149312096 upstr_intron -16 -0.340909090909091 AGCTTCCCTGCCCACCCGTTCACAGCTGCGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 115 469 0.990695761879266 0.970243422532541 0.980469592205904 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.000678713515866125 0.0280774521446271 0.994475779290485 0.966770222891523 NA 0.0136993693143805 NA FALSE NA 0.003 0.896 . intron_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 8/8 rs373449769 1 NA C:0 C:0.0001 GTG T,C 8.236e-06 5:149312096 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 intron_variant 0.010115 0.28386 0.02719 0.048788 0.565566304412762 0.0979354 4.06878415314462e-08 FALSE 8.16713e-06 ENSE00001032994_006 ENSE00001032994 006 5 148691631 148691800 + 44 93 33 C G 148691681 1664 51 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCGGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312117 149312118 149312118 exon 7 0.0752688172043011 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCGGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 496 10 1 0.824640188481827 0.912320094240913 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00862552460486798 -0.117525781906088 0.994475779290485 0.966770222891523 NA -0.0544501286506099 NA FALSE NA 0.994 2.573 NA NA NA AFAP1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149312118 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 6.772804 0.9788 0.94006 0.722319 0.997236308551773 0 4.06878415314462e-08 FALSE 4.06851e-06 ENSE00001032994_007 ENSE00001032994 007 5 148691631 148691800 + 44 93 33 G A 148691682 1665 52 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCAAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312118 149312119 149312119 exon 8 0.0860215053763441 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCAAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 672 281 0.972896491457025 0.999436763590139 0.986166627523582 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.0184779839381075 0.0572707932022252 0.994475779290485 0.966770222891523 NA 0.0193964046320588 NA FALSE NA 0.991 2.914 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 rs544299473 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 4.118e-05 5:149312119 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 5.118172 0.97793 0.69307 0.722319 0.921283610777878 0 4.06878415314462e-08 FALSE 2.43986e-05 ENSE00001032994_008 ENSE00001032994 008 5 148691631 148691800 + 44 93 33 G A 148691684 1666 54 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAAAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312120 149312121 149312121 exon 10 0.10752688172043 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAAAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 456 49 0.989665355553125 1 0.994832677776563 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.00170911984200695 0.0578340296120857 0.994475779290485 0.966770222891523 NA 0.0280624548850394 NA FALSE NA 1 8.405 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 1 NA AGA G,A 8.236e-06 5:149312121 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 7.653811 0.99462 0.99424 0.722319 0.999231658776707 0 4.06878415314462e-08 FALSE 4.06521e-06 ENSE00001032994_009 ENSE00001032994 009 5 148691631 148691800 + 44 93 33 G A 148691699 1667 69 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAATTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312135 149312136 149312136 exon 25 0.268817204301075 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAATTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 14 362 1 0.996782440503046 0.998391220251523 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00862552460486798 0.0546164701151316 0.994475779290485 0.966770222891523 NA 0.0316209973599998 NA FALSE NA 0 -1.427 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149312136 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 0.144796 0.22045 0.02348 0.722319 0.89454702774886 0 4.06878415314462e-08 FALSE 4.06233e-06 ENSE00001032994_010 ENSE00001032994 010 5 148691631 148691800 + 44 93 33 G T 148691699 1668 69 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCATTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312135 149312136 149312136 exon 25 0.268817204301075 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCATTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 278 337 0.954071572406583 0.993734968444666 0.973903270425625 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.0373029029885489 0.0515689980567522 0.994475779290485 0.966770222891523 NA 0.00713304753410166 NA FALSE NA 0 -1.427 NA NA NA AFAP1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFAP1L1 NA NA NA ENSG00000157510 ENSE00001032994 missense_variant 0.064502 0.25113 0.05801 0.722319 0.967243317635301 0 4.06878415314462e-08 FALSE 4.06233e-06 ENSE00001032994_012 ENSE00001032994 012 5 148691631 148691800 + 44 93 33 G A 148691711 1670 81 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTAAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312147 149312148 149312148 exon 37 0.397849462365591 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTAAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 324 697 0.995994691963199 1 0.997997345981599 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00462021656806666 0.0578340296120857 0.994475779290485 0.966770222891523 NA 0.0312271230900762 NA FALSE NA 0.416 2.702 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 rs370346755 1 NA A:0 A:0.0001 TGA G,A 1.647e-05 5:149312148 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 0.90445 0.41133 0.71464 0.722319 0.946658773687291 0 4.06878415314462e-08 FALSE 4.06167e-06 ENSE00001032994_013 ENSE00001032994 013 5 148691631 148691800 + 44 93 33 G C 148691720 1671 90 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGCAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312156 149312157 149312157 exon 46 0.494623655913978 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGCAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 179 759 0.992892028102178 0.989169329386669 0.991030678744424 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00151755270704645 0.0470033589987549 0.994475779290485 0.966770222891523 NA 0.0242604558529007 NA FALSE NA 1 7.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149312157 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 1.184309 0.98934 0.99201 0.722319 0.534274700348013 0 4.06878415314462e-08 FALSE 1.21843e-05 ENSE00001032994_014 ENSE00001032994 014 5 148691631 148691800 + 44 93 33 G A 148691720 1672 90 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGAAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312156 149312157 149312157 exon 46 0.494623655913978 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGAAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 42 643 1 0.996429769669899 0.998214884834949 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00862552460486798 0.0542637992819847 0.994475779290485 0.966770222891523 NA 0.0314446619434263 NA FALSE NA 1 7.77 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFAP1L1 NA NA NA ENSG00000157510 ENSE00001032994 missense_variant 3.668878 0.98899 0.99047 0.722319 0.997178873154995 0 4.06878415314462e-08 FALSE 1.21843e-05 ENSE00001032994_015 ENSE00001032994 015 5 148691631 148691800 + 44 93 33 C T 148691726 1673 96 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCTCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312162 149312163 149312163 exon -42 0.559139784946237 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCTCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 123 166 1 0.96807776573325 0.984038882866625 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00862552460486798 0.0259117953453354 0.994475779290485 0.966770222891523 NA 0.0172686599751017 NA FALSE NA 0.989 4.595 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149312163 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 1.46883 0.9836 0.90291 0.722319 0.968248620736959 0 4.06878415314462e-08 FALSE 0.000223377 ENSE00001032994_016 ENSE00001032994 016 5 148691631 148691800 + 44 93 33 C G 148691726 1674 96 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCGCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312162 149312163 149312163 exon -42 0.559139784946237 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCGCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 451 657 0.995725409232485 0.997946498168771 0.996835953700628 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00435093383735341 0.0557805277808567 0.994475779290485 0.966770222891523 NA 0.0300657308091051 NA FALSE NA 0.989 4.595 NA NA NA AFAP1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFAP1L1 NA NA NA ENSG00000157510 ENSE00001032994 missense_variant 2.854059 0.98575 0.97505 0.722319 0.94504694928302 0 4.06878415314462e-08 FALSE 4.06141e-06 ENSE00001032994_017 ENSE00001032994 017 5 148691631 148691800 + 44 93 33 C T 148691736 1675 106 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCTAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312172 149312173 149312173 exon -32 0.666666666666667 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCTAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 1317 766 0.990426560974241 1 0.99521328048712 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.000947914420891482 0.0578340296120857 0.994475779290485 0.966770222891523 NA 0.0284430575955971 NA FALSE NA 1 6.665 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 1 NA CCA C,T 4.118e-05 5:149312173 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 6.128531 0.99469 0.99178 0.722319 0.998132012631012 0 4.06878415314462e-08 FALSE 4.46726e-05 ENSE00001032994_018 ENSE00001032994 018 5 148691631 148691800 + 44 93 33 G T 148691738 1676 108 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCATTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312174 149312175 149312175 exon -30 0.688172043010753 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCATTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 457 533 0.830435946175881 1 0.915217973087941 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.160938529219251 0.0578340296120857 0.994475779290485 0.966770222891523 NA -0.0515522498035825 NA FALSE NA 0.107 1.363 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 1 NA AGT G,T 8.236e-06 5:149312175 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 0.749648 0.26389 0.27823 0.722319 0.988751650558549 0 4.06878415314462e-08 FALSE 4.06111e-06 ENSE00001032994_019 ENSE00001032994 019 5 148691631 148691800 + 44 93 33 C T 148691741 1677 111 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCTTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312177 149312178 149312178 exon -27 0.720430107526882 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCTTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 126 234 1 0.926654949511707 0.963327474755853 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00862552460486798 -0.0155110208762076 0.994475779290485 0.966770222891523 NA -0.0034427481356698 NA FALSE NA 0.483 0.868 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 COSM1542745 1 NA CCT C,T 3.295e-05 5:149312178 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 0.301192 0.26941 0.26967 0.722319 0.919983240616773 0 4.06878415314462e-08 FALSE 2.03052e-05 ENSE00001032994_020 ENSE00001032994 020 5 148691631 148691800 + 44 93 33 A G 148691757 1678 127 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGGCCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312193 149312194 149312194 exon -11 0.89247311827957 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGGCCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 482 557 0.982148340086438 0.962425001336487 0.972286670711463 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.00922613530869443 0.0202590309485732 0.994475779290485 0.966770222891523 NA 0.00551644781993937 NA FALSE NA 1 7.885 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 1 NA GAC A,G 8.236e-06 5:149312194 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 6.101541 0.99332 0.99586 0.722319 0.998549222604281 0 4.06878415314462e-08 FALSE 8.12236e-06 ENSE00001032994_021 ENSE00001032994 021 5 148691631 148691800 + 44 93 33 G C 148691762 1679 132 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGCACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312198 149312199 149312199 exon -6 0.946236559139785 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGCACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 1227 197 0.996120532552928 0.990371797308193 0.99324616493056 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00474605715779608 0.0482058269202783 0.994475779290485 0.966770222891523 NA 0.0264759420390372 NA FALSE NA 1 8.329 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 rs369801283 1 C:0.0022 C:0 C:0 NA C:0 C:0 C:0.0112 GGA G,C 0.001268 5:149312199 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 missense_variant 5.85978 0.99519 0.99685 0.722319 0.995014850658697 0 4.06878415314462e-08 FALSE 0.00116957 ENSE00001032994_022 ENSE00001032994 022 5 148691631 148691800 + 44 93 33 T C 148691769 1680 139 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGCATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312205 149312206 149312206 downstr_intron 2 1.0625 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGCATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 370 73 0.00132371376174491 0.00697006890742994 0.00414689133458743 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.990050761633387 -0.935195901480484 0.994475779290485 0.966770222891523 NA -0.962623331556936 NA TRUE NA 1 6.792 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 1 NA GTA T,C 8.236e-06 5:149312206 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 splice_donor_variant 4.612607 0.99296 0.99408 0 0.994293427013911 0.972791 4.06878415314462e-08 FALSE 4.06161e-06 ENSE00001032994_023 ENSE00001032994 023 5 148691631 148691800 + 44 93 33 A G 148691770 1681 140 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTGTATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312206 149312207 149312207 downstr_intron 3 1.09375 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTGTATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 1259 149 0.0359085261045701 0.00557835145098884 0.0207434387777795 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.955465949290562 -0.936587618936925 0.994475779290485 0.966770222891523 NA -0.946026784113744 NA TRUE NA 0.996 3.885 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 rs377592650 1 NA G:0 G:0.0003 TAT A,G 8.236e-05 5:149312207 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 splice_region_variant 1.328705 0.97822 0.53834 0 0.85330505384932 0.825485 4.06878415314462e-08 FALSE 6.49825e-05 ENSE00001032994_024 ENSE00001032994 024 5 148691631 148691800 + 44 93 33 C G 148691780 1682 150 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTGCACTAAGTCTTCCCCAGGCC 149312067 149312237 149312216 149312217 149312217 downstr_intron 13 1.40625 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTGCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 178 146 0.98466047726189 0.992340549273329 0.98850051326761 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA -0.00671399813324181 0.050174578885415 0.994475779290485 0.966770222891523 NA 0.0217302903760866 NA FALSE NA 0.178 0.378 rs143995508 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 rs143995508 1 G:0.0014 G:0.0053 G:0 NA G:0 G:0 G:0 G:0.0032 G:0 TCC C,G 0.0002389 5:149312217 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 non_coding_transcript_exon_variant 0.77867 0.338 0.09662 0 0.685635741958171 0.156508 4.06878415314462e-08 FALSE 0.00021933 ENSE00001032994_025 ENSE00001032994 025 5 148691631 148691800 + 44 93 33 G T 148691787 1683 157 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAATTCTTCCCCAGGCC 149312067 149312237 149312223 149312224 149312224 downstr_intron 20 1.625 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAATTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 627 478 0.996698981902055 1 0.998349490951028 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.0053245065069234 0.0578340296120857 0.994475779290485 0.966770222891523 NA 0.0315792680595046 NA FALSE NA 0.128 1.414 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 1 NA AGT G,T 0.0001071 5:149312224 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 non_coding_transcript_exon_variant 0.359196 0.26431 0.22249 0 0.695911242443035 0.046875 4.06878415314462e-08 FALSE 8.93735e-05 ENSE00001032994_026 ENSE00001032994 026 5 148691631 148691800 + 44 93 33 C T 148691789 1684 159 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTTTTCCCCAGGCC 149312067 149312237 149312225 149312226 149312226 downstr_intron 22 1.6875 AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTTTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC mutant NA NA NA NA NA 738 119 1 0.998668654184857 0.999334327092429 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 NA NA 0.00862552460486798 0.056502683796943 0.994475779290485 0.966770222891523 NA 0.0325641042009055 NA FALSE NA 0 -1.591 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AFAP1L1 HGNC 26714 ENST00000455574 9/9 rs200632989 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCT C,T 8.236e-06 5:149312226 AFAP1L1 HGNC Symbol protein_coding 69931 ENSG00000157510 ENSE00001032994 non_coding_transcript_exon_variant 0.727199 0.1654 0.0302 0 0.662934298091817 0.046875 4.06878415314462e-08 FALSE 4.0624e-06 ENSE00001032994_BRK ENSE00001032994 BRK 5 148691631 148691800 + 44 93 33 A,G; T,T NA NA NA AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACTTGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGCCATATCTGTCTCCACTAAGTCTTCCCCAGGCC 149312067 149312237 NA NA NA NA NA NA AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACTTGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGCCATATCTGTCTCCACTAAGTCTTCCCCAGGCC AGCTTCCCTGCCCACCCGTTCACAGCTGTGTGTCCTCTTCACAGGTCATCCGAGAAGTGAGCAAGCCAGTTGGGGGAGCTGAGGGAGTGGAGGTCCCCAGATCCCCAGTCCTCCTGTGCAAGTTGGACCTGGACAAGGTATATCTGTCTCCACTAAGTCTTCCCCAGGCC control 1089 616 0.0120431301707211 0.00105591996946534 0.00654952507009323 NA NA NA NA NA 0.995540484017374 0.993411074563595 0.991374475395132 0.942165970387914 -0.983497353846653 -0.99235515459413 NA NA 0.994475779290485 0.966770222891523 -0.987926254220391 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001032994 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00001033448_000 ENSE00001033448 000 11 44948177 44948346 + 48 84 38 NA NA NA NA NA GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 NA NA NA NA NA NA GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG natural 106 111 0.990938794031892 0.989643565658231 0.990291179845062 1763 3635 0.921123136829872 0.838531381090311 0.879827258960092 0.990938794031892 0.989643565658231 0.921123136829872 0.838531381090311 0 0 0 0 0.990291179845062 0.879827258960092 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003610170 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001033448_004 ENSE00001033448 004 11 44948177 44948346 + 48 84 38 A T 44948195 1114 19 GGACTCTCAACCCTGGCCTTAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926643 44926644 44926644 upstr_intron -30 -0.604166666666667 GGACTCTCAACCCTGGCCTTAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant NA NA NA NA NA 1169 2027 0.991676801268391 0.956345583101762 0.974011192185076 0.990938794031892 0.989643565658231 0.921123136829872 0.838531381090311 NA NA 0.0705536644385191 0.11781420201145 0.990291179845062 0.879827258960092 NA 0.0941839332249846 NA FALSE NA 0 -0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003610170 non_coding_transcript_exon_variant -0.017803 0.3442 0.01825 0.162113 0.532537656939023 0.046875 0.454891016173085 FALSE 4.07087e-06 ENSE00001033448_024 ENSE00001033448 024 11 44948177 44948346 + 48 84 38 G A 44948291 1134 115 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCAGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926739 44926740 44926740 exon -18 0.797619047619048 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCAGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 71 31 0.970862084324736 0.981529165800681 0.976195625062708 202 777 0.991773549079249 0.994830299157722 0.993301924118485 0.990938794031892 0.989643565658231 0.921123136829872 0.838531381090311 -0.0200767097071567 -0.00811439985754969 0.0706504122493774 0.15629891806741 0.990291179845062 0.879827258960092 -0.0140955547823532 0.113474665158394 0.127570219940747 FALSE FALSE 1 8.8 NA NA NA TSPAN18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN18 NA NA NA ENSG00000157570 ENSE00003610170 missense_variant 5.611823 0.97116 0.96567 0.743674 0.99833836610496 0 0.161860431497711 FALSE 1.62463e-05 ENSE00001033448_BRK ENSE00001033448 BRK 11 44948177 44948346 + 48 84 38 A,G; T,T NA NA NA GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCTTGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGCCAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 NA NA NA NA NA NA GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCTTGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGCCAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG control 1006 1083 0 0.00481129782112731 0.00240564891056365 401 663 0.0107001499644222 0.123893696650016 0.067296923307219 0.990938794031892 0.989643565658231 0.921123136829872 0.838531381090311 -0.990938794031892 -0.984832267837104 -0.910422986865449 -0.714637684440296 0.990291179845062 0.879827258960092 -0.987885530934498 -0.812530335652873 0.175355195281625 TRUE TRUE NA NA NA NA NA TSPAN18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN18 NA NA NA ENSG00000157570 ENSE00003610170 NA NA NA NA NA NA NA 0.161860431497711 FALSE NA ENSE00001034205_000 ENSE00001034205 000 11 47657031 47657200 - 66 27 77 NA NA NA NA NA AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 NA NA NA NA NA NA AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC natural 158 274 0.843030374217258 0.837874383135316 0.840452378676287 2985 2269 0.954593220444262 0.951589239370216 0.953091229907239 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 0 0 0 0 0.840452378676287 0.953091229907239 0 0 0 FALSE FALSE NA NA NA NA NA MTCH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTCH2 NA NA NA ENSG00000109919 ENSE00003488685 NA NA NA NA NA NA NA 0.166788403447163 FALSE NA ENSE00001034205_001 ENSE00001034205 001 11 47657031 47657200 - 66 27 77 C A 47657055 1198 146 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTTCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635502 47635503 47635503 downstr_intron 42 1.64615384615385 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTTCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant 24 33 0.85 0.85 0.85 NA NA NA NA NA 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 0.00696962578274185 0.0121256168646836 NA NA 0.840452378676287 0.953091229907239 0.00954762132371273 NA NA NA FALSE 0 -0.002 . intron_variant&non_coding_transcript_variant MODIFIER MTCH2 HGNC 17587 ENST00000533571 4/5 1 NA GCA C,A 3.295e-05 11:47635503 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 intron_variant 0.496658 0.22061 0.20901 0.156188 0.70575090889659 0.0773124 0.166788403447163 FALSE 1.63116e-05 ENSE00001034205_005 ENSE00001034205 005 11 47657031 47657200 - 66 27 77 A T 47657084 1202 117 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCAGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635531 47635532 47635532 downstr_intron 13 1.2 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCAGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant NA NA NA NA NA 498 950 0.793253500773294 0.802433205317153 0.797843353045223 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 NA NA -0.161339719670968 -0.149156034053063 0.840452378676287 0.953091229907239 NA -0.155247876862016 NA FALSE NA 0 -0.157 . intron_variant&non_coding_transcript_variant MODIFIER MTCH2 HGNC 17587 ENST00000533571 4/5 rs373052204 1 NA T:0 T:0.0001 CAG A,T 8.236e-06 11:47635532 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 intron_variant 0.556035 0.23126 0.07419 0.295142 0.760044241555228 0.0744336 0.166788403447163 FALSE 4.06458e-06 ENSE00001034205_006 ENSE00001034205 006 11 47657031 47657200 - 66 27 77 C T 47657101 1203 100 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGATGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635548 47635549 47635549 exon -5 0.851851851851852 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGATGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant NA NA NA NA NA 255 96 1 0.999602587731559 0.999801293865779 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 NA NA 0.0454067795557379 0.0480133483613425 0.840452378676287 0.953091229907239 NA 0.0467100639585402 NA FALSE NA 0 -0.035 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTCH2 HGNC 17587 ENST00000533571 4/6 rs558556021 1 NA ACC C,T 4.942e-05 11:47635549 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 missense_variant 1.045529 0.37793 0.04705 0.706548 0.718117455910337 0 0.166788403447163 FALSE 4.47038e-05 ENSE00001034205_007 ENSE00001034205 007 11 47657031 47657200 - 66 27 77 G C 47657118 1204 83 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTAGCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635565 47635566 47635566 exon 6 0.222222222222222 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTAGCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant 107 202 0 0 0 98 11 0.00392629641501113 0 0.00196314820750556 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 -0.843030374217258 -0.837874383135316 -0.950666924029251 -0.951589239370216 0.840452378676287 0.953091229907239 -0.840452378676287 -0.951128081699734 0.110675703023446 TRUE TRUE 1 2.874 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTCH2 HGNC 17587 ENST00000533571 4/6 1 NA GGT G,C 8.236e-06 11:47635566 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 stop_gained 11.041322 0.97599 0.95354 0.706548 0.996484429214934 0 0.166788403447163 FALSE 4.06911e-06 ENSE00001034205_009 ENSE00001034205 009 11 47657031 47657200 - 66 27 77 C G 47657124 1206 77 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATACCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635571 47635572 47635572 upstr_intron -1 0 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATACCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant NA NA NA NA NA 211 322 0 0 0 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 NA NA -0.954593220444262 -0.951589239370216 0.840452378676287 0.953091229907239 NA -0.953091229907239 NA TRUE NA 1 4.264 . splice_acceptor_variant&non_coding_transcript_variant HIGH MTCH2 HGNC 17587 ENST00000533571 3/5 COSM927471 1 NA GCT C,G 8.236e-06 11:47635572 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 splice_acceptor_variant 5.216916 0.98727 0.97927 0.295142 0.990809638818728 0.964957 0.166788403447163 FALSE 8.14983e-06 ENSE00001034205_010 ENSE00001034205 010 11 47657031 47657200 - 66 27 77 T C 47657125 1207 76 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATGGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635572 47635573 47635573 upstr_intron -2 -0.012987012987013 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATGGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant 53 59 0 0 0 140 706 0.00350635147318849 0.125262387478302 0.0643843694757452 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 -0.843030374217258 -0.837874383135316 -0.951086868971074 -0.826326851891914 0.840452378676287 0.953091229907239 -0.840452378676287 -0.888706860431494 0.0482544817552066 TRUE TRUE 1 4.377 . splice_acceptor_variant&non_coding_transcript_variant HIGH MTCH2 HGNC 17587 ENST00000533571 3/5 1 NA CTA T,C 8.237e-06 11:47635573 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 splice_acceptor_variant 4.773589 0.9845 0.97508 0.295142 0.984074243593852 0.943938 0.166788403447163 FALSE 4.07551e-06 ENSE00001034205_011 ENSE00001034205 011 11 47657031 47657200 - 66 27 77 T C 47657127 1208 74 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTGTAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635574 47635575 47635575 upstr_intron -4 -0.038961038961039 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTGTAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant NA NA NA NA NA 104 874 0.590606036626382 0.675734885347318 0.63317046098685 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 NA NA -0.36398718381788 -0.275854354022898 0.840452378676287 0.953091229907239 NA -0.319920768920389 NA FALSE NA 0 -2.058 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MTCH2 HGNC 17587 ENST00000533571 3/5 1 NA ATA T,C 3.295e-05 11:47635575 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 splice_region_variant 0.697663 0.08661 0.00367 0.295142 0.601512505822507 0.176565 0.166788403447163 FALSE 2.03947e-05 ENSE00001034205_013 ENSE00001034205 013 11 47657031 47657200 - 66 27 77 A T 47657140 1210 61 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTATTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635587 47635588 47635588 upstr_intron -17 -0.207792207792208 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTATTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant NA NA NA NA NA 25 262 0.0156717709353652 0.190536763339988 0.103104267137676 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 NA NA -0.938921449508897 -0.761052476030229 0.840452378676287 0.953091229907239 NA -0.849986962769563 NA TRUE NA 0.006 1.313 . intron_variant&non_coding_transcript_variant MODIFIER MTCH2 HGNC 17587 ENST00000533571 3/5 rs565033167 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 AAA A,T 2.471e-05 11:47635588 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 intron_variant 0.002231 0.19408 0.27785 0.099367 0.733966048220857 0.0491221 0.166788403447163 FALSE 3.67689e-05 ENSE00001034205_015 ENSE00001034205 015 11 47657031 47657200 - 66 27 77 A C 47657162 1212 39 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACGGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635609 47635610 47635610 upstr_intron -39 -0.493506493506494 AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACGGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant NA NA NA NA NA 321 230 0.972471637663799 0.952206861965209 0.962339249814504 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 NA NA 0.0178784172195368 0.000617622594992873 0.840452378676287 0.953091229907239 NA 0.00924801990726482 NA FALSE NA 0 0.763 . intron_variant&non_coding_transcript_variant MODIFIER MTCH2 HGNC 17587 ENST00000533571 3/5 1 NA CAG A,C 8.238e-06 11:47635610 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 intron_variant -0.159252 0.17355 0.12992 0.099367 0.580425938184978 0.0889879 0.166788403447163 FALSE 4.25942e-06 ENSE00001034205_016 ENSE00001034205 016 11 47657031 47657200 - 66 27 77 T C 47657169 1213 32 AGTAGAGTTTTCATTTTATGTCTTCTTTCACGTGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 47635616 47635617 47635617 upstr_intron -46 -0.584415584415584 AGTAGAGTTTTCATTTTATGTCTTCTTTCACGTGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC mutant NA NA NA NA NA 185 188 0.965809962029802 0.971900501512715 0.968855231771258 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 NA NA 0.0112167415855395 0.0203112621424991 0.840452378676287 0.953091229907239 NA 0.0157640018640193 NA FALSE NA 0 -1.549 . intron_variant&non_coding_transcript_variant MODIFIER MTCH2 HGNC 17587 ENST00000533571 3/5 1 NA ATG T,C 9.886e-05 11:47635617 MTCH2 HGNC Symbol protein_coding 25308 ENSG00000109919 ENSE00003488685 intron_variant 0.007314 0.09452 0.01819 0.099367 0.626916349599777 0.0491221 0.166788403447163 FALSE 7.74067e-05 ENSE00001034205_BRK ENSE00001034205 BRK 11 47657031 47657200 - 66 27 77 A,G; T,T NA NA NA AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATTTCATTACCAGGAGAGTGACAAGGGTGAGCCATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC 47635478 47635648 NA NA NA NA NA NA AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATTTCATTACCAGGAGAGTGACAAGGGTGAGCCATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC AGTAGAGTTTTCATTTTATGTCTTCTTTCACATGACACTGTAATAACCCTAATCATCCTTTTTCTTTTTTTCTATAGCATTACCAGGAGAGTGACAAGGGTGAGGTATGTTGGAGCTGATTTCTAAGCATGAGGGCCTTTCCCTTGCAAGTTGTTACTGCTTTTGGGGCC control 67 32 0.85 0.85 0.85 122 16 0.951824830567679 0.95 0.95091241528384 0.843030374217258 0.837874383135316 0.954593220444262 0.951589239370216 0.00696962578274196 0.0121256168646836 -0.00276838987658268 -0.00158923937021616 0.840452378676287 0.953091229907239 0.00954762132371278 -0.00217881462339942 0.0117264359471122 FALSE FALSE NA NA NA NA NA MTCH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTCH2 NA NA NA ENSG00000109919 ENSE00003488685 NA NA NA NA NA NA NA 0.166788403447163 FALSE NA ENSE00001034347_000 ENSE00001034347 000 9 117064285 117064454 + 77 27 66 NA NA NA NA NA CCCTGGTCTCCTGACACCCTCTCAGATTCCAGCACACTGTCCCTGTCATTTGACTGACCCGCAGTCTTCTTTTGCAGGGTCCTCCAGGGGGTCCTATCCAATTGGTAAGTTGGAAACCTTCTCTTTTGCCTACTTGGGGTAAGGCCTGAGGGGTTTGGGGGAAGAGGCTG 114302004 114302174 NA NA NA NA NA NA CCCTGGTCTCCTGACACCCTCTCAGATTCCAGCACACTGTCCCTGTCATTTGACTGACCCGCAGTCTTCTTTTGCAGGGTCCTCCAGGGGGTCCTATCCAATTGGTAAGTTGGAAACCTTCTCTTTTGCCTACTTGGGGTAAGGCCTGAGGGGTTTGGGGGAAGAGGCTG CCCTGGTCTCCTGACACCCTCTCAGATTCCAGCACACTGTCCCTGTCATTTGACTGACCCGCAGTCTTCTTTTGCAGGGTCCTCCAGGGGGTCCTATCCAATTGGTAAGTTGGAAACCTTCTCTTTTGCCTACTTGGGGTAAGGCCTGAGGGGTTTGGGGGAAGAGGCTG natural 125 90 0.997901092513115 0.998995663353309 0.998448377933212 292 749 0.998867021547323 0.978705804566412 0.988786413056868 0.997901092513115 0.998995663353309 0.998867021547323 0.978705804566412 0 0 0 0 0.998448377933212 0.988786413056868 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003473069 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00001034347_BRK ENSE00001034347 BRK 9 117064285 117064454 + 77 27 66 A,G; T,T NA NA NA CCCTGGTCTCCTGACACCCTCTCAGATTCCAGCACACTGTCCCTGTCATTTGACTGACCCGCAGTCTTCTTTTGCTTGGTCCTCCAGGGGGTCCTATCCAATTGCCAAGTTGGAAACCTTCTCTTTTGCCTACTTGGGGTAAGGCCTGAGGGGTTTGGGGGAAGAGGCTG 114302004 114302174 NA NA NA NA NA NA CCCTGGTCTCCTGACACCCTCTCAGATTCCAGCACACTGTCCCTGTCATTTGACTGACCCGCAGTCTTCTTTTGCTTGGTCCTCCAGGGGGTCCTATCCAATTGCCAAGTTGGAAACCTTCTCTTTTGCCTACTTGGGGTAAGGCCTGAGGGGTTTGGGGGAAGAGGCTG CCCTGGTCTCCTGACACCCTCTCAGATTCCAGCACACTGTCCCTGTCATTTGACTGACCCGCAGTCTTCTTTTGCAGGGTCCTCCAGGGGGTCCTATCCAATTGGTAAGTTGGAAACCTTCTCTTTTGCCTACTTGGGGTAAGGCCTGAGGGGTTTGGGGGAAGAGGCTG control 178 40 0.0147193591864881 0 0.00735967959324404 NA NA NA NA NA 0.997901092513115 0.998995663353309 0.998867021547323 0.978705804566412 -0.983181733326627 -0.998995663353309 NA NA 0.998448377933212 0.988786413056868 -0.991088698339968 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003473069 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001034359_000 ENSE00001034359 000 7 137293682 137293851 - 30 99 41 NA NA NA NA NA CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 NA NA NA NA NA NA CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG natural 88 124 0.975133269752868 0.979121275548468 0.977127272650668 6378 5079 0.907845541188364 0.936895565577779 0.922370553383071 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 0 0 0 0 0.977127272650668 0.922370553383071 0 0 0 FALSE FALSE NA NA NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00001034359 NA NA NA NA NA NA NA 0.738016171796638 FALSE NA ENSE00001034359_001 ENSE00001034359 001 7 137293682 137293851 - 30 99 41 A T 137293696 2692 156 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCAAGATTTTCAACTTAG 137608935 137609105 137608949 137608950 137608950 downstr_intron 16 1.55172413793103 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCAAGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 2124 774 0.993067586335445 0.973032463249284 0.983050024792364 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0852220451470814 0.0361368976715046 0.977127272650668 0.922370553383071 NA 0.060679471409293 NA FALSE NA 0 0.219 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 10/33 1 NA CAT A,T 1.648e-05 7:137608950 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 intron_variant -0.03632 0.2791 0.14545 0.06567 0.532751359204962 0.151315 0.738016171796638 FALSE 4.0834e-06 ENSE00001034359_002 ENSE00001034359 002 7 137293682 137293851 - 30 99 41 T C 137293697 2693 155 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCGTGATTTTCAACTTAG 137608935 137609105 137608950 137608951 137608951 downstr_intron 15 1.51724137931034 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCGTGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 296 498 0.999481896491284 1 0.999740948245642 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0916363553029204 0.0631044344222208 0.977127272650668 0.922370553383071 NA 0.0773703948625706 NA FALSE NA 0 0.054 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 10/33 1 NA ATG T,C 1.648e-05 7:137608951 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 intron_variant -0.006595 0.22789 0.09147 0.06567 0.581080841092761 0.151315 0.738016171796638 FALSE 2.44966e-05 ENSE00001034359_003 ENSE00001034359 003 7 137293682 137293851 - 30 99 41 C T 137293711 2694 141 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGATGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137608964 137608965 137608965 downstr_intron 1 1.03448275862069 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGATGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 1640 5308 0.00440391399852883 0.00611895921471121 0.00526143660662002 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA -0.903441627189835 -0.930776606363068 0.977127272650668 0.922370553383071 NA -0.917109116776451 NA TRUE NA 1 6.764 . splice_donor_variant HIGH DGKI HGNC 2855 ENST00000288490 10/33 1 NA HC ACC C,T 8.237e-06 7:137608965 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 splice_donor_variant 5.649803 0.99125 0.97088 0.06567 0.995224109687236 0.985175 0.738016171796638 FALSE NA ENSE00001034359_004 ENSE00001034359 004 7 137293682 137293851 - 30 99 41 C T 137293712 2695 140 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAAGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137608965 137608966 137608966 exon -1 1 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAAGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 330 1124 0.994423830115898 0.996547540628574 0.995485685372236 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0865782889275345 0.0596519750507946 0.977127272650668 0.922370553383071 NA 0.0731151319891645 NA FALSE NA 1 6.764 . splice_region_variant&synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 10/34 1 NA CCT C,T 8.237e-06 7:137608966 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 splice_region_variant 1.935832 0.99125 0.97088 0.497415 0.934663093986905 0 0.738016171796638 FALSE 4.07309e-06 ENSE00001034359_006 ENSE00001034359 006 7 137293682 137293851 - 30 99 41 A C 137293739 2697 113 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTGGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137608992 137608993 137608993 exon -28 0.727272727272727 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTGGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 822 1552 0.978820164795595 0.999260956529699 0.989040560662647 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0709746236072314 0.0623653909519198 0.977127272650668 0.922370553383071 NA 0.0666700072795756 NA FALSE NA 1 2.905 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 10/34 rs200718569 1 deleterious(0.02) probably_damaging(0.996) NA CAA A,C 8.236e-06 7:137608993 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 missense_variant 5.722305 0.97736 0.91369 0.516011 0.998655690219823 0 0.738016171796638 FALSE 8.13557e-06 ENSE00001034359_007 ENSE00001034359 007 7 137293682 137293851 - 30 99 41 C T 137293757 2698 95 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATAAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609010 137609011 137609011 exon -46 0.545454545454545 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATAAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 557 2040 1 0.994586929462007 0.997293464731003 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0921544588116364 0.0576913638842275 0.977127272650668 0.922370553383071 NA 0.0749229113479319 NA FALSE NA 1 6.764 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 10/34 rs565416498 1 tolerated(0.14) benign(0.391) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TCA C,T 8.236e-06 7:137609011 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 missense_variant 3.586252 0.99125 0.97088 0.516011 0.98829608322618 0 0.738016171796638 FALSE 4.06712e-06 ENSE00001034359_008 ENSE00001034359 008 7 137293682 137293851 - 30 99 41 A G 137293763 2699 89 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCCCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609016 137609017 137609017 exon 48 0.484848484848485 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCCCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 135 391 1 0.999119172769955 0.999559586384978 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0921544588116364 0.0622236071921761 0.977127272650668 0.922370553383071 NA 0.0771890330019063 NA FALSE NA 0.002 -0.821 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 10/34 1 NA GAG A,G 8.236e-06 7:137609017 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 synonymous_variant 0.442771 0.96536 0.15741 0.516011 0.71780678770258 0 0.738016171796638 FALSE 4.06716e-06 ENSE00001034359_009 ENSE00001034359 009 7 137293682 137293851 - 30 99 41 G A 137293770 2700 82 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTTTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609023 137609024 137609024 exon 41 0.414141414141414 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTTTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 280 2945 0.996114794103387 0.98822385870413 0.992169326403759 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0882692529150232 0.0513282931263512 0.977127272650668 0.922370553383071 NA 0.0697987730206872 NA FALSE NA 1 8.564 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 10/34 1 deleterious(0) possibly_damaging(0.878) NA AGA G,A 8.236e-06 7:137609024 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 missense_variant 6.72315 0.99149 0.98293 0.516011 0.998373390310922 0 0.738016171796638 FALSE 4.06808e-06 ENSE00001034359_010 ENSE00001034359 010 7 137293682 137293851 - 30 99 41 T C 137293774 2701 78 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCGTCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609027 137609028 137609028 exon 37 0.373737373737374 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCGTCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 631 381 0.999608025953333 1 0.999804012976667 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0917624847649694 0.0631044344222208 0.977127272650668 0.922370553383071 NA 0.0774334595935951 NA FALSE NA 0.994 3.41 rs142980076 missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 10/34 rs142980076 1 tolerated(0.19) benign(0.003) C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0011 C:0 ATG T,C 0.0001071 7:137609028 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 missense_variant 1.792045 0.96201 0.84494 0.516011 0.984882806534931 0 0.738016171796638 FALSE 9.76467e-05 ENSE00001034359_011 ENSE00001034359 011 7 137293682 137293851 - 30 99 41 C T 137293794 2702 58 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCATCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609047 137609048 137609048 exon 17 0.171717171717172 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCATCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 518 178 0.992126288412203 0.967191348534628 0.979658818473415 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0842807472238389 0.0302957829568491 0.977127272650668 0.922370553383071 NA 0.057288265090344 NA FALSE NA 1 6.555 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 10/34 1 deleterious(0) probably_damaging(0.998) NA ACG C,T 3.295e-05 7:137609048 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 missense_variant 8.051625 0.99125 0.99158 0.516011 0.999207437426434 0 0.738016171796638 FALSE 4.88587e-05 ENSE00001034359_012 ENSE00001034359 012 7 137293682 137293851 - 30 99 41 G A 137293795 2703 57 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTTGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609048 137609049 137609049 exon 16 0.161616161616162 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTTGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 2300 273 0.996702709473401 0.992777694123814 0.994740201798608 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0888571682850379 0.0558821285460347 0.977127272650668 0.922370553383071 NA 0.0723696484155363 NA FALSE NA 1 6.375 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 10/34 COSM3633791&COSM3633792&COSM3633793 1 deleterious(0.01) probably_damaging(0.998) NA CGA G,A 8.236e-06 7:137609049 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 missense_variant 7.727801 0.98492 0.98702 0.516011 0.999176105878789 0 0.738016171796638 FALSE 4.07219e-06 ENSE00001034359_013 ENSE00001034359 013 7 137293682 137293851 - 30 99 41 G A 137293802 2704 50 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAATAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609055 137609056 137609056 exon 9 0.0909090909090909 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAATAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 1927 574 0.974319480092914 0.995263597610165 0.984791538851539 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.06647393890455 0.0583680320323854 0.977127272650668 0.922370553383071 NA 0.0624209854684677 NA FALSE NA 1 2.379 rs138563101 synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 10/34 rs138563101&COSM244019 1 NA A:0.0007 A:0 TGT G,A 3.295e-05 7:137609056 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 synonymous_variant 0.850848 0.97716 0.73845 0.516011 0.645853985270237 0 0.738016171796638 FALSE 2.44381e-05 ENSE00001034359_014 ENSE00001034359 014 7 137293682 137293851 - 30 99 41 C T 137293808 2705 44 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAAGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609061 137609062 137609062 exon 3 0.0303030303030303 CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAAGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 291 145 0.980478107797366 0.967377362594632 0.973927735195999 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.072632566609002 0.0304817970168525 0.977127272650668 0.922370553383071 NA 0.0515571818129272 NA FALSE NA 1 4.873 . splice_region_variant&synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 10/34 1 NA CCT C,T 3.295e-05 7:137609062 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 splice_region_variant 1.953349 0.99125 0.9817 0.516011 0.934830627965575 0 0.738016171796638 FALSE 2.44495e-05 ENSE00001034359_015 ENSE00001034359 015 7 137293682 137293851 - 30 99 41 A G 137293826 2706 26 CCATGGATGTGTATCCTAACAGTGCCGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609079 137609080 137609080 upstr_intron -16 -0.365853658536585 CCATGGATGTGTATCCTAACAGTGCCGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 183 2162 1 0.86850754477377 0.934253772386885 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0921544588116364 -0.0683880208040087 0.977127272650668 0.922370553383071 NA 0.0118832190038138 NA FALSE NA 0.005 1.791 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 9/33 1 NA CAG A,G 8.237e-06 7:137609080 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 intron_variant -0.073237 0.24602 0.13155 0.06567 0.71218247816145 0.0946271 0.738016171796638 FALSE 1.63403e-05 ENSE00001034359_016 ENSE00001034359 016 7 137293682 137293851 - 30 99 41 C T 137293830 2707 22 CCATGGATGTGTATCCTAACAATGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609083 137609084 137609084 upstr_intron -20 -0.463414634146341 CCATGGATGTGTATCCTAACAATGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 456 658 0.999909716613441 0.998717345402353 0.999313531007897 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0920641754250777 0.0618217798245737 0.977127272650668 0.922370553383071 NA 0.0769429776248257 NA FALSE NA 0 0.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:137609084 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 intron_variant 0.002013 0.23051 0.02015 0.06567 0.564579084894574 0.0448725 0.738016171796638 FALSE 0.000948914 ENSE00001034359_017 ENSE00001034359 017 7 137293682 137293851 - 30 99 41 C A 137293830 2708 22 CCATGGATGTGTATCCTAACATTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609083 137609084 137609084 upstr_intron -20 -0.463414634146341 CCATGGATGTGTATCCTAACATTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 1565 1118 0.997196062990212 0.96455030808998 0.980873185540096 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.089350521801848 0.0276547425122007 0.977127272650668 0.922370553383071 NA 0.0585026321570243 NA FALSE NA 0 0.055 NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00001034359 intron_variant 0.011772 0.27293 0.02719 0.06567 0.622024480085002 0.0448725 0.738016171796638 FALSE 0.000364023 ENSE00001034359_019 ENSE00001034359 019 7 137293682 137293851 - 30 99 41 G T 137293837 2710 15 CCATGGATGTGTATACTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 137609090 137609091 137609091 upstr_intron -27 -0.634146341463415 CCATGGATGTGTATACTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG mutant NA NA NA NA NA 740 33 1 1 1 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA 0.0921544588116364 0.0631044344222208 0.977127272650668 0.922370553383071 NA 0.0776294466169286 NA FALSE NA 0.013 0.155 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 9/33 rs200941467 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GGA G,T 8.237e-06 7:137609091 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034359 intron_variant -0.083241 0.18627 0.04673 0.06567 0.717077071050288 0.0448725 0.738016171796638 FALSE 4.10482e-06 ENSE00001034359_BRK ENSE00001034359 BRK 7 137293682 137293851 - 30 99 41 A,G; T,T NA NA NA CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCTTCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGCCGAGTAATTTTTCATGATTTTCAACTTAG 137608935 137609105 NA NA NA NA NA NA CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCTTCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGCCGAGTAATTTTTCATGATTTTCAACTTAG CCATGGATGTGTATCCTAACAGTGCTGATTGCTTCTTTCAGCAGGAAAACAAAGGTCGTCCTTTTGTGATAAAACCCATCTCTTCTCCTCTCATGAAACCCTTGCTTGTATTTGTGAATCCCAAGAGTGGAGGCAACCAGGTGAGTAATTTTTCATGATTTTCAACTTAG control NA NA NA NA NA 427 992 0.235324910283646 0.095314470124054 0.16531969020385 0.975133269752868 0.979121275548468 0.907845541188364 0.936895565577779 NA NA -0.672520630904717 -0.841581095453725 0.977127272650668 0.922370553383071 NA -0.757050863179221 NA TRUE NA NA NA NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00001034359 NA NA NA NA NA NA NA 0.738016171796638 FALSE NA ENSE00001034376_000 ENSE00001034376 000 7 137294239 137294408 - 42 75 53 NA NA NA NA NA AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 NA NA NA NA NA NA AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT natural 205 101 0.9680281660813 0.988851345364946 0.978439755723123 6803 7602 0.99096215487959 0.995345395435003 0.993153775157297 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 0 0 0 0 0.978439755723123 0.993153775157297 0 0 0 FALSE FALSE NA NA NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00001034376 NA NA NA NA NA NA NA 0.738016171796638 FALSE NA ENSE00001034376_001 ENSE00001034376 001 7 137294239 137294408 - 42 75 53 T A 137294255 2711 154 AGAAAGTGGAAATTCCACAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609508 137609509 137609509 downstr_intron 26 1.63414634146341 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGTGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 170 224 1 1 1 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 0.00465460456499667 0.978439755723123 0.993153775157297 NA 0.00684622484270353 NA FALSE NA 0 -2.266 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 9/33 1 NA CTC T,A 8.237e-06 7:137609509 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 intron_variant 0.301283 0.22807 0.06403 0.06567 0.28675031727342 0.0448725 0.738016171796638 FALSE 4.09457e-06 ENSE00001034376_002 ENSE00001034376 002 7 137294239 137294408 - 42 75 53 C T 137294256 2712 153 AGAAAGTGGAAATTCCTTAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609509 137609510 137609510 downstr_intron 25 1.60975609756098 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTAAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 977 1299 0.998644237236773 0.968787658504511 0.983715947870642 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00768208235718337 -0.0265577369304922 0.978439755723123 0.993153775157297 NA -0.00943782728665443 NA FALSE NA 0 -1.527 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 9/33 1 NA TCA C,T 8.237e-06 7:137609510 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 intron_variant -0.025449 0.09175 0.00133 0.06567 0.31532321901908 0.0448725 0.738016171796638 FALSE 4.09571e-06 ENSE00001034376_003 ENSE00001034376 003 7 137294239 137294408 - 42 75 53 C T 137294268 2713 141 AGAAAGTGGAAATTCCTCAGAATAAAACTTTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609521 137609522 137609522 downstr_intron 13 1.31707317073171 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAAAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 651 992 1 0.99776141149673 0.998880705748365 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 0.00241601606172692 0.978439755723123 0.993153775157297 NA 0.00572693059106866 NA FALSE NA 0 0.514 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 9/33 1 NA TCT C,T 8.237e-06 7:137609522 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 intron_variant 0.071317 0.30046 0.13426 0.06567 0.502300297449196 0.0448725 0.738016171796638 FALSE 4.07534e-06 ENSE00001034376_004 ENSE00001034376 004 7 137294239 137294408 - 42 75 53 T G 137294269 2714 140 AGAAAGTGGAAATTCCTCAGAATAAAACTCGGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609522 137609523 137609523 downstr_intron 12 1.29268292682927 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCCGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 535 2190 0.979488396030178 0.929401120706819 0.954444758368499 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA -0.0114737588494112 -0.0659442747281843 0.978439755723123 0.993153775157297 NA -0.0387090167887977 NA FALSE NA 0 -0.072 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 9/33 1 NA CTG T,G 1.647e-05 7:137609523 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 intron_variant 0.105409 0.25149 0.08916 0.06567 0.543481916011813 0.0448725 0.738016171796638 FALSE 8.14916e-06 ENSE00001034376_005 ENSE00001034376 005 7 137294239 137294408 - 42 75 53 A T 137294275 2715 134 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACTCTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609528 137609529 137609529 downstr_intron 6 1.14634146341463 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGAGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 206 247 1 1 1 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 0.00465460456499667 0.978439755723123 0.993153775157297 NA 0.00684622484270353 NA FALSE NA 0.997 3.85 . splice_region_variant&intron_variant LOW DGKI HGNC 2855 ENST00000288490 9/33 1 NA CAC A,T 8.237e-06 7:137609529 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 splice_region_variant -0.651651 0.97063 0.89788 0.06567 0.503424430378938 0.713308 0.738016171796638 FALSE NA ENSE00001034376_006 ENSE00001034376 006 7 137294239 137294408 - 42 75 53 T C 137294277 2716 132 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACCTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609530 137609531 137609531 downstr_intron 4 1.09756097560976 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAGGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 138 278 1 1 1 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 0.00465460456499667 0.978439755723123 0.993153775157297 NA 0.00684622484270353 NA FALSE NA 1 1.101 . splice_region_variant&intron_variant LOW DGKI HGNC 2855 ENST00000288490 9/33 1 NA CTT T,C 8.237e-06 7:137609531 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 splice_region_variant -0.694705 0.97277 0.83324 0.06567 0.428226336117431 0.242435 0.738016171796638 FALSE 4.07242e-06 ENSE00001034376_008 ENSE00001034376 008 7 137294239 137294408 - 42 75 53 C G 137294287 2718 122 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATGCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609540 137609541 137609541 exon -7 0.92 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGCATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 473 3386 1 0.993683548036574 0.996841774018287 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 -0.00166184739842978 0.978439755723123 0.993153775157297 NA 0.0036879988609903 NA FALSE NA 0.263 -0.058 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 9/34 rs372781628 1 NA G:0.0002 G:0 TCC C,G 8.237e-06 7:137609541 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 synonymous_variant 0.003989 0.8965 0.09271 0.554377 0.482606569766321 0 0.738016171796638 FALSE 4.07143e-06 ENSE00001034376_009 ENSE00001034376 009 7 137294239 137294408 - 42 75 53 C G 137294291 2719 118 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTGTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609544 137609545 137609545 exon -11 0.866666666666667 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAACAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 123 978 0.999664938747622 0.997340541001273 0.998502739874447 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00870278386803203 0.0019951455662699 0.978439755723123 0.993153775157297 NA 0.00534896471715096 NA FALSE NA 1 2.45 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 9/34 rs200562739 1 deleterious(0.03) benign(0.159) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TCT C,G 8.237e-06 7:137609545 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 missense_variant 3.450705 0.98132 0.93989 0.554377 0.953481034816887 0 0.738016171796638 FALSE 4.07159e-06 ENSE00001034376_010 ENSE00001034376 010 7 137294239 137294408 - 42 75 53 T C 137294317 2720 92 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTCGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609570 137609571 137609571 exon -37 0.52 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACGAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 722 727 1 0.999947635271949 0.999973817635974 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 0.00460223983694552 0.978439755723123 0.993153775157297 NA 0.00682004247867796 NA FALSE NA 0.374 -0.558 rs146168542 synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 9/34 rs146168542 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 TTG T,C 8.237e-06 7:137609571 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 synonymous_variant -0.138966 0.96334 0.36529 0.516011 0.699512564684992 0 0.738016171796638 FALSE 2.44393e-05 ENSE00001034376_011 ENSE00001034376 011 7 137294239 137294408 - 42 75 53 T C 137294319 2721 90 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGCTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609572 137609573 137609573 exon 37 0.493333333333333 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAGCAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 831 3659 0.959048539757609 0.999989598487656 0.979519069122633 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA -0.031913615121981 0.00464420305265312 0.978439755723123 0.993153775157297 NA -0.0136347060346639 NA FALSE NA 1 5.991 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 9/34 rs370818107 1 tolerated(0.77) possibly_damaging(0.839) C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 GTT T,C 0.0002883 7:137609573 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 missense_variant 2.815915 0.99291 0.98205 0.516011 0.923551263679218 0 0.738016171796638 FALSE 0.000252581 ENSE00001034376_012 ENSE00001034376 012 7 137294239 137294408 - 42 75 53 C T 137294323 2722 86 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTTTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609576 137609577 137609577 exon 33 0.44 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAAAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 697 314 1 0.965136138732008 0.982568069366004 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 -0.0302092567029951 0.978439755723123 0.993153775157297 NA -0.0105857057912924 NA FALSE NA 1 1.381 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 9/34 1 NA TCT C,T 8.237e-06 7:137609577 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 synonymous_variant 1.512348 0.97889 0.89491 0.516011 0.692233435865169 0 0.738016171796638 FALSE 4.07475e-06 ENSE00001034376_014 ENSE00001034376 014 7 137294239 137294408 - 42 75 53 G C 137294334 2724 75 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCCATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609587 137609588 137609588 exon 22 0.293333333333333 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATGGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 1220 389 0.995425382148509 0.802003238938943 0.898714310543726 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00446322726891957 -0.19334215649606 0.978439755723123 0.993153775157297 NA -0.0944394646135703 NA FALSE NA 1 1.528 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 9/34 1 deleterious(0.01) probably_damaging(0.963) NA CGA G,C 8.237e-06 7:137609588 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 missense_variant 6.19912 0.98563 0.93523 0.516011 0.998284332169097 0 0.738016171796638 FALSE 4.07757e-06 ENSE00001034376_015 ENSE00001034376 015 7 137294239 137294408 - 42 75 53 C T 137294343 2725 66 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGTCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609596 137609597 137609597 exon 13 0.173333333333333 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGACTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 2604 748 0.996689037266486 0.999102100327575 0.997895568797031 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00572688238689645 0.00375670489257185 0.978439755723123 0.993153775157297 NA 0.00474179363973415 NA FALSE NA 1 3.873 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 9/34 1 tolerated(0.08) benign(0.007) NA GCC C,T 8.237e-06 7:137609597 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 missense_variant 3.217407 0.98316 0.76795 0.516011 0.994165235034037 0 0.738016171796638 FALSE 4.07877e-06 ENSE00001034376_016 ENSE00001034376 016 7 137294239 137294408 - 42 75 53 G A 137294349 2726 60 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAAGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609602 137609603 137609603 exon 7 0.0933333333333333 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCTTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 1742 855 1 0.999955476860589 0.999977738430295 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 0.00461008142558583 0.978439755723123 0.993153775157297 NA 0.00682396327299811 NA FALSE NA 0.899 1.388 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 9/34 COSM3950000&COSM3950001&COSM3950002 1 NA AGG G,A 4.942e-05 7:137609603 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 synonymous_variant 0.464511 0.77788 0.522 0.516011 0.692737760686423 0 0.738016171796638 FALSE 2.85691e-05 ENSE00001034376_017 ENSE00001034376 017 7 137294239 137294408 - 42 75 53 T C 137294359 2727 50 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGCAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609612 137609613 137609613 upstr_intron -4 -0.0566037735849057 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTGCAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 430 3663 1 0.999206467091889 0.999603233545945 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 0.00386107165688587 0.978439755723123 0.993153775157297 NA 0.00644945838864813 NA FALSE NA 0 -1.588 . splice_region_variant&intron_variant LOW DGKI HGNC 2855 ENST00000288490 8/33 1 NA GTA T,C 1.647e-05 7:137609613 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 splice_region_variant -0.152907 0.59787 0.01885 0.06567 0.62317279532035 0.196427 0.738016171796638 FALSE 1.22587e-05 ENSE00001034376_018 ENSE00001034376 018 7 137294239 137294408 - 42 75 53 A G 137294370 2728 39 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGGGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609623 137609624 137609624 upstr_intron -15 -0.264150943396226 AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCCCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 387 20 0.999603798097001 1 0.999801899048501 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00864164321741179 0.00465460456499667 0.978439755723123 0.993153775157297 NA 0.00664812389120423 NA FALSE NA 0.961 0.942 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 8/33 1 NA GAG A,G 8.237e-06 7:137609624 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 intron_variant -0.928375 0.2363 0.25027 0.06567 0.450356351913892 0.117164 0.738016171796638 FALSE 1.22926e-05 ENSE00001034376_021 ENSE00001034376 021 7 137294239 137294408 - 42 75 53 G A 137294389 2731 20 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAAGCAGCCAGCCCAGGAGCTT 137609492 137609662 137609642 137609643 137609643 upstr_intron -34 -0.622641509433962 AAGCTCCTGGGCTGGCTGCTTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 1049 343 0.993657791566761 0.995412230184847 0.994535010875804 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00269563668717165 6.68347498438138e-05 0.978439755723123 0.993153775157297 NA 0.00138123571850773 NA FALSE NA 0.986 2.989 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 8/33 1 NA AGG G,A 8.238e-06 7:137609643 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 intron_variant -0.126352 0.34763 0.58882 0.080785 0.563389630388379 0.156082 0.738016171796638 FALSE 4.12752e-06 ENSE00001034376_022 ENSE00001034376 022 7 137294239 137294408 - 42 75 53 G A 137294393 2732 16 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAACCAGCCCAGGAGCTT 137609492 137609662 137609646 137609647 137609647 upstr_intron -38 -0.69811320754717 AAGCTCCTGGGCTGGTTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 236 194 0.994103621531497 0.999803589871193 0.996953605701345 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00314146665190751 0.00445819443618933 0.978439755723123 0.993153775157297 NA 0.00379983054404842 NA FALSE NA 0.048 0.763 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 8/33 1 NA AGC G,A 8.238e-06 7:137609647 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 intron_variant -0.635417 0.2637 0.09562 0.080785 0.629719579113145 0.161747 0.738016171796638 FALSE 1.24486e-05 ENSE00001034376_023 ENSE00001034376 023 7 137294239 137294408 - 42 75 53 C T 137294394 2733 15 AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTACTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTCTGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGTCAGCCCAGGAGCTT 137609492 137609662 137609647 137609648 137609648 upstr_intron -39 -0.716981132075472 AAGCTCCTGGGCTGACTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT mutant NA NA NA NA NA 375 1855 1 0.98761834958405 0.993809174792025 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 NA NA 0.00903784512041039 -0.00772704585095363 0.978439755723123 0.993153775157297 NA 0.000655399634728382 NA FALSE NA 0 -1.358 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 8/33 1 NA GCC C,T 8.238e-06 7:137609648 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00001034376 intron_variant -0.427607 0.22067 0.02883 0.080785 0.611750629954908 0.158934 0.738016171796638 FALSE NA ENSE00001034376_BRK ENSE00001034376 BRK 7 137294239 137294408 - 42 75 53 A,G; T,T NA NA NA AGAAAGTGGAAATTCCTCAGAATAAAACTCTGAAACACTTGGTTCCATCCCTCTTTTACTGGCTTTTCTTTTAAAGCTTGTTCTCTTCTTCTTCCGATTTGAAGCCTTCAGGGAGTTAAGTAGGGAGAGAGAGAAATGCCTGAGCTCAGAGGCAGCCAGCCCAGGAGCTT 137609492 137609662 NA NA NA NA NA NA AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACTTAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAACCAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT AAGCTCCTGGGCTGGCTGCCTCTGAGCTCAGGCATTTCTCTCTCTCCCTACAGAACTCCCTGAAGGCTTCAAATCGGAAGAAGAAGAGAACAAGCTTTAAAAGAAAAGCCAGTAAAAGAGGGATGGAAGTAAGTGTTTCAGAGTTTTATTCTGAGGAATTTCCACTTTCT control 71 12 0 0 0 NA NA NA NA NA 0.9680281660813 0.988851345364946 0.99096215487959 0.995345395435003 -0.9680281660813 -0.988851345364946 NA NA 0.978439755723123 0.993153775157297 -0.978439755723123 NA NA NA TRUE NA NA NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00001034376 NA NA NA NA NA NA NA 0.738016171796638 FALSE NA ENSE00001034610_000 ENSE00001034610 000 15 64429006 64429175 + 54 72 44 NA NA NA NA NA TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 NA NA NA NA NA NA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA natural NA NA NA NA NA 1077 910 0.998770785782797 0.998083430042982 0.99842710791289 NA NA 0.998770785782797 0.998083430042982 NA NA 0 0 NA 0.99842710791289 NA 0 NA FALSE NA NA NA NA NA NA SNX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX1 NA NA NA ENSG00000028528 ENSE00003677097 NA NA NA NA NA NA NA 0.939839944686599 TRUE NA ENSE00001034610_001 ENSE00001034610 001 15 64429006 64429175 + 54 72 44 G A 64429017 1318 12 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTTCCTTTCGATGG 64136806 64136976 64136817 64136818 64136818 upstr_intron -43 -0.777777777777778 CCATCGAAAGGAAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 30 406 1 1 1 NA NA 0.998770785782797 0.998083430042982 NA NA 0.00122921421720279 0.00191656995701761 NA 0.99842710791289 NA 0.0015728920871102 NA FALSE NA 0.762 1.012 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 1 NA GGA G,A 8.236e-06 15:64136818 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 intron_variant 0.74214 0.32622 0.45844 0.256867 0.798724250271442 0.160422 0.939839944686599 TRUE NA ENSE00001034610_002 ENSE00001034610 002 15 64429006 64429175 + 54 72 44 C G 64429022 1319 17 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTCCTTTCCCTTTCGATGG 64136806 64136976 64136822 64136823 64136823 upstr_intron -38 -0.685185185185185 CCATCGAAAGGGAAAGGAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 529 125 0.988714236621324 0.992006808204523 0.990360522412923 NA NA 0.998770785782797 0.998083430042982 NA NA -0.0100565491614732 -0.00607662183845981 NA 0.99842710791289 NA -0.00806658549996653 NA FALSE NA 0.978 1.531 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 1 NA GCA C,G 8.236e-06 15:64136823 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 intron_variant 0.370875 0.23096 0.08223 0.256867 0.623832815002292 0.160422 0.939839944686599 TRUE 8.30082e-06 ENSE00001034610_003 ENSE00001034610 003 15 64429006 64429175 + 54 72 44 G A 64429031 1320 26 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATTCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136831 64136832 64136832 upstr_intron -29 -0.518518518518518 CCATCGAAAGGGAAAGCAAAAACTGAATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 926 1602 1 0.994230455063526 0.997115227531763 NA NA 0.998770785782797 0.998083430042982 NA NA 0.00122921421720279 -0.00385297497945669 NA 0.99842710791289 NA -0.00131188038112695 NA FALSE NA 0.01 0.958 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 rs368873059 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 15:64136832 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 intron_variant 0.40584 0.33737 0.10677 0.256867 0.623871384210996 0.160422 0.939839944686599 TRUE 4.11862e-06 ENSE00001034610_004 ENSE00001034610 004 15 64429006 64429175 + 54 72 44 G A 64429034 1321 29 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACTATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136834 64136835 64136835 upstr_intron -26 -0.462962962962963 CCATCGAAAGGGAAAGCAAAAACTGGATAGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 475 441 0.987318173309887 0.982150632629936 0.984734402969912 NA NA 0.998770785782797 0.998083430042982 NA NA -0.0114526124729101 -0.0159327974130463 NA 0.99842710791289 NA -0.0136927049429782 NA FALSE NA 0.026 0.461 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 1 NA TGG G,A 8.237e-06 15:64136835 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 intron_variant 0.20834 0.26396 0.22532 0.256867 0.673929288345961 0.160422 0.939839944686599 TRUE NA ENSE00001034610_006 ENSE00001034610 006 15 64429006 64429175 + 54 72 44 A T 64429045 1323 40 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATACTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136845 64136846 64136846 upstr_intron -15 -0.259259259259259 CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGTATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 380 294 1 1 1 NA NA 0.998770785782797 0.998083430042982 NA NA 0.00122921421720279 0.00191656995701761 NA 0.99842710791289 NA 0.0015728920871102 NA FALSE NA 0.268 -0.084 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 rs372302583 1 NA T:0 T:0.0002 GAA A,T 1.647e-05 15:64136846 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 intron_variant 0.423202 0.26648 0.06426 0.256867 0.723288725914653 0.173115 0.939839944686599 TRUE 2.03702e-05 ENSE00001034610_007 ENSE00001034610 007 15 64429006 64429175 + 54 72 44 C G 64429048 1324 43 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAACATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136848 64136849 64136849 upstr_intron -12 -0.203703703703704 CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATGTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 38 228 0.8 0.8 0.8 NA NA 0.998770785782797 0.998083430042982 NA NA -0.198770785782797 -0.198083430042982 NA 0.99842710791289 NA -0.19842710791289 NA FALSE NA 0.983 0.978 rs115588711 downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 rs115588711 1 G:0.0120 G:0.0439 G:0.0029 NA G:0 G:0 G:0 G:0.0306 G:0 TCT C,G 0.003113 15:64136849 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 intron_variant 1.719663 0.95016 0.36944 0.256867 0.768944828217029 0.759028 0.939839944686599 TRUE 0.00251731 ENSE00001034610_009 ENSE00001034610 009 15 64429006 64429175 + 54 72 44 A G 64429062 1326 57 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCCTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136862 64136863 64136863 exon 3 0.0416666666666667 CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAGGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant 35 63 0.85 0.85 0.85 778 56 0.797261900548261 0.804495222067428 0.800878561307844 NA NA 0.998770785782797 0.998083430042982 NA NA -0.201508885234537 -0.193588207975555 NA 0.99842710791289 NA -0.197548546605046 NA FALSE NA 1 4.237 rs138035698 downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 rs138035698 1 NA G:0 G:0.0001 AAG A,G 8.236e-06 15:64136863 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 splice_region_variant 1.793344 0.96632 0.92408 0.736574 0.939215377836586 0 0.939839944686599 TRUE 8.13002e-06 ENSE00001034610_010 ENSE00001034610 010 15 64429006 64429175 + 54 72 44 G A 64429075 1327 70 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTTCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136875 64136876 64136876 exon 16 0.222222222222222 CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGAACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant 22 13 0.85 0.956803935014556 0.903401967507278 240 1111 0.825360820472656 0.943687032258529 0.884523926365592 NA NA 0.998770785782797 0.998083430042982 NA NA -0.173409965310142 -0.0543963977844533 NA 0.99842710791289 NA -0.113903181547297 NA FALSE NA 1 5.323 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 1 NA GGA G,A 1.647e-05 15:64136876 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 missense_variant 4.440776 0.96851 0.93251 0.736574 0.998896656313281 0 0.939839944686599 TRUE 2.03239e-05 ENSE00001034610_017 ENSE00001034610 017 15 64429006 64429175 + 54 72 44 C T 64429101 1334 96 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGATACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136901 64136902 64136902 exon -31 0.583333333333333 CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTATCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 235 144 0.995043252392811 0.988373713883457 0.991708483138134 NA NA 0.998770785782797 0.998083430042982 NA NA -0.00372753338998588 -0.00970971615952576 NA 0.99842710791289 NA -0.00671862477475582 NA FALSE NA 1 1.589 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 rs373098631 1 T:0.0052 T:0 T:0 NA T:0 T:0 T:0.0266 ACC C,T 0.002767 15:64136902 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 synonymous_variant 0.825302 0.94928 0.81254 0.736574 0.377827780453465 0 0.939839944686599 TRUE 0.00260398 ENSE00001034610_018 ENSE00001034610 018 15 64429006 64429175 + 54 72 44 C T 64429109 1335 104 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTATCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136909 64136910 64136910 exon -23 0.694444444444444 CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGATACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 140 96 0.991782908508689 1 0.995891454254344 NA NA 0.998770785782797 0.998083430042982 NA NA -0.00698787727410854 0.00191656995701761 NA 0.99842710791289 NA -0.00253565365854547 NA FALSE NA 0.979 2.511 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 1 NA ACA C,T 2.471e-05 15:64136910 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 missense_variant 2.156151 0.95522 0.88138 0.736574 0.968682883344424 0 0.939839944686599 TRUE 2.0311e-05 ENSE00001034610_020 ENSE00001034610 020 15 64429006 64429175 + 54 72 44 G C 64429128 1337 123 TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATACCTGGTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136928 64136929 64136929 exon -4 0.958333333333333 CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCACCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 801 1416 0.998760372028303 0.994260609086739 0.996510490557521 NA NA 0.998770785782797 0.998083430042982 NA NA -1.04137544940652e-05 -0.00382282095624364 NA 0.99842710791289 NA -0.00191661735536885 NA FALSE NA 1 1.067 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 1 NA AGC G,C 1.647e-05 15:64136929 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 missense_variant 1.119733 0.93846 0.86881 0.736574 0.93818950939879 0 0.939839944686599 TRUE 8.12922e-06 ENSE00001034610_022 ENSE00001034610 022 15 64429006 64429175 + 54 72 44 G C 64429149 1339 144 TGGAGCAGGCAGTAGAGGATGAAGGTGACACACAACTTACATACCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTCTAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 64136949 64136950 64136950 downstr_intron 18 1.41860465116279 CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTCACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA mutant NA NA NA NA NA 159 194 1 1 1 NA NA 0.998770785782797 0.998083430042982 NA NA 0.00122921421720279 0.00191656995701761 NA 0.99842710791289 NA 0.0015728920871102 NA FALSE NA 0 1.121 . downstream_gene_variant MODIFIER SNX1 HGNC 11172 ENST00000559339 1 NA TGA G,C 1.647e-05 15:64136950 SNX1 HGNC Symbol protein_coding 51967 ENSG00000028528 ENSE00003677097 intron_variant -0.152271 0.297 0.22321 0.115753 0.561223075542455 0.0541779 0.939839944686599 TRUE 8.15275e-06 ENSE00001034610_BRK ENSE00001034610 BRK 15 64429006 64429175 + 54 72 44 A,G; T,T NA NA NA TGGAGCAGGCAGTAGAGGATGAAGGTCACACACAACTTACATGGCTGCTGCTGTGAGTAAAGGAGTGTCTCAAGGTACTTGATCACGTGGTTCTTGAAGTCCTTGGATTTCTCTTTAAAGGAGACAAGATTCTACACTGACCATCCAGTTTTTGCTTTCCCTTTCGATGG 64136806 64136976 NA NA NA NA NA NA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTTTAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGCCATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA CCATCGAAAGGGAAAGCAAAAACTGGATGGTCAGTGTAGAATCTTGTCTCCTAGAAAGAGAAATCCAAGGACTTCAAGAACCACGTGATCAAGTACCTTGAGACACTCCTTTACTCACAGCAGCAGGTATGTAAGTTGTGTGTGACCTTCATCCTCTACTGCCTGCTCCA control 43 83 0 0 0 NA NA NA NA NA NA NA 0.998770785782797 0.998083430042982 NA NA NA NA NA 0.99842710791289 NA NA NA NA NA NA NA NA NA NA SNX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX1 NA NA NA ENSG00000028528 ENSE00003677097 NA NA NA NA NA NA NA 0.939839944686599 TRUE NA ENSE00001034702_000 ENSE00001034702 000 6 41545682 41545851 + 42 96 32 NA NA NA NA NA CCAGCCTCCCAGGCCATTGCTGACTCAGCCCCTGTCTTGCAGGCTCTCCAAGTGGCCCGGCAGTTCCTGCTGCAGCAGGCCTCAGGCCTGAGCTCCCCAGGGAACAATGACAGCAAACAGTCTGCCTCTGCTGTGCAGGTGAGGAAGAGAGCACCCCGCTGGCTCTGGGT 41577943 41578113 NA NA NA NA NA NA CCAGCCTCCCAGGCCATTGCTGACTCAGCCCCTGTCTTGCAGGCTCTCCAAGTGGCCCGGCAGTTCCTGCTGCAGCAGGCCTCAGGCCTGAGCTCCCCAGGGAACAATGACAGCAAACAGTCTGCCTCTGCTGTGCAGGTGAGGAAGAGAGCACCCCGCTGGCTCTGGGT CCAGCCTCCCAGGCCATTGCTGACTCAGCCCCTGTCTTGCAGGCTCTCCAAGTGGCCCGGCAGTTCCTGCTGCAGCAGGCCTCAGGCCTGAGCTCCCCAGGGAACAATGACAGCAAACAGTCTGCCTCTGCTGTGCAGGTGAGGAAGAGAGCACCCCGCTGGCTCTGGGT natural 16 23 0.997346000368666 0.991377465778609 0.994361733073637 295 263 0.979352124890457 0.979909919911212 0.979631022400834 0.997346000368666 0.991377465778609 0.979352124890457 0.979909919911212 0 0 0 0 0.994361733073637 0.979631022400834 0 0 0 FALSE FALSE NA NA NA NA NA FOXP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOXP4 NA NA NA ENSG00000137166 ENSE00001034702 NA NA NA NA NA NA NA 0.671770825297787 FALSE NA ENSE00001034702_016 ENSE00001034702 016 6 41545682 41545851 + 42 96 32 A G 41545784 1264 103 CCAGCCTCCCAGGCCATTGCTGACTCAGCCCCTGTCTTGCAGGCTCTCCAAGTGGCCCGGCAGTTCCTGCTGCAGCAGGCCTCAGGCCTGAGCTCCCCAGGGGACAATGACAGCAAACAGTCTGCCTCTGCTGTGCAGGTGAGGAAGAGAGCACCCCGCTGGCTCTGGGT 41577943 41578113 41578045 41578046 41578046 exon -36 0.635416666666667 CCAGCCTCCCAGGCCATTGCTGACTCAGCCCCTGTCTTGCAGGCTCTCCAAGTGGCCCGGCAGTTCCTGCTGCAGCAGGCCTCAGGCCTGAGCTCCCCAGGGGACAATGACAGCAAACAGTCTGCCTCTGCTGTGCAGGTGAGGAAGAGAGCACCCCGCTGGCTCTGGGT CCAGCCTCCCAGGCCATTGCTGACTCAGCCCCTGTCTTGCAGGCTCTCCAAGTGGCCCGGCAGTTCCTGCTGCAGCAGGCCTCAGGCCTGAGCTCCCCAGGGAACAATGACAGCAAACAGTCTGCCTCTGCTGTGCAGGTGAGGAAGAGAGCACCCCGCTGGCTCTGGGT mutant NA NA NA NA NA 275 437 0.965358875293672 0.983360627900516 0.974359751597094 0.997346000368666 0.991377465778609 0.979352124890457 0.979909919911212 NA NA -0.0139932495967847 0.00345070798930436 0.994361733073637 0.979631022400834 NA -0.00527127080374018 NA FALSE NA 1 5.946 . missense_variant MODERATE FOXP4 HGNC 20842 ENST00000373063 3/17 1 tolerated(0.12) benign(0.05) NA GAA A,G 8.236e-06 6:41578046 FOXP4 HGNC Symbol protein_coding 55958 ENSG00000137166 ENSE00001034702 missense_variant 2.973617 0.93875 0.81145 0.741868 0.994138998804493 0 0.671770825297787 FALSE 4.07428e-06 ENSE00001035528_000 ENSE00001035528 000 2 26672819 26672988 + 45 90 35 NA NA NA NA NA CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG 26449950 26450120 NA NA NA NA NA NA CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG natural 83 147 0.976409739024568 0.936195757980088 0.956302748502328 1229 1331 0.913378711659464 0.85549570335456 0.884437207507012 0.976409739024568 0.936195757980088 0.913378711659464 0.85549570335456 0 0 0 0 0.956302748502328 0.884437207507012 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DRC1 NA NA NA ENSG00000157856 ENSE00003739484 NA NA NA NA NA NA NA 1.30453003302834e-10 FALSE NA ENSE00001035528_001 ENSE00001035528 001 2 26672819 26672988 + 45 90 35 C A 26672833 360 15 CTGAAACCTGTCCCAGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG 26449950 26450120 26449964 26449965 26449965 upstr_intron -31 -0.666666666666667 CTGAAACCTGTCCCAGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG mutant NA NA NA NA NA 147 12 0.972445456026244 0.95 0.961222728013122 0.976409739024568 0.936195757980088 0.913378711659464 0.85549570335456 NA NA 0.0590667443667802 0.0945042966454398 0.956302748502328 0.884437207507012 NA 0.07678552050611 NA FALSE NA 0 -0.012 NA NA NA DRC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:26449965 DRC1 HGNC Symbol protein_coding 54795 ENSG00000157856 ENSE00003739484 intron_variant 0.065328 0.13189 0.01402 0.053691 0.633629610477743 0.149847 1.30453003302834e-10 FALSE 4.13213e-06 ENSE00001035528_007 ENSE00001035528 007 2 26672819 26672988 + 45 90 35 C T 26672846 366 28 CTGAAACCTGTCCCCGACAGGAGATGCTTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG 26449950 26450120 26449977 26449978 26449978 upstr_intron -18 -0.377777777777778 CTGAAACCTGTCCCCGACAGGAGATGCTTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG mutant NA NA NA NA NA 69 91 1 1 1 0.976409739024568 0.936195757980088 0.913378711659464 0.85549570335456 NA NA 0.0866212883405361 0.14450429664544 0.956302748502328 0.884437207507012 NA 0.115562792492988 NA FALSE NA 0 -0.241 . intron_variant MODIFIER DRC1 HGNC 24245 ENST00000288710 11/16 rs376804115 1 NA T:0 T:0.0001 CCT G,T 2.471e-05 2:26449978 DRC1 HGNC Symbol protein_coding 54795 ENSG00000157856 ENSE00003739484 intron_variant -0.087184 0.15026 0.00698 0.053691 0.738842465153816 0.149847 1.30453003302834e-10 FALSE 2.86313e-05 ENSE00001035528_008 ENSE00001035528 008 2 26672819 26672988 + 45 90 35 C A 26672858 367 40 CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTACCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG 26449950 26450120 26449989 26449990 26449990 upstr_intron -6 -0.111111111111111 CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTACCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG mutant NA NA NA NA NA 406 299 1 0.8 0.9 0.976409739024568 0.936195757980088 0.913378711659464 0.85549570335456 NA NA 0.0866212883405361 -0.0554957033545601 0.956302748502328 0.884437207507012 NA 0.015562792492988 NA FALSE NA 0 0.449 . splice_region_variant&intron_variant LOW DRC1 HGNC 24245 ENST00000288710 11/16 rs201815519 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 TCC C,A 8.236e-05 2:26449990 DRC1 HGNC Symbol protein_coding 54795 ENSG00000157856 ENSE00003739484 splice_region_variant 1.56526 0.23437 0.08027 0.053691 0.625031624355045 0.386628 1.30453003302834e-10 FALSE 8.97161e-05 ENSE00001035528_015 ENSE00001035528 015 2 26672819 26672988 + 45 90 35 T C 26672926 374 108 CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTACCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG 26449950 26450120 26450057 26450058 26450058 exon -28 0.7 CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTACCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG mutant NA NA NA NA NA 10 456 1 1 1 0.976409739024568 0.936195757980088 0.913378711659464 0.85549570335456 NA NA 0.0866212883405361 0.14450429664544 0.956302748502328 0.884437207507012 NA 0.115562792492988 NA FALSE NA 0.967 0.004 . synonymous_variant LOW DRC1 HGNC 24245 ENST00000288710 12/17 rs374433254 1 NA C:0 C:0.0001 ATC T,C 8.236e-06 2:26450058 DRC1 HGNC Symbol protein_coding 54795 ENSG00000157856 ENSE00003739484 synonymous_variant -0.154262 0.9361 0.2319 0.554377 0.445195165060498 0 1.30453003302834e-10 FALSE 4.07299e-06 ENSE00001035528_BRK ENSE00001035528 BRK 2 26672819 26672988 + 45 90 35 A,G; T,T NA NA NA CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCTTGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCCCGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG 26449950 26450120 NA NA NA NA NA NA CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCTTGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCCCGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG CTGAAACCTGTCCCCGACAGGAGATGCCTTCTTCCTTCTCCCCAGGGGTTCCTCATAGAGAGCAAGCTGCTGAGCCTTCTCCTGCCCCTGGAGCAGAATGAATGCTATCTGCTGAGGCTGGATGCCATCTTCTCCGTGAGTCCAACGGGGCTGGGAGGACACGGGTGGGG control 91 63 0 0 0 NA NA NA NA NA 0.976409739024568 0.936195757980088 0.913378711659464 0.85549570335456 -0.976409739024568 -0.936195757980088 NA NA 0.956302748502328 0.884437207507012 -0.956302748502328 NA NA NA TRUE NA NA NA NA NA DRC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DRC1 NA NA NA ENSG00000157856 ENSE00003739484 NA NA NA NA NA NA NA 1.30453003302834e-10 FALSE NA ENSE00001036040_000 ENSE00001036040 000 2 54873020 54873189 + 45 90 35 NA NA NA NA NA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 NA NA NA NA NA NA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA natural NA NA NA NA NA 3215 2449 0.879493802544356 0.989380478211184 0.93443714037777 NA NA 0.879493802544356 0.989380478211184 NA NA 0 0 NA 0.93443714037777 NA 0 NA FALSE NA NA NA NA NA NA SPTBN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTBN1 NA NA NA ENSG00000115306 ENSE00001036040 NA NA NA NA NA NA NA 0.999999999947367 TRUE NA ENSE00001036040_001 ENSE00001036040 001 2 54873020 54873189 + 45 90 35 T A 54873038 1259 19 TGTTCCTCTGAGTGGATCAGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645900 54645901 54645901 upstr_intron -27 -0.577777777777778 TGTTCCTCTGAGTGGATCAGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 494 1194 0.00099110153750951 0.106175506673149 0.0535833041053294 NA NA 0.879493802544356 0.989380478211184 NA NA -0.878502701006846 -0.883204971538035 NA 0.93443714037777 NA -0.88085383627244 NA TRUE NA 0.044 0.63 . intron_variant MODIFIER SPTBN1 HGNC 11275 ENST00000333896 20/30 1 NA CTG T,A 8.236e-06 2:54645901 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 intron_variant 0.741877 0.39859 0.19343 0.256867 0.833776897804861 0.0476178 0.999999999947367 TRUE 4.06352e-06 ENSE00001036040_002 ENSE00001036040 002 2 54873020 54873189 + 45 90 35 T C 54873048 1260 29 TGTTCCTCTGAGTGGATCTGACCACTTACTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645910 54645911 54645911 upstr_intron -17 -0.355555555555556 TGTTCCTCTGAGTGGATCTGACCACTTACTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 59 608 0.817338417514493 0.810347187643984 0.813842802579238 NA NA 0.879493802544356 0.989380478211184 NA NA -0.0621553850298624 -0.1790332905672 NA 0.93443714037777 NA -0.120594337798531 NA FALSE NA 0 0.027 . intron_variant MODIFIER SPTBN1 HGNC 11275 ENST00000333896 20/30 1 NA ATT T,C 8.236e-06 2:54645911 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 intron_variant -0.101684 0.41667 0.2227 0.256867 0.622128017032581 0.088125 0.999999999947367 TRUE 1.62479e-05 ENSE00001036040_004 ENSE00001036040 004 2 54873020 54873189 + 45 90 35 C T 54873060 1262 41 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTTCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645922 54645923 54645923 upstr_intron -5 -0.0888888888888889 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTTCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 1086 903 0.998119138000451 0.997459979572924 0.997789558786688 NA NA 0.879493802544356 0.989380478211184 NA NA 0.118625335456095 0.00807950136174029 NA 0.93443714037777 NA 0.0633524184089178 NA FALSE NA 0.984 2.865 . splice_region_variant&intron_variant LOW SPTBN1 HGNC 11275 ENST00000333896 20/30 1 NA TCC C,T 4.118e-05 2:54645923 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 splice_region_variant 1.496819 0.83625 0.17837 0.256867 0.79460221930712 0.24648 0.999999999947367 TRUE 2.84306e-05 ENSE00001036040_005 ENSE00001036040 005 2 54873020 54873189 + 45 90 35 G A 54873067 1263 48 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTATGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645929 54645930 54645930 exon 3 0.0333333333333333 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTATGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 1447 74 0.998407638422106 1 0.999203819211053 NA NA 0.879493802544356 0.989380478211184 NA NA 0.118913835877751 0.0106195217888161 NA 0.93443714037777 NA 0.0647666788332834 NA FALSE NA 1 0.728 . splice_region_variant&synonymous_variant LOW SPTBN1 HGNC 11275 ENST00000333896 21/31 1 NA TGT G,A 8.236e-06 2:54645930 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 splice_region_variant 1.560001 0.93485 0.90018 0.706548 0.760226846053027 0 0.999999999947367 TRUE 8.12341e-06 ENSE00001036040_006 ENSE00001036040 006 2 54873020 54873189 + 45 90 35 A G 54873076 1264 57 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGGGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645938 54645939 54645939 exon 12 0.133333333333333 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGGGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 25 488 0 0.0145097184027075 0.00725485920135375 NA NA 0.879493802544356 0.989380478211184 NA NA -0.879493802544356 -0.974870759808476 NA 0.93443714037777 NA -0.927182281176416 NA TRUE NA 0.944 0.638 . synonymous_variant LOW SPTBN1 HGNC 11275 ENST00000333896 21/31 1 NA GAG A,G 8.236e-06 2:54645939 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 synonymous_variant 1.381611 0.92573 0.76674 0.706548 0.783004197418929 0 0.999999999947367 TRUE 4.06131e-06 ENSE00001036040_009 ENSE00001036040 009 2 54873020 54873189 + 45 90 35 C G 54873086 1267 67 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGGCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645948 54645949 54645949 exon 22 0.244444444444444 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGGCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 19 133 1 0.998809016674747 0.999404508337373 NA NA 0.879493802544356 0.989380478211184 NA NA 0.120506197455644 0.00942853846356262 NA 0.93443714037777 NA 0.0649673679596035 NA FALSE NA 1 4.836 . missense_variant MODERATE SPTBN1 HGNC 11275 ENST00000333896 21/31 1 tolerated(0.09) benign(0.019) NA GCC C,G 1.647e-05 2:54645949 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 missense_variant 2.92375 0.96206 0.95441 0.706548 0.985976244155997 0 0.999999999947367 TRUE 8.12282e-06 ENSE00001036040_011 ENSE00001036040 011 2 54873020 54873189 + 45 90 35 A G 54873101 1269 82 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCGCGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645963 54645964 54645964 exon 37 0.411111111111111 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCGCGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 611 1540 0.995425318655515 0.999255170827069 0.997340244741292 NA NA 0.879493802544356 0.989380478211184 NA NA 0.11593151611116 0.00987469261588547 NA 0.93443714037777 NA 0.0629031043635226 NA FALSE NA 1 6.063 . missense_variant MODERATE SPTBN1 HGNC 11275 ENST00000333896 21/31 1 tolerated(0.24) benign(0.013) NA CAC A,G 8.236e-06 2:54645964 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 missense_variant 2.304316 0.96444 0.9553 0.706548 0.990261182857046 0 0.999999999947367 TRUE 8.12308e-06 ENSE00001036040_013 ENSE00001036040 013 2 54873020 54873189 + 45 90 35 G A 54873103 1271 84 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACAGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645965 54645966 54645966 exon 39 0.433333333333333 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACAGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 1226 59 0.8 0.808497404071372 0.804248702035686 NA NA 0.879493802544356 0.989380478211184 NA NA -0.0794938025443556 -0.180883074139811 NA 0.93443714037777 NA -0.130188438342083 NA FALSE NA 0 -2.649 . synonymous_variant LOW SPTBN1 HGNC 11275 ENST00000333896 21/31 1 NA CGG G,A 0.0003295 2:54645966 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 synonymous_variant 2.059133 0.18004 0.09127 0.706548 0.530118817538313 0 0.999999999947367 TRUE 0.000199024 ENSE00001036040_014 ENSE00001036040 014 2 54873020 54873189 + 45 90 35 C T 54873107 1272 88 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATTATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645969 54645970 54645970 exon 43 0.477777777777778 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATTATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 47 905 0.952561611562264 0.977823227160225 0.965192419361244 NA NA 0.879493802544356 0.989380478211184 NA NA 0.0730678090179079 -0.0115572510509591 NA 0.93443714037777 NA 0.0307552789834744 NA FALSE NA 1 7.702 . missense_variant MODERATE SPTBN1 HGNC 11275 ENST00000333896 21/31 1 tolerated(0.46) benign(0.122) NA TCA C,T 8.236e-06 2:54645970 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 missense_variant 2.92791 0.98028 0.975 0.706548 0.963373194935848 0 0.999999999947367 TRUE 4.06164e-06 ENSE00001036040_017 ENSE00001036040 017 2 54873020 54873189 + 45 90 35 G A 54873133 1275 114 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAACTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54645995 54645996 54645996 exon -22 0.766666666666667 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAACTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 141 458 0.812053319380415 0.96903651799831 0.890544918689362 NA NA 0.879493802544356 0.989380478211184 NA NA -0.0674404831639411 -0.0203439602128743 NA 0.93443714037777 NA -0.0438922216884077 NA FALSE NA 1 4.851 rs150847308 synonymous_variant LOW SPTBN1 HGNC 11275 ENST00000333896 21/31 rs150847308 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGC G,A 8.236e-06 2:54645996 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 synonymous_variant 1.281368 0.97125 0.95056 0.706548 0.810017213957956 0 0.999999999947367 TRUE 4.06279e-06 ENSE00001036040_019 ENSE00001036040 019 2 54873020 54873189 + 45 90 35 A G 54873146 1277 127 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGGAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54646008 54646009 54646009 exon -9 0.911111111111111 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGGAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 89 74 0.97628642560761 0.892602099673798 0.934444262640704 NA NA 0.879493802544356 0.989380478211184 NA NA 0.0967926230632542 -0.0967783785373864 NA 0.93443714037777 NA 7.12226293392293e-06 NA FALSE NA 1 9.197 . missense_variant MODERATE SPTBN1 HGNC 11275 ENST00000333896 21/31 1 deleterious(0) possibly_damaging(0.742) NA GAA A,G 8.236e-06 2:54646009 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 missense_variant 6.643862 0.97541 0.98191 0.706548 0.999044977553551 0 0.999999999947367 TRUE 4.06296e-06 ENSE00001036040_020 ENSE00001036040 020 2 54873020 54873189 + 45 90 35 T C 54873151 1278 132 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAACCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54646013 54646014 54646014 exon -4 0.966666666666667 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAACCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 164 120 0.973750050135718 0.983643753474226 0.978696901804972 NA NA 0.879493802544356 0.989380478211184 NA NA 0.0942562475913622 -0.00573672473695808 NA 0.93443714037777 NA 0.0442597614272021 NA FALSE NA 0.002 -1.254 . synonymous_variant LOW SPTBN1 HGNC 11275 ENST00000333896 21/31 1 NA ATC T,C 8.236e-06 2:54646014 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 synonymous_variant 0.605026 0.90296 0.18447 0.706548 0.551832326722313 0 0.999999999947367 TRUE 4.06336e-06 ENSE00001036040_022 ENSE00001036040 022 2 54873020 54873189 + 45 90 35 C T 54873160 1280 141 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGTCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54646022 54646023 54646023 downstr_intron 6 1.17647058823529 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGTCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 238 354 0.998783278511862 0.994552146558998 0.99666771253543 NA NA 0.879493802544356 0.989380478211184 NA NA 0.119289475967506 0.00517166834781391 NA 0.93443714037777 NA 0.0622305721576599 NA FALSE NA 0 -2.079 . splice_region_variant&intron_variant LOW SPTBN1 HGNC 11275 ENST00000333896 21/30 rs372327394 1 NA T:0.0009 T:0 GCC C,T 8.236e-05 2:54646023 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 splice_region_variant 0.063956 0.26082 0.06539 0.099367 0.697523529493117 0.127824 0.999999999947367 TRUE 6.50295e-05 ENSE00001036040_023 ENSE00001036040 023 2 54873020 54873189 + 45 90 35 C A 54873165 1281 146 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTATGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 54646027 54646028 54646028 downstr_intron 11 1.32352941176471 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTATGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 301 711 1 0.997719752959598 0.998859876479799 NA NA 0.879493802544356 0.989380478211184 NA NA 0.120506197455644 0.00833927474841412 NA 0.93443714037777 NA 0.0644227361020292 NA FALSE NA 0.554 0.074 . intron_variant MODIFIER SPTBN1 HGNC 11275 ENST00000333896 21/30 1 NA TCT C,A 1.647e-05 2:54646028 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 intron_variant 0.603868 0.4225 0.3313 0.069865 0.573440185687027 0.127824 0.999999999947367 TRUE 1.21919e-05 ENSE00001036040_024 ENSE00001036040 024 2 54873020 54873189 + 45 90 35 C T 54873170 1282 151 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTTGAGCTAGTTCTGTCTGATA 54645882 54646052 54646032 54646033 54646033 downstr_intron 16 1.47058823529412 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTTGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 415 45 0.992530897881458 1 0.996265448940729 NA NA 0.879493802544356 0.989380478211184 NA NA 0.113037095337102 0.0106195217888161 NA 0.93443714037777 NA 0.0618283085629591 NA FALSE NA 0 -2.261 . intron_variant MODIFIER SPTBN1 HGNC 11275 ENST00000333896 21/30 1 NA TCG C,T 2.471e-05 2:54646033 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 intron_variant -0.013833 0.19418 0.03379 0.069865 0.560848814190904 0.0862078 0.999999999947367 TRUE 4.06732e-05 ENSE00001036040_025 ENSE00001036040 025 2 54873020 54873189 + 45 90 35 G T 54873171 1283 152 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCTAGCTAGTTCTGTCTGATA 54645882 54646052 54646033 54646034 54646034 downstr_intron 17 1.5 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCTAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 367 445 1 0.998008439447173 0.999004219723587 NA NA 0.879493802544356 0.989380478211184 NA NA 0.120506197455644 0.00862796123598952 NA 0.93443714037777 NA 0.0645670793458169 NA FALSE NA 0 -4.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:54646034 SPTBN1 HGNC Symbol protein_coding 215160 ENSG00000115306 ENSE00001036040 intron_variant -0.608315 0.16955 0.03421 0.069865 0.53120456980528 0.0862078 0.999999999947367 TRUE 1.21987e-05 ENSE00001036040_026 ENSE00001036040 026 2 54873020 54873189 + 45 90 35 G A 54873171 1284 152 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCAAGCTAGTTCTGTCTGATA 54645882 54646052 54646033 54646034 54646034 downstr_intron 17 1.5 TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCAAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA mutant NA NA NA NA NA 77 936 0.973802398298302 0.993423505839265 0.983612952068784 NA NA 0.879493802544356 0.989380478211184 NA NA 0.0943085957539466 0.00404302762808095 NA 0.93443714037777 NA 0.0491758116910138 NA FALSE NA 0 -4.043 NA NA NA SPTBN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTBN1 NA NA NA ENSG00000115306 ENSE00001036040 intron_variant -0.40452 0.15706 0.05343 0.069865 0.587884846466806 0.0862078 0.999999999947367 TRUE 8.13246e-06 ENSE00001036040_BRK ENSE00001036040 BRK 2 54873020 54873189 + 45 90 35 A,G; T,T NA NA NA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCTTTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGCCAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA 54645882 54646052 NA NA NA NA NA NA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCTTTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGCCAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA TGTTCCTCTGAGTGGATCTGACCACTTATTTAAAATTCTTCCCAGTTGTGGGTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTGCAGCTGTTAATAAAGAAAAATCAGGTAAGCCTTTCTGCTCGAGCTAGTTCTGTCTGATA control 37 39 0 0 0 195 260 0.0585554135671076 0.109082279685378 0.083818846626243 NA NA 0.879493802544356 0.989380478211184 NA NA -0.820938388977248 -0.880298198525805 NA 0.93443714037777 NA -0.850618293751527 NA TRUE NA NA NA NA NA NA SPTBN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTBN1 NA NA NA ENSG00000115306 ENSE00001036040 NA NA NA NA NA NA NA 0.999999999947367 TRUE NA ENSE00001036596_000 ENSE00001036596 000 1 26386725 26386894 - 32 96 42 NA NA NA NA NA TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 NA NA NA NA NA NA TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT natural 69 73 0.979989350458995 0.994436296762791 0.987212823610893 2351 1829 0.959380558100015 0.889795020402538 0.924587789251276 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 0 0 0 0 0.987212823610893 0.924587789251276 0 0 0 FALSE FALSE NA NA NA NA NA TRIM63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM63 NA NA NA ENSG00000158022 ENSE00001036596 NA NA NA NA NA NA NA 4.71828632864004e-12 FALSE NA ENSE00001036596_001 ENSE00001036596 001 1 26386725 26386894 - 32 96 42 G A 26386747 786 148 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGATAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060255 26060256 26060256 downstr_intron 10 1.32258064516129 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGATAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 136 219 0.99537069829274 1 0.99768534914637 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.0359901401927246 0.110204979597462 0.987212823610893 0.924587789251276 NA 0.0730975598950935 NA FALSE NA 0 0 . intron_variant MODIFIER TRIM63 HGNC 16007 ENST00000374272 4/8 1 NA TGT G,A 8.236e-06 1:26060256 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 intron_variant 1.023833 0.20109 0.02128 0.06567 0.745912725548375 0.228633 4.71828632864004e-12 FALSE 1.22098e-05 ENSE00001036596_003 ENSE00001036596 003 1 26386725 26386894 - 32 96 42 G T 26386751 788 144 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGAGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060259 26060260 26060260 downstr_intron 6 1.19354838709677 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGAGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 335 105 1 1 1 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.110204979597462 0.987212823610893 0.924587789251276 NA 0.0754122107487237 NA FALSE NA 0.382 1.025 . splice_region_variant&intron_variant LOW TRIM63 HGNC 16007 ENST00000374272 4/8 1 NA CGC C,T 2.471e-05 1:26060260 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 splice_region_variant 1.559043 0.9743 0.48517 0.06567 0.853140908854051 0.437065 4.71828632864004e-12 FALSE 1.62762e-05 ENSE00001036596_004 ENSE00001036596 004 1 26386725 26386894 - 32 96 42 C T 26386752 789 143 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAACGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060260 26060261 26060261 downstr_intron 5 1.16129032258065 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAACGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 265 112 1 1 1 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.110204979597462 0.987212823610893 0.924587789251276 NA 0.0754122107487237 NA FALSE NA 1 7.534 . splice_region_variant&intron_variant LOW TRIM63 HGNC 16007 ENST00000374272 4/8 1 NA GCT C,T 1.647e-05 1:26060261 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 splice_region_variant 2.401158 0.99353 0.99543 0.06567 0.982115837714553 0.988323 4.71828632864004e-12 FALSE 8.13504e-06 ENSE00001036596_006 ENSE00001036596 006 1 26386725 26386894 - 32 96 42 C T 26386767 791 128 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCAAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060275 26060276 26060276 exon -11 0.895833333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCAAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 29 37 1 0.989004568940977 0.994502284470488 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.0992095485384392 0.987212823610893 0.924587789251276 NA 0.0699144952192121 NA FALSE NA 0.011 0.787 rs138298827 missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 rs138298827 1 tolerated(0.3) benign(0.007) NA T:0.0002 T:0.0002 TCG C,T 2.471e-05 1:26060276 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 3.600039 0.96958 0.73718 0.497415 0.967310394893777 0 4.71828632864004e-12 FALSE 1.62573e-05 ENSE00001036596_008 ENSE00001036596 008 1 26386725 26386894 - 32 96 42 C T 26386770 793 125 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCATCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060278 26060279 26060279 exon -14 0.864583333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCATCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 136 627 1 0.998230218119586 0.999115109059793 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.108435197717048 0.987212823610893 0.924587789251276 NA 0.0745273198085166 NA FALSE NA 1 7.719 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:26060279 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 6.226584 0.99398 0.99587 0.497415 0.998253781735923 0 4.71828632864004e-12 FALSE 1.21928e-05 ENSE00001036596_009 ENSE00001036596 009 1 26386725 26386894 - 32 96 42 C A 26386770 794 125 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCTTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060278 26060279 26060279 exon -14 0.864583333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCTTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant 11 14 1 1 1 142 363 0.998919082877186 0.996058438370379 0.997488760623783 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 0.020010649541005 0.00556370323720912 0.0395385247771713 0.106263417967841 0.987212823610893 0.924587789251276 0.012787176389107 0.0729009713725062 0.0601137949833991 FALSE FALSE 1 7.719 NA NA NA TRIM63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM63 NA NA NA ENSG00000158022 ENSE00001036596 missense_variant 6.06216 0.99423 0.99627 0.497415 0.996939528985074 0 4.71828632864004e-12 FALSE 4.06428e-06 ENSE00001036596_010 ENSE00001036596 010 1 26386725 26386894 - 32 96 42 G A 26386771 795 124 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCTGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060279 26060280 26060280 exon -15 0.854166666666667 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCTGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 242 166 1 0.999046077233689 0.999523038616845 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.109251056831151 0.987212823610893 0.924587789251276 NA 0.0749352493655682 NA FALSE NA 1 5.148 . missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 rs200823488&COSM425978 1 tolerated(1) benign(0) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 CGG G,A 1.647e-05 1:26060280 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 1.870802 0.95601 0.07026 0.497415 0.87831746402487 0 4.71828632864004e-12 FALSE 1.21923e-05 ENSE00001036596_011 ENSE00001036596 011 1 26386725 26386894 - 32 96 42 A G 26386782 796 113 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCCGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060290 26060291 26060291 exon -26 0.739583333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCCGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 18 100 1 0.996101205755726 0.998050602877863 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.106306185353188 0.987212823610893 0.924587789251276 NA 0.0734628136265866 NA FALSE NA 1 9.239 . missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 1 deleterious(0) probably_damaging(0.968) NA CAG A,G 1.647e-05 1:26060291 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 6.349882 0.99223 0.99414 0.497415 0.999147402998797 0 4.71828632864004e-12 FALSE 1.21886e-05 ENSE00001036596_012 ENSE00001036596 012 1 26386725 26386894 - 32 96 42 C T 26386806 797 89 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCATGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060314 26060315 26060315 exon 47 0.489583333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCATGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 29 726 0.991161999675007 0.992665300368498 0.991913650021753 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.0317814415749923 0.10287027996596 0.987212823610893 0.924587789251276 NA 0.0673258607704763 NA FALSE NA 1 4.31 rs139003247 missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 rs139003247 1 deleterious(0.04) probably_damaging(0.964) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 ACG C,T 4.118e-05 1:26060315 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 6.575081 0.98918 0.95304 0.446893 0.999373176062407 0 4.71828632864004e-12 FALSE 4.06233e-05 ENSE00001036596_013 ENSE00001036596 013 1 26386725 26386894 - 32 96 42 G A 26386807 798 88 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACTGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060315 26060316 26060316 exon 46 0.479166666666667 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACTGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 177 213 1 1 1 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.110204979597462 0.987212823610893 0.924587789251276 NA 0.0754122107487237 NA FALSE NA 1 1.671 rs148233667 missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 rs148233667 1 deleterious(0.04) probably_damaging(0.964) NA A:0 A:0.0001 CGG G,A 8.236e-06 1:26060316 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 7.348894 0.97901 0.91872 0.446893 0.997302089907482 0 4.71828632864004e-12 FALSE 4.06233e-06 ENSE00001036596_014 ENSE00001036596 014 1 26386725 26386894 - 32 96 42 T A 26386812 799 83 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGATTGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060320 26060321 26060321 exon 41 0.427083333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGATTGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 106 183 1 1 1 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.110204979597462 0.987212823610893 0.924587789251276 NA 0.0754122107487237 NA FALSE NA 1 7.956 . missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 1 deleterious(0) probably_damaging(0.926) NA ATT T,A 8.236e-06 1:26060321 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 6.55217 0.99211 0.99108 0.446893 0.986420341658474 0 4.71828632864004e-12 FALSE 4.06197e-06 ENSE00001036596_015 ENSE00001036596 015 1 26386725 26386894 - 32 96 42 C T 26386815 800 80 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGAGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060323 26060324 26060324 exon 38 0.395833333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGAGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 252 23 1 1 1 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.110204979597462 0.987212823610893 0.924587789251276 NA 0.0754122107487237 NA FALSE NA 1 3.323 . missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 1 deleterious(0.01) probably_damaging(1) NA CCC C,T 8.236e-06 1:26060324 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 6.599884 0.98369 0.92469 0.446893 0.993495189002967 0 4.71828632864004e-12 FALSE 4.06233e-06 ENSE00001036596_016 ENSE00001036596 016 1 26386725 26386894 - 32 96 42 C T 26386817 801 78 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCAGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060325 26060326 26060326 exon 36 0.375 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCAGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 12 108 1 0.993394242207664 0.996697121103832 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.103599221805126 0.987212823610893 0.924587789251276 NA 0.0721093318525556 NA FALSE NA 0 -4.155 . synonymous_variant LOW TRIM63 HGNC 16007 ENST00000374272 4/9 1 NA CCG C,T 0.0001071 1:26060326 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 synonymous_variant 2.523421 0.09639 0.02396 0.446893 0.697672076648918 0 4.71828632864004e-12 FALSE 7.71787e-05 ENSE00001036596_017 ENSE00001036596 017 1 26386725 26386894 - 32 96 42 G A 26386818 802 77 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGTGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060326 26060327 26060327 exon 35 0.364583333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGTGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 705 317 0.997600305875324 0.993275283293145 0.995437794584235 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.0382197477753095 0.103480262890607 0.987212823610893 0.924587789251276 NA 0.0708500053329583 NA FALSE NA 1 4.681 . missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 rs551931268 1 deleterious(0.04) probably_damaging(0.928) NA CGC G,A 7.413e-05 1:26060327 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 5.79634 0.98447 0.96582 0.446893 0.999256451211373 0 4.71828632864004e-12 FALSE 5.28146e-05 ENSE00001036596_018 ENSE00001036596 018 1 26386725 26386894 - 32 96 42 A G 26386827 803 68 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCACGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060335 26060336 26060336 exon 26 0.270833333333333 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCACGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 65 291 1 0.88458971478377 0.942294857391885 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 -0.00520530561876731 0.987212823610893 0.924587789251276 NA 0.0177070681406089 NA FALSE NA 1 6.002 . missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 rs375016972 1 tolerated(0.16) possibly_damaging(0.585) NA G:0.0002 G:0 CAT A,G 8.236e-06 1:26060336 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 3.428288 0.98669 0.97377 0.446893 0.916305659110604 0 4.71828632864004e-12 FALSE NA ENSE00001036596_019 ENSE00001036596 019 1 26386725 26386894 - 32 96 42 T A 26386828 804 67 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCTTGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060336 26060337 26060337 exon 25 0.260416666666667 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCTTGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 343 680 1 0.998474458281493 0.999237229140747 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.108679437878956 0.987212823610893 0.924587789251276 NA 0.0746494398894703 NA FALSE NA 1 4.988 . missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 rs201919997 1 tolerated(0.37) benign(0.361) NA ATG T,A 1.647e-05 1:26060337 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 2.595669 0.98708 0.97404 0.446893 0.958572987027002 0 4.71828632864004e-12 FALSE 2.03105e-05 ENSE00001036596_020 ENSE00001036596 020 1 26386725 26386894 - 32 96 42 A G 26386831 805 64 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCCCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060339 26060340 26060340 exon 22 0.229166666666667 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCCCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 230 18 0.996549956587682 0.991110464244563 0.993830210416122 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.0371693984876673 0.101315443842025 0.987212823610893 0.924587789251276 NA 0.0692424211648461 NA FALSE NA 1 2.758 . missense_variant MODERATE TRIM63 HGNC 16007 ENST00000374272 4/9 1 deleterious(0.02) possibly_damaging(0.818) NA GAG A,G 4.118e-05 1:26060340 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 missense_variant 6.098273 0.98198 0.94479 0.446893 0.99863300519633 0 4.71828632864004e-12 FALSE 2.03122e-05 ENSE00001036596_022 ENSE00001036596 022 1 26386725 26386894 - 32 96 42 C T 26386844 807 51 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTAAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060352 26060353 26060353 exon 9 0.09375 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTAAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 53 217 1 0.999472128014368 0.999736064007184 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.109677107611831 0.987212823610893 0.924587789251276 NA 0.0751482747559079 NA FALSE NA 1 1.064 . synonymous_variant LOW TRIM63 HGNC 16007 ENST00000374272 4/9 1 NA TCA C,T 8.236e-06 1:26060353 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 synonymous_variant 1.021506 0.98091 0.8982 0.446893 0.663511085193717 0 4.71828632864004e-12 FALSE 4.06342e-06 ENSE00001036596_023 ENSE00001036596 023 1 26386725 26386894 - 32 96 42 G A 26386846 808 49 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAATTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060354 26060355 26060355 exon 7 0.0729166666666667 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAATTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 136 50 1 1 1 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.110204979597462 0.987212823610893 0.924587789251276 NA 0.0754122107487237 NA FALSE NA 1 7.874 rs150788546 synonymous_variant LOW TRIM63 HGNC 16007 ENST00000374272 4/9 rs150788546 1 NA A:0 A:0.0001 AGT G,A 8.236e-06 1:26060355 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 synonymous_variant 0.661203 0.99022 0.98796 0.446893 0.715118803217802 0 4.71828632864004e-12 FALSE 4.06369e-06 ENSE00001036596_024 ENSE00001036596 024 1 26386725 26386894 - 32 96 42 G A 26386860 809 35 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCTCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060368 26060369 26060369 upstr_intron -8 -0.166666666666667 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCTCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant 82 23 0.908085912408711 0.987908976041377 0.947997444225044 230 365 1 0.989625617141934 0.994812808570967 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 -0.0719034380502839 -0.0065273207214136 0.040619441899985 0.0998305967393963 0.987212823610893 0.924587789251276 -0.0392153793858487 0.0702250193196907 0.109440398705539 FALSE FALSE 0 0.487 rs6656100 splice_region_variant&intron_variant LOW TRIM63 HGNC 16007 ENST00000374272 3/8 rs6656100 1 A:0.0166 A:0.0469 A:0.0043 NA A:0.001 A:0 A:0.0174 A:0.0379 A:0.001 GGG G,A 0.006663 1:26060369 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 splice_region_variant 1.008897 0.20619 0.01474 0.06567 0.597853750058174 0.341443 4.71828632864004e-12 FALSE 0.00580383 ENSE00001036596_025 ENSE00001036596 025 1 26386725 26386894 - 32 96 42 G T 26386861 810 34 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCACCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060369 26060370 26060370 upstr_intron -9 -0.19047619047619 TATTTGTGTCTCTCCTCTCCTGACCCCCACACCACCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant 13 18 0.997104629877178 1 0.998552314938589 619 184 1 0.984573809269909 0.992286904634954 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 0.017115279418183 0.00556370323720912 0.040619441899985 0.0947787888673709 0.987212823610893 0.924587789251276 0.0113394913276961 0.067699115383678 0.0563596240559819 FALSE FALSE 0 -0.064 . intron_variant MODIFIER TRIM63 HGNC 16007 ENST00000374272 3/8 1 NA GGG G,T 3.295e-05 1:26060370 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 intron_variant 1.29267 0.21741 0.07073 0.06567 0.825318241807084 0.341443 4.71828632864004e-12 FALSE 5.28847e-05 ENSE00001036596_026 ENSE00001036596 026 1 26386725 26386894 - 32 96 42 G T 26386862 811 33 TATTTGTGTCTCTCCTCTCCTGACCCCCACACACCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060370 26060371 26060371 upstr_intron -10 -0.214285714285714 TATTTGTGTCTCTCCTCTCCTGACCCCCACACACCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 365 524 0.999774283906538 0.99495943443116 0.997366859168849 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.0403937258065231 0.105164414028623 0.987212823610893 0.924587789251276 NA 0.0727790699175729 NA FALSE NA 0 -0.042 . intron_variant MODIFIER TRIM63 HGNC 16007 ENST00000374272 3/8 1 NA GGG G,T 1.647e-05 1:26060371 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 intron_variant 1.423275 0.23031 0.11811 0.06567 0.855523707673779 0.341443 4.71828632864004e-12 FALSE 8.1367e-06 ENSE00001036596_027 ENSE00001036596 027 1 26386725 26386894 - 32 96 42 G C 26386863 812 32 TATTTGTGTCTCTCCTCTCCTGACCCCCACAGCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060371 26060372 26060372 upstr_intron -11 -0.238095238095238 TATTTGTGTCTCTCCTCTCCTGACCCCCACAGCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant 12 14 1 1 1 NA NA NA NA NA 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 0.020010649541005 0.00556370323720912 NA NA 0.987212823610893 0.924587789251276 0.012787176389107 NA NA NA FALSE 0.342 3.713 . intron_variant MODIFIER TRIM63 HGNC 16007 ENST00000374272 3/8 rs543839297 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GGT G,C 6.589e-05 1:26060372 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 intron_variant 1.54761 0.94845 0.72814 0.06567 0.848943039278065 0.968266 4.71828632864004e-12 FALSE 2.44099e-05 ENSE00001036596_028 ENSE00001036596 028 1 26386725 26386894 - 32 96 42 G T 26386865 813 30 TATTTGTGTCTCTCCTCTCCTGACCCCCAAACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060373 26060374 26060374 upstr_intron -13 -0.285714285714286 TATTTGTGTCTCTCCTCTCCTGACCCCCAAACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 166 236 0.999253880760464 0.990427008575254 0.994840444667859 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.0398733226604491 0.100631988172717 0.987212823610893 0.924587789251276 NA 0.0702526554165829 NA FALSE NA 0.013 -0.121 . intron_variant MODIFIER TRIM63 HGNC 16007 ENST00000374272 3/8 1 NA TGT G,T 8.236e-06 1:26060374 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 intron_variant 1.073758 0.1887 0.10652 0.06567 0.835870724378378 0.341443 4.71828632864004e-12 FALSE 4.06898e-06 ENSE00001036596_029 ENSE00001036596 029 1 26386725 26386894 - 32 96 42 G A 26386869 814 26 TATTTGTGTCTCTCCTCTCCTGACCTCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060377 26060378 26060378 upstr_intron -17 -0.380952380952381 TATTTGTGTCTCTCCTCTCCTGACCTCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 122 1927 1 0.909085935171683 0.954542967585841 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.040619441899985 0.0192909147691454 0.987212823610893 0.924587789251276 NA 0.0299551783345652 NA FALSE NA 0.381 1.133 . intron_variant MODIFIER TRIM63 HGNC 16007 ENST00000374272 3/8 rs369347380 1 NA A:0 A:0.0002 GGG G,A 3.295e-05 1:26060378 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 intron_variant 1.353688 0.28606 0.54904 0.06567 0.806705637209297 0.341443 4.71828632864004e-12 FALSE 4.07176e-05 ENSE00001036596_030 ENSE00001036596 030 1 26386725 26386894 - 32 96 42 G A 26386878 815 17 TATTTGTGTCTCTCCTTTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 26060386 26060387 26060387 upstr_intron -26 -0.595238095238095 TATTTGTGTCTCTCCTTTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT mutant NA NA NA NA NA 1065 280 0.985724932469605 0.983335205762943 0.984530069116274 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 NA NA 0.0263443743695903 0.0935401853604054 0.987212823610893 0.924587789251276 NA 0.0599422798649978 NA FALSE NA 0 0.123 . intron_variant MODIFIER TRIM63 HGNC 16007 ENST00000374272 3/8 1 NA AGA G,A 8.236e-06 1:26060387 TRIM63 HGNC Symbol protein_coding 17132 ENSG00000158022 ENSE00001036596 intron_variant 1.457646 0.23578 0.167 0.06567 0.821391457382575 0.307312 4.71828632864004e-12 FALSE 4.0778e-06 ENSE00001036596_BRK ENSE00001036596 BRK 1 26386725 26386894 - 32 96 42 A,G; T,T NA NA NA TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTTTACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGCCGAGCGGACAGAATAGTCCTGCCTGGGGATT 26060233 26060403 NA NA NA NA NA NA TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTTTACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGCCGAGCGGACAGAATAGTCCTGCCTGGGGATT TATTTGTGTCTCTCCTCTCCTGACCCCCACACCCCCATCTAGACTGAACTGAATAACTGTATCTCCATGCTGGTGGCGGGGAATGACCGTGTGCAGACCATCATCACTCAGCTGGAGGATTCCCGTCGAGTGACCAAGGTGAGCGGACAGAATAGTCCTGCCTGGGGATT control 367 191 0 0 0 NA NA NA NA NA 0.979989350458995 0.994436296762791 0.959380558100015 0.889795020402538 -0.979989350458995 -0.994436296762791 NA NA 0.987212823610893 0.924587789251276 -0.987212823610893 NA NA NA TRUE NA NA NA NA NA TRIM63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM63 NA NA NA ENSG00000158022 ENSE00001036596 NA NA NA NA NA NA NA 4.71828632864004e-12 FALSE NA ENSE00001036813_000 ENSE00001036813 000 20 35335313 35335482 - 62 36 72 NA NA NA NA NA GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 NA NA NA NA NA NA GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG natural 98 31 0.965903163686617 0.998072975460725 0.981988069573671 1704 2385 0.991903901411292 0.885497018280302 0.938700459845797 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 0 0 0 0 0.981988069573671 0.938700459845797 0 0 0 FALSE FALSE NA NA NA NA NA NDRG3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG3 NA NA NA ENSG00000101079 ENSE00003541946 NA NA NA NA NA NA NA 0.919621043818656 TRUE NA ENSE00001036813_002 ENSE00001036813 002 20 35335313 35335482 - 62 36 72 T A 35335328 1005 155 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCTGTGTTTCCTTTCCTG 36706909 36707079 36706924 36706925 36706925 downstr_intron 47 1.77049180327869 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCTGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 72 597 1 0.983464835301353 0.991732417650676 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA 0.00809609858870819 0.0979678170210512 0.981988069573671 0.938700459845797 NA 0.0530319578048797 NA FALSE NA 0.574 0.117 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000373803 3/16 1 NA CTG T,A 8.236e-06 20:36706925 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 intron_variant 0.968942 0.86465 0.41905 0.262962 0.737062486823872 0.187451 0.919621043818656 TRUE 4.17195e-06 ENSE00001036813_004 ENSE00001036813 004 20 35335313 35335482 - 62 36 72 C T 35335330 1007 153 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTACAGTGTTTCCTTTCCTG 36706909 36707079 36706926 36706927 36706927 downstr_intron 45 1.73770491803279 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTACAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 230 47 1 0.999186147839881 0.999593073919941 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA 0.00809609858870819 0.11368912955958 0.981988069573671 0.938700459845797 NA 0.0608926140741439 NA FALSE NA 0.958 0.656 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000373803 3/16 1 NA GCA C,T 3.295e-05 20:36706927 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 intron_variant 0.881865 0.93117 0.4877 0.162113 0.501515089948389 0.226926 0.919621043818656 TRUE 2.07912e-05 ENSE00001036813_005 ENSE00001036813 005 20 35335313 35335482 - 62 36 72 T C 35335353 1008 130 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAGGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 36706949 36706950 36706950 downstr_intron 22 1.36065573770492 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAGGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 30 517 1 1 1 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA 0.00809609858870819 0.114502981719698 0.981988069573671 0.938700459845797 NA 0.0612995401542032 NA FALSE NA 0.001 0.013 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000373803 3/16 1 NA CTT T,C 2.471e-05 20:36706950 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 intron_variant -0.278926 0.17343 0.01755 0.162113 0.604018073621997 0.118942 0.919621043818656 TRUE 1.22017e-05 ENSE00001036813_007 ENSE00001036813 007 20 35335313 35335482 - 62 36 72 T C 35335361 1010 122 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACGAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 36706957 36706958 36706958 downstr_intron 14 1.22950819672131 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACGAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 433 102 1 1 1 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA 0.00809609858870819 0.114502981719698 0.981988069573671 0.938700459845797 NA 0.0612995401542032 NA FALSE NA 1 0.863 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000373803 3/16 1 NA TTG T,C 8.236e-06 20:36706958 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 intron_variant 1.250849 0.93365 0.7306 0.162113 0.723609950241222 0.161389 0.919621043818656 TRUE 4.06332e-06 ENSE00001036813_008 ENSE00001036813 008 20 35335313 35335482 - 62 36 72 G C 35335387 1011 96 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGAGTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 36706983 36706984 36706984 exon -13 0.666666666666667 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGAGTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 932 187 0.996093926736357 0.964698112200108 0.980396019468233 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA 0.00419002532506529 0.0792010939198062 0.981988069573671 0.938700459845797 NA 0.0416955596224358 NA FALSE NA 1 4.699 . missense_variant MODERATE NDRG3 HGNC 14462 ENST00000373803 3/17 1 tolerated(0.35) benign(0.297) NA AGT G,C 8.236e-06 20:36706984 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 missense_variant 4.144537 0.9865 0.94365 0.706298 0.995668159229477 0 0.919621043818656 TRUE 4.06144e-06 ENSE00001036813_010 ENSE00001036813 010 20 35335313 35335482 - 62 36 72 C T 35335406 1013 77 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGATACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 36707002 36707003 36707003 exon 5 0.138888888888889 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGATACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 204 429 0.950980226308518 1 0.975490113154259 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA -0.0409236751027734 0.114502981719698 0.981988069573671 0.938700459845797 NA 0.0367896533084625 NA FALSE NA 1 2.289 . missense_variant MODERATE NDRG3 HGNC 14462 ENST00000373803 3/17 1 tolerated(0.42) benign(0.066) NA ACC C,T 8.236e-06 20:36707003 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 missense_variant 2.141964 0.97708 0.8289 0.706298 0.903593136797636 0 0.919621043818656 TRUE 1.62476e-05 ENSE00001036813_011 ENSE00001036813 011 20 35335313 35335482 - 62 36 72 C G 35335425 1014 58 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTCTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 36707021 36707022 36707022 upstr_intron -15 -0.194444444444444 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTCTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 409 424 1 0.998276179609561 0.999138089804781 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA 0.00809609858870819 0.11277916132926 0.981988069573671 0.938700459845797 NA 0.0604376299589839 NA FALSE NA 1 3.443 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000373803 2/16 1 NA ACA C,G 1.647e-05 20:36707022 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 intron_variant 1.850333 0.98527 0.91765 0.053691 0.746135911303522 0.975793 0.919621043818656 TRUE 8.12698e-06 ENSE00001036813_012 ENSE00001036813 012 20 35335313 35335482 - 62 36 72 A G 35335435 1015 48 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACCGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 36707031 36707032 36707032 upstr_intron -25 -0.333333333333333 GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACCGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 429 27 0.853931278378233 1 0.926965639189117 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA -0.137972623033058 0.114502981719698 0.981988069573671 0.938700459845797 NA -0.0117348206566801 NA FALSE NA 1 2.842 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000373803 2/16 1 NA CAG A,G 1.647e-05 20:36707032 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 intron_variant 1.877115 0.98306 0.94851 0.053691 0.768772636691523 0.970837 0.919621043818656 TRUE 1.62658e-05 ENSE00001036813_013 ENSE00001036813 013 20 35335313 35335482 - 62 36 72 T C 35335454 1016 29 GAACTGAATGTGCTGCACATGTGGGGAAGCCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 36707050 36707051 36707051 upstr_intron -44 -0.597222222222222 GAACTGAATGTGCTGCACATGTGGGGAAGCCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 14 166 1 0.801521201145673 0.900760600572836 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA 0.00809609858870819 -0.083975817134629 0.981988069573671 0.938700459845797 NA -0.0379398592729604 NA FALSE NA 0.95 -0.1 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000373803 2/16 1 NA GTT T,C 8.236e-06 20:36707051 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 intron_variant 2.296261 0.95152 0.11282 0.053691 0.799672102716625 0.382627 0.919621043818656 TRUE 4.08594e-06 ENSE00001036813_014 ENSE00001036813 014 20 35335313 35335482 - 62 36 72 C T 35335460 1017 23 GAACTGAATGTGCTGCACATGTAGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 36707056 36707057 36707057 upstr_intron -50 -0.680555555555556 GAACTGAATGTGCTGCACATGTAGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG mutant NA NA NA NA NA 15 949 1 1 1 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 NA NA 0.00809609858870819 0.114502981719698 0.981988069573671 0.938700459845797 NA 0.0612995401542032 NA FALSE NA 1 3.622 . intron_variant MODIFIER NDRG3 HGNC 14462 ENST00000373803 2/16 1 NA CCA C,T 8.236e-06 20:36707057 NDRG3 HGNC Symbol protein_coding 94312 ENSG00000101079 ENSE00003541946 intron_variant 2.509372 0.9741 0.94775 0.053691 0.68286734054273 0.312764 0.919621043818656 TRUE 4.09256e-06 ENSE00001036813_BRK ENSE00001036813 BRK 20 35335313 35335482 - 62 36 72 A,G; T,T NA NA NA GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACTTAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGCCAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG 36706909 36707079 NA NA NA NA NA NA GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACTTAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGCCAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG GAACTGAATGTGCTGCACATGTGGGGAAACCATGTGGGGAAACTGACTGTGTTTTCTGTCTTCTGTTGACAGAATGGTACAAGAAACTTCCAGGACTTTGACTGTCAGGTAAGGACTGTACAAGCAAGAAGGAGGCTCTGTACAGGATCTCTGCAGTGTTTCCTTTCCTG control 228 11 0 0 0 117 459 0 0 0 0.965903163686617 0.998072975460725 0.991903901411292 0.885497018280302 -0.965903163686617 -0.998072975460725 -0.991903901411292 -0.885497018280302 0.981988069573671 0.938700459845797 -0.981988069573671 -0.938700459845797 0.0432876097278744 TRUE TRUE NA NA NA NA NA NDRG3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG3 NA NA NA ENSG00000101079 ENSE00003541946 NA NA NA NA NA NA NA 0.919621043818656 TRUE NA ENSE00001036833_000 ENSE00001036833 000 9 130217215 130217384 + 62 57 51 NA NA NA NA NA GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG 127454935 127455105 NA NA NA NA NA NA GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG natural 287 253 0.941295426852928 0.888762630036948 0.915029028444938 1375 2295 0.837881110345607 0.92349287433293 0.880686992339269 0.941295426852928 0.888762630036948 0.837881110345607 0.92349287433293 0 0 0 0 0.915029028444938 0.880686992339269 0 0 0 FALSE FALSE NA NA NA NA NA LRSAM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRSAM1 NA NA NA ENSG00000148356 ENSE00003462130 NA NA NA NA NA NA NA 2.92723845718058e-05 FALSE NA ENSE00001036833_005 ENSE00001036833 005 9 130217215 130217384 + 62 57 51 A T 130217269 2578 55 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTTTCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG 127454935 127455105 127454989 127454990 127454990 upstr_intron -8 -0.112903225806452 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTTTCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG mutant NA NA NA NA NA 42 276 1 0.998327998473656 0.999163999236828 0.941295426852928 0.888762630036948 0.837881110345607 0.92349287433293 NA NA 0.162118889654393 0.0748351241407256 0.915029028444938 0.880686992339269 NA 0.118477006897559 NA FALSE NA 0 -0.427 . splice_region_variant&intron_variant LOW LRSAM1 HGNC 25135 ENST00000300417 3/25 1 NA TAT A,T 9.884e-05 9:127454990 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003462130 splice_region_variant 0.961385 0.21459 0.06538 0.322412 0.863257985399318 0.490624 2.92723845718058e-05 FALSE 8.12156e-05 ENSE00001036833_006 ENSE00001036833 006 9 130217215 130217384 + 62 57 51 A C 130217279 2579 65 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCCAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG 127454935 127455105 127454999 127455000 127455000 exon 3 0.0526315789473684 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCCAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG mutant NA NA NA NA NA 339 57 0.952100668258359 0.95 0.95105033412918 0.941295426852928 0.888762630036948 0.837881110345607 0.92349287433293 NA NA 0.114219557912752 0.0265071256670699 0.915029028444938 0.880686992339269 NA 0.0703633417899109 NA FALSE NA 0.999 0.61 . splice_region_variant&synonymous_variant LOW LRSAM1 HGNC 25135 ENST00000300417 4/26 1 NA CAA A,C 1.647e-05 9:127455000 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003462130 splice_region_variant 1.493007 0.87362 0.62068 0.732398 0.797198072043044 0 2.92723845718058e-05 FALSE 1.2182e-05 ENSE00001036833_007 ENSE00001036833 007 9 130217215 130217384 + 62 57 51 A T 130217285 2580 71 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGATGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG 127454935 127455105 127455005 127455006 127455006 exon 9 0.157894736842105 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGATGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG mutant NA NA NA NA NA 55 151 0.865354950831249 0.819218597711926 0.842286774271587 0.941295426852928 0.888762630036948 0.837881110345607 0.92349287433293 NA NA 0.0274738404856415 -0.104274276621005 0.915029028444938 0.880686992339269 NA -0.0384002180676816 NA FALSE NA 1 2.69 . missense_variant MODERATE LRSAM1 HGNC 25135 ENST00000300417 4/26 1 deleterious(0.01) possibly_damaging(0.777) NA AAG A,T 8.236e-06 9:127455006 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003462130 missense_variant 5.596343 0.9346 0.85667 0.732398 0.998507397842529 0 2.92723845718058e-05 FALSE 4.06065e-06 ENSE00001036833_013 ENSE00001036833 013 9 130217215 130217384 + 62 57 51 A G 130217310 2586 96 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACGTCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG 127454935 127455105 127455030 127455031 127455031 exon -24 0.596491228070175 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACGTCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG mutant NA NA NA NA NA 43 338 0.991055280093006 0.99416258881212 0.992608934452563 0.941295426852928 0.888762630036948 0.837881110345607 0.92349287433293 NA NA 0.153174169747399 0.0706697144791895 0.915029028444938 0.880686992339269 NA 0.111921942113294 NA FALSE NA 1 7.041 . missense_variant MODERATE LRSAM1 HGNC 25135 ENST00000300417 4/26 1 tolerated(0.11) benign(0.085) NA CAT A,G 8.236e-06 9:127455031 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003462130 missense_variant 1.618507 0.93453 0.93299 0.732398 0.998439423373937 0 2.92723845718058e-05 FALSE 1.62425e-05 ENSE00001036833_016 ENSE00001036833 016 9 130217215 130217384 + 62 57 51 T C 130217326 2589 112 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCCCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG 127454935 127455105 127455046 127455047 127455047 exon -8 0.87719298245614 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCCCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG mutant NA NA NA NA NA 12 19 0.8 0.807613982002064 0.803806991001032 0.941295426852928 0.888762630036948 0.837881110345607 0.92349287433293 NA NA -0.0378811103456071 -0.115878892330866 0.915029028444938 0.880686992339269 NA -0.0768800013382365 NA FALSE NA 1 6.079 . missense_variant MODERATE LRSAM1 HGNC 25135 ENST00000300417 4/26 1 deleterious(0) probably_damaging(0.982) NA CTC T,C 1.647e-05 9:127455047 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003462130 missense_variant 5.721479 0.93275 0.90539 0.732398 0.999116792968747 0 2.92723845718058e-05 FALSE 8.12123e-06 ENSE00001036833_017 ENSE00001036833 017 9 130217215 130217384 + 62 57 51 G A 130217344 2590 130 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGAATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG 127454935 127455105 127455064 127455065 127455065 downstr_intron 11 1.22 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGAATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG mutant NA NA NA NA NA 28 17 0.95 0.95 0.95 0.941295426852928 0.888762630036948 0.837881110345607 0.92349287433293 NA NA 0.112118889654393 0.0265071256670698 0.915029028444938 0.880686992339269 NA 0.0693130076607313 NA FALSE NA 0.051 -0.008 . intron_variant MODIFIER LRSAM1 HGNC 25135 ENST00000300417 4/25 rs372244339 1 NA A:0.0002 A:0 GGA G,A 8.236e-06 9:127455065 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003462130 intron_variant -0.109125 0.17789 0.05637 0.088506 0.775773520682763 0.351052 2.92723845718058e-05 FALSE 8.12216e-06 ENSE00001036833_020 ENSE00001036833 020 9 130217215 130217384 + 62 57 51 C T 130217356 2593 142 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGTTGTGAATTGGATCTGTCCCGTTTTCTTG 127454935 127455105 127455076 127455077 127455077 downstr_intron 23 1.46 GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGTTGTGAATTGGATCTGTCCCGTTTTCTTG GCTTGTCCACTCTGCAAAGGTGTTTTGTCTTAATACTTTTTAAAAATTCTTTTTATCCTTAGGCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAGCTCTCAGAGGTAAACTGAGGATAGTGTTGGGCTGTGAATTGGATCTGTCCCGTTTTCTTG mutant NA NA NA NA NA 348 584 0.968743430942566 0.975251723071407 0.971997577006987 0.941295426852928 0.888762630036948 0.837881110345607 0.92349287433293 NA NA 0.130862320596959 0.0517588487384771 0.915029028444938 0.880686992339269 NA 0.0913105846677181 NA FALSE NA 0 -0.212 . intron_variant MODIFIER LRSAM1 HGNC 25135 ENST00000300417 4/25 rs570989650 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCT C,T 7.413e-05 9:127455077 LRSAM1 HGNC Symbol protein_coding 52015 ENSG00000148356 ENSE00003462130 intron_variant 0.414066 0.16111 0.05769 0.088506 0.567325564961266 0.361043 2.92723845718058e-05 FALSE 0.000101534 ENSE00001037197_000 ENSE00001037197 000 2 31596701 31596870 - 38 84 48 NA NA NA NA NA AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 NA NA NA NA NA NA AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT natural 95 109 0.957975590132478 0.987683610294334 0.972829600213406 5948 7066 0.785799483411249 0.981122342386666 0.883460912898957 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 0 0 0 0 0.972829600213406 0.883460912898957 0 0 0 FALSE FALSE NA NA NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037197 NA NA NA NA NA NA NA 1.55760351242192e-13 FALSE NA ENSE00001037197_001 ENSE00001037197 001 2 31596701 31596870 - 38 84 48 T C 31596714 1014 157 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAGTATCAGGGGACTT 31373834 31374004 31373847 31373848 31373848 downstr_intron 25 1.67567567567568 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAGTATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1191 1484 0.99927210508699 0.995808448354303 0.997540276720647 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.213472621675741 0.0146861059676378 0.972829600213406 0.883460912898957 NA 0.114079363821689 NA FALSE NA 0 -0.194 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 16/35 1 NA ATT T 8.237e-06 2:31373848 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant 0.211897 0.17701 0.03726 0.061011 0.556809151669029 0.0448725 1.55760351242192e-13 FALSE 4.07927e-06 ENSE00001037197_002 ENSE00001037197 002 2 31596701 31596870 - 38 84 48 C T 31596719 1015 152 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATAGCTAATATCAGGGGACTT 31373834 31374004 31373852 31373853 31373853 downstr_intron 20 1.54054054054054 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATAGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 109 2338 0.955238866575031 0.999259515176181 0.977249190875606 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.169439383163783 0.0181371727895158 0.972829600213406 0.883460912898957 NA 0.0937882779766493 NA FALSE NA 0 -1.05 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 16/35 1 NA CCA C 8.236e-06 2:31373853 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant 0.195961 0.16665 0.02689 0.061011 0.483127113642485 0.0448725 1.55760351242192e-13 FALSE 4.07445e-06 ENSE00001037197_003 ENSE00001037197 003 2 31596701 31596870 - 38 84 48 C T 31596723 1016 148 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTATATGGCTAATATCAGGGGACTT 31373834 31374004 31373856 31373857 31373857 downstr_intron 16 1.43243243243243 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTATATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 891 3611 0.817574249497926 0.974974412560963 0.896274331029445 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.0317747660866775 -0.00614792982570245 0.972829600213406 0.883460912898957 NA 0.0128134181304875 NA FALSE NA 0 -2.138 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 16/35 1 NA ACA C 1.647e-05 2:31373857 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant -0.131011 0.14078 0.01676 0.061011 0.446813212219525 0.0448725 1.55760351242192e-13 FALSE 8.14306e-06 ENSE00001037197_004 ENSE00001037197 004 2 31596701 31596870 - 38 84 48 A G 31596724 1017 147 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGCGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373857 31373858 31373858 downstr_intron 15 1.40540540540541 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGCGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 2994 403 0.998811870889118 0.999214312767991 0.999013091828555 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.21301238747787 0.0180919703813256 0.972829600213406 0.883460912898957 NA 0.115552178929598 NA FALSE NA 0 -2.293 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 16/35 rs374042443 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 CAC A 4.118e-05 2:31373858 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant -0.305102 0.14072 0.03737 0.061011 0.239107790389629 0.0448725 1.55760351242192e-13 FALSE 5.69838e-05 ENSE00001037197_005 ENSE00001037197 005 2 31596701 31596870 - 38 84 48 C T 31596730 1018 141 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACAGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373863 31373864 31373864 downstr_intron 9 1.24324324324324 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACAGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1441 520 0.99780436212895 0.987321181997837 0.992562772063394 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.212004878717702 0.00619883961117162 0.972829600213406 0.883460912898957 NA 0.109101859164437 NA FALSE NA 0 -0.091 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 16/35 rs375864855 1 NA T:0.0002 T:0 CCG T 3.295e-05 2:31373864 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant 0.047558 0.11485 0.00127 0.061011 0.417355279153709 0.052078 1.55760351242192e-13 FALSE 2.03416e-05 ENSE00001037197_006 ENSE00001037197 006 2 31596701 31596870 - 38 84 48 G A 31596731 1019 140 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTATGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373864 31373865 31373865 downstr_intron 8 1.21621621621622 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTATGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 807 3583 0.99376244449905 0.947239820849192 0.970501132674122 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.207962961087802 -0.0338825215374732 0.972829600213406 0.883460912898957 NA 0.0870402197751644 NA FALSE NA 0 -0.542 rs17395224 splice_region_variant&intron_variant LOW XDH HGNC 12805 ENST00000379416 16/35 rs17395224 1 A:0.0132 A:0.0053 A:0.0159 NA A:0 A:0.0457 A:0.002 A:0.0066 A:0.034 CGT G 0.022 2:31373865 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 splice_region_variant 0.159715 0.18321 0.01914 0.061011 0.307426531868243 0.0528747 1.55760351242192e-13 FALSE 0.0223242 ENSE00001037197_007 ENSE00001037197 007 2 31596701 31596870 - 38 84 48 C T 31596734 1020 137 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAATACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373867 31373868 31373868 downstr_intron 5 1.13513513513514 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAATACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 613 331 0.998747713705592 0.974991873222507 0.98686979346405 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.212948230294344 -0.0061304691641586 0.972829600213406 0.883460912898957 NA 0.103408880565093 NA FALSE NA 1 5.323 . splice_region_variant&intron_variant LOW XDH HGNC 12805 ENST00000379416 16/35 1 NA ACT C 8.236e-06 2:31373868 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 splice_region_variant 2.303092 0.99123 0.99054 0.061011 0.972114376297148 0.970764 1.55760351242192e-13 FALSE 4.06669e-06 ENSE00001037197_008 ENSE00001037197 008 2 31596701 31596870 - 38 84 48 A T 31596737 1021 134 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGAGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373870 31373871 31373871 downstr_intron 2 1.05405405405405 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGAGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 495 557 0.998759373142851 0.992544884987751 0.995652129065301 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.212959889731602 0.0114225426010856 0.972829600213406 0.883460912898957 NA 0.112191216166344 NA FALSE NA 1 6.734 . splice_donor_variant HIGH XDH HGNC 12805 ENST00000379416 16/35 1 NA HC CAC A 8.236e-06 2:31373871 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 splice_donor_variant 4.634597 0.99039 0.99425 0.061011 0.995247289621085 0.953744 1.55760351242192e-13 FALSE 4.06603e-06 ENSE00001037197_009 ENSE00001037197 009 2 31596701 31596870 - 38 84 48 C G 31596738 1022 133 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAACTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373871 31373872 31373872 downstr_intron 1 1.02702702702703 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAACTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1854 1480 0.978189876945217 0.852032094087393 0.915110985516305 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.192390393533968 -0.129090248299273 0.972829600213406 0.883460912898957 NA 0.0316500726173476 NA FALSE NA 1 5.64 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:31373872 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 splice_donor_variant 5.375827 0.99164 0.99207 0.061011 0.995427328270641 0.971366 1.55760351242192e-13 FALSE 0.000451385 ENSE00001037197_010 ENSE00001037197 010 2 31596701 31596870 - 38 84 48 C T 31596738 1023 133 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAATGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373871 31373872 31373872 downstr_intron 1 1.02702702702703 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAATGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 401 637 0.997300743349469 1 0.998650371674735 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.21150125993822 0.0188776576133344 0.972829600213406 0.883460912898957 NA 0.115189458775777 NA FALSE NA 1 5.64 NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037197 splice_donor_variant 5.486431 0.99123 0.9913 0.061011 0.995445683008395 0.971366 1.55760351242192e-13 FALSE 1.21996e-05 ENSE00001037197_011 ENSE00001037197 011 2 31596701 31596870 - 38 84 48 T G 31596740 1024 131 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCCAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373873 31373874 31373874 exon -2 0.988095238095238 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCCAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1029 140 0.964912741810283 1 0.982456370905141 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.179113258399034 0.0188776576133344 0.972829600213406 0.883460912898957 NA 0.0989954580061842 NA FALSE NA 1 5.795 . missense_variant&splice_region_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 1 deleterious(0) possibly_damaging(0.812) NA TTG T 8.236e-06 2:31373874 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 5.512742 0.98967 0.99194 0.487112 0.994958643793664 0 1.55760351242192e-13 FALSE 4.06597e-06 ENSE00001037197_012 ENSE00001037197 012 2 31596701 31596870 - 38 84 48 G A 31596745 1025 126 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTTTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373878 31373879 31373879 exon -7 0.928571428571429 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTTTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1292 985 0.85869675295729 0.943110504338722 0.900903628648006 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.0728972695460414 -0.0380118380479433 0.972829600213406 0.883460912898957 NA 0.017442715749049 NA FALSE NA 0.99 0.096 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 16/36 1 NA AGA G 1.647e-05 2:31373879 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 synonymous_variant 0.543478 0.9645 0.78854 0.487112 0.609780769463657 0 1.55760351242192e-13 FALSE 8.12975e-06 ENSE00001037197_013 ENSE00001037197 013 2 31596701 31596870 - 38 84 48 A T 31596746 1026 125 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCACTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373879 31373880 31373880 exon -8 0.916666666666667 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCACTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 315 328 0.989031027444302 1 0.994515513722151 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.203231544033053 0.0188776576133344 0.972829600213406 0.883460912898957 NA 0.111054600823194 NA FALSE NA 1 6.734 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 1 tolerated(0.18) possibly_damaging(0.491) NA GAG A 1.647e-05 2:31373880 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 3.221148 0.99039 0.99425 0.487112 0.972211204744886 0 1.55760351242192e-13 FALSE 8.12916e-06 ENSE00001037197_014 ENSE00001037197 014 2 31596701 31596870 - 38 84 48 G C 31596747 1027 124 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGGTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373880 31373881 31373881 exon -9 0.904761904761905 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGGTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 821 895 0.835049552002017 0.991424841487158 0.913237196744588 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.0492500685907685 0.0103024991004926 0.972829600213406 0.883460912898957 NA 0.0297762838456306 NA FALSE NA 1 5.41 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 1 tolerated(0.28) benign(0.009) NA AGC G 8.236e-06 2:31373881 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 1.193482 0.992 0.98982 0.487112 0.940966543832197 0 1.55760351242192e-13 FALSE 8.12909e-06 ENSE00001037197_015 ENSE00001037197 015 2 31596701 31596870 - 38 84 48 C A 31596748 1028 123 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCATCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373881 31373882 31373882 exon -10 0.892857142857143 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCATCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1313 859 0.99220467132813 0.985819840070897 0.989012255699514 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.206405187916881 0.00469749768423178 0.972829600213406 0.883460912898957 NA 0.105551342800557 NA FALSE NA 1 1.228 rs183162063 missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 rs183162063&COSM1327101 1 deleterious(0.03) benign(0.02) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GCT C 8.236e-06 2:31373882 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 2.458779 0.97512 0.92936 0.487112 0.938459472743601 0 1.55760351242192e-13 FALSE 2.03224e-05 ENSE00001037197_016 ENSE00001037197 016 2 31596701 31596870 - 38 84 48 C T 31596756 1029 115 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCAATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373889 31373890 31373890 exon -18 0.797619047619048 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCAATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1443 1535 0.929774005424184 0.992902247879573 0.961338126651878 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.143974522012935 0.0117799054929077 0.972829600213406 0.883460912898957 NA 0.0778772137529213 NA FALSE NA 1 3.172 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 rs201792967 1 tolerated(0.45) benign(0) T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 TCG C 0.0008319 2:31373890 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 1.793284 0.91663 0.01347 0.487112 0.42452605715048 0 1.55760351242192e-13 FALSE 0.000796547 ENSE00001037197_017 ENSE00001037197 017 2 31596701 31596870 - 38 84 48 G A 31596757 1030 114 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCTGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373890 31373891 31373891 exon -19 0.785714285714286 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCTGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 4968 1298 0.976038600372262 0.940522777703843 0.958280689038053 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.190239116961014 -0.0405995646828227 0.972829600213406 0.883460912898957 NA 0.0748197761390955 NA FALSE NA 1 2.082 rs150918237 synonymous_variant LOW XDH HGNC 12805 ENST00000379416 16/36 rs150918237 1 NA A:0 A:0.0001 CGG G 2.471e-05 2:31373891 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 synonymous_variant 0.840307 0.97435 0.90861 0.487112 0.450264534931364 0 1.55760351242192e-13 FALSE 1.62569e-05 ENSE00001037197_018 ENSE00001037197 018 2 31596701 31596870 - 38 84 48 G T 31596762 1031 109 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCACAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373895 31373896 31373896 exon -24 0.726190476190476 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCACAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 2746 578 0.985004747146677 0.999934130825155 0.992469438985916 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.199205263735428 0.0188117884384899 0.972829600213406 0.883460912898957 NA 0.109008526086959 NA FALSE NA 0.998 1.982 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:31373896 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant -0.181364 0.38484 0.68499 0.487112 0.846006456150046 0 1.55760351242192e-13 FALSE 0.000211336 ENSE00001037197_019 ENSE00001037197 019 2 31596701 31596870 - 38 84 48 G A 31596762 1032 109 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCTCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373895 31373896 31373896 exon -24 0.726190476190476 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCTCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1554 4604 0.998562142713742 0.998596550539423 0.998579346626582 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.212762659302493 0.0174742081527572 0.972829600213406 0.883460912898957 NA 0.115118433727625 NA FALSE NA 0.998 1.982 NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037197 missense_variant 0.113509 0.39804 0.85268 0.487112 0.81698305085203 0 1.55760351242192e-13 FALSE 0.000768124 ENSE00001037197_020 ENSE00001037197 020 2 31596701 31596870 - 38 84 48 G A 31596763 1033 108 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCTCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373896 31373897 31373897 exon -25 0.714285714285714 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCTCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1243 1284 0.999511675104452 0.99682024609546 0.998165960599956 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.213712191693203 0.0156979037087942 0.972829600213406 0.883460912898957 NA 0.114705047700999 NA FALSE NA 0.896 -0.082 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 16/36 rs561567798 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGG G 8.236e-06 2:31373897 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 synonymous_variant -0.333833 0.31239 0.09703 0.487112 0.423641731144273 0 1.55760351242192e-13 FALSE 4.06339e-06 ENSE00001037197_021 ENSE00001037197 021 2 31596701 31596870 - 38 84 48 G A 31596764 1034 107 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCTCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373897 31373898 31373898 exon -26 0.702380952380952 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCTCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 778 3123 0.995137308998355 0.997913988605921 0.996525648802138 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.209337825587106 0.0167916462192553 0.972829600213406 0.883460912898957 NA 0.113064735903181 NA FALSE NA 1 5.197 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 1 tolerated(0.44) benign(0.027) NA GGG G 8.236e-06 2:31373898 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 1.223254 0.98251 0.97998 0.487112 0.371636506122833 0 1.55760351242192e-13 FALSE 8.12704e-06 ENSE00001037197_022 ENSE00001037197 022 2 31596701 31596870 - 38 84 48 C A 31596778 1035 93 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTTTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373911 31373912 31373912 exon -40 0.535714285714286 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTTTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 2557 624 0.98367629706352 0.999317576967752 0.991496937015636 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.197876813652271 0.0181952345810862 0.972829600213406 0.883460912898957 NA 0.108036024116679 NA FALSE NA 0.994 0.138 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 16/36 1 NA ACA C 9.06e-05 2:31373912 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 synonymous_variant 1.205022 0.9741 0.678 0.487112 0.412514725741922 0 1.55760351242192e-13 FALSE 0.000182869 ENSE00001037197_023 ENSE00001037197 023 2 31596701 31596870 - 38 84 48 G C 31596780 1036 91 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTAGTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373913 31373914 31373914 exon -42 0.511904761904762 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTAGTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 596 431 1 0.985903299732534 0.992951649866267 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.214200516588751 0.00478095734586836 0.972829600213406 0.883460912898957 NA 0.10949073696731 NA FALSE NA 0.998 2.697 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 1 tolerated(0.3) benign(0.005) NA AGT G 8.236e-06 2:31373914 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 0.765085 0.98006 0.93897 0.553676 0.817371790136759 0 1.55760351242192e-13 FALSE 4.06375e-06 ENSE00001037197_024 ENSE00001037197 024 2 31596701 31596870 - 38 84 48 A G 31596784 1037 87 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACCTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373917 31373918 31373918 exon 39 0.464285714285714 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACCTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 797 1112 0.997180611351483 0.996577262112793 0.996878936732138 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.211381127940234 0.0154549197261274 0.972829600213406 0.883460912898957 NA 0.113418023833181 NA FALSE NA 0.001 -0.479 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 16/36 1 NA AAG A 8.236e-06 2:31373918 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 synonymous_variant -1.440233 0.16524 0.03842 0.553676 0.309332047180332 0 1.55760351242192e-13 FALSE 4.06336e-06 ENSE00001037197_025 ENSE00001037197 025 2 31596701 31596870 - 38 84 48 T G 31596787 1038 84 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCCACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373920 31373921 31373921 exon 36 0.428571428571429 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCCACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 353 964 0.989178001096275 0.999671742191384 0.994424871643829 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.203378517685026 0.0185493998047181 0.972829600213406 0.883460912898957 NA 0.110963958744872 NA FALSE NA 1 0.809 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 16/36 1 NA TTG T 1.647e-05 2:31373921 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 synonymous_variant -0.443489 0.92862 0.06526 0.553676 0.286978954447939 0 1.55760351242192e-13 FALSE 2.03193e-05 ENSE00001037197_026 ENSE00001037197 026 2 31596701 31596870 - 38 84 48 G A 31596788 1039 83 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGTAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373921 31373922 31373922 exon 35 0.416666666666667 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGTAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1259 1728 0.995760599408811 0.947965444395498 0.971863021902155 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.209961115997563 -0.0331568979911674 0.972829600213406 0.883460912898957 NA 0.0884021090031977 NA FALSE NA 1 7.047 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 1 tolerated(0.07) possibly_damaging(0.721) NA TGC G 8.236e-06 2:31373922 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 4.128109 0.99238 0.99406 0.553676 0.998018462813985 0 1.55760351242192e-13 FALSE 4.06451e-06 ENSE00001037197_027 ENSE00001037197 027 2 31596701 31596870 - 38 84 48 C T 31596795 1040 76 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCACCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373928 31373929 31373929 exon 28 0.333333333333333 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCACCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 24 536 1 0.99813232811223 0.999066164056115 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.214200516588751 0.0170099857255646 0.972829600213406 0.883460912898957 NA 0.115605251157158 NA FALSE NA 0.03 -0.015 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 1 tolerated(0.57) benign(0.001) NA GCG C 6.589e-05 2:31373929 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 0.422576 0.23223 0.05527 0.553676 0.555859650799675 0 1.55760351242192e-13 FALSE 5.28666e-05 ENSE00001037197_028 ENSE00001037197 028 2 31596701 31596870 - 38 84 48 G A 31596796 1041 75 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTTGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373929 31373930 31373930 exon 27 0.321428571428571 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTTGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 3018 1805 0.972128051504671 0.988116168501738 0.980122110003204 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.186328568093422 0.00699382611507215 0.972829600213406 0.883460912898957 NA 0.096661197104247 NA FALSE NA 0.006 -0.121 rs140651875 synonymous_variant LOW XDH HGNC 12805 ENST00000379416 16/36 rs140651875&COSM185354 1 A:0.0028 A:0.0068 A:0.0072 NA A:0 A:0 A:0 A:0.0068 A:0 CGA G 0.0007825 2:31373930 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 synonymous_variant 0.616719 0.11995 0.00537 0.553676 0.41703273423802 0 1.55760351242192e-13 FALSE 0.000622346 ENSE00001037197_029 ENSE00001037197 029 2 31596701 31596870 - 38 84 48 T C 31596801 1042 70 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCGCTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373934 31373935 31373935 exon 22 0.261904761904762 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCGCTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1469 2855 0.992999418512054 0.992222475302052 0.992610946907053 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.207199935100805 0.0111001329153866 0.972829600213406 0.883460912898957 NA 0.109150034008096 NA FALSE NA 0.99 1.046 rs149150797 missense_variant MODERATE XDH HGNC 12805 ENST00000379416 16/36 1 tolerated(0.44) benign(0.027) NA GTG T 8.236e-06 2:31373935 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 missense_variant 0.737725 0.97602 0.88485 0.553676 0.788730649113562 0 1.55760351242192e-13 FALSE NA ENSE00001037197_030 ENSE00001037197 030 2 31596701 31596870 - 38 84 48 C A 31596808 1043 63 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTTGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373941 31373942 31373942 exon 15 0.178571428571429 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTTGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 462 896 1 0.99823932379572 0.99911966189786 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.214200516588751 0.017116981409054 0.972829600213406 0.883460912898957 NA 0.115658748998903 NA FALSE NA 1 0.546 rs117399514 synonymous_variant LOW XDH HGNC 12805 ENST00000379416 16/36 rs117399514 1 A:0.0016 A:0 A:0 NA A:0.0079 A:0 A:0 CCA C 0.0004448 2:31373942 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 synonymous_variant 1.319794 0.98717 0.87337 0.553676 0.626918828135913 0 1.55760351242192e-13 FALSE 0.000533466 ENSE00001037197_031 ENSE00001037197 031 2 31596701 31596870 - 38 84 48 G A 31596825 1044 46 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCATAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373958 31373959 31373959 upstr_intron -3 -0.0416666666666667 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCATAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 123 534 1 0.901309728439822 0.950654864219911 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.214200516588751 -0.0798126139468438 0.972829600213406 0.883460912898957 NA 0.0671939513209538 NA FALSE NA 1 4.058 . splice_region_variant&intron_variant LOW XDH HGNC 12805 ENST00000379416 15/35 1 NA TGT G 8.237e-06 2:31373959 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 splice_region_variant 1.302232 0.98296 0.84478 0.06567 0.78756967275417 0.965675 1.55760351242192e-13 FALSE 4.08978e-06 ENSE00001037197_032 ENSE00001037197 032 2 31596701 31596870 - 38 84 48 G A 31596828 1045 43 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTTCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373961 31373962 31373962 upstr_intron -6 -0.104166666666667 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTTCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 905 804 0.936273343312594 0.999810438163396 0.968041890737995 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.150473859901346 0.0186880957767299 0.972829600213406 0.883460912898957 NA 0.0845809778390379 NA FALSE NA 0.999 2.23 . splice_region_variant&intron_variant LOW XDH HGNC 12805 ENST00000379416 15/35 1 NA GGA G 1.647e-05 2:31373962 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 splice_region_variant 0.397261 0.75434 0.81129 0.06567 0.521782510298086 0.228577 1.55760351242192e-13 FALSE 1.63747e-05 ENSE00001037197_033 ENSE00001037197 033 2 31596701 31596870 - 38 84 48 C T 31596832 1046 39 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTATCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373965 31373966 31373966 upstr_intron -10 -0.1875 AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTATCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 485 133 0.960835689190993 1 0.980417844595497 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.175036205779745 0.0188776576133344 0.972829600213406 0.883460912898957 NA 0.0969569316965395 NA FALSE NA 0.001 -1.025 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 15/35 1 NA ACA C 8.237e-06 2:31373966 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant 0.709902 0.18452 0.03681 0.06567 0.484044870343113 0.0882499 1.55760351242192e-13 FALSE 4.10533e-06 ENSE00001037197_034 ENSE00001037197 034 2 31596701 31596870 - 38 84 48 G A 31596845 1047 26 AGTGATTGAAATATAATCCTGGTCATCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373978 31373979 31373979 upstr_intron -23 -0.458333333333333 AGTGATTGAAATATAATCCTGGTCATCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1268 1585 0.980515593794083 0.998692794665187 0.989604194229635 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.194716110382834 0.0175704522785218 0.972829600213406 0.883460912898957 NA 0.106143281330678 NA FALSE NA 0.003 0.387 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:31373979 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant 0.263296 0.22525 0.05401 0.06567 0.59769517591799 0.0477024 1.55760351242192e-13 FALSE 4.19343e-06 ENSE00001037197_035 ENSE00001037197 035 2 31596701 31596870 - 38 84 48 G C 31596845 1048 26 AGTGATTGAAATATAATCCTGGTCAGCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373978 31373979 31373979 upstr_intron -23 -0.458333333333333 AGTGATTGAAATATAATCCTGGTCAGCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 1309 2325 0.996447051766694 0.993720932741415 0.995083992254055 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.210647568355446 0.0125985903547491 0.972829600213406 0.883460912898957 NA 0.111623079355097 NA FALSE NA 0.003 0.387 NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037197 intron_variant -0.150448 0.23644 0.09511 0.06567 0.529434779345089 0.0477024 1.55760351242192e-13 FALSE 2.09672e-05 ENSE00001037197_036 ENSE00001037197 036 2 31596701 31596870 - 38 84 48 G A 31596847 1049 24 AGTGATTGAAATATAATCCTGGTTACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373980 31373981 31373981 upstr_intron -25 -0.5 AGTGATTGAAATATAATCCTGGTTACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 279 1665 0.990558237437221 0.997479190042213 0.994018713739717 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.204758754025972 0.0163568476555478 0.972829600213406 0.883460912898957 NA 0.11055780084076 NA FALSE NA 0 -0.422 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 15/35 1 NA TGA G 8.238e-06 2:31373981 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant 0.241095 0.19602 0.0285 0.06567 0.577943555705524 0.0477024 1.55760351242192e-13 FALSE NA ENSE00001037197_037 ENSE00001037197 037 2 31596701 31596870 - 38 84 48 T C 31596860 1050 11 AGTGATTGAAGTATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 31373993 31373994 31373994 upstr_intron -38 -0.770833333333333 AGTGATTGAAGTATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT mutant NA NA NA NA NA 2270 2211 0.998606292476061 0.997055869655402 0.997831081065732 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 NA NA 0.212806809064812 0.0159335272687369 0.972829600213406 0.883460912898957 NA 0.114370168166774 NA FALSE NA 0 -0.585 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 15/35 1 NA ATT T 8.244e-06 2:31373994 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037197 intron_variant 0.172254 0.22003 0.03408 0.06567 0.730179665664556 0.0477024 1.55760351242192e-13 FALSE 4.50365e-06 ENSE00001037197_BRK ENSE00001037197 BRK 2 31596701 31596870 - 38 84 48 A,G; T,T NA NA NA AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACTTAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAACCGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT 31373834 31374004 NA NA NA NA NA NA AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACTTAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAACCGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT AGTGATTGAAATATAATCCTGGTCACCTCTGTTTTCTTGTCTCCACAGAAGTGTGGTAAACTGGACCCCACTTTCGCCAGTGCAACTTTACTGTTTCAGAAAGACCCCCCAGCCGATGTCCAGCTCTTCCAAGTGAGTACGGTCAGTGTATGGCTAATATCAGGGGACTT control 129 46 0 0.0285613980511798 0.0142806990255899 718 1714 0 0 0 0.957975590132478 0.987683610294334 0.785799483411249 0.981122342386666 -0.957975590132478 -0.959122212243155 -0.785799483411249 -0.981122342386666 0.972829600213406 0.883460912898957 -0.958548901187816 -0.883460912898957 0.0750879882888593 TRUE TRUE NA NA NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037197 NA NA NA NA NA NA NA 1.55760351242192e-13 FALSE NA ENSE00001037219_000 ENSE00001037219 000 2 31586988 31587157 - 36 87 47 NA NA NA NA NA GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 NA NA NA NA NA NA GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC natural NA NA NA NA NA 2867 2320 0.946813429589392 0.981044190121985 0.963928809855688 NA NA 0.946813429589392 0.981044190121985 NA NA 0 0 NA 0.963928809855688 NA 0 NA FALSE NA NA NA NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037219 NA NA NA NA NA NA NA 1.55760351242192e-13 FALSE NA ENSE00001037219_001 ENSE00001037219 001 2 31586988 31587157 - 36 87 47 G A 31587003 985 155 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGTCCCTGCACCCAGAGC 31364121 31364291 31364136 31364137 31364137 downstr_intron 21 1.6 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGTCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 484 236 0.998459369533524 1 0.999229684766762 NA NA 0.946813429589392 0.981044190121985 NA NA 0.051645939944132 0.0189558098780147 NA 0.963928809855688 NA 0.0353008749110734 NA FALSE NA 0.001 -0.269 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 24/35 1 NA GGC G 8.236e-06 2:31364137 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 intron_variant 0.265322 0.27955 0.04451 0.061011 0.747188620274982 0.0851235 1.55760351242192e-13 FALSE 8.12744e-06 ENSE00001037219_002 ENSE00001037219 002 2 31586988 31587157 - 36 87 47 C T 31587004 986 154 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCACCCCTGCACCCAGAGC 31364121 31364291 31364137 31364138 31364138 downstr_intron 20 1.57142857142857 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCACCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 302 76 1 1 1 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0531865704106084 0.0189558098780147 NA 0.963928809855688 NA 0.0360711901443115 NA FALSE NA 0.001 -0.407 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 24/35 rs370658508 1 T:0.0006 T:0 T:0.0043 NA T:0 T:0 T:0 T:0.0002 T:0.0002 GCG C 6.589e-05 2:31364138 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 intron_variant -0.170291 0.20295 0.0035 0.061011 0.560117067968999 0.0851235 1.55760351242192e-13 FALSE 8.5345e-05 ENSE00001037219_004 ENSE00001037219 004 2 31586988 31587157 - 36 87 47 C G 31587010 988 148 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTCCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364143 31364144 31364144 downstr_intron 14 1.4 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTCCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 42 1060 1 1 1 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0531865704106084 0.0189558098780147 NA 0.963928809855688 NA 0.0360711901443115 NA FALSE NA 0 -1.635 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 24/35 1 NA GCA C 8.236e-06 2:31364144 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 intron_variant -0.10264 0.20719 0.02213 0.061011 0.528217112982625 0.0851235 1.55760351242192e-13 FALSE 4.06286e-06 ENSE00001037219_005 ENSE00001037219 005 2 31586988 31587157 - 36 87 47 G T 31587013 989 145 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGAACTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364146 31364147 31364147 downstr_intron 11 1.31428571428571 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGAACTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 71 906 0.958703126071475 1 0.979351563035737 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0118896964820834 0.0189558098780147 NA 0.963928809855688 NA 0.015422753180049 NA FALSE NA 0 -0.807 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 24/35 rs566391108 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GGT G 2.471e-05 2:31364147 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 intron_variant 0.426712 0.2321 0.07294 0.061011 0.58443336444993 0.195985 1.55760351242192e-13 FALSE 4.0626e-05 ENSE00001037219_006 ENSE00001037219 006 2 31586988 31587157 - 36 87 47 C T 31587016 990 142 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAAGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364149 31364150 31364150 downstr_intron 8 1.22857142857143 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAAGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 294 165 0.998432612507203 1 0.999216306253601 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0516191829178112 0.0189558098780147 NA 0.963928809855688 NA 0.035287496397913 NA FALSE NA 0 0.006 . splice_region_variant&intron_variant LOW XDH HGNC 12805 ENST00000379416 24/35 1 NA CCT C 0.0001235 2:31364150 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 splice_region_variant 0.863718 0.28571 0.05474 0.061011 0.49804925543504 0.278149 1.55760351242192e-13 FALSE 0.000117804 ENSE00001037219_008 ENSE00001037219 008 2 31586988 31587157 - 36 87 47 G A 31587035 992 123 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATTTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364168 31364169 31364169 exon -12 0.873563218390805 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATTTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 286 2742 1 0.998555307541095 0.999277653770548 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0531865704106084 0.01751111741911 NA 0.963928809855688 NA 0.0353488439148592 NA FALSE NA 1 5.281 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 rs371771297 1 tolerated(0.7) benign(0.169) NA A:0 A:0.0001 AGA G 2.471e-05 2:31364169 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 2.471399 0.9913 0.97251 0.553676 0.99592616603995 0 1.55760351242192e-13 FALSE 2.0307e-05 ENSE00001037219_009 ENSE00001037219 009 2 31586988 31587157 - 36 87 47 C T 31587039 993 119 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAAGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364172 31364173 31364173 exon -16 0.827586206896552 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAAGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 152 680 0.986626734404162 0.991511569493046 0.989069151948604 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0398133048147709 0.010467379371061 NA 0.963928809855688 NA 0.0251403420929159 NA FALSE NA 0.872 1.427 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 24/36 1 NA CCT C 8.236e-06 2:31364173 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 synonymous_variant 1.565277 0.84728 0.67187 0.553676 0.621417839211676 0 1.55760351242192e-13 FALSE 4.06141e-06 ENSE00001037219_011 ENSE00001037219 011 2 31586988 31587157 - 36 87 47 G A 31587043 995 115 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACATCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364176 31364177 31364177 exon -20 0.781609195402299 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACATCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 597 641 0.997744830346219 0.999164450420392 0.998454640383305 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0509314007568269 0.0181202602984066 NA 0.963928809855688 NA 0.0345258305276168 NA FALSE NA 1 4.404 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 1 deleterious(0) possibly_damaging(0.529) NA GGT G 8.236e-06 2:31364177 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 5.367949 0.98114 0.96252 0.553676 0.99838190357912 0 1.55760351242192e-13 FALSE NA ENSE00001037219_012 ENSE00001037219 012 2 31586988 31587157 - 36 87 47 C G 31587053 996 105 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATCTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364186 31364187 31364187 exon -30 0.666666666666667 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATCTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 4535 341 0.978279349586832 1 0.989139674793416 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0314659199974404 0.0189558098780147 NA 0.963928809855688 NA 0.0252108649377276 NA FALSE NA 1 4.635 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:31364187 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 4.180169 0.99399 0.9847 0.553676 0.99539879309733 0 1.55760351242192e-13 FALSE 8.12269e-06 ENSE00001037219_013 ENSE00001037219 013 2 31586988 31587157 - 36 87 47 C T 31587053 997 105 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATATGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364186 31364187 31364187 exon -30 0.666666666666667 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATATGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 961 326 0.999041863535151 1 0.999520931767576 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0522284339457595 0.0189558098780147 NA 0.963928809855688 NA 0.0355921219118871 NA FALSE NA 1 4.635 NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037219 missense_variant 4.698774 0.99369 0.98035 0.553676 0.99742030152588 0 1.55760351242192e-13 FALSE 8.12269e-06 ENSE00001037219_014 ENSE00001037219 014 2 31586988 31587157 - 36 87 47 A G 31587054 998 104 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAACGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364187 31364188 31364188 exon -31 0.655172413793103 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAACGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 274 144 1 0.994249763833773 0.997124881916887 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0531865704106084 0.0132055737117878 NA 0.963928809855688 NA 0.0331960720611981 NA FALSE NA 1 0.936 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 24/36 1 NA CAT A 8.236e-06 2:31364188 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 synonymous_variant -0.52258 0.97325 0.82221 0.553676 0.43168752552724 0 1.55760351242192e-13 FALSE 4.06131e-06 ENSE00001037219_015 ENSE00001037219 015 2 31586988 31587157 - 36 87 47 T C 31587055 999 103 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAGTGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364188 31364189 31364189 exon -32 0.64367816091954 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAGTGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 2003 782 0.998338637686751 1 0.999169318843375 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0515252080973594 0.0189558098780147 NA 0.963928809855688 NA 0.035240508987687 NA FALSE NA 1 7.724 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 rs374758075 1 deleterious(0) probably_damaging(0.986) NA C:0 C:0.0001 ATT T 2.471e-05 2:31364189 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 5.538716 0.99488 0.99032 0.553676 0.998958799767174 0 1.55760351242192e-13 FALSE 2.03079e-05 ENSE00001037219_016 ENSE00001037219 016 2 31586988 31587157 - 36 87 47 G A 31587063 1000 95 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCATTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364196 31364197 31364197 exon -40 0.551724137931034 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCATTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 115 452 1 1 1 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0531865704106084 0.0189558098780147 NA 0.963928809855688 NA 0.0360711901443115 NA FALSE NA 1 1.738 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 24/36 rs368056609 1 A:0.0014 A:0 A:0 NA A:0 A:0 A:0.0072 AGT G 0.0005683 2:31364197 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 synonymous_variant 0.748166 0.98556 0.92734 0.553676 0.602487727236111 0 1.55760351242192e-13 FALSE 0.000491418 ENSE00001037219_017 ENSE00001037219 017 2 31586988 31587157 - 36 87 47 G T 31587066 1001 92 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGAACACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364199 31364200 31364200 exon -43 0.517241379310345 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGAACACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 984 2365 0.998145138869183 0.996846939363404 0.997496039116293 NA NA 0.946813429589392 0.981044190121985 NA NA 0.051331709279791 0.0158027492414183 NA 0.963928809855688 NA 0.0335672292606047 NA FALSE NA 0.009 -1.268 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 1 tolerated(1) benign(0.005) NA GGT A 8.236e-06 2:31364200 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant -0.975181 0.1543 0.02967 0.553676 0.604050496153128 0 1.55760351242192e-13 FALSE 4.06157e-06 ENSE00001037219_019 ENSE00001037219 019 2 31586988 31587157 - 36 87 47 C T 31587080 1003 78 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGACTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364213 31364214 31364214 exon 31 0.35632183908046 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGACTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 101 489 1 0.995691665455412 0.997845832727706 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0531865704106084 0.0146474753334263 NA 0.963928809855688 NA 0.0339170228720173 NA FALSE NA 1 4.605 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 1 deleterious(0) probably_damaging(0.938) NA GCC C 8.236e-06 2:31364214 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 6.929921 0.99093 0.94614 0.553676 0.999023125167343 0 1.55760351242192e-13 FALSE 4.06114e-06 ENSE00001037219_020 ENSE00001037219 020 2 31586988 31587157 - 36 87 47 G A 31587088 1004 70 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGATAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364221 31364222 31364222 exon 23 0.264367816091954 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGATAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 244 819 1 0.999018175007817 0.999509087503909 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0531865704106084 0.017973984885832 NA 0.963928809855688 NA 0.0355802776482202 NA FALSE NA 0 -0.395 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 CD972514 1 deleterious(0.05) benign(0.063) NA TGT A 8.236e-06 2:31364222 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 0.134875 0.25809 0.06833 0.553676 0.971117199690456 0 1.55760351242192e-13 FALSE 4.06108e-06 ENSE00001037219_021 ENSE00001037219 021 2 31586988 31587157 - 36 87 47 C T 31587091 1005 67 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGAGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364224 31364225 31364225 exon 20 0.229885057471264 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGAGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 394 341 0.993647221012828 1 0.996823610506414 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0468337914234368 0.0189558098780147 NA 0.963928809855688 NA 0.0328948006507258 NA FALSE NA 1 7.511 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 1 deleterious(0) probably_damaging(1) NA CCC C 1.647e-05 2:31364225 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 7.299761 0.99634 0.99128 0.553676 0.99756489199917 0 1.55760351242192e-13 FALSE 1.21827e-05 ENSE00001037219_022 ENSE00001037219 022 2 31586988 31587157 - 36 87 47 A G 31587093 1006 65 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACCGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364226 31364227 31364227 exon 18 0.206896551724138 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACCGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 1259 646 0.942932985715703 0.908180087732724 0.925556536724214 NA NA 0.946813429589392 0.981044190121985 NA NA -0.00388044387368824 -0.0728641023892612 NA 0.963928809855688 NA -0.0383722731314747 NA FALSE NA 0.358 0.027 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 24/36 1 NA CAG A 8.236e-06 2:31364227 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 synonymous_variant 0.331743 0.68447 0.44026 0.553676 0.593780286839132 0 1.55760351242192e-13 FALSE 8.12176e-06 ENSE00001037219_023 ENSE00001037219 023 2 31586988 31587157 - 36 87 47 A T 31587100 1007 58 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCAAGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364233 31364234 31364234 exon 11 0.126436781609195 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCAAGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 874 574 0.99857878561047 0.995775963409622 0.997177374510046 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0517653560210788 0.0147317732876371 NA 0.963928809855688 NA 0.0332485646543579 NA FALSE NA 1 5.863 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 rs548580818 1 tolerated(0.19) benign(0.022) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CAT A 1.647e-05 2:31364234 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 2.20966 0.98814 0.97154 0.553676 0.9681228393883 0 1.55760351242192e-13 FALSE 8.12189e-06 ENSE00001037219_024 ENSE00001037219 024 2 31586988 31587157 - 36 87 47 T A 31587101 1008 57 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCTTGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364234 31364235 31364235 exon 10 0.114942528735632 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCTTGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 888 196 0.9789311201554 0.995199594998033 0.987065357576716 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0321176905660083 0.0141554048760473 NA 0.963928809855688 NA 0.0231365477210278 NA FALSE NA 1 3.317 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 24/36 1 tolerated(0.1) benign(0.006) NA ATG T 8.236e-06 2:31364235 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 missense_variant 2.927928 0.98501 0.92588 0.553676 0.967211629204869 0 1.55760351242192e-13 FALSE 3.24878e-05 ENSE00001037219_025 ENSE00001037219 025 2 31586988 31587157 - 36 87 47 T G 31587112 1009 46 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCCGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364245 31364246 31364246 upstr_intron -2 -0.0212765957446809 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCCGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 539 152 0.0486290678258158 0 0.0243145339129079 NA NA 0.946813429589392 0.981044190121985 NA NA -0.898184361763576 -0.981044190121985 NA 0.963928809855688 NA -0.939614275942781 NA TRUE NA 1 7.724 . splice_acceptor_variant HIGH XDH HGNC 12805 ENST00000379416 23/35 1 NA HC CTG T 8.236e-06 2:31364246 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 splice_acceptor_variant 5.446818 0.99505 0.99188 0.061011 0.995550728739228 0.979209 1.55760351242192e-13 FALSE 0 ENSE00001037219_026 ENSE00001037219 026 2 31586988 31587157 - 36 87 47 T A 31587115 1010 43 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTTTCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364248 31364249 31364249 upstr_intron -5 -0.0851063829787234 GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTTTCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 813 1836 0.99213360831079 0.999411495695173 0.995772552002981 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0453201787213988 0.0183673055731872 NA 0.963928809855688 NA 0.031843742147293 NA FALSE NA 0 -0.961 . splice_region_variant&intron_variant LOW XDH HGNC 12805 ENST00000379416 23/35 1 NA ATA T 8.236e-06 2:31364249 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 splice_region_variant 0.54536 0.16834 0.08804 0.061011 0.634714377787673 0.284466 1.55760351242192e-13 FALSE 4.06108e-06 ENSE00001037219_027 ENSE00001037219 027 2 31586988 31587157 - 36 87 47 G A 31587130 1011 28 GGGAAACGGGACTTATGATAAATCCCTTTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364263 31364264 31364264 upstr_intron -20 -0.404255319148936 GGGAAACGGGACTTATGATAAATCCCTTTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 3052 950 0.990981471407528 0.999586539994346 0.995284005700937 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0441680418181364 0.0185423498723604 NA 0.963928809855688 NA 0.0313551958452484 NA FALSE NA 0.034 -0.481 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 23/35 1 NA AGA G 8.236e-06 2:31364264 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 intron_variant -0.057137 0.28836 0.0412 0.061011 0.5296805433354 0.0862078 1.55760351242192e-13 FALSE 1.21862e-05 ENSE00001037219_028 ENSE00001037219 028 2 31586988 31587157 - 36 87 47 A G 31587142 1012 16 GGGAAACGGGACTTACGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364275 31364276 31364276 upstr_intron -32 -0.659574468085106 GGGAAACGGGACTTACGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 834 1700 0.99815981148899 0.999296608921627 0.998728210205309 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0513463818995987 0.0182524187996417 NA 0.963928809855688 NA 0.0347994003496202 NA FALSE NA 0.03 0.456 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:31364276 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037219 intron_variant -0.117057 0.18354 0.0698 0.061011 0.307226700908775 0.046323 1.55760351242192e-13 FALSE 0.0372297 ENSE00001037219_029 ENSE00001037219 029 2 31586988 31587157 - 36 87 47 A C 31587142 1013 16 GGGAAACGGGACTTAGGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 31364275 31364276 31364276 upstr_intron -32 -0.659574468085106 GGGAAACGGGACTTAGGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC mutant NA NA NA NA NA 194 327 1 1 1 NA NA 0.946813429589392 0.981044190121985 NA NA 0.0531865704106084 0.0189558098780147 NA 0.963928809855688 NA 0.0360711901443115 NA FALSE NA 0.03 0.456 NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037219 intron_variant -0.320098 0.18523 0.081 0.061011 0.379012680703151 0.046323 1.55760351242192e-13 FALSE 0.0024874 ENSE00001037219_BRK ENSE00001037219 BRK 2 31586988 31587157 - 36 87 47 A,G; T,T NA NA NA GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCTTGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTCCGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC 31364121 31364291 NA NA NA NA NA NA GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCTTGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTCCGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC GGGAAACGGGACTTATGATAAATCCCTCTCCTTTCTCCTTTTATCAGGTTGGCTTCATGAAGACTGGGACAGTTGTGGCTCTTGAGGTGGACCACTTCAGCAATGTGGGGAACACCCAGGATCTCTCTCAGAGTGTGAGTAGGACCTGCAGCCGCCCCTGCACCCAGAGC control 142 62 0 0 0 59 3971 0 0.0279956656129288 0.0139978328064644 NA NA 0.946813429589392 0.981044190121985 NA NA -0.946813429589392 -0.953048524509057 NA 0.963928809855688 NA -0.949930977049224 NA TRUE NA NA NA NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037219 NA NA NA NA NA NA NA 1.55760351242192e-13 FALSE NA ENSE00001037245_000 ENSE00001037245 000 2 31569593 31569762 - 42 75 53 NA NA NA NA NA CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 NA NA NA NA NA NA CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG natural 200 153 0.85 0.82834227731886 0.83917113865943 1137 2367 0.766592454569255 0.783163319426129 0.774877886997692 0.85 0.82834227731886 0.766592454569255 0.783163319426129 0 0 0 0 0.83917113865943 0.774877886997692 0 0 0 FALSE FALSE NA NA NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037245 NA NA NA NA NA NA NA 1.55760351242192e-13 FALSE NA ENSE00001037245_001 ENSE00001037245 001 2 31569593 31569762 - 42 75 53 A G 31569608 925 155 CCCTCTCCTTTGCAAGCGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346741 31346742 31346742 downstr_intron 27 1.65853658536585 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGCTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 2097 83 0.8 0.8 0.8 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.0334075454307451 0.0168366805738712 0.83917113865943 0.774877886997692 NA 0.0251221130023082 NA FALSE NA 0.021 1.568 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 30/35 1 NA AAC A 8.236e-06 2:31346742 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.357365 0.24008 0.10866 0.06567 0.585244232768274 0.046323 1.55760351242192e-13 FALSE 4.06072e-06 ENSE00001037245_002 ENSE00001037245 002 2 31569593 31569762 - 42 75 53 C T 31569609 926 154 CCCTCTCCTTTGCAAATGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346742 31346743 31346743 downstr_intron 26 1.63414634146341 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACATTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 171 1029 0.78916726950275 0.8 0.794583634751375 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.0225748149334947 0.0168366805738711 0.83917113865943 0.774877886997692 NA 0.0197057477536829 NA FALSE NA 0.001 -0.101 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 30/35 1 NA ACG A 1.647e-05 2:31346743 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.30749 0.24335 0.02045 0.06567 0.946759606804892 0.046323 1.55760351242192e-13 FALSE 1.62427e-05 ENSE00001037245_003 ENSE00001037245 003 2 31569593 31569762 - 42 75 53 G A 31569610 927 153 CCCTCTCCTTTGCAAACATGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346743 31346744 31346744 downstr_intron 25 1.60975609756098 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCATGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 34 673 0.8 0.81443534206524 0.80721767103262 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.0334075454307451 0.0312720226391116 0.83917113865943 0.774877886997692 NA 0.0323397840349283 NA FALSE NA 0.003 1.609 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 30/35 1 NA CGT G 8.236e-06 2:31346744 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.463331 0.34411 0.07663 0.06567 0.653419585693498 0.644043 1.55760351242192e-13 FALSE 2.43649e-05 ENSE00001037245_004 ENSE00001037245 004 2 31569593 31569762 - 42 75 53 C T 31569624 928 139 CCCTCTCCTTTGCAAACGTGACTTGGATCAGTTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346757 31346758 31346758 downstr_intron 11 1.26829268292683 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAACTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 204 56 0.828067922329183 0.8 0.814033961164591 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.0614754677599277 0.0168366805738712 0.83917113865943 0.774877886997692 NA 0.0391560741668995 NA FALSE NA 0.001 -0.037 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 30/35 1 NA GCT C 8.236e-06 2:31346758 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.418952 0.24918 0.02118 0.06567 0.53464035314961 0.0969652 1.55760351242192e-13 FALSE NA ENSE00001037245_005 ENSE00001037245 005 2 31569593 31569762 - 42 75 53 T G 31569631 929 132 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACGTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346764 31346765 31346765 downstr_intron 4 1.09756097560976 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTACGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 338 441 0.00995921748650058 0.0242547368374528 0.0171069771619767 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA -0.756633237082754 -0.758908582588676 0.83917113865943 0.774877886997692 NA -0.757770909835715 NA TRUE NA 1 3.09 . splice_region_variant&intron_variant LOW XDH HGNC 12805 ENST00000379416 30/35 1 NA CTT T 8.236e-06 2:31346765 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 splice_region_variant 1.873972 0.98095 0.92131 0.06567 0.910807998391223 0.78451 1.55760351242192e-13 FALSE 4.06075e-06 ENSE00001037245_007 ENSE00001037245 007 2 31569593 31569762 - 42 75 53 T G 31569660 931 103 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGAGTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346793 31346794 31346794 exon -26 0.666666666666667 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGACTCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 221 553 0.82854325238331 0.80545702567812 0.817000139030715 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.0619507978140551 0.0222937062519916 0.83917113865943 0.774877886997692 NA 0.0421222520330233 NA FALSE NA 1 7.737 rs45547640 missense_variant MODERATE XDH HGNC 12805 ENST00000379416 30/36 rs45547640&CM086583 1 deleterious(0.02) possibly_damaging(0.794) G:0.0054 G:0 G:0 NA G:0.0258 G:0 G:0.001 ATT T 0.002166 2:31346794 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 missense_variant 6.409814 0.99434 0.99532 0.554377 0.996107233140488 0 1.55760351242192e-13 FALSE 0.00194526 ENSE00001037245_008 ENSE00001037245 008 2 31569593 31569762 - 42 75 53 T A 31569667 932 96 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTACTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346800 31346801 31346801 exon -33 0.573333333333333 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGTAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 292 153 0.0030999738229356 0.0333032457109179 0.0182016097669267 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA -0.763492480746319 -0.749860073715211 0.83917113865943 0.774877886997692 NA -0.756676277230765 NA TRUE NA 0.107 0.673 . stop_gained HIGH XDH HGNC 12805 ENST00000379416 30/36 1 NA HC TTC T 8.236e-06 2:31346801 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 stop_gained 12.779777 0.57018 0.41766 0.554377 0.995809809182203 0 1.55760351242192e-13 FALSE NA ENSE00001037245_012 ENSE00001037245 012 2 31569593 31569762 - 42 75 53 G A 31569705 936 58 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAACCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346838 31346839 31346839 exon 5 0.0666666666666667 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGTTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 151 195 0.0839946632449916 0.0405817865384337 0.0622882248917126 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA -0.682597791324263 -0.742581532887695 0.83917113865943 0.774877886997692 NA -0.712589662105979 NA TRUE NA 1 9.103 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 30/36 1 deleterious(0) probably_damaging(0.976) NA AGC G 8.236e-06 2:31346839 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 missense_variant 6.356612 0.99652 0.99784 0.554377 0.999060893958653 0 1.55760351242192e-13 FALSE 4.06118e-06 ENSE00001037245_015 ENSE00001037245 015 2 31569593 31569762 - 42 75 53 C G 31569722 939 41 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACAGCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346855 31346856 31346856 upstr_intron -13 -0.226415094339623 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGCTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 623 319 0.697792162954658 0.665495409560696 0.681643786257677 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA -0.0688002916145967 -0.117667909865433 0.83917113865943 0.774877886997692 NA -0.0932341007400146 NA FALSE NA 0.009 -0.668 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 29/35 1 NA ACC C 8.238e-06 2:31346856 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant -0.22844 0.18238 0.01086 0.06567 0.338389372220215 0.0862078 1.55760351242192e-13 FALSE 4.06171e-06 ENSE00001037245_016 ENSE00001037245 016 2 31569593 31569762 - 42 75 53 C A 31569724 940 39 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCACCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346857 31346858 31346858 upstr_intron -15 -0.264150943396226 CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGTGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 444 211 0.00067616052576173 0 0.000338080262880865 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA -0.765916294043493 -0.783163319426129 0.83917113865943 0.774877886997692 NA -0.774539806734811 NA TRUE NA 0.042 1.915 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:31346858 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.344687 0.55754 0.10574 0.06567 0.52235976360982 0.915931 1.55760351242192e-13 FALSE 8.12255e-06 ENSE00001037245_020 ENSE00001037245 020 2 31569593 31569762 - 42 75 53 C A 31569734 944 29 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCAAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346867 31346868 31346868 upstr_intron -25 -0.452830188679245 CTACAGAATGCAGAGGACTGATGTGTCTTGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 437 374 0.994668201189038 0.956578456896511 0.975623329042775 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.228075746619783 0.173415137470382 0.83917113865943 0.774877886997692 NA 0.200745442045083 NA FALSE NA 0 -1.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:31346868 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.214503 0.26821 0.0645 0.06567 0.520086498546675 0.1644 1.55760351242192e-13 FALSE 0.000203065 ENSE00001037245_021 ENSE00001037245 021 2 31569593 31569762 - 42 75 53 C G 31569734 945 29 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCGAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346867 31346868 31346868 upstr_intron -25 -0.452830188679245 CTACAGAATGCAGAGGACTGATGTGTCTCGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 444 95 0.81155154192178 0.83218218608049 0.821866864001135 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.0449590873525251 0.0490188666543612 0.83917113865943 0.774877886997692 NA 0.0469889770034431 NA FALSE NA 0 -1.025 NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037245 intron_variant 0.049959 0.28063 0.11295 0.06567 0.400420461364119 0.1644 1.55760351242192e-13 FALSE 4.06131e-06 ENSE00001037245_023 ENSE00001037245 023 2 31569593 31569762 - 42 75 53 C G 31569738 947 25 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGAGACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 31346871 31346872 31346872 upstr_intron -29 -0.528301886792453 CTACAGAATGCAGAGGACTGATGTCTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 489 443 0.791327851375139 0.743734514723991 0.767531183049565 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.0247353968058838 -0.0394288047021378 0.83917113865943 0.774877886997692 NA -0.00734670394812703 NA FALSE NA 0.008 1.844 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 29/35 1 NA ACA C 8.236e-06 2:31346872 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.402794 0.44802 0.27659 0.06567 0.390315440804873 0.772149 1.55760351242192e-13 FALSE NA ENSE00001037245_024 ENSE00001037245 024 2 31569593 31569762 - 42 75 53 T A 31569742 948 21 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACAACAGTCCTCTGCATTCTGTAG 31346726 31346896 31346875 31346876 31346876 upstr_intron -33 -0.60377358490566 CTACAGAATGCAGAGGACTGTTGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 403 312 0.004879311708648 0 0.002439655854324 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA -0.761713142860607 -0.783163319426129 0.83917113865943 0.774877886997692 NA -0.772438231143368 NA TRUE NA 0.212 1.318 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 29/35 1 NA ATC T 8.236e-06 2:31346876 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.563036 0.36839 0.18622 0.06567 0.501035917619632 0.1644 1.55760351242192e-13 FALSE 4.06246e-06 ENSE00001037245_025 ENSE00001037245 025 2 31569593 31569762 - 42 75 53 C T 31569747 949 16 CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTACCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCCTAAAGTAAACACCCCCCACACCCCAGACACATCAGTTCTCTGCATTCTGTAG 31346726 31346896 31346880 31346881 31346881 upstr_intron -38 -0.69811320754717 CTACAGAATGCAGAGAACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG mutant NA NA NA NA NA 233 74 0.881779160339508 0.8 0.840889580169754 0.85 0.82834227731886 0.766592454569255 0.783163319426129 NA NA 0.115186705770253 0.0168366805738712 0.83917113865943 0.774877886997692 NA 0.0660116931720621 NA FALSE NA 0 0.028 rs45511600 intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 29/35 rs45511600 1 T:0.0210 T:0.0741 T:0.0072 NA T:0 T:0.002 T:0 T:0.0611 T:0.0005 TCC C 0.006169 2:31346881 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001037245 intron_variant 0.462907 0.29428 0.05719 0.06567 0.545236688450506 0.1644 1.55760351242192e-13 FALSE 0.00519217 ENSE00001037245_BRK ENSE00001037245 BRK 2 31569593 31569762 - 42 75 53 A,G; T,T NA NA NA CCCTCTCCTTTGCAAACGTGACTTGGATCAGCTCAGACTTGGCCAGTCTTCCCAGGAGCCACTGGGATTCTTCTTCTTGTAGGGTTCCAGCCTTTTCAAGATGGTCTGACAAGCCGCAAAAAGTAAACACCCCCCACACCCCAGACACATCAGTCCTCTGCATTCTGTAG 31346726 31346896 NA NA NA NA NA NA CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTTTGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGCCAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG CTACAGAATGCAGAGGACTGATGTGTCTGGGGTGTGGGGGGTGTTTACTTTAGGCGGCTTGTCAGACCATCTTGAAAAGGCTGGAACCCTACAAGAAGAAGAATCCCAGTGGCTCCTGGGAAGACTGGGTAAGTCTGAGCTGATCCAAGTCACGTTTGCAAAGGAGAGGG control 20 62 0 0 0 441 34 0 0.0150831775949979 0.00754158879749894 0.85 0.82834227731886 0.766592454569255 0.783163319426129 -0.85 -0.82834227731886 -0.766592454569255 -0.768080141831131 0.83917113865943 0.774877886997692 -0.83917113865943 -0.767336298200193 0.0718348404592372 TRUE TRUE NA NA NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001037245 NA NA NA NA NA NA NA 1.55760351242192e-13 FALSE NA ENSE00001037370_000 ENSE00001037370 000 1 36897364 36897533 - 39 81 50 NA NA NA NA NA ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 NA NA NA NA NA NA ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC natural NA NA NA NA NA 2848 2984 0.914499925139868 0.86941191262476 0.891955918882314 NA NA 0.914499925139868 0.86941191262476 NA NA 0 0 NA 0.891955918882314 NA 0 NA FALSE NA NA NA NA NA NA OSCP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OSCP1 NA NA NA ENSG00000116885 ENSE00003605733 NA NA NA NA NA NA NA 0.000148146568416105 FALSE NA ENSE00001037370_001 ENSE00001037370 001 1 36897364 36897533 - 39 81 50 T G 36897376 1224 158 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACCCTCAGGAGCTGC 36431762 36431932 36431774 36431775 36431775 downstr_intron 27 1.71052631578947 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACCCTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 122 332 1 0.993683841365873 0.996841920682937 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0855000748601321 0.124271928741113 NA 0.891955918882314 NA 0.104886001800623 NA FALSE NA 0 -0.38 . intron_variant MODIFIER OSCP1 HGNC 29971 ENST00000315643 5/9 rs201192535 1 G:0.0010 G:0 G:0 NA G:0 G:0.004 G:0.001 G:0.0007 G:0.0031 GTG T,G 0.001853 1:36431775 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 intron_variant 0.08691 0.09442 0.00665 0.078448 0.428219613374824 0.046323 0.000148146568416105 FALSE 0.00202598 ENSE00001037370_003 ENSE00001037370 003 1 36897364 36897533 - 39 81 50 A C 36897393 1226 141 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAAGAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431791 36431792 36431792 downstr_intron 10 1.26315789473684 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAAGAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 672 373 0.945917388051617 0.978618478347911 0.962267933199764 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0314174629117495 0.109206565723151 NA 0.891955918882314 NA 0.0703120143174502 NA FALSE NA 0 -0.513 . intron_variant MODIFIER OSCP1 HGNC 29971 ENST00000315643 5/9 1 NA TAT A,C 8.236e-06 1:36431792 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 intron_variant 0.375952 0.21109 0.01835 0.164513 0.622119301319004 0.046323 0.000148146568416105 FALSE 4.07604e-06 ENSE00001037370_005 ENSE00001037370 005 1 36897364 36897533 - 39 81 50 C T 36897402 1228 132 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAATAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431800 36431801 36431801 downstr_intron 1 1.02631578947368 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAATAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant 70 14 0 0 0 108 17 0 0 0 NA NA 0.914499925139868 0.86941191262476 NA NA -0.914499925139868 -0.86941191262476 NA 0.891955918882314 NA -0.891955918882314 NA TRUE NA 1 7.196 rs143351034 splice_donor_variant HIGH OSCP1 HGNC 29971 ENST00000315643 5/9 rs143351034 1 NA T:0 T:0.0001 HC ACT C,T 8.236e-06 1:36431801 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 splice_donor_variant 5.326008 0.98955 0.98203 0.162113 0.994503959806892 0.907262 0.000148146568416105 FALSE 4.07286e-06 ENSE00001037370_006 ENSE00001037370 006 1 36897364 36897533 - 39 81 50 C T 36897404 1229 130 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCAAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431802 36431803 36431803 exon -2 0.987654320987654 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCAAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 271 183 1 1 1 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0855000748601321 0.13058808737524 NA 0.891955918882314 NA 0.108044081117686 NA FALSE NA 1 7.196 . missense_variant&splice_region_variant MODERATE OSCP1 HGNC 29971 ENST00000315643 5/10 1 probably_damaging(0.989) NA TCG C,T 2.471e-05 1:36431803 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 missense_variant 7.96997 0.99386 0.98576 0.632932 0.999564865463508 0 0.000148146568416105 FALSE 8.1469e-06 ENSE00001037370_007 ENSE00001037370 007 1 36897364 36897533 - 39 81 50 G A 36897409 1230 125 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCATATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431807 36431808 36431808 exon -7 0.925925925925926 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCATATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 122 58 1 1 1 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0855000748601321 0.13058808737524 NA 0.891955918882314 NA 0.108044081117686 NA FALSE NA 1 0.915 . synonymous_variant LOW OSCP1 HGNC 29971 ENST00000315643 5/10 1 NA TGT G,A 8.236e-06 1:36431808 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 synonymous_variant 0.81715 0.96532 0.81831 0.632932 0.61151513993376 0 0.000148146568416105 FALSE 4.06971e-06 ENSE00001037370_008 ENSE00001037370 008 1 36897364 36897533 - 39 81 50 G A 36897437 1231 97 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGATACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431835 36431836 36431836 exon -35 0.580246913580247 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGATACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 471 792 0.997883941154014 0.999033141421401 0.998458541287707 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0833840160141458 0.129621228796641 NA 0.891955918882314 NA 0.106502622405393 NA FALSE NA 1 6.069 . missense_variant MODERATE OSCP1 HGNC 29971 ENST00000315643 5/10 1 possibly_damaging(0.586) NA TGT G,A 8.236e-06 1:36431836 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 missense_variant 3.873211 0.98453 0.96963 0.632932 0.998731615790099 0 0.000148146568416105 FALSE 4.06868e-06 ENSE00001037370_009 ENSE00001037370 009 1 36897364 36897533 - 39 81 50 C T 36897443 1232 91 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCAGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431841 36431842 36431842 exon -41 0.506172839506173 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCAGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 168 34 0.983737597255978 0.814649732651063 0.899193664953521 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0692376721161103 -0.054762179973697 NA 0.891955918882314 NA 0.00723774607120664 NA FALSE NA 1 7.196 . missense_variant MODERATE OSCP1 HGNC 29971 ENST00000315643 5/10 rs373786872 1 probably_damaging(0.995) NA CCG C,T 8.236e-06 1:36431842 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 missense_variant 8.082357 0.99468 0.98742 0.632932 0.999591350444802 0 0.000148146568416105 FALSE NA ENSE00001037370_011 ENSE00001037370 011 1 36897364 36897533 - 39 81 50 C T 36897459 1234 75 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGAAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431857 36431858 36431858 exon 25 0.308641975308642 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGAAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 365 319 0.996624069385484 0.99976104245666 0.998192555921072 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0821241442456164 0.1303491298319 NA 0.891955918882314 NA 0.106236637038758 NA FALSE NA 1 7.196 rs150943653 missense_variant MODERATE OSCP1 HGNC 29971 ENST00000315643 5/10 rs150943653 1 benign(0.328) NA T:0.0002 T:0.0001 TCC C,T 4.118e-05 1:36431858 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 missense_variant 5.685329 0.99468 0.98742 0.632932 0.998744652029277 0 0.000148146568416105 FALSE 4.07169e-05 ENSE00001037370_012 ENSE00001037370 012 1 36897364 36897533 - 39 81 50 C T 36897460 1235 74 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGAGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431858 36431859 36431859 exon 24 0.296296296296296 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGAGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant 36 22 0.85 0.85 0.85 879 1473 0.909942087055927 0.981389062140798 0.945665574598363 NA NA 0.914499925139868 0.86941191262476 NA NA -0.00455783808394117 0.111977149516038 NA 0.891955918882314 NA 0.0537096557160486 NA FALSE NA 0 -2.476 rs144344454 synonymous_variant LOW OSCP1 HGNC 29971 ENST00000315643 5/10 rs144344454 1 NA T:0 T:0.0001 CCC C,T 8.236e-06 1:36431859 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 synonymous_variant 1.938096 0.59593 0.05756 0.632932 0.558404413209279 0 0.000148146568416105 FALSE 8.14392e-06 ENSE00001037370_013 ENSE00001037370 013 1 36897364 36897533 - 39 81 50 A C 36897472 1236 62 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGGCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431870 36431871 36431871 exon 12 0.148148148148148 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGGCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant 39 124 0.85 0.85 0.85 493 134 0.918111238360524 0.793736496936104 0.855923867648314 NA NA 0.914499925139868 0.86941191262476 NA NA 0.00361131322065578 -0.0756754156886559 NA 0.891955918882314 NA -0.0360320512340001 NA FALSE NA 0 -0.382 . synonymous_variant LOW OSCP1 HGNC 29971 ENST00000315643 5/10 1 NA GAC A,C 8.236e-06 1:36431871 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 synonymous_variant -0.295726 0.22047 0.10168 0.632932 0.586782947810269 0 0.000148146568416105 FALSE 4.07654e-06 ENSE00001037370_014 ENSE00001037370 014 1 36897364 36897533 - 39 81 50 C T 36897476 1237 58 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGATGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431874 36431875 36431875 exon 8 0.0987654320987654 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGATGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 995 255 0.885660646968049 0.991676974491094 0.938668810729572 NA NA 0.914499925139868 0.86941191262476 NA NA -0.028839278171819 0.122265061866334 NA 0.891955918882314 NA 0.0467128918472576 NA FALSE NA 0.13 2.333 . missense_variant MODERATE OSCP1 HGNC 29971 ENST00000315643 5/10 rs539778629 1 benign(0.197) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACC C,T 1.647e-05 1:36431875 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 missense_variant 2.917613 0.62133 0.28846 0.632932 0.993100622860533 0 0.000148146568416105 FALSE 2.04e-05 ENSE00001037370_015 ENSE00001037370 015 1 36897364 36897533 - 39 81 50 T C 36897481 1238 53 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATGTATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431879 36431880 36431880 exon 3 0.037037037037037 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATGTATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 14 325 1 0.976772352773821 0.98838617638691 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0855000748601321 0.107360440149061 NA 0.891955918882314 NA 0.0964302575045963 NA FALSE NA 0 -1.468 . missense_variant&splice_region_variant MODERATE OSCP1 HGNC 29971 ENST00000315643 5/10 1 benign(0.016) NA ATA T,C 8.236e-06 1:36431880 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 missense_variant -0.872609 0.16067 0.02514 0.632932 0.832636721318418 0 0.000148146568416105 FALSE 2.04102e-05 ENSE00001037370_016 ENSE00001037370 016 1 36897364 36897533 - 39 81 50 T C 36897483 1239 51 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGGTATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431881 36431882 36431882 exon 1 0.0123456790123457 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGGTATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 587 543 0.999226249251694 0.999929883245549 0.999578066248622 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0847263241118265 0.130517970620789 NA 0.891955918882314 NA 0.107622147366308 NA FALSE NA 0.085 0.233 . missense_variant&splice_region_variant MODERATE OSCP1 HGNC 29971 ENST00000315643 5/10 1 benign(0.001) NA ATC T,C 8.236e-06 1:36431882 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 missense_variant -1.759555 0.19306 0.06588 0.632932 0.348867064826244 0 0.000148146568416105 FALSE 8.1704e-06 ENSE00001037370_017 ENSE00001037370 017 1 36897364 36897533 - 39 81 50 A G 36897489 1240 45 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTCGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431887 36431888 36431888 upstr_intron -6 -0.1 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTCGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 142 441 0.999709826818509 0.991996153695044 0.995852990256777 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0852099016786413 0.122584241070284 NA 0.891955918882314 NA 0.103897071374463 NA FALSE NA 0 -0.313 . splice_region_variant&intron_variant LOW OSCP1 HGNC 29971 ENST00000315643 4/9 1 NA CAA A,G 8.236e-06 1:36431888 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 splice_region_variant 0.902951 0.27113 0.05342 0.078448 0.70171933320408 0.25488 0.000148146568416105 FALSE 1.22841e-05 ENSE00001037370_018 ENSE00001037370 018 1 36897364 36897533 - 39 81 50 G A 36897492 1241 42 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCTTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431890 36431891 36431891 upstr_intron -9 -0.16 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCTTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 694 23 0.99874802575083 1 0.999374012875415 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0842481006109622 0.13058808737524 NA 0.891955918882314 NA 0.107418093993101 NA FALSE NA 0.467 0.569 . intron_variant MODIFIER OSCP1 HGNC 29971 ENST00000315643 4/9 rs373344633 1 NA A:0.0002 A:0 AGG G,A 8.236e-06 1:36431891 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 intron_variant 2.005857 0.67823 0.69067 0.078448 0.789348636821521 0.24468 0.000148146568416105 FALSE 8.19356e-06 ENSE00001037370_019 ENSE00001037370 019 1 36897364 36897533 - 39 81 50 G C 36897493 1242 41 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGGCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431891 36431892 36431892 upstr_intron -10 -0.18 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGGCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant 66 150 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.914499925139868 0.86941191262476 NA NA NA NA NA 0.891955918882314 NA NA NA NA NA 0.311 0.32 . intron_variant MODIFIER OSCP1 HGNC 29971 ENST00000315643 4/9 1 NA GGC G,C 8.236e-06 1:36431892 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 intron_variant 1.456071 0.39202 0.60983 0.078448 0.70591141632347 0.252498 0.000148146568416105 FALSE 4.10068e-06 ENSE00001037370_020 ENSE00001037370 020 1 36897364 36897533 - 39 81 50 G A 36897497 1243 37 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGTTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431895 36431896 36431896 upstr_intron -14 -0.26 ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGTTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 37 54 0.946258289654634 1 0.973129144827317 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0317583645147658 0.13058808737524 NA 0.891955918882314 NA 0.0811732259450029 NA FALSE NA 0.04 0.157 . intron_variant MODIFIER OSCP1 HGNC 29971 ENST00000315643 4/9 1 NA AGC G,A 8.236e-06 1:36431896 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 intron_variant 1.675828 0.208 0.04783 0.078448 0.71521986028845 0.177964 0.000148146568416105 FALSE 4.11631e-06 ENSE00001037370_021 ENSE00001037370 021 1 36897364 36897533 - 39 81 50 G A 36897504 1244 30 ACTCATCCCTCTTGGAAAGTGAAGTGCTGTTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431902 36431903 36431903 upstr_intron -21 -0.4 ACTCATCCCTCTTGGAAAGTGAAGTGCTGTTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 237 834 0.991410933041716 0.999266535259042 0.995338734150379 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0769110079018482 0.129854622634281 NA 0.891955918882314 NA 0.103382815268065 NA FALSE NA 0 0.065 . intron_variant MODIFIER OSCP1 HGNC 29971 ENST00000315643 4/9 1 NA AGC G,A 8.236e-06 1:36431903 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 intron_variant 0.262156 0.21394 0.01854 0.078448 0.617342282636488 0.0787911 0.000148146568416105 FALSE 4.12807e-06 ENSE00001037370_022 ENSE00001037370 022 1 36897364 36897533 - 39 81 50 A G 36897509 1245 25 ACTCATCCCTCTTGGAAAGTGAAGCGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC 36431762 36431932 36431907 36431908 36431908 upstr_intron -26 -0.5 ACTCATCCCTCTTGGAAAGTGAAGCGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC ACTCATCCCTCTTGGAAAGTGAAGTGCTGCTTTCTGCTTGCCTTTGGCAGATATATGGTGGTCTCTCTGCAGGGGAGTTCCAGCTGATCCGGCAGACACTCCTCATCTTCTTCCAAGACCTGCACATCCGAGTAAGTCAATAGGCAGCCCTGGGAACACTCAGGAGCTGC mutant NA NA NA NA NA 145 826 0.971320544958343 0.992219948507268 0.981770246732806 NA NA 0.914499925139868 0.86941191262476 NA NA 0.0568206198184755 0.122808035882508 NA 0.891955918882314 NA 0.0898143278504919 NA FALSE NA 0 -0.656 . intron_variant MODIFIER OSCP1 HGNC 29971 ENST00000315643 4/9 1 NA CAC A,G 8.237e-06 1:36431908 OSCP1 HGNC Symbol protein_coding 34624 ENSG00000116885 ENSE00003605733 intron_variant -0.256871 0.14496 0.02697 0.078448 0.163505283604364 0.0455939 0.000148146568416105 FALSE 1.24332e-05 ENSE00001038040_000 ENSE00001038040 000 X 119425071 119425240 - 35 90 45 NA NA NA NA NA AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 NA NA NA NA NA NA AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG natural NA NA NA NA NA 1027 2744 0.978535843191377 0.991921422186853 0.985228632689115 NA NA 0.978535843191377 0.991921422186853 NA NA 0 0 NA 0.985228632689115 NA 0 NA FALSE NA NA NA NA NA NA TMEM255A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM255A NA NA NA ENSG00000125355 ENSE00001038040 NA NA NA NA NA NA NA 0.469576565727473 FALSE NA ENSE00001038040_003 ENSE00001038040 003 X 119425071 119425240 - 35 90 45 C T 119425129 994 112 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACAGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291273 120291274 120291274 exon -24 0.744444444444444 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACAGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 38 69 0.983781016256605 0.80365153165703 0.893716273956817 NA NA 0.978535843191377 0.991921422186853 NA NA 0.00524517306522831 -0.188269890529823 NA 0.985228632689115 NA -0.0915123587322976 NA FALSE NA 1 7.136 . missense_variant MODERATE TMEM255A HGNC 26086 ENST00000371369 4/9 1 deleterious(0) probably_damaging(1) NA CCG C,T 8.239e-06 X:120291274 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 missense_variant 7.452733 0.96855 0.83839 0 0.999394855604271 0 0.469576565727473 FALSE NA ENSE00001038040_005 ENSE00001038040 005 X 119425071 119425240 - 35 90 45 T C 119425131 996 110 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGGCGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291275 120291276 120291276 exon -26 0.722222222222222 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGGCGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 405 73 0.988472927414024 1 0.994236463707012 NA NA 0.978535843191377 0.991921422186853 NA NA 0.00993708422264716 0.0080785778131468 NA 0.985228632689115 NA 0.00900783101789698 NA FALSE NA 1 5.642 . missense_variant MODERATE TMEM255A HGNC 26086 ENST00000371369 4/9 1 deleterious(0.01) probably_damaging(0.995) NA GTC T,C 1.648e-05 X:120291276 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 missense_variant 5.955415 0.96158 0.69955 0 0.998706249491243 0 0.469576565727473 FALSE 5.75556e-06 ENSE00001038040_006 ENSE00001038040 006 X 119425071 119425240 - 35 90 45 T C 119425138 997 103 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCGTAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291282 120291283 120291283 exon -33 0.644444444444444 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCGTAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 71 53 0.999418928706631 1 0.999709464353315 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0208830855152536 0.0080785778131468 NA 0.985228632689115 NA 0.0144808316642002 NA FALSE NA 1 5.642 rs139782947 missense_variant MODERATE TMEM255A HGNC 26086 ENST00000371369 4/9 1 tolerated(0.19) probably_damaging(0.949) NA ATG T,C 8.238e-06 X:120291283 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 missense_variant 3.827037 0.946 0.64528 0 0.998546412132623 0 0.469576565727473 FALSE 5.74855e-06 ENSE00001038040_007 ENSE00001038040 007 X 119425071 119425240 - 35 90 45 C T 119425154 998 87 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCAGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291298 120291299 120291299 exon 42 0.466666666666667 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCAGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 20 124 1 1 1 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0214641568086231 0.0080785778131468 NA 0.985228632689115 NA 0.014771367310885 NA FALSE NA 0.054 -0.517 . synonymous_variant LOW TMEM255A HGNC 26086 ENST00000371369 4/9 1 NA CCG C,T 4.943e-05 X:120291299 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 synonymous_variant 2.622179 0.77533 0.04188 0 0.843151304689695 0 0.469576565727473 FALSE 2.87621e-05 ENSE00001038040_008 ENSE00001038040 008 X 119425071 119425240 - 35 90 45 A G 119425158 999 83 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGACTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291302 120291303 120291303 exon 38 0.422222222222222 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGACTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 264 75 1 1 1 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0214641568086231 0.0080785778131468 NA 0.985228632689115 NA 0.014771367310885 NA FALSE NA 1 6.75 . missense_variant MODERATE TMEM255A HGNC 26086 ENST00000371369 4/9 1 deleterious(0.04) possibly_damaging(0.652) NA AAT A,G 1.648e-05 X:120291303 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 missense_variant 5.622287 0.94621 0.73247 0 0.998242816118964 0 0.469576565727473 FALSE 5.75679e-06 ENSE00001038040_009 ENSE00001038040 009 X 119425071 119425240 - 35 90 45 T C 119425171 1000 70 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCGGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291315 120291316 120291316 exon 25 0.277777777777778 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCGGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 376 54 1 0.956645865862738 0.978322932931369 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0214641568086231 -0.0352755563241156 NA 0.985228632689115 NA -0.00690569975774624 NA FALSE NA 1 7.337 . missense_variant MODERATE TMEM255A HGNC 26086 ENST00000371369 4/9 1 deleterious(0) probably_damaging(0.979) NA CTG T,C 8.241e-06 X:120291316 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 missense_variant 5.655771 0.96158 0.82673 0 0.998102134774367 0 0.469576565727473 FALSE NA ENSE00001038040_010 ENSE00001038040 010 X 119425071 119425240 - 35 90 45 C T 119425180 1001 61 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCATGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291324 120291325 120291325 exon 16 0.177777777777778 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCATGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 556 129 0.99972427703781 1 0.999862138518905 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0211884338464329 0.0080785778131468 NA 0.985228632689115 NA 0.0146335058297898 NA FALSE NA 1 7.136 . missense_variant MODERATE TMEM255A HGNC 26086 ENST00000371369 4/9 1 deleterious(0) probably_damaging(0.998) NA ACG C,T 4.946e-05 X:120291325 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 missense_variant 7.06023 0.9541 0.79772 0 0.998881545580625 0 0.469576565727473 FALSE 4.10449e-05 ENSE00001038040_011 ENSE00001038040 011 X 119425071 119425240 - 35 90 45 G A 119425181 1002 60 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATTGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291325 120291326 120291326 exon 15 0.166666666666667 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATTGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 66 62 0.988893762960744 1 0.994446881480372 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0103579197693676 0.0080785778131468 NA 0.985228632689115 NA 0.00921824879125721 NA FALSE NA 0.996 0.501 rs143048894 synonymous_variant LOW TMEM255A HGNC 26086 ENST00000371369 4/9 1 NA CGA G,A 0.0002308 X:120291326 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 synonymous_variant 1.8501 0.89526 0.42313 0 0.848810715483041 0 0.469576565727473 FALSE 0.000246324 ENSE00001038040_012 ENSE00001038040 012 X 119425071 119425240 - 35 90 45 T C 119425183 1003 58 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTGTCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291327 120291328 120291328 exon 13 0.144444444444444 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTGTCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 105 818 1 0.999806611193792 0.999903305596896 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0214641568086231 0.00788518900693835 NA 0.985228632689115 NA 0.0146746729077807 NA FALSE NA 1 7.337 . missense_variant MODERATE TMEM255A HGNC 26086 ENST00000371369 4/9 1 deleterious(0.02) probably_damaging(0.949) NA ATA T,C 7.42e-05 X:120291328 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 missense_variant 5.205688 0.96158 0.82673 0 0.998707826352242 0 0.469576565727473 FALSE 6.45445e-05 ENSE00001038040_014 ENSE00001038040 014 X 119425071 119425240 - 35 90 45 A G 119425208 1005 33 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTACTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291352 120291353 120291353 upstr_intron -13 -0.266666666666667 AGTGCGAAAGGCTAACAGACGCTTTTGTTTTACTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 19 40 1 1 1 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0214641568086231 0.0080785778131468 NA 0.985228632689115 NA 0.014771367310885 NA FALSE NA 0.012 1.572 . intron_variant MODIFIER TMEM255A HGNC 26086 ENST00000371369 3/8 1 NA AAT A,G 5.795e-05 X:120291353 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 intron_variant -0.110175 0.23836 0.01407 0 0.439880770153746 0.091309 0.469576565727473 FALSE 3.14163e-05 ENSE00001038040_015 ENSE00001038040 015 X 119425071 119425240 - 35 90 45 A G 119425216 1006 25 AGTGCGAAAGGCTAACAGACGCTTCTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291360 120291361 120291361 upstr_intron -21 -0.444444444444444 AGTGCGAAAGGCTAACAGACGCTTCTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 798 1342 1 0.986123846994364 0.993061923497182 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0214641568086231 -0.00579757519248891 NA 0.985228632689115 NA 0.00783329080806711 NA FALSE NA 0.035 0.637 . intron_variant MODIFIER TMEM255A HGNC 26086 ENST00000371369 3/8 1 NA AAA A,G 8.31e-06 X:120291361 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 intron_variant 0.381275 0.26894 0.11194 0 0.550665551531877 0.052292 0.469576565727473 FALSE NA ENSE00001038040_016 ENSE00001038040 016 X 119425071 119425240 - 35 90 45 G A 119425221 1007 20 AGTGCGAAAGGCTAACAGATGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291365 120291366 120291366 upstr_intron -26 -0.555555555555556 AGTGCGAAAGGCTAACAGATGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 183 226 0.971393461595422 0.773780438881881 0.872586950238651 NA NA 0.978535843191377 0.991921422186853 NA NA -0.00714238159595471 -0.218140983304972 NA 0.985228632689115 NA -0.112641682450464 NA FALSE NA 0 -0.441 . intron_variant MODIFIER TMEM255A HGNC 26086 ENST00000371369 3/8 1 NA CGT G,A 0.0006006 X:120291366 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 intron_variant 0.074768 0.24263 0.00956 0 0.672047127736317 0.052292 0.469576565727473 FALSE 0.000242196 ENSE00001038040_017 ENSE00001038040 017 X 119425071 119425240 - 35 90 45 T C 119425222 1008 19 AGTGCGAAAGGCTAACAGGCGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG 120291215 120291385 120291366 120291367 120291367 upstr_intron -27 -0.577777777777778 AGTGCGAAAGGCTAACAGGCGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG AGTGCGAAAGGCTAACAGACGCTTTTGTTTTATTCCCCCCTACAGCTGGTGGCTTCTATCGTGTTTATCAGCTTTGGTGTGATTGCGGCTTTTTGTTGTGCCATAGTTGACGGGGTCTTTGCTGCCAGACACATTGTGAGTATTTTTTCGTCCTGAGTTAAAGTAAATAG mutant NA NA NA NA NA 90 916 1 0.994052546573901 0.997026273286951 NA NA 0.978535843191377 0.991921422186853 NA NA 0.0214641568086231 0.00213112438704821 NA 0.985228632689115 NA 0.0117976405978357 NA FALSE NA 0.711 0.344 . intron_variant MODIFIER TMEM255A HGNC 26086 ENST00000371369 3/8 1 NA GTC T,C 8.355e-06 X:120291367 TMEM255A HGNC Symbol protein_coding 52906 ENSG00000125355 ENSE00001038040 intron_variant -0.013785 0.21183 0.06704 0 0.421576035247823 0.052292 0.469576565727473 FALSE NA ENSE00001040098_000 ENSE00001040098 000 8 24255137 24255306 + 59 63 48 NA NA NA NA NA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA 24397623 24397793 NA NA NA NA NA NA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA natural NA NA NA NA NA 597 1890 0.877972678751884 0.996232144861608 0.937102411806746 NA NA 0.877972678751884 0.996232144861608 NA NA 0 0 NA 0.937102411806746 NA 0 NA FALSE NA NA NA NA NA NA ADAMDEC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMDEC1 NA NA NA ENSG00000134028 ENSE00003689747 NA NA NA NA NA NA NA 1.76177869055281e-09 FALSE NA ENSE00001040098_BRK ENSE00001040098 BRK 8 24255137 24255306 + 59 63 48 A,G; T,T NA NA NA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAATTAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTCCGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA 24397623 24397793 NA NA NA NA NA NA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAATTAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTCCGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA control NA NA NA NA NA 255 649 0 0 0 NA NA 0.877972678751884 0.996232144861608 NA NA -0.877972678751884 -0.996232144861608 NA 0.937102411806746 NA -0.937102411806746 NA TRUE NA NA NA NA NA NA ADAMDEC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMDEC1 NA NA NA ENSG00000134028 ENSE00003689747 NA NA NA NA NA NA NA 1.76177869055281e-09 FALSE NA ENSE00001040562_000 ENSE00001040562 000 7 98540516 98540685 + 56 69 45 NA NA NA NA NA AGCATGGCGGCTGGTGCCCTTCCCAGAAACAAACAAGTCACTCACGTTTCCGTCGCTCCTCTGGCCCCCTTTGTGGGTGATCACCACCACTTCCATCCACTTGCGCAGATGTTGCTGTTGGAAAAACACATCCTGAGACACAACTTCACAGTAGGTGCATTCCACTGGTG 98942892 98943062 NA NA NA NA NA NA CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT natural 79 87 0.991736469540237 0.986994530304317 0.989365499922277 878 2832 0.807722769316518 0.982457085329735 0.895089927323126 0.991736469540237 0.986994530304317 0.807722769316518 0.982457085329735 0 0 0 0 0.989365499922277 0.895089927323126 0 0 0 FALSE FALSE NA NA NA NA NA TRRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRRAP NA NA NA ENSG00000196367 ENSE00002520529 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001040562_007 ENSE00001040562 007 7 98540516 98540685 + 56 69 45 G C 98540619 2012 104 AGCATGGCGGCTGGTGCCCTTCCCAGAAACAAACAAGTCACTCACGTTTCCGTCGCTCCTCTGGCCGCCTTTGTGGGTGATCACCACCACTTCCATCCACTTGCGCAGATGTTGCTGTTGGAAAAACACATCCTGAGACACAACTTCACAGTAGGTGCATTCCACTGGTG 98942892 98943062 98942995 98942996 98942996 exon -22 0.695652173913043 CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGCGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT mutant NA NA NA NA NA 21 148 1 0.996853383349427 0.998426691674714 0.991736469540237 0.986994530304317 0.807722769316518 0.982457085329735 NA NA 0.192277230683482 0.0143962980196922 0.989365499922277 0.895089927323126 NA 0.103336764351587 NA FALSE NA 1 2.21 . synonymous_variant LOW TRRAP HGNC 12347 ENST00000355540 31/71 rs563712589 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GGG G,C 5.765e-05 7:98942996 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002520529 synonymous_variant 0.874655 0.97727 0.92597 0.706548 0.673068790311693 0 1 TRUE 7.31166e-05 ENSE00001040562_008 ENSE00001040562 008 7 98540516 98540685 + 56 69 45 G T 98540621 2013 106 AGCATGGCGGCTGGTGCCCTTCCCAGAAACAAACAAGTCACTCACGTTTCCGTCGCTCCTCTGGACCCCTTTGTGGGTGATCACCACCACTTCCATCCACTTGCGCAGATGTTGCTGTTGGAAAAACACATCCTGAGACACAACTTCACAGTAGGTGCATTCCACTGGTG 98942892 98943062 98942997 98942998 98942998 exon -20 0.72463768115942 CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGTCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT mutant NA NA NA NA NA 129 391 1 1 1 0.991736469540237 0.986994530304317 0.807722769316518 0.982457085329735 NA NA 0.192277230683482 0.0175429146702649 0.989365499922277 0.895089927323126 NA 0.104910072676874 NA FALSE NA 1 9.477 . missense_variant MODERATE TRRAP HGNC 12347 ENST00000355540 31/71 1 possibly_damaging(0.58) NA GGC G,T 8.236e-06 7:98942998 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002520529 missense_variant 5.447529 0.99468 0.99539 0.706548 0.996535404855504 0 1 TRUE 4.06243e-06 ENSE00001040562_009 ENSE00001040562 009 7 98540516 98540685 + 56 69 45 C T 98540622 2014 107 AGCATGGCGGCTGGTGCCCTTCCCAGAAACAAACAAGTCACTCACGTTTCCGTCGCTCCTCTGACCCCCTTTGTGGGTGATCACCACCACTTCCATCCACTTGCGCAGATGTTGCTGTTGGAAAAACACATCCTGAGACACAACTTCACAGTAGGTGCATTCCACTGGTG 98942892 98943062 98942998 98942999 98942999 exon -19 0.739130434782609 CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGTCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT mutant NA NA NA NA NA 13 15 0.987996612181049 0.994758855238912 0.99137773370998 0.991736469540237 0.986994530304317 0.807722769316518 0.982457085329735 NA NA 0.180273842864531 0.0123017699091771 0.989365499922277 0.895089927323126 NA 0.0962878063868539 NA FALSE NA 1 2.806 . synonymous_variant LOW TRRAP HGNC 12347 ENST00000355540 31/71 1 NA GCC C,T 8.236e-06 7:98942999 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002520529 synonymous_variant 1.992688 0.98515 0.94062 0.706548 0.669321509252733 0 1 TRUE 1.21878e-05 ENSE00001040562_011 ENSE00001040562 011 7 98540516 98540685 + 56 69 45 G A 98540635 2016 120 AGCATGGCGGCTGGTGCCCTTCCCAGAAACAAACAAGTCACTCACGTTTCTGTCGCTCCTCTGGCCCCCTTTGTGGGTGATCACCACCACTTCCATCCACTTGCGCAGATGTTGCTGTTGGAAAAACACATCCTGAGACACAACTTCACAGTAGGTGCATTCCACTGGTG 98942892 98943062 98943011 98943012 98943012 exon -6 0.927536231884058 CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACAGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT mutant NA NA NA NA NA 213 583 1 0.999728630599824 0.999864315299912 0.991736469540237 0.986994530304317 0.807722769316518 0.982457085329735 NA NA 0.192277230683482 0.0172715452700891 0.989365499922277 0.895089927323126 NA 0.104774387976786 NA FALSE NA 1 9.477 . missense_variant MODERATE TRRAP HGNC 12347 ENST00000355540 31/71 1 possibly_damaging(0.869) NA CGG G,A 1.647e-05 7:98943012 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002520529 missense_variant 4.033587 0.99454 0.99465 0.706548 0.999461606835537 0 1 TRUE 8.13279e-06 ENSE00001040562_012 ENSE00001040562 012 7 98540516 98540685 + 56 69 45 A G 98540638 2017 123 AGCATGGCGGCTGGTGCCCTTCCCAGAAACAAACAAGTCACTCACGTCTCCGTCGCTCCTCTGGCCCCCTTTGTGGGTGATCACCACCACTTCCATCCACTTGCGCAGATGTTGCTGTTGGAAAAACACATCCTGAGACACAACTTCACAGTAGGTGCATTCCACTGGTG 98942892 98943062 98943014 98943015 98943015 exon -3 0.971014492753623 CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAGACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT mutant NA NA NA NA NA 18 430 1 0.999378054699667 0.999689027349833 0.991736469540237 0.986994530304317 0.807722769316518 0.982457085329735 NA NA 0.192277230683482 0.0169209693699316 0.989365499922277 0.895089927323126 NA 0.104599100026707 NA FALSE NA 1 8.963 . missense_variant&splice_region_variant MODERATE TRRAP HGNC 12347 ENST00000355540 31/71 1 benign(0.085) NA AAA A,G 8.236e-06 7:98943015 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002520529 missense_variant 3.16448 0.9927 0.99392 0.706548 0.988995376885037 0 1 TRUE 4.06716e-06 ENSE00001040562_015 ENSE00001040562 015 7 98540516 98540685 + 56 69 45 T C 98540651 2020 136 AGCATGGCGGCTGGTGCCCTTCCCAGAAACAAACGAGTCACTCACGTTTCCGTCGCTCCTCTGGCCCCCTTTGTGGGTGATCACCACCACTTCCATCCACTTGCGCAGATGTTGCTGTTGGAAAAACACATCCTGAGACACAACTTCACAGTAGGTGCATTCCACTGGTG 98942892 98943062 98943027 98943028 98943028 downstr_intron 11 1.25 CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTCGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT mutant NA NA NA NA NA 140 44 1 1 1 0.991736469540237 0.986994530304317 0.807722769316518 0.982457085329735 NA NA 0.192277230683482 0.0175429146702649 0.989365499922277 0.895089927323126 NA 0.104910072676874 NA FALSE NA 0.018 -0.271 . intron_variant MODIFIER TRRAP HGNC 12347 ENST00000355540 31/70 1 NA TTG T,C 8.237e-06 7:98943028 TRRAP HGNC Symbol protein_coding 172898 ENSG00000196367 ENSE00002520529 intron_variant 1.89951 0.15553 0.13317 0.099367 0.655382722484557 0.264476 1 TRUE 4.07644e-06 ENSE00001040562_BRK ENSE00001040562 BRK 7 98540516 98540685 + 56 69 45 A,G; T,T NA NA NA AGCATGGCGGCTGGTGCCCTTCCCAGAAACAAACAAGTCACTCGGGTTTCCGTCGCTCCTCTGGCCCCCTTTGTGGGTGATCACCACCACTTCCATCCACTTGCGCAGATGTTGAAGTTGGAAAAACACATCCTGAGACACAACTTCACAGTAGGTGCATTCCACTGGTG 98942892 98943062 NA NA NA NA NA NA CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACTTCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACCCGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT CACCAGTGGAATGCACCTACTGTGAAGTTGTGTCTCAGGATGTGTTTTTCCAACAGCAACATCTGCGCAAGTGGATGGAAGTGGTGGTGATCACCCACAAAGGGGGCCAGAGGAGCGACGGAAACGTGAGTGACTTGTTTGTTTCTGGGAAGGGCACCAGCCGCCATGCT control 23 11 0 0 0 NA NA NA NA NA 0.991736469540237 0.986994530304317 0.807722769316518 0.982457085329735 -0.991736469540237 -0.986994530304317 NA NA 0.989365499922277 0.895089927323126 -0.989365499922277 NA NA NA TRUE NA NA NA NA NA TRRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRRAP NA NA NA ENSG00000196367 ENSE00002520529 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001042311_000 ENSE00001042311 000 20 44437699 44437868 + 54 72 44 NA NA NA NA NA GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 NA NA NA NA NA NA ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC natural NA NA NA NA NA 2548 2196 0.957042411866505 0.987558798966303 0.972300605416405 NA NA 0.957042411866505 0.987558798966303 NA NA 0 0 NA 0.972300605416405 NA 0 NA FALSE NA NA NA NA NA NA UBE2C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNTTIP1 NA NA NA ENSG00000101457 ENSE00001042311 NA NA NA NA NA NA NA 0.431436687799906 FALSE NA ENSE00001042311_001 ENSE00001042311 001 20 44437699 44437868 + 54 72 44 C T 44437709 1475 11 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGACTTTTCTCAT 45809059 45809229 45809069 45809070 45809070 upstr_intron -44 -0.796296296296296 ATGAGAAAAGTCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 483 158 1 1 1 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0429575881334946 0.0124412010336965 NA 0.972300605416405 NA 0.0276993945835955 NA FALSE NA 0 -0.527 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA GCC C,T 8.236e-06 20:45809070 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 intron_variant 0.325953 0.15355 0.0393 0.156188 0.582277569014936 0.0617519 0.431436687799906 FALSE 4.08975e-06 ENSE00001042311_002 ENSE00001042311 002 20 44437699 44437868 + 54 72 44 C T 44437711 1476 13 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGAGGCTTTTCTCAT 45809059 45809229 45809071 45809072 45809072 upstr_intron -42 -0.759259259259259 ATGAGAAAAGCCTCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 21 159 0.998023669907359 0.986217016949737 0.992120343428548 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0409812580408541 -0.00134178201656676 NA 0.972300605416405 NA 0.0198197380121437 NA FALSE NA 0.003 0.664 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA CCC C,T 2.471e-05 20:45809072 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 intron_variant 0.471585 0.1864 0.0884 0.156188 0.557238879013957 0.0617519 0.431436687799906 FALSE 1.22413e-05 ENSE00001042311_003 ENSE00001042311 003 20 44437699 44437868 + 54 72 44 G A 44437719 1477 21 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTTGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809079 45809080 45809080 upstr_intron -34 -0.611111111111111 ATGAGAAAAGCCCCTTACCCAAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 100 35 0.981080670980125 1 0.990540335490062 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0240382591136195 0.0124412010336965 NA 0.972300605416405 NA 0.018239730073658 NA FALSE NA 0 -1.314 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 rs376099800 1 NA A:0 A:0.0001 CGA G,A 8.236e-06 20:45809080 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 intron_variant 0.169768 0.14235 0.02253 0.295142 0.504945016596068 0.0617519 0.431436687799906 FALSE 1.2207e-05 ENSE00001042311_004 ENSE00001042311 004 20 44437699 44437868 + 54 72 44 G A 44437721 1478 23 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCTTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809081 45809082 45809082 upstr_intron -32 -0.574074074074074 ATGAGAAAAGCCCCTTACCCGAAGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 188 211 0.999183891937391 1 0.999591945968695 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0421414800708857 0.0124412010336965 NA 0.972300605416405 NA 0.0272913405522911 NA FALSE NA 0.001 0.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:45809082 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 intron_variant 0.310322 0.7441 0.12311 0.295142 0.483529121888687 0.108599 0.431436687799906 FALSE 8.13292e-06 ENSE00001042311_007 ENSE00001042311 007 20 44437699 44437868 + 54 72 44 G A 44437722 1481 24 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGTCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809082 45809083 45809083 upstr_intron -31 -0.555555555555556 ATGAGAAAAGCCCCTTACCCGAGACTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 539 279 0.999157094091081 1 0.99957854704554 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0421146822245753 0.0124412010336965 NA 0.972300605416405 NA 0.0272779416291359 NA FALSE NA 0.001 -0.369 NA NA NA UBE2C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:45809083 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 intron_variant 0.41903 0.69976 0.09921 0.295142 0.523805482741891 0.108599 0.431436687799906 FALSE 4.0663e-06 ENSE00001042311_008 ENSE00001042311 008 20 44437699 44437868 + 54 72 44 T A 44437739 1482 41 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGATGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809099 45809100 45809100 upstr_intron -14 -0.240740740740741 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACATCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 16 579 0.831430171085855 0.907854626904976 0.869642398995415 NA NA 0.957042411866505 0.987558798966303 NA NA -0.125612240780651 -0.0797041720613276 NA 0.972300605416405 NA -0.102658206420989 NA FALSE NA 0.005 1.43 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA CTT T,A 8.236e-06 20:45809100 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 intron_variant 1.266167 0.24156 0.33918 0.295142 0.842953392270843 0.232319 0.431436687799906 FALSE 4.06187e-06 ENSE00001042311_009 ENSE00001042311 009 20 44437699 44437868 + 54 72 44 T C 44437748 1483 50 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTGAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809108 45809109 45809109 upstr_intron -5 -0.0740740740740741 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTCACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 1928 427 0.982955525699727 0.990861003125924 0.986908264412825 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0259131138332211 0.00330220415962057 NA 0.972300605416405 NA 0.0146076589964209 NA FALSE NA 0.999 1.412 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA TTA T,C 8.236e-06 20:45809109 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 splice_region_variant 1.142743 0.93781 0.5639 0.295142 0.812983633814369 0.45749 0.431436687799906 FALSE 4.06147e-06 ENSE00001042311_011 ENSE00001042311 011 20 44437699 44437868 + 54 72 44 G T 44437770 1485 72 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCATGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809130 45809131 45809131 exon 18 0.25 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCATGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 233 440 0.974306372972725 0.976017625925554 0.975161999449139 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0172639611062193 -0.0115411730407498 NA 0.972300605416405 NA 0.00286139403273478 NA FALSE NA 1 2.691 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA AGG G,T 8.236e-06 20:45809131 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 missense_variant 5.63886 0.97497 0.95832 0.732398 0.997564225921486 0 0.431436687799906 FALSE 4.06095e-06 ENSE00001042311_012 ENSE00001042311 012 20 44437699 44437868 + 54 72 44 T C 44437788 1486 90 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCGGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809148 45809149 45809149 exon 36 0.5 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCCGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 248 674 0.919323391232325 0.997650846950869 0.958487119091597 NA NA 0.957042411866505 0.987558798966303 NA NA -0.0377190206341802 0.0100920479845655 NA 0.972300605416405 NA -0.0138134863248073 NA FALSE NA 0.018 -0.948 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA CTG T,C 8.236e-06 20:45809149 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 synonymous_variant 0.672086 0.39455 0.05847 0.732398 0.754205041613927 0 0.431436687799906 FALSE NA ENSE00001042311_013 ENSE00001042311 013 20 44437699 44437868 + 54 72 44 C A 44437804 1487 106 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGCCCTCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809164 45809165 45809165 exon -21 0.722222222222222 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGAGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 403 350 1 1 1 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0429575881334946 0.0124412010336965 NA 0.972300605416405 NA 0.0276993945835955 NA FALSE NA 1 1.868 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA GCG C,A 8.236e-06 20:45809165 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 synonymous_variant 2.573494 0.97143 0.70005 0.706548 0.813840727318108 0 0.431436687799906 FALSE 4.06157e-06 ENSE00001042311_014 ENSE00001042311 014 20 44437699 44437868 + 54 72 44 G C 44437807 1488 109 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCCCCTGTTGGCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809167 45809168 45809168 exon -18 0.763888888888889 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGCCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 379 527 0.971596203545307 0.999128695827328 0.985362449686317 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0145537916788011 0.0115698968610245 NA 0.972300605416405 NA 0.0130618442699128 NA FALSE NA 1 7.916 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA GGC G,C 8.236e-06 20:45809168 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 missense_variant 3.44491 0.99084 0.99206 0.706548 0.997404696977661 0 0.431436687799906 FALSE 4.06138e-06 ENSE00001042311_015 ENSE00001042311 015 20 44437699 44437868 + 54 72 44 G T 44437815 1489 117 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTACCATCTTGCCACCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809175 45809176 45809176 exon -10 0.875 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGTGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 609 93 0.995555694616379 1 0.99777784730819 NA NA 0.957042411866505 0.987558798966303 NA NA 0.038513282749874 0.0124412010336965 NA 0.972300605416405 NA 0.0254772418917852 NA FALSE NA 0.581 -0.699 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA GGG G,T 8.236e-06 20:45809176 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 synonymous_variant 0.695122 0.56881 0.27224 0.706548 0.782328173904974 0 0.431436687799906 FALSE 4.06131e-06 ENSE00001042311_016 ENSE00001042311 016 20 44437699 44437868 + 54 72 44 A C 44437828 1490 130 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCGTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809188 45809189 45809189 downstr_intron 4 1.09302325581395 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTACGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 34 983 0 0 0 NA NA 0.957042411866505 0.987558798966303 NA NA -0.957042411866505 -0.987558798966303 NA 0.972300605416405 NA -0.972300605416405 NA TRUE NA 1 5.701 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA AAG A,C 8.236e-06 20:45809189 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 splice_region_variant 1.637244 0.98887 0.99419 0.099367 0.970560253451553 0.880471 0.431436687799906 FALSE 4.06197e-06 ENSE00001042311_019 ENSE00001042311 019 20 44437699 44437868 + 54 72 44 A T 44437834 1493 136 GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAAAAATGCTTACCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATACTGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 45809194 45809195 45809195 downstr_intron 10 1.23255813953488 ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTTTTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC mutant NA NA NA NA NA 349 58 1 1 1 NA NA 0.957042411866505 0.987558798966303 NA NA 0.0429575881334946 0.0124412010336965 NA 0.972300605416405 NA 0.0276993945835955 NA FALSE NA 0 -0.047 . upstream_gene_variant MODIFIER UBE2C HGNC 15937 ENST00000352551 1 NA TAT A,T 8.236e-06 20:45809195 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042311 intron_variant 0.004055 0.15498 0.09931 0.099367 0.756907098074729 0.0773932 0.431436687799906 FALSE 4.06263e-06 ENSE00001042311_BRK ENSE00001042311 BRK 20 44437699 44437868 + 54 72 44 A,G; T,T NA NA NA GGTGGGGTGGGTCACTGGCAGTGGCACAAATGAATAATGCTTGGCATCTTGCCCCCTGTTGCCCGCATGTGATGCTGCTCAGCCAGCCAGTGCTTATCCTGGGGGTCAGCTGCATAAAGTAAGGAATGAAGTTGTAAGAAAATTAGCCTCGGGTAAGGGGCTTTTCTCAT 45809059 45809229 NA NA NA NA NA NA ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACTTTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGCCAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC ATGAGAAAAGCCCCTTACCCGAGGCTAATTTTCTTACAACTTCATTCCTTACAGTATGCAGCTGACCCCCAGGATAAGCACTGGCTGGCTGAGCAGCATCACATGCGGGCAACAGGGGGCAAGATGGTAAGCATTATTCATTTGTGCCACTGCCAGTGACCCACCCCACC control NA NA NA NA NA 375 21 0 0.110255223895013 0.0551276119475067 NA NA 0.957042411866505 0.987558798966303 NA NA -0.957042411866505 -0.87730357507129 NA 0.972300605416405 NA -0.917172993468898 NA TRUE NA NA NA NA NA NA UBE2C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNTTIP1 NA NA NA ENSG00000101457 ENSE00001042311 NA NA NA NA NA NA NA 0.431436687799906 FALSE NA ENSE00001042507_000 ENSE00001042507 000 20 44429979 44430148 + 62 57 51 NA NA NA NA NA TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 NA NA NA NA NA NA TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC natural 85 82 0.9928906067007 0.988628868684773 0.990759737692736 15239 3070 0.958154137284766 0.993172493620536 0.975663315452651 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 0 0 0 0 0.990759737692736 0.975663315452651 0 0 0 FALSE FALSE NA NA NA NA NA DNTTIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNTTIP1 NA NA NA ENSG00000101457 ENSE00001042507 NA NA NA NA NA NA NA 0.431436687799906 FALSE NA ENSE00001042507_001 ENSE00001042507 001 20 44429979 44430148 + 62 57 51 C T 44430005 1459 27 TCCAGAAGACCTGCAGCTCCCAGGCATTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801365 45801366 45801366 upstr_intron -36 -0.564516129032258 TCCAGAAGACCTGCAGCTCCCAGGCATTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 179 41 0.99744322930593 0.996122857564551 0.996783043435241 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0392890920211638 0.00295036394401504 0.990759737692736 0.975663315452651 NA 0.0211197279825894 NA FALSE NA 0 -0.087 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA ACT C,T 8.236e-06 20:45801366 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 intron_variant 0.325871 0.14908 0.03173 0.099367 0.723867338886498 0.117994 0.431436687799906 FALSE 8.13564e-06 ENSE00001042507_002 ENSE00001042507 002 20 44429979 44430148 + 62 57 51 G A 44430007 1460 29 TCCAGAAGACCTGCAGCTCCCAGGCACTAGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801367 45801368 45801368 upstr_intron -34 -0.532258064516129 TCCAGAAGACCTGCAGCTCCCAGGCACTAGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 25 978 0.912744057571678 1 0.956372028785839 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA -0.0454100797130877 0.00682750637946372 0.990759737692736 0.975663315452651 NA -0.019291286666812 NA FALSE NA 0 0 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA TGG G,A 8.236e-06 20:45801368 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 intron_variant 0.489548 0.18987 0.10753 0.099367 0.640169858143941 0.117994 0.431436687799906 FALSE 1.22017e-05 ENSE00001042507_003 ENSE00001042507 003 20 44429979 44430148 + 62 57 51 C T 44430014 1461 36 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCTACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801374 45801375 45801375 upstr_intron -27 -0.419354838709677 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCTACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 467 639 0.996370562783074 0.996090133134927 0.996230347959001 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0382164254983083 0.00291763951439117 0.990759737692736 0.975663315452651 NA 0.0205670325063497 NA FALSE NA 0.001 0.696 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA CCA C,T 1.647e-05 20:45801375 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 intron_variant 0.219598 0.21095 0.17819 0.156188 0.607410263544402 0.176816 0.431436687799906 FALSE 2.43912e-05 ENSE00001042507_005 ENSE00001042507 005 20 44429979 44430148 + 62 57 51 C T 44430041 1463 63 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGTGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801401 45801402 45801402 exon 1 0.0175438596491228 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGTGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 410 1424 0.855367761194162 0.999732299199587 0.927550030196875 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA -0.102786376090604 0.006559805579051 0.990759737692736 0.975663315452651 NA -0.0481132852557767 NA FALSE NA 1 2.74 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA GCG C,T 8.236e-06 20:45801402 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 missense_variant 5.569362 0.98017 0.97062 0.732398 0.999349636417689 0 0.431436687799906 FALSE 4.0624e-06 ENSE00001042507_006 ENSE00001042507 006 20 44429979 44430148 + 62 57 51 G A 44430042 1464 64 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCATGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801402 45801403 45801403 exon 2 0.0350877192982456 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCATGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 471 68 0.998505091769304 1 0.999252545884652 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0403509544845376 0.00682750637946372 0.990759737692736 0.975663315452651 NA 0.0235892304320007 NA FALSE NA 1 6.809 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA CGT G,A 1.647e-05 20:45801403 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 missense_variant 7.194287 0.99158 0.99372 0.732398 0.999363772666893 0 0.431436687799906 FALSE 2.03115e-05 ENSE00001042507_007 ENSE00001042507 007 20 44429979 44430148 + 62 57 51 G A 44430048 1465 70 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCATCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801408 45801409 45801409 exon 8 0.140350877192982 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCATCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 196 275 0.997022856365002 1 0.998511428182501 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0388687190802356 0.00682750637946372 0.990759737692736 0.975663315452651 NA 0.0228481127298497 NA FALSE NA 0.998 4.002 NA NA NA DNTTIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:45801409 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 missense_variant 7.193792 0.98531 0.96792 0.732398 0.999345426258917 0 0.431436687799906 FALSE 2.03102e-05 ENSE00001042507_009 ENSE00001042507 009 20 44429979 44430148 + 62 57 51 G C 44430062 1467 84 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAACAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801422 45801423 45801423 exon 22 0.385964912280702 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAACAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 899 67 0.938015426352521 0.997051800859329 0.967533613605925 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA -0.0201387109322447 0.00387930723879282 0.990759737692736 0.975663315452651 NA -0.00812970184672596 NA FALSE NA 1 5.855 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 COSM160553 1 NA AGA G,C 8.236e-06 20:45801423 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 missense_variant 3.108179 0.98689 0.98506 0.732398 0.996228327220646 0 0.431436687799906 FALSE 4.06194e-06 ENSE00001042507_010 ENSE00001042507 010 20 44429979 44430148 + 62 57 51 C G 44430069 1468 91 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGGCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801429 45801430 45801430 exon -29 0.508771929824561 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGGCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 11 541 0.996197634405665 1 0.998098817202832 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0380434971208987 0.00682750637946372 0.990759737692736 0.975663315452651 NA 0.0224355017501812 NA FALSE NA 0.999 2.852 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA GCC C,G 8.236e-06 20:45801430 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 missense_variant 2.556785 0.9754 0.78648 0.732398 0.986828303772739 0 0.431436687799906 FALSE 4.06223e-06 ENSE00001042507_011 ENSE00001042507 011 20 44429979 44430148 + 62 57 51 G A 44430075 1469 97 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCAAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801435 45801436 45801436 exon -23 0.614035087719298 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCAAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 1118 389 0.932338280314671 0.997111433579154 0.964724856946913 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA -0.0258158569700951 0.00393893995861805 0.990759737692736 0.975663315452651 NA -0.0109384585057385 NA FALSE NA 1 5.903 rs145739306 downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 rs145739306 1 NA A:0.0002 A:0 CGA G,A 0.0001235 20:45801436 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 missense_variant 4.437119 0.98679 0.97903 0.732398 0.998919758976736 0 0.431436687799906 FALSE 0.000154366 ENSE00001042507_012 ENSE00001042507 012 20 44429979 44430148 + 62 57 51 A C 44430095 1470 117 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAACAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801455 45801456 45801456 exon -3 0.964912280701754 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAACAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 325 11 0.968823030211708 0.985343793273816 0.977083411742762 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0106688929269415 -0.0078287003467199 0.990759737692736 0.975663315452651 NA 0.00142009629011081 NA FALSE NA 1 7.233 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA AAA A,C 2.471e-05 20:45801456 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 missense_variant 4.088404 0.99076 0.99397 0.732398 0.993735217262232 0 0.431436687799906 FALSE 1.21898e-05 ENSE00001042507_013 ENSE00001042507 013 20 44429979 44430148 + 62 57 51 G A 44430126 1471 148 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGACTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 45801486 45801487 45801487 downstr_intron 29 1.58 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGACTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 162 275 0.995863190481628 0.993668972354726 0.994766081418177 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0377090531968615 0.000496478734189787 0.990759737692736 0.975663315452651 NA 0.0191027659655256 NA FALSE NA 0.034 0.091 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA GGC G,A 8.236e-06 20:45801487 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 intron_variant 0.137438 0.16325 0.07731 0.099367 0.639740914041681 0.0472169 0.431436687799906 FALSE 2.44736e-05 ENSE00001042507_014 ENSE00001042507 014 20 44429979 44430148 + 62 57 51 A G 44430135 1472 157 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAGGGCTTGTCAGGCC 45801339 45801509 45801495 45801496 45801496 downstr_intron 38 1.76 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAGGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 359 518 0.85577441742226 0.998089147598857 0.926931782510558 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA -0.102379719862507 0.00491665397832064 0.990759737692736 0.975663315452651 NA -0.048731532942093 NA FALSE NA 0.001 -0.178 . downstream_gene_variant MODIFIER DNTTIP1 HGNC 16160 ENST00000449078 1 NA AAG A,G 8.236e-06 20:45801496 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 intron_variant -0.084373 0.1557 0.00691 0.099367 0.499989576376199 0.0472169 0.431436687799906 FALSE NA ENSE00001042507_015 ENSE00001042507 015 20 44429979 44430148 + 62 57 51 G T 44430137 1473 159 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGTCTTGTCAGGCC 45801339 45801509 45801497 45801498 45801498 downstr_intron 40 1.8 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGTCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 1051 1627 0.999332432709825 0.997233926215007 0.998283179462416 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0411782954250588 0.00406143259447078 0.990759737692736 0.975663315452651 NA 0.0226198640097648 NA FALSE NA 0.002 0.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:45801498 DNTTIP1 HGNC Symbol protein_coding 19490 ENSG00000101457 ENSE00001042507 intron_variant -0.201836 0.21652 0.01453 0.099367 0.622582541467946 0.0472169 0.431436687799906 FALSE 1.22826e-05 ENSE00001042507_016 ENSE00001042507 016 20 44429979 44430148 + 62 57 51 G A 44430137 1474 159 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGACTTGTCAGGCC 45801339 45801509 45801497 45801498 45801498 downstr_intron 40 1.8 TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGACTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC mutant NA NA NA NA NA 281 827 0.99901262557577 0.988743162021144 0.993877893798457 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 NA NA 0.0408584882910038 -0.00442933159939229 0.990759737692736 0.975663315452651 NA 0.0182145783458058 NA FALSE NA 0.002 0.31 NA NA NA DNTTIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNTTIP1 NA NA NA ENSG00000101457 ENSE00001042507 intron_variant 0.10535 0.17464 0.00806 0.099367 0.57460386011842 0.0472169 0.431436687799906 FALSE 8.1884e-06 ENSE00001042507_BRK ENSE00001042507 BRK 20 44429979 44430148 + 62 57 51 A,G; T,T NA NA NA TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTTTCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGCCAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC 45801339 45801509 NA NA NA NA NA NA TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTTTCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGCCAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC TCCAGAAGACCTGCAGCTCCCAGGCACTGGCCTTCCACTGACTCCCTTCCCTTTTCTTTTAGCGTGGCCGTCAGGCAGAAGAAGAATGTGCCCATCGAGGAAGCCCCCTTCCTAAAAAGGTAAACCATTTCCTTGTTTTGTTTTCTGGCTGAAAAAAGGCTTGTCAGGCC control 44 54 0 0 0 NA NA NA NA NA 0.9928906067007 0.988628868684773 0.958154137284766 0.993172493620536 -0.9928906067007 -0.988628868684773 NA NA 0.990759737692736 0.975663315452651 -0.990759737692736 NA NA NA TRUE NA NA NA NA NA DNTTIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNTTIP1 NA NA NA ENSG00000101457 ENSE00001042507 NA NA NA NA NA NA NA 0.431436687799906 FALSE NA ENSE00001042663_000 ENSE00001042663 000 1 21945462 21945631 - 56 48 66 NA NA NA NA NA TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 NA NA NA NA NA NA TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG natural 204 300 0.847308425978803 0.85 0.848654212989401 373 44 0.844983731939893 0.803284169231166 0.824133950585529 0.847308425978803 0.85 0.844983731939893 0.803284169231166 0 0 0 0 0.848654212989401 0.824133950585529 0 0 0 FALSE FALSE NA NA NA NA NA RAP1GAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAP1GAP NA NA NA ENSG00000076864 ENSE00003508365 NA NA NA NA NA NA NA 0.974156915163255 TRUE NA ENSE00001042663_001 ENSE00001042663 001 1 21945462 21945631 - 56 48 66 C A 21945480 668 152 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGTTGGAGGGGGTCCGGGAAG 21618968 21619138 21618986 21618987 21618987 downstr_intron 38 1.69090909090909 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGTTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant NA NA NA NA NA 173 932 0.601851271792787 0.719076981215698 0.660464126504242 0.847308425978803 0.85 0.844983731939893 0.803284169231166 NA NA -0.243132460147106 -0.0842071880154673 0.848654212989401 0.824133950585529 NA -0.163669824081287 NA FALSE NA 0.009 0.06 . intron_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 5/9 TMP_ESP_1_21945480_21945480 1 NA -:0.0047 -:0.0017 ACC C,A 3.333e-05 1:21618987 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 intron_variant 0.320204 0.27368 0.11928 0.095506 0.628252995388901 0.0804089 0.974156915163255 TRUE 3.24461e-05 ENSE00001042663_003 ENSE00001042663 003 1 21945462 21945631 - 56 48 66 C G 21945483 670 149 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGCGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21618989 21618990 21618990 downstr_intron 35 1.63636363636364 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGCGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant 15 12 0.85 0.85 0.85 NA NA NA NA NA 0.847308425978803 0.85 0.844983731939893 0.803284169231166 0.00269157402119713 0 NA NA 0.848654212989401 0.824133950585529 0.00134578701059856 NA NA NA FALSE 0 -0.474 . intron_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 5/9 rs368389534 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0007 G:0 CCC C,G 8.323e-06 1:21618990 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 intron_variant 0.098893 0.29291 0.07593 0.095506 0.654897055976048 0.0804089 0.974156915163255 TRUE 3.16663e-05 ENSE00001042663_004 ENSE00001042663 004 1 21945462 21945631 - 56 48 66 C G 21945484 671 148 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTACGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21618990 21618991 21618991 downstr_intron 34 1.61818181818182 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTACGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant 18 26 0.85 0.85 0.85 180 91 0.8 0.8 0.8 0.847308425978803 0.85 0.844983731939893 0.803284169231166 0.00269157402119713 -1.11022302462516e-16 -0.0449837319398929 -0.0032841692311657 0.848654212989401 0.824133950585529 0.00134578701059851 -0.0241339505855293 0.0254797375961278 FALSE FALSE 0 -0.196 . intron_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 5/9 rs372287643 1 NA G:0 G:0.0001 CCT C,G 1.664e-05 1:21618991 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 intron_variant 0.020848 0.23736 0.05398 0.095506 0.662773695210938 0.0804089 0.974156915163255 TRUE NA ENSE00001042663_006 ENSE00001042663 006 1 21945462 21945631 - 56 48 66 C T 21945530 673 102 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCACCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619036 21619037 21619037 exon -13 0.75 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCACCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant NA NA NA NA NA 148 228 0.8 0.801108020709125 0.800554010354563 0.847308425978803 0.85 0.844983731939893 0.803284169231166 NA NA -0.0449837319398929 -0.00217614852204073 0.848654212989401 0.824133950585529 NA -0.0235799402309668 NA FALSE NA 0.005 -1.323 rs77539762 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 5/10 rs77539762 1 T:0.0539 T:0.1452 T:0.0303 NA T:0 T:0.0378 T:0.0194 T:0.1222 T:0.0343 GCG C,T 0.031 1:21619037 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 synonymous_variant 1.818689 0.65392 0.04525 0.59774 0.816892373348701 0 0.974156915163255 TRUE 0.0322679 ENSE00001042663_010 ENSE00001042663 010 1 21945462 21945631 - 56 48 66 C T 21945550 677 82 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATAAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619056 21619057 21619057 exon 16 0.333333333333333 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATAAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant 100 24 0 0 0 NA NA NA NA NA 0.847308425978803 0.85 0.844983731939893 0.803284169231166 -0.847308425978803 -0.85 NA NA 0.848654212989401 0.824133950585529 -0.848654212989401 NA NA NA TRUE 1 4.758 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 5/10 1 NA TCA C,T 1.652e-05 1:21619057 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 missense_variant 7.379028 0.9633 0.91344 0.582742 0.999103206871349 0 0.974156915163255 TRUE 8.92626e-06 ENSE00001042663_011 ENSE00001042663 011 1 21945462 21945631 - 56 48 66 T C 21945556 678 76 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGGTGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619062 21619063 21619063 exon 10 0.208333333333333 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGGTGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant 81 55 0 0 0 NA NA NA NA NA 0.847308425978803 0.85 0.844983731939893 0.803284169231166 -0.847308425978803 -0.85 NA NA 0.848654212989401 0.824133950585529 -0.848654212989401 NA NA NA TRUE 1 4.864 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 5/10 1 NA ATC T,C 2.48e-05 1:21619063 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 missense_variant 2.132876 0.90422 0.90202 0.582742 0.994256376382122 0 0.974156915163255 TRUE 1.80419e-05 ENSE00001042663_015 ENSE00001042663 015 1 21945462 21945631 - 56 48 66 T C 21945587 682 45 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAGCAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619093 21619094 21619094 upstr_intron -22 -0.318181818181818 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAGCAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant 419 65 0 0 0 NA NA NA NA NA 0.847308425978803 0.85 0.844983731939893 0.803284169231166 -0.847308425978803 -0.85 NA NA 0.848654212989401 0.824133950585529 -0.848654212989401 NA NA NA TRUE 0.283 1.538 rs187507821 intron_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 4/9 rs187507821 1 C:0.0008 C:0.003 C:0 NA C:0 C:0 C:0 C:0.005 C:0 GTT T,C 0.0003079 1:21619094 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 intron_variant 0.005046 0.17087 0.17887 0.095506 0.658639566515181 0.120922 0.974156915163255 TRUE 0.000195634 ENSE00001042663_016 ENSE00001042663 016 1 21945462 21945631 - 56 48 66 C T 21945590 683 42 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTATAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619096 21619097 21619097 upstr_intron -25 -0.363636363636364 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTATAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant NA NA NA NA NA 63 290 0.8 0.804985074786332 0.802492537393166 0.847308425978803 0.85 0.844983731939893 0.803284169231166 NA NA -0.0449837319398929 0.00170090555516611 0.848654212989401 0.824133950585529 NA -0.0216414131923634 NA FALSE NA 0 -0.315 . intron_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 4/9 rs376650283 1 NA T:0 T:0.0001 ACA C,T 1.667e-05 1:21619097 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 intron_variant 0.082587 0.12271 0.02831 0.095506 0.733962669451777 0.120922 0.974156915163255 TRUE NA ENSE00001042663_017 ENSE00001042663 017 1 21945462 21945631 - 56 48 66 C T 21945593 684 39 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGAGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619099 21619100 21619100 upstr_intron -28 -0.409090909090909 TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGAGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant 10 10 0.85 0.85 0.85 NA NA NA NA NA 0.847308425978803 0.85 0.844983731939893 0.803284169231166 0.00269157402119713 0 NA NA 0.848654212989401 0.824133950585529 0.00134578701059856 NA NA NA FALSE 0 -0.007 . intron_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 4/9 rs369047793 1 NA T:0.0005 T:0 CCC C,T 8.372e-06 1:21619100 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 intron_variant 0.390276 0.12363 0.07269 0.095506 0.894393672638511 0.146016 0.974156915163255 TRUE 1.60789e-05 ENSE00001042663_020 ENSE00001042663 020 1 21945462 21945631 - 56 48 66 G C 21945608 687 24 TGGGGAGGGGAGGCAGCGCCTGGGGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619114 21619115 21619115 upstr_intron -43 -0.636363636363636 TGGGGAGGGGAGGCAGCGCCTGGGGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant 31 57 0.85 0.85 0.85 31 318 0.95 0.894425618805452 0.922212809402726 0.847308425978803 0.85 0.844983731939893 0.803284169231166 0.00269157402119713 -1.11022302462516e-16 0.105016268060107 0.0911414495742862 0.848654212989401 0.824133950585529 0.00134578701059851 0.0980788588171966 0.0967330718065981 FALSE FALSE 0 -0.262 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:21619115 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 intron_variant -0.014017 0.15824 0.16075 0.095506 0.536631921601239 0.107209 0.974156915163255 TRUE 1.87458e-05 ENSE00001042663_022 ENSE00001042663 022 1 21945462 21945631 - 56 48 66 G A 21945608 689 24 TGGGGAGGGGAGGCAGCGCCTGGTGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619114 21619115 21619115 upstr_intron -43 -0.636363636363636 TGGGGAGGGGAGGCAGCGCCTGGTGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant NA NA NA NA NA 173 514 0.677562838393808 0.834769191774664 0.756166015084236 0.847308425978803 0.85 0.844983731939893 0.803284169231166 NA NA -0.167420893546085 0.0314850225434987 0.848654212989401 0.824133950585529 NA -0.0679679355012933 NA FALSE NA 0 -0.262 NA NA NA RAP1GAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAP1GAP NA NA NA ENSG00000076864 ENSE00003508365 intron_variant 0.294335 0.14149 0.07297 0.095506 0.826618995258387 0.107209 0.974156915163255 TRUE 1.87458e-05 ENSE00001042663_023 ENSE00001042663 023 1 21945462 21945631 - 56 48 66 C T 21945610 690 22 TGGGGAGGGGAGGCAGCGCCTAGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG 21618968 21619138 21619116 21619117 21619117 upstr_intron -45 -0.666666666666667 TGGGGAGGGGAGGCAGCGCCTAGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG TGGGGAGGGGAGGCAGCGCCTGGCGGCAGGCCTGGGAGGGTGTAACAGTGCTGCCTTCTCTTACAGGGAAGCAGGATGGATGAACAACGCTGCTCCTTCCCGCCGCCCCTCAAAGTAGGTGGGCCTGGCAGTCTGCCTCCCTCTCTAGGGGGTGGAGGGGGTCCGGGAAG mutant NA NA NA NA NA 134 73 0.8 0.8 0.8 0.847308425978803 0.85 0.844983731939893 0.803284169231166 NA NA -0.0449837319398929 -0.00328416923116581 0.848654212989401 0.824133950585529 NA -0.0241339505855294 NA FALSE NA 0.002 0.219 . intron_variant&non_coding_transcript_variant MODIFIER RAP1GAP HGNC 9858 ENST00000374757 4/9 1 NA CCA C,T 8.495e-06 1:21619117 RAP1GAP HGNC Symbol protein_coding 73148 ENSG00000076864 ENSE00003508365 intron_variant 0.277897 0.09957 0.04216 0.095506 0.826939098716956 0.107209 0.974156915163255 TRUE 3.72098e-05 ENSE00001042921_000 ENSE00001042921 000 8 27967831 27968000 + 56 69 45 NA NA NA NA NA GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC 28110313 28110483 NA NA NA NA NA NA GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC natural NA NA NA NA NA 2205 908 0.965293238138797 0.990635582262365 0.977964410200581 NA NA 0.965293238138797 0.990635582262365 NA NA 0 0 NA 0.977964410200581 NA 0 NA FALSE NA NA NA NA NA NA ELP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELP3 NA NA NA ENSG00000134014 ENSE00003667343 NA NA NA NA NA NA NA 3.92611121629076e-07 FALSE NA ENSE00001042921_001 ENSE00001042921 001 8 27967831 27968000 + 56 69 45 A G 27967851 683 21 GAAACTACTTTTTAGTTTTAGTTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC 28110313 28110483 28110333 28110334 28110334 upstr_intron -36 -0.625 GAAACTACTTTTTAGTTTTAGTTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC mutant NA NA NA NA NA 127 26 1 1 1 NA NA 0.965293238138797 0.990635582262365 NA NA 0.034706761861203 0.00936441773763497 NA 0.977964410200581 NA 0.022035589799419 NA FALSE NA 0 -0.384 . intron_variant&NMD_transcript_variant MODIFIER ELP3 HGNC 20696 ENST00000523687 3/12 1 NA AAT A,G 8.236e-06 8:28110334 ELP3 HGNC Symbol protein_coding 101483 ENSG00000134014 ENSE00003667343 intron_variant 0.004946 0.147 0.06667 0.156188 0.44086553751681 0.176007 3.92611121629076e-07 FALSE 8.52348e-06 ENSE00001042921_005 ENSE00001042921 005 8 27967831 27968000 + 56 69 45 T C 27967877 687 47 GTATAAACACCTAATTTTTAAGAAACATGTTTTTTAAAAATGTACCTGTTCTATTCGGTGTCTTGTCTGTAGGAAAGGGTCATATCTGGCACGGATAGCTCTCATGGAGGTTGGCTAGAAGAGGAAAATATTGTTATGCCCACATTGAATTAAAACTAAAAAGTAGTTTC 28110313 28110483 28110359 28110360 28110360 upstr_intron -10 -0.160714285714286 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTCCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC mutant NA NA NA NA NA 318 18 0.997910797330573 1 0.998955398665286 NA NA 0.965293238138797 0.990635582262365 NA NA 0.0326175591917756 0.00936441773763497 NA 0.977964410200581 NA 0.0209909884647053 NA FALSE NA 0.013 0.384 . intron_variant&NMD_transcript_variant MODIFIER ELP3 HGNC 20696 ENST00000523687 3/12 1 NA TTC T,C 8.236e-06 8:28110360 ELP3 HGNC Symbol protein_coding 101483 ENSG00000134014 ENSE00003667343 intron_variant 0.197456 0.33039 0.03669 0.295142 0.740630730840444 0.226137 3.92611121629076e-07 FALSE 8.27164e-06 ENSE00001042921_006 ENSE00001042921 006 8 27967831 27968000 + 56 69 45 T C 27967882 688 52 GTATAAACACCTAATTTTTAAGAAACATGTTTTTTAAAAATGTACCTGTTCTATTCGGTGTCTTGTCTGTAGGAAAGGGTCATATCTGGCACGGATAGCTCTCATGGAGGTTGGCTAGGAGAGAAAAATATTGTTATGCCCACATTGAATTAAAACTAAAAAGTAGTTTC 28110313 28110483 28110364 28110365 28110365 upstr_intron -5 -0.0714285714285714 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTCCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC mutant NA NA NA NA NA 298 59 0.995063989582302 0.997309924483578 0.99618695703294 NA NA 0.965293238138797 0.990635582262365 NA NA 0.0297707514435055 0.00667434222121266 NA 0.977964410200581 NA 0.0182225468323591 NA FALSE NA 0 -1.041 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ELP3 HGNC 20696 ENST00000523687 3/12 1 NA TTC T,C 1.647e-05 8:28110365 ELP3 HGNC Symbol protein_coding 101483 ENSG00000134014 ENSE00003667343 splice_region_variant -0.166846 0.18741 0.07845 0.295142 0.660490190854849 0.239025 3.92611121629076e-07 FALSE 1.22401e-05 ENSE00001042921_009 ENSE00001042921 009 8 27967831 27968000 + 56 69 45 C T 27967892 691 62 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACTTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC 28110313 28110483 28110374 28110375 28110375 exon 6 0.0869565217391304 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACTTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC mutant NA NA NA NA NA 529 239 0.997721864604655 1 0.998860932302327 NA NA 0.965293238138797 0.990635582262365 NA NA 0.032428626465858 0.00936441773763497 NA 0.977964410200581 NA 0.0208965221017465 NA FALSE NA 0.003 -1.505 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ELP3 HGNC 20696 ENST00000523687 4/13 1 NA CCT C,T 8.236e-06 8:28110375 ELP3 HGNC Symbol protein_coding 101483 ENSG00000134014 ENSE00003667343 missense_variant 1.764812 0.94675 0.13013 0.732398 0.977566093898407 0 3.92611121629076e-07 FALSE 8.13888e-06 ENSE00001042921_014 ENSE00001042921 014 8 27967831 27968000 + 56 69 45 A G 27967905 696 75 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTGTCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC 28110313 28110483 28110387 28110388 28110388 exon 19 0.27536231884058 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTGTCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC mutant NA NA NA NA NA 717 379 0.999942589389224 0.998069023701548 0.999005806545386 NA NA 0.965293238138797 0.990635582262365 NA NA 0.0346493512504273 0.00743344143918334 NA 0.977964410200581 NA 0.0210413963448053 NA FALSE NA 1 8.556 NA NA NA ELP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:28110388 ELP3 HGNC Symbol protein_coding 101483 ENSG00000134014 ENSE00003667343 missense_variant 2.830185 0.98802 0.99097 0.732398 0.998633963515949 0 3.92611121629076e-07 FALSE 8.13002e-06 ENSE00001042921_016 ENSE00001042921 016 8 27967831 27968000 + 56 69 45 G A 27967909 698 79 GTATAAACACCTAATTTTTAAGAAACATGTTTTTTAAAAATGTACCTGTTCTATTCGGTGTCTTGTCTGTAGGAAAGGGTCATATCTGGCATGGATAGCTCTCATGGAGGTTGGCTAGAAGAGAAAAATATTGTTATGCCCACATTGAATTAAAACTAAAAAGTAGTTTC 28110313 28110483 28110391 28110392 28110392 exon 23 0.333333333333333 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCATGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC mutant NA NA NA NA NA 200 242 1 1 1 NA NA 0.965293238138797 0.990635582262365 NA NA 0.034706761861203 0.00936441773763497 NA 0.977964410200581 NA 0.022035589799419 NA FALSE NA 1 9.045 rs144486746 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ELP3 HGNC 20696 ENST00000523687 4/13 rs144486746 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0005 A:0.0002 CGT G,A 9.06e-05 8:28110392 ELP3 HGNC Symbol protein_coding 101483 ENSG00000134014 ENSE00003667343 missense_variant 7.277824 0.99047 0.99139 0.732398 0.99938705542348 0 3.92611121629076e-07 FALSE 0.000101689 ENSE00001042921_025 ENSE00001042921 025 8 27967831 27968000 + 56 69 45 A G 27967973 707 143 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACGTGTTTCTTAAAAATTAGGTGTTTATAC 28110313 28110483 28110455 28110456 28110456 downstr_intron 18 1.40909090909091 GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACGTGTTTCTTAAAAATTAGGTGTTTATAC GAAACTACTTTTTAGTTTTAATTCAATGTGGGCATAACAATATTTTTCTCTTCTAGCCAACCTCCATGAGAGCTATCCGTGCCAGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGGTACATTTTTAAAAAACATGTTTCTTAAAAATTAGGTGTTTATAC mutant NA NA NA NA NA 27 37 1 1 1 NA NA 0.965293238138797 0.990635582262365 NA NA 0.034706761861203 0.00936441773763497 NA 0.977964410200581 NA 0.022035589799419 NA FALSE NA 0 -0.025 . intron_variant&NMD_transcript_variant MODIFIER ELP3 HGNC 20696 ENST00000523687 4/12 1 NA CAT A,G 8.236e-06 8:28110456 ELP3 HGNC Symbol protein_coding 101483 ENSG00000134014 ENSE00003667343 non_coding_transcript_exon_variant -0.055213 0.19049 0.14719 0.099367 0.417233174589121 0.0945736 3.92611121629076e-07 FALSE 4.2645e-06 ENSE00001045978_000 ENSE00001045978 000 17 57886107 57886276 + 50 81 39 NA NA NA NA NA TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG 59808745 59808915 NA NA NA NA NA NA TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG natural 99 200 0.85 0.869462808216846 0.859731404108423 2464 2670 0.866516079301449 0.940409909764987 0.903462994533218 0.85 0.869462808216846 0.866516079301449 0.940409909764987 0 0 0 0 0.859731404108423 0.903462994533218 0 0 0 FALSE FALSE NA NA NA NA NA VMP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VMP1 NA NA NA ENSG00000062716 ENSE00003511298 NA NA NA NA NA NA NA 0.930655518495749 TRUE NA ENSE00001045978_001 ENSE00001045978 001 17 57886107 57886276 + 50 81 39 T G 57886122 2753 16 TCCTTCTTTTCCTACGTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG 59808745 59808915 59808760 59808761 59808761 upstr_intron -35 -0.68 TCCTTCTTTTCCTACGTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG mutant NA NA NA NA NA 73 344 0.927414899005099 0.966856242062821 0.94713557053396 0.85 0.869462808216846 0.866516079301449 0.940409909764987 NA NA 0.0608988197036501 0.0264463322978337 0.859731404108423 0.903462994533218 NA 0.0436725760007419 NA FALSE NA 0 -0.068 . intron_variant MODIFIER VMP1 HGNC 29559 ENST00000591877 1/6 1 NA CTT T,G 8.237e-06 17:59808761 VMP1 HGNC Symbol protein_coding 135063 ENSG00000062716 ENSE00003511298 intron_variant 0.307507 0.26071 0.07707 0.162113 0.70933846787586 0.0472809 0.930655518495749 TRUE 4.15079e-06 ENSE00001045978_002 ENSE00001045978 002 17 57886107 57886276 + 50 81 39 T G 57886125 2754 19 TCCTTCTTTTCCTACTTCGCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG 59808745 59808915 59808763 59808764 59808764 upstr_intron -32 -0.62 TCCTTCTTTTCCTACTTCGCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG mutant NA NA NA NA NA 733 41 0.952988288696299 0.946202670290994 0.949595479493647 0.85 0.869462808216846 0.866516079301449 0.940409909764987 NA NA 0.0864722093948505 0.00579276052600652 0.859731404108423 0.903462994533218 NA 0.0461324849604285 NA FALSE NA 0.001 1.841 rs2645487 intron_variant MODIFIER VMP1 HGNC 29559 ENST00000591877 1/6 rs2645487 1 G:0.3253 G:0.357 G:0.1787 NA G:0.4563 G:0.1839 G:0.3967 G:0.3243 G:0.2078 CTC T,G 0.26 17:59808764 VMP1 HGNC Symbol protein_coding 135063 ENSG00000062716 ENSE00003511298 intron_variant 0.539865 0.23537 0.20249 0.162113 0.613428770333188 0.0547357 0.930655518495749 TRUE 0.254787 ENSE00001045978_003 ENSE00001045978 003 17 57886107 57886276 + 50 81 39 C T 57886126 2755 20 TCCTTCTTTTCCTACTTCTTATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG 59808745 59808915 59808764 59808765 59808765 upstr_intron -31 -0.6 TCCTTCTTTTCCTACTTCTTATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG mutant NA NA NA NA NA 281 295 0.952994545372825 0.974358845677991 0.963676695525408 0.85 0.869462808216846 0.866516079301449 0.940409909764987 NA NA 0.0864784660713762 0.033948935913004 0.859731404108423 0.903462994533218 NA 0.0602137009921901 NA FALSE NA 0.003 -0.626 . intron_variant MODIFIER VMP1 HGNC 29559 ENST00000591877 1/6 rs374067667 1 NA T:0.0014 T:0 TCA C,T 6.589e-05 17:59808765 VMP1 HGNC Symbol protein_coding 135063 ENSG00000062716 ENSE00003511298 intron_variant 0.577833 0.19112 0.02328 0.162113 0.67384136627486 0.0547357 0.930655518495749 TRUE 3.69652e-05 ENSE00001045978_004 ENSE00001045978 004 17 57886107 57886276 + 50 81 39 A G 57886127 2756 21 TCCTTCTTTTCCTACTTCTCGTTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG 59808745 59808915 59808765 59808766 59808766 upstr_intron -30 -0.58 TCCTTCTTTTCCTACTTCTCGTTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG mutant NA NA NA NA NA 186 12 0.817189154743786 0.95 0.883594577371893 0.85 0.869462808216846 0.866516079301449 0.940409909764987 NA NA -0.0493269245576631 0.00959009023501289 0.859731404108423 0.903462994533218 NA -0.0198684171613251 NA FALSE NA 0.479 1.151 rs77926235 intron_variant MODIFIER VMP1 HGNC 29559 ENST00000591877 1/6 rs77926235 1 G:0.0387 G:0.1422 G:0.0086 NA G:0 G:0 G:0 G:0.0942 G:0.0001 CAT A,G 0.009406 17:59808766 VMP1 HGNC Symbol protein_coding 135063 ENSG00000062716 ENSE00003511298 intron_variant 0.634961 0.25224 0.26644 0.162113 0.804492384100747 0.0547357 0.930655518495749 TRUE 0.00718769 ENSE00001045978_007 ENSE00001045978 007 17 57886107 57886276 + 50 81 39 T G 57886148 2759 42 TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCGTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG 59808745 59808915 59808786 59808787 59808787 upstr_intron -9 -0.16 TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCGTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG mutant 20 46 0.85 0.85 0.85 1124 652 0.798103518129155 0.8 0.799051759064578 0.85 0.869462808216846 0.866516079301449 0.940409909764987 0 -0.0194628082168461 -0.0684125611722939 -0.140409909764987 0.859731404108423 0.903462994533218 -0.00973140410842305 -0.10441123546864 0.0946798313602174 FALSE FALSE 0.034 1.06 . intron_variant MODIFIER VMP1 HGNC 29559 ENST00000591877 1/6 1 NA CTT T,G 1.647e-05 17:59808787 VMP1 HGNC Symbol protein_coding 135063 ENSG00000062716 ENSE00003511298 intron_variant 1.474161 0.18545 0.04225 0.262962 0.730900394724873 0.0984845 0.930655518495749 TRUE 6.14311e-05 ENSE00001045978_008 ENSE00001045978 008 17 57886107 57886276 + 50 81 39 T C 57886162 2760 56 TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTCGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG 59808745 59808915 59808800 59808801 59808801 exon 6 0.0740740740740741 TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTCGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG mutant NA NA NA NA NA 948 1232 0.999347012875683 0.999969103872441 0.999658058374062 0.85 0.869462808216846 0.866516079301449 0.940409909764987 NA NA 0.132830933574234 0.059559194107454 0.859731404108423 0.903462994533218 NA 0.0961950638408442 NA FALSE NA 1 2.53 . synonymous_variant LOW VMP1 HGNC 29559 ENST00000591877 2/7 rs202115949 1 NA TTG T,C 8.236e-06 17:59808801 VMP1 HGNC Symbol protein_coding 135063 ENSG00000062716 ENSE00003511298 missense_variant 0.093004 0.98164 0.87853 0.706298 0.728011684537029 0 0.930655518495749 TRUE 1.21978e-05 ENSE00001045978_014 ENSE00001045978 014 17 57886107 57886276 + 50 81 39 A G 57886192 2766 86 TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAGCTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG 59808745 59808915 59808830 59808831 59808831 exon 36 0.444444444444444 TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAGCTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG mutant NA NA NA NA NA 496 1143 0.960040641805088 0.96634174807577 0.963191194940429 0.85 0.869462808216846 0.866516079301449 0.940409909764987 NA NA 0.0935245625036389 0.0259318383107827 0.859731404108423 0.903462994533218 NA 0.0597282004072108 NA FALSE NA 0.021 -0.716 . synonymous_variant LOW VMP1 HGNC 29559 ENST00000591877 2/7 1 NA AAC A,G 3.295e-05 17:59808831 VMP1 HGNC Symbol protein_coding 135063 ENSG00000062716 ENSE00003511298 missense_variant -0.119245 0.9597 0.11985 0.706298 0.565664155520145 0 0.930655518495749 TRUE 2.84294e-05 ENSE00001045978_017 ENSE00001045978 017 17 57886107 57886276 + 50 81 39 A G 57886259 2769 153 TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACGGAACTTTTACTAAGTGG 59808745 59808915 59808897 59808898 59808898 downstr_intron 22 1.57894736842105 TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACGGAACTTTTACTAAGTGG TCCTTCTTTTCCTACTTCTCATTAATGTTTCTAAATTTGCCTTTTTACAGGACTTTGCCTCCCGGGCCAAACTGGCAGTTCAAAAACTAGTACAGAAAGTTGGATTTTTTGGAATTTTGGCCTGTGCTTCAGTAAGTGAATTGTATTAAAACAGAACTTTTACTAAGTGG mutant NA NA NA NA NA 486 289 0.80033150320471 0.800874361764962 0.800602932484836 0.85 0.869462808216846 0.866516079301449 0.940409909764987 NA NA -0.0661845760967392 -0.139535548000026 0.859731404108423 0.903462994533218 NA -0.102860062048382 NA FALSE NA 0.928 2.339 . intron_variant MODIFIER VMP1 HGNC 29559 ENST00000591877 2/6 1 NA CAG A,G 8.237e-06 17:59808898 VMP1 HGNC Symbol protein_coding 135063 ENSG00000062716 ENSE00003511298 intron_variant -0.071776 0.37427 0.52367 0.053691 0.802303418155178 0.0851739 0.930655518495749 TRUE NA ENSE00001046241_000 ENSE00001046241 000 12 9073531 9073700 + 50 81 39 NA NA NA NA NA TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 NA NA NA NA NA NA TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG natural 38 62 0.835439571411215 0.85 0.842719785705608 1062 1231 0.881827626979753 0.844140403878312 0.862984015429033 0.835439571411215 0.85 0.881827626979753 0.844140403878312 0 0 0 0 0.842719785705608 0.862984015429033 0 0 0 FALSE FALSE NA NA NA NA NA PHC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHC1 NA NA NA ENSG00000111752 ENSE00003554253 NA NA NA NA NA NA NA 0.997152365464677 TRUE NA ENSE00001046241_002 ENSE00001046241 002 12 9073531 9073700 + 50 81 39 T C 9073547 658 17 TTTTTCCTTCACTGTCCTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920950 8920951 8920951 upstr_intron -34 -0.66 TTTTTCCTTCACTGTCCTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 354 73 0.8 0.8 0.8 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.081827626979753 -0.0441404038783124 0.842719785705608 0.862984015429033 NA -0.0629840154290327 NA FALSE NA 0.004 1.923 rs145443946 intron_variant MODIFIER PHC1 HGNC 3182 ENST00000541181 2/3 rs145443946 1 C:0.003 C:0.0014 NA C:0 C:0 C:0 C:0.0027 C:0 CTT T,C 0.0002965 12:8920951 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 intron_variant 0.590986 0.95473 0.21787 0.069865 0.683890051426717 0.712396 0.997152365464677 TRUE 0.000301264 ENSE00001046241_003 ENSE00001046241 003 12 9073531 9073700 + 50 81 39 T C 9073558 659 28 TTTTTCCTTCACTGTCTTTGCTATTTCCTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920961 8920962 8920962 upstr_intron -23 -0.44 TTTTTCCTTCACTGTCTTTGCTATTTCCTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 1196 517 0.716571550064035 0.8 0.758285775032017 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.165256076915718 -0.0441404038783123 0.842719785705608 0.862984015429033 NA -0.104698240397015 NA FALSE NA 0.004 0.41 . intron_variant MODIFIER PHC1 HGNC 3182 ENST00000541181 2/3 1 NA CTT T,C 3.295e-05 12:8920962 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 intron_variant 1.762214 0.20657 0.06994 0.069865 0.836102632070199 0.253935 0.997152365464677 TRUE 4.33557e-05 ENSE00001046241_004 ENSE00001046241 004 12 9073531 9073700 + 50 81 39 C T 9073570 660 40 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCTCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920973 8920974 8920974 upstr_intron -11 -0.2 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCTCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant 26 36 0.85 0.85 0.85 239 117 0.982603595907901 0.95 0.966301797953951 0.835439571411215 0.85 0.881827626979753 0.844140403878312 0.0145604285887847 -1.11022302462516e-16 0.100775968928148 0.105859596121688 0.842719785705608 0.862984015429033 0.0072802142943923 0.103317782524918 0.0960375682305257 FALSE FALSE 0.002 1.054 . intron_variant MODIFIER PHC1 HGNC 3182 ENST00000541181 2/3 1 NA CCC C,T 1.647e-05 12:8920974 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 intron_variant 1.858003 0.19226 0.13699 0.069865 0.792286442738122 0.338589 0.997152365464677 TRUE 1.25365e-05 ENSE00001046241_005 ENSE00001046241 005 12 9073531 9073700 + 50 81 39 C T 9073571 661 41 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCTCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920974 8920975 8920975 upstr_intron -10 -0.18 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCTCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 38 901 0.83340118900723 0.932039626105631 0.882720407556431 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.0484264379725229 0.0878992222273187 0.842719785705608 0.862984015429033 NA 0.0197363921273979 NA FALSE NA 0 -0.473 . intron_variant MODIFIER PHC1 HGNC 3182 ENST00000541181 2/3 1 NA CCC C,T 8.237e-06 12:8920975 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 intron_variant 1.742766 0.14562 0.01198 0.069865 0.678308497505645 0.338589 0.997152365464677 TRUE 4.13623e-06 ENSE00001046241_006 ENSE00001046241 006 12 9073531 9073700 + 50 81 39 T G 9073573 662 43 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCGTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920976 8920977 8920977 upstr_intron -8 -0.14 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCGTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 640 182 0.8 0.8 0.8 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.081827626979753 -0.0441404038783123 0.842719785705608 0.862984015429033 NA -0.0629840154290326 NA FALSE NA 0.059 1.674 . splice_region_variant&intron_variant LOW PHC1 HGNC 3182 ENST00000541181 2/3 rs373733747 1 NA G:0 G:0.0001 CTT T,G 8.237e-06 12:8920977 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 splice_region_variant 1.27865 0.3084 0.5782 0.069865 0.742335724500907 0.337752 0.997152365464677 TRUE 4.12218e-06 ENSE00001046241_007 ENSE00001046241 007 12 9073531 9073700 + 50 81 39 A G 9073586 663 56 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACGATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920989 8920990 8920990 exon 6 0.0740740740740741 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACGATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 1017 133 0.959969264013857 0.785116354121063 0.87254280906746 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA 0.0781416370341043 -0.0590240497572497 0.842719785705608 0.862984015429033 NA 0.00955879363842727 NA FALSE NA 0 -3.463 . synonymous_variant LOW PHC1 HGNC 3182 ENST00000541181 3/4 1 NA CAA A,G 5.766e-05 12:8920990 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 synonymous_variant 0.329139 0.11025 0.0252 0.67177 0.476128692047527 0 0.997152365464677 TRUE 5.31632e-05 ENSE00001046241_008 ENSE00001046241 008 12 9073531 9073700 + 50 81 39 T C 9073588 664 58 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAACTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920991 8920992 8920992 exon 8 0.0987654320987654 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAACTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 424 2299 0.938873209204374 0.887973836292672 0.913423522748523 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA 0.0570455822246212 0.0438334324143592 0.842719785705608 0.862984015429033 NA 0.0504395073194902 NA FALSE NA 1 7.492 . missense_variant MODERATE PHC1 HGNC 3182 ENST00000541181 3/4 1 deleterious(0) benign(0.054) NA ATT T,C 1.647e-05 12:8920992 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 missense_variant 4.749669 0.99167 0.99508 0.67177 0.991417881314258 0 0.997152365464677 TRUE 1.22608e-05 ENSE00001046241_009 ENSE00001046241 009 12 9073531 9073700 + 50 81 39 G A 9073593 665 63 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTACCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920996 8920997 8920997 exon 13 0.160493827160494 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTACCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 583 31 0.961303604723858 0.965425191764295 0.963364398244076 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA 0.0794759777441054 0.121284787885982 0.842719785705608 0.862984015429033 NA 0.100380382815044 NA FALSE NA 1 9.214 . missense_variant MODERATE PHC1 HGNC 3182 ENST00000541181 3/4 rs368559503 1 deleterious(0) possibly_damaging(0.908) NA A:0.0002 A:0 TGC G,A 8.237e-06 12:8920997 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 missense_variant 6.98291 0.99447 0.99684 0.67177 0.999103941775845 0 0.997152365464677 TRUE NA ENSE00001046241_010 ENSE00001046241 010 12 9073531 9073700 + 50 81 39 A G 9073596 666 66 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCGGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8920999 8921000 8921000 exon 16 0.197530864197531 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCGGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 136 1237 0.961976967952927 0.959263469292121 0.960620218622524 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA 0.0801493409731738 0.115123065413809 0.842719785705608 0.862984015429033 NA 0.0976362031934915 NA FALSE NA 1 8.716 . missense_variant MODERATE PHC1 HGNC 3182 ENST00000541181 3/4 1 tolerated(0.47) benign(0.018) NA CAG A,G 8.237e-06 12:8921000 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 missense_variant 5.680157 0.99309 0.99683 0.67177 0.99488787984915 0 0.997152365464677 TRUE 8.16387e-06 ENSE00001046241_012 ENSE00001046241 012 12 9073531 9073700 + 50 81 39 C T 9073606 668 76 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGTCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8921009 8921010 8921010 exon 26 0.320987654320988 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGTCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 144 109 0.8 0.802651004134108 0.801325502067054 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.081827626979753 -0.0414893997442047 0.842719785705608 0.862984015429033 NA -0.0616585133619789 NA FALSE NA 1 5.542 . missense_variant MODERATE PHC1 HGNC 3182 ENST00000541181 3/4 1 deleterious(0.02) possibly_damaging(0.866) NA GCC C,T 8.236e-06 12:8921010 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 missense_variant 6.914719 0.99009 0.9912 0.67177 0.999019766074236 0 0.997152365464677 TRUE 4.07143e-06 ENSE00001046241_013 ENSE00001046241 013 12 9073531 9073700 + 50 81 39 C T 9073612 669 82 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTTCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8921015 8921016 8921016 exon 32 0.395061728395062 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTTCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 14 629 0.95 0.948664836800362 0.949332418400181 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA 0.0681723730202469 0.10452443292205 0.842719785705608 0.862984015429033 NA 0.0863484029711484 NA FALSE NA 1 7.287 . missense_variant MODERATE PHC1 HGNC 3182 ENST00000541181 3/4 1 deleterious(0) probably_damaging(0.919) NA TCC C,T 8.237e-06 12:8921016 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 missense_variant 6.903287 0.99434 0.99527 0.67177 0.998587221713352 0 0.997152365464677 TRUE 4.06937e-06 ENSE00001046241_016 ENSE00001046241 016 12 9073531 9073700 + 50 81 39 C T 9073646 672 116 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACTACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8921049 8921050 8921050 exon -16 0.814814814814815 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACTACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 97 18 0.801659916942629 0.8 0.800829958471315 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.0801677100371238 -0.0441404038783123 0.842719785705608 0.862984015429033 NA -0.062154056957718 NA FALSE NA 0.994 0.873 . synonymous_variant LOW PHC1 HGNC 3182 ENST00000541181 3/4 1 NA CCA C,T 4.942e-05 12:8921050 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 synonymous_variant 1.186451 0.98348 0.85194 0.67177 0.700358884633481 0 0.997152365464677 TRUE 5.71289e-05 ENSE00001046241_017 ENSE00001046241 017 12 9073531 9073700 + 50 81 39 A G 9073654 673 124 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCGGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8921057 8921058 8921058 exon -8 0.91358024691358 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCGGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant 10 33 0.85 0.85 0.85 NA NA NA NA NA 0.835439571411215 0.85 0.881827626979753 0.844140403878312 0.0145604285887847 -1.11022302462516e-16 NA NA 0.842719785705608 0.862984015429033 0.0072802142943923 NA NA NA FALSE 1 5.814 rs139679067 missense_variant MODERATE PHC1 HGNC 3182 ENST00000541181 3/4 rs139679067 1 tolerated(0.08) benign(0.053) NA G:0 G:0.0001 CAG A,G 1.647e-05 12:8921058 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 missense_variant 3.809499 0.99277 0.99315 0.67177 0.995440501204534 0 0.997152365464677 TRUE 8.18599e-06 ENSE00001046241_018 ENSE00001046241 018 12 9073531 9073700 + 50 81 39 G A 9073661 674 131 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCAGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8921064 8921065 8921065 exon -1 1 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCAGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 38 90 0.0130464010134337 0.0108742418042033 0.0119603214088185 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.868781225966319 -0.833266162074109 0.842719785705608 0.862984015429033 NA -0.851023694020214 NA TRUE NA 0 -3.778 . splice_region_variant&synonymous_variant LOW PHC1 HGNC 3182 ENST00000541181 3/4 1 NA CGG G,A 2.471e-05 12:8921065 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 splice_region_variant 0.367638 0.12089 0.01156 0.67177 0.534249879226996 0 0.997152365464677 TRUE 1.64503e-05 ENSE00001046241_019 ENSE00001046241 019 12 9073531 9073700 + 50 81 39 A G 9073668 675 138 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTGCGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8921071 8921072 8921072 downstr_intron 7 1.18421052631579 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTGCGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 134 418 0.0493506663700021 0 0.024675333185001 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.832476960609751 -0.844140403878312 0.842719785705608 0.862984015429033 NA -0.838308682244032 NA TRUE NA 0.001 0.18 . splice_region_variant&intron_variant LOW PHC1 HGNC 3182 ENST00000541181 3/3 rs199761930 1 NA G:0 G:0.0005 TAC A,G 0.0002883 12:8921072 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 splice_region_variant -0.043497 0.58733 0.04904 0.099367 0.420824135752989 0.29362 0.997152365464677 TRUE 0.00022454 ENSE00001046241_020 ENSE00001046241 020 12 9073531 9073700 + 50 81 39 C T 9073669 676 139 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTATGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 8921072 8921073 8921073 downstr_intron 8 1.21052631578947 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTATGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 411 161 0.801026225134283 0.8 0.800513112567142 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA -0.0808014018454698 -0.0441404038783123 0.842719785705608 0.862984015429033 NA -0.0624709028618911 NA FALSE NA 0 0.308 . splice_region_variant&intron_variant LOW PHC1 HGNC 3182 ENST00000541181 3/3 rs369688884 1 NA T:0 T:0.0001 ACG C,T 4.118e-05 12:8921073 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 splice_region_variant 0.558327 0.53512 0.06657 0.099367 0.3444473156643 0.288701 0.997152365464677 TRUE 2.96199e-05 ENSE00001046241_023 ENSE00001046241 023 12 9073531 9073700 + 50 81 39 G A 9073685 679 155 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAAAGGCTTCTCTACCTG 8920934 8921104 8921088 8921089 8921089 downstr_intron 24 1.63157894736842 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAAAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 1435 105 0.998760263471215 0.848041912903109 0.923401088187162 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA 0.116932636491462 0.00390150902479647 0.842719785705608 0.862984015429033 NA 0.0604170727581293 NA FALSE NA 0 -0.095 . intron_variant MODIFIER PHC1 HGNC 3182 ENST00000541181 3/3 1 NA AGA G,A 6.589e-05 12:8921089 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 intron_variant 0.397262 0.26374 0.08857 0.115753 0.782686318085896 0.124788 0.997152365464677 TRUE 9.39925e-05 ENSE00001046241_024 ENSE00001046241 024 12 9073531 9073700 + 50 81 39 G T 9073688 680 158 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGTCTTCTCTACCTG 8920934 8921104 8921091 8921092 8921092 downstr_intron 27 1.71052631578947 TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGTCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG mutant NA NA NA NA NA 293 2589 0.990002528264434 0.997520354942112 0.993761441603273 0.835439571411215 0.85 0.881827626979753 0.844140403878312 NA NA 0.108174901284681 0.1533799510638 0.842719785705608 0.862984015429033 NA 0.130777426174241 NA FALSE NA 0 0.003 . intron_variant MODIFIER PHC1 HGNC 3182 ENST00000541181 3/3 1 NA GGC G,T 8.237e-06 12:8921092 PHC1 HGNC Symbol protein_coding 27571 ENSG00000111752 ENSE00003554253 intron_variant 0.142533 0.25926 0.02053 0.115753 0.870449445723754 0.124788 0.997152365464677 TRUE NA ENSE00001046241_BRK ENSE00001046241 BRK 12 9073531 9073700 + 50 81 39 A,G; T,T NA NA NA TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATTTGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGCCGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG 8920934 8921104 NA NA NA NA NA NA TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATTTGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGCCGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG TTTTTCCTTCACTGTCTTTGCTATTTCTTGTTTCCCTTCCCCTTTAATAGGCCACAATTGCTGCCAGTCGGCAGGCCAGCTCCCCAAACACCAGCACTACACAGCAGCAGACTACCACCACCCAGGCCTCGGTGAGTACGCCCTCTCCCACTGAGAGGCTTCTCTACCTG control 295 45 0 0 0 665 535 0.00639560867429781 0.00059823884303514 0.00349692375866648 0.835439571411215 0.85 0.881827626979753 0.844140403878312 -0.835439571411215 -0.85 -0.875432018305455 -0.843542165035277 0.842719785705608 0.862984015429033 -0.842719785705608 -0.859487091670366 0.0167673059647586 TRUE TRUE NA NA NA NA NA PHC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHC1 NA NA NA ENSG00000111752 ENSE00003554253 NA NA NA NA NA NA NA 0.997152365464677 TRUE NA ENSE00001049321_000 ENSE00001049321 000 1 32148490 32148659 - 45 69 56 NA NA NA NA NA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA 31682888 31683058 NA NA NA NA NA NA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA natural NA NA NA NA NA 530 885 0.958195892518716 0.993236086357087 0.975715989437901 NA NA 0.958195892518716 0.993236086357087 NA NA 0 0 NA 0.975715989437901 NA 0 NA FALSE NA NA NA NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00001049321 NA NA NA NA NA NA NA 3.38473511158888e-15 FALSE NA ENSE00001049321_003 ENSE00001049321 003 1 32148490 32148659 - 45 69 56 C T 32148530 1103 130 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAATCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA 31682888 31683058 31682928 31682929 31682929 downstr_intron 5 1.11363636363636 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAATCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA mutant 31 31 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.958195892518716 0.993236086357087 NA NA NA NA NA 0.975715989437901 NA NA NA NA NA 0.889 2.213 . splice_region_variant&intron_variant LOW COL16A1 HGNC 2193 ENST00000373672 37/70 rs200491490 1 NA ACT C,T 2.481e-05 1:31682929 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001049321 splice_region_variant 1.396218 0.98437 0.83529 0.084033 0.86177691179832 0.950457 3.38473511158888e-15 FALSE 3.25166e-05 ENSE00001049321_005 ENSE00001049321 005 1 32148490 32148659 - 45 69 56 T C 32148532 1105 128 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTGAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA 31682888 31683058 31682930 31682931 31682931 downstr_intron 3 1.06818181818182 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTGAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA mutant 65 132 0.85 0.87769998472907 0.863849992364535 245 859 0.950439919109168 0.943889248142074 0.947164583625621 NA NA 0.958195892518716 0.993236086357087 NA NA -0.00775597340954748 -0.0493468382150132 NA 0.975715989437901 NA -0.0285514058122803 NA FALSE NA 0.964 0.368 NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:31682931 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001049321 splice_region_variant 0.3428 0.9618 0.63829 0.084033 0.576742774483164 0.193574 3.38473511158888e-15 FALSE 4.06438e-06 ENSE00001049321_009 ENSE00001049321 009 1 32148490 32148659 - 45 69 56 G C 32148545 1109 115 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTGTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA 31682888 31683058 31682943 31682944 31682944 exon -11 0.855072463768116 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTGTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA mutant NA NA NA NA NA 215 66 0.997680165024256 0.992133896625965 0.99490703082511 NA NA 0.958195892518716 0.993236086357087 NA NA 0.0394842725055402 -0.00110218973112208 NA 0.975715989437901 NA 0.0191910413872091 NA FALSE NA 0.607 2.09 . missense_variant MODERATE COL16A1 HGNC 2193 ENST00000373672 37/71 1 unknown(0) NA AGA G,C 4.135e-05 1:31682944 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001049321 missense_variant 2.115645 0.97988 0.49325 0.615465 0.976207634527529 0 3.38473511158888e-15 FALSE 4.47016e-05 ENSE00001049321_016 ENSE00001049321 016 1 32148490 32148659 - 45 69 56 G A 32148577 1116 83 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACTGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA 31682888 31683058 31682975 31682976 31682976 exon 27 0.391304347826087 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACTGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA mutant NA NA NA NA NA 43 25 1 0.998463048960043 0.999231524480022 NA NA 0.958195892518716 0.993236086357087 NA NA 0.0418041074812844 0.00522696260295619 NA 0.975715989437901 NA 0.0235155350421203 NA FALSE NA 0 -1.808 NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:31682976 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001049321 synonymous_variant 0.912623 0.10478 0.00856 0.615465 0.311417902581543 0 3.38473511158888e-15 FALSE 6.50782e-05 ENSE00001049321_020 ENSE00001049321 020 1 32148490 32148659 - 45 69 56 G T 32148625 1120 35 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACATTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA 31682888 31683058 31683023 31683024 31683024 upstr_intron -22 -0.375 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACATTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA mutant NA NA NA NA NA 155 28 1 1 1 NA NA 0.958195892518716 0.993236086357087 NA NA 0.0418041074812844 0.00676391364291296 NA 0.975715989437901 NA 0.0242840105620987 NA FALSE NA 0.249 1.472 . intron_variant MODIFIER COL16A1 HGNC 2193 ENST00000373672 36/70 1 NA AGG G,T 1.654e-05 1:31683024 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001049321 intron_variant 0.176903 0.27577 0.25219 0.053691 0.802804597188823 0.0436289 3.38473511158888e-15 FALSE 8.14186e-06 ENSE00001049321_021 ENSE00001049321 021 1 32148490 32148659 - 45 69 56 C T 32148628 1121 32 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAAACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA 31682888 31683058 31683026 31683027 31683027 upstr_intron -25 -0.428571428571429 GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAAACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA GGTTGTAGCTGGCTTCCAATTCTGCCCCTGAGACCTTTGTACCTTCTCTTACACAGGGATCTCCAGGGGTGAAAGGAGCCACCGGACCTGTGGGACCTCCTGGGGCCAGTGTCTCTGGGCCTCCGGTAAGTCTTCTCTGTGCTCCATGCTGGTGGTGTTGCTGGAACCAA mutant NA NA NA NA NA 40 30 1 0.975058539939919 0.98752926996996 NA NA 0.958195892518716 0.993236086357087 NA NA 0.0418041074812844 -0.0181775464171677 NA 0.975715989437901 NA 0.0118132805320583 NA FALSE NA 0.002 0.156 . intron_variant MODIFIER COL16A1 HGNC 2193 ENST00000373672 36/70 1 NA TCT C,T 1.654e-05 1:31683027 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001049321 intron_variant 0.284844 0.08563 0.001 0.053691 0.741607128018243 0.0436289 3.38473511158888e-15 FALSE 8.14498e-06 ENSE00001051175_000 ENSE00001051175 000 21 47630551 47630720 - 51 57 62 NA NA NA NA NA AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 NA NA NA NA NA NA AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT natural 21 53 0.978368370209654 0.888346774799253 0.933357572504454 1008 860 0.998367525297016 0.987895272428523 0.99313139886277 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 0 0 0 0 0.933357572504454 0.99313139886277 0 0 0 FALSE FALSE NA NA NA NA NA LSS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LSS NA NA NA ENSG00000160285 ENSE00001051175 NA NA NA NA NA NA NA 0.000604838176127229 FALSE NA ENSE00001051175_001 ENSE00001051175 001 21 47630551 47630720 - 51 57 62 G A 47630564 510 157 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACTTTCCTGTGCACGT 46210636 46210806 46210649 46210650 46210650 downstr_intron 38 1.76 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACTTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 116 643 1 1 1 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA 0.00163247470298378 0.0121047275714767 0.933357572504454 0.99313139886277 NA 0.00686860113723026 NA FALSE NA 0 -1.352 . intron_variant MODIFIER LSS HGNC 6708 ENST00000457828 11/20 1 NA AGG G,A 8.237e-06 21:46210650 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 intron_variant 0.065767 0.15969 0.02526 0.115753 0.688697686180481 0.121215 0.000604838176127229 FALSE 8.25716e-06 ENSE00001051175_003 ENSE00001051175 003 21 47630551 47630720 - 51 57 62 T C 47630571 512 150 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCGGCTGACCTTCCTGTGCACGT 46210636 46210806 46210656 46210657 46210657 downstr_intron 31 1.62 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCGGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 125 61 0.94699842205529 1 0.973499211027645 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.0513691032417258 0.0121047275714767 0.933357572504454 0.99313139886277 NA -0.0196321878351245 NA FALSE NA 0 -2.384 . intron_variant MODIFIER LSS HGNC 6708 ENST00000457828 11/20 1 NA CTG T,C 8.237e-06 21:46210657 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 intron_variant -0.173914 0.11421 0.05244 0.115753 0.358082165089175 0.121215 0.000604838176127229 FALSE 4.1033e-06 ENSE00001051175_004 ENSE00001051175 004 21 47630551 47630720 - 51 57 62 G A 47630572 513 149 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTTAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210657 46210658 46210658 downstr_intron 30 1.6 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTTAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 2032 209 0.994504313787236 0.984187224023717 0.989345768905477 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.00386321150977975 -0.00370804840480576 0.933357572504454 0.99313139886277 NA -0.00378562995729276 NA FALSE NA 0 1.191 . intron_variant MODIFIER LSS HGNC 6708 ENST00000457828 11/20 1 NA TGA G,A 8.237e-06 21:46210658 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 intron_variant 0.192076 0.16441 0.07534 0.115753 0.525617484623962 0.121215 0.000604838176127229 FALSE 4.1027e-06 ENSE00001051175_005 ENSE00001051175 005 21 47630551 47630720 - 51 57 62 G A 47630575 514 146 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGTCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210660 46210661 46210661 downstr_intron 27 1.54 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGTCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 161 198 1 0.903260763275457 0.951630381637728 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA 0.00163247470298378 -0.0846345091530665 0.933357572504454 0.99313139886277 NA -0.0415010172250413 NA FALSE NA 0 -0.259 rs143296660 intron_variant MODIFIER LSS HGNC 6708 ENST00000457828 11/20 rs143296660 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGC G,A 8.237e-06 21:46210661 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 intron_variant 0.212435 0.14826 0.05189 0.115753 0.67066656674293 0.121215 0.000604838176127229 FALSE 1.63826e-05 ENSE00001051175_006 ENSE00001051175 006 21 47630551 47630720 - 51 57 62 G T 47630587 515 134 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTATCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210672 46210673 46210673 downstr_intron 15 1.3 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTATCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 83 639 0.975672662967741 0.992843339576476 0.984258001272109 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.0226948623292751 0.00494806714795315 0.933357572504454 0.99313139886277 NA -0.00887339759066097 NA FALSE NA 0 -2.607 . intron_variant MODIFIER LSS HGNC 6708 ENST00000457828 11/20 rs548001980 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 AGA G,T 8.245e-06 21:46210673 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 intron_variant -0.043063 0.1413 0.04878 0.115753 0.576293575720719 0.121215 0.000604838176127229 FALSE 4.08017e-06 ENSE00001051175_007 ENSE00001051175 007 21 47630551 47630720 - 51 57 62 C T 47630595 516 126 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTAGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210680 46210681 46210681 downstr_intron 7 1.14 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTAGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 805 116 0.99594292559198 1 0.99797146279599 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.00242459970503572 0.0121047275714767 0.933357572504454 0.99313139886277 NA 0.00484006393322051 NA FALSE NA 0.012 0.347 . splice_region_variant&intron_variant LOW LSS HGNC 6708 ENST00000457828 11/20 1 NA CCA C,T 3.295e-05 21:46210681 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 splice_region_variant 0.840597 0.3824 0.03319 0.256867 0.77437272117261 0.943588 0.000604838176127229 FALSE 2.44463e-05 ENSE00001051175_009 ENSE00001051175 009 21 47630551 47630720 - 51 57 62 G A 47630598 518 123 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTTGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210683 46210684 46210684 downstr_intron 4 1.08 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTTGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 32 172 1 0.991860269301834 0.995930134650917 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA 0.00163247470298378 0.00396499687331053 0.933357572504454 0.99313139886277 NA 0.00279873578814716 NA FALSE NA 0 -1.161 . splice_region_variant&intron_variant LOW LSS HGNC 6708 ENST00000457828 11/20 1 NA CGA G,A 8.237e-06 21:46210684 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 splice_region_variant 0.474329 0.19223 0.0109 0.256867 0.75516031345159 0.212019 0.000604838176127229 FALSE 1.62931e-05 ENSE00001051175_010 ENSE00001051175 010 21 47630551 47630720 - 51 57 62 T A 47630619 519 102 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCTTCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210704 46210705 46210705 exon -18 0.701754385964912 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCTTCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 60 81 0.962576412594559 0.972445340463191 0.967510876528875 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.0357911127024574 -0.0154499319653326 0.933357572504454 0.99313139886277 NA -0.025620522333895 NA FALSE NA 0.984 0.908 rs138129293 missense_variant MODERATE LSS HGNC 6708 ENST00000457828 11/21 rs138129293 1 deleterious(0) benign(0.434) NA A:0 A:0.0001 ATG T,A 8.237e-06 21:46210705 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 missense_variant 2.970988 0.91097 0.80646 0.706548 0.941881169331057 0 0.000604838176127229 FALSE 4.06693e-06 ENSE00001051175_012 ENSE00001051175 012 21 47630551 47630720 - 51 57 62 C T 47630622 521 99 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCACCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210707 46210708 46210708 exon -21 0.649122807017544 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCACCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 390 851 0.991920176505325 0.991373125186947 0.991646650846136 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.00644734879169151 0.00347785275842327 0.933357572504454 0.99313139886277 NA -0.00148474801663412 NA FALSE NA 1 3.003 . missense_variant MODERATE LSS HGNC 6708 ENST00000457828 11/21 1 tolerated(0.14) benign(0.256) NA GCG C,T 1.647e-05 21:46210708 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 missense_variant 2.033049 0.92856 0.8752 0.706548 0.996300091134383 0 0.000604838176127229 FALSE 8.13676e-06 ENSE00001051175_017 ENSE00001051175 017 21 47630551 47630720 - 51 57 62 G A 47630632 526 89 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGATACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210717 46210718 46210718 exon 27 0.473684210526316 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGATACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 1753 204 0.950849953503995 0.934967010390558 0.942908481947276 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.047517571793021 -0.0529282620379657 0.933357572504454 0.99313139886277 NA -0.0502229169154934 NA FALSE NA 0.997 0.27 rs148314455 synonymous_variant LOW LSS HGNC 6708 ENST00000457828 11/21 rs148314455 1 A:0.0022 A:0.0083 A:0 NA A:0 A:0 A:0 A:0.0048 A:0 TGT G,A 0.0005354 21:46210718 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 synonymous_variant 0.732189 0.89392 0.72059 0.706548 0.778136970382229 0 0.000604838176127229 FALSE 0.000374175 ENSE00001051175_019 ENSE00001051175 019 21 47630551 47630720 - 51 57 62 C A 47630636 528 85 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTTGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210721 46210722 46210722 exon 23 0.403508771929825 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTTGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 302 59 0.983087064259452 0.975431659182127 0.979259361720789 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.0152804610375642 -0.0124636132463966 0.933357572504454 0.99313139886277 NA -0.0138720371419804 NA FALSE NA 1 7.383 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:46210722 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 missense_variant 7.675555 0.97261 0.96674 0.706548 0.988512656551396 0 0.000604838176127229 FALSE 2.03368e-05 ENSE00001051175_020 ENSE00001051175 020 21 47630551 47630720 - 51 57 62 C T 47630636 529 85 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTAGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210721 46210722 46210722 exon 23 0.403508771929825 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTAGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 76 50 1 0.8 0.9 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA 0.00163247470298378 -0.187895272428523 0.933357572504454 0.99313139886277 NA -0.0931313988627697 NA FALSE NA 1 7.383 NA NA NA LSS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LSS NA NA NA ENSG00000160285 ENSE00001051175 stop_gained 13.701596 0.97173 0.96253 0.706548 0.996059762040844 0 0.000604838176127229 FALSE NA ENSE00001051175_022 ENSE00001051175 022 21 47630551 47630720 - 51 57 62 G A 47630650 531 71 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAATGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210735 46210736 46210736 exon 9 0.157894736842105 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAATGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 297 2456 0.953380813982625 0.892149762592812 0.922765288287719 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.0449867113143908 -0.095745509835711 0.933357572504454 0.99313139886277 NA -0.0703661105750509 NA FALSE NA 0.828 0.054 . synonymous_variant LOW LSS HGNC 6708 ENST00000457828 11/21 1 NA CGT G,A 8.237e-06 21:46210736 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 synonymous_variant 1.319435 0.59244 0.15986 0.706548 0.875523090387671 0 0.000604838176127229 FALSE 1.62855e-05 ENSE00001051175_023 ENSE00001051175 023 21 47630551 47630720 - 51 57 62 T C 47630651 532 70 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAGCGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210736 46210737 46210737 exon 8 0.140350877192982 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAGCGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 237 697 0.96908281104619 0.997278873476582 0.983180842261386 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.0292847142508261 0.00938360104805913 0.933357572504454 0.99313139886277 NA -0.0099505566013835 NA FALSE NA 1 7.437 . missense_variant MODERATE LSS HGNC 6708 ENST00000457828 11/21 1 deleterious(0.01) probably_damaging(0.928) NA GTT T,C 8.237e-06 21:46210737 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 missense_variant 5.540704 0.96322 0.97644 0.706548 0.998435151074715 0 0.000604838176127229 FALSE 4.0708e-06 ENSE00001051175_024 ENSE00001051175 024 21 47630551 47630720 - 51 57 62 C A 47630662 533 59 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTTTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210747 46210748 46210748 upstr_intron -4 -0.0483870967741935 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTTTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 1534 479 0.998406337513368 1 0.999203168756684 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA 3.88122163520466e-05 0.0121047275714767 0.933357572504454 0.99313139886277 NA 0.00607176989391439 NA FALSE NA 0 -2.099 . splice_region_variant&intron_variant LOW LSS HGNC 6708 ENST00000457828 10/20 1 NA ACA C,A 8.237e-06 21:46210748 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 splice_region_variant 0.312961 0.17943 0.06752 0.115753 0.769170584796241 0.225621 0.000604838176127229 FALSE 4.07608e-06 ENSE00001051175_025 ENSE00001051175 025 21 47630551 47630720 - 51 57 62 A G 47630680 534 41 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGCAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210765 46210766 46210766 upstr_intron -22 -0.338709677419355 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGCAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 34 144 0 0 0 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.998367525297016 -0.987895272428523 0.933357572504454 0.99313139886277 NA -0.99313139886277 NA TRUE NA 0 0.642 . intron_variant MODIFIER LSS HGNC 6708 ENST00000457828 10/20 rs369110483 1 NA G:0.0002 G:0 TAC A,G 1.648e-05 21:46210766 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 intron_variant -0.021485 0.13216 0.03277 0.156188 0.659197417084274 0.113778 0.000604838176127229 FALSE 2.46255e-05 ENSE00001051175_027 ENSE00001051175 027 21 47630551 47630720 - 51 57 62 G C 47630686 536 35 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGGTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210771 46210772 46210772 upstr_intron -28 -0.435483870967742 AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGGTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 305 834 0.0131279047970011 0 0.00656395239850057 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA -0.985239620500015 -0.987895272428523 0.933357572504454 0.99313139886277 NA -0.986567446464269 NA TRUE NA 0 -0.024 . intron_variant MODIFIER LSS HGNC 6708 ENST00000457828 10/20 rs549507800 1 NA AGC G,C 6.593e-05 21:46210772 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 intron_variant -0.075093 0.27479 0.13619 0.208312 0.6193306035142 0.177448 0.000604838176127229 FALSE 4.147e-05 ENSE00001051175_028 ENSE00001051175 028 21 47630551 47630720 - 51 57 62 C T 47630696 537 25 AGGCAGTGGCTGGGAGTGGGAGGGACTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 46210781 46210782 46210782 upstr_intron -38 -0.596774193548387 AGGCAGTGGCTGGGAGTGGGAGGGACTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT mutant NA NA NA NA NA 173 341 1 1 1 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 NA NA 0.00163247470298378 0.0121047275714767 0.933357572504454 0.99313139886277 NA 0.00686860113723026 NA FALSE NA 0.009 0.183 . intron_variant MODIFIER LSS HGNC 6708 ENST00000457828 10/20 1 NA GCC C,T 8.259e-06 21:46210782 LSS HGNC Symbol protein_coding 40683 ENSG00000160285 ENSE00001051175 intron_variant 0.366527 0.2092 0.03218 0.099367 0.742747579604412 0.135339 0.000604838176127229 FALSE 8.45273e-06 ENSE00001051175_BRK ENSE00001051175 BRK 21 47630551 47630720 - 51 57 62 A,G; T,T NA NA NA AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTTTGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGCCTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT 46210636 46210806 NA NA NA NA NA NA AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTTTGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGCCTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT AGGCAGTGGCTGGGAGTGGGAGGGGCTGCATCTGCTGCTGTAACACCATCCTTTGTGTGTAGGGCACCAACGGCTCACAGATCTGGGACACCGCATTCGCCATCCAGGCTCTGCTTGAGGTTCGTGGCTCCTTCTCTTTTCTCAGCCTCAGCTGACCTTCCTGTGCACGT control 1280 180 0 0 0 NA NA NA NA NA 0.978368370209654 0.888346774799253 0.998367525297016 0.987895272428523 -0.978368370209654 -0.888346774799253 NA NA 0.933357572504454 0.99313139886277 -0.933357572504454 NA NA NA TRUE NA NA NA NA NA LSS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LSS NA NA NA ENSG00000160285 ENSE00001051175 NA NA NA NA NA NA NA 0.000604838176127229 FALSE NA ENSE00001051207_000 ENSE00001051207 000 9 136674132 136674301 - 30 99 41 NA NA NA NA NA CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCAATGTCCTCCAGGGTGCGGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 NA NA NA NA NA NA GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG natural 127 70 0.982526952142802 0.98690838741878 0.984717669780791 2091 1525 0.938538672632997 0.9889426558915 0.963740664262248 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 0 0 0 0 0.984717669780791 0.963740664262248 0 0 0 FALSE FALSE NA NA NA NA NA VAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV2 NA NA NA ENSG00000160293 ENSE00001051207 NA NA NA NA NA NA NA 0.00251877000405443 FALSE NA ENSE00001051207_005 ENSE00001051207 005 9 136674132 136674301 - 30 99 41 G T 136674154 3420 148 CATTTTCCAGTGGCCGCCATCTTCCCTCACCTTCTCAATGTCCTCCAGGGTGCGGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809031 133809032 133809032 downstr_intron 8 1.27586206896552 GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGAAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 67 29 0.980492637259319 1 0.99024631862966 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0419539646263224 0.0110573441084996 0.984717669780791 0.963740664262248 NA 0.026505654367411 NA FALSE NA 0.001 0.054 . splice_region_variant&intron_variant LOW VAV2 HGNC 12658 ENST00000371850 7/29 1 NA TGC G,T 1.647e-05 9:133809032 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 splice_region_variant -0.296881 0.19057 0.01168 0.256867 0.50026919349117 0.0532787 0.00251877000405443 FALSE 1.22388e-05 ENSE00001051207_008 ENSE00001051207 008 9 136674132 136674301 - 30 99 41 A T 136674168 3423 134 CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCTATGTCCTCCAGGGTGCGGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809045 133809046 133809046 exon -7 0.939393939393939 GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATAGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 23 35 1 0.998905195377067 0.999452597688534 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0614613273670035 0.0099625394855668 0.984717669780791 0.963740664262248 NA 0.0357119334262851 NA FALSE NA 0.003 -1.527 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 7/30 1 NA CAA A,T 8.237e-06 9:133809046 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 synonymous_variant -1.011003 0.95024 0.12797 0.706548 0.541435076782283 0 0.00251877000405443 FALSE 4.0702e-06 ENSE00001051207_009 ENSE00001051207 009 9 136674132 136674301 - 30 99 41 C T 136674174 3424 128 CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCAATGTCTTCCAGGGTGCGGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809051 133809052 133809052 exon -13 0.878787878787879 GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAAGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 19 12 0.991834383008142 1 0.995917191504071 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0532957103751454 0.0110573441084996 0.984717669780791 0.963740664262248 NA 0.0321765272418225 NA FALSE NA 1 1.172 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 7/30 1 NA CCT C,T 1.647e-05 9:133809052 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 synonymous_variant 1.363582 0.96656 0.79126 0.706548 0.700549683522043 0 0.00251877000405443 FALSE 1.21991e-05 ENSE00001051207_011 ENSE00001051207 011 9 136674132 136674301 - 30 99 41 G A 136674185 3426 117 CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCAATGTCCTCCAGGGTGCAGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809062 133809063 133809063 exon -24 0.767676767676768 GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACTGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 122 35 1 1 1 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0614613273670035 0.0110573441084996 0.984717669780791 0.963740664262248 NA 0.0362593357377515 NA FALSE NA 1 6.193 . missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 7/30 1 deleterious(0) possibly_damaging(0.832) NA CGG G,A 4.118e-05 9:133809063 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 missense_variant 6.632655 0.98171 0.97414 0.706548 0.999005393308263 0 0.00251877000405443 FALSE 2.84493e-05 ENSE00001051207_012 ENSE00001051207 012 9 136674132 136674301 - 30 99 41 G A 136674186 3427 116 CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCAATGTCCTCCAGGGTGCGATAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809063 133809064 133809064 exon -25 0.757575757575758 GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTATCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 30 163 1 0.996174685591814 0.998087342795907 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0614613273670035 0.00723202970031367 0.984717669780791 0.963740664262248 NA 0.0343466785336586 NA FALSE NA 1 7.144 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 7/30 1 NA GGT G,A 8.236e-06 9:133809064 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 synonymous_variant 0.46277 0.98811 0.98653 0.706548 0.591276101499932 0 0.00251877000405443 FALSE NA ENSE00001051207_014 ENSE00001051207 014 9 136674132 136674301 - 30 99 41 C G 136674198 3429 104 CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCAATGTCCTCCAGGGTGCGGTAGTACTTGGCGTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809075 133809076 133809076 exon -37 0.636363636363636 GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGACGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 39 26 1 1 1 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0614613273670035 0.0110573441084996 0.984717669780791 0.963740664262248 NA 0.0362593357377515 NA FALSE NA 1 0.958 . missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 7/30 1 deleterious(0) probably_damaging(0.98) NA CCT C,G 8.236e-06 9:133809076 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 missense_variant 5.795081 0.96836 0.9055 0.706548 0.998106367853311 0 0.00251877000405443 FALSE 4.06326e-06 ENSE00001051207_019 ENSE00001051207 019 9 136674132 136674301 - 30 99 41 A G 136674240 3434 62 CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCAATGTCCTCCAGGGTGCGGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCGTCTTCAGTCATGCCCATTTTCTAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809117 133809118 133809118 exon 21 0.212121212121212 GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGACGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 78 13 0.999471194690418 1 0.999735597345209 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0609325220574218 0.0110573441084996 0.984717669780791 0.963740664262248 NA 0.0359949330829607 NA FALSE NA 0.105 -0.388 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 7/30 1 NA CAT A,G 8.236e-06 9:133809118 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 synonymous_variant 0.175469 0.94594 0.11374 0.706548 0.44732033250344 0 0.00251877000405443 FALSE 4.06375e-06 ENSE00001051207_021 ENSE00001051207 021 9 136674132 136674301 - 30 99 41 A C 136674268 3436 34 CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCAATGTCCTCCAGGGTGCGGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGCGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809145 133809146 133809146 upstr_intron -8 -0.170731707317073 GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCGCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 247 112 0.989677920474168 1 0.994838960237084 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0511392478411713 0.0110573441084996 0.984717669780791 0.963740664262248 NA 0.0310982959748354 NA FALSE NA 0 -0.059 . splice_region_variant&intron_variant LOW VAV2 HGNC 12658 ENST00000371850 6/29 1 NA GAG A,C 8.236e-06 9:133809146 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 splice_region_variant 0.126936 0.22439 0.17055 0.062308 0.557891876026088 0.193657 0.00251877000405443 FALSE 4.07216e-06 ENSE00001051207_022 ENSE00001051207 022 9 136674132 136674301 - 30 99 41 A C 136674273 3437 29 CATTTTCCAGTGGCCGCCATCTGCCCTCACCTTCTCAATGTCCTCCAGGGTGCGGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTCTAGAGGAGGGACGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 133809150 133809151 133809151 upstr_intron -13 -0.292682926829268 GGGCCCATGGGGTCCTGCTGACTCCCCCGTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG mutant NA NA NA NA NA 24 211 1 1 1 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 NA NA 0.0614613273670035 0.0110573441084996 0.984717669780791 0.963740664262248 NA 0.0362593357377515 NA FALSE NA 0 -0.716 . intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 6/29 1 NA AAG A,C 8.236e-06 9:133809151 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001051207 intron_variant -0.020282 0.1278 0.0115 0.062308 0.591544082292656 0.151447 0.00251877000405443 FALSE 4.079e-06 ENSE00001051207_BRK ENSE00001051207 BRK 9 136674132 136674301 - 30 99 41 A,G; T,T NA NA NA CATTTTCCAGTGGCCGCCATCTGCCCTCGGCTTCTCAATGTCCTCCAGGGTGCGGTAGTACTTGGCCTCGGTCTCCTGGATCTCCAGCAGGCAGCAGTTCCTCTTGTCATCTTCAGTCATGCCCATTTTAAAGAGGAGGGAAGGGGGAGTCAGCAGGACCCCATGGGCCC 133809009 133809179 NA NA NA NA NA NA GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTTTAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGCCGAGGGCAGATGGCGGCCACTGGAAAATG GGGCCCATGGGGTCCTGCTGACTCCCCCTTCCCTCCTCTAGAAAATGGGCATGACTGAAGATGACAAGAGGAACTGCTGCCTGCTGGAGATCCAGGAGACCGAGGCCAAGTACTACCGCACCCTGGAGGACATTGAGAAGGTGAGGGCAGATGGCGGCCACTGGAAAATG control 67 95 0.85 0.85 0.85 33 99 1 0.969481068899905 0.984740534449952 0.982526952142802 0.98690838741878 0.938538672632997 0.9889426558915 -0.132526952142802 -0.13690838741878 0.0614613273670035 -0.0194615869915957 0.984717669780791 0.963740664262248 -0.134717669780791 0.0209998701877039 0.155717539968495 FALSE FALSE NA NA NA NA NA VAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV2 NA NA NA ENSG00000160293 ENSE00001051207 NA NA NA NA NA NA NA 0.00251877000405443 FALSE NA ENSE00001052101_000 ENSE00001052101 000 19 41201847 41202016 - 47 66 57 NA NA NA NA NA AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 NA NA NA NA NA NA AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG natural NA NA NA NA NA 1208 652 0.720101964103102 0.807566950321766 0.763834457212434 NA NA 0.720101964103102 0.807566950321766 NA NA 0 0 NA 0.763834457212434 NA 0 NA FALSE NA NA NA NA NA NA ADCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COQ8B NA NA NA ENSG00000123815 ENSE00003659328 NA NA NA NA NA NA NA NA NA NA ENSE00001052101_003 ENSE00001052101 003 19 41201847 41202016 - 47 66 57 C G 41201870 2460 147 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGCCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40695964 40695965 40695965 downstr_intron 24 1.52173913043478 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGCCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 13 91 1 1 1 NA NA 0.720101964103102 0.807566950321766 NA NA 0.279898035896898 0.192433049678234 NA 0.763834457212434 NA 0.236165542787566 NA FALSE NA 0.22 0.143 . downstream_gene_variant MODIFIER ADCK4 HGNC 19041 ENST00000595254 1 NA GCC C,G 8.236e-06 19:40695965 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 intron_variant 0.254407 0.27426 0.12353 0.099367 0.491218287469697 0.0485999 NA NA 4.06283e-06 ENSE00001052101_008 ENSE00001052101 008 19 41201847 41202016 - 47 66 57 C T 41201894 2465 123 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAAGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40695988 40695989 40695989 exon -1 1 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAAGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 547 246 0 0.00261192480672469 0.00130596240336235 NA NA 0.720101964103102 0.807566950321766 NA NA -0.720101964103102 -0.804955025515042 NA 0.763834457212434 NA -0.762528494809072 NA TRUE NA 1 7.293 rs148712761 downstream_gene_variant MODIFIER ADCK4 HGNC 19041 ENST00000595254 rs148712761 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.002 T:0 CCT C,T 0.0002141 19:40695989 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 splice_region_variant 2.216314 0.9934 0.98655 0.706548 0.942579714855014 0 NA NA 0.000134006 ENSE00001052101_010 ENSE00001052101 010 19 41201847 41202016 - 47 66 57 T C 41201904 2467 113 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCGTTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40695998 40695999 40695999 exon -11 0.848484848484849 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCGTTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 854 161 0.995449653722037 1 0.997724826861018 NA NA 0.720101964103102 0.807566950321766 NA NA 0.275347689618934 0.192433049678234 NA 0.763834457212434 NA 0.233890369648584 NA FALSE NA 1 1.859 . downstream_gene_variant MODIFIER ADCK4 HGNC 19041 ENST00000595254 1 NA ATG T,C 2.471e-05 19:40695999 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 missense_variant 1.734446 0.9805 0.9151 0.706548 0.905351976873615 0 NA NA 3.24855e-05 ENSE00001052101_011 ENSE00001052101 011 19 41201847 41202016 - 47 66 57 A G 41201914 2468 103 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGCTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40696008 40696009 40696009 exon -21 0.696969696969697 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGCTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 217 435 0.996522899713797 0.998576529982136 0.997549714847967 NA NA 0.720101964103102 0.807566950321766 NA NA 0.276420935610695 0.191009579660369 NA 0.763834457212434 NA 0.233715257635532 NA FALSE NA 1 8.697 NA NA NA ADCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:40696009 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 missense_variant 6.59835 0.99162 0.99141 0.706548 0.998912280451951 0 NA NA 4.06062e-06 ENSE00001052101_014 ENSE00001052101 014 19 41201847 41202016 - 47 66 57 C T 41201921 2471 96 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGAACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40696015 40696016 40696016 exon -28 0.590909090909091 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGAACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 785 326 0.995230210601861 1 0.99761510530093 NA NA 0.720101964103102 0.807566950321766 NA NA 0.275128246498758 0.192433049678234 NA 0.763834457212434 NA 0.233780648088496 NA FALSE NA 0.001 -1.567 . downstream_gene_variant MODIFIER ADCK4 HGNC 19041 ENST00000595254 1 NA TCC C,T 2.471e-05 19:40696016 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 synonymous_variant 1.979446 0.75978 0.06105 0.706548 0.674176184276068 0 NA NA 2.43633e-05 ENSE00001052101_018 ENSE00001052101 018 19 41201847 41202016 - 47 66 57 C G 41201940 2475 77 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGCTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40696034 40696035 40696035 exon 20 0.303030303030303 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGCTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 1637 414 0.99962229616058 0.865769544898342 0.932695920529461 NA NA 0.720101964103102 0.807566950321766 NA NA 0.279520332057478 0.0582025945765755 NA 0.763834457212434 NA 0.168861463317027 NA FALSE NA 1 7.293 . downstream_gene_variant MODIFIER ADCK4 HGNC 19041 ENST00000595254 COSM1393867&COSM1393868 1 NA ACC C,G 2.471e-05 19:40696035 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 missense_variant 6.408049 0.99359 0.98923 0.706548 0.997831444212048 0 NA NA 1.62423e-05 ENSE00001052101_019 ENSE00001052101 019 19 41201847 41202016 - 47 66 57 A G 41201942 2476 75 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTCGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40696036 40696037 40696037 exon 18 0.272727272727273 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTCGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 565 39 0.997719898992524 1 0.998859949496262 NA NA 0.720101964103102 0.807566950321766 NA NA 0.277617934889421 0.192433049678234 NA 0.763834457212434 NA 0.235025492283827 NA FALSE NA 0.005 -0.129 . downstream_gene_variant MODIFIER ADCK4 HGNC 19041 ENST00000595254 1 NA CAA A,G 8.236e-06 19:40696037 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 synonymous_variant 0.961267 0.95509 0.29524 0.706548 0.713531594469529 0 NA NA 4.06058e-06 ENSE00001052101_020 ENSE00001052101 020 19 41201847 41202016 - 47 66 57 C A 41201957 2477 60 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTTACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40696051 40696052 40696052 exon 3 0.0454545454545455 AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTTACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 203 913 0.994672999349833 1 0.997336499674917 NA NA 0.720101964103102 0.807566950321766 NA NA 0.274571035246731 0.192433049678234 NA 0.763834457212434 NA 0.233502042462482 NA FALSE NA 0.882 0.244 . downstream_gene_variant MODIFIER ADCK4 HGNC 19041 ENST00000595254 1 NA TCA C,A 8.236e-06 19:40696052 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 splice_region_variant 1.998566 0.96925 0.75368 0.706548 0.867121899151604 0 NA NA NA ENSE00001052101_022 ENSE00001052101 022 19 41201847 41202016 - 47 66 57 T C 41201986 2479 31 AGACAGTGAGGGTGTGAATGGGATCCCAGCGTTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 40696080 40696081 40696081 upstr_intron -27 -0.456140350877193 AGACAGTGAGGGTGTGAATGGGATCCCAGCGTTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG mutant NA NA NA NA NA 251 197 1 0.997248763438318 0.998624381719159 NA NA 0.720101964103102 0.807566950321766 NA NA 0.279898035896898 0.189681813116551 NA 0.763834457212434 NA 0.234789924506724 NA FALSE NA 0 -2.406 . downstream_gene_variant MODIFIER ADCK4 HGNC 19041 ENST00000595254 1 NA ATG T,C 1.647e-05 19:40696081 COQ8B HGNC Symbol protein_coding 26678 ENSG00000123815 ENSE00003659328 intron_variant 1.954132 0.16805 0.01314 0.099367 0.907814010352783 0.140279 NA NA 2.03112e-05 ENSE00001052101_BRK ENSE00001052101 BRK 19 41201847 41202016 - 47 66 57 A,G; T,T NA NA NA AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCTTGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGCCGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG 40695941 40696111 NA NA NA NA NA NA AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCTTGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGCCGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG AGACAGTGAGGGTGTGAATGGGATCCCAGCATTCCTTTCACCATTCCTTGCTTCCAGGTGACCCTGCTGGACTTTGGTGCAAGCCGGGAGTTTGGGACAGAGTTCACAGACCATTACATCGAGGTGAGTCTCCCCCAGACCCCAGGGCCTCTGAAAGGCTGAGGCTCAAG control 29 40 0 0 0 NA NA NA NA NA NA NA 0.720101964103102 0.807566950321766 NA NA NA NA NA 0.763834457212434 NA NA NA NA NA NA NA NA NA NA ADCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COQ8B NA NA NA ENSG00000123815 ENSE00003659328 NA NA NA NA NA NA NA NA NA NA ENSE00001052430_000 ENSE00001052430 000 9 131484247 131484416 - 41 78 51 NA NA NA NA NA TTTGGCCCAACCTCTCCCACGGGTGTCCGTGCATCACTCACCAGCACCAGGCAGTATCTGCAGCGCCGAAGAGGGATGGCTGGAGGAACCATGGCTGTCTGCTCCTCTTTGAGCTCCTCCTGGAATGAGGGGTGGGGTGTAAGACAGGGTCCCCTTGGGAGACAGATGGC 128721967 128722137 NA NA NA NA NA NA GCCATCTGTCTCCCAAGGGGACCCTGTCTTACACCCCACCCCTCATTCCAGGAGGAGCTCAAAGAGGAGCAGACAGCCATGGTTCCTCCAGCCATCCCTCTTCGGCGCTGCAGATACTGCCTGGTGCTGGTGAGTGATGCACGGACACCCGTGGGAGAGGTTGGGCCAAA GCCATCTGTCTCCCAAGGGGACCCTGTCTTACACCCCACCCCTCATTCCAGGAGGAGCTCAAAGAGGAGCAGACAGCCATGGTTCCTCCAGCCATCCCTCTTCGGCGCTGCAGATACTGCCTGGTGCTGGTGAGTGATGCACGGACACCCGTGGGAGAGGTTGGGCCAAA natural 22 23 0.999193815245069 0.998943175953349 0.999068495599209 29 52 0.988064827668692 0.959172265736214 0.973618546702453 0.999193815245069 0.998943175953349 0.988064827668692 0.959172265736214 0 0 0 0 0.999068495599209 0.973618546702453 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003624120 NA NA NA NA NA NA NA NA NA NA ENSE00001052430_BRK ENSE00001052430 BRK 9 131484247 131484416 - 41 78 51 A,G; T,T NA NA NA TTTGGCCCAACCTCTCCCACGGGTGTCCGTGCATCACTCGGCAGCACCAGGCAGTATCTGCAGCGCCGAAGAGGGATGGCTGGAGGAACCATGGCTGTCTGCTCCTCTTTGAGCTCCTCAAGGAATGAGGGGTGGGGTGTAAGACAGGGTCCCCTTGGGAGACAGATGGC 128721967 128722137 NA NA NA NA NA NA GCCATCTGTCTCCCAAGGGGACCCTGTCTTACACCCCACCCCTCATTCCTTGAGGAGCTCAAAGAGGAGCAGACAGCCATGGTTCCTCCAGCCATCCCTCTTCGGCGCTGCAGATACTGCCTGGTGCTGCCGAGTGATGCACGGACACCCGTGGGAGAGGTTGGGCCAAA GCCATCTGTCTCCCAAGGGGACCCTGTCTTACACCCCACCCCTCATTCCAGGAGGAGCTCAAAGAGGAGCAGACAGCCATGGTTCCTCCAGCCATCCCTCTTCGGCGCTGCAGATACTGCCTGGTGCTGGTGAGTGATGCACGGACACCCGTGGGAGAGGTTGGGCCAAA control 33 73 0 0 0 NA NA NA NA NA 0.999193815245069 0.998943175953349 0.988064827668692 0.959172265736214 -0.999193815245069 -0.998943175953349 NA NA 0.999068495599209 0.973618546702453 -0.999068495599209 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003624120 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001053261_000 ENSE00001053261 000 11 117246376 117246545 + 48 84 38 NA NA NA NA NA TGACTGTGACAGAGGCAGAGTTGACCTTTGCATCTCCACTGTCTCCAGGACTTCGGTTTTCGCAGCCGGATCTCGGAGCACCTGCTGGATGTTGATGTGCTTTCCCCAGTCCTGGGTGGAGCTTGTCGGCAGGTGAGTTTCTGTGGGTGGTGGGCTGAGCTGGGGCCTCA 117375659 117375829 NA NA NA NA NA NA TGACTGTGACAGAGGCAGAGTTGACCTTTGCATCTCCACTGTCTCCAGGACTTCGGTTTTCGCAGCCGGATCTCGGAGCACCTGCTGGATGTTGATGTGCTTTCCCCAGTCCTGGGTGGAGCTTGTCGGCAGGTGAGTTTCTGTGGGTGGTGGGCTGAGCTGGGGCCTCA TGACTGTGACAGAGGCAGAGTTGACCTTTGCATCTCCACTGTCTCCAGGACTTCGGTTTTCGCAGCCGGATCTCGGAGCACCTGCTGGATGTTGATGTGCTTTCCCCAGTCCTGGGTGGAGCTTGTCGGCAGGTGAGTTTCTGTGGGTGGTGGGCTGAGCTGGGGCCTCA natural 28 26 0.998661155878315 1 0.999330577939157 605 865 0.98465734427402 0.797501369805557 0.891079357039788 0.998661155878315 1 0.98465734427402 0.797501369805557 0 0 0 0 0.999330577939157 0.891079357039788 0 0 0 FALSE FALSE NA NA NA NA NA CEP164 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP164 NA NA NA ENSG00000110274 ENSE00003554541 NA NA NA NA NA NA NA 9.66879225304467e-18 FALSE NA ENSE00001053261_009 ENSE00001053261 009 11 117246376 117246545 + 48 84 38 G A 117246437 2750 62 TGACTGTGACAGAGGCAGAGTTGACCTTTGCATCTCCACTGTCTCCAGGACTTCGGTTTTCACAGCCGGATCTCGGAGCACCTGCTGGATGTTGATGTGCTTTCCCCAGTCCTGGGTGGAGCTTGTCGGCAGGTGAGTTTCTGTGGGTGGTGGGCTGAGCTGGGGCCTCA 117375659 117375829 117375720 117375721 117375721 exon 14 0.166666666666667 TGACTGTGACAGAGGCAGAGTTGACCTTTGCATCTCCACTGTCTCCAGGACTTCGGTTTTCACAGCCGGATCTCGGAGCACCTGCTGGATGTTGATGTGCTTTCCCCAGTCCTGGGTGGAGCTTGTCGGCAGGTGAGTTTCTGTGGGTGGTGGGCTGAGCTGGGGCCTCA TGACTGTGACAGAGGCAGAGTTGACCTTTGCATCTCCACTGTCTCCAGGACTTCGGTTTTCGCAGCCGGATCTCGGAGCACCTGCTGGATGTTGATGTGCTTTCCCCAGTCCTGGGTGGAGCTTGTCGGCAGGTGAGTTTCTGTGGGTGGTGGGCTGAGCTGGGGCCTCA mutant NA NA NA NA NA 59 62 0.8 0.847830008495366 0.823915004247683 0.998661155878315 1 0.98465734427402 0.797501369805557 NA NA -0.18465734427402 0.050328638689809 0.999330577939157 0.891079357039788 NA -0.0671643527921056 NA FALSE NA 0.495 0.059 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CEP164 HGNC 29182 ENST00000533675 7/27 1 NA CGC G,A 8.236e-06 11:117375721 CEP164 HGNC Symbol protein_coding 98711 ENSG00000110274 ENSE00003554541 missense_variant 2.400898 0.94409 0.15339 0.706548 0.97667502889838 0 9.66879225304467e-18 FALSE 4.06062e-06 ENSE00001056160_000 ENSE00001056160 000 7 103003749 103003918 + 42 96 32 NA NA NA NA NA AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 NA NA NA NA NA NA AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT natural 111 79 0.985370247472479 0.992502555189545 0.988936401331012 12669 12771 0.982177701011301 0.955876490498321 0.969027095754811 0.985370247472479 0.992502555189545 0.982177701011301 0.955876490498321 0 0 0 0 0.988936401331012 0.969027095754811 0 0 0 FALSE FALSE NA NA NA NA NA SLC26A5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC26A5 NA NA NA ENSG00000170615 ENSE00001056160 NA NA NA NA NA NA NA 0.00137555507026871 FALSE NA ENSE00001056160_BRK ENSE00001056160 BRK 7 103003749 103003918 + 42 96 32 A,G; T,T NA NA NA AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTTTGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATCCAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 NA NA NA NA NA NA AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTTTGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATCCAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT control 257 90 0 0 0 1037 1209 0 0.00265751964688492 0.00132875982344246 0.985370247472479 0.992502555189545 0.982177701011301 0.955876490498321 -0.985370247472479 -0.992502555189545 -0.982177701011301 -0.953218970851436 0.988936401331012 0.969027095754811 -0.988936401331012 -0.967698335931369 0.0212380653996433 TRUE TRUE NA NA NA NA NA SLC26A5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC26A5 NA NA NA ENSG00000170615 ENSE00001056160 NA NA NA NA NA NA NA 0.00137555507026871 FALSE NA ENSE00001057677_000 ENSE00001057677 000 11 3023721 3023890 - 50 60 60 NA NA NA NA NA GGGTGCACTCCTGCCCAGTAGAGCCCTCACCCCCAAACAAAATGCATTACTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTCTTCCTCTTCTCCTCTTCAACCTGGAGGGTCAATACAGAGCCAGATGAGACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 NA NA NA NA NA NA CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC natural 279 472 0.819957270076326 0.639374652321277 0.729665961198802 460 1081 0.853243294269775 0.805234445288359 0.829238869779067 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 0 0 0 0 0.729665961198802 0.829238869779067 0 0 0 FALSE FALSE NA NA NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS NA NA NA ENSG00000110619 ENSE00003628877 NA NA NA NA NA NA NA 2.96288607598974e-06 FALSE NA ENSE00001057677_001 ENSE00001057677 001 11 3023721 3023890 - 50 60 60 A G 3023737 113 154 GGGTGCACTCCTGCCCGGTAGAGCCCTCACCCCCAAACAAAATGCATTACTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTCTTCCTCTTCTCCTCTTCAACCTGGAGGGTCAATACAGAGCCAGATGAGACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 3002506 3002507 3002507 downstr_intron 34 1.69387755102041 CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACCGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC mutant 12 14 0.85 0.85 0.85 NA NA NA NA NA 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 0.0300427299236742 0.210625347678723 NA NA 0.729665961198802 0.829238869779067 0.120334038801198 NA NA NA FALSE 0 -0.828 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 20/21 1 NA CAG A,G 8.237e-06 11:3002507 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003628877 non_coding_transcript_exon_variant 0.11082 0.13937 0.05575 0.295142 0.588999275186559 0.0760577 2.96288607598974e-06 FALSE 1.22442e-05 ENSE00001057677_004 ENSE00001057677 004 11 3023721 3023890 - 50 60 60 C T 3023750 116 141 GGGTGCACTCCTGCCCAGTAGAGCCCTCATCCCCAAACAAAATGCATTACTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTCTTCCTCTTCTCCTCTTCAACCTGGAGGGTCAATACAGAGCCAGATGAGACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 3002519 3002520 3002520 downstr_intron 21 1.42857142857143 CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGATGAGGGCTCTACTGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC mutant 43 21 0.755294984283314 0.558139326445544 0.656717155364429 NA NA NA NA NA 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 -0.0646622857930114 -0.0812353258757332 NA NA 0.729665961198802 0.829238869779067 -0.0729488058343723 NA NA NA FALSE 0 -0.691 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 20/21 1 NA ACC C,T 8.237e-06 11:3002520 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003628877 non_coding_transcript_exon_variant 0.000918 0.14564 0.06279 0.295142 0.543514828375603 0.0760577 2.96288607598974e-06 FALSE 4.06749e-06 ENSE00001057677_015 ENSE00001057677 015 11 3023721 3023890 - 50 60 60 C T 3023810 127 81 GGGTGCACTCCTGCCCAGTAGAGCCCTCACCCCCAAACAAAATGCATTACTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTTTTCCTCTTCTCCTCTTCAACCTGGAGGGTCAATACAGAGCCAGATGAGACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 3002579 3002580 3002580 exon 21 0.35 CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAAAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC mutant 198 200 0.00663875396478093 0.0362293017441114 0.0214340278544462 NA NA NA NA NA 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 -0.813318516111545 -0.603145350577166 NA NA 0.729665961198802 0.829238869779067 -0.708231933344355 NA NA NA TRUE 0.99 2.272 . synonymous_variant LOW CARS HGNC 1493 ENST00000278224 20/22 1 NA TCT C,T 8.236e-06 11:3002580 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003628877 synonymous_variant 1.288993 0.93387 0.7458 0.706548 0.491006542412499 0 2.96288607598974e-06 FALSE 4.06075e-06 ENSE00001057677_017 ENSE00001057677 017 11 3023721 3023890 - 50 60 60 C T 3023822 129 69 GGGTGCACTCCTGCCCAGTAGAGCCCTCACCCCCAAACAAAATGCATTACTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTCTTCCTCTTCTCTTCTTCAACCTGGAGGGTCAATACAGAGCCAGATGAGACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 3002591 3002592 3002592 exon 9 0.15 CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAAGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC mutant NA NA NA NA NA 84 66 0.903649336457414 0.903326758596093 0.903488047526754 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 NA NA 0.0504060421876393 0.0980923133077345 0.729665961198802 0.829238869779067 NA 0.0742491777476869 NA FALSE NA 0.733 -1.79 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3002592 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003628877 synonymous_variant 1.257269 0.71665 0.04195 0.706548 0.424927607105215 0 2.96288607598974e-06 FALSE 4.06114e-06 ENSE00001057677_018 ENSE00001057677 018 11 3023721 3023890 - 50 60 60 C G 3023822 130 69 GGGTGCACTCCTGCCCAGTAGAGCCCTCACCCCCAAACAAAATGCATTACTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTCTTCCTCTTCTCGTCTTCAACCTGGAGGGTCAATACAGAGCCAGATGAGACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 3002591 3002592 3002592 exon 9 0.15 CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGACGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC mutant 26 14 0.85 0.85 0.85 121 128 0.958756934218407 0.963065846122946 0.960911390170676 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 0.0300427299236742 0.210625347678723 0.105513639948632 0.157831400834587 0.729665961198802 0.829238869779067 0.120334038801198 0.131672520391609 0.011338481590411 FALSE FALSE 0.733 -1.79 NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS NA NA NA ENSG00000110619 ENSE00003628877 missense_variant 0.858147 0.73728 0.0983 0.706548 0.957287614785193 0 2.96288607598974e-06 FALSE 1.21834e-05 ENSE00001057677_023 ENSE00001057677 023 11 3023721 3023890 - 50 60 60 G A 3023853 135 38 GGGTGCACTCCTGCCCAGTAGAGCCCTCACCCCCAAACAAAATGCATTACTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTCTTCCTCTTCTCCTCTTCAACCTGGAGGGTCAATACAGAGCCAAATGAGACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 3002622 3002623 3002623 upstr_intron -23 -0.366666666666667 CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATTTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC mutant 16 18 0.85 0.85 0.85 NA NA NA NA NA 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 0.0300427299236741 0.210625347678723 NA NA 0.729665961198802 0.829238869779067 0.120334038801198 NA NA NA FALSE 0 -1.542 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 19/21 rs201148286 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGA G,A 4.942e-05 11:3002623 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003628877 intron_variant -0.110637 0.11876 0.00868 0.069865 0.700444000305488 0.0733131 2.96288607598974e-06 FALSE 5.28804e-05 ENSE00001057677_025 ENSE00001057677 025 11 3023721 3023890 - 50 60 60 G T 3023858 137 33 GGGTGCACTCCTGCCCAGTAGAGCCCTCACCCCCAAACAAAATGCATTACTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTCTTCCTCTTCTCCTCTTCAACCTGGAGGGTCAATACAGAGCCAGATGATACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 3002627 3002628 3002628 upstr_intron -28 -0.45 CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTATCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC mutant 64 67 0.172037983090685 0.231354929948723 0.201696456519704 NA NA NA NA NA 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 -0.647919286985641 -0.408019722372554 NA NA 0.729665961198802 0.829238869779067 -0.527969504679097 NA NA NA TRUE 0.03 0.062 NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3002628 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003628877 intron_variant 0.275609 0.19961 0.06754 0.069865 0.861295331983096 0.0733131 2.96288607598974e-06 FALSE 4.07093e-06 ENSE00001057677_BRK ENSE00001057677 BRK 11 3023721 3023890 - 50 60 60 A,G; T,T NA NA NA GGGTGCACTCCTGCCCAGTAGAGCCCTCACCCCCAAACAAAATGCATTGGTTCTTGTTCCTGTTTCCTCCGGGCCGCCTCCTCTTTCTTCTTCCTCTTCTCCTCTTCAACAAGGAGGGTCAATACAGAGCCAGATGAGACAGGGCTGCCTCAGGCTGCTGGGTCTCTCGG 3002490 3002660 NA NA NA NA NA NA CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCTTGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAACCAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC CCGAGAGACCCAGCAGCCTGAGGCAGCCCTGTCTCATCTGGCTCTGTATTGACCCTCCAGGTTGAAGAGGAGAAGAGGAAGAAGAAAGAGGAGGCGGCCCGGAGGAAACAGGAACAAGAAGTAATGCATTTTGTTTGGGGGTGAGGGCTCTACTGGGCAGGAGTGCACCC control 30 104 0 0 0 NA NA NA NA NA 0.819957270076326 0.639374652321277 0.853243294269775 0.805234445288359 -0.819957270076326 -0.639374652321277 NA NA 0.729665961198802 0.829238869779067 -0.729665961198802 NA NA NA TRUE NA NA NA NA NA CARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARS NA NA NA ENSG00000110619 ENSE00003628877 NA NA NA NA NA NA NA 2.96288607598974e-06 FALSE NA ENSE00001059696_000 ENSE00001059696 000 19 51207653 51207822 - 41 78 51 NA NA NA NA NA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 NA NA NA NA NA NA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA natural NA NA NA NA NA 1984 3313 0.764513862788864 0.887855320452461 0.826184591620662 NA NA 0.764513862788864 0.887855320452461 NA NA 0 0 NA 0.826184591620662 NA 0 NA FALSE NA NA NA NA NA NA SHANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SHANK1 NA NA NA ENSG00000161681 ENSE00001059696 NA NA NA NA NA NA NA 0.999999760947139 TRUE NA ENSE00001059696_002 ENSE00001059696 002 19 51207653 51207822 - 41 78 51 A G 51207684 3104 139 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCCGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704426 50704427 50704427 downstr_intron 10 1.25 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCCGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 829 160 1 0.999010258287253 0.999505129143627 NA NA 0.764513862788864 0.887855320452461 NA NA 0.235486137211136 0.111154937834793 NA 0.826184591620662 NA 0.173320537522964 NA FALSE NA 0 1.246 . intron_variant MODIFIER SHANK1 HGNC 15474 ENST00000391814 9/24 1 NA CAG A,G 8.236e-06 19:50704427 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 intron_variant 0.151833 0.15247 0.1471 0.095506 0.566437085265358 0.0764693 0.999999760947139 TRUE 4.06283e-06 ENSE00001059696_004 ENSE00001059696 004 19 51207653 51207822 - 41 78 51 G C 51207702 3106 121 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCGCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704444 50704445 50704445 exon -9 0.897435897435897 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCGCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 960 95 0.999785462452183 0.922104089319543 0.960944775885863 NA NA 0.764513862788864 0.887855320452461 NA NA 0.235271599663319 0.0342487688670827 NA 0.826184591620662 NA 0.134760184265201 NA FALSE NA 0.654 1.042 rs146764436 missense_variant MODERATE SHANK1 HGNC 15474 ENST00000391814 9/25 rs146764436 1 benign(0.103) NA GGG G,C 3.295e-05 19:50704445 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 missense_variant 1.507224 0.84939 0.73822 0.658043 0.859512701502989 0 0.999999760947139 TRUE 3.65577e-05 ENSE00001059696_008 ENSE00001059696 008 19 51207653 51207822 - 41 78 51 G A 51207712 3110 111 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAATGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704454 50704455 50704455 exon -19 0.769230769230769 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAATGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 161 100 0.98506404683387 0.999235213372237 0.992149630103053 NA NA 0.764513862788864 0.887855320452461 NA NA 0.220550184045005 0.111379892919776 NA 0.826184591620662 NA 0.165965038482391 NA FALSE NA 0 -1.892 . synonymous_variant LOW SHANK1 HGNC 15474 ENST00000391814 9/25 COSM3835464 1 NA CGT G,A 4.942e-05 19:50704455 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 synonymous_variant 1.234051 0.39501 0.10372 0.658043 0.911210717120162 0 0.999999760947139 TRUE 3.65562e-05 ENSE00001059696_010 ENSE00001059696 010 19 51207653 51207822 - 41 78 51 C T 51207735 3112 88 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCAACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704477 50704478 50704478 exon 37 0.474358974358974 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCAACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 2332 400 0.990190738987592 0.987845489056145 0.989018114021869 NA NA 0.764513862788864 0.887855320452461 NA NA 0.225676876198728 0.0999901686036848 NA 0.826184591620662 NA 0.162833522401206 NA FALSE NA 0.948 3.753 . missense_variant MODERATE SHANK1 HGNC 15474 ENST00000391814 9/25 COSM1681253 1 benign(0.014) NA TCG C,T 4.118e-05 19:50704478 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 missense_variant 1.745383 0.86547 0.16867 0.696267 0.957596783025713 0 0.999999760947139 TRUE 3.24965e-05 ENSE00001059696_011 ENSE00001059696 011 19 51207653 51207822 - 41 78 51 G A 51207736 3113 87 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCTGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704478 50704479 50704479 exon 36 0.461538461538462 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCTGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 14 73 1 0.973252343786205 0.986626171893103 NA NA 0.764513862788864 0.887855320452461 NA NA 0.235486137211136 0.0853970233337448 NA 0.826184591620662 NA 0.16044158027244 NA FALSE NA 0.709 -0.312 . synonymous_variant LOW SHANK1 HGNC 15474 ENST00000391814 9/25 1 NA CGG G,A 3.295e-05 19:50704479 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 synonymous_variant 2.069272 0.86177 0.46157 0.696267 0.842450069769832 0 0.999999760947139 TRUE 2.03105e-05 ENSE00001059696_014 ENSE00001059696 014 19 51207653 51207822 - 41 78 51 G C 51207766 3116 57 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACGTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704508 50704509 50704509 exon 6 0.0769230769230769 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACGTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 26 100 1 1 1 NA NA 0.764513862788864 0.887855320452461 NA NA 0.235486137211136 0.112144679547539 NA 0.826184591620662 NA 0.173815408379338 NA FALSE NA 1 1.864 rs140226345 synonymous_variant LOW SHANK1 HGNC 15474 ENST00000391814 9/25 rs140226345 1 NA C:0 C:0.0001 AGG G,C 3.295e-05 19:50704509 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 synonymous_variant 0.667265 0.90836 0.82199 0.696267 0.760571998560478 0 0.999999760947139 TRUE 6.50311e-05 ENSE00001059696_016 ENSE00001059696 016 19 51207653 51207822 - 41 78 51 G A 51207776 3118 47 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCTGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704518 50704519 50704519 upstr_intron -5 -0.0784313725490196 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCTGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 76 296 1 0.995369266031842 0.997684633015921 NA NA 0.764513862788864 0.887855320452461 NA NA 0.235486137211136 0.107513945579382 NA 0.826184591620662 NA 0.171500041395259 NA FALSE NA 0 -0.8 . splice_region_variant&intron_variant LOW SHANK1 HGNC 15474 ENST00000391814 8/24 1 NA CGG G,A 5.765e-05 19:50704519 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 splice_region_variant 0.403048 0.21709 0.07429 0.095506 0.760087158950353 0.148183 0.999999760947139 TRUE 4.47224e-05 ENSE00001059696_017 ENSE00001059696 017 19 51207653 51207822 - 41 78 51 G A 51207778 3119 45 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTATCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704520 50704521 50704521 upstr_intron -7 -0.117647058823529 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTATCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 224 70 1 0.999454472032489 0.999727236016245 NA NA 0.764513862788864 0.887855320452461 NA NA 0.235486137211136 0.111599151580029 NA 0.826184591620662 NA 0.173542644395582 NA FALSE NA 0 -1.78 . splice_region_variant&intron_variant LOW SHANK1 HGNC 15474 ENST00000391814 8/24 1 NA GGT G,A 8.236e-06 19:50704521 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 splice_region_variant 0.07424 0.19338 0.01131 0.095506 0.708297977672827 0.146894 0.999999760947139 TRUE 4.06726e-06 ENSE00001059696_018 ENSE00001059696 018 19 51207653 51207822 - 41 78 51 C T 51207785 3120 38 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGACCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 50704527 50704528 50704528 upstr_intron -14 -0.254901960784314 CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGACCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA mutant NA NA NA NA NA 126 120 0.983906587511695 0.984530356845279 0.984218472178487 NA NA 0.764513862788864 0.887855320452461 NA NA 0.219392724722831 0.0966750363928187 NA 0.826184591620662 NA 0.158033880557825 NA FALSE NA 0 -0.538 . intron_variant MODIFIER SHANK1 HGNC 15474 ENST00000391814 8/24 1 NA GCC C,T 1.647e-05 19:50704528 SHANK1 HGNC Symbol protein_coding 57623 ENSG00000161681 ENSE00001059696 intron_variant 0.451053 0.15363 0.03584 0.095506 0.717073871080049 0.075834 0.999999760947139 TRUE NA ENSE00001059696_BRK ENSE00001059696 BRK 19 51207653 51207822 - 41 78 51 A,G; T,T NA NA NA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCTTGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGCCCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA 50704395 50704565 NA NA NA NA NA NA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCTTGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGCCCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA CTTAATTTTTTCTCTCTCTCTTTGTCCTGTGCCACTGGCCATTACCCGCAGGAGACCTGTGCCAGGATCCTCCTGTATCGAGGTGCCGACAAGGATGTGAAGAACAACAACGGACAGACCCCCTTCCAGGTCTGGGGCTGCAGGGGATGTGCTGGAGTTTCCAGGGCTAA control 155 254 0 0 0 NA NA NA NA NA NA NA 0.764513862788864 0.887855320452461 NA NA NA NA NA 0.826184591620662 NA NA NA NA NA NA NA NA NA NA SHANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SHANK1 NA NA NA ENSG00000161681 ENSE00001059696 NA NA NA NA NA NA NA 0.999999760947139 TRUE NA ENSE00001059844_000 ENSE00001059844 000 12 56717254 56717423 - 30 99 41 NA NA NA NA NA TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC 56323469 56323639 NA NA NA NA NA NA TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC natural 46 48 0.987054084856136 0.99360283085346 0.990328457854798 3858 3914 0.872139516652924 0.920615228653017 0.89637737265297 0.987054084856136 0.99360283085346 0.872139516652924 0.920615228653017 0 0 0 0 0.990328457854798 0.89637737265297 0 0 0 FALSE FALSE NA NA NA NA NA PAN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAN2 NA NA NA ENSG00000135473 ENSE00003612156 NA NA NA NA NA NA NA 0.946674806799818 TRUE NA ENSE00001059844_003 ENSE00001059844 003 12 56717254 56717423 - 30 99 41 T A 56717324 2086 100 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGATCAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC 56323469 56323639 56323539 56323540 56323540 exon -41 0.595959595959596 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGATCAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC mutant NA NA NA NA NA 1462 545 0.989023249777121 1 0.99451162488856 0.987054084856136 0.99360283085346 0.872139516652924 0.920615228653017 NA NA 0.116883733124197 0.0793847713469831 0.990328457854798 0.89637737265297 NA 0.0981342522355901 NA FALSE NA 1 7.925 . downstream_gene_variant MODIFIER PAN2 HGNC 20074 ENST00000550555 1 NA GTT T,A 8.236e-06 12:56323540 PAN2 HGNC Symbol protein_coding 17830 ENSG00000135473 ENSE00003612156 missense_variant 5.4643 0.9884 0.98636 0.706548 0.992293834426635 0 0.946674806799818 TRUE 4.06279e-06 ENSE00001059844_005 ENSE00001059844 005 12 56717254 56717423 - 30 99 41 T A 56717351 2088 73 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGTTATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC 56323469 56323639 56323566 56323567 56323567 exon 32 0.323232323232323 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGTTATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC mutant NA NA NA NA NA 329 273 1 0.99650808275776 0.99825404137888 0.987054084856136 0.99360283085346 0.872139516652924 0.920615228653017 NA NA 0.127860483347076 0.0758928541047431 0.990328457854798 0.89637737265297 NA 0.10187666872591 NA FALSE NA 1 7.667 rs138946880 downstream_gene_variant MODIFIER PAN2 HGNC 20074 ENST00000550555 rs138946880 1 NA A:0.0002 A:0 ATC T,A 1.647e-05 12:56323567 PAN2 HGNC Symbol protein_coding 17830 ENSG00000135473 ENSE00003612156 missense_variant 6.029989 0.99312 0.99015 0.706548 0.993440736538859 0 0.946674806799818 TRUE 8.12618e-06 ENSE00001059844_006 ENSE00001059844 006 12 56717254 56717423 - 30 99 41 G A 56717364 2089 60 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCTGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC 56323469 56323639 56323579 56323580 56323580 exon 19 0.191919191919192 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCTGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC mutant NA NA NA NA NA 1375 1146 0.749658427506699 0.933214940355451 0.841436683931075 0.987054084856136 0.99360283085346 0.872139516652924 0.920615228653017 NA NA -0.122481089146224 0.0125997117024337 0.990328457854798 0.89637737265297 NA -0.0549406887218953 NA FALSE NA 1 6.242 rs149370385 downstream_gene_variant MODIFIER PAN2 HGNC 20074 ENST00000550555 rs149370385 1 A:0.0016 A:0.0061 A:0 NA A:0 A:0 A:0 A:0.0043 A:0 CGG G,A 0.0004612 12:56323580 PAN2 HGNC Symbol protein_coding 17830 ENSG00000135473 ENSE00003612156 missense_variant 6.969352 0.98562 0.97752 0.706548 0.995568954753045 0 0.946674806799818 TRUE 0.000341475 ENSE00001059844_007 ENSE00001059844 007 12 56717254 56717423 - 30 99 41 G A 56717374 2090 50 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACTCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC 56323469 56323639 56323589 56323590 56323590 exon 9 0.0909090909090909 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACTCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC mutant NA NA NA NA NA 94 549 0.999561373847892 0.989781160940216 0.994671267394054 0.987054084856136 0.99360283085346 0.872139516652924 0.920615228653017 NA NA 0.127421857194969 0.0691659322871991 0.990328457854798 0.89637737265297 NA 0.098293894741084 NA FALSE NA 1 0.689 . downstream_gene_variant MODIFIER PAN2 HGNC 20074 ENST00000550555 1 NA GGG G,A 8.236e-06 12:56323590 PAN2 HGNC Symbol protein_coding 17830 ENSG00000135473 ENSE00003612156 synonymous_variant 0.376769 0.96755 0.86433 0.706548 0.697699564661133 0 0.946674806799818 TRUE NA ENSE00001059844_008 ENSE00001059844 008 12 56717254 56717423 - 30 99 41 G T 56717385 2091 39 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTAAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC 56323469 56323639 56323600 56323601 56323601 upstr_intron -3 -0.0487804878048781 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTAAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC mutant NA NA NA NA NA 807 726 0.931991377515972 0.965067266826945 0.948529322171459 0.987054084856136 0.99360283085346 0.872139516652924 0.920615228653017 NA NA 0.0598518608630486 0.0444520381739281 0.990328457854798 0.89637737265297 NA 0.0521519495184883 NA FALSE NA 1 2.798 . downstream_gene_variant MODIFIER PAN2 HGNC 20074 ENST00000550555 rs368207391 1 NA T:0 T:0.0001 TGA G,T 3.295e-05 12:56323601 PAN2 HGNC Symbol protein_coding 17830 ENSG00000135473 ENSE00003612156 splice_region_variant 0.776799 0.97563 0.96399 0.099367 0.778877428401961 0.364211 0.946674806799818 TRUE 2.03411e-05 ENSE00001059844_009 ENSE00001059844 009 12 56717254 56717423 - 30 99 41 G C 56717389 2092 35 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCGTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC 56323469 56323639 56323604 56323605 56323605 upstr_intron -7 -0.146341463414634 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCGTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC mutant NA NA NA NA NA 1449 175 0.999516176300521 1 0.999758088150261 0.987054084856136 0.99360283085346 0.872139516652924 0.920615228653017 NA NA 0.127376659647597 0.0793847713469831 0.990328457854798 0.89637737265297 NA 0.10338071549729 NA FALSE NA 0 0.796 . downstream_gene_variant MODIFIER PAN2 HGNC 20074 ENST00000550555 1 NA AGG G,C 8.236e-06 12:56323605 PAN2 HGNC Symbol protein_coding 17830 ENSG00000135473 ENSE00003612156 splice_region_variant -0.540441 0.24637 0.33082 0.099367 0.470879263163414 0.228854 0.946674806799818 TRUE 4.06908e-06 ENSE00001059844_010 ENSE00001059844 010 12 56717254 56717423 - 30 99 41 G T 56717390 2093 34 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTACTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC 56323469 56323639 56323605 56323606 56323606 upstr_intron -8 -0.170731707317073 TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTACTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC TGTACATTCCCTGCCATTCCTTGTTTGTTTCTTCCTCTCAGATTCAGACCCGCAACATCCGCCATCTGCCAGATATTCTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCTGAGGTAAGGACTCAGACTAGAAACAAGGCTTCC mutant NA NA NA NA NA 217 346 1 1 1 0.987054084856136 0.99360283085346 0.872139516652924 0.920615228653017 NA NA 0.127860483347076 0.0793847713469831 0.990328457854798 0.89637737265297 NA 0.10362262734703 NA FALSE NA 0 -0.139 . downstream_gene_variant MODIFIER PAN2 HGNC 20074 ENST00000550555 1 NA GGA G,T 8.236e-06 12:56323606 PAN2 HGNC Symbol protein_coding 17830 ENSG00000135473 ENSE00003612156 splice_region_variant -1.038703 0.2203 0.21193 0.099367 0.396542137862855 0.228854 0.946674806799818 TRUE NA ENSE00001060406_000 ENSE00001060406 000 12 50357827 50357996 + 48 84 38 NA NA NA NA NA AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 NA NA NA NA NA NA AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG natural 439 714 0.85 0.848444368220817 0.849222184110408 900 1354 0.837088321704688 0.841198364510183 0.839143343107435 0.85 0.848444368220817 0.837088321704688 0.841198364510183 0 0 0 0 0.849222184110408 0.839143343107435 0 0 0 FALSE FALSE NA NA NA NA NA AQP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AQP5 NA NA NA ENSG00000161798 ENSE00001060406 NA NA NA NA NA NA NA 0.00438548410684657 FALSE NA ENSE00001060406_002 ENSE00001060406 002 12 50357827 50357996 + 48 84 38 A T 50357838 1490 12 AGTGGACCAGGTTGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964054 49964055 49964055 upstr_intron -37 -0.75 AGTGGACCAGGTTGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 23 32 0.85 0.85 0.85 234 77 0.243361083061233 0.141995179021684 0.192678131041459 0.85 0.848444368220817 0.837088321704688 0.841198364510183 0 0.00155563177918339 -0.593727238643455 -0.699203185488499 0.849222184110408 0.839143343107435 0.000777815889591693 -0.646465212065977 0.647243027955568 TRUE FALSE 0 -0.633 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs201891721 1 NA GAT A,T 4.118e-05 12:49964055 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 non_coding_transcript_exon_variant -0.196758 0.21842 0.11392 0.095506 0.499211405180151 0.0699488 0.00438548410684657 FALSE 6.91839e-05 ENSE00001060406_003 ENSE00001060406 003 12 50357827 50357996 + 48 84 38 C T 50357844 1491 18 AGTGGACCAGGATGTTGTCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964060 49964061 49964061 upstr_intron -31 -0.625 AGTGGACCAGGATGTTGTCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 33 13 0.85 0.85 0.85 749 203 0.813119551032578 0.87705277377842 0.845086162405499 0.85 0.848444368220817 0.837088321704688 0.841198364510183 -1.11022302462516e-16 0.00155563177918328 -0.0239687706721096 0.0358544092682372 0.849222184110408 0.839143343107435 0.000777815889591582 0.00594281929806384 0.00516500340847226 FALSE FALSE 0 -0.344 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA GCC C,T 4.118e-05 12:49964061 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 non_coding_transcript_exon_variant 0.239321 0.18261 0.08583 0.095506 0.685881317330864 0.0699488 0.00438548410684657 FALSE 3.25553e-05 ENSE00001060406_005 ENSE00001060406 005 12 50357827 50357996 + 48 84 38 C T 50357857 1493 31 AGTGGACCAGGATGTTGCCTTTCTCTCCACTGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964073 49964074 49964074 upstr_intron -18 -0.354166666666667 AGTGGACCAGGATGTTGCCTTTCTCTCCACTGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 119 1304 0.0680639530215772 0.0161671151985831 0.0421155341100802 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA -0.769024368683111 -0.8250312493116 0.849222184110408 0.839143343107435 NA -0.797027808997355 NA TRUE NA 0 -2.584 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs555018280 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 0.0002059 12:49964074 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 non_coding_transcript_exon_variant -0.142598 0.17 0.0408 0.095506 0.633225183036104 0.0699488 0.00438548410684657 FALSE 0.000146274 ENSE00001060406_008 ENSE00001060406 008 12 50357827 50357996 + 48 84 38 C T 50357880 1496 54 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTATTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964096 49964097 49964097 exon 6 0.0714285714285714 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTATTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 101 27 0 0 0 NA NA NA NA NA 0.85 0.848444368220817 0.837088321704688 0.841198364510183 -0.85 -0.848444368220817 NA NA 0.849222184110408 0.839143343107435 -0.849222184110408 NA NA NA TRUE 0.997 1.006 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA ACT C,T 8.237e-06 12:49964097 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 synonymous_variant 0.807283 0.92006 0.67262 0.676563 0.814362571559014 0 0.00438548410684657 FALSE 8.12216e-06 ENSE00001060406_012 ENSE00001060406 012 12 50357827 50357996 + 48 84 38 C G 50357903 1500 77 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCGAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964119 49964120 49964120 exon 29 0.345238095238095 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCGAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 1127 613 0.0868651203027037 0.00557180679250099 0.0462184635476023 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA -0.750223201401984 -0.835626557717682 0.849222184110408 0.839143343107435 NA -0.792924879559833 NA TRUE NA 1 6.634 NA NA NA AQP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:49964120 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 5.707394 0.95895 0.94412 0.676563 0.998504742083656 0 0.00438548410684657 FALSE 1.62447e-05 ENSE00001060406_013 ENSE00001060406 013 12 50357827 50357996 + 48 84 38 C T 50357908 1501 82 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCTGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964124 49964125 49964125 exon 34 0.404761904761905 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCTGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 123 158 0.845530793325838 0.85 0.847765396662919 39 39 0.747507056443371 0.8 0.773753528221685 0.85 0.848444368220817 0.837088321704688 0.841198364510183 -0.00446920667416217 0.00155563177918339 -0.0895812652613169 -0.041198364510183 0.849222184110408 0.839143343107435 -0.00145678744748939 -0.06538981488575 0.0639330274382606 FALSE FALSE 0.902 2.906 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs368292687 1 NA T:0 T:0.0001 CCG C,T 9.884e-05 12:49964125 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 6.480471 0.92429 0.83674 0.676563 0.999249109626842 0 0.00438548410684657 FALSE 7.31012e-05 ENSE00001060406_016 ENSE00001060406 016 12 50357827 50357996 + 48 84 38 T C 50357922 1504 96 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCCGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964138 49964139 49964139 exon -37 0.571428571428571 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCCGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 24 125 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.848444368220817 0.837088321704688 0.841198364510183 0 0.00155563177918328 NA NA 0.849222184110408 0.839143343107435 0.000777815889591638 NA NA NA FALSE 0 -4.467 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA CTG T,C 1.647e-05 12:49964139 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 synonymous_variant -0.684936 0.61626 0.03926 0.676563 0.495871162293498 0 0.00438548410684657 FALSE 8.12255e-06 ENSE00001060406_017 ENSE00001060406 017 12 50357827 50357996 + 48 84 38 C T 50357924 1505 98 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGTGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964140 49964141 49964141 exon -35 0.595238095238095 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGTGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 10 30 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.848444368220817 0.837088321704688 0.841198364510183 0 0.00155563177918339 NA NA 0.849222184110408 0.839143343107435 0.000777815889591693 NA NA NA FALSE 1 6.634 rs117761535 upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs117761535&COSM3368845 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0.0007 T:0.001 GCG C,T 0.000626 12:49964141 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 4.818521 0.9545 0.93385 0.676563 0.998712433845972 0 0.00438548410684657 FALSE 0.00071482 ENSE00001060406_018 ENSE00001060406 018 12 50357827 50357996 + 48 84 38 G A 50357925 1506 99 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCAGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964141 49964142 49964142 exon -34 0.607142857142857 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCAGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 405 196 0.853757717418009 0.802761015392819 0.828259366405414 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA 0.0166693957133209 -0.0384373491173637 0.849222184110408 0.839143343107435 NA -0.0108839767020214 NA FALSE NA 0 -2.387 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA CGG A,A 2.471e-05 12:49964142 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 synonymous_variant 1.110871 0.60572 0.03505 0.676563 0.798889848533033 0 0.00438548410684657 FALSE 2.03069e-05 ENSE00001060406_019 ENSE00001060406 019 12 50357827 50357996 + 48 84 38 G T 50357926 1507 100 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGTTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964142 49964143 49964143 exon -33 0.619047619047619 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGTTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 157 253 0.85 0.85 0.85 156 105 0.773203843503049 0.8 0.786601921751525 0.85 0.848444368220817 0.837088321704688 0.841198364510183 -1.11022302462516e-16 0.00155563177918328 -0.0638844782016385 -0.041198364510183 0.849222184110408 0.839143343107435 0.000777815889591582 -0.0525414213559107 0.0533192372455023 FALSE FALSE 0.998 2.869 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA GGT G,T 8.237e-06 12:49964143 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 2.212649 0.95558 0.87583 0.676563 0.983425580535177 0 0.00438548410684657 FALSE 4.06131e-06 ENSE00001060406_020 ENSE00001060406 020 12 50357827 50357996 + 48 84 38 T C 50357927 1508 101 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGCGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964143 49964144 49964144 exon -32 0.630952380952381 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGCGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 787 317 0.81470190418093 0.866005319576077 0.840353611878503 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA -0.022386417523758 0.024806955065894 0.849222184110408 0.839143343107435 NA 0.001210268771068 NA FALSE NA 1 6.82 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA GTG T,C 0.0001236 12:49964144 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 2.122437 0.94527 0.93182 0.676563 0.993167506051658 0 0.00438548410684657 FALSE 7.31048e-05 ENSE00001060406_021 ENSE00001060406 021 12 50357827 50357996 + 48 84 38 C T 50357938 1509 112 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATTGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964154 49964155 49964155 exon -21 0.761904761904762 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATTGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 277 23 0 0 0 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA -0.837088321704688 -0.841198364510183 0.849222184110408 0.839143343107435 NA -0.839143343107435 NA TRUE NA 0.25 1.179 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs202006860 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 8.237e-05 12:49964155 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 7.249163 0.8798 0.19306 0.676563 0.999230424470396 0 0.00438548410684657 FALSE 8.93604e-05 ENSE00001060406_022 ENSE00001060406 022 12 50357827 50357996 + 48 84 38 G A 50357939 1510 113 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCAGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964155 49964156 49964156 exon -20 0.773809523809524 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCAGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 184 78 0.00714236915050687 0 0.00357118457525344 219 78 0 0 0 0.85 0.848444368220817 0.837088321704688 0.841198364510183 -0.842857630849493 -0.848444368220817 -0.837088321704688 -0.841198364510183 0.849222184110408 0.839143343107435 -0.845650999535155 -0.839143343107435 0.00650765642771944 TRUE TRUE 0.813 2.144 NA NA NA AQP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:49964156 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 3.810248 0.90501 0.47652 0.676563 0.997080518842942 0 0.00438548410684657 FALSE 2.03092e-05 ENSE00001060406_024 ENSE00001060406 024 12 50357827 50357996 + 48 84 38 G A 50357940 1512 114 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGATTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964156 49964157 49964157 exon -19 0.785714285714286 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGATTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 20 19 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.848444368220817 0.837088321704688 0.841198364510183 0 0.00155563177918339 NA NA 0.849222184110408 0.839143343107435 0.000777815889591693 NA NA NA FALSE 0.813 -0.184 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs530297960 1 NA GGT G,A 8.237e-06 12:49964157 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 synonymous_variant 1.000229 0.87116 0.26946 0.676563 0.771071736509398 0 0.00438548410684657 FALSE 8.12374e-06 ENSE00001060406_025 ENSE00001060406 025 12 50357827 50357996 + 48 84 38 C T 50357946 1513 120 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGTCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964162 49964163 49964163 exon -13 0.857142857142857 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGTCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 154 749 0.786286180208569 0.800337560204146 0.793311870206358 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA -0.0508021414961186 -0.0408608043060367 0.849222184110408 0.839143343107435 NA -0.0458314729010776 NA FALSE NA 0.24 1.295 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA GCC C,T 4.118e-05 12:49964163 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 synonymous_variant 1.437068 0.92684 0.70956 0.676563 0.76714033099574 0 0.00438548410684657 FALSE 5.68731e-05 ENSE00001060406_026 ENSE00001060406 026 12 50357827 50357996 + 48 84 38 C A 50357947 1514 121 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCACCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964163 49964164 49964164 exon -12 0.869047619047619 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCACCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 48 117 0.85 0.85 0.85 239 10 0.657167905892741 0.8 0.72858395294637 0.85 0.848444368220817 0.837088321704688 0.841198364510183 0 0.00155563177918339 -0.179920415811947 -0.041198364510183 0.849222184110408 0.839143343107435 0.000777815889591693 -0.110559390161065 0.111337206050657 FALSE FALSE 0.002 -0.728 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA CCC C,A 1.647e-05 12:49964164 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 0.948572 0.44267 0.14166 0.676563 0.959267315394904 0 0.00438548410684657 FALSE 8.12433e-06 ENSE00001060406_027 ENSE00001060406 027 12 50357827 50357996 + 48 84 38 C T 50357949 1515 123 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCTGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964165 49964166 49964166 exon -10 0.892857142857143 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCTGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 49 1610 0.884532523441683 0.914137591715552 0.899335057578618 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA 0.0474442017369952 0.0729392272053692 0.849222184110408 0.839143343107435 NA 0.0601917144711822 NA FALSE NA 0 -0.607 rs145485849 upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs145485849 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 0.0004448 12:49964166 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 synonymous_variant 1.57611 0.21181 0.05824 0.676563 0.819934421685155 0 0.00438548410684657 FALSE 0.000422517 ENSE00001060406_028 ENSE00001060406 028 12 50357827 50357996 + 48 84 38 G A 50357950 1516 124 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCACTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964166 49964167 49964167 exon -9 0.904761904761905 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCACTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 15 12 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.848444368220817 0.837088321704688 0.841198364510183 0 0.00155563177918339 NA NA 0.849222184110408 0.839143343107435 0.000777815889591693 NA NA NA FALSE 0 -0.045 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA CGC G,A 1.647e-05 12:49964167 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 missense_variant 1.09236 0.21678 0.12414 0.676563 0.933197109274455 0 0.00438548410684657 FALSE 4.06286e-06 ENSE00001060406_029 ENSE00001060406 029 12 50357827 50357996 + 48 84 38 C T 50357969 1517 143 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTTCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964185 49964186 49964186 downstr_intron 11 1.2972972972973 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTTCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 333 297 0 0.0201073073873338 0.0100536536936669 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA -0.837088321704688 -0.821091057122849 0.849222184110408 0.839143343107435 NA -0.829089689413768 NA TRUE NA 0 -1.066 rs182296829 upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs182296829 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCC C,T 4.942e-05 12:49964186 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 intron_variant 0.284278 0.13683 0.01748 0.095506 0.675366049579776 0.0689011 0.00438548410684657 FALSE 4.47224e-05 ENSE00001060406_030 ENSE00001060406 030 12 50357827 50357996 + 48 84 38 C T 50357975 1518 149 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCTCCTGGCTCCCTGGAGATGAGG 49964043 49964213 49964191 49964192 49964192 downstr_intron 17 1.45945945945946 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCTCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 152 92 0 0.00349781105128096 0.00174890552564048 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA -0.837088321704688 -0.837700553458902 0.849222184110408 0.839143343107435 NA -0.837394437581795 NA TRUE NA 0 -0.276 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs548493514 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCC C,T 0.0002142 12:49964192 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 intron_variant 0.237164 0.13353 0.02977 0.095506 0.692485005587248 0.0881353 0.00438548410684657 FALSE 0.000236031 ENSE00001060406_031 ENSE00001060406 031 12 50357827 50357996 + 48 84 38 G A 50357980 1519 154 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGACTCCCTGGAGATGAGG 49964043 49964213 49964196 49964197 49964197 downstr_intron 22 1.59459459459459 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGACTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 45 60 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.848444368220817 0.837088321704688 0.841198364510183 0 0.00155563177918339 NA NA 0.849222184110408 0.839143343107435 0.000777815889591693 NA NA NA FALSE 0 0.204 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA GGC G,A 8.237e-06 12:49964197 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 intron_variant 0.457153 0.13569 0.03208 0.095506 0.757911513550362 0.0881353 0.00438548410684657 FALSE NA ENSE00001060406_032 ENSE00001060406 032 12 50357827 50357996 + 48 84 38 C A 50357983 1520 157 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTACCTGGAGATGAGG 49964043 49964213 49964199 49964200 49964200 downstr_intron 25 1.67567567567568 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTACCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant NA NA NA NA NA 168 145 0.634105927811567 0.8 0.717052963905784 0.85 0.848444368220817 0.837088321704688 0.841198364510183 NA NA -0.20298239389312 -0.041198364510183 0.849222184110408 0.839143343107435 NA -0.122090379201652 NA FALSE NA 0 0.839 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 rs372647402 1 NA A:0 A:0.0002 TCC C,A 3.295e-05 12:49964200 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 intron_variant 0.817813 0.36692 0.16983 0.095506 0.912441724700394 0.0881353 0.00438548410684657 FALSE 2.03593e-05 ENSE00001060406_033 ENSE00001060406 033 12 50357827 50357996 + 48 84 38 C G 50357985 1521 159 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCGTGGAGATGAGG 49964043 49964213 49964201 49964202 49964202 downstr_intron 27 1.72972972972973 AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCGTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG mutant 16 15 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.848444368220817 0.837088321704688 0.841198364510183 -1.11022302462516e-16 0.00155563177918339 NA NA 0.849222184110408 0.839143343107435 0.000777815889591638 NA NA NA FALSE 0 0.419 . upstream_gene_variant MODIFIER AQP6 HGNC 639 ENST00000551733 1 NA CCT C,G 8.237e-06 12:49964202 AQP5 HGNC Symbol protein_coding 3811 ENSG00000161798 ENSE00001060406 intron_variant 0.739562 0.65879 0.2435 0.095506 0.861318501654168 0.0881353 0.00438548410684657 FALSE 8.14664e-06 ENSE00001060406_BRK ENSE00001060406 BRK 12 50357827 50357996 + 48 84 38 A,G; T,T NA NA NA AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCTTATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGCCGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG 49964043 49964213 NA NA NA NA NA NA AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCTTATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGCCGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG AGTGGACCAGGATGTTGCCTTTCTCTCCACCGCCCTGTCTCTATCCAGATCTACTTCACTGGCTGCTCCATGAACCCAGCCCGCTCTTTTGGCCCTGCGGTGGTCATGAATCGGTTCAGCCCCGCTCACTGGGTGAGTCTGTCCCTTCCCCTGGCTCCCTGGAGATGAGG control 15 17 0 0 0 NA NA NA NA NA 0.85 0.848444368220817 0.837088321704688 0.841198364510183 -0.85 -0.848444368220817 NA NA 0.849222184110408 0.839143343107435 -0.849222184110408 NA NA NA TRUE NA NA NA NA NA AQP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AQP5 NA NA NA ENSG00000161798 ENSE00001060406 NA NA NA NA NA NA NA 0.00438548410684657 FALSE NA ENSE00001060784_000 ENSE00001060784 000 19 10429800 10429969 - 42 75 53 NA NA NA NA NA TAAAAGCTGATTGCTACACATGCCATACCAGGTGGCTCTTACCTTGTGTCGGCTGGGTCCGTGAGGCCCAAGGGCTGGTTCCCGTGGGTGGGAGAAGAGCCGCCGAGGTCCCATGTCCTGAATGAAAGCGGGAGAAGCACATTGGGTTGGAGTCTGTCCCAGCCTCACCC 10319123 10319293 NA NA NA NA NA NA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA natural 84 53 0.979438400780373 0.998833438216289 0.989135919498331 882 1277 0.939251606090263 0.942499347162343 0.940875476626303 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 0 0 0 0 0.989135919498331 0.940875476626303 0 0 0 FALSE FALSE NA NA NA NA NA FDX1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAVER1 NA NA NA ENSG00000161847 ENSE00003666897 NA NA NA NA NA NA NA 0.982340267394972 TRUE NA ENSE00001060784_BRK ENSE00001060784 BRK 19 10429800 10429969 - 42 75 53 A,G; T,T NA NA NA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCTTGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGCCAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA 10319123 10319293 NA NA NA NA NA NA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCTTGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGCCAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA GGGTGAGGCTGGGACAGACTCCAACCCAATGTGCTTCTCCCGCTTTCATTCAGGACATGGGACCTCGGCGGCTCTTCTCCCACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGGTAAGAGCCACCTGGTATGGCATGTGTAGCAATCAGCTTTTA control 79 84 0 0 0 124 46 0 0.119053417401838 0.0595267087009191 0.979438400780373 0.998833438216289 0.939251606090263 0.942499347162343 -0.979438400780373 -0.998833438216289 -0.939251606090263 -0.823445929760505 0.989135919498331 0.940875476626303 -0.989135919498331 -0.881348767925384 0.107787151572946 TRUE TRUE NA NA NA NA NA FDX1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAVER1 NA NA NA ENSG00000161847 ENSE00003666897 NA NA NA NA NA NA NA 0.982340267394972 TRUE NA ENSE00001062406_000 ENSE00001062406 000 16 2489699 2489868 + 51 78 41 NA NA NA NA NA GAAAGGCCAGCTCCCCACGTCATCCCAGCCCCGCACCTCACCTGCGCTTCCCAGCAGCCTTTGGCAGCGTAGTCCCTGAGTTTTCGGAAGCTGTGGAGGCATCGCCCAGGATCTGACACCTGTCAATGGGAGATCACCGAGCCTTTGTACAACTGTGTCTTGGGAGGAAC 2439697 2439867 NA NA NA NA NA NA GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC natural 44 140 0.977148625113314 0.884660798335593 0.930904711724454 983 605 0.958767550323091 0.994059889308672 0.976413719815882 0.977148625113314 0.884660798335593 0.958767550323091 0.994059889308672 0 0 0 0 0.930904711724454 0.976413719815882 0 0 0 FALSE FALSE NA NA NA NA NA CCNF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCNF NA NA NA ENSG00000162063 ENSE00003646896 NA NA NA NA NA NA NA 0.0243519280324674 FALSE NA ENSE00001062406_009 ENSE00001062406 009 16 2489699 2489868 + 51 78 41 G A 2489731 135 33 GAAAGGCCAGCTCCCCACGTCATCCCAGCCCCGCACCTCACCTGCGCTTCCCAGCAGCCTTTGGCAGCGTAGTCCCTGAGTTTTCGGAAGCTGTGGAGGCATCGCCCAGGATCTGACACCTGTCAATGGGAGATCACTGAGCCTTTGTACAACTGTGTCTTGGGAGGAAC 2439697 2439867 2439729 2439730 2439730 upstr_intron -19 -0.352941176470588 GTTCCTCCCAAGACACAGTTGTACAAAGGCTCAGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC mutant 32 36 0.85 0.85 0.85 NA NA NA NA NA 0.977148625113314 0.884660798335593 0.958767550323091 0.994059889308672 -0.127148625113314 -0.0346607983355932 NA NA 0.930904711724454 0.976413719815882 -0.0809047117244538 NA NA NA FALSE 0.001 0.726 . upstream_gene_variant MODIFIER CCNF HGNC 1591 ENST00000564236 1 NA CGG G,A 1.647e-05 16:2439730 CCNF HGNC Symbol protein_coding 29460 ENSG00000162063 ENSE00003646896 intron_variant -0.09738 0.2814 0.2827 0.099367 0.30215571490295 0.0379778 0.0243519280324674 FALSE 1.22394e-05 ENSE00001062406_013 ENSE00001062406 013 16 2489699 2489868 + 51 78 41 A G 2489757 139 59 GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGGTCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC 2439697 2439867 2439755 2439756 2439756 exon 8 0.102564102564103 GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGGTCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC mutant 13 41 0.85 0.85 0.85 NA NA NA NA NA 0.977148625113314 0.884660798335593 0.958767550323091 0.994059889308672 -0.127148625113314 -0.0346607983355932 NA NA 0.930904711724454 0.976413719815882 -0.0809047117244538 NA NA NA FALSE 1 9.081 . upstream_gene_variant MODIFIER CCNF HGNC 1591 ENST00000564236 rs549764947 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GAT A,G 8.236e-06 16:2439756 CCNF HGNC Symbol protein_coding 29460 ENSG00000162063 ENSE00003646896 missense_variant 4.89374 0.9696 0.98108 0.706548 0.997235630824508 0 0.0243519280324674 FALSE 4.06504e-06 ENSE00001062406_019 ENSE00001062406 019 16 2489699 2489868 + 51 78 41 C T 2489800 145 102 GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTATGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC 2439697 2439867 2439798 2439799 2439799 exon -28 0.653846153846154 GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTATGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC mutant 11 30 0.85 0.85 0.85 NA NA NA NA NA 0.977148625113314 0.884660798335593 0.958767550323091 0.994059889308672 -0.127148625113314 -0.0346607983355932 NA NA 0.930904711724454 0.976413719815882 -0.0809047117244538 NA NA NA FALSE 0.452 -0.248 . upstream_gene_variant MODIFIER CCNF HGNC 1591 ENST00000564236 1 NA ACG C,T 1.647e-05 16:2439799 CCNF HGNC Symbol protein_coding 29460 ENSG00000162063 ENSE00003646896 synonymous_variant 1.653574 0.76794 0.18879 0.722319 0.658161542555445 0 0.0243519280324674 FALSE 2.439e-05 ENSE00001062406_024 ENSE00001062406 024 16 2489699 2489868 + 51 78 41 G A 2489838 150 140 GAAAGGCCAGCTCCCCACGTCATCCCAGCCTCGCACCTCACCTGCGCTTCCCAGCAGCCTTTGGCAGCGTAGTCCCTGAGTTTTCGGAAGCTGTGGAGGCATCGCCCAGGATCTGACACCTGTCAATGGGAGATCACCGAGCCTTTGTACAACTGTGTCTTGGGAGGAAC 2439697 2439867 2439836 2439837 2439837 downstr_intron 11 1.275 GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGAGGCTGGGATGACGTGGGGAGCTGGCCTTTC GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC mutant 11 30 0.85 0.85 0.85 NA NA NA NA NA 0.977148625113314 0.884660798335593 0.958767550323091 0.994059889308672 -0.127148625113314 -0.0346607983355932 NA NA 0.930904711724454 0.976413719815882 -0.0809047117244538 NA NA NA FALSE 0.888 0.513 . upstream_gene_variant MODIFIER CCNF HGNC 1591 ENST00000564236 1 NA GGG G,A 1.647e-05 16:2439837 CCNF HGNC Symbol protein_coding 29460 ENSG00000162063 ENSE00003646896 intron_variant 0.003133 0.28739 0.31954 0.062308 0.612182550074026 0.0588481 0.0243519280324674 FALSE 8.16173e-06 ENSE00001062406_027 ENSE00001062406 027 16 2489699 2489868 + 51 78 41 G A 2489851 153 153 GAAAGGCCAGCTCCCCATGTCATCCCAGCCCCGCACCTCACCTGCGCTTCCCAGCAGCCTTTGGCAGCGTAGTCCCTGAGTTTTCGGAAGCTGTGGAGGCATCGCCCAGGATCTGACACCTGTCAATGGGAGATCACCGAGCCTTTGTACAACTGTGTCTTGGGAGGAAC 2439697 2439867 2439849 2439850 2439850 downstr_intron 24 1.6 GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACATGGGGAGCTGGCCTTTC GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC mutant NA NA NA NA NA 141 25 0.978997321349449 0.952595085009665 0.965796203179557 0.977148625113314 0.884660798335593 0.958767550323091 0.994059889308672 NA NA 0.0202297710263581 -0.0414648042990075 0.930904711724454 0.976413719815882 NA -0.0106175166363247 NA FALSE NA 0 -1.216 . upstream_gene_variant MODIFIER CCNF HGNC 1591 ENST00000564236 rs376889526 1 NA A:0.0002 A:0 CGT G,A 8.237e-06 16:2439850 CCNF HGNC Symbol protein_coding 29460 ENSG00000162063 ENSE00003646896 intron_variant -0.124342 0.14574 0.01292 0.062308 0.605971333244705 0.0373417 0.0243519280324674 FALSE 1.23452e-05 ENSE00001062406_028 ENSE00001062406 028 16 2489699 2489868 + 51 78 41 G A 2489853 154 155 GAAAGGCCAGCTCCCTACGTCATCCCAGCCCCGCACCTCACCTGCGCTTCCCAGCAGCCTTTGGCAGCGTAGTCCCTGAGTTTTCGGAAGCTGTGGAGGCATCGCCCAGGATCTGACACCTGTCAATGGGAGATCACCGAGCCTTTGTACAACTGTGTCTTGGGAGGAAC 2439697 2439867 2439851 2439852 2439852 downstr_intron 26 1.65 GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTAGGGAGCTGGCCTTTC GTTCCTCCCAAGACACAGTTGTACAAAGGCTCGGTGATCTCCCATTGACAGGTGTCAGATCCTGGGCGATGCCTCCACAGCTTCCGAAAACTCAGGGACTACGCTGCCAAAGGCTGCTGGGAAGCGCAGGTGAGGTGCGGGGCTGGGATGACGTGGGGAGCTGGCCTTTC mutant NA NA NA NA NA 73 25 0.855912304644082 0.882585660005938 0.86924898232501 0.977148625113314 0.884660798335593 0.958767550323091 0.994059889308672 NA NA -0.102855245679009 -0.111474229302734 0.930904711724454 0.976413719815882 NA -0.107164737490872 NA FALSE NA 0 -1.504 . upstream_gene_variant MODIFIER CCNF HGNC 1591 ENST00000564236 rs566018248 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGG G,A 3.295e-05 16:2439852 CCNF HGNC Symbol protein_coding 29460 ENSG00000162063 ENSE00003646896 intron_variant 0.121171 0.16156 0.02631 0.062308 0.553641332206003 0.0373417 0.0243519280324674 FALSE 1.23538e-05 ENSE00001062870_000 ENSE00001062870 000 11 72554456 72554625 - 38 84 48 NA NA NA NA NA TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT 72843410 72843580 NA NA NA NA NA NA TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT natural 149 209 0.842607373635552 0.682666520499295 0.762636947067423 3260 2598 0.852682372425019 0.724733502972748 0.788707937698883 0.842607373635552 0.682666520499295 0.852682372425019 0.724733502972748 0 0 0 0 0.762636947067423 0.788707937698883 0 0 0 FALSE FALSE NA NA NA NA NA FCHSD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCHSD2 NA NA NA ENSG00000137478 ENSE00003538320 NA NA NA NA NA NA NA 0.994752587131223 TRUE NA ENSE00001066314_000 ENSE00001066314 000 1 23779148 23779317 - 42 75 53 NA NA NA NA NA GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 NA NA NA NA NA NA GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG natural 33 43 0.997756956644105 1 0.998878478322053 366 612 0.998529028106284 0.993554086911246 0.996041557508765 0.997756956644105 1 0.998529028106284 0.993554086911246 0 0 0 0 0.998878478322053 0.996041557508765 0 0 0 FALSE FALSE NA NA NA NA NA ASAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASAP3 NA NA NA ENSG00000088280 ENSE00003609137 NA NA NA NA NA NA NA 2.35907220968951e-10 FALSE NA ENSE00001066314_002 ENSE00001066314 002 1 23779148 23779317 - 42 75 53 C T 23779162 717 156 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTAGGACAGAGTAAAAG 23452654 23452824 23452668 23452669 23452669 downstr_intron 28 1.68292682926829 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTAGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 229 20 0.916218875353696 0.992008816475837 0.954113845914766 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.082310152752588 -0.00154527043540931 0.998878478322053 0.996041557508765 NA -0.0419277115939987 NA FALSE NA 0 0.14 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/24 1 NA CCA C,T 1.647e-05 1:23452669 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant 0.313324 0.22219 0.14648 0.088506 0.391884141295423 0.0735943 2.35907220968951e-10 FALSE 1.22405e-05 ENSE00001066314_003 ENSE00001066314 003 1 23779148 23779317 - 42 75 53 C T 23779167 718 151 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGATGGTGGGACAGAGTAAAAG 23452654 23452824 23452673 23452674 23452674 downstr_intron 23 1.5609756097561 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGATGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 91 114 1 0.993755540334567 0.996877770167284 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.000201453423321341 0.998878478322053 0.996041557508765 NA 0.000836212658518798 NA FALSE NA 0 -0.433 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/24 1 NA ACC C,T 8.236e-06 1:23452674 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant 0.385216 0.25403 0.05227 0.088506 0.584078802373297 0.0735943 2.35907220968951e-10 FALSE 4.07844e-06 ENSE00001066314_004 ENSE00001066314 004 1 23779148 23779317 - 42 75 53 C T 23779173 719 145 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGAGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452679 23452680 23452680 downstr_intron 17 1.41463414634146 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGAGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 323 15 0.997141065869121 1 0.99857053293456 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.00138796223716275 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.00252897542579555 NA FALSE NA 0.002 -0.411 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/24 1 NA CCC C,T 8.236e-06 1:23452680 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant 0.2153 0.2059 0.05016 0.088506 0.593715953846015 0.106815 2.35907220968951e-10 FALSE 8.15262e-06 ENSE00001066314_005 ENSE00001066314 005 1 23779148 23779317 - 42 75 53 A T 23779178 720 140 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCAAGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452684 23452685 23452685 downstr_intron 12 1.29268292682927 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCAAGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 205 149 0.981555104787128 1 0.990777552393564 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.0169739233191553 0.00644591308875386 0.998878478322053 0.996041557508765 NA -0.0052640051152007 NA FALSE NA 0 -0.22 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/24 1 NA CAT A,T 8.236e-06 1:23452685 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant 0.965114 0.24375 0.04686 0.088506 0.750701043179048 0.208722 2.35907220968951e-10 FALSE 4.07515e-06 ENSE00001066314_006 ENSE00001066314 006 1 23779148 23779317 - 42 75 53 G A 23779180 721 138 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCTATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452686 23452687 23452687 downstr_intron 10 1.24390243902439 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCTATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 459 65 0.991591084977192 1 0.995795542488596 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.00693794312909179 0.00644591308875386 0.998878478322053 0.996041557508765 NA -0.000246015020168966 NA FALSE NA 0 -0.484 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/24 1 NA TGG G,A 4.118e-05 1:23452687 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant 1.520782 0.23432 0.07633 0.088506 0.843232930365412 0.304217 2.35907220968951e-10 FALSE 4.48178e-05 ENSE00001066314_007 ENSE00001066314 007 1 23779148 23779317 - 42 75 53 C T 23779190 722 128 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAAGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452696 23452697 23452697 exon -1 1 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAAGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant 41 58 0.85 0.85 0.85 199 39 0.806458521475399 0.837379692042547 0.821919106758973 0.997756956644105 1 0.998529028106284 0.993554086911246 -0.147756956644105 -0.15 -0.192070506630885 -0.156174394868699 0.998878478322053 0.996041557508765 -0.148878478322053 -0.174122450749792 0.0252439724277397 FALSE FALSE 1 2.218 rs144157639 splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW ASAP3 HGNC 14987 ENST00000492982 4/25 rs144157639 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0023 CCT C,T 0.001268 1:23452697 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 splice_region_variant 1.915372 0.91998 0.85817 0.706298 0.817753746751545 0 2.35907220968951e-10 FALSE 0.00120573 ENSE00001066314_008 ENSE00001066314 008 1 23779148 23779317 - 42 75 53 C G 23779194 723 124 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCCACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452700 23452701 23452701 exon -5 0.946666666666667 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCCACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 177 79 1 1 1 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.00395844249123506 NA FALSE NA 1 2.824 rs139815549 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/25 rs139815549 1 NA T:0.0002 T:0 TCG C,G 8.236e-06 1:23452701 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 missense_variant 7.451062 0.96625 0.94985 0.706298 0.997373196604495 0 2.35907220968951e-10 FALSE 4.07332e-06 ENSE00001066314_010 ENSE00001066314 010 1 23779148 23779317 - 42 75 53 C T 23779198 725 120 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACAGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452704 23452705 23452705 exon -9 0.893333333333333 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACAGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 335 45 0.99433736546246 1 0.99716868273123 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.00419166264382342 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.00112712522246522 NA FALSE NA 0.002 1.297 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/25 rs553500353 1 NA CCG C,T 1.647e-05 1:23452705 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 missense_variant 3.507991 0.94084 0.32772 0.706298 0.996792724783467 0 2.35907220968951e-10 FALSE 1.22211e-05 ENSE00001066314_011 ENSE00001066314 011 1 23779148 23779317 - 42 75 53 G A 23779199 726 119 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGATGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452705 23452706 23452706 exon -10 0.88 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGATGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 275 119 1 1 1 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.00395844249123506 NA FALSE NA 0 -1.111 rs141042381 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/25 rs141042381 1 NA A:0.0005 A:0.0001 CGT G,A 1.647e-05 1:23452706 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 synonymous_variant 1.37539 0.92856 0.16063 0.706298 0.719712596090313 0 2.35907220968951e-10 FALSE 4.48043e-05 ENSE00001066314_012 ENSE00001066314 012 1 23779148 23779317 - 42 75 53 C T 23779212 727 106 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGAGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452718 23452719 23452719 exon -23 0.706666666666667 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGAGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 348 31 0.995492756348561 0.994863667242231 0.995178211795396 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.00303627175772281 0.00130958033098483 0.998878478322053 0.996041557508765 NA -0.00086334571336899 NA FALSE NA 0.98 2.3 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/25 1 NA CCC C,T 8.236e-06 1:23452719 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 missense_variant 5.976507 0.96523 0.90019 0.706298 0.996991107045253 0 2.35907220968951e-10 FALSE 1.22167e-05 ENSE00001066314_013 ENSE00001066314 013 1 23779148 23779317 - 42 75 53 G A 23779222 728 96 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTTTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452728 23452729 23452729 exon -33 0.573333333333333 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTTTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 129 37 1 1 1 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.00395844249123506 NA FALSE NA 1 0.61 NA NA NA ASAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:23452729 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 synonymous_variant 1.320956 0.96501 0.83035 0.732398 0.784816257003508 0 2.35907220968951e-10 FALSE 4.07302e-06 ENSE00001066314_015 ENSE00001066314 015 1 23779148 23779317 - 42 75 53 G A 23779239 730 79 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTTTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452745 23452746 23452746 exon 26 0.346666666666667 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTTTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 304 398 0.977856629318533 1 0.988928314659266 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.020672398787751 0.00644591308875386 0.998878478322053 0.996041557508765 NA -0.00711324284949855 NA FALSE NA 1 9.089 rs145858368 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/25 COSM159211 1 NA AGA G,A 1.647e-05 1:23452746 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 missense_variant 5.322905 0.99036 0.99055 0.732398 0.998350635579195 0 2.35907220968951e-10 FALSE 1.63001e-05 ENSE00001066314_016 ENSE00001066314 016 1 23779148 23779317 - 42 75 53 A G 23779240 731 78 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCCCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452746 23452747 23452747 exon 25 0.333333333333333 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCCCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 333 314 0.982313555757159 0.999269468491017 0.990791512124088 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.0162154723491251 0.00571538157977136 0.998878478322053 0.996041557508765 NA -0.00525004538467688 NA FALSE NA 1 2.317 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/25 1 NA GAG A,G 1.647e-05 1:23452747 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 missense_variant 4.596504 0.9644 0.88447 0.732398 0.99798510508254 0 2.35907220968951e-10 FALSE 4.07491e-06 ENSE00001066314_017 ENSE00001066314 017 1 23779148 23779317 - 42 75 53 T C 23779252 732 66 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGGACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452758 23452759 23452759 exon 13 0.173333333333333 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGGACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 680 197 0.992407700216746 1 0.996203850108373 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.00612132788953756 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.000162292599608149 NA FALSE NA 1 7.388 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/25 1 NA TTC T,C 8.236e-06 1:23452759 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 missense_variant 4.543481 0.98268 0.98528 0.732398 0.99698363943462 0 2.35907220968951e-10 FALSE 4.07618e-06 ENSE00001066314_018 ENSE00001066314 018 1 23779148 23779317 - 42 75 53 C G 23779253 733 65 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTCAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452759 23452760 23452760 exon 12 0.16 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTCAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 221 18 1 1 1 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.00395844249123506 NA FALSE NA 1 0.655 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 4/25 rs201194561 1 NA G:0 G:0.0001 TCA C,G 0.0001153 1:23452760 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 missense_variant 6.031448 0.97618 0.81779 0.732398 0.998769787758902 0 2.35907220968951e-10 FALSE 0.000130458 ENSE00001066314_020 ENSE00001066314 020 1 23779148 23779317 - 42 75 53 A G 23779271 735 47 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTCTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452777 23452778 23452778 upstr_intron -7 -0.113207547169811 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTCTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 79 23 1 1 1 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.00395844249123506 NA FALSE NA 0.956 2.064 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ASAP3 HGNC 14987 ENST00000492982 3/24 1 NA AAA A,G 1.647e-05 1:23452778 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 splice_region_variant 0.297158 0.96439 0.78185 0.088506 0.674438650002173 0.374277 2.35907220968951e-10 FALSE 8.158e-06 ENSE00001066314_021 ENSE00001066314 021 1 23779148 23779317 - 42 75 53 C T 23779281 736 37 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCATCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452787 23452788 23452788 upstr_intron -17 -0.30188679245283 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCATCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 183 381 1 0.999584675901084 0.999792337950542 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.00603058898983755 0.998878478322053 0.996041557508765 NA 0.0037507804417769 NA FALSE NA 0.001 -1.04 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 3/24 rs374777437 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0002 T:0 ACG C,T 8.237e-05 1:23452788 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant -0.425562 0.46977 0.02021 0.088506 0.617259524578017 0.334963 2.35907220968951e-10 FALSE 6.53675e-05 ENSE00001066314_022 ENSE00001066314 022 1 23779148 23779317 - 42 75 53 G A 23779282 737 36 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGTGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452788 23452789 23452789 upstr_intron -18 -0.320754716981132 GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGTGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 454 117 0.968169091391347 0.991068889600511 0.979618990495929 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.0303599367149364 -0.00248519731073538 0.998878478322053 0.996041557508765 NA -0.0164225670128359 NA FALSE NA 0 -0.107 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 3/24 rs557667100 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGC G,A 1.647e-05 1:23452789 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant -0.261754 0.57131 0.0105 0.088506 0.519122544822179 0.332288 2.35907220968951e-10 FALSE 1.63423e-05 ENSE00001066314_026 ENSE00001066314 026 1 23779148 23779317 - 42 75 53 A T 23779302 741 16 GGGGCTGGATGCCGGACACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452808 23452809 23452809 upstr_intron -38 -0.69811320754717 GGGGCTGGATGCCGGACACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 329 23 0.997193427759617 0.907374192554683 0.95228381015715 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA -0.0013356003466668 -0.0861798943565634 0.998878478322053 0.996041557508765 NA -0.0437577473516151 NA FALSE NA 0.451 3.228 rs77804808 intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 3/24 rs77804808 1 T:0.0230 T:0.0802 T:0.013 NA T:0 T:0 T:0 T:0.0583 T:0.0007 GAC A,T 0.005774 1:23452809 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant 0.361243 0.22366 0.77717 0.088506 0.773069405285018 0.606576 2.35907220968951e-10 FALSE 0.00467676 ENSE00001066314_027 ENSE00001066314 027 1 23779148 23779317 - 42 75 53 C T 23779304 742 14 GGGGCTGGATGCCAGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452810 23452811 23452811 upstr_intron -40 -0.735849056603774 GGGGCTGGATGCCAGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 169 621 1 0.999261195650651 0.999630597825326 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.00570710873940516 0.998878478322053 0.996041557508765 NA 0.00358904031656071 NA FALSE NA 0 -2.466 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 3/24 1 NA CCG C,T 8.237e-06 1:23452811 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant 0.027857 0.08966 0.00093 0.088506 0.794055453623913 0.126862 2.35907220968951e-10 FALSE 1.22835e-05 ENSE00001066314_028 ENSE00001066314 028 1 23779148 23779317 - 42 75 53 G A 23779305 743 13 GGGGCTGGATGCTGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 23452811 23452812 23452812 upstr_intron -41 -0.754716981132076 GGGGCTGGATGCTGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG mutant NA NA NA NA NA 13 371 1 1 1 0.997756956644105 1 0.998529028106284 0.993554086911246 NA NA 0.00147097189371626 0.00644591308875386 0.998878478322053 0.996041557508765 NA 0.00395844249123506 NA FALSE NA 0 -0.892 . intron_variant&NMD_transcript_variant MODIFIER ASAP3 HGNC 14987 ENST00000492982 3/24 rs373339203 1 NA A:0.0002 A:0 CGG G,A 5.766e-05 1:23452812 ASAP3 HGNC Symbol protein_coding 56005 ENSG00000088280 ENSE00003609137 intron_variant -0.224579 0.08115 0.0122 0.088506 0.797841541075807 0.126862 2.35907220968951e-10 FALSE 0.00010647 ENSE00001066314_BRK ENSE00001066314 BRK 1 23779148 23779317 - 42 75 53 A,G; T,T NA NA NA GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCTTATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGCCGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG 23452654 23452824 NA NA NA NA NA NA GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCTTATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGCCGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG GGGGCTGGATGCCGGTCACCTGAGGCGGGAATGAGCGTCTCTGTTTTTTCCAGATTCAGAACTTGAACAACATTGTCTCTTTCCCCCTGGACAGTCTGATGAAGGGGCAGCTGAGGGACGGTCGACAGGTGAGTCTCCATGCTGGGAGTGGTGGTGGGACAGAGTAAAAG control 31 79 0 0 0 440 101 0.0118696356323328 0.155380712095018 0.0836251738636756 0.997756956644105 1 0.998529028106284 0.993554086911246 -0.997756956644105 -1 -0.986659392473951 -0.838173374816228 0.998878478322053 0.996041557508765 -0.998878478322053 -0.912416383645089 0.0864620946769632 TRUE TRUE NA NA NA NA NA ASAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASAP3 NA NA NA ENSG00000088280 ENSE00003609137 NA NA NA NA NA NA NA 2.35907220968951e-10 FALSE NA ENSE00001066628_000 ENSE00001066628 000 1 3683048 3683217 + 51 78 41 NA NA NA NA NA CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 NA NA NA NA NA NA TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG natural 181 200 0.840861257595736 0.833408489966953 0.837134873781345 1578 2294 0.831981232985533 0.871627425529102 0.851804329257318 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 0 0 0 0 0.837134873781345 0.851804329257318 0 0 0 FALSE FALSE NA NA NA NA NA CCDC27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC27 NA NA NA ENSG00000162592 ENSE00003675549 NA NA NA NA NA NA NA 1.60569656764963e-19 FALSE NA ENSE00001066628_001 ENSE00001066628 001 1 3683048 3683217 + 51 78 41 C T 3683059 33 12 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGATTTAGATAACA 3766483 3766653 3766494 3766495 3766495 upstr_intron -40 -0.764705882352941 TGTTATCTAAATCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant 29 17 0.85 0.85 0.85 318 160 0.799372384726063 0.85027826038891 0.824825322557486 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 0.00913874240426393 0.0165915100330468 -0.0326088482594701 -0.0213491651401921 0.837134873781345 0.851804329257318 0.0128651262186554 -0.0269790066998311 0.0398441329184865 FALSE FALSE 0 0.114 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 8/11 1 NA ACC C,T 8.238e-06 1:3766495 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant -0.108926 0.13016 0.01439 0.078448 0.500164777009689 0.0536903 1.60569656764963e-19 FALSE 4.34412e-06 ENSE00001066628_002 ENSE00001066628 002 1 3683048 3683217 + 51 78 41 G A 3683064 34 17 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTTCCAGGTTTAGATAACA 3766483 3766653 3766499 3766500 3766500 upstr_intron -35 -0.666666666666667 TGTTATCTAAACCTGGAAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 83 92 0.8 0.850882316714892 0.825441158357446 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA -0.031981232985533 -0.0207451088142095 0.837134873781345 0.851804329257318 NA -0.0263631708998713 NA FALSE NA 0.001 0.275 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 8/11 1 NA GGA G,A 1.648e-05 1:3766500 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant 0.049401 0.18888 0.05499 0.078448 0.641220461426647 0.0536903 1.60569656764963e-19 FALSE 4.31824e-06 ENSE00001066628_003 ENSE00001066628 003 1 3683048 3683217 + 51 78 41 G C 3683075 35 28 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGGTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766510 3766511 3766511 upstr_intron -24 -0.450980392156863 TGTTATCTAAACCTGGGAGTCCCCCAACCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 43 98 0.991055280093006 0.95 0.970527640046503 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA 0.159074047107473 0.078372574470898 0.837134873781345 0.851804329257318 NA 0.118723310789185 NA FALSE NA 0.022 0.968 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 8/11 1 NA AGC G,C 8.241e-06 1:3766511 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant -0.24744 0.17967 0.03689 0.055982 0.385702938264794 0.0758613 1.60569656764963e-19 FALSE NA ENSE00001066628_004 ENSE00001066628 004 1 3683048 3683217 + 51 78 41 C T 3683081 36 34 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGAGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766516 3766517 3766517 upstr_intron -18 -0.333333333333333 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACTCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 780 70 0.994490954774763 1 0.997245477387381 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA 0.16250972178923 0.128372574470898 0.837134873781345 0.851804329257318 NA 0.145441148130064 NA FALSE NA 0 -0.473 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 8/11 rs377322714 1 NA T:0 T:0.0001 CCC C,T 8.241e-06 1:3766517 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant -0.215391 0.10445 0.00396 0.055982 0.32643755545279 0.127779 1.60569656764963e-19 FALSE NA ENSE00001066628_005 ENSE00001066628 005 1 3683048 3683217 + 51 78 41 C T 3683082 37 35 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAAGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766517 3766518 3766518 upstr_intron -17 -0.313725490196078 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCTTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 646 69 0.978094904506716 0.999446538364967 0.988770721435841 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA 0.146113671521183 0.127819112835865 0.837134873781345 0.851804329257318 NA 0.136966392178524 NA FALSE NA 0 -0.141 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 8/11 rs543118303 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCT C,T 6.593e-05 1:3766518 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant -0.317967 0.14758 0.00734 0.055982 0.377856445108605 0.127779 1.60569656764963e-19 FALSE NA ENSE00001066628_006 ENSE00001066628 006 1 3683048 3683217 + 51 78 41 C T 3683085 38 38 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAAAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766520 3766521 3766521 upstr_intron -14 -0.254901960784314 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTTTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 808 887 0.981598589183481 0.980679293331012 0.981138941257247 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA 0.149617356197948 0.10905186780191 0.837134873781345 0.851804329257318 NA 0.129334611999929 NA FALSE NA 0 0.041 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 8/11 rs368310478 1 NA T:0.0005 T:0.0007 TCT C,T 0.0004321 1:3766521 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant 0.062058 0.15429 0.0092 0.055982 0.510559430002406 0.2564 1.60569656764963e-19 FALSE 0.000430907 ENSE00001066628_007 ENSE00001066628 007 1 3683048 3683217 + 51 78 41 T C 3683090 39 43 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGGGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766525 3766526 3766526 upstr_intron -9 -0.156862745098039 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCCCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant 48 27 0 0 0 NA NA NA NA NA 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 -0.840861257595736 -0.833408489966953 NA NA 0.837134873781345 0.851804329257318 -0.837134873781345 NA NA NA TRUE 0.777 0.671 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 8/11 1 NA CTC T,C 1.647e-05 1:3766526 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant 0.379595 0.84991 0.2448 0.055982 0.578131835414805 0.531977 1.60569656764963e-19 FALSE NA ENSE00001066628_010 ENSE00001066628 010 1 3683048 3683217 + 51 78 41 G A 3683112 42 65 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTTGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766547 3766548 3766548 exon 14 0.179487179487179 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCAAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 21 325 0.8 0.813373671266609 0.806686835633305 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA -0.031981232985533 -0.0582537542624929 0.837134873781345 0.851804329257318 NA -0.045117493624013 NA FALSE NA 1 4.987 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/12 COSM3489073 1 NA CGA G,A 8.236e-06 1:3766548 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 missense_variant 6.761229 0.97687 0.90278 0.580535 0.999421025518987 0 1.60569656764963e-19 FALSE 1.22023e-05 ENSE00001066628_012 ENSE00001066628 012 1 3683048 3683217 + 51 78 41 T C 3683139 44 92 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCGTCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766574 3766575 3766575 exon -38 0.525641025641026 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGACGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 218 1277 0.886756945506235 0.97844535691038 0.932601151208307 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA 0.0547757125207016 0.106817931381278 0.837134873781345 0.851804329257318 NA 0.0807968219509899 NA FALSE NA 1 1.212 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/12 1 NA ATG T,C 8.237e-06 1:3766575 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 missense_variant 2.016014 0.95161 0.60558 0.580535 0.985110613002609 0 1.60569656764963e-19 FALSE NA ENSE00001066628_013 ENSE00001066628 013 1 3683048 3683217 + 51 78 41 A C 3683159 45 112 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTGGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766594 3766595 3766595 exon -18 0.782051282051282 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACCACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant 37 40 0.900928623258075 0.85 0.875464311629038 761 258 0.971126838228504 0.946643290336422 0.958885064282463 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 0.0600673656623392 0.0165915100330468 0.139145605242971 0.0750158648073197 0.837134873781345 0.851804329257318 0.038329437847693 0.107080735025145 0.0687512971774522 FALSE FALSE 1 4.718 rs144089943 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/12 rs144089943 1 C:0.0096 C:0 C:0.0043 NA C:0 C:0.008 C:0.0378 C:0.0002 C:0.0056 CAA A,C 0.008838 1:3766595 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 missense_variant 4.473858 0.96959 0.90596 0.580535 0.995137919938221 0 1.60569656764963e-19 FALSE 0.00852377 ENSE00001066628_014 ENSE00001066628 014 1 3683048 3683217 + 51 78 41 G A 3683172 46 125 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGTTGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766607 3766608 3766608 exon -5 0.948717948717949 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCAACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant 204 274 0.85 0.85 0.85 NA NA NA NA NA 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 0.00913874240426393 0.0165915100330468 NA NA 0.837134873781345 0.851804329257318 0.0128651262186554 NA NA NA FALSE 1 3.434 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/12 COSM908895 1 NA CGA G,A 5.765e-05 1:3766608 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 missense_variant 4.068212 0.97758 0.86513 0.646311 0.999422168194104 0 1.60569656764963e-19 FALSE 7.73024e-05 ENSE00001066628_015 ENSE00001066628 015 1 3683048 3683217 + 51 78 41 A G 3683173 47 126 CAGTGGCCTGGCTGATCATTTAACGACACCCAGGCTGTCACCTGCCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766608 3766609 3766609 exon -4 0.961538461538462 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGGCAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant 25 53 0 0 0 NA NA NA NA NA 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 -0.840861257595736 -0.833408489966953 NA NA 0.837134873781345 0.851804329257318 -0.837134873781345 NA NA NA TRUE 1 1.103 rs146467132 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/12 rs146467132 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0009 G:0 GAC A,G 5.765e-05 1:3766609 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 synonymous_variant 0.256809 0.94267 0.50455 0.646311 0.619882960910447 0 1.60569656764963e-19 FALSE 6.10143e-05 ENSE00001066628_017 ENSE00001066628 017 1 3683048 3683217 + 51 78 41 G A 3683188 49 141 CAGTGGCCTGGCTGATCATTTAACGACACTCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766623 3766624 3766624 downstr_intron 12 1.3 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGAGTGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 199 4023 0.992969304207508 0.974369296290361 0.983669300248934 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA 0.160988071221974 0.102741870761259 0.837134873781345 0.851804329257318 NA 0.131864970991617 NA FALSE NA 0.002 0.478 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/11 1 NA GGG G,A 8.236e-06 1:3766624 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant 0.080181 0.15543 0.02506 0.090766 0.280100732755371 0.142558 1.60569656764963e-19 FALSE NA ENSE00001066628_018 ENSE00001066628 018 1 3683048 3683217 + 51 78 41 T A 3683190 50 143 CAGTGGCCTGGCTGATCATTTAACGACTCCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766625 3766626 3766626 downstr_intron 14 1.35 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGAGTCGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 137 517 0.912325208016616 0.985393920784753 0.948859564400685 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA 0.0803439750310834 0.113766495255651 0.837134873781345 0.851804329257318 NA 0.0970552351433672 NA FALSE NA 0 -0.348 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/11 1 NA GTG T,A 8.236e-06 1:3766626 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant 0.237658 0.1242 0.0104 0.090766 0.39621491966128 0.169632 1.60569656764963e-19 FALSE 4.08664e-06 ENSE00001066628_019 ENSE00001066628 019 1 3683048 3683217 + 51 78 41 C T 3683193 51 146 CAGTGGCCTGGCTGATCATTTAACAACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766628 3766629 3766629 downstr_intron 17 1.425 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTTGTTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 89 46 0.904154673107379 0.757857134191734 0.831005903649556 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA 0.0721734401218458 -0.113770291337368 0.837134873781345 0.851804329257318 NA -0.0207984256077614 NA FALSE NA 0 -1.035 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/11 rs374880789 1 NA A:0 A:0.0001 TCG C,T 1.647e-05 1:3766629 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant -0.139687 0.10275 0.00114 0.090766 0.38779370794055 0.169632 1.60569656764963e-19 FALSE 1.22633e-05 ENSE00001066628_020 ENSE00001066628 020 1 3683048 3683217 + 51 78 41 G A 3683194 52 147 CAGTGGCCTGGCTGATCATTTAATGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766629 3766630 3766630 downstr_intron 18 1.45 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCATTAAATGATCAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 718 83 0.830594846207416 0.806055890792561 0.818325368499988 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA -0.00138638677811698 -0.0655715347365414 0.837134873781345 0.851804329257318 NA -0.0334789607573292 NA FALSE NA 0 -0.002 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/11 1 NA CGT G,A 9.06e-05 1:3766630 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant -0.260246 0.14753 0.00871 0.090766 0.329304460177858 0.169632 1.60569656764963e-19 FALSE 8.18478e-05 ENSE00001066628_021 ENSE00001066628 021 1 3683048 3683217 + 51 78 41 C T 3683204 53 157 CAGTGGCCTGGCTAATCATTTAACGACACCCAGGCTGTCACCTGTCGGAGGAGCTGGTTGTCCTTTTCAATGAGCCCCATCATCTCTTGGTGTTTCTTATCTTCTCGGAGGTTGGAGAACTGGAAGGAGACAGAAGGGTTGGCTTGGGGGACTCCCAGGTTTAGATAACA 3766483 3766653 3766639 3766640 3766640 downstr_intron 28 1.7 TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATTAGCCAGGCCACTG TGTTATCTAAACCTGGGAGTCCCCCAAGCCAACCCTTCTGTCTCCTTCCAGTTCTCCAACCTCCGAGAAGATAAGAAACACCAAGAGATGATGGGGCTCATTGAAAAGGACAACCAGCTCCTCCGACAGGTGACAGCCTGGGTGTCGTTAAATGATCAGCCAGGCCACTG mutant NA NA NA NA NA 282 429 0.804561603923924 0.8 0.802280801961962 0.840861257595736 0.833408489966953 0.831981232985533 0.871627425529102 NA NA -0.027419629061609 -0.071627425529102 0.837134873781345 0.851804329257318 NA -0.0495235272953555 NA FALSE NA 0 0.04 . intron_variant&NMD_transcript_variant MODIFIER CCDC27 HGNC 26546 ENST00000462521 9/11 rs374173047 1 NA T:0.0002 T:0 TCA C,T 8.237e-06 1:3766640 CCDC27 HGNC Symbol protein_coding 25185 ENSG00000162592 ENSE00003675549 intron_variant 0.090651 0.14083 0.01458 0 0.485702128612759 0.142699 1.60569656764963e-19 FALSE 4.11682e-06 ENSE00001066716_000 ENSE00001066716 000 1 58992891 58993060 - 42 75 53 NA NA NA NA NA TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG 58527218 58527388 NA NA NA NA NA NA TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG natural NA NA NA NA NA 122 260 0.994937006865676 0.997773744533151 0.996355375699413 NA NA 0.994937006865676 0.997773744533151 NA NA 0 0 NA 0.996355375699413 NA 0 NA FALSE NA NA NA NA NA NA OMA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OMA1 NA NA NA ENSG00000162600 ENSE00003589509 NA NA NA NA NA NA NA 3.51132911001781e-09 FALSE NA ENSE00001066757_000 ENSE00001066757 000 1 62516594 62516763 + 44 93 33 NA NA NA NA NA GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 NA NA NA NA NA NA GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC natural 80 123 0.994021239345684 0.989998941133723 0.992010090239704 5030 6791 0.890534194670653 0.931529748429711 0.911031971550182 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 0 0 0 0 0.992010090239704 0.911031971550182 0 0 0 FALSE FALSE NA NA NA NA NA INADL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PATJ NA NA NA ENSG00000132849 ENSE00003571618 NA NA NA NA NA NA NA NA NA NA ENSE00001066757_001 ENSE00001066757 001 1 62516594 62516763 + 44 93 33 A T 62516604 2082 11 GTGAAGAATGTCATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050931 62050932 62050932 upstr_intron -34 -0.75 GTGAAGAATGTCATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 404 1218 0.998358666960725 0.999812307967868 0.999085487464296 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.107824472290072 0.0682825595381564 0.992010090239704 0.911031971550182 NA 0.0880535159141143 NA FALSE NA 0.557 3.774 . intron_variant MODIFIER INADL HGNC 28881 ENST00000371158 30/42 rs369666317 1 NA T:0.0002 T:0 GAC A,T 1.647e-05 1:62050932 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 intron_variant 0.727219 0.6263 0.69716 0.080754 0.812133440646857 0.904084 NA NA 4.13774e-06 ENSE00001066757_003 ENSE00001066757 003 1 62516594 62516763 + 44 93 33 T A 62516617 2084 24 GTGAAGAATGACATCTTTGCCATATTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050944 62050945 62050945 upstr_intron -21 -0.454545454545455 GTGAAGAATGACATCTTTGCCATATTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant 20 10 1 1 1 1412 1306 0.998208438645032 0.995447045598245 0.996827742121638 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 0.00597876065431613 0.0100010588662766 0.107674243974378 0.0639172971685341 0.992010090239704 0.911031971550182 0.00798990976029634 0.0857957705714562 0.0778058608111598 FALSE FALSE 0 -0.38 . intron_variant MODIFIER INADL HGNC 28881 ENST00000371158 30/42 1 NA TTT T,A 2.471e-05 1:62050945 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 intron_variant 0.587298 0.24377 0.08015 0.080754 0.71943439184353 0.046875 NA NA 1.23239e-05 ENSE00001066757_004 ENSE00001066757 004 1 62516594 62516763 + 44 93 33 T C 62516623 2085 30 GTGAAGAATGACATCTTTGCCATTTTCTTCTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050950 62050951 62050951 upstr_intron -15 -0.318181818181818 GTGAAGAATGACATCTTTGCCATTTTCTTCTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 101 753 1 1 1 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0684702515702887 0.992010090239704 0.911031971550182 NA 0.0889680284498177 NA FALSE NA 0.001 0.621 . intron_variant MODIFIER INADL HGNC 28881 ENST00000371158 30/42 1 NA TTT T,C 8.236e-06 1:62050951 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 intron_variant -0.195567 0.18344 0.03616 0.164513 0.382059832057233 0.046875 NA NA 4.09366e-06 ENSE00001066757_005 ENSE00001066757 005 1 62516594 62516763 + 44 93 33 T C 62516624 2086 31 GTGAAGAATGACATCTTTGCCATTTTCTTTCTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050951 62050952 62050952 upstr_intron -14 -0.295454545454545 GTGAAGAATGACATCTTTGCCATTTTCTTTCTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 379 103 1 0.998461422197477 0.999230711098738 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0669316737677657 0.992010090239704 0.911031971550182 NA 0.0881987395485562 NA FALSE NA 0 -0.123 . intron_variant MODIFIER INADL HGNC 28881 ENST00000371158 30/42 1 NA TTT T,C 8.236e-06 1:62050952 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 intron_variant -0.105791 0.18618 0.05051 0.080754 0.379820308976301 0.046875 NA NA 4.09266e-06 ENSE00001066757_006 ENSE00001066757 006 1 62516594 62516763 + 44 93 33 C T 62516628 2087 35 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAATGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050955 62050956 62050956 upstr_intron -10 -0.204545454545455 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAATGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 2453 1077 0.996984517650169 0.999071054866727 0.998027786258448 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.106450322979516 0.0675413064370158 0.992010090239704 0.911031971550182 NA 0.0869958147082658 NA FALSE NA 0.021 0.704 . intron_variant MODIFIER INADL HGNC 28881 ENST00000371158 30/42 1 NA ACG C,T 8.236e-06 1:62050956 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 intron_variant -0.206028 0.10325 3e-04 0.164513 0.645401404270599 0.0905899 NA NA 8.17354e-06 ENSE00001066757_007 ENSE00001066757 007 1 62516594 62516763 + 44 93 33 G A 62516629 2088 36 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACATTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050956 62050957 62050957 upstr_intron -9 -0.181818181818182 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACATTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 283 2022 0.996053909794631 0.968801894543483 0.982427902169057 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.105519715123978 0.0372721461137716 0.992010090239704 0.911031971550182 NA 0.0713959306188747 NA FALSE NA 0.024 1.115 . intron_variant MODIFIER INADL HGNC 28881 ENST00000371158 30/42 rs529453313 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 CGT G,A 9.06e-05 1:62050957 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 intron_variant 0.150103 0.23788 0.09555 0.164513 0.548796254940637 0.0935972 NA NA 8.15654e-05 ENSE00001066757_008 ENSE00001066757 008 1 62516594 62516763 + 44 93 33 C G 62516632 2089 39 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTGCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050959 62050960 62050960 upstr_intron -6 -0.113636363636364 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTGCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 575 246 0.99892145873883 1 0.999460729369415 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.108387264068176 0.0684702515702887 0.992010090239704 0.911031971550182 NA 0.0884287578192326 NA FALSE NA 0 -0.074 . splice_region_variant&intron_variant LOW INADL HGNC 28881 ENST00000371158 30/42 1 NA TCC C,G 8.236e-06 1:62050960 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 splice_region_variant 0.238293 0.22843 0.09732 0.164513 0.294878141012582 0.0905899 NA NA 8.14969e-06 ENSE00001066757_009 ENSE00001066757 009 1 62516594 62516763 + 44 93 33 C T 62516633 2090 40 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCTATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050960 62050961 62050961 upstr_intron -5 -0.0909090909090909 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCTATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant 14 27 0.967582445204515 0.994746269991668 0.981164357598091 1630 942 0.994343570554883 0.989529740724424 0.991936655639654 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 -0.0264387941411692 0.0047473288579446 0.10380937588423 0.0579999922947129 0.992010090239704 0.911031971550182 -0.0108457326416123 0.0809046840894714 0.0917504167310837 FALSE FALSE 0 -0.907 . splice_region_variant&intron_variant LOW INADL HGNC 28881 ENST00000371158 30/42 1 NA CCA C,T 8.236e-06 1:62050961 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 splice_region_variant 0.374563 0.17546 0.02008 0.164513 0.429584152658125 0.0881274 NA NA 1.22264e-05 ENSE00001066757_010 ENSE00001066757 010 1 62516594 62516763 + 44 93 33 A G 62516634 2091 41 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCGTAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050961 62050962 62050962 upstr_intron -4 -0.0681818181818182 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCGTAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 1684 685 0.999706376230631 0.999769051237076 0.999737713733853 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109172181559978 0.0682393028073646 0.992010090239704 0.911031971550182 NA 0.0887057421836711 NA FALSE NA 0 -4.304 . splice_region_variant&intron_variant LOW INADL HGNC 28881 ENST00000371158 30/42 1 NA CAT A,G 1.647e-05 1:62050962 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 splice_region_variant -0.880472 0.04328 0.00179 0.164513 0.604820973801131 0.0938726 NA NA 1.22184e-05 ENSE00001066757_011 ENSE00001066757 011 1 62516594 62516763 + 44 93 33 T C 62516635 2092 42 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCACAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050962 62050963 62050963 upstr_intron -3 -0.0454545454545455 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCACAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 2576 603 0.99650818329291 0.877623964881441 0.937066074087175 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.105973988622257 -0.0539057835482707 0.992010090239704 0.911031971550182 NA 0.0260341025369931 NA FALSE NA 0.122 0.106 . splice_region_variant&intron_variant LOW INADL HGNC 28881 ENST00000371158 30/42 1 NA ATA T,C 8.236e-06 1:62050963 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 splice_region_variant 0.284633 0.25902 0.01409 0.164513 0.480006076168034 0.103786 NA NA 4.07325e-06 ENSE00001066757_012 ENSE00001066757 012 1 62516594 62516763 + 44 93 33 A T 62516644 2093 51 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGTGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050971 62050972 62050972 exon 7 0.0752688172043011 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGTGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 91 2231 1 0.962153421868089 0.981076710934044 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0306236734383776 0.992010090239704 0.911031971550182 NA 0.0700447393838621 NA FALSE NA 1 1.798 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 rs373486800 1 deleterious(0.04) benign(0.021) NA T:0.0002 T:0 GAG A,T 8.236e-06 1:62050972 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 1.812607 0.9713 0.67857 0.706298 0.907976496254088 0 NA NA 4.06567e-06 ENSE00001066757_013 ENSE00001066757 013 1 62516594 62516763 + 44 93 33 C T 62516646 2094 53 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGTGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050973 62050974 62050974 exon 9 0.0967741935483871 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGTGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant 12 12 0.998396249949082 0.85 0.924198124974541 93 1202 0.994101508665562 0.999482560996306 0.996792034830934 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 0.00437501060339862 -0.139998941133723 0.103567313994909 0.0679528125665949 0.992010090239704 0.911031971550182 -0.0678119652651624 0.085760063280752 0.153572028545914 FALSE FALSE 0.194 -0.525 . synonymous_variant LOW INADL HGNC 28881 ENST00000371158 31/43 rs376397751 1 NA T:0 T:0.0001 GCG C,T 5.765e-05 1:62050974 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 synonymous_variant 1.652725 0.41221 0.01114 0.706298 0.526033943197267 0 NA NA 3.25349e-05 ENSE00001066757_014 ENSE00001066757 014 1 62516594 62516763 + 44 93 33 G A 62516647 2095 54 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCAGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050974 62050975 62050975 exon 10 0.10752688172043 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCAGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 569 510 1 0.999099488196324 0.999549744098162 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0675697397666124 0.992010090239704 0.911031971550182 NA 0.0885177725479795 NA FALSE NA 0.21 0.278 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 1 tolerated(0.18) benign(0.055) NA CGG G,A 2.471e-05 1:62050975 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 1.243909 0.57332 0.18418 0.706298 0.964244184204716 0 NA NA 1.62648e-05 ENSE00001066757_015 ENSE00001066757 015 1 62516594 62516763 + 44 93 33 C G 62516651 2096 58 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCAGCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050978 62050979 62050979 exon 14 0.150537634408602 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCAGCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 321 688 1 0.982037933143188 0.991018966571594 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0505081847134766 0.992010090239704 0.911031971550182 NA 0.0799869950214117 NA FALSE NA 0.003 2.114 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 1 tolerated(0.53) benign(0.009) NA ACC C,G 8.236e-06 1:62050979 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 0.043419 0.30338 0.15171 0.706298 0.355025468843871 0 NA NA 4.06474e-06 ENSE00001066757_016 ENSE00001066757 016 1 62516594 62516763 + 44 93 33 C T 62516652 2097 59 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACTGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050979 62050980 62050980 exon 15 0.161290322580645 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACTGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 384 819 1 0.99758681749197 0.998793408745985 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0660570690622591 0.992010090239704 0.911031971550182 NA 0.0877614371958029 NA FALSE NA 0 -6.114 . synonymous_variant LOW INADL HGNC 28881 ENST00000371158 31/43 rs370259407 1 NA T:0.0005 T:0 CCG C,T 6.589e-05 1:62050980 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 synonymous_variant 0.983122 0.05146 0.00175 0.706298 0.643643175133296 0 NA NA 6.09746e-05 ENSE00001066757_017 ENSE00001066757 017 1 62516594 62516763 + 44 93 33 C T 62516656 2098 63 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAATCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050983 62050984 62050984 exon 19 0.204301075268817 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAATCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 775 1196 0.936130261288717 0.998813897251837 0.967472079270277 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.0455960666180638 0.0672841488221256 0.992010090239704 0.911031971550182 NA 0.0564401077200947 NA FALSE NA 0.025 1.225 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 rs373707975 1 tolerated(0.42) benign(0.097) NA T:0 T:0.0001 ACC C,T 4.118e-05 1:62050984 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 0.090524 0.24273 0.06378 0.706298 0.476713565706047 0 NA NA 3.25169e-05 ENSE00001066757_019 ENSE00001066757 019 1 62516594 62516763 + 44 93 33 A G 62516662 2100 69 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTGGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050989 62050990 62050990 exon 25 0.268817204301075 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTGGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant 25 13 0.996912770990835 1 0.998456385495417 19 352 1 0.997807939774044 0.998903969887022 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 0.00289153164515077 0.0100010588662766 0.109465805329347 0.0662781913443332 0.992010090239704 0.911031971550182 0.00644629525571366 0.08787199833684 0.0814257030811263 FALSE FALSE 0.109 0.685 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 1 tolerated(0.15) benign(0.008) NA TAG A,G 2.471e-05 1:62050990 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 0.033723 0.21397 0.0582 0.706298 0.89618427640038 0 NA NA 1.21924e-05 ENSE00001066757_020 ENSE00001066757 020 1 62516594 62516763 + 44 93 33 T C 62516664 2101 71 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGCAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050991 62050992 62050992 exon 27 0.290322580645161 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGCAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 1016 305 0.955549150359417 0.887093721284491 0.921321435821954 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.0650149556887636 -0.0444360271452204 0.992010090239704 0.911031971550182 NA 0.0102894642717716 NA FALSE NA 0.269 0.053 rs149125687 synonymous_variant LOW INADL HGNC 28881 ENST00000371158 31/43 rs149125687 1 C:0.0010 C:0.003 C:0.0014 NA C:0 C:0 C:0 C:0.0018 C:0 GTA T,C 0.0002306 1:62050992 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 synonymous_variant 0.149395 0.2401 0.03803 0.706298 0.575990152163412 0 NA NA 0.000215405 ENSE00001066757_021 ENSE00001066757 021 1 62516594 62516763 + 44 93 33 A G 62516665 2102 72 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTGGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62050992 62050993 62050993 exon 28 0.301075268817204 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTGGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 1020 215 0.994867494256823 1 0.997433747128412 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.10433329958617 0.0684702515702887 0.992010090239704 0.911031971550182 NA 0.0864017755782294 NA FALSE NA 0.286 0.192 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 rs375573695 1 tolerated(0.32) benign(0.003) NA G:0.0007 G:0 TAG A,G 4.942e-05 1:62050993 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 0.56924 0.34894 0.07347 0.706298 0.98631449953011 0 NA NA 6.09598e-05 ENSE00001066757_022 ENSE00001066757 022 1 62516594 62516763 + 44 93 33 T C 62516676 2103 83 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGACGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051003 62051004 62051004 exon 39 0.419354838709677 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGACGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 422 1363 1 0.993799859005616 0.996899929502808 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0622701105759044 0.992010090239704 0.911031971550182 NA 0.0858679579526255 NA FALSE NA 0 -0.813 . synonymous_variant LOW INADL HGNC 28881 ENST00000371158 31/43 1 NA ATG T,C 8.236e-06 1:62051004 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 synonymous_variant -0.54952 0.09762 0.00405 0.706298 0.346383969422464 0 NA NA 8.12704e-06 ENSE00001066757_023 ENSE00001066757 023 1 62516594 62516763 + 44 93 33 G A 62516678 2104 85 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGACAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051005 62051006 62051006 exon 41 0.440860215053763 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGACAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 47 219 0.957444090300902 0.999826035600712 0.978635062950807 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.0669098956302486 0.0682962871710004 0.992010090239704 0.911031971550182 NA 0.0676030914006245 NA FALSE NA 0 0.07 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 1 tolerated(0.3) benign(0.097) NA GGC G,A 3.295e-05 1:62051006 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 0.505998 0.21149 0.03499 0.706298 0.943303043894308 0 NA NA 2.03186e-05 ENSE00001066757_024 ENSE00001066757 024 1 62516594 62516763 + 44 93 33 C T 62516682 2105 89 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGTGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051009 62051010 62051010 exon 45 0.483870967741935 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGTGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 1742 805 0.986429602135846 0.999606872454078 0.993018237294962 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.0958954074651923 0.0680771240243668 0.992010090239704 0.911031971550182 NA 0.0819862657447796 NA FALSE NA 0 -0.621 rs117473132 synonymous_variant LOW INADL HGNC 28881 ENST00000371158 31/43 rs117473132 1 T:0.0016 T:0 T:0 NA T:0.0079 T:0 T:0 T:0 T:0.0001 GCG C,T 0.0005683 1:62051010 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 synonymous_variant 1.493847 0.11045 0.00201 0.706298 0.478947834789769 0 NA NA 0.000528305 ENSE00001066757_025 ENSE00001066757 025 1 62516594 62516763 + 44 93 33 G C 62516683 2106 90 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051010 62051011 62051011 exon 46 0.494623655913978 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 747 178 0.995039442898904 0.999785911304409 0.997412677101657 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.104505248228251 0.0682561628746979 0.992010090239704 0.911031971550182 NA 0.0863807055514743 NA FALSE NA 0 -0.401 rs2498982 missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 rs2498982&COSM146531 1 tolerated(1) benign(0) G:0.4291 C:0.767 C:0.5591 NA C:0.2778 C:0.5467 C:0.6411 C:0.7081 C:0.5552 CGT C,C 0.554 1:62051011 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant -0.717458 0.11804 0.00179 0.706298 0.203890910372371 0 NA NA 0.548293 ENSE00001066757_027 ENSE00001066757 027 1 62516594 62516763 + 44 93 33 G A 62516686 2108 93 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCAAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051013 62051014 62051014 exon -45 0.526881720430108 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCAAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 287 1696 1 0.964908634332386 0.982454317166193 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0333788859026746 0.992010090239704 0.911031971550182 NA 0.0714223456160106 NA FALSE NA 0.625 2.855 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 rs570517908&COSM3865946&COSM3865947 1 tolerated(0.17) benign(0.01) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 1.647e-05 1:62051014 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 1.064022 0.3722 0.60748 0.706298 0.907155944943567 0 NA NA 1.2193e-05 ENSE00001066757_028 ENSE00001066757 028 1 62516594 62516763 + 44 93 33 G C 62516693 2109 100 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGCTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051020 62051021 62051021 exon -38 0.602150537634409 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGCTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 4005 1265 0.995870196727905 0.999969910010599 0.997920053369252 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.105336002057251 0.0684401615808874 0.992010090239704 0.911031971550182 NA 0.0868880818190694 NA FALSE NA 0 0.111 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 1 tolerated(0.86) benign(0.027) NA GGT G,C 1.647e-05 1:62051021 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant -0.238027 0.30595 0.06063 0.706298 0.258797478157791 0 NA NA 1.21948e-05 ENSE00001066757_029 ENSE00001066757 029 1 62516594 62516763 + 44 93 33 A G 62516702 2110 109 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACGATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051029 62051030 62051030 exon -29 0.698924731182796 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACGATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 1007 883 1 0.998822001302194 0.999411000651097 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0672922528724827 0.992010090239704 0.911031971550182 NA 0.0883790291009147 NA FALSE NA 0.005 -0.201 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 1 tolerated(0.36) benign(0.097) NA CAA A,G 3.295e-05 1:62051030 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 0.06463 0.24523 0.03473 0.706298 0.97184283885696 0 NA NA 2.44043e-05 ENSE00001066757_030 ENSE00001066757 030 1 62516594 62516763 + 44 93 33 A T 62516703 2111 110 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACATTTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051030 62051031 62051031 exon -28 0.709677419354839 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACATTTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 78 272 1 0.992751236732335 0.996375618366168 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0612214883026242 0.992010090239704 0.911031971550182 NA 0.0853436468159854 NA FALSE NA 0 -0.924 NA NA NA INADL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:62051031 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 0.425146 0.16716 0.01852 0.706298 0.908797365479981 0 NA NA 6.10014e-05 ENSE00001066757_032 ENSE00001066757 032 1 62516594 62516763 + 44 93 33 A G 62516711 2113 118 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGGAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051038 62051039 62051039 exon -20 0.795698924731183 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGGAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 474 557 1 1 1 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0684702515702887 0.992010090239704 0.911031971550182 NA 0.0889680284498177 NA FALSE NA 0.704 1.243 . missense_variant MODERATE INADL HGNC 28881 ENST00000371158 31/43 1 deleterious(0.05) benign(0.005) NA GAA A,G 8.237e-06 1:62051039 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 missense_variant 1.272251 0.29536 0.29807 0.706298 0.98430912782452 0 NA NA 1.22107e-05 ENSE00001066757_033 ENSE00001066757 033 1 62516594 62516763 + 44 93 33 C T 62516721 2114 128 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGTTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 62051048 62051049 62051049 exon -10 0.903225806451613 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGTTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 943 349 0.869466418179357 0.999546571763102 0.93450649497123 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA -0.021067776491296 0.0680168233333911 0.992010090239704 0.911031971550182 NA 0.0234745234210476 NA FALSE NA 0.008 0.787 . synonymous_variant LOW INADL HGNC 28881 ENST00000371158 31/43 1 NA GCT C,T 8.237e-06 1:62051049 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 synonymous_variant 1.039545 0.25051 0.05339 0.706298 0.549907105985224 0 NA NA 4.07578e-06 ENSE00001066757_034 ENSE00001066757 034 1 62516594 62516763 + 44 93 33 A G 62516743 2115 150 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGGGTATTTTTCATCCTGTATTC 62050921 62051091 62051070 62051071 62051071 downstr_intron 13 1.40625 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGGGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 472 221 1 1 1 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.109465805329347 0.0684702515702887 0.992010090239704 0.911031971550182 NA 0.0889680284498177 NA FALSE NA 0 -0.409 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:62051071 PATJ HGNC Symbol protein_coding 436269 ENSG00000132849 ENSE00003571618 intron_variant 0.294921 0.12923 0.0032 0.053691 0.564038159994029 0.0838903 NA NA 8.25825e-06 ENSE00001066757_035 ENSE00001066757 035 1 62516594 62516763 + 44 93 33 A C 62516743 2116 150 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGCGTATTTTTCATCCTGTATTC 62050921 62051091 62051070 62051071 62051071 downstr_intron 13 1.40625 GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGCGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC mutant NA NA NA NA NA 668 842 0.991608676899803 0.996296356998505 0.993952516949154 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 NA NA 0.101074482229149 0.064766608568794 0.992010090239704 0.911031971550182 NA 0.0829205453989718 NA FALSE NA 0 -0.409 NA NA NA INADL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PATJ NA NA NA ENSG00000132849 ENSE00003571618 intron_variant 0.069391 0.17095 0.00512 0.053691 0.591964049392162 0.0838903 NA NA 4.12913e-06 ENSE00001066757_BRK ENSE00001066757 BRK 1 62516594 62516763 + 44 93 33 A,G; T,T NA NA NA GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATTTGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGCCGAGAATCTTGAGTATTTTTCATCCTGTATTC 62050921 62051091 NA NA NA NA NA NA GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATTTGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGCCGAGAATCTTGAGTATTTTTCATCCTGTATTC GTGAAGAATGACATCTTTGCCATTTTCTTTTTAACGTTCCATAGGATCAGAGCGGCACCGAACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGTGAGAATCTTGAGTATTTTTCATCCTGTATTC control 85 86 0 0 0 705 447 0.00733970091842791 0 0.00366985045921396 0.994021239345684 0.989998941133723 0.890534194670653 0.931529748429711 -0.994021239345684 -0.989998941133723 -0.883194493752225 -0.931529748429711 0.992010090239704 0.911031971550182 -0.992010090239704 -0.907362121090968 0.0846479691487353 TRUE TRUE NA NA NA NA NA INADL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PATJ NA NA NA ENSG00000132849 ENSE00003571618 NA NA NA NA NA NA NA NA NA NA ENSE00001067244_000 ENSE00001067244 000 1 85563205 85563374 + 47 87 36 NA NA NA NA NA TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT 85097521 85097691 NA NA NA NA NA NA TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT natural NA NA NA NA NA 2096 3759 0.949613896076816 0.878025146963698 0.913819521520257 NA NA 0.949613896076816 0.878025146963698 NA NA 0 0 NA 0.913819521520257 NA 0 NA FALSE NA NA NA NA NA NA WDR63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR63 NA NA NA ENSG00000162643 ENSE00003528303 NA NA NA NA NA NA NA 0.000118222164733869 FALSE NA ENSE00001067244_002 ENSE00001067244 002 1 85563205 85563374 + 47 87 36 T C 85563231 2190 27 AAAAAACTTGCAAGTGAAATGTTGTAAAAAGCTTACCTTCAGTGTGGCTCTTTTACTTCTACTACCACCTGCCTTAATGTTTTCTATGCGATCTGCATGTGCGGTGATATCCCACATGACAATCTAAAATGGAAATAAATGTTGTCATAACCTTTTCAGAAAATATCTAA 85097521 85097691 85097547 85097548 85097548 upstr_intron -21 -0.425531914893617 TTAGATATTTTCTGAAAAGGTTATGACAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 19 652 1 0.997443696586676 0.998721848293338 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0503861039231843 0.119418549622978 NA 0.913819521520257 NA 0.084902326773081 NA FALSE NA 0.002 0.649 . intron_variant MODIFIER WDR63 HGNC 30711 ENST00000326813 10/21 1 NA ATA T,C 8.238e-06 1:85097548 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 intron_variant 0.1132 0.2178 0.02068 0.074636 0.580270971917673 0.152421 0.000118222164733869 FALSE 4.52501e-06 ENSE00001067244_004 ENSE00001067244 004 1 85563205 85563374 + 47 87 36 C T 85563244 2192 40 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCTATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT 85097521 85097691 85097560 85097561 85097561 upstr_intron -8 -0.148936170212766 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCTATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 932 212 0.999734762791468 1 0.999867381395734 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0501208667146523 0.121974853036302 NA 0.913819521520257 NA 0.0860478598754771 NA FALSE NA 0.001 0.49 . splice_region_variant&intron_variant LOW WDR63 HGNC 30711 ENST00000326813 10/21 1 NA CCA C,T 2.471e-05 1:85097561 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 splice_region_variant -0.120461 0.09651 0.00029 0.074636 0.402724376349654 0.213527 0.000118222164733869 FALSE 1.32148e-05 ENSE00001067244_007 ENSE00001067244 007 1 85563205 85563374 + 47 87 36 A T 85563277 2195 73 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACTTGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT 85097521 85097691 85097593 85097594 85097594 exon 26 0.298850574712644 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACTTGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 263 40 1 1 1 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0503861039231843 0.121974853036302 NA 0.913819521520257 NA 0.0861804784797431 NA FALSE NA 0.259 4.338 . missense_variant MODERATE WDR63 HGNC 30711 ENST00000326813 11/22 rs537726025 1 deleterious(0.01) possibly_damaging(0.71) NA CAT A,T 8.237e-06 1:85097594 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 missense_variant 3.313793 0.3147 0.43348 0.549168 0.951128709999326 0 0.000118222164733869 FALSE 4.07844e-06 ENSE00001067244_008 ENSE00001067244 008 1 85563205 85563374 + 47 87 36 G C 85563282 2196 78 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCACATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT 85097521 85097691 85097598 85097599 85097599 exon 31 0.35632183908046 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCACATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 788 44 0.995474508548245 1 0.997737254274123 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0458606124714297 0.121974853036302 NA 0.913819521520257 NA 0.0839177327538658 NA FALSE NA 0.166 2.172 . missense_variant MODERATE WDR63 HGNC 30711 ENST00000326813 11/22 rs370317049 1 deleterious(0.01) probably_damaging(0.914) NA C:0 C:0.0002 AGA G,C 8.237e-05 1:85097599 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 missense_variant 4.677494 0.94381 0.79466 0.549168 0.99403779614627 0 0.000118222164733869 FALSE 4.485e-05 ENSE00001067244_009 ENSE00001067244 009 1 85563205 85563374 + 47 87 36 C T 85563285 2197 81 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATTGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT 85097521 85097691 85097601 85097602 85097602 exon 34 0.390804597701149 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATTGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 220 123 0.983578303446489 0.979382909521408 0.981480606483948 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0339644073696733 0.10135776255771 NA 0.913819521520257 NA 0.0676610849636914 NA FALSE NA 0.873 1.791 . missense_variant MODERATE WDR63 HGNC 30711 ENST00000326813 11/22 1 deleterious(0) benign(0.237) NA TCG C,T 3.295e-05 1:85097602 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 missense_variant 4.251383 0.87177 0.79002 0.549168 0.999094096863625 0 0.000118222164733869 FALSE 5.7099e-05 ENSE00001067244_013 ENSE00001067244 013 1 85563205 85563374 + 47 87 36 A T 85563297 2201 93 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACTTTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT 85097521 85097691 85097613 85097614 85097614 exon -42 0.528735632183908 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACTTTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 457 1625 0.995689165399184 0.995519897725218 0.995604531562201 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0460752693223682 0.117494750761519 NA 0.913819521520257 NA 0.0817850100419438 NA FALSE NA 0.047 0.809 . missense_variant MODERATE WDR63 HGNC 30711 ENST00000326813 11/22 rs202041938&COSM2243921 1 tolerated(0.07) benign(0.308) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CAT A,T 8.237e-06 1:85097614 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 missense_variant 1.039636 0.61147 0.28445 0.549168 0.909209116402815 0 0.000118222164733869 FALSE 1.2238e-05 ENSE00001067244_014 ENSE00001067244 014 1 85563205 85563374 + 47 87 36 G A 85563306 2202 102 AAAAAACTTGCAAGTGAAATGTTGTAAAAAGCTTACCTTCAGTGTGGCTCTTTTACTTCTACTACCACTTGCCTTAATGTTTTCTATGCGATCTGCATGTGCGGTGATATCCCACATGACAATCTAAAATGGAAATAAATGTTATCATAACCTTTTCAGAAAATATCTAA 85097521 85097691 85097622 85097623 85097623 exon -33 0.632183908045977 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAAGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 55 1384 1 1 1 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0503861039231843 0.121974853036302 NA 0.913819521520257 NA 0.0861804784797431 NA FALSE NA 0.777 2.09 . missense_variant MODERATE WDR63 HGNC 30711 ENST00000326813 11/22 1 tolerated(0.32) benign(0.073) NA AGG G,A 1.647e-05 1:85097623 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 missense_variant 0.461862 0.20903 0.18932 0.549168 0.902157656651546 0 0.000118222164733869 FALSE 4.08757e-06 ENSE00001067244_016 ENSE00001067244 016 1 85563205 85563374 + 47 87 36 G A 85563309 2204 105 AAAAAACTTGCAAGTGAAATGTTGTAAAAAGCTTACCTTCAGTGTGGCTCTTTTACTTCTACTACTACCTGCCTTAATGTTTTCTATGCGATCTGCATGTGCGGTGATATCCCACATGACAATCTAAAATGGAAATAAATGTTATCATAACCTTTTCAGAAAATATCTAA 85097521 85097691 85097625 85097626 85097626 exon -30 0.666666666666667 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTAGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 615 14 0.840234553525758 0.952752681526597 0.896493617526177 NA NA 0.949613896076816 0.878025146963698 NA NA -0.109379342551058 0.0747275345628987 NA 0.913819521520257 NA -0.0173259039940796 NA FALSE NA 0.003 0.138 NA NA NA WDR63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:85097626 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 missense_variant -0.321788 0.22256 0.0694 0.553676 0.458531350866049 0 0.000118222164733869 FALSE 4.09112e-06 ENSE00001067244_018 ENSE00001067244 018 1 85563205 85563374 + 47 87 36 C A 85563344 2206 140 AAAAAACTTGCAAGTGAAATGTTGTAAAAATCTTACCTTCAGTGTGGCTCTTTTACTTCTACTACCACCTGCCTTAATGTTTTCTATGCGATCTGCATGTGCGGTGATATCCCACATGACAATCTAAAATGGAAATAAATGTTATCATAACCTTTTCAGAAAATATCTAA 85097521 85097691 85097660 85097661 85097661 downstr_intron 6 1.17142857142857 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGATTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 787 66 1 0.99517694653725 0.997588473268625 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0503861039231843 0.117151799573552 NA 0.913819521520257 NA 0.083768951748368 NA FALSE NA 0.001 -0.611 rs192462237 splice_region_variant&intron_variant LOW WDR63 HGNC 30711 ENST00000326813 11/21 rs192462237 1 A:0.0052 A:0.0015 A:0.0058 NA A:0 A:0.004 A:0.0164 A:0.0009 A:0.0067 GCT C,A 0.007307 1:85097661 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 splice_region_variant 0.484831 0.25982 0.12577 0.06567 0.541485399626935 0.164489 0.000118222164733869 FALSE 0.00734606 ENSE00001067244_020 ENSE00001067244 020 1 85563205 85563374 + 47 87 36 T A 85563357 2208 153 AAAAAACTTGCAAGTGATATGTTGTAAAAAGCTTACCTTCAGTGTGGCTCTTTTACTTCTACTACCACCTGCCTTAATGTTTTCTATGCGATCTGCATGTGCGGTGATATCCCACATGACAATCTAAAATGGAAATAAATGTTATCATAACCTTTTCAGAAAATATCTAA 85097521 85097691 85097673 85097674 85097674 downstr_intron 19 1.54285714285714 TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATATCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT mutant NA NA NA NA NA 170 133 0.995307729047594 1 0.997653864523797 NA NA 0.949613896076816 0.878025146963698 NA NA 0.0456938329707787 0.121974853036302 NA 0.913819521520257 NA 0.0838343430035403 NA FALSE NA 0.016 0.205 . intron_variant MODIFIER WDR63 HGNC 30711 ENST00000326813 11/21 rs578182295 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TTT T,A 8.24e-05 1:85097674 WDR63 HGNC Symbol protein_coding 133991 ENSG00000162643 ENSE00003528303 intron_variant 0.343826 0.25498 0.17033 0.06567 0.38282849048977 0.0455939 0.000118222164733869 FALSE 0.000128912 ENSE00001067244_BRK ENSE00001067244 BRK 1 85563205 85563374 + 47 87 36 A,G; T,T NA NA NA TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTTTATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGCCAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT 85097521 85097691 NA NA NA NA NA NA TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTTTATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGCCAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT TTAGATATTTTCTGAAAAGGTTATGATAACATTTATTTCCATTTTAGATTGTCATGTGGGATATCACCGCACATGCAGATCGCATAGAAAACATTAAGGCAGGTGGTAGTAGAAGTAAAAGAGCCACACTGAAGGTAAGCTTTTTACAACATTTCACTTGCAAGTTTTTT control NA NA NA NA NA 267 106 0.0235598120724323 0.166762105752708 0.0951609589125699 NA NA 0.949613896076816 0.878025146963698 NA NA -0.926054084004383 -0.711263041210991 NA 0.913819521520257 NA -0.818658562607687 NA TRUE NA NA NA NA NA NA WDR63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR63 NA NA NA ENSG00000162643 ENSE00003528303 NA NA NA NA NA NA NA 0.000118222164733869 FALSE NA ENSE00001067350_000 ENSE00001067350 000 1 86499500 86499669 - 53 54 63 NA NA NA NA NA AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 NA NA NA NA NA NA AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT natural 82 99 0.872468740667397 0.824366155339635 0.848417448003516 6236 6590 0.766473106075396 0.945642494710399 0.856057800392897 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 0 0 0 0 0.848417448003516 0.856057800392897 0 0 0 FALSE FALSE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001067350 NA NA NA NA NA NA NA 1.06341054664097e-25 FALSE NA ENSE00001067350_001 ENSE00001067350 001 1 86499500 86499669 - 53 54 63 A G 86499510 2399 160 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATCCATACTTCAT 86033816 86033986 86033826 86033827 86033827 downstr_intron 43 1.82692307692308 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATCCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant NA NA NA NA NA 634 103 0.995059729325036 0.999629659113494 0.997344694219265 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 NA NA 0.228586623249639 0.0539871644030957 0.848417448003516 0.856057800392897 NA 0.141286893826368 NA FALSE NA 0 0.006 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 13/57 1 NA GAA A,G 8.271e-06 1:86033827 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 intron_variant 0.125342 0.19537 0.06832 0.061011 0.599016763455507 0.0643616 1.06341054664097e-25 FALSE NA ENSE00001067350_003 ENSE00001067350 003 1 86499500 86499669 - 53 54 63 G A 86499524 2401 146 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGTATTCTAACATCATTCATACTTCAT 86033816 86033986 86033840 86033841 86033841 downstr_intron 29 1.55769230769231 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGTATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant 20 39 0.924012475833517 0.972032161534427 0.948022318683972 269 1422 0.96180192217605 0.97673760991366 0.969269766044855 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 0.0515437351661194 0.147666006194792 0.195328816100654 0.0310951152032616 0.848417448003516 0.856057800392897 0.0996048706804556 0.113211965651958 0.013607094971502 FALSE FALSE 0 0.342 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 13/57 1 NA TGC G,A 8.271e-06 1:86033841 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 intron_variant 0.217696 0.15249 0.05408 0.061011 0.402643181707975 0.0643616 1.06341054664097e-25 FALSE NA ENSE00001067350_004 ENSE00001067350 004 1 86499500 86499669 - 53 54 63 G A 86499529 2402 141 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGTCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033845 86033846 86033846 downstr_intron 24 1.46153846153846 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGTCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant 59 95 0.957034995611499 0.943361153501937 0.950198074556718 158 828 0.983261363328939 0.997193696932399 0.990227530130669 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 0.0845662549441017 0.118994998162302 0.216788257253543 0.0515512022220005 0.848417448003516 0.856057800392897 0.101780626553202 0.134169729737772 0.0323891031845698 FALSE FALSE 0.004 0.438 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 13/57 rs200435378 1 A:0.0014 A:0 A:0 NA A:0 A:0 A:0.0072 GGC G,A 0.001241 1:86033846 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 intron_variant -0.334708 0.11933 0.01342 0.061011 0.202915701393341 0.0643616 1.06341054664097e-25 FALSE 0.00110227 ENSE00001067350_005 ENSE00001067350 005 1 86499500 86499669 - 53 54 63 C G 86499548 2403 122 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGACTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033864 86033865 86033865 downstr_intron 5 1.09615384615385 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGACTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant 90 77 0 0 0 1192 830 0.0955497681413557 0.0146435414404006 0.0550966547908782 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 -0.872468740667397 -0.824366155339635 -0.67092333793404 -0.930998953269998 0.848417448003516 0.856057800392897 -0.848417448003516 -0.800961145602019 0.0474563024014971 TRUE TRUE 1 4.01 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 13/57 rs201241499 1 NA G:0.0003 G:0.0007 ACT C,G 0.0005542 1:86033865 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 splice_region_variant 2.214563 0.98962 0.94886 0.061011 0.968569674280821 0.980297 1.06341054664097e-25 FALSE 0.000529608 ENSE00001067350_006 ENSE00001067350 006 1 86499500 86499669 - 53 54 63 A C 86499553 2404 117 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCGGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033869 86033870 86033870 exon -1 1 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCGGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant NA NA NA NA NA 2551 2268 0.979322981810611 0.999287338922017 0.989305160366314 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 NA NA 0.212849875735215 0.053644844211618 0.848417448003516 0.856057800392897 NA 0.133247359973416 NA FALSE NA 1 1.148 . splice_region_variant&synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 13/58 1 NA CAG A,C 8.272e-06 1:86033870 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 splice_region_variant 1.367919 0.97382 0.76657 0.553676 0.88340507842115 0 1.06341054664097e-25 FALSE 4.20059e-06 ENSE00001067350_007 ENSE00001067350 007 1 86499500 86499669 - 53 54 63 C T 86499560 2405 110 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGACAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033876 86033877 86033877 exon -8 0.87037037037037 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGACAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant NA NA NA NA NA 355 380 0.993817340446207 0.999698985118838 0.996758162782522 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 NA NA 0.227344234370811 0.054056490408439 0.848417448003516 0.856057800392897 NA 0.140700362389625 NA FALSE NA 1 4.01 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 13/58 rs375955758 1 probably_damaging(1) NA T:0 T:0.0001 GCC C,T 8.272e-06 1:86033877 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 missense_variant 4.173735 0.9759 0.88723 0.553676 0.987816486215195 0 1.06341054664097e-25 FALSE NA ENSE00001067350_008 ENSE00001067350 008 1 86499500 86499669 - 53 54 63 G C 86499567 2406 103 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTGTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033883 86033884 86033884 exon -15 0.740740740740741 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTGTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant NA NA NA NA NA 994 1439 0.99829005253426 0.998064097195024 0.998177074864642 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 NA NA 0.231816946458864 0.0524216024846258 0.848417448003516 0.856057800392897 NA 0.142119274471745 NA FALSE NA 1 1.663 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 13/58 rs545964690 1 benign(0.157) C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 AGA G,C 8.273e-06 1:86033884 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 missense_variant 2.234315 0.97813 0.79714 0.553676 0.932760165230904 0 1.06341054664097e-25 FALSE 4.22176e-06 ENSE00001067350_009 ENSE00001067350 009 1 86499500 86499669 - 53 54 63 G C 86499576 2407 94 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCGCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033892 86033893 86033893 exon -24 0.574074074074074 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCGCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant NA NA NA NA NA 507 495 0.590441951395651 0.732205964448368 0.661323957922009 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 NA NA -0.176031154679745 -0.213436530262031 0.848417448003516 0.856057800392897 NA -0.194733842470888 NA FALSE NA 1 2.624 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 13/58 1 possibly_damaging(0.864) NA GGG G,C 8.275e-06 1:86033893 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 missense_variant 2.621373 0.97156 0.87723 0.553676 0.829308209689784 0 1.06341054664097e-25 FALSE 4.31038e-06 ENSE00001067350_010 ENSE00001067350 010 1 86499500 86499669 - 53 54 63 C A 86499578 2408 92 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGTCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033894 86033895 86033895 exon -26 0.537037037037037 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGTCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant 61 18 0 0 0 539 888 0.159741323255479 0.00098184284342908 0.0803615830494539 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 -0.872468740667397 -0.824366155339635 -0.606731782819917 -0.94466065186697 0.848417448003516 0.856057800392897 -0.848417448003516 -0.775696217343444 0.0727212306600727 TRUE TRUE 1 4.01 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 13/58 1 probably_damaging(1) NA GCC C,A 8.276e-06 1:86033895 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 missense_variant 4.515957 0.97755 0.91069 0.553676 0.993372564424647 0 1.06341054664097e-25 FALSE 4.31243e-06 ENSE00001067350_011 ENSE00001067350 011 1 86499500 86499669 - 53 54 63 C A 86499579 2409 91 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGATGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033895 86033896 86033896 exon -27 0.518518518518518 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGATGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant NA NA NA NA NA 1639 3983 0.955137222701934 0.92028152440864 0.937709373555287 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 NA NA 0.188664116626538 -0.0253609703017587 0.848417448003516 0.856057800392897 NA 0.0816515731623895 NA FALSE NA 1 4.01 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 13/58 rs556294128 1 probably_damaging(1) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CCT C,A 8.276e-06 1:86033896 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 missense_variant 5.52821 0.98583 0.92723 0.553676 0.993364164355709 0 1.06341054664097e-25 FALSE 4.30763e-06 ENSE00001067350_012 ENSE00001067350 012 1 86499500 86499669 - 53 54 63 C A 86499587 2410 83 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGTAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033903 86033904 86033904 exon 20 0.37037037037037 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGTAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant 492 258 0 0.0811455912563165 0.0405727956281582 162 126 0.0060765720690631 0.0206413998867317 0.0133589859778974 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 -0.872468740667397 -0.743220564083319 -0.760396534006333 -0.925001094823667 0.848417448003516 0.856057800392897 -0.807844652375358 -0.842698814415 0.0348541620396421 TRUE TRUE 1 4.01 rs184891690 missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 13/58 rs184891690 1 probably_damaging(1) A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 A:0.0005 A:0.005 TCC C,A 0.002897 1:86033904 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 missense_variant 5.4167 0.98583 0.92723 0.553676 0.995783217108587 0 1.06341054664097e-25 FALSE 0.0030809 ENSE00001067350_013 ENSE00001067350 013 1 86499500 86499669 - 53 54 63 A T 86499590 2411 80 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTATGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033906 86033907 86033907 exon 17 0.314814814814815 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTATGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant 14 20 0.80982916126452 0.85 0.82991458063226 305 81 0.990476224095216 0.981663146255866 0.986069685175541 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 -0.0626395794028769 0.0256338446603647 0.22400311801982 0.0360206515454675 0.848417448003516 0.856057800392897 -0.0185028673712561 0.130011884782644 0.1485147521539 FALSE FALSE 1 4.807 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 13/58 1 probably_damaging(0.97) NA AAA A,T 8.277e-06 1:86033907 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 missense_variant 4.702204 0.98353 0.94148 0.553676 0.977116880969804 0 1.06341054664097e-25 FALSE 8.64439e-06 ENSE00001067350_014 ENSE00001067350 014 1 86499500 86499669 - 53 54 63 A G 86499601 2412 69 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTCCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033917 86033918 86033918 exon 6 0.111111111111111 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTCCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant NA NA NA NA NA 1029 930 0.988927024687197 0.836548152897993 0.912737588792595 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 NA NA 0.222453918611801 -0.109094341812406 0.848417448003516 0.856057800392897 NA 0.0566797883996976 NA FALSE NA 1 0.821 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 13/58 1 NA GAA A,G 1.656e-05 1:86033918 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 synonymous_variant 0.734864 0.95561 0.57745 0.553676 0.806973453070683 0 1.06341054664097e-25 FALSE 1.30234e-05 ENSE00001067350_016 ENSE00001067350 016 1 86499500 86499669 - 53 54 63 A C 86499618 2414 52 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTGCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033934 86033935 86033935 upstr_intron -12 -0.174603174603175 AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTGCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant 231 502 0.0169969945624249 0 0.00849849728121244 10113 178 0.0953105371758358 0.0133752960164423 0.0543429165961391 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 -0.855471746104972 -0.824366155339635 -0.67116256889956 -0.932267198693956 0.848417448003516 0.856057800392897 -0.839918950722304 -0.801714883796758 0.0382040669255455 TRUE TRUE 0.019 0.668 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 12/57 rs201514530 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 GAA A,C 0.0001325 1:86033935 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 intron_variant 1.006298 0.18453 0.08463 0.061011 0.864960349330519 0.223113 1.06341054664097e-25 FALSE 0.00018176 ENSE00001067350_017 ENSE00001067350 017 1 86499500 86499669 - 53 54 63 T C 86499640 2415 30 AGAAAATACAGCAAAAATGAATTATTTATGTATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 86033956 86033957 86033957 upstr_intron -34 -0.523809523809524 AGAAAATACAGCAAAAATGAATTATTTATGTATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT mutant 62 152 0.85 0.874633630177528 0.862316815088764 NA NA NA NA NA 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 -0.0224687406673971 0.050267474837893 NA NA 0.848417448003516 0.856057800392897 0.0138993670852479 NA NA NA FALSE 0 -0.508 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 12/57 1 NA ATA T,C 8.291e-06 1:86033957 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001067350 intron_variant -0.06129 0.12877 0.01505 0.061011 0.69168805926947 0.0821837 1.06341054664097e-25 FALSE NA ENSE00001067350_BRK ENSE00001067350 BRK 1 86499500 86499669 - 53 54 63 A,G; T,T NA NA NA AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACTTGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTCCGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT 86033816 86033986 NA NA NA NA NA NA AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACTTGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTCCGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT AGAAAATACAGCAAAAATGAATTATTTATATATGTTGGCATTCTTCCTCTTTCCCTGTGACAGGGTTTTCCAGGTGACTTTGGAGACAGAGGCCCTGCTGGTCTTGATGGCAGTCCTGTGAGTACATTATGTTGGTTCAGCCTTGCATTCTAACATCATTCATACTTCAT control 240 372 0 0 0 320 2028 0.0184864862038283 0.000157688996620114 0.00932208760022419 0.872468740667397 0.824366155339635 0.766473106075396 0.945642494710399 -0.872468740667397 -0.824366155339635 -0.747986619871568 -0.945484805713778 0.848417448003516 0.856057800392897 -0.848417448003516 -0.846735712792673 0.00168173521084314 TRUE TRUE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001067350 NA NA NA NA NA NA NA 1.06341054664097e-25 FALSE NA ENSE00001069556_000 ENSE00001069556 000 1 206944651 206944820 - 50 60 60 NA NA NA NA NA GACCGCATTTCAGTTATTTCCCCAAACCTCAAGTTCATTCTCCTTTTGTTCTTCCTGCAGCAAATGAAGGATCAGCTGGACAACTTGTTGTTAAAGGAGTCCTTGCTGGAGGACTTTAAGGTGAGAGCAGGGGCGGGGTGCTGGGGGAGTGTGCAGCATGATTAAGGGAA 206771305 206771475 NA NA NA NA NA NA GACCGCATTTCAGTTATTTCCCCAAACCTCAAGTTCATTCTCCTTTTGTTCTTCCTGCAGCAAATGAAGGATCAGCTGGACAACTTGTTGTTAAAGGAGTCCTTGCTGGAGGACTTTAAGGTGAGAGCAGGGGCGGGGTGCTGGGGGAGTGTGCAGCATGATTAAGGGAA GACCGCATTTCAGTTATTTCCCCAAACCTCAAGTTCATTCTCCTTTTGTTCTTCCTGCAGCAAATGAAGGATCAGCTGGACAACTTGTTGTTAAAGGAGTCCTTGCTGGAGGACTTTAAGGTGAGAGCAGGGGCGGGGTGCTGGGGGAGTGTGCAGCATGATTAAGGGAA natural 26 15 0.998094654001279 0.99624431554899 0.997169484775135 447 926 0.87084427895353 0.996744372796658 0.933794325875094 0.998094654001279 0.99624431554899 0.87084427895353 0.996744372796658 0 0 0 0 0.997169484775135 0.933794325875094 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001069556 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001069556_BRK ENSE00001069556 BRK 1 206944651 206944820 - 50 60 60 A,G; T,T NA NA NA GACCGCATTTCAGTTATTTCCCCAAACCTCAAGTTCATTCTCCTTTTGTTCTTCCTGCTTCAAATGAAGGATCAGCTGGACAACTTGTTGTTAAAGGAGTCCTTGCTGGAGGACTTTAAGCCGAGAGCAGGGGCGGGGTGCTGGGGGAGTGTGCAGCATGATTAAGGGAA 206771305 206771475 NA NA NA NA NA NA GACCGCATTTCAGTTATTTCCCCAAACCTCAAGTTCATTCTCCTTTTGTTCTTCCTGCTTCAAATGAAGGATCAGCTGGACAACTTGTTGTTAAAGGAGTCCTTGCTGGAGGACTTTAAGCCGAGAGCAGGGGCGGGGTGCTGGGGGAGTGTGCAGCATGATTAAGGGAA GACCGCATTTCAGTTATTTCCCCAAACCTCAAGTTCATTCTCCTTTTGTTCTTCCTGCAGCAAATGAAGGATCAGCTGGACAACTTGTTGTTAAAGGAGTCCTTGCTGGAGGACTTTAAGGTGAGAGCAGGGGCGGGGTGCTGGGGGAGTGTGCAGCATGATTAAGGGAA control 13 50 0 0 0 NA NA NA NA NA 0.998094654001279 0.99624431554899 0.87084427895353 0.996744372796658 -0.998094654001279 -0.99624431554899 NA NA 0.997169484775135 0.933794325875094 -0.997169484775135 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001069556 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00001069571_000 ENSE00001069571 000 1 207039587 207039756 + 57 66 47 NA NA NA NA NA TCCCACTCCACTCCTCCTCCCAGAGTTTGTCTGGGCCAAGCACATACCTTTGTGTCTTGCAAAGACTCAGTCCTCCTTAAGATTCTGATGTCAATGTTTCCATCTTTGGCTTGCTAAACAGAAGAAGACAAAACAAGCAAGGATGAGTCAGTGCCTGCTGCCAGGGTCTT 206866241 206866411 NA NA NA NA NA NA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA natural 14 17 0.995628234674716 0.998924439414217 0.997276337044467 492 616 0.982958851429372 0.98816161111754 0.985560231273456 0.995628234674716 0.998924439414217 0.982958851429372 0.98816161111754 0 0 0 0 0.997276337044467 0.985560231273456 0 0 0 FALSE FALSE NA NA NA NA NA IL20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL20 NA NA NA ENSG00000162891 ENSE00001069571 NA NA NA NA NA NA NA 0.00253917759019062 FALSE NA ENSE00001069571_012 ENSE00001069571 012 1 207039587 207039756 + 57 66 47 A C 207039679 4948 93 TCCCACTCCACTCCTCCTCCCAGAGTTTGTCTGGGCCAAGCACATACCTTTGTGTCTTGCAAAGACTCAGTCCTCCTGAAGATTCTGATGTCAATGTTTCCATCTTTGGCTTGCTAAACAGAAGAAGACAAAACAAGCAAGGATGAGTCAGTGCCTGCTGCCAGGGTCTT 206866241 206866411 206866333 206866334 206866334 exon -31 0.545454545454545 AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTCAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA mutant NA NA NA NA NA 529 291 1 0.998281537003978 0.999140768501989 0.995628234674716 0.998924439414217 0.982958851429372 0.98816161111754 NA NA 0.0170411485706283 0.0101199258864377 0.997276337044467 0.985560231273456 NA 0.013580537228533 NA FALSE NA 1 1.339 . missense_variant MODERATE IL20 HGNC 6002 ENST00000391930 2/4 rs112004526 1 deleterious(0) probably_damaging(0.999) NA C:0 C:0.0001 TAA A,C 5.765e-05 1:206866334 IL20 HGNC Symbol protein_coding 3869 ENSG00000162891 ENSE00001069571 missense_variant 4.739387 0.92284 0.57435 0.487112 0.998664044401362 0 0.00253917759019062 FALSE 5.28576e-05 ENSE00001069571_013 ENSE00001069571 013 1 207039587 207039756 + 57 66 47 T G 207039688 4949 102 TCCCACTCCACTCCTCCTCCCAGAGTTTGTCTGGGCCAAGCACATACCTTTGTGTCTTGCAAAGACTCCGTCCTCCTTAAGATTCTGATGTCAATGTTTCCATCTTTGGCTTGCTAAACAGAAGAAGACAAAACAAGCAAGGATGAGTCAGTGCCTGCTGCCAGGGTCTT 206866241 206866411 206866342 206866343 206866343 exon -22 0.681818181818182 AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACGGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA mutant NA NA NA NA NA 23 73 1 0.991197992695599 0.9955989963478 0.995628234674716 0.998924439414217 0.982958851429372 0.98816161111754 NA NA 0.0170411485706283 0.00303638157805863 0.997276337044467 0.985560231273456 NA 0.0100387650743435 NA FALSE NA 0 -3.524 . synonymous_variant LOW IL20 HGNC 6002 ENST00000391930 2/4 COSM3720124 1 NA CTG T,G 1.647e-05 1:206866343 IL20 HGNC Symbol protein_coding 3869 ENSG00000162891 ENSE00001069571 synonymous_variant -0.476301 0.14581 0.03228 0.487112 0.634077064660331 0 0.00253917759019062 FALSE 8.13107e-06 ENSE00001069571_016 ENSE00001069571 016 1 207039587 207039756 + 57 66 47 G A 207039709 4952 123 TCCCACTCCACTCCTCCTCCCAGAGTTTGTCTGGGCCAAGCACATACTTTTGTGTCTTGCAAAGACTCAGTCCTCCTTAAGATTCTGATGTCAATGTTTCCATCTTTGGCTTGCTAAACAGAAGAAGACAAAACAAGCAAGGATGAGTCAGTGCCTGCTGCCAGGGTCTT 206866241 206866411 206866363 206866364 206866364 exon -1 1 AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAAGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA mutant 50 170 0.85 0.85 0.85 NA NA NA NA NA 0.995628234674716 0.998924439414217 0.982958851429372 0.98816161111754 -0.145628234674716 -0.148924439414217 NA NA 0.997276337044467 0.985560231273456 -0.147276337044467 NA NA NA FALSE 1 3.061 . splice_region_variant&synonymous_variant LOW IL20 HGNC 6002 ENST00000391930 2/4 1 NA AGG G,A 4.942e-05 1:206866364 IL20 HGNC Symbol protein_coding 3869 ENSG00000162891 ENSE00001069571 splice_region_variant 1.580323 0.94299 0.80615 0.487112 0.777939399729742 0 0.00253917759019062 FALSE 4.06494e-05 ENSE00001069571_017 ENSE00001069571 017 1 207039587 207039756 + 57 66 47 G T 207039710 4953 124 TCCCACTCCACTCCTCCTCCCAGAGTTTGTCTGGGCCAAGCACATAACTTTGTGTCTTGCAAAGACTCAGTCCTCCTTAAGATTCTGATGTCAATGTTTCCATCTTTGGCTTGCTAAACAGAAGAAGACAAAACAAGCAAGGATGAGTCAGTGCCTGCTGCCAGGGTCTT 206866241 206866411 206866364 206866365 206866365 downstr_intron 1 1.02173913043478 AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGTTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA mutant 117 184 0 0 0 NA NA NA NA NA 0.995628234674716 0.998924439414217 0.982958851429372 0.98816161111754 -0.995628234674716 -0.998924439414217 NA NA 0.997276337044467 0.985560231273456 -0.997276337044467 NA NA NA TRUE 1 4.609 NA NA NA IL20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:206866365 IL20 HGNC Symbol protein_coding 3869 ENSG00000162891 ENSE00001069571 splice_donor_variant 3.935376 0.9444 0.86974 0.06567 0.993633318892528 0.959397 0.00253917759019062 FALSE 0.000674808 ENSE00001069571_020 ENSE00001069571 020 1 207039587 207039756 + 57 66 47 A C 207039739 4956 153 TCCCACTCCACTCCTCCGCCCAGAGTTTGTCTGGGCCAAGCACATACCTTTGTGTCTTGCAAAGACTCAGTCCTCCTTAAGATTCTGATGTCAATGTTTCCATCTTTGGCTTGCTAAACAGAAGAAGACAAAACAAGCAAGGATGAGTCAGTGCCTGCTGCCAGGGTCTT 206866241 206866411 206866393 206866394 206866394 downstr_intron 30 1.65217391304348 AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGCGGAGGAGTGGAGTGGGA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA mutant 32 23 0.971540520616084 0.808578759798535 0.89005964020731 NA NA NA NA NA 0.995628234674716 0.998924439414217 0.982958851429372 0.98816161111754 -0.0240877140586322 -0.190345679615682 NA NA 0.997276337044467 0.985560231273456 -0.107216696837157 NA NA NA FALSE 0.864 0.695 . intron_variant MODIFIER IL20 HGNC 6002 ENST00000391930 2/3 1 NA GAG A,C 8.236e-06 1:206866394 IL20 HGNC Symbol protein_coding 3869 ENSG00000162891 ENSE00001069571 intron_variant 0.322089 0.4621 0.52259 0.06567 0.719952731680825 0.157011 0.00253917759019062 FALSE 8.13081e-06 ENSE00001069571_BRK ENSE00001069571 BRK 1 207039587 207039756 + 57 66 47 A,G; T,T NA NA NA TCCCACTCCACTCCTCCTCCCAGAGTTTGTCTGGGCCAAGCACATGGCTTTGTGTCTTGCAAAGACTCAGTCCTCCTTAAGATTCTGATGTCAATGTTTCCATCTTTGGCTTGAAAAACAGAAGAAGACAAAACAAGCAAGGATGAGTCAGTGCCTGCTGCCAGGGTCTT 206866241 206866411 NA NA NA NA NA NA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTTTCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGCCATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA AAGACCCTGGCAGCAGGCACTGACTCATCCTTGCTTGTTTTGTCTTCTTCTGTTTAGCAAGCCAAAGATGGAAACATTGACATCAGAATCTTAAGGAGGACTGAGTCTTTGCAAGACACAAAGGTATGTGCTTGGCCCAGACAAACTCTGGGAGGAGGAGTGGAGTGGGA control 121 12 0.0108442738384819 0.172698263030248 0.0917712684343647 NA NA NA NA NA 0.995628234674716 0.998924439414217 0.982958851429372 0.98816161111754 -0.984783960836234 -0.82622617638397 NA NA 0.997276337044467 0.985560231273456 -0.905505068610102 NA NA NA TRUE NA NA NA NA NA IL20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL20 NA NA NA ENSG00000162891 ENSE00001069571 NA NA NA NA NA NA NA 0.00253917759019062 FALSE NA ENSE00001069631_000 ENSE00001069631 000 1 237023088 237023257 + 45 90 35 NA NA NA NA NA CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 NA NA NA NA NA NA TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG natural 27 14 1 1 1 736 1451 0.993650731398801 0.98367557684927 0.988663154124035 1 1 0.993650731398801 0.98367557684927 0 0 0 0 1 0.988663154124035 0 0 0 FALSE FALSE NA NA NA NA NA MTR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTR NA NA NA ENSG00000116984 ENSE00001069631 NA NA NA NA NA NA NA 2.84377203137864e-07 FALSE NA ENSE00001069631_001 ENSE00001069631 001 1 237023088 237023257 + 45 90 35 G T 237023101 5322 14 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATAAAACTCATCACTAA 236859787 236859957 236859800 236859801 236859801 upstr_intron -32 -0.688888888888889 TTAGTGATGAGTTTTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant 21 31 0.85 0.85 0.85 460 372 0.931962484060158 0.99708307698353 0.964522780521844 1 1 0.993650731398801 0.98367557684927 -0.15 -0.15 -0.0616882473386425 0.0134075001342606 1 0.988663154124035 -0.15 -0.024140373602191 0.125859626397809 FALSE FALSE 0.001 0.033 . intron_variant MODIFIER MTR HGNC 7468 ENST00000366576 5/19 1 NA TGT G,T 8.236e-06 1:236859801 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 intron_variant -0.170169 0.26339 0.14682 0.156188 0.630120165006635 0.0469539 2.84377203137864e-07 FALSE 4.06706e-06 ENSE00001069631_005 ENSE00001069631 005 1 237023088 237023257 + 45 90 35 C G 237023130 5326 43 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCTTGAGTCTCAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859829 236859830 236859830 upstr_intron -3 -0.0444444444444444 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTGAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 62 76 0.8 0.8 0.8 1 1 0.993650731398801 0.98367557684927 NA NA -0.193650731398801 -0.18367557684927 1 0.988663154124035 NA -0.188663154124035 NA FALSE NA 0.987 1.069 . splice_region_variant&intron_variant LOW MTR HGNC 7468 ENST00000366576 5/19 1 NA TCA C,G 4.118e-05 1:236859830 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 splice_region_variant 0.525782 0.97019 0.96942 0.156188 0.679607974137209 0.199545 2.84377203137864e-07 FALSE 1.62595e-05 ENSE00001069631_007 ENSE00001069631 007 1 237023088 237023257 + 45 90 35 A C 237023138 5328 51 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCGTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859837 236859838 236859838 exon 6 0.0666666666666667 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCACGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 57 30 1 1 1 1 1 0.993650731398801 0.98367557684927 NA NA 0.00634926860119944 0.0163244231507301 1 0.988663154124035 NA 0.0113368458759648 NA FALSE NA 0.003 -0.967 . missense_variant MODERATE MTR HGNC 7468 ENST00000366576 6/20 rs562769000 1 tolerated(0.64) benign(0) C:0.0008 C:0 C:0 NA C:0 C:0 C:0.0041 AAG A,C 0.0003953 1:236859838 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 missense_variant -1.416683 0.68147 0.06866 0.706548 0.195722128254061 0 2.84377203137864e-07 FALSE 0.00042273 ENSE00001069631_009 ENSE00001069631 009 1 237023088 237023257 + 45 90 35 A G 237023154 5330 67 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTCCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859853 236859854 236859854 exon 22 0.244444444444444 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGGAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 32 384 1 1 1 1 1 0.993650731398801 0.98367557684927 NA NA 0.00634926860119944 0.0163244231507301 1 0.988663154124035 NA 0.0113368458759648 NA FALSE NA 1 6.375 . missense_variant MODERATE MTR HGNC 7468 ENST00000366576 6/20 1 tolerated(0.34) benign(0.022) NA GAA A,G 8.236e-06 1:236859854 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 missense_variant 2.578694 0.98991 0.97837 0.706548 0.997682624966354 0 2.84377203137864e-07 FALSE 4.06474e-06 ENSE00001069631_010 ENSE00001069631 010 1 237023088 237023257 + 45 90 35 A G 237023155 5331 68 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTCTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859854 236859855 236859855 exon 23 0.255555555555556 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAGAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 14 195 0.8 1 0.9 1 1 0.993650731398801 0.98367557684927 NA NA -0.193650731398801 0.0163244231507301 1 0.988663154124035 NA -0.0886631541240352 NA FALSE NA 1 6.472 . missense_variant MODERATE MTR HGNC 7468 ENST00000366576 6/20 1 tolerated(0.08) benign(0.03) NA AAA A,G 8.236e-06 1:236859855 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 missense_variant 3.001678 0.98991 0.98229 0.706548 0.998624378555394 0 2.84377203137864e-07 FALSE 4.06454e-06 ENSE00001069631_011 ENSE00001069631 011 1 237023088 237023257 + 45 90 35 A G 237023156 5332 69 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACCTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859855 236859856 236859856 exon 24 0.266666666666667 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAGGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 35 25 0.998818218615157 1 0.999409109307578 1 1 0.993650731398801 0.98367557684927 NA NA 0.00516748721635607 0.0163244231507301 1 0.988663154124035 NA 0.0107459551835431 NA FALSE NA 0.992 0.271 rs144767461 synonymous_variant LOW MTR HGNC 7468 ENST00000366576 6/20 rs144767461 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0013 AAG A,G 0.0003542 1:236859856 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 synonymous_variant 0.154005 0.96096 0.65785 0.706548 0.674658188231858 0 2.84377203137864e-07 FALSE 0.00035365 ENSE00001069631_012 ENSE00001069631 012 1 237023088 237023257 + 45 90 35 G A 237023157 5333 70 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGATTTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859856 236859857 236859857 exon 25 0.277777777777778 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAATCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 245 87 0.995897555992306 1 0.997948777996153 1 1 0.993650731398801 0.98367557684927 NA NA 0.00224682459350545 0.0163244231507301 1 0.988663154124035 NA 0.00928562387211779 NA FALSE NA 1 3.37 . missense_variant MODERATE MTR HGNC 7468 ENST00000366576 6/20 1 tolerated(0.21) benign(0.002) NA AGT G,A 8.236e-06 1:236859857 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 missense_variant 2.751057 0.98155 0.93383 0.706548 0.993171773376616 0 2.84377203137864e-07 FALSE 4.06488e-06 ENSE00001069631_019 ENSE00001069631 019 1 237023088 237023257 + 45 90 35 C T 237023192 5340 105 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCAACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859891 236859892 236859892 exon -31 0.666666666666667 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTTGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 307 26 1 1 1 1 1 0.993650731398801 0.98367557684927 NA NA 0.00634926860119944 0.0163244231507301 1 0.988663154124035 NA 0.0113368458759648 NA FALSE NA 0.031 -1.151 rs147141232 synonymous_variant LOW MTR HGNC 7468 ENST00000366576 6/20 rs147141232 1 NA T:0.0002 T:0 TCG C,T 4.118e-05 1:236859892 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 synonymous_variant 1.368149 0.14419 0.02165 0.706548 0.53844613169867 0 2.84377203137864e-07 FALSE 2.43867e-05 ENSE00001069631_020 ENSE00001069631 020 1 237023088 237023257 + 45 90 35 G A 237023193 5341 106 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTTGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859892 236859893 236859893 exon -30 0.677777777777778 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCAAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 361 157 1 1 1 1 1 0.993650731398801 0.98367557684927 NA NA 0.00634926860119944 0.0163244231507301 1 0.988663154124035 NA 0.0113368458759648 NA FALSE NA 1 8.708 rs142774813 missense_variant MODERATE MTR HGNC 7468 ENST00000366576 6/20 rs142774813 1 tolerated(0.06) benign(0.381) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0003 CGA G,A 0.000173 1:236859893 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 missense_variant 5.135029 0.99208 0.98934 0.706548 0.999272497997606 0 2.84377203137864e-07 FALSE 0.000199163 ENSE00001069631_023 ENSE00001069631 023 1 237023088 237023257 + 45 90 35 T C 237023216 5344 129 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTTACCTTCACGAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859915 236859916 236859916 exon -7 0.933333333333333 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTCGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 838 521 0.999310437221021 0.999707281613397 0.999508859417209 1 1 0.993650731398801 0.98367557684927 NA NA 0.00565970582222075 0.0160317047641275 1 0.988663154124035 NA 0.0108457052931741 NA FALSE NA 0 -3.985 . synonymous_variant LOW MTR HGNC 7468 ENST00000366576 6/20 1 NA TTG T,C 1.647e-05 1:236859916 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 synonymous_variant -0.150751 0.42773 0.02968 0.706548 0.59127364205631 0 2.84377203137864e-07 FALSE 1.21916e-05 ENSE00001069631_024 ENSE00001069631 024 1 237023088 237023257 + 45 90 35 A G 237023225 5345 138 CCTCCAGCCCTCCAGTTCAGGCCCCTGTAACTCACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859924 236859925 236859925 downstr_intron 3 1.08823529411765 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTGAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 99 362 1 0.999894801719651 0.999947400859825 1 1 0.993650731398801 0.98367557684927 NA NA 0.00634926860119944 0.0162192248703812 1 0.988663154124035 NA 0.0112842467357903 NA FALSE NA 0.997 1.756 . splice_region_variant&intron_variant LOW MTR HGNC 7468 ENST00000366576 6/19 1 NA TAA A,G 8.236e-06 1:236859925 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 splice_region_variant 0.845911 0.94622 0.49054 0.099367 0.717328045092003 0.203967 2.84377203137864e-07 FALSE 4.06408e-06 ENSE00001069631_025 ENSE00001069631 025 1 237023088 237023257 + 45 90 35 A G 237023232 5346 145 CCTCCAGCCCTCCAGTTCAGGCCCCCGTAACTTACCTTCACAAGGGCATACTCAAGGCGTTCTTCGACAGGGCCATTTCTCCACTCATCAGTCTGAATGACTTTCTTCCCTCCTGTGCCTTGAGTCTGAATTGAAATTGAAACCAAGAAATGGATACAACTCATCACTAA 236859787 236859957 236859931 236859932 236859932 downstr_intron 10 1.29411764705882 TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACGGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG mutant NA NA NA NA NA 1251 406 0.999386967089284 0.996258461099056 0.99782271409417 1 1 0.993650731398801 0.98367557684927 NA NA 0.00573623569048387 0.0125828842497862 1 0.988663154124035 NA 0.00915955997013501 NA FALSE NA 0 -0.095 . intron_variant MODIFIER MTR HGNC 7468 ENST00000366576 6/19 rs375005444 1 NA G:0 G:0.0002 CAG A,G 7.413e-05 1:236859932 MTR HGNC Symbol protein_coding 108700 ENSG00000116984 ENSE00001069631 intron_variant -0.187828 0.09469 0.00053 0.062308 0.317200157758357 0.0476976 2.84377203137864e-07 FALSE 8.53534e-05 ENSE00001069631_BRK ENSE00001069631 BRK 1 237023088 237023257 + 45 90 35 A,G; T,T NA NA NA TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCTTACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGCCAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG 236859787 236859957 NA NA NA NA NA NA TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCTTACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGCCAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG TTAGTGATGAGTTGTATCCATTTCTTGGTTTCAATTTCAATTCAGACTCAAGGCACAGGAGGGAAGAAAGTCATTCAGACTGATGAGTGGAGAAATGGCCCTGTCGAAGAACGCCTTGAGTATGCCCTTGTGAAGGTAAGTTACAGGGGCCTGAACTGGAGGGCTGGAGG control NA NA NA NA NA 52 280 0 0 0 1 1 0.993650731398801 0.98367557684927 NA NA -0.993650731398801 -0.98367557684927 1 0.988663154124035 NA -0.988663154124035 NA TRUE NA NA NA NA NA NA MTR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTR NA NA NA ENSG00000116984 ENSE00001069631 NA NA NA NA NA NA NA 2.84377203137864e-07 FALSE NA ENSE00001071412_000 ENSE00001071412 000 2 223389618 223389787 + 45 90 35 NA NA NA NA NA TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 NA NA NA NA NA NA TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT natural 67 59 0.930590830846046 0.961889507604721 0.946240169225384 1049 589 0.919963463573123 0.879920662159061 0.899942062866092 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 0 0 0 0 0.946240169225384 0.899942062866092 0 0 0 FALSE FALSE NA NA NA NA NA SGPP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SGPP2 NA NA NA ENSG00000163082 ENSE00001071412 NA NA NA NA NA NA NA 0.0122737609427454 FALSE NA ENSE00001071412_001 ENSE00001071412 001 2 223389618 223389787 + 45 90 35 A T 223389628 4855 11 TCTGAGTGTGTTCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524908 222524909 222524909 upstr_intron -35 -0.755555555555556 TCTGAGTGTGTTCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 326 311 1 1 1 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0800365364268769 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.100057937133908 NA FALSE NA 0 -0.935 . intron_variant MODIFIER SGPP2 HGNC 19953 ENST00000321276 3/4 1 NA GAT A 8.237e-06 2:222524909 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 intron_variant -0.358053 0.13435 0.02829 0.359288 0.579920028474751 0.0683311 0.0122737609427454 FALSE 4.12923e-06 ENSE00001071412_002 ENSE00001071412 002 2 223389618 223389787 + 45 90 35 T A 223389645 4856 28 TCTGAGTGTGATCTAATTCCCTTGTTTATTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524925 222524926 222524926 upstr_intron -18 -0.377777777777778 TCTGAGTGTGATCTAATTCCCTTGTTTATTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 10 199 0.849203518172091 1 0.924601759086045 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA -0.0707599454010325 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.0246596962199533 NA FALSE NA 0.022 0.168 NA NA NA SGPP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:222524926 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 intron_variant -0.124847 0.17608 0.0814 0.359288 0.499381992731243 0.0550755 0.0122737609427454 FALSE 0.00822481 ENSE00001071412_004 ENSE00001071412 004 2 223389618 223389787 + 45 90 35 T A 223389647 4858 30 TCTGAGTGTGATCTAATTCCCTTGTTTTTACTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524927 222524928 222524928 upstr_intron -16 -0.333333333333333 TCTGAGTGTGATCTAATTCCCTTGTTTTTACTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 15 500 0.957874111852667 1 0.978937055926334 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0379106482795444 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.0789949930602418 NA FALSE NA 0.039 0.329 . intron_variant MODIFIER SGPP2 HGNC 19953 ENST00000321276 3/4 1 NA TTC T 8.237e-06 2:222524928 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 intron_variant -0.055752 0.27318 0.13688 0.359288 0.417230061302759 0.0550755 0.0122737609427454 FALSE 4.08724e-06 ENSE00001071412_005 ENSE00001071412 005 2 223389618 223389787 + 45 90 35 C T 223389656 4859 39 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCTCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524936 222524937 222524937 upstr_intron -7 -0.133333333333333 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCTCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 69 466 1 1 1 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0800365364268769 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.100057937133908 NA FALSE NA 0.001 -0.005 . splice_region_variant&intron_variant LOW SGPP2 HGNC 19953 ENST00000321276 3/4 1 NA CCC C 8.237e-06 2:222524937 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 splice_region_variant 0.434079 0.26163 0.04824 0.359288 0.327962168266358 0.0926964 0.0122737609427454 FALSE 1.6316e-05 ENSE00001071412_006 ENSE00001071412 006 2 223389618 223389787 + 45 90 35 C T 223389666 4860 49 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATTCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524946 222524947 222524947 exon 4 0.0444444444444444 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATTCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 80 731 0.989235534843358 0.917306655920004 0.953271095381681 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0692720712702349 0.0373859937609434 0.946240169225384 0.899942062866092 NA 0.0533290325155892 NA FALSE NA 1 3.413 . missense_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 COSM3578207 1 deleterious(0.03) possibly_damaging(0.838) NA TCC C 8.237e-06 2:222524947 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 5.170778 0.99356 0.98003 0.719381 0.998770765423669 0 0.0122737609427454 FALSE 4.06686e-06 ENSE00001071412_007 ENSE00001071412 007 2 223389618 223389787 + 45 90 35 G T 223389672 4861 55 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTTTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524952 222524953 222524953 exon 10 0.111111111111111 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTTTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 96 208 1 0.99923889021821 0.999619445109105 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0800365364268769 0.119318228059149 0.946240169225384 0.899942062866092 NA 0.0996773822430131 NA FALSE NA 0.116 1.696 . missense_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 rs575662001 1 tolerated(0.74) benign(0.016) NA TGT G 8.237e-05 2:222524953 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant -1.09581 0.26267 0.31129 0.719381 0.623501286715452 0 0.0122737609427454 FALSE 9.34838e-05 ENSE00001071412_008 ENSE00001071412 008 2 223389618 223389787 + 45 90 35 A G 223389680 4862 63 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGGCTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524960 222524961 222524961 exon 18 0.2 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGGCTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 385 41 0.997733402339765 1 0.998866701169882 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0777699387666417 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.0989246383037904 NA FALSE NA 0.092 -0.268 . synonymous_variant LOW SGPP2 HGNC 19953 ENST00000321276 4/5 1 NA GAC A 6.589e-05 2:222524961 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 synonymous_variant -0.06931 0.7299 0.13458 0.719381 0.63688361298818 0 0.0122737609427454 FALSE 9.34686e-05 ENSE00001071412_009 ENSE00001071412 009 2 223389618 223389787 + 45 90 35 G T 223389686 4863 69 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTTATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524966 222524967 222524967 exon 24 0.266666666666667 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTTATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 1772 747 0.996959257217068 0.992300596734123 0.994629926975596 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0769957936439453 0.112379934575062 0.946240169225384 0.899942062866092 NA 0.0946878641095039 NA FALSE NA 0.001 0.294 . synonymous_variant LOW SGPP2 HGNC 19953 ENST00000321276 4/5 1 NA TGA G 8.237e-06 2:222524967 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 synonymous_variant 0.342842 0.52264 0.16988 0.719381 0.594208800073735 0 0.0122737609427454 FALSE 4.06286e-06 ENSE00001071412_010 ENSE00001071412 010 2 223389618 223389787 + 45 90 35 C T 223389691 4864 74 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGTCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524971 222524972 222524972 exon 29 0.322222222222222 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGTCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 349 583 0.997255897163981 0.995612854799306 0.996434375981643 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.077292433590858 0.115692192640245 0.946240169225384 0.899942062866092 NA 0.0964923131155513 NA FALSE NA 1 5.597 . missense_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 1 deleterious(0.01) possibly_damaging(0.651) NA GCC C 1.647e-05 2:222524972 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 5.094098 0.99293 0.98081 0.719381 0.996733353457226 0 0.0122737609427454 FALSE 1.21897e-05 ENSE00001071412_011 ENSE00001071412 011 2 223389618 223389787 + 45 90 35 C T 223389692 4865 75 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCTGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524972 222524973 222524973 exon 30 0.333333333333333 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCTGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 263 61 0.999843418423038 1 0.999921709211519 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0798799548499146 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.0999796463454269 NA FALSE NA 0.001 -1.892 rs111981491 synonymous_variant LOW SGPP2 HGNC 19953 ENST00000321276 4/5 rs111981491 1 T:0.0076 T:0.0008 T:0.0144 NA T:0.001 T:0.0258 T:0 T:0.0018 T:0.0222 CCG C 0.013 2:222524973 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 synonymous_variant 1.964614 0.25228 0.02181 0.719381 0.446607553478273 0 0.0122737609427454 FALSE 0.0135925 ENSE00001071412_012 ENSE00001071412 012 2 223389618 223389787 + 45 90 35 G T 223389693 4866 76 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCTTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524973 222524974 222524974 exon 31 0.344444444444444 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCTTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 378 302 0.995510158501682 1 0.997755079250841 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0755466949285587 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.0978130163847489 NA FALSE NA 0.902 0.813 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:222524974 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 1.095238 0.27989 0.34453 0.719381 0.87850709658069 0 0.0122737609427454 FALSE 4.06319e-06 ENSE00001071412_013 ENSE00001071412 013 2 223389618 223389787 + 45 90 35 G A 223389693 4867 76 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCATGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524973 222524974 222524974 exon 31 0.344444444444444 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCATGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 120 407 0.99872052786597 1 0.999360263932985 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.078757064292847 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.0994182010668931 NA FALSE NA 0.902 0.813 NA NA NA SGPP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SGPP2 NA NA NA ENSG00000163082 ENSE00001071412 missense_variant 2.165129 0.2872 0.4163 0.719381 0.997976644461922 0 0.0122737609427454 FALSE 0.000150338 ENSE00001071412_014 ENSE00001071412 014 2 223389618 223389787 + 45 90 35 G A 223389695 4868 78 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTAGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524975 222524976 222524976 exon 33 0.366666666666667 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTAGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 85 97 1 1 1 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0800365364268769 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.100057937133908 NA FALSE NA 0.744 0.473 . synonymous_variant LOW SGPP2 HGNC 19953 ENST00000321276 4/5 1 NA TGG G 8.237e-06 2:222524976 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 synonymous_variant 0.935965 0.25189 0.28511 0.719381 0.700604373447221 0 0.0122737609427454 FALSE 1.21895e-05 ENSE00001071412_015 ENSE00001071412 015 2 223389618 223389787 + 45 90 35 T C 223389708 4869 91 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCCTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524988 222524989 222524989 exon -45 0.511111111111111 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCCTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 278 317 0.997908901660019 0.994977841468929 0.996443371564474 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0779454380868957 0.115057179309868 0.946240169225384 0.899942062866092 NA 0.0965013086983817 NA FALSE NA 0.251 0.552 . synonymous_variant LOW SGPP2 HGNC 19953 ENST00000321276 4/5 1 NA CTT T 1.647e-05 2:222524989 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 synonymous_variant 0.288955 0.48411 0.09691 0.719381 0.753404094952219 0 0.0122737609427454 FALSE 8.12506e-06 ENSE00001071412_016 ENSE00001071412 016 2 223389618 223389787 + 45 90 35 T A 223389714 4870 97 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGAGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524994 222524995 222524995 exon -39 0.577777777777778 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGAGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 341 282 1 1 1 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0800365364268769 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.100057937133908 NA FALSE NA 1 1.53 rs139253179 missense_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 rs139253179 1 tolerated(0.42) benign(0.01) NA A:0.0002 A:0 GTG T 2.471e-05 2:222524995 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 1.65975 0.96731 0.83639 0.719381 0.843617947850408 0 0.0122737609427454 FALSE 2.4377e-05 ENSE00001071412_017 ENSE00001071412 017 2 223389618 223389787 + 45 90 35 G T 223389715 4871 98 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTTTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222524995 222524996 222524996 exon -38 0.588888888888889 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTTTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 140 929 0.98430938382648 0.994167223477961 0.989238303652221 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0643459202533571 0.1142465613189 0.946240169225384 0.899942062866092 NA 0.0892962407861286 NA FALSE NA 1 2.274 . missense_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 1 deleterious(0) possibly_damaging(0.797) NA TGT G 8.236e-06 2:222524996 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 5.976028 0.9746 0.92689 0.719381 0.99001400174852 0 0.0122737609427454 FALSE 2.03156e-05 ENSE00001071412_018 ENSE00001071412 018 2 223389618 223389787 + 45 90 35 G C 223389725 4872 108 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGCCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222525005 222525006 222525006 exon -28 0.7 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGCCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 863 142 0.991546864931851 0.994389949393943 0.992968407162897 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0715834013587276 0.114469287234882 0.946240169225384 0.899942062866092 NA 0.0930263442968049 NA FALSE NA 0.008 -1.076 . missense_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 1 deleterious(0) probably_damaging(1) NA GGC G 2.471e-05 2:222525006 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 5.301198 0.89577 0.14768 0.719381 0.995922107571611 0 0.0122737609427454 FALSE 2.43811e-05 ENSE00001071412_019 ENSE00001071412 019 2 223389618 223389787 + 45 90 35 C G 223389728 4873 111 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTGTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222525008 222525009 222525009 exon -25 0.733333333333333 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTGTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 175 534 0.99291917324224 0.989794460225086 0.991356816733663 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0729557096691172 0.109873798066025 0.946240169225384 0.899942062866092 NA 0.091414753867571 NA FALSE NA 0.478 -0.143 . synonymous_variant LOW SGPP2 HGNC 19953 ENST00000321276 4/5 1 NA TCT C 8.236e-06 2:222525009 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 synonymous_variant 1.492202 0.89012 0.58291 0.719381 0.765897331051558 0 0.0122737609427454 FALSE 8.12665e-06 ENSE00001071412_020 ENSE00001071412 020 2 223389618 223389787 + 45 90 35 C A 223389733 4874 116 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACAATGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222525013 222525014 222525014 exon -20 0.788888888888889 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACAATGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 242 15 0.841824483707631 1 0.920912241853815 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA -0.0781389798654926 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.0209701789877233 NA FALSE NA 0.994 2.924 . missense_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 1 deleterious(0.02) benign(0.33) NA ACT C 2.471e-05 2:222525014 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 3.509617 0.9823 0.94358 0.719381 0.980248287194029 0 0.0122737609427454 FALSE 1.62554e-05 ENSE00001071412_023 ENSE00001071412 023 2 223389618 223389787 + 45 90 35 A G 223389742 4877 125 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCGTACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222525022 222525023 222525023 exon -11 0.888888888888889 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCGTACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 912 91 0.989337790548435 0.959728371720746 0.974533081134591 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0693743269753121 0.0798077095616855 0.946240169225384 0.899942062866092 NA 0.0745910182684988 NA FALSE NA 1 8.705 rs140192517 missense_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 rs140192517 1 deleterious(0) probably_damaging(1) NA G:0.0002 G:0 CAT A 1.647e-05 2:222525023 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 5.805102 0.99098 0.99093 0.719381 0.997427528246559 0 0.0122737609427454 FALSE NA ENSE00001071412_026 ENSE00001071412 026 2 223389618 223389787 + 45 90 35 T C 223389751 4880 134 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCCGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 222525031 222525032 222525032 exon -2 0.988888888888889 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCCGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 26 630 0.8 0.997481292092872 0.898740646046436 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA -0.119963463573123 0.117560629933811 0.946240169225384 0.899942062866092 NA -0.00120141681965619 NA FALSE NA 1 7.499 . missense_variant&splice_region_variant MODERATE SGPP2 HGNC 19953 ENST00000321276 4/5 1 deleterious(0) probably_damaging(1) NA CTG T 8.236e-06 2:222525032 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 missense_variant 6.430254 0.99036 0.98452 0.719381 0.999104427569972 0 0.0122737609427454 FALSE 4.07551e-06 ENSE00001071412_028 ENSE00001071412 028 2 223389618 223389787 + 45 90 35 G A 223389776 4882 159 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTATGGTGATTGTT 222524898 222525068 222525056 222525057 222525057 downstr_intron 24 1.70588235294118 TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTATGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT mutant NA NA NA NA NA 85 43 1 1 1 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 NA NA 0.0800365364268769 0.120079337840939 0.946240169225384 0.899942062866092 NA 0.100057937133908 NA FALSE NA 0 0.028 . intron_variant MODIFIER SGPP2 HGNC 19953 ENST00000321276 4/4 rs370178201 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 TGT G 0.0002897 2:222525057 SGPP2 HGNC Symbol protein_coding 136431 ENSG00000163082 ENSE00001071412 intron_variant 0.119698 0.22495 0.06243 0.093477 0.672175448684771 0.0708924 0.0122737609427454 FALSE 0.000274438 ENSE00001071412_BRK ENSE00001071412 BRK 2 223389618 223389787 + 45 90 35 A,G; T,T NA NA NA TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACTTTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGCCAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT 222524898 222525068 NA NA NA NA NA NA TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACTTTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGCCAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT TCTGAGTGTGATCTAATTCCCTTGTTTTTTCTCCTTCCCCCACAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGTAAGGCTTTGTGGTCAGGTCTTGTGGTGATTGTT control 160 171 0 0 0 987 98 0.0294669922690767 0 0.0147334961345384 0.930590830846046 0.961889507604721 0.919963463573123 0.879920662159061 -0.930590830846046 -0.961889507604721 -0.890496471304046 -0.879920662159061 0.946240169225384 0.899942062866092 -0.946240169225384 -0.885208566731554 0.0610316024938301 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SGPP2 NA NA NA ENSG00000163082 ENSE00001071412 NA NA NA NA NA NA NA 0.0122737609427454 FALSE NA ENSE00001072659_000 ENSE00001072659 000 3 4693765 4693934 + 42 96 32 NA NA NA NA NA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 NA NA NA NA NA NA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA natural 34 41 0.998360585424868 0.999741189225426 0.999050887325147 1799 2015 0.95938668461433 0.982503521424423 0.970945103019376 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 0 0 0 0 0.999050887325147 0.970945103019376 0 0 0 FALSE FALSE NA NA NA NA NA ITPR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR1 NA NA NA ENSG00000150995 ENSE00003556322 NA NA NA NA NA NA NA 0.999999999994095 TRUE NA ENSE00001072659_001 ENSE00001072659 001 3 4693765 4693934 + 42 96 32 T C 4693782 25 18 GTAGGTTGACATTTCATCGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652097 4652098 4652098 upstr_intron -25 -0.571428571428571 GTAGGTTGACATTTCATCGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 25 888 1 0.998047822983624 0.999023911491812 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0406133153856701 0.0155443015592016 0.999050887325147 0.970945103019376 NA 0.0280788084724359 NA FALSE NA 0 0.268 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 10/58 1 NA TTG T,C 8.271e-06 3:4652098 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 intron_variant 0.118418 0.20783 0.00708 0.099367 0.359028040904144 0.0455939 0.999999999994095 TRUE NA ENSE00001072659_003 ENSE00001072659 003 3 4693765 4693934 + 42 96 32 G T 4693815 27 51 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCATCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652130 4652131 4652131 exon 9 0.09375 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCATCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 220 86 1 0.998156542939086 0.999078271469543 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0406133153856701 0.0156530215146634 0.999050887325147 0.970945103019376 NA 0.0281331684501668 NA FALSE NA 0.068 -0.703 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 11/59 rs372668740 1 benign(0.008) NA T:0.0003 T:0 AGC G,T 2.48e-05 3:4652131 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 missense_variant -0.399274 0.9334 0.23667 0.638212 0.507093602980878 0 0.999999999994095 TRUE NA ENSE00001072659_004 ENSE00001072659 004 3 4693765 4693934 + 42 96 32 C T 4693828 28 64 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTTGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652143 4652144 4652144 exon 22 0.229166666666667 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTTGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 629 88 1 0.998198539547959 0.999099269773979 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0406133153856701 0.015695018123536 0.999050887325147 0.970945103019376 NA 0.0281541667546031 NA FALSE NA 0.892 1.7 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 11/59 rs377049416&COSM1211129&COSM1211127&COSM1211128 1 probably_damaging(0.999) NA T:0 T:0.0001 TCG C,T 8.27e-06 3:4652144 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 missense_variant 7.181913 0.9826 0.92143 0.638212 0.999250070595844 0 0.999999999994095 TRUE NA ENSE00001072659_005 ENSE00001072659 005 3 4693765 4693934 + 42 96 32 G A 4693829 29 65 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCAGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652144 4652145 4652145 exon 23 0.239583333333333 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCAGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 902 41 0.999451214865485 0.996122857564551 0.997787036215018 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0400645302511552 0.0136193361401286 0.999050887325147 0.970945103019376 NA 0.0268419331956419 NA FALSE NA 1 9.786 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 11/59 1 probably_damaging(0.996) NA CGG G,A 1.654e-05 3:4652145 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 missense_variant 5.984694 0.99458 0.99341 0.638212 0.999597026110727 0 0.999999999994095 TRUE 1.64088e-05 ENSE00001072659_006 ENSE00001072659 006 3 4693765 4693934 + 42 96 32 C T 4693833 30 69 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGTGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652148 4652149 4652149 exon 27 0.28125 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGTGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 223 11 0.993048177418941 0.95580630414355 0.974427240781245 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0336614928046107 -0.0266972172808725 0.999050887325147 0.970945103019376 NA 0.00348213776186912 NA FALSE NA 0 -3.778 . synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 11/59 rs370157764 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0008 T:0.0004 GCG C,T 0.0002977 3:4652149 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 synonymous_variant 1.992958 0.46015 0.01827 0.638212 0.509605381450815 0 0.999999999994095 TRUE 0.000299386 ENSE00001072659_007 ENSE00001072659 007 3 4693765 4693934 + 42 96 32 G A 4693834 31 70 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCAGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652149 4652150 4652150 exon 28 0.291666666666667 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCAGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 598 804 0.882338262927446 0.998759731822822 0.940548997375134 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA -0.0770484216868836 0.0162562103983993 0.999050887325147 0.970945103019376 NA -0.0303961056442422 NA FALSE NA 1 9.786 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 11/59 1 probably_damaging(1) NA CGG G,A 1.654e-05 3:4652150 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 missense_variant 6.751178 0.99458 0.99341 0.638212 0.999426989381952 0 0.999999999994095 TRUE NA ENSE00001072659_009 ENSE00001072659 009 3 4693765 4693934 + 42 96 32 G T 4693842 33 78 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGTTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652157 4652158 4652158 exon 36 0.375 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGTTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 99 2174 1 0.998551510149891 0.999275755074945 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0406133153856701 0.0160479887254678 0.999050887325147 0.970945103019376 NA 0.028330652055569 NA FALSE NA 0 -2.243 . synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 11/59 1 NA GGT G,T 8.269e-06 3:4652158 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 synonymous_variant 0.445408 0.11598 0.03945 0.706548 0.462688068654298 0 0.999999999994095 TRUE 4.09276e-06 ENSE00001072659_010 ENSE00001072659 010 3 4693765 4693934 + 42 96 32 C T 4693854 34 90 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGTCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652169 4652170 4652170 exon 48 0.5 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGTCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 103 200 1 1 1 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0406133153856701 0.0174964785755772 0.999050887325147 0.970945103019376 NA 0.0290548969806237 NA FALSE NA 1 0.951 . synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 11/59 1 NA GCC C,T 2.481e-05 3:4652170 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 synonymous_variant 1.655378 0.97492 0.8663 0.706548 0.653432509195302 0 0.999999999994095 TRUE 2.04599e-05 ENSE00001072659_011 ENSE00001072659 011 3 4693765 4693934 + 42 96 32 C T 4693855 35 91 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCTTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652170 4652171 4652171 exon -48 0.510416666666667 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCTTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 575 215 1 0.985760509257271 0.992880254628635 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0406133153856701 0.003256987832848 0.999050887325147 0.970945103019376 NA 0.0219351516092591 NA FALSE NA 1 4.008 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 11/59 rs574185072 1 probably_damaging(0.999) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 8.269e-06 3:4652171 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 missense_variant 6.39905 0.99442 0.96769 0.706548 0.998404439851208 0 0.999999999994095 TRUE 4.09799e-06 ENSE00001072659_012 ENSE00001072659 012 3 4693765 4693934 + 42 96 32 G A 4693862 36 98 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCATTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652177 4652178 4652178 exon -41 0.583333333333333 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCATTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 55 19 1 1 1 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0406133153856701 0.0174964785755772 0.999050887325147 0.970945103019376 NA 0.0290548969806237 NA FALSE NA 1 9.786 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 11/59 1 probably_damaging(0.998) NA CGT G,A 8.269e-06 3:4652178 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 missense_variant 7.288769 0.99458 0.99341 0.706548 0.999402507554958 0 0.999999999994095 TRUE NA ENSE00001072659_014 ENSE00001072659 014 3 4693765 4693934 + 42 96 32 C T 4693880 38 116 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCATGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652195 4652196 4652196 exon -23 0.770833333333333 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCATGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 149 1076 0.934607363659294 0.995564909284602 0.965086136471948 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA -0.0247793209550359 0.0130613878601794 0.999050887325147 0.970945103019376 NA -0.00585896654742823 NA FALSE NA 1 7.712 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 11/59 rs201693219 1 probably_damaging(0.999) NA T:0 T:0.0004 ACG C,T 3.307e-05 3:4652196 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 missense_variant 7.14208 0.99622 0.99681 0.706548 0.999312836918245 0 0.999999999994095 TRUE 3.70703e-05 ENSE00001072659_015 ENSE00001072659 015 3 4693765 4693934 + 42 96 32 G A 4693881 39 117 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACAGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652196 4652197 4652197 exon -22 0.78125 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACAGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 1047 603 0.991127479728353 0.99947508652604 0.995301283127197 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0317407951140234 0.0169715651016172 0.999050887325147 0.970945103019376 NA 0.0243561801078203 NA FALSE NA 0.004 -1.464 rs28565126 synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 11/59 rs28565126 1 A:0.0018 A:0.0068 A:0 NA A:0 A:0 A:0 A:0.0052 A:0 CGG G,A 0.0004713 3:4652197 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 synonymous_variant 1.796166 0.17455 0.0113 0.706548 0.772707942340733 0 0.999999999994095 TRUE 0.000375023 ENSE00001072659_016 ENSE00001072659 016 3 4693765 4693934 + 42 96 32 G A 4693884 40 120 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGACATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652199 4652200 4652200 exon -19 0.8125 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGACATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 798 275 0.870351279159004 0.999583751886919 0.934967515522962 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA -0.0890354054553256 0.0170802304624963 0.999050887325147 0.970945103019376 NA -0.0359775874964147 NA FALSE NA 0.003 -1.277 . synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 11/59 rs374618053 1 NA GGC G,A 3.307e-05 3:4652200 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 synonymous_variant 1.086349 0.89647 0.17737 0.706548 0.759912669700076 0 0.999999999994095 TRUE 3.72865e-05 ENSE00001072659_017 ENSE00001072659 017 3 4693765 4693934 + 42 96 32 G A 4693910 41 146 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAACAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 4652225 4652226 4652226 downstr_intron 8 1.25806451612903 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAACAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 386 88 1 0.99956636100978 0.99978318050489 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0406133153856701 0.0170628395853569 0.999050887325147 0.970945103019376 NA 0.0288380774855135 NA FALSE NA 0 0.849 . splice_region_variant&intron_variant LOW ITPR1 HGNC 6180 ENST00000423119 11/58 1 NA AGC G,A 8.27e-06 3:4652226 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 splice_region_variant 0.535163 0.86864 0.17758 0.099367 0.591602460251733 0.598534 0.999999999994095 TRUE 4.30244e-06 ENSE00001072659_018 ENSE00001072659 018 3 4693765 4693934 + 42 96 32 C G 4693917 42 153 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCGTGTGGTTTTCTCTTTCA 4652080 4652250 4652232 4652233 4652233 downstr_intron 15 1.48387096774194 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCGTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 217 807 0.980362284998511 1 0.990181142499256 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0209756003841816 0.0174964785755772 0.999050887325147 0.970945103019376 NA 0.0192360394798794 NA FALSE NA 0 -0.006 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 11/58 1 NA CCT C,G 1.655e-05 3:4652233 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 intron_variant -0.194177 0.23561 0.0856 0.099367 0.39122188440947 0.046323 0.999999999994095 TRUE 8.92347e-06 ENSE00001072659_019 ENSE00001072659 019 3 4693765 4693934 + 42 96 32 G A 4693922 43 158 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGATTTTCTCTTTCA 4652080 4652250 4652237 4652238 4652238 downstr_intron 20 1.64516129032258 GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGATTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA mutant NA NA NA NA NA 255 137 0.972447435789957 1 0.986223717894979 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 NA NA 0.0130607511756274 0.0174964785755772 0.999050887325147 0.970945103019376 NA 0.0152786148756023 NA FALSE NA 0.002 0.091 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 11/58 1 NA GGT G,A 8.278e-06 3:4652238 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00003556322 intron_variant 0.035244 0.22883 0.01063 0.099367 0.633614517082228 0.046323 0.999999999994095 TRUE 4.5119e-06 ENSE00001072659_BRK ENSE00001072659 BRK 3 4693765 4693934 + 42 96 32 A,G; T,T NA NA NA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCTTGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGCCAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA 4652080 4652250 NA NA NA NA NA NA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCTTGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGCCAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA GTAGGTTGACATTTCATTGACTCCTGTTGATCATTCTTGCAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCAGCAGAGGTAAGTAGCAGCTCCTGTGGTTTTCTCTTTCA control 90 21 0 0 0 622 16 0 0.0325930623712626 0.0162965311856313 0.998360585424868 0.999741189225426 0.95938668461433 0.982503521424423 -0.998360585424868 -0.999741189225426 -0.95938668461433 -0.94991045905316 0.999050887325147 0.970945103019376 -0.999050887325147 -0.954648571833745 0.0444023154914024 TRUE TRUE NA NA NA NA NA ITPR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR1 NA NA NA ENSG00000150995 ENSE00003556322 NA NA NA NA NA NA NA 0.999999999994095 TRUE NA ENSE00001072846_000 ENSE00001072846 000 2 71743251 71743420 + 59 63 48 NA NA NA NA NA CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA 71516120 71516290 NA NA NA NA NA NA CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA natural 293 479 0.85 0.85 0.85 1104 1792 0.957447031850624 0.807895371539044 0.882671201694834 0.85 0.85 0.957447031850624 0.807895371539044 0 0 0 0 0.85 0.882671201694834 0 0 0 FALSE FALSE NA NA NA NA NA DYSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYSF NA NA NA ENSG00000135636 ENSE00001072846 NA NA NA NA NA NA NA 1.00255104624413e-15 FALSE NA ENSE00001072846_003 ENSE00001072846 003 2 71743251 71743420 + 59 63 48 C T 71743276 1558 26 CTCCCTGGCCTGAGGGATCAGCAGGTACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA 71516120 71516290 71516145 71516146 71516146 upstr_intron -34 -0.559322033898305 CTCCCTGGCCTGAGGGATCAGCAGGTACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA mutant NA NA NA NA NA 36 112 0.982813380466864 0.938615222402503 0.960714301434683 0.85 0.85 0.957447031850624 0.807895371539044 NA NA 0.0253663486162393 0.130719850863459 0.85 0.882671201694834 NA 0.0780430997398494 NA FALSE NA 0 -0.679 rs115184725 intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 8/55 rs115184725&DYSF:c.793-34C>T 1 T:0.0090 T:0.0023&T:0.0023 T:0.0144&T:0.0144 NA T:0&T:0 T:0.0278&T:0.0278 T:0.0041&T:0.0041 T:0.0052&T:0.0052 T:0.0293&T:0.0293 GCA C,T 0.019 2:71516146 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072846 intron_variant 0.181719 0.14219 0.00428 0.062308 0.638365514002295 0.0761962 1.00255104624413e-15 FALSE 0.0199314 ENSE00001072846_005 ENSE00001072846 005 2 71743251 71743420 + 59 63 48 A G 71743283 1560 33 CTCCCTGGCCTGAGGGATCAGCAGGCACTGATGTGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA 71516120 71516290 71516152 71516153 71516153 upstr_intron -27 -0.440677966101695 CTCCCTGGCCTGAGGGATCAGCAGGCACTGATGTGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA mutant NA NA NA NA NA 2389 15 0.801011260544672 0.8 0.800505630272336 0.85 0.85 0.957447031850624 0.807895371539044 NA NA -0.156435771305953 -0.00789537153904363 0.85 0.882671201694834 NA -0.0821655714224981 NA FALSE NA 0 -0.651 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 8/55 rs201128463 1 G:0.0032 G:0 G:0 NA G:0 G:0 G:0.0164 G:0 G:0.0021 TAT A,G 0.003591 2:71516153 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072846 intron_variant -0.230264 0.14619 0.01841 0.062308 0.512592467254834 0.0761962 1.00255104624413e-15 FALSE 0.00338307 ENSE00001072846_009 ENSE00001072846 009 2 71743251 71743420 + 59 63 48 A T 71743323 1564 73 CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCATCTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA 71516120 71516290 71516192 71516193 71516193 exon 14 0.222222222222222 CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCATCTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA mutant NA NA NA NA NA 284 30 0.916691702325999 0.804818697855581 0.86075520009079 0.85 0.85 0.957447031850624 0.807895371539044 NA NA -0.0407553295246253 -0.00307667368346287 0.85 0.882671201694834 NA -0.0219160016040441 NA FALSE NA 1 5.649 . missense_variant MODERATE DYSF HGNC 3097 ENST00000409582 9/56 1 deleterious(0) probably_damaging(0.991) NA AAC A,T 8.236e-06 2:71516193 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072846 missense_variant 6.237755 0.99107 0.9789 0.719381 0.990607671926635 0 1.00255104624413e-15 FALSE 4.06095e-06 ENSE00001072846_015 ENSE00001072846 015 2 71743251 71743420 + 59 63 48 T C 71743376 1570 126 CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTACGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA 71516120 71516290 71516245 71516246 71516246 downstr_intron 4 1.08510638297872 CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTACGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA mutant NA NA NA NA NA 78 466 0.966154699760017 0.979125078712879 0.972639889236448 0.85 0.85 0.957447031850624 0.807895371539044 NA NA 0.00870766790939215 0.171229707173836 0.85 0.882671201694834 NA 0.089968687541614 NA FALSE NA 0 -4.298 rs11903960 splice_region_variant&intron_variant LOW DYSF HGNC 3097 ENST00000409582 9/55 rs11903960&DYSF:c.855+4T>C 1 C:0.0775 C:0.1369&C:0.1369 C:0.072&C:0.072 NA C:0.0278&C:0.0278 C:0.0885&C:0.0885 C:0.0409&C:0.0409 C:0.1251&C:0.1251 C:0.0926&C:0.0926 ATG C,C 0.078 2:71516246 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072846 splice_region_variant 0.134816 0.38748 0.00574 0.091178 0.622122019527484 0.152235 1.00255104624413e-15 FALSE 0.0790171 ENSE00001072846_016 ENSE00001072846 016 2 71743251 71743420 + 59 63 48 G C 71743377 1571 127 CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATCTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA 71516120 71516290 71516246 71516247 71516247 downstr_intron 5 1.1063829787234 CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATCTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA CTCCCTGGCCTGAGGGATCAGCAGGCACTGATATGTCTCTCTTTGCTCTGAACCAACAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTATGTCTCAGCAGTCAAAGTGTTCTCCGTGGGCTGTATGTATGCACA mutant NA NA NA NA NA 47 108 0 0 0 0.85 0.85 0.957447031850624 0.807895371539044 NA NA -0.957447031850624 -0.807895371539044 0.85 0.882671201694834 NA -0.882671201694834 NA TRUE NA 0.989 3.548 . splice_region_variant&intron_variant LOW DYSF HGNC 3097 ENST00000409582 9/55 1 NA TGT G,C 8.236e-06 2:71516247 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072846 splice_region_variant 0.94679 0.97051 0.94316 0.091178 0.88706799785841 0.696672 1.00255104624413e-15 FALSE 4.06227e-06 ENSE00001072849_000 ENSE00001072849 000 2 71762095 71762264 + 56 69 45 NA NA NA NA NA GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 NA NA NA NA NA NA GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC natural 59 111 0.992058990037976 0.979041511439083 0.985550250738529 1829 2716 0.980637070675805 0.998813497017824 0.989725283846815 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 0 0 0 0 0.985550250738529 0.989725283846815 0 0 0 FALSE FALSE NA NA NA NA NA DYSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYSF NA NA NA ENSG00000135636 ENSE00001072849 NA NA NA NA NA NA NA 1.00255104624413e-15 FALSE NA ENSE00001072849_001 ENSE00001072849 001 2 71762095 71762264 + 56 69 45 T A 71762119 1575 25 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCTAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71534988 71534989 71534989 upstr_intron -32 -0.553571428571429 GGAGCCCAGAGTCCCCATGGAGCTAGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 701 27 0.971955236876692 1 0.985977618438346 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA -0.00868183379911314 0.00118650298217593 0.985550250738529 0.989725283846815 NA -0.0037476654084686 NA FALSE NA 0 -1.043 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 14/55 1 NA TTG C,A 8.236e-06 2:71534989 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.333607 0.16615 0.05812 0.062308 0.530159932337547 0.0448725 1.00255104624413e-15 FALSE 4.06197e-06 ENSE00001072849_002 ENSE00001072849 002 2 71762095 71762264 + 56 69 45 T C 71762122 1576 28 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGGTCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71534991 71534992 71534992 upstr_intron -29 -0.5 GGAGCCCAGAGTCCCCATGGAGCTTGACCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 1647 200 0.995684819711319 0.986389608747825 0.991037214229572 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0150477490355138 -0.0124238882699994 0.985550250738529 0.989725283846815 NA 0.00131193038275718 NA FALSE NA 0 -1.43 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 14/55 1 NA ATC T,C 8.236e-06 2:71534992 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.004964 0.08301 0.00853 0.062308 0.481905493614806 0.0448725 1.00255104624413e-15 FALSE 4.06138e-06 ENSE00001072849_003 ENSE00001072849 003 2 71762095 71762264 + 56 69 45 C A 71762123 1577 29 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTTATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71534992 71534993 71534993 upstr_intron -28 -0.482142857142857 GGAGCCCAGAGTCCCCATGGAGCTTGATAAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 471 290 0.996072463525252 0.998526481833491 0.997299472679372 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0154353928494474 -0.000287015184332828 0.985550250738529 0.989725283846815 NA 0.00757418883255728 NA FALSE NA 0 -0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:71534993 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.478122 0.30607 0.08158 0.062308 0.762883644824313 0.0455939 1.00255104624413e-15 FALSE 8.12374e-06 ENSE00001072849_004 ENSE00001072849 004 2 71762095 71762264 + 56 69 45 C T 71762123 1578 29 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTAATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71534992 71534993 71534993 upstr_intron -28 -0.482142857142857 GGAGCCCAGAGTCCCCATGGAGCTTGATTAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 1197 487 0.999862397337655 0.999675113843406 0.99976875559053 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0192253266618496 0.000861616825581613 0.985550250738529 0.989725283846815 NA 0.0100434717437156 NA FALSE NA 0 -0.34 NA NA NA DYSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYSF NA NA NA ENSG00000135636 ENSE00001072849 intron_variant 0.399702 0.28166 0.08205 0.062308 0.697539416443091 0.0455939 1.00255104624413e-15 FALSE 4.06187e-06 ENSE00001072849_005 ENSE00001072849 005 2 71762095 71762264 + 56 69 45 A G 71762125 1579 31 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGCTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71534994 71534995 71534995 upstr_intron -26 -0.446428571428571 GGAGCCCAGAGTCCCCATGGAGCTTGATCAGCTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 357 114 0.991931623050487 0.999665468793345 0.995798545921916 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0112945523746822 0.00085197177552121 0.985550250738529 0.989725283846815 NA 0.00607326207510173 NA FALSE NA 0 -0.329 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 14/55 1 NA AAC A,G 3.295e-05 2:71534995 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.370495 0.22599 0.03517 0.062308 0.680770663108014 0.0455939 1.00255104624413e-15 FALSE 5.68602e-05 ENSE00001072849_006 ENSE00001072849 006 2 71762095 71762264 + 56 69 45 T G 71762127 1580 33 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACACGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71534996 71534997 71534997 upstr_intron -24 -0.410714285714286 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACGTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 302 203 0.998629278856763 1 0.999314639428382 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0179922081809584 0.00118650298217593 0.985550250738529 0.989725283846815 NA 0.00958935558156715 NA FALSE NA 0.213 1.539 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 14/55 1 NA CTT T,G 8.236e-06 2:71534997 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.465222 0.44539 0.3897 0.062308 0.671558784901174 0.486674 1.00255104624413e-15 FALSE 4.06141e-06 ENSE00001072849_007 ENSE00001072849 007 2 71762095 71762264 + 56 69 45 C T 71762131 1581 37 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGAACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535000 71535001 71535001 upstr_intron -20 -0.339285714285714 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTTCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 267 563 1 0.990787694618789 0.995393847309395 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0193629293241949 -0.00802580239903472 0.985550250738529 0.989725283846815 NA 0.0056685634625801 NA FALSE NA 0 -0.327 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 14/55 1 NA TCC C,T 1.647e-05 2:71535001 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant -0.003067 0.18502 0.04052 0.062308 0.55527695243996 0.0656782 1.00255104624413e-15 FALSE 8.12242e-06 ENSE00001072849_008 ENSE00001072849 008 2 71762095 71762264 + 56 69 45 C T 71762133 1582 39 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGAGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535002 71535003 71535003 upstr_intron -18 -0.303571428571429 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCTCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 505 559 0.95645535764104 1 0.97822767882052 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA -0.0241817130347654 0.00118650298217593 0.985550250738529 0.989725283846815 NA -0.0114976050262947 NA FALSE NA 0 -0.35 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 14/55 1 NA CCC C,T 8.236e-06 2:71535003 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.069315 0.16615 0.01923 0.062308 0.592278764442958 0.0656782 1.00255104624413e-15 FALSE 4.06118e-06 ENSE00001072849_009 ENSE00001072849 009 2 71762095 71762264 + 56 69 45 C T 71762176 1583 82 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCATCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535045 71535046 71535046 exon 26 0.376811594202899 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGATGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 582 680 1 0.992849286129097 0.996424643064549 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0193629293241949 -0.00596421088872667 0.985550250738529 0.989725283846815 NA 0.00669935921773412 NA FALSE NA 0.998 3.31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:71535046 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 missense_variant 4.783385 0.95849 0.77642 0.706548 0.987947034489894 0 1.00255104624413e-15 FALSE 6.09142e-05 ENSE00001072849_010 ENSE00001072849 010 2 71762095 71762264 + 56 69 45 C A 71762176 1584 82 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCTTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535045 71535046 71535046 exon 26 0.376811594202899 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGAAGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 1175 538 0.993035571401767 1 0.996517785700883 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0123985007259615 0.00118650298217593 0.985550250738529 0.989725283846815 NA 0.00679250185406871 NA FALSE NA 0.998 3.31 NA NA NA DYSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYSF NA NA NA ENSG00000135636 ENSE00001072849 missense_variant 5.268801 0.95567 0.62236 0.706548 0.975129286909426 0 1.00255104624413e-15 FALSE NA ENSE00001072849_011 ENSE00001072849 011 2 71762095 71762264 + 56 69 45 G A 71762177 1585 83 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCTGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535046 71535047 71535047 exon 27 0.391304347826087 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACAGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 872 308 0.999952796328026 0.977699964337411 0.988826380332718 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0193157256522208 -0.0211135326804134 0.985550250738529 0.989725283846815 NA -0.000898903514096272 NA FALSE NA 0 -2.619 rs150093305 synonymous_variant LOW DYSF HGNC 3097 ENST00000409582 15/56 rs150093305 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0009 A:0 CGG G,A 8.236e-05 2:71535047 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 synonymous_variant 2.030912 0.57007 0.03742 0.706548 0.548251623856249 0 1.00255104624413e-15 FALSE 6.09127e-05 ENSE00001072849_012 ENSE00001072849 012 2 71762095 71762264 + 56 69 45 C A 71762204 1586 110 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTTATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535073 71535074 71535074 exon -16 0.782608695652174 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATAACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 256 980 0.997563415997785 0.952966939490301 0.975265177744043 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0169263453219802 -0.0458465575275226 0.985550250738529 0.989725283846815 NA -0.0144601061027712 NA FALSE NA 1 1.853 . synonymous_variant LOW DYSF HGNC 3097 ENST00000409582 15/56 COSM3582968&COSM3582967 1 NA TCA C,A 8.236e-06 2:71535074 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 synonymous_variant 2.199749 0.97264 0.82758 0.706548 0.794255070350214 0 1.00255104624413e-15 FALSE 4.06065e-06 ENSE00001072849_013 ENSE00001072849 013 2 71762095 71762264 + 56 69 45 C T 71762212 1587 118 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAAGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535081 71535082 71535082 exon -8 0.898550724637681 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCTTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 1821 175 0.971426763583935 1 0.985713381791967 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA -0.00921030709187054 0.00118650298217593 0.985550250738529 0.989725283846815 NA -0.0040119020548473 NA FALSE NA 1 4.263 . missense_variant MODERATE DYSF HGNC 3097 ENST00000409582 15/56 rs552258353 1 tolerated(0.12) probably_damaging(0.962) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCT C,T 1.647e-05 2:71535082 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 missense_variant 6.866933 0.98372 0.93123 0.706548 0.997857127299101 0 1.00255104624413e-15 FALSE 1.2182e-05 ENSE00001072849_014 ENSE00001072849 014 2 71762095 71762264 + 56 69 45 A G 71762217 1588 123 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCACGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535086 71535087 71535087 exon -3 0.971014492753623 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCGTGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 148 28 1 1 1 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0193629293241949 0.00118650298217593 0.985550250738529 0.989725283846815 NA 0.0102747161531854 NA FALSE NA 1 4.523 rs141818764 missense_variant&splice_region_variant MODERATE DYSF HGNC 3097 ENST00000409582 15/56 rs141818764 1 deleterious(0.03) benign(0.012) G:0.0014 G:0 G:0.0029 NA G:0 G:0.002 G:0.0031 G:0.0002 G:0.0017 CAT A,G 0.001326 2:71535087 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 missense_variant 3.10313 0.9726 0.92784 0.706548 0.974560621471048 0 1.00255104624413e-15 FALSE 0.00126287 ENSE00001072849_015 ENSE00001072849 015 2 71762095 71762264 + 56 69 45 T C 71762218 1589 124 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACCGTGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535087 71535088 71535088 exon -2 0.985507246376812 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCACGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 238 132 1 0.83481106044673 0.917405530223365 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0193629293241949 -0.164002436571094 0.985550250738529 0.989725283846815 NA -0.0723197536234496 NA FALSE NA 1 3.949 . missense_variant&splice_region_variant MODERATE DYSF HGNC 3097 ENST00000409582 15/56 1 deleterious(0.03) benign(0.07) NA ATG T,C 2.471e-05 2:71535088 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 missense_variant 3.571116 0.97429 0.85553 0.706548 0.974236545243313 0 1.00255104624413e-15 FALSE 1.62427e-05 ENSE00001072849_016 ENSE00001072849 016 2 71762095 71762264 + 56 69 45 G A 71762219 1590 125 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCACTATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535088 71535089 71535089 exon -1 1 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATAGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 1190 320 0.990179622041709 0.823693625304232 0.906936623672971 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.00954255136590421 -0.175119871713592 0.985550250738529 0.989725283846815 NA -0.0827886601738441 NA FALSE NA 1 5.998 rs146064054 missense_variant&splice_region_variant MODERATE DYSF HGNC 3097 ENST00000409582 15/56 rs146064054 1 deleterious(0.01) benign(0.022) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 TGG G,A 4.942e-05 2:71535089 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 missense_variant 4.814542 0.99066 0.96415 0.706548 0.996876119225082 0 1.00255104624413e-15 FALSE 3.24857e-05 ENSE00001072849_017 ENSE00001072849 017 2 71762095 71762264 + 56 69 45 G A 71762222 1591 128 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTTACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535091 71535092 71535092 downstr_intron 3 1.06818181818182 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTAAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 701 762 0.996513905078412 0.989276204811671 0.992895054945042 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0158768344026072 -0.00953729220615296 0.985550250738529 0.989725283846815 NA 0.00316977109822714 NA FALSE NA 1 3.564 . splice_region_variant&intron_variant LOW DYSF HGNC 3097 ENST00000409582 15/55 1 NA TGA G,A 0.0001235 2:71535092 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 splice_region_variant 2.000762 0.96615 0.79338 0.099367 0.906315945306617 0.466095 1.00255104624413e-15 FALSE 0.000142124 ENSE00001072849_018 ENSE00001072849 018 2 71762095 71762264 + 56 69 45 C T 71762225 1592 131 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGACTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535094 71535095 71535095 downstr_intron 6 1.13636363636364 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGTCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 269 467 0.999846913247642 0.997011263058541 0.998429088153092 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0192098425718369 -0.00180223395928292 0.985550250738529 0.989725283846815 NA 0.00870380430627699 NA FALSE NA 0.06 0.221 . splice_region_variant&intron_variant LOW DYSF HGNC 3097 ENST00000409582 15/55 1 NA GCC C,T 8.236e-06 2:71535095 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 splice_region_variant 1.140793 0.40297 0.06992 0.062308 0.698295021200078 0.0937905 1.00255104624413e-15 FALSE 4.06075e-06 ENSE00001072849_019 ENSE00001072849 019 2 71762095 71762264 + 56 69 45 C T 71762226 1593 132 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAAGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535095 71535096 71535096 downstr_intron 7 1.15909090909091 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCTTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 449 1306 0.997602256451112 0.954632585006005 0.976117420728558 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0169651857753065 -0.0441809120118193 0.985550250738529 0.989725283846815 NA -0.0136078631182564 NA FALSE NA 0.002 -0.173 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:71535096 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 splice_region_variant 0.633286 0.19508 0.06918 0.062308 0.524599654571589 0.0937905 1.00255104624413e-15 FALSE 2.03046e-05 ENSE00001072849_020 ENSE00001072849 020 2 71762095 71762264 + 56 69 45 C A 71762226 1594 132 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGATGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535095 71535096 71535096 downstr_intron 7 1.15909090909091 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCATCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 714 681 0.982871400512561 0.873706422755232 0.928288911633897 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.00223432983675642 -0.125107074262592 0.985550250738529 0.989725283846815 NA -0.0614363722129178 NA FALSE NA 0.002 -0.173 NA NA NA DYSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYSF NA NA NA ENSG00000135636 ENSE00001072849 splice_region_variant 0.648781 0.20327 0.07857 0.062308 0.578329807531712 0.0937905 1.00255104624413e-15 FALSE 4.06091e-06 ENSE00001072849_021 ENSE00001072849 021 2 71762095 71762264 + 56 69 45 T C 71762230 1595 136 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCGGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535099 71535100 71535100 downstr_intron 11 1.25 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCCGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 1810 220 0.99538463140984 1 0.99769231570492 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0147475607340349 0.00118650298217593 0.985550250738529 0.989725283846815 NA 0.00796703185810543 NA FALSE NA 0 -0.284 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 15/55 rs548993658 1 NA CTG T,C 1.647e-05 2:71535100 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant -0.246646 0.10432 0.02166 0.062308 0.256732909050554 0.0443366 1.00255104624413e-15 FALSE 8.1215e-06 ENSE00001072849_022 ENSE00001072849 022 2 71762095 71762264 + 56 69 45 C T 71762232 1596 138 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGACAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535101 71535102 71535102 downstr_intron 13 1.29545454545455 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGTCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 733 1153 0.996505528615726 0.996696646345078 0.996601087480402 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0158684579399212 -0.00211685067274592 0.985550250738529 0.989725283846815 NA 0.00687580363358764 NA FALSE NA 0 -0.334 rs4852801 intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 15/55 rs4852801&DYSF:c.1353+13C>T 1 T:0.4577 T:0.4856&T:0.4856 T:0.572&T:0.572 NA T:0.1865&T:0.1865 T:0.67&T:0.67 T:0.3998&T:0.3998 T:0.5315&T:0.5315 T:0.6788&T:0.6788 GCC C,T 0.585 2:71535102 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.171172 0.22575 0.02292 0.062308 0.547206768278783 0.0443366 1.00255104624413e-15 FALSE 0.588079 ENSE00001072849_024 ENSE00001072849 024 2 71762095 71762264 + 56 69 45 C G 71762235 1598 141 GAGCCCCAGGGGCCTCCTTGGGTTTGCTGCGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535104 71535105 71535105 downstr_intron 16 1.36363636363636 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCGCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 158 203 0.984662261831366 0.992747826072899 0.988705043952133 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.00402519115556077 -0.00606567094492461 0.985550250738529 0.989725283846815 NA -0.00102023989468192 NA FALSE NA 0 -1.37 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 15/55 1 NA CCC C,G 8.236e-06 2:71535105 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.05584 0.10318 0.01161 0.062308 0.546148672462382 0.0443366 1.00255104624413e-15 FALSE 4.06098e-06 ENSE00001072849_025 ENSE00001072849 025 2 71762095 71762264 + 56 69 45 G A 71762238 1599 144 GAGCCCCAGGGGCCTCCTTGGGTTTGTTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535107 71535108 71535108 downstr_intron 19 1.43181818181818 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAACAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 376 798 0.999121090215259 1 0.999560545107629 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0184840195394539 0.00118650298217593 0.985550250738529 0.989725283846815 NA 0.00983526126081491 NA FALSE NA 0 -0.517 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 15/55 1 NA AGC G,A 1.647e-05 2:71535108 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.200498 0.20427 0.04477 0.062308 0.545444135500895 0.0443366 1.00255104624413e-15 FALSE 8.12229e-06 ENSE00001072849_026 ENSE00001072849 026 2 71762095 71762264 + 56 69 45 A G 71762240 1600 146 GAGCCCCAGGGGCCTCCTTGGGTTCGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535109 71535110 71535110 downstr_intron 21 1.47727272727273 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCGAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 797 446 0.998844358572777 0.999142117287616 0.998993237930197 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0182072878969718 0.000328620269792301 0.985550250738529 0.989725283846815 NA 0.00926795408338205 NA FALSE NA 0 -0.324 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 15/55 1 NA CAA A,G 2.471e-05 2:71535110 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.20487 0.27299 0.09609 0.062308 0.692414926617528 0.0443366 1.00255104624413e-15 FALSE 3.65509e-05 ENSE00001072849_027 ENSE00001072849 027 2 71762095 71762264 + 56 69 45 C T 71762245 1601 151 GAGCCCCAGGGGCCTCCTTAGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535114 71535115 71535115 downstr_intron 26 1.59090909090909 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCTAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 564 83 0.875659359352607 1 0.937829679676303 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA -0.104977711323198 0.00118650298217593 0.985550250738529 0.989725283846815 NA -0.0518956041705111 NA FALSE NA 0.024 0.449 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 15/55 rs535491988 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 CCA C,T 0.0001483 2:71535115 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.752646 0.25062 0.26477 0.062308 0.785644972942626 0.0443366 1.00255104624413e-15 FALSE 0.000158409 ENSE00001072849_028 ENSE00001072849 028 2 71762095 71762264 + 56 69 45 A G 71762247 1602 153 GAGCCCCAGGGGCCTCCCTGGGTTTGCTGGGGGCAGGAGGCTCACCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGCTAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 71535116 71535117 71535117 downstr_intron 28 1.63636363636364 GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAGGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC mutant NA NA NA NA NA 121 161 1 0.990746068311896 0.995373034155948 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 NA NA 0.0193629293241949 -0.00806742870592814 0.985550250738529 0.989725283846815 NA 0.00564775030913339 NA FALSE NA 0.002 -0.205 . intron_variant MODIFIER DYSF HGNC 3097 ENST00000409582 15/55 rs375251077 1 NA G:0.0005 G:0.0009 AAG A,G 0.00028 2:71535117 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00001072849 intron_variant 0.141531 0.09686 0.00289 0.062308 0.552932655266278 0.0443366 1.00255104624413e-15 FALSE 0.000324939 ENSE00001072849_BRK ENSE00001072849 BRK 2 71762095 71762264 + 56 69 45 A,G; T,T NA NA NA GAGCCCCAGGGGCCTCCTTGGGTTTGCTGGGGGCAGGAGGCTCGGCATGGCAGGCAGTGTGATGTTCTGGTTCCACTGAGGGTTGGCCGTCTTCTCCAAGATCTTGCTGCACAGAAAGAAGACACAGGGAGGGGACAAGTTGATCAAGCTCCATGGGGACTCTGGGCTCC 71534964 71535134 NA NA NA NA NA NA GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTTTCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGCCGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC GGAGCCCAGAGTCCCCATGGAGCTTGATCAACTTGTCCCCTCCCTGTGTCTTCTAGCTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGGTGAGCCTCCTGCCCCCAGCAAACCCAAGGAGGCCCCTGGGGCTC control 26 42 0.7368644359551 0.85 0.79343221797755 NA NA NA NA NA 0.992058990037976 0.979041511439083 0.980637070675805 0.998813497017824 -0.255194554082876 -0.129041511439083 NA NA 0.985550250738529 0.989725283846815 -0.192118032760979 NA NA NA FALSE NA NA NA NA NA DYSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYSF NA NA NA ENSG00000135636 ENSE00001072849 NA NA NA NA NA NA NA 1.00255104624413e-15 FALSE NA ENSE00001074020_000 ENSE00001074020 000 1 116245500 116245669 - 42 75 53 NA NA NA NA NA TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT 115702878 115703048 NA NA NA NA NA NA TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT natural 15 16 0.998763294782285 0.99702680458148 0.997895049681883 1225 2064 0.885521200882765 0.998435978513662 0.941978589698214 0.998763294782285 0.99702680458148 0.885521200882765 0.998435978513662 0 0 0 0 0.997895049681883 0.941978589698214 0 0 0 FALSE FALSE NA NA NA NA NA VANGL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CASQ2 NA NA NA ENSG00000118729 ENSE00001074020 NA NA NA NA NA NA NA 1.06548301273598e-06 FALSE NA ENSE00001074020_020 ENSE00001074020 020 1 116245500 116245669 - 42 75 53 C T 116245599 3218 71 TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAAAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT 115702878 115703048 115702977 115702978 115702978 exon 18 0.24 TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAAAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT mutant NA NA NA NA NA 447 99 0.99990789810732 1 0.99995394905366 0.998763294782285 0.99702680458148 0.885521200882765 0.998435978513662 NA NA 0.114386697224554 0.00156402148633783 0.997895049681883 0.941978589698214 NA 0.0579753593554461 NA FALSE NA 1 1.121 . downstream_gene_variant MODIFIER VANGL1 HGNC 15512 ENST00000355485 COSM894355 1 NA TCT C,T 2.471e-05 1:115702978 CASQ2 HGNC Symbol protein_coding 68774 ENSG00000118729 ENSE00001074020 synonymous_variant 1.739932 0.9791 0.68416 0.497415 0.721772103687716 0 1.06548301273598e-06 FALSE 1.22767e-05 ENSE00001074020_023 ENSE00001074020 023 1 116245500 116245669 - 42 75 53 C T 116245613 3221 57 TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCATTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT 115702878 115703048 115702991 115702992 115702992 exon 4 0.0533333333333333 TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCATTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT mutant NA NA NA NA NA 99 16 1 0.961632660349978 0.980816330174989 0.998763294782285 0.99702680458148 0.885521200882765 0.998435978513662 NA NA 0.114478799117235 -0.0368033181636847 0.997895049681883 0.941978589698214 NA 0.038837740476775 NA FALSE NA 0.982 2.374 . downstream_gene_variant MODIFIER VANGL1 HGNC 15512 ENST00000355485 COSM423538 1 NA ACG C,T 4.942e-05 1:115702992 CASQ2 HGNC Symbol protein_coding 68774 ENSG00000118729 ENSE00001074020 missense_variant 1.746461 0.81713 0.4614 0.497415 0.919954085957323 0 1.06548301273598e-06 FALSE 3.70617e-05 ENSE00001074020_025 ENSE00001074020 025 1 116245500 116245669 - 42 75 53 G C 116245655 3223 15 TAACAGAGAATGCCGTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT 115702878 115703048 115703033 115703034 115703034 upstr_intron -39 -0.716981132075472 TAACAGAGAATGCCGTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT TAACAGAGAATGCCCTCTGCCTGCTGTCTAATCTTATTTTTTTGTTGCTGCAGCTCGTTGCCTACTGGGAGAAGACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGATGTGAGTATCCCCTGTGAAGGCTTGCTCAGGCACCCTTGGCCT mutant NA NA NA NA NA 243 36 0.99829402897267 1 0.999147014486335 0.998763294782285 0.99702680458148 0.885521200882765 0.998435978513662 NA NA 0.112772828089905 0.00156402148633783 0.997895049681883 0.941978589698214 NA 0.0571684247881212 NA FALSE NA 0.054 0.922 NA NA NA VANGL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:115703034 CASQ2 HGNC Symbol protein_coding 68774 ENSG00000118729 ENSE00001074020 intron_variant -0.171051 0.47509 0.39223 0.053691 0.582025939388433 0.198301 1.06548301273598e-06 FALSE 0.216712 ENSE00001075853_000 ENSE00001075853 000 1 205277246 205277415 - 47 66 57 NA NA NA NA NA CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 NA NA NA NA NA NA CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT natural 79 192 0.986811654410157 0.843733261663642 0.9152724580369 2833 3126 0.954344749259953 0.998483740791493 0.976414245025723 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 0 0 0 0 0.9152724580369 0.976414245025723 0 0 0 FALSE FALSE NA NA NA NA NA NUAK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUAK2 NA NA NA ENSG00000163545 ENSE00001075853 NA NA NA NA NA NA NA 3.1843015314192e-05 FALSE NA ENSE00001075853_003 ENSE00001075853 003 1 205277246 205277415 - 47 66 57 G A 205277284 4828 132 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCTACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308155 205308156 205308156 downstr_intron 9 1.19565217391304 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCTACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 159 169 0.996122158811203 1 0.998061079405602 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.04177740955125 0.0015162592085074 0.9152724580369 0.976414245025723 NA 0.0216468343798787 NA FALSE NA 0 0.038 . intron_variant MODIFIER NUAK2 HGNC 29558 ENST00000367157 4/6 1 NA TGG G 8.237e-06 1:205308156 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 intron_variant 1.912643 0.31803 0.12784 0.099367 0.82488732976844 0.267436 3.1843015314192e-05 FALSE 1.66496e-05 ENSE00001075853_005 ENSE00001075853 005 1 205277246 205277415 - 47 66 57 C T 205277290 4830 126 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTAAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308161 205308162 205308162 downstr_intron 3 1.06521739130435 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTAAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 59 246 1 0.956996929039722 0.978498464519861 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.0456552507400468 -0.041486811751771 0.9152724580369 0.976414245025723 NA 0.0020842194941379 NA FALSE NA 1 1.177 . splice_region_variant&intron_variant LOW NUAK2 HGNC 29558 ENST00000367157 4/6 1 NA TCA C 8.237e-06 1:205308162 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 splice_region_variant 2.334593 0.944 0.39123 0.099367 0.951127084596774 0.971385 3.1843015314192e-05 FALSE 8.28247e-06 ENSE00001075853_006 ENSE00001075853 006 1 205277246 205277415 - 47 66 57 T C 205277298 4831 118 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATGTCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308169 205308170 205308170 exon -6 0.924242424242424 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATGTCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 130 199 1 0.992175366099662 0.996087683049831 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.0456552507400468 -0.00630837469183032 0.9152724580369 0.976414245025723 NA 0.0196734380241083 NA FALSE NA 0.997 2.02 rs150528650 missense_variant MODERATE NUAK2 HGNC 29558 ENST00000367157 4/7 rs150528650 1 tolerated(0.31) benign(0.014) C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 ATA T 8.237e-06 1:205308170 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 missense_variant 1.633862 0.92848 0.85456 0.67177 0.974761327426354 0 3.1843015314192e-05 FALSE 1.24308e-05 ENSE00001075853_007 ENSE00001075853 007 1 205277246 205277415 - 47 66 57 A G 205277311 4832 105 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGACGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308182 205308183 205308183 exon -19 0.727272727272727 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGACGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 258 353 0.947946073329855 0.983322084305723 0.965634078817789 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA -0.00639867593009769 -0.0151616564857696 0.9152724580369 0.976414245025723 NA -0.0107801662079337 NA FALSE NA 1 2.658 . synonymous_variant LOW NUAK2 HGNC 29558 ENST00000367157 4/7 rs530000574 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAT A 2.471e-05 1:205308183 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 synonymous_variant 0.867231 0.92717 0.88437 0.67177 0.796106376691931 0 3.1843015314192e-05 FALSE 1.24765e-05 ENSE00001075853_010 ENSE00001075853 010 1 205277246 205277415 - 47 66 57 T C 205277325 4835 91 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGGACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308196 205308197 205308197 exon -33 0.515151515151515 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGGACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 28 415 0.998520894445658 1 0.999260447222829 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.044176145185705 0.0015162592085074 0.9152724580369 0.976414245025723 NA 0.0228462021971062 NA FALSE NA 1 8.042 . missense_variant MODERATE NUAK2 HGNC 29558 ENST00000367157 4/7 1 deleterious(0) probably_damaging(1) NA TTC T 8.236e-06 1:205308197 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 missense_variant 6.130809 0.97192 0.97608 0.67177 0.998163678014594 0 3.1843015314192e-05 FALSE 4.15517e-06 ENSE00001075853_011 ENSE00001075853 011 1 205277246 205277415 - 47 66 57 C T 205277326 4836 90 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAAAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308197 205308198 205308198 exon 33 0.5 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAAAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 77 11 1 1 1 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.0456552507400468 0.0015162592085074 0.9152724580369 0.976414245025723 NA 0.0235857549742771 NA FALSE NA 0.989 0.284 . synonymous_variant LOW NUAK2 HGNC 29558 ENST00000367157 4/7 COSM3376947&COSM3376946 1 NA TCT C 8.236e-06 1:205308198 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 synonymous_variant 2.054214 0.91501 0.78826 0.67177 0.821959690992154 0 3.1843015314192e-05 FALSE 8.30268e-06 ENSE00001075853_012 ENSE00001075853 012 1 205277246 205277415 - 47 66 57 C T 205277342 4837 74 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCAAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308213 205308214 205308214 exon 17 0.257575757575758 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCAAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 414 76 0.993237165472222 1 0.996618582736111 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.0388924162122691 0.0015162592085074 0.9152724580369 0.976414245025723 NA 0.0202043377103883 NA FALSE NA 1 7.82 rs140270571 missense_variant MODERATE NUAK2 HGNC 29558 ENST00000367157 4/7 rs140270571 1 deleterious(0) probably_damaging(0.997) NA T:0 T:0.0001 TCG C 1.647e-05 1:205308214 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 missense_variant 7.65604 0.9674 0.97263 0.67177 0.999470279688028 0 3.1843015314192e-05 FALSE 1.25043e-05 ENSE00001075853_014 ENSE00001075853 014 1 205277246 205277415 - 47 66 57 A G 205277351 4839 65 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGCTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308222 205308223 205308223 exon 8 0.121212121212121 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGCTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 513 1782 0.931373586696681 0.998379350011369 0.964876468354025 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA -0.0229711625632723 -0.000104390780123254 0.9152724580369 0.976414245025723 NA -0.0115377766716978 NA FALSE NA 0.991 9.343 . missense_variant MODERATE NUAK2 HGNC 29558 ENST00000367157 4/7 1 deleterious(0) possibly_damaging(0.454) NA AAC A 8.236e-06 1:205308223 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 missense_variant 4.886922 0.83139 0.97293 0.67177 0.994841547748605 0 3.1843015314192e-05 FALSE 4.22322e-06 ENSE00001075853_015 ENSE00001075853 015 1 205277246 205277415 - 47 66 57 G A 205277356 4840 60 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAATAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308227 205308228 205308228 exon 3 0.0454545454545455 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAATAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 13 57 0.95 1 0.975 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA -0.00434474925995321 0.0015162592085074 0.9152724580369 0.976414245025723 NA -0.0014142450257229 NA FALSE NA 0 -1.28 . splice_region_variant&synonymous_variant LOW NUAK2 HGNC 29558 ENST00000367157 4/7 1 NA TGT G 8.236e-06 1:205308228 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 splice_region_variant -0.237189 0.85316 0.10214 0.67177 0.634368516014147 0 3.1843015314192e-05 FALSE 4.25105e-06 ENSE00001075853_016 ENSE00001075853 016 1 205277246 205277415 - 47 66 57 T C 205277358 4841 58 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGGACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308229 205308230 205308230 exon 1 0.0151515151515152 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGGACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 100 423 1 0.99990998072879 0.999954990364395 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.0456552507400468 0.00142623993729774 0.9152724580369 0.976414245025723 NA 0.0235407453386723 NA FALSE NA 1 8.042 . missense_variant&splice_region_variant MODERATE NUAK2 HGNC 29558 ENST00000367157 4/7 1 deleterious(0) probably_damaging(0.999) NA TTC T 8.236e-06 1:205308230 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 missense_variant 4.772438 0.97244 0.9763 0.67177 0.996750859487454 0 3.1843015314192e-05 FALSE 4.27544e-06 ENSE00001075853_018 ENSE00001075853 018 1 205277246 205277415 - 47 66 57 G A 205277383 4843 33 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCTGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308254 205308255 205308255 upstr_intron -25 -0.421052631578947 CCTCATCATCTTCCCTTCCCTGGTGACCTTCCTGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 262 1353 0.999842820379558 0.999123245839687 0.999483033109622 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.0454980711196045 0.000639505048194544 0.9152724580369 0.976414245025723 NA 0.0230687880838995 NA FALSE NA 0.001 0.074 . intron_variant MODIFIER NUAK2 HGNC 29558 ENST00000367157 3/6 rs369961018 1 NA A:0.0002 A:0 CGG G 3.295e-05 1:205308255 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 intron_variant 0.429739 0.4361 0.15167 0.062308 0.730338075456293 0.0673465 3.1843015314192e-05 FALSE 2.30806e-05 ENSE00001075853_019 ENSE00001075853 019 1 205277246 205277415 - 47 66 57 A C 205277400 4844 16 CCTCATCATCTTCCCGTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308271 205308272 205308272 upstr_intron -42 -0.719298245614035 CCTCATCATCTTCCCGTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 300 15 1 1 1 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.0456552507400468 0.0015162592085074 0.9152724580369 0.976414245025723 NA 0.0235857549742771 NA FALSE NA 0.891 1.278 . intron_variant MODIFIER NUAK2 HGNC 29558 ENST00000367157 3/6 rs373812786 1 NA C:0.0002 C:0.0003 AAG A 9.89e-05 1:205308272 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 intron_variant 0.00418 0.25581 0.37534 0.062308 0.579705616908096 0.0700598 3.1843015314192e-05 FALSE 9.03542e-05 ENSE00001075853_021 ENSE00001075853 021 1 205277246 205277415 - 47 66 57 G C 205277402 4846 14 CCTCATCATCTTCGCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT 205308117 205308287 205308273 205308274 205308274 upstr_intron -44 -0.754385964912281 CCTCATCATCTTCGCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT CCTCATCATCTTCCCTTCCCTGGTGACCTTCCCGTGACTGCCCTCTCCTTCTTTCAGAACAGAGTTGTCCACCGAGATCTCAAGCTGGAGAACATCCTCTTGGATGCCAATGGGAATATCAAGGTGAGTCCCACTTCTTATTTCTAGAAGCCTCCTTGCCCACCCCAGCT mutant NA NA NA NA NA 178 330 0.990869595225954 1 0.995434797612977 0.986811654410157 0.843733261663642 0.954344749259953 0.998483740791493 NA NA 0.0365248459660008 0.0015162592085074 0.9152724580369 0.976414245025723 NA 0.0190205525872541 NA FALSE NA 1 1.441 . intron_variant MODIFIER NUAK2 HGNC 29558 ENST00000367157 3/6 1 NA GGG G 8.242e-06 1:205308274 NUAK2 HGNC Symbol protein_coding 19732 ENSG00000163545 ENSE00001075853 intron_variant 0.064528 0.4205 0.77793 0.062308 0.645534392117908 0.579424 3.1843015314192e-05 FALSE 5.06575e-06 ENSE00001075969_000 ENSE00001075969 000 1 158639458 158639627 - 41 78 51 NA NA NA NA NA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 NA NA NA NA NA NA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA natural 215 425 0.859596332709819 0.882986615046714 0.871291473878267 3143 8754 0.956856513474743 0.953355042011649 0.955105777743196 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 0 0 0 0 0.871291473878267 0.955105777743196 0 0 0 FALSE FALSE NA NA NA NA NA SPTA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTA1 NA NA NA ENSG00000163554 ENSE00001075969 NA NA NA NA NA NA NA 5.85298929647153e-05 FALSE NA ENSE00001075969_001 ENSE00001075969 001 1 158639458 158639627 - 41 78 51 G A 158639468 3842 160 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGTCTACACACTA 158669667 158669837 158669677 158669678 158669678 downstr_intron 31 1.775 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGTCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 18 34 0.85 0.85 0.85 NA NA NA NA NA 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.00959633270981941 -0.0329866150467141 NA NA 0.871291473878267 0.955105777743196 -0.0212914738782667 NA NA NA FALSE 0 -1.216 . intron_variant MODIFIER SPTA1 HGNC 11272 ENST00000368147 13/51 1 NA GGC G 8.272e-06 1:158669678 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 intron_variant 0.024507 0.12022 0.02263 0.061011 0.650170807965122 0.0443366 5.85298929647153e-05 FALSE 4.06246e-06 ENSE00001075969_002 ENSE00001075969 002 1 158639458 158639627 - 41 78 51 G C 158639475 3843 153 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTGTGTGTGCCTACACACTA 158669667 158669837 158669684 158669685 158669685 downstr_intron 24 1.6 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTGTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 224 260 0.772924324368049 0.85 0.811462162184025 335 196 0.970603630149556 0.943998764037306 0.957301197093431 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.08667200834177 -0.0329866150467141 0.0137471166748122 -0.0093562779743438 0.871291473878267 0.955105777743196 -0.059829311694242 0.00219541935023421 0.0620247310444763 FALSE FALSE 0.001 0.298 . intron_variant MODIFIER SPTA1 HGNC 11272 ENST00000368147 13/51 1 NA AGA G 8.272e-06 1:158669685 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 intron_variant 0.425674 0.24038 0.16208 0.061011 0.723741045578017 0.0832456 5.85298929647153e-05 FALSE 8.12486e-06 ENSE00001075969_003 ENSE00001075969 003 1 158639458 158639627 - 41 78 51 G C 158639478 3844 150 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGGTTCTGTGTGCCTACACACTA 158669667 158669837 158669687 158669688 158669688 downstr_intron 21 1.525 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGGTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 57 269 0.85 0.85 0.85 77 1298 0.950786745664705 0.957038739435266 0.953912742549986 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.00959633270981941 -0.0329866150467141 -0.00606976781003832 0.00368369742361663 0.871291473878267 0.955105777743196 -0.0212914738782667 -0.00119303519321085 0.0200984386850559 FALSE FALSE 0.002 0.421 . intron_variant MODIFIER SPTA1 HGNC 11272 ENST00000368147 13/51 1 NA AGC G 8.272e-06 1:158669688 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 intron_variant 0.691908 0.23243 0.16349 0.061011 0.739145873216211 0.130273 5.85298929647153e-05 FALSE 4.06233e-06 ENSE00001075969_004 ENSE00001075969 004 1 158639458 158639627 - 41 78 51 C T 158639486 3845 142 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGACCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669695 158669696 158669696 downstr_intron 13 1.325 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGACCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 33 96 0.963997454217985 0.998801785531118 0.981399619874551 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.00714094074324112 0.0454467435194691 0.871291473878267 0.955105777743196 NA 0.0262938421313551 NA FALSE NA 0 -1.049 . intron_variant MODIFIER SPTA1 HGNC 11272 ENST00000368147 13/51 1 NA GCC C 1.655e-05 1:158669696 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 intron_variant 0.872227 0.16048 0.0714 0.061011 0.754118591253401 0.111679 5.85298929647153e-05 FALSE 8.1246e-06 ENSE00001075969_005 ENSE00001075969 005 1 158639458 158639627 - 41 78 51 G A 158639491 3846 137 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCTAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669700 158669701 158669701 downstr_intron 8 1.2 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCTAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 51 1628 0.962522027389163 0.883698507685172 0.923110267537168 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.00566551391441994 -0.0696565343264769 0.871291473878267 0.955105777743196 NA -0.0319955102060285 NA FALSE NA 0 -0.442 . splice_region_variant&intron_variant LOW SPTA1 HGNC 11272 ENST00000368147 13/51 rs377161997 1 NA A:0.0003 A:0 TGG G 8.274e-06 1:158669701 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 splice_region_variant -0.451452 0.10941 0.01576 0.061011 0.639718655875954 0.111679 5.85298929647153e-05 FALSE 4.06279e-06 ENSE00001075969_006 ENSE00001075969 006 1 158639458 158639627 - 41 78 51 C A 158639499 3847 129 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGTGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669708 158669709 158669709 exon -1 1 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGTGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 98 42 0.0266016107984811 0.0155680459554637 0.0210848283769724 NA NA NA NA NA 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.832994721911338 -0.86741856909125 NA NA 0.871291473878267 0.955105777743196 -0.850206645501294 NA NA NA TRUE 0.145 0.207 . splice_region_variant&synonymous_variant LOW SPTA1 HGNC 11272 ENST00000368147 13/52 COSM3476246 1 NA CCC C 1.655e-05 1:158669709 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 splice_region_variant 1.147006 0.94065 0.05502 0.487112 0.562072554539555 0 5.85298929647153e-05 FALSE 1.21884e-05 ENSE00001075969_007 ENSE00001075969 007 1 158639458 158639627 - 41 78 51 C T 158639501 3848 127 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACAGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669710 158669711 158669711 exon -3 0.974358974358974 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACAGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 91 176 0.85 0.85 0.85 2522 537 0.802935049601479 0.802284850430678 0.802609950016079 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.00959633270981941 -0.0329866150467141 -0.153921463873264 -0.151070191580971 0.871291473878267 0.955105777743196 -0.0212914738782667 -0.152495827727118 0.131204353848851 FALSE FALSE 0.103 -0.183 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:158669711 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 1.372142 0.95784 0.1414 0.487112 0.65888299929848 0 5.85298929647153e-05 FALSE 5.68824e-05 ENSE00001075969_008 ENSE00001075969 008 1 158639458 158639627 - 41 78 51 C A 158639501 3849 127 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACTGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669710 158669711 158669711 exon -3 0.974358974358974 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACTGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 10 14 0.85 0.85 0.85 457 4229 0.974138614595206 0.952923181600375 0.96353089809779 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.00959633270981941 -0.0329866150467141 0.0172821011204621 -0.000431860411274299 0.871291473878267 0.955105777743196 -0.0212914738782667 0.00842512035459392 0.0297165942328607 FALSE FALSE 0.103 -0.183 NA NA NA SPTA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTA1 NA NA NA ENSG00000163554 ENSE00001075969 missense_variant 5.552056 0.96102 0.136 0.487112 0.990139753609525 0 5.85298929647153e-05 FALSE 4.06303e-06 ENSE00001075969_010 ENSE00001075969 010 1 158639458 158639627 - 41 78 51 C T 158639504 3851 124 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTAACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669713 158669714 158669714 exon -6 0.935897435897436 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTAACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 89 32 0.85 0.85 0.85 53 1274 0.8 0.803026334124988 0.801513167062494 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.00959633270981941 -0.0329866150467141 -0.156856513474743 -0.150328707886662 0.871291473878267 0.955105777743196 -0.0212914738782667 -0.153592610680702 0.132301136802436 FALSE FALSE 1 3.867 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 rs200529208 1 deleterious(0.05) probably_damaging(1) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0002 TCA C 2.482e-05 1:158669714 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 4.552143 0.99193 0.89944 0.487112 0.998625300993764 0 5.85298929647153e-05 FALSE 5.28202e-05 ENSE00001075969_011 ENSE00001075969 011 1 158639458 158639627 - 41 78 51 C T 158639506 3852 122 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCATGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669715 158669716 158669716 exon -8 0.91025641025641 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCATGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 385 450 0.95 0.952595085009665 0.951297542504832 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA -0.00685651347474348 -0.000759957001984501 0.871291473878267 0.955105777743196 NA -0.00380823523836399 NA FALSE NA 1 4.163 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 deleterious(0.04) probably_damaging(1) NA ACG C 2.482e-05 1:158669716 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 6.759625 0.99193 0.90856 0.487112 0.999306789509642 0 5.85298929647153e-05 FALSE 1.21885e-05 ENSE00001075969_012 ENSE00001075969 012 1 158639458 158639627 - 41 78 51 G A 158639507 3853 121 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCTGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669716 158669717 158669717 exon -9 0.897435897435897 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCTGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 1828 586 0.762732845268942 0.797701233424496 0.780217039346719 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA -0.194123668205802 -0.155653808587154 0.871291473878267 0.955105777743196 NA -0.174888738396478 NA FALSE NA 1 2.949 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:158669717 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 5.041026 0.97591 0.91612 0.487112 0.998675979853348 0 5.85298929647153e-05 FALSE 7.7205e-05 ENSE00001075969_013 ENSE00001075969 013 1 158639458 158639627 - 41 78 51 G C 158639507 3854 121 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCGGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669716 158669717 158669717 exon -9 0.897435897435897 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCGGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 42 59 0.85 0.85 0.85 NA NA NA NA NA 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.0095963327098193 -0.0329866150467141 NA NA 0.871291473878267 0.955105777743196 -0.0212914738782667 NA NA NA FALSE 1 2.949 NA NA NA SPTA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTA1 NA NA NA ENSG00000163554 ENSE00001075969 missense_variant 5.272206 0.97629 0.91846 0.487112 0.997901574243564 0 5.85298929647153e-05 FALSE 4.06342e-06 ENSE00001075969_014 ENSE00001075969 014 1 158639458 158639627 - 41 78 51 T C 158639510 3855 118 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTGTCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669719 158669720 158669720 exon -12 0.858974358974359 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTGTCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 13 34 0.660655268592805 0.85 0.755327634296402 397 373 0.97610978696553 0.97049463906429 0.97330221301491 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.198941064117015 -0.0329866150467141 0.019253273490787 0.0171395970526408 0.871291473878267 0.955105777743196 -0.115963839581864 0.0181964352717139 0.134160274853578 FALSE FALSE 1 2.772 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 tolerated(0.11) possibly_damaging(0.644) NA ATA T 8.274e-06 1:158669720 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 2.184221 0.97963 0.90991 0.487112 0.948620079287299 0 5.85298929647153e-05 FALSE 8.12592e-06 ENSE00001075969_015 ENSE00001075969 015 1 158639458 158639627 - 41 78 51 C T 158639513 3856 115 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGACTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669722 158669723 158669723 exon -15 0.82051282051282 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGACTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 515 661 0.966448394322991 0.988259019428278 0.977353706875635 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.00959188084824791 0.0349039774166285 0.871291473878267 0.955105777743196 NA 0.0222479291324382 NA FALSE NA 0.99 -0.027 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 tolerated(0.65) benign(0.034) NA GCC C 8.274e-06 1:158669723 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 0.486885 0.96348 0.42182 0.487112 0.100026448242846 0 5.85298929647153e-05 FALSE 4.06319e-06 ENSE00001075969_016 ENSE00001075969 016 1 158639458 158639627 - 41 78 51 T C 158639516 3857 112 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCGAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669725 158669726 158669726 exon -18 0.782051282051282 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCGAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 92 516 0.982415719947454 0.980830500843997 0.981623110395725 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.0255592064727106 0.0274754588323474 0.871291473878267 0.955105777743196 NA 0.026517332652529 NA FALSE NA 0.987 1.803 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 tolerated(0.11) benign(0.088) NA TTG T 8.274e-06 1:158669726 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 0.386626 0.94201 0.02756 0.487112 0.766122603429239 0 5.85298929647153e-05 FALSE 4.06359e-06 ENSE00001075969_017 ENSE00001075969 017 1 158639458 158639627 - 41 78 51 A T 158639518 3858 110 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACAACAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669727 158669728 158669728 exon -20 0.756410256410256 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACAACAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 90 186 0.837722544539796 0.85 0.843861272269898 347 10 0.95 0.95 0.95 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.0218737881700238 -0.0329866150467141 -0.00685651347474348 -0.00335504201164938 0.871291473878267 0.955105777743196 -0.027430201608369 -0.00510577774319643 0.0223244238651725 FALSE FALSE 1 5.023 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 deleterious(0) probably_damaging(1) NA GAT A 1.655e-05 1:158669728 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 5.008122 0.99008 0.96758 0.487112 0.985378754761511 0 5.85298929647153e-05 FALSE 1.62534e-05 ENSE00001075969_019 ENSE00001075969 019 1 158639458 158639627 - 41 78 51 T C 158639526 3860 102 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCGGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669735 158669736 158669736 exon -28 0.653846153846154 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCGGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 42 521 0.999016015445542 0.995144065860891 0.997080040653216 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.0421595019707981 0.041789023849242 0.871291473878267 0.955105777743196 NA 0.04197426291002 NA FALSE NA 0.103 -0.82 . synonymous_variant LOW SPTA1 HGNC 11272 ENST00000368147 13/52 1 NA CTG T 8.274e-06 1:158669736 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 synonymous_variant -0.261521 0.94934 0.06029 0.487112 0.388533091376002 0 5.85298929647153e-05 FALSE 8.12731e-06 ENSE00001075969_020 ENSE00001075969 020 1 158639458 158639627 - 41 78 51 A C 158639534 3861 94 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATGATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669743 158669744 158669744 exon -36 0.551282051282051 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATGATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 193 89 0.994544227050685 1 0.997272113525343 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.0376877135759419 0.0466449579883507 0.871291473878267 0.955105777743196 NA 0.0421663357821463 NA FALSE NA 1 5.138 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 deleterious(0.02) probably_damaging(1) NA TAA A 2.482e-05 1:158669744 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 4.891402 0.9903 0.97289 0.487112 0.992347547375151 0 5.85298929647153e-05 FALSE 4.47042e-05 ENSE00001075969_021 ENSE00001075969 021 1 158639458 158639627 - 41 78 51 A G 158639535 3862 93 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCACTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669744 158669745 158669745 exon -37 0.538461538461538 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCACTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 101 347 0.926973006353561 0.959661980618596 0.943317493486079 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA -0.0298835071211824 0.00630693860694675 0.871291473878267 0.955105777743196 NA -0.0117882842571178 NA FALSE NA 1 0.953 rs35932551 synonymous_variant LOW SPTA1 HGNC 11272 ENST00000368147 13/52 rs35932551 1 NA G:0 G:0.0001 AAT A 0.0001324 1:158669745 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 synonymous_variant -0.680287 0.96684 0.53111 0.487112 0.336219185884578 0 5.85298929647153e-05 FALSE 0.00018287 ENSE00001075969_022 ENSE00001075969 022 1 158639458 158639627 - 41 78 51 G A 158639538 3863 90 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGATCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669747 158669748 158669748 exon 39 0.5 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGATCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 85 111 0.85 0.85 0.85 NA NA NA NA NA 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 -0.00959633270981941 -0.0329866150467141 NA NA 0.871291473878267 0.955105777743196 -0.0212914738782667 NA NA NA FALSE 0.069 -0.876 . synonymous_variant LOW SPTA1 HGNC 11272 ENST00000368147 13/52 1 NA GGT G 8.275e-06 1:158669748 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 synonymous_variant -0.568207 0.1867 0.03187 0.487112 0.196387899043688 0 5.85298929647153e-05 FALSE 4.06435e-06 ENSE00001075969_024 ENSE00001075969 024 1 158639458 158639627 - 41 78 51 C T 158639545 3865 83 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGATGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669754 158669755 158669755 exon 32 0.41025641025641 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGATGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 92 24 0.831075106714536 0.952701817882185 0.891888462298361 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA -0.125781406760207 -0.000653224129464114 0.871291473878267 0.955105777743196 NA -0.0632173154448356 NA FALSE NA 1 2.559 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 tolerated(1) benign(0.001) NA ACC C 8.275e-06 1:158669755 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant -0.893443 0.93079 0.03031 0.487112 0.115192293668514 0 5.85298929647153e-05 FALSE 4.06507e-06 ENSE00001075969_025 ENSE00001075969 025 1 158639458 158639627 - 41 78 51 T G 158639554 3866 74 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCACATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669763 158669764 158669764 exon 23 0.294871794871795 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCACATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 131 51 0.95 0.980765134219242 0.965382567109621 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA -0.00685651347474348 0.0274100922075932 0.871291473878267 0.955105777743196 NA 0.0102767893664248 NA FALSE NA 1 4.407 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 deleterious(0) probably_damaging(0.952) NA TTT T 8.276e-06 1:158669764 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 4.465478 0.98425 0.95711 0.487112 0.997798456053065 0 5.85298929647153e-05 FALSE 4.06573e-06 ENSE00001075969_026 ENSE00001075969 026 1 158639458 158639627 - 41 78 51 T C 158639555 3867 73 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCGAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669764 158669765 158669765 exon 22 0.282051282051282 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCGAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 36 491 0.998851208014161 1 0.999425604007081 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.0419946945394178 0.0466449579883507 0.871291473878267 0.955105777743196 NA 0.0443198262638843 NA FALSE NA 1 6.029 . missense_variant MODERATE SPTA1 HGNC 11272 ENST00000368147 13/52 1 deleterious(0.03) possibly_damaging(0.816) NA TTG T 8.276e-06 1:158669765 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 missense_variant 4.696096 0.98961 0.97728 0.487112 0.998213813521321 0 5.85298929647153e-05 FALSE NA ENSE00001075969_027 ENSE00001075969 027 1 158639458 158639627 - 41 78 51 A G 158639580 3868 48 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTCCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669789 158669790 158669790 upstr_intron -4 -0.0588235294117647 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTCCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 1063 16 0.957238955110221 0.852562168013773 0.904900561561997 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.000382441635477959 -0.100792873997877 0.871291473878267 0.955105777743196 NA -0.0502052161811993 NA FALSE NA 0 -0.894 . splice_region_variant&intron_variant LOW SPTA1 HGNC 11272 ENST00000368147 12/51 1 NA GAA A 1.656e-05 1:158669790 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 splice_region_variant -0.321985 0.16046 0.01202 0.061011 0.550347359973254 0.188658 5.85298929647153e-05 FALSE 1.22171e-05 ENSE00001075969_028 ENSE00001075969 028 1 158639458 158639627 - 41 78 51 T C 158639586 3869 42 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTGTTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669795 158669796 158669796 upstr_intron -10 -0.176470588235294 ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTGTTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant NA NA NA NA NA 91 10 0.989606265508621 0.95 0.96980313275431 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA 0.0327497520338774 -0.00335504201164938 0.871291473878267 0.955105777743196 NA 0.014697355011114 NA FALSE NA 0.01 0.27 rs148156245 intron_variant MODIFIER SPTA1 HGNC 11272 ENST00000368147 12/51 rs148156245 1 C:0.0014 C:0 C:0.0043 NA C:0 C:0.004 C:0 C:0.0003 C:0.0038 ATA T 0.002831 1:158669796 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 intron_variant 0.181807 0.20093 0.14458 0.061011 0.670192055177642 0.0775407 5.85298929647153e-05 FALSE 0.0030589 ENSE00001075969_029 ENSE00001075969 029 1 158639458 158639627 - 41 78 51 A G 158639601 3870 27 ACTCAGTGGTCACTGAAGGAAAAGCACTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 158669810 158669811 158669811 upstr_intron -25 -0.470588235294118 ACTCAGTGGTCACTGAAGGAAAAGCACTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA mutant 52 50 0.889937807717456 0.906572304526056 0.898255056121756 NA NA NA NA NA 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 0.0303414750076371 0.0235856894793415 NA NA 0.871291473878267 0.955105777743196 0.0269635822434893 NA NA NA FALSE 0 -1.25 rs2298801 intron_variant MODIFIER SPTA1 HGNC 11272 ENST00000368147 12/51 rs2298801 1 G:0.3772 G:0.2791 G:0.5 NA G:0.3383 G:0.4612 G:0.3763 G:0.2908 G:0.5018 AAT A 0.44 1:158669811 SPTA1 HGNC Symbol protein_coding 76009 ENSG00000163554 ENSE00001075969 intron_variant 0.068359 0.16976 0.00469 0.061011 0.519322239384718 0.0443366 5.85298929647153e-05 FALSE 0.444809 ENSE00001075969_BRK ENSE00001075969 BRK 1 158639458 158639627 - 41 78 51 A,G; T,T NA NA NA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCTTACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGCCATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA 158669667 158669837 NA NA NA NA NA NA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCTTACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGCCATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA ACTCAGTGGTCACTGAAGGAAAAGCATTCATTTTTATTTTTATTTTTTCAGACTGTAGACAAGACTGCAACCAAATTGATTGGTGATGACCATTATGATTCAGAGAACATCAAGGCTATCCGTGACGGGGTATGTCCAAGGGCCTAGAGCTTCTGTGTGCCTACACACTA control NA NA NA NA NA 26 274 0 0 0 0.859596332709819 0.882986615046714 0.956856513474743 0.953355042011649 NA NA -0.956856513474743 -0.953355042011649 0.871291473878267 0.955105777743196 NA -0.955105777743196 NA TRUE NA NA NA NA NA NA SPTA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTA1 NA NA NA ENSG00000163554 ENSE00001075969 NA NA NA NA NA NA NA 5.85298929647153e-05 FALSE NA ENSE00001076964_000 ENSE00001076964 000 3 151100399 151100568 + 45 90 35 NA NA NA NA NA TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 NA NA NA NA NA NA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA natural NA NA NA NA NA 4853 4185 0.90349296396366 0.960051138319796 0.931772051141728 NA NA 0.90349296396366 0.960051138319796 NA NA 0 0 NA 0.931772051141728 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001076964 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001076964_002 ENSE00001076964 002 3 151100399 151100568 + 45 90 35 A T 151100410 3325 12 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTAAATTTTTCTCT 151382610 151382780 151382621 151382622 151382622 upstr_intron -34 -0.733333333333333 AGAGAAAAATTTAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 1716 546 0.988461866947531 0.997306592338709 0.99288422964312 NA NA 0.90349296396366 0.960051138319796 NA NA 0.0849689029838719 0.0372554540189132 NA 0.931772051141728 NA 0.0611121785013926 NA FALSE NA 0 -1.872 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001076964 intron_variant -0.113275 0.14005 0.00108 0.093295 0.504661377758912 0.0514581 0.454891016173085 FALSE 4.70659e-06 ENSE00001076964_011 ENSE00001076964 011 3 151100399 151100568 + 45 90 35 A C 151100475 3334 77 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTGGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382686 151382687 151382687 exon 32 0.355555555555556 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCCAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 305 272 1 0.994349833785734 0.997174916892867 NA NA 0.90349296396366 0.960051138319796 NA NA 0.0965070360363405 0.0342986954659379 NA 0.931772051141728 NA 0.0654028657511392 NA FALSE NA 1 9.05 NA NA NA MED12L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED12L NA NA NA ENSG00000144893 ENSE00001076964 missense_variant 2.533532 0.99446 0.99196 0.615465 0.991164063090696 0 0.99999927637145 TRUE 4.08965e-06 ENSE00001076964_BRK ENSE00001076964 BRK 3 151100399 151100568 + 45 90 35 A,G; T,T NA NA NA TTTAATGGAGGGAAAATACTAGAAATGTCACTTGGCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATAAAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 NA NA NA NA NA NA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTTTATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGCCAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA control 14 25 0 0 0 NA NA NA NA NA NA NA 0.90349296396366 0.960051138319796 NA NA NA NA NA 0.931772051141728 NA NA NA NA NA NA NA NA NA NA MED12L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED12L NA NA NA ENSG00000144893 ENSE00001076964 NA NA NA NA NA NA NA 0.99999927637145 TRUE NA ENSE00001078116_000 ENSE00001078116 000 3 132384783 132384952 + 45 90 35 NA NA NA NA NA TGATGAAGAGCTATTAACCAACATATACTATTTTATATTTCACAGAAAATCCGTACCTTTGCCGTAGCAATAGTAGGTGTTGGTGGAGTAGGTAGTGTGACTGCTGAAATGCTGACAAGATGTGGCATTGGTAAGGTAAAAACATTTCTCTTTGCCTGTCATATAGGGAA 132665938 132666108 NA NA NA NA NA NA TGATGAAGAGCTATTAACCAACATATACTATTTTATATTTCACAGAAAATCCGTACCTTTGCCGTAGCAATAGTAGGTGTTGGTGGAGTAGGTAGTGTGACTGCTGAAATGCTGACAAGATGTGGCATTGGTAAGGTAAAAACATTTCTCTTTGCCTGTCATATAGGGAA TGATGAAGAGCTATTAACCAACATATACTATTTTATATTTCACAGAAAATCCGTACCTTTGCCGTAGCAATAGTAGGTGTTGGTGGAGTAGGTAGTGTGACTGCTGAAATGCTGACAAGATGTGGCATTGGTAAGGTAAAAACATTTCTCTTTGCCTGTCATATAGGGAA natural 88 82 0.778301409588381 0.694383523295359 0.73634246644187 991 3287 0.498381943826517 0.67943065633344 0.588906300079979 0.778301409588381 0.694383523295359 0.498381943826517 0.67943065633344 0 0 0 0 0.73634246644187 0.588906300079979 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001078116 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00001078301_000 ENSE00001078301 000 2 27527785 27527954 + 42 96 32 NA NA NA NA NA GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCCACCAGCATCGCGATGCCATCGCTGAGCTCACTCTGATACACACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 NA NA NA NA NA NA GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC natural 80 61 0.992750340929958 0.989747515355312 0.991248928142635 2035 2219 0.824699760424447 0.990749728181356 0.907724744302902 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 0 0 0 0 0.991248928142635 0.907724744302902 0 0 0 FALSE FALSE NA NA NA NA NA MPV17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM54 NA NA NA ENSG00000138100 ENSE00001078301 NA NA NA NA NA NA NA 8.24707898322991e-07 FALSE NA ENSE00001078301_001 ENSE00001078301 001 2 27527785 27527954 + 42 96 32 C A 27527811 419 27 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCCACCAGCATCGCGATGCCATCGCTGAGCTCACTCTGATACACACACAGTTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27304942 27304943 27304943 upstr_intron -16 -0.357142857142857 GGCCAGGTCCCAGCTCTGAGTGCTGAACTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 36 181 1 1 1 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.175300239575553 0.00925027181864391 0.991248928142635 0.907724744302902 NA 0.0922752556970984 NA FALSE NA 0 0.963 . downstream_gene_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 1 NA ACC C,A 8.237e-06 2:27304943 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 non_coding_transcript_exon_variant 1.700148 0.97473 0.85972 0.120566 0.708253185072654 0.340292 8.24707898322991e-07 FALSE 1.64249e-05 ENSE00001078301_002 ENSE00001078301 002 2 27527785 27527954 + 42 96 32 T C 27527817 420 33 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCCACCAGCATCGCGATGCCATCGCTGAGCTCACTCTGATACACGCACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27304948 27304949 27304949 upstr_intron -10 -0.214285714285714 GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGCGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 64 26 1 1 1 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.175300239575553 0.00925027181864391 0.991248928142635 0.907724744302902 NA 0.0922752556970984 NA FALSE NA 0 1.616 . downstream_gene_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 1 NA GTG T,C 8.237e-06 2:27304949 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 non_coding_transcript_exon_variant 1.535204 0.9742 0.78157 0.126639 0.665561989800308 0.383427 8.24707898322991e-07 FALSE 4.09279e-06 ENSE00001078301_003 ENSE00001078301 003 2 27527785 27527954 + 42 96 32 G A 27527818 421 34 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCCACCAGCATCGCGATGCCATCGCTGAGCTCACTCTGATACATACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27304949 27304950 27304950 upstr_intron -9 -0.19047619047619 GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTATGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 695 97 0.997848603360548 0.989101456234799 0.993475029797674 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.173148842936101 -0.00164827194655681 0.991248928142635 0.907724744302902 NA 0.0857502854947719 NA FALSE NA 0.003 0.477 NA NA NA MPV17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:27304950 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 non_coding_transcript_exon_variant 1.523506 0.97595 0.77846 0.126639 0.70783243680622 0.381749 8.24707898322991e-07 FALSE 4.09286e-06 ENSE00001078301_010 ENSE00001078301 010 2 27527785 27527954 + 42 96 32 G A 27527848 428 64 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCCACCAGCATCGTGATGCCATCGCTGAGCTCACTCTGATACACACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27304979 27304980 27304980 exon 22 0.229166666666667 GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCACGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 26 538 0.924399610564334 0.999289472664819 0.961844541614576 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.0996998501398867 0.00853974448346295 0.991248928142635 0.907724744302902 NA 0.0541197973116748 NA FALSE NA 0.996 2.188 . downstream_gene_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 1 NA CGC G,A 1.647e-05 2:27304980 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 missense_variant 4.867582 0.98333 0.97453 0.675385 0.999255216529078 0 8.24707898322991e-07 FALSE 2.84877e-05 ENSE00001078301_012 ENSE00001078301 012 2 27527785 27527954 + 42 96 32 G A 27527850 430 66 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCCACCAGCATTGCGATGCCATCGCTGAGCTCACTCTGATACACACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27304981 27304982 27304982 exon 24 0.25 GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCAATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 397 24 0.989570227838632 0.810423489972415 0.899996858905524 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.164870467414185 -0.180326238208941 0.991248928142635 0.907724744302902 NA -0.00772788539737806 NA FALSE NA 0 -1.319 rs35361421 downstream_gene_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 rs35361421 1 A:0.0114 A:0.0408 A:0.0043 NA A:0 A:0 A:0 A:0.0438 A:0.0002 CGA G,A 0.003871 2:27304982 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 synonymous_variant 1.910416 0.89987 0.20387 0.675385 0.829144363262958 0 8.24707898322991e-07 FALSE 0.00300295 ENSE00001078301_013 ENSE00001078301 013 2 27527785 27527954 + 42 96 32 G A 27527859 431 75 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCTACCAGCATCGCGATGCCATCGCTGAGCTCACTCTGATACACACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27304990 27304991 27304991 exon 33 0.34375 GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTAGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 42 67 0.984311006404311 1 0.992155503202155 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.159611245979864 0.00925027181864391 0.991248928142635 0.907724744302902 NA 0.0844307588992538 NA FALSE NA 1 0.922 . downstream_gene_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 1 NA TGG G,A 1.647e-05 2:27304991 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 synonymous_variant 1.234273 0.98057 0.933 0.675385 0.771320181404877 0 8.24707898322991e-07 FALSE 3.25423e-05 ENSE00001078301_015 ENSE00001078301 015 2 27527785 27527954 + 42 96 32 G A 27527873 433 89 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGTGGTCATTGCCTGCCACCAGCATCGCGATGCCATCGCTGAGCTCACTCTGATACACACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27305004 27305005 27305005 exon 47 0.489583333333333 GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCACGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 28 110 1 1 1 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.175300239575553 0.00925027181864391 0.991248928142635 0.907724744302902 NA 0.0922752556970984 NA FALSE NA 1 4.307 NA NA NA MPV17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:27305005 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 missense_variant 4.056256 0.98572 0.96068 0.713056 0.999086833636792 0 8.24707898322991e-07 FALSE 3.6611e-05 ENSE00001078301_021 ENSE00001078301 021 2 27527785 27527954 + 42 96 32 A C 27527883 439 99 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACGGCTTGCACGCGGTCATTGCCTGCCACCAGCATCGCGATGCCATCGCTGAGCTCACTCTGATACACACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27305014 27305015 27305015 exon -40 0.59375 GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCCGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 272 156 1 0.936239822041323 0.968119911020661 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.175300239575553 -0.0545099061400333 0.991248928142635 0.907724744302902 NA 0.0603951667177598 NA FALSE NA 0.019 -0.753 . downstream_gene_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 COSM3839272&COSM3839271 1 NA CAG A,C 8.236e-06 2:27305015 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 synonymous_variant 0.264462 0.96901 0.14859 0.675385 0.703105458019833 0 8.24707898322991e-07 FALSE 4.06825e-06 ENSE00001078301_024 ENSE00001078301 024 2 27527785 27527954 + 42 96 32 G C 27527907 442 123 GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCACCTCGATAGTCTGGCAGACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCCACCAGCATCGCGATGCCATCGCTGAGCTCACTCTGATACACACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 27305038 27305039 27305039 exon -16 0.84375 GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTCTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC mutant NA NA NA NA NA 68 49 1 1 1 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 NA NA 0.175300239575553 0.00925027181864391 0.991248928142635 0.907724744302902 NA 0.0922752556970984 NA FALSE NA 1 1.984 . downstream_gene_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 1 NA TGT G,C 6.589e-05 2:27305039 TRIM54 HGNC Symbol protein_coding 25047 ENSG00000138100 ENSE00001078301 synonymous_variant 1.014984 0.97879 0.78705 0.675385 0.764685201530775 0 8.24707898322991e-07 FALSE 4.07541e-05 ENSE00001078301_BRK ENSE00001078301 BRK 2 27527785 27527954 + 42 96 32 A,G; T,T NA NA NA GCTGTTCCTCCCTCCCTCCAGCCCAGGCTCGGCTCGATAGTCTGGCACACCTCCTCCATCTGTGTGATCACTGCTTGCACGCGGTCATTGCCTGCCACCAGCATCGCGATGCCATCGCTGAGCTCACTAAGATACACACACAGGTCAGCACTCAGAGCTGGGACCTGGCC 27304916 27305086 NA NA NA NA NA NA GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCTTAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGCCGAGCCTGGGCTGGAGGGAGGGAGGAACAGC GGCCAGGTCCCAGCTCTGAGTGCTGACCTGTGTGTGTATCAGAGTGAGCTCAGCGATGGCATCGCGATGCTGGTGGCAGGCAATGACCGCGTGCAAGCAGTGATCACACAGATGGAGGAGGTGTGCCAGACTATCGAGGTGAGCCTGGGCTGGAGGGAGGGAGGAACAGC control 198 277 0 0.0759839363050179 0.037991968152509 601 256 0.0603419091822911 0 0.0301709545911455 0.992750340929958 0.989747515355312 0.824699760424447 0.990749728181356 -0.992750340929958 -0.913763579050294 -0.764357851242156 -0.990749728181356 0.991248928142635 0.907724744302902 -0.953256959990126 -0.877553789711756 0.0757031702783697 TRUE TRUE NA NA NA NA NA MPV17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM54 NA NA NA ENSG00000138100 ENSE00001078301 NA NA NA NA NA NA NA 8.24707898322991e-07 FALSE NA ENSE00001078386_000 ENSE00001078386 000 2 28802444 28802613 + 50 81 39 NA NA NA NA NA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 NA NA NA NA NA NA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA natural 39 29 0.99824765483409 0.994120051576443 0.996183853205266 660 1124 0.986106934102253 0.986588639231231 0.986347786666742 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 0 0 0 0 0.996183853205266 0.986347786666742 0 0 0 FALSE FALSE NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001078386 NA NA NA NA NA NA NA 1.9931529274349e-56 FALSE NA ENSE00001078386_001 ENSE00001078386 001 2 28802444 28802613 + 50 81 39 G A 28802463 702 20 GACTTGACTCTGGGACAAGATGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579595 28579596 28579596 upstr_intron -31 -0.6 GACTTGACTCTGGGACAAGATGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 290 1024 0.984895379044404 1 0.992447689522202 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA -0.0012115550578492 0.0134113607687691 0.996183853205266 0.986347786666742 NA 0.00609990285545997 NA FALSE NA 0 -0.199 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 rs368720014 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0009 A:0 GGT G,A 0.0001235 2:28579596 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 intron_variant 0.196027 0.18299 0.01541 0.080785 0.60410194671281 0.152352 1.9931529274349e-56 FALSE 0.000101559 ENSE00001078386_002 ENSE00001078386 002 2 28802444 28802613 + 50 81 39 A G 28802469 703 26 GACTTGACTCTGGGACAAGGTGCTTGCTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579601 28579602 28579602 upstr_intron -25 -0.48 GACTTGACTCTGGGACAAGGTGCTTGCTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 41 82 0.986175855489624 0.972587887237646 0.979381871363635 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 6.89213873711347e-05 -0.0140007519935846 0.996183853205266 0.986347786666742 NA -0.00696591530310675 NA FALSE NA 0.02 0.843 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA TAC A,G 5.765e-05 2:28579602 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 intron_variant -0.118508 0.20128 0.04652 0.080785 0.553295305196785 0.152352 1.9931529274349e-56 FALSE 3.6564e-05 ENSE00001078386_003 ENSE00001078386 003 2 28802444 28802613 + 50 81 39 C G 28802473 704 30 GACTTGACTCTGGGACAAGGTGCTTACTTGTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579605 28579606 28579606 upstr_intron -21 -0.4 GACTTGACTCTGGGACAAGGTGCTTACTTGTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 371 99 1 1 1 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.013893065897747 0.0134113607687691 0.996183853205266 0.986347786666742 NA 0.0136522133332581 NA FALSE NA 0.004 -0.56 rs72863332 downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 rs72863332 1 G:0.0683 G:0.0893 G:0.0692 NA G:0.0109 G:0.0934 G:0.0726 G:0.0908 G:0.0878 TCT G,G 0.08 2:28579606 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 intron_variant 0.117564 0.10039 0.00136 0.080785 0.523404609374624 0.152421 1.9931529274349e-56 FALSE 0.0814097 ENSE00001078386_004 ENSE00001078386 004 2 28802444 28802613 + 50 81 39 A G 28802483 705 40 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTGTTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579615 28579616 28579616 upstr_intron -11 -0.2 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTGTTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 109 152 1 0.999749233230281 0.99987461661514 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.013893065897747 0.0131605939990498 0.996183853205266 0.986347786666742 NA 0.0135268299483984 NA FALSE NA 0.001 -0.888 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA TAT A,G 5.765e-05 2:28579616 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 intron_variant 0.528692 0.12103 0.01888 0.080785 0.531270239690904 0.166817 1.9931529274349e-56 FALSE 4.87353e-05 ENSE00001078386_005 ENSE00001078386 005 2 28802444 28802613 + 50 81 39 A G 28802487 706 44 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCGTTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579619 28579620 28579620 upstr_intron -7 -0.12 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCGTTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 30 271 1 1 1 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.013893065897747 0.0134113607687691 0.996183853205266 0.986347786666742 NA 0.0136522133332581 NA FALSE NA 0 -0.164 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 rs372986127 1 NA G:0.0002 G:0 CAT A,G 8.236e-06 2:28579620 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 splice_region_variant 0.45109 0.24925 0.06675 0.080785 0.66067087835966 0.227888 1.9931529274349e-56 FALSE 8.12275e-06 ENSE00001078386_006 ENSE00001078386 006 2 28802444 28802613 + 50 81 39 A G 28802497 707 54 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGGTACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579629 28579630 28579630 exon 4 0.0493827160493827 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGGTACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 27 73 1 1 1 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.013893065897747 0.0134113607687691 0.996183853205266 0.986347786666742 NA 0.0136522133332581 NA FALSE NA 0.958 2.868 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA GAT A,G 8.236e-06 2:28579630 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 missense_variant 3.535093 0.97108 0.91862 0.516011 0.996128715362511 0 1.9931529274349e-56 FALSE 4.06098e-06 ENSE00001078386_009 ENSE00001078386 009 2 28802444 28802613 + 50 81 39 A G 28802501 710 58 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACGCTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579633 28579634 28579634 exon 8 0.0987654320987654 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACGCTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 1117 213 0.83312434863941 0.983430918709263 0.908277633674337 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA -0.152982585462843 -0.00315772052196783 0.996183853205266 0.986347786666742 NA -0.0780701529924054 NA FALSE NA 1 5.634 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA CAC A,G 8.236e-06 2:28579634 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 missense_variant 2.559653 0.97199 0.94664 0.554377 0.970450337824378 0 1.9931529274349e-56 FALSE 2.84266e-05 ENSE00001078386_010 ENSE00001078386 010 2 28802444 28802613 + 50 81 39 C A 28802506 711 63 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTAAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579638 28579639 28579639 exon 13 0.160493827160494 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTAAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 343 49 0.993685143184615 0.95 0.971842571592307 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.00757820908236184 -0.0365886392312309 0.996183853205266 0.986347786666742 NA -0.0145052150744345 NA FALSE NA 0.003 -0.285 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA TCA C,A 8.236e-06 2:28579639 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 missense_variant 1.535151 0.61462 0.07215 0.516011 0.897433838678175 0 1.9931529274349e-56 FALSE 2.03054e-05 ENSE00001078386_013 ENSE00001078386 013 2 28802444 28802613 + 50 81 39 C T 28802514 714 71 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGATTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579646 28579647 28579647 exon 21 0.259259259259259 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGATTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 28 93 1 1 1 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.013893065897747 0.0134113607687691 0.996183853205266 0.986347786666742 NA 0.0136522133332581 NA FALSE NA 0.773 -0.63 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 rs201565484 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACT C,T 8.236e-06 2:28579647 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 synonymous_variant 1.661106 0.93156 0.07325 0.516011 0.478893757466523 0 1.9931529274349e-56 FALSE NA ENSE00001078386_018 ENSE00001078386 018 2 28802444 28802613 + 50 81 39 C T 28802530 719 87 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCTTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579662 28579663 28579663 exon 37 0.45679012345679 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCTTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 599 1348 0.999793707427265 0.998862661072847 0.999328184250056 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.0136867733250117 0.0122740218416157 0.996183853205266 0.986347786666742 NA 0.0129803975833137 NA FALSE NA 0 -2.41 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA CCT C,T 8.236e-06 2:28579663 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 synonymous_variant 1.640494 0.18402 0.02404 0.516011 0.665736290195269 0 1.9931529274349e-56 FALSE 4.06091e-06 ENSE00001078386_020 ENSE00001078386 020 2 28802444 28802613 + 50 81 39 G C 28802532 721 89 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTCTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579664 28579665 28579665 exon 39 0.481481481481481 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTCTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 555 42 0.998957245954341 0.981829906352286 0.990393576153314 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.0128503118520878 -0.00475873287894446 0.996183853205266 0.986347786666742 NA 0.00404578948657169 NA FALSE NA 0.628 -0.288 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28579665 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 synonymous_variant 1.246997 0.95161 0.5404 0.516011 0.818690427979266 0 1.9931529274349e-56 FALSE 1.62437e-05 ENSE00001078386_021 ENSE00001078386 021 2 28802444 28802613 + 50 81 39 G A 28802532 722 89 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTATTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579664 28579665 28579665 exon 39 0.481481481481481 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTATTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 240 37 0.988821599833228 0.998964758537075 0.993893179185151 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.00271466573097467 0.0123761193058443 0.996183853205266 0.986347786666742 NA 0.00754539251840947 NA FALSE NA 0.628 -0.288 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001078386 synonymous_variant 1.246881 0.95158 0.56734 0.516011 0.798854099431469 0 1.9931529274349e-56 FALSE NA ENSE00001078386_022 ENSE00001078386 022 2 28802444 28802613 + 50 81 39 C T 28802541 723 98 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGTGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579673 28579674 28579674 exon -34 0.592592592592593 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGTGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 635 616 1 1 1 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.013893065897747 0.0134113607687691 0.996183853205266 0.986347786666742 NA 0.0136522133332581 NA FALSE NA 0.816 0.033 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28579674 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 synonymous_variant 2.020291 0.93257 0.34825 0.516011 0.631177368703726 0 1.9931529274349e-56 FALSE 0.000613487 ENSE00001078386_024 ENSE00001078386 024 2 28802444 28802613 + 50 81 39 G A 28802542 725 99 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCAGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579674 28579675 28579675 exon -33 0.604938271604938 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCAGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 602 529 0.998144216882818 1 0.999072108441409 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.0120372827805649 0.0134113607687691 0.996183853205266 0.986347786666742 NA 0.012724321774667 NA FALSE NA 1 3.256 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA CGG G,A 8.236e-06 2:28579675 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 missense_variant 4.547596 0.96953 0.88812 0.516011 0.989528330359112 0 1.9931529274349e-56 FALSE 2.0314e-05 ENSE00001078386_025 ENSE00001078386 025 2 28802444 28802613 + 50 81 39 C T 28802544 726 101 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGTAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579676 28579677 28579677 exon -31 0.62962962962963 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGTAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 468 82 1 1 1 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.013893065897747 0.0134113607687691 0.996183853205266 0.986347786666742 NA 0.0136522133332581 NA FALSE NA 1 0.601 rs114238908 downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 rs114238908 1 T:0.0026 T:0 T:0.0086 NA T:0 T:0.005 T:0.002 T:0.0016 T:0.0048 GCA C,T 0.003632 2:28579677 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 synonymous_variant 1.640559 0.96667 0.71476 0.516011 0.669300556906506 0 1.9931529274349e-56 FALSE 0.00340758 ENSE00001078386_026 ENSE00001078386 026 2 28802444 28802613 + 50 81 39 A G 28802546 727 103 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAGTGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579678 28579679 28579679 exon -29 0.654320987654321 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAGTGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 891 423 0.947713082201236 0.999251497888621 0.973482290044928 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA -0.0383938519010172 0.0126628586573897 0.996183853205266 0.986347786666742 NA -0.0128654966218137 NA FALSE NA 1 3.587 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 rs200695930 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAT A,G 1.647e-05 2:28579679 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 missense_variant 5.487682 0.98857 0.92601 0.516011 0.998979036358831 0 1.9931529274349e-56 FALSE 3.65494e-05 ENSE00001078386_032 ENSE00001078386 032 2 28802444 28802613 + 50 81 39 C A 28802588 733 145 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGAACTTTACTCAAGACTCACCCCCAGA 28579576 28579746 28579720 28579721 28579721 downstr_intron 14 1.36842105263158 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGAACTTTACTCAAGACTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 12 655 1 0.998711423134027 0.999355711567013 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA 0.013893065897747 0.0121227839027959 0.996183853205266 0.986347786666742 NA 0.0130079249002714 NA FALSE NA 0 -0.362 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA GCA C,A 8.236e-06 2:28579721 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 intron_variant 0.366212 0.30593 0.04489 0.053691 0.545525108887798 0.117477 1.9931529274349e-56 FALSE 4.06134e-06 ENSE00001078386_034 ENSE00001078386 034 2 28802444 28802613 + 50 81 39 C T 28802602 735 159 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGATTCACCCCCAGA 28579576 28579746 28579734 28579735 28579735 downstr_intron 28 1.73684210526316 GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGATTCACCCCCAGA GACTTGACTCTGGGACAAGGTGCTTACTTCTGTGTTTCTATTCATTTCAGAGGATACACTTTCAGGAAGACTGGAAGATAATAACCCTGTTTATAGGCGGCAATGACCTCTGTGATTTCTGCAATGATCTGGTAGGTCTCCAGGCACTTTACTCAAGACTCACCCCCAGA mutant NA NA NA NA NA 1009 687 0.852644924995797 1 0.926322462497899 0.99824765483409 0.994120051576443 0.986106934102253 0.986588639231231 NA NA -0.133462009106456 0.0134113607687691 0.996183853205266 0.986347786666742 NA -0.0600253241688432 NA FALSE NA 0 -1.5 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000485642 1 NA ACT C,T 8.236e-06 2:28579735 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001078386 intron_variant 0.312418 0.14731 0.01265 0.053691 0.681707259711268 0.117477 1.9931529274349e-56 FALSE 4.06177e-06 ENSE00001078391_000 ENSE00001078391 000 2 28812500 28812669 + 42 96 32 NA NA NA NA NA AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 NA NA NA NA NA NA AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC natural 23 64 0.998793963827523 0.964778627244895 0.981786295536209 1124 3960 0.99195808305891 0.999429575582864 0.995693829320887 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 0 0 0 0 0.981786295536209 0.995693829320887 0 0 0 FALSE FALSE NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003509530 NA NA NA NA NA NA NA 1.9931529274349e-56 FALSE NA ENSE00001078391_001 ENSE00001078391 001 2 28812500 28812669 + 42 96 32 T G 28812522 736 23 AGTGTGTCTATAACTGCCTCTCGTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589654 28589655 28589655 upstr_intron -20 -0.452380952380952 AGTGTGTCTATAACTGCCTCTCGTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 552 296 0.998876302407235 1 0.999438151203618 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00691821934832582 0.000570424417136284 0.981786295536209 0.995693829320887 NA 0.00374432188273105 NA FALSE NA 0 0.019 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 27/57 rs374369538 1 NA CTT T,G 2.471e-05 2:28589655 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 intron_variant -0.006917 0.23748 0.143 0.053691 0.605379793589919 0.0813483 1.9931529274349e-56 FALSE 1.21847e-05 ENSE00001078391_002 ENSE00001078391 002 2 28812500 28812669 + 42 96 32 C G 28812531 737 32 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCGCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589663 28589664 28589664 upstr_intron -11 -0.238095238095238 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCGCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 627 680 0.987392934614615 0.992796955935892 0.990094945275253 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA -0.00456514844429468 -0.00663261964697193 0.981786295536209 0.995693829320887 NA -0.0055988840456333 NA FALSE NA 0 0.132 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 27/57 1 NA CCC C,G 8.236e-06 2:28589664 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 intron_variant 0.038715 0.33166 0.29111 0.053691 0.469859978252569 0.10707 1.9931529274349e-56 FALSE 4.0622e-06 ENSE00001078391_003 ENSE00001078391 003 2 28812500 28812669 + 42 96 32 G C 28812533 738 34 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCCGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589665 28589666 28589666 upstr_intron -9 -0.19047619047619 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCCGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 58 254 1 0.835408464075624 0.917704232037812 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 -0.16402111150724 0.981786295536209 0.995693829320887 NA -0.0779895972830748 NA FALSE NA 0.001 0.482 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28589666 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 intron_variant -0.245908 0.33041 0.09862 0.053691 0.512959505685357 0.193581 1.9931529274349e-56 FALSE 2.03141e-05 ENSE00001078391_006 ENSE00001078391 006 2 28812500 28812669 + 42 96 32 G C 28812545 741 46 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAACGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589677 28589678 28589678 exon 4 0.0416666666666667 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAACGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 936 353 1 0.997369865048364 0.998684932524182 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 -0.00205971053449994 0.981786295536209 0.995693829320887 NA 0.00299110320329526 NA FALSE NA 1 6.464 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 rs201142749 1 deleterious(0) probably_damaging(1) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AGG G,C 8.236e-06 2:28589678 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 5.536956 0.99427 0.98104 0.554377 0.999220105631228 0 1.9931529274349e-56 FALSE NA ENSE00001078391_007 ENSE00001078391 007 2 28812500 28812669 + 42 96 32 G A 28812546 742 47 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGAATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589678 28589679 28589679 exon 5 0.0520833333333333 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGAATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 201 48 1 1 1 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 0.000570424417136284 0.981786295536209 0.995693829320887 NA 0.00430617067911337 NA FALSE NA 1 6.464 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 1 deleterious(0) probably_damaging(1) NA GGA G,A 2.471e-05 2:28589679 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 4.4718 0.99393 0.97256 0.554377 0.996791439827564 0 1.9931529274349e-56 FALSE 2.03133e-05 ENSE00001078391_008 ENSE00001078391 008 2 28812500 28812669 + 42 96 32 A G 28812547 743 48 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGGTTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589679 28589680 28589680 exon 6 0.0625 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGGTTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 149 308 0.0858453207812729 0.00164344255596799 0.0437443816686205 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA -0.906112762277637 -0.997786133026896 0.981786295536209 0.995693829320887 NA -0.951949447652266 NA TRUE NA 0 0.018 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 28/58 1 NA GAT A,G 1.647e-05 2:28589680 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 synonymous_variant -0.222154 0.23483 0.02443 0.554377 0.522803736226355 0 1.9931529274349e-56 FALSE 8.12493e-06 ENSE00001078391_010 ENSE00001078391 010 2 28812500 28812669 + 42 96 32 A G 28812558 745 59 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAGCTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589690 28589691 28589691 exon 17 0.177083333333333 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAGCTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 126 56 0.983906587511695 1 0.991953293755848 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA -0.00805149554721452 0.000570424417136284 0.981786295536209 0.995693829320887 NA -0.00374053556503912 NA FALSE NA 0 -0.715 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 1 tolerated(1) benign(0.006) NA AAC A,G 8.236e-06 2:28589691 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant -1.862804 0.45719 0.0143 0.554377 0.191893629795153 0 1.9931529274349e-56 FALSE NA ENSE00001078391_011 ENSE00001078391 011 2 28812500 28812669 + 42 96 32 C T 28812568 746 69 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTTGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589700 28589701 28589701 exon 27 0.28125 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTTGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 57 871 0.845842531856567 0.971518282980244 0.908680407418405 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA -0.146115551202343 -0.0279112926026196 0.981786295536209 0.995693829320887 NA -0.0870134219024812 NA FALSE NA 0.001 -1.878 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 28/58 rs373733745 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TCG C,T 4.942e-05 2:28589701 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 synonymous_variant 1.459671 0.20426 0.00665 0.428477 0.489074154131738 0 1.9931529274349e-56 FALSE 5.28296e-05 ENSE00001078391_013 ENSE00001078391 013 2 28812500 28812669 + 42 96 32 T A 28812582 748 83 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTACCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589714 28589715 28589715 exon 41 0.427083333333333 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTACCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 3221 43 0.998502513960979 0.996304071575541 0.99740329276826 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00654443090206935 -0.00312550400732292 0.981786295536209 0.995693829320887 NA 0.00170946344737322 NA FALSE NA 1 6.755 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 rs565199399 1 deleterious(0) probably_damaging(1) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TTC T,A 1.647e-05 2:28589715 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 6.286059 0.99213 0.97748 0.428477 0.996760420735944 0 1.9931529274349e-56 FALSE 8.12651e-06 ENSE00001078391_015 ENSE00001078391 015 2 28812500 28812669 + 42 96 32 C T 28812586 750 87 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCATTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589718 28589719 28589719 exon 45 0.46875 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCATTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 1108 236 0.98489006357749 0.982523632826551 0.98370684820202 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA -0.00706801948142 -0.0169059427563123 0.981786295536209 0.995693829320887 NA -0.0119869811188661 NA FALSE NA 0.795 0.251 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 28/58 rs371747091 1 NA T:0.0005 T:0 ACT C,T 8.236e-06 2:28589719 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 synonymous_variant 0.928659 0.96914 0.62796 0.428477 0.388057188964313 0 1.9931529274349e-56 FALSE 1.62541e-05 ENSE00001078391_016 ENSE00001078391 016 2 28812500 28812669 + 42 96 32 C G 28812589 751 90 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTGAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589721 28589722 28589722 exon 48 0.5 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTGAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 572 210 1 1 1 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 0.000570424417136284 0.981786295536209 0.995693829320887 NA 0.00430617067911337 NA FALSE NA 0.909 0.205 rs145129518 missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 rs145129518 1 tolerated(0.07) possibly_damaging(0.651) NA G:0 G:0.0002 TCA C,G 0.0001071 2:28589722 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 5.341979 0.9687 0.61752 0.428477 0.991789670312917 0 1.9931529274349e-56 FALSE 5.68874e-05 ENSE00001078391_017 ENSE00001078391 017 2 28812500 28812669 + 42 96 32 A C 28812597 752 98 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCACGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589729 28589730 28589730 exon -41 0.583333333333333 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCACGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 36 201 1 1 1 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 0.000570424417136284 0.981786295536209 0.995693829320887 NA 0.00430617067911337 NA FALSE NA 1 2.656 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 1 deleterious(0) probably_damaging(0.998) NA AAG A,C 3.295e-05 2:28589730 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 4.416463 0.98707 0.91128 0.428477 0.997291672640263 0 1.9931529274349e-56 FALSE 2.43787e-05 ENSE00001078391_018 ENSE00001078391 018 2 28812500 28812669 + 42 96 32 T C 28812601 753 102 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCCCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589733 28589734 28589734 exon -37 0.625 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCCCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 576 13 1 1 1 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 0.000570424417136284 0.981786295536209 0.995693829320887 NA 0.00430617067911337 NA FALSE NA 0.003 -0.35 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 28/58 1 NA CTC T,C 8.236e-06 2:28589734 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 synonymous_variant -0.841006 0.16537 0.10236 0.428477 0.413590769688247 0 1.9931529274349e-56 FALSE 1.62538e-05 ENSE00001078391_019 ENSE00001078391 019 2 28812500 28812669 + 42 96 32 G A 28812609 754 110 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCAAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589741 28589742 28589742 exon -29 0.708333333333333 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCAAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 842 418 0.998722253528078 0.999360128101304 0.999041190814691 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00676417046916866 -6.94474815600143e-05 0.981786295536209 0.995693829320887 NA 0.00334736149380432 NA FALSE NA 0 -0.045 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 COSM314217 1 tolerated(0.88) benign(0.008) NA CGA G,A 2.471e-05 2:28589742 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant -0.274508 0.22243 0.02512 0.428477 0.751788676509791 0 1.9931529274349e-56 FALSE 2.03257e-05 ENSE00001078391_021 ENSE00001078391 021 2 28812500 28812669 + 42 96 32 C T 28812621 756 122 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGTTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589753 28589754 28589754 exon -17 0.833333333333333 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGTTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 2973 880 0.996740633633303 0.987618070051368 0.992179351842336 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.0047825505743937 -0.0118115055314952 0.981786295536209 0.995693829320887 NA -0.00351447747855077 NA FALSE NA 0.011 0.216 rs146694508 missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 rs146694508 1 deleterious(0.05) probably_damaging(0.925) NA T:0.0002 T:0 GCT C,T 2.471e-05 2:28589754 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 3.541879 0.98017 0.4002 0.428477 0.994893525281334 0 1.9931529274349e-56 FALSE 2.03264e-05 ENSE00001078391_022 ENSE00001078391 022 2 28812500 28812669 + 42 96 32 C T 28812623 757 124 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTTTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589755 28589756 28589756 exon -15 0.854166666666667 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTTTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 114 392 1 0.999902857517291 0.999951428758646 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 0.000473281934427194 0.981786295536209 0.995693829320887 NA 0.00425759943775883 NA FALSE NA 0.958 3.809 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 1 deleterious(0) probably_damaging(0.999) NA TCT C,T 1.647e-05 2:28589756 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 5.785389 0.99508 0.96721 0.428477 0.998818717750331 0 1.9931529274349e-56 FALSE 8.13081e-06 ENSE00001078391_023 ENSE00001078391 023 2 28812500 28812669 + 42 96 32 T C 28812626 758 127 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCCGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589758 28589759 28589759 exon -12 0.885416666666667 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCCGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 77 237 0.995644266843901 1 0.997822133421951 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00368618378499164 0.000570424417136284 0.981786295536209 0.995693829320887 NA 0.00212830410106396 NA FALSE NA 1 6.755 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 rs376120544 1 deleterious(0) probably_damaging(1) NA C:0 C:0.0001 CTG T,C 0.0003542 2:28589759 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 5.072219 0.99373 0.98165 0.428477 0.991549475020222 0 1.9931529274349e-56 FALSE 0.000207346 ENSE00001078391_024 ENSE00001078391 024 2 28812500 28812669 + 42 96 32 A G 28812632 759 133 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACGATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589764 28589765 28589765 exon -6 0.947916666666667 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACGATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 341 70 1 0.993197447809404 0.996598723904702 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 -0.00623212777345927 0.981786295536209 0.995693829320887 NA 0.000904894583815596 NA FALSE NA 1 7.864 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 rs369680734 1 deleterious(0.01) possibly_damaging(0.611) NA G:0 G:0.0001 CAA A,G 8.236e-06 2:28589765 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 4.658187 0.99414 0.98837 0.428477 0.995312538994551 0 1.9931529274349e-56 FALSE 4.06696e-06 ENSE00001078391_025 ENSE00001078391 025 2 28812500 28812669 + 42 96 32 T C 28812636 760 137 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATACGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589768 28589769 28589769 exon -2 0.989583333333333 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATACGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 144 11 1 0.99646350907926 0.99823175453963 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 -0.00296606650360398 0.981786295536209 0.995693829320887 NA 0.00253792521874324 NA FALSE NA 1 6.755 . missense_variant&splice_region_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 1 deleterious(0) possibly_damaging(0.781) NA ATG T,C 8.236e-06 2:28589769 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 4.333671 0.99373 0.98165 0.428477 0.985332313062836 0 1.9931529274349e-56 FALSE 4.06676e-06 ENSE00001078391_026 ENSE00001078391 026 2 28812500 28812669 + 42 96 32 G A 28812637 761 138 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATAGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 28589769 28589770 28589770 exon -1 1 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATAGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 74 866 0.0176632514378229 0.000583898640050344 0.00912357503893663 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA -0.974294831621087 -0.998845676942813 0.981786295536209 0.995693829320887 NA -0.98657025428195 NA TRUE NA 1 6.544 . missense_variant&splice_region_variant MODERATE PLB1 HGNC 30041 ENST00000327757 28/58 rs372392583 1 deleterious(0.01) benign(0.285) NA A:0 A:0.0001 TGG G,A 4.942e-05 2:28589770 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 missense_variant 2.660782 0.99542 0.97076 0.428477 0.990524143997261 0 1.9931529274349e-56 FALSE 4.47424e-05 ENSE00001078391_027 ENSE00001078391 027 2 28812500 28812669 + 42 96 32 C T 28812649 762 150 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGTGGTAGGAAAATGCATCCTCC 28589632 28589802 28589781 28589782 28589782 downstr_intron 12 1.38709677419355 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGTGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 262 374 1 0.999898179222695 0.999949089611347 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 0.000468603639830811 0.981786295536209 0.995693829320887 NA 0.00425526029046064 NA FALSE NA 0 -1.973 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 28/57 1 NA GCG C,T 4.942e-05 2:28589782 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 intron_variant 0.048555 0.14264 0.01473 0.053691 0.394381743375282 0.0786337 1.9931529274349e-56 FALSE 6.92521e-05 ENSE00001078391_028 ENSE00001078391 028 2 28812500 28812669 + 42 96 32 G A 28812650 763 151 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCAGTAGGAAAATGCATCCTCC 28589632 28589802 28589782 28589783 28589783 downstr_intron 13 1.41935483870968 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCAGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 119 279 1 1 1 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA 0.00804191694109047 0.000570424417136284 0.981786295536209 0.995693829320887 NA 0.00430617067911337 NA FALSE NA 0 -0.171 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 28/57 1 NA CGG G,A 4.942e-05 2:28589783 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 intron_variant -0.271026 0.17479 0.05999 0.053691 0.488501742720664 0.0824766 1.9931529274349e-56 FALSE 6.92419e-05 ENSE00001078391_030 ENSE00001078391 030 2 28812500 28812669 + 42 96 32 A G 28812659 765 160 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAGTGCATCCTCC 28589632 28589802 28589791 28589792 28589792 downstr_intron 22 1.70967741935484 AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAGTGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC mutant NA NA NA NA NA 211 12 0.917473306232875 1 0.958736653116437 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 NA NA -0.0744847768260348 0.000570424417136284 0.981786295536209 0.995693829320887 NA -0.0369571762044493 NA FALSE NA 0 -1.106 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 28/57 rs547426128 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAT A,G 6.589e-05 2:28589792 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003509530 intron_variant 0.031417 0.19394 0.01825 0.053691 0.394689706394619 0.0443698 1.9931529274349e-56 FALSE 2.85246e-05 ENSE00001078391_BRK ENSE00001078391 BRK 2 28812500 28812669 + 42 96 32 A,G; T,T NA NA NA AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCTTGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGCCAAGTGGCTGCGGTAGGAAAATGCATCCTCC 28589632 28589802 NA NA NA NA NA NA AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCTTGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGCCAAGTGGCTGCGGTAGGAAAATGCATCCTCC AGTGTGTCTATAACTGCCTCTCTTTTTCTGCCCGGTGACCAGGAAGGATTGCCTGACAACTCTTTCTTCGCTCCTGACTGTTTCCACTTCAGCAGCAAGTCTCACTCCCGAGCAGCCAGTGCTCTCTGGAACAATATGGTAAGTGGCTGCGGTAGGAAAATGCATCCTCC control 187 67 0 0 0 NA NA NA NA NA 0.998793963827523 0.964778627244895 0.99195808305891 0.999429575582864 -0.998793963827523 -0.964778627244895 NA NA 0.981786295536209 0.995693829320887 -0.981786295536209 NA NA NA TRUE NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003509530 NA NA NA NA NA NA NA 1.9931529274349e-56 FALSE NA ENSE00001078555_000 ENSE00001078555 000 3 45488338 45488507 + 45 90 35 NA NA NA NA NA GATGTTTATAATGGCCTGTACATTATTTTTCTTCTTTGTTGGCAGGAAATAACTACGTGTTTGCCAGATTACTACAAGTGGACTCAGTATCTCTTTATTAAACTGTATGAGGCTGGGCTGGCCTATCAAAAGGAGGTAAGTTAAAATTAGCTGGACTTTTAAAATTCAGT 45446845 45447015 NA NA NA NA NA NA GATGTTTATAATGGCCTGTACATTATTTTTCTTCTTTGTTGGCAGGAAATAACTACGTGTTTGCCAGATTACTACAAGTGGACTCAGTATCTCTTTATTAAACTGTATGAGGCTGGGCTGGCCTATCAAAAGGAGGTAAGTTAAAATTAGCTGGACTTTTAAAATTCAGT GATGTTTATAATGGCCTGTACATTATTTTTCTTCTTTGTTGGCAGGAAATAACTACGTGTTTGCCAGATTACTACAAGTGGACTCAGTATCTCTTTATTAAACTGTATGAGGCTGGGCTGGCCTATCAAAAGGAGGTAAGTTAAAATTAGCTGGACTTTTAAAATTCAGT natural NA NA NA NA NA 620 1009 0.98070548308929 0.995567176676082 0.988136329882686 NA NA 0.98070548308929 0.995567176676082 NA NA 0 0 NA 0.988136329882686 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001078555 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001078562_000 ENSE00001078562 000 3 45561660 45561829 + 51 78 41 NA NA NA NA NA CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 NA NA NA NA NA NA AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG natural 42 69 0.988957748904698 0.986628987153813 0.987793368029255 5191 5251 0.941292998813161 0.781785627026917 0.861539312920039 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 0 0 0 0 0.987793368029255 0.861539312920039 0 0 0 FALSE FALSE NA NA NA NA NA LARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LARS2 NA NA NA ENSG00000011376 ENSE00003632619 NA NA NA NA NA NA NA 2.60643828587561e-07 FALSE NA ENSE00001078562_001 ENSE00001078562 001 3 45561660 45561829 + 51 78 41 A G 45561681 744 22 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTACTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520188 45520189 45520189 upstr_intron -30 -0.568627450980392 AAAGCTTAAAAGAATTTTGAAGTAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 333 153 0.924760732329214 0.948460545706117 0.936610639017666 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA -0.0165322664839466 0.1666749186792 0.987793368029255 0.861539312920039 NA 0.0750713260976267 NA FALSE NA 0 0.009 . intron_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 2/5 rs531349531 1 NA AAT A,G 5.765e-05 3:45520189 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 intron_variant 0.00152 0.14469 0.00307 0.156188 0.661825454014778 0.0786957 2.60643828587561e-07 FALSE 4.58524e-05 ENSE00001078562_002 ENSE00001078562 002 3 45561660 45561829 + 51 78 41 C G 45561699 745 40 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAACGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520206 45520207 45520207 upstr_intron -12 -0.215686274509804 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACGTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 748 2419 0.994653164750958 0.990688051981389 0.992670608366173 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0533601659377968 0.208902424954472 0.987793368029255 0.861539312920039 NA 0.131131295446134 NA FALSE NA 0.007 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:45520207 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 intron_variant -0.199601 0.32687 0.0812 0.295142 0.466076902217736 0.06134 2.60643828587561e-07 FALSE 0.000162799 ENSE00001078562_003 ENSE00001078562 003 3 45561660 45561829 + 51 78 41 C A 45561699 746 40 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAATGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520206 45520207 45520207 upstr_intron -12 -0.215686274509804 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACATTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 391 810 0.973372760288224 0.956701232395044 0.965036996341634 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0320797614750633 0.174915605368127 0.987793368029255 0.861539312920039 NA 0.103497683421595 NA FALSE NA 0.007 0.493 NA NA NA LARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LARS2 NA NA NA ENSG00000011376 ENSE00003632619 intron_variant 0.028529 0.32163 0.02863 0.295142 0.327724751308518 0.06134 2.60643828587561e-07 FALSE 1.62799e-05 ENSE00001078562_004 ENSE00001078562 004 3 45561660 45561829 + 51 78 41 G A 45561731 747 72 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCTTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520238 45520239 45520239 exon 21 0.269230769230769 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAAGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 1155 479 1 0.997489779144342 0.998744889572171 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.058707001186839 0.215704152117425 0.987793368029255 0.861539312920039 NA 0.137205576652132 NA FALSE NA 1 2.03 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/6 rs368651897 1 NA A:0 A:0.0001 AGG G,A 8.236e-06 3:45520239 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 synonymous_variant 1.333358 0.97983 0.90573 0.706548 0.580479795281063 0 2.60643828587561e-07 FALSE 4.06167e-06 ENSE00001078562_005 ENSE00001078562 005 3 45561660 45561829 + 51 78 41 C T 45561734 748 75 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAATCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520241 45520242 45520242 exon 24 0.307692307692308 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGATTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 1161 128 0.959751892649425 0.955315371137205 0.957533631893315 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0184588938362636 0.173529744110288 0.987793368029255 0.861539312920039 NA 0.0959943189732759 NA FALSE NA 1 2.233 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/6 1 NA ACT C,T 1.647e-05 3:45520242 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 synonymous_variant 1.856641 0.98052 0.81666 0.706548 0.577333365473272 0 2.60643828587561e-07 FALSE 1.62451e-05 ENSE00001078562_006 ENSE00001078562 006 3 45561660 45561829 + 51 78 41 C G 45561741 749 82 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCACTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520248 45520249 45520249 exon 31 0.397435897435897 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCAGTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 535 807 0.995497345473111 1 0.997748672736555 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0542043466599497 0.218214372973083 0.987793368029255 0.861539312920039 NA 0.136209359816516 NA FALSE NA 0.988 2.29 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/6 1 NA ACT C,G 3.295e-05 3:45520249 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 missense_variant 6.207174 0.98748 0.93498 0.706548 0.998649807298834 0 2.60643828587561e-07 FALSE 2.03056e-05 ENSE00001078562_007 ENSE00001078562 007 3 45561660 45561829 + 51 78 41 A G 45561753 750 94 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAACTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520260 45520261 45520261 exon -36 0.551282051282051 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAGTTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 50 340 1 1 1 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.058707001186839 0.218214372973083 0.987793368029255 0.861539312920039 NA 0.138460687079961 NA FALSE NA 0.979 2.596 rs138699045 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/6 rs138699045 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 AAT A,G 3.295e-05 3:45520261 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 missense_variant -0.167602 0.92093 0.87695 0.706548 0.655743538620581 0 2.60643828587561e-07 FALSE 5.27966e-05 ENSE00001078562_008 ENSE00001078562 008 3 45561660 45561829 + 51 78 41 T C 45561755 751 96 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAGATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520262 45520263 45520263 exon -34 0.576923076923077 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATCTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 1193 1309 0.972523467793473 0.998975901808336 0.985749684800904 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.031230468980312 0.217190274781419 0.987793368029255 0.861539312920039 NA 0.124210371880865 NA FALSE NA 0.998 0.437 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/6 rs372377962 1 NA C:0 C:0.0001 TTT T,C 1.647e-05 3:45520263 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 synonymous_variant 0.167988 0.9765 0.74112 0.706548 0.688487779134279 0 2.60643828587561e-07 FALSE 1.21832e-05 ENSE00001078562_009 ENSE00001078562 009 3 45561660 45561829 + 51 78 41 A G 45561774 752 115 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCCGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520281 45520282 45520282 exon -15 0.82051282051282 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCGGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 507 634 0.994601482476943 0.985195814879114 0.989898648678029 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0533084836637825 0.203410187852197 0.987793368029255 0.861539312920039 NA 0.12835933575799 NA FALSE NA 1 5.466 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/6 1 NA CAG A,G 3.295e-05 3:45520282 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 missense_variant 3.359807 0.98519 0.96971 0.706548 0.962923282418718 0 2.60643828587561e-07 FALSE 7.31131e-05 ENSE00001078562_010 ENSE00001078562 010 3 45561660 45561829 + 51 78 41 A G 45561778 753 119 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCACTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520285 45520286 45520286 exon -11 0.871794871794872 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAGTGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 14 84 1 0.993394242207664 0.996697121103832 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.058707001186839 0.211608615180747 0.987793368029255 0.861539312920039 NA 0.135157808183793 NA FALSE NA 0.012 1.795 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/6 rs369702791 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 AAT A,G 5.765e-05 3:45520286 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 missense_variant 0.098297 0.60741 0.05585 0.706548 0.824439709415814 0 2.60643828587561e-07 FALSE 2.84366e-05 ENSE00001078562_011 ENSE00001078562 011 3 45561660 45561829 + 51 78 41 C G 45561787 754 128 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACCCAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520294 45520295 45520295 exon -2 0.987179487179487 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTGGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 2025 1233 0.949575079258477 0.944700297968221 0.947137688613349 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.00828208044531553 0.162914670941304 0.987793368029255 0.861539312920039 NA 0.08559837569331 NA FALSE NA 0 -1.747 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW LARS2 HGNC 17095 ENST00000485461 3/6 1 NA TCG C,G 2.471e-05 3:45520295 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 missense_variant 0.134982 0.21315 0.07551 0.706548 0.93016013917208 0 2.60643828587561e-07 FALSE 2.8453e-05 ENSE00001078562_012 ENSE00001078562 012 3 45561660 45561829 + 51 78 41 G A 45561788 755 129 CTCCCTCCTCTGCTACCAGCAAATGAGGACAGGCCACTTACTGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520295 45520296 45520296 exon -1 1 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCAGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 341 168 0.00713796069422317 0.00301702216954833 0.00507749143188575 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA -0.934155038118938 -0.778768604857369 0.987793368029255 0.861539312920039 NA -0.856461821488153 NA TRUE NA 0.005 -0.007 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW LARS2 HGNC 17095 ENST00000485461 3/6 COSM4117811 1 NA CGG G,A 1.647e-05 3:45520296 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 splice_region_variant 0.508213 0.3673 0.16603 0.706548 0.554325563704647 0 2.60643828587561e-07 FALSE 1.21941e-05 ENSE00001078562_014 ENSE00001078562 014 3 45561660 45561829 + 51 78 41 G A 45561800 757 141 CTCCCTCCTCTGCTACCAGCAAATGAGGATAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520307 45520308 45520308 downstr_intron 12 1.3 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTATCCTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 1257 352 0.997811638994361 0.998581989358558 0.99819681417646 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0565186401812001 0.216796362331641 0.987793368029255 0.861539312920039 NA 0.136657501256421 NA FALSE NA 0 0.454 . intron_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/5 rs565202750 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGT G,A 8.236e-06 3:45520308 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 intron_variant -0.007709 0.20957 0.10911 0.062308 0.27274186702949 0.0588481 2.60643828587561e-07 FALSE NA ENSE00001078562_015 ENSE00001078562 015 3 45561660 45561829 + 51 78 41 C A 45561802 758 143 CTCCCTCCTCTGCTACCAGCAAATGAGTACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520309 45520310 45520310 downstr_intron 14 1.35 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTACTCATTTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 116 506 1 1 1 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.058707001186839 0.218214372973083 0.987793368029255 0.861539312920039 NA 0.138460687079961 NA FALSE NA 0 -0.126 . intron_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/5 1 NA TCC C,A 8.236e-06 3:45520310 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 intron_variant 0.233796 0.19961 0.05812 0.062308 0.36558146910887 0.0588481 2.60643828587561e-07 FALSE 1.62729e-05 ENSE00001078562_016 ENSE00001078562 016 3 45561660 45561829 + 51 78 41 T C 45561808 759 149 CTCCCTCCTCTGCTACCAGCAGATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520315 45520316 45520316 downstr_intron 20 1.5 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATCTGCTGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 100 1255 0.976431898549944 0.93123035944899 0.953831128999467 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0351388997367827 0.149444732422073 0.987793368029255 0.861539312920039 NA 0.0922918160794279 NA FALSE NA 0 -1.012 . intron_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/5 rs372371039 1 NA C:0.0005 C:0 TTT T,C 4.942e-05 3:45520316 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 intron_variant 0.015846 0.21428 0.046 0.062308 0.423760423411756 0.0588481 2.60643828587561e-07 FALSE 2.03606e-05 ENSE00001078562_017 ENSE00001078562 017 3 45561660 45561829 + 51 78 41 T C 45561812 760 153 CTCCCTCCTCTGCTACCGGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520319 45520320 45520320 downstr_intron 24 1.6 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCCGGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 567 353 0.995631709272519 0.998586042036478 0.997108875654498 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0543387104593578 0.216800415009561 0.987793368029255 0.861539312920039 NA 0.135569562734459 NA FALSE NA 0 -0.206 . intron_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/5 1 NA CTG T,C 8.236e-06 3:45520320 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 intron_variant 0.131963 0.22672 0.03628 0.062308 0.735128462008725 0.0588481 2.60643828587561e-07 FALSE 4.07362e-06 ENSE00001078562_018 ENSE00001078562 018 3 45561660 45561829 + 51 78 41 G T 45561813 761 154 CTCCCTCCTCTGCTACAAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520320 45520321 45520321 downstr_intron 25 1.625 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTTGTAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 1752 1278 0.994343716384993 0.996432826731158 0.995388271558076 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0530507175718321 0.214647199704241 0.987793368029255 0.861539312920039 NA 0.133848958638037 NA FALSE NA 0 -1.142 . intron_variant&non_coding_transcript_variant MODIFIER LARS2 HGNC 17095 ENST00000485461 3/5 rs369439319 1 NA T:0.0002 T:0 TGG G,T 1.647e-05 3:45520321 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 intron_variant 0.21833 0.25548 0.05748 0.062308 0.614619991627959 0.0588481 2.60643828587561e-07 FALSE NA ENSE00001078562_019 ENSE00001078562 019 3 45561660 45561829 + 51 78 41 G A 45561814 762 155 CTCCCTCCTCTGCTATCAGCAAATGAGGACAGGCCACTTACCGAGAGGGCATTGCTGAGTCCCATCAGCTGAGAAATTGCAGAATTCAGTGAGAAGTCCTCTGTGAAATGGGTGGTCACCTATTAGTAAAGGTTCAATTATTTACTTATTTCAAAATTCTTTTAAGCTTT 45520167 45520337 45520321 45520322 45520322 downstr_intron 26 1.65 AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGATAGCAGAGGAGGGAG AAAGCTTAAAAGAATTTTGAAATAAGTAAATAATTGAACCTTTACTAATAGGTGACCACCCATTTCACAGAGGACTTCTCACTGAATTCTGCAATTTCTCAGCTGATGGGACTCAGCAATGCCCTCTCGGTAAGTGGCCTGTCCTCATTTGCTGGTAGCAGAGGAGGGAG mutant NA NA NA NA NA 208 250 0.995974470476188 0.958272051493669 0.977123260984929 0.988957748904698 0.986628987153813 0.941292998813161 0.781785627026917 NA NA 0.0546814716630275 0.176486424466752 0.987793368029255 0.861539312920039 NA 0.11558394806489 NA FALSE NA 0 -0.642 NA NA NA LARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:45520322 LARS2 HGNC Symbol protein_coding 160915 ENSG00000011376 ENSE00003632619 intron_variant 0.191461 0.17043 0.06115 0.062308 0.5979331925956 0.0588481 2.60643828587561e-07 FALSE 4.07571e-06 ENSE00001078892_000 ENSE00001078892 000 3 124380647 124380816 + 51 78 41 NA NA NA NA NA CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA 124661799 124661969 NA NA NA NA NA NA CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA natural NA NA NA NA NA 175 184 0.991124995050346 0.994434580711196 0.992779787880771 NA NA 0.991124995050346 0.994434580711196 NA NA 0 0 NA 0.992779787880771 NA 0 NA FALSE NA NA NA NA NA NA KALRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KALRN NA NA NA ENSG00000160145 ENSE00001078892 NA NA NA NA NA NA NA 0.999996915329978 TRUE NA ENSE00001078892_004 ENSE00001078892 004 3 124380647 124380816 + 51 78 41 A G 124380674 2507 28 CCTGCCTGAGTGCTGTTCCCCCTCCTGGGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA 124661799 124661969 124661826 124661827 124661827 upstr_intron -24 -0.450980392156863 CCTGCCTGAGTGCTGTTCCCCCTCCTGGGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA mutant NA NA NA NA NA 54 278 0.761651392609195 0.8 0.780825696304597 NA NA 0.991124995050346 0.994434580711196 NA NA -0.229473602441151 -0.194434580711196 NA 0.992779787880771 NA -0.211954091576173 NA FALSE NA 0.39 0.44 . intron_variant MODIFIER KALRN HGNC 4814 ENST00000459915 8/12 rs377640803 1 NA G:0.0002 G:0 GAG A,G 8.236e-06 3:124661827 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078892 intron_variant 1.090078 0.48268 0.17259 0.080754 0.761271061429508 0.071941 0.999996915329978 TRUE 8.12196e-06 ENSE00001078892_006 ENSE00001078892 006 3 124380647 124380816 + 51 78 41 C T 124380687 2509 41 CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTTTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA 124661799 124661969 124661839 124661840 124661840 upstr_intron -11 -0.196078431372549 CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTTTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA mutant NA NA NA NA NA 253 65 1 1 1 NA NA 0.991124995050346 0.994434580711196 NA NA 0.00887500494965421 0.00556541928880439 NA 0.992779787880771 NA 0.0072202121192293 NA FALSE NA 0.996 1.083 . intron_variant MODIFIER KALRN HGNC 4814 ENST00000459915 8/12 rs375465959 1 NA T:0.0002 T:0 TCT C,T 8.236e-06 3:124661840 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078892 intron_variant 1.002761 0.97036 0.7332 0.080754 0.663483932052192 0.332301 0.999996915329978 TRUE NA ENSE00001078892_013 ENSE00001078892 013 3 124380647 124380816 + 51 78 41 T A 124380747 2516 101 CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGAAGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA 124661799 124661969 124661899 124661900 124661900 exon -29 0.641025641025641 CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGAAGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA CCTGCCTGAGTGCTGTTCCCCCTCCTGAGTAACAGTTGTTCTTTCCCACAGAAAGCAGTGGAGTTAATGTGCCTTGTTCCCAAACGCTGCAATGACATGATGAATCTAGGACGTCTGCAGGGCTTTGAGGTGAGTCTTTAAGAATGCGTCTAAGCCCACTCTCTCCAGGA mutant NA NA NA NA NA 44 68 1 1 1 NA NA 0.991124995050346 0.994434580711196 NA NA 0.00887500494965421 0.00556541928880439 NA 0.992779787880771 NA 0.0072202121192293 NA FALSE NA 1 7.871 . missense_variant MODERATE KALRN HGNC 4814 ENST00000459915 9/13 1 deleterious(0) possibly_damaging(0.854) NA ATG T,A 8.236e-06 3:124661900 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078892 missense_variant 6.674022 0.99333 0.98616 0.638212 0.987377023211749 0 0.999996915329978 TRUE 4.06058e-06 ENSE00001078912_000 ENSE00001078912 000 3 124377231 124377400 + 47 87 36 NA NA NA NA NA AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 NA NA NA NA NA NA AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG natural 89 89 0.985537155404046 0.994351153902992 0.989944154653519 2447 2278 0.840581393488091 0.994012868963894 0.917297131225992 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 0 0 0 0 0.989944154653519 0.917297131225992 0 0 0 FALSE FALSE NA NA NA NA NA KALRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KALRN NA NA NA ENSG00000160145 ENSE00001078912 NA NA NA NA NA NA NA 0.999996915329978 TRUE NA ENSE00001078912_001 ENSE00001078912 001 3 124377231 124377400 + 47 87 36 G A 124377242 2468 12 AGACACAAGATACCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658394 124658395 124658395 upstr_intron -36 -0.74468085106383 AGACACAAGATACCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 199 68 0.914869188120586 1 0.957434594060293 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.0742877946324951 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0401374628343005 NA FALSE NA 0 0.106 . intron_variant MODIFIER KALRN HGNC 4814 ENST00000459915 5/12 1 NA TGC G,A 8.236e-06 3:124658395 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 intron_variant 0.145147 0.2078 0.02653 0.078448 0.695100254780551 0.0455939 0.999996915329978 TRUE 1.21966e-05 ENSE00001078912_002 ENSE00001078912 002 3 124377231 124377400 + 47 87 36 C T 124377252 2469 22 AGACACAAGATGCCTGACTGTTCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658404 124658405 124658405 upstr_intron -26 -0.531914893617021 AGACACAAGATGCCTGACTGTTCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 185 491 0.999777337044055 1 0.999888668522027 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.159195943555964 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0825915372960349 NA FALSE NA 0.001 1.315 . intron_variant MODIFIER KALRN HGNC 4814 ENST00000459915 5/12 1 NA TCC C,T 8.236e-06 3:124658405 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 intron_variant 0.303357 0.21293 0.06361 0.078448 0.700606995153957 0.0455939 0.999996915329978 TRUE 4.06246e-06 ENSE00001078912_003 ENSE00001078912 003 3 124377231 124377400 + 47 87 36 A C 124377254 2470 24 AGACACAAGATGCCTGACTGTCCCCATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658406 124658407 124658407 upstr_intron -24 -0.48936170212766 AGACACAAGATGCCTGACTGTCCCCATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 87 351 1 1 1 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.159418606511909 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0827028687740076 NA FALSE NA 0 -2.123 rs190483474 intron_variant MODIFIER KALRN HGNC 4814 ENST00000459915 5/12 rs190483474 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0016 C:0 CAC A,C 9.884e-05 3:124658407 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 intron_variant -0.773935 0.09804 0.01624 0.078448 0.250702350541842 0.0455939 0.999996915329978 TRUE 6.09345e-05 ENSE00001078912_006 ENSE00001078912 006 3 124377231 124377400 + 47 87 36 T G 124377270 2473 40 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCGCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658422 124658423 124658423 upstr_intron -8 -0.148936170212766 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCGCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 351 449 1 0.995287655387886 0.997643827693943 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.159418606511909 0.00127478642399204 0.989944154653519 0.917297131225992 NA 0.0803466964679507 NA FALSE NA 0 0.114 . splice_region_variant&intron_variant LOW KALRN HGNC 4814 ENST00000459915 5/12 1 NA CTC T,G 8.236e-06 3:124658423 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 splice_region_variant 0.327482 0.22423 0.07319 0.078448 0.517178946146695 0.129676 0.999996915329978 TRUE 4.06118e-06 ENSE00001078912_007 ENSE00001078912 007 3 124377231 124377400 + 47 87 36 C T 124377281 2474 51 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGTGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658433 124658434 124658434 exon 4 0.0459770114942529 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGTGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 10 60 0.849203518172091 1 0.924601759086045 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.00862212468400003 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.00730462786005293 NA FALSE NA 1 2.112 . missense_variant MODERATE KALRN HGNC 4814 ENST00000459915 6/13 1 deleterious(0) probably_damaging(0.999) NA GCG C,T 1.647e-05 3:124658434 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 missense_variant 7.796444 0.97928 0.91024 0.638212 0.999187529435864 0 0.999996915329978 TRUE 1.62454e-05 ENSE00001078912_008 ENSE00001078912 008 3 124377231 124377400 + 47 87 36 G A 124377282 2475 52 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCAGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658434 124658435 124658435 exon 5 0.0574712643678161 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCAGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 72 34 0.997864767450446 1 0.998932383725223 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.157283373962356 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0816352524992307 NA FALSE NA 1 9.606 . missense_variant MODERATE KALRN HGNC 4814 ENST00000459915 6/13 1 deleterious(0) probably_damaging(0.983) NA CGG G,A 2.471e-05 3:124658435 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 missense_variant 7.717156 0.99411 0.99202 0.638212 0.999499841636883 0 0.999996915329978 TRUE 2.03054e-05 ENSE00001078912_009 ENSE00001078912 009 3 124377231 124377400 + 47 87 36 C G 124377287 2476 57 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGGTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658439 124658440 124658440 exon 10 0.114942528735632 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGGTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 545 393 1 1 1 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.159418606511909 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0827028687740076 NA FALSE NA 1 2.06 . missense_variant MODERATE KALRN HGNC 4814 ENST00000459915 6/13 1 deleterious(0) probably_damaging(0.959) NA GCT C,G 8.236e-06 3:124658440 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 missense_variant 5.764267 0.98518 0.9446 0.638212 0.998059182591625 0 0.999996915329978 TRUE 4.06091e-06 ENSE00001078912_018 ENSE00001078912 018 3 124377231 124377400 + 47 87 36 G A 124377322 2485 92 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCACGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658474 124658475 124658475 exon -43 0.517241379310345 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCACGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 36 35 1 1 1 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.159418606511909 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0827028687740076 NA FALSE NA 0.017 -0.54 . synonymous_variant LOW KALRN HGNC 4814 ENST00000459915 6/13 1 NA CGC G,A 1.647e-05 3:124658475 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 synonymous_variant 0.687674 0.12265 0.03543 0.638212 0.766068695633629 0 0.999996915329978 TRUE 2.03034e-05 ENSE00001078912_020 ENSE00001078912 020 3 124377231 124377400 + 47 87 36 G A 124377324 2487 94 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCACTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658476 124658477 124658477 exon -41 0.540229885057471 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCACTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 155 52 0.998016758630585 1 0.999008379315292 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.157435365142494 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0817112480892999 NA FALSE NA 0.999 4.9 rs144160219 missense_variant MODERATE KALRN HGNC 4814 ENST00000459915 6/13 rs144160219 1 deleterious(0.02) benign(0.126) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.002 A:0 CGC G,A 0.0002718 3:124658477 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 missense_variant 4.794169 0.9818 0.8976 0.638212 0.999553113801028 0 0.999996915329978 TRUE 0.000239582 ENSE00001078912_022 ENSE00001078912 022 3 124377231 124377400 + 47 87 36 T G 124377326 2489 96 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCGCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658478 124658479 124658479 exon -39 0.563218390804598 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCGCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 18 202 0.95 1 0.975 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.109418606511909 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0577028687740076 NA FALSE NA 1 7.827 rs56106611 missense_variant MODERATE KALRN HGNC 4814 ENST00000459915 6/13 rs56106611 1 deleterious(0) probably_damaging(0.966) G:0.0034 G:0.0008 G:0.0043 NA G:0 G:0.0109 G:0.002 G:0.0027 G:0.0147 CTC T,G 0.007223 3:124658479 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 missense_variant 5.530872 0.99278 0.98865 0.638212 0.996742672062816 0 0.999996915329978 TRUE 0.00704957 ENSE00001078912_025 ENSE00001078912 025 3 124377231 124377400 + 47 87 36 C T 124377337 2492 107 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATTGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658489 124658490 124658490 exon -28 0.689655172413793 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATTGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 445 86 0.994793658180504 0.998156542939086 0.996475100559795 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.154212264692414 0.004143673975192 0.989944154653519 0.917297131225992 NA 0.0791779693338029 NA FALSE NA 0.961 0.238 rs61745758 synonymous_variant LOW KALRN HGNC 4814 ENST00000459915 6/13 rs61745758 1 T:0.0120 T:0.0431 T:0.0043 NA T:0 T:0 T:0 T:0.0304 T:0.0001 TCG C,T 0.003286 3:124658490 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 synonymous_variant 2.202194 0.96975 0.77793 0.638212 0.780767039073219 0 0.999996915329978 TRUE 0.00262739 ENSE00001078912_032 ENSE00001078912 032 3 124377231 124377400 + 47 87 36 C T 124377352 2499 122 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGATGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658504 124658505 124658505 exon -13 0.862068965517241 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGATGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 427 121 1 1 1 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.159418606511909 0.00598713103610582 0.989944154653519 0.917297131225992 NA 0.0827028687740076 NA FALSE NA 0 -1.154 rs150581055 synonymous_variant LOW KALRN HGNC 4814 ENST00000459915 6/13 rs150581055 1 T:0.0024 T:0.0083 T:0.0014 NA T:0 T:0 T:0 T:0.0148 T:0.0005 ACG C,T 0.001598 3:124658505 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 synonymous_variant 0.830992 0.72215 0.08534 0.638212 0.27268535560564 0 0.999996915329978 TRUE 0.00161622 ENSE00001078912_033 ENSE00001078912 033 3 124377231 124377400 + 47 87 36 G A 124377353 2500 123 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACACCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 124658505 124658506 124658506 exon -12 0.873563218390805 AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACACCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG mutant NA NA NA NA NA 497 150 0.999917167191141 0.972688967256597 0.986303067223869 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 NA NA 0.159335773703051 -0.021323901707297 0.989944154653519 0.917297131225992 NA 0.0690059359978769 NA FALSE NA 0.001 0.513 . missense_variant MODERATE KALRN HGNC 4814 ENST00000459915 6/13 1 tolerated(1) benign(0.001) NA CGC G,A 2.471e-05 3:124658506 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00001078912 missense_variant -0.920749 0.73557 0.12082 0.638212 0.280962957275093 0 0.999996915329978 TRUE 3.24881e-05 ENSE00001078912_BRK ENSE00001078912 BRK 3 124377231 124377400 + 47 87 36 A,G; T,T NA NA NA AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCTTGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGCCAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG 124658383 124658553 NA NA NA NA NA NA AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCTTGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGCCAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG AGACACAAGATGCCTGACTGTCCACATGTCTCTCTCTGCTCTTTCAGGAGCGGAAGCTGCACATCTACGTGTGGTATTGTCAGAATAAGCCGCGCTCAGAGTACATCGTTGCTGAGTATGACGCCTACTTTGAGGTAAGCTGTGCAGGCTTTGCTGAACTGGGGTGGGAG control 70 61 0 0 0 38 1854 0 0 0 0.985537155404046 0.994351153902992 0.840581393488091 0.994012868963894 -0.985537155404046 -0.994351153902992 -0.840581393488091 -0.994012868963894 0.989944154653519 0.917297131225992 -0.989944154653519 -0.917297131225992 0.0726470234275263 TRUE TRUE NA NA NA NA NA KALRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KALRN NA NA NA ENSG00000160145 ENSE00001078912 NA NA NA NA NA NA NA 0.999996915329978 TRUE NA ENSE00001079193_000 ENSE00001079193 000 1 37335296 37335465 - 53 54 63 NA NA NA NA NA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 NA NA NA NA NA NA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA natural 100 65 0.998358028391558 0.99448997541442 0.996424001902989 1552 1314 0.971762088522291 0.922923726873754 0.947342907698023 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 0 0 0 0 0.996424001902989 0.947342907698023 0 0 0 FALSE FALSE NA NA NA NA NA GRIK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIK3 NA NA NA ENSG00000163873 ENSE00001079193 NA NA NA NA NA NA NA 0.999980170163858 TRUE NA ENSE00001079193_001 ENSE00001079193 001 1 37335296 37335465 - 53 54 63 G C 37335306 1247 160 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTGTCATGGATCA 36869694 36869864 36869704 36869705 36869705 downstr_intron 43 1.82692307692308 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTGTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant 22 19 0.993536541097118 0.998215927371258 0.995876234234188 1012 87 0.999545423561789 1 0.999772711780894 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 -0.00482148729444032 0.00372595195683767 0.0277833350394975 0.0770762731262455 0.996424001902989 0.947342907698023 -0.000547767668801324 0.0524298040828715 0.0529775717516728 FALSE FALSE 0 -0.038 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 5/14 1 NA AGA G,C 8.236e-06 1:36869705 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant -0.240453 0.14089 0.0244 0.061011 0.632463081823735 0.0455939 0.999980170163858 TRUE 8.15016e-06 ENSE00001079193_002 ENSE00001079193 002 1 37335296 37335465 - 53 54 63 C T 37335312 1248 154 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTAGGACTCTCATGGATCA 36869694 36869864 36869710 36869711 36869711 downstr_intron 37 1.71153846153846 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTAGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 316 140 1 0.991405065244874 0.995702532622437 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.0282379114777089 0.0684813383711199 0.996424001902989 0.947342907698023 NA 0.0483596249244144 NA FALSE NA 0 0.552 rs187126733 intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 5/14 rs187126733 1 T:0.0004 T:0 T:0 NA T:0 T:0.001 T:0.001 T:0.0007 T:0.003 CCA C,T 0.001944 1:36869711 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant 0.310243 0.23706 0.09876 0.061011 0.662015096659549 0.119696 0.999980170163858 TRUE 0.00185294 ENSE00001079193_003 ENSE00001079193 003 1 37335296 37335465 - 53 54 63 C T 37335323 1249 143 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACAGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869721 36869722 36869722 downstr_intron 26 1.5 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACAGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 1205 1857 0.906200868989723 0.963173410476501 0.934687139733112 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA -0.0655612195325677 0.0402496836027465 0.996424001902989 0.947342907698023 NA -0.0126557679649106 NA FALSE NA 0 0.166 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 5/14 1 NA CCG C,T 1.647e-05 1:36869722 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant -0.127418 0.14743 0.03776 0.061011 0.38694315814864 0.119696 0.999980170163858 TRUE 8.13921e-06 ENSE00001079193_004 ENSE00001079193 004 1 37335296 37335465 - 53 54 63 G A 37335324 1250 142 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCATGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869722 36869723 36869723 downstr_intron 25 1.48076923076923 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCATGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 621 435 0.87975055263498 0.996877967848457 0.938314260241718 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA -0.0920115358873115 0.0739542409747025 0.996424001902989 0.947342907698023 NA -0.00902864745630449 NA FALSE NA 0 -1.64 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 5/14 1 NA CGT G,A 8.236e-06 1:36869723 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant 0.016671 0.14292 0.0098 0.061011 0.490739541317425 0.119696 0.999980170163858 TRUE 8.13762e-06 ENSE00001079193_005 ENSE00001079193 005 1 37335296 37335465 - 53 54 63 A G 37335329 1251 137 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCCGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869727 36869728 36869728 downstr_intron 20 1.38461538461538 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCCGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 748 832 0.997800214726881 1 0.998900107363441 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.0260381262045903 0.0770762731262455 0.996424001902989 0.947342907698023 NA 0.0515571996654179 NA FALSE NA 0 -1.781 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 5/14 1 NA CAG A,G 3.295e-05 1:36869728 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant -0.331019 0.10181 0.01148 0.061011 0.366008502474481 0.119757 0.999980170163858 TRUE 1.62685e-05 ENSE00001079193_006 ENSE00001079193 006 1 37335296 37335465 - 53 54 63 G A 37335331 1252 135 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTTCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869729 36869730 36869730 downstr_intron 18 1.34615384615385 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTTCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 372 181 1 0.997436307356624 0.998718153678312 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.0282379114777089 0.0745125804828695 0.996424001902989 0.947342907698023 NA 0.0513752459802892 NA FALSE NA 0 1.494 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 5/14 rs570653894 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGA G,A 2.471e-05 1:36869730 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant -0.148676 0.14278 0.08844 0.061011 0.391672336224771 0.119757 0.999980170163858 TRUE 1.21997e-05 ENSE00001079193_007 ENSE00001079193 007 1 37335296 37335465 - 53 54 63 A G 37335336 1253 130 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCCGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869734 36869735 36869735 downstr_intron 13 1.25 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCCGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 506 636 0.896661733033963 0.996893525301064 0.946777629167514 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA -0.0751003554883282 0.07396979842731 0.996424001902989 0.947342907698023 NA -0.000565278530509083 NA FALSE NA 0 -1.612 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 5/14 1 NA CAG A,G 8.236e-06 1:36869735 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant 0.482738 0.15392 0.00824 0.061011 0.773167122748206 0.245636 0.999980170163858 TRUE NA ENSE00001079193_008 ENSE00001079193 008 1 37335296 37335465 - 53 54 63 G A 37335340 1254 126 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTATCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869738 36869739 36869739 downstr_intron 9 1.17307692307692 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTATCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant 11 11 1 0.994169183541498 0.997084591770749 747 326 0.993786591485701 0.954207797715636 0.973997194600669 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 0.00164197160844159 -0.000320791872922888 0.0220245029634104 0.0312840708418818 0.996424001902989 0.947342907698023 0.000660589867759354 0.0266542869026461 0.0259936970348867 FALSE FALSE 1 1.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:36869739 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant 1.644882 0.97497 0.76291 0.061011 0.6663674499177 0.421677 0.999980170163858 TRUE 0.000130068 ENSE00001079193_009 ENSE00001079193 009 1 37335296 37335465 - 53 54 63 G T 37335340 1255 126 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTAACTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869738 36869739 36869739 downstr_intron 9 1.17307692307692 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTAACTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 336 612 0.977562845095723 0.997406958302154 0.987484901698939 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.00580075657343182 0.0744832314283997 0.996424001902989 0.947342907698023 NA 0.0401419940009158 NA FALSE NA 1 1.75 NA NA NA GRIK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIK3 NA NA NA ENSG00000163873 ENSE00001079193 intron_variant 1.307662 0.97675 0.94455 0.061011 0.710241737118126 0.421677 0.999980170163858 TRUE 4.06461e-06 ENSE00001079193_011 ENSE00001079193 011 1 37335296 37335465 - 53 54 63 C T 37335376 1257 90 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAATACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869774 36869775 36869775 exon 27 0.5 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAATACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 466 208 1 1 1 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.0282379114777089 0.0770762731262455 0.996424001902989 0.947342907698023 NA 0.0526570923019772 NA FALSE NA 0.699 -0.13 . synonymous_variant LOW GRIK3 HGNC 4581 ENST00000373093 5/15 rs554313751 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 ACT C,T 1.647e-05 1:36869775 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 synonymous_variant 2.039047 0.9675 0.45801 0.553676 0.662108424758927 0 0.999980170163858 TRUE 8.1248e-06 ENSE00001079193_012 ENSE00001079193 012 1 37335296 37335465 - 53 54 63 A G 37335409 1258 57 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTCCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869807 36869808 36869808 upstr_intron -7 -0.0952380952380952 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTCCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 1328 173 0.934642270165753 1 0.967321135082877 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA -0.0371198183565381 0.0770762731262455 0.996424001902989 0.947342907698023 NA 0.0199782273848537 NA FALSE NA 0.004 0.799 . splice_region_variant&intron_variant LOW GRIK3 HGNC 4581 ENST00000373093 4/14 1 NA GAA A,G 4.942e-05 1:36869808 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 splice_region_variant -0.593414 0.18088 0.00487 0.061011 0.522401840565822 0.2167 0.999980170163858 TRUE 4.47027e-05 ENSE00001079193_013 ENSE00001079193 013 1 37335296 37335465 - 53 54 63 T C 37335428 1259 38 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGGTCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869826 36869827 36869827 upstr_intron -26 -0.396825396825397 GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGGTCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 599 95 1 0.97550399289522 0.98775199644761 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.0282379114777089 0.0525802660214651 0.996424001902989 0.947342907698023 NA 0.040409088749587 NA FALSE NA 0 -1.954 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 4/14 1 NA ATC T,C 8.236e-06 1:36869827 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant -0.189525 0.10783 0.00534 0.061011 0.479607426440421 0.0837856 0.999980170163858 TRUE 8.13656e-06 ENSE00001079193_015 ENSE00001079193 015 1 37335296 37335465 - 53 54 63 G T 37335436 1261 30 GGGGATGTGGGGAGGGCTGCCCAGGGGTTACCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869834 36869835 36869835 upstr_intron -34 -0.523809523809524 GGGGATGTGGGGAGGGCTGCCCAGGGGTTACCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 223 642 1 0.991272988588903 0.995636494294451 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.0282379114777089 0.0683492617151484 0.996424001902989 0.947342907698023 NA 0.0482935865964287 NA FALSE NA 0.001 0.437 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 4/14 1 NA GGA G,T 8.236e-06 1:36869835 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant -0.17772 0.20579 0.11562 0.061011 0.665027458595875 0.0465416 0.999980170163858 TRUE 4.07368e-06 ENSE00001079193_016 ENSE00001079193 016 1 37335296 37335465 - 53 54 63 C A 37335439 1262 27 GGGGATGTGGGGAGGGCTGCCCAGGGTTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869837 36869838 36869838 upstr_intron -37 -0.571428571428571 GGGGATGTGGGGAGGGCTGCCCAGGGTTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 389 17 0.936942916966951 1 0.968471458483475 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA -0.0348191715553401 0.0770762731262455 0.996424001902989 0.947342907698023 NA 0.0211285507854527 NA FALSE NA 0 -1.404 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 4/14 1 NA ACC C,A 8.237e-06 1:36869838 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant 0.022998 0.15537 0.00998 0.061011 0.440370913778123 0.0465416 0.999980170163858 TRUE 8.15209e-06 ENSE00001079193_017 ENSE00001079193 017 1 37335296 37335465 - 53 54 63 C T 37335441 1263 25 GGGGATGTGGGGAGGGCTGCCCAGAGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869839 36869840 36869840 upstr_intron -39 -0.603174603174603 GGGGATGTGGGGAGGGCTGCCCAGAGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 62 331 0.981289748399475 0.99366400044836 0.987476874423918 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.00952765987718385 0.0707402735746057 0.996424001902989 0.947342907698023 NA 0.0401339667258948 NA FALSE NA 0 0.404 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 4/14 rs370693961 1 NA T:0 T:0.0001 CCC C,T 2.471e-05 1:36869840 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant 0.135864 0.20584 0.08644 0.061011 0.293316068882954 0.0465416 0.999980170163858 TRUE 1.22405e-05 ENSE00001079193_018 ENSE00001079193 018 1 37335296 37335465 - 53 54 63 C A 37335452 1264 14 GGGGATGTGGGGATGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 36869850 36869851 36869851 upstr_intron -50 -0.777777777777778 GGGGATGTGGGGATGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA mutant NA NA NA NA NA 45 281 0.996576936566006 0.994329606279986 0.995453271422996 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 NA NA 0.0248148480437147 0.0714058794062318 0.996424001902989 0.947342907698023 NA 0.0481103637249732 NA FALSE NA 0 -0.729 . intron_variant MODIFIER GRIK3 HGNC 4581 ENST00000373093 4/14 1 NA CCT C,A 8.237e-06 1:36869851 GRIK3 HGNC Symbol protein_coding 238602 ENSG00000163873 ENSE00001079193 intron_variant 0.304802 0.20677 0.06779 0.061011 0.730363434869236 0.0459923 0.999980170163858 TRUE 1.23043e-05 ENSE00001079193_BRK ENSE00001079193 BRK 1 37335296 37335465 - 53 54 63 A,G; T,T NA NA NA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCTTGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGCCAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA 36869694 36869864 NA NA NA NA NA NA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCTTGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGCCAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA GGGGATGTGGGGAGGGCTGCCCAGGGGTTCCCTGCTGATCACTAACACTCTGCTTTTCTGCAGGCCATGGCCATGGGCATGATGACTGAGTACTACCACTTCATCTTCACCACTCTGGTAATGTACCTCTGGGTCCTGGCACGGGAAAGGGGTGGGACTCTCATGGATCA control 134 242 0 0 0 NA NA NA NA NA 0.998358028391558 0.99448997541442 0.971762088522291 0.922923726873754 -0.998358028391558 -0.99448997541442 NA NA 0.996424001902989 0.947342907698023 -0.996424001902989 NA NA NA TRUE NA NA NA NA NA GRIK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIK3 NA NA NA ENSG00000163873 ENSE00001079193 NA NA NA NA NA NA NA 0.999980170163858 TRUE NA ENSE00001079409_000 ENSE00001079409 000 3 126211231 126211400 - 30 99 41 NA NA NA NA NA GCCTATGTTGGCTGAGATGCCAGTTGCCCTTCTCTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT 126492387 126492557 NA NA NA NA NA NA GCCTATGTTGGCTGAGATGCCAGTTGCCCTTCTCTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT GCCTATGTTGGCTGAGATGCCAGTTGCCCTTCTCTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT natural 86 85 0.997646162221369 0.996680239625589 0.997163200923479 541 1430 0.994630068128366 0.807605867693448 0.901117967910907 0.997646162221369 0.996680239625589 0.994630068128366 0.807605867693448 0 0 0 0 0.997163200923479 0.901117967910907 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UROC1 NA NA NA ENSG00000159650 ENSE00001079409 NA NA NA NA NA NA NA 3.35644591456772e-10 FALSE NA ENSE00001079409_022 ENSE00001079409 022 3 126211231 126211400 - 30 99 41 G C 126211367 2617 34 GCCTATGTTGGCTGAGATGCCAGTTGCCCTTCTGTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT 126492387 126492557 126492523 126492524 126492524 upstr_intron -8 -0.170731707317073 GCCTATGTTGGCTGAGATGCCAGTTGCCCTTCTGTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT GCCTATGTTGGCTGAGATGCCAGTTGCCCTTCTCTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT mutant NA NA NA NA NA 67 123 0.95 0.95 0.95 0.997646162221369 0.996680239625589 0.994630068128366 0.807605867693448 NA NA -0.0446300681283659 0.142394132306552 0.997163200923479 0.901117967910907 NA 0.048882032089093 NA FALSE NA 0 -0.03 NA NA NA UROC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:126492524 UROC1 HGNC Symbol protein_coding 36492 ENSG00000159650 ENSE00001079409 splice_region_variant -0.357726 0.19406 0.05821 0.053691 0.396635599014214 0.262234 3.35644591456772e-10 FALSE 8.29772e-06 ENSE00001079409_023 ENSE00001079409 023 3 126211231 126211400 - 30 99 41 G A 126211369 2618 32 GCCTATGTTGGCTGAGATGCCAGTTGCCCTTTTCTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT 126492387 126492557 126492525 126492526 126492526 upstr_intron -10 -0.219512195121951 GCCTATGTTGGCTGAGATGCCAGTTGCCCTTTTCTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT GCCTATGTTGGCTGAGATGCCAGTTGCCCTTCTCTCCTCAGGTGGTGGGCTCCCAGGCAAGGATCCTGTACTCAGACCAGAAGGGCCGCGTGGCCATCGCTGTGGCCATTAACCAGGCCATCGCCTGCAGGAGGATCAAGGTGAGGTGTCCTGTGCTCTGGGGGAAGCAT mutant NA NA NA NA NA 32 53 0.942720914905921 1 0.971360457452961 0.997646162221369 0.996680239625589 0.994630068128366 0.807605867693448 NA NA -0.0519091532224447 0.192394132306552 0.997163200923479 0.901117967910907 NA 0.0702424895420536 NA FALSE NA 0 0.103 . intron_variant MODIFIER UROC1 HGNC 26444 ENST00000383579 16/20 1 NA AGA G,A 1.648e-05 3:126492526 UROC1 HGNC Symbol protein_coding 36492 ENSG00000159650 ENSE00001079409 intron_variant 0.011466 0.20582 0.04893 0.053691 0.294645689861363 0.114692 3.35644591456772e-10 FALSE 1.66366e-05 ENSE00001080055_000 ENSE00001080055 000 3 196053785 196053954 - 41 78 51 NA NA NA NA NA ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC 196326913 196327083 NA NA NA NA NA NA ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC natural 795 1008 0.847237200524184 0.843397795752995 0.845317498138589 369 578 0.704356307846114 0.651506327611747 0.677931317728931 0.847237200524184 0.843397795752995 0.704356307846114 0.651506327611747 0 0 0 0 0.845317498138589 0.677931317728931 0 0 0 FALSE FALSE NA NA NA NA NA TM4SF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF19 NA NA NA ENSG00000145107 ENSE00003706439 NA NA NA NA NA NA NA 0.0139308428726723 FALSE NA ENSE00001080055_BRK ENSE00001080055 BRK 3 196053785 196053954 - 41 78 51 A,G; T,T NA NA NA ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCTTGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCCCAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC 196326913 196327083 NA NA NA NA NA NA ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCTTGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCCCAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC control 1121 304 0.00352236291202957 0.00858178599633127 0.00605207445418042 631 237 0 0.0330189660624917 0.0165094830312459 0.847237200524184 0.843397795752995 0.704356307846114 0.651506327611747 -0.843714837612154 -0.834816009756664 -0.704356307846114 -0.618487361549256 0.845317498138589 0.677931317728931 -0.839265423684409 -0.661421834697685 0.177843588986724 TRUE TRUE NA NA NA NA NA TM4SF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF19 NA NA NA ENSG00000145107 ENSE00003706439 NA NA NA NA NA NA NA 0.0139308428726723 FALSE NA ENSE00001080265_000 ENSE00001080265 000 4 6080616 6080785 - 50 60 60 NA NA NA NA NA GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 NA NA NA NA NA NA GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC natural 159 160 0.997043272326318 0.990353216936204 0.993698244631261 3311 3265 0.980227441684747 0.814839699425277 0.897533570555012 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 0 0 0 0 0.993698244631261 0.897533570555012 0 0 0 FALSE FALSE NA NA NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP1 NA NA NA ENSG00000152969 ENSE00003577773 NA NA NA NA NA NA NA 0.993166783894696 TRUE NA ENSE00001080265_001 ENSE00001080265 001 4 6080616 6080785 - 50 60 60 A C 6080626 385 160 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGGGTCACGGATC 6078888 6079058 6078898 6078899 6078899 downstr_intron 40 1.81632653061224 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGGGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 111 149 1 0.859200960294819 0.929600480147409 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0197725583152532 0.0443612608695417 0.993698244631261 0.897533570555012 NA 0.0320669095923974 NA FALSE NA 0 -0.028 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 8/13 1 NA CAC A,C 8.236e-06 4:6078899 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant 0.014932 0.18395 0.03813 0.078448 0.429752425232849 0.210977 0.993166783894696 TRUE 4.06765e-06 ENSE00001080265_002 ENSE00001080265 002 4 6080616 6080785 - 50 60 60 C G 6080627 386 159 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTCTGTCACGGATC 6078888 6079058 6078899 6078900 6078900 downstr_intron 39 1.79591836734694 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTCTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 244 50 0.974344750246199 0.943425912644836 0.958885331445518 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA -0.00588269143854747 0.128586213219559 0.993698244631261 0.897533570555012 NA 0.0613517608905058 NA FALSE NA 0 -0.543 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 8/13 1 NA ACA C,G 8.236e-06 4:6078900 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant 0.046715 0.17215 0.0171 0.078448 0.470723937068716 0.148845 0.993166783894696 TRUE 8.13703e-06 ENSE00001080265_003 ENSE00001080265 003 4 6080616 6080785 - 50 60 60 G A 6080629 387 157 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGTTGTGTCACGGATC 6078888 6079058 6078901 6078902 6078902 downstr_intron 37 1.75510204081633 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGTTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 1805 1815 0.996255017129958 0.996002115819603 0.99612856647478 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0160275754452108 0.181162416394326 0.993698244631261 0.897533570555012 NA 0.0985949959197684 NA FALSE NA 0.007 0.61 rs115107187 intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 8/13 rs115107187 1 A:0.0038 A:0.0136 A:0.0014 NA A:0 A:0 A:0 A:0.0136 A:0 AGC G,A 0.001425 4:6078902 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant 0.298646 0.24027 0.04248 0.162113 0.691135262415775 0.148845 0.993166783894696 TRUE 0.00106558 ENSE00001080265_004 ENSE00001080265 004 4 6080616 6080785 - 50 60 60 C T 6080630 388 156 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCACTGTGTCACGGATC 6078888 6079058 6078902 6078903 6078903 downstr_intron 36 1.73469387755102 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCACTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 622 110 0.991671930538614 0.954599190716581 0.973135560627598 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0114444888538673 0.139759491291304 0.993698244631261 0.897533570555012 NA 0.0756019900725858 NA FALSE NA 0 -1.329 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:6078903 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant -0.058092 0.14379 0.01806 0.162113 0.762832175402293 0.148845 0.993166783894696 TRUE 0.00283538 ENSE00001080265_005 ENSE00001080265 005 4 6080616 6080785 - 50 60 60 C A 6080630 389 156 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCTCTGTGTCACGGATC 6078888 6079058 6078902 6078903 6078903 downstr_intron 36 1.73469387755102 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCTCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 994 2671 0.930696109504697 0.986333099346383 0.95851460442554 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA -0.04953133218005 0.171493399921106 0.993698244631261 0.897533570555012 NA 0.0609810338705281 NA FALSE NA 0 -1.329 NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP1 NA NA NA ENSG00000152969 ENSE00003577773 intron_variant 0.039097 0.12369 0.00633 0.162113 0.606426049881707 0.148845 0.993166783894696 TRUE 0.000117972 ENSE00001080265_007 ENSE00001080265 007 4 6080616 6080785 - 50 60 60 G A 6080640 391 146 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCTTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078912 6078913 6078913 downstr_intron 26 1.53061224489796 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCTTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 373 982 0.978924843830334 0.998117821286983 0.988521332558658 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA -0.00130259785441333 0.183278121861706 0.993698244631261 0.897533570555012 NA 0.0909877620036463 NA FALSE NA 0.004 0.107 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 8/13 1 NA AGG G,A 8.236e-06 4:6078913 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant 0.615334 0.25813 0.05293 0.162113 0.870469474770815 0.147335 0.993166783894696 TRUE 4.06597e-06 ENSE00001080265_008 ENSE00001080265 008 4 6080616 6080785 - 50 60 60 A C 6080644 392 142 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCGGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078916 6078917 6078917 downstr_intron 22 1.44897959183673 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCGGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 1547 412 0.980603896577303 0.968860287297244 0.974732091937274 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.000376454892556111 0.154020587871967 0.993698244631261 0.897533570555012 NA 0.0771985213822616 NA FALSE NA 0 0.236 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 8/13 rs371663972 1 NA C:0 C:0.0001 CAG A,C 5.765e-05 4:6078917 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant 0.256577 0.17128 0.04972 0.162113 0.796105578762512 0.147335 0.993166783894696 TRUE 4.06547e-05 ENSE00001080265_010 ENSE00001080265 010 4 6080616 6080785 - 50 60 60 C T 6080655 394 131 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCAATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078927 6078928 6078928 downstr_intron 11 1.22448979591837 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCAATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 998 859 0.996186017021626 0.993836481954703 0.995011249488164 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0159585753368787 0.178996782529426 0.993698244631261 0.897533570555012 NA 0.0974776789331523 NA FALSE NA 0 -2.381 rs142678738 intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 8/13 rs142678738 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCG C,T 4.942e-05 4:6078928 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant 0.21485 0.29054 0.0151 0.162113 0.590492040360381 0.122122 0.993166783894696 TRUE 4.87849e-05 ENSE00001080265_011 ENSE00001080265 011 4 6080616 6080785 - 50 60 60 G A 6080656 395 130 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGTGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078928 6078929 6078929 downstr_intron 10 1.20408163265306 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGTGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 282 333 0.979151706389536 0.987564497569472 0.983358101979504 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA -0.00107573529521099 0.172724798144195 0.993698244631261 0.897533570555012 NA 0.0858245314244921 NA FALSE NA 0 -0.44 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 8/13 rs202225279 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGC G,A 7.413e-05 4:6078929 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant -0.188489 0.17462 0.01698 0.162113 0.700860950914866 0.122122 0.993166783894696 TRUE 0.000138235 ENSE00001080265_012 ENSE00001080265 012 4 6080616 6080785 - 50 60 60 C T 6080663 396 123 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTAAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078935 6078936 6078936 downstr_intron 3 1.06122448979592 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTAAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 216 522 1 0.999854055515668 0.999927027757834 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0197725583152532 0.185014356090391 0.993698244631261 0.897533570555012 NA 0.102393457202822 NA FALSE NA 1 0.478 . splice_region_variant&intron_variant&NMD_transcript_variant LOW JAKMIP1 HGNC 26460 ENST00000473053 8/13 1 NA TCA C,T 8.236e-06 4:6078936 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 splice_region_variant 1.490074 0.96446 0.5759 0.162113 0.852546116539538 0.491479 0.993166783894696 TRUE 4.06517e-06 ENSE00001080265_013 ENSE00001080265 013 4 6080616 6080785 - 50 60 60 G T 6080669 397 117 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCAAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078941 6078942 6078942 exon -4 0.95 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCAAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 31 753 1 0.998982745347345 0.999491372673672 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0197725583152532 0.184143045922067 0.993698244631261 0.897533570555012 NA 0.10195780211866 NA FALSE NA 1 1.164 . synonymous_variant&NMD_transcript_variant LOW JAKMIP1 HGNC 26460 ENST00000473053 8/14 1 NA TGG G,T 8.236e-06 4:6078942 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 synonymous_variant 0.32615 0.96421 0.39648 0.615465 0.742865976900404 0 0.993166783894696 TRUE 4.06544e-06 ENSE00001080265_014 ENSE00001080265 014 4 6080616 6080785 - 50 60 60 C T 6080672 398 114 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCACCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078944 6078945 6078945 exon -7 0.9 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCACCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 7659 1376 0.996780479811578 0.999309755785385 0.998045117798482 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0165530381268312 0.184470056360108 0.993698244631261 0.897533570555012 NA 0.10051154724347 NA FALSE NA 0 -3.25 . synonymous_variant&NMD_transcript_variant LOW JAKMIP1 HGNC 26460 ENST00000473053 8/14 COSM4125381&COSM4125380 1 NA GCG C,T 2.471e-05 4:6078945 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 synonymous_variant 1.645544 0.12117 0.00931 0.615465 0.786648322425262 0 0.993166783894696 TRUE 2.43942e-05 ENSE00001080265_018 ENSE00001080265 018 4 6080616 6080785 - 50 60 60 C T 6080706 402 80 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCACTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078978 6078979 6078979 exon 20 0.333333333333333 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCACTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 61 1714 0.967046584631327 0.9855517006303 0.976299142630813 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA -0.0131808570534202 0.170712001205023 0.993698244631261 0.897533570555012 NA 0.0787655720758012 NA FALSE NA 0.981 2.319 . missense_variant&NMD_transcript_variant MODERATE JAKMIP1 HGNC 26460 ENST00000473053 8/14 1 tolerated(0.09) benign(0.016) NA GCG C,T 1.647e-05 4:6078979 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 missense_variant 4.890843 0.98503 0.85685 0.706298 0.998453589488205 0 0.993166783894696 TRUE 1.62549e-05 ENSE00001080265_019 ENSE00001080265 019 4 6080616 6080785 - 50 60 60 G A 6080707 403 79 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGTGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6078979 6078980 6078980 exon 19 0.316666666666667 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGTGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 610 238 0.999932516081563 0.969869898935815 0.984901207508689 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0197050743968157 0.155030199510538 0.993698244631261 0.897533570555012 NA 0.0873676369536769 NA FALSE NA 1 4.36 . missense_variant&NMD_transcript_variant MODERATE JAKMIP1 HGNC 26460 ENST00000473053 8/14 rs567561103&COSM179384&COSM179385 1 deleterious(0.02) possibly_damaging(0.857) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 4.118e-05 4:6078980 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 missense_variant 7.816281 0.98494 0.92583 0.706298 0.999389747466258 0 0.993166783894696 TRUE 2.84539e-05 ENSE00001080265_021 ENSE00001080265 021 4 6080616 6080785 - 50 60 60 A G 6080734 405 52 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTCCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6079006 6079007 6079007 upstr_intron -9 -0.133333333333333 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTCCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 383 826 0.978389607600798 0.976513092745533 0.977451350173166 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA -0.00183783408394855 0.161673393320256 0.993698244631261 0.897533570555012 NA 0.0799177796181536 NA FALSE NA 0.746 1.859 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 7/13 1 NA GAA A,G 8.236e-06 4:6079007 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant 0.843685 0.96746 0.71738 0.053691 0.56791792750045 0.784128 0.993166783894696 TRUE 4.06276e-06 ENSE00001080265_022 ENSE00001080265 022 4 6080616 6080785 - 50 60 60 A C 6080738 406 48 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGGGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6079010 6079011 6079011 upstr_intron -13 -0.2 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGGGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 795 141 0.797320328476507 0.785951913403704 0.791636120940105 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA -0.182907113208239 -0.0288877860215735 0.993698244631261 0.897533570555012 NA -0.105897449614906 NA FALSE NA 0.369 3.19 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 7/13 1 NA CAC A,C 8.236e-06 4:6079011 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant -0.113465 0.3713 0.57608 0.053691 0.571887337890243 0.148795 0.993166783894696 TRUE 4.06336e-06 ENSE00001080265_024 ENSE00001080265 024 4 6080616 6080785 - 50 60 60 C T 6080742 408 44 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCATTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6079014 6079015 6079015 upstr_intron -17 -0.266666666666667 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCATTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 944 74 0.998773930552722 1 0.999386965276361 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0185464888679756 0.185160300574723 0.993698244631261 0.897533570555012 NA 0.101853394721349 NA FALSE NA 0 -0.252 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 7/13 rs536097858 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 ACG C,T 7.413e-05 4:6079015 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant -0.149379 0.22715 0.01647 0.053691 0.557385936521735 0.138247 0.993166783894696 TRUE 5.69078e-05 ENSE00001080265_025 ENSE00001080265 025 4 6080616 6080785 - 50 60 60 G A 6080743 409 43 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACTGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6079015 6079016 6079016 upstr_intron -18 -0.283333333333333 GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACTGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 909 96 0.997753317928635 1 0.998876658964317 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.017525876243888 0.185160300574723 0.993698244631261 0.897533570555012 NA 0.101343088409305 NA FALSE NA 0 -2.521 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 7/13 1 NA CGG G,A 6.589e-05 4:6079016 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant -0.408633 0.16688 0.00502 0.053691 0.4800884564773 0.139561 0.993166783894696 TRUE 8.12988e-05 ENSE00001080265_027 ENSE00001080265 027 4 6080616 6080785 - 50 60 60 A G 6080760 411 26 GGCTTTGGTTTGTGAGATGTGAGGCCGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6079032 6079033 6079033 upstr_intron -35 -0.566666666666667 GGCTTTGGTTTGTGAGATGTGAGGCCGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 1666 1325 1 0.999683430234876 0.999841715117438 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA 0.0197725583152532 0.184843730809599 0.993698244631261 0.897533570555012 NA 0.102308144562426 NA FALSE NA 0.001 -0.184 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 7/13 rs371776943 1 NA G:0 G:0.0001 CAG A,G 4.942e-05 4:6079033 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant 0.226274 0.25516 0.04805 0.053691 0.593974428290137 0.0716755 0.993166783894696 TRUE 6.11516e-05 ENSE00001080265_028 ENSE00001080265 028 4 6080616 6080785 - 50 60 60 C T 6080774 412 12 GGCTTTGGTTTATGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 6079046 6079047 6079047 upstr_intron -49 -0.8 GGCTTTGGTTTATGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC mutant NA NA NA NA NA 6451 368 0.959214230916611 0.991745388523469 0.97547980972004 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 NA NA -0.0210132107681357 0.176905689098192 0.993698244631261 0.897533570555012 NA 0.0779462391650284 NA FALSE NA 0 -0.031 . intron_variant&NMD_transcript_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000473053 7/13 1 NA ACA C,T 3.295e-05 4:6079047 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00003577773 intron_variant -0.155585 0.15456 0.01418 0.053691 0.524572722579355 0.0726527 0.993166783894696 TRUE 1.64669e-05 ENSE00001080265_BRK ENSE00001080265 BRK 4 6080616 6080785 - 50 60 60 A,G; T,T NA NA NA GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTTTGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGCCGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC 6078888 6079058 NA NA NA NA NA NA GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTTTGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGCCGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC GGCTTTGGTTTGTGAGATGTGAGGCTGGCTGGAAATGCCAACCGTTGTGTTTCCTTCTAGGAGAGAGAACGGCTGTTGCGCTCCAAAAGGCATCGAGGGAAAAGTCTGAAACCGCCCAAGGTGAGCCTGCGATGGTGCACCTGCCCTACCTTGCCGCTGTGTCACGGATC control 47 11 0.181434926458089 0 0.0907174632290444 1480 181 0.0291774973645656 0.00716016371381747 0.0181688305391915 0.997043272326318 0.990353216936204 0.980227441684747 0.814839699425277 -0.815608345868229 -0.990353216936204 -0.951049944320181 -0.80767953571146 0.993698244631261 0.897533570555012 -0.902980781402217 -0.87936474001582 0.0236160413863964 TRUE TRUE NA NA NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP1 NA NA NA ENSG00000152969 ENSE00003577773 NA NA NA NA NA NA NA 0.993166783894696 TRUE NA ENSE00001080338_000 ENSE00001080338 000 4 8046850 8047019 - 41 78 51 NA NA NA NA NA GGCCCCGAATGTTGGTACCTGCCTTCAATCTCTTCCTCTCTCCTTTCTCAGGAAACCAGAACTTCCTCAGAGAGCATCATTTCTGTCCCTGCTTCCAGCACCTCAGGGTCTCCGAGCCGTGTGATTTATGTAAGTCAGGGCCTTTTTATGGGGACGGCGGTGGGAGGGTG 8045122 8045292 NA NA NA NA NA NA GGCCCCGAATGTTGGTACCTGCCTTCAATCTCTTCCTCTCTCCTTTCTCAGGAAACCAGAACTTCCTCAGAGAGCATCATTTCTGTCCCTGCTTCCAGCACCTCAGGGTCTCCGAGCCGTGTGATTTATGTAAGTCAGGGCCTTTTTATGGGGACGGCGGTGGGAGGGTG GGCCCCGAATGTTGGTACCTGCCTTCAATCTCTTCCTCTCTCCTTTCTCAGGAAACCAGAACTTCCTCAGAGAGCATCATTTCTGTCCCTGCTTCCAGCACCTCAGGGTCTCCGAGCCGTGTGATTTATGTAAGTCAGGGCCTTTTTATGGGGACGGCGGTGGGAGGGTG natural 66 38 0.993576427328668 0.993700214287538 0.993638320808103 1652 1221 0.994824496924875 0.971544469375921 0.983184483150398 0.993576427328668 0.993700214287538 0.994824496924875 0.971544469375921 0 0 0 0 0.993638320808103 0.983184483150398 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00001080338 NA NA NA NA NA NA NA NA NA NA ENSE00001080407_000 ENSE00001080407 000 1 41232528 41232697 + 62 57 51 NA NA NA NA NA GACGATCAGGCGATCTGTCGAACATTTCCCAGGTCTGATGGGTGTGCACACCTGTAAGGTTTCTTTCAGGCACCTTCGAGGCTTCCCCTGACTTGCATTTCTTTGCCCCTTGAGAACAAGATGGTAAGAGAAAACACTTTGAATCTAATGTTCCAATTACCACCCATGCC 40766855 40767025 NA NA NA NA NA NA GGCATGGGTGGTAATTGGAACATTAGATTCAAAGTGTTTTCTCTTACCATCTTGTTCTCAAGGGGCAAAGAAATGCAAGTCAGGGGAAGCCTCGAAGGTGCCTGAAAGAAACCTTACAGGTGTGCACACCCATCAGACCTGGGAAATGTTCGACAGATCGCCTGATCGTC GGCATGGGTGGTAATTGGAACATTAGATTCAAAGTGTTTTCTCTTACCATCTTGTTCTCAAGGGGCAAAGAAATGCAAGTCAGGGGAAGCCTCGAAGGTGCCTGAAAGAAACCTTACAGGTGTGCACACCCATCAGACCTGGGAAATGTTCGACAGATCGCCTGATCGTC natural 130 190 0.975924217249085 0.955875600592601 0.965899908920843 979 982 0.877871235849452 0.697523718787382 0.787697477318417 0.975924217249085 0.955875600592601 0.877871235849452 0.697523718787382 0 0 0 0 0.965899908920843 0.787697477318417 0 0 0 FALSE FALSE NA NA NA NA NA NFYC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFYC NA NA NA ENSG00000066136 ENSE00001080407 NA NA NA NA NA NA NA 0.631959350371475 FALSE NA ENSE00001080407_001 ENSE00001080407 001 1 41232528 41232697 + 62 57 51 A G 41232552 1564 25 GACGATCAGGCGATCTGTCGAACATTTCCCAGGTCTGATGGGTGTGCACACCTGTAAGGTTTCTTTCAGGCACCTTCGAGGCTTCCCCTGACTTGCATTTCTTTGCCCCTTGAGAACAAGATGGTAAGAGAAAACACTTTGAATCCAATGTTCCAATTACCACCCATGCC 40766855 40767025 40766879 40766880 40766880 upstr_intron -38 -0.596774193548387 GGCATGGGTGGTAATTGGAACATTGGATTCAAAGTGTTTTCTCTTACCATCTTGTTCTCAAGGGGCAAAGAAATGCAAGTCAGGGGAAGCCTCGAAGGTGCCTGAAAGAAACCTTACAGGTGTGCACACCCATCAGACCTGGGAAATGTTCGACAGATCGCCTGATCGTC GGCATGGGTGGTAATTGGAACATTAGATTCAAAGTGTTTTCTCTTACCATCTTGTTCTCAAGGGGCAAAGAAATGCAAGTCAGGGGAAGCCTCGAAGGTGCCTGAAAGAAACCTTACAGGTGTGCACACCCATCAGACCTGGGAAATGTTCGACAGATCGCCTGATCGTC mutant NA NA NA NA NA 116 162 0.883505657144247 0.998042454576196 0.940774055860221 0.975924217249085 0.955875600592601 0.877871235849452 0.697523718787382 NA NA 0.00563442129479463 0.300518735788814 0.965899908920843 0.787697477318417 NA 0.153076578541804 NA FALSE NA 0.002 0.46 . downstream_gene_variant MODIFIER NFYC HGNC 7806 ENST00000525349 rs370957142 1 NA G:0 G:0.0003 TAG A,G 0.0004312 1:40766880 NFYC HGNC Symbol protein_coding 79955 ENSG00000066136 ENSE00001080407 non_coding_transcript_exon_variant -0.049723 0.09294 0.00201 0.156188 0.373253509507828 0.115691 0.631959350371475 FALSE 0.000527845 ENSE00001080407_002 ENSE00001080407 002 1 41232528 41232697 + 62 57 51 G A 41232612 1565 85 GACGATCAGGCGATCTGTCGAACATTTCCCAGGTCTGATGGGTGTGCACACCTGTAAGGTTTCTTTCAGGCACCTTCGAGGCTTCTCCTGACTTGCATTTCTTTGCCCCTTGAGAACAAGATGGTAAGAGAAAACACTTTGAATCTAATGTTCCAATTACCACCCATGCC 40766855 40767025 40766939 40766940 40766940 exon 23 0.403508771929825 GGCATGGGTGGTAATTGGAACATTAGATTCAAAGTGTTTTCTCTTACCATCTTGTTCTCAAGGGGCAAAGAAATGCAAGTCAGGAGAAGCCTCGAAGGTGCCTGAAAGAAACCTTACAGGTGTGCACACCCATCAGACCTGGGAAATGTTCGACAGATCGCCTGATCGTC GGCATGGGTGGTAATTGGAACATTAGATTCAAAGTGTTTTCTCTTACCATCTTGTTCTCAAGGGGCAAAGAAATGCAAGTCAGGGGAAGCCTCGAAGGTGCCTGAAAGAAACCTTACAGGTGTGCACACCCATCAGACCTGGGAAATGTTCGACAGATCGCCTGATCGTC mutant 26 16 0.978685854293209 0.980884486958581 0.979785170625895 12 12 0.843262051238905 1 0.921631025619452 0.975924217249085 0.955875600592601 0.877871235849452 0.697523718787382 0.00276163704412391 0.0250088863659804 -0.0346091846105476 0.302476281212618 0.965899908920843 0.787697477318417 0.0138852617050522 0.133933548301035 0.120048286595983 FALSE FALSE 0 0.423 . downstream_gene_variant MODIFIER NFYC HGNC 7806 ENST00000525349 1 NA GGG G,A 5.838e-05 1:40766940 NFYC HGNC Symbol protein_coding 79955 ENSG00000066136 ENSE00001080407 missense_variant 1.289197 0.16687 0.03219 0.719381 0.717320055211898 0 0.631959350371475 FALSE 7.18541e-05 ENSE00001080407_005 ENSE00001080407 005 1 41232528 41232697 + 62 57 51 C T 41232678 1568 151 GACGATCAGGCGATCTGTCAAACATTTCCCAGGTCTGATGGGTGTGCACACCTGTAAGGTTTCTTTCAGGCACCTTCGAGGCTTCCCCTGACTTGCATTTCTTTGCCCCTTGAGAACAAGATGGTAAGAGAAAACACTTTGAATCTAATGTTCCAATTACCACCCATGCC 40766855 40767025 40767005 40767006 40767006 downstr_intron 32 1.64 GGCATGGGTGGTAATTGGAACATTAGATTCAAAGTGTTTTCTCTTACCATCTTGTTCTCAAGGGGCAAAGAAATGCAAGTCAGGGGAAGCCTCGAAGGTGCCTGAAAGAAACCTTACAGGTGTGCACACCCATCAGACCTGGGAAATGTTTGACAGATCGCCTGATCGTC GGCATGGGTGGTAATTGGAACATTAGATTCAAAGTGTTTTCTCTTACCATCTTGTTCTCAAGGGGCAAAGAAATGCAAGTCAGGGGAAGCCTCGAAGGTGCCTGAAAGAAACCTTACAGGTGTGCACACCCATCAGACCTGGGAAATGTTCGACAGATCGCCTGATCGTC mutant 33 96 0.85 0.85 0.85 545 113 0.879277463215545 0.86078156949864 0.870029516357093 0.975924217249085 0.955875600592601 0.877871235849452 0.697523718787382 -0.125924217249085 -0.105875600592601 0.00140622736609275 0.163257850711259 0.965899908920843 0.787697477318417 -0.115899908920843 0.0823320390386756 0.198231947959519 FALSE FALSE 0.003 0.193 . downstream_gene_variant MODIFIER NFYC HGNC 7806 ENST00000525349 1 NA TCG C,T 3.43e-05 1:40767006 NFYC HGNC Symbol protein_coding 79955 ENSG00000066136 ENSE00001080407 non_coding_transcript_exon_variant -0.181963 0.09664 0.00072 0.156188 0.613771945084959 0.0540496 0.631959350371475 FALSE 1.97088e-05 ENSE00001080523_000 ENSE00001080523 000 1 43634575 43634744 - 35 90 45 NA NA NA NA NA GCCTCTTCCTGTTCCCTGCACACTTTTCTTCTCACCTTCTTCCCGTATTTCCTAAGTGCTCGCAGTTGCTTAGCTTTTTCAGACCTCTCCATGGCAGCCTGTTTAGTCTGCAGCTTCTGTCGAATCTACAACACAAAATGCTGTCAGTTCATGTCATTTGAATCTGGAAT 43168903 43169073 NA NA NA NA NA NA ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC natural NA NA NA NA NA 1127 1130 0.8992858915489 0.999197927662245 0.949241909605573 NA NA 0.8992858915489 0.999197927662245 NA NA 0 0 NA 0.949241909605573 NA 0 NA FALSE NA NA NA NA NA NA WDR65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EBNA1BP2 NA NA NA ENSG00000117395 ENSE00003583248 NA NA NA NA NA NA NA 2.3767005478956e-06 FALSE NA ENSE00001080523_004 ENSE00001080523 004 1 43634575 43634744 - 35 90 45 T C 43634622 1661 123 GCCTCTTCCTGTTCCCTGCACACTTTTCTTCTCACCTTCTTCCCGTACTTCCTAAGTGCTCGCAGTTGCTTAGCTTTTTCAGACCTCTCCATGGCAGCCTGTTTAGTCTGCAGCTTCTGTCGAATCTACAACACAAAATGCTGTCAGTTCATGTCATTTGAATCTGGAAT 43168903 43169073 43168950 43168951 43168951 exon -13 0.866666666666667 ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAGTACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC mutant NA NA NA NA NA 34 85 1 1 1 NA NA 0.8992858915489 0.999197927662245 NA NA 0.1007141084511 0.000802072337754867 NA 0.949241909605573 NA 0.0507580903944275 NA FALSE NA 0.993 0.218 . upstream_gene_variant MODIFIER WDR65 HGNC 26485 ENST00000533339 1 NA ATT T,C 1.647e-05 1:43168951 EBNA1BP2 HGNC Symbol protein_coding 106761 ENSG00000117395 ENSE00003583248 synonymous_variant 0.601469 0.97157 0.90248 0.706548 0.725553553445427 0 2.3767005478956e-06 FALSE 1.21824e-05 ENSE00001080523_011 ENSE00001080523 011 1 43634575 43634744 - 35 90 45 G C 43634680 1668 65 GCCTCTTCCTGTTCCCTGCACACTTTTCTTCTCACCTTCTTCCCGTATTTCCTAAGTGCTCGCAGTTGCTTAGCTTTTTCAGACCTCTCCATGGCAGCCTGTTTACTCTGCAGCTTCTGTCGAATCTACAACACAAAATGCTGTCAGTTCATGTCATTTGAATCTGGAAT 43168903 43169073 43169008 43169009 43169009 exon 20 0.222222222222222 ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGAGTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC mutant NA NA NA NA NA 42 215 0.8 1 0.9 NA NA 0.8992858915489 0.999197927662245 NA NA -0.0992858915488999 0.000802072337754867 NA 0.949241909605573 NA -0.0492419096055725 NA FALSE NA 1 2.632 . upstream_gene_variant MODIFIER WDR65 HGNC 26485 ENST00000533339 1 NA AGT G,C 8.236e-06 1:43169009 EBNA1BP2 HGNC Symbol protein_coding 106761 ENSG00000117395 ENSE00003583248 missense_variant 1.594127 0.98216 0.96186 0.706548 0.755479267605201 0 2.3767005478956e-06 FALSE 8.12222e-06 ENSE00001080523_012 ENSE00001080523 012 1 43634575 43634744 - 35 90 45 C A 43634682 1669 63 GCCTCTTCCTGTTCCCTGCACACTTTTCTTCTCACCTTCTTCCCGTATTTCCTAAGTGCTCGCAGTTGCTTAGCTTTTTCAGACCTCTCCATGGCAGCCTGTTTAGTATGCAGCTTCTGTCGAATCTACAACACAAAATGCTGTCAGTTCATGTCATTTGAATCTGGAAT 43168903 43169073 43169010 43169011 43169011 exon 18 0.2 ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCATACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC mutant NA NA NA NA NA 120 108 1 1 1 NA NA 0.8992858915489 0.999197927662245 NA NA 0.1007141084511 0.000802072337754867 NA 0.949241909605573 NA 0.0507580903944275 NA FALSE NA 1 3.469 . upstream_gene_variant MODIFIER WDR65 HGNC 26485 ENST00000533339 1 NA TCT C,A 8.236e-06 1:43169011 EBNA1BP2 HGNC Symbol protein_coding 106761 ENSG00000117395 ENSE00003583248 missense_variant 2.996722 0.97499 0.97398 0.706548 0.997249131693901 0 2.3767005478956e-06 FALSE 4.06128e-06 ENSE00001080523_013 ENSE00001080523 013 1 43634575 43634744 - 35 90 45 C T 43634685 1670 60 GCCTCTTCCTGTTCCCTGCACACTTTTCTTCTCACCTTCTTCCCGTATTTCCTAAGTGCTCGCAGTTGCTTAGCTTTTTCAGACCTCTCCATGGCAGCCTGTTTAGTCTGTAGCTTCTGTCGAATCTACAACACAAAATGCTGTCAGTTCATGTCATTTGAATCTGGAAT 43168903 43169073 43169013 43169014 43169014 exon 15 0.166666666666667 ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTACAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC mutant NA NA NA NA NA 235 225 0.999824747837357 0.993302462876677 0.996563605357017 NA NA 0.8992858915489 0.999197927662245 NA NA 0.100538856288457 -0.00589546478556813 NA 0.949241909605573 NA 0.0473216957514443 NA FALSE NA 0.822 -0.066 . upstream_gene_variant MODIFIER WDR65 HGNC 26485 ENST00000533339 1 NA GCA C,T 8.236e-06 1:43169014 EBNA1BP2 HGNC Symbol protein_coding 106761 ENSG00000117395 ENSE00003583248 synonymous_variant 1.932427 0.96697 0.91973 0.706548 0.847766717907145 0 2.3767005478956e-06 FALSE 4.06134e-06 ENSE00001080523_017 ENSE00001080523 017 1 43634575 43634744 - 35 90 45 T C 43634723 1674 22 GCCTCTTCCTGTTCCCTGCACACTTTTCTTCTCACCTTCTTCCCGTATTTCCTAAGTGCTCGCAGTTGCTTAGCTTTTTCAGACCTCTCCATGGCAGCCTGTTTAGTCTGCAGCTTCTGTCGAATCTACAACACAAAATGCTGTCAGTCCATGTCATTTGAATCTGGAAT 43168903 43169073 43169051 43169052 43169052 upstr_intron -24 -0.511111111111111 ATTCCAGATTCAAATGACATGGACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC mutant NA NA NA NA NA 744 624 0.99725576039811 0.999746466942005 0.998501113670058 NA NA 0.8992858915489 0.999197927662245 NA NA 0.0979698688492106 0.000548539279760174 NA 0.949241909605573 NA 0.0492592040644854 NA FALSE NA 0.009 1.11 . upstream_gene_variant MODIFIER WDR65 HGNC 26485 ENST00000533339 1 NA TTC T,C 1.647e-05 1:43169052 EBNA1BP2 HGNC Symbol protein_coding 106761 ENSG00000117395 ENSE00003583248 intron_variant 1.179828 0.15403 0.04832 0.099367 0.747225638805003 0.0722057 2.3767005478956e-06 FALSE 8.13253e-06 ENSE00001080523_019 ENSE00001080523 019 1 43634575 43634744 - 35 90 45 T C 43634731 1676 14 GCCTCTTCCTGTTCCCTGCACACTTTTCTTCTCACCTTCTTCCCGTATTTCCTAAGTGCTCGCAGTTGCTTAGCTTTTTCAGACCTCTCCATGGCAGCCTGTTTAGTCTGCAGCTTCTGTCGAATCTACAACACAAAATGCTGTCAGTTCATGTCACTTGAATCTGGAAT 43168903 43169073 43169059 43169060 43169060 upstr_intron -32 -0.688888888888889 ATTCCAGATTCAAGTGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC ATTCCAGATTCAAATGACATGAACTGACAGCATTTTGTGTTGTAGATTCGACAGAAGCTGCAGACTAAACAGGCTGCCATGGAGAGGTCTGAAAAAGCTAAGCAACTGCGAGCACTTAGGAAATACGGGAAGAAGGTGAGAAGAAAAGTGTGCAGGGAACAGGAAGAGGC mutant NA NA NA NA NA 140 118 1 1 1 NA NA 0.8992858915489 0.999197927662245 NA NA 0.1007141084511 0.000802072337754867 NA 0.949241909605573 NA 0.0507580903944275 NA FALSE NA 0 0.007 . upstream_gene_variant MODIFIER WDR65 HGNC 26485 ENST00000533339 1 NA ATT T,C 8.237e-06 1:43169060 EBNA1BP2 HGNC Symbol protein_coding 106761 ENSG00000117395 ENSE00003583248 intron_variant 0.058223 0.14377 0.02193 0.099367 0.488414889773118 0.0722057 2.3767005478956e-06 FALSE 4.06967e-06 ENSE00001080536_000 ENSE00001080536 000 1 44169647 44169816 + 44 93 33 NA NA NA NA NA GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 NA NA NA NA NA NA GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC natural 68 93 0.996697110241169 0.988581168153614 0.992639139197391 2835 2473 0.986694920951088 0.98371145939155 0.985203190171319 0.996697110241169 0.988581168153614 0.986694920951088 0.98371145939155 0 0 0 0 0.992639139197391 0.985203190171319 0 0 0 FALSE FALSE NA NA NA NA NA KDM4A-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDM4A-AS1 NA NA NA ENSG00000236200 ENSE00001080536 NA NA NA NA NA NA NA NA NA NA ENSE00001080536_BRK ENSE00001080536 BRK 1 44169647 44169816 + 44 93 33 A,G; T,T NA NA NA GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTTTGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGCCGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 NA NA NA NA NA NA GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTTTGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGCCGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC control 67 33 0 0 0 NA NA NA NA NA 0.996697110241169 0.988581168153614 0.986694920951088 0.98371145939155 -0.996697110241169 -0.988581168153614 NA NA 0.992639139197391 0.985203190171319 -0.992639139197391 NA NA NA TRUE NA NA NA NA NA KDM4A-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDM4A-AS1 NA NA NA ENSG00000236200 ENSE00001080536 NA NA NA NA NA NA NA NA NA NA ENSE00001080753_000 ENSE00001080753 000 4 129809802 129809971 - 32 96 42 NA NA NA NA NA TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 NA NA NA NA NA NA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA natural 33 90 0.992895909357325 0.989429463530518 0.991162686443921 6329 10662 0.880537198529631 0.91773194231045 0.89913457042004 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 0 0 0 0 0.991162686443921 0.89913457042004 0 0 0 FALSE FALSE NA NA NA NA NA SCLT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCLT1 NA NA NA ENSG00000151466 ENSE00003595982 NA NA NA NA NA NA NA 5.17317913653687e-12 FALSE NA ENSE00001080753_001 ENSE00001080753 001 4 129809802 129809971 - 32 96 42 G C 129809813 1554 159 TTATTATCTAGCGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888657 128888658 128888658 downstr_intron 21 1.67741935483871 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCGCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 1338 1037 0.999823880791002 0.984388029956703 0.992105955373852 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.119286682261371 0.066656087646253 0.991162686443921 0.89913457042004 NA 0.092971384953812 NA FALSE NA 0 0.507 . intron_variant MODIFIER SCLT1 HGNC 26406 ENST00000503215 11/11 1 NA GGG G,C 8.236e-06 4:128888658 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 intron_variant -0.226131 0.18111 0.07031 0.106106 0.256242576545555 0.046323 5.17317913653687e-12 FALSE 4.22044e-06 ENSE00001080753_002 ENSE00001080753 002 4 129809802 129809971 - 32 96 42 G A 129809819 1555 153 TTATTATCTAGGGATAAAAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888663 128888664 128888664 downstr_intron 15 1.48387096774194 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTTTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 579 111 0.998374796556012 1 0.999187398278006 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.117837598026381 0.0822680576895501 0.991162686443921 0.89913457042004 NA 0.100052827857965 NA FALSE NA 0.259 0.993 . intron_variant MODIFIER SCLT1 HGNC 26406 ENST00000503215 11/11 1 NA AGA G,A 1.647e-05 4:128888664 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 intron_variant 0.645119 0.43157 0.19717 0.163922 0.7231616757779 0.187261 5.17317913653687e-12 FALSE 1.25231e-05 ENSE00001080753_003 ENSE00001080753 003 4 129809802 129809971 - 32 96 42 A G 129809823 1556 149 TTATTATCTAGGGATAAGAGGGTGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888667 128888668 128888668 downstr_intron 11 1.35483870967742 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCACCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 497 287 0.986615117139892 1 0.993307558569946 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.106077918610261 0.0822680576895501 0.991162686443921 0.89913457042004 NA 0.0941729881499056 NA FALSE NA 0 -0.632 . intron_variant MODIFIER SCLT1 HGNC 26406 ENST00000503215 11/11 1 NA GAT A,G 8.236e-06 4:128888668 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 intron_variant 0.767109 0.19542 0.03858 0.163922 0.823938856303812 0.131109 5.17317913653687e-12 FALSE 4.14611e-06 ENSE00001080753_005 ENSE00001080753 005 4 129809802 129809971 - 32 96 42 G A 129809844 1558 128 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAACTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888688 128888689 128888689 exon -11 0.895833333333333 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGTTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 197 341 1 1 1 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.119462801470369 0.0822680576895501 0.991162686443921 0.89913457042004 NA 0.10086542957996 NA FALSE NA 1 3.588 . missense_variant MODERATE SCLT1 HGNC 26406 ENST00000503215 11/12 rs559136001 1 deleterious(0.02) probably_damaging(0.998) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGC G,A 1.647e-05 4:128888689 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 missense_variant 5.422075 0.96757 0.85066 0.6512 0.998397325781484 0 5.17317913653687e-12 FALSE 2.44824e-05 ENSE00001080753_006 ENSE00001080753 006 4 129809802 129809971 - 32 96 42 C T 129809854 1559 118 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGTTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888698 128888699 128888699 exon -21 0.791666666666667 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAACTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 299 380 0.996790685379743 0.982106264591583 0.989448474985663 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.116253486850112 0.0643743222811333 0.991162686443921 0.89913457042004 NA 0.0903139045656224 NA FALSE NA 1 4.057 . missense_variant MODERATE SCLT1 HGNC 26406 ENST00000503215 11/12 1 tolerated(0.09) probably_damaging(0.993) NA GCT C,T 8.236e-06 4:128888699 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 missense_variant 7.203749 0.98364 0.89047 0.6512 0.998175853427745 0 5.17317913653687e-12 FALSE 4.07498e-06 ENSE00001080753_007 ENSE00001080753 007 4 129809802 129809971 - 32 96 42 C T 129809866 1560 106 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGTCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888710 128888711 128888711 exon -33 0.666666666666667 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGACAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 565 2208 0.999582673885456 1 0.999791336942728 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.119045475355825 0.0822680576895501 0.991162686443921 0.89913457042004 NA 0.100656766522688 NA FALSE NA 1 4.057 . missense_variant MODERATE SCLT1 HGNC 26406 ENST00000503215 11/12 1 tolerated(0.21) probably_damaging(0.998) NA GCC C,T 8.236e-06 4:128888711 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 missense_variant 5.638667 0.98364 0.89047 0.732398 0.998710064811233 0 5.17317913653687e-12 FALSE 1.2213e-05 ENSE00001080753_008 ENSE00001080753 008 4 129809802 129809971 - 32 96 42 C G 129809867 1561 105 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCGTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888711 128888712 128888712 exon -34 0.65625 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCACGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 442 420 0.996215119657498 1 0.998107559828749 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.115677921127867 0.0822680576895501 0.991162686443921 0.89913457042004 NA 0.0989729894087086 NA FALSE NA 1 0.794 . missense_variant MODERATE SCLT1 HGNC 26406 ENST00000503215 11/12 1 deleterious(0.01) probably_damaging(0.955) NA CCT C,G 8.236e-06 4:128888712 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 missense_variant 5.727196 0.9653 0.78565 0.732398 0.994346139205175 0 5.17317913653687e-12 FALSE NA ENSE00001080753_009 ENSE00001080753 009 4 129809802 129809971 - 32 96 42 T C 129809873 1562 99 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTCAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888717 128888718 128888718 exon -40 0.59375 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTGAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 238 1916 0.997200090625477 0.998209976306366 0.997705033465922 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.116662892095846 0.0804780339959164 0.991162686443921 0.89913457042004 NA 0.0985704630458813 NA FALSE NA 0.005 -1.253 . synonymous_variant LOW SCLT1 HGNC 26406 ENST00000503215 11/12 1 NA TTA T,C 8.236e-06 4:128888718 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 synonymous_variant 0.412039 0.08513 0.01242 0.732398 0.652525440504183 0 5.17317913653687e-12 FALSE 1.22032e-05 ENSE00001080753_010 ENSE00001080753 010 4 129809802 129809971 - 32 96 42 C T 129809877 1563 95 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGATGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888721 128888722 128888722 exon -44 0.552083333333333 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCATCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 527 169 1 1 1 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.119462801470369 0.0822680576895501 0.991162686443921 0.89913457042004 NA 0.10086542957996 NA FALSE NA 0.994 4.057 . missense_variant MODERATE SCLT1 HGNC 26406 ENST00000503215 11/12 rs532919376 1 deleterious(0.02) probably_damaging(0.996) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 3.295e-05 4:128888722 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 missense_variant 7.900924 0.98304 0.88814 0.732398 0.999136276754557 0 5.17317913653687e-12 FALSE 2.44091e-05 ENSE00001080753_011 ENSE00001080753 011 4 129809802 129809971 - 32 96 42 T G 129809881 1564 91 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCGTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888725 128888726 128888726 exon -48 0.510416666666667 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAACGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 585 971 0.996138165194844 1 0.998069082597422 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.115600966665213 0.0822680576895501 0.991162686443921 0.89913457042004 NA 0.0989345121773814 NA FALSE NA 0.997 2.62 . synonymous_variant LOW SCLT1 HGNC 26406 ENST00000503215 11/12 1 NA CTT T,G 8.236e-06 4:128888726 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 synonymous_variant 0.827153 0.98108 0.8335 0.732398 0.726619475749984 0 5.17317913653687e-12 FALSE 4.06848e-06 ENSE00001080753_012 ENSE00001080753 012 4 129809802 129809971 - 32 96 42 T C 129809882 1565 90 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTCTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888726 128888727 128888727 exon 48 0.5 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAGAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 432 934 0.999904698814595 0.99747511193165 0.998689905373123 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.119367500284964 0.0797431696212005 0.991162686443921 0.89913457042004 NA 0.0995553349530822 NA FALSE NA 0.984 -0.287 rs147272290 synonymous_variant LOW SCLT1 HGNC 26406 ENST00000503215 11/12 rs147272290 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTT T,C 0.0001812 4:128888727 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 synonymous_variant 0.262081 0.94675 0.34273 0.732398 0.605018506091372 0 5.17317913653687e-12 FALSE 0.000142393 ENSE00001080753_013 ENSE00001080753 013 4 129809802 129809971 - 32 96 42 G C 129809894 1566 78 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTCGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888738 128888739 128888739 exon 36 0.375 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCGAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 2035 251 0.948588046813999 0.999369388331028 0.973978717572513 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.0680508482843681 0.0816374460205778 0.991162686443921 0.89913457042004 NA 0.074844147152473 NA FALSE NA 1 0.602 . synonymous_variant LOW SCLT1 HGNC 26406 ENST00000503215 11/12 1 NA TGG G,C 8.236e-06 4:128888739 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 synonymous_variant 0.777952 0.963 0.74075 0.732398 0.688594913478013 0 5.17317913653687e-12 FALSE 4.07153e-06 ENSE00001080753_014 ENSE00001080753 014 4 129809802 129809971 - 32 96 42 T C 129809903 1567 69 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCCTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888747 128888748 128888748 exon 27 0.28125 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAGGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 961 213 0.99245813065544 0.995593322941266 0.994025726798353 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.111920932125809 0.0778613806308166 0.991162686443921 0.89913457042004 NA 0.0948911563783129 NA FALSE NA 1 1.283 . synonymous_variant LOW SCLT1 HGNC 26406 ENST00000503215 11/12 rs375967380 1 NA CTT T,C 1.647e-05 4:128888748 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 synonymous_variant -0.079051 0.95731 0.61246 0.732398 0.606119180349221 0 5.17317913653687e-12 FALSE 2.03656e-05 ENSE00001080753_015 ENSE00001080753 015 4 129809802 129809971 - 32 96 42 G C 129809905 1568 67 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTCATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888749 128888750 128888750 exon 25 0.260416666666667 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATGAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 1189 211 0.996987344512185 1 0.998493672256093 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.116450145982554 0.0822680576895501 0.991162686443921 0.89913457042004 NA 0.0993591018360521 NA FALSE NA 1 1.912 . missense_variant MODERATE SCLT1 HGNC 26406 ENST00000503215 11/12 rs201260499 1 deleterious(0.02) benign(0.343) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TGA G,C 1.647e-05 4:128888750 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 missense_variant 3.335707 0.97451 0.81893 0.732398 0.941241127860438 0 5.17317913653687e-12 FALSE 1.22183e-05 ENSE00001080753_016 ENSE00001080753 016 4 129809802 129809971 - 32 96 42 C T 129809921 1569 51 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGTTTTTCATTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888765 128888766 128888766 exon 9 0.09375 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAACTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 1466 1425 0.997878767352462 0.99695165087357 0.997415209113016 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.117341568822831 0.0792197085631197 0.991162686443921 0.89913457042004 NA 0.0982806386929752 NA FALSE NA 0.067 -0.379 . synonymous_variant LOW SCLT1 HGNC 26406 ENST00000503215 11/12 rs369966111 1 NA T:0 T:0.0001 GCT C,T 8.236e-06 4:128888766 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 synonymous_variant 1.902634 0.8155 0.04332 0.732398 0.673456141947105 0 5.17317913653687e-12 FALSE 4.08527e-06 ENSE00001080753_017 ENSE00001080753 017 4 129809802 129809971 - 32 96 42 T C 129809928 1570 44 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCACTCTATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 128888772 128888773 128888773 exon 2 0.0208333333333333 CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAGTGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 518 905 0.917559156058121 0.997640779539731 0.957599967798926 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.0370219575284904 0.0799088372292814 0.991162686443921 0.89913457042004 NA 0.0584653973788859 NA FALSE NA 1 2.709 . missense_variant&splice_region_variant MODERATE SCLT1 HGNC 26406 ENST00000503215 11/12 1 tolerated(0.73) benign(0.141) NA ATT T,C 8.236e-06 4:128888773 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 missense_variant 1.498648 0.9695 0.74591 0.732398 0.983263788391027 0 5.17317913653687e-12 FALSE 4.08884e-06 ENSE00001080753_018 ENSE00001080753 018 4 129809802 129809971 - 32 96 42 A G 129809950 1571 22 TTATTATCTAGGGATAAGAGGATGCTCCCTACCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTCTATTAAGGGGAAATAGAAAGCAAGTTAGAAATCCATATGTG 128888646 128888816 128888794 128888795 128888795 upstr_intron -21 -0.476190476190476 CACATATGGATTTCTAACTTGCTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA mutant NA NA NA NA NA 283 210 0.998389326574872 0.999454472032489 0.998921899303681 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 NA NA 0.117852128045241 0.0817225297220391 0.991162686443921 0.89913457042004 NA 0.0997873288836401 NA FALSE NA 0.971 2.77 . intron_variant MODIFIER SCLT1 HGNC 26406 ENST00000503215 10/11 1 NA AAC A,G 1.647e-05 4:128888795 SCLT1 HGNC Symbol protein_coding 228686 ENSG00000151466 ENSE00003595982 intron_variant 2.378463 0.5693 0.58956 0.088506 0.721801457911799 0.734362 5.17317913653687e-12 FALSE 1.70806e-05 ENSE00001080753_BRK ENSE00001080753 BRK 4 129809802 129809971 - 32 96 42 A,G; T,T NA NA NA TTATTATCTAGGGATAAGAGGATGCTCCCTGGCTGCTGGGAAGCTGAAGCAGCTCTCTCTTCTGCCTGACTTAGACGCCTTTGAAGTCTGTTGGCTTTTTCTTGATGCTCTAGAATTAGCTTTTCATTAAATTAAGGGGAAATAGAAAACAAGTTAGAAATCCATATGTG 128888646 128888816 NA NA NA NA NA NA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATTTAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGCCAGGGAGCATCCTCTTATCCCTAGATAATAA CACATATGGATTTCTAACTTGTTTTCTATTTCCCCTTAATAGAATGAAAAGCTAATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAGAGAGCTGCTTCAGCTTCCCAGCAGGTAGGGAGCATCCTCTTATCCCTAGATAATAA control 185 143 0 0.0137081273403571 0.00685406367017855 499 1227 0 0.0144517152748051 0.00722585763740256 0.992895909357325 0.989429463530518 0.880537198529631 0.91773194231045 -0.992895909357325 -0.975721336190161 -0.880537198529631 -0.903280227035645 0.991162686443921 0.89913457042004 -0.984308622773743 -0.891908712782638 0.0923999099911048 TRUE TRUE NA NA NA NA NA SCLT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCLT1 NA NA NA ENSG00000151466 ENSE00003595982 NA NA NA NA NA NA NA 5.17317913653687e-12 FALSE NA ENSE00001080859_000 ENSE00001080859 000 3 48266039 48266208 + 54 72 44 NA NA NA NA NA CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA 48224548 48224718 NA NA NA NA NA NA CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA natural NA NA NA NA NA 735 118 0.983431855490875 0.99967683183642 0.991554343663648 NA NA 0.983431855490875 0.99967683183642 NA NA 0 0 NA 0.991554343663648 NA 0 NA FALSE NA NA NA NA NA NA CAMP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMP NA NA NA ENSG00000164047 ENSE00001080859 NA NA NA NA NA NA NA 0.0896557021569683 FALSE NA ENSE00001080859_003 ENSE00001080859 003 3 48266039 48266208 + 54 72 44 C T 48266102 942 64 CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGTGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA 48224548 48224718 48224611 48224612 48224612 exon 10 0.138888888888889 CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGTGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA mutant NA NA NA NA NA 284 82 1 0.996122857564551 0.998061428782276 NA NA 0.983431855490875 0.99967683183642 NA NA 0.0165681445091246 -0.00355397427186888 NA 0.991554343663648 NA 0.00650708511862785 NA FALSE NA 0.009 -0.105 . missense_variant MODERATE CAMP HGNC 1472 ENST00000576243 3/4 1 benign(0.015) NA GCG C,T 8.236e-06 3:48224612 CAMP HGNC Symbol protein_coding 2144 ENSG00000164047 ENSE00001080859 missense_variant 2.732159 0.22506 0.02186 0.554377 0.923498940306895 0 0.0896557021569683 FALSE 2.43698e-05 ENSE00001080859_011 ENSE00001080859 011 3 48266039 48266208 + 54 72 44 G C 48266137 950 99 CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGCGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA 48224548 48224718 48224646 48224647 48224647 exon -28 0.625 CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGCGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA mutant NA NA NA NA NA 59 110 1 1 1 NA NA 0.983431855490875 0.99967683183642 NA NA 0.0165681445091246 0.000323168163579801 NA 0.991554343663648 NA 0.00844565633635219 NA FALSE NA 0 -2.785 . missense_variant MODERATE CAMP HGNC 1472 ENST00000576243 3/4 COSM4118161 1 benign(0.007) NA GGG G,C 8.236e-06 3:48224647 CAMP HGNC Symbol protein_coding 2144 ENSG00000164047 ENSE00001080859 missense_variant -1.667959 0.12427 0.01417 0.643511 0.381969925252537 0 0.0896557021569683 FALSE 4.06124e-06 ENSE00001080859_021 ENSE00001080859 021 3 48266039 48266208 + 54 72 44 C A 48266179 960 141 CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTATGGGATGCAGGGGCTGATGGGGGCATAGA 48224548 48224718 48224688 48224689 48224689 downstr_intron 15 1.34883720930233 CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTATGGGATGCAGGGGCTGATGGGGGCATAGA CTGGGAGGTCATGGCAAATGGTTTCAAGTTTGACCTTGAGCTTCTCCTTTCCAGCTGGTGAAGCGGTGTATGGGGACAGTGACCCTCAACCAGGCCAGGGGCTCCTTTGACATCAGTTGTGATAAGGTGAGTGGGCTGTTCTGGGATGCAGGGGCTGATGGGGGCATAGA mutant NA NA NA NA NA 148 32 1 0.995025234096825 0.997512617048413 NA NA 0.983431855490875 0.99967683183642 NA NA 0.0165681445091246 -0.00465159773959523 NA 0.991554343663648 NA 0.00595827338476468 NA FALSE NA 0 -0.145 NA NA NA CAMP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:48224689 CAMP HGNC Symbol protein_coding 2144 ENSG00000164047 ENSE00001080859 intron_variant 1.801223 0.2418 0.06208 0.074898 0.83330570447175 0.166921 0.0896557021569683 FALSE 4.06425e-06 ENSE00001081208_000 ENSE00001081208 000 3 51395141 51395310 + 48 84 38 NA NA NA NA NA TCACCTGGCTGCTGGTTCCCAAGCCCTCCAAGACATACCTGCTCCTGCATAAGCTCCTTGAGCTGGGTGATCTTCTCAGCATCTCCTGGGTGCTTGTTGATGTAATCTTTATCAAAGAAGGCCTGTGAAAGGAAAGGCCAAGTCAGGAAGACTCTTCCCAGGACTACTAC 51357709 51357879 NA NA NA NA NA NA GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAAGCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAAGCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA natural NA NA NA NA NA 2142 1618 0.996856252429153 0.891257888376714 0.944057070402933 NA NA 0.996856252429153 0.891257888376714 NA NA 0 0 NA 0.944057070402933 NA 0 NA FALSE NA NA NA NA NA NA DOCK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK3 NA NA NA ENSG00000088538 ENSE00001081208 NA NA NA NA NA NA NA 0.999999698562023 TRUE NA ENSE00001081208_005 ENSE00001081208 005 3 51395141 51395310 + 48 84 38 G C 51395198 1450 58 TCACCTGGCTGCTGGTTCCCAAGCCCTCCAAGACATACCTGCTCCTGCATAAGCTCCTTGAGCTGGGTGATCTTCTCAGCATCTCCTGGGTGCTTGTTGATGTAATCTTTATGAAAGAAGGCCTGTGAAAGGAAAGGCCAAGTCAGGAAGACTCTTCCCAGGACTACTAC 51357709 51357879 51357766 51357767 51357767 exon 10 0.119047619047619 GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTCATAAAGATTACATCAACAAGCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAAGCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA mutant NA NA NA NA NA 38 70 1 1 1 NA NA 0.996856252429153 0.891257888376714 NA NA 0.00314374757084712 0.108742111623286 NA 0.944057070402933 NA 0.0559429295970665 NA FALSE NA 1 9.873 . missense_variant MODERATE DOCK3 HGNC 2989 ENST00000266037 45/53 1 tolerated(0.12) probably_damaging(0.983) NA TGA G 8.274e-06 3:51357767 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001081208 missense_variant 6.780803 0.99531 0.99448 0.706298 0.99617535506831 0 0.999999698562023 TRUE 4.06659e-06 ENSE00001081208_009 ENSE00001081208 009 3 51395141 51395310 + 48 84 38 G C 51395218 1454 78 TCACCTGGCTGCTGGTTCCCAAGCCCTCCAAGACATACCTGCTCCTGCATAAGCTCCTTGAGCTGGGTGATCTTCTCAGCATCTCCTGGGTGGTTGTTGATGTAATCTTTATCAAAGAAGGCCTGTGAAAGGAAAGGCCAAGTCAGGAAGACTCTTCCCAGGACTACTAC 51357709 51357879 51357786 51357787 51357787 exon 30 0.357142857142857 GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAACCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAAGCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA mutant NA NA NA NA NA 1487 20 0.999278207822966 0.992008816475837 0.995643512149401 NA NA 0.996856252429153 0.891257888376714 NA NA 0.00242195539381285 0.100750928099123 NA 0.944057070402933 NA 0.0515864417464678 NA FALSE NA 1 0.771 . missense_variant MODERATE DOCK3 HGNC 2989 ENST00000266037 45/53 1 tolerated(0.61) benign(0.122) NA AGC G 8.273e-06 3:51357787 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001081208 missense_variant 1.623471 0.96778 0.81202 0.706298 0.975284413303018 0 0.999999698562023 TRUE 4.06603e-06 ENSE00001081208_010 ENSE00001081208 010 3 51395141 51395310 + 48 84 38 A C 51395224 1455 84 TCACCTGGCTGCTGGTTCCCAAGCCCTCCAAGACATACCTGCTCCTGCATAAGCTCCTTGAGCTGGGTGATCTTCTCAGCATCTCCGGGGTGCTTGTTGATGTAATCTTTATCAAAGAAGGCCTGTGAAAGGAAAGGCCAAGTCAGGAAGACTCTTCCCAGGACTACTAC 51357709 51357879 51357792 51357793 51357793 exon 36 0.428571428571429 GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAAGCACCCCGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAAGCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA mutant NA NA NA NA NA 69 102 1 0.965973546567923 0.982986773283961 NA NA 0.996856252429153 0.891257888376714 NA NA 0.00314374757084712 0.0747156581912087 NA 0.944057070402933 NA 0.0389297028810279 NA FALSE NA 0.105 -0.471 . synonymous_variant LOW DOCK3 HGNC 2989 ENST00000266037 45/53 1 NA CAG A 8.272e-06 3:51357793 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001081208 synonymous_variant 0.190647 0.96598 0.30052 0.706298 0.73529093424715 0 0.999999698562023 TRUE 4.06597e-06 ENSE00001081208_015 ENSE00001081208 015 3 51395141 51395310 + 48 84 38 T C 51395278 1460 138 TCACCTGGCTGCTGGTTCCCAAGCCCTCCAAGGCATACCTGCTCCTGCATAAGCTCCTTGAGCTGGGTGATCTTCTCAGCATCTCCTGGGTGCTTGTTGATGTAATCTTTATCAAAGAAGGCCTGTGAAAGGAAAGGCCAAGTCAGGAAGACTCTTCCCAGGACTACTAC 51357709 51357879 51357846 51357847 51357847 downstr_intron 6 1.16216216216216 GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAAGCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGCCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA GTAGTAGTCCTGGGAAGAGTCTTCCTGACTTGGCCTTTCCTTTCACAGGCCTTCTTTGATAAAGATTACATCAACAAGCACCCAGGAGATGCTGAGAAGATCACCCAGCTCAAGGAGCTTATGCAGGAGCAGGTATGTCTTGGAGGGCTTGGGAACCAGCAGCCAGGTGA mutant NA NA NA NA NA 124 186 0.983649184713754 0.997440530205608 0.990544857459681 NA NA 0.996856252429153 0.891257888376714 NA NA -0.013207067715399 0.106182641828894 NA 0.944057070402933 NA 0.0464877870567474 NA FALSE NA 0.037 -0.324 . splice_region_variant&intron_variant LOW DOCK3 HGNC 2989 ENST00000266037 45/52 1 NA GTC T 8.27e-06 3:51357847 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001081208 splice_region_variant 0.676557 0.35104 0.04794 0.065574 0.665709727223505 0.458897 0.999999698562023 TRUE 4.06451e-06 ENSE00001081225_000 ENSE00001081225 000 3 51393791 51393960 + 47 87 36 NA NA NA NA NA GTTGTGAAGCTCAGCTTCATCTGAGACATGTCTCACCAGTTCCCTCCTCTCCACTTCAAACCACCGAGAGATGCCAGGCAAGCTGTGGGTCAGGGTCAGTGTGGTACGTTCAATCCACAGGCTCTGTAGGGAGGGAACAGGCAGGTATGGGCAGTTAGGCAAGTTTTGCC 51356359 51356529 NA NA NA NA NA NA GGCAAAACTTGCCTAACTGCCCATACCTGCCTGTTCCCTCCCTACAGAGCCTGTGGATTGAACGTACCACACTGACCCTGACCCACAGCTTGCCTGGCATCTCTCGGTGGTTTGAAGTGGAGAGGAGGGAACTGGTGAGACATGTCTCAGATGAAGCTGAGCTTCACAAC GGCAAAACTTGCCTAACTGCCCATACCTGCCTGTTCCCTCCCTACAGAGCCTGTGGATTGAACGTACCACACTGACCCTGACCCACAGCTTGCCTGGCATCTCTCGGTGGTTTGAAGTGGAGAGGAGGGAACTGGTGAGACATGTCTCAGATGAAGCTGAGCTTCACAAC natural 19 61 0.926039872914466 0.825778350336054 0.87590911162526 1559 1323 0.984138872793305 0.788257692571449 0.886198282682377 0.926039872914466 0.825778350336054 0.984138872793305 0.788257692571449 0 0 0 0 0.87590911162526 0.886198282682377 0 0 0 FALSE FALSE NA NA NA NA NA DOCK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK3 NA NA NA ENSG00000088538 ENSE00001081225 NA NA NA NA NA NA NA 0.999999698562023 TRUE NA ENSE00001081225_021 ENSE00001081225 021 3 51393791 51393960 + 47 87 36 G A 51393946 1444 156 GTTGTGAAGCTCAGTTTCATCTGAGACATGTCTCACCAGTTCCCTCCTCTCCACTTCAAACCACCGAGAGATGCCAGGCAAGCTGTGGGTCAGGGTCAGTGTGGTACGTTCAATCCACAGGCTCTGTAGGGAGGGAACAGGCAGGTATGGGCAGTTAGGCAAGTTTTGCC 51356359 51356529 51356514 51356515 51356515 downstr_intron 22 1.62857142857143 GGCAAAACTTGCCTAACTGCCCATACCTGCCTGTTCCCTCCCTACAGAGCCTGTGGATTGAACGTACCACACTGACCCTGACCCACAGCTTGCCTGGCATCTCTCGGTGGTTTGAAGTGGAGAGGAGGGAACTGGTGAGACATGTCTCAGATGAAACTGAGCTTCACAAC GGCAAAACTTGCCTAACTGCCCATACCTGCCTGTTCCCTCCCTACAGAGCCTGTGGATTGAACGTACCACACTGACCCTGACCCACAGCTTGCCTGGCATCTCTCGGTGGTTTGAAGTGGAGAGGAGGGAACTGGTGAGACATGTCTCAGATGAAGCTGAGCTTCACAAC mutant NA NA NA NA NA 332 199 0.998377335452661 0.990105157104769 0.994241246278715 0.926039872914466 0.825778350336054 0.984138872793305 0.788257692571449 NA NA 0.0142384626593551 0.201847464533321 0.87590911162526 0.886198282682377 NA 0.108042963596338 NA FALSE NA 0 0.144 . intron_variant MODIFIER DOCK3 HGNC 2989 ENST00000266037 43/52 1 NA AGC G 8.271e-06 3:51356515 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001081225 intron_variant 2.306436 0.22397 0.09506 0.06567 0.826850308582353 0.142848 0.999999698562023 TRUE 8.21753e-06 ENSE00001081225_BRK ENSE00001081225 BRK 3 51393791 51393960 + 47 87 36 A,G; T,T NA NA NA GGCAAAACTTGCCTAACTGCCCATACCTGCCTGTTCCCTCCCTACTTAGCCTGTGGATTGAACGTACCACACTGACCCTGACCCACAGCTTGCCTGGCATCTCTCGGTGGTTTGAAGTGGAGAGGAGGGAACTGCCGAGACATGTCTCAGATGAAGCTGAGCTTCACAAC 51356359 51356529 NA NA NA NA NA NA GGCAAAACTTGCCTAACTGCCCATACCTGCCTGTTCCCTCCCTACTTAGCCTGTGGATTGAACGTACCACACTGACCCTGACCCACAGCTTGCCTGGCATCTCTCGGTGGTTTGAAGTGGAGAGGAGGGAACTGCCGAGACATGTCTCAGATGAAGCTGAGCTTCACAAC GGCAAAACTTGCCTAACTGCCCATACCTGCCTGTTCCCTCCCTACAGAGCCTGTGGATTGAACGTACCACACTGACCCTGACCCACAGCTTGCCTGGCATCTCTCGGTGGTTTGAAGTGGAGAGGAGGGAACTGGTGAGACATGTCTCAGATGAAGCTGAGCTTCACAAC control 90 77 0 0.034194087190965 0.0170970435954825 NA NA NA NA NA 0.926039872914466 0.825778350336054 0.984138872793305 0.788257692571449 -0.926039872914466 -0.791584263145089 NA NA 0.87590911162526 0.886198282682377 -0.858812068029777 NA NA NA TRUE NA NA NA NA NA DOCK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK3 NA NA NA ENSG00000088538 ENSE00001081225 NA NA NA NA NA NA NA 0.999999698562023 TRUE NA ENSE00001081287_000 ENSE00001081287 000 3 52159084 52159253 - 45 69 56 NA NA NA NA NA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA 52125067 52125237 NA NA NA NA NA NA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA natural 14 11 0.955602294869211 0.949782612873299 0.952692453871255 1064 1046 0.977827664361575 0.83793530571419 0.907881485037882 0.955602294869211 0.949782612873299 0.977827664361575 0.83793530571419 0 0 0 0 0.952692453871255 0.907881485037882 0 0 0 FALSE FALSE NA NA NA NA NA POC1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POC1A NA NA NA ENSG00000164087 ENSE00001081287 NA NA NA NA NA NA NA 1.1532167339453e-05 FALSE NA ENSE00001081287_001 ENSE00001081287 001 3 52159084 52159253 - 45 69 56 T C 52159097 1506 157 GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAGGAAGGGAATCTGA 52125067 52125237 52125080 52125081 52125081 downstr_intron 32 1.72727272727273 GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAGGAAGGGAATCTGA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA mutant NA NA NA NA NA 486 163 0.993836516214752 1 0.996918258107376 0.955602294869211 0.949782612873299 0.977827664361575 0.83793530571419 NA NA 0.0160088518531771 0.16206469428581 0.952692453871255 0.907881485037882 NA 0.0890367730694938 NA FALSE NA 0.002 -0.149 . intron_variant MODIFIER POC1A HGNC 24488 ENST00000394970 8/9 1 NA CTT T,C 2.471e-05 3:52125081 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081287 intron_variant 0.795953 0.16684 0.01207 0.162113 0.813228860271319 0.046323 1.1532167339453e-05 FALSE 1.22614e-05 ENSE00001081287_002 ENSE00001081287 002 3 52159084 52159253 - 45 69 56 C T 52159099 1507 155 GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTAAAGAAGGGAATCTGA 52125067 52125237 52125082 52125083 52125083 downstr_intron 30 1.68181818181818 GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTAAAGAAGGGAATCTGA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA mutant NA NA NA NA NA 10 243 1 1 1 0.955602294869211 0.949782612873299 0.977827664361575 0.83793530571419 NA NA 0.0221723356384249 0.16206469428581 0.952692453871255 0.907881485037882 NA 0.0921185149621176 NA FALSE NA 0 -0.738 . intron_variant MODIFIER POC1A HGNC 24488 ENST00000394970 8/9 rs543655069 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 TCA C,T 2.471e-05 3:52125083 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081287 intron_variant 0.869867 0.16127 0.00279 0.295142 0.850742971053886 0.046323 1.1532167339453e-05 FALSE 1.22521e-05 ENSE00001081287_010 ENSE00001081287 010 3 52159084 52159253 - 45 69 56 C T 52159159 1515 95 GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAATATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA 52125067 52125237 52125142 52125143 52125143 exon -31 0.565217391304348 GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAATATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA mutant NA NA NA NA NA 29 159 1 1 1 0.955602294869211 0.949782612873299 0.977827664361575 0.83793530571419 NA NA 0.0221723356384249 0.16206469428581 0.952692453871255 0.907881485037882 NA 0.0921185149621176 NA FALSE NA 0.861 -0.795 . synonymous_variant LOW POC1A HGNC 24488 ENST00000394970 8/10 1 NA ACT C,T 8.236e-06 3:52125143 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081287 synonymous_variant 2.181931 0.94232 0.15502 0.706298 0.538489421003342 0 1.1532167339453e-05 FALSE 4.06105e-06 ENSE00001081287_020 ENSE00001081287 020 3 52159084 52159253 - 45 69 56 C A 52159239 1525 15 GCATTTAGAATGGATAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA 52125067 52125237 52125222 52125223 52125223 upstr_intron -42 -0.732142857142857 GCATTTAGAATGGATAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA mutant NA NA NA NA NA 132 389 1 0.997009958505156 0.998504979252578 0.955602294869211 0.949782612873299 0.977827664361575 0.83793530571419 NA NA 0.0221723356384249 0.159074652790966 0.952692453871255 0.907881485037882 NA 0.0906234942146955 NA FALSE NA 0 -0.621 . intron_variant MODIFIER POC1A HGNC 24488 ENST00000394970 7/9 1 NA TCT C,A 8.237e-06 3:52125223 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081287 intron_variant 1.144722 0.17517 0.0397 0.062308 0.800318915765064 0.0945736 1.1532167339453e-05 FALSE 4.20002e-06 ENSE00001081287_BRK ENSE00001081287 BRK 3 52159084 52159253 - 45 69 56 A,G; T,T NA NA NA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCTTGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAACCAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA 52125067 52125237 NA NA NA NA NA NA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCTTGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAACCAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA GCATTTAGAATGGAGAATGACCTTTGATGTGTGTTATTTTTTGTTTGTTCTGCCAGGGACCAGCCACCACTGTTGCCTTTTCAAGAACGGGGGAGTATTTTGCTTCTGGAGGCTCTGATGAACAAGTAAGTAAAGAGTAGTCGAATGGAATGGTGAAGAAGGGAATCTGA control 22 14 0 0 0 NA NA NA NA NA 0.955602294869211 0.949782612873299 0.977827664361575 0.83793530571419 -0.955602294869211 -0.949782612873299 NA NA 0.952692453871255 0.907881485037882 -0.952692453871255 NA NA NA TRUE NA NA NA NA NA POC1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POC1A NA NA NA ENSG00000164087 ENSE00001081287 NA NA NA NA NA NA NA 1.1532167339453e-05 FALSE NA ENSE00001081292_000 ENSE00001081292 000 3 52156365 52156534 - 30 99 41 NA NA NA NA NA ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 NA NA NA NA NA NA ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT natural 15 12 0.997109377197243 1 0.998554688598622 1125 2041 0.885061376625034 0.98911174857111 0.937086562598072 0.997109377197243 1 0.885061376625034 0.98911174857111 0 0 0 0 0.998554688598622 0.937086562598072 0 0 0 FALSE FALSE NA NA NA NA NA POC1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POC1A NA NA NA ENSG00000164087 ENSE00001081292 NA NA NA NA NA NA NA 1.1532167339453e-05 FALSE NA ENSE00001081292_001 ENSE00001081292 001 3 52156365 52156534 - 30 99 41 A G 52156375 1486 160 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCACGTCCTGAGCT 52122348 52122518 52122358 52122359 52122359 downstr_intron 20 1.68965517241379 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCACGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 98 854 0.951847491430826 0.998691268186156 0.975269379808491 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA 0.0667861148057926 0.00957951961504655 0.998554688598622 0.937086562598072 NA 0.0381828172104196 NA FALSE NA 0 -1.61 . intron_variant MODIFIER POC1A HGNC 24488 ENST00000394970 9/9 1 NA CAT A,G 8.237e-06 3:52122359 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 intron_variant -0.205786 0.10014 0.02872 0 0.442548807611234 0.117105 1.1532167339453e-05 FALSE 4.08774e-06 ENSE00001081292_005 ENSE00001081292 005 3 52156365 52156534 - 30 99 41 C G 52156395 1490 140 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTCGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122378 52122379 52122379 exon -1 1 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTCGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 68 237 0 0 0 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA -0.885061376625034 -0.98911174857111 0.998554688598622 0.937086562598072 NA -0.937086562598072 NA TRUE NA 1 2.092 . splice_region_variant&synonymous_variant LOW POC1A HGNC 24488 ENST00000394970 9/10 COSM3408780 1 NA CCA C,G 8.236e-06 3:52122379 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 splice_region_variant 1.124605 0.96926 0.90687 0.706548 0.701587013156908 0 1.1532167339453e-05 FALSE 4.06521e-06 ENSE00001081292_006 ENSE00001081292 006 3 52156365 52156534 - 30 99 41 A G 52156396 1491 139 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCCGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122379 52122380 52122380 exon -2 0.98989898989899 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCCGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 63 50 1 1 1 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA 0.114938623374966 0.0108882514288901 0.998554688598622 0.937086562598072 NA 0.0629134374019282 NA FALSE NA 0.999 1.212 . missense_variant&splice_region_variant MODERATE POC1A HGNC 24488 ENST00000394970 9/10 rs539829904&COSM284123 1 deleterious(0.01) benign(0.004) NA CAG A,G 9.884e-05 3:52122380 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 missense_variant 1.888125 0.95399 0.81843 0.706548 0.981685002056426 0 1.1532167339453e-05 FALSE 0.000121943 ENSE00001081292_009 ENSE00001081292 009 3 52156365 52156534 - 30 99 41 T C 52156406 1494 129 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCGTGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122389 52122390 52122390 exon -12 0.888888888888889 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCGTGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 93 697 1 0.997953830378252 0.998976915189126 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA 0.114938623374966 0.00884208180714219 0.998554688598622 0.937086562598072 NA 0.0618903525910542 NA FALSE NA 0 -0.493 . missense_variant MODERATE POC1A HGNC 24488 ENST00000394970 9/10 rs568609712 1 tolerated(0.7) benign(0) NA ATG T,C 1.647e-05 3:52122390 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 missense_variant -1.531853 0.12074 0.00407 0.732398 0.227311954222085 0 1.1532167339453e-05 FALSE 1.21889e-05 ENSE00001081292_014 ENSE00001081292 014 3 52156365 52156534 - 30 99 41 G A 52156457 1499 78 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATTATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122440 52122441 52122441 exon 37 0.373737373737374 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATTATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 861 593 0.996703739582314 0.966861489100981 0.981782614341647 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA 0.11164236295728 -0.0222502594701292 0.998554688598622 0.937086562598072 NA 0.0446960517435757 NA FALSE NA 0.423 2.714 . missense_variant MODERATE POC1A HGNC 24488 ENST00000394970 9/10 1 tolerated(1) benign(0) NA TGA G,A 8.236e-06 3:52122441 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 missense_variant -0.54097 0.78938 0.01145 0.732398 0.22686104227123 0 1.1532167339453e-05 FALSE 4.06223e-06 ENSE00001081292_015 ENSE00001081292 015 3 52156365 52156534 - 30 99 41 A C 52156461 1500 74 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTGGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122444 52122445 52122445 exon 33 0.333333333333333 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTGGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 166 32 0.998753802835073 0.95 0.974376901417536 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA 0.113692426210039 -0.03911174857111 0.998554688598622 0.937086562598072 NA 0.0372903388194644 NA FALSE NA 0.001 0.017 rs115238307 synonymous_variant LOW POC1A HGNC 24488 ENST00000394970 9/10 rs115238307 1 C:0.0072 C:0.0257 C:0.0029 NA C:0 C:0 C:0 C:0.0281 C:0.0001 CAA A,C 0.002356 3:52122445 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 synonymous_variant -0.465634 0.20796 0.03655 0.732398 0.577162201671032 0 1.1532167339453e-05 FALSE 0.00175876 ENSE00001081292_016 ENSE00001081292 016 3 52156365 52156534 - 30 99 41 A G 52156472 1501 63 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACCTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122455 52122456 52122456 exon 22 0.222222222222222 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACCTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 305 320 0.991861487980916 1 0.995930743990458 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA 0.106800111355882 0.0108882514288901 0.998554688598622 0.937086562598072 NA 0.0588441813923861 NA FALSE NA 1 3.747 . missense_variant MODERATE POC1A HGNC 24488 ENST00000394970 9/10 1 tolerated(0.18) possibly_damaging(0.767) NA AAG A,G 8.236e-06 3:52122456 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 missense_variant 5.12099 0.97909 0.95636 0.732398 0.998461295053624 0 1.1532167339453e-05 FALSE 4.0623e-06 ENSE00001081292_017 ENSE00001081292 017 3 52156365 52156534 - 30 99 41 T C 52156474 1502 61 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAGCTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122457 52122458 52122458 exon 20 0.202020202020202 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAGCTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 43 405 0.95 0.985100576971015 0.967550288485508 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA 0.0649386233749663 -0.00401117160009479 0.998554688598622 0.937086562598072 NA 0.0304637258874357 NA FALSE NA 1 4.617 . missense_variant MODERATE POC1A HGNC 24488 ENST00000394970 9/10 1 deleterious(0) probably_damaging(0.947) NA GTT T,C 8.236e-06 3:52122458 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 missense_variant 5.467963 0.97807 0.9584 0.732398 0.998755003600984 0 1.1532167339453e-05 FALSE 1.21882e-05 ENSE00001081292_018 ENSE00001081292 018 3 52156365 52156534 - 30 99 41 T A 52156481 1503 54 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGTAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122464 52122465 52122465 exon 13 0.131313131313131 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGTAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 155 31 0 0.0165665077965752 0.0082832538982876 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA -0.885061376625034 -0.972545240774535 0.998554688598622 0.937086562598072 NA -0.928803308699784 NA TRUE NA 1 2.9 . stop_gained HIGH POC1A HGNC 24488 ENST00000394970 9/10 1 NA HC TTC T,A 8.236e-06 3:52122465 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 stop_gained 13.672553 0.97858 0.94178 0.732398 0.996319909002444 0 1.1532167339453e-05 FALSE 4.06379e-06 ENSE00001081292_020 ENSE00001081292 020 3 52156365 52156534 - 30 99 41 C T 52156494 1505 41 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAAGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT 52122348 52122518 52122477 52122478 52122478 upstr_intron -1 0 ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAAGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT ATTTTCTTCTCCTGACTTGGTGTGCCTGTTGGTTTTGGCAGGTGATGGTTTGGAAGAGTAACTTTGATATTGTTGATCATGGAGAAGTCACGAAAGTGCCGAGGCCCCCAGCCACACTGGCCAGCTCCATGGGGAATCTGGTAAGTGGCTTGGCAGGCATGTCCTGAGCT mutant NA NA NA NA NA 236 527 0.0407524220118849 0 0.0203762110059425 0.997109377197243 1 0.885061376625034 0.98911174857111 NA NA -0.844308954613149 -0.98911174857111 0.998554688598622 0.937086562598072 NA -0.916710351592129 NA TRUE NA 1 4.495 rs140125240 splice_acceptor_variant HIGH POC1A HGNC 24488 ENST00000394970 8/9 rs140125240 1 NA T:0.0002 T:0 HC CCT C,T 8.236e-06 3:52122478 POC1A HGNC Symbol protein_coding 79437 ENSG00000164087 ENSE00001081292 splice_acceptor_variant 5.506518 0.98093 0.95844 0 0.993312947300063 0.982916 1.1532167339453e-05 FALSE 4.06497e-06 ENSE00001081532_000 ENSE00001081532 000 4 122598998 122599167 - 51 57 62 NA NA NA NA NA TTTCTTCATTTCTACAGCATAATAAAGTCATCATATCCTGGTGTCACTCACCTGAGCATCTTGTTCAACTTGAGCTTCATCAATTCCAGCATCAGGGTCTCTGTTAGCCTATGAGAGGTAATATGTCACATTACTGAACTATAGAGCATTCTCATTCAAAAGGAAAAATG 121677842 121678012 NA NA NA NA NA NA CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA natural NA NA NA NA NA 2134 1397 0.878833895825689 0.995204496461433 0.937019196143561 NA NA 0.878833895825689 0.995204496461433 NA NA 0 0 NA 0.937019196143561 NA 0 NA FALSE NA NA NA NA NA NA ANXA5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA5 NA NA NA ENSG00000164111 ENSE00003528136 NA NA NA NA NA NA NA 3.81587630791735e-06 FALSE NA ENSE00001081532_002 ENSE00001081532 002 4 122598998 122599167 - 51 57 62 T C 122599031 1511 137 TTTCTTCATTTCTACAGCATAATAAAGTCATCACATCCTGGTGTCACTCACCTGAGCATCTTGTTCAACTTGAGCTTCATCAATTCCAGCATCAGGGTCTCTGTTAGCCTATGAGAGGTAATATGTCACATTACTGAACTATAGAGCATTCTCATTCAAAAGGAAAAATG 121677842 121678012 121677875 121677876 121677876 downstr_intron 18 1.36 CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATGTGATGACTTTATTATGCTGTAGAAATGAAGAAA CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA mutant NA NA NA NA NA 405 82 1 1 1 NA NA 0.878833895825689 0.995204496461433 NA NA 0.121166104174311 0.00479550353856728 NA 0.937019196143561 NA 0.0629808038564392 NA FALSE NA 0 -1.14 . intron_variant MODIFIER ANXA5 HGNC 543 ENST00000515017 5/9 1 NA ATA T,C 1.647e-05 4:121677876 ANXA5 HGNC Symbol protein_coding 29158 ENSG00000164111 ENSE00003528136 intron_variant -0.018542 0.14246 0.00953 0.322412 0.665708161908205 0.163367 3.81587630791735e-06 FALSE 1.6301e-05 ENSE00001081532_003 ENSE00001081532 003 4 122598998 122599167 - 51 57 62 G T 122599038 1512 130 TTTCTTCATTTCTACAGCATAATAAAGTCATCATATCCTGTTGTCACTCACCTGAGCATCTTGTTCAACTTGAGCTTCATCAATTCCAGCATCAGGGTCTCTGTTAGCCTATGAGAGGTAATATGTCACATTACTGAACTATAGAGCATTCTCATTCAAAAGGAAAAATG 121677842 121678012 121677882 121677883 121677883 downstr_intron 11 1.22 CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACAACAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA mutant NA NA NA NA NA 24 109 1 0.976049462101263 0.988024731050631 NA NA 0.878833895825689 0.995204496461433 NA NA 0.121166104174311 -0.01915503436017 NA 0.937019196143561 NA 0.0510055349070706 NA FALSE NA 0.019 1.465 . intron_variant MODIFIER ANXA5 HGNC 543 ENST00000515017 5/9 1 NA GGT G,T 8.236e-06 4:121677883 ANXA5 HGNC Symbol protein_coding 29158 ENSG00000164111 ENSE00003528136 intron_variant 0.201436 0.28476 0.27137 0.322412 0.608070659472497 0.160654 3.81587630791735e-06 FALSE 4.07123e-06 ENSE00001081532_011 ENSE00001081532 011 4 122598998 122599167 - 51 57 62 T G 122599082 1520 86 TTTCTTCATTTCTACAGCATAATAAAGTCATCATATCCTGGTGTCACTCACCTGAGCATCTTGTTCAACTTGAGCTTCATCAATGCCAGCATCAGGGTCTCTGTTAGCCTATGAGAGGTAATATGTCACATTACTGAACTATAGAGCATTCTCATTCAAAAGGAAAAATG 121677842 121678012 121677926 121677927 121677927 exon 24 0.421052631578947 CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGCATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA mutant NA NA NA NA NA 43 254 1 1 1 NA NA 0.878833895825689 0.995204496461433 NA NA 0.121166104174311 0.00479550353856728 NA 0.937019196143561 NA 0.0629808038564392 NA FALSE NA 0.013 1.148 . synonymous_variant LOW ANXA5 HGNC 543 ENST00000515017 5/10 1 NA TTC T,G 8.236e-06 4:121677927 ANXA5 HGNC Symbol protein_coding 29158 ENSG00000164111 ENSE00003528136 synonymous_variant 1.022784 0.26937 0.19074 0.732398 0.638484163479478 0 3.81587630791735e-06 FALSE 4.06706e-06 ENSE00001081532_014 ENSE00001081532 014 4 122598998 122599167 - 51 57 62 A G 122599118 1523 50 TTTCTTCATTTCTACAGCATAATAAAGTCATCATATCCTGGTGTCACTCACCTGAGCATCTTGTTCAACTTGAGCTTCATCAATTCCAGCATCAGGGTCTCTGTTAGCCTATGAGAGGTAGTATGTCACATTACTGAACTATAGAGCATTCTCATTCAAAAGGAAAAATG 121677842 121678012 121677962 121677963 121677963 upstr_intron -13 -0.193548387096774 CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATACTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA mutant NA NA NA NA NA 43 725 1 0.939844598981375 0.969922299490687 NA NA 0.878833895825689 0.995204496461433 NA NA 0.121166104174311 -0.0553598974800579 NA 0.937019196143561 NA 0.0329031033471266 NA FALSE NA 0.005 1.511 . intron_variant MODIFIER ANXA5 HGNC 543 ENST00000515017 4/9 1 NA AAT A,G 4.942e-05 4:121677963 ANXA5 HGNC Symbol protein_coding 29158 ENSG00000164111 ENSE00003528136 non_coding_transcript_exon_variant 1.344631 0.21391 0.13378 0.322412 0.836442556217957 0.318416 3.81587630791735e-06 FALSE 4.88926e-05 ENSE00001081532_019 ENSE00001081532 019 4 122598998 122599167 - 51 57 62 T C 122599146 1528 22 TTTCTTCATTTCTACAGCATAATAAAGTCATCATATCCTGGTGTCACTCACCTGAGCATCTTGTTCAACTTGAGCTTCATCAATTCCAGCATCAGGGTCTCTGTTAGCCTATGAGAGGTAATATGTCACATTACTGAACTATAGAGCACTCTCATTCAAAAGGAAAAATG 121677842 121678012 121677990 121677991 121677991 upstr_intron -41 -0.645161290322581 CATTTTTCCTTTTGAATGAGAGTGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA CATTTTTCCTTTTGAATGAGAATGCTCTATAGTTCAGTAATGTGACATATTACCTCTCATAGGCTAACAGAGACCCTGATGCTGGAATTGATGAAGCTCAAGTTGAACAAGATGCTCAGGTGAGTGACACCAGGATATGATGACTTTATTATGCTGTAGAAATGAAGAAA mutant NA NA NA NA NA 21 408 0.983189478226056 0.954007289289436 0.968598383757746 NA NA 0.878833895825689 0.995204496461433 NA NA 0.104355582400367 -0.0411972071719969 NA 0.937019196143561 NA 0.0315791876141849 NA FALSE NA 0 -0.516 . intron_variant MODIFIER ANXA5 HGNC 543 ENST00000515017 4/9 1 NA ATT T,C 1.647e-05 4:121677991 ANXA5 HGNC Symbol protein_coding 29158 ENSG00000164111 ENSE00003528136 non_coding_transcript_exon_variant 0.968225 0.16428 0.01501 0.163922 0.835906454730695 0.174139 3.81587630791735e-06 FALSE NA ENSE00001083060_000 ENSE00001083060 000 5 31424477 31424646 - 57 45 68 NA NA NA NA NA TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 NA NA NA NA NA NA TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT natural 69 229 0.825794711841088 0.885261070868429 0.855527891354758 4231 4616 0.890747258790904 0.842923410652289 0.866835334721596 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 0 0 0 0 0.855527891354758 0.866835334721596 0 0 0 FALSE FALSE NA NA NA NA NA DROSHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DROSHA NA NA NA ENSG00000113360 ENSE00003568687 NA NA NA NA NA NA NA 0.99639964840206 TRUE NA ENSE00001083060_001 ENSE00001083060 001 5 31424477 31424646 - 57 45 68 T C 31424488 311 159 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTGTTCATGTTACT 31424369 31424539 31424380 31424381 31424381 downstr_intron 46 1.82142857142857 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTGTTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 754 186 0.809362554729471 0.850915045679274 0.830138800204373 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.0813847040614325 0.00799163502698541 0.855527891354758 0.866835334721596 NA -0.0366965345172235 NA FALSE NA 0 -1.698 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 24/31 1 NA ATA T,C 8.302e-06 5:31424381 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 0.673615 0.15191 0.00772 0.156188 0.751614320158341 0.106771 0.99639964840206 TRUE 5.21823e-06 ENSE00001083060_002 ENSE00001083060 002 5 31424477 31424646 - 57 45 68 C T 31424491 312 156 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAACTATTCATGTTACT 31424369 31424539 31424383 31424384 31424384 downstr_intron 43 1.76785714285714 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAACTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 1573 292 0.814547445351319 0.910369228298039 0.862458336824679 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.0761998134395852 0.06744581764575 0.855527891354758 0.866835334721596 NA -0.00437699789691759 NA FALSE NA 0 0.347 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 24/31 1 NA GCT C,T 8.299e-06 5:31424384 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 0.437207 0.28196 0.17082 0.156188 0.663012343179541 0.106771 0.99639964840206 TRUE NA ENSE00001083060_003 ENSE00001083060 003 5 31424477 31424646 - 57 45 68 G C 31424494 313 153 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTGCAGCTATTCATGTTACT 31424369 31424539 31424386 31424387 31424387 downstr_intron 40 1.71428571428571 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTGCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 156 11 0.893578537491665 1 0.946789268745833 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA 0.00283127870076139 0.157076589347711 0.855527891354758 0.866835334721596 NA 0.0799539340242364 NA FALSE NA 0 0.175 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 24/31 rs369580657 1 NA C:0 C:0.0002 GGA G,C 1.66e-05 5:31424387 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 0.460575 0.37672 0.04104 0.156188 0.78356079015485 0.106771 0.99639964840206 TRUE 2.97852e-05 ENSE00001083060_004 ENSE00001083060 004 5 31424477 31424646 - 57 45 68 T C 31424498 314 149 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATGACTCCAGCTATTCATGTTACT 31424369 31424539 31424390 31424391 31424391 downstr_intron 36 1.64285714285714 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATGACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 336 809 0.791506778617664 0.895925735754575 0.84371625718612 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.0992404801732398 0.0530023251022865 0.855527891354758 0.866835334721596 NA -0.0231190775354767 NA FALSE NA 0 0.111 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 24/31 rs373030516 1 NA C:0 C:0.0002 TTA T,C 2.488e-05 5:31424391 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 0.427253 0.24135 0.18251 0.156188 0.582277718671633 0.106771 0.99639964840206 TRUE 3.38642e-05 ENSE00001083060_005 ENSE00001083060 005 5 31424477 31424646 - 57 45 68 T C 31424500 315 147 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTGTAACTCCAGCTATTCATGTTACT 31424369 31424539 31424392 31424393 31424393 downstr_intron 34 1.60714285714286 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTGTAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 669 1375 0.896357438214468 0.922070543264463 0.909213990739465 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA 0.00561017942356434 0.079147132612174 0.855527891354758 0.866835334721596 NA 0.0423786560178692 NA FALSE NA 0 0.032 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 24/31 rs561372899 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 ATA T,C 1.659e-05 5:31424393 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 0.835245 0.27016 0.19424 0.156188 0.731004155106546 0.106771 0.99639964840206 TRUE 9.59279e-06 ENSE00001083060_006 ENSE00001083060 006 5 31424477 31424646 - 57 45 68 G A 31424504 316 143 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGTTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424396 31424397 31424397 downstr_intron 30 1.53571428571429 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGTTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 847 194 0.870844622029967 0.908424723469889 0.889634672749928 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.0199026367609368 0.0655013128176005 0.855527891354758 0.866835334721596 NA 0.0227993380283318 NA FALSE NA 0.878 0.98 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 24/31 1 NA AGC G,A 4.146e-05 5:31424397 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 2.229514 0.3446 0.18848 0.156188 0.866169065541573 0.244428 0.99639964840206 TRUE 4.73507e-05 ENSE00001083060_007 ENSE00001083060 007 5 31424477 31424646 - 57 45 68 A G 31424521 317 126 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCCCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424413 31424414 31424414 downstr_intron 13 1.23214285714286 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCCCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 316 1056 0.916762957791215 0.906576389227868 0.911669673509541 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA 0.0260156990003114 0.0636529785755789 0.855527891354758 0.866835334721596 NA 0.0448343387879452 NA FALSE NA 0.862 0.01 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 24/31 rs530099898 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GAG A,G 1.658e-05 5:31424414 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 2.364525 0.91047 0.62123 0.295142 0.796561297479251 0.469882 0.99639964840206 TRUE NA ENSE00001083060_009 ENSE00001083060 009 5 31424477 31424646 - 57 45 68 T C 31424556 319 91 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAGTTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424448 31424449 31424449 exon -23 0.511111111111111 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAGTTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 318 488 0.87444925193573 0.951101909982862 0.912775580959296 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.0162980068551734 0.108178499330573 0.855527891354758 0.866835334721596 NA 0.0459402462376998 NA FALSE NA 1 6.705 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 24/32 COSM1067217 1 deleterious(0.02) benign(0.027) NA ATT T,C 2.487e-05 5:31424449 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 missense_variant 3.796059 0.99113 0.99085 0.732398 0.99568327618475 0 0.99639964840206 TRUE 1.35069e-05 ENSE00001083060_010 ENSE00001083060 010 5 31424477 31424646 - 57 45 68 C T 31424569 320 78 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCAAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424461 31424462 31424462 exon 10 0.222222222222222 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCAAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 35 726 0.0226256457920538 0.0136116336079624 0.0181186397000081 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.86812161299885 -0.829311777044326 0.855527891354758 0.866835334721596 NA -0.848716695021588 NA TRUE NA 1 6.525 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 24/32 1 tolerated(0.67) benign(0.011) NA TCG C,T 8.295e-06 5:31424462 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 missense_variant 3.74526 0.9931 0.99112 0.732398 0.993107812655146 0 0.99639964840206 TRUE NA ENSE00001083060_011 ENSE00001083060 011 5 31424477 31424646 - 57 45 68 G A 31424570 321 77 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGTGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424462 31424463 31424463 exon 9 0.2 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGTGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 1221 1157 0.841072233592655 0.836743926985635 0.838908080289145 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.0496750251982492 -0.00617948366665377 0.855527891354758 0.866835334721596 NA -0.0279272544324515 NA FALSE NA 0.014 -1.09 . synonymous_variant LOW DROSHA HGNC 17904 ENST00000442743 24/32 1 NA CGC G,A 8.295e-06 5:31424463 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 synonymous_variant 1.568997 0.33599 0.05538 0.732398 0.542989151760612 0 0.99639964840206 TRUE NA ENSE00001083060_012 ENSE00001083060 012 5 31424477 31424646 - 57 45 68 G A 31424572 322 75 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGTGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424464 31424465 31424465 exon 7 0.155555555555556 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGTGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 452 791 0.801425038756516 0.856322140184813 0.828873589470665 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.0893222200343874 0.0133987295325243 0.855527891354758 0.866835334721596 NA -0.0379617452509315 NA FALSE NA 1 5.193 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 24/32 rs376727217&COSM274875 1 tolerated(0.17) possibly_damaging(0.608) NA A:0 A:0.0002 CGC G,A 1.659e-05 5:31424465 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 missense_variant 5.924912 0.97867 0.97533 0.732398 0.999040265538089 0 0.99639964840206 TRUE NA ENSE00001083060_013 ENSE00001083060 013 5 31424477 31424646 - 57 45 68 T C 31424604 323 43 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCGTTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424496 31424497 31424497 upstr_intron -26 -0.367647058823529 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCGTTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 148 2720 0.880894970901512 0.883962879973193 0.882428925437353 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.00985228788939196 0.0410394693209047 0.855527891354758 0.866835334721596 NA 0.0155935907157564 NA FALSE NA 1 5.087 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 23/31 rs370032474 1 NA C:0 C:0.0001 ATG T,C 3.336e-05 5:31424497 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 2.507713 0.96962 0.95704 0.106106 0.660161424633729 0.851618 0.99639964840206 TRUE 2.08416e-05 ENSE00001083060_014 ENSE00001083060 014 5 31424477 31424646 - 57 45 68 C T 31424606 324 41 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAACATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424498 31424499 31424499 upstr_intron -28 -0.397058823529412 TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAACATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 241 232 0.996533898367345 0.973917003261515 0.98522545081443 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA 0.105786639576441 0.130993592609227 0.855527891354758 0.866835334721596 NA 0.118390116092834 NA FALSE NA 1 3.364 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 23/31 rs373877090 1 NA T:0 T:0.0001 GCT C,T 9.186e-05 5:31424499 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 2.765202 0.96713 0.90727 0.106106 0.776586096956281 0.895682 0.99639964840206 TRUE 8.51716e-05 ENSE00001083060_016 ENSE00001083060 016 5 31424477 31424646 - 57 45 68 C A 31424624 326 23 TTTATTTAGTACTCTAGAGTGCTTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424516 31424517 31424517 upstr_intron -46 -0.661764705882353 TTTATTTAGTACTCTAGAGTGCTTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 253 195 0.80508325103985 0.88939529235961 0.84723927169973 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.085664007751054 0.046471881707321 0.855527891354758 0.866835334721596 NA -0.0195960630218665 NA FALSE NA 1 1.451 NA NA NA DROSHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:31424517 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 1.869929 0.96965 0.74163 0.106106 0.678880947937918 0.907133 0.99639964840206 TRUE 5.91324e-06 ENSE00001083060_017 ENSE00001083060 017 5 31424477 31424646 - 57 45 68 G A 31424625 327 22 TTTATTTAGTACTCTAGAGTGTGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 31424517 31424518 31424518 upstr_intron -47 -0.676470588235294 TTTATTTAGTACTCTAGAGTGTGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT mutant NA NA NA NA NA 281 1383 0.79359112177359 0.799049710784504 0.796320416279047 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 NA NA -0.0971561370173142 -0.0438736998677849 0.855527891354758 0.866835334721596 NA -0.0705149184425495 NA FALSE NA 1 3.542 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 23/31 rs569922833 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGC G,A 0.0001694 5:31424518 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00003568687 intron_variant 1.565578 0.93234 0.02568 0.106106 0.756377691738951 0.463368 0.99639964840206 TRUE 0.000287842 ENSE00001083060_BRK ENSE00001083060 BRK 5 31424477 31424646 - 57 45 68 A,G; T,T NA NA NA TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCTTGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAACCAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT 31424369 31424539 NA NA NA NA NA NA TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCTTGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAACCAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT TTTATTTAGTACTCTAGAGTGCGTTAAATGGCTCCCTTGAGCATTAAAGGCATCACTCCATTTTCCAGGACCTGCGCGAAGTCTGGCTCAATTATCCTCTCCACCCACTCCAAGTAAGTATGACCTCCCTGTCTGCAGTGAGCTTTATAACTCCAGCTATTCATGTTACT control 296 51 0 0 0 NA NA NA NA NA 0.825794711841088 0.885261070868429 0.890747258790904 0.842923410652289 -0.825794711841088 -0.885261070868429 NA NA 0.855527891354758 0.866835334721596 -0.855527891354758 NA NA NA TRUE NA NA NA NA NA DROSHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DROSHA NA NA NA ENSG00000113360 ENSE00003568687 NA NA NA NA NA NA NA 0.99639964840206 TRUE NA ENSE00001083325_000 ENSE00001083325 000 6 21198204 21198373 + 48 84 38 NA NA NA NA NA GGTGTTTACCCTTATCTTTCCTTTCTTTCCCTCCCCTTCTCTCCACAGATTGGTGAAAGACAACAAGTGTTAGTAACAGAAGAATCTTTTGATTCCAAGTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCAGTATTCTTGAGTTTTCTCCAAAG 21197972 21198142 NA NA NA NA NA NA GGTGTTTACCCTTATCTTTCCTTTCTTTCCCTCCCCTTCTCTCCACAGATTGGTGAAAGACAACAAGTGTTAGTAACAGAAGAATCTTTTGATTCCAAGTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCAGTATTCTTGAGTTTTCTCCAAAG GGTGTTTACCCTTATCTTTCCTTTCTTTCCCTCCCCTTCTCTCCACAGATTGGTGAAAGACAACAAGTGTTAGTAACAGAAGAATCTTTTGATTCCAAGTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCAGTATTCTTGAGTTTTCTCCAAAG natural NA NA NA NA NA 1595 610 0.928571539833493 0.929172321545306 0.928871930689399 NA NA 0.928571539833493 0.929172321545306 NA NA 0 0 NA 0.928871930689399 NA 0 NA FALSE NA NA NA NA NA NA CDKAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDKAL1 NA NA NA ENSG00000145996 ENSE00001083325 NA NA NA NA NA NA NA 0.577650480843115 FALSE NA ENSE00001083325_021 ENSE00001083325 021 6 21198204 21198373 + 48 84 38 A G 21198350 259 147 GGTGTTTACCCTTATCTTTCCTTTCTTTCCCTCCCCTTCTCTCCACAGATTGGTGAAAGACAACAAGTGTTAGTAACAGAAGAATCTTTTGATTCCAAGTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCGGTATTCTTGAGTTTTCTCCAAAG 21197972 21198142 21198118 21198119 21198119 downstr_intron 15 1.40540540540541 GGTGTTTACCCTTATCTTTCCTTTCTTTCCCTCCCCTTCTCTCCACAGATTGGTGAAAGACAACAAGTGTTAGTAACAGAAGAATCTTTTGATTCCAAGTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCGGTATTCTTGAGTTTTCTCCAAAG GGTGTTTACCCTTATCTTTCCTTTCTTTCCCTCCCCTTCTCTCCACAGATTGGTGAAAGACAACAAGTGTTAGTAACAGAAGAATCTTTTGATTCCAAGTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCAGTATTCTTGAGTTTTCTCCAAAG mutant NA NA NA NA NA 75 42 0.996094535420037 1 0.998047267710018 NA NA 0.928571539833493 0.929172321545306 NA NA 0.067522995586544 0.0708276784546944 NA 0.928871930689399 NA 0.0691753370206192 NA FALSE NA 0 -3.117 . intron_variant MODIFIER CDKAL1 HGNC 21050 ENST00000274695 14/15 1 NA CAG A,G 8.237e-06 6:21198119 CDKAL1 HGNC Symbol protein_coding 697947 ENSG00000145996 ENSE00001083325 intron_variant 0.06947 0.16803 0.04838 0.086534 0.639348786806555 0.100017 0.577650480843115 FALSE 9.40353e-06 ENSE00001084069_000 ENSE00001084069 000 5 131534519 131534688 - 53 54 63 NA NA NA NA NA GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 NA NA NA NA NA NA GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG natural NA NA NA NA NA 377 1870 0.995436638184131 0.994619055130303 0.995027846657217 NA NA 0.995436638184131 0.994619055130303 NA NA 0 0 NA 0.995027846657217 NA 0 NA FALSE NA NA NA NA NA NA P4HA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P4HA2 NA NA NA ENSG00000072682 ENSE00001084069 NA NA NA NA NA NA NA 6.46128411074688e-05 FALSE NA ENSE00001084069_001 ENSE00001084069 001 5 131534519 131534688 - 53 54 63 C T 131534529 1221 160 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAACTGATTTGAG 132198825 132198995 132198835 132198836 132198836 downstr_intron 43 1.82692307692308 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAACTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 34 48 1 1 1 NA NA 0.995436638184131 0.994619055130303 NA NA 0.00456336181586869 0.00538094486969731 NA 0.995027846657217 NA 0.004972153342783 NA FALSE NA 0 -0.791 . intron_variant MODIFIER P4HA2 HGNC 8547 ENST00000379104 11/14 rs199722596 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 GCT C,T 0.0001235 5:132198836 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 intron_variant 0.790903 0.2001 0.02268 0.164513 0.74381745758541 0.170544 6.46128411074688e-05 FALSE 7.73276e-05 ENSE00001084069_002 ENSE00001084069 002 5 131534519 131534688 - 53 54 63 G A 131534538 1222 151 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCTCTGCTCTAGCTGATTTGAG 132198825 132198995 132198844 132198845 132198845 downstr_intron 34 1.65384615384615 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCTCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 73 30 0.989389720032018 0.95 0.969694860016009 NA NA 0.995436638184131 0.994619055130303 NA NA -0.00604691815211345 -0.0446190551303026 NA 0.995027846657217 NA -0.025332986641208 NA FALSE NA 0 0.218 . intron_variant MODIFIER P4HA2 HGNC 8547 ENST00000379104 11/14 1 NA GGG G,A 8.236e-06 5:132198845 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 intron_variant 0.330188 0.17502 0.10413 0.164513 0.57096986364463 0.168993 6.46128411074688e-05 FALSE 4.06474e-06 ENSE00001084069_003 ENSE00001084069 003 5 131534519 131534688 - 53 54 63 C T 131534542 1223 147 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAAGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198848 132198849 132198849 downstr_intron 30 1.57692307692308 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAAGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 116 22 1 1 1 NA NA 0.995436638184131 0.994619055130303 NA NA 0.00456336181586869 0.00538094486969731 NA 0.995027846657217 NA 0.004972153342783 NA FALSE NA 0 0.258 . intron_variant MODIFIER P4HA2 HGNC 8547 ENST00000379104 11/14 rs199671171 1 NA CCT C,T 4.942e-05 5:132198849 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 intron_variant 0.372717 0.20182 0.03313 0.099367 0.623557534331707 0.108936 6.46128411074688e-05 FALSE 5.69018e-05 ENSE00001084069_006 ENSE00001084069 006 5 131534519 131534688 - 53 54 63 G A 131534565 1226 124 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGTCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198871 132198872 132198872 downstr_intron 7 1.13461538461538 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGTCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 520 109 1 0.998546277446158 0.999273138723079 NA NA 0.995436638184131 0.994619055130303 NA NA 0.00456336181586869 0.00392722231585541 NA 0.995027846657217 NA 0.00424529206586205 NA FALSE NA 0 -0.069 . splice_region_variant&intron_variant LOW P4HA2 HGNC 8547 ENST00000379104 11/14 1 NA GGC G,A 8.236e-06 5:132198872 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 splice_region_variant 0.78185 0.31075 0.06181 0.164513 0.690338003317417 0.119848 6.46128411074688e-05 FALSE 8.1242e-06 ENSE00001084069_007 ENSE00001084069 007 5 131534519 131534688 - 53 54 63 T C 131534574 1227 115 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTGGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198880 132198881 132198881 exon -3 0.962962962962963 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTGGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 213 46 0.993444440320031 1 0.996722220160016 NA NA 0.995436638184131 0.994619055130303 NA NA -0.00199219786410021 0.00538094486969731 NA 0.995027846657217 NA 0.00169437350279855 NA FALSE NA 0.987 2.549 . missense_variant&splice_region_variant MODERATE P4HA2 HGNC 8547 ENST00000379104 11/15 rs199783184 1 deleterious(0) probably_damaging(0.999) NA CTA T,C 8.236e-06 5:132198881 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 missense_variant 5.933524 0.97629 0.96198 0.706548 0.998457131519117 0 6.46128411074688e-05 FALSE 8.12242e-06 ENSE00001084069_011 ENSE00001084069 011 5 131534519 131534688 - 53 54 63 G A 131534591 1231 98 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACTGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198897 132198898 132198898 exon -20 0.648148148148148 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACTGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 19 265 0.95 1 0.975 NA NA 0.995436638184131 0.994619055130303 NA NA -0.0454366381841314 0.00538094486969731 NA 0.995027846657217 NA -0.020027846657217 NA FALSE NA 1 9.477 . missense_variant MODERATE P4HA2 HGNC 8547 ENST00000379104 11/15 rs375706681 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0001 CGG G,A 2.471e-05 5:132198898 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 missense_variant 6.559126 0.99532 0.99578 0.706548 0.998798971698679 0 6.46128411074688e-05 FALSE 2.43663e-05 ENSE00001084069_012 ENSE00001084069 012 5 131534519 131534688 - 53 54 63 C T 131534603 1232 86 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGAACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198909 132198910 132198910 exon 23 0.425925925925926 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGAACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 391 221 0.992560628382703 1 0.996280314191351 NA NA 0.995436638184131 0.994619055130303 NA NA -0.00287600980142855 0.00538094486969731 NA 0.995027846657217 NA 0.00125246753413438 NA FALSE NA 1 7.487 . missense_variant MODERATE P4HA2 HGNC 8547 ENST00000379104 11/15 rs199765721 1 deleterious(0) probably_damaging(1) NA TCC C,T 8.236e-06 5:132198910 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 missense_variant 6.271083 0.99522 0.99332 0.706548 0.997316712425175 0 6.46128411074688e-05 FALSE 1.62441e-05 ENSE00001084069_013 ENSE00001084069 013 5 131534519 131534688 - 53 54 63 C T 131534608 1233 81 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTAGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198914 132198915 132198915 exon 18 0.333333333333333 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTAGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 345 97 0.994174508875123 1 0.997087254437561 NA NA 0.995436638184131 0.994619055130303 NA NA -0.00126212930900849 0.00538094486969731 NA 0.995027846657217 NA 0.00205940778034441 NA FALSE NA 1 0.826 . synonymous_variant LOW P4HA2 HGNC 8547 ENST00000379104 11/15 1 NA CCA C,T 8.236e-06 5:132198915 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 synonymous_variant 0.987419 0.98154 0.91708 0.706548 0.658170305728418 0 6.46128411074688e-05 FALSE 4.06098e-06 ENSE00001084069_014 ENSE00001084069 014 5 131534519 131534688 - 53 54 63 T G 131534611 1234 78 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGCGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198917 132198918 132198918 exon 15 0.277777777777778 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGCGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 46 647 1 0.993777616620464 0.996888808310232 NA NA 0.995436638184131 0.994619055130303 NA NA 0.00456336181586869 -0.000841438509838754 NA 0.995027846657217 NA 0.00186096165301497 NA FALSE NA 0.656 -0.446 . synonymous_variant LOW P4HA2 HGNC 8547 ENST00000379104 11/15 1 NA CTC T,G 8.236e-06 5:132198918 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 synonymous_variant -0.066992 0.96473 0.53529 0.706548 0.599182466556417 0 6.46128411074688e-05 FALSE 4.06101e-06 ENSE00001084069_016 ENSE00001084069 016 5 131534519 131534688 - 53 54 63 C T 131534625 1236 64 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGATTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198931 132198932 132198932 exon 1 0.0185185185185185 GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGATTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 204 724 0.989312205127738 0.995680844998518 0.992496525063128 NA NA 0.995436638184131 0.994619055130303 NA NA -0.00612443305639321 0.00106178986821537 NA 0.995027846657217 NA -0.00253132159408892 NA FALSE NA 1 7.487 NA NA NA P4HA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:132198932 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 missense_variant 2.99633 0.99522 0.99332 0.706548 0.997091829359375 0 6.46128411074688e-05 FALSE 8.12249e-06 ENSE00001084069_019 ENSE00001084069 019 5 131534519 131534688 - 53 54 63 C T 131534661 1239 28 GTGATTGGCTGCTACAGAGCTGTTCATACTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 132198967 132198968 132198968 upstr_intron -36 -0.555555555555556 GTGATTGGCTGCTACAGAGCTGTTCATACTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG mutant NA NA NA NA NA 342 35 1 1 1 NA NA 0.995436638184131 0.994619055130303 NA NA 0.00456336181586869 0.00538094486969731 NA 0.995027846657217 NA 0.004972153342783 NA FALSE NA 0 -0.881 . intron_variant MODIFIER P4HA2 HGNC 8547 ENST00000379104 10/14 1 NA GCA C,T 8.237e-06 5:132198968 P4HA2 HGNC Symbol protein_coding 103477 ENSG00000072682 ENSE00001084069 intron_variant 1.32352 0.23695 0.04107 0.099367 0.814212730260716 0.0968874 6.46128411074688e-05 FALSE 4.07299e-06 ENSE00001084069_BRK ENSE00001084069 BRK 5 131534519 131534688 - 53 54 63 A,G; T,T NA NA NA GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACTTGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGCCAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG 132198825 132198995 NA NA NA NA NA NA GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACTTGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGCCAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG GTGATTGGCTGCTACAGAGCTGTTCATGCTGCTTACAAGGTCTAATGCTGTTATTTCCCACAGGTTGCAAATTATGGAGTGGGAGGACAGTATGAACCGCACTTCGACTTCTCTAGGGTAAGGCCTAAATCACAGGTGCTTTCAAAGGGCCCTGCTCTAGCTGATTTGAG control NA NA NA NA NA 841 91 0.0655984788608825 0 0.0327992394304412 NA NA 0.995436638184131 0.994619055130303 NA NA -0.929838159323249 -0.994619055130303 NA 0.995027846657217 NA -0.962228607226776 NA TRUE NA NA NA NA NA NA P4HA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P4HA2 NA NA NA ENSG00000072682 ENSE00001084069 NA NA NA NA NA NA NA 6.46128411074688e-05 FALSE NA ENSE00001084075_000 ENSE00001084075 000 5 131531060 131531229 - 45 69 56 NA NA NA NA NA CAATTGCTCTGAGAGCCTTGGGTAGGAGGGTCAAGCTCTATGTCTTATATTTCCAGATGAGTGATGTAGAAGCTGGTGGTGCCACCGTCTTCCCTGATCTGGGGGCTGCAATTTGGCCTAAGAAGGTAAGTTCTGATTCTTGTGGGTCAGAGGTTGAAGCAAGGCTCAGA 132195366 132195536 NA NA NA NA NA NA CAATTGCTCTGAGAGCCTTGGGTAGGAGGGTCAAGCTCTATGTCTTATATTTCCAGATGAGTGATGTAGAAGCTGGTGGTGCCACCGTCTTCCCTGATCTGGGGGCTGCAATTTGGCCTAAGAAGGTAAGTTCTGATTCTTGTGGGTCAGAGGTTGAAGCAAGGCTCAGA CAATTGCTCTGAGAGCCTTGGGTAGGAGGGTCAAGCTCTATGTCTTATATTTCCAGATGAGTGATGTAGAAGCTGGTGGTGCCACCGTCTTCCCTGATCTGGGGGCTGCAATTTGGCCTAAGAAGGTAAGTTCTGATTCTTGTGGGTCAGAGGTTGAAGCAAGGCTCAGA natural 101 179 0.890818709011566 0.85 0.870409354505783 3122 967 0.948702096043073 0.935580201094442 0.942141148568757 0.890818709011566 0.85 0.948702096043073 0.935580201094442 0 0 0 0 0.870409354505783 0.942141148568757 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001084075 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001084075_BRK ENSE00001084075 BRK 5 131531060 131531229 - 45 69 56 A,G; T,T NA NA NA CAATTGCTCTGAGAGCCTTGGGTAGGAGGGTCAAGCTCTATGTCTTATATTTCCTTATGAGTGATGTAGAAGCTGGTGGTGCCACCGTCTTCCCTGATCTGGGGGCTGCAATTTGGCCTAAGAAGCCAAGTTCTGATTCTTGTGGGTCAGAGGTTGAAGCAAGGCTCAGA 132195366 132195536 NA NA NA NA NA NA CAATTGCTCTGAGAGCCTTGGGTAGGAGGGTCAAGCTCTATGTCTTATATTTCCTTATGAGTGATGTAGAAGCTGGTGGTGCCACCGTCTTCCCTGATCTGGGGGCTGCAATTTGGCCTAAGAAGCCAAGTTCTGATTCTTGTGGGTCAGAGGTTGAAGCAAGGCTCAGA CAATTGCTCTGAGAGCCTTGGGTAGGAGGGTCAAGCTCTATGTCTTATATTTCCAGATGAGTGATGTAGAAGCTGGTGGTGCCACCGTCTTCCCTGATCTGGGGGCTGCAATTTGGCCTAAGAAGGTAAGTTCTGATTCTTGTGGGTCAGAGGTTGAAGCAAGGCTCAGA control 28 49 0 0.0679772728654599 0.03398863643273 NA NA NA NA NA 0.890818709011566 0.85 0.948702096043073 0.935580201094442 -0.890818709011566 -0.78202272713454 NA NA 0.870409354505783 0.942141148568757 -0.836420718073053 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001084075 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001084404_000 ENSE00001084404 000 6 139568921 139569090 - 33 93 44 NA NA NA NA NA GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 NA NA NA NA NA NA TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC natural NA NA NA NA NA 1616 2453 0.959042621561435 0.998631973279004 0.978837297420219 NA NA 0.959042621561435 0.998631973279004 NA NA 0 0 NA 0.978837297420219 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001084404 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00001084404_005 ENSE00001084404 005 6 139568921 139569090 - 33 93 44 A C 139568942 2299 149 GTCAATATTTTGTTGGTGATACGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247804 139247805 139247805 downstr_intron 12 1.375 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCGTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 347 615 1 0.999938095225861 0.99996904761293 NA NA 0.959042621561435 0.998631973279004 NA NA 0.040957378438565 0.00130612194685731 NA 0.978837297420219 NA 0.0211317501927111 NA FALSE NA 0 -0.329 NA NA NA TXLNB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TXLNB NA NA NA ENSG00000164440 ENSE00001084404 intron_variant -0.026959 0.2591 0.12075 0.125411 0.495238927101003 0.156044 1.64577814159854e-16 FALSE 4.42454e-06 ENSE00001084404_BRK ENSE00001084404 BRK 6 139568921 139569090 - 33 93 44 A,G; T,T NA NA NA GTCAATATTTTGTTGGTGATAAGCAATACTCGGTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGAAGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 NA NA NA NA NA NA TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACTTCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAACCGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC control NA NA NA NA NA 107 31 0.172652340503318 0 0.0863261702516591 NA NA 0.959042621561435 0.998631973279004 NA NA -0.786390281058117 -0.998631973279004 NA 0.978837297420219 NA -0.89251112716856 NA TRUE NA NA NA NA NA NA TXLNB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TXLNB NA NA NA ENSG00000164440 ENSE00001084404 NA NA NA NA NA NA NA 1.64577814159854e-16 FALSE NA ENSE00001084407_000 ENSE00001084407 000 6 139565700 139565869 - 32 96 42 NA NA NA NA NA GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATCATGTCCAACAGAGCTTTGTTACAGTTCTCAAATCGGGCTTTCCATGTGGCTGTGTCCTTTTCCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAGAGTGAGTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 NA NA NA NA NA NA TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC natural 44 17 0.99981173865808 1 0.99990586932904 3713 1223 0.975059390019731 0.916549798373763 0.945804594196747 0.99981173865808 1 0.975059390019731 0.916549798373763 0 0 0 0 0.99990586932904 0.945804594196747 0 0 0 FALSE FALSE NA NA NA NA NA TXLNB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TXLNB NA NA NA ENSG00000164440 ENSE00003542331 NA NA NA NA NA NA NA 1.64577814159854e-16 FALSE NA ENSE00001084451_000 ENSE00001084451 000 5 170827796 170827965 + 47 87 36 NA NA NA NA NA GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGCAATTAGAAATTTATCTTAATCACTGTCCCTGACCCCAACAACA 171400791 171400961 NA NA NA NA NA NA TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC natural 143 255 0.84615741343512 0.85 0.84807870671756 1463 2526 0.836179765574785 0.691365896881228 0.763772831228006 0.84615741343512 0.85 0.836179765574785 0.691365896881228 0 0 0 0 0.84807870671756 0.763772831228006 0 0 0 FALSE FALSE NA NA NA NA NA NPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPM1 NA NA NA ENSG00000181163 ENSE00001084451 NA NA NA NA NA NA NA 0.959043977290382 TRUE NA ENSE00001084451_003 ENSE00001084451 003 5 170827796 170827965 + 47 87 36 G A 170827812 2283 17 GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGCAATTAGAAATTTATCTTAATCACTGTTCCTGACCCCAACAACA 171400791 171400961 171400807 171400808 171400808 upstr_intron -31 -0.638297872340426 TGTTGTTGGGGTCAGGAACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 633 54 0.904350357686852 0.969564567870057 0.936957462778455 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA 0.0681705921120678 0.278198670988829 0.84807870671756 0.763772831228006 NA 0.173184631550448 NA FALSE NA 0 -0.143 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/2 1 NA GGA G,A 8.237e-06 5:171400808 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 non_coding_transcript_exon_variant 0.23514 0.16664 0.08435 0.121938 0.781731786785265 0.0511652 0.959043977290382 TRUE 4.08584e-06 ENSE00001084451_004 ENSE00001084451 004 5 170827796 170827965 + 47 87 36 A G 170827813 2284 18 GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGCAATTAGAAATTTATCTTAATCACTGCCCCTGACCCCAACAACA 171400791 171400961 171400808 171400809 171400809 upstr_intron -30 -0.617021276595745 TGTTGTTGGGGTCAGGGGCAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 13 297 0.95 0.983318701048638 0.966659350524319 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA 0.113820234425215 0.29195280416741 0.84807870671756 0.763772831228006 NA 0.202886519296313 NA FALSE NA 0 -0.775 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/2 1 NA GAC A,G 8.237e-06 5:171400809 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 non_coding_transcript_exon_variant 0.195815 0.11679 0.02635 0.121938 0.70959484955279 0.0511652 0.959043977290382 TRUE 1.22508e-05 ENSE00001084451_005 ENSE00001084451 005 5 170827796 170827965 + 47 87 36 T C 170827817 2285 22 GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGCAATTAGAAATTTATCTTAATCGCTGTCCCTGACCCCAACAACA 171400791 171400961 171400812 171400813 171400813 upstr_intron -26 -0.531914893617021 TGTTGTTGGGGTCAGGGACAGCGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 217 39 0.80348003000369 0.8 0.801740015001845 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA -0.0326997355710947 0.108634103118772 0.84807870671756 0.763772831228006 NA 0.0379671837738386 NA FALSE NA 0.008 0.615 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/2 1 NA GTG T,C 8.237e-06 5:171400813 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 non_coding_transcript_exon_variant 0.908798 0.16988 0.12395 0.121938 0.843052761711643 0.0503576 0.959043977290382 TRUE 4.07827e-06 ENSE00001084451_006 ENSE00001084451 006 5 170827796 170827965 + 47 87 36 G A 170827818 2286 23 GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGCAATTAGAAATTTATCTTAATTACTGTCCCTGACCCCAACAACA 171400791 171400961 171400813 171400814 171400814 upstr_intron -25 -0.51063829787234 TGTTGTTGGGGTCAGGGACAGTAATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 201 118 0.986208617975762 0.979218875059897 0.98271374651783 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA 0.150028852400977 0.287852978178669 0.84807870671756 0.763772831228006 NA 0.218940915289823 NA FALSE NA 0.007 -0.012 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/2 1 NA TGA G,A 8.237e-06 5:171400814 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 non_coding_transcript_exon_variant 1.023229 0.21048 0.12652 0.121938 0.815276480112066 0.0503576 0.959043977290382 TRUE NA ENSE00001084451_009 ENSE00001084451 009 5 170827796 170827965 + 47 87 36 A C 170827827 2289 32 GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGCAATTAGAAATTGATCTTAATCACTGTCCCTGACCCCAACAACA 171400791 171400961 171400822 171400823 171400823 upstr_intron -16 -0.319148936170213 TGTTGTTGGGGTCAGGGACAGTGATTAAGATCAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 85 3278 0.95 0.947139297733351 0.948569648866675 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA 0.113820234425215 0.255773400852123 0.84807870671756 0.763772831228006 NA 0.184796817638669 NA FALSE NA 0 -1.328 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/2 1 NA TAA A,C 8.236e-06 5:171400823 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 non_coding_transcript_exon_variant -0.128036 0.14556 0.03088 0.121938 0.752016761755348 0.0503576 0.959043977290382 TRUE 4.071e-06 ENSE00001084451_011 ENSE00001084451 011 5 170827796 170827965 + 47 87 36 G A 170827839 2291 44 GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGTAATTAGAAATTTATCTTAATCACTGTCCCTGACCCCAACAACA 171400791 171400961 171400834 171400835 171400835 upstr_intron -4 -0.0638297872340425 TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTACAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 266 23 0.8 0.8 0.8 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA -0.0361797655747846 0.108634103118772 0.84807870671756 0.763772831228006 NA 0.0362271687719936 NA FALSE NA 1 0.37 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/2 1 NA TGC G,A 8.236e-06 5:171400835 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 splice_region_variant 1.754766 0.85343 0.72747 0.121938 0.77274452100426 0.259042 0.959043977290382 TRUE 4.07027e-06 ENSE00001084451_016 ENSE00001084451 016 5 170827796 170827965 + 47 87 36 C T 170827858 2296 63 GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGAAGTATCTCGTATAGACTGCAATTAGAAATTTATCTTAATCACTGTCCCTGACCCCAACAACA 171400791 171400961 171400853 171400854 171400854 exon 16 0.183908045977011 TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTTCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 618 594 0.793128335054569 0.8 0.796564167527285 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA -0.0430514305202152 0.108634103118772 0.84807870671756 0.763772831228006 NA 0.0327913362992783 NA FALSE NA 1 1.187 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/2 1 NA TCC C,T 8.237e-06 5:171400854 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 missense_variant 3.258278 0.88208 0.76578 0.722319 0.98338805618331 0 0.959043977290382 TRUE 4.06669e-06 ENSE00001084451_019 ENSE00001084451 019 5 170827796 170827965 + 47 87 36 T C 170827890 2299 95 GATCAATGAGACCCACGTGTAAATGTAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCGTTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGCAATTAGAAATTTATCTTAATCACTGTCCCTGACCCCAACAACA 171400791 171400961 171400885 171400886 171400886 exon -40 0.551724137931034 TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAACGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 91 167 0.871906415571894 0.910272113432427 0.89108926450216 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA 0.0357266499971091 0.218906216551199 0.84807870671756 0.763772831228006 NA 0.127316433274154 NA FALSE NA 1 2.764 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/2 1 NA ATG T,C 8.236e-06 5:171400886 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 synonymous_variant 0.788917 0.8846 0.86338 0.722319 0.694945490630336 0 0.959043977290382 TRUE 4.06398e-06 ENSE00001084451_025 ENSE00001084451 025 5 170827796 170827965 + 47 87 36 A G 170827940 2305 145 GATCAATGAGACCCACGTGTAAATGCAGCCACTTACTTTTGATCTTGGTGTTGATGATGGTTTTGAGTCTTTTCCATTCTGATTTGACTTTTGTGCATTTTTGGCTGGAGTATCTCGTATAGACTGCAATTAGAAATTTATCTTAATCACTGTCCCTGACCCCAACAACA 171400791 171400961 171400935 171400936 171400936 downstr_intron 11 1.31428571428571 TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTGCATTTACACGTGGGTCTCATTGATC TGTTGTTGGGGTCAGGGACAGTGATTAAGATAAATTTCTAATTGCAGTCTATACGAGATACTCCAGCCAAAAATGCACAAAAGTCAAATCAGAATGGAAAAGACTCAAAACCATCATCAACACCAAGATCAAAAGTAAGTGGCTACATTTACACGTGGGTCTCATTGATC mutant NA NA NA NA NA 2111 29 0.902709232959704 0.907466803868354 0.905088018414029 0.84615741343512 0.85 0.836179765574785 0.691365896881228 NA NA 0.066529467384919 0.216100906987126 0.84807870671756 0.763772831228006 NA 0.141315187186022 NA FALSE NA 0 0.269 . intron_variant&non_coding_transcript_variant MODIFIER NPM1 HGNC 7910 ENST00000519955 1/1 rs199814240 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAC A,G 8.237e-06 5:171400936 NPM1 HGNC Symbol protein_coding 24021 ENSG00000181163 ENSE00001084451 intron_variant 0.045264 0.16257 0.12138 0.0869 0.614762375444955 0.0476527 0.959043977290382 TRUE 4.06352e-06 ENSE00001085098_000 ENSE00001085098 000 5 34814641 34814810 + 47 87 36 NA NA NA NA NA TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 NA NA NA NA NA NA TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT natural NA NA NA NA NA 3444 1484 0.992197750671838 0.901644122410696 0.946920936541267 NA NA 0.992197750671838 0.901644122410696 NA NA 0 0 NA 0.946920936541267 NA 0 NA FALSE NA NA NA NA NA NA RAI14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAI14 NA NA NA ENSG00000039560 ENSE00003601390 NA NA NA NA NA NA NA 0.487656416164767 FALSE NA ENSE00001085098_002 ENSE00001085098 002 5 34814641 34814810 + 47 87 36 T G 34814654 444 14 TGAAGATACATTCGTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814548 34814549 34814549 upstr_intron -34 -0.702127659574468 TGAAGATACATTCGTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 311 956 1 0.998998539093424 0.999499269546712 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00780224932816231 0.097354416682728 NA 0.946920936541267 NA 0.0525783330054452 NA FALSE NA 0 0.644 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA CTT T,G 8.237e-06 5:34814549 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 intron_variant 0.087881 0.20005 0.17438 0.069865 0.311121638343035 0.0709024 0.487656416164767 FALSE 1.22596e-05 ENSE00001085098_003 ENSE00001085098 003 5 34814641 34814810 + 47 87 36 A C 34814657 445 17 TGAAGATACATTCTTTCTTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814551 34814552 34814552 upstr_intron -31 -0.638297872340426 TGAAGATACATTCTTTCTTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 624 163 1 1 1 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00780224932816231 0.0983558775893036 NA 0.946920936541267 NA 0.053079063458733 NA FALSE NA 0.617 2.008 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 rs368274931 1 NA C:0.0009 C:0 TAT A,C 7.413e-05 5:34814552 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 intron_variant 0.262252 0.36054 0.26295 0.115753 0.286226815026363 0.57546 0.487656416164767 FALSE 5.30877e-05 ENSE00001085098_006 ENSE00001085098 006 5 34814641 34814810 + 47 87 36 A G 34814708 448 68 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCGAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814602 34814603 34814603 exon 21 0.241379310344828 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCGAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 198 118 0.985766781459314 1 0.992883390729657 NA NA 0.992197750671838 0.901644122410696 NA NA -0.00643096921252329 0.0983558775893036 NA 0.946920936541267 NA 0.0459624541883902 NA FALSE NA 1 1.329 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA CAA A,G 1.647e-05 5:34814603 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 synonymous_variant 0.775243 0.96932 0.8253 0.706548 0.74507266983391 0 0.487656416164767 FALSE 2.84349e-05 ENSE00001085098_007 ENSE00001085098 007 5 34814641 34814810 + 47 87 36 A C 34814714 449 74 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCCATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814608 34814609 34814609 exon 27 0.310344827586207 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCCATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 910 171 1 1 1 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00780224932816231 0.0983558775893036 NA 0.946920936541267 NA 0.053079063458733 NA FALSE NA 1 1.365 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA CAA A,C 8.236e-06 5:34814609 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 synonymous_variant 0.103615 0.9711 0.85921 0.706548 0.639055710627402 0 0.487656416164767 FALSE 4.0619e-06 ENSE00001085098_008 ENSE00001085098 008 5 34814641 34814810 + 47 87 36 A G 34814715 450 75 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAGTAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814609 34814610 34814610 exon 28 0.32183908045977 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAGTAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 573 99 1 0.998399125770752 0.999199562885376 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00780224932816231 0.0967550033600559 NA 0.946920936541267 NA 0.0522786263441091 NA FALSE NA 1 1.554 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA AAT A,G 1.647e-05 5:34814610 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 missense_variant 0.311307 0.96425 0.77577 0.706548 0.956193301888831 0 0.487656416164767 FALSE 8.12374e-06 ENSE00001085098_010 ENSE00001085098 010 5 34814641 34814810 + 47 87 36 C G 34814719 452 79 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAAGTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814613 34814614 34814614 exon 32 0.367816091954023 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAAGTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 75 206 1 0.999231493289509 0.999615746644754 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00780224932816231 0.0975873708788122 NA 0.946920936541267 NA 0.0526948101034873 NA FALSE NA 1 3.446 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA ACT C,G 1.647e-05 5:34814614 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 missense_variant 4.895752 0.98507 0.9616 0.706548 0.996932961298849 0 0.487656416164767 FALSE 8.12361e-06 ENSE00001085098_011 ENSE00001085098 011 5 34814641 34814810 + 47 87 36 C T 34814722 453 82 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTTGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814616 34814617 34814617 exon 35 0.402298850574713 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTTGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 43 1708 0.867129463860918 1 0.933564731930459 NA NA 0.992197750671838 0.901644122410696 NA NA -0.12506828681092 0.0983558775893036 NA 0.946920936541267 NA -0.013356204610808 NA FALSE NA 1 4.966 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 rs200561714 1 NA T:0.0002 T:0.0005 TCG C,T 0.0001977 5:34814617 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 missense_variant 7.443888 0.99017 0.97179 0.706548 0.999374097948993 0 0.487656416164767 FALSE 0.000194965 ENSE00001085098_013 ENSE00001085098 013 5 34814641 34814810 + 47 87 36 C T 34814734 455 94 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATTGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814628 34814629 34814629 exon -41 0.540229885057471 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATTGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 1111 372 0.991440329094921 0.982603037032087 0.987021683063504 NA NA 0.992197750671838 0.901644122410696 NA NA -0.00075742157691705 0.0809589146213905 NA 0.946920936541267 NA 0.0401007465222367 NA FALSE NA 0.999 3.44 rs140326715 downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 rs140326715 1 NA T:0.0002 T:0 TCG C,T 1.647e-05 5:34814629 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 missense_variant 5.36502 0.99008 0.95884 0.706548 0.999059728419592 0 0.487656416164767 FALSE 2.8431e-05 ENSE00001085098_014 ENSE00001085098 014 5 34814641 34814810 + 47 87 36 G A 34814736 456 96 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGAGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814630 34814631 34814631 exon -39 0.563218390804598 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGAGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 307 524 1 1 1 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00780224932816231 0.0983558775893036 NA 0.946920936541267 NA 0.053079063458733 NA FALSE NA 1 6.28 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA GGG G,A 8.236e-06 5:34814631 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 missense_variant 6.569292 0.99032 0.98018 0.706548 0.999430886552511 0 0.487656416164767 FALSE 4.06184e-06 ENSE00001085098_017 ENSE00001085098 017 5 34814641 34814810 + 47 87 36 C T 34814746 459 106 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATTGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814640 34814641 34814641 exon -29 0.67816091954023 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATTGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 86 34 1 1 1 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00780224932816231 0.0983558775893036 NA 0.946920936541267 NA 0.053079063458733 NA FALSE NA 0.967 2.556 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 rs199515102&COSM1695556 1 NA TCG C,T 6.589e-05 5:34814641 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 missense_variant 4.227621 0.95858 0.79027 0.706548 0.996981951394157 0 0.487656416164767 FALSE 9.342e-05 ENSE00001085098_021 ENSE00001085098 021 5 34814641 34814810 + 47 87 36 C A 34814763 463 123 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAAACACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814657 34814658 34814658 exon -12 0.873563218390805 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAAACACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 39 110 0.998939979365871 1 0.999469989682935 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00674222869403296 0.0983558775893036 NA 0.946920936541267 NA 0.0525490531416683 NA FALSE NA 0.997 1.246 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA ACC C,A 8.236e-06 5:34814658 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 missense_variant 1.562411 0.4315 0.70045 0.706548 0.678606166282922 0 0.487656416164767 FALSE 8.12473e-06 ENSE00001085098_023 ENSE00001085098 023 5 34814641 34814810 + 47 87 36 G A 34814774 465 134 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAAGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814668 34814669 34814669 exon -1 1 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAAGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 135 10 1 1 1 NA NA 0.992197750671838 0.901644122410696 NA NA 0.00780224932816231 0.0983558775893036 NA 0.946920936541267 NA 0.053079063458733 NA FALSE NA 1 6.28 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA AGG G,A 8.236e-06 5:34814669 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 splice_region_variant 2.066669 0.9904 0.98023 0.706548 0.895715583714438 0 0.487656416164767 FALSE 8.1277e-06 ENSE00001085098_024 ENSE00001085098 024 5 34814641 34814810 + 47 87 36 C T 34814786 466 146 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTTTGTATTCAGTTTTGTTACTGTATT 34814535 34814705 34814680 34814681 34814681 downstr_intron 12 1.34285714285714 TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTTTGTATTCAGTTTTGTTACTGTATT TGAAGATACATTCTTTATTAATGATTTTCATTTTGTTTCTTTTTTAGTTGAGTGATGTCTCTTCCCCAAGATCAATAACTTCGACTCCACTATCGGGAAAGGAATCGGTATTTTTTGCTGAACCACCCTTCAAGGTATTTCCTTTCTGTATTCAGTTTTGTTACTGTATT mutant NA NA NA NA NA 464 95 0.851108340055828 1 0.925554170027914 NA NA 0.992197750671838 0.901644122410696 NA NA -0.14108941061601 0.0983558775893036 NA 0.946920936541267 NA -0.021366766513353 NA FALSE NA 0.019 0.166 . downstream_gene_variant MODIFIER RAI14 HGNC 14873 ENST00000507276 1 NA TCT C,T 0.0001071 5:34814681 RAI14 HGNC Symbol protein_coding 176390 ENSG00000039560 ENSE00003601390 intron_variant 0.270436 0.56812 0.17589 0.099367 0.608457220039353 0.211355 0.487656416164767 FALSE 8.53895e-05 ENSE00001085837_000 ENSE00001085837 000 5 159840867 159841036 - 39 81 50 NA NA NA NA NA TCTGACAACGGTTTTCAAAATTTTCAAAGGTGAACTTACCTCAAAGCAGTCTTTCTTTTTGTGTGTCATGGCCCCACAATTTTCACATGCTCCTTTGCGGTACTTAGTAATTATGGAATTCTATAAATATATATAAAGAAAAACAAAAATGTCTTAACCACGTAAGTTAG 160413859 160414029 NA NA NA NA NA NA CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA natural NA NA NA NA NA 768 469 0.984533382202724 0.974347137408248 0.979440259805486 NA NA 0.984533382202724 0.974347137408248 NA NA 0 0 NA 0.979440259805486 NA 0 NA FALSE NA NA NA NA NA NA SLU7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLU7 NA NA NA ENSG00000164609 ENSE00001085837 NA NA NA NA NA NA NA 0.000115176106946952 FALSE NA ENSE00001085837_001 ENSE00001085837 001 5 159840867 159841036 - 39 81 50 A T 159840884 2096 153 TCTGACAACGGTTTTCATAATTTTCAAAGGTGAACTTACCTCAAAGCAGTCTTTCTTTTTGTGTGTCATGGCCCCACAATTTTCACATGCTCCTTTGCGGTACTTAGTAATTATGGAATTCTATAAATATATATAAAGAAAAACAAAAATGTCTTAACCACGTAAGTTAG 160413859 160414029 160413876 160413877 160413877 downstr_intron 22 1.57894736842105 CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTATGAAAACCGTTGTCAGA CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA mutant NA NA NA NA NA 1376 185 0.896962737854885 0.999144158613768 0.948053448234327 NA NA 0.984533382202724 0.974347137408248 NA NA -0.0875706443478392 0.0247970212055202 NA 0.979440259805486 NA -0.0313868115711595 NA FALSE NA 0.42 0.163 . downstream_gene_variant MODIFIER SLU7 HGNC 16939 ENST00000520664 1 NA AAA A,T 8.237e-06 5:160413877 SLU7 HGNC Symbol protein_coding 20070 ENSG00000164609 ENSE00001085837 non_coding_transcript_exon_variant 0.262535 0.26017 0.30874 0.322412 0.780289272148123 0.0905788 0.000115176106946952 FALSE 9.56416e-06 ENSE00001085837_002 ENSE00001085837 002 5 159840867 159841036 - 39 81 50 C G 159840913 2097 124 TCTGACAACGGTTTTCAAAATTTTCAAAGGTGAACTTACCTCAAAGGAGTCTTTCTTTTTGTGTGTCATGGCCCCACAATTTTCACATGCTCCTTTGCGGTACTTAGTAATTATGGAATTCTATAAATATATATAAAGAAAAACAAAAATGTCTTAACCACGTAAGTTAG 160413859 160414029 160413905 160413906 160413906 exon -8 0.91358024691358 CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTCCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA mutant NA NA NA NA NA 125 66 0.99598102261651 1 0.997990511308255 NA NA 0.984533382202724 0.974347137408248 NA NA 0.0114476404137855 0.025652862591752 NA 0.979440259805486 NA 0.0185502515027688 NA FALSE NA 1 7.332 . downstream_gene_variant MODIFIER SLU7 HGNC 16939 ENST00000520664 1 NA GCA C,G 8.237e-06 5:160413906 SLU7 HGNC Symbol protein_coding 20070 ENSG00000164609 ENSE00001085837 missense_variant 5.776137 0.99485 0.99501 0.732398 0.995503480170383 0 0.000115176106946952 FALSE 4.3343e-06 ENSE00001085837_003 ENSE00001085837 003 5 159840867 159841036 - 39 81 50 T G 159840925 2098 112 TCTGACAACGGTTTTCAAAATTTTCAAAGGTGAACTTACCTCAAAGCAGTCTTTCTTTGTGTGTGTCATGGCCCCACAATTTTCACATGCTCCTTTGCGGTACTTAGTAATTATGGAATTCTATAAATATATATAAAGAAAAACAAAAATGTCTTAACCACGTAAGTTAG 160413859 160414029 160413917 160413918 160413918 exon -20 0.765432098765432 CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACACAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA mutant NA NA NA NA NA 107 583 1 0.99340604178786 0.99670302089393 NA NA 0.984533382202724 0.974347137408248 NA NA 0.0154666177972757 0.0190589043796122 NA 0.979440259805486 NA 0.0172627610884439 NA FALSE NA 1 3.893 . downstream_gene_variant MODIFIER SLU7 HGNC 16939 ENST00000520664 rs569760465 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TTT T,G 8.237e-06 5:160413918 SLU7 HGNC Symbol protein_coding 20070 ENSG00000164609 ENSE00001085837 missense_variant 2.659041 0.98862 0.97607 0.732398 0.978607325025337 0 0.000115176106946952 FALSE 4.23664e-06 ENSE00001085837_007 ENSE00001085837 007 5 159840867 159841036 - 39 81 50 T C 159840947 2102 90 TCTGACAACGGTTTTCAAAATTTTCAAAGGTGAACTTACCTCAAAGCAGTCTTTCTTTTTGTGTGTCATGGCCCCACAATCTTCACATGCTCCTTTGCGGTACTTAGTAATTATGGAATTCTATAAATATATATAAAGAAAAACAAAAATGTCTTAACCACGTAAGTTAG 160413859 160414029 160413939 160413940 160413940 exon 40 0.493827160493827 CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAGATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA mutant NA NA NA NA NA 77 606 1 1 1 NA NA 0.984533382202724 0.974347137408248 NA NA 0.0154666177972757 0.025652862591752 NA 0.979440259805486 NA 0.0205597401945138 NA FALSE NA 1 7.694 . downstream_gene_variant MODIFIER SLU7 HGNC 16939 ENST00000520664 1 NA TTT T,C 8.237e-06 5:160413940 SLU7 HGNC Symbol protein_coding 20070 ENSG00000164609 ENSE00001085837 missense_variant 4.499414 0.99323 0.99378 0.732398 0.997944464875532 0 0.000115176106946952 FALSE 4.19319e-06 ENSE00001085837_012 ENSE00001085837 012 5 159840867 159841036 - 39 81 50 T A 159840994 2107 43 CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATTTTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA 160413859 160414029 160413986 160413987 160413987 upstr_intron -8 -0.14 CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATTTTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA CTAACTTACGTGGTTAAGACATTTTTGTTTTTCTTTATATATATTTATAGAATTCCATAATTACTAAGTACCGCAAAGGAGCATGTGAAAATTGTGGGGCCATGACACACAAAAAGAAAGACTGCTTTGAGGTAAGTTCACCTTTGAAAATTTTGAAAACCGTTGTCAGA mutant NA NA NA NA NA 536 16 1 0.8 0.9 NA NA 0.984533382202724 0.974347137408248 NA NA 0.0154666177972757 -0.174347137408248 NA 0.979440259805486 NA -0.0794402598054861 NA FALSE NA 0 -0.272 . downstream_gene_variant MODIFIER SLU7 HGNC 16939 ENST00000520664 1 NA ATA T,A 8.28e-06 5:160413987 SLU7 HGNC Symbol protein_coding 20070 ENSG00000164609 ENSE00001085837 splice_region_variant 0.371079 0.1536 0.03431 0.088506 0.516541856772675 0.0869167 0.000115176106946952 FALSE 4.91005e-06 ENSE00001086629_000 ENSE00001086629 000 7 94045676 94045845 + 41 99 30 NA NA NA NA NA GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 NA NA NA NA NA NA GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT natural NA NA NA NA NA 3765 4216 0.904202308241731 0.722818744958672 0.813510526600202 NA NA 0.904202308241731 0.722818744958672 NA NA 0 0 NA 0.813510526600202 NA 0 NA FALSE NA NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003574448 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086629_001 ENSE00001086629 001 7 94045676 94045845 + 41 99 30 T G 94045696 1814 21 GTGATGAATGGTGCAACACTGCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416383 94416384 94416384 upstr_intron -21 -0.48780487804878 GTGATGAATGGTGCAACACTGCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 206 20 0.811254295130727 0.814492334827181 0.812873314978954 NA NA 0.904202308241731 0.722818744958672 NA NA -0.0929480131110041 0.0916735898685087 NA 0.813510526600202 NA -0.000637211621247691 NA FALSE NA 0 1.366 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 4/4 1 NA TTC T,G 8.584e-06 7:94416384 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 intron_variant 0.46731 0.24445 0.24709 0.062308 0.664755895156837 0.0580712 0.99975494444276 TRUE 6.44887e-06 ENSE00001086629_002 ENSE00001086629 002 7 94045676 94045845 + 41 99 30 A G 94045722 1815 47 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAGCGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416409 94416410 94416410 exon 6 0.0606060606060606 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAGCGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 63 82 0.958419790552743 0.944306705252877 0.95136324790281 NA NA 0.904202308241731 0.722818744958672 NA NA 0.0542174823110116 0.221487960294204 NA 0.813510526600202 NA 0.137852721302608 NA FALSE NA 0.981 0.128 rs138019868 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 5/5 rs138019868 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0002 AAC A,G 9.165e-05 7:94416410 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 synonymous_variant 0.799951 0.88985 0.38096 0.706548 0.581242095642629 0 0.99975494444276 TRUE 0.000106104 ENSE00001086629_004 ENSE00001086629 004 7 94045676 94045845 + 41 99 30 C T 94045725 1817 50 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGTGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416412 94416413 94416413 exon 9 0.0909090909090909 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGTGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 305 152 0.963066858411963 0.790711831850529 0.876889345131246 NA NA 0.904202308241731 0.722818744958672 NA NA 0.0588645501702317 0.0678930868918564 NA 0.813510526600202 NA 0.063378818531044 NA FALSE NA 0.956 0.013 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 5/5 COSM3950974 1 NA GCG C,T 1.663e-05 7:94416413 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 synonymous_variant 2.264493 0.8795 0.21797 0.706548 0.591238222016124 0 0.99975494444276 TRUE NA ENSE00001086629_006 ENSE00001086629 006 7 94045676 94045845 + 41 99 30 C T 94045752 1819 77 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCTGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416439 94416440 94416440 exon 36 0.363636363636364 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCTGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 176 425 0.858789120803536 0.871276339835931 0.865032730319734 NA NA 0.904202308241731 0.722818744958672 NA NA -0.0454131874381946 0.148457594877258 NA 0.813510526600202 NA 0.0515222037195319 NA FALSE NA 0 -0.283 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 5/5 1 NA CCG C,T 2.484e-05 7:94416440 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 synonymous_variant 2.631844 0.88744 0.04338 0.706548 0.600762526104711 0 0.99975494444276 TRUE NA ENSE00001086629_007 ENSE00001086629 007 7 94045676 94045845 + 41 99 30 C A 94045765 1820 90 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTACTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416452 94416453 94416453 exon 49 0.494949494949495 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTACTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 16 298 1 0.903481560514515 0.951740780257257 NA NA 0.904202308241731 0.722818744958672 NA NA 0.095797691758269 0.180662815555842 NA 0.813510526600202 NA 0.138230253657056 NA FALSE NA 0.871 0.889 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 5/5 COSM2865012 1 NA TCC C,A 8.28e-06 7:94416453 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 missense_variant 1.807947 0.94037 0.87851 0.706548 0.773263440756565 0 0.99975494444276 TRUE NA ENSE00001086629_008 ENSE00001086629 008 7 94045676 94045845 + 41 99 30 T C 94045769 1821 94 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTACTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416456 94416457 94416457 exon -47 0.535353535353535 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTACTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 1042 381 0.986255061667049 0.970136990084912 0.97819602587598 NA NA 0.904202308241731 0.722818744958672 NA NA 0.0820527534253177 0.24731824512624 NA 0.813510526600202 NA 0.164685499275779 NA FALSE NA 0.952 2.701 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 5/5 1 NA ATT T,C 8.29e-06 7:94416457 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 missense_variant 1.827268 0.9445 0.89388 0.706548 0.933310174205471 0 0.99975494444276 TRUE 3.00021e-05 ENSE00001086629_010 ENSE00001086629 010 7 94045676 94045845 + 41 99 30 C A 94045777 1823 102 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCAGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416464 94416465 94416465 exon -39 0.616161616161616 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCAGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 1767 717 0.714823721274085 0.805685323424327 0.760254522349206 NA NA 0.904202308241731 0.722818744958672 NA NA -0.189378586967646 0.0828665784656547 NA 0.813510526600202 NA -0.0532560042509956 NA FALSE NA 1 3.96 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94416465 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 synonymous_variant 2.982126 0.94747 0.94085 0.706548 0.698847842856768 0 0.99975494444276 TRUE NA ENSE00001086629_011 ENSE00001086629 011 7 94045676 94045845 + 41 99 30 G A 94045778 1824 103 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCAAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416465 94416466 94416466 exon -38 0.626262626262626 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCAAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 598 540 0.889455988028104 0.8153412134812 0.852398600754652 NA NA 0.904202308241731 0.722818744958672 NA NA -0.014746320213627 0.0925224685225278 NA 0.813510526600202 NA 0.0388880741544504 NA FALSE NA 1 9.772 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 5/5 1 NA CGA G,A 3.32e-05 7:94416466 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 missense_variant 5.078603 0.97627 0.9835 0.706548 0.999128416523391 0 0.99975494444276 TRUE NA ENSE00001086629_013 ENSE00001086629 013 7 94045676 94045845 + 41 99 30 A G 94045818 1826 143 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTGAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 94416505 94416506 94416506 downstr_intron 3 1.10344827586207 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTGAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 156 89 0 0 0 NA NA 0.904202308241731 0.722818744958672 NA NA -0.904202308241731 -0.722818744958672 NA 0.813510526600202 NA -0.813510526600202 NA TRUE NA 1 4.41 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 5/5 rs570919022 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAA A,G 3.423e-05 7:94416506 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 splice_region_variant 1.559925 0.92786 0.76378 0.106106 0.925884335963128 0.919719 0.99975494444276 TRUE 4.97884e-05 ENSE00001086629_014 ENSE00001086629 014 7 94045676 94045845 + 41 99 30 A G 94045826 1827 151 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTGTGTTTTCTATATTGCTGGT 94416363 94416533 94416513 94416514 94416514 downstr_intron 11 1.37931034482759 GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTGTGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT mutant NA NA NA NA NA 24 164 0.826527650185001 0.827392854676052 0.826960252430527 NA NA 0.904202308241731 0.722818744958672 NA NA -0.07767465805673 0.10457410971738 NA 0.813510526600202 NA 0.0134497258303249 NA FALSE NA 0 -1.04 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 5/5 1 NA TAT A,G 8.737e-06 7:94416514 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003574448 non_coding_transcript_exon_variant 0.121211 0.23377 0.0735 0.088506 0.532644314016018 0.0897839 0.99975494444276 TRUE NA ENSE00001086629_BRK ENSE00001086629 BRK 7 94045676 94045845 + 41 99 30 A,G; T,T NA NA NA GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCTTGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGCCAAAATCTTATGTTTTCTATATTGCTGGT 94416363 94416533 NA NA NA NA NA NA GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCTTGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGCCAAAATCTTATGTTTTCTATATTGCTGGT GTGATGAATGGTGCAACACTTCTTCTAATCACTTTTTTCAGGGGGAACGCGGTCCCCCAGGTGAGAGTGGTGCTGCCGGTCCTACTGGTCCTATTGGAAGCCGAGGTCCTTCTGGACCCCCAGGGCCTGATGGAAACAAGGTAAAATCTTATGTTTTCTATATTGCTGGT control NA NA NA NA NA 178 208 0 0 0 NA NA 0.904202308241731 0.722818744958672 NA NA -0.904202308241731 -0.722818744958672 NA 0.813510526600202 NA -0.813510526600202 NA TRUE NA NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003574448 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086630_000 ENSE00001086630 000 7 94034922 94035091 + 63 54 53 NA NA NA NA NA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 NA NA NA NA NA NA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA natural 73 70 0.987318147714493 0.998746677121797 0.993032412418145 11485 6057 0.966542484344703 0.969384428346511 0.967963456345607 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 0 0 0 0 0.993032412418145 0.967963456345607 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086630 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086630_001 ENSE00001086630 001 7 94034922 94035091 + 63 54 53 T C 94034934 1547 13 GAAGTCACTGTCCTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405621 94405622 94405622 upstr_intron -51 -0.793650793650794 GAAGTCACTGTCCTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 869 56 1 0.999317505813606 0.999658752906803 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0334575156552972 0.0299330774670952 0.993032412418145 0.967963456345607 NA 0.0316952965611962 NA FALSE NA 0.017 0.989 rs187138175 intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 10/51 rs187138175 1 C:0.0018 C:0.0068 C:0 NA C:0 C:0 C:0 C:0.0025 C:0 CTT T 0.0004201 7:94405622 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 intron_variant 0.090253 0.25724 0.17655 0.088506 0.39741951353164 0.0964045 0.99975494444276 TRUE 0.000308905 ENSE00001086630_003 ENSE00001086630 003 7 94034922 94035091 + 63 54 53 G A 94034988 1549 67 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTACTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405675 94405676 94405676 exon 4 0.0740740740740741 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTACTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 316 133 1 1 1 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0334575156552972 0.0306155716534894 0.993032412418145 0.967963456345607 NA 0.0320365436543933 NA FALSE NA 1 9.422 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 11/52 1 unknown(0) NA TGC G 3.295e-05 7:94405676 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 missense_variant 5.247045 0.97466 0.97599 0.706548 0.997044136298616 0 0.99975494444276 TRUE 3.24921e-05 ENSE00001086630_004 ENSE00001086630 004 7 94034922 94035091 + 63 54 53 G A 94034992 1550 71 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCATGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405679 94405680 94405680 exon 8 0.148148148148148 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCATGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 203 32 0.787241447009471 0.823137455227144 0.805189451118307 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA -0.179301037335232 -0.146246973119367 0.993032412418145 0.967963456345607 NA -0.162774005227299 NA FALSE NA 1 9.422 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 11/52 1 unknown(0) NA CGT G 1.647e-05 7:94405680 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 missense_variant 5.962522 0.97466 0.97599 0.706548 0.997628639274548 0 0.99975494444276 TRUE 8.12341e-06 ENSE00001086630_006 ENSE00001086630 006 7 94034922 94035091 + 63 54 53 T C 94035020 1552 99 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCCGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405707 94405708 94405708 exon -19 0.666666666666667 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCCGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 1434 782 0.985636396458147 0.991298958774094 0.988467677616121 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0190939121134445 0.0219145304275833 0.993032412418145 0.967963456345607 NA 0.0205042212705139 NA FALSE NA 1 0.952 . synonymous_variant LOW COL1A2 HGNC 2198 ENST00000297268 11/52 1 NA CTG T 8.236e-06 7:94405708 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 synonymous_variant 0.4434 0.91715 0.80087 0.706548 0.585658920320822 0 0.99975494444276 TRUE 4.06157e-06 ENSE00001086630_007 ENSE00001086630 007 7 94034922 94035091 + 63 54 53 T C 94035024 1553 103 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCCTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405711 94405712 94405712 exon -15 0.740740740740741 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCCTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 561 812 1 0.999953118414346 0.999976559207173 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0334575156552972 0.0305686900678351 0.993032412418145 0.967963456345607 NA 0.0320131028615662 NA FALSE NA 1 4.935 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 11/52 rs370234887 1 unknown(0) NA C:0 C:0.0005 CTT T 9.06e-05 7:94405712 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 missense_variant 1.990357 0.95268 0.90455 0.706548 0.932265987638483 0 0.99975494444276 TRUE 0.00010967 ENSE00001086630_008 ENSE00001086630 008 7 94034922 94035091 + 63 54 53 A G 94035028 1554 107 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAGAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405715 94405716 94405716 exon -11 0.814814814814815 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAGAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 503 1018 0.943713491977685 0.998599212043223 0.971156352010454 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA -0.0228289923670179 0.0292147836967125 0.993032412418145 0.967963456345607 NA 0.00319289566484732 NA FALSE NA 1 8.911 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 11/52 1 unknown(0) NA AAA A 8.236e-06 7:94405716 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 missense_variant 4.309597 0.96848 0.976 0.706548 0.997532550922101 0 0.99975494444276 TRUE 4.06184e-06 ENSE00001086630_009 ENSE00001086630 009 7 94034922 94035091 + 63 54 53 T A 94035035 1555 114 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATAAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405722 94405723 94405723 exon -4 0.944444444444444 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATAAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 232 491 0.978863963616777 1 0.989431981808389 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0123214792720745 0.0306155716534894 0.993032412418145 0.967963456345607 NA 0.0214685254627819 NA FALSE NA 0.999 0.764 . synonymous_variant LOW COL1A2 HGNC 2198 ENST00000297268 11/52 1 NA TTA T 8.236e-06 7:94405723 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 synonymous_variant 2.008639 0.91298 0.82481 0.706548 0.732940008312814 0 0.99975494444276 TRUE 4.06167e-06 ENSE00001086630_010 ENSE00001086630 010 7 94034922 94035091 + 63 54 53 A G 94035047 1556 126 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACGTTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405734 94405735 94405735 downstr_intron 9 1.17307692307692 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACGTTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 1929 1871 0.997951979123653 0.994501367415356 0.996226673269504 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0314094947789498 0.0251169390688454 0.993032412418145 0.967963456345607 NA 0.0282632169238976 NA FALSE NA 0 -0.786 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 11/51 1 NA CAT A 8.236e-06 7:94405735 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 intron_variant 0.445207 0.16908 0.16316 0.088506 0.509989850724996 0.128994 0.99975494444276 TRUE 1.2186e-05 ENSE00001086630_011 ENSE00001086630 011 7 94034922 94035091 + 63 54 53 T C 94035048 1557 127 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACACTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405735 94405736 94405736 downstr_intron 10 1.19230769230769 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACACTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 923 2802 0.999168841632069 0.991030173924776 0.995099507778422 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0326263572873663 0.0216457455782652 0.993032412418145 0.967963456345607 NA 0.0271360514328157 NA FALSE NA 0.389 3.315 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 11/51 1 NA ATT T 8.236e-06 7:94405736 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 intron_variant 0.685439 0.55277 0.85092 0.088506 0.772055137381345 0.128994 0.99975494444276 TRUE 4.0621e-06 ENSE00001086630_012 ENSE00001086630 012 7 94034922 94035091 + 63 54 53 T C 94035053 1558 132 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTCACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405740 94405741 94405741 downstr_intron 15 1.28846153846154 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTCACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 618 812 0.993994498609284 0.999145342872578 0.996569920740931 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0274520142645813 0.0297609145260676 0.993032412418145 0.967963456345607 NA 0.0286064643953244 NA FALSE NA 0.242 1.899 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 11/51 rs537927166 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTA T 8.236e-06 7:94405741 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 intron_variant 0.272783 0.25047 0.17464 0.088506 0.653094499571354 0.076767 0.99975494444276 TRUE 4.0622e-06 ENSE00001086630_013 ENSE00001086630 013 7 94034922 94035091 + 63 54 53 C A 94035055 1559 134 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTAATCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405742 94405743 94405743 downstr_intron 17 1.32692307692308 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTAATCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 1936 2483 0.953160630431612 0.958395368997003 0.955777999714307 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA -0.0133818539130909 -0.0109890593495079 0.993032412418145 0.967963456345607 NA -0.0121854566312994 NA FALSE NA 0 -1.133 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 11/51 1 NA ACT C 8.236e-06 7:94405743 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 intron_variant 0.303907 0.26256 0.12602 0.088506 0.534851315206201 0.126154 0.99975494444276 TRUE 8.12466e-06 ENSE00001086630_014 ENSE00001086630 014 7 94034922 94035091 + 63 54 53 C G 94035057 1560 136 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTGAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 94405744 94405745 94405745 downstr_intron 19 1.36538461538462 GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTGAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA mutant NA NA NA NA NA 593 772 1 0.9996541777431 0.99982708887155 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 NA NA 0.0334575156552972 0.0302697493965892 0.993032412418145 0.967963456345607 NA 0.0318636325259432 NA FALSE NA 0 0.868 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 11/51 1 NA TCA C 8.236e-06 7:94405745 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086630 intron_variant -0.078593 0.33185 0.22634 0.088506 0.549443751952493 0.076767 0.99975494444276 TRUE 4.06223e-06 ENSE00001086630_BRK ENSE00001086630 BRK 7 94034922 94035091 + 63 54 53 A,G; T,T NA NA NA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTATTGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGCCGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA 94405609 94405779 NA NA NA NA NA NA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTATTGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGCCGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA GAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAGGGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGGGTGAGCACATTCTTTACTCAGAAGAGAGAAAATGCCTATTAATTTTTGGAAAA control 201 86 0 0 0 2767 859 0.0179473088692761 0.00570058794523502 0.0118239484072556 0.987318147714493 0.998746677121797 0.966542484344703 0.969384428346511 -0.987318147714493 -0.998746677121797 -0.948595175475427 -0.963683840401276 0.993032412418145 0.967963456345607 -0.993032412418145 -0.956139507938351 0.0368929044797937 TRUE TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086630 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086635_000 ENSE00001086635 000 7 94056257 94056426 + 63 54 53 NA NA NA NA NA AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 NA NA NA NA NA NA AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG natural 578 730 0.84619740015487 0.843921472680563 0.845059436417717 1694 1331 0.80357308503214 0.845892056151106 0.824732570591623 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 0 0 0 0 0.845059436417717 0.824732570591623 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003548385 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086635_003 ENSE00001086635 003 7 94056257 94056426 + 63 54 53 C G 94056286 1941 30 AAAAAAAAATATGTCTCTTGACATGTGCTGTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94426973 94426974 94426974 upstr_intron -34 -0.523809523809524 AAAAAAAAATATGTCTCTTGACATGTGCTGTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 146 62 0.00206220486754114 0 0.00103110243377057 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.801510880164598 -0.845892056151106 0.845059436417717 0.824732570591623 NA -0.823701468157852 NA TRUE NA 0.998 1.114 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TCT C,G 8.237e-06 7:94426974 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 non_coding_transcript_exon_variant 1.357842 0.93577 0.86881 0.062308 0.603693061845331 0.982751 0.99975494444276 TRUE 4.08437e-06 ENSE00001086635_005 ENSE00001086635 005 7 94056257 94056426 + 63 54 53 G A 94056296 1943 40 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTAATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94426983 94426984 94426984 upstr_intron -24 -0.365079365079365 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTAATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 1043 284 0.87858151462775 0.815533827221396 0.847057670924573 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA 0.0750084295956104 -0.0303582289297103 0.845059436417717 0.824732570591623 NA 0.02232510033295 NA FALSE NA 1 0.562 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TGA G,A 8.237e-06 7:94426984 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 non_coding_transcript_exon_variant 1.627615 0.26314 0.4265 0.062308 0.667304107081183 0.487588 0.99975494444276 TRUE 1.22235e-05 ENSE00001086635_006 ENSE00001086635 006 7 94056257 94056426 + 63 54 53 T G 94056301 1944 45 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTGCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94426988 94426989 94426989 upstr_intron -19 -0.285714285714286 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTGCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 366 61 0.036112747550714 0.0249694503322208 0.0305410989414674 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.767460337481426 -0.820922605818886 0.845059436417717 0.824732570591623 NA -0.794191471650156 NA TRUE NA 0.011 2.201 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TTC T,G 2.471e-05 7:94426989 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 non_coding_transcript_exon_variant 1.58953 0.32454 0.81348 0.099367 0.794419223501543 0.814542 0.99975494444276 TRUE 2.85002e-05 ENSE00001086635_007 ENSE00001086635 007 7 94056257 94056426 + 63 54 53 T G 94056307 1945 51 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTGCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94426994 94426995 94426995 upstr_intron -13 -0.19047619047619 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTGCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 628 220 0.0125991140126307 0 0.00629955700631533 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.790973971019509 -0.845892056151106 0.845059436417717 0.824732570591623 NA -0.818433013585308 NA TRUE NA 0.954 1.837 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TTC T,G 8.236e-06 7:94426995 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 non_coding_transcript_exon_variant 2.054755 0.41085 0.4619 0.099367 0.813104045041926 0.842704 0.99975494444276 TRUE 8.13769e-06 ENSE00001086635_008 ENSE00001086635 008 7 94056257 94056426 + 63 54 53 C T 94056312 1946 56 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTTTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94426999 94427000 94427000 upstr_intron -8 -0.111111111111111 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTTTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 630 195 0.8 0.8 0.8 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.0035730850321396 -0.0458920561511063 0.845059436417717 0.824732570591623 NA -0.0247325705916229 NA FALSE NA 0.967 0.07 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TCT C,T 8.236e-06 7:94427000 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 splice_region_variant 1.629092 0.32484 0.45986 0.099367 0.789660670575566 0.444234 0.99975494444276 TRUE NA ENSE00001086635_009 ENSE00001086635 009 7 94056257 94056426 + 63 54 53 T C 94056315 1947 59 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTCAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427002 94427003 94427003 upstr_intron -5 -0.0634920634920635 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTCAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 313 173 0.902733278658739 0.823510483837653 0.863121881248196 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA 0.0991601936265998 -0.0223815723134533 0.845059436417717 0.824732570591623 NA 0.0383893106565733 NA FALSE NA 0.94 2.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94427003 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 splice_region_variant 1.080008 0.29999 0.69883 0.099367 0.676346163146016 0.45636 0.99975494444276 TRUE 1.22024e-05 ENSE00001086635_010 ENSE00001086635 010 7 94056257 94056426 + 63 54 53 T A 94056315 1948 59 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTAAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427002 94427003 94427003 upstr_intron -5 -0.0634920634920635 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTAAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 325 592 0.0122993102727005 0 0.00614965513635025 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.791273774759439 -0.845892056151106 0.845059436417717 0.824732570591623 NA -0.818582915455273 NA TRUE NA 0.94 2.333 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003548385 splice_region_variant 1.368624 0.29175 0.61616 0.099367 0.743775471266414 0.45636 0.99975494444276 TRUE 4.06745e-06 ENSE00001086635_011 ENSE00001086635 011 7 94056257 94056426 + 63 54 53 T C 94056322 1949 66 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGCCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427009 94427010 94427010 exon 3 0.0555555555555556 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGCCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 76 301 0.845663138853844 0.949419244850329 0.897541191852087 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA 0.0420900538217045 0.103527188699223 0.845059436417717 0.824732570591623 NA 0.0728086212604638 NA FALSE NA 0.984 0.827 rs140699496 downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA GTC T,C 2.471e-05 7:94427010 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 splice_region_variant 1.05102 0.89575 0.69859 0.706548 0.737997469099216 0 0.99975494444276 TRUE 2.03333e-05 ENSE00001086635_012 ENSE00001086635 012 7 94056257 94056426 + 63 54 53 G A 94056332 1950 76 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTAATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427019 94427020 94427020 exon 13 0.240740740740741 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTAATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 589 310 0.0588614721072585 0.0512175256000569 0.0550394988536577 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.744711612924881 -0.794674530551049 0.845059436417717 0.824732570591623 NA -0.769693071737965 NA TRUE NA 1 9.075 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 COSM748471 1 NA TGA G,A 8.236e-06 7:94427020 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 missense_variant 5.588784 0.97597 0.97975 0.706548 0.997992517224917 0 0.99975494444276 TRUE 8.1318e-06 ENSE00001086635_013 ENSE00001086635 013 7 94056257 94056426 + 63 54 53 A G 94056337 1951 81 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAGGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427024 94427025 94427025 exon 18 0.333333333333333 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAGGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 15 596 0 0 0 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.80357308503214 -0.845892056151106 0.845059436417717 0.824732570591623 NA -0.824732570591623 NA TRUE NA 1 4.372 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94427025 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 synonymous_variant 0.237907 0.94364 0.8859 0.706548 0.662864347202802 0 0.99975494444276 TRUE 2.03297e-05 ENSE00001086635_014 ENSE00001086635 014 7 94056257 94056426 + 63 54 53 A C 94056337 1952 81 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCACGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427024 94427025 94427025 exon 18 0.333333333333333 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCACGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 170 501 0.112627970049334 0.0298769534742569 0.0712524617617956 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.690945114982805 -0.816015102676849 0.845059436417717 0.824732570591623 NA -0.753480108829827 NA TRUE NA 1 4.372 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003548385 missense_variant 4.123959 0.94495 0.90138 0.706548 0.994605996890493 0 0.99975494444276 TRUE 4.06593e-06 ENSE00001086635_017 ENSE00001086635 017 7 94056257 94056426 + 63 54 53 C T 94056351 1955 95 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTTCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427038 94427039 94427039 exon -23 0.592592592592593 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTTCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 14 16 0.95 0.940283741200428 0.945141870600214 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA 0.14642691496786 0.0943916850493214 0.845059436417717 0.824732570591623 NA 0.120409300008591 NA FALSE NA 0.032 2.965 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs553758143 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCC C,T 8.236e-06 7:94427039 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 missense_variant 2.240301 0.40413 0.30943 0.706548 0.979333115391036 0 0.99975494444276 TRUE 4.0656e-06 ENSE00001086635_018 ENSE00001086635 018 7 94056257 94056426 + 63 54 53 C T 94056352 1956 96 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCTGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427039 94427040 94427040 exon -22 0.611111111111111 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCTGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 26 107 0.0118146034354626 0 0.00590730171773128 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.791758481596677 -0.845892056151106 0.845059436417717 0.824732570591623 NA -0.818825268873892 NA TRUE NA 0 -1.332 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA CCG C,T 1.647e-05 7:94427040 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 synonymous_variant 2.310069 0.23107 0.04147 0.706548 0.459239256977349 0 0.99975494444276 TRUE 1.21974e-05 ENSE00001086635_019 ENSE00001086635 019 7 94056257 94056426 + 63 54 53 G A 94056353 1957 97 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCATGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427040 94427041 94427041 exon -21 0.62962962962963 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCATGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 126 351 0.0177777279610436 0.0209578968124714 0.0193678123867575 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.785795357071096 -0.824934159338635 0.845059436417717 0.824732570591623 NA -0.805364758204866 NA TRUE NA 0.257 1.859 rs35820023 downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs35820023 1 A:0.0010 A:0.0038 A:0 NA A:0 A:0 A:0 A:0.0039 A:0 CGT G,A 0.0004695 7:94427041 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 missense_variant 3.48051 0.85937 0.51477 0.706548 0.991397559384746 0 0.99975494444276 TRUE 0.000357773 ENSE00001086635_020 ENSE00001086635 020 7 94056257 94056426 + 63 54 53 T C 94056358 1958 102 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGCCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427045 94427046 94427046 exon -16 0.722222222222222 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGCCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 358 562 0.00939193811799455 0.00808494077862032 0.00873843944830744 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.794181146914145 -0.837807115372486 0.845059436417717 0.824732570591623 NA -0.815994131143316 NA TRUE NA 1 0.466 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94427046 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 synonymous_variant 0.333179 0.91072 0.72283 0.706548 0.77462520425015 0 0.99975494444276 TRUE 0.000272418 ENSE00001086635_021 ENSE00001086635 021 7 94056257 94056426 + 63 54 53 T G 94056358 1959 102 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGGCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427045 94427046 94427046 exon -16 0.722222222222222 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGGCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 362 144 0 0 0 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.80357308503214 -0.845892056151106 0.845059436417717 0.824732570591623 NA -0.824732570591623 NA TRUE NA 1 0.466 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003548385 synonymous_variant 0.845668 0.91196 0.78737 0.706548 0.759975824228666 0 0.99975494444276 TRUE 8.13187e-06 ENSE00001086635_022 ENSE00001086635 022 7 94056257 94056426 + 63 54 53 C T 94056360 1960 104 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCTTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427047 94427048 94427048 exon -14 0.759259259259259 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCTTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 505 316 0.00784368084261036 0.204409985178708 0.106126833010659 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.795729404189529 -0.641482070972399 0.845059436417717 0.824732570591623 NA -0.718605737580964 NA TRUE NA 1 5.497 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA CCT C,T 1.647e-05 7:94427048 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 missense_variant 5.615783 0.96353 0.94951 0.706548 0.997329352252133 0 0.99975494444276 TRUE 1.21967e-05 ENSE00001086635_023 ENSE00001086635 023 7 94056257 94056426 + 63 54 53 A G 94056371 1961 115 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTGGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427058 94427059 94427059 exon -3 0.962962962962963 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTGGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 426 356 0.80415280689324 0.623197031855247 0.713674919374243 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA 0.000579721861099891 -0.22269502429586 0.845059436417717 0.824732570591623 NA -0.11105765121738 NA FALSE NA 0.997 3.664 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TAG A,G 8.236e-06 7:94427059 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 missense_variant 4.094944 0.93112 0.93088 0.706548 0.990413820884713 0 0.99975494444276 TRUE 4.0663e-06 ENSE00001086635_025 ENSE00001086635 025 7 94056257 94056426 + 63 54 53 G A 94056381 1963 125 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGAACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427068 94427069 94427069 downstr_intron 8 1.15384615384615 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGAACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 10 750 0.8 0.680900263628086 0.740450131814043 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.0035730850321396 -0.16499179252302 0.845059436417717 0.824732570591623 NA -0.0842824387775798 NA FALSE NA 0 -0.023 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA GGA G,A 8.236e-06 7:94427069 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 splice_region_variant -0.577317 0.21739 0.05675 0.062308 0.375444732708989 0.13426 0.99975494444276 TRUE 4.06666e-06 ENSE00001086635_027 ENSE00001086635 027 7 94056257 94056426 + 63 54 53 A G 94056396 1965 140 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACGGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427083 94427084 94427084 downstr_intron 23 1.44230769230769 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACGGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 49 243 0.942142661949295 0.987319239327817 0.964730950638556 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA 0.138569576917156 0.14142718317671 0.845059436417717 0.824732570591623 NA 0.139998380046933 NA FALSE NA 0 -1.541 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA CAG A,G 1.647e-05 7:94427084 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 intron_variant -0.487521 0.36707 0.198 0.062308 0.28286078525832 0.0669843 0.99975494444276 TRUE 1.22023e-05 ENSE00001086635_028 ENSE00001086635 028 7 94056257 94056426 + 63 54 53 A G 94056401 1966 145 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCGTCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 94427088 94427089 94427089 downstr_intron 28 1.53846153846154 AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCGTCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG mutant NA NA NA NA NA 23 387 0.8 0.8 0.8 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 NA NA -0.00357308503213949 -0.0458920561511063 0.845059436417717 0.824732570591623 NA -0.0247325705916229 NA FALSE NA 0 -1.041 . downstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA CAT A,G 1.647e-05 7:94427089 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003548385 intron_variant -0.139837 0.24432 0.15821 0.062308 0.292225667468225 0.0669843 0.99975494444276 TRUE 4.88194e-05 ENSE00001086635_BRK ENSE00001086635 BRK 7 94056257 94056426 + 63 54 53 A,G; T,T NA NA NA AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAATTGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGCCAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG 94426944 94427114 NA NA NA NA NA NA AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAATTGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGCCAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG AAAAAAAAATATGTCTCTTGACATGTGCTCTGAAAGTGTGATTTTCCTCTTCTGTCTTTAAAGGGTCACCATGGTGATCAAGGTGCTCCTGGCTCCGTGGGTCCTGCTGGTCCTAGGGTAGGTGGACTCAAGAGAAGACAGTTCATCTCTGAAATAGAGGCTAAAGCGAG control 290 169 0 0 0 179 1232 0 0 0 0.84619740015487 0.843921472680563 0.80357308503214 0.845892056151106 -0.84619740015487 -0.843921472680563 -0.80357308503214 -0.845892056151106 0.845059436417717 0.824732570591623 -0.845059436417717 -0.824732570591623 0.0203268658260937 TRUE TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003548385 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086642_000 ENSE00001086642 000 7 94040138 94040307 + 63 54 53 NA NA NA NA NA ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 NA NA NA NA NA NA ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG natural 52 81 0.913805303167441 0.968144802986802 0.940975053077121 1652 2832 0.96237621303583 0.994986913239248 0.978681563137539 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 0 0 0 0 0.940975053077121 0.978681563137539 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086642 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086642_001 ENSE00001086642 001 7 94040138 94040307 + 63 54 53 C A 94040150 1695 13 ACTCTACCTTATAAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410837 94410838 94410838 upstr_intron -51 -0.793650793650794 ACTCTACCTTATAAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 260 308 1 1 1 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0376237869641698 0.00501308676075207 0.940975053077121 0.978681563137539 NA 0.0213184368624609 NA FALSE NA 0 -1.901 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TCA C,A 8.237e-06 7:94410838 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 intron_variant 0.285457 0.2249 0.12429 0.088506 0.416049838506765 0.0548883 0.99975494444276 TRUE 4.06607e-06 ENSE00001086642_002 ENSE00001086642 002 7 94040138 94040307 + 63 54 53 T C 94040177 1696 40 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCCCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410864 94410865 94410865 upstr_intron -24 -0.365079365079365 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCCCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 36 184 1 0.999792901532172 0.999896450766086 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0376237869641698 0.00480598829292433 0.940975053077121 0.978681563137539 NA 0.0212148876285471 NA FALSE NA 0 0.992 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTC T,C 8.236e-06 7:94410865 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 intron_variant 0.348156 0.27759 0.28255 0.088506 0.519848559065007 0.174917 0.99975494444276 TRUE 4.06108e-06 ENSE00001086642_006 ENSE00001086642 006 7 94040138 94040307 + 63 54 53 T C 94040209 1700 72 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCCGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410896 94410897 94410897 exon 9 0.166666666666667 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCCGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 1943 103 0.999618129339798 1 0.999809064669899 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0372419163039679 0.00501308676075207 0.940975053077121 0.978681563137539 NA 0.02112750153236 NA FALSE NA 1 1.69 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTG T,C 8.236e-06 7:94410897 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 synonymous_variant 0.652372 0.93779 0.88223 0.706548 0.783998256488728 0 0.99975494444276 TRUE 4.06068e-06 ENSE00001086642_007 ENSE00001086642 007 7 94040138 94040307 + 63 54 53 C T 94040216 1701 79 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTTGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410903 94410904 94410904 exon 16 0.296296296296296 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTTGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 696 705 0.996944849912288 0.989807447606448 0.993376148759368 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0345686368764577 -0.00517946563279981 0.940975053077121 0.978681563137539 NA 0.014694585621829 NA FALSE NA 1 7.487 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 COSM2150784 1 NA TCG C,T 1.647e-05 7:94410904 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 missense_variant 8.621209 0.97694 0.97901 0.706548 0.998103801906671 0 0.99975494444276 TRUE 1.21821e-05 ENSE00001086642_010 ENSE00001086642 010 7 94040138 94040307 + 63 54 53 C T 94040248 1704 111 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGTGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410935 94410936 94410936 exon -7 0.888888888888889 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGTGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 372 84 0.987832281006571 0.990467489223411 0.989149885114991 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0254560679707404 -0.00451942401583738 0.940975053077121 0.978681563137539 NA 0.0104683219774515 NA FALSE NA 1 0.963 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 COSM1330450 1 NA GCG C,T 8.236e-06 7:94410936 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 synonymous_variant 2.062675 0.90534 0.49144 0.706548 0.596473123045201 0 0.99975494444276 TRUE 8.12176e-06 ENSE00001086642_011 ENSE00001086642 011 7 94040138 94040307 + 63 54 53 G A 94040249 1705 112 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCATCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410936 94410937 94410937 exon -6 0.907407407407407 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCATCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 124 120 0.990454167424242 1 0.995227083712121 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0280779543884122 0.00501308676075207 0.940975053077121 0.978681563137539 NA 0.0165455205745821 NA FALSE NA 1 5.819 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs550867796&COSM198533 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 5.765e-05 7:94410937 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 missense_variant 5.228931 0.9651 0.9386 0.706548 0.997712296104687 0 0.99975494444276 TRUE 8.52764e-05 ENSE00001086642_013 ENSE00001086642 013 7 94040138 94040307 + 63 54 53 G C 94040262 1707 125 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTCTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410949 94410950 94410950 downstr_intron 8 1.15384615384615 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTCTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 143 50 1 1 1 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0376237869641698 0.00501308676075207 0.940975053077121 0.978681563137539 NA 0.0213184368624609 NA FALSE NA 0 -0.024 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TGT G,C 8.236e-06 7:94410950 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 splice_region_variant 0.181363 0.34555 0.28246 0.088506 0.460538073156313 0.144473 0.99975494444276 TRUE 4.06114e-06 ENSE00001086642_014 ENSE00001086642 014 7 94040138 94040307 + 63 54 53 C T 94040268 1708 131 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATTACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410955 94410956 94410956 downstr_intron 14 1.26923076923077 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATTACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 47 184 1 1 1 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0376237869641698 0.00501308676075207 0.940975053077121 0.978681563137539 NA 0.0213184368624609 NA FALSE NA 0 0.333 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TCA C,T 8.236e-06 7:94410956 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 intron_variant 0.198754 0.2666 0.12866 0.088506 0.341603865346634 0.146393 0.99975494444276 TRUE 4.06184e-06 ENSE00001086642_016 ENSE00001086642 016 7 94040138 94040307 + 63 54 53 G A 94040287 1710 150 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGAGCTTGCTGCTTCTGGTGGTG 94410825 94410995 94410974 94410975 94410975 downstr_intron 33 1.63461538461538 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGAGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 319 176 1 1 1 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0376237869641698 0.00501308676075207 0.940975053077121 0.978681563137539 NA 0.0213184368624609 NA FALSE NA 0 -0.241 rs34026686 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs34026686 1 A:0.1524 A:0.093 A:0.3372 NA A:0.12 A:0.1819 A:0.1043 A:0.1205 A:0.1876 GGG A,A 0.176 7:94410975 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 intron_variant 0.184264 0.16313 0.01583 0.088506 0.42491283473288 0.111187 0.99975494444276 TRUE 0.185148 ENSE00001086642_017 ENSE00001086642 017 7 94040138 94040307 + 63 54 53 G A 94040288 1711 151 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGACTTGCTGCTTCTGGTGGTG 94410825 94410995 94410975 94410976 94410976 downstr_intron 34 1.65384615384615 ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGACTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG mutant NA NA NA NA NA 492 23 0.994978484795502 1 0.997489242397751 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA 0.0326022717596717 0.00501308676075207 0.940975053077121 0.978681563137539 NA 0.0188076792602119 NA FALSE NA 0 -0.439 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GGC G,A 8.236e-06 7:94410976 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086642 intron_variant -0.051603 0.13197 0.01902 0.088506 0.494885868273057 0.1685 0.99975494444276 TRUE NA ENSE00001086642_BRK ENSE00001086642 BRK 7 94040138 94040307 + 63 54 53 A,G; T,T NA NA NA ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCTTGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGCCAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG 94410825 94410995 NA NA NA NA NA NA ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCTTGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGCCAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG ACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAGGGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATGGTAAGCTGTCTATCACTTACTTCCTAGAAAGGGGCTTGCTGCTTCTGGTGGTG control NA NA NA NA NA 205 64 0 0 0 0.913805303167441 0.968144802986802 0.96237621303583 0.994986913239248 NA NA -0.96237621303583 -0.994986913239248 0.940975053077121 0.978681563137539 NA -0.978681563137539 NA TRUE NA NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086642 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086665_000 ENSE00001086665 000 7 94042939 94043108 + 63 54 53 NA NA NA NA NA TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 NA NA NA NA NA NA TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT natural 77 87 0.868065548069135 0.955702462853737 0.911884005461436 5073 9632 0.894246958346319 0.982708462462244 0.938477710404281 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 0 0 0 0 0.911884005461436 0.938477710404281 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086665 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086665_002 ENSE00001086665 002 7 94042939 94043108 + 63 54 53 G A 94042960 1760 22 TTGAGACATCTTAAACTACCTAGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413647 94413648 94413648 upstr_intron -42 -0.650793650793651 TTGAGACATCTTAAACTACCTAGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 3128 1121 0.998353194473743 0.94915970153231 0.973756448003026 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.104106236127424 -0.0335487609299342 0.911884005461436 0.938477710404281 NA 0.0352787375987451 NA FALSE NA 0 -0.422 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94413648 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 intron_variant 0.003901 0.1796 0.05248 0.062308 0.216702937386103 0.046323 0.99975494444276 TRUE 0.000512091 ENSE00001086665_003 ENSE00001086665 003 7 94042939 94043108 + 63 54 53 G T 94042960 1761 22 TTGAGACATCTTAAACTACCTTGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413647 94413648 94413648 upstr_intron -42 -0.650793650793651 TTGAGACATCTTAAACTACCTTGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 628 551 0.832497120558664 0.945833176525159 0.889165148541911 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA -0.0617498377876547 -0.036875285937085 0.911884005461436 0.938477710404281 NA -0.0493125618623699 NA FALSE NA 0 -0.422 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086665 intron_variant -0.165681 0.19089 0.09226 0.062308 0.425396180646836 0.046323 0.99975494444276 TRUE 1.62569e-05 ENSE00001086665_004 ENSE00001086665 004 7 94042939 94043108 + 63 54 53 C G 94042966 1762 28 TTGAGACATCTTAAACTACCTGGCTTGGAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413653 94413654 94413654 upstr_intron -36 -0.555555555555556 TTGAGACATCTTAAACTACCTGGCTTGGAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 434 1550 1 0.995492020777893 0.997746010388947 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.105753041653681 0.0127835583156496 0.911884005461436 0.938477710404281 NA 0.0592682999846654 NA FALSE NA 0 -0.233 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GCA C,G 8.236e-06 7:94413654 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 intron_variant 0.061091 0.16509 0.06425 0.062308 0.462078788920842 0.0490032 0.99975494444276 TRUE 4.06359e-06 ENSE00001086665_005 ENSE00001086665 005 7 94042939 94043108 + 63 54 53 T C 94042986 1763 48 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCCGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413673 94413674 94413674 upstr_intron -16 -0.238095238095238 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCCGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 1638 1409 0.844885130657469 0.943935085545259 0.894410108101364 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA -0.0493618276888497 -0.038773376916985 0.911884005461436 0.938477710404281 NA -0.0440676023029173 NA FALSE NA 0.069 1.914 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTG T,C 8.236e-06 7:94413674 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 intron_variant 0.809955 0.25379 0.59207 0.062308 0.804797789742818 0.160706 0.99975494444276 TRUE 4.06128e-06 ENSE00001086665_006 ENSE00001086665 006 7 94042939 94043108 + 63 54 53 T C 94042988 1764 50 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGCTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413675 94413676 94413676 upstr_intron -14 -0.206349206349206 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGCTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 2046 287 0.999250181738092 0.985455832425739 0.992353007081916 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.105003223391773 0.00274736996349534 0.911884005461436 0.938477710404281 NA 0.0538752966776344 NA FALSE NA 0.006 0.952 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GTT T,C 1.647e-05 7:94413676 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 intron_variant 0.62014 0.22369 0.17647 0.062308 0.727242112426546 0.160706 0.99975494444276 TRUE 1.62447e-05 ENSE00001086665_007 ENSE00001086665 007 7 94042939 94043108 + 63 54 53 C T 94043006 1765 68 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGTTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413693 94413694 94413694 exon 5 0.0925925925925926 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGTTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 317 640 0.999516244139841 1 0.999758122069921 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.105269285793522 0.0172915375377561 0.911884005461436 0.938477710404281 NA 0.0612804116656393 NA FALSE NA 1 4.903 rs140434765 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs140434765&COSM453593 1 NA T:0 T:0.0001 GCT C,T 1.647e-05 7:94413694 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 missense_variant 3.582048 0.94809 0.94508 0.706548 0.993110291194734 0 0.99975494444276 TRUE 8.12189e-06 ENSE00001086665_008 ENSE00001086665 008 7 94042939 94043108 + 63 54 53 T C 94043007 1766 69 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCCCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413694 94413695 94413695 exon 6 0.111111111111111 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCCCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 869 578 0.99594583109874 0.999726282263541 0.99783605668114 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.101698872752421 0.0170178198012971 0.911884005461436 0.938477710404281 NA 0.0593583462768591 NA FALSE NA 0.981 -0.211 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTC T,C 8.236e-06 7:94413695 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 synonymous_variant 0.527864 0.89996 0.42151 0.706548 0.752246809452284 0 0.99975494444276 TRUE 8.12203e-06 ENSE00001086665_010 ENSE00001086665 010 7 94042939 94043108 + 63 54 53 G T 94043017 1768 79 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTTATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413704 94413705 94413705 exon 16 0.296296296296296 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTTATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 570 1441 0.976899997875575 0.989818488409842 0.983359243142708 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.0826530395292561 0.00711002594759769 0.911884005461436 0.938477710404281 NA 0.0448815327384269 NA FALSE NA 1 9.822 rs147074348 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs147074348&COSM3778702 1 NA T:0 T:0.0001 TGA G,T 8.236e-06 7:94413705 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 missense_variant 5.515453 0.97536 0.98825 0.706548 0.985097843143602 0 0.99975494444276 TRUE 4.06085e-06 ENSE00001086665_011 ENSE00001086665 011 7 94042939 94043108 + 63 54 53 A G 94043027 1769 89 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAGTGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413714 94413715 94413715 exon 26 0.481481481481481 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAGTGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 1970 988 0.998362422284996 1 0.999181211142498 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.104115463938677 0.0172915375377561 0.911884005461436 0.938477710404281 NA 0.0607035007382166 NA FALSE NA 1 4.149 rs41317144 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1/5 rs41317144 1 NA G:0 G:0.0001 AAT A,G 4.118e-05 7:94413715 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 missense_variant 1.763276 0.9525 0.95034 0.706548 0.754572805614168 0 0.99975494444276 TRUE 8.5275e-05 ENSE00001086665_012 ENSE00001086665 012 7 94042939 94043108 + 63 54 53 G T 94043032 1770 94 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTTCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413719 94413720 94413720 exon -24 0.574074074074074 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTTCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 257 688 0.99215591407311 0.994802738854265 0.993479326463687 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.0979089557267907 0.0120942763920212 0.911884005461436 0.938477710404281 NA 0.055001616059406 NA FALSE NA 1 6.274 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1/5 1 NA TGC G,T 8.236e-06 7:94413720 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 missense_variant 3.258712 0.94995 0.96477 0.706548 0.988497396942053 0 0.99975494444276 TRUE 4.06085e-06 ENSE00001086665_013 ENSE00001086665 013 7 94042939 94043108 + 63 54 53 A G 94043054 1771 116 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACGGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 94413741 94413742 94413742 exon -2 0.981481481481482 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACGGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 287 429 0.999465636095945 1 0.999732818047973 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.105218677749626 0.0172915375377561 0.911884005461436 0.938477710404281 NA 0.0612551076436913 NA FALSE NA 0.944 2.199 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW COL1A2 HGNC 2198 ENST00000488298 1/5 rs200267911 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAG A,G 4.118e-05 7:94413742 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 missense_variant 1.43785 0.93516 0.72902 0.706548 0.960864065964847 0 0.99975494444276 TRUE 4.4669e-05 ENSE00001086665_014 ENSE00001086665 014 7 94042939 94043108 + 63 54 53 G T 94043093 1772 155 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTATAATGTATATAGTCCT 94413626 94413796 94413780 94413781 94413781 downstr_intron 38 1.73076923076923 TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTATAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT mutant NA NA NA NA NA 5899 1028 0.998163681225277 0.990848941526238 0.994506311375758 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 NA NA 0.103916722878958 0.00814047906399462 0.911884005461436 0.938477710404281 NA 0.0560286009714765 NA FALSE NA 0.001 0.127 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1/4 1 NA AGA G,T 8.236e-06 7:94413781 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086665 intron_variant -0.113058 0.18711 0.1255 0.062308 0.637707098177149 0.0492215 0.99975494444276 TRUE 4.06131e-06 ENSE00001086665_BRK ENSE00001086665 BRK 7 94042939 94043108 + 63 54 53 A,G; T,T NA NA NA TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTTTGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGCCGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT 94413626 94413796 NA NA NA NA NA NA TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTTTGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGCCGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT TTGAGACATCTTAAACTACCTGGCTTGCAGCTAACCATCAGCCTTTCTGTTAAATATTTTTAGGGTGCTCCAGGTCCTGATGGAAACAATGGTGCTCAGGGACCTCCTGGACCACAGGTGAGTATTTCTCCCACTCTTGTGCTCTTCTGCACTAGAATGTATATAGTCCT control 11 45 0.217845979841469 0.120631874852375 0.169238927346922 184 245 0.0116830546771229 0 0.00584152733856147 0.868065548069135 0.955702462853737 0.894246958346319 0.982708462462244 -0.650219568227666 -0.835070588001363 -0.882563903669196 -0.982708462462244 0.911884005461436 0.938477710404281 -0.742645078114514 -0.93263618306572 0.189991104951206 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001086665 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001086678_000 ENSE00001086678 000 7 94035499 94035668 + 63 54 53 NA NA NA NA NA ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 NA NA NA NA NA NA ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT natural 33 15 0.996053910288464 1 0.998026955144232 6277 3765 0.934909826625367 0.971370590022777 0.953140208324072 0.996053910288464 1 0.934909826625367 0.971370590022777 0 0 0 0 0.998026955144232 0.953140208324072 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086678 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086678_001 ENSE00001086678 001 7 94035499 94035668 + 63 54 53 G A 94035529 1562 31 ACAATTTTTATTTGACCAAACACTATCATGAAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 94406216 94406217 94406217 upstr_intron -33 -0.507936507936508 ACAATTTTTATTTGACCAAACACTATCATGAAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT mutant NA NA NA NA NA 179 576 0.999769866096525 0.994178807466762 0.996974336781643 0.996053910288464 1 0.934909826625367 0.971370590022777 NA NA 0.0648600394711583 0.0228082174439852 0.998026955144232 0.953140208324072 NA 0.0438341284575717 NA FALSE NA 0 -0.991 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 11/51 1 NA GGA G 1.647e-05 7:94406217 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086678 intron_variant 1.000021 0.2026 0.05313 0.088506 0.681340042362336 0.0471652 0.99975494444276 TRUE 8.12922e-06 ENSE00001086678_002 ENSE00001086678 002 7 94035499 94035668 + 63 54 53 G A 94035534 1563 36 ACAATTTTTATTTGACCAAACACTATCATGGAACAACATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 94406221 94406222 94406222 upstr_intron -28 -0.428571428571429 ACAATTTTTATTTGACCAAACACTATCATGGAACAACATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT mutant NA NA NA NA NA 55 166 0.973927222401584 0.998582901267504 0.986255061834544 0.996053910288464 1 0.934909826625367 0.971370590022777 NA NA 0.0390173957762177 0.027212311244727 0.998026955144232 0.953140208324072 NA 0.0331148535104723 NA FALSE NA 0 -0.524 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 11/51 rs370629424 1 NA A:0.0002 A:0 AGC G 1.647e-05 7:94406222 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086678 intron_variant 1.190166 0.18722 0.01446 0.088506 0.751160763478193 0.0471652 0.99975494444276 TRUE 4.06375e-06 ENSE00001086678_003 ENSE00001086678 003 7 94035499 94035668 + 63 54 53 A G 94035543 1564 45 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATGATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 94406230 94406231 94406231 upstr_intron -19 -0.285714285714286 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATGATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT mutant NA NA NA NA NA 163 466 1 0.996409188525264 0.998204594262632 0.996053910288464 1 0.934909826625367 0.971370590022777 NA NA 0.0650901733746332 0.0250385985024874 0.998026955144232 0.953140208324072 NA 0.0450643859385603 NA FALSE NA 0.043 0.659 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 11/51 1 NA TAA A 2.471e-05 7:94406231 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086678 intron_variant 1.075597 0.75092 0.58994 0.088506 0.844667688090483 0.878553 0.99975494444276 TRUE 1.2187e-05 ENSE00001086678_005 ENSE00001086678 005 7 94035499 94035668 + 63 54 53 G C 94035594 1566 96 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACACCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 94406281 94406282 94406282 exon -22 0.611111111111111 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACACCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT mutant NA NA NA NA NA 850 1513 0.997107988959841 0.948580502285118 0.97284424562248 0.996053910288464 1 0.934909826625367 0.971370590022777 NA NA 0.0621981623344745 -0.0227900877376587 0.998026955144232 0.953140208324072 NA 0.0197040372984079 NA FALSE NA 0.554 0.49 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 12/52 1 unknown(0) NA AGC G 8.236e-06 7:94406282 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086678 missense_variant 3.451219 0.9115 0.66609 0.706548 0.99236094907162 0 0.99975494444276 TRUE 4.06171e-06 ENSE00001086678_013 ENSE00001086678 013 7 94035499 94035668 + 63 54 53 A T 94035620 1574 122 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAATTATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 94406307 94406308 94406308 downstr_intron 5 1.09615384615385 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAATTATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT mutant NA NA NA NA NA 39 289 0.947683540129474 0.996638441651716 0.972160990890595 0.996053910288464 1 0.934909826625367 0.971370590022777 NA NA 0.0127737135041075 0.0252678516289395 0.998026955144232 0.953140208324072 NA 0.0190207825665235 NA FALSE NA 0.29 0.478 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94406308 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086678 splice_region_variant 1.569245 0.94658 0.4112 0.088506 0.955937241797813 0.966379 0.99975494444276 TRUE 0.00369302 ENSE00001086678_015 ENSE00001086678 015 7 94035499 94035668 + 63 54 53 A G 94035625 1576 127 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTGAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 94406312 94406313 94406313 downstr_intron 10 1.19230769230769 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTGAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT mutant NA NA NA NA NA 285 423 1 0.998455711614589 0.999227855807295 0.996053910288464 1 0.934909826625367 0.971370590022777 NA NA 0.0650901733746332 0.0270851215918125 0.998026955144232 0.953140208324072 NA 0.0460876474832229 NA FALSE NA 0.002 -0.34 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 12/51 1 NA TAA A 8.236e-06 7:94406313 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086678 intron_variant 2.313746 0.48361 0.10057 0.088506 0.852856776397186 0.229924 0.99975494444276 TRUE 4.06293e-06 ENSE00001086678_016 ENSE00001086678 016 7 94035499 94035668 + 63 54 53 G A 94035631 1577 133 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAAAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 94406318 94406319 94406319 downstr_intron 16 1.30769230769231 ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAAAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT mutant NA NA NA NA NA 113 68 1 1 1 0.996053910288464 1 0.934909826625367 0.971370590022777 NA NA 0.0650901733746332 0.0286294099772234 0.998026955144232 0.953140208324072 NA 0.0468597916759283 NA FALSE NA 0.01 0.727 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 12/51 1 NA AGA G 8.236e-06 7:94406319 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086678 intron_variant 2.318596 0.42346 0.20854 0.088506 0.846629047279237 0.213507 0.99975494444276 TRUE 4.06415e-06 ENSE00001086678_BRK ENSE00001086678 BRK 7 94035499 94035668 + 63 54 53 A,G; T,T NA NA NA ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCTTGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGCCAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT 94406186 94406356 NA NA NA NA NA NA ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCTTGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGCCAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT ACAATTTTTATTTGACCAAACACTATCATGGAACAGCATTTTATAATAAGGCTTTCCTTTCAGGGACACAATGGTCTGGATGGATTGAAGGGACAGCCCGGTGCTCCTGGTGTGAAGGTAAATATTAAATTAGAAGCACTGTTTTTAAGCACTTGATTGAAATTCCCCAT control 28 27 0 0 0 NA NA NA NA NA 0.996053910288464 1 0.934909826625367 0.971370590022777 -0.996053910288464 -1 NA NA 0.998026955144232 0.953140208324072 -0.998026955144232 NA NA NA TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086678 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086684_000 ENSE00001086684 000 7 94038808 94038977 + 68 45 57 NA NA NA NA NA GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 NA NA NA NA NA NA GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG natural 94 107 0.990550904007762 0.959300089225732 0.974925496616747 3153 3805 0.901051667468907 0.98145022107967 0.941250944274289 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 0 0 0 0 0.974925496616747 0.941250944274289 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086684 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086684_001 ENSE00001086684 001 7 94038808 94038977 + 68 45 57 C G 94038826 1618 19 GATGGGGTCAAAGAAGAAGCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409513 94409514 94409514 upstr_intron -50 -0.720588235294118 GATGGGGTCAAAGAAGAAGCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 331 1001 0.993842450797635 0.966781934946084 0.980312192871859 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0927907833287283 -0.0146682861335866 0.974925496616747 0.941250944274289 NA 0.0390612485975708 NA FALSE NA 0 -0.41 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA ACC C,G 8.236e-06 7:94409514 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant -0.024195 0.1818 0.11634 0.062308 0.417680219613011 0.0738372 0.99975494444276 TRUE 4.06164e-06 ENSE00001086684_002 ENSE00001086684 002 7 94038808 94038977 + 68 45 57 G A 94038828 1619 21 GATGGGGTCAAAGAAGAACCAAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409515 94409516 94409516 upstr_intron -48 -0.691176470588235 GATGGGGTCAAAGAAGAACCAAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 908 524 0.994524362812329 0.999040218342443 0.996782290577386 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.093472695343422 0.0175899972627723 0.974925496616747 0.941250944274289 NA 0.0555313463030971 NA FALSE NA 0 -0.38 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CGA G,A 4.118e-05 7:94409516 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.010242 0.25259 0.23477 0.062308 0.483768500898515 0.0386449 0.99975494444276 TRUE 2.4369e-05 ENSE00001086684_003 ENSE00001086684 003 7 94038808 94038977 + 68 45 57 T C 94038845 1620 38 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACCGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409532 94409533 94409533 upstr_intron -31 -0.441176470588235 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACCGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 350 2405 0.988856889535064 0.835891093142294 0.912373991338679 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0878052220661572 -0.145559127937376 0.974925496616747 0.941250944274289 NA -0.0288769529356096 NA FALSE NA 0 -0.823 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTG T,C 3.295e-05 7:94409533 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.164992 0.22662 0.14523 0.062308 0.489996132682003 0.0863119 0.99975494444276 TRUE 2.43651e-05 ENSE00001086684_004 ENSE00001086684 004 7 94038808 94038977 + 68 45 57 A G 94038849 1621 42 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATGTCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409536 94409537 94409537 upstr_intron -27 -0.382352941176471 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATGTCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 846 400 0.923730635815386 0.999221788586248 0.961476212200817 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0226789683464795 0.0177715675065774 0.974925496616747 0.941250944274289 NA 0.0202252679265285 NA FALSE NA 0 -0.206 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TAT A,G 8.236e-06 7:94409537 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.241898 0.27221 0.15516 0.062308 0.507191325457082 0.0840141 0.99975494444276 TRUE 8.1217e-06 ENSE00001086684_006 ENSE00001086684 006 7 94038808 94038977 + 68 45 57 C T 94038852 1623 45 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCTTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409539 94409540 94409540 upstr_intron -24 -0.338235294117647 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCTTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 1405 432 0.996168748861091 0.998846485151367 0.997507617006229 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0951170813921844 0.0173962640716964 0.974925496616747 0.941250944274289 NA 0.0562566727319404 NA FALSE NA 0 -1.106 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CCT C,T 8.236e-06 7:94409540 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.579078 0.21867 0.06609 0.062308 0.740008681633311 0.109912 0.99975494444276 TRUE 8.12163e-06 ENSE00001086684_007 ENSE00001086684 007 7 94038808 94038977 + 68 45 57 T G 94038856 1624 49 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCGCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409543 94409544 94409544 upstr_intron -20 -0.279411764705882 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCGCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 363 276 0.998731122488195 0.996274145955964 0.997502634222079 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0976794550192878 0.0148239248762936 0.974925496616747 0.941250944274289 NA 0.0562516899477907 NA FALSE NA 0.003 0.314 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTC T,G 1.647e-05 7:94409544 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.3429 0.32177 0.3543 0.062308 0.619312654796608 0.217953 0.99975494444276 TRUE 4.87282e-05 ENSE00001086684_008 ENSE00001086684 008 7 94038808 94038977 + 68 45 57 C G 94038863 1625 56 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCGTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409550 94409551 94409551 upstr_intron -13 -0.176470588235294 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCGTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 1954 1099 1 1 1 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0989483325310931 0.0185497789203297 0.974925496616747 0.941250944274289 NA 0.0587490557257114 NA FALSE NA 0 -0.11 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs200532328 1 G:0.0014 G:0 G:0 NA G:0.0069 G:0 G:0 G:0.0002 G:0 CCT C,G 0.0006177 7:94409551 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.328727 0.31053 0.18759 0.062308 0.540282083202757 0.230345 0.99975494444276 TRUE 0.000588799 ENSE00001086684_009 ENSE00001086684 009 7 94038808 94038977 + 68 45 57 C T 94038868 1626 61 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTTCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409555 94409556 94409556 upstr_intron -8 -0.102941176470588 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTTCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 181 2244 0.986110359825667 0.885977736536499 0.936044048181083 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0850586923567601 -0.0954724845431714 0.974925496616747 0.941250944274289 NA -0.00520689609320563 NA FALSE NA 0 -0.007 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TCC C,T 8.236e-06 7:94409556 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 splice_region_variant 0.491892 0.26831 0.15147 0.062308 0.426583093972874 0.226496 0.99975494444276 TRUE 4.06068e-06 ENSE00001086684_010 ENSE00001086684 010 7 94038808 94038977 + 68 45 57 C T 94038869 1627 62 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCTTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409556 94409557 94409557 upstr_intron -7 -0.0882352941176471 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCTTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 963 183 0.995317750630282 0.964856308326272 0.980087029478277 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0942660831613749 -0.0165939127533986 0.974925496616747 0.941250944274289 NA 0.0388360852039881 NA FALSE NA 0 -0.238 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CCT C,T 8.236e-06 7:94409557 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 splice_region_variant 0.328306 0.25161 0.07914 0.062308 0.426025525108384 0.241228 0.99975494444276 TRUE 4.06065e-06 ENSE00001086684_012 ENSE00001086684 012 7 94038808 94038977 + 68 45 57 C T 94038871 1629 64 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTTATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409558 94409559 94409559 upstr_intron -5 -0.0588235294117647 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTTATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 121 323 1 1 1 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0989483325310931 0.0185497789203297 0.974925496616747 0.941250944274289 NA 0.0587490557257114 NA FALSE NA 0 -0.621 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TCA C,T 1.647e-05 7:94409559 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 splice_region_variant 0.263665 0.26662 0.08493 0.062308 0.356789800708508 0.227264 0.99975494444276 TRUE 1.21819e-05 ENSE00001086684_013 ENSE00001086684 013 7 94038808 94038977 + 68 45 57 A G 94038872 1630 65 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCGTAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409559 94409560 94409560 upstr_intron -4 -0.0441176470588235 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCGTAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 1886 561 0.987783156837752 1 0.993891578418876 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0867314893688448 0.0185497789203297 0.974925496616747 0.941250944274289 NA 0.0526406341445873 NA FALSE NA 0 -0.303 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CAT A,G 8.236e-06 7:94409560 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 splice_region_variant -0.271587 0.17691 0.09329 0.062308 0.363862215378086 0.22122 0.99975494444276 TRUE 4.06062e-06 ENSE00001086684_014 ENSE00001086684 014 7 94038808 94038977 + 68 45 57 T C 94038873 1631 66 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCACAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409560 94409561 94409561 upstr_intron -3 -0.0294117647058824 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCACAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 1089 963 0.996767742923336 0.999405003518345 0.998086373220841 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0957160754544291 0.017954782438675 0.974925496616747 0.941250944274289 NA 0.056835428946552 NA FALSE NA 0 -0.716 rs142170936 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs142170936 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATA T,C 8.236e-06 7:94409561 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 splice_region_variant -0.143899 0.23574 0.06854 0.062308 0.531122221718868 0.256666 0.99975494444276 TRUE 4.06062e-06 ENSE00001086684_016 ENSE00001086684 016 7 94038808 94038977 + 68 45 57 G A 94038911 1633 104 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAAGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409598 94409599 94409599 exon -10 0.8 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAAGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 323 679 0.92076542914277 1 0.960382714571385 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0197137616738629 0.0185497789203297 0.974925496616747 0.941250944274289 NA 0.0191317702970963 NA FALSE NA 1 2.515 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA AGG G,A 1.647e-05 7:94409599 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 synonymous_variant 1.105425 0.93708 0.66641 0.706548 0.544932087830192 0 0.99975494444276 TRUE 8.12123e-06 ENSE00001086684_019 ENSE00001086684 019 7 94038808 94038977 + 68 45 57 C T 94038934 1636 127 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGTGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409621 94409622 94409622 downstr_intron 14 1.25 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGTGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 263 529 0.990961371621941 0.996470342424127 0.993715857023034 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0899097041530337 0.0150201213444571 0.974925496616747 0.941250944274289 NA 0.0524649127487454 NA FALSE NA 0 -0.747 rs42518 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs42518 1 C:0.1719 T:0.9221 T:0.8401 NA T:0.9038 T:0.7724 T:0.6718 T:0.8983 T:0.7647 GCG T,T 0.781 7:94409622 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant -0.290014 0.18049 0.04566 0.062308 0.311514571799985 0.152203 0.99975494444276 TRUE 0.781776 ENSE00001086684_020 ENSE00001086684 020 7 94038808 94038977 + 68 45 57 G A 94038935 1637 128 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCATAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409622 94409623 94409623 downstr_intron 15 1.26785714285714 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCATAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 922 1406 0.999731882715977 0.942262759384283 0.97099732105013 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0986802152470706 -0.0391874616953869 0.974925496616747 0.941250944274289 NA 0.0297463767758419 NA FALSE NA 0 0.057 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CGT G,A 8.236e-06 7:94409623 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant -0.163807 0.25231 0.05123 0.062308 0.37203882313226 0.148303 0.99975494444276 TRUE 1.62423e-05 ENSE00001086684_021 ENSE00001086684 021 7 94038808 94038977 + 68 45 57 G C 94038938 1638 131 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTACCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409625 94409626 94409626 downstr_intron 18 1.32142857142857 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTACCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 1053 559 0.992436859009633 0.996466368827303 0.994451613918468 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0913851915407258 0.0150161477476327 0.974925496616747 0.941250944274289 NA 0.0532006696441792 NA FALSE NA 0 0.575 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA AGC G,C 1.647e-05 7:94409626 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant -0.272017 0.27924 0.23336 0.062308 0.316288776602996 0.13808 0.99975494444276 TRUE 8.12117e-06 ENSE00001086684_022 ENSE00001086684 022 7 94038808 94038977 + 68 45 57 T C 94038945 1639 138 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAACGTGCTGCTATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409632 94409633 94409633 downstr_intron 25 1.44642857142857 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAACGTGCTGCTATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 139 724 1 1 1 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0989483325310931 0.0185497789203297 0.974925496616747 0.941250944274289 NA 0.0587490557257114 NA FALSE NA 0 -0.142 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA ATG T,C 2.471e-05 7:94409633 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.019191 0.22658 0.16215 0.062308 0.421389009077426 0.134239 0.99975494444276 TRUE 8.1211e-06 ENSE00001086684_023 ENSE00001086684 023 7 94038808 94038977 + 68 45 57 T C 94038953 1640 146 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCCATGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409640 94409641 94409641 downstr_intron 33 1.58928571428571 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCCATGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 1334 1042 0.998603436437074 0.999408203912763 0.999005820174919 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0975517689681676 0.0179579828330929 0.974925496616747 0.941250944274289 NA 0.0577548759006303 NA FALSE NA 0.001 0.629 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTA T,C 8.236e-06 7:94409641 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.220751 0.29711 0.22279 0.062308 0.618590700573423 0.0651783 0.99975494444276 TRUE 8.1211e-06 ENSE00001086684_024 ENSE00001086684 024 7 94038808 94038977 + 68 45 57 A G 94038954 1641 147 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTGTGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409641 94409642 94409642 downstr_intron 34 1.60714285714286 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTGTGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 574 406 0.908330546019598 1 0.954165273009799 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.00727887855069154 0.0185497789203297 0.974925496616747 0.941250944274289 NA 0.0129143287355106 NA FALSE NA 0 -0.589 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94409642 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.09929 0.17816 0.04638 0.062308 0.388013980456552 0.0651783 0.99975494444276 TRUE 4.06062e-06 ENSE00001086684_025 ENSE00001086684 025 7 94038808 94038977 + 68 45 57 A T 94038954 1642 147 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTTTGATTTTAAAGGCATTTAATGTG 94409495 94409665 94409641 94409642 94409642 downstr_intron 34 1.60714285714286 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTTTGATTTTAAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 1255 128 0.998559115641276 1 0.999279557820638 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0975074481723693 0.0185497789203297 0.974925496616747 0.941250944274289 NA 0.0580286135463495 NA FALSE NA 0 -0.589 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086684 intron_variant 0.03394 0.23379 0.06745 0.062308 0.560973922189839 0.0651783 0.99975494444276 TRUE 4.06062e-06 ENSE00001086684_026 ENSE00001086684 026 7 94038808 94038977 + 68 45 57 A G 94038962 1643 155 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTGAAGGCATTTAATGTG 94409495 94409665 94409649 94409650 94409650 downstr_intron 42 1.75 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTGAAGGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 361 639 1 1 1 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0989483325310931 0.0185497789203297 0.974925496616747 0.941250944274289 NA 0.0587490557257114 NA FALSE NA 0.001 1.974 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TAA A,G 8.236e-05 7:94409650 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.17858 0.24708 0.29449 0.062308 0.497603961335205 0.105509 0.99975494444276 TRUE 0.000117756 ENSE00001086684_027 ENSE00001086684 027 7 94038808 94038977 + 68 45 57 G A 94038965 1644 158 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAAGCATTTAATGTG 94409495 94409665 94409652 94409653 94409653 downstr_intron 45 1.80357142857143 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAAGCATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 462 776 0.99087399582044 0.997205472297885 0.994039734059163 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA 0.0898223283515335 0.015755251218215 0.974925496616747 0.941250944274289 NA 0.0527887897848742 NA FALSE NA 0 -0.326 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA AGG G,A 1.647e-05 7:94409653 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.374676 0.28026 0.10749 0.062308 0.663219580342156 0.0651783 0.99975494444276 TRUE 2.03029e-05 ENSE00001086684_028 ENSE00001086684 028 7 94038808 94038977 + 68 45 57 G A 94038966 1645 159 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGACATTTAATGTG 94409495 94409665 94409653 94409654 94409654 downstr_intron 46 1.82142857142857 GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGACATTTAATGTG GATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAGGGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCTGTGAGTATACCTGCGTAGCTAAAATGTGCTGCTATGATTTTAAAGGCATTTAATGTG mutant NA NA NA NA NA 929 826 0.876295289169741 0.991284644186582 0.933789966678161 0.990550904007762 0.959300089225732 0.901051667468907 0.98145022107967 NA NA -0.0247563782991661 0.00983442310691141 0.974925496616747 0.941250944274289 NA -0.00746097759612735 NA FALSE NA 0 0.561 rs28754326 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs28754326 1 A:0.1298 A:0.27 A:0.1182 NA A:0.0446 A:0.1312 A:0.0348 A:0.2499 A:0.1136 GGC G,A 0.106 7:94409654 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086684 intron_variant 0.309727 0.25617 0.10977 0.062308 0.57594268806543 0.0651783 0.99975494444276 TRUE 0.100698 ENSE00001086687_000 ENSE00001086687 000 7 94038019 94038188 + 63 54 53 NA NA NA NA NA ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 NA NA NA NA NA NA ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG natural 39 51 0.996470692455003 0.997916852723324 0.997193772589164 5942 10064 0.791652308638907 0.980934715523819 0.886293512081363 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 0 0 0 0 0.997193772589164 0.886293512081363 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086687 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086687_001 ENSE00001086687 001 7 94038019 94038188 + 63 54 53 T G 94038040 1580 22 ATTGTTATTGTTTTCTTAATTGACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408727 94408728 94408728 upstr_intron -42 -0.650793650793651 ATTGTTATTGTTTTCTTAATTGACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 1961 1064 0.926371962271948 0.951680591418454 0.939026276845201 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.134719653633041 -0.0292541241053647 0.997193772589164 0.886293512081363 NA 0.0527327647638379 NA FALSE NA 0.002 -0.566 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TTA T,G 8.236e-06 7:94408728 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 intron_variant 0.252933 0.27889 0.23994 0.088506 0.694692284721071 0.147238 0.99975494444276 TRUE 4.06626e-06 ENSE00001086687_002 ENSE00001086687 002 7 94038019 94038188 + 63 54 53 G A 94038046 1581 28 ATTGTTATTGTTTTCTTAATTTACTTGAAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408733 94408734 94408734 upstr_intron -36 -0.555555555555556 ATTGTTATTGTTTTCTTAATTTACTTGAAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 90 241 1 0.999841931923914 0.999920965961957 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.208347691361093 0.0189072164000946 0.997193772589164 0.886293512081363 NA 0.113627453880594 NA FALSE NA 0.005 2.636 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GGA G,A 8.236e-06 7:94408734 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 intron_variant 0.537499 0.62458 0.12864 0.088506 0.610876842017449 0.617768 0.99975494444276 TRUE NA ENSE00001086687_003 ENSE00001086687 003 7 94038019 94038188 + 63 54 53 C T 94038085 1582 67 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTTCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408772 94408773 94408773 exon 4 0.0740740740740741 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTTCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 3064 2345 0.994623292691972 0.970880389060391 0.982751840876182 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.202970984053065 -0.0100543264634276 0.997193772589164 0.886293512081363 NA 0.0964583287948186 NA FALSE NA 1 5.752 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TCC C,T 1.647e-05 7:94408773 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 missense_variant 3.505196 0.96768 0.96612 0.732398 0.996304970168574 0 0.99975494444276 TRUE 8.12222e-06 ENSE00001086687_004 ENSE00001086687 004 7 94038019 94038188 + 63 54 53 G T 94038093 1583 75 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGTTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408780 94408781 94408781 exon 12 0.222222222222222 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGTTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 244 570 1 0.999444674470591 0.999722337235296 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.208347691361093 0.0185099589467722 0.997193772589164 0.886293512081363 NA 0.113428825153932 NA FALSE NA 0.951 0.095 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GGT G,T 8.236e-06 7:94408781 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 synonymous_variant 0.921855 0.84765 0.51428 0.732398 0.621681254812769 0 0.99975494444276 TRUE 4.06105e-06 ENSE00001086687_005 ENSE00001086687 005 7 94038019 94038188 + 63 54 53 C A 94038111 1584 93 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGATTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408798 94408799 94408799 exon -25 0.555555555555556 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGATTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 1382 505 0.996255041504097 1 0.998127520752049 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.20460273286519 0.0190652844761811 0.997193772589164 0.886293512081363 NA 0.111834008670686 NA FALSE NA 0.976 0.1 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs1800229 1 NA GCT C,A 8.236e-06 7:94408799 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 synonymous_variant 1.997163 0.90979 0.75358 0.732398 0.736221931230474 0 0.99975494444276 TRUE 4.06124e-06 ENSE00001086687_006 ENSE00001086687 006 7 94038019 94038188 + 63 54 53 C A 94038124 1585 106 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCACTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408811 94408812 94408812 exon -12 0.796296296296296 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCACTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 29 688 0.994672999349833 0.999770058587467 0.99722152896865 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.203020690710926 0.0188353430636476 0.997193772589164 0.886293512081363 NA 0.110928016887287 NA FALSE NA 1 7.487 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94408812 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 missense_variant 3.925862 0.97739 0.9785 0.732398 0.986772741765594 0 0.99975494444276 TRUE 1.21846e-05 ENSE00001086687_007 ENSE00001086687 007 7 94038019 94038188 + 63 54 53 C T 94038124 1586 106 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCTCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408811 94408812 94408812 exon -12 0.796296296296296 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCTCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 943 252 0.929497483749488 0.997530047348253 0.96351376554887 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.13784517511058 0.016595331824434 0.997193772589164 0.886293512081363 NA 0.0772202534675072 NA FALSE NA 1 7.487 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086687 missense_variant 5.269559 0.9768 0.97579 0.732398 0.997143216781866 0 0.99975494444276 TRUE 8.12308e-06 ENSE00001086687_008 ENSE00001086687 008 7 94038019 94038188 + 63 54 53 T C 94038126 1587 108 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCCGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408813 94408814 94408814 exon -10 0.833333333333333 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCCGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 588 238 0.994216025456776 0.999334912846071 0.996775469151423 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.202563716817869 0.0184001973222516 0.997193772589164 0.886293512081363 NA 0.11048195707006 NA FALSE NA 1 1.276 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs200436925 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 CTG T,C 0.0002141 7:94408814 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 synonymous_variant 0.387732 0.91381 0.85825 0.732398 0.745044083071672 0 0.99975494444276 TRUE 0.000150271 ENSE00001086687_009 ENSE00001086687 009 7 94038019 94038188 + 63 54 53 C G 94038131 1588 113 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCGCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408818 94408819 94408819 exon -5 0.925925925925926 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCGCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 970 306 1 0.991728375760421 0.99586418788021 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.208347691361093 0.010793660236602 0.997193772589164 0.886293512081363 NA 0.109570675798847 NA FALSE NA 1 5.648 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CCC C,G 8.236e-06 7:94408819 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 missense_variant 3.304907 0.97757 0.97287 0.732398 0.980365761286919 0 0.99975494444276 TRUE 1.6247e-05 ENSE00001086687_010 ENSE00001086687 010 7 94038019 94038188 + 63 54 53 A T 94038139 1589 121 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTATAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408826 94408827 94408827 downstr_intron 4 1.07692307692308 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTATAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 447 1590 0.969112397605371 0.971518500739117 0.970315449172244 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.177460088966464 -0.00941621478470223 0.997193772589164 0.886293512081363 NA 0.0840219370908808 NA FALSE NA 1 4.058 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA AAA A,T 8.236e-06 7:94408827 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 splice_region_variant 1.646505 0.93069 0.80711 0.088506 0.938217560164552 0.879479 0.99975494444276 TRUE 4.06233e-06 ENSE00001086687_012 ENSE00001086687 012 7 94038019 94038188 + 63 54 53 C T 94038161 1591 143 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCATTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 94408848 94408849 94408849 downstr_intron 26 1.5 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCATTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 544 575 0.995941494901529 0.995871557545028 0.995906526223279 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.204289186262622 0.0149368420212092 0.997193772589164 0.886293512081363 NA 0.109613014141916 NA FALSE NA 0 -0.02 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA ACT C,T 8.237e-06 7:94408849 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 intron_variant 0.648927 0.18838 0.02831 0.088506 0.740799885303373 0.0448725 0.99975494444276 TRUE 4.06875e-06 ENSE00001086687_013 ENSE00001086687 013 7 94038019 94038188 + 63 54 53 A C 94038169 1592 151 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGCTAAACTTTTTACTGTGATG 94408706 94408876 94408856 94408857 94408857 downstr_intron 34 1.65384615384615 ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGCTAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG mutant NA NA NA NA NA 237 545 0.991410933041716 0.994285674446879 0.992848303744297 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 NA NA 0.199758624402809 0.0133509589230597 0.997193772589164 0.886293512081363 NA 0.106554791662934 NA FALSE NA 0.07 1.277 rs193040425 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs193040425 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 GAT A,C 4.942e-05 7:94408857 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086687 intron_variant 0.251767 0.30308 0.32797 0.088506 0.773302459489281 0.0455939 0.99975494444276 TRUE 4.07844e-05 ENSE00001086687_BRK ENSE00001086687 BRK 7 94038019 94038188 + 63 54 53 A,G; T,T NA NA NA ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCTTGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGCCAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG 94408706 94408876 NA NA NA NA NA NA ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCTTGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGCCAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG ATTGTTATTGTTTTCTTAATTTACTTGGAGGAAATTTCTTACCACCTTCTGCTTTGATTTCAGGGTCCCATTGGGTCTGCTGGCCCTCCAGGCTTCCCAGGTGCCCCTGGCCCCAAGGTAAAAACACTGGTGACCATTGTCACTACTTTGATAAACTTTTTACTGTGATG control 20 55 0 0 0 NA NA NA NA NA 0.996470692455003 0.997916852723324 0.791652308638907 0.980934715523819 -0.996470692455003 -0.997916852723324 NA NA 0.997193772589164 0.886293512081363 -0.997193772589164 NA NA NA TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086687 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086690_000 ENSE00001086690 000 7 94049482 94049651 + 63 54 53 NA NA NA NA NA CTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATCTTTGGTCCCATTATAGGGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCTGTAAGTAAGAACCTGGGTCATTTTGTATACTCACACCTCACAATGTTTAGACA 94420169 94420339 NA NA NA NA NA NA CTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATCTTTGGTCCCATTATAGGGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCTGTAAGTAAGAACCTGGGTCATTTTGTATACTCACACCTCACAATGTTTAGACA CTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATCTTTGGTCCCATTATAGGGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCTGTAAGTAAGAACCTGGGTCATTTTGTATACTCACACCTCACAATGTTTAGACA natural 11 38 0.684479265405678 0.85 0.767239632702839 700 125 0.823003116900548 0.852687544949644 0.837845330925096 0.684479265405678 0.85 0.823003116900548 0.852687544949644 0 0 0 0 0.767239632702839 0.837845330925096 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003652009 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086690_020 ENSE00001086690 020 7 94049482 94049651 + 63 54 53 G C 94049614 1864 133 CTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATCTTTGGTCCCATTATAGGGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCTGTAAGTAAGAACCTGCGTCATTTTGTATACTCACACCTCACAATGTTTAGACA 94420169 94420339 94420301 94420302 94420302 downstr_intron 16 1.30769230769231 CTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATCTTTGGTCCCATTATAGGGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCTGTAAGTAAGAACCTGCGTCATTTTGTATACTCACACCTCACAATGTTTAGACA CTCCCAGTTCTTTGAGCATCTATGTCAGGCACATTAACAGATTCATCTTTGGTCCCATTATAGGGCGAAGCTGGGGCTGCTGGTCCTGCTGGTCCTGCTGGTCCTCGGGGAAGCCCTGTAAGTAAGAACCTGGGTCATTTTGTATACTCACACCTCACAATGTTTAGACA mutant NA NA NA NA NA 12 828 1 0.842622989341382 0.921311494670691 0.684479265405678 0.85 0.823003116900548 0.852687544949644 NA NA 0.176996883099452 -0.0100645556082624 0.767239632702839 0.837845330925096 NA 0.0834661637455948 NA FALSE NA 0.011 0.067 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA GGG G,C 8.236e-06 7:94420302 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003652009 intron_variant -0.64264 0.26527 0.16822 0.088506 0.387848874351167 0.21266 0.99975494444276 TRUE 4.06471e-06 ENSE00001086700_000 ENSE00001086700 000 7 94034448 94034617 + 63 54 53 NA NA NA NA NA CTATCTTATAGGCCTATGATGTTTGTGCTATCTACCAATGTAAAAAGTCTCACCTGTGGTCCAACAACTCCTCTCTCACCAGGTCGTCCGGGTTTTCCAGGGTGACCCTAAACATGAAAACATTGTAGAGTCAACTTCTTCTTGGTAAACTATCAGACAAAATGGGGGAA 94405135 94405305 NA NA NA NA NA NA TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG natural 33 10 0.868666364548057 0.716053447293385 0.792359905920721 5899 5148 0.821423622314427 0.986642357498634 0.90403298990653 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 0 0 0 0 0.792359905920721 0.90403298990653 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086700 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086700_001 ENSE00001086700 001 7 94034448 94034617 + 63 54 53 T G 94034463 1534 16 CTATCTTATAGGCCTATGATGTTTGTGCTATCTACCAATGTAAAAAGTCTCACCTGTGGTCCAACAACTCCTCTCTCACCAGGTCGTCCGGGTTTTCCAGGGTGACCCTAAACATGAAAACATTGTAGAGTCAACTTCTTCTTGGTAAACTATCCGACAAAATGGGGGAA 94405135 94405305 94405150 94405151 94405151 upstr_intron -48 -0.746031746031746 TTCCCCCATTTTGTCGGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 257 723 1 1 1 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.178576377685573 0.0133576425013663 0.792359905920721 0.90403298990653 NA 0.0959670100934697 NA FALSE NA 0 0.614 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 9/51 1 NA CTG T 8.237e-06 7:94405151 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 intron_variant 0.181176 0.29584 0.17709 0.088506 0.608781045138741 0.0988015 0.99975494444276 TRUE NA ENSE00001086700_002 ENSE00001086700 002 7 94034448 94034617 + 63 54 53 T C 94034466 1535 19 CTATCTTATAGGCCTATGATGTTTGTGCTATCTACCAATGTAAAAAGTCTCACCTGTGGTCCAACAACTCCTCTCTCACCAGGTCGTCCGGGTTTTCCAGGGTGACCCTAAACATGAAAACATTGTAGAGTCAACTTCTTCTTGGTAAACTGTCAGACAAAATGGGGGAA 94405135 94405305 94405153 94405154 94405154 upstr_intron -45 -0.698412698412698 TTCCCCCATTTTGTCTGACAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 1175 317 0.874593600147015 1 0.937296800073507 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.053169977832588 0.0133576425013663 0.792359905920721 0.90403298990653 NA 0.0332638101669772 NA FALSE NA 0 -1.656 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 9/51 rs374185449 1 NA C:0 C:0.0001 ATA T 0.0001236 7:94405154 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 intron_variant -0.128134 0.15243 0.03553 0.088506 0.385989528961091 0.0988015 0.99975494444276 TRUE 0.000155268 ENSE00001086700_003 ENSE00001086700 003 7 94034448 94034617 + 63 54 53 A G 94034475 1536 28 TTCCCCCATTTTGTCTGATAGTTTACCGAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG 94405135 94405305 94405162 94405163 94405163 upstr_intron -36 -0.555555555555556 TTCCCCCATTTTGTCTGATAGTTTACCGAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 226 1666 0.979585146562444 0.999420250288224 0.989502698425334 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.158161524248017 0.0127778927895906 0.792359905920721 0.90403298990653 NA 0.0854697085188036 NA FALSE NA 0.008 2.652 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 9/51 1 NA CAA A 8.237e-06 7:94405163 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 intron_variant 0.037316 0.28003 0.07473 0.088506 0.461453343768092 0.0988015 0.99975494444276 TRUE 8.15076e-06 ENSE00001086700_004 ENSE00001086700 004 7 94034448 94034617 + 63 54 53 A G 94034492 1537 45 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTGCAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG 94405135 94405305 94405179 94405180 94405180 upstr_intron -19 -0.285714285714286 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTGCAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 815 330 0.793545010610329 0.993391107549929 0.893468059080129 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA -0.0278786117040976 0.00674875005129483 0.792359905920721 0.90403298990653 NA -0.0105649308264014 NA FALSE NA 0 -0.429 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 9/51 1 NA TAC A 2.471e-05 7:94405180 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 intron_variant 0.242019 0.23046 0.16619 0.088506 0.539217702138777 0.0999835 0.99975494444276 TRUE 2.8471e-05 ENSE00001086700_005 ENSE00001086700 005 7 94034448 94034617 + 63 54 53 G A 94034505 1538 58 CTATCTTATAGGCCTATGATGTTTGTGCTATCTACCAATGTAAAAAGTCTCACCTGTGGTCCAACAACTCCTCTCTCACCAGGTCGTCCGGGTTTTCCAGGGTGACCCTAAATATGAAAACATTGTAGAGTCAACTTCTTCTTGGTAAACTATCAGACAAAATGGGGGAA 94405135 94405305 94405192 94405193 94405193 upstr_intron -6 -0.0793650793650794 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATATTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 1319 1194 0.99716867491908 1 0.99858433745954 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.175745052604653 0.0133576425013663 0.792359905920721 0.90403298990653 NA 0.0945513475530098 NA FALSE NA 0.007 0.571 . splice_region_variant&intron_variant LOW COL1A2 HGNC 2198 ENST00000297268 9/51 1 NA TGT G 1.647e-05 7:94405193 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 splice_region_variant 0.899841 0.24787 0.211 0.088506 0.494748662177386 0.37184 0.99975494444276 TRUE 4.06464e-06 ENSE00001086700_007 ENSE00001086700 007 7 94034448 94034617 + 63 54 53 C T 94034518 1540 71 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCTTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG 94405135 94405305 94405205 94405206 94405206 exon 8 0.148148148148148 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCTTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 879 850 0.999577870927775 0.999813893506221 0.999695882216998 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.178154248613348 0.0131715360075872 0.792359905920721 0.90403298990653 NA 0.0956628923104679 NA FALSE NA 1 2.847 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 10/52 1 unknown(0) NA CCT C 8.237e-06 7:94405206 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 missense_variant 5.520401 0.96113 0.91677 0.706548 0.988856836288369 0 0.99975494444276 TRUE 4.06319e-06 ENSE00001086700_008 ENSE00001086700 008 7 94034448 94034617 + 63 54 53 G A 94034533 1541 86 CTATCTTATAGGCCTATGATGTTTGTGCTATCTACCAATGTAAAAAGTCTCACCTGTGGTCCAACAACTCCTCTCTCACCAGGTTGTCCGGGTTTTCCAGGGTGACCCTAAACATGAAAACATTGTAGAGTCAACTTCTTCTTGGTAAACTATCAGACAAAATGGGGGAA 94405135 94405305 94405220 94405221 94405221 exon 23 0.425925925925926 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACAACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 1067 353 0.994257675325441 0.999551712807495 0.996904694066468 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.172834053011014 0.0129093553088612 0.792359905920721 0.90403298990653 NA 0.0928717041599376 NA FALSE NA 1 4.005 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 10/52 1 unknown(0) NA CGA G 2.471e-05 7:94405221 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 missense_variant 4.763374 0.95937 0.89587 0.706548 0.998787561709865 0 0.99975494444276 TRUE 1.21883e-05 ENSE00001086700_009 ENSE00001086700 009 7 94034448 94034617 + 63 54 53 G A 94034550 1542 103 CTATCTTATAGGCCTATGATGTTTGTGCTATCTACCAATGTAAAAAGTCTCACCTGTGGTCCAACAATTCCTCTCTCACCAGGTCGTCCGGGTTTTCCAGGGTGACCCTAAACATGAAAACATTGTAGAGTCAACTTCTTCTTGGTAAACTATCAGACAAAATGGGGGAA 94405135 94405305 94405237 94405238 94405238 exon -15 0.740740740740741 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAATTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 283 137 1 0.997746278018304 0.998873139009152 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.178576377685573 0.01110392051967 0.792359905920721 0.90403298990653 NA 0.0948401491026216 NA FALSE NA 0.613 0.88 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 10/52 1 unknown(0) NA AGT G 8.237e-06 7:94405238 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 missense_variant 2.26986 0.91782 0.78575 0.706548 0.971061823537292 0 0.99975494444276 TRUE 4.06217e-06 ENSE00001086700_010 ENSE00001086700 010 7 94034448 94034617 + 63 54 53 A G 94034579 1543 132 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACGTTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG 94405135 94405305 94405266 94405267 94405267 downstr_intron 15 1.28846153846154 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACGTTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 1554 1351 0.945921566348614 0.997884581113767 0.97190307373119 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.124497944034187 0.0112422236151335 0.792359905920721 0.90403298990653 NA 0.0678700838246601 NA FALSE NA 0 -0.202 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 10/51 rs193922171 1 NA G:0.0005 G:0 CAT A 2.471e-05 7:94405267 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 intron_variant 0.048619 0.22906 0.07539 0.088506 0.344560583027678 0.0455939 0.99975494444276 TRUE 1.22005e-05 ENSE00001086700_011 ENSE00001086700 011 7 94034448 94034617 + 63 54 53 T A 94034602 1544 155 CTATCTTATAGGCCTTTGATGTTTGTGCTATCTACCAATGTAAAAAGTCTCACCTGTGGTCCAACAACTCCTCTCTCACCAGGTCGTCCGGGTTTTCCAGGGTGACCCTAAACATGAAAACATTGTAGAGTCAACTTCTTCTTGGTAAACTATCAGACAAAATGGGGGAA 94405135 94405305 94405289 94405290 94405290 downstr_intron 38 1.73076923076923 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCAAAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 144 917 0.985903776397374 0.954138751206891 0.970021263802133 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.164480154082947 -0.0325036062917425 0.792359905920721 0.90403298990653 NA 0.0659882738956024 NA FALSE NA 0 0.012 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 10/51 1 NA ATA T 1.647e-05 7:94405290 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 intron_variant -0.027663 0.22694 0.05802 0.088506 0.533627954625838 0.0455939 0.99975494444276 TRUE 0 ENSE00001086700_012 ENSE00001086700 012 7 94034448 94034617 + 63 54 53 G A 94034604 1545 157 CTATCTTATAGGCTTATGATGTTTGTGCTATCTACCAATGTAAAAAGTCTCACCTGTGGTCCAACAACTCCTCTCTCACCAGGTCGTCCGGGTTTTCCAGGGTGACCCTAAACATGAAAACATTGTAGAGTCAACTTCTTCTTGGTAAACTATCAGACAAAATGGGGGAA 94405135 94405305 94405291 94405292 94405292 downstr_intron 40 1.76923076923077 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAAGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 1037 798 0.99864284003018 0.919036113454983 0.958839476742581 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.177219217715753 -0.0676062440436507 0.792359905920721 0.90403298990653 NA 0.054806486836051 NA FALSE NA 0 0.011 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 10/51 1 NA AGG G 8.237e-06 7:94405292 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 intron_variant 0.178387 0.20915 0.16977 0.088506 0.572965053788092 0.0455939 0.99975494444276 TRUE 4.12797e-06 ENSE00001086700_013 ENSE00001086700 013 7 94034448 94034617 + 63 54 53 C T 94034606 1546 159 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGTCTATAAGATAG 94405135 94405305 94405293 94405294 94405294 downstr_intron 42 1.80769230769231 TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGTCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG mutant NA NA NA NA NA 1168 525 0.999858978761738 0.999344917829516 0.999601948295627 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 NA NA 0.178435356447311 0.0127025603308822 0.792359905920721 0.90403298990653 NA 0.0955689583890966 NA FALSE NA 0 -2.193 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 10/51 1 NA GCC C 8.237e-06 7:94405294 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086700 intron_variant 0.072711 0.15596 0.04227 0.088506 0.722773836085067 0.0455939 0.99975494444276 TRUE 4.13969e-06 ENSE00001086700_BRK ENSE00001086700 BRK 7 94034448 94034617 + 63 54 53 A,G; T,T NA NA NA TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTTTGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGCCGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG 94405135 94405305 NA NA NA NA NA NA TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTTTGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGCCGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG TTCCCCCATTTTGTCTGATAGTTTACCAAGAAGAAGTTGACTCTACAATGTTTTCATGTTTAGGGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAGGTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAG control 35 22 0 0 0 NA NA NA NA NA 0.868666364548057 0.716053447293385 0.821423622314427 0.986642357498634 -0.868666364548057 -0.716053447293385 NA NA 0.792359905920721 0.90403298990653 -0.792359905920721 NA NA NA TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086700 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086716_000 ENSE00001086716 000 7 94038994 94039163 + 41 99 30 NA NA NA NA NA CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 NA NA NA NA NA NA CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT natural 170 234 0.85 0.840527450630095 0.845263725315047 2049 850 0.953918218894021 0.934615635990334 0.944266927442177 0.85 0.840527450630095 0.953918218894021 0.934615635990334 0 0 0 0 0.845263725315047 0.944266927442177 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086716 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086716_005 ENSE00001086716 005 7 94038994 94039163 + 41 99 30 T C 94039022 1650 29 CATCACCTCCCTAATGGACCACACTGCACTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409709 94409710 94409710 upstr_intron -13 -0.292682926829268 CATCACCTCCCTAATGGACCACACTGCACTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 367 62 0.728599959284708 0.8 0.764299979642354 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA -0.225318259609312 -0.134615635990334 0.845263725315047 0.944266927442177 NA -0.179966947799823 NA FALSE NA 0.007 0.914 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA ATT T,C 1.647e-05 7:94409710 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 intron_variant 0.054365 0.24776 0.16886 0.062308 0.338034221640987 0.139574 0.99975494444276 TRUE 8.1213e-06 ENSE00001086716_007 ENSE00001086716 007 7 94038994 94039163 + 41 99 30 C A 94039037 1652 44 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGACTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409724 94409725 94409725 exon 3 0.0303030303030303 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGACTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 112 51 0.962444296223658 0.95 0.956222148111829 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA 0.00852607732963762 0.0153843640096658 0.845263725315047 0.944266927442177 NA 0.0119552206696517 NA FALSE NA 1 1.191 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GCC C,A 1.647e-05 7:94409725 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 splice_region_variant 1.884823 0.92531 0.78314 0.706548 0.890288023045371 0 0.99975494444276 TRUE 8.12216e-06 ENSE00001086716_009 ENSE00001086716 009 7 94038994 94039163 + 41 99 30 C T 94039046 1654 53 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGTGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409733 94409734 94409734 exon 12 0.121212121212121 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGTGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 471 122 0.945840967636921 0.833423875055364 0.889632421346142 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA -0.00807725125709935 -0.10119176093497 0.845263725315047 0.944266927442177 NA -0.0546345060960349 NA FALSE NA 0.995 0.437 rs34511999 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs34511999 1 T:0.0032 T:0.0008 T:0.0072 NA T:0 T:0.007 T:0.0031 T:0.0023 T:0.0098 GCG C,T 0.008401 7:94409734 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 synonymous_variant 1.871172 0.88497 0.28322 0.706548 0.65095683261821 0 0.99975494444276 TRUE 0.00777398 ENSE00001086716_012 ENSE00001086716 012 7 94038994 94039163 + 41 99 30 A T 94039073 1657 80 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGTCCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409760 94409761 94409761 exon 39 0.393939393939394 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGTCCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 347 1173 0.797422658131811 0.798295545822411 0.797859101977111 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA -0.15649556076221 -0.136320090167923 0.845263725315047 0.944266927442177 NA -0.146407825465067 NA FALSE NA 0 -1.726 rs148063325 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs148063325 1 T:0.0014 T:0.0053 T:0 NA T:0 T:0 T:0 T:0.0104 T:0.0001 GAC A,T 0.0009307 7:94409761 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 synonymous_variant -0.20484 0.3489 0.0893 0.706548 0.651166240152256 0 0.99975494444276 TRUE 0.000784527 ENSE00001086716_013 ENSE00001086716 013 7 94038994 94039163 + 41 99 30 C T 94039077 1658 84 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCTGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409764 94409765 94409765 exon 43 0.434343434343434 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCTGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 148 1081 1 0.987486900175971 0.993743450087986 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA 0.0460817811059795 0.0528712641856373 0.845263725315047 0.944266927442177 NA 0.0494765226458084 NA FALSE NA 1 3.632 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CCG C,T 8.236e-06 7:94409765 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 missense_variant 6.163187 0.95864 0.88943 0.706548 0.998725381564655 0 0.99975494444276 TRUE 1.62632e-05 ENSE00001086716_014 ENSE00001086716 014 7 94038994 94039163 + 41 99 30 G A 94039078 1659 85 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCACGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409765 94409766 94409766 exon 44 0.444444444444444 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCACGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 22 63 0.8 0.768964150340644 0.784482075170322 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA -0.15391821889402 -0.16565148564969 0.845263725315047 0.944266927442177 NA -0.159784852271855 NA FALSE NA 1 9.413 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CGC G,A 1.647e-05 7:94409766 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 missense_variant 4.664787 0.97439 0.97271 0.706548 0.998632829097709 0 0.99975494444276 TRUE 1.62647e-05 ENSE00001086716_016 ENSE00001086716 016 7 94038994 94039163 + 41 99 30 G T 94039104 1661 111 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTTCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409791 94409792 94409792 exon -30 0.707070707070707 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTTCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 32 21 0.805023819562433 0.95 0.877511909781217 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA -0.148894399331587 0.0153843640096658 0.845263725315047 0.944266927442177 NA -0.0667550176609606 NA FALSE NA 1 2.818 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TGC G,T 8.237e-06 7:94409792 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 missense_variant 1.080729 0.92427 0.84036 0.706548 0.885532005832289 0 0.99975494444276 TRUE 8.15614e-06 ENSE00001086716_018 ENSE00001086716 018 7 94038994 94039163 + 41 99 30 T A 94039112 1663 119 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCAACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409799 94409800 94409800 exon -22 0.787878787878788 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCAACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 346 81 0.948307729052622 0.965110733675195 0.956709231363908 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA -0.005610489841399 0.0304950976848604 0.845263725315047 0.944266927442177 NA 0.0124423039217307 NA FALSE NA 0.987 0.627 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTA T,A 8.237e-06 7:94409800 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 synonymous_variant 1.274096 0.93027 0.84901 0.706548 0.70025507391317 0 0.99975494444276 TRUE 8.16333e-06 ENSE00001086716_019 ENSE00001086716 019 7 94038994 94039163 + 41 99 30 G A 94039119 1664 126 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTACCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 94409806 94409807 94409807 exon -15 0.858585858585859 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTACCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 772 274 0.999304933925588 0.999860985930792 0.99958295992819 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA 0.0453867150315672 0.0652453499404577 0.845263725315047 0.944266927442177 NA 0.0553160324860125 NA FALSE NA 0.344 0.632 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TGC G,A 8.237e-06 7:94409807 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 missense_variant 2.698594 0.91552 0.70817 0.706548 0.992502256074367 0 0.99975494444276 TRUE NA ENSE00001086716_022 ENSE00001086716 022 7 94038994 94039163 + 41 99 30 A G 94039144 1667 151 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCGTGACTGTGGTTCTCATCAT 94409681 94409851 94409831 94409832 94409832 downstr_intron 11 1.37931034482759 CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCGTGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT mutant NA NA NA NA NA 45 152 0.991467407139823 0.969941437681963 0.980704422410893 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA 0.037549188245802 0.0353258016916284 0.845263725315047 0.944266927442177 NA 0.0364374949687152 NA FALSE NA 0 -1.96 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs369038269 1 NA G:0.0002 G:0 CAT A,G 8.237e-06 7:94409832 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001086716 intron_variant -0.011258 0.17928 0.08014 0.062308 0.317430446789136 0.0745288 0.99975494444276 TRUE 4.1057e-06 ENSE00001086716_BRK ENSE00001086716 BRK 7 94038994 94039163 + 41 99 30 A,G; T,T NA NA NA CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACTTGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTCCAAGTGGTCATGACTGTGGTTCTCATCAT 94409681 94409851 NA NA NA NA NA NA CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACTTGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTCCAAGTGGTCATGACTGTGGTTCTCATCAT CATCACCTCCCTAATGGACCACACTGCATTTTCCTTCACAGGGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTTGTAAGTGGTCATGACTGTGGTTCTCATCAT control NA NA NA NA NA 560 228 0.0132020222549971 0 0.00660101112749853 0.85 0.840527450630095 0.953918218894021 0.934615635990334 NA NA -0.940716196639024 -0.934615635990334 0.845263725315047 0.944266927442177 NA -0.937665916314679 NA TRUE NA NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001086716 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001086752_000 ENSE00001086752 000 7 158552145 158552314 - 32 96 42 NA NA NA NA NA TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 NA NA NA NA NA NA TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC natural 23 18 1 1 1 3479 2601 0.956910670183679 0.841320594870925 0.899115632527302 1 1 0.956910670183679 0.841320594870925 0 0 0 0 1 0.899115632527302 0 0 0 FALSE FALSE NA NA NA NA NA ESYT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ESYT2 NA NA NA ENSG00000117868 ENSE00001086752 NA NA NA NA NA NA NA 0.00844095092621287 FALSE NA ENSE00001086752_001 ENSE00001086752 001 7 158552145 158552314 - 32 96 42 T C 158552156 3270 159 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACGCCTGTGGGTGC 158759453 158759623 158759464 158759465 158759465 downstr_intron 21 1.67741935483871 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACGCCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 2290 858 0.99538324243534 0.99951059549125 0.997446918963295 1 1 0.956910670183679 0.841320594870925 NA NA 0.038472572251661 0.158190000620325 1 0.899115632527302 NA 0.0983312864359929 NA FALSE NA 0 0.052 rs115045342 intron_variant MODIFIER ESYT2 HGNC 22211 ENST00000251527 13/21 rs115045342 1 C:0.0014 C:0.0053 C:0 NA C:0 C:0 C:0 C:0.0043 C:0 GTG T,C 0.0004777 7:158759465 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 intron_variant 0.104768 0.15857 0.02349 0.295142 0.582342804843185 0.192148 0.00844095092621287 FALSE 0.000344384 ENSE00001086752_002 ENSE00001086752 002 7 158552145 158552314 - 32 96 42 G A 158552157 3271 158 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAATACCTGTGGGTGC 158759453 158759623 158759465 158759466 158759466 downstr_intron 20 1.64516129032258 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAATACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 278 21 0.94593328528127 1 0.972966642640635 1 1 0.956910670183679 0.841320594870925 NA NA -0.0109773849024088 0.158679405129075 1 0.899115632527302 NA 0.0738510101133331 NA FALSE NA 0 -0.093 . intron_variant MODIFIER ESYT2 HGNC 22211 ENST00000251527 13/21 1 NA TGT G,A 8.237e-06 7:158759466 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 intron_variant 0.247867 0.2071 0.16177 0.295142 0.583829339289466 0.192148 0.00844095092621287 FALSE 4.09628e-06 ENSE00001086752_003 ENSE00001086752 003 7 158552145 158552314 - 32 96 42 C T 158552162 3272 153 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTAGTAACACCTGTGGGTGC 158759453 158759623 158759470 158759471 158759471 downstr_intron 15 1.48387096774194 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTAGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 280 471 1 0.997871137436023 0.998935568718011 1 1 0.956910670183679 0.841320594870925 NA NA 0.043089329816321 0.156550542565098 1 0.899115632527302 NA 0.0998199361907094 NA FALSE NA 0 0.104 . intron_variant MODIFIER ESYT2 HGNC 22211 ENST00000251527 13/21 rs201340146 1 NA T:0.0002 T:0.0001 CCA C,T 8.237e-05 7:158759471 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 intron_variant 1.3217 0.27684 0.24274 0.295142 0.782464893070035 0.335832 0.00844095092621287 FALSE 0.000151518 ENSE00001086752_004 ENSE00001086752 004 7 158552145 158552314 - 32 96 42 G A 158552178 3273 137 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCTGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759486 158759487 158759487 exon -2 0.989583333333333 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCTGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 224 260 0.972188077158729 1 0.986094038579365 1 1 0.956910670183679 0.841320594870925 NA NA 0.0152774069750504 0.158679405129075 1 0.899115632527302 NA 0.0869784060520627 NA FALSE NA 1 9.373 . missense_variant&splice_region_variant MODERATE ESYT2 HGNC 22211 ENST00000251527 13/22 1 deleterious(0.01) probably_damaging(0.983) NA CGG G,A 2.471e-05 7:158759487 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 7.393632 0.99287 0.99303 0.706548 0.998633599790862 0 0.00844095092621287 FALSE 2.44519e-05 ENSE00001086752_006 ENSE00001086752 006 7 158552145 158552314 - 32 96 42 G T 158552183 3275 132 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAAACTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759491 158759492 158759492 exon -7 0.9375 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAAACTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 789 592 1 0.997849970836667 0.998924985418334 1 1 0.956910670183679 0.841320594870925 NA NA 0.043089329816321 0.156529375965742 1 0.899115632527302 NA 0.0998093528910315 NA FALSE NA 1 1.976 . missense_variant MODERATE ESYT2 HGNC 22211 ENST00000251527 13/22 1 deleterious(0) benign(0.373) NA GGT G,T 8.236e-06 7:158759492 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 4.379609 0.96749 0.93427 0.706548 0.995148011186834 0 0.00844095092621287 FALSE 4.07143e-06 ENSE00001086752_007 ENSE00001086752 007 7 158552145 158552314 - 32 96 42 T C 158552184 3276 131 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAGCCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759492 158759493 158759493 exon -8 0.927083333333333 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAGCCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 548 1747 0.897492740632923 0.997744142817784 0.947618441725353 1 1 0.956910670183679 0.841320594870925 NA NA -0.0594179295507561 0.156423547946859 1 0.899115632527302 NA 0.0485028091980514 NA FALSE NA 1 4.788 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:158759493 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 2.725354 0.9794 0.95963 0.706548 0.986793885393182 0 0.00844095092621287 FALSE 4.07143e-06 ENSE00001086752_008 ENSE00001086752 008 7 158552145 158552314 - 32 96 42 T G 158552184 3277 131 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGACCCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759492 158759493 158759493 exon -8 0.927083333333333 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGACCCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 74 897 1 0.994808029431145 0.997404014715572 1 1 0.956910670183679 0.841320594870925 NA NA 0.043089329816321 0.15348743456022 1 0.899115632527302 NA 0.0982883821882703 NA FALSE NA 1 4.788 NA NA NA ESYT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ESYT2 NA NA NA ENSG00000117868 ENSE00001086752 missense_variant 3.874572 0.98015 0.97111 0.706548 0.992554909191041 0 0.00844095092621287 FALSE 8.14286e-06 ENSE00001086752_009 ENSE00001086752 009 7 158552145 158552314 - 32 96 42 C G 158552198 3278 117 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTCGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759506 158759507 158759507 exon -22 0.78125 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTCGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 637 616 0.884092366532524 0.997940486814577 0.941016426673551 1 1 0.956910670183679 0.841320594870925 NA NA -0.0728183036511553 0.156619891943652 1 0.899115632527302 NA 0.0419007941462485 NA FALSE NA 1 2.937 . missense_variant MODERATE ESYT2 HGNC 22211 ENST00000251527 13/22 1 deleterious(0) probably_damaging(0.988) NA CCA C,G 8.236e-06 7:158759507 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 6.133316 0.98389 0.96426 0.706548 0.998908889792597 0 0.00844095092621287 FALSE 4.06445e-06 ENSE00001086752_010 ENSE00001086752 010 7 158552145 158552314 - 32 96 42 T C 158552216 3279 99 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCGTTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759524 158759525 158759525 exon -40 0.59375 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCGTTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 422 1034 0.996435493618388 0.997869416766288 0.997152455192338 1 1 0.956910670183679 0.841320594870925 NA NA 0.039524823434709 0.156548821895363 1 0.899115632527302 NA 0.0980368226650358 NA FALSE NA 0.006 -1.205 . synonymous_variant LOW ESYT2 HGNC 22211 ENST00000251527 13/22 1 NA ATG T,C 1.647e-05 7:158759525 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 synonymous_variant 0.989421 0.19355 0.06326 0.706548 0.48147920473165 0 0.00844095092621287 FALSE 3.24995e-05 ENSE00001086752_011 ENSE00001086752 011 7 158552145 158552314 - 32 96 42 A G 158552226 3280 89 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCCTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759534 158759535 158759535 exon 47 0.489583333333333 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCCTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 761 562 0.995131379431458 0.998771706652289 0.996951543041873 1 1 0.956910670183679 0.841320594870925 NA NA 0.0382207092477785 0.157451111781364 1 0.899115632527302 NA 0.0978359105145712 NA FALSE NA 1 7.073 . missense_variant MODERATE ESYT2 HGNC 22211 ENST00000251527 13/22 1 tolerated(0.07) benign(0.191) NA AAG A,G 1.647e-05 7:158759535 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 3.390956 0.99068 0.98742 0.706548 0.997103053153782 0 0.00844095092621287 FALSE 1.21881e-05 ENSE00001086752_012 ENSE00001086752 012 7 158552145 158552314 - 32 96 42 A C 158552228 3281 87 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGGCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759536 158759537 158759537 exon 45 0.46875 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGGCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 936 212 0.999515353622057 0.99925326496788 0.999384309294969 1 1 0.956910670183679 0.841320594870925 NA NA 0.042604683438378 0.157932670096955 1 0.899115632527302 NA 0.100268676767667 NA FALSE NA 0.005 -1.506 rs145171230 synonymous_variant LOW ESYT2 HGNC 22211 ENST00000251527 13/22 rs145171230 1 NA C:0 C:0.0002 GAC A,C 1.647e-05 7:158759537 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 synonymous_variant 0.060513 0.51843 0.07649 0.706548 0.667971594718924 0 0.00844095092621287 FALSE 1.62505e-05 ENSE00001086752_013 ENSE00001086752 013 7 158552145 158552314 - 32 96 42 C T 158552230 3282 85 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATAGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759538 158759539 158759539 exon 43 0.447916666666667 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATAGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 927 270 0.993934145784058 0.9994137991248 0.996673972454429 1 1 0.956910670183679 0.841320594870925 NA NA 0.0370234756003788 0.158093204253875 1 0.899115632527302 NA 0.0975583399271269 NA FALSE NA 1 4.6 . missense_variant MODERATE ESYT2 HGNC 22211 ENST00000251527 13/22 1 tolerated(0.05) benign(0.085) NA CCA C,T 4.118e-05 7:158759539 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 4.07512 0.98743 0.96143 0.706548 0.998780434840238 0 0.00844095092621287 FALSE 4.46947e-05 ENSE00001086752_014 ENSE00001086752 014 7 158552145 158552314 - 32 96 42 C T 158552233 3283 82 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACAATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759541 158759542 158759542 exon 40 0.416666666666667 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACAATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 343 492 0.998186261054779 1 0.99909313052739 1 1 0.956910670183679 0.841320594870925 NA NA 0.0412755908711 0.158679405129075 1 0.899115632527302 NA 0.0999774980000875 NA FALSE NA 1 7.431 . missense_variant MODERATE ESYT2 HGNC 22211 ENST00000251527 13/22 1 tolerated(0.12) possibly_damaging(0.459) NA TCG C,T 1.647e-05 7:158759542 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 6.132222 0.99269 0.98827 0.706548 0.999153548311675 0 0.00844095092621287 FALSE 1.6252e-05 ENSE00001086752_015 ENSE00001086752 015 7 158552145 158552314 - 32 96 42 G A 158552234 3284 81 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAATGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759542 158759543 158759543 exon 39 0.40625 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAATGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 696 668 0.986545279083584 1 0.993272639541792 1 1 0.956910670183679 0.841320594870925 NA NA 0.0296346088999052 0.158679405129075 1 0.899115632527302 NA 0.0941570070144901 NA FALSE NA 1 1.334 NA NA NA ESYT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:158759543 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 synonymous_variant 1.395345 0.95451 0.57327 0.706548 0.652249130757393 0 0.00844095092621287 FALSE 0.00454327 ENSE00001086752_017 ENSE00001086752 017 7 158552145 158552314 - 32 96 42 T C 158552235 3286 80 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAGCGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759543 158759544 158759544 exon 38 0.395833333333333 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAGCGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 97 1778 1 0.999111615782242 0.999555807891121 1 1 0.956910670183679 0.841320594870925 NA NA 0.043089329816321 0.157791020911317 1 0.899115632527302 NA 0.100440175363819 NA FALSE NA 1 1.264 . missense_variant MODERATE ESYT2 HGNC 22211 ENST00000251527 13/22 rs370521803 1 tolerated(0.3) benign(0.013) NA C:0.0002 C:0 GTT T,C 8.236e-06 7:158759544 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 1.161435 0.97914 0.92579 0.706548 0.98581755057581 0 0.00844095092621287 FALSE 8.12572e-06 ENSE00001086752_018 ENSE00001086752 018 7 158552145 158552314 - 32 96 42 T C 158552247 3287 68 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAGAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759555 158759556 158759556 exon 26 0.270833333333333 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAGAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 994 1024 0.995670320399396 0.99984552353381 0.997757921966603 1 1 0.956910670183679 0.841320594870925 NA NA 0.038759650215717 0.158524928662885 1 0.899115632527302 NA 0.098642289439301 NA FALSE NA 1 2.278 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:158759556 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 1.681385 0.97723 0.86913 0.706548 0.995316501657648 0 0.00844095092621287 FALSE 0 ENSE00001086752_019 ENSE00001086752 019 7 158552145 158552314 - 32 96 42 T G 158552247 3288 68 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACACAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759555 158759556 158759556 exon 26 0.270833333333333 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACACAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 179 1464 0.986710973561469 0.997946254612255 0.992328614086862 1 1 0.956910670183679 0.841320594870925 NA NA 0.02980030337779 0.15662565974133 1 0.899115632527302 NA 0.09321298155956 NA FALSE NA 1 2.278 NA NA NA ESYT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ESYT2 NA NA NA ENSG00000117868 ENSE00001086752 missense_variant 2.86092 0.9782 0.92265 0.706548 0.992588243396804 0 0.00844095092621287 FALSE 4.06511e-06 ENSE00001086752_020 ENSE00001086752 020 7 158552145 158552314 - 32 96 42 C G 158552251 3289 64 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTCACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759559 158759560 158759560 exon 22 0.229166666666667 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTCACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 113 1270 1 0.996662595573482 0.998331297786741 1 1 0.956910670183679 0.841320594870925 NA NA 0.043089329816321 0.155342000702557 1 0.899115632527302 NA 0.0992156652594389 NA FALSE NA 1 7.431 . missense_variant MODERATE ESYT2 HGNC 22211 ENST00000251527 13/22 rs373078384 1 deleterious(0.02) probably_damaging(0.941) NA G:0 G:0.0001 TCA C,G 8.236e-06 7:158759560 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 missense_variant 5.261894 0.99248 0.9907 0.706548 0.995639682609444 0 0.00844095092621287 FALSE 4.06438e-06 ENSE00001086752_021 ENSE00001086752 021 7 158552145 158552314 - 32 96 42 G T 158552258 3290 57 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATAAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759566 158759567 158759567 exon 15 0.15625 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATAAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 1059 1690 0.997926216255694 0.999751908277998 0.998839062266846 1 1 0.956910670183679 0.841320594870925 NA NA 0.0410155460720146 0.158431313407073 1 0.899115632527302 NA 0.0997234297395437 NA FALSE NA 1 2.22 . synonymous_variant LOW ESYT2 HGNC 22211 ENST00000251527 13/22 1 NA TGA G,T 3.295e-05 7:158759567 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 synonymous_variant 1.098558 0.9687 0.88406 0.706548 0.747844558043448 0 0.00844095092621287 FALSE 7.3188e-05 ENSE00001086752_022 ENSE00001086752 022 7 158552145 158552314 - 32 96 42 T C 158552264 3291 51 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACGGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759572 158759573 158759573 exon 9 0.09375 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACGGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 864 1376 0.998175823606523 1 0.999087911803262 1 1 0.956910670183679 0.841320594870925 NA NA 0.0412651534228443 0.158679405129075 1 0.899115632527302 NA 0.0999722792759596 NA FALSE NA 0 -0.485 . synonymous_variant LOW ESYT2 HGNC 22211 ENST00000251527 13/22 1 NA CTG T,C 1.647e-05 7:158759573 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 synonymous_variant -0.044753 0.46951 0.12553 0.706548 0.548079757053435 0 0.00844095092621287 FALSE 1.62706e-05 ENSE00001086752_023 ENSE00001086752 023 7 158552145 158552314 - 32 96 42 A T 158552283 3292 32 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCATTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC 158759453 158759623 158759591 158759592 158759592 upstr_intron -11 -0.238095238095238 TGTGGAAACATGGCTGCTAAGGGCTTTTTCCATTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC TGTGGAAACATGGCTGCTAAGGGCTTTTTCCTTTCCTTTTAGGTGCTAACAGACATCAAAGCTGACAAAGACCAAGCCAACGATGGTCTTTCCTCTGCATTGCTGATCTTGTACTTGGATTCAGCAAGGAACCTTCCGGTAGGTAACACAGTGGTAACACCTGTGGGTGC mutant NA NA NA NA NA 1134 386 0.996423612524497 1 0.998211806262248 1 1 0.956910670183679 0.841320594870925 NA NA 0.0395129423408176 0.158679405129075 1 0.899115632527302 NA 0.0990961737349463 NA FALSE NA 0 -0.1 . intron_variant MODIFIER ESYT2 HGNC 22211 ENST00000251527 12/21 1 NA AAG A,T 2.471e-05 7:158759592 ESYT2 HGNC Symbol protein_coding 99258 ENSG00000117868 ENSE00001086752 intron_variant -0.09952 0.38659 0.0555 0.062308 0.542953281384991 0.0726064 0.00844095092621287 FALSE 1.63823e-05 ENSE00001087852_000 ENSE00001087852 000 8 91031267 91031436 + 47 87 36 NA NA NA NA NA TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCACATCACACTGAATTGCATGAACCTGCAAAATAACAAAAAGAATATGACATTTTCCAGCTTTCTTAAACC 90019038 90019208 NA NA NA NA NA NA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA natural NA NA NA NA NA 3925 2993 0.94387288239586 0.948051031294459 0.945961956845159 NA NA 0.94387288239586 0.948051031294459 NA NA 0 0 NA 0.945961956845159 NA 0 NA FALSE NA NA NA NA NA NA DECR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DECR1 NA NA NA ENSG00000104325 ENSE00003514008 NA NA NA NA NA NA NA 1.66744250187555e-05 FALSE NA ENSE00001087852_001 ENSE00001087852 001 8 91031267 91031436 + 47 87 36 C T 91031279 1634 13 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCACATCACACTGAATTGCATGAACCTGCAAAATAACAAAAAGAATATGACATTTTCCAACTTTCTTAAACC 90019038 90019208 90019050 90019051 90019051 upstr_intron -35 -0.723404255319149 GGTTTAAGAAAGTTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 68 25 0.981016933103952 0.940312372366256 0.960664652735104 NA NA 0.94387288239586 0.948051031294459 NA NA 0.0371440507080916 -0.00773865892820225 NA 0.945961956845159 NA 0.0147026958899447 NA FALSE NA 0 -0.003 . intron_variant MODIFIER DECR1 HGNC 2753 ENST00000517761 4/6 rs369033482 1 NA T:0 T:0.0001 GCT C,T 8.236e-06 8:90019051 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 intron_variant 0.292721 0.23004 0.06633 0.295142 0.411338282377735 0.0448725 1.66744250187555e-05 FALSE 8.15767e-06 ENSE00001087852_002 ENSE00001087852 002 8 91031267 91031436 + 47 87 36 A G 91031284 1635 18 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCACATCACACTGAATTGCATGAACCTGCAAAATAACAAAAAGAATATGACATTCTCCAGCTTTCTTAAACC 90019038 90019208 90019055 90019056 90019056 upstr_intron -30 -0.617021276595745 GGTTTAAGAAAGCTGGAGAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 347 538 0.8 0.80026838376013 0.800134191880065 NA NA 0.94387288239586 0.948051031294459 NA NA -0.14387288239586 -0.147782647534329 NA 0.945961956845159 NA -0.145827764965094 NA FALSE NA 0.016 0.98 . intron_variant MODIFIER DECR1 HGNC 2753 ENST00000517761 4/6 1 NA AAA A,G 8.236e-06 8:90019056 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 intron_variant 0.285077 0.20559 0.26812 0.295142 0.403375002243092 0.0448725 1.66744250187555e-05 FALSE NA ENSE00001087852_003 ENSE00001087852 003 8 91031267 91031436 + 47 87 36 A G 91031286 1636 20 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCACATCACACTGAATTGCATGAACCTGCAAAATAACAAAAAGAATATGACACTTTCCAGCTTTCTTAAACC 90019038 90019208 90019057 90019058 90019058 upstr_intron -28 -0.574468085106383 GGTTTAAGAAAGCTGGAAAGTGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 1681 139 0.823758052517287 0.845009299791676 0.834383676154482 NA NA 0.94387288239586 0.948051031294459 NA NA -0.120114829878573 -0.103041731502782 NA 0.945961956845159 NA -0.111578280690678 NA FALSE NA 0 -0.361 . intron_variant MODIFIER DECR1 HGNC 2753 ENST00000517761 4/6 1 NA AAT A,G 8.236e-06 8:90019058 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 intron_variant 0.178623 0.19663 0.24933 0.295142 0.304135483061812 0.0448725 1.66744250187555e-05 FALSE 8.14392e-06 ENSE00001087852_008 ENSE00001087852 008 8 91031267 91031436 + 47 87 36 C A 91031296 1641 30 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCACATCACACTGAATTGCATGAACCTGCAAAATAACAAAAATAATATGACATTTTCCAGCTTTCTTAAACC 90019038 90019208 90019067 90019068 90019068 upstr_intron -18 -0.361702127659574 GGTTTAAGAAAGCTGGAAAATGTCATATTATTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 21 1100 0.990558630066385 0.8 0.895279315033192 NA NA 0.94387288239586 0.948051031294459 NA NA 0.0466857476705247 -0.148051031294459 NA 0.945961956845159 NA -0.050682641811967 NA FALSE NA 0 -0.383 . intron_variant MODIFIER DECR1 HGNC 2753 ENST00000517761 4/6 rs371840859 1 NA A:0.0002 A:0 TCT C,A 8.236e-06 8:90019068 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 intron_variant 0.046599 0.26295 0.25139 0.295142 0.484250924994405 0.0456277 1.66744250187555e-05 FALSE 1.22063e-05 ENSE00001087852_012 ENSE00001087852 012 8 91031267 91031436 + 47 87 36 C G 91031317 1645 51 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCACATCACACTGAATTGCATCAACCTGCAAAATAACAAAAAGAATATGACATTTTCCAGCTTTCTTAAACC 90019038 90019208 90019088 90019089 90019089 exon 4 0.0459770114942529 GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTGATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 51 86 0.95 0.873568283178688 0.911784141589344 NA NA 0.94387288239586 0.948051031294459 NA NA 0.00612711760413986 -0.0744827481157707 NA 0.945961956845159 NA -0.0341778152558154 NA FALSE NA 0.997 3.587 . missense_variant MODERATE DECR1 HGNC 2753 ENST00000517761 5/7 1 tolerated(0.21) possibly_damaging(0.685) NA TCA C,G 8.236e-06 8:90019089 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 missense_variant 2.949665 0.98975 0.99073 0.706548 0.988168990158177 0 1.66744250187555e-05 FALSE 1.21929e-05 ENSE00001087852_016 ENSE00001087852 016 8 91031267 91031436 + 47 87 36 G A 91031335 1649 69 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCATATCACACTGAATTGCATGAACCTGCAAAATAACAAAAAGAATATGACATTTTCCAGCTTTCTTAAACC 90019038 90019208 90019106 90019107 90019107 exon 22 0.252873563218391 GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATATGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 139 210 0.976532408987305 0.92912192137227 0.952827165179787 NA NA 0.94387288239586 0.948051031294459 NA NA 0.0326595265914449 -0.0189291099221887 NA 0.945961956845159 NA 0.00686520833462811 NA FALSE NA 1 5.118 . missense_variant MODERATE DECR1 HGNC 2753 ENST00000517761 5/7 rs202215448&COSM3413155 1 deleterious(0) probably_damaging(0.995) NA A:0 A:0.0001 TGT G,A 0.0001565 8:90019107 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 missense_variant 5.767264 0.98925 0.98609 0.706548 0.998484774837834 0 1.66744250187555e-05 FALSE 0.000166631 ENSE00001087852_018 ENSE00001087852 018 8 91031267 91031436 + 47 87 36 T C 91031349 1651 83 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATGTCAGGATCCCTCACATCACACTGAATTGCATGAACCTGCAAAATAACAAAAAGAATATGACATTTTCCAGCTTTCTTAAACC 90019038 90019208 90019120 90019121 90019121 exon 36 0.413793103448276 GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGACATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 12 259 0.643815489012501 0.8 0.721907744506251 NA NA 0.94387288239586 0.948051031294459 NA NA -0.300057393383359 -0.148051031294459 NA 0.945961956845159 NA -0.224054212338909 NA FALSE NA 0 -1.159 rs138725804 synonymous_variant LOW DECR1 HGNC 2753 ENST00000517761 5/7 rs138725804 1 C:0.0040 C:0.0151 C:0 NA C:0 C:0 C:0 C:0.0061 C:0.0003 ATA T,C 0.0008813 8:90019121 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 synonymous_variant -0.121821 0.17271 0.10655 0.706548 0.420445398028533 0 1.66744250187555e-05 FALSE 0.000654397 ENSE00001087852_019 ENSE00001087852 019 8 91031267 91031436 + 47 87 36 T C 91031351 1652 85 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCGTATCAGGATCCCTCACATCACACTGAATTGCATGAACCTGCAAAATAACAAAAAGAATATGACATTTTCCAGCTTTCTTAAACC 90019038 90019208 90019122 90019123 90019123 exon 38 0.436781609195402 GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATACGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 553 73 0.800471769881617 0.837948494001293 0.819210131941455 NA NA 0.94387288239586 0.948051031294459 NA NA -0.143401112514243 -0.110102537293165 NA 0.945961956845159 NA -0.126751824903704 NA FALSE NA 1 4.38 rs192012718 missense_variant MODERATE DECR1 HGNC 2753 ENST00000517761 5/7 rs192012718 1 tolerated(0.37) benign(0.052) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATG T,C 5.765e-05 8:90019123 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 missense_variant 1.490265 0.98472 0.76677 0.706548 0.863407387401681 0 1.66744250187555e-05 FALSE 6.50348e-05 ENSE00001087852_029 ENSE00001087852 029 8 91031267 91031436 + 47 87 36 A G 91031393 1662 127 TGTCTTGCACTTTGGCTTCATCATTGCTACACTTACATTAGGACGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCACATCACACTGAATTGCATGAACCTGCAAAATAACAAAAAGAATATGACATTTTCCAGCTTTCTTAAACC 90019038 90019208 90019164 90019165 90019165 exon -8 0.919540229885057 GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACGTCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA mutant NA NA NA NA NA 749 754 0.994675100907721 0.994388430204158 0.994531765555939 NA NA 0.94387288239586 0.948051031294459 NA NA 0.0508022185118613 0.0463373989096989 NA 0.945961956845159 NA 0.0485698087107801 NA FALSE NA 0.64 0.874 . missense_variant MODERATE DECR1 HGNC 2753 ENST00000517761 5/7 1 tolerated(0.62) benign(0.351) NA CAT A,G 8.237e-06 8:90019165 DECR1 HGNC Symbol protein_coding 50687 ENSG00000104325 ENSE00003514008 missense_variant 0.711236 0.96561 0.8908 0.706548 0.635664594017497 0 1.66744250187555e-05 FALSE 4.06762e-06 ENSE00001087852_BRK ENSE00001087852 BRK 8 91031267 91031436 + 47 87 36 A,G; T,T NA NA NA TGTCTTGCACTTTGGCTTCATCATTGCTACACTTGGATTAGGATGTCCTGCAACTTTGATCAGTTCTGACACAGTGTTTTGAACCATATCAGGATCCCTCACATCACACTGAATTGCATGAACAAGCAAAATAACAAAAAGAATATGACATTTTCCAGCTTTCTTAAACC 90019038 90019208 NA NA NA NA NA NA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCTTGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATCCAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA GGTTTAAGAAAGCTGGAAAATGTCATATTCTTTTTGTTATTTTGCAGGTTCATGCAATTCAGTGTGATGTGAGGGATCCTGATATGGTTCAAAACACTGTGTCAGAACTGATCAAAGTTGCAGGACATCCTAATGTAAGTGTAGCAATGATGAAGCCAAAGTGCAAGACA control NA NA NA NA NA 1614 312 0 0.0747898919950481 0.037394945997524 NA NA 0.94387288239586 0.948051031294459 NA NA -0.94387288239586 -0.873261139299411 NA 0.945961956845159 NA -0.908567010847635 NA TRUE NA NA NA NA NA NA DECR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DECR1 NA NA NA ENSG00000104325 ENSE00003514008 NA NA NA NA NA NA NA 1.66744250187555e-05 FALSE NA ENSE00001087859_000 ENSE00001087859 000 8 91072813 91072982 - 44 72 54 NA NA NA NA NA TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT 90060584 90060754 NA NA NA NA NA NA TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT natural 34 18 0.999495116955634 0.984462291578924 0.991978704267279 1812 1209 0.956015047409247 0.999526429659778 0.977770738534513 0.999495116955634 0.984462291578924 0.956015047409247 0.999526429659778 0 0 0 0 0.991978704267279 0.977770738534513 0 0 0 FALSE FALSE NA NA NA NA NA CALB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB1 NA NA NA ENSG00000104327 ENSE00001087859 NA NA NA NA NA NA NA 0.898924669499301 FALSE NA ENSE00001087859_008 ENSE00001087859 008 8 91072813 91072982 - 44 72 54 A T 91072890 1673 93 TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCATTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT 90060584 90060754 90060661 90060662 90060662 exon -34 0.541666666666667 TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCATTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT mutant NA NA NA NA NA 38 135 0.892085496959153 0.989801850976136 0.940943673967644 0.999495116955634 0.984462291578924 0.956015047409247 0.999526429659778 NA NA -0.0639295504500946 -0.00972457868364218 0.991978704267279 0.977770738534513 NA -0.0368270645668684 NA FALSE NA 1 0.949 . downstream_gene_variant MODIFIER CALB1 HGNC 1434 ENST00000522070 1 NA AAG A,T 8.236e-06 8:90060662 CALB1 HGNC Symbol protein_coding 36867 ENSG00000104327 ENSE00001087859 synonymous_variant -0.896962 0.96949 0.72996 0.693126 0.662777853292736 0 0.898924669499301 FALSE 4.06296e-06 ENSE00001087859_015 ENSE00001087859 015 8 91072813 91072982 - 44 72 54 G A 91072931 1680 52 TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCTAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT 90060584 90060754 90060702 90060703 90060703 upstr_intron -3 -0.037037037037037 TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCTAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT mutant NA NA NA NA NA 34 160 1 0.999010258287253 0.999505129143627 0.999495116955634 0.984462291578924 0.956015047409247 0.999526429659778 NA NA 0.0439849525907527 -0.00051617137252491 0.991978704267279 0.977770738534513 NA 0.0217343906091139 NA FALSE NA 0.816 1.172 . downstream_gene_variant MODIFIER CALB1 HGNC 1434 ENST00000522070 1 NA TGG G,A 4.118e-05 8:90060703 CALB1 HGNC Symbol protein_coding 36867 ENSG00000104327 ENSE00001087859 splice_region_variant 0.195237 0.98278 0.56565 0.053691 0.609769276109548 0.79416 0.898924669499301 FALSE 4.87837e-05 ENSE00001087859_BRK ENSE00001087859 BRK 8 91072813 91072982 - 44 72 54 A,G; T,T NA NA NA TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCTTGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGCCAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT 90060584 90060754 NA NA NA NA NA NA TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCTTGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGCCAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT TCCCACTACTGTAGATGGAGTTGGTTGTATACTATTTTATTTCTCCTCCCCCAGGACGGCAATGGATACATAGATGAAAATGAACTGGATGCTTTACTGAAGGATCTGTGCGAGAAGAATAAACAGGTAACTTAGTTACCATGGCACTTACTTCTTTAAGCAGACTCTGT control 82 12 0 0 0 NA NA NA NA NA 0.999495116955634 0.984462291578924 0.956015047409247 0.999526429659778 -0.999495116955634 -0.984462291578924 NA NA 0.991978704267279 0.977770738534513 -0.991978704267279 NA NA NA TRUE NA NA NA NA NA CALB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB1 NA NA NA ENSG00000104327 ENSE00001087859 NA NA NA NA NA NA NA 0.898924669499301 FALSE NA ENSE00001087884_000 ENSE00001087884 000 7 912063 912232 + 44 93 33 NA NA NA NA NA TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 NA NA NA NA NA NA TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC natural 20 39 1 0.997624014327762 0.998812007163881 4627 4373 0.981954165016723 0.842816934907704 0.912385549962213 1 0.997624014327762 0.981954165016723 0.842816934907704 0 0 0 0 0.998812007163881 0.912385549962213 0 0 0 FALSE FALSE NA NA NA NA NA SUN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUN1 NA NA NA ENSG00000164828 ENSE00003575416 NA NA NA NA NA NA NA 0.835840781167159 FALSE NA ENSE00001087884_001 ENSE00001087884 001 7 912063 912232 + 44 93 33 C T 912076 1 14 TTATTTTTCCATTTGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872438 872439 872439 upstr_intron -31 -0.681818181818182 TTATTTTTCCATTTGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 155 327 1 0.999516046355113 0.999758023177557 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0180458349832774 0.156699111447409 0.998812007163881 0.912385549962213 NA 0.0873724732153434 NA FALSE NA 0 -0.567 . intron_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 19/20 rs367783724 1 NA T:0.0003 T:0 TCG C,T 6.657e-05 7:872439 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 intron_variant 0.11913 0.14284 0.01125 0.295142 0.486195684406549 0.0535482 0.835840781167159 FALSE NA ENSE00001087884_002 ENSE00001087884 002 7 912063 912232 + 44 93 33 G A 912077 2 15 TTATTTTTCCATTCATTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872439 872440 872440 upstr_intron -30 -0.659090909090909 TTATTTTTCCATTCATTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 468 397 1 0.998255617527759 0.99912780876388 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0180458349832774 0.155438682620055 0.998812007163881 0.912385549962213 NA 0.0867422588016664 NA FALSE NA 0 -0.293 . intron_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 19/20 rs370246334 1 NA A:0 A:0.0001 CGT G,A 3.327e-05 7:872440 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 intron_variant -0.1671 0.13742 0.03128 0.295142 0.580281613779616 0.0535482 0.835840781167159 FALSE 7.15749e-05 ENSE00001087884_003 ENSE00001087884 003 7 912063 912232 + 44 93 33 C T 912080 3 18 TTATTTTTCCATTCGTTTATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872442 872443 872443 upstr_intron -27 -0.590909090909091 TTATTTTTCCATTCGTTTATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 211 200 1 0.996698144964931 0.998349072482466 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0180458349832774 0.153881210057227 0.998812007163881 0.912385549962213 NA 0.0859635225202522 NA FALSE NA 0 -2.026 . intron_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 19/20 1 NA TCA C,T 8.305e-06 7:872443 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 intron_variant -0.067873 0.10026 0.0254 0.295142 0.581554773645186 0.0535482 0.835840781167159 FALSE 5.34148e-06 ENSE00001087884_004 ENSE00001087884 004 7 912063 912232 + 44 93 33 T C 912088 4 26 TTATTTTTCCATTCGTTCATAATTGCGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872450 872451 872451 upstr_intron -19 -0.409090909090909 TTATTTTTCCATTCGTTCATAATTGCGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 356 203 0.995667118500889 0.997718125298955 0.996692621899922 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0137129534841661 0.154901190391251 0.998812007163881 0.912385549962213 NA 0.0843070719377086 NA FALSE NA 0 -0.869 rs116897811 intron_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 19/20 rs116897811 1 C:0.0036 C:0 C:0.0029 NA C:0 C:0.0149 C:0.001 C:0.0023 C:0.0135 GTG T,C 0.008038 7:872451 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 intron_variant 0.073008 0.16298 0.03981 0.295142 0.394938009395934 0.0535482 0.835840781167159 FALSE 0.00912223 ENSE00001087884_005 ENSE00001087884 005 7 912063 912232 + 44 93 33 G C 912094 5 32 TTATTTTTCCATTCGTTCATAATTGTGTATGCTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872456 872457 872457 upstr_intron -13 -0.272727272727273 TTATTTTTCCATTCGTTCATAATTGTGTATGCTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 1688 510 0.999755945309262 1 0.999877972654631 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0178017802925398 0.157183065092296 0.998812007163881 0.912385549962213 NA 0.087492422692418 NA FALSE NA 0.002 0.075 . intron_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 19/20 1 NA GGT G,C 8.286e-06 7:872457 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 intron_variant -0.192885 0.27154 0.10253 0.295142 0.467954405903171 0.0967761 0.835840781167159 FALSE NA ENSE00001087884_006 ENSE00001087884 006 7 912063 912232 + 44 93 33 A G 912112 6 50 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTGGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872474 872475 872475 exon 6 0.0645161290322581 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTGGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 357 324 0.982968153751286 0.999882454546856 0.991425304149071 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.00101398873456293 0.157065519639152 0.998812007163881 0.912385549962213 NA 0.0790397541868575 NA FALSE NA 0.25 -0.236 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 20/21 1 NA TAG A,G 8.277e-06 7:872475 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 synonymous_variant 0.333271 0.22716 0.07182 0.706548 0.569643773822069 0 0.835840781167159 FALSE NA ENSE00001087884_007 ENSE00001087884 007 7 912063 912232 + 44 93 33 A C 912126 7 64 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCCGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872488 872489 872489 exon 20 0.21505376344086 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCCGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 674 647 0.990941608508769 0.999409618675217 0.995175613591993 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.00898744349204628 0.156592683767513 0.998812007163881 0.912385549962213 NA 0.0827900636297795 NA FALSE NA 1 8.946 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 20/21 rs534832884 1 NA CAG A,C 1.655e-05 7:872489 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 missense_variant 6.493459 0.99476 0.99886 0.706548 0.996365077885215 0 0.835840781167159 FALSE 1.74202e-05 ENSE00001087884_008 ENSE00001087884 008 7 912063 912232 + 44 93 33 C T 912156 8 94 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCATGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872518 872519 872519 exon -44 0.537634408602151 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCATGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 319 503 0.99268134905382 0.994432552058465 0.993556950556143 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0107271840370977 0.151615617150761 0.998812007163881 0.912385549962213 NA 0.0811714005939295 NA FALSE NA 0 0.129 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 20/21 rs201199820 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 0.0002317 7:872519 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 missense_variant 3.106636 0.24175 0.0712 0.706548 0.969699866022258 0 0.835840781167159 FALSE 0.000225078 ENSE00001087884_009 ENSE00001087884 009 7 912063 912232 + 44 93 33 G A 912157 9 95 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACATATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872519 872520 872520 exon -43 0.548387096774194 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACATATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 209 736 1 0.996767791626189 0.998383895813094 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0180458349832774 0.153950856718485 0.998812007163881 0.912385549962213 NA 0.0859983458508811 NA FALSE NA 0 -4.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:872520 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 synonymous_variant 0.292291 0.05496 0.02834 0.706548 0.794614471845664 0 0.835840781167159 FALSE 0.00298416 ENSE00001087884_010 ENSE00001087884 010 7 912063 912232 + 44 93 33 G T 912157 10 95 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACTTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872519 872520 872520 exon -43 0.548387096774194 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACTTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 241 2466 0.986040134549804 0.952969432090239 0.969504783320021 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.00408596953308171 0.110152497182535 0.998812007163881 0.912385549962213 NA 0.0571192333578082 NA FALSE NA 0 -4.61 NA NA NA SUN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUN1 NA NA NA ENSG00000164828 ENSE00003575416 synonymous_variant -0.338002 0.05474 0.03709 0.706548 0.687659365699343 0 0.835840781167159 FALSE 3.54729e-05 ENSE00001087884_011 ENSE00001087884 011 7 912063 912232 + 44 93 33 G A 912178 11 116 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCACTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872540 872541 872541 exon -22 0.774193548387097 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCACTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 545 1023 0.99466210711951 0.990472391460395 0.992567249289952 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0127079421027869 0.147655456552691 0.998812007163881 0.912385549962213 NA 0.0801816993277391 NA FALSE NA 0 -4.949 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 20/21 rs375028589 1 NA A:0 A:0.0001 CGC G,A 3.314e-05 7:872541 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 synonymous_variant 0.772039 0.52449 0.02086 0.706548 0.63570795750519 0 0.835840781167159 FALSE NA ENSE00001087884_013 ENSE00001087884 013 7 912063 912232 + 44 93 33 G C 912187 13 125 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATCTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872549 872550 872550 exon -13 0.870967741935484 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATCTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 225 82 0.997970507912025 0.943505396938658 0.970737952425342 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0160163428953027 0.100688462030954 0.998812007163881 0.912385549962213 NA 0.0583524024631283 NA FALSE NA 1 1.547 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 20/21 1 NA TGT G,C 1.66e-05 7:872550 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 missense_variant 1.892667 0.98018 0.92759 0.706548 0.753647933246184 0 0.835840781167159 FALSE 4.95496e-06 ENSE00001087884_014 ENSE00001087884 014 7 912063 912232 + 44 93 33 C T 912195 14 133 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGTCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872557 872558 872558 exon -5 0.956989247311828 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGTCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 79 346 0.999477903454022 0.990277735269232 0.994877819361627 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA 0.0175237384372992 0.147460800361528 0.998812007163881 0.912385549962213 NA 0.0824922693994138 NA FALSE NA 0.001 0.434 rs189728809 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 20/21 rs189728809 1 T:0.0008 T:0.003 T:0 NA T:0 T:0 T:0 T:0.0037 T:0 GCC C,T 0.0002495 7:872558 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 missense_variant -0.494178 0.23307 0.01901 0.706548 0.676163795903874 0 0.835840781167159 FALSE 0.000312467 ENSE00001087884_016 ENSE00001087884 016 7 912063 912232 + 44 93 33 C T 912197 16 135 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCTTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 872559 872560 872560 exon -3 0.978494623655914 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCTTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 1091 1301 0.807053976228421 0.996746436453516 0.901900206340968 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA -0.174900188788302 0.153929501545812 0.998812007163881 0.912385549962213 NA -0.0104853436212448 NA FALSE NA 0.007 1.473 rs143543329 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SUN1 HGNC 18587 ENST00000413171 20/21 rs143543329 1 T:0.0016 T:0.0061 T:0 NA T:0 T:0 T:0 T:0.0047 T:0 CCT C,T 0.0004337 7:872560 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 splice_region_variant 0.386529 0.39285 0.32975 0.706548 0.649830292255605 0 0.835840781167159 FALSE 0.000452089 ENSE00001087884_017 ENSE00001087884 017 7 912063 912232 + 44 93 33 C T 912219 17 157 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCATTGCCTGGGGTCTC 872425 872595 872581 872582 872582 downstr_intron 20 1.625 TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCATTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC mutant NA NA NA NA NA 955 398 0.918427309565596 1 0.959213654782798 1 0.997624014327762 0.981954165016723 0.842816934907704 NA NA -0.0635268554511266 0.157183065092296 0.998812007163881 0.912385549962213 NA 0.0468281048205848 NA FALSE NA 0 -0.322 . intron_variant&non_coding_transcript_variant MODIFIER SUN1 HGNC 18587 ENST00000413171 20/20 1 NA ACT C,T 8.485e-06 7:872582 SUN1 HGNC Symbol protein_coding 79820 ENSG00000164828 ENSE00003575416 intron_variant -0.102088 0.06539 0.0059 0.156188 0.432656102607901 0.0532717 0.835840781167159 FALSE NA ENSE00001087884_BRK ENSE00001087884 BRK 7 912063 912232 + 44 93 33 A,G; T,T NA NA NA TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCTTGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGCCAAGAACTGGGACTGGCACTGCCTGGGGTCTC 872425 872595 NA NA NA NA NA NA TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCTTGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGCCAAGAACTGGGACTGGCACTGCCTGGGGTCTC TTATTTTTCCATTCGTTCATAATTGTGTATGGTCTTGTTTTCAGGGATTAGAAAATGAGTATCAGGAAGAAGGGCAGCTTCTGGGACAGTTCACGTATGATCAGGATGGGGAGTCGCTCCAGATGTTCCAGGCCCTGGTAAGAACTGGGACTGGCACTGCCTGGGGTCTC control 159 125 0 0 0 44 863 0 0.00426469856153879 0.00213234928076939 1 0.997624014327762 0.981954165016723 0.842816934907704 -1 -0.997624014327762 -0.981954165016723 -0.838552236346165 0.998812007163881 0.912385549962213 -0.998812007163881 -0.910253200681444 0.0885588064824372 TRUE TRUE NA NA NA NA NA SUN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUN1 NA NA NA ENSG00000164828 ENSE00003575416 NA NA NA NA NA NA NA 0.835840781167159 FALSE NA ENSE00001088262_000 ENSE00001088262 000 8 134266731 134266900 - 51 57 62 NA NA NA NA NA GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 NA NA NA NA NA NA GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT natural 54 35 0.992925632233337 0.998516875149668 0.995721253691502 2888 1845 0.994232682804436 0.998815525137819 0.996524103971128 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 0 0 0 0 0.995721253691502 0.996524103971128 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG1 NA NA NA ENSG00000104419 ENSE00003493203 NA NA NA NA NA NA NA 0.0538232412513876 FALSE NA ENSE00001088262_002 ENSE00001088262 002 8 134266731 134266900 - 51 57 62 C A 134266747 2094 154 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTTCTGAGCAAGGCATTGT 133254487 133254657 133254503 133254504 133254504 downstr_intron 35 1.7 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTTCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 310 801 0.999200748408509 1 0.999600374204255 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.0049680656040727 0.00118447486218076 0.995721253691502 0.996524103971128 NA 0.00307627023312673 NA FALSE NA 0 -1.943 NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:133254504 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 intron_variant 0.262967 0.14094 0.06686 0.218109 0.627105336281146 0.0865904 0.0538232412513876 FALSE 1.22321e-05 ENSE00001088262_005 ENSE00001088262 005 8 134266731 134266900 - 51 57 62 C T 134266765 2097 136 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTAGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254521 133254522 133254522 downstr_intron 17 1.34 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTAGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 122 49 1 1 1 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 0.00118447486218076 0.995721253691502 0.996524103971128 NA 0.00347589602887227 NA FALSE NA 0.001 -0.072 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 9/15 rs201177012 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCA C,T 8.236e-06 8:133254522 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 intron_variant 0.369912 0.2201 0.09543 0.360735 0.588403636797438 0.0865904 0.0538232412513876 FALSE 4.06626e-06 ENSE00001088262_006 ENSE00001088262 006 8 134266731 134266900 - 51 57 62 C T 134266772 2098 129 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCATGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254528 133254529 133254529 downstr_intron 10 1.2 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCATGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 83 729 0.98488959014517 0.99952877519567 0.99220918267042 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA -0.00934309265926669 0.000713250057850945 0.995721253691502 0.996524103971128 NA -0.00431492130070787 NA FALSE NA 0 -1.022 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 9/15 1 NA ACG C,T 0.0001235 8:133254529 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 intron_variant 0.501948 0.19749 0.06913 0.360735 0.613717884437082 0.155942 0.0538232412513876 FALSE 8.94287e-05 ENSE00001088262_007 ENSE00001088262 007 8 134266731 134266900 - 51 57 62 G A 134266773 2099 128 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGTGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254529 133254530 133254530 downstr_intron 9 1.18 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGTGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 433 523 1 0.999927200691318 0.999963600345659 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 0.001111675553499 0.995721253691502 0.996524103971128 NA 0.00343949637453139 NA FALSE NA 0 -2.088 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 9/15 rs373172944 1 NA A:0 A:0.0001 CGC G,A 7.413e-05 8:133254530 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 intron_variant 0.1349 0.14619 0.02479 0.360735 0.596431579707565 0.155942 0.0538232412513876 FALSE 6.91096e-05 ENSE00001088262_008 ENSE00001088262 008 8 134266731 134266900 - 51 57 62 C A 134266774 2100 127 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTTCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254530 133254531 133254531 downstr_intron 8 1.16 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTTCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 1140 1034 0.999094001032734 0.997223936972819 0.998158969002776 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00486131822829738 -0.00159158816500049 0.995721253691502 0.996524103971128 NA 0.00163486503164845 NA FALSE NA 0 -0.221 . splice_region_variant&intron_variant LOW NDRG1 HGNC 7679 ENST00000414097 9/15 1 NA GCA C,A 8.236e-06 8:133254531 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 splice_region_variant 0.494781 0.23113 0.07117 0.360735 0.398651098734111 0.155942 0.0538232412513876 FALSE 1.21935e-05 ENSE00001088262_009 ENSE00001088262 009 8 134266731 134266900 - 51 57 62 C T 134266785 2101 116 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGAAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254541 133254542 133254542 exon -4 0.947368421052632 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGAAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 292 628 0.983094420359181 0.995641983299505 0.989368201829343 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA -0.0111382624452556 -0.00317354183831375 0.995721253691502 0.996524103971128 NA -0.00715590214178469 NA FALSE NA 0.98 0.043 . synonymous_variant LOW NDRG1 HGNC 7679 ENST00000414097 9/16 rs377257830 1 NA T:0 T:0.0002 TCC C,T 3.295e-05 8:133254542 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 synonymous_variant 1.594706 0.87791 0.65737 0.706548 0.673638916005456 0 0.0538232412513876 FALSE 4.06336e-05 ENSE00001088262_010 ENSE00001088262 010 8 134266731 134266900 - 51 57 62 A T 134266791 2102 110 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTATTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254547 133254548 133254548 exon -10 0.842105263157895 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTATTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 41 744 1 0.9990221582779 0.99951107913895 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 0.000206633140080847 0.995721253691502 0.996524103971128 NA 0.00298697516782231 NA FALSE NA 1 0.92 . synonymous_variant LOW NDRG1 HGNC 7679 ENST00000414097 9/16 rs373490199 1 NA T:0 T:0.0001 AAA G,T 8.236e-06 8:133254548 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 synonymous_variant -1.104222 0.91555 0.77505 0.706548 0.794374390644719 0 0.0538232412513876 FALSE 8.12493e-06 ENSE00001088262_011 ENSE00001088262 011 8 134266731 134266900 - 51 57 62 T C 134266795 2103 106 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCGCCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254551 133254552 133254552 exon -14 0.771929824561403 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCGCCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 139 332 1 0.994057403522536 0.997028701761268 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 -0.00475812161528366 0.995721253691502 0.996524103971128 NA 0.00050459779014006 NA FALSE NA 1 7.323 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000414097 9/16 1 deleterious(0) probably_damaging(1) NA GTG T,C 8.236e-06 8:133254552 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 missense_variant 5.360466 0.97015 0.98755 0.706548 0.997481954278696 0 0.0538232412513876 FALSE 4.06306e-06 ENSE00001088262_012 ENSE00001088262 012 8 134266731 134266900 - 51 57 62 C T 134266805 2104 96 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGATGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254561 133254562 133254562 exon -24 0.596491228070175 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGATGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 304 1060 1 1 1 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 0.00118447486218076 0.995721253691502 0.996524103971128 NA 0.00347589602887227 NA FALSE NA 1 1.992 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000414097 9/16 1 deleterious(0.05) possibly_damaging(0.795) NA ACC C,T 8.236e-06 8:133254562 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 missense_variant 6.055317 0.94544 0.91859 0.706548 0.998854545891398 0 0.0538232412513876 FALSE 4.06309e-06 ENSE00001088262_013 ENSE00001088262 013 8 134266731 134266900 - 51 57 62 C T 134266812 2105 89 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCAGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254568 133254569 133254569 exon 27 0.473684210526316 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCAGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 430 110 1 1 1 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 0.00118447486218076 0.995721253691502 0.996524103971128 NA 0.00347589602887227 NA FALSE NA 0 -3.636 . synonymous_variant LOW NDRG1 HGNC 7679 ENST00000414097 9/16 1 NA CCG C,T 8.236e-06 8:133254569 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 synonymous_variant 1.464048 0.0825 0.02594 0.706548 0.646580509639187 0 0.0538232412513876 FALSE 1.21902e-05 ENSE00001088262_015 ENSE00001088262 015 8 134266731 134266900 - 51 57 62 G C 134266817 2107 84 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTGTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254573 133254574 133254574 exon 22 0.385964912280702 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTGTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 161 117 1 0.991801691811039 0.995900845905519 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 -0.00701383332678063 0.995721253691502 0.996524103971128 NA -0.000623258065608423 NA FALSE NA 0.998 2.234 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000414097 9/16 1 tolerated(0.2) possibly_damaging(0.803) NA AGA G,C 8.236e-06 8:133254574 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 missense_variant 3.505237 0.94389 0.92575 0.706548 0.995399004475172 0 0.0538232412513876 FALSE 1.21909e-05 ENSE00001088262_018 ENSE00001088262 018 8 134266731 134266900 - 51 57 62 T C 134266830 2110 71 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGGTGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254586 133254587 133254587 exon 9 0.157894736842105 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGGTGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 191 88 0.844620064522145 0.80571386299366 0.825166963757902 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA -0.149612618282291 -0.193101662144159 0.995721253691502 0.996524103971128 NA -0.171357140213225 NA FALSE NA 0.189 -0.58 . synonymous_variant LOW NDRG1 HGNC 7679 ENST00000414097 9/16 1 NA ATC T,C 8.236e-06 8:133254587 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 synonymous_variant 0.255501 0.51525 0.37703 0.706548 0.660512645309016 0 0.0538232412513876 FALSE 8.13101e-06 ENSE00001088262_019 ENSE00001088262 019 8 134266731 134266900 - 51 57 62 C T 134266831 2111 70 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGAATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254587 133254588 133254588 exon 8 0.140350877192982 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGAATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 16 82 1 0.994725839098451 0.997362919549225 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 -0.00408968603936855 0.995721253691502 0.996524103971128 NA 0.000838815578097618 NA FALSE NA 1 5.419 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000414097 9/16 1 deleterious(0.05) possibly_damaging(0.512) NA TCC C,T 8.236e-06 8:133254588 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 missense_variant 6.198638 0.97601 0.9753 0.706548 0.997518081571242 0 0.0538232412513876 FALSE 4.06554e-06 ENSE00001088262_021 ENSE00001088262 021 8 134266731 134266900 - 51 57 62 G C 134266858 2113 43 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCAGCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254614 133254615 133254615 upstr_intron -20 -0.306451612903226 GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCAGCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 652 122 0.994875656045414 1 0.997437828022707 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.000642973240977396 0.00118447486218076 0.995721253691502 0.996524103971128 NA 0.000913724051579079 NA FALSE NA 0.001 0.107 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 8/15 1 NA GGT G,C 8.237e-06 8:133254615 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 non_coding_transcript_exon_variant -0.302979 0.1971 0.13039 0.099367 0.617609968109329 0.131284 0.0538232412513876 FALSE 4.09584e-06 ENSE00001088262_022 ENSE00001088262 022 8 134266731 134266900 - 51 57 62 C A 134266870 2114 31 GCTGACCTTGTTAACTACTGTTAGCTCCTGTTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 133254626 133254627 133254627 upstr_intron -32 -0.5 GCTGACCTTGTTAACTACTGTTAGCTCCTGTTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT mutant NA NA NA NA NA 48 208 1 1 1 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 NA NA 0.00576731719556378 0.00118447486218076 0.995721253691502 0.996524103971128 NA 0.00347589602887227 NA FALSE NA 0 -0.505 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000414097 8/15 1 NA ACC C,A 2.471e-05 8:133254627 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003493203 non_coding_transcript_exon_variant 0.444594 0.18757 0.10546 0.099367 0.533576450074159 0.131284 0.0538232412513876 FALSE 1.66363e-05 ENSE00001088262_BRK ENSE00001088262 BRK 8 134266731 134266900 - 51 57 62 A,G; T,T NA NA NA GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCTTATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGCCGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT 133254487 133254657 NA NA NA NA NA NA GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCTTATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGCCGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT GCTGACCTTGTTAACTACTGTTAGCTCCTGGTTTCTCATCCACCCACTTTACTCCTTTCCAGATCTCAGGATGGACCCAAGCTCTGCCGGACATGGTGGTGTCCCACCTTTTTGGGAAGGTGAGTTGCGTGGTCTGGCAAATCTGTTGTTCCTGCTGAGCAAGGCATTGT control 246 88 0 0 0 176 557 0.00278705520570142 0 0.00139352760285071 0.992925632233337 0.998516875149668 0.994232682804436 0.998815525137819 -0.992925632233337 -0.998516875149668 -0.991445627598735 -0.998815525137819 0.995721253691502 0.996524103971128 -0.995721253691502 -0.995130576368277 0.000590677323225375 TRUE TRUE NA NA NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG1 NA NA NA ENSG00000104419 ENSE00003493203 NA NA NA NA NA NA NA 0.0538232412513876 FALSE NA ENSE00001088271_000 ENSE00001088271 000 7 150751260 150751429 - 39 81 50 NA NA NA NA NA TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCCTCTCCACAGCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGGTAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC 151054172 151054342 NA NA NA NA NA NA TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCCTCTCCACAGCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGGTAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCCTCTCCACAGCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGGTAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC natural 141 207 0.976277633229325 0.889773587251887 0.933025610240606 320 631 0.945607467436538 0.842564952094896 0.894086209765717 0.976277633229325 0.889773587251887 0.945607467436538 0.842564952094896 0 0 0 0 0.933025610240606 0.894086209765717 0 0 0 FALSE FALSE NA NA NA NA NA SLC4A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK5 NA NA NA ENSG00000164885 ENSE00001088271 NA NA NA NA NA NA NA 0.94751618934918 TRUE NA ENSE00001088271_018 ENSE00001088271 018 7 150751260 150751429 - 39 81 50 G C 150751389 3123 41 TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCGTCTCCACAGCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGGTAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC 151054172 151054342 151054301 151054302 151054302 upstr_intron -10 -0.18 TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCGTCTCCACAGCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGGTAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCCTCTCCACAGCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGGTAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC mutant NA NA NA NA NA 23 24 0.93162116731047 0.95 0.940810583655235 0.976277633229325 0.889773587251887 0.945607467436538 0.842564952094896 NA NA -0.0139863001260683 0.107435047905104 0.933025610240606 0.894086209765717 NA 0.0467243738895179 NA FALSE NA 0.097 1.099 . upstream_gene_variant MODIFIER SLC4A2 HGNC 11028 ENST00000466368 rs369852339 1 NA C:0.001 C:0 AGG G,C 5.787e-05 7:151054302 CDK5 HGNC Symbol protein_coding 4718 ENSG00000164885 ENSE00001088271 intron_variant 0.003042 0.30618 0.21376 0.062308 0.641754745264583 0.237897 0.94751618934918 TRUE 2.84923e-05 ENSE00001088271_BRK ENSE00001088271 BRK 7 150751260 150751429 - 39 81 50 A,G; T,T NA NA NA TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCCTCTCCACTTCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGCCAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC 151054172 151054342 NA NA NA NA NA NA TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCCTCTCCACTTCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGCCAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC TCCATCCCCCTCCCCCTACCTCTAGTCTGACCCTCCCTGCCTCTCCACAGCCCTATCCGATGTACCCGGCCACAACATCCCTGGTGAACGTCGTGCCCAAACTCAATGCCACAGGGAGGGATCTGCTGCAGGTAGGTGACCAGGGGTAGAGGGTGGGTCAGGACACTTGC control 426 132 0 0 0 NA NA NA NA NA 0.976277633229325 0.889773587251887 0.945607467436538 0.842564952094896 -0.976277633229325 -0.889773587251887 NA NA 0.933025610240606 0.894086209765717 -0.933025610240606 NA NA NA TRUE NA NA NA NA NA SLC4A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK5 NA NA NA ENSG00000164885 ENSE00001088271 NA NA NA NA NA NA NA 0.94751618934918 TRUE NA ENSE00001088371_000 ENSE00001088371 000 7 2041649 2041818 - 51 57 62 NA NA NA NA NA GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 NA NA NA NA NA NA CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC natural 114 74 0.968091376208342 0.989228348471827 0.978659862340085 1110 1577 0.992587953521684 0.894124526355544 0.943356239938614 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 0 0 0 0 0.978659862340085 0.943356239938614 0 0 0 FALSE FALSE NA NA NA NA NA MAD1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAD1L1 NA NA NA ENSG00000002822 ENSE00001088371 NA NA NA NA NA NA NA 2.03780827176675e-10 FALSE NA ENSE00001088371_001 ENSE00001088371 001 7 2041649 2041818 - 51 57 62 G A 2041662 18 157 GACCCAGGGTCCAAGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002026 2002027 2002027 downstr_intron 38 1.76 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACTTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 126 333 1 0.994318743960066 0.997159371980033 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.100194217604523 0.978659862340085 0.943356239938614 NA 0.0538031320414195 NA FALSE NA 0 0.555 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 14/18 1 NA AGG G,A 8.262e-06 7:2002027 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant -0.084436 0.1132 0.00651 0.106106 0.558096042324939 0.0785299 2.03780827176675e-10 FALSE 4.08177e-06 ENSE00001088371_002 ENSE00001088371 002 7 2041649 2041818 - 51 57 62 G A 2041663 19 156 GACCCAGGGTCCAGATGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002027 2002028 2002028 downstr_intron 37 1.74 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCATCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 1000 24 0.999174012076936 1 0.999587006038468 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00658605855525218 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0562307660998543 NA FALSE NA 0 -0.234 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 14/18 1 NA GGT G,A 8.263e-06 7:2002028 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant -0.048276 0.12005 0.01413 0.106106 0.602901814596513 0.0775048 2.03780827176675e-10 FALSE 4.0815e-06 ENSE00001088371_003 ENSE00001088371 003 7 2041649 2041818 - 51 57 62 C T 2041676 20 143 GACCCAGGGTCCAGGTGCCCTGAATCCTAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002040 2002041 2002041 downstr_intron 24 1.48 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTAGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 456 298 1 0.99871261195874 0.99935630597937 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.104588085603196 0.978659862340085 0.943356239938614 NA 0.0560000660407564 NA FALSE NA 0.001 0.074 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 14/18 1 NA CCA C,T 8.261e-06 7:2002041 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant 0.354494 0.093 0.0025 0.163922 0.619454249960134 0.0785299 2.03780827176675e-10 FALSE 8.14326e-06 ENSE00001088371_005 ENSE00001088371 005 7 2041649 2041818 - 51 57 62 C T 2041686 22 133 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCTGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002050 2002051 2002051 downstr_intron 14 1.28 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCAGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 561 111 0.996362244359949 0.997209131860348 0.996785688110148 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00377429083826542 0.103084605504804 0.978659862340085 0.943356239938614 NA 0.0534294481715349 NA FALSE NA 0 -2.121 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 14/18 1 NA CCG C,T 8.261e-06 7:2002051 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant 0.324936 0.07473 0.00118 0.163922 0.447505907463474 0.0775048 2.03780827176675e-10 FALSE 3.25415e-05 ENSE00001088371_006 ENSE00001088371 006 7 2041649 2041818 - 51 57 62 G A 2041687 23 132 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCACGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002051 2002052 2002052 downstr_intron 13 1.26 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGTGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 756 258 0.99729925965305 0.997452292202794 0.997375775927922 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00471130613136628 0.103327765847251 0.978659862340085 0.943356239938614 NA 0.0540195359893084 NA FALSE NA 0 -0.954 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2002052 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant -0.142526 0.10966 0.00201 0.163922 0.416214317682671 0.0603215 2.03780827176675e-10 FALSE 0.000142367 ENSE00001088371_007 ENSE00001088371 007 7 2041649 2041818 - 51 57 62 G T 2041687 24 132 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCTCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002051 2002052 2002052 downstr_intron 13 1.26 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGAGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 144 956 1 0.999834533262546 0.999917266631273 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.105710006907002 0.978659862340085 0.943356239938614 NA 0.0565610266926594 NA FALSE NA 0 -0.954 NA NA NA MAD1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAD1L1 NA NA NA ENSG00000002822 ENSE00001088371 intron_variant -0.317881 0.10255 0.00539 0.163922 0.460231541943167 0.0603215 2.03780827176675e-10 FALSE 4.06762e-06 ENSE00001088371_010 ENSE00001088371 010 7 2041649 2041818 - 51 57 62 T C 2041702 27 117 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCACGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002066 2002067 2002067 exon -3 0.964912280701754 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACGTGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 20 254 1 1 1 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0566437600613864 NA FALSE NA 1 2.154 . missense_variant&splice_region_variant MODERATE MAD1L1 HGNC 6762 ENST00000406869 14/19 1 tolerated(0.25) benign(0.026) NA ATG T,C 1.652e-05 7:2002067 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 missense_variant 1.607004 0.97033 0.80254 0.732398 0.92488538869523 0 2.03780827176675e-10 FALSE 4.06448e-05 ENSE00001088371_011 ENSE00001088371 011 7 2041649 2041818 - 51 57 62 C G 2041705 28 114 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTGTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002069 2002070 2002070 exon -6 0.912280701754386 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCACACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 337 181 1 0.999125223101882 0.999562611550941 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.105000696746339 0.978659862340085 0.943356239938614 NA 0.0562063716123276 NA FALSE NA 0.996 4.391 . missense_variant MODERATE MAD1L1 HGNC 6762 ENST00000406869 14/19 1 tolerated(0.13) benign(0.178) NA TCT C,G 8.261e-06 7:2002070 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 missense_variant 3.545167 0.98394 0.94247 0.732398 0.973361035581957 0 2.03780827176675e-10 FALSE 4.06428e-06 ENSE00001088371_012 ENSE00001088371 012 7 2041649 2041818 - 51 57 62 T C 2041706 29 113 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCCGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002070 2002071 2002071 exon -7 0.894736842105263 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCGGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 327 206 1 0.991023091880197 0.995511545940098 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.0968985655246536 0.978659862340085 0.943356239938614 NA 0.052155306001485 NA FALSE NA 0 -4.008 . synonymous_variant LOW MAD1L1 HGNC 6762 ENST00000406869 14/19 1 NA CTG T,C 8.262e-06 7:2002071 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 synonymous_variant 0.375313 0.14704 0.01186 0.732398 0.597046233496372 0 2.03780827176675e-10 FALSE 4.06445e-06 ENSE00001088371_013 ENSE00001088371 013 7 2041649 2041818 - 51 57 62 T C 2041713 30 106 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTCGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002077 2002078 2002078 exon -14 0.771929824561403 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACGAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 1532 338 0.996363671338867 0.987107356644894 0.991735513991881 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00377571781718311 0.0929828302893508 0.978659862340085 0.943356239938614 NA 0.048379274053267 NA FALSE NA 0.999 2.987 . missense_variant MODERATE MAD1L1 HGNC 6762 ENST00000406869 14/19 rs377712070 1 tolerated(0.82) benign(0.155) NA C:0 C:0.0001 TTG T,C 1.652e-05 7:2002078 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 missense_variant 2.186851 0.96986 0.83611 0.732398 0.985150958374848 0 2.03780827176675e-10 FALSE 1.21929e-05 ENSE00001088371_014 ENSE00001088371 014 7 2041649 2041818 - 51 57 62 G C 2041714 31 105 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTCTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002078 2002079 2002079 exon -15 0.754385964912281 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAAGAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 127 76 1 1 1 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0566437600613864 NA FALSE NA 0.998 2.839 . missense_variant MODERATE MAD1L1 HGNC 6762 ENST00000406869 14/19 1 tolerated(0.37) benign(0.06) NA TGT G,C 1.652e-05 7:2002079 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 missense_variant 1.643941 0.96552 0.82983 0.732398 0.82206915545585 0 2.03780827176675e-10 FALSE 1.21948e-05 ENSE00001088371_015 ENSE00001088371 015 7 2041649 2041818 - 51 57 62 C T 2041718 32 101 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTTTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002082 2002083 2002083 exon -19 0.684210526315789 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAAAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 150 56 0.986463725924482 1 0.993231862962241 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA -0.00612422759720155 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0498756230236275 NA FALSE NA 0.997 0.165 . synonymous_variant LOW MAD1L1 HGNC 6762 ENST00000406869 14/19 1 NA TCT C,T 8.262e-06 7:2002083 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 synonymous_variant 1.602997 0.9623 0.70415 0.706298 0.839672265419655 0 2.03780827176675e-10 FALSE 4.06471e-06 ENSE00001088371_017 ENSE00001088371 017 7 2041649 2041818 - 51 57 62 C T 2041723 34 96 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCTTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002087 2002088 2002088 exon -24 0.596491228070175 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAAGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 365 328 1 0.997154035992771 0.998577017996386 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.103029509637228 0.978659862340085 0.943356239938614 NA 0.0552207780577721 NA FALSE NA 0.001 0.589 . missense_variant MODERATE MAD1L1 HGNC 6762 ENST00000406869 14/19 1 tolerated(0.7) benign(0.014) NA CCT C,T 8.263e-06 7:2002088 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 missense_variant 2.5226 0.90675 0.05032 0.732398 0.893625795854346 0 2.03780827176675e-10 FALSE 4.06494e-06 ENSE00001088371_019 ENSE00001088371 019 7 2041649 2041818 - 51 57 62 G T 2041729 36 90 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCATCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002093 2002094 2002094 exon 28 0.491228070175439 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGATGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 363 1611 0.996178570308895 0.997665966706658 0.996922268507776 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.0035906167872114 0.103541440351114 0.978659862340085 0.943356239938614 NA 0.0535660285691627 NA FALSE NA 0.997 1.344 NA NA NA MAD1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2002094 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 missense_variant 2.761549 0.96802 0.68538 0.732398 0.988866575972769 0 2.03780827176675e-10 FALSE NA ENSE00001088371_020 ENSE00001088371 020 7 2041649 2041818 - 51 57 62 G A 2041739 37 80 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGAGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002103 2002104 2002104 exon 18 0.315789473684211 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCTCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 173 40 1 1 1 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0566437600613864 NA FALSE NA 1 1.058 . synonymous_variant LOW MAD1L1 HGNC 6762 ENST00000406869 14/19 rs199940133 1 NA A:0 A:0.0001 GGG G,A 0.0001074 7:2002104 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 synonymous_variant 1.54396 0.95418 0.57054 0.732398 0.818126511046375 0 2.03780827176675e-10 FALSE 0.000109784 ENSE00001088371_021 ENSE00001088371 021 7 2041649 2041818 - 51 57 62 C T 2041745 38 74 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGTGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002109 2002110 2002110 exon 12 0.210526315789474 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCACAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 482 283 1 0.995150071386676 0.997575035693338 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.101025545031133 0.978659862340085 0.943356239938614 NA 0.0542187957547246 NA FALSE NA 0.009 -2.034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:2002110 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 synonymous_variant 2.063975 0.0654 0.00471 0.732398 0.869484691958039 0 2.03780827176675e-10 FALSE 8.13557e-06 ENSE00001088371_022 ENSE00001088371 022 7 2041649 2041818 - 51 57 62 C A 2041745 39 74 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGAGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002109 2002110 2002110 exon 12 0.210526315789474 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCTCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 25 496 0.921496880438297 0.993615869801364 0.95755637511983 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA -0.0710910730833868 0.09949134344582 0.978659862340085 0.943356239938614 NA 0.0142001351812166 NA FALSE NA 0.009 -2.034 NA NA NA MAD1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAD1L1 NA NA NA ENSG00000002822 ENSE00001088371 synonymous_variant 2.288122 0.06815 0.00633 0.732398 0.838499999045441 0 2.03780827176675e-10 FALSE 8.13557e-06 ENSE00001088371_024 ENSE00001088371 024 7 2041649 2041818 - 51 57 62 A G 2041754 41 65 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGGGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002118 2002119 2002119 exon 3 0.0526315789473684 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCCCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 618 412 0.99196813200478 0.9106897355415 0.95132893377314 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA -0.000619821516904095 0.0165652091859564 0.978659862340085 0.943356239938614 NA 0.00797269383452615 NA FALSE NA 1 1.528 . splice_region_variant&synonymous_variant LOW MAD1L1 HGNC 6762 ENST00000406869 14/19 1 NA GAG A,G 8.265e-06 7:2002119 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 splice_region_variant 1.699796 0.95508 0.65085 0.732398 0.768310487412431 0 2.03780827176675e-10 FALSE 4.06739e-06 ENSE00001088371_025 ENSE00001088371 025 7 2041649 2041818 - 51 57 62 C A 2041760 42 59 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGAAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002124 2002125 2002125 upstr_intron -4 -0.0483870967741935 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTTCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 812 996 0.998572211179474 0.99755587387244 0.998064042525957 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00598425765779065 0.103431347516897 0.978659862340085 0.943356239938614 NA 0.0547078025873436 NA FALSE NA 0.999 0.987 . splice_region_variant&intron_variant LOW MAD1L1 HGNC 6762 ENST00000406869 13/18 1 NA GCA C,A 8.266e-06 7:2002125 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 splice_region_variant 1.182236 0.96318 0.83936 0.106106 0.768877029156449 0.384681 2.03780827176675e-10 FALSE 4.06994e-06 ENSE00001088371_026 ENSE00001088371 026 7 2041649 2041818 - 51 57 62 A G 2041774 43 45 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGGTTCGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002138 2002139 2002139 upstr_intron -18 -0.274193548387097 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAACCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 430 182 0.999135451231984 1 0.999567725615992 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00654749771030028 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0562114856773784 NA FALSE NA 0 -0.992 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 13/18 1 NA GAT A,G 2.479e-05 7:2002139 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant 0.148561 0.16904 0.00679 0.106106 0.407635495937454 0.0476044 2.03780827176675e-10 FALSE 4.88882e-05 ENSE00001088371_027 ENSE00001088371 027 7 2041649 2041818 - 51 57 62 C T 2041777 44 42 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTTGGCCTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002141 2002142 2002142 upstr_intron -21 -0.32258064516129 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCAAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 242 280 1 1 1 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0566437600613864 NA FALSE NA 0 -1.986 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 13/18 rs202116184 1 T:0.0012 T:0 T:0 NA T:0.006 T:0 T:0 TCG C,T 0.0003967 7:2002142 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant -6.6e-05 0.11443 0.00457 0.106106 0.400672692500756 0.0476044 2.03780827176675e-10 FALSE 0.000411868 ENSE00001088371_028 ENSE00001088371 028 7 2041649 2041818 - 51 57 62 C T 2041781 45 38 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCTTGAGACTGTGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002145 2002146 2002146 upstr_intron -25 -0.387096774193548 CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAAGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 126 190 1 1 1 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0566437600613864 NA FALSE NA 0 -1.198 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 13/18 1 NA CCT C,T 8.264e-06 7:2002146 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant 0.118555 0.17266 0.0041 0.106106 0.432945290123548 0.082388 2.03780827176675e-10 FALSE NA ENSE00001088371_029 ENSE00001088371 029 7 2041649 2041818 - 51 57 62 G A 2041789 46 30 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTATGGTGGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002153 2002154 2002154 upstr_intron -33 -0.516129032258065 CAGTCCTAGAAATGGGGCCTGGCCCACCATAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 124 172 0.999667644715628 0.997756243693875 0.998711944204752 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.0070796911939448 0.103631717338332 0.978659862340085 0.943356239938614 NA 0.0553557042661384 NA FALSE NA 0.002 1.368 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 13/18 1 NA TGT G,A 8.265e-06 7:2002154 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant -0.114927 0.13714 0.08834 0.106106 0.449986021330655 0.0817325 2.03780827176675e-10 FALSE 4.09159e-06 ENSE00001088371_032 ENSE00001088371 032 7 2041649 2041818 - 51 57 62 G A 2041794 49 25 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTAGGCCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002158 2002159 2002159 upstr_intron -38 -0.596774193548387 CAGTCCTAGAAATGGGGCCTGGCCTACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 268 108 1 1 1 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0566437600613864 NA FALSE NA 0 -0.782 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 13/18 1 NA TGG G,A 1.653e-05 7:2002159 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant 0.005022 0.14126 0.01282 0.088506 0.605343823866609 0.0848026 2.03780827176675e-10 FALSE 1.23046e-05 ENSE00001088371_033 ENSE00001088371 033 7 2041649 2041818 - 51 57 62 G A 2041796 50 23 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGACCAGGCCCCATTTCTAGGACTG 2002013 2002183 2002160 2002161 2002161 upstr_intron -40 -0.629032258064516 CAGTCCTAGAAATGGGGCCTGGTCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 373 217 0.999336127954203 1 0.999668063977101 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00674817443251907 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0563118240384878 NA FALSE NA 0 -0.306 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 13/18 1 NA GGC G,A 8.265e-06 7:2002161 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant -0.235999 0.08066 0.01506 0.088506 0.627209606580971 0.0476044 2.03780827176675e-10 FALSE NA ENSE00001088371_034 ENSE00001088371 034 7 2041649 2041818 - 51 57 62 G A 2041800 51 19 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAAGCCCCATTTCTAGGACTG 2002013 2002183 2002164 2002165 2002165 upstr_intron -44 -0.693548387096774 CAGTCCTAGAAATGGGGCTTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 51 379 1 0.998171820219214 0.999085910109607 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00741204647831639 0.104047293863671 0.978659862340085 0.943356239938614 NA 0.0557296701709936 NA FALSE NA 0 -2.608 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 13/18 rs542355990 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G,A 8.266e-06 7:2002165 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant -0.13028 0.10711 0.00719 0.088506 0.625538379822759 0.0476044 2.03780827176675e-10 FALSE 4.1136e-06 ENSE00001088371_035 ENSE00001088371 035 7 2041649 2041818 - 51 57 62 C T 2041803 52 16 GACCCAGGGTCCAGGTGCCCTGAATCCCAGCCACTCCCGCGTCTGACTCACCATGTCTGCTCTTTGTTTCTGGCCTCCCAGCTCCTCCAGGGCCTGCGACAGCTGAGCCTGCAAGACAAGACAGGATTCGGCCTGAGACTGTGGTGGGCCAGGCTCCATTTCTAGGACTG 2002013 2002183 2002167 2002168 2002168 upstr_intron -47 -0.741935483870968 CAGTCCTAGAAATGGAGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC CAGTCCTAGAAATGGGGCCTGGCCCACCACAGTCTCAGGCCGAATCCTGTCTTGTCTTGCAGGCTCAGCTGTCGCAGGCCCTGGAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATGGTGAGTCAGACGCGGGAGTGGCTGGGATTCAGGGCACCTGGACCCTGGGTC mutant NA NA NA NA NA 517 45 0.998397026222605 1 0.999198513111302 0.968091376208342 0.989228348471827 0.992587953521684 0.894124526355544 NA NA 0.00580907270092135 0.105875473644456 0.978659862340085 0.943356239938614 NA 0.0558422731726889 NA FALSE NA 0 -1.227 . intron_variant MODIFIER MAD1L1 HGNC 6762 ENST00000406869 13/18 1 NA CCC C,T 8.265e-06 7:2002168 MAD1L1 HGNC Symbol protein_coding 417450 ENSG00000002822 ENSE00001088371 intron_variant 0.227362 0.11602 0.01136 0.088506 0.44185135437335 0.0476044 2.03780827176675e-10 FALSE NA ENSE00001089263_000 ENSE00001089263 000 9 123287231 123287400 - 33 93 44 NA NA NA NA NA GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT 120524952 120525122 NA NA NA NA NA NA GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT natural 63 188 0.989084416471196 0.97132289406285 0.980203655267023 2126 1873 0.928512336694815 0.971754601501679 0.950133469098247 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 0 0 0 0 0.980203655267023 0.950133469098247 0 0 0 FALSE FALSE NA NA NA NA NA CDK5RAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK5RAP2 NA NA NA ENSG00000136861 ENSE00003576763 NA NA NA NA NA NA NA 5.70875541213003e-16 FALSE NA ENSE00001089263_004 ENSE00001089263 004 9 123287231 123287400 - 33 93 44 G A 123287276 2163 125 GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACTCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT 120524952 120525122 120524997 120524998 120524998 exon -13 0.870967741935484 GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACTCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 348 323 1 0.996865240947519 0.99843262047376 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0714876633051846 0.0251106394458406 0.980203655267023 0.950133469098247 NA 0.0482991513755126 NA FALSE NA 0.003 -0.267 . synonymous_variant LOW CDK5RAP2 HGNC 18672 ENST00000349780 11/38 1 NA GGG G,A 8.236e-06 9:120524998 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 synonymous_variant 0.439176 0.18715 0.15898 0.706548 0.385793360305126 0 5.70875541213003e-16 FALSE 4.06349e-06 ENSE00001089263_005 ENSE00001089263 005 9 123287231 123287400 - 33 93 44 G A 123287277 2164 124 GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGATCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT 120524952 120525122 120524998 120524999 120524999 exon -14 0.860215053763441 GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGATCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 489 488 0.860227451491085 1 0.930113725745543 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA -0.0682848852037301 0.0282453984983213 0.980203655267023 0.950133469098247 NA -0.0200197433527044 NA FALSE NA 0.016 1.809 rs145165171 missense_variant MODERATE CDK5RAP2 HGNC 18672 ENST00000349780 11/38 rs145165171 1 tolerated(0.72) benign(0.001) A:0.0010 A:0 A:0.0014 NA A:0 A:0.004 A:0 A:0.0002 A:0.0014 GGT G,A 0.000939 9:120524999 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 missense_variant -0.052114 0.22974 0.02957 0.706548 0.978279662687312 0 5.70875541213003e-16 FALSE 0.000735473 ENSE00001089263_006 ENSE00001089263 006 9 123287231 123287400 - 33 93 44 C T 123287284 2165 117 AGAGACAGCCACTTAAGCCAAGTGTACACTTACCTGAAATTCCTGGGTCTGTGTTTTCTGTAGGGCCTCTCTGGCTTTAGCAAAGGCAGCACTGAGCTTTTCAATTTCAGAGTTAAGTTCTTCAACCTGGGGAAAAATAATGAATACCAGCCAAGTATGTAACTGGGCTC 120524952 120525122 120525005 120525006 120525006 exon -21 0.78494623655914 GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAACACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 272 1056 0.980373402249745 0.998838359799461 0.989605881024603 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0518610655549298 0.0270837582977823 0.980203655267023 0.950133469098247 NA 0.039472411926356 NA FALSE NA 0.648 0.831 rs138995980 missense_variant MODERATE CDK5RAP2 HGNC 18672 ENST00000349780 11/38 rs138995980 1 tolerated(0.18) possibly_damaging(0.483) NA T:0.0009 T:0 GCT C,T 7.413e-05 9:120525006 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 missense_variant 3.077889 0.30898 0.2544 0.706548 0.995291496142806 0 5.70875541213003e-16 FALSE 4.87555e-05 ENSE00001089263_009 ENSE00001089263 009 9 123287231 123287400 - 33 93 44 C A 123287322 2168 79 GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCATTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT 120524952 120525122 120525043 120525044 120525044 exon 35 0.376344086021505 GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCATTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 924 349 1 1 1 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0714876633051846 0.0282453984983213 0.980203655267023 0.950133469098247 NA 0.049866530901753 NA FALSE NA 0.005 -0.986 NA NA NA CDK5RAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:120525044 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 missense_variant 3.523519 0.17016 0.0749 0.722319 0.986331163040909 0 5.70875541213003e-16 FALSE 4.0626e-06 ENSE00001089263_011 ENSE00001089263 011 9 123287231 123287400 - 33 93 44 C T 123287353 2170 48 AGAGACAGCCACTTAAGCCAAGTGTACACTTACCTGAAATTCCTGGGTCTGTGCTTTCTGTAGGGCCTCTCTGGCTTTAGCAAAGGCAGCACTGAGCTTTTCAATTTCAGAGTTAAGTTCTTTAACCTGGGGAAAAATAATGAATACCAGCCAAGTATGTAACTGGGCTC 120524952 120525122 120525074 120525075 120525075 exon 4 0.043010752688172 GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTAAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 495 96 0.983171458973714 1 0.991585729486857 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0546591222788989 0.0282453984983213 0.980203655267023 0.950133469098247 NA 0.0414522603886101 NA FALSE NA 1 3.093 . missense_variant MODERATE CDK5RAP2 HGNC 18672 ENST00000349780 11/38 1 deleterious(0.04) benign(0.002) NA TCA C,T 8.236e-06 9:120525075 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 missense_variant 3.832427 0.9804 0.97368 0.722319 0.997977083912869 0 5.70875541213003e-16 FALSE 4.06445e-06 ENSE00001089263_014 ENSE00001089263 014 9 123287231 123287400 - 33 93 44 T C 123287371 2173 30 GAGCCCAGTTACATACTTGGCTGGTATTCGTTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT 120524952 120525122 120525092 120525093 120525093 upstr_intron -15 -0.318181818181818 GAGCCCAGTTACATACTTGGCTGGTATTCGTTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 260 57 0.999524183400886 1 0.999762091700443 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0710118467060709 0.0282453984983213 0.980203655267023 0.950133469098247 NA 0.0496286226021961 NA FALSE NA 0.004 -0.725 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:120525093 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 intron_variant -0.379655 0.10784 0.00892 0.062308 0.400609266619595 0.0525103 5.70875541213003e-16 FALSE 0.000113971 ENSE00001089263_015 ENSE00001089263 015 9 123287231 123287400 - 33 93 44 T G 123287371 2174 30 GAGCCCAGTTACATACTTGGCTGGTATTCCTTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT 120524952 120525122 120525092 120525093 120525093 upstr_intron -15 -0.318181818181818 GAGCCCAGTTACATACTTGGCTGGTATTCCTTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 3288 397 0.998666062239529 1 0.999333031119765 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.070153725544714 0.0282453984983213 0.980203655267023 0.950133469098247 NA 0.0491995620215177 NA FALSE NA 0.004 -0.725 NA NA NA CDK5RAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK5RAP2 NA NA NA ENSG00000136861 ENSE00003576763 intron_variant -0.196322 0.12688 0.01216 0.062308 0.421336075421144 0.0525103 5.70875541213003e-16 FALSE 4.0704e-06 ENSE00001089263_016 ENSE00001089263 016 9 123287231 123287400 - 33 93 44 A C 123287374 2175 27 AGAGACAGCCACTTAAGCCAAGTGTACACTTACCTGAAATTCCTGGGTCTGTGCTTTCTGTAGGGCCTCTCTGGCTTTAGCAAAGGCAGCACTGAGCTTTTCAATTTCAGAGTTAAGTTCTTCAACCTGGGGAAAAATAATGACTACCAGCCAAGTATGTAACTGGGCTC 120524952 120525122 120525095 120525096 120525096 upstr_intron -18 -0.386363636363636 GAGCCCAGTTACATACTTGGCTGGTAGTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 45 16 1 1 1 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0714876633051846 0.0282453984983213 0.980203655267023 0.950133469098247 NA 0.049866530901753 NA FALSE NA 0.04 1.213 . intron_variant MODIFIER CDK5RAP2 HGNC 18672 ENST00000349780 10/37 1 NA AAT A,C 1.647e-05 9:120525096 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 intron_variant -0.445652 0.23781 0.13444 0.062308 0.44569252167498 0.0533113 5.70875541213003e-16 FALSE 8.14757e-06 ENSE00001089263_017 ENSE00001089263 017 9 123287231 123287400 - 33 93 44 A G 123287376 2176 25 AGAGACAGCCACTTAAGCCAAGTGTACACTTACCTGAAATTCCTGGGTCTGTGCTTTCTGTAGGGCCTCTCTGGCTTTAGCAAAGGCAGCACTGAGCTTTTCAATTTCAGAGTTAAGTTCTTCAACCTGGGGAAAAATAATGAATGCCAGCCAAGTATGTAACTGGGCTC 120524952 120525122 120525097 120525098 120525098 upstr_intron -20 -0.431818181818182 GAGCCCAGTTACATACTTGGCTGGCATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 825 399 0.997325818750633 0.96826661565246 0.982796217201547 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0688134820558174 -0.00348798584921828 0.980203655267023 0.950133469098247 NA 0.0326627481032996 NA FALSE NA 0 -0.613 rs147373270 intron_variant MODIFIER CDK5RAP2 HGNC 18672 ENST00000349780 10/37 rs147373270 1 G:0.0038 G:0.0129 G:0.0029 NA G:0 G:0 G:0 G:0.0116 G:0.0002 TAC A,G 0.001285 9:120525098 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 intron_variant -0.508785 0.14502 0.0369 0.062308 0.280511823558453 0.0533113 5.70875541213003e-16 FALSE 0.00113369 ENSE00001089263_018 ENSE00001089263 018 9 123287231 123287400 - 33 93 44 C T 123287378 2177 23 AGAGACAGCCACTTAAGCCAAGTGTACACTTACCTGAAATTCCTGGGTCTGTGCTTTCTGTAGGGCCTCTCTGGCTTTAGCAAAGGCAGCACTGAGCTTTTCAATTTCAGAGTTAAGTTCTTCAACCTGGGGAAAAATAATGAATACTAGCCAAGTATGTAACTGGGCTC 120524952 120525122 120525099 120525100 120525100 upstr_intron -22 -0.477272727272727 GAGCCCAGTTACATACTTGGCTAGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 152 12 1 1 1 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0714876633051846 0.0282453984983213 0.980203655267023 0.950133469098247 NA 0.049866530901753 NA FALSE NA 0 -0.349 . intron_variant MODIFIER CDK5RAP2 HGNC 18672 ENST00000349780 10/37 1 NA CCA C,T 0.0001071 9:120525100 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 intron_variant 0.081214 0.16606 0.02141 0.062308 0.489598640138252 0.0533113 5.70875541213003e-16 FALSE 8.1628e-05 ENSE00001089263_019 ENSE00001089263 019 9 123287231 123287400 - 33 93 44 C T 123287381 2178 20 AGAGACAGCCACTTAAGCCAAGTGTACACTTACCTGAAATTCCTGGGTCTGTGCTTTCTGTAGGGCCTCTCTGGCTTTAGCAAAGGCAGCACTGAGCTTTTCAATTTCAGAGTTAAGTTCTTCAACCTGGGGAAAAATAATGAATACCAGTCAAGTATGTAACTGGGCTC 120524952 120525122 120525102 120525103 120525103 upstr_intron -25 -0.545454545454545 GAGCCCAGTTACATACTTGACTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 16 69 1 1 1 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0714876633051846 0.0282453984983213 0.980203655267023 0.950133469098247 NA 0.049866530901753 NA FALSE NA 0 0.076 . intron_variant MODIFIER CDK5RAP2 HGNC 18672 ENST00000349780 10/37 1 NA GCC C,T 2.471e-05 9:120525103 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 intron_variant 0.447674 0.17324 0.05203 0.062308 0.680250172305982 0.0533113 5.70875541213003e-16 FALSE 2.04323e-05 ENSE00001089263_020 ENSE00001089263 020 9 123287231 123287400 - 33 93 44 T C 123287388 2179 13 GAGCCCAGTTACGTACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT 120524952 120525122 120525109 120525110 120525110 upstr_intron -32 -0.704545454545455 GAGCCCAGTTACGTACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT mutant NA NA NA NA NA 640 55 0.998254717139391 1 0.999127358569695 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 NA NA 0.0697423804445751 0.0282453984983213 0.980203655267023 0.950133469098247 NA 0.0489938894714482 NA FALSE NA 0 -1.189 rs71509524 intron_variant MODIFIER CDK5RAP2 HGNC 18672 ENST00000349780 10/37 rs71509524 1 C:0.0012 C:0 C:0 NA C:0 C:0.006 C:0 C:0.0009 C:0.0022 ATG T,C 0.003377 9:120525110 CDK5RAP2 HGNC Symbol protein_coding 191301 ENSG00000136861 ENSE00003576763 intron_variant -0.031402 0.1382 0.01033 0.062308 0.578420611860232 0.0533113 5.70875541213003e-16 FALSE 0.00377396 ENSE00001089263_BRK ENSE00001089263 BRK 9 123287231 123287400 - 33 93 44 A,G; T,T NA NA NA GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCTTGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGCCAAGTGTACACTTGGCTTAAGTGGCTGTCTCT 120524952 120525122 NA NA NA NA NA NA GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCTTGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGCCAAGTGTACACTTGGCTTAAGTGGCTGTCTCT GAGCCCAGTTACATACTTGGCTGGTATTCATTATTTTTCCCCAGGTTGAAGAACTTAACTCTGAAATTGAAAAGCTCAGTGCTGCCTTTGCTAAAGCCAGAGAGGCCCTACAGAAAGCACAGACCCAGGAATTTCAGGTAAGTGTACACTTGGCTTAAGTGGCTGTCTCT control 324 380 0.0633693550286403 0 0.0316846775143201 445 1082 0.152803338141798 0.000467281459912566 0.0766353098008554 0.989084416471196 0.97132289406285 0.928512336694815 0.971754601501679 -0.925715061442556 -0.97132289406285 -0.775708998553017 -0.971287320041766 0.980203655267023 0.950133469098247 -0.948518977752703 -0.873498159297392 0.0750208184553112 TRUE TRUE NA NA NA NA NA CDK5RAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK5RAP2 NA NA NA ENSG00000136861 ENSE00003576763 NA NA NA NA NA NA NA 5.70875541213003e-16 FALSE NA ENSE00001089488_000 ENSE00001089488 000 9 107554169 107554338 - 48 63 59 NA NA NA NA NA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 NA NA NA NA NA NA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA natural 31 39 0.998457298256682 1 0.999228649128341 1881 2745 0.892879346471919 0.954992690860596 0.923936018666258 0.998457298256682 1 0.892879346471919 0.954992690860596 0 0 0 0 0.999228649128341 0.923936018666258 0 0 0 FALSE FALSE NA NA NA NA NA ABCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCA1 NA NA NA ENSG00000165029 ENSE00001089488 NA NA NA NA NA NA NA 0.00165880319635912 FALSE NA ENSE00001089488_001 ENSE00001089488 001 9 107554169 107554338 - 48 63 59 T C 107554182 1292 157 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTGTTAGTTCAGACTA 104791887 104792057 104791900 104791901 104791901 downstr_intron 35 1.74468085106383 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTGTTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 754 502 0.999945407282039 1 0.99997270364102 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.10706606081012 0.0450073091394039 0.999228649128341 0.923936018666258 NA 0.076036684974762 NA FALSE NA 0 -3.218 . intron_variant MODIFIER ABCA1 HGNC 29 ENST00000374736 43/49 rs375217688 1 NA C:0 C:0.0001 ATA T,C 1.648e-05 9:104791901 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant 0.448735 0.45128 0.02217 0.088506 0.492348607913495 0.132681 0.00165880319635912 FALSE 1.66899e-05 ENSE00001089488_002 ENSE00001089488 002 9 107554169 107554338 - 48 63 59 G A 107554185 1293 154 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCTCTATTAGTTCAGACTA 104791887 104792057 104791903 104791904 104791904 downstr_intron 32 1.68085106382979 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCTCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 1562 126 0.998621863824434 0.98441661879748 0.991519241310957 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.105742517352515 0.0294239279368835 0.999228649128341 0.923936018666258 NA 0.0675832226446993 NA FALSE NA 0 0.493 . intron_variant MODIFIER ABCA1 HGNC 29 ENST00000374736 43/49 1 NA GGG G,A 8.238e-06 9:104791904 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant 0.518931 0.49326 0.02097 0.088506 0.733562580400311 0.132681 0.00165880319635912 FALSE NA ENSE00001089488_003 ENSE00001089488 003 9 107554169 107554338 - 48 63 59 C T 107554192 1294 147 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCATTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791910 104791911 104791911 downstr_intron 25 1.53191489361702 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCATTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 531 1295 1 0.815524248144764 0.907762124072382 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.107120653528081 -0.139468442715832 0.999228649128341 0.923936018666258 NA -0.0161738945938757 NA FALSE NA 0 -1.007 . intron_variant MODIFIER ABCA1 HGNC 29 ENST00000374736 43/49 1 NA ACG C,T 3.295e-05 9:104791911 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant 0.691662 0.53623 0.05587 0.088506 0.743449764785912 0.108852 0.00165880319635912 FALSE 4.53852e-05 ENSE00001089488_005 ENSE00001089488 005 9 107554169 107554338 - 48 63 59 G C 107554193 1296 146 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGGGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791911 104791912 104791912 downstr_intron 24 1.51063829787234 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGGGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 107 869 0.981076507234744 1 0.990538253617372 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.0881971607628251 0.0450073091394039 0.999228649128341 0.923936018666258 NA 0.0666022349511145 NA FALSE NA 0 0.669 NA NA NA ABCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:104791912 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant -0.218456 0.63632 0.1039 0.088506 0.648458541246538 0.108852 0.00165880319635912 FALSE 0.000816273 ENSE00001089488_006 ENSE00001089488 006 9 107554169 107554338 - 48 63 59 T C 107554199 1297 140 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTGTATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791917 104791918 104791918 downstr_intron 18 1.38297872340426 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTGTATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 58 60 1 0.873899662843923 0.936949831421961 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.107120653528081 -0.0810930280166735 0.999228649128341 0.923936018666258 NA 0.0130138127557036 NA FALSE NA 0 -2.168 . intron_variant MODIFIER ABCA1 HGNC 29 ENST00000374736 43/49 rs372225340 1 NA C:0.0002 C:0 ATA T,C 8.237e-06 9:104791918 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant -0.034985 0.44658 0.05864 0.088506 0.271105824312153 0.108852 0.00165880319635912 FALSE 1.64107e-05 ENSE00001089488_007 ENSE00001089488 007 9 107554169 107554338 - 48 63 59 C T 107554222 1298 117 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTAGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791940 104791941 104791941 exon -6 0.920634920634921 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTAGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 1177 726 0.995100284050028 0.996422259880757 0.995761271965393 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.102220937578109 0.0414295690201608 0.999228649128341 0.923936018666258 NA 0.0718252532991349 NA FALSE NA 1 7.82 . missense_variant MODERATE ABCA1 HGNC 29 ENST00000374736 43/50 1 deleterious(0.02) probably_damaging(0.979) NA CCA C,T 1.647e-05 9:104791941 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 missense_variant 7.709801 0.994 0.96733 0.6512 0.998906069915351 0 0.00165880319635912 FALSE 4.0833e-06 ENSE00001089488_008 ENSE00001089488 008 9 107554169 107554338 - 48 63 59 A G 107554226 1299 113 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCCCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791944 104791945 104791945 exon -10 0.857142857142857 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCCCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 367 303 1 0.988557278135838 0.994278639067919 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.107120653528081 0.033564587275242 0.999228649128341 0.923936018666258 NA 0.0703426204016614 NA FALSE NA 0.192 -0.393 . synonymous_variant LOW ABCA1 HGNC 29 ENST00000374736 43/50 1 NA GAG A,G 8.237e-06 9:104791945 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 synonymous_variant 1.279552 0.96317 0.24332 0.562547 0.785602140133868 0 0.00165880319635912 FALSE 4.08117e-06 ENSE00001089488_009 ENSE00001089488 009 9 107554169 107554338 - 48 63 59 G A 107554228 1300 111 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTTCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791946 104791947 104791947 exon -12 0.825396825396825 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTTCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 294 162 0.961414268037517 1 0.980707134018759 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.0685349215655982 0.0450073091394039 0.999228649128341 0.923936018666258 NA 0.056771115352501 NA FALSE NA 1 8.008 . missense_variant MODERATE ABCA1 HGNC 29 ENST00000374736 43/50 1 tolerated(0.11) possibly_damaging(0.843) NA GGA G,A 8.237e-06 9:104791947 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 missense_variant 5.717049 0.9941 0.95765 0.562547 0.998564193821147 0 0.00165880319635912 FALSE 8.1622e-06 ENSE00001089488_010 ENSE00001089488 010 9 107554169 107554338 - 48 63 59 C T 107554237 1301 102 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCATGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791955 104791956 104791956 exon -21 0.682539682539683 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCATGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 613 173 1 1 1 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.107120653528081 0.0450073091394039 0.999228649128341 0.923936018666258 NA 0.0760639813337423 NA FALSE NA 0.998 3.276 . missense_variant MODERATE ABCA1 HGNC 29 ENST00000374736 43/50 rs557173577 1 deleterious(0) benign(0.402) NA ACG C,T 0.0001318 9:104791956 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 missense_variant 5.382997 0.98851 0.89882 0.6512 0.998808775166707 0 0.00165880319635912 FALSE 9.38079e-05 ENSE00001089488_011 ENSE00001089488 011 9 107554169 107554338 - 48 63 59 G A 107554238 1302 101 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGTGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791956 104791957 104791957 exon -22 0.666666666666667 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGTGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 61 1498 0.429882952058788 0.381254699135288 0.405568825597038 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA -0.462996394413131 -0.573737991725308 0.999228649128341 0.923936018666258 NA -0.518367193069219 NA TRUE NA 0.567 0.017 rs112103305 synonymous_variant LOW ABCA1 HGNC 29 ENST00000374736 43/50 rs112103305 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 3.295e-05 9:104791957 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 synonymous_variant 1.536038 0.96686 0.18049 0.6512 0.852851919641673 0 0.00165880319635912 FALSE 2.04002e-05 ENSE00001089488_012 ENSE00001089488 012 9 107554169 107554338 - 48 63 59 C T 107554245 1303 94 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAAGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791963 104791964 104791964 exon -29 0.555555555555556 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAAGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 303 1394 0.997667921128554 0.999945380637229 0.998806650882892 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.104788574656635 0.0449526897766334 0.999228649128341 0.923936018666258 NA 0.074870632216634 NA FALSE NA 1 6.072 . missense_variant MODERATE ABCA1 HGNC 29 ENST00000374736 43/50 1 deleterious(0.05) benign(0.059) NA CCT C,T 8.237e-06 9:104791964 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 missense_variant 4.488033 0.99405 0.95288 0.6512 0.994119352721749 0 0.00165880319635912 FALSE 4.07874e-06 ENSE00001089488_014 ENSE00001089488 014 9 107554169 107554338 - 48 63 59 G A 107554264 1305 75 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGTGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791982 104791983 104791983 exon 16 0.253968253968254 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGTGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 234 1941 0.991301306175262 0.999980390863955 0.995640848519609 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.0984219597033431 0.0449877000033593 0.999228649128341 0.923936018666258 NA 0.0717048298533512 NA FALSE NA 1 1.156 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:104791983 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 missense_variant 7.10204 0.98049 0.7202 0.6512 0.99899538352874 0 0.00165880319635912 FALSE 8.17976e-06 ENSE00001089488_015 ENSE00001089488 015 9 107554169 107554338 - 48 63 59 G C 107554264 1306 75 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGGGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791982 104791983 104791983 exon 16 0.253968253968254 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGGGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 924 188 1 0.998363938286382 0.999181969143191 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.107120653528081 0.0433712474257862 0.999228649128341 0.923936018666258 NA 0.0752459504769335 NA FALSE NA 1 1.156 NA NA NA ABCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCA1 NA NA NA ENSG00000165029 ENSE00001089488 missense_variant 3.321601 0.98032 0.72843 0.6512 0.99460782138914 0 0.00165880319635912 FALSE 4.49887e-05 ENSE00001089488_016 ENSE00001089488 016 9 107554169 107554338 - 48 63 59 T C 107554270 1307 69 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAGGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791988 104791989 104791989 exon 10 0.158730158730159 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAGGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 681 649 0.996266597889278 1 0.998133298944639 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.103387251417359 0.0450073091394039 0.999228649128341 0.923936018666258 NA 0.0741972802783812 NA FALSE NA 1 1.584 . missense_variant MODERATE ABCA1 HGNC 29 ENST00000374736 43/50 1 tolerated(1) benign(0.066) NA CTT T,C 8.237e-06 9:104791989 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 missense_variant 1.578235 0.98113 0.67629 0.706548 0.812618702677942 0 0.00165880319635912 FALSE 1.2274e-05 ENSE00001089488_017 ENSE00001089488 017 9 107554169 107554338 - 48 63 59 A G 107554274 1308 65 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATACAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791992 104791993 104791993 exon 6 0.0952380952380952 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATACAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 1521 114 0.999918801544717 0.998610154450792 0.999264477997755 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.107039455072798 0.0436174635901962 0.999228649128341 0.923936018666258 NA 0.0753284593314971 NA FALSE NA 0.005 -1.134 rs34078184 synonymous_variant LOW ABCA1 HGNC 29 ENST00000374736 43/50 rs34078184 1 G:0.0377 G:0.1377 G:0.0086 NA G:0 G:0.001 G:0 G:0.1076 G:0.0013 TAT A,G 0.011 9:104791993 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 synonymous_variant 0.25238 0.61453 0.04554 0.706548 0.620062358929341 0 0.00165880319635912 FALSE 0.0086922 ENSE00001089488_018 ENSE00001089488 018 9 107554169 107554338 - 48 63 59 A G 107554276 1309 63 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATACATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104791994 104791995 104791995 exon 4 0.0634920634920635 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATACATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 130 1136 1 0.988594872509487 0.994297436254743 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.107120653528081 0.0336021816488908 0.999228649128341 0.923936018666258 NA 0.0703614175884858 NA FALSE NA 1 9.172 rs138033216 missense_variant MODERATE ABCA1 HGNC 29 ENST00000374736 43/50 rs138033216 1 deleterious(0) probably_damaging(0.986) NA G:0 G:0.0001 TAT A,G 5.766e-05 9:104791995 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 missense_variant 6.481216 0.99228 0.98403 0.706548 0.998785028377015 0 0.00165880319635912 FALSE 3.27818e-05 ENSE00001089488_020 ENSE00001089488 020 9 107554169 107554338 - 48 63 59 A G 107554284 1311 55 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTCGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104792002 104792003 104792003 upstr_intron -5 -0.0677966101694915 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTCGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 993 885 0.997613490532835 0.998955374381999 0.998284432457417 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.104734144060915 0.043962683521403 0.999228649128341 0.923936018666258 NA 0.0743484137911592 NA FALSE NA 0.965 3.249 . splice_region_variant&intron_variant LOW ABCA1 HGNC 29 ENST00000374736 42/49 1 NA CAA A,G 8.237e-06 9:104792003 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 splice_region_variant 2.02327 0.98536 0.61937 0.088506 0.94074665047918 0.973499 0.00165880319635912 FALSE 8.22761e-06 ENSE00001089488_021 ENSE00001089488 021 9 107554169 107554338 - 48 63 59 A C 107554292 1312 47 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTGTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104792010 104792011 104792011 upstr_intron -13 -0.203389830508475 TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTGTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 186 2197 0.964559554733014 0.999982676018564 0.982271115375789 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.0716802082610949 0.044989985157968 0.999228649128341 0.923936018666258 NA 0.0583350967095315 NA FALSE NA 0.007 0.109 . intron_variant MODIFIER ABCA1 HGNC 29 ENST00000374736 42/49 1 NA AAA A,C 1.648e-05 9:104792011 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant 1.394889 0.6071 0.16568 0.088506 0.79602335699538 0.357338 0.00165880319635912 FALSE 1.24181e-05 ENSE00001089488_023 ENSE00001089488 023 9 107554169 107554338 - 48 63 59 G C 107554316 1314 23 TGCTTGGGAGAGCTGTGAGTCAGTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104792034 104792035 104792035 upstr_intron -37 -0.610169491525424 TGCTTGGGAGAGCTGTGAGTCAGTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 202 450 1 1 1 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.107120653528081 0.0450073091394039 0.999228649128341 0.923936018666258 NA 0.0760639813337423 NA FALSE NA 0.002 0.616 . intron_variant MODIFIER ABCA1 HGNC 29 ENST00000374736 42/49 rs554126310 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 AGT G,C 2.472e-05 9:104792035 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant 1.171077 0.55842 0.15313 0.088506 0.856049808304511 0.295669 0.00165880319635912 FALSE 4.8723e-05 ENSE00001089488_024 ENSE00001089488 024 9 107554169 107554338 - 48 63 59 T C 107554321 1315 18 TGCTTGGGAGAGCTGTGGGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104792039 104792040 104792040 upstr_intron -42 -0.694915254237288 TGCTTGGGAGAGCTGTGGGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 1849 1025 0.945967856742943 0.998684955506106 0.972326406124525 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.053088510271024 0.0436922646455103 0.999228649128341 0.923936018666258 NA 0.0483903874582672 NA FALSE NA 0.001 0.627 . intron_variant MODIFIER ABCA1 HGNC 29 ENST00000374736 42/49 rs371605472 1 NA C:0.0002 C:0 CTC T,C 8.241e-06 9:104792040 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant 1.689151 0.62093 0.16194 0.088506 0.900810082446614 0.313166 0.00165880319635912 FALSE NA ENSE00001089488_025 ENSE00001089488 025 9 107554169 107554338 - 48 63 59 C G 107554322 1316 17 TGCTTGGGAGAGCTGTCAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104792040 104792041 104792041 upstr_intron -43 -0.711864406779661 TGCTTGGGAGAGCTGTCAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 502 527 0.991805863537789 0.999699782928937 0.995752823233363 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.0989265170658699 0.0447070920683413 0.999228649128341 0.923936018666258 NA 0.0718168045671056 NA FALSE NA 0.002 0.347 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:104792041 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089488 intron_variant 1.762289 0.62175 0.18812 0.088506 0.918943007996201 0.313166 0.00165880319635912 FALSE 6.33163e-05 ENSE00001089488_026 ENSE00001089488 026 9 107554169 107554338 - 48 63 59 C T 107554322 1317 17 TGCTTGGGAGAGCTGTAAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA 104791887 104792057 104792040 104792041 104792041 upstr_intron -43 -0.711864406779661 TGCTTGGGAGAGCTGTAAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA TGCTTGGGAGAGCTGTGAGTCACTGAGGCTTATGAATGTTTACATTTTGTTTGTTGCAGATATATAGAAGGAAGCGGAAGCCTGCTGTTGACAGGATTTGCGTGGGCATTCCTCCTGGTGAGGTAAAGACACTTTGTCTATATTGCGTTTGTCCCTATTAGTTCAGACTA mutant NA NA NA NA NA 435 314 0.992882485325916 1 0.996441242662958 0.998457298256682 1 0.892879346471919 0.954992690860596 NA NA 0.100003138853997 0.0450073091394039 0.999228649128341 0.923936018666258 NA 0.0725052239967006 NA FALSE NA 0.002 0.347 NA NA NA ABCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCA1 NA NA NA ENSG00000165029 ENSE00001089488 intron_variant 2.027231 0.57156 0.05117 0.088506 0.970773243212727 0.313166 0.00165880319635912 FALSE 9.04519e-06 ENSE00001089515_000 ENSE00001089515 000 9 107607725 107607894 - 33 93 44 NA NA NA NA NA TCCGCTTCCTGGTACTGGAAAGACACAACTTACCTCCTGGGCCAGAGTCCCAAGACTATGCAGCAATGTTTTTGTGGCTTCAGCCAGCTCCTTGCTCGGGAAGGGAGATGTAGAGTTTAGTGTTCTCTGTAATGAGAAAGAAAACTTTGTTTCTGAATTCAAATGTAAAC 104845443 104845613 NA NA NA NA NA NA GTTTACATTTGAATTCAGAAACAAAGTTTTCTTTCTCATTACAGAGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAGGTAAGTTGTGTCTTTCCAGTACCAGGAAGCGGA GTTTACATTTGAATTCAGAAACAAAGTTTTCTTTCTCATTACAGAGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAGGTAAGTTGTGTCTTTCCAGTACCAGGAAGCGGA natural NA NA NA NA NA 1256 2036 0.752690016620997 0.785871193334643 0.76928060497782 NA NA 0.752690016620997 0.785871193334643 NA NA 0 0 NA 0.76928060497782 NA 0 NA FALSE NA NA NA NA NA NA ABCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCA1 NA NA NA ENSG00000165029 ENSE00001089515 NA NA NA NA NA NA NA 0.00165880319635912 FALSE NA ENSE00001089515_001 ENSE00001089515 001 9 107607725 107607894 - 33 93 44 G T 107607736 1318 159 TCCGCTTCCTGTTACTGGAAAGACACAACTTACCTCCTGGGCCAGAGTCCCAAGACTATGCAGCAATGTTTTTGTGGCTTCAGCCAGCTCCTTGCTCGGGAAGGGAGATGTAGAGTTTAGTGTTCTCTGTAATGAGAAAGAAAACTTTGTTTCTGAATTCAAATGTAAAC 104845443 104845613 104845454 104845455 104845455 downstr_intron 22 1.6875 GTTTACATTTGAATTCAGAAACAAAGTTTTCTTTCTCATTACAGAGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAGGTAAGTTGTGTCTTTCCAGTAACAGGAAGCGGA GTTTACATTTGAATTCAGAAACAAAGTTTTCTTTCTCATTACAGAGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAGGTAAGTTGTGTCTTTCCAGTACCAGGAAGCGGA mutant NA NA NA NA NA 177 41 0.998124971382194 0.951590061769499 0.974857516575846 NA NA 0.752690016620997 0.785871193334643 NA NA 0.245434954761197 0.165718868434855 NA 0.76928060497782 NA 0.205576911598026 NA FALSE NA 0 -0.412 . intron_variant MODIFIER ABCA1 HGNC 29 ENST00000374736 8/49 1 NA GGT G 8.237e-06 9:104845455 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089515 intron_variant -0.184159 0.22249 0.09789 0.053691 0.587995309636795 0.0455939 0.00165880319635912 FALSE NA ENSE00001089515_018 ENSE00001089515 018 9 107607725 107607894 - 33 93 44 G C 107607811 1335 84 TCCGCTTCCTGGTACTGGAAAGACACAACTTACCTCCTGGGCCAGAGTCCCAAGACTATGCAGCAATGTTTTTGTGGCTTCAGCCACCTCCTTGCTCGGGAAGGGAGATGTAGAGTTTAGTGTTCTCTGTAATGAGAAAGAAAACTTTGTTTCTGAATTCAAATGTAAAC 104845443 104845613 104845529 104845530 104845530 exon 40 0.43010752688172 GTTTACATTTGAATTCAGAAACAAAGTTTTCTTTCTCATTACAGAGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGGTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAGGTAAGTTGTGTCTTTCCAGTACCAGGAAGCGGA GTTTACATTTGAATTCAGAAACAAAGTTTTCTTTCTCATTACAGAGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAGGTAAGTTGTGTCTTTCCAGTACCAGGAAGCGGA mutant NA NA NA NA NA 104 85 1 1 1 NA NA 0.752690016620997 0.785871193334643 NA NA 0.247309983379003 0.214128806665357 NA 0.76928060497782 NA 0.23071939502218 NA FALSE NA 0.94 1.943 . missense_variant MODERATE ABCA1 HGNC 29 ENST00000374736 8/50 1 tolerated(0.7) benign(0.003) NA AGC G 8.236e-06 9:104845530 ABCA1 HGNC Symbol protein_coding 147235 ENSG00000165029 ENSE00001089515 missense_variant 0.296246 0.97379 0.85614 0.615465 0.907516643203716 0 0.00165880319635912 FALSE 1.21884e-05 ENSE00001089515_BRK ENSE00001089515 BRK 9 107607725 107607894 - 33 93 44 A,G; T,T NA NA NA TCCGCTTCCTGGTACTGGAAAGACACAACTTGGCTCCTGGGCCAGAGTCCCAAGACTATGCAGCAATGTTTTTGTGGCTTCAGCCAGCTCCTTGCTCGGGAAGGGAGATGTAGAGTTTAGTGTTCTAAGTAATGAGAAAGAAAACTTTGTTTCTGAATTCAAATGTAAAC 104845443 104845613 NA NA NA NA NA NA GTTTACATTTGAATTCAGAAACAAAGTTTTCTTTCTCATTACTTAGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAGCCAAGTTGTGTCTTTCCAGTACCAGGAAGCGGA GTTTACATTTGAATTCAGAAACAAAGTTTTCTTTCTCATTACAGAGAACACTAAACTCTACATCTCCCTTCCCGAGCAAGGAGCTGGCTGAAGCCACAAAAACATTGCTGCATAGTCTTGGGACTCTGGCCCAGGAGGTAAGTTGTGTCTTTCCAGTACCAGGAAGCGGA control 17 42 0 0 0 NA NA NA NA NA NA NA 0.752690016620997 0.785871193334643 NA NA NA NA NA 0.76928060497782 NA NA NA NA NA NA NA NA NA NA ABCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCA1 NA NA NA ENSG00000165029 ENSE00001089515 NA NA NA NA NA NA NA 0.00165880319635912 FALSE NA ENSE00001089895_000 ENSE00001089895 000 9 72090932 72091101 - 32 96 42 NA NA NA NA NA GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 NA NA NA NA NA NA GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG natural 45 21 0.986041676884136 1 0.993020838442068 3386 3072 0.96638616426552 0.92968353398624 0.94803484912588 0.986041676884136 1 0.96638616426552 0.92968353398624 0 0 0 0 0.993020838442068 0.94803484912588 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001089895 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00001089895_017 ENSE00001089895 017 9 72090932 72091101 - 32 96 42 G C 72091034 552 68 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCGCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476117 69476118 69476118 exon 26 0.270833333333333 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCGCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 464 260 1 1 1 0.986041676884136 1 0.96638616426552 0.92968353398624 NA NA 0.0336138357344796 0.0703164660137597 0.993020838442068 0.94803484912588 NA 0.0519651508741197 NA FALSE NA 1 7.442 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001089895 missense_variant 5.183613 0.99378 0.98392 0.554377 0.995589825769323 0 0.000257274838666869 FALSE 1.62784e-05 ENSE00001089895_021 ENSE00001089895 021 9 72090932 72091101 - 32 96 42 G A 72091050 556 52 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTTCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476133 69476134 69476134 exon 10 0.104166666666667 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTTCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 146 384 1 0.997789419149083 0.998894709574542 0.986041676884136 1 0.96638616426552 0.92968353398624 NA NA 0.0336138357344796 0.0681058851628429 0.993020838442068 0.94803484912588 NA 0.0508598604486613 NA FALSE NA 1 4.505 NA NA NA APBA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APBA1 NA NA NA ENSG00000107282 ENSE00001089895 missense_variant 2.634736 0.98608 0.91648 0.554377 0.991750712679458 0 0.865841338704799 FALSE 4.07717e-06 ENSE00001089895_BRK ENSE00001089895 BRK 9 72090932 72091101 - 32 96 42 A,G; T,T NA NA NA GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTTTTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGCCAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 NA NA NA NA NA NA GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTTTTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGCCAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG control NA NA NA NA NA 1321 221 0.0225257420816618 0 0.0112628710408309 0.986041676884136 1 0.96638616426552 0.92968353398624 NA NA -0.943860422183859 -0.92968353398624 0.993020838442068 0.94803484912588 NA -0.936771978085049 NA TRUE NA NA NA NA NA NA APBA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APBA1 NA NA NA ENSG00000107282 ENSE00001089895 NA NA NA NA NA NA NA 0.865841338704799 FALSE NA ENSE00001090284_000 ENSE00001090284 000 8 42163816 42163985 + 45 90 35 NA NA NA NA NA ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT 42306297 42306467 NA NA NA NA NA NA ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT natural 100 177 0.85 0.84373291923939 0.846866459619695 975 1681 0.961977990043435 0.965920608694437 0.963949299368936 0.85 0.84373291923939 0.961977990043435 0.965920608694437 0 0 0 0 0.846866459619695 0.963949299368936 0 0 0 FALSE FALSE NA NA NA NA NA IKBKB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IKBKB NA NA NA ENSG00000104365 ENSE00003493146 NA NA NA NA NA NA NA 0.998786698708708 TRUE NA ENSE00001090284_001 ENSE00001090284 001 8 42163816 42163985 + 45 90 35 T A 42163828 1140 13 ATTGTGTTCTTAAAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT 42306297 42306467 42306309 42306310 42306310 upstr_intron -33 -0.711111111111111 ATTGTGTTCTTAAAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT mutant NA NA NA NA NA 13 26 0.8 0.8 0.8 0.85 0.84373291923939 0.961977990043435 0.965920608694437 NA NA -0.161977990043435 -0.165920608694437 0.846866459619695 0.963949299368936 NA -0.163949299368936 NA FALSE NA 0.046 0.686 . intron_variant&non_coding_transcript_variant MODIFIER IKBKB HGNC 5960 ENST00000517917 3/10 rs200517732 1 NA ATA T,A 8.236e-06 8:42306310 IKBKB HGNC Symbol protein_coding 61351 ENSG00000104365 ENSE00003493146 intron_variant 0.222316 0.22659 0.26426 0 0.445218961722639 0.189234 0.998786698708708 TRUE 1.22428e-05 ENSE00001090284_005 ENSE00001090284 005 8 42163816 42163985 + 45 90 35 A C 42163863 1144 48 ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTCATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT 42306297 42306467 42306344 42306345 42306345 exon 3 0.0333333333333333 ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTCATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT mutant NA NA NA NA NA 319 189 0.996862059321764 0.975622416839549 0.986242238080656 0.85 0.84373291923939 0.961977990043435 0.965920608694437 NA NA 0.0348840692783293 0.00970180814511123 0.846866459619695 0.963949299368936 NA 0.0222929387117203 NA FALSE NA 1 3.572 NA NA NA IKBKB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:42306345 IKBKB HGNC Symbol protein_coding 61351 ENSG00000104365 ENSE00003493146 missense_variant 5.605248 0.93871 0.85287 0.732398 0.998799386816935 0 0.998786698708708 TRUE 1.62464e-05 ENSE00001090284_013 ENSE00001090284 013 8 42163816 42163985 + 45 90 35 C G 42163968 1152 153 ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGGCTGTTTGCCTGTCAGCT 42306297 42306467 42306449 42306450 42306450 downstr_intron 18 1.52941176470588 ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGGCTGTTTGCCTGTCAGCT ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT mutant NA NA NA NA NA 93 84 0.8 0.803440697865511 0.801720348932755 0.85 0.84373291923939 0.961977990043435 0.965920608694437 NA NA -0.161977990043435 -0.162479910828926 0.846866459619695 0.963949299368936 NA -0.162228950436181 NA FALSE NA 0 -1.016 . intron_variant&non_coding_transcript_variant MODIFIER IKBKB HGNC 5960 ENST00000517917 4/10 rs199990196 1 NA G:0 G:0.0001 GCC C,G 1.647e-05 8:42306450 IKBKB HGNC Symbol protein_coding 61351 ENSG00000104365 ENSE00003493146 intron_variant 0.057854 0.30254 0.08204 0.099367 0.320766198828465 0.157991 0.998786698708708 TRUE 8.13895e-06 ENSE00001090284_BRK ENSE00001090284 BRK 8 42163816 42163985 + 45 90 35 A,G; T,T NA NA NA ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTTTTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGCCAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT 42306297 42306467 NA NA NA NA NA NA ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTTTTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGCCAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT ATTGTGTTCTTATAACCCTCAGCTTTCTCCTTCCTTTTGTTTTAGTTAATACACAAAATTATTGACCTAGGATATGCCAAGGAGCTGGATCAGGGCAGTCTTTGCACATCATTCGTGGGGACCCTGCAGTACCTGGTAAGAAGTGGGCCTTGCCTGTTTGCCTGTCAGCT control NA NA NA NA NA 237 429 0.0183884413667399 0.000746262589831097 0.00956735197828548 0.85 0.84373291923939 0.961977990043435 0.965920608694437 NA NA -0.943589548676695 -0.965174346104606 0.846866459619695 0.963949299368936 NA -0.954381947390651 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IKBKB NA NA NA ENSG00000104365 ENSE00003493146 NA NA NA NA NA NA NA 0.998786698708708 TRUE NA ENSE00001090508_000 ENSE00001090508 000 9 86588773 86588942 - 44 72 54 NA NA NA NA NA ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG 83973857 83974027 NA NA NA NA NA NA ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG natural 68 82 0.984924472317087 0.961164570356754 0.973044521336921 2623 1248 0.928258238378662 0.9695359752468 0.948897106812731 0.984924472317087 0.961164570356754 0.928258238378662 0.9695359752468 0 0 0 0 0.973044521336921 0.948897106812731 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003507975 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001090508_013 ENSE00001090508 013 9 86588773 86588942 - 44 72 54 G A 86588923 707 20 ATAGCCTGATCACGCTAGATACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG 83973857 83974027 83974007 83974008 83974008 upstr_intron -35 -0.62962962962963 ATAGCCTGATCACGCTAGATACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG mutant NA NA NA NA NA 322 78 0.999872124609901 1 0.99993606230495 0.984924472317087 0.961164570356754 0.928258238378662 0.9695359752468 NA NA 0.0716138862312387 0.0304640247532001 0.973044521336921 0.948897106812731 NA 0.0510389554922194 NA FALSE NA 1 4.395 NA NA NA HNRNPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HNRNPK NA NA NA ENSG00000165119 ENSE00003507975 intron_variant 2.454806 0.9318 0.87257 0.069865 0.851676849274691 0.982536 0.999782388949029 TRUE 4.11056e-06 ENSE00001090692_000 ENSE00001090692 000 7 76902969 76903138 + 42 96 32 NA NA NA NA NA TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT 77273651 77273821 NA NA NA NA NA NA TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT natural 14 16 0.994157712731634 0.85 0.922078856365817 1755 2828 0.979110056856575 0.989869260624745 0.98448965874066 0.994157712731634 0.85 0.979110056856575 0.989869260624745 0 0 0 0 0.922078856365817 0.98448965874066 0 0 0 FALSE FALSE NA NA NA NA NA CCDC146 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC146 NA NA NA ENSG00000135205 ENSE00001090692 NA NA NA NA NA NA NA 3.02024489245997e-18 FALSE NA ENSE00001090692_002 ENSE00001090692 002 7 76902969 76903138 + 42 96 32 G C 76903002 1350 34 TATTTCTTACATAAATGCATGTTTTTAAATTTTCATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT 77273651 77273821 77273684 77273685 77273685 upstr_intron -9 -0.19047619047619 TATTTCTTACATAAATGCATGTTTTTAAATTTTCATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 299 499 1 0.959592958716103 0.979796479358051 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA 0.0208899431434246 -0.0302763019086425 0.922078856365817 0.98448965874066 NA -0.00469317938260894 NA FALSE NA 0.404 0.04 . intron_variant&non_coding_transcript_variant MODIFIER CCDC146 HGNC 29296 ENST00000415740 2/10 1 NA TGA G,C 5.765e-05 7:77273685 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 intron_variant 1.629345 0.2074 0.31218 0.078448 0.675983784743033 0.513538 3.02024489245997e-18 FALSE 0.000154526 ENSE00001090692_004 ENSE00001090692 004 7 76902969 76903138 + 42 96 32 G C 76903010 1352 42 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCACATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT 77273651 77273821 77273692 77273693 77273693 upstr_intron -1 0 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCACATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 340 153 0.0098994242990415 0 0.00494971214952075 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA -0.969210632557534 -0.989869260624745 0.922078856365817 0.98448965874066 NA -0.97953994659114 NA TRUE NA 1 6.723 . intron_variant&non_coding_transcript_variant MODIFIER CCDC146 HGNC 29296 ENST00000415740 2/10 1 NA AGA G,C 8.236e-06 7:77273693 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 splice_acceptor_variant 4.965189 0.99381 0.9804 0.078448 0.99548786692891 0.985491 3.02024489245997e-18 FALSE 4.14659e-06 ENSE00001090692_005 ENSE00001090692 005 7 76902969 76903138 + 42 96 32 T C 76903012 1353 44 AGATAGAAGCTTAAATGAGCATTGATATTAACCTGTTGGGCCAAATTCCTCTTAGCTACTTCAACTTCCTTGTGAAGCTCTCGCCTTCTCTCAGATAATGTAGAATCATCTTTGGGGATAGCTTCCGTCTGGAAATCAAAATTTAAAAACATGCATTTATGTAAGAAATA 77273651 77273821 77273694 77273695 77273695 exon 2 0.0208333333333333 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGACGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 574 82 1 1 1 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA 0.0208899431434246 0.0101307393752547 0.922078856365817 0.98448965874066 NA 0.0155103412593396 NA FALSE NA 0.993 2.671 . intron_variant&non_coding_transcript_variant MODIFIER CCDC146 HGNC 29296 ENST00000415740 2/10 1 NA ATG T,C 4.942e-05 7:77273695 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 missense_variant 1.157575 0.94444 0.75224 0.554377 0.886755897945433 0 3.02024489245997e-18 FALSE 4.13897e-05 ENSE00001090692_007 ENSE00001090692 007 7 76902969 76903138 + 42 96 32 C A 76903018 1355 50 AGATAGAAGCTTAAATGAGCATTGATATTAACCTGTTGGGCCAAATTCCTCTTAGCTACTTCAACTTCCTTGTGAAGCTCTCGCCTTCTCTCAGATAATGTAGAATCATCTTTGGGGATATCTTCCATCTGGAAATCAAAATTTAAAAACATGCATTTATGTAAGAAATA 77273651 77273821 77273700 77273701 77273701 exon 8 0.0833333333333333 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGATATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 47 286 1 1 1 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA 0.0208899431434246 0.0101307393752547 0.922078856365817 0.98448965874066 NA 0.0155103412593396 NA FALSE NA 0.003 0.351 . intron_variant&non_coding_transcript_variant MODIFIER CCDC146 HGNC 29296 ENST00000415740 2/10 rs369894709 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GCT C,A 7.413e-05 7:77273701 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 missense_variant 4.474119 0.45178 0.10868 0.554377 0.994046885941042 0 3.02024489245997e-18 FALSE 5.36609e-05 ENSE00001090692_009 ENSE00001090692 009 7 76902969 76903138 + 42 96 32 T G 76903035 1357 67 AGATAGAAGCTTAAATGAGCATTGATATTAACCTGTTGGGCCAAATTCCTCTTAGCTACTTCAACTTCCTTGTGAAGCTCTCGCCTTCTCTCAGATAATGTAGCATCATCTTTGGGGATAGCTTCCATCTGGAAATCAAAATTTAAAAACATGCATTTATGTAAGAAATA 77273651 77273821 77273717 77273718 77273718 exon 25 0.260416666666667 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATGCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 61 487 1 0.975179602142234 0.987589801071117 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA 0.0208899431434246 -0.0146896584825118 0.922078856365817 0.98448965874066 NA 0.00310014233045641 NA FALSE NA 0.088 0.39 . intron_variant&non_coding_transcript_variant MODIFIER CCDC146 HGNC 29296 ENST00000415740 2/10 1 NA TTC T,G 8.236e-06 7:77273718 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 missense_variant -0.610529 0.20243 0.01988 0.554377 0.269329761239017 0 3.02024489245997e-18 FALSE 8.18686e-06 ENSE00001090692_012 ENSE00001090692 012 7 76902969 76903138 + 42 96 32 T G 76903046 1360 78 AGATAGAAGCTTAAATGAGCATTGATATTAACCTGTTGGGCCAAATTCCTCTTAGCTACTTCAACTTCCTTGTGAAGCTCTCGCCTTCTCTCCGATAATGTAGAATCATCTTTGGGGATAGCTTCCATCTGGAAATCAAAATTTAAAAACATGCATTTATGTAAGAAATA 77273651 77273821 77273728 77273729 77273729 exon 36 0.375 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCGGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 59 1054 1 0.990734815029293 0.995367407514647 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA 0.0208899431434246 0.000865554404548052 0.922078856365817 0.98448965874066 NA 0.0108777487739863 NA FALSE NA 0.148 -0.24 . intron_variant&non_coding_transcript_variant MODIFIER CCDC146 HGNC 29296 ENST00000415740 2/10 1 NA CTG T,G 8.236e-06 7:77273729 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 synonymous_variant 0.987432 0.92648 0.12453 0.554377 0.745174491801231 0 3.02024489245997e-18 FALSE 4.09209e-06 ENSE00001090692_018 ENSE00001090692 018 7 76902969 76903138 + 42 96 32 A C 76903092 1366 124 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGCATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT 77273651 77273821 77273774 77273775 77273775 exon -15 0.854166666666667 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGCATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 45 215 1 0.99926369467686 0.99963184733843 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA 0.0208899431434246 0.00939443405211482 0.922078856365817 0.98448965874066 NA 0.0151421885977697 NA FALSE NA 1 2.023 . intron_variant&non_coding_transcript_variant MODIFIER CCDC146 HGNC 29296 ENST00000415740 2/10 1 NA GAA A,C 2.471e-05 7:77273775 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 missense_variant 2.454761 0.97247 0.76481 0.554377 0.993280640797213 0 3.02024489245997e-18 FALSE 1.22618e-05 ENSE00001090692_024 ENSE00001090692 024 7 76902969 76903138 + 42 96 32 C T 76903122 1372 154 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTTATTTAAGCTTCTATCT 77273651 77273821 77273804 77273805 77273805 downstr_intron 16 1.51612903225806 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTTATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 83 549 1 1 1 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA 0.0208899431434246 0.0101307393752547 0.922078856365817 0.98448965874066 NA 0.0155103412593396 NA FALSE NA 0 -0.21 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:77273805 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 intron_variant 0.268861 0.18182 0.01954 0.053691 0.710858691013245 0.0656782 3.02024489245997e-18 FALSE 2.89848e-05 ENSE00001090692_026 ENSE00001090692 026 7 76902969 76903138 + 42 96 32 T G 76903124 1374 156 AGATAGAAGCTTAACTGAGCATTGATATTAACCTGTTGGGCCAAATTCCTCTTAGCTACTTCAACTTCCTTGTGAAGCTCTCGCCTTCTCTCAGATAATGTAGAATCATCTTTGGGGATAGCTTCCATCTGGAAATCAAAATTTAAAAACATGCATTTATGTAAGAAATA 77273651 77273821 77273806 77273807 77273807 downstr_intron 18 1.58064516129032 TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCAGTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT mutant NA NA NA NA NA 129 128 1 0.999702126552899 0.99985106327645 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA 0.0208899431434246 0.0098328659281538 0.922078856365817 0.98448965874066 NA 0.0153614045357892 NA FALSE NA 0 -0.981 NA NA NA CCDC146 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:77273807 CCDC146 HGNC Symbol protein_coding 207099 ENSG00000135205 ENSE00001090692 intron_variant 0.086107 0.2164 0.05971 0.053691 0.612587419500492 0.0647611 3.02024489245997e-18 FALSE 8.28157e-06 ENSE00001090692_BRK ENSE00001090692 BRK 7 76902969 76903138 + 42 96 32 A,G; T,T NA NA NA TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCTTATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGCCTAATATCAATGCTCATTTAAGCTTCTATCT 77273651 77273821 NA NA NA NA NA NA TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCTTATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGCCTAATATCAATGCTCATTTAAGCTTCTATCT TATTTCTTACATAAATGCATGTTTTTAAATTTTGATTTCCAGATGGAAGCTATCCCCAAAGATGATTCTACATTATCTGAGAGAAGGCGAGAGCTTCACAAGGAAGTTGAAGTAGCTAAGAGGAATTTGGCCCAACAGGTTAATATCAATGCTCATTTAAGCTTCTATCT control NA NA NA NA NA 75 537 0 0 0 0.994157712731634 0.85 0.979110056856575 0.989869260624745 NA NA -0.979110056856575 -0.989869260624745 0.922078856365817 0.98448965874066 NA -0.98448965874066 NA TRUE NA NA NA NA NA NA CCDC146 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC146 NA NA NA ENSG00000135205 ENSE00001090692 NA NA NA NA NA NA NA 3.02024489245997e-18 FALSE NA ENSE00001090928_000 ENSE00001090928 000 X 8591601 8591770 - 48 63 59 NA NA NA NA NA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA 8623559 8623729 NA NA NA NA NA NA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA natural NA NA NA NA NA 1576 2259 0.933575299288137 0.920347890331578 0.926961594809858 NA NA 0.933575299288137 0.920347890331578 NA NA 0 0 NA 0.926961594809858 NA 0 NA FALSE NA NA NA NA NA NA KAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANOS1 NA NA NA ENSG00000011201 ENSE00001090928 NA NA NA NA NA NA NA NA NA NA ENSE00001090928_001 ENSE00001090928 001 X 8591601 8591770 - 48 63 59 G A 8591628 54 143 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTATTTAAAACACTTGACCCAAATCTGACTA 8623559 8623729 8623586 8623587 8623587 downstr_intron 21 1.4468085106383 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTATTTAAAACACTTGACCCAAATCTGACTA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA mutant NA NA NA NA NA 199 265 0.996856066187683 0.992560464570004 0.994708265378843 NA NA 0.933575299288137 0.920347890331578 NA NA 0.0632807668995459 0.0722125742384256 NA 0.926961594809858 NA 0.0677466705689858 NA FALSE NA 0.004 1.28 . intron_variant MODIFIER KAL1 HGNC 6211 ENST00000262648 3/13 1 NA AGT G 8.239e-06 X:8623587 ANOS1 HGNC Symbol protein_coding 203312 ENSG00000011201 ENSE00001090928 intron_variant -0.152693 0.0886 0.01737 0 0.436495915017843 0.0448206 NA NA 5.75609e-06 ENSE00001090928_005 ENSE00001090928 005 X 8591601 8591770 - 48 63 59 G T 8591639 58 132 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAAAGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA 8623559 8623729 8623597 8623598 8623598 downstr_intron 10 1.21276595744681 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAAAGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA mutant NA NA NA NA NA 47 110 1 0.986080770197934 0.993040385098967 NA NA 0.933575299288137 0.920347890331578 NA NA 0.0664247007118626 0.0657328798663562 NA 0.926961594809858 NA 0.0660787902891094 NA FALSE NA 0 -1.729 NA NA NA KAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:8623598 ANOS1 HGNC Symbol protein_coding 203312 ENSG00000011201 ENSE00001090928 intron_variant -0.466465 0.17663 0.02071 0 0.348285199292411 0.0455939 NA NA 5.69395e-06 ENSE00001090928_006 ENSE00001090928 006 X 8591601 8591770 - 48 63 59 C T 8591645 59 126 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAAGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA 8623559 8623729 8623603 8623604 8623604 downstr_intron 4 1.08510638297872 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAAGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA mutant NA NA NA NA NA 56 306 0.961636953795152 0.999357856281227 0.980497405038189 NA NA 0.933575299288137 0.920347890331578 NA NA 0.0280616545070144 0.0790099659496485 NA 0.926961594809858 NA 0.0535358102283314 NA FALSE NA 0.764 0.533 . splice_region_variant&intron_variant LOW KAL1 HGNC 6211 ENST00000262648 3/13 1 NA CCT C 8.237e-06 X:8623604 ANOS1 HGNC Symbol protein_coding 203312 ENSG00000011201 ENSE00001090928 splice_region_variant 0.30439 0.87309 0.05402 0 0.424827559366904 0.207346 NA NA 2.26824e-05 ENSE00001090928_007 ENSE00001090928 007 X 8591601 8591770 - 48 63 59 G C 8591658 60 113 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGGTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA 8623559 8623729 8623616 8623617 8623617 exon -10 0.857142857142857 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGGTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA mutant NA NA NA NA NA 83 613 1 1 1 NA NA 0.933575299288137 0.920347890331578 NA NA 0.0664247007118626 0.079652109668422 NA 0.926961594809858 NA 0.0730384051901423 NA FALSE NA 1 0.433 . missense_variant MODERATE KAL1 HGNC 6211 ENST00000262648 3/14 rs369207310&COSM3780574 1 tolerated(0.2) benign(0.391) NA AGC G 8.237e-06 X:8623617 ANOS1 HGNC Symbol protein_coding 203312 ENSG00000011201 ENSE00001090928 missense_variant 1.962222 0.95595 0.65423 0 0.956663493019181 0 NA NA 5.64242e-06 ENSE00001090928_008 ENSE00001090928 008 X 8591601 8591770 - 48 63 59 T C 8591673 61 98 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAGCACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA 8623559 8623729 8623631 8623632 8623632 exon -25 0.619047619047619 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAGCACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA mutant NA NA NA NA NA 569 1415 0.996275422704222 1 0.998137711352111 NA NA 0.933575299288137 0.920347890331578 NA NA 0.0627001234160848 0.079652109668422 NA 0.926961594809858 NA 0.0711761165422534 NA FALSE NA 0.995 -0.011 . synonymous_variant LOW KAL1 HGNC 6211 ENST00000262648 3/14 COSM1469768 1 NA GTT T 1.647e-05 X:8623632 ANOS1 HGNC Symbol protein_coding 203312 ENSG00000011201 ENSE00001090928 synonymous_variant -0.314932 0.65914 0.09044 0 0.69819441070821 0 NA NA 5.64621e-06 ENSE00001090928_010 ENSE00001090928 010 X 8591601 8591770 - 48 63 59 T C 8591692 63 79 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGGATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA 8623559 8623729 8623650 8623651 8623651 exon 20 0.317460317460317 TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGGATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA TTCCTCTCAGCTTTGTTTGTTTCCATGTTTTATTTATTTTTATTGTTCCTCTCTTCCAGTGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAGTGCCAAAGCTTTTGTGAGGTAGGAGAACGTCAGTGGTACTTAAAACACTTGACCCAAATCTGACTA mutant NA NA NA NA NA 37 2166 0.8 1 0.9 NA NA 0.933575299288137 0.920347890331578 NA NA -0.133575299288137 0.079652109668422 NA 0.926961594809858 NA -0.0269615948098577 NA FALSE NA 1 1.355 . missense_variant MODERATE KAL1 HGNC 6211 ENST00000262648 3/14 1 deleterious(0.01) benign(0.008) NA TTC T 2.471e-05 X:8623651 ANOS1 HGNC Symbol protein_coding 203312 ENSG00000011201 ENSE00001090928 missense_variant 2.237099 0.65419 0.43685 0 0.977713149802882 0 NA NA 3.39859e-05 ENSE00001091167_000 ENSE00001091167 000 9 117044494 117044663 + 63 54 53 NA NA NA NA NA GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 NA NA NA NA NA NA GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC natural 31 76 0.972485958808465 0.850156833813589 0.911321396311027 871 764 0.8333397754871 0.99107278387372 0.91220627968041 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 0 0 0 0 0.911321396311027 0.91220627968041 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003512023 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00001091167_002 ENSE00001091167 002 9 117044494 117044663 + 63 54 53 C T 117044536 1941 43 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTTTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282255 114282256 114282256 upstr_intron -21 -0.317460317460317 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTTTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 409 177 1 1 1 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.1666602245129 0.00892721612627967 0.911321396311027 0.91220627968041 NA 0.0877937203195897 NA FALSE NA 0.001 -0.127 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 34/57 1 NA TCT C,T 8.236e-06 9:114282256 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 intron_variant 0.20904 0.12356 0.03444 0.088506 0.855851720440112 0.0447689 0.999999360727437 TRUE 8.13061e-06 ENSE00001091167_005 ENSE00001091167 005 9 117044494 117044663 + 63 54 53 G A 117044577 1944 84 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGAAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282296 114282297 114282297 exon 21 0.388888888888889 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGAAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 58 19 0.993433875074755 1 0.996716937537378 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.160094099587655 0.00892721612627967 0.911321396311027 0.91220627968041 NA 0.0845106578569673 NA FALSE NA 0.999 0.234 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114282297 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 synonymous_variant 0.826869 0.94727 0.38574 0.732398 0.640594727776684 0 0.999999360727437 TRUE 4.06105e-06 ENSE00001091167_008 ENSE00001091167 008 9 117044494 117044663 + 63 54 53 G A 117044587 1947 94 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCAAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282306 114282307 114282307 exon -24 0.574074074074074 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCAAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 127 92 0.95 1 0.975 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.1166602245129 0.00892721612627967 0.911321396311027 0.91220627968041 NA 0.0627937203195897 NA FALSE NA 1 4.94 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/58 1 NA CGA G,A 1.647e-05 9:114282307 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 missense_variant 7.119957 0.97355 0.94988 0.732398 0.998191770096605 0 0.999999360727437 TRUE 3.65497e-05 ENSE00001091167_009 ENSE00001091167 009 9 117044494 117044663 + 63 54 53 G A 117044592 1948 99 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAAGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282311 114282312 114282312 exon -19 0.666666666666667 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAAGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 366 353 1 1 1 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.1666602245129 0.00892721612627967 0.911321396311027 0.91220627968041 NA 0.0877937203195897 NA FALSE NA 1 1.995 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/58 1 NA AGG G,A 8.236e-06 9:114282312 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 synonymous_variant 1.284156 0.95464 0.75045 0.732398 0.629234722992089 0 0.999999360727437 TRUE 4.06114e-06 ENSE00001091167_010 ENSE00001091167 010 9 117044494 117044663 + 63 54 53 G T 117044593 1949 100 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGTGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282312 114282313 114282313 exon -18 0.685185185185185 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGTGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 100 215 1 1 1 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.1666602245129 0.00892721612627967 0.911321396311027 0.91220627968041 NA 0.0877937203195897 NA FALSE NA 1 6.628 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/58 1 NA GGG G,T 2.471e-05 9:114282313 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 missense_variant 6.893026 0.98705 0.98048 0.732398 0.991246394698399 0 0.999999360727437 TRUE 1.62446e-05 ENSE00001091167_012 ENSE00001091167 012 9 117044494 117044663 + 63 54 53 C T 117044596 1951 103 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCTGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282315 114282316 114282316 exon -15 0.740740740740741 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCTGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 303 46 1 1 1 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.1666602245129 0.00892721612627967 0.911321396311027 0.91220627968041 NA 0.0877937203195897 NA FALSE NA 0.997 2.608 rs141967205 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/58 rs141967205 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0001 CCG C,T 9.884e-05 9:114282316 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 missense_variant 7.880936 0.95651 0.92621 0.732398 0.995791722316584 0 0.999999360727437 TRUE 7.71636e-05 ENSE00001091167_013 ENSE00001091167 013 9 117044494 117044663 + 63 54 53 G A 117044597 1952 104 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCACACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282316 114282317 114282317 exon -14 0.759259259259259 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCACACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 565 22 0.999122651675628 1 0.999561325837814 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.165782876188528 0.00892721612627967 0.911321396311027 0.91220627968041 NA 0.0873550461574038 NA FALSE NA 0.985 1.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114282317 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 missense_variant 6.739722 0.83054 0.54811 0.732398 0.994438035984539 0 0.999999360727437 TRUE 0.00140533 ENSE00001091167_014 ENSE00001091167 014 9 117044494 117044663 + 63 54 53 G T 117044597 1953 104 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCTCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282316 114282317 114282317 exon -14 0.759259259259259 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCTCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 29 378 1 0.997234482862908 0.998617241431454 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.1666602245129 0.00616169898918806 0.911321396311027 0.91220627968041 NA 0.0864109617510439 NA FALSE NA 0.985 1.348 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003512023 missense_variant 5.396658 0.86466 0.85575 0.732398 0.991664752275906 0 0.999999360727437 TRUE 0.000101541 ENSE00001091167_015 ENSE00001091167 015 9 117044494 117044663 + 63 54 53 A T 117044599 1954 106 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCTCTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282318 114282319 114282319 exon -12 0.796296296296296 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCTCTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 151 51 0.973289019008491 1 0.986644509504246 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.139949243521391 0.00892721612627967 0.911321396311027 0.91220627968041 NA 0.0744382298238353 NA FALSE NA 0.635 0.677 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/58 1 NA CAC A,T 8.236e-06 9:114282319 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 missense_variant 2.336743 0.34973 0.35566 0.732398 0.836656294584411 0 0.999999360727437 TRUE 4.06105e-06 ENSE00001091167_016 ENSE00001091167 016 9 117044494 117044663 + 63 54 53 G A 117044602 1955 109 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTAGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282321 114282322 114282322 exon -9 0.851851851851852 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTAGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 450 123 0.991751233710398 0.969319578598133 0.980535406154265 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.158411458223298 -0.0217532052755878 0.911321396311027 0.91220627968041 NA 0.0683291264738552 NA FALSE NA 1 6.298 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/58 1 NA TGG G,A 8.236e-06 9:114282322 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 missense_variant 6.315666 0.9633 0.97417 0.732398 0.996936488634974 0 0.999999360727437 TRUE 4.06121e-06 ENSE00001091167_018 ENSE00001091167 018 9 117044494 117044663 + 63 54 53 G A 117044617 1957 124 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTATCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282336 114282337 114282337 downstr_intron 7 1.13461538461538 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTATCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 136 783 0.999697008383813 0.87074579984432 0.935221404114067 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.166357232896713 -0.1203269840294 0.911321396311027 0.91220627968041 NA 0.0230151244336564 NA FALSE NA 0 -2.714 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 35/57 1 NA TGT G,A 1.647e-05 9:114282337 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 splice_region_variant -0.295903 0.07907 0.01453 0.106106 0.400143225855882 0.0443366 0.999999360727437 TRUE 4.06164e-06 ENSE00001091167_019 ENSE00001091167 019 9 117044494 117044663 + 63 54 53 C A 117044619 1958 126 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTACCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282338 114282339 114282339 downstr_intron 9 1.17307692307692 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTACCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 474 112 1 0.998585289326422 0.999292644663211 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.1666602245129 0.00751250545270199 0.911321396311027 0.91220627968041 NA 0.0870863649828009 NA FALSE NA 0.079 0.6 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/57 1 NA TCC C,A 8.236e-06 9:114282339 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 intron_variant 0.227464 0.16347 0.13799 0.106106 0.594106832214988 0.0443366 0.999999360727437 TRUE 1.2185e-05 ENSE00001091167_020 ENSE00001091167 020 9 117044494 117044663 + 63 54 53 C G 117044620 1959 127 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCGCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282339 114282340 114282340 downstr_intron 10 1.19230769230769 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCGCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 194 279 1 0.995367802016359 0.997683901008179 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.1666602245129 0.00429501814263844 0.911321396311027 0.91220627968041 NA 0.0854776213277691 NA FALSE NA 0.001 -0.397 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114282340 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 intron_variant -0.049288 0.1291 0.04171 0.106106 0.430166713792944 0.0443366 0.999999360727437 TRUE 4.06157e-06 ENSE00001091167_022 ENSE00001091167 022 9 117044494 117044663 + 63 54 53 A C 117044628 1961 135 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGCCTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282347 114282348 114282348 downstr_intron 18 1.34615384615385 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGCCTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 239 65 0.98625320026726 0.943435217169643 0.964844208718452 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.15291342478016 -0.0476375667040769 0.911321396311027 0.91220627968041 NA 0.0526379290380415 NA FALSE NA 0 0.02 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/57 1 NA GAC A,C 8.236e-06 9:114282348 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 intron_variant -0.364449 0.06211 0.00016 0.088506 0.273263436622773 0.0496887 0.999999360727437 TRUE 4.06204e-06 ENSE00001091167_023 ENSE00001091167 023 9 117044494 117044663 + 63 54 53 G C 117044632 1962 139 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTCATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 114282351 114282352 114282352 downstr_intron 22 1.42307692307692 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTCATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 51 29 0.992503595351913 0.965798343784572 0.979150969568242 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.159163819864813 -0.0252744400891485 0.911321396311027 0.91220627968041 NA 0.066944689887832 NA FALSE NA 0 0.527 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/57 1 NA TGA G,C 8.236e-06 9:114282352 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 intron_variant -0.273492 0.11625 0.04007 0.088506 0.430418384637769 0.0496887 0.999999360727437 TRUE 4.0623e-06 ENSE00001091167_025 ENSE00001091167 025 9 117044494 117044663 + 63 54 53 C T 117044645 1964 152 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTTCCTCCCCCGCATCCCTTC 114282213 114282383 114282364 114282365 114282365 downstr_intron 35 1.67307692307692 GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTTCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC mutant NA NA NA NA NA 402 845 0.985093666834317 0.873240880762718 0.929167273798518 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 NA NA 0.151753891347217 -0.117831903111002 0.911321396311027 0.91220627968041 NA 0.0169609941181074 NA FALSE NA 0 0.178 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 35/57 1 NA TCC C,T 1.647e-05 9:114282365 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003512023 intron_variant 0.406511 0.17326 0.04534 0.088506 0.585103533811721 0.0841407 0.999999360727437 TRUE 1.62603e-05 ENSE00001091167_BRK ENSE00001091167 BRK 9 117044494 117044663 + 63 54 53 A,G; T,T NA NA NA GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCTTGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGCCAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC 114282213 114282383 NA NA NA NA NA NA GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCTTGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGCCAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC GATCCGCCTCAGTTTCCTCTCTTCTCTCATCTTTCTCTTGCTCTGTCCCTCCTCTCTCTTCAGGGTCCTGAAGGAAAATCAGGGAAGCAAGGCGAGAAGGGCCGCACTGGAGCCAAGGTAGGTGTCCCCTTCTGACTTGATAGGCCTGCGTCCCTCCCCCGCATCCCTTC control 69 125 0 0.13645472491228 0.06822736245614 NA NA NA NA NA 0.972485958808465 0.850156833813589 0.8333397754871 0.99107278387372 -0.972485958808465 -0.713702108901309 NA NA 0.911321396311027 0.91220627968041 -0.843094033854887 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003512023 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00001091204_000 ENSE00001091204 000 9 117399220 117399389 + 50 81 39 NA NA NA NA NA CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGGGGAGAAGCAGCAGTGACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 NA NA NA NA NA NA GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG natural 65 86 0.991226638944503 0.977570821228588 0.984398730086546 2743 2663 0.997924271604308 0.954152914402398 0.976038593003353 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 0 0 0 0 0.984398730086546 0.976038593003353 0 0 0 FALSE FALSE NA NA NA NA NA C9orf91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM268 NA NA NA ENSG00000157693 ENSE00001091204 NA NA NA NA NA NA NA NA NA NA ENSE00001091204_001 ENSE00001091204 001 9 117399220 117399389 + 50 81 39 T G 117399234 2106 15 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGGGGAGAAGCAGCAGTGACCACCGTGGCTCACGGGCAGCCCAACCC 114636939 114637109 114636953 114636954 114636954 upstr_intron -36 -0.7 GGGTTGGGCTGCCCGTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 223 424 0.991648964519853 0.993069094769512 0.992359029644683 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.00627530708445456 0.0389161803671141 0.984398730086546 0.976038593003353 NA 0.0163204366413298 NA FALSE NA 0 -0.8 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 6/8 1 NA CTT T,G 8.236e-06 9:114636954 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant 0.365762 0.1986 0.02435 0.295142 0.430092266914752 0.046875 NA NA 4.07561e-06 ENSE00001091204_002 ENSE00001091204 002 9 117399220 117399389 + 50 81 39 A C 117399237 2107 18 GGGTTGGGCTGCCCTTGCGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114636956 114636957 114636957 upstr_intron -33 -0.64 GGGTTGGGCTGCCCTTGCGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 145 307 0.99683555404492 1 0.99841777702246 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.00108871755938811 0.0458470855976019 0.984398730086546 0.976038593003353 NA 0.0223791840191069 NA FALSE NA 0 -0.298 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 6/8 1 NA GAG A,C 8.236e-06 9:114636957 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant -0.0604 0.19706 0.05527 0.295142 0.671911496965981 0.046875 NA NA 8.14969e-06 ENSE00001091204_003 ENSE00001091204 003 9 117399220 117399389 + 50 81 39 C T 117399242 2108 23 GGGTTGGGCTGCCCTTGAGCCATGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114636961 114636962 114636962 upstr_intron -28 -0.54 GGGTTGGGCTGCCCTTGAGCCATGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 430 170 0.969630272895835 1 0.984815136447918 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.0282939987084728 0.0458470855976019 0.984398730086546 0.976038593003353 NA 0.00877654344456452 NA FALSE NA 0 -0.726 rs191348051 intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 6/8 rs191348051 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 T:0 T:0.0001 ACG C,T 0.0004859 9:114636962 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant 0.040891 0.1854 0.03231 0.295142 0.437644937851283 0.046875 NA NA 0.000480785 ENSE00001091204_004 ENSE00001091204 004 9 117399220 117399389 + 50 81 39 G A 117399243 2109 24 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGGGGAGAAGCAGCAGTGACCACTGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114636962 114636963 114636963 upstr_intron -27 -0.52 GGGTTGGGCTGCCCTTGAGCCACAGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 1141 209 0.941329349591645 1 0.970664674795823 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.0565949220126628 0.0458470855976019 0.984398730086546 0.976038593003353 NA -0.00537391820753047 NA FALSE NA 0 -1.942 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 6/8 1 NA CGG G,A 8.236e-06 9:114636963 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant -0.640637 0.06132 0.00375 0.295142 0.567594962078677 0.046875 NA NA 4.07365e-06 ENSE00001091204_005 ENSE00001091204 005 9 117399220 117399389 + 50 81 39 G T 117399247 2110 28 GGGTTGGGCTGCCCTTGAGCCACGGTGTTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114636966 114636967 114636967 upstr_intron -23 -0.44 GGGTTGGGCTGCCCTTGAGCCACGGTGTTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 1695 159 0.998804202601029 1 0.999402101300514 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA 0.00087993099672079 0.0458470855976019 0.984398730086546 0.976038593003353 NA 0.0233635082971613 NA FALSE NA 0 -0.742 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 6/8 rs367637134 1 NA T:0 T:0.0001 GGT G,T 8.236e-06 9:114636967 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant -0.263396 0.17616 0.03135 0.295142 0.54006182094585 0.046875 NA NA 2.03583e-05 ENSE00001091204_006 ENSE00001091204 006 9 117399220 117399389 + 50 81 39 C G 117399249 2111 30 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGGGGAGAAGCAGCAGTCACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114636968 114636969 114636969 upstr_intron -21 -0.4 GGGTTGGGCTGCCCTTGAGCCACGGTGGTGACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 322 783 1 0.999797964428166 0.999898982214083 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA 0.00207572839569203 0.0456450500257679 0.984398730086546 0.976038593003353 NA 0.02386038921073 NA FALSE NA 0 0.079 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 6/8 1 NA TCA C,G 8.236e-06 9:114636969 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant 0.187363 0.19321 0.05816 0.295142 0.531424228075106 0.046875 NA NA 4.07037e-06 ENSE00001091204_007 ENSE00001091204 007 9 117399220 117399389 + 50 81 39 G A 117399256 2112 37 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGGGGAGAAGTAGCAGTGACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114636975 114636976 114636976 upstr_intron -14 -0.26 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTACTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 333 574 0.993093788255757 0.99972437412729 0.996409081191523 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.00483048334855052 0.0455714597248914 0.984398730086546 0.976038593003353 NA 0.0203704881881704 NA FALSE NA 0.015 0.065 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 6/8 rs560524831 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 8.236e-06 9:114636976 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant 0.081156 0.15784 0.01703 0.295142 0.634979111348377 0.046875 NA NA 4.06825e-06 ENSE00001091204_008 ENSE00001091204 008 9 117399220 117399389 + 50 81 39 C T 117399263 2113 44 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCTCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114636982 114636983 114636983 upstr_intron -7 -0.12 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCTCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 1440 482 0.814879272213423 0.998324493110261 0.906601882661842 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.183044999390885 0.0441715787078633 0.984398730086546 0.976038593003353 NA -0.0694367103415107 NA FALSE NA 0 -0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114636983 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 splice_region_variant 1.038879 0.10802 0.00292 0.295142 0.57017410416789 0.0812381 NA NA 0.0899484 ENSE00001091204_009 ENSE00001091204 009 9 117399220 117399389 + 50 81 39 C G 117399263 2114 44 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGGCGAGAAGCAGCAGTGACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114636982 114636983 114636983 upstr_intron -7 -0.12 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCGCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 892 840 0.797611183680836 0.906576295264518 0.852093739472677 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.200313087923472 -0.0475766191378798 0.984398730086546 0.976038593003353 NA -0.123944853530676 NA FALSE NA 0 -0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM268 NA NA NA ENSG00000157693 ENSE00001091204 splice_region_variant 0.797932 0.23724 0.05664 0.295142 0.623989466579778 0.0812381 NA NA 1.22025e-05 ENSE00001091204_010 ENSE00001091204 010 9 117399220 117399389 + 50 81 39 C T 117399264 2115 45 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCTCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114636983 114636984 114636984 upstr_intron -6 -0.1 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCTCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 495 573 0.976019950131763 0.961505070758813 0.968762510445288 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.0219043214725445 0.00735215635641451 0.984398730086546 0.976038593003353 NA -0.007276082558065 NA FALSE NA 0 0.009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114636984 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 splice_region_variant 1.392469 0.45524 0.04312 0.295142 0.729380953904116 0.0812381 NA NA 0.000146387 ENSE00001091204_011 ENSE00001091204 011 9 117399220 117399389 + 50 81 39 C A 117399264 2116 45 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGTGGAGAAGCAGCAGTGACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114636983 114636984 114636984 upstr_intron -6 -0.1 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCACACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 117 770 0.777010100646743 0.803893364681415 0.790451732664079 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.220914170957565 -0.150259549720983 0.984398730086546 0.976038593003353 NA -0.185586860339274 NA FALSE NA 0 0.009 NA NA NA C9orf91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM268 NA NA NA ENSG00000157693 ENSE00001091204 splice_region_variant 1.455685 0.46414 0.18847 0.295142 0.764071612926851 0.0812381 NA NA 1.62652e-05 ENSE00001091204_012 ENSE00001091204 012 9 117399220 117399389 + 50 81 39 A G 117399268 2117 49 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACGGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114636987 114636988 114636988 upstr_intron -2 -0.02 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACGGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 176 63 0.00691168393005636 0 0.00345584196502818 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.991012587674252 -0.954152914402398 0.984398730086546 0.976038593003353 NA -0.972582751038325 NA TRUE NA 1 4.914 . splice_acceptor_variant HIGH C9orf91 HGNC 24513 ENST00000374049 6/8 1 NA HC CAG A,G 8.236e-06 9:114636988 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 splice_acceptor_variant 4.39813 0.98248 0.94938 0.295142 0.99356411329503 0.971702 NA NA 8.13074e-06 ENSE00001091204_013 ENSE00001091204 013 9 117399220 117399389 + 50 81 39 G A 117399279 2118 60 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGATAAACCAAAGCTGTGGGGAGAAGCAGCAGTGACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114636998 114636999 114636999 exon 10 0.123456790123457 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTATCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 579 413 0.997992684626717 0.999616872288506 0.998804778457612 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA 6.84130224094526e-05 0.0454639578861076 0.984398730086546 0.976038593003353 NA 0.0227661854542585 NA FALSE NA 1 3.642 . missense_variant MODERATE C9orf91 HGNC 24513 ENST00000374049 7/9 1 tolerated(0.2) benign(0.086) NA TGT G,A 8.236e-06 9:114636999 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 missense_variant 3.290036 0.98513 0.91607 0.706298 0.998613021322417 0 NA NA 4.06421e-06 ENSE00001091204_014 ENSE00001091204 014 9 117399220 117399389 + 50 81 39 C T 117399287 2119 68 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTTGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114637006 114637007 114637007 exon 18 0.222222222222222 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTTGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 1785 453 0.995063643925511 0.99572473974665 0.99539419183608 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.00286062767879691 0.0415718253442517 0.984398730086546 0.976038593003353 NA 0.0193555988327274 NA FALSE NA 0.961 -0.314 . synonymous_variant LOW C9orf91 HGNC 24513 ENST00000374049 7/9 1 NA TCG C,T 8.236e-06 9:114637007 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 synonymous_variant 2.177786 0.94519 0.47229 0.706298 0.726477139427774 0 NA NA 1.62551e-05 ENSE00001091204_015 ENSE00001091204 015 9 117399220 117399389 + 50 81 39 G A 117399288 2120 69 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTTGAAGTAGACAAACCAAAGCTGTGGGGAGAAGCAGCAGTGACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114637007 114637008 114637008 exon 19 0.234567901234568 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCAACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 159 1434 1 0.999494161739112 0.999747080869556 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA 0.00207572839569203 0.0453412473367135 0.984398730086546 0.976038593003353 NA 0.0237084878662028 NA FALSE NA 0.998 1.276 . missense_variant MODERATE C9orf91 HGNC 24513 ENST00000374049 7/9 COSM1104427 1 tolerated(0.41) benign(0.023) NA CGA G,A 6.589e-05 9:114637008 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 missense_variant 3.866747 0.96828 0.56278 0.706298 0.996225164757389 0 NA NA 4.47035e-05 ENSE00001091204_017 ENSE00001091204 017 9 117399220 117399389 + 50 81 39 G A 117399305 2122 86 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGATATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGTACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGGGGAGAAGCAGCAGTGACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114637024 114637025 114637025 exon 36 0.444444444444444 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTACAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 1528 293 0.998016458212581 0.999347911064395 0.998682184638488 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA 9.21866082734812e-05 0.0451949966619966 0.984398730086546 0.976038593003353 NA 0.022643591635135 NA FALSE NA 1 1.083 . synonymous_variant LOW C9orf91 HGNC 24513 ENST00000374049 7/9 1 NA TGC G,A 8.236e-06 9:114637025 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 synonymous_variant 1.080636 0.96534 0.70413 0.706298 0.801647319963686 0 NA NA 4.06355e-06 ENSE00001091204_018 ENSE00001091204 018 9 117399220 117399389 + 50 81 39 A G 117399329 2123 110 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAGGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114637048 114637049 114637049 exon -22 0.740740740740741 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAGGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 2472 580 0.93476198453295 0.988591891393759 0.961676937963355 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.0631622870713582 0.0344389769913613 0.984398730086546 0.976038593003353 NA -0.0143616550399984 NA FALSE NA 0.108 0.82 . synonymous_variant LOW C9orf91 HGNC 24513 ENST00000374049 7/9 1 NA AAG A,G 8.236e-06 9:114637049 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 synonymous_variant 0.136362 0.38549 0.19452 0.706298 0.471401690485389 0 NA NA 8.12823e-06 ENSE00001091204_020 ENSE00001091204 020 9 117399220 117399389 + 50 81 39 A G 117399349 2125 130 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGGGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114637068 114637069 114637069 exon -2 0.987654320987654 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGGGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 96 563 0.974820356900961 0.979299728778623 0.977060042839792 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.0231039147033473 0.0251468143762249 0.984398730086546 0.976038593003353 NA 0.00102144983643881 NA FALSE NA 1 4.774 . missense_variant&splice_region_variant MODERATE C9orf91 HGNC 24513 ENST00000374049 7/9 1 deleterious(0) possibly_damaging(0.86) NA GAG A,G 2.471e-05 9:114637069 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 missense_variant 6.314811 0.9728 0.96091 0.706298 0.998944634650139 0 NA NA 2.03297e-05 ENSE00001091204_021 ENSE00001091204 021 9 117399220 117399389 + 50 81 39 A G 117399358 2126 139 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATGTCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114637077 114637078 114637078 downstr_intron 8 1.21052631578947 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATGTCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 76 43 1 1 1 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA 0.00207572839569203 0.0458470855976019 0.984398730086546 0.976038593003353 NA 0.023961406996647 NA FALSE NA 0 -0.361 . splice_region_variant&intron_variant LOW C9orf91 HGNC 24513 ENST00000374049 7/8 1 NA TAT A,G 8.236e-06 9:114637078 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 splice_region_variant 0.756423 0.18087 0.00834 0.099367 0.724398043616497 0.142609 NA NA 4.07083e-06 ENSE00001091204_022 ENSE00001091204 022 9 117399220 117399389 + 50 81 39 T C 117399359 2127 140 CCTGGTTTTTGTTTTGTTTTTTCACTGAAGGTATCTTACCTCTTGGCTAGTCTTCATTTCTTGAACATGATCAGACAAAAACTGCACACAGTTCTCCAGGTCGAAGTAGACAAACCAAAGCTGTGGGGAGAAGCAGCAGTGACCACCGTGGCTCAAGGGCAGCCCAACCC 114636939 114637109 114637078 114637079 114637079 downstr_intron 9 1.23684210526316 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATACCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 432 145 1 0.997872281888676 0.998936140944338 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA 0.00207572839569203 0.0437193674862781 0.984398730086546 0.976038593003353 NA 0.0228975479409851 NA FALSE NA 0 -0.089 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 7/8 1 NA ATC T,C 8.236e-06 9:114637079 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant 0.916149 0.18462 0.01005 0.099367 0.680780076047647 0.0526402 NA NA 4.08123e-06 ENSE00001091204_023 ENSE00001091204 023 9 117399220 117399389 + 50 81 39 C T 117399363 2128 144 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTTAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 114637082 114637083 114637083 downstr_intron 13 1.34210526315789 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTTAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 397 1187 0.994943432629094 0.999485363724084 0.997214398176589 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA -0.00298083897521428 0.045332449321686 0.984398730086546 0.976038593003353 NA 0.0211758051732359 NA FALSE NA 0 -1.013 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 7/8 1 NA TCA C,T 0.0001318 9:114637083 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant 0.409922 0.18076 0.00756 0.099367 0.63691592966887 0.0526402 NA NA 0.000154883 ENSE00001091204_024 ENSE00001091204 024 9 117399220 117399389 + 50 81 39 A C 117399378 2129 159 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAACCAAAAACCAGG 114636939 114637109 114637097 114637098 114637098 downstr_intron 28 1.73684210526316 GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAACCAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG mutant NA NA NA NA NA 116 332 1 1 1 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 NA NA 0.00207572839569203 0.0458470855976019 0.984398730086546 0.976038593003353 NA 0.023961406996647 NA FALSE NA 0 -1.101 . intron_variant MODIFIER C9orf91 HGNC 24513 ENST00000374049 7/8 1 NA AAC A,C 8.237e-06 9:114637098 TMEM268 HGNC Symbol protein_coding 35216 ENSG00000157693 ENSE00001091204 intron_variant 0.023919 0.2704 0.02748 0.062308 0.715985663034128 0.0526402 NA NA 4.08921e-06 ENSE00001091204_BRK ENSE00001091204 BRK 9 117399220 117399389 + 50 81 39 A,G; T,T NA NA NA GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACTTCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGCCAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG 114636939 114637109 NA NA NA NA NA NA GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACTTCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGCCAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG GGGTTGGGCTGCCCTTGAGCCACGGTGGTCACTGCTGCTTCTCCCCACAGCTTTGGTTTGTCTACTTCGACCTGGAGAACTGTGTGCAGTTTTTGTCTGATCATGTTCAAGAAATGAAGACTAGCCAAGAGGTAAGATATCTTCAGTGAAAAAACAAAACAAAAACCAGG control 30 42 0 0 0 165 430 0 0.0168750223953747 0.00843751119768733 0.991226638944503 0.977570821228588 0.997924271604308 0.954152914402398 -0.991226638944503 -0.977570821228588 -0.997924271604308 -0.937277892007023 0.984398730086546 0.976038593003353 -0.984398730086546 -0.967601081805666 0.0167976482808798 TRUE TRUE NA NA NA NA NA C9orf91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM268 NA NA NA ENSG00000157693 ENSE00001091204 NA NA NA NA NA NA NA NA NA NA ENSE00001091322_000 ENSE00001091322 000 9 126214511 126214680 - 44 72 54 NA NA NA NA NA GGGACTGATCTGTTTTGGCTCCTGACAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 NA NA NA NA NA NA GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC natural 43 20 0.992884294143619 0.999734390475676 0.996309342309647 887 1554 0.978664518246788 0.830366899950164 0.904515709098476 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 0 0 0 0 0.996309342309647 0.904515709098476 0 0 0 FALSE FALSE NA NA NA NA NA DENND1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND1A NA NA NA ENSG00000119522 ENSE00003554209 NA NA NA NA NA NA NA 0.904475401385969 TRUE NA ENSE00001091322_001 ENSE00001091322 001 9 126214511 126214680 - 44 72 54 T C 126214521 2402 160 GGGACTGATCCGTTTTGGCTCCTGACAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452241 123452242 123452242 downstr_intron 34 1.7906976744186 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACGGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 13 336 1 0.98873654246332 0.99436827123166 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA 0.0213354817532124 0.158369642513156 0.996309342309647 0.904515709098476 NA 0.0898525621331841 NA FALSE NA 0.483 0.997 . intron_variant MODIFIER DENND1A HGNC 29324 ENST00000394219 15/20 1 NA CTG T,C 8.237e-06 9:123452242 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 intron_variant 0.705594 0.63934 0.04833 0.322412 0.740197817472723 0.046323 0.904475401385969 TRUE 4.06663e-06 ENSE00001091322_002 ENSE00001091322 002 9 126214511 126214680 - 44 72 54 G A 126214528 2403 153 GGGACTGATCTGTTTTGACTCCTGACAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452248 123452249 123452249 downstr_intron 27 1.62790697674419 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGTCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 1111 276 0.999405819892172 0.999426552290563 0.999416186091367 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA 0.0207413016453841 0.169059652340398 0.996309342309647 0.904515709098476 NA 0.0949004769928913 NA FALSE NA 0.282 0.386 . intron_variant MODIFIER DENND1A HGNC 29324 ENST00000394219 15/20 1 NA GGC G,A 8.237e-06 9:123452249 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 intron_variant 0.710458 0.32008 0.0603 0.322412 0.806806380399015 0.046323 0.904475401385969 TRUE 4.06223e-06 ENSE00001091322_004 ENSE00001091322 004 9 126214511 126214680 - 44 72 54 C A 126214536 2405 145 GGGACTGATCTGTTTTGGCTCCTGAAAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452256 123452257 123452257 downstr_intron 19 1.44186046511628 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTTTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 79 918 1 0.999827682315346 0.999913841157673 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA 0.0213354817532124 0.169460782365181 0.996309342309647 0.904515709098476 NA 0.0953981320591969 NA FALSE NA 0.265 0.072 rs191608325 intron_variant MODIFIER DENND1A HGNC 29324 ENST00000394219 15/20 rs191608325 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 ACA C,A 3.295e-05 9:123452257 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 intron_variant 0.696414 0.26348 0.01658 0.322412 0.723651686279091 0.046323 0.904475401385969 TRUE 4.87409e-05 ENSE00001091322_005 ENSE00001091322 005 9 126214511 126214680 - 44 72 54 C G 126214545 2406 136 GGGACTGATCTGTTTTGGCTCCTGACAGCAAGACGAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452265 123452266 123452266 downstr_intron 10 1.23255813953488 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTCGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 934 73 0.997766688133975 1 0.998883344066988 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA 0.0191021698871874 0.169633100049836 0.996309342309647 0.904515709098476 NA 0.0943676349685115 NA FALSE NA 0.437 2.097 . intron_variant MODIFIER DENND1A HGNC 29324 ENST00000394219 15/20 1 NA CCA C,G 8.237e-06 9:123452266 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 intron_variant 1.951027 0.35112 0.13129 0.322412 0.775555244145301 0.144465 0.904475401385969 TRUE NA ENSE00001091322_011 ENSE00001091322 011 9 126214511 126214680 - 44 72 54 C T 126214579 2412 102 GGGACTGATCTGTTTTGGCTCCTGACAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCTGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452299 123452300 123452300 exon -25 0.666666666666667 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCAGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 30 77 1 1 1 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA 0.0213354817532124 0.169633100049836 0.996309342309647 0.904515709098476 NA 0.095484290901524 NA FALSE NA 0.001 -1.773 NA NA NA DENND1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:123452300 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 synonymous_variant 2.14892 0.41548 0.0221 0.732398 0.534019878155578 0 0.904475401385969 TRUE 2.03041e-05 ENSE00001091322_012 ENSE00001091322 012 9 126214511 126214680 - 44 72 54 G C 126214586 2413 95 GGGACTGATCTGTTTTGGCTCCTGACAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTCCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452306 123452307 123452307 exon -32 0.569444444444444 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGGAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 128 678 0.994739497884545 0.980778377067942 0.987758937476244 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA 0.0160749796377573 0.150411477117778 0.996309342309647 0.904515709098476 NA 0.0832432283777676 NA FALSE NA 1 9.21 . missense_variant MODERATE DENND1A HGNC 29324 ENST00000394219 15/21 1 probably_damaging(0.999) NA TGC G,C 8.236e-06 9:123452307 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 missense_variant 6.304144 0.99572 0.99438 0.732398 0.997878022792313 0 0.904475401385969 TRUE 8.12163e-06 ENSE00001091322_013 ENSE00001091322 013 9 126214511 126214680 - 44 72 54 T A 126214615 2414 66 GGGACTGATCTGTTTTGGCTCCTGACAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCACCACTTCCTTTCTATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452335 123452336 123452336 exon 12 0.166666666666667 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGTGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 294 153 0.989276547495804 0.994864935067206 0.992070741281505 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA 0.0106120292490164 0.164498035117041 0.996309342309647 0.904515709098476 NA 0.0875550321830288 NA FALSE NA 0.997 0.329 . synonymous_variant LOW DENND1A HGNC 29324 ENST00000394219 15/21 rs371886553 1 NA A:0.0002 A:0 CTC T,A 8.237e-06 9:123452336 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 synonymous_variant 0.965485 0.96782 0.85465 0.732398 0.689485027755229 0 0.904475401385969 TRUE NA ENSE00001091322_015 ENSE00001091322 015 9 126214511 126214680 - 44 72 54 A G 126214632 2416 49 GGGACTGATCTGTTTTGGCTCCTGACAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAGTAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452352 123452353 123452353 upstr_intron -6 -0.0925925925925926 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTACTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 738 159 0.801527306929077 0.908294047395249 0.854910677162163 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA -0.177137211317711 0.0779271474450847 0.996309342309647 0.904515709098476 NA -0.0496050319363131 NA FALSE NA 1 5.592 . splice_region_variant&intron_variant LOW DENND1A HGNC 29324 ENST00000394219 14/20 rs201104218 1 G:0.0006 G:0 G:0.0029 NA G:0 G:0.001 G:0 G:0 G:0.0003 AAT A,G 0.0003048 9:123452353 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 splice_region_variant 2.038543 0.98983 0.97868 0.088506 0.947360335235057 0.823398 0.904475401385969 TRUE 0.000430551 ENSE00001091322_016 ENSE00001091322 016 9 126214511 126214680 - 44 72 54 A C 126214637 2417 44 GGGACTGATCTGTTTTGGCTCCTGACAGCAAGACCAGTACTTACGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTCTATAATAAACATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 123452357 123452358 123452358 upstr_intron -11 -0.185185185185185 GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATGTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC mutant NA NA NA NA NA 252 289 0.99651924014787 0.895743573070844 0.946131406609357 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 NA NA 0.0178547219010826 0.0653766731206792 0.996309342309647 0.904515709098476 NA 0.0416156975108809 NA FALSE NA 1 3.533 rs148333583 intron_variant MODIFIER DENND1A HGNC 29324 ENST00000394219 14/20 rs148333583 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AAA A,C 8.237e-06 9:123452358 DENND1A HGNC Symbol protein_coding 550498 ENSG00000119522 ENSE00003554209 intron_variant 2.345116 0.98902 0.98216 0.088506 0.862795368485668 0.955741 0.904475401385969 TRUE NA ENSE00001091322_BRK ENSE00001091322 BRK 9 126214511 126214680 - 44 72 54 A,G; T,T NA NA NA GGGACTGATCTGTTTTGGCTCCTGACAGCAAGACCAGTACTTGGGAACTTGTAGACAGTCTTCATGGCCGGATTTGCTTTGGTCTTTACAGTATTCAGAATTGCTCCACTTCCTTTAAATAATAAAAATGTCAATTAGCAATTTGGGCTGAAGACAGAGTCATCCAACAC 123452231 123452401 NA NA NA NA NA NA GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATTTAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCCCAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC GTGTTGGATGACTCTGTCTTCAGCCCAAATTGCTAATTGACATTTTTATTATAGAAAGGAAGTGGAGCAATTCTGAATACTGTAAAGACCAAAGCAAATCCGGCCATGAAGACTGTCTACAAGTTCGTAAGTACTGGTCTTGCTGTCAGGAGCCAAAACAGATCAGTCCC control 74 12 0 0 0 170 556 0.0827072965981898 0 0.0413536482990949 0.992884294143619 0.999734390475676 0.978664518246788 0.830366899950164 -0.992884294143619 -0.999734390475676 -0.895957221648598 -0.830366899950164 0.996309342309647 0.904515709098476 -0.996309342309647 -0.863162060799381 0.133147281510266 TRUE TRUE NA NA NA NA NA DENND1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND1A NA NA NA ENSG00000119522 ENSE00003554209 NA NA NA NA NA NA NA 0.904475401385969 TRUE NA ENSE00001091502_000 ENSE00001091502 000 9 95765162 95765331 + 45 90 35 NA NA NA NA NA CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT 93002879 93003049 NA NA NA NA NA NA CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT natural 15 53 0.996053910288464 0.992034774796183 0.994044342542323 2013 878 0.995940440242233 0.995652081658413 0.995796260950323 0.996053910288464 0.992034774796183 0.995940440242233 0.995652081658413 0 0 0 0 0.994044342542323 0.995796260950323 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD3 NA NA NA ENSG00000127084 ENSE00001091502 NA NA NA NA NA NA NA 8.70335327222514e-06 FALSE NA ENSE00001091502_002 ENSE00001091502 002 9 95765162 95765331 + 45 90 35 C G 95765197 868 36 CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTGTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT 93002879 93003049 93002914 93002915 93002915 upstr_intron -10 -0.2 CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTGTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT mutant NA NA NA NA NA 261 18 1 1 1 0.996053910288464 0.992034774796183 0.995940440242233 0.995652081658413 NA NA 0.00405955975776739 0.00434791834158743 0.994044342542323 0.995796260950323 NA 0.00420373904967741 NA FALSE NA 0 -0.504 NA NA NA FGD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:93002915 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00001091502 intron_variant 0.647633 0.2005 0.04256 0.156188 0.724174831703519 0.186764 8.70335327222514e-06 FALSE 4.07063e-06 ENSE00001091502_004 ENSE00001091502 004 9 95765162 95765331 + 45 90 35 C T 95765202 870 41 CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCTGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT 93002879 93003049 93002919 93002920 93002920 upstr_intron -5 -0.0888888888888889 CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCTGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT mutant NA NA NA NA NA 15 35 1 0.989573583272729 0.994786791636364 0.996053910288464 0.992034774796183 0.995940440242233 0.995652081658413 NA NA 0.00405955975776739 -0.00607849838568375 0.994044342542323 0.995796260950323 NA -0.00100946931395818 NA FALSE NA 0 -1.277 . splice_region_variant&intron_variant LOW FGD3 HGNC 16027 ENST00000416701 3/17 rs377261451 1 NA T:0 T:0.0001 CCG C,T 9.092e-05 9:93002920 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00001091502 splice_region_variant 1.017922 0.13564 0.005 0.156188 0.575982998739628 0.186764 8.70335327222514e-06 FALSE 8.13749e-05 ENSE00001091502_013 ENSE00001091502 013 9 95765162 95765331 + 45 90 35 G A 95765277 879 116 CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCAGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT 93002879 93003049 93002994 93002995 93002995 exon -20 0.788888888888889 CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCAGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT mutant NA NA NA NA NA 160 94 0.996871997264121 0.981028365149761 0.988950181206941 0.996053910288464 0.992034774796183 0.995940440242233 0.995652081658413 NA NA 0.000931557021888518 -0.0146237165086518 0.994044342542323 0.995796260950323 NA -0.00684607974338164 NA FALSE NA 1 8.858 . missense_variant MODERATE FGD3 HGNC 16027 ENST00000416701 4/18 COSM3908942&COSM3908941 1 deleterious(0) probably_damaging(0.968) NA CGG G,A 1.654e-05 9:93002995 FGD3 HGNC Symbol protein_coding 88785 ENSG00000127084 ENSE00001091502 missense_variant 7.849592 0.99148 0.99165 0.706548 0.999494946951851 0 8.70335327222514e-06 FALSE 8.12387e-06 ENSE00001091502_BRK ENSE00001091502 BRK 9 95765162 95765331 + 45 90 35 A,G; T,T NA NA NA CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCTTCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGCCAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT 93002879 93003049 NA NA NA NA NA NA CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCTTCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGCCAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT CAAGGCTCATCTTCCCCAGGTGAGCTGCATCTCTTCTCTCCGCAGCACTCTGGCCCCCAGAAGCTTCTCCACATTGCCCAGGAGCTCCTGCACACCGAGGAGACCTATGTGAAGCGGCTGCACCTGCTGGACCAGGTAGCCCACATGGCTTGGGGGCAGTTTCAGTATCT control 128 44 0 0 0 16 171 0 0.009514946337797 0.0047574731688985 0.996053910288464 0.992034774796183 0.995940440242233 0.995652081658413 -0.996053910288464 -0.992034774796183 -0.995940440242233 -0.986137135320616 0.994044342542323 0.995796260950323 -0.994044342542323 -0.991038787781424 0.00300555476089936 TRUE TRUE NA NA NA NA NA FGD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FGD3 NA NA NA ENSG00000127084 ENSE00001091502 NA NA NA NA NA NA NA 8.70335327222514e-06 FALSE NA ENSE00001091531_000 ENSE00001091531 000 X 41495793 41495962 - 38 84 48 NA NA NA NA NA ATATCTGTTTGGCTTTTTTGCTGATTTGTTTAATTTACCTTTAGTTTCCTCCTTGCATTGAATTTCCTCAGCTGCTCTACTGTTTCTGGAAGATGAATCTTGTAGGCGTAACGATCCCGCTCCTATGTAAGATGAAAGATAATGAACATATATAACCGTTTAAAAAAGTG 41636539 41636709 NA NA NA NA NA NA CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT natural NA NA NA NA NA 3057 2249 0.951381328345367 0.988191394787013 0.96978636156619 NA NA 0.951381328345367 0.988191394787013 NA NA 0 0 NA 0.96978636156619 NA 0 NA FALSE NA NA NA NA NA NA CASK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CASK NA NA NA ENSG00000147044 ENSE00003668811 NA NA NA NA NA NA NA 0.999885704504806 TRUE NA ENSE00001091531_001 ENSE00001091531 001 X 41495793 41495962 - 38 84 48 T C 41495837 357 126 ATATCTGTTTGGCTTTTTTGCTGATTTGTTTAATTTACCTTTAGCTTCCTCCTTGCATTGAATTTCCTCAGCTGCTCTACTGTTTCTGGAAGATGAATCTTGTAGGCGTAACGATCCCGCTCCTATGTAAGATGAAAGATAATGAACATATATAACCGTTTAAAAAAGTG 41636539 41636709 41636583 41636584 41636584 exon -7 0.928571428571429 CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAGCTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT mutant NA NA NA NA NA 555 63 0.996139575786752 1 0.998069787893376 NA NA 0.951381328345367 0.988191394787013 NA NA 0.0447582474413851 0.0118086052129871 NA 0.96978636156619 NA 0.0282834263271861 NA FALSE NA 1 3.455 . synonymous_variant LOW CASK HGNC 1497 ENST00000421587 9/25 1 NA GTT T,C 1.647e-05 X:41636584 CASK HGNC Symbol protein_coding 408711 ENSG00000147044 ENSE00003668811 synonymous_variant 0.681197 0.98444 0.86368 0 0.817705015128675 0 0.999885704504806 TRUE 5.59957e-06 ENSE00001091531_002 ENSE00001091531 002 X 41495793 41495962 - 38 84 48 T C 41495855 358 108 ATATCTGTTTGGCTTTTTTGCTGATTTGTTTAATTTACCTTTAGTTTCCTCCTTGCATTGAACTTCCTCAGCTGCTCTACTGTTTCTGGAAGATGAATCTTGTAGGCGTAACGATCCCGCTCCTATGTAAGATGAAAGATAATGAACATATATAACCGTTTAAAAAAGTG 41636539 41636709 41636601 41636602 41636602 exon -25 0.714285714285714 CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAGTTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT mutant NA NA NA NA NA 68 16 1 1 1 NA NA 0.951381328345367 0.988191394787013 NA NA 0.0486186716546329 0.0118086052129871 NA 0.96978636156619 NA 0.03021363843381 NA FALSE NA 1 2.439 . synonymous_variant LOW CASK HGNC 1497 ENST00000421587 9/25 rs544979992 1 C:0 C:0 NA C:0 C:0 C:0.0194 ATT T,C 0.001796 X:41636602 CASK HGNC Symbol protein_coding 408711 ENSG00000147044 ENSE00003668811 synonymous_variant 0.908215 0.97887 0.73646 0 0.689419131987105 0 0.999885704504806 TRUE 0.00136004 ENSE00001091531_004 ENSE00001091531 004 X 41495793 41495962 - 38 84 48 G A 41495905 360 58 ATATCTGTTTGGCTTTTTTGCTGATTTGTTTAATTTACCTTTAGTTTCCTCCTTGCATTGAATTTCCTCAGCTGCTCTACTGTTTCTGGAAGATGAATCTTGTAGGCGTAACAATCCCGCTCCTATGTAAGATGAAAGATAATGAACATATATAACCGTTTAAAAAAGTG 41636539 41636709 41636651 41636652 41636652 exon 10 0.119047619047619 CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATTGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT mutant NA NA NA NA NA 282 74 1 1 1 NA NA 0.951381328345367 0.988191394787013 NA NA 0.0486186716546329 0.0118086052129871 NA 0.96978636156619 NA 0.03021363843381 NA FALSE NA 1 7.03 . missense_variant MODERATE CASK HGNC 1497 ENST00000421587 9/25 1 deleterious(0) possibly_damaging(0.816) NA CGA G,A 8.237e-06 X:41636652 CASK HGNC Symbol protein_coding 408711 ENSG00000147044 ENSE00003668811 missense_variant 7.350969 0.99198 0.96431 0 0.999375151638483 0 0.999885704504806 TRUE 5.60048e-06 ENSE00001091531_007 ENSE00001091531 007 X 41495793 41495962 - 38 84 48 T C 41495943 363 20 ATATCTGTTTGGCTTTTTTGCTGATTTGTTTAATTTACCTTTAGTTTCCTCCTTGCATTGAATTTCCTCAGCTGCTCTACTGTTTCTGGAAGATGAATCTTGTAGGCGTAACGATCCCGCTCCTATGTAAGATGAAAGATAATGAACATACATAACCGTTTAAAAAAGTG 41636539 41636709 41636689 41636690 41636690 upstr_intron -29 -0.583333333333333 CACTTTTTTAAACGGTTATGTATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT CACTTTTTTAAACGGTTATATATGTTCATTATCTTTCATCTTACATAGGAGCGGGATCGTTACGCCTACAAGATTCATCTTCCAGAAACAGTAGAGCAGCTGAGGAAATTCAATGCAAGGAGGAAACTAAAGGTAAATTAAACAAATCAGCAAAAAAGCCAAACAGATAT mutant NA NA NA NA NA 21 160 1 1 1 NA NA 0.951381328345367 0.988191394787013 NA NA 0.0486186716546329 0.0118086052129871 NA 0.96978636156619 NA 0.03021363843381 NA FALSE NA 0 -0.796 . intron_variant MODIFIER CASK HGNC 1497 ENST00000421587 8/24 rs369672215 1 NA C:0.0003 C:0 ATA T,C 2.471e-05 X:41636690 CASK HGNC Symbol protein_coding 408711 ENSG00000147044 ENSE00003668811 intron_variant 0.132276 0.19151 0.02444 0 0.485992802490444 0.155319 0.999885704504806 TRUE 1.14353e-05 ENSE00001092024_000 ENSE00001092024 000 10 23609628 23609797 - 42 75 53 NA NA NA NA NA GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG 23320698 23320868 NA NA NA NA NA NA GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG natural 10 19 0.996604877907867 0.995583972580525 0.996094425244196 786 853 1 1 1 0.996604877907867 0.995583972580525 1 1 0 0 0 0 0.996094425244196 1 0 0 0 FALSE FALSE NA NA NA NA NA C10orf67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C10orf67 NA NA NA ENSG00000179133 ENSE00001092024 NA NA NA NA NA NA NA 1.97204391780943e-06 FALSE NA ENSE00001092024_003 ENSE00001092024 003 10 23609628 23609797 - 42 75 53 C T 23609647 522 151 GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCATAGTTGTGGGCAAGGCTAG 23320698 23320868 23320717 23320718 23320718 downstr_intron 23 1.5609756097561 GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCATAGTTGTGGGCAAGGCTAG GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG mutant NA NA NA NA NA 143 400 1 0.991480519712713 0.995740259856357 0.996604877907867 0.995583972580525 1 1 NA NA 0 -0.00851948028728655 0.996094425244196 1 NA -0.00425974014364328 NA FALSE NA 0 -1.71 . intron_variant MODIFIER C10orf67 HGNC 28716 ENST00000323327 4/4 1 NA ACG C,T 9.965e-05 10:23320718 C10orf67 HGNC Symbol protein_coding 142929 ENSG00000179133 ENSE00001092024 intron_variant -0.146214 0.12093 0.00292 0.06567 0.358643183044519 0.0443366 1.97204391780943e-06 FALSE 0.000114558 ENSE00001092024_009 ENSE00001092024 009 10 23609628 23609797 - 42 75 53 C T 23609681 528 117 GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAAGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG 23320698 23320868 23320751 23320752 23320752 exon -12 0.853333333333333 GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAAGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG mutant NA NA NA NA NA 32 95 1 1 1 0.996604877907867 0.995583972580525 1 1 NA NA 0 0 0.996094425244196 1 NA 0 NA FALSE NA 0.854 3.502 NA NA NA C10orf67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:23320752 C10orf67 HGNC Symbol protein_coding 142929 ENSG00000179133 ENSE00001092024 missense_variant 5.594922 0.85655 0.68998 0.487112 0.997864726229108 0 1.97204391780943e-06 FALSE NA ENSE00001092024_011 ENSE00001092024 011 10 23609628 23609797 - 42 75 53 A G 23609720 530 78 GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCCTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG 23320698 23320868 23320790 23320791 23320791 exon 25 0.333333333333333 GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCCTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG mutant NA NA NA NA NA 223 241 1 1 1 0.996604877907867 0.995583972580525 1 1 NA NA 0 0 0.996094425244196 1 NA 0 NA FALSE NA 1 4.189 . missense_variant MODERATE C10orf67 HGNC 28716 ENST00000323327 4/5 1 deleterious(0.03) possibly_damaging(0.846) NA AAG A,G 1.66e-05 10:23320791 C10orf67 HGNC Symbol protein_coding 142929 ENSG00000179133 ENSE00001092024 missense_variant 5.416707 0.98297 0.89946 0.487112 0.996651528491979 0 1.97204391780943e-06 FALSE NA ENSE00001092024_012 ENSE00001092024 012 10 23609628 23609797 - 42 75 53 C T 23609728 531 70 GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAAAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG 23320698 23320868 23320798 23320799 23320799 exon 17 0.226666666666667 GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAAAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG mutant NA NA NA NA NA 10 77 1 1 1 0.996604877907867 0.995583972580525 1 1 NA NA 0 0 0.996094425244196 1 NA 0 NA FALSE NA 1 3.502 . missense_variant MODERATE C10orf67 HGNC 28716 ENST00000323327 4/5 1 deleterious(0.01) probably_damaging(0.998) NA TCT C,T 1.662e-05 10:23320799 C10orf67 HGNC Symbol protein_coding 142929 ENSG00000179133 ENSE00001092024 missense_variant 6.814162 0.98528 0.8604 0.487112 0.994022042882911 0 1.97204391780943e-06 FALSE NA ENSE00001092024_BRK ENSE00001092024 BRK 10 23609628 23609797 - 42 75 53 A,G; T,T NA NA NA GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCTTAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGCCGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG 23320698 23320868 NA NA NA NA NA NA GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCTTAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGCCGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG GGTCATATTTGGAAATACATTATGGTGCTTATTGCATTTATTTTTGTTTGCAGAATGAGGATAAGATGAGAAAATCCTTCAATCAGCAGTTAGCTGATGCCATAGCTGTTATCAAAGGAATGTACCAGGTGAGTTTCTGTTTCTGGTGCCGTAGTTGTGGGCAAGGCTAG control NA NA NA NA NA 590 187 0.00932407514706919 0.00171512477729359 0.00551959996218139 0.996604877907867 0.995583972580525 1 1 NA NA -0.990675924852931 -0.998284875222706 0.996094425244196 1 NA -0.994480400037819 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C10orf67 NA NA NA ENSG00000179133 ENSE00001092024 NA NA NA NA NA NA NA 1.97204391780943e-06 FALSE NA ENSE00001092094_000 ENSE00001092094 000 10 32141406 32141575 - 39 81 50 NA NA NA NA NA ACTATTTTTAAATAGAAATTCGGTGTCAAGGTTTATTACCTTTGGCAATTCCCATTCTGACCGAGATCCGTCTGCACTGTAGTAATATTGTCTACCTTGATCATCAACATGCTTGAGCCACTATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 NA NA NA NA NA NA AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT natural NA NA NA NA NA 4946 5964 0.937877822954719 0.953061927225103 0.945469875089911 NA NA 0.937877822954719 0.953061927225103 NA NA 0 0 NA 0.945469875089911 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGAP12 NA NA NA ENSG00000165322 ENSE00001092094 NA NA NA NA NA NA NA 0.00231777174845934 FALSE NA ENSE00001092094_002 ENSE00001092094 002 10 32141406 32141575 - 39 81 50 C T 32141426 716 150 ACTATTTTTAAATAGAAATTTGGTGTCAAGGTTTATTACCTTTGGCAATTCCCATTCTGACCGAGATCCGTCTGCACTGTAGTAATATTGTCTACCTTGATCATCAACATGCTTGAGCCACTATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 31852497 31852498 31852498 downstr_intron 19 1.5 AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCAAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT mutant NA NA NA NA NA 60 38 0.95100886113045 0.95 0.950504430565225 NA NA 0.937877822954719 0.953061927225103 NA NA 0.0131310381757308 -0.00306192722510334 NA 0.945469875089911 NA 0.00503455547531373 NA FALSE NA 0 -1.508 NA NA NA ARHGAP12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:31852498 ARHGAP12 HGNC Symbol protein_coding 123472 ENSG00000165322 ENSE00001092094 intron_variant -0.012815 0.24505 0.01143 0.162113 0.621060007104145 0.046323 0.00231777174845934 FALSE 8.15328e-06 ENSE00001092094_006 ENSE00001092094 006 10 32141406 32141575 - 39 81 50 T A 32141431 720 145 ACTATTTTTAAATAGAAATTCGGTGACAAGGTTTATTACCTTTGGCAATTCCCATTCTGACCGAGATCCGTCTGCACTGTAGTAATATTGTCTACCTTGATCATCAACATGCTTGAGCCACTATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 31852502 31852503 31852503 downstr_intron 14 1.36842105263158 AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGTCACCGAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT mutant NA NA NA NA NA 48 76 1 1 1 NA NA 0.937877822954719 0.953061927225103 NA NA 0.0621221770452806 0.0469380727748967 NA 0.945469875089911 NA 0.0545301249100886 NA FALSE NA 0 -0.017 . intron_variant MODIFIER ARHGAP12 HGNC 16348 ENST00000375245 5/17 rs113873092 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GTC T,A 8.237e-06 10:31852503 ARHGAP12 HGNC Symbol protein_coding 123472 ENSG00000165322 ENSE00001092094 intron_variant 0.246796 0.31784 0.14121 0.162113 0.576246828978697 0.046323 0.00231777174845934 FALSE 4.06805e-06 ENSE00001092094_011 ENSE00001092094 011 10 32141406 32141575 - 39 81 50 T C 32141460 725 116 ACTATTTTTAAATAGAAATTCGGTGTCAAGGTTTATTACCTTTGGCAATTCCCACTCTGACCGAGATCCGTCTGCACTGTAGTAATATTGTCTACCTTGATCATCAACATGCTTGAGCCACTATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 31852531 31852532 31852532 exon -16 0.814814814814815 AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAGTGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT mutant NA NA NA NA NA 1200 13 0.939977011878913 0.95 0.944988505939457 NA NA 0.937877822954719 0.953061927225103 NA NA 0.00209918892419381 -0.00306192722510334 NA 0.945469875089911 NA -0.000481369150454769 NA FALSE NA 0.997 0.386 rs2799021 synonymous_variant LOW ARHGAP12 HGNC 16348 ENST00000375245 5/18 rs2799021&COSM4144655&COSM4144654 1 C:0.2318 C:0.0545 C:0.2954 NA C:0.4127 C:0.2048 C:0.2679 C:0.0842 C:0.2123 ATT T,C 0.218 10:31852532 ARHGAP12 HGNC Symbol protein_coding 123472 ENSG00000165322 ENSE00001092094 synonymous_variant 0.191857 0.97097 0.81197 0.706298 0.620315828385471 0 0.00231777174845934 FALSE 0.222156 ENSE00001092094_013 ENSE00001092094 013 10 32141406 32141575 - 39 81 50 C A 32141467 727 109 ACTATTTTTAAATAGAAATTCGGTGTCAAGGTTTATTACCTTTGGCAATTCCCATTCTGACAGAGATCCGTCTGCACTGTAGTAATATTGTCTACCTTGATCATCAACATGCTTGAGCCACTATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 31852538 31852539 31852539 exon -23 0.728395061728395 AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCTGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT mutant NA NA NA NA NA 203 588 0.949611679126995 0.968753681594679 0.959182680360837 NA NA 0.937877822954719 0.953061927225103 NA NA 0.0117338561722756 0.015691754369576 NA 0.945469875089911 NA 0.0137128052709258 NA FALSE NA 1 7.261 NA NA NA ARHGAP12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:31852539 ARHGAP12 HGNC Symbol protein_coding 123472 ENSG00000165322 ENSE00001092094 missense_variant 7.991168 0.99551 0.98925 0.706298 0.998809257812363 0 0.00231777174845934 FALSE 4.0627e-06 ENSE00001092094_015 ENSE00001092094 015 10 32141406 32141575 - 39 81 50 T C 32141478 729 98 ACTATTTTTAAATAGAAATTCGGTGTCAAGGTTTATTACCTTTGGCAATTCCCATTCTGACCGAGATCCGTCCGCACTGTAGTAATATTGTCTACCTTGATCATCAACATGCTTGAGCCACTATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 31852549 31852550 31852550 exon -34 0.592592592592593 AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCGGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT mutant NA NA NA NA NA 323 119 0.999872520725928 0.999357814351971 0.99961516753895 NA NA 0.937877822954719 0.953061927225103 NA NA 0.061994697771209 0.0462958871268681 NA 0.945469875089911 NA 0.0541452924490385 NA FALSE NA 0.814 -0.276 rs144448237 synonymous_variant LOW ARHGAP12 HGNC 16348 ENST00000375245 5/18 rs144448237 1 NA C:0 C:0.0001 CTG T,C 1.647e-05 10:31852550 ARHGAP12 HGNC Symbol protein_coding 123472 ENSG00000165322 ENSE00001092094 synonymous_variant 0.483624 0.95214 0.54422 0.706298 0.689426061827168 0 0.00231777174845934 FALSE 8.12519e-06 ENSE00001092094_016 ENSE00001092094 016 10 32141406 32141575 - 39 81 50 T C 32141488 730 88 ACTATTTTTAAATAGAAATTCGGTGTCAAGGTTTATTACCTTTGGCAATTCCCATTCTGACCGAGATCCGTCTGCACTGTAGCAATATTGTCTACCTTGATCATCAACATGCTTGAGCCACTATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 31852559 31852560 31852560 exon 38 0.469135802469136 AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTGCTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT mutant NA NA NA NA NA 46 87 1 1 1 NA NA 0.937877822954719 0.953061927225103 NA NA 0.0621221770452806 0.0469380727748967 NA 0.945469875089911 NA 0.0545301249100886 NA FALSE NA 1 4.518 . missense_variant MODERATE ARHGAP12 HGNC 16348 ENST00000375245 5/18 1 deleterious(0) probably_damaging(0.991) NA GTA T,C 8.237e-06 10:31852560 ARHGAP12 HGNC Symbol protein_coding 123472 ENSG00000165322 ENSE00001092094 missense_variant 5.507037 0.98955 0.96718 0.706298 0.998454192001752 0 0.00231777174845934 FALSE 8.12625e-06 ENSE00001092094_018 ENSE00001092094 018 10 32141406 32141575 - 39 81 50 C A 32141523 732 53 ACTATTTTTAAATAGAAATTCGGTGTCAAGGTTTATTACCTTTGGCAATTCCCATTCTGACCGAGATCCGTCTGCACTGTAGTAATATTGTCTACCTTGATCATCAACATGCTTGAGACACTATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 31852594 31852595 31852595 exon 3 0.037037037037037 AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGTCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT mutant NA NA NA NA NA 155 54 1 0.997857307350498 0.998928653675249 NA NA 0.937877822954719 0.953061927225103 NA NA 0.0621221770452806 0.0447953801253951 NA 0.945469875089911 NA 0.0534587785853378 NA FALSE NA 1 7.261 . missense_variant&splice_region_variant MODERATE ARHGAP12 HGNC 16348 ENST00000375245 5/18 1 deleterious(0) probably_damaging(1) NA GCC C,A 8.237e-06 10:31852595 ARHGAP12 HGNC Symbol protein_coding 123472 ENSG00000165322 ENSE00001092094 missense_variant 7.532886 0.99551 0.98925 0.706298 0.993540344943042 0 0.00231777174845934 FALSE 4.06481e-06 ENSE00001092094_BRK ENSE00001092094 BRK 10 32141406 32141575 - 39 81 50 A,G; T,T NA NA NA ACTATTTTTAAATAGAAATTCGGTGTCAAGGTTTATTGGCTTTGGCAATTCCCATTCTGACCGAGATCCGTCTGCACTGTAGTAATATTGTCTACCTTGATCATCAACATGCTTGAGCCAAAATAAAAACAGAACAGGTGTTTTTTATTAAATTTAAATAAAAGTGAGTT 31852477 31852647 NA NA NA NA NA NA AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATTTTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGCCAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT AACTCACTTTTATTTAAATTTAATAAAAAACACCTGTTCTGTTTTTATAGTGGCTCAAGCATGTTGATGATCAAGGTAGACAATATTACTACAGTGCAGACGGATCTCGGTCAGAATGGGAATTGCCAAAGGTAATAAACCTTGACACCGAATTTCTATTTAAAAATAGT control NA NA NA NA NA 26 1605 0 0 0 NA NA 0.937877822954719 0.953061927225103 NA NA -0.937877822954719 -0.953061927225103 NA 0.945469875089911 NA -0.945469875089911 NA TRUE NA NA NA NA NA NA ARHGAP12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGAP12 NA NA NA ENSG00000165322 ENSE00001092094 NA NA NA NA NA NA NA 0.00231777174845934 FALSE NA ENSE00001092663_000 ENSE00001092663 000 8 30332244 30332413 + 51 78 41 NA NA NA NA NA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 NA NA NA NA NA NA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA natural NA NA NA NA NA 8747 5791 0.968948066242973 0.845211616490124 0.907079841366549 NA NA 0.968948066242973 0.845211616490124 NA NA 0 0 NA 0.907079841366549 NA 0 NA FALSE NA NA NA NA NA NA RBPMS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBPMS NA NA NA ENSG00000157110 ENSE00003495146 NA NA NA NA NA NA NA 0.783171944383471 FALSE NA ENSE00001092663_001 ENSE00001092663 001 8 30332244 30332413 + 51 78 41 C T 30332259 709 16 ACTCTCTGGAGTGTCTACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474742 30474743 30474743 upstr_intron -36 -0.686274509803922 ACTCTCTGGAGTGTCTACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 968 16 0.995493696069737 0.989984547956536 0.992739122013136 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0265456298267643 0.144772931466411 NA 0.907079841366549 NA 0.0856592806465878 NA FALSE NA 0 -0.001 . intron_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 1/4 1 NA CCA C,T 1.647e-05 8:30474743 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 intron_variant 0.682887 0.18729 0.06897 0.106106 0.735793610509834 0.306343 0.783171944383471 FALSE 1.2415e-05 ENSE00001092663_002 ENSE00001092663 002 8 30332244 30332413 + 51 78 41 C T 30332264 710 21 ACTCTCTGGAGTGTCCACACTCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474747 30474748 30474748 upstr_intron -31 -0.588235294117647 ACTCTCTGGAGTGTCCACACTCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 243 3201 1 0.998638832570329 0.999319416285165 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0310519337570274 0.153427216080205 NA 0.907079841366549 NA 0.0922395749186161 NA FALSE NA 0 -0.668 . intron_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 1/4 1 NA CCC C,T 8.236e-06 8:30474748 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 intron_variant 1.5476 0.23492 0.01713 0.106106 0.813189568819224 0.237619 0.783171944383471 FALSE 4.10472e-06 ENSE00001092663_003 ENSE00001092663 003 8 30332244 30332413 + 51 78 41 C T 30332271 711 28 ACTCTCTGGAGTGTCCACACCCTTGATTACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474754 30474755 30474755 upstr_intron -24 -0.450980392156863 ACTCTCTGGAGTGTCCACACCCTTGATTACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 45 1892 1 0.999979882952227 0.999989941476114 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0310519337570274 0.154768266462103 NA 0.907079841366549 NA 0.0929101001095651 NA FALSE NA 0 0.594 . intron_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 1/4 rs199664065 1 NA T:0 T:0.0001 TCA C,T 0.0002224 8:30474755 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 intron_variant 1.910522 0.24089 0.13531 0.106106 0.756226005083292 0.363931 0.783171944383471 FALSE 0.000237394 ENSE00001092663_004 ENSE00001092663 004 8 30332244 30332413 + 51 78 41 C A 30332276 712 33 ACTCTCTGGAGTGTCCACACCCTTGATCACTTACTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474759 30474760 30474760 upstr_intron -19 -0.352941176470588 ACTCTCTGGAGTGTCCACACCCTTGATCACTTACTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 370 631 0.996251281158052 0.999879285312697 0.998065283235374 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0273032149150797 0.154667668822572 NA 0.907079841366549 NA 0.090985441868826 NA FALSE NA 0 -0.297 . intron_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 1/4 rs572351601 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TCC C,A 0.0001235 8:30474760 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 intron_variant 1.931685 0.21365 0.05278 0.106106 0.814798489714452 0.359843 0.783171944383471 FALSE 0.000118431 ENSE00001092663_006 ENSE00001092663 006 8 30332244 30332413 + 51 78 41 G T 30332300 714 57 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGTACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474783 30474784 30474784 exon 6 0.0769230769230769 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGTACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 179 42 0.99108406504699 0.952811881809735 0.971947973428362 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0221359988040171 0.107600265319611 NA 0.907079841366549 NA 0.0648681320618139 NA FALSE NA 1 2.741 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/5 rs368733156&COSM81645 1 NA T:0.0002 T:0 GGA G,T 1.647e-05 8:30474784 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 synonymous_variant 0.948809 0.98124 0.88265 0.732398 0.73604402427495 0 0.783171944383471 FALSE 3.65788e-05 ENSE00001092663_007 ENSE00001092663 007 8 30332244 30332413 + 51 78 41 A G 30332306 715 63 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTGTTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474789 30474790 30474790 exon 12 0.153846153846154 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTGTTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 133 905 1 0.997640779539731 0.998820389769866 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0310519337570274 0.152429163049607 NA 0.907079841366549 NA 0.0917405484033171 NA FALSE NA 0 -1.578 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/5 1 NA TAT A,G 8.236e-06 8:30474790 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 synonymous_variant 0.860394 0.12121 0.02116 0.732398 0.612757068982597 0 0.783171944383471 FALSE 4.06372e-06 ENSE00001092663_008 ENSE00001092663 008 8 30332244 30332413 + 51 78 41 T G 30332321 716 78 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTGCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474804 30474805 30474805 exon 27 0.346153846153846 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTGCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 478 2958 0.995805782258101 0.999946530504913 0.997876156381507 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0268577160151285 0.154734914014789 NA 0.907079841366549 NA 0.0907963150149586 NA FALSE NA 0 -1.773 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/5 1 NA TTC T,G 1.647e-05 8:30474805 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 synonymous_variant 0.843793 0.2726 0.0263 0.732398 0.721576555122949 0 0.783171944383471 FALSE 8.12764e-06 ENSE00001092663_009 ENSE00001092663 009 8 30332244 30332413 + 51 78 41 C T 30332337 717 94 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAATCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474820 30474821 30474821 exon -36 0.551282051282051 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAATCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 65 295 1 0.983007037725454 0.991503518862727 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0310519337570274 0.13779542123533 NA 0.907079841366549 NA 0.0844236774961785 NA FALSE NA 1 6.868 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/5 1 NA ACC C,T 1.647e-05 8:30474821 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 missense_variant 6.403702 0.99226 0.96546 0.732398 0.999153551447831 0 0.783171944383471 FALSE 8.12883e-06 ENSE00001092663_010 ENSE00001092663 010 8 30332244 30332413 + 51 78 41 T C 30332349 718 106 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCCATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474832 30474833 30474833 exon -24 0.705128205128205 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCCATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 542 1205 0.994372180203251 0.994306926104924 0.994339553154088 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0254241139602785 0.1490953096148 NA 0.907079841366549 NA 0.0872597117875391 NA FALSE NA 1 7.061 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/5 rs373319357 1 NA C:0 C:0.0001 CTA T,C 8.236e-06 8:30474833 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 missense_variant 4.71266 0.98999 0.96261 0.732398 0.997889666315021 0 0.783171944383471 FALSE 4.06587e-06 ENSE00001092663_011 ENSE00001092663 011 8 30332244 30332413 + 51 78 41 C T 30332352 719 109 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATTTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474835 30474836 30474836 exon -21 0.743589743589744 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATTTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 503 60 0.999918155604139 0.996764202126965 0.998341178865552 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0309700893611667 0.15155258563684 NA 0.907079841366549 NA 0.0912613374990034 NA FALSE NA 0.99 1.636 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/5 1 NA TCT C,T 8.236e-06 8:30474836 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 synonymous_variant 1.548865 0.98256 0.81922 0.732398 0.815370108032156 0 0.783171944383471 FALSE 8.13226e-06 ENSE00001092663_012 ENSE00001092663 012 8 30332244 30332413 + 51 78 41 T G 30332382 720 139 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTGTTATCTTTCAGAAATTATAAAATGAGACAAA 30474727 30474897 30474865 30474866 30474866 downstr_intron 10 1.25 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTGTTATCTTTCAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 1134 917 0.998198677938795 0.925191491944088 0.961695084941442 NA NA 0.968948066242973 0.845211616490124 NA NA 0.0292506116958227 0.079979875453964 NA 0.907079841366549 NA 0.0546152435748933 NA FALSE NA 0.105 -0.096 . intron_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/4 rs201462610 1 NA TTT T,G 2.471e-05 8:30474866 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 intron_variant 0.672025 0.25727 0.01112 0.106106 0.735631915240355 0.153832 0.783171944383471 FALSE 1.64927e-05 ENSE00001092663_013 ENSE00001092663 013 8 30332244 30332413 + 51 78 41 T A 30332390 721 147 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTACAGAAATTATAAAATGAGACAAA 30474727 30474897 30474873 30474874 30474874 downstr_intron 18 1.45 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTACAGAAATTATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 503 4150 0.954945249058574 0.998097646503175 0.976521447780875 NA NA 0.968948066242973 0.845211616490124 NA NA -0.0140028171843983 0.152886030013051 NA 0.907079841366549 NA 0.0694416064143262 NA FALSE NA 0.499 0.816 . intron_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/4 1 NA TTC T,A 4.118e-05 8:30474874 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 intron_variant 0.395747 0.96292 0.55042 0.106106 0.442682611691004 0.176926 0.783171944383471 FALSE 6.25151e-05 ENSE00001092663_014 ENSE00001092663 014 8 30332244 30332413 + 51 78 41 T A 30332397 722 154 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAAATATAAAATGAGACAAA 30474727 30474897 30474880 30474881 30474881 downstr_intron 25 1.625 ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAAATATAAAATGAGACAAA ACTCTCTGGAGTGTCCACACCCTTGATCACTTCCTAAATTTATTTTTCCAGGTCCGGACCCTATTTGTCAGTGGCCTTCCTCTGGATATCAAACCTCGGGAGCTCTATCTGCTTTTCAGACCATTTAAGGTACCTTTTTTTATCTTTCAGAAATTATAAAATGAGACAAA mutant NA NA NA NA NA 755 286 0.98780456142121 1 0.993902280710605 NA NA 0.968948066242973 0.845211616490124 NA NA 0.018856495178237 0.154788383509876 NA 0.907079841366549 NA 0.0868224393440563 NA FALSE NA 0.797 1.445 . intron_variant&non_coding_transcript_variant MODIFIER RBPMS HGNC 19097 ENST00000522708 2/4 1 NA ATT T,A 0.0001483 8:30474881 RBPMS HGNC Symbol protein_coding 187782 ENSG00000157110 ENSE00003495146 intron_variant 0.390341 0.30411 0.68779 0.106106 0.700669681465946 0.133474 0.783171944383471 FALSE 0.000239615 ENSE00001093061_000 ENSE00001093061 000 11 74079499 74079668 - 38 84 48 NA NA NA NA NA ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 NA NA NA NA NA NA TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT natural 113 108 0.995180924456375 0.995694569229493 0.995437746842934 8804 7157 0.917397792643151 0.945112323406056 0.931255058024604 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 0 0 0 0 0.995437746842934 0.931255058024604 0 0 0 FALSE FALSE NA NA NA NA NA PGM2L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGM2L1 NA NA NA ENSG00000165434 ENSE00001093061 NA NA NA NA NA NA NA 0.390476072570689 FALSE NA ENSE00001093061_001 ENSE00001093061 001 11 74079499 74079668 - 38 84 48 G A 74079522 2170 147 ACTATAAGATAAGCAAAGGTCAGAAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368476 74368477 74368477 downstr_intron 15 1.40540540540541 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTTCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant NA NA NA NA NA 1239 1220 0.999266969433129 0.999184806829453 0.999225888131291 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 NA NA 0.0818691767899777 0.0540724834233965 0.995437746842934 0.931255058024604 NA 0.0679708301066871 NA FALSE NA 0 0.517 . intron_variant MODIFIER PGM2L1 HGNC 20898 ENST00000298198 5/13 1 NA GGA G 8.236e-06 11:74368477 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 intron_variant 1.724262 0.16971 0.06545 0.088506 0.701192074126464 0.353543 0.390476072570689 FALSE 4.06626e-06 ENSE00001093061_003 ENSE00001093061 003 11 74079499 74079668 - 38 84 48 C T 74079559 2172 110 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGTGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368513 74368514 74368514 exon -23 0.738095238095238 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCACAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant 10 12 1 0.991264890151503 0.995632445075751 165 79 0.987425310805505 0.992430754654498 0.989928032730002 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 0.00481907554362515 -0.00442967907798952 0.0700275181623543 0.0473184312484416 0.995437746842934 0.931255058024604 0.000194698232817814 0.058672974705398 0.0584782764725801 FALSE FALSE 1 1.953 . missense_variant MODERATE PGM2L1 HGNC 20898 ENST00000298198 5/14 1 deleterious(0) possibly_damaging(0.804) NA GCG C 3.295e-05 11:74368514 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 missense_variant 7.143162 0.97826 0.9525 0.732398 0.996956635322916 0 0.390476072570689 FALSE 2.43778e-05 ENSE00001093061_004 ENSE00001093061 004 11 74079499 74079668 - 38 84 48 G A 74079560 2173 109 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCAGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368514 74368515 74368515 exon -24 0.726190476190476 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACTGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant 31 22 1 1 1 111 675 1 1 1 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 0.00481907554362515 0.00430543077050749 0.0826022073568492 0.0548876765939436 0.995437746842934 0.931255058024604 0.00456225315706632 0.0687449419753964 0.0641826888183301 FALSE FALSE 1 4.871 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:74368515 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 missense_variant 7.378725 0.97693 0.97361 0.732398 0.99897344407475 0 0.390476072570689 FALSE 1.6251e-05 ENSE00001093061_005 ENSE00001093061 005 11 74079499 74079668 - 38 84 48 G C 74079560 2174 109 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCCGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368514 74368515 74368515 exon -24 0.726190476190476 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACGGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant NA NA NA NA NA 100 637 0.98430938382648 0.99975164278621 0.992030513306345 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 NA NA 0.0669115911833295 0.0546393193801538 0.995437746842934 0.931255058024604 NA 0.0607754552817416 NA FALSE NA 1 4.871 NA NA NA PGM2L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGM2L1 NA NA NA ENSG00000165434 ENSE00001093061 missense_variant 5.123481 0.97793 0.97687 0.732398 0.996367740845642 0 0.390476072570689 FALSE 4.06276e-06 ENSE00001093061_006 ENSE00001093061 006 11 74079499 74079668 - 38 84 48 A G 74079580 2175 89 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCGTCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368534 74368535 74368535 exon 41 0.488095238095238 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGACGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant 25 22 0.989115976568347 1 0.994557988284174 NA NA NA NA NA 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 -0.00606494788802736 0.00430543077050749 NA NA 0.995437746842934 0.931255058024604 -0.000879758558759935 NA NA NA FALSE 1 7.792 . missense_variant MODERATE PGM2L1 HGNC 20898 ENST00000298198 5/14 1 deleterious(0) probably_damaging(0.997) NA CAT A 8.237e-06 11:74368535 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 missense_variant 5.564561 0.98417 0.99221 0.732398 0.993377862489092 0 0.390476072570689 FALSE 8.12526e-06 ENSE00001093061_007 ENSE00001093061 007 11 74079499 74079668 - 38 84 48 C G 74079582 2176 87 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATGACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368536 74368537 74368537 exon 39 0.464285714285714 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTCATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant NA NA NA NA NA 94 2310 1 0.999305042700642 0.999652521350321 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 NA NA 0.0826022073568492 0.0541927192945852 0.995437746842934 0.931255058024604 NA 0.0683974633257172 NA FALSE NA 0.817 -0.793 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:74368537 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 synonymous_variant 1.090759 0.9621 0.35217 0.732398 0.745413820411706 0 0.390476072570689 FALSE 4.0627e-06 ENSE00001093061_008 ENSE00001093061 008 11 74079499 74079668 - 38 84 48 C T 74079582 2177 87 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATTACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368536 74368537 74368537 exon 39 0.464285714285714 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTAATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant NA NA NA NA NA 2200 138 0.997721915209661 0.999723749012054 0.998722832110857 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 NA NA 0.08032412256651 0.0546114256059974 0.995437746842934 0.931255058024604 NA 0.0674677740862537 NA FALSE NA 0.817 -0.793 NA NA NA PGM2L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGM2L1 NA NA NA ENSG00000165434 ENSE00001093061 synonymous_variant 1.500045 0.96215 0.39358 0.732398 0.743180361683333 0 0.390476072570689 FALSE 4.0627e-06 ENSE00001093061_010 ENSE00001093061 010 11 74079499 74079668 - 38 84 48 A G 74079617 2179 52 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATGTGGCTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368571 74368572 74368572 exon 4 0.0476190476190476 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCACATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant NA NA NA NA NA 1385 195 0.984153039710018 0.998024173909039 0.991088606809528 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 NA NA 0.0667552470668669 0.0529118505029823 0.995437746842934 0.931255058024604 NA 0.0598335487849246 NA FALSE NA 1 7.604 . missense_variant MODERATE PGM2L1 HGNC 20898 ENST00000298198 5/14 rs371767362 1 deleterious(0) probably_damaging(0.987) NA G:0 G:0.0001 TAT A 8.237e-06 11:74368572 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 missense_variant 5.920853 0.98784 0.99339 0.732398 0.998543826462128 0 0.390476072570689 FALSE 4.06504e-06 ENSE00001093061_011 ENSE00001093061 011 11 74079499 74079668 - 38 84 48 C T 74079621 2180 48 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGTTGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368575 74368576 74368576 upstr_intron -1 0 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAACCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant NA NA NA NA NA 122 114 0.00808571827547379 0.00894370623847564 0.00851471225697471 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 NA NA -0.909312074367677 -0.936168617167581 0.995437746842934 0.931255058024604 NA -0.922740345767629 NA TRUE NA 1 6.378 rs145210414 splice_acceptor_variant HIGH PGM2L1 HGNC 20898 ENST00000298198 4/13 rs145210414 1 NA T:0.0002 T:0 HC GCT C 8.237e-06 11:74368576 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 splice_acceptor_variant 5.640817 0.98923 0.99076 0.099367 0.995451320431542 0.986571 0.390476072570689 FALSE 8.13359e-06 ENSE00001093061_012 ENSE00001093061 012 11 74079499 74079668 - 38 84 48 A T 74079625 2181 44 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGATAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368579 74368580 74368580 upstr_intron -5 -0.0833333333333333 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTATCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant 30 21 0 0 0 1098 1942 0.0127367156418291 0.00227536682532702 0.00750604123357805 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 -0.995180924456375 -0.995694569229493 -0.904661077001322 -0.942836956580729 0.995437746842934 0.931255058024604 -0.995437746842934 -0.923749016791026 0.071688730051908 TRUE TRUE 1 5.439 . splice_region_variant&intron_variant LOW PGM2L1 HGNC 20898 ENST00000298198 4/13 1 NA AAA A 8.237e-06 11:74368580 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 splice_region_variant 1.47386 0.97445 0.97653 0.088506 0.880306260566411 0.859194 0.390476072570689 FALSE 4.06706e-06 ENSE00001093061_013 ENSE00001093061 013 11 74079499 74079668 - 38 84 48 A G 74079632 2182 37 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAGTAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368586 74368587 74368587 upstr_intron -12 -0.229166666666667 TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTACTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant 14 22 1 0.995902149317289 0.997951074658644 292 493 1 0.994403045069947 0.997201522534974 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 0.00481907554362515 0.000207580087796089 0.0826022073568492 0.0492907216638905 0.995437746842934 0.931255058024604 0.00251332781571062 0.0659464645103698 0.0634331366946592 FALSE FALSE 0.002 1.625 . intron_variant MODIFIER PGM2L1 HGNC 20898 ENST00000298198 4/13 1 NA AAT A 1.648e-05 11:74368587 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 intron_variant 0.011184 0.18777 0.02864 0.088506 0.521572761231379 0.189126 0.390476072570689 FALSE 8.13868e-06 ENSE00001093061_014 ENSE00001093061 014 11 74079499 74079668 - 38 84 48 C T 74079638 2183 31 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACATCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368592 74368593 74368593 upstr_intron -18 -0.354166666666667 TAAATAGCTAGGAAGCAAAATGGAATTATGATGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant 17 38 0.99892700927956 1 0.99946350463978 807 635 0.996947684380561 0.99707037942797 0.997009031904266 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 0.00374608482318561 0.00430543077050749 0.0795498917374106 0.0519580560219141 0.995437746842934 0.931255058024604 0.00402575779684655 0.0657539738796623 0.0617282160828158 FALSE FALSE 0 -1.581 . intron_variant MODIFIER PGM2L1 HGNC 20898 ENST00000298198 4/13 1 NA ACC C 8.238e-06 11:74368593 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 intron_variant -0.444523 0.08673 0.00804 0.088506 0.206501282882936 0.177138 0.390476072570689 FALSE 4.07707e-06 ENSE00001093061_015 ENSE00001093061 015 11 74079499 74079668 - 38 84 48 A G 74079640 2184 29 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCGTAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368594 74368595 74368595 upstr_intron -20 -0.395833333333333 TAAATAGCTAGGAAGCAAAATGGAATTACGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant NA NA NA NA NA 2471 46 0.923172307184702 0.996546211819202 0.959859259501952 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 NA NA 0.0057745145415512 0.0514338884131451 0.995437746842934 0.931255058024604 NA 0.0286042014773482 NA FALSE NA 0 -0.311 . intron_variant MODIFIER PGM2L1 HGNC 20898 ENST00000298198 4/13 1 NA CAT A 8.238e-06 11:74368595 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 intron_variant -0.134695 0.14078 0.04609 0.088506 0.351317368312588 0.0957265 0.390476072570689 FALSE 4.07671e-06 ENSE00001093061_016 ENSE00001093061 016 11 74079499 74079668 - 38 84 48 T C 74079641 2185 28 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCACAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 74368595 74368596 74368596 upstr_intron -21 -0.416666666666667 TAAATAGCTAGGAAGCAAAATGGAATTGTGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant 13 10 1 1 1 876 352 0.991494454666214 1 0.995747227333107 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 0.00481907554362515 0.00430543077050749 0.0740966620230631 0.0548876765939436 0.995437746842934 0.931255058024604 0.00456225315706632 0.0644921693085033 0.059929916151437 FALSE FALSE 0 0.163 . intron_variant MODIFIER PGM2L1 HGNC 20898 ENST00000298198 4/13 1 NA ATA T 8.238e-06 11:74368596 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 intron_variant 0.00754 0.18355 0.01863 0.088506 0.428693502914223 0.0957265 0.390476072570689 FALSE 4.08037e-06 ENSE00001093061_017 ENSE00001093061 017 11 74079499 74079668 - 38 84 48 T C 74079649 2186 20 ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTACCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGCTGAAAAATAAATAACACCATAATTCCACTTTGCTTCCTAGCTATTTA 74368453 74368623 74368603 74368604 74368604 upstr_intron -29 -0.583333333333333 TAAATAGCTAGGAAGCAAAGTGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT mutant 34 25 0.993862804720263 0.998059394800182 0.995961099760223 1667 631 0.998208846988619 0.999939665513462 0.99907425625104 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 -0.00131811973611184 0.00236482557068951 0.0808110543454681 0.0548273421074053 0.995437746842934 0.931255058024604 0.000523352917288833 0.0678191982264367 0.0672958453091478 FALSE FALSE 0.119 0.403 . intron_variant MODIFIER PGM2L1 HGNC 20898 ENST00000298198 4/13 1 NA ATT T 8.238e-06 11:74368604 PGM2L1 HGNC Symbol protein_coding 68155 ENSG00000165434 ENSE00001093061 intron_variant 0.019083 0.15827 0.01836 0.088506 0.666558447457135 0.0957265 0.390476072570689 FALSE 4.09185e-06 ENSE00001093061_BRK ENSE00001093061 BRK 11 74079499 74079668 - 38 84 48 A,G; T,T NA NA NA ACTATAAGATAAGCAAAGGTCAGGAGTCCAAGGTTTGGCTTGTATCCATTGTCTTCCTTGCGGTTGTGAGAGGCAGTAATCATCACACCTGCAACTGCTTTGAGCTTCTGAACTGCATATGGAAGAAAAATAAATAACACCATAATTCCATTTTGCTTCCTAGCTATTTA 74368453 74368623 NA NA NA NA NA NA TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCTTCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGCCAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT TAAATAGCTAGGAAGCAAAATGGAATTATGGTGTTATTTATTTTTCAGCCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAAGACAATGGATACAAGGTAAACCTTGGACTCCTGACCTTTGCTTATCTTATAGT control 160 185 0 0 0 1628 763 0.00862314071063762 0.000839325094627212 0.00473123290263241 0.995180924456375 0.995694569229493 0.917397792643151 0.945112323406056 -0.995180924456375 -0.995694569229493 -0.908774651932513 -0.944272998311429 0.995437746842934 0.931255058024604 -0.995437746842934 -0.926523825121971 0.0689139217209624 TRUE TRUE NA NA NA NA NA PGM2L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGM2L1 NA NA NA ENSG00000165434 ENSE00001093061 NA NA NA NA NA NA NA 0.390476072570689 FALSE NA ENSE00001093402_000 ENSE00001093402 000 11 122827154 122827323 + 50 81 39 NA NA NA NA NA GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 NA NA NA NA NA NA GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC natural 116 171 0.959076449411875 0.969459958081906 0.964268203746891 2772 3654 0.964915913210978 0.991587994725679 0.978251953968328 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 0 0 0 0 0.964268203746891 0.978251953968328 0 0 0 FALSE FALSE NA NA NA NA NA ATP5F1P5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JHY NA NA NA ENSG00000109944 ENSE00001093402 NA NA NA NA NA NA NA NA NA NA ENSE00001093402_001 ENSE00001093402 001 11 122827154 122827323 + 50 81 39 C T 122827169 2920 16 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAAGACTTGTGTGTCCCC 122956445 122956615 122956460 122956461 122956461 upstr_intron -35 -0.68 GGGGACACACAAGTCTTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 12 14 0.987000897473828 0.999612118464542 0.993306507969185 769 853 0.993465733798982 0.997727512359661 0.995596623079321 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 0.0279244480619529 0.0301521603826352 0.0285498205880033 0.00613951763398268 0.964268203746891 0.978251953968328 0.0290383042222941 0.017344669110993 0.0116936351113011 FALSE FALSE 0.005 0.287 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA CCT C,T 8.237e-06 11:122956461 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 intron_variant 0.497473 0.15951 0.01702 0.061011 0.730319287993193 0.0448725 NA NA 1.22936e-05 ENSE00001093402_002 ENSE00001093402 002 11 122827154 122827323 + 50 81 39 A G 122827175 2921 22 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCCTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956466 122956467 122956467 upstr_intron -29 -0.56 GGGGACACACAAGTCCTTAAAGGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 488 273 0.991652025304976 0.990106816680744 0.99087942099286 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0267361120939981 -0.00148117804493475 0.964268203746891 0.978251953968328 NA 0.0126274670245317 NA FALSE NA 0.003 0.064 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs373308360 1 NA G:0 G:0.0001 AAG A,G 3.295e-05 11:122956467 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 intron_variant 0.538871 0.16772 0.02299 0.061011 0.597228990412171 0.399779 NA NA 8.1686e-06 ENSE00001093402_003 ENSE00001093402 003 11 122827154 122827323 + 50 81 39 T G 122827181 2922 28 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACCGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956472 122956473 122956473 upstr_intron -23 -0.44 GGGGACACACAAGTCCTTAAAAGAAACGGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 209 253 0.638247251472339 0.819514552939354 0.728880902205846 978 456 0.946581826980461 0.931786009950809 0.939183918465635 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.320829197939536 -0.149945405142552 -0.018334086230517 -0.0598019847748699 0.964268203746891 0.978251953968328 -0.235387301541044 -0.0390680355026934 0.196319266038351 FALSE FALSE 0.001 0.436 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs377077046 1 NA G:0.0002 G:0 CTG T,G 8.236e-06 11:122956473 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 intron_variant 1.091923 0.23073 0.19795 0.074636 0.731969950712819 0.401755 NA NA 4.0792e-06 ENSE00001093402_004 ENSE00001093402 004 11 122827154 122827323 + 50 81 39 T C 122827183 2923 30 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAGCAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956474 122956475 122956475 upstr_intron -21 -0.4 GGGGACACACAAGTCCTTAAAAGAAACTGCTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 86 34 0.84360002176375 0.85 0.846800010881875 28 1733 0.809222088082234 0.807771643633303 0.808496865857769 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.115476427648125 -0.119459958081906 -0.155693825128744 -0.183816351092375 0.964268203746891 0.978251953968328 -0.117468192865016 -0.16975508811056 0.0522868952455441 FALSE FALSE 0.986 3.117 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs370197433 1 NA C:0 C:0.0006 GTT T,C 0.000453 11:122956475 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 intron_variant 1.933459 0.96038 0.9513 0.074636 0.703765609006906 0.851877 NA NA 0.000476765 ENSE00001093402_005 ENSE00001093402 005 11 122827154 122827323 + 50 81 39 G C 122827194 2924 41 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATAGAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956485 122956486 122956486 upstr_intron -10 -0.18 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTCTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 14 17 0.989919095795508 0.995636905631435 0.992778000713471 NA NA NA NA NA 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 0.030842646383633 0.0261769475495289 NA NA 0.964268203746891 0.978251953968328 0.028509796966581 NA NA NA FALSE 0.053 0.144 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA TGT G,C 8.236e-06 11:122956486 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 intron_variant 1.596536 0.19863 0.08796 0.074636 0.706824085265544 0.443396 NA NA 8.14246e-06 ENSE00001093402_006 ENSE00001093402 006 11 122827154 122827323 + 50 81 39 A T 122827205 2925 52 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGATCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956496 122956497 122956497 exon 2 0.0246913580246914 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGATCACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 23 108 1 0.994155141786608 0.997077570893304 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0350840867890218 0.0025671470609292 0.964268203746891 0.978251953968328 NA 0.0188256169249755 NA FALSE NA 0.071 0.436 rs140506777 upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs140506777 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 AAC A,T 5.765e-05 11:122956497 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 3.118384 0.81069 0.24447 0.638212 0.98060436911607 0 NA NA 5.69699e-05 ENSE00001093402_007 ENSE00001093402 007 11 122827154 122827323 + 50 81 39 T C 122827214 2926 61 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCGGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956505 122956506 122956506 exon 11 0.135802469135802 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCCGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 626 122 0.924044893237317 0.922046486466355 0.923045689851836 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA -0.040871019973661 -0.069541508259324 0.964268203746891 0.978251953968328 NA -0.0552062641164925 NA FALSE NA 1 1.984 rs145643640 upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs145643640 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTG T,C 8.236e-06 11:122956506 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 2.749663 0.96794 0.69867 0.638212 0.989708583663014 0 NA NA 8.13531e-06 ENSE00001093402_008 ENSE00001093402 008 11 122827154 122827323 + 50 81 39 G T 122827215 2927 62 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTAAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956506 122956507 122956507 exon 12 0.148148148148148 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTTAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 262 406 0.843698130320135 0.85 0.846849065160067 151 301 0.95 0.924522766029808 0.937261383014904 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.11537831909174 -0.119459958081907 -0.0149159132109783 -0.0670652286958707 0.964268203746891 0.978251953968328 -0.117419138586823 -0.0409905709534245 0.0764285676333988 FALSE FALSE 1 2.677 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs374875675 1 NA T:0.0002 T:0 TGA G,T 8.236e-06 11:122956507 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 synonymous_variant 0.567441 0.97068 0.9149 0.638212 0.734800434233235 0 NA NA 4.06822e-06 ENSE00001093402_009 ENSE00001093402 009 11 122827154 122827323 + 50 81 39 G A 122827219 2928 66 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACTTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956510 122956511 122956511 exon 16 0.197530864197531 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAAGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 572 1066 0.999495283454522 0.942285877541261 0.970890580497892 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.034579370243544 -0.0493021171844176 0.964268203746891 0.978251953968328 NA -0.00736137347043681 NA FALSE NA 0.998 0.637 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA AGG G,A 8.236e-06 11:122956511 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 3.183173 0.97003 0.81806 0.638212 0.997546839154462 0 NA NA 4.06775e-06 ENSE00001093402_010 ENSE00001093402 010 11 122827154 122827323 + 50 81 39 T G 122827221 2929 68 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATACCCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956512 122956513 122956513 exon 18 0.222222222222222 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGGTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 205 129 1 0.99607023707036 0.99803511853518 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0350840867890218 0.0044822423446812 0.964268203746891 0.978251953968328 NA 0.0197831645668515 NA FALSE NA 0.995 0.337 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA GTT T,G 8.236e-06 11:122956513 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 synonymous_variant 0.491283 0.96854 0.85646 0.638212 0.727974651177858 0 NA NA 4.06739e-06 ENSE00001093402_011 ENSE00001093402 011 11 122827154 122827323 + 50 81 39 C G 122827225 2930 72 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTCATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956516 122956517 122956517 exon 22 0.271604938271605 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATGAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 247 112 0.990560039660787 1 0.995280019830393 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0256441264498085 0.0084120052743214 0.964268203746891 0.978251953968328 NA 0.017028065862065 NA FALSE NA 0.99 1.067 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA TCA C,G 8.236e-06 11:122956517 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 1.116487 0.94958 0.76999 0.638212 0.954044768911898 0 NA NA 4.06858e-06 ENSE00001093402_012 ENSE00001093402 012 11 122827154 122827323 + 50 81 39 C T 122827236 2931 83 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACATCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956527 122956528 122956528 exon 33 0.407407407407407 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGATGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 519 154 0.998000625758092 1 0.999000312879046 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0330847125471135 0.0084120052743214 0.964268203746891 0.978251953968328 NA 0.0207483589107175 NA FALSE NA 0.011 -1.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:122956528 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 synonymous_variant 1.359438 0.91652 0.03472 0.638212 0.748604653461531 0 NA NA 0.000406779 ENSE00001093402_013 ENSE00001093402 013 11 122827154 122827323 + 50 81 39 C A 122827236 2932 83 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACTTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956527 122956528 122956528 exon 33 0.407407407407407 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGAAGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 44 137 0.85 0.876863988247417 0.863431994123709 1170 123 0.918394155172421 0.975984164087863 0.947189159630142 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.109076449411875 -0.0925959698344893 -0.0465217580385573 -0.0156038306378151 0.964268203746891 0.978251953968328 -0.100836209623182 -0.0310627943381862 0.0697734152849958 FALSE FALSE 0.011 -1.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JHY NA NA NA ENSG00000109944 ENSE00001093402 missense_variant 2.083443 0.92598 0.10378 0.638212 0.949859602045562 0 NA NA 0.000268474 ENSE00001093402_014 ENSE00001093402 014 11 122827154 122827323 + 50 81 39 G T 122827237 2933 84 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCAAGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956528 122956529 122956529 exon 34 0.419753086419753 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACTTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 62 28 0 0 0 2679 262 0.800781636001384 0.800964376836734 0.800873006419059 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.959076449411875 -0.969459958081906 -0.164134277209594 -0.190623617888945 0.964268203746891 0.978251953968328 -0.964268203746891 -0.177378947549269 0.786889256197621 FALSE TRUE 0.781 0.709 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:122956529 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 2.238873 0.94768 0.74851 0.638212 0.972097889700438 0 NA NA 4.06815e-06 ENSE00001093402_015 ENSE00001093402 015 11 122827154 122827323 + 50 81 39 G A 122827237 2934 84 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCATGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956528 122956529 122956529 exon 34 0.419753086419753 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACATGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 103 386 0.844659983628898 0.847123535731498 0.845891759680198 371 1376 0.949198847641558 0.78356707684624 0.866382962243899 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.114416465782976 -0.122336422350409 -0.0157170655694203 -0.208020917879439 0.964268203746891 0.978251953968328 -0.118376444066692 -0.11186899172443 0.0065074523422628 FALSE FALSE 0.781 0.709 NA NA NA ATP5F1P5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JHY NA NA NA ENSG00000109944 ENSE00001093402 missense_variant 3.618188 0.94385 0.63466 0.638212 0.983056090056806 0 NA NA 8.1363e-06 ENSE00001093402_017 ENSE00001093402 017 11 122827154 122827323 + 50 81 39 G A 122827255 2936 102 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCTGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956546 122956547 122956547 exon -30 0.641975308641975 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCAGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 121 148 0.85 0.85 0.85 265 349 0.926959795830635 0.92732923954408 0.927144517687358 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.109076449411875 -0.119459958081906 -0.037956117380343 -0.0642587551815987 0.964268203746891 0.978251953968328 -0.114268203746891 -0.0511074362809709 0.0631607674659197 FALSE FALSE 1 4.98 rs61748621 upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs61748621 1 NA A:0.0002 A:0.0005 CGG G,A 0.0001565 11:122956547 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 6.210065 0.97535 0.94476 0.638212 0.99798635699421 0 NA NA 0.000170836 ENSE00001093402_018 ENSE00001093402 018 11 122827154 122827323 + 50 81 39 G A 122827267 2937 114 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTTAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956558 122956559 122956559 exon -18 0.790123456790123 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTAAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 106 210 0.85 0.868647340394622 0.859323670197311 NA NA NA NA NA 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.109076449411875 -0.100812617687284 NA NA 0.964268203746891 0.978251953968328 -0.104944533549579 NA NA NA FALSE 1 4.448 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA TGA G,A 1.647e-05 11:122956559 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 7.174727 0.98714 0.97792 0.638212 0.998972516824273 0 NA NA 1.62741e-05 ENSE00001093402_019 ENSE00001093402 019 11 122827154 122827323 + 50 81 39 A T 122827268 2938 115 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACACAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956559 122956560 122956560 exon -17 0.802469135802469 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGTGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 20 44 0.924012475833517 0.85 0.887006237916758 NA NA NA NA NA 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.0350639735783581 -0.119459958081906 NA NA 0.964268203746891 0.978251953968328 -0.0772619658301323 NA NA NA FALSE 0.997 1.358 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA GAG A,T 1.647e-05 11:122956560 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 4.699102 0.97584 0.91585 0.638212 0.98113637123064 0 NA NA 1.62733e-05 ENSE00001093402_021 ENSE00001093402 021 11 122827154 122827323 + 50 81 39 C T 122827272 2940 119 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGATAGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956563 122956564 122956564 exon -13 0.851851851851852 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCTATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 269 241 0.731520634069236 0.85 0.790760317034618 814 47 0.95391448885404 0.946220697239214 0.950067593046627 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.227555815342639 -0.119459958081906 -0.0110014243569381 -0.0453672974864643 0.964268203746891 0.978251953968328 -0.173507886712273 -0.0281843609217012 0.145323525790572 FALSE FALSE 0.017 0.009 rs140051009 upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs140051009 1 NA CCA C,T 1.647e-05 11:122956564 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 synonymous_variant 1.710161 0.96598 0.20369 0.553676 0.815420799674484 0 NA NA 8.14113e-06 ENSE00001093402_022 ENSE00001093402 022 11 122827154 122827323 + 50 81 39 A G 122827273 2941 120 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGACGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956564 122956565 122956565 exon -12 0.864197530864197 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCGTCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 991 1024 0.95432974325002 0.941474018103202 0.947901880676611 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA -0.0105861699609585 -0.050113976622477 0.964268203746891 0.978251953968328 NA -0.0303500732917177 NA FALSE NA 0.006 -0.485 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:122956565 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 1.374048 0.9597 0.11479 0.553676 0.877003562727137 0 NA NA 4.06918e-06 ENSE00001093402_023 ENSE00001093402 023 11 122827154 122827323 + 50 81 39 A C 122827273 2942 120 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGAGGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956564 122956565 122956565 exon -12 0.864197530864197 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCCTCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 1472 278 0.987926465633433 0.982222589602021 0.985074527617727 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0230105524224551 -0.0093654051236578 0.964268203746891 0.978251953968328 NA 0.00682257364939864 NA FALSE NA 0.006 -0.485 NA NA NA ATP5F1P5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JHY NA NA NA ENSG00000109944 ENSE00001093402 missense_variant 2.293385 0.96133 0.29457 0.553676 0.962130213290358 0 NA NA 2.84842e-05 ENSE00001093402_024 ENSE00001093402 024 11 122827154 122827323 + 50 81 39 T C 122827274 2943 121 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCACTTTGTCTCTGGTGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956565 122956566 122956566 exon -11 0.876543209876543 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCACCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 306 603 1 1 1 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0350840867890218 0.0084120052743214 0.964268203746891 0.978251953968328 NA 0.0217480460316716 NA FALSE NA 0.932 1.361 rs184211693 upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs184211693 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 C:0 C:0.0005 ATC T,C 0.0006177 11:122956566 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 missense_variant 5.180163 0.97575 0.86463 0.553676 0.990495148047463 0 NA NA 0.000728406 ENSE00001093402_025 ENSE00001093402 025 11 122827154 122827323 + 50 81 39 G A 122827287 2944 134 GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTTACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956578 122956579 122956579 downstr_intron 3 1.07894736842105 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTAAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 1172 171 0.99676014424819 0.999074003884349 0.99791707406627 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0318442310372122 0.00748600915867015 0.964268203746891 0.978251953968328 NA 0.0196651200979412 NA FALSE NA 1 0.451 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 rs370526837 1 NA A:0 A:0.0001 TGA G,A 8.236e-06 11:122956579 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 splice_region_variant 1.14556 0.95616 0.53991 0.074636 0.644791229236796 0.467242 NA NA 4.07395e-06 ENSE00001093402_028 ENSE00001093402 028 11 122827154 122827323 + 50 81 39 A C 122827304 2947 151 GAGTCAGGTCTGGAAACACGGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956595 122956596 122956596 downstr_intron 20 1.52631578947368 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACCGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant 10 24 0.973340628344062 0.959430016175714 0.966385322259888 364 904 0.999660329536484 0.998597832115389 0.999129080825936 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 0.0142641789321878 -0.0100299419061923 0.0347444163255055 0.00700983738970995 0.964268203746891 0.978251953968328 0.00211711851299773 0.0208771268576077 0.01876000834461 FALSE FALSE 0 -1.352 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA CAG A,C 8.237e-06 11:122956596 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 intron_variant -0.324539 0.18535 0.02989 0.061011 0.474076180892832 0.0455939 NA NA 4.10135e-06 ENSE00001093402_029 ENSE00001093402 029 11 122827154 122827323 + 50 81 39 G A 122827305 2948 152 GAGTCAGGTCTGGAAACATTGTATGTGCATCTCACTCACTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTCTAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 122956596 122956597 122956597 downstr_intron 21 1.55263157894737 GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAATGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC mutant NA NA NA NA NA 81 537 1 0.999929099469488 0.999964549734744 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 NA NA 0.0350840867890218 0.00834110474380911 0.964268203746891 0.978251953968328 NA 0.0217125957664154 NA FALSE NA 0 0.143 . upstream_gene_variant MODIFIER ATP5F1P5 HGNC 39746 ENST00000526403 1 NA AGT G,A 8.237e-06 11:122956597 JHY HGNC Symbol protein_coding 77270 ENSG00000109944 ENSE00001093402 intron_variant -0.062985 0.198 0.04295 0.061011 0.667707406453444 0.0455939 NA NA 2.45916e-05 ENSE00001093402_BRK ENSE00001093402 BRK 11 122827154 122827323 + 50 81 39 A,G; T,T NA NA NA GAGTCAGGTCTGGAAACACTGTATGTGCATCTCACTCGGTTTGTCTCTGATGGACTCAAAGTCAGGTCCGAGGCCTCCAAGCTTCACGTCTCTTTTCTGATAACCTTTCAGCTTGGTGTTAAAAAAATACAACCACAGAAACAGTTTCTTTTAAGGACTTGTGTGTCCCC 122956445 122956615 NA NA NA NA NA NA GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTTTAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAACCGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC GGGGACACACAAGTCCTTAAAAGAAACTGTTTCTGTGGTTGTATTTTTAGAACACCAAGCTGAAAGGTTATCAGAAAAGAGACGTGAAGCTTGGAGGCCTCGGACCTGACTTTGAGTCCATCAGAGACAAAGTGAGTGAGATGCACATACAGTGTTTCCAGACCTGACTC control 146 76 0 0 0 80 497 0 0.0010178488293581 0.000508924414679049 0.959076449411875 0.969459958081906 0.964915913210978 0.991587994725679 -0.959076449411875 -0.969459958081906 -0.964915913210978 -0.990570145896321 0.964268203746891 0.978251953968328 -0.964268203746891 -0.977743029553649 0.0134748258067587 TRUE TRUE NA NA NA NA NA ATP5F1P5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JHY NA NA NA ENSG00000109944 ENSE00001093402 NA NA NA NA NA NA NA NA NA NA ENSE00001093627_000 ENSE00001093627 000 11 125333344 125333513 - 36 87 47 NA NA NA NA NA ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTGATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 NA NA NA NA NA NA TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT natural 48 24 0.999259159217805 0.985525772894995 0.9923924660564 1792 1126 0.999074467094197 0.993271119495423 0.99617279329481 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 0 0 0 0 0.9923924660564 0.99617279329481 0 0 0 FALSE FALSE NA NA NA NA NA FEZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FEZ1 NA NA NA ENSG00000149557 ENSE00003489629 NA NA NA NA NA NA NA 0.540112166448388 FALSE NA ENSE00001093627_001 ENSE00001093627 001 11 125333344 125333513 - 36 87 47 C T 125333355 2972 159 ACAAAAGGTCCTGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTGATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463458 125463459 125463459 downstr_intron 25 1.71428571428571 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCAGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 62 39 1 1 1 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 0.00672888050457687 0.9923924660564 0.99617279329481 NA 0.00382720670518999 NA FALSE NA 0 0.574 . intron_variant&non_coding_transcript_variant MODIFIER FEZ1 HGNC 3659 ENST00000534022 1/1 1 NA CCG C,T 4.118e-05 11:125463459 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 non_coding_transcript_exon_variant 0.15419 0.25035 0.16603 0.162113 0.496509210042217 0.0625712 0.540112166448388 FALSE 4.16261e-05 ENSE00001093627_005 ENSE00001093627 005 11 125333344 125333513 - 36 87 47 T C 125333363 2976 151 ACAAAAGGTCCCGATAACCCGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTGATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463466 125463467 125463467 downstr_intron 17 1.48571428571429 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCGGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 290 457 1 0.990184350289376 0.995092175144688 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 -0.00308676920604745 0.9923924660564 0.99617279329481 NA -0.00108061815012217 NA FALSE NA 0 -1.919 . intron_variant&non_coding_transcript_variant MODIFIER FEZ1 HGNC 3659 ENST00000534022 1/1 1 NA CTG T,C 8.236e-06 11:125463467 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 non_coding_transcript_exon_variant -0.11797 0.1762 0.04782 0.262962 0.571499891792741 0.0625712 0.540112166448388 FALSE 4.10334e-06 ENSE00001093627_007 ENSE00001093627 007 11 125333344 125333513 - 36 87 47 G C 125333365 2978 149 ACAAAAGGTCCCGATAACCTGCAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTGATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463468 125463469 125463469 downstr_intron 15 1.42857142857143 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTGCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 138 142 0.992615688138806 0.998648610866918 0.995632149502862 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA -0.00645877895539093 0.00537749137149512 0.9923924660564 0.99617279329481 NA -0.000540643791947903 NA FALSE NA 0.003 0.336 . intron_variant&non_coding_transcript_variant MODIFIER FEZ1 HGNC 3659 ENST00000534022 1/1 1 NA GGA G,C 8.236e-06 11:125463469 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 non_coding_transcript_exon_variant -0.239863 0.18738 0.12946 0.262962 0.435868506888364 0.0476879 0.540112166448388 FALSE 4.09665e-06 ENSE00001093627_011 ENSE00001093627 011 11 125333344 125333513 - 36 87 47 T G 125333386 2982 128 ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCGGCTGTGAGCAGAGGCTCCTCGTTGATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463489 125463490 125463490 exon -7 0.931034482758621 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCCGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 247 270 0.997983316344791 1 0.998991658172395 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA -0.00109115074940636 0.00672888050457687 0.9923924660564 0.99617279329481 NA 0.00281886487758526 NA FALSE NA 0.341 -0.382 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:125463490 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 synonymous_variant 0.885575 0.89016 0.38895 0.706298 0.633856805202338 0 0.540112166448388 FALSE 8.13405e-06 ENSE00001093627_013 ENSE00001093627 013 11 125333344 125333513 - 36 87 47 G A 125333407 2984 107 ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCATTGATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463510 125463511 125463511 exon -28 0.689655172413793 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAATGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 254 101 1 0.99373412104399 0.996867060521995 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 0.000463001548566822 0.9923924660564 0.99617279329481 NA 0.000694267227184964 NA FALSE NA 0.083 -0.229 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:125463511 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 synonymous_variant 1.497775 0.93946 0.06334 0.706298 0.702948722311294 0 0.540112166448388 FALSE 2.84474e-05 ENSE00001093627_014 ENSE00001093627 014 11 125333344 125333513 - 36 87 47 G T 125333407 2985 107 ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCTTTGATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463510 125463511 125463511 exon -28 0.689655172413793 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAAAGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 849 107 1 1 1 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 0.00672888050457687 0.9923924660564 0.99617279329481 NA 0.00382720670518999 NA FALSE NA 0.083 -0.229 NA NA NA FEZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FEZ1 NA NA NA ENSG00000149557 ENSE00003489629 missense_variant 2.172151 0.94964 0.24735 0.706298 0.972963057026492 0 0.540112166448388 FALSE 8.12783e-06 ENSE00001093627_015 ENSE00001093627 015 11 125333344 125333513 - 36 87 47 G C 125333410 2986 104 ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTCATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463513 125463514 125463514 exon -31 0.655172413793103 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATGAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 52 128 1 0.978714888713496 0.989357444356748 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 -0.0145562307819274 0.9923924660564 0.99617279329481 NA -0.00681534893806213 NA FALSE NA 1 1.869 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FEZ1 HGNC 3659 ENST00000534022 1/2 1 NA TGA G,C 8.236e-06 11:125463514 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 missense_variant 5.241627 0.96746 0.79658 0.706298 0.996649245334142 0 0.540112166448388 FALSE 4.06342e-06 ENSE00001093627_016 ENSE00001093627 016 11 125333344 125333513 - 36 87 47 G A 125333416 2987 98 ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTGATACCAGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463519 125463520 125463520 exon -37 0.586206896551724 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCTGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 166 199 1 1 1 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 0.00672888050457687 0.9923924660564 0.99617279329481 NA 0.00382720670518999 NA FALSE NA 0.943 0.286 NA NA NA FEZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:125463520 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 synonymous_variant 1.85166 0.954 0.36379 0.706298 0.691501642636615 0 0.540112166448388 FALSE 3.25087e-05 ENSE00001093627_020 ENSE00001093627 020 11 125333344 125333513 - 36 87 47 C T 125333431 2991 83 ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTGATACCGGAATCATTTTCACTTTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463534 125463535 125463535 exon 36 0.413793103448276 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAAAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 142 100 1 1 1 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 0.00672888050457687 0.9923924660564 0.99617279329481 NA 0.00382720670518999 NA FALSE NA 1 1.372 rs150934370 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FEZ1 HGNC 3659 ENST00000534022 1/2 rs150934370&COSM3808709 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0001 TCT C,T 0.0001565 11:125463535 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 synonymous_variant 2.20282 0.98406 0.86674 0.706298 0.670180871582434 0 0.540112166448388 FALSE 0.000158476 ENSE00001093627_021 ENSE00001093627 021 11 125333344 125333513 - 36 87 47 C T 125333436 2992 78 ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTGATACCGGAATCATTTTCACTCTTCTTATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGGGTGACCATCAGCAGAA 125463447 125463617 125463539 125463540 125463540 exon 31 0.35632183908046 TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATAAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 12 1044 1 0.999848483446322 0.999924241723161 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 0.00657736395089858 0.9923924660564 0.99617279329481 NA 0.00375144842835085 NA FALSE NA 1 4.421 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FEZ1 HGNC 3659 ENST00000534022 1/2 1 NA TCA C,T 8.236e-06 11:125463540 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 missense_variant 6.222322 0.99081 0.92566 0.706298 0.999377012801502 0 0.540112166448388 FALSE 4.06319e-06 ENSE00001093627_027 ENSE00001093627 027 11 125333344 125333513 - 36 87 47 G T 125333497 2998 17 ACAAAAGGTCCCGATAACCTGGAGAGATACTTATACCTGATCTGCTGTGAGCAGAGGCTCCTCGTTGATACCGGAATCATTTTCACTCTTCTCATTGAACTCTTCCTCTTCTTTCTCATGGATCTGGAGAGGAGGTGGGGAGATGGAATTCTGTGTGACCATCAGCAGAA 125463447 125463617 125463600 125463601 125463601 upstr_intron -31 -0.638297872340426 TTCTGCTGATGGTCACACAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT TTCTGCTGATGGTCACCCAGAATTCCATCTCCCCACCTCCTCTCCAGATCCATGAGAAAGAAGAGGAAGAGTTCAATGAGAAGAGTGAAAATGATTCCGGTATCAACGAGGAGCCTCTGCTCACAGCAGATCAGGTATAAGTATCTCTCCAGGTTATCGGGACCTTTTGT mutant NA NA NA NA NA 75 33 1 1 1 0.999259159217805 0.985525772894995 0.999074467094197 0.993271119495423 NA NA 0.000925532905803106 0.00672888050457687 0.9923924660564 0.99617279329481 NA 0.00382720670518999 NA FALSE NA 0.92 2.736 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000534022 1 NA GGG G,T 8.236e-06 11:125463601 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003489629 intron_variant -0.21804 0.21269 0.41573 0.053691 0.665983657705253 0.0484394 0.540112166448388 FALSE 4.08764e-06 ENSE00001093636_000 ENSE00001093636 000 11 125323987 125324156 - 39 81 50 NA NA NA NA NA GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 NA NA NA NA NA NA GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC natural 84 49 0.96154534317311 0.976287299733206 0.968916321453158 1376 2564 0.99585892058631 0.846926332577889 0.921392626582099 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 0 0 0 0 0.968916321453158 0.921392626582099 0 0 0 FALSE FALSE NA NA NA NA NA FEZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FEZ1 NA NA NA ENSG00000149557 ENSE00003613253 NA NA NA NA NA NA NA 0.540112166448388 FALSE NA ENSE00001093636_003 ENSE00001093636 003 11 125323987 125324156 - 39 81 50 A C 125324015 2952 142 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGGCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454118 125454119 125454119 downstr_intron 11 1.28947368421053 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGGCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 366 797 0.992932716708026 0.970122932729381 0.981527824718704 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA -0.0029262038782838 0.123196600151492 0.968916321453158 0.921392626582099 NA 0.0601351981366043 NA FALSE NA 0.001 0.206 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 1 NA GAC A,C 6.589e-05 11:125454119 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 intron_variant 0.304404 0.21457 0.14103 0.262962 0.705322177570084 0.0491755 0.540112166448388 FALSE NA ENSE00001093636_004 ENSE00001093636 004 11 125323987 125324156 - 39 81 50 C T 125324019 2953 138 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCATAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454122 125454123 125454123 downstr_intron 7 1.18421052631579 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCATAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 205 670 1 0.995891528572538 0.997945764286269 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00414107941369002 0.14896519599465 0.968916321453158 0.921392626582099 NA 0.0765531377041698 NA FALSE NA 0 -0.928 rs148013154 upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 rs148013154 1 T:0.0080 T:0.0295 T:0.0014 NA T:0 T:0 T:0 T:0.0207 T:0 ACG C,T 0.00196 11:125454123 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 splice_region_variant 0.913032 0.25141 0.11004 0.262962 0.717476583428554 0.0548632 0.540112166448388 FALSE 0.00150512 ENSE00001093636_006 ENSE00001093636 006 11 125323987 125324156 - 39 81 50 G C 125324020 2955 137 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGGGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454123 125454124 125454124 downstr_intron 6 1.15789473684211 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGGGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 233 1384 0.998399450692927 0.989681595891737 0.994040523292332 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00254053010661692 0.142755263313849 0.968916321453158 0.921392626582099 NA 0.0726478967102328 NA FALSE NA 0 -1.792 NA NA NA FEZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:125454124 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 splice_region_variant 0.094024 0.20023 0.03113 0.262962 0.651832936987025 0.0988043 0.540112166448388 FALSE 8.1884e-06 ENSE00001093636_008 ENSE00001093636 008 11 125323987 125324156 - 39 81 50 G A 125324022 2957 135 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTATGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454125 125454126 125454126 downstr_intron 4 1.10526315789474 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTATGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 22 1063 1 0.999255374480665 0.999627687240333 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00414107941369002 0.152329041902777 0.968916321453158 0.921392626582099 NA 0.0782350606582334 NA FALSE NA 0 -0.876 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 1 NA CGT G,A 8.237e-05 11:125454126 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 splice_region_variant 0.305438 0.17395 0.05476 0.262962 0.771265012239852 0.100904 0.540112166448388 FALSE 4.50174e-05 ENSE00001093636_009 ENSE00001093636 009 11 125323987 125324156 - 39 81 50 C T 125324026 2958 131 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAAGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454129 125454130 125454130 exon -1 1 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAAGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant 80 74 0 0 0 925 898 0.00052904658880166 0 0.00026452329440083 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 -0.96154534317311 -0.976287299733206 -0.995329873997508 -0.846926332577889 0.968916321453158 0.921392626582099 -0.968916321453158 -0.921128103287698 0.0477882181654599 TRUE TRUE 1 7.462 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 1 NA CCT C,T 8.237e-06 11:125454130 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 splice_region_variant 1.079333 0.97919 0.98737 0.706298 0.944417542904335 0 0.540112166448388 FALSE 8.17087e-06 ENSE00001093636_010 ENSE00001093636 010 11 125323987 125324156 - 39 81 50 C T 125324034 2959 123 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTAACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454137 125454138 125454138 exon -9 0.901234567901235 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTAACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 471 191 1 0.995912779984838 0.997956389992419 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00414107941369002 0.148986447406949 0.968916321453158 0.921392626582099 NA 0.0765637634103196 NA FALSE NA 1 7.462 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 rs202007923 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCA C,T 1.647e-05 11:125454138 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 missense_variant 4.944598 0.97919 0.98737 0.706298 0.998384407797804 0 0.540112166448388 FALSE 2.85836e-05 ENSE00001093636_011 ENSE00001093636 011 11 125323987 125324156 - 39 81 50 C T 125324049 2960 108 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTAGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454152 125454153 125454153 exon -24 0.716049382716049 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTAGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 224 112 0.894712577196779 0.898542100801254 0.896627338999016 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA -0.101146343389531 0.0516157682233652 0.968916321453158 0.921392626582099 NA -0.0247652875830828 NA FALSE NA 1 5.756 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 rs372861605 1 NA T:0.0002 T:0 CCA C,T 8.236e-06 11:125454153 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 missense_variant 6.827855 0.96324 0.96649 0.706298 0.998464599548726 0 0.540112166448388 FALSE 4.0786e-06 ENSE00001093636_012 ENSE00001093636 012 11 125323987 125324156 - 39 81 50 A C 125324051 2961 106 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTGTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454154 125454155 125454155 exon -26 0.691358024691358 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTGTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 497 1070 1 0.998004323112856 0.999002161556428 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00414107941369002 0.151077990534967 0.968916321453158 0.921392626582099 NA 0.0776095349743286 NA FALSE NA 1 8.929 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 rs200973012 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 AAA A,C 8.236e-06 11:125454155 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 missense_variant 6.403533 0.97584 0.99017 0.706298 0.993961716001326 0 0.540112166448388 FALSE 8.15694e-06 ENSE00001093636_013 ENSE00001093636 013 11 125323987 125324156 - 39 81 50 G A 125324059 2962 98 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGTCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454162 125454163 125454163 exon -34 0.592592592592593 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGTCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 472 185 1 1 1 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00414107941369002 0.153073667422111 0.968916321453158 0.921392626582099 NA 0.0786073734179007 NA FALSE NA 1 0.754 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 1 NA GGC G,A 8.236e-06 11:125454163 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 synonymous_variant 1.695093 0.92858 0.85932 0.706298 0.811254346983166 0 0.540112166448388 FALSE 1.22297e-05 ENSE00001093636_014 ENSE00001093636 014 11 125323987 125324156 - 39 81 50 G A 125324061 2963 96 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCTGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454164 125454165 125454165 exon -36 0.567901234567901 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCTGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 567 552 0.877058361865088 0.970159000281466 0.923608681073277 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA -0.118800558721222 0.123232667703577 0.968916321453158 0.921392626582099 NA 0.0022160544911774 NA FALSE NA 1 3.782 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 1 NA CGG G,A 4.942e-05 11:125454165 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 missense_variant 7.725426 0.94926 0.95653 0.706298 0.999161597091217 0 0.540112166448388 FALSE 3.26097e-05 ENSE00001093636_015 ENSE00001093636 015 11 125323987 125324156 - 39 81 50 C T 125324067 2964 90 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTAGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454170 125454171 125454171 exon 40 0.493827160493827 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTAGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 507 196 0.972443393030805 1 0.986221696515402 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA -0.0234155275555054 0.153073667422111 0.968916321453158 0.921392626582099 NA 0.064829069933303 NA FALSE NA 0.056 0.484 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 1 NA CCA C,T 8.236e-06 11:125454171 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 missense_variant 2.913287 0.81904 0.4097 0.706298 0.985209223619143 0 0.540112166448388 FALSE NA ENSE00001093636_017 ENSE00001093636 017 11 125323987 125324156 - 39 81 50 G C 125324086 2966 71 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATGTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454189 125454190 125454190 exon 21 0.259259259259259 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATGTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 593 62 0.99056910328583 1 0.995284551642915 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA -0.00528981730047962 0.153073667422111 0.968916321453158 0.921392626582099 NA 0.0738919250608159 NA FALSE NA 1 2.172 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:125454190 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 missense_variant 4.427211 0.95593 0.92584 0.706298 0.992583569312469 0 0.540112166448388 FALSE 8.56102e-05 ENSE00001093636_018 ENSE00001093636 018 11 125323987 125324156 - 39 81 50 G A 125324086 2967 71 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATTTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454189 125454190 125454190 exon 21 0.259259259259259 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATTTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant 15 23 0.85 0.85 0.85 719 460 0.939600526573466 0.954559899868066 0.947080213220766 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 -0.11154534317311 -0.126287299733206 -0.0562583940128435 0.107633567290178 0.968916321453158 0.921392626582099 -0.118916321453158 0.0256875866386671 0.144603908091825 FALSE FALSE 1 2.172 NA NA NA FEZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FEZ1 NA NA NA ENSG00000149557 ENSE00003613253 synonymous_variant 2.099773 0.96044 0.91412 0.706298 0.90911717006563 0 0.540112166448388 FALSE 1.63067e-05 ENSE00001093636_019 ENSE00001093636 019 11 125323987 125324156 - 39 81 50 C T 125324105 2968 52 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCACTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454208 125454209 125454209 exon 2 0.0246913580246914 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCACTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 15 563 1 0.996353384277827 0.998176692138913 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00414107941369002 0.149427051699938 0.968916321453158 0.921392626582099 NA 0.0767840655568142 NA FALSE NA 1 4.325 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 1 NA GCG C,T 8.237e-06 11:125454209 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 missense_variant 5.873126 0.963 0.96505 0.706298 0.99929751463614 0 0.540112166448388 FALSE 1.22603e-05 ENSE00001093636_020 ENSE00001093636 020 11 125323987 125324156 - 39 81 50 G A 125324106 2969 51 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGTGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454209 125454210 125454210 exon 1 0.0123456790123457 GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGTGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 429 840 0.997490045436321 0.999577812700925 0.998533929068623 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00163112485001138 0.152651480123036 0.968916321453158 0.921392626582099 NA 0.0771413024865237 NA FALSE NA 1 9.229 . upstream_gene_variant MODIFIER FEZ1 HGNC 3659 ENST00000526507 1 NA CGC G,A 8.237e-06 11:125454210 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 missense_variant 7.888466 0.97737 0.98925 0.706298 0.999276767338787 0 0.540112166448388 FALSE 4.08985e-06 ENSE00001093636_021 ENSE00001093636 021 11 125323987 125324156 - 39 81 50 G C 125324133 2970 24 GACAGTGTAGCAAGAAGCATTTGGCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454236 125454237 125454237 upstr_intron -27 -0.52 GACAGTGTAGCAAGAAGCATTTGGCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 67 267 1 0.97903190822379 0.989515954111895 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA 0.00414107941369002 0.132105575645902 0.968916321453158 0.921392626582099 NA 0.0681233275297959 NA FALSE NA 0 0.139 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:125454237 FEZ1 HGNC Symbol protein_coding 50572 ENSG00000149557 ENSE00003613253 non_coding_transcript_exon_variant -0.096672 0.2912 0.07218 0.099367 0.6542321164186 0.0904498 0.540112166448388 FALSE 1.26417e-05 ENSE00001093636_022 ENSE00001093636 022 11 125323987 125324156 - 39 81 50 G A 125324133 2971 24 GACAGTGTAGCAAGAAGCATTTGTCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 125454236 125454237 125454237 upstr_intron -27 -0.52 GACAGTGTAGCAAGAAGCATTTGTCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC mutant NA NA NA NA NA 161 575 0.975261473002799 0.983814105287239 0.979537789145019 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA -0.0205974475835115 0.136887772709351 0.968916321453158 0.921392626582099 NA 0.0581451625629197 NA FALSE NA 0 0.139 NA NA NA FEZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FEZ1 NA NA NA ENSG00000149557 ENSE00003613253 non_coding_transcript_exon_variant 0.219803 0.24691 0.0519 0.099367 0.693086296719781 0.0904498 0.540112166448388 FALSE 1.68556e-05 ENSE00001093636_BRK ENSE00001093636 BRK 11 125323987 125324156 - 39 81 50 A,G; T,T NA NA NA GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACTTCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGCCACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC 125454090 125454260 NA NA NA NA NA NA GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACTTCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGCCACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC GACAGTGTAGCAAGAAGCATTTGCCCTTCTTGAGTCTCTCTCCCCCACAGCGCTTCAGCATGGAAGGCATCTCCAACATTCTGCAGAGTGGCATCCGCCAGACCTTTGGCTCCTCAGGAACTGACAAACAGGTACGCGTAGTCTCCCTGCTCCAAGCTCTCTTCCTAGAC control NA NA NA NA NA 53 235 0 0 0 0.96154534317311 0.976287299733206 0.99585892058631 0.846926332577889 NA NA -0.99585892058631 -0.846926332577889 0.968916321453158 0.921392626582099 NA -0.921392626582099 NA TRUE NA NA NA NA NA NA FEZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FEZ1 NA NA NA ENSG00000149557 ENSE00003613253 NA NA NA NA NA NA NA 0.540112166448388 FALSE NA ENSE00001094099_000 ENSE00001094099 000 14 51491951 51492120 - 32 96 42 NA NA NA NA NA GGGTTTCCTTGCGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 NA NA NA NA NA NA CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC natural 15 31 0.996053910288464 0.999831671344231 0.997942790816347 551 2935 0.970004611927881 0.99729638162433 0.983650496776106 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 0 0 0 0 0.997942790816347 0.983650496776106 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM9 NA NA NA ENSG00000100505 ENSE00001094099 NA NA NA NA NA NA NA 0.987914427877689 TRUE NA ENSE00001094099_002 ENSE00001094099 002 14 51491951 51492120 - 32 96 42 C A 51491962 398 159 GGGTTTCCTTGAGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025243 51025244 51025244 downstr_intron 21 1.67741935483871 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACTCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 218 58 1 1 1 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0299953880721192 0.00270361837566957 0.997942790816347 0.983650496776106 NA 0.0163495032238944 NA FALSE NA 0 -0.398 NA NA NA TRIM9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:51025244 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 intron_variant 0.173948 0.17526 0.04279 0.06567 0.78718692755421 0.0463572 0.987914427877689 TRUE 2.04461e-05 ENSE00001094099_003 ENSE00001094099 003 14 51491951 51492120 - 32 96 42 G A 51491963 399 158 GGGTTTCCTTGCATCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025244 51025245 51025245 downstr_intron 20 1.64516129032258 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGATGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 136 597 1 1 1 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0299953880721192 0.00270361837566957 0.997942790816347 0.983650496776106 NA 0.0163495032238944 NA FALSE NA 0 0.839 . intron_variant MODIFIER TRIM9 HGNC 16288 ENST00000298355 2/9 1 NA CGT G,A 1.647e-05 14:51025245 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 intron_variant 0.105867 0.19927 0.03228 0.06567 0.606540758025506 0.0463572 0.987914427877689 TRUE 1.2244e-05 ENSE00001094099_004 ENSE00001094099 004 14 51491951 51492120 - 32 96 42 G A 51491970 400 151 GGGTTTCCTTGCGTCCCAGATAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025251 51025252 51025252 downstr_intron 13 1.41935483870968 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTATCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 141 422 1 1 1 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0299953880721192 0.00270361837566957 0.997942790816347 0.983650496776106 NA 0.0163495032238944 NA FALSE NA 0 -0.005 . intron_variant MODIFIER TRIM9 HGNC 16288 ENST00000298355 2/9 1 NA GGT G,A 4.942e-05 14:51025252 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 intron_variant 0.05956 0.20141 0.07275 0.06567 0.519027060757491 0.0463572 0.987914427877689 TRUE 4.475e-05 ENSE00001094099_005 ENSE00001094099 005 14 51491951 51492120 - 32 96 42 T A 51492002 401 119 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCATCATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC 51025232 51025402 51025283 51025284 51025284 exon -20 0.802083333333333 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCATCATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 831 219 0.997593982268501 1 0.99879699113425 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0275893703406203 0.00270361837566957 0.997942790816347 0.983650496776106 NA 0.0151464943581449 NA FALSE NA 1 4.82 rs147745993 missense_variant MODERATE TRIM9 HGNC 16288 ENST00000298355 2/10 rs147745993 1 deleterious(0.04) benign(0.265) NA A:0.0002 A:0 GTT T,A 2.471e-05 14:51025284 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 missense_variant 3.394309 0.98951 0.95503 0.615465 0.983757334317707 0 0.987914427877689 TRUE 2.0309e-05 ENSE00001094099_006 ENSE00001094099 006 14 51491951 51492120 - 32 96 42 C T 51492005 402 116 GGGTTTCCTTGCGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGTGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025286 51025287 51025287 exon -23 0.770833333333333 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCACAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 24 594 0.981488058159693 0.997593664305034 0.989540861232364 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0114834462318124 0.000297282680703503 0.997942790816347 0.983650496776106 NA 0.00589036445625796 NA FALSE NA 0.997 1.457 . missense_variant MODERATE TRIM9 HGNC 16288 ENST00000298355 2/10 COSM129911&COSM470012 1 deleterious(0) benign(0.014) NA GCG C,T 8.236e-06 14:51025287 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 missense_variant 5.479206 0.99142 0.86309 0.615465 0.998890512926427 0 0.987914427877689 TRUE 4.06204e-06 ENSE00001094099_007 ENSE00001094099 007 14 51491951 51492120 - 32 96 42 C T 51492010 403 111 GGGTTTCCTTGCGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGTTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025291 51025292 51025292 exon -28 0.71875 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAACTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 29 11 1 1 1 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0299953880721192 0.00270361837566957 0.997942790816347 0.983650496776106 NA 0.0163495032238944 NA FALSE NA 0.977 0.61 . synonymous_variant LOW TRIM9 HGNC 16288 ENST00000298355 2/10 rs201255051 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 GCT C,T 5.765e-05 14:51025292 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 synonymous_variant 0.151428 0.9802 0.82573 0.615465 0.418653948690876 0 0.987914427877689 TRUE 4.06151e-05 ENSE00001094099_009 ENSE00001094099 009 14 51491951 51492120 - 32 96 42 C T 51492049 405 72 GGGTTTCCTTGCGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGATAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025330 51025331 51025331 exon 30 0.3125 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTATCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 362 210 1 1 1 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0299953880721192 0.00270361837566957 0.997942790816347 0.983650496776106 NA 0.0163495032238944 NA FALSE NA 1 0.769 . synonymous_variant LOW TRIM9 HGNC 16288 ENST00000298355 2/10 1 NA ACA C,T 8.236e-06 14:51025331 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 synonymous_variant 2.034409 0.97668 0.82427 0.615465 0.778011691699659 0 0.987914427877689 TRUE 4.06154e-06 ENSE00001094099_012 ENSE00001094099 012 14 51491951 51492120 - 32 96 42 G A 51492060 408 61 GGGTTTCCTTGCGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAACGCCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025341 51025342 51025342 exon 19 0.197916666666667 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGTTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 838 361 0.998533839559487 1 0.999266919779744 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0285292276316064 0.00270361837566957 0.997942790816347 0.983650496776106 NA 0.015616423003638 NA FALSE NA 0.996 2.177 . synonymous_variant LOW TRIM9 HGNC 16288 ENST00000298355 2/10 1 NA AGC G,A 8.236e-06 14:51025342 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 synonymous_variant 1.210095 0.99172 0.93507 0.615465 0.803649226500835 0 0.987914427877689 TRUE 4.06544e-06 ENSE00001094099_013 ENSE00001094099 013 14 51491951 51492120 - 32 96 42 G A 51492062 409 59 GGGTTTCCTTGCGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCACCTGGGAGAGCTGGCTCTGCAAAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025343 51025344 51025344 exon 17 0.177083333333333 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGTGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 63 21 1 0.930199502243156 0.965099751121578 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0299953880721192 -0.0670968793811747 0.997942790816347 0.983650496776106 NA -0.0185507456545277 NA FALSE NA 1 9.41 . missense_variant MODERATE TRIM9 HGNC 16288 ENST00000298355 2/10 COSM1230424&COSM1230425 1 tolerated(0.25) benign(0.071) NA CGC G,A 1.647e-05 14:51025344 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 missense_variant 4.28658 0.99515 0.98958 0.615465 0.996058137893716 0 0.987914427877689 TRUE 4.06246e-06 ENSE00001094099_016 ENSE00001094099 016 14 51491951 51492120 - 32 96 42 A G 51492084 412 37 GGGTTTCCTTGCGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAGAGACAAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025365 51025366 51025366 upstr_intron -6 -0.119047619047619 CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTCTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 193 12 1 0.95 0.975 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0299953880721192 -0.0472963816243305 0.997942790816347 0.983650496776106 NA -0.00865049677610563 NA FALSE NA 0 -0.294 . splice_region_variant&intron_variant LOW TRIM9 HGNC 16288 ENST00000298355 1/9 rs200729966 1 G:0.0008 G:0 G:0.0029 NA G:0 G:0.002 G:0 G:0 G:0.0008 AAA A,G 0.0004612 14:51025366 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 splice_region_variant 0.876305 0.3146 0.01669 0.06567 0.771604848276887 0.456775 0.987914427877689 TRUE 0.000455407 ENSE00001094099_017 ENSE00001094099 017 14 51491951 51492120 - 32 96 42 A G 51492089 413 32 GGGTTTCCTTGCGTCCCAGGTAACACCCATACCTGGATCTGCTGGACCATGTTGCGCAGCTGTACCAGAAACTCCTTGGCTTCTTTGGCCCTGTCTGACAGTCCGTTCAGCGCCTGGGAGAGCTGGCTCTGCAAAGACGAAGAAGGAAGCCATGGAGCTGTAATCACAGG 51025232 51025402 51025370 51025371 51025371 upstr_intron -11 -0.238095238095238 CCTGTGATTACAGCTCCATGGCTTCCTTCTTCGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC CCTGTGATTACAGCTCCATGGCTTCCTTCTTTGTCTTTGCAGAGCCAGCTCTCCCAGGCGCTGAACGGACTGTCAGACAGGGCCAAAGAAGCCAAGGAGTTTCTGGTACAGCTGCGCAACATGGTCCAGCAGATCCAGGTATGGGTGTTACCTGGGACGCAAGGAAACCC mutant NA NA NA NA NA 159 412 1 1 1 0.996053910288464 0.999831671344231 0.970004611927881 0.99729638162433 NA NA 0.0299953880721192 0.00270361837566957 0.997942790816347 0.983650496776106 NA 0.0163495032238944 NA FALSE NA 0.625 1.081 . intron_variant MODIFIER TRIM9 HGNC 16288 ENST00000298355 1/9 1 NA CAA A,G 8.236e-06 14:51025371 TRIM9 HGNC Symbol protein_coding 120799 ENSG00000100505 ENSE00001094099 intron_variant 1.719517 0.33314 0.61126 0.06567 0.825125002729929 0.446124 0.987914427877689 TRUE 4.13517e-06 ENSE00001094503_000 ENSE00001094503 000 10 1044899 1045068 + 44 93 33 NA NA NA NA NA CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 NA NA NA NA NA NA CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT natural NA NA NA NA NA 11354 8939 0.990410701183654 0.994087364467708 0.992249032825681 NA NA 0.990410701183654 0.994087364467708 NA NA 0 0 NA 0.992249032825681 NA 0 NA FALSE NA NA NA NA NA NA GTPBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GTPBP4 NA NA NA ENSG00000107937 ENSE00003545578 NA NA NA NA NA NA NA 0.999865566823629 TRUE NA ENSE00001094503_001 ENSE00001094503 001 10 1044899 1045068 + 44 93 33 A C 1044912 27 14 CACAGAGGAAATGCGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 998971 998972 998972 upstr_intron -31 -0.681818181818182 CACAGAGGAAATGCGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1535 2685 0.996410905855186 0.999273841592776 0.997842373723981 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00600020467153184 0.00518647712506848 NA 0.992249032825681 NA 0.00559334089830016 NA FALSE NA 0 -0.423 . intron_variant MODIFIER GTPBP4 HGNC 21535 ENST00000545048 5/16 1 NA GAG A,C 8.236e-06 10:998972 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 intron_variant 0.347606 0.20507 0.02815 0.283894 0.658663221633748 0.0483959 0.999865566823629 TRUE 4.06289e-06 ENSE00001094503_002 ENSE00001094503 002 10 1044899 1045068 + 44 93 33 G A 1044913 28 15 CACAGAGGAAATGAAGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 998972 998973 998973 upstr_intron -30 -0.659090909090909 CACAGAGGAAATGAAGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 2317 1648 0.997540075420096 0.999556624572814 0.998548349996455 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00712937423644233 0.00546926010510662 NA 0.992249032825681 NA 0.00629931717077448 NA FALSE NA 0 -0.292 rs60965306 intron_variant MODIFIER GTPBP4 HGNC 21535 ENST00000545048 5/16 rs60965306 1 A:0.0132 A:0.0484 A:0.0029 NA A:0 A:0 A:0 A:0.0433 A:0.0002 AGG G,A 0.003822 10:998973 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 intron_variant 1.573882 0.22505 0.01823 0.283894 0.925802547143397 0.0483959 0.999865566823629 TRUE 0.003039 ENSE00001094503_004 ENSE00001094503 004 10 1044899 1045068 + 44 93 33 C T 1044929 30 31 CACAGAGGAAATGAGGTGATTCTGAAAGTTTTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 998988 998989 998989 upstr_intron -14 -0.295454545454545 CACAGAGGAAATGAGGTGATTCTGAAAGTTTTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 2711 4403 0.998190943830121 0.997217150483941 0.997704047157031 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00778024264646737 0.00312978601623304 NA 0.992249032825681 NA 0.00545501433135021 NA FALSE NA 0 -0.723 . intron_variant MODIFIER GTPBP4 HGNC 21535 ENST00000545048 5/16 1 NA TCT C,T 8.236e-06 10:998989 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 intron_variant 1.387303 0.13271 0.01514 0.283894 0.826264618951753 0.100164 0.999865566823629 TRUE 4.06134e-06 ENSE00001094503_005 ENSE00001094503 005 10 1044899 1045068 + 44 93 33 T C 1044930 31 32 CACAGAGGAAATGAGGTGATTCTGAAAGTTCCCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 998989 998990 998990 upstr_intron -13 -0.272727272727273 CACAGAGGAAATGAGGTGATTCTGAAAGTTCCCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1345 3164 0.966892375843997 0.997877876144617 0.982385125994307 NA NA 0.990410701183654 0.994087364467708 NA NA -0.023518325339657 0.00379051167690891 NA 0.992249032825681 NA -0.00986390683137406 NA FALSE NA 0.001 0.175 . intron_variant MODIFIER GTPBP4 HGNC 21535 ENST00000545048 5/16 1 NA CTC T,C 5.765e-05 10:998990 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 intron_variant 1.428765 0.24576 0.14934 0.283894 0.844339382772421 0.100164 0.999865566823629 TRUE 2.84271e-05 ENSE00001094503_006 ENSE00001094503 006 10 1044899 1045068 + 44 93 33 C T 1044947 32 49 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGATGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999006 999007 999007 exon 5 0.0537634408602151 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGATGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1304 2367 0.955392445725559 0.995493143483182 0.97544279460437 NA NA 0.990410701183654 0.994087364467708 NA NA -0.035018255458095 0.00140577901547401 NA 0.992249032825681 NA -0.0168062382213105 NA FALSE NA 1 7.587 . missense_variant MODERATE GTPBP4 HGNC 21535 ENST00000545048 6/17 1 possibly_damaging(0.888) NA ACG C,T 1.647e-05 10:999007 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 missense_variant 7.281115 0.98336 0.96933 0.67177 0.999333621570422 0 0.999865566823629 TRUE 1.21827e-05 ENSE00001094503_007 ENSE00001094503 007 10 1044899 1045068 + 44 93 33 G A 1044948 33 50 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACAAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999007 999008 999008 exon 6 0.0645161290322581 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACAAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1644 2439 0.998673781941919 0.989868281855447 0.994271031898683 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00826308075826521 -0.00421908261226067 NA 0.992249032825681 NA 0.00202199907300227 NA FALSE NA 0.393 -0.217 rs151220214 synonymous_variant LOW GTPBP4 HGNC 21535 ENST00000545048 6/17 rs151220214 1 NA A:0.0005 A:0 CGA G,A 2.471e-05 10:999008 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 synonymous_variant 1.566775 0.76581 0.26444 0.67177 0.716112802980051 0 0.999865566823629 TRUE 2.03039e-05 ENSE00001094503_008 ENSE00001094503 008 10 1044899 1045068 + 44 93 33 A G 1044954 34 56 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCGGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999013 999014 999014 exon 12 0.129032258064516 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCGGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 6999 2682 0.985059360738655 0.998207670537484 0.99163351563807 NA NA 0.990410701183654 0.994087364467708 NA NA -0.00535134044499863 0.00412030606977631 NA 0.992249032825681 NA -0.000615517187611159 NA FALSE NA 0.66 -0.094 . synonymous_variant LOW GTPBP4 HGNC 21535 ENST00000545048 6/17 1 NA CAG A,G 8.236e-06 10:999014 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 synonymous_variant 0.912916 0.92004 0.64201 0.67177 0.698004045348876 0 0.999865566823629 TRUE 8.12123e-06 ENSE00001094503_009 ENSE00001094503 009 10 1044899 1045068 + 44 93 33 C T 1044957 35 59 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGATGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999016 999017 999017 exon 15 0.161290322580645 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGATGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1272 3321 0.796662235235343 0.98930033441718 0.892981284826261 NA NA 0.990410701183654 0.994087364467708 NA NA -0.193748465948311 -0.00478703005052816 NA 0.992249032825681 NA -0.0992677479994195 NA FALSE NA 1 1.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:999017 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 synonymous_variant 1.832394 0.86895 0.28728 0.67177 0.734501500423259 0 0.999865566823629 TRUE 6.09107e-05 ENSE00001094503_010 ENSE00001094503 010 10 1044899 1045068 + 44 93 33 C A 1044957 36 59 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGAAGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999016 999017 999017 exon 15 0.161290322580645 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGAAGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1224 4547 0.995428385006354 0.9827806471766 0.989104516091477 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00501768382270029 -0.0113067172911074 NA 0.992249032825681 NA -0.00314451673420357 NA FALSE NA 1 1.017 NA NA NA GTPBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GTPBP4 NA NA NA ENSG00000107937 ENSE00003545578 missense_variant 5.862809 0.94171 0.81107 0.67177 0.994289916898721 0 0.999865566823629 TRUE 4.06072e-06 ENSE00001094503_011 ENSE00001094503 011 10 1044899 1045068 + 44 93 33 G A 1044961 37 63 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGAATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999020 999021 999021 exon 19 0.204301075268817 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGAATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1582 1279 0.99150335768794 0.988615776432069 0.990059567060004 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00109265650428558 -0.0054715880356393 NA 0.992249032825681 NA -0.00218946576567686 NA FALSE NA 1 9.57 . missense_variant MODERATE GTPBP4 HGNC 21535 ENST00000545048 6/17 1 benign(0.131) NA GGA G,A 3.295e-05 10:999021 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 missense_variant 5.313131 0.98421 0.9796 0.67177 0.999148861814247 0 0.999865566823629 TRUE 4.06091e-05 ENSE00001094503_012 ENSE00001094503 012 10 1044899 1045068 + 44 93 33 T C 1044973 38 75 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCCATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999032 999033 999033 exon 31 0.333333333333333 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCCATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1268 1143 0.971340711647792 0.850426143299075 0.910883427473434 NA NA 0.990410701183654 0.994087364467708 NA NA -0.0190699895358617 -0.143661221168633 NA 0.992249032825681 NA -0.0813656053522472 NA FALSE NA 1 7.802 . missense_variant MODERATE GTPBP4 HGNC 21535 ENST00000545048 6/17 rs373574581 1 probably_damaging(0.99) NA C:0.0002 C:0 CTA T,C 8.236e-06 10:999033 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 missense_variant 5.069316 0.96017 0.9458 0.67177 0.99829171859974 0 0.999865566823629 TRUE 4.06065e-06 ENSE00001094503_013 ENSE00001094503 013 10 1044899 1045068 + 44 93 33 G A 1044976 39 78 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATACGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999035 999036 999036 exon 34 0.365591397849462 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATACGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 691 894 0.995822938403208 0.998191812360151 0.997007375381679 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00541223721955375 0.00410444789244346 NA 0.992249032825681 NA 0.00475834255599861 NA FALSE NA 1 9.57 . missense_variant MODERATE GTPBP4 HGNC 21535 ENST00000545048 6/17 1 probably_damaging(0.968) NA TGC G,A 8.236e-06 10:999036 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 missense_variant 6.11192 0.97851 0.97127 0.67177 0.999314103859373 0 0.999865566823629 TRUE 2.84248e-05 ENSE00001094503_014 ENSE00001094503 014 10 1044899 1045068 + 44 93 33 C T 1044977 40 79 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGTGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999036 999037 999037 exon 35 0.376344086021505 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGTGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1655 3770 0.997257684056477 0.995946613341285 0.996602148698881 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00684698287282337 0.00185924887357758 NA 0.992249032825681 NA 0.00435311587320047 NA FALSE NA 1 7.587 . missense_variant MODERATE GTPBP4 HGNC 21535 ENST00000545048 6/17 rs376110021 1 possibly_damaging(0.701) NA T:0.0002 T:0 GCG C,T 3.295e-05 10:999037 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 missense_variant 6.630856 0.97813 0.95601 0.67177 0.99913253988465 0 0.999865566823629 TRUE 4.46682e-05 ENSE00001094503_015 ENSE00001094503 015 10 1044899 1045068 + 44 93 33 G A 1044978 41 80 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCATTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999037 999038 999038 exon 36 0.387096774193548 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCATTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant 10 14 0.966327981059893 0.944512507292774 0.955420244176333 4302 1797 0.988551437598145 0.999735881731118 0.994143659664631 NA NA 0.990410701183654 0.994087364467708 NA NA -0.00185926358550925 0.00564851726340987 NA 0.992249032825681 NA 0.00189462683895031 NA FALSE NA 0.486 -0.186 . synonymous_variant LOW GTPBP4 HGNC 21535 ENST00000545048 6/17 rs567535488&COSM3806360 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 8.236e-06 10:999038 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 synonymous_variant 1.23546 0.89878 0.36477 0.67177 0.484581669110193 0 0.999865566823629 TRUE 8.12137e-06 ENSE00001094503_017 ENSE00001094503 017 10 1044899 1045068 + 44 93 33 T C 1044999 43 101 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTCGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999058 999059 999059 exon -37 0.612903225806452 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTCGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 523 2677 0.996098460095451 0.999572370612887 0.997835415354169 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00568775891179718 0.00548500614517899 NA 0.992249032825681 NA 0.00558638252848809 NA FALSE NA 1 4.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:999059 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 synonymous_variant 0.323934 0.96016 0.90194 0.67177 0.693620373001063 0 0.999865566823629 TRUE 4.06068e-06 ENSE00001094503_018 ENSE00001094503 018 10 1044899 1045068 + 44 93 33 T G 1044999 44 101 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTGGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999058 999059 999059 exon -37 0.612903225806452 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTGGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 1505 2981 0.997387361367185 0.996753170193832 0.997070265780508 NA NA 0.990410701183654 0.994087364467708 NA NA 0.0069766601835306 0.00266580572612374 NA 0.992249032825681 NA 0.00482123295482717 NA FALSE NA 1 4.042 NA NA NA GTPBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GTPBP4 NA NA NA ENSG00000107937 ENSE00003545578 missense_variant 4.573081 0.96166 0.92277 0.67177 0.998499286037216 0 0.999865566823629 TRUE 4.06068e-06 ENSE00001094503_019 ENSE00001094503 019 10 1044899 1045068 + 44 93 33 A G 1045009 45 111 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACGTGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999068 999069 999069 exon -27 0.720430107526882 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACGTGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 4024 4940 0.943119259462061 0.99836464908046 0.970741954271261 NA NA 0.990410701183654 0.994087364467708 NA NA -0.0472914417215926 0.00427728461275168 NA 0.992249032825681 NA -0.0215070785544205 NA FALSE NA 1 9.059 . missense_variant MODERATE GTPBP4 HGNC 21535 ENST00000545048 6/17 1 benign(0.003) NA CAT A,G 8.236e-06 10:999069 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 missense_variant 2.253117 0.97311 0.96765 0.67177 0.977909463798872 0 0.999865566823629 TRUE 4.06085e-06 ENSE00001094503_020 ENSE00001094503 020 10 1044899 1045068 + 44 93 33 G A 1045020 46 122 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAATATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999079 999080 999080 exon -16 0.838709677419355 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAATATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 2924 815 0.915520780259765 0.892505937541768 0.904013358900767 NA NA 0.990410701183654 0.994087364467708 NA NA -0.074889920923889 -0.10158142692594 NA 0.992249032825681 NA -0.0882356739249144 NA FALSE NA 1 1.388 . synonymous_variant LOW GTPBP4 HGNC 21535 ENST00000545048 6/17 rs529872363 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 AGT G,A 1.647e-05 10:999080 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 synonymous_variant 1.649231 0.93609 0.7548 0.67177 0.579238671946124 0 0.999865566823629 TRUE 1.62437e-05 ENSE00001094503_021 ENSE00001094503 021 10 1044899 1045068 + 44 93 33 A G 1045026 47 128 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTGCGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999085 999086 999086 exon -10 0.903225806451613 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTGCGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant 23 18 0.997963346590448 0.965951804782126 0.981957575686287 644 613 0.946739259108995 0.997151347469766 0.971945303289381 NA NA 0.990410701183654 0.994087364467708 NA NA -0.0436714420746586 0.00306398300205846 NA 0.992249032825681 NA -0.0203037295363001 NA FALSE NA 1 0.583 . synonymous_variant LOW GTPBP4 HGNC 21535 ENST00000545048 6/17 rs546730627 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TAC A,G 1.647e-05 10:999086 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 synonymous_variant 0.620006 0.9076 0.52878 0.67177 0.665258542481942 0 0.999865566823629 TRUE 8.12209e-06 ENSE00001094503_022 ENSE00001094503 022 10 1044899 1045068 + 44 93 33 C T 1045027 48 129 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTATGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999086 999087 999087 exon -9 0.913978494623656 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTATGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 2976 2417 0.956658829123063 0.873272030890528 0.914965430006795 NA NA 0.990410701183654 0.994087364467708 NA NA -0.0337518720605909 -0.12081533357718 NA 0.992249032825681 NA -0.0772836028188855 NA FALSE NA 1 7.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:999087 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 missense_variant 8.310072 0.97813 0.95601 0.67177 0.999429554091465 0 0.999865566823629 TRUE 4.06121e-05 ENSE00001094503_023 ENSE00001094503 023 10 1044899 1045068 + 44 93 33 C A 1045027 49 129 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTAAGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999086 999087 999087 exon -9 0.913978494623656 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTAAGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 919 1170 0.995578437824086 0.992008433736303 0.993793435780194 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00516773664043202 -0.0020789307314053 NA 0.992249032825681 NA 0.00154440295451336 NA FALSE NA 1 7.587 NA NA NA GTPBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GTPBP4 NA NA NA ENSG00000107937 ENSE00003545578 missense_variant 7.820414 0.97872 0.96325 0.67177 0.997344237903748 0 0.999865566823629 TRUE 4.06121e-06 ENSE00001094503_024 ENSE00001094503 024 10 1044899 1045068 + 44 93 33 G A 1045028 50 130 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACATTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999087 999088 999088 exon -8 0.924731182795699 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACATTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant 16 18 1 0.99937070954716 0.99968535477358 2904 4961 0.930726480634016 0.996658415190884 0.96369244791245 NA NA 0.990410701183654 0.994087364467708 NA NA -0.0596842205496384 0.0025710507231762 NA 0.992249032825681 NA -0.0285565849132311 NA FALSE NA 1 9.57 . missense_variant MODERATE GTPBP4 HGNC 21535 ENST00000545048 6/17 rs566484717 1 probably_damaging(0.999) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGT G,A 2.471e-05 10:999088 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 missense_variant 7.631195 0.97851 0.97127 0.67177 0.999453742524123 0 0.999865566823629 TRUE 1.21838e-05 ENSE00001094503_025 ENSE00001094503 025 10 1044899 1045068 + 44 93 33 G A 1045035 51 137 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAAGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999094 999095 999095 exon -1 1 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAAGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant 112 230 0.85 0.85 0.85 2114 515 0.736014840264719 0.898588590198236 0.817301715231478 NA NA 0.990410701183654 0.994087364467708 NA NA -0.254395860918935 -0.0954987742694714 NA 0.992249032825681 NA -0.174947317594203 NA FALSE NA 1 7.733 rs141450164 splice_region_variant&synonymous_variant LOW GTPBP4 HGNC 21535 ENST00000545048 6/17 rs141450164&COSM307680 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 AGG G,A 0.001252 10:999095 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 splice_region_variant 1.841121 0.9774 0.96181 0.67177 0.933147244544332 0 0.999865566823629 TRUE 0.0011823 ENSE00001094503_026 ENSE00001094503 026 10 1044899 1045068 + 44 93 33 G A 1045042 52 144 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAATCTTGTCTTTATTTTTATTCATTTAT 998958 999128 999101 999102 999102 downstr_intron 7 1.21875 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAATCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 637 1405 0.999222149848101 0.999674296521804 0.999448223184952 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00881144866444672 0.00558693205409599 NA 0.992249032825681 NA 0.00719919035927136 NA FALSE NA 0.041 0.769 . splice_region_variant&intron_variant LOW GTPBP4 HGNC 21535 ENST00000545048 6/16 1 NA AGT G,A 8.236e-06 10:999102 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 splice_region_variant 0.917542 0.71286 0.1961 0.069865 0.472161361734439 0.170898 0.999865566823629 TRUE 4.06653e-06 ENSE00001094503_027 ENSE00001094503 027 10 1044899 1045068 + 44 93 33 T G 1045050 53 152 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCGTTATTTTTATTCATTTAT 998958 999128 999109 999110 999110 downstr_intron 15 1.46875 CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCGTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT mutant NA NA NA NA NA 991 846 0.996424124693553 0.996974664384181 0.996699394538867 NA NA 0.990410701183654 0.994087364467708 NA NA 0.00601342350989864 0.00288729991647341 NA 0.992249032825681 NA 0.00445036171318602 NA FALSE NA 0.555 3.525 . intron_variant MODIFIER GTPBP4 HGNC 21535 ENST00000545048 6/16 1 NA CTT T,G 8.237e-06 10:999110 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003545578 intron_variant 0.654629 0.9543 0.73607 0.069865 0.677500623480444 0.656456 0.999865566823629 TRUE 4.08303e-06 ENSE00001094503_BRK ENSE00001094503 BRK 10 1044899 1045068 + 44 93 33 A,G; T,T NA NA NA CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCTTGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGCCGAGAGTCTTGTCTTTATTTTTATTCATTTAT 998958 999128 NA NA NA NA NA NA CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCTTGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGCCGAGAGTCTTGTCTTTATTTTTATTCATTTAT CACAGAGGAAATGAGGTGATTCTGAAAGTTCTCACTTGTTCCAGGTGACGAGAGCAGACGTGGATGTCCAGCCCTATGCGTTCACAACCAAGTCTCTGTTTGTTGGGCACATGGATTATAAGTATCTACGTTGGCAGGTGAGAGTCTTGTCTTTATTTTTATTCATTTAT control NA NA NA NA NA 2618 1443 0.00708850410042934 0.0077633842390595 0.00742594416974442 NA NA 0.990410701183654 0.994087364467708 NA NA -0.983322197083225 -0.986323980228648 NA 0.992249032825681 NA -0.984823088655936 NA TRUE NA NA NA NA NA NA GTPBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GTPBP4 NA NA NA ENSG00000107937 ENSE00003545578 NA NA NA NA NA NA NA 0.999865566823629 TRUE NA ENSE00001094870_000 ENSE00001094870 000 10 13779808 13779977 - 36 87 47 NA NA NA NA NA TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC 13737807 13737977 NA NA NA NA NA NA TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC natural 101 62 0.996249781419387 0.991598033141697 0.993923907280542 1243 291 0.90392708895011 0.99487039939324 0.949398744171675 0.996249781419387 0.991598033141697 0.90392708895011 0.99487039939324 0 0 0 0 0.993923907280542 0.949398744171675 0 0 0 FALSE FALSE NA NA NA NA NA FRMD4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4A NA NA NA ENSG00000151474 ENSE00001094870 NA NA NA NA NA NA NA 0.999986541343185 TRUE NA ENSE00001094873_000 ENSE00001094873 000 10 13900800 13900969 - 47 66 57 NA NA NA NA NA CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 NA NA NA NA NA NA CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT natural 217 96 0.859721747921419 0.959790415352773 0.909756081637096 4819 6215 0.944043636427412 0.935086295512502 0.939564965969957 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 0 0 0 0 0.909756081637096 0.939564965969957 0 0 0 FALSE FALSE NA NA NA NA NA FRMD4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4A NA NA NA ENSG00000151474 ENSE00001094873 NA NA NA NA NA NA NA 0.999986541343185 TRUE NA ENSE00001094873_001 ENSE00001094873 001 10 13900800 13900969 - 47 66 57 A T 13900818 363 152 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGATTCTTTGGTGACTGATGT 13858799 13858969 13858817 13858818 13858818 downstr_intron 29 1.6304347826087 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGATTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 66 688 1 0.977077402335086 0.988538701167543 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0559563635725885 0.0419911068225832 0.909756081637096 0.939564965969957 NA 0.0489737351975859 NA FALSE NA 0.001 0.107 . intron_variant MODIFIER FRMD4A HGNC 25491 ENST00000378503 2/22 1 NA AAC A,T 8.236e-06 10:13858818 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 intron_variant 0.296377 0.24288 0.12226 0.078448 0.804494131706702 0.0476637 0.999986541343185 TRUE 4.06699e-06 ENSE00001094873_002 ENSE00001094873 002 10 13900800 13900969 - 47 66 57 C T 13900819 364 151 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAATTTCTTTGGTGACTGATGT 13858799 13858969 13858818 13858819 13858819 downstr_intron 28 1.60869565217391 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAATTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 1054 1408 0.999687221317069 0.99190216922872 0.995794695272895 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0556435848896579 0.0568158737162178 0.909756081637096 0.939564965969957 NA 0.0562297293029378 NA FALSE NA 0 -0.026 . intron_variant MODIFIER FRMD4A HGNC 25491 ENST00000378503 2/22 rs377018478 1 NA T:0.0005 T:0 ACT C,T 3.295e-05 10:13858819 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 intron_variant 0.438113 0.18656 0.06256 0.078448 0.731655164408686 0.0476637 0.999986541343185 TRUE 4.47322e-05 ENSE00001094873_003 ENSE00001094873 003 10 13900800 13900969 - 47 66 57 C G 13900821 365 149 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTCAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858820 13858821 13858821 downstr_intron 26 1.56521739130435 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTCAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 149 80 0.998969944030429 1 0.999484972015215 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0549263076030179 0.0649137044874976 0.909756081637096 0.939564965969957 NA 0.0599200060452577 NA FALSE NA 0 -4.092 . intron_variant MODIFIER FRMD4A HGNC 25491 ENST00000378503 2/22 rs202198251 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TCA C,G 8.236e-06 10:13858821 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 intron_variant -0.122242 0.10037 0.01721 0.078448 0.648854732690056 0.0476637 0.999986541343185 TRUE NA ENSE00001094873_004 ENSE00001094873 004 10 13900800 13900969 - 47 66 57 G A 13900823 366 147 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTTTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858822 13858823 13858823 downstr_intron 24 1.52173913043478 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTTTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 1512 316 0.982687762349744 0.99755437800503 0.990121070177387 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0386441259223328 0.0624680824925276 0.909756081637096 0.939564965969957 NA 0.0505561042074302 NA FALSE NA 0.01 1.133 . intron_variant MODIFIER FRMD4A HGNC 25491 ENST00000378503 2/22 rs373657300 1 NA AGA G,A 7.413e-05 10:13858823 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 intron_variant 0.400618 0.19724 0.10126 0.078448 0.703503792794678 0.0476637 0.999986541343185 TRUE 5.69069e-05 ENSE00001094873_006 ENSE00001094873 006 10 13900800 13900969 - 47 66 57 C T 13900839 368 131 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCACTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858838 13858839 13858839 downstr_intron 8 1.17391304347826 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCACTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 104 179 0.989521025936933 1 0.994760512968467 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0454773895095218 0.0649137044874976 0.909756081637096 0.939564965969957 NA 0.0551955469985097 NA FALSE NA 0 -0.184 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:13858839 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 splice_region_variant 0.286515 0.16165 0.00076 0.078448 0.589307260459266 0.0529121 0.999986541343185 TRUE 1.21917e-05 ENSE00001094873_007 ENSE00001094873 007 10 13900800 13900969 - 47 66 57 C G 13900839 369 131 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCCCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858838 13858839 13858839 downstr_intron 8 1.17391304347826 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCCCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 1000 507 0.98659078863378 0.969494571468478 0.978042680051129 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0425471522063688 0.0344082759559754 0.909756081637096 0.939564965969957 NA 0.0384777140811721 NA FALSE NA 0 -0.184 NA NA NA FRMD4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4A NA NA NA ENSG00000151474 ENSE00001094873 splice_region_variant 0.02874 0.19216 0.01441 0.078448 0.471049723468725 0.0529121 0.999986541343185 TRUE 4.06388e-06 ENSE00001094873_008 ENSE00001094873 008 10 13900800 13900969 - 47 66 57 G A 13900840 370 130 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATTGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858839 13858840 13858840 downstr_intron 7 1.15217391304348 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATTGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant 16 16 0.984062711279686 1 0.992031355639843 22 461 1 1 1 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 0.124340963358266 0.0402095846472267 0.0559563635725885 0.0649137044874976 0.909756081637096 0.939564965969957 0.0822752740027465 0.060435034030043 0.0218402399727035 FALSE FALSE 0 0.53 . splice_region_variant&intron_variant LOW FRMD4A HGNC 25491 ENST00000378503 2/22 rs201226682 1 A:0.0014 A:0.0053 A:0 NA A:0 A:0 A:0 A:0.01 A:0.0001 CGA G,A 0.0008648 10:13858840 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 splice_region_variant 0.219576 0.19566 0.03246 0.078448 0.36359564712498 0.114747 0.999986541343185 TRUE 0.000715162 ENSE00001094873_009 ENSE00001094873 009 10 13900800 13900969 - 47 66 57 T G 13900853 371 117 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTCGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858852 13858853 13858853 exon -7 0.909090909090909 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTCGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 726 2665 0.945250936073696 1 0.972625468036848 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.00120729964628419 0.0649137044874976 0.909756081637096 0.939564965969957 NA 0.0330605020668909 NA FALSE NA 0.955 -0.401 rs140383155 synonymous_variant LOW FRMD4A HGNC 25491 ENST00000378503 2/23 rs140383155 1 NA G:0.0007 G:0.001 CTA T,G 0.0005518 10:13858853 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 synonymous_variant 1.286947 0.95681 0.39156 0.706298 0.772109919660798 0 0.999986541343185 TRUE 0.000434624 ENSE00001094873_010 ENSE00001094873 010 10 13900800 13900969 - 47 66 57 G C 13900858 372 112 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAAGTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858857 13858858 13858858 exon -12 0.833333333333333 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAAGTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 168 881 1 0.954716002733496 0.977358001366748 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0559563635725885 0.0196297072209933 0.909756081637096 0.939564965969957 NA 0.0377930353967909 NA FALSE NA 1 7.342 . missense_variant MODERATE FRMD4A HGNC 25491 ENST00000378503 2/23 1 deleterious(0.03) benign(0.019) NA AGT G,C 8.236e-06 10:13858858 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 missense_variant 4.089707 0.99067 0.97157 0.706298 0.989055835107206 0 0.999986541343185 TRUE 4.0621e-06 ENSE00001094873_012 ENSE00001094873 012 10 13900800 13900969 - 47 66 57 C G 13900876 374 94 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTCATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858875 13858876 13858876 exon -30 0.560606060606061 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTCATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 190 87 1 1 1 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0559563635725885 0.0649137044874976 0.909756081637096 0.939564965969957 NA 0.060435034030043 NA FALSE NA 1 5.832 . missense_variant MODERATE FRMD4A HGNC 25491 ENST00000378503 2/23 1 deleterious(0) probably_damaging(0.947) NA TCA C,G 8.236e-06 10:13858876 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 missense_variant 6.239258 0.99052 0.95719 0.706298 0.995640098665699 0 0.999986541343185 TRUE 4.06299e-06 ENSE00001094873_013 ENSE00001094873 013 10 13900800 13900969 - 47 66 57 A C 13900877 375 93 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTGGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858876 13858877 13858877 exon -31 0.545454545454545 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTGGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 1936 240 0.998666711189751 0.889261231363133 0.943963971276442 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.05462307476234 -0.0458250641493699 0.909756081637096 0.939564965969957 NA 0.00439900530648502 NA FALSE NA 0.171 -0.201 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:13858877 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 synonymous_variant 0.247445 0.95892 0.3765 0.706298 0.805882899569017 0 0.999986541343185 TRUE 4.06289e-06 ENSE00001094873_014 ENSE00001094873 014 10 13900800 13900969 - 47 66 57 A T 13900877 376 93 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTAGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858876 13858877 13858877 exon -31 0.545454545454545 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTAGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 655 31 0.998123036861673 1 0.999061518430836 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0540794004342615 0.0649137044874976 0.909756081637096 0.939564965969957 NA 0.0594965524608795 NA FALSE NA 0.171 -0.201 NA NA NA FRMD4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4A NA NA NA ENSG00000151474 ENSE00001094873 synonymous_variant 0.169139 0.95911 0.36714 0.706298 0.79442707356399 0 0.999986541343185 TRUE 1.21887e-05 ENSE00001094873_016 ENSE00001094873 016 10 13900800 13900969 - 47 66 57 T A 13900895 378 75 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGTTGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858894 13858895 13858895 exon 18 0.272727272727273 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGTTGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 801 776 0.994210065219387 0.988933347065306 0.991571706142346 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0501664287919752 0.0538470515528034 0.909756081637096 0.939564965969957 NA 0.0520067401723893 NA FALSE NA 1 1.041 . synonymous_variant LOW FRMD4A HGNC 25491 ENST00000378503 2/23 1 NA ATC T,A 1.647e-05 10:13858895 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 synonymous_variant 1.591335 0.97506 0.80099 0.706298 0.815305124138983 0 0.999986541343185 TRUE 8.1285e-06 ENSE00001094873_017 ENSE00001094873 017 10 13900800 13900969 - 47 66 57 C T 13900896 379 74 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCAATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858895 13858896 13858896 exon 17 0.257575757575758 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCAATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 77 361 1 0.990678009004564 0.995339004502282 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0559563635725885 0.0555917134920618 0.909756081637096 0.939564965969957 NA 0.0557740385323252 NA FALSE NA 1 3.23 . missense_variant MODERATE FRMD4A HGNC 25491 ENST00000378503 2/23 rs376872935&COSM916584 1 tolerated(0.21) benign(0.273) NA TCG C,T 2.471e-05 10:13858896 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 missense_variant 4.571824 0.99 0.90525 0.706298 0.998053714012289 0 0.999986541343185 TRUE 1.62595e-05 ENSE00001094873_018 ENSE00001094873 018 10 13900800 13900969 - 47 66 57 G A 13900898 380 72 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGTCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858897 13858898 13858898 exon 15 0.227272727272727 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGTCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 563 335 0.855379961873254 1 0.927689980936627 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA -0.0886636745541571 0.0649137044874976 0.909756081637096 0.939564965969957 NA -0.0118749850333298 NA FALSE NA 1 1.211 . synonymous_variant LOW FRMD4A HGNC 25491 ENST00000378503 2/23 1 NA GGC G,A 8.236e-06 10:13858898 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 synonymous_variant 1.176184 0.96337 0.44748 0.706298 0.696759746930265 0 0.999986541343185 TRUE 4.06527e-06 ENSE00001094873_021 ENSE00001094873 021 10 13900800 13900969 - 47 66 57 T C 13900912 383 58 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGGTGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858911 13858912 13858912 exon 1 0.0151515151515152 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGGTGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 38 1161 1 0.999863755308765 0.999931877654383 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0559563635725885 0.0647774597962628 0.909756081637096 0.939564965969957 NA 0.0603669116844257 NA FALSE NA 1 5.994 . missense_variant&splice_region_variant MODERATE FRMD4A HGNC 25491 ENST00000378503 2/23 1 deleterious(0.01) possibly_damaging(0.824) NA ATC T,C 8.236e-06 10:13858912 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 missense_variant 4.917662 0.98738 0.93834 0.615465 0.995494369590889 0 0.999986541343185 TRUE 4.06749e-06 ENSE00001094873_022 ENSE00001094873 022 10 13900800 13900969 - 47 66 57 A C 13900916 384 54 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCGTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858915 13858916 13858916 upstr_intron -4 -0.0526315789473684 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCGTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 1093 272 0.952753705589781 1 0.97637685279489 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.00871006916236905 0.0649137044874976 0.909756081637096 0.939564965969957 NA 0.0368118868249333 NA FALSE NA 0.025 -2.224 . splice_region_variant&intron_variant LOW FRMD4A HGNC 25491 ENST00000378503 1/22 1 NA AAG A,C 8.236e-06 10:13858916 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 splice_region_variant 1.120857 0.16522 0.02125 0.078051 0.838392983939131 0.274731 0.999986541343185 TRUE 4.06944e-06 ENSE00001094873_023 ENSE00001094873 023 10 13900800 13900969 - 47 66 57 G C 13900917 385 53 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTGTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858916 13858917 13858917 upstr_intron -5 -0.0701754385964912 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTGTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 132 921 0.988551029744087 0.999958668271582 0.994254849007834 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0445073933166759 0.0648723727590791 0.909756081637096 0.939564965969957 NA 0.0546898830378775 NA FALSE NA 0.869 0.337 . splice_region_variant&intron_variant LOW FRMD4A HGNC 25491 ENST00000378503 1/22 1 NA AGA G,C 8.236e-06 10:13858917 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 splice_region_variant 1.285078 0.22945 0.1077 0.078051 0.750837934094001 0.274731 0.999986541343185 TRUE 4.0699e-06 ENSE00001094873_024 ENSE00001094873 024 10 13900800 13900969 - 47 66 57 G C 13900920 386 50 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCGCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858919 13858920 13858920 upstr_intron -8 -0.12280701754386 CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCGCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 130 499 0.984397822246765 0.994230999744984 0.989314410995874 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.0403541858193535 0.0591447042324816 0.909756081637096 0.939564965969957 NA 0.0497494450259175 NA FALSE NA 0.773 -0.054 . splice_region_variant&intron_variant LOW FRMD4A HGNC 25491 ENST00000378503 1/22 rs377645888 1 NA C:0.0005 C:0 GGG G,C 1.647e-05 10:13858920 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 splice_region_variant 0.96989 0.26599 0.06159 0.078051 0.78361157356362 0.274731 0.999986541343185 TRUE 8.14312e-06 ENSE00001094873_026 ENSE00001094873 026 10 13900800 13900969 - 47 66 57 C G 13900959 388 11 CTAACCCTTTCTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 13858958 13858959 13858959 upstr_intron -47 -0.807017543859649 CTAACCCTTTCTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT mutant NA NA NA NA NA 544 547 0.98579841838883 0.999301214517525 0.992549816453177 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 NA NA 0.041754781961418 0.0642149190050224 0.909756081637096 0.939564965969957 NA 0.0529848504832202 NA FALSE NA 0 -0.347 . intron_variant MODIFIER FRMD4A HGNC 25491 ENST00000378503 1/22 1 NA ACA C,G 1.647e-05 10:13858959 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094873 intron_variant 0.002531 0.19792 0.01675 0.078051 0.531548148571878 0.0476928 0.999986541343185 TRUE 8.2017e-06 ENSE00001094873_BRK ENSE00001094873 BRK 10 13900800 13900969 - 47 66 57 A,G; T,T NA NA NA CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTTTATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGCCAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT 13858799 13858969 NA NA NA NA NA NA CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTTTATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGCCAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT CTAACCCTTTGTCTGGCTGCTAGACTCTCAGTGACTACCATTTCTCTTCCCTCTTAGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGGAAGCTGGAACTCCTAGTACAGGTAAATCGCTTTTGGTCAACTTTCTGAGTTTCTTTGGTGACTGATGT control 14 13 0 0 0 NA NA NA NA NA 0.859721747921419 0.959790415352773 0.944043636427412 0.935086295512502 -0.859721747921419 -0.959790415352773 NA NA 0.909756081637096 0.939564965969957 -0.909756081637096 NA NA NA TRUE NA NA NA NA NA FRMD4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4A NA NA NA ENSG00000151474 ENSE00001094873 NA NA NA NA NA NA NA 0.999986541343185 TRUE NA ENSE00001095406_000 ENSE00001095406 000 9 134759386 134759555 - 59 42 69 NA NA NA NA NA ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 NA NA NA NA NA NA ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG natural NA NA NA NA NA 1230 973 0.986089371101927 0.996441214201562 0.991265292651744 NA NA 0.986089371101927 0.996441214201562 NA NA 0 0 NA 0.991265292651744 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED27 NA NA NA ENSG00000160563 ENSE00001095406 NA NA NA NA NA NA NA 0.00360424731766106 FALSE NA ENSE00001095406_002 ENSE00001095406 002 9 134759386 134759555 - 59 42 69 C T 134759399 3209 157 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACATGAATGCTTTGAG 131883998 131884168 131884011 131884012 131884012 downstr_intron 46 1.79310344827586 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACATGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 13 42 1 1 1 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0139106288980734 0.00355878579843782 NA 0.991265292651744 NA 0.0087347073482556 NA FALSE NA 0 -1.833 NA NA NA MED27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:131884012 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant -0.961729 0.04637 0.00444 0.078448 0.718727344456898 0.0666035 0.00360424731766106 FALSE 4.24113e-05 ENSE00001095406_005 ENSE00001095406 005 9 134759386 134759555 - 59 42 69 A C 134759423 3212 133 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCGTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884035 131884036 131884036 downstr_intron 22 1.37931034482759 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCGTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 444 1473 0.99540589655075 1 0.997702948275375 NA NA 0.986089371101927 0.996441214201562 NA NA 0.00931652544882333 0.00355878579843782 NA 0.991265292651744 NA 0.00643765562363058 NA FALSE NA 0.81 1.826 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 6/7 1 NA AAG A,C 8.236e-06 9:131884036 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant 0.85318 0.2759 0.75904 0.162113 0.727350812329824 0.0666469 0.00360424731766106 FALSE 1.22675e-05 ENSE00001095406_009 ENSE00001095406 009 9 134759386 134759555 - 59 42 69 A G 134759479 3216 77 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATACATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884091 131884092 131884092 exon 8 0.19047619047619 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATACATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 236 25 1 1 1 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0139106288980734 0.00355878579843782 NA 0.991265292651744 NA 0.0087347073482556 NA FALSE NA 1 8.703 . missense_variant MODERATE MED27 HGNC 2377 ENST00000292035 6/8 1 deleterious(0.04) possibly_damaging(0.833) NA TAT A,G 8.236e-06 9:131884092 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 missense_variant 5.144041 0.99404 0.99442 0.615465 0.998152030238953 0 0.00360424731766106 FALSE 4.13791e-06 ENSE00001095406_010 ENSE00001095406 010 9 134759386 134759555 - 59 42 69 T C 134759480 3217 76 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATGTATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884092 131884093 131884093 exon 7 0.166666666666667 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATGTATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 87 720 1 0.999621288676462 0.999810644338231 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0139106288980734 0.00318007447490032 NA 0.991265292651744 NA 0.00854535168648685 NA FALSE NA 1 7.473 . missense_variant MODERATE MED27 HGNC 2377 ENST00000292035 6/8 1 deleterious(0.03) benign(0.112) NA ATA T,C 8.236e-06 9:131884093 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 missense_variant 2.542699 0.99365 0.99046 0.615465 0.99616010010101 0 0.00360424731766106 FALSE 4.14662e-06 ENSE00001095406_011 ENSE00001095406 011 9 134759386 134759555 - 59 42 69 G A 134759501 3218 55 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTTTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884113 131884114 131884114 upstr_intron -15 -0.202898550724638 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTTTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 93 59 1 0.953287783145253 0.976643891572627 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0139106288980734 -0.0431534310563088 NA 0.991265292651744 NA -0.0146214010791177 NA FALSE NA 0.122 1.166 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 5/7 rs375788641 1 NA A:0 A:0.0001 AGA G,A 8.236e-06 9:131884114 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant -0.159714 0.26613 0.02726 0.078448 0.46176259605872 0.0463572 0.00360424731766106 FALSE 4.2374e-06 ENSE00001095406_012 ENSE00001095406 012 9 134759386 134759555 - 59 42 69 G A 134759503 3219 53 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTTTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884115 131884116 131884116 upstr_intron -17 -0.231884057971014 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTTTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 128 280 1 1 1 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0139106288980734 0.00355878579843782 NA 0.991265292651744 NA 0.0087347073482556 NA FALSE NA 0.004 0.035 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 5/7 1 NA AGA G,A 8.236e-06 9:131884116 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant -0.225891 0.1767 0.03509 0.078448 0.415471820807289 0.0463572 0.00360424731766106 FALSE 8.49401e-06 ENSE00001095406_014 ENSE00001095406 014 9 134759386 134759555 - 59 42 69 G T 134759506 3221 50 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCATTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884118 131884119 131884119 upstr_intron -20 -0.27536231884058 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCATTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 246 325 0.997463287610526 1 0.998731643805263 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0113739165085995 0.00355878579843782 NA 0.991265292651744 NA 0.00746635115351868 NA FALSE NA 0 -1.325 rs76878370 intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 5/7 rs76878370 1 T:0.0022 T:0 T:0 NA T:0.0109 T:0 T:0 AGG G,T 0.0005271 9:131884119 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant -0.411344 0.1755 0.0451 0.078448 0.419533974776719 0.0463572 0.00360424731766106 FALSE 0.000411304 ENSE00001095406_019 ENSE00001095406 019 9 134759386 134759555 - 59 42 69 G C 134759520 3226 36 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACGGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884132 131884133 131884133 upstr_intron -34 -0.478260869565217 ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACGGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 878 44 0.99533409026503 1 0.997667045132515 NA NA 0.986089371101927 0.996441214201562 NA NA 0.00924471916310321 0.00355878579843782 NA 0.991265292651744 NA 0.00640175248077052 NA FALSE NA 0 -0.137 NA NA NA MED27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:131884133 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant -0.273695 0.26812 0.03235 0.078448 0.605757422531938 0.0463572 0.00360424731766106 FALSE 4.55191e-06 ENSE00001095406_021 ENSE00001095406 021 9 134759386 134759555 - 59 42 69 C T 134759532 3228 24 ACAATATTATTTCTTGAAGTCCCAAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884144 131884145 131884145 upstr_intron -46 -0.652173913043478 ACAATATTATTTCTTGAAGTCCCAAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 52 463 1 1 1 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0139106288980734 0.00355878579843782 NA 0.991265292651744 NA 0.0087347073482556 NA FALSE NA 0 -1.751 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 5/7 rs377327841 1 NA T:0.0007 T:0 TCG C,T 0.0001071 9:131884145 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant -0.084044 0.05291 0.00287 0.078448 0.73103741647019 0.0463572 0.00360424731766106 FALSE 0.000137537 ENSE00001095406_023 ENSE00001095406 023 9 134759386 134759555 - 59 42 69 G C 134759533 3230 23 ACAATATTATTTCTTGAAGTCCGGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884145 131884146 131884146 upstr_intron -47 -0.666666666666667 ACAATATTATTTCTTGAAGTCCGGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 65 89 1 1 1 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0139106288980734 0.00355878579843782 NA 0.991265292651744 NA 0.0087347073482556 NA FALSE NA 0 -2.26 NA NA NA MED27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:131884146 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant -0.437462 0.1245 0.00547 0.078448 0.524567746640437 0.0463572 0.00360424731766106 FALSE 4.91995e-06 ENSE00001095406_024 ENSE00001095406 024 9 134759386 134759555 - 59 42 69 T A 134759538 3231 18 ACAATATTATTTCTTGATGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG 131883998 131884168 131884150 131884151 131884151 upstr_intron -52 -0.739130434782609 ACAATATTATTTCTTGATGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG ACAATATTATTTCTTGAAGTCCCGAATTCTAAGACCGATGCTGATGATCCTTCTCTCCTTTCCCCTCAGCTTGATATATGGTCCAAATCCAACTATCAAGTATTCCAGAAGGTAAGTTTTACTTTTTGCTTCTTACTCAAGCGGCATTAGGAAAACGTGAATGCTTTGAG mutant NA NA NA NA NA 329 173 0.99987484682688 1 0.99993742341344 NA NA 0.986089371101927 0.996441214201562 NA NA 0.0137854757249535 0.00355878579843782 NA 0.991265292651744 NA 0.00867213076169565 NA FALSE NA 0 0.283 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 5/7 1 NA CTT T,A 8.237e-06 9:131884151 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001095406 intron_variant 0.333478 0.19173 0.01806 0.078448 0.736412238750042 0.0463572 0.00360424731766106 FALSE 9.91699e-06 ENSE00001095752_000 ENSE00001095752 000 10 43695588 43695757 - 42 75 53 NA NA NA NA NA GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT 43200139 43200309 NA NA NA NA NA NA GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT natural 57 22 0.965695467260728 0.992567267838081 0.979131367549405 1256 1504 0.94160353896307 0.99610976960481 0.96885665428394 0.965695467260728 0.992567267838081 0.94160353896307 0.99610976960481 0 0 0 0 0.979131367549405 0.96885665428394 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASGEF1A NA NA NA ENSG00000198915 ENSE00001095752 NA NA NA NA NA NA NA 0.910096302244158 TRUE NA ENSE00001095752_004 ENSE00001095752 004 10 43695588 43695757 - 42 75 53 G A 43695613 787 145 GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCTTGTGGCACCCCTGCCAGCCCTGTCT 43200139 43200309 43200164 43200165 43200165 downstr_intron 17 1.41463414634146 GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCTTGTGGCACCCCTGCCAGCCCTGTCT GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT mutant NA NA NA NA NA 133 35 0.974877124982149 0.925543886010176 0.950210505496162 0.965695467260728 0.992567267838081 0.94160353896307 0.99610976960481 NA NA 0.0332735860190795 -0.0705658835946341 0.979131367549405 0.96885665428394 NA -0.0186461487877773 NA FALSE NA 0.013 0.417 NA NA NA RASGEF1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:43200165 RASGEF1A HGNC Symbol protein_coding 72384 ENSG00000198915 ENSE00001095752 intron_variant -0.041243 0.27247 0.0247 0.091178 0.436674214638355 0.108334 0.910096302244158 TRUE NA ENSE00001095752_010 ENSE00001095752 010 10 43695588 43695757 - 42 75 53 G A 43695675 793 83 GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGATTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT 43200139 43200309 43200226 43200227 43200227 exon 30 0.4 GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGATTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT mutant NA NA NA NA NA 420 13 0.999901974776017 1 0.999950987388009 0.965695467260728 0.992567267838081 0.94160353896307 0.99610976960481 NA NA 0.0582984358129477 0.00389023039519021 0.979131367549405 0.96885665428394 NA 0.0310943331040689 NA FALSE NA 0.994 0.842 rs149633919 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1A HGNC 24246 ENST00000472864 5/5 rs149633919 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0006 AGT G,A 0.0003381 10:43200227 RASGEF1A HGNC Symbol protein_coding 72384 ENSG00000198915 ENSE00001095752 synonymous_variant 1.15132 0.91386 0.69021 0.706548 0.615117091087769 0 0.910096302244158 TRUE 0.000438339 ENSE00001095752_012 ENSE00001095752 012 10 43695588 43695757 - 42 75 53 G A 43695690 795 68 GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGTATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT 43200139 43200309 43200241 43200242 43200242 exon 15 0.2 GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGTATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT mutant NA NA NA NA NA 39 315 1 0.988478384295254 0.994239192147627 0.965695467260728 0.992567267838081 0.94160353896307 0.99610976960481 NA NA 0.0583964610369304 -0.00763138530955598 0.979131367549405 0.96885665428394 NA 0.0253825378636872 NA FALSE NA 1 1.101 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1A HGNC 24246 ENST00000472864 5/5 1 NA TGC G,A 8.246e-06 10:43200242 RASGEF1A HGNC Symbol protein_coding 72384 ENSG00000198915 ENSE00001095752 synonymous_variant 1.522151 0.92979 0.78088 0.706548 0.765907671530782 0 0.910096302244158 TRUE NA ENSE00001095752_014 ENSE00001095752 014 10 43695588 43695757 - 42 75 53 G A 43695716 797 42 GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATTTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT 43200139 43200309 43200267 43200268 43200268 upstr_intron -12 -0.207547169811321 GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATTTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT mutant 33 20 1 0.999440369841982 0.999720184920991 NA NA NA NA NA 0.965695467260728 0.992567267838081 0.94160353896307 0.99610976960481 0.0343045327392717 0.00687310200390079 NA NA 0.979131367549405 0.96885665428394 0.0205888173715862 NA NA NA FALSE 0 0.698 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1A HGNC 24246 ENST00000472864 4/4 1 NA AGA G,A 8.255e-06 10:43200268 RASGEF1A HGNC Symbol protein_coding 72384 ENSG00000198915 ENSE00001095752 intron_variant 0.487551 0.25924 0.13464 0.062308 0.570642716341777 0.0912856 0.910096302244158 TRUE NA ENSE00001095752_016 ENSE00001095752 016 10 43695588 43695757 - 42 75 53 G A 43695730 799 28 GTCCCTTCTCCAGGGGAAGCTTGTCACTTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT 43200139 43200309 43200281 43200282 43200282 upstr_intron -26 -0.471698113207547 GTCCCTTCTCCAGGGGAAGCTTGTCACTTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT GTCCCTTCTCCAGGGGAAGCTTGTCACCTTCCCTTTGCTATCTTCCACCCCAGGACAGGGTCAGCAGCATTTACCCTGAGGACTTGATGCAGATCGTCAGCCACATGGACTCCTTGGACAACCACAGGGTAAGTGGGCCAAGGCCTGTGGCACCCCTGCCAGCCCTGTCT mutant NA NA NA NA NA 16 76 1 1 1 0.965695467260728 0.992567267838081 0.94160353896307 0.99610976960481 NA NA 0.0583964610369304 0.00389023039519021 0.979131367549405 0.96885665428394 NA 0.0311433457160603 NA FALSE NA 0 0.082 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1A HGNC 24246 ENST00000472864 4/4 1 NA AGG G,A 8.272e-06 10:43200282 RASGEF1A HGNC Symbol protein_coding 72384 ENSG00000198915 ENSE00001095752 intron_variant 0.230266 0.24637 0.02822 0.062308 0.626045846702924 0.0497681 0.910096302244158 TRUE NA ENSE00001096482_000 ENSE00001096482 000 14 20916218 20916387 - 47 66 57 NA NA NA NA NA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 NA NA NA NA NA NA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA natural NA NA NA NA NA 488 521 0.869053549352709 0.987265720519144 0.928159634935926 NA NA 0.869053549352709 0.987265720519144 NA NA 0 0 NA 0.928159634935926 NA 0 NA FALSE NA NA NA NA NA NA OSGEP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OSGEP NA NA NA ENSG00000092094 ENSE00001096482 NA NA NA NA NA NA NA 1.79721398649986e-05 FALSE NA ENSE00001096482_002 ENSE00001096482 002 14 20916218 20916387 - 47 66 57 G A 20916242 48 146 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGATAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448082 20448083 20448083 downstr_intron 23 1.5 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGATAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant NA NA NA NA NA 254 103 1 1 1 NA NA 0.869053549352709 0.987265720519144 NA NA 0.130946450647291 0.0127342794808564 NA 0.928159634935926 NA 0.0718403650640739 NA FALSE NA 0 0.067 rs150817988 downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 rs150817988 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 TGT G,A 0.0001071 14:20448083 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 non_coding_transcript_exon_variant 0.634141 0.14709 0.0335 0.295142 0.584574896834621 0.163531 1.79721398649986e-05 FALSE 0.000105588 ENSE00001096482_003 ENSE00001096482 003 14 20916218 20916387 - 47 66 57 T C 20916249 49 139 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAGCTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448089 20448090 20448090 downstr_intron 16 1.34782608695652 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAGCTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant NA NA NA NA NA 32 98 1 1 1 NA NA 0.869053549352709 0.987265720519144 NA NA 0.130946450647291 0.0127342794808564 NA 0.928159634935926 NA 0.0718403650640739 NA FALSE NA 0 -0.687 rs2275008 downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 rs2275008 1 C:0.2448 C:0.3752 C:0.2291 NA C:0.0972 C:0.3191 C:0.1554 C:0.3339 C:0.294 GTT C,C 0.258 14:20448090 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 non_coding_transcript_exon_variant 0.737692 0.11517 0.0012 0.295142 0.620665316438308 0.163602 1.79721398649986e-05 FALSE 0.257007 ENSE00001096482_007 ENSE00001096482 007 14 20916218 20916387 - 47 66 57 C T 20916300 53 88 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCAAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448140 20448141 20448141 exon 31 0.46969696969697 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCAAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant NA NA NA NA NA 279 313 0.999450300982061 1 0.99972515049103 NA NA 0.869053549352709 0.987265720519144 NA NA 0.130396751629352 0.0127342794808564 NA 0.928159634935926 NA 0.0715655155551043 NA FALSE NA 0.999 3.669 rs140366254 downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 rs140366254 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0018 T:0 TCG C,T 0.000173 14:20448141 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 missense_variant 3.66388 0.9751 0.93396 0.706548 0.995692121622766 0 1.79721398649986e-05 FALSE 0.000162454 ENSE00001096482_010 ENSE00001096482 010 14 20916218 20916387 - 47 66 57 G A 20916318 56 70 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATTGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448158 20448159 20448159 exon 13 0.196969696969697 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATTGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant NA NA NA NA NA 135 92 1 1 1 NA NA 0.869053549352709 0.987265720519144 NA NA 0.130946450647291 0.0127342794808564 NA 0.928159634935926 NA 0.0718403650640739 NA FALSE NA 1 3.504 . downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 COSM954245 1 NA CGA G,A 8.236e-05 14:20448159 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 missense_variant 6.785951 0.96645 0.9088 0.706548 0.999007196912303 0 1.79721398649986e-05 FALSE 0.000117788 ENSE00001096482_011 ENSE00001096482 011 14 20916218 20916387 - 47 66 57 T C 20916320 57 68 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCGTCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448160 20448161 20448161 exon 11 0.166666666666667 TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCGTCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant 16 21 0.85 0.963620546855754 0.906810273427877 585 381 0.986052271837079 1 0.99302613591854 NA NA 0.869053549352709 0.987265720519144 NA NA 0.116998722484371 0.0127342794808564 NA 0.928159634935926 NA 0.0648665009826135 NA FALSE NA 1 3.708 rs145686222 downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 rs145686222 1 NA C:0 C:0.0001 ATG T,C 8.236e-06 14:20448161 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 missense_variant 0.693663 0.97908 0.9611 0.706548 0.875288632242336 0 1.79721398649986e-05 FALSE 2.03087e-05 ENSE00001096482_013 ENSE00001096482 013 14 20916218 20916387 - 47 66 57 A T 20916356 59 32 TCGTGTAATCCCAAAACCATGATTTGTTGATACTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448196 20448197 20448197 upstr_intron -26 -0.43859649122807 TCGTGTAATCCCAAAACCATGATTTGTTGATACTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant NA NA NA NA NA 45 162 1 0.980984708750423 0.990492354375212 NA NA 0.869053549352709 0.987265720519144 NA NA 0.130946450647291 -0.00628101176872031 NA 0.928159634935926 NA 0.0623327194392856 NA FALSE NA 0.023 1.372 . downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 1 NA GAA A,T 8.236e-06 14:20448197 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 intron_variant -0.26458 0.15385 0.08233 0.099367 0.663447646418667 0.0485915 1.79721398649986e-05 FALSE NA ENSE00001096482_015 ENSE00001096482 015 14 20916218 20916387 - 47 66 57 C G 20916362 61 26 TCGTGTAATCCCAAAACCATGATTTCTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448202 20448203 20448203 upstr_intron -32 -0.543859649122807 TCGTGTAATCCCAAAACCATGATTTCTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant NA NA NA NA NA 67 277 1 0.992881620134821 0.99644081006741 NA NA 0.869053549352709 0.987265720519144 NA NA 0.130946450647291 0.00561589961567688 NA 0.928159634935926 NA 0.0682811751314842 NA FALSE NA 0 -0.542 . downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 1 NA ACA C,G 8.236e-06 14:20448203 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 intron_variant 0.077867 0.1608 0.1042 0.099367 0.585755411789735 0.0485915 1.79721398649986e-05 FALSE 4.0778e-06 ENSE00001096482_017 ENSE00001096482 017 14 20916218 20916387 - 47 66 57 A G 20916365 63 23 TCGTGTAATCCCAAAACCATGACTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448205 20448206 20448206 upstr_intron -35 -0.596491228070175 TCGTGTAATCCCAAAACCATGACTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant NA NA NA NA NA 90 43 0.973424814998085 1 0.986712407499043 NA NA 0.869053549352709 0.987265720519144 NA NA 0.104371265645377 0.0127342794808564 NA 0.928159634935926 NA 0.0585527725631166 NA FALSE NA 0 0.542 . downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 1 NA AAT A,G 8.236e-06 14:20448206 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 intron_variant 0.305611 0.20079 0.26129 0.099367 0.71099155761504 0.0855031 1.79721398649986e-05 FALSE NA ENSE00001096482_018 ENSE00001096482 018 14 20916218 20916387 - 47 66 57 C T 20916367 64 21 TCGTGTAATCCCAAAACCATAATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 20448207 20448208 20448208 upstr_intron -37 -0.631578947368421 TCGTGTAATCCCAAAACCATAATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA mutant NA NA NA NA NA 406 19 1 1 1 NA NA 0.869053549352709 0.987265720519144 NA NA 0.130946450647291 0.0127342794808564 NA 0.928159634935926 NA 0.0718403650640739 NA FALSE NA 0 -0.589 . downstream_gene_variant MODIFIER OSGEP HGNC 18028 ENST00000488532 1 NA TCA C,T 8.236e-06 14:20448208 OSGEP HGNC Symbol protein_coding 8694 ENSG00000092094 ENSE00001096482 intron_variant 0.25621 0.10571 0.00258 0.099367 0.804962285322001 0.0485915 1.79721398649986e-05 FALSE 8.16333e-06 ENSE00001096482_BRK ENSE00001096482 BRK 14 20916218 20916387 - 47 66 57 A,G; T,T NA NA NA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTTTGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGCCAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA 20448058 20448228 NA NA NA NA NA NA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTTTGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGCCAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA TCGTGTAATCCCAAAACCATGATTTGTTGATTCTTTTGTTTTTCCCTTTAATTGTAGGATGTAGCCCATCGGATGCTGGCCACAGGCGAGTGTACTCCTGAGGATCTGTGTTTCTCCCTGCAGGTAATGCAGTAAAAAACTGGGACAGAAAGTTGGGGCTGAAGGTTTTA control 12 18 0 0 0 NA NA NA NA NA NA NA 0.869053549352709 0.987265720519144 NA NA NA NA NA 0.928159634935926 NA NA NA NA NA NA NA NA NA NA OSGEP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OSGEP NA NA NA ENSG00000092094 ENSE00001096482 NA NA NA NA NA NA NA 1.79721398649986e-05 FALSE NA ENSE00001096585_000 ENSE00001096585 000 14 21463995 21464164 + 65 51 54 NA NA NA NA NA AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 NA NA NA NA NA NA AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG natural NA NA NA NA NA 177 578 1 0.999726282263541 0.99986314113177 NA NA 1 0.999726282263541 NA NA 0 0 NA 0.99986314113177 NA 0 NA FALSE NA NA NA NA NA NA METTL17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL17 NA NA NA ENSG00000165792 ENSE00003483715 NA NA NA NA NA NA NA 5.78059529660905e-08 FALSE NA ENSE00001096585_BRK ENSE00001096585 BRK 14 21463995 21464164 + 65 51 54 A,G; T,T NA NA NA AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCTTGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGCCGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 NA NA NA NA NA NA AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCTTGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGCCGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG control 68 178 0 0 0 1061 620 0.00743291682729802 0.0924412124772299 0.0499370646522639 NA NA 1 0.999726282263541 NA NA -0.992567083172702 -0.907285069786311 NA 0.99986314113177 NA -0.949926076479507 NA TRUE NA NA NA NA NA NA METTL17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL17 NA NA NA ENSG00000165792 ENSE00003483715 NA NA NA NA NA NA NA 5.78059529660905e-08 FALSE NA ENSE00001096598_000 ENSE00001096598 000 14 21463268 21463437 + 56 69 45 NA NA NA NA NA CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 NA NA NA NA NA NA CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT natural 19 20 0.99905244605719 1 0.999526223028595 3174 2667 0.991590376667752 0.990463077606274 0.991026727137013 0.99905244605719 1 0.991590376667752 0.990463077606274 0 0 0 0 0.999526223028595 0.991026727137013 0 0 0 FALSE FALSE NA NA NA NA NA METTL17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL17 NA NA NA ENSG00000165792 ENSE00003669192 NA NA NA NA NA NA NA 5.78059529660905e-08 FALSE NA ENSE00001096598_001 ENSE00001096598 001 14 21463268 21463437 + 56 69 45 T C 21463279 66 12 CATTTATACTTCCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995119 20995120 20995120 upstr_intron -45 -0.785714285714286 CATTTATACTTCCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 737 1215 0.998765022065641 1 0.99938251103282 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00717464539788948 0.00953692239372572 0.999526223028595 0.991026727137013 NA 0.0083557838958076 NA FALSE NA 0.005 0.983 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 9/12 rs529927656 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTC T,C 1.647e-05 14:20995120 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 3_prime_UTR_variant 0.357669 0.23583 0.10176 0.359288 0.740981330736246 0.0960606 5.78059529660905e-08 FALSE 1.62763e-05 ENSE00001096598_002 ENSE00001096598 002 14 21463268 21463437 + 56 69 45 C T 21463280 67 13 CATTTATACTTTTGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995120 20995121 20995121 upstr_intron -44 -0.767857142857143 CATTTATACTTTTGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 462 788 0.995584483808884 0.996993729375564 0.996289106592224 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00399410714113202 0.0065306517692898 0.999526223028595 0.991026727137013 NA 0.00526237945521091 NA FALSE NA 0 -0.121 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:20995121 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 3_prime_UTR_variant 0.5154 0.22778 0.0636 0.359288 0.697032936738664 0.0960606 5.78059529660905e-08 FALSE 8.14094e-06 ENSE00001096598_003 ENSE00001096598 003 14 21463268 21463437 + 56 69 45 C G 21463280 68 13 CATTTATACTTTGGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995120 20995121 20995121 upstr_intron -44 -0.767857142857143 CATTTATACTTTGGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 813 173 0.993119662419872 0.996170440004089 0.994645051211981 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00152928575212097 0.00570736239781444 0.999526223028595 0.991026727137013 NA 0.0036183240749677 NA FALSE NA 0 -0.121 NA NA NA METTL17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL17 NA NA NA ENSG00000165792 ENSE00003669192 3_prime_UTR_variant 0.324565 0.30273 0.18102 0.359288 0.706818946512524 0.0960606 5.78059529660905e-08 FALSE 8.14094e-06 ENSE00001096598_006 ENSE00001096598 006 14 21463268 21463437 + 56 69 45 A G 21463291 71 24 CATTTATACTTTCGTGTAATTCAGGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995131 20995132 20995132 upstr_intron -33 -0.571428571428571 CATTTATACTTTCGTGTAATTCAGGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 1852 158 0.997887066391551 0.916649345727102 0.957268206059327 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00629668972379993 -0.0738137318791724 0.999526223028595 0.991026727137013 NA -0.0337585210776862 NA FALSE NA 0 0.146 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 9/12 1 NA AAG A,G 8.236e-06 14:20995132 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 3_prime_UTR_variant 0.192576 0.13434 0.00362 0.359288 0.643116275467324 0.0763529 5.78059529660905e-08 FALSE 4.06531e-06 ENSE00001096598_007 ENSE00001096598 007 14 21463268 21463437 + 56 69 45 G A 21463292 72 25 CATTTATACTTTCGTGTAATTCAAATCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995132 20995133 20995133 upstr_intron -32 -0.553571428571429 CATTTATACTTTCGTGTAATTCAAATCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 185 59 0.960929122434297 1 0.980464561217148 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA -0.0306612542334547 0.00953692239372572 0.999526223028595 0.991026727137013 NA -0.0105621659198645 NA FALSE NA 0 0.105 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 9/12 1 NA AGT G,A 8.236e-06 14:20995133 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 3_prime_UTR_variant 0.448038 0.2243 0.06458 0.359288 0.525954982837683 0.0763529 5.78059529660905e-08 FALSE 1.21945e-05 ENSE00001096598_008 ENSE00001096598 008 14 21463268 21463437 + 56 69 45 T G 21463296 73 29 CATTTATACTTTCGTGTAATTCAAGTCTGCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995136 20995137 20995137 upstr_intron -28 -0.482142857142857 CATTTATACTTTCGTGTAATTCAAGTCTGCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 912 747 1 0.999949037721159 0.99997451886058 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00840962333224848 0.00948596011488467 0.999526223028595 0.991026727137013 NA 0.00894779172356658 NA FALSE NA 0 0.093 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 9/12 1 NA TTC T,G 8.236e-06 14:20995137 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 3_prime_UTR_variant 0.421188 0.23569 0.12905 0.359288 0.669550688585515 0.0763529 5.78059529660905e-08 FALSE 4.06365e-06 ENSE00001096598_009 ENSE00001096598 009 14 21463268 21463437 + 56 69 45 T C 21463307 74 40 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTCCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995147 20995148 20995148 upstr_intron -17 -0.285714285714286 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTCCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 614 931 0.91404022700945 0.993361438732393 0.953700832870922 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA -0.0775501496583011 0.00289836112611908 0.999526223028595 0.991026727137013 NA -0.037325894266091 NA FALSE NA 0 0.137 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 9/12 1 NA TTC T,C 8.236e-06 14:20995148 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 3_prime_UTR_variant 0.088739 0.26606 0.22128 0.359288 0.460662064795775 0.170837 5.78059529660905e-08 FALSE 4.06385e-06 ENSE00001096598_010 ENSE00001096598 010 14 21463268 21463437 + 56 69 45 G A 21463335 75 68 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAAAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995175 20995176 20995176 exon 12 0.173913043478261 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAAAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 736 398 1 0.980005298925466 0.990002649462733 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00840962333224848 -0.010457778680808 0.999526223028595 0.991026727137013 NA -0.00102407767427976 NA FALSE NA 1 1.237 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/13 1 NA AGA G,A 8.236e-06 14:20995176 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 synonymous_variant 1.393135 0.98386 0.87479 0.719381 0.799603364426009 0 5.78059529660905e-08 FALSE 4.06095e-06 ENSE00001096598_011 ENSE00001096598 011 14 21463268 21463437 + 56 69 45 T C 21463362 76 95 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTCCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995202 20995203 20995203 exon -31 0.565217391304348 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTCCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 1333 685 0.982470719564503 0.999537961295329 0.991004340429916 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA -0.00911965710324869 0.00907488368905507 0.999526223028595 0.991026727137013 NA -2.23867070968109e-05 NA FALSE NA 0.992 0.024 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/13 1 NA TTC T,C 1.647e-05 14:20995203 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 synonymous_variant 0.007134 0.96815 0.72745 0.719381 0.792477352892122 0 5.78059529660905e-08 FALSE 8.12183e-06 ENSE00001096598_012 ENSE00001096598 012 14 21463268 21463437 + 56 69 45 A C 21463366 77 99 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCCTGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995206 20995207 20995207 exon -27 0.623188405797101 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCCTGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 195 195 0.999788766027371 0.99701776878736 0.998403267407365 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00819838935961903 0.00655469118108531 0.999526223028595 0.991026727137013 NA 0.00737654027035217 NA FALSE NA 1 5.906 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/13 1 NA CAT A,C 8.236e-06 14:20995207 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 missense_variant 1.331889 0.98815 0.98019 0.719381 0.864335819665428 0 5.78059529660905e-08 FALSE 4.06098e-06 ENSE00001096598_013 ENSE00001096598 013 14 21463268 21463437 + 56 69 45 T G 21463367 78 100 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCAGGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995207 20995208 20995208 exon -26 0.63768115942029 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCAGGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 1235 2271 0.999063212946456 0.94234249755137 0.970702855248913 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00747283627870399 -0.0481205800549045 0.999526223028595 0.991026727137013 NA -0.0203238718881003 NA FALSE NA 1 5.133 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/13 1 NA ATG T,G 8.236e-06 14:20995208 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 missense_variant 4.707397 0.98789 0.97167 0.719381 0.979391644936136 0 5.78059529660905e-08 FALSE 4.06095e-06 ENSE00001096598_016 ENSE00001096598 016 14 21463268 21463437 + 56 69 45 T C 21463385 81 118 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGCCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995225 20995226 20995226 exon -8 0.898550724637681 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGCCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 270 856 0.9896224059509 1 0.99481120297545 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA -0.00196797071685173 0.00953692239372572 0.999526223028595 0.991026727137013 NA 0.003784475838437 NA FALSE NA 1 4.675 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/13 1 NA GTC T,C 8.236e-06 14:20995226 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 missense_variant 5.712157 0.9875 0.98472 0.719381 0.998766859491814 0 5.78059529660905e-08 FALSE 4.06091e-06 ENSE00001096598_017 ENSE00001096598 017 14 21463268 21463437 + 56 69 45 C T 21463386 82 119 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTTCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995226 20995227 20995227 exon -7 0.91304347826087 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTTCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 77 288 1 0.999450463317323 0.999725231658661 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00840962333224848 0.00898738571104851 0.999526223028595 0.991026727137013 NA 0.0086985045216485 NA FALSE NA 0.995 0.114 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/13 rs566480136 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 TCC C,T 8.236e-05 14:20995227 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 synonymous_variant 2.048124 0.97802 0.89333 0.719381 0.815403664158181 0 5.78059529660905e-08 FALSE 3.65485e-05 ENSE00001096598_018 ENSE00001096598 018 14 21463268 21463437 + 56 69 45 G A 21463392 83 125 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAAGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995232 20995233 20995233 exon -1 1 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAAGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 70 47 1 1 1 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00840962333224848 0.00953692239372572 0.999526223028595 0.991026727137013 NA 0.0089732728629871 NA FALSE NA 0.155 -0.044 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:20995233 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 splice_region_variant 1.021046 0.96143 0.41198 0.719381 0.643873341357178 0 5.78059529660905e-08 FALSE 0.00157574 ENSE00001096598_019 ENSE00001096598 019 14 21463268 21463437 + 56 69 45 G C 21463392 84 125 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAACGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995232 20995233 20995233 exon -1 1 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAACGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 1885 842 0.97702642330502 0.999682985018324 0.988354704161672 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA -0.0145639533627319 0.00921990741204948 0.999526223028595 0.991026727137013 NA -0.00267202297534119 NA FALSE NA 0.155 -0.044 NA NA NA METTL17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL17 NA NA NA ENSG00000165792 ENSE00003669192 missense_variant 1.165412 0.96268 0.47469 0.719381 0.959163561538297 0 5.78059529660905e-08 FALSE 4.06118e-06 ENSE00001096598_020 ENSE00001096598 020 14 21463268 21463437 + 56 69 45 A G 21463395 85 128 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTGAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995235 20995236 20995236 downstr_intron 3 1.06818181818182 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTGAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 318 161 1 1 1 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00840962333224848 0.00953692239372572 0.999526223028595 0.991026727137013 NA 0.0089732728629871 NA FALSE NA 0.915 0.192 . splice_region_variant&intron_variant&NMD_transcript_variant LOW METTL17 HGNC 19280 ENST00000555533 10/12 1 NA TAA A,G 8.236e-06 14:20995236 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 splice_region_variant 0.649843 0.54201 0.47901 0.156188 0.725165304385996 0.27224 5.78059529660905e-08 FALSE NA ENSE00001096598_022 ENSE00001096598 022 14 21463268 21463437 + 56 69 45 C T 21463410 87 143 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCTTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995250 20995251 20995251 downstr_intron 18 1.40909090909091 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCTTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 905 562 0.998581734903682 0.999718486685344 0.999150110794513 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00699135823593011 0.00925540907906997 0.999526223028595 0.991026727137013 NA 0.00812338365750004 NA FALSE NA 0 -0.114 rs145907219 intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 rs145907219 1 T:0.0018 T:0.0068 T:0 NA T:0 T:0 T:0 T:0.0043 T:0.0001 CCT C,T 0.0003789 14:20995251 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 intron_variant 0.606236 0.15635 0.05582 0.093477 0.683441547000584 0.0522712 5.78059529660905e-08 FALSE 0.000304668 ENSE00001096598_023 ENSE00001096598 023 14 21463268 21463437 + 56 69 45 A C 21463413 88 146 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCCCTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995253 20995254 20995254 downstr_intron 21 1.47727272727273 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCCCTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 259 514 0.997267082710719 0.998042619445159 0.997654851077939 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00567670604296755 0.00757954183888476 0.999526223028595 0.991026727137013 NA 0.00662812394092616 NA FALSE NA 0 -1.397 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 rs375105673 1 NA C:0.0005 C:0 CAC A,C 4.118e-05 14:20995254 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 intron_variant 0.497206 0.13676 0.00904 0.093477 0.820781057066023 0.0522712 5.78059529660905e-08 FALSE 3.65753e-05 ENSE00001096598_024 ENSE00001096598 024 14 21463268 21463437 + 56 69 45 C T 21463414 89 147 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCATTCCCCCACCCATATGGCACCAAT 20995108 20995278 20995254 20995255 20995255 downstr_intron 22 1.5 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCATTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 225 377 1 0.998162009766573 0.999081004883286 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA 0.00840962333224848 0.0076989321602986 0.999526223028595 0.991026727137013 NA 0.00805427774627354 NA FALSE NA 0 -0.866 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 1 NA ACT C,T 8.236e-06 14:20995255 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 intron_variant 0.511703 0.07541 0.02119 0.093477 0.756853034181819 0.0522712 5.78059529660905e-08 FALSE 4.06316e-06 ENSE00001096598_025 ENSE00001096598 025 14 21463268 21463437 + 56 69 45 C A 21463420 90 153 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCAACCCATATGGCACCAAT 20995108 20995278 20995260 20995261 20995261 downstr_intron 28 1.63636363636364 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCAACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 322 222 0.795317282227161 0.83617865911977 0.815747970673465 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA -0.196273094440591 -0.154284418486504 0.999526223028595 0.991026727137013 NA -0.175278756463547 NA FALSE NA 0 -1.49 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 1 NA CCA C,A 2.471e-05 14:20995261 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 intron_variant 0.806548 0.20021 0.02919 0.093477 0.806406887324869 0.0514806 5.78059529660905e-08 FALSE 1.22084e-05 ENSE00001096598_026 ENSE00001096598 026 14 21463268 21463437 + 56 69 45 C T 21463422 91 155 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCATCCATATGGCACCAAT 20995108 20995278 20995262 20995263 20995263 downstr_intron 30 1.68181818181818 CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCATCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT mutant NA NA NA NA NA 572 432 0.903622618943972 1 0.951811309471986 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA -0.0879677577237795 0.00953692239372572 0.999526223028595 0.991026727137013 NA -0.0392154176650269 NA FALSE NA 0 -0.676 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 rs371822701 1 NA A:0 A:0.0001 ACC C,T 8.236e-06 14:20995263 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003669192 intron_variant 1.048143 0.34845 0.16128 0.093477 0.745719379167193 0.673987 5.78059529660905e-08 FALSE 8.14166e-06 ENSE00001096598_BRK ENSE00001096598 BRK 14 21463268 21463437 + 56 69 45 A,G; T,T NA NA NA CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACTTGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGCCAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT 20995108 20995278 NA NA NA NA NA NA CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACTTGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGCCAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT CATTTATACTTTCGTGTAATTCAAGTCTTCTGCATATTTTCCCCTTTTGTGAACAGGTACTGGTGGAGAATGGAACAAAAGCTGGGCACAGCCTTCTCATGGATGCCAGGGATCTGGTCCTTAAGGTAAGGCTTCTTCTTCCCTCACTCCCCCACCCATATGGCACCAAT control NA NA NA NA NA 180 510 0 0 0 0.99905244605719 1 0.991590376667752 0.990463077606274 NA NA -0.991590376667752 -0.990463077606274 0.999526223028595 0.991026727137013 NA -0.991026727137013 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL17 NA NA NA ENSG00000165792 ENSE00003669192 NA NA NA NA NA NA NA 5.78059529660905e-08 FALSE NA ENSE00001096614_000 ENSE00001096614 000 14 21468210 21468379 + 65 51 54 NA NA NA NA NA AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 NA NA NA NA NA NA GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT natural 90 123 0.986130741928194 0.986589185783725 0.986359963855959 3180 2305 0.906853148994007 0.970554209103632 0.938703679048819 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 0 0 0 0 0.986359963855959 0.938703679048819 0 0 0 FALSE FALSE NA NA NA NA NA SLC39A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC39A2 NA NA NA ENSG00000165794 ENSE00001096614 NA NA NA NA NA NA NA 0.000671706229021376 FALSE NA ENSE00001096614_001 ENSE00001096614 001 14 21468210 21468379 + 65 51 54 A G 21468248 117 39 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGACGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000088 21000089 21000089 upstr_intron -27 -0.4 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACGTCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 111 632 0.981752077355949 0.975621720788381 0.978686899072165 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.074898928361942 0.00506751168474895 0.986359963855959 0.938703679048819 NA 0.0399832200233455 NA FALSE NA 0 -2.812 . intron_variant MODIFIER SLC39A2 HGNC 17127 ENST00000298681 2/3 rs369722984 1 NA G:0 G:0.0001 CAT A,G 8.237e-06 14:21000089 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 intron_variant -1.03254 0.06813 0.00492 0.053691 0.323849390642481 0.0881223 0.000671706229021376 FALSE NA ENSE00001096614_002 ENSE00001096614 002 14 21468210 21468379 + 65 51 54 G T 21468262 118 53 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGAAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000102 21000103 21000103 upstr_intron -13 -0.184615384615385 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTTCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 952 306 1 1 1 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.0931468510059933 0.0294457908963677 0.986359963855959 0.938703679048819 NA 0.0612963209511805 NA FALSE NA 0.001 0.779 . intron_variant MODIFIER SLC39A2 HGNC 17127 ENST00000298681 2/3 1 NA TGC G,T 8.237e-06 14:21000103 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 intron_variant 0.084928 0.10737 0.00091 0.053691 0.673176029481734 0.16365 0.000671706229021376 FALSE NA ENSE00001096614_003 ENSE00001096614 003 14 21468210 21468379 + 65 51 54 C T 21468285 119 76 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTACTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000125 21000126 21000126 exon 11 0.215686274509804 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGTAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 129 369 1 0.982192889058004 0.991096444529002 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.0931468510059933 0.0116386799543712 0.986359963855959 0.938703679048819 NA 0.0523927654801822 NA FALSE NA 0 -0.084 . missense_variant MODERATE SLC39A2 HGNC 17127 ENST00000298681 3/4 1 tolerated_low_confidence(0.27) benign(0.167) NA GCA C,T 8.236e-06 14:21000126 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 missense_variant 0.178296 0.19975 0.01765 0.554377 0.758607816167238 0 0.000671706229021376 FALSE 4.08767e-06 ENSE00001096614_004 ENSE00001096614 004 14 21468210 21468379 + 65 51 54 C A 21468300 120 91 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCACCAGAATAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000140 21000141 21000141 exon -26 0.509803921568627 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTATTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 366 465 0.978572854280139 0.994408850406351 0.986490852343245 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.0717197052861323 0.0238546413027186 0.986359963855959 0.938703679048819 NA 0.0477871732944254 NA FALSE NA 0.019 0.324 . missense_variant MODERATE SLC39A2 HGNC 17127 ENST00000298681 3/4 1 deleterious(0.04) possibly_damaging(0.736) NA TCT C,A 8.236e-06 14:21000141 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 missense_variant 2.638673 0.30325 0.11883 0.554377 0.988546483676913 0 0.000671706229021376 FALSE 4.08677e-06 ENSE00001096614_006 ENSE00001096614 006 14 21468210 21468379 + 65 51 54 G A 21468306 122 97 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCATCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000146 21000147 21000147 exon -20 0.627450980392157 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGATGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 1301 3959 0.994328776719526 0.897485303800227 0.945907040259876 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.087475627725519 -0.0730689053034057 0.986359963855959 0.938703679048819 NA 0.00720336121105664 NA FALSE NA 0 0.261 . missense_variant MODERATE SLC39A2 HGNC 17127 ENST00000298681 3/4 1 tolerated(0.72) benign(0.003) NA GGT G,A 1.647e-05 14:21000147 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 missense_variant -1.054821 0.12257 0.00252 0.554377 0.569458186915539 0 0.000671706229021376 FALSE 2.04611e-05 ENSE00001096614_007 ENSE00001096614 007 14 21468210 21468379 + 65 51 54 T C 21468310 123 101 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCGTCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000150 21000151 21000151 exon -16 0.705882352941177 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGACGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 69 29 1 1 1 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.0931468510059933 0.0294457908963677 0.986359963855959 0.938703679048819 NA 0.0612963209511805 NA FALSE NA 0 0.111 . synonymous_variant LOW SLC39A2 HGNC 17127 ENST00000298681 3/4 1 NA ATG T,C 1.647e-05 14:21000151 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 synonymous_variant -0.849167 0.23615 0.07935 0.428477 0.824206927586061 0 0.000671706229021376 FALSE 8.1886e-06 ENSE00001096614_009 ENSE00001096614 009 14 21468210 21468379 + 65 51 54 T G 21468325 125 116 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACCTGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000165 21000166 21000166 exon -1 1 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCAGGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 17 943 1 0.994764945771406 0.997382472885703 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.0931468510059933 0.0242107366677732 0.986359963855959 0.938703679048819 NA 0.0586787938368832 NA FALSE NA 0.001 -1.242 NA NA NA SLC39A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:21000166 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 missense_variant -1.054149 0.14329 0.00341 0.428477 0.806739035900589 0 0.000671706229021376 FALSE 2.4591e-05 ENSE00001096614_010 ENSE00001096614 010 14 21468210 21468379 + 65 51 54 T C 21468331 126 122 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAGGTGCTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000171 21000172 21000172 downstr_intron 6 1.11320754716981 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGCACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 260 499 0.99525083341458 0.85054921367528 0.92290002354493 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.0883976844205736 -0.120004995428352 0.986359963855959 0.938703679048819 NA -0.0158036555038893 NA FALSE NA 0.929 1.239 . splice_region_variant&intron_variant LOW SLC39A2 HGNC 17127 ENST00000298681 3/3 1 NA GTA T,C 8.236e-06 14:21000172 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 splice_region_variant 0.890998 0.95951 0.73924 0.053691 0.869371301879825 0.305636 0.000671706229021376 FALSE NA ENSE00001096614_011 ENSE00001096614 011 14 21468210 21468379 + 65 51 54 C T 21468334 127 125 AGGCCTCTCTGGTTCTCCTCACTCTCCAGATAGGGGATGGTGGGAAGTACTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000174 21000175 21000175 downstr_intron 9 1.16981132075472 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACTTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 84 1129 0.803096283792055 0.999859892918779 0.901478088355417 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA -0.103756865201952 0.0293056838151471 0.986359963855959 0.938703679048819 NA -0.0372255906934024 NA FALSE NA 0 0.647 rs186378155 intron_variant MODIFIER SLC39A2 HGNC 17127 ENST00000298681 3/3 rs186378155 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 CCT C,T 1.647e-05 14:21000175 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 intron_variant 1.065725 0.23803 0.03944 0.053691 0.740102396139842 0.153709 0.000671706229021376 FALSE 8.24797e-06 ENSE00001096614_014 ENSE00001096614 014 14 21468210 21468379 + 65 51 54 A G 21468357 130 148 AGGCCTCTCTGGTTCTCCTCACCCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000197 21000198 21000198 downstr_intron 32 1.60377358490566 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGGGTGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant 12 36 1 1 1 306 694 1 0.98489144072437 0.992445720362185 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 0.0138692580718059 0.0134108142162753 0.0931468510059933 0.0143372316207379 0.986359963855959 0.938703679048819 0.0136400361440406 0.0537420413133656 0.0401020051693249 FALSE FALSE 0 -0.847 . intron_variant MODIFIER SLC39A2 HGNC 17127 ENST00000298681 3/3 1 NA GAG A,G 8.237e-06 14:21000198 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 intron_variant -0.123463 0.1231 0.00399 0.053691 0.63851203370493 0.102816 0.000671706229021376 FALSE 2.60756e-05 ENSE00001096614_015 ENSE00001096614 015 14 21468210 21468379 + 65 51 54 T G 21468359 131 150 AGGCCTCTCTGGTTCTCCTCCCTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000199 21000200 21000200 downstr_intron 34 1.64150943396226 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGGGAGGAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant 30 13 0.973340628344062 0.976542816196253 0.974941722270158 32 11 0.993846301063959 0.99646350907926 0.995154905071609 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 -0.0127901135841316 -0.010046369587472 0.0869931520699521 0.0259092999756274 0.986359963855959 0.938703679048819 -0.0114182415858018 0.0564512260227897 0.0678694676085915 FALSE FALSE 0 -0.807 . intron_variant MODIFIER SLC39A2 HGNC 17127 ENST00000298681 3/3 rs199584640 1 NA GTG T,G 8.237e-06 14:21000200 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 intron_variant 0.2767 0.17487 0.02251 0.053691 0.709147499607858 0.102816 0.000671706229021376 FALSE 4.35453e-06 ENSE00001096614_016 ENSE00001096614 016 14 21468210 21468379 + 65 51 54 G C 21468363 132 154 AGGCCTCTCTGGTTCTGCTCACTCTCCAGATAGGGGATGGTGGGAGGTACTTACATGAGCTGAATCAGCATCACCAGAAGAATTTCTCTCACTTGCTGATCTGTTCTAAGAAGAAAGCAGCAGAAATTAGATGTGGGATGGAGCAGCACAGCTTCCTGTGCTGTCCCTTC 21000050 21000220 21000203 21000204 21000204 downstr_intron 38 1.71698113207547 GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGCAGAACCAGAGAGGCCT GAAGGGACAGCACAGGAAGCTGTGCTGCTCCATCCCACATCTAATTTCTGCTGCTTTCTTCTTAGAACAGATCAGCAAGTGAGAGAAATTCTTCTGGTGATGCTGATTCAGCTCATGTAAGTACCTCCCACCATCCCCTATCTGGAGAGTGAGGAGAACCAGAGAGGCCT mutant NA NA NA NA NA 65 1213 0.970433762045397 0.998129071060178 0.984281416552787 0.986130741928194 0.986589185783725 0.906853148994007 0.970554209103632 NA NA 0.0635806130513901 0.0275748619565455 0.986359963855959 0.938703679048819 NA 0.0455777375039678 NA FALSE NA 0.001 0.584 . intron_variant MODIFIER SLC39A2 HGNC 17127 ENST00000298681 3/3 1 NA GGA G,C 3.295e-05 14:21000204 SLC39A2 HGNC Symbol protein_coding 2616 ENSG00000165794 ENSE00001096614 intron_variant -0.161193 0.20739 0.07586 0.053691 0.710839190830715 0.102816 0.000671706229021376 FALSE 3.98664e-05 ENSE00001097863_000 ENSE00001097863 000 15 93524551 93524720 + 44 93 33 NA NA NA NA NA CTGTTGCCATTTTATTCTATTCGTGTTGGCTTTTGTTCTTTTAGGAAATGGATATAGATGAAATTTTGCGGTTGGCTGAAACGAGAGAGAATGAAGTGTCAACAAGTGCAACAGATGAACTTCTATCACAGTTTAAGGTATGAAGATCTTTGTGGGAGAGAGTTCTCAGC 92981320 92981490 NA NA NA NA NA NA CTGTTGCCATTTTATTCTATTCGTGTTGGCTTTTGTTCTTTTAGGAAATGGATATAGATGAAATTTTGCGGTTGGCTGAAACGAGAGAGAATGAAGTGTCAACAAGTGCAACAGATGAACTTCTATCACAGTTTAAGGTATGAAGATCTTTGTGGGAGAGAGTTCTCAGC CTGTTGCCATTTTATTCTATTCGTGTTGGCTTTTGTTCTTTTAGGAAATGGATATAGATGAAATTTTGCGGTTGGCTGAAACGAGAGAGAATGAAGTGTCAACAAGTGCAACAGATGAACTTCTATCACAGTTTAAGGTATGAAGATCTTTGTGGGAGAGAGTTCTCAGC natural NA NA NA NA NA 2280 1323 0.998565280233486 0.994692860571472 0.996629070402479 NA NA 0.998565280233486 0.994692860571472 NA NA 0 0 NA 0.996629070402479 NA 0 NA FALSE NA NA NA NA NA NA CHD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHD2 NA NA NA ENSG00000173575 ENSE00001097863 NA NA NA NA NA NA NA 0.999999998845422 TRUE NA ENSE00001097863_010 ENSE00001097863 010 15 93524551 93524720 + 44 93 33 A C 93524693 2614 143 CTGTTGCCATTTTATTCTATTCGTGTTGGCTTTTGTTCTTTTAGGAAATGGATATAGATGAAATTTTGCGGTTGGCTGAAACGAGAGAGAATGAAGTGTCAACAAGTGCAACAGATGAACTTCTATCACAGTTTAAGGTATGCAGATCTTTGTGGGAGAGAGTTCTCAGC 92981320 92981490 92981462 92981463 92981463 downstr_intron 6 1.1875 CTGTTGCCATTTTATTCTATTCGTGTTGGCTTTTGTTCTTTTAGGAAATGGATATAGATGAAATTTTGCGGTTGGCTGAAACGAGAGAGAATGAAGTGTCAACAAGTGCAACAGATGAACTTCTATCACAGTTTAAGGTATGCAGATCTTTGTGGGAGAGAGTTCTCAGC CTGTTGCCATTTTATTCTATTCGTGTTGGCTTTTGTTCTTTTAGGAAATGGATATAGATGAAATTTTGCGGTTGGCTGAAACGAGAGAGAATGAAGTGTCAACAAGTGCAACAGATGAACTTCTATCACAGTTTAAGGTATGAAGATCTTTGTGGGAGAGAGTTCTCAGC mutant NA NA NA NA NA 21 225 1 1 1 NA NA 0.998565280233486 0.994692860571472 NA NA 0.00143471976651399 0.00530713942852812 NA 0.996629070402479 NA 0.00337092959752106 NA FALSE NA 0 0.257 . downstream_gene_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 1 NA GAA A,C 8.237e-06 15:92981463 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00001097863 splice_region_variant -0.484742 0.23457 0.15906 0.101703 0.523514614396358 0.0837591 0.999999998845422 TRUE 8.1694e-06 ENSE00001098415_000 ENSE00001098415 000 10 27024119 27024288 + 50 81 39 NA NA NA NA NA TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 NA NA NA NA NA NA TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG natural NA NA NA NA NA 727 130 0.991450159769235 0.998781488135475 0.995115823952355 NA NA 0.991450159769235 0.998781488135475 NA NA 0 0 NA 0.995115823952355 NA 0 NA FALSE NA NA NA NA NA NA PDSS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDSS1 NA NA NA ENSG00000148459 ENSE00003508335 NA NA NA NA NA NA NA 0.263151860027171 FALSE NA ENSE00001098415_001 ENSE00001098415 001 10 27024119 27024288 + 50 81 39 C A 27024129 630 11 TTTGTTGCTGACTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735199 26735200 26735200 upstr_intron -40 -0.78 TTTGTTGCTGACTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 81 140 1 1 1 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00854984023076533 0.00121851186452548 NA 0.995115823952355 NA 0.00488417604764541 NA FALSE NA 0 -0.857 . intron_variant&NMD_transcript_variant MODIFIER PDSS1 HGNC 17759 ENST00000491711 3/7 1 NA GCC C,A 8.236e-06 10:26735200 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 intron_variant 0.489756 0.19077 0.1293 0.099367 0.788976017137962 0.144638 0.263151860027171 FALSE 8.13094e-06 ENSE00001098415_005 ENSE00001098415 005 10 27024119 27024288 + 50 81 39 G T 27024169 634 51 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGTTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735239 26735240 26735240 exon 1 0.0123456790123457 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGTTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 243 89 1 0.956490492122547 0.978245246061274 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00854984023076533 -0.0422909960129274 NA 0.995115823952355 NA -0.016870577891081 NA FALSE NA 1 9.841 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE PDSS1 HGNC 17759 ENST00000491711 4/8 1 deleterious(0) probably_damaging(0.987) NA GGT G,T 8.236e-06 10:26735240 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 missense_variant 7.080357 0.98561 0.98765 0.6512 0.995758195750494 0 0.263151860027171 FALSE NA ENSE00001098415_006 ENSE00001098415 006 10 27024119 27024288 + 50 81 39 G A 27024175 635 57 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTATTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735245 26735246 26735246 exon 7 0.0864197530864197 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTATTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 429 52 1 1 1 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00854984023076533 0.00121851186452548 NA 0.995115823952355 NA 0.00488417604764541 NA FALSE NA 1 4.053 . missense_variant&NMD_transcript_variant MODERATE PDSS1 HGNC 17759 ENST00000491711 4/8 1 tolerated(0.65) benign(0.018) NA TGT G,A 8.236e-06 10:26735246 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 missense_variant 2.117846 0.90896 0.80193 0.722319 0.929824611165945 0 0.263151860027171 FALSE 4.0619e-06 ENSE00001098415_007 ENSE00001098415 007 10 27024119 27024288 + 50 81 39 C G 27024189 636 71 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCGGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735259 26735260 26735260 exon 21 0.259259259259259 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCGGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 138 135 1 1 1 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00854984023076533 0.00121851186452548 NA 0.995115823952355 NA 0.00488417604764541 NA FALSE NA 0.994 0.109 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:26735260 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 synonymous_variant 1.8817 0.90772 0.72223 0.722319 0.686277874647259 0 0.263151860027171 FALSE 4.0621e-06 ENSE00001098415_008 ENSE00001098415 008 10 27024119 27024288 + 50 81 39 C T 27024189 637 71 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCTGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735259 26735260 26735260 exon 21 0.259259259259259 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCTGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 365 626 0.999887196688127 0.870368483412597 0.935127840050362 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00843703691889208 -0.128413004722878 NA 0.995115823952355 NA -0.0599879839019928 NA FALSE NA 0.994 0.109 NA NA NA PDSS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDSS1 NA NA NA ENSG00000148459 ENSE00003508335 synonymous_variant 2.360568 0.87632 0.42324 0.722319 0.692009643488449 0 0.263151860027171 FALSE 0 ENSE00001098415_009 ENSE00001098415 009 10 27024119 27024288 + 50 81 39 G A 27024190 638 72 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCAACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735260 26735261 26735261 exon 22 0.271604938271605 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCAACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 69 83 1 1 1 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00854984023076533 0.00121851186452548 NA 0.995115823952355 NA 0.00488417604764541 NA FALSE NA 1 9.841 rs147864501 missense_variant&NMD_transcript_variant MODERATE PDSS1 HGNC 17759 ENST00000491711 4/8 rs147864501 1 tolerated(0.18) benign(0.032) NA A:0 A:0.0001 CGA G,A 1.647e-05 10:26735261 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 missense_variant 4.71534 0.97862 0.98239 0.6512 0.998470227371033 0 0.263151860027171 FALSE 1.2186e-05 ENSE00001098415_011 ENSE00001098415 011 10 27024119 27024288 + 50 81 39 T C 27024197 640 79 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGCGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735267 26735268 26735268 exon 29 0.358024691358025 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGCGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 719 28 0.999541202477669 1 0.999770601238834 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00809104270843419 0.00121851186452548 NA 0.995115823952355 NA 0.00465477728647984 NA FALSE NA 0.996 0.971 . missense_variant&NMD_transcript_variant MODERATE PDSS1 HGNC 17759 ENST00000491711 4/8 rs367783149 1 tolerated(0.62) benign(0.001) NA GTG T,C 3.295e-05 10:26735268 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 missense_variant 0.283262 0.34371 0.62854 0.722319 0.811294829904777 0 0.263151860027171 FALSE 3.65574e-05 ENSE00001098415_013 ENSE00001098415 013 10 27024119 27024288 + 50 81 39 G A 27024211 642 93 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCACCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735281 26735282 26735282 exon -39 0.530864197530864 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCACCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 241 2099 0.991552874942309 0.999818484959298 0.995685679950803 NA NA 0.991450159769235 0.998781488135475 NA NA 0.000102715173074031 0.00103699682382363 NA 0.995115823952355 NA 0.000569855998448832 NA FALSE NA 1 9.841 . missense_variant&NMD_transcript_variant MODERATE PDSS1 HGNC 17759 ENST00000491711 4/8 COSM1474571 1 deleterious(0.02) benign(0.345) NA CGC G,A 1.647e-05 10:26735282 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 missense_variant 6.010548 0.97862 0.98239 0.562547 0.998903297115011 0 0.263151860027171 FALSE 8.1242e-06 ENSE00001098415_014 ENSE00001098415 014 10 27024119 27024288 + 50 81 39 C T 27024222 643 104 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTATGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735292 26735293 26735293 exon -28 0.666666666666667 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTATGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 110 551 1 1 1 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00854984023076533 0.00121851186452548 NA 0.995115823952355 NA 0.00488417604764541 NA FALSE NA 0.015 -1.065 . synonymous_variant&NMD_transcript_variant LOW PDSS1 HGNC 17759 ENST00000491711 4/8 rs534121169 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACG C,T 1.647e-05 10:26735293 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 synonymous_variant 1.497628 0.63876 0.0863 0.67177 0.526985414869004 0 0.263151860027171 FALSE 1.62477e-05 ENSE00001098415_016 ENSE00001098415 016 10 27024119 27024288 + 50 81 39 A G 27024230 645 112 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAGTGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735300 26735301 26735301 exon -20 0.765432098765432 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAGTGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 1657 511 0.948444361231194 1 0.974222180615597 NA NA 0.991450159769235 0.998781488135475 NA NA -0.043005798538041 0.00121851186452548 NA 0.995115823952355 NA -0.0208936433367578 NA FALSE NA 1 9.313 . missense_variant&NMD_transcript_variant MODERATE PDSS1 HGNC 17759 ENST00000491711 4/8 1 deleterious(0.03) benign(0.379) NA AAT A,G 8.236e-06 10:26735301 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 missense_variant 4.518776 0.97343 0.98169 0.67177 0.998283781204341 0 0.263151860027171 FALSE 4.0622e-06 ENSE00001098415_017 ENSE00001098415 017 10 27024119 27024288 + 50 81 39 A G 27024240 646 122 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATGGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735310 26735311 26735311 exon -10 0.888888888888889 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATGGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 1080 18 0.937639217770167 1 0.968819608885084 NA NA 0.991450159769235 0.998781488135475 NA NA -0.0538109419990672 0.00121851186452548 NA 0.995115823952355 NA -0.0262962150672709 NA FALSE NA 0.269 -0.358 . missense_variant&NMD_transcript_variant MODERATE PDSS1 HGNC 17759 ENST00000491711 4/8 1 tolerated(0.16) benign(0.034) NA TAG A,G 8.236e-06 10:26735311 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 missense_variant 1.403979 0.86562 0.39358 0.67177 0.953223510498328 0 0.263151860027171 FALSE 4.0623e-06 ENSE00001098415_018 ENSE00001098415 018 10 27024119 27024288 + 50 81 39 T G 27024257 647 139 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTAGGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 26735327 26735328 26735328 downstr_intron 8 1.21052631578947 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTAGGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 574 424 1 0.999626816830117 0.999813408415059 NA NA 0.991450159769235 0.998781488135475 NA NA 0.00854984023076533 0.000845328694642711 NA 0.995115823952355 NA 0.00469758446270402 NA FALSE NA 0 -0.56 . splice_region_variant&intron_variant&NMD_transcript_variant LOW PDSS1 HGNC 17759 ENST00000491711 4/7 1 NA ATG T,G 8.236e-06 10:26735328 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 splice_region_variant 0.762039 0.27625 0.10369 0.099367 0.569868406020968 0.252412 0.263151860027171 FALSE 4.06303e-06 ENSE00001098415_019 ENSE00001098415 019 10 27024119 27024288 + 50 81 39 A G 27024271 648 153 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTGAGAATGGTGGCGTAGTG 26735189 26735359 26735341 26735342 26735342 downstr_intron 22 1.57894736842105 TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTGAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG mutant NA NA NA NA NA 469 33 0.990603021510413 0.99517694653725 0.992889984023831 NA NA 0.991450159769235 0.998781488135475 NA NA -0.000847138258821989 -0.00360454159822465 NA 0.995115823952355 NA -0.00222583992852332 NA FALSE NA 0 -1.172 . intron_variant&NMD_transcript_variant MODIFIER PDSS1 HGNC 17759 ENST00000491711 4/7 rs528693323 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TAA A,G 1.647e-05 10:26735342 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003508335 intron_variant 0.298881 0.25533 0.11403 0.099367 0.571200781874553 0.108218 0.263151860027171 FALSE 8.12843e-06 ENSE00001098415_BRK ENSE00001098415 BRK 10 27024119 27024288 + 50 81 39 A,G; T,T NA NA NA TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCTTGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGCCTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG 26735189 26735359 NA NA NA NA NA NA TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCTTGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGCCTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG TTTGTTGCTGCCTGGAAGCAGCTTATCTCAGAATGCTCTTTCTGTTTCAGGTCTCTGTTCTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGAATAGCTTTTCAGGTTAGTATGCTTTTTATTTGTAAGAATGGTGGCGTAGTG control NA NA NA NA NA 297 435 0 0 0 NA NA 0.991450159769235 0.998781488135475 NA NA -0.991450159769235 -0.998781488135475 NA 0.995115823952355 NA -0.995115823952355 NA TRUE NA NA NA NA NA NA PDSS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDSS1 NA NA NA ENSG00000148459 ENSE00003508335 NA NA NA NA NA NA NA 0.263151860027171 FALSE NA ENSE00001098801_000 ENSE00001098801 000 10 18807215 18807384 + 50 81 39 NA NA NA NA NA TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 NA NA NA NA NA NA TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC natural NA NA NA NA NA 1429 2889 0.993897846791631 0.939284345884521 0.966591096338076 NA NA 0.993897846791631 0.939284345884521 NA NA 0 0 NA 0.966591096338076 NA 0 NA FALSE NA NA NA NA NA NA CACNB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNB2 NA NA NA ENSG00000165995 ENSE00001098801 NA NA NA NA NA NA NA 0.00182033784193924 FALSE NA ENSE00001099032_000 ENSE00001099032 000 11 34189415 34189584 - 35 90 45 NA NA NA NA NA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 NA NA NA NA NA NA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA natural 24 20 0.999648416850703 0.997686395606219 0.998667406228461 907 2444 0.895231476559844 0.995727887824958 0.945479682192401 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 0 0 0 0 0.998667406228461 0.945479682192401 0 0 0 FALSE FALSE NA NA NA NA NA ABTB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABTB2 NA NA NA ENSG00000166016 ENSE00001099032 NA NA NA NA NA NA NA 0.124650440326371 FALSE NA ENSE00001099032_001 ENSE00001099032 001 11 34189415 34189584 - 35 90 45 G T 34189425 970 160 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCAACCAGGCCCTA 34167867 34168037 34167877 34167878 34167878 downstr_intron 25 1.73529411764706 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCAACCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 360 18 1 0.813847649661408 0.906923824830704 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 -0.18188023816355 0.998667406228461 0.945479682192401 NA -0.0385558573616971 NA FALSE NA 0 -0.542 . intron_variant MODIFIER ABTB2 HGNC 23842 ENST00000435224 6/16 1 NA GGT G,T 8.236e-06 11:34167878 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 intron_variant 0.604213 0.21593 0.03533 0.106106 0.825549731316231 0.278851 0.124650440326371 FALSE 4.07206e-06 ENSE00001099032_002 ENSE00001099032 002 11 34189415 34189584 - 35 90 45 G A 34189427 971 158 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGTACCCAGGCCCTA 34167867 34168037 34167879 34167880 34167880 downstr_intron 23 1.67647058823529 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGTACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 1810 37 0.994417310592118 1 0.997208655296059 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.0991858340322741 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.0517289731036579 NA FALSE NA 0 -0.06 . intron_variant MODIFIER ABTB2 HGNC 23842 ENST00000435224 6/16 rs562002607 1 A:0.0004 A:0 A:0.0014 NA A:0.001 A:0 A:0 TGC G,A 8.236e-05 11:34167880 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 intron_variant 1.527838 0.18544 0.0164 0.106106 0.811148912775401 0.285447 0.124650440326371 FALSE 6.1063e-05 ENSE00001099032_008 ENSE00001099032 008 11 34189415 34189584 - 35 90 45 T C 34189451 977 134 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCGGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167903 34167904 34167904 exon -2 0.988888888888889 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCGGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 135 552 0.801929214707307 0.802484365850451 0.802206790278879 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA -0.093302261852537 -0.193243521974507 0.998667406228461 0.945479682192401 NA -0.143272891913522 NA FALSE NA 1 2.228 . missense_variant&splice_region_variant MODERATE ABTB2 HGNC 23842 ENST00000435224 6/17 1 deleterious(0.01) benign(0.209) NA CTG T,C 2.471e-05 11:34167904 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 3.768993 0.98486 0.97048 0.706298 0.995295574222482 0 0.124650440326371 FALSE 1.62542e-05 ENSE00001099032_009 ENSE00001099032 009 11 34189415 34189584 - 35 90 45 C T 34189467 978 118 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGACAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167919 34167920 34167920 exon -18 0.811111111111111 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGACAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 16 209 1 0.995120688775777 0.997560344387888 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 -0.000607199049181384 0.998667406228461 0.945479682192401 NA 0.0520806621954875 NA FALSE NA 1 7.82 . missense_variant MODERATE ABTB2 HGNC 23842 ENST00000435224 6/17 1 deleterious(0) probably_damaging(0.99) NA GCC C,T 8.236e-06 11:34167920 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 7.551871 0.99424 0.98461 0.706298 0.99935604999355 0 0.124650440326371 FALSE 4.06256e-06 ENSE00001099032_012 ENSE00001099032 012 11 34189415 34189584 - 35 90 45 C T 34189495 981 90 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCAATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167947 34167948 34167948 exon 45 0.5 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCAATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 200 30 0.992247493376183 0.808357018912084 0.900302256144133 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.097016016816339 -0.187370868912874 0.998667406228461 0.945479682192401 NA -0.0451774260482677 NA FALSE NA 0.001 -1.878 . synonymous_variant LOW ABTB2 HGNC 23842 ENST00000435224 6/17 1 NA TCG C,T 1.647e-05 11:34167948 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 synonymous_variant 2.114843 0.82225 0.07478 0.706298 0.792633460415386 0 0.124650440326371 FALSE 2.84363e-05 ENSE00001099032_013 ENSE00001099032 013 11 34189415 34189584 - 35 90 45 G A 34189496 982 89 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGTGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167948 34167949 34167949 exon 44 0.488888888888889 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGTGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 1293 234 0.998325397814291 0.999674064064686 0.998999730939488 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.103093921254447 0.00394617623972715 0.998667406228461 0.945479682192401 NA 0.053520048747087 NA FALSE NA 1 9.873 . missense_variant MODERATE ABTB2 HGNC 23842 ENST00000435224 6/17 1 tolerated(0.09) probably_damaging(0.999) NA CGC G,A 1.647e-05 11:34167949 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 5.882897 0.99438 0.99122 0.706298 0.999180892969202 0 0.124650440326371 FALSE 8.12473e-06 ENSE00001099032_015 ENSE00001099032 015 11 34189415 34189584 - 35 90 45 C T 34189509 984 76 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTACTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167961 34167962 34167962 exon 31 0.344444444444444 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTACTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 260 364 1 0.980843751355658 0.990421875677829 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 -0.0148841364693004 0.998667406228461 0.945479682192401 NA 0.0449421934854279 NA FALSE NA 0.021 1.225 . missense_variant MODERATE ABTB2 HGNC 23842 ENST00000435224 6/17 1 tolerated(0.26) benign(0.064) NA GCA C,T 8.236e-06 11:34167962 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 2.588571 0.98614 0.4864 0.706298 0.998949087376331 0 0.124650440326371 FALSE 8.12513e-06 ENSE00001099032_016 ENSE00001099032 016 11 34189415 34189584 - 35 90 45 C T 34189512 985 73 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCACTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167964 34167965 34167965 exon 28 0.311111111111111 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCACTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 226 188 0.994787094370339 1 0.997393547185169 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.0995556178104952 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.0519138649927684 NA FALSE NA 1 3.779 rs139973706 missense_variant MODERATE ABTB2 HGNC 23842 ENST00000435224 6/17 rs139973706 1 tolerated(0.06) possibly_damaging(0.699) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0.0003 GCG C,T 0.0002059 11:34167965 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 5.067368 0.98615 0.95305 0.706298 0.998210457943894 0 0.124650440326371 FALSE 0.000239724 ENSE00001099032_020 ENSE00001099032 020 11 34189415 34189584 - 35 90 45 C T 34189518 989 67 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACACCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167970 34167971 34167971 exon 22 0.244444444444444 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACACCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 11 35 1 0.998905195377067 0.999452597688534 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00317730755210888 0.998667406228461 0.945479682192401 NA 0.0539729154961326 NA FALSE NA 1 7.82 NA NA NA ABTB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:34167971 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 6.837645 0.99424 0.98461 0.706298 0.999188534558996 0 0.124650440326371 FALSE 0.000130043 ENSE00001099032_021 ENSE00001099032 021 11 34189415 34189584 - 35 90 45 G A 34189519 990 66 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTATGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167971 34167972 34167972 exon 21 0.233333333333333 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTATGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 35 333 1 1 1 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.054520317807599 NA FALSE NA 0 -3.924 . synonymous_variant LOW ABTB2 HGNC 23842 ENST00000435224 6/17 rs546767177 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGT G,A 3.295e-05 11:34167972 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 synonymous_variant -0.18536 0.28547 0.03277 0.706298 0.385247613895492 0 0.124650440326371 FALSE 2.84504e-05 ENSE00001099032_022 ENSE00001099032 022 11 34189415 34189584 - 35 90 45 G A 34189530 991 55 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGTCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167982 34167983 34167983 exon 10 0.111111111111111 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGTCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 91 92 0.992531936383521 1 0.996265968191761 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.0973004598236777 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.0507862859993597 NA FALSE NA 1 9.873 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:34167983 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 5.361618 0.99438 0.99122 0.706298 0.999196145058873 0 0.124650440326371 FALSE 4.0656e-06 ENSE00001099032_023 ENSE00001099032 023 11 34189415 34189584 - 35 90 45 G T 34189530 992 55 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGACACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167982 34167983 34167983 exon 10 0.111111111111111 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGACACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 42 370 1 0.997598660136388 0.998799330068194 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00187077231142974 0.998667406228461 0.945479682192401 NA 0.053319647875793 NA FALSE NA 1 9.873 NA NA NA ABTB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABTB2 NA NA NA ENSG00000166016 ENSE00001099032 missense_variant 5.026921 0.99453 0.99248 0.706298 0.997005940692462 0 0.124650440326371 FALSE 4.0656e-06 ENSE00001099032_024 ENSE00001099032 024 11 34189415 34189584 - 35 90 45 C T 34189531 993 54 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACACCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167983 34167984 34167984 exon 9 0.1 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACACCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 57 13 1 1 1 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.054520317807599 NA FALSE NA 0.001 -1.622 . synonymous_variant LOW ABTB2 HGNC 23842 ENST00000435224 6/17 rs375692610 1 NA T:0.0002 T:0 GCG C,T 8.236e-06 11:34167984 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 synonymous_variant 1.740402 0.69305 0.06904 0.706298 0.40466106059509 0 0.124650440326371 FALSE NA ENSE00001099032_025 ENSE00001099032 025 11 34189415 34189584 - 35 90 45 G A 34189532 994 53 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGATGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167984 34167985 34167985 exon 8 0.0888888888888889 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGATGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 377 1372 0.999890788930397 1 0.999945394465198 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104659312370553 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.0544657122727975 NA FALSE NA 1 9.873 . missense_variant MODERATE ABTB2 HGNC 23842 ENST00000435224 6/17 1 deleterious(0) probably_damaging(0.987) NA CGT G,A 3.295e-05 11:34167985 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 6.044898 0.99438 0.99122 0.706298 0.998955850936756 0 0.124650440326371 FALSE 1.6273e-05 ENSE00001099032_026 ENSE00001099032 026 11 34189415 34189584 - 35 90 45 A G 34189535 995 50 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTACGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167987 34167988 34167988 exon 5 0.0555555555555556 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTACGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 479 1463 1 0.999973983004998 0.999986991502499 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00424609518003916 0.998667406228461 0.945479682192401 NA 0.0545073093100977 NA FALSE NA 1 9.343 . missense_variant MODERATE ABTB2 HGNC 23842 ENST00000435224 6/17 1 deleterious(0) benign(0.401) NA CAT A,G 1.647e-05 11:34167988 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 3.154235 0.99245 0.99011 0.706298 0.981520675872315 0 0.124650440326371 FALSE 8.13504e-06 ENSE00001099032_027 ENSE00001099032 027 11 34189415 34189584 - 35 90 45 C G 34189538 996 47 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGCTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167990 34167991 34167991 exon 2 0.0222222222222222 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGCTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 50 1694 1 0.999906628621239 0.999953314310619 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00417874079628056 0.998667406228461 0.945479682192401 NA 0.0544736321182184 NA FALSE NA 1 7.82 . missense_variant&splice_region_variant MODERATE ABTB2 HGNC 23842 ENST00000435224 6/17 1 deleterious(0.02) probably_damaging(0.985) NA ACC C,G 8.236e-06 11:34167991 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 missense_variant 5.128429 0.99454 0.98853 0.706298 0.997743102657333 0 0.124650440326371 FALSE 4.07077e-06 ENSE00001099032_028 ENSE00001099032 028 11 34189415 34189584 - 35 90 45 A G 34189543 997 42 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCCCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167995 34167996 34167996 upstr_intron -4 -0.0666666666666667 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCCCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 78 45 1 0.951372334742568 0.975686167371284 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 -0.0443555530823904 0.998667406228461 0.945479682192401 NA 0.030206485178883 NA FALSE NA 0 -4.732 . splice_region_variant&intron_variant LOW ABTB2 HGNC 23842 ENST00000435224 5/16 rs370573932 1 NA G:0 G:0.0002 GAG A,G 6.589e-05 11:34167996 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 splice_region_variant -0.321983 0.1654 0.01497 0.088506 0.412382724637212 0.281614 0.124650440326371 FALSE 4.48211e-05 ENSE00001099032_029 ENSE00001099032 029 11 34189415 34189584 - 35 90 45 A G 34189546 998 39 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTCGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34167998 34167999 34167999 upstr_intron -7 -0.133333333333333 TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTCGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 332 2306 1 0.979542236509003 0.989771118254501 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 -0.0161856513159554 0.998667406228461 0.945479682192401 NA 0.0442914360621005 NA FALSE NA 0.045 1.998 . splice_region_variant&intron_variant LOW ABTB2 HGNC 23842 ENST00000435224 5/16 1 NA CAA A,G 8.236e-06 11:34167999 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 splice_region_variant -0.148874 0.20301 0.00371 0.088506 0.445274957572921 0.271116 0.124650440326371 FALSE 2.44602e-05 ENSE00001099032_030 ENSE00001099032 030 11 34189415 34189584 - 35 90 45 C T 34189556 999 29 TGTTCTGTTTGCAAACAGTTTAGCACGTACATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34168008 34168009 34168009 upstr_intron -17 -0.355555555555556 TGTTCTGTTTGCAAACAGTTTAGCACGTACATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 316 45 0.983596831462802 0.998290444196259 0.99094363782953 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.088365354902958 0.00256255637130021 0.998667406228461 0.945479682192401 NA 0.0454639556371291 NA FALSE NA 0 -0.501 . intron_variant MODIFIER ABTB2 HGNC 23842 ENST00000435224 5/16 rs373970871 1 NA T:0.0002 T:0 GCA C,T 8.237e-06 11:34168009 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 intron_variant 0.045968 0.24286 0.04555 0.088506 0.468020361446299 0.198953 0.124650440326371 FALSE 8.20877e-06 ENSE00001099032_033 ENSE00001099032 033 11 34189415 34189584 - 35 90 45 G A 34189559 1002 26 TGTTCTGTTTGCAAACAGTTTAGCATGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34168011 34168012 34168012 upstr_intron -20 -0.422222222222222 TGTTCTGTTTGCAAACAGTTTAGCATGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 174 16 1 1 1 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.054520317807599 NA FALSE NA 0 0.163 NA NA NA ABTB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:34168012 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 intron_variant -0.271393 0.11469 0.00062 0.088506 0.399406216718337 0.198953 0.124650440326371 FALSE 8.24518e-06 ENSE00001099032_034 ENSE00001099032 034 11 34189415 34189584 - 35 90 45 A G 34189564 1003 21 TGTTCTGTTTGCAAACAGTTCAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34168016 34168017 34168017 upstr_intron -25 -0.533333333333333 TGTTCTGTTTGCAAACAGTTCAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 15 250 1 1 1 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.054520317807599 NA FALSE NA 0 -4.846 rs4756111 intron_variant MODIFIER ABTB2 HGNC 23842 ENST00000435224 5/16 rs4756111 1 A:0.1328 G:0.708 G:0.8444 NA G:1 G:0.9245 G:0.9029 G:0.7425 G:0.9174 TAA G,G 0.892 11:34168017 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 intron_variant -0.230044 0.08688 0.00347 0.088506 0.193301888540572 0.198953 0.124650440326371 FALSE 0.892813 ENSE00001099032_035 ENSE00001099032 035 11 34189415 34189584 - 35 90 45 A G 34189565 1004 20 TGTTCTGTTTGCAAACAGTCTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34168017 34168018 34168018 upstr_intron -26 -0.555555555555556 TGTTCTGTTTGCAAACAGTCTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 76 28 1 1 1 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.054520317807599 NA FALSE NA 0 0.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:34168018 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 intron_variant 0.265808 0.21392 0.06333 0.088506 0.163678862499831 0.169832 0.124650440326371 FALSE 0.000434336 ENSE00001099032_037 ENSE00001099032 037 11 34189415 34189584 - 35 90 45 T G 34189571 1006 14 TGTTCTGTTTGCACACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA 34167867 34168037 34168023 34168024 34168024 upstr_intron -32 -0.688888888888889 TGTTCTGTTTGCACACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA TGTTCTGTTTGCAAACAGTTTAGCACGTGCATTTGATTTGCTCAGGGTATGACGCCACTGATGTACGCCTGCGCTGCTGGGGACGAAGCGATGGTCCAGATGTTGATTGATGCTGGGGCAAACTTGGACATCCAGGTGAGGAAGCCCCACAGAGCTGCACCCAGGCCCTA mutant NA NA NA NA NA 11 13 1 1 1 0.999648416850703 0.997686395606219 0.895231476559844 0.995727887824958 NA NA 0.104768523440156 0.00427211217504164 0.998667406228461 0.945479682192401 NA 0.054520317807599 NA FALSE NA 0 0.223 NA NA NA ABTB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:34168024 ABTB2 HGNC Symbol protein_coding 207020 ENSG00000166016 ENSE00001099032 intron_variant 0.17381 0.29647 0.08592 0.088506 0.350970960000631 0.0758461 0.124650440326371 FALSE 0.000257654 ENSE00001099223_000 ENSE00001099223 000 11 95574748 95574917 - 33 93 44 NA NA NA NA NA GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 NA NA NA NA NA NA GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC natural 115 131 0.994058092222814 0.986754157267687 0.990406124745251 4791 8115 0.906519156278713 0.98021714199586 0.943368149137287 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 0 0 0 0 0.990406124745251 0.943368149137287 0 0 0 FALSE FALSE NA NA NA NA NA MTMR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR2 NA NA NA ENSG00000087053 ENSE00001099223 NA NA NA NA NA NA NA 0.212768599766799 FALSE NA ENSE00001099223_001 ENSE00001099223 001 11 95574748 95574917 - 33 93 44 A G 95574759 2298 159 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTACTCTTACACATC 95841583 95841753 95841594 95841595 95841595 downstr_intron 22 1.6875 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTACTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 572 386 1 0.962284841809777 0.981142420904889 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA 0.0934808437212866 -0.0179323001860824 0.990406124745251 0.943368149137287 NA 0.0377742717676021 NA FALSE NA 0 0.93 . intron_variant MODIFIER MTMR2 HGNC 7450 ENST00000444541 13/15 1 NA AAT A,G 1.647e-05 11:95841595 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 intron_variant 0.166517 0.21297 0.0574 0.163922 0.500354469872634 0.061947 0.212768599766799 FALSE 8.17862e-06 ENSE00001099223_002 ENSE00001099223 002 11 95574748 95574917 - 33 93 44 T G 95574760 2299 158 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTCTTCTTACACATC 95841583 95841753 95841595 95841596 95841596 downstr_intron 21 1.65625 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTCTTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 813 1184 0.989969470307359 0.993821955144433 0.991895712725896 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA 0.0834503140286452 0.0136048131485736 0.990406124745251 0.943368149137287 NA 0.0485275635886094 NA FALSE NA 0 -0.37 . intron_variant MODIFIER MTMR2 HGNC 7450 ENST00000444541 13/15 1 NA ATA T,G 8.236e-06 11:95841596 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 intron_variant 0.124552 0.14481 0.01741 0.163922 0.607438775434048 0.061947 0.212768599766799 FALSE 4.08898e-06 ENSE00001099223_003 ENSE00001099223 003 11 95574748 95574917 - 33 93 44 T C 95574764 2300 154 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTGTGTATTCTTACACATC 95841583 95841753 95841599 95841600 95841600 downstr_intron 17 1.53125 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTGTGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 120 144 0.882353637143049 0.85 0.866176818571525 1006 1422 0.929275930374285 0.966582808381518 0.947929369377901 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.111704455079765 -0.136754157267687 0.0227567740955713 -0.0136343336143415 0.990406124745251 0.943368149137287 -0.124229306173726 0.00456122024061489 0.128790526414341 FALSE FALSE 0 0.119 . intron_variant MODIFIER MTMR2 HGNC 7450 ENST00000444541 13/15 1 NA ATA T,C 3.295e-05 11:95841600 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 intron_variant 0.166588 0.19485 0.05899 0.322412 0.684655251842991 0.061947 0.212768599766799 FALSE 2.85978e-05 ENSE00001099223_004 ENSE00001099223 004 11 95574748 95574917 - 33 93 44 C T 95574769 2301 149 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTAGCCTATGTATTCTTACACATC 95841583 95841753 95841604 95841605 95841605 downstr_intron 12 1.375 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTAGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 65 188 1 0.999797313488247 0.999898656744124 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA 0.0934808437212866 0.0195801714923878 0.990406124745251 0.943368149137287 NA 0.0565305076068372 NA FALSE NA 0.004 0.585 . intron_variant MODIFIER MTMR2 HGNC 7450 ENST00000444541 13/15 1 NA CCA C,T 2.471e-05 11:95841605 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 intron_variant 1.480484 0.25326 0.06182 0.322412 0.780565142457614 0.160776 0.212768599766799 FALSE 2.45058e-05 ENSE00001099223_005 ENSE00001099223 005 11 95574748 95574917 - 33 93 44 G A 95574795 2302 123 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGTAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841630 95841631 95841631 exon -15 0.849462365591398 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGTAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 31 22 0.85 0.85 0.85 NA NA NA NA NA 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.144058092222814 -0.136754157267687 NA NA 0.990406124745251 0.943368149137287 -0.140406124745251 NA NA NA FALSE 1 9.678 . stop_gained HIGH MTMR2 HGNC 7450 ENST00000444541 13/16 1 NA HC TGC G,A 8.236e-06 11:95841631 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 stop_gained 14.479491 0.99539 0.99275 0.732398 0.997981103139676 0 0.212768599766799 FALSE NA ENSE00001099223_006 ENSE00001099223 006 11 95574748 95574917 - 33 93 44 A G 95574802 2303 116 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGCGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841637 95841638 95841638 exon -22 0.774193548387097 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGCGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 31 483 1 0.999446538364967 0.999723269182484 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA 0.0934808437212866 0.0192293963691077 0.990406124745251 0.943368149137287 NA 0.0563551200451972 NA FALSE NA 0.997 0.757 . synonymous_variant LOW MTMR2 HGNC 7450 ENST00000444541 13/16 1 NA CAC A,G 8.236e-06 11:95841638 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 synonymous_variant 0.026944 0.97583 0.82231 0.732398 0.814792050792095 0 0.212768599766799 FALSE 1.62977e-05 ENSE00001099223_007 ENSE00001099223 007 11 95574748 95574917 - 33 93 44 C G 95574803 2304 115 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTCTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841638 95841639 95841639 exon -23 0.763440860215054 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTCTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 70 83 0.85 0.85 0.85 469 64 0.921938479166823 0.935443274416458 0.928690876791641 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.144058092222814 -0.136754157267687 0.0154193228881101 -0.0447738675794017 0.990406124745251 0.943368149137287 -0.140406124745251 -0.0146772723456458 0.125728852399605 FALSE FALSE 1 7.67 . missense_variant MODERATE MTMR2 HGNC 7450 ENST00000444541 13/16 1 NA ACA C,G 8.236e-06 11:95841639 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 missense_variant 4.640842 0.99552 0.9905 0.732398 0.993570590977943 0 0.212768599766799 FALSE NA ENSE00001099223_008 ENSE00001099223 008 11 95574748 95574917 - 33 93 44 T C 95574814 2305 104 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAGTTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841649 95841650 95841650 exon -34 0.645161290322581 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAGTTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 12 42 0.85 0.85 0.85 1580 740 0.995486187830753 0.998756093710056 0.997121140770405 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.144058092222814 -0.136754157267687 0.0889670315520397 0.0185389517141967 0.990406124745251 0.943368149137287 -0.140406124745251 0.0537529916331182 0.194159116378369 FALSE FALSE 1 1.69 . synonymous_variant LOW MTMR2 HGNC 7450 ENST00000444541 13/16 rs376166939 1 NA C:0 C:0.0001 ATT T,C 8.236e-06 11:95841650 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 synonymous_variant 0.110894 0.97166 0.29034 0.732398 0.826266957973836 0 0.212768599766799 FALSE 3.66587e-05 ENSE00001099223_009 ENSE00001099223 009 11 95574748 95574917 - 33 93 44 G A 95574816 2306 102 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTTAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841651 95841652 95841652 exon -36 0.623655913978495 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTTAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 116 66 0 0 0 29 154 0 0.00994060429605789 0.00497030214802894 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.994058092222814 -0.986754157267687 -0.906519156278713 -0.970276537699802 0.990406124745251 0.943368149137287 -0.990406124745251 -0.938397846989258 0.0520082777559933 TRUE TRUE 1 9.678 rs121434404 stop_gained HIGH MTMR2 HGNC 7450 ENST00000444541 13/16 rs121434404&IPNMDB_434&CM000761 1 NA HC TGA G,A 8.236e-06 11:95841652 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 stop_gained 14.024387 0.99539 0.99275 0.732398 0.997813125298677 0 0.212768599766799 FALSE 4.07359e-06 ENSE00001099223_010 ENSE00001099223 010 11 95574748 95574917 - 33 93 44 C T 95574829 2307 89 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCACCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841664 95841665 95841665 exon 45 0.483870967741935 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCACCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 296 565 0.848146001222522 0.85 0.849073000611261 38 47 0.897528573517079 0.954110732027729 0.925819652772404 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.145912091000292 -0.136754157267687 -0.00899058276163434 -0.0261064099681304 0.990406124745251 0.943368149137287 -0.14133312413399 -0.0175484963648824 0.123784627769107 FALSE FALSE 0 -4.108 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:95841665 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 synonymous_variant 2.399237 0.08344 0.01549 0.732398 0.676296960417313 0 0.212768599766799 FALSE 0.000236189 ENSE00001099223_011 ENSE00001099223 011 11 95574748 95574917 - 33 93 44 C G 95574829 2308 89 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCCCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841664 95841665 95841665 exon 45 0.483870967741935 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCCCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 205 93 0.801271437634527 0.8 0.800635718817263 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA -0.105247718644186 -0.180217141995859 0.990406124745251 0.943368149137287 NA -0.142732430320023 NA FALSE NA 0 -4.108 NA NA NA MTMR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR2 NA NA NA ENSG00000087053 ENSE00001099223 synonymous_variant 1.77505 0.10062 0.03814 0.732398 0.683028235867 0 0.212768599766799 FALSE 1.22167e-05 ENSE00001099223_012 ENSE00001099223 012 11 95574748 95574917 - 33 93 44 C T 95574840 2309 78 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATACAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841675 95841676 95841676 exon 34 0.365591397849462 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATACAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 398 23 0.950457162815789 0.958357495820889 0.954407329318339 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA 0.0439380065370751 -0.0218596461749703 0.990406124745251 0.943368149137287 NA 0.0110391801810524 NA FALSE NA 1 3.064 . missense_variant MODERATE MTMR2 HGNC 7450 ENST00000444541 13/16 rs202119906 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCA C,T 8.236e-06 11:95841676 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 missense_variant 3.743084 0.98857 0.94843 0.732398 0.994217368397078 0 0.212768599766799 FALSE 4.07063e-06 ENSE00001099223_013 ENSE00001099223 013 11 95574748 95574917 - 33 93 44 T C 95574857 2310 61 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGGTAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841692 95841693 95841693 exon 17 0.182795698924731 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGGTAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 71 2563 0.841345575494948 0.937221094901366 0.889283335198157 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA -0.0651735807837652 -0.0429960470944935 0.990406124745251 0.943368149137287 NA -0.0540848139391293 NA FALSE NA 1 7.888 . missense_variant MODERATE MTMR2 HGNC 7450 ENST00000444541 13/16 rs554424343 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATC T,C 8.236e-06 11:95841693 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 missense_variant 4.895665 0.99347 0.98582 0.732398 0.988833536420446 0 0.212768599766799 FALSE 8.142e-06 ENSE00001099223_014 ENSE00001099223 014 11 95574748 95574917 - 33 93 44 C G 95574858 2311 60 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGACATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841693 95841694 95841694 exon 16 0.172043010752688 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGACATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 1143 118 0.956324154435374 0.961552590016971 0.958938372226172 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA 0.0498049981566606 -0.0186645519788887 0.990406124745251 0.943368149137287 NA 0.0155702230888859 NA FALSE NA 1 7.67 rs142460913 missense_variant MODERATE MTMR2 HGNC 7450 ENST00000444541 13/16 rs142460913 1 NA G:0 G:0.0001 TCT C,G 3.295e-05 11:95841694 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 missense_variant 5.382185 0.99552 0.9905 0.732398 0.992103229171205 0 0.212768599766799 FALSE 2.44254e-05 ENSE00001099223_015 ENSE00001099223 015 11 95574748 95574917 - 33 93 44 G A 95574865 2312 53 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGTCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841700 95841701 95841701 exon 9 0.0967741935483871 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGTCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 307 220 0.971826587861989 0.961958769393 0.966892678627494 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA 0.0653074315832751 -0.0182583726028598 0.990406124745251 0.943368149137287 NA 0.0235245294902077 NA FALSE NA 1 1.385 . synonymous_variant LOW MTMR2 HGNC 7450 ENST00000444541 13/16 rs369925329 1 NA A:0 A:0.0001 GGC G,A 4.118e-05 11:95841701 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 synonymous_variant 1.3021 0.97466 0.85002 0.732398 0.781192309280125 0 0.212768599766799 FALSE 4.47948e-05 ENSE00001099223_016 ENSE00001099223 016 11 95574748 95574917 - 33 93 44 C A 95574866 2313 52 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGTCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841701 95841702 95841702 exon 8 0.0860215053763441 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGTCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 1927 255 0.995766531258715 0.999700956229171 0.997733743743943 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA 0.0892473749800013 0.0194838142333118 0.990406124745251 0.943368149137287 NA 0.0543655946066566 NA FALSE NA 1 7.67 . missense_variant MODERATE MTMR2 HGNC 7450 ENST00000444541 13/16 1 NA GCC C,A 8.236e-06 11:95841702 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 missense_variant 7.275266 0.99547 0.98988 0.732398 0.997493687150838 0 0.212768599766799 FALSE 4.07189e-06 ENSE00001099223_017 ENSE00001099223 017 11 95574748 95574917 - 33 93 44 A G 95574868 2314 50 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTCGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841703 95841704 95841704 exon 6 0.0645161290322581 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTCGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant NA NA NA NA NA 647 336 0.852605924070183 1 0.926302962035092 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 NA NA -0.0539132322085299 0.0197828580041405 0.990406124745251 0.943368149137287 NA -0.0170651871021947 NA FALSE NA 0.267 -0.194 . synonymous_variant LOW MTMR2 HGNC 7450 ENST00000444541 13/16 1 NA CAA A,G 8.236e-06 11:95841704 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 synonymous_variant 0.893957 0.97052 0.31454 0.732398 0.823335177251145 0 0.212768599766799 FALSE 8.14392e-06 ENSE00001099223_018 ENSE00001099223 018 11 95574748 95574917 - 33 93 44 C T 95574874 2315 44 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAAAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841709 95841710 95841710 upstr_intron -1 0 GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAAAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 40 67 0.85 0.85 0.85 NA NA NA NA NA 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.144058092222814 -0.136754157267687 NA NA 0.990406124745251 0.943368149137287 -0.140406124745251 NA NA NA FALSE 1 7.555 . splice_acceptor_variant HIGH MTMR2 HGNC 7450 ENST00000444541 12/15 1 NA HC TCT C,T 8.237e-06 11:95841710 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 splice_acceptor_variant 5.805136 0.99533 0.99758 0.322412 0.995605268957048 0.983487 0.212768599766799 FALSE NA ENSE00001099223_019 ENSE00001099223 019 11 95574748 95574917 - 33 93 44 G C 95574886 2316 32 GAAAAATCCCCCTAAGTTCATATATTTCACTGTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841721 95841722 95841722 upstr_intron -13 -0.272727272727273 GAAAAATCCCCCTAAGTTCATATATTTCACTGTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 18 58 0.422183885899889 0.270769030086508 0.346476457993198 1978 1148 0.97773516000386 0.973616011159395 0.975675585581628 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.571874206322926 -0.715985127181179 0.0712160037251468 -0.00660113083646452 0.990406124745251 0.943368149137287 -0.643929666752052 0.0323074364443411 0.676237103196394 FALSE TRUE 0 -1.336 . intron_variant MODIFIER MTMR2 HGNC 7450 ENST00000444541 12/15 1 NA AGA G,C 8.237e-06 11:95841722 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 intron_variant 0.999072 0.08952 0.02626 0.088506 0.733270727458666 0.276217 0.212768599766799 FALSE 4.07621e-06 ENSE00001099223_020 ENSE00001099223 020 11 95574748 95574917 - 33 93 44 A C 95574892 2317 26 GAAAAATCCCCCTAAGTTCATATATGTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841727 95841728 95841728 upstr_intron -19 -0.409090909090909 GAAAAATCCCCCTAAGTTCATATATGTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 95 11 0.849560514164394 0.98024609696751 0.914903305565952 1930 673 0.994038216970997 0.961400661816675 0.977719439393836 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.144497578058421 -0.00650806030017681 0.0875190606922833 -0.0188164801791841 0.990406124745251 0.943368149137287 -0.0755028191792987 0.0343512902565496 0.109854109435848 FALSE FALSE 0.022 0.676 . intron_variant MODIFIER MTMR2 HGNC 7450 ENST00000444541 12/15 1 NA AAA A,C 2.471e-05 11:95841728 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 intron_variant 1.389589 0.30281 0.16756 0.088506 0.863116821429769 0.19771 0.212768599766799 FALSE 4.4865e-05 ENSE00001099223_021 ENSE00001099223 021 11 95574748 95574917 - 33 93 44 T C 95574896 2318 22 GAAAAATCCCCCTAAGTTCATGTATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 95841731 95841732 95841732 upstr_intron -23 -0.5 GAAAAATCCCCCTAAGTTCATGTATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC mutant 33 27 0.999478886986703 1 0.999739443493352 949 988 0.999434887147637 1 0.999717443573819 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 0.00542079476388868 0.0132458427323128 0.092915730868924 0.0197828580041405 0.990406124745251 0.943368149137287 0.00933331874810073 0.0563492944365322 0.0470159756884315 FALSE FALSE 0 -0.591 . intron_variant MODIFIER MTMR2 HGNC 7450 ENST00000444541 12/15 rs572740319 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATA T,C 8.237e-06 11:95841732 MTMR2 HGNC Symbol protein_coding 92433 ENSG00000087053 ENSE00001099223 intron_variant 1.075324 0.11512 0.02507 0.088506 0.794147718187055 0.197633 0.212768599766799 FALSE 4.08117e-06 ENSE00001099223_BRK ENSE00001099223 BRK 11 95574748 95574917 - 33 93 44 A,G; T,T NA NA NA GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCTTAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGCCAATTTATCTGGCCTATGTATTCTTACACATC 95841583 95841753 NA NA NA NA NA NA GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCTTAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGCCAATTTATCTGGCCTATGTATTCTTACACATC GAAAAATCCCCCTAAGTTCATATATTTCACTCTTTTTGCTTCAGAGAGTTGGCCATGGAGATAAGAACCATGCAGATGCAGACAGATCGCCTGTTTTTCTTCAATTTATTGACTGTGTCTGGCAGATGACAAGACAGGTAATTTATCTGGCCTATGTATTCTTACACATC control 167 38 0 0 0 1144 396 0.00935084978020425 0.0612350681098397 0.035292958945022 0.994058092222814 0.986754157267687 0.906519156278713 0.98021714199586 -0.994058092222814 -0.986754157267687 -0.897168306498509 -0.91898207388602 0.990406124745251 0.943368149137287 -0.990406124745251 -0.908075190192264 0.0823309345529863 TRUE TRUE NA NA NA NA NA MTMR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR2 NA NA NA ENSG00000087053 ENSE00001099223 NA NA NA NA NA NA NA 0.212768599766799 FALSE NA ENSE00001099740_000 ENSE00001099740 000 10 127349551 127349720 - 39 81 50 NA NA NA NA NA GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC 125660981 125661151 NA NA NA NA NA NA GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC natural 337 476 0.989741778778183 0.992477495157987 0.991109636968085 12697 8917 0.928300359761063 0.962224577717031 0.945262468739047 0.989741778778183 0.992477495157987 0.928300359761063 0.962224577717031 0 0 0 0 0.991109636968085 0.945262468739047 0 0 0 FALSE FALSE NA NA NA NA NA TEX36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEX36 NA NA NA ENSG00000175018 ENSE00001099740 NA NA NA NA NA NA NA NA NA NA ENSE00001099740_001 ENSE00001099740 001 10 127349551 127349720 - 39 81 50 T C 127349612 2799 109 GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAGCTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC 125660981 125661151 125661042 125661043 125661043 exon -23 0.728395061728395 GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAGCTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC mutant 38 67 0.995279838393766 0.948086898989593 0.97168336869168 3451 312 0.998161046170014 0.989755260376046 0.99395815327303 0.989741778778183 0.992477495157987 0.928300359761063 0.962224577717031 0.00553805961558351 -0.0443905961683941 0.0698606864089507 0.0275306826590147 0.991109636968085 0.945262468739047 -0.0194262682764053 0.0486956845339827 0.068121952810388 FALSE FALSE 0 0.382 . missense_variant MODERATE TEX36 HGNC 31653 ENST00000532135 3/4 rs201751585 1 tolerated(0.14) benign(0.102) NA GTT T,C 0.0001161 10:125661043 TEX36 HGNC Symbol protein_coding 106622 ENSG00000175018 ENSE00001099740 missense_variant -0.828791 0.22781 0.05179 0.487112 0.961009178136344 0 NA NA 2.6254e-05 ENSE00001099740_002 ENSE00001099740 002 10 127349551 127349720 - 39 81 50 T C 127349660 2800 61 GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAGTAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC 125660981 125661151 125661090 125661091 125661091 exon 11 0.135802469135802 GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAGTAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC mutant NA NA NA NA NA 1879 1486 0.9807766556 0.999357163500595 0.990066909550297 0.989741778778183 0.992477495157987 0.928300359761063 0.962224577717031 NA NA 0.0524762958389368 0.0371325857835638 0.991109636968085 0.945262468739047 NA 0.0448044408112503 NA FALSE NA 0.012 0.774 rs12779893 missense_variant MODERATE TEX36 HGNC 31653 ENST00000532135 3/4 1 tolerated(0.09) benign(0.102) NA ATT T,C 0.0007245 10:125661091 TEX36 HGNC Symbol protein_coding 106622 ENSG00000175018 ENSE00001099740 missense_variant -0.28788 0.21735 0.05749 0.487112 0.991819157289382 0 NA NA 0.000452619 ENSE00001099740_003 ENSE00001099740 003 10 127349551 127349720 - 39 81 50 A G 127349695 2801 26 GCATGCAGGGTTCTAATGTGTGCTCCTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC 125660981 125661151 125661125 125661126 125661126 upstr_intron -25 -0.48 GCATGCAGGGTTCTAATGTGTGCTCCTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC mutant NA NA NA NA NA 556 1411 0.999448321983022 0.999973024030648 0.999710673006835 0.989741778778183 0.992477495157987 0.928300359761063 0.962224577717031 NA NA 0.0711479622219596 0.0377484463136165 0.991109636968085 0.945262468739047 NA 0.0544482042677881 NA FALSE NA 0.001 0.722 rs193010870 intron_variant MODIFIER TEX36 HGNC 31653 ENST00000532135 2/3 rs193010870 1 G:0.0014 G:0.0053 G:0 NA G:0 G:0 G:0 AAG A,G 0.0005268 10:125661126 TEX36 HGNC Symbol protein_coding 106622 ENSG00000175018 ENSE00001099740 intron_variant -0.151487 0.16298 0.05832 0.061011 0.361552930749358 0.166422 NA NA 0.000263013 ENSE00001099740_004 ENSE00001099740 004 10 127349551 127349720 - 39 81 50 G A 127349698 2802 23 GCATGCAGGGTTCTAATGTGTGTTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC 125660981 125661151 125661128 125661129 125661129 upstr_intron -28 -0.54 GCATGCAGGGTTCTAATGTGTGTTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC mutant 52 32 0.995475520701165 1 0.997737760350582 727 1014 0.886891503779524 1 0.943445751889762 0.989741778778183 0.992477495157987 0.928300359761063 0.962224577717031 0.00573374192298193 0.00752250484201256 -0.0414088559815388 0.0377754222829688 0.991109636968085 0.945262468739047 0.00662812338249724 -0.00181671684928497 0.00844484023178221 FALSE FALSE 0.001 0.484 . intron_variant MODIFIER TEX36 HGNC 31653 ENST00000532135 2/3 1 NA AGC G,A 3.758e-05 10:125661129 TEX36 HGNC Symbol protein_coding 106622 ENSG00000175018 ENSE00001099740 intron_variant 0.015181 0.16954 0.05726 0.061011 0.536839879420808 0.166422 NA NA 1.97457e-05 ENSE00001099740_005 ENSE00001099740 005 10 127349551 127349720 - 39 81 50 A G 127349707 2803 14 GCATGCAGGGTTCCAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC 125660981 125661151 125661137 125661138 125661138 upstr_intron -37 -0.72 GCATGCAGGGTTCCAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC mutant 16 16 0.994072105020557 0.996168360925114 0.995120232972836 799 155 0.994941499014997 0.994863667242231 0.994902583128614 0.989741778778183 0.992477495157987 0.928300359761063 0.962224577717031 0.00433032624237439 0.00369086576712685 0.0666411392539337 0.0326390895251999 0.991109636968085 0.945262468739047 0.00401059600475062 0.0496401143895668 0.0456295183848162 FALSE FALSE 0.193 1.342 . intron_variant MODIFIER TEX36 HGNC 31653 ENST00000532135 2/3 1 NA TAG A,G 3.733e-05 10:125661138 TEX36 HGNC Symbol protein_coding 106622 ENSG00000175018 ENSE00001099740 intron_variant 0.180944 0.22899 0.15663 0.061011 0.586879048466397 0.166422 NA NA 3.95857e-05 ENSE00001099740_BRK ENSE00001099740 BRK 10 127349551 127349720 - 39 81 50 A,G; T,T NA NA NA GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCTTCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCCCGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC 125660981 125661151 NA NA NA NA NA NA GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCTTCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCCCGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC GCATGCAGGGTTCTAATGTGTGCTCTTTCCCTTCCATCCCACTTTTCCAGCAAGCAGTGAATAACCAGTTCCCCTTCTCCGTGCATGACAATCGGCACAGCTTGGAGAACTCTGGATGCTACCTTGACTCCGTGAGTATTTCTTTCCAAATTATTAATAAAACAGGGAAC control 373 398 0.00352864918504708 0 0.00176432459252354 1427 1165 0.150054407116063 0.00169490136992387 0.0758746542429936 0.989741778778183 0.992477495157987 0.928300359761063 0.962224577717031 -0.986213129593136 -0.992477495157987 -0.778245952645 -0.960529676347107 0.991109636968085 0.945262468739047 -0.989345312375562 -0.869387814496053 0.119957497879508 TRUE TRUE NA NA NA NA NA TEX36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEX36 NA NA NA ENSG00000175018 ENSE00001099740 NA NA NA NA NA NA NA NA NA NA ENSE00001099842_000 ENSE00001099842 000 11 134182656 134182825 + 54 72 44 NA NA NA NA NA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 NA NA NA NA NA NA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA natural NA NA NA NA NA 357 1267 0.999306285843795 0.990921061167797 0.995113673505796 NA NA 0.999306285843795 0.990921061167797 NA NA 0 0 NA 0.995113673505796 NA 0 NA FALSE NA NA NA NA NA NA GLB1L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLB1L3 NA NA NA ENSG00000166105 ENSE00003498605 NA NA NA NA NA NA NA 1.88655110815495e-13 FALSE NA ENSE00001099842_001 ENSE00001099842 001 11 134182656 134182825 + 54 72 44 C T 134182669 3162 14 TTCTCCCTTTCTTTGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312774 134312775 134312775 upstr_intron -41 -0.740740740740741 TTCTCCCTTTCTTTGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 137 326 1 1 1 NA NA 0.999306285843795 0.990921061167797 NA NA 0.000693714156205338 0.00907893883220301 NA 0.995113673505796 NA 0.00488632649420417 NA FALSE NA 0.001 -0.211 . intron_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 2/5 rs371736398 1 NA T:0 T:0.0002 TCG C,T 4.969e-05 11:134312775 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant 0.799655 0.10693 0.00515 0.060467 0.85459255986848 0.13793 1.88655110815495e-13 FALSE 4.19229e-05 ENSE00001099842_002 ENSE00001099842 002 11 134182656 134182825 + 54 72 44 G A 134182670 3163 15 TTCTCCCTTTCTTCAGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312775 134312776 134312776 upstr_intron -40 -0.722222222222222 TTCTCCCTTTCTTCAGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 931 248 0.997992334071124 0.999692499186377 0.99884241662875 NA NA 0.999306285843795 0.990921061167797 NA NA -0.0013139517726708 0.00877143801858005 NA 0.995113673505796 NA 0.00372874312295463 NA FALSE NA 0 -0.576 . intron_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 2/5 rs376721068 1 NA A:0 A:0.0001 CGG G,A 7.453e-05 11:134312776 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant 0.567222 0.10684 0.00395 0.060467 0.888358593395182 0.0871504 1.88655110815495e-13 FALSE 5.98273e-05 ENSE00001099842_004 ENSE00001099842 004 11 134182656 134182825 + 54 72 44 T C 134182685 3165 30 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGCCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312790 134312791 134312791 upstr_intron -25 -0.444444444444444 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGCCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 865 213 0.950803870563762 0.949577475453515 0.950190673008639 NA NA 0.999306285843795 0.990921061167797 NA NA -0.0485024152800327 -0.0413435857142818 NA 0.995113673505796 NA -0.0449230004971573 NA FALSE NA 0.03 1.333 . intron_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 2/5 rs368396885 1 NA C:0 C:0.0002 GTC T,C 4.967e-05 11:134312791 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant 0.323232 0.34383 0.13658 0.060467 0.694297577860093 0.0871504 1.88655110815495e-13 FALSE 2.1491e-05 ENSE00001099842_005 ENSE00001099842 005 11 134182656 134182825 + 54 72 44 C G 134182686 3166 31 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTGTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312791 134312792 134312792 upstr_intron -24 -0.425925925925926 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTGTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 351 464 0.909999320375495 0.839493360839056 0.874746340607276 NA NA 0.999306285843795 0.990921061167797 NA NA -0.0893069654682995 -0.151427700328741 NA 0.995113673505796 NA -0.12036733289852 NA FALSE NA 0.001 -0.043 . intron_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 2/5 rs372356529 1 NA G:0.0003 G:0 TCT C,G 3.311e-05 11:134312792 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant 0.366592 0.33858 0.09872 0.060467 0.653488489695841 0.0863311 1.88655110815495e-13 FALSE 1.28719e-05 ENSE00001099842_008 ENSE00001099842 008 11 134182656 134182825 + 54 72 44 G T 134182691 3169 36 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACTCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312796 134312797 134312797 upstr_intron -19 -0.333333333333333 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACTCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 15 47 1 0.996620025288707 0.998310012644354 NA NA 0.999306285843795 0.990921061167797 NA NA 0.000693714156205338 0.00569896412091009 NA 0.995113673505796 NA 0.00319633913855771 NA FALSE NA 0 -1.477 NA NA NA GLB1L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:134312797 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant -0.138117 0.11338 0.00791 0.060467 0.691892628086011 0.0871504 1.88655110815495e-13 FALSE NA ENSE00001099842_010 ENSE00001099842 010 11 134182656 134182825 + 54 72 44 C T 134182693 3171 38 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCTGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312798 134312799 134312799 upstr_intron -17 -0.296296296296296 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCTGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 54 647 1 0.996946260396537 0.998473130198269 NA NA 0.999306285843795 0.990921061167797 NA NA 0.000693714156205338 0.00602519922874001 NA 0.995113673505796 NA 0.00335945669247267 NA FALSE NA 0 -1.784 . intron_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 2/5 rs369828108 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 CCG C,T 0.0001241 11:134312799 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant 0.069018 0.06949 0.0011 0.060467 0.698065314465346 0.0871504 1.88655110815495e-13 FALSE 0.000109476 ENSE00001099842_013 ENSE00001099842 013 11 134182656 134182825 + 54 72 44 T C 134182704 3174 49 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTCTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312809 134312810 134312810 upstr_intron -6 -0.0925925925925926 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTCTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 108 61 0 0 0 NA NA 0.999306285843795 0.990921061167797 NA NA -0.999306285843795 -0.990921061167797 NA 0.995113673505796 NA -0.995113673505796 NA TRUE NA 0.189 0.916 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW GLB1L3 HGNC 25147 ENST00000410100 2/5 1 NA TTT T,C 1.655e-05 11:134312810 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 splice_region_variant 0.602087 0.96613 0.23207 0.060467 0.698001641164143 0.941788 1.88655110815495e-13 FALSE 1.2406e-05 ENSE00001099842_014 ENSE00001099842 014 11 134182656 134182825 + 54 72 44 G A 134182712 3175 57 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTATTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312817 134312818 134312818 exon 3 0.0416666666666667 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTATTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 794 79 0.938815434380626 0.95 0.944407717190313 NA NA 0.999306285843795 0.990921061167797 NA NA -0.0604908514631682 -0.040921061167797 NA 0.995113673505796 NA -0.0507059563154826 NA FALSE NA 0.974 -0.064 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW GLB1L3 HGNC 25147 ENST00000410100 3/6 1 NA TGT G,A 8.276e-06 11:134312818 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 splice_region_variant 0.230564 0.93626 0.60239 0.634777 0.837270384891833 0 1.88655110815495e-13 FALSE 4.1212e-06 ENSE00001099842_019 ENSE00001099842 019 11 134182656 134182825 + 54 72 44 T C 134182729 3180 74 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAACGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312834 134312835 134312835 exon 20 0.277777777777778 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAACGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 81 118 1 1 1 NA NA 0.999306285843795 0.990921061167797 NA NA 0.000693714156205338 0.00907893883220301 NA 0.995113673505796 NA 0.00488632649420417 NA FALSE NA 0 -1.856 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 1 NA ATG T,C 1.655e-05 11:134312835 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 missense_variant -1.981629 0.09583 0.01614 0.634777 0.365892168944614 0 1.88655110815495e-13 FALSE 2.87191e-05 ENSE00001099842_020 ENSE00001099842 020 11 134182656 134182825 + 54 72 44 T G 134182732 3181 77 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGAGAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312837 134312838 134312838 exon 23 0.319444444444444 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGAGAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 40 31 1 1 1 NA NA 0.999306285843795 0.990921061167797 NA NA 0.000693714156205338 0.00907893883220301 NA 0.995113673505796 NA 0.00488632649420417 NA FALSE NA 0.996 3.701 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 1 NA ATA T,G 5.792e-05 11:134312838 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 missense_variant 3.704611 0.56277 0.89433 0.634777 0.983439372250978 0 1.88655110815495e-13 FALSE 4.5099e-05 ENSE00001099842_021 ENSE00001099842 021 11 134182656 134182825 + 54 72 44 G C 134182736 3182 81 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGCATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312841 134312842 134312842 exon 27 0.375 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGCATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 344 150 1 1 1 NA NA 0.999306285843795 0.990921061167797 NA NA 0.000693714156205338 0.00907893883220301 NA 0.995113673505796 NA 0.00488632649420417 NA FALSE NA 0 -1.782 rs140228378 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 rs140228378 1 C:0.0006 C:0.0015 C:0.0014 NA C:0 C:0 C:0 C:0.0018 C:0 GGA G,C 0.0001738 11:134312842 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 synonymous_variant -0.485819 0.15739 0.01366 0.634777 0.470022102340736 0 1.88655110815495e-13 FALSE 0.000131252 ENSE00001099842_022 ENSE00001099842 022 11 134182656 134182825 + 54 72 44 A G 134182737 3183 82 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGGTTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312842 134312843 134312843 exon 28 0.388888888888889 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGGTTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 10 27 1 1 1 NA NA 0.999306285843795 0.990921061167797 NA NA 0.000693714156205338 0.00907893883220301 NA 0.995113673505796 NA 0.00488632649420417 NA FALSE NA 0 -2.811 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 rs374988047 1 NA G:0 G:0.0001 GAT A,G 8.275e-06 11:134312843 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 missense_variant -3.648336 0.06416 0.00728 0.634777 0.368748485107288 0 1.88655110815495e-13 FALSE 4.09923e-06 ENSE00001099842_023 ENSE00001099842 023 11 134182656 134182825 + 54 72 44 T A 134182738 3184 83 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGAATCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312843 134312844 134312844 exon 29 0.402777777777778 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGAATCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 46 26 1 1 1 NA NA 0.999306285843795 0.990921061167797 NA NA 0.000693714156205338 0.00907893883220301 NA 0.995113673505796 NA 0.00488632649420417 NA FALSE NA 0 -1.163 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 rs369005800 1 NA A:0.0003 A:0 ATT T,A 8.275e-06 11:134312844 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 missense_variant 0.788821 0.18433 0.02066 0.634777 0.657516894876168 0 1.88655110815495e-13 FALSE 4.09561e-06 ENSE00001099842_024 ENSE00001099842 024 11 134182656 134182825 + 54 72 44 T C 134182741 3185 86 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCCGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312846 134312847 134312847 exon 32 0.444444444444444 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCCGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 622 133 0.999260077962096 0.998809016674747 0.999034547318421 NA NA 0.999306285843795 0.990921061167797 NA NA -4.62078816985123e-05 0.00788795550694954 NA 0.995113673505796 NA 0.00392087381262551 NA FALSE NA 0.155 3.701 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 rs557323079 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 CTG T,C 1.655e-05 11:134312847 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 missense_variant 2.273052 0.32428 0.38324 0.634777 0.99633091371263 0 1.88655110815495e-13 FALSE 8.19276e-06 ENSE00001099842_026 ENSE00001099842 026 11 134182656 134182825 + 54 72 44 T C 134182754 3187 99 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAACAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312859 134312860 134312860 exon -28 0.625 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAACAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 211 29 0.988729919872001 0.994506862966565 0.991618391419283 NA NA 0.999306285843795 0.990921061167797 NA NA -0.0105763659717936 0.00358580179876755 NA 0.995113673505796 NA -0.00349528208651301 NA FALSE NA 0 -1.864 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 rs372842855 1 NA C:0 C:0.0001 ATA T,C 7.446e-05 11:134312860 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 synonymous_variant -0.798903 0.11587 0.0147 0.634777 0.347614690534235 0 1.88655110815495e-13 FALSE 9.85003e-05 ENSE00001099842_027 ENSE00001099842 027 11 134182656 134182825 + 54 72 44 G A 134182757 3188 102 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAAGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312862 134312863 134312863 exon -25 0.666666666666667 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAAGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 270 116 0.945696481300295 0.924992386229235 0.935344433764765 NA NA 0.999306285843795 0.990921061167797 NA NA -0.0536098045434996 -0.0659286749385624 NA 0.995113673505796 NA -0.059769239741031 NA FALSE NA 0.004 0.95 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 rs199686698 1 NA A:0 A:0.0002 AGG G,A 0.0002482 11:134312863 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 synonymous_variant 0.280505 0.18809 0.07103 0.634777 0.434554052489354 0 1.88655110815495e-13 FALSE 0.000303906 ENSE00001099842_029 ENSE00001099842 029 11 134182656 134182825 + 54 72 44 C G 134182761 3190 106 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACGTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312866 134312867 134312867 exon -21 0.722222222222222 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACGTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 229 77 0.990263989829497 0.978996009257009 0.984629999543253 NA NA 0.999306285843795 0.990921061167797 NA NA -0.00904229601429807 -0.0119250519107877 NA 0.995113673505796 NA -0.0104836739625429 NA FALSE NA 0.001 -0.878 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 rs369647798 1 NA G:0 G:0.0001 CCT C,G 8.273e-06 11:134312867 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 missense_variant -0.82429 0.10515 0.01755 0.634777 0.943812176162481 0 1.88655110815495e-13 FALSE 4.12266e-06 ENSE00001099842_032 ENSE00001099842 032 11 134182656 134182825 + 54 72 44 C A 134182770 3193 115 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTACTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA 134312761 134312931 134312875 134312876 134312876 exon -12 0.847222222222222 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTACTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 463 713 0.964131780231152 0.844740219331567 0.904435999781359 NA NA 0.999306285843795 0.990921061167797 NA NA -0.0351745056126429 -0.14618084183623 NA 0.995113673505796 NA -0.0906776737244365 NA FALSE NA 1 2.215 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/6 COSM925221&COSM925220 1 NA TCC C,A 1.654e-05 11:134312876 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 missense_variant 1.332307 0.93527 0.89703 0.634777 0.99328067706823 0 1.88655110815495e-13 FALSE NA ENSE00001099842_034 ENSE00001099842 034 11 134182656 134182825 + 54 72 44 G A 134182808 3195 153 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATACCCTCGACCCCCCTCAA 134312761 134312931 134312913 134312914 134312914 downstr_intron 27 1.62790697674419 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATACCCTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 911 97 0.997870995677468 0.99796784686754 0.997919421272504 NA NA 0.999306285843795 0.990921061167797 NA NA -0.00143529016632682 0.00704678569974337 NA 0.995113673505796 NA 0.00280574776670828 NA FALSE NA 0 -1.32 . intron_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/5 1 NA TGC G,A 8.287e-06 11:134312914 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant 0.309784 0.12998 0.00411 0.060467 0.748101108173967 0.0455953 1.88655110815495e-13 FALSE NA ENSE00001099842_035 ENSE00001099842 035 11 134182656 134182825 + 54 72 44 C T 134182811 3196 156 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCTTCGACCCCCCTCAA 134312761 134312931 134312916 134312917 134312917 downstr_intron 30 1.69767441860465 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCTTCGACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 409 323 0.991267919587455 1 0.995633959793727 NA NA 0.999306285843795 0.990921061167797 NA NA -0.00803836625633991 0.00907893883220301 NA 0.995113673505796 NA 0.000520286287931548 NA FALSE NA 0 -0.053 . intron_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/5 1 NA CCT C,T 8.297e-06 11:134312917 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant 0.134052 0.13655 0.02903 0.060467 0.731121046180373 0.0455953 1.88655110815495e-13 FALSE 1.47317e-05 ENSE00001099842_038 ENSE00001099842 038 11 134182656 134182825 + 54 72 44 G A 134182814 3199 159 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCAACCCCCCTCAA 134312761 134312931 134312919 134312920 134312920 downstr_intron 33 1.76744186046512 TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCAACCCCCCTCAA TTCTCCCTTTCTTCGGGTGGGCCTAGCAGTCTGACGCCGGCTCTTCTTTTGCAGGTGTTTTTGGATGAGACAATGATAGGGATTCTGAATGAGAATAATAAGGACCTGCACATTCCTGAACTCAGGGTATGTAATTTGAGAGTCCAGGTGATGCCCTCGACCCCCCTCAA mutant NA NA NA NA NA 31 45 0.97336854314285 1 0.986684271571425 NA NA 0.999306285843795 0.990921061167797 NA NA -0.0259377427009448 0.00907893883220301 NA 0.995113673505796 NA -0.00842940193437092 NA FALSE NA 0 0.303 . intron_variant&non_coding_transcript_variant MODIFIER GLB1L3 HGNC 25147 ENST00000410100 3/5 1 NA CGA G,A 6.637e-05 11:134312920 GLB1L3 HGNC Symbol protein_coding 45319 ENSG00000166105 ENSE00003498605 intron_variant -0.07204 0.14807 0.05857 0.060467 0.402640030248427 0.0455953 1.88655110815495e-13 FALSE 2.46252e-05 ENSE00001099953_000 ENSE00001099953 000 15 63042556 63042725 + 45 90 35 NA NA NA NA NA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA 62750356 62750526 NA NA NA NA NA NA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA natural NA NA NA NA NA 414 640 0.997771615599489 0.994181561815159 0.995976588707324 NA NA 0.997771615599489 0.994181561815159 NA NA 0 0 NA 0.995976588707324 NA 0 NA FALSE NA NA NA NA NA NA TLN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLN2 NA NA NA ENSG00000171914 ENSE00003652593 NA NA NA NA NA NA NA 0.999853230773704 TRUE NA ENSE00001099953_004 ENSE00001099953 004 15 63042556 63042725 + 45 90 35 C A 63042589 1238 34 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTATTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA 62750356 62750526 62750389 62750390 62750390 upstr_intron -12 -0.244444444444444 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTATTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA mutant NA NA NA NA NA 200 44 1 0.974981379311518 0.987490689655759 NA NA 0.997771615599489 0.994181561815159 NA NA 0.00222838440051087 -0.0192001825036412 NA 0.995976588707324 NA -0.00848589905156516 NA FALSE NA 0.051 -0.081 . intron_variant MODIFIER TLN2 HGNC 15447 ENST00000494733 6/31 1 NA TCT C,A 8.237e-06 15:62750390 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00003652593 intron_variant 0.42212 0.24121 0.18964 0.053691 0.557243078063654 0.0916489 0.999853230773704 TRUE NA ENSE00001099953_008 ENSE00001099953 008 15 63042556 63042725 + 45 90 35 T C 63042624 1242 69 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAACCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA 62750356 62750526 62750424 62750425 62750425 exon 24 0.266666666666667 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAACCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA mutant NA NA NA NA NA 59 31 1 1 1 NA NA 0.997771615599489 0.994181561815159 NA NA 0.00222838440051087 0.00581843818484129 NA 0.995976588707324 NA 0.00402341129267608 NA FALSE NA 0.878 0.073 rs78491375 synonymous_variant LOW TLN2 HGNC 15447 ENST00000494733 7/32 rs78491375 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATC T,C 8.236e-06 15:62750425 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00003652593 synonymous_variant 0.326589 0.96001 0.50697 0.706298 0.578225838464109 0 0.999853230773704 TRUE NA ENSE00001099953_012 ENSE00001099953 012 15 63042556 63042725 + 45 90 35 C T 63042697 1246 142 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGATTGCCTATGCCGTAAGTCAGAAGTTAGCA 62750356 62750526 62750497 62750498 62750498 downstr_intron 7 1.20588235294118 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGATTGCCTATGCCGTAAGTCAGAAGTTAGCA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA mutant NA NA NA NA NA 198 48 0.979500945365225 1 0.989750472682613 NA NA 0.997771615599489 0.994181561815159 NA NA -0.0182706702342642 0.00581843818484129 NA 0.995976588707324 NA -0.00622611602471146 NA FALSE NA 0 -1.008 . splice_region_variant&intron_variant LOW TLN2 HGNC 15447 ENST00000494733 7/31 rs377014915 1 NA T:0.0002 T:0 ACT C,T 2.471e-05 15:62750498 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00003652593 splice_region_variant 1.346497 0.20742 0.02076 0.06567 0.706785727960201 0.087881 0.999853230773704 TRUE 1.21848e-05 ENSE00001099953_013 ENSE00001099953 013 15 63042556 63042725 + 45 90 35 G A 63042699 1247 144 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTACCTATGCCGTAAGTCAGAAGTTAGCA 62750356 62750526 62750499 62750500 62750500 downstr_intron 9 1.26470588235294 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTACCTATGCCGTAAGTCAGAAGTTAGCA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA mutant NA NA NA NA NA 891 1443 0.990756300816109 0.998556218072487 0.994656259444298 NA NA 0.997771615599489 0.994181561815159 NA NA -0.00701531478338047 0.00437465625732858 NA 0.995976588707324 NA -0.00132032926302594 NA FALSE NA 0 -0.226 . intron_variant MODIFIER TLN2 HGNC 15447 ENST00000494733 7/31 1 NA TGC G,A 8.236e-06 15:62750500 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00003652593 intron_variant 0.057732 0.23338 0.03431 0.06567 0.407679002196156 0.0527663 0.999853230773704 TRUE 4.06171e-06 ENSE00001099953_015 ENSE00001099953 015 15 63042556 63042725 + 45 90 35 G A 63042708 1249 153 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCATAAGTCAGAAGTTAGCA 62750356 62750526 62750508 62750509 62750509 downstr_intron 18 1.52941176470588 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCATAAGTCAGAAGTTAGCA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA mutant NA NA NA NA NA 81 64 0.995863190481628 1 0.997931595240814 NA NA 0.997771615599489 0.994181561815159 NA NA -0.00190842511786149 0.00581843818484129 NA 0.995976588707324 NA 0.0019550065334899 NA FALSE NA 0 -3.9 . intron_variant MODIFIER TLN2 HGNC 15447 ENST00000494733 7/31 1 NA CGT G,A 8.236e-06 15:62750509 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00003652593 intron_variant -0.711439 0.08049 0.00381 0.06567 0.473099442500079 0.0527663 0.999853230773704 TRUE 1.21885e-05 ENSE00001099953_017 ENSE00001099953 017 15 63042556 63042725 + 45 90 35 A G 63042715 1251 160 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCGGAAGTTAGCA 62750356 62750526 62750515 62750516 62750516 downstr_intron 25 1.73529411764706 TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCGGAAGTTAGCA TCTATGACATTTGCTTGCTTTTTATGTTGTGTTCTTCTTCTGTAGACTGTGAAGGGGATGTTGGACAATCCTAATGAACCTGTTAGTGACCTCTCTTACTTTGACTGCATTGAGAGTGTGATGGAAAACTCCAAGGTAAGACTGCCTATGCCGTAAGTCAGAAGTTAGCA mutant NA NA NA NA NA 293 337 1 1 1 NA NA 0.997771615599489 0.994181561815159 NA NA 0.00222838440051087 0.00581843818484129 NA 0.995976588707324 NA 0.00402341129267608 NA FALSE NA 0 -0.778 NA NA NA TLN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:62750516 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00003652593 intron_variant -0.013798 0.17244 0.00345 0.06567 0.345200255919564 0.0521688 0.999853230773704 TRUE 4.06296e-06 ENSE00001100547_000 ENSE00001100547 000 11 12257668 12257837 + 56 69 45 NA NA NA NA NA GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 NA NA NA NA NA NA GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC natural NA NA NA NA NA 917 213 0.866275573485491 0.973087326270804 0.919681449878147 NA NA 0.866275573485491 0.973087326270804 NA NA 0 0 NA 0.919681449878147 NA 0 NA FALSE NA NA NA NA NA NA MICAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MICAL2 NA NA NA ENSG00000133816 ENSE00003693474 NA NA NA NA NA NA NA 0.132223746243123 FALSE NA ENSE00001100547_001 ENSE00001100547 001 11 12257668 12257837 + 56 69 45 G A 12257683 427 16 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACTAAGGGCTTCAGTCCC 12236120 12236290 12236135 12236136 12236136 upstr_intron -41 -0.714285714285714 GGGACTGAAGCCCTTAGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 30 152 1 1 1 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133724426514509 0.0269126737291963 NA 0.919681449878147 NA 0.0803185501218525 NA FALSE NA 0 -0.278 . intron_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 11/15 1 NA TGG G,A 8.236e-06 11:12236136 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 intron_variant 0.365912 0.20781 0.05974 0.119485 0.723952652257879 0.0539378 0.132223746243123 FALSE 1.62692e-05 ENSE00001100547_002 ENSE00001100547 002 11 12257668 12257837 + 56 69 45 T C 12257685 428 18 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCGCCAAGGGCTTCAGTCCC 12236120 12236290 12236137 12236138 12236138 upstr_intron -39 -0.678571428571429 GGGACTGAAGCCCTTGGCGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 21 73 1 1 1 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133724426514509 0.0269126737291963 NA 0.919681449878147 NA 0.0803185501218525 NA FALSE NA 0 -1.623 . intron_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 11/15 1 NA GTG T,C 8.236e-06 11:12236138 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 intron_variant -0.15342 0.14068 0.01871 0.119485 0.310822550609587 0.0539378 0.132223746243123 FALSE 4.06653e-06 ENSE00001100547_003 ENSE00001100547 003 11 12257668 12257837 + 56 69 45 C T 12257690 429 23 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGAGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236142 12236143 12236143 upstr_intron -34 -0.589285714285714 GGGACTGAAGCCCTTGGTGGCCTCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 305 343 1 0.972472551294185 0.986236275647092 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133724426514509 -0.000614774976618992 NA 0.919681449878147 NA 0.0665548257689449 NA FALSE NA 0 0.085 . intron_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 11/15 rs199904735 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0.0001 CCC C,T 9.06e-05 11:12236143 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 intron_variant 0.593367 0.24397 0.086 0.119485 0.569190254216378 0.0794893 0.132223746243123 FALSE 6.50295e-05 ENSE00001100547_005 ENSE00001100547 005 11 12257668 12257837 + 56 69 45 G C 12257694 431 27 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTGTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236146 12236147 12236147 upstr_intron -30 -0.517857142857143 GGGACTGAAGCCCTTGGTGGCCCCCACAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 116 22 1 0.913887497202575 0.956943748601287 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133724426514509 -0.0591998290682291 NA 0.919681449878147 NA 0.0372622987231399 NA FALSE NA 0.015 1.482 . intron_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 11/15 rs374695318 1 NA C:0 C:0.0001 AGA G,C 4.942e-05 11:12236147 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 intron_variant 0.076009 0.28757 0.29405 0.114469 0.620478265774765 0.0794893 0.132223746243123 FALSE 6.50132e-05 ENSE00001100547_006 ENSE00001100547 006 11 12257668 12257837 + 56 69 45 T C 12257704 432 37 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCGGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236156 12236157 12236157 upstr_intron -20 -0.339285714285714 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCCGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 58 110 1 0.955871178212046 0.977935589106023 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133724426514509 -0.0172161480587575 NA 0.919681449878147 NA 0.0582541392278756 NA FALSE NA 0 -0.43 . intron_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 11/15 1 NA CTG T,C 8.236e-06 11:12236157 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 intron_variant -0.001029 0.24006 0.09451 0.114469 0.435038151766309 0.0795377 0.132223746243123 FALSE 4.0623e-06 ENSE00001100547_007 ENSE00001100547 007 11 12257668 12257837 + 56 69 45 C T 12257738 433 71 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCAGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236190 12236191 12236191 exon 15 0.217391304347826 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACTGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 531 1612 0.99441429912429 0.998330734497544 0.996372516810917 NA NA 0.866275573485491 0.973087326270804 NA NA 0.128138725638798 0.02524340822674 NA 0.919681449878147 NA 0.0766910669327692 NA FALSE NA 0 -3.872 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:12236191 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 synonymous_variant 1.36679 0.12177 0.01768 0.722319 0.763675812202673 0 0.132223746243123 FALSE 5.27936e-05 ENSE00001100547_008 ENSE00001100547 008 11 12257668 12257837 + 56 69 45 C G 12257738 434 71 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCCGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236190 12236191 12236191 exon 15 0.217391304347826 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACGGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 940 121 0.999561373847892 1 0.999780686923946 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133285800362401 0.0269126737291963 NA 0.919681449878147 NA 0.0800992370457987 NA FALSE NA 0 -3.872 NA NA NA MICAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MICAL2 NA NA NA ENSG00000133816 ENSE00003693474 synonymous_variant 0.939913 0.13018 0.01997 0.722319 0.590298804383907 0 0.132223746243123 FALSE 2.43663e-05 ENSE00001100547_010 ENSE00001100547 010 11 12257668 12257837 + 56 69 45 G A 12257742 436 75 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTTTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236194 12236195 12236195 exon 19 0.27536231884058 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAAAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 101 355 1 0.991439683423736 0.995719841711868 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133724426514509 0.0183523571529323 NA 0.919681449878147 NA 0.0760383918337205 NA FALSE NA 1 3.989 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 12/16 1 NA AGA G,A 8.236e-06 11:12236195 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 missense_variant 2.50513 0.91788 0.83857 0.722319 0.904993544667243 0 0.132223746243123 FALSE 4.06098e-06 ENSE00001100547_011 ENSE00001100547 011 11 12257668 12257837 + 56 69 45 T G 12257747 437 80 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCCTTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236199 12236200 12236200 exon 24 0.347826086956522 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAAGGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 420 694 0.997323996009127 0.982228839085813 0.98977641754747 NA NA 0.866275573485491 0.973087326270804 NA NA 0.131048422523635 0.00914151281500919 NA 0.919681449878147 NA 0.0700949676693223 NA FALSE NA 0.69 -0.443 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 12/16 1 NA ATG T,G 8.236e-06 11:12236200 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 missense_variant 1.369662 0.85381 0.39827 0.722319 0.942860744372206 0 0.132223746243123 FALSE 4.06101e-06 ENSE00001100547_013 ENSE00001100547 013 11 12257668 12257837 + 56 69 45 C T 12257766 439 99 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCATCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236218 12236219 12236219 exon -27 0.623188405797101 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGATGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 430 130 0.998458568065501 0.998781488135475 0.998620028100488 NA NA 0.866275573485491 0.973087326270804 NA NA 0.132182994580009 0.0256941618646708 NA 0.919681449878147 NA 0.0789385782223401 NA FALSE NA 1 0.976 rs145746384 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 12/16 rs145746384 1 NA T:0.0002 T:0 ACG C,T 1.647e-05 11:12236219 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 missense_variant 8.317913 0.92215 0.75196 0.722319 0.999288031091903 0 0.132223746243123 FALSE 8.12196e-06 ENSE00001100547_014 ENSE00001100547 014 11 12257668 12257837 + 56 69 45 A G 12257778 440 111 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGCGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236230 12236231 12236231 exon -15 0.797101449275362 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCGCCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 208 924 1 0.993125770422723 0.996562885211361 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133724426514509 0.0200384441519192 NA 0.919681449878147 NA 0.076881435333214 NA FALSE NA 0.198 0.873 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 12/16 rs202081792 1 NA G:0 G:0.0006 CAC A,G 0.0001318 11:12236231 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 missense_variant -0.689542 0.30074 0.12153 0.722319 0.835465768629894 0 0.132223746243123 FALSE 0.000174625 ENSE00001100547_015 ENSE00001100547 015 11 12257668 12257837 + 56 69 45 G A 12257787 441 120 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCGTTCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236239 12236240 12236240 exon -6 0.927536231884058 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGAACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 568 369 0.995407695259808 1 0.997703847629904 NA NA 0.866275573485491 0.973087326270804 NA NA 0.129132121774317 0.0269126737291963 NA 0.919681449878147 NA 0.0780223977517567 NA FALSE NA 1 2.604 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 12/16 1 NA GGA G,A 1.647e-05 11:12236240 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 missense_variant 2.152438 0.45959 0.65206 0.722319 0.98048527929435 0 0.132223746243123 FALSE 2.03061e-05 ENSE00001100547_018 ENSE00001100547 018 11 12257668 12257837 + 56 69 45 C T 12257789 444 122 GTCAGGAAACGAGCCTCTGTTTAAAGCCACACTGTGTACACAAACCTCATCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236241 12236242 12236242 exon -4 0.956521739130435 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGATGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 228 1127 1 0.998603371284319 0.999301685642159 NA NA 0.866275573485491 0.973087326270804 NA NA 0.133724426514509 0.025516045013515 NA 0.919681449878147 NA 0.0796202357640119 NA FALSE NA 0.032 -1.887 NA NA NA MICAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:12236242 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 synonymous_variant 1.158724 0.24951 0.03374 0.722319 0.789130048324474 0 0.132223746243123 FALSE 2.43673e-05 ENSE00001100547_020 ENSE00001100547 020 11 12257668 12257837 + 56 69 45 C G 12257812 446 145 GTCAGGAAACGAGCCTCTGTTTAAACCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236264 12236265 12236265 downstr_intron 20 1.45454545454545 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGGTTTAAACAGAGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 205 14 0.993202726422311 1 0.996601363211155 NA NA 0.866275573485491 0.973087326270804 NA NA 0.126927152936819 0.0269126737291963 NA 0.919681449878147 NA 0.0769199133330078 NA FALSE NA 0 -0.07 rs7102049 intron_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 12/15 rs7102049 1 G:0.0685 G:0.2504 G:0.0173 NA G:0 G:0 G:0 G:0.2119 G:0.001 GCT G,G 0.02 11:12236265 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 intron_variant 0.091126 0.09652 0.00113 0.114469 0.521706020859077 0.0843945 0.132223746243123 FALSE 0.0157921 ENSE00001100547_021 ENSE00001100547 021 11 12257668 12257837 + 56 69 45 A G 12257822 447 155 GTCAGGAAACGAGCCCCTGTTTAAAGCCACACTGTGTACACAAACCTCGTCCAGGTTGGTGAAGCCCTTCCGTCTCCGTTTGTTCATGTCATTCTCTCCGGTTTGACCATCCACCTGCAATGGCCAAGAAAGCAGGGTGAGCTCTGGGGGCCACCAAGGGCTTCAGTCCC 12236120 12236290 12236274 12236275 12236275 downstr_intron 30 1.68181818181818 GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGGGGCTCGTTTCCTGAC GGGACTGAAGCCCTTGGTGGCCCCCAGAGCTCACCCTGCTTTCTTGGCCATTGCAGGTGGATGGTCAAACCGGAGAGAATGACATGAACAAACGGAGACGGAAGGGCTTCACCAACCTGGACGAGGTTTGTGTACACAGTGTGGCTTTAAACAGAGGCTCGTTTCCTGAC mutant NA NA NA NA NA 105 1261 0.833994779292189 0.999058901793268 0.916526840542728 NA NA 0.866275573485491 0.973087326270804 NA NA -0.0322807941933027 0.0259715755224643 NA 0.919681449878147 NA -0.00315460933541917 NA FALSE NA 0.213 1.989 . intron_variant&non_coding_transcript_variant MODIFIER MICAL2 HGNC 24693 ENST00000530691 12/15 1 NA GAG A,G 1.648e-05 11:12236275 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003693474 intron_variant 0.163514 0.23914 0.13849 0.114469 0.703864682726691 0.0862878 0.132223746243123 FALSE 1.22161e-05 ENSE00001100892_000 ENSE00001100892 000 11 43940547 43940716 + 41 99 30 NA NA NA NA NA AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 NA NA NA NA NA NA ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT natural 165 240 0.992188949958147 0.994178070252981 0.993183510105564 7950 10938 0.971033806793207 0.993940484284351 0.982487145538779 0.992188949958147 0.994178070252981 0.971033806793207 0.993940484284351 0 0 0 0 0.993183510105564 0.982487145538779 0 0 0 FALSE FALSE NA NA NA NA NA ALKBH3-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALKBH3-AS1 NA NA NA ENSG00000244926 ENSE00003477134 NA NA NA NA NA NA NA NA NA NA ENSE00001100892_BRK ENSE00001100892 BRK 11 43940547 43940716 + 41 99 30 A,G; T,T NA NA NA AGCAGATTCATATTACTTGCAGATCCTCGGCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCAAAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 NA NA NA NA NA NA ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTTTGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGCCGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT control NA NA NA NA NA 35 137 0.948019944270607 0.978633561559794 0.9633267529152 0.992188949958147 0.994178070252981 0.971033806793207 0.993940484284351 NA NA -0.0230138625226003 -0.0153069227245577 0.993183510105564 0.982487145538779 NA -0.019160392623579 NA FALSE NA NA NA NA NA NA ALKBH3-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALKBH3-AS1 NA NA NA ENSG00000244926 ENSE00003477134 NA NA NA NA NA NA NA NA NA NA ENSE00001101050_000 ENSE00001101050 000 11 120707437 120707606 + 63 54 53 NA NA NA NA NA CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 NA NA NA NA NA NA CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG natural NA NA NA NA NA 792 1555 0.99285612009756 0.814550129112476 0.903703124605018 NA NA 0.99285612009756 0.814550129112476 NA NA 0 0 NA 0.903703124605018 NA 0 NA FALSE NA NA NA NA NA NA GRIK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIK4 NA NA NA ENSG00000149403 ENSE00003496394 NA NA NA NA NA NA NA 0.630846158157366 FALSE NA ENSE00001101050_001 ENSE00001101050 001 11 120707437 120707606 + 63 54 53 T G 120707455 2904 19 CTGCTCATTTGCTTCAAGGGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 120836745 120836746 120836746 upstr_intron -45 -0.698412698412698 CTGCTCATTTGCTTCAAGGGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG mutant NA NA NA NA NA 551 375 0.891250672280044 1 0.945625336140022 NA NA 0.99285612009756 0.814550129112476 NA NA -0.101605447817516 0.185449870887524 NA 0.903703124605018 NA 0.0419222115350038 NA FALSE NA 0.001 -0.024 . intron_variant MODIFIER GRIK4 HGNC 4582 ENST00000438375 6/19 1 NA GTG T,G 8.236e-06 11:120836746 GRIK4 HGNC Symbol protein_coding 477204 ENSG00000149403 ENSE00003496394 intron_variant 0.07385 0.22944 0.05387 0.074898 0.639120811475564 0.0726794 0.630846158157366 FALSE 4.07448e-06 ENSE00001101050_003 ENSE00001101050 003 11 120707437 120707606 + 63 54 53 T G 120707480 2906 44 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCGCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 120836770 120836771 120836771 upstr_intron -20 -0.301587301587302 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCGCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG mutant NA NA NA NA NA 220 25 1 1 1 NA NA 0.99285612009756 0.814550129112476 NA NA 0.00714387990244014 0.185449870887524 NA 0.903703124605018 NA 0.096296875394982 NA FALSE NA 0.281 1.015 . intron_variant MODIFIER GRIK4 HGNC 4582 ENST00000438375 6/19 1 NA CTC T,G 8.236e-06 11:120836771 GRIK4 HGNC Symbol protein_coding 477204 ENSG00000149403 ENSE00003496394 intron_variant 2.416499 0.96547 0.50805 0.074898 0.902242111252884 0.357118 0.630846158157366 FALSE NA ENSE00001101050_005 ENSE00001101050 005 11 120707437 120707606 + 63 54 53 T C 120707484 2908 48 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTCCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 120836774 120836775 120836775 upstr_intron -16 -0.238095238095238 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTCCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG mutant NA NA NA NA NA 357 938 1 0.985821208371047 0.992910604185524 NA NA 0.99285612009756 0.814550129112476 NA NA 0.00714387990244014 0.171271079258571 NA 0.903703124605018 NA 0.0892074795805055 NA FALSE NA 0.998 2.868 . intron_variant MODIFIER GRIK4 HGNC 4582 ENST00000438375 6/19 1 NA TTC T,C 1.647e-05 11:120836775 GRIK4 HGNC Symbol protein_coding 477204 ENSG00000149403 ENSE00003496394 intron_variant 2.493261 0.98219 0.95896 0.074898 0.862210371431915 0.357118 0.630846158157366 FALSE 4.06266e-06 ENSE00001101050_010 ENSE00001101050 010 11 120707437 120707606 + 63 54 53 G A 120707506 2913 70 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCAAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 120836796 120836797 120836797 exon 7 0.12962962962963 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCAAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG mutant NA NA NA NA NA 385 821 0.991533615672249 0.994363779833543 0.992948697752896 NA NA 0.99285612009756 0.814550129112476 NA NA -0.00132250442531123 0.179813650721066 NA 0.903703124605018 NA 0.0892455731478776 NA FALSE NA 1 9.265 . missense_variant MODERATE GRIK4 HGNC 4582 ENST00000438375 7/20 COSM1351945 1 tolerated(0.08) possibly_damaging(0.672) NA CGA G,A 8.236e-06 11:120836797 GRIK4 HGNC Symbol protein_coding 477204 ENSG00000149403 ENSE00003496394 missense_variant 6.157227 0.99563 0.99688 0.553676 0.999051515503151 0 0.630846158157366 FALSE 4.06213e-06 ENSE00001101050_011 ENSE00001101050 011 11 120707437 120707606 + 63 54 53 A G 120707535 2914 99 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACGTACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 120836825 120836826 120836826 exon -19 0.666666666666667 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACGTACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG mutant NA NA NA NA NA 536 413 0.991602939780219 1 0.99580146989011 NA NA 0.99285612009756 0.814550129112476 NA NA -0.00125318031734079 0.185449870887524 NA 0.903703124605018 NA 0.0920983452850915 NA FALSE NA 0.935 0.142 . synonymous_variant LOW GRIK4 HGNC 4582 ENST00000438375 7/20 1 NA CAT A,G 8.236e-06 11:120836826 GRIK4 HGNC Symbol protein_coding 477204 ENSG00000149403 ENSE00003496394 synonymous_variant 0.305318 0.97405 0.76776 0.553676 0.751561578418666 0 0.630846158157366 FALSE 8.12539e-06 ENSE00001101050_012 ENSE00001101050 012 11 120707437 120707606 + 63 54 53 C T 120707544 2915 108 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTTACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 120836834 120836835 120836835 exon -10 0.833333333333333 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTTACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG mutant NA NA NA NA NA 879 359 0.992747284988255 1 0.996373642494128 NA NA 0.99285612009756 0.814550129112476 NA NA -0.000108835109304817 0.185449870887524 NA 0.903703124605018 NA 0.0926705178891095 NA FALSE NA 1 2.875 rs145589190 synonymous_variant LOW GRIK4 HGNC 4582 ENST00000438375 7/20 rs145589190 1 NA T:0.0002 T:0 TCA C,T 8.236e-06 11:120836835 GRIK4 HGNC Symbol protein_coding 477204 ENSG00000149403 ENSE00003496394 synonymous_variant 1.555562 0.99371 0.98678 0.638212 0.826816877589859 0 0.630846158157366 FALSE 1.21877e-05 ENSE00001101050_013 ENSE00001101050 013 11 120707437 120707606 + 63 54 53 G A 120707554 2916 118 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGATAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 120836844 120836845 120836845 downstr_intron 1 1.01923076923077 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGATAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG mutant NA NA NA NA NA 488 2792 0.00939550591949571 0.00885484459733747 0.00912517525841659 NA NA 0.99285612009756 0.814550129112476 NA NA -0.983460614178064 -0.805695284515139 NA 0.903703124605018 NA -0.894577949346602 NA TRUE NA 1 9.477 . splice_donor_variant HIGH GRIK4 HGNC 4582 ENST00000438375 7/19 1 NA HC GGT G,A 8.236e-06 11:120836845 GRIK4 HGNC Symbol protein_coding 477204 ENSG00000149403 ENSE00003496394 splice_donor_variant 5.718323 0.99692 0.99849 0.074636 0.995340202958904 0.983196 0.630846158157366 FALSE 4.06382e-06 ENSE00001101050_014 ENSE00001101050 014 11 120707437 120707606 + 63 54 53 C G 120707575 2917 139 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCAGCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG 120836727 120836897 120836865 120836866 120836866 downstr_intron 22 1.42307692307692 CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCAGCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG CTGCTCATTTGCTTCAAGTGAGTTTTTGTTTTCTTCTCTAATCTCCTTCTCTTCGCCTTGCAGGCAGCCGAACTTGGGATGGTGTCAGCCTATTACACATACATCTTCACTAATCTGGTAAGATGTTCTCACAGCTCACCTCCTTGGAAGAGAGTGTTGTCAGTGGTCAG mutant NA NA NA NA NA 15 390 0.8 0.99951059549125 0.899755297745625 NA NA 0.99285612009756 0.814550129112476 NA NA -0.19285612009756 0.184960466378774 NA 0.903703124605018 NA -0.00394782685939316 NA FALSE NA 0 0.465 . intron_variant MODIFIER GRIK4 HGNC 4582 ENST00000438375 7/19 1 NA ACC C,G 8.236e-06 11:120836866 GRIK4 HGNC Symbol protein_coding 477204 ENSG00000149403 ENSE00003496394 intron_variant 1.545617 0.35648 0.19014 0.074636 0.577864568461938 0.685521 0.630846158157366 FALSE 8.141e-06 ENSE00001101077_000 ENSE00001101077 000 10 72489002 72489171 + 48 84 38 NA NA NA NA NA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 NA NA NA NA NA NA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA natural 35 45 0.85 0.9543263188155 0.90216315940775 1794 641 0.89683518537541 0.96920706969637 0.93302112753589 0.85 0.9543263188155 0.89683518537541 0.96920706969637 0 0 0 0 0.90216315940775 0.93302112753589 0 0 0 FALSE FALSE NA NA NA NA NA ADAMTS14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS14 NA NA NA ENSG00000138316 ENSE00001101077 NA NA NA NA NA NA NA 2.33178919110162e-06 FALSE NA ENSE00001101077_002 ENSE00001101077 002 10 72489002 72489171 + 48 84 38 A G 72489048 1562 47 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCGGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729291 70729292 70729292 upstr_intron -2 -0.0208333333333333 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCGGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 192 228 0.00512202769559504 0.0343294376508697 0.0197257326732324 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA -0.891713157679815 -0.9348776320455 0.90216315940775 0.93302112753589 NA -0.913295394862657 NA TRUE NA 1 8.763 . splice_acceptor_variant HIGH ADAMTS14 HGNC 14899 ENST00000373208 4/21 1 NA HC CAG A,G 4.118e-05 10:70729292 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 splice_acceptor_variant 4.811591 0.99421 0.99717 0.053691 0.995107263538556 0.968641 2.33178919110162e-06 FALSE 3.65461e-05 ENSE00001101077_003 ENSE00001101077 003 10 72489002 72489171 + 48 84 38 A T 72489063 1563 62 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTTCCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729306 70729307 70729307 exon 14 0.166666666666667 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTTCCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 83 153 0.940783566831204 0.993797942580439 0.967290754705822 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.0439483814557943 0.0245908728840695 0.90216315940775 0.93302112753589 NA 0.0342696271699319 NA FALSE NA 1 8.763 . missense_variant MODERATE ADAMTS14 HGNC 14899 ENST00000373208 5/22 1 deleterious(0.01) possibly_damaging(0.656) NA TAC A,T 8.236e-06 10:70729307 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 missense_variant 5.325422 0.99437 0.99741 0.554377 0.981703861562884 0 2.33178919110162e-06 FALSE 4.06058e-06 ENSE00001101077_004 ENSE00001101077 004 10 72489002 72489171 + 48 84 38 C T 72489067 1564 66 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCATGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729310 70729311 70729311 exon 18 0.214285714285714 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCATGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant 121 454 0.845456704683734 0.85 0.847728352341867 NA NA NA NA NA 0.85 0.9543263188155 0.89683518537541 0.96920706969637 -0.00454329531626596 -0.1043263188155 NA NA 0.90216315940775 0.93302112753589 -0.0544348070658831 NA NA NA FALSE 0 -2.221 rs35906753 synonymous_variant LOW ADAMTS14 HGNC 14899 ENST00000373208 5/22 rs35906753 1 T:0.0024 T:0.0091 T:0 NA T:0 T:0 T:0 T:0.007 T:0 ACG C,T 0.0007578 10:70729311 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 synonymous_variant 1.442429 0.76424 0.03535 0.615465 0.500163134102688 0 2.33178919110162e-06 FALSE 0.000572542 ENSE00001101077_005 ENSE00001101077 005 10 72489002 72489171 + 48 84 38 G A 72489068 1565 67 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACAATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729311 70729312 70729312 exon 19 0.226190476190476 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACAATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant 11 12 0.85 0.85 0.85 88 1201 0.740148316405212 0.803609882981516 0.771879099693364 0.85 0.9543263188155 0.89683518537541 0.96920706969637 0 -0.1043263188155 -0.156686868970198 -0.165597186714854 0.90216315940775 0.93302112753589 -0.0521631594077501 -0.161142027842526 0.108978868434776 FALSE FALSE 1 9.265 . missense_variant MODERATE ADAMTS14 HGNC 14899 ENST00000373208 5/22 COSM1181850 1 deleterious(0) probably_damaging(0.999) NA CGA G,A 2.471e-05 10:70729312 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 missense_variant 7.034918 0.99535 0.99724 0.554377 0.999094377927815 0 2.33178919110162e-06 FALSE 2.84241e-05 ENSE00001101077_006 ENSE00001101077 006 10 72489002 72489171 + 48 84 38 T A 72489070 1566 69 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGAAGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729313 70729314 70729314 exon 21 0.25 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGAAGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 1075 351 0.98945352087826 0.999331269862615 0.994392395370438 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.0926183355028505 0.0301242001662451 0.90216315940775 0.93302112753589 NA 0.0613712678345478 NA FALSE NA 0.045 -0.662 . missense_variant MODERATE ADAMTS14 HGNC 14899 ENST00000373208 5/22 1 deleterious(0.01) probably_damaging(0.999) NA ATG T,A 2.471e-05 10:70729314 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 missense_variant 3.843184 0.61248 0.38192 0.554377 0.992500896456784 0 2.33178919110162e-06 FALSE 1.21818e-05 ENSE00001101077_008 ENSE00001101077 008 10 72489002 72489171 + 48 84 38 G A 72489082 1568 81 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGAGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729325 70729326 70729326 exon 33 0.392857142857143 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGAGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 73 319 1 0.995963358312007 0.997981679156004 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.10316481462459 0.0267562886156374 0.90216315940775 0.93302112753589 NA 0.0649605516201138 NA FALSE NA 0 -1.634 rs141048259 synonymous_variant LOW ADAMTS14 HGNC 14899 ENST00000373208 5/22 rs141048259 1 A:0.0000 A:0 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGG G,A 0.0001318 10:70729326 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 synonymous_variant -0.204345 0.13152 0.04936 0.615465 0.487503503917821 0 2.33178919110162e-06 FALSE 0.000203029 ENSE00001101077_009 ENSE00001101077 009 10 72489002 72489171 + 48 84 38 G A 72489083 1569 82 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGATTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729326 70729327 70729327 exon 34 0.404761904761905 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGATTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 120 87 1 0.99642194685304 0.99821097342652 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.10316481462459 0.02721487715667 0.90216315940775 0.93302112753589 NA 0.0651898458906301 NA FALSE NA 0.001 0.927 rs140471498 missense_variant MODERATE ADAMTS14 HGNC 14899 ENST00000373208 5/22 rs140471498 1 deleterious(0.04) benign(0.1) NA A:0.0002 A:0 GGT G,A 1.647e-05 10:70729327 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 missense_variant 1.760291 0.34035 0.15346 0.615465 0.985895791456885 0 2.33178919110162e-06 FALSE 8.12117e-06 ENSE00001101077_012 ENSE00001101077 012 10 72489002 72489171 + 48 84 38 A G 72489089 1572 88 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATGTAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729332 70729333 70729333 exon 40 0.476190476190476 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATGTAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 92 53 0.999551820122974 1 0.999775910061487 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.102716634747564 0.0307929303036303 0.90216315940775 0.93302112753589 NA 0.066754782525597 NA FALSE NA 1 3.397 . missense_variant MODERATE ADAMTS14 HGNC 14899 ENST00000373208 5/22 COSM920034 1 tolerated(0.07) benign(0.03) NA TAT A,G 8.236e-06 10:70729333 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 missense_variant 0.227161 0.9792 0.92813 0.554377 0.678868363674126 0 2.33178919110162e-06 FALSE 4.06058e-06 ENSE00001101077_015 ENSE00001101077 015 10 72489002 72489171 + 48 84 38 C T 72489103 1575 102 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTTGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729346 70729347 70729347 exon -31 0.642857142857143 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTTGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 33 57 0.8 0.956693771671729 0.878346885835865 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA -0.0968351853754098 -0.0125132980246407 0.90216315940775 0.93302112753589 NA -0.0546742417000253 NA FALSE NA 0.016 -1.614 rs143037838 synonymous_variant LOW ADAMTS14 HGNC 14899 ENST00000373208 5/22 rs143037838&COSM1348854 1 NA T:0.0002 T:0.0001 TCG C,T 0.0001318 10:70729347 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 synonymous_variant 1.79858 0.88624 0.04053 0.615465 0.767369956234657 0 2.33178919110162e-06 FALSE 0.000133999 ENSE00001101077_016 ENSE00001101077 016 10 72489002 72489171 + 48 84 38 G A 72489104 1576 103 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCATCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729347 70729348 70729348 exon -30 0.654761904761905 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCATCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 466 472 0.992995207054237 0.999108121645104 0.996051664349671 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.0961600216788271 0.0299010519487344 0.90216315940775 0.93302112753589 NA 0.0630305368137807 NA FALSE NA 1 9.265 . missense_variant MODERATE ADAMTS14 HGNC 14899 ENST00000373208 5/22 rs543657491&COSM1348855 1 deleterious(0.01) probably_damaging(0.999) A:0.0012 A:0 A:0 NA A:0 A:0 A:0.0061 CGT G,A 0.0005436 10:70729348 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 missense_variant 6.587991 0.9947 0.99488 0.615465 0.998948614503741 0 2.33178919110162e-06 FALSE 0.000503516 ENSE00001101077_017 ENSE00001101077 017 10 72489002 72489171 + 48 84 38 C T 72489107 1577 106 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCTGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729350 70729351 70729351 exon -27 0.69047619047619 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCTGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant 83 246 0.85 0.85 0.85 96 33 0.801677194383894 0.8 0.800838597191947 0.85 0.9543263188155 0.89683518537541 0.96920706969637 0 -0.1043263188155 -0.0951579909915159 -0.16920706969637 0.90216315940775 0.93302112753589 -0.0521631594077501 -0.132182530343943 0.0800193709361927 FALSE FALSE 1 3.675 NA NA NA ADAMTS14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:70729351 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 missense_variant 7.900641 0.98964 0.97032 0.615465 0.999455378948181 0 2.33178919110162e-06 FALSE 1.62427e-05 ENSE00001101077_019 ENSE00001101077 019 10 72489002 72489171 + 48 84 38 G A 72489108 1579 107 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCACTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729351 70729352 70729352 exon -26 0.702380952380952 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCACTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 746 13 0.997861994015799 0.984368233483076 0.991115113749437 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.101026808640389 0.0151611637867061 0.90216315940775 0.93302112753589 NA 0.0580939862135474 NA FALSE NA 1 9.265 . missense_variant MODERATE ADAMTS14 HGNC 14899 ENST00000373208 5/22 rs201922304 1 deleterious(0) probably_damaging(1) A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 A:0 A:0.0001 CGC G,A 2.471e-05 10:70729352 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 missense_variant 7.511205 0.9947 0.99488 0.615465 0.999545952845768 0 2.33178919110162e-06 FALSE 2.43639e-05 ENSE00001101077_020 ENSE00001101077 020 10 72489002 72489171 + 48 84 38 C T 72489109 1580 108 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGTTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729352 70729353 70729353 exon -25 0.714285714285714 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGTTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 320 46 0.993715027940261 1 0.99685751397013 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.0968798425648508 0.0307929303036303 0.90216315940775 0.93302112753589 NA 0.0638363864342406 NA FALSE NA 0.702 -0.114 rs145120858 synonymous_variant LOW ADAMTS14 HGNC 14899 ENST00000373208 5/22 rs145120858 1 NA T:0 T:0.001 GCT C,T 0.0008319 10:70729353 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 synonymous_variant 1.543259 0.93133 0.66395 0.615465 0.641651324373841 0 2.33178919110162e-06 FALSE 0.000771511 ENSE00001101077_022 ENSE00001101077 022 10 72489002 72489171 + 48 84 38 A T 72489136 1582 135 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTTAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729379 70729380 70729380 downstr_intron 3 1.08108108108108 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTTAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 277 41 0.0156464185829605 0 0.00782320929148023 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA -0.881188766792449 -0.96920706969637 0.90216315940775 0.93302112753589 NA -0.92519791824441 NA TRUE NA 1 2.69 . splice_region_variant&intron_variant LOW ADAMTS14 HGNC 14899 ENST00000373208 5/21 1 NA TAA A,T 8.236e-06 10:70729380 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 splice_region_variant 1.508755 0.97615 0.94141 0.053691 0.905479953280579 0.238517 2.33178919110162e-06 FALSE 8.12123e-06 ENSE00001101077_023 ENSE00001101077 023 10 72489002 72489171 + 48 84 38 C T 72489139 1583 138 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAATCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729382 70729383 70729383 downstr_intron 6 1.16216216216216 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAATCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 700 458 0.988858404762397 1 0.994429202381198 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.0920232193869872 0.0307929303036303 0.90216315940775 0.93302112753589 NA 0.0614080748453087 NA FALSE NA 0.001 0.004 . splice_region_variant&intron_variant LOW ADAMTS14 HGNC 14899 ENST00000373208 5/21 1 NA ACC C,T 4.118e-05 10:70729383 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 splice_region_variant 0.545163 0.19574 0.04404 0.053691 0.462970012266292 0.151315 2.33178919110162e-06 FALSE 3.65456e-05 ENSE00001101077_025 ENSE00001101077 025 10 72489002 72489171 + 48 84 38 A G 72489141 1585 140 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCGCCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 70729384 70729385 70729385 downstr_intron 8 1.21621621621622 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCGCCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 793 13 0.999688208700327 1 0.999844104350164 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.102853023324917 0.0307929303036303 0.90216315940775 0.93302112753589 NA 0.0668229768142737 NA FALSE NA 0 -1.7 . splice_region_variant&intron_variant LOW ADAMTS14 HGNC 14899 ENST00000373208 5/21 1 NA CAC A,G 8.236e-06 10:70729385 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 splice_region_variant 0.108748 0.1494 0.00682 0.053691 0.459726544405384 0.151315 2.33178919110162e-06 FALSE 4.06072e-06 ENSE00001101077_026 ENSE00001101077 026 10 72489002 72489171 + 48 84 38 G T 72489154 1586 153 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGTCAGGGTTTGCGGGGAGA 70729245 70729415 70729397 70729398 70729398 downstr_intron 21 1.56756756756757 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGTCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 311 172 1 1 1 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.10316481462459 0.0307929303036303 0.90216315940775 0.93302112753589 NA 0.0669788724641102 NA FALSE NA 0.046 -0.062 . intron_variant MODIFIER ADAMTS14 HGNC 14899 ENST00000373208 5/21 1 NA GGC G,T 8.236e-06 10:70729398 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 intron_variant 0.086884 0.26888 0.02018 0.053691 0.621820695041801 0.152352 2.33178919110162e-06 FALSE 4.06108e-06 ENSE00001101077_028 ENSE00001101077 028 10 72489002 72489171 + 48 84 38 G C 72489158 1588 157 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGCGTTTGCGGGGAGA 70729245 70729415 70729401 70729402 70729402 downstr_intron 25 1.67567567567568 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGCGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 564 33 1 0.99517694653725 0.997588473268625 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.10316481462459 0.0259698768408801 0.90216315940775 0.93302112753589 NA 0.0645673457327351 NA FALSE NA 0 0.134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:70729402 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 intron_variant -0.4113 0.17403 0.06673 0.053691 0.440824613165901 0.152352 2.33178919110162e-06 FALSE 8.12262e-06 ENSE00001101077_029 ENSE00001101077 029 10 72489002 72489171 + 48 84 38 G A 72489158 1589 157 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGAGTTTGCGGGGAGA 70729245 70729415 70729401 70729402 70729402 downstr_intron 25 1.67567567567568 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGAGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant 19 13 0.966442235389198 1 0.983221117694599 NA NA NA NA NA 0.85 0.9543263188155 0.89683518537541 0.96920706969637 0.116442235389198 0.0456736811844998 NA NA 0.90216315940775 0.93302112753589 0.0810579582868491 NA NA NA FALSE 0 0.134 NA NA NA ADAMTS14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS14 NA NA NA ENSG00000138316 ENSE00001101077 intron_variant 0.032863 0.19037 0.08943 0.053691 0.532489264617618 0.152352 2.33178919110162e-06 FALSE 8.12262e-06 ENSE00001101077_030 ENSE00001101077 030 10 72489002 72489171 + 48 84 38 G T 72489159 1590 158 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGTTTTGCGGGGAGA 70729245 70729415 70729402 70729403 70729403 downstr_intron 26 1.7027027027027 GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGTTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA mutant NA NA NA NA NA 113 346 0.991761212512101 1 0.995880606256051 0.85 0.9543263188155 0.89683518537541 0.96920706969637 NA NA 0.0949260271366915 0.0307929303036303 0.90216315940775 0.93302112753589 NA 0.0628594787201609 NA FALSE NA 0 -0.511 . intron_variant MODIFIER ADAMTS14 HGNC 14899 ENST00000373208 5/21 1 NA GGT G,T 8.236e-06 10:70729403 ADAMTS14 HGNC Symbol protein_coding 89638 ENSG00000138316 ENSE00001101077 intron_variant -0.287842 0.16584 0.05029 0.053691 0.514983210872688 0.152352 2.33178919110162e-06 FALSE 4.06161e-06 ENSE00001101077_BRK ENSE00001101077 BRK 10 72489002 72489171 + 48 84 38 A,G; T,T NA NA NA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCTTGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGCCAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA 70729245 70729415 NA NA NA NA NA NA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCTTGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGCCAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA GCTTGTAATGAATGTTTCCTTCCCTTAAACTGTATTTTCTTCTTGCAGGTAGATGAGATTTACCACGATGAGTCCCTGGGGGTTCATATAAATATTGCCCTCGTCCGCTTGATCATGGTTGGCTACCGACAGGTAAACCACCTTGTCAGCAGGCAGGGTTTGCGGGGAGA control 68 16 0 0 0 158 43 0 0 0 0.85 0.9543263188155 0.89683518537541 0.96920706969637 -0.85 -0.9543263188155 -0.89683518537541 -0.96920706969637 0.90216315940775 0.93302112753589 -0.90216315940775 -0.93302112753589 0.0308579681281396 TRUE TRUE NA NA NA NA NA ADAMTS14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS14 NA NA NA ENSG00000138316 ENSE00001101077 NA NA NA NA NA NA NA 2.33178919110162e-06 FALSE NA ENSE00001101217_000 ENSE00001101217 000 12 69979997 69980166 + 53 75 42 NA NA NA NA NA ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 NA NA NA NA NA NA ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG natural NA NA NA NA NA 3320 3877 0.976226720264833 0.965958468263684 0.971092594264259 NA NA 0.976226720264833 0.965958468263684 NA NA 0 0 NA 0.971092594264259 NA 0 NA FALSE NA NA NA NA NA NA CCT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCT2 NA NA NA ENSG00000166226 ENSE00003494988 NA NA NA NA NA NA NA 0.999501007213571 TRUE NA ENSE00001101217_001 ENSE00001101217 001 12 69979997 69980166 + 53 75 42 T C 69980011 2435 15 ATGTGTTAGAGTATCGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586230 69586231 69586231 upstr_intron -39 -0.716981132075472 ATGTGTTAGAGTATCGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 537 116 0.999923339266394 0.998634160607666 0.999278749937029 NA NA 0.976226720264833 0.965958468263684 NA NA 0.0236966190015609 0.032675692343981 NA 0.971092594264259 NA 0.028186155672771 NA FALSE NA 0 0.15 . intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 1/14 rs200874735 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTG T,C 8.236e-06 12:69586231 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 0.394566 0.37511 0.0398 0.08998 0.518847308709059 0.0839166 0.999501007213571 TRUE 4.06481e-06 ENSE00001101217_003 ENSE00001101217 003 12 69979997 69980166 + 53 75 42 C T 69980022 2437 26 ATGTGTTAGAGTATTGGTACTTAAATGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586241 69586242 69586242 upstr_intron -28 -0.509433962264151 ATGTGTTAGAGTATTGGTACTTAAATGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 533 1218 0.994996313726633 0.996739865851008 0.99586808978882 NA NA 0.976226720264833 0.965958468263684 NA NA 0.0187695934618 0.0307813975873236 NA 0.971092594264259 NA 0.0247754955245618 NA FALSE NA 0 0.549 . intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 1/14 1 NA ACG C,T 8.236e-06 12:69586242 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 0.494485 0.24744 0.03789 0.08998 0.511001980051854 0.0658226 0.999501007213571 TRUE 4.06349e-06 ENSE00001101217_004 ENSE00001101217 004 12 69979997 69980166 + 53 75 42 A G 69980026 2438 30 ATGTGTTAGAGTATTGGTACTTAAACGGAGTGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586245 69586246 69586246 upstr_intron -24 -0.433962264150943 ATGTGTTAGAGTATTGGTACTTAAACGGAGTGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 1901 1055 0.99700383614803 0.998175715138765 0.997589775643397 NA NA 0.976226720264833 0.965958468263684 NA NA 0.020777115883197 0.0322172468750808 NA 0.971092594264259 NA 0.0264971813791389 NA FALSE NA 0 -0.543 . intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 1/14 1 NA AAT A,G 8.236e-06 12:69586246 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 0.410942 0.22664 0.01825 0.08998 0.412638270688948 0.0584882 0.999501007213571 TRUE 4.062e-06 ENSE00001101217_005 ENSE00001101217 005 12 69979997 69980166 + 53 75 42 T C 69980027 2439 31 ATGTGTTAGAGTATTGGTACTTAAACGGAACGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586246 69586247 69586247 upstr_intron -23 -0.415094339622642 ATGTGTTAGAGTATTGGTACTTAAACGGAACGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 399 332 0.974093855852866 0.999523339410049 0.986808597631458 NA NA 0.976226720264833 0.965958468263684 NA NA -0.00213286441196614 0.0335648711463643 NA 0.971092594264259 NA 0.0157160033671991 NA FALSE NA 0 0.015 . intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 1/14 1 NA ATG T,C 1.647e-05 12:69586247 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 0.3212 0.2834 0.07732 0.08998 0.377622906409854 0.0584882 0.999501007213571 TRUE 1.21867e-05 ENSE00001101217_006 ENSE00001101217 006 12 69979997 69980166 + 53 75 42 G A 69980028 2440 32 ATGTGTTAGAGTATTGGTACTTAAACGGAATACCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586247 69586248 69586248 upstr_intron -22 -0.39622641509434 ATGTGTTAGAGTATTGGTACTTAAACGGAATACCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 1235 97 0.954270966906313 0.986727526706169 0.970499246806241 NA NA 0.976226720264833 0.965958468263684 NA NA -0.0219557533585198 0.0207690584424842 NA 0.971092594264259 NA -0.000593347458017812 NA FALSE NA 0 -0.418 rs485288 intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 1/14 rs485288 1 G:0.2244 A:0.6543 A:0.7882 NA A:0.8948 A:0.7286 A:0.8558 A:0.6825 A:0.7071 TGC A,A 0.749 12:69586248 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 0.411376 0.2139 0.04195 0.08998 0.479648882706168 0.0584882 0.999501007213571 TRUE 0.75282 ENSE00001101217_007 ENSE00001101217 007 12 69979997 69980166 + 53 75 42 C T 69980029 2441 33 ATGTGTTAGAGTATTGGTACTTAAACGGAATGTCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586248 69586249 69586249 upstr_intron -21 -0.377358490566038 ATGTGTTAGAGTATTGGTACTTAAACGGAATGTCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant 12 13 0.988518251245616 0.976542816196253 0.982530533720934 743 289 0.978455416192316 0.980871351766922 0.979663383979619 NA NA 0.976226720264833 0.965958468263684 NA NA 0.00222869592748309 0.0149128835032378 NA 0.971092594264259 NA 0.00857078971536046 NA FALSE NA 0.001 0.469 . intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 1/14 1 NA GCC C,T 8.236e-06 12:69586249 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 0.365142 0.19056 0.04311 0.08998 0.515606221829394 0.0584882 0.999501007213571 TRUE 8.1244e-06 ENSE00001101217_008 ENSE00001101217 008 12 69979997 69980166 + 53 75 42 C G 69980060 2442 64 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTGCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586279 69586280 69586280 exon 11 0.146666666666667 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTGCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant 17 28 1 1 1 1717 849 0.947667694004749 1 0.973833847002375 NA NA 0.976226720264833 0.965958468263684 NA NA -0.0285590262600831 0.0340415317363155 NA 0.971092594264259 NA 0.00274125273811621 NA FALSE NA 1 7.104 . missense_variant&NMD_transcript_variant MODERATE CCT2 HGNC 1615 ENST00000550010 2/15 1 deleterious(0) probably_damaging(0.94) NA TCC C,G 8.236e-06 12:69586280 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 missense_variant 5.230353 0.96435 0.97342 0.627647 0.991657270625752 0 0.999501007213571 TRUE 4.06068e-06 ENSE00001101217_010 ENSE00001101217 010 12 69979997 69980166 + 53 75 42 C T 69980076 2444 80 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAATATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586295 69586296 69586296 exon 27 0.36 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAATATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 677 1014 0.996614726427819 0.996780191610266 0.996697459019043 NA NA 0.976226720264833 0.965958468263684 NA NA 0.0203880061629867 0.0308217233465818 NA 0.971092594264259 NA 0.0256048647547843 NA FALSE NA 1 0.979 . synonymous_variant&NMD_transcript_variant LOW CCT2 HGNC 1615 ENST00000550010 2/15 1 NA ACA C,T 8.236e-06 12:69586296 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 synonymous_variant 1.454673 0.93661 0.7433 0.542737 0.909167773388303 0 0.999501007213571 TRUE 4.06075e-06 ENSE00001101217_011 ENSE00001101217 011 12 69979997 69980166 + 53 75 42 T C 69980082 2445 86 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTCAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586301 69586302 69586302 exon 33 0.44 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTCAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 162 1983 1 0.999458027440836 0.999729013720418 NA NA 0.976226720264833 0.965958468263684 NA NA 0.0237732797351674 0.033499559177152 NA 0.971092594264259 NA 0.0286364194561597 NA FALSE NA 1 4.323 rs111309939 synonymous_variant&NMD_transcript_variant LOW CCT2 HGNC 1615 ENST00000550010 2/15 rs111309939 1 C:0.0008 C:0 C:0 NA C:0 C:0 C:0.0041 C:0.0016 C:0.0019 TTA T,C 0.001277 12:69586302 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 synonymous_variant 0.511382 0.91464 0.0596 0.542737 0.842995906738549 0 0.999501007213571 TRUE 0.00117766 ENSE00001101217_012 ENSE00001101217 012 12 69979997 69980166 + 53 75 42 A G 69980084 2446 88 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAGGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586303 69586304 69586304 exon 35 0.466666666666667 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAGGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 1330 216 0.998180567343701 0.993958763924649 0.996069665634175 NA NA 0.976226720264833 0.965958468263684 NA NA 0.021953847078868 0.0280002956609641 NA 0.971092594264259 NA 0.0249770713699161 NA FALSE NA 1 3.784 . missense_variant&NMD_transcript_variant MODERATE CCT2 HGNC 1615 ENST00000550010 2/15 1 tolerated(0.15) benign(0.012) NA AAG A,G 8.236e-06 12:69586304 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 missense_variant 2.629692 0.95158 0.89122 0.542737 0.995943284280801 0 0.999501007213571 TRUE 4.06078e-06 ENSE00001101217_013 ENSE00001101217 013 12 69979997 69980166 + 53 75 42 G A 69980086 2447 90 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGACAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586305 69586306 69586306 exon 37 0.493333333333333 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGACAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 256 1081 0.99204581229757 0.994856191901653 0.993451002099611 NA NA 0.976226720264833 0.965958468263684 NA NA 0.0158190920327371 0.0288977236379685 NA 0.971092594264259 NA 0.0223584078353528 NA FALSE NA 1 3.774 . missense_variant&NMD_transcript_variant MODERATE CCT2 HGNC 1615 ENST00000550010 2/15 1 tolerated(0.32) benign(0.003) NA GGC G,A 8.236e-06 12:69586306 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 missense_variant 2.774992 0.94528 0.87651 0.542737 0.995154851457246 0 0.999501007213571 TRUE 4.06098e-06 ENSE00001101217_014 ENSE00001101217 014 12 69979997 69980166 + 53 75 42 T C 69980133 2448 137 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTCGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586352 69586353 69586353 downstr_intron 9 1.21951219512195 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTCGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 796 231 1 0.991861327500382 0.995930663750191 NA NA 0.976226720264833 0.965958468263684 NA NA 0.0237732797351674 0.0259028592366973 NA 0.971092594264259 NA 0.0248380694859324 NA FALSE NA 0 -0.344 . intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 2/14 1 NA TTG T,C 8.236e-06 12:69586353 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 0.548455 0.21149 0.0272 0.07321 0.664768022094796 0.0735679 0.999501007213571 TRUE 1.21935e-05 ENSE00001101217_015 ENSE00001101217 015 12 69979997 69980166 + 53 75 42 G C 69980141 2449 145 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAACCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 69586360 69586361 69586361 downstr_intron 17 1.41463414634146 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAACCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 538 1598 0.997134894169523 0.998112255875139 0.997623575022331 NA NA 0.976226720264833 0.965958468263684 NA NA 0.0209081739046907 0.0321537876114543 NA 0.971092594264259 NA 0.0265309807580725 NA FALSE NA 0 -3.009 rs484319 intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 2/14 rs484319 1 G:0.1466 C:0.9297 C:0.8199 NA C:0.8958 C:0.7306 C:0.8569 C:0.8827 C:0.708 AGC C,C 0.768 12:69586361 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant -0.39923 0.16985 0.00595 0.07321 0.42163515301107 0.0645023 0.999501007213571 TRUE 0.768391 ENSE00001101217_016 ENSE00001101217 016 12 69979997 69980166 + 53 75 42 G C 69980146 2450 150 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTCTTTTAAAGATAAAACTGGAG 69586216 69586386 69586365 69586366 69586366 downstr_intron 22 1.53658536585366 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTCTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 602 1138 0.931673776799045 0.9945349681348 0.963104372466923 NA NA 0.976226720264833 0.965958468263684 NA NA -0.0445529434657876 0.028576499871116 NA 0.971092594264259 NA -0.00798822179733583 NA FALSE NA 0.063 -0.213 . intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 2/14 rs201508421 1 NA TGT G,C 0.0001485 12:69586366 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 0.383752 0.14374 0.00607 0.07321 0.75497711419072 0.101044 0.999501007213571 TRUE 8.14465e-05 ENSE00001101217_017 ENSE00001101217 017 12 69979997 69980166 + 53 75 42 T A 69980147 2451 151 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGATTTAAAGATAAAACTGGAG 69586216 69586386 69586366 69586367 69586367 downstr_intron 23 1.5609756097561 ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGATTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG mutant NA NA NA NA NA 844 405 0.972082477521533 0.994889203359561 0.983485840440547 NA NA 0.976226720264833 0.965958468263684 NA NA -0.00414424274329928 0.028930735095877 NA 0.971092594264259 NA 0.0123932461762888 NA FALSE NA 0.296 0.275 . intron_variant&NMD_transcript_variant MODIFIER CCT2 HGNC 1615 ENST00000550010 2/14 1 NA GTT T,A 8.236e-06 12:69586367 CCT2 HGNC Symbol protein_coding 16236 ENSG00000166226 ENSE00003494988 intron_variant 1.057054 0.17051 0.08423 0.07321 0.859643937050263 0.101044 0.999501007213571 TRUE NA ENSE00001101217_BRK ENSE00001101217 BRK 12 69979997 69980166 + 53 75 42 A,G; T,T NA NA NA ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCTTGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGCCAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG 69586216 69586386 NA NA NA NA NA NA ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCTTGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGCCAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG ATGTGTTAGAGTATTGGTACTTAAACGGAATGCCTCTTGGTTTTCCTTTTCAGGCGTCCCTTTCCCTTGCACCTGTTAACATCTTTAAGGCAGGAGCTGATGAAGAGAGAGCAGAGACAGCTCGTCTGGTAAGCCTTGTTCTAAGCATTGTTTTAAAGATAAAACTGGAG control 79 26 0 0 0 364 793 0.15637256281705 0.107995989101477 0.132184275959263 NA NA 0.976226720264833 0.965958468263684 NA NA -0.819854157447782 -0.857962479162208 NA 0.971092594264259 NA -0.838908318304995 NA TRUE NA NA NA NA NA NA CCT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCT2 NA NA NA ENSG00000166226 ENSE00003494988 NA NA NA NA NA NA NA 0.999501007213571 TRUE NA ENSE00001101227_000 ENSE00001101227 000 10 72644870 72645039 - 39 81 50 NA NA NA NA NA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 NA NA NA NA NA NA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA natural 68 61 0.110915627332461 0.0654676082789274 0.0881916178056944 1269 1444 0.948749715995039 0.761267300758591 0.855008508376815 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 0 0 0 0 0.0881916178056944 0.855008508376815 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCBD1 NA NA NA ENSG00000166228 ENSE00003688621 NA NA NA NA NA NA NA 0.00109441294418619 FALSE NA ENSE00001101227_002 ENSE00001101227 002 10 72644870 72645039 - 39 81 50 C T 72644892 1592 148 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTACCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885134 70885135 70885135 downstr_intron 17 1.44736842105263 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTACCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant NA NA NA NA NA 691 56 0.96896173011013 0.947219105716211 0.958090417913171 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 NA NA 0.0202120141150915 0.18595180495762 0.0881916178056944 0.855008508376815 NA 0.103081909536356 NA FALSE NA 0 -2.123 NA NA NA PCBD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:70885135 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 intron_variant 0.075694 0.24134 0.0356 0.295142 0.527663581860259 0.0910225 0.00109441294418619 FALSE 9.33965e-05 ENSE00001101227_004 ENSE00001101227 004 10 72644870 72645039 - 39 81 50 C T 72644894 1594 146 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTATGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885136 70885137 70885137 downstr_intron 15 1.39473684210526 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTATGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant NA NA NA NA NA 201 669 0.936718282482545 0.910615156997059 0.923666719739802 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 NA NA -0.012031433512494 0.149347856238469 0.0881916178056944 0.855008508376815 NA 0.0686582113629873 NA FALSE NA 0 0.042 . intron_variant&non_coding_transcript_variant MODIFIER PCBD1 HGNC 8646 ENST00000493961 2/2 1 NA ACA C,T 1.647e-05 10:70885137 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 intron_variant 0.386046 0.24952 0.03276 0.295142 0.589077888639637 0.0910225 0.00109441294418619 FALSE 1.21819e-05 ENSE00001101227_005 ENSE00001101227 005 10 72644870 72645039 - 39 81 50 C T 72644920 1595 120 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACATGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885162 70885163 70885163 exon -12 0.864197530864197 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACATGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant NA NA NA NA NA 587 19 0.804929890252439 0.95 0.87746494512622 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 NA NA -0.1438198257426 0.188732699241409 0.0881916178056944 0.855008508376815 NA 0.022456436749405 NA FALSE NA 1 6.025 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PCBD1 HGNC 8646 ENST00000493961 2/3 rs200188190 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0002 ACG C,T 0.0003953 10:70885163 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 missense_variant 5.906161 0.95456 0.94888 0.706298 0.998277629996976 0 0.00109441294418619 FALSE 0.000308602 ENSE00001101227_008 ENSE00001101227 008 10 72644870 72645039 - 39 81 50 A T 72644926 1598 114 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGATTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885168 70885169 70885169 exon -18 0.790123456790123 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGATTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant NA NA NA NA NA 48 225 0.989235534843358 0.999830679581554 0.994533107212456 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 NA NA 0.0404858188483193 0.238563378822964 0.0881916178056944 0.855008508376815 NA 0.139524598835642 NA FALSE NA 1 9.253 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PCBD1 HGNC 8646 ENST00000493961 2/3 1 NA AAC A,T 8.236e-06 10:70885169 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 missense_variant 6.6844 0.97817 0.98188 0.706298 0.99150682588951 0 0.00109441294418619 FALSE 1.21817e-05 ENSE00001101227_009 ENSE00001101227 009 10 72644870 72645039 - 39 81 50 C T 72644927 1599 113 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGATTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885169 70885170 70885170 exon -19 0.777777777777778 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGATTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant NA NA NA NA NA 40 28 1 0.95 0.975 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 NA NA 0.0512502840049612 0.18873269924141 0.0881916178056944 0.855008508376815 NA 0.119991491623185 NA FALSE NA 1 7.747 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PCBD1 HGNC 8646 ENST00000493961 2/3 1 NA ACC C,T 8.236e-06 10:70885170 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 stop_gained 14.895765 0.98119 0.97475 0.706298 0.991715746923795 0 0.00109441294418619 FALSE 4.06055e-06 ENSE00001101227_012 ENSE00001101227 012 10 72644870 72645039 - 39 81 50 G T 72644939 1602 101 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCAACATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885181 70885182 70885182 exon -31 0.62962962962963 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCAACATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant NA NA NA NA NA 82 628 1 1 1 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 NA NA 0.0512502840049612 0.238732699241409 0.0881916178056944 0.855008508376815 NA 0.144991491623185 NA FALSE NA 1 2.052 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PCBD1 HGNC 8646 ENST00000493961 2/3 1 NA GGT G,T 8.236e-06 10:70885182 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 missense_variant 5.930306 0.94705 0.91553 0.706298 0.993596133962864 0 0.00109441294418619 FALSE 1.21817e-05 ENSE00001101227_018 ENSE00001101227 018 10 72644870 72645039 - 39 81 50 G A 72645001 1608 39 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTTCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885243 70885244 70885244 upstr_intron -12 -0.22 GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTTCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant NA NA NA NA NA 109 21 1 1 1 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 NA NA 0.0512502840049612 0.238732699241409 0.0881916178056944 0.855008508376815 NA 0.144991491623185 NA FALSE NA 0.678 0.458 . intron_variant&non_coding_transcript_variant MODIFIER PCBD1 HGNC 8646 ENST00000493961 1/2 1 NA GGA G,A 8.236e-06 10:70885244 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 intron_variant 0.722656 0.20774 0.03671 0.099367 0.671531698284691 0.124712 0.00109441294418619 FALSE 4.06342e-06 ENSE00001101227_021 ENSE00001101227 021 10 72644870 72645039 - 39 81 50 G C 72645014 1611 26 GAAGTCCTTTCTCTTAGAACACTAAGCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885256 70885257 70885257 upstr_intron -25 -0.48 GAAGTCCTTTCTCTTAGAACACTAAGCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant 1449 270 0.00181798244259988 0 0.000908991221299942 30 758 0.0337562635167353 0 0.0168781317583677 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 -0.109097644889861 -0.0654676082789274 -0.914993452478303 -0.761267300758591 0.0881916178056944 0.855008508376815 -0.0872826265843945 -0.838130376618447 0.750847750034052 TRUE FALSE 0.045 0.299 . intron_variant&non_coding_transcript_variant MODIFIER PCBD1 HGNC 8646 ENST00000493961 1/2 rs367896751 1 NA C:0 C:0.0015 GGT G,C 0.0009225 10:70885257 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 intron_variant -0.107175 0.24046 0.27405 0.156188 0.725395670185452 0.124712 0.00109441294418619 FALSE 0.000823374 ENSE00001101227_023 ENSE00001101227 023 10 72644870 72645039 - 39 81 50 T C 72645024 1613 16 GAAGTCCTTTCTCTTGGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA 70885112 70885282 70885266 70885267 70885267 upstr_intron -35 -0.68 GAAGTCCTTTCTCTTGGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA GAAGTCCTTTCTCTTAGAACACTAACCTGGCTCTCACTCCACTTAAATAGGCCTTTGGGTTCATGACAAGAGTGGCCCTGCAGGCTGAGAAACTGGACCACCATCCTGAATGGTTTAACGTGTACAACAAGGTGAGTGATGCTGTGTGCCTCTGTTGTGCTCTGCCCCCA mutant NA NA NA NA NA 518 64 0.895635583254868 0.93417866616206 0.914907124708464 0.110915627332461 0.0654676082789274 0.948749715995039 0.761267300758591 NA NA -0.0531141327401712 0.17291136540347 0.0881916178056944 0.855008508376815 NA 0.0598986163316494 NA FALSE NA 0.007 0.006 . intron_variant&non_coding_transcript_variant MODIFIER PCBD1 HGNC 8646 ENST00000493961 1/2 rs535416170 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTA T,C 8.237e-06 10:70885267 PCBD1 HGNC Symbol protein_coding 6504 ENSG00000166228 ENSE00003688621 intron_variant -0.014669 0.26768 0.14057 0.156188 0.69088999723741 0.124712 0.00109441294418619 FALSE NA ENSE00001102128_000 ENSE00001102128 000 11 35706756 35706925 + 51 78 41 NA NA NA NA NA CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGCGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 NA NA NA NA NA NA GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG natural 120 54 0.986193580167082 0.993714109569219 0.989953844868151 3076 2960 0.950189911737361 0.992791132950494 0.971490522343928 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 0 0 0 0 0.989953844868151 0.971490522343928 0 0 0 FALSE FALSE NA NA NA NA NA TRIM44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM44 NA NA NA ENSG00000166326 ENSE00001102128 NA NA NA NA NA NA NA 0.163653747251109 FALSE NA ENSE00001102128_001 ENSE00001102128 001 11 35706756 35706925 + 51 78 41 T C 35706776 1008 21 CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGCGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGGCAGCATTTTGTTGCTCTCTC 35685207 35685377 35685227 35685228 35685228 upstr_intron -31 -0.588235294117647 GAGAGAGCAACAAAATGCTGCCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 820 564 0.999345735170416 1 0.999672867585208 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.0491558234330551 0.00720886704950596 0.989953844868151 0.971490522343928 NA 0.0281823452412805 NA FALSE NA 0 -0.65 . intron_variant MODIFIER TRIM44 HGNC 19016 ENST00000299413 1/4 1 NA GTC T 8.237e-06 11:35685228 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 intron_variant -0.183388 0.13902 0.02496 0.295142 0.4035396608289 0.192572 0.163653747251109 FALSE NA ENSE00001102128_002 ENSE00001102128 002 11 35706756 35706925 + 51 78 41 G C 35706780 1009 25 CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGCGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCAGTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685231 35685232 35685232 upstr_intron -27 -0.509803921568627 GAGAGAGCAACAAAATGCTGTCTACTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 432 427 1 1 1 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.049810088262639 0.00720886704950596 0.989953844868151 0.971490522343928 NA 0.0285094776560725 NA FALSE NA 0.992 1.382 rs3740798 intron_variant MODIFIER TRIM44 HGNC 19016 ENST00000299413 1/4 rs3740798 1 C:0.0787 C:0.025 C:0.1052 NA C:0.0685 C:0.1561 C:0.0634 C:0.0404 C:0.1655 AGT G 0.137 11:35685232 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 intron_variant -0.020937 0.86411 0.68365 0.295142 0.440861648683706 0.198062 0.163653747251109 FALSE 0.137701 ENSE00001102128_003 ENSE00001102128 003 11 35706756 35706925 + 51 78 41 A G 35706790 1010 35 CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGCGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGCGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685241 35685242 35685242 upstr_intron -17 -0.313725490196078 GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCGCTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 185 62 1 1 1 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.049810088262639 0.00720886704950596 0.989953844868151 0.971490522343928 NA 0.0285094776560725 NA FALSE NA 0.007 -0.032 . intron_variant MODIFIER TRIM44 HGNC 19016 ENST00000299413 1/4 1 NA CAC A 8.237e-06 11:35685242 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 intron_variant 0.310086 0.95492 0.17685 0.295142 0.477343530651363 0.77202 0.163653747251109 FALSE 4.07106e-06 ENSE00001102128_004 ENSE00001102128 004 11 35706756 35706925 + 51 78 41 G A 35706831 1011 76 CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGCGGTCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685282 35685283 35685283 exon 25 0.320512820512821 GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGACCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 246 2129 0.997173200129015 0.998338314453647 0.997755757291331 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.0469832883916539 0.00554718150315314 0.989953844868151 0.971490522343928 NA 0.0262652349474035 NA FALSE NA 1 3.463 . missense_variant MODERATE TRIM44 HGNC 19016 ENST00000299413 2/5 rs569177395 1 tolerated(0.11) unknown(0) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGC G 2.471e-05 11:35685283 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 missense_variant 3.997641 0.97654 0.8801 0.736574 0.997730123491265 0 0.163653747251109 FALSE 1.21846e-05 ENSE00001102128_005 ENSE00001102128 005 11 35706756 35706925 + 51 78 41 C T 35706833 1012 78 CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGCAGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685284 35685285 35685285 exon 27 0.346153846153846 GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCTGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 104 2364 0.980268632510973 0.946155160527985 0.963211896519479 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.030078720773612 -0.0466359724225091 0.989953844868151 0.971490522343928 NA -0.00827862582444855 NA FALSE NA 0.001 -2.41 . synonymous_variant LOW TRIM44 HGNC 19016 ENST00000299413 2/5 1 NA CCG G 9.06e-05 11:35685285 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 synonymous_variant 2.266337 0.88107 0.05392 0.736574 0.819233844019514 0 0.163653747251109 FALSE 9.74809e-05 ENSE00001102128_006 ENSE00001102128 006 11 35706756 35706925 + 51 78 41 G A 35706834 1013 79 CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGTGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685285 35685286 35685286 exon 28 0.358974358974359 GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCACTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 338 925 0.990174350002549 0.997958190123165 0.994066270062857 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.0399844382651878 0.00516705717267074 0.989953844868151 0.971490522343928 NA 0.0225757477189293 NA FALSE NA 0.994 2.674 . missense_variant MODERATE TRIM44 HGNC 19016 ENST00000299413 2/5 1 deleterious(0.02) unknown(0) NA CGC G 3.295e-05 11:35685286 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 missense_variant 5.261884 0.97557 0.88864 0.736574 0.997520789220072 0 0.163653747251109 FALSE 2.03087e-05 ENSE00001102128_007 ENSE00001102128 007 11 35706756 35706925 + 51 78 41 A C 35706837 1014 82 CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCAGAGCGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685288 35685289 35685289 exon 31 0.397435897435897 GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTCTGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 2025 659 0.976721912496672 0.99621628366612 0.986469098081396 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.0265320007593114 0.00342515071562621 0.989953844868151 0.971490522343928 NA 0.0149785757374688 NA FALSE NA 1 3.327 . missense_variant MODERATE TRIM44 HGNC 19016 ENST00000299413 2/5 rs372846940 1 tolerated(0.12) unknown(0) NA C:0 C:0.0001 TAT A 1.647e-05 11:35685289 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 missense_variant 2.760018 0.97394 0.93255 0.736574 0.955742529337447 0 0.163653747251109 FALSE 8.12269e-06 ENSE00001102128_008 ENSE00001102128 008 11 35706756 35706925 + 51 78 41 T C 35706838 1015 83 CTTGGGGTACCAACACCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCGTAGCGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685289 35685290 35685290 exon 32 0.41025641025641 GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTACGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 38 848 1 0.996888692244408 0.998444346122204 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.049810088262639 0.00409755929391387 0.989953844868151 0.971490522343928 NA 0.0269538237782764 NA FALSE NA 1 2.706 rs144607373 missense_variant MODERATE TRIM44 HGNC 19016 ENST00000299413 2/5 rs144607373 1 tolerated(0.48) unknown(0) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 C:0.0002 C:0 ATG T 8.236e-06 11:35685290 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 missense_variant 1.376189 0.96481 0.82801 0.736574 0.914811260151334 0 0.163653747251109 FALSE 4.06141e-06 ENSE00001102128_010 ENSE00001102128 010 11 35706756 35706925 + 51 78 41 T C 35706906 1017 151 CTTGGGGTACCAACACCCAGTCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGCGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685357 35685358 35685358 downstr_intron 22 1.55 GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGACTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 653 373 0.97540934564248 1 0.98770467282124 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.0252194339051188 0.00720886704950596 0.989953844868151 0.971490522343928 NA 0.0162141504773124 NA FALSE NA 0.18 0.663 . intron_variant MODIFIER TRIM44 HGNC 19016 ENST00000299413 2/4 1 NA ATT T 1.647e-05 11:35685358 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 intron_variant 0.131099 0.16376 0.14694 0.099367 0.487294946624696 0.317044 0.163653747251109 FALSE 8.14644e-06 ENSE00001102128_011 ENSE00001102128 011 11 35706756 35706925 + 51 78 41 T C 35706911 1018 156 CTTGGGGTACCAACGCCCAATCAATTCCAAACAATACTTACTTTAGGGTCTGAGCTCTTGAACTTCAACCTTTCCACCAATTCGATCATAGCGGCCTTCAGTCCACCTGAGTCTTTGCTCTAGAAGAAAGAAAAGTGAGGGGTCACTAGACAGCATTTTGTTGCTCTCTC 35685207 35685377 35685362 35685363 35685363 downstr_intron 27 1.675 GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGCGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG mutant NA NA NA NA NA 90 668 1 1 1 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA 0.049810088262639 0.00720886704950596 0.989953844868151 0.971490522343928 NA 0.0285094776560725 NA FALSE NA 0.006 0.722 . intron_variant MODIFIER TRIM44 HGNC 19016 ENST00000299413 2/4 1 NA GTG T 8.236e-06 11:35685363 TRIM44 HGNC Symbol protein_coding 155202 ENSG00000166326 ENSE00001102128 intron_variant 0.030489 0.19412 0.15991 0.099367 0.562646933068928 0.211127 0.163653747251109 FALSE 4.07947e-06 ENSE00001102128_BRK ENSE00001102128 BRK 11 35706756 35706925 + 51 78 41 A,G; T,T NA NA NA GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTTTAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAACCAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG 35685207 35685377 NA NA NA NA NA NA GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTTTAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAACCAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG GAGAGAGCAACAAAATGCTGTCTAGTGACCCCTCACTTTTCTTTCTTCTAGAGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGGTTGAAGTTCAAGAGCTCAGACCCTAAAGTAAGTATTGTTTGGAATTGATTGGGTGTTGGTACCCCAAG control NA NA NA NA NA 321 934 0.000935755725143501 0.00240685807013509 0.0016713068976393 0.986193580167082 0.993714109569219 0.950189911737361 0.992791132950494 NA NA -0.949254156012218 -0.990384274880359 0.989953844868151 0.971490522343928 NA -0.969819215446288 NA TRUE NA NA NA NA NA NA TRIM44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM44 NA NA NA ENSG00000166326 ENSE00001102128 NA NA NA NA NA NA NA 0.163653747251109 FALSE NA ENSE00001102151_000 ENSE00001102151 000 10 75003565 75003734 - 36 87 47 NA NA NA NA NA ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 NA NA NA NA NA NA TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT natural 42 25 0.999150835556359 1 0.999575417778179 1464 1739 0.991284610707444 0.989372141294738 0.990328376001091 0.999150835556359 1 0.991284610707444 0.989372141294738 0 0 0 0 0.999575417778179 0.990328376001091 0 0 0 FALSE FALSE NA NA NA NA NA DNAJC9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAJC9 NA NA NA ENSG00000213551 ENSE00003665350 NA NA NA NA NA NA NA 0.547006457229025 FALSE NA ENSE00001102151_BRK ENSE00001102151 BRK 10 75003565 75003734 - 36 87 47 A,G; T,T NA NA NA TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCTTGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGCCAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT 73243806 73243976 NA NA NA NA NA NA TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCTTGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGCCAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT control 53 41 0 0 0 1168 108 0.000513893517927819 0.0904583071269415 0.0454861003224347 0.999150835556359 1 0.991284610707444 0.989372141294738 -0.999150835556359 -1 -0.990770717189517 -0.898913834167796 0.999575417778179 0.990328376001091 -0.999575417778179 -0.944842275678657 0.0547331420995228 TRUE TRUE NA NA NA NA NA DNAJC9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAJC9 NA NA NA ENSG00000213551 ENSE00003665350 NA NA NA NA NA NA NA 0.547006457229025 FALSE NA ENSE00001102639_000 ENSE00001102639 000 11 8122009 8122178 + 41 99 30 NA NA NA NA NA ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 NA NA NA NA NA NA ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC natural 106 128 0.461677298989611 0.361887775103255 0.411782537046433 2210 4656 0.818012764404651 0.913640695102346 0.865826729753499 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 0 0 0 0 0.411782537046433 0.865826729753499 0 0 0 FALSE FALSE NA NA NA NA NA TUB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUB NA NA NA ENSG00000166402 ENSE00001102639 NA NA NA NA NA NA NA 0.471428314326012 FALSE NA ENSE00001102639_001 ENSE00001102639 001 11 8122009 8122178 + 41 99 30 G A 8122021 310 13 ATAGACGCCTCAAGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100473 8100474 8100474 upstr_intron -29 -0.682926829268293 ATAGACGCCTCAAGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 369 302 0.898984955132137 0.918062695323558 0.908523825227847 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.080972190727486 0.00442200022121142 0.411782537046433 0.865826729753499 NA 0.0426970954743487 NA FALSE NA 0 -0.557 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 9/11 1 NA AGG G,A 8.236e-06 11:8100474 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant 1.437836 0.24156 0.08321 0.115753 0.87454688874833 0.053125 0.471428314326012 FALSE NA ENSE00001102639_002 ENSE00001102639 002 11 8122009 8122178 + 41 99 30 G A 8122022 311 14 ATAGACGCCTCAGATGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100474 8100475 8100475 upstr_intron -28 -0.658536585365854 ATAGACGCCTCAGATGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 413 361 0.99535773031757 0.99763480451545 0.99649626741651 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.177344965912919 0.083994109413104 0.411782537046433 0.865826729753499 NA 0.130669537663011 NA FALSE NA 0 -0.436 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 9/11 1 NA GGT G,A 8.236e-06 11:8100475 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant 1.137067 0.1411 0.00787 0.115753 0.905249646536464 0.053125 0.471428314326012 FALSE 2.05167e-05 ENSE00001102639_003 ENSE00001102639 003 11 8122009 8122178 + 41 99 30 G A 8122024 312 16 ATAGACGCCTCAGGTAGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100476 8100477 8100477 upstr_intron -26 -0.609756097560976 ATAGACGCCTCAGGTAGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 824 804 0.952142014598332 0.949519676928814 0.950830845763573 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.134129250193681 0.0358789818264676 0.411782537046433 0.865826729753499 NA 0.0850041160100745 NA FALSE NA 0.001 1.995 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 9/11 1 NA TGG G,A 3.295e-05 11:8100477 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant 1.296735 0.16444 0.03139 0.115753 0.870618550723328 0.053125 0.471428314326012 FALSE 3.27759e-05 ENSE00001102639_004 ENSE00001102639 004 11 8122009 8122178 + 41 99 30 G A 8122025 313 17 ATAGACGCCTCAGGTGACCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100477 8100478 8100478 upstr_intron -25 -0.585365853658537 ATAGACGCCTCAGGTGACCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 733 129 0.985509392692972 0.997572046223043 0.991540719458007 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.167496628288321 0.0839313511206965 0.411782537046433 0.865826729753499 NA 0.125713989704509 NA FALSE NA 0 -0.101 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 9/11 rs551785996 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGC G,A 8.236e-06 11:8100478 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant 1.278344 0.17663 0.02281 0.115753 0.873684684124874 0.053125 0.471428314326012 FALSE 1.22916e-05 ENSE00001102639_005 ENSE00001102639 005 11 8122009 8122178 + 41 99 30 T C 8122030 314 22 ATAGACGCCTCAGGTGGCCAGCGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100482 8100483 8100483 upstr_intron -20 -0.463414634146341 ATAGACGCCTCAGGTGGCCAGCGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 32 66 0 0.0198443368973876 0.00992216844869378 389 501 0.8 0.807507391783387 0.803753695891694 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.461677298989611 -0.342043438205868 -0.0180127644046509 -0.106133303318959 0.411782537046433 0.865826729753499 -0.401860368597739 -0.0620730338618049 0.339787334735934 FALSE FALSE 0 -0.755 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 9/11 1 NA GTG T,C 8.236e-06 11:8100483 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant 0.327205 0.15441 0.01143 0.115753 0.699439085403241 0.0523258 0.471428314326012 FALSE 8.1612e-06 ENSE00001102639_006 ENSE00001102639 006 11 8122009 8122178 + 41 99 30 C T 8122035 315 27 ATAGACGCCTCAGGTGGCCAGTGTTGTGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100487 8100488 8100488 upstr_intron -15 -0.341463414634146 ATAGACGCCTCAGGTGGCCAGTGTTGTGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 18 79 0.97997006995549 0.999516809273229 0.989743439614359 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.161957305550838 0.0858761141708824 0.411782537046433 0.865826729753499 NA 0.12391670986086 NA FALSE NA 0 -0.135 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 9/11 rs373438699 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0002 T:0.0002 GCG C,T 9.884e-05 11:8100488 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant -0.131825 0.16345 0.01432 0.115753 0.591090756789929 0.125548 0.471428314326012 FALSE 6.92656e-05 ENSE00001102639_007 ENSE00001102639 007 11 8122009 8122178 + 41 99 30 G A 8122036 316 28 ATAGACGCCTCAGGTGGCCAGTGTTGCATTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100488 8100489 8100489 upstr_intron -14 -0.317073170731707 ATAGACGCCTCAGGTGGCCAGTGTTGCATTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 403 53 0.950601679404839 0.951232166999489 0.950916923202164 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.132588915000188 0.0375914718971427 0.411782537046433 0.865826729753499 NA 0.0850901934486651 NA FALSE NA 0 0.004 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 9/11 rs372770177 1 NA A:0 A:0.0001 CGT G,A 5.765e-05 11:8100489 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant -0.54058 0.1334 0.01644 0.115753 0.71679231733121 0.125548 0.471428314326012 FALSE 6.10913e-05 ENSE00001102639_008 ENSE00001102639 008 11 8122009 8122178 + 41 99 30 C G 8122041 317 33 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTGTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100493 8100494 8100494 upstr_intron -9 -0.195121951219512 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTGTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 814 576 0 0.141889164105826 0.0709445820529132 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.818012764404651 -0.77175153099652 0.411782537046433 0.865826729753499 NA -0.794882147700585 NA TRUE NA 0 -4.772 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 9/11 1 NA TCT C,G 8.236e-06 11:8100494 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant 0.467726 0.23819 0.02267 0.069865 0.674337541634082 0.125548 0.471428314326012 FALSE 4.06729e-06 ENSE00001102639_010 ENSE00001102639 010 11 8122009 8122178 + 41 99 30 G A 8122052 319 44 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAAACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100504 8100505 8100505 exon 3 0.0303030303030303 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAAACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 61 109 0.83180725509724 0.834749900843428 0.833278577970334 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.0137944906925892 -0.0788907942589181 0.411782537046433 0.865826729753499 NA -0.0325481517831644 NA FALSE NA 1 1.191 . splice_region_variant&synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 1 NA AGA G,A 8.236e-06 11:8100505 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 splice_region_variant 1.581337 0.96818 0.65973 0.67177 0.86375724175722 0 0.471428314326012 FALSE 4.06349e-06 ENSE00001102639_012 ENSE00001102639 012 11 8122009 8122178 + 41 99 30 C T 8122058 321 50 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAATGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100510 8100511 8100511 exon 9 0.0909090909090909 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAATGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 254 71 0 0 0 481 1177 0.0297896993723177 0.0913026345564196 0.0605461669643686 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.461677298989611 -0.361887775103255 -0.788223065032333 -0.822338060545927 0.411782537046433 0.865826729753499 -0.411782537046433 -0.80528056278913 0.393498025742697 TRUE FALSE 0.023 -0.564 rs138124865 synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 rs138124865 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0005 T:0.0005 ACG C,T 0.000173 11:8100511 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 synonymous_variant 2.09966 0.93095 0.04278 0.67177 0.746619703647627 0 0.471428314326012 FALSE 0.000158444 ENSE00001102639_013 ENSE00001102639 013 11 8122009 8122178 + 41 99 30 G A 8122059 322 51 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACATCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100511 8100512 8100512 exon 10 0.101010101010101 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACATCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 1062 235 0.770512191415522 0.8 0.785256095707761 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.0475005729891289 -0.113640695102346 0.411782537046433 0.865826729753499 NA -0.0805706340457376 NA FALSE NA 1 9.818 rs75594955 missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 rs75594955 1 deleterious(0.01) probably_damaging(0.951) A:0.0026 A:0 A:0.0014 NA A:0 A:0.0109 A:0.001 A:0.0018 A:0.009 CGT G,A 0.006243 11:8100512 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 6.004526 0.99378 0.99732 0.67177 0.998397644064161 0 0.471428314326012 FALSE 0.0065325 ENSE00001102639_014 ENSE00001102639 014 11 8122009 8122178 + 41 99 30 C T 8122067 323 59 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGTTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100519 8100520 8100520 exon 18 0.181818181818182 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGTTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 389 73 0 0 0 167 421 0.00180191113511265 0.0275907575202141 0.0146963343276634 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.461677298989611 -0.361887775103255 -0.816210853269538 -0.886049937582132 0.411782537046433 0.865826729753499 -0.411782537046433 -0.851130395425835 0.439347858379402 TRUE FALSE 0.556 -0.076 . synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 rs376884296 1 NA T:0 T:0.0001 GCT C,T 1.647e-05 11:8100520 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 synonymous_variant 1.93506 0.96714 0.59608 0.67177 0.67799370133701 0 0.471428314326012 FALSE 8.12321e-06 ENSE00001102639_015 ENSE00001102639 015 11 8122009 8122178 + 41 99 30 C T 8122070 324 62 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTTAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100522 8100523 8100523 exon 21 0.212121212121212 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTTAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 145 64 0.00905615121514665 0.0729920685066908 0.0410241098609187 15 345 0 0.000928278054747853 0.000464139027373926 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.452621147774464 -0.288895706596564 -0.818012764404651 -0.912712417047598 0.411782537046433 0.865826729753499 -0.370758427185514 -0.865362590726125 0.49460416354061 TRUE FALSE 0.891 -0.197 . synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 1 NA TCA C,T 8.236e-06 11:8100523 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 synonymous_variant 1.698101 0.96195 0.28035 0.67177 0.734642881146123 0 0.471428314326012 FALSE 8.12275e-06 ENSE00001102639_016 ENSE00001102639 016 11 8122009 8122178 + 41 99 30 A G 8122072 325 64 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAGGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100524 8100525 8100525 exon 23 0.232323232323232 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAGGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 91 39 0 0.00832556637680797 0.00416278318840398 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.818012764404651 -0.905315128725538 0.411782537046433 0.865826729753499 NA -0.861663946565095 NA TRUE NA 1 9.343 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 1 tolerated(0.26) probably_damaging(0.988) NA AAG A,G 8.236e-06 11:8100525 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 4.201319 0.99164 0.99064 0.67177 0.997744299737353 0 0.471428314326012 FALSE 4.06151e-06 ENSE00001102639_017 ENSE00001102639 017 11 8122009 8122178 + 41 99 30 G A 8122076 326 68 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGACCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100528 8100529 8100529 exon 27 0.272727272727273 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGACCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 1433 38 0.993510677862386 0.993721632492767 0.993616155177577 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.175497913457735 0.0800809373904208 0.411782537046433 0.865826729753499 NA 0.127789425424078 NA FALSE NA 0.231 -0.941 . synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 1 NA GGC G,A 8.236e-06 11:8100529 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 synonymous_variant 1.41218 0.94366 0.11805 0.67177 0.808548473377072 0 0.471428314326012 FALSE 4.06114e-06 ENSE00001102639_018 ENSE00001102639 018 11 8122009 8122178 + 41 99 30 C T 8122080 327 72 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTTGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100532 8100533 8100533 exon 31 0.313131313131313 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTTGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 24 49 0 0 0 27 1454 0.805951605641301 0.824225532241601 0.815088568941451 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.461677298989611 -0.361887775103255 -0.0120611587633505 -0.0894151628607449 0.411782537046433 0.865826729753499 -0.411782537046433 -0.0507381608120477 0.361044376234385 FALSE FALSE 0.998 2.521 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 COSM932475 1 deleterious(0) probably_damaging(0.997) NA TCG C,T 1.647e-05 11:8100533 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 8.268827 0.98887 0.93525 0.67177 0.99924740927136 0 0.471428314326012 FALSE 2.03061e-05 ENSE00001102639_020 ENSE00001102639 020 11 8122009 8122178 + 41 99 30 G A 8122090 329 82 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAACGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100542 8100543 8100543 exon 41 0.414141414141414 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAACGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 44 33 0.8 0.835322112464873 0.817661056232437 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.0180127644046509 -0.0783185826374729 0.411782537046433 0.865826729753499 NA -0.0481656735210619 NA FALSE NA 1 2.228 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 rs370178939 1 deleterious(0) benign(0.209) A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 AGC G,A 2.471e-05 11:8100543 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 4.370342 0.98522 0.9263 0.67177 0.995416386635644 0 0.471428314326012 FALSE 2.03049e-05 ENSE00001102639_021 ENSE00001102639 021 11 8122009 8122178 + 41 99 30 C T 8122091 330 83 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGTGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100543 8100544 8100544 exon 42 0.424242424242424 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGTGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 316 123 0 0 0 403 156 0.8 0.8 0.8 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.461677298989611 -0.361887775103255 -0.018012764404651 -0.113640695102346 0.411782537046433 0.865826729753499 -0.411782537046433 -0.0658267297534986 0.345955807292934 FALSE FALSE 0.132 -1.214 rs72848487 synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 rs72848487 1 T:0.0152 T:0.0008 T:0.0144 NA T:0 T:0.0398 T:0.0256 T:0.0068 T:0.0381 GCG C,T 0.027 11:8100544 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 synonymous_variant 2.600643 0.90216 0.04232 0.67177 0.815491987355015 0 0.471428314326012 FALSE 0.0253217 ENSE00001102639_022 ENSE00001102639 022 11 8122009 8122178 + 41 99 30 C T 8122100 331 92 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTTCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100552 8100553 8100553 exon -49 0.515151515151515 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTTCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 1037 266 0.952049186856403 0.980074158009324 0.966061672432863 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.134036422451752 0.0664334629069782 0.411782537046433 0.865826729753499 NA 0.100234942679365 NA FALSE NA 1 -0.003 . synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 1 NA TCC C,T 1.647e-05 11:8100553 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 synonymous_variant 2.012969 0.96609 0.62583 0.67177 0.718576529408978 0 0.471428314326012 FALSE 1.62439e-05 ENSE00001102639_023 ENSE00001102639 023 11 8122009 8122178 + 41 99 30 A G 8122113 332 105 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACGTGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100565 8100566 8100566 exon -36 0.646464646464647 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACGTGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 652 955 0.928511572011034 0.954982723594496 0.941747147802765 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.110498807606383 0.04134202849215 0.411782537046433 0.865826729753499 NA 0.0759204180492665 NA FALSE NA 1 3.636 rs139456896 missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 rs139456896 1 tolerated(0.06) benign(0.271) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0005 G:0.0009 CAT A,G 0.0002553 11:8100566 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 2.033018 0.98579 0.91702 0.67177 0.970704940704351 0 0.471428314326012 FALSE 0.000272094 ENSE00001102639_024 ENSE00001102639 024 11 8122009 8122178 + 41 99 30 G C 8122115 333 107 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATCGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100567 8100568 8100568 exon -34 0.666666666666667 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATCGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 580 856 0.993397247457897 0.982600742152235 0.987998994805066 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.175384483053246 0.0689600470498888 0.411782537046433 0.865826729753499 NA 0.122172265051567 NA FALSE NA 1 5.755 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 1 tolerated(0.07) benign(0.3) NA TGG G,C 1.647e-05 11:8100568 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 3.34995 0.99392 0.9801 0.67177 0.990459331403596 0 0.471428314326012 FALSE 8.12222e-06 ENSE00001102639_026 ENSE00001102639 026 11 8122009 8122178 + 41 99 30 A G 8122120 335 112 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCGTGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100572 8100573 8100573 exon -29 0.717171717171717 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCGTGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 402 250 0.998350443211512 0.999366863771375 0.998858653491444 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.180337678806861 0.0857261686690287 0.411782537046433 0.865826729753499 NA 0.133031923737945 NA FALSE NA 1 7.477 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 1 deleterious(0.01) possibly_damaging(0.823) NA CAT A,G 5.765e-05 11:8100573 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 4.672447 0.99151 0.9812 0.67177 0.990709520938286 0 0.471428314326012 FALSE 4.4673e-05 ENSE00001102639_027 ENSE00001102639 027 11 8122009 8122178 + 41 99 30 T C 8122129 336 121 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGCCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100581 8100582 8100582 exon -20 0.808080808080808 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGCCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 548 24 0.899194065657543 0.810423489972415 0.854808777814979 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.0811813012528916 -0.103217205129931 0.411782537046433 0.865826729753499 NA -0.0110179519385197 NA FALSE NA 1 8.042 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 1 deleterious(0) benign(0.323) NA GTC T,C 8.237e-06 11:8100582 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 4.683223 0.99131 0.98369 0.67177 0.997306220787547 0 0.471428314326012 FALSE 4.06184e-06 ENSE00001102639_028 ENSE00001102639 028 11 8122009 8122178 + 41 99 30 C T 8122132 337 124 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTTTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100584 8100585 8100585 exon -17 0.838383838383838 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTTTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 176 94 0 0 0 NA NA NA NA NA 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.461677298989611 -0.361887775103255 NA NA 0.411782537046433 0.865826729753499 -0.411782537046433 NA NA NA FALSE 0.989 3.39 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 COSM3453872 1 deleterious(0) possibly_damaging(0.657) NA TCT C,T 1.647e-05 11:8100585 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 5.930009 0.97192 0.93174 0.67177 0.997187019943834 0 0.471428314326012 FALSE 8.124e-06 ENSE00001102639_029 ENSE00001102639 029 11 8122009 8122178 + 41 99 30 A G 8122134 338 126 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTGTCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100586 8100587 8100587 exon -15 0.858585858585859 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTGTCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 192 733 0.93321753506874 0.892168995982762 0.912693265525751 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.115204770664089 -0.0214716991195839 0.411782537046433 0.865826729753499 NA 0.0468665357722525 NA FALSE NA 1 9.343 rs149675851 missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 rs149675851 1 tolerated(0.28) benign(0.117) NA G:0.0002 G:0 TAT A,G 8.236e-06 11:8100587 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 3.858072 0.99143 0.99047 0.67177 0.990739665464979 0 0.471428314326012 FALSE NA ENSE00001102639_030 ENSE00001102639 030 11 8122009 8122178 + 41 99 30 T C 8122135 339 127 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTACCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100587 8100588 8100588 exon -14 0.868686868686869 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTACCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 25 90 1 0.963006493085842 0.981503246542921 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.181987235595349 0.0493657979834958 0.411782537046433 0.865826729753499 NA 0.115676516789422 NA FALSE NA 1 8.042 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 1 deleterious(0) probably_damaging(0.995) NA ATC T,C 8.236e-06 11:8100588 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 6.216071 0.99131 0.98369 0.67177 0.99822452751343 0 0.471428314326012 FALSE 4.06177e-06 ENSE00001102639_031 ENSE00001102639 031 11 8122009 8122178 + 41 99 30 C T 8122137 340 129 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCTGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100589 8100590 8100590 exon -12 0.888888888888889 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCTGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 303 771 0.8 0.800842814240057 0.800421407120029 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.018012764404651 -0.112797880862289 0.411782537046433 0.865826729753499 NA -0.0654053226334702 NA FALSE NA 1 0.293 rs144484513 missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 rs144484513&COSM1158316 1 deleterious(0.04) probably_damaging(0.93) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 9.884e-05 11:8100590 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 7.698292 0.97383 0.87175 0.67177 0.996506723091443 0 0.471428314326012 FALSE 0.000113756 ENSE00001102639_032 ENSE00001102639 032 11 8122009 8122178 + 41 99 30 G A 8122138 341 130 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCACCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100590 8100591 8100591 exon -11 0.898989898989899 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCACCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 195 17 0.864152946939117 0.823062574113428 0.843607760526273 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.0461401825344662 -0.0905781209889179 0.411782537046433 0.865826729753499 NA -0.0222189692272259 NA FALSE NA 1 4.981 . missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 COSM180011 1 tolerated(0.05) possibly_damaging(0.816) NA CGC G,A 8.236e-06 11:8100591 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 7.081917 0.98066 0.95041 0.67177 0.998244448407509 0 0.471428314326012 FALSE NA ENSE00001102639_033 ENSE00001102639 033 11 8122009 8122178 + 41 99 30 C T 8122139 342 131 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGTCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100591 8100592 8100592 exon -10 0.909090909090909 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGTCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 58 58 0.0875790468249276 0 0.0437895234124638 NA NA NA NA NA 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.374098252164683 -0.361887775103255 NA NA 0.411782537046433 0.865826729753499 -0.367993013633969 NA NA NA FALSE 0.002 -2.175 . synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 rs200227654 1 T:0.0012 T:0 T:0 NA T:0.006 T:0 T:0 GCC C,T 0.0003047 11:8100592 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 synonymous_variant 2.157822 0.95429 0.10046 0.67177 0.649893226677861 0 0.471428314326012 FALSE 0.000288501 ENSE00001102639_034 ENSE00001102639 034 11 8122009 8122178 + 41 99 30 C T 8122143 343 135 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCTGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100595 8100596 8100596 exon -6 0.94949494949495 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCTGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 35 590 0.8 0.857840260553347 0.828920130276674 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.018012764404651 -0.0558004345489992 0.411782537046433 0.865826729753499 NA -0.0369065994768251 NA FALSE NA 1 4.812 rs139170512 missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 rs139170512 1 deleterious(0) probably_damaging(0.999) T:0.0004 T:0.0008 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0001 CCG C,T 6.589e-05 11:8100596 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 7.924831 0.98494 0.95894 0.67177 0.999313143777099 0 0.471428314326012 FALSE 7.31565e-05 ENSE00001102639_035 ENSE00001102639 035 11 8122009 8122178 + 41 99 30 G A 8122144 344 136 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCACAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100596 8100597 8100597 exon -5 0.95959595959596 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCACAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 20 899 0.70147870392897 0.800923623535268 0.751201163732119 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.116534060475681 -0.112717071567079 0.411782537046433 0.865826729753499 NA -0.11462556602138 NA FALSE NA 1 5.737 rs144050808 missense_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 rs144050808&COSM147137 1 deleterious(0.01) probably_damaging(0.998) A:0.0004 A:0 A:0 NA A:0.001 A:0 A:0.001 A:0 A:0.0001 CGC G,A 0.0002553 11:8100597 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 6.736083 0.9897 0.96813 0.67177 0.996476353224824 0 0.471428314326012 FALSE 0.000158533 ENSE00001102639_036 ENSE00001102639 036 11 8122009 8122178 + 41 99 30 A G 8122147 345 139 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAGCGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100599 8100600 8100600 exon -2 0.98989898989899 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAGCGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 90 42 0.0596326262849625 0.0212958231648584 0.0404642247249104 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.758380138119689 -0.892344871937488 0.411782537046433 0.865826729753499 NA -0.825362505028588 NA TRUE NA 1 7.477 rs189328202 missense_variant&splice_region_variant MODERATE TUB HGNC 12406 ENST00000534099 10/12 rs189328202 1 tolerated(0.1) possibly_damaging(0.788) G:0.0008 G:0 G:0 NA G:0.004 G:0 G:0 AAC A,G 0.0001565 11:8100600 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 missense_variant 3.899628 0.99166 0.98154 0.67177 0.994673680575782 0 0.471428314326012 FALSE 0.00017478 ENSE00001102639_037 ENSE00001102639 037 11 8122009 8122178 + 41 99 30 C T 8122148 346 140 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAATGTGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100600 8100601 8100601 exon -1 1 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAATGTGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 180 145 0 0 0 NA NA NA NA NA 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.461677298989611 -0.361887775103255 NA NA 0.411782537046433 0.865826729753499 -0.411782537046433 NA NA NA FALSE 0.009 -0.808 . splice_region_variant&synonymous_variant LOW TUB HGNC 12406 ENST00000534099 10/12 1 NA ACG C,T 2.471e-05 11:8100601 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 splice_region_variant 0.832642 0.88634 0.06199 0.67177 0.738357529439389 0 0.471428314326012 FALSE 3.25174e-05 ENSE00001102639_038 ENSE00001102639 038 11 8122009 8122178 + 41 99 30 T C 8122154 347 146 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGCGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100606 8100607 8100607 downstr_intron 6 1.20689655172414 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGCGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 76 38 0 0 0 20 41 0.108952360803445 0.00791340578203663 0.0584328832927407 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 -0.461677298989611 -0.361887775103255 -0.709060403601206 -0.90572728932031 0.411782537046433 0.865826729753499 -0.411782537046433 -0.807393846460758 0.395611309414325 TRUE FALSE 1 3.652 . splice_region_variant&intron_variant LOW TUB HGNC 12406 ENST00000534099 10/11 1 NA GTG T,C 8.237e-06 11:8100607 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 splice_region_variant 0.001664 0.94812 0.63015 0.069865 0.526055566259828 0.194046 0.471428314326012 FALSE NA ENSE00001102639_039 ENSE00001102639 039 11 8122009 8122178 + 41 99 30 G A 8122155 348 147 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTATCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 8100607 8100608 8100608 downstr_intron 7 1.24137931034483 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTATCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant NA NA NA NA NA 475 407 0.886111398193037 1 0.943055699096519 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA 0.0680986337883863 0.0863593048976538 0.411782537046433 0.865826729753499 NA 0.07722896934302 NA FALSE NA 0 -0.555 . splice_region_variant&intron_variant LOW TUB HGNC 12406 ENST00000534099 10/11 1 NA TGT T,A 1.647e-05 11:8100608 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 splice_region_variant -0.024705 0.23049 0.06899 0.069865 0.61381698946751 0.0776236 0.471428314326012 FALSE 2.84854e-05 ENSE00001102639_046 ENSE00001102639 046 11 8122009 8122178 + 41 99 30 C G 8122166 355 158 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTGCTCCCCTCTTTC 8100461 8100631 8100618 8100619 8100619 downstr_intron 18 1.62068965517241 ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTGCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC mutant 40 47 0.575634824865559 0.586929518831273 0.581282171848416 NA NA NA NA NA 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 0.113957525875948 0.225041743728018 NA NA 0.411782537046433 0.865826729753499 0.169499634801983 NA NA NA FALSE 0 1.036 . intron_variant MODIFIER TUB HGNC 12406 ENST00000534099 10/11 rs373867678 1 NA G:0 G:0.0002 TCC C,G 0.000173 11:8100619 TUB HGNC Symbol protein_coding 86868 ENSG00000166402 ENSE00001102639 intron_variant -0.434385 0.17559 0.09484 0.069865 0.320532984214369 0.0476178 0.471428314326012 FALSE 0.000159127 ENSE00001102639_BRK ENSE00001102639 BRK 11 8122009 8122178 + 41 99 30 A,G; T,T NA NA NA ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCTTGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACCCGAGTGTCTACCCCTTCCTCCCCTCTTTC 8100461 8100631 NA NA NA NA NA NA ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCTTGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACCCGAGTGTCTACCCCTTCCTCCCCTCTTTC ATAGACGCCTCAGGTGGCCAGTGTTGCGTTCTCTTTCCCAGGAGACAAACGTCTTAGGCTTCAAGGGGCCTCGGAAGATGAGCGTGATTGTCCCAGGCATGAACATGGTTCATGAGAGAGTCTCTATCCGCCCCCGCAACGTGAGTGTCTACCCCTTCCTCCCCTCTTTC control NA NA NA NA NA 2611 1203 0.00138179922167842 0.000265883826104751 0.000823841523891586 0.461677298989611 0.361887775103255 0.818012764404651 0.913640695102346 NA NA -0.816630965182973 -0.913374811276242 0.411782537046433 0.865826729753499 NA -0.865002888229607 NA TRUE NA NA NA NA NA NA TUB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUB NA NA NA ENSG00000166402 ENSE00001102639 NA NA NA NA NA NA NA 0.471428314326012 FALSE NA ENSE00001102735_000 ENSE00001102735 000 15 78447496 78447665 + 59 63 48 NA NA NA NA NA TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 NA NA NA NA NA NA TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG natural 14 13 0.997821537709982 1 0.998910768854991 2379 1767 0.982888708227273 0.838467656599962 0.910678182413618 0.997821537709982 1 0.982888708227273 0.838467656599962 0 0 0 0 0.998910768854991 0.910678182413618 0 0 0 FALSE FALSE NA NA NA NA NA IDH3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IDH3A NA NA NA ENSG00000166411 ENSE00003688101 NA NA NA NA NA NA NA 0.230948359529529 FALSE NA ENSE00001102735_001 ENSE00001102735 001 15 78447496 78447665 + 59 63 48 A G 78447507 2045 12 TTGTTTACTGTGTGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155164 78155165 78155165 upstr_intron -48 -0.796610169491525 TTGTTTACTGTGTGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 112 43 1 1 1 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.017111291772727 0.161532343400038 0.998910768854991 0.910678182413618 NA 0.0893218175863822 NA FALSE NA 0 -1.251 . intron_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 1/10 1 NA TAT A,G 8.236e-06 15:78155165 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 intron_variant -0.251906 0.06411 0.01141 0.080442 0.23061682184664 0.0650704 0.230948359529529 FALSE 4.17119e-06 ENSE00001102735_002 ENSE00001102735 002 15 78447496 78447665 + 59 63 48 G A 78447509 2046 14 TTGTTTACTGTATATGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155166 78155167 78155167 upstr_intron -46 -0.76271186440678 TTGTTTACTGTATATGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 311 296 0.948273656956349 1 0.974136828478175 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA -0.0346150512709238 0.161532343400038 0.998910768854991 0.910678182413618 NA 0.0634586460645569 NA FALSE NA 0 -0.008 . intron_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 1/10 1 NA TGT G,A 8.236e-06 15:78155167 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 intron_variant 0.282687 0.15314 0.02144 0.080442 0.536667314012617 0.125431 0.230948359529529 FALSE 4.17091e-06 ENSE00001102735_003 ENSE00001102735 003 15 78447496 78447665 + 59 63 48 G C 78447528 2047 33 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTCATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155185 78155186 78155186 upstr_intron -27 -0.440677966101695 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTCATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 238 215 0.992840222712538 0.992977218227484 0.992908720470011 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.00995151448526466 0.154509561627522 0.998910768854991 0.910678182413618 NA 0.0822305380563931 NA FALSE NA 0 -0.515 . intron_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 1/10 1 NA TGA G,C 8.236e-06 15:78155186 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 intron_variant -0.068093 0.23163 0.05575 0 0.418909172781645 0.125431 0.230948359529529 FALSE 4.10273e-06 ENSE00001102735_004 ENSE00001102735 004 15 78447496 78447665 + 59 63 48 A G 78447531 2048 36 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATGTTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155188 78155189 78155189 upstr_intron -24 -0.389830508474576 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATGTTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 104 287 0.999603621314976 1 0.999801810657488 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.0167149130877029 0.161532343400038 0.998910768854991 0.910678182413618 NA 0.0891236282438702 NA FALSE NA 0 -0.613 . intron_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 1/10 1 NA TAT A,G 2.471e-05 15:78155189 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 intron_variant -0.054799 0.21338 0.06027 0 0.466205283375419 0.200909 0.230948359529529 FALSE 1.22896e-05 ENSE00001102735_005 ENSE00001102735 005 15 78447496 78447665 + 59 63 48 T C 78447532 2049 37 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATACTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155189 78155190 78155190 upstr_intron -23 -0.372881355932203 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATACTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 735 145 0.999044244815097 1 0.999522122407549 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.0161555365878242 0.161532343400038 0.998910768854991 0.910678182413618 NA 0.0888439399939309 NA FALSE NA 0.687 0.421 . intron_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 1/10 rs375064605 1 NA C:0 C:0.0006 ATT T,C 0.0001153 15:78155190 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 intron_variant 0.269595 0.29784 0.44331 0 0.63105553869607 0.207572 0.230948359529529 FALSE 0.000126935 ENSE00001102735_006 ENSE00001102735 006 15 78447496 78447665 + 59 63 48 G A 78447539 2050 44 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTATTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155196 78155197 78155197 upstr_intron -16 -0.254237288135593 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTATTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant 34 50 0.831875524637196 0.877558886602092 0.854717205619644 329 601 0.986780471983375 0.990676226868614 0.988728349425995 0.997821537709982 1 0.982888708227273 0.838467656599962 -0.165946013072785 -0.122441113397908 0.00389176375610234 0.152208570268652 0.998910768854991 0.910678182413618 -0.144193563235346 0.078050167012377 0.222243730247723 FALSE FALSE 0.888 0.419 . intron_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 1/10 rs552518719 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGT G,A 8.236e-06 15:78155197 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 intron_variant 0.913038 0.8395 0.68516 0 0.623352948952109 0.326996 0.230948359529529 FALSE 4.0806e-06 ENSE00001102735_007 ENSE00001102735 007 15 78447496 78447665 + 59 63 48 T C 78447550 2051 55 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAACATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155207 78155208 78155208 upstr_intron -5 -0.0677966101694915 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAACATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 1025 1151 0.999700863529075 0.998623461266172 0.999162162397624 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.0168121553018024 0.16015580466621 0.998910768854991 0.910678182413618 NA 0.0884839799840061 NA FALSE NA 0 0.193 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW IDH3A HGNC 5384 ENST00000559889 1/10 1 NA ATA T,C 8.236e-06 15:78155208 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 splice_region_variant -0.179866 0.24139 0.11946 0 0.551870732362026 0.407044 0.230948359529529 FALSE 4.06474e-06 ENSE00001102735_008 ENSE00001102735 008 15 78447496 78447665 + 59 63 48 A G 78447551 2052 56 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATGTAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155208 78155209 78155209 upstr_intron -4 -0.0508474576271186 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATGTAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant 10 17 0.973340628344062 0.85 0.911670314172031 NA NA NA NA NA 0.997821537709982 1 0.982888708227273 0.838467656599962 -0.0244809093659192 -0.15 NA NA 0.998910768854991 0.910678182413618 -0.0872404546829596 NA NA NA FALSE 0 -1.195 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW IDH3A HGNC 5384 ENST00000559889 1/10 1 NA TAT A,G 9.06e-05 15:78155209 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 splice_region_variant -0.280362 0.16771 0.00561 0 0.507342412158459 0.360127 0.230948359529529 FALSE 0.000203234 ENSE00001102735_009 ENSE00001102735 009 15 78447496 78447665 + 59 63 48 C T 78447561 2053 66 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTTGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155218 78155219 78155219 exon 7 0.111111111111111 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTTGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 40 313 0.937422421475066 0.993697795332324 0.965560108403695 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA -0.0454662867522071 0.155230138732362 0.998910768854991 0.910678182413618 NA 0.0548819259900774 NA FALSE NA 1 3.06 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 2/11 1 NA TCG C,T 2.471e-05 15:78155219 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 missense_variant 4.949243 0.99292 0.96316 0.706298 0.998681738832457 0 0.230948359529529 FALSE 1.21889e-05 ENSE00001102735_012 ENSE00001102735 012 15 78447496 78447665 + 59 63 48 G A 78447572 2056 77 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGAGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155229 78155230 78155230 exon 18 0.285714285714286 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGAGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 54 115 1 1 1 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.017111291772727 0.161532343400038 0.998910768854991 0.910678182413618 NA 0.0893218175863822 NA FALSE NA 1 0.89 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 2/11 1 NA GGG G,A 8.236e-06 15:78155230 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 synonymous_variant 1.02693 0.9667 0.8119 0.706298 0.608944451359118 0 0.230948359529529 FALSE 4.06279e-06 ENSE00001102735_013 ENSE00001102735 013 15 78447496 78447665 + 59 63 48 A C 78447589 2057 94 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAACACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155246 78155247 78155247 exon -29 0.555555555555556 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAACACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 499 1524 0.995361057850452 1 0.997680528925226 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.0124723496231791 0.161532343400038 0.998910768854991 0.910678182413618 NA 0.0870023465116083 NA FALSE NA 1 5.514 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 2/11 1 NA AAA A,C 8.236e-06 15:78155247 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 missense_variant 1.921524 0.99026 0.98227 0.706298 0.997216074002302 0 0.230948359529529 FALSE 4.06263e-06 ENSE00001102735_015 ENSE00001102735 015 15 78447496 78447665 + 59 63 48 T C 78447617 2059 122 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGCGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155274 78155275 78155275 exon -1 1 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGCGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 104 556 1 0.998340152580257 0.999170076290128 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.017111291772727 0.159872495980294 0.998910768854991 0.910678182413618 NA 0.0884918938765107 NA FALSE NA 1 0.3 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW IDH3A HGNC 5384 ENST00000559889 2/11 1 NA GTG T,C 8.236e-06 15:78155275 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 splice_region_variant 1.542918 0.9594 0.85256 0.706298 0.780311539476921 0 0.230948359529529 FALSE NA ENSE00001102735_017 ENSE00001102735 017 15 78447496 78447665 + 59 63 48 G A 78447620 2061 125 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTAAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155277 78155278 78155278 downstr_intron 3 1.06382978723404 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTAAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 55 29 1 1 1 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.017111291772727 0.161532343400038 0.998910768854991 0.910678182413618 NA 0.0893218175863822 NA FALSE NA 1 5.609 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW IDH3A HGNC 5384 ENST00000559889 2/10 rs528278653 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGA G,A 8.236e-06 15:78155278 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 splice_region_variant 2.175019 0.99293 0.99132 0 0.973997201742957 0.988841 0.230948359529529 FALSE 8.1412e-06 ENSE00001102735_018 ENSE00001102735 018 15 78447496 78447665 + 59 63 48 A G 78447624 2062 129 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTGTAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155281 78155282 78155282 downstr_intron 7 1.14893617021277 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTGTAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 75 128 0.974419579891708 0.986099942855503 0.980259761373605 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA -0.00846912833556546 0.147632286255541 0.998910768854991 0.910678182413618 NA 0.0695815789599876 NA FALSE NA 1 5.326 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW IDH3A HGNC 5384 ENST00000559889 2/10 1 NA TAT A,G 8.236e-06 15:78155282 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 splice_region_variant 2.024692 0.99143 0.99067 0 0.972306302629125 0.986445 0.230948359529529 FALSE 4.0822e-06 ENSE00001102735_019 ENSE00001102735 019 15 78447496 78447665 + 59 63 48 T C 78447628 2063 133 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAACTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155285 78155286 78155286 downstr_intron 11 1.23404255319149 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAACTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 56 92 0.999262791285645 1 0.999631395642822 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.016374083058372 0.161532343400038 0.998910768854991 0.910678182413618 NA 0.0889532132292047 NA FALSE NA 1 1.164 . intron_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 2/10 1 NA ATT T,C 8.237e-06 15:78155286 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 non_coding_transcript_exon_variant 2.275969 0.95876 0.83126 0 0.827655425735497 0.676773 0.230948359529529 FALSE NA ENSE00001102735_020 ENSE00001102735 020 15 78447496 78447665 + 59 63 48 T C 78447631 2064 136 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTACGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG 78155153 78155323 78155288 78155289 78155289 downstr_intron 14 1.29787234042553 TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTACGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG TTGTTTACTGTATGTGGTTTAATTCTGTGTGTGATATTTCTCTGTTGATATTAATATAGGTCTCTCGGCTGCTGGGGGCATTCCACAACCCAAAACAGGTGACCAGAGGTTTTACTGGTGGTGTGAGTATAATTATGTCTTTTATTTTTTCCTTTTAGAAGTTTCTCAAG mutant NA NA NA NA NA 289 680 1 0.99976735256171 0.999883676280855 0.997821537709982 1 0.982888708227273 0.838467656599962 NA NA 0.017111291772727 0.161299695961747 0.998910768854991 0.910678182413618 NA 0.089205493867237 NA FALSE NA 0.003 -0.599 . intron_variant&non_coding_transcript_variant MODIFIER IDH3A HGNC 5384 ENST00000559889 2/10 1 NA ATG T,C 8.236e-06 15:78155289 IDH3A HGNC Symbol protein_coding 40451 ENSG00000166411 ENSE00003688101 non_coding_transcript_exon_variant 1.512865 0.12548 0.01676 0 0.651228093397834 0.575121 0.230948359529529 FALSE 4.16674e-06 ENSE00001102771_000 ENSE00001102771 000 15 78475008 78475177 - 39 81 50 NA NA NA NA NA ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 NA NA NA NA NA NA AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT natural NA NA NA NA NA 647 724 0.97054916009974 0.951097847277446 0.960823503688593 NA NA 0.97054916009974 0.951097847277446 NA NA 0 0 NA 0.960823503688593 NA 0 NA FALSE NA NA NA NA NA NA ACSBG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSBG1 NA NA NA ENSG00000103740 ENSE00003507947 NA NA NA NA NA NA NA 0.00670029816274961 FALSE NA ENSE00001102771_001 ENSE00001102771 001 15 78475008 78475177 - 39 81 50 C T 78475018 2068 160 ATAGGCCCCATCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182675 78182676 78182676 downstr_intron 29 1.76315789473684 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGATGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 202 1830 1 0.998636694338837 0.999318347169418 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0294508399002602 0.0475388470613908 NA 0.960823503688593 NA 0.0384948434808255 NA FALSE NA 0 -0.709 . intron_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/9 1 NA ACC C,T 8.236e-06 15:78182676 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 intron_variant 0.288201 0.20221 0.0403 0.074636 0.528537418843545 0.0826832 0.00670029816274961 FALSE 4.0627e-06 ENSE00001102771_003 ENSE00001102771 003 15 78475008 78475177 - 39 81 50 G A 78475024 2070 154 ATAGGCCCCACCTGGCACCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182681 78182682 78182682 downstr_intron 23 1.60526315789474 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGTGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 14 16 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.97054916009974 0.951097847277446 NA NA NA NA NA 0.960823503688593 NA NA NA NA NA 0 -0.17 . intron_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/9 1 NA CGC G,A 8.236e-06 15:78182682 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 intron_variant -0.111635 0.15241 0.0099 0.074636 0.562502202758626 0.0826832 0.00670029816274961 FALSE 4.06246e-06 ENSE00001102771_006 ENSE00001102771 006 15 78475008 78475177 - 39 81 50 C A 78475037 2073 141 ATAGGCCCCACCTGGCGCCCAGGGCCCCAATGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182694 78182695 78182695 downstr_intron 10 1.26315789473684 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCATTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 116 171 1 1 1 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0294508399002602 0.0489021527225537 NA 0.960823503688593 NA 0.039176496311407 NA FALSE NA 0 -2.637 NA NA NA ACSBG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:78182695 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 intron_variant 1.777344 0.24433 0.01194 0.074636 0.753909414066011 0.0674089 0.00670029816274961 FALSE 1.21841e-05 ENSE00001102771_009 ENSE00001102771 009 15 78475008 78475177 - 39 81 50 C A 78475047 2076 131 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACAGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182704 78182705 78182705 exon -1 1 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACTGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 273 412 0 0 0 NA NA NA NA NA NA NA 0.97054916009974 0.951097847277446 NA NA NA NA NA 0.960823503688593 NA NA NA NA NA 1 0.984 rs138877360 splice_region_variant&synonymous_variant LOW ACSBG1 HGNC 29567 ENST00000560817 2/10 rs138877360 1 NA A:0.0002 A:0 CCG C,A 8.236e-06 15:78182705 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 splice_region_variant 2.855102 0.98217 0.90849 0.638212 0.940168920834125 0 0.00670029816274961 FALSE 4.06085e-06 ENSE00001102771_010 ENSE00001102771 010 15 78475008 78475177 - 39 81 50 G A 78475048 2077 130 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCATGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182705 78182706 78182706 exon -2 0.987654320987654 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACATGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 58 94 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.97054916009974 0.951097847277446 NA NA NA NA NA 0.960823503688593 NA NA NA NA NA 1 5.088 . missense_variant&splice_region_variant MODERATE ACSBG1 HGNC 29567 ENST00000560817 2/10 COSM2010976 1 deleterious(0.04) probably_damaging(0.996) NA CGT G,A 1.647e-05 15:78182706 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 missense_variant 6.439743 0.98692 0.97446 0.638212 0.998681246034851 0 0.00670029816274961 FALSE 1.62434e-05 ENSE00001102771_012 ENSE00001102771 012 15 78475008 78475177 - 39 81 50 G A 78475050 2079 128 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTATACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182707 78182708 78182708 exon -4 0.962962962962963 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTATACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 197 670 1 0.992879242408268 0.996439621204134 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0294508399002602 0.0417813951308212 NA 0.960823503688593 NA 0.0356161175155407 NA FALSE NA 1 1.71 . synonymous_variant LOW ACSBG1 HGNC 29567 ENST00000560817 2/10 COSM434362 1 NA TGT G,A 8.236e-06 15:78182708 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 synonymous_variant 0.741104 0.97321 0.85765 0.638212 0.608476382025183 0 0.00670029816274961 FALSE 4.06078e-06 ENSE00001102771_013 ENSE00001102771 013 15 78475008 78475177 - 39 81 50 T C 78475051 2080 127 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGCACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182708 78182709 78182709 exon -5 0.950617283950617 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTGCACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 205 76 0.98244063584257 0.8 0.891220317921285 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0118914757428302 -0.151097847277446 NA 0.960823503688593 NA -0.069603185767308 NA FALSE NA 1 5.629 . missense_variant MODERATE ACSBG1 HGNC 29567 ENST00000560817 2/10 1 deleterious(0) probably_damaging(0.986) NA GTA T,C 8.236e-06 15:78182709 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 missense_variant 5.457149 0.98777 0.98045 0.638212 0.997996068409013 0 0.00670029816274961 FALSE 4.06072e-06 ENSE00001102771_016 ENSE00001102771 016 15 78475008 78475177 - 39 81 50 T G 78475057 2083 121 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACAGTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182714 78182715 78182715 exon -11 0.876543209876543 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCACTGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 536 129 1 0.998772026960741 0.99938601348037 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0294508399002602 0.0476741796832943 NA 0.960823503688593 NA 0.0385625097917773 NA FALSE NA 0.935 1.486 NA NA NA ACSBG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:78182715 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 missense_variant 3.413786 0.95683 0.9214 0.638212 0.974280586784179 0 0.00670029816274961 FALSE 8.1215e-06 ENSE00001102771_017 ENSE00001102771 017 15 78475008 78475177 - 39 81 50 C T 78475062 2084 116 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCTATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182719 78182720 78182720 exon -16 0.814814814814815 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATAGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 18 30 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.97054916009974 0.951097847277446 NA NA NA NA NA 0.960823503688593 NA NA NA NA NA 0.476 0.001 . start_lost LOW ACSBG1 HGNC 29567 ENST00000560817 2/10 1 tolerated_low_confidence(0.31) benign(0.002) NA CCA C,T 8.236e-06 15:78182720 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 start_lost 0.841059 0.54186 0.12676 0.638212 0.892685259629202 0 0.00670029816274961 FALSE 4.06072e-06 ENSE00001102771_023 ENSE00001102771 023 15 78475008 78475177 - 39 81 50 G A 78475075 2090 103 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAAGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182732 78182733 78182733 exon -29 0.654320987654321 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCTTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 160 223 0.904162425611522 0.99002624311186 0.947094334361691 NA NA 0.97054916009974 0.951097847277446 NA NA -0.0663867344882175 0.0389283958344138 NA 0.960823503688593 NA -0.0137291693269019 NA FALSE NA 0.477 3.724 . 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 1 NA AGG G,A 8.236e-06 15:78182733 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 missense_variant 0.808843 0.45213 0.19002 0.638212 0.327150919418945 0 0.00670029816274961 FALSE 4.06075e-06 ENSE00001102771_024 ENSE00001102771 024 15 78475008 78475177 - 39 81 50 G T 78475079 2091 99 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGTTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182736 78182737 78182737 exon -33 0.604938271604938 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAAACTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 18 229 1 0.943596173912912 0.971798086956456 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0294508399002602 -0.00750167336453444 NA 0.960823503688593 NA 0.0109745832678629 NA FALSE NA 0 -0.35 . 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 1 NA GGT G,T 1.647e-05 15:78182737 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 missense_variant -0.688135 0.22727 0.06555 0.638212 0.598213656533323 0 0.00670029816274961 FALSE 2.8425e-05 ENSE00001102771_026 ENSE00001102771 026 15 78475008 78475177 - 39 81 50 C T 78475094 2093 84 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCATGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182751 78182752 78182752 exon 34 0.419753086419753 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCATGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 122 181 0.86989821517649 0.85 0.859949107588245 NA NA NA NA NA NA NA 0.97054916009974 0.951097847277446 NA NA NA NA NA 0.960823503688593 NA NA NA NA NA 0.997 3.517 . 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 1 NA ACG C,T 3.295e-05 15:78182752 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 missense_variant 6.927514 0.99008 0.96701 0.638212 0.999089430273916 0 0.00670029816274961 FALSE 1.21824e-05 ENSE00001102771_027 ENSE00001102771 027 15 78475008 78475177 - 39 81 50 G A 78475095 2094 83 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACAACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182752 78182753 78182753 exon 33 0.407407407407407 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTTGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 25 31 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.97054916009974 0.951097847277446 NA NA NA NA NA 0.960823503688593 NA NA NA NA NA 0 -1.958 rs139747957 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 rs139747957 1 NA A:0.0018 A:0.0001 CGA G,A 0.0001977 15:78182753 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 synonymous_variant 1.828545 0.22971 0.03401 0.638212 0.714017243982273 0 0.00670029816274961 FALSE 0.000154312 ENSE00001102771_028 ENSE00001102771 028 15 78475008 78475177 - 39 81 50 C T 78475100 2095 78 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGTCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182757 78182758 78182758 exon 28 0.345679012345679 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGACAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 11 12 0.973167131298173 0.995109300986468 0.98413821614232 NA NA NA NA NA NA NA 0.97054916009974 0.951097847277446 NA NA NA NA NA 0.960823503688593 NA NA NA NA NA 1 7.169 rs143112275 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 rs143112275 1 NA T:0.0005 T:0 GCC C,T 8.236e-06 15:78182758 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 missense_variant 7.337798 0.99426 0.98977 0.638212 0.998726578660752 0 0.00670029816274961 FALSE 4.06081e-06 ENSE00001102771_029 ENSE00001102771 029 15 78475008 78475177 - 39 81 50 C T 78475101 2096 77 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCTTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182758 78182759 78182759 exon 27 0.333333333333333 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAAGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 330 311 0.962324078189939 1 0.98116203909497 NA NA 0.97054916009974 0.951097847277446 NA NA -0.00822508190980054 0.0489021527225537 NA 0.960823503688593 NA 0.0203385354063766 NA FALSE NA 1 1.695 . 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 1 NA CCT C,T 8.236e-06 15:78182759 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 synonymous_variant 2.372875 0.98367 0.75684 0.638212 0.701133743579106 0 0.00670029816274961 FALSE 4.06085e-06 ENSE00001102771_030 ENSE00001102771 030 15 78475008 78475177 - 39 81 50 T C 78475104 2097 74 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTCAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182761 78182762 78182762 exon 24 0.296296296296296 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTGAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 551 61 0.992243081117327 1 0.996121540558663 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0216939210175872 0.0489021527225537 NA 0.960823503688593 NA 0.0352980368700704 NA FALSE NA 1 0.826 rs187035375 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 rs187035375 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 TTA T,C 1.647e-05 15:78182762 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 stop_retained_variant 0.876889 0.96083 0.15975 0.638212 0.822955439471082 0 0.00670029816274961 FALSE 1.21825e-05 ENSE00001102771_031 ENSE00001102771 031 15 78475008 78475177 - 39 81 50 A T 78475105 2098 73 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTTGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182762 78182763 78182763 exon 23 0.283950617283951 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCAAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 38 23 1 1 1 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0294508399002602 0.0489021527225537 NA 0.960823503688593 NA 0.039176496311407 NA FALSE NA 1 8.579 . 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 1 NA TAG A,T 8.236e-06 15:78182763 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 stop_lost 6.207242 0.99288 0.99371 0.638212 0.536599943166743 0 0.00670029816274961 FALSE 4.06085e-06 ENSE00001102771_034 ENSE00001102771 034 15 78475008 78475177 - 39 81 50 A G 78475115 2101 63 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAGCTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182772 78182773 78182773 exon 13 0.160493827160494 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGCTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 782 1460 0.975079510154701 0.88631783067442 0.930698670414561 NA NA 0.97054916009974 0.951097847277446 NA NA 0.00453035005496161 -0.0647800166030266 NA 0.960823503688593 NA -0.0301248332740325 NA FALSE NA 0.998 3.058 . 5_prime_UTR_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 2/10 1 NA AAC A,G 1.647e-05 15:78182773 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 synonymous_variant 0.32404 0.41126 0.17003 0.638212 0.495898153436864 0 0.00670029816274961 FALSE 6.09152e-05 ENSE00001102771_036 ENSE00001102771 036 15 78475008 78475177 - 39 81 50 C G 78475128 2103 50 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATGTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182785 78182786 78182786 upstr_intron -1 0 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCACATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 95 44 0 0 0 NA NA 0.97054916009974 0.951097847277446 NA NA -0.97054916009974 -0.951097847277446 NA 0.960823503688593 NA -0.960823503688593 NA TRUE NA 1 7.08 . splice_acceptor_variant HIGH ACSBG1 HGNC 29567 ENST00000560817 1/9 1 NA HC TCT C,G 8.236e-06 15:78182786 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 splice_acceptor_variant 4.420206 0.99434 0.99558 0.074636 0.993219901380265 0.97134 0.00670029816274961 FALSE 8.12499e-06 ENSE00001102771_038 ENSE00001102771 038 15 78475008 78475177 - 39 81 50 T G 78475134 2105 44 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATGGACAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182791 78182792 78182792 upstr_intron -7 -0.12 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCCATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 122 71 0.995530551858611 1 0.997765275929305 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0249813917588712 0.0489021527225537 NA 0.960823503688593 NA 0.0369417722407124 NA FALSE NA 0 -2.055 . splice_region_variant&intron_variant LOW ACSBG1 HGNC 29567 ENST00000560817 1/9 1 NA TTG T,G 3.295e-05 15:78182792 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 splice_region_variant -0.298695 0.21918 0.03415 0.061011 0.448886393109395 0.134258 0.00670029816274961 FALSE 1.62551e-05 ENSE00001102771_039 ENSE00001102771 039 15 78475008 78475177 - 39 81 50 C G 78475137 2106 41 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGAGAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182794 78182795 78182795 upstr_intron -10 -0.18 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTCTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 158 806 0.995756550406557 1 0.997878275203279 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0252073903068174 0.0489021527225537 NA 0.960823503688593 NA 0.0370547715146856 NA FALSE NA 0 -0.089 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:78182795 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 non_coding_transcript_exon_variant -0.207665 0.25505 0.08268 0.061011 0.334084488086122 0.0868455 0.00670029816274961 FALSE 4.06461e-06 ENSE00001102771_040 ENSE00001102771 040 15 78475008 78475177 - 39 81 50 C T 78475137 2107 41 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGATAGGAAAAATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182794 78182795 78182795 upstr_intron -10 -0.18 AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTATCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 1584 1358 0.999479224831637 0.998984705374433 0.999231965103035 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0289300647318974 0.047886858096987 NA 0.960823503688593 NA 0.0384084614144422 NA FALSE NA 0 -0.089 NA NA NA ACSBG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSBG1 NA NA NA ENSG00000103740 ENSE00003507947 non_coding_transcript_exon_variant -0.082916 0.23837 0.02974 0.061011 0.335684463002049 0.0868455 0.00670029816274961 FALSE 8.12922e-06 ENSE00001102771_041 ENSE00001102771 041 15 78475008 78475177 - 39 81 50 A C 78475144 2108 34 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAACATAGATCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182801 78182802 78182802 upstr_intron -17 -0.32 AGGTGACATTTCTCTTACTGAAACCTGATCTATGTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 219 451 0.847493079812324 0.85 0.848746539906162 1705 46 0.783665862800527 0.929775936338574 0.856720899569551 NA NA 0.97054916009974 0.951097847277446 NA NA -0.186883297299213 -0.021321910938872 NA 0.960823503688593 NA -0.104102604119042 NA FALSE NA 0 0.018 . intron_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 1/9 1 NA AAA A,C 2.471e-05 15:78182802 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 non_coding_transcript_exon_variant -0.555395 0.2133 0.06014 0.061011 0.424385400355761 0.0683494 0.00670029816274961 FALSE 2.44004e-05 ENSE00001102771_042 ENSE00001102771 042 15 78475008 78475177 - 39 81 50 A T 78475149 2109 29 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGTTCAGGTTTCAGTAAGAGAAATGTCACCT 78182665 78182835 78182806 78182807 78182807 upstr_intron -22 -0.42 AGGTGACATTTCTCTTACTGAAACCTGAACTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant 54 57 0.85 0.901949869665993 0.875974934832997 2086 226 0.973548826719309 0.964489261399793 0.969019044059551 NA NA 0.97054916009974 0.951097847277446 NA NA 0.00299966661956907 0.013391414122347 NA 0.960823503688593 NA 0.00819554037095804 NA FALSE NA 0.003 0.702 . intron_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 1/9 1 NA GAT A,T 8.236e-06 15:78182807 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 non_coding_transcript_exon_variant -0.038762 0.2462 0.02978 0.061011 0.423350165116299 0.0683494 0.00670029816274961 FALSE 4.0705e-06 ENSE00001102771_043 ENSE00001102771 043 15 78475008 78475177 - 39 81 50 A G 78475167 2110 11 ATAGGCCCCACCTGGCGCCCAGGGCCCCACTGCCCATACCGTGTACACATTGGCCATCTTGTTTGGAGGAGGTTCTTTATATATCACGACTGCCTTTAGATGTGGCAACTGTTTCCAGATCTGCATTGACAGGAAAAATAGATCAGGTTTCAGTAAGAGGAATGTCACCT 78182665 78182835 78182824 78182825 78182825 upstr_intron -40 -0.78 AGGTGACATTCCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT mutant NA NA NA NA NA 1445 136 0.999893936125563 0.929480047894337 0.96468699200995 NA NA 0.97054916009974 0.951097847277446 NA NA 0.0293447760258229 -0.0216177993831093 NA 0.960823503688593 NA 0.0038634883213568 NA FALSE NA 0.468 0.308 . intron_variant MODIFIER ACSBG1 HGNC 29567 ENST00000560817 1/9 1 NA GAA A,G 8.236e-06 15:78182825 ACSBG1 HGNC Symbol protein_coding 78220 ENSG00000103740 ENSE00003507947 non_coding_transcript_exon_variant -0.140206 0.19274 0.26195 0.061011 0.488626141559029 0.0674089 0.00670029816274961 FALSE 8.20075e-06 ENSE00001102771_BRK ENSE00001102771 BRK 15 78475008 78475177 - 39 81 50 A,G; T,T NA NA NA AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCTTATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGCCATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT 78182665 78182835 NA NA NA NA NA NA AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCTTATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGCCATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT AGGTGACATTTCTCTTACTGAAACCTGATCTATTTTTCCTGTCAATGCAGATCTGGAAACAGTTGCCACATCTAAAGGCAGTCGTGATATATAAAGAACCTCCTCCAAACAAGATGGCCAATGTGTACACGGTATGGGCAGTGGGGCCCTGGGCGCCAGGTGGGGCCTAT control 36 230 0 0 0 1819 2373 0.00394154750691739 0.000288861778377633 0.00211520464264751 NA NA 0.97054916009974 0.951097847277446 NA NA -0.966607612592822 -0.950808985499069 NA 0.960823503688593 NA -0.958708299045945 NA TRUE NA NA NA NA NA NA ACSBG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSBG1 NA NA NA ENSG00000103740 ENSE00003507947 NA NA NA NA NA NA NA 0.00670029816274961 FALSE NA ENSE00001103714_000 ENSE00001103714 000 11 78270546 78270715 - 39 81 50 NA NA NA NA NA GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 NA NA NA NA NA NA GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT natural 78 47 0.997736906575387 0.994011692571538 0.995874299573463 6651 6294 0.936740801581839 0.965227289887651 0.950984045734745 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 0 0 0 0 0.995874299573463 0.950984045734745 0 0 0 FALSE FALSE NA NA NA NA NA NARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NARS2 NA NA NA ENSG00000137513 ENSE00003522365 NA NA NA NA NA NA NA 0.000838255657065933 FALSE NA ENSE00001103714_003 ENSE00001103714 003 11 78270546 78270715 - 39 81 50 A C 78270573 2227 143 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCGTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559526 78559527 78559527 downstr_intron 12 1.31578947368421 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCGTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 164 1855 1 0.981492127382031 0.990746063691015 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0632591984181611 0.0162648374943795 0.995874299573463 0.950984045734745 NA 0.0397620179562703 NA FALSE NA 0.52 0.838 . intron_variant MODIFIER NARS2 HGNC 26274 ENST00000529880 5/5 1 NA AAG A,C 8.236e-06 11:78559527 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 intron_variant 1.855213 0.30893 0.123 0.163922 0.904345041239919 0.30585 0.000838255657065933 FALSE 4.07475e-06 ENSE00001103714_004 ENSE00001103714 004 11 78270546 78270715 - 39 81 50 T C 78270591 2228 125 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAGCTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559544 78559545 78559545 exon -7 0.925925925925926 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAGCTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 177 259 1 1 1 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0632591984181611 0.0347727101123486 0.995874299573463 0.950984045734745 NA 0.0490159542652548 NA FALSE NA 0.997 0.773 . synonymous_variant LOW NARS2 HGNC 26274 ENST00000529880 5/6 rs34384168 1 NA GTT T,C 1.647e-05 11:78559545 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 synonymous_variant 0.068114 0.97113 0.64682 0.732398 0.868518728793276 0 0.000838255657065933 FALSE 1.62731e-05 ENSE00001103714_005 ENSE00001103714 005 11 78270546 78270715 - 39 81 50 A G 78270595 2229 121 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTCTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559548 78559549 78559549 exon -11 0.876543209876543 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTCTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 411 1046 1 1 1 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0632591984181611 0.0347727101123486 0.995874299573463 0.950984045734745 NA 0.0490159542652548 NA FALSE NA 1 8.411 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 1 deleterious(0) probably_damaging(1) NA AAA A,G 8.236e-06 11:78559549 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 6.87785 0.99083 0.98738 0.732398 0.998882114200552 0 0.000838255657065933 FALSE 4.06825e-06 ENSE00001103714_006 ENSE00001103714 006 11 78270546 78270715 - 39 81 50 C G 78270604 2230 112 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGCAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559557 78559558 78559558 exon -20 0.765432098765432 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGCAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 314 324 0.997482886323914 1 0.998741443161957 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0607420847420747 0.0347727101123486 0.995874299573463 0.950984045734745 NA 0.0477573974272116 NA FALSE NA 1 7.041 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 1 deleterious(0) probably_damaging(0.999) NA TCC C,G 8.236e-06 11:78559558 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 6.37153 0.99317 0.98489 0.732398 0.99759333664255 0 0.000838255657065933 FALSE 4.06633e-06 ENSE00001103714_007 ENSE00001103714 007 11 78270546 78270715 - 39 81 50 G C 78270607 2231 109 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGGTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559560 78559561 78559561 exon -23 0.728395061728395 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGGTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 54 347 1 1 1 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0632591984181611 0.0347727101123486 0.995874299573463 0.950984045734745 NA 0.0490159542652548 NA FALSE NA 1 7.048 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 rs548096482 1 deleterious(0.03) possibly_damaging(0.812) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AGC G,C 8.236e-06 11:78559561 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 6.061648 0.99328 0.98312 0.732398 0.998017002792826 0 0.000838255657065933 FALSE 4.06716e-06 ENSE00001103714_008 ENSE00001103714 008 11 78270546 78270715 - 39 81 50 G C 78270616 2232 100 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTGTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559569 78559570 78559570 exon -32 0.617283950617284 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTGTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 219 189 0.986430156750214 0.999798387260737 0.993114272005476 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0496893551683754 0.0345710973730857 0.995874299573463 0.950984045734745 NA 0.0421302262707305 NA FALSE NA 1 5.365 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 1 tolerated(1) benign(0.002) NA AGA G,C 8.236e-06 11:78559570 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 0.847151 0.97433 0.12287 0.732398 0.775708742537308 0 0.000838255657065933 FALSE 8.13087e-06 ENSE00001103714_010 ENSE00001103714 010 11 78270546 78270715 - 39 81 50 T C 78270622 2234 94 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAGTGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559575 78559576 78559576 exon -38 0.54320987654321 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAGTGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 939 597 0.997071013467455 0.998056784794521 0.997563899130988 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0603302118856156 0.0328294949068697 0.995874299573463 0.950984045734745 NA 0.0465798533962427 NA FALSE NA 1 7.236 rs148482253 missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 rs148482253 1 tolerated(0.79) probably_damaging(0.931) NA C:0.0009 C:0 ATT T,C 0.0001153 11:78559576 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 2.341856 0.99048 0.97835 0.732398 0.990895750460031 0 0.000838255657065933 FALSE 9.75697e-05 ENSE00001103714_011 ENSE00001103714 011 11 78270546 78270715 - 39 81 50 T C 78270632 2235 84 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAGTCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559585 78559586 78559586 exon 34 0.419753086419753 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAGTCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 220 886 1 1 1 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0632591984181611 0.0347727101123486 0.995874299573463 0.950984045734745 NA 0.0490159542652548 NA FALSE NA 1 5.543 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 1 deleterious(0.02) possibly_damaging(0.812) NA ATT T,C 8.236e-06 11:78559586 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 3.358773 0.98469 0.95989 0.732398 0.998794189121643 0 0.000838255657065933 FALSE 8.13121e-06 ENSE00001103714_013 ENSE00001103714 013 11 78270546 78270715 - 39 81 50 T C 78270635 2237 81 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAGTAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559588 78559589 78559589 exon 31 0.382716049382716 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAGTAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 617 239 0.99818507603581 0.996418119975154 0.997301598005482 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0614442744539709 0.0311908300875026 0.995874299573463 0.950984045734745 NA 0.0463175522707368 NA FALSE NA 0.001 -0.453 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 rs372086134 1 tolerated(0.23) benign(0.107) NA C:0.0002 C:0 ATT T,C 4.118e-05 11:78559589 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 0.824223 0.89862 0.07193 0.732398 0.942801684519009 0 0.000838255657065933 FALSE 5.69203e-05 ENSE00001103714_014 ENSE00001103714 014 11 78270546 78270715 - 39 81 50 G C 78270650 2238 66 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTAGATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559603 78559604 78559604 exon 16 0.197530864197531 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTAGATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 1013 31 0.998116108080679 0.952097844345385 0.975106976213032 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0613753064988403 -0.0131294455422661 0.995874299573463 0.950984045734745 NA 0.0241229304782871 NA FALSE NA 1 6.992 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 1 deleterious(0.04) possibly_damaging(0.643) NA TGT G,C 8.236e-06 11:78559604 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 6.242854 0.99304 0.98359 0.732398 0.990185176790182 0 0.000838255657065933 FALSE 1.22131e-05 ENSE00001103714_015 ENSE00001103714 015 11 78270546 78270715 - 39 81 50 A G 78270655 2239 61 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTCTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559608 78559609 78559609 exon 11 0.135802469135802 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTCTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 682 613 0.962917118007027 0.998966604840596 0.980941861423811 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0261763164251876 0.0337393149529444 0.995874299573463 0.950984045734745 NA 0.029957815689066 NA FALSE NA 1 2.902 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 1 deleterious(0) probably_damaging(0.925) NA AAA A,G 8.236e-06 11:78559609 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 6.191913 0.97644 0.951 0.732398 0.998646125889505 0 0.000838255657065933 FALSE 8.14392e-06 ENSE00001103714_016 ENSE00001103714 016 11 78270546 78270715 - 39 81 50 C T 78270659 2240 57 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTAGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559612 78559613 78559613 exon 7 0.0864197530864197 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTAGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant 61 147 0.85 0.85 0.85 NA NA NA NA NA 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 -0.147736906575387 -0.144011692571538 NA NA 0.995874299573463 0.950984045734745 -0.145874299573463 NA NA NA FALSE 1 7.027 . missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 1 deleterious(0.04) possibly_damaging(0.734) NA CCA C,T 8.236e-06 11:78559613 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 6.825868 0.99255 0.99225 0.732398 0.998102171581195 0 0.000838255657065933 FALSE 4.07767e-06 ENSE00001103714_017 ENSE00001103714 017 11 78270546 78270715 - 39 81 50 T C 78270662 2241 54 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACGGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559615 78559616 78559616 exon 4 0.0493827160493827 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACGGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 354 237 1 1 1 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0632591984181611 0.0347727101123486 0.995874299573463 0.950984045734745 NA 0.0490159542652548 NA FALSE NA 0.999 2.772 rs142593807 missense_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 rs142593807 1 tolerated(0.05) benign(0.145) NA C:0 C:0.0002 CTG T,C 3.295e-05 11:78559616 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 2.793139 0.82241 0.94234 0.732398 0.995640035469759 0 0.000838255657065933 FALSE 3.66694e-05 ENSE00001103714_018 ENSE00001103714 018 11 78270546 78270715 - 39 81 50 C T 78270665 2242 51 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGAACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559618 78559619 78559619 exon 1 0.0123456790123457 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGAACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 198 324 1 1 1 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0632591984181611 0.0347727101123486 0.995874299573463 0.950984045734745 NA 0.0490159542652548 NA FALSE NA 1 1.971 rs150980817 missense_variant&splice_region_variant MODERATE NARS2 HGNC 26274 ENST00000529880 5/6 rs150980817 1 tolerated(0.08) benign(0.285) NA T:0.0002 T:0 TCC C,T 1.647e-05 11:78559619 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 missense_variant 4.385493 0.97661 0.85685 0.732398 0.997801086907148 0 0.000838255657065933 FALSE 1.22334e-05 ENSE00001103714_020 ENSE00001103714 020 11 78270546 78270715 - 39 81 50 C T 78270680 2244 36 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTAGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559633 78559634 78559634 upstr_intron -15 -0.28 GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTAGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 117 144 0.802225244853622 0.8 0.801112622426811 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA -0.134515556728216 -0.165227289887651 0.995874299573463 0.950984045734745 NA -0.149871423307934 NA FALSE NA 0.001 0.057 rs146044255 intron_variant MODIFIER NARS2 HGNC 26274 ENST00000529880 4/5 rs146044255 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCA C,T 8.237e-06 11:78559634 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 intron_variant 0.050879 0.19247 0.01692 0.088506 0.415729081721316 0.0945736 0.000838255657065933 FALSE 4.09618e-06 ENSE00001103714_022 ENSE00001103714 022 11 78270546 78270715 - 39 81 50 C T 78270700 2246 16 GGAATTGTTGAATGTACAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559653 78559654 78559654 upstr_intron -35 -0.68 GGAATTGTTGAATGTACAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 92 330 0.996651731160469 1 0.998325865580234 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0599109295786296 0.0347727101123486 0.995874299573463 0.950984045734745 NA 0.0473418198454891 NA FALSE NA 0.001 -0.044 . intron_variant MODIFIER NARS2 HGNC 26274 ENST00000529880 4/5 1 NA GCA C,T 1.647e-05 11:78559654 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 intron_variant 0.413918 0.13924 0.00882 0.088506 0.623282572812981 0.105474 0.000838255657065933 FALSE 8.32106e-06 ENSE00001103714_023 ENSE00001103714 023 11 78270546 78270715 - 39 81 50 A C 78270703 2247 13 GGAATTGTTGAAGGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT 78559499 78559669 78559656 78559657 78559657 upstr_intron -38 -0.74 GGAATTGTTGAAGGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT GGAATTGTTGAATGTGCAAATATCCTGAAAACAGTGGTTTTCTTTTTCAGGACAGTGGCTTTGTACATATTCATACTCCAATAATCACATCCAATGACTCTGAGGGAGCTGGAGAACTTTTTCAACTTGAAGTAAGTTTTGCTTCCCATCTTGAGGGGTACATTGCTGTT mutant NA NA NA NA NA 59 374 1 0.999284510987442 0.999642255493721 0.997736906575387 0.994011692571538 0.936740801581839 0.965227289887651 NA NA 0.0632591984181611 0.0340572210997907 0.995874299573463 0.950984045734745 NA 0.0486582097589759 NA FALSE NA 0 -0.043 rs139946982 intron_variant MODIFIER NARS2 HGNC 26274 ENST00000529880 4/5 rs139946982 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 CAT A,C 1.647e-05 11:78559657 NARS2 HGNC Symbol protein_coding 138913 ENSG00000137513 ENSE00003522365 intron_variant -0.064214 0.20357 0.10005 0.088506 0.754252018258832 0.106393 0.000838255657065933 FALSE 8.37598e-06 ENSE00001104088_000 ENSE00001104088 000 16 24883421 24883590 + 60 60 50 NA NA NA NA NA TCCAAATGGGTACCTTGTTGTGAGCTGGGGGCCAAGTCCTGACTGTGTTTTCTTGAGCAGGGCTTGTTTTCTGTGCTGATGTTGGCCTGGATCTTCCTACCCATCTACATTGCTGGTCAGGTGAGTCGGGGGACATTGGGATGCTGTAGAATTGAAAGATGCTTTGGGAA 24872099 24872269 NA NA NA NA NA NA TCCAAATGGGTACCTTGTTGTGAGCTGGGGGCCAAGTCCTGACTGTGTTTTCTTGAGCAGGGCTTGTTTTCTGTGCTGATGTTGGCCTGGATCTTCCTACCCATCTACATTGCTGGTCAGGTGAGTCGGGGGACATTGGGATGCTGTAGAATTGAAAGATGCTTTGGGAA TCCAAATGGGTACCTTGTTGTGAGCTGGGGGCCAAGTCCTGACTGTGTTTTCTTGAGCAGGGCTTGTTTTCTGTGCTGATGTTGGCCTGGATCTTCCTACCCATCTACATTGCTGGTCAGGTGAGTCGGGGGACATTGGGATGCTGTAGAATTGAAAGATGCTTTGGGAA natural NA NA NA NA NA 257 614 0.996402835137265 0.974048001497702 0.985225418317484 NA NA 0.996402835137265 0.974048001497702 NA NA 0 0 NA 0.985225418317484 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003553874 NA NA NA NA NA NA NA NA NA NA ENSE00001104098_000 ENSE00001104098 000 16 66547595 66547764 - 39 81 50 NA NA NA NA NA TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 NA NA NA NA NA NA TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG natural NA NA NA NA NA 394 413 0.997572580853016 0.987066109454029 0.992319345153522 NA NA 0.997572580853016 0.987066109454029 NA NA 0 0 NA 0.992319345153522 NA 0 NA FALSE NA NA NA NA NA NA TK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TK2 NA NA NA ENSG00000166548 ENSE00003593295 NA NA NA NA NA NA NA 0.00326975294791418 FALSE NA ENSE00001104098_BRK ENSE00001104098 BRK 16 66547595 66547764 - 39 81 50 A,G; T,T NA NA NA TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCTTGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGCCAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 NA NA NA NA NA NA TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCTTGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGCCAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG control 56 13 0 0 0 NA NA NA NA NA NA NA 0.997572580853016 0.987066109454029 NA NA NA NA NA 0.992319345153522 NA NA NA NA NA NA NA NA NA NA TK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TK2 NA NA NA ENSG00000166548 ENSE00003593295 NA NA NA NA NA NA NA 0.00326975294791418 FALSE NA ENSE00001104104_000 ENSE00001104104 000 16 66570814 66570983 - 53 54 63 NA NA NA NA NA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 NA NA NA NA NA NA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA natural NA NA NA NA NA 1375 481 0.998273129208227 0.984265672338688 0.991269400773457 NA NA 0.998273129208227 0.984265672338688 NA NA 0 0 NA 0.991269400773457 NA 0 NA FALSE NA NA NA NA NA NA TK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TK2 NA NA NA ENSG00000166548 ENSE00003674645 NA NA NA NA NA NA NA 0.00326975294791418 FALSE NA ENSE00001104104_001 ENSE00001104104 001 16 66570814 66570983 - 53 54 63 A T 66570827 2156 157 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCATAAGCACCTGAGA 66536910 66537080 66536923 66536924 66536924 downstr_intron 40 1.76923076923077 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCATAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 480 822 1 0.999953688915721 0.999976844457861 NA NA 0.998273129208227 0.984265672338688 NA NA 0.00172687079177292 0.0156880165770334 NA 0.991269400773457 NA 0.00870744368440318 NA FALSE NA 0 -0.529 . intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/10 1 NA AAG A,T 8.236e-06 16:66536924 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 intron_variant -0.089281 0.13197 0.04225 0.099367 0.695680999851964 0.06097 0.00326975294791418 FALSE 1.62459e-05 ENSE00001104104_002 ENSE00001104104 002 16 66570814 66570983 - 53 54 63 G A 66570828 2157 156 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCTTTAAGCACCTGAGA 66536910 66537080 66536924 66536925 66536925 downstr_intron 39 1.75 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCTTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 270 22 1 1 1 NA NA 0.998273129208227 0.984265672338688 NA NA 0.00172687079177292 0.0157343276613124 NA 0.991269400773457 NA 0.00873059922654268 NA FALSE NA 0 0.553 . intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/10 1 NA AGG G,A 8.236e-06 16:66536925 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 intron_variant 0.22504 0.14105 0.02795 0.099367 0.450460020111827 0.06097 0.00326975294791418 FALSE 2.03069e-05 ENSE00001104104_003 ENSE00001104104 003 16 66570814 66570983 - 53 54 63 A G 66570833 2158 151 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCCTCCCCTTAAGCACCTGAGA 66536910 66537080 66536929 66536930 66536930 downstr_intron 34 1.65384615384615 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCCTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 14 501 1 0.999684196291755 0.999842098145878 NA NA 0.998273129208227 0.984265672338688 NA NA 0.00172687079177292 0.0154185239530674 NA 0.991269400773457 NA 0.00857269737242017 NA FALSE NA 0.003 1.372 . intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/10 1 NA AAG A,G 1.647e-05 16:66536930 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 intron_variant 0.243863 0.16969 0.11152 0.099367 0.310790070151088 0.06097 0.00326975294791418 FALSE 2.03054e-05 ENSE00001104104_004 ENSE00001104104 004 16 66570814 66570983 - 53 54 63 C T 66570836 2159 148 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCAGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66536932 66536933 66536933 downstr_intron 31 1.59615384615385 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCAGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 231 39 1 0.976817904344527 0.988408952172264 NA NA 0.998273129208227 0.984265672338688 NA NA 0.00172687079177292 -0.00744776799416014 NA 0.991269400773457 NA -0.00286044860119361 NA FALSE NA 0 -0.864 . intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/10 1 NA CCG C,T 8.236e-06 16:66536933 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 intron_variant 0.060387 0.0791 0.00201 0.099367 0.576090125096541 0.0463496 0.00326975294791418 FALSE 8.12295e-06 ENSE00001104104_005 ENSE00001104104 005 16 66570814 66570983 - 53 54 63 G A 66570837 2160 147 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCTGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66536933 66536934 66536934 downstr_intron 30 1.57692307692308 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCTGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 100 137 0.97782073970014 0.969994527990441 0.97390763384529 NA NA 0.998273129208227 0.984265672338688 NA NA -0.020452389508087 -0.0142711443482467 NA 0.991269400773457 NA -0.0173617669281669 NA FALSE NA 0 0.039 . intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/10 1 NA CGG G,A 3.295e-05 16:66536934 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 intron_variant -0.341019 0.15533 0.05332 0.099367 0.749395572763912 0.0463496 0.00326975294791418 FALSE 4.87397e-05 ENSE00001104104_008 ENSE00001104104 008 16 66570814 66570983 - 53 54 63 C A 66570858 2163 126 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGTTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66536954 66536955 66536955 downstr_intron 9 1.17307692307692 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGTTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 255 192 0.99705832456537 1 0.998529162282685 NA NA 0.998273129208227 0.984265672338688 NA NA -0.00121480464285728 0.0157343276613124 NA 0.991269400773457 NA 0.00725976150922758 NA FALSE NA 0.001 0.064 . intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/10 rs376060179 1 NA A:0.0002 A:0 ACC C,A 8.236e-06 16:66536955 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 intron_variant 2.360215 0.26163 0.04464 0.162113 0.830964409376231 0.144465 0.00326975294791418 FALSE 4.06068e-06 ENSE00001104104_010 ENSE00001104104 010 16 66570814 66570983 - 53 54 63 T C 66570874 2165 110 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAGTCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66536970 66536971 66536971 exon -8 0.87037037037037 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAGTCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 735 119 0.999164991919287 0.983507427288288 0.991336209603788 NA NA 0.998273129208227 0.984265672338688 NA NA 0.00089186271106001 -0.000758245050399453 NA 0.991269400773457 NA 6.68088303302783e-05 NA FALSE NA 1 3.659 rs142291440 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/11 rs142291440&CM064340 1 NA C:0.0005 C:0 ATT T,C 3.295e-05 16:66536971 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 missense_variant 4.712617 0.96615 0.90708 0.706548 0.998306208938596 0 0.00326975294791418 FALSE 1.21819e-05 ENSE00001104104_014 ENSE00001104104 014 16 66570814 66570983 - 53 54 63 G A 66570884 2169 100 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCTGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66536980 66536981 66536981 exon -18 0.685185185185185 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCTGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 834 393 1 0.999597364308555 0.999798682154277 NA NA 0.998273129208227 0.984265672338688 NA NA 0.00172687079177292 0.0153316919698672 NA 0.991269400773457 NA 0.00852928138082004 NA FALSE NA 0.987 3.517 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/11 rs281865489&CM094574 1 NA CGG G,A 8.236e-06 16:66536981 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 missense_variant 4.651129 0.96979 0.90769 0.706548 0.993547326902527 0 0.00326975294791418 FALSE 1.2182e-05 ENSE00001104104_015 ENSE00001104104 015 16 66570814 66570983 - 53 54 63 G C 66570901 2170 83 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTGCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66536997 66536998 66536998 exon 20 0.37037037037037 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTGCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 69 1392 1 0.985053891933425 0.992526945966713 NA NA 0.998273129208227 0.984265672338688 NA NA 0.00172687079177292 0.000788219594737738 NA 0.991269400773457 NA 0.00125754519325533 NA FALSE NA 0.884 1.471 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:66536998 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 missense_variant 3.542338 0.83571 0.77015 0.706298 0.986411985146674 0 0.00326975294791418 FALSE 4.06062e-06 ENSE00001104104_016 ENSE00001104104 016 16 66570814 66570983 - 53 54 63 G T 66570901 2171 83 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTACAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66536997 66536998 66536998 exon 20 0.37037037037037 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTACAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 256 68 0.894014579724494 1 0.947007289862247 NA NA 0.998273129208227 0.984265672338688 NA NA -0.104258549483733 0.0157343276613124 NA 0.991269400773457 NA -0.0442621109112105 NA FALSE NA 0.884 1.471 NA NA NA TK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TK2 NA NA NA ENSG00000166548 ENSE00003674645 missense_variant 2.508099 0.82904 0.74716 0.706298 0.952584794960512 0 0.00326975294791418 FALSE 4.06062e-06 ENSE00001104104_017 ENSE00001104104 017 16 66570814 66570983 - 53 54 63 C T 66570912 2172 72 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACAGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66537008 66537009 66537009 exon 9 0.166666666666667 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACAGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 211 28 0.986809602112521 1 0.99340480105626 NA NA 0.998273129208227 0.984265672338688 NA NA -0.0114635270957062 0.0157343276613124 NA 0.991269400773457 NA 0.00213540028280312 NA FALSE NA 0.027 -0.823 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/11 1 NA CCG C,T 8.236e-06 16:66537009 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 synonymous_variant 1.635481 0.19766 0.03858 0.706548 0.434702484250835 0 0.00326975294791418 FALSE 8.12117e-06 ENSE00001104104_018 ENSE00001104104 018 16 66570814 66570983 - 53 54 63 G A 66570913 2173 71 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAATGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66537009 66537010 66537010 exon 8 0.148148148148148 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAATGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 850 15 0.993812632666313 1 0.996906316333156 NA NA 0.998273129208227 0.984265672338688 NA NA -0.00446049654191416 0.0157343276613124 NA 0.991269400773457 NA 0.00563691555969914 NA FALSE NA 0.193 1.099 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 5/11 1 NA CGT G,A 8.236e-06 16:66537010 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 missense_variant 0.656188 0.19064 0.27724 0.706548 0.894907527418294 0 0.00326975294791418 FALSE 8.12123e-06 ENSE00001104104_021 ENSE00001104104 021 16 66570814 66570983 - 53 54 63 T G 66570946 2176 38 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTCGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 66537042 66537043 66537043 upstr_intron -26 -0.396825396825397 TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTCGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA mutant NA NA NA NA NA 1125 199 0.999963413579202 1 0.999981706789601 NA NA 0.998273129208227 0.984265672338688 NA NA 0.00169028437097463 0.0157343276613124 NA 0.991269400773457 NA 0.00871230601614353 NA FALSE NA 0 -0.076 . intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 4/10 rs545930661 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 CTA T,G 1.647e-05 16:66537043 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003674645 intron_variant 0.110534 0.14713 0.00834 0.062308 0.638466172694784 0.0455939 0.00326975294791418 FALSE 1.21823e-05 ENSE00001104104_BRK ENSE00001104104 BRK 16 66570814 66570983 - 53 54 63 A,G; T,T NA NA NA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCTTGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGCCGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA 66536910 66537080 NA NA NA NA NA NA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCTTGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGCCGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA TTACACACTTTTACAGGGTTCAGCACAGAGAAACAGTAGCTCTGATGTTTTCTTTCCTTCCAGGTGTTAACGGAGCCTGTGTCCAAGTGGAGAAATGTCCGTGGCCACAATCCTCTGGTGAGTGGGTTGTTGGTTGCATGAACCCCCGGCTTCCCCTTAAGCACCTGAGA control 82 121 0 0 0 NA NA NA NA NA NA NA 0.998273129208227 0.984265672338688 NA NA NA NA NA 0.991269400773457 NA NA NA NA NA NA NA NA NA NA TK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TK2 NA NA NA ENSG00000166548 ENSE00003674645 NA NA NA NA NA NA NA 0.00326975294791418 FALSE NA ENSE00001104861_000 ENSE00001104861 000 18 61022405 61022574 - 32 96 42 NA NA NA NA NA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 NA NA NA NA NA NA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA natural NA NA NA NA NA 1042 1076 0.837525716047528 0.900164351401737 0.868845033724633 NA NA 0.837525716047528 0.900164351401737 NA NA 0 0 NA 0.868845033724633 NA 0 NA FALSE NA NA NA NA NA NA KDSR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDSR NA NA NA ENSG00000119537 ENSE00003501381 NA NA NA NA NA NA NA 0.472000395094808 FALSE NA ENSE00001104861_001 ENSE00001104861 001 18 61022405 61022574 - 32 96 42 T G 61022416 781 159 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCCCTGCAGTAGCA 63355171 63355341 63355182 63355183 63355183 downstr_intron 21 1.67741935483871 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCCCTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 122 47 0.95 0.996620025288707 0.973310012644353 NA NA 0.837525716047528 0.900164351401737 NA NA 0.112474283952472 0.0964556738869699 NA 0.868845033724633 NA 0.104464978919721 NA FALSE NA 0 -0.086 . intron_variant MODIFIER KDSR HGNC 4021 ENST00000406396 5/9 1 NA GTG T,G 8.236e-06 18:63355183 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 intron_variant 0.322265 0.1752 0.12591 0.295142 0.371600862452999 0.132124 0.472000395094808 FALSE NA ENSE00001104861_004 ENSE00001104861 004 18 61022405 61022574 - 32 96 42 G A 61022443 784 132 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACTTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355209 63355210 63355210 exon -7 0.9375 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACTTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 100 300 1 0.99715942088499 0.998579710442495 NA NA 0.837525716047528 0.900164351401737 NA NA 0.162474283952472 0.0969950694832532 NA 0.868845033724633 NA 0.129734676717863 NA FALSE NA 0.49 1.193 . synonymous_variant LOW KDSR HGNC 4021 ENST00000406396 5/10 1 NA AGG G,A 8.236e-06 18:63355210 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 synonymous_variant 1.535151 0.76709 0.08089 0.706548 0.576616293061685 0 0.472000395094808 FALSE 4.06557e-06 ENSE00001104861_007 ENSE00001104861 007 18 61022405 61022574 - 32 96 42 C T 61022447 787 128 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAATACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355213 63355214 63355214 exon -11 0.895833333333333 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAATACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant 15 14 0.85 0.85 0.85 262 114 1 0.892210667575565 0.946105333787782 NA NA 0.837525716047528 0.900164351401737 NA NA 0.162474283952472 -0.00795368382617245 NA 0.868845033724633 NA 0.0772603000631498 NA FALSE NA 0.999 3.854 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 5/10 rs571007173&COSM1750565 1 tolerated(0.72) benign(0.008) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACT C,T 2.471e-05 18:63355214 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 missense_variant 2.782321 0.97012 0.76735 0.706548 0.951906086655515 0 0.472000395094808 FALSE 2.03227e-05 ENSE00001104861_008 ENSE00001104861 008 18 61022405 61022574 - 32 96 42 A T 61022458 788 117 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGAACTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355224 63355225 63355225 exon -22 0.78125 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGAACTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 246 441 1 1 1 NA NA 0.837525716047528 0.900164351401737 NA NA 0.162474283952472 0.0998356485982628 NA 0.868845033724633 NA 0.131154966275367 NA FALSE NA 0.008 -0.782 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 5/10 1 tolerated(0.25) benign(0.026) NA GAT A,T 8.236e-06 18:63355225 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 missense_variant 0.992239 0.35403 0.10442 0.706548 0.917038289546885 0 0.472000395094808 FALSE 1.21893e-05 ENSE00001104861_009 ENSE00001104861 009 18 61022405 61022574 - 32 96 42 C T 61022476 789 99 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTATCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355242 63355243 63355243 exon -40 0.59375 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTATCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 717 80 0.911555229352012 1 0.955777614676006 NA NA 0.837525716047528 0.900164351401737 NA NA 0.0740295133044846 0.0998356485982628 NA 0.868845033724633 NA 0.0869325809513737 NA FALSE NA 0.001 0.093 . synonymous_variant LOW KDSR HGNC 4021 ENST00000406396 5/10 rs540005100 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACA C,T 1.647e-05 18:63355243 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 synonymous_variant 1.33927 0.25428 0.1116 0.706548 0.606823796792546 0 0.472000395094808 FALSE 1.21894e-05 ENSE00001104861_011 ENSE00001104861 011 18 61022405 61022574 - 32 96 42 T C 61022484 791 91 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAGTGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355250 63355251 63355251 exon -48 0.510416666666667 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAGTGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 235 245 1 1 1 NA NA 0.837525716047528 0.900164351401737 NA NA 0.162474283952472 0.0998356485982628 NA 0.868845033724633 NA 0.131154966275367 NA FALSE NA 0.314 2.771 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 5/10 1 tolerated(0.32) benign(0.007) NA ATT T,C 8.236e-06 18:63355251 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 missense_variant -1.478228 0.32015 0.58314 0.706548 0.352342072378419 0 0.472000395094808 FALSE 4.06332e-06 ENSE00001104861_013 ENSE00001104861 013 18 61022405 61022574 - 32 96 42 G T 61022502 793 73 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGATGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355268 63355269 63355269 exon 31 0.322916666666667 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGATGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 307 331 0.869469526249407 0.99952189843693 0.934495712343169 NA NA 0.837525716047528 0.900164351401737 NA NA 0.0319438102018794 0.0993575470351932 NA 0.868845033724633 NA 0.0656506786185363 NA FALSE NA 1 5.796 NA NA NA KDSR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:63355269 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 missense_variant 6.11252 0.98986 0.98835 0.706548 0.997221863478622 0 0.472000395094808 FALSE 8.12731e-06 ENSE00001104861_015 ENSE00001104861 015 18 61022405 61022574 - 32 96 42 A G 61022504 795 71 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACACGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355270 63355271 63355271 exon 29 0.302083333333333 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACACGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 604 43 1 1 1 NA NA 0.837525716047528 0.900164351401737 NA NA 0.162474283952472 0.0998356485982628 NA 0.868845033724633 NA 0.131154966275367 NA FALSE NA 1 9.305 . missense_variant MODERATE KDSR HGNC 4021 ENST00000406396 5/10 1 deleterious(0) possibly_damaging(0.574) NA CAT A,G 8.236e-06 18:63355271 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 missense_variant 4.666293 0.99391 0.99527 0.706548 0.991035843898504 0 0.472000395094808 FALSE 4.06342e-06 ENSE00001104861_017 ENSE00001104861 017 18 61022405 61022574 - 32 96 42 C T 61022532 797 43 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGACACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355298 63355299 63355299 exon 1 0.0104166666666667 TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGACACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 121 349 0.95 0.956226661080035 0.953113330540018 NA NA 0.837525716047528 0.900164351401737 NA NA 0.112474283952472 0.0560623096782981 NA 0.868845033724633 NA 0.084268296815385 NA FALSE NA 1 7.789 . missense_variant&splice_region_variant MODERATE KDSR HGNC 4021 ENST00000406396 5/10 1 tolerated(0.11) possibly_damaging(0.491) NA GCC C,T 1.647e-05 18:63355299 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 missense_variant 5.718111 0.99545 0.99265 0.706548 0.997301123868157 0 0.472000395094808 FALSE 1.22149e-05 ENSE00001104861_019 ENSE00001104861 019 18 61022405 61022574 - 32 96 42 T C 61022559 799 16 TCTTCTCTGTTTCTTGATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 63355325 63355326 63355326 upstr_intron -27 -0.619047619047619 TCTTCTCTGTTTCTTGATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA mutant NA NA NA NA NA 851 11 0.993175609148779 0.985343793273816 0.989259701211298 NA NA 0.837525716047528 0.900164351401737 NA NA 0.155649893101251 0.0851794418720792 NA 0.868845033724633 NA 0.120414667486665 NA FALSE NA 0 -0.455 . intron_variant MODIFIER KDSR HGNC 4021 ENST00000406396 4/9 1 NA TTA T,C 8.236e-06 18:63355326 KDSR HGNC Symbol protein_coding 39784 ENSG00000119537 ENSE00003501381 non_coding_transcript_exon_variant 0.357936 0.20967 0.11097 0.099367 0.800062753975186 0.0526402 0.472000395094808 FALSE 4.13117e-06 ENSE00001104861_BRK ENSE00001104861 BRK 18 61022405 61022574 - 32 96 42 A,G; T,T NA NA NA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTTTGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAACCAAGTAAAAATGTTTGCTCACTGCAGTAGCA 63355171 63355341 NA NA NA NA NA NA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTTTGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAACCAAGTAAAAATGTTTGCTCACTGCAGTAGCA TCTTCTCTGTTTCTTAATGCCTGCTCTGCTACATTTTTCTAGGCACAGGAGAAACTGGGTCCAGTGGACATGCTGGTAAATTGTGCAGGAATGGCAGTGTCAGGAAAATTTGAAGATCTTGAAGTTAGTACCTTTGAAGTAAGTAAAAATGTTTGCTCACTGCAGTAGCA control NA NA NA NA NA 25 218 0 0 0 NA NA 0.837525716047528 0.900164351401737 NA NA -0.837525716047528 -0.900164351401737 NA 0.868845033724633 NA -0.868845033724633 NA TRUE NA NA NA NA NA NA KDSR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDSR NA NA NA ENSG00000119537 ENSE00003501381 NA NA NA NA NA NA NA 0.472000395094808 FALSE NA ENSE00001105500_000 ENSE00001105500 000 16 10846411 10846580 + 56 69 45 NA NA NA NA NA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 NA NA NA NA NA NA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA natural NA NA NA NA NA 861 911 0.991500491951238 0.963449006519925 0.977474749235582 NA NA 0.991500491951238 0.963449006519925 NA NA 0 0 NA 0.977474749235582 NA 0 NA FALSE NA NA NA NA NA NA NUBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUBP1 NA NA NA ENSG00000103274 ENSE00003554058 NA NA NA NA NA NA NA 6.66279855269194e-08 FALSE NA ENSE00001105500_001 ENSE00001105500 001 16 10846411 10846580 + 56 69 45 G A 10846423 819 13 TGTCTGGAGTGTATGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752565 10752566 10752566 upstr_intron -44 -0.767857142857143 TGTCTGGAGTGTATGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 175 34 1 0.996569762978585 0.998284881489293 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00849950804876187 0.0331207564586601 NA 0.977474749235582 NA 0.020810132253711 NA FALSE NA 0 -2.391 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 3/9 1 NA TGT G,A 1.647e-05 16:10752566 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.362305 0.15568 0.02948 0 0.761600724714365 0.0477514 6.66279855269194e-08 FALSE 1.21974e-05 ENSE00001105500_002 ENSE00001105500 002 16 10846411 10846580 + 56 69 45 G A 10846425 820 15 TGTCTGGAGTGTGTACATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752567 10752568 10752568 upstr_intron -42 -0.732142857142857 TGTCTGGAGTGTGTACATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 862 197 0.973039427294244 0.950050858732904 0.961545143013574 NA NA 0.991500491951238 0.963449006519925 NA NA -0.0184610646569938 -0.0133981477870216 NA 0.977474749235582 NA -0.0159296062220077 NA FALSE NA 0 -0.319 rs112870436 intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 3/9 rs112870436 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 TGC G,A 0.0001071 16:10752568 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.38466 0.14458 0.02152 0 0.760850538275683 0.0477514 6.66279855269194e-08 FALSE 6.50496e-05 ENSE00001105500_003 ENSE00001105500 003 16 10846411 10846580 + 56 69 45 C T 10846430 821 20 TGTCTGGAGTGTGTGCATTTAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752572 10752573 10752573 upstr_intron -37 -0.642857142857143 TGTCTGGAGTGTGTGCATTTAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 309 165 0.994965603877646 0.989175083700928 0.992070343789287 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00346511192640764 0.0257260771810026 NA 0.977474749235582 NA 0.0145955945537051 NA FALSE NA 0 0.111 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 3/9 1 NA TCA C,T 8.236e-06 16:10752573 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.277261 0.18138 0.0629 0 0.693204309326877 0.0477514 6.66279855269194e-08 FALSE 1.21936e-05 ENSE00001105500_004 ENSE00001105500 004 16 10846411 10846580 + 56 69 45 T C 10846436 822 26 TGTCTGGAGTGTGTGCATTCAGTTACATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752578 10752579 10752579 upstr_intron -31 -0.535714285714286 TGTCTGGAGTGTGTGCATTCAGTTACATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 394 158 0.966274134073996 0.949013924442757 0.957644029258376 NA NA 0.991500491951238 0.963449006519925 NA NA -0.0252263578772426 -0.0144350820771684 NA 0.977474749235582 NA -0.0198307199772055 NA FALSE NA 0 -3.407 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 3/9 1 NA ATA T,C 1.647e-05 16:10752579 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant -0.338174 0.09582 0.01072 0 0.192116541299931 0.0477514 6.66279855269194e-08 FALSE 8.124e-06 ENSE00001105500_005 ENSE00001105500 005 16 10846411 10846580 + 56 69 45 A T 10846437 823 27 TGTCTGGAGTGTGTGCATTCAGTTATTTAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752579 10752580 10752580 upstr_intron -30 -0.517857142857143 TGTCTGGAGTGTGTGCATTCAGTTATTTAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 375 81 0.990464692282089 0.98566059129831 0.988062641790199 NA NA 0.991500491951238 0.963449006519925 NA NA -0.00103579966914946 0.0222115847783846 NA 0.977474749235582 NA 0.0105878925546176 NA FALSE NA 0 -3.125 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 3/9 1 NA TAT A,T 8.236e-06 16:10752580 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant -0.284277 0.18822 0.01466 0 0.653710023509243 0.0477514 6.66279855269194e-08 FALSE 4.06204e-06 ENSE00001105500_007 ENSE00001105500 007 16 10846411 10846580 + 56 69 45 G A 10846443 825 33 TGTCTGGAGTGTGTGCATTCAGTTATATAACCACTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752585 10752586 10752586 upstr_intron -24 -0.410714285714286 TGTCTGGAGTGTGTGCATTCAGTTATATAACCACTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 153 267 0.951197177102726 0.997686333622433 0.974441755362579 NA NA 0.991500491951238 0.963449006519925 NA NA -0.040303314848512 0.0342373271025075 NA 0.977474749235582 NA -0.00303299387300227 NA FALSE NA 0 -1.265 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:10752586 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.439613 0.15294 0.00721 0 0.792398171901963 0.0874964 6.66279855269194e-08 FALSE 1.62473e-05 ENSE00001105500_008 ENSE00001105500 008 16 10846411 10846580 + 56 69 45 G T 10846443 826 33 TGTCTGGAGTGTGTGCATTCAGTTATATAACCTCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752585 10752586 10752586 upstr_intron -24 -0.410714285714286 TGTCTGGAGTGTGTGCATTCAGTTATATAACCTCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 23 332 1 1 1 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00849950804876187 0.0365509934800746 NA 0.977474749235582 NA 0.0225252507644182 NA FALSE NA 0 -1.265 NA NA NA NUBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUBP1 NA NA NA ENSG00000103274 ENSE00003554058 intron_variant 0.255254 0.14724 0.01167 0 0.788024970522877 0.0874964 6.66279855269194e-08 FALSE 4.06184e-06 ENSE00001105500_011 ENSE00001105500 011 16 10846411 10846580 + 56 69 45 C T 10846461 829 51 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTTCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752603 10752604 10752604 upstr_intron -6 -0.0892857142857143 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTTCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 202 13 1 0.987635480263743 0.993817740131872 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00849950804876187 0.0241864737438179 NA 0.977474749235582 NA 0.0163429908962899 NA FALSE NA 0 0.148 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NUBP1 HGNC 8041 ENST00000571790 3/9 rs367946901 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 16:10752604 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 splice_region_variant 0.449259 0.20593 0.03944 0 0.404527403337146 0.216258 6.66279855269194e-08 FALSE 1.62443e-05 ENSE00001105500_014 ENSE00001105500 014 16 10846411 10846580 + 56 69 45 A G 10846482 832 72 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACGTCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752624 10752625 10752625 exon 16 0.231884057971014 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACGTCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 128 178 0.974688659764076 1 0.987344329882038 NA NA 0.991500491951238 0.963449006519925 NA NA -0.0168118321871625 0.0365509934800746 NA 0.977474749235582 NA 0.00986958064645604 NA FALSE NA 1 2.942 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 1 NA CAT A,G 8.236e-06 16:10752625 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 missense_variant -0.311828 0.97475 0.8205 0.706548 0.399348390608508 0 6.66279855269194e-08 FALSE 8.12189e-06 ENSE00001105500_015 ENSE00001105500 015 16 10846411 10846580 + 56 69 45 C T 10846484 833 74 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATTGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752626 10752627 10752627 exon 18 0.260869565217391 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATTGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 271 1430 0 0.00863322261328763 0.00431661130664382 NA NA 0.991500491951238 0.963449006519925 NA NA -0.991500491951238 -0.954815783906638 NA 0.977474749235582 NA -0.973158137928938 NA TRUE NA 0 -2.802 NA NA NA NUBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:10752627 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 synonymous_variant 1.419396 0.16022 0.01003 0.706548 0.640462300659689 0 6.66279855269194e-08 FALSE 1.2183e-05 ENSE00001105500_020 ENSE00001105500 020 16 10846411 10846580 + 56 69 45 C T 10846497 838 87 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGTCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752639 10752640 10752640 exon 31 0.449275362318841 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGTCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 3681 119 0.961733011347727 0.886843474948822 0.924288243148275 NA NA 0.991500491951238 0.963449006519925 NA NA -0.0297674806035106 -0.0766055315711032 NA 0.977474749235582 NA -0.0531865060873069 NA FALSE NA 1 6.572 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 1 NA GCC C,T 8.236e-06 16:10752640 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 missense_variant 5.798618 0.99219 0.97836 0.706548 0.999100202840631 0 6.66279855269194e-08 FALSE NA ENSE00001105500_022 ENSE00001105500 022 16 10846411 10846580 + 56 69 45 C A 10846508 840 98 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCAAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752650 10752651 10752651 exon -28 0.608695652173913 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCAAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 666 1086 0.985979474574419 0.993427351422716 0.989703412998568 NA NA 0.991500491951238 0.963449006519925 NA NA -0.00552101737681898 0.0299783449027909 NA 0.977474749235582 NA 0.012228663762986 NA FALSE NA 0.998 0.499 rs150417524 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 rs150417524 1 NA A:0 A:0.0002 CCA C,A 4.118e-05 16:10752651 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 synonymous_variant 2.208283 0.97484 0.79976 0.706548 0.690638361407869 0 6.66279855269194e-08 FALSE 4.8729e-05 ENSE00001105500_023 ENSE00001105500 023 16 10846411 10846580 + 56 69 45 A G 10846509 841 99 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCGAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752651 10752652 10752652 exon -27 0.623188405797101 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCGAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 62 196 1 1 1 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00849950804876187 0.0365509934800746 NA 0.977474749235582 NA 0.0225252507644182 NA FALSE NA 1 6.023 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 rs201706853 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAA A,G 2.471e-05 16:10752652 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 missense_variant 4.287965 0.98645 0.97335 0.706548 0.9980136624893 0 6.66279855269194e-08 FALSE 8.1215e-06 ENSE00001105500_024 ENSE00001105500 024 16 10846411 10846580 + 56 69 45 G A 10846511 842 101 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAAATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752653 10752654 10752654 exon -25 0.652173913043478 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAAATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 539 172 0.819846650673362 0.812673694013837 0.8162601723436 NA NA 0.991500491951238 0.963449006519925 NA NA -0.171653841277876 -0.150775312506088 NA 0.977474749235582 NA -0.161214576891982 NA FALSE NA 1 1.605 rs2233535 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 rs2233535 1 A:0.0012 A:0 A:0 NA A:0 A:0.006 A:0 A:0.0009 A:0.005 AGA G,A 0.003517 16:10752654 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 synonymous_variant 1.679208 0.95935 0.73278 0.706548 0.602838372343678 0 6.66279855269194e-08 FALSE 0.00316343 ENSE00001105500_025 ENSE00001105500 025 16 10846411 10846580 + 56 69 45 G A 10846518 843 108 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGAGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752660 10752661 10752661 exon -18 0.753623188405797 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGAGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 51 431 1 1 1 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00849950804876187 0.0365509934800746 NA 0.977474749235582 NA 0.0225252507644182 NA FALSE NA 1 8.289 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 1 NA GGG G,A 8.236e-06 16:10752661 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 missense_variant 7.045636 0.99395 0.98867 0.706548 0.999249287949121 0 6.66279855269194e-08 FALSE 4.06078e-06 ENSE00001105500_026 ENSE00001105500 026 16 10846411 10846580 + 56 69 45 T C 10846521 844 111 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGACTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752663 10752664 10752664 exon -15 0.797101449275362 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGACTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 24 472 0.8 0.999919330681512 0.899959665340756 NA NA 0.991500491951238 0.963449006519925 NA NA -0.191500491951238 0.0364703241615866 NA 0.977474749235582 NA -0.0775150838948258 NA FALSE NA 0.005 -0.043 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 1 NA ATT T,C 4.942e-05 16:10752664 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 synonymous_variant 0.294063 0.2921 0.02905 0.706548 0.542092582282208 0 6.66279855269194e-08 FALSE 4.8729e-05 ENSE00001105500_027 ENSE00001105500 027 16 10846411 10846580 + 56 69 45 G A 10846528 845 118 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGAAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752670 10752671 10752671 exon -8 0.898550724637681 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGAAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 164 20 1 1 1 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00849950804876187 0.0365509934800746 NA 0.977474749235582 NA 0.0225252507644182 NA FALSE NA 1 8.289 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 1 NA GGA G,A 8.236e-06 16:10752671 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 missense_variant 6.626054 0.99395 0.98867 0.706548 0.997951052699387 0 6.66279855269194e-08 FALSE NA ENSE00001105500_029 ENSE00001105500 029 16 10846411 10846580 + 56 69 45 G A 10846532 847 122 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAACAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752674 10752675 10752675 exon -4 0.956521739130435 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAACAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 298 85 1 0.982875136609268 0.991437568304634 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00849950804876187 0.0194261300893422 NA 0.977474749235582 NA 0.0139628190690521 NA FALSE NA 0.534 -0.004 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/10 1 NA AGC G,A 8.236e-06 16:10752675 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 synonymous_variant 0.908872 0.9107 0.16523 0.706548 0.411134639155677 0 6.66279855269194e-08 FALSE 4.06088e-06 ENSE00001105500_034 ENSE00001105500 034 16 10846411 10846580 + 56 69 45 C G 10846544 852 134 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCGGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752686 10752687 10752687 downstr_intron 9 1.20454545454545 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCGGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 100 19 1 1 1 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00849950804876187 0.0365509934800746 NA 0.977474749235582 NA 0.0225252507644182 NA FALSE NA 0 -2.44 NA NA NA NUBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:10752687 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.377836 0.0668 0.00148 0.062308 0.627246273628336 0.0856236 6.66279855269194e-08 FALSE 4.06114e-06 ENSE00001105500_035 ENSE00001105500 035 16 10846411 10846580 + 56 69 45 G A 10846545 853 135 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCAGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752687 10752688 10752688 downstr_intron 10 1.22727272727273 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCAGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 68 520 0.975961239226967 0.999926780502289 0.987944009864628 NA NA 0.991500491951238 0.963449006519925 NA NA -0.0155392527242716 0.0364777739823633 NA 0.977474749235582 NA 0.0104692606290459 NA FALSE NA 0 -1.421 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/9 rs201497927 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0002 CGG G,A 7.413e-05 16:10752688 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.35619 0.09724 0.00374 0.062308 0.729459294992144 0.0471196 6.66279855269194e-08 FALSE 8.93524e-05 ENSE00001105500_036 ENSE00001105500 036 16 10846411 10846580 + 56 69 45 A G 10846551 854 141 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACGGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 10752693 10752694 10752694 downstr_intron 16 1.36363636363636 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACGGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 343 156 0.8 0.8 0.8 NA NA 0.991500491951238 0.963449006519925 NA NA -0.191500491951238 -0.163449006519925 NA 0.977474749235582 NA -0.177474749235582 NA FALSE NA 0 -0.311 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/9 1 NA CAG A,G 8.236e-06 16:10752694 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.057231 0.1331 0.02582 0.062308 0.442168852908475 0.0471196 6.66279855269194e-08 FALSE 4.06134e-06 ENSE00001105500_037 ENSE00001105500 037 16 10846411 10846580 + 56 69 45 G A 10846560 855 150 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGAAAATTATTCTCTTAAGGCAA 10752553 10752723 10752702 10752703 10752703 downstr_intron 25 1.56818181818182 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGAAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 487 527 0.989304894871445 0.996751159449104 0.993028027160274 NA NA 0.991500491951238 0.963449006519925 NA NA -0.00219559707979344 0.0333021529291782 NA 0.977474749235582 NA 0.0155532779246924 NA FALSE NA 0 -0.593 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/9 1 NA GGA G,A 8.236e-06 16:10752703 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.299197 0.14855 0.03708 0.062308 0.81181667846921 0.0471196 6.66279855269194e-08 FALSE 8.12414e-06 ENSE00001105500_039 ENSE00001105500 039 16 10846411 10846580 + 56 69 45 T C 10846564 857 154 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAACTATTCTCTTAAGGCAA 10752553 10752723 10752706 10752707 10752707 downstr_intron 29 1.65909090909091 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAACTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 664 337 0.995651666670811 0.997008753290811 0.996330209980811 NA NA 0.991500491951238 0.963449006519925 NA NA 0.00415117471957294 0.0335597467708857 NA 0.977474749235582 NA 0.0188554607452293 NA FALSE NA 0 -0.1 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/9 1 NA ATT T,C 3.295e-05 16:10752707 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.148267 0.11976 0.00542 0.062308 0.542572868936736 0.0471196 6.66279855269194e-08 FALSE 1.62499e-05 ENSE00001105500_040 ENSE00001105500 040 16 10846411 10846580 + 56 69 45 T A 10846567 858 157 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTAATCTCTTAAGGCAA 10752553 10752723 10752709 10752710 10752710 downstr_intron 32 1.72727272727273 TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTAATCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA mutant NA NA NA NA NA 313 596 0.97422959663447 0.984527360823925 0.979378478729198 NA NA 0.991500491951238 0.963449006519925 NA NA -0.0172708953167678 0.0210783543040001 NA 0.977474749235582 NA 0.00190372949361611 NA FALSE NA 0 0.209 . intron_variant&non_coding_transcript_variant MODIFIER NUBP1 HGNC 8041 ENST00000571790 4/9 rs372830762 1 NA ATT T,A 6.589e-05 16:10752710 NUBP1 HGNC Symbol protein_coding 25565 ENSG00000103274 ENSE00003554058 intron_variant 0.201706 0.1645 0.09317 0.062308 0.474064207684354 0.0471196 6.66279855269194e-08 FALSE 4.8752e-05 ENSE00001105500_BRK ENSE00001105500 BRK 16 10846411 10846580 + 56 69 45 A,G; T,T NA NA NA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCTTATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGCCAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA 10752553 10752723 NA NA NA NA NA NA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCTTATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGCCAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA TGTCTGGAGTGTGTGCATTCAGTTATATAACCGCTTTGGTCTCTTCTTGTCCCCAGATTGCTCTTCTAGACATCGATATATGTGGGCCATCGATTCCCAAGATAATGGGATTGGAAGGAGAGCAGGTAATAGCCGGTTACAGAACTCAGGAAATTATTCTCTTAAGGCAA control NA NA NA NA NA 205 543 0.0554744715299149 0.000673727049741459 0.0280740992898282 NA NA 0.991500491951238 0.963449006519925 NA NA -0.936026020421323 -0.962775279470184 NA 0.977474749235582 NA -0.949400649945754 NA TRUE NA NA NA NA NA NA NUBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUBP1 NA NA NA ENSG00000103274 ENSE00003554058 NA NA NA NA NA NA NA 6.66279855269194e-08 FALSE NA ENSE00001105667_000 ENSE00001105667 000 11 16824729 16824898 - 45 69 56 NA NA NA NA NA GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 NA NA NA NA NA NA TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC natural 19 19 0.999551047168955 0.994843151886578 0.997197099527767 1415 2068 0.99681627881068 0.8565308228854 0.92667355084804 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 0 0 0 0 0.997197099527767 0.92667355084804 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHA7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHA7 NA NA NA ENSG00000166689 ENSE00003755260 NA NA NA NA NA NA NA 0.000173040691290598 FALSE NA ENSE00001105667_001 ENSE00001105667 001 11 16824729 16824898 - 45 69 56 T C 16824742 531 157 GTCAGGAGGCAGCCGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803194 16803195 16803195 downstr_intron 32 1.72727272727273 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCGGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 577 1641 0.994591948901932 0.996160348823186 0.995376148862559 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA -0.00222432990874843 0.139629525937787 0.997197099527767 0.92667355084804 NA 0.0687025980145192 NA FALSE NA 0 -3.592 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/4 1 NA CTG T,C 8.236e-06 11:16803195 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 intron_variant 0.096209 0.07223 0.00086 0.080785 0.426771961234449 0.156508 0.000173040691290598 FALSE 1.62577e-05 ENSE00001105667_002 ENSE00001105667 002 11 16824729 16824898 - 45 69 56 G C 16824745 532 154 GTCAGGAGGCAGCTGACGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803197 16803198 16803198 downstr_intron 29 1.65909090909091 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCGTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 152 54 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 0.863 0.967 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/4 1 NA AGG G,C 8.236e-06 11:16803198 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 intron_variant 0.624564 0.97661 0.63231 0.080785 0.630128814130521 0.664304 0.000173040691290598 FALSE 4.06421e-06 ENSE00001105667_003 ENSE00001105667 003 11 16824729 16824898 - 45 69 56 G A 16824747 533 152 GTCAGGAGGCAGCTGAGGAGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803199 16803200 16803200 downstr_intron 27 1.61363636363636 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACTCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 169 148 1 0.998929895342219 0.99946494767111 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.14239907245682 0.997197099527767 0.92667355084804 NA 0.0727913968230698 NA FALSE NA 0.828 0.85 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/4 1 NA GGG G,A 2.471e-05 11:16803200 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 intron_variant 0.618262 0.28018 0.06437 0.080785 0.876698972773477 0.140237 0.000173040691290598 FALSE 2.8449e-05 ENSE00001105667_004 ENSE00001105667 004 11 16824729 16824898 - 45 69 56 C T 16824753 534 146 GTCAGGAGGCAGCTGAGGGGTCAGTGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803205 16803206 16803206 downstr_intron 21 1.47727272727273 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACACTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 350 827 1 0.998607401635828 0.999303700817914 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.142076578750428 0.997197099527767 0.92667355084804 NA 0.072630149969874 NA FALSE NA 0.004 -0.108 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:16803206 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 intron_variant 0.686571 0.28704 0.10428 0.080785 0.707946362777415 0.738621 0.000173040691290598 FALSE 8.12803e-05 ENSE00001105667_005 ENSE00001105667 005 11 16824729 16824898 - 45 69 56 C A 16824753 535 146 GTCAGGAGGCAGCTGAGGGGTCAGAGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803205 16803206 16803206 downstr_intron 21 1.47727272727273 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACTCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 284 383 1 0.990805059961501 0.995402529980751 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.134274237076102 0.997197099527767 0.92667355084804 NA 0.0687289791327108 NA FALSE NA 0.004 -0.108 NA NA NA PLEKHA7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHA7 NA NA NA ENSG00000166689 ENSE00003755260 intron_variant 0.771812 0.33838 0.10533 0.080785 0.717212876747147 0.738621 0.000173040691290598 FALSE 8.94084e-05 ENSE00001105667_006 ENSE00001105667 006 11 16824729 16824898 - 45 69 56 G A 16824754 536 145 GTCAGGAGGCAGCTGAGGGGTCAGCATGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803206 16803207 16803207 downstr_intron 20 1.45454545454545 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACATGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 281 202 1 0.999216259554951 0.999608129777475 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.142685436669551 0.997197099527767 0.92667355084804 NA 0.0729345789294354 NA FALSE NA 0.001 0.049 rs139399836 intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/4 rs139399836 1 A:0.0004 A:0.0008 A:0.0014 NA A:0 A:0 A:0 CGT G,A 8.236e-06 11:16803207 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 intron_variant -0.177423 0.22832 0.02426 0.080785 0.697453347083046 0.140237 0.000173040691290598 FALSE 4.06312e-06 ENSE00001105667_008 ENSE00001105667 008 11 16824729 16824898 - 45 69 56 T C 16824763 538 136 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCCGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803215 16803216 16803216 downstr_intron 11 1.25 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCGGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 136 954 0.997862350552211 1 0.998931175276105 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00104607174153049 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0722576244280654 NA FALSE NA 0.007 0.039 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/4 1 NA CTG T,C 8.236e-05 11:16803216 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 intron_variant 0.330063 0.24033 0.04155 0.080785 0.549420843236048 0.152985 0.000173040691290598 FALSE 7.31202e-05 ENSE00001105667_010 ENSE00001105667 010 11 16824729 16824898 - 45 69 56 G A 16824774 540 125 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACATCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803226 16803227 16803227 exon -1 1 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGATGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 31 580 0.987405315674056 0.980131142089974 0.983768228882015 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA -0.00941096313662471 0.123600319204575 0.997197099527767 0.92667355084804 NA 0.0570946780339749 NA FALSE NA 0.807 0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:16803227 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 splice_region_variant 0.80527 0.96242 0.3828 0.661447 0.740181700283884 0 0.000173040691290598 FALSE 3.65595e-05 ENSE00001105667_014 ENSE00001105667 014 11 16824729 16824898 - 45 69 56 G T 16824778 544 121 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCATTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803230 16803231 16803231 exon -5 0.942028985507246 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACAATGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 299 90 0.996392754413585 1 0.998196377206793 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA -0.000423524397094921 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0715228263587527 NA FALSE NA 1 1.902 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:16803231 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 missense_variant 2.546992 0.97137 0.79958 0.661447 0.974955882317224 0 0.000173040691290598 FALSE 4.06197e-06 ENSE00001105667_015 ENSE00001105667 015 11 16824729 16824898 - 45 69 56 G C 16824778 545 121 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCACTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803230 16803231 16803231 exon -5 0.942028985507246 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACAGTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 76 111 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 1 1.902 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHA7 NA NA NA ENSG00000166689 ENSE00003755260 missense_variant 2.477863 0.97201 0.82224 0.661447 0.936612902801375 0 0.000173040691290598 FALSE 1.62479e-05 ENSE00001105667_017 ENSE00001105667 017 11 16824729 16824898 - 45 69 56 G T 16824783 547 116 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCTCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803235 16803236 16803236 exon -10 0.869565217391304 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGAGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 187 83 1 0.974389956474957 0.987194978237479 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.117859133589558 0.997197099527767 0.92667355084804 NA 0.0605214273894388 NA FALSE NA 1 0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:16803236 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 missense_variant 5.371548 0.97177 0.75442 0.661447 0.994581419430159 0 0.000173040691290598 FALSE 2.03098e-05 ENSE00001105667_019 ENSE00001105667 019 11 16824729 16824898 - 45 69 56 C G 16824784 549 115 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGGTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803236 16803237 16803237 exon -11 0.855072463768116 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGACCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 68 319 1 0.98210440603978 0.99105220301989 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.12557358315438 0.997197099527767 0.92667355084804 NA 0.0643786521718501 NA FALSE NA 1 6.248 NA NA NA PLEKHA7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:16803237 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 missense_variant 4.976617 0.9938 0.9824 0.661447 0.982229125973292 0 0.000173040691290598 FALSE 2.03092e-05 ENSE00001105667_021 ENSE00001105667 021 11 16824729 16824898 - 45 69 56 C T 16824788 551 111 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTTAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803240 16803241 16803241 exon -15 0.797101449275362 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTAAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 175 248 0.999123185659101 1 0.99956159282955 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00230690684842072 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0728880419815106 NA FALSE NA 1 6.248 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/5 1 NA TCA C,T 8.236e-06 11:16803241 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 missense_variant 7.332098 0.99347 0.97733 0.661447 0.99933382888048 0 0.000173040691290598 FALSE 4.06164e-06 ENSE00001105667_022 ENSE00001105667 022 11 16824729 16824898 - 45 69 56 T C 16824794 552 105 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGACCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803246 16803247 16803247 exon -21 0.710144927536232 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGGTCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 122 241 1 0.8 0.9 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 -0.0565308228853996 0.997197099527767 0.92667355084804 NA -0.0266735508480399 NA FALSE NA 1 2.932 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/5 1 NA ATC T,C 8.236e-06 11:16803247 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 missense_variant 0.385396 0.97617 0.8904 0.661447 0.633476704175755 0 0.000173040691290598 FALSE 4.06151e-06 ENSE00001105667_023 ENSE00001105667 023 11 16824729 16824898 - 45 69 56 C G 16824811 553 88 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGAGTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803263 16803264 16803264 exon 32 0.463768115942029 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAACTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 805 51 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 1 2.805 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/5 1 NA ACT C,G 2.471e-05 11:16803264 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 missense_variant 2.476798 0.98333 0.73729 0.706298 0.948006197320682 0 0.000173040691290598 FALSE 1.62464e-05 ENSE00001105667_025 ENSE00001105667 025 11 16824729 16824898 - 45 69 56 T A 16824817 555 82 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGTTCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC 16803181 16803351 16803269 16803270 16803270 exon 26 0.376811594202899 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGTTCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 10 255 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 1 3.741 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/5 rs370250887 1 NA A:0 A:0.0002 ATC T,A 2.471e-05 11:16803270 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 missense_variant 3.511945 0.9867 0.9503 0.706298 0.975535013398651 0 0.000173040691290598 FALSE 1.62467e-05 ENSE00001105667_029 ENSE00001105667 029 11 16824729 16824898 - 45 69 56 G A 16824833 559 66 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCAGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803285 16803286 16803286 exon 10 0.144927536231884 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCTGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 387 187 0.994811737618945 1 0.997405868809472 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA -0.00200454119173543 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0707323179614325 NA FALSE NA 1 4.031 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 2/5 1 NA CGG G,A 1.647e-05 11:16803286 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 missense_variant 7.688788 0.98543 0.94524 0.706298 0.999256338918401 0 0.000173040691290598 FALSE 1.62477e-05 ENSE00001105667_030 ENSE00001105667 030 11 16824729 16824898 - 45 69 56 C T 16824851 560 48 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGTGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803303 16803304 16803304 upstr_intron -9 -0.142857142857143 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCACCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 204 15 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 0.577 -0.066 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 1 NA GCG C,T 3.295e-05 11:16803304 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant 1.885251 0.96194 0.12336 0.078448 0.829518576945414 0.544023 0.000173040691290598 FALSE 3.25013e-05 ENSE00001105667_033 ENSE00001105667 033 11 16824729 16824898 - 45 69 56 A T 16824863 563 36 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAATAGAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803315 16803316 16803316 upstr_intron -21 -0.357142857142857 TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTATTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 1875 144 0.962564440979638 0.972885830888461 0.96772513593405 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA -0.0342518378310418 0.116355008003061 0.997197099527767 0.92667355084804 NA 0.0410515850860096 NA FALSE NA 0.999 1.84 rs187469991 intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 rs187469991 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 AAA A,T 8.236e-06 11:16803316 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant 2.192956 0.97883 0.60234 0.078448 0.889594300679773 0.393991 0.000173040691290598 FALSE 2.03206e-05 ENSE00001105667_034 ENSE00001105667 034 11 16824729 16824898 - 45 69 56 G C 16824865 564 34 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAACAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803317 16803318 16803318 upstr_intron -23 -0.392857142857143 TGAGTTCTGATCTCAAACACCATGGTTAAATCTGTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 85 158 1 0.984106417013559 0.99205320850678 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.12757559412816 0.997197099527767 0.92667355084804 NA 0.0653796576587398 NA FALSE NA 0.999 0.616 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:16803318 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant 1.882267 0.9456 0.68528 0.078448 0.695157165188266 0.375925 0.000173040691290598 FALSE 0.000345528 ENSE00001105667_035 ENSE00001105667 035 11 16824729 16824898 - 45 69 56 G A 16824865 565 34 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAAAGATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803317 16803318 16803318 upstr_intron -23 -0.392857142857143 TGAGTTCTGATCTCAAACACCATGGTTAAATCTTTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 62 439 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 0.999 0.616 NA NA NA PLEKHA7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHA7 NA NA NA ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant 2.267814 0.93791 0.31988 0.078448 0.82829693832557 0.375925 0.000173040691290598 FALSE 2.43902e-05 ENSE00001105667_036 ENSE00001105667 036 11 16824729 16824898 - 45 69 56 G T 16824867 566 32 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGATATTTAACCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803319 16803320 16803320 upstr_intron -25 -0.428571428571429 TGAGTTCTGATCTCAAACACCATGGTTAAATATCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 615 246 0.999194227916808 1 0.999597113958404 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.0023779491061281 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0729235631103642 NA FALSE NA 1 1.797 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 1 NA AGA G,T 2.471e-05 11:16803320 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant 1.010576 0.97563 0.4428 0.078448 0.727534018067276 0.798932 0.000173040691290598 FALSE 2.84567e-05 ENSE00001105667_037 ENSE00001105667 037 11 16824729 16824898 - 45 69 56 A T 16824873 567 26 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTATCCATGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803325 16803326 16803326 upstr_intron -31 -0.535714285714286 TGAGTTCTGATCTCAAACACCATGGATAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 34 192 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 0.471 1.4 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 rs367938895 1 NA T:0 T:0.0001 AAC A,T 8.236e-06 11:16803326 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant 0.308537 0.32767 0.78649 0.078448 0.810906225211225 0.0977633 0.000173040691290598 FALSE 1.22026e-05 ENSE00001105667_038 ENSE00001105667 038 11 16824729 16824898 - 45 69 56 T C 16824877 568 22 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCACGGTGTTTGAGATCAGAACTCA 16803181 16803351 16803329 16803330 16803330 upstr_intron -35 -0.607142857142857 TGAGTTCTGATCTCAAACACCGTGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 28 23 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 0 -2.657 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 1 NA ATG T,C 8.237e-06 11:16803330 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant -0.03914 0.09582 0.00279 0.078448 0.42931086014909 0.046875 0.000173040691290598 FALSE 4.06987e-06 ENSE00001105667_040 ENSE00001105667 040 11 16824729 16824898 - 45 69 56 T C 16824884 570 15 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTCGAGATCAGAACTCA 16803181 16803351 16803336 16803337 16803337 upstr_intron -42 -0.732142857142857 TGAGTTCTGATCTCGAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 158 369 1 1 1 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA 0.00318372118931975 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0733264491519601 NA FALSE NA 0 -0.459 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 1 NA TTG T,C 8.237e-06 11:16803337 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant 0.271134 0.16277 0.00654 0.078448 0.5154216795731 0.046875 0.000173040691290598 FALSE 4.07561e-06 ENSE00001105667_042 ENSE00001105667 042 11 16824729 16824898 - 45 69 56 A G 16824888 572 11 GTCAGGAGGCAGCTGAGGGGTCAGCGTGTCACTCTGCTCACTCACGTCAGTGTCGCTCTCAGCGATCTTCACAGGCTTCAGACTTCGATCCTTGAGAAGGTCCCGGCCTGTCATCTGGGAGGCGAACAATTTAAAAGAGATTTAACCATGGTGTTTGAGGTCAGAACTCA 16803181 16803351 16803340 16803341 16803341 upstr_intron -46 -0.803571428571429 TGAGTTCTGACCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC TGAGTTCTGATCTCAAACACCATGGTTAAATCTCTTTTAAATTGTTCGCCTCCCAGATGACAGGCCGGGACCTTCTCAAGGATCGAAGTCTGAAGCCTGTGAAGATCGCTGAGAGCGACACTGACGTGAGTGAGCAGAGTGACACGCTGACCCCTCAGCTGCCTCCTGAC mutant NA NA NA NA NA 16 43 0.986386911963443 1 0.993193455981722 0.999551047168955 0.994843151886578 0.99681627881068 0.8565308228854 NA NA -0.0104293668472371 0.1434691771146 0.997197099527767 0.92667355084804 NA 0.0665199051336817 NA FALSE NA 0 0.004 NA NA NA PLEKHA7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:16803341 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003755260 non_coding_transcript_exon_variant 0.312883 0.18302 0.00968 0.078448 0.541867761619922 0.046875 0.000173040691290598 FALSE 4.08183e-06 ENSE00001106076_000 ENSE00001106076 000 17 33344504 33344673 - 38 84 48 NA NA NA NA NA GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 NA NA NA NA NA NA GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT natural 50 32 0.998471840972104 0.995462706194319 0.996967273583211 2038 542 0.98839889037387 0.999415963899107 0.993907427136488 0.998471840972104 0.995462706194319 0.98839889037387 0.999415963899107 0 0 0 0 0.996967273583211 0.993907427136488 0 0 0 FALSE FALSE NA NA NA NA NA RFFL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RFFL NA NA NA ENSG00000092871 ENSE00003583940 NA NA NA NA NA NA NA 0.379222205277338 FALSE NA ENSE00001106076_BRK ENSE00001106076 BRK 17 33344504 33344673 - 38 84 48 A,G; T,T NA NA NA GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACTTGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGCCGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 NA NA NA NA NA NA GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACTTGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGCCGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT control NA NA NA NA NA 959 1425 0.00537392503734859 0.0020268345895143 0.00370037981343144 0.998471840972104 0.995462706194319 0.98839889037387 0.999415963899107 NA NA -0.983024965336521 -0.997389129309593 0.996967273583211 0.993907427136488 NA -0.990207047323057 NA TRUE NA NA NA NA NA NA RFFL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RFFL NA NA NA ENSG00000092871 ENSE00003583940 NA NA NA NA NA NA NA 0.379222205277338 FALSE NA ENSE00001106105_000 ENSE00001106105 000 11 113849887 113850056 + 68 45 57 NA NA NA NA NA GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 NA NA NA NA NA NA GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG natural 618 713 0.762857879800312 0.793241193765175 0.778049536782743 1729 2525 0.90507724105126 0.946938665242201 0.926007953146731 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0 0 0 0 0.778049536782743 0.926007953146731 0 0 0 FALSE FALSE NA NA NA NA NA HTR3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HTR3A NA NA NA ENSG00000166736 ENSE00003629456 NA NA NA NA NA NA NA 1.02839422335736e-09 FALSE NA ENSE00001106105_001 ENSE00001106105 001 11 113849887 113850056 + 68 45 57 G T 113849922 2499 36 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGTGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979199 113979200 113979200 upstr_intron -33 -0.470588235294118 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGTGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 15 43 0.85 0.85 0.85 26 40 0.864135797357523 0.922912795322185 0.893524296339854 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.056758806234825 -0.0409414436937374 -0.0240258699200168 0.778049536782743 0.926007953146731 0.0719504632172566 -0.0324836568068771 0.104434120024134 FALSE FALSE 0.32 0.056 . intron_variant MODIFIER HTR3A HGNC 5297 ENST00000355556 2/7 1 NA GGG G,T 1.647e-05 11:113979200 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant -0.222793 0.17276 0.02153 0.056701 0.507059506500232 0.0492444 1.02839422335736e-09 FALSE 8.13855e-06 ENSE00001106105_002 ENSE00001106105 002 11 113849887 113850056 + 68 45 57 G T 113849923 2500 37 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGTTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979200 113979201 113979201 upstr_intron -32 -0.455882352941176 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGTTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 45 52 0.85 0.85 0.85 197 407 0.928355275333514 0.970788563588074 0.949571919460794 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.0567588062348249 0.0232780342822542 0.0238498983458723 0.778049536782743 0.926007953146731 0.0719504632172566 0.0235639663140632 0.0483864969031934 FALSE FALSE 0.302 1.525 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113979201 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant -0.388075 0.16288 0.05214 0.056701 0.461004624601629 0.0492444 1.02839422335736e-09 FALSE 0.00281571 ENSE00001106105_003 ENSE00001106105 003 11 113849887 113850056 + 68 45 57 G A 113849923 2501 37 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGATTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979200 113979201 113979201 upstr_intron -32 -0.455882352941176 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGATTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 201 703 0.960756898403106 0.959797776421257 0.960277337412182 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA 0.0556796573518459 0.0128591111790558 0.778049536782743 0.926007953146731 NA 0.0342693842654508 NA FALSE NA 0.302 1.525 NA NA NA HTR3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HTR3A NA NA NA ENSG00000166736 ENSE00003629456 intron_variant -0.147353 0.12267 0.00736 0.056701 0.33168820101319 0.0492444 1.02839422335736e-09 FALSE 1.22068e-05 ENSE00001106105_004 ENSE00001106105 004 11 113849887 113850056 + 68 45 57 C T 113849941 2502 55 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCTTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979218 113979219 113979219 upstr_intron -14 -0.191176470588235 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCTTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 25 35 0.85 0.946394299004495 0.898197149502248 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.15315310523932 NA NA 0.778049536782743 0.926007953146731 0.120147612719504 NA NA NA FALSE 0 -0.636 . intron_variant MODIFIER HTR3A HGNC 5297 ENST00000355556 2/7 1 NA CCT C,T 8.237e-06 11:113979219 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant 0.024196 0.19177 0.03056 0.056701 0.580814941624313 0.158463 1.02839422335736e-09 FALSE 4.06884e-06 ENSE00001106105_005 ENSE00001106105 005 11 113849887 113850056 + 68 45 57 C G 113849952 2503 66 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCGAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979229 113979230 113979230 upstr_intron -3 -0.0294117647058824 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCGAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 132 283 0 0 0 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 -0.762857879800312 -0.793241193765175 NA NA 0.778049536782743 0.926007953146731 -0.778049536782743 NA NA NA TRUE 0.122 1.37 . splice_region_variant&intron_variant LOW HTR3A HGNC 5297 ENST00000355556 2/7 rs569195874 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CCA C,G 8.236e-06 11:113979230 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 splice_region_variant 0.913731 0.9453 0.71755 0.056701 0.744716239832229 0.294288 1.02839422335736e-09 FALSE 8.14087e-06 ENSE00001106105_006 ENSE00001106105 006 11 113849887 113850056 + 68 45 57 G A 113849955 2504 69 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGAATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979232 113979233 113979233 exon 1 0.0222222222222222 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGAATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 100 179 0 0 0 1110 335 0.0104876577986593 0.113724961983103 0.0621063098908812 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 -0.762857879800312 -0.793241193765175 -0.894589583252601 -0.833213703259098 0.778049536782743 0.926007953146731 -0.778049536782743 -0.86390164325585 0.0858521064731063 TRUE TRUE 1 7.662 . missense_variant&splice_region_variant MODERATE HTR3A HGNC 5297 ENST00000355556 3/8 1 deleterious(0.03) possibly_damaging(0.654) NA GGA G,A 8.236e-06 11:113979233 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 missense_variant 5.136943 0.99282 0.98276 0.695654 0.998907961444219 0 1.02839422335736e-09 FALSE 4.07077e-06 ENSE00001106105_007 ENSE00001106105 007 11 113849887 113850056 + 68 45 57 G A 113849969 2505 83 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAAGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979246 113979247 113979247 exon 15 0.333333333333333 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAAGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 17 39 0.899700554328259 0.965838516263495 0.932769535295877 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.136842674527948 0.17259732249832 NA NA 0.778049536782743 0.926007953146731 0.154719998513134 NA NA NA FALSE 1 1.83 . synonymous_variant LOW HTR3A HGNC 5297 ENST00000355556 3/8 rs370292216 1 NA A:0 A:0.0001 AGG G,A 8.237e-06 11:113979247 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 synonymous_variant 0.825116 0.97099 0.88168 0.695654 0.672078599709678 0 1.02839422335736e-09 FALSE 4.07704e-06 ENSE00001106105_008 ENSE00001106105 008 11 113849887 113850056 + 68 45 57 T C 113849971 2506 85 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGCGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979248 113979249 113979249 exon 17 0.377777777777778 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGCGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 441 27 0.995746404440833 1 0.997873202220417 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA 0.0906691633895732 0.0530613347577985 0.778049536782743 0.926007953146731 NA 0.0718652490736859 NA FALSE NA 1 7.754 . missense_variant MODERATE HTR3A HGNC 5297 ENST00000355556 3/8 1 tolerated(0.2) possibly_damaging(0.792) NA GTG T,C 8.237e-06 11:113979249 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 missense_variant 4.606674 0.99016 0.98789 0.695654 0.998430634578152 0 1.02839422335736e-09 FALSE 8.15534e-06 ENSE00001106105_009 ENSE00001106105 009 11 113849887 113850056 + 68 45 57 G T 113849972 2507 86 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTTCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979249 113979250 113979250 exon 18 0.4 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTTCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 86 32 0.0152295579121084 0.0623296634688899 0.0387796106904991 1529 609 0.800105380865634 0.800474214036664 0.800289797451149 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 -0.747628321888203 -0.730911530296285 -0.104971860185626 -0.146464451205538 0.778049536782743 0.926007953146731 -0.739269926092244 -0.125718155695582 0.613551770396662 FALSE TRUE 0 -2.052 rs147444930 synonymous_variant LOW HTR3A HGNC 5297 ENST00000355556 3/8 rs147444930 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0018 T:0 TGC G,T 0.0001565 11:113979250 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 synonymous_variant 0.683839 0.13764 0.03166 0.695654 0.614995675908561 0 1.02839422335736e-09 FALSE 0.000110125 ENSE00001106105_010 ENSE00001106105 010 11 113849887 113850056 + 68 45 57 A G 113849976 2508 90 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGGCCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979253 113979254 113979254 exon 22 0.488888888888889 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGGCCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 258 110 0.183938945442897 0.225737198854323 0.20483807214861 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 -0.578918934357415 -0.567503994910852 NA NA 0.778049536782743 0.926007953146731 -0.573211464634133 NA NA NA TRUE 1 9.003 . missense_variant MODERATE HTR3A HGNC 5297 ENST00000355556 3/8 1 deleterious(0.01) possibly_damaging(0.474) NA GAC A,G 8.237e-06 11:113979254 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 missense_variant 5.517201 0.99071 0.99292 0.695654 0.990924075828415 0 1.02839422335736e-09 FALSE NA ENSE00001106105_011 ENSE00001106105 011 11 113849887 113850056 + 68 45 57 C G 113849977 2509 91 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGAGCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979254 113979255 113979255 exon -23 0.511111111111111 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGAGCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 1231 228 0 0 0 346 607 0.0034910439968326 0.0118448427811646 0.00766794338899858 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 -0.762857879800312 -0.793241193765175 -0.901586197054427 -0.935093822461037 0.778049536782743 0.926007953146731 -0.778049536782743 -0.918340009757732 0.140290472974989 TRUE TRUE 1 7.54 . missense_variant MODERATE HTR3A HGNC 5297 ENST00000355556 3/8 1 deleterious(0.01) possibly_damaging(0.883) NA ACC C,G 8.237e-06 11:113979255 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 missense_variant 4.948379 0.99299 0.9911 0.695654 0.996456258493715 0 1.02839422335736e-09 FALSE 4.08223e-06 ENSE00001106105_012 ENSE00001106105 012 11 113849887 113850056 + 68 45 57 C T 113849980 2510 94 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCATCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979257 113979258 113979258 exon -20 0.577777777777778 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCATCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 37 48 0.85 0.85 0.85 255 22 0.988108290584188 0.942928950093882 0.965518620339035 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.056758806234825 0.0830310495329275 -0.00400971514831994 0.778049536782743 0.926007953146731 0.0719504632172566 0.0395106671923038 0.0324397960249528 FALSE FALSE 1 7.54 . missense_variant MODERATE HTR3A HGNC 5297 ENST00000355556 3/8 1 deleterious(0) probably_damaging(0.994) NA ACC C,T 8.237e-06 11:113979258 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 missense_variant 7.014498 0.99262 0.98881 0.695654 0.998836051647287 0 1.02839422335736e-09 FALSE 8.16546e-06 ENSE00001106105_013 ENSE00001106105 013 11 113849887 113850056 + 68 45 57 A G 113849985 2511 99 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACGTCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979262 113979263 113979263 exon -15 0.688888888888889 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACGTCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 98 162 0.961306544404787 0.92514418024021 0.943225362322498 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA 0.0562293033535266 -0.0217944850019919 0.778049536782743 0.926007953146731 NA 0.0172174091757674 NA FALSE NA 1 4.744 . missense_variant MODERATE HTR3A HGNC 5297 ENST00000355556 3/8 1 tolerated(0.29) benign(0.108) NA CAT A,G 8.237e-06 11:113979263 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 missense_variant 2.081893 0.98352 0.90046 0.695654 0.987497960018833 0 1.02839422335736e-09 FALSE NA ENSE00001106105_014 ENSE00001106105 014 11 113849887 113850056 + 68 45 57 C G 113849987 2512 101 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATGTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979264 113979265 113979265 exon -13 0.733333333333333 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATGTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 76 71 0 0 0 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 -0.762857879800312 -0.793241193765175 NA NA 0.778049536782743 0.926007953146731 -0.778049536782743 NA NA NA TRUE 1 1.982 . missense_variant MODERATE HTR3A HGNC 5297 ENST00000355556 3/8 1 deleterious(0) probably_damaging(0.94) NA TCT C,G 8.238e-06 11:113979265 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 missense_variant 5.517651 0.97348 0.89138 0.695654 0.994458933939026 0 1.02839422335736e-09 FALSE 4.09195e-06 ENSE00001106105_016 ENSE00001106105 016 11 113849887 113850056 + 68 45 57 G A 113849995 2514 109 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCAGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979272 113979273 113979273 exon -5 0.911111111111111 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCAGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 72 78 0.85 0.891722603008781 0.87086130150439 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.0984814092436057 NA NA 0.778049536782743 0.926007953146731 0.092811764721647 NA NA NA FALSE 1 7.652 . missense_variant MODERATE HTR3A HGNC 5297 ENST00000355556 3/8 COSM1506904 1 tolerated(0.07) possibly_damaging(0.63) NA CGG G,A 1.648e-05 11:113979273 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 missense_variant 6.349568 0.99282 0.98711 0.718356 0.999009264531085 0 1.02839422335736e-09 FALSE 1.23318e-05 ENSE00001106105_017 ENSE00001106105 017 11 113849887 113850056 + 68 45 57 G A 113849996 2515 110 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGACAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979273 113979274 113979274 exon -4 0.933333333333333 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGACAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 26 25 0.85 0.85 0.85 47 139 0.95 0.959905219755956 0.954952609877978 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.056758806234825 0.0449227589487399 0.0129665545137541 0.778049536782743 0.926007953146731 0.0719504632172566 0.028944656731247 0.0430058064860097 FALSE FALSE 1 1.06 . synonymous_variant LOW HTR3A HGNC 5297 ENST00000355556 3/8 1 NA GGC G,A 1.648e-05 11:113979274 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 synonymous_variant 1.303009 0.96294 0.71911 0.718356 0.686344652955799 0 1.02839422335736e-09 FALSE 2.88519e-05 ENSE00001106105_018 ENSE00001106105 018 11 113849887 113850056 + 68 45 57 C G 113850005 2516 119 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGGAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979282 113979283 113979283 downstr_intron 6 1.10714285714286 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGGAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 85 31 0 0 0 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 -0.762857879800312 -0.793241193765175 NA NA 0.778049536782743 0.926007953146731 -0.778049536782743 NA NA NA TRUE 0.006 -0.134 . splice_region_variant&intron_variant LOW HTR3A HGNC 5297 ENST00000355556 3/7 1 NA GCA C,G 8.249e-06 11:113979283 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 splice_region_variant 1.891208 0.97135 0.1122 0.06567 0.922978118446269 0.547643 1.02839422335736e-09 FALSE NA ENSE00001106105_019 ENSE00001106105 019 11 113849887 113850056 + 68 45 57 A C 113850006 2517 120 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCCGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979283 113979284 113979284 downstr_intron 7 1.125 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCCGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 73 17 0.815342106520444 0.8 0.807671053260222 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA -0.0897351345308165 -0.146938665242201 0.778049536782743 0.926007953146731 NA -0.118336899886509 NA FALSE NA 0 -0.237 rs61905785 splice_region_variant&intron_variant LOW HTR3A HGNC 5297 ENST00000355556 3/7 rs61905785 1 C:0.0381 C:0.0045 C:0.0548 NA C:0.002 C:0.0855 C:0.0603 C:0.0136 C:0.0782 CAG A,C 0.065 11:113979284 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 splice_region_variant 0.337455 0.28367 0.02808 0.06567 0.663724830315155 0.426902 1.02839422335736e-09 FALSE 0.0680705 ENSE00001106105_020 ENSE00001106105 020 11 113849887 113850056 + 68 45 57 C T 113850011 2518 125 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCTGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979288 113979289 113979289 downstr_intron 12 1.21428571428571 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCTGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 581 627 0.800277305646841 0.797733177136437 0.799005241391639 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA -0.104799935404419 -0.149205488105764 0.778049536782743 0.926007953146731 NA -0.127002711755092 NA FALSE NA 0 -1.688 . intron_variant MODIFIER HTR3A HGNC 5297 ENST00000355556 3/7 1 NA CCG C,T 1.648e-05 11:113979289 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant -0.337854 0.11312 0.01249 0.06567 0.774759634244454 0.125362 1.02839422335736e-09 FALSE 3.28224e-05 ENSE00001106105_021 ENSE00001106105 021 11 113849887 113850056 + 68 45 57 G T 113850012 2519 126 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCTCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979289 113979290 113979290 downstr_intron 13 1.23214285714286 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCTCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 184 149 0.85 0.85 0.85 442 237 0.95 0.955285556729355 0.952642778364677 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.056758806234825 0.0449227589487399 0.00834689148715329 0.778049536782743 0.926007953146731 0.0719504632172566 0.0266348252179466 0.04531563799931 FALSE FALSE 0.001 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113979290 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant -0.006256 0.82691 0.22036 0.06567 0.475218988799266 0.125362 1.02839422335736e-09 FALSE 4.11188e-06 ENSE00001106105_022 ENSE00001106105 022 11 113849887 113850056 + 68 45 57 G A 113850012 2520 126 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCACCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979289 113979290 113979290 downstr_intron 13 1.23214285714286 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCACCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 163 118 0.846629925966557 0.805514418671221 0.826072172318889 99 264 0.986921570128599 0.920701146840931 0.953811358484765 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.083772046166245 0.0122732249060462 0.0818443290773385 -0.0262375184012708 0.778049536782743 0.926007953146731 0.0480226355361456 0.0278034053380339 0.0202192301981117 FALSE FALSE 0.001 0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HTR3A NA NA NA ENSG00000166736 ENSE00003629456 intron_variant 0.186257 0.83276 0.25097 0.06567 0.537921672131136 0.125362 1.02839422335736e-09 FALSE 8.22375e-06 ENSE00001106105_023 ENSE00001106105 023 11 113849887 113850056 + 68 45 57 C T 113850013 2521 127 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGTCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979290 113979291 113979291 downstr_intron 14 1.25 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGTCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 409 255 0.911425732772843 0.96680295781583 0.939114345294336 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA 0.00634849172158258 0.0198642925736283 0.778049536782743 0.926007953146731 NA 0.0131063921476055 NA FALSE NA 0 0.983 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113979291 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant 0.099077 0.67436 0.16322 0.06567 0.634972604430382 0.125362 1.02839422335736e-09 FALSE 0.000562864 ENSE00001106105_024 ENSE00001106105 024 11 113849887 113850056 + 68 45 57 C A 113850013 2522 127 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGACCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979290 113979291 113979291 downstr_intron 14 1.25 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGACCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 666 66 0.912790584442832 0.8 0.856395292221416 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA 0.00771334339157148 -0.146938665242201 0.778049536782743 0.926007953146731 NA -0.069612660925315 NA FALSE NA 0 0.983 NA NA NA HTR3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HTR3A NA NA NA ENSG00000166736 ENSE00003629456 intron_variant 0.067411 0.74909 0.30504 0.06567 0.524995412282016 0.125362 1.02839422335736e-09 FALSE 4.51935e-05 ENSE00001106105_025 ENSE00001106105 025 11 113849887 113850056 + 68 45 57 C T 113850024 2523 138 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCTCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979301 113979302 113979302 downstr_intron 25 1.44642857142857 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCTCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 37 37 0.788377263149953 0.85 0.819188631574977 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0255193833496417 0.056758806234825 NA NA 0.778049536782743 0.926007953146731 0.0411390947922333 NA NA NA FALSE 0 -0.984 . intron_variant MODIFIER HTR3A HGNC 5297 ENST00000355556 3/7 1 NA CCC C,T 1.648e-05 11:113979302 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant 0.161895 0.17002 0.01539 0.06567 0.748612070491144 0.065943 1.02839422335736e-09 FALSE 1.64684e-05 ENSE00001106105_026 ENSE00001106105 026 11 113849887 113850056 + 68 45 57 C T 113850025 2524 139 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCTCCGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979302 113979303 113979303 downstr_intron 26 1.46428571428571 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCTCCGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 378 884 0.802129326680749 0.8 0.801064663340374 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA -0.102947914370511 -0.146938665242201 0.778049536782743 0.926007953146731 NA -0.124943289806356 NA FALSE NA 0 0.134 . intron_variant MODIFIER HTR3A HGNC 5297 ENST00000355556 3/7 1 NA CCC C,T 8.238e-06 11:113979303 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant 0.448299 0.30389 0.10146 0.06567 0.760071402842258 0.590254 1.02839422335736e-09 FALSE 8.23181e-06 ENSE00001106105_027 ENSE00001106105 027 11 113849887 113850056 + 68 45 57 C G 113850027 2525 141 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCGGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979304 113979305 113979305 downstr_intron 28 1.5 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCGGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 38 19 0.131147501252618 0 0.0655737506263092 1165 1872 0.79656987640777 0.799528870450413 0.798049373429091 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 -0.631710378547693 -0.793241193765175 -0.108507364643491 -0.147409794791789 0.778049536782743 0.926007953146731 -0.712475786156434 -0.12795857971764 0.584517206438794 FALSE TRUE 0 0.027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113979305 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant 0.039913 0.24875 0.16461 0.06567 0.543332197341974 0.065943 1.02839422335736e-09 FALSE 4.12042e-06 ENSE00001106105_028 ENSE00001106105 028 11 113849887 113850056 + 68 45 57 C T 113850027 2526 141 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCTGTTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979304 113979305 113979305 downstr_intron 28 1.5 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCTGTTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 18 62 0.85 0.85 0.85 635 58 0.821199560011871 0.905780000971922 0.863489780491897 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.0567588062348251 -0.0838776810393889 -0.0411586642702797 0.778049536782743 0.926007953146731 0.0719504632172567 -0.0625181726548343 0.134468635872091 FALSE FALSE 0 0.027 NA NA NA HTR3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HTR3A NA NA NA ENSG00000166736 ENSE00003629456 intron_variant 0.241885 0.24168 0.07475 0.06567 0.75283122431996 0.065943 1.02839422335736e-09 FALSE 2.88429e-05 ENSE00001106105_029 ENSE00001106105 029 11 113849887 113850056 + 68 45 57 G A 113850028 2527 142 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCATTACCCATCCTCCTGGGAAGGAGTCGGG 113979164 113979334 113979305 113979306 113979306 downstr_intron 29 1.51785714285714 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCATTACCCATCCTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 100 92 0.844499212163004 0.85 0.847249606081502 48 256 0.95 0.943327793556657 0.946663896778328 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0816413323626923 0.056758806234825 0.0449227589487399 -0.00361087168554486 0.778049536782743 0.926007953146731 0.0692000692987587 0.0206559436315975 0.0485441256671612 FALSE FALSE 0 -3.886 . intron_variant MODIFIER HTR3A HGNC 5297 ENST00000355556 3/7 rs374557123 1 NA A:0.0005 A:0 CGT G,A 0.00014 11:113979306 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant -0.127 0.08994 0.00061 0.06567 0.604811330198679 0.0505168 1.02839422335736e-09 FALSE 9.89266e-05 ENSE00001106105_030 ENSE00001106105 030 11 113849887 113850056 + 68 45 57 C T 113850038 2528 152 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCTTCCTGGGAAGGAGTCGGG 113979164 113979334 113979315 113979316 113979316 downstr_intron 39 1.69642857142857 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCTTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 231 183 0.806073328756003 0.654698021733931 0.730385675244967 2473 799 0.92235627674019 0.925564159148974 0.923960217944582 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0432154489556914 -0.138543172031244 0.0172790356889304 -0.0213745060932273 0.778049536782743 0.926007953146731 -0.0476638615377761 -0.00204773520214846 0.0456161263356277 FALSE FALSE 0 -0.349 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:113979316 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant 0.071796 0.11078 0.00156 0.06567 0.619361641439979 0.0505168 1.02839422335736e-09 FALSE 1.2392e-05 ENSE00001106105_031 ENSE00001106105 031 11 113849887 113850056 + 68 45 57 C G 113850038 2529 152 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCGTCCTGGGAAGGAGTCGGG 113979164 113979334 113979315 113979316 113979316 downstr_intron 39 1.69642857142857 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCGTCCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 32 35 0.832678851648751 0.85 0.841339425824375 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0698209718484391 0.056758806234825 NA NA 0.778049536782743 0.926007953146731 0.063289889041632 NA NA NA FALSE 0 -0.349 NA NA NA HTR3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HTR3A NA NA NA ENSG00000166736 ENSE00003629456 intron_variant -0.1095 0.14563 0.02523 0.06567 0.452394976151263 0.0505168 1.02839422335736e-09 FALSE 4.13066e-06 ENSE00001106105_032 ENSE00001106105 032 11 113849887 113850056 + 68 45 57 C T 113850040 2530 154 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTTCTGGGAAGGAGTCGGG 113979164 113979334 113979317 113979318 113979318 downstr_intron 41 1.73214285714286 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTTCTGGGAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant 36 57 0.85 0.85 0.85 NA NA NA NA NA 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 0.0871421201996883 0.0567588062348249 NA NA 0.778049536782743 0.926007953146731 0.0719504632172566 NA NA NA FALSE 0 -0.204 . intron_variant MODIFIER HTR3A HGNC 5297 ENST00000355556 3/7 1 NA TCC C,T 2.471e-05 11:113979318 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant 0.246994 0.12723 0.00299 0.06567 0.604726467100202 0.0505168 1.02839422335736e-09 FALSE 1.65445e-05 ENSE00001106105_033 ENSE00001106105 033 11 113849887 113850056 + 68 45 57 G A 113850045 2531 159 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGAAAGGAGTCGGG 113979164 113979334 113979322 113979323 113979323 downstr_intron 46 1.82142857142857 GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGAAAGGAGTCGGG GGCTGGCATGTGCAGGGTGGCCCTCCAGTCCACAGGGTTACTTGTTCAAGCTCCCTTTCCTTTCCCAGGATGAGAAGAATCAGGTGCTGACCACCTACATCTGGTACCGGCAGGTGAGCAGACCCGCCCCTCCCTGCCCCCGTTACCCATCCTCCTGGGAAGGAGTCGGG mutant NA NA NA NA NA 818 531 0.853046616450136 0.827844905599944 0.84044576102504 0.762857879800312 0.793241193765175 0.90507724105126 0.946938665242201 NA NA -0.0520306246011244 -0.119093759642258 0.778049536782743 0.926007953146731 NA -0.0855621921216911 NA FALSE NA 0.055 -0.097 . intron_variant MODIFIER HTR3A HGNC 5297 ENST00000355556 3/7 1 NA GGA G,A 8.238e-06 11:113979323 HTR3A HGNC Symbol protein_coding 15432 ENSG00000166736 ENSE00003629456 intron_variant 0.239432 0.10707 0.00653 0.06567 0.787204638834822 0.0505168 1.02839422335736e-09 FALSE 4.14845e-06 ENSE00001106175_000 ENSE00001106175 000 17 33479867 33480036 + 45 90 35 NA NA NA NA NA CTTCTGCTGGCTGGATGGCACTGGCCAGCACTCACCTTTTCCCGCTTATCAGCCTCACTGTTTTCATCCAAGAGGATCTCAAACATCTTCTGTACCCTCGAGTCTGTGGAGAACTGCACTCGGAGCTGAGGAGAGAGGAGGGAGTGGGGAAGGAGGCAGGTGGGGTCCAC 35152847 35153017 NA NA NA NA NA NA GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG natural 36 33 0.990489607975022 0.994814199876268 0.992651903925645 1295 2474 0.944397503359471 0.978155702400983 0.961276602880227 0.990489607975022 0.994814199876268 0.944397503359471 0.978155702400983 0 0 0 0 0.992651903925645 0.961276602880227 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC45B NA NA NA ENSG00000141161 ENSE00001106175 NA NA NA NA NA NA NA 2.76564282824349e-08 FALSE NA ENSE00001106175_010 ENSE00001106175 010 17 33479867 33480036 + 45 90 35 G T 33479916 1477 50 CTTCTGCTGGCTGGATGGCACTGGCCAGCACTCACCTTTTCCCGCTTATCAGCCTCACTGTTTTCATCCAAGAGGATCTCAAACATCTTCTGTACCCTCGAGTCTGTGGAGAACTGCACTAGGAGCTGAGGAGAGAGGAGGGAGTGGGGAAGGAGGCAGGTGGGGTCCAC 35152847 35153017 35152896 35152897 35152897 exon 5 0.0555555555555556 GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCTAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG mutant NA NA NA NA NA 13 592 0.95 0.828773839212897 0.889386919606449 0.990489607975022 0.994814199876268 0.944397503359471 0.978155702400983 NA NA 0.00560249664052936 -0.149381863188086 0.992651903925645 0.961276602880227 NA -0.0718896832737781 NA FALSE NA 0.843 1.405 NA NA NA UNC45B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:35152897 UNC45B HGNC Symbol protein_coding 41528 ENSG00000141161 ENSE00001106175 missense_variant 3.606233 0.98075 0.9429 0.497415 0.996034949444874 0 2.76564282824349e-08 FALSE 4.06111e-06 ENSE00001106175_019 ENSE00001106175 019 17 33479867 33480036 + 45 90 35 C G 33479963 1486 97 CTTCTGCTGGCTGGATGGCACTGGCCAGCACTCACCTTTTCCCGCTTATCAGCCTCACTGTTTTCATCCAAGACGATCTCAAACATCTTCTGTACCCTCGAGTCTGTGGAGAACTGCACTCGGAGCTGAGGAGAGAGGAGGGAGTGGGGAAGGAGGCAGGTGGGGTCCAC 35152847 35153017 35152943 35152944 35152944 exon -39 0.577777777777778 GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCGTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG mutant NA NA NA NA NA 36 10 1 1 1 0.990489607975022 0.994814199876268 0.944397503359471 0.978155702400983 NA NA 0.0556024966405294 0.0218442975990173 0.992651903925645 0.961276602880227 NA 0.0387233971197734 NA FALSE NA 0.997 2.555 . missense_variant MODERATE UNC45B HGNC 14304 ENST00000378449 5/18 1 tolerated(0.15) possibly_damaging(0.801) NA CCT C,G 8.236e-06 17:35152944 UNC45B HGNC Symbol protein_coding 41528 ENSG00000141161 ENSE00001106175 missense_variant 1.796179 0.99019 0.98354 0.497415 0.997957902276628 0 2.76564282824349e-08 FALSE 4.06138e-06 ENSE00001106175_024 ENSE00001106175 024 17 33479867 33480036 + 45 90 35 C T 33479993 1491 127 CTTCTGCTGGCTGGATGGCACTGGCCAGCACTCACCTTTTCCCACTTATCAGCCTCACTGTTTTCATCCAAGAGGATCTCAAACATCTTCTGTACCCTCGAGTCTGTGGAGAACTGCACTCGGAGCTGAGGAGAGAGGAGGGAGTGGGGAAGGAGGCAGGTGGGGTCCAC 35152847 35153017 35152973 35152974 35152974 exon -9 0.911111111111111 GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGTGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG mutant NA NA NA NA NA 40 154 0.950186338808045 1 0.975093169404022 0.990489607975022 0.994814199876268 0.944397503359471 0.978155702400983 NA NA 0.00578883544857434 0.0218442975990173 0.992651903925645 0.961276602880227 NA 0.0138165665237958 NA FALSE NA 0.836 2.112 . missense_variant MODERATE UNC45B HGNC 14304 ENST00000378449 5/18 rs199997253&COSM346470&COSM4065536 1 deleterious(0) possibly_damaging(0.722) NA GCG C,T 0.0001235 17:35152974 UNC45B HGNC Symbol protein_coding 41528 ENSG00000141161 ENSE00001106175 missense_variant 4.432177 0.91559 0.92016 0.497415 0.991081954707489 0 2.76564282824349e-08 FALSE 9.39335e-05 ENSE00001106175_026 ENSE00001106175 026 17 33479867 33480036 + 45 90 35 T G 33480007 1493 141 CTTCTGCTGGCTGGATGGCACTGGCCAGCCCTCACCTTTTCCCGCTTATCAGCCTCACTGTTTTCATCCAAGAGGATCTCAAACATCTTCTGTACCCTCGAGTCTGTGGAGAACTGCACTCGGAGCTGAGGAGAGAGGAGGGAGTGGGGAAGGAGGCAGGTGGGGTCCAC 35152847 35153017 35152987 35152988 35152988 downstr_intron 6 1.17647058823529 GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGGGCTGGCCAGTGCCATCCAGCCAGCAGAAG GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG mutant 141 169 0.85 0.85 0.85 NA NA NA NA NA 0.990489607975022 0.994814199876268 0.944397503359471 0.978155702400983 -0.140489607975022 -0.144814199876268 NA NA 0.992651903925645 0.961276602880227 -0.142651903925645 NA NA NA FALSE 0.518 0.288 . splice_region_variant&intron_variant LOW UNC45B HGNC 14304 ENST00000378449 5/17 1 NA GTG T,G 4.119e-05 17:35152988 UNC45B HGNC Symbol protein_coding 41528 ENSG00000141161 ENSE00001106175 splice_region_variant -0.034489 0.29124 0.09744 0.056701 0.45688936351406 0.369707 2.76564282824349e-08 FALSE 3.38181e-05 ENSE00001106175_BRK ENSE00001106175 BRK 17 33479867 33480036 + 45 90 35 A,G; T,T NA NA NA CTTCTGCTGGCTGGATGGCACTGGCCAGCACTCGGCTTTTCCCGCTTATCAGCCTCACTGTTTTCATCCAAGAGGATCTCAAACATCTTCTGTACCCTCGAGTCTGTGGAGAACTGCACTCGGAGAAGAGGAGAGAGGAGGGAGTGGGGAAGGAGGCAGGTGGGGTCCAC 35152847 35153017 NA NA NA NA NA NA GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCTTCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGCCGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG GTGGACCCCACCTGCCTCCTTCCCCACTCCCTCCTCTCTCCTCAGCTCCGAGTGCAGTTCTCCACAGACTCGAGGGTACAGAAGATGTTTGAGATCCTCTTGGATGAAAACAGTGAGGCTGATAAGCGGGAAAAGGTGAGTGCTGGCCAGTGCCATCCAGCCAGCAGAAG control 90 48 0 0 0 NA NA NA NA NA 0.990489607975022 0.994814199876268 0.944397503359471 0.978155702400983 -0.990489607975022 -0.994814199876268 NA NA 0.992651903925645 0.961276602880227 -0.992651903925645 NA NA NA TRUE NA NA NA NA NA UNC45B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC45B NA NA NA ENSG00000141161 ENSE00001106175 NA NA NA NA NA NA NA 2.76564282824349e-08 FALSE NA ENSE00001106577_000 ENSE00001106577 000 11 18102925 18103094 - 33 93 44 NA NA NA NA NA GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 NA NA NA NA NA NA GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG natural 13 15 0.978063558580436 1 0.989031779290218 1507 1565 0.864492568227545 0.976493441285312 0.920493004756428 0.978063558580436 1 0.864492568227545 0.976493441285312 0 0 0 0 0.989031779290218 0.920493004756428 0 0 0 FALSE FALSE NA NA NA NA NA SAAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAAL1 NA NA NA ENSG00000166788 ENSE00003680373 NA NA NA NA NA NA NA 0.000128876571862682 FALSE NA ENSE00001106577_001 ENSE00001106577 001 11 18102925 18103094 - 33 93 44 A G 18102936 662 159 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATACAGGTGGCCAAG 18081377 18081547 18081388 18081389 18081389 downstr_intron 22 1.6875 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATACAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 101 498 1 1 1 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.135507431772455 0.0235065587146878 0.989031779290218 0.920493004756428 NA 0.0795069952435716 NA FALSE NA 0.002 1.839 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA TAT A,G 2.471e-05 11:18081389 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 intron_variant 1.091697 0.25188 0.38788 0.359288 0.856002011073747 0.247331 0.000128876571862682 FALSE 2.50954e-05 ENSE00001106577_002 ENSE00001106577 002 11 18102925 18103094 - 33 93 44 A T 18102942 663 153 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAAAGTATATAGGTGGCCAAG 18081377 18081547 18081394 18081395 18081395 downstr_intron 16 1.5 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAAAGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 811 291 0.99918525461 0.999456132720505 0.999320693665252 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.134692686382456 0.0229626914351924 0.989031779290218 0.920493004756428 NA 0.078827688908824 NA FALSE NA 0 -0.259 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA CAT A,T 8.236e-06 11:18081395 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 intron_variant 1.419593 0.21111 0.11548 0.359288 0.831713574803856 0.247331 0.000128876571862682 FALSE 4.10229e-06 ENSE00001106577_004 ENSE00001106577 004 11 18102925 18103094 - 33 93 44 T A 18102954 665 141 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGTGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081406 18081407 18081407 downstr_intron 4 1.125 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGTGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 42 247 0 0 0 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA -0.864492568227545 -0.976493441285312 0.989031779290218 0.920493004756428 NA -0.920493004756428 NA TRUE NA 1 4.212 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA CTC T,A 1.647e-05 11:18081407 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 splice_region_variant 2.325626 0.95232 0.92497 0.359288 0.958207856078621 0.967882 0.000128876571862682 FALSE 1.2219e-05 ENSE00001106577_006 ENSE00001106577 006 11 18102925 18103094 - 33 93 44 G A 18102963 667 132 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCTCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081415 18081416 18081416 exon -6 0.946236559139785 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCTCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 743 188 0.997593677599885 0.98952920204627 0.993561439823077 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.13310110937234 0.0130357607609577 0.989031779290218 0.920493004756428 NA 0.073068435066649 NA FALSE NA 0.829 0.901 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 rs377499103 1 NA A:0.0002 A:0 GGG G,A 8.236e-06 11:18081416 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 missense_variant 1.132912 0.55569 0.46381 0.719381 0.883262714736237 0 0.000128876571862682 FALSE 4.06266e-06 ENSE00001106577_007 ENSE00001106577 007 11 18102925 18103094 - 33 93 44 T C 18102966 668 129 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATGGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081418 18081419 18081419 exon -9 0.913978494623656 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATGGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 45 6986 0.955595624795554 0.999481819422762 0.977538722109158 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.0911030565680093 0.0229883781374499 0.989031779290218 0.920493004756428 NA 0.0570457173527296 NA FALSE NA 0.386 0.157 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA CTA T,C 3.295e-05 11:18081419 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 stop_lost 0.758375 0.27069 0.29846 0.719381 0.407924357551755 0 0.000128876571862682 FALSE 2.84361e-05 ENSE00001106577_008 ENSE00001106577 008 11 18102925 18103094 - 33 93 44 A G 18102977 669 118 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCCTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081429 18081430 18081430 exon -20 0.795698924731183 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCCTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 19 840 1 0.998444573293218 0.999222286646609 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.135507431772455 0.0219511320079062 0.989031779290218 0.920493004756428 NA 0.0787292818901808 NA FALSE NA 1 5.407 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA AAG A,G 8.236e-06 11:18081430 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 missense_variant 6.667122 0.95432 0.89373 0.719381 0.998702784768985 0 0.000128876571862682 FALSE 8.12394e-06 ENSE00001106577_010 ENSE00001106577 010 11 18102925 18103094 - 33 93 44 T G 18102991 671 104 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCCTTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081443 18081444 18081444 exon -34 0.645161290322581 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCCTTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 104 161 1 0.995378567829952 0.997689283914976 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.135507431772455 0.0188851265446395 0.989031779290218 0.920493004756428 NA 0.0771962791585474 NA FALSE NA 0.037 -1.363 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA ATG T,G 8.236e-06 11:18081444 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 missense_variant 1.359401 0.89701 0.19764 0.719381 0.910427464198456 0 0.000128876571862682 FALSE 4.06171e-06 ENSE00001106577_011 ENSE00001106577 011 11 18102925 18103094 - 33 93 44 G A 18102997 672 98 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCTTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081449 18081450 18081450 exon -40 0.580645161290323 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCTTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 849 479 0.991471778913015 1 0.995735889456507 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.12697921068547 0.0235065587146878 0.989031779290218 0.920493004756428 NA 0.0752428847000788 NA FALSE NA 1 0.657 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA AGG G,A 8.236e-06 11:18081450 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 missense_variant 1.04054 0.92074 0.78591 0.719381 0.995084015088394 0 0.000128876571862682 FALSE 4.06197e-06 ENSE00001106577_014 ENSE00001106577 014 11 18102925 18103094 - 33 93 44 G C 18103008 675 87 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAAGAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081460 18081461 18081461 exon 43 0.462365591397849 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAAGAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 51 461 1 0.949986708805397 0.974993354402699 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.135507431772455 -0.0265067324799151 0.989031779290218 0.920493004756428 NA 0.0545003496462702 NA FALSE NA 0.994 0.396 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA TGT G,C 8.236e-06 11:18081461 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 missense_variant 0.874209 0.92059 0.76885 0.719381 0.917932202414219 0 0.000128876571862682 FALSE 4.06187e-06 ENSE00001106577_015 ENSE00001106577 015 11 18102925 18103094 - 33 93 44 T C 18103014 676 81 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGGGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081466 18081467 18081467 exon 37 0.397849462365591 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGGGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 101 1865 1 0.999382526271864 0.999691263135932 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.135507431772455 0.0228890849865516 0.989031779290218 0.920493004756428 NA 0.0791982583795035 NA FALSE NA 1 6.047 rs28930681 downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 rs28930681 1 C:0.0260 C:0.093 C:0.0101 NA C:0 C:0 C:0 C:0.0916 C:0.0007 CTC T,C 0.008895 11:18081467 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 missense_variant 3.299396 0.96832 0.95859 0.719381 0.996205318142268 0 0.000128876571862682 FALSE 0.00688504 ENSE00001106577_016 ENSE00001106577 016 11 18102925 18103094 - 33 93 44 A G 18103017 677 78 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGCTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081469 18081470 18081470 exon 34 0.365591397849462 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGCTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 1476 986 0.89129145573156 0.981685697392915 0.936488576562237 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.0267988875040153 0.00519225610760266 0.989031779290218 0.920493004756428 NA 0.015995571805809 NA FALSE NA 0.995 0.596 rs36125091 downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 rs36125091 1 G:0.0030 G:0.0083 G:0 NA G:0.002 G:0 G:0.002 G:0.0102 G:0 AAC A,G 0.0009966 11:18081470 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 missense_variant -0.115302 0.90419 0.50097 0.719381 0.433127412392155 0 0.000128876571862682 FALSE 0.000828655 ENSE00001106577_017 ENSE00001106577 017 11 18102925 18103094 - 33 93 44 T C 18103019 678 76 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCGGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081471 18081472 18081472 exon 32 0.344086021505376 GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCGGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 1760 1040 0.998361070567703 0.999559671202534 0.998960370885118 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.133868502340158 0.023066229917222 0.989031779290218 0.920493004756428 NA 0.07846736612869 NA FALSE NA 1 4.167 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA CTG T,C 8.236e-06 11:18081472 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 missense_variant 1.942543 0.95509 0.93408 0.719381 0.989135673287393 0 0.000128876571862682 FALSE 4.06194e-06 ENSE00001106577_019 ENSE00001106577 019 11 18102925 18103094 - 33 93 44 C T 18103063 680 32 GAAAAATTTTCCTTTTTTGACATTAAATCTTATTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081515 18081516 18081516 upstr_intron -13 -0.272727272727273 GAAAAATTTTCCTTTTTTGACATTAAATCTTATTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 1456 1753 1 0.999617184935144 0.999808592467572 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.135507431772455 0.0231237436498315 0.989031779290218 0.920493004756428 NA 0.0793155877111434 NA FALSE NA 0.228 -0.913 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA ACA C,T 8.236e-06 11:18081516 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 non_coding_transcript_exon_variant -0.021166 0.25621 0.01452 0.160075 0.449619037117511 0.0476178 0.000128876571862682 FALSE 4.0714e-06 ENSE00001106577_020 ENSE00001106577 020 11 18102925 18103094 - 33 93 44 T C 18103068 681 27 GAAAAATTTTCCTTTTTTGACATTAAGTCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081520 18081521 18081521 upstr_intron -18 -0.386363636363636 GAAAAATTTTCCTTTTTTGACATTAAGTCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 469 382 0.982547871307104 0.999171073168614 0.990859472237859 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.118055303079559 0.0226776318833019 0.989031779290218 0.920493004756428 NA 0.0703664674814306 NA FALSE NA 0.003 0.357 rs117915244 downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 rs117915244 1 C:0.0387 C:0 C:0 NA C:0.1022 C:0 C:0.093 C:0.0011 C:0.0001 ATT T,C 0.017 11:18081521 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 non_coding_transcript_exon_variant 0.070012 0.25928 0.16598 0.160075 0.641220380252816 0.0476178 0.000128876571862682 FALSE 0.0168101 ENSE00001106577_021 ENSE00001106577 021 11 18102925 18103094 - 33 93 44 G A 18103074 682 21 GAAAAATTTTCCTTTTTTGATATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 18081526 18081527 18081527 upstr_intron -24 -0.522727272727273 GAAAAATTTTCCTTTTTTGATATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG mutant NA NA NA NA NA 2055 783 0.998461576149412 0.806785872912945 0.902623724531179 0.978063558580436 1 0.864492568227545 0.976493441285312 NA NA 0.133969007921868 -0.169707568372367 0.989031779290218 0.920493004756428 NA -0.0178692802252497 NA FALSE NA 0 -0.547 . downstream_gene_variant MODIFIER SAAL1 HGNC 25158 ENST00000531216 1 NA TGT G,A 8.237e-06 11:18081527 SAAL1 HGNC Symbol protein_coding 36156 ENSG00000166788 ENSE00003680373 non_coding_transcript_exon_variant 0.370606 0.20711 0.01422 0.160075 0.627880362276193 0.0476178 0.000128876571862682 FALSE NA ENSE00001106577_BRK ENSE00001106577 BRK 11 18102925 18103094 - 33 93 44 A,G; T,T NA NA NA GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTTTGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGCCGAGTATGGGTAAATGTATATAGGTGGCCAAG 18081377 18081547 NA NA NA NA NA NA GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTTTGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGCCGAGTATGGGTAAATGTATATAGGTGGCCAAG GAAAAATTTTCCTTTTTTGACATTAAATCTTGTTGTTGTTTTAGGAGACGGTGGCTCAGGGAGTAAAGGAAGGCCAGTTGAGCAAACAGAAGTGTTCCTCTGCATTTCAAAACCTTCTTCCTTTCTATAGCCCTGTGGTGAGTATGGGTAAATGTATATAGGTGGCCAAG control 12 35 0 0 0 NA NA NA NA NA 0.978063558580436 1 0.864492568227545 0.976493441285312 -0.978063558580436 -1 NA NA 0.989031779290218 0.920493004756428 -0.989031779290218 NA NA NA TRUE NA NA NA NA NA SAAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAAL1 NA NA NA ENSG00000166788 ENSE00003680373 NA NA NA NA NA NA NA 0.000128876571862682 FALSE NA ENSE00001106623_000 ENSE00001106623 000 16 74508408 74508577 - 36 87 47 NA NA NA NA NA CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 NA NA NA NA NA NA CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG natural 49 35 0.836047560449422 0.938707930920137 0.887377745684779 3933 6589 0.942095489117778 0.91251364486365 0.927304566990714 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 0 0 0 0 0.887377745684779 0.927304566990714 0 0 0 FALSE FALSE NA NA NA NA NA GLG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLG1 NA NA NA ENSG00000090863 ENSE00003525368 NA NA NA NA NA NA NA 0.997711423693009 TRUE NA ENSE00001106623_001 ENSE00001106623 001 16 74508408 74508577 - 36 87 47 G A 74508424 2829 154 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTATTCATTGGAGGAGAGTG 74474509 74474679 74474525 74474526 74474526 downstr_intron 20 1.57142857142857 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTATTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 458 725 1 1 1 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.0874863551363498 0.887377745684779 0.927304566990714 NA 0.0726954330092859 NA FALSE NA 0 -0.302 . intron_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 13/26 1 NA AGT G,A 8.236e-06 16:74474526 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 non_coding_transcript_exon_variant -0.091907 0.12642 0.04448 0.295142 0.534788741482525 0.161781 0.997711423693009 TRUE 8.13087e-06 ENSE00001106623_002 ENSE00001106623 002 16 74508408 74508577 - 36 87 47 T A 74508450 2830 128 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGATTCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474551 74474552 74474552 exon -7 0.931034482758621 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGATTCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 32 97 1 1 1 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.0874863551363498 0.887377745684779 0.927304566990714 NA 0.0726954330092859 NA FALSE NA 0.985 0.256 . missense_variant&NMD_transcript_variant MODERATE GLG1 HGNC 4316 ENST00000562090 13/27 1 deleterious(0.02) probably_damaging(0.954) NA ATT T,A 8.236e-06 16:74474552 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 missense_variant 5.256722 0.97166 0.90331 0.706548 0.997636831925673 0 0.997711423693009 TRUE 4.06134e-06 ENSE00001106623_003 ENSE00001106623 003 16 74508408 74508577 - 36 87 47 T A 74508453 2831 125 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTTGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474554 74474555 74474555 exon -10 0.896551724137931 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTTGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 102 406 1 0.993724860345248 0.996862430172624 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.0812112154815978 0.887377745684779 0.927304566990714 NA 0.0695578631819099 NA FALSE NA 0.944 0.053 . missense_variant&NMD_transcript_variant MODERATE GLG1 HGNC 4316 ENST00000562090 13/27 1 deleterious(0.04) benign(0.061) NA CTA T,A 8.236e-06 16:74474555 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 missense_variant 2.479676 0.97762 0.88289 0.706548 0.992158033956234 0 0.997711423693009 TRUE 8.12255e-06 ENSE00001106623_004 ENSE00001106623 004 16 74508408 74508577 - 36 87 47 A G 74508459 2832 119 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACCGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474560 74474561 74474561 exon -16 0.827586206896552 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACCGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 3273 621 0.969130373457 0.996307580054825 0.982718976755913 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0270348843392219 0.0837939351911751 0.887377745684779 0.927304566990714 NA 0.0554144097651985 NA FALSE NA 0.007 -1.054 . synonymous_variant&NMD_transcript_variant LOW GLG1 HGNC 4316 ENST00000562090 13/27 rs200390420 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 CAG A,G 1.647e-05 16:74474561 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 synonymous_variant 0.594302 0.47355 0.06552 0.706548 0.634340549312767 0 0.997711423693009 TRUE 3.24884e-05 ENSE00001106623_005 ENSE00001106623 005 16 74508408 74508577 - 36 87 47 C A 74508469 2833 109 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGTCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474570 74474571 74474571 exon -26 0.71264367816092 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGTCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 108 470 1 0.932480504693684 0.966240252346842 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.019966859830034 0.887377745684779 0.927304566990714 NA 0.038935685356128 NA FALSE NA 1 5.799 . missense_variant&NMD_transcript_variant MODERATE GLG1 HGNC 4316 ENST00000562090 13/27 1 deleterious(0.01) possibly_damaging(0.69) NA GCC C,A 2.471e-05 16:74474571 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 missense_variant 5.218024 0.99199 0.98718 0.706548 0.982923782789106 0 0.997711423693009 TRUE 2.43665e-05 ENSE00001106623_006 ENSE00001106623 006 16 74508408 74508577 - 36 87 47 A G 74508471 2834 107 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTCGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474572 74474573 74474573 exon -28 0.689655172413793 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTCGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 215 232 1 0.97411133512115 0.987055667560575 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.0615976902575003 0.887377745684779 0.927304566990714 NA 0.0597511005698611 NA FALSE NA 0.82 -0.028 . synonymous_variant&NMD_transcript_variant LOW GLG1 HGNC 4316 ENST00000562090 13/27 1 NA CAA A,G 8.236e-06 16:74474573 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 synonymous_variant 1.126897 0.87893 0.57533 0.706548 0.73873687961799 0 0.997711423693009 TRUE 4.06111e-06 ENSE00001106623_008 ENSE00001106623 008 16 74508408 74508577 - 36 87 47 A G 74508475 2836 103 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATACAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474576 74474577 74474577 exon -32 0.64367816091954 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATACAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 191 163 0.820020153679855 0.98236641942855 0.901193286554202 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA -0.122075335437923 0.0698527745648996 0.887377745684779 0.927304566990714 NA -0.026111280436512 NA FALSE NA 1 7.279 . missense_variant&NMD_transcript_variant MODERATE GLG1 HGNC 4316 ENST00000562090 13/27 rs368450618 1 tolerated(0.14) benign(0.138) NA G:0 G:0.0001 TAT A,G 8.236e-06 16:74474577 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 missense_variant 3.27603 0.9942 0.99221 0.706548 0.99460185495963 0 0.997711423693009 TRUE 4.06105e-06 ENSE00001106623_009 ENSE00001106623 009 16 74508408 74508577 - 36 87 47 T C 74508478 2837 100 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGGTATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474579 74474580 74474580 exon -35 0.609195402298851 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGGTATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 100 301 1 1 1 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.0874863551363498 0.887377745684779 0.927304566990714 NA 0.0726954330092859 NA FALSE NA 1 7.824 . missense_variant&NMD_transcript_variant MODERATE GLG1 HGNC 4316 ENST00000562090 13/27 1 tolerated(0.28) benign(0.205) NA ATC T,C 8.236e-06 16:74474580 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 missense_variant 3.538711 0.99372 0.9922 0.706548 0.99204927653713 0 0.997711423693009 TRUE 4.06114e-06 ENSE00001106623_013 ENSE00001106623 013 16 74508408 74508577 - 36 87 47 C G 74508494 2841 84 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGCTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474595 74474596 74474596 exon 37 0.425287356321839 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGCTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 849 1418 1 0.994084250962426 0.997042125481213 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.0815706060987762 0.887377745684779 0.927304566990714 NA 0.0697375584904991 NA FALSE NA 1 3.811 NA NA NA GLG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:74474596 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 missense_variant 3.102308 0.98896 0.97542 0.706548 0.991278452105818 0 0.997711423693009 TRUE 1.62446e-05 ENSE00001106623_014 ENSE00001106623 014 16 74508408 74508577 - 36 87 47 A G 74508497 2842 81 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACCTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474598 74474599 74474599 exon 34 0.390804597701149 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACCTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 191 508 1 0.987338512221215 0.993669256110608 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.0748248673575648 0.887377745684779 0.927304566990714 NA 0.0663646891198933 NA FALSE NA 1 2.328 . synonymous_variant&NMD_transcript_variant LOW GLG1 HGNC 4316 ENST00000562090 13/27 1 NA AAG A,G 8.236e-06 16:74474599 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 synonymous_variant 0.763161 0.97246 0.751 0.706548 0.75391827201052 0 0.997711423693009 TRUE 1.21841e-05 ENSE00001106623_016 ENSE00001106623 016 16 74508408 74508577 - 36 87 47 T A 74508523 2844 55 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGTGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474624 74474625 74474625 exon 8 0.0919540229885057 CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGTGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 567 215 1 0.999822795453915 0.999911397726957 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 0.0873091505902645 0.887377745684779 0.927304566990714 NA 0.0726068307362432 NA FALSE NA 1 7.824 rs142760132 missense_variant&NMD_transcript_variant MODERATE GLG1 HGNC 4316 ENST00000562090 13/27 rs142760132 1 tolerated(0.23) benign(0.086) NA A:0 A:0.0002 CTC T,A 2.471e-05 16:74474625 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 missense_variant 3.82547 0.9945 0.99386 0.706548 0.988051663236747 0 0.997711423693009 TRUE 1.21866e-05 ENSE00001106623_017 ENSE00001106623 017 16 74508408 74508577 - 36 87 47 C T 74508557 2845 21 CATGTATGTGACTGATAAATACCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 74474658 74474659 74474659 upstr_intron -27 -0.553191489361702 CATGTATGTGACTGATAAATACCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG mutant NA NA NA NA NA 985 503 1 0.888491913287463 0.944245956643732 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA 0.0579045108822219 -0.0240217315761869 0.887377745684779 0.927304566990714 NA 0.0169413896530175 NA FALSE NA 0 0.186 . intron_variant&NMD_transcript_variant MODIFIER GLG1 HGNC 4316 ENST00000562090 12/26 rs568177338 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCA C,T 8.236e-06 16:74474659 GLG1 HGNC Symbol protein_coding 159717 ENSG00000090863 ENSE00003525368 intron_variant 1.124592 0.23716 0.09831 0.099367 0.798334506872047 0.129294 0.997711423693009 TRUE 4.47296e-05 ENSE00001106623_BRK ENSE00001106623 BRK 16 74508408 74508577 - 36 87 47 A,G; T,T NA NA NA CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCTTGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGCCAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG 74474509 74474679 NA NA NA NA NA NA CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCTTGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGCCAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG CATGTATGTGACTGATAAATGCCAGTGGCTTGCCTTTATATTTGCAGGAGCTGGAGTGCCTTCAGGACCATCTGGATGACTTGGTGGTGGAGTGTAGAGATATAGTTGGCAACCTCACTGAGTTAGAATCAGAGGTAAGTGGTATGCAGCTTACTCATTGGAGGAGAGTG control NA NA NA NA NA 298 1105 0 0 0 0.836047560449422 0.938707930920137 0.942095489117778 0.91251364486365 NA NA -0.942095489117778 -0.91251364486365 0.887377745684779 0.927304566990714 NA -0.927304566990714 NA TRUE NA NA NA NA NA NA GLG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLG1 NA NA NA ENSG00000090863 ENSE00003525368 NA NA NA NA NA NA NA 0.997711423693009 TRUE NA ENSE00001106788_000 ENSE00001106788 000 16 21071552 21071721 - 33 93 44 NA NA NA NA NA TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 NA NA NA NA NA NA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA natural 140 88 0.99710136332703 0.994482213221343 0.995791788274186 1691 3553 0.942391880056617 0.988430583608493 0.965411231832555 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 0 0 0 0 0.995791788274186 0.965411231832555 0 0 0 FALSE FALSE NA NA NA NA NA DNAH3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAH3 NA NA NA ENSG00000158486 ENSE00003552351 NA NA NA NA NA NA NA 9.63057947571572e-51 FALSE NA ENSE00001106788_001 ENSE00001106788 001 16 21071552 21071721 - 33 93 44 G C 21071563 1275 159 TGTCCTGGCATCTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060241 21060242 21060242 downstr_intron 22 1.6875 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACAGATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant 87 175 0.895470107938131 0.782954462759817 0.839212285348974 15 140 0.988482367383638 1 0.994241183691819 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 -0.101631255388899 -0.211527750461526 0.0460904873270201 0.0115694163915067 0.995791788274186 0.965411231832555 -0.156579502925213 0.0288299518592634 0.185409454784476 FALSE FALSE 0 -0.85 . intron_variant MODIFIER DNAH3 HGNC 2949 ENST00000261383 26/61 1 NA TGT G,C 8.236e-06 16:21060242 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 intron_variant -0.315508 0.21214 0.09864 0.053691 0.454255999125181 0.0661953 9.63057947571572e-51 FALSE 4.07442e-06 ENSE00001106788_002 ENSE00001106788 002 16 21071552 21071721 - 33 93 44 C T 21071568 1276 154 TGTCCTGGCATGTGTATCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060246 21060247 21060247 downstr_intron 17 1.53125 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGATACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 55 91 0.987378491155726 0.999580694424623 0.993479592790174 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0449866110991082 0.0111501108161295 0.995791788274186 0.965411231832555 NA 0.0280683609576188 NA FALSE NA 0 -0.718 . intron_variant MODIFIER DNAH3 HGNC 2949 ENST00000261383 26/61 rs199815392 1 T:0.0010 T:0 T:0 NA T:0.005 T:0 T:0 T:0.0009 T:0 ACC C,T 0.0001812 16:21060247 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 intron_variant 0.377568 0.1811 0.0439 0.053691 0.575574689704362 0.0661953 9.63057947571572e-51 FALSE 0.000118103 ENSE00001106788_003 ENSE00001106788 003 16 21071552 21071721 - 33 93 44 C T 21071571 1277 151 TGTCCTGGCATGTGTACCCTGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060249 21060250 21060250 downstr_intron 14 1.4375 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCAGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant 34 117 0.989816985627957 0.993080739501723 0.99144886256484 NA NA NA NA NA 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 -0.00728437769907297 -0.00140147371961918 NA NA 0.995791788274186 0.965411231832555 -0.00434292570934608 NA NA NA FALSE 0 -1.038 . intron_variant MODIFIER DNAH3 HGNC 2949 ENST00000261383 26/61 1 NA CCG C,T 4.942e-05 16:21060250 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 intron_variant 0.257772 0.20976 0.0255 0.053691 0.568215389742639 0.0655032 9.63057947571572e-51 FALSE 3.66488e-05 ENSE00001106788_004 ENSE00001106788 004 16 21071552 21071721 - 33 93 44 T C 21071577 1278 145 TGTCCTGGCATGTGTACCCCGGTTCCTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060255 21060256 21060256 downstr_intron 8 1.25 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAGGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 696 259 0.818836265503442 1 0.909418132751721 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA -0.123555614553175 0.0115694163915067 0.995791788274186 0.965411231832555 NA -0.0559930990808342 NA FALSE NA 0.006 1.135 rs74012107 splice_region_variant&intron_variant LOW DNAH3 HGNC 2949 ENST00000261383 26/61 rs74012107 1 C:0.0010 C:0.0038 C:0 NA C:0 C:0 C:0 C:0.0043 C:0 CTT T,C 0.0003459 16:21060256 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 splice_region_variant -0.485799 0.29357 0.06232 0.053691 0.667066761430046 0.0941125 9.63057947571572e-51 FALSE 0.000288944 ENSE00001106788_005 ENSE00001106788 005 16 21071552 21071721 - 33 93 44 C T 21071585 1279 137 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACTTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060263 21060264 21060264 exon -1 1 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAAGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant 269 182 0.134138883987707 0.107634475093258 0.120886679540482 364 199 0.11675421709685 0.00346396508717684 0.0601090910920133 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 -0.862962479339324 -0.886847738128085 -0.825637662959768 -0.984966618521317 0.995791788274186 0.965411231832555 -0.874905108733704 -0.905302140740542 0.0303970320068379 TRUE TRUE 1 4.277 . splice_region_variant&synonymous_variant LOW DNAH3 HGNC 2949 ENST00000261383 26/62 1 NA CCT C,T 1.647e-05 16:21060264 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 splice_region_variant 2.409437 0.97906 0.95988 0.497415 0.893559609065706 0 9.63057947571572e-51 FALSE 1.2206e-05 ENSE00001106788_006 ENSE00001106788 006 16 21071552 21071721 - 33 93 44 A G 21071589 1280 133 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGGCATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060267 21060268 21060268 exon -5 0.956989247311828 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGCCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant 45 49 1 0.999785179033319 0.999892589516659 219 28 0.740809445701729 0.931716936604749 0.836263191153239 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 0.00289863667296986 0.0053029658119762 -0.201582434354889 -0.0567136470037443 0.995791788274186 0.965411231832555 0.00410080124247303 -0.129148040679317 0.13324884192179 FALSE FALSE 0 0.194 . missense_variant MODERATE DNAH3 HGNC 2949 ENST00000261383 26/62 1 tolerated(1) benign(0.002) NA GAC A,G 1.647e-05 16:21060268 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 missense_variant -0.007832 0.26967 0.08959 0.497415 0.827452338105248 0 9.63057947571572e-51 FALSE 2.44067e-05 ENSE00001106788_008 ENSE00001106788 008 16 21071552 21071721 - 33 93 44 C A 21071603 1282 119 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATACCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060281 21060282 21060282 exon -19 0.806451612903226 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGTATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 15 64 1 0.999403137188643 0.999701568594322 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0576081199433826 0.0109725535801497 0.995791788274186 0.965411231832555 NA 0.0342903367617661 NA FALSE NA 0.986 0.331 . synonymous_variant LOW DNAH3 HGNC 2949 ENST00000261383 26/62 1 NA TCC C,A 8.236e-06 16:21060282 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 synonymous_variant 2.252603 0.93394 0.85372 0.525926 0.79911441232587 0 9.63057947571572e-51 FALSE 4.06633e-06 ENSE00001106788_010 ENSE00001106788 010 16 21071552 21071721 - 33 93 44 A G 21071613 1284 109 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAGTGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060291 21060292 21060292 exon -29 0.698924731182796 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCACTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 880 906 1 0.995283236197377 0.997641618098688 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0576081199433826 0.00685265258888357 0.995791788274186 0.965411231832555 NA 0.0322303862661331 NA FALSE NA 1 7.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:21060292 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 missense_variant 3.708233 0.97472 0.95912 0.525926 0.994797722119122 0 9.63057947571572e-51 FALSE 5.69332e-05 ENSE00001106788_011 ENSE00001106788 011 16 21071552 21071721 - 33 93 44 A C 21071613 1285 109 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCACTGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060291 21060292 21060292 exon -29 0.698924731182796 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCAGTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 75 135 1 1 1 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0576081199433826 0.0115694163915067 0.995791788274186 0.965411231832555 NA 0.0345887681674446 NA FALSE NA 1 7.35 NA NA NA DNAH3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAH3 NA NA NA ENSG00000158486 ENSE00003552351 missense_variant 4.330223 0.97499 0.98287 0.525926 0.991502611088834 0 9.63057947571572e-51 FALSE 1.62666e-05 ENSE00001106788_013 ENSE00001106788 013 16 21071552 21071721 - 33 93 44 C T 21071622 1287 100 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTTGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060300 21060301 21060301 exon -38 0.602150537634409 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCAAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 57 66 1 1 1 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0576081199433826 0.0115694163915067 0.995791788274186 0.965411231832555 NA 0.0345887681674446 NA FALSE NA 0.004 0.942 rs146434817 missense_variant MODERATE DNAH3 HGNC 2949 ENST00000261383 26/62 rs146434817 1 tolerated(0.07) benign(0.081) NA T:0 T:0.0001 TCG C,T 4.942e-05 16:21060301 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 missense_variant 3.55779 0.87646 0.46306 0.525926 0.997974117973811 0 9.63057947571572e-51 FALSE 6.50724e-05 ENSE00001106788_015 ENSE00001106788 015 16 21071552 21071721 - 33 93 44 A G 21071625 1289 97 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCGTACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060303 21060304 21060304 exon -41 0.56989247311828 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTACGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 619 82 1 1 1 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0576081199433826 0.0115694163915067 0.995791788274186 0.965411231832555 NA 0.0345887681674446 NA FALSE NA 0.936 7.455 . missense_variant MODERATE DNAH3 HGNC 2949 ENST00000261383 26/62 1 deleterious(0.01) benign(0.047) NA CAT A,G 8.236e-06 16:21060304 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 missense_variant 3.013565 0.90272 0.96603 0.525926 0.982454378349843 0 9.63057947571572e-51 FALSE NA ENSE00001106788_017 ENSE00001106788 017 16 21071552 21071721 - 33 93 44 C T 21071650 1291 72 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCATCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060328 21060329 21060329 exon 28 0.301075268817204 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGATGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 958 217 0.999957034601187 1 0.999978517300594 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0575651545445699 0.0115694163915067 0.995791788274186 0.965411231832555 NA 0.0345672854680383 NA FALSE NA 1 5.999 . missense_variant MODERATE DNAH3 HGNC 2949 ENST00000261383 26/62 1 deleterious(0) probably_damaging(0.998) NA ACC C,T 8.236e-06 16:21060329 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 missense_variant 6.662351 0.97163 0.97232 0.525926 0.999152472446239 0 9.63057947571572e-51 FALSE 4.06918e-06 ENSE00001106788_018 ENSE00001106788 018 16 21071552 21071721 - 33 93 44 T G 21071666 1292 56 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTGTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060344 21060345 21060345 exon 12 0.129032258064516 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGACAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant 15 12 1 1 1 NA NA NA NA NA 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 0.00289863667296986 0.00551778677865744 NA NA 0.995791788274186 0.965411231832555 0.00420821172581365 NA NA NA FALSE 1 0.659 rs140778061 missense_variant MODERATE DNAH3 HGNC 2949 ENST00000261383 26/62 rs140778061 1 deleterious(0) probably_damaging(1) G:0.0016 G:0.0061 G:0 NA G:0 G:0 G:0 G:0.0027 G:0 TTT T,G 0.00028 16:21060345 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 missense_variant 5.095916 0.93415 0.90953 0.525926 0.997518120653196 0 9.63057947571572e-51 FALSE 0.000289048 ENSE00001106788_019 ENSE00001106788 019 16 21071552 21071721 - 33 93 44 C T 21071669 1293 53 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCTACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060347 21060348 21060348 exon 9 0.0967741935483871 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTAGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 191 664 1 0.813008699980345 0.906504349990172 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0576081199433826 -0.175421883628149 0.995791788274186 0.965411231832555 NA -0.058906881842383 NA FALSE NA 0.99 0.313 . synonymous_variant LOW DNAH3 HGNC 2949 ENST00000261383 26/62 1 NA CCA C,T 1.647e-05 16:21060348 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 synonymous_variant 1.069259 0.90107 0.74501 0.525926 0.614847316193396 0 9.63057947571572e-51 FALSE 4.07196e-06 ENSE00001106788_020 ENSE00001106788 020 16 21071552 21071721 - 33 93 44 G A 21071675 1294 47 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATACCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060353 21060354 21060354 exon 3 0.032258064516129 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGTATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant 25 18 0.996280276992794 0.998080447231383 0.997180362112088 NA NA NA NA NA 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 -0.000821086334236165 0.00359823401004 NA NA 0.995791788274186 0.965411231832555 0.00138857383790192 NA NA NA FALSE 1 0.664 . splice_region_variant&synonymous_variant LOW DNAH3 HGNC 2949 ENST00000261383 26/62 rs200054163 1 A:0.0010 A:0 A:0 NA A:0.005 A:0 A:0 TGC G,A 0.0002059 16:21060354 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 splice_region_variant 1.272689 0.93069 0.85463 0.525926 0.78277775468248 0 9.63057947571572e-51 FALSE 0.000228217 ENSE00001106788_021 ENSE00001106788 021 16 21071552 21071721 - 33 93 44 C T 21071676 1295 46 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGTCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060354 21060355 21060355 exon 2 0.021505376344086 GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGACATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 170 117 0.990257580755469 1 0.995128790377735 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.047865700698852 0.0115694163915067 0.995791788274186 0.965411231832555 NA 0.0297175585451793 NA FALSE NA 1 7.422 . missense_variant&splice_region_variant MODERATE DNAH3 HGNC 2949 ENST00000261383 26/62 1 deleterious(0) probably_damaging(1) NA GCC C,T 8.236e-06 16:21060355 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 missense_variant 6.300025 0.97994 0.98443 0.525926 0.998281235974305 0 9.63057947571572e-51 FALSE 4.07574e-06 ENSE00001106788_023 ENSE00001106788 023 16 21071552 21071721 - 33 93 44 G A 21071697 1297 25 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAAAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 21060375 21060376 21060376 upstr_intron -20 -0.431818181818182 GGCTTTGGTTGACTGCTGCACCCTTTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 413 645 0.9913536075407 0.999050331945094 0.995201969742897 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0489617274840822 0.0106197483366005 0.995791788274186 0.965411231832555 NA 0.0297907379103414 NA FALSE NA 0.004 0.263 . intron_variant MODIFIER DNAH3 HGNC 2949 ENST00000261383 25/61 1 NA AGA G,A 8.236e-06 16:21060376 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 intron_variant 0.658139 0.2713 0.10497 0.055872 0.700109017844034 0.0655032 9.63057947571572e-51 FALSE 4.08995e-06 ENSE00001106788_024 ENSE00001106788 024 16 21071552 21071721 - 33 93 44 C T 21071704 1298 18 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGTAGCAGTCAACCAAAGCC 21060230 21060400 21060382 21060383 21060383 upstr_intron -27 -0.590909090909091 GGCTTTGGTTGACTGCTACACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 20 114 0.99792397139491 0.998992174066779 0.998458072730845 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.055532091338293 0.010561590458286 0.995791788274186 0.965411231832555 NA 0.0330468408982895 NA FALSE NA 0 0.149 . intron_variant MODIFIER DNAH3 HGNC 2949 ENST00000261383 25/61 1 NA GCA C,T 1.647e-05 16:21060383 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 intron_variant 0.099004 0.21614 0.03968 0.055872 0.368449800077812 0.0655032 9.63057947571572e-51 FALSE 4.10435e-06 ENSE00001106788_025 ENSE00001106788 025 16 21071552 21071721 - 33 93 44 C T 21071707 1299 15 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGTAGTCAACCAAAGCC 21060230 21060400 21060385 21060386 21060386 upstr_intron -30 -0.659090909090909 GGCTTTGGTTGACTACTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 233 294 1 1 1 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0576081199433826 0.0115694163915067 0.995791788274186 0.965411231832555 NA 0.0345887681674446 NA FALSE NA 0 -0.817 . intron_variant MODIFIER DNAH3 HGNC 2949 ENST00000261383 25/61 rs373015535 1 NA T:0.0002 T:0 GCA C,T 8.236e-06 16:21060386 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 intron_variant -0.009159 0.21957 0.04399 0.055872 0.466100424294226 0.0655032 9.63057947571572e-51 FALSE NA ENSE00001106788_026 ENSE00001106788 026 16 21071552 21071721 - 33 93 44 C G 21071711 1300 11 TGTCCTGGCATGTGTACCCCGGTTCTTGTTTACCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCCTATGGAGCAAGACAGAGAGAGGGTGCAGCAGTGAACCAAAGCC 21060230 21060400 21060389 21060390 21060390 upstr_intron -34 -0.75 GGCTTTGGTTCACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA mutant NA NA NA NA NA 624 377 1 0.997474588847475 0.998737294423738 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 NA NA 0.0576081199433826 0.00904400523898208 0.995791788274186 0.965411231832555 NA 0.0333260625911823 NA FALSE NA 0 -0.413 . intron_variant MODIFIER DNAH3 HGNC 2949 ENST00000261383 25/61 1 NA TCA C,G 8.236e-06 16:21060390 DNAH3 HGNC Symbol protein_coding 226330 ENSG00000158486 ENSE00003552351 intron_variant 0.187843 0.22073 0.07308 0.055872 0.638734817460668 0.0674714 9.63057947571572e-51 FALSE 4.11509e-06 ENSE00001106788_BRK ENSE00001106788 BRK 16 21071552 21071721 - 33 93 44 A,G; T,T NA NA NA TGTCCTGGCATGTGTACCCCGGTTCTTGTTTGGCTTGACATATGCTTCAATCCCAAGTCCAATGACTTCTCGCATACTGGCCAGCATCATCTGCTCCACCTGCTGGAGCCACTTTTCCACCATGCCAAATGGAGCAAGACAGAGAGAGGGTGCAGCAGTCAACCAAAGCC 21060230 21060400 NA NA NA NA NA NA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATTTGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGCCAAACAAGAACCGGGGTACACATGCCAGGACA GGCTTTGGTTGACTGCTGCACCCTCTCTCTGTCTTGCTCCATAGGGCATGGTGGAAAAGTGGCTCCAGCAGGTGGAGCAGATGATGCTGGCCAGTATGCGAGAAGTCATTGGACTTGGGATTGAAGCATATGTCAAGGTAAACAAGAACCGGGGTACACATGCCAGGACA control 1132 419 0.00116385912715175 0 0.000581929563575874 NA NA NA NA NA 0.99710136332703 0.994482213221343 0.942391880056617 0.988430583608493 -0.995937504199878 -0.994482213221343 NA NA 0.995791788274186 0.965411231832555 -0.99520985871061 NA NA NA TRUE NA NA NA NA NA DNAH3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAH3 NA NA NA ENSG00000158486 ENSE00003552351 NA NA NA NA NA NA NA 9.63057947571572e-51 FALSE NA ENSE00001107074_000 ENSE00001107074 000 11 20099050 20099219 + 48 84 38 NA NA NA NA NA TCCAAGTAGGGAGGGTTAAAGTATCCTTTCTGCCTTACCTTCTGCTCAGCTGTCATGGTCAGACTCTGGAGCCTGATTGTCATGTTACCAAGACTCTGTTCAAAGGCTGCCACAAGGTGAGCCTGGAGGGGAAGACACAACCTCAGTTATATTACCTTGCAAGGCAAGAG 20077503 20077673 NA NA NA NA NA NA CTCTTGCCTTGCAAGGTAATATAACTGAGGTTGTGTCTTCCCCTCCAGGCTCACCTTGTGGCAGCCTTTGAACAGAGTCTTGGTAACATGACAATCAGGCTCCAGAGTCTGACCATGACAGCTGAGCAGAAGGTAAGGCAGAAAGGATACTTTAACCCTCCCTACTTGGA CTCTTGCCTTGCAAGGTAATATAACTGAGGTTGTGTCTTCCCCTCCAGGCTCACCTTGTGGCAGCCTTTGAACAGAGTCTTGGTAACATGACAATCAGGCTCCAGAGTCTGACCATGACAGCTGAGCAGAAGGTAAGGCAGAAAGGATACTTTAACCCTCCCTACTTGGA natural NA NA NA NA NA 293 378 0.802328034955156 0.998680332370206 0.900504183662681 NA NA 0.802328034955156 0.998680332370206 NA NA 0 0 NA 0.900504183662681 NA 0 NA FALSE NA NA NA NA NA NA NAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAV2 NA NA NA ENSG00000166833 ENSE00001107074 NA NA NA NA NA NA NA 0.997517125070282 TRUE NA ENSE00001107074_006 ENSE00001107074 006 11 20099050 20099219 + 48 84 38 C T 20099092 741 43 CTCTTGCCTTGCAAGGTAATATAACTGAGGTTGTGTCTTCCCTTCCAGGCTCACCTTGTGGCAGCCTTTGAACAGAGTCTTGGTAACATGACAATCAGGCTCCAGAGTCTGACCATGACAGCTGAGCAGAAGGTAAGGCAGAAAGGATACTTTAACCCTCCCTACTTGGA 20077503 20077673 20077545 20077546 20077546 upstr_intron -6 -0.104166666666667 CTCTTGCCTTGCAAGGTAATATAACTGAGGTTGTGTCTTCCCTTCCAGGCTCACCTTGTGGCAGCCTTTGAACAGAGTCTTGGTAACATGACAATCAGGCTCCAGAGTCTGACCATGACAGCTGAGCAGAAGGTAAGGCAGAAAGGATACTTTAACCCTCCCTACTTGGA CTCTTGCCTTGCAAGGTAATATAACTGAGGTTGTGTCTTCCCCTCCAGGCTCACCTTGTGGCAGCCTTTGAACAGAGTCTTGGTAACATGACAATCAGGCTCCAGAGTCTGACCATGACAGCTGAGCAGAAGGTAAGGCAGAAAGGATACTTTAACCCTCCCTACTTGGA mutant NA NA NA NA NA 70 285 1 1 1 NA NA 0.802328034955156 0.998680332370206 NA NA 0.197671965044844 0.00131966762979363 NA 0.900504183662681 NA 0.0994958163373189 NA FALSE NA 0 -0.362 . splice_region_variant&intron_variant LOW NAV2 HGNC 15997 ENST00000360655 22/37 1 NA CCT C,T 1.647e-05 11:20077546 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107074 splice_region_variant 1.398347 0.26714 0.05337 0.099367 0.57606138639062 0.181555 0.997517125070282 TRUE 8.13134e-06 ENSE00001107074_009 ENSE00001107074 009 11 20099050 20099219 + 48 84 38 G C 20099119 744 70 TCCAAGTAGGGAGGGTTAAAGTATCCTTTCTGCCTTACCTTCTGCTCAGCTGTCATGGTCAGACTCTGGAGCCTGATTGTCATGTTACCAAGACTCTGTTGAAAGGCTGCCACAAGGTGAGCCTGGAGGGGAAGACACAACCTCAGTTATATTACCTTGCAAGGCAAGAG 20077503 20077673 20077572 20077573 20077573 exon 22 0.261904761904762 CTCTTGCCTTGCAAGGTAATATAACTGAGGTTGTGTCTTCCCCTCCAGGCTCACCTTGTGGCAGCCTTTCAACAGAGTCTTGGTAACATGACAATCAGGCTCCAGAGTCTGACCATGACAGCTGAGCAGAAGGTAAGGCAGAAAGGATACTTTAACCCTCCCTACTTGGA CTCTTGCCTTGCAAGGTAATATAACTGAGGTTGTGTCTTCCCCTCCAGGCTCACCTTGTGGCAGCCTTTGAACAGAGTCTTGGTAACATGACAATCAGGCTCCAGAGTCTGACCATGACAGCTGAGCAGAAGGTAAGGCAGAAAGGATACTTTAACCCTCCCTACTTGGA mutant NA NA NA NA NA 130 37 1 1 1 NA NA 0.802328034955156 0.998680332370206 NA NA 0.197671965044844 0.00131966762979363 NA 0.900504183662681 NA 0.0994958163373189 NA FALSE NA 1 9.789 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000360655 23/38 1 deleterious(0) probably_damaging(0.999) NA TGA G,C 1.647e-05 11:20077573 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107074 missense_variant 6.580429 0.99567 0.99524 0.706548 0.998049683180669 0 0.997517125070282 TRUE 1.21958e-05 ENSE00001107078_000 ENSE00001107078 000 11 20089817 20089986 + 53 75 42 NA NA NA NA NA GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCTGGGAGGCATCCAGTTCCCGCCGCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 NA NA NA NA NA NA CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC natural 50 34 0.982510328296397 0.996321568366645 0.989415948331521 561 665 0.96363598824426 0.992716783131813 0.978176385688037 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 0 0 0 0 0.989415948331521 0.978176385688037 0 0 0 FALSE FALSE NA NA NA NA NA NAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAV2 NA NA NA ENSG00000166833 ENSE00001107078 NA NA NA NA NA NA NA 0.997517125070282 TRUE NA ENSE00001107078_003 ENSE00001107078 003 11 20089817 20089986 + 53 75 42 A G 20089831 709 15 GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCTGGGAGGCATCCAGTTCCCGCCGCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGCCCATTTCCAAGGTG 20068270 20068440 20068284 20068285 20068285 upstr_intron -39 -0.716981132075472 CACCTTGGAAATGGGCCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC mutant NA NA NA NA NA 67 74 1 0.974321844898553 0.987160922449277 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA 0.0363640117557397 -0.0183949382332601 0.989415948331521 0.978176385688037 NA 0.00898453676123978 NA FALSE NA 0.035 0.364 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000360655 21/37 1 NA GAC A,G 8.236e-06 11:20068285 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107078 intron_variant 0.441929 0.17327 0.0423 0.062308 0.609315990254737 0.0851739 0.997517125070282 TRUE 8.13015e-06 ENSE00001107078_006 ENSE00001107078 006 11 20089817 20089986 + 53 75 42 G A 20089840 712 24 GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCTGGGAGGCATCCAGTTCCCGCCGCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGTTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 20068293 20068294 20068294 upstr_intron -30 -0.547169811320755 CACCTTGGAAATGGACCCCCAAAACATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC mutant NA NA NA NA NA 29 59 1 1 1 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA 0.0363640117557397 0.00728321686818656 0.989415948331521 0.978176385688037 NA 0.0218236143119631 NA FALSE NA 0.001 -0.014 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000360655 21/37 1 NA AGC G,A 1.647e-05 11:20068294 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107078 intron_variant 0.931046 0.18761 0.09559 0.062308 0.770172278293882 0.0851739 0.997517125070282 TRUE 8.13015e-06 ENSE00001107078_013 ENSE00001107078 013 11 20089817 20089986 + 53 75 42 C A 20089882 719 66 GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCTGGGAGGCATCCAGTTCCCGCCTCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 20068335 20068336 20068336 exon 13 0.173333333333333 CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGAGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC mutant NA NA NA NA NA 36 197 0.896494243677558 0.999196346514993 0.947845295096275 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA -0.0671417445667025 0.00647956338317934 0.989415948331521 0.978176385688037 NA -0.0303310905917616 NA FALSE NA 0.847 1.225 NA NA NA NAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:20068336 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107078 synonymous_variant 2.908209 0.95612 0.80215 0.706548 0.597585561727965 0 0.997517125070282 TRUE 1.22012e-05 ENSE00001107078_014 ENSE00001107078 014 11 20089817 20089986 + 53 75 42 G A 20089884 720 68 GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCTGGGAGGCATCCAGTTCCCGTCGCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 20068337 20068338 20068338 exon 15 0.2 CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGACGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC mutant NA NA NA NA NA 203 125 1 1 1 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA 0.0363640117557397 0.00728321686818656 0.989415948331521 0.978176385688037 NA 0.0218236143119631 NA FALSE NA 0.991 0.15 . synonymous_variant LOW NAV2 HGNC 15997 ENST00000360655 22/38 1 NA GGC G,A 8.236e-06 11:20068338 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107078 synonymous_variant 1.567875 0.96137 0.79093 0.706548 0.634166261574917 0 0.997517125070282 TRUE 4.06742e-06 ENSE00001107078_015 ENSE00001107078 015 11 20089817 20089986 + 53 75 42 C T 20089885 721 69 GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCTGGGAGGCATCCAGTTCCCACCGCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 20068338 20068339 20068339 exon 16 0.213333333333333 CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGTGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC mutant NA NA NA NA NA 50 105 1 1 1 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA 0.0363640117557397 0.00728321686818656 0.989415948331521 0.978176385688037 NA 0.0218236143119631 NA FALSE NA 1 2.862 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000360655 22/38 1 deleterious(0) probably_damaging(0.994) NA GCG C,T 8.236e-06 11:20068339 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107078 missense_variant 8.467849 0.9786 0.91211 0.706548 0.99921892320775 0 0.997517125070282 TRUE 8.13829e-06 ENSE00001107078_018 ENSE00001107078 018 11 20089817 20089986 + 53 75 42 A T 20089904 724 88 GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCAGGGAGGCATCCAGTTCCCGCCGCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 20068357 20068358 20068358 exon 35 0.466666666666667 CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCTGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC mutant NA NA NA NA NA 19 17 1 0.8 0.9 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA 0.0363640117557397 -0.192716783131813 0.989415948331521 0.978176385688037 NA -0.0781763856880369 NA FALSE NA 1 8.598 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000360655 22/38 1 deleterious(0) probably_damaging(0.951) NA CAG A,T 1.647e-05 11:20068358 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107078 missense_variant 6.622795 0.99106 0.99195 0.706548 0.996292786495608 0 0.997517125070282 TRUE 8.14127e-06 ENSE00001107078_020 ENSE00001107078 020 11 20089817 20089986 + 53 75 42 A G 20089909 726 93 GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTCCTCCTGGGAGGCATCCAGTTCCCGCCGCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 20068362 20068363 20068363 exon -36 0.533333333333333 CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGGAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC mutant NA NA NA NA NA 187 246 0.999779720721423 0.999845147812329 0.999812434266876 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA 0.0361437324771624 0.00712836468051525 0.989415948331521 0.978176385688037 NA 0.0216360485788388 NA FALSE NA 1 8.598 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000360655 22/38 1 deleterious(0.01) probably_damaging(0.917) NA GAA A,G 8.236e-06 11:20068363 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107078 missense_variant 6.17188 0.98267 0.98749 0.706548 0.998804429032521 0 0.997517125070282 TRUE 4.07024e-06 ENSE00001107078_028 ENSE00001107078 028 11 20089817 20089986 + 53 75 42 C T 20089972 734 156 GTGCTTCCTGTCCCAATGCTACTGCCCTATGTCTGTACTTACATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCTGGGAGGCATCCAGTTCCCGCCGCAGCTTGCGAATCTAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 20068425 20068426 20068426 downstr_intron 28 1.68292682926829 CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATTGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC mutant NA NA NA NA NA 96 57 1 1 1 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA 0.0363640117557397 0.00728321686818656 0.989415948331521 0.978176385688037 NA 0.0218236143119631 NA FALSE NA 0 -1.464 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000360655 22/37 1 NA TCG C,T 1.647e-05 11:20068426 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001107078 intron_variant -0.030477 0.04745 0.00305 0.099367 0.649275338256342 0.0954646 0.997517125070282 TRUE 1.22634e-05 ENSE00001107078_BRK ENSE00001107078 BRK 11 20089817 20089986 + 53 75 42 A,G; T,T NA NA NA GTGCTTCCTGTCCCGATGCTACTGCCCTATGTCTGTACTTGGATTTGCTGTCAGCTGGGTGGTCAAAGCTGAAACTTTCTCCTGGGAGGCATCCAGTTCCCGCCGCAGCTTGCGAATAAAAAGATGACAAGGGAGAGGGTTACATGCTTTGGGGGTCCATTTCCAAGGTG 20068270 20068440 NA NA NA NA NA NA CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTTTATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATCCAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC CACCTTGGAAATGGACCCCCAAAGCATGTAACCCTCTCCCTTGTCATCTTTAGATTCGCAAGCTGCGGCGGGAACTGGATGCCTCCCAGGAGAAAGTTTCAGCTTTGACCACCCAGCTGACAGCAAATGTAAGTACAGACATAGGGCAGTAGCATCGGGACAGGAAGCAC control NA NA NA NA NA 77 345 0 0.000928278054747853 0.000464139027373926 0.982510328296397 0.996321568366645 0.96363598824426 0.992716783131813 NA NA -0.96363598824426 -0.991788505077066 0.989415948331521 0.978176385688037 NA -0.977712246660663 NA TRUE NA NA NA NA NA NA NAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAV2 NA NA NA ENSG00000166833 ENSE00001107078 NA NA NA NA NA NA NA 0.997517125070282 TRUE NA ENSE00001107321_000 ENSE00001107321 000 12 57430049 57430218 - 42 75 53 NA NA NA NA NA TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG 57036264 57036434 NA NA NA NA NA NA TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG natural 43 28 0.92388472730604 0.888026048630839 0.90595538796844 1688 1327 0.997185422031674 0.913186361709466 0.95518589187057 0.92388472730604 0.888026048630839 0.997185422031674 0.913186361709466 0 0 0 0 0.90595538796844 0.95518589187057 0 0 0 FALSE FALSE NA NA NA NA NA MYO1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1A NA NA NA ENSG00000166866 ENSE00001107321 NA NA NA NA NA NA NA 1.94521735757924e-35 FALSE NA ENSE00001107321_008 ENSE00001107321 008 12 57430049 57430218 - 42 75 53 G A 57430119 2148 100 TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCATCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG 57036264 57036434 57036334 57036335 57036335 exon -29 0.626666666666667 TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCATCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG mutant NA NA NA NA NA 63 130 1 1 1 0.92388472730604 0.888026048630839 0.997185422031674 0.913186361709466 NA NA 0.00281457796832552 0.0868136382905337 0.90595538796844 0.95518589187057 NA 0.0448141081294296 NA FALSE NA 0 0.017 . missense_variant MODERATE MYO1A HGNC 7595 ENST00000300119 22/28 1 tolerated(0.47) benign(0.001) NA GGT G,A 1.647e-05 12:57036335 MYO1A HGNC Symbol protein_coding 22681 ENSG00000166866 ENSE00001107321 missense_variant 1.872663 0.95515 0.09976 0.554377 0.892454575548816 0 1.94521735757924e-35 FALSE 2.03316e-05 ENSE00001107321_016 ENSE00001107321 016 12 57430049 57430218 - 42 75 53 T C 57430146 2156 73 TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAGATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG 57036264 57036434 57036361 57036362 57036362 exon 20 0.266666666666667 TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAGATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG mutant NA NA NA NA NA 224 31 1 1 1 0.92388472730604 0.888026048630839 0.997185422031674 0.913186361709466 NA NA 0.00281457796832552 0.0868136382905337 0.90595538796844 0.95518589187057 NA 0.0448141081294296 NA FALSE NA 0.998 1.995 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:57036362 MYO1A HGNC Symbol protein_coding 22681 ENSG00000166866 ENSE00001107321 missense_variant 1.799372 0.97433 0.8085 0.554377 0.975725042209285 0 1.94521735757924e-35 FALSE 1.62641e-05 ENSE00001107321_017 ENSE00001107321 017 12 57430049 57430218 - 42 75 53 T G 57430146 2157 73 TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCACATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG 57036264 57036434 57036361 57036362 57036362 exon 20 0.266666666666667 TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCACATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG TTCTAGAATCTGCCTATCTTCACTTTGGCTCCTTTCTTGTACTTTTCTGCCAGGCCCGAAAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTACAAGAGCATGGTAAGTGGTAGGGGTTAGGGTGGATGTTAGGGATGGAGCAGG mutant NA NA NA NA NA 122 143 1 1 1 0.92388472730604 0.888026048630839 0.997185422031674 0.913186361709466 NA NA 0.00281457796832552 0.0868136382905337 0.90595538796844 0.95518589187057 NA 0.0448141081294296 NA FALSE NA 0.998 1.995 NA NA NA MYO1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1A NA NA NA ENSG00000166866 ENSE00001107321 missense_variant 3.959219 0.97577 0.88828 0.554377 0.997525518088244 0 1.94521735757924e-35 FALSE 8.13206e-06 ENSE00001108194_000 ENSE00001108194 000 11 60474401 60474570 + 60 60 50 NA NA NA NA NA GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 NA NA NA NA NA NA GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG natural 912 1387 0.851829497249005 0.853143789089392 0.852486643169198 4205 2666 0.771177165145892 0.885916348639563 0.828546756892728 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 0 0 0 0 0.852486643169198 0.828546756892728 0 0 0 FALSE FALSE NA NA NA NA NA MS4A8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MS4A8 NA NA NA ENSG00000166959 ENSE00003611485 NA NA NA NA NA NA NA 0.00260921171410416 FALSE NA ENSE00001108194_002 ENSE00001108194 002 11 60474401 60474570 + 60 60 50 C T 60474418 1313 18 GCCTGGGGAAGGGCACCTTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60706944 60706945 60706945 upstr_intron -43 -0.7 GCCTGGGGAAGGGCACCTTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 38 66 0.85 0.85 0.85 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900527 -0.00314378908939172 NA NA 0.852486643169198 0.828546756892728 -0.0024866431691985 NA NA NA FALSE 0 -0.985 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 2/3 1 NA CCT C,T 8.236e-06 11:60706945 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant 0.795787 0.13628 0.00986 0.053691 0.766096456474265 0.0824709 0.00260921171410416 FALSE 4.06468e-06 ENSE00001108194_003 ENSE00001108194 003 11 60474401 60474570 + 60 60 50 C A 60474422 1314 22 GCCTGGGGAAGGGCACCCTAGACCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60706948 60706949 60706949 upstr_intron -39 -0.633333333333333 GCCTGGGGAAGGGCACCCTAGACCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 19 15 0.85 0.85 0.85 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900527 -0.00314378908939172 NA NA 0.852486643169198 0.828546756892728 -0.0024866431691985 NA NA NA FALSE 0 -1.585 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 2/3 1 NA GCC C,A 8.236e-06 11:60706949 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant 0.499534 0.14642 0.00794 0.053691 0.804923644980342 0.0482947 0.00260921171410416 FALSE 4.06362e-06 ENSE00001108194_004 ENSE00001108194 004 11 60474401 60474570 + 60 60 50 C A 60474429 1315 29 GCCTGGGGAAGGGCACCCTAGCCCCTGAACTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60706955 60706956 60706956 upstr_intron -32 -0.516666666666667 GCCTGGGGAAGGGCACCCTAGCCCCTGAACTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 46 118 0.85 0.88034400575397 0.865172002876985 155 33 0.957582996517122 0.89412238441297 0.925852690465046 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900527 0.0272002166645787 0.18640583137123 0.00820603577340695 0.852486643169198 0.828546756892728 0.0126853597077867 0.0973059335723184 0.0846205738645316 FALSE FALSE 0 -0.805 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 2/3 1 NA ACC C,A 8.236e-06 11:60706956 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant 0.649226 0.10982 0.00664 0.053691 0.779782453396735 0.0482947 0.00260921171410416 FALSE 4.06223e-06 ENSE00001108194_005 ENSE00001108194 005 11 60474401 60474570 + 60 60 50 C T 60474441 1316 41 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAATCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60706967 60706968 60706968 upstr_intron -20 -0.316666666666667 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAATCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 31 18 0.832113629545909 0.85 0.841056814772955 93 634 0.95 0.949751858050913 0.949875929025457 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.0197158677030961 -0.00314378908939172 0.178822834854108 0.0638355094113501 0.852486643169198 0.828546756892728 -0.0114298283962439 0.121329172132729 0.132759000528973 FALSE FALSE 0 -1.217 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 2/3 1 NA ACC C,T 1.647e-05 11:60706968 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant 0.367144 0.13639 0.0138 0.053691 0.590717365687746 0.0482947 0.00260921171410416 FALSE 8.12269e-06 ENSE00001108194_006 ENSE00001108194 006 11 60474401 60474570 + 60 60 50 C T 60474442 1317 42 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACTCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60706968 60706969 60706969 upstr_intron -19 -0.3 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACTCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant NA NA NA NA NA 80 377 1 1 1 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 NA NA 0.228822834854108 0.114083651360437 0.852486643169198 0.828546756892728 NA 0.171453243107272 NA FALSE NA 0 -0.529 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 2/3 1 NA CCC C,T 8.236e-06 11:60706969 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant 0.315473 0.13389 0.00744 0.053691 0.617765285507505 0.0482947 0.00260921171410416 FALSE 4.06134e-06 ENSE00001108194_007 ENSE00001108194 007 11 60474401 60474570 + 60 60 50 C T 60474445 1318 45 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCATTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60706971 60706972 60706972 upstr_intron -16 -0.25 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCATTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant NA NA NA NA NA 650 903 0.9284309667543 0.870023548434607 0.899227257594454 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 NA NA 0.157253801608408 -0.0158928002049568 0.852486643169198 0.828546756892728 NA 0.0706805007017258 NA FALSE NA 0.004 0.537 rs80194727 intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 2/3 rs80194727 1 T:0.0072 T:0.0265 T:0.0014 NA T:0 T:0 T:0 T:0.0252 T:0.0002 ACT C,T 0.002265 11:60706972 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant 0.192364 0.16679 0.05933 0.053691 0.617226104987246 0.0482947 0.00260921171410416 FALSE 0.0019088 ENSE00001108194_008 ENSE00001108194 008 11 60474401 60474570 + 60 60 50 C G 60474452 1319 52 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTGTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60706978 60706979 60706979 upstr_intron -9 -0.133333333333333 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTGTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 12 65 0.85 0.85 0.85 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900527 -0.00314378908939172 NA NA 0.852486643169198 0.828546756892728 -0.0024866431691985 NA NA NA FALSE 0.001 0.6 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 2/3 1 NA TCT C,G 8.236e-06 11:60706979 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant -0.027585 0.14307 0.02328 0.053691 0.592203957880596 0.0902393 0.00260921171410416 FALSE 4.06091e-06 ENSE00001108194_010 ENSE00001108194 010 11 60474401 60474570 + 60 60 50 T C 60474469 1321 69 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATCTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60706995 60706996 60706996 exon 9 0.15 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATCTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 182 196 0.00722061993302067 0 0.00361030996651033 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.844608877315985 -0.853143789089392 NA NA 0.852486643169198 0.828546756892728 -0.848876333202688 NA NA NA TRUE 1 1.089 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/4 rs565326968 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTT T,C 1.647e-05 11:60706996 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 synonymous_variant 0.441714 0.95716 0.72657 0.487112 0.739811097239965 0 0.00260921171410416 FALSE 8.12183e-06 ENSE00001108194_011 ENSE00001108194 011 11 60474401 60474570 + 60 60 50 A T 60474475 1322 75 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGTTCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707001 60707002 60707002 exon 15 0.25 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGTTCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 60 40 0.773283910370144 0.85 0.811641955185072 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.0785455868788617 -0.00314378908939172 NA NA 0.852486643169198 0.828546756892728 -0.0408446879841267 NA NA NA FALSE 0.652 0.95 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/4 1 NA GAT A,T 8.236e-06 11:60707002 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 synonymous_variant -0.369886 0.95848 0.76961 0.487112 0.699448040806849 0 0.00260921171410416 FALSE 4.06088e-06 ENSE00001108194_013 ENSE00001108194 013 11 60474401 60474570 + 60 60 50 G A 60474485 1324 85 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCATGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707011 60707012 60707012 exon 25 0.416666666666667 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCATGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 38 57 0.85 0.85 0.85 90 536 0.804671063176942 0.8 0.802335531588471 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900527 -0.00314378908939184 0.0334938980310503 -0.0859163486395633 0.852486643169198 0.828546756892728 -0.00248664316919855 -0.0262112253042565 0.023724582135058 FALSE FALSE 0.907 3.848 rs140709117 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/4 rs140709117 1 NA A:0.0002 A:0.0001 CGT G,A 0.0001647 11:60707012 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 missense_variant 4.293536 0.35544 0.7642 0.500041 0.997604111645506 0 0.00260921171410416 FALSE 0.000203046 ENSE00001108194_014 ENSE00001108194 014 11 60474401 60474570 + 60 60 50 G A 60474491 1325 91 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAACAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707017 60707018 60707018 exon -30 0.516666666666667 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAACAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 15 19 0.85 0.85 0.85 227 115 0.989261813178367 0.989466282168885 0.989364047673626 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900527 -0.00314378908939172 0.218084648032475 0.103549933529322 0.852486643169198 0.828546756892728 -0.0024866431691985 0.160817290780898 0.163303933950097 FALSE FALSE 0.828 1.399 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/4 1 NA AGC G,A 8.236e-06 11:60707018 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 missense_variant 3.738615 0.65727 0.6154 0.500041 0.997576550233546 0 0.00260921171410416 FALSE 4.06088e-06 ENSE00001108194_015 ENSE00001108194 015 11 60474401 60474570 + 60 60 50 C T 60474492 1326 92 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGTAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707018 60707019 60707019 exon -29 0.533333333333333 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGTAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 35 105 0.834178740962627 0.85 0.842089370481313 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.0176507562863785 -0.00314378908939172 NA NA 0.852486643169198 0.828546756892728 -0.0103972726878851 NA NA NA FALSE 0.91 1.56 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/4 1 NA GCA C,T 8.236e-06 11:60707019 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 missense_variant 5.61065 0.88307 0.7765 0.500041 0.998744074166794 0 0.00260921171410416 FALSE NA ENSE00001108194_016 ENSE00001108194 016 11 60474401 60474570 + 60 60 50 T C 60474506 1327 106 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCACATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707032 60707033 60707033 exon -15 0.766666666666667 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCACATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 13 12 0.186949086597636 0.300331036467219 0.243640061532428 28 34 0.928013120570002 0.8 0.864006560285001 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.664880410651369 -0.552812752622172 0.15683595542411 -0.0859163486395633 0.852486643169198 0.828546756892728 -0.608846581636771 0.0354598033922731 0.644306385029044 FALSE TRUE 0 -0.223 rs144721499 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/4 rs144721499 1 NA C:0.0005 C:0 ATA T,C 8.236e-06 11:60707033 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 missense_variant -1.081972 0.1405 0.00844 0.500041 0.195770915473658 0 0.00260921171410416 FALSE 4.06075e-06 ENSE00001108194_017 ENSE00001108194 017 11 60474401 60474570 + 60 60 50 G T 60474516 1328 116 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTTCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707042 60707043 60707043 exon -5 0.933333333333333 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTTCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant NA NA NA NA NA 30 48 0.8 0.809044954244045 0.804522477122023 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 NA NA 0.028822834854108 -0.0768713943955179 0.852486643169198 0.828546756892728 NA -0.024024279770705 NA FALSE NA 0.881 1.433 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/4 1 NA TGC G,T 8.236e-06 11:60707043 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 missense_variant 4.429051 0.93626 0.69843 0.500041 0.983135560917091 0 0.00260921171410416 FALSE 8.1215e-06 ENSE00001108194_018 ENSE00001108194 018 11 60474401 60474570 + 60 60 50 G A 60474521 1329 121 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGATAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707047 60707048 60707048 downstr_intron 1 1.02040816326531 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGATAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 297 146 0 0 0 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.851829497249005 -0.853143789089392 NA NA 0.852486643169198 0.828546756892728 -0.852486643169198 NA NA NA TRUE 1 3.621 . splice_donor_variant&non_coding_transcript_variant HIGH MS4A8 HGNC 13380 ENST00000533354 3/3 rs377663582 1 NA A:0 A:0.0001 GGT G,A 8.236e-06 11:60707048 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 splice_donor_variant 3.456448 0.97769 0.93648 0.080754 0.987317326980576 0.928752 0.00260921171410416 FALSE 4.06101e-06 ENSE00001108194_019 ENSE00001108194 019 11 60474401 60474570 + 60 60 50 A C 60474530 1330 130 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACCTTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707056 60707057 60707057 downstr_intron 10 1.20408163265306 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACCTTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant NA NA NA NA NA 10 362 1 0.977232198810973 0.988616099405486 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 NA NA 0.228822834854108 0.0913158501714094 0.852486643169198 0.828546756892728 NA 0.160069342512759 NA FALSE NA 0 0.219 rs147892392 intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/3 rs147892392 1 C:0.0054 C:0 C:0 NA C:0.0258 C:0 C:0.001 CAT A,C 0.001483 11:60707057 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant -0.315397 0.12617 0.0264 0.080754 0.386456626621812 0.0487877 0.00260921171410416 FALSE 0.0015026 ENSE00001108194_020 ENSE00001108194 020 11 60474401 60474570 + 60 60 50 G A 60474535 1331 135 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTAAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707061 60707062 60707062 downstr_intron 15 1.30612244897959 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTAAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 18 78 0.85 0.739513101044984 0.794756550522492 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900527 -0.113630688044408 NA NA 0.852486643169198 0.828546756892728 -0.0577300926467065 NA NA NA FALSE 0 -0.016 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/3 1 NA TGA G,A 1.647e-05 11:60707062 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant -0.166418 0.1299 0.00949 0.080754 0.503808008350177 0.0487877 0.00260921171410416 FALSE 1.62446e-05 ENSE00001108194_021 ENSE00001108194 021 11 60474401 60474570 + 60 60 50 G C 60474537 1332 137 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGACACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707063 60707064 60707064 downstr_intron 17 1.3469387755102 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGACACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 21 70 0.85 0.85 0.85 123 195 0.833534868521638 0.949915184490948 0.891725026506293 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900516 -0.00314378908939172 0.0623577033757459 0.0639988358513849 0.852486643169198 0.828546756892728 -0.00248664316919844 0.0631782696135654 0.0656649127827638 FALSE FALSE 0 -0.034 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/3 1 NA AGA G,C 1.647e-05 11:60707064 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant -0.405892 0.14871 0.0204 0.080754 0.32660032743182 0.0487877 0.00260921171410416 FALSE 8.12236e-06 ENSE00001108194_022 ENSE00001108194 022 11 60474401 60474570 + 60 60 50 A G 60474538 1333 138 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGGCCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 60707064 60707065 60707065 downstr_intron 18 1.36734693877551 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGGCCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant 10 10 0.85 0.85 0.85 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 -0.00182949724900527 -0.00314378908939172 NA NA 0.852486643169198 0.828546756892728 -0.0024866431691985 NA NA NA FALSE 0 -0.348 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/3 1 NA GAC A,G 8.236e-06 11:60707065 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant -0.094257 0.11417 0.00974 0.080754 0.295592645511739 0.0487877 0.00260921171410416 FALSE 8.12209e-06 ENSE00001108194_023 ENSE00001108194 023 11 60474401 60474570 + 60 60 50 C T 60474552 1334 152 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAATTGGAGACCTATAGAATGG 60706927 60707097 60707078 60707079 60707079 downstr_intron 32 1.6530612244898 GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAATTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG mutant NA NA NA NA NA 92 30 0.887933793926532 0.936125316212531 0.912029555069532 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 NA NA 0.11675662878064 0.0502089675729678 0.852486643169198 0.828546756892728 NA 0.083482798176804 NA FALSE NA 0 -0.308 . intron_variant&non_coding_transcript_variant MODIFIER MS4A8 HGNC 13380 ENST00000533354 3/3 rs370509039 1 NA T:0.0007 T:0 ACT C,T 8.236e-06 11:60707079 MS4A8 HGNC Symbol protein_coding 16237 ENSG00000166959 ENSE00003611485 intron_variant -0.178661 0.10646 0.02318 0.080754 0.470661659212274 0.0482207 0.00260921171410416 FALSE 4.06177e-06 ENSE00001108194_BRK ENSE00001108194 BRK 11 60474401 60474570 + 60 60 50 A,G; T,T NA NA NA GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCTTTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGCCAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG 60706927 60707097 NA NA NA NA NA NA GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCTTTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGCCAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG GCCTGGGGAAGGGCACCCTAGCCCCTGACCTCTTTCTAAACCCACTCTGTTCTGTACCAGTTTATCATTTCAGGATCTCTCTCCGTGGCAGCAGAAAATCAGCCATATTCTTATTGCCTGGTAAGTTACATTCTGAGACCAGCTCTTCCAACTGGAGACCTATAGAATGG control 13 15 1 1 1 NA NA NA NA NA 0.851829497249005 0.853143789089392 0.771177165145892 0.885916348639563 0.148170502750995 0.146856210910608 NA NA 0.852486643169198 0.828546756892728 0.147513356830802 NA NA NA FALSE NA NA NA NA NA MS4A8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MS4A8 NA NA NA ENSG00000166959 ENSE00003611485 NA NA NA NA NA NA NA 0.00260921171410416 FALSE NA ENSE00001108539_000 ENSE00001108539 000 X 18970556 18970725 - 56 48 66 NA NA NA NA NA TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG 18952437 18952607 NA NA NA NA NA NA TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG natural 44 36 0.99502133745246 0.998742713562953 0.996882025507706 2645 4324 0.872164752953145 0.983600088596193 0.927882420774669 0.99502133745246 0.998742713562953 0.872164752953145 0.983600088596193 0 0 0 0 0.996882025507706 0.927882420774669 0 0 0 FALSE FALSE NA NA NA NA NA PHKA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHKA2 NA NA NA ENSG00000044446 ENSE00001108539 NA NA NA NA NA NA NA 0.908082279776674 TRUE NA ENSE00001108539_001 ENSE00001108539 001 X 18970556 18970725 - 56 48 66 G T 18970566 226 160 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTAATTGTAATTG 18952437 18952607 18952447 18952448 18952448 downstr_intron 46 1.83636363636364 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTAATTGTAATTG TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG mutant NA NA NA NA NA 90 95 0.973424814998085 1 0.986712407499043 0.99502133745246 0.998742713562953 0.872164752953145 0.983600088596193 NA NA 0.10126006204494 0.0163999114038074 0.996882025507706 0.927882420774669 NA 0.0588299867243739 NA FALSE NA 0.011 1.068 . intron_variant MODIFIER PHKA2 HGNC 8926 ENST00000379942 3/32 rs199512396 1 T:0 T:0 NA T:0.001 T:0 T:0 TGA G 4.942e-05 X:18952448 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00001108539 intron_variant -0.001653 0.22372 0.12911 0 0.706924195813681 0.0862473 0.908082279776674 TRUE 6.17818e-05 ENSE00001108539_007 ENSE00001108539 007 X 18970556 18970725 - 56 48 66 G A 18970600 232 126 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACTCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG 18952437 18952607 18952481 18952482 18952482 downstr_intron 12 1.21818181818182 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACTCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG mutant NA NA NA NA NA 16 219 1 1 1 0.99502133745246 0.998742713562953 0.872164752953145 0.983600088596193 NA NA 0.127835247046855 0.0163999114038074 0.996882025507706 0.927882420774669 NA 0.0721175792253312 NA FALSE NA 0 0.14 . intron_variant MODIFIER PHKA2 HGNC 8926 ENST00000379942 3/32 1 NA GGG G 8.236e-06 X:18952482 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00001108539 intron_variant -0.2685 0.19839 0.02826 0 0.717992205695734 0.121008 0.908082279776674 TRUE 5.59556e-06 ENSE00001108539_008 ENSE00001108539 008 X 18970556 18970725 - 56 48 66 C T 18970627 233 99 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAATGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG 18952437 18952607 18952508 18952509 18952509 exon -16 0.6875 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAATGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG mutant NA NA NA NA NA 53 715 1 0.985735981357989 0.992867990678995 0.99502133745246 0.998742713562953 0.872164752953145 0.983600088596193 NA NA 0.127835247046855 0.00213589276179638 0.996882025507706 0.927882420774669 NA 0.0649855699043257 NA FALSE NA 1 1.206 . synonymous_variant LOW PHKA2 HGNC 8926 ENST00000379942 3/33 1 NA ACT C 8.236e-06 X:18952509 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00001108539 synonymous_variant 1.540672 0.98013 0.8839 0 0.61486112199214 0 0.908082279776674 TRUE 5.59356e-06 ENSE00001108539_009 ENSE00001108539 009 X 18970556 18970725 - 56 48 66 C T 18970640 234 86 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCAAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG 18952437 18952607 18952521 18952522 18952522 exon 20 0.416666666666667 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCAAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG mutant NA NA NA NA NA 26 142 0.819618902870357 0.982501255157437 0.901060079013897 0.99502133745246 0.998742713562953 0.872164752953145 0.983600088596193 NA NA -0.0525458500827879 -0.00109883343875539 0.996882025507706 0.927882420774669 NA -0.0268223417607716 NA FALSE NA 1 2.726 . missense_variant MODERATE PHKA2 HGNC 8926 ENST00000379942 3/33 1 tolerated(0.24) benign(0.199) NA TCG C 1.647e-05 X:18952522 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00001108539 missense_variant 4.73206 0.99019 0.93791 0 0.999224534199468 0 0.908082279776674 TRUE 2.79716e-05 ENSE00001108539_010 ENSE00001108539 010 X 18970556 18970725 - 56 48 66 G A 18970657 235 69 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAATGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG 18952437 18952607 18952538 18952539 18952539 exon 3 0.0625 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAATGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG mutant NA NA NA NA NA 214 77 0.999089885154758 1 0.999544942577379 0.99502133745246 0.998742713562953 0.872164752953145 0.983600088596193 NA NA 0.126925132201613 0.0163999114038074 0.996882025507706 0.927882420774669 NA 0.0716625218027102 NA FALSE NA 0.691 -0.005 . splice_region_variant&synonymous_variant LOW PHKA2 HGNC 8926 ENST00000379942 3/33 1 NA CGT G 2.471e-05 X:18952539 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00001108539 splice_region_variant 1.736776 0.97027 0.50073 0 0.906916841926759 0 0.908082279776674 TRUE 1.67904e-05 ENSE00001108539_014 ENSE00001108539 014 X 18970556 18970725 - 56 48 66 G A 18970689 239 37 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCTGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG 18952437 18952607 18952570 18952571 18952571 upstr_intron -30 -0.439393939393939 TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCTGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG TCAGGAGGTGATTTTCCTGCAGCAAGGACCCTGGGCCGTGTTGCTGATTCTGCTTTATCTCCACAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTAGGCAGAACCCACACACGTGTTTGCCAAGTGGGCATTCCATGTCATTGTAATTG mutant NA NA NA NA NA 16 66 0.987530463726989 1 0.993765231863494 0.99502133745246 0.998742713562953 0.872164752953145 0.983600088596193 NA NA 0.115365710773844 0.0163999114038074 0.996882025507706 0.927882420774669 NA 0.0658828110888257 NA FALSE NA 0 0.161 . intron_variant MODIFIER PHKA2 HGNC 8926 ENST00000379942 2/32 1 NA CGG G 2.471e-05 X:18952571 PHKA2 HGNC Symbol protein_coding 92298 ENSG00000044446 ENSE00001108539 intron_variant 0.192831 0.14924 0.04889 0 0.760753827931671 0.078079 0.908082279776674 TRUE 2.25698e-05 ENSE00001108600_000 ENSE00001108600 000 12 57971738 57971907 + 54 72 44 NA NA NA NA NA GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 NA NA NA NA NA NA GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC natural 149 154 0.984043155749581 0.998314501003158 0.991178828376369 1138 1368 0.986870532464718 0.994859704072825 0.990865118268771 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 0 0 0 0 0.991178828376369 0.990865118268771 0 0 0 FALSE FALSE NA NA NA NA NA KIF5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF5A NA NA NA ENSG00000155980 ENSE00001108600 NA NA NA NA NA NA NA 0.999979703146806 TRUE NA ENSE00001108600_001 ENSE00001108600 001 12 57971738 57971907 + 54 72 44 A G 57971770 2271 33 GAATAGGACAGACCTGGTATCTGGCTATTCCCGATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57577986 57577987 57577987 upstr_intron -22 -0.388888888888889 GAATAGGACAGACCTGGTATCTGGCTATTCCCGATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 1127 290 0.973065937748365 0.999454255961965 0.986260096855165 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA -0.0138045947163522 0.00459455188914026 0.991178828376369 0.990865118268771 NA -0.00460502141360597 NA FALSE NA 0 -0.692 . upstream_gene_variant MODIFIER KIF5A HGNC 6323 ENST00000552227 1 NA CAA A,G 2.471e-05 12:57577987 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 intron_variant 0.434087 0.23879 0.06111 0.07523 0.595729953612437 0.0476178 0.999979703146806 TRUE 2.43657e-05 ENSE00001108600_003 ENSE00001108600 003 12 57971738 57971907 + 54 72 44 C T 57971822 2273 85 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTTGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578038 57578039 57578039 exon 31 0.430555555555556 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTTGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 830 164 0.997983190176782 0.994229002428927 0.996106096302855 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.0111126577120642 -0.000630701643897891 0.991178828376369 0.990865118268771 NA 0.00524097803408313 NA FALSE NA 1 5.714 . upstream_gene_variant MODIFIER KIF5A HGNC 6323 ENST00000552227 rs372633156&COSM942126 1 NA T:0 T:0.0001 TCG C,T 1.647e-05 12:57578039 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 missense_variant 7.78537 0.9863 0.96872 0.706548 0.999383977645688 0 0.999979703146806 TRUE 8.1215e-06 ENSE00001108600_007 ENSE00001108600 007 12 57971738 57971907 + 54 72 44 C T 57971847 2277 110 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCATGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578063 57578064 57578064 exon -17 0.777777777777778 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCATGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 56 234 1 0.991250074338826 0.995625037169413 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.0131294675352823 -0.00360962973399914 0.991178828376369 0.990865118268771 NA 0.00475991890064159 NA FALSE NA 1 5.868 . upstream_gene_variant MODIFIER KIF5A HGNC 6323 ENST00000552227 COSM1512827 1 NA ACG C,T 8.236e-06 12:57578064 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 missense_variant 7.446907 0.99446 0.98063 0.706548 0.998916007757543 0 0.999979703146806 TRUE 4.06091e-06 ENSE00001108600_008 ENSE00001108600 008 12 57971738 57971907 + 54 72 44 G A 57971848 2278 111 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACAACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578064 57578065 57578065 exon -16 0.791666666666667 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACAACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 315 214 0.986281823106384 1 0.993140911553192 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA -0.000588709358333772 0.00514029592717502 0.991178828376369 0.990865118268771 NA 0.00227579328442062 NA FALSE NA 0.188 -0.143 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:57578065 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 synonymous_variant 1.739307 0.9796 0.66492 0.706548 0.723442870242458 0 0.999979703146806 TRUE 0.000808161 ENSE00001108600_009 ENSE00001108600 009 12 57971738 57971907 + 54 72 44 G T 57971848 2279 111 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACTACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578064 57578065 57578065 exon -16 0.791666666666667 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACTACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 317 26 0.997108431762289 1 0.998554215881144 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.010237899297571 0.00514029592717502 0.991178828376369 0.990865118268771 NA 0.00768909761237302 NA FALSE NA 0.188 -0.143 NA NA NA KIF5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF5A NA NA NA ENSG00000155980 ENSE00001108600 synonymous_variant 1.224232 0.98046 0.69833 0.706548 0.734135058295992 0 0.999979703146806 TRUE 4.06111e-06 ENSE00001108600_010 ENSE00001108600 010 12 57971738 57971907 + 54 72 44 G A 57971860 2280 123 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAAAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578076 57578077 57578077 exon -4 0.958333333333333 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAAAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 75 511 1 0.998950483728516 0.999475241864258 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.0131294675352823 0.00409077965569071 0.991178828376369 0.990865118268771 NA 0.00861012359548652 NA FALSE NA 1 1.284 . upstream_gene_variant MODIFIER KIF5A HGNC 6323 ENST00000552227 1 NA AGA G,A 8.236e-06 12:57578077 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 synonymous_variant 1.402418 0.98802 0.79681 0.706548 0.550229490271864 0 0.999979703146806 TRUE 4.06131e-06 ENSE00001108600_011 ENSE00001108600 011 12 57971738 57971907 + 54 72 44 G A 57971873 2281 136 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTATCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578089 57578090 57578090 downstr_intron 10 1.23255813953488 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTATCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 210 292 1 1 1 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.0131294675352823 0.00514029592717502 0.991178828376369 0.990865118268771 NA 0.00913488173122867 NA FALSE NA 0 -1.491 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:57578090 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 intron_variant 0.488703 0.09521 0.00281 0.062308 0.665768216599179 0.0950462 0.999979703146806 TRUE 4.0623e-06 ENSE00001108600_012 ENSE00001108600 012 12 57971738 57971907 + 54 72 44 G C 57971873 2282 136 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTCTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578089 57578090 57578090 downstr_intron 10 1.23255813953488 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTCTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 206 604 0.990124924614828 0.9967447318222 0.993434828218514 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.00325439215011036 0.00188502774937505 0.991178828376369 0.990865118268771 NA 0.0025697099497427 NA FALSE NA 0 -1.491 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF5A NA NA NA ENSG00000155980 ENSE00001108600 intron_variant 0.222765 0.15725 0.03094 0.062308 0.528361347978752 0.0950462 0.999979703146806 TRUE 4.0623e-06 ENSE00001108600_013 ENSE00001108600 013 12 57971738 57971907 + 54 72 44 T C 57971877 2283 140 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCCTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578093 57578094 57578094 downstr_intron 14 1.32558139534884 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCCTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 287 205 0.971589215678828 0.930961024318441 0.951275119998634 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA -0.0152813167858901 -0.0638986797543838 0.991178828376369 0.990865118268771 NA -0.0395899982701369 NA FALSE NA 0 -0.271 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:57578094 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 intron_variant 0.672086 0.19622 0.0294 0.062308 0.535130208516728 0.046323 0.999979703146806 TRUE 4.0625e-06 ENSE00001108600_014 ENSE00001108600 014 12 57971738 57971907 + 54 72 44 T G 57971877 2284 140 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCGTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578093 57578094 57578094 downstr_intron 14 1.32558139534884 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCGTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 37 36 1 1 1 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.0131294675352823 0.00514029592717502 0.991178828376369 0.990865118268771 NA 0.00913488173122867 NA FALSE NA 0 -0.271 NA NA NA KIF5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF5A NA NA NA ENSG00000155980 ENSE00001108600 intron_variant 0.767461 0.23202 0.06871 0.062308 0.531156594498497 0.046323 0.999979703146806 TRUE 4.0625e-06 ENSE00001108600_015 ENSE00001108600 015 12 57971738 57971907 + 54 72 44 G C 57971879 2285 142 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTCGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578095 57578096 57578096 downstr_intron 16 1.37209302325581 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTCGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 139 187 1 0.999796228216871 0.999898114108436 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.0131294675352823 0.00493652414404644 0.991178828376369 0.990865118268771 NA 0.00903299583966438 NA FALSE NA 0 -0.685 . upstream_gene_variant MODIFIER KIF5A HGNC 6323 ENST00000552227 1 NA TGG G,C 8.236e-06 12:57578096 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 intron_variant 0.296779 0.14759 0.0132 0.062308 0.556512242003804 0.0810757 0.999979703146806 TRUE 1.21899e-05 ENSE00001108600_016 ENSE00001108600 016 12 57971738 57971907 + 54 72 44 G A 57971882 2286 145 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGATTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 57578098 57578099 57578099 downstr_intron 19 1.44186046511628 GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGATTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC mutant NA NA NA NA NA 704 354 1 0.998370941635556 0.999185470817778 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA 0.0131294675352823 0.00351123756273086 0.991178828376369 0.990865118268771 NA 0.00832035254900659 NA FALSE NA 0 -1.225 rs114929380 upstream_gene_variant MODIFIER KIF5A HGNC 6323 ENST00000552227 rs114929380 1 A:0.0014 A:0.0045 A:0.0014 NA A:0 A:0 A:0 A:0.0059 A:0 GGT G,A 0.0005024 12:57578099 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001108600 intron_variant 0.556143 0.15892 0.02231 0.062308 0.701387968350054 0.046323 0.999979703146806 TRUE 0.000369789 ENSE00001108600_BRK ENSE00001108600 BRK 12 57971738 57971907 + 54 72 44 A,G; T,T NA NA NA GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCTTGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAACCGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC 57577954 57578124 NA NA NA NA NA NA GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCTTGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAACCGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC GAATAGGACAGACCTGGTATCTGGCTATTCCCAATTTTTCATCATTCTTTCCAGGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTGTTCGTTCAAGACGTCACGACTCGAGTCAAGAAAGTGAGTGCTGTCCTTGGGGTTTTGTCAGCCCCCACATCCTCCTC control NA NA NA NA NA 678 440 0 0.000727580533558182 0.000363790266779091 0.984043155749581 0.998314501003158 0.986870532464718 0.994859704072825 NA NA -0.986870532464718 -0.994132123539267 0.991178828376369 0.990865118268771 NA -0.990501328001992 NA TRUE NA NA NA NA NA NA KIF5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF5A NA NA NA ENSG00000155980 ENSE00001108600 NA NA NA NA NA NA NA 0.999979703146806 TRUE NA ENSE00001108678_000 ENSE00001108678 000 16 56473534 56473703 - 35 90 45 NA NA NA NA NA GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGTAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTACATTTGCTGGGCATTTTGGA 56439621 56439791 NA NA NA NA NA NA GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGTAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTACATTTGCTGGGCATTTTGGA GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGTAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTACATTTGCTGGGCATTTTGGA natural 10 31 0.988753462162093 0.951646579810273 0.970200020986183 1234 1011 0.924669585523698 0.99350340298264 0.959086494253169 0.988753462162093 0.951646579810273 0.924669585523698 0.99350340298264 0 0 0 0 0.970200020986183 0.959086494253169 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUDT21 NA NA NA ENSG00000167005 ENSE00001108678 NA NA NA NA NA NA NA 0.947296445770822 TRUE NA ENSE00001108678_003 ENSE00001108678 003 16 56473534 56473703 - 35 90 45 G T 56473553 1730 151 GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGTAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTAAATTTGCTGGGCATTTTGGA 56439621 56439791 56439640 56439641 56439641 downstr_intron 16 1.47058823529412 GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGTAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTAAATTTGCTGGGCATTTTGGA GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGTAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTACATTTGCTGGGCATTTTGGA mutant NA NA NA NA NA 203 343 0.999390229462117 0.994252245168347 0.996821237315232 0.988753462162093 0.951646579810273 0.924669585523698 0.99350340298264 NA NA 0.0747206439384194 0.000748842185707255 0.970200020986183 0.959086494253169 NA 0.0377347430620633 NA FALSE NA 0 -0.96 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:56439641 NUDT21 HGNC Symbol protein_coding 23066 ENSG00000167005 ENSE00001108678 intron_variant -0.048152 0.26161 0.02533 0.295142 0.481632629058924 0.157936 0.947296445770822 TRUE 8.13537e-06 ENSE00001108678_006 ENSE00001108678 006 16 56473534 56473703 - 35 90 45 A C 56473602 1733 102 GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGGAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTACATTTGCTGGGCATTTTGGA 56439621 56439791 56439689 56439690 56439690 exon -34 0.633333333333333 GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGGAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTACATTTGCTGGGCATTTTGGA GAGTACATATATTTAGTTGTTTACTGGCTTATTTCTTTTTGACAGATACTGGGTCGTCAGGATGGAGTTTTGCAAGACTGGGTCATTGACGATTGCATTGGTAACTGGTGGAGACCAAATTTTGAACCTCCTCAGGTCAGTGTTCAGTTACATTTGCTGGGCATTTTGGA mutant NA NA NA NA NA 14 273 1 1 1 0.988753462162093 0.951646579810273 0.924669585523698 0.99350340298264 NA NA 0.0753304144763023 0.00649659701736005 0.970200020986183 0.959086494253169 NA 0.0409135057468312 NA FALSE NA 0.766 -0.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:56439690 NUDT21 HGNC Symbol protein_coding 23066 ENSG00000167005 ENSE00001108678 synonymous_variant 0.126319 0.97176 0.78931 0.732398 0.733316560444839 0 0.947296445770822 TRUE 4.06062e-06 ENSE00001108726_000 ENSE00001108726 000 15 37387711 37387880 - 54 51 65 NA NA NA NA NA CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 NA NA NA NA NA NA CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG natural 69 19 0.934895445595715 0.968950989550195 0.951923217572955 2724 3160 0.80797934155128 0.976293794395113 0.892136567973196 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 0 0 0 0 0.951923217572955 0.892136567973196 0 0 0 FALSE FALSE NA NA NA NA NA MEIS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MEIS2 NA NA NA ENSG00000134138 ENSE00003642793 NA NA NA NA NA NA NA 0.994254955106549 TRUE NA ENSE00001108726_002 ENSE00001108726 002 15 37387711 37387880 - 54 51 65 A T 37387746 339 135 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTAGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095544 37095545 37095545 downstr_intron 19 1.35849056603774 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTAGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 344 294 1 0.998166928118987 0.999083464059494 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.19202065844872 0.0218731337238743 0.951923217572955 0.892136567973196 NA 0.106946896086297 NA FALSE NA 0 -0.109 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 4/12 rs373430473 1 NA T:0 T:0.0001 CAA A,T 8.236e-06 15:37095545 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 intron_variant 0.459821 0.24763 0.34319 0.166803 0.863827147321264 0.31705 0.994254955106549 TRUE NA ENSE00001108726_003 ENSE00001108726 003 15 37387711 37387880 - 54 51 65 G T 37387749 340 132 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTACTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095547 37095548 37095548 downstr_intron 16 1.30188679245283 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTACTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 1314 17 0.997050389685528 0.960860912080179 0.978955650882853 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.189071048134248 -0.015432882314934 0.951923217572955 0.892136567973196 NA 0.086819082909657 NA FALSE NA 0 0.155 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 4/12 1 NA GGA G,T 8.236e-06 15:37095548 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 intron_variant 1.002131 0.27961 0.30883 0.166803 0.871568260345177 0.31705 0.994254955106549 TRUE 4.06058e-06 ENSE00001108726_004 ENSE00001108726 004 15 37387711 37387880 - 54 51 65 C G 37387760 341 121 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAACGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095558 37095559 37095559 downstr_intron 5 1.09433962264151 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAACGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 281 173 0.945845619298614 0.986416392726897 0.966131006012755 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.137866277747334 0.010122598331784 0.951923217572955 0.892136567973196 NA 0.0739944380395591 NA FALSE NA 1 7.768 . splice_region_variant&intron_variant LOW MEIS2 HGNC 7001 ENST00000424352 4/12 1 NA CCT C,G 8.236e-06 15:37095559 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 splice_region_variant 2.960535 0.97797 0.98522 0.166803 0.974992752675709 0.991398 0.994254955106549 TRUE 4.06065e-06 ENSE00001108726_005 ENSE00001108726 005 15 37387711 37387880 - 54 51 65 A G 37387768 342 113 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAACTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095566 37095567 37095567 exon -4 0.941176470588235 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAACTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 456 3190 0.998729622060938 0.984479493679605 0.991604557870272 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.190750280509658 0.00818569928449231 0.951923217572955 0.892136567973196 NA 0.0994679898970753 NA FALSE NA 1 3.783 . synonymous_variant LOW MEIS2 HGNC 7001 ENST00000424352 4/13 1 NA AAT A,G 8.236e-06 15:37095567 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 missense_variant 0.048865 0.95 0.93498 0.493124 0.944650239188307 0 0.994254955106549 TRUE 4.06058e-06 ENSE00001108726_006 ENSE00001108726 006 15 37387711 37387880 - 54 51 65 A G 37387791 343 90 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTCCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095589 37095590 37095590 exon 25 0.490196078431373 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTCCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 660 71 0.975107865415659 0.969593920279128 0.972350892847393 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.167128523864379 -0.00669987411598494 0.951923217572955 0.892136567973196 NA 0.0802143248741969 NA FALSE NA 1 9.279 . missense_variant MODERATE MEIS2 HGNC 7001 ENST00000424352 4/13 1 deleterious(0.02) possibly_damaging(0.905) NA GAA A,G 8.236e-06 15:37095590 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 missense_variant 6.629755 0.97198 0.98772 0.493124 0.998979143339383 0 0.994254955106549 TRUE 1.21818e-05 ENSE00001108726_008 ENSE00001108726 008 15 37387711 37387880 - 54 51 65 A G 37387836 345 45 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGCTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095634 37095635 37095635 upstr_intron -21 -0.307692307692308 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGCTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 103 20 1 1 1 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.19202065844872 0.0237062056048871 0.951923217572955 0.892136567973196 NA 0.107863432026804 NA FALSE NA 0.605 1.288 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 3/12 rs576505393 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAC A,G 0.0002306 15:37095635 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 intron_variant 0.29621 0.63492 0.36417 0.11394 0.408998764136273 0.2354 0.994254955106549 TRUE 0.000223345 ENSE00001108726_009 ENSE00001108726 009 15 37387711 37387880 - 54 51 65 G C 37387844 346 37 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATGGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095642 37095643 37095643 upstr_intron -29 -0.430769230769231 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATGGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 774 339 1 1 1 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.19202065844872 0.0237062056048871 0.951923217572955 0.892136567973196 NA 0.107863432026804 NA FALSE NA 0 -1.689 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 3/12 1 NA CGA G,C 7.413e-05 15:37095643 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 intron_variant 0.240161 0.243 0.11216 0.11394 0.614908357507048 0.0848354 0.994254955106549 TRUE 6.09216e-05 ENSE00001108726_010 ENSE00001108726 010 15 37387711 37387880 - 54 51 65 T A 37387846 347 35 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGTTCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095644 37095645 37095645 upstr_intron -31 -0.461538461538462 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGTTCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 70 1450 0.990833917695134 0.998275547130956 0.994554732413045 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.182854576143854 0.0219817527358431 0.951923217572955 0.892136567973196 NA 0.102418164439849 NA FALSE NA 0 -0.031 rs116985126 intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 3/12 rs116985126 1 A:0.0034 A:0 A:0.0043 NA A:0 A:0.0129 A:0.001 A:0.0036 A:0.0172 ATC T,A 0.012 15:37095645 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 intron_variant 0.727498 0.31705 0.10993 0.11394 0.672795957743259 0.0848354 0.994254955106549 TRUE 0.0126803 ENSE00001108726_011 ENSE00001108726 011 15 37387711 37387880 - 54 51 65 C T 37387847 348 34 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTAATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095645 37095646 37095646 upstr_intron -32 -0.476923076923077 CTCACATTTCAGCTTTCTTATTTTAAATGGGGTAATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 335 130 0.971976456001042 1 0.985988228000521 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.163997114449762 0.0237062056048871 0.951923217572955 0.892136567973196 NA 0.0938516600273247 NA FALSE NA 0 -0.047 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 3/12 1 NA TCA C,T 2.471e-05 15:37095646 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 intron_variant 0.805149 0.284 0.26683 0.11394 0.839167679265156 0.0848354 0.994254955106549 TRUE 3.24944e-05 ENSE00001108726_014 ENSE00001108726 014 15 37387711 37387880 - 54 51 65 A G 37387863 351 18 CTCACATTTCAGCTTTCCTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 37095661 37095662 37095662 upstr_intron -48 -0.723076923076923 CTCACATTTCAGCTTTCCTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG mutant NA NA NA NA NA 126 375 1 1 1 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 NA NA 0.19202065844872 0.0237062056048871 0.951923217572955 0.892136567973196 NA 0.107863432026804 NA FALSE NA 0 0.445 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 3/12 rs370842172 1 NA G:0 G:0.0001 AAG A,G 1.647e-05 15:37095662 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003642793 intron_variant 1.141478 0.2975 0.1198 0.11394 0.803409195645199 0.0840292 0.994254955106549 TRUE 8.13504e-06 ENSE00001108726_BRK ENSE00001108726 BRK 15 37387711 37387880 - 54 51 65 A,G; T,T NA NA NA CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACTTGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGCCAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG 37095509 37095679 NA NA NA NA NA NA CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACTTGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGCCAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG CTCACATTTCAGCTTTCTTATTTTAAATGGGGTGATCGTTCAAGTTGACTCTCTGTTTCTTACAGGTTCGCGCCGAAAAGCCACTTTTTTCCTCAAATCCAGAGCTGGACAATTTGGTAAGGCTCTCTGTTCCTTGTTTTTCCCCAGCCTTTGCCCTCTCCCATGCCCAG control 50 12 0 0 0 42 1622 0 0.0211951945887592 0.0105975972943796 0.934895445595715 0.968950989550195 0.80797934155128 0.976293794395113 -0.934895445595715 -0.968950989550195 -0.80797934155128 -0.955098599806354 0.951923217572955 0.892136567973196 -0.951923217572955 -0.881538970678817 0.0703842468941382 TRUE TRUE NA NA NA NA NA MEIS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MEIS2 NA NA NA ENSG00000134138 ENSE00003642793 NA NA NA NA NA NA NA 0.994254955106549 TRUE NA ENSE00001109542_000 ENSE00001109542 000 17 47886436 47886605 + 45 90 35 NA NA NA NA NA ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 NA NA NA NA NA NA AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT natural NA NA NA NA NA 2804 2886 0.771840686811799 0.845439220536623 0.808639953674211 NA NA 0.771840686811799 0.845439220536623 NA NA 0 0 NA 0.808639953674211 NA 0 NA FALSE NA NA NA NA NA NA KAT7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KAT7 NA NA NA ENSG00000136504 ENSE00001109542 NA NA NA NA NA NA NA 0.999956770504954 TRUE NA ENSE00001109542_002 ENSE00001109542 002 17 47886436 47886605 + 45 90 35 G A 47886461 2347 26 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTTAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809098 49809099 49809099 upstr_intron -20 -0.422222222222222 AGTCTTAGAAGCAGGTGGATTTATTAACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 50 69 0.989685208574872 0.999446538364967 0.99456587346992 NA NA 0.771840686811799 0.845439220536623 NA NA 0.217844521763073 0.154007317828344 NA 0.808639953674211 NA 0.185925919795708 NA FALSE NA 1 3.043 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 1 NA TGA G,A 8.236e-06 17:49809099 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 intron_variant 2.347595 0.96549 0.7741 0.295142 0.803109083446247 0.865343 0.999956770504954 TRUE 4.0803e-06 ENSE00001109542_003 ENSE00001109542 003 17 47886436 47886605 + 45 90 35 C T 47886463 2348 28 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACATCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809100 49809101 49809101 upstr_intron -18 -0.377777777777778 AGTCTTAGAAGCAGGTGGATTTATTGATGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 233 287 0.998935409097731 0.99716583132879 0.998050620213261 NA NA 0.771840686811799 0.845439220536623 NA NA 0.227094722285932 0.151726610792167 NA 0.808639953674211 NA 0.18941066653905 NA FALSE NA 0.997 1.068 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 1 NA ACG C,T 1.647e-05 17:49809101 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 intron_variant 1.92968 0.47041 0.40121 0.295142 0.808671692254548 0.330385 0.999956770504954 TRUE 1.63236e-05 ENSE00001109542_005 ENSE00001109542 005 17 47886436 47886605 + 45 90 35 A G 47886471 2350 36 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCACCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809108 49809109 49809109 upstr_intron -10 -0.2 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGGTGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant 55 13 0 0 0 586 1543 0.693158070132972 0.80656958735078 0.749863828741876 NA NA 0.771840686811799 0.845439220536623 NA NA -0.0786826166788269 -0.0388696331858432 NA 0.808639953674211 NA -0.0587761249323351 NA FALSE NA 1 1.594 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 1 NA GAT A,G 1.647e-05 17:49809109 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 intron_variant 2.344043 0.96142 0.74727 0.295142 0.736942949758071 0.345783 0.999956770504954 TRUE 4.07242e-06 ENSE00001109542_006 ENSE00001109542 006 17 47886436 47886605 + 45 90 35 C T 47886496 2351 61 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCAGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809133 49809134 49809134 exon 16 0.177777777777778 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCTGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 138 18 0.792389450724565 0.8 0.796194725362283 NA NA 0.771840686811799 0.845439220536623 NA NA 0.0205487639127658 -0.045439220536623 NA 0.808639953674211 NA -0.0124452283119286 NA FALSE NA 1 5.099 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 1 NA CCG C,T 3.295e-05 17:49809134 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 missense_variant 8.158666 0.98193 0.96407 0.722319 0.999182648590931 0 0.999956770504954 TRUE 1.21887e-05 ENSE00001109542_007 ENSE00001109542 007 17 47886436 47886605 + 45 90 35 A G 47886508 2352 73 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTACCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809145 49809146 49809146 exon 28 0.311111111111111 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGGTAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 317 24 0.811125564228368 0.8 0.805562782114184 NA NA 0.771840686811799 0.845439220536623 NA NA 0.0392848774165687 -0.045439220536623 NA 0.808639953674211 NA -0.00307717156002713 NA FALSE NA 1 3.973 rs141200367 intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 rs141200367 1 G:0.0008 G:0 G:0.0043 NA G:0 G:0.001 G:0 G:0.0007 G:0.0017 GAT A,G 0.00112 17:49809146 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 missense_variant 1.385186 0.97603 0.79651 0.722319 0.989904396669378 0 0.999956770504954 TRUE 0.00115771 ENSE00001109542_009 ENSE00001109542 009 17 47886436 47886605 + 45 90 35 G C 47886518 2354 83 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCGTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809155 49809156 49809156 exon 38 0.422222222222222 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAACGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 195 461 0.827867013230347 0.97702309000832 0.902445051619334 NA NA 0.771840686811799 0.845439220536623 NA NA 0.0560263264185481 0.131583869471697 NA 0.808639953674211 NA 0.0938050979451225 NA FALSE NA 1 8.569 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 rs375058247 1 NA C:0 C:0.0001 AGG G,C 1.647e-05 17:49809156 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 missense_variant 4.17916 0.99253 0.99194 0.722319 0.97802257955184 0 0.999956770504954 TRUE 2.43714e-05 ENSE00001109542_010 ENSE00001109542 010 17 47886436 47886605 + 45 90 35 G A 47886525 2355 90 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGATAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809162 49809163 49809163 exon 45 0.5 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTATCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant 33 19 0 0 0 NA NA NA NA NA NA NA 0.771840686811799 0.845439220536623 NA NA NA NA NA 0.808639953674211 NA NA NA NA NA 1 2.502 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 rs547575711 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGT G,A 8.236e-06 17:49809163 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 synonymous_variant 1.023861 0.97183 0.90708 0.722319 0.754911107757402 0 0.999956770504954 TRUE 4.0622e-06 ENSE00001109542_011 ENSE00001109542 011 17 47886436 47886605 + 45 90 35 C T 47886529 2356 94 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTAAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809166 49809167 49809167 exon -42 0.544444444444444 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTTACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 269 213 0.941506611905802 0.967001661144499 0.954254136525151 NA NA 0.771840686811799 0.845439220536623 NA NA 0.169665925094003 0.121562440607876 NA 0.808639953674211 NA 0.145614182850939 NA FALSE NA 1 6.789 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 rs377599635 1 NA T:0.0002 T:0 TCA C,T 3.295e-05 17:49809167 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 missense_variant 4.293268 0.99199 0.98289 0.722319 0.818558363351893 0 0.999956770504954 TRUE 2.03113e-05 ENSE00001109542_012 ENSE00001109542 012 17 47886436 47886605 + 45 90 35 T A 47886540 2357 105 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCTTCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809177 49809178 49809178 exon -31 0.666666666666667 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGAAGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 428 106 1 0.998505052978649 0.999252526489324 NA NA 0.771840686811799 0.845439220536623 NA NA 0.228159313188201 0.153065832442026 NA 0.808639953674211 NA 0.190612572815113 NA FALSE NA 1 0.801 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 1 NA ATG T,A 8.236e-06 17:49809178 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 missense_variant 1.551183 0.97123 0.89024 0.722319 0.941077927912155 0 0.999956770504954 TRUE 4.0622e-06 ENSE00001109542_013 ENSE00001109542 013 17 47886436 47886605 + 45 90 35 C T 47886549 2358 114 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTATTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809186 49809187 49809187 exon -22 0.766666666666667 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAATAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant 60 95 0 0 0 NA NA NA NA NA NA NA 0.771840686811799 0.845439220536623 NA NA NA NA NA 0.808639953674211 NA NA NA NA NA 1 1.691 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 1 NA ACA C,T 8.236e-06 17:49809187 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 synonymous_variant 1.581411 0.96957 0.85368 0.722319 0.612846033323732 0 0.999956770504954 TRUE 8.12552e-06 ENSE00001109542_015 ENSE00001109542 015 17 47886436 47886605 + 45 90 35 C T 47886561 2360 126 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGTGCCTAGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809198 49809199 49809199 exon -10 0.9 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACTAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 19 87 1 0.950752361250847 0.975376180625423 NA NA 0.771840686811799 0.845439220536623 NA NA 0.228159313188201 0.105313140714224 NA 0.808639953674211 NA 0.166736226951212 NA FALSE NA 1 3.066 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 rs370241626 1 NA T:0 T:0.0001 CCA C,T 0.0001565 17:49809199 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 synonymous_variant 1.857892 0.97721 0.86479 0.722319 0.709015109517923 0 0.999956770504954 TRUE 8.94018e-05 ENSE00001109542_016 ENSE00001109542 016 17 47886436 47886605 + 45 90 35 A T 47886566 2361 131 ACTATGAATGGCCAGTGCTTTAACAAGGCCCATACCTGGAGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809203 49809204 49809204 exon -5 0.955555555555556 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCTCCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 46 16 0.867868262513899 0.95 0.90893413125695 NA NA 0.771840686811799 0.845439220536623 NA NA 0.0960275757021 0.104560779463377 NA 0.808639953674211 NA 0.100294177582738 NA FALSE NA 1 6.366 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 1 NA CAC A,T 8.236e-06 17:49809204 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 missense_variant 2.660902 0.98311 0.97343 0.722319 0.969178672637924 0 0.999956770504954 TRUE 8.1281e-06 ENSE00001109542_018 ENSE00001109542 018 17 47886436 47886605 + 45 90 35 A G 47886585 2363 150 ACTATGAATGGCCAGTGCTTCAACAAGGCCCATACCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACCTGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 49809222 49809223 49809223 downstr_intron 15 1.44117647058824 AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTGAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT mutant NA NA NA NA NA 746 759 0.980509101459217 0.975685402823644 0.978097252141431 NA NA 0.771840686811799 0.845439220536623 NA NA 0.208668414647418 0.130246182287021 NA 0.808639953674211 NA 0.16945729846722 NA FALSE NA 0.522 1.197 . intron_variant MODIFIER KAT7 HGNC 17016 ENST00000510819 3/11 1 NA TAA A,G 1.647e-05 17:49809223 KAT7 HGNC Symbol protein_coding 46475 ENSG00000136504 ENSE00001109542 intron_variant 1.86362 0.89717 0.62931 0.062308 0.820507455330573 0.272809 0.999956770504954 TRUE 9.37559e-05 ENSE00001109542_BRK ENSE00001109542 BRK 17 47886436 47886605 + 45 90 35 A,G; T,T NA NA NA ACTATGAATGGCCAGTGCTTTAACAAGGCCCATGGCTGGTGCCTGGTTGCATGCCTGTTGTTGTCATCTTGCCTGTGAGACAGCATCCTTTCTTCTATCTGCTTATCCCGGCTCTGTGCTCTCACAAGCAACCATCAACAACGTCAATAAATCCACCTGCTTCTAAGACT 49809073 49809243 NA NA NA NA NA NA AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCTTGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGCCATGGGCCTTGTTAAAGCACTGGCCATTCATAGT AGTCTTAGAAGCAGGTGGATTTATTGACGTTGTTGATGGTTGCAGGTGAGAGCACAGAGCCGGGATAAGCAGATAGAAGAAAGGATGCTGTCTCACAGGCAAGATGACAACAACAGGCATGCAACCAGGCACCAGGTATGGGCCTTGTTAAAGCACTGGCCATTCATAGT control 31 63 0 0 0 853 68 0.0118855734004934 0 0.00594278670024668 NA NA 0.771840686811799 0.845439220536623 NA NA -0.759955113411306 -0.845439220536623 NA 0.808639953674211 NA -0.802697166973964 NA TRUE NA NA NA NA NA NA KAT7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KAT7 NA NA NA ENSG00000136504 ENSE00001109542 NA NA NA NA NA NA NA 0.999956770504954 TRUE NA ENSE00001110285_000 ENSE00001110285 000 20 34219378 34219547 - 36 87 47 NA NA NA NA NA TCATCTGCCACCTGGCTTGTTTATGTCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTGACGGGTCACATGATCTCATCGGTACCTTCCACACCAGCTTGGCCCAGCTGCAGGCAGTCCCGGTGAGTGCTGGTCTTGCCAGGGGTGTGGAAATGGGC 35631455 35631625 NA NA NA NA NA NA TCATCTGCCACCTGGCTTGTTTATGTCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTGACGGGTCACATGATCTCATCGGTACCTTCCACACCAGCTTGGCCCAGCTGCAGGCAGTCCCGGTGAGTGCTGGTCTTGCCAGGGGTGTGGAAATGGGC TCATCTGCCACCTGGCTTGTTTATGTCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTGACGGGTCACATGATCTCATCGGTACCTTCCACACCAGCTTGGCCCAGCTGCAGGCAGTCCCGGTGAGTGCTGGTCTTGCCAGGGGTGTGGAAATGGGC natural NA NA NA NA NA 966 1688 0.822438239811176 0.837792324875514 0.830115282343345 NA NA 0.822438239811176 0.837792324875514 NA NA 0 0 NA 0.830115282343345 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003692205 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001110292_000 ENSE00001110292 000 20 34219154 34219323 - 36 87 47 NA NA NA NA NA GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 NA NA NA NA NA NA ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC natural NA NA NA NA NA 3493 3499 0.985693716147626 0.890985708209245 0.938339712178436 NA NA 0.985693716147626 0.890985708209245 NA NA 0 0 NA 0.938339712178436 NA 0 NA FALSE NA NA NA NA NA NA CPNE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE1 NA NA NA ENSG00000214078 ENSE00003633735 NA NA NA NA NA NA NA 3.87095095726686e-07 FALSE NA ENSE00001110292_006 ENSE00001110292 006 20 34219154 34219323 - 36 87 47 T C 34219198 806 126 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAACCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 35631275 35631276 35631276 exon -9 0.908045977011494 ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGGTTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 74 331 1 0.999423044338894 0.999711522169447 NA NA 0.985693716147626 0.890985708209245 NA NA 0.0143062838523736 0.108437336129648 NA 0.938339712178436 NA 0.0613718099910109 NA FALSE NA 0.851 0.262 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 1 NA ATC T,C 8.236e-06 20:35631276 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 missense_variant -0.952897 0.3528 0.28158 0.706548 0.708129929576618 0 3.87095095726686e-07 FALSE 4.06062e-06 ENSE00001110292_008 ENSE00001110292 008 20 34219154 34219323 - 36 87 47 G A 34219207 808 117 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACAGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 35631284 35631285 35631285 exon -18 0.804597701149425 ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCTGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 1209 905 0.879756746596723 0.997605143478415 0.938680945037569 NA NA 0.985693716147626 0.890985708209245 NA NA -0.105936969550904 0.10661943526917 NA 0.938339712178436 NA 0.000341232859133067 NA FALSE NA 0 -0.541 rs34136956 upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 rs34136956 1 A:0.0040 A:0.0144 A:0.0014 NA A:0 A:0 A:0 A:0.0107 A:0 CGG G,A 0.001104 20:35631285 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 missense_variant -0.145148 0.18197 0.01743 0.706548 0.57733130911877 0 3.87095095726686e-07 FALSE 0.000893343 ENSE00001110292_009 ENSE00001110292 009 20 34219154 34219323 - 36 87 47 T C 34219213 809 111 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGCTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 35631290 35631291 35631291 exon -24 0.735632183908046 ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAGCTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 872 12 0.998240609788489 1 0.999120304894245 NA NA 0.985693716147626 0.890985708209245 NA NA 0.0125468936408629 0.109014291790755 NA 0.938339712178436 NA 0.0607805927158087 NA FALSE NA 0.998 2.154 rs149512897 upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 rs149512897 1 NA C:0.0011 C:0 GTT T,C 5.765e-05 20:35631291 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 missense_variant 0.733014 0.9556 0.39654 0.706548 0.962780589977388 0 3.87095095726686e-07 FALSE 2.84243e-05 ENSE00001110292_010 ENSE00001110292 010 20 34219154 34219323 - 36 87 47 T A 34219249 810 75 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTACTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 35631326 35631327 35631327 exon 28 0.32183908045977 ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGTAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 112 48 0.430484487709075 0.269622708193882 0.350053597951479 NA NA 0.985693716147626 0.890985708209245 NA NA -0.555209228438551 -0.621363000015363 NA 0.938339712178436 NA -0.588286114226957 NA TRUE NA 1 3.472 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 rs373498616 1 NA A:0.0002 A:0 TTC T,A 8.236e-06 20:35631327 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 stop_gained 11.282483 0.99261 0.97302 0.706548 0.9966987470304 0 3.87095095726686e-07 FALSE 4.06068e-06 ENSE00001110292_012 ENSE00001110292 012 20 34219154 34219323 - 36 87 47 A G 34219253 812 71 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCGGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 35631330 35631331 35631331 exon 24 0.275862068965517 ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCCGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 73 173 0.940464391852206 0.989194599214669 0.964829495533437 NA NA 0.985693716147626 0.890985708209245 NA NA -0.0452293242954201 0.0982088910054232 NA 0.938339712178436 NA 0.0264897833550015 NA FALSE NA 0.933 -0.059 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 1 NA CAG A,G 1.647e-05 20:35631331 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 synonymous_variant 0.280165 0.97843 0.72438 0.706548 0.822976052958326 0 3.87095095726686e-07 FALSE 1.21822e-05 ENSE00001110292_013 ENSE00001110292 013 20 34219154 34219323 - 36 87 47 G A 34219256 813 68 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGATGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 35631333 35631334 35631334 exon 21 0.241379310344828 ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCATCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 519 1711 1 0.999105310087705 0.999552655043853 NA NA 0.985693716147626 0.890985708209245 NA NA 0.0143062838523736 0.10811960187846 NA 0.938339712178436 NA 0.0612129428654167 NA FALSE NA 1 1.499 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 1 NA GGT G,A 2.471e-05 20:35631334 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 synonymous_variant 0.047506 0.97068 0.91073 0.706548 0.810244560879516 0 3.87095095726686e-07 FALSE 2.03039e-05 ENSE00001110292_015 ENSE00001110292 015 20 34219154 34219323 - 36 87 47 A C 34219288 815 36 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACCGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 35631365 35631366 35631366 upstr_intron -12 -0.234042553191489 ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCGGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 667 1137 0.99320534565218 0.998171820219214 0.995688582935697 NA NA 0.985693716147626 0.890985708209245 NA NA 0.0075116295045532 0.107186112009969 NA 0.938339712178436 NA 0.057348870757261 NA FALSE NA 0.956 1.782 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 1 NA CAG A,C 2.471e-05 20:35631366 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 intron_variant 1.033166 0.82843 0.95003 0.099367 0.796322253955615 0.25495 3.87095095726686e-07 FALSE 1.21845e-05 ENSE00001110292_016 ENSE00001110292 016 20 34219154 34219323 - 36 87 47 G T 34219303 816 21 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTATGAAATTCTCAGAGCATCAGT 35631231 35631401 35631380 35631381 35631381 upstr_intron -27 -0.553191489361702 ACTGATGCTCTGAGAATTTCATACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 620 191 0.998126495682138 0.999171073168614 0.998648784425376 NA NA 0.985693716147626 0.890985708209245 NA NA 0.0124327795345114 0.108185364959369 NA 0.938339712178436 NA 0.06030907224694 NA FALSE NA 0 0.045 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 1 NA AGG G,T 1.647e-05 20:35631381 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 intron_variant -0.431025 0.35529 0.34318 0.099367 0.652965502975987 0.0866504 3.87095095726686e-07 FALSE 1.62479e-05 ENSE00001110292_017 ENSE00001110292 017 20 34219154 34219323 - 36 87 47 G A 34219304 817 20 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGAAAATTCTCAGAGCATCAGT 35631231 35631401 35631381 35631382 35631382 upstr_intron -28 -0.574468085106383 ACTGATGCTCTGAGAATTTTCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 59 947 1 0.999665846890606 0.999832923445303 NA NA 0.985693716147626 0.890985708209245 NA NA 0.0143062838523736 0.10868013868136 NA 0.938339712178436 NA 0.061493211266867 NA FALSE NA 0 -0.227 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 1 NA GGA G,A 1.647e-05 20:35631382 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 intron_variant -0.525911 0.22171 0.01492 0.099367 0.572232758300679 0.0866504 3.87095095726686e-07 FALSE 1.21859e-05 ENSE00001110292_018 ENSE00001110292 018 20 34219154 34219323 - 36 87 47 A G 34219305 818 19 GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCACCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCCTGGTGAGGACAGAAAAATTAGGGTAGGGAATTCTCAGAGCATCAGT 35631231 35631401 35631382 35631383 35631383 upstr_intron -29 -0.595744680851064 ACTGATGCTCTGAGAATTCCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC mutant NA NA NA NA NA 286 469 0.992877131357387 0.994458194806912 0.99366766308215 NA NA 0.985693716147626 0.890985708209245 NA NA 0.00718341520976096 0.103472486597667 NA 0.938339712178436 NA 0.055327950903714 NA FALSE NA 0.004 0.114 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 1 NA GAA A,G 0.000173 20:35631383 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003633735 intron_variant -0.216671 0.2466 0.11147 0.099367 0.637412996239313 0.0866504 3.87095095726686e-07 FALSE 0.000129988 ENSE00001110292_BRK ENSE00001110292 BRK 20 34219154 34219323 - 36 87 47 A,G; T,T NA NA NA GAATCAGAGCCTTGGTTACATGGGCTTTTGTCTCGGCCGACAAATCTTGACACGGATAGTTCCAGAGTTCTTGTAGCTTTTCTTTTTCTGCTGCTTCTCAGGGTGGATGCATTCAAACTCAGCAAGGTGAGGACAGAAAAATTAGGGTAGGAAATTCTCAGAGCATCAGT 35631231 35631401 NA NA NA NA NA NA ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCTTGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGCCGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC ACTGATGCTCTGAGAATTTCCTACCCTAATTTTTCTGTCCTCACCAGGCTGAGTTTGAATGCATCCACCCTGAGAAGCAGCAGAAAAAGAAAAGCTACAAGAACTCTGGAACTATCCGTGTCAAGATTTGTCGGGTGAGACAAAAGCCCATGTAACCAAGGCTCTGATTC control NA NA NA NA NA 416 200 0.00743992759618223 0.0585504002215696 0.0329951639088759 NA NA 0.985693716147626 0.890985708209245 NA NA -0.978253788551444 -0.832435307987676 NA 0.938339712178436 NA -0.90534454826956 NA TRUE NA NA NA NA NA NA CPNE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE1 NA NA NA ENSG00000214078 ENSE00003633735 NA NA NA NA NA NA NA 3.87095095726686e-07 FALSE NA ENSE00001110723_000 ENSE00001110723 000 15 74574065 74574234 + 54 72 44 NA NA NA NA NA GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 NA NA NA NA NA NA GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG natural 58 56 0.98102260246807 0.991467018603973 0.986244810536022 880 1824 0.908729979119281 0.99745452754856 0.953092253333921 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 0 0 0 0 0.986244810536022 0.953092253333921 0 0 0 FALSE FALSE NA NA NA NA NA CCDC33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC33 NA NA NA ENSG00000140481 ENSE00001110723 NA NA NA NA NA NA NA 8.63487200520327e-09 FALSE NA ENSE00001110723_001 ENSE00001110723 001 15 74574065 74574234 + 54 72 44 C T 74574088 1838 24 GAGGCGGAAGCTGCCCTGGCCAGTATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281746 74281747 74281747 upstr_intron -31 -0.555555555555556 GAGGCGGAAGCTGCCCTGGCCAGTATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 989 395 0.995157588684358 0.992324969583474 0.993741279133916 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.0864276095650764 -0.00512955796508607 0.986244810536022 0.953092253333921 NA 0.0406490257999952 NA FALSE NA 0 -2.678 . intron_variant MODIFIER CCDC33 HGNC 26552 ENST00000321288 11/21 1 NA GCA C,T 1.654e-05 15:74281747 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 intron_variant 0.112119 0.08637 0.00403 0.06567 0.777612033275388 0.106537 8.63487200520327e-09 FALSE 1.22632e-05 ENSE00001110723_002 ENSE00001110723 002 15 74574065 74574234 + 54 72 44 A G 74574134 1839 70 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAGCTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281792 74281793 74281793 exon 16 0.222222222222222 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAGCTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 538 24 1 1 1 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.0912700208807186 0.00254547245143977 0.986244810536022 0.953092253333921 NA 0.0469077466660792 NA FALSE NA 1 2.996 . missense_variant MODERATE CCDC33 HGNC 26552 ENST00000321288 12/22 1 possibly_damaging(0.823) NA AAC A,G 4.964e-05 15:74281793 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 missense_variant 3.48948 0.98311 0.89276 0.497415 0.980202712513494 0 8.63487200520327e-09 FALSE 2.43968e-05 ENSE00001110723_004 ENSE00001110723 004 15 74574065 74574234 + 54 72 44 G A 74574158 1841 94 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAATGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281816 74281817 74281817 exon -33 0.555555555555556 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAATGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 17 96 1 1 1 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.0912700208807186 0.00254547245143977 0.986244810536022 0.953092253333921 NA 0.0469077466660792 NA FALSE NA 0.992 2.321 . missense_variant MODERATE CCDC33 HGNC 26552 ENST00000321288 12/22 rs373900085 1 possibly_damaging(0.519) NA AGT G,A 4.964e-05 15:74281817 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 missense_variant 4.551397 0.89404 0.75241 0.497415 0.994329131727621 0 8.63487200520327e-09 FALSE 5.69004e-05 ENSE00001110723_005 ENSE00001110723 005 15 74574065 74574234 + 54 72 44 G T 74574161 1842 97 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGTCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281819 74281820 74281820 exon -30 0.597222222222222 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGTCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 130 154 1 1 1 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.0912700208807186 0.00254547245143977 0.986244810536022 0.953092253333921 NA 0.0469077466660792 NA FALSE NA 0.944 0.362 . missense_variant MODERATE CCDC33 HGNC 26552 ENST00000321288 12/22 1 benign(0) NA GGC G,T 3.309e-05 15:74281820 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 missense_variant 1.500126 0.80841 0.52676 0.497415 0.935929494682531 0 8.63487200520327e-09 FALSE 2.84541e-05 ENSE00001110723_006 ENSE00001110723 006 15 74574065 74574234 + 54 72 44 T A 74574180 1843 116 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCATTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281838 74281839 74281839 exon -11 0.861111111111111 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCATTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 80 36 0.974772146112242 1 0.987386073056121 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.0660421669929611 0.00254547245143977 0.986244810536022 0.953092253333921 NA 0.0342938197222004 NA FALSE NA 0.783 0.334 . missense_variant MODERATE CCDC33 HGNC 26552 ENST00000321288 12/22 1 benign(0.022) NA CTT T,A 8.272e-06 15:74281839 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 missense_variant 3.44933 0.97037 0.66488 0.497415 0.95576786847207 0 8.63487200520327e-09 FALSE 4.06517e-06 ENSE00001110723_008 ENSE00001110723 008 15 74574065 74574234 + 54 72 44 G A 74574199 1845 135 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTATGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281857 74281858 74281858 downstr_intron 9 1.2093023255814 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTATGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 202 138 0.967738091052669 1 0.983869045526335 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.059008111933388 0.00254547245143977 0.986244810536022 0.953092253333921 NA 0.0307767921924139 NA FALSE NA 0 -0.315 . intron_variant MODIFIER CCDC33 HGNC 26552 ENST00000321288 12/21 1 NA TGT G,A 8.27e-06 15:74281858 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 intron_variant 0.027179 0.16852 0.03344 0.06567 0.411647121650236 0.0476271 8.63487200520327e-09 FALSE 8.142e-06 ENSE00001110723_009 ENSE00001110723 009 15 74574065 74574234 + 54 72 44 G C 74574208 1846 144 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGCGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281866 74281867 74281867 downstr_intron 18 1.41860465116279 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGCGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant 11 21 0.85 0.85 0.85 555 263 0.984328193909272 0.966983841158946 0.975656017534109 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 -0.13102260246807 -0.141467018603973 0.0755982147899905 -0.0304706863896139 0.986244810536022 0.953092253333921 -0.136244810536021 0.0225637642001883 0.15880857473621 FALSE FALSE 0.001 1.161 rs74897549 intron_variant MODIFIER CCDC33 HGNC 26552 ENST00000321288 12/21 rs74897549 1 C:0.0208 C:0.0779 C:0.0014 NA C:0 C:0 C:0 C:0.0604 C:0.0002 GGG G,C 0.005822 15:74281867 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 intron_variant -0.232299 0.21794 0.17964 0.06567 0.372387189720792 0.0408531 8.63487200520327e-09 FALSE 0.00489544 ENSE00001110723_010 ENSE00001110723 010 15 74574065 74574234 + 54 72 44 G A 74574209 1847 145 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGAGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281867 74281868 74281868 downstr_intron 19 1.44186046511628 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGAGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant 82 131 0.85 0.85 0.85 151 248 0.972238874203112 0.95 0.961119437101556 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 -0.13102260246807 -0.141467018603973 0.0635088950838304 -0.0474545275485603 0.986244810536022 0.953092253333921 -0.136244810536021 0.00802718376763506 0.144271994303657 FALSE FALSE 0 0.027 rs76067713 intron_variant MODIFIER CCDC33 HGNC 26552 ENST00000321288 12/21 rs76067713 1 NA GGG G,A 8.27e-06 15:74281868 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 intron_variant -0.115053 0.2125 0.07108 0.06567 0.219667655535114 0.0408531 8.63487200520327e-09 FALSE 8.15794e-06 ENSE00001110723_011 ENSE00001110723 011 15 74574065 74574234 + 54 72 44 G T 74574210 1848 146 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGTAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281868 74281869 74281869 downstr_intron 20 1.46511627906977 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGTAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 349 533 0.979851049437306 0.986701469548495 0.983276259492901 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.0711210703180251 -0.0107530580000651 0.986244810536022 0.953092253333921 NA 0.03018400615898 NA FALSE NA 0 -0.061 . intron_variant MODIFIER CCDC33 HGNC 26552 ENST00000321288 12/21 rs375094332 1 NA T:0 T:0.0001 GGA G,T 8.27e-06 15:74281869 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 intron_variant -0.111906 0.2145 0.07949 0.06567 0.419882413999843 0.0408531 8.63487200520327e-09 FALSE NA ENSE00001110723_012 ENSE00001110723 012 15 74574065 74574234 + 54 72 44 G A 74574213 1849 149 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGAGTCAGGGCCAGCAGGCACATG 74281723 74281893 74281871 74281872 74281872 downstr_intron 23 1.53488372093023 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGAGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 1486 22 0.943632994484368 0.862873092810525 0.903253043647447 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.0349030153650864 -0.134581434738035 0.986244810536022 0.953092253333921 NA -0.0498392096864743 NA FALSE NA 0 0.31 . intron_variant MODIFIER CCDC33 HGNC 26552 ENST00000321288 12/21 1 NA GGG G,A 1.654e-05 15:74281872 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 intron_variant 0.386105 0.18856 0.04163 0.06567 0.631235369620122 0.0408531 8.63487200520327e-09 FALSE 1.22479e-05 ENSE00001110723_014 ENSE00001110723 014 15 74574065 74574234 + 54 72 44 C T 74574221 1851 157 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGTCAGCAGGCACATG 74281723 74281893 74281879 74281880 74281880 downstr_intron 31 1.72093023255814 GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGTCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG mutant NA NA NA NA NA 239 610 0.974867970066512 0.994778883415163 0.984823426740837 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 NA NA 0.0661379909472303 -0.0026756441333976 0.986244810536022 0.953092253333921 NA 0.0317311734069163 NA FALSE NA 0 -1.138 . intron_variant MODIFIER CCDC33 HGNC 26552 ENST00000321288 12/21 rs199673709 1 NA GCC C,T 0.0001819 15:74281880 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00001110723 intron_variant 0.171059 0.16058 0.02541 0.06567 0.3301877895609 0.0408531 8.63487200520327e-09 FALSE 0.000139375 ENSE00001110723_BRK ENSE00001110723 BRK 15 74574065 74574234 + 54 72 44 A,G; T,T NA NA NA GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCTTGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGCCAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG 74281723 74281893 NA NA NA NA NA NA GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCTTGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGCCAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG GAGGCGGAAGCTGCCCTGGCCAGCATGGTCTGAGTGCTCCCTTTTCCTCCCCAGGACACCAGCCTGAAAACTATCAATGATGAGGCCCCCACAGTGGCTCTCTCCTTCCAGCTGCTTTCCTCTGAGGTAAGGCTGTGGGCCAGGGGAGGGTCAGGGCCAGCAGGCACATG control 25 86 0 0 0 NA NA NA NA NA 0.98102260246807 0.991467018603973 0.908729979119281 0.99745452754856 -0.98102260246807 -0.991467018603973 NA NA 0.986244810536022 0.953092253333921 -0.986244810536022 NA NA NA TRUE NA NA NA NA NA CCDC33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC33 NA NA NA ENSG00000140481 ENSE00001110723 NA NA NA NA NA NA NA 8.63487200520327e-09 FALSE NA ENSE00001111166_000 ENSE00001111166 000 17 35348025 35348194 + 48 84 38 NA NA NA NA NA AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 NA NA NA NA NA NA AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT natural 28 28 0.999700399209029 0.994740557367246 0.997220478288138 3223 2473 0.920533960117284 0.788745504161957 0.854639732139621 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 0 0 0 0 0.997220478288138 0.854639732139621 0 0 0 FALSE FALSE NA NA NA NA NA AATF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AATF NA NA NA ENSG00000275700 ENSE00003719458 NA NA NA NA NA NA NA 1.62332337375335e-07 FALSE NA ENSE00001111166_001 ENSE00001111166 001 17 35348025 35348194 + 48 84 38 T C 35348036 1521 12 AGATAGCCTTGCTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990736 36990737 36990737 upstr_intron -37 -0.75 AGATAGCCTTGCTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 151 174 1 0.99908998855684 0.99954499427842 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.210344484394883 0.997220478288138 0.854639732139621 NA 0.144905262138799 NA FALSE NA 0 -0.853 rs185077995 intron_variant MODIFIER AATF HGNC 19235 ENST00000589579 2/4 rs185077995 1 C:0.0020 C:0.0076 C:0 NA C:0 C:0 C:0 C:0.0089 C:0 GTT T,C 0.000766 17:36990737 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant -0.171255 0.11996 0.01897 0.156188 0.442975288593263 0.0518458 1.62332337375335e-07 FALSE 0.000567319 ENSE00001111166_003 ENSE00001111166 003 17 35348025 35348194 + 48 84 38 G A 35348040 1523 16 AGATAGCCTTGTTGGAATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990740 36990741 36990741 upstr_intron -33 -0.666666666666667 AGATAGCCTTGTTGGAATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 180 289 0.979557064362497 1 0.989778532181248 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0590231042452126 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.135138800041628 NA FALSE NA 0 -0.303 . intron_variant MODIFIER AATF HGNC 19235 ENST00000589579 2/4 1 NA GGA G,A 8.237e-06 17:36990741 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant -0.078704 0.20043 0.06659 0.156188 0.263871064844984 0.0518458 1.62332337375335e-07 FALSE 4.66866e-06 ENSE00001111166_004 ENSE00001111166 004 17 35348025 35348194 + 48 84 38 T C 35348055 1524 31 AGATAGCCTTGTTGGGATTCACTCTTTTCTCACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990755 36990756 36990756 upstr_intron -18 -0.354166666666667 AGATAGCCTTGTTGGGATTCACTCTTTTCTCACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 178 543 1 1 1 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.145360267860379 NA FALSE NA 0 0.047 . intron_variant MODIFIER AATF HGNC 19235 ENST00000589579 2/4 1 NA TTA T,C 8.236e-06 17:36990756 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant 0.068153 0.24793 0.1304 0.295142 0.739709788917834 0.0510595 1.62332337375335e-07 FALSE NA ENSE00001111166_005 ENSE00001111166 005 17 35348025 35348194 + 48 84 38 C T 35348057 1525 33 AGATAGCCTTGTTGGGATTCACTCTTTTCTTATTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990757 36990758 36990758 upstr_intron -16 -0.3125 AGATAGCCTTGTTGGGATTCACTCTTTTCTTATTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 289 1435 0.999857513976663 0.999681119282177 0.99976931662942 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0793235538593791 0.210935615120219 0.997220478288138 0.854639732139621 NA 0.145129584489799 NA FALSE NA 0 -0.662 . intron_variant MODIFIER AATF HGNC 19235 ENST00000589579 2/4 1 NA ACT C,T 8.236e-06 17:36990758 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant 0.095386 0.17834 0.01401 0.295142 0.488252223886177 0.0510595 1.62332337375335e-07 FALSE 4.58182e-06 ENSE00001111166_006 ENSE00001111166 006 17 35348025 35348194 + 48 84 38 T C 35348061 1526 37 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCACTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990761 36990762 36990762 upstr_intron -12 -0.229166666666667 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCACTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 214 21 1 1 1 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.145360267860379 NA FALSE NA 0 0.087 . intron_variant MODIFIER AATF HGNC 19235 ENST00000589579 2/4 1 NA ATT T,C 8.237e-06 17:36990762 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant -0.188919 0.2181 0.0767 0.295142 0.465502166795614 0.0907973 1.62332337375335e-07 FALSE 4.52841e-06 ENSE00001111166_007 ENSE00001111166 007 17 35348025 35348194 + 48 84 38 A G 35348069 1527 45 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACGTAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990769 36990770 36990770 upstr_intron -4 -0.0625 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACGTAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 490 963 1 0.999960471348725 0.999980235674363 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.211214967186768 0.997220478288138 0.854639732139621 NA 0.145340503534742 NA FALSE NA 0 -0.354 . splice_region_variant&intron_variant LOW AATF HGNC 19235 ENST00000589579 2/4 rs375965289 1 NA G:0.0005 G:0 CAT A,G 1.647e-05 17:36990770 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 splice_region_variant -0.287719 0.17548 0.03173 0.295142 0.445643022760672 0.0510595 1.62332337375335e-07 FALSE 4.48704e-06 ENSE00001111166_008 ENSE00001111166 008 17 35348025 35348194 + 48 84 38 C G 35348078 1528 54 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATGCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990778 36990779 36990779 exon 6 0.0714285714285714 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATGCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 311 508 1 1 1 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.145360267860379 NA FALSE NA 0.001 -0.637 . missense_variant MODERATE AATF HGNC 19235 ENST00000589579 3/5 1 tolerated(0.24) benign(0.017) NA TCC C,G 8.236e-06 17:36990779 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 missense_variant 0.561688 0.79656 0.12321 0.706548 0.90973914412044 0 1.62332337375335e-07 FALSE NA ENSE00001111166_011 ENSE00001111166 011 17 35348025 35348194 + 48 84 38 T C 35348102 1531 78 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCCCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990802 36990803 36990803 exon 30 0.357142857142857 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCCCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 797 431 1 0.98439790793631 0.992198953968155 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.195652403774353 0.997220478288138 0.854639732139621 NA 0.137559221828534 NA FALSE NA 0.921 -0.006 . synonymous_variant LOW AATF HGNC 19235 ENST00000589579 3/5 rs372723663 1 NA C:0 C:0.0001 CTC T,C 1.647e-05 17:36990803 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 synonymous_variant 0.515474 0.96414 0.72554 0.706548 0.697390873225543 0 1.62332337375335e-07 FALSE NA ENSE00001111166_013 ENSE00001111166 013 17 35348025 35348194 + 48 84 38 A G 35348119 1533 95 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGGTGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990819 36990820 36990820 exon -38 0.55952380952381 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGGTGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 28 115 1 0.999335384280662 0.999667692140331 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.210589880118704 0.997220478288138 0.854639732139621 NA 0.14502796000071 NA FALSE NA 1 8.646 . missense_variant MODERATE AATF HGNC 19235 ENST00000589579 3/5 rs374750024 1 deleterious(0) probably_damaging(0.971) NA G:0 G:0.0001 GAT A,G 8.236e-06 17:36990820 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 missense_variant 6.939171 0.99236 0.9939 0.706548 0.9978194426357 0 1.62332337375335e-07 FALSE NA ENSE00001111166_015 ENSE00001111166 015 17 35348025 35348194 + 48 84 38 A T 35348134 1535 110 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGTTGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990834 36990835 36990835 exon -23 0.738095238095238 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGTTGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 162 229 1 1 1 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.145360267860379 NA FALSE NA 1 8.646 . missense_variant MODERATE AATF HGNC 19235 ENST00000589579 3/5 1 deleterious(0) probably_damaging(0.999) NA GAT A,T 4.942e-05 17:36990835 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 missense_variant 6.712274 0.99224 0.99394 0.706548 0.994696632057539 0 1.62332337375335e-07 FALSE 2.67377e-05 ENSE00001111166_016 ENSE00001111166 016 17 35348025 35348194 + 48 84 38 A G 35348137 1536 113 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGGTGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990837 36990838 36990838 exon -20 0.773809523809524 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGGTGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 30 468 0.967849040856637 0.995484390864227 0.981666715860432 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0473150807393524 0.20673888670227 0.997220478288138 0.854639732139621 NA 0.127026983720811 NA FALSE NA 1 8.646 . missense_variant MODERATE AATF HGNC 19235 ENST00000589579 3/5 COSM4065740 1 deleterious(0) probably_damaging(1) NA GAT A,G 8.236e-06 17:36990838 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 missense_variant 7.160254 0.99223 0.99382 0.706548 0.99870137734652 0 1.62332337375335e-07 FALSE NA ENSE00001111166_017 ENSE00001111166 017 17 35348025 35348194 + 48 84 38 A G 35348155 1537 131 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCGGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990855 36990856 36990856 exon -2 0.988095238095238 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCGGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 2592 799 0.997256528882138 1 0.998628264441069 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0767225687648541 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.143988532301448 NA FALSE NA 1 8.445 . missense_variant&splice_region_variant MODERATE AATF HGNC 19235 ENST00000589579 3/5 1 deleterious(0.02) probably_damaging(0.996) NA CAG A,G 8.236e-06 17:36990856 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 missense_variant 5.684854 0.99223 0.99706 0.706548 0.998300858292524 0 1.62332337375335e-07 FALSE 4.70212e-06 ENSE00001111166_019 ENSE00001111166 019 17 35348025 35348194 + 48 84 38 T A 35348167 1539 143 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTAACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990867 36990868 36990868 downstr_intron 11 1.2972972972973 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTAACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 109 51 1 1 1 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.145360267860379 NA FALSE NA 0.578 0.444 . intron_variant MODIFIER AATF HGNC 19235 ENST00000589579 3/4 1 NA TTA T,A 1.647e-05 17:36990868 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant 1.04412 0.22499 0.36282 0.099367 0.723773829553503 0.0606269 1.62332337375335e-07 FALSE 9.96641e-06 ENSE00001111166_020 ENSE00001111166 020 17 35348025 35348194 + 48 84 38 T A 35348172 1540 148 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACACTCTTGTTACAAATCATGTTTT 36990725 36990895 36990872 36990873 36990873 downstr_intron 16 1.43243243243243 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACACTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 47 72 1 1 1 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0794660398827157 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.145360267860379 NA FALSE NA 0.111 2.65 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:36990873 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant 1.192971 0.22073 0.80023 0.099367 0.752184089720115 0.0526402 1.62332337375335e-07 FALSE 5.25574e-06 ENSE00001111166_021 ENSE00001111166 021 17 35348025 35348194 + 48 84 38 T G 35348172 1541 148 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACGCTCTTGTTACAAATCATGTTTT 36990725 36990895 36990872 36990873 36990873 downstr_intron 16 1.43243243243243 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACGCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 159 1489 0.926267130374823 0.999277498794383 0.962772314584603 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.00573317025753839 0.210531994632426 0.997220478288138 0.854639732139621 NA 0.108132582444982 NA FALSE NA 0.111 2.65 NA NA NA AATF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AATF NA NA NA ENSG00000275700 ENSE00003719458 intron_variant 0.930937 0.22687 0.81541 0.099367 0.746145581623858 0.0526402 1.62332337375335e-07 FALSE NA ENSE00001111166_022 ENSE00001111166 022 17 35348025 35348194 + 48 84 38 C T 35348173 1542 149 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTTTCTTGTTACAAATCATGTTTT 36990725 36990895 36990873 36990874 36990874 downstr_intron 17 1.45945945945946 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTTTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 1067 61 0.998992860681762 1 0.999496430340881 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0784589005644776 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.14485669820126 NA FALSE NA 0 0.422 . intron_variant MODIFIER AATF HGNC 19235 ENST00000589579 3/4 1 NA TCT C,T 6.589e-05 17:36990874 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant 0.84244 0.32644 0.32063 0.099367 0.563294908214372 0.0526402 1.62332337375335e-07 FALSE 5.39398e-05 ENSE00001111166_023 ENSE00001111166 023 17 35348025 35348194 + 48 84 38 G C 35348178 1543 154 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTCTTACAAATCATGTTTT 36990725 36990895 36990878 36990879 36990879 downstr_intron 22 1.59459459459459 AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTCTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT mutant NA NA NA NA NA 164 55 0.987611948035673 1 0.993805974017837 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA 0.0670779879183888 0.211254495838043 0.997220478288138 0.854639732139621 NA 0.139166241878216 NA FALSE NA 0 -0.571 NA NA NA AATF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:36990879 AATF HGNC Symbol protein_coding 107996 ENSG00000275700 ENSE00003719458 intron_variant 0.303756 0.23472 0.16938 0.099367 0.702220232947911 0.0526402 1.62332337375335e-07 FALSE 1.0972e-05 ENSE00001111166_BRK ENSE00001111166 BRK 17 35348025 35348194 + 48 84 38 A,G; T,T NA NA NA AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATTTGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGCCGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT 36990725 36990895 NA NA NA NA NA NA AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATTTGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGCCGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT AGATAGCCTTGTTGGGATTCACTCTTTTCTTACTCATTGTTAACATAGGAGATCCTTCCTCAAGCCCCTGCTAATGCTCATCTGAAGGACTTGGATGAAGAAATCTTTGATGATGATGACTTTTACCACCAGGTGAGACTTTTACACTCTCTTGTTACAAATCATGTTTT control NA NA NA NA NA 1362 1221 0.0163897994831523 0.033790091971553 0.0250899457273527 0.999700399209029 0.994740557367246 0.920533960117284 0.788745504161957 NA NA -0.904144160634132 -0.754955412190404 0.997220478288138 0.854639732139621 NA -0.829549786412268 NA TRUE NA NA NA NA NA NA AATF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AATF NA NA NA ENSG00000275700 ENSE00003719458 NA NA NA NA NA NA NA 1.62332337375335e-07 FALSE NA ENSE00001111441_000 ENSE00001111441 000 11 117152275 117152444 + 41 99 30 NA NA NA NA NA TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC 117281558 117281728 NA NA NA NA NA NA TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC natural 146 215 0.79558700560402 0.774101667974179 0.784844336789099 591 266 0.712431883941013 0.840526527958076 0.776479205949544 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 0 0 0 0 0.784844336789099 0.776479205949544 0 0 0 FALSE FALSE NA NA NA NA NA RNF214 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF214 NA NA NA ENSG00000167257 ENSE00003538339 NA NA NA NA NA NA NA 0.830018244677536 FALSE NA ENSE00001111441_001 ENSE00001111441 001 11 117152275 117152444 + 41 99 30 C T 117152285 2702 11 TGAGTCAGTTTAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC 117281558 117281728 117281568 117281569 117281569 upstr_intron -31 -0.731707317073171 TGAGTCAGTTTAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant NA NA NA NA NA 151 488 0 0.0106923960045478 0.00534619800227388 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 NA NA -0.712431883941013 -0.829834131953528 0.784844336789099 0.776479205949544 NA -0.77113300794727 NA TRUE NA 0 0.126 . upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 1 NA TCA C,T 8.279e-06 11:117281569 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 intron_variant 0.186372 0.1966 0.05393 0.101703 0.581047942719955 0.0606427 0.830018244677536 FALSE 4.07618e-06 ENSE00001111441_002 ENSE00001111441 002 11 117152275 117152444 + 41 99 30 C T 117152288 2703 14 TGAGTCAGTTCAGTAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC 117281558 117281728 117281571 117281572 117281572 upstr_intron -28 -0.658536585365854 TGAGTCAGTTCAGTAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant NA NA NA NA NA 250 61 0.802971478662616 0.804128352670987 0.803549915666802 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 NA NA 0.0905395947216032 -0.0363981752870882 0.784844336789099 0.776479205949544 NA 0.0270707097172575 NA FALSE NA 0 -0.389 . upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 1 NA GCA C,T 8.279e-06 11:117281572 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 intron_variant 0.489951 0.19518 0.03479 0.156188 0.598261726752838 0.061293 0.830018244677536 FALSE 8.15594e-06 ENSE00001111441_003 ENSE00001111441 003 11 117152275 117152444 + 41 99 30 A T 117152292 2704 18 TGAGTCAGTTCAGCAGTTAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC 117281558 117281728 117281575 117281576 117281576 upstr_intron -24 -0.560975609756098 TGAGTCAGTTCAGCAGTTAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant NA NA NA NA NA 41 265 0.8 0.690159037011438 0.745079518505719 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 NA NA 0.0875681160589874 -0.150367490946637 0.784844336789099 0.776479205949544 NA -0.0313996874438249 NA FALSE NA 0.001 0.443 . upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 rs35836551&rs550291839 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TAA A,T 8.279e-06 11:117281576 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 intron_variant 0.24966 0.20488 0.10882 0.156188 0.743785510624226 0.061293 0.830018244677536 FALSE 4.07681e-06 ENSE00001111441_006 ENSE00001111441 006 11 117152275 117152444 + 41 99 30 C T 117152351 2707 77 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAATGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC 117281558 117281728 117281634 117281635 117281635 exon 36 0.363636363636364 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAATGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant 26 12 0 0.0552657751577849 0.0276328875788924 NA NA NA NA NA 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 -0.79558700560402 -0.718835892816394 NA NA 0.784844336789099 0.776479205949544 -0.757211449210207 NA NA NA TRUE 0.099 -1.204 rs182447283 upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 rs182447283 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 ACG C,T 3.31e-05 11:117281635 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 synonymous_variant 1.377967 0.85152 0.06489 0.730579 0.641459902482288 0 0.830018244677536 FALSE 2.43845e-05 ENSE00001111441_007 ENSE00001111441 007 11 117152275 117152444 + 41 99 30 G A 117152353 2708 79 GTGAACTTCCCCCCAAAGCCACTCTCTTACCTCTGATGGGGGTGGAGGTAAAGTGGGAGTAGGGATTTGAGGAAGGCTGCTCAGCTTGGCTTCGTTCCTCACTAACTGGATATGACTATTAAATTGGTCCTAAAAAAAAAAAGGATTATTTTTACTGCTGAACTGACTCA 117281558 117281728 117281636 117281637 117281637 exon 38 0.383838383838384 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGAAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant NA NA NA NA NA 102 23 0.867219015620909 0.8 0.833609507810455 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 NA NA 0.154787131679897 -0.0405265279580757 0.784844336789099 0.776479205949544 NA 0.0571303018609106 NA FALSE NA 1 6.428 . upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 1 NA GGA G,A 8.276e-06 11:117281637 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 missense_variant 5.995799 0.96054 0.94445 0.730579 0.997626952747246 0 0.830018244677536 FALSE 4.06402e-06 ENSE00001111441_008 ENSE00001111441 008 11 117152275 117152444 + 41 99 30 C T 117152369 2709 95 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGTCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC 117281558 117281728 117281652 117281653 117281653 exon -46 0.545454545454545 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGTCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant 11 57 0.85 0.85 0.85 73 41 0.948085388602241 0.946202670290994 0.947144029446617 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 0.05441299439598 0.0758983320258212 0.235653504661228 0.105676142332918 0.784844336789099 0.776479205949544 0.0651556632109006 0.170664823497073 0.105509160286173 FALSE FALSE 1 0.97 . upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 1 NA GCC C,T 1.655e-05 11:117281653 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 synonymous_variant 2.243701 0.92189 0.79082 0.730579 0.80112655661551 0 0.830018244677536 FALSE 2.03186e-05 ENSE00001111441_009 ENSE00001111441 009 11 117152275 117152444 + 41 99 30 C T 117152390 2710 116 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCTACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC 117281558 117281728 117281673 117281674 117281674 exon -25 0.757575757575758 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCTACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant 15 47 0.85 0.85 0.85 NA NA NA NA NA 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 0.05441299439598 0.0758983320258213 NA NA 0.784844336789099 0.776479205949544 0.0651556632109007 NA NA NA FALSE 0.31 -0.773 . upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 1 NA CCA C,T 6.62e-05 11:117281674 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 synonymous_variant 1.99214 0.87888 0.30277 0.730579 0.768892378294608 0 0.830018244677536 FALSE 5.28361e-05 ENSE00001111441_011 ENSE00001111441 011 11 117152275 117152444 + 41 99 30 A G 117152402 2712 128 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCGCCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC 117281558 117281728 117281685 117281686 117281686 exon -13 0.878787878787879 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCGCCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant NA NA NA NA NA 101 20 0.940820404655919 0.8 0.87041020232796 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 NA NA 0.228388520714906 -0.0405265279580757 0.784844336789099 0.776479205949544 NA 0.0939309963784154 NA FALSE NA 0.841 -0.224 rs144443870 upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 rs144443870 1 G:0.0138 G:0.0477 G:0.0086 NA G:0 G:0 G:0 G:0.0281 G:0.0001 CAC A,G 0.002921 11:117281686 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 synonymous_variant 1.750042 0.85874 0.43962 0.730579 0.809969853664831 0 0.830018244677536 FALSE 0.00252897 ENSE00001111441_015 ENSE00001111441 015 11 117152275 117152444 + 41 99 30 G A 117152434 2716 160 GTGAACTTCCTCCCAAAGCCACTCTCTTACCTCTGATGGGGGTGGAGGTAAAGTGGGAGTAGGGATTTGAGGAAGGCTGCTCAGCTTGGCTCCGTTCCTCACTAACTGGATATGACTATTAAATTGGTCCTAAAAAAAAAAAGGATTATTTTTACTGCTGAACTGACTCA 117281558 117281728 117281717 117281718 117281718 downstr_intron 20 1.68965517241379 TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGAGGAAGTTCAC TGAGTCAGTTCAGCAGTAAAAATAATCCTTTTTTTTTTTAGGACCAATTTAATAGTCATATCCAGTTAGTGAGGAACGGAGCCAAGCTGAGCAGCCTTCCTCAAATCCCTACTCCCACTTTACCTCCACCCCCATCAGAGGTAAGAGAGTGGCTTTGGGGGGAAGTTCAC mutant 39 28 0 0 0 NA NA NA NA NA 0.79558700560402 0.774101667974179 0.712431883941013 0.840526527958076 -0.79558700560402 -0.774101667974179 NA NA 0.784844336789099 0.776479205949544 -0.784844336789099 NA NA NA TRUE 0.044 0.592 . upstream_gene_variant MODIFIER RNF214 HGNC 25335 ENST00000534709 1 NA GGG G,A 4.138e-05 11:117281718 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003538339 intron_variant 1.915791 0.20795 0.08334 0.108992 0.836461754867964 0.209738 0.830018244677536 FALSE 3.26725e-05 ENSE00001111504_000 ENSE00001111504 000 16 68100163 68100332 + 57 66 47 NA NA NA NA NA GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 NA NA NA NA NA NA GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT natural 209 244 0.99177963800048 0.993235805222282 0.992507721611381 5416 7765 0.975145588787024 0.922702487074416 0.94892403793072 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0 0 0 0 0.992507721611381 0.94892403793072 0 0 0 FALSE FALSE NA NA NA NA NA DUS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DUS2 NA NA NA ENSG00000167264 ENSE00003657723 NA NA NA NA NA NA NA 0.000272032398658379 FALSE NA ENSE00001111504_001 ENSE00001111504 001 16 68100163 68100332 + 57 66 47 C T 68100181 2259 19 GCAGAGTGATGGTTTGTTTCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066277 68066278 68066278 upstr_intron -39 -0.666666666666667 GCAGAGTGATGGTTTGTTTCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 38 95 1 0.989313972218534 0.994656986109267 NA NA NA NA NA 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00822036199952025 -0.00392183300374749 NA NA 0.992507721611381 0.94892403793072 0.00214926449788638 NA NA NA FALSE 0.017 -0.126 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 6/14 1 NA TCC C,T 8.236e-06 16:68066278 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 0.308263 0.21034 0.07143 0.156188 0.674895720696233 0.171281 0.000272032398658379 FALSE 4.06187e-06 ENSE00001111504_002 ENSE00001111504 002 16 68100163 68100332 + 57 66 47 G A 68100184 2260 22 GCAGAGTGATGGTTTGTTCCAAAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066280 68066281 68066281 upstr_intron -36 -0.614035087719298 GCAGAGTGATGGTTTGTTCCAAAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 52 41 0.99877250408847 0.995334948443289 0.997053726265879 640 713 0.995008168027091 0.997781131547409 0.99639464978725 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00699286608799043 0.00209914322100668 0.0198625792400678 0.075078644472993 0.992507721611381 0.94892403793072 0.00454600465449856 0.0474706118565304 0.0429246072020318 FALSE FALSE 0.946 3.488 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 6/14 1 NA AGA G,A 8.236e-06 16:68066281 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 0.547447 0.48873 0.86326 0.156188 0.669478074955763 0.171281 0.000272032398658379 FALSE 4.06161e-06 ENSE00001111504_003 ENSE00001111504 003 16 68100163 68100332 + 57 66 47 G A 68100193 2261 31 GCAGAGTGATGGTTTGTTCCAGAAGACATAAGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066289 68066290 68066290 upstr_intron -27 -0.456140350877193 GCAGAGTGATGGTTTGTTCCAGAAGACATAAGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 25 49 0.998902801503157 1 0.999451400751579 169 231 0.97677913186162 0.991130112529802 0.983954622195711 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.0071231635026775 0.00676419477771817 0.00163354307459651 0.0684276254553856 0.992507721611381 0.94892403793072 0.00694367914019783 0.0350305842649911 0.0280869051247932 FALSE FALSE 0.094 0.437 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 6/14 1 NA AGG G,A 8.236e-06 16:68066290 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 0.985039 0.33541 0.04676 0.295142 0.717907478537041 0.171281 0.000272032398658379 FALSE 4.06134e-06 ENSE00001111504_004 ENSE00001111504 004 16 68100163 68100332 + 57 66 47 G A 68100194 2262 32 GCAGAGTGATGGTTTGTTCCAGAAGACATAGATGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066290 68066291 68066291 upstr_intron -26 -0.43859649122807 GCAGAGTGATGGTTTGTTCCAGAAGACATAGATGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 57 62 0.994328057372454 1 0.997164028686227 899 247 0.999862588778084 1 0.999931294389042 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00254841937197381 0.00676419477771817 0.0247169999910599 0.0772975129255836 0.992507721611381 0.94892403793072 0.00465630707484599 0.0510072564583218 0.0463509493834758 FALSE FALSE 0.019 -0.274 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 6/14 1 NA GGT G,A 4.942e-05 16:68066291 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 0.945277 0.2428 0.01245 0.295142 0.721067193645834 0.171281 0.000272032398658379 FALSE 2.43677e-05 ENSE00001111504_005 ENSE00001111504 005 16 68100163 68100332 + 57 66 47 T G 68100200 2263 38 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCGTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066296 68066297 68066297 upstr_intron -20 -0.333333333333333 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCGTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 386 568 0.703881447528312 0.840244706066648 0.77206307679748 768 1466 0.84744230127852 0.883084680872835 0.865263491075678 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.287898190472168 -0.152991099155634 -0.127703287508504 -0.0396178062015814 0.992507721611381 0.94892403793072 -0.220444644813901 -0.0836605468550425 0.136784097958858 FALSE FALSE 0.131 0.073 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 6/14 1 NA CTT T,G 8.236e-06 16:68066297 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 0.836375 0.24839 0.04421 0.295142 0.678379743048741 0.171281 0.000272032398658379 FALSE 4.06091e-06 ENSE00001111504_006 ENSE00001111504 006 16 68100163 68100332 + 57 66 47 C T 68100210 2264 48 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCTTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066306 68066307 68066307 upstr_intron -10 -0.157894736842105 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCTTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 156 18 0.8924863711351 0.994522614257385 0.943504492696242 865 360 1 1 1 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.0992932668653801 0.00128680903510348 0.0248544112129764 0.0772975129255836 0.992507721611381 0.94892403793072 -0.0490032289151383 0.05107596206928 0.100079190984418 FALSE FALSE 0 0.024 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 6/14 rs544740487 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 5.765e-05 16:68066307 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 0.318056 0.24502 0.07102 0.295142 0.643355343753496 0.252767 0.000272032398658379 FALSE NA ENSE00001111504_007 ENSE00001111504 007 16 68100163 68100332 + 57 66 47 G A 68100216 2265 54 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTACAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066312 68066313 68066313 upstr_intron -4 -0.0526315789473684 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTACAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 62 53 0.992540404027127 0.998531364113873 0.9955358840705 65 634 1 0.99841632243888 0.99920816121944 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.000760766026646875 0.00529555889159128 0.0248544112129764 0.075713835364464 0.992507721611381 0.94892403793072 0.00302816245911908 0.0502841232887202 0.0472559608296011 FALSE FALSE 0 -0.228 . splice_region_variant&intron_variant LOW DUS2 HGNC 26014 ENST00000432752 6/14 rs199830338 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGC G,A 8.236e-06 16:68066313 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 splice_region_variant 1.497826 0.24494 0.06548 0.295142 0.597780202900047 0.406381 0.000272032398658379 FALSE 4.06088e-06 ENSE00001111504_008 ENSE00001111504 008 16 68100163 68100332 + 57 66 47 C T 68100225 2266 63 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTTAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066321 68066322 68066322 exon 6 0.0909090909090909 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTTAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 146 186 0.84623656322616 0.85 0.84811828161308 357 2899 0.846791715720922 0.804601699147577 0.82569670743425 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.14554307477432 -0.143235805222282 -0.128353873066101 -0.118100787926839 0.992507721611381 0.94892403793072 -0.144389439998301 -0.12322733049647 0.0211621095018308 FALSE FALSE 0.983 0.053 . synonymous_variant LOW DUS2 HGNC 26014 ENST00000432752 7/15 1 NA TCA C,T 8.236e-06 16:68066322 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 synonymous_variant 1.98408 0.97018 0.69799 0.706548 0.686360822317464 0 0.000272032398658379 FALSE 8.12143e-06 ENSE00001111504_009 ENSE00001111504 009 16 68100163 68100332 + 57 66 47 A G 68100226 2267 64 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCGGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066322 68066323 68066323 exon 7 0.106060606060606 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCGGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 17 22 1 1 1 1121 1740 0.999779524032676 0.999737107272491 0.999758315652584 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00822036199952025 0.00676419477771817 0.0246339352456522 0.0770346201980751 0.992507721611381 0.94892403793072 0.00749227838861921 0.0508342777218636 0.0433419993332444 FALSE FALSE 1 3.126 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000432752 7/15 1 tolerated(0.19) benign(0.001) NA CAG A,G 8.236e-06 16:68066323 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 2.608346 0.98209 0.90466 0.706548 0.989782790324569 0 0.000272032398658379 FALSE 4.06081e-06 ENSE00001111504_010 ENSE00001111504 010 16 68100163 68100332 + 57 66 47 C T 68100230 2268 68 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCATTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066326 68066327 68066327 exon 11 0.166666666666667 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCATTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 24 129 0.990913497522644 0.940620633217289 0.965767065369966 1702 1633 0.991197196567838 0.99872845276868 0.994962824668259 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.000866140477836064 -0.0526151720049928 0.016051607780814 0.0760259656942635 0.992507721611381 0.94892403793072 -0.0267406562414144 0.0460387867375388 0.0727794429789532 FALSE FALSE 1 3.734 rs141092300 missense_variant MODERATE DUS2 HGNC 26014 ENST00000432752 7/15 rs141092300 1 deleterious(0.01) benign(0.366) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACT C,T 8.236e-06 16:68066327 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 5.232298 0.98898 0.94348 0.706548 0.998688814173589 0 0.000272032398658379 FALSE 8.12163e-06 ENSE00001111504_011 ENSE00001111504 011 16 68100163 68100332 + 57 66 47 C A 68100245 2269 83 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGAAACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066341 68066342 68066342 exon 26 0.393939393939394 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGAAACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 47 49 0.999824002165776 1 0.999912001082888 NA NA NA NA NA 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00804436416529586 0.00676419477771817 NA NA 0.992507721611381 0.94892403793072 0.00740427947150701 NA NA NA FALSE 0.876 1.96 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000432752 7/15 1 deleterious(0.01) benign(0.056) NA ACA C,A 8.236e-06 16:68066342 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 3.158252 0.95321 0.85086 0.706548 0.934732461898042 0 0.000272032398658379 FALSE 4.06095e-06 ENSE00001111504_012 ENSE00001111504 012 16 68100163 68100332 + 57 66 47 C T 68100247 2270 85 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACATGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066343 68066344 68066344 exon 28 0.424242424242424 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACATGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 28 12 0.994932505058895 1 0.997466252529448 528 1293 0.995995206525957 0.995955888929209 0.995975547727583 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00315286705841555 0.00676419477771817 0.0208496177389336 0.0732534018547927 0.992507721611381 0.94892403793072 0.00495853091806686 0.0470515097968631 0.0420929788787963 FALSE FALSE 0 0.088 rs59111022 missense_variant MODERATE DUS2 HGNC 26014 ENST00000432752 7/15 rs59111022 1 tolerated(0.2) benign(0.003) T:0.0050 T:0.0189 T:0 NA T:0 T:0 T:0 T:0.0168 T:0 ACG C,T 0.00159 16:68066344 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 1.694138 0.20541 0.01865 0.706548 0.84188720428362 0 0.000272032398658379 FALSE 0.00118584 ENSE00001111504_013 ENSE00001111504 013 16 68100163 68100332 + 57 66 47 G A 68100248 2271 86 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACACAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066344 68066345 68066345 exon 29 0.439393939393939 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACACAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 39 22 0.996231016212265 0.998527673438072 0.997379344825168 2433 210 0.991266616877324 0.976225952428171 0.983746284652747 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00445137821178521 0.00529186821578986 0.0161210280903 0.0535234653537547 0.992507721611381 0.94892403793072 0.00487162321378753 0.0348222467220274 0.0299506235082398 FALSE FALSE 0 0.643 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000432752 7/15 1 tolerated(0.13) benign(0.005) NA CGC G,A 8.236e-06 16:68066345 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 1.426724 0.26228 0.08922 0.706548 0.933006075384488 0 0.000272032398658379 FALSE 8.12229e-06 ENSE00001111504_014 ENSE00001111504 014 16 68100163 68100332 + 57 66 47 G A 68100251 2272 89 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAAACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066347 68066348 68066348 exon 32 0.484848484848485 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAAACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 62 47 0.970358749083782 0.996346375684333 0.983352562384058 334 862 0.873996637166302 0.986511141637239 0.93025388940177 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.0214208889166977 0.00311057046205154 -0.101148951620722 0.0638086545628227 0.992507721611381 0.94892403793072 -0.00915515922732307 -0.0186701485289495 0.00951498930162642 FALSE FALSE 1 2.666 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:68066348 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 1.752429 0.9724 0.72988 0.706548 0.574258311822031 0 0.000272032398658379 FALSE 4.06108e-06 ENSE00001111504_015 ENSE00001111504 015 16 68100163 68100332 + 57 66 47 G C 68100251 2273 89 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCACACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066347 68066348 68066348 exon 32 0.484848484848485 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCACACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 57 51 0.996902236244139 0.98877471749616 0.99283847687015 2194 315 0.999981241308547 0.99424165762093 0.997111449464739 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00512259824365924 -0.00446108772612164 0.0248356525215231 0.071539170546514 0.992507721611381 0.94892403793072 0.0003307552587688 0.0481874115340186 0.0478566562752498 FALSE FALSE 1 2.666 NA NA NA DUS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DUS2 NA NA NA ENSG00000167264 ENSE00003657723 missense_variant 1.862897 0.97468 0.86686 0.706548 0.923484119498355 0 0.000272032398658379 FALSE 4.06108e-06 ENSE00001111504_016 ENSE00001111504 016 16 68100163 68100332 + 57 66 47 T G 68100262 2274 100 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCGGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066358 68066359 68066359 exon -24 0.651515151515151 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCGGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 57 35 0.95427830216071 0.9996942286445 0.976986265402605 1267 2049 1 0.991406729659161 0.995703364829581 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.03750133583977 0.0064584234222177 0.0248544112129764 0.0687042425847447 0.992507721611381 0.94892403793072 -0.0155214562087762 0.0467793268988606 0.0623007831076367 FALSE FALSE 1 6.727 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000432752 7/15 1 deleterious(0) probably_damaging(0.937) NA CTG T,G 8.236e-06 16:68066359 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 6.028625 0.99245 0.98477 0.706548 0.985997549905049 0 0.000272032398658379 FALSE 4.06114e-06 ENSE00001111504_017 ENSE00001111504 017 16 68100163 68100332 + 57 66 47 G A 68100272 2275 110 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCACATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066368 68066369 68066369 exon -14 0.803030303030303 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCACATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 25 45 0.966850698747864 0.988508939380971 0.977679819064417 1109 848 0.992056205081398 0.990441140517649 0.991248672799524 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.0249289392526161 -0.0047268658413111 0.0169106162943748 0.0677386534432322 0.992507721611381 0.94892403793072 -0.0148279025469636 0.0423246348688035 0.0571525374157671 FALSE FALSE 1 8.286 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000432752 7/15 1 deleterious(0) probably_damaging(0.992) NA CGC G,A 1.647e-05 16:68066369 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 7.908872 0.99423 0.98926 0.706548 0.999429932083538 0 0.000272032398658379 FALSE 8.12282e-06 ENSE00001111504_018 ENSE00001111504 018 16 68100163 68100332 + 57 66 47 C T 68100284 2276 122 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATTGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066380 68066381 68066381 exon -2 0.984848484848485 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATTGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 106 151 0.826559424084659 0.925911385325917 0.876235404705288 NA NA NA NA NA 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.165220213915821 -0.0673244198963652 NA NA 0.992507721611381 0.94892403793072 -0.116272316906093 NA NA NA FALSE 1 4.893 . missense_variant&splice_region_variant MODERATE DUS2 HGNC 26014 ENST00000432752 7/15 rs560287191 1 tolerated(0.06) benign(0.199) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 4.118e-05 16:68066381 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 missense_variant 5.019026 0.99408 0.97458 0.706548 0.998455182437229 0 0.000272032398658379 FALSE 2.84333e-05 ENSE00001111504_019 ENSE00001111504 019 16 68100163 68100332 + 57 66 47 G T 68100285 2277 123 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCTGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066381 68066382 68066382 exon -1 1 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCTGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 184 429 0.84701529780508 0.85 0.84850764890254 NA NA NA NA NA 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.1447643401954 -0.143235805222282 NA NA 0.992507721611381 0.94892403793072 -0.144000072708841 NA NA NA FALSE 1 1.89 . splice_region_variant&synonymous_variant LOW DUS2 HGNC 26014 ENST00000432752 7/15 1 NA CGG G,T 8.236e-06 16:68066382 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 splice_region_variant 2.223182 0.98106 0.92767 0.706548 0.822738326596571 0 0.000272032398658379 FALSE 4.06213e-06 ENSE00001111504_020 ENSE00001111504 020 16 68100163 68100332 + 57 66 47 A G 68100306 2278 144 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATGTGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066402 68066403 68066403 downstr_intron 21 1.45652173913043 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATGTGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 23 21 1 0.996301831356961 0.99815091567848 305 924 1 0.998963630857857 0.999481815428929 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00822036199952025 0.00306602613467877 0.0248544112129764 0.0762611437834411 0.992507721611381 0.94892403793072 0.00564319406709951 0.0505577774982087 0.0449145834311092 FALSE FALSE 0 0.269 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 7/14 rs200147333 1 NA G:0.0002 G:0 TAT A,G 1.647e-05 16:68066403 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 2.072099 0.26711 0.03434 0.099367 0.72820711816826 0.313112 0.000272032398658379 FALSE 2.0313e-05 ENSE00001111504_021 ENSE00001111504 021 16 68100163 68100332 + 57 66 47 G A 68100311 2279 149 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAAGTCCATTCTCTCTGGTGATGT 68066259 68066429 68066407 68066408 68066408 downstr_intron 26 1.56521739130435 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAAGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 26 10 1 0.996703709177032 0.998351854588516 557 1133 0.993938047850692 0.993421793443652 0.993679920647172 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00822036199952025 0.00346790395474983 0.0187924590636679 0.0707193063692361 0.992507721611381 0.94892403793072 0.00584413297713504 0.044755882716452 0.0389117497393169 FALSE FALSE 0.524 0.636 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 7/14 rs371010915 1 NA A:0.0002 A:0 AGG G,A 8.236e-06 16:68066408 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 2.409192 0.20326 0.07861 0.099367 0.844863312877115 0.307083 0.000272032398658379 FALSE 1.21893e-05 ENSE00001111504_022 ENSE00001111504 022 16 68100163 68100332 + 57 66 47 T G 68100318 2280 156 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATGCTCTCTGGTGATGT 68066259 68066429 68066414 68066415 68066415 downstr_intron 33 1.71739130434783 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATGCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant 35 20 1 1 1 1454 1186 0.994960720462915 0.963440485826478 0.979200603144696 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 0.00822036199952025 0.00676419477771817 0.0198151316758914 0.0407379987520612 0.992507721611381 0.94892403793072 0.00749227838861921 0.0302765652139763 0.0227842868253571 FALSE FALSE 0.003 0.058 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 7/14 1 NA TTC T,G 8.236e-06 16:68066415 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 2.082451 0.23142 0.09332 0.099367 0.698891776188368 0.307083 0.000272032398658379 FALSE 4.06332e-06 ENSE00001111504_023 ENSE00001111504 023 16 68100163 68100332 + 57 66 47 C T 68100321 2281 159 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTTTCTGGTGATGT 68066259 68066429 68066417 68066418 68066418 downstr_intron 36 1.78260869565217 GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTTTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT mutant NA NA NA NA NA 260 1751 0.989184174178923 0.991928871945098 0.990556523062011 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 NA NA 0.0140385853918992 0.0692263848706819 0.992507721611381 0.94892403793072 NA 0.0416324851312905 NA FALSE NA 0 -0.227 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000432752 7/14 1 NA TCT C,T 8.236e-06 16:68066418 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003657723 intron_variant 1.321477 0.20344 0.00591 0.099367 0.759253535974047 0.176718 0.000272032398658379 FALSE NA ENSE00001111504_BRK ENSE00001111504 BRK 16 68100163 68100332 + 57 66 47 A,G; T,T NA NA NA GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCTTATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGCCAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT 68066259 68066429 NA NA NA NA NA NA GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCTTATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGCCAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT GCAGAGTGATGGTTTGTTCCAGAAGACATAGGTGCTCTTGTGTTTTCCTTTCTGCAGATCCTCAGCACTCTTGTTAAAGGGACACGCAGACCTGTGACCTGCAAGATTCGCATCCTGCCATCGGTAAGGATGGTGTGTTACATATGAAGGTCCATTCTCTCTGGTGATGT control 62 130 0 0 0 466 371 0 0 0 0.99177963800048 0.993235805222282 0.975145588787024 0.922702487074416 -0.99177963800048 -0.993235805222282 -0.975145588787024 -0.922702487074416 0.992507721611381 0.94892403793072 -0.992507721611381 -0.94892403793072 0.0435836836806608 TRUE TRUE NA NA NA NA NA DUS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DUS2 NA NA NA ENSG00000167264 ENSE00003657723 NA NA NA NA NA NA NA 0.000272032398658379 FALSE NA ENSE00001111517_000 ENSE00001111517 000 16 68094903 68095072 + 66 48 56 NA NA NA NA NA AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 NA NA NA NA NA NA CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT natural 137 99 0.925828050307762 0.974598373258238 0.950213211783 7195 7938 0.96925679903999 0.859715313624506 0.914486056332248 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 0 0 0 0 0.950213211783 0.914486056332248 0 0 0 FALSE FALSE NA NA NA NA NA DUS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DUS2 NA NA NA ENSG00000167264 ENSE00003635036 NA NA NA NA NA NA NA 0.000272032398658379 FALSE NA ENSE00001111517_001 ENSE00001111517 001 16 68094903 68095072 + 66 48 56 G A 68094919 2239 17 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGTCCTCTCCATGGGATGG 68060999 68061169 68061015 68061016 68061016 upstr_intron -50 -0.742424242424242 CCATCCCATGGAGAGGACCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 40 253 0.926183549821041 0.998919676935255 0.962551613378148 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA -0.0430732492189485 0.139204363310749 0.950213211783 0.914486056332248 NA 0.0480655570459002 NA FALSE NA 0 0.142 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 5/8 1 NA GGC G,A 8.236e-06 16:68061016 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant 0.321347 0.16578 0.03901 0.156188 0.610963168158413 0.0481565 0.000272032398658379 FALSE 4.08147e-06 ENSE00001111517_002 ENSE00001111517 002 16 68094903 68095072 + 66 48 56 C T 68094931 2240 29 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGAAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061027 68061028 68061028 upstr_intron -38 -0.560606060606061 CCATCCCATGGAGAGGGCCATAGTGTCTTCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 667 1946 1 0.850641664461025 0.925320832230512 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0307432009600105 -0.00907364916348108 0.950213211783 0.914486056332248 NA 0.0108347758982647 NA FALSE NA 0 0.036 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 5/8 1 NA TCC C,T 1.647e-05 16:68061028 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant 0.356211 0.15198 0.00469 0.156188 0.457465029406324 0.063131 0.000272032398658379 FALSE 1.62733e-05 ENSE00001111517_003 ENSE00001111517 003 16 68094903 68095072 + 66 48 56 C T 68094948 2241 46 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAAGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061044 68061045 68061045 upstr_intron -21 -0.303030303030303 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACTTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 1160 1709 0.999573496067726 0.996771941253404 0.998172718660565 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0303166970277366 0.137056627628898 0.950213211783 0.914486056332248 NA 0.0836866623283173 NA FALSE NA 0 0.216 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 5/8 rs535366136 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 8.236e-06 16:68061045 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant 0.764414 0.16043 0.01819 0.295142 0.722994630440897 0.124281 0.000272032398658379 FALSE 4.06273e-06 ENSE00001111517_005 ENSE00001111517 005 16 68094903 68095072 + 66 48 56 T C 68094951 2243 49 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAGAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061047 68061048 68061048 upstr_intron -18 -0.257575757575758 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTCTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 1406 248 0.985047316152851 0.983394031481114 0.984220673816983 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0157905171128619 0.123678717856608 0.950213211783 0.914486056332248 NA 0.0697346174847351 NA FALSE NA 0 -0.505 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 5/8 1 NA TTT T,C 8.236e-06 16:68061048 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant 0.392949 0.15965 0.00504 0.295142 0.711759782086731 0.17251 0.000272032398658379 FALSE 4.0622e-06 ENSE00001111517_006 ENSE00001111517 006 16 68094903 68095072 + 66 48 56 T C 68094954 2244 52 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACGCAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061050 68061051 68061051 upstr_intron -15 -0.212121212121212 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGCGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant 567 163 0.0321097621360844 0.0821482594592047 0.0571290107976445 158 524 0.169611672512336 0.00759937369587235 0.0886055231041042 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 -0.893718288171678 -0.892450113799033 -0.799645126527653 -0.852115939928633 0.950213211783 0.914486056332248 -0.893084200985356 -0.825880533228143 0.0672036677572123 TRUE TRUE 0.998 5.485 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 5/8 1 NA GTG T,C 2.471e-05 16:68061051 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant 1.285671 0.96146 0.97876 0.295142 0.793945076860522 0.77139 0.000272032398658379 FALSE 1.6248e-05 ENSE00001111517_007 ENSE00001111517 007 16 68094903 68095072 + 66 48 56 G A 68094977 2245 75 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCTATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061073 68061074 68061074 exon 9 0.1875 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATAGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant 17 39 0.956741013041386 0.915768271689576 0.936254642365481 NA NA NA NA NA 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 0.0309129627336239 -0.0588301015686623 NA NA 0.950213211783 0.914486056332248 -0.0139585694175192 NA NA NA FALSE 1 7.73 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:68061074 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 missense_variant 6.130186 0.98139 0.98167 0.706548 0.975128589748864 0 0.000272032398658379 FALSE 4.06131e-06 ENSE00001111517_008 ENSE00001111517 008 16 68094903 68095072 + 66 48 56 G C 68094977 2246 75 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCGATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061073 68061074 68061074 exon 9 0.1875 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATCGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 1198 129 0.994843298807598 1 0.997421649403799 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0255864997676081 0.140284686375494 0.950213211783 0.914486056332248 NA 0.0829355930715512 NA FALSE NA 1 7.73 NA NA NA DUS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DUS2 NA NA NA ENSG00000167264 ENSE00003635036 missense_variant 5.845336 0.98224 0.98535 0.706548 0.978498437698218 0 0.000272032398658379 FALSE 4.06131e-06 ENSE00001111517_009 ENSE00001111517 009 16 68094903 68095072 + 66 48 56 C T 68094986 2247 84 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGAGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061082 68061083 68061083 exon 18 0.375 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCTCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 2233 733 0.967041719524303 0.999784179076095 0.983412949300199 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA -0.00221507951568689 0.14006886545159 0.950213211783 0.914486056332248 NA 0.0689268929679514 NA FALSE NA 0.96 0 . synonymous_variant LOW DUS2 HGNC 26014 ENST00000562246 6/9 1 NA CCC C,T 1.647e-05 16:68061083 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 synonymous_variant 2.320222 0.89045 0.1938 0.706548 0.541615126384471 0 0.000272032398658379 FALSE 8.12262e-06 ENSE00001111517_010 ENSE00001111517 010 16 68094903 68095072 + 66 48 56 T G 68094988 2248 86 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCCGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061084 68061085 68061085 exon 20 0.416666666666667 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCGGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 456 483 0.869046903863015 0.784100881978187 0.826573892920601 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA -0.100209895176974 -0.0756144316463188 0.950213211783 0.914486056332248 NA -0.0879121634116465 NA FALSE NA 1 6.272 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000562246 6/9 1 deleterious(0) probably_damaging(0.999) NA CTG T,G 8.236e-06 16:68061085 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 missense_variant 6.764685 0.98611 0.98167 0.706548 0.977265451384204 0 0.000272032398658379 FALSE 4.06121e-06 ENSE00001111517_011 ENSE00001111517 011 16 68094903 68095072 + 66 48 56 T C 68094993 2249 91 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGGCAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061089 68061090 68061090 exon -24 0.520833333333333 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGCCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 515 368 1 0.99884040849311 0.999420204246555 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0307432009600105 0.139125094868604 0.950213211783 0.914486056332248 NA 0.0849341479143073 NA FALSE NA 1 4.593 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000562246 6/9 1 deleterious(0.02) probably_damaging(0.917) NA GTC T,C 8.236e-06 16:68061090 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 missense_variant 4.468202 0.96947 0.95197 0.706548 0.958381113072623 0 0.000272032398658379 FALSE NA ENSE00001111517_012 ENSE00001111517 012 16 68094903 68095072 + 66 48 56 A T 68095003 2250 101 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGACAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061099 68061100 68061100 exon -14 0.729166666666667 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGTCAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant 17 11 0.99892700927956 0.998127837098018 0.998527423188789 2102 1530 0.975297548330156 0.999900443320539 0.987598995825348 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 0.0730989589717981 0.0235294638397795 0.00604074929016696 0.140185129696033 0.950213211783 0.914486056332248 0.0483142114057888 0.0731129394931 0.0247987280873113 FALSE FALSE 1 7.311 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000562246 6/9 1 deleterious(0) possibly_damaging(0.733) NA GAC A,T 8.236e-06 16:68061100 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 missense_variant 6.139766 0.98634 0.98709 0.706548 0.945027758145154 0 0.000272032398658379 FALSE 4.06121e-06 ENSE00001111517_013 ENSE00001111517 013 16 68094903 68095072 + 66 48 56 A C 68095005 2251 103 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTGGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061101 68061102 68061102 exon -12 0.770833333333333 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACCAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 403 242 0.997627344208029 1 0.998813672104015 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0283705451680399 0.140284686375494 0.950213211783 0.914486056332248 NA 0.0843276157717672 NA FALSE NA 1 7.311 . missense_variant MODERATE DUS2 HGNC 26014 ENST00000562246 6/9 1 tolerated(0.26) possibly_damaging(0.481) NA CAA A,C 8.236e-06 16:68061102 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 missense_variant 5.254645 0.98608 0.98736 0.706548 0.945358838406011 0 0.000272032398658379 FALSE 8.12301e-06 ENSE00001111517_014 ENSE00001111517 014 16 68094903 68095072 + 66 48 56 C T 68095026 2252 124 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGAAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061122 68061123 68061123 downstr_intron 10 1.18181818181818 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTTCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 1726 449 1 0.971970114803814 0.985985057401907 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0307432009600105 0.112254801179309 0.950213211783 0.914486056332248 NA 0.0714990010696596 NA FALSE NA 0 -1.082 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 6/8 rs369465133 1 NA T:0.0002 T:0 TCC C,T 2.471e-05 16:68061123 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant -0.136239 0.1522 0.01328 0.099367 0.485840815221537 0.108369 0.000272032398658379 FALSE 3.65565e-05 ENSE00001111517_015 ENSE00001111517 015 16 68094903 68095072 + 66 48 56 C T 68095029 2253 127 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCATGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061125 68061126 68061126 downstr_intron 13 1.23636363636364 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCATGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 100 200 0.997083145951361 0.989953092870797 0.993518119411079 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0278263469113713 0.130237779246292 0.950213211783 0.914486056332248 NA 0.0790320630788314 NA FALSE NA 0 -0.298 rs142644508 intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 6/8 rs142644508 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0001 ACG C,T 2.471e-05 16:68061126 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant -0.21251 0.07541 0.00164 0.099367 0.353945739853242 0.0968874 0.000272032398658379 FALSE 2.43728e-05 ENSE00001111517_016 ENSE00001111517 016 16 68094903 68095072 + 66 48 56 G A 68095030 2254 128 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTTGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061126 68061127 68061127 downstr_intron 14 1.25454545454545 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACAAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 245 468 1 0.999580349836427 0.999790174918214 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0307432009600105 0.139865036211922 0.950213211783 0.914486056332248 NA 0.085304118585966 NA FALSE NA 0 -0.366 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 6/8 1 NA CGA G,A 4.942e-05 16:68061127 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant -0.268754 0.13416 0.03324 0.099367 0.313827378290173 0.0968874 0.000272032398658379 FALSE 4.46944e-05 ENSE00001111517_017 ENSE00001111517 017 16 68094903 68095072 + 66 48 56 T G 68095033 2255 131 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCCCTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061129 68061130 68061130 downstr_intron 17 1.30909090909091 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGGGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant 21 13 0.975384041284068 1 0.987692020642034 NA NA NA NA NA 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 0.0495559909763058 0.0254016267417618 NA NA 0.950213211783 0.914486056332248 0.0374788088590338 NA NA NA FALSE 0.002 -0.139 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 6/8 rs376408660 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 GTG T,G 4.118e-05 16:68061130 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant 0.296943 0.16591 0.06284 0.099367 0.537513830511427 0.0968874 0.000272032398658379 FALSE NA ENSE00001111517_018 ENSE00001111517 018 16 68094903 68095072 + 66 48 56 G T 68095034 2256 132 AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTAACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061130 68061131 68061131 downstr_intron 18 1.32727272727273 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTTAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 932 390 0.994270317916608 0.999594265448333 0.996932291682471 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0250135188766188 0.139878951823828 0.950213211783 0.914486056332248 NA 0.0824462353502233 NA FALSE NA 0.016 0.157 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 6/8 1 NA TGA G,T 8.236e-06 16:68061131 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant -0.110885 0.1843 0.04809 0.099367 0.527375672623414 0.0968874 0.000272032398658379 FALSE 4.0626e-06 ENSE00001111517_019 ENSE00001111517 019 16 68094903 68095072 + 66 48 56 G A 68095044 2257 142 AATTCTAGTTTGGAGCTGTGTTTGAGGATCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061140 68061141 68061141 downstr_intron 28 1.50909090909091 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGATCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 50 1543 0.961036567056605 0.997668016437981 0.979352291747293 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA -0.00822023198338484 0.137952702813475 0.950213211783 0.914486056332248 NA 0.0648662354150452 NA FALSE NA 0.005 -0.103 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 6/8 1 NA GGT G,A 1.647e-05 16:68061141 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant 0.663561 0.89952 0.14479 0.099367 0.717506251057004 0.0968874 0.000272032398658379 FALSE 8.12797e-06 ENSE00001111517_020 ENSE00001111517 020 16 68094903 68095072 + 66 48 56 C G 68095060 2258 158 AATTCTAGTTTGCAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTACCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCCTAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 68061156 68061157 68061157 downstr_intron 44 1.8 CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTGCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT mutant NA NA NA NA NA 184 526 1 1 1 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 NA NA 0.0307432009600105 0.140284686375494 0.950213211783 0.914486056332248 NA 0.0855139436677524 NA FALSE NA 0 -1.844 . intron_variant MODIFIER DUS2 HGNC 26014 ENST00000562246 6/8 1 NA TCC C,G 1.647e-05 16:68061157 DUS2 HGNC Symbol protein_coding 91574 ENSG00000167264 ENSE00003635036 intron_variant -0.091662 0.09027 0.00489 0.099367 0.460840589987915 0.046323 0.000272032398658379 FALSE 1.2241e-05 ENSE00001111517_BRK ENSE00001111517 BRK 16 68094903 68095072 + 66 48 56 A,G; T,T NA NA NA AATTCTAGTTTGGAGCTGTGTTTGAGGACCCCTGCTTTCACTCGTGGAGGACTTGGCTTCTCAATCTTGTCAGGGTCTGACAGCAGGGCAGCTCCCATTCCTCCAAAAGGAGAAACACACAAAAGGTCTTCTTACATCTGGGAGACACTATGGCCCTCTCCATGGGATGG 68060999 68061169 NA NA NA NA NA NA CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTTTGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGCCAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT CCATCCCATGGAGAGGGCCATAGTGTCTCCCAGATGTAAGAAGACCTTTTGTGTGTTTCTCCTTAGGGAGGAATGGGAGCTGCCCTGCTGTCAGACCCTGACAAGATTGAGAAGGTAAGTCCTCCACGAGTGAAAGCAGGGGTCCTCAAACACAGCTCCAAACTAGAATT control 145 123 0 0 0 NA NA NA NA NA 0.925828050307762 0.974598373258238 0.96925679903999 0.859715313624506 -0.925828050307762 -0.974598373258238 NA NA 0.950213211783 0.914486056332248 -0.950213211783 NA NA NA TRUE NA NA NA NA NA DUS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DUS2 NA NA NA ENSG00000167264 ENSE00003635036 NA NA NA NA NA NA NA 0.000272032398658379 FALSE NA ENSE00001111558_000 ENSE00001111558 000 16 68382200 68382369 + 45 90 35 NA NA NA NA NA CAGCCCAGCGTGGCCAAAAGGCTCCCGCTACTCACCTTTCTGCCCTGTAGGTCCTCATTTGTTAATAATTCCGGCCGTTTCTCTATGATGTTAATTTTATCTTCCAAGTGGTTAGCCTTGAAGATCTTAGAAAGAAAACCGTAAAATTACTGTATTCATACTAAAGTATT 68348296 68348466 NA NA NA NA NA NA AATACTTTAGTATGAATACAGTAATTTTACGGTTTTCTTTCTAAGATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCATAGAGAAACGGCCGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAGGTGAGTAGCGGGAGCCTTTTGGCCACGCTGGGCTG AATACTTTAGTATGAATACAGTAATTTTACGGTTTTCTTTCTAAGATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCATAGAGAAACGGCCGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAGGTGAGTAGCGGGAGCCTTTTGGCCACGCTGGGCTG natural 12 42 0.999266746502916 0.970921901503826 0.985094324003371 773 1179 0.850681009699035 0.998652862589892 0.924666936144464 0.999266746502916 0.970921901503826 0.850681009699035 0.998652862589892 0 0 0 0 0.985094324003371 0.924666936144464 0 0 0 FALSE FALSE NA NA NA NA NA PRMT7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRMT7 NA NA NA ENSG00000132600 ENSE00001111558 NA NA NA NA NA NA NA 8.30563679212495e-09 FALSE NA ENSE00001111558_019 ENSE00001111558 019 16 68382200 68382369 + 45 90 35 T A 68382285 2300 86 CAGCCCAGCGTGGCCAAAAGGCTCCCGCTACTCACCTTTCTGCCCTGTAGGTCCTCATTTGTTAATAATTCCGGCCGTTTCTCTTTGATGTTAATTTTATCTTCCAAGTGGTTAGCCTTGAAGATCTTAGAAAGAAAACCGTAAAATTACTGTATTCATACTAAAGTATT 68348296 68348466 68348381 68348382 68348382 exon 41 0.455555555555556 AATACTTTAGTATGAATACAGTAATTTTACGGTTTTCTTTCTAAGATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCAAAGAGAAACGGCCGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAGGTGAGTAGCGGGAGCCTTTTGGCCACGCTGGGCTG AATACTTTAGTATGAATACAGTAATTTTACGGTTTTCTTTCTAAGATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCATAGAGAAACGGCCGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAGGTGAGTAGCGGGAGCCTTTTGGCCACGCTGGGCTG mutant NA NA NA NA NA 27 238 1 0.8 0.9 0.999266746502916 0.970921901503826 0.850681009699035 0.998652862589892 NA NA 0.149318990300965 -0.198652862589892 0.985094324003371 0.924666936144464 NA -0.0246669361444639 NA FALSE NA 1 4.645 . missense_variant MODERATE PRMT7 HGNC 25557 ENST00000441236 13/18 1 deleterious(0) probably_damaging(0.921) NA ATA T,A 8.236e-06 16:68348382 PRMT7 HGNC Symbol protein_coding 47589 ENSG00000132600 ENSE00001111558 missense_variant 6.617283 0.98567 0.97059 0.732398 0.966065571012401 0 8.30563679212495e-09 FALSE 4.06309e-06 ENSE00001111558_023 ENSE00001111558 023 16 68382200 68382369 + 45 90 35 C T 68382297 2304 98 CAGCCCAGCGTGGCCAAAAGGCTCCCGCTACTCACCTTTCTGCCCTGTAGGTCCTCATTTGTTAATAATTCCAGCCGTTTCTCTATGATGTTAATTTTATCTTCCAAGTGGTTAGCCTTGAAGATCTTAGAAAGAAAACCGTAAAATTACTGTATTCATACTAAAGTATT 68348296 68348466 68348393 68348394 68348394 exon -38 0.588888888888889 AATACTTTAGTATGAATACAGTAATTTTACGGTTTTCTTTCTAAGATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCATAGAGAAACGGCTGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAGGTGAGTAGCGGGAGCCTTTTGGCCACGCTGGGCTG AATACTTTAGTATGAATACAGTAATTTTACGGTTTTCTTTCTAAGATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCATAGAGAAACGGCCGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAGGTGAGTAGCGGGAGCCTTTTGGCCACGCTGGGCTG mutant NA NA NA NA NA 234 237 0.999344483900163 0.998049490558933 0.998696987229548 0.999266746502916 0.970921901503826 0.850681009699035 0.998652862589892 NA NA 0.148663474201128 -0.000603372030959393 0.985094324003371 0.924666936144464 NA 0.0740300510850844 NA FALSE NA 1 4.522 NA NA NA PRMT7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:68348394 PRMT7 HGNC Symbol protein_coding 47589 ENSG00000132600 ENSE00001111558 missense_variant 3.702326 0.98819 0.96862 0.732398 0.995815539017032 0 8.30563679212495e-09 FALSE 2.43752e-05 ENSE00001111558_BRK ENSE00001111558 BRK 16 68382200 68382369 + 45 90 35 A,G; T,T NA NA NA CAGCCCAGCGTGGCCAAAAGGCTCCCGCTACTCGGCTTTCTGCCCTGTAGGTCCTCATTTGTTAATAATTCCGGCCGTTTCTCTATGATGTTAATTTTATCTTCCAAGTGGTTAGCCTTGAAGATAATAGAAAGAAAACCGTAAAATTACTGTATTCATACTAAAGTATT 68348296 68348466 NA NA NA NA NA NA AATACTTTAGTATGAATACAGTAATTTTACGGTTTTCTTTCTATTATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCATAGAGAAACGGCCGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAGCCGAGTAGCGGGAGCCTTTTGGCCACGCTGGGCTG AATACTTTAGTATGAATACAGTAATTTTACGGTTTTCTTTCTAAGATCTTCAAGGCTAACCACTTGGAAGATAAAATTAACATCATAGAGAAACGGCCGGAATTATTAACAAATGAGGACCTACAGGGCAGAAAGGTGAGTAGCGGGAGCCTTTTGGCCACGCTGGGCTG control 239 111 0 0 0 236 64 0 0 0 0.999266746502916 0.970921901503826 0.850681009699035 0.998652862589892 -0.999266746502916 -0.970921901503826 -0.850681009699035 -0.998652862589892 0.985094324003371 0.924666936144464 -0.985094324003371 -0.924666936144464 0.0604273878589073 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRMT7 NA NA NA ENSG00000132600 ENSE00001111558 NA NA NA NA NA NA NA 8.30563679212495e-09 FALSE NA ENSE00001112252_000 ENSE00001112252 000 17 80617415 80617584 - 41 78 51 NA NA NA NA NA GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 NA NA NA NA NA NA GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT natural 632 800 0.850054494191498 0.843324534775062 0.84668951448328 4612 2618 0.798430881886639 0.82001459073977 0.809222736313205 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 0 0 0 0 0.84668951448328 0.809222736313205 0 0 0 FALSE FALSE NA NA NA NA NA RAB40B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB40B NA NA NA ENSG00000141542 ENSE00003585483 NA NA NA NA NA NA NA 0.00383601041524839 FALSE NA ENSE00001112252_001 ENSE00001112252 001 17 80617415 80617584 - 41 78 51 G A 80617425 3656 160 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATTCCTGTAGGCT 82659538 82659708 82659548 82659549 82659549 downstr_intron 31 1.775 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATTCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 69 65 0.85 0.85 0.85 NA NA NA NA NA 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -5.44941914983887e-05 0.00667546522493823 NA NA 0.84668951448328 0.809222736313205 0.00331048551671992 NA NA NA FALSE 0.117 1.104 . intron_variant MODIFIER RAB40B HGNC 18284 ENST00000571995 4/5 1 NA GGA G,A 8.237e-06 17:82659549 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 non_coding_transcript_exon_variant 0.257585 0.16848 0.04749 0.078448 0.493089482057633 0.046875 0.00383601041524839 FALSE 4.06296e-06 ENSE00001112252_002 ENSE00001112252 002 17 80617415 80617584 - 41 78 51 A G 80617441 3657 144 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAACGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659564 82659565 82659565 downstr_intron 15 1.375 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAACGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 17 33 0.85 0.85 0.85 NA NA NA NA NA 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -5.44941914984998e-05 0.00667546522493823 NA NA 0.84668951448328 0.809222736313205 0.00331048551671986 NA NA NA FALSE 0 -2.236 . intron_variant MODIFIER RAB40B HGNC 18284 ENST00000571995 4/5 1 NA CAT A,G 8.236e-06 17:82659565 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 non_coding_transcript_exon_variant -0.216099 0.07428 0.00222 0.078448 0.224597240002069 0.0476178 0.00383601041524839 FALSE 4.06131e-06 ENSE00001112252_003 ENSE00001112252 003 17 80617415 80617584 - 41 78 51 C T 80617448 3658 137 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTATAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659571 82659572 82659572 downstr_intron 8 1.2 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTATAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 349 282 0.964999137801992 0.962376980672756 0.963688059237374 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.166568255915353 0.142362389932986 0.84668951448328 0.809222736313205 NA 0.15446532292417 NA FALSE NA 0 -0.567 . splice_region_variant&intron_variant LOW RAB40B HGNC 18284 ENST00000571995 4/5 1 NA ACA C,T 2.471e-05 17:82659572 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 splice_region_variant 0.1066 0.08512 0.00446 0.162113 0.451921526300061 0.0476178 0.00383601041524839 FALSE 1.21834e-05 ENSE00001112252_004 ENSE00001112252 004 17 80617415 80617584 - 41 78 51 C T 80617461 3659 124 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCAATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659584 82659585 82659585 exon -6 0.935897435897436 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCAATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 11 38 0.85 0.85 0.85 NA NA NA NA NA 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -5.44941914984998e-05 0.00667546522493823 NA NA 0.84668951448328 0.809222736313205 0.00331048551671986 NA NA NA FALSE 1 5.837 . missense_variant MODERATE RAB40B HGNC 18284 ENST00000571995 4/6 rs202136186&COSM1750431 1 tolerated(0.05) benign(0.05) T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 TCG C,T 2.471e-05 17:82659585 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 missense_variant 4.097617 0.98868 0.97278 0.615465 0.997977030020889 0 0.00383601041524839 FALSE 2.43659e-05 ENSE00001112252_005 ENSE00001112252 005 17 80617415 80617584 - 41 78 51 G T 80617462 3660 123 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATAGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659585 82659586 82659586 exon -7 0.923076923076923 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATAGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 32 14 0 0 0 57 144 0.0226779675080064 0 0.0113389837540032 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -0.850054494191498 -0.843324534775062 -0.775752914378633 -0.82001459073977 0.84668951448328 0.809222736313205 -0.84668951448328 -0.797883752559202 0.0488057619240786 TRUE TRUE 0.104 -0.509 . synonymous_variant LOW RAB40B HGNC 18284 ENST00000571995 4/6 rs372054252 1 NA A:0 A:0.0001 CGA G,T 8.236e-06 17:82659586 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 synonymous_variant 1.55885 0.96061 0.2251 0.615465 0.836006246668885 0 0.00383601041524839 FALSE 8.1217e-06 ENSE00001112252_007 ENSE00001112252 007 17 80617415 80617584 - 41 78 51 T C 80617481 3662 104 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGGTCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659604 82659605 82659605 exon -26 0.67948717948718 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGGTCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 255 78 0.806928741048381 0.8 0.803464370524191 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.00849785916174195 -0.0200145907397702 0.84668951448328 0.809222736313205 NA -0.00575836578901412 NA FALSE NA 1 4.019 rs140084045 missense_variant MODERATE RAB40B HGNC 18284 ENST00000571995 4/6 rs140084045 1 tolerated(0.18) benign(0.001) NA C:0 C:0.0001 ATC T,C 8.236e-06 17:82659605 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 missense_variant 2.698914 0.99217 0.98096 0.615465 0.991377147245726 0 0.00383601041524839 FALSE 4.06065e-06 ENSE00001112252_008 ENSE00001112252 008 17 80617415 80617584 - 41 78 51 C T 80617487 3663 98 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGACATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659610 82659611 82659611 exon -32 0.602564102564103 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGACATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 112 718 0.997399160656879 0.952623100135906 0.975011130396392 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.19896827877024 0.132608509396135 0.84668951448328 0.809222736313205 NA 0.165788394083188 NA FALSE NA 1 7.555 . missense_variant MODERATE RAB40B HGNC 18284 ENST00000571995 4/6 rs374244317 1 deleterious(0.02) probably_damaging(0.956) NA T:0.0002 T:0 GCC C,T 8.236e-06 17:82659611 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 missense_variant 6.208471 0.99412 0.99145 0.615465 0.998562045536712 0 0.00383601041524839 FALSE 4.06072e-06 ENSE00001112252_009 ENSE00001112252 009 17 80617415 80617584 - 41 78 51 G A 80617489 3664 96 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGATGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659612 82659613 82659613 exon -34 0.576923076923077 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGATGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 471 390 0.823788155932165 0.881897817360525 0.852842986646345 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.0253572740455255 0.0618832266207551 0.84668951448328 0.809222736313205 NA 0.0436202503331403 NA FALSE NA 0.973 0.305 . synonymous_variant LOW RAB40B HGNC 18284 ENST00000571995 4/6 rs561361288 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 1.647e-05 17:82659613 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 synonymous_variant 0.739744 0.94975 0.4773 0.615465 0.581211406678406 0 0.00383601041524839 FALSE 1.62429e-05 ENSE00001112252_010 ENSE00001112252 010 17 80617415 80617584 - 41 78 51 G A 80617503 3665 82 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACTGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659626 82659627 82659627 exon 31 0.397435897435897 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACTGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 15 37 0.85 0.85 0.85 NA NA NA NA NA 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -5.44941914984998e-05 0.00667546522493823 NA NA 0.84668951448328 0.809222736313205 0.00331048551671986 NA NA NA FALSE 1 3.855 . missense_variant MODERATE RAB40B HGNC 18284 ENST00000571995 4/6 1 deleterious(0.05) probably_damaging(1) NA CGG G,A 1.647e-05 17:82659627 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 missense_variant 5.984055 0.98165 0.90838 0.615465 0.996968466263795 0 0.00383601041524839 FALSE 1.62429e-05 ENSE00001112252_011 ENSE00001112252 011 17 80617415 80617584 - 41 78 51 T G 80617506 3666 79 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGCACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659629 82659630 82659630 exon 28 0.358974358974359 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGCACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 47 150 0.820377336116882 0.960404387519759 0.890390861818321 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.0219464542302428 0.140389796779989 0.84668951448328 0.809222736313205 NA 0.0811681255051158 NA FALSE NA 1 7.77 . missense_variant MODERATE RAB40B HGNC 18284 ENST00000571995 4/6 1 deleterious(0.01) probably_damaging(1) NA TTC T,G 8.236e-06 17:82659630 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 missense_variant 5.474002 0.99355 0.99307 0.615465 0.996380978043882 0 0.00383601041524839 FALSE 4.06072e-06 ENSE00001112252_012 ENSE00001112252 012 17 80617415 80617584 - 41 78 51 C T 80617507 3667 78 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCAAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659630 82659631 82659631 exon 27 0.346153846153846 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCAAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 586 617 0.684312751000284 0.836568476320729 0.760440613660506 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA -0.114118130886356 0.0165538855809583 0.84668951448328 0.809222736313205 NA -0.0487821226526987 NA FALSE NA 0.751 -0.498 . synonymous_variant LOW RAB40B HGNC 18284 ENST00000571995 4/6 rs369710621 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0001 TCG C,T 0.0005436 17:82659631 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 synonymous_variant 1.964159 0.34448 0.02463 0.615465 0.809192553458912 0 0.00383601041524839 FALSE 0.000580692 ENSE00001112252_013 ENSE00001112252 013 17 80617415 80617584 - 41 78 51 G A 80617513 3668 72 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGATATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659636 82659637 82659637 exon 21 0.269230769230769 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGATATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 695 32 0.8 0.8 0.8 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.00156911811336091 -0.0200145907397702 0.84668951448328 0.809222736313205 NA -0.00922273631320464 NA FALSE NA 1 2.595 . synonymous_variant LOW RAB40B HGNC 18284 ENST00000571995 4/6 1 NA TGT G,A 8.236e-06 17:82659637 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 synonymous_variant 1.091501 0.98572 0.95411 0.615465 0.644432457193539 0 0.00383601041524839 FALSE 4.06065e-06 ENSE00001112252_014 ENSE00001112252 014 17 80617415 80617584 - 41 78 51 A C 80617526 3669 59 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGAGCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659649 82659650 82659650 exon 8 0.102564102564103 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGAGCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 76 720 0.90632812558421 0.800200538779458 0.853264332181834 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.107897243697571 -0.0198140519603127 0.84668951448328 0.809222736313205 NA 0.0440415958686292 NA FALSE NA 1 9.018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:82659650 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 missense_variant 6.322988 0.99414 0.99545 0.706298 0.994677586925081 0 0.00383601041524839 FALSE 4.06088e-06 ENSE00001112252_015 ENSE00001112252 015 17 80617415 80617584 - 41 78 51 A G 80617526 3670 59 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGACCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659649 82659650 82659650 exon 8 0.102564102564103 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGACCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 183 152 0 0.00428424706362863 0.00214212353181431 NA NA NA NA NA 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -0.850054494191498 -0.839040287711433 NA NA 0.84668951448328 0.809222736313205 -0.844547390951466 NA NA NA TRUE 1 9.018 NA NA NA RAB40B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB40B NA NA NA ENSG00000141542 ENSE00003585483 missense_variant 5.722215 0.99385 0.99508 0.706298 0.994799910203837 0 0.00383601041524839 FALSE 4.06088e-06 ENSE00001112252_016 ENSE00001112252 016 17 80617415 80617584 - 41 78 51 A G 80617529 3671 56 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGCGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659652 82659653 82659653 exon 5 0.0641025641025641 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGCGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 632 158 0.965330917794099 0.983228081264147 0.974279499529123 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.16690003590746 0.163213490524377 0.84668951448328 0.809222736313205 NA 0.165056763215918 NA FALSE NA 1 9.018 . missense_variant MODERATE RAB40B HGNC 18284 ENST00000571995 4/6 1 deleterious(0) probably_damaging(0.998) NA CAC A,G 8.236e-06 17:82659653 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 missense_variant 5.815961 0.99385 0.99508 0.706298 0.998190177937018 0 0.00383601041524839 FALSE 4.06101e-06 ENSE00001112252_017 ENSE00001112252 017 17 80617415 80617584 - 41 78 51 G A 80617540 3672 45 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTTCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659663 82659664 82659664 upstr_intron -7 -0.117647058823529 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTTCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 867 549 0.97451955960187 0.981854483802554 0.978187021702212 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.176088677715231 0.161839893062783 0.84668951448328 0.809222736313205 NA 0.168964285389007 NA FALSE NA 0 -0.427 . splice_region_variant&intron_variant LOW RAB40B HGNC 18284 ENST00000571995 3/5 1 NA GGA G,A 8.236e-06 17:82659664 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 splice_region_variant 0.759587 0.17509 0.02919 0.078448 0.623395856591207 0.228705 0.00383601041524839 FALSE 4.06147e-06 ENSE00001112252_018 ENSE00001112252 018 17 80617415 80617584 - 41 78 51 G T 80617542 3673 43 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTATCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659665 82659666 82659666 upstr_intron -9 -0.156862745098039 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTATCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 469 111 0.0185920818668263 0.0655340353974844 0.0420630586321553 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA -0.779838800019813 -0.754480555342286 0.84668951448328 0.809222736313205 NA -0.767159677681049 NA TRUE NA 0.009 0.092 . intron_variant MODIFIER RAB40B HGNC 18284 ENST00000571995 3/5 1 NA AGA G,T 8.236e-06 17:82659666 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 non_coding_transcript_exon_variant 0.188195 0.71755 0.16648 0.078448 0.712733231438807 0.228705 0.00383601041524839 FALSE 4.06164e-06 ENSE00001112252_020 ENSE00001112252 020 17 80617415 80617584 - 41 78 51 G A 80617552 3675 33 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGTCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659675 82659676 82659676 upstr_intron -19 -0.352941176470588 GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGTCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 251 298 0.881928756964595 0.970303997468021 0.926116377216308 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA 0.0834978750779557 0.15028940672825 0.84668951448328 0.809222736313205 NA 0.116893640903103 NA FALSE NA 0 -0.125 rs2279395 intron_variant MODIFIER RAB40B HGNC 18284 ENST00000571995 3/5 rs2279395 1 A:0.1222 A:0.0946 A:0.0807 NA A:0.1796 A:0.171 A:0.0798 A:0.1071 A:0.1857 GGC G,A 0.167 17:82659676 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 non_coding_transcript_exon_variant 0.083528 0.26901 0.06121 0.078448 0.350640879864912 0.121998 0.00383601041524839 FALSE 0.168261 ENSE00001112252_021 ENSE00001112252 021 17 80617415 80617584 - 41 78 51 C A 80617555 3676 30 GCTGTGCCTGCATCTGTGTTCTGCGTGCTTAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659678 82659679 82659679 upstr_intron -22 -0.411764705882353 GCTGTGCCTGCATCTGTGTTCTGCGTGCTTAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant NA NA NA NA NA 128 44 0.783536404584897 0.874225791671639 0.828881098128268 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 NA NA -0.0148944773017418 0.054211200931869 0.84668951448328 0.809222736313205 NA 0.0196583618150636 NA FALSE NA 0 -1.328 . intron_variant MODIFIER RAB40B HGNC 18284 ENST00000571995 3/5 rs200488513 1 A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 A:0.0005 A:0.003 TCA C,A 0.003039 17:82659679 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 non_coding_transcript_exon_variant 0.08062 0.16469 0.03708 0.078448 0.558885638393226 0.121998 0.00383601041524839 FALSE 0.00304395 ENSE00001112252_022 ENSE00001112252 022 17 80617415 80617584 - 41 78 51 A C 80617556 3677 29 GCTGTGCCTGCATCTGTGTTCTGCGTGCGGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659679 82659680 82659680 upstr_intron -23 -0.431372549019608 GCTGTGCCTGCATCTGTGTTCTGCGTGCGGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 87 42 0.0299229819575976 0 0.0149614909787988 229 1705 0.00529437299729059 0.0231413530261894 0.01421786301174 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -0.820131512233901 -0.843324534775062 -0.793136508889349 -0.796873237713581 0.84668951448328 0.809222736313205 -0.831728023504481 -0.795004873301465 0.0367231502030166 TRUE TRUE 0.001 0.378 . intron_variant MODIFIER RAB40B HGNC 18284 ENST00000571995 3/5 1 NA CAG A,C 1.647e-05 17:82659680 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 non_coding_transcript_exon_variant -0.048237 0.23289 0.09364 0.078448 0.332603590466074 0.121998 0.00383601041524839 FALSE 1.21922e-05 ENSE00001112252_023 ENSE00001112252 023 17 80617415 80617584 - 41 78 51 C T 80617560 3678 25 GCTGTGCCTGCATCTGTGTTCTGCATGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659683 82659684 82659684 upstr_intron -27 -0.509803921568627 GCTGTGCCTGCATCTGTGTTCTGCATGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 17 24 0.85 0.85 0.85 19 10 0.834793564237619 0.814492334827181 0.8246429495324 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -5.44941914984998e-05 0.00667546522493823 0.0363626823509803 -0.00552225591258904 0.84668951448328 0.809222736313205 0.00331048551671986 0.0154202132191956 0.0121097277024758 FALSE FALSE 0 -4.125 . intron_variant MODIFIER RAB40B HGNC 18284 ENST00000571995 3/5 rs368856048 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0.0003 ACG C,T 0.0002142 17:82659684 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 non_coding_transcript_exon_variant -0.215022 0.13111 0.01535 0.078448 0.669574275293296 0.121998 0.00383601041524839 FALSE 0.000211454 ENSE00001112252_024 ENSE00001112252 024 17 80617415 80617584 - 41 78 51 G A 80617561 3679 24 GCTGTGCCTGCATCTGTGTTCTGTGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT 82659538 82659708 82659684 82659685 82659685 upstr_intron -28 -0.529411764705882 GCTGTGCCTGCATCTGTGTTCTGTGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT GCTGTGCCTGCATCTGTGTTCTGCGTGCTGAGCCTGTGACCTCTCCCCCAGGGTGTGATCCTGGTCTATGACATTGCGAACCGCTGGTCTTTTGACGGCATTGATCGATGGATTAAGGAGATCGATGAGGTATGTTGTAGAAATGCCACTGCCCAAGATCCCTGTAGGCT mutant 34 73 0.85 0.85 0.85 NA NA NA NA NA 0.850054494191498 0.843324534775062 0.798430881886639 0.82001459073977 -5.44941914984998e-05 0.00667546522493823 NA NA 0.84668951448328 0.809222736313205 0.00331048551671986 NA NA NA FALSE 0 -0.291 . intron_variant MODIFIER RAB40B HGNC 18284 ENST00000571995 3/5 1 NA CGC G,A 8.237e-06 17:82659685 RAB40B HGNC Symbol protein_coding 43755 ENSG00000141542 ENSE00003585483 non_coding_transcript_exon_variant -0.156308 0.11826 0.00594 0.078448 0.69820418050473 0.121998 0.00383601041524839 FALSE 2.84803e-05 ENSE00001113279_000 ENSE00001113279 000 19 16240299 16240468 + 65 51 54 NA NA NA NA NA CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 NA NA NA NA NA NA TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG natural 764 1305 0.849282224984465 0.844898246475249 0.847090235729857 1972 3003 0.838979165822157 0.670475629694927 0.754727397758542 0.849282224984465 0.844898246475249 0.838979165822157 0.670475629694927 0 0 0 0 0.847090235729857 0.754727397758542 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003672157 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001113279_008 ENSE00001113279 008 19 16240299 16240468 + 65 51 54 G A 16240349 1334 51 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCATATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129538 16129539 16129539 upstr_intron -15 -0.215384615384615 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATATGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 45 599 0.803574884153574 0.81403097111601 0.808802927634792 0.849282224984465 0.844898246475249 0.838979165822157 0.670475629694927 NA NA -0.0354042816685829 0.143555341421083 0.847090235729857 0.754727397758542 NA 0.05407552987625 NA FALSE NA 0 -1.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003672157 intron_variant 0.973427 0.16837 0.04558 0.256867 0.847106153970337 0.143798 8.6570108559178e-06 FALSE 4.06319e-06 ENSE00001113279_013 ENSE00001113279 013 19 16240299 16240468 + 65 51 54 G T 16240379 1339 81 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGAGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129568 16129569 16129569 exon 16 0.313725490196078 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCTCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 671 490 0.730783331884047 0.8 0.765391665942023 0.849282224984465 0.844898246475249 0.838979165822157 0.670475629694927 NA NA -0.10819583393811 0.129524370305073 0.847090235729857 0.754727397758542 NA 0.0106642681834815 NA FALSE NA 1 9.615 NA NA NA CTD-2231E14.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC008894.2 NA NA NA ENSG00000269243 ENSE00003672157 missense_variant 6.839155 0.96696 0.98291 0.706548 0.997565440436472 0 NA NA 4.06702e-06 ENSE00001113279_BRK ENSE00001113279 BRK 19 16240299 16240468 + 65 51 54 A,G; T,T NA NA NA CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCGGCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCAAGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 NA NA NA NA NA NA TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACTTGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGCCGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG control 54 35 0 0 0 1156 182 0.0277065246280603 0 0.0138532623140302 0.849282224984465 0.844898246475249 0.838979165822157 0.670475629694927 -0.849282224984465 -0.844898246475249 -0.811272641194097 -0.670475629694927 0.847090235729857 0.754727397758542 -0.847090235729857 -0.740874135444512 0.106216100285345 TRUE TRUE NA NA NA NA NA CTD-2231E14.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC008894.2 NA NA NA ENSG00000269243 ENSE00003672157 NA NA NA NA NA NA NA NA NA NA ENSE00001113280_000 ENSE00001113280 000 19 16238779 16238948 + 57 66 47 NA NA NA NA NA GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 NA NA NA NA NA NA AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC natural 39 113 0.97974834508853 0.794578605421961 0.887163475255246 2541 1256 0.999024350384699 0.988953834369053 0.993989092376876 0.97974834508853 0.794578605421961 0.999024350384699 0.988953834369053 0 0 0 0 0.887163475255246 0.993989092376876 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001113280 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001113280_011 ENSE00001113280 011 19 16238779 16238948 + 57 66 47 G T 16238815 1303 37 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACAAGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128004 16128005 16128005 upstr_intron -21 -0.350877192982456 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCTTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 486 401 0.950785859373424 1 0.975392929686712 0.97974834508853 0.794578605421961 0.999024350384699 0.988953834369053 NA NA -0.0482384910112749 0.0110461656309471 0.887163475255246 0.993989092376876 NA -0.0185961626901639 NA FALSE NA 0 -1.577 NA NA NA CTD-2231E14.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC008894.2 NA NA NA ENSG00000269243 ENSE00001113280 non_coding_transcript_exon_variant -0.493778 0.16851 0.04723 0.256867 0.526303282215922 0.0825786 NA NA 8.1314e-06 ENSE00001113280_BRK ENSE00001113280 BRK 19 16238779 16238948 + 57 66 47 A,G; T,T NA NA NA AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACTTCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATCCGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC 16127968 16128138 NA NA NA NA NA NA AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACTTCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATCCGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC control 382 46 0 0 0 23 276 0 0.0517317499071474 0.0258658749535737 0.97974834508853 0.794578605421961 0.999024350384699 0.988953834369053 -0.97974834508853 -0.794578605421961 -0.999024350384699 -0.937222084461905 0.887163475255246 0.993989092376876 -0.887163475255246 -0.968123217423302 0.0809597421680565 TRUE TRUE NA NA NA NA NA CTD-2231E14.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC008894.2 NA NA NA ENSG00000269243 ENSE00001113280 NA NA NA NA NA NA NA NA NA NA ENSE00001114839_000 ENSE00001114839 000 12 51097873 51098042 + 50 81 39 NA NA NA NA NA ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 NA NA NA NA NA NA ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC natural 84 113 0.9970212980664 0.994485869243453 0.995753583654927 4207 6027 0.96172457207699 0.955790700205008 0.958757636140999 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 0 0 0 0 0.995753583654927 0.958757636140999 0 0 0 FALSE FALSE NA NA NA NA NA DIP2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIP2B NA NA NA ENSG00000066084 ENSE00003594291 NA NA NA NA NA NA NA 0.999668381879693 TRUE NA ENSE00001114839_001 ENSE00001114839 001 12 51097873 51098042 + 50 81 39 T C 51097915 1546 43 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGCCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704131 50704132 50704132 upstr_intron -8 -0.14 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGCCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 69 610 0.995128677397524 0.999937587610905 0.997533132504214 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.0334041053205341 0.0441468874058966 0.995753583654927 0.958757636140999 NA 0.0387754963632153 NA FALSE NA 0 0.264 . splice_region_variant&intron_variant&NMD_transcript_variant LOW DIP2B HGNC 29284 ENST00000546732 8/26 1 NA GTC T,C 8.236e-06 12:50704132 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 splice_region_variant -0.112496 0.27478 0.09372 0.163922 0.588180060623663 0.0923081 0.999668381879693 TRUE 4.29026e-06 ENSE00001114839_002 ENSE00001114839 002 12 51097873 51098042 + 50 81 39 C T 51097916 1547 44 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTTTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704132 50704133 50704133 upstr_intron -7 -0.12 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTTTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 591 1494 0.992537272745123 0.997542742536296 0.995040007640709 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.0308127006681327 0.0417520423312878 0.995753583654927 0.958757636140999 NA 0.0362823714997103 NA FALSE NA 0 0.15 . splice_region_variant&intron_variant&NMD_transcript_variant LOW DIP2B HGNC 29284 ENST00000546732 8/26 1 NA TCT C,T 8.236e-06 12:50704133 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 splice_region_variant 0.596559 0.30868 0.09665 0.163922 0.449899250412428 0.0923081 0.999668381879693 TRUE 4.23521e-06 ENSE00001114839_003 ENSE00001114839 003 12 51097873 51098042 + 50 81 39 G A 51097923 1548 51 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGATAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704139 50704140 50704140 exon 1 0.0123456790123457 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGATAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 553 324 0.989870134551669 0.993731564847805 0.991800849699737 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.0281455624746788 0.037940864642797 0.995753583654927 0.958757636140999 NA 0.0330432135587379 NA FALSE NA 1 7.668 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW DIP2B HGNC 29284 ENST00000546732 9/27 1 NA GGT G,A 7.413e-05 12:50704140 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 missense_variant 5.092276 0.99546 0.99444 0.732398 0.998325307671258 0 0.999668381879693 TRUE 4.60478e-05 ENSE00001114839_004 ENSE00001114839 004 12 51097873 51098042 + 50 81 39 G A 51097944 1549 72 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAAGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704160 50704161 50704161 exon 22 0.271604938271605 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAAGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 492 98 0.967170447831539 1 0.983585223915769 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.00544587575454858 0.0442092997949918 0.995753583654927 0.958757636140999 NA 0.0248275877747702 NA FALSE NA 1 9.503 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/27 1 NA AGG G,A 1.647e-05 12:50704161 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 missense_variant 5.434576 0.99023 0.99592 0.732398 0.998212168268609 0 0.999668381879693 TRUE 2.07464e-05 ENSE00001114839_005 ENSE00001114839 005 12 51097873 51098042 + 50 81 39 G C 51097945 1550 73 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGCCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704161 50704162 50704162 exon 23 0.283950617283951 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGCCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 2952 281 0.917751587261684 1 0.958875793630842 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA -0.0439729848153062 0.0442092997949918 0.995753583654927 0.958757636140999 NA 0.000118157489842785 NA FALSE NA 1 9.503 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/27 1 NA GGC G,C 8.236e-06 12:50704162 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 missense_variant 5.981017 0.99573 0.99772 0.732398 0.998404990697921 0 0.999668381879693 TRUE 4.15652e-06 ENSE00001114839_006 ENSE00001114839 006 12 51097873 51098042 + 50 81 39 T C 51097947 1551 75 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCCCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704163 50704164 50704164 exon 25 0.308641975308642 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCCCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 1062 184 1 1 1 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.0382754279230099 0.0442092997949918 0.995753583654927 0.958757636140999 NA 0.0412423638590008 NA FALSE NA 0.925 2.832 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/27 1 NA CTC T,C 8.236e-06 12:50704164 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 missense_variant 4.072611 0.97967 0.95915 0.732398 0.995548618115073 0 0.999668381879693 TRUE 8.23669e-06 ENSE00001114839_007 ENSE00001114839 007 12 51097873 51098042 + 50 81 39 C T 51097948 1552 76 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTTTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704164 50704165 50704165 exon 26 0.320987654320988 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTTTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 68 237 1 1 1 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.0382754279230099 0.0442092997949918 0.995753583654927 0.958757636140999 NA 0.0412423638590008 NA FALSE NA 0.913 1.918 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/27 1 NA TCT C,T 8.236e-06 12:50704165 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 missense_variant 6.564146 0.98447 0.96088 0.732398 0.997352606360801 0 0.999668381879693 TRUE 2.46725e-05 ENSE00001114839_008 ENSE00001114839 008 12 51097873 51098042 + 50 81 39 C T 51097951 1553 79 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCTTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704167 50704168 50704168 exon 29 0.358024691358025 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCTTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 1697 1455 0.822157446431382 0.987907904925489 0.905032675678435 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA -0.139567125645608 0.0321172047204804 0.995753583654927 0.958757636140999 NA -0.0537249604625638 NA FALSE NA 1 7.533 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/27 1 NA CCT C,T 8.236e-06 12:50704168 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 missense_variant 4.344574 0.99513 0.99588 0.732398 0.987403799982604 0 0.999668381879693 TRUE NA ENSE00001114839_009 ENSE00001114839 009 12 51097873 51098042 + 50 81 39 T A 51097954 1554 82 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGATGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704170 50704171 50704171 exon 32 0.395061728395062 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGATGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 1120 768 0.989107840520799 0.795793420141958 0.892450630331379 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.0273832684438091 -0.15999728006305 0.995753583654927 0.958757636140999 NA -0.0663070058096205 NA FALSE NA 1 7.747 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/27 1 NA GTT T,A 8.236e-06 12:50704171 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 missense_variant 6.747053 0.99378 0.9961 0.732398 0.98385953773293 0 0.999668381879693 TRUE 4.10607e-06 ENSE00001114839_010 ENSE00001114839 010 12 51097873 51098042 + 50 81 39 A G 51097971 1555 99 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCGTCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704187 50704188 50704188 exon -33 0.604938271604938 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCGTCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant 21 57 0.994208473395273 0.999213825309305 0.996711149352289 694 1236 1 1 1 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 -0.00281282467112676 0.00472795606585141 0.0382754279230099 0.0442092997949918 0.995753583654927 0.958757636140999 0.000957565697362328 0.0412423638590008 0.0402847981616385 FALSE FALSE 0.69 1.519 rs11169525 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/27 rs11169525 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0027 G:0 CAT A,G 0.0002553 12:50704188 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 missense_variant 0.406944 0.94297 0.53731 0.732398 0.468631453955699 0 0.999668381879693 TRUE 0.000196825 ENSE00001114839_012 ENSE00001114839 012 12 51097873 51098042 + 50 81 39 A G 51097979 1557 107 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCGGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704195 50704196 50704196 exon -25 0.703703703703704 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCGGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 1383 1147 0.998522749286964 0.997892372419943 0.998207560853453 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.036798177209974 0.0421016722149343 0.995753583654927 0.958757636140999 NA 0.0394499247124542 NA FALSE NA 0.677 0.04 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/27 1 NA CAG A,G 8.236e-06 12:50704196 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 synonymous_variant 0.983892 0.9633 0.78638 0.732398 0.76026727042752 0 0.999668381879693 TRUE 1.64221e-05 ENSE00001114839_013 ENSE00001114839 013 12 51097873 51098042 + 50 81 39 C T 51097986 1558 114 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGTTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704202 50704203 50704203 exon -18 0.790123456790123 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGTTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 1688 493 0.943915979703144 0.991364895978813 0.967640437840979 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA -0.0178085923738461 0.0355741957738049 0.995753583654927 0.958757636140999 NA 0.0088828016999794 NA FALSE NA 0.904 1.158 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:50704203 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 synonymous_variant 1.88126 0.96737 0.91391 0.732398 0.738780942610313 0 0.999668381879693 TRUE 4.11221e-06 ENSE00001114839_014 ENSE00001114839 014 12 51097873 51098042 + 50 81 39 C G 51097986 1559 114 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGGTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704202 50704203 50704203 exon -18 0.790123456790123 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGGTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 476 352 0.999480102040436 0.98813497075186 0.993807536396148 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.0377555299634461 0.0323442705468513 0.995753583654927 0.958757636140999 NA 0.0350499002551487 NA FALSE NA 0.904 1.158 NA NA NA DIP2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIP2B NA NA NA ENSG00000066084 ENSE00003594291 missense_variant 5.548553 0.97275 0.9647 0.732398 0.997734862767082 0 0.999668381879693 TRUE 4.11221e-06 ENSE00001114839_015 ENSE00001114839 015 12 51097873 51098042 + 50 81 39 G A 51098003 1560 131 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCAGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 50704219 50704220 50704220 exon -1 1 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCAGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant 18 19 1 1 1 NA NA NA NA NA 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 0.00297870193360006 0.00551413075654661 NA NA 0.995753583654927 0.958757636140999 0.00424641634507333 NA NA NA FALSE 0.007 -1.035 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW DIP2B HGNC 29284 ENST00000546732 9/27 rs372388686 1 NA A:0.0002 A:0 CGG G,A 1.647e-05 12:50704220 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 splice_region_variant 1.396953 0.31414 0.05058 0.732398 0.808424973455747 0 0.999668381879693 TRUE 2.07273e-05 ENSE00001114839_016 ENSE00001114839 016 12 51097873 51098042 + 50 81 39 A G 51098019 1561 147 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCGTGTTGATTTTGTTACATTTGATC 50704089 50704259 50704235 50704236 50704236 downstr_intron 16 1.42105263157895 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCGTGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 876 588 0.967621332716123 0.999461686339176 0.983541509527649 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.00589676063913247 0.0436709861341676 0.995753583654927 0.958757636140999 NA 0.0247838733866501 NA FALSE NA 0 -0.325 . intron_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/26 1 NA CAT A,G 8.236e-06 12:50704236 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 intron_variant 0.28292 0.195 0.04645 0.088506 0.552088968355878 0.0456277 0.999668381879693 TRUE 4.24463e-06 ENSE00001114839_018 ENSE00001114839 018 12 51097873 51098042 + 50 81 39 G C 51098024 1563 152 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTCATTTTGTTACATTTGATC 50704089 50704259 50704240 50704241 50704241 downstr_intron 21 1.55263157894737 ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTCATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC mutant NA NA NA NA NA 622 920 1 0.994271823865084 0.997135911932542 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA 0.0382754279230099 0.0384811236600758 0.995753583654927 0.958757636140999 NA 0.0383782757915428 NA FALSE NA 0.201 -0.148 . intron_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 9/26 1 NA TGA G,C 8.236e-06 12:50704241 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003594291 intron_variant 0.151047 0.20121 0.28568 0.088506 0.641683804963303 0.0456277 0.999668381879693 TRUE NA ENSE00001114839_BRK ENSE00001114839 BRK 12 51097873 51098042 + 50 81 39 A,G; T,T NA NA NA ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTTTGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGCCAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC 50704089 50704259 NA NA NA NA NA NA ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTTTGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGCCAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC ACTTTCTAAGAAAAAGCAAAGTTTTTCACTTACTTCATTTTGTCTCTTAGGTAATTCCAGTGAATTCTGCAGGCTCTCCTGTTGGGGATGTGCCATTCATCCGATCAGGATTGCTGGGGTTTGTAGGGCCGGTAAGTGATGCTTTCATGTTGATTTTGTTACATTTGATC control NA NA NA NA NA 24 586 0 0.0195431495197728 0.00977157475988641 0.9970212980664 0.994485869243453 0.96172457207699 0.955790700205008 NA NA -0.96172457207699 -0.936247550685235 0.995753583654927 0.958757636140999 NA -0.948986061381113 NA TRUE NA NA NA NA NA NA DIP2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIP2B NA NA NA ENSG00000066084 ENSE00003594291 NA NA NA NA NA NA NA 0.999668381879693 TRUE NA ENSE00001115463_000 ENSE00001115463 000 19 4429655 4429824 + 50 81 39 NA NA NA NA NA TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT 4429657 4429827 NA NA NA NA NA NA TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT natural 353 512 0.848445673624843 0.847830991008284 0.848138332316563 441 76 0.805830470556396 0.8 0.802915235278198 0.848445673624843 0.847830991008284 0.805830470556396 0.8 0 0 0 0 0.848138332316563 0.802915235278198 0 0 0 FALSE FALSE NA NA NA NA NA CHAF1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHAF1A NA NA NA ENSG00000167670 ENSE00001115463 NA NA NA NA NA NA NA 0.996226225687986 TRUE NA ENSE00001115463_002 ENSE00001115463 002 19 4429655 4429824 + 50 81 39 A G 4429669 311 15 TTCCTCCAGCCCCAGAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT 4429657 4429827 4429671 4429672 4429672 upstr_intron -36 -0.7 TTCCTCCAGCCCCAGAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT mutant NA NA NA NA NA 58 107 0.848881324042985 0.913892261756743 0.881386792899864 0.848445673624843 0.847830991008284 0.805830470556396 0.8 NA NA 0.0430508534865892 0.113892261756743 0.848138332316563 0.802915235278198 NA 0.078471557621666 NA FALSE NA 0 -0.273 . intron_variant MODIFIER CHAF1A HGNC 1910 ENST00000301280 9/14 1 NA AAA A,G 1.647e-05 19:4429672 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115463 intron_variant -0.047993 0.24156 0.16339 0.256867 0.711538964006468 0.057224 0.996226225687986 TRUE 1.21821e-05 ENSE00001115463_BRK ENSE00001115463 BRK 19 4429655 4429824 + 50 81 39 A,G; T,T NA NA NA TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCTTAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGCCAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT 4429657 4429827 NA NA NA NA NA NA TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCTTAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGCCAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT control NA NA NA NA NA 184 127 0 0 0 0.848445673624843 0.847830991008284 0.805830470556396 0.8 NA NA -0.805830470556396 -0.8 0.848138332316563 0.802915235278198 NA -0.802915235278198 NA TRUE NA NA NA NA NA NA CHAF1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHAF1A NA NA NA ENSG00000167670 ENSE00001115463 NA NA NA NA NA NA NA 0.996226225687986 TRUE NA ENSE00001115464_000 ENSE00001115464 000 19 4430502 4430671 + 44 93 33 NA NA NA NA NA CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTCTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAGGGGGAGGTCACCGGCTCAG 4430504 4430674 NA NA NA NA NA NA CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTCTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAGGGGGAGGTCACCGGCTCAG CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTCTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAGGGGGAGGTCACCGGCTCAG natural NA NA NA NA NA 480 460 0.999914232447372 0.987925672993284 0.993919952720328 NA NA 0.999914232447372 0.987925672993284 NA NA 0 0 NA 0.993919952720328 NA 0 NA FALSE NA NA NA NA NA NA CHAF1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHAF1A NA NA NA ENSG00000167670 ENSE00001115464 NA NA NA NA NA NA NA 0.996226225687986 TRUE NA ENSE00001115543_000 ENSE00001115543 000 19 4556915 4557084 - 48 63 59 NA NA NA NA NA TGCCAGGGCTGATTCGCAGGGGCCGGGACCGAGCCAGGGCCAACTCACCTCCTGTTTGCCCTTCATCCGACACACGTTTATGTCGCTGGGGTTAGATCTCCAGGTCAGCTTCTGCAGACAGAGAGAGCTGGTGAGGGGGTAACGGGTCCCAGCAGCCCTGAGTGACCCCG 4556902 4557072 NA NA NA NA NA NA CGGGGTCACTCAGGGCTGCTGGGACCCGTTACCCCCTCACCAGCTCTCTCTGTCTGCAGAAGCTGACCTGGAGATCTAACCCCAGCGACATAAACGTGTGTCGGATGAAGGGCAAACAGGAGGTGAGTTGGCCCTGGCTCGGTCCCGGCCCCTGCGAATCAGCCCTGGCA CGGGGTCACTCAGGGCTGCTGGGACCCGTTACCCCCTCACCAGCTCTCTCTGTCTGCAGAAGCTGACCTGGAGATCTAACCCCAGCGACATAAACGTGTGTCGGATGAAGGGCAAACAGGAGGTGAGTTGGCCCTGGCTCGGTCCCGGCCCCTGCGAATCAGCCCTGGCA natural NA NA NA NA NA 54 31 0.986968525795284 1 0.993484262897642 NA NA 0.986968525795284 1 NA NA 0 0 NA 0.993484262897642 NA 0 NA FALSE NA NA NA NA NA NA SEMA6B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA6B NA NA NA ENSG00000167680 ENSE00001115543 NA NA NA NA NA NA NA 0.742578966540981 FALSE NA ENSE00001115543_020 ENSE00001115543 020 19 4556915 4557084 - 48 63 59 A G 4557040 376 45 TGCCAGGGCTGATTCGCAGGGGCCGGGACCGAGCCAGGGCCAACTCACCTCCTGTTTGCCCTTCATCCGACACACGTTTATGTCGCTGGGGTTAGATCTCCAGGTCAGCTTCTGCAGACAGAGAGGGCTGGTGAGGGGGTAACGGGTCCCAGCAGCCCTGAGTGACCCCG 4556902 4557072 4557027 4557028 4557028 upstr_intron -15 -0.23728813559322 CGGGGTCACTCAGGGCTGCTGGGACCCGTTACCCCCTCACCAGCCCTCTCTGTCTGCAGAAGCTGACCTGGAGATCTAACCCCAGCGACATAAACGTGTGTCGGATGAAGGGCAAACAGGAGGTGAGTTGGCCCTGGCTCGGTCCCGGCCCCTGCGAATCAGCCCTGGCA CGGGGTCACTCAGGGCTGCTGGGACCCGTTACCCCCTCACCAGCTCTCTCTGTCTGCAGAAGCTGACCTGGAGATCTAACCCCAGCGACATAAACGTGTGTCGGATGAAGGGCAAACAGGAGGTGAGTTGGCCCTGGCTCGGTCCCGGCCCCTGCGAATCAGCCCTGGCA mutant NA NA NA NA NA 10 182 0.8 0.8 0.8 NA NA 0.986968525795284 1 NA NA -0.186968525795284 -0.2 NA 0.993484262897642 NA -0.193484262897642 NA FALSE NA 0.001 0.471 . intron_variant MODIFIER SEMA6B HGNC 10739 ENST00000586965 3/16 1 NA GAG A,G 8.239e-06 19:4557028 SEMA6B HGNC Symbol protein_coding 17215 ENSG00000167680 ENSE00001115543 intron_variant 1.334423 0.13396 0.03073 0.048788 0.897607693289922 0.107914 0.742578966540981 FALSE 8.28205e-06 ENSE00001115747_000 ENSE00001115747 000 17 643703 643872 + 42 96 32 NA NA NA NA NA TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCTTCACGGCAGAACTGAGCACTCCGTTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG 740462 740632 NA NA NA NA NA NA TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCTTCACGGCAGAACTGAGCACTCCGTTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCTTCACGGCAGAACTGAGCACTCCGTTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG natural 36 56 0.962357561086418 0.902563423297556 0.932460492191987 1027 475 0.974720778614277 0.777402341527248 0.876061560070763 0.962357561086418 0.902563423297556 0.974720778614277 0.777402341527248 0 0 0 0 0.932460492191987 0.876061560070763 0 0 0 FALSE FALSE NA NA NA NA NA FAM57A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM57A NA NA NA ENSG00000167695 ENSE00003573634 NA NA NA NA NA NA NA 0.0207651978444373 FALSE NA ENSE00001115747_017 ENSE00001115747 017 17 643703 643872 + 42 96 32 T C 643787 81 85 TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCCTCACGGCAGAACTGAGCACTCCGTTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG 740462 740632 740546 740547 740547 exon 43 0.447916666666667 TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCCTCACGGCAGAACTGAGCACTCCGTTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCTTCACGGCAGAACTGAGCACTCCGTTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG mutant 102 101 0.85 0.85 0.85 NA NA NA NA NA 0.962357561086418 0.902563423297556 0.974720778614277 0.777402341527248 -0.112357561086418 -0.0525634232975559 NA NA 0.932460492191987 0.876061560070763 -0.082460492191987 NA NA NA FALSE 1 6.183 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER FAM57A HGNC 29646 ENST00000570699 3/4 rs371563114 1 NA C:0.0002 C:0 CTT T,C 1.647e-05 17:740547 FAM57A HGNC Symbol protein_coding 10560 ENSG00000167695 ENSE00003573634 missense_variant 4.71521 0.97485 0.96273 0.730579 0.998300120951198 0 0.0207651978444373 FALSE 1.21878e-05 ENSE00001115747_022 ENSE00001115747 022 17 643703 643872 + 42 96 32 G A 643810 86 108 TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCTTCACGGCAGAACTGAGCACTCCATTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG 740462 740632 740569 740570 740570 exon -31 0.6875 TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCTTCACGGCAGAACTGAGCACTCCATTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG TTAACCTCCACTTACTTCCCCTTTTCGTTTCGTCATCCGCAGAGGCTCCGGGGAGACCTTGGGGACTTCTTTGTCGGCTGCATCTTCACGGCAGAACTGAGCACTCCGTTTGTGTCGCTGGGCAGGGTTCTGATTCAGGCATGTATGAATGAAATGACAGAGAGTGTGAG mutant 48 35 0.85 0.85 0.85 NA NA NA NA NA 0.962357561086418 0.902563423297556 0.974720778614277 0.777402341527248 -0.112357561086418 -0.0525634232975559 NA NA 0.932460492191987 0.876061560070763 -0.082460492191987 NA NA NA FALSE 0 -2.327 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER FAM57A HGNC 29646 ENST00000570699 3/4 1 NA CGT G,A 2.471e-05 17:740570 FAM57A HGNC Symbol protein_coding 10560 ENSG00000167695 ENSE00003573634 synonymous_variant 1.044228 0.16988 0.09062 0.730579 0.891152080554241 0 0.0207651978444373 FALSE 2.03211e-05 ENSE00001116859_000 ENSE00001116859 000 11 63680301 63680470 - 41 78 51 NA NA NA NA NA GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 NA NA NA NA NA NA GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT natural 1015 1122 0.831418095540628 0.827232174107183 0.829325134823905 1738 2242 0.878678170612361 0.811686952715237 0.845182561663799 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0 0 0 0 0.829325134823905 0.845182561663799 0 0 0 FALSE FALSE NA NA NA NA NA MARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RCOR2 NA NA NA ENSG00000167771 ENSE00001116859 NA NA NA NA NA NA NA 0.115753696587521 FALSE NA ENSE00001116859_001 ENSE00001116859 001 11 63680301 63680470 - 41 78 51 T C 63680321 1586 150 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTGGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912848 63912849 63912849 downstr_intron 21 1.525 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTGGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant NA NA NA NA NA 88 864 0.960629720596606 0.990626921534395 0.9756283210655 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 NA NA 0.0819515499842447 0.178939968819158 0.829325134823905 0.845182561663799 NA 0.130445759401701 NA FALSE NA 0 -1.012 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA CTA T,C 4.943e-05 11:63912849 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 intron_variant -0.030486 0.21007 0.03155 0 0.485620010071645 0.0598475 0.115753696587521 FALSE 4.48712e-05 ENSE00001116859_002 ENSE00001116859 002 11 63680301 63680470 - 41 78 51 G A 63680346 1587 125 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCTGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912873 63912874 63912874 exon -5 0.948717948717949 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCTGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 33 21 0.988212148325547 0.981206034479505 0.984709091402526 502 116 0.909954457973142 0.997297188214235 0.953625823093688 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.156794052784919 0.153973860372322 0.0312762873607801 0.185610235498999 0.829325134823905 0.845182561663799 0.155383956578621 0.108443261429889 0.0469406951487311 FALSE FALSE 1 3.197 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:63912874 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 3.471546 0.95548 0.85907 0.631515 0.982455855427769 0 0.115753696587521 FALSE 1.22494e-05 ENSE00001116859_003 ENSE00001116859 003 11 63680301 63680470 - 41 78 51 G C 63680346 1588 125 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCGGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912873 63912874 63912874 exon -5 0.948717948717949 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCGGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 68 77 0.85 0.85 0.85 NA NA NA NA NA 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928168 NA NA 0.829325134823905 0.845182561663799 0.0206748651760945 NA NA NA FALSE 1 3.197 NA NA NA MARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RCOR2 NA NA NA ENSG00000167771 ENSE00001116859 missense_variant 2.945727 0.95594 0.87184 0.631515 0.982632897621683 0 0.115753696587521 FALSE 4.08313e-06 ENSE00001116859_005 ENSE00001116859 005 11 63680301 63680470 - 41 78 51 C T 63680352 1590 119 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACACCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912879 63912880 63912880 exon -11 0.871794871794872 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACACCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 19 20 0.99635006952109 0.999440369841982 0.997895219681536 1037 865 0.960809824932445 0.998484359208353 0.979647092070399 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.164931973980462 0.172208195734799 0.0821316543200837 0.186797406493116 0.829325134823905 0.845182561663799 0.16857008485763 0.1344645304066 0.0341055544510305 FALSE FALSE 0.831 3.169 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 COSM929971 1 NA GCG C,T 8.237e-06 11:63912880 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 5.911322 0.95481 0.76277 0.631515 0.999050802957094 0 0.115753696587521 FALSE 4.0789e-06 ENSE00001116859_006 ENSE00001116859 006 11 63680301 63680470 - 41 78 51 G C 63680356 1591 115 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCAGTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912883 63912884 63912884 exon -15 0.82051282051282 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCAGTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 172 143 0 0 0 NA NA NA NA NA 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 -0.831418095540628 -0.827232174107183 NA NA 0.829325134823905 0.845182561663799 -0.829325134823905 NA NA NA TRUE 0.034 0.301 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA AGT G,C 1.647e-05 11:63912884 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 1.099081 0.51104 0.21108 0.631515 0.95262415638349 0 0.115753696587521 FALSE 8.15089e-06 ENSE00001116859_007 ENSE00001116859 007 11 63680301 63680470 - 41 78 51 G C 63680359 1592 112 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATGCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912886 63912887 63912887 exon -18 0.782051282051282 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATGCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 60 106 0.85 0.85 0.85 12 129 0.8 0.881801768586903 0.840900884293451 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928168 -0.0786781706123614 0.0701148158716658 0.829325134823905 0.845182561663799 0.0206748651760945 -0.00428167737034779 0.0249565425464423 FALSE FALSE 0 0.537 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA GGA G,C 2.471e-05 11:63912887 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 0.95554 0.34094 0.07782 0.631515 0.893180351998581 0 0.115753696587521 FALSE 1.63076e-05 ENSE00001116859_008 ENSE00001116859 008 11 63680301 63680470 - 41 78 51 C T 63680362 1593 109 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTAATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912889 63912890 63912890 exon -21 0.743589743589744 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTAATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 681 293 0 0 0 76 1368 0 0.0543738012817152 0.0271869006408576 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 -0.831418095540628 -0.827232174107183 -0.878678170612361 -0.757313151433522 0.829325134823905 0.845182561663799 -0.829325134823905 -0.817995661022942 0.0113294738009639 TRUE TRUE 1 5.414 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 rs376904142 1 NA T:0 T:0.0001 TCA C,T 2.471e-05 11:63912890 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 5.061477 0.92659 0.9059 0.631515 0.998214755273017 0 0.115753696587521 FALSE 2.03845e-05 ENSE00001116859_009 ENSE00001116859 009 11 63680301 63680470 - 41 78 51 A G 63680363 1594 108 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATCGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912890 63912891 63912891 exon -22 0.730769230769231 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATCGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 89 115 0.85 0.85 0.85 437 671 0.95009943866622 0.962431688374018 0.956265563520119 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928168 0.0714212680538587 0.150744735658782 0.829325134823905 0.845182561663799 0.0206748651760945 0.11108300185632 0.0904081366802257 FALSE FALSE 0 -3.716 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA CAA A,G 8.237e-06 11:63912891 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 synonymous_variant 0.87944 0.16004 0.01596 0.631515 0.689245217014775 0 0.115753696587521 FALSE 1.63031e-05 ENSE00001116859_010 ENSE00001116859 010 11 63680301 63680470 - 41 78 51 C T 63680368 1595 103 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCAGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912895 63912896 63912896 exon -27 0.666666666666667 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCAGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 194 395 0.847169430597459 0.85 0.848584715298729 241 891 0.966652191095253 0.891217616723903 0.928934903909578 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0157513350568311 0.0227678258928169 0.0879740204828912 0.0795306640086665 0.829325134823905 0.845182561663799 0.019259580474824 0.0837523422457788 0.0644927617709548 FALSE FALSE 1 5.995 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 rs573148733 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 2.471e-05 11:63912896 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 6.216366 0.9818 0.9678 0.631515 0.997632211429493 0 0.115753696587521 FALSE 1.63219e-05 ENSE00001116859_011 ENSE00001116859 011 11 63680301 63680470 - 41 78 51 G A 63680369 1596 102 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGTGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912896 63912897 63912897 exon -28 0.653846153846154 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGTGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 22 26 0.85 0.85 0.85 NA NA NA NA NA 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928167 NA NA 0.829325134823905 0.845182561663799 0.0206748651760945 NA NA NA FALSE 0 -4.674 rs148620245 downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 rs148620245 1 A:0.0016 A:0.0053 A:0.0014 NA A:0 A:0 A:0 A:0.0025 A:0 CGC G,A 0.0002224 11:63912897 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 synonymous_variant 1.927672 0.20315 0.01548 0.631515 0.917586858110086 0 0.115753696587521 FALSE 0.000204102 ENSE00001116859_012 ENSE00001116859 012 11 63680301 63680470 - 41 78 51 C T 63680371 1597 100 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGAGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912898 63912899 63912899 exon -30 0.628205128205128 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGAGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant NA NA NA NA NA 511 714 0.915334132942595 0.935605650863847 0.925469891903221 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 NA NA 0.0366559623302339 0.12391869814861 0.829325134823905 0.845182561663799 NA 0.080287330239422 NA FALSE NA 0.944 2.065 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA CCC C,T 8.237e-06 11:63912899 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 3.02081 0.9715 0.8357 0.631515 0.99589897378506 0 0.115753696587521 FALSE 4.0789e-06 ENSE00001116859_013 ENSE00001116859 013 11 63680301 63680470 - 41 78 51 C T 63680385 1598 86 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCACCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912912 63912913 63912913 exon 35 0.448717948717949 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCACCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 348 499 0.85 0.85 0.85 NA NA NA NA NA 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928169 NA NA 0.829325134823905 0.845182561663799 0.0206748651760946 NA NA NA FALSE 1 1.494 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA GCG C,T 2.471e-05 11:63912913 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 5.590541 0.94706 0.24881 0.631515 0.998817818126117 0 0.115753696587521 FALSE NA ENSE00001116859_014 ENSE00001116859 014 11 63680301 63680470 - 41 78 51 G A 63680386 1599 85 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGTGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912913 63912914 63912914 exon 34 0.435897435897436 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGTGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant NA NA NA NA NA 585 668 0.821851092796534 0.8 0.810925546398267 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 NA NA -0.0568270778158277 -0.0116869527152366 0.829325134823905 0.845182561663799 NA -0.0342570152655322 NA FALSE NA 1 0.936 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:63912914 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 7.29206 0.9688 0.54377 0.631515 0.999228391055301 0 0.115753696587521 FALSE 8.17702e-06 ENSE00001116859_015 ENSE00001116859 015 11 63680301 63680470 - 41 78 51 G T 63680386 1600 85 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGAGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912913 63912914 63912914 exon 34 0.435897435897436 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGAGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 272 397 0.845959115414036 0.85 0.847979557707018 110 862 0.78088261515866 0.81130772793369 0.796095171546175 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0145410198734086 0.0227678258928168 -0.0977955554537011 -0.000379224781546283 0.829325134823905 0.845182561663799 0.0186544228831127 -0.0490873901176237 0.0677418130007364 FALSE FALSE 1 0.936 NA NA NA MARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RCOR2 NA NA NA ENSG00000167771 ENSE00001116859 missense_variant 5.064361 0.95602 0.1907 0.631515 0.99360341849875 0 0.115753696587521 FALSE 4.08851e-06 ENSE00001116859_016 ENSE00001116859 016 11 63680301 63680470 - 41 78 51 G A 63680396 1601 75 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAATAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912923 63912924 63912924 exon 24 0.307692307692308 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAATAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant NA NA NA NA NA 593 48 0.804068292386817 0.8 0.802034146193408 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 NA NA -0.0746098782255445 -0.0116869527152367 0.829325134823905 0.845182561663799 NA -0.0431484154703906 NA FALSE NA 1 0.309 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA TGT G,A 1.648e-05 11:63912924 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 synonymous_variant 0.656449 0.9169 0.59882 0.631515 0.870039302561788 0 0.115753696587521 FALSE 1.22779e-05 ENSE00001116859_017 ENSE00001116859 017 11 63680301 63680470 - 41 78 51 G A 63680400 1602 71 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGATGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912927 63912928 63912928 exon 20 0.256410256410256 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGATGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 45 118 0.919387407990098 0.90076475284857 0.910076080419334 1430 348 0.760732032815815 0.820334190838148 0.790533111826982 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0879693124494703 0.0735325787413872 -0.117946137796546 0.00864723812291124 0.829325134823905 0.845182561663799 0.0807509455954287 -0.0546494498368174 0.135400395432246 FALSE FALSE 0.976 0.614 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:63912928 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 2.357424 0.91294 0.62058 0.631515 0.912076351052768 0 0.115753696587521 FALSE 1.63844e-05 ENSE00001116859_018 ENSE00001116859 018 11 63680301 63680470 - 41 78 51 G C 63680400 1603 71 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGAGGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912927 63912928 63912928 exon 20 0.256410256410256 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGAGGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 131 75 0.85 0.85 0.85 526 15 0.797788357993364 0.8 0.798894178996682 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593724 0.0227678258928168 -0.0808898126189972 -0.0116869527152367 0.829325134823905 0.845182561663799 0.0206748651760946 -0.0462883826671169 0.0669632478432115 FALSE FALSE 0.976 0.614 NA NA NA MARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RCOR2 NA NA NA ENSG00000167771 ENSE00001116859 missense_variant 2.488453 0.92371 0.79337 0.631515 0.93571262371144 0 0.115753696587521 FALSE 4.09611e-06 ENSE00001116859_020 ENSE00001116859 020 11 63680301 63680470 - 41 78 51 T C 63680410 1605 61 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCGTGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912937 63912938 63912938 exon 10 0.128205128205128 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCGTGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 40 125 0.85 0.85 0.85 53 91 0.821075368629419 0.919410344282308 0.870242856455863 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928167 -0.0576028019829429 0.107723391567071 0.829325134823905 0.845182561663799 0.0206748651760945 0.0250602947920643 0.00438542961596983 FALSE FALSE 1 3.653 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA ATG T,C 4.119e-05 11:63912938 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 0.509535 0.94674 0.85402 0.650006 0.963450983018393 0 0.115753696587521 FALSE 3.28071e-05 ENSE00001116859_021 ENSE00001116859 021 11 63680301 63680470 - 41 78 51 T G 63680413 1606 58 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGCGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912940 63912941 63912941 exon 7 0.0897435897435897 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGCGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 106 252 0.85 0.85 0.85 126 841 0.830264476174142 0.894089627378519 0.862177051776331 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928168 -0.0484136944382191 0.0824026746632825 0.829325134823905 0.845182561663799 0.0206748651760945 0.0169944901125317 0.00368037506356278 FALSE FALSE 0.976 2.877 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 rs561320686 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CTC T,G 2.471e-05 11:63912941 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 missense_variant 3.007249 0.95385 0.88925 0.650006 0.994797615911368 0 0.115753696587521 FALSE 2.46354e-05 ENSE00001116859_022 ENSE00001116859 022 11 63680301 63680470 - 41 78 51 C G 63680430 1607 41 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTCGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912957 63912958 63912958 upstr_intron -11 -0.196078431372549 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTCGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant NA NA NA NA NA 218 1071 1 0.994122506366413 0.997061253183206 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 NA NA 0.121321829387639 0.182435553651176 0.829325134823905 0.845182561663799 NA 0.151878691519407 NA FALSE NA 0 -0.667 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA CCA C,G 8.24e-06 11:63912958 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 intron_variant 1.580992 0.36266 0.08172 0 0.884076601811321 0.250213 0.115753696587521 FALSE NA ENSE00001116859_023 ENSE00001116859 023 11 63680301 63680470 - 41 78 51 T C 63680437 1608 34 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCGCTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912964 63912965 63912965 upstr_intron -18 -0.333333333333333 GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCGCTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 129 171 0.85 0.85 0.85 411 308 0.851774913923004 0.838174410332312 0.844974662127658 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928168 -0.0269032566893574 0.0264874576170749 0.829325134823905 0.845182561663799 0.0206748651760945 -0.000207899536141254 0.0208827647122358 FALSE FALSE 0 -1.014 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA GTG T,C 4.121e-05 11:63912965 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 intron_variant 0.730642 0.27305 0.03135 0 0.768982739324177 0.123235 0.115753696587521 FALSE 3.82581e-05 ENSE00001116859_024 ENSE00001116859 024 11 63680301 63680470 - 41 78 51 G A 63680442 1609 29 GGCCTGCCTGAGATGGGAGTCTGATATTTCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912969 63912970 63912970 upstr_intron -23 -0.431372549019608 GGCCTGCCTGAGATGGGAGTCTGATATTTCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 46 62 0.933126085268524 0.899752566451286 0.916439325859905 NA NA NA NA NA 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.101707989727897 0.0725203923441025 NA NA 0.829325134823905 0.845182561663799 0.0871141910359996 NA NA NA FALSE 0 0.071 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA GGA G,A 1.649e-05 11:63912970 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 intron_variant 1.008738 0.2893 0.03003 0 0.839794593776567 0.0693926 0.115753696587521 FALSE 2.15698e-05 ENSE00001116859_025 ENSE00001116859 025 11 63680301 63680470 - 41 78 51 A G 63680444 1610 27 GGCCTGCCTGAGATGGGAGTCTGATACTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912971 63912972 63912972 upstr_intron -25 -0.470588235294118 GGCCTGCCTGAGATGGGAGTCTGATACTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 39 71 0.925012478024157 0.872218377872061 0.898615427948109 713 50 0.64106244978466 0.802889773410959 0.721976111597809 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0935943824835289 0.0449862037648778 -0.237615720827702 -0.00879717930427792 0.829325134823905 0.845182561663799 0.0692902931242034 -0.12320645006599 0.192496743190193 FALSE FALSE 0 -2.866 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 rs368677762 1 NA G:0 G:0.0001 AAT A,G 2.473e-05 11:63912972 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 intron_variant 0.599043 0.14308 0.02473 0 0.785143755127252 0.0693926 0.115753696587521 FALSE 4.76897e-05 ENSE00001116859_026 ENSE00001116859 026 11 63680301 63680470 - 41 78 51 C T 63680448 1611 23 GGCCTGCCTGAGATGGGAGTCTAATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912975 63912976 63912976 upstr_intron -29 -0.549019607843137 GGCCTGCCTGAGATGGGAGTCTAATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 91 226 0.85 0.85 0.85 113 696 0.99170201791365 0.956480193166397 0.974091105540024 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928168 0.113023847301289 0.14479324045116 0.829325134823905 0.845182561663799 0.0206748651760945 0.128908543876225 0.10823367870013 FALSE FALSE 0.002 -0.15 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA TCA C,T 8.246e-06 11:63912976 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 intron_variant 1.374997 0.59906 0.12662 0 0.883836767737624 0.5624 0.115753696587521 FALSE NA ENSE00001116859_027 ENSE00001116859 027 11 63680301 63680470 - 41 78 51 C T 63680452 1612 19 GGCCTGCCTGAGATGGGAATCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912979 63912980 63912980 upstr_intron -33 -0.627450980392157 GGCCTGCCTGAGATGGGAATCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 83 142 0.85 0.85 0.85 1111 1038 0.831081726504724 0.920564345456629 0.875823035980676 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 0.0185819044593722 0.0227678258928168 -0.0475964441076376 0.108877392741392 0.829325134823905 0.845182561663799 0.0206748651760945 0.0306404743168773 0.00996560914078276 FALSE FALSE 0 0.005 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 1 NA ACT C,T 1.65e-05 11:63912980 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 intron_variant 1.598598 0.40317 0.14015 0 0.864482040452344 0.872929 0.115753696587521 FALSE 9.01234e-06 ENSE00001116859_028 ENSE00001116859 028 11 63680301 63680470 - 41 78 51 C T 63680459 1613 12 GGCCTGCCTGAAATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 63912986 63912987 63912987 upstr_intron -40 -0.764705882352941 GGCCTGCCTGAAATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT mutant 127 189 0.77771041075214 0.838279391921954 0.807994901337047 694 87 0.83202605506075 0.8 0.816013027530375 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 -0.0537076847884881 0.0110472178147707 -0.0466521155516111 -0.0116869527152367 0.829325134823905 0.845182561663799 -0.0213302334868587 -0.0291695341334239 0.00783930064656518 FALSE FALSE 0 -0.424 . downstream_gene_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 rs574769324 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C,T 5.778e-05 11:63912987 RCOR2 HGNC Symbol protein_coding 5623 ENSG00000167771 ENSE00001116859 intron_variant 1.370514 0.2379 0.04374 0 0.876165920786479 0.0694563 0.115753696587521 FALSE 8.20978e-05 ENSE00001116859_BRK ENSE00001116859 BRK 11 63680301 63680470 - 41 78 51 A,G; T,T NA NA NA GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCTTGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGCCATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT 63912828 63912998 NA NA NA NA NA NA GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCTTGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGCCATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT GGCCTGCCTGAGATGGGAGTCTGATATTCCTCCACTTCCTGGCCTTCCCAGGTACAGAGCATGAAGCAGACGAACAGCAGCCTGCGCCAAGCCCTGGAGGGCGGTATTGATCCACTACGCCCCCCGGAGGTATGGCTGCTCTTTAAGTTAGGGTGCAAAGGGGGGTTTCT control NA NA NA NA NA 367 1012 0 0.000677808154048136 0.000338904077024068 0.831418095540628 0.827232174107183 0.878678170612361 0.811686952715237 NA NA -0.878678170612361 -0.811009144561189 0.829325134823905 0.845182561663799 NA -0.844843657586775 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RCOR2 NA NA NA ENSG00000167771 ENSE00001116859 NA NA NA NA NA NA NA 0.115753696587521 FALSE NA ENSE00001117772_000 ENSE00001117772 000 17 73035256 73035425 - 48 63 59 NA NA NA NA NA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 NA NA NA NA NA NA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA natural 47 32 0.996294448212191 0.987500586485825 0.991897517349008 2733 2868 0.992182460009326 0.99396104145151 0.993071750730418 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 0 0 0 0 0.991897517349008 0.993071750730418 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003599114 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00001117772_008 ENSE00001117772 008 17 73035256 73035425 - 48 63 59 C G 73035284 2981 142 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCCTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039188 75039189 75039189 downstr_intron 20 1.42553191489362 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCCTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant 58 42 0.971863894321267 0.995540692332176 0.983702293326721 NA NA NA NA NA 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 -0.0244305538909244 0.00804010584635073 NA NA 0.991897517349008 0.993071750730418 -0.00819522402228684 NA NA NA FALSE 0 -0.437 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003599114 intron_variant -0.175155 0.25499 0.07173 0.156188 0.589916951602809 0.0494618 0.000257274838666869 FALSE 4.06197e-06 ENSE00001117772_018 ENSE00001117772 018 17 73035256 73035425 - 48 63 59 C A 73035343 2991 83 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTTTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039247 75039248 75039248 exon 24 0.380952380952381 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTTTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 59 885 0.804401517437119 0.8 0.80220075871856 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA -0.187780942572206 -0.19396104145151 0.991897517349008 0.993071750730418 NA -0.190870992011858 NA FALSE NA 0.517 1.063 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP5PD NA NA NA ENSG00000167863 ENSE00003599114 synonymous_variant 2.17028 0.72873 0.72797 0.706548 0.859251788261208 0 NA NA 4.06081e-06 ENSE00001117772_BRK ENSE00001117772 BRK 17 73035256 73035425 - 48 63 59 A,G; T,T NA NA NA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAATTGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGCCAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 NA NA NA NA NA NA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAATTGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGCCAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA control NA NA NA NA NA 43 111 0 0.0574347754502498 0.0287173877251249 0.996294448212191 0.987500586485825 0.992182460009326 0.99396104145151 NA NA -0.992182460009326 -0.93652626600126 0.991897517349008 0.993071750730418 NA -0.964354363005293 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP5PD NA NA NA ENSG00000167863 ENSE00003599114 NA NA NA NA NA NA NA NA NA NA ENSE00001117953_000 ENSE00001117953 000 17 74008049 74008218 - 38 84 48 NA NA NA NA NA GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 NA NA NA NA NA NA GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT natural 889 1087 0.848148089212856 0.85 0.849074044606428 1310 2347 0.886086782841512 0.950910265701324 0.918498524271418 0.848148089212856 0.85 0.886086782841512 0.950910265701324 0 0 0 0 0.849074044606428 0.918498524271418 0 0 0 FALSE FALSE NA NA NA NA NA EVPL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EVPL NA NA NA ENSG00000167880 ENSE00003579119 NA NA NA NA NA NA NA 6.48709103471533e-14 FALSE NA ENSE00001117953_002 ENSE00001117953 002 17 74008049 74008218 - 38 84 48 T C 74008084 3062 135 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTGAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012002 76012003 76012003 downstr_intron 3 1.08108108108108 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTGAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 107 344 0 0 0 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA -0.886086782841512 -0.950910265701324 0.849074044606428 0.918498524271418 NA -0.918498524271418 NA TRUE NA 0.994 1.234 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW EVPL HGNC 3503 ENST00000587569 17/19 1 NA TTA T,C 8.237e-06 17:76012003 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 splice_region_variant 0.210753 0.85319 0.82487 0.056701 0.553326448390674 0.267251 6.48709103471533e-14 FALSE 4.12919e-06 ENSE00001117953_003 ENSE00001117953 003 17 74008049 74008218 - 38 84 48 A T 74008085 3063 134 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGAAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012003 76012004 76012004 downstr_intron 2 1.05405405405405 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGAAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant 103 19 0 0.0346496453791528 0.0173248226895764 NA NA NA NA NA 0.848148089212856 0.85 0.886086782841512 0.950910265701324 -0.848148089212856 -0.815350354620847 NA NA 0.849074044606428 0.918498524271418 -0.831749221916852 NA NA NA TRUE 1 7.391 . splice_donor_variant&non_coding_transcript_variant HIGH EVPL HGNC 3503 ENST00000587569 17/19 1 NA TAC A,T 8.237e-06 17:76012004 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 splice_donor_variant 3.33992 0.98859 0.99456 0.056701 0.988620839600271 0.957097 6.48709103471533e-14 FALSE 4.12868e-06 ENSE00001117953_004 ENSE00001117953 004 17 74008049 74008218 - 38 84 48 A G 74008091 3064 128 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCCCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012009 76012010 76012010 exon -5 0.952380952380952 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCCCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 33 314 0.939944014781726 1 0.969972007390863 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA 0.0538572319402141 0.0490897342986761 0.849074044606428 0.918498524271418 NA 0.0514734831194451 NA FALSE NA 1 7.391 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA GAG A,G 8.237e-06 17:76012010 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant 5.023549 0.98845 0.99403 0.580535 0.998446588007208 0 6.48709103471533e-14 FALSE 4.12031e-06 ENSE00001117953_005 ENSE00001117953 005 17 74008049 74008218 - 38 84 48 T C 74008109 3065 110 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCGGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012027 76012028 76012028 exon -23 0.738095238095238 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCGGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant 10 10 0.85 0.85 0.85 255 402 0.974436623238916 0.95593737398738 0.965186998613148 0.848148089212856 0.85 0.886086782841512 0.950910265701324 0.00185191078714353 0 0.0883498403974037 0.00502710828605657 0.849074044606428 0.918498524271418 0.000925955393571765 0.0466884743417301 0.0457625189481584 FALSE FALSE 0.998 0.324 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA CTG T,C 8.237e-06 17:76012028 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant -0.005236 0.96134 0.75008 0.580535 0.969595893662787 0 6.48709103471533e-14 FALSE 1.2341e-05 ENSE00001117953_007 ENSE00001117953 007 17 74008049 74008218 - 38 84 48 G C 74008117 3067 102 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCAGCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012035 76012036 76012036 exon -31 0.642857142857143 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCAGCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 466 113 0.848015133362066 0.939151301066639 0.893583217214352 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA -0.0380716494794465 -0.0117589646346848 0.849074044606428 0.918498524271418 NA -0.0249153070570657 NA FALSE NA 0.795 0.037 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 rs549301779 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GGT G,C 8.237e-06 17:76012036 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant -0.363388 0.9612 0.7053 0.580535 0.546909456848388 0 6.48709103471533e-14 FALSE 4.11221e-06 ENSE00001117953_008 ENSE00001117953 008 17 74008049 74008218 - 38 84 48 G T 74008124 3068 95 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGAATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012042 76012043 76012043 exon -38 0.55952380952381 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGAATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant 12 19 0.85 0.85 0.85 596 460 0.823798318002047 0.862945475394656 0.843371896698351 0.848148089212856 0.85 0.886086782841512 0.950910265701324 0.00185191078714353 0 -0.0622884648394649 -0.0879647903066683 0.849074044606428 0.918498524271418 0.000925955393571765 -0.0751266275730666 0.0760525829666384 FALSE FALSE 0.019 1.99 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA TGC G,T 1.647e-05 17:76012043 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant 1.43116 0.25601 0.16196 0.580535 0.794762378812594 0 6.48709103471533e-14 FALSE NA ENSE00001117953_009 ENSE00001117953 009 17 74008049 74008218 - 38 84 48 C T 74008137 3069 82 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGAACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012055 76012056 76012056 exon 34 0.404761904761905 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGAACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 16 48 0.997399160656879 1 0.998699580328439 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA 0.111312377815367 0.0490897342986761 0.849074044606428 0.918498524271418 NA 0.0802010560570214 NA FALSE NA 1 6.312 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA TCC C,T 8.237e-06 17:76012056 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant 5.858196 0.98977 0.98537 0.580535 0.99907876026041 0 6.48709103471533e-14 FALSE 4.11787e-06 ENSE00001117953_010 ENSE00001117953 010 17 74008049 74008218 - 38 84 48 C T 74008139 3070 80 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCAGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012057 76012058 76012058 exon 32 0.380952380952381 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCAGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 311 94 0.807744065437008 0.829180344664195 0.818462205050602 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA -0.0783427174045036 -0.121729921037129 0.849074044606428 0.918498524271418 NA -0.100036319220816 NA FALSE NA 0 -0.798 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA CCG C,T 4.942e-05 17:76012058 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant 0.28176 0.13986 0.00579 0.580535 0.406014534547738 0 6.48709103471533e-14 FALSE 2.47241e-05 ENSE00001117953_012 ENSE00001117953 012 17 74008049 74008218 - 38 84 48 C G 74008143 3072 76 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGACAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012061 76012062 76012062 exon 28 0.333333333333333 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGACAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 81 140 0.959845395541483 1 0.979922697770742 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA 0.0737586126999712 0.0490897342986761 0.849074044606428 0.918498524271418 NA 0.0614241734993237 NA FALSE NA 0.958 2.802 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 rs375387796 1 NA TCT C,G 1.647e-05 17:76012062 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant 1.02687 0.90262 0.90533 0.580535 0.971718745928608 0 6.48709103471533e-14 FALSE 2.06255e-05 ENSE00001117953_013 ENSE00001117953 013 17 74008049 74008218 - 38 84 48 C T 74008145 3073 74 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCAAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012063 76012064 76012064 exon 26 0.30952380952381 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCAAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant 145 143 0.85 0.85 0.85 160 86 0.803017084903015 0.802931931365823 0.802974508134419 0.848148089212856 0.85 0.886086782841512 0.950910265701324 0.00185191078714353 0 -0.0830696979384966 -0.147978334335501 0.849074044606428 0.918498524271418 0.000925955393571765 -0.115524016136999 0.116449971530571 FALSE FALSE 0.997 2.944 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA TCG C,T 4.118e-05 17:76012064 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant 4.689946 0.97718 0.4755 0.580535 0.998484722966215 0 6.48709103471533e-14 FALSE 2.47748e-05 ENSE00001117953_014 ENSE00001117953 014 17 74008049 74008218 - 38 84 48 G C 74008147 3074 72 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGGCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012065 76012066 76012066 exon 24 0.285714285714286 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGGCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 453 644 0.955651103748457 0.948051843715791 0.951851473732124 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA 0.0695643209069446 -0.0028584219855331 0.849074044606428 0.918498524271418 NA 0.0333529494607058 NA FALSE NA 0.98 0.481 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA GGC G,C 8.237e-06 17:76012066 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant -0.017678 0.9606 0.76455 0.580535 0.300834862882666 0 6.48709103471533e-14 FALSE 4.13029e-06 ENSE00001117953_015 ENSE00001117953 015 17 74008049 74008218 - 38 84 48 T C 74008155 3075 64 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGGTCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012073 76012074 76012074 exon 16 0.19047619047619 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGGTCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 41 146 0.95 0.948932898737315 0.949466449368657 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA 0.0639132171584877 -0.00197736696400919 0.849074044606428 0.918498524271418 NA 0.0309679250972393 NA FALSE NA 1 1.709 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA ATC T,C 8.237e-06 17:76012074 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 missense_variant 0.884856 0.97295 0.89492 0.580535 0.938391936349579 0 6.48709103471533e-14 FALSE 4.14247e-06 ENSE00001117953_016 ENSE00001117953 016 17 74008049 74008218 - 38 84 48 C T 74008162 3076 57 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACACAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012080 76012081 76012081 exon 9 0.107142857142857 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACACAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant 71 119 0.85 0.85 0.85 176 92 0.857922145651969 0.852853257332332 0.85538770149215 0.848148089212856 0.85 0.886086782841512 0.950910265701324 0.00185191078714364 1.11022302462516e-16 -0.0281646371895428 -0.0980570083689923 0.849074044606428 0.918498524271418 0.000925955393571876 -0.0631108227792676 0.0640367781728394 FALSE FALSE 0.947 0.055 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 1 NA GCG C,T 1.647e-05 17:76012081 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 synonymous_variant 1.535797 0.92158 0.732 0.580535 0.250742156254254 0 6.48709103471533e-14 FALSE 3.32826e-05 ENSE00001117953_018 ENSE00001117953 018 17 74008049 74008218 - 38 84 48 G A 74008167 3078 52 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGTTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012085 76012086 76012086 exon 4 0.0476190476190476 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGTTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 165 192 0.8 0.939875571896667 0.869937785948333 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA -0.0860867828415121 -0.0110346938046568 0.849074044606428 0.918498524271418 NA -0.0485607383230844 NA FALSE NA 1 1.952 rs143463502 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 17/20 rs143463502 1 A:0.0036 A:0.0008 A:0 NA A:0 A:0.003 A:0.0143 A:0 A:0.0017 AGC G,A 0.002677 17:76012086 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 synonymous_variant 0.389806 0.96451 0.91122 0.580535 0.429542925391705 0 6.48709103471533e-14 FALSE 0.00265815 ENSE00001117953_019 ENSE00001117953 019 17 74008049 74008218 - 38 84 48 C T 74008174 3079 45 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGACAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012092 76012093 76012093 upstr_intron -4 -0.0625 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGACAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 1066 487 0.990416790908529 0.999529745659067 0.994973268283798 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA 0.104330008067017 0.0486194799577434 0.849074044606428 0.918498524271418 NA 0.0764747440123801 NA FALSE NA 0.744 1.07 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW EVPL HGNC 3503 ENST00000587569 16/19 rs368402025 1 NA T:0 T:0.0001 GCC C,T 4.119e-05 17:76012093 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 splice_region_variant 1.213376 0.66855 0.69602 0.056701 0.629035911817644 0.203767 6.48709103471533e-14 FALSE 4.21347e-05 ENSE00001117953_020 ENSE00001117953 020 17 74008049 74008218 - 38 84 48 C T 74008175 3080 44 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTAGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012093 76012094 76012094 upstr_intron -5 -0.0833333333333333 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTAGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 644 328 0.992955329555912 0.999517522765394 0.996236426160653 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA 0.1068685467144 0.0486072570640701 0.849074044606428 0.918498524271418 NA 0.0777379018892352 NA FALSE NA 0.006 -0.135 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW EVPL HGNC 3503 ENST00000587569 16/19 1 NA CCA C,T 8.238e-06 17:76012094 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 splice_region_variant 1.061553 0.20273 0.06034 0.056701 0.593287307053036 0.235647 6.48709103471533e-14 FALSE 4.2198e-06 ENSE00001117953_022 ENSE00001117953 022 17 74008049 74008218 - 38 84 48 A G 74008181 3082 38 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCCTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012099 76012100 76012100 upstr_intron -11 -0.208333333333333 GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCCTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant 13 37 0.85 0.85 0.85 1070 75 0.731992355339445 0.8 0.765996177669722 0.848148089212856 0.85 0.886086782841512 0.950910265701324 0.00185191078714353 0 -0.154094427502067 -0.150910265701324 0.849074044606428 0.918498524271418 0.000925955393571765 -0.152502346601696 0.153428301995267 FALSE FALSE 0 0.734 . intron_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 16/19 rs377171670 1 NA G:0.0002 G:0.0001 AAG A,G 9.063e-05 17:76012100 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 non_coding_transcript_exon_variant 1.068478 0.17503 0.03653 0.056701 0.767110058154468 0.176647 6.48709103471533e-14 FALSE 7.2559e-05 ENSE00001117953_023 ENSE00001117953 023 17 74008049 74008218 - 38 84 48 A C 74008188 3083 31 GGTGATTGGCATTTCCTGGCCTCCTGACTCGGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012106 76012107 76012107 upstr_intron -18 -0.354166666666667 GGTGATTGGCATTTCCTGGCCTCCTGACTCGGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant NA NA NA NA NA 191 568 0.979921052774231 0.904158211534763 0.942039632154497 0.848148089212856 0.85 0.886086782841512 0.950910265701324 NA NA 0.0938342699327186 -0.0467520541665606 0.849074044606428 0.918498524271418 NA 0.023541107883079 NA FALSE NA 0 0.195 . intron_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 16/19 1 NA CAG A,C 8.242e-06 17:76012107 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 non_coding_transcript_exon_variant 0.181899 0.22257 0.13617 0.056701 0.72003823627614 0.162747 6.48709103471533e-14 FALSE 4.38005e-06 ENSE00001117953_024 ENSE00001117953 024 17 74008049 74008218 - 38 84 48 A G 74008190 3084 29 GGTGATTGGCATTTCCTGGCCTCCTGACCCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 76012108 76012109 76012109 upstr_intron -20 -0.395833333333333 GGTGATTGGCATTTCCTGGCCTCCTGACCCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT mutant 44 60 0.85 0.85 0.85 60 554 0.896494243677558 0.888831426578723 0.89266283512814 0.848148089212856 0.85 0.886086782841512 0.950910265701324 0.00185191078714353 0 0.0104074608360456 -0.0620788391226009 0.849074044606428 0.918498524271418 0.000925955393571765 -0.0258356891432777 0.0267616445368494 FALSE FALSE 0 0.094 . intron_variant&non_coding_transcript_variant MODIFIER EVPL HGNC 3503 ENST00000587569 16/19 1 NA GAG A,G 8.243e-06 17:76012109 EVPL HGNC Symbol protein_coding 22950 ENSG00000167880 ENSE00003579119 non_coding_transcript_exon_variant 0.043565 0.19973 0.06148 0.056701 0.725428762609848 0.110894 6.48709103471533e-14 FALSE 4.40385e-06 ENSE00001117953_BRK ENSE00001117953 BRK 17 74008049 74008218 - 38 84 48 A,G; T,T NA NA NA GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCTTAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGCCAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT 76011967 76012137 NA NA NA NA NA NA GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCTTAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGCCAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT GGTGATTGGCATTTCCTGGCCTCCTGACTCTGGGTTCTTCCCTGGCAGAGGCTGACGCAGGAGATCCAGAGCCGAGAGCGGGACAGGGCCACAGCATCCCACCTCTCCCAGGCCCTGCAGGCAGCGCTCCAGGTAAGCAGCTTGCCTTCAGCTTGCCCCTCTCCATGCAT control 113 206 0.0231045119201152 0 0.0115522559600576 275 463 0 0.182287867858346 0.0911439339291731 0.848148089212856 0.85 0.886086782841512 0.950910265701324 -0.825043577292741 -0.85 -0.886086782841512 -0.768622397842978 0.849074044606428 0.918498524271418 -0.837521788646371 -0.827354590342245 0.0101671983041257 TRUE TRUE NA NA NA NA NA EVPL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EVPL NA NA NA ENSG00000167880 ENSE00003579119 NA NA NA NA NA NA NA 6.48709103471533e-14 FALSE NA ENSE00001118174_000 ENSE00001118174 000 17 76171575 76171744 - 35 90 45 NA NA NA NA NA CTGGGGTGGAAGCTCTCACACTCTTTCTCCACGTGCCCTTTCCAGTTCCCTGACATCGTGGAGTTCTGCGAGGCCATGGCCAACGCCGGGAAGACCGTAATTGTGGCTGCACTGGATGGGACCTTCCAGAGGAAGGTAAGGCGTCTGATCCAGGTCTGGAGCTGGGATTG 78175493 78175663 NA NA NA NA NA NA CTGGGGTGGAAGCTCTCACACTCTTTCTCCACGTGCCCTTTCCAGTTCCCTGACATCGTGGAGTTCTGCGAGGCCATGGCCAACGCCGGGAAGACCGTAATTGTGGCTGCACTGGATGGGACCTTCCAGAGGAAGGTAAGGCGTCTGATCCAGGTCTGGAGCTGGGATTG CTGGGGTGGAAGCTCTCACACTCTTTCTCCACGTGCCCTTTCCAGTTCCCTGACATCGTGGAGTTCTGCGAGGCCATGGCCAACGCCGGGAAGACCGTAATTGTGGCTGCACTGGATGGGACCTTCCAGAGGAAGGTAAGGCGTCTGATCCAGGTCTGGAGCTGGGATTG natural 38 36 0.99635006952109 0.997704992729417 0.997027531125254 2019 1898 0.90493897694803 0.985152242216716 0.945045609582373 0.99635006952109 0.997704992729417 0.90493897694803 0.985152242216716 0 0 0 0 0.997027531125254 0.945045609582373 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003511192 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001118256_000 ENSE00001118256 000 8 59536224 59536393 - 44 72 54 NA NA NA NA NA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 NA NA NA NA NA NA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA natural 10 20 0.994784284124077 0.998333544178411 0.996558914151244 1574 1084 0.996986644001843 0.87161443546396 0.934300539732902 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 0 0 0 0 0.996558914151244 0.934300539732902 0 0 0 FALSE FALSE NA NA NA NA NA NSMAF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSMAF NA NA NA ENSG00000035681 ENSE00001118256 NA NA NA NA NA NA NA 3.1837468420093e-08 FALSE NA ENSE00001118256_002 ENSE00001118256 002 8 59536224 59536393 - 44 72 54 T G 59536247 1263 147 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGACAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623687 58623688 58623688 downstr_intron 21 1.48837209302326 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGACAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 327 242 0.997326755194002 1 0.998663377597001 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA 0.00034011119215871 0.12838556453604 0.996558914151244 0.934300539732902 NA 0.0643628378640991 NA FALSE NA 0 -2.054 . downstream_gene_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 1 NA TTT T,G 1.647e-05 8:58623688 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 intron_variant 0.677938 0.12688 0.03801 0.322412 0.751896703592533 0.131045 3.1837468420093e-08 FALSE 8.24484e-06 ENSE00001118256_005 ENSE00001118256 005 8 59536224 59536393 - 44 72 54 T A 59536290 1266 104 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGTTGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623730 58623731 58623731 exon -23 0.694444444444444 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGTTGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 479 196 0.988077924688668 0.983500886639605 0.985789405664136 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA -0.00890871931317505 0.111886451175644 0.996558914151244 0.934300539732902 NA 0.0514888659312345 NA FALSE NA 1 5.344 . downstream_gene_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 1 NA ATC T,A 2.471e-05 8:58623731 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 missense_variant 6.023282 0.98441 0.98439 0.732398 0.993270603495555 0 3.1837468420093e-08 FALSE 2.84336e-05 ENSE00001118256_008 ENSE00001118256 008 8 59536224 59536393 - 44 72 54 G A 59536304 1269 90 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCTGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623744 58623745 58623745 exon 36 0.5 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCTGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 252 483 1 1 1 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA 0.00301335599815689 0.12838556453604 0.996558914151244 0.934300539732902 NA 0.0656994602670982 NA FALSE NA 0.473 -0.328 rs143061129 downstream_gene_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 rs143061129 1 NA A:0.0009 A:0.0001 CGG G,A 7.413e-05 8:58623745 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 synonymous_variant 0.787056 0.68977 0.20955 0.732398 0.754860289048856 0 3.1837468420093e-08 FALSE 4.46915e-05 ENSE00001118256_009 ENSE00001118256 009 8 59536224 59536393 - 44 72 54 C A 59536313 1270 81 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTTGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623753 58623754 58623754 exon 27 0.375 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTTGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 317 288 0.997241425534921 0.988068910409438 0.992655167972179 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA 0.00025478153307823 0.116454474945477 0.996558914151244 0.934300539732902 NA 0.0583546282392777 NA FALSE NA 1 2.45 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 8/8 1 NA CCA C,A 8.236e-06 8:58623754 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 missense_variant 2.590078 0.98793 0.97086 0.732398 0.984463427081208 0 3.1837468420093e-08 FALSE 4.0626e-06 ENSE00001118256_010 ENSE00001118256 010 8 59536224 59536393 - 44 72 54 A G 59536327 1271 67 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAACATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623767 58623768 58623768 exon 13 0.180555555555556 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAACATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 30 524 1 0.954843170530084 0.977421585265042 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA 0.00301335599815689 0.0832287350661239 0.996558914151244 0.934300539732902 NA 0.0431210455321404 NA FALSE NA 0.993 3.032 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 8/8 1 NA TAT A,G 8.236e-06 8:58623768 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 missense_variant 2.4701 0.95682 0.86756 0.732398 0.98824272840477 0 3.1837468420093e-08 FALSE NA ENSE00001118256_011 ENSE00001118256 011 8 59536224 59536393 - 44 72 54 G A 59536352 1272 42 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCTCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623792 58623793 58623793 upstr_intron -13 -0.222222222222222 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCTCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 126 38 1 0.998992174066779 0.99949608703339 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA 0.00301335599815689 0.127377738602819 0.996558914151244 0.934300539732902 NA 0.0651955473004879 NA FALSE NA 0 -0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:58623793 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 intron_variant 0.184538 0.20325 0.02297 0.163922 0.501835288168247 0.122281 3.1837468420093e-08 FALSE 0.000154663 ENSE00001118256_012 ENSE00001118256 012 8 59536224 59536393 - 44 72 54 G C 59536352 1273 42 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCGCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623792 58623793 58623793 upstr_intron -13 -0.222222222222222 AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCGCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 172 175 0.999279988747017 0.982337937040084 0.990808962893551 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA 0.00229334474517351 0.110723501576124 0.996558914151244 0.934300539732902 NA 0.0565084231606487 NA FALSE NA 0 -0.037 NA NA NA NSMAF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSMAF NA NA NA ENSG00000035681 ENSE00001118256 intron_variant -0.150194 0.26011 0.0994 0.163922 0.501952092080135 0.122281 3.1837468420093e-08 FALSE 4.07007e-06 ENSE00001118256_013 ENSE00001118256 013 8 59536224 59536393 - 44 72 54 A G 59536364 1274 30 AGTTTGGCACACTTCTTCTCTTCCTGTATCTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623804 58623805 58623805 upstr_intron -25 -0.444444444444444 AGTTTGGCACACTTCTTCTCTTCCTGTATCTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 27 494 0.809559829625617 1 0.904779914812808 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA -0.187426814376226 0.12838556453604 0.996558914151244 0.934300539732902 NA -0.0295206249200934 NA FALSE NA 0.039 1.15 rs142642956 intron_variant&NMD_transcript_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 7/7 rs142642956 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0011 G:0 AAA A,G 0.0001977 8:58623805 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 intron_variant 0.501599 0.31113 0.19439 0.163922 0.818644741262847 0.0995205 3.1837468420093e-08 FALSE 0.000150812 ENSE00001118256_015 ENSE00001118256 015 8 59536224 59536393 - 44 72 54 G A 59536374 1276 20 AGTTTGGCACACTTCTTCTTTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623814 58623815 58623815 upstr_intron -35 -0.62962962962963 AGTTTGGCACACTTCTTCTTTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 356 52 0.996836373117434 1 0.998418186558717 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA -0.000150270884408887 0.12838556453604 0.996558914151244 0.934300539732902 NA 0.0641176468258153 NA FALSE NA 0 -0.011 . intron_variant&NMD_transcript_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 7/7 rs372917390 1 NA A:0.0002 A:0.0001 AGA G,A 8.237e-06 8:58623815 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 intron_variant 1.279284 0.18898 0.01086 0.163922 0.795301486455329 0.111618 3.1837468420093e-08 FALSE NA ENSE00001118256_017 ENSE00001118256 017 8 59536224 59536393 - 44 72 54 A C 59536381 1278 13 AGTTTGGCACACGTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623821 58623822 58623822 upstr_intron -42 -0.759259259259259 AGTTTGGCACACGTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 22 271 1 1 1 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA 0.00301335599815689 0.12838556453604 0.996558914151244 0.934300539732902 NA 0.0656994602670982 NA FALSE NA 0 1.419 . intron_variant&NMD_transcript_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 7/7 1 NA AAG A,C 8.237e-06 8:58623822 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 intron_variant 0.215371 0.18716 0.20152 0.163922 0.762793858084702 0.090033 3.1837468420093e-08 FALSE 4.1132e-06 ENSE00001118256_018 ENSE00001118256 018 8 59536224 59536393 - 44 72 54 G A 59536382 1279 12 AGTTTGGCACATTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 58623822 58623823 58623823 upstr_intron -43 -0.777777777777778 AGTTTGGCACATTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA mutant NA NA NA NA NA 500 79 1 1 1 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 NA NA 0.00301335599815689 0.12838556453604 0.996558914151244 0.934300539732902 NA 0.0656994602670982 NA FALSE NA 0.001 0.641 . intron_variant&NMD_transcript_variant MODIFIER NSMAF HGNC 8017 ENST00000518159 7/7 1 NA AGT G,A 3.295e-05 8:58623823 NSMAF HGNC Symbol protein_coding 76340 ENSG00000035681 ENSE00001118256 intron_variant 0.434531 0.18632 0.11897 0.163922 0.567296614944478 0.0489136 3.1837468420093e-08 FALSE 2.05866e-05 ENSE00001118256_BRK ENSE00001118256 BRK 8 59536224 59536393 - 44 72 54 A,G; T,T NA NA NA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTTTGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGCCAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA 58623664 58623834 NA NA NA NA NA NA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTTTGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGCCAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA AGTTTGGCACACTTCTTCTCTTCCTGTATTTTGATATCTTCCCCTTTTTGTTAGGGCAAAATGGAATATGTTTTTGAATTGGATGTTCCCGGGAAAGTGGAAGATGTTGTGGAGACGTTGCTTCAGGTAAGCACTTGCTGGGTAGAAAATTCAAAGCAAACTGAGGCAAA control 117 39 0.0657396922247427 0 0.0328698461123714 NA NA NA NA NA 0.994784284124077 0.998333544178411 0.996986644001843 0.87161443546396 -0.929044591899334 -0.998333544178411 NA NA 0.996558914151244 0.934300539732902 -0.963689068038872 NA NA NA TRUE NA NA NA NA NA NSMAF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NSMAF NA NA NA ENSG00000035681 ENSE00001118256 NA NA NA NA NA NA NA 3.1837468420093e-08 FALSE NA ENSE00001119132_000 ENSE00001119132 000 11 61675005 61675174 - 32 96 42 NA NA NA NA NA CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 NA NA NA NA NA NA GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG natural 203 236 0.965727034501495 0.964645186783806 0.96518611064265 2361 2557 0.982990382579262 0.940563890924553 0.961777136751907 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 0 0 0 0 0.96518611064265 0.961777136751907 0 0 0 FALSE FALSE NA NA NA NA NA RAB3IL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB3IL1 NA NA NA ENSG00000167994 ENSE00001119132 NA NA NA NA NA NA NA 0.000894540821499919 FALSE NA ENSE00001119132_001 ENSE00001119132 001 11 61675005 61675174 - 32 96 42 C T 61675019 1438 156 CCCCAAGTTGTTCCTGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907546 61907547 61907547 downstr_intron 18 1.58064516129032 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCAGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 681 357 0.999515548117783 1 0.999757774058892 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0165251655385211 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0379806373069842 NA FALSE NA 0 -2.629 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CCG C,T 8.237e-06 11:61907547 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant 0.345038 0.2719 0.0098 0 0.855504009537682 0.0841578 0.000894540821499919 FALSE 1.63035e-05 ENSE00001119132_002 ENSE00001119132 002 11 61675005 61675174 - 32 96 42 G A 61675020 1439 155 CCCCAAGTTGTTCCCACGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907547 61907548 61907548 downstr_intron 17 1.54838709677419 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGTGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 101 480 1 1 1 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0170096174207377 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0382228632480925 NA FALSE NA 0.001 0.224 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CGC G,A 1.647e-05 11:61907548 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant 0.159417 0.26484 0.07992 0 0.849651749422746 0.0841578 0.000894540821499919 FALSE 1.62971e-05 ENSE00001119132_003 ENSE00001119132 003 11 61675005 61675174 - 32 96 42 C T 61675021 1440 154 CCCCAAGTTGTTCCCGTGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907548 61907549 61907549 downstr_intron 16 1.51612903225806 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCACGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 171 310 1 0.998137016725158 0.999068508362579 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0170096174207377 0.0575731258006057 0.96518611064265 0.961777136751907 NA 0.0372913716106717 NA FALSE NA 0 -2.012 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs369259431 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 GCG C,T 0.00014 11:61907549 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant 0.11632 0.19409 0.03473 0 0.789942141848584 0.0841578 0.000894540821499919 FALSE 0.000162942 ENSE00001119132_004 ENSE00001119132 004 11 61675005 61675174 - 32 96 42 G A 61675022 1441 153 CCCCAAGTTGTTCCCGCACCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907549 61907550 61907550 downstr_intron 15 1.48387096774194 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGTGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 326 779 0.993748311503437 0.997463061172606 0.995605686338022 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0107579289241752 0.0568991702480537 0.96518611064265 0.961777136751907 NA 0.0338285495861144 NA FALSE NA 0 -0.446 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs551615985 1 A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 CGC G,A 0.0003624 11:61907550 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant 0.066294 0.2029 0.03676 0 0.815962744881331 0.0841578 0.000894540821499919 FALSE 0.000309653 ENSE00001119132_005 ENSE00001119132 005 11 61675005 61675174 - 32 96 42 C T 61675025 1442 150 CCCCAAGTTGTTCCCGCGCCTAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907552 61907553 61907553 downstr_intron 12 1.38709677419355 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTAGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 15 25 1 1 1 509 426 0.995487930169874 0.999462181462009 0.997475055815942 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 0.0342729654985051 0.0353548132161945 0.0124975475906115 0.0588982905374568 0.96518611064265 0.961777136751907 0.0348138893573498 0.0356979190640341 0.000884029706684331 FALSE FALSE 0.275 1.21 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs571141121 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCA C,T 0.0001977 11:61907553 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant 0.157314 0.14398 0.05096 0 0.824775621051402 0.0841578 0.000894540821499919 FALSE 0.000150562 ENSE00001119132_006 ENSE00001119132 006 11 61675005 61675174 - 32 96 42 C T 61675029 1443 146 CCCCAAGTTGTTCCCGCGCCCAGCTGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907556 61907557 61907557 downstr_intron 8 1.25806451612903 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCAGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 27 31 0.995663223102896 0.997959955195535 0.996811589149215 NA NA NA NA NA 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 0.0299361886014007 0.0333147684117298 NA NA 0.96518611064265 0.961777136751907 0.0316254785065652 NA NA NA FALSE 0 -2.062 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CCG C,T 2.471e-05 11:61907557 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 splice_region_variant 0.275828 0.23735 0.03284 0 0.689425542992113 0.0841578 0.000894540821499919 FALSE 2.84826e-05 ENSE00001119132_007 ENSE00001119132 007 11 61675005 61675174 - 32 96 42 G A 61675030 1444 145 CCCCAAGTTGTTCCCGCGCCCAGCCAGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907557 61907558 61907558 downstr_intron 7 1.2258064516129 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACTGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 370 381 0.999106782889741 1 0.999553391444871 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0161164003104788 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.037776254692963 NA FALSE NA 0 -3.18 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CGG G,A 8.237e-06 11:61907558 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 splice_region_variant -0.465898 0.13833 0.01606 0 0.772282944941961 0.0841578 0.000894540821499919 FALSE 4.06921e-06 ENSE00001119132_008 ENSE00001119132 008 11 61675005 61675174 - 32 96 42 G C 61675031 1445 144 CCCCAAGTTGTTCCCGCGCCCAGCCGCTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907558 61907559 61907559 downstr_intron 6 1.19354838709677 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACAGCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 709 1398 0.979699328997943 0.988630119820426 0.984164724409184 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA -0.00329105358131976 0.0480662288958736 0.96518611064265 0.961777136751907 NA 0.0223875876572769 NA FALSE NA 0 -0.869 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:61907559 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 splice_region_variant -0.19422 0.24179 0.02242 0 0.469508247755288 0.0841578 0.000894540821499919 FALSE 3.66154e-05 ENSE00001119132_009 ENSE00001119132 009 11 61675005 61675174 - 32 96 42 G A 61675031 1446 144 CCCCAAGTTGTTCCCGCGCCCAGCCGATGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907558 61907559 61907559 downstr_intron 6 1.19354838709677 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACATCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 27 17 0.998661588683855 1 0.999330794341927 288 494 0.994094440189516 1 0.997047220094758 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 0.0329345541823597 0.0353548132161945 0.0111040576102533 0.0594361090754473 0.96518611064265 0.961777136751907 0.0341446836992771 0.0352700833428503 0.00112539964357322 FALSE FALSE 0 -0.869 NA NA NA RAB3IL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB3IL1 NA NA NA ENSG00000167994 ENSE00001119132 splice_region_variant -0.07583 0.23756 0.02089 0 0.793552686327841 0.0841578 0.000894540821499919 FALSE 4.06838e-06 ENSE00001119132_010 ENSE00001119132 010 11 61675005 61675174 - 32 96 42 T C 61675032 1447 143 CCCCAAGTTGTTCCCGCGCCCAGCCGGCGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907559 61907560 61907560 downstr_intron 5 1.16129032258065 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACGCCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 63 386 0.964080927152993 0.994386357587754 0.979233642370373 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA -0.0189094554262692 0.0538224666632009 0.96518611064265 0.961777136751907 NA 0.0174565056184658 NA FALSE NA 0 -0.867 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA GTG T,C 1.647e-05 11:61907560 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 splice_region_variant -0.554824 0.23273 0.01471 0 0.296067106234198 0.13881 0.000894540821499919 FALSE 1.62717e-05 ENSE00001119132_011 ENSE00001119132 011 11 61675005 61675174 - 32 96 42 C A 61675052 1448 123 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCAGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907579 61907580 61907580 exon -16 0.84375 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACTGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 38 31 0.999059120369103 1 0.999529560184552 NA NA NA NA NA 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 0.0333320858676084 0.0353548132161945 NA NA 0.96518611064265 0.961777136751907 0.0343434495419014 NA NA NA FALSE 0 -2.587 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:61907580 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 synonymous_variant 2.316769 0.24374 0.06472 0.787689 0.888991780391168 0 0.000894540821499919 FALSE 2.84588e-05 ENSE00001119132_012 ENSE00001119132 012 11 61675005 61675174 - 32 96 42 C T 61675052 1449 123 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCTGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907579 61907580 61907580 exon -16 0.84375 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACAGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 548 745 0.994981147391951 0.995192675758642 0.995086911575296 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0119907648126883 0.054628784834089 0.96518611064265 0.961777136751907 NA 0.0333097748233886 NA FALSE NA 0 -2.587 NA NA NA RAB3IL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB3IL1 NA NA NA ENSG00000167994 ENSE00001119132 synonymous_variant 2.041553 0.23701 0.04792 0.787689 0.927253870751145 0 0.000894540821499919 FALSE 4.06554e-06 ENSE00001119132_013 ENSE00001119132 013 11 61675005 61675174 - 32 96 42 C T 61675055 1450 120 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTTAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907582 61907583 61907583 exon -19 0.8125 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTAACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 330 165 1 1 1 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0170096174207377 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0382228632480925 NA FALSE NA 1 0.638 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA TCA C,T 8.237e-06 11:61907583 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 synonymous_variant 1.726176 0.95244 0.77248 0.787689 0.909470599123356 0 0.000894540821499919 FALSE 8.13107e-06 ENSE00001119132_014 ENSE00001119132 014 11 61675005 61675174 - 32 96 42 C A 61675064 1451 111 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCAAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907591 61907592 61907592 exon -28 0.71875 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTTGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 1070 1196 0.999961532657758 0.99960309039649 0.999782311527124 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0169711500784957 0.0590391994719375 0.96518611064265 0.961777136751907 NA 0.0380051747752166 NA FALSE NA 0.998 0.664 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CCA C,A 8.236e-06 11:61907592 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 synonymous_variant 2.13108 0.95279 0.84414 0.787689 0.896432595388526 0 0.000894540821499919 FALSE 8.12889e-06 ENSE00001119132_015 ENSE00001119132 015 11 61675005 61675174 - 32 96 42 C T 61675070 1452 105 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCTTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907597 61907598 61907598 exon -34 0.65625 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAAGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 14 26 0.996447087138812 0.999086410593116 0.997766748865964 289 732 0.992950804879801 0.997464771704235 0.995207788292018 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 0.0307200526373168 0.0344412238093104 0.00996042230053895 0.0569008807796824 0.96518611064265 0.961777136751907 0.0325806382233136 0.0334306515401107 0.000850013316797071 FALSE FALSE 1 0.996 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:61907598 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 synonymous_variant 1.845116 0.94649 0.81098 0.787689 0.923622273628306 0 0.000894540821499919 FALSE 1.6259e-05 ENSE00001119132_016 ENSE00001119132 016 11 61675005 61675174 - 32 96 42 C G 61675070 1453 105 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCGTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907597 61907598 61907598 exon -34 0.65625 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACACGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 12 19 0.997346000368666 0.965778383659127 0.981562192013897 98 596 1 1 1 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 0.0316189658671709 0.00113319687532198 0.0170096174207377 0.0594361090754473 0.96518611064265 0.961777136751907 0.0163760813712465 0.0382228632480925 0.021846781876846 FALSE FALSE 1 0.996 NA NA NA RAB3IL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB3IL1 NA NA NA ENSG00000167994 ENSE00001119132 missense_variant 5.614983 0.94774 0.84307 0.787689 0.996930461395366 0 0.000894540821499919 FALSE 4.06474e-06 ENSE00001119132_018 ENSE00001119132 018 11 61675005 61675174 - 32 96 42 T C 61675083 1455 92 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCCCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907610 61907611 61907611 exon -47 0.520833333333333 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGGGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 156 112 1 1 1 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0170096174207377 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0382228632480925 NA FALSE NA 1 2.821 rs185686820 upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs185686820 1 NA CTC T,C 8.236e-06 11:61907611 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 missense_variant 3.911075 0.9454 0.83236 0.718356 0.998119571942924 0 0.000894540821499919 FALSE NA ENSE00001119132_020 ENSE00001119132 020 11 61675005 61675174 - 32 96 42 C T 61675086 1457 89 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCTGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907613 61907614 61907614 exon 47 0.489583333333333 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCAGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 342 198 0.996828733009488 1 0.998414366504744 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0138383504302259 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0366372297528366 NA FALSE NA 1 6.085 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs536709910&COSM929542 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 0.0001977 11:61907614 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 missense_variant 8.370588 0.97874 0.92727 0.718356 0.999535935047396 0 0.000894540821499919 FALSE 0.000158546 ENSE00001119132_021 ENSE00001119132 021 11 61675005 61675174 - 32 96 42 C A 61675088 1458 87 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGAACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907615 61907616 61907616 exon 45 0.46875 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTTCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 228 1728 0.997260662189718 0.950166296580716 0.973713479385217 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0142702796104558 0.00960240565616366 0.96518611064265 0.961777136751907 NA 0.0119363426333097 NA FALSE NA 0.966 0.06 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs200351259 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GCA C,A 0.001054 11:61907616 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 synonymous_variant 2.487491 0.93187 0.67082 0.718356 0.931698239884059 0 0.000894540821499919 FALSE 0.00120324 ENSE00001119132_022 ENSE00001119132 022 11 61675005 61675174 - 32 96 42 T C 61675093 1459 82 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTCGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907620 61907621 61907621 exon 40 0.416666666666667 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCGAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 72 38 0.84865437639368 0.987065167247505 0.917859771820593 52 219 1 1 1 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 -0.117072658107815 0.0224199804636999 0.0170096174207377 0.0594361090754473 0.96518611064265 0.961777136751907 -0.0473263388220574 0.0382228632480925 0.0855492020701499 FALSE FALSE 0.978 2.626 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA TTG T,C 8.236e-06 11:61907621 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 missense_variant 5.213437 0.95149 0.82948 0.718356 0.997833977828622 0 0.000894540821499919 FALSE NA ENSE00001119132_023 ENSE00001119132 023 11 61675005 61675174 - 32 96 42 A G 61675098 1460 77 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACGGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907625 61907626 61907626 exon 35 0.364583333333333 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCCGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 161 21 1 1 1 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0170096174207377 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0382228632480925 NA FALSE NA 1 9.309 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CAG A,G 8.236e-06 11:61907626 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 missense_variant 6.16728 0.97396 0.96602 0.718356 0.998912920384612 0 0.000894540821499919 FALSE 4.06359e-06 ENSE00001119132_024 ENSE00001119132 024 11 61675005 61675174 - 32 96 42 A G 61675108 1461 67 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACGTTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907635 61907636 61907636 exon 25 0.260416666666667 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAACGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 305 460 1 0.992189092261888 0.996094546130944 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0170096174207377 0.0516252013373356 0.96518611064265 0.961777136751907 NA 0.0343174093790367 NA FALSE NA 1 9.335 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CAT A,G 8.236e-06 11:61907636 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 missense_variant 6.111102 0.97396 0.96949 0.700653 0.997552039680334 0 0.000894540821499919 FALSE 4.06408e-06 ENSE00001119132_025 ENSE00001119132 025 11 61675005 61675174 - 32 96 42 C T 61675114 1462 61 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTTGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907641 61907642 61907642 exon 19 0.197916666666667 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACAAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 20 12 0.999574609254666 0.996010487068667 0.997792548161666 442 188 1 0.996270995016004 0.998135497508002 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 0.0338475747531712 0.0313653002848611 0.0170096174207377 0.0557071040914509 0.96518611064265 0.961777136751907 0.0326064375190162 0.0363583607560943 0.00375192323707813 FALSE FALSE 1 3.951 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA TCG C,T 8.236e-06 11:61907642 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 missense_variant 4.321205 0.94809 0.79556 0.700653 0.997220640652164 0 0.000894540821499919 FALSE 4.06557e-06 ENSE00001119132_026 ENSE00001119132 026 11 61675005 61675174 - 32 96 42 G A 61675115 1463 60 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCATCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907642 61907643 61907643 exon 18 0.1875 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGATGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 535 441 0.745952085622803 0.893103700708991 0.819527893165897 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA -0.237038296956459 -0.0474601902155612 0.96518611064265 0.961777136751907 NA -0.14224924358601 NA FALSE NA 0.144 -0.423 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CGT G,A 8.236e-06 11:61907643 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 synonymous_variant 1.143806 0.73883 0.18351 0.700653 0.876384278871901 0 0.000894540821499919 FALSE 1.21965e-05 ENSE00001119132_027 ENSE00001119132 027 11 61675005 61675174 - 32 96 42 C A 61675117 1464 58 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTACTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907644 61907645 61907645 exon 16 0.166666666666667 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGTACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 222 290 0.968418114221067 0.997872281888676 0.983145198054872 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA -0.0145722683581954 0.0573083909641235 0.96518611064265 0.961777136751907 NA 0.0213680613029641 NA FALSE NA 1 7.814 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA TCC C,A 1.647e-05 11:61907645 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 missense_variant 7.39344 0.97932 0.96399 0.700653 0.995156909618191 0 0.000894540821499919 FALSE 3.25272e-05 ENSE00001119132_028 ENSE00001119132 028 11 61675005 61675174 - 32 96 42 T C 61675121 1465 54 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTCAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907648 61907649 61907649 exon 12 0.125 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTGAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant 106 35 0.890567767279741 0.991888640285862 0.941228203782801 NA NA NA NA NA 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 -0.0751592672217539 0.027243453502056 NA NA 0.96518611064265 0.961777136751907 -0.0239579068598489 NA NA NA FALSE 0.723 -0.098 rs146282549 upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs146282549 1 C:0.0066 C:0 C:0 NA C:0.0327 C:0 C:0 TTA T,C 0.003047 11:61907649 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 synonymous_variant 0.591145 0.90567 0.32633 0.700653 0.699971567854675 0 0.000894540821499919 FALSE 0.00324955 ENSE00001119132_029 ENSE00001119132 029 11 61675005 61675174 - 32 96 42 T G 61675126 1466 49 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTGCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907653 61907654 61907654 exon 7 0.0729166666666667 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGCAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 307 25 0.991562975885544 0.923831679462836 0.95769732767419 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.00857259330628135 -0.0167322114617163 0.96518611064265 0.961777136751907 NA -0.00407980907771749 NA FALSE NA 1 4.178 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA TTC T,G 8.236e-06 11:61907654 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 missense_variant 2.763915 0.95306 0.88682 0.700653 0.970714808634612 0 0.000894540821499919 FALSE 4.06914e-06 ENSE00001119132_030 ENSE00001119132 030 11 61675005 61675174 - 32 96 42 G A 61675136 1467 39 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGAAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907663 61907664 61907664 upstr_intron -4 -0.0714285714285714 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTTCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 571 427 1 1 1 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0170096174207377 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0382228632480925 NA FALSE NA 0.964 1.18 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA GGA G,A 8.237e-06 11:61907664 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 splice_region_variant 0.292729 0.45209 0.17897 0.053691 0.823060485133659 0.152245 0.000894540821499919 FALSE 8.15508e-06 ENSE00001119132_031 ENSE00001119132 031 11 61675005 61675174 - 32 96 42 G C 61675144 1468 31 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAACAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907671 61907672 61907672 upstr_intron -12 -0.261904761904762 GGGGATGCTGAGGTGCTCAAGTGCCTGCCTGTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 88 228 0.994739497884545 1 0.997369748942272 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0117491153052824 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0355926121903649 NA FALSE NA 0.033 1.828 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA AGA G,C 8.237e-06 11:61907672 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant -0.348456 0.26261 0.07471 0.053691 0.392417558260517 0.0741145 0.000894540821499919 FALSE 8.16787e-06 ENSE00001119132_032 ENSE00001119132 032 11 61675005 61675174 - 32 96 42 C G 61675152 1469 23 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGGACTTGAGCACCTCAGCATCCCC 61907532 61907702 61907679 61907680 61907680 upstr_intron -20 -0.452380952380952 GGGGATGCTGAGGTGCTCAAGTCCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 62 34 0.999334338244473 1 0.999667169122236 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0163439556652104 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0378900323703288 NA FALSE NA 0 0.118 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs538979858 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GCA C,G 1.647e-05 11:61907680 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant -0.08856 0.19496 0.01157 0.053691 0.474341841611747 0.0695428 0.000894540821499919 FALSE 1.64451e-05 ENSE00001119132_033 ENSE00001119132 033 11 61675005 61675174 - 32 96 42 T C 61675155 1470 20 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACCTGAGCACCTCAGCATCCCC 61907532 61907702 61907682 61907683 61907683 upstr_intron -23 -0.523809523809524 GGGGATGCTGAGGTGCTCAGGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 83 426 0.985795210746441 1 0.99289760537322 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.00280482816717864 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.031120468621313 NA FALSE NA 0 0.429 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA CTT T,C 1.647e-05 11:61907683 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant -0.454345 0.17153 0.03668 0.053691 0.276287696260651 0.0695428 0.000894540821499919 FALSE 8.22876e-06 ENSE00001119132_034 ENSE00001119132 034 11 61675005 61675174 - 32 96 42 G A 61675159 1471 16 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAACACCTCAGCATCCCC 61907532 61907702 61907686 61907687 61907687 upstr_intron -27 -0.619047619047619 GGGGATGCTGAGGTGTTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 965 415 0.998689803071805 1 0.999344901535903 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA 0.0156994204925431 0.0594361090754473 0.96518611064265 0.961777136751907 NA 0.0375677647839952 NA FALSE NA 0.001 -1.134 rs114235650 upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 rs114235650 1 A:0.0014 A:0.0045 A:0.0014 NA A:0 A:0 A:0 A:0.0023 A:0 AGC G,A 0.000346 11:61907687 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant -0.033018 0.22006 0.1067 0.053691 0.549059164522586 0.0695428 0.000894540821499919 FALSE 0.000248703 ENSE00001119132_035 ENSE00001119132 035 11 61675005 61675174 - 32 96 42 C T 61675162 1472 13 CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTACCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCCTGGAGGAAAAGAGGCAGGCACTTGAGCATCTCAGCATCCCC 61907532 61907702 61907689 61907690 61907690 upstr_intron -30 -0.69047619047619 GGGGATGCTGAGATGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG mutant NA NA NA NA NA 115 112 0.975103883383045 0.996172499647159 0.985638191515102 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 NA NA -0.00788649919621776 0.0556086087226061 0.96518611064265 0.961777136751907 NA 0.0238610547631942 NA FALSE NA 0.009 -3.119 . upstream_gene_variant MODIFIER RAB3IL1 HGNC 9780 ENST00000530888 1 NA ACC C,T 8.238e-06 11:61907690 RAB3IL1 HGNC Symbol protein_coding 22968 ENSG00000167994 ENSE00001119132 intron_variant 0.386741 0.22775 0.02797 0.053691 0.538728809629367 0.0535528 0.000894540821499919 FALSE 4.16126e-06 ENSE00001119132_BRK ENSE00001119132 BRK 11 61675005 61675174 - 32 96 42 A,G; T,T NA NA NA CCCCAAGTTGTTCCCGCGCCCAGCCGGTGTGGCTCAAACAGGCTGGCCGTCAGCTCTTCCAGCTCCTGTTCTAGCTGCTCCCGCACCTTGGACAGCCGCTCACATTCCTCGTCCTTTAGCTTCAGCTCAAGGAGGAAAAGAGGCAGGCACTTGAGCACCTCAGCATCCCC 61907532 61907702 NA NA NA NA NA NA GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCTTGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGCCACACCGGCTGGGCGCGGGAACAACTTGGGG GGGGATGCTGAGGTGCTCAAGTGCCTGCCTCTTTTCCTCCAGGAGCTGAAGCTAAAGGACGAGGAATGTGAGCGGCTGTCCAAGGTGCGGGAGCAGCTAGAACAGGAGCTGGAAGAGCTGACGGCCAGCCTGTTTGAGGTACACCGGCTGGGCGCGGGAACAACTTGGGG control 318 175 0 0 0 288 114 0.0444266925686116 0 0.0222133462843058 0.965727034501495 0.964645186783806 0.982990382579262 0.940563890924553 -0.965727034501495 -0.964645186783806 -0.938563690010651 -0.940563890924553 0.96518611064265 0.961777136751907 -0.96518611064265 -0.939563790467602 0.0256223201750485 TRUE TRUE NA NA NA NA NA RAB3IL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB3IL1 NA NA NA ENSG00000167994 ENSE00001119132 NA NA NA NA NA NA NA 0.000894540821499919 FALSE NA ENSE00001119236_000 ENSE00001119236 000 11 62532589 62532758 + 65 51 54 NA NA NA NA NA AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 NA NA NA NA NA NA AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC natural 82 18 0.954661084631198 1 0.977330542315599 1682 1797 0.998992513738386 0.999894040179763 0.999443276959075 0.954661084631198 1 0.998992513738386 0.999894040179763 0 0 0 0 0.977330542315599 0.999443276959075 0 0 0 FALSE FALSE NA NA NA NA NA POLR2G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR2G NA NA NA ENSG00000168002 ENSE00003502799 NA NA NA NA NA NA NA 0.00646539515591118 FALSE NA ENSE00001119236_001 ENSE00001119236 001 11 62532589 62532758 + 65 51 54 C T 62532608 1473 20 AAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765135 62765136 62765136 upstr_intron -46 -0.692307692307692 AAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 34 366 1 0.996057541590848 0.998028770795424 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 -0.00383649858891522 0.977330542315599 0.999443276959075 NA -0.00141450616365074 NA FALSE NA 0.04 -0.924 . intron_variant&NMD_transcript_variant MODIFIER POLR2G HGNC 9194 ENST00000531996 3/5 rs372332489 1 NA T:0.0009 T:0 GCG C,T 9.06e-05 11:62765136 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 intron_variant -0.167431 0.05314 0.00071 0.295142 0.499817817337268 0.0530683 0.00646539515591118 FALSE 9.78003e-05 ENSE00001119236_002 ENSE00001119236 002 11 62532589 62532758 + 65 51 54 G A 62532609 1474 21 AAAGTGCTGGGATTACAGGCATGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765136 62765137 62765137 upstr_intron -45 -0.676923076923077 AAAGTGCTGGGATTACAGGCATGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 79 48 0.986204373694402 1 0.993102186847201 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA -0.0127881400439839 0.000105959820236756 0.977330542315599 0.999443276959075 NA -0.00634109011187356 NA FALSE NA 0.03 -0.409 . intron_variant&NMD_transcript_variant MODIFIER POLR2G HGNC 9194 ENST00000531996 3/5 rs552360791 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGT G,A 4.942e-05 11:62765137 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 intron_variant -0.482181 0.04741 0.00103 0.295142 0.614401792027527 0.0538749 0.00646539515591118 FALSE 3.2572e-05 ENSE00001119236_004 ENSE00001119236 004 11 62532589 62532758 + 65 51 54 A C 62532616 1476 28 AAAGTGCTGGGATTACAGGCGTGAGCCCCCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765143 62765144 62765144 upstr_intron -38 -0.569230769230769 AAAGTGCTGGGATTACAGGCGTGAGCCCCCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 49 12 1 1 1 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 0.000105959820236756 0.977330542315599 0.999443276959075 NA 0.000556723040925244 NA FALSE NA 0.01 0.499 NA NA NA POLR2G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:62765144 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 intron_variant 0.122314 0.1088 0.0182 0.295142 0.67426397841359 0.0530683 0.00646539515591118 FALSE 4.47067e-05 ENSE00001119236_009 ENSE00001119236 009 11 62532589 62532758 + 65 51 54 G A 62532626 1481 38 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGACCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765153 62765154 62765154 upstr_intron -28 -0.415384615384615 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGACCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 27 649 1 1 1 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 0.000105959820236756 0.977330542315599 0.999443276959075 NA 0.000556723040925244 NA FALSE NA 0 -0.839 . intron_variant&NMD_transcript_variant MODIFIER POLR2G HGNC 9194 ENST00000531996 3/5 rs373334263 1 NA A:0.0002 A:0.0001 GGC G,A 8.236e-06 11:62765154 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 intron_variant 0.010245 0.03811 5e-04 0.295142 0.871139011339541 0.0530683 0.00646539515591118 FALSE 8.12381e-06 ENSE00001119236_010 ENSE00001119236 010 11 62532589 62532758 + 65 51 54 C T 62532628 1482 40 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCTGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765155 62765156 62765156 upstr_intron -26 -0.384615384615385 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCTGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 38 1178 1 1 1 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 0.000105959820236756 0.977330542315599 0.999443276959075 NA 0.000556723040925244 NA FALSE NA 0 0.728 . intron_variant&NMD_transcript_variant MODIFIER POLR2G HGNC 9194 ENST00000531996 3/5 rs372433004 1 NA T:0.0002 T:0 CCG C,T 8.236e-06 11:62765156 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 intron_variant 0.404483 0.09644 0.01501 0.295142 0.905207208092066 0.0530683 0.00646539515591118 FALSE 1.21848e-05 ENSE00001119236_012 ENSE00001119236 012 11 62532589 62532758 + 65 51 54 T G 62532645 1484 57 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTGTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765172 62765173 62765173 upstr_intron -9 -0.123076923076923 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTGTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 17 502 1 1 1 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 0.000105959820236756 0.977330542315599 0.999443276959075 NA 0.000556723040925244 NA FALSE NA 0.11 0.768 . intron_variant&NMD_transcript_variant MODIFIER POLR2G HGNC 9194 ENST00000531996 3/5 rs561398574 1 NA TTT T,G 8.236e-06 11:62765173 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 intron_variant 0.753409 0.38917 0.38612 0.295142 0.672444223948492 0.143442 0.00646539515591118 FALSE 2.43643e-05 ENSE00001119236_013 ENSE00001119236 013 11 62532589 62532758 + 65 51 54 T C 62532649 1485 61 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTCCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765176 62765177 62765177 upstr_intron -5 -0.0615384615384615 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTCCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 140 71 0.98955690002983 0.972509134072407 0.981033017051119 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA -0.00943561370855583 -0.0273849061073563 0.977330542315599 0.999443276959075 NA -0.0184102599079561 NA FALSE NA 0 0.114 . splice_region_variant&intron_variant&NMD_transcript_variant LOW POLR2G HGNC 9194 ENST00000531996 3/5 1 NA TTC T,C 8.236e-06 11:62765177 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 splice_region_variant 1.087478 0.23891 0.06956 0.295142 0.6503954870249 0.340145 0.00646539515591118 FALSE 1.21821e-05 ENSE00001119236_014 ENSE00001119236 014 11 62532589 62532758 + 65 51 54 C T 62532650 1486 62 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTTTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765177 62765178 62765178 upstr_intron -4 -0.0461538461538462 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTTTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 85 91 1 1 1 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 0.000105959820236756 0.977330542315599 0.999443276959075 NA 0.000556723040925244 NA FALSE NA 0 -1.216 . splice_region_variant&intron_variant&NMD_transcript_variant LOW POLR2G HGNC 9194 ENST00000531996 3/5 1 NA TCT C,T 2.471e-05 11:62765178 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 splice_region_variant 1.692964 0.24058 0.08464 0.295142 0.722315148326837 0.256208 0.00646539515591118 FALSE 1.62517e-05 ENSE00001119236_017 ENSE00001119236 017 11 62532589 62532758 + 65 51 54 T C 62532704 1489 116 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACACGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765231 62765232 62765232 exon -1 1 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACACGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 90 31 1 0.997506302505041 0.998753151252521 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 -0.00238773767472189 0.977330542315599 0.999443276959075 NA -0.000690125706554079 NA FALSE NA 0.813 -0.224 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW POLR2G HGNC 9194 ENST00000531996 4/6 1 NA ATG T,C 8.236e-06 11:62765232 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 splice_region_variant 0.780807 0.96718 0.73412 0.706548 0.807344709800291 0 0.00646539515591118 FALSE 4.06062e-06 ENSE00001119236_018 ENSE00001119236 018 11 62532589 62532758 + 65 51 54 G A 62532705 1490 117 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATATAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765232 62765233 62765233 downstr_intron 1 1.0188679245283 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATATAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant 34 87 0 0 0 NA NA NA NA NA 0.954661084631198 1 0.998992513738386 0.999894040179763 -0.954661084631198 -1 NA NA 0.977330542315599 0.999443276959075 -0.977330542315599 NA NA NA TRUE 1 8.441 rs141704472 splice_donor_variant&NMD_transcript_variant HIGH POLR2G HGNC 9194 ENST00000531996 4/5 rs141704472 1 NA A:0 A:0.0001 TGT G,A 8.236e-06 11:62765233 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 splice_donor_variant 6.168013 0.99368 0.99615 0.295142 0.995045792652595 0.989826 0.00646539515591118 FALSE NA ENSE00001119236_020 ENSE00001119236 020 11 62532589 62532758 + 65 51 54 G C 62532724 1492 136 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGCTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 62765251 62765252 62765252 downstr_intron 20 1.37735849056604 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGCTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 178 411 1 1 1 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 0.000105959820236756 0.977330542315599 0.999443276959075 NA 0.000556723040925244 NA FALSE NA 0 0.086 NA NA NA POLR2G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:62765252 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 intron_variant -0.364832 0.26757 0.12646 0.099367 0.506160279367037 0.0510463 0.00646539515591118 FALSE 4.06072e-06 ENSE00001119236_022 ENSE00001119236 022 11 62532589 62532758 + 65 51 54 C G 62532740 1494 152 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGAGAGATACTCATTCATCACC 62765116 62765286 62765267 62765268 62765268 downstr_intron 36 1.67924528301887 AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGAGAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC mutant NA NA NA NA NA 29 33 1 0.964894551036758 0.982447275518379 0.954661084631198 1 0.998992513738386 0.999894040179763 NA NA 0.00100748626161373 -0.0349994891430049 0.977330542315599 0.999443276959075 NA -0.0169960014406956 NA FALSE NA 0.001 -0.125 . intron_variant&NMD_transcript_variant MODIFIER POLR2G HGNC 9194 ENST00000531996 4/5 1 NA ACA C,G 8.236e-06 11:62765268 POLR2G HGNC Symbol protein_coding 5166 ENSG00000168002 ENSE00003502799 intron_variant 0.111285 0.11045 0.00497 0.099367 0.635975660568443 0.0856349 0.00646539515591118 FALSE 4.06088e-06 ENSE00001119236_BRK ENSE00001119236 BRK 11 62532589 62532758 + 65 51 54 A,G; T,T NA NA NA AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTTTGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATCCAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC 62765116 62765286 NA NA NA NA NA NA AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTTTGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATCCAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCACGGCCGTAAGATCACTCATTTTTTTTCTAGGTTGGACTCTTCACAGAAATTGGGCCCATGTCTTGCTTCATCTCTCGACATGTAAGTCTGGGCACACTGGGTGGGGCTGAGGAAGACAGATACTCATTCATCACC control 242 71 0 0 0 NA NA NA NA NA 0.954661084631198 1 0.998992513738386 0.999894040179763 -0.954661084631198 -1 NA NA 0.977330542315599 0.999443276959075 -0.977330542315599 NA NA NA TRUE NA NA NA NA NA POLR2G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR2G NA NA NA ENSG00000168002 ENSE00003502799 NA NA NA NA NA NA NA 0.00646539515591118 FALSE NA ENSE00001119243_000 ENSE00001119243 000 11 62533071 62533240 + 54 72 44 NA NA NA NA NA TGTAACTTCTCATAAACTGAGGAGCATCTGTACACTGTTCCCTCCTCTCCTCAGGATATTGTGATTCAGCAGGACGATGAGATCCGCTTAAAGATTGTGGGGACCCGTGTGGACAAGAATGACATTGTGAGTCTTTTCCCCACCTCTCTACCTATACCAGGTTGAGCTGA 62765598 62765768 NA NA NA NA NA NA TGTAACTTCTCATAAACTGAGGAGCATCTGTACACTGTTCCCTCCTCTCCTCAGGATATTGTGATTCAGCAGGACGATGAGATCCGCTTAAAGATTGTGGGGACCCGTGTGGACAAGAATGACATTGTGAGTCTTTTCCCCACCTCTCTACCTATACCAGGTTGAGCTGA TGTAACTTCTCATAAACTGAGGAGCATCTGTACACTGTTCCCTCCTCTCCTCAGGATATTGTGATTCAGCAGGACGATGAGATCCGCTTAAAGATTGTGGGGACCCGTGTGGACAAGAATGACATTGTGAGTCTTTTCCCCACCTCTCTACCTATACCAGGTTGAGCTGA natural 12 72 0.85 0.85 0.85 261 264 0.800998957341508 0.818684597869183 0.809841777605346 0.85 0.85 0.800998957341508 0.818684597869183 0 0 0 0 0.85 0.809841777605346 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003621890 NA NA NA NA NA NA NA NA NA NA ENSE00001119248_000 ENSE00001119248 000 11 62543809 62543978 + 47 87 36 NA NA NA NA NA CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 NA NA NA NA NA NA CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC natural NA NA NA NA NA 247 151 0.995239368316768 0.99872979940011 0.996984583858439 NA NA 0.995239368316768 0.99872979940011 NA NA 0 0 NA 0.996984583858439 NA 0 NA FALSE NA NA NA NA NA NA TAF6L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAF6L NA NA NA ENSG00000162227 ENSE00003474933 NA NA NA NA NA NA NA 0.819819294441314 FALSE NA ENSE00001119653_000 ENSE00001119653 000 11 69949131 69949300 + 41 99 30 NA NA NA NA NA TCATTTCGGAGCAGGACCATCAACACCAACCTTCTTCGTCGGCATCTTCAGTTTCAGAAACTCGGCCTCTCTGCACAGCACGTTCCAGGGGGCATGGATTTTCACAAACCCGACTCCGTGGATTTTAGTCTGGAGAGAGAAGGAAAGTTCTGGGTTGAGGGGGGGCGGTG 70103024 70103194 NA NA NA NA NA NA CACCGCCCCCCCTCAACCCAGAACTTTCCTTCTCTCTCCAGACTAAAATCCACGGAGTCGGGTTTGTGAAAATCCATGCCCCCTGGAACGTGCTGTGCAGAGAGGCCGAGTTTCTGAAACTGAAGATGCCGACGAAGAAGGTTGGTGTTGATGGTCCTGCTCCGAAATGA CACCGCCCCCCCTCAACCCAGAACTTTCCTTCTCTCTCCAGACTAAAATCCACGGAGTCGGGTTTGTGAAAATCCATGCCCCCTGGAACGTGCTGTGCAGAGAGGCCGAGTTTCTGAAACTGAAGATGCCGACGAAGAAGGTTGGTGTTGATGGTCCTGCTCCGAAATGA natural 57 22 0.937020135518899 0.95229527779366 0.944657706656279 367 438 0.90456510895745 0.995418431143053 0.949991770050252 0.937020135518899 0.95229527779366 0.90456510895745 0.995418431143053 0 0 0 0 0.944657706656279 0.949991770050252 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00002449881 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001120379_000 ENSE00001120379 000 15 50540412 50540581 - 30 99 41 NA NA NA NA NA CCTTGTCTCTAACCTTGGGCACTGTGTTCCTTTGTTTCTAGCACTGGCAGATCCCCCTGAGCCGACGGTTTCGCTCTGTTAAACTCTGGTTCGTGATTCGGTCCTTCGGGGTGAAGAATCTTCAAGCACATGTCAGACATGTATGTAGCATGCTGCTGTGGGGGCTGAGC 50248214 50248384 NA NA NA NA NA NA CCTTGTCTCTAACCTTGGGCACTGTGTTCCTTTGTTTCTAGCACTGGCAGATCCCCCTGAGCCGACGGTTTCGCTCTGTTAAACTCTGGTTCGTGATTCGGTCCTTCGGGGTGAAGAATCTTCAAGCACATGTCAGACATGTATGTAGCATGCTGCTGTGGGGGCTGAGC CCTTGTCTCTAACCTTGGGCACTGTGTTCCTTTGTTTCTAGCACTGGCAGATCCCCCTGAGCCGACGGTTTCGCTCTGTTAAACTCTGGTTCGTGATTCGGTCCTTCGGGGTGAAGAATCTTCAAGCACATGTCAGACATGTATGTAGCATGCTGCTGTGGGGGCTGAGC natural NA NA NA NA NA 851 901 0.674609230733733 0.662645872420719 0.668627551577226 NA NA 0.674609230733733 0.662645872420719 NA NA 0 0 NA 0.668627551577226 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003602476 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001121647_000 ENSE00001121647 000 2 74319984 74320153 + 45 90 35 NA NA NA NA NA CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC 74092856 74093026 NA NA NA NA NA NA CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC natural 41 38 0.996328875464641 0.992500945258061 0.994414910361351 147 717 0.991043319020633 0.997191307161992 0.994117313091313 0.996328875464641 0.992500945258061 0.991043319020633 0.997191307161992 0 0 0 0 0.994414910361351 0.994117313091313 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TET3 NA NA NA ENSG00000187605 ENSE00001121647 NA NA NA NA NA NA NA 0.999942650512804 TRUE NA ENSE00001121647_003 ENSE00001121647 003 2 74319984 74320153 + 45 90 35 C T 74320073 1765 90 CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTTGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC 74092856 74093026 74092945 74092946 74092946 exon 45 0.5 CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTTGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC mutant NA NA NA NA NA 216 480 1 1 1 0.996328875464641 0.992500945258061 0.991043319020633 0.997191307161992 NA NA 0.00895668097936708 0.00280869283800766 0.994414910361351 0.994117313091313 NA 0.00588268690868737 NA FALSE NA 0.538 -0.071 NA NA NA TET3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:74092946 TET3 HGNC Symbol protein_coding 121772 ENSG00000187605 ENSE00001121647 synonymous_variant 2.299928 0.88433 0.56199 0.562547 0.693464775870971 0 0.999942650512804 TRUE 0.000143012 ENSE00001121647_006 ENSE00001121647 006 2 74319984 74320153 + 45 90 35 G A 74320090 1768 107 CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCAACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC 74092856 74093026 74092962 74092963 74092963 exon -29 0.688888888888889 CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCAACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC mutant NA NA NA NA NA 89 14 1 1 1 0.996328875464641 0.992500945258061 0.991043319020633 0.997191307161992 NA NA 0.00895668097936708 0.00280869283800766 0.994414910361351 0.994117313091313 NA 0.00588268690868737 NA FALSE NA 1 1.161 . missense_variant MODERATE TET3 HGNC 28313 ENST00000409262 6/9 rs538401708 1 benign(0.009) A:0.0004 A:0.0008 A:0.0014 NA A:0 A:0 A:0 CGA G 7.507e-05 2:74092963 TET3 HGNC Symbol protein_coding 121772 ENSG00000187605 ENSE00001121647 missense_variant 1.829117 0.88899 0.74491 0.562547 0.822519883773049 0 0.999942650512804 TRUE NA ENSE00001121647_007 ENSE00001121647 007 2 74319984 74320153 + 45 90 35 C A 74320097 1769 114 CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCACCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC 74092856 74093026 74092969 74092970 74092970 exon -22 0.766666666666667 CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCACCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC mutant NA NA NA NA NA 1683 770 0.970092980624092 1 0.985046490312046 0.996328875464641 0.992500945258061 0.991043319020633 0.997191307161992 NA NA -0.0209503383965409 0.00280869283800766 0.994414910361351 0.994117313091313 NA -0.00907082277926663 NA FALSE NA 0 -2.886 . synonymous_variant LOW TET3 HGNC 28313 ENST00000409262 6/9 1 NA CCC C 8.364e-06 2:74092970 TET3 HGNC Symbol protein_coding 121772 ENSG00000187605 ENSE00001121647 synonymous_variant 2.230295 0.83194 0.19108 0.706548 0.790202710653803 0 0.999942650512804 TRUE NA ENSE00001121647_008 ENSE00001121647 008 2 74319984 74320153 + 45 90 35 C T 74320106 1770 123 CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCTTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC 74092856 74093026 74092978 74092979 74092979 exon -13 0.866666666666667 CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCTTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC mutant NA NA NA NA NA 424 122 0.867635388541552 1 0.933817694270776 0.996328875464641 0.992500945258061 0.991043319020633 0.997191307161992 NA NA -0.123407930479081 0.00280869283800766 0.994414910361351 0.994117313091313 NA -0.0602996188205367 NA FALSE NA 0.996 0.95 rs146350073 synonymous_variant LOW TET3 HGNC 28313 ENST00000409262 6/9 rs146350073 1 T:0.0006 T:0 T:0 NA T:0 T:0.003 T:0 T:0.0003 T:0.001 CCT C 0.0003953 2:74092979 TET3 HGNC Symbol protein_coding 121772 ENSG00000187605 ENSE00001121647 synonymous_variant 1.681723 0.92388 0.80446 0.706548 0.794807238433815 0 0.999942650512804 TRUE 0.000604219 ENSE00001121647_BRK ENSE00001121647 BRK 2 74319984 74320153 + 45 90 35 A,G; T,T NA NA NA CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCTTGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGCCAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC 74092856 74093026 NA NA NA NA NA NA CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCTTGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGCCAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC CCAGGCGGGGCTGCTCTGGATGTGTGACTGCCCCTCTCTCTGCAGGAAGAAGTGCTCCGGAAGAGTTTCCAGGACCTGGCCACCGAAGTCGCTCCCCTGTACAAGCGACTGGCCCCTCAGGCCTATCAGAACCAGGTAACGGGCCCTGGGCCTTTTGCTGCCCACATGTC control NA NA NA NA NA 407 1624 0.00596605065054483 0.0118736510435477 0.00891985084704628 0.996328875464641 0.992500945258061 0.991043319020633 0.997191307161992 NA NA -0.985077268370088 -0.985317656118445 0.994414910361351 0.994117313091313 NA -0.985197462244266 NA TRUE NA NA NA NA NA NA TET3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TET3 NA NA NA ENSG00000187605 ENSE00001121647 NA NA NA NA NA NA NA 0.999942650512804 TRUE NA ENSE00001121929_000 ENSE00001121929 000 3 4821192 4821361 + 42 96 32 NA NA NA NA NA GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 NA NA NA NA NA NA GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC natural 109 87 0.997674267006133 0.993515217751607 0.99559474237887 3934 2952 0.980670726489824 0.847174607836713 0.913922667163268 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 0 0 0 0 0.99559474237887 0.913922667163268 0 0 0 FALSE FALSE NA NA NA NA NA ITPR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR1 NA NA NA ENSG00000150995 ENSE00001121929 NA NA NA NA NA NA NA 0.999999999994095 TRUE NA ENSE00001121929_001 ENSE00001121929 001 3 4821192 4821361 + 42 96 32 A G 4821203 44 12 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGCAGAGGGGCTGC 4779507 4779677 4779518 4779519 4779519 upstr_intron -31 -0.714285714285714 GCAGCCCCTCTGCATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 439 507 1 1 1 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 0.152825392163287 0.99559474237887 0.913922667163268 NA 0.0860773328367319 NA FALSE NA 0 -1.233 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 45/58 rs369668482 1 G:0.0036 G:0.0129 G:0.0014 NA G:0 G:0 G:0 G:0.005 G:0 TAC A,G 0.0005627 3:4779519 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 intron_variant 1.350765 0.1967 0.03749 0 0.701462724934932 0.0824037 0.999999999994095 TRUE 0.000463449 ENSE00001121929_002 ENSE00001121929 002 3 4821192 4821361 + 42 96 32 A C 4821205 45 14 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAAGGTAGAGGGGCTGC 4779507 4779677 4779520 4779521 4779521 upstr_intron -29 -0.666666666666667 GCAGCCCCTCTACCTTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 73 96 0.96459954672399 0.956626252145057 0.960612899434524 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA -0.0160711797658338 0.109451644308345 0.99559474237887 0.913922667163268 NA 0.0466902322712555 NA FALSE NA 0 -0.317 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 45/58 rs371777189 1 NA G:0.0003 G:0 CAT A,C 8.275e-06 3:4779521 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 intron_variant 1.150024 0.16431 0.06227 0 0.748056251606858 0.0455939 0.999999999994095 TRUE 8.13101e-06 ENSE00001121929_003 ENSE00001121929 003 3 4821192 4821361 + 42 96 32 C T 4821212 46 21 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAAAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779527 4779528 4779528 upstr_intron -22 -0.5 GCAGCCCCTCTACATTTCCTTTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 585 21 1 1 1 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 0.152825392163287 0.99559474237887 0.913922667163268 NA 0.0860773328367319 NA FALSE NA 0 -0.34 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 45/58 rs369988167 1 NA T:0 T:0.0004 TCT C,T 0.0001076 3:4779528 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 intron_variant 2.184686 0.22676 0.04004 0.035109 0.932753381024856 0.129676 0.999999999994095 TRUE 7.72295e-05 ENSE00001121929_004 ENSE00001121929 004 3 4821192 4821361 + 42 96 32 C G 4821216 47 25 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAACGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779531 4779532 4779532 upstr_intron -18 -0.404761904761905 GCAGCCCCTCTACATTTCCTCTCCGTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 216 529 1 0.999422387574373 0.999711193787186 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 0.15224777973766 0.99559474237887 0.913922667163268 NA 0.0857885266239182 NA FALSE NA 0 -0.494 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 45/58 rs372666620 1 NA G:0 G:0.0001 CCT C,G 8.275e-06 3:4779532 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 intron_variant 1.898126 0.25335 0.04494 0 0.796240016377849 0.187002 0.999999999994095 TRUE 4.06421e-06 ENSE00001121929_005 ENSE00001121929 005 3 4821192 4821361 + 42 96 32 T C 4821239 48 48 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCGTTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779554 4779555 4779555 exon 6 0.0625 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAACGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 58 389 0.972197654679102 0.988876903787406 0.980537279233254 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA -0.00847307181072132 0.141702295950693 0.99559474237887 0.913922667163268 NA 0.066614612069986 NA FALSE NA 0.003 -1.331 . synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 46/59 1 NA ATG T,C 1.655e-05 3:4779555 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 synonymous_variant 0.327435 0.90627 0.18181 0.722319 0.654658164612614 0 0.999999999994095 TRUE 8.12711e-06 ENSE00001121929_006 ENSE00001121929 006 3 4821192 4821361 + 42 96 32 G A 4821245 49 54 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTTGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779560 4779561 4779561 exon 12 0.125 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCAAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 1275 3448 0.998170189402779 0.976548174846355 0.987359182124567 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0174994629129555 0.129373567009642 0.99559474237887 0.913922667163268 NA 0.0734365149612988 NA FALSE NA 0 -3.576 . synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 46/59 COSM1045733&COSM1423668&COSM1423669 1 NA CGA G,A 1.655e-05 3:4779561 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 synonymous_variant 1.464722 0.22605 0.06076 0.722319 0.47812018534376 0 0.999999999994095 TRUE 8.12717e-06 ENSE00001121929_007 ENSE00001121929 007 3 4821192 4821361 + 42 96 32 C T 4821278 50 87 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCATGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779593 4779594 4779594 exon 45 0.46875 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCATGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 189 146 0.996687351311367 0.985532430893479 0.991109891102423 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0160166248215432 0.138357823056766 0.99559474237887 0.913922667163268 NA 0.0771872239391546 NA FALSE NA 0.57 -0.162 . synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 46/59 COSM3824051&COSM3824049&COSM3824050 1 NA ACG C,T 8.272e-06 3:4779594 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 synonymous_variant 2.032976 0.90085 0.35332 0.722319 0.583986007410422 0 0.999999999994095 TRUE 1.21924e-05 ENSE00001121929_008 ENSE00001121929 008 3 4821192 4821361 + 42 96 32 A G 4821289 51 98 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGCTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779604 4779605 4779605 exon -41 0.583333333333333 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAGCGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 697 523 0.946237076786993 0.992980365632384 0.969608721209688 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA -0.0344336497028309 0.145805757795671 0.99559474237887 0.913922667163268 NA 0.0556860540464202 NA FALSE NA 1 7.346 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 46/59 1 benign(0.297) NA AAC A,G 8.271e-06 3:4779605 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 missense_variant 3.576405 0.9572 0.93279 0.722319 0.998830068280739 0 0.999999999994095 TRUE NA ENSE00001121929_009 ENSE00001121929 009 3 4821192 4821361 + 42 96 32 C T 4821290 52 99 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCATTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779605 4779606 4779606 exon -40 0.59375 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAATGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 761 511 0.996965565277038 1 0.998482782638519 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.016294838787214 0.152825392163287 0.99559474237887 0.913922667163268 NA 0.0845601154752508 NA FALSE NA 0.017 -0.96 rs182891619 synonymous_variant LOW ITPR1 HGNC 6180 ENST00000423119 46/59 rs182891619&COSM480199&COSM1137046&COSM1137047 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0001 ACG C,T 0.0001075 3:4779606 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 synonymous_variant 1.934643 0.84343 0.09835 0.722319 0.751049951319649 0 0.999999999994095 TRUE 0.000158482 ENSE00001121929_011 ENSE00001121929 011 3 4821192 4821361 + 42 96 32 C A 4821303 54 112 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAATTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779618 4779619 4779619 exon -27 0.729166666666667 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATAATTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 162 495 1 1 1 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 0.152825392163287 0.99559474237887 0.913922667163268 NA 0.0860773328367319 NA FALSE NA 0.995 3.247 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 46/59 1 probably_damaging(0.993) NA ACT C,A 8.271e-06 3:4779619 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 missense_variant 5.817385 0.82484 0.85648 0.722319 0.995093516346259 0 0.999999999994095 TRUE 4.06279e-06 ENSE00001121929_013 ENSE00001121929 013 3 4821192 4821361 + 42 96 32 A G 4821312 56 121 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGGCCTCACGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779627 4779628 4779628 exon -18 0.822916666666667 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACGTGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 107 1657 1 0.81846487635972 0.90923243817986 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 -0.0287097314769929 0.99559474237887 0.913922667163268 NA -0.00469022898340832 NA FALSE NA 1 6.203 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 46/59 1 possibly_damaging(0.532) NA CAT A,G 8.27e-06 3:4779628 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 missense_variant 4.176839 0.97424 0.94301 0.722319 0.982586919961087 0 0.999999999994095 TRUE 4.06349e-06 ENSE00001121929_014 ENSE00001121929 014 3 4821192 4821361 + 42 96 32 C A 4821318 57 127 GGTGCTACCATCAGATCCGTCACCCGACTCACCAGTTCCTTGGTCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779633 4779634 4779634 exon -12 0.885416666666667 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGACCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 936 110 0.999180399934592 1 0.999590199967296 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0185096734447681 0.152825392163287 0.99559474237887 0.913922667163268 NA 0.0856675328040278 NA FALSE NA 1 7.747 . missense_variant MODERATE ITPR1 HGNC 6180 ENST00000423119 46/59 1 probably_damaging(0.977) NA GCC C,A 8.27e-06 3:4779634 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 missense_variant 6.678379 0.97851 0.96488 0.722319 0.997584489039554 0 0.999999999994095 TRUE 4.06316e-06 ENSE00001121929_017 ENSE00001121929 017 3 4821192 4821361 + 42 96 32 G A 4821337 60 146 GGTGCTACCATCAGATCCGTCACCTGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779652 4779653 4779653 downstr_intron 8 1.25806451612903 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCAGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 546 291 1 1 1 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 0.152825392163287 0.99559474237887 0.913922667163268 NA 0.0860773328367319 NA FALSE NA 0.006 0.269 . splice_region_variant&intron_variant LOW ITPR1 HGNC 6180 ENST00000423119 46/58 1 NA CGG G,A 1.654e-05 3:4779653 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 splice_region_variant 0.01572 0.23743 0.02645 0.048788 0.519457465531366 0.113102 0.999999999994095 TRUE 2.03212e-05 ENSE00001121929_019 ENSE00001121929 019 3 4821192 4821361 + 42 96 32 C T 4821343 62 152 GGTGCTACCATCAGATCCATCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779658 4779659 4779659 downstr_intron 14 1.45161290322581 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGATGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 583 418 1 0.981405029525139 0.990702514762569 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 0.134230421688426 0.99559474237887 0.913922667163268 NA 0.0767798475993012 NA FALSE NA 0 0.617 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 46/58 1 NA ACG C,T 1.654e-05 3:4779659 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 intron_variant -0.154878 0.23076 0.03684 0.035109 0.527014073505353 0.0472885 0.999999999994095 TRUE 1.21959e-05 ENSE00001121929_020 ENSE00001121929 020 3 4821192 4821361 + 42 96 32 G A 4821344 63 153 GGTGCTACCATCAGATCTGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779659 4779660 4779660 downstr_intron 15 1.48387096774194 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACAGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 425 1766 0.859890163846235 0.999481124466523 0.929685644156379 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA -0.120780562643589 0.152306516629811 0.99559474237887 0.913922667163268 NA 0.0157629769931108 NA FALSE NA 0 -2.181 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:4779660 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 intron_variant -0.593673 0.11633 0.01292 0.035109 0.553483178723984 0.0472885 0.999999999994095 TRUE 4.06656e-05 ENSE00001121929_021 ENSE00001121929 021 3 4821192 4821361 + 42 96 32 G T 4821344 64 153 GGTGCTACCATCAGATCAGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779659 4779660 4779660 downstr_intron 15 1.48387096774194 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACTGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 332 43 1 0.951178122211339 0.975589061105669 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 0.104003514374626 0.99559474237887 0.913922667163268 NA 0.0616663939424013 NA FALSE NA 0 -2.181 NA NA NA ITPR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR1 NA NA NA ENSG00000150995 ENSE00001121929 intron_variant -0.900927 0.08065 0.00621 0.035109 0.477570551459131 0.0472885 0.999999999994095 TRUE 4.06656e-06 ENSE00001121929_022 ENSE00001121929 022 3 4821192 4821361 + 42 96 32 G T 4821345 65 154 GGTGCTACCATCAGATACGTCACCCGACTCACCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTCTAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 4779660 4779661 4779661 downstr_intron 16 1.51612903225806 GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGTATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC mutant NA NA NA NA NA 318 462 1 0.996456250717313 0.998228125358657 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 NA NA 0.0193292735101762 0.149281642880601 0.99559474237887 0.913922667163268 NA 0.0843054581953886 NA FALSE NA 0 0.012 . intron_variant MODIFIER ITPR1 HGNC 6180 ENST00000423119 46/58 1 NA GGA G,T 8.27e-06 3:4779661 ITPR1 HGNC Symbol protein_coding 354492 ENSG00000150995 ENSE00001121929 intron_variant -0.371476 0.17233 0.07877 0.035109 0.411176525861331 0.0472885 0.999999999994095 TRUE 4.06517e-06 ENSE00001121929_BRK ENSE00001121929 BRK 3 4821192 4821361 + 42 96 32 A,G; T,T NA NA NA GGTGCTACCATCAGATCCGTCACCCGACTCGGCAGTTCCTTGGGCCTCATGTTATAAAGTATCCTCTCTGCGTTTTCACTGTCGTGCCTGCTTTCCATGATGGCCAGGAGCAACTTCGAGGCATTGTTAAAGTTGGAGAAACAAAGGGAGAGGAAATGTAGAGGGGCTGC 4779507 4779677 NA NA NA NA NA NA GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTTTAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGCCGAGTCGGGTGACGGATCTGATGGTAGCACC GCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAGAACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTGGTGAGTCGGGTGACGGATCTGATGGTAGCACC control 164 255 0 0 0 NA NA NA NA NA 0.997674267006133 0.993515217751607 0.980670726489824 0.847174607836713 -0.997674267006133 -0.993515217751607 NA NA 0.99559474237887 0.913922667163268 -0.99559474237887 NA NA NA TRUE NA NA NA NA NA ITPR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR1 NA NA NA ENSG00000150995 ENSE00001121929 NA NA NA NA NA NA NA 0.999999999994095 TRUE NA ENSE00001123295_000 ENSE00001123295 000 8 71033502 71033671 - 35 90 45 NA NA NA NA NA CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 NA NA NA NA NA NA GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG natural 60 66 0.995922554876159 0.991121275242136 0.993521915059148 4342 4274 0.904222236042084 0.907395890369734 0.905809063205909 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 0 0 0 0 0.993521915059148 0.905809063205909 0 0 0 FALSE FALSE NA NA NA NA NA NCOA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA2 NA NA NA ENSG00000140396 ENSE00001123295 NA NA NA NA NA NA NA 0.999997381929581 TRUE NA ENSE00001123295_001 ENSE00001123295 001 8 71033502 71033671 - 35 90 45 A G 71033515 1403 157 CTTCCATATTCATGTATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121279 70121280 70121280 downstr_intron 22 1.64705882352941 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATACATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 340 356 0.969333835005047 1 0.984666917502523 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0651115989629629 0.0926041096302664 0.993521915059148 0.905809063205909 NA 0.0788578542966147 NA FALSE NA 0 -1.383 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 rs201447033 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 G:0 G:0.0001 TAT A,G 2.483e-05 8:70121280 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 intron_variant -0.428334 0.09545 0.00574 0.156188 0.462015892410745 0.0476178 0.999997381929581 TRUE 1.28513e-05 ENSE00001123295_002 ENSE00001123295 002 8 71033502 71033671 - 35 90 45 C T 71033528 1404 144 CTTCCATATTCATATATTTCACTGTTTTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121292 70121293 70121293 downstr_intron 9 1.26470588235294 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAAAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 596 677 1 0.99994376649717 0.999971883248585 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0957777639579164 0.0925478761274365 0.993521915059148 0.905809063205909 NA 0.0941628200426765 NA FALSE NA 0.01 -1.378 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA TCT C,T 8.277e-06 8:70121293 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 intron_variant 0.897941 0.25521 0.0168 0.156188 0.622002595244586 0.152173 0.999997381929581 TRUE 8.28885e-06 ENSE00001123295_003 ENSE00001123295 003 8 71033502 71033671 - 35 90 45 C A 71033532 1405 140 CTTCCATATTCATATATTTCACTGTTCTTTATTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121296 70121297 70121297 downstr_intron 5 1.14705882352941 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAATAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1605 266 0.909590437293326 0.93060726249684 0.920098849895083 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.00536820125124238 0.0232113721271067 0.993521915059148 0.905809063205909 NA 0.0142897866891745 NA FALSE NA 1 5.316 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA TCT C,A 8.277e-06 8:70121297 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 splice_region_variant 2.558805 0.98806 0.95143 0.156188 0.975197015581061 0.979439 0.999997381929581 TRUE NA ENSE00001123295_004 ENSE00001123295 004 8 71033502 71033671 - 35 90 45 C T 71033538 1406 134 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCTGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121302 70121303 70121303 exon -2 0.988888888888889 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACAGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1159 891 0.997575443243957 0.999350598285411 0.998463020764684 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0933532072018737 0.0919547079156774 0.993521915059148 0.905809063205909 NA 0.0926539575587755 NA FALSE NA 1 5.316 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA CCG C,T 2.483e-05 8:70121303 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 6.566562 0.98757 0.93792 0.732398 0.999252736489773 0 0.999997381929581 TRUE 8.20567e-06 ENSE00001123295_005 ENSE00001123295 005 8 71033502 71033671 - 35 90 45 G A 71033541 1407 131 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTATTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121305 70121306 70121306 exon -5 0.955555555555556 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAATACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1355 1371 0.998186400158704 0.999303006237993 0.998744703198349 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0939641641166205 0.0919071158682594 0.993521915059148 0.905809063205909 NA 0.0929356399924399 NA FALSE NA 1 6.724 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA TGT G,A 8.276e-06 8:70121306 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 4.715698 0.98788 0.96295 0.732398 0.997309471314394 0 0.999997381929581 TRUE 8.18699e-06 ENSE00001123295_006 ENSE00001123295 006 8 71033502 71033671 - 35 90 45 G T 71033544 1408 128 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTTTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121308 70121309 70121309 exon -8 0.922222222222222 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACAAAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1472 3292 0.997156397452346 0.981005950581817 0.989081174017082 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0929341614102622 0.0736100602120838 0.993521915059148 0.905809063205909 NA 0.083272110811173 NA FALSE NA 1 5.035 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA TGT G,T 8.277e-06 8:70121309 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 2.555393 0.98115 0.92657 0.732398 0.963554648447245 0 0.999997381929581 TRUE 4.09125e-06 ENSE00001123295_007 ENSE00001123295 007 8 71033502 71033671 - 35 90 45 T A 71033547 1409 125 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGACTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121311 70121312 70121312 exon -11 0.888888888888889 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGTCACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 974 700 1 0.999945614800118 0.999972807400059 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0957777639579164 0.0925497244303847 0.993521915059148 0.905809063205909 NA 0.0941637441941505 NA FALSE NA 1 5.461 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA GTC T,A 8.277e-06 8:70121312 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 6.6326 0.98542 0.94289 0.732398 0.994651666802714 0 0.999997381929581 TRUE 4.08767e-06 ENSE00001123295_008 ENSE00001123295 008 8 71033502 71033671 - 35 90 45 C A 71033550 1410 122 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTACCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121314 70121315 70121315 exon -14 0.855555555555556 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGTAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 877 94 0.871201399289218 0.985416773043902 0.92830908616656 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA -0.0330208367528657 0.0780208826741684 0.993521915059148 0.905809063205909 NA 0.0225000229606513 NA FALSE NA 1 5.316 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA TCC C,A 8.276e-06 8:70121315 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 7.28286 0.98806 0.95143 0.732398 0.997462091520687 0 0.999997381929581 TRUE 1.22568e-05 ENSE00001123295_009 ENSE00001123295 009 8 71033502 71033671 - 35 90 45 C T 71033551 1411 121 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCTCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121315 70121316 70121316 exon -15 0.844444444444444 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGAGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1922 4682 0.804617700738278 0.964511470926064 0.884564585832171 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA -0.0996045353038055 0.0571155805563308 0.993521915059148 0.905809063205909 NA -0.0212444773737374 NA FALSE NA 1 5.316 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA CCC C,T 8.276e-06 8:70121316 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 7.627007 0.98757 0.93792 0.732398 0.999250116746117 0 0.999997381929581 TRUE 4.0862e-06 ENSE00001123295_011 ENSE00001123295 011 8 71033502 71033671 - 35 90 45 T C 71033556 1413 116 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCCGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121320 70121321 70121321 exon -20 0.788888888888889 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCGGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1169 44 0.903785060784357 1 0.951892530392178 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA -0.000437175257727018 0.0926041096302664 0.993521915059148 0.905809063205909 NA 0.0460834671862697 NA FALSE NA 1 3.878 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 rs199812791 1 NA CTG T,C 1.655e-05 8:70121321 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 3.092821 0.97735 0.89445 0.732398 0.994311074902661 0 0.999997381929581 TRUE 2.8577e-05 ENSE00001123295_012 ENSE00001123295 012 8 71033502 71033671 - 35 90 45 T C 71033566 1414 106 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCACATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121330 70121331 70121331 exon -30 0.677777777777778 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATGTGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 836 204 0.999174255791588 0.996746710350564 0.997960483071076 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0949520197495048 0.0893508199808301 0.993521915059148 0.905809063205909 NA 0.0921514198651674 NA FALSE NA 0.996 2.907 rs61754973 intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 rs61754973 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.001 ATA T,C 0.0005131 8:70121331 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 1.606335 0.96969 0.82468 0.732398 0.991982097163932 0 0.999997381929581 TRUE 0.000493563 ENSE00001123295_013 ENSE00001123295 013 8 71033502 71033671 - 35 90 45 T G 71033572 1415 100 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCAGTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121336 70121337 70121337 exon -36 0.611111111111111 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGACTGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 382 878 0.998263434167287 0.998865009357804 0.998564221762545 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0940411981252032 0.0914691189880701 0.993521915059148 0.905809063205909 NA 0.0927551585566366 NA FALSE NA 1 5.461 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 rs375333943 1 NA G:0.001 G:0 ATT T,G 0.0001159 8:70121337 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 2.597662 0.98555 0.94607 0.732398 0.963078492134682 0 0.999997381929581 TRUE 8.97388e-05 ENSE00001123295_014 ENSE00001123295 014 8 71033502 71033671 - 35 90 45 C A 71033579 1416 93 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGAAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121343 70121344 70121344 exon -43 0.533333333333333 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTTCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 570 443 1 0.99063383962419 0.995316919812095 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0957777639579164 0.0832379492544562 0.993521915059148 0.905809063205909 NA 0.0895078566061863 NA FALSE NA 1 2.064 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA GCA C,A 4.138e-05 8:70121344 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 synonymous_variant 2.252983 0.98137 0.8937 0.732398 0.768921955035327 0 0.999997381929581 TRUE 2.0398e-05 ENSE00001123295_015 ENSE00001123295 015 8 71033502 71033671 - 35 90 45 A G 71033580 1417 92 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCGGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121344 70121345 70121345 exon -44 0.522222222222222 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCCGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 965 289 0.943874301351806 1 0.971937150675903 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0396520653097222 0.0926041096302664 0.993521915059148 0.905809063205909 NA 0.0661280874699943 NA FALSE NA 1 6.363 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA CAG A,G 8.275e-06 8:70121345 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 6.649995 0.98541 0.95751 0.732398 0.999176418779236 0 0.999997381929581 TRUE 4.07834e-06 ENSE00001123295_016 ENSE00001123295 016 8 71033502 71033671 - 35 90 45 G A 71033585 1418 87 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGATTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121349 70121350 70121350 exon 42 0.466666666666667 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAATCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1544 120 0.997112639886444 0.998679768112497 0.997896203999471 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0928904038443605 0.0912838777427636 0.993521915059148 0.905809063205909 NA 0.0920871407935621 NA FALSE NA 1 6.724 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA GGT G,A 8.275e-06 8:70121350 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 synonymous_variant 1.387688 0.98788 0.96295 0.732398 0.720489338817868 0 0.999997381929581 TRUE NA ENSE00001123295_017 ENSE00001123295 017 8 71033502 71033671 - 35 90 45 G A 71033590 1419 82 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGAGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121354 70121355 70121355 exon 37 0.411111111111111 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCTCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 976 2920 0.995109121804828 0.841629089071682 0.918369105438255 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0908868857627446 -0.0657668012980512 0.993521915059148 0.905809063205909 NA 0.0125600422323467 NA FALSE NA 1 1.8 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA GGG G,A 8.274e-06 8:70121355 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 2.136083 0.9753 0.83052 0.732398 0.313703975728456 0 0.999997381929581 TRUE 4.0848e-06 ENSE00001123295_018 ENSE00001123295 018 8 71033502 71033671 - 35 90 45 G A 71033591 1420 81 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGAAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121355 70121356 70121356 exon 36 0.4 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTTCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1028 2849 0.958447956498156 0.998283641180496 0.978365798839326 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0542257204560721 0.0908877508107619 0.993521915059148 0.905809063205909 NA 0.072556735633417 NA FALSE NA 1 3.738 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA GGA G,A 8.274e-06 8:70121356 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 synonymous_variant 1.5181 0.97304 0.72956 0.732398 0.724572359691376 0 0.999997381929581 TRUE 1.22543e-05 ENSE00001123295_020 ENSE00001123295 020 8 71033502 71033671 - 35 90 45 G C 71033611 1422 61 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCACAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121375 70121376 70121376 exon 16 0.177777777777778 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTGTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 642 427 1 1 1 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0957777639579164 0.0926041096302664 0.993521915059148 0.905809063205909 NA 0.0941909367940914 NA FALSE NA 1 4.504 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA AGA G,C 8.272e-06 8:70121376 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 2.980915 0.98014 0.87336 0.732398 0.995630684363502 0 0.999997381929581 TRUE NA ENSE00001123295_021 ENSE00001123295 021 8 71033502 71033671 - 35 90 45 A T 71033618 1423 54 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGTTCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121382 70121383 70121383 exon 9 0.1 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGAACCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 531 663 0.998185603297411 0.998901870035863 0.998543736666637 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0939633672553276 0.0915059796661295 0.993521915059148 0.905809063205909 NA 0.0927346734607286 NA FALSE NA 0.52 -0.423 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA GAT A,T 8.273e-06 8:70121383 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 2.604502 0.89505 0.2696 0.732398 0.989168729166042 0 0.999997381929581 TRUE 4.13832e-06 ENSE00001123295_022 ENSE00001123295 022 8 71033502 71033671 - 35 90 45 T C 71033622 1424 50 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCACTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121386 70121387 70121387 exon 5 0.0555555555555556 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAGTGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1244 991 0.944707820077849 0.9998403784279 0.972274099252874 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0404855840357652 0.0924444880581662 0.993521915059148 0.905809063205909 NA 0.0664650360469657 NA FALSE NA 1 1.204 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA ATT T,C 1.655e-05 8:70121387 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 missense_variant 1.379846 0.97721 0.80849 0.732398 0.990917314897902 0 0.999997381929581 TRUE 1.2416e-05 ENSE00001123295_023 ENSE00001123295 023 8 71033502 71033671 - 35 90 45 G A 71033631 1425 41 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAAGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121395 70121396 70121396 upstr_intron -5 -0.0888888888888889 GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCTTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 2201 1008 0.998744407401411 0.997881666782539 0.998313037091975 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0945221713593276 0.0904857764128059 0.993521915059148 0.905809063205909 NA 0.0925039738860667 NA FALSE NA 0.008 0.764 rs73285372 intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 rs73285372 1 A:0.0034 A:0.0121 A:0.0014 NA A:0 A:0 A:0 A:0.011 A:0 AGG G,A 0.001142 8:70121396 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 splice_region_variant -0.091112 0.18493 0.05732 0.106106 0.366238912757933 0.119482 0.999997381929581 TRUE 0.000915781 ENSE00001123295_024 ENSE00001123295 024 8 71033502 71033671 - 35 90 45 A G 71033648 1426 24 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACGGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 70121412 70121413 70121413 upstr_intron -22 -0.466666666666667 GACATTCTGCTCTGCGTAGCCACCGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 733 610 0.892169528445764 1 0.946084764222882 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA -0.0120527075963196 0.0926041096302664 0.993521915059148 0.905809063205909 NA 0.0402757010169734 NA FALSE NA 0.016 0.687 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA CAG A,G 4.965e-05 8:70121413 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 intron_variant -0.151783 0.17342 0.03728 0.106106 0.476985514164135 0.0757112 0.999997381929581 TRUE 2.58694e-05 ENSE00001123295_025 ENSE00001123295 025 8 71033502 71033671 - 35 90 45 C T 71033656 1427 16 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTATGCAGAGCAGAATGTC 70121266 70121436 70121420 70121421 70121421 upstr_intron -30 -0.644444444444444 GACATTCTGCTCTGCATAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 1006 856 0.999672276455306 1 0.999836138227653 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0954500404132228 0.0926041096302664 0.993521915059148 0.905809063205909 NA 0.0940270750217446 NA FALSE NA 0 -5.669 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 1 NA ACG C,T 2.483e-05 8:70121421 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 intron_variant -0.176277 0.10223 0.00133 0.106106 0.477607384961295 0.0540496 0.999997381929581 TRUE 2.26181e-05 ENSE00001123295_026 ENSE00001123295 026 8 71033502 71033671 - 35 90 45 G C 71033660 1428 12 CTTCCATATTCATATATTTCACTGTTCTTTCTTACCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACCTAAGGACAAGAAGACAGGACAGTGGCTACGCACAGCAGAATGTC 70121266 70121436 70121424 70121425 70121425 upstr_intron -34 -0.733333333333333 GACATTCTGCTGTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG mutant NA NA NA NA NA 130 800 1 0.989294921764187 0.994647460882093 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 NA NA 0.0957777639579164 0.0818990313944534 0.993521915059148 0.905809063205909 NA 0.0888383976761849 NA FALSE NA 0 -1.387 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 20/20 rs199742279 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AGA G,C 8.278e-06 8:70121425 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00001123295 intron_variant -0.4976 0.09068 0.00615 0.106106 0.272692811086984 0.0540496 0.999997381929581 TRUE 4.6128e-06 ENSE00001123295_BRK ENSE00001123295 BRK 8 71033502 71033671 - 35 90 45 A,G; T,T NA NA NA CTTCCATATTCATATATTTCACTGTTCTTTCTTGGCCGTGTTGTGTCTCCCTCCTGCTTAATCATATCCATTCCAGGCAGCTGGTTTGGGAACAGGTTGCCTCCCCTCAGAGCAGGATCATTAACAAAAGGACAAGAAGACAGGACAGTGGCTACGCAGAGCAGAATGTC 70121266 70121436 NA NA NA NA NA NA GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTTTGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGCCAAGAAAGAACAGTGAAATATATGAATATGGAAG GACATTCTGCTCTGCGTAGCCACTGTCCTGTCTTCTTGTCCTTAGGTTAATGATCCTGCTCTGAGGGGAGGCAACCTGTTCCCAAACCAGCTGCCTGGAATGGATATGATTAAGCAGGAGGGAGACACAACACGGGTAAGAAAGAACAGTGAAATATATGAATATGGAAG control 107 182 0 0 0 350 1189 0.0890545112082566 0.0224159198732866 0.0557352155407716 0.995922554876159 0.991121275242136 0.904222236042084 0.907395890369734 -0.995922554876159 -0.991121275242136 -0.815167724833827 -0.884979970496447 0.993521915059148 0.905809063205909 -0.993521915059148 -0.850073847665137 0.143448067394011 TRUE TRUE NA NA NA NA NA NCOA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA2 NA NA NA ENSG00000140396 ENSE00001123295 NA NA NA NA NA NA NA 0.999997381929581 TRUE NA ENSE00001123597_000 ENSE00001123597 000 11 591336 591505 + 48 84 38 NA NA NA NA NA AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT 591335 591505 NA NA NA NA NA NA AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT natural 29 13 0.94605622097467 0.992052680072951 0.969054450523811 528 417 0.872189944805648 0.76688375780711 0.819536851306379 0.94605622097467 0.992052680072951 0.872189944805648 0.76688375780711 0 0 0 0 0.969054450523811 0.819536851306379 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHRF1 NA NA NA ENSG00000070047 ENSE00001123597 NA NA NA NA NA NA NA 0.948919011202068 TRUE NA ENSE00001123597_021 ENSE00001123597 021 11 591336 591505 + 48 84 38 G T 591451 21 116 AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGTTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT 591335 591505 591450 591451 591451 exon -17 0.80952380952381 AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGTTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT mutant NA NA NA NA NA 20 284 1 0.999865884912825 0.999932942456412 0.94605622097467 0.992052680072951 0.872189944805648 0.76688375780711 NA NA 0.127810055194352 0.232982127105715 0.969054450523811 0.819536851306379 NA 0.180396091150034 NA FALSE NA 1 8.016 NA NA NA PHRF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:591451 PHRF1 HGNC Symbol protein_coding 35736 ENSG00000070047 ENSE00001123597 missense_variant 6.041663 0.9871 0.97869 0.732398 0.997785869544166 0 0.948919011202068 TRUE 4.16694e-06 ENSE00001123597_024 ENSE00001123597 024 11 591336 591505 + 48 84 38 A G 591465 24 130 AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAGAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT 591335 591505 591464 591465 591465 exon -3 0.976190476190476 AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAGAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT mutant NA NA NA NA NA 39 242 1 1 1 0.94605622097467 0.992052680072951 0.872189944805648 0.76688375780711 NA NA 0.127810055194352 0.23311624219289 0.969054450523811 0.819536851306379 NA 0.180463148693621 NA FALSE NA 1 7.59 . missense_variant&splice_region_variant MODERATE PHRF1 HGNC 24351 ENST00000416188 5/18 1 deleterious(0.01) benign(0.07) NA AAA A,G 1.655e-05 11:591465 PHRF1 HGNC Symbol protein_coding 35736 ENSG00000070047 ENSE00001123597 missense_variant 2.284937 0.98349 0.97464 0.732398 0.989827473344841 0 0.948919011202068 TRUE 8.39306e-06 ENSE00001123597_030 ENSE00001123597 030 11 591336 591505 + 48 84 38 G A 591486 30 151 AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCATGGAGGCCCCAGCCGTGCT 591335 591505 591485 591486 591486 downstr_intron 19 1.51351351351351 AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCATGGAGGCCCCAGCCGTGCT AAGTGAAAGTGATTGACAAGATTCTGATCCTGTTTTTATTTCTCACAGAATGCCAATTCCTGTCCAGTTGATCGAACTCTATTTAAGTGCATTTGTATTCGAGCTCAATTTGGTGGTAAAATCTTAAGAAAGGTGAGTGTGGACGCTGCCGTGGAGGCCCCAGCCGTGCT mutant NA NA NA NA NA 51 75 1 1 1 0.94605622097467 0.992052680072951 0.872189944805648 0.76688375780711 NA NA 0.127810055194352 0.23311624219289 0.969054450523811 0.819536851306379 NA 0.180463148693621 NA FALSE NA 0 -0.776 . intron_variant MODIFIER PHRF1 HGNC 24351 ENST00000416188 5/17 1 NA CGT G,A 1.655e-05 11:591486 PHRF1 HGNC Symbol protein_coding 35736 ENSG00000070047 ENSE00001123597 intron_variant -0.172057 0.10705 0.03925 0.106106 0.680260706653956 0.0476178 0.948919011202068 TRUE NA ENSE00001124475_000 ENSE00001124475 000 15 62994924 62995093 + 41 99 30 NA NA NA NA NA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 NA NA NA NA NA NA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA natural NA NA NA NA NA 654 1744 0.987273822577386 0.984805063038637 0.986039442808012 NA NA 0.987273822577386 0.984805063038637 NA NA 0 0 NA 0.986039442808012 NA 0 NA FALSE NA NA NA NA NA NA TLN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLN2 NA NA NA ENSG00000171914 ENSE00001124475 NA NA NA NA NA NA NA 0.999853230773704 TRUE NA ENSE00001124475_003 ENSE00001124475 003 15 62994924 62995093 + 41 99 30 A C 62994944 1205 21 ATGCGTTTTCTTTCCAATTACGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702744 62702745 62702745 upstr_intron -21 -0.48780487804878 ATGCGTTTTCTTTCCAATTACGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 494 270 0.993315369189222 1 0.996657684594611 NA NA 0.987273822577386 0.984805063038637 NA NA 0.00604154661183609 0.0151949369613626 NA 0.986039442808012 NA 0.0106182417865994 NA FALSE NA 0 0.63 . intron_variant MODIFIER TLN2 HGNC 15447 ENST00000561311 17/57 1 NA AAG A,C 8.236e-06 15:62702745 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 intron_variant 0.311942 0.29736 0.26473 0.053691 0.645707470450169 0.103928 0.999853230773704 TRUE 4.06105e-06 ENSE00001124475_004 ENSE00001124475 004 15 62994924 62995093 + 41 99 30 G A 62994945 1206 22 ATGCGTTTTCTTTCCAATTAAAGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702745 62702746 62702746 upstr_intron -20 -0.463414634146341 ATGCGTTTTCTTTCCAATTAAAGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 728 231 1 0.999314740417503 0.999657370208752 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0127261774226141 0.0145096773788661 NA 0.986039442808012 NA 0.0136179274007401 NA FALSE NA 0 -0.859 . intron_variant MODIFIER TLN2 HGNC 15447 ENST00000561311 17/57 1 NA AGG G,A 8.236e-06 15:62702746 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 intron_variant 0.349235 0.23732 0.04679 0.053691 0.620136595248355 0.103928 0.999853230773704 TRUE 4.06088e-06 ENSE00001124475_006 ENSE00001124475 006 15 62994924 62995093 + 41 99 30 G A 62994953 1208 30 ATGCGTTTTCTTTCCAATTAAGGTGTGTTATTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702753 62702754 62702754 upstr_intron -12 -0.268292682926829 ATGCGTTTTCTTTCCAATTAAGGTGTGTTATTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 401 90 0.998969186108829 0.81976482902564 0.909367007567234 NA NA 0.987273822577386 0.984805063038637 NA NA 0.011695363531443 -0.165040234012998 NA 0.986039442808012 NA -0.0766724352407774 NA FALSE NA 0.001 -0.424 . intron_variant MODIFIER TLN2 HGNC 15447 ENST00000561311 17/57 rs376480110 1 NA A:0.0002 A:0 TGT G,A 5.765e-05 15:62702754 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 intron_variant 0.717686 0.26326 0.02983 0.074636 0.635670792897211 0.103928 0.999853230773704 TRUE 6.09127e-05 ENSE00001124475_007 ENSE00001124475 007 15 62994924 62995093 + 41 99 30 T C 62994958 1209 35 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGCTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702758 62702759 62702759 upstr_intron -7 -0.146341463414634 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGCTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 19 673 1 0.999489439157361 0.99974471957868 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0127261774226141 0.0146843761187235 NA 0.986039442808012 NA 0.0137052767706688 NA FALSE NA 0.873 2.295 . splice_region_variant&intron_variant LOW TLN2 HGNC 15447 ENST00000561311 17/57 1 NA GTT T,C 4.118e-05 15:62702759 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 splice_region_variant 1.204789 0.32938 0.21704 0.074636 0.746388245790684 0.223647 0.999853230773704 TRUE 4.8729e-05 ENSE00001124475_008 ENSE00001124475 008 15 62994924 62995093 + 41 99 30 T C 62994959 1210 36 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTCCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702759 62702760 62702760 upstr_intron -6 -0.121951219512195 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTCCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 1003 260 0.998555022835974 0.989622148667627 0.9940885857518 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0112812002585877 0.0048170856289893 NA 0.986039442808012 NA 0.0080491429437885 NA FALSE NA 0.842 1.431 . splice_region_variant&intron_variant LOW TLN2 HGNC 15447 ENST00000561311 17/57 1 NA TTC T,C 8.236e-06 15:62702760 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 splice_region_variant 1.300528 0.33219 0.43649 0.074636 0.759279402954446 0.29046 0.999853230773704 TRUE 4.06081e-06 ENSE00001124475_010 ENSE00001124475 010 15 62994924 62995093 + 41 99 30 C T 62994965 1212 42 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGTCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702765 62702766 62702766 exon 1 0.0101010101010101 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGTCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 34 673 1 0.99994343215263 0.999971716076315 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0127261774226141 0.015138369113993 NA 0.986039442808012 NA 0.0139322732683035 NA FALSE NA 1 7.764 . missense_variant&splice_region_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 1 tolerated(0.12) benign(0.026) NA GCC C,T 8.236e-06 15:62702766 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 3.69667 0.9958 0.99662 0.706298 0.996890522174655 0 0.999853230773704 TRUE 4.06065e-06 ENSE00001124475_013 ENSE00001124475 013 15 62994924 62995093 + 41 99 30 C G 62994975 1215 52 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGAGAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702775 62702776 62702776 exon 11 0.111111111111111 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGAGAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 690 154 0.99958175250986 1 0.99979087625493 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0123079299324736 0.0151949369613626 NA 0.986039442808012 NA 0.0137514334469181 NA FALSE NA 1 5.948 . missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 1 tolerated(0.06) benign(0.102) NA ACA C,G 8.236e-06 15:62702776 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 3.713183 0.99614 0.99283 0.706298 0.991146558899868 0 0.999853230773704 TRUE 4.06058e-06 ENSE00001124475_014 ENSE00001124475 014 15 62994924 62995093 + 41 99 30 G A 62994977 1216 54 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAATTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702777 62702778 62702778 exon 13 0.131313131313131 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAATTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant 41 51 0 0 0 NA NA NA NA NA NA NA 0.987273822577386 0.984805063038637 NA NA NA NA NA 0.986039442808012 NA NA NA NA NA 1 7.932 . missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 1 tolerated(0.11) benign(0.129) NA AGT G,A 1.647e-05 15:62702778 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 3.648794 0.99605 0.98837 0.706298 0.996972047933855 0 0.999853230773704 TRUE 2.43635e-05 ENSE00001124475_015 ENSE00001124475 015 15 62994924 62995093 + 41 99 30 T A 62994980 1217 57 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTATGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702780 62702781 62702781 exon 16 0.161616161616162 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTATGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 277 617 0.991850002532112 1 0.995925001266056 NA NA 0.987273822577386 0.984805063038637 NA NA 0.00457617995472637 0.0151949369613626 NA 0.986039442808012 NA 0.00988555845804451 NA FALSE NA 0.851 0.407 . missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 rs370005049 1 deleterious(0.04) probably_damaging(0.974) NA C:0 C:0.0001 TTT T,A 8.236e-06 15:62702781 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 3.856738 0.91784 0.83023 0.706298 0.99564897359068 0 0.999853230773704 TRUE 4.06058e-06 ENSE00001124475_018 ENSE00001124475 018 15 62994924 62995093 + 41 99 30 A G 62994995 1220 72 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCGGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702795 62702796 62702796 exon 31 0.313131313131313 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCGGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 135 495 1 0.89422002441161 0.947110012205805 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0127261774226141 -0.0905850386270274 NA 0.986039442808012 NA -0.0389294306022067 NA FALSE NA 1 7.476 . missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 1 tolerated(0.1) benign(0.102) NA CAG A,G 8.236e-06 15:62702796 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 2.970856 0.99454 0.98483 0.706298 0.996419971522308 0 0.999853230773704 TRUE 4.06058e-06 ENSE00001124475_021 ENSE00001124475 021 15 62994924 62995093 + 41 99 30 G A 62995007 1223 84 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAACCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702807 62702808 62702808 exon 43 0.434343434343434 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAACCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 736 28 0.997169458985382 1 0.998584729492691 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0098956364079964 0.0151949369613626 NA 0.986039442808012 NA 0.0125452866846795 NA FALSE NA 1 6.592 rs141111357 missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 rs141111357 1 tolerated(0.32) benign(0.262) NA A:0 A:0.0001 AGC G,A 8.236e-06 15:62702808 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 3.514791 0.99294 0.97367 0.706298 0.997754842199795 0 0.999853230773704 TRUE 4.06055e-06 ENSE00001124475_022 ENSE00001124475 022 15 62994924 62995093 + 41 99 30 A G 62995010 1224 87 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCGGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702810 62702811 62702811 exon 46 0.464646464646465 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCGGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 257 72 1 1 1 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0127261774226141 0.0151949369613626 NA 0.986039442808012 NA 0.0139605571919884 NA FALSE NA 1 9.291 . missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 1 tolerated(0.11) benign(0.076) NA CAG A,G 8.236e-06 15:62702811 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 3.123241 0.99454 0.9928 0.706298 0.996170378763453 0 0.999853230773704 TRUE 4.06055e-06 ENSE00001124475_023 ENSE00001124475 023 15 62994924 62995093 + 41 99 30 G T 62995011 1225 88 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCATTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702811 62702812 62702812 exon 47 0.474747474747475 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCATTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 510 22 0.908585866152407 1 0.954292933076204 NA NA 0.987273822577386 0.984805063038637 NA NA -0.0786879564249785 0.0151949369613626 NA 0.986039442808012 NA -0.0317465097318079 NA FALSE NA 1 7.912 . missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 1 deleterious(0) probably_damaging(0.931) NA AGT G,T 8.236e-06 15:62702812 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 6.961241 0.99335 0.98833 0.706298 0.997272990257515 0 0.999853230773704 TRUE 8.1211e-06 ENSE00001124475_024 ENSE00001124475 024 15 62994924 62995093 + 41 99 30 A G 62995050 1226 127 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGGTGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702850 62702851 62702851 exon -14 0.868686868686869 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGGTGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 205 87 1 0.986731872656409 0.993365936328205 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0127261774226141 0.0019268096177717 NA 0.986039442808012 NA 0.00732649352019288 NA FALSE NA 1 9.291 . missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 1 deleterious(0.01) benign(0.04) NA GAT A,G 8.236e-06 15:62702851 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 4.765266 0.99454 0.9928 0.615465 0.998419247734601 0 0.999853230773704 TRUE 8.12123e-06 ENSE00001124475_025 ENSE00001124475 025 15 62994924 62995093 + 41 99 30 G A 62995054 1227 131 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAACGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702854 62702855 62702855 exon -10 0.909090909090909 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAACGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 47 71 1 0.8 0.9 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0127261774226141 -0.184805063038637 NA 0.986039442808012 NA -0.0860394428080116 NA FALSE NA 1 2.225 . synonymous_variant LOW TLN2 HGNC 15447 ENST00000561311 18/58 1 NA AGC G,A 8.236e-06 15:62702855 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 synonymous_variant 0.877292 0.9839 0.90967 0.615465 0.465742525063152 0 0.999853230773704 TRUE 4.06068e-06 ENSE00001124475_026 ENSE00001124475 026 15 62994924 62995093 + 41 99 30 G A 62995056 1228 133 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCAATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA 62702724 62702894 62702856 62702857 62702857 exon -8 0.929292929292929 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCAATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 14 23 1 1 1 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0127261774226141 0.0151949369613626 NA 0.986039442808012 NA 0.0139605571919884 NA FALSE NA 1 5.515 rs144036109 missense_variant MODERATE TLN2 HGNC 15447 ENST00000561311 18/58 rs144036109&COSM3786545 1 tolerated(0.31) benign(0.001) A:0.0018 A:0 A:0 NA A:0.001 A:0.004 A:0.0041 A:0.0002 A:0.0036 CGA G,A 0.002438 15:62702857 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 missense_variant 3.422057 0.98696 0.94924 0.615465 0.994753727638014 0 0.999853230773704 TRUE 0.00260292 ENSE00001124475_028 ENSE00001124475 028 15 62994924 62995093 + 41 99 30 G A 62995075 1230 152 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTACAGGCTTATAGTCATGGA 62702724 62702894 62702875 62702876 62702876 downstr_intron 12 1.41379310344828 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTACAGGCTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 224 237 0.998148173981381 1 0.999074086990691 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0108743514039952 0.0151949369613626 NA 0.986039442808012 NA 0.0130346441826789 NA FALSE NA 0 -0.147 . intron_variant MODIFIER TLN2 HGNC 15447 ENST00000561311 18/57 rs373760172 1 NA A:0 A:0.0001 TGC G,A 8.236e-06 15:62702876 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 intron_variant 0.156805 0.28009 0.02658 0.053691 0.483809603186763 0.0443366 0.999853230773704 TRUE 4.06081e-06 ENSE00001124475_030 ENSE00001124475 030 15 62994924 62995093 + 41 99 30 C T 62995080 1232 157 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGTTTATAGTCATGGA 62702724 62702894 62702880 62702881 62702881 downstr_intron 17 1.58620689655172 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGTTTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 234 95 0.983897175256146 1 0.991948587628073 NA NA 0.987273822577386 0.984805063038637 NA NA -0.00337664732123988 0.0151949369613626 NA 0.986039442808012 NA 0.00590914482006138 NA FALSE NA 0 -0.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:62702881 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 intron_variant -0.078779 0.18743 0.00366 0.053691 0.381579723453056 0.0443366 0.999853230773704 TRUE 4.06121e-06 ENSE00001124475_031 ENSE00001124475 031 15 62994924 62995093 + 41 99 30 C A 62995080 1233 157 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGATTATAGTCATGGA 62702724 62702894 62702880 62702881 62702881 downstr_intron 17 1.58620689655172 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGATTATAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 2166 31 0.998795093828394 0.994863667242231 0.996829380535313 NA NA 0.987273822577386 0.984805063038637 NA NA 0.0115212712510082 0.0100586042035936 NA 0.986039442808012 NA 0.0107899377273009 NA FALSE NA 0 -0.001 NA NA NA TLN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLN2 NA NA NA ENSG00000171914 ENSE00001124475 intron_variant 0.007216 0.18409 0.03682 0.053691 0.359833384152941 0.0443366 0.999853230773704 TRUE 4.06121e-06 ENSE00001124475_032 ENSE00001124475 032 15 62994924 62995093 + 41 99 30 A G 62995083 1234 160 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTGTAGTCATGGA 62702724 62702894 62702883 62702884 62702884 downstr_intron 20 1.68965517241379 ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTGTAGTCATGGA ATGCGTTTTCTTTCCAATTAAGGTGTGTTGTTTGTTCACAGCCTCGACAGACAGTTTTGACTGCTGCTGGCAGCATCGGACAAGCCAGTGGGGATCTTCTGAGACAGATTGGAGAGAATGAGACTGATGAGCGATTCCAGGTAAGATATTTGCAGGCTTATAGTCATGGA mutant NA NA NA NA NA 391 255 0.983986984070755 1 0.991993492035378 NA NA 0.987273822577386 0.984805063038637 NA NA -0.00328683850663081 0.0151949369613626 NA 0.986039442808012 NA 0.00595404922736592 NA FALSE NA 0 -1.005 . intron_variant MODIFIER TLN2 HGNC 15447 ENST00000561311 18/57 rs368005039 1 NA G:0 G:0.0001 TAT A,G 3.295e-05 15:62702884 TLN2 HGNC Symbol protein_coding 454105 ENSG00000171914 ENSE00001124475 intron_variant -0.138777 0.16624 0.03573 0.053691 0.29950338557057 0.0443366 0.999853230773704 TRUE 1.2183e-05 ENSE00001125865_000 ENSE00001125865 000 17 4684034 4684203 + 50 81 39 NA NA NA NA NA GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 NA NA NA NA NA NA GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG natural 806 931 0.861432971369571 0.841664378598603 0.851548674984087 886 1425 0.892736930593738 0.943780517338087 0.918258723965913 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 0 0 0 0 0.851548674984087 0.918258723965913 0 0 0 FALSE FALSE NA NA NA NA NA VMO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF5 NA NA NA ENSG00000142484 ENSE00003490946 NA NA NA NA NA NA NA 1.24445437027964e-05 FALSE NA ENSE00001125865_001 ENSE00001125865 001 17 4684034 4684203 + 50 81 39 G C 4684047 459 14 GCCTGGAGGATCTCGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780751 4780752 4780752 upstr_intron -37 -0.72 GCCTGGAGGATCTCGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 114 217 0.85 0.85 0.85 667 225 0.928900472803508 0.791161745613417 0.860031109208462 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 0.0361635422097701 -0.152618771724671 0.851548674984087 0.918258723965913 -0.00154867498408706 -0.0582276147574504 0.0566789397733633 FALSE FALSE 0 -0.089 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA TGG G,C 4.119e-05 17:4780752 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant -0.073426 0.19746 0.09256 0.06567 0.470676706758011 0.0615348 1.24445437027964e-05 FALSE 3.64163e-05 ENSE00001125865_002 ENSE00001125865 002 17 4684034 4684203 + 50 81 39 G C 4684048 460 15 GCCTGGAGGATCTGCGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780752 4780753 4780753 upstr_intron -36 -0.7 GCCTGGAGGATCTGCGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 61 61 0.85 0.85 0.85 193 293 0.866368315161293 0.892853474714756 0.879610894938024 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 -0.0263686154324454 -0.0509270426233311 0.851548674984087 0.918258723965913 -0.00154867498408706 -0.0386478290278883 0.0370991540438012 FALSE FALSE 0 0.012 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA GGG G,C 8.237e-06 17:4780753 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant -0.154261 0.13477 0.04529 0.06567 0.441288346973179 0.0615348 1.24445437027964e-05 FALSE 4.53581e-06 ENSE00001125865_003 ENSE00001125865 003 17 4684034 4684203 + 50 81 39 C T 4684054 461 21 GCCTGGAGGATCTGGGGGGATGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780758 4780759 4780759 upstr_intron -30 -0.58 GCCTGGAGGATCTGGGGGGATGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 354 496 0.856002404064477 0.872940630299891 0.864471517182184 NA NA NA NA NA 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.00543056730509373 0.0312762517012876 NA NA 0.851548674984087 0.918258723965913 0.0129228421980969 NA NA NA FALSE 0 -0.01 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs368116378 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0001 ACG C,T 3.295e-05 17:4780759 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant -0.577461 0.10093 0.03547 0.06567 0.59403573480721 0.0796998 1.24445437027964e-05 FALSE 9.3648e-05 ENSE00001125865_004 ENSE00001125865 004 17 4684034 4684203 + 50 81 39 G C 4684055 462 22 GCCTGGAGGATCTGGGGGGACCTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780759 4780760 4780760 upstr_intron -29 -0.56 GCCTGGAGGATCTGGGGGGACCTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 345 351 0.846815907148845 0.861722190149037 0.854269048648941 548 247 0.967569699497325 0.967544007404911 0.967556853451118 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.0146170642207264 0.0200578115504334 0.0748327689035874 0.0237634900668235 0.851548674984087 0.918258723965913 0.0027203736648535 0.0492981294852055 0.046577755820352 FALSE FALSE 0 -0.947 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA CGT G,C 8.237e-06 17:4780760 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant -0.802633 0.11325 0.01075 0.06567 0.441342739662805 0.0796998 1.24445437027964e-05 FALSE 8.82877e-06 ENSE00001125865_005 ENSE00001125865 005 17 4684034 4684203 + 50 81 39 C A 4684058 463 25 GCCTGGAGGATCTGGGGGGACGTGATATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780762 4780763 4780763 upstr_intron -26 -0.5 GCCTGGAGGATCTGGGGGGACGTGATATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 79 136 0.85 0.877027126115999 0.863513563057999 825 550 0.943760190873203 0.935108155235928 0.939434173054566 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.0353627475173954 0.0510232602794647 -0.00867236210215894 0.851548674984087 0.918258723965913 0.0119648880739122 0.0211754490886529 0.00921056101474066 FALSE FALSE 0 0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:4780763 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant 0.110308 0.23769 0.15172 0.06567 0.646291359081724 0.0796998 1.24445437027964e-05 FALSE NA ENSE00001125865_006 ENSE00001125865 006 17 4684034 4684203 + 50 81 39 C T 4684058 464 25 GCCTGGAGGATCTGGGGGGACGTGTTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780762 4780763 4780763 upstr_intron -26 -0.5 GCCTGGAGGATCTGGGGGGACGTGTTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 102 236 0.85 0.85 0.85 276 110 0.88519613555354 0.996073314180393 0.940634724866966 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 -0.00754079504019811 0.0522927968423054 0.851548674984087 0.918258723965913 -0.00154867498408706 0.0223760009010536 0.0239246758851407 FALSE FALSE 0 0.042 NA NA NA VMO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF5 NA NA NA ENSG00000142484 ENSE00003490946 intron_variant 0.139028 0.23115 0.06313 0.06567 0.608604574716582 0.0796998 1.24445437027964e-05 FALSE NA ENSE00001125865_007 ENSE00001125865 007 17 4684034 4684203 + 50 81 39 A C 4684069 465 36 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGCCTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780773 4780774 4780774 upstr_intron -15 -0.28 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGCCTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 70 91 0.85 0.85 0.85 245 290 0.95 0.97328769293243 0.961643846466215 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 0.0572630694062618 0.0295071755943423 0.851548674984087 0.918258723965913 -0.00154867498408706 0.0433851225003021 0.0449337974843891 FALSE FALSE 0.239 1.119 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA GAC A,C 8.237e-06 17:4780774 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant 0.047806 0.28593 0.39438 0.06567 0.6468895439843 0.0807423 1.24445437027964e-05 FALSE 8.5419e-06 ENSE00001125865_008 ENSE00001125865 008 17 4684034 4684203 + 50 81 39 C T 4684070 466 37 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGATTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780774 4780775 4780775 upstr_intron -14 -0.26 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGATTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant NA NA NA NA NA 419 1252 0.963790906989711 0.971344862966334 0.967567884978022 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 NA NA 0.0710539763959731 0.0275643456282465 0.851548674984087 0.918258723965913 NA 0.0493091610121098 NA FALSE NA 0.251 1.447 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA ACT C,T 8.237e-06 17:4780775 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant 0.462539 0.35034 0.38336 0.06567 0.698557923558626 0.0807423 1.24445437027964e-05 FALSE NA ENSE00001125865_009 ENSE00001125865 009 17 4684034 4684203 + 50 81 39 C T 4684072 467 39 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTTTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780776 4780777 4780777 upstr_intron -12 -0.22 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTTTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 61 71 0.85 0.85 0.85 1298 903 0.964230195229315 0.959411055186119 0.961820625207717 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 0.0714932646355774 0.0156305378480316 0.851548674984087 0.918258723965913 -0.00154867498408706 0.0435619012418045 0.0451105762258915 FALSE FALSE 0.005 -0.596 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA TCT C,T 8.237e-06 17:4780777 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant 0.109339 0.30791 0.03266 0.06567 0.666849733904324 0.0807423 1.24445437027964e-05 FALSE NA ENSE00001125865_010 ENSE00001125865 010 17 4684034 4684203 + 50 81 39 T A 4684074 468 41 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTAGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780778 4780779 4780779 upstr_intron -10 -0.18 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTAGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 255 469 0 0 0 283 146 0.024823036263487 0 0.0124115181317435 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.861432971369571 -0.841664378598603 -0.867913894330251 -0.943780517338087 0.851548674984087 0.918258723965913 -0.851548674984087 -0.905847205834169 0.0542985308500822 TRUE TRUE 0 -0.886 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs371683186 1 NA C:0.0002 C:0 TTG T,A 8.237e-06 17:4780779 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant 0.495419 0.2142 0.05877 0.06567 0.847221205906603 0.134458 1.24445437027964e-05 FALSE NA ENSE00001125865_011 ENSE00001125865 011 17 4684034 4684203 + 50 81 39 G T 4684075 469 42 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTTTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780779 4780780 4780780 upstr_intron -9 -0.16 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTTTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant NA NA NA NA NA 141 773 0.812245568101184 0.998852944626689 0.905549256363936 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 NA NA -0.0804913624925544 0.0550724272886012 0.851548674984087 0.918258723965913 NA -0.0127094676019766 NA FALSE NA 0 -0.534 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA TGT G,T 8.237e-06 17:4780780 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 intron_variant 0.034267 0.18598 0.01937 0.06567 0.778316252476381 0.0807423 1.24445437027964e-05 FALSE NA ENSE00001125865_012 ENSE00001125865 012 17 4684034 4684203 + 50 81 39 G A 4684083 470 50 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAAGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780787 4780788 4780788 upstr_intron -1 0 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAAGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 46 229 0 0 0 NA NA NA NA NA 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.861432971369571 -0.841664378598603 NA NA 0.851548674984087 0.918258723965913 -0.851548674984087 NA NA NA TRUE 1 5.837 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA AGG G,A 8.237e-06 17:4780788 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 splice_acceptor_variant 3.217553 0.99115 0.97023 0.06567 0.977956804671238 0.970388 1.24445437027964e-05 FALSE NA ENSE00001125865_013 ENSE00001125865 013 17 4684034 4684203 + 50 81 39 G A 4684084 471 51 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGATACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780788 4780789 4780789 exon 1 0.0123456790123457 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGATACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 64 78 0.85 0.85 0.85 NA NA NA NA NA 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.0114329713695711 0.00833562140139688 NA NA 0.851548674984087 0.918258723965913 -0.00154867498408712 NA NA NA FALSE 1 2.925 rs145270928 downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs145270928 1 NA A:0.0002 A:0.0001 GGT G,A 0.0007742 17:4780789 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 0.39546 0.9661 0.779 0.446893 0.968807643326728 0 1.24445437027964e-05 FALSE 0.000907048 ENSE00001125865_014 ENSE00001125865 014 17 4684034 4684203 + 50 81 39 T C 4684085 472 52 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGCACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780789 4780790 4780790 exon 2 0.0246913580246914 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGCACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 146 198 0.85 0.85 0.85 468 518 0.806641181154928 0.800488016950985 0.803564599052957 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.0114329713695709 0.00833562140139688 -0.0860957494388097 -0.143292500387103 0.851548674984087 0.918258723965913 -0.00154867498408701 -0.114694124912956 0.113145449928869 FALSE FALSE 0.998 3.544 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA GTA T,C 1.647e-05 17:4780790 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 1.994557 0.98803 0.96063 0.446893 0.918426299816119 0 1.24445437027964e-05 FALSE NA ENSE00001125865_015 ENSE00001125865 015 17 4684034 4684203 + 50 81 39 T C 4684088 473 55 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACCGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780792 4780793 4780793 exon 5 0.0617283950617284 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACCGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 97 92 0.892055524210626 0.886882011278977 0.889468767744801 1247 474 0.979707265886955 0.945683425373312 0.962695345630133 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 0.030622552841055 0.0452176326803736 0.0869703352932167 0.0019029080352243 0.851548674984087 0.918258723965913 0.0379200927607143 0.0444366216642205 0.00651652890350624 FALSE FALSE 1 6.181 rs147217839 downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs147217839 1 NA C:0 C:0.0001 CTG T,C 8.237e-06 17:4780793 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 4.351087 0.98368 0.98478 0.446893 0.997897784390682 0 1.24445437027964e-05 FALSE 4.15358e-06 ENSE00001125865_016 ENSE00001125865 016 17 4684034 4684203 + 50 81 39 T G 4684090 474 57 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGGGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780794 4780795 4780795 exon 7 0.0864197530864197 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGGGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 114 129 0.85 0.85 0.85 471 209 0.790998763264616 0.8 0.795499381632308 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139699 -0.101738167329122 -0.143780517338087 0.851548674984087 0.918258723965913 -0.00154867498408701 -0.122759342333605 0.121210667349518 FALSE FALSE 1 6.181 rs149189880 downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs149189880 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GTG T,G 8.237e-06 17:4780795 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 3.933632 0.98888 0.987 0.446893 0.957884990968131 0 1.24445437027964e-05 FALSE 4.14587e-06 ENSE00001125865_017 ENSE00001125865 017 17 4684034 4684203 + 50 81 39 G A 4684091 475 58 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTATCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780795 4780796 4780796 exon 8 0.0987654320987654 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTATCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 453 956 0.88654374614484 0.870241779209453 0.878392762677147 169 94 0.921695767720684 0.845063739760908 0.883379753740796 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 0.0251107747752689 0.0285774006108502 0.0289588371269455 -0.098716777577179 0.851548674984087 0.918258723965913 0.0268440876930596 -0.0348789702251168 0.0617230579181763 FALSE FALSE 1 7.56 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA TGT G,A 8.237e-06 17:4780796 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 4.573788 0.99115 0.99069 0.446893 0.936752955458454 0 1.24445437027964e-05 FALSE NA ENSE00001125865_018 ENSE00001125865 018 17 4684034 4684203 + 50 81 39 C T 4684094 476 61 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCTGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780798 4780799 4780799 exon 11 0.135802469135802 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCTGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 118 169 0.866483771232866 0.85 0.858241885616433 NA NA NA NA NA 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 0.00505079986329493 0.00833562140139688 NA NA 0.851548674984087 0.918258723965913 0.0066932106323459 NA NA NA FALSE 1 6.013 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs374954745 1 NA T:0 T:0.0001 CCG C,T 3.295e-05 17:4780799 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 5.490492 0.98412 0.98059 0.446893 0.997840599549784 0 1.24445437027964e-05 FALSE 1.65567e-05 ENSE00001125865_019 ENSE00001125865 019 17 4684034 4684203 + 50 81 39 G A 4684095 477 62 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCAGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780799 4780800 4780800 exon 12 0.148148148148148 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCAGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 127 326 0.832540921808338 0.85 0.841270460904169 774 526 0.965012042784805 0.956235468718967 0.960623755751886 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.0288920495612327 0.00833562140139688 0.0722751121910666 0.01245495138088 0.851548674984087 0.918258723965913 -0.0102782140799179 0.0423650317859733 0.0526432458658913 FALSE FALSE 0 -6.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:4780800 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 synonymous_variant -0.046504 0.05089 0.00476 0.446893 0.819387237456207 0 1.24445437027964e-05 FALSE 0.433481 ENSE00001125865_020 ENSE00001125865 020 17 4684034 4684203 + 50 81 39 G C 4684095 478 62 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCCGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780799 4780800 4780800 exon 12 0.148148148148148 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCCGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 12 39 0.944079467603622 0.915768271689576 0.929923869646599 611 574 0.986306700152528 0.9710364176847 0.978671558918614 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 0.0826464962340513 0.0741038930909728 0.0935697695587897 0.0272559003466121 0.851548674984087 0.918258723965913 0.078375194662512 0.0604128349527009 0.0179623597098111 FALSE FALSE 0 -6.303 NA NA NA VMO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF5 NA NA NA ENSG00000142484 ENSE00003490946 synonymous_variant -0.288161 0.05577 0.00721 0.446893 0.670059694771327 0 1.24445437027964e-05 FALSE 4.15794e-06 ENSE00001125865_021 ENSE00001125865 021 17 4684034 4684203 + 50 81 39 C T 4684107 479 74 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCTGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780811 4780812 4780812 exon 24 0.296296296296296 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCTGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 143 321 0.881187994467948 0.85 0.865593997233974 1380 170 0.956494628121908 0.945152149689152 0.95082338890553 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 0.0197550230983766 0.00833562140139688 0.06375769752817 0.00137163235106419 0.851548674984087 0.918258723965913 0.0140453222498867 0.0325646649396171 0.0185193426897303 FALSE FALSE 0 -7.639 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 COSM178969 1 NA CCG C,T 4.942e-05 17:4780812 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 synonymous_variant 1.237699 0.09589 0.00539 0.446893 0.87054892826358 0 1.24445437027964e-05 FALSE 3.72147e-05 ENSE00001125865_022 ENSE00001125865 022 17 4684034 4684203 + 50 81 39 G A 4684108 480 75 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCATTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780812 4780813 4780813 exon 25 0.308641975308642 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCATTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 319 578 0.857981059425015 0.85 0.853990529712507 373 534 0.933444759756088 0.944762216747898 0.939103488251993 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.00345191194455607 0.00833562140139688 0.0407078291623502 0.000981699409810854 0.851548674984087 0.918258723965913 0.0024418547284204 0.0208447642860805 0.0184029095576601 FALSE FALSE 0.97 2.185 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs201854269 1 NA A:0.0005 A:0.0001 CGT G,A 0.00014 17:4780813 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 0.680059 0.96951 0.65859 0.446893 0.968664642109437 0 1.24445437027964e-05 FALSE 0.00013233 ENSE00001125865_023 ENSE00001125865 023 17 4684034 4684203 + 50 81 39 C T 4684111 481 78 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTTGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780815 4780816 4780816 exon 28 0.345679012345679 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTTGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 61 109 0.85 0.85 0.85 11 139 0.8 0.801038988005936 0.800519494002968 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 -0.0927369305937379 -0.142741529332151 0.851548674984087 0.918258723965913 -0.00154867498408706 -0.117739229962945 0.116190554978857 FALSE FALSE 1 3.298 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs369299757&COSM1176412 1 NA T:0 T:0.0001 TCG C,T 2.471e-05 17:4780816 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 5.165808 0.98282 0.91105 0.446893 0.999108889143739 0 1.24445437027964e-05 FALSE 2.06931e-05 ENSE00001125865_024 ENSE00001125865 024 17 4684034 4684203 + 50 81 39 G A 4684112 482 79 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCAGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780816 4780817 4780817 exon 29 0.358024691358025 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCAGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 26 57 0.85 0.85 0.85 249 1058 0.957489291622877 0.955358094356178 0.956423692989527 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139676 0.0647523610291385 0.0115775770180904 0.851548674984087 0.918258723965913 -0.00154867498408712 0.0381649690236144 0.0397136440077016 FALSE FALSE 1 4.687 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs200239930 1 NA CGG G,A 1.647e-05 17:4780817 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 3.554528 0.98486 0.94099 0.446893 0.971610501998313 0 1.24445437027964e-05 FALSE 6.21592e-05 ENSE00001125865_026 ENSE00001125865 026 17 4684034 4684203 + 50 81 39 G C 4684118 484 85 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGCGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780822 4780823 4780823 exon 35 0.432098765432099 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGCGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant NA NA NA NA NA 623 363 0.885031404597276 0.999564069439596 0.942297737018436 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 NA NA -0.00770552599646246 0.0557835521015089 0.851548674984087 0.918258723965913 NA 0.0240390130525232 NA FALSE NA 1 7.49 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA GGG G,C 0.0001977 17:4780823 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 3.384045 0.99156 0.9918 0.446893 0.997164398307249 0 1.24445437027964e-05 FALSE 0.000210984 ENSE00001125865_027 ENSE00001125865 027 17 4684034 4684203 + 50 81 39 G A 4684119 485 86 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGAGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780823 4780824 4780824 exon 36 0.444444444444444 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGAGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant NA NA NA NA NA 381 619 1 0.997305285625823 0.998652642812911 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 NA NA 0.107263069406262 0.0535247682877354 0.851548674984087 0.918258723965913 NA 0.0803939188469987 NA FALSE NA 0.847 -0.189 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA GGG G,A 8.236e-06 17:4780824 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 synonymous_variant 0.129545 0.97076 0.77061 0.446893 0.764255160307863 0 1.24445437027964e-05 FALSE 4.13698e-06 ENSE00001125865_028 ENSE00001125865 028 17 4684034 4684203 + 50 81 39 G A 4684121 486 88 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGACAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780825 4780826 4780826 exon 38 0.469135802469136 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGACAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant NA NA NA NA NA 122 384 1 0.997687479740007 0.998843739870004 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 NA NA 0.107263069406262 0.0539069624019199 0.851548674984087 0.918258723965913 NA 0.080585015904091 NA FALSE NA 1 5.77 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA GGC G,A 8.236e-06 17:4780826 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 3.259294 0.99113 0.94069 0.446893 0.993391658085046 0 1.24445437027964e-05 FALSE NA ENSE00001125865_029 ENSE00001125865 029 17 4684034 4684203 + 50 81 39 T G 4684129 487 96 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCGGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780833 4780834 4780834 exon -36 0.567901234567901 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCGGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 101 170 0.85 0.85 0.85 NA NA NA NA NA 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 NA NA 0.851548674984087 0.918258723965913 -0.00154867498408706 NA NA NA FALSE 1 4.48 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA CTG T,G 8.237e-06 17:4780834 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 4.576993 0.98887 0.97649 0.446893 0.976871085699977 0 1.24445437027964e-05 FALSE 4.12708e-06 ENSE00001125865_030 ENSE00001125865 030 17 4684034 4684203 + 50 81 39 G A 4684145 488 112 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTACTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780849 4780850 4780850 exon -20 0.765432098765432 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTACTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 237 340 0.85 0.85 0.85 1447 105 0.822263616266162 0.870560060270547 0.846411838268354 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 -0.0704733143275764 -0.0732204570675409 0.851548674984087 0.918258723965913 -0.00154867498408706 -0.0718468856975586 0.0702982107134716 FALSE FALSE 1 7.959 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs373479840 1 NA A:0.0002 A:0 TGC G,A 8.237e-06 17:4780850 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 4.311498 0.98747 0.99014 0.446893 0.995103666961735 0 1.24445437027964e-05 FALSE 8.22463e-06 ENSE00001125865_031 ENSE00001125865 031 17 4684034 4684203 + 50 81 39 C T 4684156 489 123 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACTGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780860 4780861 4780861 exon -9 0.901234567901235 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACTGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 366 283 0.85 0.85 0.85 163 76 0.853982557521507 0.935697743313297 0.894840150417402 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.0114329713695711 0.00833562140139688 -0.0387543730722307 -0.00808277402479007 0.851548674984087 0.918258723965913 -0.00154867498408712 -0.0234185735485104 0.0218698985644233 FALSE FALSE 1 4.584 rs185299933 downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 rs185299933 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 2.471e-05 17:4780861 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 8.12758 0.99396 0.98555 0.446893 0.999305249438133 0 1.24445437027964e-05 FALSE 1.23578e-05 ENSE00001125865_032 ENSE00001125865 032 17 4684034 4684203 + 50 81 39 G A 4684157 490 124 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCACTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780861 4780862 4780862 exon -8 0.91358024691358 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCACTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 130 154 0.85 0.85 0.85 57 653 0.805639177027342 0.733979761678419 0.76980946935288 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.011432971369571 0.00833562140139688 -0.0870977535663963 -0.209800755659669 0.851548674984087 0.918258723965913 -0.00154867498408706 -0.148449254613032 0.146900579628945 FALSE FALSE 1 5.023 . downstream_gene_variant MODIFIER VMO1 HGNC 30387 ENST00000441199 1 NA CGC G,A 4.942e-05 17:4780862 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 missense_variant 7.094147 0.98747 0.97395 0.446893 0.999457012759735 0 1.24445437027964e-05 FALSE 4.11967e-05 ENSE00001125865_034 ENSE00001125865 034 17 4684034 4684203 + 50 81 39 G A 4684169 492 136 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAAATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780873 4780874 4780874 downstr_intron 5 1.13157894736842 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAAATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 126 98 0.0104158182725002 0 0.00520790913625012 692 557 0.0917464098068817 0.00131500321775381 0.0465307065123178 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.851017153097071 -0.841664378598603 -0.800990520786856 -0.942465514120334 0.851548674984087 0.918258723965913 -0.846340765847837 -0.871728017453595 0.0253872516057581 TRUE TRUE 1 5.891 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:4780874 TM4SF5 HGNC Symbol protein_coding 11329 ENSG00000142484 ENSE00003490946 splice_region_variant 2.269906 0.9864 0.90148 0.06567 0.969183453090973 0.969819 1.24445437027964e-05 FALSE 1.64699e-05 ENSE00001125865_035 ENSE00001125865 035 17 4684034 4684203 + 50 81 39 G C 4684169 493 136 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAACATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 4780873 4780874 4780874 downstr_intron 5 1.13157894736842 GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAACATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG mutant 400 190 0 0 0 24 116 0 0 0 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.861432971369571 -0.841664378598603 -0.892736930593738 -0.943780517338087 0.851548674984087 0.918258723965913 -0.851548674984087 -0.918258723965913 0.0667100489818258 TRUE TRUE 1 5.891 NA NA NA VMO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF5 NA NA NA ENSG00000142484 ENSE00003490946 splice_region_variant 1.934612 0.98863 0.97722 0.06567 0.971365246688337 0.969819 1.24445437027964e-05 FALSE 2.05873e-05 ENSE00001125865_BRK ENSE00001125865 BRK 17 4684034 4684203 + 50 81 39 A,G; T,T NA NA NA GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACTTGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGCCAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG 4780738 4780908 NA NA NA NA NA NA GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACTTGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGCCAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG GCCTGGAGGATCTGGGGGGACGTGCTATAACAATGACTCTTGTCCCACAGGTACTGTGTCCGGGGATTGCAGCCGTTCGGGCAGGGGGCAAGGGCTGCTGTGGTGCTGGGTGCTGTGGAAACCGCTGCAGGGTAAGATCCAGATTAAGAAGGAATTCAGGGCTGGGGGTG control 64 104 0 0 0 NA NA NA NA NA 0.861432971369571 0.841664378598603 0.892736930593738 0.943780517338087 -0.861432971369571 -0.841664378598603 NA NA 0.851548674984087 0.918258723965913 -0.851548674984087 NA NA NA TRUE NA NA NA NA NA VMO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF5 NA NA NA ENSG00000142484 ENSE00003490946 NA NA NA NA NA NA NA 1.24445437027964e-05 FALSE NA ENSE00001126660_000 ENSE00001126660 000 11 7614319 7614488 + 44 93 33 NA NA NA NA NA TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 NA NA NA NA NA NA TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT natural NA NA NA NA NA 1338 2247 0.763614150975667 0.942832007556964 0.853223079266316 NA NA 0.763614150975667 0.942832007556964 NA NA 0 0 NA 0.853223079266316 NA 0 NA FALSE NA NA NA NA NA NA PPFIBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPFIBP2 NA NA NA ENSG00000166387 ENSE00003523268 NA NA NA NA NA NA NA 1.42290838281706e-18 FALSE NA ENSE00001126660_002 ENSE00001126660 002 11 7614319 7614488 + 44 93 33 T C 7614348 292 30 TTTCCAACCTTTTAAGTGTATTCTTTTTTCTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593116 7593117 7593117 upstr_intron -15 -0.318181818181818 TTTCCAACCTTTTAAGTGTATTCTTTTTTCTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 507 1603 0.984214303697106 0.998320620195051 0.991267461946078 NA NA 0.763614150975667 0.942832007556964 NA NA 0.220600152721439 0.0554886126380871 NA 0.853223079266316 NA 0.138044382679763 NA FALSE NA 0 0.02 rs73411183 upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 rs73411183 1 C:0.0178 C:0.0635 C:0.0072 NA C:0 C:0 C:0 C:0.0622 C:0.0007 TTT T,C 0.006021 11:7593117 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 intron_variant -0.501044 0.17986 0.02621 0 0.414352665890658 0.108108 1.42290838281706e-18 FALSE 0.00491552 ENSE00001126660_003 ENSE00001126660 003 11 7614319 7614488 + 44 93 33 C T 7614364 293 46 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTTCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593132 7593133 7593133 exon 2 0.021505376344086 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTTCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 12 1093 1 0.999365783827166 0.999682891913583 NA NA 0.763614150975667 0.942832007556964 NA NA 0.236385849024333 0.0565337762702023 NA 0.853223079266316 NA 0.146459812647268 NA FALSE NA 1 2.517 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 rs537418863 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCC C,T 8.236e-06 11:7593133 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 missense_variant 3.949581 0.91016 0.80892 0.615465 0.997209523602091 0 1.42290838281706e-18 FALSE 4.0665e-06 ENSE00001126660_004 ENSE00001126660 004 11 7614319 7614488 + 44 93 33 G A 7614396 294 78 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATAAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593164 7593165 7593165 exon 34 0.365591397849462 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATAAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 94 259 0.901220481297412 0.991974907298469 0.94659769429794 NA NA 0.763614150975667 0.942832007556964 NA NA 0.137606330321745 0.0491428997415045 NA 0.853223079266316 NA 0.0933746150316247 NA FALSE NA 1 9.494 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 1 NA TGA G,A 4.118e-05 11:7593165 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 missense_variant 6.041787 0.97117 0.96018 0.722319 0.99930435403637 0 1.42290838281706e-18 FALSE 3.24884e-05 ENSE00001126660_005 ENSE00001126660 005 11 7614319 7614488 + 44 93 33 C G 7614405 295 87 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACGAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593173 7593174 7593174 exon 43 0.462365591397849 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACGAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 78 399 1 0.998166928118987 0.999083464059494 NA NA 0.763614150975667 0.942832007556964 NA NA 0.236385849024333 0.0553349205620233 NA 0.853223079266316 NA 0.145860384793178 NA FALSE NA 1 7.534 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 1 NA CCA C,G 8.236e-06 11:7593174 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 missense_variant 5.709231 0.97172 0.95302 0.732398 0.993565598350866 0 1.42290838281706e-18 FALSE 4.06085e-06 ENSE00001126660_010 ENSE00001126660 010 11 7614319 7614488 + 44 93 33 T C 7614422 300 104 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGCCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593190 7593191 7593191 exon -34 0.645161290322581 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGCCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 102 28 1 1 1 NA NA 0.763614150975667 0.942832007556964 NA NA 0.236385849024333 0.0571679924430359 NA 0.853223079266316 NA 0.146776920733684 NA FALSE NA 0.432 -0.571 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 1 NA GTC T,C 1.647e-05 11:7593191 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 synonymous_variant 0.138576 0.8526 0.27908 0.732398 0.672491168953132 0 1.42290838281706e-18 FALSE 4.06105e-06 ENSE00001126660_011 ENSE00001126660 011 11 7614319 7614488 + 44 93 33 T C 7614424 301 106 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCCAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593192 7593193 7593193 exon -32 0.666666666666667 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCCAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 309 21 0.864507882773816 1 0.932253941386908 NA NA 0.763614150975667 0.942832007556964 NA NA 0.100893731798149 0.0571679924430359 NA 0.853223079266316 NA 0.0790308621205922 NA FALSE NA 1 7.748 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 1 NA CTA T,C 8.236e-06 11:7593193 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 missense_variant 6.382297 0.96358 0.93866 0.732398 0.999178399897368 0 1.42290838281706e-18 FALSE 4.06111e-06 ENSE00001126660_012 ENSE00001126660 012 11 7614319 7614488 + 44 93 33 G A 7614430 302 112 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGAGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593198 7593199 7593199 exon -26 0.731182795698925 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGAGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 44 1486 1 0.91070514614175 0.955352573070875 NA NA 0.763614150975667 0.942832007556964 NA NA 0.236385849024333 -0.0321268614152144 NA 0.853223079266316 NA 0.102129493804559 NA FALSE NA 1 9.494 rs148982716 upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 rs148982716 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0002 A:0 GGG G,A 5.765e-05 11:7593199 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 missense_variant 5.30215 0.97117 0.96018 0.732398 0.996093993984852 0 1.42290838281706e-18 FALSE 5.68874e-05 ENSE00001126660_014 ENSE00001126660 014 11 7614319 7614488 + 44 93 33 C A 7614442 304 124 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTACCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593210 7593211 7593211 exon -14 0.860215053763441 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTACCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 29 109 1 1 1 NA NA 0.763614150975667 0.942832007556964 NA NA 0.236385849024333 0.0571679924430359 NA 0.853223079266316 NA 0.146776920733684 NA FALSE NA 1 7.534 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 1 NA TCC C,A 4.118e-05 11:7593211 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 missense_variant 6.809521 0.97141 0.95121 0.732398 0.995939017028332 0 1.42290838281706e-18 FALSE 2.43738e-05 ENSE00001126660_015 ENSE00001126660 015 11 7614319 7614488 + 44 93 33 A C 7614447 305 129 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCCTATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593215 7593216 7593216 exon -9 0.913978494623656 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCCTATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 239 87 0.998439901362785 1 0.999219950681392 NA NA 0.763614150975667 0.942832007556964 NA NA 0.234825750387118 0.0571679924430359 NA 0.853223079266316 NA 0.145996871415077 NA FALSE NA 1 4.996 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 rs200057122 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CAT A,C 2.471e-05 11:7593216 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 missense_variant 6.122605 0.95137 0.8568 0.732398 0.983087326701898 0 1.42290838281706e-18 FALSE 5.6893e-05 ENSE00001126660_016 ENSE00001126660 016 11 7614319 7614488 + 44 93 33 C G 7614463 306 145 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTAGTTTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593231 7593232 7593232 downstr_intron 8 1.25 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTAGTTTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 209 2139 0.99741174334335 0.999729995015004 0.998570869179177 NA NA 0.763614150975667 0.942832007556964 NA NA 0.233797592367682 0.0568979874580399 NA 0.853223079266316 NA 0.145347789912861 NA FALSE NA 0 -0.79 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 rs201668182 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0.0002 G:0.0001 ACT C,G 3.295e-05 11:7593232 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 splice_region_variant 0.43911 0.22398 0.03989 0.106106 0.633964395044576 0.257998 1.42290838281706e-18 FALSE 2.44381e-05 ENSE00001126660_017 ENSE00001126660 017 11 7614319 7614488 + 44 93 33 T A 7614464 307 146 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACATTTTGGTGAGAATCGGCTTATCCT 7593087 7593257 7593232 7593233 7593233 downstr_intron 9 1.28125 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACATTTTGGTGAGAATCGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 60 205 1 1 1 NA NA 0.763614150975667 0.942832007556964 NA NA 0.236385849024333 0.0571679924430359 NA 0.853223079266316 NA 0.146776920733684 NA FALSE NA 0.018 0.659 . upstream_gene_variant MODIFIER PPFIBP2 HGNC 9250 ENST00000528883 1 NA CTT T,A 8.237e-06 11:7593233 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 intron_variant 0.606499 0.26064 0.06671 0.106106 0.753835298986053 0.182839 1.42290838281706e-18 FALSE 4.07927e-06 ENSE00001126660_019 ENSE00001126660 019 11 7614319 7614488 + 44 93 33 C T 7614478 309 160 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATTGGCTTATCCT 7593087 7593257 7593246 7593247 7593247 downstr_intron 23 1.71875 TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATTGGCTTATCCT TTTCCAACCTTTTAAGTGTATTCTTTTTTTTCTGTCCTCTTTAGTCCCAGGTAAACCACCACAGTGCTGCTAGTAATGAAACCTACCAGGAACGCTTGGCACGTCTAGAAGGGGATAAGGAGTCCCTCATATTGCAGGTGGGTACTTTTTGGTGAGAATCGGCTTATCCT mutant NA NA NA NA NA 1020 274 0.997742880731724 0.999860985930792 0.998801933331258 NA NA 0.763614150975667 0.942832007556964 NA NA 0.234128729756057 0.0570289783738278 NA 0.853223079266316 NA 0.145578854064943 NA FALSE NA 0 -0.193 NA NA NA PPFIBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:7593247 PPFIBP2 HGNC Symbol protein_coding 143829 ENSG00000166387 ENSE00003523268 intron_variant 0.579976 0.23149 0.09946 0.088506 0.709348846013793 0.105544 1.42290838281706e-18 FALSE 2.05249e-05 ENSE00001127375_000 ENSE00001127375 000 8 43048853 43049022 + 47 87 36 NA NA NA NA NA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 NA NA NA NA NA NA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA natural 21 70 0.959113018051022 0.923486474089609 0.941299746070315 3382 2328 0.920397197397668 0.78413434692499 0.852265772161329 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 0 0 0 0 0.941299746070315 0.852265772161329 0 0 0 FALSE FALSE NA NA NA NA NA HGSNAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HGSNAT NA NA NA ENSG00000165102 ENSE00001127375 NA NA NA NA NA NA NA 1.43961491298178e-06 FALSE NA ENSE00001127375_001 ENSE00001127375 001 8 43048853 43049022 + 47 87 36 C T 43048875 1166 23 TTTTCAGATCAGTGAGTGAGTGTTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193731 43193732 43193732 upstr_intron -25 -0.51063829787234 TTTTCAGATCAGTGAGTGAGTGTTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 401 2012 0.995664128422027 0.999430526677715 0.997547327549871 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0752669310243588 0.215296179752725 0.941299746070315 0.852265772161329 NA 0.145281555388542 NA FALSE NA 0 -0.417 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA GCT C,T 8.271e-06 8:43193732 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 intron_variant 0.095736 0.1518 0.01645 0.156188 0.537165831914658 0.120493 1.43961491298178e-06 FALSE NA ENSE00001127375_002 ENSE00001127375 002 8 43048853 43049022 + 47 87 36 C A 43048879 1167 27 TTTTCAGATCAGTGAGTGAGTGCTGCATTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193735 43193736 43193736 upstr_intron -21 -0.425531914893617 TTTTCAGATCAGTGAGTGAGTGCTGCATTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 68 621 0.956305661954978 0.993267266934853 0.974786464444916 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0359084645573098 0.209132920009863 0.941299746070315 0.852265772161329 NA 0.122520692283586 NA FALSE NA 0.002 1.31 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 rs373930673 1 NA A:0.0005 A:0 CCT C,A 1.654e-05 8:43193736 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 intron_variant 0.241413 0.20136 0.27655 0.156188 0.566156905208567 0.124307 1.43961491298178e-06 FALSE 1.23347e-05 ENSE00001127375_003 ENSE00001127375 003 8 43048853 43049022 + 47 87 36 T G 43048880 1168 28 TTTTCAGATCAGTGAGTGAGTGCTGCCGTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193736 43193737 43193737 upstr_intron -20 -0.404255319148936 TTTTCAGATCAGTGAGTGAGTGCTGCCGTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 409 31 0.811767637021756 1 0.905883818510878 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA -0.108629560375912 0.21586565307501 0.941299746070315 0.852265772161329 NA 0.053618046349549 NA FALSE NA 0 -0.47 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 rs376109017 1 NA G:0 G:0.0001 CTT T,G 9.925e-05 8:43193737 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 intron_variant -0.040081 0.16196 0.05281 0.156188 0.38653906685001 0.120843 1.43961491298178e-06 FALSE 9.44877e-05 ENSE00001127375_005 ENSE00001127375 005 8 43048853 43049022 + 47 87 36 A T 43048902 1170 50 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTTCTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193758 43193759 43193759 exon 3 0.0344827586206897 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTTCTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 895 1236 0.987090094462283 0.993883392283692 0.990486743372988 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.066692897064615 0.209749045358702 0.941299746070315 0.852265772161329 NA 0.138220971211659 NA FALSE NA 0.994 0.377 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA TAC G,T 8.273e-06 8:43193759 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 splice_region_variant -0.209438 0.90145 0.76501 0.706548 0.306434503737099 0 1.43961491298178e-06 FALSE 4.07027e-06 ENSE00001127375_006 ENSE00001127375 006 8 43048853 43049022 + 47 87 36 C T 43048909 1171 57 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACTACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193765 43193766 43193766 exon 10 0.114942528735632 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACTACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 197 1712 0.971350315908252 0.991483266703712 0.981416791305982 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0509531185105833 0.207348919778722 0.941299746070315 0.852265772161329 NA 0.129151019144653 NA FALSE NA 1 2.048 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA CCA C,T 8.273e-06 8:43193766 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 0.341279 0.95341 0.91756 0.706548 0.990069574210191 0 1.43961491298178e-06 FALSE 8.14173e-06 ENSE00001127375_007 ENSE00001127375 007 8 43048853 43049022 + 47 87 36 C T 43048914 1172 62 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACTGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193770 43193771 43193771 exon 15 0.172413793103448 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACTGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 237 2585 0.9401045780386 0.945611644417908 0.942858111228254 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0197073806409314 0.161477297492919 0.941299746070315 0.852265772161329 NA 0.0905923390669249 NA FALSE NA 0 -2.431 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 COSM3900357&COSM3900356 1 NA CCG C,T 1.655e-05 8:43193771 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 synonymous_variant 0.829024 0.0876 0.02148 0.706548 0.585277086426991 0 1.43961491298178e-06 FALSE 8.13054e-06 ENSE00001127375_008 ENSE00001127375 008 8 43048853 43049022 + 47 87 36 G A 43048915 1173 63 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCAAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193771 43193772 43193772 exon 16 0.183908045977011 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCAAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 564 773 0.947260155329754 0.906330715236112 0.926795435282933 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0268629579320855 0.122196368311122 0.941299746070315 0.852265772161329 NA 0.0745296631216035 NA FALSE NA 0 0.022 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA CGA G,A 8.273e-06 8:43193772 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 0.161651 0.23761 0.02958 0.706548 0.420552643191206 0 1.43961491298178e-06 FALSE 8.12599e-06 ENSE00001127375_009 ENSE00001127375 009 8 43048853 43049022 + 47 87 36 A G 43048925 1174 73 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTGTGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193781 43193782 43193782 exon 26 0.298850574712644 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTGTGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 24 471 1 1 1 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0796028026023315 0.21586565307501 0.941299746070315 0.852265772161329 NA 0.147734227838671 NA FALSE NA 0.999 2.29 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 rs370314091 1 NA G:0.0003 G:0 TAT A,G 1.655e-05 8:43193782 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 5.070038 0.97232 0.94361 0.706548 0.998039695408528 0 1.43961491298178e-06 FALSE 1.21847e-05 ENSE00001127375_010 ENSE00001127375 010 8 43048853 43049022 + 47 87 36 C T 43048932 1175 80 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCTGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193788 43193789 43193789 exon 33 0.379310344827586 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCTGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 167 325 0.863671527899485 0.991097905405282 0.927384716652384 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA -0.056725669498183 0.206963558480292 0.941299746070315 0.852265772161329 NA 0.0751189444910547 NA FALSE NA 0 -2.194 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA CCG C,T 8.274e-06 8:43193789 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 synonymous_variant 1.582229 0.94881 0.09075 0.706548 0.604551821328545 0 1.43961491298178e-06 FALSE 8.12288e-06 ENSE00001127375_011 ENSE00001127375 011 8 43048853 43049022 + 47 87 36 G A 43048933 1176 81 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCAAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193789 43193790 43193790 exon 34 0.390804597701149 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCAAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 24 41 0.81073980476995 0.8 0.805369902384975 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA -0.109657392627719 0.0158656530750101 0.941299746070315 0.852265772161329 NA -0.0468958697763543 NA FALSE NA 1 9.277 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 CM065257 1 NA CGA G,A 8.274e-06 8:43193790 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 6.777676 0.99004 0.99308 0.706548 0.999312712933336 0 1.43961491298178e-06 FALSE 1.62459e-05 ENSE00001127375_012 ENSE00001127375 012 8 43048853 43049022 + 47 87 36 C G 43048953 1177 101 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATGAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193809 43193810 43193810 exon -34 0.620689655172414 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATGAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 278 27 0.810957242701758 0.944236518841333 0.877596880771545 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA -0.10943995469591 0.160102171916343 0.941299746070315 0.852265772161329 NA 0.0253311086102162 NA FALSE NA 1 2.98 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA TCA C,G 8.275e-06 8:43193810 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 3.921839 0.98419 0.96128 0.706548 0.995502775162159 0 1.43961491298178e-06 FALSE 4.06121e-06 ENSE00001127375_014 ENSE00001127375 014 8 43048853 43049022 + 47 87 36 A G 43048955 1179 103 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAGCTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193811 43193812 43193812 exon -32 0.64367816091954 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAGCTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 123 16 0.978028925857551 0.957901476961459 0.967965201409505 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.057631728459883 0.173767130036469 0.941299746070315 0.852265772161329 NA 0.115699429248176 NA FALSE NA 1 5.803 NA NA NA HGSNAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:43193812 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 1.740592 0.97956 0.98001 0.706548 0.981767014398109 0 1.43961491298178e-06 FALSE 1.62456e-05 ENSE00001127375_015 ENSE00001127375 015 8 43048853 43049022 + 47 87 36 A G 43048960 1180 108 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCGTCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193816 43193817 43193817 exon -27 0.701149425287356 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCGTCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 1649 201 0.991278931618777 1 0.995639465809389 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0708817342211088 0.21586565307501 0.941299746070315 0.852265772161329 NA 0.143373693648059 NA FALSE NA 0.995 1.696 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA CAT A,G 8.276e-06 8:43193817 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 2.015923 0.97283 0.88701 0.706548 0.992476276563973 0 1.43961491298178e-06 FALSE 4.06134e-06 ENSE00001127375_016 ENSE00001127375 016 8 43048853 43049022 + 47 87 36 C T 43048962 1181 110 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATTGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193818 43193819 43193819 exon -25 0.724137931034483 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATTGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 63 643 0.77116097885784 0.803814748398277 0.787487863628058 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA -0.149236218539829 0.0196804014732874 0.941299746070315 0.852265772161329 NA -0.0647779085332708 NA FALSE NA 0.003 -1.302 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA TCG C,T 8.276e-06 8:43193819 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 synonymous_variant 2.249909 0.43608 0.03907 0.706548 0.741863442685706 0 1.43961491298178e-06 FALSE 8.12282e-06 ENSE00001127375_017 ENSE00001127375 017 8 43048853 43049022 + 47 87 36 G T 43048963 1182 111 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCTTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193819 43193820 43193820 exon -24 0.735632183908046 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCTTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 677 190 0.810893675191446 0.801329316656076 0.806111495923761 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA -0.109503522206223 0.0171949697310864 0.941299746070315 0.852265772161329 NA -0.0461542762375682 NA FALSE NA 0.432 0.906 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 CM090348 1 NA CGT G,T 8.276e-06 8:43193820 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 1.64074 0.70355 0.56502 0.706548 0.585485022027001 0 1.43961491298178e-06 FALSE 4.06154e-06 ENSE00001127375_018 ENSE00001127375 018 8 43048853 43049022 + 47 87 36 T A 43048964 1183 112 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGAGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193820 43193821 43193821 exon -23 0.747126436781609 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGAGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 539 1506 0.99935427744728 0.999391202058393 0.999372739752837 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.078957080049612 0.215256855133403 0.941299746070315 0.852265772161329 NA 0.147106967591508 NA FALSE NA 1 4.742 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA GTG T,A 8.276e-06 8:43193821 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 7.035937 0.98727 0.98128 0.706548 0.985908193753743 0 1.43961491298178e-06 FALSE NA ENSE00001127375_019 ENSE00001127375 019 8 43048853 43049022 + 47 87 36 G A 43048978 1184 126 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAAGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193834 43193835 43193835 exon -9 0.908045977011494 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAAGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 476 1886 0.941432666338061 0.944306705252877 0.942869685795469 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0210354689403923 0.160172358327887 0.941299746070315 0.852265772161329 NA 0.0906039136341394 NA FALSE NA 1 9.277 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA AGG G,A 8.276e-06 8:43193835 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 missense_variant 6.960296 0.99028 0.99308 0.706548 0.999335825955235 0 1.43961491298178e-06 FALSE 4.06256e-06 ENSE00001127375_020 ENSE00001127375 020 8 43048853 43049022 + 47 87 36 A G 43048980 1185 128 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGGGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193836 43193837 43193837 exon -7 0.931034482758621 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGGGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 478 123 0.00102431198079103 0.00714403545035156 0.00408417371557129 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA -0.919372885416877 -0.776990311474638 0.941299746070315 0.852265772161329 NA -0.848181598445758 NA TRUE NA 1 1.174 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA GAG A,G 8.276e-06 8:43193837 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 synonymous_variant 0.960895 0.96681 0.89485 0.706548 0.785009302987447 0 1.43961491298178e-06 FALSE 4.06352e-06 ENSE00001127375_021 ENSE00001127375 021 8 43048853 43049022 + 47 87 36 G A 43048987 1186 135 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGATATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 43193843 43193844 43193844 downstr_intron 1 1.02857142857143 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGATATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 2384 20 0 0.0625396763654405 0.0312698381827202 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA -0.920397197397668 -0.72159467055955 0.941299746070315 0.852265772161329 NA -0.820995933978609 NA TRUE NA 1 9.277 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 rs398124545&CS072215 1 NA GGT G,A 8.276e-06 8:43193844 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 splice_donor_variant 5.660594 0.99028 0.99308 0.295142 0.995513695339353 0.983738 1.43961491298178e-06 FALSE 8.12632e-06 ENSE00001127375_022 ENSE00001127375 022 8 43048853 43049022 + 47 87 36 T G 43049012 1187 160 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACGTTTTCTGACA 43193709 43193879 43193868 43193869 43193869 downstr_intron 26 1.74285714285714 TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACGTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA mutant NA NA NA NA NA 587 173 0.99119585630511 0.949762420254023 0.970479138279566 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 NA NA 0.0707986589074415 0.165628073329033 0.941299746070315 0.852265772161329 NA 0.118213366118237 NA FALSE NA 0.009 0.166 . downstream_gene_variant MODIFIER HGSNAT HGNC 26527 ENST00000522082 1 NA CTT T,G 8.277e-06 8:43193869 HGSNAT HGNC Symbol protein_coding 62400 ENSG00000165102 ENSE00001127375 non_coding_transcript_exon_variant 0.418464 0.17515 0.0396 0.163922 0.636128124139968 0.123323 1.43961491298178e-06 FALSE 4.09497e-06 ENSE00001127375_BRK ENSE00001127375 BRK 8 43048853 43049022 + 47 87 36 A,G; T,T NA NA NA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTATTGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGCCATTTGTTCATTTCATTAGGTTACTTTTTCTGACA 43193709 43193879 NA NA NA NA NA NA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTATTGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGCCATTTGTTCATTTCATTAGGTTACTTTTTCTGACA TTTTCAGATCAGTGAGTGAGTGCTGCCTTCTGCTTCTGTTTGTTAAGGTACTTTACCACACCGAGGTGGCCTATGACCCCGAGGGCATCCTGGGCACCATCAACTCCATCGTGATGGCCTTTTTAGGAGTTCAGGTATTTGTTCATTTCATTAGGTTACTTTTTCTGACA control 30 15 0 0 0 424 542 0.0123290639865666 0.0189355715070326 0.0156323177467996 0.959113018051022 0.923486474089609 0.920397197397668 0.78413434692499 -0.959113018051022 -0.923486474089609 -0.908068133411102 -0.765198775417957 0.941299746070315 0.852265772161329 -0.941299746070315 -0.83663345441453 0.104666291655786 TRUE TRUE NA NA NA NA NA HGSNAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HGSNAT NA NA NA ENSG00000165102 ENSE00001127375 NA NA NA NA NA NA NA 1.43961491298178e-06 FALSE NA ENSE00001127625_000 ENSE00001127625 000 1 40097130 40097299 - 38 84 48 NA NA NA NA NA AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 NA NA NA NA NA NA AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT natural 85 91 0.996386634663436 0.995063915540172 0.995725275101804 3083 3035 0.766245840245346 0.965102036187015 0.86567393821618 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 0 0 0 0 0.995725275101804 0.86567393821618 0 0 0 FALSE FALSE NA NA NA NA NA HEYL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HEYL NA NA NA ENSG00000163909 ENSE00001127625 NA NA NA NA NA NA NA 6.80881163426979e-07 FALSE NA ENSE00001127625_001 ENSE00001127625 001 1 40097130 40097299 - 38 84 48 T C 40097141 1378 159 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGGGGAAATACTGT 39631457 39631627 39631468 39631469 39631469 downstr_intron 27 1.72972972972973 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGGGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant 28 11 0.999700399209029 0.995902149317289 0.997801274263159 2711 2505 0.997680860665274 0.885743882337219 0.941712371501247 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 0.00331376454559362 0.000838233777117003 0.231435020419928 -0.0793581538497963 0.995725275101804 0.86567393821618 0.00207599916135531 0.0760384332850661 0.0739624341237108 FALSE FALSE 0.001 0.036 rs145971519 intron_variant MODIFIER HEYL HGNC 4882 ENST00000372852 3/4 rs145971519 1 C:0.0088 C:0.0015 C:0.0173 NA C:0 C:0.0239 C:0.0061 C:0.0059 C:0.0205 CTC T,C 0.015 1:39631469 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 intron_variant 0.511146 0.30816 0.10029 0.095506 0.781391527905211 0.0894964 6.80881163426979e-07 FALSE 0.0163153 ENSE00001127625_002 ENSE00001127625 002 1 40097130 40097299 - 38 84 48 C T 40097142 1379 158 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAAAGGAAATACTGT 39631457 39631627 39631469 39631470 39631470 downstr_intron 26 1.7027027027027 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAAAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant 32 35 0.999738990107847 1 0.999869495053923 262 2191 0.992227245901187 0.995814301388128 0.994020773644658 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 0.00335235544441126 0.0049360844598284 0.225981405655842 0.0307122652011131 0.995725275101804 0.86567393821618 0.00414421995211983 0.128346835428477 0.124202615476358 FALSE FALSE 0 -0.358 . intron_variant MODIFIER HEYL HGNC 4882 ENST00000372852 3/4 1 NA TCT C,T 8.236e-06 1:39631470 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 intron_variant 0.406572 0.10903 0.0063 0.095506 0.809558153072204 0.0894964 6.80881163426979e-07 FALSE 4.06131e-06 ENSE00001127625_003 ENSE00001127625 003 1 40097130 40097299 - 38 84 48 C T 40097146 1380 154 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTACTAGAGGAAATACTGT 39631457 39631627 39631473 39631474 39631474 downstr_intron 22 1.59459459459459 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTACTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant 30 22 0.99879987886252 0.979852728526136 0.989326303694328 553 1089 0.99525515850448 0.999474073338564 0.997364615921522 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 0.00241324419908462 -0.0152111870140356 0.229009318259134 0.0343720371515492 0.995725275101804 0.86567393821618 -0.00639897140747547 0.131690677705342 0.138089649112817 FALSE FALSE 0 0.003 . intron_variant MODIFIER HEYL HGNC 4882 ENST00000372852 3/4 1 NA GCA C,T 8.236e-06 1:39631474 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 intron_variant 0.690646 0.17673 0.05314 0.095506 0.785627483416261 0.0894964 6.80881163426979e-07 FALSE 4.06144e-06 ENSE00001127625_004 ENSE00001127625 004 1 40097130 40097299 - 38 84 48 C A 40097155 1381 145 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTTCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631482 39631483 39631483 downstr_intron 13 1.35135135135135 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTTCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 626 217 1 1 1 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.233754159754654 0.0348979638129848 0.995725275101804 0.86567393821618 NA 0.13432606178382 NA FALSE NA 0 -0.24 . intron_variant MODIFIER HEYL HGNC 4882 ENST00000372852 3/4 1 NA GCA C,A 1.647e-05 1:39631483 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 intron_variant 0.711696 0.25581 0.03598 0.095506 0.769700264329251 0.0706436 6.80881163426979e-07 FALSE 8.12176e-06 ENSE00001127625_005 ENSE00001127625 005 1 40097130 40097299 - 38 84 48 T C 40097158 1382 142 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACGTTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631485 39631486 39631486 downstr_intron 10 1.27027027027027 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACGTTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 216 476 1 1 1 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.233754159754654 0.0348979638129848 0.995725275101804 0.86567393821618 NA 0.13432606178382 NA FALSE NA 0 -0.304 . intron_variant MODIFIER HEYL HGNC 4882 ENST00000372852 3/4 1 NA ATG T,C 8.236e-06 1:39631486 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 intron_variant 0.287615 0.15594 0.0085 0.095506 0.562079614626911 0.0705793 6.80881163426979e-07 FALSE 4.06075e-06 ENSE00001127625_007 ENSE00001127625 007 1 40097130 40097299 - 38 84 48 C G 40097168 1384 132 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACACGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631495 39631496 39631496 exon -1 1 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACACGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant 157 123 0.155379106649591 0 0.0776895533247957 842 3074 0.00467374394234631 0.102475283715975 0.0535745138291605 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 -0.841007528013844 -0.995063915540172 -0.761572096302999 -0.86262675247104 0.995725275101804 0.86567393821618 -0.918035721777008 -0.81209942438702 0.105936297389988 TRUE TRUE 1 5.35 . missense_variant&splice_region_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 1 deleterious(0.02) probably_damaging(0.975) NA CCT C,G 1.647e-05 1:39631496 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 5.9265 0.9833 0.96709 0.646311 0.996895245006726 0 6.80881163426979e-07 FALSE 1.62429e-05 ENSE00001127625_008 ENSE00001127625 008 1 40097130 40097299 - 38 84 48 C T 40097176 1385 124 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTAAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631503 39631504 39631504 exon -9 0.904761904761905 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTAAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 118 5038 0.965948953008106 0.998527541615304 0.982238247311705 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.19970311276276 0.0334255054282891 0.995725275101804 0.86567393821618 NA 0.116564309095525 NA FALSE NA 1 7.061 . missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 1 deleterious(0.02) probably_damaging(0.931) NA TCA C,T 8.236e-06 1:39631504 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 7.283796 0.98925 0.97533 0.646311 0.999362218354505 0 6.80881163426979e-07 FALSE 4.06068e-06 ENSE00001127625_009 ENSE00001127625 009 1 40097130 40097299 - 38 84 48 C T 40097196 1386 104 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACACTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631523 39631524 39631524 exon -29 0.666666666666667 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACACTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant 12 11 0.993079165433906 0.998127837098018 0.995603501265962 118 1393 1 0.99733339055503 0.998666695277515 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 -0.00330746922952962 0.00306392155784607 0.233754159754654 0.0322313543680149 0.995725275101804 0.86567393821618 -0.000121773835841776 0.132992757061335 0.133114530897176 FALSE FALSE 1 5.387 rs143373894 missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 rs143373894 1 tolerated(0.06) benign(0.069) NA T:0.0005 T:0 GCG C,T 2.471e-05 1:39631524 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 5.358053 0.98324 0.94916 0.646311 0.9988264228535 0 6.80881163426979e-07 FALSE 1.21821e-05 ENSE00001127625_010 ENSE00001127625 010 1 40097130 40097299 - 38 84 48 G A 40097197 1387 103 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGATGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631524 39631525 39631525 exon -30 0.654761904761905 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGATGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 421 482 1 0.996704540929462 0.998352270464731 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.233754159754654 0.0316025047424469 0.995725275101804 0.86567393821618 NA 0.132678332248551 NA FALSE NA 1 2.901 . missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 1 deleterious(0.01) probably_damaging(0.965) NA CGT G,A 4.118e-05 1:39631525 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 7.476011 0.9813 0.89892 0.646311 0.999450656013007 0 6.80881163426979e-07 FALSE 3.65464e-05 ENSE00001127625_011 ENSE00001127625 011 1 40097130 40097299 - 38 84 48 G A 40097200 1388 100 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGTGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631527 39631528 39631528 exon -33 0.619047619047619 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGTGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant 10 18 0.992852198977482 1 0.996426099488741 NA NA NA NA NA 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 -0.00353443568595324 0.0049360844598284 NA NA 0.995725275101804 0.86567393821618 0.000700824386937582 NA NA NA FALSE 0.833 0.638 . stop_gained HIGH HEYL HGNC 4882 ENST00000372852 3/5 COSM376357 1 NA HC CGC G,A 2.471e-05 1:39631528 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 stop_gained 11.130682 0.97223 0.74224 0.646311 0.998066990609712 0 6.80881163426979e-07 FALSE 1.62431e-05 ENSE00001127625_013 ENSE00001127625 013 1 40097130 40097299 - 38 84 48 C T 40097226 1390 74 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCACATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631553 39631554 39631554 exon 26 0.30952380952381 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCACATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 203 358 1 1 1 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.233754159754654 0.0348979638129848 0.995725275101804 0.86567393821618 NA 0.13432606178382 NA FALSE NA 1 7.061 rs141413445 missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 rs141413445 1 deleterious(0.01) probably_damaging(1) NA T:0.0007 T:0 GCG C,T 3.295e-05 1:39631554 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 7.821267 0.98963 0.97583 0.646311 0.999572467879849 0 6.80881163426979e-07 FALSE 2.03052e-05 ENSE00001127625_014 ENSE00001127625 014 1 40097130 40097299 - 38 84 48 G A 40097227 1391 73 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACTGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631554 39631555 39631555 exon 25 0.297619047619048 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACTGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 226 202 1 0.970490860414967 0.985245430207484 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.233754159754654 0.00538882422795217 0.995725275101804 0.86567393821618 NA 0.119571491991303 NA FALSE NA 1 4.765 . missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 1 deleterious(0) probably_damaging(1) NA CGG G,A 2.471e-05 1:39631555 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 7.690644 0.98336 0.95422 0.646311 0.999460025216591 0 6.80881163426979e-07 FALSE 2.03036e-05 ENSE00001127625_015 ENSE00001127625 015 1 40097130 40097299 - 38 84 48 T A 40097229 1392 71 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGTCCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631556 39631557 39631557 exon 23 0.273809523809524 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGTCCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant 11 23 0.996527566648569 0.983769386965965 0.990148476807267 NA NA NA NA NA 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 0.000140931985133874 -0.0112945285742061 NA NA 0.995725275101804 0.86567393821618 -0.00557679829453611 NA NA NA FALSE 1 7.258 . missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 1 deleterious(0.01) probably_damaging(1) NA GTC T,A 8.236e-06 1:39631557 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 6.47297 0.98713 0.97721 0.646311 0.994364222551055 0 6.80881163426979e-07 FALSE 4.06062e-06 ENSE00001127625_016 ENSE00001127625 016 1 40097130 40097299 - 38 84 48 C T 40097232 1393 68 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCAAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631559 39631560 39631560 exon 20 0.238095238095238 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCAAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 171 503 1 0.999924304711343 0.999962152355671 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.233754159754654 0.0348222685243275 0.995725275101804 0.86567393821618 NA 0.134288214139491 NA FALSE NA 0.998 7.061 . missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 1 deleterious(0) probably_damaging(0.999) NA TCG C,T 8.236e-06 1:39631560 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 8.14591 0.99029 0.97505 0.646311 0.999370347760322 0 6.80881163426979e-07 FALSE 1.21821e-05 ENSE00001127625_017 ENSE00001127625 017 1 40097130 40097299 - 38 84 48 G A 40097233 1394 67 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTTGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631560 39631561 39631561 exon 19 0.226190476190476 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTTGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 169 145 0.939794708407212 1 0.969897354203606 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.173548868161867 0.0348979638129848 0.995725275101804 0.86567393821618 NA 0.104223415987426 NA FALSE NA 0.994 1.88 rs139786829 stop_gained HIGH HEYL HGNC 4882 ENST00000372852 3/5 rs139786829 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 HC CGA G,A 8.236e-06 1:39631561 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 stop_gained 12.223885 0.97213 0.89151 0.646311 0.996705360427934 0 6.80881163426979e-07 FALSE 8.12123e-06 ENSE00001127625_019 ENSE00001127625 019 1 40097130 40097299 - 38 84 48 C T 40097238 1396 62 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACAGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631565 39631566 39631566 exon 14 0.166666666666667 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACAGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 4078 221 0.998378457286263 0.973922126233244 0.986150291759754 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.232132617040918 0.00882009004622908 0.995725275101804 0.86567393821618 NA 0.120476353543573 NA FALSE NA 1 7.061 . missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 1 deleterious(0) probably_damaging(0.999) NA CCG C,T 8.236e-06 1:39631566 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 8.138679 0.99029 0.97523 0.646311 0.999453966983585 0 6.80881163426979e-07 FALSE 4.06095e-06 ENSE00001127625_020 ENSE00001127625 020 1 40097130 40097299 - 38 84 48 G A 40097239 1397 61 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAATGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631566 39631567 39631567 exon 13 0.154761904761905 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAATGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 996 1248 0.969501050837831 0.930949163538538 0.950225107188184 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.203255210592485 -0.0341528726484773 0.995725275101804 0.86567393821618 NA 0.084551168972004 NA FALSE NA 1 2.166 rs139605272 missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 rs139605272 1 deleterious(0) probably_damaging(1) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 CGT G,A 5.765e-05 1:39631567 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 7.807845 0.97685 0.90052 0.646311 0.999204582261207 0 6.80881163426979e-07 FALSE 5.68546e-05 ENSE00001127625_021 ENSE00001127625 021 1 40097130 40097299 - 38 84 48 T C 40097246 1398 54 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATGGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631573 39631574 39631574 exon 6 0.0714285714285714 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATGGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 775 139 0.996715093732699 1 0.998357546866349 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.230469253487353 0.0348979638129848 0.995725275101804 0.86567393821618 NA 0.132683608650169 NA FALSE NA 0.438 -0.099 . missense_variant MODERATE HEYL HGNC 4882 ENST00000372852 3/5 1 deleterious(0) probably_damaging(0.983) NA CTA T,C 1.647e-05 1:39631574 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 missense_variant 4.861498 0.96314 0.72284 0.646311 0.994640342377702 0 6.80881163426979e-07 FALSE 8.12189e-06 ENSE00001127625_022 ENSE00001127625 022 1 40097130 40097299 - 38 84 48 G T 40097249 1399 51 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATAATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631576 39631577 39631577 exon 3 0.0357142857142857 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATAATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant 18 34 1 0.997620491922901 0.998810245961451 NA NA NA NA NA 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 0.00361336533656442 0.00255657638272944 NA NA 0.995725275101804 0.86567393821618 0.00308497085964693 NA NA NA FALSE 1 2.891 . splice_region_variant&synonymous_variant LOW HEYL HGNC 4882 ENST00000372852 3/5 rs201520391 1 NA TGA G,T 8.236e-06 1:39631577 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 splice_region_variant 2.140769 0.97031 0.93026 0.646311 0.846042597589867 0 6.80881163426979e-07 FALSE 4.06128e-06 ENSE00001127625_023 ENSE00001127625 023 1 40097130 40097299 - 38 84 48 T C 40097263 1400 37 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCGTGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631590 39631591 39631591 upstr_intron -12 -0.229166666666667 AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCGTGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 557 990 1 1 1 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.233754159754654 0.0348979638129848 0.995725275101804 0.86567393821618 NA 0.13432606178382 NA FALSE NA 0 -4.661 rs149665255 intron_variant MODIFIER HEYL HGNC 4882 ENST00000372852 2/4 rs149665255 1 C:0.0008 C:0.003 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 ATG T,C 8.236e-05 1:39631591 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 intron_variant 0.490447 0.09679 0.00617 0.095506 0.557946484150597 0.0975053 6.80881163426979e-07 FALSE 0.000105632 ENSE00001127625_025 ENSE00001127625 025 1 40097130 40097299 - 38 84 48 T C 40097288 1402 12 AAACTGTGATGGCACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT 39631457 39631627 39631615 39631616 39631616 upstr_intron -37 -0.75 AAACTGTGATGGCACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT AAACTGTGATGACACACCTGTGAGTAACTTCTTGTCATGATTGTTTAGATCATAGAGAAACGGCGTCGAGACCGCATCAACAGTAGCCTTTCTGAATTGCGACGCTTGGTCCCCACTGCCTTTGAGAAACAGGTATGTGACATTGCTGATTGTGCTAGAGGAAATACTGT mutant NA NA NA NA NA 65 852 1 0.999641857299853 0.999820928649926 0.996386634663436 0.995063915540172 0.766245840245346 0.965102036187015 NA NA 0.233754159754654 0.0345398211128376 0.995725275101804 0.86567393821618 NA 0.134146990433746 NA FALSE NA 0 0.182 . intron_variant MODIFIER HEYL HGNC 4882 ENST00000372852 2/4 1 NA GTC T,C 1.647e-05 1:39631616 HEYL HGNC Symbol protein_coding 15792 ENSG00000163909 ENSE00001127625 intron_variant -0.012664 0.16847 0.04268 0.095506 0.250059953956782 0.12127 6.80881163426979e-07 FALSE 1.22617e-05 ENSE00001127968_000 ENSE00001127968 000 11 111915818 111915987 + 44 93 33 NA NA NA NA NA AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 NA NA NA NA NA NA AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT natural 110 81 0.979696720052784 0.992924938496678 0.986310829274731 2676 3032 0.892641440834879 0.946258453639097 0.919449947236988 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 0 0 0 0 0.986310829274731 0.919449947236988 0 0 0 FALSE FALSE NA NA NA NA NA DLAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DLAT NA NA NA ENSG00000150768 ENSE00003503313 NA NA NA NA NA NA NA 6.67603193149511e-06 FALSE NA ENSE00001127968_001 ENSE00001127968 001 11 111915818 111915987 + 44 93 33 G C 111915839 2421 22 AGATTGAATCACAGTTACTAACAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045114 112045115 112045115 upstr_intron -23 -0.5 AGATTGAATCACAGTTACTAACAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant 39 26 1 1 1 379 481 1 0.958490773864145 0.979245386932072 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 0.0203032799472157 0.00707506150332204 0.107358559165121 0.0122323202250477 0.986310829274731 0.919449947236988 0.0136891707252689 0.0597954396950846 0.0461062689698157 FALSE FALSE 0.031 0.967 . intron_variant MODIFIER DLAT HGNC 2896 ENST00000537636 6/11 1 NA AGA G,C 8.236e-06 11:112045115 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 intron_variant -0.168736 0.23856 0.29949 0.295142 0.510594821364763 0.105558 6.67603193149511e-06 FALSE 4.06349e-06 ENSE00001127968_002 ENSE00001127968 002 11 111915818 111915987 + 44 93 33 T C 111915846 2422 29 AGATTGAATCACAGTTACTAAGAGCTTTCTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045121 112045122 112045122 upstr_intron -16 -0.340909090909091 AGATTGAATCACAGTTACTAAGAGCTTTCTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 22 185 1 1 1 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.107358559165121 0.0537415463609029 0.986310829274731 0.919449947236988 NA 0.0805500527630121 NA FALSE NA 0 0.029 . intron_variant MODIFIER DLAT HGNC 2896 ENST00000537636 6/11 1 NA TTT T,C 2.471e-05 11:112045122 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 intron_variant 1.290004 0.24325 0.06984 0.295142 0.837552338993372 0.196838 6.67603193149511e-06 FALSE 2.43734e-05 ENSE00001127968_003 ENSE00001127968 003 11 111915818 111915987 + 44 93 33 C T 111915857 2423 40 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCTATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045132 112045133 112045133 upstr_intron -5 -0.0909090909090909 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCTATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant 14 13 0.998661155878315 0.99778625691577 0.998223706397042 776 157 0.9799307602912 0.998991320786228 0.989461040538714 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 0.0189644358255308 0.0048613184190921 0.0872893194563216 0.0527328671471313 0.986310829274731 0.919449947236988 0.0119128771223114 0.0700110933017264 0.058098216179415 FALSE FALSE 0 0.043 . splice_region_variant&intron_variant LOW DLAT HGNC 2896 ENST00000537636 6/11 1 NA CCA C,T 8.236e-06 11:112045133 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 splice_region_variant 1.617578 0.29377 0.12725 0.295142 0.816757651928247 0.196915 6.67603193149511e-06 FALSE 8.12315e-06 ENSE00001127968_004 ENSE00001127968 004 11 111915818 111915987 + 44 93 33 T A 111915859 2424 42 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCAAAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045134 112045135 112045135 upstr_intron -3 -0.0454545454545455 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCAAAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 370 421 0.997640581110815 0.999624156245281 0.998632368678048 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.104999140275937 0.053365702606184 0.986310829274731 0.919449947236988 NA 0.0791824214410604 NA FALSE NA 0.004 0.048 . splice_region_variant&intron_variant LOW DLAT HGNC 2896 ENST00000537636 6/11 1 NA ATA T,A 8.236e-06 11:112045135 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 splice_region_variant 1.461348 0.30247 0.43041 0.295142 0.843523462483158 0.278787 6.67603193149511e-06 FALSE 4.06141e-06 ENSE00001127968_005 ENSE00001127968 005 11 111915818 111915987 + 44 93 33 C T 111915866 2425 49 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCTGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045141 112045142 112045142 exon 5 0.0537634408602151 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCTGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 102 190 1 0.998331571749038 0.999165785874519 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.107358559165121 0.0520731181099404 0.986310829274731 0.919449947236988 NA 0.0797158386375309 NA FALSE NA 0.418 3.448 . missense_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 benign(0.003) NA CCG C,T 4.118e-05 11:112045142 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant 3.597293 0.97084 0.96465 0.706548 0.95794431469557 0 6.67603193149511e-06 FALSE 2.84296e-05 ENSE00001127968_006 ENSE00001127968 006 11 111915818 111915987 + 44 93 33 G A 111915867 2426 50 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCAGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045142 112045143 112045143 exon 6 0.0645161290322581 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCAGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 263 980 0.823203203685578 1 0.911601601842789 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA -0.069438237149301 0.0537415463609029 0.986310829274731 0.919449947236988 NA -0.00784834539419904 NA FALSE NA 0.261 0.003 . synonymous_variant LOW DLAT HGNC 2896 ENST00000537636 7/12 1 NA CGG A,A 8.236e-06 11:112045143 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 synonymous_variant 1.232341 0.84675 0.18005 0.706548 0.625151061329182 0 6.67603193149511e-06 FALSE 2.03074e-05 ENSE00001127968_007 ENSE00001127968 007 11 111915818 111915987 + 44 93 33 G A 111915868 2427 51 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGACAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045143 112045144 112045144 exon 7 0.0752688172043011 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGACAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 2040 207 1 0.997003090872732 0.998501545436366 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.107358559165121 0.0507446372336353 0.986310829274731 0.919449947236988 NA 0.0790515981993783 NA FALSE NA 1 4.753 . missense_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 benign(0.011) NA GGC G,A 8.236e-06 11:112045144 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant 2.089201 0.94926 0.95455 0.706548 0.957979782962374 0 6.67603193149511e-06 FALSE 4.06134e-06 ENSE00001127968_009 ENSE00001127968 009 11 111915818 111915987 + 44 93 33 C A 111915880 2429 63 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGACTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045155 112045156 112045156 exon 19 0.204301075268817 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGACTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 569 343 1 0.996484585016807 0.998242292508403 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.107358559165121 0.0502261313777098 0.986310829274731 0.919449947236988 NA 0.0787923452714156 NA FALSE NA 0.553 0.443 . missense_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 benign(0.003) NA GCC C,A 1.647e-05 11:112045156 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant 1.527072 0.90559 0.56383 0.706548 0.650980190033416 0 6.67603193149511e-06 FALSE 8.12249e-06 ENSE00001127968_010 ENSE00001127968 010 11 111915818 111915987 + 44 93 33 G C 111915889 2430 72 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACACGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045164 112045165 112045165 exon 28 0.301075268817204 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACACGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 95 176 1 1 1 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.107358559165121 0.0537415463609029 0.986310829274731 0.919449947236988 NA 0.0805500527630121 NA FALSE NA 0 0.053 . missense_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 benign(0.082) NA AGG G,C 1.647e-05 11:112045165 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant 1.619409 0.36545 0.44585 0.706548 0.914433608058353 0 6.67603193149511e-06 FALSE 8.12236e-06 ENSE00001127968_013 ENSE00001127968 013 11 111915818 111915987 + 44 93 33 G A 111915917 2433 100 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGATGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045192 112045193 112045193 exon -38 0.602150537634409 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGATGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant 12 10 1 1 1 NA NA NA NA NA 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 0.0203032799472157 0.00707506150332204 NA NA 0.986310829274731 0.919449947236988 0.0136891707252689 NA NA NA FALSE 1 7.43 . missense_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 benign(0.054) NA GGT G,A 1.647e-05 11:112045193 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant 4.882286 0.97787 0.98621 0.706548 0.986724046759008 0 6.67603193149511e-06 FALSE 2.84269e-05 ENSE00001127968_014 ENSE00001127968 014 11 111915818 111915987 + 44 93 33 A G 111915929 2434 112 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGGTATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045204 112045205 112045205 exon -26 0.731182795698925 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGGTATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 1157 5171 0.998784335625832 0.940987027304005 0.969885681464919 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.106142894790953 -0.00527142633509203 0.986310829274731 0.919449947236988 NA 0.0504357342279307 NA FALSE NA 1 8.73 . missense_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 probably_damaging(1) NA GAT A,G 8.236e-06 11:112045205 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant 4.876334 0.96103 0.98822 0.706548 0.997268418061044 0 6.67603193149511e-06 FALSE 4.06101e-06 ENSE00001127968_015 ENSE00001127968 015 11 111915818 111915987 + 44 93 33 A G 111915937 2435 120 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAGTCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045212 112045213 112045213 exon -18 0.817204301075269 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAGTCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 28 455 1 0.995351609226706 0.997675804613353 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.107358559165121 0.0490931555876091 0.986310829274731 0.919449947236988 NA 0.0782258573763652 NA FALSE NA 0.302 1.141 . missense_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 benign(0) NA AAT A,G 8.236e-06 11:112045213 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant -0.602062 0.92482 0.76091 0.706548 0.580579116370229 0 6.67603193149511e-06 FALSE 4.06101e-06 ENSE00001127968_016 ENSE00001127968 016 11 111915818 111915987 + 44 93 33 G T 111915941 2436 124 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCATCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045216 112045217 112045217 exon -14 0.860215053763441 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCATCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 275 79 1 1 1 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.107358559165121 0.0537415463609029 0.986310829274731 0.919449947236988 NA 0.0805500527630121 NA FALSE NA 1 7.409 rs138250156 missense_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 probably_damaging(0.969) NA AGC G,T 8.236e-06 11:112045217 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant 5.776076 0.96846 0.98454 0.706548 0.99575135712782 0 6.67603193149511e-06 FALSE 4.06151e-06 ENSE00001127968_017 ENSE00001127968 017 11 111915818 111915987 + 44 93 33 G A 111915953 2437 136 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCAGGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045228 112045229 112045229 exon -2 0.989247311827957 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCAGGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant 27 20 0.998180209931607 1 0.999090104965804 481 645 0.998189301152596 1 0.999094650576298 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 0.0184834898788228 0.00707506150332204 0.105547860317718 0.0537415463609029 0.986310829274731 0.919449947236988 0.0127792756910724 0.0796447033393102 0.0668654276482378 FALSE FALSE 1 3.302 . missense_variant&splice_region_variant MODERATE DLAT HGNC 2896 ENST00000537636 7/12 1 benign(0.002) NA CGG G,A 1.647e-05 11:112045229 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 missense_variant 3.159755 0.95029 0.91892 0.706548 0.986479354372552 0 6.67603193149511e-06 FALSE 2.43716e-05 ENSE00001127968_018 ENSE00001127968 018 11 111915818 111915987 + 44 93 33 G A 111915954 2438 137 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGAGTAAGAGAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045229 112045230 112045230 exon -1 1 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGAGTAAGAGAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 192 70 0.812326156149096 0.828056890597812 0.820191523373454 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA -0.0803152846857825 -0.118201563041286 0.986310829274731 0.919449947236988 NA -0.0992584238635341 NA FALSE NA 0.996 0.439 . splice_region_variant&synonymous_variant LOW DLAT HGNC 2896 ENST00000537636 7/12 1 NA GGG G,A 8.236e-06 11:112045230 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 splice_region_variant 0.298077 0.91858 0.65806 0.706548 0.627466321878483 0 6.67603193149511e-06 FALSE NA ENSE00001127968_019 ENSE00001127968 019 11 111915818 111915987 + 44 93 33 G A 111915961 2439 144 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAAAATTACCATCATCTGGAATCAGCTGT 112045093 112045263 112045236 112045237 112045237 downstr_intron 7 1.21875 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAAAATTACCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 1570 244 0.998728693178274 0.991269705445692 0.994999199311983 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.106087252343396 0.0450112518065946 0.986310829274731 0.919449947236988 NA 0.0755492520749952 NA FALSE NA 0.001 0.006 . splice_region_variant&intron_variant LOW DLAT HGNC 2896 ENST00000537636 7/11 1 NA AGA G,A 8.236e-06 11:112045237 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 splice_region_variant 0.424895 0.35898 0.17445 0.099367 0.68280752971138 0.167519 6.67603193149511e-06 FALSE 4.06237e-06 ENSE00001127968_020 ENSE00001127968 020 11 111915818 111915987 + 44 93 33 C T 111915967 2440 150 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTATCATCATCTGGAATCAGCTGT 112045093 112045263 112045242 112045243 112045243 downstr_intron 13 1.40625 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTATCATCATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 108 422 0.8945870417373 1 0.94729352086865 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.00194560090242168 0.0537415463609029 0.986310829274731 0.919449947236988 NA 0.0278435736316623 NA FALSE NA 0 -0.069 . intron_variant MODIFIER DLAT HGNC 2896 ENST00000537636 7/11 1 NA ACC C,T 5.765e-05 11:112045243 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 intron_variant 0.500129 0.29584 0.25314 0.099367 0.618060294206165 0.153095 6.67603193149511e-06 FALSE 7.31535e-05 ENSE00001127968_021 ENSE00001127968 021 11 111915818 111915987 + 44 93 33 C T 111915971 2441 154 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATTATCTGGAATCAGCTGT 112045093 112045263 112045246 112045247 112045247 downstr_intron 17 1.53125 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATTATCTGGAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 280 115 0.925780034170846 1 0.962890017085423 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.0331385933359677 0.0537415463609029 0.986310829274731 0.919449947236988 NA 0.0434400698484353 NA FALSE NA 0 -2.096 . intron_variant MODIFIER DLAT HGNC 2896 ENST00000537636 7/11 1 NA TCA C,T 3.295e-05 11:112045247 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 intron_variant 0.194909 0.25019 0.16135 0.099367 0.706914998838414 0.0694198 6.67603193149511e-06 FALSE 1.2199e-05 ENSE00001127968_022 ENSE00001127968 022 11 111915818 111915987 + 44 93 33 G A 111915977 2442 160 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGAAATCAGCTGT 112045093 112045263 112045252 112045253 112045253 downstr_intron 23 1.71875 AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGAAATCAGCTGT AGATTGAATCACAGTTACTAAGAGCTTTTTCTTTCCTCCCATAGGCTCCGGCAGCTGTTGTGCCTCCCACAGGTCCTGGAATGGCACCAGTTCCTACAGGTGTCTTCACAGATATCCCAATCAGCAACATTCGTCGGGTAAGAGAATTACCATCATCTGGAATCAGCTGT mutant NA NA NA NA NA 126 366 1 1 1 0.979696720052784 0.992924938496678 0.892641440834879 0.946258453639097 NA NA 0.107358559165121 0.0537415463609029 0.986310829274731 0.919449947236988 NA 0.0805500527630121 NA FALSE NA 0 -0.001 . intron_variant MODIFIER DLAT HGNC 2896 ENST00000537636 7/11 1 NA GGA G,A 8.236e-06 11:112045253 DLAT HGNC Symbol protein_coding 39576 ENSG00000150768 ENSE00003503313 intron_variant 0.260443 0.21455 0.12716 0.099367 0.661719354934649 0.0694835 6.67603193149511e-06 FALSE 4.07671e-06 ENSE00001128940_000 ENSE00001128940 000 8 40625125 40625294 - 35 90 45 NA NA NA NA NA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 NA NA NA NA NA NA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA natural 15 44 0.994716280353213 0.994865292885297 0.994790786619255 3111 3774 0.993755282242957 0.873975570814129 0.933865426528543 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 0 0 0 0 0.994790786619255 0.933865426528543 0 0 0 FALSE FALSE NA NA NA NA NA ZMAT4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMAT4 NA NA NA ENSG00000165061 ENSE00003482523 NA NA NA NA NA NA NA 0.0193268627627965 FALSE NA ENSE00001128940_001 ENSE00001128940 001 8 40625125 40625294 - 35 90 45 G A 40625142 860 153 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCATGTGATATCCTCAGATGA 40767605 40767775 40767622 40767623 40767623 downstr_intron 18 1.52941176470588 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCATGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 922 3234 0.941105827635238 0.999456841676557 0.970281334655897 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA -0.052649454607719 0.125481270862429 0.994790786619255 0.933865426528543 NA 0.0364159081273548 NA FALSE NA 0 -1.111 . intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/4 1 NA CGT G,A 8.237e-06 8:40767623 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant -0.120724 0.1742 0.00701 0.074388 0.372045252916961 0.109481 0.0193268627627965 FALSE 2.08862e-05 ENSE00001128940_002 ENSE00001128940 002 8 40625125 40625294 - 35 90 45 G A 40625145 861 150 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTATCACGTGATATCCTCAGATGA 40767605 40767775 40767625 40767626 40767626 downstr_intron 15 1.44117647058824 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTATCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 1821 482 0.850659486390804 1 0.925329743195402 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA -0.143095795852153 0.126024429185871 0.994790786619255 0.933865426528543 NA -0.00853568333314086 NA FALSE NA 0.161 1.889 . intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/4 1 NA GGT G,A 3.295e-05 8:40767626 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant 0.329922 0.5079 0.22298 0.074388 0.489259388155304 0.933283 0.0193268627627965 FALSE 2.48542e-05 ENSE00001128940_003 ENSE00001128940 003 8 40625125 40625294 - 35 90 45 G A 40625151 862 144 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATTTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767631 40767632 40767632 downstr_intron 9 1.26470588235294 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATTTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 745 154 0.998945696550256 1 0.999472848275128 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00519041430729927 0.126024429185871 0.994790786619255 0.933865426528543 NA 0.0656074217465853 NA FALSE NA 0.004 0.257 . intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/4 1 NA AGA G,A 8.237e-06 8:40767632 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant 0.747646 0.22168 0.02969 0.074388 0.657871568465339 0.290541 0.0193268627627965 FALSE 4.12086e-06 ENSE00001128940_004 ENSE00001128940 004 8 40625125 40625294 - 35 90 45 A T 40625160 863 135 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAAAGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767640 40767641 40767641 exon -1 1 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAAAGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 1182 375 0.8107387012249 1 0.90536935061245 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA -0.183016581018057 0.126024429185871 0.994790786619255 0.933865426528543 NA -0.0284960759160928 NA FALSE NA 0.029 -0.335 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW ZMAT4 HGNC 25844 ENST00000523542 4/5 1 NA CAT A,T 8.237e-06 8:40767641 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 missense_variant 0.779246 0.93348 0.30088 0.643511 0.710369511554645 0 0.0193268627627965 FALSE 1.64175e-05 ENSE00001128940_005 ENSE00001128940 005 8 40625125 40625294 - 35 90 45 C A 40625169 864 126 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGTTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767649 40767650 40767650 exon -10 0.9 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGTTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 140 648 0.993763868109017 0.996825318334886 0.995294593221951 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 8.58586606000689e-06 0.122849747520758 0.994790786619255 0.933865426528543 NA 0.0614291666934088 NA FALSE NA 0.002 -1.336 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 1 NA ACC C,A 8.237e-06 8:40767650 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 synonymous_variant 2.298936 0.79435 0.10319 0.643511 0.707294914641159 0 0.0193268627627965 FALSE 4.09339e-06 ENSE00001128940_006 ENSE00001128940 006 8 40625125 40625294 - 35 90 45 C T 40625170 865 125 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCAGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767650 40767651 40767651 exon -11 0.888888888888889 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCAGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 49 100 1 0.997290733759527 0.998645366879763 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00624471775704327 0.123315162945398 0.994790786619255 0.933865426528543 NA 0.0647799403512206 NA FALSE NA 1 6.879 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 COSM3900139 1 NA CCG C,T 8.237e-06 8:40767651 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 missense_variant 6.690775 0.99431 0.9786 0.643511 0.999410694309296 0 0.0193268627627965 FALSE NA ENSE00001128940_007 ENSE00001128940 007 8 40625125 40625294 - 35 90 45 C G 40625176 866 119 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGACGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767656 40767657 40767657 exon -17 0.822222222222222 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGACGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 2993 283 0.996687969685571 0.999865410607584 0.998276690146578 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00293268744261421 0.125889839793456 0.994790786619255 0.933865426528543 NA 0.0644112636180349 NA FALSE NA 1 4.251 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 1 NA CCT C,G 8.236e-06 8:40767657 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 missense_variant 4.197094 0.98591 0.92314 0.643511 0.961936977409927 0 0.0193268627627965 FALSE 4.08647e-06 ENSE00001128940_008 ENSE00001128940 008 8 40625125 40625294 - 35 90 45 C T 40625190 867 105 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGATGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767670 40767671 40767671 exon -31 0.666666666666667 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGATGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 536 435 0.994099093968158 1 0.997049546984079 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.000343811725201038 0.126024429185871 0.994790786619255 0.933865426528543 NA 0.0631841204555362 NA FALSE NA 0.998 0.213 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 1 NA ACC C,T 1.647e-05 8:40767671 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 synonymous_variant 2.164931 0.96556 0.61003 0.643511 0.677925843100574 0 0.0193268627627965 FALSE 8.17621e-06 ENSE00001128940_009 ENSE00001128940 009 8 40625125 40625294 - 35 90 45 T A 40625193 868 102 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGTGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767673 40767674 40767674 exon -34 0.633333333333333 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGTGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 567 77 0.999927396655992 0.967816914537271 0.983872155596632 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00617211441303545 0.0938413437231426 0.994790786619255 0.933865426528543 NA 0.050006729068089 NA FALSE NA 0.889 -0.067 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 1 NA CTC T,A 8.236e-06 8:40767674 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 synonymous_variant 0.476941 0.70494 0.26121 0.643511 0.705761117134517 0 0.0193268627627965 FALSE 4.08507e-06 ENSE00001128940_010 ENSE00001128940 010 8 40625125 40625294 - 35 90 45 G C 40625210 869 85 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGGTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767690 40767691 40767691 exon 40 0.444444444444444 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGGTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 214 1360 0.996287892605808 0.992845321103241 0.994566606854525 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00253261036285113 0.118869750289113 0.994790786619255 0.933865426528543 NA 0.0607011803259819 NA FALSE NA 1 6.89 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 rs377637322 1 NA C:0 C:0.0001 AGC G,C 1.647e-05 8:40767691 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 missense_variant 4.456041 0.98724 0.97107 0.706298 0.998170652604363 0 0.0193268627627965 FALSE 8.15468e-06 ENSE00001128940_012 ENSE00001128940 012 8 40625125 40625294 - 35 90 45 G A 40625222 871 73 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGATTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767702 40767703 40767703 exon 28 0.311111111111111 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGATTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 407 337 0.990764905167214 0.994864815773232 0.992814860470223 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA -0.00299037707574268 0.120889244959104 0.994790786619255 0.933865426528543 NA 0.0589494339416805 NA FALSE NA 1 4.003 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 rs375155082 1 A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 A:0.0011 A:0 AGT G,A 7.413e-05 8:40767703 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 synonymous_variant 1.25704 0.98656 0.9332 0.706298 0.814413734053381 0 0.0193268627627965 FALSE 4.50366e-05 ENSE00001128940_013 ENSE00001128940 013 8 40625125 40625294 - 35 90 45 T A 40625223 872 72 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGTCTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767703 40767704 40767704 exon 27 0.3 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGTCTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 252 99 0.991186266624195 0.998399125770752 0.994792696197473 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA -0.0025690156187621 0.124423554956624 0.994790786619255 0.933865426528543 NA 0.0609272696689308 NA FALSE NA 0.989 0.061 rs74351569 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 rs74351569 1 A:0.0104 A:0.0386 A:0.0014 NA A:0 A:0 A:0 A:0.0277 A:0 GTC T,A 0.002487 8:40767704 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 synonymous_variant 1.352649 0.96429 0.67644 0.706298 0.673122143810477 0 0.0193268627627965 FALSE 0.0018591 ENSE00001128940_014 ENSE00001128940 014 8 40625125 40625294 - 35 90 45 G T 40625226 873 69 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTACGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767706 40767707 40767707 exon 24 0.266666666666667 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTACGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 163 1041 0.999747251717809 0.998300402656602 0.999023827187206 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00599196947485237 0.124324831842474 0.994790786619255 0.933865426528543 NA 0.0651584006586631 NA FALSE NA 1 1.464 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 rs202047731 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0003 GGA G,T 0.0002059 8:40767707 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 synonymous_variant 1.0924 0.97549 0.78602 0.706298 0.786351238032935 0 0.0193268627627965 FALSE 0.000122854 ENSE00001128940_015 ENSE00001128940 015 8 40625125 40625294 - 35 90 45 T C 40625230 874 65 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAGAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767710 40767711 40767711 exon 20 0.222222222222222 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAGAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 324 717 1 1 1 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00624471775704327 0.126024429185871 0.994790786619255 0.933865426528543 NA 0.0661345734714573 NA FALSE NA 1 7.071 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 1 NA TTT T,C 7.413e-05 8:40767711 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 missense_variant 6.184501 0.98942 0.96256 0.706298 0.998560166289847 0 0.0193268627627965 FALSE 6.55367e-05 ENSE00001128940_016 ENSE00001128940 016 8 40625125 40625294 - 35 90 45 G A 40625246 875 49 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTTGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767726 40767727 40767727 exon 4 0.0444444444444444 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTTGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 43 29 1 0.8 0.9 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00624471775704327 -0.0739755708141286 0.994790786619255 0.933865426528543 NA -0.0338654265285427 NA FALSE NA 1 8.715 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 4/5 rs548272091 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGA G,A 1.647e-05 8:40767727 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 stop_gained 12.642858 0.99196 0.97985 0.706298 0.998155574321079 0 0.0193268627627965 FALSE 8.22551e-06 ENSE00001128940_017 ENSE00001128940 017 8 40625125 40625294 - 35 90 45 G A 40625254 876 41 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTTCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767734 40767735 40767735 upstr_intron -5 -0.0888888888888889 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTTCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 185 2654 0.989052084501164 0.99803410090919 0.993543092705177 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA -0.0047031977417924 0.124058530095062 0.994790786619255 0.933865426528543 NA 0.0596776661766346 NA FALSE NA 0 0.473 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ZMAT4 HGNC 25844 ENST00000523542 3/4 1 NA GGA G,A 1.647e-05 8:40767735 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 splice_region_variant 1.508328 0.94265 0.12442 0.078448 0.656702072607288 0.384216 0.0193268627627965 FALSE 2.06618e-05 ENSE00001128940_018 ENSE00001128940 018 8 40625125 40625294 - 35 90 45 A C 40625256 877 39 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCGTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767736 40767737 40767737 upstr_intron -7 -0.133333333333333 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCGTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 430 100 1 0.998415168080311 0.999207584040156 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00624471775704327 0.124439597266183 0.994790786619255 0.933865426528543 NA 0.065342157511613 NA FALSE NA 0.004 3.464 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ZMAT4 HGNC 25844 ENST00000523542 3/4 1 NA AAG A,C 8.237e-06 8:40767737 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 splice_region_variant 1.428645 0.9695 0.3907 0.074388 0.914558368345607 0.388408 0.0193268627627965 FALSE 4.15258e-06 ENSE00001128940_019 ENSE00001128940 019 8 40625125 40625294 - 35 90 45 G A 40625257 878 38 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCTTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767737 40767738 40767738 upstr_intron -8 -0.155555555555556 AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCTTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 2365 180 0.998350373535452 0.9997882932286 0.999069333382026 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00459509129249536 0.125812722414471 0.994790786619255 0.933865426528543 NA 0.0652039068534833 NA FALSE NA 0 0.49 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ZMAT4 HGNC 25844 ENST00000523542 3/4 1 NA AGG G,A 8.237e-06 8:40767738 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 splice_region_variant 1.591654 0.92117 0.11475 0.074388 0.700218796269283 0.388408 0.0193268627627965 FALSE 4.15317e-06 ENSE00001128940_020 ENSE00001128940 020 8 40625125 40625294 - 35 90 45 A C 40625262 879 33 AATGGCTTATCTTTTACAGTATCTGCTTATGCGTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767742 40767743 40767743 upstr_intron -13 -0.266666666666667 AATGGCTTATCTTTTACAGTATCTGCTTATGCGTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 277 332 1 1 1 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00624471775704327 0.126024429185871 0.994790786619255 0.933865426528543 NA 0.0661345734714573 NA FALSE NA 0.893 3.298 . intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 3/4 1 NA AAG A,C 4.119e-05 8:40767743 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant 1.351507 0.86664 0.85966 0.074388 0.841235193983705 0.378007 0.0193268627627965 FALSE 2.51336e-05 ENSE00001128940_021 ENSE00001128940 021 8 40625125 40625294 - 35 90 45 A T 40625267 880 28 AATGGCTTATCTTTTACAGTATCTGCTAATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767747 40767748 40767748 upstr_intron -18 -0.377777777777778 AATGGCTTATCTTTTACAGTATCTGCTAATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 284 499 1 1 1 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00624471775704327 0.126024429185871 0.994790786619255 0.933865426528543 NA 0.0661345734714573 NA FALSE NA 0.003 0.948 . intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 3/4 1 NA TAA A,T 1.648e-05 8:40767748 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant 0.991543 0.25013 0.09961 0.074388 0.811298718633877 0.206104 0.0193268627627965 FALSE 8.58819e-06 ENSE00001128940_022 ENSE00001128940 022 8 40625125 40625294 - 35 90 45 A G 40625268 881 27 AATGGCTTATCTTTTACAGTATCTGCCTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767748 40767749 40767749 upstr_intron -19 -0.4 AATGGCTTATCTTTTACAGTATCTGCCTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 613 49 0.999123968584369 1 0.999561984292185 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00536868634141252 0.126024429185871 0.994790786619255 0.933865426528543 NA 0.0656965577636419 NA FALSE NA 0.002 2.334 . intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 3/4 1 NA AAG A,G 8.238e-06 8:40767749 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant 1.332295 0.37927 0.19635 0.074388 0.826760353365548 0.699934 0.0193268627627965 FALSE NA ENSE00001128940_023 ENSE00001128940 023 8 40625125 40625294 - 35 90 45 G A 40625269 882 26 AATGGCTTATCTTTTACAGTATCTGTTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767749 40767750 40767750 upstr_intron -20 -0.422222222222222 AATGGCTTATCTTTTACAGTATCTGTTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 295 991 0.983003920072621 0.998644485074334 0.990824202573477 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA -0.0107513621703353 0.124668914260205 0.994790786619255 0.933865426528543 NA 0.0569587760449348 NA FALSE NA 0 0.176 . intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 3/4 1 NA AGC G,A 8.238e-06 8:40767750 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant 1.03038 0.21609 0.02307 0.074388 0.76085206479666 0.206104 0.0193268627627965 FALSE 4.32904e-06 ENSE00001128940_024 ENSE00001128940 024 8 40625125 40625294 - 35 90 45 T C 40625274 883 21 AATGGCTTATCTTTTACAGTGTCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767754 40767755 40767755 upstr_intron -25 -0.533333333333333 AATGGCTTATCTTTTACAGTGTCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 53 497 0.8 0.957518294061048 0.878759147030524 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA -0.193755282242957 0.0835427232469194 0.994790786619255 0.933865426528543 NA -0.0551062794980187 NA FALSE NA 0 -2.79 . intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 3/4 1 NA ATA T,C 8.238e-06 8:40767755 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant 0.598992 0.08308 0.0128 0.074388 0.503180832089068 0.19026 0.0193268627627965 FALSE NA ENSE00001128940_025 ENSE00001128940 025 8 40625125 40625294 - 35 90 45 A G 40625283 884 12 AATGGCTTATCCTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 40767763 40767764 40767764 upstr_intron -34 -0.733333333333333 AATGGCTTATCCTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA mutant NA NA NA NA NA 430 500 1 0.971741039727772 0.985870519863886 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 NA NA 0.00624471775704327 0.0977654689136433 0.994790786619255 0.933865426528543 NA 0.0520050933353433 NA FALSE NA 0 1.631 rs184002037 intron_variant&NMD_transcript_variant MODIFIER ZMAT4 HGNC 25844 ENST00000523542 3/4 rs184002037 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAG A,G 8.239e-06 8:40767764 ZMAT4 HGNC Symbol protein_coding 367243 ENSG00000165061 ENSE00003482523 intron_variant 0.260312 0.20593 0.12714 0.074388 0.663056410333627 0.0813926 0.0193268627627965 FALSE 4.71187e-06 ENSE00001128940_BRK ENSE00001128940 BRK 8 40625125 40625294 - 35 90 45 A,G; T,T NA NA NA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCTTAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATCCGAGTATCTGGTACCACGTGATATCCTCAGATGA 40767605 40767775 NA NA NA NA NA NA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCTTAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATCCGAGTATCTGGTACCACGTGATATCCTCAGATGA AATGGCTTATCTTTTACAGTATCTGCTTATGCTTTTCCTTCCCAGAGTCGAAAACATGCAAGCAAAGTCCGACTGTATTACATGCTTCACCCCAGGGATGGAGGGTGTCCTGCCAAGAGGCTCCGGTCAGAAAATGTGAGTATCTGGTACCACGTGATATCCTCAGATGA control 178 17 0.00738238055990917 0 0.00369119027995458 236 1505 0 0.000335902694621962 0.000167951347310981 0.994716280353213 0.994865292885297 0.993755282242957 0.873975570814129 -0.987333899793304 -0.994865292885297 -0.993755282242957 -0.873639668119507 0.994790786619255 0.933865426528543 -0.991099596339301 -0.933697475181232 0.0574021211580689 TRUE TRUE NA NA NA NA NA ZMAT4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMAT4 NA NA NA ENSG00000165061 ENSE00003482523 NA NA NA NA NA NA NA 0.0193268627627965 FALSE NA ENSE00001129810_000 ENSE00001129810 000 3 51126605 51126774 + 69 42 59 NA NA NA NA NA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 NA NA NA NA NA NA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA natural 259 423 0.85 0.829105844056375 0.839552922028187 2722 4367 0.869058382699319 0.793467690929322 0.831263036814321 0.85 0.829105844056375 0.869058382699319 0.793467690929322 0 0 0 0 0.839552922028187 0.831263036814321 0 0 0 FALSE FALSE NA NA NA NA NA DOCK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK3 NA NA NA ENSG00000088538 ENSE00001129810 NA NA NA NA NA NA NA 0.999999698562023 TRUE NA ENSE00001129810_002 ENSE00001129810 002 3 51126605 51126774 + 69 42 59 G A 51126640 1375 36 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCAGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089208 51089209 51089209 upstr_intron -34 -0.478260869565217 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCAGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 2444 1829 0.912176565422733 0.970033600115807 0.94110508276927 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA 0.0431181827234138 0.176565909186485 0.839552922028187 0.831263036814321 NA 0.109842045954949 NA FALSE NA 0 0.366 . intron_variant MODIFIER DOCK3 HGNC 2989 ENST00000266037 7/52 1 NA CGG G 1.659e-05 3:51089209 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 intron_variant -0.091407 0.07717 0.00166 0.053691 0.471911554799701 0.0666035 0.999999698562023 TRUE 4.53469e-05 ENSE00001129810_003 ENSE00001129810 003 3 51126605 51126774 + 69 42 59 A G 51126670 1376 66 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCGTAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089238 51089239 51089239 upstr_intron -4 -0.0434782608695652 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCGTAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 581 779 0.876380844718818 0.813950872557033 0.845165858637926 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA 0.00732246201949938 0.020483181627711 0.839552922028187 0.831263036814321 NA 0.0139028218236052 NA FALSE NA 0.095 0.502 . splice_region_variant&intron_variant LOW DOCK3 HGNC 2989 ENST00000266037 7/52 1 NA CAT A 8.28e-06 3:51089239 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 splice_region_variant 1.515882 0.27747 0.13221 0.053691 0.71271044001297 0.218377 0.999999698562023 TRUE NA ENSE00001129810_004 ENSE00001129810 004 3 51126605 51126774 + 69 42 59 C T 51126686 1377 82 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCTGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089254 51089255 51089255 exon 13 0.30952380952381 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCTGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 4424 1564 0.766212019863963 0.808668592390892 0.787440306127428 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.102846362835356 0.0152009014615703 0.839552922028187 0.831263036814321 NA -0.0438227306868929 NA FALSE NA 1 2.032 . missense_variant MODERATE DOCK3 HGNC 2989 ENST00000266037 8/53 rs553040677 1 deleterious(0.01) probably_damaging(0.995) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCG C 3.311e-05 3:51089255 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 missense_variant 7.575051 0.97715 0.88223 0.615465 0.998997827213689 0 0.999999698562023 TRUE NA ENSE00001129810_005 ENSE00001129810 005 3 51126605 51126774 + 69 42 59 G A 51126687 1378 83 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCAGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089255 51089256 51089256 exon 14 0.333333333333333 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCAGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 166 736 0.829252026388016 0.800539646391962 0.814895836389989 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.0398063563113028 0.00707195546264006 0.839552922028187 0.831263036814321 NA -0.0163672004243314 NA FALSE NA 1 8.457 . missense_variant MODERATE DOCK3 HGNC 2989 ENST00000266037 8/53 rs377200419&COSM1424214&COSM1424213 1 tolerated(0.18) probably_damaging(0.984) NA A:0.0003 A:0 CGG G 3.311e-05 3:51089256 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 missense_variant 6.205191 0.99393 0.99142 0.615465 0.998098638346956 0 0.999999698562023 TRUE NA ENSE00001129810_007 ENSE00001129810 007 3 51126605 51126774 + 69 42 59 T C 51126694 1380 90 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGCGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089262 51089263 51089263 exon 21 0.5 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGCGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 4276 3823 0.896983195685148 0.913064813096336 0.905024004390742 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA 0.0279248129858293 0.119597122167014 0.839552922028187 0.831263036814321 NA 0.0737609675764216 NA FALSE NA 1 0.892 . synonymous_variant LOW DOCK3 HGNC 2989 ENST00000266037 8/53 1 NA GTG T 3.311e-05 3:51089263 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 synonymous_variant 0.734759 0.9719 0.85632 0.615465 0.774133320385601 0 0.999999698562023 TRUE 3.75407e-05 ENSE00001129810_008 ENSE00001129810 008 3 51126605 51126774 + 69 42 59 A G 51126697 1381 93 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTGCAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089265 51089266 51089266 exon -19 0.571428571428571 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTGCAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 276 150 0.10538058333467 0.0131026044485586 0.0592415938916143 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.763677799364649 -0.780365086480764 0.839552922028187 0.831263036814321 NA -0.772021442922706 NA TRUE NA 0.993 0.349 . synonymous_variant LOW DOCK3 HGNC 2989 ENST00000266037 8/53 1 NA TAC A 4.139e-05 3:51089266 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 synonymous_variant 1.076757 0.97041 0.78383 0.615465 0.831392653596466 0 0.999999698562023 TRUE 1.66935e-05 ENSE00001129810_009 ENSE00001129810 009 3 51126605 51126774 + 69 42 59 A G 51126709 1382 105 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACGTCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089277 51089278 51089278 exon -7 0.857142857142857 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACGTCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 284 501 0.954636572784035 0.894089608845867 0.924363090814951 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA 0.0855781900847158 0.100621917916545 0.839552922028187 0.831263036814321 NA 0.0931000540006302 NA FALSE NA 1 1.723 . synonymous_variant LOW DOCK3 HGNC 2989 ENST00000266037 8/53 1 NA CAT A 1.656e-05 3:51089278 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 synonymous_variant 0.841054 0.9711 0.8709 0.615465 0.700002716955735 0 0.999999698562023 TRUE 1.25407e-05 ENSE00001129810_010 ENSE00001129810 010 3 51126605 51126774 + 69 42 59 C T 51126721 1383 117 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGTGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089289 51089290 51089290 downstr_intron 6 1.10344827586207 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGTGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 982 351 0.818499089387726 0.834364969168614 0.82643202927817 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.050559293311593 0.0408972782392918 0.839552922028187 0.831263036814321 NA -0.00483100753615062 NA FALSE NA 0.002 -0.818 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:51089290 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 splice_region_variant 0.484181 0.82126 0.02517 0.053691 0.600876793314914 0.0948053 0.999999698562023 TRUE NA ENSE00001129810_011 ENSE00001129810 011 3 51126605 51126774 + 69 42 59 C A 51126721 1384 117 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGAGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089289 51089290 51089290 downstr_intron 6 1.10344827586207 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGAGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 899 1471 0.802208202792146 0.67727151312521 0.739739857958678 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.066850179907173 -0.116196177804112 0.839552922028187 0.831263036814321 NA -0.0915231788556425 NA FALSE NA 0.002 -0.818 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK3 NA NA NA ENSG00000088538 ENSE00001129810 splice_region_variant 0.735326 0.83675 0.03201 0.053691 0.629879963838217 0.0948053 0.999999698562023 TRUE NA ENSE00001129810_012 ENSE00001129810 012 3 51126605 51126774 + 69 42 59 G A 51126722 1385 118 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCAGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089290 51089291 51089291 downstr_intron 7 1.12068965517241 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCAGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 564 1496 0.8 0.803428016300318 0.801714008150159 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.0690583826993189 0.009960325370996 0.839552922028187 0.831263036814321 NA -0.0295490286641614 NA FALSE NA 0 -0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:51089291 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 splice_region_variant -0.037018 0.12099 0.00182 0.053691 0.565732676981053 0.052078 0.999999698562023 TRUE 2.12195e-05 ENSE00001129810_013 ENSE00001129810 013 3 51126605 51126774 + 69 42 59 G C 51126722 1386 118 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCCGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089290 51089291 51089291 downstr_intron 7 1.12068965517241 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCCGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 560 1114 0.82867791784992 0.870685431868151 0.849681674859036 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.0403804648493987 0.0772177409388288 0.839552922028187 0.831263036814321 NA 0.0184186380447151 NA FALSE NA 0 -0.042 NA NA NA DOCK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK3 NA NA NA ENSG00000088538 ENSE00001129810 splice_region_variant -0.259214 0.2083 0.06031 0.053691 0.534294603217904 0.052078 0.999999698562023 TRUE 1.69756e-05 ENSE00001129810_014 ENSE00001129810 014 3 51126605 51126774 + 69 42 59 T C 51126727 1387 123 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTCCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089295 51089296 51089296 downstr_intron 12 1.20689655172414 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTCCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 1171 822 0.86874521630598 0.842676813504013 0.855711014904997 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.000313166393339115 0.0492091225746913 0.839552922028187 0.831263036814321 NA 0.0244479780906761 NA FALSE NA 0 -0.041 . intron_variant MODIFIER DOCK3 HGNC 2989 ENST00000266037 8/52 1 NA TTC T 2.484e-05 3:51089296 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 intron_variant -0.136182 0.16129 0.0156 0.053691 0.468171488643998 0.0448725 0.999999698562023 TRUE 3.4207e-05 ENSE00001129810_015 ENSE00001129810 015 3 51126605 51126774 + 69 42 59 T G 51126730 1388 126 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCGGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089298 51089299 51089299 downstr_intron 15 1.25862068965517 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCGGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 899 1740 0.927611294793209 0.905045827187142 0.916328560990175 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA 0.0585529120938897 0.11157813625782 0.839552922028187 0.831263036814321 NA 0.0850655241758549 NA FALSE NA 0 -0.256 . intron_variant MODIFIER DOCK3 HGNC 2989 ENST00000266037 8/52 1 NA CTG T 8.28e-06 3:51089299 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 intron_variant -0.026564 0.16979 0.02693 0.053691 0.345311565884276 0.0448725 0.999999698562023 TRUE 8.55403e-06 ENSE00001129810_016 ENSE00001129810 016 3 51126605 51126774 + 69 42 59 G A 51126731 1389 127 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTAGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089299 51089300 51089300 downstr_intron 16 1.27586206896552 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTAGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 2642 1459 0.679144904863438 0.798629317207659 0.738887111035548 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA -0.189913477835881 0.00516162627833638 0.839552922028187 0.831263036814321 NA -0.0923759257787722 NA FALSE NA 0.002 0.977 . intron_variant MODIFIER DOCK3 HGNC 2989 ENST00000266037 8/52 1 NA TGG G 4.969e-05 3:51089300 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 intron_variant -0.047643 0.08695 0.00023 0.053691 0.362704107364033 0.0448725 0.999999698562023 TRUE 2.58351e-05 ENSE00001129810_017 ENSE00001129810 017 3 51126605 51126774 + 69 42 59 C G 51126742 1390 138 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGGCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 51089310 51089311 51089311 downstr_intron 27 1.46551724137931 ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGGCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA mutant NA NA NA NA NA 822 760 0.953286967589187 0.957420126538794 0.95535354706399 0.85 0.829105844056375 0.869058382699319 0.793467690929322 NA NA 0.084228584889868 0.163952435609471 0.839552922028187 0.831263036814321 NA 0.12409051024967 NA FALSE NA 0 -0.039 . intron_variant MODIFIER DOCK3 HGNC 2989 ENST00000266037 8/52 1 NA GCC C 8.285e-06 3:51089311 DOCK3 HGNC Symbol protein_coding 708957 ENSG00000088538 ENSE00001129810 intron_variant -0.113608 0.23386 0.02897 0.053691 0.477814092170712 0.0448725 0.999999698562023 TRUE 4.47648e-06 ENSE00001129810_BRK ENSE00001129810 BRK 3 51126605 51126774 + 69 42 59 A,G; T,T NA NA NA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATTTCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGCCAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA 51089173 51089343 NA NA NA NA NA NA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATTTCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGCCAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA ATAGAAAGTTCTTAATAAAATTTAGTTTCTTTCCCGGTAGAGTTTATTTTTCTTTCCTTCTTTCCATAGCATTTATCTAGCCGGCAGAGTGTACAGCAAAGCACATCCCAGGTAAGCGGCTTTCCTGGGTCTTCCAGCCTTTCCCCTCAACTTTTTCTGTTAAGAGATTA control 46 27 0 0 0 1252 1107 0 0.0537315895744949 0.0268657947872474 0.85 0.829105844056375 0.869058382699319 0.793467690929322 -0.85 -0.829105844056375 -0.869058382699319 -0.739736101354827 0.839552922028187 0.831263036814321 -0.839552922028187 -0.804397242027073 0.0351556800011144 TRUE TRUE NA NA NA NA NA DOCK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK3 NA NA NA ENSG00000088538 ENSE00001129810 NA NA NA NA NA NA NA 0.999999698562023 TRUE NA ENSE00001129994_000 ENSE00001129994 000 2 189868397 189868566 + 63 54 53 NA NA NA NA NA TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 NA NA NA NA NA NA TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT natural 45 23 0.998993621268321 0.990809372850936 0.994901497059628 3633 5358 0.971679579579226 0.953584248024472 0.962631913801849 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 0 0 0 0 0.994901497059628 0.962631913801849 0 0 0 FALSE FALSE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001129994 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001129994_001 ENSE00001129994 001 2 189868397 189868566 + 63 54 53 C T 189868410 3611 14 TTTGTTTGTTGTATAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003683 189003684 189003684 upstr_intron -50 -0.777777777777778 TTTGTTTGTTGTATAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 469 568 0.998320774174339 0.99972146151342 0.999021117843879 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0266411945951129 0.0461372134889487 0.994901497059628 0.962631913801849 NA 0.0363892040420308 NA FALSE NA 0 -0.387 rs3765161 intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 rs3765161 1 T:0.1518 T:0.4138 T:0.0533 NA T:0.0952 T:0.0258 T:0.0552 T:0.328 T:0.03 ACA T,T 0.066 2:189003684 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 intron_variant -0.149664 0.08779 0.01516 0.053691 0.432435713051257 0.0666035 0.999999998393609 TRUE 0.0578137 ENSE00001129994_002 ENSE00001129994 002 2 189868397 189868566 + 63 54 53 G T 189868412 3612 16 TTTGTTTGTTGTACATTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003685 189003686 189003686 upstr_intron -48 -0.746031746031746 TTTGTTTGTTGTACATTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 285 1123 1 0.99982521233176 0.99991260616588 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0283204204207743 0.0462409643072886 0.994901497059628 0.962631913801849 NA 0.0372806923640315 NA FALSE NA 0 -0.786 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA AGT G,T 4.942e-05 2:189003686 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 intron_variant -0.237654 0.16122 0.05402 0.053691 0.505526989484911 0.112502 0.999999998393609 TRUE 4.47362e-05 ENSE00001129994_003 ENSE00001129994 003 2 189868397 189868566 + 63 54 53 C A 189868422 3613 26 TTTGTTTGTTGTACAGTTATTTGTTATACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003695 189003696 189003696 upstr_intron -38 -0.587301587301587 TTTGTTTGTTGTACAGTTATTTGTTATACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 422 124 0.998132249555206 1 0.999066124777603 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0264526699759807 0.0464157519755284 0.994901497059628 0.962631913801849 NA 0.0364342109757546 NA FALSE NA 0 0.148 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA TCT C,A 8.236e-06 2:189003696 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 intron_variant 0.490079 0.31855 0.30376 0.053691 0.71971808824046 0.1162 0.999999998393609 TRUE NA ENSE00001129994_005 ENSE00001129994 005 2 189868397 189868566 + 63 54 53 T A 189868434 3615 38 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAAATCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003707 189003708 189003708 upstr_intron -26 -0.396825396825397 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAAATCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 860 146 1 0.999738910858414 0.999869455429207 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0283204204207743 0.0461546628339425 0.994901497059628 0.962631913801849 NA 0.0372375416273584 NA FALSE NA 0 -0.573 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA ATT T,A 8.236e-06 2:189003708 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 intron_variant 0.62827 0.1908 0.06559 0.053691 0.720464247772641 0.1162 0.999999998393609 TRUE 4.06227e-06 ENSE00001129994_006 ENSE00001129994 006 2 189868397 189868566 + 63 54 53 A C 189868448 3616 52 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTCCCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003721 189003722 189003722 upstr_intron -12 -0.174603174603175 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTCCCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 1619 1672 0.99910692134663 0.996066711646196 0.997586816496413 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0274273417674041 0.0424824636217245 0.994901497059628 0.962631913801849 NA 0.0349549026945643 NA FALSE NA 0 -1.668 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA TAC A,C 8.236e-06 2:189003722 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 intron_variant 0.453025 0.21894 0.1165 0.053691 0.717426344743087 0.181152 0.999999998393609 TRUE 4.06207e-06 ENSE00001129994_007 ENSE00001129994 007 2 189868397 189868566 + 63 54 53 G T 189868461 3617 65 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGTTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003734 189003735 189003735 exon 2 0.037037037037037 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGTTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 566 493 1 0.998283434155912 0.999141717077956 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0283204204207743 0.04469918613144 0.994901497059628 0.962631913801849 NA 0.0365098032761071 NA FALSE NA 1 9.873 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA GGT G,T 8.236e-06 2:189003735 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 missense_variant 5.357986 0.9969 0.99897 0.553676 0.989046285022297 0 0.999999998393609 TRUE 4.06144e-06 ENSE00001129994_008 ENSE00001129994 008 2 189868397 189868566 + 63 54 53 C T 189868484 3618 88 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTTGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003757 189003758 189003758 exon 25 0.462962962962963 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTTGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 16 1074 1 0.996013528614036 0.998006764307018 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0283204204207743 0.0424292805895647 0.994901497059628 0.962631913801849 NA 0.0353748505051695 NA FALSE NA 0.995 2.212 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 COSM41130 1 NA TCG C,T 8.236e-06 2:189003758 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 missense_variant 6.347601 0.98987 0.97113 0.553676 0.997187471549105 0 0.999999998393609 TRUE 4.06154e-06 ENSE00001129994_009 ENSE00001129994 009 2 189868397 189868566 + 63 54 53 C A 189868532 3619 136 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTATTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003805 189003806 189003806 downstr_intron 19 1.36538461538462 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTATTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 481 418 0.996798627433822 1 0.998399313716911 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0251190478545963 0.0464157519755284 0.994901497059628 0.962631913801849 NA 0.0357673999150623 NA FALSE NA 0 -2.142 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA TCT C,A 8.236e-06 2:189003806 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 non_coding_transcript_exon_variant 0.028303 0.16165 0.0369 0.053691 0.675409009419342 0.110627 0.999999998393609 TRUE 4.06309e-06 ENSE00001129994_010 ENSE00001129994 010 2 189868397 189868566 + 63 54 53 T A 189868535 3620 139 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTATCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003808 189003809 189003809 downstr_intron 22 1.42307692307692 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTATCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 86 1154 0.976511107020078 0.988562742137233 0.982536924578655 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.00483152744085269 0.034978494112761 0.994901497059628 0.962631913801849 NA 0.0199050107768068 NA FALSE NA 0.025 2.234 rs28763878 intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 rs28763878 1 A:0.0118 A:0.0045 A:0.0245 NA A:0.001 A:0.0268 A:0.0082 A:0.0059 A:0.0412 TTT T,A 0.023 2:189003809 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 non_coding_transcript_exon_variant 1.323956 0.73623 0.93509 0.053691 0.884327481708281 0.0689526 0.999999998393609 TRUE 0.0234028 ENSE00001129994_011 ENSE00001129994 011 2 189868397 189868566 + 63 54 53 C T 189868539 3621 143 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTTATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003812 189003813 189003813 downstr_intron 26 1.5 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTTATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 1911 1001 0.998288728656272 0.997519636933582 0.997904182794927 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.026609149077046 0.0439353889091102 0.994901497059628 0.962631913801849 NA 0.0352722689930781 NA FALSE NA 0 -1.118 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA TCA C,T 8.236e-06 2:189003813 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 non_coding_transcript_exon_variant 0.691019 0.21701 0.02335 0.053691 0.732152905890983 0.0689526 0.999999998393609 TRUE NA ENSE00001129994_012 ENSE00001129994 012 2 189868397 189868566 + 63 54 53 A G 189868540 3622 144 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCGTCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003813 189003814 189003814 downstr_intron 27 1.51923076923077 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCGTCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 42 588 1 0.953788638288984 0.976894319144492 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.0283204204207743 0.000204390264512799 0.994901497059628 0.962631913801849 NA 0.0142624053426436 NA FALSE NA 0 0.448 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA CAT A,G 8.236e-06 2:189003814 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 non_coding_transcript_exon_variant 0.637386 0.26374 0.03515 0.053691 0.781225334127623 0.11275 0.999999998393609 TRUE 4.06359e-06 ENSE00001129994_013 ENSE00001129994 013 2 189868397 189868566 + 63 54 53 C A 189868542 3623 146 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATAATACACTTCAGAAAGAGCATTCAT 189003670 189003840 189003815 189003816 189003816 downstr_intron 29 1.55769230769231 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATAATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 1109 1110 0.99770884474891 0.866301144878438 0.932004994813674 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.026029265169684 -0.0872831031460335 0.994901497059628 0.962631913801849 NA -0.0306269189881748 NA FALSE NA 0 0.029 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 rs372966389 1 NA A:0 A:0.0001 TCA C,A 4.942e-05 2:189003816 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 non_coding_transcript_exon_variant 0.595898 0.20474 0.04737 0.053691 0.717055529965438 0.0689526 0.999999998393609 TRUE 3.65776e-05 ENSE00001129994_015 ENSE00001129994 015 2 189868397 189868566 + 63 54 53 C A 189868548 3625 152 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACAATTCAGAAAGAGCATTCAT 189003670 189003840 189003821 189003822 189003822 downstr_intron 35 1.67307692307692 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACAATTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 2354 399 0.995352715444698 0.995052841294247 0.995202778369472 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.023673135865472 0.0414685932697749 0.994901497059628 0.962631913801849 NA 0.0325708645676235 NA FALSE NA 0 -1.952 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:189003822 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 non_coding_transcript_exon_variant 0.298164 0.15365 0.02789 0.053691 0.67887189075899 0.0689526 0.999999998393609 TRUE 3.25169e-05 ENSE00001129994_016 ENSE00001129994 016 2 189868397 189868566 + 63 54 53 C T 189868548 3626 152 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACATTTCAGAAAGAGCATTCAT 189003670 189003840 189003821 189003822 189003822 downstr_intron 35 1.67307692307692 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACATTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 245 2277 0.977393611728226 0.99899083782221 0.988192224775218 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA 0.00571403214900068 0.045406589797738 0.994901497059628 0.962631913801849 NA 0.0255603109733694 NA FALSE NA 0 -1.952 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001129994 non_coding_transcript_exon_variant 0.216498 0.11341 0.00337 0.053691 0.628971486865096 0.0689526 8.6570108559178e-06 FALSE 8.12922e-06 ENSE00001129994_017 ENSE00001129994 017 2 189868397 189868566 + 63 54 53 C G 189868548 3627 152 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACAGTTCAGAAAGAGCATTCAT 189003670 189003840 189003821 189003822 189003822 downstr_intron 35 1.67307692307692 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACAGTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 486 295 0.959086794010322 0.992290874651826 0.975688834331074 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA -0.012592785568904 0.038706626627354 0.994901497059628 0.962631913801849 NA 0.013056920529225 NA FALSE NA 0 -1.952 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001129994 non_coding_transcript_exon_variant 0.13259 0.17101 0.0368 0.053691 0.640751568855896 0.0689526 0.999999998393609 TRUE 8.12922e-06 ENSE00001129994_018 ENSE00001129994 018 2 189868397 189868566 + 63 54 53 G T 189868553 3628 157 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCATAAAGAGCATTCAT 189003670 189003840 189003826 189003827 189003827 downstr_intron 40 1.76923076923077 TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCATAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT mutant NA NA NA NA NA 1280 1957 0.831929985257619 0.995672398365184 0.913801191811402 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA -0.139749594321606 0.0420881503407119 0.994901497059628 0.962631913801849 NA -0.0488307219904472 NA FALSE NA 0.023 0.94 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 36/41 1 NA AGA G,T 8.236e-06 2:189003827 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001129994 non_coding_transcript_exon_variant 0.461672 0.22072 0.03986 0.053691 0.690111473708458 0.0699066 0.999999998393609 TRUE 4.0655e-06 ENSE00001129994_BRK ENSE00001129994 BRK 2 189868397 189868566 + 63 54 53 A,G; T,T NA NA NA TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACTTGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATCCAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT 189003670 189003840 NA NA NA NA NA NA TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACTTGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATCCAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT TTTGTTTGTTGTACAGTTATTTGTTCTACTTTTGAAATTCAAAAATATATTACCATTTCACAGGGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGTAAGTAATTGTTAAAGTCTTTTCTCATCATACACTTCAGAAAGAGCATTCAT control NA NA NA NA NA 241 444 0.143431665176524 0 0.0717158325882622 0.998993621268321 0.990809372850936 0.971679579579226 0.953584248024472 NA NA -0.828247914402701 -0.953584248024472 0.994901497059628 0.962631913801849 NA -0.890916081213587 NA TRUE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001129994 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130031_000 ENSE00001130031 000 2 189864505 189864674 + 63 54 53 NA NA NA NA NA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 NA NA NA NA NA NA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA natural NA NA NA NA NA 1605 3765 0.93367065317682 0.997155521055772 0.965413087116296 NA NA 0.93367065317682 0.997155521055772 NA NA 0 0 NA 0.965413087116296 NA 0 NA FALSE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130031 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130031_002 ENSE00001130031 002 2 189864505 189864674 + 63 54 53 T A 189864531 3597 27 TCTTCTTGGCTGATTTTCACTGAAGAAACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999804 188999805 188999805 upstr_intron -37 -0.571428571428571 TCTTCTTGGCTGATTTTCACTGAAGAAACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 119 251 1 1 1 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0663293468231801 0.00284447894422757 NA 0.965413087116296 NA 0.0345869128837039 NA FALSE NA 0 -0.068 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 31/41 rs531144271 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 ATA T,A 5.816e-05 2:188999805 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 intron_variant 0.534881 0.28032 0.27275 0.061011 0.639322618640636 0.226262 0.999999998393609 TRUE 5.73305e-05 ENSE00001130031_003 ENSE00001130031 003 2 189864505 189864674 + 63 54 53 G A 189864537 3598 33 TCTTCTTGGCTGATTTTCACTGAAGATACTTTAAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999810 188999811 188999811 upstr_intron -31 -0.476190476190476 TCTTCTTGGCTGATTTTCACTGAAGATACTTTAAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 787 287 1 0.993128804333572 0.996564402166786 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0663293468231801 -0.00402671672220023 NA 0.965413087116296 NA 0.03115131505049 NA FALSE NA 0 -0.005 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 31/41 rs376961203 1 NA A:0.0002 A:0 TGA G,A 5.81e-05 2:188999811 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 intron_variant 0.042778 0.24416 0.04204 0.061011 0.56209973772078 0.155087 0.999999998393609 TRUE 0.000147124 ENSE00001130031_004 ENSE00001130031 004 2 189864505 189864674 + 63 54 53 C G 189864541 3599 37 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATGTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999814 188999815 188999815 upstr_intron -27 -0.412698412698413 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATGTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 244 859 0.992376062056817 0.999815843874723 0.99609595296577 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0587054088799972 0.00266032281895057 NA 0.965413087116296 NA 0.0306828658494739 NA FALSE NA 0 -0.161 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 31/41 1 NA TCT C,G 1.659e-05 2:188999815 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 intron_variant 0.249048 0.24022 0.13135 0.061011 0.541492052733506 0.155087 0.999999998393609 TRUE 4.48024e-05 ENSE00001130031_006 ENSE00001130031 006 2 189864505 189864674 + 63 54 53 C T 189864579 3601 75 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGTGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999852 188999853 188999853 exon 12 0.222222222222222 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGTGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 711 677 0.995597440714689 1 0.997798720357345 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0619267875378692 0.00284447894422757 NA 0.965413087116296 NA 0.0323856332410484 NA FALSE NA 0 -1.713 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 32/42 1 NA GCG C,T 4.138e-05 2:188999853 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 synonymous_variant 1.653326 0.15743 0.04823 0.553676 0.434294859083842 0 0.999999998393609 TRUE NA ENSE00001130031_007 ENSE00001130031 007 2 189864505 189864674 + 63 54 53 G A 189864580 3602 76 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCAGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999853 188999854 188999854 exon 13 0.240740740740741 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCAGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 13 94 1 1 1 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0663293468231801 0.00284447894422757 NA 0.965413087116296 NA 0.0345869128837039 NA FALSE NA 0 0.626 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 32/42 1 unknown(0) NA CGG G,A 4.138e-05 2:188999854 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 missense_variant 1.129957 0.25779 0.17123 0.553676 0.366492548382808 0 0.999999998393609 TRUE NA ENSE00001130031_008 ENSE00001130031 008 2 189864505 189864674 + 63 54 53 T C 189864582 3603 78 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGCCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999855 188999856 188999856 exon 15 0.277777777777778 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGCCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 2758 86 0.9973216266096 0.996304071575541 0.99681284909257 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0636509734327798 -0.000851449480231636 NA 0.965413087116296 NA 0.0313997619762741 NA FALSE NA 0 -1.19 rs1801184 synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 32/42 rs1801184&COSM4133338&COSM4133339 1 C:0.2121 C:0.2814 C:0.2334 NA C:0.0685 C:0.2922 C:0.1687 C:0.2762 C:0.2896 GTC T,C 0.222 2:188999856 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 synonymous_variant -0.441758 0.24154 0.08282 0.553676 0.595747492304784 0 0.999999998393609 TRUE 0.233858 ENSE00001130031_009 ENSE00001130031 009 2 189864505 189864674 + 63 54 53 C G 189864583 3604 79 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTGCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999856 188999857 188999857 exon 16 0.296296296296296 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTGCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 422 332 0.995166984907722 1 0.997583492453861 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0614963317309022 0.00284447894422757 NA 0.965413087116296 NA 0.0321704053375649 NA FALSE NA 0 0.154 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 32/42 COSM3575396&COSM3575397 1 unknown(0) NA TCC C,G 8.278e-06 2:188999857 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 missense_variant -0.79083 0.20839 0.08209 0.553676 0.462444929292519 0 0.999999998393609 TRUE 1.39023e-05 ENSE00001130031_011 ENSE00001130031 011 2 189864505 189864674 + 63 54 53 G A 189864606 3606 102 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGAAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999879 188999880 188999880 exon -16 0.722222222222222 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGAAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 34 30 1 1 1 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0663293468231801 0.00284447894422757 NA 0.965413087116296 NA 0.0345869128837039 NA FALSE NA 0 -1.797 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 32/42 1 NA GGA G,A 8.297e-06 2:188999880 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 synonymous_variant 1.240405 0.63283 0.11171 0.553676 0.698634751466303 0 0.999999998393609 TRUE NA ENSE00001130031_012 ENSE00001130031 012 2 189864505 189864674 + 63 54 53 C T 189864615 3607 111 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGTCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999888 188999889 188999889 exon -7 0.888888888888889 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGTCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 201 102 0.9851874817015 1 0.99259374085075 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0515168285246798 0.00284447894422757 NA 0.965413087116296 NA 0.0271806537344537 NA FALSE NA 0 -1.073 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 32/42 1 NA GCC C,T 3.325e-05 2:188999889 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 synonymous_variant 1.568115 0.20746 0.03611 0.553676 0.551708659054848 0 0.999999998393609 TRUE 7.30524e-05 ENSE00001130031_013 ENSE00001130031 013 2 189864505 189864674 + 63 54 53 A G 189864643 3608 139 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGGAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 188999916 188999917 188999917 downstr_intron 22 1.42307692307692 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGGAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 269 277 0.998304888775712 1 0.999152444387856 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0646342355988919 0.00284447894422757 NA 0.965413087116296 NA 0.0337393572715597 NA FALSE NA 0.001 1.734 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 32/41 rs546633187 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GAA A,G 3.382e-05 2:188999917 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 intron_variant -0.080864 0.24063 0.232 0.061011 0.629050764657062 0.0672008 0.999999998393609 TRUE 3.80534e-05 ENSE00001130031_014 ENSE00001130031 014 2 189864505 189864674 + 63 54 53 A C 189864654 3609 150 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTCTCTATATGTCATATGGGACA 188999778 188999948 188999927 188999928 188999928 downstr_intron 33 1.63461538461538 TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTCTCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA mutant NA NA NA NA NA 87 2688 0.99268134905382 0.999941159266981 0.9963112541604 NA NA 0.93367065317682 0.997155521055772 NA NA 0.0590106958770006 0.00278563821120814 NA 0.965413087116296 NA 0.0308981670441044 NA FALSE NA 0 1.247 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 32/41 rs369640003 1 C:0.0008 C:0.003 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 TAT A,C 4.275e-05 2:188999928 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130031 intron_variant -0.038027 0.28516 0.23492 0.061011 0.554056481426687 0.04676 0.999999998393609 TRUE 5.16387e-05 ENSE00001130031_BRK ENSE00001130031 BRK 2 189864505 189864674 + 63 54 53 A,G; T,T NA NA NA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACTTGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGCCGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA 188999778 188999948 NA NA NA NA NA NA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACTTGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGCCGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA TCTTCTTGGCTGATTTTCACTGAAGATACTTTGAATCTGATGACATTGGCTTTTATTTGACAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGTGAGTATTCCCAGTGAGGAGAAGCAGGCCTTATCTATATGTCATATGGGACA control NA NA NA NA NA 397 349 0.166425142788381 0 0.0832125713941905 NA NA 0.93367065317682 0.997155521055772 NA NA -0.767245510388439 -0.997155521055772 NA 0.965413087116296 NA -0.882200515722106 NA TRUE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130031 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130041_000 ENSE00001130041 000 2 189863970 189864139 + 41 99 30 NA NA NA NA NA TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT 188999243 188999413 NA NA NA NA NA NA TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT natural NA NA NA NA NA 867 1314 0.988306630793283 0.982645225929512 0.985475928361398 NA NA 0.988306630793283 0.982645225929512 NA NA 0 0 NA 0.985475928361398 NA 0 NA FALSE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130041 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130041_001 ENSE00001130041 001 2 189863970 189864139 + 41 99 30 G A 189864023 3585 54 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTACCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT 188999243 188999413 188999296 188999297 188999297 exon 13 0.131313131313131 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTACCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT mutant NA NA NA NA NA 428 672 0.991426065414678 0.999829922879905 0.995627994147292 NA NA 0.988306630793283 0.982645225929512 NA NA 0.00311943462139497 0.0171846969503929 NA 0.985475928361398 NA 0.0101520657858939 NA FALSE NA 0.335 0.778 rs41263773 missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 30/42 rs41263773 1 unknown(0) A:0.0018 A:0 A:0 NA A:0 A:0.004 A:0.0051 A:0.0014 A:0.007 TGC G,A 0.005309 2:188999297 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130041 missense_variant 3.181158 0.97655 0.79636 0.487112 0.890083595191867 0 0.999999998393609 TRUE 0.00552585 ENSE00001130041_005 ENSE00001130041 005 2 189863970 189864139 + 41 99 30 G A 189864080 3589 111 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAACTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT 188999243 188999413 188999353 188999354 188999354 exon -30 0.707070707070707 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAACTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT mutant NA NA NA NA NA 280 422 1 0.995854957692748 0.997927478846374 NA NA 0.988306630793283 0.982645225929512 NA NA 0.0116933692067166 0.0132097317632356 NA 0.985475928361398 NA 0.0124515504849761 NA FALSE NA 0 0.487 rs1800255 missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 30/42 rs1800255&COSM3757850&COSM3757851&CM086593 1 unknown(0) A:0.2185 A:0.1051 A:0.2522 NA A:0.2331 A:0.2624 A:0.2873 AGC G,A 0.231 2:188999354 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130041 missense_variant 3.333551 0.95424 0.27354 0.553676 0.978179554995664 0 0.999999998393609 TRUE 0.249659 ENSE00001130041_007 ENSE00001130041 007 2 189863970 189864139 + 41 99 30 C T 189864097 3591 128 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCTGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT 188999243 188999413 188999370 188999371 188999371 exon -13 0.878787878787879 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCTGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT mutant NA NA NA NA NA 202 183 0.988227775916336 1 0.994113887958168 NA NA 0.988306630793283 0.982645225929512 NA NA -7.88548769473651e-05 0.017354774070488 NA 0.985475928361398 NA 0.00863795959677033 NA FALSE NA 0 -1.713 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 30/42 1 NA CCG C,T 4.12e-05 2:188999371 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130041 synonymous_variant 2.264404 0.08949 0.01826 0.553676 0.389766450834039 0 0.999999998393609 TRUE 3.44637e-05 ENSE00001130041_008 ENSE00001130041 008 2 189863970 189864139 + 41 99 30 C G 189864114 3592 145 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAAGTCCACAGCATTCCATTCACCTAGGT 188999243 188999413 188999387 188999388 188999388 downstr_intron 5 1.17241379310345 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAAGTCCACAGCATTCCATTCACCTAGGT TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT mutant NA NA NA NA NA 304 40 1 0.996025419298962 0.998012709649481 NA NA 0.988306630793283 0.982645225929512 NA NA 0.0116933692067166 0.0133801933694505 NA 0.985475928361398 NA 0.0125367812880836 NA FALSE NA 0.002 -0.028 . splice_region_variant&intron_variant LOW COL3A1 HGNC 2201 ENST00000317840 30/41 rs200541424 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 ACT C,G 8.237e-06 2:188999388 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130041 splice_region_variant 0.155348 0.24475 0.01762 0.061011 0.413287586580088 0.255854 0.999999998393609 TRUE 4.13363e-06 ENSE00001130041_010 ENSE00001130041 010 2 189863970 189864139 + 41 99 30 C A 189864127 3594 158 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCAATTCACCTAGGT 188999243 188999413 188999400 188999401 188999401 downstr_intron 18 1.62068965517241 TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCAATTCACCTAGGT TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT mutant NA NA NA NA NA 175 11 0.99291917324224 0.95 0.97145958662112 NA NA 0.988306630793283 0.982645225929512 NA NA 0.00461254244895692 -0.0326452259295121 NA 0.985475928361398 NA -0.0140163417402776 NA FALSE NA 0 -0.132 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 30/41 1 NA CCA C,A 2.471e-05 2:188999401 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130041 intron_variant 0.077416 0.12996 0.00484 0.061011 0.520141521344145 0.24181 0.999999998393609 TRUE 2.04732e-05 ENSE00001130041_BRK ENSE00001130041 BRK 2 189863970 189864139 + 41 99 30 A,G; T,T NA NA NA TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACTTGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGCCAACTCCACAGCATTCCATTCACCTAGGT 188999243 188999413 NA NA NA NA NA NA TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACTTGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGCCAACTCCACAGCATTCCATTCACCTAGGT TTGGGTTGTCTAATATGGTTATTTACATATTTTTGTCACAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGTAACTCCACAGCATTCCATTCACCTAGGT control NA NA NA NA NA 193 96 0 0 0 NA NA 0.988306630793283 0.982645225929512 NA NA -0.988306630793283 -0.982645225929512 NA 0.985475928361398 NA -0.985475928361398 NA TRUE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130041 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130079_000 ENSE00001130079 000 2 189861083 189861252 + 41 99 30 NA NA NA NA NA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 NA NA NA NA NA NA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA natural 34 130 0.916401099731725 0.839026837901838 0.877713968816781 5398 4023 0.939315980913824 0.901232639825979 0.920274310369901 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 0 0 0 0 0.877713968816781 0.920274310369901 0 0 0 FALSE FALSE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130079 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130079_001 ENSE00001130079 001 2 189861083 189861252 + 41 99 30 C A 189861095 3565 13 CTCTTTATCAAAACTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996368 188996369 188996369 upstr_intron -29 -0.682926829268293 CTCTTTATCAAAACTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 459 647 0.983791815643967 0.992806451005804 0.988299133324886 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.0444758347301427 0.0915738111798254 0.877713968816781 0.920274310369901 NA 0.0680248229549841 NA FALSE NA 0 -1.747 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 23/41 1 NA ACC C,A 8.238e-06 2:188996369 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 intron_variant 0.066497 0.26662 0.10039 0.061011 0.594818347261817 0.044906 0.999999998393609 TRUE 4.09487e-06 ENSE00001130079_002 ENSE00001130079 002 2 189861083 189861252 + 41 99 30 C T 189861096 3566 14 CTCTTTATCAAACTTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996369 188996370 188996370 upstr_intron -28 -0.658536585365854 CTCTTTATCAAACTTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 774 225 0.970217074481087 0.968376796706629 0.969296935593858 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.0309010935672629 0.06714415688065 0.877713968816781 0.920274310369901 NA 0.0490226252239565 NA FALSE NA 0 -1.031 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 23/41 1 NA CCT C,T 1.648e-05 2:188996370 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 intron_variant 0.41759 0.21132 0.0458 0.061011 0.618429570748097 0.044906 0.999999998393609 TRUE 3.27434e-05 ENSE00001130079_003 ENSE00001130079 003 2 189861083 189861252 + 41 99 30 T G 189861105 3567 23 CTCTTTATCAAACCTTTATTAAGGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996378 188996379 188996379 upstr_intron -19 -0.439024390243902 CTCTTTATCAAACCTTTATTAAGGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 825 1009 0.0138331475259826 0 0.00691657376299129 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.925482833387841 -0.901232639825979 0.877713968816781 0.920274310369901 NA -0.91335773660691 NA TRUE NA 0 -0.173 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 23/41 rs367750985 1 NA C:0.0002 C:0 ATG T,G 8.237e-06 2:188996379 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 intron_variant 0.25735 0.33927 0.08649 0.061011 0.658452659238762 0.0946271 0.999999998393609 TRUE 4.07375e-06 ENSE00001130079_005 ENSE00001130079 005 2 189861083 189861252 + 41 99 30 A C 189861139 3569 57 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAACGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996412 188996413 188996413 exon 16 0.161616161616162 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAACGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 908 866 0.996224979241709 0.980502361413754 0.988363670327731 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.056908998327885 0.0792697215877749 0.877713968816781 0.920274310369901 NA 0.0680893599578299 NA FALSE NA 0.978 1.459 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 1 unknown(0) NA AAG A,C 8.236e-06 2:188996413 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 3.280608 0.97973 0.85262 0.553676 0.982602476137271 0 0.999999998393609 TRUE 4.06187e-06 ENSE00001130079_006 ENSE00001130079 006 2 189861083 189861252 + 41 99 30 G A 189861146 3570 64 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCAACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996419 188996420 188996420 exon 23 0.232323232323232 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCAACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 3053 908 0.970126356760929 0.967216249779195 0.968671303270062 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.0308103758471054 0.0659836099532164 0.877713968816781 0.920274310369901 NA 0.0483969929001609 NA FALSE NA 1 7.739 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 1 unknown(0) NA CGA G,A 8.236e-06 2:188996420 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 5.795038 0.99243 0.98719 0.553676 0.998624360615915 0 0.999999998393609 TRUE 1.21861e-05 ENSE00001130079_007 ENSE00001130079 007 2 189861083 189861252 + 41 99 30 A G 189861150 3571 68 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCGGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996423 188996424 188996424 exon 27 0.272727272727273 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCGGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 964 2101 0.953108174487969 0.972828640703965 0.962968407595967 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.0137921935741452 0.0715960008779856 0.877713968816781 0.920274310369901 NA 0.0426940972260654 NA FALSE NA 0.114 -0.387 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 24/42 1 NA CAG A,G 8.236e-06 2:188996424 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 synonymous_variant 0.765612 0.92537 0.35358 0.553676 0.532834832015625 0 0.999999998393609 TRUE 4.06194e-06 ENSE00001130079_008 ENSE00001130079 008 2 189861083 189861252 + 41 99 30 C A 189861155 3572 73 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCATCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996428 188996429 188996429 exon 32 0.323232323232323 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCATCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 1934 437 0.995036014849443 0.995482067660171 0.995259041254807 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.0557200339356192 0.0942494278341918 0.877713968816781 0.920274310369901 NA 0.0749847308849055 NA FALSE NA 0.997 5.765 rs144260440 missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 rs144260440 1 unknown(0) NA A:0.0002 A:0 CCT C,A 3.295e-05 2:188996429 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 5.589768 0.99563 0.98807 0.553676 0.994187902891042 0 0.999999998393609 TRUE 2.437e-05 ENSE00001130079_009 ENSE00001130079 009 2 189861083 189861252 + 41 99 30 C G 189861157 3573 75 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTGCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996430 188996431 188996431 exon 34 0.343434343434343 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTGCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 2902 1843 0.829937263770469 0.999914178222503 0.914925720996486 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.109378717143355 0.098681538396524 0.877713968816781 0.920274310369901 NA -0.00534858937341554 NA FALSE NA 0.998 3.893 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 1 unknown(0) NA TCC C,G 3.295e-05 2:188996431 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 2.350237 0.99251 0.97092 0.553676 0.962451200028593 0 0.999999998393609 TRUE 1.62475e-05 ENSE00001130079_010 ENSE00001130079 010 2 189861083 189861252 + 41 99 30 C T 189861158 3574 76 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCTTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996431 188996432 188996432 exon 35 0.353535353535354 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCTTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 1630 1093 0.833079240504668 0.881647486171777 0.857363363338222 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.106236740409156 -0.0195851536542024 0.877713968816781 0.920274310369901 NA -0.0629109470316793 NA FALSE NA 1 5.879 rs150543864 missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 rs150543864 1 unknown(0) T:0.0012 T:0 T:0 NA T:0.006 T:0 T:0 CCT C,T 0.0002883 2:188996432 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 5.94359 0.99545 0.98808 0.553676 0.997446677417849 0 0.999999998393609 TRUE 0.000259966 ENSE00001130079_011 ENSE00001130079 011 2 189861083 189861252 + 41 99 30 G A 189861162 3575 80 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGACCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996435 188996436 188996436 exon 39 0.393939393939394 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGACCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 898 768 0.95054015524223 0.972063301769208 0.961301728505719 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.0112241743284064 0.070830661943229 0.877713968816781 0.920274310369901 NA 0.0410274181358177 NA FALSE NA 0 -1.714 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 24/42 1 NA GGC G,A 2.471e-05 2:188996436 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 synonymous_variant 1.642273 0.93332 0.1585 0.553676 0.591958073512955 0 0.999999998393609 TRUE 4.06204e-05 ENSE00001130079_012 ENSE00001130079 012 2 189861083 189861252 + 41 99 30 T C 189861168 3576 86 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCCGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996441 188996442 188996442 exon 45 0.454545454545455 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCCGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 86 1387 0.990018772446285 0.992799000202928 0.991408886324607 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.0507027915324607 0.0915663603769494 0.877713968816781 0.920274310369901 NA 0.0711345759547051 NA FALSE NA 0.002 0.041 rs141542949 synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 24/42 rs141542949 1 NA C:0.0002 C:0 CTG T,C 2.471e-05 2:188996442 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 synonymous_variant 1.122004 0.97128 0.3078 0.553676 0.71301116222612 0 0.999999998393609 TRUE 2.03103e-05 ENSE00001130079_014 ENSE00001130079 014 2 189861083 189861252 + 41 99 30 G A 189861176 3578 94 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCAAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996449 188996450 188996450 exon -47 0.535353535353535 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCAAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 1200 3586 0.920436567618301 0.997214375356641 0.958825471487471 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.0188794132955227 0.0959817355306621 0.877713968816781 0.920274310369901 NA 0.0385511611175697 NA FALSE NA 1 9.589 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 1 unknown(0) NA CGA G,A 8.236e-06 2:188996450 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 5.215271 0.99555 0.9947 0.553676 0.999187777372052 0 0.999999998393609 TRUE 4.06256e-06 ENSE00001130079_015 ENSE00001130079 015 2 189861083 189861252 + 41 99 30 A G 189861193 3579 111 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCGTGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996466 188996467 188996467 exon -30 0.707070707070707 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCGTGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 2464 453 0.989422000528525 0.959535338476683 0.974478669502604 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA 0.0501060196147008 0.0583026986507045 0.877713968816781 0.920274310369901 NA 0.0542043591327027 NA FALSE NA 1 9.076 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 rs374539128 1 unknown(0) NA G:0 G:0.0001 CAT A,G 8.236e-06 2:188996467 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 4.11763 0.9939 0.99451 0.553676 0.935042184673978 0 0.999999998393609 TRUE 4.06273e-06 ENSE00001130079_016 ENSE00001130079 016 2 189861083 189861252 + 41 99 30 C T 189861203 3580 121 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCTCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996476 188996477 188996477 exon -20 0.808080808080808 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCTCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 787 1366 0.587486525128162 0.63775032691088 0.612618426019521 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.351829455785662 -0.263482312915099 0.877713968816781 0.920274310369901 NA -0.307655884350381 NA FALSE NA 1 7.598 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 COSM363341 1 unknown(0) NA CCC C,T 8.236e-06 2:188996477 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 6.239007 0.99545 0.99143 0.553676 0.997517461445404 0 0.999999998393609 TRUE 4.06451e-06 ENSE00001130079_018 ENSE00001130079 018 2 189861083 189861252 + 41 99 30 T C 189861219 3582 137 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAACGATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996492 188996493 188996493 exon -4 0.96969696969697 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAACGATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 2476 13528 0.923086625891348 0.929663454160279 0.926375040025813 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.0162293550224762 0.0284308143342995 0.877713968816781 0.920274310369901 NA 0.00610072965591163 NA FALSE NA 0.956 0.004 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 24/42 1 NA ATG T,C 8.237e-06 2:188996493 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 synonymous_variant 0.217381 0.91341 0.7801 0.553676 0.446184601143075 0 0.999999998393609 TRUE 8.13603e-06 ENSE00001130079_019 ENSE00001130079 019 2 189861083 189861252 + 41 99 30 G T 189861220 3583 138 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATTATGTGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996493 188996494 188996494 exon -3 0.97979797979798 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATTATGTGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 502 960 0.435216492932987 0.426487350426527 0.430851921679757 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.504099487980837 -0.474745289399452 0.877713968816781 0.920274310369901 NA -0.489422388690145 NA FALSE NA 1 2.043 . missense_variant&splice_region_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 24/42 1 unknown(0) NA TGA G,T 8.237e-06 2:188996494 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 missense_variant 4.449155 0.98392 0.94763 0.553676 0.982624849554621 0 0.999999998393609 TRUE 4.06845e-06 ENSE00001130079_020 ENSE00001130079 020 2 189861083 189861252 + 41 99 30 T C 189861228 3584 146 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGCTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 188996501 188996502 188996502 downstr_intron 6 1.20689655172414 CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGCTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA mutant NA NA NA NA NA 874 301 0.124491248456589 0.0340550307917309 0.0792731396241601 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.814824732457235 -0.867177609034248 0.877713968816781 0.920274310369901 NA -0.841001170745741 NA TRUE NA 1 5.946 rs189483688 splice_region_variant&intron_variant LOW COL3A1 HGNC 2201 ENST00000317840 24/41 rs189483688 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 GTT T,C 8.237e-06 2:188996502 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130079 splice_region_variant 1.066605 0.98513 0.97742 0.061011 0.873933279155068 0.971564 0.999999998393609 TRUE 6.52124e-05 ENSE00001130079_BRK ENSE00001130079 BRK 2 189861083 189861252 + 41 99 30 A,G; T,T NA NA NA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTTTGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATCCGAGTTCCTTCATTAATTTCTTCAATAAA 188996356 188996526 NA NA NA NA NA NA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTTTGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATCCGAGTTCCTTCATTAATTTCTTCAATAAA CTCTTTATCAAACCTTTATTAATGTAATTTTTTCTTATTAGGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGTGAGTTCCTTCATTAATTTCTTCAATAAA control NA NA NA NA NA 3611 1363 0.0095724633076701 0.0105931840323447 0.0100828236700074 0.916401099731725 0.839026837901838 0.939315980913824 0.901232639825979 NA NA -0.929743517606154 -0.890639455793634 0.877713968816781 0.920274310369901 NA -0.910191486699894 NA TRUE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130079 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130085_000 ENSE00001130085 000 2 189860788 189860957 + 63 54 53 NA NA NA NA NA TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 NA NA NA NA NA NA TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT natural 222 422 0.850148477192326 0.768297407777633 0.809222942484979 8790 8470 0.899433981237378 0.920748793910322 0.91009138757385 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 0 0 0 0 0.809222942484979 0.91009138757385 0 0 0 FALSE FALSE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130085 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130085_001 ENSE00001130085 001 2 189860788 189860957 + 63 54 53 T C 189860805 3551 18 TGTATGTAGTAATTTTTCATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996078 188996079 188996079 upstr_intron -46 -0.714285714285714 TGTATGTAGTAATTTTTCATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 2776 1489 0.950021180387327 0.956816420603288 0.953418800495308 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0505871991499491 0.0360676266929663 0.809222942484979 0.91009138757385 NA 0.0433274129214577 NA FALSE NA 0 -0.382 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 22/41 1 NA TTA T,C 8.244e-06 2:188996079 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 intron_variant 0.334882 0.18997 0.04747 0.061011 0.638087565102424 0.0448725 0.999999998393609 TRUE 4.0863e-06 ENSE00001130085_002 ENSE00001130085 002 2 189860788 189860957 + 63 54 53 C T 189860825 3552 38 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCATCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996098 188996099 188996099 upstr_intron -26 -0.396825396825397 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCATCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 1943 1279 0.973077954373439 0.992354525570825 0.982716239972132 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0736439731360607 0.0716057316605034 0.809222942484979 0.91009138757385 NA 0.0726248523982821 NA FALSE NA 0 -1.974 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 22/41 rs371405849 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0 ACC C,T 9.885e-05 2:188996099 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 intron_variant 0.209797 0.19052 0.0136 0.061011 0.514335001654598 0.153832 0.999999998393609 TRUE 0.000105809 ENSE00001130085_003 ENSE00001130085 003 2 189860788 189860957 + 63 54 53 A G 189860832 3553 45 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAGCTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996105 188996106 188996106 upstr_intron -19 -0.285714285714286 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAGCTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 6156 3663 0.924462312636469 0.854012183426566 0.889237248031517 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0250283313990908 -0.0667366104837561 0.809222942484979 0.91009138757385 NA -0.0208541395423327 NA FALSE NA 0 0.411 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 22/41 1 NA AAC A,G 8.237e-06 2:188996106 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 intron_variant 0.217535 0.21017 0.12801 0.061011 0.561834660981618 0.153901 0.999999998393609 TRUE 4.06686e-06 ENSE00001130085_004 ENSE00001130085 004 2 189860788 189860957 + 63 54 53 A T 189860836 3554 49 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGTCTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996109 188996110 188996110 upstr_intron -15 -0.222222222222222 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGTCTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 3285 5148 0.966097031173776 0.99577929971152 0.980938165442648 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0666630499363975 0.0750305058011983 0.809222942484979 0.91009138757385 NA 0.0708467778687979 NA FALSE NA 0 0.302 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 22/41 1 NA GAC A,T 8.237e-06 2:188996110 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 intron_variant 0.783236 0.20118 0.03551 0.061011 0.765994665990651 0.153901 0.999999998393609 TRUE 4.06626e-06 ENSE00001130085_006 ENSE00001130085 006 2 189860788 189860957 + 63 54 53 T C 189860846 3556 59 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACCTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996119 188996120 188996120 upstr_intron -5 -0.0634920634920635 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACCTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 2160 413 0.888436697907744 0.898202749616841 0.893319723762293 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA -0.010997283329634 -0.0225460442934808 0.809222942484979 0.91009138757385 NA -0.0167716638115574 NA FALSE NA 0.013 2.582 . splice_region_variant&intron_variant LOW COL3A1 HGNC 2201 ENST00000317840 22/41 1 NA CTT T,C 8.237e-06 2:188996120 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 splice_region_variant 0.843808 0.47117 0.43695 0.061011 0.662515636596588 0.228523 0.999999998393609 TRUE 8.12876e-06 ENSE00001130085_007 ENSE00001130085 007 2 189860788 189860957 + 63 54 53 C T 189860848 3557 61 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTTAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996121 188996122 188996122 upstr_intron -3 -0.0317460317460317 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTTAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 1781 4145 0.986850160439571 0.983469080411619 0.985159620425595 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0874161792021931 0.0627202865012969 0.809222942484979 0.91009138757385 NA 0.075068232851745 NA FALSE NA 0 0.101 . splice_region_variant&intron_variant LOW COL3A1 HGNC 2201 ENST00000317840 22/41 1 NA TCA C,T 2.471e-05 2:188996122 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 splice_region_variant 1.443412 0.92065 0.17423 0.061011 0.747689209071235 0.314049 0.999999998393609 TRUE 1.21931e-05 ENSE00001130085_008 ENSE00001130085 008 2 189860788 189860957 + 63 54 53 C T 189860859 3558 72 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCTGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996132 188996133 188996133 exon 9 0.166666666666667 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCTGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 1717 801 0.955905733514116 0.773276390767317 0.864591062140717 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0564717522767378 -0.147472403143005 0.809222942484979 0.91009138757385 NA -0.0455003254331335 NA FALSE NA 0 -3.714 rs141091206 synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 23/42 rs141091206&COSM3364440&COSM3364441 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 6.589e-05 2:188996133 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 synonymous_variant 2.343113 0.15126 0.01115 0.553676 0.504408927829991 0 0.999999998393609 TRUE 4.46991e-05 ENSE00001130085_009 ENSE00001130085 009 2 189860788 189860957 + 63 54 53 T G 189860865 3559 78 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGGCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996138 188996139 188996139 exon 15 0.277777777777778 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGGCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 299 3343 0.93171541888542 0.874136695835898 0.902926057360659 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0322814376480417 -0.0466120980744238 0.809222942484979 0.91009138757385 NA -0.00716533021319105 NA FALSE NA 0.061 -0.297 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 23/42 1 unknown(0) NA GTC T,G 8.236e-06 2:188996139 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 missense_variant 1.711276 0.92246 0.77114 0.553676 0.888559232615379 0 0.999999998393609 TRUE 4.06332e-06 ENSE00001130085_010 ENSE00001130085 010 2 189860788 189860957 + 63 54 53 C T 189860899 3560 112 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGTCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996172 188996173 188996173 exon -6 0.907407407407407 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGTCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 4839 149 0.939614720140999 0.898393554948035 0.919004137544517 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0401807389036204 -0.0223552389622874 0.809222942484979 0.91009138757385 NA 0.00891274997066649 NA FALSE NA 1 4.849 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 23/42 1 unknown(0) NA GCC C,T 8.236e-06 2:188996173 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 missense_variant 5.358384 0.99562 0.98823 0.553676 0.995490661352542 0 0.999999998393609 TRUE 4.06237e-06 ENSE00001130085_011 ENSE00001130085 011 2 189860788 189860957 + 63 54 53 T A 189860901 3561 114 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCACCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996174 188996175 188996175 exon -4 0.944444444444444 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCACCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 531 277 0.996244643074402 0.998193698577686 0.997219170826044 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0968106618370238 0.0774449046673636 0.809222942484979 0.91009138757385 NA 0.0871277832521937 NA FALSE NA 0.015 0.236 rs41263751 synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 23/42 rs41263751 1 A:0.0036 A:0.0136 A:0 NA A:0 A:0 A:0 A:0.015 A:0 CTC T,A 0.001268 2:188996175 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 synonymous_variant 1.241494 0.95028 0.59879 0.553676 0.719189962288685 0 0.999999998393609 TRUE 0.000918206 ENSE00001130085_012 ENSE00001130085 012 2 189860788 189860957 + 63 54 53 C T 189860904 3562 117 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCTGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996177 188996178 188996178 exon -1 1 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCTGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 2753 1223 0.84363387135221 0.800442844424826 0.822038357888518 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA -0.0558001098851681 -0.120305949485496 0.809222942484979 0.91009138757385 NA -0.0880530296853319 NA FALSE NA 0 -2.524 . splice_region_variant&synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 23/42 rs373963384 1 NA T:0 T:0.0001 CCG C,T 8.236e-06 2:188996178 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 splice_region_variant 1.455505 0.06649 0.00645 0.553676 0.627324740987684 0 0.999999998393609 TRUE 3.25053e-05 ENSE00001130085_014 ENSE00001130085 014 2 189860788 189860957 + 63 54 53 T A 189860923 3564 136 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAAACTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 188996196 188996197 188996197 downstr_intron 19 1.36538461538462 TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAAACTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT mutant NA NA NA NA NA 1630 838 0.956421508673647 0.94992025275149 0.953170880712569 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA 0.0569875274362692 0.0291714588411682 0.809222942484979 0.91009138757385 NA 0.0430794931387187 NA FALSE NA 0.039 1.336 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 23/41 1 NA ATC T,A 8.236e-06 2:188996197 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130085 intron_variant 0.617243 0.23805 0.45058 0.061011 0.667592775488149 0.0945736 0.999999998393609 TRUE 4.06497e-06 ENSE00001130085_BRK ENSE00001130085 BRK 2 189860788 189860957 + 63 54 53 A,G; T,T NA NA NA TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCTTGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCCCATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT 188996061 188996231 NA NA NA NA NA NA TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCTTGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCCCATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT TGTATGTAGTAATTTTTTATTATTTCATTTTAAATCACCTAACAACTGACTTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGTATGTACATTTTTAAAATCTCATTTTAAAAGGCCAGTTAAAATGGAATGTAT control NA NA NA NA NA 3910 1817 0.0287700258369813 0.0122718232123239 0.0205209245246526 0.850148477192326 0.768297407777633 0.899433981237378 0.920748793910322 NA NA -0.870663955400397 -0.908476970697998 0.809222942484979 0.91009138757385 NA -0.889570463049198 NA TRUE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130085 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130103_000 ENSE00001130103 000 2 189859204 189859373 + 63 54 53 NA NA NA NA NA ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 NA NA NA NA NA NA ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT natural 280 382 0.838164387645749 0.841294314699158 0.839729351172454 2628 5807 0.88141133194023 0.809931657979943 0.845671494960087 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 0 0 0 0 0.839729351172454 0.845671494960087 0 0 0 FALSE FALSE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130103 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130103_001 ENSE00001130103 001 2 189859204 189859373 + 63 54 53 T C 189859217 3516 14 ACTGGTGATGATTCGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994490 188994491 188994491 upstr_intron -50 -0.777777777777778 ACTGGTGATGATTCGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 682 619 0.805799808068452 0.944781285464866 0.875290546766659 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA -0.0756115238717778 0.134849627484923 0.839729351172454 0.845671494960087 NA 0.0296190518065724 NA FALSE NA 0.035 1.329 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 18/41 1 NA TTG T,C 8.236e-06 2:188994491 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.050392 0.2396 0.17817 0.061011 0.595911042219955 0.116879 0.999999998393609 TRUE 4.07388e-06 ENSE00001130103_002 ENSE00001130103 002 2 189859204 189859373 + 63 54 53 C A 189859224 3517 21 ACTGGTGATGATTTGTTAGTAGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994497 188994498 188994498 upstr_intron -43 -0.666666666666667 ACTGGTGATGATTTGTTAGTAGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 106 2540 0.95000792053363 0.93090416349378 0.940456042013705 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0685965885933999 0.120972505513836 0.839729351172454 0.845671494960087 NA 0.0947845470536181 NA FALSE NA 0 -1.182 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188994498 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.113252 0.18232 0.05336 0.061011 0.454556729381667 0.116879 0.999999998393609 TRUE 4.07372e-06 ENSE00001130103_003 ENSE00001130103 003 2 189859204 189859373 + 63 54 53 C T 189859224 3518 21 ACTGGTGATGATTTGTTAGTTGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994497 188994498 188994498 upstr_intron -43 -0.666666666666667 ACTGGTGATGATTTGTTAGTTGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 755 730 0.964559286886374 0.984011915197815 0.974285601042095 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0831479549461445 0.174080257217872 0.839729351172454 0.845671494960087 NA 0.128614106082008 NA FALSE NA 0 -1.182 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130103 intron_variant 0.106878 0.16296 0.02073 0.061011 0.396853246919136 0.116879 0.999999998393609 TRUE 0.000154801 ENSE00001130103_005 ENSE00001130103 005 2 189859204 189859373 + 63 54 53 C T 189859234 3520 31 ACTGGTGATGATTTGTTAGTCGAATCCTCCTTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994507 188994508 188994508 upstr_intron -33 -0.507936507936508 ACTGGTGATGATTTGTTAGTCGAATCCTCCTTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 556 205 0.995318603822876 0.997357909248923 0.9963382565359 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.113907271882646 0.18742625126898 0.839729351172454 0.845671494960087 NA 0.150666761575813 NA FALSE NA 0 0.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188994508 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.260561 0.23946 0.05059 0.061011 0.611092587198206 0.157295 0.999999998393609 TRUE 4.06967e-06 ENSE00001130103_006 ENSE00001130103 006 2 189859204 189859373 + 63 54 53 C G 189859234 3521 31 ACTGGTGATGATTTGTTAGTCGAATCCTCCGTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994507 188994508 188994508 upstr_intron -33 -0.507936507936508 ACTGGTGATGATTTGTTAGTCGAATCCTCCGTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 85 713 0.978874806544811 0.98983630984381 0.984355558194311 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0974634746045816 0.179904651863867 0.839729351172454 0.845671494960087 NA 0.138684063234224 NA FALSE NA 0 0.42 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130103 intron_variant 0.144483 0.25941 0.19684 0.061011 0.518799874172484 0.157295 0.999999998393609 TRUE 4.06967e-06 ENSE00001130103_007 ENSE00001130103 007 2 189859204 189859373 + 63 54 53 G A 189859238 3522 35 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTATTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994511 188994512 188994512 upstr_intron -29 -0.444444444444444 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTATTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 914 817 0.992002145715242 0.981025170020617 0.986513657867929 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.110590813775012 0.171093512040673 0.839729351172454 0.845671494960087 NA 0.140842162907843 NA FALSE NA 0 0.366 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 18/41 1 NA TGT T,A 8.236e-06 2:188994512 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.290708 0.26584 0.04826 0.061011 0.916685308833419 0.0969417 0.999999998393609 TRUE NA ENSE00001130103_008 ENSE00001130103 008 2 189859204 189859373 + 63 54 53 A T 189859244 3523 41 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCATCCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994517 188994518 188994518 upstr_intron -23 -0.349206349206349 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCATCCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 2960 584 0.937303772998342 0.933591056092342 0.935447414545342 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0558924410581125 0.123659398112398 0.839729351172454 0.845671494960087 NA 0.0897759195852555 NA FALSE NA 0 0.09 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188994518 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.562852 0.24421 0.05044 0.061011 0.805069944700736 0.0969417 0.999999998393609 TRUE 8.1361e-06 ENSE00001130103_010 ENSE00001130103 010 2 189859204 189859373 + 63 54 53 C A 189859246 3525 43 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACAAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994519 188994520 188994520 upstr_intron -21 -0.317460317460317 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACAAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 188 592 0.996894477885596 0.973538452080484 0.98521646498304 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.115483145945366 0.163606794100541 0.839729351172454 0.845671494960087 NA 0.139544970022954 NA FALSE NA 0 -0.871 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 18/41 1 NA CCA C,A 2.471e-05 2:188994520 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.610133 0.25926 0.05453 0.061011 0.797508568869407 0.0969417 0.999999998393609 TRUE 1.22046e-05 ENSE00001130103_011 ENSE00001130103 011 2 189859204 189859373 + 63 54 53 T C 189859254 3526 51 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTCGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994527 188994528 188994528 upstr_intron -13 -0.19047619047619 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTCGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 192 8412 0.157793634431472 0.000527492747886801 0.0791605635896793 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA -0.723617697508758 -0.809404165232056 0.839729351172454 0.845671494960087 NA -0.766510931370407 NA TRUE NA 0.213 1.051 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 18/41 rs369411067 1 NA C:0.0002 C:0 TTG T,C 8.236e-06 2:188994528 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant -0.023899 0.29941 0.38342 0.061011 0.383617289117772 0.21989 0.999999998393609 TRUE NA ENSE00001130103_012 ENSE00001130103 012 2 189859204 189859373 + 63 54 53 T C 189859278 3527 75 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGCAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994551 188994552 188994552 exon 12 0.222222222222222 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGCAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 853 354 0.997307171177387 0.999892422752138 0.998599796964763 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.115895839237158 0.189960764772195 0.839729351172454 0.845671494960087 NA 0.152928302004676 NA FALSE NA 1 1.645 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 19/42 1 NA GTA T,C 8.236e-06 2:188994552 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 synonymous_variant 0.860869 0.98141 0.94539 0.487112 0.750800289396138 0 0.999999998393609 TRUE 4.06676e-06 ENSE00001130103_013 ENSE00001130103 013 2 189859204 189859373 + 63 54 53 A C 189859280 3528 77 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTACGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994553 188994554 188994554 exon 14 0.259259259259259 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTACGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 1113 949 0.955649987453145 0.893964524828404 0.924807256140775 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0742386555129152 0.0840328668484611 0.839729351172454 0.845671494960087 NA 0.0791357611806882 NA FALSE NA 1 3.806 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 19/42 COSM1248844 1 unknown(0) NA AAG A,C 8.236e-06 2:188994554 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 missense_variant 2.847113 0.99037 0.95914 0.487112 0.976096670207337 0 0.999999998393609 TRUE 4.06689e-06 ENSE00001130103_014 ENSE00001130103 014 2 189859204 189859373 + 63 54 53 C T 189859302 3529 99 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCTGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994575 188994576 188994576 exon -19 0.666666666666667 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCTGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 1183 671 0.973526132934684 0.983622173469943 0.978574153202314 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0921148009944541 0.17369051549 0.839729351172454 0.845671494960087 NA 0.132902658242227 NA FALSE NA 0.84 0.113 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 19/42 rs527291598&COSM3783385&COSM3783386 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 8.236e-06 2:188994576 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 synonymous_variant 2.236877 0.91754 0.49035 0.553676 0.662682427174915 0 0.999999998393609 TRUE 4.066e-06 ENSE00001130103_015 ENSE00001130103 015 2 189859204 189859373 + 63 54 53 G A 189859310 3530 107 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACATGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994583 188994584 188994584 exon -11 0.814814814814815 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACATGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 65 979 0.952776233884561 0.962017194618141 0.957396714251351 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0713649019443312 0.152085536638197 0.839729351172454 0.845671494960087 NA 0.111725219291264 NA FALSE NA 1 5.779 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188994584 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 missense_variant 5.803061 0.98046 0.89135 0.553676 0.99824223976326 0 0.999999998393609 TRUE 0.000109766 ENSE00001130103_016 ENSE00001130103 016 2 189859204 189859373 + 63 54 53 G C 189859310 3531 107 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACCTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994583 188994584 188994584 exon -11 0.814814814814815 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACCTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 1198 1218 0.978416744903113 0.976641344421083 0.977529044662098 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.097005412962883 0.16670968644114 0.839729351172454 0.845671494960087 NA 0.131857549702011 NA FALSE NA 1 5.779 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130103 missense_variant 4.542073 0.98446 0.98139 0.553676 0.979951799870574 0 0.999999998393609 TRUE 4.0654e-06 ENSE00001130103_017 ENSE00001130103 017 2 189859204 189859373 + 63 54 53 C T 189859320 3532 117 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGTGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994593 188994594 188994594 exon -1 1 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGTGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 260 1943 0.817699156525224 0.812714727161056 0.81520694184314 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA -0.0637121754150054 0.00278306918111249 0.839729351172454 0.845671494960087 NA -0.0304645531169465 NA FALSE NA 0.003 -1.475 . splice_region_variant&synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 19/42 1 NA GCG C,T 2.471e-05 2:188994594 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 splice_region_variant 1.832358 0.50611 0.00454 0.553676 0.837528669557678 0 0.999999998393609 TRUE 2.84509e-05 ENSE00001130103_019 ENSE00001130103 019 2 189859204 189859373 + 63 54 53 T C 189859326 3534 123 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGCTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994599 188994600 188994600 downstr_intron 6 1.11538461538462 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGCTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 2621 151 0.000114408253552838 0.00550392629107966 0.00280916727231625 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA -0.881296923686677 -0.804427731688864 0.839729351172454 0.845671494960087 NA -0.84286232768777 NA TRUE NA 0.938 4.931 . splice_region_variant&intron_variant LOW COL3A1 HGNC 2201 ENST00000317840 19/41 rs373343032 1 NA C:0.0002 C:0 GTT T,C 1.647e-05 2:188994600 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 splice_region_variant 1.939338 0.9959 0.99311 0.061011 0.968295954698023 0.975575 0.999999998393609 TRUE 2.03211e-05 ENSE00001130103_020 ENSE00001130103 020 2 189859204 189859373 + 63 54 53 T A 189859332 3535 129 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACAGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994605 188994606 188994606 downstr_intron 12 1.23076923076923 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACAGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 834 991 0.873829542402362 0.952754367804615 0.913291955103488 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA -0.00758178953786826 0.142822709824671 0.839729351172454 0.845671494960087 NA 0.0676204601434016 NA FALSE NA 0 -1.483 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 19/41 1 NA CTG T,A 8.236e-06 2:188994606 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.488843 0.28702 0.03952 0.061011 0.61618625805628 0.0666035 0.999999998393609 TRUE 4.06395e-06 ENSE00001130103_021 ENSE00001130103 021 2 189859204 189859373 + 63 54 53 C T 189859334 3536 131 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGTAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 188994607 188994608 188994608 downstr_intron 14 1.26923076923077 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGTAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 773 138 0.978869240875099 0.974990428722969 0.976929834799034 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0974579089348692 0.165058770743026 0.839729351172454 0.845671494960087 NA 0.131258339838948 NA FALSE NA 0 -0.397 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 19/41 1 NA GCA C,T 8.236e-06 2:188994608 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.246655 0.24641 0.11982 0.061011 0.563256790698931 0.0666035 0.999999998393609 TRUE 4.06385e-06 ENSE00001130103_023 ENSE00001130103 023 2 189859204 189859373 + 63 54 53 T C 189859351 3538 148 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTCCTTGAAAAAATGCAACATAATT 188994477 188994647 188994624 188994625 188994625 downstr_intron 31 1.59615384615385 ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTCCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT mutant NA NA NA NA NA 1843 31 0.958083765615772 0.977587913555216 0.967835839585494 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA 0.0766724336755423 0.167656255575273 0.839729351172454 0.845671494960087 NA 0.122164344625407 NA FALSE NA 0.001 0.349 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 19/41 1 NA TTC T,C 8.237e-06 2:188994625 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130103 intron_variant 0.571151 0.98414 0.65562 0.061011 0.561093455103133 0.115349 0.999999998393609 TRUE 8.12896e-06 ENSE00001130103_BRK ENSE00001130103 BRK 2 189859204 189859373 + 63 54 53 A,G; T,T NA NA NA ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTTTGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCCCAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT 188994477 188994647 NA NA NA NA NA NA ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTTTGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCCCAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT ACTGGTGATGATTTGTTAGTCGAATCCTCCCTGTGTTTCAACCAAGACTTTGTTATACTTTAGGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGTAAGTTTTACTGCAACAGATCTGGTTATTTCTTGAAAAAATGCAACATAATT control NA NA NA NA NA 1657 715 0.0131130016185823 0 0.00655650080929115 0.838164387645749 0.841294314699158 0.88141133194023 0.809931657979943 NA NA -0.868298330321647 -0.809931657979943 0.839729351172454 0.845671494960087 NA -0.839114994150795 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130103 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130107_000 ENSE00001130107 000 2 189858919 189859088 + 41 99 30 NA NA NA NA NA ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 NA NA NA NA NA NA ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT natural NA NA NA NA NA 1471 1330 0.973889270908377 0.934692707094444 0.95429098900141 NA NA 0.973889270908377 0.934692707094444 NA NA 0 0 NA 0.95429098900141 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130107 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130107_002 ENSE00001130107 002 2 189858919 189859088 + 41 99 30 G A 189858929 3493 11 ATTCAAGTTCAGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994202 188994203 188994203 upstr_intron -31 -0.731707317073171 ATTCAAGTTCAGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 318 576 0.99631909795354 0.983684611008374 0.990001854480957 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0224298270451638 0.0489919039139302 NA 0.95429098900141 NA 0.035710865479547 NA FALSE NA 0 -0.009 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188994203 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 intron_variant 0.265094 0.25623 0.18352 0.061011 0.515537418042792 0.145889 0.999999998393609 TRUE 2.84442e-05 ENSE00001130107_004 ENSE00001130107 004 2 189858919 189859088 + 41 99 30 T C 189858951 3495 33 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTCGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994224 188994225 188994225 upstr_intron -9 -0.195121951219512 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTCGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 2973 2595 0.992321569053589 0.990093424878565 0.991207496966077 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0184322981452126 0.0554007177841209 NA 0.95429098900141 NA 0.0369165079646668 NA FALSE NA 0 0.437 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 17/41 1 NA TTG T,C 8.236e-06 2:188994225 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 intron_variant 0.171346 0.29815 0.13219 0.061011 0.551031482929477 0.306665 0.999999998393609 TRUE 4.06299e-06 ENSE00001130107_005 ENSE00001130107 005 2 189858919 189859088 + 41 99 30 C T 189858955 3496 37 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTTTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994228 188994229 188994229 upstr_intron -5 -0.0975609756097561 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTTTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 140 41 1 1 1 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0261107290916235 0.0653072929055559 NA 0.95429098900141 NA 0.0457090109985897 NA FALSE NA 0 -0.127 rs189949048 splice_region_variant&intron_variant LOW COL3A1 HGNC 2201 ENST00000317840 17/41 rs189949048 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TCT C,T 2.471e-05 2:188994229 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 splice_region_variant -0.154295 0.11123 0.01198 0.061011 0.367104073315317 0.328729 0.999999998393609 TRUE 1.21952e-05 ENSE00001130107_006 ENSE00001130107 006 2 189858919 189859088 + 41 99 30 C T 189858965 3497 47 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCTGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994238 188994239 188994239 exon 6 0.0606060606060606 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCTGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 136 199 0.8 0.97550935204847 0.887754676024235 NA NA 0.973889270908377 0.934692707094444 NA NA -0.173889270908376 0.0408166449540261 NA 0.95429098900141 NA -0.0665363129771752 NA FALSE NA 0.466 0.057 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 18/42 rs557759394 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CCG C,T 4.118e-05 2:188994239 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 synonymous_variant 1.607785 0.52403 0.04403 0.487112 0.604585620385929 0 0.999999998393609 TRUE 4.47184e-05 ENSE00001130107_007 ENSE00001130107 007 2 189858919 189859088 + 41 99 30 G A 189858966 3498 48 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCACTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994239 188994240 188994240 exon 7 0.0707070707070707 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCACTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 216 295 0.965421900390737 0.950222446550542 0.957822173470639 NA NA 0.973889270908377 0.934692707094444 NA NA -0.00846737051763968 0.0155297394560976 NA 0.95429098900141 NA 0.00353118446922895 NA FALSE NA 0.481 0.885 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 18/42 rs373858715 1 unknown(0) NA A:0 A:0.0001 CGC G,A 1.647e-05 2:188994240 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 missense_variant 3.961859 0.98972 0.95142 0.487112 0.996699664331836 0 0.999999998393609 TRUE 8.12975e-06 ENSE00001130107_008 ENSE00001130107 008 2 189858919 189859088 + 41 99 30 A G 189858993 3499 75 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGGTGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994266 188994267 188994267 exon 34 0.343434343434343 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGGTGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 1407 216 1 0.98277602849266 0.99138801424633 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0261107290916235 0.048083321398216 NA 0.95429098900141 NA 0.0370970252449198 NA FALSE NA 0 0.602 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 18/42 1 unknown(0) NA GAT A,G 8.236e-06 2:188994267 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 missense_variant 0.659782 0.25854 0.20128 0.553676 0.927750614982421 0 0.999999998393609 TRUE 4.06603e-06 ENSE00001130107_011 ENSE00001130107 011 2 189858919 189859088 + 41 99 30 C A 189859002 3502 84 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCAGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994275 188994276 188994276 exon 43 0.434343434343434 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCAGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 757 251 0.951657486118731 0.985639138435795 0.968648312277263 NA NA 0.973889270908377 0.934692707094444 NA NA -0.0222317847896454 0.050946431341351 NA 0.95429098900141 NA 0.0143573232758528 NA FALSE NA 0.983 2.591 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 18/42 1 NA CCG C,A 8.236e-06 2:188994276 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 synonymous_variant 3.045392 0.98796 0.95626 0.553676 0.727950705385378 0 0.999999998393609 TRUE 4.06683e-06 ENSE00001130107_012 ENSE00001130107 012 2 189858919 189859088 + 41 99 30 G A 189859003 3503 85 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCAGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994276 188994277 188994277 exon 44 0.444444444444444 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCAGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 126 372 1 0.986938610361487 0.993469305180744 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0261107290916235 0.0522459032670429 NA 0.95429098900141 NA 0.0391783161793332 NA FALSE NA 1 6.6 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 18/42 rs200446048&COSM1559553&COSM3407405 1 unknown(0) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0.0002 A:0 CGG G,A 4.942e-05 2:188994277 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 missense_variant 5.138611 0.99489 0.99105 0.553676 0.998765237341216 0 0.999999998393609 TRUE 2.84648e-05 ENSE00001130107_013 ENSE00001130107 013 2 189858919 189859088 + 41 99 30 G C 189859004 3504 86 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGCGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994277 188994278 188994278 exon 45 0.454545454545455 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGCGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 231 213 1 1 1 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0261107290916235 0.0653072929055559 NA 0.95429098900141 NA 0.0457090109985897 NA FALSE NA 0.528 -0.1 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 18/42 1 NA GGG G,C 8.236e-06 2:188994278 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 synonymous_variant 1.231244 0.95388 0.75113 0.553676 0.678904873966423 0 0.999999998393609 TRUE 4.06669e-06 ENSE00001130107_014 ENSE00001130107 014 2 189858919 189859088 + 41 99 30 C A 189859012 3505 94 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCAAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994285 188994286 188994286 exon -47 0.535353535353535 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCAAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 47 461 1 0.998078394540514 0.999039197270257 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0261107290916235 0.0633856874460701 NA 0.95429098900141 NA 0.0447482082688468 NA FALSE NA 1 6.041 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 18/42 1 unknown(0) NA CCA C,A 8.237e-06 2:188994286 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 missense_variant 5.203752 0.99498 0.99096 0.553676 0.984093669961749 0 0.999999998393609 TRUE NA ENSE00001130107_018 ENSE00001130107 018 2 189858919 189859088 + 41 99 30 C G 189859027 3509 109 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGGTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994300 188994301 188994301 exon -32 0.686868686868687 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGGTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 775 774 0.997205574913101 0.999746354149219 0.99847596453116 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0233163040047242 0.0650536470547749 NA 0.95429098900141 NA 0.0441849755297495 NA FALSE NA 0.041 3.918 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 18/42 1 unknown(0) NA GCT C,G 1.647e-05 2:188994301 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 missense_variant 3.370933 0.96861 0.8626 0.553676 0.992665326963967 0 0.999999998393609 TRUE 1.21949e-05 ENSE00001130107_019 ENSE00001130107 019 2 189858919 189859088 + 41 99 30 T C 189859034 3510 116 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGCGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994307 188994308 188994308 exon -25 0.757575757575758 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGCGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 602 499 0.992648149506573 0.995369538881537 0.994008844194055 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0187588785981962 0.0606768317870927 NA 0.95429098900141 NA 0.0397178551926445 NA FALSE NA 0 -0.287 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 18/42 1 NA GTG T,C 8.236e-06 2:188994308 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 synonymous_variant 0.295761 0.27286 0.11841 0.553676 0.642590082217947 0 0.999999998393609 TRUE 4.06504e-06 ENSE00001130107_020 ENSE00001130107 020 2 189858919 189859088 + 41 99 30 G A 189859046 3511 128 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTACGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994319 188994320 188994320 exon -13 0.878787878787879 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTACGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 152 580 1 0.983046137647105 0.991523068823552 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0261107290916235 0.0483534305526605 NA 0.95429098900141 NA 0.037232079822142 NA FALSE NA 0 -0.105 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188994320 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 synonymous_variant 0.931752 0.24288 0.05074 0.553676 0.714889343480022 0 0.999999998393609 TRUE 2.4396e-05 ENSE00001130107_022 ENSE00001130107 022 2 189858919 189859088 + 41 99 30 A T 189859049 3513 131 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGTGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT 188994192 188994362 188994322 188994323 188994323 exon -10 0.909090909090909 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGTGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 327 174 0.993266289572098 1 0.996633144786049 NA NA 0.973889270908377 0.934692707094444 NA NA 0.019377018663721 0.0653072929055559 NA 0.95429098900141 NA 0.0423421557846385 NA FALSE NA 1 1.608 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 18/42 rs574133047 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GAG A,T 8.236e-06 2:188994323 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 synonymous_variant 0.3577 0.98518 0.96659 0.553676 0.687051739250237 0 0.999999998393609 TRUE 4.06577e-06 ENSE00001130107_024 ENSE00001130107 024 2 189858919 189859088 + 41 99 30 T A 189859073 3515 155 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTATTTTCTCTGTTGACT 188994192 188994362 188994346 188994347 188994347 downstr_intron 15 1.51724137931034 ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTATTTTCTCTGTTGACT ATTCAAGTTCGGCTAATATAGTGTCTTTGGTTTGTTCTTAGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGTAAGTTGCCTTGTTTTTTCTCTGTTGACT mutant NA NA NA NA NA 41 2257 1 0.997093943555378 0.998546971777689 NA NA 0.973889270908377 0.934692707094444 NA NA 0.0261107290916235 0.0624012364609334 NA 0.95429098900141 NA 0.0442559827762785 NA FALSE NA 0 -1.323 rs2271679 intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 18/41 rs2271679 1 A:0.1625 A:0.4607 A:0.0519 NA A:0.0942 A:0.0219 A:0.0532 A:0.3703 A:0.0231 TTT T,A 0.064 2:188994347 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130107 intron_variant 0.481354 0.23165 0.05049 0.061011 0.669834718119286 0.0666469 0.999999998393609 TRUE 0.0555176 ENSE00001130125_000 ENSE00001130125 000 2 189857550 189857719 + 63 54 53 NA NA NA NA NA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 NA NA NA NA NA NA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA natural NA NA NA NA NA 4493 2426 0.974152437496298 0.975132758130275 0.974642597813286 NA NA 0.974152437496298 0.975132758130275 NA NA 0 0 NA 0.974642597813286 NA 0 NA FALSE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130125 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130125_001 ENSE00001130125 001 2 189857550 189857719 + 63 54 53 T C 189857565 3470 16 ACTAGTATGTCAGCTCTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992838 188992839 188992839 upstr_intron -48 -0.746031746031746 ACTAGTATGTCAGCTCTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 1399 2049 0.918968806136759 0.996526998072025 0.957747902104392 NA NA 0.974152437496298 0.975132758130275 NA NA -0.0551836313595396 0.0213942399417508 NA 0.974642597813286 NA -0.0168946957088944 NA FALSE NA 0.028 1.889 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 14/41 1 NA TTT T,C 4.942e-05 2:188992839 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant -0.036221 0.23451 0.34987 0.061011 0.442275905748318 0.0832456 0.999999998393609 TRUE 4.06944e-05 ENSE00001130125_002 ENSE00001130125 002 2 189857550 189857719 + 63 54 53 T C 189857575 3471 26 ACTAGTATGTCAGCTTTCATTTAGTCGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992848 188992849 188992849 upstr_intron -38 -0.587301587301587 ACTAGTATGTCAGCTTTCATTTAGTCGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 727 234 0.881129963365475 0.999323533659657 0.940226748512566 NA NA 0.974152437496298 0.975132758130275 NA NA -0.0930224741308234 0.0241907755293828 NA 0.974642597813286 NA -0.0344158493007203 NA FALSE NA 0 0.93 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 14/41 1 NA TTG T,C 2.471e-05 2:188992849 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.28696 0.32078 0.2375 0.061011 0.609070734389853 0.610851 0.999999998393609 TRUE 3.66086e-05 ENSE00001130125_003 ENSE00001130125 003 2 189857550 189857719 + 63 54 53 C T 189857585 3472 36 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGTTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992858 188992859 188992859 upstr_intron -28 -0.428571428571429 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGTTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 352 267 0.977488513124601 1 0.988744256562301 NA NA 0.974152437496298 0.975132758130275 NA NA 0.00333607562830285 0.0248672418697253 NA 0.974642597813286 NA 0.0141016587490141 NA FALSE NA 0 -0.616 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 14/41 1 NA GCT C,T 3.295e-05 2:188992859 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.420595 0.19223 0.04276 0.061011 0.703311842529516 0.112686 0.999999998393609 TRUE 1.62628e-05 ENSE00001130125_004 ENSE00001130125 004 2 189857550 189857719 + 63 54 53 T C 189857594 3473 45 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAACTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992867 188992868 188992868 upstr_intron -19 -0.285714285714286 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAACTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 1011 119 0.996991204170184 1 0.998495602085092 NA NA 0.974152437496298 0.975132758130275 NA NA 0.022838766673886 0.0248672418697253 NA 0.974642597813286 NA 0.0238530042718056 NA FALSE NA 0.221 1.48 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 14/41 1 NA ATT T,C 8.237e-06 2:188992868 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.216235 0.72062 0.14866 0.061011 0.738297350755508 0.112686 0.999999998393609 TRUE 4.06448e-06 ENSE00001130125_005 ENSE00001130125 005 2 189857550 189857719 + 63 54 53 T A 189857595 3474 46 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATAGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992868 188992869 188992869 upstr_intron -18 -0.26984126984127 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATAGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 1896 10 0.989881522056774 0.949376773278767 0.969629147667771 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0157290845604763 -0.0257559848515075 NA 0.974642597813286 NA -0.00501345014551563 NA FALSE NA 0.081 0.328 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 14/41 rs369483870 1 NA A:0.0002 A:0 TTG T,A 1.647e-05 2:188992869 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.986378 0.23783 0.11766 0.061011 0.713240283556867 0.1644 0.999999998393609 TRUE 8.12883e-06 ENSE00001130125_007 ENSE00001130125 007 2 189857550 189857719 + 63 54 53 T A 189857627 3476 78 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCACCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992900 188992901 188992901 exon 15 0.277777777777778 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCACCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 65 515 1 0.986242070032466 0.993121035016233 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0258475625037018 0.011109311902191 NA 0.974642597813286 NA 0.0184784372029464 NA FALSE NA 0.027 -0.9 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 15/42 1 NA CTC T,A 8.236e-06 2:188992901 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 synonymous_variant 0.712534 0.1725 0.16326 0.553676 0.555848815325624 0 0.999999998393609 TRUE 4.06237e-06 ENSE00001130125_008 ENSE00001130125 008 2 189857550 189857719 + 63 54 53 C T 189857639 3477 90 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCTGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992912 188992913 188992913 exon 27 0.5 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCTGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 44 283 0.996498724054711 1 0.998249362027355 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0223462865584123 0.0248672418697253 NA 0.974642597813286 NA 0.0236067642140688 NA FALSE NA 0.995 0.475 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 15/42 rs373392096 1 NA T:0 T:0.0001 CCG C,T 2.471e-05 2:188992913 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 synonymous_variant 2.73438 0.98116 0.80487 0.553676 0.563265513230449 0 0.999999998393609 TRUE 8.12394e-06 ENSE00001130125_009 ENSE00001130125 009 2 189857550 189857719 + 63 54 53 C T 189857654 3478 105 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCTCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992927 188992928 188992928 exon -13 0.777777777777778 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCTCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 580 55 0.99880819007437 0.988102214507231 0.993455202290801 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0246557525780722 0.0129694563769567 NA 0.974642597813286 NA 0.0188126044775144 NA FALSE NA 0 -0.911 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 15/42 1 NA CCC C,T 1.647e-05 2:188992928 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 synonymous_variant 2.225885 0.96019 0.09134 0.553676 0.635084636654461 0 0.999999998393609 TRUE 3.65622e-05 ENSE00001130125_010 ENSE00001130125 010 2 189857550 189857719 + 63 54 53 C T 189857662 3479 113 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGTTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992935 188992936 188992936 exon -5 0.925925925925926 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGTTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 92 198 1 0.999200409664826 0.999600204832413 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0258475625037018 0.0240676515345516 NA 0.974642597813286 NA 0.0249576070191267 NA FALSE NA 1 2.614 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 15/42 1 unknown(0) NA GCT C,T 8.236e-06 2:188992936 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 missense_variant 4.171144 0.99083 0.95508 0.553676 0.996319525552618 0 0.999999998393609 TRUE 4.06227e-06 ENSE00001130125_011 ENSE00001130125 011 2 189857550 189857719 + 63 54 53 T C 189857678 3480 129 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGCTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992951 188992952 188992952 downstr_intron 12 1.23076923076923 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGCTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 132 2532 1 0.999123448005534 0.999561724002767 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0258475625037018 0.0239906898752595 NA 0.974642597813286 NA 0.0249191261894807 NA FALSE NA 0.019 0.077 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 15/41 1 NA GTT T,C 8.236e-06 2:188992952 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant -0.030943 0.26927 0.02866 0.061011 0.404413623712403 0.156508 0.999999998393609 TRUE 4.06352e-06 ENSE00001130125_012 ENSE00001130125 012 2 189857550 189857719 + 63 54 53 T C 189857692 3481 143 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGCATAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992965 188992966 188992966 downstr_intron 26 1.5 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGCATAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 708 648 0.999883689747643 0.999755860088354 0.999819774917998 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0257312522513451 0.0246231019580789 NA 0.974642597813286 NA 0.025177177104712 NA FALSE NA 0 0.075 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 15/41 1 NA GTA T,C 1.647e-05 2:188992966 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.252129 0.27381 0.10007 0.061011 0.539268617061596 0.156508 0.999999998393609 TRUE 1.21962e-05 ENSE00001130125_013 ENSE00001130125 013 2 189857550 189857719 + 63 54 53 A G 189857693 3482 144 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTGTAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992966 188992967 188992967 downstr_intron 27 1.51923076923077 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTGTAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 115 21 0.996365537954504 1 0.998182768977252 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0222131004582057 0.0248672418697253 NA 0.974642597813286 NA 0.0235401711639655 NA FALSE NA 0 0.319 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 15/41 1 NA TAT A,G 1.647e-05 2:188992967 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.228011 0.27344 0.08721 0.061011 0.672575338165539 0.156508 0.999999998393609 TRUE 1.62578e-05 ENSE00001130125_014 ENSE00001130125 014 2 189857550 189857719 + 63 54 53 T G 189857694 3483 145 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTAGAAAAATATCTTGGAGGCAAGAGAAA 188992823 188992993 188992967 188992968 188992968 downstr_intron 28 1.53846153846154 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTAGAAAAATATCTTGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 19 460 1 1 1 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0258475625037018 0.0248672418697253 NA 0.974642597813286 NA 0.0253574021867136 NA FALSE NA 0 0.492 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 15/41 1 NA ATA T,G 1.647e-05 2:188992968 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.351505 0.44032 0.14098 0.061011 0.680263515143533 0.156508 0.999999998393609 TRUE 8.12955e-06 ENSE00001130125_019 ENSE00001130125 019 2 189857550 189857719 + 63 54 53 T C 189857705 3488 156 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTCGGAGGCAAGAGAAA 188992823 188992993 188992978 188992979 188992979 downstr_intron 39 1.75 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTCGGAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 226 1126 0.998164691134756 0.997313583768678 0.997739137451717 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0240122536384574 0.0221808256384033 NA 0.974642597813286 NA 0.0230965396384303 NA FALSE NA 0 0.975 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 15/41 1 NA TTG T,C 8.236e-06 2:188992979 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.218231 0.78852 0.29916 0.061011 0.716326447313466 0.156508 0.999999998393609 TRUE 4.06693e-06 ENSE00001130125_020 ENSE00001130125 020 2 189857550 189857719 + 63 54 53 G A 189857707 3489 158 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGAAGGCAAGAGAAA 188992823 188992993 188992980 188992981 188992981 downstr_intron 41 1.78846153846154 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGAAGGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 301 95 0.994685869722065 0.999598393899595 0.99714213181083 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0205334322257665 0.02446563576932 NA 0.974642597813286 NA 0.0224995339975433 NA FALSE NA 0 -0.114 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 15/41 1 NA GGA G,A 8.236e-06 2:188992981 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.301504 0.23503 0.0558 0.061011 0.67062751210918 0.156508 0.999999998393609 TRUE 8.13617e-06 ENSE00001130125_021 ENSE00001130125 021 2 189857550 189857719 + 63 54 53 G T 189857709 3490 160 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGATGCAAGAGAAA 188992823 188992993 188992982 188992983 188992983 downstr_intron 43 1.82692307692308 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGATGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 626 17 0.996307487497827 1 0.998153743748914 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0221550500015291 0.0248672418697253 NA 0.974642597813286 NA 0.0235111459356272 NA FALSE NA 0 0.067 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188992983 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130125 intron_variant 0.245896 0.26426 0.15313 0.061011 0.574811733821833 0.156508 0.999999998393609 TRUE 0.00122043 ENSE00001130125_022 ENSE00001130125 022 2 189857550 189857719 + 63 54 53 G A 189857709 3491 160 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAAGCAAGAGAAA 188992823 188992993 188992982 188992983 188992983 downstr_intron 43 1.82692307692308 ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAAGCAAGAGAAA ACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAGGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGTAAACATGTGTTTCTATAGAAGGGTATAAAAATATCTTGGAGGCAAGAGAAA mutant NA NA NA NA NA 310 199 1 1 1 NA NA 0.974152437496298 0.975132758130275 NA NA 0.0258475625037018 0.0248672418697253 NA 0.974642597813286 NA 0.0253574021867136 NA FALSE NA 0 0.067 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130125 intron_variant 0.430029 0.2748 0.14462 0.061011 0.592191558309474 0.156508 0.999999998393609 TRUE 2.03406e-05 ENSE00001130149_000 ENSE00001130149 000 2 189854759 189854928 + 63 54 53 NA NA NA NA NA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 NA NA NA NA NA NA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA natural 663 962 0.85 0.847691289658005 0.848845644829003 13782 11047 0.586418001777168 0.703028582720501 0.644723292248834 0.85 0.847691289658005 0.586418001777168 0.703028582720501 0 0 0 0 0.848845644829003 0.644723292248834 0 0 0 FALSE FALSE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130149 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130149_001 ENSE00001130149 001 2 189854759 189854928 + 63 54 53 A G 189854771 3416 13 TTATTGGCTACAGTGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990044 188990045 188990045 upstr_intron -51 -0.793650793650794 TTATTGGCTACAGTGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1119 966 0.780782326014438 0.822997141687617 0.801889733851027 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.19436432423727 0.119968558967116 0.848845644829003 0.644723292248834 NA 0.157166441602193 NA FALSE NA 0 -2.079 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 8/41 1 NA AAT A,G 3.295e-05 2:188990045 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 0.154832 0.1411 0.01988 0.061011 0.40140733340431 0.0946271 0.999999998393609 TRUE 2.04461e-05 ENSE00001130149_002 ENSE00001130149 002 2 189854759 189854928 + 63 54 53 T C 189854779 3417 21 TTATTGGCTACAATGTATTTCCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990052 188990053 188990053 upstr_intron -43 -0.666666666666667 TTATTGGCTACAATGTATTTCCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 2792 5695 0.800990971145833 0.860294765082562 0.830642868114197 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.214572969368665 0.157266182362061 0.848845644829003 0.644723292248834 NA 0.185919575865363 NA FALSE NA 0 0.827 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 8/41 1 NA TTC T,C 8.237e-06 2:188990053 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 0.239112 0.2209 0.0484 0.061011 0.563904301304934 0.0946271 0.999999998393609 TRUE 8.1686e-06 ENSE00001130149_003 ENSE00001130149 003 2 189854759 189854928 + 63 54 53 G A 189854791 3418 33 TTATTGGCTACAATGTATTTTCTCATACATGAACACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990064 188990065 188990065 upstr_intron -31 -0.476190476190476 TTATTGGCTACAATGTATTTTCTCATACATGAACACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 597 1541 0.89868263752947 0.908064188055137 0.903373412792303 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.312264635752302 0.205035605334636 0.848845644829003 0.644723292248834 NA 0.258650120543469 NA FALSE NA 0 0.02 rs41272819 intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 8/41 rs41272819 1 NA AGC G,A 7.413e-05 2:188990065 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 0.029444 0.20638 0.08539 0.061011 0.558869436887584 0.0937674 0.999999998393609 TRUE 6.93283e-05 ENSE00001130149_004 ENSE00001130149 004 2 189854759 189854928 + 63 54 53 C T 189854792 3419 34 TTATTGGCTACAATGTATTTTCTCATACATGAGTACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990065 188990066 188990066 upstr_intron -30 -0.46031746031746 TTATTGGCTACAATGTATTTTCTCATACATGAGTACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 447 1890 0.946095815191695 0.957558229980389 0.951827022586042 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.359677813414527 0.254529647259888 0.848845644829003 0.644723292248834 NA 0.307103730337208 NA FALSE NA 0 -0.325 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 8/41 rs372299723 1 NA T:0 T:0.0001 GCA C,T 8.237e-06 2:188990066 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 0.099762 0.18465 0.08996 0.061011 0.570124553827462 0.0937674 0.999999998393609 TRUE 8.15614e-06 ENSE00001130149_005 ENSE00001130149 005 2 189854759 189854928 + 63 54 53 C T 189854794 3420 36 TTATTGGCTACAATGTATTTTCTCATACATGAGCATCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990067 188990068 188990068 upstr_intron -28 -0.428571428571429 TTATTGGCTACAATGTATTTTCTCATACATGAGCATCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 2125 1552 0.73792478750191 0.843886197001328 0.790905492251619 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.151506785724742 0.140857614280827 0.848845644829003 0.644723292248834 NA 0.146182200002784 NA FALSE NA 0 -0.683 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 8/41 rs375284698 1 NA T:0.0002 T:0 ACC C,T 8.237e-06 2:188990068 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 0.182443 0.19998 0.05631 0.061011 0.572747887435269 0.0937674 0.999999998393609 TRUE NA ENSE00001130149_006 ENSE00001130149 006 2 189854759 189854928 + 63 54 53 C T 189854798 3421 40 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTATGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990071 188990072 188990072 upstr_intron -24 -0.365079365079365 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTATGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 131 491 0.828629866362039 0.792186950670108 0.810408408516073 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.242211864584871 0.089158367949607 0.848845644829003 0.644723292248834 NA 0.165685116267239 NA FALSE NA 0 -1.101 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188990072 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant -0.008971 0.12128 0.00384 0.061011 0.714691777167779 0.0937674 0.999999998393609 TRUE 0.000211925 ENSE00001130149_007 ENSE00001130149 007 2 189854759 189854928 + 63 54 53 C G 189854798 3422 40 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTAGGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990071 188990072 188990072 upstr_intron -24 -0.365079365079365 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTAGGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1227 1830 0.00946786472665546 0.0254200312322494 0.0174439479794524 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA -0.576950137050512 -0.677608551488251 0.848845644829003 0.644723292248834 NA -0.627279344269382 NA TRUE NA 0 -1.101 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130149 intron_variant -0.16844 0.21869 0.0959 0.061011 0.585747138081595 0.0937674 0.999999998393609 TRUE 2.03774e-05 ENSE00001130149_008 ENSE00001130149 008 2 189854759 189854928 + 63 54 53 G A 189854799 3423 41 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACATATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990072 188990073 188990073 upstr_intron -23 -0.349206349206349 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACATATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 522 1391 0.603099354213373 0.797413293527485 0.700256323870429 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.0166813524362055 0.0943847108069842 0.848845644829003 0.644723292248834 NA 0.0555330316215948 NA FALSE NA 0 -3.696 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188990073 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 0.339351 0.1783 0.00818 0.061011 0.785682480234314 0.0937674 0.999999998393609 TRUE 8.15042e-06 ENSE00001130149_009 ENSE00001130149 009 2 189854759 189854928 + 63 54 53 G C 189854799 3424 41 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACCTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990072 188990073 188990073 upstr_intron -23 -0.349206349206349 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACCTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 862 725 0.881137299814205 0.824449876471674 0.85279358814294 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.294719298037037 0.121421293751173 0.848845644829003 0.644723292248834 NA 0.208070295894105 NA FALSE NA 0 -3.696 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130149 intron_variant -0.093981 0.20426 0.04164 0.061011 0.658038583284129 0.0937674 0.999999998393609 TRUE 4.07521e-06 ENSE00001130149_010 ENSE00001130149 010 2 189854759 189854928 + 63 54 53 T C 189854807 3425 49 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTCATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990080 188990081 188990081 upstr_intron -15 -0.222222222222222 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTCATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1620 1257 0.71856211880647 0.810348545119077 0.764455331962773 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.132144117029302 0.107319962398576 0.848845644829003 0.644723292248834 NA 0.119732039713939 NA FALSE NA 0.06 0.061 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 8/41 1 NA TTA T,C 8.237e-06 2:188990081 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 1.806626 0.26555 0.07784 0.061011 0.814538348542391 0.288125 0.999999998393609 TRUE 4.07375e-06 ENSE00001130149_011 ENSE00001130149 011 2 189854759 189854928 + 63 54 53 T C 189854813 3426 55 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCCCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990086 188990087 188990087 upstr_intron -9 -0.126984126984127 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCCCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 461 511 0.00195889794167122 0.00206323870030496 0.00201106832098809 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA -0.584459103835497 -0.700965344020196 0.848845644829003 0.644723292248834 NA -0.642712223927846 NA TRUE NA 0.001 2.601 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 8/41 1 NA CTC T,C 0.0001071 2:188990087 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 2.200505 0.4239 0.561 0.061011 0.874668146980848 0.795575 0.999999998393609 TRUE 5.70218e-05 ENSE00001130149_013 ENSE00001130149 013 2 189854759 189854928 + 63 54 53 A G 189854824 3428 66 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGGGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990097 188990098 188990098 exon 3 0.0555555555555556 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGGGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1982 2357 0.947023058079276 0.771577874310763 0.859300466195019 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.360605056302108 0.0685492915902619 0.848845644829003 0.644723292248834 NA 0.214577173946185 NA FALSE NA 0.955 0.211 . splice_region_variant&synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 9/42 1 NA GAG A,G 8.236e-06 2:188990098 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 splice_region_variant 2.011567 0.96099 0.77693 0.553676 0.873093147921886 0 0.999999998393609 TRUE 4.07153e-06 ENSE00001130149_014 ENSE00001130149 014 2 189854759 189854928 + 63 54 53 A C 189854826 3429 68 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGCATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990099 188990100 188990100 exon 5 0.0925925925925926 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGCATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 876 2706 0.949587037043928 0.952588509313476 0.951087773178702 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.36316903526676 0.249559926592975 0.848845644829003 0.644723292248834 NA 0.306364480929868 NA FALSE NA 1 8.606 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 9/42 1 unknown(0) NA GAA A,C 8.236e-06 2:188990100 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 missense_variant 3.566546 0.99493 0.99821 0.553676 0.992196497237357 0 0.999999998393609 TRUE 4.07113e-06 ENSE00001130149_015 ENSE00001130149 015 2 189854759 189854928 + 63 54 53 G T 189854835 3430 77 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTATACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990108 188990109 188990109 exon 14 0.259259259259259 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTATACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 3436 2244 0.929695050488608 0.918023140463601 0.923859095476104 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.34327704871144 0.2149945577431 0.848845644829003 0.644723292248834 NA 0.27913580322727 NA FALSE NA 1 5.708 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 9/42 rs554901115 1 unknown(0) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 AGA G,T 8.236e-06 2:188990109 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 missense_variant 5.561495 0.99154 0.99061 0.553676 0.978986432405737 0 0.999999998393609 TRUE 1.22134e-05 ENSE00001130149_016 ENSE00001130149 016 2 189854759 189854928 + 63 54 53 C T 189854837 3431 79 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGATCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990110 188990111 188990111 exon 16 0.296296296296296 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGATCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1423 4768 0.804965302380819 0.81833484388723 0.811650073134024 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.218547300603651 0.115306261166729 0.848845644829003 0.644723292248834 NA 0.16692678088519 NA FALSE NA 1 2.203 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 9/42 1 unknown(0) NA ACC C,T 2.471e-05 2:188990111 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 missense_variant 3.828127 0.98381 0.96512 0.553676 0.993912408950981 0 0.999999998393609 TRUE 2.44258e-05 ENSE00001130149_017 ENSE00001130149 017 2 189854759 189854928 + 63 54 53 C G 189854839 3432 81 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCGGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990112 188990113 188990113 exon 18 0.333333333333333 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCGGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 778 625 0.8 0.832279150969287 0.816139575484643 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.213581998222832 0.129250568248786 0.848845644829003 0.644723292248834 NA 0.171416283235809 NA FALSE NA 0 -4.159 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 9/42 COSM1013937 1 NA CCG C,G 1.647e-05 2:188990113 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 synonymous_variant 1.560333 0.07743 0.05883 0.553676 0.519888194558097 0 0.999999998393609 TRUE 1.22134e-05 ENSE00001130149_018 ENSE00001130149 018 2 189854759 189854928 + 63 54 53 G A 189854844 3433 86 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACAACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990117 188990118 188990118 exon 23 0.425925925925926 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACAACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 701 858 0.783540504027869 0.647711183201666 0.715625843614767 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.197122502250701 -0.0553173995188353 0.848845644829003 0.644723292248834 NA 0.0709025513659327 NA FALSE NA 0.977 4.93 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 9/42 1 unknown(0) NA CGA G,A 8.236e-06 2:188990118 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 missense_variant 4.778389 0.98956 0.96857 0.553676 0.998624004553925 0 0.999999998393609 TRUE 8.14173e-06 ENSE00001130149_019 ENSE00001130149 019 2 189854759 189854928 + 63 54 53 G A 189854856 3434 98 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCAAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990129 188990130 188990130 exon -20 0.648148148148148 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCAAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 844 613 0.717385582802084 0.796742265629307 0.757063924215695 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.130967581024916 0.0937136829088057 0.848845644829003 0.644723292248834 NA 0.112340631966861 NA FALSE NA 1 9.098 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 9/42 rs372025063 1 unknown(0) NA A:0 A:0.0001 CGA G,A 8.237e-06 2:188990130 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 missense_variant 5.353862 0.99588 0.99818 0.553676 0.998763215989006 0 0.999999998393609 TRUE 4.07017e-06 ENSE00001130149_020 ENSE00001130149 020 2 189854759 189854928 + 63 54 53 A G 189854875 3435 117 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCGGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990148 188990149 188990149 exon -1 1 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCGGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1020 834 0.997743084212466 0.981395402266596 0.989569243239531 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.411325082435299 0.278366819546095 0.848845644829003 0.644723292248834 NA 0.344845950990697 NA FALSE NA 0.996 0.46 . splice_region_variant&synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 9/42 1 NA CAG A,G 8.237e-06 2:188990149 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 splice_region_variant 1.606412 0.96237 0.41448 0.553676 0.766804343776275 0 0.999999998393609 TRUE 4.07057e-06 ENSE00001130149_021 ENSE00001130149 021 2 189854759 189854928 + 63 54 53 C A 189854885 3436 127 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTAAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990158 188990159 188990159 downstr_intron 10 1.19230769230769 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTAAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1907 673 0.798965981789231 0.806605322888405 0.802785652338818 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.212547980012063 0.103576740167904 0.848845644829003 0.644723292248834 NA 0.158062360089983 NA FALSE NA 0 -0.852 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 9/41 1 NA TCA C,A 8.237e-06 2:188990159 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 1.949694 0.25801 0.04509 0.061011 0.783397992588094 0.418109 0.999999998393609 TRUE 4.07206e-06 ENSE00001130149_024 ENSE00001130149 024 2 189854759 189854928 + 63 54 53 T C 189854890 3439 132 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCACCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990163 188990164 188990164 downstr_intron 15 1.28846153846154 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCACCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1313 576 0.716621069232879 0.8 0.75831053461644 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.130203067455712 0.0969714172794991 0.848845644829003 0.644723292248834 NA 0.113587242367605 NA FALSE NA 0 0.664 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 9/41 1 NA ATC T,C 3.295e-05 2:188990164 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 1.525697 0.26469 0.1908 0.061011 0.718083934295986 0.286741 0.999999998393609 TRUE 4.88739e-05 ENSE00001130149_025 ENSE00001130149 025 2 189854759 189854928 + 63 54 53 T C 189854895 3440 137 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAACAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990168 188990169 188990169 downstr_intron 20 1.38461538461538 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAACAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 166 1671 0.776370340540579 0.798954448785016 0.787662394662797 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.189952338763411 0.0959258660645149 0.848845644829003 0.644723292248834 NA 0.142939102413963 NA FALSE NA 0 0.152 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 9/41 1 NA ATA T,C 8.238e-06 2:188990169 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 1.226557 0.28416 0.31081 0.061011 0.73401649927219 0.286741 0.999999998393609 TRUE 4.07501e-06 ENSE00001130149_026 ENSE00001130149 026 2 189854759 189854928 + 63 54 53 A C 189854902 3441 144 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTACTTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 188990175 188990176 188990176 downstr_intron 27 1.51923076923077 TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTACTTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA mutant NA NA NA NA NA 1099 583 0.785764545002618 0.922518649608149 0.854141597305383 0.85 0.847691289658005 0.586418001777168 0.703028582720501 NA NA 0.19934654322545 0.219490066887648 0.848845644829003 0.644723292248834 NA 0.209418305056549 NA FALSE NA 0 -1.005 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 9/41 1 NA AAT A,C 8.238e-06 2:188990176 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001130149 intron_variant 0.085865 0.17055 0.04516 0.061011 0.567254964680955 0.0937674 0.999999998393609 TRUE NA ENSE00001130149_BRK ENSE00001130149 BRK 2 189854759 189854928 + 63 54 53 A,G; T,T NA NA NA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTTTGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCACCGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA 188990032 188990202 NA NA NA NA NA NA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTTTGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCACCGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA TTATTGGCTACAATGTATTTTCTCATACATGAGCACCTACGTATTCTTTATTTCTCTACCTAGGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGTGAGTCTTCAGCATCTAATAAATTAATTGGAATAATCTTAGCTTGAAAACTA control 95 179 0 0 0 530 600 0.0590879525649029 0.0479255041598189 0.0535067283623609 0.85 0.847691289658005 0.586418001777168 0.703028582720501 -0.85 -0.847691289658005 -0.527330049212265 -0.655103078560682 0.848845644829003 0.644723292248834 -0.848845644829003 -0.591216563886474 0.257629080942529 TRUE TRUE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001130149 NA NA NA NA NA NA NA 0.999999998393609 TRUE NA ENSE00001130164_000 ENSE00001130164 000 2 162223935 162224104 + 54 72 44 NA NA NA NA NA TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCTACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT 161367423 161367593 NA NA NA NA NA NA TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCTACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCTACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT natural NA NA NA NA NA 1780 2220 0.998788407357794 0.93142068563301 0.965104546495402 NA NA 0.998788407357794 0.93142068563301 NA NA 0 0 NA 0.965104546495402 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD14 NA NA NA ENSG00000115233 ENSE00001130164 NA NA NA NA NA NA NA 0.790099057421391 FALSE NA ENSE00001130164_005 ENSE00001130164 005 2 162223935 162224104 + 54 72 44 T C 162223997 3090 63 TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCCACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT 161367423 161367593 161367485 161367486 161367486 exon 9 0.125 TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCCACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCTACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT mutant NA NA NA NA NA 41 32 1 1 1 NA NA 0.998788407357794 0.93142068563301 NA NA 0.00121159264220649 0.0685793143669901 NA 0.965104546495402 NA 0.0348954535045983 NA FALSE NA 0.995 0.116 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:161367486 PSMD14 HGNC Symbol protein_coding 103679 ENSG00000115233 ENSE00001130164 synonymous_variant 0.54349 0.97069 0.87894 0.732398 0.668435320328635 0 0.790099057421391 FALSE 0 ENSE00001130164_006 ENSE00001130164 006 2 162223935 162224104 + 54 72 44 T G 162223997 3091 63 TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCGACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT 161367423 161367593 161367485 161367486 161367486 exon 9 0.125 TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCGACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT TAAACTCATAAACTCTGTGTTTGTTTTAATAATAATTGATGTATTTGTTTCTAGGGGCCACCTACAGATGCTCCTGCAGTGGACACAGCAGAACAAGTCTATATCTCTTCCCTGGCACTGTTAAAAGTAGGTAATGAATGTAGTTACTTGCTTTAGAGAACTCTGTTGCT mutant NA NA NA NA NA 144 3225 0.985903776397374 0.997665178171173 0.991784477284274 NA NA 0.998788407357794 0.93142068563301 NA NA -0.0128846309604193 0.0662444925381631 NA 0.965104546495402 NA 0.0266799307888719 NA FALSE NA 0.995 0.116 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD14 NA NA NA ENSG00000115233 ENSE00001130164 synonymous_variant 1.017144 0.97114 0.88571 0.732398 0.66074734542196 0 0.790099057421391 FALSE 4.57298e-06 ENSE00001131019_000 ENSE00001131019 000 19 16301268 16301437 + 63 54 53 NA NA NA NA NA CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGACATGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 NA NA NA NA NA NA CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG natural 90 143 0.991047470067532 0.978716139519165 0.984881804793349 1055 1679 0.994674190574048 0.966441189306642 0.980557689940345 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 0 0 0 0 0.984881804793349 0.980557689940345 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM32A NA NA NA ENSG00000105058 ENSE00003536196 NA NA NA NA NA NA NA 0.00905286803934175 FALSE NA ENSE00001131019_001 ENSE00001131019 001 19 16301268 16301437 + 63 54 53 T A 16301286 1355 19 CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGACATGGAGGTGAGTTTACAGGCTCAACACTGCCCAGGCTGGCATGGGG 16190456 16190626 16190474 16190475 16190475 upstr_intron -45 -0.698412698412698 CCCCATGCCAGCCTGGGCAGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 117 81 1 1 1 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA 0.0053258094259524 0.0335588106933581 0.984881804793349 0.980557689940345 NA 0.0194423100596552 NA FALSE NA 0.071 0.193 NA NA NA FAM32A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16190475 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 intron_variant 0.637773 0.18412 0.13339 0.256867 0.826198843390167 0.189882 0.00905286803934175 FALSE 5.20416e-06 ENSE00001131019_005 ENSE00001131019 005 19 16301268 16301437 + 63 54 53 C A 16301308 1359 41 CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGACATGGATGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 16190496 16190497 16190497 upstr_intron -23 -0.349206349206349 CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACATCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 86 52 1 1 1 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA 0.0053258094259524 0.0335588106933581 0.984881804793349 0.980557689940345 NA 0.0194423100596552 NA FALSE NA 0.007 0.139 . downstream_gene_variant MODIFIER FAM32A HGNC 24563 ENST00000587351 1 NA CCT C,A 2.473e-05 19:16190497 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 intron_variant 0.700895 0.14505 0.0739 0.256867 0.797476967352814 0.190364 0.00905286803934175 FALSE NA ENSE00001131019_007 ENSE00001131019 007 19 16301268 16301437 + 63 54 53 A G 16301312 1361 45 CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGACACGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 16190500 16190501 16190501 upstr_intron -19 -0.285714285714286 CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCGTGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 14 1143 1 1 1 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA 0.0053258094259524 0.0335588106933581 0.984881804793349 0.980557689940345 NA 0.0194423100596552 NA FALSE NA 0 -2.792 rs206231 downstream_gene_variant MODIFIER FAM32A HGNC 24563 ENST00000587351 rs206231 1 A:0.3085 G:0.5893 G:0.7939 NA G:0.6548 G:0.7555 G:0.729 G:0.6291 G:0.7523 CAT G,G 0.726 19:16190501 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 intron_variant -0.603631 0.02529 0.00235 0.256867 0.537032348243718 0.190364 0.00905286803934175 FALSE 0.743133 ENSE00001131019_008 ENSE00001131019 008 19 16301268 16301437 + 63 54 53 G A 16301314 1362 47 CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGATATGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 16190502 16190503 16190503 upstr_intron -17 -0.253968253968254 CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATATCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 41 206 1 0.987462055723739 0.99373102786187 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA 0.0053258094259524 0.0210208664170976 0.984881804793349 0.980557689940345 NA 0.013173337921525 NA FALSE NA 0.001 -0.849 . downstream_gene_variant MODIFIER FAM32A HGNC 24563 ENST00000587351 1 NA TGT G,A 8.239e-06 19:16190503 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 intron_variant 0.326856 0.14707 0.03002 0.256867 0.448196099737484 0.190364 0.00905286803934175 FALSE NA ENSE00001131019_010 ENSE00001131019 010 19 16301268 16301437 + 63 54 53 A G 16301329 1364 62 CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCCGGAGAGAGAAGAGACATGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 16190517 16190518 16190518 upstr_intron -2 -0.0158730158730159 CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCGGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 51 70 0.0594660340958652 0 0.0297330170479326 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA -0.935208156478182 -0.966441189306642 0.984881804793349 0.980557689940345 NA -0.950824672892412 NA TRUE NA 1 6.679 . downstream_gene_variant MODIFIER FAM32A HGNC 24563 ENST00000587351 1 NA CAG A,G 8.237e-06 19:16190518 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 splice_acceptor_variant 3.390821 0.98675 0.98548 0.295142 0.987771111663787 0.848929 0.00905286803934175 FALSE 4.15749e-06 ENSE00001131019_013 ENSE00001131019 013 19 16301268 16301437 + 63 54 53 G T 16301375 1367 108 CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTATGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGACATGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 16190563 16190564 16190564 exon -10 0.833333333333333 CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCATAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 13 33 1 1 1 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA 0.0053258094259524 0.0335588106933581 0.984881804793349 0.980557689940345 NA 0.0194423100596552 NA FALSE NA 1 1.789 . downstream_gene_variant MODIFIER FAM32A HGNC 24563 ENST00000587351 rs376369905 1 NA T:0 T:0.0001 AGA G,T 8.237e-06 19:16190564 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 missense_variant 4.455832 0.97037 0.90725 0.706548 0.992431174818065 0 0.00905286803934175 FALSE 4.07392e-06 ENSE00001131019_015 ENSE00001131019 015 19 16301268 16301437 + 63 54 53 G A 16301395 1369 128 CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACATGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGACATGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 16190583 16190584 16190584 downstr_intron 11 1.21153846153846 CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCATGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 49 40 1 1 1 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA 0.0053258094259524 0.0335588106933581 0.984881804793349 0.980557689940345 NA 0.0194423100596552 NA FALSE NA 0 -0.58 . downstream_gene_variant MODIFIER FAM32A HGNC 24563 ENST00000587351 rs371062736 1 NA A:0 A:0.0001 CGT G,A 3.295e-05 19:16190584 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 intron_variant 0.061704 0.13299 0.01828 0.099367 0.237231912934405 0.187526 0.00905286803934175 FALSE 3.67254e-05 ENSE00001131019_020 ENSE00001131019 020 19 16301268 16301437 + 63 54 53 C G 16301412 1374 145 CCCAGCTGGGACCCTGAATGGCTCACTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGACATGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 16190600 16190601 16190601 downstr_intron 28 1.53846153846154 CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGAGTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 563 92 0.953342079524556 0.996546211819202 0.974944145671879 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA -0.0413321110494919 0.0301050225125596 0.984881804793349 0.980557689940345 NA -0.00561354426846611 NA FALSE NA 0.002 0.605 . downstream_gene_variant MODIFIER FAM32A HGNC 24563 ENST00000587351 rs367625907 1 G:0.0006 G:0 G:0 NA G:0 G:0 G:0.0031 G:0 G:0.0001 ACT C,G 0.0003048 19:16190601 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 intron_variant 0.227507 0.1444 0.12365 0.106106 0.71218529046112 0.187367 0.00905286803934175 FALSE 0.000278593 ENSE00001131019_021 ENSE00001131019 021 19 16301268 16301437 + 63 54 53 G A 16301416 1375 149 CCCAGCTGGGACCCTGAATGGTTCAGTCTCCCCCACTGGACACGGCGACTCACCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGCTGGAGAGAGAAGAGACATGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 16190604 16190605 16190605 downstr_intron 32 1.61538461538462 CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAACCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG mutant NA NA NA NA NA 606 126 1 0.95395961934373 0.976979809671865 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 NA NA 0.0053258094259524 -0.0124815699629123 0.984881804793349 0.980557689940345 NA -0.00357788026847994 NA FALSE NA 0.012 0.05 . downstream_gene_variant MODIFIER FAM32A HGNC 24563 ENST00000587351 rs200664445 1 A:0.0012 A:0.003 A:0.0029 NA A:0 A:0 A:0 A:0.0002 A:0 AGC G,A 0.0001071 19:16190605 FAM32A HGNC Symbol protein_coding 6666 ENSG00000105058 ENSE00003536196 intron_variant 0.210685 0.12646 0.0268 0.106106 0.739400889806019 0.187367 0.00905286803934175 FALSE 0.000106692 ENSE00001131019_BRK ENSE00001131019 BRK 19 16301268 16301437 + 63 54 53 A,G; T,T NA NA NA CCCAGCTGGGACCCTGAATGGCTCAGTCTCCCCCACTGGACACGGCGACTCGGCTCCACTCTCTGCTTGTGGGTTTTGGATGCCTTCTTTAGGATCCTTTCCATTTGAAGGAGAGAGAAGAGACATGGAGGTGAGTTTACAGGCTCAACACAGCCCAGGCTGGCATGGGG 16190456 16190626 NA NA NA NA NA NA CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCTTCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGCCGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG CCCCATGCCAGCCTGGGCTGTGTTGAGCCTGTAAACTCACCTCCATGTCTCTTCTCTCTCCAGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGTGAGTCGCCGTGTCCAGTGGGGGAGACTGAGCCATTCAGGGTCCCAGCTGGG control 165 252 0 0 0 NA NA NA NA NA 0.991047470067532 0.978716139519165 0.994674190574048 0.966441189306642 -0.991047470067532 -0.978716139519165 NA NA 0.984881804793349 0.980557689940345 -0.984881804793349 NA NA NA TRUE NA NA NA NA NA FAM32A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM32A NA NA NA ENSG00000105058 ENSE00003536196 NA NA NA NA NA NA NA 0.00905286803934175 FALSE NA ENSE00001131625_000 ENSE00001131625 000 12 110641622 110641791 + 47 87 36 NA NA NA NA NA TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCATACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 NA NA NA NA NA NA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA natural NA NA NA NA NA 3236 2186 0.871236878475543 0.996595312698904 0.933916095587223 NA NA 0.871236878475543 0.996595312698904 NA NA 0 0 NA 0.933916095587223 NA 0 NA FALSE NA NA NA NA NA NA IFT81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT81 NA NA NA ENSG00000122970 ENSE00001131625 NA NA NA NA NA NA NA 5.76030312431944e-07 FALSE NA ENSE00001131625_003 ENSE00001131625 003 12 110641622 110641791 + 47 87 36 A G 110641662 3218 41 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCATACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTACAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203856 110203857 110203857 upstr_intron -7 -0.127659574468085 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTGTACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 542 517 0.995983536994676 0.997251855000662 0.996617695997669 NA NA 0.871236878475543 0.996595312698904 NA NA 0.124746658519133 0.000656542301757601 NA 0.933916095587223 NA 0.0627016004104454 NA FALSE NA 0.121 -0.036 . splice_region_variant&intron_variant&NMD_transcript_variant LOW IFT81 HGNC 14313 ENST00000550156 13/19 1 NA TAT A,G 8.278e-06 12:110203857 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 splice_region_variant 0.95381 0.21262 0.06847 0.162113 0.712050382282331 0.243292 5.76030312431944e-07 FALSE 8.22193e-06 ENSE00001131625_005 ENSE00001131625 005 12 110641622 110641791 + 47 87 36 A T 110641688 3220 67 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCATACTGGGATTTCTTTTCAACACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203882 110203883 110203883 exon 20 0.229885057471264 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGTTGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 51 2003 1 0.998544932786284 0.999272466393142 NA NA 0.871236878475543 0.996595312698904 NA NA 0.128763121524457 0.00194962008737998 NA 0.933916095587223 NA 0.0653563708059187 NA FALSE NA 1 4.61 . missense_variant&NMD_transcript_variant MODERATE IFT81 HGNC 14313 ENST00000550156 14/20 1 tolerated(0.07) benign(0.109) NA GAT A,T 8.278e-06 12:110203883 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 missense_variant 3.056415 0.94119 0.82232 0.732398 0.97922357167258 0 5.76030312431944e-07 FALSE 4.10455e-06 ENSE00001131625_006 ENSE00001131625 006 12 110641622 110641791 + 47 87 36 C G 110641700 3221 79 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCATACTGGCATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203894 110203895 110203895 exon 32 0.367816091954023 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATGCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 576 102 0.996739836958692 1 0.998369918479346 NA NA 0.871236878475543 0.996595312698904 NA NA 0.125502958483149 0.00340468730109567 NA 0.933916095587223 NA 0.0644538228921224 NA FALSE NA 0.894 1.604 . missense_variant&NMD_transcript_variant MODERATE IFT81 HGNC 14313 ENST00000550156 14/20 1 deleterious(0.03) possibly_damaging(0.487) NA TCC C,G 1.655e-05 12:110203895 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 missense_variant 4.189461 0.92991 0.60809 0.732398 0.990362192235502 0 5.76030312431944e-07 FALSE 2.46334e-05 ENSE00001131625_007 ENSE00001131625 007 12 110641622 110641791 + 47 87 36 G C 110641704 3222 83 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCATAGTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203898 110203899 110203899 exon 36 0.413793103448276 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCACTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 17 48 1 0.959599661945465 0.979799830972733 NA NA 0.871236878475543 0.996595312698904 NA NA 0.128763121524457 -0.0369956507534389 NA 0.933916095587223 NA 0.0458837353855093 NA FALSE NA 1 1.762 . missense_variant&NMD_transcript_variant MODERATE IFT81 HGNC 14313 ENST00000550156 14/20 1 tolerated(0.61) benign(0.004) NA AGT G,C 2.483e-05 12:110203899 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 missense_variant 1.480909 0.91869 0.74613 0.732398 0.831487117572708 0 5.76030312431944e-07 FALSE 2.05302e-05 ENSE00001131625_008 ENSE00001131625 008 12 110641622 110641791 + 47 87 36 A G 110641706 3223 85 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCACACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203900 110203901 110203901 exon 38 0.436781609195402 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTGTGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 90 143 0.977543080269324 1 0.988771540134662 NA NA 0.871236878475543 0.996595312698904 NA NA 0.106306201793781 0.00340468730109567 NA 0.933916095587223 NA 0.0548554445474384 NA FALSE NA 1 4.61 . missense_variant&NMD_transcript_variant MODERATE IFT81 HGNC 14313 ENST00000550156 14/20 1 deleterious(0) probably_damaging(0.937) NA TAT A,G 8.277e-06 12:110203901 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 missense_variant 5.86533 0.94116 0.82199 0.732398 0.998179213642201 0 5.76030312431944e-07 FALSE 4.10641e-06 ENSE00001131625_009 ENSE00001131625 009 12 110641622 110641791 + 47 87 36 T C 110641707 3224 86 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCGTACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203901 110203902 110203902 exon 39 0.448275862068966 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTACGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 497 551 0.994402753109695 0.841181999426721 0.917792376268208 NA NA 0.871236878475543 0.996595312698904 NA NA 0.123165874634152 -0.155413313272184 NA 0.933916095587223 NA -0.0161237193190157 NA FALSE NA 1 0.727 . synonymous_variant&NMD_transcript_variant LOW IFT81 HGNC 14313 ENST00000550156 14/20 1 NA ATG T,C 8.278e-06 12:110203902 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 synonymous_variant -0.416187 0.90648 0.58415 0.732398 0.768084990993422 0 5.76030312431944e-07 FALSE 4.10681e-06 ENSE00001131625_010 ENSE00001131625 010 12 110641622 110641791 + 47 87 36 A T 110641709 3225 88 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTAACATACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203903 110203904 110203904 exon 41 0.471264367816092 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGTTAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 234 502 1 0.988160823085499 0.994080411542749 NA NA 0.871236878475543 0.996595312698904 NA NA 0.128763121524457 -0.00843448961340565 NA 0.933916095587223 NA 0.0601643159555259 NA FALSE NA 1 4.61 . missense_variant&NMD_transcript_variant MODERATE IFT81 HGNC 14313 ENST00000550156 14/20 1 deleterious(0) benign(0.128) NA GAT A,T 8.278e-06 12:110203904 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 missense_variant 4.092639 0.94119 0.82232 0.732398 0.988013607083005 0 5.76030312431944e-07 FALSE 4.10738e-06 ENSE00001131625_016 ENSE00001131625 016 12 110641622 110641791 + 47 87 36 C T 110641728 3231 107 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCAAGGCCTGCTGCACAGCTATCATACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203922 110203923 110203923 exon -28 0.689655172413793 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTTGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 52 16 1 1 1 NA NA 0.871236878475543 0.996595312698904 NA NA 0.128763121524457 0.00340468730109567 NA 0.933916095587223 NA 0.0660839044127766 NA FALSE NA 0.02 -2.043 . synonymous_variant&NMD_transcript_variant LOW IFT81 HGNC 14313 ENST00000550156 14/20 1 NA TCG C,T 8.28e-06 12:110203923 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 synonymous_variant 1.984229 0.21426 0.00866 0.732398 0.761805476982284 0 5.76030312431944e-07 FALSE NA ENSE00001131625_018 ENSE00001131625 018 12 110641622 110641791 + 47 87 36 A G 110641732 3233 111 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCCTTCGAGGCCTGCTGCACAGCTATCATACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203926 110203927 110203927 exon -24 0.735632183908046 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAGGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 855 1001 0.946983664955776 0.993930882799129 0.970457273877452 NA NA 0.871236878475543 0.996595312698904 NA NA 0.075746786480233 -0.00266442989977567 NA 0.933916095587223 NA 0.0365411782902287 NA FALSE NA 1 4.61 . missense_variant&NMD_transcript_variant MODERATE IFT81 HGNC 14313 ENST00000550156 14/20 rs367863559 1 deleterious(0.01) benign(0.318) NA G:0 G:0.0001 AAG A,G 8.28e-06 12:110203927 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 missense_variant 3.828391 0.98257 0.90703 0.732398 0.997925988957151 0 5.76030312431944e-07 FALSE NA ENSE00001131625_021 ENSE00001131625 021 12 110641622 110641791 + 47 87 36 A G 110641746 3236 125 TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTACCTGTTCTAACTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCATACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203940 110203941 110203941 exon -10 0.896551724137931 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAGTTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 70 936 0.987484166834463 0.935871173013844 0.961677669924153 NA NA 0.871236878475543 0.996595312698904 NA NA 0.11624728835892 -0.0607241396850607 NA 0.933916095587223 NA 0.0277615743369297 NA FALSE NA 1 2.251 . synonymous_variant&NMD_transcript_variant LOW IFT81 HGNC 14313 ENST00000550156 14/20 1 NA AAT A,G 8.29e-06 12:110203941 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 synonymous_variant 0.207178 0.98257 0.83927 0.732398 0.843170420090683 0 5.76030312431944e-07 FALSE 8.35087e-06 ENSE00001131625_023 ENSE00001131625 023 12 110641622 110641791 + 47 87 36 T C 110641774 3238 153 TTTGCTAAATTGTTAAAGTAAAAACTCTCTTCTTACCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCATACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCCTAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 110203968 110203969 110203969 downstr_intron 19 1.54285714285714 GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTACTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA mutant NA NA NA NA NA 1696 1121 0.998795210881904 0.998110671630101 0.998452941256003 NA NA 0.871236878475543 0.996595312698904 NA NA 0.127558332406361 0.00151535893119703 NA 0.933916095587223 NA 0.0645368456687791 NA FALSE NA 0 -0.558 . intron_variant&NMD_transcript_variant MODIFIER IFT81 HGNC 14313 ENST00000550156 14/19 1 NA ATT T,C 2.538e-05 12:110203969 IFT81 HGNC Symbol protein_coding 94462 ENSG00000122970 ENSE00001131625 non_coding_transcript_exon_variant 0.878954 0.12761 0.03424 0.126639 0.774884194005535 0.0455939 5.76030312431944e-07 FALSE 4.03344e-05 ENSE00001131625_BRK ENSE00001131625 BRK 12 110641622 110641791 + 47 87 36 A,G; T,T NA NA NA TTTGCTAAATTGTTAAAATAAAAACTCTCTTCTTGGCTGTTCTAATTTGGACCGATTGCTTTCGAGGCCTGCTGCACAGCTATCATACTGGGATTTCTTTTCATCACACTCCTGGGTCAGTTCAAAGTATAAAAAGGGAAAATGATTGAATAAGTGAAAAACAAAGGTCC 110203816 110203986 NA NA NA NA NA NA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTTTGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGCCAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA GGACCTTTGTTTTTCACTTATTCAATCATTTTCCCTTTTTATACTAGGAACTGACCCAGGAGTGTGATGAAAAGAAATCCCAGTATGATAGCTGTGCAGCAGGCCTCGAAAGCAATCGGTCCAAATTAGAACAGGTAAGAAGAGAGTTTTTATTTTAACAATTTAGCAAA control 122 313 0 0 0 NA NA NA NA NA NA NA 0.871236878475543 0.996595312698904 NA NA NA NA NA 0.933916095587223 NA NA NA NA NA NA NA NA NA NA IFT81 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT81 NA NA NA ENSG00000122970 ENSE00001131625 NA NA NA NA NA NA NA 5.76030312431944e-07 FALSE NA ENSE00001132217_000 ENSE00001132217 000 13 30071334 30071503 + 41 99 30 NA NA NA NA NA GGGGCTGGAAGCCTGGAATCCAGAAACGACCTCCAGCTGCTCCTCTGTGTTCTTCCTCAAGGCCTCTTCGAAGCGGCGGGCTCTGTCCCGCAGAGACTGGCTCTGGAAGGTCAGCGTGTCCACCTGGTCCTGCAAGTAATGATACAAGGAGTCCAGCTGGGGCCACTACA 29497196 29497366 NA NA NA NA NA NA TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC natural NA NA NA NA NA 440 976 0.985623583909622 0.926808541445493 0.956216062677558 NA NA 0.985623583909622 0.926808541445493 NA NA 0 0 NA 0.956216062677558 NA 0 NA FALSE NA NA NA NA NA NA MTUS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTUS2 NA NA NA ENSG00000132938 ENSE00003509890 NA NA NA NA NA NA NA 0.330673093548944 FALSE NA ENSE00001132217_001 ENSE00001132217 001 13 30071334 30071503 + 41 99 30 C T 30071344 44 11 TGTAGTGGCCTCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC 29497196 29497366 29497206 29497207 29497207 upstr_intron -31 -0.731707317073171 TGTAGTGGCCTCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC mutant NA NA NA NA NA 280 59 1 0.997309924483578 0.998654962241789 NA NA 0.985623583909622 0.926808541445493 NA NA 0.0143764160903781 0.0705013830380845 NA 0.956216062677558 NA 0.0424388995642313 NA FALSE NA 0 -0.128 . intron_variant&non_coding_transcript_variant MODIFIER MTUS2 HGNC 20595 ENST00000400542 1/4 1 NA CCC C,T 1.649e-05 13:29497207 MTUS2 HGNC Symbol protein_coding 685599 ENSG00000132938 ENSE00003509890 intron_variant 0.538716 0.27565 0.05294 0.056701 0.778676983413932 0.104516 0.330673093548944 FALSE 4.09447e-06 ENSE00001132217_007 ENSE00001132217 007 13 30071334 30071503 + 41 99 30 G A 30071413 50 80 GGGGCTGGAAGCCTGGAATCCAGAAACGACCTCCAGCTGCTCCTCTGTGTTCTTCCTCAAGGCCTCTTCGAAGCGGCGGGCTCTGTCCCGTAGAGACTGGCTCTGGAAGGTCAGCGTGTCCACCTGGTCCTGCAAGTAATGATACAAGGAGTCCAGCTGGGGCCACTACA 29497196 29497366 29497275 29497276 29497276 exon 39 0.393939393939394 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTACGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC mutant NA NA NA NA NA 343 146 1 1 1 NA NA 0.985623583909622 0.926808541445493 NA NA 0.0143764160903781 0.0731914585545068 NA 0.956216062677558 NA 0.0437839373224425 NA FALSE NA 0.943 0.1 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTUS2 HGNC 20595 ENST00000400542 2/5 1 NA TGC G,A 5.781e-05 13:29497276 MTUS2 HGNC Symbol protein_coding 685599 ENSG00000132938 ENSE00003509890 synonymous_variant 0.975785 0.97209 0.75018 0.517182 0.830954142748592 0 0.330673093548944 FALSE 4.07053e-05 ENSE00001132217_009 ENSE00001132217 009 13 30071334 30071503 + 41 99 30 G A 30071415 52 82 GGGGCTGGAAGCCTGGAATCCAGAAACGACCTCCAGCTGCTCCTCTGTGTTCTTCCTCAAGGCCTCTTCGAAGCGGCGGGCTCTGTCCTGCAGAGACTGGCTCTGGAAGGTCAGCGTGTCCACCTGGTCCTGCAAGTAATGATACAAGGAGTCCAGCTGGGGCCACTACA 29497196 29497366 29497277 29497278 29497278 exon 41 0.414141414141414 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCAGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC mutant NA NA NA NA NA 12 79 1 0.803190855489355 0.901595427744677 NA NA 0.985623583909622 0.926808541445493 NA NA 0.0143764160903781 -0.123617685956139 NA 0.956216062677558 NA -0.0546206349328803 NA FALSE NA 1 3.407 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTUS2 HGNC 20595 ENST00000400542 2/5 1 NA CGG G,A 4.129e-05 13:29497278 MTUS2 HGNC Symbol protein_coding 685599 ENSG00000132938 ENSE00003509890 missense_variant 6.074588 0.98136 0.88893 0.517182 0.999362572785809 0 0.330673093548944 FALSE 3.25627e-05 ENSE00001132217_013 ENSE00001132217 013 13 30071334 30071503 + 41 99 30 G A 30071427 56 94 GGGGCTGGAAGCCTGGAATCCAGAAACGACCTCCAGCTGCTCCTCTGTGTTCTTCCTCAAGGCCTCTTCGAAGCGGTGGGCTCTGTCCCGCAGAGACTGGCTCTGGAAGGTCAGCGTGTCCACCTGGTCCTGCAAGTAATGATACAAGGAGTCCAGCTGGGGCCACTACA 29497196 29497366 29497289 29497290 29497290 exon -47 0.535353535353535 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCACCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC mutant NA NA NA NA NA 63 20 0.968675652268799 1 0.984337826134399 NA NA 0.985623583909622 0.926808541445493 NA NA -0.0169479316408231 0.0731914585545068 NA 0.956216062677558 NA 0.0281217634568419 NA FALSE NA 0.847 2.955 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTUS2 HGNC 20595 ENST00000400542 2/5 rs370672492&COSM184703&COSM184704 1 NA A:0 A:0.0001 CGC G,A 3.304e-05 13:29497290 MTUS2 HGNC Symbol protein_coding 685599 ENSG00000132938 ENSE00003509890 missense_variant 5.594975 0.28569 0.23572 0.514905 0.997493796869274 0 0.330673093548944 FALSE 2.84812e-05 ENSE00001132217_014 ENSE00001132217 014 13 30071334 30071503 + 41 99 30 C T 30071428 57 95 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGTCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC 29497196 29497366 29497290 29497291 29497291 exon -46 0.545454545454545 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGTCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC mutant NA NA NA NA NA 89 56 1 0.965271998681657 0.982635999340828 NA NA 0.985623583909622 0.926808541445493 NA NA 0.0143764160903781 0.0384634572361635 NA 0.956216062677558 NA 0.0264199366632708 NA FALSE NA 0.008 -1.241 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTUS2 HGNC 20595 ENST00000400542 2/5 1 NA GCC C,T 8.26e-06 13:29497291 MTUS2 HGNC Symbol protein_coding 685599 ENSG00000132938 ENSE00003509890 synonymous_variant 1.162407 0.20126 0.04109 0.514905 0.914542961783376 0 0.330673093548944 FALSE NA ENSE00001132217_015 ENSE00001132217 015 13 30071334 30071503 + 41 99 30 C T 30071429 58 96 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCTGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC 29497196 29497366 29497291 29497292 29497292 exon -45 0.555555555555556 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCTGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC mutant NA NA NA NA NA 59 107 0.993548252380919 1 0.996774126190459 NA NA 0.985623583909622 0.926808541445493 NA NA 0.00792466847129703 0.0731914585545068 NA 0.956216062677558 NA 0.0405580635129019 NA FALSE NA 0.996 4.04 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTUS2 HGNC 20595 ENST00000400542 2/5 rs373897999&COSM184705&COSM184706 1 NA T:0.0005 T:0 CCG C,T 1.652e-05 13:29497292 MTUS2 HGNC Symbol protein_coding 685599 ENSG00000132938 ENSE00003509890 missense_variant 8.032588 0.98911 0.96745 0.514905 0.999404920330473 0 0.330673093548944 FALSE 1.22055e-05 ENSE00001132217_022 ENSE00001132217 022 13 30071334 30071503 + 41 99 30 A G 30071454 65 121 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAGCACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC 29497196 29497366 29497316 29497317 29497317 exon -20 0.808080808080808 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAGCACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC mutant NA NA NA NA NA 28 163 1 0.952580463144707 0.976290231572354 NA NA 0.985623583909622 0.926808541445493 NA NA 0.0143764160903781 0.0257719216992141 NA 0.956216062677558 NA 0.0200741688947961 NA FALSE NA 1 3.491 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTUS2 HGNC 20595 ENST00000400542 2/5 rs375267526 1 NA G:0.0002 G:0 AAC A,G 8.263e-06 13:29497317 MTUS2 HGNC Symbol protein_coding 685599 ENSG00000132938 ENSE00003509890 missense_variant 0.573108 0.97539 0.83958 0.514905 0.62790394193167 0 0.330673093548944 FALSE NA ENSE00001132217_023 ENSE00001132217 023 13 30071334 30071503 + 41 99 30 A T 30071456 66 123 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACTCAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC 29497196 29497366 29497318 29497319 29497319 exon -18 0.828282828282828 TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACTCAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC mutant NA NA NA NA NA 52 208 0.95 0.998708868244442 0.974354434122221 NA NA 0.985623583909622 0.926808541445493 NA NA -0.0356235839096219 0.0719003267989492 NA 0.956216062677558 NA 0.0181383714446636 NA FALSE NA 1 6.648 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MTUS2 HGNC 20595 ENST00000400542 2/5 1 NA CAC A,T 8.264e-06 13:29497319 MTUS2 HGNC Symbol protein_coding 685599 ENSG00000132938 ENSE00003509890 missense_variant 3.2094 0.98881 0.99274 0.514905 0.987195184985202 0 0.330673093548944 FALSE 1.22524e-05 ENSE00001132217_BRK ENSE00001132217 BRK 13 30071334 30071503 + 41 99 30 A,G; T,T NA NA NA TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCTTGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGCCCGTTTCTGGATTCCAGGCTTCCAGCCCC 29497196 29497366 NA NA NA NA NA NA TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCTTGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGCCCGTTTCTGGATTCCAGGCTTCCAGCCCC TGTAGTGGCCCCAGCTGGACTCCTTGTATCATTACTTGCAGGACCAGGTGGACACGCTGACCTTCCAGAGCCAGTCTCTGCGGGACAGAGCCCGCCGCTTCGAAGAGGCCTTGAGGAAGAACACAGAGGAGCAGCTGGAGGTCGTTTCTGGATTCCAGGCTTCCAGCCCC control NA NA NA NA NA 198 67 0.181990550610602 0 0.0909952753053012 NA NA 0.985623583909622 0.926808541445493 NA NA -0.80363303329902 -0.926808541445493 NA 0.956216062677558 NA -0.865220787372256 NA TRUE NA NA NA NA NA NA MTUS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTUS2 NA NA NA ENSG00000132938 ENSE00003509890 NA NA NA NA NA NA NA 0.330673093548944 FALSE NA ENSE00001132906_000 ENSE00001132906 000 4 99397508 99397677 - 56 48 66 NA NA NA NA NA CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC 98476356 98476526 NA NA NA NA NA NA CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC natural 16 20 0.999461578903647 0.983837935875185 0.991649757389416 1027 1256 0.995620904498835 0.872361202332696 0.933991053415765 0.999461578903647 0.983837935875185 0.995620904498835 0.872361202332696 0 0 0 0 0.991649757389416 0.933991053415765 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN5 NA NA NA ENSG00000168785 ENSE00003578154 NA NA NA NA NA NA NA 0.927948896697443 TRUE NA ENSE00001132906_001 ENSE00001132906 001 4 99397508 99397677 - 56 48 66 C A 99397527 1019 151 CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGTTGTTGGAGGAGCTTTGGCC 98476356 98476526 98476375 98476376 98476376 downstr_intron 37 1.67272727272727 CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGTTGTTGGAGGAGCTTTGGCC CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC mutant NA NA NA NA NA 103 67 1 1 1 0.999461578903647 0.983837935875185 0.995620904498835 0.872361202332696 NA NA 0.00437909550116466 0.127638797667304 0.991649757389416 0.933991053415765 NA 0.0660089465842346 NA FALSE NA 0 -0.072 . downstream_gene_variant MODIFIER TSPAN5 HGNC 17753 ENST00000515440 rs369513497 1 NA T:0.0002 T:0 ACC C,A 1.647e-05 4:98476376 TSPAN5 HGNC Symbol protein_coding 188262 ENSG00000168785 ENSE00003578154 intron_variant 2.215202 0.56588 0.09423 0.062308 0.756328049515656 0.189483 0.927948896697443 TRUE 1.21829e-05 ENSE00001132906_003 ENSE00001132906 003 4 99397508 99397677 - 56 48 66 C T 99397544 1021 134 CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTATTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC 98476356 98476526 98476392 98476393 98476393 downstr_intron 20 1.36363636363636 CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTATTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC mutant NA NA NA NA NA 299 114 1 1 1 0.999461578903647 0.983837935875185 0.995620904498835 0.872361202332696 NA NA 0.00437909550116466 0.127638797667304 0.991649757389416 0.933991053415765 NA 0.0660089465842346 NA FALSE NA 0 0.339 . downstream_gene_variant MODIFIER TSPAN5 HGNC 17753 ENST00000515440 1 NA ACA C,T 8.236e-06 4:98476393 TSPAN5 HGNC Symbol protein_coding 188262 ENSG00000168785 ENSE00003578154 intron_variant 0.195277 0.32313 0.20014 0.062308 0.547703278343082 0.140976 0.927948896697443 TRUE 8.1217e-06 ENSE00001132906_008 ENSE00001132906 008 4 99397508 99397677 - 56 48 66 A G 99397582 1026 96 CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTACGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC 98476356 98476526 98476430 98476431 98476431 exon -19 0.625 CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTACGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC mutant NA NA NA NA NA 46 304 1 1 1 0.999461578903647 0.983837935875185 0.995620904498835 0.872361202332696 NA NA 0.00437909550116466 0.127638797667304 0.991649757389416 0.933991053415765 NA 0.0660089465842346 NA FALSE NA 0.732 -0.02 . downstream_gene_variant MODIFIER TSPAN5 HGNC 17753 ENST00000515440 1 NA CAT A,G 1.647e-05 4:98476431 TSPAN5 HGNC Symbol protein_coding 188262 ENSG00000168785 ENSE00003578154 missense_variant -0.100387 0.96673 0.58229 0.706298 0.904549677268937 0 0.927948896697443 TRUE 8.1215e-06 ENSE00001132906_009 ENSE00001132906 009 4 99397508 99397677 - 56 48 66 C T 99397611 1027 67 CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGAAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC 98476356 98476526 98476459 98476460 98476460 exon 1 0.0208333333333333 CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGAAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC mutant NA NA NA NA NA 740 476 1 1 1 0.999461578903647 0.983837935875185 0.995620904498835 0.872361202332696 NA NA 0.00437909550116466 0.127638797667304 0.991649757389416 0.933991053415765 NA 0.0660089465842346 NA FALSE NA 1 7.622 . downstream_gene_variant MODIFIER TSPAN5 HGNC 17753 ENST00000515440 1 NA TCC C,T 8.236e-06 4:98476460 TSPAN5 HGNC Symbol protein_coding 188262 ENSG00000168785 ENSE00003578154 missense_variant 6.106852 0.99626 0.99393 0.706298 0.998991158105161 0 0.927948896697443 TRUE 4.062e-06 ENSE00001132906_013 ENSE00001132906 013 4 99397508 99397677 - 56 48 66 A G 99397658 1031 20 CTCATTTCTAGGTGGGCTTCCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC 98476356 98476526 98476506 98476507 98476507 upstr_intron -47 -0.696969696969697 CTCATTTCTAGGTGGGCTTCCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC mutant NA NA NA NA NA 318 51 1 1 1 0.999461578903647 0.983837935875185 0.995620904498835 0.872361202332696 NA NA 0.00437909550116466 0.127638797667304 0.991649757389416 0.933991053415765 NA 0.0660089465842346 NA FALSE NA 0 -0.245 rs17027617 downstream_gene_variant MODIFIER TSPAN5 HGNC 17753 ENST00000515440 rs17027617 1 G:0.0567 G:0.1838 G:0.0245 NA G:0 G:0.007 G:0.0174 G:0.1457 G:0.0106 GAA A,G 0.023 4:98476507 TSPAN5 HGNC Symbol protein_coding 188262 ENSG00000168785 ENSE00003578154 intron_variant 0.040588 0.25496 0.02151 0.062308 0.684247520232329 0.0455939 0.927948896697443 TRUE 0.0198994 ENSE00001132906_BRK ENSE00001132906 BRK 4 99397508 99397677 - 56 48 66 A,G; T,T NA NA NA CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCTTGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCACCAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC 98476356 98476526 NA NA NA NA NA NA CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCTTGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCACCAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC CTCATTTCTAGGTGGGCTTTCTGTCTAATGAGTAAATTTCACTTTTCTCTTTCCTTTCTTCACCAGGAAGATGTCATCAACACTCAGTGTGGCTATGATGCCAGGCAAAAACCAGTAAGTGGAATCTCATGTTGTTGCTTAGCACGAAGGGTGTTGGAGGAGCTTTGGCC control 32 23 0 0 0 NA NA NA NA NA 0.999461578903647 0.983837935875185 0.995620904498835 0.872361202332696 -0.999461578903647 -0.983837935875185 NA NA 0.991649757389416 0.933991053415765 -0.991649757389416 NA NA NA TRUE NA NA NA NA NA TSPAN5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN5 NA NA NA ENSG00000168785 ENSE00003578154 NA NA NA NA NA NA NA 0.927948896697443 TRUE NA ENSE00001133186_000 ENSE00001133186 000 3 29941131 29941300 + 65 51 54 NA NA NA NA NA CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 NA NA NA NA NA NA CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT natural 36 29 0.974776645929661 0.894272104101908 0.934524375015785 2777 5335 0.975771292084858 0.885852934845203 0.93081211346503 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 0 0 0 0 0.934524375015785 0.93081211346503 0 0 0 FALSE FALSE NA NA NA NA NA RBMS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBMS3 NA NA NA ENSG00000144642 ENSE00003667457 NA NA NA NA NA NA NA 0.741403241313464 FALSE NA ENSE00001133186_002 ENSE00001133186 002 3 29941131 29941300 + 65 51 54 C G 29941155 348 25 CTGAACACAAGAACCAAGTTCTCTGTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899663 29899664 29899664 upstr_intron -41 -0.615384615384615 CTGAACACAAGAACCAAGTTCTCTGTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 987 1179 1 0.998534091362131 0.999267045681066 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.0242287079151422 0.112681156516928 0.934524375015785 0.93081211346503 NA 0.0684549322160352 NA FALSE NA 0.924 0.415 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 4/5 1 NA TCT C,G 8.241e-06 3:29899664 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.305034 0.97144 0.83734 0.062308 0.655918815707059 0.432568 0.741403241313464 FALSE 4.2073e-06 ENSE00001133186_003 ENSE00001133186 003 3 29941131 29941300 + 65 51 54 T C 29941158 349 28 CTGAACACAAGAACCAAGTTCTCTCTACGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899666 29899667 29899667 upstr_intron -38 -0.569230769230769 CTGAACACAAGAACCAAGTTCTCTCTACGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 817 503 0.907952649782647 0.999010318753805 0.953481484268226 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.067818642302211 0.113157383908602 0.934524375015785 0.93081211346503 NA 0.0226693708031953 NA FALSE NA 1 3.237 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 4/5 1 NA ATG T,C 3.296e-05 3:29899667 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.468507 0.984 0.78594 0.062308 0.690494920866767 0.969738 0.741403241313464 FALSE 2.93115e-05 ENSE00001133186_004 ENSE00001133186 004 3 29941131 29941300 + 65 51 54 G A 29941163 350 33 CTGAACACAAGAACCAAGTTCTCTCTATGATTACTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899671 29899672 29899672 upstr_intron -33 -0.492307692307692 CTGAACACAAGAACCAAGTTCTCTCTATGATTACTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 935 219 0.98912714828181 0.995533851053803 0.992330499667807 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.0133558561969527 0.1096809162086 0.934524375015785 0.93081211346503 NA 0.0615183862027762 NA FALSE NA 1 1.368 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:29899672 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.232137 0.95988 0.84275 0.062308 0.754441221028858 0.436989 0.741403241313464 FALSE 4.16844e-06 ENSE00001133186_005 ENSE00001133186 005 3 29941131 29941300 + 65 51 54 G T 29941163 351 33 CTGAACACAAGAACCAAGTTCTCTCTATGATTTCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899671 29899672 29899672 upstr_intron -33 -0.492307692307692 CTGAACACAAGAACCAAGTTCTCTCTATGATTTCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 18 243 1 1 1 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.0242287079151422 0.114147065154797 0.934524375015785 0.93081211346503 NA 0.0691878865349695 NA FALSE NA 1 1.368 NA NA NA RBMS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBMS3 NA NA NA ENSG00000144642 ENSE00003667457 intron_variant 2.067524 0.95983 0.75946 0.062308 0.732691251513473 0.436989 0.741403241313464 FALSE 4.16844e-06 ENSE00001133186_006 ENSE00001133186 006 3 29941131 29941300 + 65 51 54 T C 29941165 352 35 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCCTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899673 29899674 29899674 upstr_intron -31 -0.461538461538462 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCCTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 2928 967 0.988722101066802 0.99339960047827 0.991060850772536 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.0129508089819445 0.107546665633067 0.934524375015785 0.93081211346503 NA 0.0602487373075056 NA FALSE NA 1 0.323 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 4/5 1 NA CTT T,C 8.241e-06 3:29899674 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.227335 0.96157 0.76159 0.062308 0.530785159573412 0.512911 0.741403241313464 FALSE 4.16143e-06 ENSE00001133186_007 ENSE00001133186 007 3 29941131 29941300 + 65 51 54 T C 29941179 353 49 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAACGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899687 29899688 29899688 upstr_intron -17 -0.246153846153846 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAACGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 364 453 0.88528224458283 0.962894877134583 0.924088560858706 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.0904890475020281 0.0770419422893798 0.934524375015785 0.93081211346503 NA -0.00672355260632418 NA FALSE NA 1 3.09 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 4/5 rs370302066 1 NA C:0 C:0.0001 ATG T,C 8.24e-06 3:29899688 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.217587 0.9851 0.95549 0.062308 0.827427234696917 0.97142 0.741403241313464 FALSE 4.11814e-06 ENSE00001133186_008 ENSE00001133186 008 3 29941131 29941300 + 65 51 54 G A 29941183 354 53 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTATTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899691 29899692 29899692 upstr_intron -13 -0.184615384615385 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTATTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 753 769 0.993598141076266 0.991612916076325 0.992605528576296 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.0178268489914084 0.105759981231122 0.934524375015785 0.93081211346503 NA 0.0617934151112651 NA FALSE NA 1 1.152 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 4/5 1 NA TGT G,A 8.24e-06 3:29899692 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.243764 0.97094 0.81816 0.062308 0.752442601887757 0.918401 0.741403241313464 FALSE NA ENSE00001133186_009 ENSE00001133186 009 3 29941131 29941300 + 65 51 54 T C 29941189 355 59 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGACGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899697 29899698 29899698 upstr_intron -7 -0.0923076923076923 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGACGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 189 1482 0.95257953447629 0.904239855446198 0.928409694961244 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.0231917576085682 0.0183869206009953 0.934524375015785 0.93081211346503 NA -0.00240241850378642 NA FALSE NA 1 2.39 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RBMS3 HGNC 13427 ENST00000497319 4/5 1 NA ATG T,C 8.239e-06 3:29899698 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 splice_region_variant 1.634192 0.98515 0.83162 0.062308 0.918320236268461 0.97311 0.741403241313464 FALSE NA ENSE00001133186_010 ENSE00001133186 010 3 29941131 29941300 + 65 51 54 A T 29941210 356 80 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCTTGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899718 29899719 29899719 exon 15 0.294117647058824 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCTTGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 924 134 0.938517636105763 0.801883757122385 0.870200696614074 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.0372536559790947 -0.0839691777228185 0.934524375015785 0.93081211346503 NA -0.0606114168509566 NA FALSE NA 0.997 1.31 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/6 1 NA CAT A,T 8.239e-06 3:29899719 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 synonymous_variant -0.051182 0.97934 0.86944 0.615465 0.721997728483142 0 0.741403241313464 FALSE 4.09353e-06 ENSE00001133186_011 ENSE00001133186 011 3 29941131 29941300 + 65 51 54 C T 29941218 357 88 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCTTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899726 29899727 29899727 exon 23 0.450980392156863 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCTTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 742 2314 0.818964345339998 0.995950053115547 0.907457199227773 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.156806946744859 0.110097118270344 0.934524375015785 0.93081211346503 NA -0.0233549142372578 NA FALSE NA 1 7.766 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/6 1 NA CCT C,T 8.239e-06 3:29899727 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 missense_variant 5.615164 0.99558 0.99022 0.615465 0.993431727123724 0 0.741403241313464 FALSE 8.19283e-06 ENSE00001133186_013 ENSE00001133186 013 3 29941131 29941300 + 65 51 54 C T 29941224 359 94 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCTGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899732 29899733 29899733 exon -23 0.568627450980392 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCTGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 26 287 0.95597222269009 0.81297535266447 0.88447378767728 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.0197990693947678 -0.0728775821807334 0.934524375015785 0.93081211346503 NA -0.0463383257877506 NA FALSE NA 1 4.971 rs139461480 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/6 rs139461480 1 NA T:0 T:0.0001 CCG C,T 8.238e-05 3:29899733 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 missense_variant 3.112161 0.98782 0.91971 0.615465 0.943486338604217 0 0.741403241313464 FALSE 4.91139e-05 ENSE00001133186_014 ENSE00001133186 014 3 29941131 29941300 + 65 51 54 G A 29941225 360 95 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCACCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899733 29899734 29899734 exon -22 0.588235294117647 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCACCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 2263 84 0.960639244085847 0.985336596605975 0.972987920345911 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.0151320479990106 0.0994836617607715 0.934524375015785 0.93081211346503 NA 0.0421758068808805 NA FALSE NA 1 3.203 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/6 1 NA CGC G,A 8.238e-06 3:29899734 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 synonymous_variant 1.561612 0.98102 0.91062 0.615465 0.68354743967761 0 0.741403241313464 FALSE NA ENSE00001133186_016 ENSE00001133186 016 3 29941131 29941300 + 65 51 54 A G 29941230 362 100 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATGCGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899738 29899739 29899739 exon -17 0.686274509803922 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATGCGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 1602 117 0.928723408875317 0.970899061828819 0.949811235352068 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.0470478832095407 0.0850461269836159 0.934524375015785 0.93081211346503 NA 0.0189991218870376 NA FALSE NA 1 9.276 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/6 1 NA TAC A,G 8.238e-06 3:29899739 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 missense_variant 6.140012 0.99413 0.99375 0.615465 0.9942798071282 0 0.741403241313464 FALSE NA ENSE00001133186_019 ENSE00001133186 019 3 29941131 29941300 + 65 51 54 G A 29941232 365 102 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACATTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899740 29899741 29899741 exon -15 0.725490196078431 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACATTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 488 316 0.948934973838909 0.941589556826706 0.945262265332807 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.0268363182459489 0.0557366219815029 0.934524375015785 0.93081211346503 NA 0.014450151867777 NA FALSE NA 1 7.918 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/6 1 NA CGT G,A 1.648e-05 3:29899741 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 missense_variant 2.007976 0.99243 0.98219 0.615465 0.357183675632956 0 0.741403241313464 FALSE 1.63799e-05 ENSE00001133186_020 ENSE00001133186 020 3 29941131 29941300 + 65 51 54 G A 29941253 366 123 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTATTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899761 29899762 29899762 downstr_intron 7 1.13207547169811 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTATTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 180 136 1 0.984375831449128 0.992187915724564 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.0242287079151422 0.098522896603925 0.934524375015785 0.93081211346503 NA 0.0613758022595336 NA FALSE NA 1 3.518 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RBMS3 HGNC 13427 ENST00000497319 5/5 1 NA TGT G,A 8.239e-06 3:29899762 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 splice_region_variant 1.795557 0.97977 0.77843 0.053691 0.878755755691534 0.93322 0.741403241313464 FALSE 8.20802e-06 ENSE00001133186_021 ENSE00001133186 021 3 29941131 29941300 + 65 51 54 T A 29941277 367 147 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATAATTCTATTATCCAAGTACAAGCTT 29899639 29899809 29899785 29899786 29899786 downstr_intron 31 1.58490566037736 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATAATTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 632 1044 0.991285318844853 0.974051604966782 0.982668461905817 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.0155140267599955 0.0881986701215786 0.934524375015785 0.93081211346503 NA 0.051856348440787 NA FALSE NA 1 1.429 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/5 rs568466847 1 A:0.0028 A:0 A:0 NA A:0 A:0 A:0.0143 ATT T,A 0.001327 3:29899786 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.646962 0.97893 0.89876 0.053691 0.780221507687418 0.853819 0.741403241313464 FALSE 0.00113169 ENSE00001133186_022 ENSE00001133186 022 3 29941131 29941300 + 65 51 54 T C 29941281 368 151 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCCATTATCCAAGTACAAGCTT 29899639 29899809 29899789 29899790 29899790 downstr_intron 35 1.66037735849057 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCCATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 2177 1581 0.981721481788219 0.981881333468532 0.981801407628375 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.00595018970336081 0.0960283986233286 0.934524375015785 0.93081211346503 NA 0.0509892941633447 NA FALSE NA 1 2.821 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/5 1 NA CTA T,C 8.24e-06 3:29899790 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.454902 0.97809 0.47646 0.053691 0.682475158129948 0.96493 0.741403241313464 FALSE 4.1731e-06 ENSE00001133186_023 ENSE00001133186 023 3 29941131 29941300 + 65 51 54 A G 29941282 369 152 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTGTTATCCAAGTACAAGCTT 29899639 29899809 29899790 29899791 29899791 downstr_intron 36 1.67924528301887 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTGTTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 753 481 0.878013785464982 0.995358792114756 0.936686288789869 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA -0.0977575066198759 0.109505857269553 0.934524375015785 0.93081211346503 NA 0.00587417532483853 NA FALSE NA 1 0.178 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/5 1 NA TAT A,G 8.24e-06 3:29899791 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.23745 0.95602 0.53925 0.053691 0.530443291060084 0.535604 0.741403241313464 FALSE 8.3485e-06 ENSE00001133186_024 ENSE00001133186 024 3 29941131 29941300 + 65 51 54 A C 29941289 370 159 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCCAGTACAAGCTT 29899639 29899809 29899797 29899798 29899798 downstr_intron 43 1.81132075471698 CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCCAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT mutant NA NA NA NA NA 315 749 1 0.984234593468802 0.992117296734401 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 NA NA 0.0242287079151422 0.098381658623599 0.934524375015785 0.93081211346503 NA 0.0613051832693706 NA FALSE NA 0.994 0.431 . intron_variant&non_coding_transcript_variant MODIFIER RBMS3 HGNC 13427 ENST00000497319 5/5 1 NA CAA A,C 8.24e-06 3:29899798 RBMS3 HGNC Symbol protein_coding 1435600 ENSG00000144642 ENSE00003667457 intron_variant 2.198609 0.95479 0.70489 0.053691 0.604905907232017 0.43559 0.741403241313464 FALSE 4.19752e-06 ENSE00001133186_BRK ENSE00001133186 BRK 3 29941131 29941300 + 65 51 54 A,G; T,T NA NA NA CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATTTGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACACCAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT 29899639 29899809 NA NA NA NA NA NA CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATTTGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACACCAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT CTGAACACAAGAACCAAGTTCTCTCTATGATTGCTTTGTGCTAATAAATGCTGTTTGATGCATAGGTCCAGAGTACTTCATGGATGCCTCATCCGCCATACGTTATGCAACCAACAGTAAGTGTTCTCAGTCACCTGAGGCTAATATTTCTATTATCCAAGTACAAGCTT control 579 220 0 0 0 754 2728 0.00653096135381595 0.00204184423263117 0.00428640279322356 0.974776645929661 0.894272104101908 0.975771292084858 0.885852934845203 -0.974776645929661 -0.894272104101908 -0.969240330731042 -0.883811090612572 0.934524375015785 0.93081211346503 -0.934524375015785 -0.926525710671807 0.00799866434397789 TRUE TRUE NA NA NA NA NA RBMS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBMS3 NA NA NA ENSG00000144642 ENSE00003667457 NA NA NA NA NA NA NA 0.741403241313464 FALSE NA ENSE00001133529_000 ENSE00001133529 000 4 16587507 16587676 - 38 84 48 NA NA NA NA NA GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 NA NA NA NA NA NA GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT natural 398 344 0.995582564903985 0.993212578939139 0.994397571921562 10316 8968 0.790392656378891 0.961886602900377 0.876139629639634 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 0 0 0 0 0.994397571921562 0.876139629639634 0 0 0 FALSE FALSE NA NA NA NA NA LDB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LDB2 NA NA NA ENSG00000169744 ENSE00003577402 NA NA NA NA NA NA NA 0.97606785748877 TRUE NA ENSE00001133529_001 ENSE00001133529 001 4 16587507 16587676 - 38 84 48 A G 16587517 609 160 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTCTGGTGAGTTT 16585883 16586053 16585893 16585894 16585894 downstr_intron 28 1.75675675675676 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTCTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 3598 422 0.970431318742961 0.999249722426264 0.984840520584613 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.18003866236407 0.0373631195258878 0.994397571921562 0.876139629639634 NA 0.108700890944979 NA FALSE NA 0 1.318 . intron_variant MODIFIER LDB2 HGNC 6533 ENST00000503178 4/6 rs374712845 1 NA G:0.0005 G:0 AAA A,G 2.471e-05 4:16585894 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 intron_variant 0.26475 0.18491 0.00549 0.048788 0.605699420787526 0.0840973 0.97606785748877 TRUE 2.03361e-05 ENSE00001133529_002 ENSE00001133529 002 4 16587507 16587676 - 38 84 48 T C 16587522 610 155 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTGTTTTTTGGTGAGTTT 16585883 16586053 16585898 16585899 16585899 downstr_intron 23 1.62162162162162 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTGTTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 604 2514 0.986536350340525 0.99963135531939 0.993083852829958 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.196143693961634 0.0377447524190134 0.994397571921562 0.876139629639634 NA 0.116944223190324 NA FALSE NA 0 0.046 . intron_variant MODIFIER LDB2 HGNC 6533 ENST00000503178 4/6 1 NA ATA T,C 8.236e-06 4:16585899 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 intron_variant 0.249576 0.19825 0.08533 0.048788 0.41351145107027 0.0840973 0.97606785748877 TRUE 4.0663e-06 ENSE00001133529_003 ENSE00001133529 003 4 16587507 16587676 - 38 84 48 C T 16587528 611 149 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATAATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585904 16585905 16585905 downstr_intron 17 1.45945945945946 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATAATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 430 1251 0.998652363449426 0.973262455743617 0.985957409596522 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.208259707070535 0.0113758528432405 0.994397571921562 0.876139629639634 NA 0.109817779956888 NA FALSE NA 0 -0.399 . intron_variant MODIFIER LDB2 HGNC 6533 ENST00000503178 4/6 1 NA TCA C,T 8.236e-06 4:16585905 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 intron_variant 0.179406 0.18496 0.01654 0.048788 0.396655480359098 0.0840973 0.97606785748877 TRUE 4.06616e-06 ENSE00001133529_004 ENSE00001133529 004 4 16587507 16587676 - 38 84 48 G A 16587533 612 144 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATTGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585909 16585910 16585910 downstr_intron 12 1.32432432432432 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATTGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 3121 1716 0.992837605640374 0.956794811315808 0.974816208478091 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.202444949261483 -0.00509179158456896 0.994397571921562 0.876139629639634 NA 0.0986765788384572 NA FALSE NA 0 -0.234 . intron_variant MODIFIER LDB2 HGNC 6533 ENST00000503178 4/6 rs369318315 1 NA A:0 A:0.0001 CGA G,A 4.942e-05 4:16585910 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 intron_variant 0.228701 0.12571 0.00906 0.048788 0.536687775687495 0.0840973 0.97606785748877 TRUE 4.47067e-05 ENSE00001133529_005 ENSE00001133529 005 4 16587507 16587676 - 38 84 48 T C 16587535 613 142 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAGTCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585911 16585912 16585912 downstr_intron 10 1.27027027027027 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAGTCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 773 512 0.90806196329356 0.990301546878208 0.949181755085884 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.117669306914669 0.0284149439778316 0.994397571921562 0.876139629639634 NA 0.0730421254462502 NA FALSE NA 0 0.635 . intron_variant MODIFIER LDB2 HGNC 6533 ENST00000503178 4/6 1 NA ATT T,C 1.647e-05 4:16585912 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 intron_variant 0.947917 0.29342 0.05395 0.048788 0.695388572582153 0.210312 0.97606785748877 TRUE 2.43849e-05 ENSE00001133529_006 ENSE00001133529 006 4 16587507 16587676 - 38 84 48 A T 16587538 614 139 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGAACAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585914 16585915 16585915 downstr_intron 7 1.18918918918919 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGAACAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 1641 2914 0.978620659219479 0.997327294410288 0.987973976814884 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.188228002840588 0.0354406915099119 0.994397571921562 0.876139629639634 NA 0.11183434717525 NA FALSE NA 0.007 0.127 . splice_region_variant&intron_variant LOW LDB2 HGNC 6533 ENST00000503178 4/6 1 NA GAT A,T 1.647e-05 4:16585915 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 splice_region_variant 0.944757 0.25198 0.02504 0.048788 0.659748905423353 0.210312 0.97606785748877 TRUE 4.06322e-06 ENSE00001133529_007 ENSE00001133529 007 4 16587507 16587676 - 38 84 48 G T 16587557 615 120 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTAAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585933 16585934 16585934 exon -13 0.857142857142857 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTAAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 2626 2415 0.989894969185164 0.997533811398467 0.993714390291815 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.199502312806272 0.0356472084980902 0.994397571921562 0.876139629639634 NA 0.117574760652181 NA FALSE NA 1 7.829 . synonymous_variant LOW LDB2 HGNC 6533 ENST00000503178 4/7 1 NA TGA G,T 8.236e-06 4:16585934 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 synonymous_variant 0.798142 0.99595 0.98735 0.722319 0.807822902684172 0 0.97606785748877 TRUE 8.12585e-06 ENSE00001133529_008 ENSE00001133529 008 4 16587507 16587676 - 38 84 48 T G 16587567 616 110 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAACCTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585943 16585944 16585944 exon -23 0.738095238095238 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAACCTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 4397 394 0.941434537281288 0.982411641528568 0.961923089404928 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.151041880902397 0.0205250386281911 0.994397571921562 0.876139629639634 NA 0.0857834597652941 NA FALSE NA 1 6.234 . missense_variant MODERATE LDB2 HGNC 6533 ENST00000503178 4/7 1 probably_damaging(0.998) NA GTT T,G 8.236e-06 4:16585944 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 missense_variant 4.860427 0.99432 0.97996 0.722319 0.996358832636746 0 0.97606785748877 TRUE 4.06223e-06 ENSE00001133529_009 ENSE00001133529 009 4 16587507 16587676 - 38 84 48 T C 16587568 617 109 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAGACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585944 16585945 16585945 exon -24 0.726190476190476 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAGACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 2571 1406 0.973661737803365 0.947397769378759 0.960529753591062 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.183269081424474 -0.0144888335216175 0.994397571921562 0.876139629639634 NA 0.0843901239514283 NA FALSE NA 1 7.996 . missense_variant MODERATE LDB2 HGNC 6533 ENST00000503178 4/7 1 probably_damaging(0.998) NA TTT T,C 8.236e-06 4:16585945 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 missense_variant 4.944144 0.99415 0.98358 0.722319 0.998305008288612 0 0.97606785748877 TRUE 4.0621e-06 ENSE00001133529_010 ENSE00001133529 010 4 16587507 16587676 - 38 84 48 T C 16587580 618 97 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGGTGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585956 16585957 16585957 exon -36 0.583333333333333 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGGTGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 1007 1850 0.955629998451473 0.963439705051082 0.959534851751278 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.165237342072582 0.00155310215070581 0.994397571921562 0.876139629639634 NA 0.0833952221116438 NA FALSE NA 1 4.196 . missense_variant MODERATE LDB2 HGNC 6533 ENST00000503178 4/7 COSM1633540&COSM1633541 1 benign(0.042) NA ATC T,C 8.236e-06 4:16585957 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 missense_variant 1.516634 0.99415 0.95622 0.722319 0.951347502189741 0 0.97606785748877 TRUE 4.062e-06 ENSE00001133529_011 ENSE00001133529 011 4 16587507 16587676 - 38 84 48 G A 16587584 619 93 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACTAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585960 16585961 16585961 exon -40 0.535714285714286 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACTAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 1202 2498 0.985438945832462 0.996993972639866 0.991216459236164 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.195046289453571 0.0351073697394894 0.994397571921562 0.876139629639634 NA 0.11507682959653 NA FALSE NA 1 1.014 . synonymous_variant LOW LDB2 HGNC 6533 ENST00000503178 4/7 1 NA TGG G,A 1.647e-05 4:16585961 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 synonymous_variant 1.200963 0.98386 0.85567 0.722319 0.663507126853064 0 0.97606785748877 TRUE 8.1242e-06 ENSE00001133529_012 ENSE00001133529 012 4 16587507 16587676 - 38 84 48 C T 16587608 620 69 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTAGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585984 16585985 16585985 exon 21 0.25 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTAGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 1815 462 0.883829769785073 0.736935220228345 0.810382495006709 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.0934371134061822 -0.224951382672031 0.994397571921562 0.876139629639634 NA -0.0657571346329245 NA FALSE NA 1 4.039 . synonymous_variant LOW LDB2 HGNC 6533 ENST00000503178 4/7 1 NA CCA C,T 8.236e-06 4:16585985 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 synonymous_variant 1.759463 0.99283 0.95347 0.706298 0.796333054010357 0 0.97606785748877 TRUE 4.0624e-06 ENSE00001133529_013 ENSE00001133529 013 4 16587507 16587676 - 38 84 48 G A 16587618 621 59 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCTTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16585994 16585995 16585995 exon 11 0.130952380952381 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCTTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 2397 1294 0.996741454917669 0.995859231293071 0.99630034310537 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.206348798538778 0.0339726283926943 0.994397571921562 0.876139629639634 NA 0.120160713465736 NA FALSE NA 1 9.814 . missense_variant MODERATE LDB2 HGNC 6533 ENST00000503178 4/7 1 probably_damaging(1) NA AGG G,A 8.236e-06 4:16585995 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 missense_variant 7.043941 0.99585 0.99169 0.706298 0.998376288525894 0 0.97606785748877 TRUE NA ENSE00001133529_014 ENSE00001133529 014 4 16587507 16587676 - 38 84 48 A G 16587633 622 44 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCACTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16586009 16586010 16586010 upstr_intron -5 -0.0833333333333333 GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCACTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 2332 2868 0.999123642616728 0.961049178184093 0.980086410400411 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.208730986237837 -0.00083742471628323 0.994397571921562 0.876139629639634 NA 0.103946780760777 NA FALSE NA 0.01 0.991 . splice_region_variant&intron_variant LOW LDB2 HGNC 6533 ENST00000503178 3/6 rs201806149 1 NA G:0 G:0.0001 AAT A,G 1.647e-05 4:16586010 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 splice_region_variant 0.702296 0.97662 0.39617 0.057505 0.669054614506244 0.783424 0.97606785748877 TRUE 4.06306e-06 ENSE00001133529_015 ENSE00001133529 015 4 16587507 16587676 - 38 84 48 C A 16587645 623 32 GACCGTCCTGTAGTGATAAAATACATGTGGGTTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16586021 16586022 16586022 upstr_intron -17 -0.333333333333333 GACCGTCCTGTAGTGATAAAATACATGTGGGTTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 2801 2964 0.996556480812567 0.891599142164574 0.944077811488571 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.206163824433676 -0.0702874607358027 0.994397571921562 0.876139629639634 NA 0.0679381818489367 NA FALSE NA 0.003 0.832 . intron_variant MODIFIER LDB2 HGNC 6533 ENST00000503178 3/6 rs199916286 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 A:0.0005 A:0.0007 ACC C,A 0.001038 4:16586022 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 intron_variant -0.188443 0.16583 0.01275 0.057505 0.254259177113339 0.11735 0.97606785748877 TRUE 0.00108125 ENSE00001133529_017 ENSE00001133529 017 4 16587507 16587676 - 38 84 48 T G 16587656 625 21 GACCGTCCTGTAGTGATAAACTACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 16586032 16586033 16586033 upstr_intron -28 -0.5625 GACCGTCCTGTAGTGATAAACTACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT mutant NA NA NA NA NA 2343 2072 0.998012242182452 0.999905284425484 0.998958763303968 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 NA NA 0.207619585803561 0.0380186815251075 0.994397571921562 0.876139629639634 NA 0.122819133664334 NA FALSE NA 0.977 0.869 . intron_variant MODIFIER LDB2 HGNC 6533 ENST00000503178 3/6 1 NA ATT T,G 8.236e-06 4:16586033 LDB2 HGNC Symbol protein_coding 397268 ENSG00000169744 ENSE00003577402 intron_variant 0.238459 0.34138 0.50828 0.057505 0.621514534809713 0.11735 0.97606785748877 TRUE 4.06573e-06 ENSE00001133529_BRK ENSE00001133529 BRK 4 16587507 16587676 - 38 84 48 A,G; T,T NA NA NA GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTTTGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGCCAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT 16585883 16586053 NA NA NA NA NA NA GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTTTGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGCCAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT GACCGTCCTGTAGTGATAAAATACATGTGGGGTTTTTTTTCCATTTAGGCACAAGATCCTCAGGTCCTGGATCAGCTGTCCAAAAACATCACCAGGATGGGGCTAACAAACTTCACCCTCAACTACCTCAGGGTAAGATCAATCGAATGATTTTATTTTTTGGTGAGTTT control 599 267 0 0 0 490 695 0 0.0564750280337931 0.0282375140168965 0.995582564903985 0.993212578939139 0.790392656378891 0.961886602900377 -0.995582564903985 -0.993212578939139 -0.790392656378891 -0.905411574866584 0.994397571921562 0.876139629639634 -0.994397571921562 -0.847902115622737 0.146495456298825 TRUE TRUE NA NA NA NA NA LDB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LDB2 NA NA NA ENSG00000169744 ENSE00003577402 NA NA NA NA NA NA NA 0.97606785748877 TRUE NA ENSE00001133974_000 ENSE00001133974 000 9 136642469 136642638 - 42 75 53 NA NA NA NA NA TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 NA NA NA NA NA NA TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG natural 291 558 0.840524218382623 0.857586148680208 0.849055183531416 755 1027 0.82379158754525 0.84962648068085 0.83670903411305 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 0 0 0 0 0.849055183531416 0.83670903411305 0 0 0 FALSE FALSE NA NA NA NA NA VAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV2 NA NA NA ENSG00000160293 ENSE00001133974 NA NA NA NA NA NA NA 0.00251877000405443 FALSE NA ENSE00001133974_003 ENSE00001133974 003 9 136642469 136642638 - 42 75 53 G A 136642489 3333 150 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGTTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777366 133777367 133777367 downstr_intron 22 1.53658536585366 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGTTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 121 14 0.967871521543268 1 0.983935760771634 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.144079933998018 0.15037351931915 0.849055183531416 0.83670903411305 NA 0.147226726658584 NA FALSE NA 0.001 0.299 rs41302907 intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 23/29 rs41302907 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0006 AGC G,A 0.0001647 9:133777367 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 intron_variant 0.813511 0.52855 0.15178 0.115753 0.839632368245957 0.344519 0.00251877000405443 FALSE 0.00014656 ENSE00001133974_004 ENSE00001133974 004 9 136642469 136642638 - 42 75 53 G C 136642495 3334 144 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCAGAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777372 133777373 133777373 downstr_intron 16 1.39024390243902 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCAGAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 353 35 1 1 1 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.17620841245475 0.15037351931915 0.849055183531416 0.83670903411305 NA 0.16329096588695 NA FALSE NA 0 -3.046 . intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 23/29 1 NA TGT G,C 8.236e-06 9:133777373 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 intron_variant 0.451684 0.09498 0.02684 0.256867 0.660753714091122 0.344519 0.00251877000405443 FALSE 4.06808e-06 ENSE00001133974_006 ENSE00001133974 006 9 136642469 136642638 - 42 75 53 C T 136642508 3336 131 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTAAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777385 133777386 133777386 downstr_intron 3 1.07317073170732 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTAAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 107 252 0.989970119902127 0.995815406009726 0.992892762955927 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.166178532356877 0.146188925328876 0.849055183531416 0.83670903411305 NA 0.156183728842877 NA FALSE NA 0.999 0.184 . splice_region_variant&intron_variant LOW VAV2 HGNC 12658 ENST00000371850 23/29 1 NA TCA C,T 5.765e-05 9:133777386 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 splice_region_variant 2.184647 0.96126 0.39352 0.256867 0.86062810031123 0.548003 0.00251877000405443 FALSE 5.28387e-05 ENSE00001133974_007 ENSE00001133974 007 9 136642469 136642638 - 42 75 53 C T 136642511 3337 128 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGAGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777388 133777389 133777389 exon -1 1 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGAGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 72 40 0.8 0.84230244926882 0.82115122463441 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA -0.0237915875452499 -0.00732403141202931 0.849055183531416 0.83670903411305 NA -0.0155578094786396 NA FALSE NA 1 2.623 . splice_region_variant&synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 23/30 1 NA CCC C,T 8.236e-06 9:133777389 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 splice_region_variant 1.966777 0.97638 0.95932 0.736574 0.848565603995138 0 0.00251877000405443 FALSE 4.06372e-06 ENSE00001133974_008 ENSE00001133974 008 9 136642469 136642638 - 42 75 53 T C 136642513 3338 126 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAGGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777390 133777391 133777391 exon -3 0.973333333333333 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAGGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 157 60 0.973746091204606 0.95 0.961873045602303 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.149954503659356 0.100373519319151 0.849055183531416 0.83670903411305 NA 0.125164011489253 NA FALSE NA 1 1.439 . missense_variant&splice_region_variant MODERATE VAV2 HGNC 12658 ENST00000371850 23/30 1 deleterious(0.01) benign(0.345) NA CTT T,C 8.236e-06 9:133777391 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 missense_variant 2.547203 0.96739 0.96913 0.736574 0.984928222511038 0 0.00251877000405443 FALSE 4.06312e-06 ENSE00001133974_009 ENSE00001133974 009 9 136642469 136642638 - 42 75 53 C T 136642516 3339 123 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATAGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777393 133777394 133777394 exon -6 0.933333333333333 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATAGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 46 41 1 0.985850992049182 0.992925496024591 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.17620841245475 0.136224511368332 0.849055183531416 0.83670903411305 NA 0.156216461911541 NA FALSE NA 0.999 3.567 . missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 23/30 1 tolerated(0.1) possibly_damaging(0.628) NA CCA C,T 8.236e-06 9:133777394 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 missense_variant 5.466361 0.98317 0.9766 0.736574 0.99874555879156 0 0.00251877000405443 FALSE NA ENSE00001133974_013 ENSE00001133974 013 9 136642469 136642638 - 42 75 53 G A 136642526 3343 113 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGTCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777403 133777404 133777404 exon -16 0.8 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGTCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 12 501 0.8 0.650949583455918 0.725474791727959 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA -0.0237915875452499 -0.198676897224931 0.849055183531416 0.83670903411305 NA -0.11123424238509 NA FALSE NA 0.999 0.328 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 23/30 1 NA GGC G,A 8.236e-06 9:133777404 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 synonymous_variant 1.156641 0.95044 0.5197 0.736574 0.630008634229899 0 0.00251877000405443 FALSE 2.03057e-05 ENSE00001133974_014 ENSE00001133974 014 9 136642469 136642638 - 42 75 53 G A 136642529 3344 110 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCTTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777406 133777407 133777407 exon -19 0.76 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCTTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 141 30 0.85131631996351 1 0.925658159981755 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.02752473241826 0.15037351931915 0.849055183531416 0.83670903411305 NA 0.0889491258687052 NA FALSE NA 0.965 -0.155 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 23/30 1 NA AGG G,A 8.236e-06 9:133777407 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 synonymous_variant 1.280827 0.97127 0.8479 0.736574 0.75052492678648 0 0.00251877000405443 FALSE 4.06108e-06 ENSE00001133974_017 ENSE00001133974 017 9 136642469 136642638 - 42 75 53 C T 136642556 3347 83 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGATATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777433 133777434 133777434 exon 30 0.4 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGATATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 79 37 1 1 1 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.17620841245475 0.15037351931915 0.849055183531416 0.83670903411305 NA 0.16329096588695 NA FALSE NA 0.071 -1.13 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 23/30 1 NA ACC C,T 1.647e-05 9:133777434 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 synonymous_variant 2.1739 0.95914 0.19472 0.736574 0.686260351443651 0 0.00251877000405443 FALSE 8.12242e-06 ENSE00001133974_018 ENSE00001133974 018 9 136642469 136642638 - 42 75 53 T G 136642571 3348 68 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACACACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777448 133777449 133777449 exon 15 0.2 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACACACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 587 244 0.961610816164389 0.906678174742622 0.934144495453506 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.137819228619139 0.0570516940617727 0.849055183531416 0.83670903411305 NA 0.0974354613404558 NA FALSE NA 0.141 -0.907 rs137947314 missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 23/30 rs137947314 1 tolerated(0.13) benign(0.033) NA G:0.0009 G:0 TTT T,G 9.884e-05 9:133777449 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 missense_variant 1.008341 0.85703 0.24768 0.736574 0.993148928888975 0 0.00251877000405443 FALSE 5.27983e-05 ENSE00001133974_025 ENSE00001133974 025 9 136642469 136642638 - 42 75 53 G A 136642595 3355 44 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTTCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777472 133777473 133777473 upstr_intron -10 -0.169811320754717 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTTCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 49 19 0.996857710078117 1 0.998428855039059 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.173066122532867 0.15037351931915 0.849055183531416 0.83670903411305 NA 0.161719820926009 NA FALSE NA 0.001 0.901 . intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 22/29 1 NA GGA G,A 8.236e-06 9:133777473 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 intron_variant 0.056926 0.19657 0.03696 0.084033 0.386332207255795 0.160011 0.00251877000405443 FALSE 4.06478e-06 ENSE00001133974_026 ENSE00001133974 026 9 136642469 136642638 - 42 75 53 T C 136642603 3356 36 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCGTCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777480 133777481 133777481 upstr_intron -18 -0.320754716981132 TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCGTCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 19 106 0.965130506677453 0.801362560897568 0.883246533787511 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.141338919132204 -0.0482639197832819 0.849055183531416 0.83670903411305 NA 0.0465374996744608 NA FALSE NA 0 -2.288 . intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 22/29 1 NA ATG T,C 8.236e-06 9:133777481 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 intron_variant -0.366343 0.10774 0.01675 0.069865 0.405185827199617 0.0840352 0.00251877000405443 FALSE NA ENSE00001133974_031 ENSE00001133974 031 9 136642469 136642638 - 42 75 53 G C 136642622 3361 17 TCCCATAGGCCAGGCTGGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 133777499 133777500 133777500 upstr_intron -37 -0.679245283018868 TCCCATAGGCCAGGCTGGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG mutant NA NA NA NA NA 25 198 0.95 0.89412238441297 0.922061192206485 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 NA NA 0.12620841245475 0.0444959037321208 0.849055183531416 0.83670903411305 NA 0.0853521580934354 NA FALSE NA 0 -2.927 NA NA NA VAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:133777500 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001133974 intron_variant -0.147188 0.18248 0.01387 0.069865 0.777432997426548 0.0476527 0.00251877000405443 FALSE 2.04608e-05 ENSE00001133974_BRK ENSE00001133974 BRK 9 136642469 136642638 - 42 75 53 A,G; T,T NA NA NA TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCTTGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGCCGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG 133777346 133777516 NA NA NA NA NA NA TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCTTGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGCCGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG TCCCATAGGCCAGGCTCGGCCCCCTTGTCCTAACCATCTCTTTCCTCTGCCAGGGTCGTCTGGTACAAACCAGGAAGTCAGGGTATTTCCCCAGCTCATCTGTGAAGCCCTGCCCTGTGGATGGAAGGGTGAGTCCTTTCCCACAGAAGCTTCTGGAGCACGGTGGCCTG control 47 29 0 0 0 NA NA NA NA NA 0.840524218382623 0.857586148680208 0.82379158754525 0.84962648068085 -0.840524218382623 -0.857586148680208 NA NA 0.849055183531416 0.83670903411305 -0.849055183531416 NA NA NA TRUE NA NA NA NA NA VAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV2 NA NA NA ENSG00000160293 ENSE00001133974 NA NA NA NA NA NA NA 0.00251877000405443 FALSE NA ENSE00001134002_000 ENSE00001134002 000 9 136656869 136657038 - 36 87 47 NA NA NA NA NA CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 NA NA NA NA NA NA ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG natural 162 112 0.953452623468135 0.994028664287253 0.973740643877694 4849 3382 0.989945105587229 0.986531562482601 0.988238334034915 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 0 0 0 0 0.973740643877694 0.988238334034915 0 0 0 FALSE FALSE NA NA NA NA NA VAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV2 NA NA NA ENSG00000160293 ENSE00001134002 NA NA NA NA NA NA NA 0.00251877000405443 FALSE NA ENSE00001134002_001 ENSE00001134002 001 9 136656869 136657038 - 36 87 47 A T 136656887 3362 152 CGACCTTCCCTAGCCTGATGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791764 133791765 133791765 downstr_intron 18 1.51428571428571 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCATCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 995 470 0.999003104263867 0.922695427656802 0.960849265960334 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.0090579986766377 -0.0638361348257994 0.973740643877694 0.988238334034915 NA -0.0273890680745809 NA FALSE NA 0 -0.621 . intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 13/29 rs376136319 1 NA T:0.0002 T:0 AAG A,T 8.237e-06 9:133791765 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 intron_variant -0.205466 0.0998 0.37759 0.256867 0.404238297081739 0.0561372 0.00251877000405443 FALSE 4.06108e-06 ENSE00001134002_002 ENSE00001134002 002 9 136656869 136657038 - 36 87 47 T C 136656895 3363 144 CGACCTTCCCTAGCCTGAAGAGTCAGCCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791772 133791773 133791773 downstr_intron 10 1.28571428571429 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGGCTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 10 13 1 0.987635480263743 0.993817740131872 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.0100548944127709 0.00110391778114227 0.973740643877694 0.988238334034915 NA 0.00557940609695656 NA FALSE NA 0 -1.018 . intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 13/29 1 NA GTC T,C 8.237e-06 9:133791773 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 intron_variant -0.678065 0.11535 0.11836 0.256867 0.174595096195936 0.0836166 0.00251877000405443 FALSE 4.06085e-06 ENSE00001134002_004 ENSE00001134002 004 9 136656869 136657038 - 36 87 47 T C 136656914 3365 125 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCCATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791791 133791792 133791792 exon -10 0.896551724137931 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATGGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 1965 135 0.998276139985041 1 0.999138069992521 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.00833103439781202 0.013468437517399 0.973740643877694 0.988238334034915 NA 0.0108997359576055 NA FALSE NA 0.441 -0.137 . missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 13/30 1 deleterious(0) benign(0.43) NA CTA T,C 8.237e-06 9:133791792 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 missense_variant 2.039208 0.83193 0.96961 0.722319 0.993367169717155 0 0.00251877000405443 FALSE 4.06065e-06 ENSE00001134002_005 ENSE00001134002 005 9 136656869 136657038 - 36 87 47 T C 136656916 3366 123 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTACAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791793 133791794 133791794 exon -12 0.873563218390805 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTGTAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 105 45 1 1 1 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.0100548944127709 0.013468437517399 0.973740643877694 0.988238334034915 NA 0.0117616659650849 NA FALSE NA 1 7.468 rs138063876 missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 13/30 rs138063876 1 deleterious(0.04) benign(0.024) NA C:0 C:0.0001 ATA T,C 9.06e-05 9:133791794 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 missense_variant 1.542169 0.92565 0.99618 0.722319 0.998335664932146 0 0.00251877000405443 FALSE 5.27876e-05 ENSE00001134002_006 ENSE00001134002 006 9 136656869 136657038 - 36 87 47 A G 136656920 3367 119 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAGCTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791797 133791798 133791798 exon -16 0.827586206896552 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGCTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 151 408 0.996962935477386 1 0.998481467738693 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.00701782989015654 0.013468437517399 0.973740643877694 0.988238334034915 NA 0.0102431337037778 NA FALSE NA 0.522 -0.123 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 13/30 1 NA AAC A,G 8.237e-06 9:133791798 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 synonymous_variant 0.149047 0.81921 0.69836 0.722319 0.561169836040758 0 0.00251877000405443 FALSE NA ENSE00001134002_008 ENSE00001134002 008 9 136656869 136657038 - 36 87 47 G A 136656932 3369 107 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCACTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791809 133791810 133791810 exon -28 0.689655172413793 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGTGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 51 11 0.935704532854363 0.99646350907926 0.966084020966811 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA -0.054240572732866 0.00993194659665875 0.973740643877694 0.988238334034915 NA -0.0221543130681036 NA FALSE NA 0.177 -0.108 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 13/30 rs373038750 1 NA A:0.0002 A:0.0001 CGC G,A 2.471e-05 9:133791810 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 synonymous_variant 1.288217 0.76091 0.75348 0.722319 0.8784165797352 0 0.00251877000405443 FALSE 3.24852e-05 ENSE00001134002_009 ENSE00001134002 009 9 136656869 136657038 - 36 87 47 A G 136656946 3370 93 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAGGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791823 133791824 133791824 exon -42 0.528735632183908 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCCTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 176 649 0.999765939411989 0.999756236388276 0.999761087900132 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.00982083382475984 0.0132246739056747 0.973740643877694 0.988238334034915 NA 0.0115227538652173 NA FALSE NA 0.913 2.057 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 13/30 rs376278542 1 NA G:0.0002 G:0 AAG A,G 8.237e-06 9:133791824 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 synonymous_variant 0.366459 0.86274 0.83152 0.722319 0.778646349424577 0 0.00251877000405443 FALSE 8.12123e-06 ENSE00001134002_010 ENSE00001134002 010 9 136656869 136657038 - 36 87 47 T C 136656949 3371 90 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGCCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791826 133791827 133791827 exon 43 0.494252873563218 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGGCCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 531 259 0.99890989493772 0.993416730092145 0.996163312514933 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.00896478935049061 0.00688516760954427 0.973740643877694 0.988238334034915 NA 0.00792497848001744 NA FALSE NA 1 6.078 . missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 13/30 1 deleterious(0.01) benign(0.006) NA GTC T,C 8.237e-06 9:133791827 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 missense_variant 3.355278 0.93587 0.9903 0.722319 0.991792506845495 0 0.00251877000405443 FALSE 4.06065e-06 ENSE00001134002_011 ENSE00001134002 011 9 136656869 136657038 - 36 87 47 C G 136656952 3372 87 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTGCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791829 133791830 133791830 exon 40 0.459770114942529 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGCAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 37 134 1 1 1 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.0100548944127709 0.013468437517399 0.973740643877694 0.988238334034915 NA 0.0117616659650849 NA FALSE NA 1 7.59 . missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 13/30 1 deleterious(0) benign(0.398) NA TCC C,G 8.237e-06 9:133791830 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 missense_variant 4.576148 0.94932 0.99486 0.722319 0.996652256729893 0 0.00251877000405443 FALSE 4.06065e-06 ENSE00001134002_013 ENSE00001134002 013 9 136656869 136657038 - 36 87 47 A G 136656971 3374 68 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCGTTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791848 133791849 133791849 exon 21 0.241379310344828 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAACGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 1347 97 0.875790432768698 1 0.937895216384349 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA -0.114154672818532 0.013468437517399 0.973740643877694 0.988238334034915 NA -0.0503431176505663 NA FALSE NA 0.403 -0.219 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 13/30 1 NA CAT A,G 8.237e-06 9:133791849 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 synonymous_variant 0.525251 0.81402 0.53701 0.722319 0.668294631224743 0 0.00251877000405443 FALSE 4.06068e-06 ENSE00001134002_014 ENSE00001134002 014 9 136656869 136657038 - 36 87 47 G A 136656974 3375 65 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTAATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791851 133791852 133791852 exon 18 0.206896551724138 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATTAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 272 75 1 1 1 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.0100548944127709 0.013468437517399 0.973740643877694 0.988238334034915 NA 0.0117616659650849 NA FALSE NA 0.967 0.055 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 13/30 1 NA TGA G,A 8.237e-06 9:133791852 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 synonymous_variant 1.402156 0.76249 0.92247 0.722319 0.84485785311209 0 0.00251877000405443 FALSE 4.06068e-06 ENSE00001134002_015 ENSE00001134002 015 9 136656869 136657038 - 36 87 47 T C 136656976 3376 63 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGACGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791853 133791854 133791854 exon 16 0.183908045977011 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACGTCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 88 412 0.988207331131622 1 0.994103665565811 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA -0.00173777445560763 0.013468437517399 0.973740643877694 0.988238334034915 NA 0.00586533153089569 NA FALSE NA 1 4.815 . missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 13/30 1 tolerated(1) benign(0.093) NA ATG T,C 8.237e-06 9:133791854 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 missense_variant 0.470312 0.91009 0.97902 0.722319 0.786390466842097 0 0.00251877000405443 FALSE 4.06068e-06 ENSE00001134002_017 ENSE00001134002 017 9 136656869 136657038 - 36 87 47 G A 136656984 3378 55 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCACCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791861 133791862 133791862 exon 8 0.0919540229885057 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGTGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 161 102 1 0.998446307094354 0.999223153547177 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.0100548944127709 0.0119147446117528 0.973740643877694 0.988238334034915 NA 0.0109848195122618 NA FALSE NA 1 9.568 . missense_variant MODERATE VAV2 HGNC 12658 ENST00000371850 13/30 1 deleterious(0) possibly_damaging(0.892) NA CGC G,A 8.237e-06 9:133791862 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 missense_variant 5.994057 0.94726 0.99541 0.722319 0.998547161420415 0 0.00251877000405443 FALSE 1.62434e-05 ENSE00001134002_018 ENSE00001134002 018 9 136656869 136657038 - 36 87 47 C T 136656986 3379 53 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCTAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791863 133791864 133791864 exon 6 0.0689655172413793 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTAGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 116 101 1 1 1 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.0100548944127709 0.013468437517399 0.973740643877694 0.988238334034915 NA 0.0117616659650849 NA FALSE NA 1 2.306 . synonymous_variant LOW VAV2 HGNC 12658 ENST00000371850 13/30 rs550190371 1 T:0.0026 T:0 T:0 NA T:0 T:0 T:0.0133 CCA C,T 0.0007825 9:133791864 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 synonymous_variant 0.30882 0.86165 0.96771 0.722319 0.726643668200442 0 0.00251877000405443 FALSE 0.000633492 ENSE00001134002_019 ENSE00001134002 019 9 136656869 136657038 - 36 87 47 G C 136656995 3380 44 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTCAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791872 133791873 133791873 upstr_intron -4 -0.0638297872340425 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTGAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 1502 34 0.998261018897849 1 0.999130509448924 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.00831591331061987 0.013468437517399 0.973740643877694 0.988238334034915 NA 0.0108921754140094 NA FALSE NA 0.001 0.684 . splice_region_variant&intron_variant LOW VAV2 HGNC 12658 ENST00000371850 12/29 1 NA TGA G,C 1.647e-05 9:133791873 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 splice_region_variant -0.210346 0.17408 0.57607 0.156188 0.447032993655429 0.415208 0.00251877000405443 FALSE 1.62483e-05 ENSE00001134002_020 ENSE00001134002 020 9 136656869 136657038 - 36 87 47 C G 136657000 3381 39 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAAGAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 133791877 133791878 133791878 upstr_intron -9 -0.170212765957447 ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTCTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 53 58 0.95355765053228 1 0.97677882526614 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA -0.0363874550549493 0.013468437517399 0.973740643877694 0.988238334034915 NA -0.0114595087687752 NA FALSE NA 0 0.084 . intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 12/29 1 NA ACA C,G 8.237e-06 9:133791878 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 intron_variant -0.194758 0.14683 0.2481 0.099367 0.44137902929632 0.253975 0.00251877000405443 FALSE 4.06425e-06 ENSE00001134002_024 ENSE00001134002 024 9 136656869 136657038 - 36 87 47 C T 136657026 3385 13 CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCACCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCCTTGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGTTGGGTGGGGTGT 133791746 133791916 133791903 133791904 133791904 upstr_intron -35 -0.723404255319149 ACACCCCACCCAACACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG mutant NA NA NA NA NA 860 1094 0.999011628813855 0.998450136850022 0.998730882831939 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 NA NA 0.00906652322662627 0.0119185743674215 0.973740643877694 0.988238334034915 NA 0.0104925487970239 NA FALSE NA 0 -0.32 . intron_variant MODIFIER VAV2 HGNC 12658 ENST00000371850 12/29 1 NA GCT C,T 8.237e-06 9:133791904 VAV2 HGNC Symbol protein_coding 230710 ENSG00000160293 ENSE00001134002 intron_variant 0.124955 0.10778 0.16156 0.099367 0.595640861542754 0.0583435 0.00251877000405443 FALSE 8.13478e-06 ENSE00001134002_BRK ENSE00001134002 BRK 9 136656869 136657038 - 36 87 47 A,G; T,T NA NA NA CGACCTTCCCTAGCCTGAAGAGTCAGTCTCACTCGGCAAATTTTCTATAGAACTCTGAAATTCGCTGATTTTCCTCAAGGTCTCCTTGTCCCGTTTAACTTCATTGATGTACATCGCCAAGTCAATGAAAACAAGAGGCAGAGGTGAGCGGGCTGTGCTGGGTGGGGTGT 133791746 133791916 NA NA NA NA NA NA ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCATTGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGCCGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG ACACCCCACCCAGCACAGCCCGCTCACCTCTGCCTCTTGTTTTCAAGGACTTGGCGATGTACATCAATGAAGTTAAACGGGACAAGGAGACCTTGAGGAAAATCAGCGAATTTCAGAGTTCTATAGAAAATTTGGTGAGTGAGACTGACTCTTCAGGCTAGGGAAGGTCG control 260 380 0 0 0 1395 126 0.0038997529656982 0 0.0019498764828491 0.953452623468135 0.994028664287253 0.989945105587229 0.986531562482601 -0.953452623468135 -0.994028664287253 -0.986045352621531 -0.986531562482601 0.973740643877694 0.988238334034915 -0.973740643877694 -0.986288457552066 0.0125478136743721 TRUE TRUE NA NA NA NA NA VAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAV2 NA NA NA ENSG00000160293 ENSE00001134002 NA NA NA NA NA NA NA 0.00251877000405443 FALSE NA ENSE00001134331_000 ENSE00001134331 000 2 228235584 228235753 - 47 66 57 NA NA NA NA NA TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 NA NA NA NA NA NA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA natural NA NA NA NA NA 465 155 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA TM4SF20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF20 NA NA NA ENSG00000168955 ENSE00001134331 NA NA NA NA NA NA NA 2.18814392829867e-06 FALSE NA ENSE00001134331_002 ENSE00001134331 002 2 228235584 228235753 - 47 66 57 C T 228235601 5103 153 TAACTGTTCATGCACTTTTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370884 227370885 227370885 downstr_intron 30 1.65217391304348 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAAAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 151 2472 1 0.999936017408475 0.999968008704238 NA NA 1 1 NA NA 0 -6.39825915248471e-05 NA 1 NA -3.19912957624235e-05 NA FALSE NA 0 -0.003 . intron_variant MODIFIER TM4SF20 HGNC 26230 ENST00000304568 2/3 rs200430746 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 TCT C 1.647e-05 2:227370885 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant 0.60349 0.29699 0.17598 0.053691 0.821339121907109 0.12566 2.18814392829867e-06 FALSE 8.13246e-06 ENSE00001134331_003 ENSE00001134331 003 2 228235584 228235753 - 47 66 57 C G 228235610 5104 144 TAACTGTTCATGCACTTCTGCTTCCAGGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370893 227370894 227370894 downstr_intron 21 1.45652173913043 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCCTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 14 142 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0 -2.93 NA NA NA TM4SF20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:227370894 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant -0.20547 0.16091 0.02801 0.053691 0.456379027329158 0.12566 2.18814392829867e-06 FALSE 0.000146351 ENSE00001134331_010 ENSE00001134331 010 2 228235584 228235753 - 47 66 57 G A 228235618 5111 136 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTACTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370901 227370902 227370902 downstr_intron 13 1.28260869565217 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGTAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 159 154 1 0.998971644456631 0.999485822228316 NA NA 1 1 NA NA 0 -0.00102835554336889 NA 1 NA -0.000514177771684443 NA FALSE NA 0 -0.286 rs73090139 intron_variant MODIFIER TM4SF20 HGNC 26230 ENST00000304568 2/3 rs73090139 1 A:0.0310 A:0.1142 A:0.0043 NA A:0 A:0.001 A:0 A:0.1028 A:0.0008 TGC G 0.01 2:227370902 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant -0.108271 0.28307 0.13144 0.053691 0.645977954720484 0.102544 2.18814392829867e-06 FALSE 0.00800514 ENSE00001134331_015 ENSE00001134331 015 2 228235584 228235753 - 47 66 57 G A 228235640 5116 114 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTATTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370923 227370924 227370924 exon -10 0.863636363636364 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAATAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 34 37 1 0.95 0.975 NA NA 1 1 NA NA 0 -0.05 NA 1 NA -0.025 NA FALSE NA 0.995 1.096 rs149852260 synonymous_variant LOW TM4SF20 HGNC 26230 ENST00000304568 2/4 rs149852260 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TGT G 1.647e-05 2:227370924 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 synonymous_variant -0.362282 0.86276 0.75665 0.487112 0.622396314487511 0 2.18814392829867e-06 FALSE 1.62466e-05 ENSE00001134331_017 ENSE00001134331 017 2 228235584 228235753 - 47 66 57 A T 228235651 5118 103 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCTCGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370934 227370935 227370935 exon -21 0.696969696969697 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGAGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 671 125 0.99695767081202 1 0.99847883540601 NA NA 1 1 NA NA -0.00304232918797975 0 NA 1 NA -0.00152116459398988 NA FALSE NA 0.966 2.439 . missense_variant MODERATE TM4SF20 HGNC 26230 ENST00000304568 2/4 1 tolerated(0.21) probably_damaging(1) NA CAC A 8.236e-06 2:227370935 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 missense_variant 2.468898 0.93006 0.79236 0.487112 0.92995310776933 0 2.18814392829867e-06 FALSE 1.21835e-05 ENSE00001134331_025 ENSE00001134331 025 2 228235584 228235753 - 47 66 57 T G 228235685 5126 69 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTGGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370968 227370969 227370969 exon 12 0.181818181818182 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCCACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 100 47 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.997 0.69 . synonymous_variant LOW TM4SF20 HGNC 26230 ENST00000304568 2/4 1 NA TTG T 8.236e-06 2:227370969 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 synonymous_variant -0.530109 0.91399 0.77375 0.487112 0.547190244983999 0 2.18814392829867e-06 FALSE 8.12156e-06 ENSE00001134331_029 ENSE00001134331 029 2 228235584 228235753 - 47 66 57 A G 228235706 5130 48 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGGCATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370989 227370990 227370990 upstr_intron -10 -0.157894736842105 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGCCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 373 13 1 0.8 0.9 NA NA 1 1 NA NA 0 -0.2 NA 1 NA -0.1 NA FALSE NA 0.328 2.173 . intron_variant MODIFIER TM4SF20 HGNC 26230 ENST00000304568 1/3 1 NA GAC A 8.236e-06 2:227370990 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant 0.164603 0.31684 0.40474 0.053691 0.557775388159112 0.102287 2.18814392829867e-06 FALSE 8.12183e-06 ENSE00001134331_030 ENSE00001134331 030 2 228235584 228235753 - 47 66 57 C A 228235707 5131 47 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGAAATCAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370990 227370991 227370991 upstr_intron -11 -0.175438596491228 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATTTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 127 30 0.994357662935927 0.905057284039872 0.949707473487899 NA NA 1 1 NA NA -0.00564233706407347 -0.0949427159601279 NA 1 NA -0.0502925265121007 NA FALSE NA 0.182 0.119 . intron_variant MODIFIER TM4SF20 HGNC 26230 ENST00000304568 1/3 1 NA ACA C 8.236e-06 2:227370991 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant 0.624703 0.3306 0.21035 0.053691 0.643155896992435 0.11411 2.18814392829867e-06 FALSE 4.06105e-06 ENSE00001134331_033 ENSE00001134331 033 2 228235584 228235753 - 47 66 57 C G 228235710 5134 44 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATGAACAGGAAAGATGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227370993 227370994 227370994 upstr_intron -14 -0.228070175438596 TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTCATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 15 189 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.003 -1.182 . intron_variant MODIFIER TM4SF20 HGNC 26230 ENST00000304568 1/3 1 NA TCA C 8.236e-06 2:227370994 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant 1.13019 0.35057 0.1435 0.053691 0.68937380207916 0.114025 2.18814392829867e-06 FALSE 4.06124e-06 ENSE00001134331_035 ENSE00001134331 035 2 228235584 228235753 - 47 66 57 A C 228235721 5136 33 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGCTGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227371004 227371005 227371005 upstr_intron -25 -0.421052631578947 TTTTTTCTTCTGATGAGAAGTTATAATACTCAGCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 590 66 1 0.8 0.9 NA NA 1 1 NA NA 0 -0.2 NA 1 NA -0.1 NA FALSE NA 0.059 1.019 . intron_variant MODIFIER TM4SF20 HGNC 26230 ENST00000304568 1/3 1 NA GAT A 8.236e-06 2:227371005 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant 1.192368 0.33375 0.40418 0.053691 0.769963633571209 0.102919 2.18814392829867e-06 FALSE 4.06161e-06 ENSE00001134331_036 ENSE00001134331 036 2 228235584 228235753 - 47 66 57 T G 228235722 5137 32 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGAGGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227371005 227371006 227371006 upstr_intron -26 -0.43859649122807 TTTTTTCTTCTGATGAGAAGTTATAATACTCCTCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 32 90 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.037 0.202 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:227371006 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant 1.546884 0.30726 0.18699 0.053691 0.756850250266817 0.102919 2.18814392829867e-06 FALSE 8.12381e-06 ENSE00001134331_037 ENSE00001134331 037 2 228235584 228235753 - 47 66 57 T C 228235722 5138 32 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGACGAGTATTATAACTTCTCATCAGAAGAAAAAA 227370867 227371037 227371005 227371006 227371006 upstr_intron -26 -0.43859649122807 TTTTTTCTTCTGATGAGAAGTTATAATACTCGTCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 810 125 0.988449017509302 1 0.994224508754651 NA NA 1 1 NA NA -0.0115509824906984 0 NA 1 NA -0.00577549124534921 NA FALSE NA 0.037 0.202 NA NA NA TM4SF20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM4SF20 NA NA NA ENSG00000168955 ENSE00001134331 intron_variant 1.342279 0.31389 0.2123 0.053691 0.741113371015258 0.102919 2.18814392829867e-06 FALSE 8.12381e-06 ENSE00001134331_038 ENSE00001134331 038 2 228235584 228235753 - 47 66 57 C T 228235742 5139 12 TAACTGTTCATGCACTTCTGCTTCCACGCCGACTGCTTCATACTTACTCCAGTTCTGTTGTTGCAGCACGCTCTTTTTCTTGCTGTCAAGGACATTGTTGTTGCTGGAATGGCCTGGAAATGACATCAACAGGAAAGATGAGTATTATAACTTCTCATTAGAAGAAAAAA 227370867 227371037 227371025 227371026 227371026 upstr_intron -46 -0.789473684210526 TTTTTTCTTCTAATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA TTTTTTCTTCTGATGAGAAGTTATAATACTCATCTTTCCTGTTGATGTCATTTCCAGGCCATTCCAGCAACAACAATGTCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAGTAAGTATGAAGCAGTCGGCGTGGAAGCAGAAGTGCATGAACAGTTA mutant NA NA NA NA NA 239 295 0.997388156283552 0.990591078172021 0.993989617227786 NA NA 1 1 NA NA -0.00261184371644818 -0.00940892182797948 NA 1 NA -0.00601038277221383 NA FALSE NA 0.007 2.01 . intron_variant MODIFIER TM4SF20 HGNC 26230 ENST00000304568 1/3 1 NA TCA C 8.236e-06 2:227371026 TM4SF20 HGNC Symbol protein_coding 19839 ENSG00000168955 ENSE00001134331 intron_variant 0.499119 0.48595 0.34244 0.053691 0.684428611260829 0.593398 2.18814392829867e-06 FALSE 4.07701e-06 ENSE00001134775_000 ENSE00001134775 000 5 41762178 41762347 - 35 90 45 NA NA NA NA NA CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 NA NA NA NA NA NA CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG natural 30 53 0.998763294782285 0.991068138127551 0.994915716454918 3320 5791 0.94916703942502 0.90531185027727 0.927239444851145 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 0 0 0 0 0.994915716454918 0.927239444851145 0 0 0 FALSE FALSE NA NA NA NA NA OXCT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OXCT1 NA NA NA ENSG00000083720 ENSE00003538865 NA NA NA NA NA NA NA 0.267382736691876 FALSE NA ENSE00001134775_001 ENSE00001134775 001 5 41762178 41762347 - 35 90 45 A G 41762201 615 147 CAAAAGCAGTATTTGGGGAGCACGGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762098 41762099 41762099 downstr_intron 12 1.35294117647059 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACCGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 734 540 1 0.997559536883176 0.998779768441588 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.0508329605749795 0.0922476866059063 0.994915716454918 0.927239444851145 NA 0.0715403235904429 NA FALSE NA 0.001 1.287 . intron_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 2/4 1 NA CAG A,G 8.236e-06 5:41762099 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 intron_variant -0.20507 0.17431 0.0046 0.295142 0.381852422953733 0.0931705 0.267382736691876 FALSE 4.06375e-06 ENSE00001134775_002 ENSE00001134775 002 5 41762178 41762347 - 35 90 45 C A 41762205 616 143 CAAAAGCAGTATTTGGGGAGCACAGTAAATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762102 41762103 41762103 downstr_intron 8 1.23529411764706 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATTTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 1785 1474 0.964220926353478 0.99519370039029 0.979707313371884 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.0150538869284572 0.0898818501130197 0.994915716454918 0.927239444851145 NA 0.0524678685207385 NA FALSE NA 0 -0.936 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW OXCT1 HGNC 8527 ENST00000508557 2/4 1 NA ACA C,A 8.236e-06 5:41762103 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 splice_region_variant 0.047772 0.17326 0.03084 0.295142 0.563295107146977 0.0923185 0.267382736691876 FALSE NA ENSE00001134775_003 ENSE00001134775 003 5 41762178 41762347 - 35 90 45 T C 41762209 617 139 CAAAAGCAGTATTTGGGGAGCACAGTACATGCTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762106 41762107 41762107 downstr_intron 4 1.11764705882353 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAGCATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 183 171 0.990155214431889 0.983590051217036 0.986872632824463 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.0409881750068686 0.0782782009397665 0.994915716454918 0.927239444851145 NA 0.0596331879733175 NA FALSE NA 0.826 0.896 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW OXCT1 HGNC 8527 ENST00000508557 2/4 1 NA GTT T,C 8.236e-06 5:41762107 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 splice_region_variant -0.060299 0.83774 0.30724 0.295142 0.495772826562735 0.245875 0.267382736691876 FALSE 4.06319e-06 ENSE00001134775_004 ENSE00001134775 004 5 41762178 41762347 - 35 90 45 C G 41762240 618 108 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACGACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762137 41762138 41762138 exon -28 0.7 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTCGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 728 467 0.996226627690947 1 0.998113313845474 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.0470595882659266 0.09468814972273 0.994915716454918 0.927239444851145 NA 0.0708738689943283 NA FALSE NA 0.998 0.715 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 2/5 1 NA CCA C,G 8.236e-06 5:41762138 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 synonymous_variant 1.413278 0.97114 0.84471 0.706298 0.702325108544915 0 0.267382736691876 FALSE 4.06283e-06 ENSE00001134775_005 ENSE00001134775 005 5 41762178 41762347 - 35 90 45 T C 41762251 619 97 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTCCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762148 41762149 41762149 exon -39 0.577777777777778 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGGAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 1689 971 0.929475187577332 0.990729287451813 0.960102237514572 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA -0.0196918518476884 0.085417437174543 0.994915716454918 0.927239444851145 NA 0.0328627926634273 NA FALSE NA 1 3.265 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 2/5 1 NA TTC T,C 8.236e-06 5:41762149 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 missense_variant 2.180271 0.96682 0.69001 0.706298 0.994989688980862 0 0.267382736691876 FALSE 4.06263e-06 ENSE00001134775_006 ENSE00001134775 006 5 41762178 41762347 - 35 90 45 C T 41762252 620 96 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTTGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762149 41762150 41762150 exon -40 0.566666666666667 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCAAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 1737 335 0.996843510189422 0.970114380621754 0.983478945405588 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.047676470764402 0.0648025303444841 0.994915716454918 0.927239444851145 NA 0.056239500554443 NA FALSE NA 0.98 0.52 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 2/5 1 NA TCG G,T 8.236e-06 5:41762150 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 synonymous_variant 2.412222 0.94653 0.49335 0.706298 0.732426729976234 0 0.267382736691876 FALSE 8.12605e-06 ENSE00001134775_007 ENSE00001134775 007 5 41762178 41762347 - 35 90 45 G A 41762253 621 95 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCACACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762150 41762151 41762151 exon -41 0.555555555555556 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGTGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 1541 1997 0.99925349936428 0.993425171018475 0.996339335191377 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.0500864599392592 0.0881133207412047 0.994915716454918 0.927239444851145 NA 0.069099890340232 NA FALSE NA 1 5.914 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 2/5 1 NA CGC G,A 4.118e-05 5:41762151 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 missense_variant 3.746044 0.97777 0.93977 0.706298 0.965828526582285 0 0.267382736691876 FALSE 3.6569e-05 ENSE00001134775_009 ENSE00001134775 009 5 41762178 41762347 - 35 90 45 C G 41762263 623 85 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACAGTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762160 41762161 41762161 exon 40 0.444444444444444 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTACTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 474 1425 1 0.997000563498684 0.998500281749342 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.0508329605749795 0.0916887132214145 0.994915716454918 0.927239444851145 NA 0.071260836898197 NA FALSE NA 1 7.063 rs141321563 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 2/5 rs141321563 1 NA G:0.0002 G:0 ACT C,G 8.236e-06 5:41762161 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 missense_variant 6.90647 0.99103 0.97652 0.706298 0.997802557653447 0 0.267382736691876 FALSE 4.06283e-06 ENSE00001134775_010 ENSE00001134775 010 5 41762178 41762347 - 35 90 45 T G 41762264 624 84 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACGAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762161 41762162 41762162 exon 39 0.433333333333333 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTCGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 1103 486 0.933287931637383 1 0.966643965818691 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA -0.0158791077876376 0.09468814972273 0.994915716454918 0.927239444851145 NA 0.0394045209675462 NA FALSE NA 0.294 -0.133 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 2/5 1 NA CTA T,G 6.589e-05 5:41762162 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 missense_variant 5.369813 0.96259 0.59353 0.706298 0.998389896779149 0 0.267382736691876 FALSE 3.65646e-05 ENSE00001134775_012 ENSE00001134775 012 5 41762178 41762347 - 35 90 45 C T 41762300 626 48 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTTCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762197 41762198 41762198 exon 3 0.0333333333333333 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGAAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 1545 2037 0.922124447041113 0.991235723167735 0.956680085104424 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA -0.0270425923839073 0.0859238728904654 0.994915716454918 0.927239444851145 NA 0.0294406402532791 NA FALSE NA 0.948 0.063 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW OXCT1 HGNC 8527 ENST00000508557 2/5 1 NA TCC C,T 8.236e-06 5:41762198 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 splice_region_variant 1.565056 0.94401 0.48006 0.706298 0.686944586375831 0 0.267382736691876 FALSE 4.06722e-06 ENSE00001134775_013 ENSE00001134775 013 5 41762178 41762347 - 35 90 45 A C 41762307 627 41 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCCAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 41762204 41762205 41762205 upstr_intron -5 -0.0888888888888889 CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTGGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 219 689 0.995205296711413 1 0.997602648355707 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.0460382572863928 0.09468814972273 0.994915716454918 0.927239444851145 NA 0.0703632035045614 NA FALSE NA 0.97 3.338 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW OXCT1 HGNC 8527 ENST00000508557 1/4 1 NA CAA A,C 8.236e-06 5:41762205 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 splice_region_variant 1.29132 0.95848 0.84991 0.062308 0.866116984698905 0.462842 0.267382736691876 FALSE 4.0708e-06 ENSE00001134775_014 ENSE00001134775 014 5 41762178 41762347 - 35 90 45 T C 41762328 628 20 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCCGTATCTTTCACTTCTTTTG 41762075 41762245 41762225 41762226 41762226 upstr_intron -26 -0.555555555555556 CAAAAGAAGTGAAAGATACGGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 744 1432 0.886136950219146 0.992631375347879 0.939384162783512 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA -0.0630300892058747 0.0873195250706092 0.994915716454918 0.927239444851145 NA 0.0121447179323673 NA FALSE NA 0 -0.2 . intron_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 1/4 1 NA CTG T,C 5.765e-05 5:41762226 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 intron_variant 0.068414 0.14608 0.05914 0.062308 0.704067203431699 0.107033 0.267382736691876 FALSE 3.6682e-05 ENSE00001134775_015 ENSE00001134775 015 5 41762178 41762347 - 35 90 45 C T 41762337 629 11 CAAAAGCAGTATTTGGGGAGCACAGTACATGTTACCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCCTGCAAAACAAAAAATAAATAGCTCTGTATCTTTTACTTCTTTTG 41762075 41762245 41762234 41762235 41762235 upstr_intron -35 -0.755555555555556 CAAAAGAAGTAAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG mutant NA NA NA NA NA 71 1447 1 0.95457240960464 0.97728620480232 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 NA NA 0.0508329605749795 0.0492605593273698 0.994915716454918 0.927239444851145 NA 0.0500467599511747 NA FALSE NA 0 -0.125 . intron_variant&non_coding_transcript_variant MODIFIER OXCT1 HGNC 8527 ENST00000508557 1/4 1 NA TCA C,T 8.236e-06 5:41762235 OXCT1 HGNC Symbol protein_coding 140454 ENSG00000083720 ENSE00003538865 intron_variant 0.939872 0.18008 0.02685 0.062308 0.659256791923327 0.107033 0.267382736691876 FALSE 4.0784e-06 ENSE00001134775_BRK ENSE00001134775 BRK 5 41762178 41762347 - 35 90 45 A,G; T,T NA NA NA CAAAAGCAGTATTTGGGGAGCACAGTACATGTTGGCTTTGCAGAATGCTCCATGGTGACCACCACTTTGGTTTTCGCACTGGACACTAAATCCATAGCACCTCCCATTCCTTTCACCATCTTCCCAAGCAAAACAAAAAATAAATAGCTCTGTATCTTTCACTTCTTTTG 41762075 41762245 NA NA NA NA NA NA CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCTTGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGCCAACATGTACTGTGCTCCCCAAATACTGCTTTTG CAAAAGAAGTGAAAGATACAGAGCTATTTATTTTTTGTTTTGCAGGGGAAGATGGTGAAAGGAATGGGAGGTGCTATGGATTTAGTGTCCAGTGCGAAAACCAAAGTGGTGGTCACCATGGAGCATTCTGCAAAGGTAACATGTACTGTGCTCCCCAAATACTGCTTTTG control 407 37 0 0.0537430846508119 0.0268715423254059 333 3594 0 0.00349193334090544 0.00174596667045272 0.998763294782285 0.991068138127551 0.94916703942502 0.90531185027727 -0.998763294782285 -0.937325053476739 -0.94916703942502 -0.901819916936365 0.994915716454918 0.927239444851145 -0.968044174129512 -0.925493478180692 0.0425506959488196 TRUE TRUE NA NA NA NA NA OXCT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OXCT1 NA NA NA ENSG00000083720 ENSE00003538865 NA NA NA NA NA NA NA 0.267382736691876 FALSE NA ENSE00001135553_000 ENSE00001135553 000 5 1400986 1401155 - 44 72 54 NA NA NA NA NA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA 1400870 1401040 NA NA NA NA NA NA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA natural NA NA NA NA NA 576 538 0.995815303665096 0.958087602644116 0.976951453154606 NA NA 0.995815303665096 0.958087602644116 NA NA 0 0 NA 0.976951453154606 NA 0 NA FALSE NA NA NA NA NA NA SLC6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC6A3 NA NA NA ENSG00000142319 ENSE00001135553 NA NA NA NA NA NA NA 0.99703690247797 TRUE NA ENSE00001135553_002 ENSE00001135553 002 5 1400986 1401155 - 44 72 54 G A 1401015 137 141 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCTCTGCTGGGCCTCTCTCGGGGGAATTCAGA 1400870 1401040 1400899 1400900 1400900 downstr_intron 15 1.34883720930233 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCTCTGCTGGGCCTCTCTCGGGGGAATTCAGA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA mutant NA NA NA NA NA 198 136 1 1 1 NA NA 0.995815303665096 0.958087602644116 NA NA 0.00418469633490381 0.0419123973558844 NA 0.976951453154606 NA 0.0230485468453941 NA FALSE NA 0.001 0.768 . intron_variant MODIFIER SLC6A3 HGNC 11049 ENST00000512002 2/2 rs372099852 1 NA A:0 A:0.0001 GGG G,A 8.319e-06 5:1400900 SLC6A3 HGNC Symbol protein_coding 52640 ENSG00000142319 ENSE00001135553 intron_variant 0.004225 0.16804 0.02643 0 0.514187920114268 0.0518893 0.99703690247797 TRUE NA ENSE00001135553_006 ENSE00001135553 006 5 1400986 1401155 - 44 72 54 G A 1401022 141 134 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTTGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA 1400870 1401040 1400906 1400907 1400907 downstr_intron 8 1.18604651162791 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTTGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA mutant NA NA NA NA NA 11 136 1 1 1 NA NA 0.995815303665096 0.958087602644116 NA NA 0.00418469633490381 0.0419123973558844 NA 0.976951453154606 NA 0.0230485468453941 NA FALSE NA 0 -1.408 . splice_region_variant&intron_variant LOW SLC6A3 HGNC 11049 ENST00000512002 2/2 rs533644928 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 CGA G,A 4.149e-05 5:1400907 SLC6A3 HGNC Symbol protein_coding 52640 ENSG00000142319 ENSE00001135553 splice_region_variant 0.164931 0.15389 0.00342 0 0.301804984768667 0.0598032 0.99703690247797 TRUE 7.87402e-05 ENSE00001135553_009 ENSE00001135553 009 5 1400986 1401155 - 44 72 54 C T 1401067 144 89 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCATGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA 1400870 1401040 1400951 1400952 1400952 exon 35 0.486111111111111 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCATGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA mutant NA NA NA NA NA 291 33 1 1 1 NA NA 0.995815303665096 0.958087602644116 NA NA 0.00418469633490381 0.0419123973558844 NA 0.976951453154606 NA 0.0230485468453941 NA FALSE NA 0.01 0.399 . missense_variant MODERATE SLC6A3 HGNC 11049 ENST00000512002 2/3 1 tolerated_low_confidence(0.96) possibly_damaging(0.715) NA ACG C,T 3.304e-05 5:1400952 SLC6A3 HGNC Symbol protein_coding 52640 ENSG00000142319 ENSE00001135553 missense_variant -0.274879 0.15163 0.00886 0.514905 0.529367092703101 0 0.99703690247797 TRUE NA ENSE00001135553_011 ENSE00001135553 011 5 1400986 1401155 - 44 72 54 T C 1401086 146 70 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCGTTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA 1400870 1401040 1400970 1400971 1400971 exon 16 0.222222222222222 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCGTTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA mutant NA NA NA NA NA 306 156 1 1 1 NA NA 0.995815303665096 0.958087602644116 NA NA 0.00418469633490381 0.0419123973558844 NA 0.976951453154606 NA 0.0230485468453941 NA FALSE NA 1 4.442 . missense_variant MODERATE SLC6A3 HGNC 11049 ENST00000512002 2/3 1 deleterious_low_confidence(0) benign(0.068) NA ATG T,C 2.478e-05 5:1400971 SLC6A3 HGNC Symbol protein_coding 52640 ENSG00000142319 ENSE00001135553 missense_variant 1.154774 0.97139 0.73796 0.514905 0.98438781060625 0 0.99703690247797 TRUE NA ENSE00001135553_012 ENSE00001135553 012 5 1400986 1401155 - 44 72 54 G A 1401090 147 66 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTATGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA 1400870 1401040 1400974 1400975 1400975 exon 12 0.166666666666667 TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTATGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA mutant NA NA NA NA NA 418 204 0.997713324432512 0.997344741974725 0.997529033203619 NA NA 0.995815303665096 0.958087602644116 NA NA 0.00189802076741596 0.0392571393306094 NA 0.976951453154606 NA 0.0205775800490127 NA FALSE NA 0.251 -1.661 rs141485913 synonymous_variant LOW SLC6A3 HGNC 11049 ENST00000512002 2/3 rs141485913&COSM1061767 1 NA A:0.0005 A:0 CGT G,A 6.609e-05 5:1400975 SLC6A3 HGNC Symbol protein_coding 52640 ENSG00000142319 ENSE00001135553 synonymous_variant 0.123308 0.91671 0.03072 0.514905 0.434032433309322 0 0.99703690247797 TRUE NA ENSE00001135553_018 ENSE00001135553 018 5 1400986 1401155 - 44 72 54 G A 1401140 153 16 TGCTGGCAGTGGGTATTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA 1400870 1401040 1401024 1401025 1401025 upstr_intron -39 -0.703703703703704 TGCTGGCAGTGGGTATTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA mutant NA NA NA NA NA 61 84 1 1 1 NA NA 0.995815303665096 0.958087602644116 NA NA 0.00418469633490381 0.0419123973558844 NA 0.976951453154606 NA 0.0230485468453941 NA FALSE NA 0.001 0.829 NA NA NA SLC6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:1401025 SLC6A3 HGNC Symbol protein_coding 52640 ENSG00000142319 ENSE00001135553 intron_variant 0.024855 0.1235 0.00575 0 0.717665672331586 0.0528102 0.99703690247797 TRUE 0.000141968 ENSE00001135553_BRK ENSE00001135553 BRK 5 1400986 1401155 - 44 72 54 A,G; T,T NA NA NA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCTTAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGCCGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA 1400870 1401040 NA NA NA NA NA NA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCTTAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGCCGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA TGCTGGCAGTGGGTACTGGTCTGCACTGACCCCTGCACTCTCTTTCTCTTTCAGAAACTGGCCTACGCCATTGCACCCGAGAAGGACCGTGAGCTGGTGGACAGAGGGGAGGTGCGCCAGTTCACGGTGAGGTCGAGGTCCCTGCTGGGCCTCTCTCGGGGGAATTCAGA control NA NA NA NA NA 1038 63 0 0 0 NA NA 0.995815303665096 0.958087602644116 NA NA -0.995815303665096 -0.958087602644116 NA 0.976951453154606 NA -0.976951453154606 NA TRUE NA NA NA NA NA NA SLC6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC6A3 NA NA NA ENSG00000142319 ENSE00001135553 NA NA NA NA NA NA NA 0.99703690247797 TRUE NA ENSE00001135765_000 ENSE00001135765 000 19 10073450 10073619 - 45 69 56 NA NA NA NA NA CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 NA NA NA NA NA NA AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG natural NA NA NA NA NA 171 963 0.988115982300077 0.993397327301731 0.990756654800904 NA NA 0.988115982300077 0.993397327301731 NA NA 0 0 NA 0.990756654800904 NA 0 NA FALSE NA NA NA NA NA NA COL5A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA ENSG00000080573 ENSE00001135765 NA NA NA NA NA NA NA 7.11903366992312e-07 FALSE NA ENSE00001135765_001 ENSE00001135765 001 19 10073450 10073619 - 45 69 56 T G 10073460 771 160 CCATCAATTTGCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962783 9962784 9962784 downstr_intron 35 1.79545454545455 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGCAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 1613 222 0.964562769438441 1 0.982281384719221 NA NA 0.988115982300077 0.993397327301731 NA NA -0.0235532128616356 0.00660267269826909 NA 0.990756654800904 NA -0.00847527008168325 NA FALSE NA 0 -0.79 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA TTC T,G 8.249e-06 19:9962784 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant 0.613545 0.14327 0.01379 0.074388 0.640549022465009 0.0631609 7.11903366992312e-07 FALSE 4.66505e-06 ENSE00001135765_002 ENSE00001135765 002 19 10073450 10073619 - 45 69 56 G A 10073464 772 156 CCATCAATTTTCATATCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962787 9962788 9962788 downstr_intron 31 1.70454545454545 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGATATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 581 1003 0.995550499532739 0.999646468394498 0.997598483963618 NA NA 0.988115982300077 0.993397327301731 NA NA 0.00743451723266186 0.0062491410927672 NA 0.990756654800904 NA 0.00684182916271453 NA FALSE NA 0 -0.815 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA TGT G,A 8.247e-06 19:9962788 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant 0.472623 0.07757 0.00306 0.074388 0.720747861142991 0.0631609 7.11903366992312e-07 FALSE NA ENSE00001135765_003 ENSE00001135765 003 19 10073450 10073619 - 45 69 56 T C 10073469 773 151 CCATCAATTTTCATGTCACCCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962792 9962793 9962793 downstr_intron 26 1.59090909090909 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGGGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 1302 733 0.997977545883398 0.998268046746693 0.998122796315046 NA NA 0.988115982300077 0.993397327301731 NA NA 0.00986156358332102 0.00487071944496242 NA 0.990756654800904 NA 0.00736614151414172 NA FALSE NA 0 0.239 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA CTC T,C 8.244e-06 19:9962793 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant 0.366906 0.10477 0.00259 0.074388 0.566624864973751 0.0481816 7.11903366992312e-07 FALSE NA ENSE00001135765_006 ENSE00001135765 006 19 10073450 10073619 - 45 69 56 G A 10073479 776 141 CCATCAATTTTCATGTCACTCCCCATCTCAGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962802 9962803 9962803 downstr_intron 16 1.36363636363636 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCTGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 424 3058 0.98919062603287 0.992775761101299 0.990983193567085 NA NA 0.988115982300077 0.993397327301731 NA NA 0.00107464373279331 -0.000621566200431745 NA 0.990756654800904 NA 0.000226538766180784 NA FALSE NA 0 -0.018 rs148762424 downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 rs148762424 1 A:0.0008 A:0.0008 A:0 NA A:0 A:0.003 A:0 A:0.0011 A:0.0048 CGG G,A 0.003403 19:9962803 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant -0.116812 0.11107 0.01364 0.074388 0.678858758064257 0.0476193 7.11903366992312e-07 FALSE 0.00326898 ENSE00001135765_007 ENSE00001135765 007 19 10073450 10073619 - 45 69 56 C T 10073484 777 136 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTTGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962807 9962808 9962808 downstr_intron 11 1.25 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCAAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 768 809 0.991715949245141 1 0.99585797462257 NA NA 0.988115982300077 0.993397327301731 NA NA 0.00359996694506381 0.00660267269826909 NA 0.990756654800904 NA 0.00510131982166645 NA FALSE NA 0 -0.8 rs111952540 downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 rs111952540 1 NA TCG C,T 3.296e-05 19:9962808 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant 0.721467 0.11717 0.00685 0.074388 0.731427811407082 0.0624892 7.11903366992312e-07 FALSE 2.96567e-05 ENSE00001135765_009 ENSE00001135765 009 19 10073450 10073619 - 45 69 56 C T 10073505 779 115 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTTGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962828 9962829 9962829 exon -11 0.855072463768116 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCAAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 420 921 0.999213477842324 0.983975425151407 0.991594451496866 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0110974955422471 -0.00942190215032357 NA 0.990756654800904 NA 0.00083779669596179 NA FALSE NA 0.001 2.135 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA TCG C,T 8.238e-06 19:9962829 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 missense_variant 4.555442 0.97202 0.46577 0.643511 0.996680108747725 0 7.11903366992312e-07 FALSE NA ENSE00001135765_010 ENSE00001135765 010 19 10073450 10073619 - 45 69 56 C T 10073508 780 112 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGATGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962831 9962832 9962832 exon -14 0.811594202898551 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCATCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 481 1377 0.997033141613633 1 0.998516570806816 NA NA 0.988115982300077 0.993397327301731 NA NA 0.00891715931355597 0.00660267269826909 NA 0.990756654800904 NA 0.00775991600591253 NA FALSE NA 0.992 3.013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:9962832 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 missense_variant 5.847442 0.96336 0.55196 0.643511 0.996034692433331 0 7.11903366992312e-07 FALSE 4.97504e-05 ENSE00001135765_011 ENSE00001135765 011 19 10073450 10073619 - 45 69 56 C A 10073508 781 112 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGAAGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962831 9962832 9962832 exon -14 0.811594202898551 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCTTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 44 631 1 0.993535857179692 0.996767928589846 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0118840176999233 0.000138529877960702 NA 0.990756654800904 NA 0.00601127378894201 NA FALSE NA 0.992 3.013 NA NA NA COL5A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA ENSG00000080573 ENSE00001135765 missense_variant 5.877398 0.96808 0.90296 0.643511 0.99332921144423 0 7.11903366992312e-07 FALSE 4.14587e-06 ENSE00001135765_012 ENSE00001135765 012 19 10073450 10073619 - 45 69 56 G A 10073509 782 111 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACAGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962832 9962833 9962833 exon -15 0.797101449275362 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCTGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 732 408 1 0.871169108389116 0.935584554194558 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0118840176999233 -0.122228218912615 NA 0.990756654800904 NA -0.055172100606346 NA FALSE NA 1 3.622 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 rs373180563 1 NA A:0 A:0.0001 CGG G,A 3.295e-05 19:9962833 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 missense_variant 6.001846 0.97918 0.89002 0.643511 0.994332122430705 0 7.11903366992312e-07 FALSE 2.48845e-05 ENSE00001135765_013 ENSE00001135765 013 19 10073450 10073619 - 45 69 56 A G 10073511 783 109 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGGATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962834 9962835 9962835 exon -17 0.768115942028985 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATCCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 266 824 1 0.981021965804372 0.990510982902186 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0118840176999233 -0.0123753614973588 NA 0.990756654800904 NA -0.00024567189871777 NA FALSE NA 1 1.818 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA GAA A,G 8.237e-06 19:9962835 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 missense_variant 4.850184 0.96985 0.91517 0.643511 0.99440038252276 0 7.11903366992312e-07 FALSE NA ENSE00001135765_014 ENSE00001135765 014 19 10073450 10073619 - 45 69 56 T A 10073513 784 107 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAAAGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962836 9962837 9962837 exon -19 0.739130434782609 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACTTTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 486 1822 1 0.995089681129399 0.9975448405647 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0118840176999233 0.00169235382766841 NA 0.990756654800904 NA 0.00678818576379586 NA FALSE NA 0.009 -0.346 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:9962837 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 synonymous_variant 1.783027 0.95634 0.49667 0.643511 0.790363129078662 0 7.11903366992312e-07 FALSE 4.55117e-05 ENSE00001135765_015 ENSE00001135765 015 19 10073450 10073619 - 45 69 56 T C 10073513 785 107 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAACGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962836 9962837 9962837 exon -19 0.739130434782609 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACGTTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 1805 250 0.99844268022205 0.998288931300906 0.998365805761478 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0103266979219733 0.00489160399917477 NA 0.990756654800904 NA 0.00760915096057402 NA FALSE NA 0.009 -0.346 NA NA NA COL5A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA ENSG00000080573 ENSE00001135765 synonymous_variant 0.513522 0.95663 0.43503 0.643511 0.799411690765162 0 7.11903366992312e-07 FALSE 8.27486e-06 ENSE00001135765_017 ENSE00001135765 017 19 10073450 10073619 - 45 69 56 G A 10073533 787 87 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGACTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962856 9962857 9962857 exon 31 0.449275362318841 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGTCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 658 828 0.955832102834183 0.998743209888824 0.977287656361503 NA NA 0.988115982300077 0.993397327301731 NA NA -0.0322838794658941 0.00534588258709323 NA 0.990756654800904 NA -0.0134689984394004 NA FALSE NA 1 9.366 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 rs547819367 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 GGC G,A 0.0006425 19:9962857 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 missense_variant 4.456752 0.98917 0.98932 0.653281 0.996085870807155 0 7.11903366992312e-07 FALSE 0.000578895 ENSE00001135765_018 ENSE00001135765 018 19 10073450 10073619 - 45 69 56 A G 10073556 788 64 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCGATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962879 9962880 9962880 exon 8 0.115942028985507 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATCGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 415 1111 0.998029570075565 0.991103328139749 0.994566449107657 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0099135877754879 -0.00229399916198192 NA 0.990756654800904 NA 0.00380979430675299 NA FALSE NA 0.974 8.867 rs148658694 downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 rs148658694 1 NA G:0 G:0.0002 CAA A,G 1.648e-05 19:9962880 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 missense_variant 2.889547 0.98651 0.98898 0.653281 0.986221733885538 0 7.11903366992312e-07 FALSE 1.67775e-05 ENSE00001135765_019 ENSE00001135765 019 19 10073450 10073619 - 45 69 56 A G 10073557 789 63 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAGTTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962880 9962881 9962881 exon 7 0.101449275362319 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAACTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 478 602 0.807198334944436 0.992779216555202 0.899988775749819 NA NA 0.988115982300077 0.993397327301731 NA NA -0.180917647355641 -0.000618110746528955 NA 0.990756654800904 NA -0.0907678790510848 NA FALSE NA 0.01 0.317 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA AAT A,G 1.648e-05 19:9962881 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 synonymous_variant 0.261999 0.92999 0.05845 0.653281 0.632972392452885 0 7.11903366992312e-07 FALSE NA ENSE00001135765_020 ENSE00001135765 020 19 10073450 10073619 - 45 69 56 C G 10073563 790 57 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCAGCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962886 9962887 9962887 exon 1 0.0144927536231884 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGCTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 1816 369 0.946867356520047 0.992642962965598 0.969755159742822 NA NA 0.988115982300077 0.993397327301731 NA NA -0.0412486257800301 -0.000754364336132629 NA 0.990756654800904 NA -0.0210014950580814 NA FALSE NA 0.632 1.931 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA ACC C,G 5.768e-05 19:9962887 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 missense_variant 4.084583 0.98945 0.95774 0.653281 0.989012485710491 0 7.11903366992312e-07 FALSE 0.000114245 ENSE00001135765_021 ENSE00001135765 021 19 10073450 10073619 - 45 69 56 A G 10073569 791 51 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAGGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962892 9962893 9962893 upstr_intron -6 -0.0892857142857143 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCCTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 607 138 0.992854314658875 1 0.996427157329437 NA NA 0.988115982300077 0.993397327301731 NA NA 0.00473833235879817 0.00660267269826909 NA 0.990756654800904 NA 0.00567050252853363 NA FALSE NA 0 1.196 rs113051582 downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 rs113051582 1 G:0.0162 G:0.0582 G:0.0058 NA G:0 G:0 G:0 G:0.0415 G:0.0001 AAG G,G 0.00342 19:9962893 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 splice_region_variant 0.160389 0.11057 0.01265 0.074388 0.602583762389128 0.284863 7.11903366992312e-07 FALSE 0.00280445 ENSE00001135765_022 ENSE00001135765 022 19 10073450 10073619 - 45 69 56 G A 10073572 792 48 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAAAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962895 9962896 9962896 upstr_intron -9 -0.142857142857143 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTTTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 677 1794 1 0.998501099167136 0.999250549583568 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0118840176999233 0.00510377186540478 NA 0.990756654800904 NA 0.00849389478266405 NA FALSE NA 0 0.045 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA AGA G,A 8.242e-06 19:9962896 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant 0.572484 0.14005 0.00499 0.074388 0.572192604258342 0.11175 7.11903366992312e-07 FALSE NA ENSE00001135765_023 ENSE00001135765 023 19 10073450 10073619 - 45 69 56 T A 10073584 793 36 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGACACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962907 9962908 9962908 upstr_intron -21 -0.357142857142857 AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGTCCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 1501 1098 0.999312543552857 0.998212509377284 0.99876252646507 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0111965612527805 0.00481518207555287 NA 0.990756654800904 NA 0.00800587166416666 NA FALSE NA 0.03 0.706 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA GTC T,A 8.246e-06 19:9962908 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant 0.471615 0.28986 0.08518 0.074388 0.576979760217064 0.09015 7.11903366992312e-07 FALSE NA ENSE00001135765_024 ENSE00001135765 024 19 10073450 10073619 - 45 69 56 G A 10073595 794 25 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTAACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962918 9962919 9962919 upstr_intron -32 -0.553571428571429 AGATCTAGATGGCACCAAGGGCGTTAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 1061 5389 0.999182605665808 0.999730130663681 0.999456368164745 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0110666233657313 0.00633280336195019 NA 0.990756654800904 NA 0.00869971336384073 NA FALSE NA 0.007 1.037 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 rs376649429 1 NA A:0 A:0.0001 TGA G,A 8.258e-06 19:9962919 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant 0.011228 0.16778 0.02642 0.074388 0.49781482185883 0.09015 7.11903366992312e-07 FALSE NA ENSE00001135765_025 ENSE00001135765 025 19 10073450 10073619 - 45 69 56 C T 10073597 795 23 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGATGCCCTTGGTGCCATCTAGATCT 9962773 9962943 9962920 9962921 9962921 upstr_intron -34 -0.589285714285714 AGATCTAGATGGCACCAAGGGCATCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 1182 500 1 0.997761704362683 0.998880852181342 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0118840176999233 0.0043643770609525 NA 0.990756654800904 NA 0.0081241973804379 NA FALSE NA 0 -3.338 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 rs371142637 1 NA T:0 T:0.0005 ACG C,T 8.26e-05 19:9962921 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant -0.242981 0.1079 0.00239 0.074388 0.537717916686777 0.09015 7.11903366992312e-07 FALSE 6.62803e-05 ENSE00001135765_026 ENSE00001135765 026 19 10073450 10073619 - 45 69 56 C T 10073599 796 21 CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCACCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACCTGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGTCCTTGGTGCCATCTAGATCT 9962773 9962943 9962922 9962923 9962923 upstr_intron -36 -0.625 AGATCTAGATGGCACCAAGGACGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG mutant NA NA NA NA NA 795 1433 1 0.998630512537969 0.999315256268985 NA NA 0.988115982300077 0.993397327301731 NA NA 0.0118840176999233 0.00523318523623839 NA 0.990756654800904 NA 0.00855860146808085 NA FALSE NA 0 0.095 . downstream_gene_variant MODIFIER COL5A3 HGNC 14864 ENST00000461214 1 NA GCC C,T 8.263e-06 19:9962923 COL5A3 HGNC Symbol protein_coding 50910 ENSG00000080573 ENSE00001135765 intron_variant 0.14368 0.17143 0.02752 0.074388 0.519278598242892 0.09015 7.11903366992312e-07 FALSE 1.44256e-05 ENSE00001135765_BRK ENSE00001135765 BRK 19 10073450 10073619 - 45 69 56 A,G; T,T NA NA NA CCATCAATTTTCATGTCACTCCCCATCTCGGCCTCGGTGACTCGGCTTCTTCCCTCGACGGAATGTGCTATACCAGCCTCCAGGCTTTTCCTTGGACCAGGAGGCCAATTTCACAAGGAAGAGAAAAGGGAGGGTCACTGTAGCTGACGCCCTTGGTGCCATCTAGATCT 9962773 9962943 NA NA NA NA NA NA AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCTTGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGCCGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG AGATCTAGATGGCACCAAGGGCGTCAGCTACAGTGACCCTCCCTTTTCTCTTCCAGGTGAAATTGGCCTCCTGGTCCAAGGAAAAGCCTGGAGGCTGGTATAGCACATTCCGTCGAGGGAAGAAGGTGAGTCACCGAGGCCGAGATGGGGAGTGACATGAAAATTGATGG control 227 106 0.0399683751733452 0 0.0199841875866726 NA NA NA NA NA NA NA 0.988115982300077 0.993397327301731 NA NA NA NA NA 0.990756654800904 NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A3 NA NA NA ENSG00000080573 ENSE00001135765 NA NA NA NA NA NA NA 7.11903366992312e-07 FALSE NA ENSE00001136002_000 ENSE00001136002 000 5 155419 155588 + 41 99 30 NA NA NA NA NA ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 NA NA NA NA NA NA GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT natural 98 155 0.996507346470874 0.991459698322907 0.99398352239689 3086 1706 0.928898281450071 0.979725128762012 0.954311705106041 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 0 0 0 0 0.99398352239689 0.954311705106041 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHG4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG4B NA NA NA ENSG00000153404 ENSE00001136002 NA NA NA NA NA NA NA 7.81216708928923e-20 FALSE NA ENSE00001136002_001 ENSE00001136002 001 5 155419 155588 + 41 99 30 T C 155432 1 14 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTGTAAGAACACAGTC 155303 155473 155316 155317 155317 upstr_intron -28 -0.658536585365854 GACTGTGTTCTTACAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 31 2249 1 0.996546208716581 0.998273104358291 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.0168210799545694 0.99398352239689 0.954311705106041 NA 0.0439613992522492 NA FALSE NA 0 0.785 . intron_variant MODIFIER PLEKHG4B HGNC 29399 ENST00000502646 6/8 1 NA ATA .,C 8.236e-06 5:155317 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 intron_variant -0.130412 0.14198 0.02018 0.069865 0.452189883560564 0.0555664 7.81216708928923e-20 FALSE 4.06161e-06 ENSE00001136002_002 ENSE00001136002 002 5 155419 155588 + 41 99 30 C T 155436 2 18 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAAATTATAAGAACACAGTC 155303 155473 155320 155321 155321 upstr_intron -24 -0.560975609756098 GACTGTGTTCTTATAATTTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 32 441 0.984937444510802 0.99887019320939 0.991903818860096 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0560391630607312 0.0191450644473782 0.99398352239689 0.954311705106041 NA 0.0375921137540547 NA FALSE NA 0 0.885 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:155321 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 intron_variant 0.245661 0.24163 0.01053 0.069865 0.690710941728315 0.0555664 7.81216708928923e-20 FALSE NA ENSE00001136002_003 ENSE00001136002 003 5 155419 155588 + 41 99 30 C G 155436 3 18 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGACATTATAAGAACACAGTC 155303 155473 155320 155321 155321 upstr_intron -24 -0.560975609756098 GACTGTGTTCTTATAATGTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 177 313 1 1 1 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.020274871237988 0.99398352239689 0.954311705106041 NA 0.0456882948939585 NA FALSE NA 0 0.885 NA NA NA PLEKHG4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG4B NA NA NA ENSG00000153404 ENSE00001136002 intron_variant 0.154497 0.25865 0.1357 0.069865 0.503771519912519 0.0555664 7.81216708928923e-20 FALSE NA ENSE00001136002_004 ENSE00001136002 004 5 155419 155588 + 41 99 30 C T 155439 4 21 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAAGAGATTATAAGAACACAGTC 155303 155473 155323 155324 155324 upstr_intron -21 -0.48780487804878 GACTGTGTTCTTATAATCTCTTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 24 1632 1 0.948551875380531 0.974275937690266 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 -0.0311732533814806 0.99398352239689 0.954311705106041 NA 0.0199642325842243 NA FALSE NA 0 -0.603 rs150740857 intron_variant MODIFIER PLEKHG4B HGNC 29399 ENST00000502646 6/8 rs150740857 1 T:0.0028 T:0.0098 T:0.0014 NA T:0 T:0 T:0 T:0.01 T:0 CCT .,T 0.0009884 5:155324 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 intron_variant 0.157486 0.13136 0.01031 0.069865 0.668226243978628 0.0719658 7.81216708928923e-20 FALSE 0.000722919 ENSE00001136002_005 ENSE00001136002 005 5 155419 155588 + 41 99 30 C T 155441 5 23 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGAAGGAGATTATAAGAACACAGTC 155303 155473 155325 155326 155326 upstr_intron -19 -0.439024390243902 GACTGTGTTCTTATAATCTCCTTCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 391 943 0.99798288280404 0.997138115708711 0.997560499256376 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0690846013539693 0.0174129869466991 0.99398352239689 0.954311705106041 NA 0.0432487941503342 NA FALSE NA 0 -1.239 . intron_variant MODIFIER PLEKHG4B HGNC 29399 ENST00000502646 6/8 1 NA TCC .,T 1.647e-05 5:155326 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 intron_variant -0.714546 0.05738 0.00537 0.069865 0.473096534439197 0.0712365 7.81216708928923e-20 FALSE 1.62455e-05 ENSE00001136002_006 ENSE00001136002 006 5 155419 155588 + 41 99 30 C G 155445 6 27 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGACAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155329 155330 155330 upstr_intron -15 -0.341463414634146 GACTGTGTTCTTATAATCTCCTCCCTGTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 1021 356 1 0.999555492730238 0.999777746365119 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.0198303639682259 0.99398352239689 0.954311705106041 NA 0.0454660412590775 NA FALSE NA 0.029 0.542 . intron_variant MODIFIER PLEKHG4B HGNC 29399 ENST00000502646 6/8 rs374291219 1 NA G:0.0002 G:0 TCT .,G 1.647e-05 5:155330 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 intron_variant -0.047524 0.68104 0.08203 0.069865 0.441746339894101 0.0712365 7.81216708928923e-20 FALSE 8.1217e-06 ENSE00001136002_008 ENSE00001136002 008 5 155419 155588 + 41 99 30 C A 155454 8 36 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTTTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155338 155339 155339 upstr_intron -6 -0.121951219512195 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCAAAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 25 278 1 1 1 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.020274871237988 0.99398352239689 0.954311705106041 NA 0.0456882948939585 NA FALSE NA 0 -0.626 . splice_region_variant&intron_variant LOW PLEKHG4B HGNC 29399 ENST00000502646 6/8 1 NA ACA .,A 2.471e-05 5:155339 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 splice_region_variant 0.269853 0.13518 0.01591 0.069865 0.500827557768675 0.123439 7.81216708928923e-20 FALSE 1.21824e-05 ENSE00001136002_009 ENSE00001136002 009 5 155419 155588 + 41 99 30 G C 155461 9 43 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCGTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155345 155346 155346 exon 2 0.0202020202020202 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGACGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 284 1845 0.998834946798071 1 0.999417473399036 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0699366653480004 0.020274871237988 0.99398352239689 0.954311705106041 NA 0.0451057682929942 NA FALSE NA 1 1.861 NA NA NA PLEKHG4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:155346 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 missense_variant -0.415379 0.94662 0.28776 0.67177 0.517056198424426 0 7.81216708928923e-20 FALSE 8.12143e-06 ENSE00001136002_011 ENSE00001136002 011 5 155419 155588 + 41 99 30 G C 155466 11 48 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTGCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155350 155351 155351 exon 7 0.0707070707070707 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGCAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 456 630 0.994697664705827 0.918610113079128 0.956653888892477 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.065799383255756 -0.0611150156828839 0.99398352239689 0.954311705106041 NA 0.00234218378643603 NA FALSE NA 1 2.916 . missense_variant MODERATE PLEKHG4B HGNC 29399 ENST00000502646 7/9 1 deleterious(0.01) possibly_damaging(0.535) NA GGA .,C 1.647e-05 5:155351 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 missense_variant 3.811173 0.97247 0.73821 0.67177 0.993905032158346 0 7.81216708928923e-20 FALSE 8.12143e-06 ENSE00001136002_012 ENSE00001136002 012 5 155419 155588 + 41 99 30 T C 155472 12 54 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAGGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155356 155357 155357 exon 13 0.131313131313131 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACCTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 1614 661 0.973369364065626 0.99976066315016 0.986565013607893 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0444710826155553 0.0200355343881482 0.99398352239689 0.954311705106041 NA 0.0322533085018518 NA FALSE NA 0.898 3.647 . missense_variant MODERATE PLEKHG4B HGNC 29399 ENST00000502646 7/9 1 tolerated(0.25) probably_damaging(0.997) NA CTT .,C 8.236e-06 5:155357 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 missense_variant 2.163952 0.41023 0.47098 0.67177 0.976691958306742 0 7.81216708928923e-20 FALSE 4.06062e-06 ENSE00001136002_013 ENSE00001136002 013 5 155419 155588 + 41 99 30 C T 155474 13 56 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCAAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155358 155359 155359 exon 15 0.151515151515152 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTTGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 38 299 1 1 1 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.020274871237988 0.99398352239689 0.954311705106041 NA 0.0456882948939585 NA FALSE NA 0.122 0.214 . synonymous_variant LOW PLEKHG4B HGNC 29399 ENST00000502646 7/9 1 NA TCG .,T 2.471e-05 5:155359 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 synonymous_variant 1.212299 0.1236 0.00406 0.67177 0.544896177597101 0 7.81216708928923e-20 FALSE 1.62425e-05 ENSE00001136002_014 ENSE00001136002 014 5 155419 155588 + 41 99 30 G A 155475 14 57 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGTGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155359 155360 155360 exon 16 0.161616161616162 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCACTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 638 352 0.966836774037132 1 0.983418387018566 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0379384925870607 0.020274871237988 0.99398352239689 0.954311705106041 NA 0.0291066819125244 NA FALSE NA 0.002 -0.039 NA NA NA PLEKHG4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:155360 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 missense_variant 0.009067 0.1298 0.00405 0.67177 0.292843695462061 0 7.81216708928923e-20 FALSE 4.06072e-05 ENSE00001136002_016 ENSE00001136002 016 5 155419 155588 + 41 99 30 C T 155476 16 58 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAACGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155360 155361 155361 exon 17 0.171717171717172 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGTTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 16 102 1 0.999626019797818 0.999813009898909 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.0199008910358059 0.99398352239689 0.954311705106041 NA 0.0455013047928675 NA FALSE NA 0 0.4 rs142824791 missense_variant MODERATE PLEKHG4B HGNC 29399 ENST00000502646 7/9 rs142824791 1 tolerated(1) benign(0.03) T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0025 T:0 GCT .,T 0.0002059 5:155361 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 missense_variant -0.39153 0.17311 0.01061 0.67177 0.321451548158577 0 7.81216708928923e-20 FALSE 0.000146186 ENSE00001136002_017 ENSE00001136002 017 5 155419 155588 + 41 99 30 C T 155483 17 65 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAATTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155367 155368 155368 exon 24 0.242424242424242 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAATTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 411 164 0.993979752461522 0.9852526824815 0.989616217471511 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0650814710114516 0.00552755371948799 0.99398352239689 0.954311705106041 NA 0.0353045123654698 NA FALSE NA 0.999 2.115 . synonymous_variant LOW PLEKHG4B HGNC 29399 ENST00000502646 7/9 1 NA ACT .,T 8.236e-06 5:155368 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 synonymous_variant 0.399898 0.88397 0.41655 0.67177 0.319696389013461 0 7.81216708928923e-20 FALSE 8.1213e-06 ENSE00001136002_020 ENSE00001136002 020 5 155419 155588 + 41 99 30 T A 155513 20 95 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGATTTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155397 155398 155398 exon -46 0.545454545454545 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAAATCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 1138 618 0.998030675403239 0.991847433454857 0.994939054429048 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0691323939531682 0.0121223046928447 0.99398352239689 0.954311705106041 NA 0.0406273493230064 NA FALSE NA 0.833 0.62 . missense_variant MODERATE PLEKHG4B HGNC 29399 ENST00000502646 7/9 1 tolerated(0.1) benign(0.171) NA ATT .,A 8.236e-06 5:155398 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 missense_variant 2.262523 0.85743 0.26268 0.67177 0.173839512542006 0 7.81216708928923e-20 FALSE 4.06062e-06 ENSE00001136002_021 ENSE00001136002 021 5 155419 155588 + 41 99 30 C T 155526 21 108 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCAAGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155410 155411 155411 exon -33 0.676767676767677 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCTTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 210 383 0.996216035480347 0.985420972566351 0.990818504023349 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0673177540302765 0.00569584380433896 0.99398352239689 0.954311705106041 NA 0.0365067989173077 NA FALSE NA 0.964 2.155 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:155411 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 synonymous_variant 1.632629 0.95933 0.62431 0.67177 0.765064104934298 0 7.81216708928923e-20 FALSE 4.06068e-06 ENSE00001136002_022 ENSE00001136002 022 5 155419 155588 + 41 99 30 C A 155526 22 108 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGGTTCTGTGGGTGTTCATGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155410 155411 155411 exon -33 0.676767676767677 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCATGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 354 218 1 1 1 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.020274871237988 0.99398352239689 0.954311705106041 NA 0.0456882948939585 NA FALSE NA 0.964 2.155 NA NA NA PLEKHG4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG4B NA NA NA ENSG00000153404 ENSE00001136002 missense_variant 4.181586 0.96076 0.69684 0.67177 0.994608534380441 0 7.81216708928923e-20 FALSE 4.06068e-06 ENSE00001136002_025 ENSE00001136002 025 5 155419 155588 + 41 99 30 C T 155542 25 124 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTTGGGATTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155426 155427 155427 exon -17 0.838383838383838 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAATCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 200 462 0.804514276626651 0.998921895574041 0.901718086100346 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA -0.12438400482342 0.0191967668120289 0.99398352239689 0.954311705106041 NA -0.0525936190056958 NA FALSE NA 0.022 0.348 . missense_variant MODERATE PLEKHG4B HGNC 29399 ENST00000502646 7/9 rs559494070 1 tolerated(0.15) benign(0.211) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACC C,T 8.236e-06 5:155427 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 missense_variant 0.602622 0.15619 0.01112 0.67177 0.82643864274397 0 7.81216708928923e-20 FALSE 4.06075e-06 ENSE00001136002_026 ENSE00001136002 026 5 155419 155588 + 41 99 30 A G 155546 26 128 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTCTCGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155430 155431 155431 exon -13 0.878787878787879 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCGAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 865 57 1 0.997215188099832 0.998607594049916 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.0174900593378203 0.99398352239689 0.954311705106041 NA 0.0442958889438747 NA FALSE NA 0.002 -0.246 . synonymous_variant LOW PLEKHG4B HGNC 29399 ENST00000502646 7/9 1 NA CAA A,G 1.647e-05 5:155431 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 synonymous_variant -0.21025 0.11349 0.00708 0.67177 0.554901165240916 0 7.81216708928923e-20 FALSE 8.12137e-06 ENSE00001136002_027 ENSE00001136002 027 5 155419 155588 + 41 99 30 G A 155548 27 130 ATGAACTTACCTGCAAGTCTGAGGACTCACCTGGGCTGTTTTTGGGGTTCTGTGGGTGTTCAGGGAGCAGAATGAATTCTGTAGGAAAATGATGGCTTCTTCACAGTTTGCAGCGAAGTGTTCCAGCCTCTGTTGTGAGTTGAGAGGGAGGAGATTATAAGAACACAGTC 155303 155473 155432 155433 155433 exon -11 0.898989898989899 GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAAAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT GACTGTGTTCTTATAATCTCCTCCCTCTCAACTCACAACAGAGGCTGGAACACTTCGCTGCAAACTGTGAAGAAGCCATCATTTTCCTACAGAATTCATTCTGCTCCCTGAACACCCACAGAACCCCAAGAACAGCCCAGGTGAGTCCTCAGACTTGCAGGTAAGTTCAT mutant NA NA NA NA NA 135 605 1 0.997961329173778 0.998980664586889 0.996507346470874 0.991459698322907 0.928898281450071 0.979725128762012 NA NA 0.0711017185499291 0.0182362004117657 0.99398352239689 0.954311705106041 NA 0.0446689594808474 NA FALSE NA 0.837 1.282 . missense_variant MODERATE PLEKHG4B HGNC 29399 ENST00000502646 7/9 1 tolerated(0.47) benign(0.012) NA AGA G,A 8.236e-06 5:155433 PLEKHG4B HGNC Symbol protein_coding 97821 ENSG00000153404 ENSE00001136002 missense_variant -0.566426 0.17742 0.04475 0.67177 0.49331899875504 0 7.81216708928923e-20 FALSE 4.06105e-06 ENSE00001136608_000 ENSE00001136608 000 4 7820771 7820940 - 32 96 42 NA NA NA NA NA CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 NA NA NA NA NA NA CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG natural 42 31 0.96809346569075 0.995949057352137 0.982021261521443 1104 216 0.996984627467831 0.997676145196249 0.99733038633204 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 0 0 0 0 0.982021261521443 0.99733038633204 0 0 0 FALSE FALSE NA NA NA NA NA AFAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFAP1 NA NA NA ENSG00000196526 ENSE00001136608 NA NA NA NA NA NA NA 0.376071779661091 FALSE NA ENSE00001136608_001 ENSE00001136608 001 4 7820771 7820940 - 32 96 42 C T 7820781 449 160 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGAGTGGGGACGG 7819043 7819213 7819053 7819054 7819054 downstr_intron 22 1.70967741935484 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGAGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 95 277 1 1 1 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00266961366796009 NA FALSE NA 0.001 0.695 . intron_variant MODIFIER AFAP1 HGNC 24017 ENST00000382543 6/16 1 NA CCC C,T 1.647e-05 4:7819054 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 intron_variant 0.136445 0.11737 0.02437 0.062308 0.704554343307114 0.0471188 0.376071779661091 FALSE 1.3657e-05 ENSE00001136608_002 ENSE00001136608 002 4 7820771 7820940 - 32 96 42 G A 7820788 450 153 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTTTTGCTGGGTGGGGACGG 7819043 7819213 7819060 7819061 7819061 downstr_intron 15 1.48387096774194 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTTTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 199 254 1 1 1 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00266961366796009 NA FALSE NA 0 -0.14 . intron_variant MODIFIER AFAP1 HGNC 24017 ENST00000382543 6/16 1 NA AGA G,A 2.471e-05 4:7819061 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 intron_variant 0.148374 0.13327 0.01903 0.080785 0.336563943250342 0.0471188 0.376071779661091 FALSE 1.30408e-05 ENSE00001136608_003 ENSE00001136608 003 4 7820771 7820940 - 32 96 42 G A 7820790 451 151 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGTTCTTGCTGGGTGGGGACGG 7819043 7819213 7819062 7819063 7819063 downstr_intron 13 1.41935483870968 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGTTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 274 105 0.999095328803396 1 0.999547664401698 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.0021107013355649 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.0022172780696581 NA FALSE NA 0 -1.057 . intron_variant MODIFIER AFAP1 HGNC 24017 ENST00000382543 6/16 rs377095053 1 NA A:0 A:0.0001 AGC G,A 1.647e-05 4:7819063 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 intron_variant -0.080221 0.07354 0.00266 0.080785 0.404987032083787 0.0393246 0.376071779661091 FALSE 2.15309e-05 ENSE00001136608_004 ENSE00001136608 004 4 7820771 7820940 - 32 96 42 C T 7820794 452 147 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCACTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819066 7819067 7819067 downstr_intron 9 1.29032258064516 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCACTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 102 13 1 1 1 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00266961366796009 NA FALSE NA 0 -3.712 . intron_variant MODIFIER AFAP1 HGNC 24017 ENST00000382543 6/16 rs200263845 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCG C,T 2.471e-05 4:7819067 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 intron_variant 0.018329 0.08281 0.00402 0.080785 0.655686900633681 0.0459291 0.376071779661091 FALSE 2.13836e-05 ENSE00001136608_010 ENSE00001136608 010 4 7820771 7820940 - 32 96 42 C T 7820827 458 114 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCAGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819099 7819100 7819100 exon -25 0.75 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCAGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 47 42 0.8 1 0.9 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA -0.196984627467831 0.0023238548037513 0.982021261521443 0.99733038633204 NA -0.0973303863320398 NA FALSE NA 0 -3.769 . synonymous_variant LOW AFAP1 HGNC 24017 ENST00000382543 6/17 rs199560271 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 T:0 T:0.0001 CCG C,T 0.000313 4:7819100 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 synonymous_variant 1.716109 0.10678 0.01205 0.706298 0.513727007443246 0 0.376071779661091 FALSE 0.000334148 ENSE00001136608_012 ENSE00001136608 012 4 7820771 7820940 - 32 96 42 T C 7820836 460 105 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCGAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819108 7819109 7819109 exon -34 0.65625 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCGAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 532 71 1 1 1 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00266961366796009 NA FALSE NA 0.005 -1.65 . synonymous_variant LOW AFAP1 HGNC 24017 ENST00000382543 6/17 rs200660815 1 NA TTG T,C 4.118e-05 4:7819109 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 synonymous_variant -1.523295 0.09463 0.02365 0.706298 0.300107665873255 0 0.376071779661091 FALSE 4.4746e-05 ENSE00001136608_013 ENSE00001136608 013 4 7820771 7820940 - 32 96 42 G A 7820840 461 101 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCTACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819112 7819113 7819113 exon -38 0.614583333333333 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCTACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 199 43 1 0.995448386101511 0.997724193050755 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 -0.00222775909473816 0.982021261521443 0.99733038633204 NA 0.000393806718715362 NA FALSE NA 0.153 1.802 . missense_variant MODERATE AFAP1 HGNC 24017 ENST00000382543 6/17 1 tolerated(0.7) benign(0.003) NA TGG G,A 8.236e-06 4:7819113 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 missense_variant 0.297922 0.27053 0.11919 0.706298 0.335240441234204 0 0.376071779661091 FALSE 1.62731e-05 ENSE00001136608_015 ENSE00001136608 015 4 7820771 7820940 - 32 96 42 G A 7820844 463 97 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTTCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819116 7819117 7819117 exon -42 0.572916666666667 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTTCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 52 35 1 1 1 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00266961366796009 NA FALSE NA 0.914 2.302 . missense_variant MODERATE AFAP1 HGNC 24017 ENST00000382543 6/17 1 tolerated(0.41) benign(0.011) NA GGA G,A 8.236e-06 4:7819117 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 missense_variant -0.725045 0.41037 0.58824 0.706298 0.440505526754983 0 0.376071779661091 FALSE 8.13471e-06 ENSE00001136608_016 ENSE00001136608 016 4 7820771 7820940 - 32 96 42 A G 7820845 464 96 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCCCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819117 7819118 7819118 exon -43 0.5625 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCCCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 16 73 1 1 1 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00266961366796009 NA FALSE NA 0 -1.177 . synonymous_variant LOW AFAP1 HGNC 24017 ENST00000382543 6/17 1 NA GAG A,G 8.236e-06 4:7819118 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 synonymous_variant -0.406581 0.15344 0.03896 0.706298 0.411560842621046 0 0.376071779661091 FALSE 8.13445e-06 ENSE00001136608_017 ENSE00001136608 017 4 7820771 7820940 - 32 96 42 A T 7820850 465 91 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGAGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819122 7819123 7819123 exon -48 0.510416666666667 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGAGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 793 166 0.998747798996273 1 0.999373899498136 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00176317152844196 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00204351316609663 NA FALSE NA 0.298 1.404 . missense_variant MODERATE AFAP1 HGNC 24017 ENST00000382543 6/17 rs562417220 1 tolerated(0.73) benign(0.034) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CAC A,T 8.236e-06 4:7819123 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 missense_variant -2.186084 0.26795 0.11878 0.706548 0.280283666444961 0 0.376071779661091 FALSE 4.06841e-06 ENSE00001136608_019 ENSE00001136608 019 4 7820771 7820940 - 32 96 42 G A 7820864 467 77 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCTCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819136 7819137 7819137 exon 35 0.364583333333333 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCTCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 26 131 1 1 1 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00266961366796009 NA FALSE NA 0.011 1.353 . missense_variant MODERATE AFAP1 HGNC 24017 ENST00000382543 6/17 rs369244236 1 tolerated(0.23) benign(0.001) NA A:0 A:0.0001 GGG G,A 8.236e-06 4:7819137 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 missense_variant 0.657372 0.3016 0.15994 0.706548 0.605765504227313 0 0.376071779661091 FALSE 4.07083e-06 ENSE00001136608_021 ENSE00001136608 021 4 7820771 7820940 - 32 96 42 C T 7820873 469 68 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTATAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819145 7819146 7819146 exon 26 0.270833333333333 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTATAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 19 498 1 0.99632547082947 0.998162735414735 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 -0.00135067436677871 0.982021261521443 0.99733038633204 NA 0.000832349082695083 NA FALSE NA 0.998 3.999 . missense_variant MODERATE AFAP1 HGNC 24017 ENST00000382543 6/17 1 tolerated(0.25) benign(0.141) NA ACA C,T 2.471e-05 4:7819146 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 missense_variant 0.890927 0.99211 0.96369 0.706548 0.390978819828849 0 0.376071779661091 FALSE 2.03742e-05 ENSE00001136608_024 ENSE00001136608 024 4 7820771 7820940 - 32 96 42 G T 7820885 472 56 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGACTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819157 7819158 7819158 exon 14 0.145833333333333 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGACTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 72 155 1 0.998978287976938 0.999489143988469 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.00130214278068919 0.982021261521443 0.99733038633204 NA 0.00215875765642903 NA FALSE NA 1 4.02 . missense_variant MODERATE AFAP1 HGNC 24017 ENST00000382543 6/17 1 deleterious(0) possibly_damaging(0.633) NA GGC G,T 8.237e-06 4:7819158 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 missense_variant 5.177885 0.98573 0.88454 0.706298 0.996188867324711 0 0.376071779661091 FALSE 8.23269e-06 ENSE00001136608_031 ENSE00001136608 031 4 7820771 7820940 - 32 96 42 G C 7820908 479 33 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGGTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819180 7819181 7819181 upstr_intron -10 -0.214285714285714 CTGCCTTTGGGCATACTCACAAAGTGTCTGTGGTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 408 441 0.998986948671152 0.999567346988417 0.999277147829785 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00200232120332111 0.00189120179216828 0.982021261521443 0.99733038633204 NA 0.0019467614977447 NA FALSE NA 0.003 0.789 NA NA NA AFAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:7819181 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 intron_variant -0.20083 0.35781 0.05789 0.062308 0.558665556420408 0.180099 0.376071779661091 FALSE 4.20829e-06 ENSE00001136608_034 ENSE00001136608 034 4 7820771 7820940 - 32 96 42 T C 7820919 482 22 CTGCCTTTGGGCATACTCACAGAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819191 7819192 7819192 upstr_intron -21 -0.476190476190476 CTGCCTTTGGGCATACTCACAGAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 341 356 1 1 1 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00301537253216888 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00266961366796009 NA FALSE NA 0 -0.243 . intron_variant MODIFIER AFAP1 HGNC 24017 ENST00000382543 5/16 rs201431068 1 C:0.0018 C:0 C:0 NA C:0.0069 C:0 C:0.002 TTT T,C 0.001145 4:7819192 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 intron_variant 0.120856 0.15977 0.02443 0.062308 0.490175213344393 0.152245 0.376071779661091 FALSE 0.00116225 ENSE00001136608_036 ENSE00001136608 036 4 7820771 7820940 - 32 96 42 A G 7820927 484 14 CTGCCTTTGGGCACACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819199 7819200 7819200 upstr_intron -29 -0.666666666666667 CTGCCTTTGGGCACACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 716 900 0.999481557506393 1 0.999740778753196 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA 0.00249693003856177 0.0023238548037513 0.982021261521443 0.99733038633204 NA 0.00241039242115654 NA FALSE NA 0 -0.627 . intron_variant MODIFIER AFAP1 HGNC 24017 ENST00000382543 5/16 1 NA TAT A,G 3.295e-05 4:7819200 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 intron_variant -0.095394 0.13592 0.022 0.062308 0.660351093443078 0.152245 0.376071779661091 FALSE 3.98438e-05 ENSE00001136608_037 ENSE00001136608 037 4 7820771 7820940 - 32 96 42 T C 7820928 485 13 CTGCCTTTGGGCGTACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG 7819043 7819213 7819200 7819201 7819201 upstr_intron -30 -0.69047619047619 CTGCCTTTGGGCGTACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG CTGCCTTTGGGCATACTCACAAAGTGTCTGTGCTTTTTATAGGTGATCAAAGAAGCCTACAGTGGTTGTAGTGGCCCCGTGGATTCAGAGTGTCCTCCTCCACCAAGCTCCCCGGTGCACAAGGCAGAACTGGAGAAGGTAAGGGCGCTGCTCTTGCTGGGTGGGGACGG mutant NA NA NA NA NA 243 65 0.994628757472707 0.858450545406758 0.926539651439733 0.96809346569075 0.995949057352137 0.996984627467831 0.997676145196249 NA NA -0.00235586999512383 -0.13922559978949 0.982021261521443 0.99733038633204 NA -0.070790734892307 NA FALSE NA 0 -1.687 NA NA NA AFAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:7819201 AFAP1 HGNC Symbol protein_coding 181212 ENSG00000196526 ENSE00001136608 intron_variant -0.031414 0.15561 0.0095 0.062308 0.706317651905383 0.180099 0.376071779661091 FALSE 0.000106642 ENSE00001136679_000 ENSE00001136679 000 2 135185883 135186052 + 53 75 42 NA NA NA NA NA TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 NA NA NA NA NA NA TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC natural 73 51 0.998422264398709 0.998924439414217 0.998673351906463 3212 3760 0.978800178482463 0.993833116940479 0.986316647711471 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 0 0 0 0 0.998673351906463 0.986316647711471 0 0 0 FALSE FALSE NA NA NA NA NA MGAT5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5 NA NA NA ENSG00000152127 ENSE00001136679 NA NA NA NA NA NA NA 0.999925016569622 TRUE NA ENSE00001136679_001 ENSE00001136679 001 2 135185883 135186052 + 53 75 42 G A 135185898 2752 16 TGCTACATGTTCTCTATCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428326 134428327 134428327 upstr_intron -38 -0.69811320754717 TGCTACATGTTCTCTATCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 1048 790 0.998537937230835 0.995164658161527 0.996851297696181 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0197377587483712 0.0013315412210485 0.998673351906463 0.986316647711471 NA 0.0105346499847099 NA FALSE NA 0 0.009 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 13/15 1 NA TGT G,A 8.236e-06 2:134428327 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 intron_variant 0.156726 0.23832 0.04463 0.256867 0.792818060148275 0.0851235 0.999925016569622 TRUE 4.0777e-06 ENSE00001136679_003 ENSE00001136679 003 2 135185883 135186052 + 53 75 42 C T 135185910 2754 28 TGCTACATGTTCTCTGTCCTTCTCCTTTATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428338 134428339 134428339 upstr_intron -26 -0.471698113207547 TGCTACATGTTCTCTGTCCTTCTCCTTTATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 499 293 1 1 1 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00616688305952107 0.998673351906463 0.986316647711471 NA 0.0136833522885289 NA FALSE NA 0.001 0.288 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 13/15 1 NA TCA C,T 1.647e-05 2:134428339 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 intron_variant 1.614083 0.37959 0.09695 0.256867 0.832825081012029 0.289887 0.999925016569622 TRUE 8.14286e-06 ENSE00001136679_004 ENSE00001136679 004 2 135185883 135186052 + 53 75 42 A T 135185916 2755 34 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTTTCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428344 134428345 134428345 upstr_intron -20 -0.358490566037736 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTTTCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 307 1404 1 0.998984846209511 0.999492423104756 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00515172926903251 0.998673351906463 0.986316647711471 NA 0.0131757753932846 NA FALSE NA 0 0.047 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 13/15 1 NA TAT A,T 8.236e-06 2:134428345 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 intron_variant 0.421277 0.2204 0.04187 0.256867 0.706003554720114 0.289887 0.999925016569622 TRUE 4.06808e-06 ENSE00001136679_005 ENSE00001136679 005 2 135185883 135186052 + 53 75 42 G C 135185926 2756 44 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTCTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428354 134428355 134428355 upstr_intron -10 -0.169811320754717 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTCTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 720 300 0.994202763782137 1 0.997101381891068 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0154025852996736 0.00616688305952107 0.998673351906463 0.986316647711471 NA 0.0107847341795974 NA FALSE NA 0.614 -0.046 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 13/15 1 NA TGT G,C 3.295e-05 2:134428355 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 intron_variant 1.287104 0.94308 0.70935 0.256867 0.667391060299638 0.392661 0.999925016569622 TRUE 4.47333e-05 ENSE00001136679_006 ENSE00001136679 006 2 135185883 135186052 + 53 75 42 A G 135185936 2757 54 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGGTTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428364 134428365 134428365 exon 1 0.0133333333333333 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGGTTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 284 38 1 1 1 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00616688305952107 0.998673351906463 0.986316647711471 NA 0.0136833522885289 NA FALSE NA 1 6.279 . missense_variant&splice_region_variant MODERATE MGAT5 HGNC 7049 ENST00000281923 14/16 1 tolerated(1) benign(0.002) NA GAT A,G 8.236e-06 2:134428365 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 missense_variant 1.115564 0.99343 0.97975 0.706548 0.676517742462605 0 0.999925016569622 TRUE 4.0654e-06 ENSE00001136679_008 ENSE00001136679 008 2 135185883 135186052 + 53 75 42 C T 135185947 2759 65 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATATATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428375 134428376 134428376 exon 12 0.16 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATATATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 149 410 1 0.996093684667287 0.998046842333644 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00226056772680827 0.998673351906463 0.986316647711471 NA 0.0117301946221725 NA FALSE NA 0.929 0.014 . synonymous_variant LOW MGAT5 HGNC 7049 ENST00000281923 14/16 1 NA ACA C,T 8.236e-06 2:134428376 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 synonymous_variant 1.474728 0.96482 0.61391 0.706548 0.515859988018723 0 0.999925016569622 TRUE 4.06438e-06 ENSE00001136679_009 ENSE00001136679 009 2 135185883 135186052 + 53 75 42 C T 135185964 2760 82 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTATGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428392 134428393 134428393 exon 29 0.386666666666667 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTATGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 90 245 1 0.995034594525319 0.997517297262659 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00120147758483991 0.998673351906463 0.986316647711471 NA 0.0112006495511883 NA FALSE NA 1 6.725 . missense_variant MODERATE MGAT5 HGNC 7049 ENST00000281923 14/16 rs367720907 1 deleterious(0.01) probably_damaging(0.991) NA T:0 T:0.0002 ACG C,T 2.471e-05 2:134428393 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 missense_variant 7.620757 0.99292 0.97248 0.706548 0.999202232619355 0 0.999925016569622 TRUE 4.0655e-05 ENSE00001136679_010 ENSE00001136679 010 2 135185883 135186052 + 53 75 42 G A 135185965 2761 83 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACATGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428393 134428394 134428394 exon 30 0.4 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACATGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 389 149 1 1 1 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00616688305952107 0.998673351906463 0.986316647711471 NA 0.0136833522885289 NA FALSE NA 0.001 -0.738 . synonymous_variant LOW MGAT5 HGNC 7049 ENST00000281923 14/16 rs545961795 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 3.295e-05 2:134428394 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 synonymous_variant 1.904963 0.2873 0.01776 0.706548 0.544831299951846 0 0.999925016569622 TRUE 2.0325e-05 ENSE00001136679_011 ENSE00001136679 011 2 135185883 135186052 + 53 75 42 C T 135185968 2762 86 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGTGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428396 134428397 134428397 exon 33 0.44 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGTGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 23 320 1 1 1 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00616688305952107 0.998673351906463 0.986316647711471 NA 0.0136833522885289 NA FALSE NA 0.379 -0.351 rs146926321 synonymous_variant LOW MGAT5 HGNC 7049 ENST00000281923 14/16 rs146926321&COSM4084954 1 NA T:0.0009 T:0 GCG C,T 0.0001153 2:134428397 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 synonymous_variant 2.08426 0.93316 0.0854 0.706548 0.500731568077149 0 0.999925016569622 TRUE 0.00012196 ENSE00001136679_013 ENSE00001136679 013 2 135185883 135186052 + 53 75 42 G C 135186015 2764 133 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAACGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428443 134428444 134428444 downstr_intron 5 1.1219512195122 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAACGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 61 165 0.948521252255623 1 0.974260626127812 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA -0.0302789262268404 0.00616688305952107 0.998673351906463 0.986316647711471 NA -0.0120560215836596 NA FALSE NA 1 5.462 . splice_region_variant&intron_variant LOW MGAT5 HGNC 7049 ENST00000281923 14/15 1 NA AGG G,C 8.236e-06 2:134428444 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 splice_region_variant 1.980154 0.98298 0.97458 0.099367 0.952894035472697 0.987846 0.999925016569622 TRUE 4.07342e-06 ENSE00001136679_015 ENSE00001136679 015 2 135185883 135186052 + 53 75 42 C T 135186017 2766 135 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGTTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC 134428311 134428481 134428445 134428446 134428446 downstr_intron 7 1.17073170731707 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGTTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 188 773 1 0.995857988087982 0.997928994043991 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00202487114750338 0.998673351906463 0.986316647711471 NA 0.0116123463325201 NA FALSE NA 0.104 1.19 . splice_region_variant&intron_variant LOW MGAT5 HGNC 7049 ENST00000281923 14/15 rs369771530 1 NA T:0.0011 T:0 GCT C,T 7.413e-05 2:134428446 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 splice_region_variant 1.770827 0.24418 0.03383 0.099367 0.795269275454463 0.422917 0.999925016569622 TRUE 5.29652e-05 ENSE00001136679_017 ENSE00001136679 017 2 135185883 135186052 + 53 75 42 T C 135186034 2768 152 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCCGTCTTTGCTGTGTACTGC 134428311 134428481 134428462 134428463 134428463 downstr_intron 24 1.58536585365854 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCCGTCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 43 240 1 0.999340460075328 0.999670230037664 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.0211998215175367 0.00550734313484913 0.998673351906463 0.986316647711471 NA 0.0133535823261929 NA FALSE NA 0.001 -0.02 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 14/15 1 NA CTG T,C 8.236e-06 2:134428463 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 intron_variant 0.754581 0.22743 0.13464 0.099367 0.663672114775009 0.121998 0.999925016569622 TRUE 4.08644e-06 ENSE00001136679_018 ENSE00001136679 018 2 135185883 135186052 + 53 75 42 T C 135186036 2769 154 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGCCTTTGCTGTGTACTGC 134428311 134428481 134428464 134428465 134428465 downstr_intron 26 1.63414634146341 TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGCCTTTGCTGTGTACTGC TGCTACATGTTCTCTGTCCTTCTCCTTCATGGTATCATGCTCTGTTTCCACAGATTGAGCCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATTGAAAAACAGGTAAGGCTTATCAGAAGTCAGTCTGTCTTTGCTGTGTACTGC mutant NA NA NA NA NA 543 311 0.987929073691409 0.971444475188469 0.979686774439939 0.998422264398709 0.998924439414217 0.978800178482463 0.993833116940479 NA NA 0.00912889520894555 -0.0223886417520099 0.998673351906463 0.986316647711471 NA -0.00662987327153219 NA FALSE NA 0 -0.657 . intron_variant MODIFIER MGAT5 HGNC 7049 ENST00000281923 14/15 1 NA GTC T,C 8.236e-06 2:134428465 MGAT5 HGNC Symbol protein_coding 334638 ENSG00000152127 ENSE00001136679 intron_variant 0.854088 0.2065 0.10483 0.099367 0.681746072045253 0.121998 0.999925016569622 TRUE 4.08607e-06 ENSE00001137121_000 ENSE00001137121 000 7 47853491 47853660 - 38 84 48 NA NA NA NA NA TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 NA NA NA NA NA NA TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT natural 29 38 0.99643915164157 0.986608311708602 0.991523731675086 5491 5671 0.994112907365993 0.990217293440459 0.992165100403226 0.99643915164157 0.986608311708602 0.994112907365993 0.990217293440459 0 0 0 0 0.991523731675086 0.992165100403226 0 0 0 FALSE FALSE NA NA NA NA NA HUS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HUS1 NA NA NA ENSG00000136273 ENSE00003620218 NA NA NA NA NA NA NA 0.000609572433043018 FALSE NA ENSE00001137121_BRK ENSE00001137121 BRK 7 47853491 47853660 - 38 84 48 A,G; T,T NA NA NA TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCTTCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGCCAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 NA NA NA NA NA NA TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCTTCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGCCAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT control 49 103 0 0 0 58 727 0 0.185733963491189 0.0928669817455947 0.99643915164157 0.986608311708602 0.994112907365993 0.990217293440459 -0.99643915164157 -0.986608311708602 -0.994112907365993 -0.804483329949269 0.991523731675086 0.992165100403226 -0.991523731675086 -0.899298118657631 0.0922256130174549 TRUE TRUE NA NA NA NA NA HUS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HUS1 NA NA NA ENSG00000136273 ENSE00003620218 NA NA NA NA NA NA NA 0.000609572433043018 FALSE NA ENSE00001137208_000 ENSE00001137208 000 8 121353492 121353661 + 72 36 62 NA NA NA NA NA AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 NA NA NA NA NA NA AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC natural 29 26 0.998757070667102 0.995788355238994 0.997272712953048 2867 3442 0.977020370315071 0.975928076849755 0.976474223582413 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 0 0 0 0 0.997272712953048 0.976474223582413 0 0 0 FALSE FALSE NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00001137208 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00001137208_001 ENSE00001137208 001 8 121353492 121353661 + 72 36 62 C T 121353513 1958 22 AAAAGATGCATGATTATCACTTTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341273 120341274 120341274 upstr_intron -51 -0.694444444444444 AAAAGATGCATGATTATCACTTTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 348 1055 1 0.997879945506572 0.998939972753286 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0229796296849292 0.0219518686568164 0.997272712953048 0.976474223582413 NA 0.0224657491708728 NA FALSE NA 0 -0.701 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 1 NA TCT C,T 1.647e-05 8:120341274 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.074558 0.15107 0.03886 0.053691 0.367045556344922 0.0443366 0.00136791753453828 FALSE 8.1361e-06 ENSE00001137208_002 ENSE00001137208 002 8 121353492 121353661 + 72 36 62 C G 121353525 1959 34 AAAAGATGCATGATTATCACTCTTAGCTAAGTGGAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341285 120341286 120341286 upstr_intron -39 -0.527777777777778 AAAAGATGCATGATTATCACTCTTAGCTAAGTGGAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 285 1486 1 0.997115485337284 0.998557742668642 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0229796296849292 0.0211874084875291 0.997272712953048 0.976474223582413 NA 0.0220835190862291 NA FALSE NA 0 -0.071 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 rs561898131 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GCA C,G 8.236e-06 8:120341286 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant -0.382573 0.20873 0.06308 0.053691 0.634046222096714 0.0443366 0.00136791753453828 FALSE 4.06464e-06 ENSE00001137208_003 ENSE00001137208 003 8 121353492 121353661 + 72 36 62 A G 121353527 1960 36 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAGTATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341287 120341288 120341288 upstr_intron -37 -0.5 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAGTATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 551 44 0.99902498195577 1 0.999512490977885 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0220046116406989 0.0240719231502449 0.997272712953048 0.976474223582413 NA 0.0230382673954719 NA FALSE NA 0 0.007 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 1 NA AAT A,G 8.236e-06 8:120341288 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.396737 0.09293 0.00272 0.053691 0.596181340917815 0.0443366 0.00136791753453828 FALSE 4.06332e-06 ENSE00001137208_004 ENSE00001137208 004 8 121353492 121353661 + 72 36 62 C A 121353540 1961 49 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAAATTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341300 120341301 120341301 upstr_intron -24 -0.319444444444444 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAAATTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 406 312 0.988622805821373 0.920457372121006 0.954540088971189 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0116024355063022 -0.0554707047287494 0.997272712953048 0.976474223582413 NA -0.0219341346112236 NA FALSE NA 0.543 0.436 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 1 NA ACT C,A 8.236e-06 8:120341301 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 1.629194 0.23135 0.55782 0.053691 0.776993289564795 0.0640786 0.00136791753453828 FALSE 4.06276e-06 ENSE00001137208_005 ENSE00001137208 005 8 121353492 121353661 + 72 36 62 C G 121353545 1962 54 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGAGAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341305 120341306 120341306 upstr_intron -19 -0.25 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGAGAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 336 527 1 0.999699782928937 0.999849891464469 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0229796296849292 0.0237717060791823 0.997272712953048 0.976474223582413 NA 0.0233756678820558 NA FALSE NA 0 -0.24 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 1 NA ACA C,G 8.236e-06 8:120341306 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant -0.046417 0.19643 0.09528 0.053691 0.487208854532248 0.0640786 0.00136791753453828 FALSE 4.06233e-06 ENSE00001137208_007 ENSE00001137208 007 8 121353492 121353661 + 72 36 62 A G 121353547 1964 56 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAGTTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341307 120341308 120341308 upstr_intron -17 -0.222222222222222 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAGTTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 755 1824 0.638105425893576 0.616027260072969 0.627066342983272 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA -0.338914944421495 -0.359900816776787 0.997272712953048 0.976474223582413 NA -0.349407880599141 NA FALSE NA 0 -0.3 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 1 NA AAT A,G 8.236e-06 8:120341308 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant -0.030277 0.28347 0.09854 0.053691 0.584978461961024 0.0640786 0.00136791753453828 FALSE 8.12427e-06 ENSE00001137208_008 ENSE00001137208 008 8 121353492 121353661 + 72 36 62 C A 121353553 1965 62 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCAATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341313 120341314 120341314 upstr_intron -11 -0.138888888888889 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCAATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 2101 450 0.998430074674778 0.995612302442462 0.99702118855862 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0214097043597068 0.0196842255927069 0.997272712953048 0.976474223582413 NA 0.0205469649762068 NA FALSE NA 0 -0.951 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 rs375361027 1 NA A:0 A:0.0001 CCA C,A 4.942e-05 8:120341314 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.052027 0.18469 0.00728 0.053691 0.497272489880825 0.11464 0.00136791753453828 FALSE 4.06213e-05 ENSE00001137208_009 ENSE00001137208 009 8 121353492 121353661 + 72 36 62 A C 121353554 1966 63 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCCTTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341314 120341315 120341315 upstr_intron -10 -0.125 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCCTTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 2922 10 0.983466401735909 0.8 0.891733200867954 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.00644603142083811 -0.175928076849755 0.997272712953048 0.976474223582413 NA -0.0847410227144585 NA FALSE NA 0 -0.367 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 42/47 rs531876704 1 NA CAT A,C 8.236e-06 8:120341315 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant -0.057165 0.17771 0.05092 0.053691 0.386659358928936 0.122133 0.00136791753453828 FALSE 8.12321e-06 ENSE00001137208_010 ENSE00001137208 010 8 121353492 121353661 + 72 36 62 T G 121353557 1967 66 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTGATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341317 120341318 120341318 upstr_intron -7 -0.0833333333333333 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTGATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 351 248 0.994601482476943 0.994398044570956 0.99449976352395 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0175811121618725 0.0184699677212006 0.997272712953048 0.976474223582413 NA 0.0180255399415366 NA FALSE NA 0 -0.146 . splice_region_variant&intron_variant LOW COL14A1 HGNC 2191 ENST00000309791 42/47 1 NA TTA T,G 4.942e-05 8:120341318 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 splice_region_variant -0.387041 0.1886 0.14251 0.053691 0.417544448617923 0.218943 0.00136791753453828 FALSE 4.06171e-05 ENSE00001137208_012 ENSE00001137208 012 8 121353492 121353661 + 72 36 62 C T 121353561 1969 70 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATATAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341321 120341322 120341322 upstr_intron -3 -0.0277777777777778 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATATAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 282 50 0.99945615369657 1 0.999728076848285 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0224357833814993 0.0240719231502449 0.997272712953048 0.976474223582413 NA 0.0232538532658721 NA FALSE NA 0.515 1.089 rs148736776 splice_region_variant&intron_variant LOW COL14A1 HGNC 2191 ENST00000309791 42/47 rs148736776 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACA C,T 8.236e-06 8:120341322 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 splice_region_variant 0.825005 0.97137 0.6754 0.053691 0.515561623108477 0.433531 0.00136791753453828 FALSE 4.0619e-06 ENSE00001137208_014 ENSE00001137208 014 8 121353492 121353661 + 72 36 62 A G 121353587 1971 96 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAGCGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341347 120341348 120341348 exon -13 0.666666666666667 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAGCGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 23 420 1 1 1 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0229796296849292 0.0240719231502449 0.997272712953048 0.976474223582413 NA 0.023525776417587 NA FALSE NA 0.526 -0.277 rs61733752 synonymous_variant LOW COL14A1 HGNC 2191 ENST00000309791 43/48 rs61733752 1 G:0.0050 G:0.0182 G:0.0014 NA G:0 G:0 G:0 G:0.0125 G:0 AAC A,G 0.00117 8:120341348 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 synonymous_variant -0.616994 0.18025 0.00988 0.706298 0.373200687223022 0 0.00136791753453828 FALSE 0.000885409 ENSE00001137208_015 ENSE00001137208 015 8 121353492 121353661 + 72 36 62 G A 121353589 1972 98 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACAAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341349 120341350 120341350 exon -11 0.722222222222222 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACAAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 212 526 1 0.969295663666323 0.984647831833162 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0229796296849292 -0.00663241318343222 0.997272712953048 0.976474223582413 NA 0.00817360825074848 NA FALSE NA 0.997 4.913 . missense_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 43/48 rs368279445&COSM376457 1 deleterious(0) possibly_damaging(0.778) NA A:0 A:0.0001 CGA G,A 8.236e-06 8:120341350 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 missense_variant 5.133989 0.98999 0.96247 0.706298 0.999262206666725 0 0.00136791753453828 FALSE NA ENSE00001137208_016 ENSE00001137208 016 8 121353492 121353661 + 72 36 62 G A 121353598 1973 107 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCAGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341358 120341359 120341359 exon -2 0.972222222222222 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCAGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 1073 892 0.992620709116715 0.999786391967486 0.9962035505421 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0156003388016442 0.0238583151177304 0.997272712953048 0.976474223582413 NA 0.0197293269596873 NA FALSE NA 1 6.705 . missense_variant&splice_region_variant MODERATE COL14A1 HGNC 2191 ENST00000309791 43/48 1 deleterious(0) probably_damaging(0.996) NA CGG G,A 4.118e-05 8:120341359 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 missense_variant 5.167359 0.99109 0.98069 0.706298 0.999300168843225 0 0.00136791753453828 FALSE 2.43768e-05 ENSE00001137208_017 ENSE00001137208 017 8 121353492 121353661 + 72 36 62 C T 121353609 1974 118 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCTTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341369 120341370 120341370 downstr_intron 10 1.16393442622951 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCTTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 1676 1574 0.989840956449942 0.997942798011109 0.993891877230525 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.012820586134871 0.0220147211613538 0.997272712953048 0.976474223582413 NA 0.0174176536481124 NA FALSE NA 0 -1.115 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 1 NA CCT C,T 8.236e-06 8:120341370 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.269799 0.17549 0.01902 0.053691 0.495923269803251 0.085777 0.00136791753453828 FALSE 4.0662e-06 ENSE00001137208_018 ENSE00001137208 018 8 121353492 121353661 + 72 36 62 C T 121353620 1975 129 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGTTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341380 120341381 120341381 downstr_intron 21 1.34426229508197 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGTTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 283 221 0.993176531484291 0.966616640736539 0.979896586110415 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0161561611692198 -0.00931143611321639 0.997272712953048 0.976474223582413 NA 0.00342236252800171 NA FALSE NA 0 -0.688 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 rs562296818 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCT C,T 8.236e-06 8:120341381 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.245651 0.10808 0.00176 0.053691 0.711309597750755 0.0436289 0.00136791753453828 FALSE 4.07027e-06 ENSE00001137208_019 ENSE00001137208 019 8 121353492 121353661 + 72 36 62 G C 121353626 1976 135 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTCGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341386 120341387 120341387 downstr_intron 27 1.44262295081967 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTCGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 466 204 1 0.999813229105424 0.999906614552712 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0229796296849292 0.0238851522556689 0.997272712953048 0.976474223582413 NA 0.023432390970299 NA FALSE NA 0.01 0.532 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 1 NA TGG G,C 8.236e-06 8:120341387 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.200631 0.27028 0.10347 0.053691 0.552044215185101 0.0436289 0.00136791753453828 FALSE 4.07239e-06 ENSE00001137208_020 ENSE00001137208 020 8 121353492 121353661 + 72 36 62 C A 121353629 1977 138 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCACCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341389 120341390 120341390 downstr_intron 30 1.49180327868852 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCACCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 1039 79 0.913037965358464 1 0.956518982679232 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA -0.0639824049566069 0.0240719231502449 0.997272712953048 0.976474223582413 NA -0.019955240903181 NA FALSE NA 0 -0.276 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 1 NA CCC C,A 8.236e-06 8:120341390 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.555507 0.1854 0.0461 0.053691 0.745988796671366 0.0436289 0.00136791753453828 FALSE 4.07717e-06 ENSE00001137208_021 ENSE00001137208 021 8 121353492 121353661 + 72 36 62 C T 121353630 1978 139 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCTCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341390 120341391 120341391 downstr_intron 31 1.50819672131148 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCTCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 1485 429 0.996842966924275 0.995398008952589 0.996120487938432 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0198225966092044 0.0194699321028334 0.997272712953048 0.976474223582413 NA 0.0196462643560189 NA FALSE NA 0 -2.098 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 rs574217759 1 T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 CCC C,T 0.0006177 8:120341391 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.28104 0.12884 0.01297 0.053691 0.708081140794536 0.0436289 0.00136791753453828 FALSE 0.000591118 ENSE00001137208_022 ENSE00001137208 022 8 121353492 121353661 + 72 36 62 C T 121353634 1979 143 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGTTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 120341394 120341395 120341395 downstr_intron 35 1.57377049180328 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGTTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 723 204 0.999575832156994 0.999626019797818 0.999600925977406 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0225554618419227 0.0236979429480628 0.997272712953048 0.976474223582413 NA 0.0231267023949928 NA FALSE NA 0 0.332 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 1 NA GCT C,T 8.236e-06 8:120341395 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.015131 0.16671 0.03959 0.053691 0.561804742588595 0.0436289 0.00136791753453828 FALSE 4.08293e-06 ENSE00001137208_024 ENSE00001137208 024 8 121353492 121353661 + 72 36 62 C A 121353645 1981 154 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCACTTCCATTGCATAAGC 120341252 120341422 120341405 120341406 120341406 downstr_intron 46 1.75409836065574 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCACTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 274 118 0.990274603505437 1 0.995137301752718 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0132542331903657 0.0240719231502449 0.997272712953048 0.976474223582413 NA 0.0186630781703053 NA FALSE NA 0 -0.913 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 1 NA CCC C,A 8.236e-06 8:120341406 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.130121 0.15137 0.0253 0.053691 0.524570101569233 0.0436289 0.00136791753453828 FALSE NA ENSE00001137208_025 ENSE00001137208 025 8 121353492 121353661 + 72 36 62 C T 121353649 1982 158 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTTCATTGCATAAGC 120341252 120341422 120341409 120341410 120341410 downstr_intron 50 1.81967213114754 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTTCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 159 270 1 0.987974469998602 0.993987234999301 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0229796296849292 0.0120463931488471 0.997272712953048 0.976474223582413 NA 0.0175130114168882 NA FALSE NA 0 0.285 . intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 1 NA TCC C,T 8.236e-06 8:120341410 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.276987 0.18083 0.00916 0.053691 0.667926978592253 0.099547 0.00136791753453828 FALSE 4.10664e-06 ENSE00001137208_026 ENSE00001137208 026 8 121353492 121353661 + 72 36 62 A G 121353651 1983 160 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCGTTGCATAAGC 120341252 120341422 120341411 120341412 120341412 downstr_intron 52 1.85245901639344 AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCGTTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC mutant NA NA NA NA NA 1262 109 0.998820100986659 0.979953175315951 0.989386638151305 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA 0.0217997306715884 0.00402509846619614 0.997272712953048 0.976474223582413 NA 0.0129124145688922 NA FALSE NA 0 -1.379 rs1563391 intron_variant MODIFIER COL14A1 HGNC 2191 ENST00000309791 43/47 rs1563391 1 A:0.4834 G:0.674 G:0.464 NA G:0.4395 G:0.4334 G:0.5061 G:0.6477 G:0.4368 CAT A,G 0.464 8:120341412 COL14A1 HGNC Symbol protein_coding 312256 ENSG00000187955 ENSE00001137208 intron_variant 0.174426 0.16522 0.00788 0.053691 0.507780042752045 0.099547 0.00136791753453828 FALSE 0.460715 ENSE00001137208_BRK ENSE00001137208 BRK 8 121353492 121353661 + 72 36 62 A,G; T,T NA NA NA AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACTTGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGCCAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC 120341252 120341422 NA NA NA NA NA NA AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACTTGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGCCAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC AAAAGATGCATGATTATCACTCTTAGCTAAGTGCAATATCATAAGTAACTTGACAATTTTCCATTTATACAGGGTGTCCCTGGAGCAAAGGGGGAACGAGGAGAGCGGGTAAGTATCCTGTGGCTCTGCTTTCTGGCCCCAGCTTGTTGCACCCCTTCCATTGCATAAGC control NA NA NA NA NA 691 134 0 0 0 0.998757070667102 0.995788355238994 0.977020370315071 0.975928076849755 NA NA -0.977020370315071 -0.975928076849755 0.997272712953048 0.976474223582413 NA -0.976474223582413 NA TRUE NA NA NA NA NA NA COL14A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL14A1 NA NA NA ENSG00000187955 ENSE00001137208 NA NA NA NA NA NA NA 0.00136791753453828 FALSE NA ENSE00001137258_000 ENSE00001137258 000 18 21056920 21057089 + 50 81 39 NA NA NA NA NA TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 NA NA NA NA NA NA TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT natural 35 38 0.989919095795508 0.979669901262245 0.984794498528876 9951 7111 0.942208677322524 0.767595750045052 0.854902213683788 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 0 0 0 0 0.984794498528876 0.854902213683788 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RIOK3 NA NA NA ENSG00000101782 ENSE00003604813 NA NA NA NA NA NA NA 0.000146775088539085 FALSE NA ENSE00001137258_001 ENSE00001137258 001 18 21056920 21057089 + 50 81 39 T G 21056930 220 11 TAATACCACTGAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23476965 23476966 23476966 upstr_intron -40 -0.78 TAATACCACTGAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 1253 576 0.991859447910523 0.997721473835974 0.994790460873248 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.049650770587999 0.230125723790921 0.984794498528876 0.854902213683788 NA 0.13988824718946 NA FALSE NA 0.001 0.67 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:23476966 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 intron_variant 0.129424 0.13415 0.00751 0.156188 0.63237112382339 0.046875 0.000146775088539085 FALSE 4.0994e-05 ENSE00001137258_002 ENSE00001137258 002 18 21056920 21057089 + 50 81 39 T A 21056930 221 11 TAATACCACTAAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23476965 23476966 23476966 upstr_intron -40 -0.78 TAATACCACTAAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant 28 40 0.998711095581332 0.998935226542803 0.998823161062067 1760 945 0.93652560274966 0.994266728585623 0.965396165667642 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 0.00879199978582412 0.0192653252805584 -0.00568307457286421 0.226670978540571 0.984794498528876 0.854902213683788 0.0140286625331912 0.110493951983853 0.0964652894506621 FALSE FALSE 0.001 0.67 NA NA NA RIOK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RIOK3 NA NA NA ENSG00000101782 ENSE00003604813 intron_variant 0.271791 0.13287 0.02129 0.156188 0.675571598643663 0.046875 0.000146775088539085 FALSE 8.1988e-06 ENSE00001137258_004 ENSE00001137258 004 18 21056920 21057089 + 50 81 39 G A 21056953 223 34 TAATACCACTTAATTATTCATTTCCTAATGTGTACCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23476988 23476989 23476989 upstr_intron -17 -0.32 TAATACCACTTAATTATTCATTTCCTAATGTGTACCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 50 457 1 0.981219998471748 0.990609999235874 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.057791322677476 0.213624248426695 0.984794498528876 0.854902213683788 NA 0.135707785552086 NA FALSE NA 0.002 0.626 . intron_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 4/5 1 NA TGC G,A 1.647e-05 18:23476989 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 intron_variant 0.204339 0.24297 0.05273 0.295142 0.575780856033453 0.0716296 0.000146775088539085 FALSE 1.62624e-05 ENSE00001137258_006 ENSE00001137258 006 18 21056920 21057089 + 50 81 39 C T 21056962 225 43 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTTTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23476997 23476998 23476998 upstr_intron -8 -0.14 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTTTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 920 400 0.99247275147479 0.997770467254704 0.995121609364747 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.050264074152266 0.230174717209651 0.984794498528876 0.854902213683788 NA 0.140219395680959 NA FALSE NA 0 -0.412 . splice_region_variant&intron_variant&NMD_transcript_variant LOW RIOK3 HGNC 11451 ENST00000584130 4/5 1 NA TCT C,T 8.236e-06 18:23476998 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 splice_region_variant 0.629302 0.21831 0.0263 0.295142 0.538532179989348 0.0978179 0.000146775088539085 FALSE 4.06299e-06 ENSE00001137258_007 ENSE00001137258 007 18 21056920 21057089 + 50 81 39 C T 21056976 226 57 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGTGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477011 23477012 23477012 exon 7 0.0864197530864197 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGTGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 1729 949 0.997917859122651 0.986153226770741 0.992035542946696 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.0557091818001271 0.218557476725689 0.984794498528876 0.854902213683788 NA 0.137133329262908 NA FALSE NA 1 4.716 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/6 rs560105020 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 GCG C,T 0.0006507 18:23477012 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 missense_variant 7.007099 0.9912 0.98001 0.732398 0.998760457332003 0 0.000146775088539085 FALSE 0.000528155 ENSE00001137258_008 ENSE00001137258 008 18 21056920 21057089 + 50 81 39 G A 21056977 227 58 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCAGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477012 23477013 23477013 exon 8 0.0987654320987654 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCAGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 1793 387 0.993154167521097 0.993974979874249 0.993564573697673 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.0509454901985731 0.226379229829197 0.984794498528876 0.854902213683788 NA 0.138662360013885 NA FALSE NA 1 6.137 rs111330062 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/6 rs111330062&COSM473680 1 NA A:0.0002 A:0.0001 CGG G,A 8.236e-06 18:23477013 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 missense_variant 2.446084 0.97284 0.55124 0.732398 0.937861700742183 0 0.000146775088539085 FALSE 1.21864e-05 ENSE00001137258_009 ENSE00001137258 009 18 21056920 21057089 + 50 81 39 A G 21056980 228 61 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCGGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477015 23477016 23477016 exon 11 0.135802469135802 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCGGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 1545 1480 0.995291067982442 0.906947031086386 0.951119049534414 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.0530823906599179 0.139351281041334 0.984794498528876 0.854902213683788 NA 0.0962168358506258 NA FALSE NA 1 3.473 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/6 1 NA CAG A,G 8.236e-06 18:23477016 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 missense_variant 1.581957 0.97325 0.93508 0.732398 0.966917354561606 0 0.000146775088539085 FALSE 1.21862e-05 ENSE00001137258_011 ENSE00001137258 011 18 21056920 21057089 + 50 81 39 G A 21056999 230 80 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACACTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477034 23477035 23477035 exon 30 0.37037037037037 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACACTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 1688 321 0.980556955066365 0.97953670809164 0.980046831579003 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.0383482777438405 0.211940958046588 0.984794498528876 0.854902213683788 NA 0.125144617895214 NA FALSE NA 0 -2.735 rs139893641 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/6 rs139893641 1 NA A:0.0002 A:0 CGC G,A 1.647e-05 18:23477035 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 synonymous_variant 1.815928 0.29212 0.05849 0.732398 0.561798505530163 0 0.000146775088539085 FALSE 2.43726e-05 ENSE00001137258_013 ENSE00001137258 013 18 21056920 21057089 + 50 81 39 C G 21057015 232 96 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACGTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477050 23477051 23477051 exon -36 0.567901234567901 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACGTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 1505 639 0.957935322651281 0.984228914182562 0.971082118416921 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.0157266453287571 0.216633164137509 0.984794498528876 0.854902213683788 NA 0.116179904733133 NA FALSE NA 1 4.956 rs143494181 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/6 rs143494181 1 NA G:0 G:0.0001 CCT C,G 1.647e-05 18:23477051 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 missense_variant 6.393198 0.98896 0.9851 0.706548 0.998644751339707 0 0.000146775088539085 FALSE 1.62481e-05 ENSE00001137258_015 ENSE00001137258 015 18 21056920 21057089 + 50 81 39 A C 21057022 234 103 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGCGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477057 23477058 23477058 exon -29 0.654320987654321 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGCGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant 92 177 0.85 0.887983714190089 0.868991857095044 2531 1466 0.964351717470721 0.886358068341776 0.925354892906249 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 -0.139919095795508 -0.0916861870721561 0.0221430401481972 0.118762318296723 0.984794498528876 0.854902213683788 -0.115802641433832 0.0704526792224603 0.186255320656292 FALSE FALSE 1 9.335 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/6 1 NA GAG A,C 1.647e-05 18:23477058 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 missense_variant 6.571111 0.9934 0.99512 0.706548 0.996912750824682 0 0.000146775088539085 FALSE 4.06187e-06 ENSE00001137258_016 ENSE00001137258 016 18 21056920 21057089 + 50 81 39 G C 21057045 235 126 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTCGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477080 23477081 23477081 exon -6 0.938271604938272 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTCGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 1160 607 0.949644517505108 0.993738416090119 0.971691466797614 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.00743584018258425 0.226142666045067 0.984794498528876 0.854902213683788 NA 0.116789253113825 NA FALSE NA 1 6.638 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/6 1 NA TGG G,C 8.236e-06 18:23477081 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 missense_variant 3.422473 0.99207 0.98883 0.706548 0.993965735776186 0 0.000146775088539085 FALSE 4.0622e-06 ENSE00001137258_017 ENSE00001137258 017 18 21056920 21057089 + 50 81 39 G A 21057046 236 127 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGAAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477081 23477082 23477082 exon -5 0.950617283950617 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGAAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 1033 133 0.995329152864763 1 0.997664576432381 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.0531204755422391 0.232404249954948 0.984794498528876 0.854902213683788 NA 0.142762362748593 NA FALSE NA 1 9.864 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/6 1 NA GGA G,A 8.236e-06 18:23477082 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 missense_variant 3.101461 0.99512 0.99525 0.706548 0.988925600037572 0 0.000146775088539085 FALSE 4.0621e-06 ENSE00001137258_018 ENSE00001137258 018 18 21056920 21057089 + 50 81 39 G C 21057051 237 132 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGCTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 23477086 23477087 23477087 downstr_intron 1 1.02631578947368 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGCTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant 315 67 0 0 0 151 1122 0 0.0173592895075745 0.00867964475378726 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 -0.989919095795508 -0.979669901262245 -0.942208677322524 -0.750236460537478 0.984794498528876 0.854902213683788 -0.984794498528876 -0.846222568930001 0.138571929598875 TRUE TRUE 1 9.864 . splice_donor_variant&NMD_transcript_variant HIGH RIOK3 HGNC 11451 ENST00000584130 5/5 rs368871775 1 NA C:0.0002 C:0 GGT G,C 1.647e-05 18:23477087 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 splice_donor_variant 5.791789 0.99524 0.99612 0.295142 0.995463644377864 0.989797 0.000146775088539085 FALSE 4.0621e-06 ENSE00001137258_019 ENSE00001137258 019 18 21056920 21057089 + 50 81 39 G A 21057078 238 159 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAAATTTAATTACT 23476955 23477125 23477113 23477114 23477114 downstr_intron 28 1.73684210526316 TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAAATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT mutant NA NA NA NA NA 830 486 0.996413026815243 0.999348609560882 0.997880818188062 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 NA NA 0.0542043494927186 0.231752859515829 0.984794498528876 0.854902213683788 NA 0.142978604504274 NA FALSE NA 0 -1.87 . intron_variant&NMD_transcript_variant MODIFIER RIOK3 HGNC 11451 ENST00000584130 5/5 rs372428609 1 NA A:0 A:0.0001 AGA G,A 1.647e-05 18:23477114 RIOK3 HGNC Symbol protein_coding 33780 ENSG00000101782 ENSE00003604813 non_coding_transcript_exon_variant 0.236019 0.21061 0.02086 0.295142 0.604202554655014 0.0495094 0.000146775088539085 FALSE 1.2185e-05 ENSE00001137258_BRK ENSE00001137258 BRK 18 21056920 21057089 + 50 81 39 A,G; T,T NA NA NA TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACTTTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGCCGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT 23476955 23477125 NA NA NA NA NA NA TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACTTTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGCCGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT TAATACCACTTAATTATTCATTTCCTAATGTGTGCCTTCCCTCTTCACAGTTGATGCGGCAGTTATATCATGAATGTACGCTTGTCCATGCTGACCTCAGTGAGTATAACATGCTGTGGCATGCTGGAAAGGTGAGGAGCACATTTTGTTAACATTCAGATTTAATTACT control 30 17 0 0 0 1132 1020 0.0498598180180407 0.178043920334611 0.113951869176326 0.989919095795508 0.979669901262245 0.942208677322524 0.767595750045052 -0.989919095795508 -0.979669901262245 -0.892348859304483 -0.589551829710441 0.984794498528876 0.854902213683788 -0.984794498528876 -0.740950344507462 0.243844154021414 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003604813 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001138910_000 ENSE00001138910 000 19 14673272 14673441 + 65 51 54 NA NA NA NA NA TGGGGTCCCGGGCCCAGTGCCCTTGGCCCAGTGCAGCCCACGCCCCAGTCCTACCTTGTCCAAGAAACACAGCTTCTCCCTTGTCTTTGCGTCCAGAATCTCCACCTCGAAGAAGAGAACAGCCTTTTTAGGTTTCTTGGCCACCTTTGGGGGTGTGGGCCTGGGGAGCC 14562459 14562629 NA NA NA NA NA NA GGCTCCCCAGGCCCACACCCCCAAAGGTGGCCAAGAAACCTAAAAAGGCTGTTCTCTTCTTCGAGGTGGAGATTCTGGACGCAAAGACAAGGGAGAAGCTGTGTTTCTTGGACAAGGTAGGACTGGGGCGTGGGCTGCACTGGGCCAAGGGCACTGGGCCCGGGACCCCA GGCTCCCCAGGCCCACACCCCCAAAGGTGGCCAAGAAACCTAAAAAGGCTGTTCTCTTCTTCGAGGTGGAGATTCTGGACGCAAAGACAAGGGAGAAGCTGTGTTTCTTGGACAAGGTAGGACTGGGGCGTGGGCTGCACTGGGCCAAGGGCACTGGGCCCGGGACCCCA natural NA NA NA NA NA 16 1302 1 0.991599648244875 0.995799824122438 NA NA 1 0.991599648244875 NA NA 0 0 NA 0.995799824122438 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003537601 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00001138910_BRK ENSE00001138910 BRK 19 14673272 14673441 + 65 51 54 A,G; T,T NA NA NA TGGGGTCCCGGGCCCAGTGCCCTTGGCCCAGTGCAGCCCACGCCCCAGTCCTGGCTTGTCCAAGAAACACAGCTTCTCCCTTGTCTTTGCGTCCAGAATCTCCACAACGAAGAAGAGAACAGCCTTTTTAGGTTTCTTGGCCACCTTTGGGGGTGTGGGCCTGGGGAGCC 14562459 14562629 NA NA NA NA NA NA GGCTCCCCAGGCCCACACCCCCAAAGGTGGCCAAGAAACCTAAAAAGGCTGTTCTCTTCTTCGTTGTGGAGATTCTGGACGCAAAGACAAGGGAGAAGCTGTGTTTCTTGGACAAGCCAGGACTGGGGCGTGGGCTGCACTGGGCCAAGGGCACTGGGCCCGGGACCCCA GGCTCCCCAGGCCCACACCCCCAAAGGTGGCCAAGAAACCTAAAAAGGCTGTTCTCTTCTTCGAGGTGGAGATTCTGGACGCAAAGACAAGGGAGAAGCTGTGTTTCTTGGACAAGGTAGGACTGGGGCGTGGGCTGCACTGGGCCAAGGGCACTGGGCCCGGGACCCCA control 21 23 0 0 0 NA NA NA NA NA NA NA 1 0.991599648244875 NA NA NA NA NA 0.995799824122438 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003537601 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00001139127_000 ENSE00001139127 000 8 86178795 86178964 + 42 96 32 NA NA NA NA NA TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 NA NA NA NA NA NA TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC natural 70 65 0.984313872831075 0.989454340266381 0.986884106548728 11511 9774 0.961451327448298 0.959672637032233 0.960561982240266 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 0 0 0 0 0.986884106548728 0.960561982240266 0 0 0 FALSE FALSE NA NA NA NA NA CA13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA13 NA NA NA ENSG00000185015 ENSE00003656212 NA NA NA NA NA NA NA 0.000339444426113696 FALSE NA ENSE00001139127_001 ENSE00001139127 001 8 86178795 86178964 + 42 96 32 G A 86178817 1509 23 TCTAACAAAACATTCCTACTATATTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266587 85266588 85266588 upstr_intron -20 -0.452380952380952 TCTAACAAAACATTCCTACTATATTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 1290 861 0.999167586154093 0.999143396598076 0.999155491376084 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0377162587057946 0.0394707595658425 0.986884106548728 0.960561982240266 NA 0.0385935091358185 NA FALSE NA 0 -0.039 . intron_variant MODIFIER CA13 HGNC 14914 ENST00000321764 3/6 rs368515395 1 NA A:0 A:0.0001 TGT G,A 5.765e-05 8:85266588 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 intron_variant 0.039275 0.18758 0.01263 0.074636 0.386857078575756 0.0647611 0.000339444426113696 FALSE 6.6968e-05 ENSE00001139127_002 ENSE00001139127 002 8 86178795 86178964 + 42 96 32 A G 86178822 1510 28 TCTAACAAAACATTCCTACTATGTTGTGTATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266592 85266593 85266593 upstr_intron -15 -0.333333333333333 TCTAACAAAACATTCCTACTATGTTGTGTATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 834 337 0.9951915063562 0.983016409407954 0.989103957882077 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0337401789079018 0.0233437723757208 0.986884106548728 0.960561982240266 NA 0.0285419756418113 NA FALSE NA 0.011 -0.13 . intron_variant MODIFIER CA13 HGNC 14914 ENST00000321764 3/6 1 NA TAT A,G 1.647e-05 8:85266593 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 intron_variant 0.057422 0.15784 0.00414 0.074636 0.676802478045204 0.112627 0.000339444426113696 FALSE 8.22226e-06 ENSE00001139127_003 ENSE00001139127 003 8 86178795 86178964 + 42 96 32 A G 86178824 1511 30 TCTAACAAAACATTCCTACTATGTTGTATGTCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266594 85266595 85266595 upstr_intron -13 -0.285714285714286 TCTAACAAAACATTCCTACTATGTTGTATGTCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 505 2359 0.999836902544047 0.992904956226156 0.996370929385102 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0383855750957491 0.0332323191939233 0.986884106548728 0.960561982240266 NA 0.0358089471448362 NA FALSE NA 0 -1.72 . intron_variant MODIFIER CA13 HGNC 14914 ENST00000321764 3/6 1 NA TAT A,G 0.0001647 8:85266595 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 intron_variant 0.342551 0.17036 0.01264 0.074636 0.594650683110899 0.16862 0.000339444426113696 FALSE 9.43923e-05 ENSE00001139127_004 ENSE00001139127 004 8 86178795 86178964 + 42 96 32 T G 86178844 1512 50 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGGTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266614 85266615 85266615 exon 8 0.0833333333333333 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGGTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 1728 257 0.996978569380689 1 0.998489284690344 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0355272419323907 0.0403273629677668 0.986884106548728 0.960561982240266 NA 0.0379273024500787 NA FALSE NA 1 6.956 . missense_variant MODERATE CA13 HGNC 14914 ENST00000321764 4/7 1 deleterious(0) possibly_damaging(0.904) NA GTT T,G 8.236e-06 8:85266615 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 missense_variant 6.311131 0.99153 0.96466 0.638212 0.995932226882655 0 0.000339444426113696 FALSE 4.06547e-06 ENSE00001139127_005 ENSE00001139127 005 8 86178795 86178964 + 42 96 32 T C 86178848 1513 54 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTCCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266618 85266619 85266619 exon 12 0.125 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTCCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 785 1748 0.977041797455471 0.970607940708175 0.973824869081823 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0155904700071728 0.0109353036759416 0.986884106548728 0.960561982240266 NA 0.0132628868415572 NA FALSE NA 0.433 -0.425 . synonymous_variant LOW CA13 HGNC 14914 ENST00000321764 4/7 1 NA TTC T,C 8.236e-06 8:85266619 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 synonymous_variant 0.445454 0.94777 0.30397 0.638212 0.653892656357454 0 0.000339444426113696 FALSE 4.06418e-06 ENSE00001139127_006 ENSE00001139127 006 8 86178795 86178964 + 42 96 32 C G 86178863 1514 69 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGAGAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266633 85266634 85266634 exon 27 0.28125 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGAGAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 1111 1140 0.997488104928095 0.985341385161141 0.991414745044618 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0360367774797976 0.0256687481289074 0.986884106548728 0.960561982240266 NA 0.0308527628043525 NA FALSE NA 0.964 0.79 . missense_variant MODERATE CA13 HGNC 14914 ENST00000321764 4/7 1 tolerated(1) benign(0) NA ACA C,G 8.236e-06 8:85266634 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 missense_variant 1.000604 0.97452 0.77963 0.553676 0.407853164248487 0 0.000339444426113696 FALSE 4.06342e-06 ENSE00001139127_007 ENSE00001139127 007 8 86178795 86178964 + 42 96 32 C A 86178886 1515 92 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGAAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266656 85266657 85266657 exon -47 0.520833333333333 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGAAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 935 1924 0.998359992821316 0.997976854946446 0.998168423883881 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0369086653730178 0.038304217914213 0.986884106548728 0.960561982240266 NA 0.0376064416436154 NA FALSE NA 1 6.766 . missense_variant MODERATE CA13 HGNC 14914 ENST00000321764 4/7 1 deleterious(0) probably_damaging(0.993) NA GCA C,A 8.236e-06 8:85266657 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 missense_variant 7.292115 0.99369 0.96901 0.553676 0.994013749543146 0 0.000339444426113696 FALSE 1.6253e-05 ENSE00001139127_008 ENSE00001139127 008 8 86178795 86178964 + 42 96 32 A G 86178896 1516 102 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAGCCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266666 85266667 85266667 exon -37 0.625 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAGCCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 576 1738 0.99426452891064 0.995572249752393 0.994918389331517 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0328132014623422 0.03589961272016 0.986884106548728 0.960561982240266 NA 0.0343564070912511 NA FALSE NA 1 2.509 . synonymous_variant LOW CA13 HGNC 14914 ENST00000321764 4/7 1 NA AAC A,G 1.647e-05 8:85266667 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 synonymous_variant 0.86507 0.96249 0.11745 0.553676 0.574194305202669 0 0.000339444426113696 FALSE 8.12684e-06 ENSE00001139127_010 ENSE00001139127 010 8 86178795 86178964 + 42 96 32 G C 86178932 1518 138 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACACGTGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266702 85266703 85266703 exon -1 1 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACACGTGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 1832 434 0.0220096796686852 0 0.0110048398343426 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA -0.939441647779613 -0.959672637032233 0.986884106548728 0.960561982240266 NA -0.949557142405923 NA TRUE NA 1 5.52 . missense_variant&splice_region_variant MODERATE CA13 HGNC 14914 ENST00000321764 4/7 1 deleterious(0) benign(0.375) NA AGG G,C 8.237e-06 8:85266703 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 missense_variant 4.155273 0.98948 0.95389 0.553676 0.997115760601546 0 0.000339444426113696 FALSE 4.07219e-06 ENSE00001139127_011 ENSE00001139127 011 8 86178795 86178964 + 42 96 32 G A 86178935 1519 141 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTAAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266705 85266706 85266706 downstr_intron 3 1.09677419354839 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTAAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 914 1056 0.94504090244517 1 0.972520451222585 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA -0.0164104250031282 0.0403273629677668 0.986884106548728 0.960561982240266 NA 0.0119584689823193 NA FALSE NA 0.987 0.168 . splice_region_variant&intron_variant LOW CA13 HGNC 14914 ENST00000321764 4/6 1 NA TGA G,A 1.647e-05 8:85266706 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 splice_region_variant 1.34269 0.94322 0.51719 0.061011 0.620741822156899 0.529607 0.000339444426113696 FALSE 1.22195e-05 ENSE00001139127_012 ENSE00001139127 012 8 86178795 86178964 + 42 96 32 A G 86178939 1520 145 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAGTCTACTGTTTTCATTTTAAATGATC 85266565 85266735 85266709 85266710 85266710 downstr_intron 7 1.2258064516129 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAGTCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 745 758 0.947759807834822 0.999791299145905 0.973775553490364 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA -0.0136915196134759 0.0401186621136722 0.986884106548728 0.960561982240266 NA 0.0132135712500981 NA FALSE NA 0 -0.277 . splice_region_variant&intron_variant LOW CA13 HGNC 14914 ENST00000321764 4/6 rs371902696 1 NA G:0 G:0.0001 AAT A,G 1.647e-05 8:85266710 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 splice_region_variant 0.731803 0.32021 0.089 0.061011 0.596944346993843 0.166745 0.000339444426113696 FALSE 1.22422e-05 ENSE00001139127_013 ENSE00001139127 013 8 86178795 86178964 + 42 96 32 T C 86178945 1521 151 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACCGTTTTCATTTTAAATGATC 85266565 85266735 85266715 85266716 85266716 downstr_intron 13 1.41935483870968 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACCGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 2506 1645 0.963864825843361 0.998053639574219 0.98095923270879 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.00241349839506355 0.0383810025419854 0.986884106548728 0.960561982240266 NA 0.0203972504685245 NA FALSE NA 0 1.638 . intron_variant MODIFIER CA13 HGNC 14914 ENST00000321764 4/6 1 NA CTG T,C 8.237e-06 8:85266716 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 intron_variant 0.188318 0.20848 0.0832 0.061011 0.566310859824643 0.0937141 0.000339444426113696 FALSE 4.0997e-06 ENSE00001139127_014 ENSE00001139127 014 8 86178795 86178964 + 42 96 32 T C 86178947 1522 153 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGCTTTCATTTTAAATGATC 85266565 85266735 85266717 85266718 85266718 downstr_intron 15 1.48387096774194 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGCTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 2901 746 0.953982523499136 0.998031532980765 0.97600702823995 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA -0.00746880394916194 0.0383588959485317 0.986884106548728 0.960561982240266 NA 0.0154450459996849 NA FALSE NA 0 -0.786 . intron_variant MODIFIER CA13 HGNC 14914 ENST00000321764 4/6 1 NA GTT T,C 8.237e-06 8:85266718 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 intron_variant -0.057988 0.2231 0.02516 0.061011 0.590595964619482 0.0937141 0.000339444426113696 FALSE 8.22524e-06 ENSE00001139127_015 ENSE00001139127 015 8 86178795 86178964 + 42 96 32 C G 86178951 1523 157 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTGATTTTAAATGATC 85266565 85266735 85266721 85266722 85266722 downstr_intron 19 1.61290322580645 TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTGATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC mutant NA NA NA NA NA 1306 903 0.998824561011996 0.952073377039284 0.97544896902564 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA 0.0373732335636978 -0.00759925999294875 0.986884106548728 0.960561982240266 NA 0.0148869867853745 NA FALSE NA 0 0.105 . intron_variant MODIFIER CA13 HGNC 14914 ENST00000321764 4/6 1 NA TCA C,G 8.237e-06 8:85266722 CA13 HGNC Symbol protein_coding 63486 ENSG00000185015 ENSE00003656212 intron_variant 0.100847 0.24339 0.10765 0.061011 0.480231995818827 0.0937141 0.000339444426113696 FALSE 8.20775e-06 ENSE00001139127_BRK ENSE00001139127 BRK 8 86178795 86178964 + 42 96 32 A,G; T,T NA NA NA TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCTTCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGCCGAGAATCTACTGTTTTCATTTTAAATGATC 85266565 85266735 NA NA NA NA NA NA TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCTTCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGCCGAGAATCTACTGTTTTCATTTTAAATGATC TCTAACAAAACATTCCTACTATGTTGTATATCTCCCTTTCAGCTCCATGTTGTTCACTGGAATTCAGACAAATACCCCAGCTTTGTTGAGGCAGCTCATGAACCAGATGGACTGGCTGTCTTGGGAGTGTTTTTACAGGTGAGAATCTACTGTTTTCATTTTAAATGATC control NA NA NA NA NA 252 877 0.0557780400588023 0.00404032798620362 0.029909184022503 0.984313872831075 0.989454340266381 0.961451327448298 0.959672637032233 NA NA -0.905673287389495 -0.95563230904603 0.986884106548728 0.960561982240266 NA -0.930652798217763 NA TRUE NA NA NA NA NA NA CA13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA13 NA NA NA ENSG00000185015 ENSE00003656212 NA NA NA NA NA NA NA 0.000339444426113696 FALSE NA ENSE00001139486_000 ENSE00001139486 000 1 55548912 55549081 - 33 93 44 NA NA NA NA NA TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 NA NA NA NA NA NA TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG natural 88 50 0.973971142388693 0.946900741291723 0.960435941840208 6481 5709 0.983013440446815 0.920728421752945 0.95187093109988 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 0 0 0 0 0.960435941840208 0.95187093109988 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP24 NA NA NA ENSG00000162402 ENSE00003571309 NA NA NA NA NA NA NA 0.999999998496473 TRUE NA ENSE00001139486_001 ENSE00001139486 001 1 55548912 55549081 - 33 93 44 G C 55548924 1972 158 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCGCTAGTGGAATAG 55083238 55083408 55083250 55083251 55083251 downstr_intron 21 1.65625 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCGCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 1442 1346 0.999255611012772 0.998713714236895 0.998984662624834 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0162421705659579 0.07798529248395 0.960435941840208 0.95187093109988 NA 0.047113731524954 NA FALSE NA 0.001 0.407 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:55083251 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 intron_variant -0.125692 0.31072 0.19126 0.295142 0.49144212291025 0.0365257 0.999999998496473 TRUE 4.09018e-06 ENSE00001139486_002 ENSE00001139486 002 1 55548912 55549081 - 33 93 44 G A 55548924 1973 158 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCTCTAGTGGAATAG 55083238 55083408 55083250 55083251 55083251 downstr_intron 21 1.65625 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCTCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 2089 829 0.997148364777195 0.872237720998389 0.934693042887792 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0141349243303808 -0.0484907007545557 0.960435941840208 0.95187093109988 NA -0.0171778882120875 NA FALSE NA 0.001 0.407 NA NA NA USP24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP24 NA NA NA ENSG00000162402 ENSE00003571309 intron_variant 0.279666 0.27779 0.07433 0.295142 0.650293392031644 0.0365257 0.999999998496473 TRUE 4.09018e-06 ENSE00001139486_003 ENSE00001139486 003 1 55548912 55549081 - 33 93 44 A G 55548932 1974 150 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTCTTATATCCCTAGTGGAATAG 55083238 55083408 55083258 55083259 55083259 downstr_intron 13 1.40625 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTCTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 928 1488 0.999955645368678 0.999692499186377 0.999824072277528 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0169422049218638 0.0789640774334323 0.960435941840208 0.95187093109988 NA 0.047953141177648 NA FALSE NA 0 -1.092 . intron_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/3 1 NA AAA A,G 6.62e-05 1:55083259 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 intron_variant -0.039431 0.15786 0.02299 0.295142 0.399358239847905 0.0365257 0.999999998496473 TRUE 0.000171212 ENSE00001139486_004 ENSE00001139486 004 1 55548912 55549081 - 33 93 44 G T 55548934 1975 148 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTAATTTTATATCCCTAGTGGAATAG 55083238 55083408 55083260 55083261 55083261 downstr_intron 11 1.34375 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTAATTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 2090 1923 0.974716984674747 0.982279476392138 0.978498230533443 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA -0.00829645577206728 0.0615510546391936 0.960435941840208 0.95187093109988 NA 0.0266272994335632 NA FALSE NA 0 -0.346 rs138995515 intron_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/3 rs138995515 1 T:0.0020 T:0 T:0 NA T:0.0099 T:0 T:0 AGT G,T 0.001067 1:55083261 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 intron_variant -0.091007 0.27441 0.02703 0.295142 0.385966325443422 0.0365257 0.999999998496473 TRUE 0.000990648 ENSE00001139486_005 ENSE00001139486 005 1 55548912 55549081 - 33 93 44 C T 55548940 1976 142 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAAGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083266 55083267 55083267 downstr_intron 5 1.15625 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAAGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 291 1968 1 0.980421861906886 0.990210930953443 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0169865595531854 0.0596934401539415 0.960435941840208 0.95187093109988 NA 0.0383399998535635 NA FALSE NA 0 -3.248 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW USP24 HGNC 12623 ENST00000472566 3/3 1 NA CCT C,T 8.275e-06 1:55083267 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 splice_region_variant 0.18555 0.14635 0.02553 0.295142 0.525400064300164 0.271637 0.999999998496473 TRUE 4.07305e-06 ENSE00001139486_006 ENSE00001139486 006 1 55548912 55549081 - 33 93 44 T C 55548941 1977 141 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAGGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083267 55083268 55083268 downstr_intron 4 1.125 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAGGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 239 373 0.184956550854245 0.194651796707519 0.189804173780882 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA -0.79805688959257 -0.726076625045425 0.960435941840208 0.95187093109988 NA -0.762066757318998 NA TRUE NA 0.022 -0.005 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW USP24 HGNC 12623 ENST00000472566 3/3 1 NA CTT T,C 8.275e-06 1:55083268 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 splice_region_variant 0.277145 0.29246 0.05011 0.295142 0.526934955032581 0.288345 0.999999998496473 TRUE 8.14306e-06 ENSE00001139486_007 ENSE00001139486 007 1 55548912 55549081 - 33 93 44 C T 55548945 1978 137 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAAGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083271 55083272 55083272 exon -1 1 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAAGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant 73 125 0 0 0 2514 768 0.0164190293895894 0.101820277906781 0.0591196536481853 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 -0.973971142388693 -0.946900741291723 -0.966594411057225 -0.818908143846163 0.960435941840208 0.95187093109988 -0.960435941840208 -0.892751277451694 0.0676846643885139 TRUE TRUE 1 6.618 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW USP24 HGNC 12623 ENST00000472566 3/4 rs367791360&COSM4009018&COSM4009017 1 NA T:0.0003 T:0 CCT C,T 8.274e-06 1:55083272 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 splice_region_variant 1.186138 0.99375 0.98805 0.732398 0.897749299043835 0 0.999999998496473 TRUE 4.07087e-06 ENSE00001139486_008 ENSE00001139486 008 1 55548912 55549081 - 33 93 44 T C 55548949 1979 133 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAGTCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083275 55083276 55083276 exon -5 0.956989247311828 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAGTCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 194 1412 1 1 1 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0169865595531854 0.0792715782470553 0.960435941840208 0.95187093109988 NA 0.0481290689001204 NA FALSE NA 0.888 0.433 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 rs201823082 1 NA C:0.0003 C:0 ATT T,C 1.655e-05 1:55083276 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant -0.98546 0.94473 0.73201 0.732398 0.234357920198541 0 0.999999998496473 TRUE 8.13968e-06 ENSE00001139486_009 ENSE00001139486 009 1 55548912 55549081 - 33 93 44 G A 55548959 1980 123 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTTGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083285 55083286 55083286 exon -15 0.849462365591398 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTTGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 891 583 0.990023149961451 0.870939218658718 0.930481184310084 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.00700970951463598 -0.0497892030942265 0.960435941840208 0.95187093109988 NA -0.0213897467897953 NA FALSE NA 0.998 2.624 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA CGA G,A 8.273e-06 1:55083286 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 6.58509 0.97263 0.93431 0.732398 0.998942312392525 0 0.999999998496473 TRUE NA ENSE00001139486_010 ENSE00001139486 010 1 55548912 55549081 - 33 93 44 C T 55548968 1981 114 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAAGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083294 55083295 55083295 exon -24 0.752688172043011 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAAGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant 21 16 1 1 1 1007 1017 0.997971735692271 0.999925123825889 0.99894842975908 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 0.0260288576113066 0.0530992587082768 0.0149582952454567 0.0791967020729448 0.960435941840208 0.95187093109988 0.0395640581597917 0.0470774986592007 0.00751344049940905 FALSE FALSE 1 6.618 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA CCT C,T 8.272e-06 1:55083295 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 5.086065 0.99375 0.98805 0.732398 0.98395334939593 0 0.999999998496473 TRUE 4.06881e-06 ENSE00001139486_011 ENSE00001139486 011 1 55548912 55549081 - 33 93 44 T A 55548969 1982 113 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTTGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083295 55083296 55083296 exon -25 0.741935483870968 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTTGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 219 1170 1 0.834466257844996 0.917233128922498 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0169865595531854 -0.0862621639079487 0.960435941840208 0.95187093109988 NA -0.0346378021773817 NA FALSE NA 0 -3.49 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 rs542046810 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CTA T,A 8.272e-06 1:55083296 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 synonymous_variant 0.013504 0.11941 0.01724 0.732398 0.544448854637604 0 0.999999998496473 TRUE 4.06904e-06 ENSE00001139486_012 ENSE00001139486 012 1 55548912 55549081 - 33 93 44 G C 55548972 1983 110 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTGCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083298 55083299 55083299 exon -28 0.709677419354839 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTGCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 301 1382 0.998762959696489 1 0.999381479848245 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0157495192496744 0.0792715782470553 0.960435941840208 0.95187093109988 NA 0.0475105487483649 NA FALSE NA 1 1.573 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA GGA G,C 8.272e-06 1:55083299 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 synonymous_variant 0.417238 0.96823 0.88909 0.732398 0.616166580888662 0 0.999999998496473 TRUE 4.06901e-06 ENSE00001139486_013 ENSE00001139486 013 1 55548912 55549081 - 33 93 44 G A 55548987 1984 95 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCATATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083313 55083314 55083314 exon -43 0.548387096774194 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCATATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 582 111 0.997136779804386 0.998572520114437 0.997854649959411 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0141233393575715 0.077844098361492 0.960435941840208 0.95187093109988 NA 0.0459837188595317 NA FALSE NA 1 1.877 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 rs374041079 1 NA A:0.0005 A:0 TGT G,A 2.481e-05 1:55083314 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 synonymous_variant 0.938396 0.98393 0.91057 0.732398 0.472222102314036 0 0.999999998496473 TRUE 1.22068e-05 ENSE00001139486_015 ENSE00001139486 015 1 55548912 55549081 - 33 93 44 G A 55548992 1986 90 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGTGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083318 55083319 55083319 exon 46 0.494623655913978 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGTGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 964 651 0.998885387168649 0.993624327610921 0.996254857389785 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0158719467218346 0.072895905857976 0.960435941840208 0.95187093109988 NA 0.0443839262899053 NA FALSE NA 0.613 1.131 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 rs371621780 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 A:0 A:0.0001 CGC G,A 5.79e-05 1:55083319 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 4.632619 0.85613 0.6132 0.732398 0.998057164129493 0 0.999999998496473 TRUE 2.84826e-05 ENSE00001139486_017 ENSE00001139486 017 1 55548912 55549081 - 33 93 44 G A 55548997 1988 85 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGTTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083323 55083324 55083324 exon 41 0.440860215053763 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGTTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 827 827 0.993673428248232 0.99870099848153 0.996187213364881 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0106599878014176 0.0779725767285857 0.960435941840208 0.95187093109988 NA 0.0443162822650017 NA FALSE NA 1 8.348 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 rs541294636 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGC G,A 1.654e-05 1:55083324 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 3.885433 0.99343 0.99173 0.732398 0.996105787323684 0 0.999999998496473 TRUE 1.22061e-05 ENSE00001139486_018 ENSE00001139486 018 1 55548912 55549081 - 33 93 44 A G 55549002 1989 80 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCACTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083328 55083329 55083329 exon 36 0.387096774193548 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCACTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 4999 1734 0.984441479971659 0.976696039552995 0.980568759762327 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.00142803952484427 0.0559676178000504 0.960435941840208 0.95187093109988 NA 0.0286978286624474 NA FALSE NA 0.994 0.341 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA AAT A,G 1.654e-05 1:55083329 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 synonymous_variant 0.431836 0.61461 0.26179 0.732398 0.494662671820223 0 0.999999998496473 TRUE 2.44139e-05 ENSE00001139486_019 ENSE00001139486 019 1 55548912 55549081 - 33 93 44 G A 55549004 1990 78 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGTATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083330 55083331 55083331 exon 34 0.365591397849462 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGTATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant 18 13 0.922106110182065 1 0.961053055091033 1420 699 0.877444295251266 0.992689846277681 0.935067070764473 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 -0.0518650322066281 0.0530992587082768 -0.105569145195549 0.0719614245247362 0.960435941840208 0.95187093109988 0.000617113250824364 -0.0168038603354063 0.0174209735862307 FALSE FALSE 1 6.613 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA TGC G,A 8.272e-06 1:55083331 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 1.864299 0.98891 0.97897 0.732398 0.866310825906557 0 0.999999998496473 TRUE 4.06941e-06 ENSE00001139486_020 ENSE00001139486 020 1 55548912 55549081 - 33 93 44 G A 55549013 1991 69 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTTTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083339 55083340 55083340 exon 25 0.268817204301075 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTTTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 265 961 0.97940872834001 0.998076194829136 0.988742461584573 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA -0.00360471210680469 0.0773477730761913 0.960435941840208 0.95187093109988 NA 0.0368715304846933 NA FALSE NA 1 6.336 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA AGA G,A 8.273e-06 1:55083340 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 4.925367 0.99324 0.97724 0.732398 0.998525301694156 0 0.999999998496473 TRUE 4.07e-06 ENSE00001139486_021 ENSE00001139486 021 1 55548912 55549081 - 33 93 44 A C 55549014 1992 68 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTGCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083340 55083341 55083341 exon 24 0.258064516129032 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTGCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 3507 1962 0.975200920437422 0.998131058884263 0.986665989660843 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA -0.00781252000939248 0.0774026371313183 0.960435941840208 0.95187093109988 NA 0.0347950585609629 NA FALSE NA 0.01 -1.502 rs61760216 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 rs61760216 1 C:0.0192 C:0.0703 C:0.0029 NA C:0 C:0.001 C:0 C:0.0455 C:0.0004 GAA A,C 0.005171 1:55083341 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 synonymous_variant -0.737216 0.76402 0.13344 0.732398 0.709557193833819 0 0.999999998496473 TRUE 0.00429981 ENSE00001139486_022 ENSE00001139486 022 1 55548912 55549081 - 33 93 44 A T 55549015 1993 67 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCATCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083341 55083342 55083342 exon 23 0.247311827956989 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCATCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 642 699 0.855505941074967 0.997004728883209 0.926255334979088 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA -0.127507499371848 0.0762763071302645 0.960435941840208 0.95187093109988 NA -0.0256155961207916 NA FALSE NA 1 7.743 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA AAG A,T 1.655e-05 1:55083342 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 4.38378 0.99064 0.99634 0.732398 0.940853929744244 0 0.999999998496473 TRUE 1.62808e-05 ENSE00001139486_023 ENSE00001139486 023 1 55548912 55549081 - 33 93 44 T C 55549018 1994 64 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGGTCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083344 55083345 55083345 exon 20 0.21505376344086 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGGTCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant 34 82 1 1 1 184 52 0.990709196407931 0.922914085672873 0.956811641040402 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 0.0260288576113066 0.0530992587082768 0.00769575596111638 0.00218566391992792 0.960435941840208 0.95187093109988 0.0395640581597917 0.00494070994052215 0.0346233482192695 FALSE FALSE 0.993 4.798 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA ATC T,C 8.274e-06 1:55083345 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 1.73611 0.5932 0.77815 0.732398 0.850902098955557 0 0.999999998496473 TRUE 8.14166e-06 ENSE00001139486_024 ENSE00001139486 024 1 55548912 55549081 - 33 93 44 A G 55549023 1995 59 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCCGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083349 55083350 55083350 exon 15 0.161290322580645 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCCGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 1080 44 0.998889683880444 0.99274226352378 0.995815973702112 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0158762434336295 0.0720138417708355 0.960435941840208 0.95187093109988 NA 0.0439450426022325 NA FALSE NA 0.115 -0.571 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA CAG A,G 2.482e-05 1:55083350 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 synonymous_variant -0.08873 0.20193 0.18296 0.732398 0.34228399442146 0 0.999999998496473 TRUE 1.62831e-05 ENSE00001139486_025 ENSE00001139486 025 1 55548912 55549081 - 33 93 44 C T 55549027 1996 55 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAAGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083353 55083354 55083354 exon 11 0.118279569892473 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAAGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 1809 1260 0.998686360848149 0.999592964985626 0.999139662916887 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0156729204013347 0.0788645432326809 0.960435941840208 0.95187093109988 NA 0.0472687318170078 NA FALSE NA 0.944 1.476 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 3/4 1 NA CCT C,T 8.275e-06 1:55083354 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 missense_variant 0.75179 0.94477 0.77465 0.732398 0.500602015243262 0 0.999999998496473 TRUE 4.07222e-06 ENSE00001139486_026 ENSE00001139486 026 1 55548912 55549081 - 33 93 44 C T 55549044 1997 38 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTATGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083370 55083371 55083371 upstr_intron -7 -0.136363636363636 TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTATGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 2173 635 0.99560903936952 0.99994004571624 0.99777454254288 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0125955989227052 0.0792116239632951 0.960435941840208 0.95187093109988 NA 0.0459036114430001 NA FALSE NA 0.663 0.134 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW USP24 HGNC 12623 ENST00000472566 2/3 1 NA ACA C,T 8.279e-06 1:55083371 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 splice_region_variant 0.764529 0.21096 0.16891 0.088506 0.520828479410269 0.272646 0.999999998496473 TRUE 1.22433e-05 ENSE00001139486_028 ENSE00001139486 028 1 55548912 55549081 - 33 93 44 A T 55549056 1999 26 TCTGGATAGAAATATAATTTGTTATACTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083382 55083383 55083383 upstr_intron -19 -0.409090909090909 TCTGGATAGAAATATAATTTGTTATACTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 3503 793 0.63789957967487 0.506000168088593 0.571949873881732 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA -0.345113860771944 -0.414728253664352 0.960435941840208 0.95187093109988 NA -0.379921057218148 NA FALSE NA 0.284 3.454 rs111473611 intron_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 2/3 rs111473611 1 T:0.0070 T:0.0234 T:0.0058 NA T:0 T:0 T:0 T:0.0276 T:0.0002 GAA A,T 0.002302 1:55083383 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 intron_variant 0.062748 0.76741 0.96634 0.088506 0.67593174895946 0.598684 0.999999998496473 TRUE 0.00190837 ENSE00001139486_029 ENSE00001139486 029 1 55548912 55549081 - 33 93 44 A G 55549057 2000 25 TCTGGATAGAAATATAATTTGTTACTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083383 55083384 55083384 upstr_intron -20 -0.431818181818182 TCTGGATAGAAATATAATTTGTTACTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant 25 20 1 1 1 942 173 0.997342499835428 0.999084722005236 0.998213610920332 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 0.0260288576113066 0.0530992587082768 0.0143290593886132 0.0783563002522915 0.960435941840208 0.95187093109988 0.0395640581597917 0.0463426798204523 0.00677862166066062 FALSE FALSE 0.203 1.525 . intron_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 2/3 1 NA AAT A,G 8.281e-06 1:55083384 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 intron_variant 0.072821 0.36208 0.71275 0.088506 0.669145815199698 0.106892 0.999999998496473 TRUE 4.12759e-06 ENSE00001139486_031 ENSE00001139486 031 1 55548912 55549081 - 33 93 44 A G 55549069 2002 13 TCTGGATAGAAACATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 55083395 55083396 55083396 upstr_intron -32 -0.704545454545455 TCTGGATAGAAACATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG mutant NA NA NA NA NA 711 1228 0.991142360039786 0.981824313387749 0.986483336713768 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 NA NA 0.0081289195929718 0.0610958916348048 0.960435941840208 0.95187093109988 NA 0.0346124056138883 NA FALSE NA 0 0.503 . intron_variant&non_coding_transcript_variant MODIFIER USP24 HGNC 12623 ENST00000472566 2/3 1 NA TAT A,G 2.485e-05 1:55083396 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00003571309 intron_variant 0.284692 0.2307 0.1115 0.088506 0.688137316097843 0.0898354 0.999999998496473 TRUE 1.26639e-05 ENSE00001139486_BRK ENSE00001139486 BRK 1 55548912 55549081 - 33 93 44 A,G; T,T NA NA NA TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACTTCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGCCAAGGACTACTTTTATATCCCTAGTGGAATAG 55083238 55083408 NA NA NA NA NA NA TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACTTCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGCCAAGGACTACTTTTATATCCCTAGTGGAATAG TCTGGATAGAAATATAATTTGTTATTCTCAATATCTTGTGACAGCAAGGAATTAGGGCTGGAGATCTTCTTCTGAGGCATTCAGCTCTGCGGCACATGATCAGCTTCCTCCTAGGGGCCAGTCGGCAAAACAATCAGGTAAGGACTACTTTTATATCCCTAGTGGAATAG control 84 80 0 0 0 360 114 0 0 0 0.973971142388693 0.946900741291723 0.983013440446815 0.920728421752945 -0.973971142388693 -0.946900741291723 -0.983013440446815 -0.920728421752945 0.960435941840208 0.95187093109988 -0.960435941840208 -0.95187093109988 0.00856501074032867 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003571309 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001140452_000 ENSE00001140452 000 12 57965048 57965217 + 56 69 45 NA NA NA NA NA GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAGGGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 NA NA NA NA NA NA TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC natural 18 22 0.992310120278605 0.85802803125116 0.925169075764882 983 1040 0.884432726469928 0.717185061328731 0.800808893899329 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 0 0 0 0 0.925169075764882 0.800808893899329 0 0 0 FALSE FALSE NA NA NA NA NA KIF5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF5A NA NA NA ENSG00000155980 ENSE00001140452 NA NA NA NA NA NA NA 0.999979703146806 TRUE NA ENSE00001140452_003 ENSE00001140452 003 12 57965048 57965217 + 56 69 45 G A 57965066 2256 19 GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAGGGAAGTTACTCCTTCCAGTTTAGA 57571264 57571434 57571282 57571283 57571283 upstr_intron -38 -0.660714285714286 TCTAAACTGGAAGGAGTAACTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 19 127 1 0.999699776672931 0.999849888336466 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.115567273530072 0.2825147153442 0.925169075764882 0.800808893899329 NA 0.199040994437136 NA FALSE NA 0.088 0.384 . intron_variant MODIFIER KIF5A HGNC 6323 ENST00000455537 12/28 1 NA AGC G,A 8.236e-06 12:57571283 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 intron_variant 0.040739 0.24679 0.02463 0.062308 0.629078380370465 0.0878974 0.999979703146806 TRUE 4.06342e-06 ENSE00001140452_004 ENSE00001140452 004 12 57965048 57965217 + 56 69 45 T C 57965068 2257 21 GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAGGGAGGCTACTCCTTCCAGTTTAGA 57571264 57571434 57571284 57571285 57571285 upstr_intron -36 -0.625 TCTAAACTGGAAGGAGTAGCCTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 250 308 0.997336025581146 0.997362269367873 0.99734914747451 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.112903299111219 0.280177208039141 0.925169075764882 0.800808893899329 NA 0.19654025357518 NA FALSE NA 0.105 0.623 . intron_variant MODIFIER KIF5A HGNC 6323 ENST00000455537 12/28 rs569833766 1 NA CTT T,C 1.647e-05 12:57571285 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 intron_variant 0.159396 0.27491 0.01682 0.062308 0.674506973465816 0.134913 0.999979703146806 TRUE 1.625e-05 ENSE00001140452_005 ENSE00001140452 005 12 57965048 57965217 + 56 69 45 C T 57965071 2258 24 GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAGAGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 57571287 57571288 57571288 upstr_intron -33 -0.571428571428571 TCTAAACTGGAAGGAGTAGCTTCTCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 618 662 0.996278899088339 0.998197731572909 0.997238315330624 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.111846172618412 0.281012670244178 0.925169075764882 0.800808893899329 NA 0.196429421431295 NA FALSE NA 0.013 -0.021 . intron_variant MODIFIER KIF5A HGNC 6323 ENST00000455537 12/28 1 NA CCC C,T 1.647e-05 12:57571288 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 intron_variant 0.358809 0.31218 0.02454 0.062308 0.622068289050882 0.109204 0.999979703146806 TRUE 8.12513e-06 ENSE00001140452_006 ENSE00001140452 006 12 57965048 57965217 + 56 69 45 C T 57965072 2259 25 GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAAGGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 57571288 57571289 57571289 upstr_intron -32 -0.553571428571429 TCTAAACTGGAAGGAGTAGCTTCCTTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 36 238 0.95 0.949345324215015 0.949672662107507 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.0655672735300724 0.232160262886283 0.925169075764882 0.800808893899329 NA 0.148863768208178 NA FALSE NA 0.039 1.283 . intron_variant MODIFIER KIF5A HGNC 6323 ENST00000455537 12/28 1 NA CCT C,T 1.647e-05 12:57571289 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 intron_variant 0.151351 0.31696 0.12969 0.062308 0.58671508771854 0.109204 0.999979703146806 TRUE 8.12466e-06 ENSE00001140452_009 ENSE00001140452 009 12 57965048 57965217 + 56 69 45 C T 57965097 2262 50 GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCCTGTTGAAGGCAACAGGGAAAGACAGGTGAAGGGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 57571313 57571314 57571314 upstr_intron -7 -0.107142857142857 TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTTCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 448 925 0.952419888581399 0.930795967418696 0.941607928000047 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.0679871621114713 0.213610906089965 0.925169075764882 0.800808893899329 NA 0.140799034100718 NA FALSE NA 0 0.322 . splice_region_variant&intron_variant LOW KIF5A HGNC 6323 ENST00000455537 12/28 rs200535153 1 NA TCC C,T 8.236e-06 12:57571314 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 splice_region_variant 0.459646 0.28508 0.0351 0.062308 0.447005448767032 0.163334 0.999979703146806 TRUE 4.06121e-06 ENSE00001140452_011 ENSE00001140452 011 12 57965048 57965217 + 56 69 45 A G 57965121 2264 74 GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGCTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAGGGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 57571337 57571338 57571338 exon 18 0.260869565217391 TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAGCAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 629 74 0.968135523691704 0.995738629234319 0.981937076463011 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.083702797221776 0.278553567905588 0.925169075764882 0.800808893899329 NA 0.181128182563682 NA FALSE NA 1 1.57 . synonymous_variant LOW KIF5A HGNC 6323 ENST00000455537 13/29 1 NA AAC A,G 2.471e-05 12:57571338 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 synonymous_variant 0.46318 0.96672 0.26602 0.706548 0.655910422044109 0 0.999979703146806 TRUE 4.87298e-05 ENSE00001140452_012 ENSE00001140452 012 12 57965048 57965217 + 56 69 45 C T 57965127 2265 80 GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGACTTTGTTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAGGGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 57571343 57571344 57571344 exon 24 0.347826086956522 TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGTCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 45 437 1 1 1 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.115567273530072 0.282814938671269 0.925169075764882 0.800808893899329 NA 0.199191106100671 NA FALSE NA 0.985 0.309 . synonymous_variant LOW KIF5A HGNC 6323 ENST00000455537 13/29 1 NA GCC C,T 8.236e-06 12:57571344 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 synonymous_variant 1.825443 0.97833 0.83188 0.706548 0.722239961881813 0 0.999979703146806 TRUE 4.06088e-06 ENSE00001140452_014 ENSE00001140452 014 12 57965048 57965217 + 56 69 45 G A 57965180 2267 133 GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTTCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAGGGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 57571396 57571397 57571397 downstr_intron 8 1.18181818181818 TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGAAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 387 763 0.965713887937985 0.966277277044986 0.965995582491485 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.0812811614680577 0.249092215716254 0.925169075764882 0.800808893899329 NA 0.165186688592156 NA FALSE NA 0.129 1.529 . splice_region_variant&intron_variant LOW KIF5A HGNC 6323 ENST00000455537 13/28 1 NA GGA G,A 8.236e-06 12:57571397 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 splice_region_variant 0.565275 0.31546 0.08512 0.062308 0.490304640738334 0.694388 0.999979703146806 TRUE 8.12519e-06 ENSE00001140452_017 ENSE00001140452 017 12 57965048 57965217 + 56 69 45 C T 57965189 2270 142 GAACAGAACCCCTTTCCTCTCATGTCCTACCCTCCCTCCTATTACCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCCTGTTGGAGGCAACAGGGAAAGACAGGTGAAGGGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 57571405 57571406 57571406 downstr_intron 17 1.38636363636364 TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGTAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC mutant NA NA NA NA NA 348 946 0.975851101941095 0.979908390368914 0.977879746155005 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA 0.0914183754711677 0.262723329040183 0.925169075764882 0.800808893899329 NA 0.177070852255675 NA FALSE NA 0 -0.702 NA NA NA KIF5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:57571406 KIF5A HGNC Symbol protein_coding 36634 ENSG00000155980 ENSE00001140452 intron_variant 0.402499 0.20311 0.01275 0.062308 0.493791872150707 0.0474637 0.999979703146806 TRUE 2.84564e-05 ENSE00001140452_BRK ENSE00001140452 BRK 12 57965048 57965217 + 56 69 45 A,G; T,T NA NA NA GAACAGAACCCCTTTCCTCTCATGTCCTGCCCTCCCTCCTATTGGCTCTTCCTGGTCCAGCATTTGCTGCTTGAGCTTCTCTATGAGTTGGCTTTGTTGGTTGATTTCATCATCAAGTTGGAGGCAACAGGGAAAGACAGGTGAAGGGAAGCTACTCCTTCCAGTTTAGA 57571264 57571434 NA NA NA NA NA NA TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACTTGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGCCAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC TCTAAACTGGAAGGAGTAGCTTCCCTTCACCTGTCTTTCCCTGTTGCCTCCAACAGGATGATGAAATCAACCAACAAAGCCAACTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGGTAATAGGAGGGAGGGCAGGACATGAGAGGAAAGGGGTTCTGTTC control NA NA NA NA NA 213 162 0.00361116220339823 0 0.00180558110169912 0.992310120278605 0.85802803125116 0.884432726469928 0.717185061328731 NA NA -0.880821564266529 -0.717185061328731 0.925169075764882 0.800808893899329 NA -0.79900331279763 NA TRUE NA NA NA NA NA NA KIF5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF5A NA NA NA ENSG00000155980 ENSE00001140452 NA NA NA NA NA NA NA 0.999979703146806 TRUE NA ENSE00001140521_000 ENSE00001140521 000 4 78808320 78808489 + 54 72 44 NA NA NA NA NA GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 NA NA NA NA NA NA GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG natural 45 42 0.73683027388448 0.635814616803663 0.686322445344071 827 1741 0.499337633615921 0.634598312119698 0.56696797286781 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 0 0 0 0 0.686322445344071 0.56696797286781 0 0 0 FALSE FALSE NA NA NA NA NA MRPL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MRPL1 NA NA NA ENSG00000169288 ENSE00003652051 NA NA NA NA NA NA NA 3.2125698010729e-05 FALSE NA ENSE00001140521_001 ENSE00001140521 001 4 78808320 78808489 + 54 72 44 G T 78808343 782 24 GACTGAATATATTTAAAATTAATTATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887188 77887189 77887189 upstr_intron -31 -0.555555555555556 GACTGAATATATTTAAAATTAATTATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 647 20 1 1 1 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA 0.500662366384079 0.365401687880302 0.686322445344071 0.56696797286781 NA 0.43303202713219 NA FALSE NA 0.592 0.376 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 1 NA TGA G,T 8.237e-06 4:77887189 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 intron_variant -0.197976 0.1957 0.1625 0.322412 0.463047917147884 0.116306 3.2125698010729e-05 FALSE 1.63409e-05 ENSE00001140521_003 ENSE00001140521 003 4 78808320 78808489 + 54 72 44 T C 78808360 784 41 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTACTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887205 77887206 77887206 upstr_intron -14 -0.240740740740741 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTACTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 45 709 1 1 1 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA 0.500662366384079 0.365401687880302 0.686322445344071 0.56696797286781 NA 0.43303202713219 NA FALSE NA 0.898 3.193 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 1 NA ATT T,C 8.237e-06 4:77887206 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 intron_variant 1.397867 0.48231 0.80719 0.322412 0.894625246634483 0.262754 3.2125698010729e-05 FALSE 8.13656e-06 ENSE00001140521_005 ENSE00001140521 005 4 78808320 78808489 + 54 72 44 G A 78808364 786 45 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTATTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887209 77887210 77887210 upstr_intron -10 -0.166666666666667 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTATTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 92 30 1 1 1 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA 0.500662366384079 0.365401687880302 0.686322445344071 0.56696797286781 NA 0.43303202713219 NA FALSE NA 0.001 -1.122 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 1 NA TGT G,A 8.237e-06 4:77887210 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 intron_variant 2.06293 0.25148 0.00871 0.322412 0.720380117884347 0.272415 3.2125698010729e-05 FALSE 4.06762e-06 ENSE00001140521_007 ENSE00001140521 007 4 78808320 78808489 + 54 72 44 C T 78808378 788 59 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGTATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887223 77887224 77887224 exon 5 0.0694444444444444 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGTATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 36 118 0.944807558964178 1 0.972403779482089 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA 0.445469925348256 0.365401687880302 0.686322445344071 0.56696797286781 NA 0.405435806614279 NA FALSE NA 1 2.876 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 1 NA GCA C,T 8.237e-06 4:77887224 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 missense_variant 4.109584 0.98604 0.92856 0.732398 0.998783663640183 0 3.2125698010729e-05 FALSE 4.06544e-06 ENSE00001140521_014 ENSE00001140521 014 4 78808320 78808489 + 54 72 44 C A 78808429 795 110 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCAATAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887274 77887275 77887275 exon -17 0.777777777777778 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCAATAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 410 213 1 0.99982112969341 0.999910564846705 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA 0.500662366384079 0.365222817573712 0.686322445344071 0.56696797286781 NA 0.432942591978895 NA FALSE NA 0.036 0.776 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 rs370691190 1 NA A:0 A:0.0001 ACT C,A 8.237e-06 4:77887275 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 missense_variant 4.142279 0.96713 0.29324 0.732398 0.983608617358829 0 3.2125698010729e-05 FALSE 4.06385e-06 ENSE00001140521_017 ENSE00001140521 017 4 78808320 78808489 + 54 72 44 T C 78808447 798 128 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGCACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887292 77887293 77887293 downstr_intron 2 1.04651162790698 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGCACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 48 137 0 0.0511548614633071 0.0255774307316535 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA -0.499337633615921 -0.583443450656391 0.686322445344071 0.56696797286781 NA -0.541390542136156 NA TRUE NA 1 5.658 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 1 NA GTA T,C 2.471e-05 4:77887293 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 splice_donor_variant 5.148443 0.98841 0.96296 0.106106 0.994659156325884 0.965873 3.2125698010729e-05 FALSE 1.21955e-05 ENSE00001140521_018 ENSE00001140521 018 4 78808320 78808489 + 54 72 44 A G 78808450 799 131 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACGGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887295 77887296 77887296 downstr_intron 5 1.11627906976744 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACGGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 114 224 1 0.999488676955834 0.999744338477917 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA 0.500662366384079 0.364890364836136 0.686322445344071 0.56696797286781 NA 0.432776365610107 NA FALSE NA 0 -1.166 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 1 NA CAG A,G 8.237e-06 4:77887296 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 splice_region_variant 1.035195 0.20351 0.02463 0.106106 0.76117192014031 0.268794 3.2125698010729e-05 FALSE 4.0658e-06 ENSE00001140521_020 ENSE00001140521 020 4 78808320 78808489 + 54 72 44 A T 78808462 801 143 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCTTGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887307 77887308 77887308 downstr_intron 17 1.3953488372093 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCTTGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 729 565 0.997892362000452 0.999719982000082 0.998806172000267 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA 0.498554728384531 0.365121669880383 0.686322445344071 0.56696797286781 NA 0.431838199132457 NA FALSE NA 0 0.296 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 1 NA CAT A,T 8.237e-06 4:77887308 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 intron_variant 0.298072 0.22598 0.12391 0.106106 0.759486869092246 0.0709024 3.2125698010729e-05 FALSE 4.06875e-06 ENSE00001140521_022 ENSE00001140521 022 4 78808320 78808489 + 54 72 44 G T 78808464 803 145 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATTTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 77887309 77887310 77887310 downstr_intron 19 1.44186046511628 GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATTTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG mutant NA NA NA NA NA 45 119 1 1 1 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 NA NA 0.500662366384079 0.365401687880302 0.686322445344071 0.56696797286781 NA 0.43303202713219 NA FALSE NA 0 -0.445 . downstream_gene_variant MODIFIER MRPL1 HGNC 14275 ENST00000511521 1 NA TGT G,T 8.237e-06 4:77887310 MRPL1 HGNC Symbol protein_coding 90270 ENSG00000169288 ENSE00003652051 intron_variant -0.15627 0.2153 0.04373 0.106106 0.577848402893815 0.0699399 3.2125698010729e-05 FALSE 4.07093e-06 ENSE00001140521_BRK ENSE00001140521 BRK 4 78808320 78808489 + 54 72 44 A,G; T,T NA NA NA GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTTTAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGCCACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG 77887165 77887335 NA NA NA NA NA NA GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTTTAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGCCACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG GACTGAATATATTTAAAATTAATGATTGATTTTCAAATTATTGTGTTTTGGTAGAATGCATCAGAGGTCAAAATAGCGGAAGAAAATGGAGCTGCATTTGCAGGAGGCACTAGTCTGATACAGAAGGTACAGTGTTGTTTTCATGTTCATTAAGTATAGAGATGATTCTG control 103 67 0 0 0 NA NA NA NA NA 0.73683027388448 0.635814616803663 0.499337633615921 0.634598312119698 -0.73683027388448 -0.635814616803663 NA NA 0.686322445344071 0.56696797286781 -0.686322445344071 NA NA NA TRUE NA NA NA NA NA MRPL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MRPL1 NA NA NA ENSG00000169288 ENSE00003652051 NA NA NA NA NA NA NA 3.2125698010729e-05 FALSE NA ENSE00001140778_000 ENSE00001140778 000 16 21286805 21286974 - 48 63 59 NA NA NA NA NA TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 NA NA NA NA NA NA TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG natural 22 30 0.975886782007662 0.996035191934444 0.985960986971053 1509 6057 0.912438306310577 0.941584556924366 0.927011431617472 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 0 0 0 0 0.985960986971053 0.927011431617472 0 0 0 FALSE FALSE NA NA NA NA NA CRYM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CRYM NA NA NA ENSG00000103316 ENSE00003584255 NA NA NA NA NA NA NA 0.0271487843921294 FALSE NA ENSE00001140778_002 ENSE00001140778 002 16 21286805 21286974 - 48 63 59 A T 21286846 1302 129 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGAAGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275524 21275525 21275525 downstr_intron 7 1.14893617021277 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGAAGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 40 86 1 1 1 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA 0.0875616936894233 0.0584154430756335 0.985960986971053 0.927011431617472 NA 0.0729885683825284 NA FALSE NA 0 -0.69 . splice_region_variant&intron_variant LOW CRYM HGNC 2418 ENST00000576703 4/7 1 NA CAT A,T 8.236e-06 16:21275525 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 splice_region_variant -0.042086 0.21681 0.02066 0.114469 0.5886462306443 0.240866 0.0271487843921294 FALSE 4.06283e-06 ENSE00001140778_003 ENSE00001140778 003 16 21286805 21286974 - 48 63 59 T C 21286849 1303 126 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAGGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275527 21275528 21275528 downstr_intron 4 1.08510638297872 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAGGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 89 163 0.996538272027364 1 0.998269136013682 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA 0.0840999657167878 0.0584154430756335 0.985960986971053 0.927011431617472 NA 0.0712577043962107 NA FALSE NA 1 2.525 . splice_region_variant&intron_variant LOW CRYM HGNC 2418 ENST00000576703 4/7 1 NA CTT T,C 1.647e-05 16:21275528 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 splice_region_variant 1.510902 0.9746 0.78953 0.114469 0.921219551590115 0.87799 0.0271487843921294 FALSE 1.21879e-05 ENSE00001140778_004 ENSE00001140778 004 16 21286805 21286974 - 48 63 59 T C 21286855 1304 120 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCGAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275533 21275534 21275534 exon -3 0.968253968253968 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCGAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 249 419 0.998837297957177 1 0.999418648978589 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA 0.0863989916466005 0.0584154430756335 0.985960986971053 0.927011431617472 NA 0.072407217361117 NA FALSE NA 1 5.256 rs147531240 missense_variant&splice_region_variant MODERATE CRYM HGNC 2418 ENST00000576703 4/8 rs147531240 1 deleterious(0) possibly_damaging(0.84) NA C:0 C:0.0001 TTG T,C 8.236e-06 16:21275534 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 missense_variant 5.810818 0.98468 0.93771 0.706298 0.997958625388908 0 0.0271487843921294 FALSE 4.062e-06 ENSE00001140778_006 ENSE00001140778 006 16 21286805 21286974 - 48 63 59 G A 21286890 1306 85 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGTAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275568 21275569 21275569 exon 26 0.412698412698413 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGTAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 24 521 1 0.996414924651466 0.998207462325733 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA 0.0875616936894233 0.0548303677270997 0.985960986971053 0.927011431617472 NA 0.0711960307082615 NA FALSE NA 1 2.346 . missense_variant MODERATE CRYM HGNC 2418 ENST00000576703 4/8 1 tolerated(0.23) possibly_damaging(0.745) NA TGC G,A 8.236e-06 16:21275569 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 missense_variant 5.166368 0.9875 0.9113 0.706298 0.998925669606977 0 0.0271487843921294 FALSE 4.06157e-06 ENSE00001140778_008 ENSE00001140778 008 16 21286805 21286974 - 48 63 59 C T 21286915 1308 60 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGATCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275593 21275594 21275594 exon 1 0.0158730158730159 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGATCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant 38 58 0.85 0.85 0.85 NA NA NA NA NA 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 -0.125886782007662 -0.146035191934444 NA NA 0.985960986971053 0.927011431617472 -0.135960986971053 NA NA NA FALSE 1 1.465 . missense_variant&splice_region_variant MODERATE CRYM HGNC 2418 ENST00000576703 4/8 1 tolerated(0.65) benign(0.006) NA ACC C,T 8.236e-06 16:21275594 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 missense_variant 2.725914 0.97739 0.84571 0.706298 0.928250692639315 0 0.0271487843921294 FALSE 4.0622e-06 ENSE00001140778_010 ENSE00001140778 010 16 21286805 21286974 - 48 63 59 A G 21286927 1310 48 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCCTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275605 21275606 21275606 upstr_intron -12 -0.186440677966102 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCCTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 387 1299 1 0.999878231672472 0.999939115836236 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA 0.0875616936894233 0.0582936747481055 0.985960986971053 0.927011431617472 NA 0.0729276842187644 NA FALSE NA 0.002 0.463 rs226045 intron_variant MODIFIER CRYM HGNC 2418 ENST00000576703 3/7 rs226045 1 G:0.2029 G:0.3775 G:0.2089 NA G:0.001 G:0.2137 G:0.1595 G:0.3611 G:0.2499 AAG G,G 0.233 16:21275606 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 intron_variant 0.912434 0.94252 0.04888 0.158681 0.84187083903921 0.369537 0.0271487843921294 FALSE 0.226278 ENSE00001140778_011 ENSE00001140778 011 16 21286805 21286974 - 48 63 59 G A 21286928 1311 47 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTTTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275606 21275607 21275607 upstr_intron -13 -0.203389830508475 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTTTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 79 62 1 1 1 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA 0.0875616936894233 0.0584154430756335 0.985960986971053 0.927011431617472 NA 0.0729885683825284 NA FALSE NA 0 -0.072 . intron_variant MODIFIER CRYM HGNC 2418 ENST00000576703 3/7 rs370820452 1 NA T:0.0002 T:0 AGA G,A 8.236e-06 16:21275607 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 intron_variant 1.070002 0.97007 0.095 0.158681 0.666151386953366 0.352994 0.0271487843921294 FALSE 4.06402e-06 ENSE00001140778_012 ENSE00001140778 012 16 21286805 21286974 - 48 63 59 G C 21286932 1312 43 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTGTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275610 21275611 21275611 upstr_intron -17 -0.271186440677966 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTGTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant 18 23 0.937424027306954 0.881604356891069 0.909514192099011 1151 389 0.997250548182362 0.999495026965272 0.998372787573817 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 -0.0384627547007085 -0.114430835043375 0.0848122418717852 0.0579104700409052 0.985960986971053 0.927011431617472 -0.0764467948720418 0.0713613559563452 0.147808150828387 FALSE FALSE 0.055 0.872 . intron_variant MODIFIER CRYM HGNC 2418 ENST00000576703 3/7 1 NA AGA G,C 1.647e-05 16:21275611 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 intron_variant 0.616707 0.96821 0.27361 0.119485 0.765359690252323 0.279437 0.0271487843921294 FALSE 1.62571e-05 ENSE00001140778_013 ENSE00001140778 013 16 21286805 21286974 - 48 63 59 C G 21286934 1313 41 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTCTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275612 21275613 21275613 upstr_intron -19 -0.305084745762712 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTCTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 255 69 1 1 1 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA 0.0875616936894233 0.0584154430756335 0.985960986971053 0.927011431617472 NA 0.0729885683825284 NA FALSE NA 0.001 -0.072 . intron_variant MODIFIER CRYM HGNC 2418 ENST00000576703 3/7 rs376143999 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0011 G:0 ACA C,G 7.413e-05 16:21275613 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 intron_variant 0.647362 0.93136 0.05598 0.119485 0.637007722880583 0.279437 0.0271487843921294 FALSE 5.69138e-05 ENSE00001140778_014 ENSE00001140778 014 16 21286805 21286974 - 48 63 59 G A 21286936 1314 39 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCATTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275614 21275615 21275615 upstr_intron -21 -0.338983050847458 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCATTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 397 1127 0.993359210398822 0.997182945433309 0.995271077916065 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA 0.0809209040882455 0.0555983885089421 0.985960986971053 0.927011431617472 NA 0.0682596462985938 NA FALSE NA 0 -0.147 . intron_variant MODIFIER CRYM HGNC 2418 ENST00000576703 3/7 rs543824679 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGT G,A 8.236e-06 16:21275615 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 intron_variant 0.624918 0.92756 0.06419 0.119485 0.619232354795386 0.246612 0.0271487843921294 FALSE 8.13299e-06 ENSE00001140778_015 ENSE00001140778 015 16 21286805 21286974 - 48 63 59 G A 21286938 1315 37 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTTACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 21275616 21275617 21275617 upstr_intron -23 -0.372881355932203 TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTTACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG mutant NA NA NA NA NA 494 291 0.799407906801491 0.99907925742667 0.899243582114081 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA -0.113030399509085 0.0574947005023033 0.985960986971053 0.927011431617472 NA -0.027767849503391 NA FALSE NA 0 0.433 . intron_variant MODIFIER CRYM HGNC 2418 ENST00000576703 3/7 1 NA TGA G,A 8.236e-06 16:21275617 CRYM HGNC Symbol protein_coding 64209 ENSG00000103316 ENSE00003584255 intron_variant 0.344921 0.91051 0.22953 0.119485 0.596404942079807 0.228075 0.0271487843921294 FALSE NA ENSE00001140778_BRK ENSE00001140778 BRK 16 21286805 21286974 - 48 63 59 A,G; T,T NA NA NA TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCATTGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGCCAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG 21275483 21275653 NA NA NA NA NA NA TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCATTGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGCCAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG TTCTAATTTATGCAGTGGACAGGGGTTCCCCTTGCTCACTGTCTCTCTTTTCCTCCAAGGTCATGGATGGAAATGTCATAACTGCAAAGAGAACAGCTGCAGTTTCTGCCATTGCCACCAAGGTAAGATGAATGGCTGGCTGTACCATTAAGGTGAGCTGTCAAGTGGGG control NA NA NA NA NA 1605 490 0.00681996436040579 0 0.00340998218020289 0.975886782007662 0.996035191934444 0.912438306310577 0.941584556924366 NA NA -0.905618341950171 -0.941584556924366 0.985960986971053 0.927011431617472 NA -0.923601449437269 NA TRUE NA NA NA NA NA NA CRYM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CRYM NA NA NA ENSG00000103316 ENSE00003584255 NA NA NA NA NA NA NA 0.0271487843921294 FALSE NA ENSE00001141435_000 ENSE00001141435 000 3 33063023 33063192 - 35 90 45 NA NA NA NA NA CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 NA NA NA NA NA NA CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT natural 184 359 0.85 0.85 0.85 2179 2057 0.885767967740618 0.942663902501815 0.914215935121217 0.85 0.85 0.885767967740618 0.942663902501815 0 0 0 0 0.85 0.914215935121217 0 0 0 FALSE FALSE NA NA NA NA NA GLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLB1 NA NA NA ENSG00000170266 ENSE00003567674 NA NA NA NA NA NA NA 4.86457143252396e-08 FALSE NA ENSE00001141435_004 ENSE00001141435 004 3 33063023 33063192 - 35 90 45 T C 33063046 417 147 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAGAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021553 33021554 33021554 downstr_intron 12 1.35294117647059 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAGAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 184 1581 0.859044486723339 0.825620106676206 0.842332296699772 0.85 0.85 0.885767967740618 0.942663902501815 NA NA -0.0267234810172796 -0.117043795825609 0.85 0.914215935121217 NA -0.0718836384214444 NA FALSE NA 0 -0.87 . downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 1 NA TTT T,C 8.276e-06 3:33021554 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 non_coding_transcript_exon_variant 1.868008 0.12 0.00756 0.322412 0.795222446872453 0.295154 4.86457143252396e-08 FALSE 4.0939e-06 ENSE00001141435_005 ENSE00001141435 005 3 33063023 33063192 - 35 90 45 A G 33063050 418 143 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCCTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021557 33021558 33021558 downstr_intron 8 1.23529411764706 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCCTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 256 14 0.972294886070699 0.95 0.961147443035349 0.85 0.85 0.885767967740618 0.942663902501815 NA NA 0.0865269183300803 0.00733609749818465 0.85 0.914215935121217 NA 0.0469315079141325 NA FALSE NA 0.542 2.566 rs13093698 downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 rs13093698 1 G:0.1635 G:0.2194 G:0.1556 NA G:0.0417 G:0.2058 G:0.1759 G:0.2135 G:0.212 AAG A,G 0.194 3:33021558 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 splice_region_variant 1.425873 0.26267 0.03946 0.322412 0.782663189406197 0.313037 4.86457143252396e-08 FALSE 0.194617 ENSE00001141435_006 ENSE00001141435 006 3 33063023 33063192 - 35 90 45 T G 33063063 419 130 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGCAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021570 33021571 33021571 exon -6 0.944444444444444 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGCAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 75 767 0.836221200418131 0.806410821144922 0.821316010781526 0.85 0.85 0.885767967740618 0.942663902501815 NA NA -0.0495467673224878 -0.136253081356893 0.85 0.914215935121217 NA -0.0928999243396904 NA FALSE NA 1 4.827 . downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 1 NA TTC T,G 4.138e-05 3:33021571 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 missense_variant 3.163754 0.98575 0.96086 0.732398 0.985335373874699 0 4.86457143252396e-08 FALSE 6.51795e-05 ENSE00001141435_008 ENSE00001141435 008 3 33063023 33063192 - 35 90 45 G C 33063082 421 111 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCGTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021589 33021590 33021590 exon -25 0.733333333333333 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCGTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 581 332 0.993874845480302 1 0.996937422740151 0.85 0.85 0.885767967740618 0.942663902501815 NA NA 0.108106877739683 0.0573360974981846 0.85 0.914215935121217 NA 0.082721487618934 NA FALSE NA 0.697 -0.08 . downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 rs528690108 1 C:0.0012 C:0 C:0 NA C:0 C:0 C:0.0061 AGG G,C 0.0001655 3:33021590 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 synonymous_variant 0.7821 0.95502 0.48008 0.732398 0.712438839648195 0 4.86457143252396e-08 FALSE 0.000117944 ENSE00001141435_011 ENSE00001141435 011 3 33063023 33063192 - 35 90 45 C A 33063115 424 78 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTTTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021622 33021623 33021623 exon 33 0.366666666666667 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTTTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 23 892 0.8 0.863508109426299 0.831754054713149 0.85 0.85 0.885767967740618 0.942663902501815 NA NA -0.0857679677406182 -0.0791557930755166 0.85 0.914215935121217 NA -0.0824618804080674 NA FALSE NA 1 0.764 . downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 1 NA ACA C,A 8.274e-06 3:33021623 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 synonymous_variant 2.42583 0.98096 0.87374 0.732398 0.787787411056486 0 4.86457143252396e-08 FALSE NA ENSE00001141435_015 ENSE00001141435 015 3 33063023 33063192 - 35 90 45 T C 33063139 428 54 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACGGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021646 33021647 33021647 exon 9 0.1 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACGGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 105 519 0.80459411784758 0.849488672230472 0.827041395039026 0.85 0.85 0.885767967740618 0.942663902501815 NA NA -0.081173849893038 -0.0931752302713438 0.85 0.914215935121217 NA -0.0871745400821909 NA FALSE NA 0.558 -1.054 . downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 1 NA CTG T,C 8.274e-06 3:33021647 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 synonymous_variant 0.358599 0.95134 0.25102 0.732398 0.655610003310827 0 4.86457143252396e-08 FALSE 4.07877e-06 ENSE00001141435_016 ENSE00001141435 016 3 33063023 33063192 - 35 90 45 A G 33063153 429 40 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTCTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021660 33021661 33021661 upstr_intron -6 -0.111111111111111 CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTCTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 537 145 0.00071295580662135 0.00253087296138601 0.00162191438400368 0.85 0.85 0.885767967740618 0.942663902501815 NA NA -0.885055011933997 -0.940133029540429 0.85 0.914215935121217 NA -0.912594020737213 NA TRUE NA 1 1.778 . downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 1 NA AAA A,G 8.272e-06 3:33021661 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 splice_region_variant 1.580218 0.95743 0.75264 0.088506 0.881118067971005 0.505809 4.86457143252396e-08 FALSE 8.20244e-06 ENSE00001141435_017 ENSE00001141435 017 3 33063023 33063192 - 35 90 45 C T 33063168 430 25 CAGTGAGGGGTGCAGTGTGTGAATACTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021675 33021676 33021676 upstr_intron -21 -0.444444444444444 CAGTGAGGGGTGCAGTGTGTGAATACTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 5197 1073 0.946584264574092 0.963025805520549 0.954805035047321 0.85 0.85 0.885767967740618 0.942663902501815 NA NA 0.060816296833474 0.0203619030187332 0.85 0.914215935121217 NA 0.0405890999261036 NA FALSE NA 0.004 -0.635 . downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 1 NA GCA C,T 1.654e-05 3:33021676 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 intron_variant 1.065657 0.17395 0.02763 0.088506 0.788988938452357 0.156432 4.86457143252396e-08 FALSE 1.67363e-05 ENSE00001141435_018 ENSE00001141435 018 3 33063023 33063192 - 35 90 45 C G 33063172 431 21 CAGTGAGGGGTGCAGTGTGTCAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT 33021530 33021700 33021679 33021680 33021680 upstr_intron -25 -0.533333333333333 CAGTGAGGGGTGCAGTGTGTCAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT CAGTGAGGGGTGCAGTGTGTGAATGCTGCTTTTGTTTCTTTTCAGTTAAAGACAGTGGGAGCAGCTCTGGACATTCTGTGTCCCTCTGGGCCCATCAAAAGCCTTTATCCCTTGACATTTATCCAGGTGAAACAGGTAGGCCTTCAAAGGTAATGCCTCGCCTTTTTTCT mutant NA NA NA NA NA 604 23 0.80133308117472 0.8 0.80066654058736 0.85 0.85 0.885767967740618 0.942663902501815 NA NA -0.0844348865658981 -0.142663902501815 0.85 0.914215935121217 NA -0.113549394533857 NA FALSE NA 0 -0.523 . downstream_gene_variant MODIFIER GLB1 HGNC 4298 ENST00000485698 1 NA TCA C,G 8.272e-06 3:33021680 GLB1 HGNC Symbol protein_coding 100622 ENSG00000170266 ENSE00003567674 intron_variant -0.048397 0.12148 0.03724 0.088506 0.648232094112898 0.156432 4.86457143252396e-08 FALSE NA ENSE00001142539_000 ENSE00001142539 000 1 44778791 44778960 - 50 60 60 NA NA NA NA NA TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 NA NA NA NA NA NA TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT natural 75 44 0.978830580095143 0.99904960785181 0.988940093973476 2336 1625 0.939941993377072 0.971582332525211 0.955762162951141 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 0 0 0 0 0.988940093973476 0.955762162951141 0 0 0 FALSE FALSE NA NA NA NA NA ERI3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERI3 NA NA NA ENSG00000117419 ENSE00003510458 NA NA NA NA NA NA NA 0.129756091189771 FALSE NA ENSE00001142539_004 ENSE00001142539 004 1 44778791 44778960 - 50 60 60 G C 44778826 1715 135 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACGTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 44313153 44313154 44313154 downstr_intron 15 1.30612244897959 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACGTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT mutant NA NA NA NA NA 563 653 0.99867678023151 0.992213426669734 0.995445103450622 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 NA NA 0.0587347868544386 0.0206310941445232 0.988940093973476 0.955762162951141 NA 0.0396829404994809 NA FALSE NA 1 5.213 . intron_variant&non_coding_transcript_variant MODIFIER ERI3 HGNC 17276 ENST00000495828 4/5 1 NA AGG G,C 1.647e-05 1:44313154 ERI3 HGNC Symbol protein_coding 134190 ENSG00000117419 ENSE00003510458 intron_variant 1.988751 0.99172 0.98979 0.295142 0.848150390858666 0.987316 0.129756091189771 FALSE 8.12348e-06 ENSE00001142539_005 ENSE00001142539 005 1 44778791 44778960 - 50 60 60 C T 44778831 1716 130 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAATGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 44313158 44313159 44313159 downstr_intron 10 1.20408163265306 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAATGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT mutant NA NA NA NA NA 198 265 1 1 1 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 NA NA 0.0600580066229283 0.0284176674747888 0.988940093973476 0.955762162951141 NA 0.0442378370488585 NA FALSE NA 0.815 -0.318 . intron_variant&non_coding_transcript_variant MODIFIER ERI3 HGNC 17276 ENST00000495828 4/5 rs369995897 1 NA T:0 T:0.0001 ACT C,T 8.236e-06 1:44313159 ERI3 HGNC Symbol protein_coding 134190 ENSG00000117419 ENSE00003510458 intron_variant 2.013309 0.86843 0.32808 0.295142 0.692846643974371 0.550324 0.129756091189771 FALSE 8.12321e-06 ENSE00001142539_007 ENSE00001142539 007 1 44778791 44778960 - 50 60 60 G A 44778858 1718 103 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCTTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 44313185 44313186 44313186 exon -18 0.716666666666667 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCTTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT mutant NA NA NA NA NA 430 116 0.998749140884672 1 0.999374570442336 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 NA NA 0.0588071475075999 0.0284176674747888 0.988940093973476 0.955762162951141 NA 0.0436124074911943 NA FALSE NA 1 3.368 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ERI3 HGNC 17276 ENST00000495828 4/6 rs372669116 1 NA A:0.0002 A:0 AGG G,A 8.236e-06 1:44313186 ERI3 HGNC Symbol protein_coding 134190 ENSG00000117419 ENSE00003510458 synonymous_variant 0.47235 0.98647 0.93155 0.722319 0.737055449816597 0 0.129756091189771 FALSE NA ENSE00001142539_010 ENSE00001142539 010 1 44778791 44778960 - 50 60 60 C G 44778892 1721 69 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGCATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 44313219 44313220 44313220 exon 9 0.15 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGCATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT mutant NA NA NA NA NA 287 1174 1 0.998196930269388 0.999098465134694 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 NA NA 0.0600580066229283 0.026614597744177 0.988940093973476 0.955762162951141 NA 0.0433363021835526 NA FALSE NA 1 0.845 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ERI3 HGNC 17276 ENST00000495828 4/6 1 NA TCC C,G 8.236e-06 1:44313220 ERI3 HGNC Symbol protein_coding 134190 ENSG00000117419 ENSE00003510458 synonymous_variant 0.98366 0.97226 0.90306 0.722319 0.621227645144426 0 0.129756091189771 FALSE 4.06336e-06 ENSE00001142539_011 ENSE00001142539 011 1 44778791 44778960 - 50 60 60 G A 44778895 1722 66 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACTGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 44313222 44313223 44313223 exon 6 0.1 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACTGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT mutant NA NA NA NA NA 936 1335 1 1 1 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 NA NA 0.0600580066229283 0.0284176674747888 0.988940093973476 0.955762162951141 NA 0.0442378370488585 NA FALSE NA 0.94 -0.115 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:44313223 ERI3 HGNC Symbol protein_coding 134190 ENSG00000117419 ENSE00003510458 synonymous_variant 1.037838 0.94884 0.47253 0.722319 0.671764912136621 0 0.129756091189771 FALSE 6.90832e-05 ENSE00001142539_012 ENSE00001142539 012 1 44778791 44778960 - 50 60 60 G T 44778895 1723 66 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACAGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 44313222 44313223 44313223 exon 6 0.1 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACAGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT mutant NA NA NA NA NA 73 368 0.999434887147637 0.995206313530961 0.997320600339299 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 NA NA 0.0594928937705657 0.02362398100575 0.988940093973476 0.955762162951141 NA 0.0415584373881578 NA FALSE NA 0.94 -0.115 NA NA NA ERI3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERI3 NA NA NA ENSG00000117419 ENSE00003510458 synonymous_variant 0.770593 0.95209 0.60957 0.722319 0.627322759012161 0 0.129756091189771 FALSE 4.06372e-06 ENSE00001142539_014 ENSE00001142539 014 1 44778791 44778960 - 50 60 60 C A 44778921 1725 40 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGTCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 44313248 44313249 44313249 upstr_intron -21 -0.333333333333333 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGTCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT mutant NA NA NA NA NA 901 222 1 1 1 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 NA NA 0.0600580066229283 0.0284176674747888 0.988940093973476 0.955762162951141 NA 0.0442378370488585 NA FALSE NA 0.011 -0.112 . intron_variant&non_coding_transcript_variant MODIFIER ERI3 HGNC 17276 ENST00000495828 3/5 rs376024138 1 NA A:0.0002 A:0 GCC C,A 8.236e-06 1:44313249 ERI3 HGNC Symbol protein_coding 134190 ENSG00000117419 ENSE00003510458 intron_variant 0.32734 0.36481 0.08119 0.062308 0.629928007825851 0.144094 0.129756091189771 FALSE 4.0662e-06 ENSE00001142539_019 ENSE00001142539 019 1 44778791 44778960 - 50 60 60 A G 44778930 1730 31 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCCACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT 44313118 44313288 44313257 44313258 44313258 upstr_intron -30 -0.483333333333333 TCAGCCTTGAGTCCCTTCACCCTGGTTTTCCACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT TCAGCCTTGAGTCCCTTCACCCTGGTTTTCTACCCATCGGCTATTTCTCTTTCCTTTCAGCTCACCGGGATTATTCAAGCCATGGTGGATGGTCAGCCAAGCCTGCAGCAAGTGCTGGAGGTAGGTTGAGTGACCTTTAATTCCTGACCTCTGACCCCTTCCTGCTGCCT mutant NA NA NA NA NA 77 61 0.991696944592546 1 0.995848472296273 0.978830580095143 0.99904960785181 0.939941993377072 0.971582332525211 NA NA 0.0517549512154744 0.0284176674747888 0.988940093973476 0.955762162951141 NA 0.0400863093451316 NA FALSE NA 0.946 -0.349 . intron_variant&non_coding_transcript_variant MODIFIER ERI3 HGNC 17276 ENST00000495828 3/5 1 NA TAG A,G 8.236e-06 1:44313258 ERI3 HGNC Symbol protein_coding 134190 ENSG00000117419 ENSE00003510458 intron_variant 0.356245 0.88779 0.02717 0.062308 0.465508642117209 0.197429 0.129756091189771 FALSE 8.1363e-06 ENSE00001142575_000 ENSE00001142575 000 15 34163104 34163273 - 32 96 42 NA NA NA NA NA ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG 33870902 33871072 NA NA NA NA NA NA ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG natural NA NA NA NA NA 608 54 0.999068031441162 1 0.999534015720581 NA NA 0.999068031441162 1 NA NA 0 0 NA 0.999534015720581 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AVEN NA NA NA ENSG00000169857 ENSE00003459236 NA NA NA NA NA NA NA 5.70186245131166e-08 FALSE NA ENSE00001142575_004 ENSE00001142575 004 15 34163104 34163273 - 32 96 42 C G 34163124 281 150 ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCCAAGCCCTCTTGAAGCGGGTG 33870902 33871072 33870922 33870923 33870923 downstr_intron 12 1.38709677419355 ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCCAAGCCCTCTTGAAGCGGGTG ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG mutant NA NA NA NA NA 14 1095 1 0.99923170435554 0.99961585217777 NA NA 0.999068031441162 1 NA NA 0.000931968558838037 -0.000768295644459904 NA 0.999534015720581 NA 8.18364571890662e-05 NA FALSE NA 0 -0.575 NA NA NA AVEN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:33870923 AVEN HGNC Symbol protein_coding 172949 ENSG00000169857 ENSE00003459236 intron_variant 0.047018 0.21271 0.02729 0.164513 0.497275179494738 0.0448725 5.70186245131166e-08 FALSE 1.22463e-05 ENSE00001142575_011 ENSE00001142575 011 15 34163104 34163273 - 32 96 42 G A 34163148 288 126 ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCTGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG 33870902 33871072 33870946 33870947 33870947 exon -13 0.875 ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCTGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG mutant NA NA NA NA NA 229 25 1 1 1 NA NA 0.999068031441162 1 NA NA 0.000931968558838037 0 NA 0.999534015720581 NA 0.000465984279419018 NA FALSE NA 0 -1.635 rs141396030 synonymous_variant&NMD_transcript_variant LOW AVEN HGNC 13509 ENST00000560649 2/4 rs141396030 1 A:0.0014 A:0.0053 A:0 NA A:0 A:0 A:0 A:0.0084 A:0.0001 CGG G,A 0.0005683 15:33870947 AVEN HGNC Symbol protein_coding 172949 ENSG00000169857 ENSE00003459236 synonymous_variant 1.381198 0.22394 0.00999 0.706298 0.884532069651779 0 5.70186245131166e-08 FALSE 0.000497212 ENSE00001142575_023 ENSE00001142575 023 15 34163104 34163273 - 32 96 42 C T 34163209 300 65 ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAATGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG 33870902 33871072 33871007 33871008 33871008 exon 23 0.239583333333333 ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAATGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG mutant NA NA NA NA NA 38 89 0.991000947945555 1 0.995500473972778 NA NA 0.999068031441162 1 NA NA -0.00806708349560703 0 NA 0.999534015720581 NA -0.00403354174780352 NA FALSE NA 1 3.371 . missense_variant&NMD_transcript_variant MODERATE AVEN HGNC 13509 ENST00000560649 2/4 1 deleterious_low_confidence(0.01) benign(0.228) NA ACT C,T 8.237e-06 15:33871008 AVEN HGNC Symbol protein_coding 172949 ENSG00000169857 ENSE00003459236 missense_variant 4.010998 0.98603 0.9579 0.706298 0.991961903304971 0 5.70186245131166e-08 FALSE 4.1112e-06 ENSE00001142575_024 ENSE00001142575 024 15 34163104 34163273 - 32 96 42 T C 34163210 301 64 ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATGGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG 33870902 33871072 33871008 33871009 33871009 exon 22 0.229166666666667 ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATGGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG ATCATCACCTGATATTTTATTTTCTTTTATATATATATATAGAATTCAGCATTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGTAAAAATCCCGAAGCCCTCTTGAAGCGGGTG mutant NA NA NA NA NA 218 329 1 1 1 NA NA 0.999068031441162 1 NA NA 0.000931968558838037 0 NA 0.999534015720581 NA 0.000465984279419018 NA FALSE NA 1 3.384 . missense_variant&NMD_transcript_variant MODERATE AVEN HGNC 13509 ENST00000560649 2/4 1 tolerated_low_confidence(0.08) benign(0.123) NA CTA T,C 1.647e-05 15:33871009 AVEN HGNC Symbol protein_coding 172949 ENSG00000169857 ENSE00003459236 missense_variant 1.956812 0.98194 0.91145 0.706298 0.617427711426736 0 5.70186245131166e-08 FALSE 8.2333e-06 ENSE00001143197_000 ENSE00001143197 000 16 20371855 20372024 - 35 90 45 NA NA NA NA NA ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 NA NA NA NA NA NA GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT natural 25 47 0.981036000938103 0.993109375760019 0.987072688349061 4153 3150 0.921870981670517 0.991601253990005 0.956736117830261 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 0 0 0 0 0.987072688349061 0.956736117830261 0 0 0 FALSE FALSE NA NA NA NA NA UMOD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDILT NA NA NA ENSG00000169340 ENSE00001143197 NA NA NA NA NA NA NA 9.26418194186399e-06 FALSE NA ENSE00001143197_002 ENSE00001143197 002 16 20371855 20372024 - 35 90 45 G A 20371870 1220 155 ACAGAATAATTCAGAATATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360547 20360548 20360548 downstr_intron 20 1.58823529411765 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATATTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 1909 428 0.995310967244039 0.995016180269501 0.99516357375677 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0734399855735223 0.00341492627949647 0.987072688349061 0.956736117830261 NA 0.0384274559265094 NA FALSE NA 0 -1.237 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA AGT G,A 8.236e-06 16:20360548 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 intron_variant -0.020494 0.20963 0.02883 0.061011 0.241666550754249 0.0684286 9.26418194186399e-06 FALSE 8.12658e-06 ENSE00001143197_003 ENSE00001143197 003 16 20371855 20372024 - 35 90 45 C A 20371876 1221 149 ACAGAATAATTCAGAGTATTTATGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360553 20360554 20360554 downstr_intron 14 1.41176470588235 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACATAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant 30 22 1 0.995902149317289 0.997951074658644 1029 183 0.996519477114606 1 0.998259738557303 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 0.0189639990618968 0.00279277355726959 0.0746484954440889 0.00839874600999502 0.987072688349061 0.956736117830261 0.0108783863095832 0.041523620727042 0.0306452344174588 FALSE FALSE 0.001 0.837 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 rs370063827 1 NA A:0.0011 A:0 TCT C,A 8.236e-06 16:20360554 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 intron_variant -0.187433 0.19795 0.14431 0.061011 0.281908128723896 0.0869371 9.26418194186399e-06 FALSE 1.21887e-05 ENSE00001143197_004 ENSE00001143197 004 16 20371855 20372024 - 35 90 45 G A 20371878 1222 147 ACAGAATAATTCAGAGTATTTCTATTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360555 20360556 20360556 downstr_intron 12 1.35294117647059 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAATAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 781 1151 0.995237590785236 0.999801368746088 0.997519479765662 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0733666091147194 0.00820011475608284 0.987072688349061 0.956736117830261 NA 0.0407833619354011 NA FALSE NA 0 0.04 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA TGT G,A 1.647e-05 16:20360556 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 intron_variant 0.385377 0.23237 0.07552 0.061011 0.680419915878069 0.0869371 9.26418194186399e-06 FALSE 1.2188e-05 ENSE00001143197_005 ENSE00001143197 005 16 20371855 20372024 - 35 90 45 T A 20371887 1223 138 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTAACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360564 20360565 20360565 downstr_intron 3 1.08823529411765 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTTAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant 93 262 0.0417780847940886 0.0582811303070282 0.0500296075505584 74 1273 0 0.0443205073586992 0.0221602536793496 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 -0.939257916144015 -0.934828245452991 -0.921870981670517 -0.947280746631306 0.987072688349061 0.956736117830261 -0.937043080798503 -0.934575864150911 0.00246721664759142 TRUE TRUE 1 3.672 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:20360565 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 splice_region_variant 1.89047 0.93751 0.88926 0.061011 0.932517532958148 0.950981 9.26418194186399e-06 FALSE 8.12328e-06 ENSE00001143197_006 ENSE00001143197 006 16 20371855 20372024 - 35 90 45 T C 20371887 1224 138 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTCACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360564 20360565 20360565 downstr_intron 3 1.08823529411765 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTGAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant 136 168 0.85 0.85 0.85 110 80 0.969535129721186 0.976531392622268 0.973033261171727 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 -0.131036000938103 -0.143109375760019 0.0476641480506695 -0.0150698613677371 0.987072688349061 0.956736117830261 -0.137072688349061 0.0162971433414662 0.153369831690527 FALSE FALSE 1 3.672 NA NA NA UMOD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDILT NA NA NA ENSG00000169340 ENSE00001143197 splice_region_variant 1.577652 0.93649 0.88485 0.061011 0.942935120384639 0.950981 9.26418194186399e-06 FALSE 1.21849e-05 ENSE00001143197_008 ENSE00001143197 008 16 20371855 20372024 - 35 90 45 C A 20371895 1226 130 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATACTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360572 20360573 20360573 exon -6 0.944444444444444 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGTATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 484 947 0.999914941529338 0.998158494310216 0.999036717919777 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0780439598588216 0.0065572403202111 0.987072688349061 0.956736117830261 NA 0.0423006000895164 NA FALSE NA 0.302 2.199 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA TCC C,A 1.647e-05 16:20360573 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant 5.724708 0.33969 0.38196 0.487112 0.989354400173663 0 9.26418194186399e-06 FALSE 2.4371e-05 ENSE00001143197_009 ENSE00001143197 009 16 20371855 20372024 - 35 90 45 A G 20371906 1227 119 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAGTCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360583 20360584 20360584 exon -17 0.822222222222222 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGACTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 211 268 0.998231299741011 1 0.999115649870505 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0763603180704939 0.00839874600999502 0.987072688349061 0.956736117830261 NA 0.0423795320402445 NA FALSE NA 0 -0.474 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA AAT A,G 1.647e-05 16:20360584 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant -0.632046 0.19192 0.02393 0.487112 0.783137167058207 0 9.26418194186399e-06 FALSE 1.2186e-05 ENSE00001143197_010 ENSE00001143197 010 16 20371855 20372024 - 35 90 45 C G 20371908 1228 117 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATGTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360585 20360586 20360586 exon -19 0.8 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAACATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 126 568 1 1 1 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0781290183294833 0.00839874600999502 0.987072688349061 0.956736117830261 NA 0.0432638821697391 NA FALSE NA 0 -0.146 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 COSM176681 1 NA TCT C,G 1.647e-05 16:20360586 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant 0.574838 0.22893 0.0931 0.487112 0.845118721400235 0 9.26418194186399e-06 FALSE 3.2496e-05 ENSE00001143197_011 ENSE00001143197 011 16 20371855 20372024 - 35 90 45 G C 20371912 1229 113 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTACTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360589 20360590 20360590 exon -23 0.755555555555556 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAAGTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 1173 18 0.998134518136828 1 0.999067259068414 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0762635364663116 0.00839874600999502 0.987072688349061 0.956736117830261 NA 0.0423311412381533 NA FALSE NA 0 0.333 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 rs202032641 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 AGT G,C 8.236e-06 16:20360590 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant -1.193012 0.23653 0.09176 0.487112 0.664499174661576 0 9.26418194186399e-06 FALSE NA ENSE00001143197_012 ENSE00001143197 012 16 20371855 20372024 - 35 90 45 T A 20371916 1230 109 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTAGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360593 20360594 20360594 exon -27 0.711111111111111 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCTAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant 20 14 0.977297170673571 0.988343344406303 0.982820257539937 NA NA NA NA NA 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 -0.00373883026453237 -0.00476603135371623 NA NA 0.987072688349061 0.956736117830261 -0.0042524308091243 NA NA NA FALSE 0.992 1.239 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA TTG T,A 2.471e-05 16:20360594 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 stop_gained 10.335863 0.87907 0.67956 0.487112 0.986462532722296 0 9.26418194186399e-06 FALSE 3.65556e-05 ENSE00001143197_013 ENSE00001143197 013 16 20371855 20372024 - 35 90 45 C A 20371924 1231 101 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGATTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360601 20360602 20360602 exon -35 0.622222222222222 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAATCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 676 1507 0.946448833740418 0.998057351046726 0.972253092393572 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0245778520699013 0.00645609705672112 0.987072688349061 0.956736117830261 NA 0.0155169745633112 NA FALSE NA 0.076 -0.153 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA GCT C,A 8.236e-06 16:20360602 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant 2.087026 0.84123 0.18606 0.487112 0.923142256200487 0 9.26418194186399e-06 FALSE 4.062e-06 ENSE00001143197_014 ENSE00001143197 014 16 20371855 20372024 - 35 90 45 C T 20371929 1232 96 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCTAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360606 20360607 20360607 exon -40 0.566666666666667 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTAGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 815 336 1 1 1 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0781290183294833 0.00839874600999502 0.987072688349061 0.956736117830261 NA 0.0432638821697391 NA FALSE NA 1 1.033 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA CCA C,T 8.236e-06 16:20360607 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 synonymous_variant 1.424582 0.92223 0.68403 0.487112 0.736077808074689 0 9.26418194186399e-06 FALSE 4.06207e-06 ENSE00001143197_016 ENSE00001143197 016 16 20371855 20372024 - 35 90 45 C T 20371946 1234 79 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCTCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360623 20360624 20360624 exon 34 0.377777777777778 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGAGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 956 64 1 0.969547611472694 0.984773805736347 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0781290183294833 -0.0220536425173108 0.987072688349061 0.956736117830261 NA 0.0280376879060862 NA FALSE NA 0.39 2.078 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA CCC C,T 8.236e-06 16:20360624 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant 3.726153 0.92923 0.50338 0.487112 0.987881985511626 0 9.26418194186399e-06 FALSE 4.06237e-06 ENSE00001143197_017 ENSE00001143197 017 16 20371855 20372024 - 35 90 45 G T 20371953 1235 72 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGTGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360630 20360631 20360631 exon 27 0.3 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACACTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 1131 1874 0.998069058756634 0.914941351077754 0.956505204917194 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0761980770861176 -0.0766599029122514 0.987072688349061 0.956736117830261 NA -0.000230912913066927 NA FALSE NA 0.002 -0.468 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA GGG G,T 8.236e-06 16:20360631 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 synonymous_variant -1.07861 0.17928 0.03548 0.487112 0.607960483886258 0 9.26418194186399e-06 FALSE 4.06246e-06 ENSE00001143197_018 ENSE00001143197 018 16 20371855 20372024 - 35 90 45 G C 20371954 1236 71 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGCTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360631 20360632 20360632 exon 26 0.288888888888889 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACAGCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 1200 1050 0.994590807525254 0.997193248273098 0.995892027899176 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0727198258547377 0.00559199428309343 0.987072688349061 0.956736117830261 NA 0.0391559100689156 NA FALSE NA 0.964 1.794 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:20360632 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant 1.710705 0.92682 0.79335 0.487112 0.992813392231201 0 9.26418194186399e-06 FALSE 8.12506e-06 ENSE00001143197_019 ENSE00001143197 019 16 20371855 20372024 - 35 90 45 G A 20371954 1237 71 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGATGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360631 20360632 20360632 exon 26 0.288888888888889 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACATCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 1006 516 0.9992613210073 0.999926212646411 0.999593766826855 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.077390339336783 0.00832495865640603 0.987072688349061 0.956736117830261 NA 0.0428576489965945 NA FALSE NA 0.964 1.794 NA NA NA UMOD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDILT NA NA NA ENSG00000169340 ENSE00001143197 missense_variant 4.852116 0.92365 0.79872 0.487112 0.997968219857595 0 9.26418194186399e-06 FALSE 4.06253e-06 ENSE00001143197_020 ENSE00001143197 020 16 20371855 20372024 - 35 90 45 T C 20371969 1238 56 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTACACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360646 20360647 20360647 exon 11 0.122222222222222 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTGTAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 972 405 0.995896994742698 0.999609300421727 0.997753147582212 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0740260130721808 0.00800804643172215 0.987072688349061 0.956736117830261 NA 0.0410170297519515 NA FALSE NA 0.956 4.166 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA ATA T,C 8.236e-06 16:20360647 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant 3.91895 0.39029 0.76947 0.487112 0.989842798200639 0 9.26418194186399e-06 FALSE 8.12658e-06 ENSE00001143197_021 ENSE00001143197 021 16 20371855 20372024 - 35 90 45 A G 20371970 1239 55 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATGCAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360647 20360648 20360648 exon 10 0.111111111111111 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGCATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 47 144 1 0.998900126957284 0.999450063478642 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0781290183294833 0.00729887296727882 0.987072688349061 0.956736117830261 NA 0.042713945648381 NA FALSE NA 0.956 4.8 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 rs556126607 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAC A,G 8.236e-06 16:20360648 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant 4.088582 0.39946 0.83713 0.487112 0.995095833403214 0 9.26418194186399e-06 FALSE 4.06388e-06 ENSE00001143197_022 ENSE00001143197 022 16 20371855 20372024 - 35 90 45 A C 20371972 1240 53 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACCGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360649 20360650 20360650 exon 8 0.0888888888888889 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCGGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant 12 12 0.996842245581267 0.998333544178411 0.997587894879839 254 179 1 1 1 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 0.0158062446431637 0.00522416841839157 0.0781290183294833 0.00839874600999502 0.987072688349061 0.956736117830261 0.0105152065307776 0.0432638821697391 0.0327486756389615 FALSE FALSE 0 -0.772 rs4500734 upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 rs4500734 1 C:0.0172 C:0.031 C:0.0115 NA C:0.002 C:0.0149 C:0.0204 C:0.0388 C:0.0166 CAG A,C 0.018 16:20360650 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 missense_variant -0.687169 0.15557 0.05656 0.487112 0.626327308323827 0 9.26418194186399e-06 FALSE 0.0181166 ENSE00001143197_023 ENSE00001143197 023 16 20371855 20372024 - 35 90 45 G A 20371983 1241 42 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAAGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360660 20360661 20360661 upstr_intron -4 -0.0666666666666667 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCTTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant 18 13 1 0.996341730253406 0.998170865126703 187 487 1 0.997065935164733 0.998532967582367 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 0.0189639990618968 0.00323235449338699 0.0781290183294833 0.0054646811747282 0.987072688349061 0.956736117830261 0.0110981767776419 0.0417968497521057 0.0306986729744638 FALSE FALSE 0.973 2.143 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA AGG G,A 8.237e-06 16:20360661 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 splice_region_variant 0.509992 0.31959 0.57008 0.061011 0.760682521022043 0.118669 9.26418194186399e-06 FALSE 8.13974e-06 ENSE00001143197_024 ENSE00001143197 024 16 20371855 20372024 - 35 90 45 G T 20371984 1242 41 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGTATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360661 20360662 20360662 upstr_intron -5 -0.0888888888888889 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATACTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 118 589 0.989426277671335 0.997038398107805 0.99323233788957 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0675552960008186 0.00543714411780027 0.987072688349061 0.956736117830261 NA 0.0364962200593094 NA FALSE NA 0.806 0.151 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA GGA G,T 4.118e-05 16:20360662 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 splice_region_variant 0.200245 0.19523 0.3124 0.061011 0.776804185801787 0.118669 9.26418194186399e-06 FALSE 4.47631e-05 ENSE00001143197_025 ENSE00001143197 025 16 20371855 20372024 - 35 90 45 A G 20371985 1243 40 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGGTGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360662 20360663 20360663 upstr_intron -6 -0.111111111111111 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCACCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 296 323 0.999162809901145 1 0.999581404950572 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0772918282306281 0.00839874600999502 0.987072688349061 0.956736117830261 NA 0.0428452871203115 NA FALSE NA 0.565 0.572 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA GAT A,G 1.647e-05 16:20360663 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 splice_region_variant 0.353725 0.22761 0.15519 0.061011 0.741570969423098 0.118669 9.26418194186399e-06 FALSE 8.13868e-06 ENSE00001143197_026 ENSE00001143197 026 16 20371855 20372024 - 35 90 45 T C 20371992 1244 33 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAACGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 20360669 20360670 20360670 upstr_intron -13 -0.266666666666667 GCGGGAAGAGGATCCCATCCTGACCCTGTTCCGTTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 243 581 1 0.997606503349716 0.998803251674858 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0781290183294833 0.0060052493597107 0.987072688349061 0.956736117830261 NA 0.042067133844597 NA FALSE NA 0 -1.09 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 1 NA ATG T,C 8.237e-06 16:20360670 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 intron_variant 0.825953 0.12219 0.00243 0.061011 0.674788354948497 0.110126 9.26418194186399e-06 FALSE 4.07093e-06 ENSE00001143197_029 ENSE00001143197 029 16 20371855 20372024 - 35 90 45 T C 20372008 1247 17 ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTACCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCCTAGGATGAAAATGGAACAGGGTCAGGACGGGATCCTCTTCCCGC 20360532 20360702 20360685 20360686 20360686 upstr_intron -29 -0.622222222222222 GCGGGAAGAGGATCCCGTCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT mutant NA NA NA NA NA 64 336 1 0.992031787248164 0.996015893624082 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 NA NA 0.0781290183294833 0.000430533258159449 0.987072688349061 0.956736117830261 NA 0.0392797757938214 NA FALSE NA 0 -2.206 . upstream_gene_variant MODIFIER UMOD HGNC 12559 ENST00000570689 rs369519877 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 ATG T,C 2.471e-05 16:20360686 PDILT HGNC Symbol protein_coding 45567 ENSG00000169340 ENSE00001143197 intron_variant 0.617359 0.14927 0.01335 0.061011 0.699468416486875 0.133959 9.26418194186399e-06 FALSE 2.04242e-05 ENSE00001143197_BRK ENSE00001143197 BRK 16 20371855 20372024 - 35 90 45 A,G; T,T NA NA NA ACAGAATAATTCAGAGTATTTCTGTTGCCCCTTGGCTCATCCTCATCCTCAATCTTAGTTTTGATGTGGCTTTCCAGGAAGTCAGAGAAGCCCTTCAGGGTGTGTTCTCCCTTATACAGGACAGCAAAGGATGAAAATGGAACAGGGTCAGGATGGGATCCTCTTCCCGC 20360532 20360702 NA NA NA NA NA NA GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTTTGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGCCAAGGGGCAACAGAAATACTCTGAATTATTCTGT GCGGGAAGAGGATCCCATCCTGACCCTGTTCCATTTTCATCCTAGGCTGTCCTGTATAAGGGAGAACACACCCTGAAGGGCTTCTCTGACTTCCTGGAAAGCCACATCAAAACTAAGATTGAGGATGAGGATGAGGTAAGGGGCAACAGAAATACTCTGAATTATTCTGT control 173 97 0 0 0 394 94 0 0 0 0.981036000938103 0.993109375760019 0.921870981670517 0.991601253990005 -0.981036000938103 -0.993109375760019 -0.921870981670517 -0.991601253990005 0.987072688349061 0.956736117830261 -0.987072688349061 -0.956736117830261 0.0303365705188001 TRUE TRUE NA NA NA NA NA UMOD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDILT NA NA NA ENSG00000169340 ENSE00001143197 NA NA NA NA NA NA NA 9.26418194186399e-06 FALSE NA ENSE00001143328_000 ENSE00001143328 000 1 94473743 94473912 - 48 63 59 NA NA NA NA NA TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCGAACATCAGCTCT 94008186 94008356 NA NA NA NA NA NA TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCGAACATCAGCTCT TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCGAACATCAGCTCT natural NA NA NA NA NA 1153 711 0.93247307953322 0.985095729902157 0.958784404717688 NA NA 0.93247307953322 0.985095729902157 NA NA 0 0 NA 0.958784404717688 NA 0 NA FALSE NA NA NA NA NA NA ABCA4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCA4 NA NA NA ENSG00000198691 ENSE00003480149 NA NA NA NA NA NA NA 1.26762782980402e-28 FALSE NA ENSE00001143328_001 ENSE00001143328 001 1 94473743 94473912 - 48 63 59 C T 94473755 2571 158 TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCAAACATCAGCTCT 94008186 94008356 94008198 94008199 94008199 downstr_intron 36 1.76595744680851 TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCAAACATCAGCTCT TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCGAACATCAGCTCT mutant NA NA NA NA NA 1091 60 0.99901510971576 1 0.99950755485788 NA NA 0.93247307953322 0.985095729902157 NA NA 0.0665420301825398 0.0149042700978432 NA 0.958784404717688 NA 0.0407231501401915 NA FALSE NA 0.001 0.776 . intron_variant MODIFIER ABCA4 HGNC 34 ENST00000536513 7/14 1 NA TCG C,T 8.236e-06 1:94008199 ABCA4 HGNC Symbol protein_coding 128297 ENSG00000198691 ENSE00003480149 intron_variant 0.21297 0.21054 0.09789 0.06567 0.465645560359369 0.0821837 1.26762782980402e-28 FALSE 1.22127e-05 ENSE00001143328_002 ENSE00001143328 002 1 94473743 94473912 - 48 63 59 G A 94473756 2572 157 TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCTGAACATCAGCTCT 94008186 94008356 94008199 94008200 94008200 downstr_intron 35 1.74468085106383 TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCTGAACATCAGCTCT TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCGAACATCAGCTCT mutant NA NA NA NA NA 22 69 0.911277151978918 1 0.955638575989459 NA NA 0.93247307953322 0.985095729902157 NA NA -0.0211959275543014 0.0149042700978432 NA 0.958784404717688 NA -0.00314582872822911 NA FALSE NA 0 -2.584 . intron_variant MODIFIER ABCA4 HGNC 34 ENST00000536513 7/14 rs373000140 1 NA A:0.0002 A:0 CGG G,A 2.471e-05 1:94008200 ABCA4 HGNC Symbol protein_coding 128297 ENSG00000198691 ENSE00003480149 intron_variant -0.574902 0.0811 0.0076 0.06567 0.62171303686389 0.0821837 1.26762782980402e-28 FALSE 8.1363e-06 ENSE00001143328_005 ENSE00001143328 005 1 94473743 94473912 - 48 63 59 C T 94473770 2575 143 TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACATGTGAAAGGCTTCCGAACATCAGCTCT 94008186 94008356 94008213 94008214 94008214 downstr_intron 21 1.4468085106383 TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACATGTGAAAGGCTTCCGAACATCAGCTCT TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCGAACATCAGCTCT mutant NA NA NA NA NA 11 117 0.996197634405665 1 0.998098817202832 NA NA 0.93247307953322 0.985095729902157 NA NA 0.0637245548724451 0.0149042700978432 NA 0.958784404717688 NA 0.0393144124851442 NA FALSE NA 0 -2.934 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:94008214 ABCA4 HGNC Symbol protein_coding 128297 ENSG00000198691 ENSE00003480149 intron_variant 0.105146 0.15739 0.00841 0.06567 0.735929514394273 0.175862 1.26762782980402e-28 FALSE 2.0312e-05 ENSE00001143328_006 ENSE00001143328 006 1 94473743 94473912 - 48 63 59 C G 94473770 2576 143 TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACCTGTGAAAGGCTTCCGAACATCAGCTCT 94008186 94008356 94008213 94008214 94008214 downstr_intron 21 1.4468085106383 TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACCTGTGAAAGGCTTCCGAACATCAGCTCT TTCCCCTCCTTGCTCTCACCCTGTCTCAGTTCTCAGTCCGGTTTCTTCGTATCTTGCAGATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAGGTGGGTACTCTGCAGACCACGTGTGAAAGGCTTCCGAACATCAGCTCT mutant NA NA NA NA NA 170 725 1 0.998730152593086 0.999365076296543 NA NA 0.93247307953322 0.985095729902157 NA NA 0.0675269204667802 0.0136344226909293 NA 0.958784404717688 NA 0.0405806715788548 NA FALSE NA 0 -2.934 NA NA NA ABCA4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCA4 NA NA NA ENSG00000198691 ENSE00003480149 intron_variant -0.098518 0.21455 0.02521 0.06567 0.712535054829019 0.175862 1.26762782980402e-28 FALSE 4.0624e-06 ENSE00001143350_000 ENSE00001143350 000 21 31027077 31027246 - 53 54 63 NA NA NA NA NA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 NA NA NA NA NA NA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA natural NA NA NA NA NA 2210 2384 0.998152051320265 0.994589805475799 0.996370928398032 NA NA 0.998152051320265 0.994589805475799 NA NA 0 0 NA 0.996370928398032 NA 0 NA FALSE NA NA NA NA NA NA GRIK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIK1 NA NA NA ENSG00000171189 ENSE00003504657 NA NA NA NA NA NA NA 3.20558900258698e-05 FALSE NA ENSE00001143350_009 ENSE00001143350 009 21 31027077 31027246 - 53 54 63 T C 31027155 48 92 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTGCTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 29654834 29654835 29654835 exon -26 0.537037037037037 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTGCTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA mutant NA NA NA NA NA 519 316 0.998644155127791 1 0.999322077563896 NA NA 0.998152051320265 0.994589805475799 NA NA 0.000492103807526179 0.00541019452420088 NA 0.996370928398032 NA 0.00295114916586353 NA FALSE NA 1 5.793 rs190228966 missense_variant MODERATE GRIK1 HGNC 4579 ENST00000327783 5/18 rs190228966 1 deleterious(0) probably_damaging(0.995) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 GTA T,C 8.236e-06 21:29654835 GRIK1 HGNC Symbol protein_coding 403100 ENSG00000171189 ENSE00003504657 missense_variant 4.929216 0.99264 0.98004 0.554377 0.998507654832206 0 3.20558900258698e-05 FALSE 4.06256e-06 ENSE00001143350_010 ENSE00001143350 010 21 31027077 31027246 - 53 54 63 G A 31027160 49 87 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACTGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 29654839 29654840 29654840 exon 24 0.444444444444444 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACTGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA mutant NA NA NA NA NA 69 31 1 1 1 NA NA 0.998152051320265 0.994589805475799 NA NA 0.00184794867973481 0.00541019452420088 NA 0.996370928398032 NA 0.00362907160196785 NA FALSE NA 0 -2.896 . synonymous_variant LOW GRIK1 HGNC 4579 ENST00000327783 5/18 1 NA CGG G,A 8.236e-06 21:29654840 GRIK1 HGNC Symbol protein_coding 403100 ENSG00000171189 ENSE00003504657 synonymous_variant 1.771985 0.69125 0.03445 0.554377 0.642403454265155 0 3.20558900258698e-05 FALSE 4.06303e-06 ENSE00001143350_012 ENSE00001143350 012 21 31027077 31027246 - 53 54 63 A T 31027176 51 71 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTACATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 29654855 29654856 29654856 exon 8 0.148148148148148 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTACATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA mutant NA NA NA NA NA 694 249 0.999584167468066 0.973029757258959 0.986306962363512 NA NA 0.998152051320265 0.994589805475799 NA NA 0.00143211614780037 -0.0215600482168402 NA 0.996370928398032 NA -0.0100639660345199 NA FALSE NA 1 4.993 . missense_variant MODERATE GRIK1 HGNC 4579 ENST00000327783 5/18 rs376907880 1 tolerated(0.2) benign(0.233) NA T:0.0002 T:0 GAA A,T 8.236e-06 21:29654856 GRIK1 HGNC Symbol protein_coding 403100 ENSG00000171189 ENSE00003504657 missense_variant 2.796705 0.98637 0.94145 0.487112 0.841844620417604 0 3.20558900258698e-05 FALSE 4.06352e-06 ENSE00001143350_015 ENSE00001143350 015 21 31027077 31027246 - 53 54 63 T A 31027183 54 64 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGTTTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 29654862 29654863 29654863 exon 1 0.0185185185185185 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGTTTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA mutant NA NA NA NA NA 72 69 1 1 1 NA NA 0.998152051320265 0.994589805475799 NA NA 0.00184794867973481 0.00541019452420088 NA 0.996370928398032 NA 0.00362907160196785 NA FALSE NA 1 1.932 . missense_variant&splice_region_variant MODERATE GRIK1 HGNC 4579 ENST00000327783 5/18 1 tolerated(0.07) possibly_damaging(0.653) NA ATC T,A 8.236e-06 21:29654863 GRIK1 HGNC Symbol protein_coding 403100 ENSG00000171189 ENSE00003504657 missense_variant 3.276271 0.98405 0.91773 0.487112 0.964723601645126 0 3.20558900258698e-05 FALSE 8.12955e-06 ENSE00001143350_017 ENSE00001143350 017 21 31027077 31027246 - 53 54 63 A G 31027197 56 50 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTACTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 29654876 29654877 29654877 upstr_intron -14 -0.206349206349206 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTACTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA mutant NA NA NA NA NA 313 47 0.983435639014454 1 0.991717819507227 NA NA 0.998152051320265 0.994589805475799 NA NA -0.0147164123058108 0.00541019452420088 NA 0.996370928398032 NA -0.00465310889080495 NA FALSE NA 0.89 1.988 . intron_variant MODIFIER GRIK1 HGNC 4579 ENST00000327783 4/17 1 NA AAT A,G 8.236e-06 21:29654877 GRIK1 HGNC Symbol protein_coding 403100 ENSG00000171189 ENSE00003504657 intron_variant 1.276546 0.98221 0.90776 0.053691 0.800319145647242 0.634745 3.20558900258698e-05 FALSE 4.06795e-06 ENSE00001143350_019 ENSE00001143350 019 21 31027077 31027246 - 53 54 63 G T 31027208 58 39 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTATTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 29654887 29654888 29654888 upstr_intron -25 -0.380952380952381 GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTATTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA mutant NA NA NA NA NA 76 15 1 1 1 NA NA 0.998152051320265 0.994589805475799 NA NA 0.00184794867973481 0.00541019452420088 NA 0.996370928398032 NA 0.00362907160196785 NA FALSE NA 0.007 2.302 . intron_variant MODIFIER GRIK1 HGNC 4579 ENST00000327783 4/17 1 NA AGA G,T 8.236e-06 21:29654888 GRIK1 HGNC Symbol protein_coding 403100 ENSG00000171189 ENSE00003504657 intron_variant 0.117041 0.26009 0.63858 0.053691 0.689741114989159 0.0529324 3.20558900258698e-05 FALSE 4.07442e-06 ENSE00001143350_020 ENSE00001143350 020 21 31027077 31027246 - 53 54 63 G T 31027215 59 32 GAAATTATCCCATTCTTATTATAATTCTGTTACTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 29654894 29654895 29654895 upstr_intron -32 -0.492063492063492 GAAATTATCCCATTCTTATTATAATTCTGTTACTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA mutant NA NA NA NA NA 81 39 1 1 1 NA NA 0.998152051320265 0.994589805475799 NA NA 0.00184794867973481 0.00541019452420088 NA 0.996370928398032 NA 0.00362907160196785 NA FALSE NA 0.55 0.905 . intron_variant MODIFIER GRIK1 HGNC 4579 ENST00000327783 4/17 1 NA GGA G,T 8.236e-06 21:29654895 GRIK1 HGNC Symbol protein_coding 403100 ENSG00000171189 ENSE00003504657 intron_variant 0.613283 0.24103 0.02233 0.053691 0.75817895993551 0.0536794 3.20558900258698e-05 FALSE 4.08137e-06 ENSE00001143350_022 ENSE00001143350 022 21 31027077 31027246 - 53 54 63 A T 31027233 61 14 GAAATTATCCCATACTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA 29654756 29654926 29654912 29654913 29654913 upstr_intron -50 -0.777777777777778 GAAATTATCCCATACTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA GAAATTATCCCATTCTTATTATAATTCTGTTCCTGATTCTTTCCCCTTATTTCTCTTTTGCAGATTCTGTTCATGGGCATGATGACCGAGTACTATCACTACTTTTTCACAACCCTGGTAAGTGCATCTGGGAGAAATGTATTCCACATGGTAGGAAACGTCTTCACACA mutant NA NA NA NA NA 152 70 1 1 1 NA NA 0.998152051320265 0.994589805475799 NA NA 0.00184794867973481 0.00541019452420088 NA 0.996370928398032 NA 0.00362907160196785 NA FALSE NA 0.003 0.822 NA NA NA GRIK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:29654913 GRIK1 HGNC Symbol protein_coding 403100 ENSG00000171189 ENSE00003504657 intron_variant 0.611196 0.29618 0.06048 0.078448 0.790823298281928 0.046323 3.20558900258698e-05 FALSE 7.3942e-05 ENSE00001144033_000 ENSE00001144033 000 1 43217913 43218082 - 32 96 42 NA NA NA NA NA AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 NA NA NA NA NA NA AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG natural 196 138 0.990250164885895 0.998104441586547 0.994177303236221 3631 4308 0.92697032496828 0.980333363185558 0.953651844076919 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0 0 0 0 0.994177303236221 0.953651844076919 0 0 0 FALSE FALSE NA NA NA NA NA LEPRE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P3H1 NA NA NA ENSG00000117385 ENSE00003574659 NA NA NA NA NA NA NA NA NA NA ENSE00001144033_001 ENSE00001144033 001 1 43217913 43218082 - 32 96 42 C G 43217930 1628 153 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTCGGCATTCTAGAGTGTGG 42752241 42752411 42752258 42752259 42752259 downstr_intron 15 1.48387096774194 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTCGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 83 42 0.849374794647826 0.988343344406303 0.918859069527064 96 543 1 0.997580897311758 0.998790448655879 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 -0.140875370238069 -0.00976109718024476 0.07302967503172 0.0172475341262003 0.994177303236221 0.953651844076919 -0.075318233709157 0.0451386045789601 0.120456838288117 FALSE FALSE 0 -0.143 . intron_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/3 1 NA CCA C,G 8.236e-06 1:42752259 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 intron_variant -0.391276 0.10619 0.01965 0.295142 0.540967001691244 0.0851235 NA NA 8.12473e-06 ENSE00001144033_002 ENSE00001144033 002 1 43217913 43218082 - 32 96 42 A G 43217931 1629 152 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACCGGGCATTCTAGAGTGTGG 42752241 42752411 42752259 42752260 42752260 downstr_intron 14 1.45161290322581 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACCGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 20 17 0.99262205074625 0.976531070402567 0.984576560574409 90 751 0.997830200118166 0.999738581396077 0.998784390757122 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00237188586035575 -0.0215733711839806 0.0708598751498863 0.019405218210519 0.994177303236221 0.953651844076919 -0.00960074266181243 0.0451325466802027 0.0547332893420151 FALSE FALSE 0 0.933 . intron_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/3 1 NA CAG A,G 8.236e-06 1:42752260 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 intron_variant 0.321171 0.18943 0.15458 0.295142 0.738194563352075 0.0851235 NA NA 4.06233e-06 ENSE00001144033_003 ENSE00001144033 003 1 43217913 43218082 - 32 96 42 C A 43217940 1630 143 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAATATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752268 42752269 42752269 downstr_intron 5 1.16129032258065 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAATATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 37 37 0.85 0.85 0.85 73 1374 0.984265185042921 0.963462799991622 0.973863992517272 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 -0.140250164885895 -0.148104441586547 0.057294860074641 -0.0168705631939361 0.994177303236221 0.953651844076919 -0.144177303236221 0.0202121484403525 0.164389451676574 FALSE FALSE 0 0.513 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW LEPRE1 HGNC 19316 ENST00000481465 3/3 COSM3700733&COSM3700734&COSM3700735 1 NA TCT C,A 1.647e-05 1:42752269 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 splice_region_variant 1.129341 0.28593 0.09021 0.295142 0.741734801630529 0.163612 NA NA 1.21852e-05 ENSE00001144033_004 ENSE00001144033 004 1 43217913 43218082 - 32 96 42 T C 43217942 1631 141 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTGAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752270 42752271 42752271 downstr_intron 3 1.09677419354839 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTGAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant NA NA NA NA NA 343 250 0.999277883071626 1 0.999638941535813 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 NA NA 0.0723075581033458 0.0196666368144419 0.994177303236221 0.953651844076919 NA 0.0459870974588938 NA FALSE NA 0.83 1.139 rs76871760 splice_region_variant&intron_variant&non_coding_transcript_variant LOW LEPRE1 HGNC 19316 ENST00000481465 3/3 rs76871760 1 C:0.0176 C:0.0643 C:0.0043 NA C:0 C:0 C:0 C:0.0433 C:0.0001 TTA T,C 0.004604 1:42752271 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 splice_region_variant 1.22375 0.86051 0.85233 0.295142 0.808950633620575 0.838222 NA NA 0.00378126 ENSE00001144033_005 ENSE00001144033 005 1 43217913 43218082 - 32 96 42 C T 43217944 1632 139 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGATAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752272 42752273 42752273 downstr_intron 1 1.03225806451613 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGATAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 757 111 0.0121270207601866 0.171038221000113 0.0915826208801496 137 571 0.0989792196603544 0.0152977402088149 0.0571384799345847 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 -0.978123144125708 -0.827066220586435 -0.827991105307926 -0.965035622976743 0.994177303236221 0.953651844076919 -0.902594682356072 -0.896513364142334 0.00608131821373714 TRUE TRUE 1 7.317 . splice_donor_variant&non_coding_transcript_variant HIGH LEPRE1 HGNC 19316 ENST00000481465 3/3 rs369651701 1 NA T:0.0002 T:0 ACC C,T 8.236e-06 1:42752273 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 splice_donor_variant 5.581705 0.99315 0.99412 0.295142 0.995446788668929 0.985011 NA NA 4.06147e-06 ENSE00001144033_006 ENSE00001144033 006 1 43217913 43218082 - 32 96 42 G A 43217950 1633 133 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCTTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752278 42752279 42752279 exon -6 0.947916666666667 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCTTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 15 42 1 0.990527451206536 0.995263725603268 290 57 0.98977803711699 1 0.994889018558495 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00974983511410532 -0.00757699038001192 0.0628077121487103 0.0196666368144419 0.994177303236221 0.953651844076919 0.0010864223670467 0.0412371744815761 0.0401507521145294 FALSE FALSE 1 3.987 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA AGG G,A 8.236e-06 1:42752279 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 4.919724 0.97766 0.95751 0.706548 0.998864955706174 0 NA NA 4.06128e-06 ENSE00001144033_007 ENSE00001144033 007 1 43217913 43218082 - 32 96 42 T C 43217954 1634 129 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAGGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752282 42752283 42752283 exon -10 0.90625 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAGGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 47 29 0.989801651873827 0.992159711575461 0.990980681724644 748 165 0.996713605593743 0.999040288542755 0.997876947068248 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 -0.00044851301206783 -0.00594473001108664 0.0697432806254625 0.0187069253571964 0.994177303236221 0.953651844076919 -0.00319662151157724 0.0442251029913295 0.0474217245029067 FALSE FALSE 1 0.936 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA CTT T,C 8.237e-06 1:42752283 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 synonymous_variant 0.932241 0.96029 0.68502 0.706548 0.853850097465609 0 NA NA 4.06118e-06 ENSE00001144033_008 ENSE00001144033 008 1 43217913 43218082 - 32 96 42 T C 43217955 1635 128 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAGAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752283 42752284 42752284 exon -11 0.895833333333333 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAGAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant NA NA NA NA NA 1151 305 1 1 1 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 NA NA 0.07302967503172 0.0196666368144419 0.994177303236221 0.953651844076919 NA 0.0463481559230809 NA FALSE NA 1 3.076 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA TTT T,C 8.236e-06 1:42752284 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 2.525473 0.97306 0.9487 0.706548 0.998127342144367 0 NA NA 2.03057e-05 ENSE00001144033_009 ENSE00001144033 009 1 43217913 43218082 - 32 96 42 A C 43217972 1636 111 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTAGGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752300 42752301 42752301 exon -28 0.71875 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTAGGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 18 26 0.998993621268321 1 0.999496810634161 NA NA NA NA NA 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00874345638242646 0.00189555841345257 NA NA 0.994177303236221 0.953651844076919 0.00531950739793952 NA NA NA FALSE 0.047 -0.539 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA CAT A,C 8.236e-06 1:42752301 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 stop_gained 10.454884 0.93921 0.21 0.706548 0.99389402404777 0 NA NA 4.06101e-06 ENSE00001144033_011 ENSE00001144033 011 1 43217913 43218082 - 32 96 42 T C 43217981 1638 102 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAGAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752309 42752310 42752310 exon -37 0.625 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAGAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 37 15 0.991934995766236 0.997514124937515 0.994724560351876 534 579 1 0.999726755176649 0.999863377588325 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00168483088034177 -0.000590316649032752 0.07302967503172 0.0193933919910914 0.994177303236221 0.953651844076919 0.000547257115654509 0.0462115335114057 0.0456642763957512 FALSE FALSE 0.924 0.052 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA TTT T,C 2.471e-05 1:42752310 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 synonymous_variant 0.234661 0.83065 0.19461 0.706548 0.762030671765468 0 NA NA 2.43657e-05 ENSE00001144033_014 ENSE00001144033 014 1 43217913 43218082 - 32 96 42 T C 43217985 1641 98 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAGTGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752313 42752314 42752314 exon -41 0.583333333333333 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAGTGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant NA NA NA NA NA 61 25 0.999323394012124 0.992006808204523 0.995665101108323 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 NA NA 0.0723530690438438 0.0116734450189645 0.994177303236221 0.953651844076919 NA 0.0420132570314041 NA FALSE NA 0.025 0.249 rs149894086 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 rs149894086 1 C:0.0020 C:0.0076 C:0 NA C:0 C:0 C:0 C:0.003 C:0 ATT T,C 0.0003295 1:42752314 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 0.391871 0.13891 0.01886 0.706548 0.929285039857977 0 NA NA 0.000263962 ENSE00001144033_015 ENSE00001144033 015 1 43217913 43218082 - 32 96 42 G T 43217988 1642 95 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCACAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752316 42752317 42752317 exon -44 0.552083333333333 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCACAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 11 14 1 0.998004686483194 0.999002343241597 221 313 1 0.994203524433208 0.997101762216604 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00974983511410532 -9.97551033534716e-05 0.07302967503172 0.0138701612476498 0.994177303236221 0.953651844076919 0.00482504000537592 0.0434499181396849 0.038624878134309 FALSE FALSE 1 7.323 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 rs375305175 1 NA T:0 T:0.0001 GGG G,T 8.236e-06 1:42752317 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 5.951139 0.96507 0.98624 0.706548 0.996142065148716 0 NA NA 1.62442e-05 ENSE00001144033_016 ENSE00001144033 016 1 43217913 43218082 - 32 96 42 G T 43217991 1643 92 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATAATCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752319 42752320 42752320 exon -47 0.520833333333333 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATAATCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant NA NA NA NA NA 57 326 0.974877124982149 1 0.987438562491075 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 NA NA 0.047906800013869 0.0196666368144419 0.994177303236221 0.953651844076919 NA 0.0337867184141555 NA FALSE NA 1 9.262 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA AGT G,T 8.236e-06 1:42752320 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 5.848514 0.99336 0.99664 0.706548 0.993345954990664 0 NA NA 8.12209e-06 ENSE00001144033_017 ENSE00001144033 017 1 43217913 43218082 - 32 96 42 G C 43217997 1644 86 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCGACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752325 42752326 42752326 exon 44 0.458333333333333 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCGACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 30 12 0.997336065831241 1 0.998668032915621 NA NA NA NA NA 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00708590094534634 0.00189555841345257 NA NA 0.994177303236221 0.953651844076919 0.00449072967939945 NA NA NA FALSE 1 9.262 rs3738501 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 rs3738501 1 C:0.0012 C:0 C:0 NA C:0.006 C:0 C:0 TGG G,C 0.0004118 1:42752326 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 5.983462 0.99348 0.99681 0.706548 0.998202510622757 0 NA NA 0.000353314 ENSE00001144033_018 ENSE00001144033 018 1 43217913 43218082 - 32 96 42 G T 43218002 1645 81 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACATCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752330 42752331 42752331 exon 39 0.40625 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACATCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 94 99 0.977621994888854 0.979024480072095 0.978323237480474 597 295 0.92032095790578 1 0.96016047895289 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 -0.0126281699970409 -0.0190799615144523 -0.00664936706250041 0.0196666368144419 0.994177303236221 0.953651844076919 -0.0158540657557466 0.00650863487597075 0.0223627006317174 FALSE FALSE 0.818 -0.225 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA AGG G,T 8.236e-06 1:42752331 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 synonymous_variant 0.901713 0.96505 0.81671 0.706548 0.756503834103058 0 NA NA 4.06105e-06 ENSE00001144033_019 ENSE00001144033 019 1 43217913 43218082 - 32 96 42 C G 43218010 1646 73 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGCGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752338 42752339 42752339 exon 31 0.322916666666667 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGCGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 42 34 1 0.998460417371644 0.999230208685822 1484 138 0.999805718749373 0.998852233772303 0.999328976260838 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00974983511410532 0.000355975785096274 0.0728353937810934 0.0185188705867454 0.994177303236221 0.953651844076919 0.0050529054496008 0.0456771321839194 0.0406242267343186 FALSE FALSE 1 7.317 rs139259804 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 rs139259804 1 G:0.0006 G:0.0008 G:0 NA G:0 G:0.002 G:0 G:0.0009 G:0.0014 CCC C,G 0.0008813 1:42752339 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 7.127172 0.99207 0.99457 0.706548 0.999299487856027 0 NA NA 0.000921902 ENSE00001144033_020 ENSE00001144033 020 1 43217913 43218082 - 32 96 42 C T 43218012 1647 71 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCAGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752340 42752341 42752341 exon 29 0.302083333333333 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCAGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 44 16 0.992904855842641 0.979778204219926 0.986341530031283 4408 114 0.98351707875571 1 0.991758539377855 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.0026546909567462 -0.0183262373666216 0.05654675378743 0.0196666368144419 0.994177303236221 0.953651844076919 -0.00783577320493772 0.038106695300936 0.0459424685058737 FALSE FALSE 1 7.317 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 rs557547513 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CCG C,T 2.471e-05 1:42752341 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 6.33095 0.98292 0.98721 0.706548 0.999503421896413 0 NA NA 2.84308e-05 ENSE00001144033_021 ENSE00001144033 021 1 43217913 43218082 - 32 96 42 G A 43218013 1648 70 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACTGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752341 42752342 42752342 exon 28 0.291666666666667 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACTGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 155 141 0.944325375539223 0.957271988325549 0.950798681932386 171 670 0.9997590884464 0.936014368988758 0.967886728717579 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 -0.0459247893466712 -0.0408324532609985 0.0727887634781204 -0.0443189941967999 0.994177303236221 0.953651844076919 -0.0433786213038349 0.0142348846406603 0.0576135059444951 FALSE FALSE 1 5.649 rs115108794 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 rs115108794 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.01 A:0.0001 CGG G,A 0.0007248 1:42752342 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 7.702448 0.97745 0.97299 0.706548 0.998853618082953 0 NA NA 0.000536119 ENSE00001144033_022 ENSE00001144033 022 1 43217913 43218082 - 32 96 42 T C 43218021 1649 62 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGGTGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752349 42752350 42752350 exon 20 0.208333333333333 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGGTGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 35 29 1 1 1 352 543 0.998254025794314 1 0.999127012897157 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00974983511410532 0.00189555841345257 0.0712837008260339 0.0196666368144419 0.994177303236221 0.953651844076919 0.00582269676377895 0.0454751688202379 0.0396524720564589 FALSE FALSE 1 7.523 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA ATC T,C 1.647e-05 1:42752350 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 6.789237 0.98942 0.99278 0.706548 0.998554781433901 0 NA NA 8.12288e-06 ENSE00001144033_023 ENSE00001144033 023 1 43217913 43218082 - 32 96 42 T C 43218032 1650 51 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCGACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752360 42752361 42752361 exon 9 0.09375 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCGACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 20 28 0.998000656515046 0.998333544178411 0.998167100346728 24 940 1 0.99218060064245 0.996090300321225 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00775049162915142 0.000229102591863151 0.07302967503172 0.0118472374568915 0.994177303236221 0.953651844076919 0.00398979711050729 0.0424384562443058 0.0384486591337985 FALSE FALSE 0.898 -0.044 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA TTG T,C 1.647e-05 1:42752361 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 synonymous_variant 0.88578 0.83918 0.84053 0.706548 0.813094074332287 0 NA NA 8.12427e-06 ENSE00001144033_024 ENSE00001144033 024 1 43217913 43218082 - 32 96 42 C T 43218034 1651 49 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAACAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752362 42752363 42752363 exon 7 0.0729166666666667 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAACAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 14 15 0.998661155878315 1 0.999330577939157 218 488 0.999432288559583 0.999921976872462 0.999677132716022 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00841099099242038 0.00189555841345257 0.0724619635913027 0.0195886136869038 0.994177303236221 0.953651844076919 0.00515327470293647 0.0460252886391033 0.0408720139361668 FALSE FALSE 1 7.109 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 1 NA GCT C,T 8.236e-06 1:42752363 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 6.080614 0.98997 0.99741 0.706548 0.999078078212082 0 NA NA 4.06303e-06 ENSE00001144033_025 ENSE00001144033 025 1 43217913 43218082 - 32 96 42 C G 43218037 1652 46 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGCCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752365 42752366 42752366 exon 4 0.0416666666666667 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGCCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant 66 17 1 0.988943891581232 0.994471945790616 14 1127 1 1 1 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 0.00974983511410532 -0.00916055000531513 0.07302967503172 0.0196666368144419 0.994177303236221 0.953651844076919 0.000294642554395097 0.0463481559230809 0.0460535133686858 FALSE FALSE 1 7.109 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 3/4 rs201977455 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GCC C,G 8.236e-06 1:42752366 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 missense_variant 6.450916 0.97917 0.99542 0.706548 0.996941423763118 0 NA NA 1.21896e-05 ENSE00001144033_026 ENSE00001144033 026 1 43217913 43218082 - 32 96 42 C T 43218044 1653 39 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTATAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752372 42752373 42752373 upstr_intron -4 -0.0714285714285714 AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTATAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant NA NA NA NA NA 83 224 1 0.999293306033337 0.999646653016669 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 NA NA 0.07302967503172 0.0189599428477794 0.994177303236221 0.953651844076919 NA 0.0459948089397497 NA FALSE NA 0 -0.961 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW LEPRE1 HGNC 19316 ENST00000481465 2/3 1 NA ACA C,T 8.236e-06 1:42752373 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 splice_region_variant 1.43527 0.16115 0.10907 0.062308 0.823216321505352 0.251529 NA NA 4.06336e-06 ENSE00001144033_027 ENSE00001144033 027 1 43217913 43218082 - 32 96 42 C T 43218056 1654 27 AGCTGCCCTGGCTAACATCACCTTGTATTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752384 42752385 42752385 upstr_intron -16 -0.357142857142857 AGCTGCCCTGGCTAACATCACCTTGTATTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant NA NA NA NA NA 17 340 0.953528820585086 0.988761228329622 0.971145024457354 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 NA NA 0.0265584956168063 0.00842786514406424 0.994177303236221 0.953651844076919 NA 0.0174931803804353 NA FALSE NA 0 -0.222 . intron_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 2/3 1 NA ACA C,T 8.236e-06 1:42752385 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 intron_variant 0.657615 0.11076 0.05009 0.062308 0.74279243959057 0.111738 NA NA 1.21933e-05 ENSE00001144033_029 ENSE00001144033 029 1 43217913 43218082 - 32 96 42 G C 43218061 1656 22 AGCTGCCCTGGCTAACATCACGTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752389 42752390 42752390 upstr_intron -21 -0.476190476190476 AGCTGCCCTGGCTAACATCACGTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant NA NA NA NA NA 10 186 1 0.985000842125142 0.992500421062571 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 NA NA 0.07302967503172 0.0046674789395843 0.994177303236221 0.953651844076919 NA 0.0388485769856521 NA FALSE NA 0.475 0.624 . intron_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 2/3 1 NA AGG G,C 8.236e-06 1:42752390 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 intron_variant -0.05925 0.17882 0.14608 0.062308 0.542230273717715 0.111738 NA NA 4.06554e-06 ENSE00001144033_030 ENSE00001144033 030 1 43217913 43218082 - 32 96 42 T A 43218068 1657 15 AGCTGCCCTGGCTATCATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 42752396 42752397 42752397 upstr_intron -28 -0.642857142857143 AGCTGCCCTGGCTATCATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG mutant NA NA NA NA NA 125 164 0.983304464871556 1 0.991652232435778 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 NA NA 0.0563341399032762 0.0196666368144419 0.994177303236221 0.953651844076919 NA 0.038000388358859 NA FALSE NA 0.002 0.208 . intron_variant&non_coding_transcript_variant MODIFIER LEPRE1 HGNC 19316 ENST00000481465 2/3 1 NA GTT T,A 1.647e-05 1:42752397 P3H1 HGNC Symbol protein_coding 20749 ENSG00000117385 ENSE00003574659 intron_variant 0.59196 0.19342 0.21344 0.062308 0.753454780828615 0.111738 NA NA 8.13332e-06 ENSE00001144033_BRK ENSE00001144033 BRK 1 43217913 43218082 - 32 96 42 A,G; T,T NA NA NA AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTTTGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGCCAAGATCAACACTGGGCATTCTAGAGTGTGG 42752241 42752411 NA NA NA NA NA NA AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTTTGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGCCAAGATCAACACTGGGCATTCTAGAGTGTGG AGCTGCCCTGGCTAACATCACCTTGTGTTTTGGGCCTTGTAGGTGGCAGCAACCTCAGGAGATGGCTACCGGGGTCAGACCTCCCCACATACTCCCAATGAAAAGTTCTATGGTGTCACTGTCTTCAAAGCCCTCAAGGTAAGATCAACACTGGGCATTCTAGAGTGTGG control 479 998 0.0136805333109735 0 0.00684026665548674 NA NA NA NA NA 0.990250164885895 0.998104441586547 0.92697032496828 0.980333363185558 -0.976569631574921 -0.998104441586547 NA NA 0.994177303236221 0.953651844076919 -0.987337036580734 NA NA NA TRUE NA NA NA NA NA LEPRE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P3H1 NA NA NA ENSG00000117385 ENSE00003574659 NA NA NA NA NA NA NA NA NA NA ENSE00001145064_000 ENSE00001145064 000 15 29367074 29367243 + 50 81 39 NA NA NA NA NA TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 NA NA NA NA NA NA TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC natural 52 44 0.982194605917143 0.975485456269225 0.978840031093184 2649 2826 0.966154959253457 0.990839047671501 0.978497003462479 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 0 0 0 0 0.978840031093184 0.978497003462479 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APBA2 NA NA NA ENSG00000034053 ENSE00003556663 NA NA NA NA NA NA NA 0.0735269721652979 FALSE NA ENSE00001145064_002 ENSE00001145064 002 15 29367074 29367243 + 50 81 39 A T 29367088 139 15 TGCATTTCTCTAACTTATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074884 29074885 29074885 upstr_intron -36 -0.7 TGCATTTCTCTAACTTATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 132 1861 0.969504159498219 0.999064039963928 0.984284099731074 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.00334920024476204 0.00822499229242779 0.978840031093184 0.978497003462479 NA 0.00578709626859492 NA FALSE NA 0 -0.81 NA NA NA APBA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:29074885 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 intron_variant 0.096457 0.14655 0.01805 0.053691 0.85614607247827 0.0901862 0.0735269721652979 FALSE 8.15867e-06 ENSE00001145064_004 ENSE00001145064 004 15 29367074 29367243 + 50 81 39 T C 29367091 141 18 GTGTTCCAGCCCAGAACTCTCATCCTTGAAAAAAATTACCTCTGGAATGTTGTTATTGTCAACAGGTCCATTGAGATCAGAGCGCTGCTGCTTCCTTGGCTGCTCCAGACCATTGCAAACCTGGAAACGGGGAAGTTAAAGATCGTGATTTTGTATGTTAGAGAAATGCA 29074870 29075040 29074887 29074888 29074888 upstr_intron -33 -0.64 TGCATTTCTCTAACATACAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 142 69 1 1 1 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0338450407465429 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0215029965375211 NA FALSE NA 0 0.046 . intron_variant MODIFIER APBA2 HGNC 579 ENST00000558259 3/13 rs555920421 1 NA ATA T,C 8.236e-06 15:29074888 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 intron_variant 0.543109 0.17405 0.04053 0.053691 0.703183619969708 0.13905 0.0735269721652979 FALSE 2.44463e-05 ENSE00001145064_006 ENSE00001145064 006 15 29367074 29367243 + 50 81 39 C T 29367099 143 26 TGCATTTCTCTAACATATAAAATCATGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074895 29074896 29074896 upstr_intron -25 -0.48 TGCATTTCTCTAACATATAAAATCATGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 212 105 1 1 1 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0338450407465429 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0215029965375211 NA FALSE NA 0 -2.449 . intron_variant MODIFIER APBA2 HGNC 579 ENST00000558259 3/13 rs370063638 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0002 T:0 ACG C,T 4.942e-05 15:29074896 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 intron_variant -0.21673 0.09928 0.00448 0.053691 0.695311737319448 0.0901862 0.0735269721652979 FALSE 3.25418e-05 ENSE00001145064_009 ENSE00001145064 009 15 29367074 29367243 + 50 81 39 C T 29367115 146 42 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCTGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074911 29074912 29074912 upstr_intron -9 -0.16 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCTGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 49 79 1 1 1 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0338450407465429 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0215029965375211 NA FALSE NA 0.003 0.588 . intron_variant MODIFIER APBA2 HGNC 579 ENST00000558259 3/13 rs528885777 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 4.118e-05 15:29074912 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 intron_variant 0.115633 0.18798 0.01724 0.053691 0.618538516919054 0.281805 0.0735269721652979 FALSE 6.09419e-05 ENSE00001145064_010 ENSE00001145064 010 15 29367074 29367243 + 50 81 39 G A 29367116 147 43 GTGTTCCAGCCCAGAACTCTCATCCTTGAAAAAAATTACCTCTGGAATGTTGTTATTGTCAACAGGTCCATTGAGATCAGAGCGCTGCTGCTTCCTTGGCTGCTCCAGACCATTGCAAACCTGGAAATGGGGAAGTTAAAGATCGTGATTTTATATGTTAGAGAAATGCA 29074870 29075040 29074912 29074913 29074913 upstr_intron -8 -0.14 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCATTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 1497 257 0.999614495371156 1 0.999807247685578 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0334595361176991 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0213102442230992 NA FALSE NA 0.005 -0.025 . splice_region_variant&intron_variant LOW APBA2 HGNC 579 ENST00000558259 3/13 1 NA CGT G,A 8.236e-06 15:29074913 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 splice_region_variant 0.072839 0.26697 0.03898 0.053691 0.545440668591343 0.275305 0.0735269721652979 FALSE 8.12526e-06 ENSE00001145064_011 ENSE00001145064 011 15 29367074 29367243 + 50 81 39 T G 29367132 148 59 GTGTTCCAGCCCAGAACTCTCATCCTTGAAAAAAATTACCTCTGGAATGTTGTTATTGTCAACAGGTCCATTGAGATCAGAGCGCTGCTGCTTCCTTGGCTGCTCCAGACCCTTGCAAACCTGGAAACGGGGAAGTTAAAGATCGTGATTTTATATGTTAGAGAAATGCA 29074870 29075040 29074928 29074929 29074929 exon 9 0.111111111111111 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAAGGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 223 273 0.982113836553963 0.999720707965257 0.99091727225961 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0159588773005057 0.00888166029375681 0.978840031093184 0.978497003462479 NA 0.0124202687971313 NA FALSE NA 1 0.901 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 4/14 1 tolerated_low_confidence(0.06) benign(0.184) NA ATG T,G 8.236e-06 15:29074929 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 missense_variant 2.834397 0.95711 0.72508 0.706298 0.995044816786798 0 0.0735269721652979 FALSE 1.62471e-05 ENSE00001145064_012 ENSE00001145064 012 15 29367074 29367243 + 50 81 39 T G 29367135 149 62 GTGTTCCAGCCCAGAACTCTCATCCTTGAAAAAAATTACCTCTGGAATGTTGTTATTGTCAACAGGTCCATTGAGATCAGAGCGCTGCTGCTTCCTTGGCTGCTCCAGCCCATTGCAAACCTGGAAACGGGGAAGTTAAAGATCGTGATTTTATATGTTAGAGAAATGCA 29074870 29075040 29074931 29074932 29074932 exon 12 0.148148148148148 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGGCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 253 41 1 0.985850992049182 0.992925496024591 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0338450407465429 -0.00498805562231874 0.978840031093184 0.978497003462479 NA 0.0144284925621121 NA FALSE NA 0.989 0.129 rs150164774 synonymous_variant LOW APBA2 HGNC 579 ENST00000558259 4/14 1 NA GTC T,G 1.647e-05 15:29074932 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 synonymous_variant 0.948551 0.9579 0.65197 0.706298 0.740785511602383 0 0.0735269721652979 FALSE 1.62467e-05 ENSE00001145064_013 ENSE00001145064 013 15 29367074 29367243 + 50 81 39 C T 29367136 150 63 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTTTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074932 29074933 29074933 exon 13 0.160493827160494 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTTTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 220 27 1 1 1 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0338450407465429 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0215029965375211 NA FALSE NA 0.993 0.63 . synonymous_variant LOW APBA2 HGNC 579 ENST00000558259 4/14 1 NA TCT C,T 8.236e-06 15:29074933 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 synonymous_variant 1.796603 0.93139 0.18674 0.706298 0.741580499884619 0 0.0735269721652979 FALSE 4.06161e-06 ENSE00001145064_014 ENSE00001145064 014 15 29367074 29367243 + 50 81 39 G A 29367144 151 71 GTGTTCCAGCCCAGAACTCTCATCCTTGAAAAAAATTACCTCTGGAATGTTGTTATTGTCAACAGGTCCATTGAGATCAGAGCGCTGCTGCTTCCTTGGTTGCTCCAGACCATTGCAAACCTGGAAACGGGGAAGTTAAAGATCGTGATTTTATATGTTAGAGAAATGCA 29074870 29075040 29074940 29074941 29074941 exon 21 0.259259259259259 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAACCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 685 17 0.994586749719236 1 0.997293374859618 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0284317904657787 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.018796371397139 NA FALSE NA 1 3.082 . synonymous_variant LOW APBA2 HGNC 579 ENST00000558259 4/14 1 NA AGC G,A 8.236e-06 15:29074941 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 synonymous_variant 1.107847 0.98604 0.86481 0.706298 0.814395649616341 0 0.0735269721652979 FALSE 1.21849e-05 ENSE00001145064_017 ENSE00001145064 017 15 29367074 29367243 + 50 81 39 C T 29367160 154 87 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGTGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074956 29074957 29074957 exon 37 0.45679012345679 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGTGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 28 279 0.809222088082234 1 0.904611044041117 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA -0.156932871171223 0.00916095232849934 0.978840031093184 0.978497003462479 NA -0.0738859594213617 NA FALSE NA 1 4.529 rs145494651 missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 4/14 rs145494651&COSM184298 1 deleterious_low_confidence(0.01) probably_damaging(0.962) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0001 GCG C,T 4.118e-05 15:29074957 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 missense_variant 8.034651 0.98572 0.90661 0.706298 0.999347871742102 0 0.0735269721652979 FALSE 2.43722e-05 ENSE00001145064_020 ENSE00001145064 020 15 29367074 29367243 + 50 81 39 G C 29367166 157 93 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTCATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074962 29074963 29074963 exon -39 0.530864197530864 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTCATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 99 31 0.977612939335997 0.988127989429931 0.982870464382964 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0114579800825396 -0.00271105824156981 0.978840031093184 0.978497003462479 NA 0.00437346092048491 NA FALSE NA 1 7.79 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 4/14 rs562643065 1 deleterious_low_confidence(0.01) possibly_damaging(0.533) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGA G,C 4.118e-05 15:29074963 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 missense_variant 6.124155 0.98659 0.96552 0.706298 0.996103395222163 0 0.0735269721652979 FALSE 4.8746e-05 ENSE00001145064_021 ENSE00001145064 021 15 29367074 29367243 + 50 81 39 C G 29367169 158 96 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATGTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074965 29074966 29074966 exon -36 0.567901234567901 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATGTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 548 346 0.999246595737899 1 0.99962329786895 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.033091636484442 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0211262944064707 NA FALSE NA 1 4.545 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 4/14 1 tolerated_low_confidence(0.11) benign(0.119) NA TCT C,G 8.236e-06 15:29074966 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 missense_variant 2.950497 0.98642 0.92808 0.706298 0.997932288122132 0 0.0735269721652979 FALSE 8.12526e-06 ENSE00001145064_022 ENSE00001145064 022 15 29367074 29367243 + 50 81 39 A G 29367172 159 99 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCGATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074968 29074969 29074969 exon -33 0.604938271604938 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCGATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 216 78 1 0.99179129476296 0.99589564738148 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0338450407465429 0.000952247091459579 0.978840031093184 0.978497003462479 NA 0.0173986439190013 NA FALSE NA 1 7.379 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 4/14 1 tolerated_low_confidence(0.05) possibly_damaging(0.776) NA CAA A,G 8.236e-06 15:29074969 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 missense_variant 4.683354 0.98304 0.95351 0.706298 0.994331733986622 0 0.0735269721652979 FALSE 4.06256e-06 ENSE00001145064_023 ENSE00001145064 023 15 29367074 29367243 + 50 81 39 G A 29367181 160 108 GTGTTCCAGCCCAGAACTCTCATCCTTGAAAAAAATTACCTCTGGAATGTTGTTATTGTCAATAGGTCCATTGAGATCAGAGCGCTGCTGCTTCCTTGGCTGCTCCAGACCATTGCAAACCTGGAAACGGGGAAGTTAAAGATCGTGATTTTATATGTTAGAGAAATGCA 29074870 29075040 29074977 29074978 29074978 exon -24 0.716049382716049 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTATTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 648 309 0.9989794116598 1 0.9994897058299 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0328244524063429 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0209927023674211 NA FALSE NA 0 -0.323 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 4/14 rs372423844 1 tolerated_low_confidence(0.14) benign(0.001) NA A:0 A:0.0001 TGT G,A 8.236e-05 15:29074978 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 missense_variant 1.240227 0.1882 0.02589 0.706298 0.96566016090753 0 0.0735269721652979 FALSE 7.72169e-05 ENSE00001145064_024 ENSE00001145064 024 15 29367074 29367243 + 50 81 39 A T 29367193 161 120 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACTACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 29074989 29074990 29074990 exon -12 0.864197530864197 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACTACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 95 452 1 1 1 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0338450407465429 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0215029965375211 NA FALSE NA 1 7.379 . missense_variant MODERATE APBA2 HGNC 579 ENST00000558259 4/14 1 deleterious(0.02) benign(0.03) NA CAA A,T 4.942e-05 15:29074990 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 missense_variant 4.045023 0.98305 0.9537 0.706298 0.995272640836423 0 0.0735269721652979 FALSE 2.84951e-05 ENSE00001145064_027 ENSE00001145064 027 15 29367074 29367243 + 50 81 39 G A 29367223 164 150 GTGTTCCAGCCCAGAACTCTTATCCTTGAAAAAAATTACCTCTGGAATGTTGTTATTGTCAACAGGTCCATTGAGATCAGAGCGCTGCTGCTTCCTTGGCTGCTCCAGACCATTGCAAACCTGGAAACGGGGAAGTTAAAGATCGTGATTTTATATGTTAGAGAAATGCA 29074870 29075040 29075019 29075020 29075020 downstr_intron 19 1.5 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATAAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant 15 12 1 0.990527451206536 0.995263725603268 262 175 0.8 0.99978223619613 0.899891118098065 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 0.0178053940828569 0.0150419949373108 -0.166154959253457 0.00894318852462894 0.978840031093184 0.978497003462479 0.0164236945100839 -0.078605885364414 0.0950295798744979 FALSE FALSE 0 0.461 . intron_variant MODIFIER APBA2 HGNC 579 ENST00000558259 4/13 rs200859134 1 A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 TGA G,A 0.0001153 15:29075020 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 intron_variant 0.833053 0.19199 0.03524 0.053691 0.706811134881295 0.140494 0.0735269721652979 FALSE 0.000114921 ENSE00001145064_028 ENSE00001145064 028 15 29367074 29367243 + 50 81 39 A G 29367224 165 151 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGGGAGTTCTGGGCTGGAACAC 29074870 29075040 29075020 29075021 29075021 downstr_intron 20 1.52631578947368 TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGGGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC mutant NA NA NA NA NA 173 543 1 1 1 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA 0.0338450407465429 0.00916095232849934 0.978840031093184 0.978497003462479 NA 0.0215029965375211 NA FALSE NA 0 -0.394 . intron_variant MODIFIER APBA2 HGNC 579 ENST00000558259 4/13 1 NA GAG A,G 8.238e-06 15:29075021 APBA2 HGNC Symbol protein_coding 233832 ENSG00000034053 ENSE00003556663 intron_variant 0.560753 0.1678 0.0095 0.053691 0.691205026808995 0.0913079 0.0735269721652979 FALSE 4.25065e-06 ENSE00001145064_BRK ENSE00001145064 BRK 15 29367074 29367243 + 50 81 39 A,G; T,T NA NA NA TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCTTGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGCCAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC 29074870 29075040 NA NA NA NA NA NA TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCTTGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGCCAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC TGCATTTCTCTAACATATAAAATCACGATCTTTAACTTCCCCGTTTCCAGGTTTGCAATGGTCTGGAGCAGCCAAGGAAGCAGCAGCGCTCTGATCTCAATGGACCTGTTGACAATAACAACATTCCAGAGGTAATTTTTTTCAAGGATGAGAGTTCTGGGCTGGAACAC control NA NA NA NA NA 165 1789 0 0.0152572803034238 0.00762864015171192 0.982194605917143 0.975485456269225 0.966154959253457 0.990839047671501 NA NA -0.966154959253457 -0.975581767368077 0.978840031093184 0.978497003462479 NA -0.970868363310767 NA TRUE NA NA NA NA NA NA APBA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APBA2 NA NA NA ENSG00000034053 ENSE00003556663 NA NA NA NA NA NA NA 0.0735269721652979 FALSE NA ENSE00001146020_000 ENSE00001146020 000 18 21444708 21444877 + 41 99 30 NA NA NA NA NA TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 NA NA NA NA NA NA TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG natural 31 20 0.979830371058323 0.941442923245262 0.960636647151792 75 509 1 0.991742526210048 0.995871263105024 0.979830371058323 0.941442923245262 1 0.991742526210048 0 0 0 0 0.960636647151792 0.995871263105024 0 0 0 FALSE FALSE NA NA NA NA NA LAMA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAMA3 NA NA NA ENSG00000053747 ENSE00001146020 NA NA NA NA NA NA NA 4.40816622681492e-24 FALSE NA ENSE00001146020_001 ENSE00001146020 001 18 21444708 21444877 + 41 99 30 C T 21444731 280 24 TTTTAATGCTTGTGCTATTGATGTTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864766 23864767 23864767 upstr_intron -18 -0.414634146341463 TTTTAATGCTTGTGCTATTGATGTTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 904 28 0.997740905931928 0.994309202397004 0.996025054164466 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA -0.0022590940680719 0.00256667618695683 0.960636647151792 0.995871263105024 NA 0.000153791059442465 NA FALSE NA 0 -1.003 . intron_variant MODIFIER LAMA3 HGNC 6483 ENST00000313654 35/74 rs374279159 1 NA T:0 T:0.0001 GCT C,T 8.273e-06 18:23864767 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 intron_variant 0.290415 0.26503 0.04659 0.119485 0.435655439812322 0.195201 4.40816622681492e-24 FALSE 4.07116e-06 ENSE00001146020_005 ENSE00001146020 005 18 21444708 21444877 + 41 99 30 G A 21444762 284 55 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGATGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864797 23864798 23864798 exon 14 0.141414141414141 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGATGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 101 283 1 1 1 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA 0 0.00825747378995234 0.960636647151792 0.995871263105024 NA 0.00412873689497617 NA FALSE NA 1 8.783 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 1 probably_damaging(1) NA GGT G,A 1.654e-05 18:23864798 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 6.16676 0.97696 0.95653 0.615465 0.998119835976416 0 4.40816622681492e-24 FALSE 1.62621e-05 ENSE00001146020_008 ENSE00001146020 008 18 21444708 21444877 + 41 99 30 G A 21444782 287 75 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAACCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864817 23864818 23864818 exon 34 0.343434343434343 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAACCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 283 473 1 0.991164255227175 0.995582127613588 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA 0 -0.00057827098287222 0.960636647151792 0.995871263105024 NA -0.00028913549143611 NA FALSE NA 1 1.417 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 1 benign(0.023) NA AGC G,A 2.481e-05 18:23864818 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 0.992741 0.35048 0.45813 0.615465 0.971980345883538 0 4.40816622681492e-24 FALSE 2.03278e-05 ENSE00001146020_009 ENSE00001146020 009 18 21444708 21444877 + 41 99 30 C T 21444783 288 76 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGTCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864818 23864819 23864819 exon 35 0.353535353535354 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGTCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 117 408 1 0.999250279754385 0.999625139877192 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA 0 0.00750775354433686 0.960636647151792 0.995871263105024 NA 0.00375387677216843 NA FALSE NA 0.996 1.228 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 COSM987118 1 benign(0.006) NA GCC C,T 1.654e-05 18:23864819 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant -0.624014 0.28247 0.17393 0.615465 0.671872269994662 0 4.40816622681492e-24 FALSE 2.03262e-05 ENSE00001146020_010 ENSE00001146020 010 18 21444708 21444877 + 41 99 30 A G 21444785 289 78 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCGAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864820 23864821 23864821 exon 37 0.373737373737374 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCGAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 249 695 1 1 1 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA 0 0.00825747378995234 0.960636647151792 0.995871263105024 NA 0.00412873689497617 NA FALSE NA 1 8.307 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 1 probably_damaging(0.999) NA CAA A,G 8.27e-06 18:23864821 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 4.604651 0.97166 0.95329 0.615465 0.998594744084614 0 4.40816622681492e-24 FALSE 8.12922e-06 ENSE00001146020_011 ENSE00001146020 011 18 21444708 21444877 + 41 99 30 T G 21444792 290 85 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTGTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864827 23864828 23864828 exon 44 0.444444444444444 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTGTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 70 110 0.955588457202935 1 0.977794228601467 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA -0.0444115427970654 0.00825747378995234 0.960636647151792 0.995871263105024 NA -0.0180770345035565 NA FALSE NA 1 5.43 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 1 probably_damaging(0.992) NA TTT T,G 8.27e-06 18:23864828 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 5.031766 0.96015 0.90734 0.615465 0.987910414610719 0 4.40816622681492e-24 FALSE 4.06507e-06 ENSE00001146020_013 ENSE00001146020 013 18 21444708 21444877 + 41 99 30 C T 21444800 292 93 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGTCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864835 23864836 23864836 exon -48 0.525252525252525 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGTCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 266 576 1 0.99525150598328 0.99762575299164 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA 0 0.00350897977323195 0.960636647151792 0.995871263105024 NA 0.00175448988661597 NA FALSE NA 1 6.942 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 1 probably_damaging(0.996) NA GCC C,T 8.269e-06 18:23864836 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 3.786229 0.97568 0.93552 0.615465 0.997360214106679 0 4.40816622681492e-24 FALSE 2.43954e-05 ENSE00001146020_016 ENSE00001146020 016 18 21444708 21444877 + 41 99 30 A G 21444807 295 100 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGGCATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864842 23864843 23864843 exon -41 0.595959595959596 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGGCATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 216 304 0.998851208014161 1 0.999425604007081 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA -0.00114879198583862 0.00825747378995234 0.960636647151792 0.995871263105024 NA 0.00355434090205686 NA FALSE NA 1 8.307 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 rs201045690 1 possibly_damaging(0.808) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0.0005 G:0.0018 GAC A,G 0.0008764 18:23864843 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 5.075615 0.97187 0.95321 0.615465 0.998081720289201 0 4.40816622681492e-24 FALSE 0.000926988 ENSE00001146020_017 ENSE00001146020 017 18 21444708 21444877 + 41 99 30 G C 21444812 296 105 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGCTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864847 23864848 23864848 exon -36 0.646464646464647 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGCTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 451 931 0.945190606866172 0.884315096322506 0.914752851594339 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA -0.0548093931338279 -0.107427429887541 0.960636647151792 0.995871263105024 NA -0.0811184115106847 NA FALSE NA 0.995 1.213 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 1 benign(0.05) NA GGT G,C 8.268e-06 18:23864848 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 0.337718 0.91527 0.80145 0.615465 0.904480324370715 0 4.40816622681492e-24 FALSE 4.06653e-06 ENSE00001146020_018 ENSE00001146020 018 18 21444708 21444877 + 41 99 30 G T 21444826 297 119 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAATAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864861 23864862 23864862 exon -22 0.787878787878788 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAATAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 289 864 0.980655895167248 0.976089684686294 0.978372789926771 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA -0.019344104832752 -0.0156528415237538 0.960636647151792 0.995871263105024 NA -0.0174984731782529 NA FALSE NA 0.884 1.051 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 1 probably_damaging(0.948) NA AGA G,T 8.267e-06 18:23864862 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 4.165255 0.90367 0.73689 0.615465 0.993884269483954 0 4.40816622681492e-24 FALSE NA ENSE00001146020_022 ENSE00001146020 022 18 21444708 21444877 + 41 99 30 G A 21444832 301 125 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCAGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864867 23864868 23864868 exon -16 0.848484848484849 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCAGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 87 796 0.95 0.935349262387634 0.942674631193817 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA -0.05 -0.0563932638224141 0.960636647151792 0.995871263105024 NA -0.053196631911207 NA FALSE NA 0 -3.829 . synonymous_variant LOW LAMA3 HGNC 6483 ENST00000313654 36/75 rs200532263 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGG G,A 0.000124 18:23864868 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 synonymous_variant 0.084737 0.20458 0.03877 0.615465 0.681923888846929 0 4.40816622681492e-24 FALSE 0.000122141 ENSE00001146020_023 ENSE00001146020 023 18 21444708 21444877 + 41 99 30 C T 21444842 302 135 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGTTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864877 23864878 23864878 exon -6 0.94949494949495 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGTTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 552 429 1 0.998205817241372 0.999102908620686 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA 0 0.00646329103132481 0.960636647151792 0.995871263105024 NA 0.00323164551566241 NA FALSE NA 1 2.134 . missense_variant MODERATE LAMA3 HGNC 6483 ENST00000313654 36/75 1 possibly_damaging(0.558) NA GCT C,T 1.653e-05 18:23864878 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 missense_variant 4.648876 0.95664 0.81948 0.615465 0.995638829115685 0 4.40816622681492e-24 FALSE 4.07355e-06 ENSE00001146020_025 ENSE00001146020 025 18 21444708 21444877 + 41 99 30 A G 21444850 304 143 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTGGGTATCAGAGCATGACCTAAGTGGCAG 23864743 23864913 23864885 23864886 23864886 downstr_intron 3 1.10344827586207 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTGGGTATCAGAGCATGACCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 35 642 1 0.993394242207664 0.996697121103832 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA 0 0.00165171599761593 0.960636647151792 0.995871263105024 NA 0.000825857998807966 NA FALSE NA 1 1.413 . splice_region_variant&intron_variant LOW LAMA3 HGNC 6483 ENST00000313654 36/74 1 NA TAG A,G 8.263e-06 18:23864886 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 splice_region_variant 0.233485 0.90419 0.67295 0.119485 0.428402733226782 0.36788 4.40816622681492e-24 FALSE 4.07677e-06 ENSE00001146020_026 ENSE00001146020 026 18 21444708 21444877 + 41 99 30 C T 21444866 305 159 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGATCTAAGTGGCAG 23864743 23864913 23864901 23864902 23864902 downstr_intron 19 1.6551724137931 TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGATCTAAGTGGCAG TTTTAATGCTTGTGCTATTGATGCTATTAATTCCATTTTAGGTTTCTTCATATGGTGGTTACCTCACTTACCAAGCCAAGTCCTTTGGCTTGCCTGGCGACATGGTTCTTCTGGAAAAGAAGCCGGATGTACAGCTCACTGTAGGTATCAGAGCATGACCTAAGTGGCAG mutant NA NA NA NA NA 127 275 1 0.992830033701817 0.996415016850909 0.979830371058323 0.941442923245262 1 0.991742526210048 NA NA 0 0.00108750749176956 0.960636647151792 0.995871263105024 NA 0.000543753745884779 NA FALSE NA 0 0.07 . intron_variant MODIFIER LAMA3 HGNC 6483 ENST00000313654 36/74 rs564625729 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACC C,T 8.262e-06 18:23864902 LAMA3 HGNC Symbol protein_coding 265623 ENSG00000053747 ENSE00001146020 intron_variant 0.433856 0.30194 0.06626 0.119485 0.475556775114127 0.14039 4.40816622681492e-24 FALSE 4.0838e-06 ENSE00001146123_000 ENSE00001146123 000 16 4445236 4445405 - 54 51 65 NA NA NA NA NA CAGGCTGGCTTCCAGGGACCCTCCAGCCCTAATCGCAAGTTGTTTCCTCCTCTCTGCTTTTCCAGGACAAGCAGCTGCGGATCTTTGACCCCAGAACAAAGCCGCGGGCCTCTCAGGTGAGTTGTGTGGGCAAGCTGGGGTGGGTTGAAGCCTCCACTGAGGCTGAGGAC 4395234 4395404 NA NA NA NA NA NA CAGGCTGGCTTCCAGGGACCCTCCAGCCCTAATCGCAAGTTGTTTCCTCCTCTCTGCTTTTCCAGGACAAGCAGCTGCGGATCTTTGACCCCAGAACAAAGCCGCGGGCCTCTCAGGTGAGTTGTGTGGGCAAGCTGGGGTGGGTTGAAGCCTCCACTGAGGCTGAGGAC CAGGCTGGCTTCCAGGGACCCTCCAGCCCTAATCGCAAGTTGTTTCCTCCTCTCTGCTTTTCCAGGACAAGCAGCTGCGGATCTTTGACCCCAGAACAAAGCCGCGGGCCTCTCAGGTGAGTTGTGTGGGCAAGCTGGGGTGGGTTGAAGCCTCCACTGAGGCTGAGGAC natural 82 36 0.91908683581799 0.993644974145542 0.956365904981766 404 202 0.988809591888958 0.894749613041757 0.941779602465357 0.91908683581799 0.993644974145542 0.988809591888958 0.894749613041757 0 0 0 0 0.956365904981766 0.941779602465357 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003662591 NA NA NA NA NA NA NA NA NA NA ENSE00001146174_000 ENSE00001146174 000 16 4405251 4405420 - 36 87 47 NA NA NA NA NA AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 NA NA NA NA NA NA AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC natural 15 39 0.992314966248185 0.989346387895043 0.990830677071614 529 342 0.989256823443263 0.986886259480119 0.988071541461691 0.992314966248185 0.989346387895043 0.989256823443263 0.986886259480119 0 0 0 0 0.990830677071614 0.988071541461691 0 0 0 FALSE FALSE NA NA NA NA NA PAM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAM16 NA NA NA ENSG00000217930 ENSE00003558774 NA NA NA NA NA NA NA 0.144011543598339 FALSE NA ENSE00001146174_BRK ENSE00001146174 BRK 16 4405251 4405420 - 36 87 47 A,G; T,T NA NA NA AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCTTCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGCCGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 NA NA NA NA NA NA AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCTTCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGCCGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC control 22 22 0 0.0603996428989675 0.0301998214494837 NA NA NA NA NA 0.992314966248185 0.989346387895043 0.989256823443263 0.986886259480119 -0.992314966248185 -0.928946744996076 NA NA 0.990830677071614 0.988071541461691 -0.960630855622131 NA NA NA TRUE NA NA NA NA NA PAM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAM16 NA NA NA ENSG00000217930 ENSE00003558774 NA NA NA NA NA NA NA 0.144011543598339 FALSE NA ENSE00001148404_000 ENSE00001148404 000 6 129690996 129691165 + 41 99 30 NA NA NA NA NA TTCAGAAGATTCATAATTTTGCCACCTTACCCTGGTCAGCAGCTCGTTCATTTCGGTCACGAGTGTATTCAGATTGCCCTCTGCCAGCTGAATAAGCCTCTCTGGGGCCCGCTGAGGTGACAGCAAGTGCTGAAAAAGATTCCATCCCATAAACATTTTTAGTAAATGGC 129369850 129370020 NA NA NA NA NA NA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA natural 41 26 0.987384561100164 0.993287967247186 0.990336264173675 2937 1002 0.971032855673165 0.846973593052893 0.909003224363029 0.987384561100164 0.993287967247186 0.971032855673165 0.846973593052893 0 0 0 0 0.990336264173675 0.909003224363029 0 0 0 FALSE FALSE NA NA NA NA NA LAMA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAMA2 NA NA NA ENSG00000196569 ENSE00001148404 NA NA NA NA NA NA NA 1.1846527263111e-24 FALSE NA ENSE00001148404_020 ENSE00001148404 020 6 129690996 129691165 + 41 99 30 C T 129691105 2145 110 TTCAGAAGATTCATAATTTTGCCACCTTACCCTGGTCAGCAGCTCGTTCATTTCGGTCACAAGTGTATTCAGATTGCCCTCTGCCAGCTGAATAAGCCTCTCTGGGGCCCGCTGAGGTGACAGCAAGTGCTGAAAAAGATTCCATCCCATAAACATTTTTAGTAAATGGC 129369850 129370020 129369959 129369960 129369960 exon -31 0.696969696969697 GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTTGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA mutant NA NA NA NA NA 108 11 0.955515088899586 0.95 0.952757544449793 0.987384561100164 0.993287967247186 0.971032855673165 0.846973593052893 NA NA -0.0155177667735792 0.103026406947107 0.990336264173675 0.909003224363029 NA 0.0437543200867639 NA FALSE NA 0.003 -2.267 . synonymous_variant LOW LAMA2 HGNC 6482 ENST00000421865 34/65 COSM203774 1 NA TCG C 4.118e-05 6:129369960 LAMA2 HGNC Symbol protein_coding 633428 ENSG00000196569 ENSE00001148404 synonymous_variant 0.996848 0.12293 0.03982 0.554377 0.767757500350381 0 1.1846527263111e-24 FALSE 4.88767e-05 ENSE00001148404_021 ENSE00001148404 021 6 129690996 129691165 + 41 99 30 G A 129691106 2146 111 TTCAGAAGATTCATAATTTTGCCACCTTACCCTGGTCAGCAGCTCGTTCATTTCGGTCATGAGTGTATTCAGATTGCCCTCTGCCAGCTGAATAAGCCTCTCTGGGGCCCGCTGAGGTGACAGCAAGTGCTGAAAAAGATTCCATCCCATAAACATTTTTAGTAAATGGC 129369850 129370020 129369960 129369961 129369961 exon -30 0.707070707070707 GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCATGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA mutant NA NA NA NA NA 2309 104 0.963549868364195 0.946152244435348 0.954851056399772 0.987384561100164 0.993287967247186 0.971032855673165 0.846973593052893 NA NA -0.00748298730896957 0.0991786513824553 0.990336264173675 0.909003224363029 NA 0.0458478320367429 NA FALSE NA 1 3.904 rs182762857 missense_variant MODERATE LAMA2 HGNC 6482 ENST00000421865 34/65 rs182762857&COSM421079 1 deleterious(0.03) benign(0.409) A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 CGT G 0.0001071 6:129369961 LAMA2 HGNC Symbol protein_coding 633428 ENSG00000196569 ENSE00001148404 missense_variant 2.159608 0.95289 0.88429 0.554377 0.997207876204372 0 1.1846527263111e-24 FALSE 8.14571e-05 ENSE00001148404_026 ENSE00001148404 026 6 129690996 129691165 + 41 99 30 C T 129691120 2151 125 TTCAGAAGATTCATAATTTTGCCACCTTACCCTGGTCAGCAGCTCATTCATTTCGGTCACGAGTGTATTCAGATTGCCCTCTGCCAGCTGAATAAGCCTCTCTGGGGCCCGCTGAGGTGACAGCAAGTGCTGAAAAAGATTCCATCCCATAAACATTTTTAGTAAATGGC 129369850 129370020 129369974 129369975 129369975 exon -16 0.848484848484849 GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAATGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA mutant NA NA NA NA NA 93 36 0.964265414871202 0.998935809748919 0.98160061231006 0.987384561100164 0.993287967247186 0.971032855673165 0.846973593052893 NA NA -0.0067674408019629 0.151962216696026 0.990336264173675 0.909003224363029 NA 0.0725973879470314 NA FALSE NA 1 0.85 rs111632017 synonymous_variant LOW LAMA2 HGNC 6482 ENST00000421865 34/65 rs111632017 1 NA T:0.0011 T:0.0003 ACG C 0.0001318 6:129369975 LAMA2 HGNC Symbol protein_coding 633428 ENSG00000196569 ENSE00001148404 synonymous_variant 0.627488 0.89148 0.233 0.554377 0.808699119392356 0 1.1846527263111e-24 FALSE 0.000110015 ENSE00001148404_029 ENSE00001148404 029 6 129690996 129691165 + 41 99 30 C G 129691132 2154 137 TTCAGAAGATTCATAATTTTGCCACCTTACCCTCGTCAGCAGCTCGTTCATTTCGGTCACGAGTGTATTCAGATTGCCCTCTGCCAGCTGAATAAGCCTCTCTGGGGCCCGCTGAGGTGACAGCAAGTGCTGAAAAAGATTCCATCCCATAAACATTTTTAGTAAATGGC 129369850 129370020 129369986 129369987 129369987 exon -4 0.96969696969697 GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACGAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA mutant NA NA NA NA NA 463 577 0.977576136686581 0.980783000563299 0.97917956862494 0.987384561100164 0.993287967247186 0.971032855673165 0.846973593052893 NA NA 0.00654328101341617 0.133809407510406 0.990336264173675 0.909003224363029 NA 0.0701763442619111 NA FALSE NA 1 1.591 rs17057184 synonymous_variant LOW LAMA2 HGNC 6482 ENST00000421865 34/65 rs17057184&LAMA2:c.4956C>G 1 G:0.0966 G:0.1104&G:0.1104 G:0.1484&G:0.1484 NA G:0.0466&G:0.0466 G:0.0706&G:0.0706 G:0.1196&G:0.1196 G:0.113&G:0.113 G:0.0615&G:0.0615 CCA C 0.085 6:129369987 LAMA2 HGNC Symbol protein_coding 633428 ENSG00000196569 ENSE00001148404 synonymous_variant 1.030612 0.92362 0.79236 0.554377 0.564251328526721 0 1.1846527263111e-24 FALSE 0.0884706 ENSE00001148404_030 ENSE00001148404 030 6 129690996 129691165 + 41 99 30 G T 129691141 2155 146 TTCAGAAGATTCATAATTTTGCCAACTTACCCTGGTCAGCAGCTCGTTCATTTCGGTCACGAGTGTATTCAGATTGCCCTCTGCCAGCTGAATAAGCCTCTCTGGGGCCCGCTGAGGTGACAGCAAGTGCTGAAAAAGATTCCATCCCATAAACATTTTTAGTAAATGGC 129369850 129370020 129369995 129369996 129369996 downstr_intron 6 1.20689655172414 GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGTTGGCAAAATTATGAATCTTCTGAA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA mutant NA NA NA NA NA 164 105 1 1 1 0.987384561100164 0.993287967247186 0.971032855673165 0.846973593052893 NA NA 0.0289671443268352 0.153026406947107 0.990336264173675 0.909003224363029 NA 0.0909967756369712 NA FALSE NA 0.97 0.729 rs148060790 splice_region_variant&intron_variant LOW LAMA2 HGNC 6482 ENST00000421865 34/64 rs148060790 1 T:0.0020 T:0.0061 T:0.0029 NA T:0 T:0 T:0 T:0.0082 T:0 GGT T 0.0007166 6:129369996 LAMA2 HGNC Symbol protein_coding 633428 ENSG00000196569 ENSE00001148404 splice_region_variant 1.372795 0.68093 0.03245 0.053691 0.928476663669934 0.280145 1.1846527263111e-24 FALSE 0.000608084 ENSE00001148404_BRK ENSE00001148404 BRK 6 129690996 129691165 + 41 99 30 A,G; T,T NA NA NA TTCAGAAGATTCATAATTTTGCCACCTTGGCCTGGTCAGCAGCTCGTTCATTTCGGTCACGAGTGTATTCAGATTGCCCTCTGCCAGCTGAATAAGCCTCTCTGGGGCCCGCTGAGGTGACAGCAAGTGAAGAAAAAGATTCCATCCCATAAACATTTTTAGTAAATGGC 129369850 129370020 NA NA NA NA NA NA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCTTCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGCCAAGGTGGCAAAATTATGAATCTTCTGAA GCCATTTACTAAAAATGTTTATGGGATGGAATCTTTTTCAGCACTTGCTGTCACCTCAGCGGGCCCCAGAGAGGCTTATTCAGCTGGCAGAGGGCAATCTGAATACACTCGTGACCGAAATGAACGAGCTGCTGACCAGGGTAAGGTGGCAAAATTATGAATCTTCTGAA control 186 67 0 0 0 475 529 0 0.0161907333671481 0.00809536668357404 0.987384561100164 0.993287967247186 0.971032855673165 0.846973593052893 -0.987384561100164 -0.993287967247186 -0.971032855673165 -0.830782859685745 0.990336264173675 0.909003224363029 -0.990336264173675 -0.900907857679455 0.0894284064942206 TRUE TRUE NA NA NA NA NA LAMA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAMA2 NA NA NA ENSG00000196569 ENSE00001148404 NA NA NA NA NA NA NA 1.1846527263111e-24 FALSE NA ENSE00001149823_000 ENSE00001149823 000 8 71040627 71040796 - 41 78 51 NA NA NA NA NA TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 NA NA NA NA NA NA TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG natural 35 27 0.999761983848584 1 0.999880991924292 5335 3947 0.966650983536777 0.989534146523036 0.978092565029906 0.999761983848584 1 0.966650983536777 0.989534146523036 0 0 0 0 0.999880991924292 0.978092565029906 0 0 0 FALSE FALSE NA NA NA NA NA NCOA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA2 NA NA NA ENSG00000140396 ENSE00003552844 NA NA NA NA NA NA NA 0.999997381929581 TRUE NA ENSE00001149823_002 ENSE00001149823 002 8 71040627 71040796 - 41 78 51 T C 71040638 1430 159 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCGTTGTATGCATG 70128391 70128561 70128402 70128403 70128403 downstr_intron 30 1.75 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCGTTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 589 69 0.865784120783221 0.997700976363053 0.931742548573137 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA -0.100866862753556 0.0081668298400176 0.999880991924292 0.978092565029906 NA -0.0463500164567692 NA FALSE NA 0 -0.272 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/20 1 NA ATG T,C 8.272e-06 8:70128403 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 intron_variant 0.377181 0.21164 0.11939 0.156188 0.76851891842212 0.088125 0.999997381929581 TRUE NA ENSE00001149823_003 ENSE00001149823 003 8 71040627 71040796 - 41 78 51 A C 71040641 1431 156 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTGTCATTGTATGCATG 70128391 70128561 70128405 70128406 70128406 downstr_intron 27 1.675 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTGTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 704 354 1 1 1 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0333490164632233 0.0104658534769642 0.999880991924292 0.978092565029906 NA 0.0219074349700937 NA FALSE NA 0.001 0.227 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/20 1 NA AAA A,C 8.271e-06 8:70128406 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 intron_variant 0.359991 0.21527 0.23047 0.156188 0.735551004113515 0.088125 0.999997381929581 TRUE 3.4411e-05 ENSE00001149823_004 ENSE00001149823 004 8 71040627 71040796 - 41 78 51 A G 71040646 1432 151 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATCAGCTTTCATTGTATGCATG 70128391 70128561 70128410 70128411 70128411 downstr_intron 22 1.55 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATCAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 615 72 0.996681115446021 0.999469676027879 0.99807539573695 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0300301319092448 0.009935529504843 0.999880991924292 0.978092565029906 NA 0.0199828307070439 NA FALSE NA 0 0.226 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/20 1 NA TAA A,G 8.287e-06 8:70128411 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 intron_variant -0.187484 0.11097 0.02259 0.156188 0.32260263406318 0.088125 0.999997381929581 TRUE 4.32657e-06 ENSE00001149823_006 ENSE00001149823 006 8 71040627 71040796 - 41 78 51 T C 71040652 1434 145 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCGGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128416 70128417 70128417 downstr_intron 16 1.4 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCGGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 233 1271 1 0.998366539129205 0.999183269564603 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0333490164632233 0.00883239260616941 0.999880991924292 0.978092565029906 NA 0.0210907045346964 NA FALSE NA 0.001 0.254 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/20 rs530708540 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTG T,C 3.312e-05 8:70128417 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 intron_variant 0.341846 0.21279 0.17703 0.156188 0.642624283596592 0.157936 0.999997381929581 TRUE 1.69854e-05 ENSE00001149823_007 ENSE00001149823 007 8 71040627 71040796 - 41 78 51 C A 71040662 1435 135 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGTCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128426 70128427 70128427 downstr_intron 6 1.15 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGTCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 242 535 0.999829820823833 1 0.999914910411917 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0331788372870567 0.0104658534769642 0.999880991924292 0.978092565029906 NA 0.0218223453820104 NA FALSE NA 0 -0.104 . splice_region_variant&intron_variant&NMD_transcript_variant LOW NCOA2 HGNC 7669 ENST00000518287 17/20 1 NA GCC C,A 3.309e-05 8:70128427 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 splice_region_variant 1.145857 0.42209 0.21804 0.156188 0.592670402197649 0.29498 0.999997381929581 TRUE NA ENSE00001149823_008 ENSE00001149823 008 8 71040627 71040796 - 41 78 51 A G 71040683 1436 114 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCCGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128447 70128448 70128448 exon -16 0.807692307692308 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCCGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 307 66 0.991003750627404 1 0.995501875313702 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0243527670906271 0.0104658534769642 0.999880991924292 0.978092565029906 NA 0.0174093102837956 NA FALSE NA 0.996 0.666 rs2228592 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/21 rs2228592 1 G:0.0110 G:0.0393 G:0.0043 NA G:0 G:0 G:0 G:0.0358 G:0.0001 CAG A,G 0.00306 8:70128448 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 synonymous_variant 0.635936 0.89809 0.78164 0.706548 0.700767236784504 0 0.999997381929581 TRUE 0.00278475 ENSE00001149823_010 ENSE00001149823 010 8 71040627 71040796 - 41 78 51 C T 71040686 1438 111 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGACCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128450 70128451 70128451 exon -19 0.769230769230769 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGACCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 651 797 1 1 1 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0333490164632233 0.0104658534769642 0.999880991924292 0.978092565029906 NA 0.0219074349700937 NA FALSE NA 1 0.704 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/21 1 NA GCC C,T 8.271e-06 8:70128451 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 synonymous_variant 2.170313 0.9068 0.70053 0.706548 0.675486234589021 0 0.999997381929581 TRUE 4.10576e-06 ENSE00001149823_012 ENSE00001149823 012 8 71040627 71040796 - 41 78 51 A T 71040690 1440 107 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCAGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128454 70128455 70128455 exon -23 0.717948717948718 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCAGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 267 1052 1 0.999849635892681 0.99992481794634 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0333490164632233 0.0103154893696449 0.999880991924292 0.978092565029906 NA 0.0218322529164341 NA FALSE NA 1 6.882 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/21 1 NA CAG A,T 8.271e-06 8:70128455 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 missense_variant 4.348836 0.95145 0.9674 0.706548 0.979597324701802 0 0.999997381929581 TRUE 4.09997e-06 ENSE00001149823_013 ENSE00001149823 013 8 71040627 71040796 - 41 78 51 T G 71040699 1441 98 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGACCTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128463 70128464 70128464 exon -32 0.602564102564103 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGACCTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 1278 995 0.995654832280555 0.986029033438791 0.990841932859673 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0290038487437787 -0.00350511308424528 0.999880991924292 0.978092565029906 NA 0.0127493678297667 NA FALSE NA 1 5.729 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/21 1 NA GTT T,G 2.481e-05 8:70128464 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 missense_variant 4.665607 0.95178 0.95402 0.706548 0.994836218937821 0 0.999997381929581 TRUE 2.45638e-05 ENSE00001149823_014 ENSE00001149823 014 8 71040627 71040796 - 41 78 51 T C 71040705 1442 92 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAGTGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128469 70128470 70128470 exon -38 0.525641025641026 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAGTGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 319 2050 0.999870921352632 0.99704191925954 0.998456420306086 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0332199378158557 0.00750777273650394 0.999880991924292 0.978092565029906 NA 0.0203638552761798 NA FALSE NA 1 5.729 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:70128470 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 missense_variant 1.726422 0.94919 0.93292 0.706548 0.620985226810692 0 0.999997381929581 TRUE 4.09407e-06 ENSE00001149823_015 ENSE00001149823 015 8 71040627 71040796 - 41 78 51 T G 71040705 1443 92 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCACTGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128469 70128470 70128470 exon -38 0.525641025641026 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCACTGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 422 241 1 0.995785701425071 0.997892850712536 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0333490164632233 0.00625155490203533 0.999880991924292 0.978092565029906 NA 0.0198002856826293 NA FALSE NA 1 5.729 NA NA NA NCOA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA2 NA NA NA ENSG00000140396 ENSE00003552844 missense_variant 4.168206 0.95178 0.95402 0.706548 0.94293094155682 0 0.999997381929581 TRUE 8.18813e-06 ENSE00001149823_016 ENSE00001149823 016 8 71040627 71040796 - 41 78 51 T C 71040714 1444 83 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAGTGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128478 70128479 70128479 exon 32 0.41025641025641 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAGTGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 3739 319 0.998522653785333 0.999503901620477 0.999013277702905 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0318716702485562 0.00996975509744114 0.999880991924292 0.978092565029906 NA 0.0209207126729987 NA FALSE NA 0.99 1.722 rs150532560 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/21 rs150532560 1 C:0.0062 C:0.0219 C:0.0029 NA C:0 C:0 C:0 C:0.0128 C:0 ATT T,C 0.001373 8:70128479 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 missense_variant 1.012343 0.9168 0.64731 0.706548 0.945547961749886 0 0.999997381929581 TRUE 0.00115059 ENSE00001149823_017 ENSE00001149823 017 8 71040627 71040796 - 41 78 51 T G 71040715 1445 82 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCCATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128479 70128480 70128480 exon 31 0.397435897435897 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCCATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 191 798 1 0.999617563905199 0.999808781952599 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0333490164632233 0.0100834173821629 0.999880991924292 0.978092565029906 NA 0.0217162169226931 NA FALSE NA 1 2.096 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/21 1 NA TTG T,G 2.482e-05 8:70128480 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 missense_variant 2.593252 0.93052 0.90093 0.706548 0.993009425375026 0 0.999997381929581 TRUE 1.63755e-05 ENSE00001149823_019 ENSE00001149823 019 8 71040627 71040796 - 41 78 51 T C 71040722 1447 75 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAGATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128486 70128487 70128487 exon 24 0.307692307692308 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAGATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 465 742 0.997685050871275 1 0.998842525435638 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0310340673344988 0.0104658534769642 0.999880991924292 0.978092565029906 NA 0.0207499604057315 NA FALSE NA 1 0.98 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 17/21 1 NA TTT T,C 8.272e-06 8:70128487 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 synonymous_variant 0.302521 0.89651 0.52625 0.706548 0.392859163398016 0 0.999997381929581 TRUE 4.09708e-06 ENSE00001149823_021 ENSE00001149823 021 8 71040627 71040796 - 41 78 51 T C 71040744 1449 53 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAGTCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128508 70128509 70128509 exon 2 0.0256410256410256 TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAGTCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 1026 2740 0.998202833925153 0.999958321235655 0.999080577580404 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0315518503883764 0.0104241747126187 0.999880991924292 0.978092565029906 NA 0.0209880125504975 NA FALSE NA 1 7.445 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW NCOA2 HGNC 7669 ENST00000518287 17/21 1 NA ATT T,C 8.275e-06 8:70128509 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 missense_variant 1.583814 0.99158 0.9919 0.706548 0.973540572355682 0 0.999997381929581 TRUE NA ENSE00001149823_022 ENSE00001149823 022 8 71040627 71040796 - 41 78 51 A G 71040771 1450 26 TAAAATGTATTCTGTTCTTAAAATGCATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128535 70128536 70128536 upstr_intron -26 -0.490196078431373 TAAAATGTATTCTGTTCTTAAAATGCATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 359 1316 1 0.997262980476743 0.998631490238371 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0333490164632233 0.00772883395370705 0.999880991924292 0.978092565029906 NA 0.0205389252084652 NA FALSE NA 0 0.581 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 16/20 rs373237506 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAC A,G 3.31e-05 8:70128536 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 intron_variant 0.554202 0.23547 0.20086 0.062308 0.786367517447199 0.117432 0.999997381929581 TRUE 3.4107e-05 ENSE00001149823_023 ENSE00001149823 023 8 71040627 71040796 - 41 78 51 C T 71040772 1451 25 TAAAATGTATTCTGTTCTTAAAATATATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 70128536 70128537 70128537 upstr_intron -27 -0.509803921568627 TAAAATGTATTCTGTTCTTAAAATATATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG mutant NA NA NA NA NA 241 809 0.99458314473309 0.9990535792885 0.996818362010795 0.999761983848584 1 0.966650983536777 0.989534146523036 NA NA 0.0279321611963133 0.00951943276546452 0.999880991924292 0.978092565029906 NA 0.0187257969808889 NA FALSE NA 0 -0.929 . intron_variant&NMD_transcript_variant MODIFIER NCOA2 HGNC 7669 ENST00000518287 16/20 1 NA ACA C,T 2.483e-05 8:70128537 NCOA2 HGNC Symbol protein_coding 294043 ENSG00000140396 ENSE00003552844 intron_variant 0.285648 0.14537 0.03876 0.062308 0.727690316615728 0.117432 0.999997381929581 TRUE 1.2804e-05 ENSE00001149823_BRK ENSE00001149823 BRK 8 71040627 71040796 - 41 78 51 A,G; T,T NA NA NA TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTTTAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGCCAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG 70128391 70128561 NA NA NA NA NA NA TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTTTAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGCCAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG TAAAATGTATTCTGTTCTTAAAATGTATTCATCCTGTTTGTATGTATTTAGAATCGCCAGCCACTTATGAATCAAATCAGCAATGTTTCCAATGTGAACTTGACTCTGAGGCCTGGAGTACCAACACAGGTAAGGCAACATACCAGCCATTAGCTTTCATTGTATGCATG control 106 21 0 0 0 1187 778 0.00123773419890003 0.000411241017840793 0.000824487608370411 0.999761983848584 1 0.966650983536777 0.989534146523036 -0.999761983848584 -1 -0.965413249337877 -0.989122905505195 0.999880991924292 0.978092565029906 -0.999880991924292 -0.977268077421536 0.022612914502756 TRUE TRUE NA NA NA NA NA NCOA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA2 NA NA NA ENSG00000140396 ENSE00003552844 NA NA NA NA NA NA NA 0.999997381929581 TRUE NA ENSE00001151642_000 ENSE00001151642 000 17 73839503 73839672 - 62 36 72 NA NA NA NA NA GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 NA NA NA NA NA NA GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG natural 745 1072 0.847789623337146 0.839663965175683 0.843726794256414 497 643 0.868780119924338 0.685857338311788 0.777318729118063 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0 0 0 0 0.843726794256414 0.777318729118063 0 0 0 FALSE FALSE NA NA NA NA NA WBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13D NA NA NA ENSG00000092929 ENSE00003462137 NA NA NA NA NA NA NA 2.52003157333038e-12 FALSE NA ENSE00001151642_001 ENSE00001151642 001 17 73839503 73839672 - 62 36 72 C T 73839515 3034 158 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTATCCTCCTGCCGG 75843421 75843591 75843433 75843434 75843434 downstr_intron 50 1.81967213114754 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTATCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 282 638 0.848053842666837 0.85 0.849026921333418 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.000264219329691118 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.00530012707700395 NA NA NA FALSE 0 -2.047 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA ACA C,T 4.141e-05 17:75843434 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 intron_variant 0.386397 0.15569 0.01539 0.08998 0.902272621153156 0.0864301 2.52003157333038e-12 FALSE 6.55969e-05 ENSE00001151642_002 ENSE00001151642 002 17 73839503 73839672 - 62 36 72 C T 73839519 3035 154 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTATGTGTCCTCCTGCCGG 75843421 75843591 75843437 75843438 75843438 downstr_intron 46 1.75409836065574 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTATGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 102 129 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 0.0103360348243169 NA NA 0.843726794256414 0.777318729118063 0.00627320574358564 NA NA NA FALSE 0 -0.064 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA ACA C,T 4.97e-05 17:75843438 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 intron_variant 1.104206 0.23221 0.05982 0.08998 0.920687876334545 0.0864301 2.52003157333038e-12 FALSE 6.4878e-05 ENSE00001151642_003 ENSE00001151642 003 17 73839503 73839672 - 62 36 72 C T 73839523 3036 150 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCAGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843441 75843442 75843442 downstr_intron 42 1.68852459016393 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCAGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 29 16 0.811249142025243 0.85 0.830624571012622 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 -0.0365404813119024 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 -0.0131022232437928 NA NA NA FALSE 0 -1.294 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 rs576154507 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCG C,T 8.28e-06 17:75843442 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 intron_variant 1.460308 0.12418 0.01858 0.08998 0.950385123226907 0.136135 2.52003157333038e-12 FALSE NA ENSE00001151642_004 ENSE00001151642 004 17 73839503 73839672 - 62 36 72 G A 73839524 3037 149 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGTGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843442 75843443 75843443 downstr_intron 41 1.67213114754098 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGTGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 29 45 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.00627320574358559 NA NA NA FALSE 0 -0.717 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA CGC G,A 2.484e-05 17:75843443 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 intron_variant 1.089533 0.16288 0.07585 0.08998 0.934413653666123 0.134961 2.52003157333038e-12 FALSE NA ENSE00001151642_005 ENSE00001151642 005 17 73839503 73839672 - 62 36 72 T C 73839528 3038 145 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGGGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843446 75843447 75843447 downstr_intron 37 1.60655737704918 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGGGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 69 264 0.825794711841088 0.85 0.837897355920544 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 -0.0219949114960574 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 -0.0058294383358703 NA NA NA FALSE 0 0.034 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA CTC T,C 1.655e-05 17:75843447 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 intron_variant 1.543003 0.13215 0.00452 0.08998 0.84570882570422 0.132754 2.52003157333038e-12 FALSE 4.79883e-06 ENSE00001151642_006 ENSE00001151642 006 17 73839503 73839672 - 62 36 72 C A 73839544 3039 129 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGTTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843462 75843463 75843463 downstr_intron 21 1.34426229508197 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGTTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 54 46 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.00627320574358559 NA NA NA FALSE 0.002 0.22 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA ACC C,A 8.267e-05 17:75843463 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 intron_variant 2.218237 0.20573 0.1647 0.08998 0.83370439749094 0.116118 2.52003157333038e-12 FALSE 7.98772e-05 ENSE00001151642_007 ENSE00001151642 007 17 73839503 73839672 - 62 36 72 A G 73839548 3040 125 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCCGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843466 75843467 75843467 downstr_intron 17 1.27868852459016 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCCGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 113 203 0.845134041361739 0.869210775980815 0.857172408671277 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 -0.00265558197540616 0.0295468108051316 NA NA 0.843726794256414 0.777318729118063 0.0134456144148627 NA NA NA FALSE 0.001 0.206 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 rs370193514 1 NA G:0.0005 G:0 CAG A,G 2.479e-05 17:75843467 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 intron_variant 1.794201 0.15502 0.07332 0.08998 0.799653347716349 0.141792 2.52003157333038e-12 FALSE 1.74312e-05 ENSE00001151642_009 ENSE00001151642 009 17 73839503 73839672 - 62 36 72 C T 73839570 3042 103 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCAAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843488 75843489 75843489 exon -6 0.861111111111111 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCAAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 559 670 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.00221037666285451 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.00627320574358564 NA NA NA FALSE 0 0.715 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:75843489 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 missense_variant 2.106407 0.7788 0.22718 0.615465 0.992078093726822 0 2.52003157333038e-12 FALSE 8.37781e-06 ENSE00001151642_011 ENSE00001151642 011 17 73839503 73839672 - 62 36 72 G A 73839571 3044 102 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCTGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843489 75843490 75843490 exon -7 0.833333333333333 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCTGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 38 44 0.85 0.824920627107344 0.837460313553672 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 -0.0147433380683387 NA NA 0.843726794256414 0.777318729118063 -0.00626648070274216 NA NA NA FALSE 0 -3.595 NA NA NA WBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:75843490 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 synonymous_variant 0.411012 0.09456 0.01122 0.615465 0.839930745943236 0 2.52003157333038e-12 FALSE NA ENSE00001151642_014 ENSE00001151642 014 17 73839503 73839672 - 62 36 72 A G 73839579 3047 94 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACCTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843497 75843498 75843498 exon -15 0.611111111111111 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACCTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 38 64 0.85 0.85 0.85 15 212 0 0 0 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 0.0103360348243168 -0.868780119924338 -0.685857338311788 0.843726794256414 0.777318729118063 0.00627320574358559 -0.777318729118063 0.783591934861649 TRUE FALSE 0 0.141 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA AAG A,G 8.259e-06 17:75843498 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 missense_variant -0.391216 0.85351 0.43564 0.615465 0.590766046582768 0 2.52003157333038e-12 FALSE 4.16452e-06 ENSE00001151642_015 ENSE00001151642 015 17 73839503 73839672 - 62 36 72 G T 73839582 3048 91 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACAACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843500 75843501 75843501 exon -18 0.527777777777778 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACAACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 134 206 0.85 0.868965187646589 0.859482593823295 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.00221037666285451 0.0293012224709062 NA NA 0.843726794256414 0.777318729118063 0.0157557995668803 NA NA NA FALSE 0.143 2.649 rs145293891 downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 rs145293891 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 TGG G,T 4.129e-05 17:75843501 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 missense_variant 2.458594 0.89713 0.81064 0.615465 0.727801654385072 0 2.52003157333038e-12 FALSE 4.16202e-05 ENSE00001151642_017 ENSE00001151642 017 17 73839503 73839672 - 62 36 72 T G 73839600 3050 73 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGCTCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843518 75843519 75843519 exon 1 0.0277777777777778 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGCTCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant NA NA NA NA NA 28 324 0 0.00112998316168586 0.000564991580842932 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 NA NA -0.868780119924338 -0.684727355150102 0.843726794256414 0.777318729118063 NA -0.77675373753722 NA TRUE NA 0 -0.631 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:75843519 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 missense_variant -0.749381 0.20394 0.09917 0.615465 0.593770560790302 0 2.52003157333038e-12 FALSE 4.155e-06 ENSE00001151642_018 ENSE00001151642 018 17 73839503 73839672 - 62 36 72 T A 73839600 3051 73 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGTTCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843518 75843519 75843519 exon 1 0.0277777777777778 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGTTCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 30 36 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.00627320574358559 NA NA NA FALSE 0 -0.631 NA NA NA WBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13D NA NA NA ENSG00000092929 ENSE00003462137 missense_variant -0.334646 0.20855 0.04512 0.615465 0.690200604803084 0 2.52003157333038e-12 FALSE 4.155e-06 ENSE00001151642_020 ENSE00001151642 020 17 73839503 73839672 - 62 36 72 C G 73839609 3053 64 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTCCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843527 75843528 75843528 upstr_intron -9 -0.111111111111111 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTCCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 75 52 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.00221037666285451 0.0103360348243167 NA NA 0.843726794256414 0.777318729118063 0.00627320574358559 NA NA NA FALSE 0 -1.374 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 rs527842266 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 GCA C,G 6.609e-05 17:75843528 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 non_coding_transcript_exon_variant 0.515228 0.19865 0.03428 0.116174 0.66497070884079 0.278638 2.52003157333038e-12 FALSE 6.24729e-05 ENSE00001151642_021 ENSE00001151642 021 17 73839503 73839672 - 62 36 72 A G 73839610 3054 63 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTCGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843528 75843529 75843529 upstr_intron -10 -0.125 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTCGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 100 104 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 0.0103360348243167 NA NA 0.843726794256414 0.777318729118063 0.00627320574358553 NA NA NA FALSE 0 -0.324 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA CAA A,G 8.261e-06 17:75843529 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 non_coding_transcript_exon_variant 0.547479 0.21794 0.03401 0.116174 0.763671343885652 0.287606 2.52003157333038e-12 FALSE NA ENSE00001151642_022 ENSE00001151642 022 17 73839503 73839672 - 62 36 72 G A 73839621 3055 52 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGTCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843539 75843540 75843540 upstr_intron -21 -0.277777777777778 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGTCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 20 35 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.00627320574358559 NA NA NA FALSE 0 0.073 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA GGC G,A 8.263e-06 17:75843540 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 non_coding_transcript_exon_variant 0.441452 0.13786 0.02087 0.08998 0.752928737834929 0.20495 2.52003157333038e-12 FALSE NA ENSE00001151642_023 ENSE00001151642 023 17 73839503 73839672 - 62 36 72 C T 73839628 3056 45 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGAACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843546 75843547 75843547 upstr_intron -28 -0.375 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGAACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 20 92 0.85 0.85 0.85 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.0022103766628544 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.00627320574358559 NA NA NA FALSE 0 0.742 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 rs199964122 1 NA T:0 T:0.0002 TCC C,T 0.0001157 17:75843547 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 non_coding_transcript_exon_variant 0.419084 0.203 0.21617 0.08998 0.687456370229845 0.137089 2.52003157333038e-12 FALSE 0.000136254 ENSE00001151642_024 ENSE00001151642 024 17 73839503 73839672 - 62 36 72 C T 73839630 3057 43 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCAGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843548 75843549 75843549 upstr_intron -30 -0.402777777777778 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCAGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 72 46 0.826296846157655 0.85 0.838148423078828 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 -0.0214927771794903 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 -0.00557837117758675 NA NA NA FALSE 0 -3.168 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA CCG C,T 5.786e-05 17:75843549 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 non_coding_transcript_exon_variant 0.087369 0.14938 0.0184 0.08998 0.60834701382835 0.105033 2.52003157333038e-12 FALSE 6.39288e-05 ENSE00001151642_025 ENSE00001151642 025 17 73839503 73839672 - 62 36 72 G A 73839631 3058 42 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCTGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843549 75843550 75843550 upstr_intron -31 -0.416666666666667 GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCTGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 31 72 0.959910765282703 0.85 0.904955382641352 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 0.112121141945558 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.0612285883849373 NA NA NA FALSE 0 -0.782 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 rs200132817 1 A:0.0008 A:0 A:0.0014 NA A:0 A:0.003 A:0 A:0.0002 A:0.001 CGG G,A 0.001298 17:75843550 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 non_coding_transcript_exon_variant 0.317964 0.18595 0.09542 0.08998 0.6715183657878 0.105033 2.52003157333038e-12 FALSE 0.0016224 ENSE00001151642_027 ENSE00001151642 027 17 73839503 73839672 - 62 36 72 C G 73839650 3060 23 GAGGAGCCATTCCTGTCCATCTCAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 75843568 75843569 75843569 upstr_intron -50 -0.680555555555556 GAGGAGCCATTCCTGTCCATCTCAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG mutant 114 94 0.840323477497899 0.85 0.84516173874895 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 -0.00746614583924632 0.0103360348243168 NA NA 0.843726794256414 0.777318729118063 0.00143494449253523 NA NA NA FALSE 0 -0.942 . downstream_gene_variant MODIFIER WBP2 HGNC 12738 ENST00000433525 1 NA TCA C,G 8.269e-06 17:75843569 UNC13D HGNC Symbol protein_coding 17492 ENSG00000092929 ENSE00003462137 non_coding_transcript_exon_variant 0.205502 0.24219 0.15322 0.08998 0.476668347342206 0.0731447 2.52003157333038e-12 FALSE NA ENSE00001151642_BRK ENSE00001151642 BRK 17 73839503 73839672 - 62 36 72 A,G; T,T NA NA NA GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCTTATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGCCAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG 75843421 75843591 NA NA NA NA NA NA GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCTTATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGCCAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG GAGGAGCCATTCCTGTCCATCTGAGCCTGCTCTGGGCCTCCCGGGACACTGCCTTTCCACCTTGCTCTGCAGATCCAGCCTCCATCCCACCACTTCTCCCCCGAGCAGGTAAGAGTCAGAGTGCTGGGGTGCAGAGAGGTGGGGAGGGCGGCTGTGTGTCCTCCTGCCGG control 195 392 0 0 0 NA NA NA NA NA 0.847789623337146 0.839663965175683 0.868780119924338 0.685857338311788 -0.847789623337146 -0.839663965175683 NA NA 0.843726794256414 0.777318729118063 -0.843726794256414 NA NA NA TRUE NA NA NA NA NA WBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13D NA NA NA ENSG00000092929 ENSE00003462137 NA NA NA NA NA NA NA 2.52003157333038e-12 FALSE NA ENSE00001152991_000 ENSE00001152991 000 15 41768593 41768762 + 51 78 41 NA NA NA NA NA CCTTACAGGATGAGGAAAGAGGCTCGAGTACAACTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 NA NA NA NA NA NA ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG natural 19 16 0.952788543475432 0.826076611775956 0.889432577625694 2174 3108 0.949427002902942 0.991110114123082 0.970268558513012 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 0 0 0 0 0.889432577625694 0.970268558513012 0 0 0 FALSE FALSE NA NA NA NA NA RTF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RTF1 NA NA NA ENSG00000137815 ENSE00003670789 NA NA NA NA NA NA NA 0.993637763534383 TRUE NA ENSE00001152991_001 ENSE00001152991 001 15 41768593 41768762 + 51 78 41 C T 41768613 589 21 CCTTACAGGATGAGGAAAGAGGCTCGAGTACAACTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGATATTCCTAAGCTATTTTTGT 41476394 41476564 41476414 41476415 41476415 upstr_intron -31 -0.588235294117647 ACAAAAATAGCTTAGGAATATCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant NA NA NA NA NA 1243 340 0.999435798625783 0.993713587513993 0.996574693069888 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 NA NA 0.050008795722841 0.00260347339091083 0.889432577625694 0.970268558513012 NA 0.0263061345568759 NA FALSE NA 0.875 0.228 . intron_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 3/5 1 NA ACC C,T 4.942e-05 15:41476415 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 intron_variant 2.530603 0.9732 0.87961 0.295142 0.716411968535516 0.545806 0.993637763534383 TRUE 3.65702e-05 ENSE00001152991_003 ENSE00001152991 003 15 41768593 41768762 + 51 78 41 G A 41768663 591 71 CCTTACAGGATGAGGAAAGAGGCTCGAGTACAACTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACTTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476464 41476465 41476465 exon 20 0.256410256410256 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAAGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant NA NA NA NA NA 1903 1380 0.996651283304898 0.999972417943819 0.998311850624358 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 NA NA 0.0472242804019561 0.00886230382073672 0.889432577625694 0.970268558513012 NA 0.0280432921113464 NA FALSE NA 1 7.811 . missense_variant MODERATE RTF1 HGNC 28996 ENST00000560447 4/6 rs201667884 1 tolerated(0.43) benign(0.002) NA AGG G,A 8.236e-05 15:41476465 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 missense_variant 3.163753 0.99231 0.98888 0.719381 0.962490703056879 0 0.993637763534383 TRUE 0.000121832 ENSE00001152991_005 ENSE00001152991 005 15 41768593 41768762 + 51 78 41 C T 41768688 593 96 CCTTACAGGATGAGGAAAGAGGCTCGAGTACAACTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCATAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476489 41476490 41476490 exon -34 0.576923076923077 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTATGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant 58 77 0.85 0.85 0.85 NA NA NA NA NA 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 -0.102788543475432 0.0239233882240441 NA NA 0.889432577625694 0.970268558513012 -0.0394325776256939 NA NA NA FALSE 1 0.907 rs146566102 synonymous_variant LOW RTF1 HGNC 28996 ENST00000560447 4/6 rs146566102 1 NA T:0 T:0.0001 ACG C,T 1.647e-05 15:41476490 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 synonymous_variant 1.318431 0.97257 0.53342 0.719381 0.826555062988618 0 0.993637763534383 TRUE 8.12216e-06 ENSE00001152991_006 ENSE00001152991 006 15 41768593 41768762 + 51 78 41 G A 41768715 594 123 CCTTACAGGATGAGGAAAGAGGCTCGAGTACAACTCCTTACCTTTTCTTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476516 41476517 41476517 exon -7 0.923076923076923 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAAGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant NA NA NA NA NA 21 195 1 0.997220053264398 0.998610026632199 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 NA NA 0.0505729970970578 0.0061099391413163 0.889432577625694 0.970268558513012 NA 0.028341468119187 NA FALSE NA 1 2.918 . synonymous_variant LOW RTF1 HGNC 28996 ENST00000560447 4/6 1 NA AGG G,A 8.236e-06 15:41476517 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 synonymous_variant 1.095372 0.98168 0.94782 0.719381 0.829356688889945 0 0.993637763534383 TRUE 4.06171e-06 ENSE00001152991_007 ENSE00001152991 007 15 41768593 41768762 + 51 78 41 G A 41768726 595 134 CCTTACAGGATGAGGAAAGAGGCTCGAGTACAACTCTTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476527 41476528 41476528 downstr_intron 5 1.125 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAAGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant 96 91 0 0 0 269 618 0 0.000517814718852333 0.000258907359426167 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 -0.952788543475432 -0.826076611775956 -0.949427002902942 -0.99059229940423 0.889432577625694 0.970268558513012 -0.889432577625694 -0.970009651153586 0.0805770735278919 TRUE TRUE 0.995 2.275 . splice_region_variant&intron_variant LOW RTF1 HGNC 28996 ENST00000560447 4/5 rs372286520 1 NA A:0 A:0.0001 AGG G,A 8.236e-06 15:41476528 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 splice_region_variant 1.611118 0.98033 0.81727 0.099367 0.825454407203929 0.531058 0.993637763534383 TRUE 4.06246e-06 ENSE00001152991_008 ENSE00001152991 008 15 41768593 41768762 + 51 78 41 T G 41768730 596 138 CCTTACAGGATGAGGAAAGAGGCTCGAGTACACCTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476531 41476532 41476532 downstr_intron 9 1.225 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGGTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant 529 635 0.85 0.85 0.85 478 546 0.950640228346419 0.94714785152879 0.948894039937605 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 -0.102788543475432 0.0239233882240441 0.00121322544347691 -0.0439622625942917 0.889432577625694 0.970268558513012 -0.0394325776256939 -0.0213745185754074 0.0180580590502865 FALSE FALSE 0 -0.039 . intron_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 4/5 1 NA GTT T,G 8.236e-06 15:41476532 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 intron_variant 0.358281 0.21297 0.13069 0.099367 0.450486602288776 0.259148 0.993637763534383 TRUE 8.12638e-06 ENSE00001152991_009 ENSE00001152991 009 15 41768593 41768762 + 51 78 41 C G 41768735 597 143 CCTTACAGGATGAGGAAAGAGGCTCGACTACAACTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476536 41476537 41476537 downstr_intron 14 1.35 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTAGTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant 31 43 0.85 0.85 0.85 NA NA NA NA NA 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 -0.102788543475432 0.0239233882240441 NA NA 0.889432577625694 0.970268558513012 -0.0394325776256939 NA NA NA FALSE 0 -0.279 . intron_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 4/5 1 NA ACT C,G 1.647e-05 15:41476537 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 intron_variant 0.148067 0.1366 0.14393 0.099367 0.386739637569845 0.149753 0.993637763534383 TRUE 8.12704e-06 ENSE00001152991_010 ENSE00001152991 010 15 41768593 41768762 + 51 78 41 C T 41768737 598 145 CCTTACAGGATGAGGAAAGAGGCTCAAGTACAACTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476538 41476539 41476539 downstr_intron 16 1.4 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTTGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant NA NA NA NA NA 330 420 0.998278123644072 1 0.999139061822036 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 NA NA 0.0488511207411297 0.00888988587691808 0.889432577625694 0.970268558513012 NA 0.0288705033090239 NA FALSE NA 0 -1.846 . intron_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 4/5 rs527327852 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 4.942e-05 15:41476539 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 intron_variant 0.467639 0.13622 0.05311 0.099367 0.476115692980821 0.149753 0.993637763534383 TRUE 3.25269e-05 ENSE00001152991_011 ENSE00001152991 011 15 41768593 41768762 + 51 78 41 G A 41768738 599 146 CCTTACAGGATGAGGAAAGAGGCTTGAGTACAACTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476539 41476540 41476540 downstr_intron 17 1.425 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCAAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant NA NA NA NA NA 137 110 0.8 1 0.9 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 NA NA -0.149427002902942 0.00888988587691808 0.889432577625694 0.970268558513012 NA -0.0702685585130121 NA FALSE NA 0 -0.396 . intron_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 4/5 1 NA CGA G,A 2.471e-05 15:41476540 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 intron_variant -0.012204 0.09351 0.02166 0.099367 0.508800512710604 0.149753 0.993637763534383 TRUE 2.03189e-05 ENSE00001152991_012 ENSE00001152991 012 15 41768593 41768762 + 51 78 41 C T 41768751 600 159 CCTTACAGGATAAGGAAAGAGGCTCGAGTACAACTCCTTACCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATCTGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 41476552 41476553 41476553 downstr_intron 30 1.75 ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTTATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG mutant NA NA NA NA NA 482 380 0.996621809471436 0.999295858111789 0.997958833791612 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 NA NA 0.0471948065684937 0.00818574398870664 0.889432577625694 0.970268558513012 NA 0.0276902752786002 NA FALSE NA 0 -1.653 . intron_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 4/5 rs369323664 1 NA T:0.0002 T:0 TCA C,T 1.647e-05 15:41476553 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003670789 intron_variant 0.903959 0.16185 0.01383 0.099367 0.7400880811575 0.149753 0.993637763534383 TRUE 8.13412e-06 ENSE00001152991_BRK ENSE00001152991 BRK 15 41768593 41768762 + 51 78 41 A,G; T,T NA NA NA CCTTACAGGATGAGGAAAGAGGCTCGAGTACAACTCCTTGGCTTTTCCTTCAGTAGCTGAGTCTTCTTCATAGCGTAGTTGGGTGGAGCTTTTCTGAACCTTTCTTTCTCTTTTACAATAAGTACCAGAGAGGAGATACCAGCAGTGAGGTATTCCTAAGCTATTTTTGT 41476394 41476564 NA NA NA NA NA NA ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACTTATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGCCAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG ACAAAAATAGCTTAGGAATACCTCACTGCTGGTATCTCCTCTCTGGTACAGATTGTAAAAGAGAAAGAAAGGTTCAGAAAAGCTCCACCCAACTACGCTATGAAGAAGACTCAGCTACTGAAGGAAAAGGTAAGGAGTTGTACTCGAGCCTCTTTCCTCATCCTGTAAGG control NA NA NA NA NA 190 211 0.00201914546864857 0 0.00100957273432428 0.952788543475432 0.826076611775956 0.949427002902942 0.991110114123082 NA NA -0.947407857434294 -0.991110114123082 0.889432577625694 0.970268558513012 NA -0.969258985778688 NA TRUE NA NA NA NA NA NA RTF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RTF1 NA NA NA ENSG00000137815 ENSE00003670789 NA NA NA NA NA NA NA 0.993637763534383 TRUE NA ENSE00001155018_000 ENSE00001155018 000 6 7567545 7567714 + 42 96 32 NA NA NA NA NA CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 NA NA NA NA NA NA CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT natural 126 160 0.979629722985172 0.941759921223711 0.960694822104442 8567 9339 0.97825917536404 0.945870083787625 0.962064629575832 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 0 0 0 0 0.960694822104442 0.962064629575832 0 0 0 FALSE FALSE NA NA NA NA NA DSP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DSP NA NA NA ENSG00000096696 ENSE00001155018 NA NA NA NA NA NA NA 0.999901542789998 TRUE NA ENSE00001155018_001 ENSE00001155018 001 6 7567545 7567714 + 42 96 32 C T 7567571 32 27 CAACTGAGCTAGGCTAAGACAGCTGATATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567337 7567338 7567338 upstr_intron -16 -0.357142857142857 CAACTGAGCTAGGCTAAGACAGCTGATATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 2311 3322 0.999732579623513 0.957161612226513 0.978447095925013 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA 0.0214734042594725 0.0112915284388878 0.960694822104442 0.962064629575832 NA 0.0163824663491802 NA FALSE NA 0 -0.507 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 rs530682284 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACA C,T 1.647e-05 6:7567338 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 intron_variant 0.00512 0.16038 0.01311 0.062308 0.235338780144898 0.046323 0.999901542789998 TRUE 1.22122e-05 ENSE00001155018_003 ENSE00001155018 003 6 7567545 7567714 + 42 96 32 C T 7567584 34 40 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTTAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567350 7567351 7567351 upstr_intron -3 -0.0476190476190476 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTTAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 2866 1817 0.97212374180834 0.993203849839053 0.982663795823697 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA -0.00613543355570023 0.0473337660514285 0.960694822104442 0.962064629575832 NA 0.0205991662478641 NA FALSE NA 0.982 3.135 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 1 NA TCA C,T 2.471e-05 6:7567351 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 splice_region_variant 1.964376 0.98362 0.92975 0.099367 0.929329686673402 0.980513 0.999901542789998 TRUE 1.22023e-05 ENSE00001155018_004 ENSE00001155018 004 6 7567545 7567714 + 42 96 32 G A 7567607 35 63 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAAACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567373 7567374 7567374 exon 21 0.21875 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAAACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 2569 1028 0.968549568489649 0.868553457101308 0.918551512795479 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA -0.00970960687439071 -0.0773166266863164 0.960694822104442 0.962064629575832 NA -0.0435131167803536 NA FALSE NA 1 4.569 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 1 NA AGA G,A 1.647e-05 6:7567374 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 synonymous_variant 1.017443 0.98449 0.94477 0.706548 0.774719748208642 0 0.999901542789998 TRUE 4.066e-06 ENSE00001155018_005 ENSE00001155018 005 6 7567545 7567714 + 42 96 32 C T 7567609 36 65 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGATGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567375 7567376 7567376 exon 23 0.239583333333333 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGATGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 1561 2048 0.995937328897057 0.997366626757168 0.996651977827113 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA 0.017678153533017 0.0514965429695432 0.960694822104442 0.962064629575832 NA 0.0345873482512801 NA FALSE NA 1 7.775 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 COSM484348 1 NA ACG C,T 8.236e-06 6:7567376 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 missense_variant 7.331876 0.99407 0.99383 0.706548 0.999131068075055 0 0.999901542789998 TRUE 1.21981e-05 ENSE00001155018_006 ENSE00001155018 006 6 7567545 7567714 + 42 96 32 G A 7567610 37 66 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACACAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567376 7567377 7567377 exon 24 0.25 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACACAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 1356 1870 0.997276653240488 0.99564497842389 0.996460815832189 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA 0.0190174778764478 0.0497748946362652 0.960694822104442 0.962064629575832 NA 0.0343961862563565 NA FALSE NA 0 -2.917 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 1 NA CGC G,A 2.471e-05 6:7567377 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 synonymous_variant 1.616281 0.09099 0.0228 0.706548 0.570000404137351 0 0.999901542789998 TRUE 2.03305e-05 ENSE00001155018_007 ENSE00001155018 007 6 7567545 7567714 + 42 96 32 G C 7567631 38 87 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCACATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567397 7567398 7567398 exon 45 0.46875 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCACATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 1002 919 0.909833980735823 0.839367764489665 0.874600872612744 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA -0.0684251946282175 -0.10650231929796 0.960694822104442 0.962064629575832 NA -0.0874637569630887 NA FALSE NA 1 3.97 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 1 NA AGA G,C 8.236e-06 6:7567398 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 missense_variant 6.005453 0.99075 0.98835 0.706548 0.997754569348619 0 0.999901542789998 TRUE 4.06461e-06 ENSE00001155018_008 ENSE00001155018 008 6 7567545 7567714 + 42 96 32 C T 7567636 39 92 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCATCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567402 7567403 7567403 exon -47 0.520833333333333 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCATCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 927 1326 0.998297940640284 0.999971294490282 0.999134617565283 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA 0.020038765276244 0.0541012107026572 0.960694822104442 0.962064629575832 NA 0.0370699879894506 NA FALSE NA 1 5.958 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 1 NA ACC C,T 8.236e-06 6:7567403 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 missense_variant 6.588951 0.98968 0.98842 0.706548 0.999176010492598 0 0.999901542789998 TRUE 4.06461e-06 ENSE00001155018_009 ENSE00001155018 009 6 7567545 7567714 + 42 96 32 T C 7567645 40 101 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCACTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567411 7567412 7567412 exon -38 0.614583333333333 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCACTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 1248 309 0.996594682967152 1 0.998297341483576 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA 0.0183355076031121 0.0541299162123753 0.960694822104442 0.962064629575832 NA 0.0362327119077437 NA FALSE NA 1 7.996 rs141163578 downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 rs141163578 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0002 ATT T,C 7.413e-05 6:7567412 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 missense_variant 5.872047 0.99187 0.99545 0.706548 0.998613910619322 0 0.999901542789998 TRUE 4.06478e-05 ENSE00001155018_010 ENSE00001155018 010 6 7567545 7567714 + 42 96 32 A T 7567648 41 104 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGTTGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567414 7567415 7567415 exon -35 0.645833333333333 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGTTGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 1258 499 0.996378741226674 0.999923697644884 0.998151219435779 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA 0.0181195658626341 0.0540536138572594 0.960694822104442 0.962064629575832 NA 0.0360865898599467 NA FALSE NA 1 9.287 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 1 NA GAT A,T 8.236e-06 6:7567415 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 missense_variant 6.049486 0.98717 0.99651 0.706548 0.994254889331993 0 0.999901542789998 TRUE 4.06461e-06 ENSE00001155018_011 ENSE00001155018 011 6 7567545 7567714 + 42 96 32 T A 7567677 42 133 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACATTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 7567443 7567444 7567444 exon -6 0.947916666666667 CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACATTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT mutant NA NA NA NA NA 1289 2480 0.982462778488705 0.951161428204742 0.966812103346723 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 NA NA 0.0042036031246645 0.00529134441711721 0.960694822104442 0.962064629575832 NA 0.00474747377089085 NA FALSE NA 1 3.851 . downstream_gene_variant MODIFIER DSP HGNC 3052 ENST00000506617 1 NA CTT T,A 8.236e-06 6:7567444 DSP HGNC Symbol protein_coding 45142 ENSG00000096696 ENSE00001155018 missense_variant 6.846751 0.98495 0.93923 0.706548 0.993001593335355 0 0.999901542789998 TRUE 4.06835e-06 ENSE00001155018_BRK ENSE00001155018 BRK 6 7567545 7567714 + 42 96 32 A,G; T,T NA NA NA CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCTTGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGCCTTTTATATTTAGTGATAATTTTGTTGTTAT 7567311 7567481 NA NA NA NA NA NA CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCTTGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGCCTTTTATATTTAGTGATAATTTTGTTGTTAT CAACTGAGCTAGGCTAAGACAGCTGACATTTTCTTGTTTCAGGCCTATATGGACACTCTGCAGACGCAGTGGAGTTGGATTCTTCAGATCACCAAGTGCATTGATGTTCATCTGAAAGAAAATGCTGCCTACTTTCAGGTTTTTATATTTAGTGATAATTTTGTTGTTAT control 1388 981 0.0465593441969861 0.0444471496205531 0.0455032469087696 1580 185 0.117253815477506 0.00173372703631041 0.0594937712569083 0.979629722985172 0.941759921223711 0.97825917536404 0.945870083787625 -0.933070378788186 -0.897312771603158 -0.861005359886534 -0.944136356751314 0.960694822104442 0.962064629575832 -0.915191575195672 -0.902570858318924 0.0126207168767478 TRUE TRUE NA NA NA NA NA DSP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DSP NA NA NA ENSG00000096696 ENSE00001155018 NA NA NA NA NA NA NA 0.999901542789998 TRUE NA ENSE00001156207_000 ENSE00001156207 000 14 50555797 50555966 - 42 75 53 NA NA NA NA NA TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA 50089078 50089248 NA NA NA NA NA NA TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA natural NA NA NA NA NA 1166 2075 0.931833400746853 0.893354612846026 0.912594006796439 NA NA 0.931833400746853 0.893354612846026 NA NA 0 0 NA 0.912594006796439 NA 0 NA FALSE NA NA NA NA NA NA RP11-58E21.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LINC01588 NA NA NA ENSG00000214900 NA NA NA NA NA NA NA NA NA NA NA ENSE00001156207_003 ENSE00001156207 003 14 50555797 50555966 - 42 75 53 T C 50555865 327 102 TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTGGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA 50089078 50089248 50089146 50089147 50089147 exon -27 0.653333333333333 TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTGGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA mutant NA NA NA NA NA 23 113 1 1 1 NA NA 0.931833400746853 0.893354612846026 NA NA 0.0681665992531475 0.106645387153974 NA 0.912594006796439 NA 0.0874059932035606 NA FALSE NA 0 -0.354 rs191584713 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-58E21.7 Clone_based_vega_gene NA ENST00000556019 1/5 rs191584713 1 C:0.0018 C:0 C:0 NA C:0.0089 C:0 C:0 CTA T,C 0.0004383 14:50089147 LINC01588 HGNC Symbol lincRNA 165072 ENSG00000214900 NA non_coding_transcript_exon_variant -0.010216 0.0824 0.00235 0.428477 0.575430405675517 0 NA NA 0.000975623 ENSE00001156207_004 ENSE00001156207 004 14 50555797 50555966 - 42 75 53 C A 50555882 328 85 TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTTCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA 50089078 50089248 50089163 50089164 50089164 exon 32 0.426666666666667 TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTTCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA mutant NA NA NA NA NA 364 29 0.916761499711008 1 0.958380749855504 NA NA 0.931833400746853 0.893354612846026 NA NA -0.0150719010358445 0.106645387153974 NA 0.912594006796439 NA 0.0457867430590646 NA FALSE NA 0.069 0.058 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-58E21.7 Clone_based_vega_gene NA ENST00000556019 1/5 1 NA GCA C,A 8.806e-05 14:50089164 LINC01588 HGNC Symbol lincRNA 165072 ENSG00000214900 NA non_coding_transcript_exon_variant 1.604393 0.17674 0.00557 0.428477 0.897313792921282 0 NA NA 6.87106e-05 ENSE00001156207_007 ENSE00001156207 007 14 50555797 50555966 - 42 75 53 T C 50555898 331 69 TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACGGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA 50089078 50089248 50089179 50089180 50089180 exon 16 0.213333333333333 TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACGGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA mutant NA NA NA NA NA 798 666 0.997232754733562 0.937114712520076 0.967173733626819 NA NA 0.931833400746853 0.893354612846026 NA NA 0.0653993539867095 0.0437600996740499 NA 0.912594006796439 NA 0.0545797268303797 NA FALSE NA 0 -1.268 . upstream_gene_variant MODIFIER RP11-58E21.7 Clone_based_vega_gene NA ENST00000556019 1 NA CTG T,C 8.83e-05 14:50089180 LINC01588 HGNC Symbol lincRNA 165072 ENSG00000214900 NA non_coding_transcript_exon_variant -0.13096 0.07418 0.00423 0.428477 0.500318166004758 0 NA NA 4.16534e-05 ENSE00001156207_008 ENSE00001156207 008 14 50555797 50555966 - 42 75 53 C T 50555901 332 66 TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGAACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA 50089078 50089248 50089182 50089183 50089183 exon 13 0.173333333333333 TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGAACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA TTGGGGACTGCTGGCTTAGACAATAGAAATTTTGTTGTTTAATTTTTTCACAGTTCTCGAGGCTGGACAGTCCAAGATCAAGGTGCCTGCATCTGGCGTCTAGTGTGGACCCTATTCCTGGTTTGCAGGTGGGTGTCTTCTTGCTGTGTCCTCACTTGGCAGAGAGAAAA mutant NA NA NA NA NA 738 55 0.959591327694385 0.997113535485147 0.978352431589766 NA NA 0.931833400746853 0.893354612846026 NA NA 0.027757926947533 0.10375892263912 NA 0.912594006796439 NA 0.0657584247933267 NA FALSE NA 0.003 0.828 . upstream_gene_variant MODIFIER RP11-58E21.7 Clone_based_vega_gene NA ENST00000556019 1 NA TCC C,T 4.427e-05 14:50089183 LINC01588 HGNC Symbol lincRNA 165072 ENSG00000214900 NA non_coding_transcript_exon_variant 0.429781 0.1001 0.02102 0.428477 0.973701384115185 0 NA NA 2.07277e-05 ENSE00001157489_000 ENSE00001157489 000 12 65138559 65138728 - 30 99 41 NA NA NA NA NA CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC 64744778 64744948 NA NA NA NA NA NA CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC natural 86 125 0.986967519912253 0.992317452441528 0.98964248617689 2517 5716 0.956474024602646 0.955182832871691 0.955828428737169 0.986967519912253 0.992317452441528 0.956474024602646 0.955182832871691 0 0 0 0 0.98964248617689 0.955828428737169 0 0 0 FALSE FALSE NA NA NA NA NA GNS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GNS NA NA NA ENSG00000135677 ENSE00003649956 NA NA NA NA NA NA NA 0.0829052963160252 FALSE NA ENSE00001157489_002 ENSE00001157489 002 12 65138559 65138728 - 30 99 41 T C 65138579 2420 150 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCGGAAGCTTTGTAGCTCTGTCC 64744778 64744948 64744798 64744799 64744799 downstr_intron 10 1.3448275862069 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCGGAAGCTTTGTAGCTCTGTCC CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC mutant 23 174 0.990154576605605 0.942712863422949 0.966433720014277 NA NA NA NA NA 0.986967519912253 0.992317452441528 0.956474024602646 0.955182832871691 0.00318705669335151 -0.0496045890185792 NA NA 0.98964248617689 0.955828428737169 -0.0232087661626139 NA NA NA FALSE 0 -0.515 . intron_variant MODIFIER GNS HGNC 4422 ENST00000545273 5/7 1 NA CTG T,C 0.0001235 12:64744799 GNS HGNC Symbol protein_coding 46002 ENSG00000135677 ENSE00003649956 intron_variant 0.172731 0.22904 0.02819 0.322412 0.580341592606879 0.136568 0.0829052963160252 FALSE 0.000154367 ENSE00001157489_004 ENSE00001157489 004 12 65138559 65138728 - 30 99 41 A G 65138595 2422 134 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGACGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC 64744778 64744948 64744814 64744815 64744815 exon -7 0.939393939393939 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGACGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC mutant NA NA NA NA NA 609 510 1 0.996016916323911 0.998008458161955 0.986967519912253 0.992317452441528 0.956474024602646 0.955182832871691 NA NA 0.0435259753973539 0.0408340834522195 0.98964248617689 0.955828428737169 NA 0.0421800294247867 NA FALSE NA 0.993 0.599 . synonymous_variant LOW GNS HGNC 4422 ENST00000545273 5/8 1 NA CAT A,G 8.236e-06 12:64744815 GNS HGNC Symbol protein_coding 46002 ENSG00000135677 ENSE00003649956 synonymous_variant -0.308208 0.97382 0.89333 0.732398 0.52295882387233 0 0.0829052963160252 FALSE 4.06154e-06 ENSE00001157489_005 ENSE00001157489 005 12 65138559 65138728 - 30 99 41 A G 65138618 2423 111 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACCATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC 64744778 64744948 64744837 64744838 64744838 exon -30 0.707070707070707 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACCATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC mutant 15 18 0.999423268122769 1 0.999711634061384 683 1779 0.995795993051856 0.997694896281324 0.99674544466659 0.986967519912253 0.992317452441528 0.956474024602646 0.955182832871691 0.0124557482105155 0.0076825475584722 0.0393219684492094 0.0425120634096325 0.98964248617689 0.955828428737169 0.0100691478844939 0.040917015929421 0.0308478680449271 FALSE FALSE 1 9.201 . missense_variant MODERATE GNS HGNC 4422 ENST00000545273 5/8 1 NA TAG A,G 8.236e-06 12:64744838 GNS HGNC Symbol protein_coding 46002 ENSG00000135677 ENSE00003649956 missense_variant 5.624872 0.99423 0.99321 0.730579 0.998740024745265 0 0.0829052963160252 FALSE 4.06167e-06 ENSE00001157489_009 ENSE00001157489 009 12 65138559 65138728 - 30 99 41 T C 65138651 2427 78 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTGTCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC 64744778 64744948 64744870 64744871 64744871 exon 37 0.373737373737374 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTGTCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC mutant NA NA NA NA NA 87 83 1 1 1 0.986967519912253 0.992317452441528 0.956474024602646 0.955182832871691 NA NA 0.0435259753973539 0.0448171671283086 0.98964248617689 0.955828428737169 NA 0.0441715712628313 NA FALSE NA 0.876 1.566 . missense_variant MODERATE GNS HGNC 4422 ENST00000545273 5/8 1 NA ATA T,C 8.236e-06 12:64744871 GNS HGNC Symbol protein_coding 46002 ENSG00000135677 ENSE00003649956 missense_variant 1.370968 0.98593 0.76203 0.730579 0.984758151702496 0 0.0829052963160252 FALSE 1.21854e-05 ENSE00001157489_012 ENSE00001157489 012 12 65138559 65138728 - 30 99 41 T C 65138665 2430 64 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAGTTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC 64744778 64744948 64744884 64744885 64744885 exon 23 0.232323232323232 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAGTTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC mutant NA NA NA NA NA 1610 835 0.998378428414173 1 0.999189214207087 0.986967519912253 0.992317452441528 0.956474024602646 0.955182832871691 NA NA 0.0419044038115274 0.0448171671283086 0.98964248617689 0.955828428737169 NA 0.043360785469918 NA FALSE NA 1 7.924 . missense_variant MODERATE GNS HGNC 4422 ENST00000545273 5/8 1 NA ATT T,C 8.236e-06 12:64744885 GNS HGNC Symbol protein_coding 46002 ENSG00000135677 ENSE00003649956 missense_variant 5.458265 0.99401 0.98845 0.730579 0.998873427775511 0 0.0829052963160252 FALSE 4.06223e-06 ENSE00001157489_014 ENSE00001157489 014 12 65138559 65138728 - 30 99 41 T C 65138685 2432 44 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAGAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC 64744778 64744948 64744904 64744905 64744905 exon 3 0.0303030303030303 CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAGAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC mutant NA NA NA NA NA 55 515 1 0.996365824691279 0.998182912345639 0.986967519912253 0.992317452441528 0.956474024602646 0.955182832871691 NA NA 0.0435259753973539 0.0411829918195875 0.98964248617689 0.955828428737169 NA 0.0423544836084707 NA FALSE NA 0.997 0.475 . splice_region_variant&synonymous_variant LOW GNS HGNC 4422 ENST00000545273 5/8 1 NA TTT T,C 1.647e-05 12:64744905 GNS HGNC Symbol protein_coding 46002 ENSG00000135677 ENSE00003649956 splice_region_variant 1.179724 0.98118 0.75428 0.730579 0.739356271401057 0 0.0829052963160252 FALSE 1.21967e-05 ENSE00001157489_BRK ENSE00001157489 BRK 12 65138559 65138728 - 30 99 41 A,G; T,T NA NA NA CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATTTGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGCCGAGTTGCAGAAGCTTTGTAGCTCTGTCC 64744778 64744948 NA NA NA NA NA NA CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATTTGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGCCGAGTTGCAGAAGCTTTGTAGCTCTGTCC CACTGACCTCATAACAAATTTGACTTTCCTCTTTTTAATAGGAAAAGAATTCTAAGTATTATAATTACACCCTGTCTATCAATGGGAAGGCACGGAAGCATGGTGAAAACTATAGTGTGGACTACCTGACAGATGTTTTGGTGAGTTGCAGAAGCTTTGTAGCTCTGTCC control 230 64 0 0 0 65 357 0 0 0 0.986967519912253 0.992317452441528 0.956474024602646 0.955182832871691 -0.986967519912253 -0.992317452441528 -0.956474024602646 -0.955182832871691 0.98964248617689 0.955828428737169 -0.98964248617689 -0.955828428737169 0.0338140574397217 TRUE TRUE NA NA NA NA NA GNS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GNS NA NA NA ENSG00000135677 ENSE00003649956 NA NA NA NA NA NA NA 0.0829052963160252 FALSE NA ENSE00001159547_000 ENSE00001159547 000 15 83519864 83520033 - 39 81 50 NA NA NA NA NA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA 82851111 82851281 NA NA NA NA NA NA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA natural 14 19 0.982148091024687 0.85 0.916074045512343 1577 314 0.946667768260538 0.931671509206999 0.939169638733768 0.982148091024687 0.85 0.946667768260538 0.931671509206999 0 0 0 0 0.916074045512343 0.939169638733768 0 0 0 FALSE FALSE NA NA NA NA NA HOMER2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HOMER2 NA NA NA ENSG00000103942 ENSE00003687759 NA NA NA NA NA NA NA 0.0545468794795003 FALSE NA ENSE00001159547_004 ENSE00001159547 004 15 83519864 83520033 - 39 81 50 C T 83519926 2290 108 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCAAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA 82851111 82851281 82851173 82851174 82851174 exon -24 0.716049382716049 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCAAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA mutant NA NA NA NA NA 185 138 0.8 0.8 0.8 0.982148091024687 0.85 0.946667768260538 0.931671509206999 NA NA -0.146667768260538 -0.131671509206999 0.916074045512343 0.939169638733768 NA -0.139169638733768 NA FALSE NA 1 6.802 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HOMER2 HGNC 17513 ENST00000558552 2/3 1 NA TCG C,T 1.672e-05 15:82851174 HOMER2 HGNC Symbol protein_coding 149207 ENSG00000103942 ENSE00003687759 missense_variant 4.913135 0.96526 0.95794 0.706298 0.998084443726359 0 0.0545468794795003 FALSE NA ENSE00001159547_005 ENSE00001159547 005 15 83519864 83520033 - 39 81 50 G A 83519927 2291 107 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGTGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA 82851111 82851281 82851174 82851175 82851175 exon -25 0.703703703703704 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGTGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA mutant NA NA NA NA NA 343 98 0.997330133699585 0.973273358094466 0.985301745897025 0.982148091024687 0.85 0.946667768260538 0.931671509206999 NA NA 0.0506623654390462 0.0416018488874674 0.916074045512343 0.939169638733768 NA 0.0461321071632568 NA FALSE NA 1 2.961 rs74416301 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HOMER2 HGNC 17513 ENST00000558552 2/3 rs74416301 1 A:0.0058 A:0.0015 A:0.013 NA A:0 A:0.0119 A:0.0061 A:0.0023 A:0.0185 CGC G,A 0.008717 15:82851175 HOMER2 HGNC Symbol protein_coding 149207 ENSG00000103942 ENSE00003687759 synonymous_variant 1.383677 0.86946 0.14208 0.706298 0.488563525714795 0 0.0545468794795003 FALSE 0.0103329 ENSE00001159547_008 ENSE00001159547 008 15 83519864 83520033 - 39 81 50 G A 83519941 2294 93 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGTTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA 82851111 82851281 82851188 82851189 82851189 exon -39 0.530864197530864 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGTTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA mutant NA NA NA NA NA 679 146 0.996929564246614 1 0.998464782123307 0.982148091024687 0.85 0.946667768260538 0.931671509206999 NA NA 0.0502617959860757 0.0683284907930014 0.916074045512343 0.939169638733768 NA 0.0592951433895386 NA FALSE NA 1 6.794 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HOMER2 HGNC 17513 ENST00000558552 2/3 1 NA AGC G,A 8.414e-06 15:82851189 HOMER2 HGNC Symbol protein_coding 149207 ENSG00000103942 ENSE00003687759 missense_variant 5.148849 0.99326 0.98534 0.706298 0.99877799536778 0 0.0545468794795003 FALSE NA ENSE00001159547_009 ENSE00001159547 009 15 83519864 83520033 - 39 81 50 A G 83519949 2295 85 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCACACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA 82851111 82851281 82851196 82851197 82851197 exon 35 0.432098765432099 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCACACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA mutant NA NA NA NA NA 20 107 1 1 1 0.982148091024687 0.85 0.946667768260538 0.931671509206999 NA NA 0.0533322317394616 0.0683284907930014 0.916074045512343 0.939169638733768 NA 0.0608303612662315 NA FALSE NA 1 8.139 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HOMER2 HGNC 17513 ENST00000558552 2/3 1 NA TAT A,G 8.439e-06 15:82851197 HOMER2 HGNC Symbol protein_coding 149207 ENSG00000103942 ENSE00003687759 missense_variant 2.739238 0.99132 0.9923 0.706298 0.959816699147914 0 0.0545468794795003 FALSE NA ENSE00001159547_010 ENSE00001159547 010 15 83519864 83520033 - 39 81 50 T C 83519953 2296 81 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAGTCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA 82851111 82851281 82851200 82851201 82851201 exon 31 0.382716049382716 TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAGTCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA mutant NA NA NA NA NA 152 213 1 1 1 0.982148091024687 0.85 0.946667768260538 0.931671509206999 NA NA 0.0533322317394616 0.0683284907930014 0.916074045512343 0.939169638733768 NA 0.0608303612662315 NA FALSE NA 1 2.657 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HOMER2 HGNC 17513 ENST00000558552 2/3 rs373795200 1 NA ATT T,C 0.0002122 15:82851201 HOMER2 HGNC Symbol protein_coding 149207 ENSG00000103942 ENSE00003687759 missense_variant 1.494105 0.98028 0.95712 0.706298 0.946027746810452 0 0.0545468794795003 FALSE 0.000290073 ENSE00001159547_013 ENSE00001159547 013 15 83519864 83520033 - 39 81 50 A C 83520009 2299 25 TATTTTATCTGACTTGCTTTCATGGTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA 82851111 82851281 82851256 82851257 82851257 upstr_intron -26 -0.5 TATTTTATCTGACTTGCTTTCATGGTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA mutant NA NA NA NA NA 176 142 1 0.95 0.975 0.982148091024687 0.85 0.946667768260538 0.931671509206999 NA NA 0.0533322317394616 0.0183284907930014 0.916074045512343 0.939169638733768 NA 0.0358303612662315 NA FALSE NA 0.001 0.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:82851257 HOMER2 HGNC Symbol protein_coding 149207 ENSG00000103942 ENSE00003687759 intron_variant 0.078815 0.23887 0.1784 0.080785 0.598516270955807 0.0753167 0.0545468794795003 FALSE 1.31101e-05 ENSE00001159547_014 ENSE00001159547 014 15 83519864 83520033 - 39 81 50 A G 83520009 2300 25 TATTTTATCTGACTTGCTTTCATGCTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA 82851111 82851281 82851256 82851257 82851257 upstr_intron -26 -0.5 TATTTTATCTGACTTGCTTTCATGCTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA TATTTTATCTGACTTGCTTTCATGTTCTATCTCAAATTTTTTTCATGTAGGAGCTGAAAGATCTCCGAAAACAAAGTGAAATCATACCTCAGCTCATGTCAGAGTGCGAATATGTCTCTGAGAAGCTAGAGGTACGTGGGTTGGGGGCACAGCCATCCTGGCTCAGACAA mutant 28 93 0.85 0.85 0.85 816 629 0.79252000849163 0.83895024952465 0.81573512900814 0.982148091024687 0.85 0.946667768260538 0.931671509206999 -0.132148091024687 0 -0.154147759768909 -0.0927212596823481 0.916074045512343 0.939169638733768 -0.0660740455123434 -0.123434509725628 0.057360464213285 FALSE FALSE 0.001 0.8 NA NA NA HOMER2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HOMER2 NA NA NA ENSG00000103942 ENSE00003687759 intron_variant 0.32283 0.22865 0.09799 0.080785 0.540005395079443 0.0753167 0.0545468794795003 FALSE 1.31101e-05 ENSE00001159851_000 ENSE00001159851 000 1 112322812 112322981 - 35 90 45 NA NA NA NA NA CGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTT 111780189 111780359 NA NA NA NA NA NA AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG natural 19 14 0.995416325990818 0.988126202542997 0.991771264266907 1104 811 0.986475320454854 0.950119332491019 0.968297326472936 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 0 0 0 0 0.991771264266907 0.968297326472936 0 0 0 FALSE FALSE NA NA NA NA NA KCND3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCND3 NA NA NA ENSG00000171385 ENSE00001159851 NA NA NA NA NA NA NA 0.803752595406802 FALSE NA ENSE00001159851_001 ENSE00001159851 001 1 112322812 112322981 - 35 90 45 G A 112322824 3087 158 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACTTCCTTTTCATCG 111780189 111780359 111780201 111780202 111780202 downstr_intron 23 1.67647058823529 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACTTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 2154 101 0.789000140134985 0.979002455223882 0.884001297679434 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA -0.197475180319869 0.0288831227328632 0.991771264266907 0.968297326472936 NA -0.0842960287935028 NA FALSE NA 0 -0.822 . intron_variant MODIFIER KCND3 HGNC 6239 ENST00000369697 4/5 rs552944853 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G,A 8.332e-06 1:111780202 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 intron_variant 0.799446 0.17696 0.02722 0.061011 0.773080957157696 0.0902238 0.803752595406802 FALSE NA ENSE00001159851_002 ENSE00001159851 002 1 112322812 112322981 - 35 90 45 A G 112322847 3088 135 CGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACGGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTT 111780189 111780359 111780224 111780225 111780225 exon -1 1 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACCGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant 11 61 0.990865798878295 0.969047728905434 0.979956763891864 340 711 1 1 1 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 -0.00455052711252257 -0.0190784736375632 0.0135246795451461 0.0498806675089811 0.991771264266907 0.968297326472936 -0.0118145003750429 0.0317026735270636 0.0435171739021065 FALSE FALSE 1 1.504 . splice_region_variant&synonymous_variant LOW KCND3 HGNC 6239 ENST00000369697 4/6 1 NA CAG A,G 8.277e-06 1:111780225 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 splice_region_variant 1.264921 0.97834 0.87692 0.487112 0.913756042649096 0 0.803752595406802 FALSE NA ENSE00001159851_004 ENSE00001159851 004 1 112322812 112322981 - 35 90 45 G A 112322867 3090 115 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGTACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG 111780189 111780359 111780244 111780245 111780245 exon -21 0.777777777777778 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGTACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 544 98 0.997785278974796 0.998382755366598 0.998084017170697 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA 0.0113099585199422 0.0482634228755791 0.991771264266907 0.968297326472936 NA 0.0297866906977606 NA FALSE NA 1 7.27 . missense_variant MODERATE KCND3 HGNC 6239 ENST00000369697 4/6 1 tolerated(0.1) possibly_damaging(0.699) NA TGC G,A 8.262e-06 1:111780245 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 missense_variant 4.362911 0.98854 0.98176 0.487112 0.997237220765089 0 0.803752595406802 FALSE NA ENSE00001159851_005 ENSE00001159851 005 1 112322812 112322981 - 35 90 45 G A 112322892 3091 90 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATTGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG 111780189 111780359 111780269 111780270 111780270 exon 45 0.5 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATTGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 591 413 0.996611868135028 0.996130214177262 0.996371041156145 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA 0.0101365476801744 0.0460108816862427 0.991771264266907 0.968297326472936 NA 0.0280737146832085 NA FALSE NA 0.55 -0.251 . synonymous_variant LOW KCND3 HGNC 6239 ENST00000369697 4/6 rs374945628&COSM3471299&COSM3471298 1 NA A:0.0002 A:0 CGA G,A 3.31e-05 1:111780270 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 synonymous_variant 1.987241 0.94029 0.32289 0.487112 0.762070759318355 0 0.803752595406802 FALSE NA ENSE00001159851_006 ENSE00001159851 006 1 112322812 112322981 - 35 90 45 C T 112322907 3092 75 CGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTTTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTT 111780189 111780359 111780284 111780285 111780285 exon 30 0.333333333333333 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAAACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 350 243 0.998244022067465 1 0.999122011033733 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA 0.0117687016126113 0.0498806675089811 0.991771264266907 0.968297326472936 NA 0.0308246845607962 NA FALSE NA 1 1.7 . synonymous_variant LOW KCND3 HGNC 6239 ENST00000369697 4/6 1 NA TCT C,T 8.303e-06 1:111780285 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 synonymous_variant 2.009554 0.96717 0.72228 0.487112 0.689497431445136 0 0.803752595406802 FALSE NA ENSE00001159851_007 ENSE00001159851 007 1 112322812 112322981 - 35 90 45 G T 112322932 3093 50 CGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGTTGCCCTAGTAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTT 111780189 111780359 111780309 111780310 111780310 exon 5 0.0555555555555556 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCAACCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 525 167 1 0.994823662771411 0.997411831385705 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA 0.0135246795451461 0.0447043302803918 0.991771264266907 0.968297326472936 NA 0.029114504912769 NA FALSE NA 1 4.979 rs142506975 missense_variant MODERATE KCND3 HGNC 6239 ENST00000369697 4/6 rs142506975 1 tolerated_low_confidence(0.55) benign(0.002) NA T:0.0002 T:0 GGT G,T 8.51e-06 1:111780310 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 missense_variant 2.600579 0.99145 0.98359 0.487112 0.961757650000109 0 0.803752595406802 FALSE NA ENSE00001159851_008 ENSE00001159851 008 1 112322812 112322981 - 35 90 45 G A 112322940 3094 42 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTATTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG 111780189 111780359 111780317 111780318 111780318 upstr_intron -4 -0.0666666666666667 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTATTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 349 123 1 1 1 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA 0.0135246795451461 0.0498806675089811 0.991771264266907 0.968297326472936 NA 0.0317026735270636 NA FALSE NA 0 0.274 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:111780318 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 splice_region_variant 1.100577 0.20937 0.01568 0.061011 0.681680111040611 0.19873 0.803752595406802 FALSE 3.13869e-05 ENSE00001159851_009 ENSE00001159851 009 1 112322812 112322981 - 35 90 45 G T 112322940 3095 42 CGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTATTAAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTT 111780189 111780359 111780317 111780318 111780318 upstr_intron -4 -0.0666666666666667 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTAATAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 322 10 1 1 1 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA 0.0135246795451461 0.0498806675089811 0.991771264266907 0.968297326472936 NA 0.0317026735270636 NA FALSE NA 0 0.274 NA NA NA KCND3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCND3 NA NA NA ENSG00000171385 ENSE00001159851 splice_region_variant 0.984105 0.22474 0.08683 0.061011 0.726472955357083 0.19873 0.803752595406802 FALSE 2.51095e-05 ENSE00001159851_010 ENSE00001159851 010 1 112322812 112322981 - 35 90 45 A G 112322942 3096 40 CGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTGAAAAAAGAAGAGAGATTGAGTAAAAAGCTGGTGGCTCTT 111780189 111780359 111780319 111780320 111780320 upstr_intron -6 -0.111111111111111 AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTCACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 965 24 0.978677645923577 1 0.989338822961788 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA -0.007797674531277 0.0498806675089811 0.991771264266907 0.968297326472936 NA 0.0210414964888521 NA FALSE NA 0 -1.522 . splice_region_variant&intron_variant LOW KCND3 HGNC 6239 ENST00000369697 3/5 1 NA TAA A,G 8.698e-06 1:111780320 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 splice_region_variant 0.718733 0.18083 0.02771 0.061011 0.656276470184707 0.191856 0.803752595406802 FALSE 2.52988e-05 ENSE00001159851_011 ENSE00001159851 011 1 112322812 112322981 - 35 90 45 A G 112322950 3097 32 CGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAGGAGAGAGATTGAGTAAAAAGCTGGTGGCTCTT 111780189 111780359 111780327 111780328 111780328 upstr_intron -14 -0.288888888888889 AAGAGCCACCAGCTTTTTACTCAATCTCTCTCCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 1648 460 0.996270345453198 0.995362301759179 0.995816323606189 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA 0.00979502499834406 0.0452429692681604 0.991771264266907 0.968297326472936 NA 0.0275189971332522 NA FALSE NA 0 0.913 . intron_variant MODIFIER KCND3 HGNC 6239 ENST00000369697 3/5 1 NA GAA A,G 8.888e-06 1:111780328 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 intron_variant 1.077435 0.22673 0.03587 0.061011 0.860384210652949 0.128316 0.803752595406802 FALSE NA ENSE00001159851_012 ENSE00001159851 012 1 112322812 112322981 - 35 90 45 C T 112322970 3098 12 CGATGAAAAGGAGGTGGCAAAGGGCTGGGACTCACAGTGGTTTTTTCCAGGCAGTGCAGCAGGTGATGATGCTGGCTCTCGATGAGTGAGGTGGTCTTGCCCATGTGCTCCTCTTCTGGGGTGCCCTAGTAAAAAAAGAAGAGAGATTGAGTAAAAAGTTGGTGGCTCTT 111780189 111780359 111780347 111780348 111780348 upstr_intron -34 -0.733333333333333 AAGAGCCACCAACTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG AAGAGCCACCAGCTTTTTACTCAATCTCTCTTCTTTTTTTACTAGGGCACCCCAGAAGAGGAGCACATGGGCAAGACCACCTCACTCATCGAGAGCCAGCATCATCACCTGCTGCACTGCCTGGAAAAAACCACTGTGAGTCCCAGCCCTTTGCCACCTCCTTTTCATCG mutant NA NA NA NA NA 254 67 1 1 1 0.995416325990818 0.988126202542997 0.986475320454854 0.950119332491019 NA NA 0.0135246795451461 0.0498806675089811 0.991771264266907 0.968297326472936 NA 0.0317026735270636 NA FALSE NA 0 -0.486 rs72548728 intron_variant MODIFIER KCND3 HGNC 6239 ENST00000369697 3/5 rs72548728 1 T:0.0100 T:0.0378 T:0 NA T:0 T:0 T:0 T:0.0372 T:0.0001 GCT C,T 0.002365 1:111780348 KCND3 HGNC Symbol protein_coding 218493 ENSG00000171385 ENSE00001159851 intron_variant 0.600366 0.1614 0.02025 0.061011 0.62742149044238 0.0448725 0.803752595406802 FALSE 0.00257574 ENSE00001160227_000 ENSE00001160227 000 19 6417962 6418131 - 30 99 41 NA NA NA NA NA GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 NA NA NA NA NA NA GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC natural 138 129 0.999559143766972 0.997225294641332 0.998392219204152 400 1042 1 0.989138638616014 0.994569319308007 0.999559143766972 0.997225294641332 1 0.989138638616014 0 0 0 0 0.998392219204152 0.994569319308007 0 0 0 FALSE FALSE NA NA NA NA NA KHSRP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KHSRP NA NA NA ENSG00000088247 ENSE00003678451 NA NA NA NA NA NA NA 0.99971122153684 TRUE NA ENSE00001160227_001 ENSE00001160227 001 19 6417962 6418131 - 30 99 41 G A 6417980 454 152 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGTCCTGCCTTCACCCCCCTC 6417950 6418120 6417968 6417969 6417969 downstr_intron 12 1.41379310344828 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGTCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 130 203 1 0.999812307967868 0.999906153983934 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 0.0106736693518533 0.998392219204152 0.994569319308007 NA 0.00533683467592666 NA FALSE NA 0.001 0.323 . intron_variant MODIFIER KHSRP HGNC 6316 ENST00000599395 9/9 1 NA GGC G,A 8.255e-06 19:6417969 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 intron_variant 0.332954 0.21729 0.34188 0.283894 0.896686299128434 0.102173 0.99971122153684 TRUE 8.14246e-06 ENSE00001160227_002 ENSE00001160227 002 19 6417962 6418131 - 30 99 41 C T 6417985 455 147 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTATGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6417973 6417974 6417974 downstr_intron 7 1.24137931034483 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTATGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 450 137 1 0.995354052371602 0.997677026185801 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 0.00621541375558776 0.998392219204152 0.994569319308007 NA 0.00310770687779388 NA FALSE NA 0.005 0.576 . splice_region_variant&intron_variant LOW KHSRP HGNC 6316 ENST00000599395 9/9 1 NA ACA C,T 1.651e-05 19:6417974 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 splice_region_variant 0.815371 0.29299 0.19453 0.283894 0.863207011701575 0.151082 0.99971122153684 TRUE 8.13306e-06 ENSE00001160227_003 ENSE00001160227 003 19 6417962 6418131 - 30 99 41 A G 6417992 456 140 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGACGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6417980 6417981 6417981 exon -1 1 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGACGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 344 124 0.994074444412591 1 0.997037222206295 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.00592555558740948 0.0108613613839857 0.998392219204152 0.994569319308007 NA 0.00246790289828813 NA FALSE NA 0.448 -0.178 . splice_region_variant&synonymous_variant LOW KHSRP HGNC 6316 ENST00000599395 9/10 1 NA CAT A,G 8.253e-06 19:6417981 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 splice_region_variant -0.056842 0.90192 0.81681 0.67177 0.604603507588857 0 0.99971122153684 TRUE 8.12711e-06 ENSE00001160227_004 ENSE00001160227 004 19 6417962 6418131 - 30 99 41 G A 6417995 457 137 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATTGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6417983 6417984 6417984 exon -4 0.96969696969697 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATTGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 20 94 1 1 1 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 0.0108613613839857 0.998392219204152 0.994569319308007 NA 0.00543068069199287 NA FALSE NA 0.031 -1.754 . synonymous_variant LOW KHSRP HGNC 6316 ENST00000599395 9/10 rs201756205 1 A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 A:0 A:0.0013 CGA G,A 0.0008664 19:6417984 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 synonymous_variant 0.459721 0.12749 0.06665 0.67177 0.861243867428443 0 0.99971122153684 TRUE 0.000963094 ENSE00001160227_005 ENSE00001160227 005 19 6417962 6418131 - 30 99 41 C T 6418003 458 129 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCAGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6417991 6417992 6417992 exon -12 0.888888888888889 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCAGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 24 100 1 1 1 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 0.0108613613839857 0.998392219204152 0.994569319308007 NA 0.00543068069199287 NA FALSE NA 1 7.582 . missense_variant MODERATE KHSRP HGNC 6316 ENST00000599395 9/10 1 deleterious(0.03) benign(0.133) NA CCG C,T 8.249e-06 19:6417992 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 missense_variant 5.471831 0.97866 0.98869 0.67177 0.998522128228545 0 0.99971122153684 TRUE 4.06217e-06 ENSE00001160227_006 ENSE00001160227 006 19 6417962 6418131 - 30 99 41 G A 6418004 459 128 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGTGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6417992 6417993 6417993 exon -13 0.878787878787879 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGTGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 130 161 0.996790685379742 1 0.998395342689871 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.00320931462025753 0.0108613613839857 0.998392219204152 0.994569319308007 NA 0.00382602338186411 NA FALSE NA 0 -2.502 . synonymous_variant LOW KHSRP HGNC 6316 ENST00000599395 9/10 rs199559995 1 NA A:0 A:0.0001 CGC G,A 0.0001485 19:6417993 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 synonymous_variant 1.393161 0.59014 0.21742 0.67177 0.891176525302881 0 0.99971122153684 TRUE 0.000174683 ENSE00001160227_007 ENSE00001160227 007 19 6417962 6418131 - 30 99 41 C A 6418010 460 122 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGTATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6417998 6417999 6417999 exon -19 0.818181818181818 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGTATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 101 278 0.998479276597561 0.998340152580257 0.998409714588909 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.00152072340243947 0.00920151396424262 0.998392219204152 0.994569319308007 NA 0.00384039528090158 NA FALSE NA 0.985 0.211 . synonymous_variant LOW KHSRP HGNC 6316 ENST00000599395 9/10 rs376402652 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0012 A:0 TCC C,A 0.0001155 19:6417999 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 synonymous_variant 1.856178 0.92758 0.87116 0.67177 0.878136648124673 0 0.99971122153684 TRUE 8.52937e-05 ENSE00001160227_009 ENSE00001160227 009 19 6417962 6418131 - 30 99 41 G A 6418030 462 102 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACTGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418018 6418019 6418019 exon -39 0.616161616161616 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACTGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 186 131 0.982229893417063 0.988976152028503 0.985603022722783 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.0177701065829371 -0.000162486587511279 0.998392219204152 0.994569319308007 NA -0.00896629658522419 NA FALSE NA 1 3.743 . missense_variant MODERATE KHSRP HGNC 6316 ENST00000599395 9/10 1 deleterious(0.04) possibly_damaging(0.449) NA CGG G,A 8.249e-06 19:6418019 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 missense_variant 4.92692 0.93459 0.95043 0.67177 0.998686035348326 0 0.99971122153684 TRUE 4.06114e-06 ENSE00001160227_010 ENSE00001160227 010 19 6417962 6418131 - 30 99 41 C A 6418041 463 91 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGTCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418029 6418030 6418030 exon -50 0.505050505050505 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGTCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 2344 118 0.965189687793046 0.963468800568328 0.964329244180687 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.0348103122069541 -0.0256698380476867 0.998392219204152 0.994569319308007 NA -0.0302400751273204 NA FALSE NA 1 2.526 . missense_variant MODERATE KHSRP HGNC 6316 ENST00000599395 9/10 1 tolerated(0.06) probably_damaging(0.96) NA GCC C,A 8.25e-06 19:6418030 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 missense_variant 5.541458 0.94591 0.93332 0.67177 0.995860211637774 0 0.99971122153684 TRUE 4.06105e-06 ENSE00001160227_011 ENSE00001160227 011 19 6417962 6418131 - 30 99 41 C T 6418042 464 90 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCAGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418030 6418031 6418031 exon 49 0.494949494949495 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCAGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 160 85 1 1 1 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 0.0108613613839857 0.998392219204152 0.994569319308007 NA 0.00543068069199287 NA FALSE NA 1 5.868 . missense_variant MODERATE KHSRP HGNC 6316 ENST00000599395 9/10 1 tolerated(0.09) possibly_damaging(0.5) NA CCG C,T 8.25e-06 19:6418031 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 missense_variant 6.06186 0.95433 0.97058 0.67177 0.997637029258664 0 0.99971122153684 TRUE 4.06111e-06 ENSE00001160227_012 ENSE00001160227 012 19 6417962 6418131 - 30 99 41 G A 6418043 465 89 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGTGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418031 6418032 6418032 exon 48 0.484848484848485 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGTGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 338 141 0.984689435110102 1 0.992344717555051 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.0153105648898979 0.0108613613839857 0.998392219204152 0.994569319308007 NA -0.00222460175295608 NA FALSE NA 0 -3.102 . synonymous_variant LOW KHSRP HGNC 6316 ENST00000599395 9/10 rs369743548 1 NA A:0.0002 A:0 CGC G,A 8.25e-06 19:6418032 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 synonymous_variant 1.813852 0.16793 0.12115 0.67177 0.915132988047605 0 0.99971122153684 TRUE 2.03064e-05 ENSE00001160227_013 ENSE00001160227 013 19 6417962 6418131 - 30 99 41 T C 6418046 466 86 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAGGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418034 6418035 6418035 exon 45 0.454545454545455 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAGGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 197 195 0.998950789542323 0.989903199648233 0.994426994595278 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.0010492104576767 0.000764561032219002 0.998392219204152 0.994569319308007 NA -0.000142324712728847 NA FALSE NA 1 0.832 . synonymous_variant LOW KHSRP HGNC 6316 ENST00000599395 9/10 1 NA CTT T,C 2.475e-05 19:6418035 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 synonymous_variant 0.179087 0.84837 0.61608 0.67177 0.764533007619512 0 0.99971122153684 TRUE 2.84282e-05 ENSE00001160227_014 ENSE00001160227 014 19 6417962 6418131 - 30 99 41 C T 6418059 467 73 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCAGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418047 6418048 6418048 exon 32 0.323232323232323 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCAGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 192 168 0.973721967058086 1 0.986860983529043 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.0262780329419144 0.0108613613839857 0.998392219204152 0.994569319308007 NA -0.00770833577896435 NA FALSE NA 1 5.812 . missense_variant MODERATE KHSRP HGNC 6316 ENST00000599395 9/10 COSM3797661&COSM2727501 1 tolerated(0.05) benign(0.073) NA CCG C,T 1.65e-05 19:6418048 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 missense_variant 4.13446 0.94816 0.95684 0.67177 0.989746105355696 0 0.99971122153684 TRUE 8.12315e-06 ENSE00001160227_015 ENSE00001160227 015 19 6417962 6418131 - 30 99 41 G A 6418064 468 68 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATTCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418052 6418053 6418053 exon 27 0.272727272727273 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATTCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 150 15 0.901767443333104 1 0.950883721666552 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.0982325566668959 0.0108613613839857 0.998392219204152 0.994569319308007 NA -0.0436855976414551 NA FALSE NA 0.986 0.149 . synonymous_variant LOW KHSRP HGNC 6316 ENST00000599395 9/10 1 NA GGA G,A 1.65e-05 19:6418053 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 synonymous_variant 1.806091 0.89963 0.81681 0.67177 0.939285510809952 0 0.99971122153684 TRUE 1.21842e-05 ENSE00001160227_016 ENSE00001160227 016 19 6417962 6418131 - 30 99 41 G A 6418067 469 65 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGATATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418055 6418056 6418056 exon 24 0.242424242424242 GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGATATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 586 300 0.998427250224613 0.975508567392362 0.986967908808488 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.00157274977538735 -0.013630071223652 0.998392219204152 0.994569319308007 NA -0.00760141049951968 NA FALSE NA 1 1.54 . synonymous_variant LOW KHSRP HGNC 6316 ENST00000599395 9/10 1 NA TGT G,A 2.476e-05 19:6418056 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 synonymous_variant 1.262093 0.91546 0.78274 0.67177 0.928846974611948 0 0.99971122153684 TRUE 1.21844e-05 ENSE00001160227_019 ENSE00001160227 019 19 6417962 6418131 - 30 99 41 C A 6418102 472 30 GCAGGGCTCACCCATGGGGGCTGCTTCCTTTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418090 6418091 6418091 upstr_intron -12 -0.268292682926829 GCAGGGCTCACCCATGGGGGCTGCTTCCTTTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 535 135 0.999382991845716 0.998864358029687 0.999123674937702 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.000617008154283893 0.00972571941367317 0.998392219204152 0.994569319308007 NA 0.00455435562969464 NA FALSE NA 0 -1.205 . intron_variant MODIFIER KHSRP HGNC 6316 ENST00000599395 8/9 rs527799372 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 ACA C,A 0.0001404 19:6418091 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 intron_variant 1.996931 0.3066 0.26883 0.075938 0.931612551746583 0.264584 0.99971122153684 TRUE 0.000158722 ENSE00001160227_020 ENSE00001160227 020 19 6417962 6418131 - 30 99 41 G A 6418104 473 28 GCAGGGCTCACCCATGGGGGCTGCTTCTTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418092 6418093 6418093 upstr_intron -14 -0.317073170731707 GCAGGGCTCACCCATGGGGGCTGCTTCTTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 72 246 1 0.999356560109284 0.999678280054642 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 0.0102179214932694 0.998392219204152 0.994569319308007 NA 0.00510896074663469 NA FALSE NA 0 0.215 . intron_variant MODIFIER KHSRP HGNC 6316 ENST00000599395 8/9 1 NA AGG G,A 8.261e-06 19:6418093 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 intron_variant 0.214823 0.24693 0.14604 0.075938 0.889347182438908 0.133994 0.99971122153684 TRUE 8.14186e-06 ENSE00001160227_021 ENSE00001160227 021 19 6417962 6418131 - 30 99 41 G A 6418108 474 24 GCAGGGCTCACCCATGGGGGCTGTTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418096 6418097 6418097 upstr_intron -18 -0.414634146341463 GCAGGGCTCACCCATGGGGGCTGTTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 32 470 1 1 1 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 0.0108613613839857 0.998392219204152 0.994569319308007 NA 0.00543068069199287 NA FALSE NA 0 -0.197 . intron_variant MODIFIER KHSRP HGNC 6316 ENST00000599395 8/9 rs201367112 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGC G,A 4.131e-05 19:6418097 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 intron_variant 0.204127 0.17931 0.07445 0.075938 0.626903627742135 0.079188 0.99971122153684 TRUE 5.29821e-05 ENSE00001160227_024 ENSE00001160227 024 19 6417962 6418131 - 30 99 41 C T 6418115 477 17 GCAGGGCTCACCCATGAGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418103 6418104 6418104 upstr_intron -25 -0.585365853658537 GCAGGGCTCACCCATGAGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 773 696 1 0.992196487818921 0.996098243909461 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 0.00305784920290708 0.998392219204152 0.994569319308007 NA 0.00152892460145354 NA FALSE NA 0 -0.257 . intron_variant MODIFIER KHSRP HGNC 6316 ENST00000599395 8/9 1 NA CCC C,T 8.264e-06 19:6418104 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 intron_variant 0.041586 0.14133 0.10389 0.075938 0.59634453703874 0.079188 0.99971122153684 TRUE 8.18357e-06 ENSE00001160227_025 ENSE00001160227 025 19 6417962 6418131 - 30 99 41 T C 6418118 478 14 GCAGGGCTCACCCGTGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418106 6418107 6418107 upstr_intron -28 -0.658536585365854 GCAGGGCTCACCCGTGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 72 241 1 0.983241155642257 0.991620577821128 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA 0 -0.00589748297375725 0.998392219204152 0.994569319308007 NA -0.00294874148687863 NA FALSE NA 0 -4.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:6418107 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 intron_variant -0.255349 0.18053 0.01968 0.075938 0.342830166961038 0.079188 0.99971122153684 TRUE 6.1418e-05 ENSE00001160227_026 ENSE00001160227 026 19 6417962 6418131 - 30 99 41 T G 6418118 479 14 GCAGGGCTCACCCCTGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418106 6418107 6418107 upstr_intron -28 -0.658536585365854 GCAGGGCTCACCCCTGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 123 38 0.979441383938722 1 0.989720691969361 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.0205586160612781 0.0108613613839857 0.998392219204152 0.994569319308007 NA -0.00484862733864616 NA FALSE NA 0 -4.022 NA NA NA KHSRP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KHSRP NA NA NA ENSG00000088247 ENSE00003678451 intron_variant -0.107918 0.2231 0.11516 0.075938 0.414256050595836 0.079188 0.99971122153684 TRUE 1.22836e-05 ENSE00001160227_027 ENSE00001160227 027 19 6417962 6418131 - 30 99 41 G A 6418121 480 11 GCAGGGCTCATCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 6418109 6418110 6418110 upstr_intron -31 -0.731707317073171 GCAGGGCTCATCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC mutant NA NA NA NA NA 327 104 0.998120158655522 0.986061412887248 0.992090785771385 0.999559143766972 0.997225294641332 1 0.989138638616014 NA NA -0.00187984134447838 -0.00307722572876579 0.998392219204152 0.994569319308007 NA -0.00247853353662209 NA FALSE NA 0 0.173 . intron_variant MODIFIER KHSRP HGNC 6316 ENST00000599395 8/9 rs376982030 1 NA A:0 A:0.0001 GGT G,A 0.0001405 19:6418110 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003678451 intron_variant 0.138165 0.20962 0.11436 0.075938 0.613446319176339 0.079188 0.99971122153684 TRUE 0.000135655 ENSE00001160227_BRK ENSE00001160227 BRK 19 6417962 6418131 - 30 99 41 A,G; T,T NA NA NA GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCTTCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATCCGAGTGTGGGCCCTGCCTTCACCCCCCTC 6417950 6418120 NA NA NA NA NA NA GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCTTCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATCCGAGTGTGGGCCCTGCCTTCACCCCCCTC GCAGGGCTCACCCATGGGGGCTGCTTCCTGTGTGTTTGCAGCAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGATGTGAGTGTGGGCCCTGCCTTCACCCCCCTC control 97 56 0.85 0.902563423297556 0.876281711648778 NA NA NA NA NA 0.999559143766972 0.997225294641332 1 0.989138638616014 -0.149559143766972 -0.0946618713437765 NA NA 0.998392219204152 0.994569319308007 -0.122110507555374 NA NA NA FALSE NA NA NA NA NA KHSRP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KHSRP NA NA NA ENSG00000088247 ENSE00003678451 NA NA NA NA NA NA NA 0.99971122153684 TRUE NA ENSE00001160234_000 ENSE00001160234 000 19 6418464 6418633 - 30 99 41 NA NA NA NA NA ACCCCCTCCACCACCCCAGGGCGTGCTCACCTGCACTTTGTAAGGATCCCCAATGATGCGGAGAGGTTTGTCCACATTCGTATTCTGAGATCCGTCCTGAATTAAGATCATCTTCACTCCAGCGCGTTCCTTTACAAGCAAGGTTAACCGTTAGTGCTGGGCTCTCCCAG 6418452 6418622 NA NA NA NA NA NA CTGGGAGAGCCCAGCACTAACGGTTAACCTTGCTTGTAAAGGAACGCGCTGGAGTGAAGATGATCTTAATTCAGGACGGATCTCAGAATACGAATGTGGACAAACCTCTCCGCATCATTGGGGATCCTTACAAAGTGCAGGTGAGCACGCCCTGGGGTGGTGGAGGGGGT CTGGGAGAGCCCAGCACTAACGGTTAACCTTGCTTGTAAAGGAACGCGCTGGAGTGAAGATGATCTTAATTCAGGACGGATCTCAGAATACGAATGTGGACAAACCTCTCCGCATCATTGGGGATCCTTACAAAGTGCAGGTGAGCACGCCCTGGGGTGGTGGAGGGGGT natural 57 35 0.988904398739511 0.997407911125839 0.993156154932675 628 318 0.929796126023203 0.999502340535495 0.964649233279349 0.988904398739511 0.997407911125839 0.929796126023203 0.999502340535495 0 0 0 0 0.993156154932675 0.964649233279349 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KHSRP NA NA NA ENSG00000088247 ENSE00003610219 NA NA NA NA NA NA NA 0.99971122153684 TRUE NA ENSE00001160234_003 ENSE00001160234 003 19 6418464 6418633 - 30 99 41 G T 6418486 483 148 ACCCCCTCCACCACCCCAGGGCTTGCTCACCTGCACTTTGTAAGGATCCCCAATGATGCGGAGAGGTTTGTCCACATTCGTATTCTGAGATCCGTCCTGAATTAAGATCATCTTCACTCCAGCGCGTTCCTTTACAAGCAAGGTTAACCGTTAGTGCTGGGCTCTCCCAG 6418452 6418622 6418474 6418475 6418475 downstr_intron 8 1.27586206896552 CTGGGAGAGCCCAGCACTAACGGTTAACCTTGCTTGTAAAGGAACGCGCTGGAGTGAAGATGATCTTAATTCAGGACGGATCTCAGAATACGAATGTGGACAAACCTCTCCGCATCATTGGGGATCCTTACAAAGTGCAGGTGAGCAAGCCCTGGGGTGGTGGAGGGGGT CTGGGAGAGCCCAGCACTAACGGTTAACCTTGCTTGTAAAGGAACGCGCTGGAGTGAAGATGATCTTAATTCAGGACGGATCTCAGAATACGAATGTGGACAAACCTCTCCGCATCATTGGGGATCCTTACAAAGTGCAGGTGAGCACGCCCTGGGGTGGTGGAGGGGGT mutant NA NA NA NA NA 15 168 0.8 1 0.9 0.988904398739511 0.997407911125839 0.929796126023203 0.999502340535495 NA NA -0.129796126023203 0.000497659464504863 0.993156154932675 0.964649233279349 NA -0.0646492332793492 NA FALSE NA 0 0.274 NA NA NA KHSRP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:6418475 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003610219 splice_region_variant -0.201673 0.18297 0.15484 0.283894 0.471678805974017 0.0900034 0.99971122153684 TRUE 7.77662e-05 ENSE00001160234_015 ENSE00001160234 015 19 6418464 6418633 - 30 99 41 T C 6418547 495 87 ACCCCCTCCACCACCCCAGGGCGTGCTCACCTGCACTTTGTAAGGATCCCCAATGATGCGGAGAGGTTTGTCCACATTCGTATCCTGAGATCCGTCCTGAATTAAGATCATCTTCACTCCAGCGCGTTCCTTTACAAGCAAGGTTAACCGTTAGTGCTGGGCTCTCCCAG 6418452 6418622 6418535 6418536 6418536 exon 46 0.464646464646465 CTGGGAGAGCCCAGCACTAACGGTTAACCTTGCTTGTAAAGGAACGCGCTGGAGTGAAGATGATCTTAATTCAGGACGGATCTCAGGATACGAATGTGGACAAACCTCTCCGCATCATTGGGGATCCTTACAAAGTGCAGGTGAGCACGCCCTGGGGTGGTGGAGGGGGT CTGGGAGAGCCCAGCACTAACGGTTAACCTTGCTTGTAAAGGAACGCGCTGGAGTGAAGATGATCTTAATTCAGGACGGATCTCAGAATACGAATGTGGACAAACCTCTCCGCATCATTGGGGATCCTTACAAAGTGCAGGTGAGCACGCCCTGGGGTGGTGGAGGGGGT mutant NA NA NA NA NA 21 341 1 1 1 0.988904398739511 0.997407911125839 0.929796126023203 0.999502340535495 NA NA 0.0702038739767967 0.000497659464504863 0.993156154932675 0.964649233279349 NA 0.0353507667206508 NA FALSE NA 0.961 1.621 . missense_variant MODERATE KHSRP HGNC 6316 ENST00000599395 8/10 1 tolerated(0.25) benign(0.235) NA TTC T,C 8.261e-06 19:6418536 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003610219 missense_variant 3.415661 0.93953 0.8619 0.706548 0.994756753219546 0 0.99971122153684 TRUE 4.06147e-06 ENSE00001160234_023 ENSE00001160234 023 19 6418464 6418633 - 30 99 41 G A 6418617 503 17 ACCCCCTCCACCACCCCAGGGCGTGCTCACCTGCACTTTGTAAGGATCCCCAATGATGCGGAGAGGTTTGTCCACATTCGTATTCTGAGATCCGTCCTGAATTAAGATCATCTTCACTCCAGCGCGTTCCTTTACAAGCAAGGTTAACCGTTAATGCTGGGCTCTCCCAG 6418452 6418622 6418605 6418606 6418606 upstr_intron -25 -0.585365853658537 CTGGGAGAGCCCAGCATTAACGGTTAACCTTGCTTGTAAAGGAACGCGCTGGAGTGAAGATGATCTTAATTCAGGACGGATCTCAGAATACGAATGTGGACAAACCTCTCCGCATCATTGGGGATCCTTACAAAGTGCAGGTGAGCACGCCCTGGGGTGGTGGAGGGGGT CTGGGAGAGCCCAGCACTAACGGTTAACCTTGCTTGTAAAGGAACGCGCTGGAGTGAAGATGATCTTAATTCAGGACGGATCTCAGAATACGAATGTGGACAAACCTCTCCGCATCATTGGGGATCCTTACAAAGTGCAGGTGAGCACGCCCTGGGGTGGTGGAGGGGGT mutant NA NA NA NA NA 44 50 1 1 1 0.988904398739511 0.997407911125839 0.929796126023203 0.999502340535495 NA NA 0.0702038739767967 0.000497659464504863 0.993156154932675 0.964649233279349 NA 0.0353507667206508 NA FALSE NA 0.001 1.138 . intron_variant MODIFIER KHSRP HGNC 6316 ENST00000599395 7/9 1 NA AGT G,A 8.257e-06 19:6418606 KHSRP HGNC Symbol protein_coding 11446 ENSG00000088247 ENSE00003610219 intron_variant 0.423204 0.28644 0.32138 0.115753 0.708251222598476 0.666171 0.99971122153684 TRUE 4.06362e-06 ENSE00001160303_000 ENSE00001160303 000 3 14188755 14188924 - 35 90 45 NA NA NA NA NA TGAGCTTGTCTTCTCTGCAAAGAACCTGCACTGACCTTGGGCCCGTAGCGACGCTTCAGCCTCTCCCTGATGAGCAGACCTTTGGCCAGCAACTTCCAGTTCCCTAGAGCCCGCTTCTCCTTTTTCTGCAGGCAAAAATGAAGTGGGAGAAAAGTGTTAAGCACTGACAT 14147254 14147424 NA NA NA NA NA NA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA ATGTCAGTGCTTAACACTTTTCTCCCACTTCATTTTTGCCTGCAGAAAAAGGAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGGCTGAAGCGTCGCTACGGGCCCAAGGTCAGTGCAGGTTCTTTGCAGAGAAGACAAGCTCA natural NA NA NA NA NA 2418 967 0.974230302361629 0.98357569304233 0.97890299770198 NA NA 0.974230302361629 0.98357569304233 NA NA 0 0 NA 0.97890299770198 NA 0 NA FALSE NA NA NA NA NA NA TMEM43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPC NA NA NA ENSG00000154767 ENSE00003687231 NA NA NA NA NA NA NA 1.31713341793089e-10 FALSE NA ENSE00001160371_000 ENSE00001160371 000 3 14201206 14201375 - 35 90 45 NA NA NA NA NA TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA 14159705 14159875 NA NA NA NA NA NA TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA natural NA NA NA NA NA 656 1702 0.906992193775888 0.998674277923459 0.952833235849673 NA NA 0.906992193775888 0.998674277923459 NA NA 0 0 NA 0.952833235849673 NA 0 NA FALSE NA NA NA NA NA NA XPC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPC NA NA NA ENSG00000154767 ENSE00003633829 NA NA NA NA NA NA NA 1.31713341793089e-10 FALSE NA ENSE00001160718_000 ENSE00001160718 000 13 74518083 74518252 - 35 90 45 NA NA NA NA NA TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 NA NA NA NA NA NA TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT natural 79 34 0.990457929011256 0.968514761000678 0.979486345005967 2195 3088 0.994131443807747 0.946993809596206 0.970562626701976 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 0 0 0 0 0.979486345005967 0.970562626701976 0 0 0 FALSE FALSE NA NA NA NA NA KLF12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KLF12 NA NA NA ENSG00000118922 ENSE00003752135 NA NA NA NA NA NA NA 0.982233162437981 TRUE NA ENSE00001160718_001 ENSE00001160718 001 13 74518083 74518252 - 35 90 45 G A 74518093 181 160 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCTCCACTCCTTT 73943945 73944115 73943955 73943956 73943956 downstr_intron 25 1.73529411764706 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCTCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 142 790 0.967047881500092 0.942369138686826 0.954708510093459 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.0270835623076541 -0.00462467090938012 0.979486345005967 0.970562626701976 NA -0.0158541166085171 NA FALSE NA 0.403 1.786 . intron_variant MODIFIER KLF12 HGNC 6346 ENST00000377666 3/7 1 NA GGG G,A 8.237e-06 13:73943956 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant 0.409251 0.29978 0.29006 0 0.68900485273427 0.0386214 0.982233162437981 TRUE 4.10597e-06 ENSE00001160718_002 ENSE00001160718 002 13 74518083 74518252 - 35 90 45 A G 74518096 182 157 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAACGCCCCACTCCTTT 73943945 73944115 73943958 73943959 73943959 downstr_intron 22 1.64705882352941 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAACGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 616 2685 0.939470082540564 0.999115437619585 0.969292760080074 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.0546613612671829 0.0521216280233785 0.979486345005967 0.970562626701976 NA -0.0012698666219022 NA FALSE NA 0 -1.12 . intron_variant MODIFIER KLF12 HGNC 6346 ENST00000377666 3/7 1 NA CAT A,G 2.471e-05 13:73943959 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant -0.109511 0.13156 0.03397 0 0.374672219959799 0.0386214 0.982233162437981 TRUE 4.51189e-05 ENSE00001160718_003 ENSE00001160718 003 13 74518083 74518252 - 35 90 45 C T 74518100 183 153 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAACAATGCCCCACTCCTTT 73943945 73944115 73943962 73943963 73943963 downstr_intron 18 1.52941176470588 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAACAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 1090 174 0.99690107688688 1 0.99845053844344 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00276963307913325 0.0530061904037935 0.979486345005967 0.970562626701976 NA 0.0278879117414634 NA FALSE NA 0 -0.001 . intron_variant MODIFIER KLF12 HGNC 6346 ENST00000377666 3/7 rs200943390 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCT C,T 1.647e-05 13:73943963 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant 0.604419 0.1967 0.05537 0 0.680332607899942 0.0386214 0.982233162437981 TRUE 8.19934e-06 ENSE00001160718_004 ENSE00001160718 004 13 74518083 74518252 - 35 90 45 A G 74518104 184 149 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTCCCAGCAATGCCCCACTCCTTT 73943945 73944115 73943966 73943967 73943967 downstr_intron 14 1.41176470588235 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTCCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 1139 2429 0.997697545681794 0.996960026869828 0.997328786275811 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00356610187404771 0.0499662172736218 0.979486345005967 0.970562626701976 NA 0.0267661595738348 NA FALSE NA 0.007 0.762 . intron_variant MODIFIER KLF12 HGNC 6346 ENST00000377666 3/7 1 NA GAA A,G 8.237e-06 13:73943967 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant 2.105516 0.25743 0.14146 0 0.86058480237037 0.115186 0.982233162437981 TRUE NA ENSE00001160718_005 ENSE00001160718 005 13 74518083 74518252 - 35 90 45 A G 74518106 185 147 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGCTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73943968 73943969 73943969 downstr_intron 12 1.35294117647059 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGCTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 496 316 0.998580899688718 0.996680576432884 0.997630738060801 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.0044494558809719 0.0496867668366772 0.979486345005967 0.970562626701976 NA 0.0270681113588245 NA FALSE NA 0.091 3.582 . intron_variant MODIFIER KLF12 HGNC 6346 ENST00000377666 3/7 1 NA AAC A,G 8.237e-06 13:73943969 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant 2.111422 0.27428 0.26548 0 0.87104124073648 0.115186 0.982233162437981 TRUE 1.22826e-05 ENSE00001160718_007 ENSE00001160718 007 13 74518083 74518252 - 35 90 45 G C 74518110 187 143 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCAGAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73943972 73943973 73943973 downstr_intron 8 1.23529411764706 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCAGAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 127 359 1 1 1 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.0530061904037935 0.979486345005967 0.970562626701976 NA 0.0294373732980235 NA FALSE NA 0.004 -0.149 . splice_region_variant&intron_variant LOW KLF12 HGNC 6346 ENST00000377666 3/7 1 NA TGT G,C 2.471e-05 13:73943973 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 splice_region_variant 1.097298 0.19511 0.01063 0 0.677556374303797 0.127771 0.982233162437981 TRUE 2.45132e-05 ENSE00001160718_010 ENSE00001160718 010 13 74518083 74518252 - 35 90 45 C G 74518133 190 120 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTCGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73943995 73943996 73943996 exon -16 0.833333333333333 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTCGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 6334 20 0.999250367893375 0.975508567392362 0.987379467642869 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00511892408562853 0.0285147577961558 0.979486345005967 0.970562626701976 NA 0.0168168409408921 NA FALSE NA 1 6.733 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 rs376042261 1 tolerated(0.06) possibly_damaging(0.708) NA G:0 G:0.0001 CCA C,G 8.236e-06 13:73943996 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 4.783527 0.96188 0.93642 0.706298 0.998620725060883 0 0.982233162437981 TRUE 1.22268e-05 ENSE00001160718_011 ENSE00001160718 011 13 74518083 74518252 - 35 90 45 A G 74518134 191 119 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTCGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73943996 73943997 73943997 exon -17 0.822222222222222 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTCGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 628 196 0.983411263772443 0.957025615583046 0.970218439677745 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.0107201800353035 0.0100318059868398 0.979486345005967 0.970562626701976 NA -0.000344187024231835 NA FALSE NA 1 8.043 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 tolerated(0.69) possibly_damaging(0.617) NA CAA A,G 3.295e-05 13:73943997 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 3.569956 0.93528 0.92748 0.706298 0.998012339352871 0 0.982233162437981 TRUE 3.26054e-05 ENSE00001160718_012 ENSE00001160718 012 13 74518083 74518252 - 35 90 45 G A 74518138 192 115 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGTTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944000 73944001 73944001 exon -21 0.777777777777778 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGTTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 415 263 1 1 1 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.0530061904037935 0.979486345005967 0.970562626701976 NA 0.0294373732980235 NA FALSE NA 1 5.52 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 tolerated(0.2) benign(0.23) NA AGC G,A 8.236e-06 13:73944001 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 2.740265 0.9449 0.8989 0.706298 0.995956515247078 0 0.982233162437981 TRUE 4.07455e-06 ENSE00001160718_013 ENSE00001160718 013 13 74518083 74518252 - 35 90 45 C T 74518139 193 114 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAACTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944001 73944002 73944002 exon -22 0.766666666666667 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAACTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 207 931 0.999801021950913 0.997956013752244 0.998878517851579 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00566957814316693 0.0509622041560379 0.979486345005967 0.970562626701976 NA 0.0283158911496024 NA FALSE NA 1 2.495 . synonymous_variant LOW KLF12 HGNC 6346 ENST00000377666 3/8 1 NA GCT C,T 4.942e-05 13:73944002 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 synonymous_variant 1.489414 0.91783 0.75756 0.706298 0.608481421403574 0 0.982233162437981 TRUE 0.000110013 ENSE00001160718_014 ENSE00001160718 014 13 74518083 74518252 - 35 90 45 G A 74518148 194 105 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTTAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944010 73944011 73944011 exon -31 0.666666666666667 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTTAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 30 210 1 1 1 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.0530061904037935 0.979486345005967 0.970562626701976 NA 0.0294373732980235 NA FALSE NA 1 4.539 . synonymous_variant LOW KLF12 HGNC 6346 ENST00000377666 3/8 rs370396114 1 NA A:0.0002 A:0 TGA G,A 8.236e-06 13:73944011 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 synonymous_variant 1.215339 0.93005 0.85443 0.706298 0.790976921540807 0 0.982233162437981 TRUE 8.14783e-06 ENSE00001160718_016 ENSE00001160718 016 13 74518083 74518252 - 35 90 45 G A 74518154 196 99 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTTAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944016 73944017 73944017 exon -37 0.6 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTTAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 1111 984 0.976927591732516 0.997791108071668 0.987359349902092 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.0172038520752306 0.0507972984754619 0.979486345005967 0.970562626701976 NA 0.0167967232001157 NA FALSE NA 1 3.624 . synonymous_variant LOW KLF12 HGNC 6346 ENST00000377666 3/8 rs371103244 1 NA A:0.0002 A:0 TGA G,A 1.647e-05 13:73944017 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 synonymous_variant 1.279028 0.94294 0.85815 0.706298 0.816163591396823 0 0.982233162437981 TRUE 1.62967e-05 ENSE00001160718_017 ENSE00001160718 017 13 74518083 74518252 - 35 90 45 C G 74518159 197 94 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGCCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944021 73944022 73944022 exon -42 0.544444444444444 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGCCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 888 32 0.997801252917915 1 0.998900626458957 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00366980911016812 0.0530061904037935 0.979486345005967 0.970562626701976 NA 0.0283379997569808 NA FALSE NA 1 3.17 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 rs561758371&COSM1255930 1 deleterious(0.01) benign(0.209) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GCC C,G 8.236e-06 13:73944022 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 3.863991 0.93428 0.85747 0.615465 0.996641379839607 0 0.982233162437981 TRUE 4.07568e-06 ENSE00001160718_018 ENSE00001160718 018 13 74518083 74518252 - 35 90 45 C T 74518160 198 93 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCAGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944022 73944023 73944023 exon -43 0.533333333333333 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCAGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 525 460 1 1 1 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.0530061904037935 0.979486345005967 0.970562626701976 NA 0.0294373732980235 NA FALSE NA 1 2.285 rs150352924 synonymous_variant LOW KLF12 HGNC 6346 ENST00000377666 3/8 rs150352924 1 NA T:0 T:0.0003 CCG C,T 0.0001565 13:73944023 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 synonymous_variant 2.403864 0.91502 0.73861 0.615465 0.709245265768175 0 0.982233162437981 TRUE 0.000130427 ENSE00001160718_019 ENSE00001160718 019 13 74518083 74518252 - 35 90 45 C A 74518163 199 90 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATTCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944025 73944026 73944026 exon 45 0.5 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATTCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 148 969 0.978616593613368 0.973623349240889 0.976119971427128 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.0155148501943785 0.0266295396446825 0.979486345005967 0.970562626701976 NA 0.00555734472515201 NA FALSE NA 1 6.733 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 deleterious(0.01) benign(0.138) NA GCA C,A 6.589e-05 13:73944026 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 3.5196 0.96158 0.93354 0.615465 0.99543150211555 0 0.982233162437981 TRUE 3.66853e-05 ENSE00001160718_020 ENSE00001160718 020 13 74518083 74518252 - 35 90 45 C G 74518168 200 85 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATCGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944030 73944031 73944031 exon 40 0.444444444444444 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATCGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 191 849 0.976254064337261 0.999955162120875 0.988104613229068 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.017877379470486 0.0529613525246684 0.979486345005967 0.970562626701976 NA 0.0175419865270912 NA FALSE NA 1 6.733 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 deleterious(0.01) probably_damaging(0.999) NA CCA C,G 8.236e-06 13:73944031 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 6.580665 0.96188 0.93642 0.615465 0.999338595535862 0 0.982233162437981 TRUE 4.07697e-06 ENSE00001160718_021 ENSE00001160718 021 13 74518083 74518252 - 35 90 45 C T 74518171 201 82 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTAATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944033 73944034 73944034 exon 37 0.411111111111111 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTAATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 23 669 1 0.994831651196372 0.997415825598186 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.047837841600165 0.979486345005967 0.970562626701976 NA 0.0268531988962092 NA FALSE NA 1 6.733 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 deleterious(0) possibly_damaging(0.767) NA TCA C,T 8.236e-06 13:73944034 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 5.121123 0.96047 0.92142 0.615465 0.998742361927191 0 0.982233162437981 TRUE 4.07737e-06 ENSE00001160718_022 ENSE00001160718 022 13 74518083 74518252 - 35 90 45 A G 74518176 202 77 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAACGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944038 73944039 73944039 exon 32 0.355555555555556 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAACGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 116 11 0.988064827668692 0.985343793273816 0.986704310471254 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.0060666161390549 0.0383499836776099 0.979486345005967 0.970562626701976 NA 0.0161416837692775 NA FALSE NA 1 8.043 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 deleterious_low_confidence(0) benign(0.057) NA CAT A,G 8.236e-06 13:73944039 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 2.499317 0.95361 0.94145 0.615465 0.984262881821752 0 0.982233162437981 TRUE 1.22333e-05 ENSE00001160718_025 ENSE00001160718 025 13 74518083 74518252 - 35 90 45 T C 74518186 205 67 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACGGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944048 73944049 73944049 exon 22 0.244444444444444 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACGGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 2003 653 0.922850982019626 1 0.961425491009813 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.0712804617881202 0.0530061904037935 0.979486345005967 0.970562626701976 NA -0.00913713569216335 NA FALSE NA 1 6.922 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 deleterious_low_confidence(0.04) benign(0.079) NA CTG T,C 8.236e-06 13:73944049 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 3.053387 0.9528 0.91711 0.615465 0.993850291305195 0 0.982233162437981 TRUE 4.085e-06 ENSE00001160718_026 ENSE00001160718 026 13 74518083 74518252 - 35 90 45 T C 74518188 206 65 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAGCAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944050 73944051 73944051 exon 20 0.222222222222222 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAGCAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant 12 68 0.996842245581267 0.878868073855647 0.937855159718457 NA NA NA NA NA 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 0.00638431657001048 -0.089646687145031 NA NA 0.979486345005967 0.970562626701976 -0.0416311852875103 NA NA NA FALSE 1 5.24 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 tolerated_low_confidence(0.24) benign(0.012) NA GTT T,C 1.647e-05 13:73944051 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 1.250367 0.9343 0.86063 0.615465 0.995205998056794 0 0.982233162437981 TRUE 8.17374e-06 ENSE00001160718_028 ENSE00001160718 028 13 74518083 74518252 - 35 90 45 G A 74518197 208 56 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACATCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944059 73944060 73944060 exon 11 0.122222222222222 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACATCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 829 1006 0.99609510158623 0.992377903365514 0.994236502475872 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00196365777848362 0.045384093769308 0.979486345005967 0.970562626701976 NA 0.0236738757738958 NA FALSE NA 1 3.967 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 tolerated_low_confidence(0.19) benign(0.023) NA GGT G,A 8.237e-06 13:73944060 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant 1.997501 0.9191 0.84565 0.615465 0.983059540285392 0 0.982233162437981 TRUE 4.09494e-06 ENSE00001160718_029 ENSE00001160718 029 13 74518083 74518252 - 35 90 45 T C 74518200 209 53 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAGCACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944062 73944063 73944063 exon 8 0.0888888888888889 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAGCACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 44 671 1 0.997400179358422 0.998700089679211 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.0504063697622159 0.979486345005967 0.970562626701976 NA 0.0281374629772347 NA FALSE NA 0.999 0.48 . missense_variant MODERATE KLF12 HGNC 6346 ENST00000377666 3/8 1 tolerated_low_confidence(0.74) benign(0) NA GTT T,C 1.647e-05 13:73944063 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 missense_variant -0.24071 0.89047 0.71479 0.615465 0.85876537235429 0 0.982233162437981 TRUE 8.19424e-06 ENSE00001160718_030 ENSE00001160718 030 13 74518083 74518252 - 35 90 45 A G 74518205 210 48 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAACATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944067 73944068 73944068 exon 3 0.0333333333333333 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAACATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 28 2335 0.980915747637479 0.998650105614058 0.989782926625768 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA -0.0132156961702679 0.0516562960178514 0.979486345005967 0.970562626701976 NA 0.0192202999237918 NA FALSE NA 1 1.136 . splice_region_variant&synonymous_variant LOW KLF12 HGNC 6346 ENST00000377666 3/8 COSM1255931 1 NA TAT A,G 8.237e-06 13:73944068 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 splice_region_variant 1.08172 0.89312 0.65074 0.615465 0.846059053148515 0 0.982233162437981 TRUE 4.10384e-06 ENSE00001160718_031 ENSE00001160718 031 13 74518083 74518252 - 35 90 45 G A 74518210 211 43 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTTAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944072 73944073 73944073 upstr_intron -3 -0.0444444444444444 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTTAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 579 629 0.996005923197034 0.999939473598016 0.997972698397525 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00187447938928698 0.0529456640018096 0.979486345005967 0.970562626701976 NA 0.0274100716955483 NA FALSE NA 1 2.739 rs9573330 splice_region_variant&intron_variant LOW KLF12 HGNC 6346 ENST00000377666 2/7 rs9573330&COSM3999122 1 A:0.3171 A:0.3487 A:0.2723 NA A:0.2411 A:0.3728 A:0.3272 A:0.3162 A:0.3707 TGA G,A 0.343 13:73944073 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 splice_region_variant 1.376079 0.92008 0.78918 0.078448 0.741903493758648 0.604061 0.982233162437981 TRUE 0.342183 ENSE00001160718_032 ENSE00001160718 032 13 74518083 74518252 - 35 90 45 T C 74518215 212 38 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTGTTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944077 73944078 73944078 upstr_intron -8 -0.155555555555556 TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTGTTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 751 176 1 0.99910034190481 0.999550170952405 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.0521065323086035 0.979486345005967 0.970562626701976 NA 0.0289875442504285 NA FALSE NA 0.685 0.059 . splice_region_variant&intron_variant LOW KLF12 HGNC 6346 ENST00000377666 2/7 1 NA ATA T,C 2.471e-05 13:73944078 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 splice_region_variant 0.304708 0.38139 0.41693 0.053691 0.601162446771644 0.217706 0.982233162437981 TRUE 1.2359e-05 ENSE00001160718_034 ENSE00001160718 034 13 74518083 74518252 - 35 90 45 A G 74518225 214 28 TGAATGCTTTAGAGCTGAATCTTTCTCCCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944087 73944088 73944088 upstr_intron -18 -0.377777777777778 TGAATGCTTTAGAGCTGAATCTTTCTCCCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant 55 23 0.959446466332673 0.991084296156257 0.975265381244465 798 2550 0.995371487168995 0.997287440771573 0.996329463970284 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 -0.0310114626785836 0.022569535155579 0.00124004336124828 0.0502936311753669 0.979486345005967 0.970562626701976 -0.00422096376150227 0.0257668372683076 0.0299878010298099 FALSE FALSE 0.532 1.052 . intron_variant MODIFIER KLF12 HGNC 6346 ENST00000377666 2/7 1 NA GAG A,G 8.238e-06 13:73944088 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant -0.336258 0.87457 0.33498 0.053691 0.544340804333541 0.204592 0.982233162437981 TRUE NA ENSE00001160718_035 ENSE00001160718 035 13 74518083 74518252 - 35 90 45 G C 74518226 215 27 TGAATGCTTTAGAGCTGAATCTTTCTGTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944088 73944089 73944089 upstr_intron -19 -0.4 TGAATGCTTTAGAGCTGAATCTTTCTGTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 256 167 0.997563415997785 1 0.998781707998893 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00343197219003877 0.0530061904037935 0.979486345005967 0.970562626701976 NA 0.0282190812969161 NA FALSE NA 0.53 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 13:73944089 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant -0.662157 0.8138 0.32905 0.053691 0.416924547988864 0.204592 0.982233162437981 TRUE 8.28356e-06 ENSE00001160718_036 ENSE00001160718 036 13 74518083 74518252 - 35 90 45 G A 74518226 216 27 TGAATGCTTTAGAGCTGAATCTTTCTTTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944088 73944089 73944089 upstr_intron -19 -0.4 TGAATGCTTTAGAGCTGAATCTTTCTTTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 316 418 1 0.970848926030561 0.985424463015281 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.0238551164343547 0.979486345005967 0.970562626701976 NA 0.0148618363133041 NA FALSE NA 0.53 0.677 NA NA NA KLF12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KLF12 NA NA NA ENSG00000118922 ENSE00003752135 intron_variant -0.307558 0.83818 0.40749 0.053691 0.349291484267145 0.204592 0.982233162437981 TRUE 8.28356e-06 ENSE00001160718_037 ENSE00001160718 037 13 74518083 74518252 - 35 90 45 G T 74518232 217 21 TGAATGCTTTAGAGCTGAATATTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944094 73944095 73944095 upstr_intron -25 -0.533333333333333 TGAATGCTTTAGAGCTGAATATTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 424 260 1 1 1 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00586855619225346 0.0530061904037935 0.979486345005967 0.970562626701976 NA 0.0294373732980235 NA FALSE NA 0.007 0.946 . intron_variant MODIFIER KLF12 HGNC 6346 ENST00000377666 2/7 1 NA AGA G,T 2.471e-05 13:73944095 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant -0.234746 0.27447 0.10277 0.053691 0.56771906001259 0.136664 0.982233162437981 TRUE NA ENSE00001160718_038 ENSE00001160718 038 13 74518083 74518252 - 35 90 45 T C 74518240 218 13 TGAATGCTTTAGGGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT 73943945 73944115 73944102 73944103 73944103 upstr_intron -33 -0.711111111111111 TGAATGCTTTAGGGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT TGAATGCTTTAGAGCTGAATCTTTCTCTCTCCCTTCTATTCTCAGAATATCAACACCTTTGAGAACAGAATGTTAATGCTTGATGGGATGCCGGCAGTCAGAGTCAAAACAGAGCTTTTGGAATCTGAACAAGGGGTAAGCACAAGTTTCCAGCAATGCCCCACTCCTTT mutant NA NA NA NA NA 656 942 0.998484583652251 0.969959297510432 0.984221940581341 0.990457929011256 0.968514761000678 0.994131443807747 0.946993809596206 NA NA 0.00435313984450425 0.022965487914225 0.979486345005967 0.970562626701976 NA 0.0136593138793646 NA FALSE NA 0.008 0.989 . intron_variant MODIFIER KLF12 HGNC 6346 ENST00000377666 2/7 1 NA CTC T,C 8.239e-06 13:73944103 KLF12 HGNC Symbol protein_coding 308967 ENSG00000118922 ENSE00003752135 intron_variant -0.130299 0.26943 0.17966 0.053691 0.587124122842784 0.637745 0.982233162437981 TRUE 4.20649e-06 ENSE00001161440_000 ENSE00001161440 000 9 75369661 75369830 + 41 99 30 NA NA NA NA NA TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 NA NA NA NA NA NA TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG natural 32 61 0.987449430988566 0.901646357381889 0.944547894185227 2186 1329 0.98936949434333 0.987057471900392 0.988213483121861 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 0 0 0 0 0.944547894185227 0.988213483121861 0 0 0 FALSE FALSE NA NA NA NA NA TMC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMC1 NA NA NA ENSG00000165091 ENSE00001161440 NA NA NA NA NA NA NA 3.80770445106551e-07 FALSE NA ENSE00001161440_001 ENSE00001161440 001 9 75369661 75369830 + 41 99 30 G A 75369679 582 19 TGTTTCTAATTGTTCACTACTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754762 72754763 72754763 upstr_intron -23 -0.536585365853659 TGTTTCTAATTGTTCACTACTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 705 792 1 0.994367113596175 0.997183556798087 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.0106305056566699 0.0073096416957833 0.944547894185227 0.988213483121861 NA 0.0089700736762266 NA FALSE NA 0.013 0.008 . intron_variant MODIFIER TMC1 HGNC 16513 ENST00000297784 11/23 1 NA TGC G,A 8.237e-06 9:72754763 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 intron_variant 0.7402 0.32164 0.0316 0.084033 0.49568242764095 0.164063 3.80770445106551e-07 FALSE 4.07043e-06 ENSE00001161440_002 ENSE00001161440 002 9 75369661 75369830 + 41 99 30 G A 75369688 583 28 TGTTTCTAATTGTTCACTGCTTTCTTTACTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754771 72754772 72754772 upstr_intron -14 -0.317073170731707 TGTTTCTAATTGTTCACTGCTTTCTTTACTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 404 904 0.999898090887949 0.999957890810195 0.999927990849072 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.0105285965446191 0.0129004189098039 0.944547894185227 0.988213483121861 NA 0.0117145077272115 NA FALSE NA 0 -1.13 . intron_variant MODIFIER TMC1 HGNC 16513 ENST00000297784 11/23 1 NA TGC G,A 8.237e-06 9:72754772 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 intron_variant 0.057759 0.23797 0.02971 0.084033 0.499855219675475 0.151247 3.80770445106551e-07 FALSE 4.0657e-06 ENSE00001161440_004 ENSE00001161440 004 9 75369661 75369830 + 41 99 30 T C 75369715 585 55 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTCGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754798 72754799 72754799 exon 14 0.141414141414141 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTCGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 364 1604 0.96275605414117 0.999595632752836 0.981175843447003 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA -0.0266134402021604 0.012538160852444 0.944547894185227 0.988213483121861 NA -0.00703763967485821 NA FALSE NA 0.999 0.642 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 1 tolerated(0.73) benign(0.313) NA TTG T,C 2.471e-05 9:72754799 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 1.059724 0.37247 0.25794 0.553676 0.832946405162024 0 3.80770445106551e-07 FALSE 1.21903e-05 ENSE00001161440_005 ENSE00001161440 005 9 75369661 75369830 + 41 99 30 C A 75369717 586 57 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGACATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754800 72754801 72754801 exon 16 0.161616161616162 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGACATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 20 283 1 0.996705850508535 0.998352925254267 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.0106305056566699 0.00964837860814294 0.944547894185227 0.988213483121861 NA 0.0101394421324064 NA FALSE NA 1 6.517 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 1 deleterious(0.04) probably_damaging(0.945) NA GCC C,A 8.236e-06 9:72754801 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 5.175575 0.99524 0.98062 0.553676 0.996760868485281 0 3.80770445106551e-07 FALSE 4.06362e-06 ENSE00001161440_007 ENSE00001161440 007 9 75369661 75369830 + 41 99 30 A G 75369721 588 61 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATGTGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754804 72754805 72754805 exon 20 0.202020202020202 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATGTGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 133 133 0.993315369189222 1 0.996657684594611 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.00394587484589204 0.0129425280996084 0.944547894185227 0.988213483121861 NA 0.00844420147275021 NA FALSE NA 1 7.767 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 rs533159785 1 deleterious(0) probably_damaging(0.984) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAT A,G 8.236e-06 9:72754805 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 5.855242 0.99401 0.98462 0.553676 0.99748590364271 0 3.80770445106551e-07 FALSE 4.06309e-06 ENSE00001161440_008 ENSE00001161440 008 9 75369661 75369830 + 41 99 30 C T 75369733 589 73 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACTTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754816 72754817 72754817 exon 32 0.323232323232323 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACTTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 52 379 1 0.998171820219214 0.999085910109607 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.0106305056566699 0.0111143483188227 0.944547894185227 0.988213483121861 NA 0.0108724269877463 NA FALSE NA 1 6.517 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 rs370088722 1 deleterious(0.04) probably_damaging(1) NA T:0 T:0.0001 CCT C,T 1.647e-05 9:72754817 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 5.836283 0.99522 0.97704 0.553676 0.998498950135058 0 3.80770445106551e-07 FALSE 4.46955e-05 ENSE00001161440_009 ENSE00001161440 009 9 75369661 75369830 + 41 99 30 G C 75369737 590 77 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGCAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754820 72754821 72754821 exon 36 0.363636363636364 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGCAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 447 2268 0.959964413543196 0.982266394022198 0.971115403782697 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA -0.029405080800134 -0.00479107787819344 0.944547894185227 0.988213483121861 NA -0.0170980793391637 NA FALSE NA 0.997 0.165 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 1 tolerated(0.4) probably_damaging(0.999) NA GGA G,C 8.236e-06 9:72754821 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 3.404835 0.96919 0.78886 0.553676 0.994607082612106 0 3.80770445106551e-07 FALSE 4.06299e-06 ENSE00001161440_010 ENSE00001161440 010 9 75369661 75369830 + 41 99 30 G A 75369744 591 84 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCATTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754827 72754828 72754828 exon 43 0.434343434343434 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCATTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 795 573 0.993071744176188 0.992488267743325 0.992780005959756 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.00370224983285816 0.00543079584293304 0.944547894185227 0.988213483121861 NA 0.0045665228378956 NA FALSE NA 1 8.203 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 rs201827013 1 tolerated(0.75) possibly_damaging(0.556) NA CGT G,A 8.236e-05 9:72754828 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 3.516291 0.99512 0.98439 0.553676 0.994249491787502 0 3.80770445106551e-07 FALSE 8.12579e-05 ENSE00001161440_012 ENSE00001161440 012 9 75369661 75369830 + 41 99 30 G A 75369756 593 96 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCAAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754839 72754840 72754840 exon -45 0.555555555555556 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCAAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 81 740 1 0.999948555489887 0.999974277744944 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.0106305056566699 0.0128910835894956 0.944547894185227 0.988213483121861 NA 0.0117607946230828 NA FALSE NA 1 8.203 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 rs373537563&COSM1701156 1 deleterious(0.02) probably_damaging(0.94) NA A:0 A:0.0001 CGA G,A 1.647e-05 9:72754840 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 6.683236 0.99517 0.98443 0.638212 0.999337601974742 0 3.80770445106551e-07 FALSE 8.12579e-06 ENSE00001161440_013 ENSE00001161440 013 9 75369661 75369830 + 41 99 30 G A 75369761 594 101 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAAGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754844 72754845 72754845 exon -40 0.606060606060606 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAAGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 281 196 0.982227877666685 0.996409681464304 0.989318779565495 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA -0.00714161667664537 0.00935220956391269 0.944547894185227 0.988213483121861 NA 0.00110529644363366 NA FALSE NA 1 0.701 . synonymous_variant LOW TMC1 HGNC 16513 ENST00000297784 12/24 1 NA AGG G,A 1.647e-05 9:72754845 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 synonymous_variant 0.669157 0.95839 0.68076 0.638212 0.436185575133787 0 3.80770445106551e-07 FALSE 8.12612e-06 ENSE00001161440_014 ENSE00001161440 014 9 75369661 75369830 + 41 99 30 G T 75369762 595 102 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGTCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754845 72754846 72754846 exon -39 0.616161616161616 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGTCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 64 126 0.98279978317678 1 0.99139989158839 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA -0.00656971116654981 0.0129425280996084 0.944547894185227 0.988213483121861 NA 0.00318640846652929 NA FALSE NA 1 2.17 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 rs200831684 1 tolerated(0.37) benign(0.101) NA T:0.0002 T:0.0006 GGC G,T 0.0004201 9:72754846 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 1.294068 0.97609 0.88572 0.638212 0.927486733452742 0 3.80770445106551e-07 FALSE 0.000353483 ENSE00001161440_016 ENSE00001161440 016 9 75369661 75369830 + 41 99 30 G A 75369767 597 107 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCAGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754850 72754851 72754851 exon -34 0.666666666666667 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCAGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 207 230 0.989615802419611 0.990740068231358 0.990177935325485 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.000246308076281232 0.00368259633096624 0.944547894185227 0.988213483121861 NA 0.00196445220362373 NA FALSE NA 0.001 -0.808 . synonymous_variant LOW TMC1 HGNC 16513 ENST00000297784 12/24 COSM3658012 1 NA CGG G,A 1.647e-05 9:72754851 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 synonymous_variant 1.426621 0.89048 0.05633 0.553676 0.713223972958038 0 3.80770445106551e-07 FALSE 2.43789e-05 ENSE00001161440_017 ENSE00001161440 017 9 75369661 75369830 + 41 99 30 A G 75369775 598 115 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAGCTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754858 72754859 72754859 exon -26 0.747474747474748 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAGCTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 1691 304 0.890261493511426 1 0.945130746755713 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA -0.0991080008319041 0.0129425280996084 0.944547894185227 0.988213483121861 NA -0.0430827363661478 NA FALSE NA 1 7.767 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 1 deleterious(0.04) benign(0.041) NA AAC A,G 6.589e-05 9:72754859 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 3.337323 0.99438 0.98573 0.553676 0.998672712441553 0 3.80770445106551e-07 FALSE 6.09434e-05 ENSE00001161440_018 ENSE00001161440 018 9 75369661 75369830 + 41 99 30 G A 75369781 599 121 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGATGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754864 72754865 72754865 exon -20 0.808080808080808 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGATGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 619 749 0.914704312947748 0.819446957186928 0.867075635067338 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA -0.0746651813955819 -0.167610514713464 0.944547894185227 0.988213483121861 NA -0.121137848054523 NA FALSE NA 1 5.619 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 1 tolerated(0.93) possibly_damaging(0.722) NA GGT G,A 8.236e-06 9:72754865 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 4.061308 0.99155 0.92234 0.553676 0.990068395810792 0 3.80770445106551e-07 FALSE 4.06319e-06 ENSE00001161440_019 ENSE00001161440 019 9 75369661 75369830 + 41 99 30 C T 75369794 600 134 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGATTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754877 72754878 72754878 exon -7 0.939393939393939 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGATTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 66 409 1 0.998686588467071 0.999343294233536 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.0106305056566699 0.0116291165666798 0.944547894185227 0.988213483121861 NA 0.0111298111116748 NA FALSE NA 1 0.711 rs143404572 synonymous_variant LOW TMC1 HGNC 16513 ENST00000297784 12/24 rs143404572 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0011 T:0 ACT C,T 6.589e-05 9:72754878 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 synonymous_variant 1.140218 0.96801 0.70248 0.553676 0.646302234839381 0 3.80770445106551e-07 FALSE 7.31553e-05 ENSE00001161440_020 ENSE00001161440 020 9 75369661 75369830 + 41 99 30 C G 75369797 601 137 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTGAATGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754880 72754881 72754881 exon -4 0.96969696969697 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTGAATGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 94 698 0.988031451791402 1 0.994015725895701 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA -0.00133804255192815 0.0129425280996084 0.944547894185227 0.988213483121861 NA 0.00580224277384012 NA FALSE NA 1 1.37 . missense_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 1 tolerated(0.54) probably_damaging(0.998) NA TCA C,G 8.236e-06 9:72754881 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 4.726355 0.98454 0.88594 0.553676 0.99809433328347 0 3.80770445106551e-07 FALSE 4.06431e-06 ENSE00001161440_021 ENSE00001161440 021 9 75369661 75369830 + 41 99 30 A G 75369799 602 139 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAGTGTAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 72754882 72754883 72754883 exon -2 0.98989898989899 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAGTGTAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 70 285 0.862238780950743 0.996171249413884 0.929205015182313 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA -0.127130713392587 0.00911377751349207 0.944547894185227 0.988213483121861 NA -0.0590084679395473 NA FALSE NA 1 1.616 . missense_variant&splice_region_variant MODERATE TMC1 HGNC 16513 ENST00000297784 12/24 rs549050367 1 tolerated(0.17) benign(0.003) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAT A,G 4.118e-05 9:72754883 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 missense_variant 0.929032 0.96599 0.4436 0.553676 0.905940902854941 0 3.80770445106551e-07 FALSE 5.28361e-05 ENSE00001161440_022 ENSE00001161440 022 9 75369661 75369830 + 41 99 30 T A 75369808 603 148 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGACTCCACACAAGTGTATTGGTGG 72754744 72754914 72754891 72754892 72754892 downstr_intron 8 1.27586206896552 TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGACTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG mutant NA NA NA NA NA 270 567 0.99485898181809 1 0.997429490909045 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 NA NA 0.00548948747475952 0.0129425280996084 0.944547894185227 0.988213483121861 NA 0.00921600778718396 NA FALSE NA 0.924 1.485 . splice_region_variant&intron_variant LOW TMC1 HGNC 16513 ENST00000297784 12/23 1 NA GTC T,A 1.647e-05 9:72754892 TMC1 HGNC Symbol protein_coding 316622 ENSG00000165091 ENSE00001161440 splice_region_variant 0.242534 0.83745 0.25102 0.084033 0.458100762513227 0.31363 3.80770445106551e-07 FALSE 8.13015e-06 ENSE00001161440_BRK ENSE00001161440 BRK 9 75369661 75369830 + 41 99 30 A,G; T,T NA NA NA TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACTTTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATCCAAGTGTCTCCACACAAGTGTATTGGTGG 72754744 72754914 NA NA NA NA NA NA TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACTTTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATCCAAGTGTCTCCACACAAGTGTATTGGTGG TGTTTCTAATTGTTCACTGCTTTCTTTGCTTCTTCATACAGTACCTCTGGGGTTTGCCATATGGCAGTTTACCTAGGAAAACCGTTCCCAGAGCCGAAGAGGCATCGGCAGCAAACTTTGGTGTGTTGTACGACTTCAATGTAAGTGTCTCCACACAAGTGTATTGGTGG control 176 74 0 0 0 NA NA NA NA NA 0.987449430988566 0.901646357381889 0.98936949434333 0.987057471900392 -0.987449430988566 -0.901646357381889 NA NA 0.944547894185227 0.988213483121861 -0.944547894185227 NA NA NA TRUE NA NA NA NA NA TMC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMC1 NA NA NA ENSG00000165091 ENSE00001161440 NA NA NA NA NA NA NA 3.80770445106551e-07 FALSE NA ENSE00001162817_000 ENSE00001162817 000 2 16742683 16742852 - 41 78 51 NA NA NA NA NA ATGGAGAAGGGTGCAAAGGTCAAGGCGACCCAGGGACTCACGTGCATGTTGTTGATGCGGTTGCGACTGATTGTTCTTCTGTAGTAGCTGAAGTCATTCTGAATAGCCGGGTTCCTCATCTGAAATTCAGAGGACAAGAGCGAAGGTCATCTCTCAGTATCAGATGGGGT 16561414 16561584 NA NA NA NA NA NA ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT natural 11 26 1 0.96870034632373 0.984350173161865 941 891 0.994249988567389 0.991970919122072 0.99311045384473 1 0.96870034632373 0.994249988567389 0.991970919122072 0 0 0 0 0.984350173161865 0.99311045384473 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM49A NA NA NA ENSG00000197872 ENSE00001162817 NA NA NA NA NA NA NA 0.805360676032756 FALSE NA ENSE00001162817_005 ENSE00001162817 005 2 16742683 16742852 - 41 78 51 C G 16742708 197 145 ATGGAGAAGGGTGCAAAGGTCAAGGGGACCCAGGGACTCACGTGCATGTTGTTGATGCGGTTGCGACTGATTGTTCTTCTGTAGTAGCTGAAGTCATTCTGAATAGCCGGGTTCCTCATCTGAAATTCAGAGGACAAGAGCGAAGGTCATCTCTCAGTATCAGATGGGGT 16561414 16561584 16561439 16561440 16561440 downstr_intron 16 1.4 ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCCCCTTGACCTTTGCACCCTTCTCCAT ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT mutant NA NA NA NA NA 70 115 1 1 1 1 0.96870034632373 0.994249988567389 0.991970919122072 NA NA 0.00575001143261111 0.00802908087792809 0.984350173161865 0.99311045384473 NA 0.0068895461552696 NA FALSE NA 0 -0.788 NA NA NA FAM49A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:16561440 FAM49A HGNC Symbol protein_coding 116872 ENSG00000197872 ENSE00001162817 intron_variant 0.290205 0.35919 0.10298 0.062308 0.607606684613895 0.073779 0.805360676032756 FALSE 4.06921e-06 ENSE00001162817_014 ENSE00001162817 014 2 16742683 16742852 - 41 78 51 T A 16742743 206 110 ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCATCCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT 16561414 16561584 16561474 16561475 16561475 exon -20 0.756410256410256 ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCATCCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT mutant NA NA NA NA NA 328 719 1 0.978417077729067 0.989208538864533 1 0.96870034632373 0.994249988567389 0.991970919122072 NA NA 0.00575001143261111 -0.0135538413930053 0.984350173161865 0.99311045384473 NA -0.0039019149801971 NA FALSE NA 1 4.931 rs138219641 downstream_gene_variant MODIFIER FAM49A HGNC 25373 ENST00000451689 rs138219641 1 NA A:0 A:0.0001 GTT T,A 8.237e-06 2:16561475 FAM49A HGNC Symbol protein_coding 116872 ENSG00000197872 ENSE00001162817 missense_variant 3.745248 0.98778 0.95492 0.706548 0.958772410786248 0 0.805360676032756 FALSE 4.06527e-06 ENSE00001162817_015 ENSE00001162817 015 2 16742683 16742852 - 41 78 51 G A 16742747 207 106 ATGGAGAAGGGTGCAAAGGTCAAGGCGACCCAGGGACTCACGTGCATGTTGTTGATGCGGTTGCAACTGATTGTTCTTCTGTAGTAGCTGAAGTCATTCTGAATAGCCGGGTTCCTCATCTGAAATTCAGAGGACAAGAGCGAAGGTCATCTCTCAGTATCAGATGGGGT 16561414 16561584 16561478 16561479 16561479 exon -24 0.705128205128205 ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTTGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT mutant NA NA NA NA NA 86 57 1 1 1 1 0.96870034632373 0.994249988567389 0.991970919122072 NA NA 0.00575001143261111 0.00802908087792809 0.984350173161865 0.99311045384473 NA 0.0068895461552696 NA FALSE NA 1 6.595 . downstream_gene_variant MODIFIER FAM49A HGNC 25373 ENST00000451689 COSM1206369 1 NA CGA G,A 8.237e-06 2:16561479 FAM49A HGNC Symbol protein_coding 116872 ENSG00000197872 ENSE00001162817 missense_variant 7.949927 0.99032 0.96855 0.706548 0.999458559762203 0 0.805360676032756 FALSE 4.06521e-06 ENSE00001162817_019 ENSE00001162817 019 2 16742683 16742852 - 41 78 51 G A 16742820 211 33 ATGGAGAAGGGTGCAAAGGTCAAGGCGACCCAGGGACTCACGTGCATGTTGTTGATGCGGTTGCGACTGATTGTTCTTCTGTAGTAGCTGAAGTCATTCTGAATAGCCGGGTTCCTCATCTGAAATTCAGAGGACAAAAGCGAAGGTCATCTCTCAGTATCAGATGGGGT 16561414 16561584 16561551 16561552 16561552 upstr_intron -19 -0.352941176470588 ACCCCATCTGATACTGAGAGATGACCTTCGCTTTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT ACCCCATCTGATACTGAGAGATGACCTTCGCTCTTGTCCTCTGAATTTCAGATGAGGAACCCGGCTATTCAGAATGACTTCAGCTACTACAGAAGAACAATCAGTCGCAACCGCATCAACAACATGCACGTGAGTCCCTGGGTCGCCTTGACCTTTGCACCCTTCTCCAT mutant NA NA NA NA NA 16 33 0.8 1 0.9 1 0.96870034632373 0.994249988567389 0.991970919122072 NA NA -0.194249988567389 0.00802908087792809 0.984350173161865 0.99311045384473 NA -0.0931104538447304 NA FALSE NA 0.001 0.569 . downstream_gene_variant MODIFIER FAM49A HGNC 25373 ENST00000451689 rs560923340 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGA G,A 2.471e-05 2:16561552 FAM49A HGNC Symbol protein_coding 116872 ENSG00000197872 ENSE00001162817 intron_variant 0.061148 0.41853 0.17804 0.062308 0.534631354989193 0.0617935 0.805360676032756 FALSE 2.03688e-05 ENSE00001162960_000 ENSE00001162960 000 5 80638453 80638622 - 38 84 48 NA NA NA NA NA TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 NA NA NA NA NA NA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA natural 66 162 0.824676418823974 0.855829940636337 0.840253179730156 2010 2383 0.896334633661183 0.925529921868285 0.910932277764734 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 0 0 0 0 0.840253179730156 0.910932277764734 0 0 0 FALSE FALSE NA NA NA NA NA ACOT12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACOT12 NA NA NA ENSG00000172497 ENSE00001162960 NA NA NA NA NA NA NA 1.28596440526683e-11 FALSE NA ENSE00001162960_001 ENSE00001162960 001 5 80638453 80638622 - 38 84 48 A C 80638480 773 143 TGGGCGATGGATTATGCAAATACCTGGCAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342660 81342661 81342661 downstr_intron 11 1.2972972972973 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTGCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 1042 591 0.863721671341061 0.898708648173447 0.881215159757254 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA -0.032612962320122 -0.0268212736948379 0.840253179730156 0.910932277764734 NA -0.0297171180074799 NA FALSE NA 0 0.285 . intron_variant MODIFIER ACOT12 HGNC 24436 ENST00000307624 11/14 1 NA GAA A,C 1.647e-05 5:81342661 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 intron_variant -0.241767 0.20338 0.05353 0.053691 0.527485410036316 0.0823016 1.28596440526683e-11 FALSE 8.12315e-06 ENSE00001162960_002 ENSE00001162960 002 5 80638453 80638622 - 38 84 48 T C 80638493 774 130 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTCTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342673 81342674 81342674 exon -3 0.976190476190476 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAGAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 574 499 0.796291598584343 0.8 0.798145799292172 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA -0.10004303507684 -0.125529921868285 0.840253179730156 0.910932277764734 NA -0.112786478472562 NA FALSE NA 0.969 3.886 . missense_variant&splice_region_variant MODERATE ACOT12 HGNC 24436 ENST00000307624 11/15 rs201243215 1 tolerated(0.07) benign(0.338) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTT T,C 8.236e-06 5:81342674 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 missense_variant 1.607741 0.97659 0.95156 0.554377 0.995807001197413 0 1.28596440526683e-11 FALSE 4.06101e-06 ENSE00001162960_004 ENSE00001162960 004 5 80638453 80638622 - 38 84 48 C A 80638499 776 124 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCAAAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342679 81342680 81342680 exon -9 0.904761904761905 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTTTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 159 143 0.970548493866911 0.976833035413859 0.973690764640385 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.0742138602057276 0.0513031135455745 0.840253179730156 0.910932277764734 NA 0.0627584868756511 NA FALSE NA 0 0.484 . missense_variant MODERATE ACOT12 HGNC 24436 ENST00000307624 11/15 1 tolerated(0.38) benign(0.002) NA ACA C,A 8.236e-06 5:81342680 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 missense_variant 0.700713 0.24679 0.03802 0.554377 0.720114817788464 0 1.28596440526683e-11 FALSE NA ENSE00001162960_005 ENSE00001162960 005 5 80638453 80638622 - 38 84 48 T C 80638502 777 121 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGCGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342682 81342683 81342683 exon -12 0.869047619047619 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCGCTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 67 510 0.99433736546246 0.999689771585795 0.997013568524128 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.0980027318012774 0.0741598497175102 0.840253179730156 0.910932277764734 NA 0.0860812907593938 NA FALSE NA 0 -0.164 rs150497513 missense_variant MODERATE ACOT12 HGNC 24436 ENST00000307624 11/15 rs150497513 1 tolerated(0.68) benign(0.003) NA C:0.0002 C:0 GTG T,C 8.236e-06 5:81342683 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 missense_variant -1.492398 0.22673 0.00753 0.554377 0.252649863315617 0 1.28596440526683e-11 FALSE 4.06075e-06 ENSE00001162960_006 ENSE00001162960 006 5 80638453 80638622 - 38 84 48 T C 80638505 778 118 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCCGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342685 81342686 81342686 exon -15 0.833333333333333 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCGGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 1784 37 0.993056665146789 1 0.996528332573394 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.0967220314856061 0.0744700781317151 0.840253179730156 0.910932277764734 NA 0.0855960548086606 NA FALSE NA 0.991 2.564 . missense_variant MODERATE ACOT12 HGNC 24436 ENST00000307624 11/15 1 deleterious(0.02) possibly_damaging(0.612) NA CTG T,C 8.236e-06 5:81342686 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 missense_variant 3.801188 0.90769 0.83713 0.554377 0.995807491220441 0 1.28596440526683e-11 FALSE 4.06072e-06 ENSE00001162960_008 ENSE00001162960 008 5 80638453 80638622 - 38 84 48 G A 80638507 780 116 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGATAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342687 81342688 81342688 exon -17 0.80952380952381 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTATCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 100 12 0.801610156373831 0.820622092620642 0.811116124497237 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA -0.0947244772873514 -0.104907829247643 0.840253179730156 0.910932277764734 NA -0.0998161532674973 NA FALSE NA 1 1.649 NA NA NA ACOT12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:81342688 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 missense_variant 1.172896 0.77921 0.74419 0.554377 0.90672315843236 0 1.28596440526683e-11 FALSE 8.12137e-06 ENSE00001162960_012 ENSE00001162960 012 5 80638453 80638622 - 38 84 48 C A 80638529 784 94 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGATGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342709 81342710 81342710 exon -39 0.547619047619048 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCATCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 179 1397 0.942168967407045 0.943260737315629 0.942714852361337 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.045834333745862 0.0177308154473446 0.840253179730156 0.910932277764734 NA 0.0317825745966033 NA FALSE NA 0.119 0.742 . missense_variant MODERATE ACOT12 HGNC 24436 ENST00000307624 11/15 rs560641833&COSM197037 1 tolerated(0.2) benign(0.153) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GCT C,A 8.236e-06 5:81342710 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 missense_variant 1.221071 0.96027 0.42505 0.487112 0.949275785207157 0 1.28596440526683e-11 FALSE 4.06058e-06 ENSE00001162960_013 ENSE00001162960 013 5 80638453 80638622 - 38 84 48 C T 80638533 785 90 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCTAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342713 81342714 81342714 exon 42 0.5 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTAGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 26 88 0.809923249894976 0.858338101875303 0.834130675885139 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA -0.0864113837662072 -0.067191819992982 0.840253179730156 0.910932277764734 NA -0.0768016018795946 NA FALSE NA 1 2.256 . synonymous_variant LOW ACOT12 HGNC 24436 ENST00000307624 11/15 1 NA CCA C,T 8.236e-06 5:81342714 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 synonymous_variant 0.927946 0.98995 0.91236 0.487112 0.603722974816906 0 1.28596440526683e-11 FALSE 4.06058e-06 ENSE00001162960_014 ENSE00001162960 014 5 80638453 80638622 - 38 84 48 T G 80638540 786 83 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTGTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342720 81342721 81342721 exon 35 0.416666666666667 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCACAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 241 223 0.422851389027839 0.475575011833032 0.449213200430436 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA -0.473483244633344 -0.449954910035253 0.840253179730156 0.910932277764734 NA -0.461719077334298 NA FALSE NA 0.461 0.613 . missense_variant MODERATE ACOT12 HGNC 24436 ENST00000307624 11/15 1 tolerated(0.52) benign(0.007) NA TTT T,G 1.647e-05 5:81342721 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 missense_variant -0.733173 0.23968 0.12634 0.487112 0.640921133623707 0 1.28596440526683e-11 FALSE 8.12123e-06 ENSE00001162960_015 ENSE00001162960 015 5 80638453 80638622 - 38 84 48 C T 80638551 787 72 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCTACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342731 81342732 81342732 exon 24 0.285714285714286 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTAGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 604 133 0.422073811906296 0.371895558433536 0.396984685169916 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA -0.474260821754887 -0.553634363434749 0.840253179730156 0.910932277764734 NA -0.513947592594818 NA TRUE NA 0.996 0.563 rs143313482 synonymous_variant LOW ACOT12 HGNC 24436 ENST00000307624 11/15 rs143313482 1 NA T:0.0002 T:0 CCA C,T 4.942e-05 5:81342732 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 synonymous_variant 0.912901 0.97727 0.72309 0.554377 0.564022954266987 0 1.28596440526683e-11 FALSE 3.65456e-05 ENSE00001162960_017 ENSE00001162960 017 5 80638453 80638622 - 38 84 48 G A 80638570 789 53 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGAATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342750 81342751 81342751 exon 5 0.0595238095238095 TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATTCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 131 1045 0.98243037855106 0.994758765231415 0.988594571891237 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.0860957448898766 0.0692288433631298 0.840253179730156 0.910932277764734 NA 0.0776622941265032 NA FALSE NA 0.548 3.652 . missense_variant MODERATE ACOT12 HGNC 24436 ENST00000307624 11/15 1 tolerated(0.12) benign(0.209) NA GGA G,A 8.236e-06 5:81342751 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 missense_variant 1.008083 0.5521 0.4961 0.554377 0.834540717624851 0 1.28596440526683e-11 FALSE 4.06078e-06 ENSE00001162960_018 ENSE00001162960 018 5 80638453 80638622 - 38 84 48 T G 80638590 790 33 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATGATATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342770 81342771 81342771 upstr_intron -16 -0.3125 TCCATGTATTGAACACATAGCTTTAAAAATATCATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 100 769 0.95 0.970261969116078 0.960130984558039 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.053665366338817 0.044732047247793 0.840253179730156 0.910932277764734 NA 0.049198706793305 NA FALSE NA 0.002 0.428 . intron_variant MODIFIER ACOT12 HGNC 24436 ENST00000307624 10/14 1 NA TTA ,G 1.647e-05 5:81342771 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 intron_variant -0.059831 0.23831 0.01647 0.053691 0.581219478971787 0.0798693 1.28596440526683e-11 FALSE 8.12559e-06 ENSE00001162960_019 ENSE00001162960 019 5 80638453 80638622 - 38 84 48 A G 80638591 791 32 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTGTATTTTTAAAGCTATGTGTTCAATACATGGA 81342633 81342803 81342771 81342772 81342772 upstr_intron -17 -0.333333333333333 TCCATGTATTGAACACATAGCTTTAAAAATACAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 1700 51 0.925287699749116 0.95 0.937643849874558 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.0289530660879327 0.0244700781317151 0.840253179730156 0.910932277764734 NA 0.0267115721098239 NA FALSE NA 0.007 0.843 . intron_variant MODIFIER ACOT12 HGNC 24436 ENST00000307624 10/14 rs532717665 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAT ,G 8.236e-06 5:81342772 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 intron_variant -0.439684 0.1885 0.01325 0.053691 0.404190260134821 0.0443366 1.28596440526683e-11 FALSE 4.06316e-06 ENSE00001162960_021 ENSE00001162960 021 5 80638453 80638622 - 38 84 48 G A 80638609 793 14 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTATTCAATACATGGA 81342633 81342803 81342789 81342790 81342790 upstr_intron -35 -0.708333333333333 TCCATGTATTGAATACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 269 291 0.997369827011696 0.958267620463045 0.977818723737371 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.101035193350513 0.0327376985947605 0.840253179730156 0.910932277764734 NA 0.0668864459726366 NA FALSE NA 0.012 1.444 . intron_variant MODIFIER ACOT12 HGNC 24436 ENST00000307624 10/14 rs375596224 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0018 A:0 TGT G,A 0.0001235 5:81342790 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 intron_variant -0.150189 0.2072 0.12812 0.055872 0.161315834217762 0.0443366 1.28596440526683e-11 FALSE 0.000113949 ENSE00001162960_022 ENSE00001162960 022 5 80638453 80638622 - 38 84 48 T G 80638611 794 12 TGGGCGATGGATTATGCAAATACCTGGAAGTGTCCTACCTTTTCCACAGTGCTGGTAACCTCCCAACCCCTTTTGGCTGCCAGTTTTTTGAGGGCCTCCACATTGCTGTCACTCAGGGATGCCTAGAATAGAAATATTATATTTTTAAAGCTATGTGTGCAATACATGGA 81342633 81342803 81342791 81342792 81342792 upstr_intron -37 -0.75 TCCATGTATTGCACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA TCCATGTATTGAACACATAGCTTTAAAAATATAATATTTCTATTCTAGGCATCCCTGAGTGACAGCAATGTGGAGGCCCTCAAAAAACTGGCAGCCAAAAGGGGTTGGGAGGTTACCAGCACTGTGGAAAAGGTAGGACACTTCCAGGTATTTGCATAATCCATCGCCCA mutant NA NA NA NA NA 59 38 0.965160913469749 1 0.982580456734874 0.824676418823974 0.855829940636337 0.896334633661183 0.925529921868285 NA NA 0.0688262798085658 0.0744700781317151 0.840253179730156 0.910932277764734 NA 0.0716481789701405 NA FALSE NA 0.002 0.219 . intron_variant MODIFIER ACOT12 HGNC 24436 ENST00000307624 10/14 1 NA TTC T,G 8.237e-06 5:81342792 ACOT12 HGNC Symbol protein_coding 64174 ENSG00000172497 ENSE00001162960 intron_variant 0.117331 0.20371 0.10307 0.055872 0.523617505790992 0.0443366 1.28596440526683e-11 FALSE 8.14094e-06 ENSE00001163932_000 ENSE00001163932 000 4 2747138 2747307 - 35 90 45 NA NA NA NA NA GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC 2745410 2745580 NA NA NA NA NA NA GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC natural 19 22 0.952788543475432 0.984578383136124 0.968683463305778 1951 2230 0.922385928098061 0.967461214491918 0.944923571294989 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 0 0 0 0 0.968683463305778 0.944923571294989 0 0 0 FALSE FALSE NA NA NA NA NA TNIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP2 NA NA NA ENSG00000168884 ENSE00003634160 NA NA NA NA NA NA NA 2.97330525116274e-06 FALSE NA ENSE00001163932_001 ENSE00001163932 001 4 2747138 2747307 - 35 90 45 C G 2747148 105 160 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTCAGAAGAACAC 2745410 2745580 2745420 2745421 2745421 downstr_intron 25 1.73529411764706 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTCAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 25 165 1 0.995980079492701 0.99799003974635 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.077614071901939 0.0285188650007826 0.968683463305778 0.944923571294989 NA 0.0530664684513608 NA FALSE NA 0 -1.209 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA TCA C,G 8.237e-06 4:2745421 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 non_coding_transcript_exon_variant 0.112426 0.15499 0.04023 0.163922 0.591629902784365 0.0979872 2.97330525116274e-06 FALSE 8.4251e-06 ENSE00001163932_002 ENSE00001163932 002 4 2747138 2747307 - 35 90 45 C T 2747152 106 156 GTGTTCTTCTCAAATGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745424 2745425 2745425 downstr_intron 21 1.61764705882353 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCATTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 215 400 0.976152995181769 0.989016322400789 0.982584658791279 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0537670670837076 0.0215551079088707 0.968683463305778 0.944923571294989 NA 0.0376610874962892 NA FALSE NA 0 -1.335 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA ACG C,T 8.237e-06 4:2745425 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 non_coding_transcript_exon_variant -0.396281 0.11192 0.03981 0.163922 0.740197223048136 0.0989122 2.97330525116274e-06 FALSE NA ENSE00001163932_003 ENSE00001163932 003 4 2747138 2747307 - 35 90 45 G A 2747153 107 155 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTTGTTTGAGAAGAACAC 2745410 2745580 2745425 2745426 2745426 downstr_intron 20 1.58823529411765 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTTGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 544 333 0.996725039101801 0.976741005379677 0.986733022240739 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0743391110037404 0.00927979088775932 0.968683463305778 0.944923571294989 NA 0.0418094509457498 NA FALSE NA 0 -0.112 rs79257123 downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 rs79257123 1 A:0.0230 A:0.0613 A:0.0101 NA A:0.0129 A:0.005 A:0.0092 A:0.0454 A:0.0029 CGA G,A 0.009283 4:2745426 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 non_coding_transcript_exon_variant -0.109301 0.16865 0.03589 0.163922 0.434482998357865 0.0989122 2.97330525116274e-06 FALSE NA ENSE00001163932_004 ENSE00001163932 004 4 2747138 2747307 - 35 90 45 C T 2747166 108 142 GTGTTCTTCTCAAACGAAATGTGAAAGATACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745438 2745439 2745439 downstr_intron 7 1.20588235294118 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTATCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 534 2579 0.996717548155198 0.997738518569114 0.997228033362156 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0743316200571368 0.0302773040771956 0.968683463305778 0.944923571294989 NA 0.0523044620671662 NA FALSE NA 0.624 -0.332 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA ACA C,T 3.295e-05 4:2745439 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 splice_region_variant 0.229975 0.16691 0.09478 0.163922 0.40172262428724 0.224783 2.97330525116274e-06 FALSE 2.86958e-05 ENSE00001163932_005 ENSE00001163932 005 4 2747138 2747307 - 35 90 45 C T 2747170 109 138 GTGTTCTTCTCAAACGAAATGTGAAAGACACTTACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745442 2745443 2745443 downstr_intron 3 1.08823529411765 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTAAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 1604 1272 0.999588767966886 1 0.999794383983443 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0772028398688253 0.0325387855080821 0.968683463305778 0.944923571294989 NA 0.0548708126884537 NA FALSE NA 1 1.128 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA TCA C,T 8.236e-06 4:2745443 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 splice_region_variant 1.170857 0.90902 0.78899 0.163922 0.63196979921193 0.818816 2.97330525116274e-06 FALSE 8.17682e-06 ENSE00001163932_007 ENSE00001163932 007 4 2747138 2747307 - 35 90 45 G C 2747173 111 135 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCAGGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC 2745410 2745580 2745445 2745446 2745446 exon -1 1 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCAGGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 525 503 0.997384131569851 0.984553994955315 0.990969063262583 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0749982034717902 0.017092780463397 0.968683463305778 0.944923571294989 NA 0.0460454919675936 NA FALSE NA 0.123 -0.923 NA NA NA TNIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:2745446 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 missense_variant 3.288912 0.83241 0.34366 0.732398 0.785578803376758 0 2.97330525116274e-06 FALSE 0.000110189 ENSE00001163932_009 ENSE00001163932 009 4 2747138 2747307 - 35 90 45 A G 2747180 113 128 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCGCCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745452 2745453 2745453 exon -8 0.922222222222222 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGCGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 610 43 0.998983612676939 1 0.99949180633847 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0765976845788785 0.0325387855080821 0.968683463305778 0.944923571294989 NA 0.0545682350434803 NA FALSE NA 0.985 6.545 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA CAC A,G 8.236e-06 4:2745453 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 missense_variant 4.498999 0.95906 0.97002 0.732398 0.986916103545116 0 2.97330525116274e-06 FALSE 2.03636e-05 ENSE00001163932_010 ENSE00001163932 010 4 2747138 2747307 - 35 90 45 T C 2747188 114 120 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAGCAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC 2745410 2745580 2745460 2745461 2745461 exon -16 0.833333333333333 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAGCAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 351 217 0.9964286194705 0.995119797465922 0.995774208468211 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0740426913724395 0.0276585829740039 0.968683463305778 0.944923571294989 NA 0.0508506371732217 NA FALSE NA 0.995 0.078 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA GTT T,C 8.236e-06 4:2745461 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 synonymous_variant -0.946288 0.35775 0.26572 0.732398 0.331188938122755 0 2.97330525116274e-06 FALSE NA ENSE00001163932_011 ENSE00001163932 011 4 2747138 2747307 - 35 90 45 C T 2747194 115 114 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAATAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745466 2745467 2745467 exon -22 0.766666666666667 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTATTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 717 1072 0.937150332526014 0.985515709749879 0.961333021137947 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0147644044279532 0.0180544952579612 0.968683463305778 0.944923571294989 NA 0.0164094498429572 NA FALSE NA 0.908 0.469 rs61734614 downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 rs61734614 1 T:0.0094 T:0.0008 T:0.0187 NA T:0 T:0.0288 T:0.0041 T:0.0041 T:0.0231 ACA C,T 0.018 4:2745467 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 synonymous_variant 0.916345 0.2356 0.60165 0.732398 0.45733423186934 0 2.97330525116274e-06 FALSE 0.0166855 ENSE00001163932_012 ENSE00001163932 012 4 2747138 2747307 - 35 90 45 C T 2747198 116 110 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTTGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745470 2745471 2745471 exon -26 0.722222222222222 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCAACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 581 135 0.93208319339836 0.998826688262085 0.965454940830222 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.00969726530029891 0.0313654737701671 0.968683463305778 0.944923571294989 NA 0.020531369535233 NA FALSE NA 0.056 0.477 rs150960773 downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 rs150960773 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 TCG C,T 6.589e-05 4:2745471 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 missense_variant 1.525973 0.22578 0.13484 0.732398 0.965210707284603 0 2.97330525116274e-06 FALSE 6.91226e-05 ENSE00001163932_013 ENSE00001163932 013 4 2747138 2747307 - 35 90 45 A G 2747214 117 94 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAGCTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745486 2745487 2745487 exon -42 0.544444444444444 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGCTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 117 493 0.999647730095253 0.986429387913665 0.993038559004459 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0772618019971916 0.0189681734217474 0.968683463305778 0.944923571294989 NA 0.0481149877094695 NA FALSE NA 0.999 0.81 rs140673616 downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 rs140673616 1 NA G:0 G:0.0003 AAC A,G 2.471e-05 4:2745487 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 synonymous_variant -0.124818 0.86037 0.51447 0.732398 0.44270487076347 0 2.97330525116274e-06 FALSE 3.25063e-05 ENSE00001163932_014 ENSE00001163932 014 4 2747138 2747307 - 35 90 45 A T 2747221 118 87 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCTATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745493 2745494 2745494 exon 42 0.466666666666667 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATAGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 271 143 0.936116741741858 0.950458375459004 0.943287558600431 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0137308136437966 -0.017002839032914 0.968683463305778 0.944923571294989 NA -0.00163601269455871 NA FALSE NA 0 -1.661 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 COSM447771 1 NA CAA A,T 1.647e-05 4:2745494 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 synonymous_variant -0.429109 0.2009 0.14553 0.732398 0.575732793379029 0 2.97330525116274e-06 FALSE 2.03161e-05 ENSE00001163932_016 ENSE00001163932 016 4 2747138 2747307 - 35 90 45 C T 2747226 120 82 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAATACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745498 2745499 2745499 exon 37 0.411111111111111 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTATTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 1083 39 0.993586498187177 0.95 0.971793249093589 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0712005700891163 -0.017461214491918 0.968683463305778 0.944923571294989 NA 0.0268696777985992 NA FALSE NA 0.013 0.807 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA ACA C,T 1.647e-05 4:2745499 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 missense_variant 0.087858 0.22009 0.15745 0.732398 0.837584963878992 0 2.97330525116274e-06 FALSE 1.2192e-05 ENSE00001163932_017 ENSE00001163932 017 4 2747138 2747307 - 35 90 45 A C 2747227 121 81 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACCCTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745499 2745500 2745500 exon 36 0.4 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGGGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 254 13 0.99247312685951 1 0.996236563429755 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0700871987614492 0.0325387855080821 0.968683463305778 0.944923571294989 NA 0.0513129921347656 NA FALSE NA 0 -2.235 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA CAC A,C 8.236e-06 4:2745500 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 missense_variant -0.415946 0.17563 0.0831 0.732398 0.988306254270525 0 2.97330525116274e-06 FALSE 4.06425e-06 ENSE00001163932_019 ENSE00001163932 019 4 2747138 2747307 - 35 90 45 A C 2747234 123 74 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGCCAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745506 2745507 2745507 exon 29 0.322222222222222 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGGCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 70 312 0.984979094673211 1 0.992489547336606 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0625931665751505 0.0325387855080821 0.968683463305778 0.944923571294989 NA 0.0475659760416163 NA FALSE NA 0 0.356 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA GAC A,C 8.236e-06 4:2745507 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 missense_variant 0.322465 0.22895 0.15642 0.732398 0.170190124081915 0 2.97330525116274e-06 FALSE 8.12816e-06 ENSE00001163932_021 ENSE00001163932 021 4 2747138 2747307 - 35 90 45 C T 2747245 125 63 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGTCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745517 2745518 2745518 exon 18 0.2 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGACACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 472 69 0.976425287116668 0.952817706939561 0.964621497028115 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0540393590186072 -0.0146435075523571 0.968683463305778 0.944923571294989 NA 0.0196979257331251 NA FALSE NA 0 -0.617 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 rs563766324 1 NA GCC C,T 8.236e-06 4:2745518 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 synonymous_variant 1.019611 0.22338 0.12315 0.732398 0.507883746409301 0 2.97330525116274e-06 FALSE 8.13438e-06 ENSE00001163932_022 ENSE00001163932 022 4 2747138 2747307 - 35 90 45 C T 2747260 126 48 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCTGACTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745532 2745533 2745533 exon 3 0.0333333333333333 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCAGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 70 83 0.827276058869972 0.801740308518775 0.814508183694373 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA -0.0951098692280894 -0.165720905973143 0.968683463305778 0.944923571294989 NA -0.130415387600616 NA FALSE NA 0 -0.953 rs146060295 downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 rs146060295 1 T:0.0026 T:0.0098 T:0 NA T:0 T:0 T:0 T:0.0045 T:0 CCG C,T 0.0006507 4:2745533 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 splice_region_variant 0.190772 0.0866 0.00367 0.732398 0.340883979963725 0 2.97330525116274e-06 FALSE 0.000509476 ENSE00001163932_023 ENSE00001163932 023 4 2747138 2747307 - 35 90 45 G A 2747261 127 47 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTTGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC 2745410 2745580 2745533 2745534 2745534 exon 2 0.0222222222222222 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTTGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 95 627 1 0.838884329058005 0.919442164529003 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.077614071901939 -0.128576885433913 0.968683463305778 0.944923571294989 NA -0.0254814067659868 NA FALSE NA 0.797 1.968 NA NA NA TNIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:2745534 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 missense_variant 1.072539 0.24009 0.4115 0.732398 0.798582320233355 0 2.97330525116274e-06 FALSE 7.33879e-05 ENSE00001163932_025 ENSE00001163932 025 4 2747138 2747307 - 35 90 45 C T 2747263 129 45 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGATTGCATGAGGAAGGGACAGAGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745535 2745536 2745536 upstr_intron -1 0 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAATCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 46 40 0.00842312251474078 0 0.00421156125737039 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA -0.91396280558332 -0.967461214491918 0.968683463305778 0.944923571294989 NA -0.940712010037619 NA TRUE NA 0.855 2.525 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA ACT C,T 8.237e-06 4:2745536 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 splice_acceptor_variant 1.430006 0.26871 0.46631 0.163922 0.785642122695673 0.261074 2.97330525116274e-06 FALSE 4.07564e-06 ENSE00001163932_026 ENSE00001163932 026 4 2747138 2747307 - 35 90 45 G C 2747275 130 33 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCGTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC 2745410 2745580 2745547 2745548 2745548 upstr_intron -13 -0.266666666666667 GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCGTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 560 81 0.65469346547548 0.8 0.72734673273774 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA -0.267692462622581 -0.167461214491918 0.968683463305778 0.944923571294989 NA -0.21757683855725 NA FALSE NA 0.004 1.179 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA AGG G,C 8.237e-06 4:2745548 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 intron_variant -0.250413 0.23575 0.20937 0.106106 0.587441827753564 0.237063 2.97330525116274e-06 FALSE 4.10759e-06 ENSE00001163932_027 ENSE00001163932 027 4 2747138 2747307 - 35 90 45 A C 2747282 131 26 GTGTTCTTCTCAAACGAAATGTGAAAGACACTCACGTGAGTCACCTTCTGTTTTAACAGTCGATTTTCTTCCTGCAACTTCTCAATAACACTCTGGACAGAGGTGTGCCCATCTGTGTGTTCCGACTGCATGAGGAAGGGACAGCGAGAAGACACTCTGTCACATACAGC 2745410 2745580 2745554 2745555 2745555 upstr_intron -20 -0.422222222222222 GCTGTATGTGACAGAGTGTCTTCTCGCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 53 133 0.984247793062426 1 0.992123896531213 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0618618649643652 0.0325387855080821 0.968683463305778 0.944923571294989 NA 0.0472003252362236 NA FALSE NA 0 -0.133 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA GAG A,C 8.237e-06 4:2745555 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 intron_variant -0.435964 0.19109 0.08775 0.106106 0.556212146505262 0.175053 2.97330525116274e-06 FALSE 8.2543e-06 ENSE00001163932_028 ENSE00001163932 028 4 2747138 2747307 - 35 90 45 T C 2747293 132 15 GCTGTATGTGACAGGGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC 2745410 2745580 2745565 2745566 2745566 upstr_intron -31 -0.666666666666667 GCTGTATGTGACAGGGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 361 1284 0.996176222347234 0.998913766871614 0.997544994609424 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.0737902942491735 0.0314525523796962 0.968683463305778 0.944923571294989 NA 0.0526214233144349 NA FALSE NA 0 -3.136 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA CTC T,C 4.119e-05 4:2745566 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 intron_variant -0.22478 0.13316 0.01448 0.106106 0.336028520228986 0.100905 2.97330525116274e-06 FALSE 6.29548e-05 ENSE00001163932_029 ENSE00001163932 029 4 2747138 2747307 - 35 90 45 G A 2747296 133 12 GCTGTATGTGATAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC 2745410 2745580 2745568 2745569 2745569 upstr_intron -34 -0.733333333333333 GCTGTATGTGATAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC mutant NA NA NA NA NA 48 126 1 0.992736440480164 0.996368220240082 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA 0.077614071901939 0.0252752259882462 0.968683463305778 0.944923571294989 NA 0.0514446489450926 NA FALSE NA 0 0.213 . downstream_gene_variant MODIFIER TNIP2 HGNC 19118 ENST00000511352 1 NA TGT G,A 8.238e-06 4:2745569 TNIP2 HGNC Symbol protein_coding 14728 ENSG00000168884 ENSE00003634160 intron_variant 0.292982 0.16787 0.05553 0.106106 0.734621376120498 0.100201 2.97330525116274e-06 FALSE NA ENSE00001163932_BRK ENSE00001163932 BRK 4 2747138 2747307 - 35 90 45 A,G; T,T NA NA NA GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCTTTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACCCGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC 2745410 2745580 NA NA NA NA NA NA GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCTTTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACCCGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC GCTGTATGTGACAGAGTGTCTTCTCTCTGTCCCTTCCTCATGCAGTCGGAACACACAGATGGGCACACCTCTGTCCAGAGTGTTATTGAGAAGTTGCAGGAAGAAAATCGACTGTTAAAACAGAAGGTGACTCACGTGAGTGTCTTTCACATTTCGTTTGAGAAGAACAC control NA NA NA NA NA 249 199 0 0 0 0.952788543475432 0.984578383136124 0.922385928098061 0.967461214491918 NA NA -0.922385928098061 -0.967461214491918 0.968683463305778 0.944923571294989 NA -0.944923571294989 NA TRUE NA NA NA NA NA NA TNIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP2 NA NA NA ENSG00000168884 ENSE00003634160 NA NA NA NA NA NA NA 2.97330525116274e-06 FALSE NA ENSE00001164398_000 ENSE00001164398 000 16 1511560 1511729 - 44 72 54 NA NA NA NA NA CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 NA NA NA NA NA NA CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC natural 47 62 0.968724815255971 0.905676812238665 0.937200813747318 446 3812 0.986271916267293 0.952957929450724 0.969614922859009 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 0 0 0 0 0.937200813747318 0.969614922859009 0 0 0 FALSE FALSE NA NA NA NA NA CLCN7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLCN7 NA NA NA ENSG00000103249 ENSE00003639583 NA NA NA NA NA NA NA 0.981282976462541 TRUE NA ENSE00001164398_001 ENSE00001164398 001 16 1511560 1511729 - 44 72 54 A G 1511576 77 154 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCCGAGACCCGGCCTCTGC 1461558 1461728 1461574 1461575 1461575 downstr_intron 28 1.65116279069767 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCCGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 1194 245 0.991286694234116 0.966772112021181 0.979029403127649 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA 0.0050147779668227 0.013814182570457 0.937200813747318 0.969614922859009 NA 0.00941448026863984 NA FALSE NA 0 -0.179 . intron_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/3 1 NA CAG A,G 1.647e-05 16:1461575 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 intron_variant 0.04378 0.13553 0.03554 0.156188 0.391633898385253 0.046875 0.981282976462541 TRUE 1.22435e-05 ENSE00001164398_004 ENSE00001164398 004 16 1511560 1511729 - 44 72 54 G A 1511584 80 146 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCTCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461582 1461583 1461583 downstr_intron 20 1.46511627906977 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCTCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 31 126 0.998664855361391 0.947599515537994 0.973132185449692 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA 0.0123929390940973 -0.0053584139127304 0.937200813747318 0.969614922859009 NA 0.00351726259068347 NA FALSE NA 0 -0.622 . intron_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/3 1 NA GGG G,A 8.236e-06 16:1461583 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 intron_variant 0.125033 0.17621 0.01444 0.156188 0.23696211477825 0.046875 0.981282976462541 TRUE 4.07498e-06 ENSE00001164398_005 ENSE00001164398 005 16 1511560 1511729 - 44 72 54 A T 1511588 81 142 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGACCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461586 1461587 1461587 downstr_intron 16 1.37209302325581 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGACCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 42 218 0.95 0.880163284185334 0.915081642092667 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.0362719162672934 -0.0727946452653903 0.937200813747318 0.969614922859009 NA -0.0545332807663418 NA FALSE NA 0 -1.591 . intron_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/3 1 NA GAC A,T 8.236e-06 16:1461587 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 intron_variant -0.177376 0.13835 0.02883 0.156188 0.405769273683236 0.046875 0.981282976462541 TRUE 4.07325e-06 ENSE00001164398_006 ENSE00001164398 006 16 1511560 1511729 - 44 72 54 G C 1511591 82 139 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTGTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461589 1461590 1461590 downstr_intron 13 1.30232558139535 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTGTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 568 60 0.796252540065206 0.8 0.798126270032603 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.190019376202088 -0.152957929450724 0.937200813747318 0.969614922859009 NA -0.171488652826406 NA FALSE NA 0 -1.289 . intron_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/3 1 NA AGA G,C 3.295e-05 16:1461590 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 intron_variant -0.176798 0.17468 0.02665 0.295142 0.247147644563243 0.07986 0.981282976462541 TRUE 2.03593e-05 ENSE00001164398_007 ENSE00001164398 007 16 1511560 1511729 - 44 72 54 A C 1511593 83 137 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCGTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461591 1461592 1461592 downstr_intron 11 1.25581395348837 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCGTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 47 21 1 1 1 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA 0.0137280837327066 0.047042070549276 0.937200813747318 0.969614922859009 NA 0.0303850771409913 NA FALSE NA 0 -0.735 . intron_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/3 1 NA AAG A,C 8.236e-06 16:1461592 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 intron_variant -0.12675 0.19182 0.02181 0.295142 0.397004162262649 0.09367 0.981282976462541 TRUE 4.07087e-06 ENSE00001164398_008 ENSE00001164398 008 16 1511560 1511729 - 44 72 54 C G 1511597 84 133 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCCTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461595 1461596 1461596 downstr_intron 7 1.16279069767442 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCCTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 231 14 0.945861346603544 0.791679158644381 0.868770252623963 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.0404105696637489 -0.161278770806343 0.937200813747318 0.969614922859009 NA -0.100844670235046 NA FALSE NA 0 -0.176 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:1461596 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 splice_region_variant -0.011835 0.1232 0.00758 0.295142 0.380820651992971 0.101135 0.981282976462541 TRUE 4.07043e-06 ENSE00001164398_009 ENSE00001164398 009 16 1511560 1511729 - 44 72 54 C T 1511597 85 133 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCATCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461595 1461596 1461596 downstr_intron 7 1.16279069767442 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCATCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 489 348 1 0.977752834000336 0.988876417000168 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA 0.0137280837327066 0.024794904549612 0.937200813747318 0.969614922859009 NA 0.0192614941411593 NA FALSE NA 0 -0.176 NA NA NA CLCN7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLCN7 NA NA NA ENSG00000103249 ENSE00003639583 splice_region_variant 0.306428 0.13015 0.06019 0.295142 0.491541544590759 0.101135 0.981282976462541 TRUE 5.29157e-05 ENSE00001164398_010 ENSE00001164398 010 16 1511560 1511729 - 44 72 54 G A 1511598 86 132 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGTGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461596 1461597 1461597 downstr_intron 6 1.13953488372093 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGTGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 32 112 1 0.99862913919573 0.999314569597865 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA 0.0137280837327066 0.045671209745006 0.937200813747318 0.969614922859009 NA 0.0296996467388563 NA FALSE NA 0 -0.1 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CLCN7 HGNC 2025 ENST00000561665 2/3 rs375213357 1 NA CGC G,A 1.647e-05 16:1461597 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 splice_region_variant 0.299182 0.19197 0.06275 0.295142 0.438469258833997 0.109574 0.981282976462541 TRUE 2.84951e-05 ENSE00001164398_011 ENSE00001164398 011 16 1511560 1511729 - 44 72 54 G A 1511617 87 113 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTTCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461615 1461616 1461616 exon -14 0.819444444444444 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTTCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 67 374 1 0.999796228216871 0.999898114108436 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA 0.0137280837327066 0.0468382987661474 0.937200813747318 0.969614922859009 NA 0.030283191249427 NA FALSE NA 1 6.406 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/4 1 NA GGA G,A 8.237e-06 16:1461616 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 missense_variant 6.570066 0.99054 0.94749 0.706548 0.997975716107489 0 0.981282976462541 TRUE 2.03346e-05 ENSE00001164398_012 ENSE00001164398 012 16 1511560 1511729 - 44 72 54 G A 1511631 88 99 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAATGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461629 1461630 1461630 exon -28 0.625 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAATGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant 16 26 0.85 0.85 0.85 NA NA NA NA NA 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 -0.118724815255971 -0.0556768122386654 NA NA 0.937200813747318 0.969614922859009 -0.0872008137473181 NA NA NA FALSE 0 -2.338 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/4 rs539519239 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGT G,A 3.295e-05 16:1461630 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 synonymous_variant 1.394108 0.90092 0.02328 0.706548 0.717547326639392 0 0.981282976462541 TRUE 4.47355e-05 ENSE00001164398_014 ENSE00001164398 014 16 1511560 1511729 - 44 72 54 G A 1511636 90 94 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCATACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461634 1461635 1461635 exon -33 0.555555555555556 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCATACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 559 289 0.965412006556346 0.976980244309414 0.97119612543288 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.0208599097109475 0.02402231485869 0.937200813747318 0.969614922859009 NA 0.00158120257387123 NA FALSE NA 1 6.367 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/4 rs374263832 1 NA A:0 A:0.0001 TGT G,A 1.647e-05 16:1461635 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 missense_variant 2.915376 0.99054 0.98281 0.706548 0.997437535981024 0 0.981282976462541 TRUE 8.13273e-06 ENSE00001164398_015 ENSE00001164398 015 16 1511560 1511729 - 44 72 54 A G 1511641 91 89 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGACCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461639 1461640 1461640 exon 35 0.486111111111111 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGACCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 256 281 0.954821862185728 0.980583276829721 0.967702569507724 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.0314500540815658 0.0276253473789966 0.937200813747318 0.969614922859009 NA -0.00191235335128459 NA FALSE NA 1 5.903 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/4 1 NA GAT A,G 8.236e-06 16:1461640 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 missense_variant 4.37525 0.98833 0.98285 0.706548 0.998405947295397 0 0.981282976462541 TRUE 4.06669e-06 ENSE00001164398_018 ENSE00001164398 018 16 1511560 1511729 - 44 72 54 G C 1511652 94 78 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTGCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461650 1461651 1461651 exon 24 0.333333333333333 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTGCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 203 354 0.979962720763288 0.982456684217897 0.981209702490592 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.00630919550400533 0.0294987547671729 0.937200813747318 0.969614922859009 NA 0.0115947796315838 NA FALSE NA 0.584 0.064 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 2/4 1 NA GGA G,C 8.236e-06 16:1461651 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 missense_variant 0.398285 0.88376 0.49349 0.706548 0.96474265094045 0 0.981282976462541 TRUE 1.22035e-05 ENSE00001164398_020 ENSE00001164398 020 16 1511560 1511729 - 44 72 54 G A 1511665 96 65 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCTTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461663 1461664 1461664 exon 11 0.152777777777778 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCTTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 447 240 0.914291558266422 0.972585228324758 0.94343839329559 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.0719803580008712 0.0196272988740338 0.937200813747318 0.969614922859009 NA -0.0261765295634187 NA FALSE NA 0.569 2.188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:1461664 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 missense_variant 0.932464 0.24636 0.14086 0.706548 0.154865318564024 0 0.981282976462541 TRUE 2.03563e-05 ENSE00001164398_021 ENSE00001164398 021 16 1511560 1511729 - 44 72 54 G C 1511665 97 65 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCGTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461663 1461664 1461664 exon 11 0.152777777777778 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCGTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 154 534 0.982834960605355 0.99514883240737 0.988991896506363 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.00343695566193813 0.0421909029566462 0.937200813747318 0.969614922859009 NA 0.019376973647354 NA FALSE NA 0.569 2.188 NA NA NA CLCN7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLCN7 NA NA NA ENSG00000103249 ENSE00003639583 missense_variant 0.35695 0.29157 0.33175 0.706548 0.964807920600207 0 0.981282976462541 TRUE 4.07126e-06 ENSE00001164398_022 ENSE00001164398 022 16 1511560 1511729 - 44 72 54 G C 1511680 98 50 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCGACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461678 1461679 1461679 upstr_intron -5 -0.0740740740740741 CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCGACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant 26 23 0.85 0.85 0.85 NA NA NA NA NA 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 -0.118724815255971 -0.0556768122386653 NA NA 0.937200813747318 0.969614922859009 -0.087200813747318 NA NA NA FALSE 0.014 0.399 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CLCN7 HGNC 2025 ENST00000561665 1/3 rs553560288 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TGG G,C 8.237e-06 16:1461679 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 splice_region_variant -0.249619 0.20575 0.27772 0.099367 0.400782334760659 0.233556 0.981282976462541 TRUE 4.08107e-06 ENSE00001164398_027 ENSE00001164398 027 16 1511560 1511729 - 44 72 54 T C 1511710 103 20 CTCTCCTTGTGGCCTTGTCGACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461708 1461709 1461709 upstr_intron -35 -0.62962962962963 CTCTCCTTGTGGCCTTGTCGACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 487 418 0.954825131873974 0.963317432523032 0.959071282198503 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA -0.0314467843933193 0.0103595030723077 0.937200813747318 0.969614922859009 NA -0.0105436406605058 NA FALSE NA 0 -0.009 . intron_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 1/3 rs371557997 1 NA C:0 C:0.0001 TTG T,C 1.648e-05 16:1461709 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 intron_variant 0.080318 0.1764 0.0233 0.099367 0.688043584040969 0.0454891 0.981282976462541 TRUE 8.30468e-06 ENSE00001164398_028 ENSE00001164398 028 16 1511560 1511729 - 44 72 54 G A 1511716 104 14 CTCTCCTTGTGGCTTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 1461714 1461715 1461715 upstr_intron -41 -0.740740740740741 CTCTCCTTGTGGCTTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC mutant NA NA NA NA NA 52 366 1 0.997999575945622 0.998999787972811 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 NA NA 0.0137280837327066 0.0450416464948978 0.937200813747318 0.969614922859009 NA 0.0293848651138022 NA FALSE NA 0 -0.814 . intron_variant&non_coding_transcript_variant MODIFIER CLCN7 HGNC 2025 ENST00000561665 1/3 1 NA AGG G,A 8.24e-06 16:1461715 CLCN7 HGNC Symbol protein_coding 30646 ENSG00000103249 ENSE00003639583 intron_variant 0.116602 0.10014 0.01072 0.099367 0.370568611105541 0.0808976 0.981282976462541 TRUE 4.21134e-06 ENSE00001164398_BRK ENSE00001164398 BRK 16 1511560 1511729 - 44 72 54 A,G; T,T NA NA NA CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACTTGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGCCGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC 1461558 1461728 NA NA NA NA NA NA CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACTTGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGCCGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC CTCTCCTTGTGGCCTTGTCAACTGTGCTTCTCTCTTTGCCTTTTTCTGCCACAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAGGTGGGCGTCCTTCTGTCCCCCTGACCCTGAGACCCGGCCTCTGC control 142 18 0 0 0 1181 102 0.00229555489805516 0.00817666216336631 0.00523610853071074 0.968724815255971 0.905676812238665 0.986271916267293 0.952957929450724 -0.968724815255971 -0.905676812238665 -0.983976361369238 -0.944781267287358 0.937200813747318 0.969614922859009 -0.937200813747318 -0.964378814328298 0.02717800058098 TRUE TRUE NA NA NA NA NA CLCN7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLCN7 NA NA NA ENSG00000103249 ENSE00003639583 NA NA NA NA NA NA NA 0.981282976462541 TRUE NA ENSE00001164648_000 ENSE00001164648 000 2 69420417 69420586 + 50 81 39 NA NA NA NA NA GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 NA NA NA NA NA NA GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC natural 199 161 0.987043331361892 0.988512847846463 0.987778089604178 4444 2564 0.995516521879655 0.949950421103295 0.972733471491475 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 0 0 0 0 0.987778089604178 0.972733471491475 0 0 0 FALSE FALSE NA NA NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00001164648 NA NA NA NA NA NA NA 0.98528320310747 TRUE NA ENSE00001164648_001 ENSE00001164648 001 2 69420417 69420586 + 50 81 39 T C 69420437 1456 21 GCCACAGGTCTGGTTTCATACGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193304 69193305 69193305 upstr_intron -30 -0.58 GCCACAGGTCTGGTTTCATACGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 685 183 0.995724376008479 1 0.99786218800424 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.000207854128824403 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0251287165127645 NA FALSE NA 0.888 2.304 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000303714 16/17 1 NA ATG T,C 8.236e-06 2:69193305 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 intron_variant 0.965016 0.88242 0.81707 0.088506 0.737252975473892 0.151445 0.98528320310747 TRUE 4.06184e-06 ENSE00001164648_003 ENSE00001164648 003 2 69420417 69420586 + 50 81 39 C A 69420443 1458 27 GCCACAGGTCTGGTTTCATATGTAATATTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193310 69193311 69193311 upstr_intron -24 -0.46 GCCACAGGTCTGGTTTCATATGTAATATTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 541 161 0.997150976614525 1 0.998575488307262 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00163445473486989 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0258420168157872 NA FALSE NA 0.488 0.69 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000303714 16/17 1 NA TCT C,A 8.236e-06 2:69193311 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 intron_variant 1.665484 0.97843 0.70634 0.088506 0.834772005693247 0.151445 0.98528320310747 TRUE 4.06207e-06 ENSE00001164648_004 ENSE00001164648 004 2 69420417 69420586 + 50 81 39 G C 69420446 1459 30 GCCACAGGTCTGGTTTCATATGTAATCTTCGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193313 69193314 69193314 upstr_intron -21 -0.4 GCCACAGGTCTGGTTTCATATGTAATCTTCGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 441 291 0.994522031999435 1 0.997261015999718 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.000994489880219551 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0245275445082425 NA FALSE NA 0.011 0.119 rs149300234 intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000303714 16/17 rs149300234 1 C:0.0080 C:0 C:0.0072 NA C:0 C:0.0229 C:0.0123 C:0.003 C:0.0197 TGG G,C 0.017 2:69193314 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 intron_variant 0.58358 0.19194 0.04529 0.088506 0.698500890318677 0.0937141 0.98528320310747 TRUE 0.0176522 ENSE00001164648_007 ENSE00001164648 007 2 69420417 69420586 + 50 81 39 C T 69420480 1462 64 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGTCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193347 69193348 69193348 exon 14 0.172839506172839 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGTCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 852 229 0.99143630216098 1 0.99571815108049 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.004080219718675 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0229846795890148 NA FALSE NA 1 6.226 rs141308086 missense_variant MODERATE ANTXR1 HGNC 21014 ENST00000303714 17/18 rs141308086 1 deleterious(0) probably_damaging(0.984) NA T:0 T:0.0001 GCC C,T 3.295e-05 2:69193348 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 missense_variant 7.498312 0.99027 0.97018 0.732398 0.998125971543232 0 0.98528320310747 TRUE 2.43645e-05 ENSE00001164648_008 ENSE00001164648 008 2 69420417 69420586 + 50 81 39 C T 69420481 1463 65 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCTTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193348 69193349 69193349 exon 15 0.185185185185185 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCTTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 1134 847 0.962607959616152 0.997155557844022 0.979881758730087 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.0329085622635023 0.0472051367407267 0.987778089604178 0.972733471491475 NA 0.00714828723861222 NA FALSE NA 0.989 -0.148 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 rs560706300 1 NA CCT C,T 2.471e-05 2:69193349 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant 1.88325 0.96491 0.56151 0.732398 0.609783774985619 0 0.98528320310747 TRUE 8.1215e-06 ENSE00001164648_009 ENSE00001164648 009 2 69420417 69420586 + 50 81 39 T G 69420485 1464 69 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGGGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193352 69193353 69193353 exon 19 0.234567901234568 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGGGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 945 85 0.993218029515418 1 0.996609014757709 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.00229849236423618 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0238755432662342 NA FALSE NA 1 4.758 rs146995499 missense_variant MODERATE ANTXR1 HGNC 21014 ENST00000303714 17/18 rs146995499 1 deleterious(0) possibly_damaging(0.891) NA G:0 G:0.0008 GTG T,G 0.000313 2:69193353 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 missense_variant 5.940811 0.98125 0.94924 0.732398 0.931840804320986 0 0.98528320310747 TRUE 0.000211161 ENSE00001164648_011 ENSE00001164648 011 2 69420417 69420586 + 50 81 39 C T 69420491 1466 75 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCTTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193358 69193359 69193359 exon 25 0.308641975308642 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCTTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 415 873 0.98488959014517 1 0.992444795072585 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.010626931734485 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0197113235811098 NA FALSE NA 0.939 1.187 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 1 NA CCT C,T 8.236e-06 2:69193359 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant 1.917293 0.96046 0.76854 0.732398 0.748372597213441 0 0.98528320310747 TRUE 4.06095e-06 ENSE00001164648_012 ENSE00001164648 012 2 69420417 69420586 + 50 81 39 A C 69420493 1467 77 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTCCTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193360 69193361 69193361 exon 27 0.333333333333333 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTCCTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 1797 876 0.997962443356242 1 0.998981221678121 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.0024459214765874 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.026247750186646 NA FALSE NA 0.459 -0.72 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 1 NA TAC A,C 8.236e-06 2:69193361 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant 0.128415 0.92317 0.12767 0.732398 0.729158647377155 0 0.98528320310747 TRUE 4.06095e-06 ENSE00001164648_013 ENSE00001164648 013 2 69420417 69420586 + 50 81 39 C G 69420494 1468 78 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTAGTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193361 69193362 69193362 exon 28 0.345679012345679 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTAGTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 549 145 0.99398095861966 0.998907723250436 0.996444340935048 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.00153556325999515 0.0489573021471408 0.987778089604178 0.972733471491475 NA 0.0237108694435728 NA FALSE NA 0.635 0.533 . missense_variant MODERATE ANTXR1 HGNC 21014 ENST00000303714 17/18 1 tolerated(0.15) benign(0.03) NA ACT C,G 8.236e-06 2:69193362 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 missense_variant 2.816665 0.96733 0.36172 0.732398 0.958140142864452 0 0.98528320310747 TRUE 4.06088e-06 ENSE00001164648_014 ENSE00001164648 014 2 69420417 69420586 + 50 81 39 G A 69420496 1469 80 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTAAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193363 69193364 69193364 exon 30 0.37037037037037 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTAAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 1640 405 0.989506391822597 0.97995736524146 0.984731878532028 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.00601013005705797 0.0300069441381643 0.987778089604178 0.972733471491475 NA 0.0119984070405532 NA FALSE NA 0.998 0.14 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 1 NA TGA G,A 8.236e-06 2:69193364 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant 1.279085 0.94243 0.32989 0.732398 0.739511250540226 0 0.98528320310747 TRUE 4.06088e-06 ENSE00001164648_016 ENSE00001164648 016 2 69420417 69420586 + 50 81 39 A G 69420505 1471 89 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGGTATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193372 69193373 69193373 exon 39 0.481481481481481 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGGTATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 685 345 0.998609953943176 1 0.999304976971588 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00309343206352086 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0265715054801127 NA FALSE NA 0.078 -0.567 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 rs371818987 1 NA G:0 G:0.0003 GAT A,G 0.0003212 2:69193373 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant 0.778816 0.94928 0.21319 0.732398 0.702056737535279 0 0.98528320310747 TRUE 0.0002477 ENSE00001164648_017 ENSE00001164648 017 2 69420417 69420586 + 50 81 39 A G 69420507 1472 91 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATGTGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193374 69193375 69193375 exon -41 0.506172839506173 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATGTGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 1421 1182 0.998416541949591 0.995491433251054 0.996953987600323 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00290002006993662 0.0455410121477587 0.987778089604178 0.972733471491475 NA 0.0242205161088477 NA FALSE NA 1 7.422 . missense_variant MODERATE ANTXR1 HGNC 21014 ENST00000303714 17/18 1 deleterious(0.05) probably_damaging(1) NA TAT A,G 8.236e-06 2:69193375 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 missense_variant 4.963435 0.98836 0.98037 0.732398 0.995547748039929 0 0.98528320310747 TRUE 4.06072e-06 ENSE00001164648_018 ENSE00001164648 018 2 69420417 69420586 + 50 81 39 T C 69420508 1473 92 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATACGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193375 69193376 69193376 exon -40 0.518518518518518 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATACGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 45 969 1 0.999408701380419 0.999704350690209 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00448347812034533 0.0494582802771234 0.987778089604178 0.972733471491475 NA 0.0269708791987344 NA FALSE NA 0.986 0.638 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 1 NA ATG T,C 1.647e-05 2:69193376 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant -0.108168 0.96342 0.60256 0.732398 0.466788175790896 0 0.98528320310747 TRUE 1.62426e-05 ENSE00001164648_019 ENSE00001164648 019 2 69420417 69420586 + 50 81 39 G A 69420513 1474 97 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCATGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193380 69193381 69193381 exon -35 0.580246913580247 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCATGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 818 520 1 0.983846850249806 0.991923425124903 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00448347812034533 0.0338964291465105 0.987778089604178 0.972733471491475 NA 0.0191899536334279 NA FALSE NA 1 6.051 . missense_variant MODERATE ANTXR1 HGNC 21014 ENST00000303714 17/18 COSM1668998 1 deleterious(0.03) benign(0.274) NA CGT G,A 8.236e-06 2:69193381 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 missense_variant 5.981249 0.99078 0.96704 0.732398 0.998842175362944 0 0.98528320310747 TRUE 1.21819e-05 ENSE00001164648_020 ENSE00001164648 020 2 69420417 69420586 + 50 81 39 T A 69420529 1475 113 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGACCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193396 69193397 69193397 exon -19 0.777777777777778 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGACCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 333 17 1 1 1 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00448347812034533 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.027266528508525 NA FALSE NA 0.996 0.144 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 rs374062082 1 NA A:0 A:0.0001 GTC T,A 0.0006342 2:69193397 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant 1.109879 0.96561 0.61097 0.732398 0.673205591889914 0 0.98528320310747 TRUE 0.000365473 ENSE00001164648_021 ENSE00001164648 021 2 69420417 69420586 + 50 81 39 A C 69420532 1476 116 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCCCAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193399 69193400 69193400 exon -16 0.814814814814815 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCCCAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 423 184 1 1 1 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00448347812034533 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.027266528508525 NA FALSE NA 0.156 -0.847 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 1 NA CAC A 8.236e-06 2:69193400 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant -0.224429 0.96634 0.17878 0.732398 0.655732254317936 0 0.98528320310747 TRUE 8.12123e-06 ENSE00001164648_022 ENSE00001164648 022 2 69420417 69420586 + 50 81 39 G A 69420535 1477 119 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAACCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193402 69193403 69193403 exon -13 0.851851851851852 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAACCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 359 227 0.998151293555197 1 0.999075646777599 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00263477167554227 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0263421752861234 NA FALSE NA 1 1.956 . synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 1 NA AGC G 1.647e-05 2:69193403 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 synonymous_variant 0.74143 0.96952 0.83982 0.732398 0.630404416923783 0 0.98528320310747 TRUE 2.03039e-05 ENSE00001164648_025 ENSE00001164648 025 2 69420417 69420586 + 50 81 39 C T 69420546 1480 130 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACATGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193413 69193414 69193414 exon -2 0.987654320987654 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACATGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 292 292 1 0.994888530120117 0.997444265060059 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00448347812034533 0.0449381090168217 0.987778089604178 0.972733471491475 NA 0.0247107935685835 NA FALSE NA 1 3.853 . missense_variant&splice_region_variant MODERATE ANTXR1 HGNC 21014 ENST00000303714 17/18 rs369137693 1 tolerated(0.12) possibly_damaging(0.652) NA T:0 T:0.0001 ACG C 2.471e-05 2:69193414 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 missense_variant 5.540808 0.9773 0.94369 0.732398 0.996196460084531 0 0.98528320310747 TRUE 2.84294e-05 ENSE00001164648_026 ENSE00001164648 026 2 69420417 69420586 + 50 81 39 G A 69420547 1481 131 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACAGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193414 69193415 69193415 exon -1 1 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACAGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 590 55 0.979024642197542 0.999305042700642 0.989164842449092 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.0164918796821122 0.0493546215973463 0.987778089604178 0.972733471491475 NA 0.016431370957617 NA FALSE NA 1 7.793 . splice_region_variant&synonymous_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/18 rs372378888 1 NA A:0 A:0.0001 CGG G 4.942e-05 2:69193415 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 splice_region_variant 2.316969 0.99131 0.99347 0.732398 0.953275211503104 0 0.98528320310747 TRUE 4.06161e-05 ENSE00001164648_027 ENSE00001164648 027 2 69420417 69420586 + 50 81 39 G A 69420551 1482 135 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAAGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193418 69193419 69193419 downstr_intron 4 1.10526315789474 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAAGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 502 52 1 1 1 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00448347812034533 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.027266528508525 NA FALSE NA 1 1.352 . splice_region_variant&intron_variant LOW ANTXR1 HGNC 21014 ENST00000303714 17/17 rs534869222 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G 8.236e-06 2:69193419 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 splice_region_variant 1.695584 0.96244 0.58069 0.106106 0.787736218493616 0.440554 0.98528320310747 TRUE 4.06167e-06 ENSE00001164648_029 ENSE00001164648 029 2 69420417 69420586 + 50 81 39 G A 69420557 1484 141 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCATTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193424 69193425 69193425 downstr_intron 10 1.26315789473684 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCATTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 280 368 1 0.991847436411417 0.995923718205708 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.00448347812034533 0.0418970153081214 0.987778089604178 0.972733471491475 NA 0.0231902467142334 NA FALSE NA 0 -0.45 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000303714 17/17 rs373997643 1 NA A:0 A:0.0001 CGT G 8.236e-06 2:69193425 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 intron_variant -0.152675 0.12314 0.00468 0.106106 0.683447251516358 0.046323 0.98528320310747 TRUE 1.21893e-05 ENSE00001164648_030 ENSE00001164648 030 2 69420417 69420586 + 50 81 39 C A 69420564 1485 148 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTAATTAATGGTGTCTCTCTCTCTC 69193284 69193454 69193431 69193432 69193432 downstr_intron 17 1.44736842105263 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTAATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 1305 269 0.994803436930558 0.998822319712245 0.996812878321401 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.000713084949096721 0.0488718986089491 0.987778089604178 0.972733471491475 NA 0.0240794068299262 NA FALSE NA 0 -0.08 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000303714 17/17 1 NA TCA C 1.647e-05 2:69193432 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 intron_variant -0.031735 0.17712 0.01837 0.106106 0.315862759069989 0.046323 0.98528320310747 TRUE 8.1314e-06 ENSE00001164648_031 ENSE00001164648 031 2 69420417 69420586 + 50 81 39 G A 69420572 1486 156 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGATGTCTCTCTCTCTC 69193284 69193454 69193439 69193440 69193440 downstr_intron 25 1.65789473684211 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGATGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 1638 125 0.996219396211475 1 0.998109698105738 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA 0.000702874331820591 0.0500495788967046 0.987778089604178 0.972733471491475 NA 0.0253762266142626 NA FALSE NA 0 -0.632 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000303714 17/17 1 NA GGT G 3.295e-05 2:69193440 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 intron_variant 0.263624 0.21947 0.07448 0.106106 0.765932269784201 0.046323 0.98528320310747 TRUE 1.66811e-05 ENSE00001164648_032 ENSE00001164648 032 2 69420417 69420586 + 50 81 39 T G 69420573 1487 157 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGGGTCTCTCTCTCTC 69193284 69193454 69193440 69193441 69193441 downstr_intron 26 1.68421052631579 GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGGGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC mutant NA NA NA NA NA 729 629 0.984039349907488 0.999253488992609 0.991646419450048 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 NA NA -0.011477171972167 0.0493030678893137 0.987778089604178 0.972733471491475 NA 0.0189129479585733 NA FALSE NA 0 -0.468 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000303714 17/17 1 NA GTG T 8.236e-06 2:69193441 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001164648 intron_variant 0.338067 0.17029 0.03065 0.106106 0.66728041478028 0.046323 0.98528320310747 TRUE 4.07166e-06 ENSE00001164648_BRK ENSE00001164648 BRK 2 69420417 69420586 + 50 81 39 A,G; T,T NA NA NA GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCTTGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGCCAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC 69193284 69193454 NA NA NA NA NA NA GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCTTGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGCCAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC GCCACAGGTCTGGTTTCATATGTAATCTTGGTGCATTTGTTTTATTTCAGGGAAAACTCGATGCCTTGTGGGTCCTACTGAGGAAAGGATATGATCGTGTGTCTGTGATGCGTCCACAGCCAGGAGACACGGTAGGACTCGTTAATTCATTAATGGTGTCTCTCTCTCTC control 325 79 0 0 0 407 140 0.182670523847411 0.0861078688541529 0.134389196350782 0.987043331361892 0.988512847846463 0.995516521879655 0.949950421103295 -0.987043331361892 -0.988512847846463 -0.812845998032244 -0.863842552249143 0.987778089604178 0.972733471491475 -0.987778089604178 -0.838344275140693 0.149433814463484 TRUE TRUE NA NA NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00001164648 NA NA NA NA NA NA NA 0.98528320310747 TRUE NA ENSE00001165072_000 ENSE00001165072 000 5 31495357 31495526 - 36 87 47 NA NA NA NA NA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 NA NA NA NA NA NA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA natural 42 18 0.968843915287275 0.924870740812747 0.946857328050011 8765 8404 0.979707684624504 0.893416553880588 0.936562119252546 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 0 0 0 0 0.946857328050011 0.936562119252546 0 0 0 FALSE FALSE NA NA NA NA NA DROSHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DROSHA NA NA NA ENSG00000113360 ENSE00001165072 NA NA NA NA NA NA NA 0.99639964840206 TRUE NA ENSE00001165072_001 ENSE00001165072 001 5 31495357 31495526 - 36 87 47 T C 31495368 361 159 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCGTATCATTTAAA 31495249 31495419 31495260 31495261 31495261 downstr_intron 25 1.71428571428571 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCGTATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 967 1727 0.995679555460224 0.998610097674744 0.997144826567484 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0159718708357204 0.105193543794156 0.946857328050011 0.936562119252546 NA 0.060582707314938 NA FALSE NA 0 -0.428 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 8/31 1 NA ATG T,C 8.28e-06 5:31495261 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 intron_variant -0.093799 0.18241 0.05877 0.156188 0.406754409352741 0.0640786 0.99639964840206 TRUE 2.0631e-05 ENSE00001165072_002 ENSE00001165072 002 5 31495357 31495526 - 36 87 47 T C 31495377 362 150 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAGTCACATGCATATCATTTAAA 31495249 31495419 31495269 31495270 31495270 downstr_intron 16 1.45714285714286 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAGTCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 1482 1323 0.99924781977146 0.999822837049667 0.999535328410563 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0195401351469563 0.106406283169078 0.946857328050011 0.936562119252546 NA 0.0629732091580172 NA FALSE NA 0.141 -0.265 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 8/31 1 NA ATT T,C 8.28e-06 5:31495270 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 intron_variant -0.122313 0.18194 0.08615 0.156188 0.309910275040063 0.0640786 0.99639964840206 TRUE NA ENSE00001165072_003 ENSE00001165072 003 5 31495357 31495526 - 36 87 47 C T 31495402 363 125 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACAAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495294 31495295 31495295 exon -10 0.896551724137931 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACAAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 2153 933 0.928839876941667 0.991558358611602 0.960199117776634 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA -0.0508678076828366 0.0981418047310134 0.946857328050011 0.936562119252546 NA 0.0236369985240884 NA FALSE NA 0.999 0.491 . synonymous_variant LOW DROSHA HGNC 17904 ENST00000442743 8/32 rs572424094&COSM1177356 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCG C,T 1.656e-05 5:31495295 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 synonymous_variant 1.648541 0.93617 0.37663 0.732398 0.769513892115659 0 0.99639964840206 TRUE 8.13253e-06 ENSE00001165072_004 ENSE00001165072 004 5 31495357 31495526 - 36 87 47 G A 31495403 364 124 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTATGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495295 31495296 31495296 exon -11 0.885057471264368 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTATGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 1220 661 0.863679285830162 0.999884768005417 0.931782026917789 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA -0.116028398794342 0.106468214124829 0.946857328050011 0.936562119252546 NA -0.00478009233475679 NA FALSE NA 1 8.41 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 8/32 1 deleterious(0) probably_damaging(0.985) NA CGT G,A 8.279e-06 5:31495296 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 missense_variant 6.646108 0.98922 0.98917 0.732398 0.999093254230872 0 0.99639964840206 TRUE 4.06554e-06 ENSE00001165072_005 ENSE00001165072 005 5 31495357 31495526 - 36 87 47 T G 31495422 365 105 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGCTCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495314 31495315 31495315 exon -30 0.666666666666667 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGCTCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 1662 910 0.999702484542402 0.996715506548048 0.998208995545225 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0199947999178982 0.10329895266746 0.946857328050011 0.936562119252546 NA 0.061646876292679 NA FALSE NA 1 6.854 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 8/32 rs368688639 1 tolerated(0.17) benign(0.145) NA G:0 G:0.0001 ATC T,G 8.279e-06 5:31495315 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 missense_variant 3.504111 0.98629 0.9846 0.732398 0.986498603533596 0 0.99639964840206 TRUE 4.06227e-06 ENSE00001165072_006 ENSE00001165072 006 5 31495357 31495526 - 36 87 47 C G 31495423 366 104 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGCATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495315 31495316 31495316 exon -31 0.655172413793103 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGCATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 714 1996 0.997113239653473 1 0.998556619826736 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0174055550289689 0.106583446119412 0.946857328050011 0.936562119252546 NA 0.0619945005741903 NA FALSE NA 0.885 -0.158 rs186407279 synonymous_variant LOW DROSHA HGNC 17904 ENST00000442743 8/32 rs186407279 1 G:0.0008 G:0 G:0 NA G:0.004 G:0 G:0 TCC C,G 0.0001987 5:31495316 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 synonymous_variant 1.417709 0.96131 0.78836 0.732398 0.64412098991084 0 0.99639964840206 TRUE 0.00022345 ENSE00001165072_007 ENSE00001165072 007 5 31495357 31495526 - 36 87 47 G A 31495425 367 102 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACTGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495317 31495318 31495318 exon -33 0.632183908045977 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACTGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 373 1736 1 0.992472029639837 0.996236014819919 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0202923153754961 0.0990554757592489 0.946857328050011 0.936562119252546 NA 0.0596738955673725 NA FALSE NA 1 4.971 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 8/32 1 deleterious(0.03) benign(0.225) NA CGG G,A 8.278e-06 5:31495318 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 missense_variant 6.10104 0.98099 0.96134 0.732398 0.998815453681663 0 0.99639964840206 TRUE 1.21879e-05 ENSE00001165072_008 ENSE00001165072 008 5 31495357 31495526 - 36 87 47 C A 31495442 368 85 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGTCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495334 31495335 31495335 exon 38 0.436781609195402 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGTCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 418 2561 0.99289786942115 0.997922570389107 0.995410219905129 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0131901847966464 0.104506016508519 0.946857328050011 0.936562119252546 NA 0.0588481006525827 NA FALSE NA 1 6.667 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 8/32 rs372281038 1 deleterious(0) possibly_damaging(0.603) NA A:0 A:0.0001 GCC C,A 8.278e-06 5:31495335 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 missense_variant 6.703364 0.98892 0.98621 0.732398 0.99713456679916 0 0.99639964840206 TRUE 4.06263e-06 ENSE00001165072_009 ENSE00001165072 009 5 31495357 31495526 - 36 87 47 T C 31495458 369 69 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTGTGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495350 31495351 31495351 exon 22 0.252873563218391 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTGTGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 985 2216 0.998902850057151 0.998121342004107 0.998512096030629 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0191951654326467 0.104704788123518 0.946857328050011 0.936562119252546 NA 0.0619499767780826 NA FALSE NA 1 5.172 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 8/32 rs375949381&COSM3393524 1 tolerated(0.5) benign(0.085) NA C:0.0003 C:0 ATA T,C 2.483e-05 5:31495351 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 missense_variant 1.202421 0.98054 0.97381 0.732398 0.966037310686627 0 0.99639964840206 TRUE 1.21873e-05 ENSE00001165072_010 ENSE00001165072 010 5 31495357 31495526 - 36 87 47 C T 31495471 370 56 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAACCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495363 31495364 31495364 exon 9 0.103448275862069 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAACCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 3225 1387 0.997719174903276 0.999716892443311 0.998718033673294 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0180114902787725 0.106300338562723 0.946857328050011 0.936562119252546 NA 0.0621559144207476 NA FALSE NA 0.998 0.55 . synonymous_variant LOW DROSHA HGNC 17904 ENST00000442743 8/32 1 NA GCT C,T 3.311e-05 5:31495364 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 synonymous_variant 1.840707 0.95489 0.38751 0.732398 0.626665955140149 0 0.99639964840206 TRUE 2.44085e-05 ENSE00001165072_011 ENSE00001165072 011 5 31495357 31495526 - 36 87 47 T G 31495473 371 54 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCCAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495365 31495366 31495366 exon 7 0.0804597701149425 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCCAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 549 1851 1 0.997993492079023 0.998996746039511 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0202923153754961 0.104576938198435 0.946857328050011 0.936562119252546 NA 0.0624346267869654 NA FALSE NA 1 5.161 . missense_variant MODERATE DROSHA HGNC 17904 ENST00000442743 8/32 1 tolerated(0.27) benign(0.053) NA TTG T,G 8.278e-06 5:31495366 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 missense_variant 2.402809 0.98994 0.99494 0.732398 0.986858448188394 0 0.99639964840206 TRUE 4.06921e-06 ENSE00001165072_012 ENSE00001165072 012 5 31495357 31495526 - 36 87 47 C A 31495479 372 48 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGTCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495371 31495372 31495372 exon 1 0.0114942528735632 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGTCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 671 1465 0.992599976336087 0.999892031283277 0.996246003809682 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0128922917115828 0.106475477402689 0.946857328050011 0.936562119252546 NA 0.0596838845571357 NA FALSE NA 1 3.795 rs61751194 missense_variant&splice_region_variant MODERATE DROSHA HGNC 17904 ENST00000442743 8/32 rs61751194 1 tolerated(0.66) benign(0.004) A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 A:0 A:0.0018 GCC C,A 0.001656 5:31495372 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 missense_variant 1.672611 0.9776 0.93516 0.732398 0.837654710276148 0 0.99639964840206 TRUE 0.0015258 ENSE00001165072_013 ENSE00001165072 013 5 31495357 31495526 - 36 87 47 G A 31495482 373 45 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTTAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495374 31495375 31495375 upstr_intron -3 -0.0425531914893617 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTTAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 1285 1169 0.994037229299013 0.965002382147371 0.979519805723192 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0143295446745092 0.0715858282667822 0.946857328050011 0.936562119252546 NA 0.0429576864706457 NA FALSE NA 0.001 0.347 . splice_region_variant&intron_variant LOW DROSHA HGNC 17904 ENST00000442743 7/31 1 NA TGA G,A 8.278e-06 5:31495375 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 splice_region_variant 1.11875 0.21863 0.09759 0.163922 0.652722854035338 0.425498 0.99639964840206 TRUE 4.10226e-06 ENSE00001165072_014 ENSE00001165072 014 5 31495357 31495526 - 36 87 47 G A 31495484 374 43 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCTTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495376 31495377 31495377 upstr_intron -5 -0.0851063829787234 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCTTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 1733 1467 0.999976250748959 0.996693827596877 0.998335039172918 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0202685661244556 0.103277273716288 0.946857328050011 0.936562119252546 NA 0.061772919920372 NA FALSE NA 0.022 0.488 . splice_region_variant&intron_variant LOW DROSHA HGNC 17904 ENST00000442743 7/31 rs371710880 1 NA A:0 A:0.0001 AGG G,A 2.483e-05 5:31495377 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 splice_region_variant 0.951537 0.28248 0.28535 0.088506 0.641742913083146 0.86154 0.99639964840206 TRUE 4.9317e-05 ENSE00001165072_015 ENSE00001165072 015 5 31495357 31495526 - 36 87 47 G A 31495485 375 42 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCTCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495377 31495378 31495378 upstr_intron -6 -0.106382978723404 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCTCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 834 1203 0.941714558941901 0.999646539408656 0.970680549175279 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA -0.0379931256826029 0.106229985528068 0.946857328050011 0.936562119252546 NA 0.0341184299227325 NA FALSE NA 0.043 0.58 . splice_region_variant&intron_variant LOW DROSHA HGNC 17904 ENST00000442743 7/31 rs544075057 1 A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 GGG G,A 0.000745 5:31495378 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 splice_region_variant 0.66563 0.19347 0.11679 0.088506 0.606807781646404 0.30763 0.99639964840206 TRUE 0.000657954 ENSE00001165072_016 ENSE00001165072 016 5 31495357 31495526 - 36 87 47 G T 31495486 376 41 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCACCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495378 31495379 31495379 upstr_intron -7 -0.127659574468085 GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCACCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 894 1629 0.999538759961004 0.992434522442328 0.995986641201666 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0198310753365006 0.0990179685617392 0.946857328050011 0.936562119252546 NA 0.0594245219491199 NA FALSE NA 0.08 1.473 . splice_region_variant&intron_variant LOW DROSHA HGNC 17904 ENST00000442743 7/31 1 NA GGG G,T 8.278e-06 5:31495379 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 splice_region_variant 0.583993 0.25215 0.60648 0.088506 0.534144030881954 0.30763 0.99639964840206 TRUE 4.15749e-06 ENSE00001165072_017 ENSE00001165072 017 5 31495357 31495526 - 36 87 47 C G 31495495 377 32 GTACTCTTGCTTTACTTGTAAACTGATTTTCCTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495387 31495388 31495388 upstr_intron -16 -0.319148936170213 GTACTCTTGCTTTACTTGTAAACTGATTTTCCTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 1228 4381 0.997157069094357 0.988375050188571 0.992766059641464 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0174493844698532 0.0949584963079828 0.946857328050011 0.936562119252546 NA 0.056203940388918 NA FALSE NA 0 -2.325 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:31495388 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 intron_variant -0.367701 0.18573 0.05247 0.088506 0.360270927177631 0.153832 0.99639964840206 TRUE 4.14096e-06 ENSE00001165072_018 ENSE00001165072 018 5 31495357 31495526 - 36 87 47 C T 31495495 378 32 GTACTCTTGCTTTACTTGTAAACTGATTTTCATTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495387 31495388 31495388 upstr_intron -16 -0.319148936170213 GTACTCTTGCTTTACTTGTAAACTGATTTTCATTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 565 803 0.845659276162784 0.994692748728602 0.920176012445693 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA -0.13404840846172 0.101276194848014 0.946857328050011 0.936562119252546 NA -0.0163861068068529 NA FALSE NA 0 -2.325 NA NA NA DROSHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DROSHA NA NA NA ENSG00000113360 ENSE00001165072 intron_variant -0.26023 0.1574 0.02853 0.088506 0.455453477993204 0.153832 0.99639964840206 TRUE 3.31277e-05 ENSE00001165072_020 ENSE00001165072 020 5 31495357 31495526 - 36 87 47 A T 31495499 380 28 GTACTCTTGCTTTACTTGTAAACTGATATTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495391 31495392 31495392 upstr_intron -20 -0.404255319148936 GTACTCTTGCTTTACTTGTAAACTGATATTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 602 1835 0.958888064556042 0.998153791293685 0.978520927924863 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA -0.0208196200684615 0.104737237413096 0.946857328050011 0.936562119252546 NA 0.0419588086723173 NA FALSE NA 0.001 0.99 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 7/31 1 NA AAA A,T 8.279e-06 5:31495392 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 intron_variant -0.113886 0.3151 0.2014 0.088506 0.509469797895597 0.635559 0.99639964840206 TRUE 4.14003e-06 ENSE00001165072_021 ENSE00001165072 021 5 31495357 31495526 - 36 87 47 T C 31495506 381 21 GTACTCTTGCTTTACTTGTAGACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495398 31495399 31495399 upstr_intron -27 -0.553191489361702 GTACTCTTGCTTTACTTGTAGACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 555 93 0.999405283226056 0.876987776970027 0.938196530098041 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0196975986015524 -0.0164287769105619 0.946857328050011 0.936562119252546 NA 0.00163441084549526 NA FALSE NA 0.7 2.016 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 7/31 1 NA TTT T,C 8.279e-06 5:31495399 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 intron_variant 0.217969 0.25288 0.86262 0.088506 0.506375978439969 0.153832 0.99639964840206 TRUE 4.18817e-06 ENSE00001165072_022 ENSE00001165072 022 5 31495357 31495526 - 36 87 47 A C 31495508 382 19 GTACTCTTGCTTTACTTGGAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 31495400 31495401 31495401 upstr_intron -29 -0.595744680851064 GTACTCTTGCTTTACTTGGAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA mutant NA NA NA NA NA 1571 2472 0.994901497055364 0.998664928147302 0.996783212601333 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 NA NA 0.0151938124308597 0.105248374266714 0.946857328050011 0.936562119252546 NA 0.0602210933487867 NA FALSE NA 0.965 3.619 . intron_variant MODIFIER DROSHA HGNC 17904 ENST00000442743 7/31 1 NA TAC A,C 8.279e-06 5:31495401 DROSHA HGNC Symbol protein_coding 131699 ENSG00000113360 ENSE00001165072 intron_variant -0.004842 0.2935 0.95372 0.088506 0.631781523056735 0.153832 0.99639964840206 TRUE NA ENSE00001165072_BRK ENSE00001165072 BRK 5 31495357 31495526 - 36 87 47 A,G; T,T NA NA NA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCTTGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTACCAAGTTTCTAAAGAATCACATGCATATCATTTAAA 31495249 31495419 NA NA NA NA NA NA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCTTGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTACCAAGTTTCTAAAGAATCACATGCATATCATTTAAA GTACTCTTGCTTTACTTGTAAACTGATTTTCGTTTTTTTCCCCTCAGGCCATCAAGCCCTGTCGTCCTATGACCAACAATGCTGGCAGACTTTTCCACTACCGGATCACAGTCTCCCCGCCTACGAACTTTTTAGTAAGTTTCTAAAGAATCACATGCATATCATTTAAA control 91 38 0 0 0 948 2967 0.0114865599902155 0 0.00574327999510774 0.968843915287275 0.924870740812747 0.979707684624504 0.893416553880588 -0.968843915287275 -0.924870740812747 -0.968221124634288 -0.893416553880588 0.946857328050011 0.936562119252546 -0.946857328050011 -0.930818839257438 0.0160384887925725 TRUE TRUE NA NA NA NA NA DROSHA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DROSHA NA NA NA ENSG00000113360 ENSE00001165072 NA NA NA NA NA NA NA 0.99639964840206 TRUE NA ENSE00001165456_000 ENSE00001165456 000 15 80847353 80847522 + 53 75 42 NA NA NA NA NA ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 NA NA NA NA NA NA ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG natural 57 36 0.996283618913103 1 0.998141809456552 5075 5860 0.92217833216137 0.905304368633257 0.913741350397314 0.996283618913103 1 0.92217833216137 0.905304368633257 0 0 0 0 0.998141809456552 0.913741350397314 0 0 0 FALSE FALSE NA NA NA NA NA ARNT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARNT2 NA NA NA ENSG00000172379 ENSE00003528652 NA NA NA NA NA NA NA 0.959019737658223 TRUE NA ENSE00001165456_BRK ENSE00001165456 BRK 15 80847353 80847522 + 53 75 42 A,G; T,T NA NA NA ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTTTGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGCCACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 NA NA NA NA NA NA ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTTTGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGCCACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG control NA NA NA NA NA 705 171 0.00777845228851975 0.00187616971337277 0.00482731100094626 0.996283618913103 1 0.92217833216137 0.905304368633257 NA NA -0.91439987987285 -0.903428198919884 0.998141809456552 0.913741350397314 NA -0.908914039396367 NA TRUE NA NA NA NA NA NA ARNT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARNT2 NA NA NA ENSG00000172379 ENSE00003528652 NA NA NA NA NA NA NA 0.959019737658223 TRUE NA ENSE00001166447_000 ENSE00001166447 000 4 629624 629793 + 45 90 35 NA NA NA NA NA TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 NA NA NA NA NA NA TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG natural 32 36 0.998572537754483 0.998742713562953 0.998657625658718 2825 1604 0.831633141875779 0.979822672706326 0.905727907291052 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 0 0 0 0 0.998657625658718 0.905727907291052 0 0 0 FALSE FALSE NA NA NA NA NA PDE6B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6B NA NA NA ENSG00000133256 ENSE00001166447 NA NA NA NA NA NA NA 1.62565147164988e-13 FALSE NA ENSE00001166447_001 ENSE00001166447 001 4 629624 629793 + 45 90 35 T C 629637 1 14 TGAAAACTGGAATCTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635847 635848 635848 upstr_intron -32 -0.688888888888889 TGAAAACTGGAATCTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1371 39 1 1 1 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168366858124221 0.0201773272936742 0.998657625658718 0.905727907291052 NA 0.0942720927089478 NA FALSE NA 0.008 0.395 . intron_variant MODIFIER PDE6B HGNC 8786 ENST00000496514 2/21 1 NA TTT T,C 8.237e-06 4:635848 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 intron_variant 0.208154 0.32314 0.09272 0.056701 0.53121999790663 0.486822 1.62565147164988e-13 FALSE 8.13332e-06 ENSE00001166447_002 ENSE00001166447 002 4 629624 629793 + 45 90 35 C A 629644 2 21 TGAAAACTGGAATTTTAATTACTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635854 635855 635855 upstr_intron -25 -0.533333333333333 TGAAAACTGGAATTTTAATTACTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 441 588 0.854156153557584 0.997234482862908 0.925695318210246 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.0225230116818049 0.0174118101565824 0.998657625658718 0.905727907291052 NA 0.0199674109191937 NA FALSE NA 0 -0.343 . intron_variant MODIFIER PDE6B HGNC 8786 ENST00000496514 2/21 rs564637157 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TCC C,A 8.237e-06 4:635855 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 intron_variant 0.192418 0.19755 0.04444 0.056701 0.633183752872136 0.043395 1.62565147164988e-13 FALSE 4.06408e-06 ENSE00001166447_003 ENSE00001166447 003 4 629624 629793 + 45 90 35 C T 629645 3 22 TGAAAACTGGAATTTTAATTCTTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635855 635856 635856 upstr_intron -24 -0.511111111111111 TGAAAACTGGAATTTTAATTCTTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 316 406 0.98757021368133 0.941032912388814 0.964301563035072 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.155937071805551 -0.0387897603175117 0.998657625658718 0.905727907291052 NA 0.0585736557440197 NA FALSE NA 0.002 0.275 . intron_variant MODIFIER PDE6B HGNC 8786 ENST00000496514 2/21 rs532105875 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 2.471e-05 4:635856 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 intron_variant 0.151501 0.17797 0.02924 0.056701 0.627511939467748 0.043395 1.62565147164988e-13 FALSE 1.21897e-05 ENSE00001166447_004 ENSE00001166447 004 4 629624 629793 + 45 90 35 C T 629647 4 24 TGAAAACTGGAATTTTAATTCCTTTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635857 635858 635858 upstr_intron -22 -0.466666666666667 TGAAAACTGGAATTTTAATTCCTTTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1232 1321 0.938292089891787 0.999880259929552 0.96908617491067 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.106658948016009 0.020057587223226 0.998657625658718 0.905727907291052 NA 0.0633582676196173 NA FALSE NA 0 -0.034 . intron_variant MODIFIER PDE6B HGNC 8786 ENST00000496514 2/21 1 NA TCT C,T 2.471e-05 4:635858 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 intron_variant -0.09301 0.14813 0.00651 0.056701 0.638547367239438 0.043395 1.62565147164988e-13 FALSE 2.03127e-05 ENSE00001166447_005 ENSE00001166447 005 4 629624 629793 + 45 90 35 T C 629649 5 26 TGAAAACTGGAATTTTAATTCCTCTCGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635859 635860 635860 upstr_intron -20 -0.422222222222222 TGAAAACTGGAATTTTAATTCCTCTCGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1041 359 1 1 1 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168366858124221 0.0201773272936742 0.998657625658718 0.905727907291052 NA 0.0942720927089478 NA FALSE NA 0 0.793 . intron_variant MODIFIER PDE6B HGNC 8786 ENST00000496514 2/21 1 NA TTG T,C 8.236e-06 4:635860 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 intron_variant -0.296926 0.14121 0.03152 0.056701 0.441964776340893 0.043395 1.62565147164988e-13 FALSE 8.12387e-06 ENSE00001166447_007 ENSE00001166447 007 4 629624 629793 + 45 90 35 T C 629681 7 58 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGCACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635891 635892 635892 exon 13 0.144444444444444 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGCACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1436 296 0.940473006476171 0.967685959076242 0.954079482776207 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.108839864600393 -0.0121367136300834 0.998657625658718 0.905727907291052 NA 0.0483515754851547 NA FALSE NA 1 7.242 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 rs551545798 1 deleterious(0) probably_damaging(1) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 GTA T,C 1.647e-05 4:635892 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 4.753392 0.98845 0.97186 0.700653 0.997629555631441 0 1.62565147164988e-13 FALSE 2.03039e-05 ENSE00001166447_008 ENSE00001166447 008 4 629624 629793 + 45 90 35 A G 629682 8 59 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTGCCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635892 635893 635893 exon 14 0.155555555555556 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTGCCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 591 22 0.998528450098299 1 0.999264225049149 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.16689530822252 0.0201773272936742 0.998657625658718 0.905727907291052 NA 0.0935363177580971 NA FALSE NA 1 8.392 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 1 deleterious(0) probably_damaging(1) NA TAC A,G 8.236e-06 4:635893 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 4.78941 0.98897 0.98338 0.700653 0.997315411968072 0 1.62565147164988e-13 FALSE NA ENSE00001166447_009 ENSE00001166447 009 4 629624 629793 + 45 90 35 C G 629695 9 72 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCGACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635905 635906 635906 exon 27 0.3 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCGACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 758 1059 1 0.995122667524666 0.997561333762333 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168366858124221 0.0152999948183401 0.998657625658718 0.905727907291052 NA 0.0918334264712807 NA FALSE NA 0 -0.389 . synonymous_variant LOW PDE6B HGNC 8786 ENST00000496514 3/22 1 NA CCA C,G 8.236e-06 4:635906 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 synonymous_variant 0.016399 0.81972 0.11127 0.514905 0.345791570285927 0 1.62565147164988e-13 FALSE 0 ENSE00001166447_010 ENSE00001166447 010 4 629624 629793 + 45 90 35 C T 629697 10 74 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCATGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635907 635908 635908 exon 29 0.322222222222222 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCATGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 903 1693 0.998532432726615 0.999790609894433 0.999161521310524 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.166899290850837 0.019967937188107 0.998657625658718 0.905727907291052 NA 0.0934336140194718 NA FALSE NA 0 0.938 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 1 deleterious(0) possibly_damaging(0.77) NA ACG C,T 4.118e-05 4:635908 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 4.609837 0.73965 0.14748 0.514905 0.997389679165299 0 1.62565147164988e-13 FALSE 2.8425e-05 ENSE00001166447_011 ENSE00001166447 011 4 629624 629793 + 45 90 35 G A 629698 11 75 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACATTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635908 635909 635909 exon 30 0.333333333333333 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACATTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 2419 207 0.997621296312041 0.897020483983698 0.94732089014787 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.165988154436263 -0.082802188722628 0.998657625658718 0.905727907291052 NA 0.0415929828568174 NA FALSE NA 0 -4.189 . synonymous_variant LOW PDE6B HGNC 8786 ENST00000496514 3/22 rs200664252 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 CGT G,A 5.765e-05 4:635909 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 synonymous_variant 0.294647 0.15894 0.01361 0.514905 0.53067800042846 0 1.62565147164988e-13 FALSE 0.000174615 ENSE00001166447_013 ENSE00001166447 013 4 629624 629793 + 45 90 35 G A 629710 13 87 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAAATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635920 635921 635921 exon 42 0.466666666666667 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAAATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 436 1352 0.996648814868623 0.944766253391817 0.97070753413022 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.165015672992845 -0.0350564193145093 0.998657625658718 0.905727907291052 NA 0.0649796268391677 NA FALSE NA 1 2.457 . synonymous_variant LOW PDE6B HGNC 8786 ENST00000496514 3/22 rs199674705 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGA G,A 8.236e-06 4:635921 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 synonymous_variant 1.627605 0.97188 0.75844 0.700653 0.589218739120661 0 1.62565147164988e-13 FALSE 4.06088e-06 ENSE00001166447_014 ENSE00001166447 014 4 629624 629793 + 45 90 35 A T 629711 14 88 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGTTCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635921 635922 635922 exon 43 0.477777777777778 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGTTCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1101 1369 0.920602757268122 0.981901686132529 0.951252221700325 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.0889696153923434 0.00207901342620309 0.998657625658718 0.905727907291052 NA 0.0455243144092732 NA FALSE NA 1 3.002 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 1 tolerated(0.7) probably_damaging(0.986) NA GAT A,T 1.647e-05 4:635922 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 3.216977 0.97512 0.84772 0.700653 0.53057936304159 0 1.62565147164988e-13 FALSE 8.12156e-06 ENSE00001166447_015 ENSE00001166447 015 4 629624 629793 + 45 90 35 A G 629715 15 92 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTGTCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635925 635926 635926 exon -44 0.522222222222222 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTGTCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1416 763 0.930372551381128 0.996408562889209 0.963390557135169 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.0987394095053497 0.016585890182883 0.998657625658718 0.905727907291052 NA 0.0576626498441163 NA FALSE NA 1 2.284 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 1 tolerated(0.13) possibly_damaging(0.823) NA TAT A,G 8.236e-06 4:635926 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 4.15261 0.97348 0.87924 0.700653 0.996090671226569 0 1.62565147164988e-13 FALSE 1.21825e-05 ENSE00001166447_016 ENSE00001166447 016 4 629624 629793 + 45 90 35 C A 629729 16 106 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACATCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635939 635940 635940 exon -30 0.677777777777778 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACATCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1198 314 0.999138026643659 0.9994959966971 0.999317011670379 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.16750488476788 0.0196733239907739 0.998657625658718 0.905727907291052 NA 0.0935891043793271 NA FALSE NA 1 3.285 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 rs201584824 1 deleterious(0.04) probably_damaging(0.997) NA CCT C,A 5.765e-05 4:635940 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 6.346115 0.97295 0.80978 0.700653 0.994294004631067 0 1.62565147164988e-13 FALSE 6.09132e-05 ENSE00001166447_017 ENSE00001166447 017 4 629624 629793 + 45 90 35 G A 629741 17 118 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCAAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635951 635952 635952 exon -18 0.811111111111111 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCAAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 568 830 0.993141708716149 1 0.996570854358075 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.161508566840371 0.0201773272936742 0.998657625658718 0.905727907291052 NA 0.0908429470670224 NA FALSE NA 1 8.862 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 rs201593198 1 deleterious(0) probably_damaging(0.998) A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 CGA G,A 6.589e-05 4:635952 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 7.630175 0.99136 0.98329 0.700653 0.999261227725634 0 1.62565147164988e-13 FALSE 6.9054e-05 ENSE00001166447_018 ENSE00001166447 018 4 629624 629793 + 45 90 35 C T 629745 18 122 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGATGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635955 635956 635956 exon -14 0.855555555555556 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGATGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1508 1366 0.998645115677907 0.998679732931771 0.998662424304839 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.167011973802128 0.0188570602254455 0.998657625658718 0.905727907291052 NA 0.0929345170137869 NA FALSE NA 1 7.042 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 1 tolerated(0.14) probably_damaging(0.953) NA ACG C,T 1.647e-05 4:635956 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 5.933388 0.99085 0.97418 0.700653 0.996966702716245 0 1.62565147164988e-13 FALSE 3.24987e-05 ENSE00001166447_019 ENSE00001166447 019 4 629624 629793 + 45 90 35 G A 629746 19 123 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACACGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635956 635957 635957 exon -13 0.866666666666667 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACACGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 98 1335 1 0.885269145120951 0.942634572560476 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168366858124221 -0.0945535275853747 0.998657625658718 0.905727907291052 NA 0.0369066652694233 NA FALSE NA 0 -4.493 NA NA NA PDE6B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:635957 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 synonymous_variant 1.80801 0.27452 0.01388 0.700653 0.855428063099287 0 1.62565147164988e-13 FALSE 0.000121872 ENSE00001166447_022 ENSE00001166447 022 4 629624 629793 + 45 90 35 G A 629748 22 125 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCACCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635958 635959 635959 exon -11 0.888888888888889 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCACCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 2668 822 0.993423288223488 0.997883645202854 0.995653466713171 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.161790146347709 0.0180609724965285 0.998657625658718 0.905727907291052 NA 0.0899255594221189 NA FALSE NA 1 8.862 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 rs369318359 1 deleterious(0) probably_damaging(0.953) NA A:0.0002 A:0 CGC G,A 2.471e-05 4:635959 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 7.33155 0.99114 0.98329 0.700653 0.999531375109702 0 1.62565147164988e-13 FALSE 3.65717e-05 ENSE00001166447_023 ENSE00001166447 023 4 629624 629793 + 45 90 35 C T 629749 23 126 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGTCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635959 635960 635960 exon -10 0.9 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGTCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1189 1728 0.999722776784057 0.999292115939973 0.999507446362015 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168089634908278 0.0194694432336467 0.998657625658718 0.905727907291052 NA 0.0937795390709625 NA FALSE NA 0.998 0.534 . synonymous_variant LOW PDE6B HGNC 8786 ENST00000496514 3/22 rs554692149 1 NA GCC C,T 8.236e-06 4:635960 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 synonymous_variant 1.865608 0.96406 0.59846 0.700653 0.657172450794656 0 1.62565147164988e-13 FALSE 4.0626e-06 ENSE00001166447_024 ENSE00001166447 024 4 629624 629793 + 45 90 35 C T 629750 24 127 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCTGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635960 635961 635961 exon -9 0.911111111111111 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCTGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 649 1572 0.999746082114386 1 0.999873041057193 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168112940238607 0.0201773272936742 0.998657625658718 0.905727907291052 NA 0.0941451337661406 NA FALSE NA 1 3.185 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 1 deleterious(0) probably_damaging(0.931) NA CCG C,T 1.647e-05 4:635961 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 7.028668 0.9669 0.78923 0.700653 0.998878554168522 0 1.62565147164988e-13 FALSE 2.03145e-05 ENSE00001166447_025 ENSE00001166447 025 4 629624 629793 + 45 90 35 G A 629751 25 128 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCACGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635961 635962 635962 exon -8 0.922222222222222 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCACGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 819 584 0.863018256435666 0.927909063104531 0.895463659770098 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.0313851145598874 -0.0519136096017948 0.998657625658718 0.905727907291052 NA -0.0102642475209537 NA FALSE NA 1 3.799 . missense_variant MODERATE PDE6B HGNC 8786 ENST00000496514 3/22 1 deleterious(0) probably_damaging(0.931) NA CGC G,A 4.118e-05 4:635962 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 6.761772 0.97708 0.89029 0.700653 0.999528820775775 0 1.62565147164988e-13 FALSE 5.28198e-05 ENSE00001166447_026 ENSE00001166447 026 4 629624 629793 + 45 90 35 C T 629752 26 129 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGTGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635962 635963 635963 exon -7 0.933333333333333 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGTGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 643 242 0.999761596825591 0.998251164168762 0.999006380497177 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168128454949813 0.0184284914624366 0.998657625658718 0.905727907291052 NA 0.0932784732061246 NA FALSE NA 1 0.886 . synonymous_variant LOW PDE6B HGNC 8786 ENST00000496514 3/22 1 NA GCG C,T 8.236e-06 4:635963 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 synonymous_variant 1.584816 0.94831 0.54869 0.700653 0.76158756136028 0 1.62565147164988e-13 FALSE NA ENSE00001166447_027 ENSE00001166447 027 4 629624 629793 + 45 90 35 G A 629753 27 130 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCAGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635963 635964 635964 exon -6 0.944444444444444 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCAGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 545 187 1 0.961613075171977 0.980806537585989 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168366858124221 -0.0182095975343485 0.998657625658718 0.905727907291052 NA 0.0750786302949364 NA FALSE NA 1 5.747 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:635964 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 missense_variant 4.602635 0.98417 0.91547 0.700653 0.983244305667805 0 1.62565147164988e-13 FALSE 0.000146296 ENSE00001166447_028 ENSE00001166447 028 4 629624 629793 + 45 90 35 G C 629753 28 130 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCCGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635963 635964 635964 exon -6 0.944444444444444 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCCGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 671 224 0.996325564747453 1 0.998162782373726 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.164692422871674 0.0201773272936742 0.998657625658718 0.905727907291052 NA 0.0924348750826742 NA FALSE NA 1 5.747 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6B NA NA NA ENSG00000133256 ENSE00001166447 missense_variant 5.407799 0.98581 0.95816 0.700653 0.99918937737767 0 1.62565147164988e-13 FALSE 4.06379e-06 ENSE00001166447_029 ENSE00001166447 029 4 629624 629793 + 45 90 35 C T 629762 29 139 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTATCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635972 635973 635973 downstr_intron 4 1.11764705882353 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTATCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 882 715 0.987965036628087 1 0.993982518314043 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.156331894752308 0.0201773272936742 0.998657625658718 0.905727907291052 NA 0.088254611022991 NA FALSE NA 0.483 1.773 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:635973 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 splice_region_variant 1.861082 0.96434 0.64613 0.056701 0.878067691331278 0.690066 1.62565147164988e-13 FALSE 4.06471e-06 ENSE00001166447_031 ENSE00001166447 031 4 629624 629793 + 45 90 35 C G 629763 31 140 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACGCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635973 635974 635974 downstr_intron 5 1.14705882352941 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACGCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 269 1204 1 0.994975322094202 0.997487661047101 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168366858124221 0.0151526493878759 0.998657625658718 0.905727907291052 NA 0.0917597537560486 NA FALSE NA 0.001 -0.419 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:635974 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 splice_region_variant 0.451291 0.25553 0.0285 0.056701 0.628282347786781 0.0948668 1.62565147164988e-13 FALSE 8.13081e-06 ENSE00001166447_032 ENSE00001166447 032 4 629624 629793 + 45 90 35 C T 629763 32 140 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACTCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635973 635974 635974 downstr_intron 5 1.14705882352941 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACTCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 589 3895 0.992791199995514 0.997392395187678 0.995091797591596 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.161158058119735 0.0175697224813517 0.998657625658718 0.905727907291052 NA 0.0893638903005435 NA FALSE NA 0.001 -0.419 NA NA NA PDE6B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6B NA NA NA ENSG00000133256 ENSE00001166447 splice_region_variant 0.628442 0.24377 0.02141 0.056701 0.74686746313165 0.0948668 1.62565147164988e-13 FALSE 4.0654e-06 ENSE00001166447_033 ENSE00001166447 033 4 629624 629793 + 45 90 35 C G 629764 33 141 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCGACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635974 635975 635975 downstr_intron 6 1.17647058823529 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCGACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 60 857 1 0.998335473972009 0.999167736986004 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.168366858124221 0.0185128012656827 0.998657625658718 0.905727907291052 NA 0.093439829694952 NA FALSE NA 0 -0.421 . splice_region_variant&intron_variant LOW PDE6B HGNC 8786 ENST00000496514 3/21 1 NA CCA C,G 8.236e-06 4:635975 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 splice_region_variant -0.009261 0.19727 0.03017 0.056701 0.683135463761613 0.0543805 1.62565147164988e-13 FALSE 4.06497e-06 ENSE00001166447_034 ENSE00001166447 034 4 629624 629793 + 45 90 35 C T 629768 34 145 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACATGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 635978 635979 635979 downstr_intron 10 1.29411764705882 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACATGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 2124 1203 0.998298504162792 0.958658483595425 0.978478493879109 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.166665362287013 -0.0211641891109005 0.998657625658718 0.905727907291052 NA 0.0727505865880564 NA FALSE NA 0 -0.897 . intron_variant MODIFIER PDE6B HGNC 8786 ENST00000496514 3/21 rs201100689 1 T:0.0016 T:0 T:0.0029 NA T:0 T:0.005 T:0.001 T:0 T:0.0048 ACG C,T 0.002751 4:635979 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 intron_variant -0.190197 0.10253 0.00288 0.056701 0.81332834624622 0.0469587 1.62565147164988e-13 FALSE 0.00242337 ENSE00001166447_035 ENSE00001166447 035 4 629624 629793 + 45 90 35 G A 629769 35 146 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACACTGAGCACAGCTCTGCCCACGAGG 635834 636004 635979 635980 635980 downstr_intron 11 1.32352941176471 TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACACTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG mutant NA NA NA NA NA 1512 499 0.94642006619689 0.998129981791455 0.972275023994173 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 NA NA 0.114786924321111 0.0183073090851291 0.998657625658718 0.905727907291052 NA 0.0665471167031203 NA FALSE NA 0 0.188 rs111340191 intron_variant MODIFIER PDE6B HGNC 8786 ENST00000496514 3/21 rs111340191 1 A:0.0030 A:0.0113 A:0 NA A:0 A:0 A:0 A:0.0073 A:0 CGC G,A 0.0007001 4:635980 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001166447 intron_variant 0.164362 0.20905 0.00711 0.056701 0.675561492200907 0.0477024 1.62565147164988e-13 FALSE 0.000508548 ENSE00001166447_BRK ENSE00001166447 BRK 4 629624 629793 + 45 90 35 A,G; T,T NA NA NA TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCTTGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGCCACCCACACGCTGAGCACAGCTCTGCCCACGAGG 635834 636004 NA NA NA NA NA NA TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCTTGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGCCACCCACACGCTGAGCACAGCTCTGCCCACGAGG TGAAAACTGGAATTTTAATTCCTCTTGTTGCAATTCCTGTTTCAGGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTGAAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTACCCACACGCTGAGCACAGCTCTGCCCACGAGG control 17 31 0.85 0.85 0.85 NA NA NA NA NA 0.998572537754483 0.998742713562953 0.831633141875779 0.979822672706326 -0.148572537754483 -0.148742713562953 NA NA 0.998657625658718 0.905727907291052 -0.148657625658718 NA NA NA FALSE NA NA NA NA NA PDE6B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6B NA NA NA ENSG00000133256 ENSE00001166447 NA NA NA NA NA NA NA 1.62565147164988e-13 FALSE NA ENSE00001167737_000 ENSE00001167737 000 11 60668725 60668894 - 42 75 53 NA NA NA NA NA GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG 60901252 60901422 NA NA NA NA NA NA GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG natural NA NA NA NA NA 531 627 0.998988098341997 0.992491557168189 0.995739827755093 NA NA 0.998988098341997 0.992491557168189 NA NA 0 0 NA 0.995739827755093 NA 0 NA FALSE NA NA NA NA NA NA PRPF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRPF19 NA NA NA ENSG00000110107 ENSE00001167737 NA NA NA NA NA NA NA 0.998566695864226 TRUE NA ENSE00001167737_005 ENSE00001167737 005 11 60668725 60668894 - 42 75 53 C T 60668769 1371 126 GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACATGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG 60901252 60901422 60901296 60901297 60901297 exon -3 0.973333333333333 GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACATGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG mutant NA NA NA NA NA 149 124 1 1 1 NA NA 0.998988098341997 0.992491557168189 NA NA 0.00101190165800324 0.00750844283181085 NA 0.995739827755093 NA 0.00426017224490705 NA FALSE NA 1 7.258 . downstream_gene_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 1 NA ACG C,T 2.471e-05 11:60901297 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167737 missense_variant 5.270274 0.98194 0.97948 0.706548 0.997579737924065 0 0.998566695864226 TRUE 2.84426e-05 ENSE00001167737_009 ENSE00001167737 009 11 60668725 60668894 - 42 75 53 A G 60668790 1375 105 GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAACACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG 60901252 60901422 60901317 60901318 60901318 exon -24 0.693333333333333 GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAACACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG mutant NA NA NA NA NA 92 32 1 0.95 0.975 NA NA 0.998988098341997 0.992491557168189 NA NA 0.00101190165800324 -0.0424915571681892 NA 0.995739827755093 NA -0.020739827755093 NA FALSE NA 1 8.686 . downstream_gene_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 1 NA TAT A,G 1.647e-05 11:60901318 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167737 missense_variant 5.215231 0.97443 0.98109 0.706548 0.99871196492229 0 0.998566695864226 TRUE 8.12315e-06 ENSE00001167737_011 ENSE00001167737 011 11 60668725 60668894 - 42 75 53 C T 60668800 1377 95 GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAACTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG 60901252 60901422 60901327 60901328 60901328 exon -34 0.56 GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAACTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG mutant NA NA NA NA NA 321 75 1 1 1 NA NA 0.998988098341997 0.992491557168189 NA NA 0.00101190165800324 0.00750844283181085 NA 0.995739827755093 NA 0.00426017224490705 NA FALSE NA 1 1.422 . downstream_gene_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 1 NA GCT C,T 8.236e-06 11:60901328 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167737 synonymous_variant 1.647529 0.93618 0.83572 0.706548 0.589612240972482 0 0.998566695864226 TRUE 4.06141e-06 ENSE00001167737_018 ENSE00001167737 018 11 60668725 60668894 - 42 75 53 A C 60668876 1384 19 GCTGAATCTTGGATTCATGGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG 60901252 60901422 60901403 60901404 60901404 upstr_intron -35 -0.641509433962264 GCTGAATCTTGGATTCATGGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG mutant NA NA NA NA NA 177 627 1 0.993791100641988 0.996895550320994 NA NA 0.998988098341997 0.992491557168189 NA NA 0.00101190165800324 0.00129954347379901 NA 0.995739827755093 NA 0.00115572256590113 NA FALSE NA 0 -0.502 . downstream_gene_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 1 NA CAA A,C 2.471e-05 11:60901404 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167737 intron_variant 0.021716 0.27253 0.37263 0.093477 0.56422883931908 0.127298 0.998566695864226 TRUE 1.62866e-05 ENSE00001167737_019 ENSE00001167737 019 11 60668725 60668894 - 42 75 53 A G 60668877 1385 18 GCTGAATCTTGGATTCACTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG 60901252 60901422 60901404 60901405 60901405 upstr_intron -36 -0.660377358490566 GCTGAATCTTGGATTCACTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG mutant NA NA NA NA NA 133 54 0.816830083637972 1 0.908415041818986 NA NA 0.998988098341997 0.992491557168189 NA NA -0.182158014704025 0.00750844283181085 NA 0.995739827755093 NA -0.087324785936107 NA FALSE NA 0 -0.653 . downstream_gene_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 1 NA AAT A,G 8.236e-06 11:60901405 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167737 intron_variant -0.019327 0.18093 0.11107 0.093477 0.477531753589449 0.127298 0.998566695864226 TRUE 4.07123e-06 ENSE00001167737_020 ENSE00001167737 020 11 60668725 60668894 - 42 75 53 G A 60668879 1386 16 GCTGAATCTTGGATTTATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG 60901252 60901422 60901406 60901407 60901407 upstr_intron -38 -0.69811320754717 GCTGAATCTTGGATTTATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG GCTGAATCTTGGATTCATTGCTGCTCTTCTTTGGGGGCTTTTCATTTTCTCAGAGAGGGAAGACTGTGCCTGAGGAGCTGGTGAAGCCAGAAGAGCTCAGCAAATACCGGCAGGTGGCATCCCACGTGGTGAGTGTCTGGGTCTCCACTGTCTTGGAGACAGCCCTCCCG mutant NA NA NA NA NA 31 48 1 0.980412966727802 0.990206483363901 NA NA 0.998988098341997 0.992491557168189 NA NA 0.00101190165800324 -0.0120785904403872 NA 0.995739827755093 NA -0.00553334439119196 NA FALSE NA 0.244 0.456 . downstream_gene_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 1 NA TGA G,A 1.647e-05 11:60901407 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167737 intron_variant 0.198382 0.27034 0.11204 0.093477 0.572448640523149 0.127298 0.998566695864226 TRUE 1.629e-05 ENSE00001167760_000 ENSE00001167760 000 11 60669827 60669996 - 48 63 59 NA NA NA NA NA TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 NA NA NA NA NA NA TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT natural 14 17 0.990586189745656 0.959112165858856 0.974849177802256 1910 5020 0.967777036271995 0.977807633312702 0.972792334792349 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 0 0 0 0 0.974849177802256 0.972792334792349 0 0 0 FALSE FALSE NA NA NA NA NA PRPF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRPF19 NA NA NA ENSG00000110107 ENSE00001167760 NA NA NA NA NA NA NA 0.998566695864226 TRUE NA ENSE00001167760_001 ENSE00001167760 001 11 60669827 60669996 - 48 63 59 C T 60669838 1406 159 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGACCCTTACTTTT 60902354 60902524 60902365 60902366 60902366 downstr_intron 37 1.78723404255319 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGACCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 2174 553 0.99977262107855 0.997978945830323 0.998875783454437 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0319955848065557 0.0201713125176205 0.974849177802256 0.972792334792349 NA 0.0260834486620881 NA FALSE NA 0 -0.037 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 7/7 1 NA GCC C,T 8.236e-06 11:60902366 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 1.341044 0.1969 0.11733 0.256867 0.759570980431134 0.0512125 0.998566695864226 TRUE 8.14963e-06 ENSE00001167760_002 ENSE00001167760 002 11 60669827 60669996 - 48 63 59 C A 60669843 1407 154 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTTATGGGCCCTTACTTTT 60902354 60902524 60902370 60902371 60902371 downstr_intron 32 1.68085106382979 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTTATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 1806 315 0.999084935616906 0.998888906892753 0.998986921254829 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0313078993449111 0.0210812735800506 0.974849177802256 0.972792334792349 NA 0.0261945864624809 NA FALSE NA 0 -1.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:60902371 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 1.923331 0.21398 0.09874 0.256867 0.874320588882941 0.140038 0.998566695864226 TRUE 8.54409e-05 ENSE00001167760_005 ENSE00001167760 005 11 60669827 60669996 - 48 63 59 C A 60669848 1410 149 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGATTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902375 60902376 60902376 downstr_intron 27 1.57446808510638 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGATTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 101 259 1 1 1 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0322229637280053 0.0221923666872975 0.974849177802256 0.972792334792349 NA 0.0272076652076514 NA FALSE NA 0 -1.094 NA NA NA PRPF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:60902376 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 1.583529 0.20295 0.14963 0.256867 0.761148091352757 0.140038 0.998566695864226 TRUE 4.06497e-06 ENSE00001167760_006 ENSE00001167760 006 11 60669827 60669996 - 48 63 59 G T 60669857 1411 140 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACATGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902384 60902385 60902385 downstr_intron 18 1.38297872340426 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACATGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 344 210 0.945475528181226 1 0.972737764090613 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA -0.0223015080907683 0.0221923666872975 0.974849177802256 0.972792334792349 NA -5.4570701735368e-05 NA FALSE NA 0 -0.682 rs183909262 intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 7/7 rs183909262 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 AGG G,T 9.884e-05 11:60902385 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 1.467535 0.16115 0.07175 0.256867 0.764611023991726 0.140038 0.998566695864226 TRUE 6.09385e-05 ENSE00001167760_008 ENSE00001167760 008 11 60669827 60669996 - 48 63 59 A T 60669869 1413 128 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGACCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902396 60902397 60902397 downstr_intron 6 1.12765957446809 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGACCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 136 44 1 1 1 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0322229637280053 0.0221923666872975 0.974849177802256 0.972792334792349 NA 0.0272076652076514 NA FALSE NA 0.03 0.312 . splice_region_variant&intron_variant LOW PRPF19 HGNC 17896 ENST00000546152 7/7 1 NA GAC A,T 8.236e-06 11:60902397 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 splice_region_variant 1.561725 0.38121 0.1144 0.256867 0.9208981873809 0.153889 0.998566695864226 TRUE 4.06141e-06 ENSE00001167760_009 ENSE00001167760 009 11 60669827 60669996 - 48 63 59 G C 60669880 1414 117 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTGAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902407 60902408 60902408 exon -6 0.920634920634921 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTGAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 418 177 0.991472221622246 0.987979322778572 0.989725772200409 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0236951853502512 0.0101716894658692 0.974849177802256 0.972792334792349 NA 0.0169334374080602 NA FALSE NA 1 9.331 . missense_variant MODERATE PRPF19 HGNC 17896 ENST00000546152 7/8 1 tolerated(0.67) benign(0.002) NA TGA G,C 8.236e-06 11:60902408 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 missense_variant 1.08961 0.9729 0.98667 0.706548 0.878448739585776 0 0.998566695864226 TRUE 4.06118e-06 ENSE00001167760_011 ENSE00001167760 011 11 60669827 60669996 - 48 63 59 G C 60669893 1416 104 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACGCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902420 60902421 60902421 exon -19 0.714285714285714 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACGCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 2009 181 0.998460460986572 0.998700787821303 0.998580624403937 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0306834247145771 0.0208931545086003 0.974849177802256 0.972792334792349 NA 0.0257882896115887 NA FALSE NA 0.002 -1.255 NA NA NA PRPF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:60902421 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 synonymous_variant 0.720406 0.18642 0.22035 0.706548 0.729550900467291 0 0.998566695864226 TRUE 4.06078e-06 ENSE00001167760_012 ENSE00001167760 012 11 60669827 60669996 - 48 63 59 T C 60669922 1417 75 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAGTGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902449 60902450 60902450 exon 16 0.253968253968254 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAGTGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 251 139 0.97878222821021 1 0.989391114105105 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0110051919382153 0.0221923666872975 0.974849177802256 0.972792334792349 NA 0.0165987793127564 NA FALSE NA 1 5.844 . missense_variant MODERATE PRPF19 HGNC 17896 ENST00000546152 7/8 1 tolerated(0.34) benign(0.001) NA ATT T,C 4.942e-05 11:60902450 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 missense_variant 1.907552 0.96492 0.9662 0.706548 0.956142002245526 0 0.998566695864226 TRUE 6.09137e-05 ENSE00001167760_014 ENSE00001167760 014 11 60669827 60669996 - 48 63 59 G A 60669933 1419 64 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGTGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902460 60902461 60902461 exon 5 0.0793650793650794 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGTGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 1232 125 0.988872568526278 0.995941281110753 0.992406924818515 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.021095532254283 0.0181336477980508 0.974849177802256 0.972792334792349 NA 0.0196145900261669 NA FALSE NA 1 6.933 . missense_variant MODERATE PRPF19 HGNC 17896 ENST00000546152 7/8 rs201476413 1 tolerated(0.19) benign(0.011) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGC G,A 3.295e-05 11:60902461 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 missense_variant 3.783111 0.97188 0.97615 0.706548 0.995275102888937 0 0.998566695864226 TRUE 3.24907e-05 ENSE00001167760_015 ENSE00001167760 015 11 60669827 60669996 - 48 63 59 C A 60669936 1420 61 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGTTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902463 60902464 60902464 exon 2 0.0317460317460317 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGTTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 81 806 1 0.988421564759006 0.994210782379503 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0322229637280053 0.0106139314463035 0.974849177802256 0.972792334792349 NA 0.0214184475871544 NA FALSE NA 1 7.377 . missense_variant&splice_region_variant MODERATE PRPF19 HGNC 17896 ENST00000546152 7/8 1 tolerated(0.24) benign(0.005) NA ACC C,A 8.236e-06 11:60902464 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 missense_variant 3.404606 0.97222 0.98098 0.706548 0.965745602819467 0 0.998566695864226 TRUE 8.12176e-06 ENSE00001167760_016 ENSE00001167760 016 11 60669827 60669996 - 48 63 59 A G 60669942 1421 55 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCCTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902469 60902470 60902470 upstr_intron -5 -0.0677966101694915 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCCTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 94 225 0.988995667696967 1 0.994497833848484 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0212186314249725 0.0221923666872975 0.974849177802256 0.972792334792349 NA 0.021705499056135 NA FALSE NA 0 -0.062 . splice_region_variant&intron_variant LOW PRPF19 HGNC 17896 ENST00000546152 6/7 1 NA AAG A,G 0.0002059 11:60902470 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 splice_region_variant 0.52855 0.22841 0.18283 0.069865 0.811883322614425 0.463799 0.998566695864226 TRUE 0.000320823 ENSE00001167760_017 ENSE00001167760 017 11 60669827 60669996 - 48 63 59 G A 60669945 1422 52 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTTTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902472 60902473 60902473 upstr_intron -8 -0.11864406779661 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTTTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 687 524 0.997028418069339 0.928785137766955 0.962906777918147 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0292513817973442 -0.0490224955457476 0.974849177802256 0.972792334792349 NA -0.00988555687420167 NA FALSE NA 0 -0.336 . splice_region_variant&intron_variant LOW PRPF19 HGNC 17896 ENST00000546152 6/7 1 NA AGA G,A 8.236e-06 11:60902473 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 splice_region_variant 0.47866 0.22318 0.25647 0.069865 0.721167196780731 0.369736 0.998566695864226 TRUE 1.21831e-05 ENSE00001167760_018 ENSE00001167760 018 11 60669827 60669996 - 48 63 59 T C 60669954 1423 43 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCGCCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902481 60902482 60902482 upstr_intron -17 -0.271186440677966 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCGCCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 639 36 1 0.859307167572406 0.929653583786203 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0322229637280053 -0.118500465740296 0.974849177802256 0.972792334792349 NA -0.0431387510061456 NA FALSE NA 0 -2.352 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 6/7 rs200606452 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 GTG T,C 5.765e-05 11:60902482 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 0.46887 0.2017 0.12851 0.069865 0.784194046606046 0.0512896 0.998566695864226 TRUE 7.31065e-05 ENSE00001167760_019 ENSE00001167760 019 11 60669827 60669996 - 48 63 59 A G 60669964 1424 33 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCCCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902491 60902492 60902492 upstr_intron -27 -0.440677966101695 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCCCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 1235 38 0.996686610477685 1 0.998343305238842 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0289095742056901 0.0221923666872975 0.974849177802256 0.972792334792349 NA 0.0255509704464938 NA FALSE NA 0 -1.808 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 6/7 rs372162951 1 NA GAG G,G 1.647e-05 11:60902492 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 0.051385 0.17388 0.10254 0.069865 0.680925510135581 0.0512896 0.998566695864226 TRUE 3.65512e-05 ENSE00001167760_020 ENSE00001167760 020 11 60669827 60669996 - 48 63 59 G A 60669965 1425 32 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCTTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902492 60902493 60902493 upstr_intron -28 -0.457627118644068 TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCTTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 364 196 0.992758770608528 0.977799157382864 0.985278963995696 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0249817343365332 -8.4759298386583e-06 0.974849177802256 0.972792334792349 NA 0.0124866292033473 NA FALSE NA 0 -0.359 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 6/7 rs533523305 1 A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 AGG G,A 0.00014 11:60902493 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 0.225358 0.20058 0.18897 0.069865 0.73664380005453 0.0512896 0.998566695864226 TRUE 0.000166512 ENSE00001167760_021 ENSE00001167760 021 11 60669827 60669996 - 48 63 59 G A 60669971 1426 26 TCCTTATGCAGGTGTCTTTGGTGCTTTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902498 60902499 60902499 upstr_intron -34 -0.559322033898305 TCCTTATGCAGGTGTCTTTGGTGCTTTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 67 386 1 0.996678625584538 0.998339312792269 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0322229637280053 0.0188709922718358 0.974849177802256 0.972792334792349 NA 0.0255469779999205 NA FALSE NA 0 -0.139 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 6/7 1 NA AGA G,A 8.236e-06 11:60902499 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 0.065591 0.23815 0.33639 0.062308 0.421918642704564 0.0512896 0.998566695864226 TRUE 4.06118e-06 ENSE00001167760_022 ENSE00001167760 022 11 60669827 60669996 - 48 63 59 C G 60669985 1427 12 TCCTTATGCAGCTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT 60902354 60902524 60902512 60902513 60902513 upstr_intron -48 -0.796610169491525 TCCTTATGCAGCTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT TCCTTATGCAGGTGTCTTTGGTGCTCTGTGCCTCTCACCCTCACCTTTCTTCTCTTCAGGGTGCGGGTGAGCCAATGGATTTGGGTGAGCTGGTGGGAATGACCCCAGAGATTATTCAGAAGGTAAGTCCTGCTCTCACCTGGTGGGAGTGCTGATGGGCCCTTACTTTT mutant NA NA NA NA NA 536 25 0.999229672614628 1 0.999614836307314 0.990586189745656 0.959112165858856 0.967777036271995 0.977807633312702 NA NA 0.0314526363426331 0.0221923666872975 0.974849177802256 0.972792334792349 NA 0.0268225015149653 NA FALSE NA 0 -0.648 NA NA NA PRPF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:60902513 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00001167760 intron_variant 0.048777 0.24411 0.3376 0.062308 0.534511399735131 0.0512896 0.998566695864226 TRUE 0.00139323 ENSE00001167789_000 ENSE00001167789 000 1 11174828 11174997 - 42 75 53 NA NA NA NA NA CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 NA NA NA NA NA NA CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG natural 45 61 0.993041754183223 0.998071834149589 0.995556794166406 3229 3294 0.998018306845953 0.849604848281389 0.923811577563671 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 0 0 0 0 0.995556794166406 0.923811577563671 0 0 0 FALSE FALSE NA NA NA NA NA MTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTOR NA NA NA ENSG00000198793 ENSE00003629136 NA NA NA NA NA NA NA 0.999999999999676 TRUE NA ENSE00001167789_001 ENSE00001167789 001 1 11174828 11174997 - 42 75 53 T C 11174838 273 160 CTGATCCCATCTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114780 11114781 11114781 downstr_intron 32 1.78048780487805 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAGATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant 12 17 1 1 1 360 1233 1 0.965348766688823 0.982674383344411 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 0.00695824581677706 0.00192816585041111 0.0019816931540465 0.115743918407434 0.995556794166406 0.923811577563671 0.00444320583359409 0.0588628057807402 0.0544195999471461 FALSE FALSE 0 -0.586 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 52/57 rs375378968 1 NA C:0.0005 C:0.0001 TTT T,C 0.0003954 1:11114781 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 intron_variant 0.263928 0.17274 0.04377 0.295142 0.427609866257463 0.0564085 0.999999999999676 TRUE 0.000321149 ENSE00001167789_004 ENSE00001167789 004 1 11174828 11174997 - 42 75 53 C T 11174856 276 142 CTGATCCCATTTGGAAGCAGCTCGTTCCTGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114798 11114799 11114799 downstr_intron 14 1.34146341463415 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCAGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 43 27 1 1 1 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.0019816931540465 0.150395151718611 0.995556794166406 0.923811577563671 NA 0.0761884224363289 NA FALSE NA 0 -0.272 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 52/57 rs373599853 1 NA T:0 T:0.0001 CCG C,T 2.471e-05 1:11114799 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 intron_variant 0.40891 0.32795 0.12315 0.295142 0.453131138004944 0.656343 0.999999999999676 TRUE 3.65604e-05 ENSE00001167789_005 ENSE00001167789 005 1 11174828 11174997 - 42 75 53 T C 11174859 277 139 CTGATCCCATTTGGAAGCAGCTCGTTCCCGACATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114801 11114802 11114802 downstr_intron 11 1.26829268292683 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATGTCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 260 1727 1 0.998820509840047 0.999410254920024 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.0019816931540465 0.149215661558658 0.995556794166406 0.923811577563671 NA 0.0755986773563525 NA FALSE NA 0 -0.983 rs75573431 intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 52/57 rs75573431 1 C:0.0078 C:0.0287 C:0.0014 NA C:0 C:0 C:0 C:0.0272 C:0.0002 ATA T,C 0.002397 1:11114802 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 intron_variant 0.247556 0.20281 0.05686 0.295142 0.423424725819486 0.079238 0.999999999999676 TRUE 0.00186428 ENSE00001167789_006 ENSE00001167789 006 1 11174828 11174997 - 42 75 53 C A 11174862 278 136 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATACACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114804 11114805 11114805 downstr_intron 8 1.19512195121951 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGTATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 47 557 0.975835772569153 0.999647457441613 0.987741615005383 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA -0.0221825342768005 0.150042609160224 0.995556794166406 0.923811577563671 NA 0.0639300374417117 NA FALSE NA 0 0.722 . splice_region_variant&intron_variant LOW MTOR HGNC 3942 ENST00000361445 52/57 rs368963147 1 NA A:0 A:0.0001 TCC C,A 8.236e-06 1:11114805 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 splice_region_variant 0.741847 0.31679 0.03125 0.295142 0.506699909318832 0.124964 0.999999999999676 TRUE 8.12328e-06 ENSE00001167789_007 ENSE00001167789 007 1 11174828 11174997 - 42 75 53 C T 11174870 279 128 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACTTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114812 11114813 11114813 exon -1 1 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAAGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 18 18 1 1 1 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.0019816931540465 0.150395151718611 0.995556794166406 0.923811577563671 NA 0.0761884224363289 NA FALSE NA 1 5.657 rs146446463 splice_region_variant&synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 52/58 rs146446463 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0002 T:0 CCT C,T 8.236e-06 1:11114813 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 splice_region_variant 1.098352 0.99158 0.98554 0.706548 0.70951732947051 0 0.999999999999676 TRUE 4.06121e-06 ENSE00001167789_008 ENSE00001167789 008 1 11174828 11174997 - 42 75 53 A G 11174876 280 122 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATGGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114818 11114819 11114819 exon -7 0.92 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCCATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 393 846 1 0.995538989283552 0.997769494641776 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.0019816931540465 0.145934141002163 0.995556794166406 0.923811577563671 NA 0.0739579170781047 NA FALSE NA 0.983 0.251 rs143035002 synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 52/58 rs143035002 1 NA G:0.0016 G:0 TAG A,G 0.0001318 1:11114819 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 synonymous_variant -0.162372 0.96484 0.83801 0.706548 0.553276644408731 0 0.999999999999676 TRUE 0.000138089 ENSE00001167789_010 ENSE00001167789 010 1 11174828 11174997 - 42 75 53 T C 11174880 282 118 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCACTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114822 11114823 11114823 exon -11 0.866666666666667 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAGTGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 90 77 1 1 1 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.0019816931540465 0.150395151718611 0.995556794166406 0.923811577563671 NA 0.0761884224363289 NA FALSE NA 1 7.572 NA NA NA MTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11114823 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 missense_variant 3.985325 0.9946 0.99295 0.706548 0.994806714170624 0 0.999999999999676 TRUE 4.06138e-06 ENSE00001167789_011 ENSE00001167789 011 1 11174828 11174997 - 42 75 53 A T 11174909 283 89 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGTATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114851 11114852 11114852 exon 36 0.48 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATACCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 185 651 1 1 1 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.0019816931540465 0.150395151718611 0.995556794166406 0.923811577563671 NA 0.0761884224363289 NA FALSE NA 1 2.709 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 52/58 1 NA GAA A,T 4.118e-05 1:11114852 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 synonymous_variant 0.795488 0.98806 0.97349 0.706548 0.753578441628391 0 0.999999999999676 TRUE 3.65503e-05 ENSE00001167789_012 ENSE00001167789 012 1 11174828 11174997 - 42 75 53 A G 11174921 284 77 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGGAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114863 11114864 11114864 exon 24 0.32 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTCCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 671 206 0.999076378443513 1 0.999538189221757 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.00105807159755966 0.150395151718611 0.995556794166406 0.923811577563671 NA 0.0757266116580855 NA FALSE NA 1 2.32 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 52/58 1 NA GAA A,G 8.237e-06 1:11114864 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 synonymous_variant 0.914018 0.97355 0.40859 0.706548 0.674050842067652 0 0.999999999999676 TRUE 4.06111e-06 ENSE00001167789_013 ENSE00001167789 013 1 11174828 11174997 - 42 75 53 C T 11174927 285 71 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTTTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114869 11114870 11114870 exon 18 0.24 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAAAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 383 530 1 0.999701482942008 0.999850741471004 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.0019816931540465 0.15009663466062 0.995556794166406 0.923811577563671 NA 0.076039163907333 NA FALSE NA 0.997 0.479 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 52/58 1 NA TCT C,T 8.237e-06 1:11114870 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 synonymous_variant 1.904206 0.97048 0.82438 0.706548 0.561243777351119 0 0.999999999999676 TRUE NA ENSE00001167789_014 ENSE00001167789 014 1 11174828 11174997 - 42 75 53 G A 11174961 286 37 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATAGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114903 11114904 11114904 upstr_intron -17 -0.30188679245283 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCTATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 141 373 0.989315385616677 1 0.994657692808339 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA -0.00870292122927641 0.150395151718611 0.995556794166406 0.923811577563671 NA 0.0708461152446674 NA FALSE NA 0 1.086 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 51/57 rs200466900 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0003 TGG G,A 0.0001647 1:11114904 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 intron_variant 0.2183 0.19593 0.0622 0.099367 0.439905887028306 0.0665878 0.999999999999676 TRUE 0.000121895 ENSE00001167789_015 ENSE00001167789 015 1 11174828 11174997 - 42 75 53 G C 11174962 287 36 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGCGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114904 11114905 11114905 upstr_intron -18 -0.320754716981132 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCGCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant 26 35 1 1 1 231 1309 1 0.996945273737672 0.998472636868836 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 0.00695824581677706 0.00192816585041111 0.0019816931540465 0.147340425456283 0.995556794166406 0.923811577563671 0.00444320583359409 0.074661059305165 0.0702178534715709 FALSE FALSE 0 -0.027 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 51/57 1 NA GGG G,C 8.236e-06 1:11114905 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 intron_variant -0.155381 0.27115 0.29125 0.099367 0.605378694254674 0.0665878 0.999999999999676 TRUE 1.21878e-05 ENSE00001167789_016 ENSE00001167789 016 1 11174828 11174997 - 42 75 53 G A 11174963 288 35 CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGAAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 11114905 11114906 11114906 upstr_intron -19 -0.339622641509434 CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTTCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG mutant NA NA NA NA NA 44 234 1 1 1 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 NA NA 0.0019816931540465 0.150395151718611 0.995556794166406 0.923811577563671 NA 0.0761884224363289 NA FALSE NA 0 -1.457 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 51/57 rs550169577 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGA G,A 8.236e-06 1:11114906 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00003629136 intron_variant 0.033247 0.11843 0.00516 0.099367 0.439129659930639 0.0665878 0.999999999999676 TRUE 4.06253e-06 ENSE00001167789_BRK ENSE00001167789 BRK 1 11174828 11174997 - 42 75 53 A,G; T,T NA NA NA CTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCGGCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACAAACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGG 11114770 11114940 NA NA NA NA NA NA CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTTTGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGCCGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG CCAGGTAAAGAAAATAAACATTGATTTGGCTTTTCCCATTTATTATTCTGTAGGTTGCTATGACCCGAGAGAAGTTTCCAGAGAAGATTCCATTTAGACTAACAAGAATGTTGACCAATGCTATGGAGGTGAGTGGATATCGGGAACGAGCTGCTTCCAAATGGGATCAG control 25 76 0 0 0 981 137 0.000390075806826957 0.00234383794241578 0.00136695687462137 0.993041754183223 0.998071834149589 0.998018306845953 0.849604848281389 -0.993041754183223 -0.998071834149589 -0.997628231039127 -0.847261010338973 0.995556794166406 0.923811577563671 -0.995556794166406 -0.92244462068905 0.0731121734773561 TRUE TRUE NA NA NA NA NA MTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTOR NA NA NA ENSG00000198793 ENSE00003629136 NA NA NA NA NA NA NA 0.999999999999676 TRUE NA ENSE00001167858_000 ENSE00001167858 000 1 11188481 11188650 - 30 99 41 NA NA NA NA NA CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC 11128423 11128593 NA NA NA NA NA NA CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC natural 22 11 0.999193815245069 0.999496144876102 0.999344980060586 1407 1337 0.993544631903021 0.955272052517308 0.974408342210165 0.999193815245069 0.999496144876102 0.993544631903021 0.955272052517308 0 0 0 0 0.999344980060586 0.974408342210165 0 0 0 FALSE FALSE NA NA NA NA NA MTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTOR NA NA NA ENSG00000198793 ENSE00001167858 NA NA NA NA NA NA NA 0.999999999999676 TRUE NA ENSE00001167858_003 ENSE00001167858 003 1 11188481 11188650 - 30 99 41 C A 11188506 291 145 CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATTTGGAGACTCTGGGCAGTTTCTCATC 11128423 11128593 11128448 11128449 11128449 downstr_intron 5 1.17241379310345 CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATTTGGAGACTCTGGGCAGTTTCTCATC CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC mutant 92 257 0.85 0.85 0.85 224 1754 0.971313296767584 0.945921512561239 0.958617404664411 0.999193815245069 0.999496144876102 0.993544631903021 0.955272052517308 -0.149193815245069 -0.149496144876102 -0.0222313351354372 -0.00935053995606949 0.999344980060586 0.974408342210165 -0.149344980060586 -0.0157909375457533 0.133554042514832 FALSE FALSE 0.712 4.45 . splice_region_variant&intron_variant LOW MTOR HGNC 3942 ENST00000361445 42/57 1 NA ACA C,A 8.236e-06 1:11128449 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00001167858 splice_region_variant 0.659415 0.34047 0.86918 0.156188 0.456413902841678 0.351139 0.999999999999676 TRUE 4.06111e-06 ENSE00001167858_007 ENSE00001167858 007 1 11188481 11188650 - 30 99 41 G A 11188538 295 113 CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTTACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC 11128423 11128593 11128480 11128481 11128481 exon -28 0.727272727272727 CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTTACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC mutant NA NA NA NA NA 36 127 1 1 1 0.999193815245069 0.999496144876102 0.993544631903021 0.955272052517308 NA NA 0.00645536809697866 0.0447279474826917 0.999344980060586 0.974408342210165 NA 0.0255916577898352 NA FALSE NA 1 1.809 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 42/58 1 NA TGA G,A 8.236e-06 1:11128481 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00001167858 synonymous_variant 1.439281 0.98299 0.9328 0.706548 0.724584705944048 0 0.999999999999676 TRUE 4.06058e-06 ENSE00001167858_009 ENSE00001167858 009 1 11188481 11188650 - 30 99 41 C T 11188577 297 74 CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACACCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC 11128423 11128593 11128519 11128520 11128520 exon 33 0.333333333333333 CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACACCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC mutant NA NA NA NA NA 308 186 1 0.999177351555531 0.999588675777766 0.999193815245069 0.999496144876102 0.993544631903021 0.955272052517308 NA NA 0.00645536809697866 0.0439052990382229 0.999344980060586 0.974408342210165 NA 0.0251803335676008 NA FALSE NA 0 -5.903 . synonymous_variant LOW MTOR HGNC 3942 ENST00000361445 42/58 rs578148544 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C,T 9.884e-05 1:11128520 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00001167858 synonymous_variant 1.989538 0.07863 0.02657 0.706548 0.645773719356704 0 0.999999999999676 TRUE 0.000101516 ENSE00001167858_010 ENSE00001167858 010 1 11188481 11188650 - 30 99 41 C T 11188609 298 42 CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGATTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC 11128423 11128593 11128551 11128552 11128552 exon 1 0.0101010101010101 CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGATTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC mutant NA NA NA NA NA 201 17 1 1 1 0.999193815245069 0.999496144876102 0.993544631903021 0.955272052517308 NA NA 0.00645536809697866 0.0447279474826917 0.999344980060586 0.974408342210165 NA 0.0255916577898352 NA FALSE NA 1 7.455 . missense_variant&splice_region_variant MODERATE MTOR HGNC 3942 ENST00000361445 42/58 1 deleterious(0) probably_damaging(0.97) NA ACC C,T 8.236e-06 1:11128552 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00001167858 missense_variant 6.988361 0.99512 0.99195 0.706548 0.99918034657227 0 0.999999999999676 TRUE 4.06118e-06 ENSE00001167858_013 ENSE00001167858 013 1 11188481 11188650 - 30 99 41 C T 11188628 301 23 CAAGTCTCATATGCTACATACTATGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC 11128423 11128593 11128570 11128571 11128571 upstr_intron -19 -0.439024390243902 CAAGTCTCATATGCTACATACTATGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC mutant NA NA NA NA NA 341 465 0.994022472629502 1 0.997011236314751 0.999193815245069 0.999496144876102 0.993544631903021 0.955272052517308 NA NA 0.000477840726480605 0.0447279474826917 0.999344980060586 0.974408342210165 NA 0.0226028941045862 NA FALSE NA 0 -0.507 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 41/57 rs374670621 1 T:0.0014 T:0 T:0 NA T:0 T:0 T:0.0072 T:0.0002 T:0 ACA C,T 0.001038 1:11128571 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00001167858 intron_variant 0.997323 0.42958 0.10596 0.099367 0.6577308970091 0.166152 0.999999999999676 TRUE 0.000926543 ENSE00001167858_018 ENSE00001167858 018 1 11188481 11188650 - 30 99 41 T C 11188640 306 11 CAAGTCTCATGTGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC 11128423 11128593 11128582 11128583 11128583 upstr_intron -31 -0.731707317073171 CAAGTCTCATGTGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC mutant NA NA NA NA NA 113 65 1 1 1 0.999193815245069 0.999496144876102 0.993544631903021 0.955272052517308 NA NA 0.00645536809697866 0.0447279474826917 0.999344980060586 0.974408342210165 NA 0.0255916577898352 NA FALSE NA 0 -1.879 . intron_variant MODIFIER MTOR HGNC 3942 ENST00000361445 41/57 1 NA ATA T,C 8.237e-06 1:11128583 MTOR HGNC Symbol protein_coding 155972 ENSG00000198793 ENSE00001167858 intron_variant 0.101466 0.15292 0.04055 0.062308 0.49232335652804 0.0663183 0.999999999999676 TRUE 1.22342e-05 ENSE00001167858_BRK ENSE00001167858 BRK 1 11188481 11188650 - 30 99 41 A,G; T,T NA NA NA CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCTTGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGCCATGTGGAGACTCTGGGCAGTTTCTCATC 11128423 11128593 NA NA NA NA NA NA CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCTTGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGCCATGTGGAGACTCTGGGCAGTTTCTCATC CAAGTCTCATATGCTACATACTGTGTCTTTTTGAATACCAGGTTATACCTCAGCTCATTGCAAGAATTGATACGCCCAGACCCTTGGTGGGACGTCTCATTCACCAGCTTCTCACAGACATTGGTCGGTACCACCCCCAGGTATGTGGAGACTCTGGGCAGTTTCTCATC control 90 215 0 0 0 NA NA NA NA NA 0.999193815245069 0.999496144876102 0.993544631903021 0.955272052517308 -0.999193815245069 -0.999496144876102 NA NA 0.999344980060586 0.974408342210165 -0.999344980060586 NA NA NA TRUE NA NA NA NA NA MTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTOR NA NA NA ENSG00000198793 ENSE00001167858 NA NA NA NA NA NA NA 0.999999999999676 TRUE NA ENSE00001168157_000 ENSE00001168157 000 1 11133949 11134118 - 42 75 53 NA NA NA NA NA GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 NA NA NA NA NA NA GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT natural 732 1108 0.85295875384071 0.842993391426087 0.847976072633398 5023 3839 0.755879829132855 0.829853095849764 0.79286646249131 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 0 0 0 0 0.847976072633398 0.79286646249131 0 0 0 FALSE FALSE NA NA NA NA NA EXOSC10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXOSC10 NA NA NA ENSG00000171824 ENSE00003673100 NA NA NA NA NA NA NA 1.65795367368417e-07 FALSE NA ENSE00001168157_001 ENSE00001168157 001 1 11133949 11134118 - 42 75 53 C A 11133960 237 159 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGATACTTTTTTTTT 11073891 11074061 11073902 11073903 11073903 downstr_intron 31 1.75609756097561 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGATACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 68 72 0.903894984546113 0.85 0.876947492273056 NA NA NA NA NA 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 0.0509362307054034 0.00700660857391289 NA NA 0.847976072633398 0.79286646249131 0.0289714196396582 NA NA NA FALSE 0.218 2.57 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/22 1 NA TCT C,A 8.343e-06 1:11073903 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant 2.026708 0.19029 0.81686 0.139865 0.843686544442816 0.133586 1.65795367368417e-07 FALSE 5.50646e-05 ENSE00001168157_002 ENSE00001168157 002 1 11133949 11134118 - 42 75 53 T C 11133961 238 158 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGGGACTTTTTTTTT 11073891 11074061 11073903 11073904 11073904 downstr_intron 30 1.73170731707317 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGGGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 41 99 0.85 0.816637963575182 0.833318981787591 174 211 0.945529022659727 0.84990523207546 0.897717127367594 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 -0.0263554278509046 0.189649193526872 0.0200521362256958 0.847976072633398 0.79286646249131 -0.0146570908458071 0.104850664876284 0.119507755722091 FALSE FALSE 0.034 0.192 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/22 rs369649478 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 CTC T,C 8.261e-05 1:11073904 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant 1.751876 0.1086 0.13544 0.139865 0.771201541447798 0.133586 1.65795367368417e-07 FALSE 5.40155e-05 ENSE00001168157_003 ENSE00001168157 003 1 11133949 11134118 - 42 75 53 A C 11133980 239 139 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACGTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073922 11073923 11073923 downstr_intron 11 1.26829268292683 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACGTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 103 130 0.800571693961277 0.85 0.825285846980639 261 786 0.758190970413055 0.801285403483462 0.779738186948259 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.0523870598794322 0.00700660857391289 0.00231114128019982 -0.028567692366302 0.847976072633398 0.79286646249131 -0.0226902256527596 -0.0131282755430511 0.00956195010970856 FALSE FALSE 0.002 1.815 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/22 1 NA AAG A,C 8.236e-06 1:11073923 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant 1.840198 0.23595 0.31609 0.139865 0.747664197189343 0.148587 1.65795367368417e-07 FALSE 4.06309e-06 ENSE00001168157_004 ENSE00001168157 004 1 11133949 11134118 - 42 75 53 C T 11133984 240 135 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTAGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073926 11073927 11073927 downstr_intron 7 1.17073170731707 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTAGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 44 122 0.85 0.85 0.85 206 665 0.900727049652575 0.867380731665124 0.88405389065885 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 0.00700660857391289 0.14484722051972 0.0375276358153596 0.847976072633398 0.79286646249131 0.00202392736660162 0.0911874281675398 0.0891635008009382 FALSE FALSE 0.003 -0.346 rs145888478 splice_region_variant&intron_variant LOW EXOSC10 HGNC 9138 ENST00000544779 17/22 rs145888478 1 T:0.0014 T:0 T:0.0058 NA T:0 T:0.002 T:0.001 T:0.0005 T:0.004 CCA C,T 0.002726 1:11073927 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 splice_region_variant 1.02558 0.15282 0.01552 0.139865 0.902037480273648 0.186145 1.65795367368417e-07 FALSE 0.0029499 ENSE00001168157_005 ENSE00001168157 005 1 11133949 11134118 - 42 75 53 T C 11133995 241 124 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTGTGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073937 11073938 11073938 exon -5 0.946666666666667 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTGTGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 201 307 0.86021218435279 0.85 0.855106092176395 147 518 0.623297445442561 0.822684255011999 0.72299085022728 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 0.00725343051207994 0.00700660857391289 -0.132582383690294 -0.00716884083776503 0.847976072633398 0.79286646249131 0.00713001954299641 -0.0698756122640294 0.0770056318070259 FALSE FALSE 1 2.615 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 1 NA ATA T,C 3.295e-05 1:11073938 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 5.799978 0.98416 0.94673 0.722319 0.998287273993379 0 1.65795367368417e-07 FALSE 2.4374e-05 ENSE00001168157_006 ENSE00001168157 006 1 11133949 11134118 - 42 75 53 A C 11133998 242 121 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAAGCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073940 11073941 11073941 exon -8 0.906666666666667 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAAGCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 145 239 0.85 0.85 0.85 219 661 0.884356214912999 0.944648813064053 0.914502513988526 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 0.00700660857391289 0.128476385780144 0.114795717214289 0.847976072633398 0.79286646249131 0.00202392736660162 0.121636051497216 0.119612124130615 FALSE FALSE 1 7.234 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 1 NA GAT A,C 8.236e-06 1:11073941 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 5.426016 0.99184 0.99285 0.722319 0.993321670225203 0 1.65795367368417e-07 FALSE 8.1361e-06 ENSE00001168157_007 ENSE00001168157 007 1 11133949 11134118 - 42 75 53 T C 11134005 243 114 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAGCCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073947 11073948 11073948 exon -15 0.813333333333333 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAGCCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 60 110 0.878875815500809 0.903191642884446 0.891033729192627 1530 897 0.829623887434231 0.820062846331676 0.824843366882953 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 0.0259170616600991 0.0601982514583586 0.0737440583013756 -0.00979024951808871 0.847976072633398 0.79286646249131 0.0430576565592288 0.0319769043916435 0.0110807521675854 FALSE FALSE 0.999 4.193 rs115976717 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 rs115976717 1 C:0.0014 C:0 C:0.0014 NA C:0 C:0.006 C:0 C:0 C:0.0036 GTT T,C 0.001573 1:11073948 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 1.966771 0.9573 0.89644 0.722319 0.984437298078337 0 1.65795367368417e-07 FALSE 0.00174213 ENSE00001168157_008 ENSE00001168157 008 1 11133949 11134118 - 42 75 53 T G 11134006 244 113 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCCACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073948 11073949 11073949 exon -16 0.8 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCCACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 329 443 0.85 0.85 0.85 811 168 0.707452649396026 0.81553167349987 0.761492161447948 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070976 0.00700660857391289 -0.0484271797368291 -0.0143214223498946 0.847976072633398 0.79286646249131 0.00202392736660156 -0.0313743010433619 0.0333982284099634 FALSE FALSE 0 -2.725 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 rs376441584 1 NA G:0 G:0.0001 TTG T,G 8.236e-06 1:11073949 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 synonymous_variant 0.956236 0.19368 0.05408 0.722319 0.711038695408203 0 1.65795367368417e-07 FALSE 4.06085e-06 ENSE00001168157_009 ENSE00001168157 009 1 11133949 11134118 - 42 75 53 A G 11134012 245 107 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGACCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073954 11073955 11073955 exon -22 0.72 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGACCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant NA NA NA NA NA 298 1209 0.947991020603688 0.958079179051181 0.953035099827434 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 NA NA 0.192111191470832 0.128226083201416 0.847976072633398 0.79286646249131 NA 0.160168637336124 NA FALSE NA 0.998 0.331 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 rs568198105 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GAT A,G 5.765e-05 1:11073955 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 synonymous_variant 0.723773 0.95575 0.43852 0.722319 0.730480943522313 0 1.65795367368417e-07 FALSE 3.65464e-05 ENSE00001168157_011 ENSE00001168157 011 1 11133949 11134118 - 42 75 53 C T 11134014 247 105 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCAATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073956 11073957 11073957 exon -24 0.693333333333333 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCAATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant NA NA NA NA NA 399 132 0.702029839346911 0.874049767449399 0.788039803398155 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 NA NA -0.0538499897859438 0.044196671599635 0.847976072633398 0.79286646249131 NA -0.00482665909315438 NA FALSE NA 1 6.055 NA NA NA EXOSC10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11073957 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 7.683284 0.99328 0.98835 0.722319 0.999268944945781 0 1.65795367368417e-07 FALSE 8.12163e-06 ENSE00001168157_012 ENSE00001168157 012 1 11133949 11134118 - 42 75 53 G A 11134015 248 104 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTTGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073957 11073958 11073958 exon -25 0.68 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTTGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 45 19 0.85 0.85 0.85 380 375 0.8 0.870449769600099 0.835224884800049 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 0.00700660857391289 0.0441201708671448 0.0405966737503344 0.847976072633398 0.79286646249131 0.00202392736660162 0.0423584223087396 0.040334494942138 FALSE FALSE 0.551 -0.143 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 rs373184731 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0001 CGA G,A 5.765e-05 1:11073958 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 synonymous_variant 1.755926 0.32554 0.14506 0.722319 0.833152792305893 0 1.65795367368417e-07 FALSE 3.2487e-05 ENSE00001168157_013 ENSE00001168157 013 1 11133949 11134118 - 42 75 53 C T 11134021 249 98 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCAAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073963 11073964 11073964 exon -31 0.6 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCAAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 242 49 0 0.0819756414994972 0.0409878207497486 973 337 0.00910490998389576 0.00150181083552821 0.00530336040971199 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.85295875384071 -0.76101774992659 -0.746774919148959 -0.828351285014236 0.847976072633398 0.79286646249131 -0.80698825188365 -0.787563102081598 0.019425149802052 TRUE TRUE 0.668 -0.516 rs190900126 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 rs190900126 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TCG C,T 8.236e-06 1:11073964 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 synonymous_variant 1.91751 0.17196 0.06745 0.722319 0.880197053781998 0 1.65795367368417e-07 FALSE 8.12137e-06 ENSE00001168157_014 ENSE00001168157 014 1 11133949 11134118 - 42 75 53 C T 11134023 250 96 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAACGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073965 11073966 11073966 exon -33 0.573333333333333 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAACGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 76 178 0.835439571411215 0.85 0.842719785705608 457 839 0.920954661412796 0.888008067731263 0.904481364572029 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.0175191824294944 0.00700660857391289 0.165074832279941 0.0581549718814983 0.847976072633398 0.79286646249131 -0.00525628692779073 0.11161490208072 0.11687118900851 FALSE FALSE 1 6.055 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 1 NA GCT C,T 8.236e-06 1:11073966 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 5.56616 0.99328 0.98835 0.722319 0.999147104315093 0 1.65795367368417e-07 FALSE 4.06068e-06 ENSE00001168157_015 ENSE00001168157 015 1 11133949 11134118 - 42 75 53 C T 11134035 251 84 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCATCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073977 11073978 11073978 exon 31 0.413333333333333 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCATCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 120 55 0 0.0603996428989675 0.0301998214494837 551 35 0.0390275574049618 0.0517106914668107 0.0453691244358862 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.85295875384071 -0.78259374852712 -0.716852271727893 -0.778142404382954 0.847976072633398 0.79286646249131 -0.817776251183915 -0.747497338055424 0.0702789131284911 TRUE TRUE 0.94 -0.125 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 COSM893720 1 NA ACG C,T 4.118e-05 1:11073978 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 0.140379 0.89255 0.40638 0.722319 0.860497201018596 0 1.65795367368417e-07 FALSE 2.03036e-05 ENSE00001168157_016 ENSE00001168157 016 1 11133949 11134118 - 42 75 53 G T 11134036 252 83 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCAGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073978 11073979 11073979 exon 30 0.4 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCAGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 38 133 0.926039872914466 0.85 0.888019936457233 2533 1075 0.812783734460837 0.955898960867822 0.884341347664329 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 0.0730811190737559 0.00700660857391289 0.0569039053279817 0.126045865018058 0.847976072633398 0.79286646249131 0.0400438638238344 0.0914748851730197 0.0514310213491853 FALSE FALSE 0.998 1.599 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11073979 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 synonymous_variant 0.512767 0.94356 0.93674 0.722319 0.736928398557016 0 1.65795367368417e-07 FALSE 4.06072e-06 ENSE00001168157_017 ENSE00001168157 017 1 11133949 11134118 - 42 75 53 G A 11134036 253 83 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCTGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073978 11073979 11073979 exon 30 0.4 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCTGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 16 44 0.971540520616084 0.85 0.910770260308042 238 375 0.921003565552951 0.801058831503616 0.861031198528283 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 0.118581766775375 0.00700660857391289 0.165123736420096 -0.0287942643461483 0.847976072633398 0.79286646249131 0.0627941876746437 0.0681647360369738 0.00537054836233003 FALSE FALSE 0.998 1.599 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXOSC10 NA NA NA ENSG00000171824 ENSE00003673100 synonymous_variant 1.048736 0.93643 0.86145 0.722319 0.79681554800276 0 1.65795367368417e-07 FALSE 2.03036e-05 ENSE00001168157_018 ENSE00001168157 018 1 11133949 11134118 - 42 75 53 G C 11134038 254 81 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTGCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073980 11073981 11073981 exon 28 0.373333333333333 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTGCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant NA NA NA NA NA 793 306 0.738496141959586 0.8 0.769248070979793 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 NA NA -0.0173836871732688 -0.0298530958497643 0.847976072633398 0.79286646249131 NA -0.0236183915115165 NA FALSE NA 1 3.756 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11073981 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 0.15865 0.97551 0.97056 0.722319 0.774992861697445 0 1.65795367368417e-07 FALSE 8.12156e-06 ENSE00001168157_019 ENSE00001168157 019 1 11133949 11134118 - 42 75 53 G A 11134038 255 81 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTTCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073980 11073981 11073981 exon 28 0.373333333333333 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTTCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 13 40 0.94099551743358 0.914810534266075 0.927903025849828 426 330 0.972703247670305 0.9626206826937 0.967661965182002 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 0.0880367635928704 0.0718171428399882 0.21682341853745 0.132767586843936 0.847976072633398 0.79286646249131 0.0799269532164293 0.174795502690693 0.0948685494742634 FALSE FALSE 1 3.756 NA NA NA EXOSC10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXOSC10 NA NA NA ENSG00000171824 ENSE00003673100 missense_variant 1.181721 0.97276 0.93817 0.722319 0.974621200125394 0 1.65795367368417e-07 FALSE 8.12156e-06 ENSE00001168157_020 ENSE00001168157 020 1 11133949 11134118 - 42 75 53 C T 11134043 256 76 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCATGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073985 11073986 11073986 exon 23 0.306666666666667 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCATGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant NA NA NA NA NA 988 824 0.804069662381697 0.801249040404777 0.802659351393237 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 NA NA 0.0481898332488422 -0.0286040554449872 0.847976072633398 0.79286646249131 NA 0.00979288890192748 NA FALSE NA 0 -0.649 rs117771172 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 rs117771172 1 T:0.0333 T:0.0023 T:0.0476 NA T:0.0417 T:0 T:0.091 T:0.0018 T:0.0001 ACG C,T 0.018 1:11073986 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 0.692365 0.17458 0.04897 0.722319 0.918357393671114 0 1.65795367368417e-07 FALSE 0.0201634 ENSE00001168157_021 ENSE00001168157 021 1 11133949 11134118 - 42 75 53 T C 11134046 257 73 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACGCCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073988 11073989 11073989 exon 20 0.266666666666667 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACGCCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 149 336 0.842607373635552 0.802069496420746 0.822338435028149 NA NA NA NA NA 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.0103513802051576 -0.0409238950053409 NA NA 0.847976072633398 0.79286646249131 -0.0256376376052492 NA NA NA FALSE 0.992 1.553 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 1 NA GTG T,C 1.647e-05 1:11073989 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant -1.464698 0.26105 0.74568 0.722319 0.497581977400795 0 1.65795367368417e-07 FALSE 2.03039e-05 ENSE00001168157_022 ENSE00001168157 022 1 11133949 11134118 - 42 75 53 C A 11134049 258 70 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGTACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073991 11073992 11073992 exon 17 0.226666666666667 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGTACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 974 645 0.849437037853625 0.85 0.849718518926812 NA NA NA NA NA 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00352171598708462 0.00700660857391289 NA NA 0.847976072633398 0.79286646249131 0.00174244629341413 NA NA NA FALSE 0.996 3.415 . 3_prime_UTR_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 17/23 rs200670819 1 NA TCC C,A 1.647e-05 1:11073992 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 missense_variant 1.470763 0.47264 0.78869 0.722319 0.885934858515055 0 1.65795367368417e-07 FALSE 2.03036e-05 ENSE00001168157_023 ENSE00001168157 023 1 11133949 11134118 - 42 75 53 G A 11134057 259 62 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCTTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073999 11074000 11074000 exon 9 0.12 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCTTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 226 253 0.847570849994391 0.85 0.848785424997196 1516 185 0.6939399231922 0.800780592715233 0.747360257953717 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00538790384631826 0.00700660857391278 -0.0619399059406551 -0.029072503134531 0.847976072633398 0.79286646249131 0.000809352363797256 -0.0455062045375931 0.0463155569013903 FALSE FALSE 0.994 0.366 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:11074000 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 synonymous_variant 0.17286 0.45668 0.29209 0.722319 0.917953788781631 0 1.65795367368417e-07 FALSE 8.12163e-06 ENSE00001168157_024 ENSE00001168157 024 1 11133949 11134118 - 42 75 53 G C 11134057 260 62 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCGTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11073999 11074000 11074000 exon 9 0.12 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCGTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant NA NA NA NA NA 2450 661 0.977952461875858 0.978204552135793 0.978078507005826 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 NA NA 0.222072632743003 0.148351456286029 0.847976072633398 0.79286646249131 NA 0.185212044514516 NA FALSE NA 0.994 0.366 NA NA NA EXOSC10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXOSC10 NA NA NA ENSG00000171824 ENSE00003673100 synonymous_variant -0.204153 0.48875 0.65434 0.722319 0.765197433426205 0 1.65795367368417e-07 FALSE 4.06081e-06 ENSE00001168157_025 ENSE00001168157 025 1 11133949 11134118 - 42 75 53 G A 11134068 261 51 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCTAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074010 11074011 11074011 upstr_intron -3 -0.0377358490566038 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCTAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 266 279 0.85 0.85 0.85 NA NA NA NA NA 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 0.00700660857391289 NA NA 0.847976072633398 0.79286646249131 0.00202392736660162 NA NA NA FALSE 0.998 2.303 . splice_region_variant&intron_variant LOW EXOSC10 HGNC 9138 ENST00000544779 16/22 1 NA TGG G,A 8.236e-06 1:11074011 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 splice_region_variant 1.299509 0.98649 0.79518 0.099367 0.884442664211733 0.808163 1.65795367368417e-07 FALSE 8.12216e-06 ENSE00001168157_026 ENSE00001168157 026 1 11133949 11134118 - 42 75 53 G A 11134069 262 50 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTTCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074011 11074012 11074012 upstr_intron -4 -0.0566037735849057 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTTCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant NA NA NA NA NA 1020 1024 0.847336284122223 0.809974627086161 0.828655455604192 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 NA NA 0.0914564549893681 -0.0198784687636038 0.847976072633398 0.79286646249131 NA 0.0357889931128821 NA FALSE NA 0 -0.652 . splice_region_variant&intron_variant LOW EXOSC10 HGNC 9138 ENST00000544779 16/22 rs566253732 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGA G,A 1.647e-05 1:11074012 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 splice_region_variant 0.234214 0.16808 0.06912 0.099367 0.913822524813093 0.139008 1.65795367368417e-07 FALSE 8.12222e-06 ENSE00001168157_028 ENSE00001168157 028 1 11133949 11134118 - 42 75 53 G A 11134081 264 38 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCTATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074023 11074024 11074024 upstr_intron -16 -0.283018867924528 GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCTATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 114 164 0.85 0.85 0.85 349 1261 0.976357503780713 0.981917122664289 0.979137313222501 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 0.00700660857391289 0.220477674647858 0.152064026814525 0.847976072633398 0.79286646249131 0.00202392736660162 0.186270850731191 0.18424692336459 FALSE FALSE 0 -1.638 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 rs576246296 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 TGG G,A 0.0008895 1:11074024 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant 0.250621 0.09451 0.00201 0.099367 0.618869635015443 0.0634686 1.65795367368417e-07 FALSE 0.00121844 ENSE00001168157_029 ENSE00001168157 029 1 11133949 11134118 - 42 75 53 C T 11134093 265 26 GGCTCTAGATTCCGTTCCCGGCAGCATTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074035 11074036 11074036 upstr_intron -28 -0.509433962264151 GGCTCTAGATTCCGTTCCCGGCAGCATTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 12 21 0.85 0.85 0.85 1902 2137 0.794749356768062 0.804045862356287 0.799397609562175 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 0.00700660857391289 0.0388695276352071 -0.0258072334934774 0.847976072633398 0.79286646249131 0.00202392736660162 0.00653114707086488 0.00450721970426327 FALSE FALSE 0 -3.291 rs187374661 intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 rs187374661 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0023 T:0.0002 ACG C,T 0.0001894 1:11074036 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant -0.151232 0.09723 0.01017 0.099367 0.770471357162869 0.0634686 1.65795367368417e-07 FALSE 0.000166561 ENSE00001168157_030 ENSE00001168157 030 1 11133949 11134118 - 42 75 53 G A 11134094 266 25 GGCTCTAGATTCCGTTCCCGGCAGTGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074036 11074037 11074037 upstr_intron -29 -0.528301886792453 GGCTCTAGATTCCGTTCCCGGCAGTGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 182 252 0.828626307872823 0.85 0.839313153936411 1547 494 0.772145292374293 0.832951978109669 0.802548635241981 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.0243324459678871 0.00700660857391289 0.016265463241438 0.00309888225990496 0.847976072633398 0.79286646249131 -0.0086629186969871 0.00968217275067146 0.0183450914476586 FALSE FALSE 0 0.355 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 1 NA CGC G,A 4.118e-05 1:11074037 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant 0.37947 0.28883 0.07414 0.099367 0.650966782549586 0.0634686 1.65795367368417e-07 FALSE 4.46966e-05 ENSE00001168157_031 ENSE00001168157 031 1 11133949 11134118 - 42 75 53 C T 11134099 267 20 GGCTCTAGATTCCGTTCCCAGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074041 11074042 11074042 upstr_intron -34 -0.622641509433962 GGCTCTAGATTCCGTTCCCAGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 112 111 0.85 0.85 0.85 727 1201 0.815785574965318 0.912529990222008 0.864157782593663 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 0.00700660857391289 0.0599057458324627 0.0826768943722438 0.847976072633398 0.79286646249131 0.00202392736660162 0.0712913201023532 0.0692673927357516 FALSE FALSE 0 -2.82 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 1 NA CCG C,T 8.236e-06 1:11074042 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant -0.522006 0.07979 0.01634 0.099367 0.715472394005336 0.0634686 1.65795367368417e-07 FALSE 8.12843e-06 ENSE00001168157_032 ENSE00001168157 032 1 11133949 11134118 - 42 75 53 G A 11134102 268 17 GGCTCTAGATTCCGTTTCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074044 11074045 11074045 upstr_intron -37 -0.679245283018868 GGCTCTAGATTCCGTTTCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 134 132 0.833462735722453 0.85 0.841731367861227 2511 935 0.938389682902916 0.934137156465136 0.936263419684026 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.0194960181182564 0.00700660857391289 0.18250985377006 0.104284060615371 0.847976072633398 0.79286646249131 -0.00624470477217176 0.143396957192716 0.149641661964888 FALSE FALSE 0 0.025 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 1 NA GGA G,A 8.236e-06 1:11074045 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant 0.333779 0.16084 0.03197 0.099367 0.84379789562321 0.0634686 1.65795367368417e-07 FALSE 4.06458e-06 ENSE00001168157_033 ENSE00001168157 033 1 11133949 11134118 - 42 75 53 A C 11134103 269 16 GGCTCTAGATTCCGTGCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074045 11074046 11074046 upstr_intron -38 -0.69811320754717 GGCTCTAGATTCCGTGCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 377 529 0.848544716085372 0.85 0.849272358042686 727 152 0.804644563929023 0.805707667367332 0.805176115648177 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00441403775533722 0.00700660857391289 0.0487647347961676 -0.0241454284824325 0.847976072633398 0.79286646249131 0.00129628540928783 0.0123096531568676 0.0110133677475797 FALSE FALSE 0 -0.488 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 rs202156521 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 GAA A,C 0.0001483 1:11074046 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant -0.07156 0.10152 0.04586 0.099367 0.592995955912515 0.0484394 1.65795367368417e-07 FALSE 0.000101616 ENSE00001168157_034 ENSE00001168157 034 1 11133949 11134118 - 42 75 53 C T 11134105 270 14 GGCTCTAGATTCCATTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074047 11074048 11074048 upstr_intron -40 -0.735849056603774 GGCTCTAGATTCCATTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 37 97 0.85 0.85 0.85 NA NA NA NA NA 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070965 0.00700660857391289 NA NA 0.847976072633398 0.79286646249131 0.00202392736660162 NA NA NA FALSE 0 -5.496 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 1 NA ACG C,T 1.647e-05 1:11074048 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant -0.642662 0.04694 0.00425 0.099367 0.729510707684933 0.0484394 1.65795367368417e-07 FALSE 2.43992e-05 ENSE00001168157_035 ENSE00001168157 035 1 11133949 11134118 - 42 75 53 G A 11134106 271 13 GGCTCTAGATTCTGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074048 11074049 11074049 upstr_intron -41 -0.754716981132076 GGCTCTAGATTCTGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 72 70 0.842349412803855 0.85 0.846174706401927 423 1124 0.688763483397918 0.884011573303898 0.786387528350908 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.0106093410368547 0.00700660857391289 -0.0671163457349376 0.054158477454134 0.847976072633398 0.79286646249131 -0.00180136623147092 -0.00647893414040179 0.00467756790893087 FALSE FALSE 0 -1.793 rs192936466 intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 rs192936466 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGG G,A 2.471e-05 1:11074049 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant -0.202418 0.11167 0.02133 0.099367 0.715963091581399 0.0484394 1.65795367368417e-07 FALSE 1.62684e-05 ENSE00001168157_036 ENSE00001168157 036 1 11133949 11134118 - 42 75 53 G A 11134107 272 12 GGCTCTAGATTTCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 11074049 11074050 11074050 upstr_intron -42 -0.773584905660377 GGCTCTAGATTTCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT mutant 73 82 0.85 0.85 0.85 1358 793 0.780789364009507 0.815171183849493 0.7979802739295 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.00295875384070954 0.00700660857391289 0.0249095348766514 -0.0146819120002712 0.847976072633398 0.79286646249131 0.00202392736660167 0.00511381143819006 0.00308988407158839 FALSE FALSE 0 0.036 . intron_variant MODIFIER EXOSC10 HGNC 9138 ENST00000544779 16/22 1 NA GGA G,A 8.236e-06 1:11074050 EXOSC10 HGNC Symbol protein_coding 33263 ENSG00000171824 ENSE00003673100 intron_variant 0.367295 0.28702 0.08895 0.099367 0.582295057064236 0.0484394 1.65795367368417e-07 FALSE 4.06686e-06 ENSE00001168157_BRK ENSE00001168157 BRK 1 11133949 11134118 - 42 75 53 A,G; T,T NA NA NA GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCTTTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAACCAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT 11073891 11074061 NA NA NA NA NA NA GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCTTTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAACCAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT GGCTCTAGATTCCGTTCCCGGCAGCGTTTCACACAGCCATTTCCTTCCTCCAGTTTCTGCCCTCACTGGGACACCGTGCTCCCGTCTCTCAGGCAGCGAAGTTCGATCCATCAACCAAAATCTATGAAGTAAGTGGACTTGTCACCTGTTCTAAAAGAGACTTTTTTTTT control 320 579 0 0 0 637 2540 0.0160885884266787 0.0173842430967198 0.0167364157616992 0.85295875384071 0.842993391426087 0.755879829132855 0.829853095849764 -0.85295875384071 -0.842993391426087 -0.739791240706177 -0.812468852753044 0.847976072633398 0.79286646249131 -0.847976072633398 -0.776130046729611 0.0718460259037879 TRUE TRUE NA NA NA NA NA EXOSC10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXOSC10 NA NA NA ENSG00000171824 ENSE00003673100 NA NA NA NA NA NA NA 1.65795367368417e-07 FALSE NA ENSE00001169934_000 ENSE00001169934 000 8 141674977 141675146 - 39 81 50 NA NA NA NA NA AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 NA NA NA NA NA NA AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC natural NA NA NA NA NA 1918 3348 0.878415986536062 0.815848187244979 0.847132086890521 NA NA 0.878415986536062 0.815848187244979 NA NA 0 0 NA 0.847132086890521 NA 0 NA FALSE NA NA NA NA NA NA PTK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTK2 NA NA NA ENSG00000169398 ENSE00003516040 NA NA NA NA NA NA NA 0.999992957786805 TRUE NA ENSE00001169934_001 ENSE00001169934 001 8 141674977 141675146 - 39 81 50 G A 141674993 2984 154 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGTAGCCCTCTGTGACAGC 140664877 140665047 140664893 140664894 140664894 downstr_intron 23 1.60526315789474 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGTAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 174 634 0.999050084522411 0.996572322193257 0.997811203357834 NA NA 0.878415986536062 0.815848187244979 NA NA 0.120634097986349 0.180724134948277 NA 0.847132086890521 NA 0.150679116467313 NA FALSE NA 0.007 0.519 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 21/21 1 NA TGC G,A 8.237e-06 8:140664894 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 intron_variant 0.044014 0.12133 0.02285 0.162113 0.547365303908317 0.0549589 0.999992957786805 TRUE NA ENSE00001169934_003 ENSE00001169934 003 8 141674977 141675146 - 39 81 50 C T 141675020 2986 127 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCAAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664920 140664921 140664921 exon -5 0.950617283950617 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCAAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 239 13 1 1 1 NA NA 0.878415986536062 0.815848187244979 NA NA 0.121584013463938 0.184151812755021 NA 0.847132086890521 NA 0.15286791310948 NA FALSE NA 1 7.477 . missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 21/22 1 possibly_damaging(0.717) NA TCG C,T 8.236e-06 8:140664921 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 missense_variant 8.065911 0.99497 0.99039 0.706548 0.999444683194898 0 0.999992957786805 TRUE NA ENSE00001169934_004 ENSE00001169934 004 8 141674977 141675146 - 39 81 50 G T 141675035 2987 112 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACAAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664935 140664936 140664936 exon -20 0.765432098765432 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACAAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 792 385 0.992168249459862 0.994125869668618 0.99314705956424 NA NA 0.878415986536062 0.815848187244979 NA NA 0.113752262923801 0.178277682423639 NA 0.847132086890521 NA 0.14601497267372 NA FALSE NA 1 9.424 . missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 21/22 1 probably_damaging(1) NA TGG G,T 8.236e-06 8:140664936 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 missense_variant 6.624179 0.99524 0.99511 0.706548 0.99320429130434 0 0.999992957786805 TRUE 8.14943e-06 ENSE00001169934_005 ENSE00001169934 005 8 141674977 141675146 - 39 81 50 T C 141675037 2988 110 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTGCCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664937 140664938 140664938 exon -22 0.740740740740741 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTGCCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 357 150 1 1 1 NA NA 0.878415986536062 0.815848187244979 NA NA 0.121584013463938 0.184151812755021 NA 0.847132086890521 NA 0.15286791310948 NA FALSE NA 0.007 -1.309 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 21/22 rs377645776 1 NA C:0.0002 C:0.0001 GTA T,C 9.06e-05 8:140664938 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 synonymous_variant 0.0067 0.84816 0.10335 0.706548 0.671361546130764 0 0.999992957786805 TRUE 6.52098e-05 ENSE00001169934_006 ENSE00001169934 006 8 141674977 141675146 - 39 81 50 G A 141675042 2989 105 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCTTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664942 140664943 140664943 exon -27 0.679012345679012 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCTTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 442 1425 0.998339628724267 0.999759279056542 0.999049453890405 NA NA 0.878415986536062 0.815848187244979 NA NA 0.119923642188206 0.183911091811563 NA 0.847132086890521 NA 0.151917366999884 NA FALSE NA 0 -0.112 . missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 21/22 1 benign(0.002) NA AGG G,A 8.236e-06 8:140664943 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 missense_variant -1.090814 0.26364 0.09704 0.706548 0.326447556297325 0 0.999992957786805 TRUE 8.14412e-06 ENSE00001169934_007 ENSE00001169934 007 8 141674977 141675146 - 39 81 50 G A 141675044 2990 103 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCTCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664944 140664945 140664945 exon -29 0.654320987654321 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCTCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 766 585 1 0.994511568432696 0.997255784216348 NA NA 0.878415986536062 0.815848187244979 NA NA 0.121584013463938 0.178663381187717 NA 0.847132086890521 NA 0.150123697325828 NA FALSE NA 1 9.424 rs182400745 missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 21/22 rs182400745&COSM3645746&COSM3645748&COSM3645747 1 probably_damaging(1) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGG G,A 2.471e-05 8:140664945 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 missense_variant 5.339437 0.99509 0.99427 0.706548 0.998724696837688 0 0.999992957786805 TRUE 1.22094e-05 ENSE00001169934_009 ENSE00001169934 009 8 141674977 141675146 - 39 81 50 C T 141675052 2992 95 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAAACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664952 140664953 140664953 exon -37 0.555555555555556 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAAACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 761 95 0.991013230148318 0.965629374266554 0.978321302207436 NA NA 0.878415986536062 0.815848187244979 NA NA 0.112597243612256 0.149781187021575 NA 0.847132086890521 NA 0.131189215316915 NA FALSE NA 1 0.826 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 21/22 1 NA TCT C,T 8.236e-06 8:140664953 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 synonymous_variant 1.850198 0.97789 0.89954 0.706298 0.570831970242545 0 0.999992957786805 TRUE 4.06812e-06 ENSE00001169934_011 ENSE00001169934 011 8 141674977 141675146 - 39 81 50 T C 141675070 2994 77 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTGTTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664970 140664971 140664971 exon 27 0.333333333333333 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTGTTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 467 132 0.883642532316166 1 0.941821266158083 NA NA 0.878415986536062 0.815848187244979 NA NA 0.00522654578010429 0.184151812755021 NA 0.847132086890521 NA 0.0946891792675624 NA FALSE NA 0.006 -1.015 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 21/22 1 NA ATA T,C 8.236e-06 8:140664971 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 synonymous_variant 0.584477 0.25642 0.05318 0.706298 0.697794330430659 0 0.999992957786805 TRUE 4.06686e-06 ENSE00001169934_012 ENSE00001169934 012 8 141674977 141675146 - 39 81 50 G A 141675074 2995 73 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGATATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664974 140664975 140664975 exon 23 0.283950617283951 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGATATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 300 251 0.957874111852668 0.987913765201098 0.972893938526883 NA NA 0.878415986536062 0.815848187244979 NA NA 0.079458125316606 0.172065577956118 NA 0.847132086890521 NA 0.125761851636362 NA FALSE NA 1 7.446 . missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 21/22 1 probably_damaging(1) NA TGT G,A 8.236e-06 8:140664975 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 missense_variant 5.73051 0.99509 0.99075 0.706298 0.999079141424236 0 0.999992957786805 TRUE 4.06696e-06 ENSE00001169934_013 ENSE00001169934 013 8 141674977 141675146 - 39 81 50 G A 141675091 2996 56 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTTGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140664991 140664992 140664992 exon 6 0.0740740740740741 AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTTGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 371 288 0.824527383028358 0.951584582516517 0.888055982772437 NA NA 0.878415986536062 0.815848187244979 NA NA -0.053888603507704 0.135736395271537 NA 0.847132086890521 NA 0.0409238958819167 NA FALSE NA 0.044 -0.425 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 21/22 1 NA CGA G,A 1.647e-05 8:140664992 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 synonymous_variant 1.602979 0.9667 0.23535 0.706298 0.696085612285797 0 0.999992957786805 TRUE 2.85181e-05 ENSE00001169934_014 ENSE00001169934 014 8 141674977 141675146 - 39 81 50 C A 141675118 2997 29 AAAAATCCTTTGTGTGTGTTCTAATATTTGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140665018 140665019 140665019 upstr_intron -22 -0.42 AAAAATCCTTTGTGTGTGTTCTAATATTTGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 228 105 1 1 1 NA NA 0.878415986536062 0.815848187244979 NA NA 0.121584013463938 0.184151812755021 NA 0.847132086890521 NA 0.15286791310948 NA FALSE NA 0 -0.016 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 20/21 1 NA CCA C,A 8.236e-06 8:140665019 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 intron_variant 2.081412 0.27735 0.11067 0.099367 0.82838748900637 0.263921 0.999992957786805 TRUE 4.11631e-06 ENSE00001169934_017 ENSE00001169934 017 8 141674977 141675146 - 39 81 50 C T 141675129 3000 18 AAAAATCCTTTGTGTGTATTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140665029 140665030 140665030 upstr_intron -33 -0.64 AAAAATCCTTTGTGTGTATTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 332 996 0.997999653917366 0.987618897018053 0.99280927546771 NA NA 0.878415986536062 0.815848187244979 NA NA 0.119583667381305 0.171770709773074 NA 0.847132086890521 NA 0.145677188577189 NA FALSE NA 0 -0.52 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 20/21 1 NA ACA C,T 8.237e-06 8:140665030 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 intron_variant 1.0941 0.21169 0.06967 0.099367 0.726558770747602 0.0682425 0.999992957786805 TRUE 8.56575e-06 ENSE00001169934_018 ENSE00001169934 018 8 141674977 141675146 - 39 81 50 C G 141675133 3001 14 AAAAATCCTTTGTCTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 140665033 140665034 140665034 upstr_intron -37 -0.72 AAAAATCCTTTGTCTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC mutant NA NA NA NA NA 970 611 0.991822973069864 1 0.995911486534932 NA NA 0.878415986536062 0.815848187244979 NA NA 0.113406986533803 0.184151812755021 NA 0.847132086890521 NA 0.148779399644412 NA FALSE NA 0 -0.904 rs116099749 intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 20/21 rs116099749 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 ACA C,G 8.238e-06 8:140665034 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003516040 intron_variant 0.931803 0.14528 0.04337 0.099367 0.672639110251624 0.0682425 0.999992957786805 TRUE NA ENSE00001169934_BRK ENSE00001169934 BRK 8 141674977 141675146 - 39 81 50 A,G; T,T NA NA NA AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTTTGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGCCAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC 140664877 140665047 NA NA NA NA NA NA AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTTTGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGCCAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC AAAAATCCTTTGTGTGTGTTCTAATATTGGTTGTGATTCTTGTCTGTTAGGAAGTCGGCTTGGCCCTGAGGACATTATTGGCCACTGTGGATGAGACCATTCCCCTCCTACCAGCCAGCACCCACCGAGAGGTAGGGCACAATCTTCCCCTTGCAGCCCTCTGTGACAGC control 194 43 0 0 0 NA NA NA NA NA NA NA 0.878415986536062 0.815848187244979 NA NA NA NA NA 0.847132086890521 NA NA NA NA NA NA NA NA NA NA PTK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTK2 NA NA NA ENSG00000169398 ENSE00003516040 NA NA NA NA NA NA NA 0.999992957786805 TRUE NA ENSE00001169949_000 ENSE00001169949 000 15 93470427 93470596 + 47 87 36 NA NA NA NA NA GTTTAAATGCATGCCCTTAAAACATTTTTTCCTTACCTCTTCCTTAATATTAAATCGCGATGGTTCTTGTCTGCTTCGGTTTGACCGCCTGACCCCATAAACATCAGGATATTCTTCCCACATCTGTAAAATTAAGAGACCACGCATTAATCTTTTTTCTTGACCCCCAT 92927196 92927366 NA NA NA NA NA NA ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC natural NA NA NA NA NA 1621 1599 0.952394232925576 0.996918910119052 0.974656571522314 NA NA 0.952394232925576 0.996918910119052 NA NA 0 0 NA 0.974656571522314 NA 0 NA FALSE NA NA NA NA NA NA CHD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHD2 NA NA NA ENSG00000173575 ENSE00003459914 NA NA NA NA NA NA NA 0.999999998845422 TRUE NA ENSE00001169965_000 ENSE00001169965 000 10 74776551 74776720 - 53 54 63 NA NA NA NA NA AGATTTTTTTTGAATAGTAATCTTTATAGTTCTTTTCTTTCATGCTTTGTGTCTTTCCTTCAGGTAGCAAATTATGGAGTTGGAGGACAGTATGAACCCCATTTTGACTTTGCACGGGTAAGTGAAAAAGAAATGGAGAAATTCACTGAGGCTTATGCATTACATTGTTT 73016792 73016962 NA NA NA NA NA NA AGATTTTTTTTGAATAGTAATCTTTATAGTTCTTTTCTTTCATGCTTTGTGTCTTTCCTTCAGGTAGCAAATTATGGAGTTGGAGGACAGTATGAACCCCATTTTGACTTTGCACGGGTAAGTGAAAAAGAAATGGAGAAATTCACTGAGGCTTATGCATTACATTGTTT AGATTTTTTTTGAATAGTAATCTTTATAGTTCTTTTCTTTCATGCTTTGTGTCTTTCCTTCAGGTAGCAAATTATGGAGTTGGAGGACAGTATGAACCCCATTTTGACTTTGCACGGGTAAGTGAAAAAGAAATGGAGAAATTCACTGAGGCTTATGCATTACATTGTTT natural NA NA NA NA NA 1124 1149 0.991845189900071 0.994977768354225 0.993411479127148 NA NA 0.991845189900071 0.994977768354225 NA NA 0 0 NA 0.993411479127148 NA 0 NA FALSE NA NA NA NA NA NA P4HA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P4HA1 NA NA NA ENSG00000122884 ENSE00001169965 NA NA NA NA NA NA NA 0.776076094613878 FALSE NA ENSE00001169965_010 ENSE00001169965 010 10 74776551 74776720 - 53 54 63 A G 74776697 1709 24 AGATTTTTTTTGAATAGTAATCTCTATAGTTCTTTTCTTTCATGCTTTGTGTCTTTCCTTCAGGTAGCAAATTATGGAGTTGGAGGACAGTATGAACCCCATTTTGACTTTGCACGGGTAAGTGAAAAAGAAATGGAGAAATTCACTGAGGCTTATGCATTACATTGTTT 73016792 73016962 73016938 73016939 73016939 upstr_intron -40 -0.619047619047619 AGATTTTTTTTGAATAGTAATCTCTATAGTTCTTTTCTTTCATGCTTTGTGTCTTTCCTTCAGGTAGCAAATTATGGAGTTGGAGGACAGTATGAACCCCATTTTGACTTTGCACGGGTAAGTGAAAAAGAAATGGAGAAATTCACTGAGGCTTATGCATTACATTGTTT AGATTTTTTTTGAATAGTAATCTTTATAGTTCTTTTCTTTCATGCTTTGTGTCTTTCCTTCAGGTAGCAAATTATGGAGTTGGAGGACAGTATGAACCCCATTTTGACTTTGCACGGGTAAGTGAAAAAGAAATGGAGAAATTCACTGAGGCTTATGCATTACATTGTTT mutant NA NA NA NA NA 16 289 1 1 1 NA NA 0.991845189900071 0.994977768354225 NA NA 0.00815481009992913 0.00502223164577542 NA 0.993411479127148 NA 0.00658852087285228 NA FALSE NA 0.017 0.784 . intron_variant MODIFIER P4HA1 HGNC 8546 ENST00000307116 10/14 1 NA AAA A,G 1.648e-05 10:73016939 P4HA1 HGNC Symbol protein_coding 89757 ENSG00000122884 ENSE00001169965 intron_variant 0.134366 0.17046 0.14167 0.106106 0.583446777812953 0.0699399 0.776076094613878 FALSE 1.71195e-05 ENSE00001170395_000 ENSE00001170395 000 8 139728422 139728591 - 48 63 59 NA NA NA NA NA CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC 138716178 138716348 NA NA NA NA NA NA CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC natural 150 310 0.846337159716959 0.84641903638754 0.84637809805225 1396 894 0.740657657023738 0.821317934844218 0.780987795933978 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 0 0 0 0 0.84637809805225 0.780987795933978 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003616101 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001170395_001 ENSE00001170395 001 8 139728422 139728591 - 48 63 59 T A 139728436 2635 156 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGTACCTCGCCCATCTC 138716178 138716348 138716192 138716193 138716193 downstr_intron 34 1.72340425531915 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGTACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 19 99 0.95 0.95 0.95 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.209342342976262 0.128682065155782 0.84637809805225 0.780987795933978 NA 0.169012204066022 NA FALSE NA 0 -0.434 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 29/64 1 NA TTC T,A 8.491e-06 8:138716193 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 intron_variant 0.070226 0.1846 0.01248 0.061011 0.550199463966196 0.0497025 8.25832618148535e-32 FALSE 6.26582e-06 ENSE00001170395_003 ENSE00001170395 003 8 139728422 139728591 - 48 63 59 T G 139728441 2637 151 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACCCAGGAACCTCGCCCATCTC 138716178 138716348 138716197 138716198 138716198 downstr_intron 29 1.61702127659574 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACCCAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 678 320 0.781382771246148 0.793773341295185 0.787578056270666 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.0407251142224099 -0.027544593549033 0.84637809805225 0.780987795933978 NA 0.00659026033668841 NA FALSE NA 0 -1.01 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 29/64 1 NA GTG T,G 8.459e-06 8:138716198 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 intron_variant -0.510998 0.12477 0.0133 0.061011 0.340111323759501 0.0497025 8.25832618148535e-32 FALSE 6.0774e-06 ENSE00001170395_004 ENSE00001170395 004 8 139728422 139728591 - 48 63 59 T C 139728443 2638 149 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCGCACAGGAACCTCGCCCATCTC 138716178 138716348 138716199 138716200 138716200 downstr_intron 27 1.57446808510638 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCGCACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 433 200 0.8 0.8 0.8 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.0593423429762617 -0.0213179348442177 0.84637809805225 0.780987795933978 NA 0.019012204066022 NA FALSE NA 0 -0.299 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 29/64 rs562850140 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTG T,C 6.756e-05 8:138716200 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 intron_variant -0.102852 0.11318 0.01315 0.061011 0.404355019972546 0.0497025 8.25832618148535e-32 FALSE 6.60804e-05 ENSE00001170395_005 ENSE00001170395 005 8 139728422 139728591 - 48 63 59 C T 139728460 2639 132 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGACAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC 138716178 138716348 138716216 138716217 138716217 downstr_intron 10 1.21276595744681 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGACAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 505 348 0.905175069760478 0.973011298233785 0.939093183997131 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.164517412736739 0.151693363389567 0.84637809805225 0.780987795933978 NA 0.158105388063153 NA FALSE NA 0 -0.946 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 29/64 1 NA GCC C,T 8.349e-06 8:138716217 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 intron_variant 0.110802 0.13106 0.02152 0.061011 0.61896942882152 0.121026 8.25832618148535e-32 FALSE NA ENSE00001170395_006 ENSE00001170395 006 8 139728422 139728591 - 48 63 59 A T 139728464 2640 128 GAGATGGGCGAGGTTCCTGTGTGGGAGGAAGGAAGCTGCCACTCTTACCTGGTCTCCTTTCTCTCCTCTCACACCTGGGAAGCCTGGAGCCCCTGGGAGGCCTGCTTCTCCCTGTGAGAACAAAATATTCACAAGGCGTCAACAGGAAGGCTCTCCCAGGGGCCAAGCTG 138716178 138716348 138716220 138716221 138716221 downstr_intron 6 1.12765957446809 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGAGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 1561 517 0.71568690352533 0.800488960408051 0.758087931966691 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA -0.0249707534984079 -0.0208289744361668 0.84637809805225 0.780987795933978 NA -0.0228998639672874 NA FALSE NA 0.651 1.18 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 29/64 1 NA CAC A,T 8.333e-06 8:138716221 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 splice_region_variant -0.413977 0.2342 0.21003 0.061011 0.589224930460789 0.121026 8.25832618148535e-32 FALSE NA ENSE00001170395_008 ENSE00001170395 008 8 139728422 139728591 - 48 63 59 G T 139728500 2642 92 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTACCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC 138716178 138716348 138716256 138716257 138716257 exon -31 0.523809523809524 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTACCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 228 477 0.8 0.806366871411923 0.803183435705962 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.0593423429762617 -0.0149510634322946 0.84637809805225 0.780987795933978 NA 0.0221956397719836 NA FALSE NA 1 1.072 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 29/65 1 benign(0.145) NA GGA G,T 1.656e-05 8:138716257 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 missense_variant 2.432453 0.96303 0.73846 0.638212 0.964105615210185 0 8.25832618148535e-32 FALSE NA ENSE00001170395_009 ENSE00001170395 009 8 139728422 139728591 - 48 63 59 C A 139728514 2643 78 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCATGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC 138716178 138716348 138716270 138716271 138716271 exon 19 0.301587301587302 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCATGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 177 83 0.961719083113027 0.95 0.955859541556513 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.221061426089288 0.128682065155782 0.84637809805225 0.780987795933978 NA 0.174871745622535 NA FALSE NA 0.491 3.819 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 29/65 1 probably_damaging(1) NA CCT C,A 2.488e-05 8:138716271 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 missense_variant 4.998229 0.77652 0.74716 0.638212 0.968790707924146 0 8.25832618148535e-32 FALSE NA ENSE00001170395_011 ENSE00001170395 011 8 139728422 139728591 - 48 63 59 G A 139728535 2645 57 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCATAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC 138716178 138716348 138716291 138716292 138716292 upstr_intron -3 -0.0338983050847458 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCATAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 222 55 0.806512906127817 0.8 0.803256453063909 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.0658552491040791 -0.0213179348442177 0.84637809805225 0.780987795933978 NA 0.0222686571299307 NA FALSE NA 0.86 1.239 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 28/64 1 NA TGT G,A 8.357e-06 8:138716292 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 splice_region_variant 0.613526 0.95981 0.71474 0.061011 0.683332959904046 0.339914 8.25832618148535e-32 FALSE NA ENSE00001170395_012 ENSE00001170395 012 8 139728422 139728591 - 48 63 59 A G 139728543 2646 49 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTCGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC 138716178 138716348 138716299 138716300 138716300 upstr_intron -11 -0.169491525423729 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTCGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 94 1006 0.8 0.672516063705119 0.736258031852559 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.0593423429762618 -0.148801871139099 0.84637809805225 0.780987795933978 NA -0.0447297640814186 NA FALSE NA 0.166 2.864 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 28/64 1 NA CAA A,G 8.411e-06 8:138716300 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 intron_variant -0.06624 0.39616 0.21805 0.061011 0.624083290257447 0.922792 8.25832618148535e-32 FALSE NA ENSE00001170395_014 ENSE00001170395 014 8 139728422 139728591 - 48 63 59 C A 139728551 2648 41 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTTAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC 138716178 138716348 138716307 138716308 138716308 upstr_intron -19 -0.305084745762712 CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTTAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC CAGCTTGGCCCCTGGGAGAGCCTTCCTGTTGACGCCTTGTGAATATTTTGTTCTCACAGGGAGAAGCAGGCCTCCCAGGGGCTCCAGGCTTCCCAGGTGTGAGAGGAGAGAAAGGAGACCAGGTAAGTGTGGCAGCTTCCTTCCTCCCACACAGGAACCTCGCCCATCTC mutant NA NA NA NA NA 784 215 0.999608854708772 0.997665178171173 0.998637016439972 0.846337159716959 0.84641903638754 0.740657657023738 0.821317934844218 NA NA 0.258951197685034 0.176347243326955 0.84637809805225 0.780987795933978 NA 0.217649220505994 NA FALSE NA 0 0.672 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 28/64 1 NA TCA C,A 8.596e-06 8:138716308 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003616101 intron_variant 0.202401 0.41331 0.07127 0.061011 0.443169064435624 0.906909 8.25832618148535e-32 FALSE NA ENSE00001170794_000 ENSE00001170794 000 8 42814326 42814495 + 48 84 38 NA NA NA NA NA ATGTTTCAAAGAGGTGGTGCACAGAACAAATCTCTTACCTGCATATCCAGTTCATGGCATCTTTGAGCAATTTCTTCCTTTGCTGACAAAGCTTCATTTAGTTCCTCTGTAGTTTTCTTCAGCTGGTTAGAAACAAAGAGATAAACATTTTAATATGAAGTGGTAACAAT 42959182 42959352 NA NA NA NA NA NA ATTGTTACCACTTCATATTAAAATGTTTATCTCTTTGTTTCTAACCAGCTGAAGAAAACTACAGAGGAACTAAATGAAGCTTTGTCAGCAAAGGAAGAAATTGCTCAAAGATGCCATGAACTGGATATGCAGGTAAGAGATTTGTTCTGTGCACCACCTCTTTGAAACAT ATTGTTACCACTTCATATTAAAATGTTTATCTCTTTGTTTCTAACCAGCTGAAGAAAACTACAGAGGAACTAAATGAAGCTTTGTCAGCAAAGGAAGAAATTGCTCAAAGATGCCATGAACTGGATATGCAGGTAAGAGATTTGTTCTGTGCACCACCTCTTTGAAACAT natural NA NA NA NA NA 3859 5553 0.945120636069283 0.829157935760537 0.88713928591491 NA NA 0.945120636069283 0.829157935760537 NA NA 0 0 NA 0.88713928591491 NA 0 NA FALSE NA NA NA NA NA NA HOOK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HOOK3 NA NA NA ENSG00000168172 ENSE00003579306 NA NA NA NA NA NA NA 0.99999800538276 TRUE NA ENSE00001170794_004 ENSE00001170794 004 8 42814326 42814495 + 48 84 38 A G 42814425 1158 100 ATGTTTCAAAGAGGTGGTGCACAGAACAAATCTCTTACCTGCATATCCAGTTCATGGCATCTTTGAGCAACTTCTTCCTTTGCTGACAAAGCTTCATTTAGTTCCTCTGTAGTTTTCTTCAGCTGGTTAGAAACAAAGAGATAAACATTTTAATATGAAGTGGTAACAAT 42959182 42959352 42959281 42959282 42959282 exon -33 0.619047619047619 ATTGTTACCACTTCATATTAAAATGTTTATCTCTTTGTTTCTAACCAGCTGAAGAAAACTACAGAGGAACTAAATGAAGCTTTGTCAGCAAAGGAAGAAGTTGCTCAAAGATGCCATGAACTGGATATGCAGGTAAGAGATTTGTTCTGTGCACCACCTCTTTGAAACAT ATTGTTACCACTTCATATTAAAATGTTTATCTCTTTGTTTCTAACCAGCTGAAGAAAACTACAGAGGAACTAAATGAAGCTTTGTCAGCAAAGGAAGAAATTGCTCAAAGATGCCATGAACTGGATATGCAGGTAAGAGATTTGTTCTGTGCACCACCTCTTTGAAACAT mutant NA NA NA NA NA 58 282 1 0.802683105735155 0.901341552867577 NA NA 0.945120636069283 0.829157935760537 NA NA 0.0548793639307168 -0.0264748300253824 NA 0.88713928591491 NA 0.0142022669526672 NA FALSE NA 1 6.923 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HOOK3 HGNC 23576 ENST00000527306 8/16 1 NA AAT A,G 8.236e-06 8:42959282 HOOK3 HGNC Symbol protein_coding 133607 ENSG00000168172 ENSE00003579306 missense_variant 2.213343 0.9855 0.98723 0.706548 0.994214904268888 0 0.99999800538276 TRUE 8.12803e-06 ENSE00001170794_010 ENSE00001170794 010 8 42814326 42814495 + 48 84 38 C T 42814480 1164 155 ATGTTTCAAAGAGGTAGTGCACAGAACAAATCTCTTACCTGCATATCCAGTTCATGGCATCTTTGAGCAATTTCTTCCTTTGCTGACAAAGCTTCATTTAGTTCCTCTGTAGTTTTCTTCAGCTGGTTAGAAACAAAGAGATAAACATTTTAATATGAAGTGGTAACAAT 42959182 42959352 42959336 42959337 42959337 downstr_intron 23 1.62162162162162 ATTGTTACCACTTCATATTAAAATGTTTATCTCTTTGTTTCTAACCAGCTGAAGAAAACTACAGAGGAACTAAATGAAGCTTTGTCAGCAAAGGAAGAAATTGCTCAAAGATGCCATGAACTGGATATGCAGGTAAGAGATTTGTTCTGTGCACTACCTCTTTGAAACAT ATTGTTACCACTTCATATTAAAATGTTTATCTCTTTGTTTCTAACCAGCTGAAGAAAACTACAGAGGAACTAAATGAAGCTTTGTCAGCAAAGGAAGAAATTGCTCAAAGATGCCATGAACTGGATATGCAGGTAAGAGATTTGTTCTGTGCACCACCTCTTTGAAACAT mutant NA NA NA NA NA 497 213 1 1 1 NA NA 0.945120636069283 0.829157935760537 NA NA 0.0548793639307168 0.170842064239463 NA 0.88713928591491 NA 0.11286071408509 NA FALSE NA 0 -1.023 . intron_variant&non_coding_transcript_variant MODIFIER HOOK3 HGNC 23576 ENST00000527306 8/15 1 NA CCA C,T 2.471e-05 8:42959337 HOOK3 HGNC Symbol protein_coding 133607 ENSG00000168172 ENSE00003579306 intron_variant -0.066641 0.12544 0.01049 0.099367 0.260231917994484 0.155319 0.99999800538276 TRUE 1.22843e-05 ENSE00001170794_011 ENSE00001170794 011 8 42814326 42814495 + 48 84 38 T C 42814484 1165 159 ATGTTTCAAAGGGGTGGTGCACAGAACAAATCTCTTACCTGCATATCCAGTTCATGGCATCTTTGAGCAATTTCTTCCTTTGCTGACAAAGCTTCATTTAGTTCCTCTGTAGTTTTCTTCAGCTGGTTAGAAACAAAGAGATAAACATTTTAATATGAAGTGGTAACAAT 42959182 42959352 42959340 42959341 42959341 downstr_intron 27 1.72972972972973 ATTGTTACCACTTCATATTAAAATGTTTATCTCTTTGTTTCTAACCAGCTGAAGAAAACTACAGAGGAACTAAATGAAGCTTTGTCAGCAAAGGAAGAAATTGCTCAAAGATGCCATGAACTGGATATGCAGGTAAGAGATTTGTTCTGTGCACCACCCCTTTGAAACAT ATTGTTACCACTTCATATTAAAATGTTTATCTCTTTGTTTCTAACCAGCTGAAGAAAACTACAGAGGAACTAAATGAAGCTTTGTCAGCAAAGGAAGAAATTGCTCAAAGATGCCATGAACTGGATATGCAGGTAAGAGATTTGTTCTGTGCACCACCTCTTTGAAACAT mutant NA NA NA NA NA 38 2297 1 0.999081225231759 0.99954061261588 NA NA 0.945120636069283 0.829157935760537 NA NA 0.0548793639307168 0.169923289471222 NA 0.88713928591491 NA 0.112401326700969 NA FALSE NA 0 -0.117 . intron_variant&non_coding_transcript_variant MODIFIER HOOK3 HGNC 23576 ENST00000527306 8/15 1 NA CTC T,C 8.236e-06 8:42959341 HOOK3 HGNC Symbol protein_coding 133607 ENSG00000168172 ENSE00003579306 intron_variant 0.040758 0.15535 0.02613 0.099367 0.503085999236358 0.155319 0.99999800538276 TRUE NA ENSE00001171845_000 ENSE00001171845 000 3 48207096 48207265 - 30 99 41 NA NA NA NA NA CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 NA NA NA NA NA NA CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG natural 19 25 0.999551047168955 0.955158688562853 0.977354867865904 3045 4384 0.882747526253111 0.995271430980665 0.939009478616888 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 0 0 0 0 0.977354867865904 0.939009478616888 0 0 0 FALSE FALSE NA NA NA NA NA SNRPFP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25A NA NA NA ENSG00000164045 ENSE00003680580 NA NA NA NA NA NA NA 0.979698044533755 TRUE NA ENSE00001171845_001 ENSE00001171845 001 3 48207096 48207265 - 30 99 41 C T 48207106 900 160 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTACTGTAGAAGG 48165605 48165775 48165615 48165616 48165616 downstr_intron 20 1.68965517241379 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTACTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 168 1199 1 1 1 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.117252473746889 0.00472856901933527 0.977354867865904 0.939009478616888 NA 0.0609905213831122 NA FALSE NA 0 -0.364 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 rs371233624 1 NA T:0.0002 T:0 GCA C,T 8.236e-06 3:48165616 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 intron_variant 1.114824 0.10468 0.02001 0.156188 0.801512104350611 0.128316 0.979698044533755 TRUE NA ENSE00001171845_003 ENSE00001171845 003 3 48207096 48207265 - 30 99 41 C T 48207121 902 145 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATAGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165630 48165631 48165631 downstr_intron 5 1.17241379310345 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATAGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 33 160 0.807837604852434 0.824242015559827 0.816039810206131 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA -0.0749099214006763 -0.171029415420838 0.977354867865904 0.939009478616888 NA -0.122969668410757 NA FALSE NA 0.013 2.293 NA NA NA SNRPFP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:48165631 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 splice_region_variant 2.418049 0.96494 0.16715 0.156188 0.958998323396196 0.897854 0.979698044533755 TRUE 4.06633e-06 ENSE00001171845_004 ENSE00001171845 004 3 48207096 48207265 - 30 99 41 A G 48207122 903 144 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTACGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165631 48165632 48165632 downstr_intron 4 1.13793103448276 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTACGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 354 814 0.997828457155809 0.996094131435647 0.996961294295728 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.115080930902698 0.000822700454982228 0.977354867865904 0.939009478616888 NA 0.0579518156788402 NA FALSE NA 0.002 -0.346 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 1 NA CAT A,G 8.236e-06 3:48165632 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 splice_region_variant 1.897454 0.91357 0.12058 0.156188 0.818139170596953 0.568598 0.979698044533755 TRUE 4.06534e-06 ENSE00001171845_005 ENSE00001171845 005 3 48207096 48207265 - 30 99 41 T C 48207123 904 143 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTGTGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165632 48165633 48165633 downstr_intron 3 1.10344827586207 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTGTGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 996 711 0 0.00860121260896295 0.00430060630448147 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA -0.882747526253111 -0.986670218371702 0.977354867865904 0.939009478616888 NA -0.934708872312406 NA TRUE NA 0.791 1.005 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 1 NA ATA T,C 1.647e-05 3:48165633 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 splice_region_variant 1.643189 0.94133 0.4563 0.156188 0.82334008800937 0.573709 0.979698044533755 TRUE 1.21971e-05 ENSE00001171845_006 ENSE00001171845 006 3 48207096 48207265 - 30 99 41 C G 48207141 905 125 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGACGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165650 48165651 48165651 exon -16 0.848484848484849 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGACGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 470 423 1 0.999535658858186 0.999767829429093 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.117252473746889 0.00426422787752134 0.977354867865904 0.939009478616888 NA 0.0607583508122053 NA FALSE NA 0.604 -0.074 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 rs532141329 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CCT C,G 8.236e-06 3:48165651 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 missense_variant 3.146251 0.9659 0.82565 0.706548 0.987800652728913 0 0.979698044533755 TRUE 4.06369e-06 ENSE00001171845_007 ENSE00001171845 007 3 48207096 48207265 - 30 99 41 C T 48207143 906 123 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACAAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165652 48165653 48165653 exon -18 0.828282828282828 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACAAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 467 772 1 0.996524360536506 0.998262180268253 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.117252473746889 0.00125292955584111 0.977354867865904 0.939009478616888 NA 0.0592527016513651 NA FALSE NA 1 7.383 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 1 NA TCG C,T 8.236e-06 3:48165653 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 missense_variant 8.114869 0.99199 0.98916 0.706548 0.999165489641641 0 0.979698044533755 TRUE 1.21914e-05 ENSE00001171845_008 ENSE00001171845 008 3 48207096 48207265 - 30 99 41 G A 48207144 907 122 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATATGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165653 48165654 48165654 exon -19 0.818181818181818 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATATGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 174 143 0.987434150979867 0.993346118852642 0.990390134916255 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.104686624726756 -0.00192531212802249 0.977354867865904 0.939009478616888 NA 0.0513806562993668 NA FALSE NA 0.849 0.126 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 1 NA CGT G,A 4.942e-05 3:48165654 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 synonymous_variant 0.874151 0.92402 0.18705 0.706548 0.839496850512559 0 0.979698044533755 TRUE 4.47009e-05 ENSE00001171845_009 ENSE00001171845 009 3 48207096 48207265 - 30 99 41 G A 48207156 908 110 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATATCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165665 48165666 48165666 exon -31 0.696969696969697 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATATCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 79 29 1 1 1 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.117252473746889 0.00472856901933527 0.977354867865904 0.939009478616888 NA 0.0609905213831122 NA FALSE NA 1 1.036 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 1 NA GGT G,A 8.236e-06 3:48165666 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 synonymous_variant 0.73986 0.96925 0.88879 0.706548 0.838732821006402 0 0.979698044533755 TRUE 8.12704e-06 ENSE00001171845_012 ENSE00001171845 012 3 48207096 48207265 - 30 99 41 T C 48207185 911 81 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTGAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165694 48165695 48165695 exon 40 0.404040404040404 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTGAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 296 1027 0.99104830638734 0.930533836062114 0.960791071224727 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.10830078013423 -0.0647375949185504 0.977354867865904 0.939009478616888 NA 0.0217815926078396 NA FALSE NA 1 3.59 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 1 NA TTA T,C 1.647e-05 3:48165695 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 missense_variant 1.59719 0.97891 0.80751 0.706548 0.824993400050827 0 0.979698044533755 TRUE 4.06276e-06 ENSE00001171845_013 ENSE00001171845 013 3 48207096 48207265 - 30 99 41 G A 48207189 912 77 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTTATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165698 48165699 48165699 exon 36 0.363636363636364 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTTATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 286 497 1 1 1 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.117252473746889 0.00472856901933527 0.977354867865904 0.939009478616888 NA 0.0609905213831122 NA FALSE NA 0.998 0.714 rs143460181 downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 rs143460181 1 NA A:0.0002 A:0 TGA G,A 8.236e-06 3:48165699 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 synonymous_variant 1.389126 0.95791 0.82768 0.706548 0.851272616480632 0 0.979698044533755 TRUE 4.06283e-06 ENSE00001171845_014 ENSE00001171845 014 3 48207096 48207265 - 30 99 41 T C 48207193 913 73 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAGCCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165702 48165703 48165703 exon 32 0.323232323232323 CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAGCCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 257 1160 0.984636401785019 0.999440313988393 0.992038357886706 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.101888875531909 0.00416888300772811 0.977354867865904 0.939009478616888 NA 0.0530288792698183 NA FALSE NA 1 0.817 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 rs565583599 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GTT T,C 6.589e-05 3:48165703 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 missense_variant 0.512695 0.95961 0.84683 0.706548 0.931016191708497 0 0.979698044533755 TRUE 6.09419e-05 ENSE00001171845_017 ENSE00001171845 017 3 48207096 48207265 - 30 99 41 G A 48207243 916 23 CTGACGGTCAAAGTTGATTCTCTCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165752 48165753 48165753 upstr_intron -19 -0.439024390243902 CTGACGGTCAAAGTTGATTCTCTCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 198 828 1 0.994226097028027 0.997113048514013 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.117252473746889 -0.00104533395263795 0.977354867865904 0.939009478616888 NA 0.0581035698971256 NA FALSE NA 0 -0.407 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 1 NA GGG G,A 8.236e-06 3:48165753 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 intron_variant 0.38264 0.20525 0.04646 0.062308 0.60543983577263 0.0818641 0.979698044533755 TRUE 4.06263e-06 ENSE00001171845_018 ENSE00001171845 018 3 48207096 48207265 - 30 99 41 T A 48207249 917 17 CTGACGGTCAAAGTTGTTTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 48165758 48165759 48165759 upstr_intron -25 -0.585365853658537 CTGACGGTCAAAGTTGTTTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG mutant NA NA NA NA NA 600 295 0.983803727405631 1 0.991901863702816 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA 0.101056201152521 0.00472856901933527 0.977354867865904 0.939009478616888 NA 0.052892385085928 NA FALSE NA 0 1.898 . downstream_gene_variant MODIFIER SNRPFP4 HGNC 39667 ENST00000456366 1 NA ATC T,A 8.236e-06 3:48165759 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003680580 intron_variant 1.46671 0.45346 0.6287 0.062308 0.790567001066169 0.591688 0.979698044533755 TRUE 4.06243e-06 ENSE00001171845_BRK ENSE00001171845 BRK 3 48207096 48207265 - 30 99 41 A,G; T,T NA NA NA CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACTTATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGCCATGGATTCCTGAGACTTGCTGTAGAAGG 48165605 48165775 NA NA NA NA NA NA CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACTTATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGCCATGGATTCCTGAGACTTGCTGTAGAAGG CTGACGGTCAAAGTTGATTCTCCCTAATTTTCTCTCAACAGATGGCATCTGTTTTGAATGGCAAGTTTGCCAACCTCATTAAAGAGTTTGTTATCATCGACTGTCGATACCCATATGAATACGAGGGAGGCCACATCAAGGTATGGATTCCTGAGACTTGCTGTAGAAGG control NA NA NA NA NA 908 332 0.0033245728865992 0 0.0016622864432996 0.999551047168955 0.955158688562853 0.882747526253111 0.995271430980665 NA NA -0.879422953366512 -0.995271430980665 0.977354867865904 0.939009478616888 NA -0.937347192173588 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25A NA NA NA ENSG00000164045 ENSE00003680580 NA NA NA NA NA NA NA 0.979698044533755 TRUE NA ENSE00001171858_000 ENSE00001171858 000 3 48209306 48209475 - 30 99 41 NA NA NA NA NA TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 NA NA NA NA NA NA TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT natural 47 53 0.993217349449206 0.999902841185585 0.996560095317396 3171 2333 0.932791903992902 0.971249244521272 0.952020574257087 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 0 0 0 0 0.996560095317396 0.952020574257087 0 0 0 FALSE FALSE NA NA NA NA NA CDC25A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25A NA NA NA ENSG00000164045 ENSE00003588556 NA NA NA NA NA NA NA 0.979698044533755 TRUE NA ENSE00001171858_001 ENSE00001171858 001 3 48209306 48209475 - 30 99 41 C T 48209325 918 151 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAACAGAGCTGCTCTGGCAAGT 48167815 48167985 48167834 48167835 48167835 downstr_intron 11 1.37931034482759 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAACAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 499 289 1 0.996912577694528 0.998456288847264 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0672080960070983 0.0256633331732559 0.996560095317396 0.952020574257087 NA 0.0464357145901771 NA FALSE NA 0.018 0.019 . intron_variant MODIFIER CDC25A HGNC 1725 ENST00000302506 10/14 1 NA GCT C,T 8.236e-06 3:48167835 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 intron_variant 0.321464 0.13866 0.05821 0.156188 0.511668505547102 0.152421 0.979698044533755 TRUE 4.07146e-06 ENSE00001171858_002 ENSE00001171858 002 3 48209306 48209475 - 30 99 41 T C 48209327 919 149 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCGAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167836 48167837 48167837 downstr_intron 9 1.31034482758621 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCGAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 172 402 0.986358097660454 1 0.993179048830227 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0535661936675526 0.0287507554787277 0.996560095317396 0.952020574257087 NA 0.0411584745731401 NA FALSE NA 0.242 1.26 . intron_variant MODIFIER CDC25A HGNC 1725 ENST00000302506 10/14 1 NA TTG T,C 8.236e-06 3:48167837 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 intron_variant 0.793954 0.46118 0.09993 0.156188 0.791832894904944 0.166817 0.979698044533755 TRUE 4.07024e-06 ENSE00001171858_004 ENSE00001171858 004 3 48209306 48209475 - 30 99 41 G A 48209339 921 137 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCTAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167848 48167849 48167849 exon -4 0.96969696969697 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCTAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 257 51 0.991911609976963 1 0.995955804988481 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0591197059840611 0.0287507554787277 0.996560095317396 0.952020574257087 NA 0.0439352307313944 NA FALSE NA 0.902 -0.179 . synonymous_variant LOW CDC25A HGNC 1725 ENST00000302506 10/15 1 NA TGG G,A 1.647e-05 3:48167849 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 synonymous_variant 1.650747 0.96351 0.77001 0.706548 0.646291423811795 0 0.979698044533755 TRUE 1.22002e-05 ENSE00001171858_005 ENSE00001171858 005 3 48209306 48209475 - 30 99 41 A G 48209354 922 122 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTCATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167863 48167864 48167864 exon -19 0.818181818181818 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTCATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 104 135 1 1 1 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0672080960070983 0.0287507554787277 0.996560095317396 0.952020574257087 NA 0.047979425742913 NA FALSE NA 0.988 0.192 . synonymous_variant LOW CDC25A HGNC 1725 ENST00000302506 10/15 1 NA TAA A,G 8.236e-06 3:48167864 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 synonymous_variant 0.798883 0.96242 0.69811 0.706548 0.785893773213436 0 0.979698044533755 TRUE 4.06382e-06 ENSE00001171858_006 ENSE00001171858 006 3 48209306 48209475 - 30 99 41 T C 48209370 923 106 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAGTGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167879 48167880 48167880 exon -35 0.656565656565657 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAGTGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 532 2066 0.998990008672286 0.985408871817691 0.992199440244988 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0661981046793841 0.0141596272964187 0.996560095317396 0.952020574257087 NA 0.0401788659879014 NA FALSE NA 0.59 -0.142 . missense_variant MODERATE CDC25A HGNC 1725 ENST00000302506 10/15 rs373510424 1 tolerated(1) benign(0.001) NA ATT T,C 3.295e-05 3:48167880 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 missense_variant -0.179399 0.92991 0.2891 0.631515 0.402801480116332 0 0.979698044533755 TRUE 2.84389e-05 ENSE00001171858_007 ENSE00001171858 007 3 48209306 48209475 - 30 99 41 C A 48209374 924 102 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGTACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167883 48167884 48167884 exon -39 0.616161616161616 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGTACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 10 380 1 0.975103182365613 0.987551591182806 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0672080960070983 0.00385393784434063 0.996560095317396 0.952020574257087 NA 0.0355310169257195 NA FALSE NA 1 6.388 . missense_variant MODERATE CDC25A HGNC 1725 ENST00000302506 10/15 1 deleterious(0) possibly_damaging(0.54) NA TCC C,A 8.236e-06 3:48167884 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 missense_variant 6.890966 0.99295 0.99072 0.631515 0.991228840044095 0 0.979698044533755 TRUE 4.06279e-06 ENSE00001171858_009 ENSE00001171858 009 3 48209306 48209475 - 30 99 41 T C 48209397 926 79 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAGAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167906 48167907 48167907 exon 38 0.383838383838384 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAGAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 723 175 0.997176167189122 0.9977952403746 0.997485703781861 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0643842631962208 0.026545995853328 0.996560095317396 0.952020574257087 NA 0.0454651295247744 NA FALSE NA 0.349 0.857 . missense_variant MODERATE CDC25A HGNC 1725 ENST00000302506 10/15 rs202026442 1 tolerated(0.23) benign(0.008) C:0.0036 C:0 C:0 NA C:0 C:0 C:0.0184 TTT T,C 0.001581 3:48167907 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 missense_variant 2.314478 0.97487 0.79064 0.631515 0.996176652900173 0 0.979698044533755 TRUE 0.00167413 ENSE00001171858_010 ENSE00001171858 010 3 48209306 48209475 - 30 99 41 G A 48209399 927 77 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCTAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167908 48167909 48167909 exon 36 0.363636363636364 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCTAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 84 31 1 0.994863667242231 0.997431833621115 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0672080960070983 0.0236144227209587 0.996560095317396 0.952020574257087 NA 0.0454112593640285 NA FALSE NA 0.126 -0.918 NA NA NA CDC25A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:48167909 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 synonymous_variant 1.011809 0.29878 0.23291 0.631515 0.481423682156387 0 0.979698044533755 TRUE 3.25071e-05 ENSE00001171858_012 ENSE00001171858 012 3 48209306 48209475 - 30 99 41 G A 48209400 929 76 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCTCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167909 48167910 48167910 exon 35 0.353535353535354 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCTCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 400 202 0.99718857850307 0.967412516740078 0.982300547621574 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0643966745101683 -0.00383672778119415 0.996560095317396 0.952020574257087 NA 0.0302799733644871 NA FALSE NA 0.998 3.431 rs138476071 missense_variant MODERATE CDC25A HGNC 1725 ENST00000302506 10/15 rs138476071 1 tolerated(0.19) benign(0.201) NA A:0.0002 A:0 GGG G,A 8.236e-06 3:48167910 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 missense_variant 3.004724 0.80545 0.90259 0.631515 0.995942087599995 0 0.979698044533755 TRUE NA ENSE00001171858_014 ENSE00001171858 014 3 48209306 48209475 - 30 99 41 A G 48209407 931 69 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCACCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167916 48167917 48167917 exon 28 0.282828282828283 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCACCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 176 122 1 1 1 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0672080960070983 0.0287507554787277 0.996560095317396 0.952020574257087 NA 0.047979425742913 NA FALSE NA 0.072 1.516 . missense_variant MODERATE CDC25A HGNC 1725 ENST00000302506 10/15 1 tolerated(0.26) benign(0.005) NA GAT A,G 1.647e-05 3:48167917 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 missense_variant 1.182295 0.23119 0.01646 0.631515 0.976959600404092 0 0.979698044533755 TRUE 1.62538e-05 ENSE00001171858_016 ENSE00001171858 016 3 48209306 48209475 - 30 99 41 A G 48209412 933 64 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCCGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167921 48167922 48167922 exon 23 0.232323232323232 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCCGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 179 296 1 0.999871326402144 0.999935663201072 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0672080960070983 0.0286220818808715 0.996560095317396 0.952020574257087 NA 0.0479150889439849 NA FALSE NA 0.036 1.601 . missense_variant MODERATE CDC25A HGNC 1725 ENST00000302506 10/15 rs551768306 1 deleterious(0.04) benign(0.001) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAG A,G 1.647e-05 3:48167922 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 missense_variant 0.844019 0.21025 0.08209 0.67177 0.88344687345209 0 0.979698044533755 TRUE 1.21905e-05 ENSE00001171858_017 ENSE00001171858 017 3 48209306 48209475 - 30 99 41 G A 48209414 934 62 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCTCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167923 48167924 48167924 exon 21 0.212121212121212 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCTCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 150 718 0.99972532099794 0.999946978671123 0.999836149834532 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.066933417005038 0.0286977341498511 0.996560095317396 0.952020574257087 NA 0.0478155755774445 NA FALSE NA 0.991 2.092 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:48167924 CDC25A HGNC Symbol protein_coding 31256 ENSG00000164045 ENSE00003588556 synonymous_variant 1.014206 0.26633 0.66526 0.67177 0.552419468031481 0 0.979698044533755 TRUE 1.21903e-05 ENSE00001171858_018 ENSE00001171858 018 3 48209306 48209475 - 30 99 41 G C 48209414 935 62 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCGCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 48167923 48167924 48167924 exon 21 0.212121212121212 TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCGCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT mutant NA NA NA NA NA 675 10 0.997659915365171 1 0.998829957682585 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 NA NA 0.0648680113722689 0.0287507554787277 0.996560095317396 0.952020574257087 NA 0.0468093834254983 NA FALSE NA 0.991 2.092 NA NA NA CDC25A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25A NA NA NA ENSG00000164045 ENSE00003588556 synonymous_variant 0.340449 0.30149 0.76803 0.67177 0.649630120242119 0 0.979698044533755 TRUE 8.12684e-06 ENSE00001171858_BRK ENSE00001171858 BRK 3 48209306 48209475 - 30 99 41 A,G; T,T NA NA NA TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACTTACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGCCAATTGCAAGCAGAGCTGCTCTGGCAAGT 48167815 48167985 NA NA NA NA NA NA TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACTTACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGCCAATTGCAAGCAGAGCTGCTCTGGCAAGT TCAGAACCCTTGTCTCATTCTCTACCTTTGATTTGTTACAGACTCTTCATCAGTCTTTATCCCTGGCATCTTCCCCCAAAGGAACCATTGAGAACATTTTGGACAATGACCCAAGGGACCTTATAGGAGACTTCTCCAAGGTAATTGCAAGCAGAGCTGCTCTGGCAAGT control 20 54 0 0 0 2016 38 0.00134210563331174 0.00854817734584692 0.00494514148957933 0.993217349449206 0.999902841185585 0.932791903992902 0.971249244521272 -0.993217349449206 -0.999902841185585 -0.93144979835959 -0.962701067175425 0.996560095317396 0.952020574257087 -0.996560095317396 -0.947075432767508 0.0494846625498879 TRUE TRUE NA NA NA NA NA CDC25A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25A NA NA NA ENSG00000164045 ENSE00003588556 NA NA NA NA NA NA NA 0.979698044533755 TRUE NA ENSE00001173432_000 ENSE00001173432 000 18 44030625 44030794 + 42 96 32 NA NA NA NA NA GACTATGCAGGCTGGCCTGCTGGCAGACCCACCTTCTTATACTTGTGGGGGAAGGTGAACCTCTCAATGGTGTTCTGTACAGCTCCCCGAGTCACATTACCCAACCTGTCCTCGAGCTGCAGCAGCTCCTGGAAAGAGAAAAATGTGCACATGTGTGCTCAGCATGTATA 46450661 46450831 NA NA NA NA NA NA TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC natural 649 1116 0.848309011570029 0.834555821134756 0.841432416352393 1395 876 0.786432141893192 0.863324841208338 0.824878491550765 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 0 0 0 0 0.841432416352393 0.824878491550765 0 0 0 FALSE FALSE NA NA NA NA NA RNF165 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF165 NA NA NA ENSG00000141622 ENSE00003576047 NA NA NA NA NA NA NA 0.971099075288373 TRUE NA ENSE00001173432_001 ENSE00001173432 001 18 44030625 44030794 + 42 96 32 G A 44030645 407 21 GACTATGCAGGCTGGCCTGCTGGCAGACCCACCTTCTTATACTTGTGGGGGAAGGTGAACCTCTCAATGGTGTTCTGTACAGCTCCCCGAGTCACATTACCCAACCTGTCCTCGAGCTGCAGCAGCTCCTGGAAAGAGAAAAATGTGCATATGTGTGCTCAGCATGTATA 46450661 46450831 46450681 46450682 46450682 upstr_intron -22 -0.5 TATACATGCTGAGCACACATATGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant 33 70 0.85 0.85 0.85 NA NA NA NA NA 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 0.00169098842997062 0.0154441788652436 NA NA 0.841432416352393 0.824878491550765 0.00856758364760712 NA NA NA FALSE 0.002 0.549 . intron_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 2/3 1 NA TGT G,A 3.295e-05 18:46450682 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 intron_variant 0.220234 0.22977 0.06052 0.062308 0.699869399522219 0.0851235 0.971099075288373 TRUE 2.44204e-05 ENSE00001173432_003 ENSE00001173432 003 18 44030625 44030794 + 42 96 32 C T 44030650 409 26 TATACATGCTGAGCACACATGTGCATATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC 46450661 46450831 46450686 46450687 46450687 upstr_intron -17 -0.380952380952381 TATACATGCTGAGCACACATGTGCATATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant 15 17 0.812572161707284 0.85 0.831286080853642 NA NA NA NA NA 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 -0.0357368498627457 0.0154441788652436 NA NA 0.841432416352393 0.824878491550765 -0.010146335498751 NA NA NA FALSE 0 -0.081 . intron_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 2/3 1 NA ACA C,T 8.236e-06 18:46450687 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 intron_variant 0.124901 0.20189 0.01231 0.062308 0.589234290994117 0.0862078 0.971099075288373 TRUE 4.06722e-06 ENSE00001173432_005 ENSE00001173432 005 18 44030625 44030794 + 42 96 32 C T 44030664 411 40 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCTAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC 46450661 46450831 46450700 46450701 46450701 upstr_intron -3 -0.0476190476190476 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCTAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant 11 11 0 0 0 NA NA NA NA NA 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 -0.848309011570029 -0.834555821134756 NA NA 0.841432416352393 0.824878491550765 -0.841432416352393 NA NA NA TRUE 0.49 0.836 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RNF165 HGNC 31696 ENST00000592777 2/3 1 NA CCA C,T 8.236e-06 18:46450701 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 splice_region_variant 1.42371 0.97383 0.6748 0.062308 0.808691249890838 0.844769 0.971099075288373 TRUE 4.06385e-06 ENSE00001173432_006 ENSE00001173432 006 18 44030625 44030794 + 42 96 32 C T 44030670 412 46 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGTTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC 46450661 46450831 46450706 46450707 46450707 exon 4 0.0416666666666667 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGTTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant NA NA NA NA NA 77 77 0.969124308229945 0.999005344428641 0.984064826329293 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 NA NA 0.182692166336753 0.135680503220303 0.841432416352393 0.824878491550765 NA 0.159186334778528 NA FALSE NA 1 4.972 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/4 1 NA GCT C,T 8.236e-06 18:46450707 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 synonymous_variant 1.290377 0.9904 0.95951 0.562547 0.802950424912279 0 0.971099075288373 TRUE 8.12499e-06 ENSE00001173432_008 ENSE00001173432 008 18 44030625 44030794 + 42 96 32 A C 44030698 414 74 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTACTGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC 46450661 46450831 46450734 46450735 46450735 exon 32 0.333333333333333 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTACTGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant NA NA NA NA NA 27 114 0.95 0.958577388758233 0.954288694379116 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 NA NA 0.163567858106808 0.0952525475498949 0.841432416352393 0.824878491550765 NA 0.129410202828352 NA FALSE NA 0.996 2.616 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/4 1 NA AAT A,C 8.236e-06 18:46450735 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 missense_variant 1.446104 0.97797 0.89323 0.562547 0.982946271065934 0 0.971099075288373 TRUE 4.06187e-06 ENSE00001173432_011 ENSE00001173432 011 18 44030625 44030794 + 42 96 32 G A 44030707 417 83 GACTATGCAGGCTGGCCTGCTGGCAGACCCACCTTCTTATACTTGTGGGGGAAGGTGAACCTCTCAATGGTGTTCTGTACAGCTCCCTGAGTCACATTACCCAACCTGTCCTCGAGCTGCAGCAGCTCCTGGAAAGAGAAAAATGTGCACATGTGTGCTCAGCATGTATA 46450661 46450831 46450743 46450744 46450744 exon 41 0.427083333333333 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCAGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant 47 22 0 0 0 NA NA NA NA NA 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 -0.848309011570029 -0.834555821134756 NA NA 0.841432416352393 0.824878491550765 -0.841432416352393 NA NA NA TRUE 1 7.968 rs140779573 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/4 rs140779573 1 NA A:0 A:0.0001 CGG G,A 8.236e-06 18:46450744 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 missense_variant 5.796907 0.99602 0.9881 0.562547 0.99952742676301 0 0.971099075288373 TRUE NA ENSE00001173432_012 ENSE00001173432 012 18 44030625 44030794 + 42 96 32 C G 44030726 418 102 GACTATGCAGGCTGGCCTGCTGGCAGACCCACCTTCTTATACTTGTGGGGGAAGGTGAACCTCTCAATCGTGTTCTGTACAGCTCCCCGAGTCACATTACCCAACCTGTCCTCGAGCTGCAGCAGCTCCTGGAAAGAGAAAAATGTGCACATGTGTGCTCAGCATGTATA 46450661 46450831 46450762 46450763 46450763 exon -37 0.625 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACGATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant NA NA NA NA NA 162 283 0.881803850803604 0.829819287171841 0.855811568987723 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 NA NA 0.0953717089104124 -0.0335055540364971 0.841432416352393 0.824878491550765 NA 0.0309330774369576 NA FALSE NA 1 2.16 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/4 rs551516304 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CCA C,G 8.236e-06 18:46450763 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 synonymous_variant 1.075246 0.98572 0.94556 0.562547 0.69089678799115 0 0.971099075288373 TRUE 4.06283e-06 ENSE00001173432_013 ENSE00001173432 013 18 44030625 44030794 + 42 96 32 T C 44030742 419 118 GACTATGCAGGCTGGCCTGCTGGCAGACCCACCTTCTTATACTTGTGGGGGAGGGTGAACCTCTCAATGGTGTTCTGTACAGCTCCCCGAGTCACATTACCCAACCTGTCCTCGAGCTGCAGCAGCTCCTGGAAAGAGAAAAATGTGCACATGTGTGCTCAGCATGTATA 46450661 46450831 46450778 46450779 46450779 exon -21 0.791666666666667 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCCTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant NA NA NA NA NA 18 284 0.8 0.8 0.8 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 NA NA 0.0135678581068083 -0.0633248412083381 0.841432416352393 0.824878491550765 NA -0.0248784915507649 NA FALSE NA 1 8.042 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/4 1 NA CTT T,C 1.647e-05 18:46450779 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 missense_variant 5.350203 0.99433 0.98349 0.562547 0.992381808425712 0 0.971099075288373 TRUE 1.21937e-05 ENSE00001173432_014 ENSE00001173432 014 18 44030625 44030794 + 42 96 32 C T 44030747 420 123 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCTCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC 46450661 46450831 46450783 46450784 46450784 exon -16 0.84375 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCTCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant 379 768 0.848552402886883 0.85 0.849276201443441 132 12 0.95 0.95 0.95 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 0.000243391316853581 0.0154441788652436 0.163567858106808 0.0866751587916618 0.841432416352393 0.824878491550765 0.00784378509104861 0.125121508449235 0.117277723358186 FALSE FALSE 0.953 0.084 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/4 1 NA CCC C,T 8.236e-06 18:46450784 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 synonymous_variant 1.971491 0.9731 0.72337 0.562547 0.651711189922427 0 0.971099075288373 TRUE NA ENSE00001173432_015 ENSE00001173432 015 18 44030625 44030794 + 42 96 32 C T 44030748 421 124 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCTACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC 46450661 46450831 46450784 46450785 46450785 exon -15 0.854166666666667 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCTACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant 11 16 0.947379788586911 0.85 0.898689894293456 NA NA NA NA NA 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 0.0990707770168821 0.0154441788652436 NA NA 0.841432416352393 0.824878491550765 0.0572574779410628 NA NA NA FALSE 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/4 1 NA CCA C,T 8.236e-06 18:46450785 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 missense_variant 5.355438 0.99592 0.98473 0.562547 0.982310933485129 0 0.971099075288373 TRUE 4.0659e-06 ENSE00001173432_016 ENSE00001173432 016 18 44030625 44030794 + 42 96 32 G T 44030771 422 147 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTTCCAGCAGGCCAGCCTGCATAGTC 46450661 46450831 46450807 46450808 46450808 downstr_intron 9 1.29032258064516 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTTCCAGCAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant NA NA NA NA NA 383 364 0.958909476268496 0.997212988424954 0.978061232346725 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 NA NA 0.172477334375305 0.133888147216615 0.841432416352393 0.824878491550765 NA 0.15318274079596 NA FALSE NA 0 0.049 . intron_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/3 1 NA TGC G,T 8.237e-06 18:46450808 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 intron_variant 1.886119 0.2523 0.05939 0.099367 0.805130548039963 0.30585 0.971099075288373 TRUE 8.18485e-06 ENSE00001173432_017 ENSE00001173432 017 18 44030625 44030794 + 42 96 32 C G 44030776 423 152 GACTATGCAGGCTGGCCTCCTGGCAGACCCACCTTCTTATACTTGTGGGGGAAGGTGAACCTCTCAATGGTGTTCTGTACAGCTCCCCGAGTCACATTACCCAACCTGTCCTCGAGCTGCAGCAGCTCCTGGAAAGAGAAAAATGTGCACATGTGTGCTCAGCATGTATA 46450661 46450831 46450812 46450813 46450813 downstr_intron 14 1.45161290322581 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGGAGGCCAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant NA NA NA NA NA 595 443 0.8 0.796067685628031 0.798033842814015 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 NA NA 0.0135678581068083 -0.0672571555803076 0.841432416352393 0.824878491550765 NA -0.0268446487367497 NA FALSE NA 0.006 0.367 . intron_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/3 1 NA GCA C,G 8.237e-06 18:46450813 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 intron_variant 1.815811 0.17619 0.02217 0.099367 0.806573467594237 0.289973 0.971099075288373 TRUE 4.09313e-06 ENSE00001173432_018 ENSE00001173432 018 18 44030625 44030794 + 42 96 32 C A 44030781 424 157 GACTATGCAGGCTTGCCTGCTGGCAGACCCACCTTCTTATACTTGTGGGGGAAGGTGAACCTCTCAATGGTGTTCTGTACAGCTCCCCGAGTCACATTACCCAACCTGTCCTCGAGCTGCAGCAGCTCCTGGAAAGAGAAAAATGTGCACATGTGTGCTCAGCATGTATA 46450661 46450831 46450817 46450818 46450818 downstr_intron 19 1.61290322580645 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCAAGCCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant 148 190 0.880335920805866 0.85 0.865167960402933 NA NA NA NA NA 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 0.0320269092358364 0.0154441788652436 NA NA 0.841432416352393 0.824878491550765 0.02373554405054 NA NA NA FALSE 0 -0.359 . intron_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/3 1 NA CCA C,A 8.236e-06 18:46450818 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 intron_variant 2.085948 0.22199 0.06477 0.062308 0.869815101830517 0.289973 0.971099075288373 TRUE 4.10317e-06 ENSE00001173432_019 ENSE00001173432 019 18 44030625 44030794 + 42 96 32 C G 44030784 425 160 GACTATGCAGCCTGGCCTGCTGGCAGACCCACCTTCTTATACTTGTGGGGGAAGGTGAACCTCTCAATGGTGTTCTGTACAGCTCCCCGAGTCACATTACCCAACCTGTCCTCGAGCTGCAGCAGCTCCTGGAAAGAGAAAAATGTGCACATGTGTGCTCAGCATGTATA 46450661 46450831 46450820 46450821 46450821 downstr_intron 22 1.70967741935484 TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGGCTGCATAGTC TATACATGCTGAGCACACATGTGCACATTTTTCTCTTTCCAGGAGCTGCTGCAGCTCGAGGACAGGTTGGGTAATGTGACTCGGGGAGCTGTACAGAACACCATTGAGAGGTTCACCTTCCCCCACAAGTATAAGAAGGTGGGTCTGCCAGCAGGCCAGCCTGCATAGTC mutant NA NA NA NA NA 89 38 0.8 0.901385430726096 0.850692715363048 0.848309011570029 0.834555821134756 0.786432141893192 0.863324841208338 NA NA 0.0135678581068083 0.038060589517758 0.841432416352393 0.824878491550765 NA 0.0258142238122832 NA FALSE NA 0.004 0.471 . intron_variant&non_coding_transcript_variant MODIFIER RNF165 HGNC 31696 ENST00000592777 3/3 1 NA GCC C,G 4.942e-05 18:46450821 RNF165 HGNC Symbol protein_coding 136331 ENSG00000141622 ENSE00003576047 intron_variant 2.101158 0.29213 0.20801 0.062308 0.865715854523925 0.235944 0.971099075288373 TRUE 2.88085e-05 ENSE00001173581_000 ENSE00001173581 000 18 42449132 42449301 + 63 54 53 NA NA NA NA NA ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 NA NA NA NA NA NA TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT natural 63 81 0.999734718824479 0.995199525162857 0.997467121993668 1675 1768 0.995800782915454 0.928241439905109 0.962021111410281 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 0 0 0 0 0.997467121993668 0.962021111410281 0 0 0 FALSE FALSE NA NA NA NA NA SETBP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SETBP1 NA NA NA ENSG00000152217 ENSE00001173581 NA NA NA NA NA NA NA 0.999002929381036 TRUE NA ENSE00001173581_001 ENSE00001173581 001 18 42449132 42449301 + 63 54 53 T C 42449148 372 17 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCGTACAGTATCCCCACGA 44869166 44869336 44869182 44869183 44869183 upstr_intron -47 -0.73015873015873 TCGTGGGGATACTGTACGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 89 57 1 1 1 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.00419921708454585 0.0717585600948911 0.997467121993668 0.962021111410281 NA 0.0379788885897185 NA FALSE NA 0 -0.135 . intron_variant MODIFIER SETBP1 HGNC 15573 ENST00000282030 2/5 1 NA ATG T,C 8.237e-06 18:44869183 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 intron_variant 0.354692 0.15613 0.03518 0.106106 0.619074789471149 0.0840473 0.999002929381036 TRUE 4.07997e-06 ENSE00001173581_003 ENSE00001173581 003 18 42449132 42449301 + 63 54 53 T A 42449162 374 31 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACTCTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869196 44869197 44869197 upstr_intron -33 -0.507936507936508 TCGTGGGGATACTGTATGCAAACTGAAAAGAGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant 24 63 0.96809346569075 0.971781722450489 0.96993759407062 10 117 1 1 1 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 -0.0316412531337295 -0.0234178027123678 0.00419921708454585 0.0717585600948911 0.997467121993668 0.962021111410281 -0.0275295279230486 0.0379788885897185 0.0655084165127671 FALSE FALSE 0 -0.164 . intron_variant MODIFIER SETBP1 HGNC 15573 ENST00000282030 2/5 1 NA GTG T,A 8.237e-06 18:44869197 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 intron_variant 0.827737 0.17742 0.04376 0.106106 0.747197471183946 0.0840473 0.999002929381036 TRUE 4.07176e-06 ENSE00001173581_004 ENSE00001173581 004 18 42449132 42449301 + 63 54 53 G A 42449169 375 38 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTTAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869203 44869204 44869204 upstr_intron -26 -0.396825396825397 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTAAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 333 51 0.961212527272816 0.993746665122786 0.977479596197801 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA -0.0345882556426379 0.0655052252176767 0.997467121993668 0.962021111410281 NA 0.0154584847875194 NA FALSE NA 0.779 0.83 . intron_variant MODIFIER SETBP1 HGNC 15573 ENST00000282030 2/5 1 NA TGA G,A 3.295e-05 18:44869204 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 intron_variant 0.144997 0.19441 0.00589 0.106106 0.621595285633746 0.0840473 0.999002929381036 TRUE 6.51195e-05 ENSE00001173581_006 ENSE00001173581 006 18 42449132 42449301 + 63 54 53 G A 42449204 377 73 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGTTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869238 44869239 44869239 exon 10 0.185185185185185 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAACCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 744 547 0.999111603474855 0.908472073377411 0.953791838426133 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.0033108205594008 -0.0197693665276976 0.997467121993668 0.962021111410281 NA -0.00822927298414838 NA FALSE NA 1 0.915 . missense_variant MODERATE SETBP1 HGNC 15573 ENST00000282030 3/6 COSM988367&COSM1589430 1 tolerated(0.55) benign(0.011) NA AGC G,A 8.237e-06 18:44869239 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 missense_variant 2.218454 0.95421 0.52543 0.615465 0.988219791260938 0 0.999002929381036 TRUE 8.132e-06 ENSE00001173581_007 ENSE00001173581 007 18 42449132 42449301 + 63 54 53 C T 42449206 378 75 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTAGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869240 44869241 44869241 exon 12 0.222222222222222 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCTAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 57 467 1 0.999098518595544 0.999549259297772 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.00419921708454585 0.0708570786904354 0.997467121993668 0.962021111410281 NA 0.0375281478874906 NA FALSE NA 1 3.499 . synonymous_variant LOW SETBP1 HGNC 15573 ENST00000282030 3/6 1 NA CCA C,T 8.238e-06 18:44869241 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 synonymous_variant 1.8177 0.97936 0.83287 0.562547 0.723547006256169 0 0.999002929381036 TRUE NA ENSE00001173581_009 ENSE00001173581 009 18 42449132 42449301 + 63 54 53 C T 42449217 380 86 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTACAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869251 44869252 44869252 exon 23 0.425925925925926 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGTAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 16 880 1 0.997529936492268 0.998764968246134 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.00419921708454585 0.069288496587159 0.997467121993668 0.962021111410281 NA 0.0367438568358524 NA FALSE NA 1 3.34 rs141225535 missense_variant MODERATE SETBP1 HGNC 15573 ENST00000282030 3/6 rs141225535 1 tolerated(0.27) benign(0.003) NA T:0 T:0.0001 GCA C,T 1.647e-05 18:44869252 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 missense_variant 2.545099 0.97729 0.81444 0.554377 0.811367220127698 0 0.999002929381036 TRUE 8.13253e-06 ENSE00001173581_011 ENSE00001173581 011 18 42449132 42449301 + 63 54 53 C T 42449243 382 112 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGACTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869277 44869278 44869278 exon -6 0.907407407407407 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGTCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 465 295 0.999670291205289 1 0.999835145602645 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.00386950828983534 0.0717585600948911 0.997467121993668 0.962021111410281 NA 0.0378140341923632 NA FALSE NA 1 2.176 . missense_variant MODERATE SETBP1 HGNC 15573 ENST00000282030 3/6 COSM1523015&COSM1523017 1 tolerated(0.68) benign(0.053) NA GCC C,T 8.236e-06 18:44869278 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 missense_variant 1.694192 0.96849 0.70202 0.554377 0.782918156957335 0 0.999002929381036 TRUE 8.1318e-06 ENSE00001173581_012 ENSE00001173581 012 18 42449132 42449301 + 63 54 53 A G 42449245 383 114 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGCGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869279 44869280 44869280 exon -4 0.944444444444444 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCGCAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 979 242 1 0.999345915535499 0.999672957767749 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.00419921708454585 0.0711044756303899 0.997467121993668 0.962021111410281 NA 0.0376518463574679 NA FALSE NA 1 1.915 . synonymous_variant LOW SETBP1 HGNC 15573 ENST00000282030 3/6 1 NA CAC A,G 8.236e-06 18:44869280 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 synonymous_variant 0.203576 0.96407 0.60572 0.554377 0.79789438101379 0 0.999002929381036 TRUE 4.06593e-06 ENSE00001173581_013 ENSE00001173581 013 18 42449132 42449301 + 63 54 53 T A 42449255 384 124 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAGCATCAGTGGTACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869289 44869290 44869290 downstr_intron 7 1.13461538461538 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTACCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 922 639 0.997452166732675 1 0.998726083366338 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.0016513838172213 0.0717585600948911 0.997467121993668 0.962021111410281 NA 0.0367049719560562 NA FALSE NA 0.693 0.707 . splice_region_variant&intron_variant LOW SETBP1 HGNC 15573 ENST00000282030 3/5 1 NA TTC T,A 1.647e-05 18:44869290 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 splice_region_variant 0.51415 0.70058 0.2264 0.062308 0.653245032892183 0.296447 0.999002929381036 TRUE 8.13259e-06 ENSE00001173581_014 ENSE00001173581 014 18 42449132 42449301 + 63 54 53 C T 42449265 385 134 ACTCTGGATCATTTTACTCTTCCAAACTTCTTAAAAACATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869299 44869300 44869300 downstr_intron 17 1.32692307692308 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGTTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 169 233 1 1 1 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.00419921708454585 0.0717585600948911 0.997467121993668 0.962021111410281 NA 0.0379788885897185 NA FALSE NA 0 -0.955 . intron_variant MODIFIER SETBP1 HGNC 15573 ENST00000282030 3/5 1 NA GCT C,T 8.236e-06 18:44869300 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 intron_variant 0.183978 0.13817 0.01064 0.062308 0.40563495183341 0.046323 0.999002929381036 TRUE 4.06818e-06 ENSE00001173581_015 ENSE00001173581 015 18 42449132 42449301 + 63 54 53 A C 42449273 386 142 ACTCTGGATCATTTTACTCTTCCAAACTGCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869307 44869308 44869308 downstr_intron 25 1.48076923076923 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGCAGTTTGGAAGAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 510 215 1 0.993169951007457 0.996584975503729 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.00419921708454585 0.0649285111023485 0.997467121993668 0.962021111410281 NA 0.0345638640934472 NA FALSE NA 0 -0.276 rs58524154 intron_variant MODIFIER SETBP1 HGNC 15573 ENST00000282030 3/5 rs58524154 1 C:0.0024 C:0.0076 C:0.0029 NA C:0 C:0 C:0 C:0.0093 C:0 GAA A,C 0.0007907 18:44869308 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 intron_variant -0.32611 0.15265 0.01342 0.062308 0.479961168927222 0.046323 0.999002929381036 TRUE 0.000695959 ENSE00001173581_016 ENSE00001173581 016 18 42449132 42449301 + 63 54 53 G A 42449283 387 152 ACTCTGGATCATTTTACTTTTCCAAACTTCTTAAAAGCATCAGTGGAACTTACCTGTGGCTGAAATCCTTTGAGGTCACTGGCTGCAAGGTCACTGGCTGTGAGGAGCTGCAAAAGAATAAAGAAATTTTCTCAGTGACACTTTTCAGTTTGCATACAGTATCCCCACGA 44869166 44869336 44869317 44869318 44869318 downstr_intron 35 1.67307692307692 TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAAAGTAAAATGATCCAGAGT TCGTGGGGATACTGTATGCAAACTGAAAAGTGTCACTGAGAAAATTTCTTTATTCTTTTGCAGCTCCTCACAGCCAGTGACCTTGCAGCCAGTGACCTCAAAGGATTTCAGCCACAGGTAAGTTCCACTGATGCTTTTAAGAAGTTTGGAAGAGTAAAATGATCCAGAGT mutant NA NA NA NA NA 16 108 1 1 1 0.999734718824479 0.995199525162857 0.995800782915454 0.928241439905109 NA NA 0.00419921708454585 0.0717585600948911 0.997467121993668 0.962021111410281 NA 0.0379788885897185 NA FALSE NA 0 -0.337 . intron_variant MODIFIER SETBP1 HGNC 15573 ENST00000282030 3/5 1 NA AGA G,A 8.237e-06 18:44869318 SETBP1 HGNC Symbol protein_coding 388337 ENSG00000152217 ENSE00001173581 intron_variant 0.156016 0.11939 0.00875 0.062308 0.536512747524366 0.046323 0.999002929381036 TRUE 8.15135e-06 ENSE00001173755_000 ENSE00001173755 000 3 4417964 4418133 - 50 60 60 NA NA NA NA NA CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 NA NA NA NA NA NA CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT natural 266 151 0.975518833674769 0.97898591134368 0.977252372509225 5102 5675 0.975457638235687 0.963943513509005 0.969700575872346 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 0 0 0 0 0.977252372509225 0.969700575872346 0 0 0 FALSE FALSE NA NA NA NA NA SUMF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUMF1 NA NA NA ENSG00000144455 ENSE00001173755 NA NA NA NA NA NA NA 0.0425777224004311 FALSE NA ENSE00001173755_001 ENSE00001173755 001 3 4417964 4418133 - 50 60 60 C T 4417985 1 149 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCATTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376300 4376301 4376301 downstr_intron 29 1.59183673469388 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCATTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 51 451 0.990006993516629 1 0.995003496758315 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0145493552809427 0.0360564864909952 0.977252372509225 0.969700575872346 NA 0.025302920885969 NA FALSE NA 0.001 0.352 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 4/4 rs201359733 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 3.295e-05 3:4376301 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant -0.094404 0.16525 0.01827 0.093295 0.601637675264182 0.046875 0.0425777224004311 FALSE 2.84342e-05 ENSE00001173755_002 ENSE00001173755 002 3 4417964 4418133 - 50 60 60 G A 4417986 2 148 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCTGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376301 4376302 4376302 downstr_intron 28 1.57142857142857 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCTGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 335 565 0.999542255146353 0.99667501355722 0.998108634351786 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0240846169106663 0.0327315000482152 0.977252372509225 0.969700575872346 NA 0.0284080584794408 NA FALSE NA 0 0.088 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 4/4 1 NA CGG G,A 4.942e-05 3:4376302 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant -0.186151 0.07499 0.00028 0.093295 0.621487169422013 0.046875 0.0425777224004311 FALSE 3.65571e-05 ENSE00001173755_003 ENSE00001173755 003 3 4417964 4418133 - 50 60 60 A C 4417989 3 145 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTGGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376304 4376305 4376305 downstr_intron 25 1.51020408163265 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTGGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 626 629 0.949101265162086 0.981383330091358 0.965242297626722 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA -0.0263563730736006 0.0174398165823529 0.977252372509225 0.969700575872346 NA -0.00445827824562384 NA FALSE NA 0 -0.232 rs17040575 intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 4/4 rs17040575 1 C:0.0170 C:0.0008 C:0.062 NA C:0.0387 C:0 C:0.002 C:0.0016 C:0.0005 CAA A,C 0.011 3:4376305 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant -0.022047 0.20955 0.04944 0.093295 0.636111943204633 0.046875 0.0425777224004311 FALSE 0.0132238 ENSE00001173755_004 ENSE00001173755 004 3 4417964 4418133 - 50 60 60 G A 4418002 4 132 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTTACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376317 4376318 4376318 downstr_intron 12 1.24489795918367 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTTACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 1599 2660 0.986209791523533 0.998738678219618 0.992474234871575 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0107521532878465 0.0347951647106128 0.977252372509225 0.969700575872346 NA 0.0227736589992297 NA FALSE NA 0.001 0.328 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 4/4 1 NA TGA G,A 1.647e-05 3:4376318 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant 0.60171 0.15731 0.04957 0.093295 0.728315262255675 0.046875 0.0425777224004311 FALSE 6.49831e-05 ENSE00001173755_005 ENSE00001173755 005 3 4417964 4418133 - 50 60 60 T C 4418006 5 128 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCGTGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376321 4376322 4376322 downstr_intron 8 1.16326530612245 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCGTGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 43 567 0.924489197310873 0.997338620404024 0.960913908857449 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA -0.0509684409248131 0.033395106895019 0.977252372509225 0.969700575872346 NA -0.00878666701489705 NA FALSE NA 0.002 -0.058 . splice_region_variant&intron_variant LOW SUMF1 HGNC 20376 ENST00000458465 4/4 1 NA ATG T,C 8.236e-06 3:4376322 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 splice_region_variant 1.067088 0.18895 0.01619 0.093295 0.817037666634174 0.145547 0.0425777224004311 FALSE 4.06154e-06 ENSE00001173755_006 ENSE00001173755 006 3 4417964 4418133 - 50 60 60 C A 4418014 6 120 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGTGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376329 4376330 4376330 exon -1 1 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGTGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 1337 277 0.976419703266626 0.980232319549973 0.9783260114083 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.000962065030939763 0.0162888060409687 0.977252372509225 0.969700575872346 NA 0.00862543553595424 NA FALSE NA 1 2.229 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:4376330 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 missense_variant 3.916032 0.97018 0.83759 0.693126 0.947255290972531 0 0.0425777224004311 FALSE 4.06141e-06 ENSE00001173755_007 ENSE00001173755 007 3 4417964 4418133 - 50 60 60 C T 4418014 7 120 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGAGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376329 4376330 4376330 exon -1 1 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGAGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 398 392 0.998647984687122 0.998133811274386 0.998390897980754 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0231903464514357 0.0341902977653814 0.977252372509225 0.969700575872346 NA 0.0286903221084086 NA FALSE NA 1 2.229 NA NA NA SUMF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUMF1 NA NA NA ENSG00000144455 ENSE00001173755 splice_region_variant 1.921989 0.96816 0.75446 0.693126 0.824693956753379 0 0.0425777224004311 FALSE 4.06141e-06 ENSE00001173755_008 ENSE00001173755 008 3 4417964 4418133 - 50 60 60 G A 4418020 8 114 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGTCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376335 4376336 4376336 exon -7 0.9 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGTCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 351 1105 0.997989594477527 0.984965026812926 0.991477310645227 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0225319562418407 0.0210215133039215 0.977252372509225 0.969700575872346 NA 0.0217767347728811 NA FALSE NA 1 1.616 . synonymous_variant LOW SUMF1 HGNC 20376 ENST00000458465 4/5 1 NA GGC G,A 8.236e-06 3:4376336 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 synonymous_variant 1.090867 0.96265 0.68593 0.693126 0.578377308708118 0 0.0425777224004311 FALSE 4.06151e-06 ENSE00001173755_009 ENSE00001173755 009 3 4417964 4418133 - 50 60 60 A G 4418024 9 110 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACACGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376339 4376340 4376340 exon -11 0.833333333333333 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACACGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 1586 937 0.996389591696034 0.99851911018443 0.997454350940232 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0209319534603478 0.0345755966754252 0.977252372509225 0.969700575872346 NA 0.0277537750678865 NA FALSE NA 1 5.469 . missense_variant MODERATE SUMF1 HGNC 20376 ENST00000458465 4/5 COSM4117716&COSM4117717 1 deleterious(0) possibly_damaging(0.9) NA CAT A,G 1.647e-05 3:4376340 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 missense_variant 5.825552 0.98174 0.93609 0.693126 0.985418157444525 0 0.0425777224004311 FALSE 2.43686e-05 ENSE00001173755_010 ENSE00001173755 010 3 4417964 4418133 - 50 60 60 G A 4418026 10 108 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTATATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376341 4376342 4376342 exon -13 0.8 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTATATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 1156 1210 0.962365570677043 0.999232674980311 0.980799122828677 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA -0.013092067558644 0.0352891614713059 0.977252372509225 0.969700575872346 NA 0.0110985469563309 NA FALSE NA 1 1.575 . synonymous_variant LOW SUMF1 HGNC 20376 ENST00000458465 4/5 1 NA TGT G,A 8.236e-06 3:4376342 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 synonymous_variant 0.682876 0.95851 0.71396 0.693126 0.61199100032935 0 0.0425777224004311 FALSE 1.21843e-05 ENSE00001173755_011 ENSE00001173755 011 3 4417964 4418133 - 50 60 60 A G 4418045 11 89 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGCGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376360 4376361 4376361 exon 29 0.483333333333333 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGCGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 140 474 0.956805864034142 0.999919671229999 0.97836276763207 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA -0.0186517742015447 0.0359761577209941 0.977252372509225 0.969700575872346 NA 0.00866219175972466 NA FALSE NA 1 5.469 . missense_variant MODERATE SUMF1 HGNC 20376 ENST00000458465 4/5 1 deleterious(0.01) possibly_damaging(0.842) NA CAC A,G 8.236e-06 3:4376361 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 missense_variant 6.031121 0.98174 0.93609 0.693126 0.998486690331524 0 0.0425777224004311 FALSE 4.06124e-06 ENSE00001173755_013 ENSE00001173755 013 3 4417964 4418133 - 50 60 60 T A 4418081 13 53 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCTTCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376396 4376397 4376397 upstr_intron -8 -0.116666666666667 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCTTCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 1341 362 0.99511274782314 0.999562864515062 0.997337806169101 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0196551095874534 0.0356193510060574 0.977252372509225 0.969700575872346 NA 0.0276372302967554 NA FALSE NA 0 -0.403 . splice_region_variant&intron_variant LOW SUMF1 HGNC 20376 ENST00000458465 3/4 rs529629020 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ATG T,A 8.237e-06 3:4376397 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 splice_region_variant 0.260395 0.14698 0.02494 0.093295 0.561121550633309 0.046323 0.0425777224004311 FALSE 4.06177e-06 ENSE00001173755_014 ENSE00001173755 014 3 4417964 4418133 - 50 60 60 A C 4418086 14 48 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTGCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376401 4376402 4376402 upstr_intron -13 -0.2 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTGCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 1020 399 0.995461806296214 1 0.997730903148107 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0200041680605272 0.0360564864909952 0.977252372509225 0.969700575872346 NA 0.0280303272757612 NA FALSE NA 0.945 2.354 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 rs201298787 1 NA GAA A,C 8.236e-06 3:4376402 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant -0.15476 0.33332 0.71032 0.093295 0.687267371026503 0.080519 0.0425777224004311 FALSE NA ENSE00001173755_015 ENSE00001173755 015 3 4417964 4418133 - 50 60 60 A G 4418087 15 47 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTCTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376402 4376403 4376403 upstr_intron -14 -0.216666666666667 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTCTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 507 663 0.999511957375127 1 0.999755978687564 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0240543191394408 0.0360564864909952 0.977252372509225 0.969700575872346 NA 0.030055402815218 NA FALSE NA 0.942 1.565 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 1 NA AAA A,G 8.236e-06 3:4376403 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant 0.090488 0.15631 0.00802 0.093295 0.660599491912993 0.0455939 0.0425777224004311 FALSE 4.06213e-06 ENSE00001173755_016 ENSE00001173755 016 3 4417964 4418133 - 50 60 60 A C 4418090 16 44 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTGTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376405 4376406 4376406 upstr_intron -17 -0.266666666666667 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTGTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 1311 2052 0.979218057370185 0.80711300618059 0.893165531775388 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.00376041913449854 -0.156830507328415 0.977252372509225 0.969700575872346 NA -0.076535044096958 NA FALSE NA 0.001 -0.529 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 rs374945651 1 NA C:0 C:0.0002 AAA A,C 0.0002883 3:4376406 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant -0.373308 0.19817 0.03786 0.093295 0.515707355489719 0.0455939 0.0425777224004311 FALSE 0.000292467 ENSE00001173755_017 ENSE00001173755 017 3 4417964 4418133 - 50 60 60 A G 4418096 17 38 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACACAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376411 4376412 4376412 upstr_intron -23 -0.366666666666667 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACACAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 582 1437 0.877606383115803 0.996119000958666 0.936862692037234 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA -0.0978512551198837 0.0321754874496614 0.977252372509225 0.969700575872346 NA -0.0328378838351112 NA FALSE NA 0 -4.314 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 1 NA TAT A,G 8.237e-06 3:4376412 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant -0.362441 0.0859 0.00731 0.093295 0.23584616103142 0.0455939 0.0425777224004311 FALSE 4.06293e-06 ENSE00001173755_018 ENSE00001173755 018 3 4417964 4418133 - 50 60 60 T C 4418097 18 37 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACGTAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376412 4376413 4376413 upstr_intron -24 -0.383333333333333 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACGTAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 236 584 0.99476400882366 0.983614186798646 0.989189097811153 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0193063705879739 0.0196706732896414 0.977252372509225 0.969700575872346 NA 0.0194885219388077 NA FALSE NA 0 -2.207 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 rs200819996 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 ATG T,C 2.471e-05 3:4376413 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant -0.269152 0.1307 0.00459 0.093295 0.278508541011823 0.0455939 0.0425777224004311 FALSE 1.21886e-05 ENSE00001173755_019 ENSE00001173755 019 3 4417964 4418133 - 50 60 60 T C 4418100 19 34 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTGACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376415 4376416 4376416 upstr_intron -27 -0.433333333333333 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTGACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 612 395 0.991046867224873 1 0.995523433612437 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0155892289891865 0.0360564864909952 0.977252372509225 0.969700575872346 NA 0.0258228577400909 NA FALSE NA 0.452 0.131 rs189160903 intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 rs189160903 1 C:0.0014 C:0 C:0.0014 NA C:0 C:0.005 C:0.001 C:0.0014 C:0.0072 TTA T,C 0.003418 3:4376416 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant 0.292396 0.20223 0.07395 0.093295 0.653571147424848 0.0455939 0.0425777224004311 FALSE 0.00354702 ENSE00001173755_020 ENSE00001173755 020 3 4417964 4418133 - 50 60 60 A G 4418103 20 31 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGCCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376418 4376419 4376419 upstr_intron -30 -0.483333333333333 CACTGTGTAAGGGGCAGCTTTGCCTTCTGGCCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 630 201 0.989136211456243 0.999212356285431 0.994174283870837 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0136785732205569 0.0352688427764265 0.977252372509225 0.969700575872346 NA 0.0244737079984917 NA FALSE NA 0.192 0.136 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 rs375475540 1 NA G:0.0002 G:0 GAC A,G 8.237e-06 3:4376419 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant 0.19538 0.20221 0.02416 0.093295 0.62887577354993 0.0455939 0.0425777224004311 FALSE 8.12605e-06 ENSE00001173755_021 ENSE00001173755 021 3 4417964 4418133 - 50 60 60 C T 4418105 21 29 CACTGTGTAAGGGGCAGCTTTGCCTTCTAGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376420 4376421 4376421 upstr_intron -32 -0.516666666666667 CACTGTGTAAGGGGCAGCTTTGCCTTCTAGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 164 101 1 0.99527304983921 0.997636524919605 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0245423617643135 0.0313295363302053 0.977252372509225 0.969700575872346 NA 0.0279359490472594 NA FALSE NA 0 -0.273 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 1 NA CCA C,T 4.118e-05 3:4376421 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant 0.438233 0.19719 0.01978 0.093295 0.691722194210021 0.046323 0.0425777224004311 FALSE 3.25063e-05 ENSE00001173755_022 ENSE00001173755 022 3 4417964 4418133 - 50 60 60 G T 4418116 22 18 CACTGTGTAAGGGGCAGATTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376431 4376432 4376432 upstr_intron -43 -0.7 CACTGTGTAAGGGGCAGATTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 242 302 1 0.996127653142281 0.99806382657114 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0245423617643135 0.0321841396332759 0.977252372509225 0.969700575872346 NA 0.0283632506987947 NA FALSE NA 0 0.237 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 1 NA AGC G,T 8.237e-06 3:4376432 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant 0.590853 0.18442 0.06833 0.093295 0.72977923908914 0.0455939 0.0425777224004311 FALSE 8.13107e-06 ENSE00001173755_023 ENSE00001173755 023 3 4417964 4418133 - 50 60 60 C T 4418117 23 17 CACTGTGTAAGGGGCAACTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376432 4376433 4376433 upstr_intron -44 -0.716666666666667 CACTGTGTAAGGGGCAACTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 482 212 1 0.97171634469339 0.985858172346695 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0245423617643135 0.00777283118438499 0.977252372509225 0.969700575872346 NA 0.0161575964743492 NA FALSE NA 0 -0.294 rs73809529 intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 rs73809529 1 T:0.0146 T:0.0469 T:0.0101 NA T:0 T:0.004 T:0 T:0.0363 T:0.003 GCT C,T 0.006507 3:4376433 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant 0.948831 0.18921 0.02552 0.093295 0.773262279559796 0.0455939 0.0425777224004311 FALSE 0.00646531 ENSE00001173755_024 ENSE00001173755 024 3 4417964 4418133 - 50 60 60 C T 4418121 24 13 CACTGTGTAAGGAGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 4376436 4376437 4376437 upstr_intron -48 -0.783333333333333 CACTGTGTAAGGAGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT mutant NA NA NA NA NA 358 24 1 1 1 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA 0.0245423617643135 0.0360564864909952 0.977252372509225 0.969700575872346 NA 0.0302994241276544 NA FALSE NA 0 -0.817 . intron_variant MODIFIER SUMF1 HGNC 20376 ENST00000458465 3/4 1 NA CCC C,T 8.237e-06 3:4376437 SUMF1 HGNC Symbol protein_coding 766467 ENSG00000144455 ENSE00001173755 intron_variant 0.922762 0.16613 0.00784 0.093295 0.704158429278517 0.046323 0.0425777224004311 FALSE 8.13425e-06 ENSE00001173755_BRK ENSE00001173755 BRK 3 4417964 4418133 - 50 60 60 A,G; T,T NA NA NA CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTTTAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGCCAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT 4376279 4376449 NA NA NA NA NA NA CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTTTAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGCCAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT CACTGTGTAAGGGGCAGCTTTGCCTTCTGGTCTAACATAGCCTTTTTTCTTCATCTGTAGAAAGGTCCCCCTTCTGGGAAAGACCGAGTGAAGAAAGGTGGATCCTACATGTGCCATAGGGTAAGTCATGTCACTAAACTGTTTTGCCGTTCTTGTTCTGATAGCAGTTT control NA NA NA NA NA 309 178 0 0 0 0.975518833674769 0.97898591134368 0.975457638235687 0.963943513509005 NA NA -0.975457638235687 -0.963943513509005 0.977252372509225 0.969700575872346 NA -0.969700575872346 NA TRUE NA NA NA NA NA NA SUMF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUMF1 NA NA NA ENSG00000144455 ENSE00001173755 NA NA NA NA NA NA NA 0.0425777224004311 FALSE NA ENSE00001173888_000 ENSE00001173888 000 8 126067794 126067963 - 39 81 50 NA NA NA NA NA TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 NA NA NA NA NA NA TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC natural 143 69 0.991104479748146 0.979600042075993 0.985352260912069 2138 185 0.821786831183304 0.993133522311216 0.90746017674726 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 0 0 0 0 0.985352260912069 0.90746017674726 0 0 0 FALSE FALSE NA NA NA NA NA KIAA0196 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WASHC5 NA NA NA ENSG00000164961 ENSE00001173888 NA NA NA NA NA NA NA NA NA NA ENSE00001173888_001 ENSE00001173888 001 8 126067794 126067963 - 39 81 50 G A 126067804 2005 160 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTTGCACCATGAC 125055551 125055721 125055561 125055562 125055562 downstr_intron 29 1.76315789473684 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTTGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 1655 835 0.99016847125079 0.999810549437806 0.994989510344298 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.168381640067486 0.00667702712659013 0.985352260912069 0.90746017674726 NA 0.087529333597038 NA FALSE NA 0 -2.318 . intron_variant MODIFIER KIAA0196 HGNC 28984 ENST00000517845 15/26 1 NA CGA G,A 8.236e-06 8:125055562 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 intron_variant -0.340664 0.05807 0.00851 0.099367 0.639124628220176 0.0620379 NA NA 8.13101e-06 ENSE00001173888_004 ENSE00001173888 004 8 126067794 126067963 - 39 81 50 G A 126067812 2008 152 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGTGTGGCCTCGCACCATGAC 125055551 125055721 125055569 125055570 125055570 downstr_intron 21 1.55263157894737 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGTGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 42 20 1 1 1 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.178213168816696 0.00686647768878423 0.985352260912069 0.90746017674726 NA 0.09253982325274 NA FALSE NA 0 -0.248 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:125055570 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 intron_variant 0.157792 0.06719 0.00084 0.156188 0.651650047309348 0.0900164 NA NA 3.65839e-05 ENSE00001173888_007 ENSE00001173888 007 8 126067794 126067963 - 39 81 50 G A 126067855 2011 109 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAATGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 125055612 125055613 125055613 exon -23 0.728395061728395 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAATGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 673 375 0.809586751622361 0.89398746550451 0.851787108563436 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA -0.0122000795609429 -0.0991460568067056 0.985352260912069 0.90746017674726 NA -0.0556730681838243 NA FALSE NA 1 9.864 NA NA NA KIAA0196 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:125055613 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 missense_variant 7.148125 0.99576 0.99599 0.706548 0.999217848120801 0 NA NA 2.84407e-05 ENSE00001173888_009 ENSE00001173888 009 8 126067794 126067963 - 39 81 50 T C 126067886 2013 78 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCGTTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 125055643 125055644 125055644 exon 28 0.345679012345679 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCGTTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 82 198 1 1 1 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.178213168816696 0.00686647768878423 0.985352260912069 0.90746017674726 NA 0.09253982325274 NA FALSE NA 1 5.124 . missense_variant MODERATE KIAA0196 HGNC 28984 ENST00000517845 15/27 1 tolerated(1) benign(0.004) NA ATG T,C 8.237e-06 8:125055644 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 missense_variant 0.557921 0.98425 0.97081 0.706548 0.807400661805988 0 NA NA 8.12572e-06 ENSE00001173888_011 ENSE00001173888 011 8 126067794 126067963 - 39 81 50 T C 126067917 2015 47 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTGTAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 125055674 125055675 125055675 upstr_intron -4 -0.06 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTGTAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 88 502 1 1 1 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.178213168816696 0.00686647768878423 0.985352260912069 0.90746017674726 NA 0.09253982325274 NA FALSE NA 0.79 -0.25 . splice_region_variant&intron_variant LOW KIAA0196 HGNC 28984 ENST00000517845 14/26 1 NA ATA T,C 8.237e-06 8:125055675 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 splice_region_variant 1.004394 0.9565 0.70131 0.099367 0.688721379708562 0.522504 NA NA 8.12982e-06 ENSE00001173888_012 ENSE00001173888 012 8 126067794 126067963 - 39 81 50 A G 126067925 2016 39 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTCCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 125055682 125055683 125055683 upstr_intron -12 -0.22 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTCCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 1192 295 0.994124143874824 0.952446356392941 0.973285250133883 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.17233731269152 -0.0406871659182745 0.985352260912069 0.90746017674726 NA 0.0658250733866226 NA FALSE NA 0.987 2.268 . intron_variant MODIFIER KIAA0196 HGNC 28984 ENST00000517845 14/26 1 NA GAA A,G 8.237e-06 8:125055683 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 intron_variant 0.138651 0.5886 0.9053 0.099367 0.683169353077481 0.450558 NA NA 4.06666e-06 ENSE00001173888_014 ENSE00001173888 014 8 126067794 126067963 - 39 81 50 A C 126067926 2018 38 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTGTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 125055683 125055684 125055684 upstr_intron -13 -0.24 TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTGTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 526 180 0.936272288523411 0.949134418733679 0.942703353628545 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.114485457340107 -0.0439991035775368 0.985352260912069 0.90746017674726 NA 0.0352431768812851 NA FALSE NA 0.441 -0.523 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:125055684 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 intron_variant -0.038501 0.24107 0.12156 0.099367 0.716880185349569 0.251994 NA NA 4.06663e-06 ENSE00001173888_015 ENSE00001173888 015 8 126067794 126067963 - 39 81 50 G A 126067933 2019 31 TCCAGGACTATTAGACAGTGATTTTTCATATCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 125055690 125055691 125055691 upstr_intron -20 -0.38 TCCAGGACTATTAGACAGTGATTTTTCATATCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 119 23 1 0.998327998473656 0.999163999236828 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.178213168816696 0.00519447616243995 0.985352260912069 0.90746017674726 NA 0.0917038224895679 NA FALSE NA 0.542 0.885 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:125055691 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 intron_variant 0.505347 0.29312 0.29735 0.099367 0.598305784886011 0.128256 NA NA 8.13954e-06 ENSE00001173888_016 ENSE00001173888 016 8 126067794 126067963 - 39 81 50 G C 126067933 2020 31 TCCAGGACTATTAGACAGTGATTTTTCATAGCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 125055690 125055691 125055691 upstr_intron -20 -0.38 TCCAGGACTATTAGACAGTGATTTTTCATAGCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 86 2253 0.95 0.95139363673944 0.95069681836972 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.128213168816696 -0.0417398855717762 0.985352260912069 0.90746017674726 NA 0.0432366416224598 NA FALSE NA 0.542 0.885 NA NA NA KIAA0196 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WASHC5 NA NA NA ENSG00000164961 ENSE00001173888 intron_variant 0.108828 0.27686 0.27928 0.099367 0.669905900630176 0.128256 NA NA 8.13954e-06 ENSE00001173888_017 ENSE00001173888 017 8 126067794 126067963 - 39 81 50 G C 126067937 2021 27 TCCAGGACTATTAGACAGTGATTTTTGATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 125055694 125055695 125055695 upstr_intron -24 -0.46 TCCAGGACTATTAGACAGTGATTTTTGATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC mutant NA NA NA NA NA 224 211 1 1 1 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 NA NA 0.178213168816696 0.00686647768878423 0.985352260912069 0.90746017674726 NA 0.09253982325274 NA FALSE NA 0 -0.793 . intron_variant MODIFIER KIAA0196 HGNC 28984 ENST00000517845 14/26 1 NA TGA G,C 8.237e-06 8:125055695 WASHC5 HGNC Symbol protein_coding 67580 ENSG00000164961 ENSE00001173888 intron_variant -0.261853 0.29129 0.12193 0.099367 0.43773314377691 0.128256 NA NA 4.07146e-06 ENSE00001173888_BRK ENSE00001173888 BRK 8 126067794 126067963 - 39 81 50 A,G; T,T NA NA NA TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATTTGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGCCAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC 125055551 125055721 NA NA NA NA NA NA TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATTTGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGCCAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC TCCAGGACTATTAGACAGTGATTTTTCATACCTCTTTTTCTTTGTTATAGGTTGCCAAGCTTACTCATGCTATTTCCATTTTTACTGAAGGCATCTTAATGATGAAAACGACTTTGGTTGGCATCATCAAGGTAACAGTTTTGTTAGTCTGCGTGGCCTCGCACCATGAC control 68 10 0 0 0 NA NA NA NA NA 0.991104479748146 0.979600042075993 0.821786831183304 0.993133522311216 -0.991104479748146 -0.979600042075993 NA NA 0.985352260912069 0.90746017674726 -0.985352260912069 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WASHC5 NA NA NA ENSG00000164961 ENSE00001173888 NA NA NA NA NA NA NA NA NA NA ENSE00001173919_000 ENSE00001173919 000 6 35051147 35051316 + 47 87 36 NA NA NA NA NA TCCCACTCCCACCAAGAGTCCCTGTAAGCAGCACACCTTGTTGGAGGCATCGATGAACTTGACACCTTTGTATGTGATGGACAGGATGATGGTGGGGATCTTCTTCATGTGCTCCGTAGATTTCTACAGGAAACAAGGGGTGGCCCTGTCAGTGCCCCTTCTCAGGGCTA 35083369 35083539 NA NA NA NA NA NA TAGCCCTGAGAAGGGGCACTGACAGGGCCACCCCTTGTTTCCTGTAGAAATCTACGGAGCACATGAAGAAGATCCCCACCATCATCCTGTCCATCACATACAAAGGTGTCAAGTTCATCGATGCCTCCAACAAGGTGTGCTGCTTACAGGGACTCTTGGTGGGAGTGGGA TAGCCCTGAGAAGGGGCACTGACAGGGCCACCCCTTGTTTCCTGTAGAAATCTACGGAGCACATGAAGAAGATCCCCACCATCATCCTGTCCATCACATACAAAGGTGTCAAGTTCATCGATGCCTCCAACAAGGTGTGCTGCTTACAGGGACTCTTGGTGGGAGTGGGA natural 183 365 0.771301256064014 0.85 0.810650628032007 610 240 0.947842477131152 0.925086710194177 0.936464593662664 0.771301256064014 0.85 0.947842477131152 0.925086710194177 0 0 0 0 0.810650628032007 0.936464593662664 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001173919 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001173956_000 ENSE00001173956 000 1 31207987 31208156 - 33 93 44 NA NA NA NA NA ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 NA NA NA NA NA NA AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT natural 176 31 0.89225988515024 0.987049995604778 0.939654940377509 2171 1437 0.941973246201405 0.991618537854085 0.966795892027745 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 0 0 0 0 0.939654940377509 0.966795892027745 0 0 0 FALSE FALSE NA NA NA NA NA LAPTM5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAPTM5 NA NA NA ENSG00000162511 ENSE00003563654 NA NA NA NA NA NA NA 0.735702166051801 FALSE NA ENSE00001173956_001 ENSE00001173956 001 1 31207987 31208156 - 33 93 44 A G 31208008 945 149 ACAGGGCTGGCACCCACCTGCGGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735160 30735161 30735161 downstr_intron 12 1.375 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCCGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant 11 11 0.996527566648569 0.995613285860812 0.996070426254691 NA NA NA NA NA 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 0.104267681498329 0.00856329025603408 NA NA 0.939654940377509 0.966795892027745 0.0564154858771816 NA NA NA FALSE 0 -2.677 . intron_variant MODIFIER LAPTM5 HGNC 29612 ENST00000294507 7/7 1 NA CAG A,G 8.236e-06 1:30735161 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 intron_variant 0.19315 0.17731 0.0175 0.256867 0.543941791950103 0.0489136 0.735702166051801 FALSE 4.06987e-06 ENSE00001173956_002 ENSE00001173956 002 1 31207987 31208156 - 33 93 44 G A 31208009 946 148 ACAGGGCTGGCACCCACCTGCAACCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735161 30735162 30735162 downstr_intron 11 1.34375 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGTTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 58 271 0.997347280370395 0.998009409979879 0.997678345175137 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.05537403416899 0.00639087212579448 0.939654940377509 0.966795892027745 NA 0.0308824531473922 NA FALSE NA 0 -0.251 . intron_variant MODIFIER LAPTM5 HGNC 29612 ENST00000294507 7/7 rs376284297 1 NA A:0.0005 A:0 AGC G,A 5.765e-05 1:30735162 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 intron_variant 0.334067 0.18129 0.00812 0.256867 0.430013170229203 0.0565337 0.735702166051801 FALSE 2.84905e-05 ENSE00001173956_003 ENSE00001173956 003 1 31207987 31208156 - 33 93 44 C A 31208023 947 134 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTATGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735175 30735176 30735176 exon -4 0.967741935483871 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCATAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 452 163 0.999177679812341 1 0.99958883990617 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0572044336109354 0.00838146214591518 0.939654940377509 0.966795892027745 NA 0.0327929478784253 NA FALSE NA 0.001 -0.788 . missense_variant MODERATE LAPTM5 HGNC 29612 ENST00000294507 7/8 1 deleterious(0.03) benign(0.421) NA TCT C,A 8.236e-06 1:30735176 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 missense_variant 0.777495 0.23747 0.10333 0.706548 0.976053458317878 0 0.735702166051801 FALSE 4.06583e-06 ENSE00001173956_004 ENSE00001173956 004 1 31207987 31208156 - 33 93 44 G A 31208028 948 129 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAACATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735180 30735181 30735181 exon -9 0.913978494623656 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGTTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 35 173 0.99396850975593 1 0.996984254877965 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0519952635545244 0.00838146214591518 0.939654940377509 0.966795892027745 NA 0.0301883628502198 NA FALSE NA 0 0.201 . missense_variant MODERATE LAPTM5 HGNC 29612 ENST00000294507 7/8 COSM4031328 1 tolerated(0.2) benign(0.014) NA AGC G,A 8.236e-06 1:30735181 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 missense_variant -0.503126 0.18455 0.03689 0.706548 0.586441848352864 0 0.735702166051801 FALSE 4.06534e-06 ENSE00001173956_006 ENSE00001173956 006 1 31207987 31208156 - 33 93 44 T C 31208031 950 126 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCACCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735183 30735184 30735184 exon -12 0.881720430107527 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGGTGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 66 597 1 0.999424208239985 0.999712104119993 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 0.00780567038590052 0.939654940377509 0.966795892027745 NA 0.0329162120922476 NA FALSE NA 0.069 0.323 . missense_variant MODERATE LAPTM5 HGNC 29612 ENST00000294507 7/8 1 tolerated(0.68) benign(0.002) NA ATC T,C 8.236e-06 1:30735184 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 missense_variant -2.396867 0.17138 0.04122 0.706548 0.575668411631843 0 0.735702166051801 FALSE 8.12843e-06 ENSE00001173956_007 ENSE00001173956 007 1 31207987 31208156 - 33 93 44 T G 31208034 951 123 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTGGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735186 30735187 30735187 exon -15 0.849462365591398 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCCAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 186 3338 0.989598304691111 0.997337421417213 0.993467863054162 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0476250584897057 0.00571888356312811 0.939654940377509 0.966795892027745 NA 0.0266719710264169 NA FALSE NA 0.494 0.685 . missense_variant MODERATE LAPTM5 HGNC 29612 ENST00000294507 7/8 1 tolerated(0.76) benign(0.04) NA TTG T,G 8.236e-06 1:30735187 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 missense_variant 1.288971 0.91663 0.33888 0.706548 0.702629026924249 0 0.735702166051801 FALSE 4.06345e-06 ENSE00001173956_008 ENSE00001173956 008 1 31207987 31208156 - 33 93 44 G A 31208035 952 122 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTAGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735187 30735188 30735188 exon -16 0.838709677419355 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCTAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 92 137 1 1 1 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 0.00838146214591518 0.939654940377509 0.966795892027745 NA 0.0332041079722549 NA FALSE NA 0.491 0.293 . synonymous_variant LOW LAPTM5 HGNC 29612 ENST00000294507 7/8 1 NA TGG G,A 8.236e-06 1:30735188 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 synonymous_variant 0.387889 0.89945 0.27558 0.706548 0.622751434482149 0 0.735702166051801 FALSE 4.06372e-06 ENSE00001173956_010 ENSE00001173956 010 1 31207987 31208156 - 33 93 44 A G 31208054 954 103 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCGCCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735206 30735207 30735207 exon -35 0.634408602150538 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGCGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 161 1223 1 0.996012978639522 0.998006489319761 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 0.00439444078543683 0.939654940377509 0.966795892027745 NA 0.0312105972920158 NA FALSE NA 0 0.167 . missense_variant MODERATE LAPTM5 HGNC 29612 ENST00000294507 7/8 1 tolerated(0.86) benign(0) NA CAC A,G 1.647e-05 1:30735207 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 missense_variant -1.212853 0.1201 0.00244 0.706548 0.335811523242703 0 0.735702166051801 FALSE 8.12466e-06 ENSE00001173956_012 ENSE00001173956 012 1 31207987 31208156 - 33 93 44 C T 31208056 956 101 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACTGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735208 30735209 30735209 exon -37 0.612903225806452 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCAGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 341 195 1 0.99558751688737 0.997793758443685 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 0.00396897903328497 0.939654940377509 0.966795892027745 NA 0.0309978664159398 NA FALSE NA 0 -1.694 . synonymous_variant LOW LAPTM5 HGNC 29612 ENST00000294507 7/8 1 NA CCG C,T 1.647e-05 1:30735209 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 synonymous_variant 1.572858 0.17739 0.02381 0.706548 0.65524033803548 0 0.735702166051801 FALSE 1.21876e-05 ENSE00001173956_013 ENSE00001173956 013 1 31207987 31208156 - 33 93 44 G A 31208057 957 100 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCAAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735209 30735210 30735210 exon -38 0.602150537634409 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTTGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 608 198 1 1 1 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 0.00838146214591518 0.939654940377509 0.966795892027745 NA 0.0332041079722549 NA FALSE NA 0.419 0.12 . missense_variant MODERATE LAPTM5 HGNC 29612 ENST00000294507 7/8 1 tolerated(0.36) benign(0.025) NA CGA G,A 3.295e-05 1:30735210 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 missense_variant 1.214099 0.20069 0.07062 0.706548 0.841477733324366 0 0.735702166051801 FALSE 2.43754e-05 ENSE00001173956_014 ENSE00001173956 014 1 31207987 31208156 - 33 93 44 A G 31208063 958 94 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCGTGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735215 30735216 30735216 exon -44 0.537634408602151 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCACGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 371 339 0.998548976201105 0.988556797018113 0.993552886609609 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0565757299996997 -0.00306174083597155 0.939654940377509 0.966795892027745 NA 0.0267569945818641 NA FALSE NA 0.003 -0.113 . missense_variant MODERATE LAPTM5 HGNC 29612 ENST00000294507 7/8 rs374608139 1 tolerated(0.52) benign(0.001) NA G:0 G:0.0001 CAT A,G 8.236e-06 1:30735216 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 missense_variant -1.49321 0.18831 0.04742 0.706548 0.568297521621252 0 0.735702166051801 FALSE 1.62485e-05 ENSE00001173956_016 ENSE00001173956 016 1 31207987 31208156 - 33 93 44 T C 31208081 960 76 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGCAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735233 30735234 30735234 exon 32 0.344086021505376 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTGCAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 59 387 1 1 1 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 0.00838146214591518 0.939654940377509 0.966795892027745 NA 0.0332041079722549 NA FALSE NA 0.997 2.509 . missense_variant MODERATE LAPTM5 HGNC 29612 ENST00000294507 7/8 1 deleterious(0) probably_damaging(1) NA GTA T,C 8.236e-06 1:30735234 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 missense_variant 5.01622 0.93571 0.71808 0.706548 0.997814178218985 0 0.735702166051801 FALSE 8.12414e-06 ENSE00001173956_017 ENSE00001173956 017 1 31207987 31208156 - 33 93 44 G A 31208083 961 74 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAACACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735235 30735236 30735236 exon 30 0.32258064516129 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGTTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 17 38 1 1 1 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 0.00838146214591518 0.939654940377509 0.966795892027745 NA 0.0332041079722549 NA FALSE NA 1 2.526 . synonymous_variant LOW LAPTM5 HGNC 29612 ENST00000294507 7/8 rs368099878 1 NA A:0.0002 A:0 AGC G,A 8.236e-06 1:30735236 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 synonymous_variant 0.509444 0.92092 0.67469 0.706548 0.720798530027745 0 0.735702166051801 FALSE 4.06237e-06 ENSE00001173956_019 ENSE00001173956 019 1 31207987 31208156 - 33 93 44 G A 31208095 963 62 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACACACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735247 30735248 30735248 exon 18 0.193548387096774 AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGTGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 143 51 1 1 1 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 0.00838146214591518 0.939654940377509 0.966795892027745 NA 0.0332041079722549 NA FALSE NA 0.993 0.129 . synonymous_variant LOW LAPTM5 HGNC 29612 ENST00000294507 7/8 COSM4031329 1 NA CGC G,A 8.236e-06 1:30735248 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 synonymous_variant 1.112964 0.82882 0.08951 0.706548 0.892502524529867 0 0.735702166051801 FALSE 1.21883e-05 ENSE00001173956_022 ENSE00001173956 022 1 31207987 31208156 - 33 93 44 A G 31208127 966 30 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCGGGTCAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735279 30735280 30735280 upstr_intron -15 -0.318181818181818 AAGGACGCTCAGCAAAGCACAGCCTGACCCGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 23 239 1 0.963222204088211 0.981611102044105 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.0580267537985947 -0.0283963337658739 0.939654940377509 0.966795892027745 NA 0.0148152100163604 NA FALSE NA 0 -1.756 . intron_variant MODIFIER LAPTM5 HGNC 29612 ENST00000294507 6/7 1 NA CAG A,G 1.647e-05 1:30735280 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 intron_variant -0.24588 0.11033 0.01546 0.115753 0.327044752483951 0.164617 0.735702166051801 FALSE 1.22006e-05 ENSE00001173956_023 ENSE00001173956 023 1 31207987 31208156 - 33 93 44 C T 31208131 967 26 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTTAGGCTGTGCTTTGCTGAGCGTCCTT 30735139 30735309 30735283 30735284 30735284 upstr_intron -19 -0.409090909090909 AAGGACGCTCAGCAAAGCACAGCCTAACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant NA NA NA NA NA 56 58 0.990833917695134 1 0.995416958847567 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 NA NA 0.048860671493729 0.00838146214591518 0.939654940377509 0.966795892027745 NA 0.0286210668198221 NA FALSE NA 0.002 0.463 . intron_variant MODIFIER LAPTM5 HGNC 29612 ENST00000294507 6/7 1 NA TCA C,T 8.236e-06 1:30735284 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 intron_variant 0.3142 0.20447 0.03859 0.115753 0.794090705082389 0.164617 0.735702166051801 FALSE NA ENSE00001173956_026 ENSE00001173956 026 1 31207987 31208156 - 33 93 44 G A 31208137 970 20 ACAGGGCTGGCACCCACCTGCAGCCACACTCACCTTCTGGAGCATCTTGGAGTTTCTCTTCTCCTCCACCGAGTTCATGCACTTGATCAATCTGTAGCACCGCCACACGCACTTGAACATGTAGACCTGGAAAAAGGCCCAGGTCAGGCTATGCTTTGCTGAGCGTCCTT 30735139 30735309 30735289 30735290 30735290 upstr_intron -25 -0.545454545454545 AAGGACGCTCAGCAAAGCATAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT AAGGACGCTCAGCAAAGCACAGCCTGACCTGGGCCTTTTTCCAGGTCTACATGTTCAAGTGCGTGTGGCGGTGCTACAGATTGATCAAGTGCATGAACTCGGTGGAGGAGAAGAGAAACTCCAAGATGCTCCAGAAGGTGAGTGTGGCTGCAGGTGGGTGCCAGCCCTGT mutant 25 26 0.85 0.981399722468012 0.915699861234006 1210 149 0.959329978470696 1 0.979664989235348 0.89225988515024 0.987049995604778 0.941973246201405 0.991618537854085 -0.0422598851502403 -0.00565027313676525 0.0173567322692909 0.00838146214591518 0.939654940377509 0.966795892027745 -0.0239550791435028 0.012869097207603 0.0368241763511058 FALSE FALSE 0 -1.294 . intron_variant MODIFIER LAPTM5 HGNC 29612 ENST00000294507 6/7 1 NA TGT G,A 8.236e-06 1:30735290 LAPTM5 HGNC Symbol protein_coding 25351 ENSG00000162511 ENSE00003563654 intron_variant 0.344412 0.171 0.02211 0.115753 0.772837020554278 0.123216 0.735702166051801 FALSE NA ENSE00001174251_000 ENSE00001174251 000 1 154303483 154303652 + 41 99 30 NA NA NA NA NA AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 NA NA NA NA NA NA AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC natural 379 357 0.678862826758256 0.658400755978454 0.668631791368355 5544 6378 0.800422763674389 0.739028445317165 0.769725604495777 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 0 0 0 0 0.668631791368355 0.769725604495777 0 0 0 FALSE FALSE NA NA NA NA NA ATP8B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP8B2 NA NA NA ENSG00000143515 ENSE00003677098 NA NA NA NA NA NA NA 0.999564591733884 TRUE NA ENSE00001174251_001 ENSE00001174251 001 1 154303483 154303652 + 41 99 30 T C 154303493 3583 11 AGATGGGGCCCCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331016 154331017 154331017 upstr_intron -31 -0.731707317073171 AGATGGGGCCCCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant NA NA NA NA NA 454 783 0.704289540900332 0.600075882290473 0.652182711595403 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 NA NA -0.0961332227740566 -0.138952563026692 0.668631791368355 0.769725604495777 NA -0.117542892900374 NA FALSE NA 0 1.219 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 rs376368781 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 CTC T,C 5.765e-05 1:154331017 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 intron_variant 0.383366 0.33461 0.38909 0.322412 0.816185416099662 0.10684 0.999564591733884 TRUE 4.88023e-05 ENSE00001174251_003 ENSE00001174251 003 1 154303483 154303652 + 41 99 30 T C 154303512 3585 30 AGATGGGGCCTCAGAGGCATACTTCTCTTCCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331035 154331036 154331036 upstr_intron -12 -0.268292682926829 AGATGGGGCCTCAGAGGCATACTTCTCTTCCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 35 34 0 0 0 75 695 0.672931139345715 0.802918167274821 0.737924653310268 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 -0.678862826758256 -0.658400755978454 -0.127491624328674 0.0638897219576556 0.668631791368355 0.769725604495777 -0.668631791368355 -0.0318009511855092 0.636830840182846 FALSE TRUE 0.041 2.709 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA TTC T,C 8.236e-06 1:154331036 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 intron_variant 0.547031 0.29265 0.19357 0.322412 0.769637497107999 0.628173 0.999564591733884 TRUE 4.06293e-06 ENSE00001174251_004 ENSE00001174251 004 1 154303483 154303652 + 41 99 30 T C 154303524 3586 42 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGCTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331047 154331048 154331048 exon 1 0.0101010101010101 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGCTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant NA NA NA NA NA 1032 192 0.859191030763779 0.943609007489583 0.901400019126681 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 NA NA 0.05876826708939 0.204580562172418 0.668631791368355 0.769725604495777 NA 0.131674414630904 NA FALSE NA 0.999 0.477 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA GTT T,C 1.647e-05 1:154331048 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 splice_region_variant 1.216786 0.963 0.72889 0.706548 0.767291868741108 0 0.999564591733884 TRUE 8.12361e-06 ENSE00001174251_006 ENSE00001174251 006 1 154303483 154303652 + 41 99 30 T G 154303528 3588 46 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGAGCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331051 154331052 154331052 exon 5 0.0505050505050505 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGAGCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 66 41 0 0 0 NA NA NA NA NA 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 -0.678862826758256 -0.658400755978454 NA NA 0.668631791368355 0.769725604495777 -0.668631791368355 NA NA NA TRUE 1 7.827 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 COSM896572&COSM896573 1 NA ATC T,G 8.236e-06 1:154331052 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 missense_variant 6.592605 0.99136 0.98695 0.706548 0.993996188844544 0 0.999564591733884 TRUE 4.0618e-06 ENSE00001174251_008 ENSE00001174251 008 1 154303483 154303652 + 41 99 30 C G 154303532 3590 50 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCGCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331055 154331056 154331056 exon 9 0.0909090909090909 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCGCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant NA NA NA NA NA 660 1079 1 0.999560026952868 0.999780013476434 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 NA NA 0.199577236325611 0.260531581635704 0.668631791368355 0.769725604495777 NA 0.230054408980657 NA FALSE NA 0.001 -1.47 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 rs202006051 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CCC C,G 8.236e-06 1:154331056 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 synonymous_variant 1.43841 0.59822 0.07344 0.706548 0.611277251401695 0 0.999564591733884 TRUE 4.06124e-06 ENSE00001174251_009 ENSE00001174251 009 1 154303483 154303652 + 41 99 30 C T 154303544 3591 62 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCTCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331067 154331068 154331068 exon 21 0.212121212121212 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCTCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant NA NA NA NA NA 494 141 0.796222022849892 0.801024246670614 0.798623134760253 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 NA NA -0.00420074082449728 0.0619958013534491 0.668631791368355 0.769725604495777 NA 0.0288975302644759 NA FALSE NA 0.976 0.365 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 rs560904506 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCC C,T 3.295e-05 1:154331068 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 synonymous_variant 2.293683 0.98007 0.87631 0.706548 0.723007749227081 0 0.999564591733884 TRUE 1.62447e-05 ENSE00001174251_010 ENSE00001174251 010 1 154303483 154303652 + 41 99 30 A G 154303560 3592 78 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCGCCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331083 154331084 154331084 exon 37 0.373737373737374 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCGCCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 54 17 0.873725583091479 0.85 0.861862791545739 1319 278 0.859062799184243 0.822830147103767 0.840946473144005 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 0.194862756333223 0.191599244021546 0.0586400355098543 0.0838017017866017 0.668631791368355 0.769725604495777 0.193231000177385 0.071220868648228 0.122010131529157 FALSE FALSE 1 9.091 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA CAC A,G 1.647e-05 1:154331084 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 missense_variant 5.982606 0.99145 0.99064 0.706548 0.997767434579004 0 0.999564591733884 TRUE 8.12255e-06 ENSE00001174251_011 ENSE00001174251 011 1 154303483 154303652 + 41 99 30 A G 154303563 3593 81 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCGTTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331086 154331087 154331087 exon 40 0.404040404040404 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCGTTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 125 133 0.845602504376241 0.85 0.84780125218812 210 593 0.956550297359741 0.938685572136464 0.947617934748102 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 0.166739677617985 0.191599244021546 0.156127533685352 0.199657126819299 0.668631791368355 0.769725604495777 0.179169460819766 0.177892330252326 0.00127713056744005 FALSE FALSE 1 7.337 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 rs200971904 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 2.471e-05 1:154331087 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 missense_variant 3.037267 0.98602 0.97572 0.706548 0.907423669786754 0 0.999564591733884 TRUE 8.93437e-05 ENSE00001174251_012 ENSE00001174251 012 1 154303483 154303652 + 41 99 30 T G 154303576 3594 94 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGGTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331099 154331100 154331100 exon -47 0.535353535353535 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGGTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant NA NA NA NA NA 510 1654 0.985057456986066 0.866087167954281 0.925572312470174 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 NA NA 0.184634693311678 0.127058722637116 0.668631791368355 0.769725604495777 NA 0.155846707974397 NA FALSE NA 1 5.88 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA GTT T,G 2.471e-05 1:154331100 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 missense_variant 4.120619 0.98638 0.96918 0.706548 0.995890833925671 0 0.999564591733884 TRUE 1.21832e-05 ENSE00001174251_013 ENSE00001174251 013 1 154303483 154303652 + 41 99 30 G T 154303581 3595 99 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTTTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331104 154331105 154331105 exon -42 0.585858585858586 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTTTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 494 881 0.0106257287136126 0.0324298736936885 0.0215278012036506 NA NA NA NA NA 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 -0.668237098044643 -0.625970882284765 NA NA 0.668631791368355 0.769725604495777 -0.647103990164704 NA NA NA TRUE 1 9.606 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA TGT G,T 1.647e-05 1:154331105 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 missense_variant 6.456261 0.99371 0.99317 0.732398 0.994880215250692 0 0.999564591733884 TRUE 8.12295e-06 ENSE00001174251_014 ENSE00001174251 014 1 154303483 154303652 + 41 99 30 C A 154303586 3596 104 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTAACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331109 154331110 154331110 exon -37 0.636363636363636 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTAACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 174 191 0 0.0414624938899053 0.0207312469449526 413 3362 0 0.00664319006780316 0.00332159503390158 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 -0.678862826758256 -0.616938262088548 -0.800422763674389 -0.732385255249362 0.668631791368355 0.769725604495777 -0.647900544423402 -0.766404009461875 0.118503465038473 TRUE TRUE 1 0.786 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA TCA C,A 8.236e-06 1:154331110 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 synonymous_variant 1.705024 0.95862 0.78122 0.732398 0.714257602106394 0 0.999564591733884 TRUE 4.06121e-06 ENSE00001174251_015 ENSE00001174251 015 1 154303483 154303652 + 41 99 30 C T 154303609 3597 127 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGTCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331132 154331133 154331133 exon -14 0.868686868686869 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGTCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 45 36 0.85 0.85 0.85 1727 115 0.777839312191215 0.880558397055283 0.829198854623249 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 0.171137173241744 0.191599244021546 -0.0225834514831733 0.141529951738118 0.668631791368355 0.769725604495777 0.181368208631645 0.0594732501274723 0.121894958504173 FALSE FALSE 1 7.612 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA GCC C,T 2.471e-05 1:154331133 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 missense_variant 6.104547 0.99341 0.98565 0.732398 0.999106596473872 0 0.999564591733884 TRUE 1.6248e-05 ENSE00001174251_016 ENSE00001174251 016 1 154303483 154303652 + 41 99 30 T C 154303620 3598 138 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACCATGTGAGTGGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331143 154331144 154331144 exon -3 0.97979797979798 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACCATGTGAGTGGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 81 74 0.897855670470228 0.85 0.873927835235114 278 259 0.990243562416706 0.982256689289109 0.986250125852907 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 0.218992843711972 0.191599244021546 0.189820798742317 0.243228243971945 0.668631791368355 0.769725604495777 0.205296043866759 0.216524521357131 0.0112284774903717 FALSE FALSE 1 6.056 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA CTA T,C 2.471e-05 1:154331144 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 missense_variant 5.822163 0.98607 0.97679 0.732398 0.998199156848465 0 0.999564591733884 TRUE 2.43786e-05 ENSE00001174251_017 ENSE00001174251 017 1 154303483 154303652 + 41 99 30 G A 154303629 3599 147 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTAGTTTTCATTCTTCTATTTTGTCC 154331006 154331176 154331152 154331153 154331153 downstr_intron 7 1.24137931034483 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTAGTTTTCATTCTTCTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 59 12 0.926466431596659 0.941899325694503 0.934182878645581 855 665 0.920153866538931 0.999524056644246 0.959838961591589 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 0.247603604838403 0.283498569716049 0.119731102864543 0.260495611327081 0.668631791368355 0.769725604495777 0.265551087277226 0.190113357095812 0.0754377301814142 FALSE FALSE 0.001 -0.776 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA TGG G,A 8.236e-06 1:154331153 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 splice_region_variant 0.193458 0.22518 0.05719 0.106106 0.467894770828287 0.173851 0.999564591733884 TRUE 4.06686e-06 ENSE00001174251_018 ENSE00001174251 018 1 154303483 154303652 + 41 99 30 C G 154303642 3600 160 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTGTATTTTGTCC 154331006 154331176 154331165 154331166 154331166 downstr_intron 20 1.68965517241379 AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTGTATTTTGTCC AGATGGGGCCTCAGAGGCATACTTCTCTTTCTTTTTTTCAGTTGATCCCCCAGATCTCTTCCCTGTCCTGGTTCACCACCATTGTGCCTTTGGTTCTTGTCCTCACCATCACAGCTGTTAAAGATGCCACTGATGACTATGTGAGTGGTTTTCATTCTTCTATTTTGTCC mutant 50 127 0.124932416163769 0.0953301042781602 0.110131260220965 NA NA NA NA NA 0.678862826758256 0.658400755978454 0.800422763674389 0.739028445317165 -0.553930410594487 -0.563070651700293 NA NA 0.668631791368355 0.769725604495777 -0.55850053114739 NA NA NA TRUE 0.001 1.252 . downstream_gene_variant MODIFIER ATP8B2 HGNC 13534 ENST00000368490 1 NA TCT C,G 8.236e-06 1:154331166 ATP8B2 HGNC Symbol protein_coding 25754 ENSG00000143515 ENSE00003677098 intron_variant -0.075457 0.23668 0.16692 0.088506 0.35705155890776 0.0930874 0.999564591733884 TRUE 8.16387e-06 ENSE00001174351_000 ENSE00001174351 000 16 90104123 90104292 + 47 87 36 NA NA NA NA NA CACCGCCAACTGCAGGGCCAGCGTGGTGCCACTCACCTTGGTGAATCGCTGCTCTAACACTTCATGCTCCCACTGCAGGTCTTTCAGCTCTTTCTCCCTGACTTTCAAACGGGCTTTTGTGCACTGGAGGAAAAACAGGGAGTAGGGGACAGAAAGTATTCAAGATTCAC 90037714 90037884 NA NA NA NA NA NA GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG natural 32 25 0.99317364033622 0.997209171929624 0.995191406132922 755 516 0.995598058926601 0.886017116745447 0.940807587836024 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 0 0 0 0 0.995191406132922 0.940807587836024 0 0 0 FALSE FALSE NA NA NA NA NA GAS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAS8 NA NA NA ENSG00000141013 ENSE00003805713 NA NA NA NA NA NA NA 8.03531596883606e-08 FALSE NA ENSE00001174351_001 ENSE00001174351 001 16 90104123 90104292 + 47 87 36 C G 90104137 3626 15 CACCGCCAACTGCAGGGCCAGCGTGGTGCCACTCACCTTGGTGAATCGCTGCTCTAACACTTCATGCTCCCACTGCAGGTCTTTCAGCTCTTTCTCCCTGACTTTCAAACGGGCTTTTGTGCACTGGAGGAAAAACAGGGAGTAGGGGACAGAAACTATTCAAGATTCAC 90037714 90037884 90037728 90037729 90037729 upstr_intron -33 -0.680851063829787 GTGAATCTTGAATAGTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 1195 203 0.973364280923451 0.993961123760178 0.983662702341815 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA -0.0222337780031509 0.107944007014731 0.995191406132922 0.940807587836024 NA 0.04285511450579 NA FALSE NA 0 -0.088 . intron_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 2/3 1 NA ACT C,G 8.236e-06 16:90037729 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 intron_variant 0.217244 0.17972 0.26026 0.099367 0.553215536141205 0.141348 8.03531596883606e-08 FALSE 4.06227e-06 ENSE00001174351_002 ENSE00001174351 002 16 90104123 90104292 + 47 87 36 T C 90104144 3627 22 CACCGCCAACTGCAGGGCCAGCGTGGTGCCACTCACCTTGGTGAATCGCTGCTCTAACACTTCATGCTCCCACTGCAGGTCTTTCAGCTCTTTCTCCCTGACTTTCAAACGGGCTTTTGTGCACTGGAGGAAAAACAGGGAGTAGGGGGCAGAAAGTATTCAAGATTCAC 90037714 90037884 90037735 90037736 90037736 upstr_intron -26 -0.531914893617021 GTGAATCTTGAATACTTTCTGCCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant 36 55 0.901880450603875 0.85 0.875940225301937 NA NA NA NA NA 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 -0.0912931897323457 -0.147209171929624 NA NA 0.995191406132922 0.940807587836024 -0.119251180830985 NA NA NA FALSE 0 -0.748 . intron_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 2/3 1 NA GTC T,C 8.236e-06 16:90037736 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 intron_variant -0.003222 0.16216 0.02752 0.099367 0.584296157060407 0.280586 8.03531596883606e-08 FALSE 8.12255e-06 ENSE00001174351_003 ENSE00001174351 003 16 90104123 90104292 + 47 87 36 C T 90104146 3628 24 GTGAATCTTGAATACTTTCTGTCTCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037737 90037738 90037738 upstr_intron -24 -0.48936170212766 GTGAATCTTGAATACTTTCTGTCTCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 593 158 0.996977084810045 0.998997713297598 0.997987399053822 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA 0.00137902588344396 0.11298059655215 0.995191406132922 0.940807587836024 NA 0.057179811217797 NA FALSE NA 0 -0.132 . intron_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 2/3 1 NA CCC C,T 8.236e-06 16:90037738 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 intron_variant 0.460183 0.17995 0.03426 0.099367 0.697198657350573 0.280586 8.03531596883606e-08 FALSE 4.06131e-06 ENSE00001174351_004 ENSE00001174351 004 16 90104123 90104292 + 47 87 36 C T 90104153 3629 31 GTGAATCTTGAATACTTTCTGTCCCCTACTTCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037744 90037745 90037745 upstr_intron -17 -0.340425531914894 GTGAATCTTGAATACTTTCTGTCCCCTACTTCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 15 105 1 0.962999170959806 0.981499585479903 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA 0.00440194107339853 0.0769820542143589 0.995191406132922 0.940807587836024 NA 0.0406919976438787 NA FALSE NA 0 -0.003 . intron_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 2/3 1 NA TCC C,T 2.471e-05 16:90037745 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 intron_variant 0.46828 0.23163 0.11727 0.099367 0.664461183769769 0.280586 8.03531596883606e-08 FALSE 1.62434e-05 ENSE00001174351_008 ENSE00001174351 008 16 90104123 90104292 + 47 87 36 A C 90104168 3633 46 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCCGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037759 90037760 90037760 upstr_intron -2 -0.0212765957446809 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCCGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant 54 76 0 0 0 NA NA NA NA NA 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 -0.99317364033622 -0.997209171929624 NA NA 0.995191406132922 0.940807587836024 -0.995191406132922 NA NA NA TRUE 1 8.107 . splice_acceptor_variant&non_coding_transcript_variant HIGH GAS8 HGNC 4166 ENST00000569399 2/3 1 NA CAG A,C 8.236e-06 16:90037760 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 splice_acceptor_variant 3.013164 0.99298 0.9976 0.099367 0.984094071068707 0.855402 8.03531596883606e-08 FALSE 4.06075e-06 ENSE00001174351_009 ENSE00001174351 009 16 90104123 90104292 + 47 87 36 C T 90104172 3634 50 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGTACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037763 90037764 90037764 exon 3 0.0344827586206897 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGTACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 180 558 1 1 1 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA 0.00440194107339853 0.113982883254553 0.995191406132922 0.940807587836024 NA 0.0591924121639755 NA FALSE NA 0.811 -0.012 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW GAS8 HGNC 4166 ENST00000569399 3/4 1 NA GCA C,T 8.236e-06 16:90037764 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 splice_region_variant 0.31146 0.95106 0.4446 0.706548 0.608923278233928 0 8.03531596883606e-08 FALSE 4.06068e-06 ENSE00001174351_011 ENSE00001174351 011 16 90104123 90104292 + 47 87 36 C T 90104181 3636 59 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCTCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037772 90037773 90037773 exon 12 0.137931034482759 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCTCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 153 67 1 1 1 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA 0.00440194107339853 0.113982883254553 0.995191406132922 0.940807587836024 NA 0.0591924121639755 NA FALSE NA 0.433 -0.386 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 3/4 1 NA CCC C,T 1.647e-05 16:90037773 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 synonymous_variant 1.001363 0.49359 0.09202 0.706548 0.7500432108869 0 8.03531596883606e-08 FALSE 8.12137e-06 ENSE00001174351_012 ENSE00001174351 012 16 90104123 90104292 + 47 87 36 C T 90104182 3637 60 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCTGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037773 90037774 90037774 exon 13 0.149425287356322 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCTGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 968 602 1 0.993311353845062 0.996655676922531 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA 0.00440194107339853 0.107294237099614 0.995191406132922 0.940807587836024 NA 0.0558480890865065 NA FALSE NA 0.991 3.092 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 3/4 1 NA CCG C,T 3.295e-05 16:90037774 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 missense_variant 6.876457 0.98806 0.95033 0.706548 0.99917234652281 0 8.03531596883606e-08 FALSE 2.03032e-05 ENSE00001174351_016 ENSE00001174351 016 16 90104123 90104292 + 47 87 36 A T 90104204 3641 82 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGTGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037795 90037796 90037796 exon 35 0.402298850574713 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGTGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 203 15 1 1 1 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA 0.00440194107339853 0.113982883254553 0.995191406132922 0.940807587836024 NA 0.0591924121639755 NA FALSE NA 1 6.522 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 3/4 1 NA GAG A,T 8.236e-06 16:90037796 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 missense_variant 4.258048 0.981 0.9855 0.706548 0.990831613685442 0 8.03531596883606e-08 FALSE 4.06062e-06 ENSE00001174351_017 ENSE00001174351 017 16 90104123 90104292 + 47 87 36 C G 90104206 3642 84 CACCGCCAACTGCAGGGCCAGCGTGGTGCCACTCACCTTGGTGAATCGCTGCTCTAACACTTCATGCTCCCACTGCAGGTCTTTCACCTCTTTCTCCCTGACTTTCAAACGGGCTTTTGTGCACTGGAGGAAAAACAGGGAGTAGGGGACAGAAAGTATTCAAGATTCAC 90037714 90037884 90037797 90037798 90037798 exon 37 0.425287356321839 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGGTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 539 362 0.995960793689434 0.853786173801672 0.924873483745553 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA 0.000362734762832218 -0.0322309429437759 0.995191406132922 0.940807587836024 NA -0.0159341040904719 NA FALSE NA 0.52 0.515 rs142757699 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 3/4 rs142757699 1 NA G:0.0002 G:0 GCT C,G 8.236e-06 16:90037798 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 missense_variant 0.580314 0.96569 0.88262 0.706548 0.977541715255437 0 8.03531596883606e-08 FALSE 4.06065e-06 ENSE00001174351_024 ENSE00001174351 024 16 90104123 90104292 + 47 87 36 C T 90104245 3649 123 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGTGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037836 90037837 90037837 exon -12 0.873563218390805 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGTGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant 64 115 0.85 0.85 0.85 NA NA NA NA NA 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 -0.14317364033622 -0.147209171929624 NA NA 0.995191406132922 0.940807587836024 -0.145191406132922 NA NA NA FALSE 0.988 0.661 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 3/4 1 NA GCG C,T 3.295e-05 16:90037837 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 stop_gained 11.763025 0.9741 0.96605 0.706548 0.996543763478464 0 8.03531596883606e-08 FALSE 3.65497e-05 ENSE00001174351_027 ENSE00001174351 027 16 90104123 90104292 + 47 87 36 G C 90104256 3652 134 CACCGCCAACTGCAGGGCCAGCGTGGTGCCACTCACGTTGGTGAATCGCTGCTCTAACACTTCATGCTCCCACTGCAGGTCTTTCAGCTCTTTCTCCCTGACTTTCAAACGGGCTTTTGTGCACTGGAGGAAAAACAGGGAGTAGGGGACAGAAAGTATTCAAGATTCAC 90037714 90037884 90037847 90037848 90037848 exon -1 1 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAACGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant 37 34 0 0 0 NA NA NA NA NA 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 -0.99317364033622 -0.997209171929624 NA NA 0.995191406132922 0.940807587836024 -0.995191406132922 NA NA NA TRUE 1 5.683 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW GAS8 HGNC 4166 ENST00000569399 3/4 rs374307390 1 NA C:0 C:0.0001 AGG G,C 8.236e-06 16:90037848 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 missense_variant 4.795523 0.9939 0.99404 0.706548 0.993427661112093 0 8.03531596883606e-08 FALSE 4.06134e-06 ENSE00001174351_028 ENSE00001174351 028 16 90104123 90104292 + 47 87 36 T C 90104258 3653 136 CACCGCCAACTGCAGGGCCAGCGTGGTGCCACTCGCCTTGGTGAATCGCTGCTCTAACACTTCATGCTCCCACTGCAGGTCTTTCAGCTCTTTCTCCCTGACTTTCAAACGGGCTTTTGTGCACTGGAGGAAAAACAGGGAGTAGGGGACAGAAAGTATTCAAGATTCAC 90037714 90037884 90037849 90037850 90037850 downstr_intron 2 1.05714285714286 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGCGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant 296 65 0 0 0 NA NA NA NA NA 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 -0.99317364033622 -0.997209171929624 NA NA 0.995191406132922 0.940807587836024 -0.995191406132922 NA NA NA TRUE 1 4.328 rs151044905 splice_donor_variant&non_coding_transcript_variant HIGH GAS8 HGNC 4166 ENST00000569399 3/3 1 NA GTG T,C 8.236e-06 16:90037850 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 splice_donor_variant 2.408793 0.98492 0.98204 0.156188 0.943608669153647 0.754022 8.03531596883606e-08 FALSE 8.12262e-06 ENSE00001174351_029 ENSE00001174351 029 16 90104123 90104292 + 47 87 36 T G 90104262 3654 140 CACCGCCAACTGCAGGGCCAGCGTGGTGCCCCTCACCTTGGTGAATCGCTGCTCTAACACTTCATGCTCCCACTGCAGGTCTTTCAGCTCTTTCTCCCTGACTTTCAAACGGGCTTTTGTGCACTGGAGGAAAAACAGGGAGTAGGGGACAGAAAGTATTCAAGATTCAC 90037714 90037884 90037853 90037854 90037854 downstr_intron 6 1.17142857142857 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGGGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant 60 61 0 0 0 NA NA NA NA NA 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 -0.99317364033622 -0.997209171929624 NA NA 0.995191406132922 0.940807587836024 -0.995191406132922 NA NA NA TRUE 0.219 -2.322 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW GAS8 HGNC 4166 ENST00000569399 3/3 1 NA GTG C,G 8.236e-06 16:90037854 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 splice_region_variant -0.4386 0.14634 0.01654 0.156188 0.359185449920531 0.0905466 8.03531596883606e-08 FALSE 4.06151e-06 ENSE00001174351_030 ENSE00001174351 030 16 90104123 90104292 + 47 87 36 G C 90104263 3655 141 CACCGCCAACTGCAGGGCCAGCGTGGTGCGACTCACCTTGGTGAATCGCTGCTCTAACACTTCATGCTCCCACTGCAGGTCTTTCAGCTCTTTCTCCCTGACTTTCAAACGGGCTTTTGTGCACTGGAGGAAAAACAGGGAGTAGGGGACAGAAAGTATTCAAGATTCAC 90037714 90037884 90037854 90037855 90037855 downstr_intron 7 1.2 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTCGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant 132 100 0.85 0.85 0.85 NA NA NA NA NA 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 -0.14317364033622 -0.147209171929624 NA NA 0.995191406132922 0.940807587836024 -0.145191406132922 NA NA NA FALSE 0.086 -0.353 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW GAS8 HGNC 4166 ENST00000569399 3/3 rs377407115 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0011 C:0 TGG G,C 0.0001812 16:90037855 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 splice_region_variant -0.264554 0.23053 0.02909 0.156188 0.587860154919093 0.0971326 8.03531596883606e-08 FALSE 0.000162481 ENSE00001174351_031 ENSE00001174351 031 16 90104123 90104292 + 47 87 36 C T 90104270 3656 148 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCATGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 90037861 90037862 90037862 downstr_intron 14 1.4 GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCATGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG mutant NA NA NA NA NA 69 549 1 1 1 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 NA NA 0.00440194107339853 0.113982883254553 0.995191406132922 0.940807587836024 NA 0.0591924121639755 NA FALSE NA 0 -0.421 rs182929398 intron_variant&non_coding_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000569399 3/3 rs182929398 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACG G,T 4.118e-05 16:90037862 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003805713 intron_variant 0.349341 0.08344 0.00217 0.156188 0.96116249693497 0.049175 8.03531596883606e-08 FALSE 2.43776e-05 ENSE00001174351_BRK ENSE00001174351 BRK 16 90104123 90104292 + 47 87 36 A,G; T,T NA NA NA GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCTTTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGCCGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG 90037714 90037884 NA NA NA NA NA NA GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCTTTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGCCGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG GTGAATCTTGAATACTTTCTGTCCCCTACTCCCTGTTTTTCCTCCAGTGCACAAAAGCCCGTTTGAAAGTCAGGGAGAAAGAGCTGAAAGACCTGCAGTGGGAGCATGAAGTGTTAGAGCAGCGATTCACCAAGGTGAGTGGCACCACGCTGGCCCTGCAGTTGGCGGTG control 37 50 0 0 0 NA NA NA NA NA 0.99317364033622 0.997209171929624 0.995598058926601 0.886017116745447 -0.99317364033622 -0.997209171929624 NA NA 0.995191406132922 0.940807587836024 -0.995191406132922 NA NA NA TRUE NA NA NA NA NA GAS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAS8 NA NA NA ENSG00000141013 ENSE00003805713 NA NA NA NA NA NA NA 8.03531596883606e-08 FALSE NA ENSE00001178937_000 ENSE00001178937 000 1 57528507 57528676 - 50 60 60 NA NA NA NA NA TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC 57062833 57063003 NA NA NA NA NA NA TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC natural NA NA NA NA NA 1345 2551 0.974055390824606 0.997497882324494 0.98577663657455 NA NA 0.974055390824606 0.997497882324494 NA NA 0 0 NA 0.98577663657455 NA 0 NA FALSE NA NA NA NA NA NA DAB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DAB1 NA NA NA ENSG00000173406 ENSE00001178937 NA NA NA NA NA NA NA 0.98140856728469 TRUE NA ENSE00001178937_007 ENSE00001178937 007 1 57528507 57528676 - 50 60 60 C G 57528562 2043 115 TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTCTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC 57062833 57063003 57062888 57062889 57062889 exon -6 0.916666666666667 TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTCTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC mutant NA NA NA NA NA 762 740 0.998587292134372 0.999948555489887 0.99926792381213 NA NA 0.974055390824606 0.997497882324494 NA NA 0.0245319013097659 0.00245067316539338 NA 0.98577663657455 NA 0.0134912872375796 NA FALSE NA 1 2.739 rs141893131 missense_variant MODERATE DAB1 HGNC 2661 ENST00000414851 6/13 rs141893131 1 benign(0.008) NA G:0 G:0.0005 ACA C,G 0.000313 1:57062889 DAB1 HGNC Symbol protein_coding 1551956 ENSG00000173406 ENSE00001178937 splice_donor_variant 3.167332 0.98724 0.98083 0.638212 0.992398416870692 0 0.98140856728469 TRUE 0.000459394 ENSE00001178937_010 ENSE00001178937 010 1 57528507 57528676 - 50 60 60 T C 57528575 2046 102 TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCGAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC 57062833 57063003 57062901 57062902 57062902 exon -19 0.7 TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCGAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC mutant NA NA NA NA NA 57 380 1 0.99817668627688 0.99908834313844 NA NA 0.974055390824606 0.997497882324494 NA NA 0.0259446091753941 0.00067880395238662 NA 0.98577663657455 NA 0.0133117065638904 NA FALSE NA 1 3.498 . synonymous_variant LOW DAB1 HGNC 2661 ENST00000414851 6/13 rs368297897 1 NA C:0 C:0.0001 TTG T,C 8.236e-06 1:57062902 DAB1 HGNC Symbol protein_coding 1551956 ENSG00000173406 ENSE00001178937 synonymous_variant 0.508997 0.98568 0.98252 0.638212 0.811027969790804 0 0.98140856728469 TRUE 4.06471e-06 ENSE00001178937_016 ENSE00001178937 016 1 57528507 57528676 - 50 60 60 A C 57528631 2052 46 TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATGTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC 57062833 57063003 57062957 57062958 57062958 upstr_intron -15 -0.233333333333333 TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATGTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC mutant NA NA NA NA NA 111 532 1 1 1 NA NA 0.974055390824606 0.997497882324494 NA NA 0.0259446091753941 0.00250211767550612 NA 0.98577663657455 NA 0.0142233634254501 NA FALSE NA 0.995 2.395 . intron_variant MODIFIER DAB1 HGNC 2661 ENST00000414851 5/12 1 NA AAA A,C 8.236e-06 1:57062958 DAB1 HGNC Symbol protein_coding 1551956 ENSG00000173406 ENSE00001178937 intron_variant -0.088238 0.36632 0.88424 0.061011 0.732361179979433 0.153901 0.98140856728469 TRUE 4.07302e-06 ENSE00001178937_019 ENSE00001178937 019 1 57528507 57528676 - 50 60 60 C T 57528649 2055 28 TGTTCTTTGAAATTGGAGTACCAGAGTATTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC 57062833 57063003 57062975 57062976 57062976 upstr_intron -33 -0.533333333333333 TGTTCTTTGAAATTGGAGTACCAGAGTATTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC TGTTCTTTGAAATTGGAGTACCAGAGTGTTTTGACTGTGCTGAATTTAATTTTTCCATAGGTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTAAGTGTAAGTACATCTCCTCTCCACTGCCAGGTTTCCGTGACCTGGATTCACAC mutant NA NA NA NA NA 43 681 1 1 1 NA NA 0.974055390824606 0.997497882324494 NA NA 0.0259446091753941 0.00250211767550612 NA 0.98577663657455 NA 0.0142233634254501 NA FALSE NA 0.001 0.195 . intron_variant MODIFIER DAB1 HGNC 2661 ENST00000414851 5/12 1 NA ACA C,T 4.118e-05 1:57062976 DAB1 HGNC Symbol protein_coding 1551956 ENSG00000173406 ENSE00001178937 intron_variant 2.023545 0.18032 0.04968 0.061011 0.841645607361085 0.213871 0.98140856728469 TRUE 2.87163e-05 ENSE00001179600_000 ENSE00001179600 000 15 100802519 100802688 - 38 84 48 NA NA NA NA NA TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 NA NA NA NA NA NA TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT natural NA NA NA NA NA 2756 3062 0.995660351959787 0.920696388671364 0.958178370315576 NA NA 0.995660351959787 0.920696388671364 NA NA 0 0 NA 0.958178370315576 NA 0 NA FALSE NA NA NA NA NA NA ADAMTS17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS17 NA NA NA ENSG00000140470 ENSE00003568657 NA NA NA NA NA NA NA 3.82852764002745e-11 FALSE NA ENSE00001179600_001 ENSE00001179600 001 15 100802519 100802688 - 38 84 48 G C 100802534 2661 155 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTGAAGCAAGCAGAAAAT 100262313 100262483 100262328 100262329 100262329 downstr_intron 23 1.62162162162162 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTGAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 477 176 1 1 1 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0793036113286356 NA 0.958178370315576 NA 0.0418216296844243 NA FALSE NA 0 -0.174 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 5/21 1 NA TGA G,C 8.236e-06 15:100262329 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant -0.064561 0.1753 0.03881 0.061011 0.64598556698174 0.0448725 3.82852764002745e-11 FALSE 4.06971e-06 ENSE00001179600_002 ENSE00001179600 002 15 100802519 100802688 - 38 84 48 T A 100802540 2662 149 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCTCCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262334 100262335 100262335 downstr_intron 17 1.45945945945946 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCTCCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 258 2151 0.999840381813862 0.908717766073737 0.954279073943799 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00418002985407528 -0.0119786225976278 NA 0.958178370315576 NA -0.00389929637177627 NA FALSE NA 0 -3.069 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 5/21 rs200234837 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GTG T,A 8.236e-06 15:100262335 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant 0.074451 0.1114 0.02188 0.061011 0.503682744414385 0.0448725 3.82852764002745e-11 FALSE 4.06415e-06 ENSE00001179600_003 ENSE00001179600 003 15 100802519 100802688 - 38 84 48 T G 100802546 2663 143 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCCCAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262340 100262341 100262341 downstr_intron 11 1.2972972972973 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCCCAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 60 68 1 0.994199683317999 0.997099841659 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.073503294646635 NA 0.958178370315576 NA 0.038921471343424 NA FALSE NA 0 -2.396 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 5/21 1 NA GTG T,G 8.236e-06 15:100262341 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant 0.028157 0.20426 0.03013 0.061011 0.340960254783664 0.0448725 3.82852764002745e-11 FALSE 4.06286e-06 ENSE00001179600_004 ENSE00001179600 004 15 100802519 100802688 - 38 84 48 G A 100802547 2664 142 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCTACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262341 100262342 100262342 downstr_intron 10 1.27027027027027 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCTACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 686 1125 0.874219365360041 0.992179264421481 0.933199314890761 NA NA 0.995660351959787 0.920696388671364 NA NA -0.121440986599746 0.0714828757501167 NA 0.958178370315576 NA -0.0249790554248147 NA FALSE NA 0 -0.263 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 5/21 1 NA TGG G,A 1.647e-05 15:100262342 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant 0.306608 0.23747 0.0602 0.061011 0.628697832689317 0.052078 3.82852764002745e-11 FALSE 1.21894e-05 ENSE00001179600_006 ENSE00001179600 006 15 100802519 100802688 - 38 84 48 T C 100802554 2666 135 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTGAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262348 100262349 100262349 downstr_intron 3 1.08108108108108 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTGAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 50 688 1 0.907336863975954 0.953668431987977 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 -0.0133595246954101 NA 0.958178370315576 NA -0.00450993832759855 NA FALSE NA 1 0.634 . splice_region_variant&intron_variant LOW ADAMTS17 HGNC 17109 ENST00000268070 5/21 1 NA TTA T,C 8.236e-06 15:100262349 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 splice_region_variant 0.478623 0.97199 0.72439 0.061011 0.657139317174104 0.33382 3.82852764002745e-11 FALSE 4.06177e-06 ENSE00001179600_008 ENSE00001179600 008 15 100802519 100802688 - 38 84 48 G A 100802559 2668 130 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTTCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262353 100262354 100262354 exon -3 0.976190476190476 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTTCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 28 14 1 1 1 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0793036113286356 NA 0.958178370315576 NA 0.0418216296844243 NA FALSE NA 1 7.823 . missense_variant&splice_region_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 deleterious(0.01) probably_damaging(0.998) NA GGA G,A 8.236e-06 15:100262354 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 3.093402 0.99297 0.99372 0.487112 0.990717779020708 0 3.82852764002745e-11 FALSE 4.06161e-06 ENSE00001179600_010 ENSE00001179600 010 15 100802519 100802688 - 38 84 48 G A 100802562 2670 127 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAATGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262356 100262357 100262357 exon -6 0.94047619047619 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAATGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 321 746 0.997538357592141 0.99288015167338 0.99520925463276 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00187800563235418 0.0721837630020152 NA 0.958178370315576 NA 0.0370308843171847 NA FALSE NA 1 7.823 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 deleterious(0.03) probably_damaging(0.997) NA CGT G,A 8.236e-06 15:100262357 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 6.345341 0.99287 0.99377 0.487112 0.998807189120875 0 3.82852764002745e-11 FALSE 1.2184e-05 ENSE00001179600_012 ENSE00001179600 012 15 100802519 100802688 - 38 84 48 C T 100802567 2672 122 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACAACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262361 100262362 100262362 exon -11 0.880952380952381 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACAACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 548 250 0.992028159124053 1 0.996014079562026 NA NA 0.995660351959787 0.920696388671364 NA NA -0.00363219283573391 0.0793036113286356 NA 0.958178370315576 NA 0.0378357092464509 NA FALSE NA 0.991 0.383 rs143480636 missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 rs143480636 1 tolerated(0.34) benign(0.004) NA T:0.0002 T:0.0001 TCG T,T 5.765e-05 15:100262362 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 0.609071 0.27777 0.36285 0.487112 0.758879294131088 0 3.82852764002745e-11 FALSE 6.49709e-05 ENSE00001179600_016 ENSE00001179600 016 15 100802519 100802688 - 38 84 48 G T 100802580 2676 109 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGATTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262374 100262375 100262375 exon -24 0.726190476190476 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGATTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 592 596 0.827180898194843 0.804277535813994 0.815729217004419 NA NA 0.995660351959787 0.920696388671364 NA NA -0.168479453764944 -0.11641885285737 NA 0.958178370315576 NA -0.142449153311157 NA FALSE NA 1 6.131 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 deleterious(0) probably_damaging(0.99) NA AGC G,T 1.647e-05 15:100262375 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 6.204926 0.98944 0.97337 0.553676 0.995059505313884 0 3.82852764002745e-11 FALSE 8.1211e-06 ENSE00001179600_017 ENSE00001179600 017 15 100802519 100802688 - 38 84 48 T G 100802583 2677 106 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCCAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262377 100262378 100262378 exon -27 0.69047619047619 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCCAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 85 2016 1 0.993375904767682 0.996687952383841 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.072679516096318 NA 0.958178370315576 NA 0.0385095820682655 NA FALSE NA 1 6.428 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 rs545664488 1 deleterious(0) probably_damaging(0.919) NA TTG T,G 4.942e-05 15:100262378 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 5.569302 0.98602 0.96635 0.553676 0.993795982757757 0 3.82852764002745e-11 FALSE 5.68482e-05 ENSE00001179600_019 ENSE00001179600 019 15 100802519 100802688 - 38 84 48 T C 100802595 2679 94 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACGTTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262389 100262390 100262390 exon -39 0.547619047619048 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACGTTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 127 339 0.985178296805186 0.993411735425641 0.989295016115413 NA NA 0.995660351959787 0.920696388671364 NA NA -0.0104820551546014 0.0727153467542766 NA 0.958178370315576 NA 0.0311166457998376 NA FALSE NA 1 2.963 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 deleterious(0.05) benign(0.01) NA ATG T,C 8.236e-06 15:100262390 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 2.876178 0.98139 0.9058 0.553676 0.994624402981324 0 3.82852764002745e-11 FALSE 8.1213e-06 ENSE00001179600_020 ENSE00001179600 020 15 100802519 100802688 - 38 84 48 T C 100802601 2680 88 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAGTTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262395 100262396 100262396 exon 40 0.476190476190476 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAGTTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 481 932 1 1 1 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0793036113286356 NA 0.958178370315576 NA 0.0418216296844243 NA FALSE NA 1 1.422 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 tolerated(1) benign(0.001) NA ATT T,C 8.236e-06 15:100262396 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant -0.112109 0.96951 0.37418 0.553676 0.494447643889787 0 3.82852764002745e-11 FALSE 4.06062e-06 ENSE00001179600_021 ENSE00001179600 021 15 100802519 100802688 - 38 84 48 A C 100802605 2681 84 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATGAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262399 100262400 100262400 exon 36 0.428571428571429 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATGAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 264 210 1 1 1 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0793036113286356 NA 0.958178370315576 NA 0.0418216296844243 NA FALSE NA 1 1.018 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 tolerated(0.24) benign(0.011) NA TAA A,C 8.236e-06 15:100262400 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 1.369081 0.97276 0.77638 0.553676 0.888995682053814 0 3.82852764002745e-11 FALSE NA ENSE00001179600_022 ENSE00001179600 022 15 100802519 100802688 - 38 84 48 C T 100802608 2682 81 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGAATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262402 100262403 100262403 exon 33 0.392857142857143 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGAATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 319 174 1 0.988691436521498 0.994345718260749 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0679950478501333 NA 0.958178370315576 NA 0.0361673479451732 NA FALSE NA 0.917 -0.133 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:100262403 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 synonymous_variant 1.664591 0.8267 0.19629 0.553676 0.602939684887899 0 3.82852764002745e-11 FALSE 4.06075e-06 ENSE00001179600_023 ENSE00001179600 023 15 100802519 100802688 - 38 84 48 C G 100802608 2683 81 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGCATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262402 100262403 100262403 exon 33 0.392857142857143 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGCATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 18 35 1 1 1 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0793036113286356 NA 0.958178370315576 NA 0.0418216296844243 NA FALSE NA 0.917 -0.133 NA NA NA ADAMTS17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS17 NA NA NA ENSG00000140470 ENSE00003568657 synonymous_variant 1.48952 0.86147 0.53473 0.553676 0.637910912040551 0 3.82852764002745e-11 FALSE 4.06075e-06 ENSE00001179600_024 ENSE00001179600 024 15 100802519 100802688 - 38 84 48 C T 100802609 2684 80 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGAGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262403 100262404 100262404 exon 32 0.380952380952381 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGAGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 176 50 0.99906092259909 1 0.999530461299545 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00340057063930344 0.0793036113286356 NA 0.958178370315576 NA 0.0413520909839695 NA FALSE NA 1 6.253 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 deleterious(0) probably_damaging(1) NA CCC C,T 8.236e-06 15:100262404 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 6.916782 0.99322 0.97163 0.553676 0.998293201876629 0 3.82852764002745e-11 FALSE 4.06078e-06 ENSE00001179600_025 ENSE00001179600 025 15 100802519 100802688 - 38 84 48 G A 100802613 2685 76 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCTTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262407 100262408 100262408 exon 28 0.333333333333333 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCTTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 1827 684 0.845467647473516 0.958100923874904 0.90178428567421 NA NA 0.995660351959787 0.920696388671364 NA NA -0.150192704486271 0.0374045352035397 NA 0.958178370315576 NA -0.0563940846413656 NA FALSE NA 1 6.11 . synonymous_variant LOW ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 NA AGG G,A 8.236e-06 15:100262408 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 synonymous_variant 1.257586 0.98861 0.95533 0.553676 0.81852353653358 0 3.82852764002745e-11 FALSE 8.12137e-06 ENSE00001179600_026 ENSE00001179600 026 15 100802519 100802688 - 38 84 48 C G 100802615 2686 74 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGACCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262409 100262410 100262410 exon 26 0.30952380952381 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGACCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 758 106 0.987209241969886 1 0.993604620984943 NA NA 0.995660351959787 0.920696388671364 NA NA -0.00845110998990084 0.0793036113286356 NA 0.958178370315576 NA 0.0354262506693674 NA FALSE NA 1 4.625 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 deleterious(0.04) benign(0.026) NA GCT C,G 8.236e-06 15:100262410 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 2.89127 0.98932 0.94141 0.553676 0.96542475673075 0 3.82852764002745e-11 FALSE 4.06062e-06 ENSE00001179600_027 ENSE00001179600 027 15 100802519 100802688 - 38 84 48 C G 100802617 2687 72 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCACAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262411 100262412 100262412 exon 24 0.285714285714286 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCACAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 2246 1219 0.979885118542638 1 0.989942559271319 NA NA 0.995660351959787 0.920696388671364 NA NA -0.0157752334171491 0.0793036113286356 NA 0.958178370315576 NA 0.0317641889557432 NA FALSE NA 0.997 0.357 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 tolerated(0.1) benign(0.001) NA TCT C,G 8.236e-06 15:100262412 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 2.565992 0.97461 0.80932 0.553676 0.988718675122534 0 3.82852764002745e-11 FALSE 4.06072e-06 ENSE00001179600_028 ENSE00001179600 028 15 100802519 100802688 - 38 84 48 G T 100802622 2688 67 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGAACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262416 100262417 100262417 exon 19 0.226190476190476 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGAACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 270 1135 0.878619902092566 0.99465592637504 0.936637914233803 NA NA 0.995660351959787 0.920696388671364 NA NA -0.117040449867221 0.0739595377036751 NA 0.958178370315576 NA -0.0215404560817731 NA FALSE NA 1 7.879 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 tolerated(0.08) probably_damaging(0.985) NA TGC G,T 1.647e-05 15:100262417 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 4.80599 0.99355 0.98471 0.553676 0.983486688353201 0 3.82852764002745e-11 FALSE 8.12216e-06 ENSE00001179600_029 ENSE00001179600 029 15 100802519 100802688 - 38 84 48 T C 100802633 2689 56 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAGTATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262427 100262428 100262428 exon 8 0.0952380952380952 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAGTATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 1140 141 1 1 1 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0793036113286356 NA 0.958178370315576 NA 0.0418216296844243 NA FALSE NA 1 6.428 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 tolerated(0.1) probably_damaging(0.986) NA ATT T,C 1.647e-05 15:100262428 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 4.013237 0.991 0.96833 0.553676 0.994011003242395 0 3.82852764002745e-11 FALSE 1.21838e-05 ENSE00001179600_030 ENSE00001179600 030 15 100802519 100802688 - 38 84 48 A G 100802637 2690 52 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTACACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262431 100262432 100262432 exon 4 0.0476190476190476 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTACACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 468 977 0.996709253908531 0.995820224540291 0.996264739224411 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00104890194874363 0.0751238358689266 NA 0.958178370315576 NA 0.0380863689088351 NA FALSE NA 1 5.679 . missense_variant MODERATE ADAMTS17 HGNC 17109 ENST00000268070 5/22 1 tolerated(0.24) possibly_damaging(0.639) NA TAT A,G 1.647e-05 15:100262432 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 missense_variant 3.648266 0.98615 0.96326 0.553676 0.997324088699368 0 3.82852764002745e-11 FALSE 8.12321e-06 ENSE00001179600_032 ENSE00001179600 032 15 100802519 100802688 - 38 84 48 T C 100802642 2692 47 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATGGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262436 100262437 100262437 upstr_intron -2 -0.0208333333333333 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATGGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant 88 25 0 0 0 798 715 0.00122738063920231 0.00354210854989589 0.0023847445945491 NA NA 0.995660351959787 0.920696388671364 NA NA -0.994432971320585 -0.917154280121468 NA 0.958178370315576 NA -0.955793625721027 NA TRUE NA 1 6.428 . splice_acceptor_variant HIGH ADAMTS17 HGNC 17109 ENST00000268070 4/21 1 NA HC CTA T,C 8.236e-06 15:100262437 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 splice_acceptor_variant 3.884467 0.98531 0.96075 0.061011 0.962690345479691 0.895611 3.82852764002745e-11 FALSE 4.06379e-06 ENSE00001179600_033 ENSE00001179600 033 15 100802519 100802688 - 38 84 48 G T 100802648 2693 41 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTATTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262442 100262443 100262443 upstr_intron -8 -0.145833333333333 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTATTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 734 1143 0.999115584338252 0.999498998400986 0.999307291369619 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00345523237846468 0.0788026097296214 NA 0.958178370315576 NA 0.041128921054043 NA FALSE NA 0.454 0.789 . splice_region_variant&intron_variant LOW ADAMTS17 HGNC 17109 ENST00000268070 4/21 1 NA AGA G,T 2.471e-05 15:100262443 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 splice_region_variant -0.171865 0.24812 0.38811 0.061011 0.46153538543184 0.127744 3.82852764002745e-11 FALSE 2.44157e-05 ENSE00001179600_034 ENSE00001179600 034 15 100802519 100802688 - 38 84 48 A G 100802649 2694 40 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGCCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262443 100262444 100262444 upstr_intron -9 -0.166666666666667 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGCCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 438 167 0.994123812450231 0.983391790612156 0.988757801531193 NA NA 0.995660351959787 0.920696388671364 NA NA -0.00153653950955634 0.0626954019407914 NA 0.958178370315576 NA 0.0305794312156175 NA FALSE NA 0.499 3.329 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 4/21 1 NA GAC A,G 8.236e-06 15:100262444 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant 0.48999 0.45427 0.40811 0.061011 0.787905433299754 0.925247 3.82852764002745e-11 FALSE 4.06676e-06 ENSE00001179600_035 ENSE00001179600 035 15 100802519 100802688 - 38 84 48 C G 100802650 2695 39 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTCTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262444 100262445 100262445 upstr_intron -10 -0.1875 TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTCTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 773 31 1 1 1 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0793036113286356 NA 0.958178370315576 NA 0.0418216296844243 NA FALSE NA 0.04 -0.09 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 4/21 rs370066169 1 NA G:0 G:0.0001 ACA C,G 1.647e-05 15:100262445 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant 0.028626 0.18396 0.00316 0.061011 0.568866359582809 0.184854 3.82852764002745e-11 FALSE 1.63084e-05 ENSE00001179600_037 ENSE00001179600 037 15 100802519 100802688 - 38 84 48 A T 100802657 2697 32 TAAAATTTTTTATCTTTATATCTTTATTTCTATTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262451 100262452 100262452 upstr_intron -17 -0.333333333333333 TAAAATTTTTTATCTTTATATCTTTATTTCTATTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 331 308 0.99824625472931 0.94902588160473 0.97363606816702 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00258590276952286 0.0283294929333653 NA 0.958178370315576 NA 0.0154576978514441 NA FALSE NA 0.003 -0.081 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 4/21 1 NA AAA A,T 7.414e-05 15:100262452 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant -0.425007 0.29551 0.03685 0.061011 0.563034659173869 0.115161 3.82852764002745e-11 FALSE 4.07618e-05 ENSE00001179600_038 ENSE00001179600 038 15 100802519 100802688 - 38 84 48 G A 100802667 2698 22 TAAAATTTTTTATCTTTATATTTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262461 100262462 100262462 upstr_intron -27 -0.541666666666667 TAAAATTTTTTATCTTTATATTTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 30 39 1 1 1 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00433964804021303 0.0793036113286356 NA 0.958178370315576 NA 0.0418216296844243 NA FALSE NA 0 0.068 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 4/21 1 NA AGA G,A 1.65e-05 15:100262462 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant 0.394358 0.25638 0.09997 0.061011 0.500828870121189 0.658473 3.82852764002745e-11 FALSE 8.3212e-06 ENSE00001179600_039 ENSE00001179600 039 15 100802519 100802688 - 38 84 48 A G 100802672 2699 17 TAAAATTTTTTATCTTCATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 100262466 100262467 100262467 upstr_intron -32 -0.645833333333333 TAAAATTTTTTATCTTCATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT mutant NA NA NA NA NA 1617 80 0.999003352882497 1 0.999501676441248 NA NA 0.995660351959787 0.920696388671364 NA NA 0.00334300092270956 0.0793036113286356 NA 0.958178370315576 NA 0.0413233061256726 NA FALSE NA 0.001 -0.159 . intron_variant MODIFIER ADAMTS17 HGNC 17109 ENST00000268070 4/21 1 NA TAA A,G 8.273e-06 15:100262467 ADAMTS17 HGNC Symbol protein_coding 370416 ENSG00000140470 ENSE00003568657 intron_variant -0.017137 0.20641 0.04732 0.061011 0.740123985323476 0.0665926 3.82852764002745e-11 FALSE 4.27657e-06 ENSE00001179600_BRK ENSE00001179600 BRK 15 100802519 100802688 - 38 84 48 A,G; T,T NA NA NA TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATTTGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCCCAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT 100262313 100262483 NA NA NA NA NA NA TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATTTGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCCCAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT TAAAATTTTTTATCTTTATATCTTTATTTCTTTTTTCTGTCTTGATAGGTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAAGTGACCAAGCTTGTCCTGCTACGACAACGTCCCGTAAGTCCCCACAGGCACCTTTCAAGCAAGCAGAAAAT control NA NA NA NA NA 456 367 0.153198983081867 0 0.0765994915409336 NA NA 0.995660351959787 0.920696388671364 NA NA -0.84246136887792 -0.920696388671364 NA 0.958178370315576 NA -0.881578878774642 NA TRUE NA NA NA NA NA NA ADAMTS17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS17 NA NA NA ENSG00000140470 ENSE00003568657 NA NA NA NA NA NA NA 3.82852764002745e-11 FALSE NA ENSE00001182717_000 ENSE00001182717 000 15 44127214 44127383 + 45 90 35 NA NA NA NA NA GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG 43835015 43835185 NA NA NA NA NA NA GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG natural NA NA NA NA NA 755 523 0.987380824399531 0.991660753655422 0.989520789027477 NA NA 0.987380824399531 0.991660753655422 NA NA 0 0 NA 0.989520789027477 NA 0 NA FALSE NA NA NA NA NA NA WDR76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR76 NA NA NA ENSG00000092470 ENSE00001182717 NA NA NA NA NA NA NA 0.00230519074795657 FALSE NA ENSE00001182717_003 ENSE00001182717 003 15 44127214 44127383 + 45 90 35 T G 44127254 790 41 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTGATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG 43835015 43835185 43835055 43835056 43835056 upstr_intron -5 -0.0888888888888889 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTGATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG mutant 71 107 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.987380824399531 0.991660753655422 NA NA NA NA NA 0.989520789027477 NA NA NA NA NA 0.444 0.025 . splice_region_variant&intron_variant LOW WDR76 HGNC 25773 ENST00000381246 2/12 rs574700779 1 NA TTA T,G 1.647e-05 15:43835056 WDR76 HGNC Symbol protein_coding 41456 ENSG00000092470 ENSE00001182717 splice_region_variant 0.588922 0.91971 0.53121 0.295142 0.542046750878447 0.334486 0.00230519074795657 FALSE 3.6583e-05 ENSE00001182717_005 ENSE00001182717 005 15 44127214 44127383 + 45 90 35 G C 44127258 792 45 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATACGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG 43835015 43835185 43835059 43835060 43835060 upstr_intron -1 0 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATACGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG mutant 132 182 0 0 0 610 26 0 0.0143952816112186 0.00719764080560932 NA NA 0.987380824399531 0.991660753655422 NA NA -0.987380824399531 -0.977265472044204 NA 0.989520789027477 NA -0.982323148221867 NA TRUE NA 1 4.236 . splice_acceptor_variant HIGH WDR76 HGNC 25773 ENST00000381246 2/12 1 NA HC AGG G,C 8.236e-06 15:43835060 WDR76 HGNC Symbol protein_coding 41456 ENSG00000092470 ENSE00001182717 splice_acceptor_variant 3.326567 0.98271 0.9094 0.295142 0.98348469305578 0.960398 0.00230519074795657 FALSE 4.06474e-06 ENSE00001182717_014 ENSE00001182717 014 15 44127214 44127383 + 45 90 35 T G 44127296 801 83 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACGGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG 43835015 43835185 43835097 43835098 43835098 exon 38 0.422222222222222 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACGGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG mutant NA NA NA NA NA 291 274 0.993606468957097 0.989329976899052 0.991468222928074 NA NA 0.987380824399531 0.991660753655422 NA NA 0.00622564455756658 -0.00233077675637094 NA 0.989520789027477 NA 0.00194743390059782 NA FALSE NA 1 4.264 . missense_variant MODERATE WDR76 HGNC 25773 ENST00000381246 3/13 1 deleterious(0) possibly_damaging(0.76) NA CTG T,G 8.236e-06 15:43835098 WDR76 HGNC Symbol protein_coding 41456 ENSG00000092470 ENSE00001182717 missense_variant 4.95017 0.97344 0.86659 0.732398 0.99640548583012 0 0.00230519074795657 FALSE 4.06164e-06 ENSE00001182717_018 ENSE00001182717 018 15 44127214 44127383 + 45 90 35 G A 44127316 805 103 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACACAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG 43835015 43835185 43835117 43835118 43835118 exon -33 0.644444444444444 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACACAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG mutant NA NA NA NA NA 187 31 1 1 1 NA NA 0.987380824399531 0.991660753655422 NA NA 0.0126191756004693 0.0083392463445775 NA 0.989520789027477 NA 0.0104792109725234 NA FALSE NA 1 5.265 NA NA NA WDR76 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:43835118 WDR76 HGNC Symbol protein_coding 41456 ENSG00000092470 ENSE00001182717 missense_variant 5.653288 0.97632 0.8992 0.732398 0.999286360929492 0 0.00230519074795657 FALSE 2.03095e-05 ENSE00001182717_022 ENSE00001182717 022 15 44127214 44127383 + 45 90 35 C G 44127332 809 119 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTGTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG 43835015 43835185 43835133 43835134 43835134 exon -17 0.822222222222222 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTGTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG mutant NA NA NA NA NA 135 48 1 1 1 NA NA 0.987380824399531 0.991660753655422 NA NA 0.0126191756004693 0.0083392463445775 NA 0.989520789027477 NA 0.0104792109725234 NA FALSE NA 1 4.156 . missense_variant MODERATE WDR76 HGNC 25773 ENST00000381246 3/13 rs375565743 1 deleterious(0) probably_damaging(0.993) NA G:0 G:0.0001 TCT C,G 8.236e-06 15:43835134 WDR76 HGNC Symbol protein_coding 41456 ENSG00000092470 ENSE00001182717 missense_variant 6.115818 0.97693 0.88389 0.732398 0.9912388628587 0 0.00230519074795657 FALSE 8.12387e-06 ENSE00001182717_024 ENSE00001182717 024 15 44127214 44127383 + 45 90 35 A T 44127347 811 134 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGTGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG 43835015 43835185 43835148 43835149 43835149 exon -2 0.988888888888889 GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGTGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG GTAGATTATATAAAGTAATGGAATCTTTTTGGTGTAATTTTATAGGATTTTTCGGGATTGTCACCCTACGAAAGGAAGAGACTGAAGAACATATCAGAAAACGCAGACTTTTTTGCTTCTCTTCAGTTGTCTGAGGTTTGTGTGGAGTCTATTTAAAAGCAAGATGCAGG mutant 38 82 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.987380824399531 0.991660753655422 NA NA NA NA NA 0.989520789027477 NA NA NA NA NA 1 3.428 . missense_variant&splice_region_variant MODERATE WDR76 HGNC 25773 ENST00000381246 3/13 1 deleterious(0) benign(0.196) NA GAG A,T 8.236e-06 15:43835149 WDR76 HGNC Symbol protein_coding 41456 ENSG00000092470 ENSE00001182717 missense_variant 2.877011 0.96016 0.7925 0.732398 0.986957429982486 0 0.00230519074795657 FALSE 4.06204e-06 ENSE00001183078_000 ENSE00001183078 000 7 94041855 94042024 + 41 99 30 NA NA NA NA NA TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 NA NA NA NA NA NA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA natural 10 14 0.988753462162093 1 0.994376731081046 999 2404 0.996291883043309 0.993396081198282 0.994843982120796 0.988753462162093 1 0.996291883043309 0.993396081198282 0 0 0 0 0.994376731081046 0.994843982120796 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001183078 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001183078_001 ENSE00001183078 001 7 94041855 94042024 + 41 99 30 C T 94041865 1732 11 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAATGTCAACATA 94412542 94412712 94412552 94412553 94412553 upstr_intron -31 -0.731707317073171 TATGTTGACATTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 38 39 1 0.995922957245705 0.997961478622852 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 0.00370811695669093 0.00252687604742285 0.994376731081046 0.994843982120796 NA 0.00311749650205689 NA FALSE NA 0 -0.455 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA ACT C,T 8.239e-06 7:94412553 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 intron_variant -0.643293 0.20332 0.10223 0.062308 0.455261106743026 0.0526402 0.99975494444276 TRUE 4.32664e-06 ENSE00001183078_002 ENSE00001183078 002 7 94041855 94042024 + 41 99 30 A G 94041880 1733 26 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTACTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412567 94412568 94412568 upstr_intron -16 -0.365853658536585 TATGTTGACACTGAGTAAACTTGAAGTAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 303 531 1 0.985312204120199 0.992656102060099 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 0.00370811695669093 -0.00808387707808333 0.994376731081046 0.994843982120796 NA -0.0021878800606962 NA FALSE NA 0.566 2.08 rs73428205 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs73428205 1 G:0.0010 G:0.0038 G:0 NA G:0 G:0 G:0 G:0.003 G:0 AAT A,G 0.0002059 7:94412568 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 intron_variant -0.981308 0.28001 0.56312 0.062308 0.503451568096054 0.171392 0.99975494444276 TRUE 0.000149778 ENSE00001183078_003 ENSE00001183078 003 7 94041855 94042024 + 41 99 30 C T 94041899 1734 45 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAAGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412586 94412587 94412587 exon 4 0.0404040404040404 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCTTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 642 177 0.996338416151322 0.988882053035182 0.992610234593252 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 4.65331080132803e-05 -0.00451402816309954 0.994376731081046 0.994843982120796 NA -0.00223374752754313 NA FALSE NA 0.999 1.99 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CCT C,T 6.589e-05 7:94412587 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 1.641577 0.93724 0.8278 0.706548 0.980368869206948 0 0.99975494444276 TRUE 4.08814e-05 ENSE00001183078_005 ENSE00001183078 005 7 94041855 94042024 + 41 99 30 T C 94041909 1736 55 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGGTGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412596 94412597 94412597 exon 14 0.141414141414141 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCACCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 21 232 1 1 1 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 0.00370811695669093 0.00660391880171807 0.994376731081046 0.994843982120796 NA 0.0051560178792045 NA FALSE NA 0.732 2.639 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA ATC T,C 1.647e-05 7:94412597 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 0.349397 0.33621 0.52709 0.706548 0.926500514613493 0 0.99975494444276 TRUE 1.22297e-05 ENSE00001183078_010 ENSE00001183078 010 7 94041855 94042024 + 41 99 30 G A 94041914 1741 60 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCTGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412601 94412602 94412602 exon 19 0.191919191919192 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACAGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 114 97 0.966069278658926 1 0.983034639329463 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA -0.0302226043843826 0.00660391880171807 0.994376731081046 0.994843982120796 NA -0.0118093427913323 NA FALSE NA 1 9.873 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 COSM365877 1 NA CGG G,A 8.236e-06 7:94412602 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 5.025155 0.9832 0.98242 0.706548 0.990132905306035 0 0.99975494444276 TRUE NA ENSE00001183078_012 ENSE00001183078 012 7 94041855 94042024 + 41 99 30 C T 94041925 1743 71 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGACCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412612 94412613 94412613 exon 30 0.303030303030303 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGTCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 1141 65 0.991457530959851 0.973345945889979 0.982401738424915 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA -0.00483435208345784 -0.0200501353083028 0.994376731081046 0.994843982120796 NA -0.0124422436958803 NA FALSE NA 0.215 -0.253 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GCC C,T 8.236e-06 7:94412613 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 synonymous_variant 0.882836 0.89666 0.29888 0.706548 0.53225016355567 0 0.99975494444276 TRUE NA ENSE00001183078_013 ENSE00001183078 013 7 94041855 94042024 + 41 99 30 A G 94041929 1744 75 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAACTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412616 94412617 94412617 exon 34 0.343434343434343 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAGTTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 405 391 0.852349942351773 0.999595303688219 0.925972623019996 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA -0.143941940691536 0.00619922248993665 0.994376731081046 0.994843982120796 NA -0.0688713591007997 NA FALSE NA 0.273 1.85 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA AAT A,G 4.118e-05 7:94412617 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 1.731351 0.73762 0.39517 0.706548 0.963810610569668 0 0.99975494444276 TRUE 3.66438e-05 ENSE00001183078_014 ENSE00001183078 014 7 94041855 94042024 + 41 99 30 T C 94041930 1745 76 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAGTTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412617 94412618 94412618 exon 35 0.353535353535354 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAACTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 563 905 0.996375143183069 0.997131690926529 0.996753417054799 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 8.32601397598998e-05 0.00373560972824749 0.994376731081046 0.994843982120796 NA 0.0019094349340037 NA FALSE NA 0.263 1.98 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs568201784 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATT T,C 8.236e-06 7:94412618 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 1.615243 0.78907 0.28487 0.706548 0.972386026724265 0 0.99975494444276 TRUE 8.14326e-06 ENSE00001183078_015 ENSE00001183078 015 7 94041855 94042024 + 41 99 30 C T 94041934 1746 80 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGACCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412621 94412622 94412622 exon 39 0.393939393939394 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGTCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 254 30 0.944253203885795 1 0.972126601942898 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA -0.0520386791575137 0.00660391880171807 0.994376731081046 0.994843982120796 NA -0.0227173801778978 NA FALSE NA 0.998 0.514 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94412622 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 synonymous_variant 1.192764 0.91324 0.69012 0.706548 0.588857844947274 0 0.99975494444276 TRUE 8.1422e-06 ENSE00001183078_016 ENSE00001183078 016 7 94041855 94042024 + 41 99 30 C G 94041934 1747 80 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGCCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412621 94412622 94412622 exon 39 0.393939393939394 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGGCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 525 68 0.899868771198149 1 0.949934385599075 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA -0.0964231118451599 0.00660391880171807 0.994376731081046 0.994843982120796 NA -0.0449095965217209 NA FALSE NA 0.998 0.514 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001183078 synonymous_variant 0.616168 0.92033 0.8198 0.706548 0.622851651822995 0 0.99975494444276 TRUE 4.0711e-06 ENSE00001183078_017 ENSE00001183078 017 7 94041855 94042024 + 41 99 30 A C 94041937 1748 83 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCGGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412624 94412625 94412625 exon 42 0.424242424242424 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCCGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 258 112 0.99461432787592 1 0.99730716393796 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA -0.00167755516738877 0.00660391880171807 0.994376731081046 0.994843982120796 NA 0.00246318181716465 NA FALSE NA 0.449 -0.009 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94412625 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 synonymous_variant -0.5456 0.88745 0.63753 0.706548 0.650304937596304 0 0.99975494444276 TRUE 0.339081 ENSE00001183078_018 ENSE00001183078 018 7 94041855 94042024 + 41 99 30 A T 94041937 1749 83 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCAGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412624 94412625 94412625 exon 42 0.424242424242424 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCTGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 432 457 0.999904698814595 1 0.999952349407297 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 0.00361281577128592 0.00660391880171807 0.994376731081046 0.994843982120796 NA 0.00510836728650199 NA FALSE NA 0.449 -0.009 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001183078 synonymous_variant -0.49478 0.88495 0.58021 0.706548 0.615653902693632 0 0.99975494444276 TRUE 2.03829e-05 ENSE00001183078_019 ENSE00001183078 019 7 94041855 94042024 + 41 99 30 C A 94041939 1750 85 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCATCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412626 94412627 94412627 exon 44 0.444444444444444 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGATGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 517 635 0.991776359424403 0.998731412394749 0.995253885909576 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA -0.00451552361890595 0.00533533119646667 0.994376731081046 0.994843982120796 NA 0.000409903788780364 NA FALSE NA 1 3.855 rs414408 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs414408 1 NA A:0.0005 A:0 GCT C,A 1.647e-05 7:94412627 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 3.153653 0.96402 0.91197 0.706548 0.993985505300146 0 0.99975494444276 TRUE 4.07007e-06 ENSE00001183078_020 ENSE00001183078 020 7 94041855 94042024 + 41 99 30 G T 94041955 1751 101 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGATCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412642 94412643 94412643 exon -40 0.606060606060606 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGATCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 569 883 1 0.875696463149624 0.937848231574812 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 0.00370811695669093 -0.117699618048658 0.994376731081046 0.994843982120796 NA -0.0569957505459835 NA FALSE NA 1 1.618 rs148802548 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs148802548 1 NA T:0.0002 T:0 AGC G,T 8.236e-06 7:94412643 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 2.192351 0.92034 0.84681 0.706548 0.993139234213172 0 0.99975494444276 TRUE 1.62795e-05 ENSE00001183078_022 ENSE00001183078 022 7 94041855 94042024 + 41 99 30 A G 94041965 1753 111 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAACGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412652 94412653 94412653 exon -30 0.707070707070707 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACGTTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 432 281 0.995278590393764 0.994246734915019 0.994762662654391 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA -0.00101329264954542 0.000850653716736871 0.994376731081046 0.994843982120796 NA -8.13194664042727e-05 NA FALSE NA 1 7.415 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CAT A,G 2.471e-05 7:94412653 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 3.33733 0.95747 0.95051 0.706548 0.99552863457226 0 0.99975494444276 TRUE 4.88448e-05 ENSE00001183078_023 ENSE00001183078 023 7 94041855 94042024 + 41 99 30 T C 94041966 1754 112 TGAGGGTAAGAAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAGTGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412653 94412654 94412654 exon -29 0.717171717171717 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACACTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 31 12 1 0.840373132854719 0.92018656642736 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 0.00370811695669093 -0.153022948343563 0.994376731081046 0.994843982120796 NA -0.0746574156934359 NA FALSE NA 1 6.283 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA ATT T,C 1.647e-05 7:94412654 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 missense_variant 3.683368 0.95584 0.92952 0.706548 0.993592734505238 0 0.99975494444276 TRUE 2.03525e-05 ENSE00001183078_025 ENSE00001183078 025 7 94041855 94042024 + 41 99 30 C T 94042005 1756 151 TGAGGGTAAGAAAGTTGTGATGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412692 94412693 94412693 downstr_intron 11 1.37931034482759 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCATCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 17 294 1 1 1 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 0.00370811695669093 0.00660391880171807 0.994376731081046 0.994843982120796 NA 0.0051560178792045 NA FALSE NA 0 -0.147 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs538640615 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 ACC C,T 6.59e-05 7:94412693 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 intron_variant 0.348627 0.17599 0.06686 0.062308 0.675117691203325 0.129542 0.99975494444276 TRUE 5.73484e-05 ENSE00001183078_027 ENSE00001183078 027 7 94041855 94042024 + 41 99 30 T C 94042014 1758 160 TGAGGGTAAGGAAGTTGTGGTGATTCTTACAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCCTGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 94412701 94412702 94412702 downstr_intron 20 1.68965517241379 TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTCCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA mutant NA NA NA NA NA 28 98 1 1 1 0.988753462162093 1 0.996291883043309 0.993396081198282 NA NA 0.00370811695669093 0.00660391880171807 0.994376731081046 0.994843982120796 NA 0.0051560178792045 NA FALSE NA 0 -0.082 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs369055166 1 NA C:0.0002 C:0 TTC T,C 1.647e-05 7:94412702 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183078 intron_variant -0.184155 0.19104 0.04709 0.062308 0.399405550258694 0.0685361 0.99975494444276 TRUE 4.10873e-06 ENSE00001183078_BRK ENSE00001183078 BRK 7 94041855 94042024 + 41 99 30 A,G; T,T NA NA NA TGAGGGTAAGAAAGTTGTGGTGATTCTTGGAGTGGGGCCTTTGGGTCCAGGGAATCCAATGTTGCCAGGCTCTCCTCTTGCTCCAGCTGGGCCAATTGGGCCAGGCCTGCCGTCGATGCCAGGGAGGCCAAGAAAGCAGAGTTATTTCAAGTTTACTCAGTGTCAACATA 94412542 94412712 NA NA NA NA NA NA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCTTGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTCCAAGAATCACCACAACTTTCTTACCCTCA TATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAGGGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACTGTAAGAATCACCACAACTTTCTTACCCTCA control 172 292 0 0 0 231 490 0 0 0 0.988753462162093 1 0.996291883043309 0.993396081198282 -0.988753462162093 -1 -0.996291883043309 -0.993396081198282 0.994376731081046 0.994843982120796 -0.994376731081046 -0.994843982120796 0.000467251039749206 TRUE TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001183078 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001183096_000 ENSE00001183096 000 7 94038593 94038762 + 41 99 30 NA NA NA NA NA TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 NA NA NA NA NA NA TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG natural 185 43 0.893463014953404 0.980156292050943 0.936809653502174 5008 3248 0.979891406161358 0.916710841642337 0.948301123901848 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 0 0 0 0 0.936809653502174 0.948301123901848 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001183096 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001183096_001 ENSE00001183096 001 7 94038593 94038762 + 41 99 30 G T 94038603 1593 11 TTATTTGCTGTTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409290 94409291 94409291 upstr_intron -31 -0.731707317073171 TTATTTGCTGTTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 839 259 0.996181710774385 0.990728285043658 0.993454997909021 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0162903046130272 0.0740174434013204 0.936809653502174 0.948301123901848 NA 0.0451538740071738 NA FALSE NA 0 0.364 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GGT G,T 8.236e-06 7:94409291 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 intron_variant -0.069579 0.23063 0.12495 0.062308 0.559164770643706 0.10283 0.99975494444276 TRUE 4.06078e-06 ENSE00001183096_002 ENSE00001183096 002 7 94038593 94038762 + 41 99 30 T A 94038605 1594 13 TTATTTGCTGGTAAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409292 94409293 94409293 upstr_intron -29 -0.682926829268293 TTATTTGCTGGTAAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1275 415 0.999967718461401 1 0.9999838592307 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0200763123000428 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0516827353288529 NA FALSE NA 0 0.007 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs377309076 1 NA A:0 A:0.0001 TTA T,A 8.236e-06 7:94409293 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 intron_variant 0.379622 0.23995 0.15741 0.062308 0.501209087514512 0.10283 0.99975494444276 TRUE 4.06072e-06 ENSE00001183096_003 ENSE00001183096 003 7 94038593 94038762 + 41 99 30 C T 94038611 1595 19 TTATTTGCTGGTTAATTCTTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409298 94409299 94409299 upstr_intron -23 -0.536585365853659 TTATTTGCTGGTTAATTCTTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1173 585 1 1 1 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0201085938386418 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0516988760981524 NA FALSE NA 0 -0.251 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CCT C,T 8.236e-05 7:94409299 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 intron_variant 0.198101 0.22441 0.05678 0.062308 0.460233490927502 0.0455939 0.99975494444276 TRUE 0.000105581 ENSE00001183096_004 ENSE00001183096 004 7 94038593 94038762 + 41 99 30 T A 94038613 1596 21 TTATTTGCTGGTTAATTCCTAGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409300 94409301 94409301 upstr_intron -21 -0.48780487804878 TTATTTGCTGGTTAATTCCTAGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1164 61 0.998541353298097 0.804128352670987 0.901334852984542 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0186499471367392 -0.11258248897135 0.936809653502174 0.948301123901848 NA -0.0469662709173052 NA FALSE NA 0 -0.614 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TTG T,A 8.236e-06 7:94409301 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 intron_variant 0.178127 0.2163 0.06418 0.062308 0.545985444863505 0.0455939 0.99975494444276 TRUE 4.06065e-06 ENSE00001183096_005 ENSE00001183096 005 7 94038593 94038762 + 41 99 30 G T 94038614 1597 22 TTATTTGCTGGTTAATTCCTTTGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409301 94409302 94409302 upstr_intron -20 -0.463414634146341 TTATTTGCTGGTTAATTCCTTTGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1611 444 0.996970132575128 0.996406496024026 0.996688314299577 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0170787264137702 0.0796956543816887 0.936809653502174 0.948301123901848 NA 0.0483871903977294 NA FALSE NA 0 -1.732 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TGG G,T 2.471e-05 7:94409302 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 intron_variant -0.478653 0.18189 0.03992 0.062308 0.343558411757716 0.0455939 0.99975494444276 TRUE 1.21821e-05 ENSE00001183096_006 ENSE00001183096 006 7 94038593 94038762 + 41 99 30 T G 94038618 1598 26 TTATTTGCTGGTTAATTCCTTGGTTGAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409305 94409306 94409306 upstr_intron -16 -0.365853658536585 TTATTTGCTGGTTAATTCCTTGGTTGAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 142 151 0.946291705407015 1 0.973145852703507 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA -0.0335997007543434 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0248447288016598 NA FALSE NA 0.351 2.397 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TTA T,G 8.236e-06 7:94409306 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 intron_variant -0.076303 0.24896 0.10632 0.062308 0.439108891280593 0.0455939 0.99975494444276 TRUE 1.21819e-05 ENSE00001183096_007 ENSE00001183096 007 7 94038593 94038762 + 41 99 30 C T 94038624 1599 32 TTATTTGCTGGTTAATTCCTTGGTTTAATTTTCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409311 94409312 94409312 upstr_intron -10 -0.219512195121951 TTATTTGCTGGTTAATTCCTTGGTTTAATTTTCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 70 345 1 1 1 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0201085938386418 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0516988760981524 NA FALSE NA 0 -0.345 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA TCC C,T 8.236e-06 7:94409312 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 intron_variant 0.462329 0.23698 0.0971 0.062308 0.580482258762643 0.0834357 0.99975494444276 TRUE 4.06068e-06 ENSE00001183096_009 ENSE00001183096 009 7 94038593 94038762 + 41 99 30 T C 94038650 1601 58 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGCTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409337 94409338 94409338 exon 17 0.171717171717172 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGCTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 623 81 1 0.996150502005476 0.998075251002738 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0201085938386418 0.0794396603631392 0.936809653502174 0.948301123901848 NA 0.0497741271008905 NA FALSE NA 1 2.68 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs369720952 1 NA C:0 C:0.0001 GTT T,C 8.236e-06 7:94409338 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 0.839173 0.94199 0.77256 0.706548 0.691898706128721 0 0.99975494444276 TRUE 4.06055e-06 ENSE00001183096_010 ENSE00001183096 010 7 94038593 94038762 + 41 99 30 G A 94038658 1602 66 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACACTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409345 94409346 94409346 exon 25 0.252525252525253 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACACTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1218 118 0.992807614829513 0.997011616519087 0.9949096156743 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0129162086681545 0.0803007748767498 0.936809653502174 0.948301123901848 NA 0.0466084917724521 NA FALSE NA 0.049 0.275 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CGC G,A 3.295e-05 7:94409346 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 2.675303 0.90672 0.24332 0.706548 0.991261868533908 0 0.99975494444276 TRUE 1.2182e-05 ENSE00001183096_011 ENSE00001183096 011 7 94038593 94038762 + 41 99 30 C T 94038664 1603 72 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTTCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409351 94409352 94409352 exon 31 0.313131313131313 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTTCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 173 264 1 1 1 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0201085938386418 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0516988760981524 NA FALSE NA 0.797 2.209 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs370881635&COSM3669773 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 7:94409352 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 0.733064 0.91376 0.85412 0.706548 0.63334004137641 0 0.99975494444276 TRUE 4.06058e-06 ENSE00001183096_012 ENSE00001183096 012 7 94038593 94038762 + 41 99 30 G C 94038671 1604 79 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGCTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409358 94409359 94409359 exon 38 0.383838383838384 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGCTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 240 399 0.99872052786597 1 0.999360263932985 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0188291217046119 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0510591400311374 NA FALSE NA 1 9.873 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GGT G,C 1.647e-05 7:94409359 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 3.713301 0.978 0.983 0.706548 0.994545554885059 0 0.99975494444276 TRUE 1.21902e-05 ENSE00001183096_014 ENSE00001183096 014 7 94038593 94038762 + 41 99 30 G C 94038676 1606 84 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCCCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409363 94409364 94409364 exon 43 0.434343434343434 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCCCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1417 34 0.999650966779059 0.905842359121011 0.952746662950035 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0197595606177007 -0.0108684825213262 0.936809653502174 0.948301123901848 NA 0.00444553904818723 NA FALSE NA 1 5.028 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94409364 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 1.927165 0.95326 0.85242 0.706548 0.917125575881792 0 0.99975494444276 TRUE 1.21822e-05 ENSE00001183096_015 ENSE00001183096 015 7 94038593 94038762 + 41 99 30 G A 94038679 1607 87 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCAGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409366 94409367 94409367 exon 46 0.464646464646465 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCAGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 630 1194 1 0.998844239533368 0.999422119766684 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0201085938386418 0.0821333978910314 0.936809653502174 0.948301123901848 NA 0.0511209958648366 NA FALSE NA 1 9.731 rs72656387 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs72656387&CM070786 1 NA CGG G,A 8.236e-06 7:94409367 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 5.190128 0.97724 0.97916 0.706548 0.994640423485734 0 0.99975494444276 TRUE 8.12137e-06 ENSE00001183096_016 ENSE00001183096 016 7 94038593 94038762 + 41 99 30 G A 94038686 1608 94 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCATGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409373 94409374 94409374 exon -47 0.535353535353535 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCATGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 142 423 0.994663706425791 1 0.997331853212895 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0147723002644328 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0490307293110478 NA FALSE NA 1 7.864 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs542393716 1 A:0.0008 A:0.0008 A:0 NA A:0.003 A:0 A:0 CGT G,A 0.0001071 7:94409374 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 5.637215 0.96593 0.95035 0.706548 0.998614314177132 0 0.99975494444276 TRUE 7.30917e-05 ENSE00001183096_017 ENSE00001183096 017 7 94038593 94038762 + 41 99 30 G A 94038694 1609 102 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAATGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409381 94409382 94409382 exon -39 0.616161616161616 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAATGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1426 714 0.995078532265658 1 0.997539266132829 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0151871261042995 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0492381422309812 NA FALSE NA 0.863 0.243 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94409382 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 3.901618 0.91801 0.65553 0.706548 0.996390077619688 0 0.99975494444276 TRUE 2.43637e-05 ENSE00001183096_018 ENSE00001183096 018 7 94038593 94038762 + 41 99 30 G T 94038694 1610 102 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAATTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409381 94409382 94409382 exon -39 0.616161616161616 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAATTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1749 969 0.998885944281955 0.995760313482743 0.997323128882349 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0189945381205969 0.0790494718404056 0.936809653502174 0.948301123901848 NA 0.0490220049805012 NA FALSE NA 0.863 0.243 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001183096 missense_variant 2.758886 0.92062 0.70442 0.706548 0.988757940941032 0 0.99975494444276 TRUE 5.68486e-05 ENSE00001183096_019 ENSE00001183096 019 7 94038593 94038762 + 41 99 30 G C 94038696 1611 104 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTCGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409383 94409384 94409384 exon -37 0.636363636363636 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTCGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 1550 511 0.999361037862 1 0.999680518931 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0194696317006415 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0513793950291522 NA FALSE NA 0.82 0.123 rs185254570 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs185254570 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TGG G,C 4.118e-05 7:94409384 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 synonymous_variant 0.99252 0.92302 0.66223 0.706548 0.65730371635736 0 0.99975494444276 TRUE 6.90299e-05 ENSE00001183096_020 ENSE00001183096 020 7 94038593 94038762 + 41 99 30 C A 94038708 1612 116 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGACTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409395 94409396 94409396 exon -25 0.757575757575758 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGACTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 482 3600 0.992600752035607 0.906537877255988 0.949569314645798 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0127093458742489 -0.0101729643863492 0.936809653502174 0.948301123901848 NA 0.00126819074394985 NA FALSE NA 0.988 0.102 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA GCC C,A 1.647e-05 7:94409396 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 synonymous_variant 2.344573 0.8548 0.60056 0.706548 0.663840411155992 0 0.99975494444276 TRUE 8.12123e-06 ENSE00001183096_021 ENSE00001183096 021 7 94038593 94038762 + 41 99 30 C T 94038714 1613 122 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCTGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409401 94409402 94409402 exon -19 0.818181818181818 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCTGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 95 859 1 0.980060782009448 0.990030391004724 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0201085938386418 0.0633499403671107 0.936809653502174 0.948301123901848 NA 0.0417292671028763 NA FALSE NA 0.991 0.347 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 COSM3942388 1 NA CCG C,T 9.06e-05 7:94409402 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 synonymous_variant 2.436557 0.89484 0.13651 0.706548 0.823004711290748 0 0.99975494444276 TRUE 9.74548e-05 ENSE00001183096_022 ENSE00001183096 022 7 94038593 94038762 + 41 99 30 G T 94038721 1614 129 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCTTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409408 94409409 94409409 exon -12 0.888888888888889 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCTTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 88 720 0.977038683044521 0.990760499896198 0.98389959147036 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA -0.00285272311683682 0.074049658253861 0.936809653502174 0.948301123901848 NA 0.0355984675685121 NA FALSE NA 1 4.787 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94409409 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 missense_variant 4.376653 0.96611 0.94099 0.706548 0.989376456892407 0 0.99975494444276 TRUE 0.000125882 ENSE00001183096_023 ENSE00001183096 023 7 94038593 94038762 + 41 99 30 G A 94038721 1615 129 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCATTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409408 94409409 94409409 exon -12 0.888888888888889 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCATTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 226 649 0.99963524080843 1 0.999817620404215 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0197438346470717 0.0832891583576629 0.936809653502174 0.948301123901848 NA 0.0515164965023673 NA FALSE NA 1 4.787 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001183096 missense_variant 3.982273 0.96637 0.93154 0.706548 0.998198730747394 0 0.99975494444276 TRUE 6.09107e-05 ENSE00001183096_024 ENSE00001183096 024 7 94038593 94038762 + 41 99 30 A G 94038726 1616 134 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGGCCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409413 94409414 94409414 exon -7 0.939393939393939 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGGCCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 37 238 1 0.978184360019999 0.989092180009999 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0201085938386418 0.0614735183776615 0.936809653502174 0.948301123901848 NA 0.0407910561081516 NA FALSE NA 0.978 0.253 rs148959032 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 rs148959032 1 NA G:0.0002 G:0 GAC A,G 8.236e-06 7:94409414 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 synonymous_variant 1.00189 0.93503 0.79646 0.706548 0.780938313596485 0 0.99975494444276 TRUE 4.06131e-06 ENSE00001183096_025 ENSE00001183096 025 7 94038593 94038762 + 41 99 30 T C 94038732 1617 140 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCCGTAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 94409419 94409420 94409420 exon -1 1 TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCCGTAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG mutant NA NA NA NA NA 166 971 0.994933778077393 0.999674109642879 0.997303943860136 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 NA NA 0.0150423719160344 0.0829632680005415 0.936809653502174 0.948301123901848 NA 0.049002819958288 NA FALSE NA 1 0.809 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 1 NA CTG T,C 8.236e-06 7:94409420 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001183096 splice_region_variant 1.175613 0.91586 0.80887 0.706548 0.811410214666892 0 0.99975494444276 TRUE 8.12176e-06 ENSE00001183096_BRK ENSE00001183096 BRK 7 94038593 94038762 + 41 99 30 A,G; T,T NA NA NA TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTTTGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTCCAAGTAGCCACTGTCTTTAAACTTTATTG 94409280 94409450 NA NA NA NA NA NA TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTTTGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTCCAAGTAGCCACTGTCTTTAAACTTTATTG TTATTTGCTGGTTAATTCCTTGGTTTAATTTCCTCTTTTAGGGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCTGTAAGTAGCCACTGTCTTTAAACTTTATTG control 17 134 0 0 0 NA NA NA NA NA 0.893463014953404 0.980156292050943 0.979891406161358 0.916710841642337 -0.893463014953404 -0.980156292050943 NA NA 0.936809653502174 0.948301123901848 -0.936809653502174 NA NA NA TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001183096 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001183647_000 ENSE00001183647 000 18 12830912 12831081 - 30 99 41 NA NA NA NA NA GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 NA NA NA NA NA NA GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT natural 93 204 0.993794018901252 0.925702657846897 0.959748338374074 10899 9914 0.976220077924175 0.978855232142328 0.977537655033252 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 0 0 0 0 0.959748338374074 0.977537655033252 0 0 0 FALSE FALSE NA NA NA NA NA PTPN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN2 NA NA NA ENSG00000175354 ENSE00003679261 NA NA NA NA NA NA NA 0.995606482600094 TRUE NA ENSE00001183647_001 ENSE00001183647 001 18 12830912 12831081 - 30 99 41 T C 12830927 200 155 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAGTATTTACAACTTAGT 12830912 12831082 12830927 12830928 12830928 downstr_intron 15 1.51724137931034 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAGTATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 1232 515 1 0.990358763372306 0.995179381686153 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0237799220758249 0.011503531229978 0.959748338374074 0.977537655033252 NA 0.0176417266529015 NA FALSE NA 0 -1.881 . intron_variant MODIFIER PTPN2 HGNC 9650 ENST00000592059 4/4 1 NA ATT T,C 2.471e-05 18:12830928 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 intron_variant 1.757558 0.14101 0.01783 0.099367 0.671638682195419 0.288039 0.995606482600094 TRUE 5.71681e-05 ENSE00001183647_002 ENSE00001183647 002 18 12830912 12831081 - 30 99 41 T G 12830928 201 154 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTCATATTTACAACTTAGT 12830912 12831082 12830928 12830929 12830929 downstr_intron 14 1.48275862068966 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTCATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 878 496 0.859553562826071 0.972637731903543 0.916095647364807 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA -0.116666515098104 -0.00621750023878498 0.959748338374074 0.977537655033252 NA -0.0614420076684445 NA FALSE NA 0.004 0.264 . intron_variant MODIFIER PTPN2 HGNC 9650 ENST00000592059 4/4 1 NA TTA T,G 8.237e-06 18:12830929 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 intron_variant 2.072834 0.31659 0.1291 0.099367 0.801703871914695 0.288039 0.995606482600094 TRUE 4.08287e-06 ENSE00001183647_003 ENSE00001183647 003 18 12830912 12831081 - 30 99 41 A G 12830931 202 151 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATACTTAATATTTACAACTTAGT 12830912 12831082 12830931 12830932 12830932 downstr_intron 11 1.37931034482759 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATACTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 345 2215 0.994174508875123 0.998131999610644 0.996153254242883 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0179544309509477 0.0192767674683159 0.959748338374074 0.977537655033252 NA 0.0186155992096318 NA FALSE NA 0.016 0.581 . intron_variant MODIFIER PTPN2 HGNC 9650 ENST00000592059 4/4 1 NA AAT A,G 8.237e-06 18:12830932 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 intron_variant 1.842624 0.30827 0.09972 0.099367 0.744699570466516 0.305763 0.995606482600094 TRUE 4.07983e-06 ENSE00001183647_004 ENSE00001183647 004 18 12830912 12831081 - 30 99 41 C T 12830942 203 140 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCAGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12830942 12830943 12830943 exon -1 1 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCAGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 1822 927 0.999915885199454 0.999658634290231 0.999787259744843 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0236958072752793 0.0208034021479033 0.959748338374074 0.977537655033252 NA 0.0222496047115913 NA FALSE NA 0.986 0.373 . splice_region_variant&synonymous_variant LOW PTPN2 HGNC 9650 ENST00000592059 4/5 1 NA CCG C,T 3.295e-05 18:12830943 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 splice_region_variant 2.381133 0.97236 0.83049 0.6512 0.778795463263596 0 0.995606482600094 TRUE 2.44459e-05 ENSE00001183647_005 ENSE00001183647 005 18 12830912 12831081 - 30 99 41 G A 12830943 204 139 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATTGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12830943 12830944 12830944 exon -2 0.98989898989899 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATTGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant 12 17 1 1 1 1219 867 0.998324175299799 0.99389100928567 0.996107592292734 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 0.00620598109874804 0.0742973421531034 0.0221040973756236 0.0150357771433424 0.959748338374074 0.977537655033252 0.0402516616259257 0.018569937259483 0.0216817243664427 FALSE FALSE 1 7.514 . missense_variant&splice_region_variant MODERATE PTPN2 HGNC 9650 ENST00000592059 4/5 1 tolerated(0.13) benign(0.008) NA CGA G,A 1.647e-05 18:12830944 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 missense_variant 4.398837 0.99424 0.98528 0.6512 0.997610297264187 0 0.995606482600094 TRUE 1.22209e-05 ENSE00001183647_006 ENSE00001183647 006 18 12830912 12831081 - 30 99 41 A G 12830958 205 124 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCACTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12830958 12830959 12830959 exon -17 0.838383838383838 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCACTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 1122 1570 1 0.997949664610422 0.998974832305211 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0237799220758249 0.0190944324680937 0.959748338374074 0.977537655033252 NA 0.0214371772719593 NA FALSE NA 1 4.089 . missense_variant MODERATE PTPN2 HGNC 9650 ENST00000592059 4/5 1 deleterious(0.05) benign(0.007) NA AAT A,G 8.236e-06 18:12830959 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 missense_variant 2.882192 0.97747 0.92146 0.706548 0.891005608897241 0 0.995606482600094 TRUE 4.06984e-06 ENSE00001183647_007 ENSE00001183647 007 18 12830912 12831081 - 30 99 41 C T 12830961 206 121 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCACATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12830961 12830962 12830962 exon -20 0.808080808080808 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCACATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 1432 262 0.998110049572862 0.995489701683503 0.996799875628182 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0218899716486868 0.0166344695411749 0.959748338374074 0.977537655033252 NA 0.0192622205949308 NA FALSE NA 1 7.388 rs145657672 missense_variant MODERATE PTPN2 HGNC 9650 ENST00000592059 4/5 rs145657672&COSM986672 1 deleterious(0.03) benign(0.143) NA T:0 T:0.0001 GCG C,T 2.471e-05 18:12830962 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 missense_variant 5.970943 0.9941 0.98328 0.706548 0.997972830486498 0 0.995606482600094 TRUE 1.62813e-05 ENSE00001183647_008 ENSE00001183647 008 18 12830912 12831081 - 30 99 41 A C 12830970 207 112 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCAGGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12830970 12830971 12830971 exon -29 0.717171717171717 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCAGGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 1039 1723 0.949756629525191 0.999242345359606 0.974499487442398 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA -0.0264634483989842 0.0203871132172777 0.959748338374074 0.977537655033252 NA -0.00303816759085324 NA FALSE NA 1 8.841 . missense_variant MODERATE PTPN2 HGNC 9650 ENST00000592059 4/5 1 deleterious(0) probably_damaging(0.996) NA CAT A,C 8.236e-06 18:12830971 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 missense_variant 6.164877 0.99249 0.98997 0.706548 0.987105537336844 0 0.995606482600094 TRUE NA ENSE00001183647_009 ENSE00001183647 009 18 12830912 12831081 - 30 99 41 A C 12830975 208 107 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTGGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12830975 12830976 12830976 exon -34 0.666666666666667 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTGGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 398 2455 0.998647984687122 0.999658231242298 0.99915310796471 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0224279067629471 0.0208029990999699 0.959748338374074 0.977537655033252 NA 0.0216154529314585 NA FALSE NA 1 3.408 . synonymous_variant LOW PTPN2 HGNC 9650 ENST00000592059 4/5 1 NA CAA A,C 8.236e-06 18:12830976 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 synonymous_variant -0.092632 0.98336 0.93947 0.706548 0.834501778534535 0 0.995606482600094 TRUE 4.06838e-06 ENSE00001183647_010 ENSE00001183647 010 18 12830912 12831081 - 30 99 41 G C 12831011 209 71 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTGTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12831011 12831012 12831012 exon 30 0.303030303030303 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTGTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 1541 1100 0.999652308894762 0.996177700500586 0.997915004697674 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0234322309705866 0.0173224683582578 0.959748338374074 0.977537655033252 NA 0.0203773496644222 NA FALSE NA 1 4.349 . 5_prime_UTR_variant MODIFIER PTPN2 HGNC 9650 ENST00000592059 4/5 1 NA AGA G,C 8.236e-06 18:12831012 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 missense_variant 6.324518 0.9821 0.95669 0.706548 0.99871239471377 0 0.995606482600094 TRUE 4.06914e-06 ENSE00001183647_011 ENSE00001183647 011 18 12830912 12831081 - 30 99 41 A T 12831022 210 60 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACAAGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12831022 12831023 12831023 exon 19 0.191919191919192 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACAAGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 787 1219 0.996980363875426 1 0.998490181937713 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0207602859512505 0.0211447678576722 0.959748338374074 0.977537655033252 NA 0.0209525269044613 NA FALSE NA 0.998 3.886 . 5_prime_UTR_variant MODIFIER PTPN2 HGNC 9650 ENST00000592059 4/5 1 NA CAT A,T 8.237e-06 18:12831023 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 missense_variant 3.547312 0.98351 0.91037 0.706548 0.953460974270857 0 0.995606482600094 TRUE 4.06974e-06 ENSE00001183647_012 ENSE00001183647 012 18 12830912 12831081 - 30 99 41 T G 12831023 211 59 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACCTGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12831023 12831024 12831024 exon 18 0.181818181818182 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACCTGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 1096 774 0.95980200962524 0.991110464244563 0.975456236934901 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA -0.0164180682989354 0.0122552321022347 0.959748338374074 0.977537655033252 NA -0.00208141809835038 NA FALSE NA 0.081 -0.497 NA NA NA PTPN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:12831024 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 synonymous_variant 1.158043 0.89002 0.22595 0.706548 0.7314115112134 0 0.995606482600094 TRUE 4.07007e-06 ENSE00001183647_017 ENSE00001183647 017 18 12830912 12831081 - 30 99 41 G A 12831048 216 34 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTTTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12831048 12831049 12831049 upstr_intron -8 -0.170731707317073 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTTTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 571 679 1 0.984550850642981 0.99227542532149 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0237799220758249 0.00569561850065303 0.959748338374074 0.977537655033252 NA 0.014737770288239 NA FALSE NA 0 0.374 . splice_region_variant&intron_variant LOW PTPN2 HGNC 9650 ENST00000592059 3/4 1 NA AGA G,A 8.236e-06 18:12831049 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 splice_region_variant 0.19596 0.23214 0.00957 0.062308 0.475596066842512 0.103514 0.995606482600094 TRUE 1.22575e-05 ENSE00001183647_018 ENSE00001183647 018 18 12830912 12831081 - 30 99 41 A G 12831051 217 31 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCCCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12831051 12831052 12831052 upstr_intron -11 -0.24390243902439 GTCTGCTTCCCTCATCTGCTCTCTCTCCTCCCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 653 1078 0.990396817509234 0.99964618586629 0.995021501687762 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0141767395850591 0.0207909537239622 0.959748338374074 0.977537655033252 NA 0.0174838466545106 NA FALSE NA 0.007 2.808 . intron_variant MODIFIER PTPN2 HGNC 9650 ENST00000592059 3/4 1 NA GAG A,G 8.236e-06 18:12831052 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 intron_variant -0.072593 0.3584 0.45335 0.062308 0.50145427593964 0.0923334 0.995606482600094 TRUE 4.0858e-06 ENSE00001183647_019 ENSE00001183647 019 18 12830912 12831081 - 30 99 41 A G 12831058 218 24 GTCTGCTTCCCTCATCTGCTCTCCCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12831058 12831059 12831059 upstr_intron -18 -0.414634146341463 GTCTGCTTCCCTCATCTGCTCTCCCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant 20 14 1 0.999612118464542 0.999806059232271 1191 686 0.999376368884362 0.943910769918058 0.97164356940121 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 0.00620598109874804 0.073909460617645 0.0231562909601866 -0.0349444622242701 0.959748338374074 0.977537655033252 0.0400577208581965 -0.00589408563204175 0.0459518064902383 FALSE FALSE 0.003 1.707 . intron_variant MODIFIER PTPN2 HGNC 9650 ENST00000592059 3/4 1 NA GAG A,G 8.236e-06 18:12831059 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 intron_variant -0.385224 0.23091 0.10506 0.062308 0.516312742204093 0.0923334 0.995606482600094 TRUE 4.09088e-06 ENSE00001183647_020 ENSE00001183647 020 18 12830912 12831081 - 30 99 41 G C 12831066 219 16 GTCTGCTTCCCTCATGTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 12831066 12831067 12831067 upstr_intron -26 -0.609756097560976 GTCTGCTTCCCTCATGTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT mutant NA NA NA NA NA 2983 6377 0.997073426904505 0.98558875258968 0.991331089747093 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 NA NA 0.0208533489803301 0.00673352044735243 0.959748338374074 0.977537655033252 NA 0.0137934347138413 NA FALSE NA 0 -0.08 . intron_variant MODIFIER PTPN2 HGNC 9650 ENST00000592059 3/4 1 NA AGA G,C 8.237e-06 18:12831067 PTPN2 HGNC Symbol protein_coding 144165 ENSG00000175354 ENSE00003679261 intron_variant -0.160991 0.26461 0.10881 0.062308 0.519928240911917 0.0923334 0.995606482600094 TRUE 4.12681e-06 ENSE00001183647_BRK ENSE00001183647 BRK 18 12830912 12831081 - 30 99 41 A,G; T,T NA NA NA GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACTTGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGCCGAGTAATATTTAATATTTACAACTTAGT 12830912 12831082 NA NA NA NA NA NA GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACTTGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGCCGAGTAATATTTAATATTTACAACTTAGT GTCTGCTTCCCTCATCTGCTCTCTCTCCTCTCTCTTCACAGGGTCCACTTCCTAACACATGCTGCCATTTCTGGCTTATGGTTTGGCAGCAGAAGACCAAAGCAGTTGTCATGCTGAACCGCATTGTGGAGAAAGAATCGGTGAGTAATATTTAATATTTACAACTTAGT control 80 62 0 0 0 21 674 0.188616590616787 0 0.0943082953083934 0.993794018901252 0.925702657846897 0.976220077924175 0.978855232142328 -0.993794018901252 -0.925702657846897 -0.787603487307388 -0.978855232142328 0.959748338374074 0.977537655033252 -0.959748338374074 -0.883229359724858 0.0765189786492162 TRUE TRUE NA NA NA NA NA PTPN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN2 NA NA NA ENSG00000175354 ENSE00003679261 NA NA NA NA NA NA NA 0.995606482600094 TRUE NA ENSE00001184463_000 ENSE00001184463 000 11 73574172 73574341 + 45 90 35 NA NA NA NA NA TTTCAGCTCCTCCCACCTCTTAGAGCACCTTCTTTCATTTTGCAGATCAGCGGTTTGAGTGCTACGTTTGCAGAAATTTTCTTGGAAATAATCCAAAGCAGTCTTCCTGAAGGAGTCAGACTGTCAGTGAAGGAGGTAGGTGCTGGTTTGAGAAGAGGCCCCTGCTGGCC 73863126 73863296 NA NA NA NA NA NA TTTCAGCTCCTCCCACCTCTTAGAGCACCTTCTTTCATTTTGCAGATCAGCGGTTTGAGTGCTACGTTTGCAGAAATTTTCTTGGAAATAATCCAAAGCAGTCTTCCTGAAGGAGTCAGACTGTCAGTGAAGGAGGTAGGTGCTGGTTTGAGAAGAGGCCCCTGCTGGCC TTTCAGCTCCTCCCACCTCTTAGAGCACCTTCTTTCATTTTGCAGATCAGCGGTTTGAGTGCTACGTTTGCAGAAATTTTCTTGGAAATAATCCAAAGCAGTCTTCCTGAAGGAGTCAGACTGTCAGTGAAGGAGGTAGGTGCTGGTTTGAGAAGAGGCCCCTGCTGGCC natural 44 29 0.961943983177398 0.940463428914968 0.951203706046183 1830 950 0.997719988904438 0.991711106499228 0.994715547701833 0.961943983177398 0.940463428914968 0.997719988904438 0.991711106499228 0 0 0 0 0.951203706046183 0.994715547701833 0 0 0 FALSE FALSE NA NA NA NA NA MRPL48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MRPL48 NA NA NA ENSG00000175581 ENSE00003600762 NA NA NA NA NA NA NA 0.138891984829277 FALSE NA ENSE00001184463_001 ENSE00001184463 001 11 73574172 73574341 + 45 90 35 C T 73574190 2135 19 TTTCAGCTCCTCCCACCTTTTAGAGCACCTTCTTTCATTTTGCAGATCAGCGGTTTGAGTGCTACGTTTGCAGAAATTTTCTTGGAAATAATCCAAAGCAGTCTTCCTGAAGGAGTCAGACTGTCAGTGAAGGAGGTAGGTGCTGGTTTGAGAAGAGGCCCCTGCTGGCC 73863126 73863296 73863144 73863145 73863145 upstr_intron -27 -0.577777777777778 TTTCAGCTCCTCCCACCTTTTAGAGCACCTTCTTTCATTTTGCAGATCAGCGGTTTGAGTGCTACGTTTGCAGAAATTTTCTTGGAAATAATCCAAAGCAGTCTTCCTGAAGGAGTCAGACTGTCAGTGAAGGAGGTAGGTGCTGGTTTGAGAAGAGGCCCCTGCTGGCC TTTCAGCTCCTCCCACCTCTTAGAGCACCTTCTTTCATTTTGCAGATCAGCGGTTTGAGTGCTACGTTTGCAGAAATTTTCTTGGAAATAATCCAAAGCAGTCTTCCTGAAGGAGTCAGACTGTCAGTGAAGGAGGTAGGTGCTGGTTTGAGAAGAGGCCCCTGCTGGCC mutant NA NA NA NA NA 196 221 1 0.973016869250204 0.986508434625102 0.961943983177398 0.940463428914968 0.997719988904438 0.991711106499228 NA NA 0.00228001109556208 -0.0186942372490247 0.951203706046183 0.994715547701833 NA -0.00820711307673133 NA FALSE NA 0.001 0.08 . intron_variant&NMD_transcript_variant MODIFIER MRPL48 HGNC 16653 ENST00000544819 5/6 1 NA TCT C,T 4.211e-05 11:73863145 MRPL48 HGNC Symbol protein_coding 77817 ENSG00000175581 ENSE00003600762 intron_variant 0.07104 0.17678 0.04194 0.099367 0.655757643164716 0.0950094 0.138891984829277 FALSE 1.78029e-05 ENSE00001184964_000 ENSE00001184964 000 19 17750210 17750379 - 35 90 45 NA NA NA NA NA CCTTGGAGAGCAAAGGCAACTGGATCCTTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCCGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAGAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 NA NA NA NA NA NA CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG natural 60 73 0.994747179267758 0.955726800079451 0.975236989673605 804 276 0.958997623043717 0.985385606199122 0.97219161462142 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 0 0 0 0 0.975236989673605 0.97219161462142 0 0 0 FALSE FALSE NA NA NA NA NA UNC13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13A NA NA NA ENSG00000130477 ENSE00001184964 NA NA NA NA NA NA NA 0.999986711013614 TRUE NA ENSE00001184964_001 ENSE00001184964 001 19 17750210 17750379 - 35 90 45 C T 17750236 1734 144 CCTTGGAGAGCAAAGGCAACTGGATCTTTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCCGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAGAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 17639426 17639427 17639427 downstr_intron 9 1.26470588235294 CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAAGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 277 18 1 0.991110464244563 0.995555232122281 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA 0.0410023769562827 0.00572485804544021 0.975236989673605 0.97219161462142 NA 0.0233636175008615 NA FALSE NA 0 -0.505 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 24/42 1 NA CCT C,T 8.271e-06 19:17639427 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 intron_variant 0.925209 0.69029 0.03314 0.080785 0.796429683516752 0.696613 0.999986711013614 TRUE 1.24688e-05 ENSE00001184964_002 ENSE00001184964 002 19 17750210 17750379 - 35 90 45 T C 17750237 1735 143 CCTTGGAGAGCAAAGGCAACTGGATCCCTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCCGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAGAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 17639427 17639428 17639428 downstr_intron 8 1.23529411764706 CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAGGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 22 202 1 1 1 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA 0.0410023769562827 0.0146143938008777 0.975236989673605 0.97219161462142 NA 0.0278083853785802 NA FALSE NA 0 -0.148 . splice_region_variant&intron_variant LOW UNC13A HGNC 23150 ENST00000252773 24/42 1 NA CTT T,C 4.136e-05 19:17639428 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 splice_region_variant 0.232484 0.33623 0.00349 0.080785 0.756576147927482 0.122147 0.999986711013614 TRUE 1.65781e-05 ENSE00001184964_003 ENSE00001184964 003 19 17750210 17750379 - 35 90 45 T G 17750262 1736 118 CCTTGGAGAGCAAAGGCAACTGGATCCTTTCCTACCTTCATCCGAAAGAAGGGGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCCGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAGAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 17639452 17639453 17639453 exon -18 0.811111111111111 CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCCCCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 865 150 0.999092528954891 0.981240037631428 0.990166283293159 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA 0.0400949059111736 -0.00414556856769421 0.975236989673605 0.97219161462142 NA 0.0179746686717397 NA FALSE NA 1 7.804 . missense_variant MODERATE UNC13A HGNC 23150 ENST00000252773 24/43 1 probably_damaging(0.982) NA GTG T,G 8.27e-06 19:17639453 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 missense_variant 6.240564 0.98549 0.98165 0.706548 0.996870837290063 0 0.999986711013614 TRUE 4.07764e-06 ENSE00001184964_005 ENSE00001184964 005 19 17750210 17750379 - 35 90 45 C T 17750299 1738 81 CCTTGGAGAGCAAAGGCAACTGGATCCTTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCTTGGAGTCTCTCCGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAGAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 17639489 17639490 17639490 exon 36 0.4 CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAAGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 71 276 1 0.865638589206415 0.932819294603207 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA 0.0410023769562827 -0.119747016992707 0.975236989673605 0.97219161462142 NA -0.0393723200182123 NA FALSE NA 1 2.57 . synonymous_variant LOW UNC13A HGNC 23150 ENST00000252773 24/43 1 NA CCT C,T 1.654e-05 19:17639490 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 synonymous_variant 1.762632 0.9718 0.88633 0.719381 0.735988232702018 0 0.999986711013614 TRUE 1.21999e-05 ENSE00001184964_006 ENSE00001184964 006 19 17750210 17750379 - 35 90 45 C T 17750311 1739 69 CCTTGGAGAGCAAAGGCAACTGGATCCTTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCTGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAGAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 17639501 17639502 17639502 exon 24 0.266666666666667 CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCAGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 58 24 0.972469935737773 0.98988159970105 0.981175767719412 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA 0.0134723126940558 0.00449599350192753 0.975236989673605 0.97219161462142 NA 0.00898415309799167 NA FALSE NA 0 -5.745 . synonymous_variant LOW UNC13A HGNC 23150 ENST00000252773 24/43 1 NA CCG C,T 1.654e-05 19:17639502 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 synonymous_variant 2.482697 0.54673 0.01257 0.719381 0.617410211169252 0 0.999986711013614 TRUE 1.62745e-05 ENSE00001184964_007 ENSE00001184964 007 19 17750210 17750379 - 35 90 45 G A 17750312 1740 68 CCTTGGAGAGCAAAGGCAACTGGATCCTTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCCAGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAGAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 17639502 17639503 17639503 exon 23 0.255555555555556 CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCTGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 1307 994 0.999968508935079 0.999385053690493 0.999676781312786 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA 0.0409708858913621 0.0139994474913706 0.975236989673605 0.97219161462142 NA 0.0274851666913664 NA FALSE NA 1 9.623 . missense_variant MODERATE UNC13A HGNC 23150 ENST00000252773 24/43 1 probably_damaging(0.965) NA CGG G,A 2.481e-05 19:17639503 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 missense_variant 5.864883 0.99032 0.99672 0.719381 0.983415859914406 0 0.999986711013614 TRUE 3.66136e-05 ENSE00001184964_009 ENSE00001184964 009 19 17750210 17750379 - 35 90 45 A G 17750350 1742 30 CCTTGGAGAGCAAAGGCAACTGGATCCTTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCCGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAGGAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 17639540 17639541 17639541 upstr_intron -16 -0.333333333333333 CCACGCCTTCTTCCATAACCCCACATCTCCTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 34 1134 1 1 1 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA 0.0410023769562827 0.0146143938008777 0.975236989673605 0.97219161462142 NA 0.0278083853785802 NA FALSE NA 0 -0.064 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 23/42 rs547056844 1 NA AAG A,G 8.272e-06 19:17639541 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 intron_variant -0.155983 0.14306 0.01522 0.093477 0.602218118161304 0.13075 0.999986711013614 TRUE 1.64605e-05 ENSE00001184964_010 ENSE00001184964 010 19 17750210 17750379 - 35 90 45 G A 17750351 1743 29 CCTTGGAGAGCAAAGGCAACTGGATCCTTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCCGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAAAGATGTGGGGTTATGGAAGAAGGCGTGG 17639400 17639570 17639541 17639542 17639542 upstr_intron -17 -0.355555555555556 CCACGCCTTCTTCCATAACCCCACATCTTTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 623 752 0.996187446361634 0.998776095762469 0.997481771062051 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA 0.0371898233179166 0.0133904895633464 0.975236989673605 0.97219161462142 NA 0.0252901564406315 NA FALSE NA 0 0.433 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 23/42 1 NA AGA G,A 2.482e-05 19:17639542 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 intron_variant -0.134287 0.20262 0.01228 0.093477 0.460329638365155 0.13075 0.999986711013614 TRUE 1.23774e-05 ENSE00001184964_012 ENSE00001184964 012 19 17750210 17750379 - 35 90 45 A G 17750364 1745 16 CCTTGGAGAGCAAAGGCAACTGGATCCTTTCCTACCTTCATCCGAAAGAAGGTGATGCTGGTGAGAAGGTCCACAGTGGATTTGAGGTCCTGGAGTCTCTCCGGGCTGCTGGCTGGGAAGTTATTCTGTTGGGAGCAGGAAGAGATGTGGGGTTGTGGAAGAAGGCGTGG 17639400 17639570 17639554 17639555 17639555 upstr_intron -30 -0.644444444444444 CCACGCCTTCTTCCACAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG CCACGCCTTCTTCCATAACCCCACATCTCTTCCTGCTCCCAACAGAATAACTTCCCAGCCAGCAGCCCGGAGAGACTCCAGGACCTCAAATCCACTGTGGACCTTCTCACCAGCATCACCTTCTTTCGGATGAAGGTAGGAAAGGATCCAGTTGCCTTTGCTCTCCAAGG mutant NA NA NA NA NA 58 95 0.945865646988412 1 0.972932823494206 0.994747179267758 0.955726800079451 0.958997623043717 0.985385606199122 NA NA -0.0131319760553048 0.0146143938008777 0.975236989673605 0.97219161462142 NA 0.000741208872786447 NA FALSE NA 0 0.811 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 23/42 1 NA TAT A,G 2.482e-05 19:17639555 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001184964 intron_variant 0.332561 0.14006 0.03351 0.093477 0.735697009213059 0.13075 0.999986711013614 TRUE 8.44167e-06 ENSE00001185332_000 ENSE00001185332 000 9 97767771 97767940 + 53 75 42 NA NA NA NA NA TTTACCAAGACCTGCACCGAGTACCGTCTCGGGAACCCCTACCTTTTCAAACACCTCTTCCTTCTCCCTGCGCTTCCGTTTTCGGGGTCTCCGGTTCACTCCAATCCATTTCGTGACCTGAGGTTCAAAAACCACAGCATTTCAAAGAAGGCGACAGGGTCCTGACGGCC 95005488 95005658 NA NA NA NA NA NA GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA natural NA NA NA NA NA 136 285 0.980306921388934 1 0.990153460694467 NA NA 0.980306921388934 1 NA NA 0 0 NA 0.990153460694467 NA 0 NA FALSE NA NA NA NA NA NA C9orf3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C9orf3 NA NA NA ENSG00000148120 ENSE00003587084 NA NA NA NA NA NA NA 5.19688494998789e-12 FALSE NA ENSE00001185332_001 ENSE00001185332 001 9 97767771 97767940 + 53 75 42 A G 97767781 968 11 TTTACCAAGACCTGCACCGAGTACCGTCTCGGGAACCCCTACCTTTTCAAACACCTCTTCCTTCTCCCTGCGCTTCCGTTTTCGGGGTCTCCGGTTCACTCCAATCCATTTCGTGACCTGAGGTTCAAAAACCACAGCATTTCAAAGAAGGCGACAGGGCCCTGACGGCC 95005488 95005658 95005498 95005499 95005499 upstr_intron -43 -0.792452830188679 GGCCGTCAGGGCCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA mutant NA NA NA NA NA 378 75 0.982091906526365 1 0.991045953263183 NA NA 0.980306921388934 1 NA NA 0.00178498513743119 0 NA 0.990153460694467 NA 0.000892492568715597 NA FALSE NA 0.001 0.198 . intron_variant MODIFIER C9orf3 HGNC 1361 ENST00000424143 9/11 1 NA GAC A,G 8.237e-06 9:95005499 C9orf3 HGNC Symbol protein_coding 360517 ENSG00000148120 ENSE00003587084 intron_variant 0.623283 0.21481 0.10885 0.11394 0.659644264006735 0.0798057 5.19688494998789e-12 FALSE 4.08891e-06 ENSE00001185332_002 ENSE00001185332 002 9 97767771 97767940 + 53 75 42 C T 97767784 969 14 TTTACCAAGACCTGCACCGAGTACCGTCTCGGGAACCCCTACCTTTTCAAACACCTCTTCCTTCTCCCTGCGCTTCCGTTTTCGGGGTCTCCGGTTCACTCCAATCCATTTCGTGACCTGAGGTTCAAAAACCACAGCATTTCAAAGAAGGCGACAAGGTCCTGACGGCC 95005488 95005658 95005501 95005502 95005502 upstr_intron -40 -0.735849056603774 GGCCGTCAGGACCTTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA mutant NA NA NA NA NA 182 12 1 1 1 NA NA 0.980306921388934 1 NA NA 0.0196930786110662 0 NA 0.990153460694467 NA 0.00984653930553309 NA FALSE NA 0 0.551 . intron_variant MODIFIER C9orf3 HGNC 1361 ENST00000424143 9/11 rs368266094 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0003 CCT C,T 0.001269 9:95005502 C9orf3 HGNC Symbol protein_coding 360517 ENSG00000148120 ENSE00003587084 intron_variant 0.794944 0.19748 0.08788 0.11394 0.88064546456779 0.0798057 5.19688494998789e-12 FALSE 0.00101339 ENSE00001185332_018 ENSE00001185332 018 9 97767771 97767940 + 53 75 42 G A 97767875 985 105 TTTACCAAGACCTGCACCGAGTACCGTCTCGGGAACCCCTACCTTTTCAAACACCTCTTCCTTCTTCCTGCGCTTCCGTTTTCGGGGTCTCCGGTTCACTCCAATCCATTTCGTGACCTGAGGTTCAAAAACCACAGCATTTCAAAGAAGGCGACAGGGTCCTGACGGCC 95005488 95005658 95005592 95005593 95005593 exon -24 0.693333333333333 GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGAAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA mutant NA NA NA NA NA 56 17 1 1 1 NA NA 0.980306921388934 1 NA NA 0.0196930786110662 0 NA 0.990153460694467 NA 0.00984653930553309 NA FALSE NA 0.693 1.552 . missense_variant MODERATE C9orf3 HGNC 1361 ENST00000424143 10/12 1 tolerated(0.53) benign(0.02) NA GGA G,A 8.236e-06 9:95005593 C9orf3 HGNC Symbol protein_coding 360517 ENSG00000148120 ENSE00003587084 missense_variant 0.139409 0.20385 0.24867 0.652421 0.909253802698333 0 5.19688494998789e-12 FALSE 4.06445e-06 ENSE00001185332_019 ENSE00001185332 019 9 97767771 97767940 + 53 75 42 A G 97767878 986 108 TTTACCAAGACCTGCACCGAGTACCGTCTCGGGAACCCCTACCTTTTCAAACACCTCTTCCTCCTCCCTGCGCTTCCGTTTTCGGGGTCTCCGGTTCACTCCAATCCATTTCGTGACCTGAGGTTCAAAAACCACAGCATTTCAAAGAAGGCGACAGGGTCCTGACGGCC 95005488 95005658 95005595 95005596 95005596 exon -21 0.733333333333333 GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGGAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA mutant NA NA NA NA NA 165 60 1 1 1 NA NA 0.980306921388934 1 NA NA 0.0196930786110662 0 NA 0.990153460694467 NA 0.00984653930553309 NA FALSE NA 0.034 0.275 . missense_variant MODERATE C9orf3 HGNC 1361 ENST00000424143 10/12 1 tolerated(0.96) benign(0.001) NA GAA A,G 8.236e-06 9:95005596 C9orf3 HGNC Symbol protein_coding 360517 ENSG00000148120 ENSE00003587084 missense_variant -0.97644 0.15906 0.02222 0.652421 0.690839889466813 0 5.19688494998789e-12 FALSE 4.06451e-06 ENSE00001185332_BRK ENSE00001185332 BRK 9 97767771 97767940 + 53 75 42 A,G; T,T NA NA NA TTTACCAAGACCTGCACCGAGTACCGTCTCGGGAACCCCTGGCTTTTCAAACACCTCTTCCTTCTCCCTGCGCTTCCGTTTTCGGGGTCTCCGGTTCACTCCAATCCATTTCGTGACAAGAGGTTCAAAAACCACAGCATTTCAAAGAAGGCGACAGGGTCCTGACGGCC 95005488 95005658 NA NA NA NA NA NA GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCTTGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGCCAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA GGCCGTCAGGACCCTGTCGCCTTCTTTGAAATGCTGTGGTTTTTGAACCTCAGGTCACGAAATGGATTGGAGTGAACCGGAGACCCCGAAAACGGAAGCGCAGGGAGAAGGAAGAGGTGTTTGAAAAGGTAGGGGTTCCCGAGACGGTACTCGGTGCAGGTCTTGGTAAA control NA NA NA NA NA 57 155 0 0 0 NA NA 0.980306921388934 1 NA NA -0.980306921388934 -1 NA 0.990153460694467 NA -0.990153460694467 NA TRUE NA NA NA NA NA NA C9orf3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C9orf3 NA NA NA ENSG00000148120 ENSE00003587084 NA NA NA NA NA NA NA 5.19688494998789e-12 FALSE NA ENSE00001187965_000 ENSE00001187965 000 11 66461208 66461377 - 35 90 45 NA NA NA NA NA GGGAACTTCTCTTTTGCCTTCAGCCTCTGCCTCACCTGGTTTTTCTTCATGAGAAGCTGGACGCTGGGCAGGTCCTTGCCATGCTCCATGGAGCTGGCCATGGGCAGCCGCTCTGTCACCCACAACTGGAAGAGGAAGAGGGGGTCAGTGGAGGCCCAGAGGGCAAGGCA 66693736 66693906 NA NA NA NA NA NA TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC natural NA NA NA NA NA 342 1133 0.954162098566967 0.988946876161033 0.971554487364 NA NA 0.954162098566967 0.988946876161033 NA NA 0 0 NA 0.971554487364 NA 0 NA FALSE NA NA NA NA NA NA SPTBN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTBN2 NA NA NA ENSG00000173898 ENSE00001187965 NA NA NA NA NA NA NA 0.999977956591075 TRUE NA ENSE00001187965_002 ENSE00001187965 002 11 66461208 66461377 - 35 90 45 A G 66461229 1849 149 GGGAACTTCTCTTTTGCCTTCGGCCTCTGCCTCACCTGGTTTTTCTTCATGAGAAGCTGGACGCTGGGCAGGTCCTTGCCATGCTCCATGGAGCTGGCCATGGGCAGCCGCTCTGTCACCCACAACTGGAAGAGGAAGAGGGGGTCAGTGGAGGCCCAGAGGGCAAGGCA 66693736 66693906 66693757 66693758 66693758 downstr_intron 14 1.41176470588235 TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCCGAAGGCAAAAGAGAAGTTCCC TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC mutant NA NA NA NA NA 943 165 0.840987394915473 0.995737286836001 0.918362340875737 NA NA 0.954162098566967 0.988946876161033 NA NA -0.113174703651493 0.00679041067496833 NA 0.971554487364 NA -0.0531921464882625 NA FALSE NA 0 -0.139 . upstream_gene_variant MODIFIER SPTBN2 HGNC 11276 ENST00000532650 1 NA CAG A,G 8.24e-06 11:66693758 SPTBN2 HGNC Symbol protein_coding 43978 ENSG00000173898 ENSE00001187965 intron_variant 1.796696 0.20637 0.07739 0.069865 0.793114730389828 0.308484 0.999977956591075 TRUE NA ENSE00001187965_006 ENSE00001187965 006 11 66461208 66461377 - 35 90 45 C A 66461269 1853 109 GGGAACTTCTCTTTTGCCTTCAGCCTCTGCCTCACCTGGTTTTTCTTCATGAGAAGCTGGAAGCTGGGCAGGTCCTTGCCATGCTCCATGGAGCTGGCCATGGGCAGCCGCTCTGTCACCCACAACTGGAAGAGGAAGAGGGGGTCAGTGGAGGCCCAGAGGGCAAGGCA 66693736 66693906 66693797 66693798 66693798 exon -27 0.711111111111111 TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCTTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC mutant NA NA NA NA NA 227 753 0.985807823926137 0.999492991278242 0.992650407602189 NA NA 0.954162098566967 0.988946876161033 NA NA 0.03164572535917 0.0105461151172087 NA 0.971554487364 NA 0.0210959202381893 NA FALSE NA 1 7.573 . upstream_gene_variant MODIFIER SPTBN2 HGNC 11276 ENST00000532650 1 NA ACG C,A 1.647e-05 11:66693798 SPTBN2 HGNC Symbol protein_coding 43978 ENSG00000173898 ENSE00001187965 missense_variant 7.324898 0.9942 0.99192 0.67177 0.996776206344995 0 0.999977956591075 TRUE 8.18424e-06 ENSE00001187965_014 ENSE00001187965 014 11 66461208 66461377 - 35 90 45 G A 66461297 1861 81 GGGAACTTCTCTTTTGCCTTCAGCCTCTGCCTCACCTGGTTTTTCTTCATGAGAAGCTGGACGCTGGGCAGGTCCTTGCCATGCTCCATAGAGCTGGCCATGGGCAGCCGCTCTGTCACCCACAACTGGAAGAGGAAGAGGGGGTCAGTGGAGGCCCAGAGGGCAAGGCA 66693736 66693906 66693825 66693826 66693826 exon 36 0.4 TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCTATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC mutant NA NA NA NA NA 27 95 1 1 1 NA NA 0.954162098566967 0.988946876161033 NA NA 0.0458379014330332 0.0110531238389669 NA 0.971554487364 NA 0.0284455126360001 NA FALSE NA 0.998 0.56 . upstream_gene_variant MODIFIER SPTBN2 HGNC 11276 ENST00000532650 rs572124467 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGG G,A 8.237e-06 11:66693826 SPTBN2 HGNC Symbol protein_coding 43978 ENSG00000173898 ENSE00001187965 synonymous_variant 1.71518 0.97267 0.83296 0.67177 0.67049785232117 0 0.999977956591075 TRUE NA ENSE00001187965_016 ENSE00001187965 016 11 66461208 66461377 - 35 90 45 G A 66461322 1863 56 GGGAACTTCTCTTTTGCCTTCAGCCTCTGCCTCACCTGGTTTTTCTTCATGAGAAGCTGGACGCTGGGCAGGTCCTTGCCATGCTCCATGGAGCTGGCCATGGGCAGCCGCTCTATCACCCACAACTGGAAGAGGAAGAGGGGGTCAGTGGAGGCCCAGAGGGCAAGGCA 66693736 66693906 66693850 66693851 66693851 exon 11 0.122222222222222 TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGATAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC mutant 11 16 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.954162098566967 0.988946876161033 NA NA NA NA NA 0.971554487364 NA NA NA NA NA 0.006 1.624 . upstream_gene_variant MODIFIER SPTBN2 HGNC 11276 ENST00000532650 1 NA TGT G,A 8.236e-06 11:66693851 SPTBN2 HGNC Symbol protein_coding 43978 ENSG00000173898 ENSE00001187965 missense_variant 4.983355 0.98599 0.41258 0.67177 0.994041955482162 0 0.999977956591075 TRUE 8.18424e-06 ENSE00001187965_020 ENSE00001187965 020 11 66461208 66461377 - 35 90 45 G A 66461350 1867 28 GGGAACTTCTCTTTTGCCTTCAGCCTCTGCCTCACCTGGTTTTTCTTCATGAGAAGCTGGACGCTGGGCAGGTCCTTGCCATGCTCCATGGAGCTGGCCATGGGCAGCCGCTCTGTCACCCACAACTGGAAGAGGAAGAGGGAGTCAGTGGAGGCCCAGAGGGCAAGGCA 66693736 66693906 66693878 66693879 66693879 upstr_intron -18 -0.377777777777778 TGCCTTGCCCTCTGGGCCTCCACTGACTCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC TGCCTTGCCCTCTGGGCCTCCACTGACCCCCTCTTCCTCTTCCAGTTGTGGGTGACAGAGCGGCTGCCCATGGCCAGCTCCATGGAGCATGGCAAGGACCTGCCCAGCGTCCAGCTTCTCATGAAGAAAAACCAGGTGAGGCAGAGGCTGAAGGCAAAAGAGAAGTTCCC mutant NA NA NA NA NA 90 201 1 0.996121074991274 0.998060537495637 NA NA 0.954162098566967 0.988946876161033 NA NA 0.0458379014330332 0.0071741988302414 NA 0.971554487364 NA 0.0265060501316373 NA FALSE NA 0 -0.746 . upstream_gene_variant MODIFIER SPTBN2 HGNC 11276 ENST00000532650 rs377432560 1 NA A:0 A:0.0001 GGG G,A 9.885e-05 11:66693879 SPTBN2 HGNC Symbol protein_coding 43978 ENSG00000173898 ENSE00001187965 intron_variant 0.157994 0.25279 0.12457 0.069865 0.651050377017986 0.170465 0.999977956591075 TRUE 0.000116427 ENSE00001188452_000 ENSE00001188452 000 1 86488168 86488337 - 53 54 63 NA NA NA NA NA TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 NA NA NA NA NA NA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA natural NA NA NA NA NA 6475 4951 0.900609418153386 0.827711318632642 0.864160368393014 NA NA 0.900609418153386 0.827711318632642 NA NA 0 0 NA 0.864160368393014 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001188452 NA NA NA NA NA NA NA 1.06341054664097e-25 FALSE NA ENSE00001188452_002 ENSE00001188452 002 1 86488168 86488337 - 53 54 63 C T 86488179 2370 159 TTTTGAATTTATACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022495 86022496 86022496 downstr_intron 42 1.80769230769231 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTATAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 346 283 0.999523264726758 1 0.999761632363379 NA NA 0.900609418153386 0.827711318632642 NA NA 0.098913846573372 0.172288681367358 NA 0.864160368393014 NA 0.135601263970365 NA FALSE NA 0 -0.302 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:86022496 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 0.181317 0.11107 0.00101 0.061011 0.646964164479053 0.0414318 1.06341054664097e-25 FALSE 1.33012e-05 ENSE00001188452_003 ENSE00001188452 003 1 86488168 86488337 - 53 54 63 C G 86488179 2371 159 TTTTGAATTTAGACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022495 86022496 86022496 downstr_intron 42 1.80769230769231 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTCTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 396 26 0.996090237677321 0.993867897211106 0.994979067444214 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0954808195239358 0.166156578578463 NA 0.864160368393014 NA 0.1308186990512 NA FALSE NA 0 -0.302 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001188452 intron_variant 0.07008 0.21198 0.02527 0.061011 0.630349975966328 0.0414318 1.06341054664097e-25 FALSE 2.66023e-05 ENSE00001188452_004 ENSE00001188452 004 1 86488168 86488337 - 53 54 63 T C 86488189 2372 149 TTTTGAATTTACACTTTTTCACATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022505 86022506 86022506 downstr_intron 32 1.61538461538462 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATGTGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 309 523 0.997010944113808 0.993486270509354 0.995248607311581 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0964015259604223 0.165774951876712 NA 0.864160368393014 NA 0.131088238918567 NA FALSE NA 0 -0.672 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 17/57 1 NA ATA T,C 1.657e-05 1:86022506 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 0.811497 0.09291 0.02215 0.061011 0.898665488554297 0.0414318 1.06341054664097e-25 FALSE 1.29299e-05 ENSE00001188452_005 ENSE00001188452 005 1 86488168 86488337 - 53 54 63 A G 86488190 2373 148 TTTTGAATTTACACTTTTTCATGTTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022506 86022507 86022507 downstr_intron 31 1.59615384615385 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAACATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 99 254 0.979563302413004 1 0.989781651206502 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0789538842596181 0.172288681367358 NA 0.864160368393014 NA 0.125621282813488 NA FALSE NA 0.811 1.379 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 17/57 rs373130063 1 NA G:0.0006 G:0 TAT A,G 1.657e-05 1:86022507 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 0.998995 0.22202 0.38145 0.061011 0.875598145427107 0.0414318 1.06341054664097e-25 FALSE 1.29698e-05 ENSE00001188452_006 ENSE00001188452 006 1 86488168 86488337 - 53 54 63 A G 86488196 2374 142 TTTTGAATTTACACTTTTTCATATTTACGTAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022512 86022513 86022513 downstr_intron 25 1.48076923076923 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTACGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 197 372 0.943577154195218 1 0.971788577097609 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0429677360418327 0.172288681367358 NA 0.864160368393014 NA 0.107628208704595 NA FALSE NA 0.001 0.481 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 17/57 1 NA CAT A,G 8.282e-06 1:86022513 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 0.985061 0.26366 0.09999 0.061011 0.865592935941446 0.0414318 1.06341054664097e-25 FALSE NA ENSE00001188452_007 ENSE00001188452 007 1 86488168 86488337 - 53 54 63 G A 86488207 2375 131 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATAGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022523 86022524 86022524 downstr_intron 14 1.26923076923077 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACTATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 753 665 0.995856976823226 0.994616269673024 0.995236623248125 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0952475586698402 0.166904951040382 NA 0.864160368393014 NA 0.131076254855111 NA FALSE NA 0.066 0.492 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 17/57 rs201983840 1 NA TGG G,A 8.281e-06 1:86022524 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 1.867178 0.16574 0.06098 0.061011 0.746386664523644 0.12172 1.06341054664097e-25 FALSE 1.66387e-05 ENSE00001188452_008 ENSE00001188452 008 1 86488168 86488337 - 53 54 63 C T 86488221 2376 117 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACTTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022537 86022538 86022538 exon -1 1 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAAGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 112 609 0 0.0118050810908094 0.0059025405454047 NA NA 0.900609418153386 0.827711318632642 NA NA -0.900609418153386 -0.815906237541833 NA 0.864160368393014 NA -0.858257827847609 NA TRUE NA 1 3.922 . splice_region_variant&synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 17/58 rs376096881 1 NA T:0 T:0.0001 CCT C,T 8.279e-06 1:86022538 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 splice_region_variant 2.64996 0.99214 0.93464 0.553676 0.94105969970449 0 1.06341054664097e-25 FALSE 4.10415e-06 ENSE00001188452_009 ENSE00001188452 009 1 86488168 86488337 - 53 54 63 A C 86488230 2377 108 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCCGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022546 86022547 86022547 exon -10 0.833333333333333 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCGGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant 83 22 0.031346166497288 0 0.015673083248644 NA NA NA NA NA NA NA 0.900609418153386 0.827711318632642 NA NA NA NA NA 0.864160368393014 NA NA NA NA NA 1 1.089 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 17/58 1 NA CAG A,C 8.279e-06 1:86022547 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 synonymous_variant -0.038936 0.96879 0.70758 0.553676 0.792172794297045 0 1.06341054664097e-25 FALSE 8.1882e-06 ENSE00001188452_010 ENSE00001188452 010 1 86488168 86488337 - 53 54 63 G A 86488232 2378 106 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGAATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022548 86022549 86022549 exon -12 0.796296296296296 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATTCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 259 690 0.998721871951615 0.97181381314537 0.985267842548493 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0981124537982292 0.144102494512728 NA 0.864160368393014 NA 0.121107474155479 NA FALSE NA 1 4.004 rs641712 missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 17/58 rs641712&COSM3751421 1 possibly_damaging(0.53) A:0.2909 A:0.4168 A:0.2997 NA A:0.1329 A:0.3022 A:0.2658 A:0.3946 A:0.2838 GGA G,A 0.283 1:86022549 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 missense_variant 4.232192 0.98736 0.93008 0.553676 0.925191615957528 0 1.06341054664097e-25 FALSE 0.278788 ENSE00001188452_013 ENSE00001188452 013 1 86488168 86488337 - 53 54 63 G A 86488241 2381 97 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGATTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022557 86022558 86022558 exon -21 0.62962962962963 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAATCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 153 118 1 1 1 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0993905818466144 0.172288681367358 NA 0.864160368393014 NA 0.135839631606986 NA FALSE NA 0 0.004 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 17/58 1 benign(0.006) NA GGT G,A 1.656e-05 1:86022558 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 missense_variant 1.538791 0.67356 0.07413 0.553676 0.66267859697792 0 1.06341054664097e-25 FALSE 2.04085e-05 ENSE00001188452_015 ENSE00001188452 015 1 86488168 86488337 - 53 54 63 T C 86488252 2383 86 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCCCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022568 86022569 86022569 exon 23 0.425925925925926 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGGGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 329 402 1 0.980367460009062 0.990183730004531 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0993905818466144 0.152656141376419 NA 0.864160368393014 NA 0.126023361611517 NA FALSE NA 1 4.078 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 17/58 1 possibly_damaging(0.732) NA CTC T,C 8.278e-06 1:86022569 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 missense_variant 4.631786 0.98999 0.92734 0.553676 0.974409412675465 0 1.06341054664097e-25 FALSE 8.15741e-06 ENSE00001188452_016 ENSE00001188452 016 1 86488168 86488337 - 53 54 63 C T 86488256 2384 82 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCTTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022572 86022573 86022573 exon 19 0.351851851851852 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAAGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 433 14 1 0.976710761756978 0.988355380878489 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0993905818466144 0.148999443124335 NA 0.864160368393014 NA 0.124195012485475 NA FALSE NA 1 3.977 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 17/58 1 probably_damaging(0.995) NA CCT C,T 8.278e-06 1:86022573 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 missense_variant 6.013566 0.99206 0.93452 0.553676 0.998346343002434 0 1.06341054664097e-25 FALSE 8.15647e-06 ENSE00001188452_020 ENSE00001188452 020 1 86488168 86488337 - 53 54 63 A G 86488281 2388 57 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAGGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022597 86022598 86022598 upstr_intron -7 -0.0952380952380952 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCCTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 36 131 0.982083826249841 0.98746542087724 0.984774623563541 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0814744080964553 0.159754102244598 NA 0.864160368393014 NA 0.120614255170527 NA FALSE NA 0.019 1.978 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 16/57 1 NA AAG A,G 8.278e-06 1:86022598 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 splice_region_variant 1.658241 0.95748 0.24443 0.061011 0.873677362007308 0.953015 1.06341054664097e-25 FALSE 1.23962e-05 ENSE00001188452_021 ENSE00001188452 021 1 86488168 86488337 - 53 54 63 T A 86488290 2389 48 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTACATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022606 86022607 86022607 upstr_intron -16 -0.238095238095238 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGTAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 2569 377 0.978884984179364 1 0.989442492089682 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0782755660259787 0.172288681367358 NA 0.864160368393014 NA 0.125282123696668 NA FALSE NA 0.051 0.467 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 16/57 1 NA TTC T,A 8.278e-06 1:86022607 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 2.303483 0.36496 0.11542 0.061011 0.894012928468892 0.176901 1.06341054664097e-25 FALSE 4.14958e-06 ENSE00001188452_022 ENSE00001188452 022 1 86488168 86488337 - 53 54 63 A G 86488292 2390 46 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCGTGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022608 86022609 86022609 upstr_intron -18 -0.26984126984127 TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCACGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 304 2067 0.959055471830858 0.988873289828621 0.97396438082974 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0584460536774724 0.161161971195979 NA 0.864160368393014 NA 0.109804012436726 NA FALSE NA 0.047 2.794 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 16/57 rs563038545 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAT A,G 8.278e-06 1:86022609 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 1.97516 0.41612 0.22003 0.061011 0.922308191126046 0.616797 1.06341054664097e-25 FALSE 4.15614e-06 ENSE00001188452_024 ENSE00001188452 024 1 86488168 86488337 - 53 54 63 T C 86488305 2392 33 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTCATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022621 86022622 86022622 upstr_intron -31 -0.476190476190476 TTTCTTATAATATTGCCATGTTTGTGATACATGAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 571 122 0.921683109475406 0.982326276611423 0.952004693043414 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0210736913220202 0.154614957978781 NA 0.864160368393014 NA 0.0878443246504004 NA FALSE NA 0.041 0.207 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 16/57 rs374156945 1 NA C:0.0003 C:0 TTA T,C 8.279e-06 1:86022622 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 0.207712 0.23492 0.0414 0.061011 0.518299108068387 0.462603 1.06341054664097e-25 FALSE 1.27918e-05 ENSE00001188452_025 ENSE00001188452 025 1 86488168 86488337 - 53 54 63 T C 86488307 2393 31 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTACGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022623 86022624 86022624 upstr_intron -33 -0.507936507936508 TTTCTTATAATATTGCCATGTTTGTGATACGTAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 538 373 0.791505467109403 0.988941176802246 0.890223321955825 NA NA 0.900609418153386 0.827711318632642 NA NA -0.109103951043983 0.161229858169604 NA 0.864160368393014 NA 0.0260629535628108 NA FALSE NA 0 -0.298 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:86022624 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant -0.411334 0.17189 0.04084 0.061011 0.618666174770637 0.0414318 1.06341054664097e-25 FALSE 0.000102584 ENSE00001188452_026 ENSE00001188452 026 1 86488168 86488337 - 53 54 63 T A 86488307 2394 31 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTAAGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 86022623 86022624 86022624 upstr_intron -33 -0.507936507936508 TTTCTTATAATATTGCCATGTTTGTGATACTTAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 74 347 0.999442542110925 0.953412131531212 0.976427336821069 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0988331239575396 0.125700812898569 NA 0.864160368393014 NA 0.112266968428055 NA FALSE NA 0 -0.298 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001188452 intron_variant -0.123208 0.16513 0.02615 0.061011 0.541689290037776 0.0414318 1.06341054664097e-25 FALSE 4.27434e-06 ENSE00001188452_027 ENSE00001188452 027 1 86488168 86488337 - 53 54 63 A C 86488313 2395 25 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCCCAAACATGGCAATATTATAAGAAA 86022484 86022654 86022629 86022630 86022630 upstr_intron -39 -0.603174603174603 TTTCTTATAATATTGCCATGTTTGGGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 667 626 0.998821780138054 0.985804850083783 0.992313315110919 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0982123619846688 0.158093531451141 NA 0.864160368393014 NA 0.128152946717905 NA FALSE NA 0 0.37 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 16/57 1 NA CAC A,C 1.656e-05 1:86022630 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 0.380155 0.20957 0.09094 0.061011 0.742512445618107 0.0414318 1.06341054664097e-25 FALSE 8.65471e-06 ENSE00001188452_029 ENSE00001188452 029 1 86488168 86488337 - 53 54 63 A G 86488316 2397 22 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAGACATGGCAATATTATAAGAAA 86022484 86022654 86022632 86022633 86022633 upstr_intron -42 -0.650793650793651 TTTCTTATAATATTGCCATGTCTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 1613 424 0.932154237608097 0.998879343866635 0.965516790737366 NA NA 0.900609418153386 0.827711318632642 NA NA 0.0315448194547113 0.171168025233993 NA 0.864160368393014 NA 0.101356422344352 NA FALSE NA 0.002 1.507 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 16/57 1 NA AAA A,G 1.656e-05 1:86022633 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 0.734204 0.27003 0.19341 0.061011 0.867379406880853 0.0414318 1.06341054664097e-25 FALSE 8.70951e-06 ENSE00001188452_030 ENSE00001188452 030 1 86488168 86488337 - 53 54 63 C A 86488323 2398 15 TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTACCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCCTGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGAAATATTATAAGAAA 86022484 86022654 86022639 86022640 86022640 upstr_intron -49 -0.761904761904762 TTTCTTATAATATTTCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA mutant NA NA NA NA NA 831 689 0.997107307402332 0.988346149886696 0.992726728644514 NA NA 0.900609418153386 0.827711318632642 NA NA 0.096497889248946 0.160634831254054 NA 0.864160368393014 NA 0.1285663602515 NA FALSE NA 0 -1.82 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 16/57 1 NA GCA C,A 8.279e-06 1:86022640 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188452 intron_variant 0.711552 0.27687 0.05703 0.061011 0.635648783760036 0.0414318 1.06341054664097e-25 FALSE 4.43518e-06 ENSE00001188452_BRK ENSE00001188452 BRK 1 86488168 86488337 - 53 54 63 A,G; T,T NA NA NA TTTTGAATTTACACTTTTTCATATTTACATAAAATTAATGGTATAAACATTGGCTTGTCTCCAGGATACCCGGGTTCTCCTAGCTCTCCTGCTGTGCCTTGTTCACCAAGGAAAGCACAATTTCATGCAAAGATACTTATGTATCACAAACATGGCAATATTATAAGAAA 86022484 86022654 NA NA NA NA NA NA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCTTGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGCCAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA TTTCTTATAATATTGCCATGTTTGTGATACATAAGTATCTTTGCATGAAATTGTGCTTTCCAGGGTGAACAAGGCACAGCAGGAGAGCTAGGAGAACCCGGGTATCCTGGAGACAAGGTAATGTTTATACCATTAATTTTATGTAAATATGAAAAAGTGTAAATTCAAAA control NA NA NA NA NA 363 760 0 0.000420988637005133 0.000210494318502566 NA NA 0.900609418153386 0.827711318632642 NA NA -0.900609418153386 -0.827290329995637 NA 0.864160368393014 NA -0.863949874074511 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001188452 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001188472_000 ENSE00001188472 000 1 86523557 86523726 - 57 45 68 NA NA NA NA NA TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 NA NA NA NA NA NA TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT natural NA NA NA NA NA 663 16 1 0.989984547956536 0.994992273978268 NA NA 1 0.989984547956536 NA NA 0 0 NA 0.994992273978268 NA 0 NA FALSE NA NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001188472 NA NA NA NA NA NA NA 1.06341054664097e-25 FALSE NA ENSE00001188472_002 ENSE00001188472 002 1 86523557 86523726 - 57 45 68 G A 86523579 2418 148 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGTTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86057895 86057896 86057896 downstr_intron 35 1.625 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGTTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 29 849 1 0.999279552599119 0.999639776299559 NA NA 1 0.989984547956536 NA NA 0 0.00929500464258326 NA 0.994992273978268 NA 0.00464750232129163 NA FALSE NA 0 -0.691 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 10/57 1 NA AGC G,A 8.276e-06 1:86057896 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 intron_variant 0.450187 0.21869 0.05548 0.061011 0.615237484299497 0.0832456 1.06341054664097e-25 FALSE 4.17167e-06 ENSE00001188472_004 ENSE00001188472 004 1 86523557 86523726 - 57 45 68 T C 86523582 2420 145 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCGTGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86057898 86057899 86057899 downstr_intron 32 1.57142857142857 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCGTGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 610 188 0.821316264141799 0.996058703174227 0.908687483658013 NA NA 1 0.989984547956536 NA NA -0.178683735858201 0.00607415521769095 NA 0.994992273978268 NA -0.086304790320255 NA FALSE NA 0.002 -0.114 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:86057899 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 intron_variant 0.100844 0.15871 0.13319 0.061011 0.751145029484517 0.0832456 1.06341054664097e-25 FALSE 2.47719e-05 ENSE00001188472_007 ENSE00001188472 007 1 86523557 86523726 - 57 45 68 G A 86523595 2423 132 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATTATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86057911 86057912 86057912 downstr_intron 19 1.33928571428571 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATTATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 39 253 1 1 1 NA NA 1 0.989984547956536 NA NA 0 0.0100154520434643 NA 0.994992273978268 NA 0.00500772602173216 NA FALSE NA 0.014 -0.004 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:86057912 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 intron_variant 0.072919 0.20571 0.18417 0.061011 0.422633333991364 0.165593 1.06341054664097e-25 FALSE 9.82849e-05 ENSE00001188472_011 ENSE00001188472 011 1 86523557 86523726 - 57 45 68 T C 86523624 2427 103 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAGAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86057940 86057941 86057941 exon -11 0.777777777777778 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAGAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 14 315 1 1 1 NA NA 1 0.989984547956536 NA NA 0 0.0100154520434643 NA 0.994992273978268 NA 0.00500772602173216 NA FALSE NA 1 4.089 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 10/58 rs536994450 1 possibly_damaging(0.86) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTT T,C 8.276e-06 1:86057941 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 missense_variant 3.598266 0.98805 0.94721 0.553676 0.996326792622638 0 1.06341054664097e-25 FALSE 4.06884e-06 ENSE00001188472_012 ENSE00001188472 012 1 86523557 86523726 - 57 45 68 C T 86523639 2428 88 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGATAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86057955 86057956 86057956 exon 20 0.444444444444444 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGATAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 45 243 1 1 1 NA NA 1 0.989984547956536 NA NA 0 0.0100154520434643 NA 0.994992273978268 NA 0.00500772602173216 NA FALSE NA 1 5.521 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 10/58 1 probably_damaging(1) NA ACC C,T 8.277e-06 1:86057956 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 missense_variant 5.384523 0.99024 0.98742 0.553676 0.995191456625778 0 1.06341054664097e-25 FALSE 8.1367e-06 ENSE00001188472_015 ENSE00001188472 015 1 86523557 86523726 - 57 45 68 A G 86523654 2431 73 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTCAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86057970 86057971 86057971 exon 5 0.111111111111111 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTCAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 146 467 0.9860955036072 0.9952154768957 0.99065549025145 NA NA 1 0.989984547956536 NA NA -0.0139044963927997 0.00523092893916444 NA 0.994992273978268 NA -0.00433678372681762 NA FALSE NA 1 6.593 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 10/58 1 possibly_damaging(0.636) NA TAA A,G 1.655e-05 1:86057971 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 missense_variant 4.269149 0.98108 0.98864 0.553676 0.97866409227152 0 1.06341054664097e-25 FALSE 1.62848e-05 ENSE00001188472_016 ENSE00001188472 016 1 86523557 86523726 - 57 45 68 C G 86523659 2432 68 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCACGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86057975 86057976 86057976 upstr_intron -1 0 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCACGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 253 304 0 0.00105372119088308 0.000526860595441541 NA NA 1 0.989984547956536 NA NA -1 -0.988930826765653 NA 0.994992273978268 NA -0.994465413382826 NA TRUE NA 1 5.521 . splice_acceptor_variant HIGH COL24A1 HGNC 20821 ENST00000436319 9/57 1 NA HC CCT C,G 8.278e-06 1:86057976 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 splice_acceptor_variant 5.561974 0.99075 0.98969 0.074636 0.995051134160602 0.983058 1.06341054664097e-25 FALSE 4.07508e-06 ENSE00001188472_021 ENSE00001188472 021 1 86523557 86523726 - 57 45 68 G T 86523680 2437 47 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGAAAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86057996 86057997 86057997 upstr_intron -22 -0.308823529411765 TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGAAAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 112 213 0.995123126657454 0.978965044915157 0.987044085786305 NA NA 1 0.989984547956536 NA NA -0.00487687334254627 -0.0110195030413784 NA 0.994992273978268 NA -0.00794818819196236 NA FALSE NA 0 0.19 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 9/57 1 NA TGT G,T 8.279e-06 1:86057997 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 intron_variant -0.029586 0.2138 0.04294 0.061011 0.569987155739999 0.145993 1.06341054664097e-25 FALSE 4.09561e-06 ENSE00001188472_024 ENSE00001188472 024 1 86523557 86523726 - 57 45 68 C A 86523697 2440 30 TATTAATCTATTTATTAACTCTTTAAAAATTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 86058013 86058014 86058014 upstr_intron -39 -0.558823529411765 TATTAATCTATTTATTAACTCTTTAAAAATTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT mutant NA NA NA NA NA 141 177 1 1 1 NA NA 1 0.989984547956536 NA NA 0 0.0100154520434643 NA 0.994992273978268 NA 0.00500772602173216 NA FALSE NA 0.001 -0.304 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:86058014 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001188472 intron_variant 0.14707 0.25926 0.05895 0.061011 0.559342890212826 0.148682 1.06341054664097e-25 FALSE 8.88028e-06 ENSE00001188472_BRK ENSE00001188472 BRK 1 86523557 86523726 - 57 45 68 A,G; T,T NA NA NA TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCTTGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAACCAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT 86057873 86058043 NA NA NA NA NA NA TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCTTGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAACCAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT TATTAATCTATTTATTAACTCTTTAAAAAGTACTGTAGTATGATGACAATGTCTTTTGTTTACACCAGGGTTTAGCTGGACCAGAAGGTAATCCAGGTCCTAAAGGTGCACAAGTAAGTAGGCATTTCCATCATTCTGTTAAGCATGCTTGCCTAAAAGTAGAATGAAAT control NA NA NA NA NA 23 276 0 0 0 NA NA 1 0.989984547956536 NA NA -1 -0.989984547956536 NA 0.994992273978268 NA -0.994992273978268 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001188472 NA NA NA NA NA NA NA 1.06341054664097e-25 FALSE NA ENSE00001190140_000 ENSE00001190140 000 20 3782886 3783055 + 42 96 32 NA NA NA NA NA CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 NA NA NA NA NA NA AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG natural 199 108 0.925126223259751 0.94781294945306 0.936469586356406 1081 2031 0.97127578041448 0.997153273526555 0.984214526970518 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 0 0 0 0 0.936469586356406 0.984214526970518 0 0 0 FALSE FALSE NA NA NA NA NA CDC25B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25B NA NA NA ENSG00000101224 ENSE00003657435 NA NA NA NA NA NA NA 0.590733232372986 FALSE NA ENSE00001190140_002 ENSE00001190140 002 20 3782886 3783055 + 42 96 32 C T 3782909 107 24 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATAGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802261 3802262 3802262 upstr_intron -19 -0.428571428571429 AGCCCCACCCTGACCCTGGCCTCTATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 160 38 1 1 1 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 0.00284672647344453 0.936469586356406 0.984214526970518 NA 0.0157854730294825 NA FALSE NA 0 -0.741 . intron_variant MODIFIER CDC25B HGNC 1726 ENST00000340833 9/14 1 NA CCA C,T 8.236e-06 20:3802262 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 intron_variant 0.314221 0.24741 0.0469 0.256867 0.701385299093607 0.0968874 0.590733232372986 FALSE 4.10826e-06 ENSE00001190140_003 ENSE00001190140 003 20 3782886 3783055 + 42 96 32 C T 3782920 108 35 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAATGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802272 3802273 3802273 upstr_intron -8 -0.166666666666667 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCATTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 11 14 1 1 1 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 0.00284672647344453 0.936469586356406 0.984214526970518 NA 0.0157854730294825 NA FALSE NA 0.001 0.985 . splice_region_variant&intron_variant LOW CDC25B HGNC 1726 ENST00000340833 9/14 1 NA ACT C,T 4.942e-05 20:3802273 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 splice_region_variant 0.74634 0.23429 0.04431 0.256867 0.618285700952256 0.171392 0.590733232372986 FALSE 4.10199e-05 ENSE00001190140_005 ENSE00001190140 005 20 3782886 3783055 + 42 96 32 G A 3782935 110 50 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGTGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802287 3802288 3802288 exon 8 0.0833333333333333 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCACGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 16 487 1 0.999686805248598 0.999843402624299 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 0.00253353172204251 0.936469586356406 0.984214526970518 NA 0.0156288756537815 NA FALSE NA 0.015 3.133 . missense_variant MODERATE CDC25B HGNC 1726 ENST00000340833 10/15 COSM4098345&COSM4098344 1 tolerated(0.06) possibly_damaging(0.66) NA CGC G,A 4.942e-05 20:3802288 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 missense_variant 4.974629 0.60064 0.50329 0.706548 0.999065094797177 0 0.590733232372986 FALSE 5.33395e-05 ENSE00001190140_006 ENSE00001190140 006 20 3782886 3783055 + 42 96 32 C T 3782936 111 51 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACACGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802288 3802289 3802289 exon 9 0.09375 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGTGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 107 52 1 0.996946335894003 0.998473167947001 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 -0.000206937632552529 0.936469586356406 0.984214526970518 NA 0.0142586409764839 NA FALSE NA 0 -4.193 rs143612466 synonymous_variant LOW CDC25B HGNC 1726 ENST00000340833 10/15 rs143612466 1 NA T:0.0002 T:0 GCG C,T 1.647e-05 20:3802289 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 synonymous_variant 1.785981 0.10143 0.03606 0.706548 0.619040596711238 0 0.590733232372986 FALSE 1.64092e-05 ENSE00001190140_007 ENSE00001190140 007 20 3782886 3783055 + 42 96 32 G A 3782937 112 52 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGATGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802289 3802290 3802290 exon 10 0.104166666666667 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCATCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 433 139 1 0.994035176828362 0.997017588414181 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 -0.0031180966981933 0.936469586356406 0.984214526970518 NA 0.0128030614436636 NA FALSE NA 0.02 0.604 . missense_variant MODERATE CDC25B HGNC 1726 ENST00000340833 10/15 1 tolerated(0.2) benign(0.005) NA CGT G,A 1.647e-05 20:3802290 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 missense_variant 1.57074 0.28931 0.25443 0.706548 0.964362147203081 0 0.590733232372986 FALSE 2.87156e-05 ENSE00001190140_008 ENSE00001190140 008 20 3782886 3783055 + 42 96 32 C T 3782939 113 54 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGAACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802291 3802292 3802292 exon 12 0.125 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTTCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 10 50 1 1 1 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 0.00284672647344453 0.936469586356406 0.984214526970518 NA 0.0157854730294825 NA FALSE NA 0.2 0.16 rs11570010 synonymous_variant LOW CDC25B HGNC 1726 ENST00000340833 10/15 rs11570010 1 T:0.0042 T:0 T:0 NA T:0.0208 T:0 T:0 TCC C,T 0.001301 20:3802292 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 synonymous_variant 1.834622 0.65869 0.5837 0.706548 0.65052395998627 0 0.590733232372986 FALSE 0.00127542 ENSE00001190140_009 ENSE00001190140 009 20 3782886 3783055 + 42 96 32 C T 3782942 114 57 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGAAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802294 3802295 3802295 exon 15 0.15625 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTTCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 57 205 0.987844495679556 0.991417456158097 0.989630975918827 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0165687152650769 -0.00573581736845885 0.936469586356406 0.984214526970518 NA 0.00541644894830901 NA FALSE NA 0.862 0.153 . synonymous_variant LOW CDC25B HGNC 1726 ENST00000340833 10/15 1 NA TCC C,T 8.236e-06 20:3802295 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 synonymous_variant 1.537538 0.873 0.6972 0.706548 0.722467475901812 0 0.590733232372986 FALSE NA ENSE00001190140_010 ENSE00001190140 010 20 3782886 3783055 + 42 96 32 G A 3782944 115 59 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGTGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802296 3802297 3802297 exon 17 0.177083333333333 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCACTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 23 35 0.984747124333217 1 0.992373562166609 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0134713439187374 0.00284672647344453 0.936469586356406 0.984214526970518 NA 0.00815903519609096 NA FALSE NA 1 3.955 . missense_variant MODERATE CDC25B HGNC 1726 ENST00000340833 10/15 rs374005977 1 deleterious(0.02) probably_damaging(0.948) NA A:0 A:0.0001 CGC G,A 2.471e-05 20:3802297 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 missense_variant 6.851917 0.9366 0.92319 0.706548 0.999416408115366 0 0.590733232372986 FALSE NA ENSE00001190140_012 ENSE00001190140 012 20 3782886 3783055 + 42 96 32 C G 3782955 117 70 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACACTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802307 3802308 3802308 exon 28 0.291666666666667 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCAGTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 136 143 0.955216836126997 0.994429469653511 0.974823152890254 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA -0.0160589442874824 -0.00272380387304483 0.936469586356406 0.984214526970518 NA -0.00939137408026364 NA FALSE NA 0 -0.263 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:3802308 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 missense_variant 3.662642 0.88984 0.22134 0.706548 0.985604485305448 0 0.590733232372986 FALSE 4.10523e-06 ENSE00001190140_013 ENSE00001190140 013 20 3782886 3783055 + 42 96 32 C T 3782955 118 70 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAATGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802307 3802308 3802308 exon 28 0.291666666666667 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCATTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 62 43 1 1 1 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 0.00284672647344453 0.936469586356406 0.984214526970518 NA 0.0157854730294825 NA FALSE NA 0 -0.263 NA NA NA CDC25B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25B NA NA NA ENSG00000101224 ENSE00003657435 synonymous_variant 1.961607 0.87376 0.07094 0.706548 0.717805917025997 0 0.590733232372986 FALSE 8.21045e-06 ENSE00001190140_014 ENSE00001190140 014 20 3782886 3783055 + 42 96 32 G A 3782959 119 74 CCCCAAGGTACCCCCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGATACAGTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802311 3802312 3802312 exon 32 0.333333333333333 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTATCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 52 159 1 0.994809910723441 0.997404955361721 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 -0.00234336280311442 0.936469586356406 0.984214526970518 NA 0.013190428391203 NA FALSE NA 1 3.267 . missense_variant MODERATE CDC25B HGNC 1726 ENST00000340833 10/15 1 deleterious(0) possibly_damaging(0.667) NA TGT G,A 8.236e-06 20:3802312 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 missense_variant 6.128598 0.944 0.83119 0.706548 0.996375037589834 0 0.590733232372986 FALSE NA ENSE00001190140_024 ENSE00001190140 024 20 3782886 3783055 + 42 96 32 A G 3783026 129 141 CCCCAAGGTACCCCCTTCGCTGCTGCAGGCACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802378 3802379 3802379 downstr_intron 3 1.09677419354839 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTGCCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 377 66 0.8 0.827958030939864 0.813979015469932 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA -0.17127578041448 -0.169195242586692 0.936469586356406 0.984214526970518 NA -0.170235511500586 NA FALSE NA 0.934 1.812 . splice_region_variant&intron_variant LOW CDC25B HGNC 1726 ENST00000340833 10/14 1 NA TAC A,G 5.766e-05 20:3802379 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 splice_region_variant 1.293372 0.7986 0.39961 0.099367 0.885651824285631 0.382825 0.590733232372986 FALSE 4.59409e-05 ENSE00001190140_026 ENSE00001190140 026 20 3782886 3783055 + 42 96 32 A C 3783035 131 150 CCCCAAGGTACCCCCTTCGCGGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802387 3802388 3802388 downstr_intron 12 1.38709677419355 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCCGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 19 562 1 0.999650596444117 0.999825298222059 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0287242195855204 0.00249732291756188 0.936469586356406 0.984214526970518 NA 0.0156107712515411 NA FALSE NA 0 -0.287 . intron_variant MODIFIER CDC25B HGNC 1726 ENST00000340833 10/14 1 NA CAG A,C 8.237e-06 20:3802388 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 intron_variant -0.195828 0.21949 0.07386 0.099367 0.335900718014786 0.046875 0.590733232372986 FALSE 4.19946e-06 ENSE00001190140_027 ENSE00001190140 027 20 3782886 3783055 + 42 96 32 C T 3783037 132 152 CCCCAAGGTACCCCCTTCACTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802389 3802390 3802390 downstr_intron 14 1.45161290322581 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGTGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 185 206 0.982131219905179 1 0.991065609952589 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA 0.0108554394906992 0.00284672647344453 0.936469586356406 0.984214526970518 NA 0.00685108298207188 NA FALSE NA 0 -0.642 . intron_variant MODIFIER CDC25B HGNC 1726 ENST00000340833 10/14 1 NA GCG C,T 8.237e-06 20:3802390 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 intron_variant -0.222814 0.19448 0.07795 0.099367 0.332032085611785 0.0476178 0.590733232372986 FALSE 2.10489e-05 ENSE00001190140_028 ENSE00001190140 028 20 3782886 3783055 + 42 96 32 G A 3783042 133 157 CCCCAAGGTACCCTCTTCGCTGCTGCAGGTACCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGCGGGCTTTCTGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 3802394 3802395 3802395 downstr_intron 19 1.61290322580645 AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGAGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG mutant NA NA NA NA NA 89 329 0.8893088009355 1 0.94465440046775 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 NA NA -0.0819669794789792 0.00284672647344453 0.936469586356406 0.984214526970518 NA -0.0395601265027674 NA FALSE NA 0.004 -0.07 . intron_variant MODIFIER CDC25B HGNC 1726 ENST00000340833 10/14 1 NA GGG G,A 2.471e-05 20:3802395 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003657435 intron_variant 0.157901 0.2751 0.09892 0.099367 0.366263288894177 0.0476178 0.590733232372986 FALSE 8.48846e-06 ENSE00001190140_BRK ENSE00001190140 BRK 20 3782886 3783055 + 42 96 32 A,G; T,T NA NA NA CCCCAAGGTACCCCCTTCGCTGCTGCAGGTGGCTTAGAGTAATCTCCAATCAGCTCTCGGTGGTCACTGTCCAGGAGGTTCTCGATCTCATCGTGACACAGTGATTTTGAGCGGAGGACGCGGGCTTTAAGGAAAGTGAGTCAGATGGAGGCCAGGGTCAGGGTGGGGCT 3802238 3802408 NA NA NA NA NA NA AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCTTAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGCCACCTGCAGCAGCGAAGGGGGTACCTTGGGG AGCCCCACCCTGACCCTGGCCTCCATCTGACTCACTTTCCAGAAAGCCCGCGTCCTCCGCTCAAAATCACTGTGTCACGATGAGATCGAGAACCTCCTGGACAGTGACCACCGAGAGCTGATTGGAGATTACTCTAAGGTACCTGCAGCAGCGAAGGGGGTACCTTGGGG control 99 135 0 0 0 NA NA NA NA NA 0.925126223259751 0.94781294945306 0.97127578041448 0.997153273526555 -0.925126223259751 -0.94781294945306 NA NA 0.936469586356406 0.984214526970518 -0.936469586356406 NA NA NA TRUE NA NA NA NA NA CDC25B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25B NA NA NA ENSG00000101224 ENSE00003657435 NA NA NA NA NA NA NA 0.590733232372986 FALSE NA ENSE00001190638_000 ENSE00001190638 000 17 78857162 78857331 + 57 66 47 NA NA NA NA NA TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 NA NA NA NA NA NA TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG natural 31 25 0.99504973612812 0.996130271234143 0.995590003681131 1728 1774 0.847127073253714 0.992292635936883 0.919709854595299 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 0 0 0 0 0.995590003681131 0.919709854595299 0 0 0 FALSE FALSE NA NA NA NA NA RPTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPTOR NA NA NA ENSG00000141564 ENSE00003564222 NA NA NA NA NA NA NA 0.999999983261949 TRUE NA ENSE00001190638_001 ENSE00001190638 001 17 78857162 78857331 + 57 66 47 G A 78857172 3348 11 TTGGGAATGAAAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883371 80883372 80883372 upstr_intron -47 -0.807017543859649 TTGGGAATGAAAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 37 168 1 1 1 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.152872926746286 0.00770736406311656 0.995590003681131 0.919709854595299 NA 0.0802901454047012 NA FALSE NA 0 -1.115 . intron_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 10/29 1 NA AGA G,A 8.236e-06 17:80883372 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 intron_variant 0.085869 0.16941 0.0323 0.099367 0.724451057891799 0.054533 0.999999983261949 TRUE 4.06276e-06 ENSE00001190638_002 ENSE00001190638 002 17 78857162 78857331 + 57 66 47 A T 78857180 3349 19 TTGGGAATGAGAGTTTCCTCTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883379 80883380 80883380 upstr_intron -39 -0.666666666666667 TTGGGAATGAGAGTTTCCTCTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 269 578 0.883638016588303 1 0.941819008294152 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.0365109433345889 0.00770736406311656 0.995590003681131 0.919709854595299 NA 0.0221091536988527 NA FALSE NA 0 -3.213 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:80883380 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 intron_variant -0.170529 0.08189 0.00837 0.099367 0.547138758928312 0.054533 0.999999983261949 TRUE 0.000219329 ENSE00001190638_003 ENSE00001190638 003 17 78857162 78857331 + 57 66 47 A C 78857180 3350 19 TTGGGAATGAGAGTTTCCCCTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883379 80883380 80883380 upstr_intron -39 -0.666666666666667 TTGGGAATGAGAGTTTCCCCTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 300 27 1 1 1 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.152872926746286 0.00770736406311656 0.995590003681131 0.919709854595299 NA 0.0802901454047012 NA FALSE NA 0 -3.213 NA NA NA RPTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPTOR NA NA NA ENSG00000141564 ENSE00003564222 intron_variant -0.301397 0.09755 0.01929 0.099367 0.327194825753876 0.054533 0.999999983261949 TRUE 1.62466e-05 ENSE00001190638_004 ENSE00001190638 004 17 78857162 78857331 + 57 66 47 G A 78857185 3351 24 TTGGGAATGAGAGTTTCCACTGAAGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883384 80883385 80883385 upstr_intron -34 -0.578947368421053 TTGGGAATGAGAGTTTCCACTGAAGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 496 274 0.875823748760613 0.985658963599097 0.930741356179855 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.028696675506899 -0.00663367233778689 0.995590003681131 0.919709854595299 NA 0.0110315015845561 NA FALSE NA 0 -0.143 . intron_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 10/29 1 NA AGG G,A 8.236e-06 17:80883385 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 intron_variant 0.275248 0.14456 0.01314 0.099367 0.798627593765851 0.0410053 0.999999983261949 TRUE 4.06138e-06 ENSE00001190638_005 ENSE00001190638 005 17 78857162 78857331 + 57 66 47 G A 78857187 3352 26 TTGGGAATGAGAGTTTCCACTGAGGAGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883386 80883387 80883387 upstr_intron -32 -0.543859649122807 TTGGGAATGAGAGTTTCCACTGAGGAGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 293 226 0.985501501879053 0.999299565757812 0.992400533818433 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.138374428625339 0.00700692982092865 0.995590003681131 0.919709854595299 NA 0.0726906792231339 NA FALSE NA 0 -0.426 . intron_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 10/29 1 NA GGG G,A 8.236e-06 17:80883387 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 intron_variant 0.135864 0.10501 0.0072 0.099367 0.826046051708119 0.0410053 0.999999983261949 TRUE 8.12236e-06 ENSE00001190638_006 ENSE00001190638 006 17 78857162 78857331 + 57 66 47 G C 78857188 3353 27 TTGGGAATGAGAGTTTCCACTGAGGGCAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883387 80883388 80883388 upstr_intron -31 -0.526315789473684 TTGGGAATGAGAGTTTCCACTGAGGGCAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 627 926 0.991744193874805 0.998123930758821 0.994934062316813 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.144617120621091 0.00583129482193756 0.995590003681131 0.919709854595299 NA 0.0752242077215142 NA FALSE NA 0 -2.2 . intron_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 10/29 1 NA GGA G,C 8.236e-06 17:80883388 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 intron_variant -0.441072 0.09397 0.00667 0.099367 0.541025668809762 0.0410053 0.999999983261949 TRUE 4.06108e-06 ENSE00001190638_007 ENSE00001190638 007 17 78857162 78857331 + 57 66 47 C T 78857192 3354 31 TTGGGAATGAGAGTTTCCACTGAGGGGAGATGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883391 80883392 80883392 upstr_intron -27 -0.456140350877193 TTGGGAATGAGAGTTTCCACTGAGGGGAGATGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 78 2030 0.953488059826599 0.967718366765837 0.960603213296218 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.106360986572885 -0.0245742691710461 0.995590003681131 0.919709854595299 NA 0.0408933587009193 NA FALSE NA 0 -0.359 . intron_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 10/29 1 NA ACG C,T 1.647e-05 17:80883392 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 intron_variant 0.095422 0.12952 0.01832 0.099367 0.756154431321195 0.0410053 0.999999983261949 TRUE 2.03072e-05 ENSE00001190638_008 ENSE00001190638 008 17 78857162 78857331 + 57 66 47 C T 78857195 3355 34 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGATCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883394 80883395 80883395 upstr_intron -24 -0.403508771929825 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGATCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 649 849 0.984651436280019 1 0.992325718140009 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.137524363026304 0.00770736406311656 0.995590003681131 0.919709854595299 NA 0.0726158635447105 NA FALSE NA 0.006 0.481 . intron_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 10/29 1 NA ACC C,T 4.942e-05 17:80883395 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 intron_variant 0.35839 0.17946 0.04901 0.099367 0.851553162293588 0.0410053 0.999999983261949 TRUE 4.06088e-05 ENSE00001190638_010 ENSE00001190638 010 17 78857162 78857331 + 57 66 47 C A 78857228 3357 67 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACAGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883427 80883428 80883428 exon 10 0.151515151515152 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACAGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 377 434 0.997629504573964 0.997440530205608 0.997535017389786 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.15050243132025 0.00514789426872431 0.995590003681131 0.919709854595299 NA 0.0778251627944871 NA FALSE NA 0.989 1.536 rs151265255 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 rs151265255 1 A:0.0010 A:0 A:0 NA A:0 A:0.005 A:0 A:0 A:0.0005 CCG A,A 0.002323 17:80883428 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 synonymous_variant 2.250464 0.51664 0.2577 0.695654 0.552946887070984 0 0.999999983261949 TRUE 0.00255413 ENSE00001190638_011 ENSE00001190638 011 17 78857162 78857331 + 57 66 47 G A 78857229 3358 68 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCAGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883428 80883429 80883429 exon 11 0.166666666666667 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCAGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 555 504 0.966899133068144 0.978390814616805 0.972644973842474 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.11977205981443 -0.0139018213200784 0.995590003681131 0.919709854595299 NA 0.0529351192471755 NA FALSE NA 1 8.887 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 1 NA CGG G,A 0.0001071 17:80883429 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 missense_variant 6.714735 0.99068 0.98884 0.695654 0.999331620914112 0 0.999999983261949 TRUE 0.000154303 ENSE00001190638_012 ENSE00001190638 012 17 78857162 78857331 + 57 66 47 T C 78857235 3359 74 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCACGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883434 80883435 80883435 exon 17 0.257575757575758 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCACGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 378 38 0.999235397501424 1 0.999617698750712 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.15210832424771 0.00770736406311656 0.995590003681131 0.919709854595299 NA 0.0799078441554131 NA FALSE NA 1 7.232 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 1 NA ATG T,C 8.236e-06 17:80883435 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 missense_variant 2.855849 0.98766 0.98008 0.646311 0.98914533644128 0 0.999999983261949 TRUE 4.06065e-06 ENSE00001190638_014 ENSE00001190638 014 17 78857162 78857331 + 57 66 47 G A 78857239 3361 78 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACAGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883438 80883439 80883439 exon 21 0.318181818181818 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACAGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 2389 324 0.998659643323271 0.999511562407072 0.999085602865172 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.151532570069557 0.0072189264701884 0.995590003681131 0.919709854595299 NA 0.0793757482698728 NA FALSE NA 0 -5.988 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 1 NA CGG G,A 4.118e-05 17:80883439 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 synonymous_variant 0.684524 0.09901 0.01409 0.646311 0.506292576026153 0 0.999999983261949 TRUE 3.24849e-05 ENSE00001190638_015 ENSE00001190638 015 17 78857162 78857331 + 57 66 47 C T 78857251 3362 90 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTTGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883450 80883451 80883451 exon 33 0.5 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTTGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 398 1465 0.823155057934475 0.866281962906656 0.844718510420565 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA -0.0239720153192393 -0.126010673030227 0.995590003681131 0.919709854595299 NA -0.0749913441747333 NA FALSE NA 0.974 0.037 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 1 NA TCG C,T 8.236e-06 17:80883451 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 synonymous_variant 1.521403 0.95014 0.61874 0.706548 0.485324669009664 0 0.999999983261949 TRUE 4.06068e-06 ENSE00001190638_016 ENSE00001190638 016 17 78857162 78857331 + 57 66 47 G T 78857252 3363 91 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCTCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883451 80883452 80883452 exon -33 0.515151515151515 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCTCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 972 105 1 0.962035340867649 0.981017670433824 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.152872926746286 -0.0302572950692347 0.995590003681131 0.919709854595299 NA 0.0613078158385256 NA FALSE NA 1 8.887 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 1 NA CGC G,T 8.236e-06 17:80883452 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 missense_variant 1.830455 0.991 0.99049 0.706548 0.864284119095875 0 0.999999983261949 TRUE 4.06075e-06 ENSE00001190638_018 ENSE00001190638 018 17 78857162 78857331 + 57 66 47 C G 78857254 3365 93 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCGGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883453 80883454 80883454 exon -31 0.545454545454545 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCGGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 133 40 0.83141529416831 1 0.915707647084155 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA -0.0157117790854043 0.00770736406311656 0.995590003681131 0.919709854595299 NA -0.00400220751114388 NA FALSE NA 0.002 -1.961 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:80883454 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 synonymous_variant 0.980259 0.47974 0.0861 0.706548 0.431714443058191 0 0.999999983261949 TRUE 8.1213e-06 ENSE00001190638_019 ENSE00001190638 019 17 78857162 78857331 + 57 66 47 C T 78857254 3366 93 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCTGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883453 80883454 80883454 exon -31 0.545454545454545 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCTGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 263 332 1 0.995392720535908 0.997696360267954 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.152872926746286 0.003100084599025 0.995590003681131 0.919709854595299 NA 0.0779865056726554 NA FALSE NA 0.002 -1.961 NA NA NA RPTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPTOR NA NA NA ENSG00000141564 ENSE00003564222 synonymous_variant 1.506828 0.41297 0.0153 0.706548 0.498967686190161 0 0.999999983261949 TRUE 8.1213e-06 ENSE00001190638_020 ENSE00001190638 020 17 78857162 78857331 + 57 66 47 G A 78857255 3367 94 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCATGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883454 80883455 80883455 exon -30 0.560606060606061 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCATGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 1405 170 0.997239900209591 1 0.998619950104795 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.150112826955876 0.00770736406311656 0.995590003681131 0.919709854595299 NA 0.0789100955094965 NA FALSE NA 1 7.068 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 1 NA CGT G,A 2.471e-05 17:80883455 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 missense_variant 2.492369 0.99071 0.98221 0.706548 0.977587623096121 0 0.999999983261949 TRUE 2.8425e-05 ENSE00001190638_021 ENSE00001190638 021 17 78857162 78857331 + 57 66 47 C T 78857260 3368 99 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATTGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883459 80883460 80883460 exon -25 0.636363636363636 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATTGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 515 324 0.990972811530433 0.96602534406929 0.978499077799862 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.143845738276719 -0.0262672918675935 0.995590003681131 0.919709854595299 NA 0.0587892232045629 NA FALSE NA 0.017 -1.086 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 COSM1470941 1 NA TCG C,T 2.471e-05 17:80883460 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 synonymous_variant 1.185776 0.90111 0.05233 0.706548 0.538017185248887 0 0.999999983261949 TRUE 2.03042e-05 ENSE00001190638_022 ENSE00001190638 022 17 78857162 78857331 + 57 66 47 C T 78857277 3369 116 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACATGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883476 80883477 80883477 exon -8 0.893939393939394 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACATGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 363 1430 0.99026148799722 0.997866081841975 0.994063784919597 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.143134414743506 0.00557344590509123 0.995590003681131 0.919709854595299 NA 0.0743539303242984 NA FALSE NA 1 7.035 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 rs548409186 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACG C,T 3.295e-05 17:80883477 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 missense_variant 4.843346 0.99045 0.98174 0.706548 0.998379055440833 0 0.999999983261949 TRUE 4.87318e-05 ENSE00001190638_023 ENSE00001190638 023 17 78857162 78857331 + 57 66 47 G A 78857278 3370 117 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACAGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883477 80883478 80883478 exon -7 0.909090909090909 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACAGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 375 76 1 1 1 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.152872926746286 0.00770736406311656 0.995590003681131 0.919709854595299 NA 0.0802901454047012 NA FALSE NA 0.003 -1.198 rs34848699 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/30 rs34848699 1 A:0.0032 A:0.0008 A:0.0072 NA A:0 A:0.0099 A:0 A:0.0011 A:0.0087 CGG G,A 0.00584 17:80883478 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 synonymous_variant 0.86256 0.12286 0.01827 0.706548 0.499461052204097 0 0.999999983261949 TRUE 0.00568574 ENSE00001190638_024 ENSE00001190638 024 17 78857162 78857331 + 57 66 47 C A 78857292 3371 131 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCACCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883491 80883492 80883492 downstr_intron 8 1.17391304347826 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCACCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 151 126 0.994418433855937 0.997234482862908 0.995826458359423 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.147291360602223 0.00494184692602495 0.995590003681131 0.919709854595299 NA 0.076116603764124 NA FALSE NA 0 -0.863 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RPTOR HGNC 30287 ENST00000575542 11/29 1 NA CCC C,A 8.237e-06 17:80883492 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 splice_region_variant 0.414952 0.21316 0.09047 0.062308 0.356081910216105 0.0916741 0.999999983261949 TRUE 4.06379e-06 ENSE00001190638_025 ENSE00001190638 025 17 78857162 78857331 + 57 66 47 C T 78857299 3372 138 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCTACCCCCAGCCCCAGAGCTCACCCTTGGCATTG 80883361 80883531 80883498 80883499 80883499 downstr_intron 15 1.32608695652174 TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCTACCCCCAGCCCCAGAGCTCACCCTTGGCATTG TTGGGAATGAGAGTTTCCACTGAGGGGAGACGACCAGGACTGGTTTTTGTTTTCCAGGCTGAACACCGGACCATGACGGCTTTCATTCTCGCCGTGATCGTCAACAGCTATCACACGGGGCAGGTGAGCCCCCCAGCCACCCCCAGCCCCAGAGCTCACCCTTGGCATTG mutant NA NA NA NA NA 69 112 1 1 1 0.99504973612812 0.996130271234143 0.847127073253714 0.992292635936883 NA NA 0.152872926746286 0.00770736406311656 0.995590003681131 0.919709854595299 NA 0.0802901454047012 NA FALSE NA 0 -2.512 . intron_variant&non_coding_transcript_variant MODIFIER RPTOR HGNC 30287 ENST00000575542 11/29 1 NA CCA C,T 1.647e-05 17:80883499 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003564222 intron_variant 0.04978 0.18133 0.05951 0.062308 0.382442905662275 0.0531528 0.999999983261949 TRUE 8.12691e-06 ENSE00001190744_000 ENSE00001190744 000 1 41457387 41457556 + 50 81 39 NA NA NA NA NA CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 NA NA NA NA NA NA CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC natural NA NA NA NA NA 2208 2656 0.869648152307517 0.913022699655547 0.891335425981532 NA NA 0.869648152307517 0.913022699655547 NA NA 0 0 NA 0.891335425981532 NA 0 NA FALSE NA NA NA NA NA NA CTPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTPS1 NA NA NA ENSG00000171793 ENSE00003567544 NA NA NA NA NA NA NA 0.932192403965688 TRUE NA ENSE00001190744_002 ENSE00001190744 002 1 41457387 41457556 + 50 81 39 C G 41457403 1595 17 CTTCTGTCATTTTTTCGTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991730 40991731 40991731 upstr_intron -34 -0.66 CTTCTGTCATTTTTTCGTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 1995 78 0.999752197925776 1 0.999876098962888 NA NA 0.869648152307517 0.913022699655547 NA NA 0.130104045618259 0.0869773003444533 NA 0.891335425981532 NA 0.108540672981356 NA FALSE NA 0 -0.12 . intron_variant MODIFIER CTPS1 HGNC 2519 ENST00000543104 6/7 1 NA CCT C,G 8.236e-06 1:40991731 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 intron_variant 0.253562 0.30538 0.2536 0.156188 0.569116340422486 0.046323 0.932192403965688 TRUE NA ENSE00001190744_003 ENSE00001190744 003 1 41457387 41457556 + 50 81 39 T G 41457407 1596 21 CTTCTGTCATTTTTTCCTTCGGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991734 40991735 40991735 upstr_intron -30 -0.58 CTTCTGTCATTTTTTCCTTCGGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 854 1174 0.873604032473848 0.998560801748209 0.936082417111028 NA NA 0.869648152307517 0.913022699655547 NA NA 0.00395588016633097 0.0855381020926621 NA 0.891335425981532 NA 0.0447469911294965 NA FALSE NA 0 0.24 . intron_variant MODIFIER CTPS1 HGNC 2519 ENST00000543104 6/7 1 NA CTG T,G 8.236e-06 1:40991735 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 intron_variant 0.354608 0.26636 0.16149 0.156188 0.586592702331815 0.046323 0.932192403965688 TRUE 4.1363e-06 ENSE00001190744_004 ENSE00001190744 004 1 41457387 41457556 + 50 81 39 T C 41457409 1597 23 CTTCTGTCATTTTTTCCTTCTGCCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991736 40991737 40991737 upstr_intron -28 -0.54 CTTCTGTCATTTTTTCCTTCTGCCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 28 53 1 1 1 NA NA 0.869648152307517 0.913022699655547 NA NA 0.130351847692483 0.0869773003444533 NA 0.891335425981532 NA 0.108664574018468 NA FALSE NA 0 0.088 . intron_variant MODIFIER CTPS1 HGNC 2519 ENST00000543104 6/7 1 NA GTC T,C 8.236e-06 1:40991737 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 intron_variant 0.214927 0.21927 0.02659 0.156188 0.699728549776105 0.046323 0.932192403965688 TRUE 4.08113e-06 ENSE00001190744_005 ENSE00001190744 005 1 41457387 41457556 + 50 81 39 C T 41457410 1598 24 CTTCTGTCATTTTTTCCTTCTGTTTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991737 40991738 40991738 upstr_intron -27 -0.52 CTTCTGTCATTTTTTCCTTCTGTTTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 573 77 0.996438289094343 1 0.998219144547172 NA NA 0.869648152307517 0.913022699655547 NA NA 0.126790136786826 0.0869773003444533 NA 0.891335425981532 NA 0.10688371856564 NA FALSE NA 0 0.018 . intron_variant MODIFIER CTPS1 HGNC 2519 ENST00000543104 6/7 1 NA TCT C,T 0.0001318 1:40991738 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 intron_variant 0.209647 0.19507 0.14526 0.156188 0.463756995713989 0.046323 0.932192403965688 TRUE NA ENSE00001190744_007 ENSE00001190744 007 1 41457387 41457556 + 50 81 39 C G 41457425 1600 39 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTGTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991752 40991753 40991753 upstr_intron -12 -0.22 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTGTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 23 96 1 1 1 NA NA 0.869648152307517 0.913022699655547 NA NA 0.130351847692483 0.0869773003444533 NA 0.891335425981532 NA 0.108664574018468 NA FALSE NA 0 0.088 . intron_variant MODIFIER CTPS1 HGNC 2519 ENST00000543104 6/7 1 NA TCT C,G 2.471e-05 1:40991753 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 intron_variant -0.077838 0.25391 0.20709 0.295142 0.41314691291389 0.0806315 0.932192403965688 TRUE 2.84673e-05 ENSE00001190744_008 ENSE00001190744 008 1 41457387 41457556 + 50 81 39 A C 41457446 1601 60 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCCGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991773 40991774 40991774 exon 10 0.123456790123457 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCCGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 78 104 1 0.998476246039539 0.99923812301977 NA NA 0.869648152307517 0.913022699655547 NA NA 0.130351847692483 0.0854535463839926 NA 0.891335425981532 NA 0.107902697038238 NA FALSE NA 1 4.162 . synonymous_variant LOW CTPS1 HGNC 2519 ENST00000543104 7/8 1 NA CAG A,C 8.236e-06 1:40991774 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 synonymous_variant 0.346568 0.98226 0.91406 0.706548 0.639290214526141 0 0.932192403965688 TRUE 4.06263e-06 ENSE00001190744_010 ENSE00001190744 010 1 41457387 41457556 + 50 81 39 A G 41457455 1603 69 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAGATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991782 40991783 40991783 exon 19 0.234567901234568 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAGATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 147 85 1 1 1 NA NA 0.869648152307517 0.913022699655547 NA NA 0.130351847692483 0.0869773003444533 NA 0.891335425981532 NA 0.108664574018468 NA FALSE NA 1 6.997 . missense_variant MODERATE CTPS1 HGNC 2519 ENST00000543104 7/8 1 benign(0.01) NA AAA A,G 8.236e-06 1:40991783 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 missense_variant 2.173839 0.98484 0.98821 0.706548 0.960663781906962 0 0.932192403965688 TRUE 8.1246e-06 ENSE00001190744_011 ENSE00001190744 011 1 41457387 41457556 + 50 81 39 A G 41457472 1604 86 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCGGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991799 40991800 40991800 exon 36 0.444444444444444 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCGGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 35 609 1 1 1 NA NA 0.869648152307517 0.913022699655547 NA NA 0.130351847692483 0.0869773003444533 NA 0.891335425981532 NA 0.108664574018468 NA FALSE NA 0.005 -1.077 . synonymous_variant LOW CTPS1 HGNC 2519 ENST00000543104 7/8 1 NA CAG A,G 4.118e-05 1:40991800 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 synonymous_variant 0.956035 0.8873 0.26286 0.706548 0.827774386308598 0 0.932192403965688 TRUE 3.65601e-05 ENSE00001190744_014 ENSE00001190744 014 1 41457387 41457556 + 50 81 39 A G 41457534 1607 148 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCGTCTCTAATAAGTTGTTTTTTGC 40991714 40991884 40991861 40991862 40991862 downstr_intron 17 1.44736842105263 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCGTCTCTAATAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 212 1401 1 1 1 NA NA 0.869648152307517 0.913022699655547 NA NA 0.130351847692483 0.0869773003444533 NA 0.891335425981532 NA 0.108664574018468 NA FALSE NA 0 -0.498 . intron_variant MODIFIER CTPS1 HGNC 2519 ENST00000543104 7/7 1 NA CAT A,G 9.884e-05 1:40991862 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 intron_variant 2.046417 0.18314 0.027 0.099367 0.838727501663018 0.132075 0.932192403965688 TRUE 8.1357e-05 ENSE00001190744_015 ENSE00001190744 015 1 41457387 41457556 + 50 81 39 A T 41457541 1608 155 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTATTAAGTTGTTTTTTGC 40991714 40991884 40991868 40991869 40991869 downstr_intron 24 1.63157894736842 CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTATTAAGTTGTTTTTTGC CTTCTGTCATTTTTTCCTTCTGTCTAAGCCATCTTGTTCTCTACTGCTAGGTTGTATGCAGGTGCTCAAATCCACTTGACACATCAGTGAAGGAGAAAATATCAATGTTCTGCCATGTTGAGCCTGAACAAGTGAGTAGAAATTCCCATCTCTAATAAGTTGTTTTTTGC mutant NA NA NA NA NA 95 60 1 0.967550037935418 0.983775018967709 NA NA 0.869648152307517 0.913022699655547 NA NA 0.130351847692483 0.0545273382798717 NA 0.891335425981532 NA 0.0924395929861773 NA FALSE NA 0 -0.007 . intron_variant MODIFIER CTPS1 HGNC 2519 ENST00000543104 7/7 1 NA AAT A,T 8.236e-06 1:40991869 CTPS1 HGNC Symbol protein_coding 33230 ENSG00000171793 ENSE00003567544 intron_variant 0.028011 0.21076 0.10765 0.099367 0.77058272494898 0.046875 0.932192403965688 TRUE NA ENSE00001190777_000 ENSE00001190777 000 7 44882835 44883004 - 41 78 51 NA NA NA NA NA AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 NA NA NA NA NA NA AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC natural 45 65 0.985531178476912 0.997104867786758 0.991318023131835 7463 8885 0.80217901026942 0.980771331903917 0.891475171086669 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 0 0 0 0 0.991318023131835 0.891475171086669 0 0 0 FALSE FALSE NA NA NA NA NA H2AFV NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA H2AFV NA NA NA ENSG00000105968 ENSE00001190777 NA NA NA NA NA NA NA 0.412114349708015 FALSE NA ENSE00001190777_001 ENSE00001190777 001 7 44882835 44883004 - 41 78 51 G A 44882857 962 148 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTTATTACATTATTATTTTCTTTAC 44843235 44843405 44843257 44843258 44843258 downstr_intron 19 1.475 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTTATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 1249 1959 0.9910925737776 0.989847385346836 0.990469979562218 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.18891356350818 0.00907605344291851 0.991318023131835 0.891475171086669 NA 0.0989948084755493 NA FALSE NA 0 -0.674 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 rs371956322 1 NA A:0 A:0.0001 TGA G,A 4.942e-05 7:44843258 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 intron_variant -0.29688 0.0548 0.01648 0.322412 0.733147485450226 0.136928 0.412114349708015 FALSE 6.27347e-05 ENSE00001190777_002 ENSE00001190777 002 7 44882835 44883004 - 41 78 51 C A 44882859 963 146 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTTTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843259 44843260 44843260 downstr_intron 17 1.425 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTTTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 115 105 1 0.997421834141466 0.998710917070733 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.19782098973058 0.0166505022375493 0.991318023131835 0.891475171086669 NA 0.107235745984064 NA FALSE NA 0 -0.401 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA ACA C,A 8.236e-06 7:44843260 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 intron_variant 0.402879 0.14284 0.04069 0.322412 0.734562697001162 0.136928 0.412114349708015 FALSE 4.38727e-06 ENSE00001190777_005 ENSE00001190777 005 7 44882835 44883004 - 41 78 51 G A 44882866 966 139 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATTCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843266 44843267 44843267 downstr_intron 10 1.25 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATTCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 972 244 0.898067475572668 1 0.949033737786334 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.0958884653032473 0.0192286680960829 0.991318023131835 0.891475171086669 NA 0.0575585666996651 NA FALSE NA 0 -0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:44843267 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 intron_variant 1.264683 0.13274 0.04025 0.322412 0.77960434308207 0.167706 0.412114349708015 FALSE 3.44605e-05 ENSE00001190777_006 ENSE00001190777 006 7 44882835 44883004 - 41 78 51 G C 44882866 967 139 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATGCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843266 44843267 44843267 downstr_intron 10 1.25 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATGCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 257 3293 1 0.99287709176437 0.996438545882185 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.19782098973058 0.0121057598604531 0.991318023131835 0.891475171086669 NA 0.104963374795516 NA FALSE NA 0 -0.11 NA NA NA H2AFV NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA H2AFV NA NA NA ENSG00000105968 ENSE00001190777 intron_variant 0.888747 0.15471 0.06225 0.322412 0.741298376032531 0.167706 0.412114349708015 FALSE 4.30756e-06 ENSE00001190777_007 ENSE00001190777 007 7 44882835 44883004 - 41 78 51 T C 44882869 968 136 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGGATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843269 44843270 44843270 downstr_intron 7 1.175 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGGATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 454 331 1 0.998942844036745 0.999471422018373 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.19782098973058 0.0181715121328284 0.991318023131835 0.891475171086669 NA 0.107996250931704 NA FALSE NA 0 -0.953 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA TTC T,C 8.236e-06 7:44843270 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 splice_region_variant 0.582476 0.12563 0.00467 0.322412 0.707466996598226 0.140782 0.412114349708015 FALSE 4.25087e-06 ENSE00001190777_009 ENSE00001190777 009 7 44882835 44883004 - 41 78 51 C T 44882889 970 116 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAAAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843289 44843290 44843290 exon -14 0.833333333333333 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAAAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 1223 926 0.979006744550398 0.998965883764892 0.988986314157645 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.176827734280978 0.0181945518609747 0.991318023131835 0.891475171086669 NA 0.0975111430709762 NA FALSE NA 1 7.257 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA TCT C,T 3.295e-05 7:44843290 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 missense_variant 3.275413 0.98867 0.97714 0.732398 0.982598714509598 0 0.412114349708015 FALSE 1.641e-05 ENSE00001190777_010 ENSE00001190777 010 7 44882835 44883004 - 41 78 51 G A 44882899 971 106 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTTGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843299 44843300 44843300 exon -24 0.705128205128205 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTTGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 1407 502 0.999853663318904 0.988614203431965 0.994233933375434 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.197674653049484 0.00784287152804775 0.991318023131835 0.891475171086669 NA 0.102758762288766 NA FALSE NA 1 9.176 rs147999975 intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 rs147999975 1 NA A:0 A:0.0001 CGA G,A 1.647e-05 7:44843300 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 missense_variant 4.529541 0.98894 0.98649 0.732398 0.997581091074519 0 0.412114349708015 FALSE 4.08507e-06 ENSE00001190777_011 ENSE00001190777 011 7 44882835 44883004 - 41 78 51 C A 44882914 972 91 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGTCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843314 44843315 44843315 exon -39 0.512820512820513 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGTCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 804 452 1 0.991282186885258 0.995641093442629 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.19782098973058 0.0105108549813407 0.991318023131835 0.891475171086669 NA 0.10416592235596 NA FALSE NA 1 3.639 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA GCC C,A 8.236e-06 7:44843315 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 missense_variant 3.440173 0.98243 0.95204 0.732398 0.988429532589186 0 0.412114349708015 FALSE 8.13994e-06 ENSE00001190777_012 ENSE00001190777 012 7 44882835 44883004 - 41 78 51 G C 44882930 973 75 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGAGAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843330 44843331 44843331 exon 24 0.307692307692308 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGAGAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 1601 2128 0.997096802965472 0.999620895968024 0.998358849466748 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.194917792696052 0.018849564064107 0.991318023131835 0.891475171086669 NA 0.106883678380079 NA FALSE NA 1 6.169 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA TGT G,C 8.236e-06 7:44843331 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 missense_variant 3.457528 0.98941 0.98146 0.732398 0.991945198727992 0 0.412114349708015 FALSE NA ENSE00001190777_013 ENSE00001190777 013 7 44882835 44883004 - 41 78 51 A G 44882939 974 66 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCCGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843339 44843340 44843340 exon 15 0.192307692307692 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCCGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 755 478 1 1 1 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.19782098973058 0.0192286680960829 0.991318023131835 0.891475171086669 NA 0.108524828913331 NA FALSE NA 0.996 1.098 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA CAG A,G 1.647e-05 7:44843340 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 synonymous_variant 0.972485 0.95213 0.76012 0.732398 0.751506218322709 0 0.412114349708015 FALSE 8.18625e-06 ENSE00001190777_014 ENSE00001190777 014 7 44882835 44883004 - 41 78 51 G A 44882940 975 65 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGTTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843340 44843341 44843341 exon 14 0.179487179487179 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGTTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 429 2058 0.989516686476695 0.9972859557378 0.993401321107248 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.187337676207275 0.0165146238338834 0.991318023131835 0.891475171086669 NA 0.101926150020579 NA FALSE NA 1 9.176 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA AGC G,A 8.236e-06 7:44843341 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 missense_variant 5.155579 0.98894 0.98649 0.732398 0.997569889399551 0 0.412114349708015 FALSE 4.08567e-06 ENSE00001190777_015 ENSE00001190777 015 7 44882835 44883004 - 41 78 51 T A 44882942 976 63 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAATGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843342 44843343 44843343 exon 12 0.153846153846154 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAATGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 944 495 0.999563235923392 0.998045343090559 0.998804289506976 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.197384225653972 0.0172740111866418 0.991318023131835 0.891475171086669 NA 0.107329118420307 NA FALSE NA 0.992 0.591 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA CTT T,A 2.471e-05 7:44843343 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 missense_variant 4.241829 0.95702 0.85348 0.732398 0.995360203385866 0 0.412114349708015 FALSE 1.22792e-05 ENSE00001190777_016 ENSE00001190777 016 7 44882835 44883004 - 41 78 51 C G 44882953 977 52 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGCCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843353 44843354 44843354 exon 1 0.0128205128205128 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGCCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 321 216 0.964301062151556 0.988272233353395 0.976286647752476 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.162122051882136 0.00750090144947757 0.991318023131835 0.891475171086669 NA 0.0848114766658069 NA FALSE NA 1 7.215 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA GCC C,G 8.236e-06 7:44843354 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 missense_variant 4.708189 0.98926 0.99405 0.732398 0.986829310816459 0 0.412114349708015 FALSE 4.15825e-06 ENSE00001190777_017 ENSE00001190777 017 7 44882835 44883004 - 41 78 51 T C 44882959 978 46 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCGTTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843359 44843360 44843360 upstr_intron -6 -0.0980392156862745 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCGTTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 191 3009 0.999568276051763 0.998362908453469 0.998965592252616 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.197389265782342 0.0175915765495518 0.991318023131835 0.891475171086669 NA 0.107490421165947 NA FALSE NA 0.007 2.114 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 rs554408192 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATG T,C 8.236e-06 7:44843360 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 splice_region_variant 0.631469 0.36865 0.09409 0.106106 0.677880952546375 0.108709 0.412114349708015 FALSE 4.21028e-06 ENSE00001190777_018 ENSE00001190777 018 7 44882835 44883004 - 41 78 51 A C 44882969 979 36 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATGTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843369 44843370 44843370 upstr_intron -16 -0.294117647058824 AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATGTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 685 1449 0.990621513429512 0.894783027789274 0.942702270609393 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.188442503160091 -0.0859883041146428 0.991318023131835 0.891475171086669 NA 0.0512270995227243 NA FALSE NA 0.001 1.525 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA AAA A,C 1.647e-05 7:44843370 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 intron_variant -0.691317 0.10466 0.02213 0.106106 0.613679636273335 0.056905 0.412114349708015 FALSE 1.72144e-05 ENSE00001190777_019 ENSE00001190777 019 7 44882835 44883004 - 41 78 51 G T 44882978 980 27 AAGTAGTATTTTCAACTCTTTTCATTAAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843378 44843379 44843379 upstr_intron -25 -0.470588235294118 AAGTAGTATTTTCAACTCTTTTCATTAAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 1079 1595 0.999273071815246 0.990815861913422 0.995044466864334 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.197094061545826 0.0100445300095052 0.991318023131835 0.891475171086669 NA 0.103569295777666 NA FALSE NA 0 -1.201 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA TGA G,T 8.237e-06 7:44843379 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 intron_variant -0.715538 0.05447 0.00465 0.106106 0.32271293548157 0.056905 0.412114349708015 FALSE 4.36983e-06 ENSE00001190777_020 ENSE00001190777 020 7 44882835 44883004 - 41 78 51 G C 44882987 981 18 AAGTAGTATTTTCAACTGTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843387 44843388 44843388 upstr_intron -34 -0.647058823529412 AAGTAGTATTTTCAACTGTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 1130 782 1 0.989366934708914 0.994683467354457 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.19782098973058 0.00859560280499672 0.991318023131835 0.891475171086669 NA 0.103208296267788 NA FALSE NA 0.508 2.244 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 1 NA AGA G,C 8.239e-06 7:44843388 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 intron_variant -0.359416 0.11887 0.10466 0.106106 0.480908926908486 0.056905 0.412114349708015 FALSE 1.33909e-05 ENSE00001190777_021 ENSE00001190777 021 7 44882835 44883004 - 41 78 51 T C 44882991 982 14 AAGTAGTATTTTCGACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 44843391 44843392 44843392 upstr_intron -38 -0.725490196078431 AAGTAGTATTTTCGACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC mutant NA NA NA NA NA 447 583 0.964079481724727 0.988883092732153 0.97648128722844 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 NA NA 0.161900471455307 0.00811176082823573 0.991318023131835 0.891475171086669 NA 0.0850061161417712 NA FALSE NA 0.11 0.39 . intron_variant MODIFIER H2AFV HGNC 20664 ENST00000521529 1/2 rs576084384 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTG T,C 1.648e-05 7:44843392 H2AFV HGNC Symbol protein_coding 21292 ENSG00000105968 ENSE00001190777 intron_variant -0.095144 0.17326 0.01485 0.106106 0.735061677257887 0.0978937 0.412114349708015 FALSE 8.88486e-06 ENSE00001190777_BRK ENSE00001190777 BRK 7 44882835 44883004 - 41 78 51 A,G; T,T NA NA NA AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTTTGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGCCAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC 44843235 44843405 NA NA NA NA NA NA AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTTTGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGCCAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC AAGTAGTATTTTCAACTCTTTTCATTCAAAAAAATTTTTTTTTGCATTTAGGCTGGAGGCAAAGCTGGAAAGGACAGTGGGAAGGCCAAGGCTAAGGCAGTATCTCGCTCACAGAGAGCTGGGCTACAGGTAATGAATCCATGCTGTCATTACATTATTATTTTCTTTAC control 143 230 0 0 0 NA NA NA NA NA 0.985531178476912 0.997104867786758 0.80217901026942 0.980771331903917 -0.985531178476912 -0.997104867786758 NA NA 0.991318023131835 0.891475171086669 -0.991318023131835 NA NA NA TRUE NA NA NA NA NA H2AFV NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA H2AFV NA NA NA ENSG00000105968 ENSE00001190777 NA NA NA NA NA NA NA 0.412114349708015 FALSE NA ENSE00001191040_000 ENSE00001191040 000 11 65481192 65481361 + 53 75 42 NA NA NA NA NA TTCCTTTTCACCCAGTTCCCTTCTGCTGCTCCCCAGACCCACCTCATCAGTGCCCAAACAATTCGATTTTCGCTTCCGTCCTGGCTGGGCTGCCACTGCCCTACGGGCGGCTCCATTCTGCCGAGATAGTAGGAAAAGAAGGGATGGCTGTGAAATGAGCCTGAAAAAAG 65713720 65713890 NA NA NA NA NA NA CTTTTTTCAGGCTCATTTCACAGCCATCCCTTCTTTTCCTACTATCTCGGCAGAATGGAGCCGCCCGTAGGGCAGTGGCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAGGTGGGTCTGGGGAGCAGCAGAAGGGAACTGGGTGAAAAGGAA CTTTTTTCAGGCTCATTTCACAGCCATCCCTTCTTTTCCTACTATCTCGGCAGAATGGAGCCGCCCGTAGGGCAGTGGCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAGGTGGGTCTGGGGAGCAGCAGAAGGGAACTGGGTGAAAAGGAA natural NA NA NA NA NA 1194 1723 0.733631631266127 0.741350676467893 0.73749115386701 NA NA 0.733631631266127 0.741350676467893 NA NA 0 0 NA 0.73749115386701 NA 0 NA FALSE NA NA NA NA NA NA RNASEH2C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KAT5 NA NA NA ENSG00000172977 ENSE00003645581 NA NA NA NA NA NA NA 0.471177718664719 FALSE NA ENSE00001191040_010 ENSE00001191040 010 11 65481192 65481361 + 53 75 42 G A 65481241 1767 50 TTCCTTTTCACCCAGTTCCCTTCTGCTGCTCCCCAGACCCACCTCATCAGTGCCCAAACAATTCGATTTTCGCTTCCGTCCTGGCTGGGCTGCCACTGCCCTACGGGCGGCTCCATTCTGTCGAGATAGTAGGAAAAGAAGGGATGGCTGTGAAATGAGCCTGAAAAAAG 65713720 65713890 65713769 65713770 65713770 upstr_intron -4 -0.0566037735849057 CTTTTTTCAGGCTCATTTCACAGCCATCCCTTCTTTTCCTACTATCTCGACAGAATGGAGCCGCCCGTAGGGCAGTGGCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAGGTGGGTCTGGGGAGCAGCAGAAGGGAACTGGGTGAAAAGGAA CTTTTTTCAGGCTCATTTCACAGCCATCCCTTCTTTTCCTACTATCTCGGCAGAATGGAGCCGCCCGTAGGGCAGTGGCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAGGTGGGTCTGGGGAGCAGCAGAAGGGAACTGGGTGAAAAGGAA mutant NA NA NA NA NA 123 15 0.990998241367067 0.978307937152736 0.984653089259902 NA NA 0.733631631266127 0.741350676467893 NA NA 0.25736661010094 0.236957260684843 NA 0.73749115386701 NA 0.247161935392892 NA FALSE NA 0 -1.3 . downstream_gene_variant MODIFIER RNASEH2C HGNC 24116 ENST00000531596 rs370475272 1 NA A:0.0002 A:0 GGC G,A 8.239e-06 11:65713770 KAT5 HGNC Symbol protein_coding 7608 ENSG00000172977 ENSE00003645581 splice_region_variant -0.396531 0.18158 0.05967 0.139865 0.846435031882616 0.328348 0.471177718664719 FALSE 4.15711e-06 ENSE00001191040_018 ENSE00001191040 018 11 65481192 65481361 + 53 75 42 G C 65481269 1775 78 TTCCTTTTCACCCAGTTCCCTTCTGCTGCTCCCCAGACCCACCTCATCAGTGCCCAAACAATTCGATTTTCGCTTCCGTCCTGGCTGGGCTGGCACTGCCCTACGGGCGGCTCCATTCTGCCGAGATAGTAGGAAAAGAAGGGATGGCTGTGAAATGAGCCTGAAAAAAG 65713720 65713890 65713797 65713798 65713798 exon 25 0.333333333333333 CTTTTTTCAGGCTCATTTCACAGCCATCCCTTCTTTTCCTACTATCTCGGCAGAATGGAGCCGCCCGTAGGGCAGTGCCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAGGTGGGTCTGGGGAGCAGCAGAAGGGAACTGGGTGAAAAGGAA CTTTTTTCAGGCTCATTTCACAGCCATCCCTTCTTTTCCTACTATCTCGGCAGAATGGAGCCGCCCGTAGGGCAGTGGCAGCCCAGCCAGGACGGAAGCGAAAATCGAATTGTTTGGGCACTGATGAGGTGGGTCTGGGGAGCAGCAGAAGGGAACTGGGTGAAAAGGAA mutant NA NA NA NA NA 96 91 1 1 1 NA NA 0.733631631266127 0.741350676467893 NA NA 0.266368368733873 0.258649323532107 NA 0.73749115386701 NA 0.26250884613299 NA FALSE NA 1 4.808 . downstream_gene_variant MODIFIER RNASEH2C HGNC 24116 ENST00000531596 1 NA GGC G,C 8.241e-06 11:65713798 KAT5 HGNC Symbol protein_coding 7608 ENSG00000172977 ENSE00003645581 missense_variant 1.551913 0.93709 0.78626 0.722319 0.988071859764759 0 0.471177718664719 FALSE 4.2864e-06 ENSE00001191680_000 ENSE00001191680 000 X 74332685 74332854 - 36 87 47 NA NA NA NA NA ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 NA NA NA NA NA NA GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT natural 421 458 0.881799018798268 0.869293998359588 0.875546508578928 3955 3975 0.954951409665919 0.946517980858806 0.950734695262363 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 0 0 0 0 0.875546508578928 0.950734695262363 0 0 0 FALSE FALSE NA NA NA NA NA ABCB7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCB7 NA NA NA ENSG00000131269 ENSE00001191680 NA NA NA NA NA NA NA 0.995047822845297 TRUE NA ENSE00001191680_001 ENSE00001191680 001 X 74332685 74332854 - 36 87 47 G C 74332712 717 143 ATCAAGAATTTCCAGTTACTTGTTACTCGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112876 75112877 75112877 downstr_intron 9 1.25714285714286 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCGAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 227 344 1 0.984476058512694 0.992238029256347 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0450485903340806 0.0379580776538886 0.875546508578928 0.950734695262363 NA 0.0415033339939846 NA FALSE NA 0 -1.158 . intron_variant MODIFIER ABCB7 HGNC 48 ENST00000529949 2/14 rs377616036 1 NA C:0.0008 C:0 TGG G,C 1.647e-05 X:75112877 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 intron_variant -0.264178 0.13387 0.00539 0 0.567592389146302 0.127948 0.995047822845297 TRUE 1.12142e-05 ENSE00001191680_002 ENSE00001191680 002 X 74332685 74332854 - 36 87 47 T C 74332729 718 126 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTCTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112893 75112894 75112894 exon -9 0.908045977011494 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAGAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 161 980 0.996628905026631 1 0.998314452513315 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0416774953607112 0.0534820191411941 0.875546508578928 0.950734695262363 NA 0.0475797572509526 NA FALSE NA 1 4.518 . missense_variant MODERATE ABCB7 HGNC 48 ENST00000529949 2/15 1 tolerated(0.31) benign(0.005) NA TTT T,C 8.237e-06 X:75112894 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 missense_variant 2.538462 0.97797 0.85484 0 0.99007145374092 0 0.995047822845297 TRUE 5.60469e-06 ENSE00001191680_003 ENSE00001191680 003 X 74332685 74332854 - 36 87 47 T C 74332730 719 125 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTCGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112894 75112895 75112895 exon -10 0.896551724137931 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCGAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 305 123 1 1 1 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0450485903340806 0.0534820191411941 0.875546508578928 0.950734695262363 NA 0.0492653047376373 NA FALSE NA 0.996 -0.02 . synonymous_variant LOW ABCB7 HGNC 48 ENST00000529949 2/15 1 NA TTG T,C 8.237e-06 X:75112895 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 synonymous_variant 0.325144 0.94044 0.42257 0 0.732356690712213 0 0.995047822845297 TRUE 5.60563e-06 ENSE00001191680_004 ENSE00001191680 004 X 74332685 74332854 - 36 87 47 G A 74332742 720 113 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGAAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112906 75112907 75112907 exon -22 0.758620689655172 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTTCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 123 1396 0.999664938747622 0.987224915385625 0.993444927066623 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0447135290817022 0.0407069345268186 0.875546508578928 0.950734695262363 NA 0.0427102318042604 NA FALSE NA 0.998 0.037 rs140031135 synonymous_variant LOW ABCB7 HGNC 48 ENST00000529949 2/15 rs140031135 1 A:0.0008 A:0.0014 NA A:0.001 A:0.007 A:0.044 A:0.0018 A:0.0091 GGA G,A 0.012 X:75112907 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 synonymous_variant 0.794102 0.94612 0.51768 0 0.752486999795042 0 0.995047822845297 TRUE 0.0104654 ENSE00001191680_005 ENSE00001191680 005 X 74332685 74332854 - 36 87 47 T C 74332751 721 104 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCCCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112915 75112916 75112916 exon -31 0.655172413793103 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGGGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 27 1196 0.0184641170946658 0 0.00923205854733291 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA -0.936487292571254 -0.946517980858806 0.875546508578928 0.950734695262363 NA -0.94150263671503 NA TRUE NA 1 1.06 . synonymous_variant LOW ABCB7 HGNC 48 ENST00000529949 2/15 1 NA CTC T,C 8.237e-06 X:75112916 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 synonymous_variant 0.11081 0.96138 0.6249 0 0.751257947072172 0 0.995047822845297 TRUE 1.121e-05 ENSE00001191680_006 ENSE00001191680 006 X 74332685 74332854 - 36 87 47 T C 74332784 722 71 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCCATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112948 75112949 75112949 exon 24 0.275862068965517 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATGGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 382 1258 0.992586543455933 0.99945360176401 0.996020072609972 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0376351337900139 0.052935620905204 0.875546508578928 0.950734695262363 NA 0.045285377347609 NA FALSE NA 1 1.484 . missense_variant MODERATE ABCB7 HGNC 48 ENST00000529949 2/15 1 tolerated(0.16) benign(0.004) NA CTA T,C 8.237e-06 X:75112949 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 missense_variant 1.918875 0.97806 0.73806 0 0.968151178263814 0 0.995047822845297 TRUE 5.60978e-06 ENSE00001191680_007 ENSE00001191680 007 X 74332685 74332854 - 36 87 47 T C 74332790 723 65 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGCGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112954 75112955 75112955 exon 18 0.206896551724138 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCGCTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 879 955 0.97180869898882 0.996455938065288 0.984132318527054 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.016857289322901 0.0499379572064824 0.875546508578928 0.950734695262363 NA 0.0333976232646917 NA FALSE NA 0.81 -0.228 . synonymous_variant LOW ABCB7 HGNC 48 ENST00000529949 2/15 1 NA GTG T,C 2.471e-05 X:75112955 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 synonymous_variant 0.29584 0.77574 0.34961 0 0.737044002767935 0 0.995047822845297 TRUE 1.68355e-05 ENSE00001191680_009 ENSE00001191680 009 X 74332685 74332854 - 36 87 47 G A 74332804 725 51 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAAAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112968 75112969 75112969 exon 4 0.0459770114942529 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTTTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 862 108 0.960371465909924 0.905579548774621 0.932975507342273 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.00542005624400477 -0.0409384320841849 0.875546508578928 0.950734695262363 NA -0.0177591879200901 NA FALSE NA 0.338 0.187 . missense_variant MODERATE ABCB7 HGNC 48 ENST00000529949 2/15 1 tolerated(0.18) benign(0.008) NA AGA G,A 5.766e-05 X:75112969 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 missense_variant 2.211537 0.21389 0.06384 0 0.991188588506482 0 0.995047822845297 TRUE 3.93157e-05 ENSE00001191680_010 ENSE00001191680 010 X 74332685 74332854 - 36 87 47 A G 74332805 726 50 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGGGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112969 75112970 75112970 exon 3 0.0344827586206897 GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCCCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 1604 181 0.837680238932078 0.8 0.818840119466039 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA -0.117271170733842 -0.146517980858806 0.875546508578928 0.950734695262363 NA -0.131894575796324 NA FALSE NA 0.321 1.409 . splice_region_variant&synonymous_variant LOW ABCB7 HGNC 48 ENST00000529949 2/15 1 NA GAG A,G 0.0001153 X:75112970 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 splice_region_variant 0.728318 0.24721 0.06384 0 0.770800364039729 0 0.995047822845297 TRUE 0.000101081 ENSE00001191680_011 ENSE00001191680 011 X 74332685 74332854 - 36 87 47 C T 74332824 727 31 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATATCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112988 75112989 75112989 upstr_intron -17 -0.340425531914894 GAAATTCTGTAATAGCTAACGGACTGCTTGATATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 41 138 1 0.998327998473656 0.999163999236828 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0450485903340806 0.0518100176148498 0.875546508578928 0.950734695262363 NA 0.0484293039744652 NA FALSE NA 0.042 -0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:75112989 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 intron_variant 0.152177 0.25408 0.03478 0 0.624448470636732 0.160219 0.995047822845297 TRUE 0.000191394 ENSE00001191680_012 ENSE00001191680 012 X 74332685 74332854 - 36 87 47 C A 74332824 728 31 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATAACAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112988 75112989 75112989 upstr_intron -17 -0.340425531914894 GAAATTCTGTAATAGCTAACGGACTGCTTGTTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 185 783 0.999777337044055 0.999902733377075 0.999840035210565 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0448259273781352 0.0533847525182696 0.875546508578928 0.950734695262363 NA 0.0491053399482024 NA FALSE NA 0.042 -0.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCB7 NA NA NA ENSG00000131269 ENSE00001191680 intron_variant 0.118183 0.25222 0.03128 0 0.607165480047059 0.160219 0.995047822845297 TRUE NA ENSE00001191680_013 ENSE00001191680 013 X 74332685 74332854 - 36 87 47 C T 74332825 729 30 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACTAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112989 75112990 75112990 upstr_intron -18 -0.361702127659574 GAAATTCTGTAATAGCTAACGGACTGCTTAGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 588 288 0.0375711529993189 0 0.0187855764996594 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA -0.917380256666601 -0.946517980858806 0.875546508578928 0.950734695262363 NA -0.931949118762703 NA TRUE NA 0.092 1.541 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:75112990 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 intron_variant 0.340602 0.34821 0.19556 0 0.586179659153347 0.701125 0.995047822845297 TRUE 3.37777e-05 ENSE00001191680_014 ENSE00001191680 014 X 74332685 74332854 - 36 87 47 C G 74332825 730 30 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACGAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112989 75112990 75112990 upstr_intron -18 -0.361702127659574 GAAATTCTGTAATAGCTAACGGACTGCTTCGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 639 100 1 1 1 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0450485903340806 0.0534820191411941 0.875546508578928 0.950734695262363 NA 0.0492653047376373 NA FALSE NA 0.092 1.541 NA NA NA ABCB7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCB7 NA NA NA ENSG00000131269 ENSE00001191680 intron_variant 0.270024 0.35072 0.10725 0 0.536246393995329 0.701125 0.995047822845297 TRUE 5.62962e-06 ENSE00001191680_015 ENSE00001191680 015 X 74332685 74332854 - 36 87 47 A G 74332826 731 29 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCGAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 75112990 75112991 75112991 upstr_intron -19 -0.382978723404255 GAAATTCTGTAATAGCTAACGGACTGCTCGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 1781 1581 0.804028929402739 0.800251262017542 0.80214009571014 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA -0.150922480263181 -0.146266718841264 0.875546508578928 0.950734695262363 NA -0.148594599552222 NA FALSE NA 0.085 0.899 . intron_variant MODIFIER ABCB7 HGNC 48 ENST00000529949 1/14 1 NA CAA A,G 9.884e-05 X:75112991 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 intron_variant 0.110943 0.26909 0.09375 0 0.576453678142849 0.160219 0.995047822845297 TRUE 3.37745e-05 ENSE00001191680_016 ENSE00001191680 016 X 74332685 74332854 - 36 87 47 C T 74332834 732 21 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCTGTTAGCTATTACAGAATTTC 75112849 75113019 75112998 75112999 75112999 upstr_intron -27 -0.553191489361702 GAAATTCTGTAATAGCTAACAGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 1027 93 0.96006622925442 0.95783971322935 0.958952971241885 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.00511481958850035 0.0113217323705438 0.875546508578928 0.950734695262363 NA 0.00821827597952207 NA FALSE NA 0 -0.624 rs146592667 intron_variant MODIFIER ABCB7 HGNC 48 ENST00000529949 1/14 rs146592667 1 T:0 T:0 NA T:0.002 T:0.0109 T:0.001 T:0.0013 T:0.0103 CCG C,T 0.007273 X:75112999 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 intron_variant 0.142967 0.17141 0.01309 0 0.5929983746563 0.0832456 0.995047822845297 TRUE 0.00782519 ENSE00001191680_017 ENSE00001191680 017 X 74332685 74332854 - 36 87 47 G A 74332835 733 20 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCATTAGCTATTACAGAATTTC 75112849 75113019 75112999 75113000 75113000 upstr_intron -28 -0.574468085106383 GAAATTCTGTAATAGCTAATGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 325 223 0.99747871798466 1 0.99873935899233 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0425273083187409 0.0534820191411941 0.875546508578928 0.950734695262363 NA 0.0480046637299675 NA FALSE NA 0.041 0.314 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:75113000 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 intron_variant -0.240634 0.12066 0.00266 0 0.755755383764669 0.0832456 0.995047822845297 TRUE 4.51559e-05 ENSE00001191680_018 ENSE00001191680 018 X 74332685 74332854 - 36 87 47 G T 74332835 734 20 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCTTTAGCTATTACAGAATTTC 75112849 75113019 75112999 75113000 75113000 upstr_intron -28 -0.574468085106383 GAAATTCTGTAATAGCTAAAGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 254 27 0.00150918491276905 0.0138496886005699 0.00767943675666946 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA -0.95344222475315 -0.932668292258236 0.875546508578928 0.950734695262363 NA -0.943055258505693 NA TRUE NA 0.041 0.314 NA NA NA ABCB7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCB7 NA NA NA ENSG00000131269 ENSE00001191680 intron_variant -0.412299 0.19299 0.00358 0 0.687763998784061 0.0832456 0.995047822845297 TRUE 5.64449e-06 ENSE00001191680_019 ENSE00001191680 019 X 74332685 74332854 - 36 87 47 C T 74332840 735 15 ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTACCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCCTAATTGAAGATGATACCAAGCAGTCCGTTAGTTATTACAGAATTTC 75112849 75113019 75113004 75113005 75113005 upstr_intron -33 -0.680851063829787 GAAATTCTGTAATAACTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT mutant NA NA NA NA NA 443 92 0.997938154907622 0.994434580711196 0.996186367809409 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 NA NA 0.0429867452417031 0.0479165998523897 0.875546508578928 0.950734695262363 NA 0.0454516725470464 NA FALSE NA 0 -0.332 . intron_variant MODIFIER ABCB7 HGNC 48 ENST00000529949 1/14 1 NA GCT C,T 8.237e-06 X:75113005 ABCB7 HGNC Symbol protein_coding 105178 ENSG00000131269 ENSE00001191680 intron_variant 0.243372 0.1675 0.00581 0 0.649747838873483 0.130455 0.995047822845297 TRUE 5.65266e-06 ENSE00001191680_BRK ENSE00001191680 BRK X 74332685 74332854 - 36 87 47 A,G; T,T NA NA NA ATCAAGAATTTCCAGTTACTTGTTACTGGCTCTTGGCCCTTCTTTTGGGTCTGTGTGGAGTCCTCCTCCTGCATGACCATGCCAACATGTCCTCTTTTCTATCAGTGGCCATACCTGGAGAGCAAAATTGAAGATGATACCAAGCAGTCCGTTAGCTATTACAGAATTTC 75112849 75113019 NA NA NA NA NA NA GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTTTGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGCCAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT GAAATTCTGTAATAGCTAACGGACTGCTTGGTATCATCTTCAATTAGGCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCATGCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGGGTAAGAGCCAGTAACAAGTAACTGGAAATTCTTGAT control 242 90 0 0 0 1788 573 0.303330828275106 0.344961121964643 0.324145975119874 0.881799018798268 0.869293998359588 0.954951409665919 0.946517980858806 -0.881799018798268 -0.869293998359588 -0.651620581390814 -0.601556858894163 0.875546508578928 0.950734695262363 -0.875546508578928 -0.626588720142488 0.24895778843644 TRUE TRUE NA NA NA NA NA ABCB7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCB7 NA NA NA ENSG00000131269 ENSE00001191680 NA NA NA NA NA NA NA 0.995047822845297 TRUE NA ENSE00001192074_000 ENSE00001192074 000 1 40542470 40542639 - 44 72 54 NA NA NA NA NA GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG 40076797 40076967 NA NA NA NA NA NA GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG natural 16 27 1 0.994522614257385 0.997261307128693 744 587 0.973857233511835 0.781676920137646 0.87776707682474 1 0.994522614257385 0.973857233511835 0.781676920137646 0 0 0 0 0.997261307128693 0.87776707682474 0 0 0 FALSE FALSE NA NA NA NA NA CAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPT1 NA NA NA ENSG00000131238 ENSE00003644974 NA NA NA NA NA NA NA 3.75207213169725e-05 FALSE NA ENSE00001192074_002 ENSE00001192074 002 1 40542470 40542639 - 44 72 54 T C 40542495 1428 145 GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTGTCTTGGGAGGTTGGTGTTTTTTCAG 40076797 40076967 40076822 40076823 40076823 downstr_intron 19 1.44186046511628 GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTGTCTTGGGAGGTTGGTGTTTTTTCAG GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG mutant NA NA NA NA NA 1146 243 0.999062655640203 0.999843234175836 0.99945294490802 1 0.994522614257385 0.973857233511835 0.781676920137646 NA NA 0.025205422128368 0.218166314038191 0.997261307128693 0.87776707682474 NA 0.121685868083279 NA FALSE NA 0.001 0.134 . downstream_gene_variant MODIFIER CAP1 HGNC 20040 ENST00000372805 1 NA ATA T,C 8.236e-06 1:40076823 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003644974 missense_variant 0.046952 0.0678 0.00503 0.256867 0.693579256357525 0.108773 3.75207213169725e-05 FALSE 2.03103e-05 ENSE00001192074_007 ENSE00001192074 007 1 40542470 40542639 - 44 72 54 T G 40542550 1433 90 GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGACACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG 40076797 40076967 40076877 40076878 40076878 exon 36 0.5 GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGACACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG mutant NA NA NA NA NA 113 14 0.990367900589502 1 0.995183950294751 1 0.994522614257385 0.973857233511835 0.781676920137646 NA NA 0.0165106670776675 0.218323079862354 0.997261307128693 0.87776707682474 NA 0.117416873470011 NA FALSE NA 0.991 0.301 rs146002450 downstream_gene_variant MODIFIER CAP1 HGNC 20040 ENST00000372805 rs146002450 1 NA G:0 G:0.0001 TTT T,G 2.471e-05 1:40076878 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003644974 missense_variant 1.854508 0.83311 0.8351 0.722319 0.985438526010803 0 3.75207213169725e-05 FALSE 1.62481e-05 ENSE00001192074_008 ENSE00001192074 008 1 40542470 40542639 - 44 72 54 T C 40542572 1434 68 GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTGCAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG 40076797 40076967 40076899 40076900 40076900 exon 14 0.194444444444444 GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTGCAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG mutant NA NA NA NA NA 545 60 1 1 1 1 0.994522614257385 0.973857233511835 0.781676920137646 NA NA 0.0261427664881652 0.218323079862354 0.997261307128693 0.87776707682474 NA 0.12223292317526 NA FALSE NA 1 5.081 . downstream_gene_variant MODIFIER CAP1 HGNC 20040 ENST00000372805 1 NA GTA T,C 8.236e-06 1:40076900 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003644974 missense_variant 4.614506 0.9057 0.93594 0.722319 0.995303778950248 0 3.75207213169725e-05 FALSE 8.12546e-06 ENSE00001192074_010 ENSE00001192074 010 1 40542470 40542639 - 44 72 54 T A 40542587 1436 53 GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCTGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG 40076797 40076967 40076914 40076915 40076915 upstr_intron -2 -0.0185185185185185 GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCTGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG mutant 134 60 0 0 0 NA NA NA NA NA 1 0.994522614257385 0.973857233511835 0.781676920137646 -1 -0.994522614257385 NA NA 0.997261307128693 0.87776707682474 -0.997261307128693 NA NA NA TRUE 1 7.949 . downstream_gene_variant MODIFIER CAP1 HGNC 20040 ENST00000372805 rs386833664&CS982326 1 NA CTG T,A 8.236e-06 1:40076915 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003644974 splice_acceptor_variant 4.582061 0.93546 0.97687 0.295142 0.992184227902555 0.981641 3.75207213169725e-05 FALSE 4.06276e-06 ENSE00001192074_013 ENSE00001192074 013 1 40542470 40542639 - 44 72 54 A G 40542616 1439 24 GGCAGTATGTGCTGTGTGTCATACCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG 40076797 40076967 40076943 40076944 40076944 upstr_intron -31 -0.555555555555556 GGCAGTATGTGCTGTGTGTCATACCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG GGCAGTATGTGCTGTGTGTCATATCTGAGCTTCTTTCCTTTGCTTCTTCTGCAGTGGTTTGGATTTTACAGAAGTGGCCAAGCCAAGGAAACCATTCCCTTACAGGAGACCTCCCTGTACACACAGGTAACTGGCAGGGAGTCTATCTTGGGAGGTTGGTGTTTTTTCAG mutant 33 47 0.98848722254015 0.962674073304221 0.975580647922186 41 219 1 1 1 1 0.994522614257385 0.973857233511835 0.781676920137646 -0.0115127774598497 -0.0318485409531644 0.0261427664881652 0.218323079862354 0.997261307128693 0.87776707682474 -0.021680659206507 0.12223292317526 0.143913582381767 FALSE FALSE 0.371 0.956 . downstream_gene_variant MODIFIER CAP1 HGNC 20040 ENST00000372805 1 NA GAT A,G 8.236e-06 1:40076944 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003644974 intron_variant -0.007977 0.14761 0.23839 0.099367 0.571425923616249 0.113404 3.75207213169725e-05 FALSE NA ENSE00001192093_000 ENSE00001192093 000 12 53186463 53186632 - 32 96 42 NA NA NA NA NA GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG 52792678 52792848 NA NA NA NA NA NA GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG natural NA NA NA NA NA 1681 1548 0.96107346308866 0.991945931196939 0.976509697142799 NA NA 0.96107346308866 0.991945931196939 NA NA 0 0 NA 0.976509697142799 NA 0 NA FALSE NA NA NA NA NA NA KRT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT3 NA NA NA ENSG00000186442 ENSE00001192093 NA NA NA NA NA NA NA 1.92686672080473e-06 FALSE NA ENSE00001192093_001 ENSE00001192093 001 12 53186463 53186632 - 32 96 42 T C 53186479 1802 154 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTGCTAAGAAGGGACAGAG 52792678 52792848 52792694 52792695 52792695 downstr_intron 16 1.51612903225806 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTGCTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 25 556 1 0.956328512202352 0.978164256101176 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 -0.0356174189945865 NA 0.976509697142799 NA 0.00165455895837685 NA FALSE NA 0 0.011 . intron_variant MODIFIER KRT3 HGNC 6440 ENST00000309505 4/8 rs376517652 1 NA C:0.0002 C:0 GTA T,C 1.652e-05 12:52792695 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 intron_variant 1.21234 0.10223 0.01692 0.06567 0.624873999655747 0.0943699 1.92686672080473e-06 FALSE 4.0621e-06 ENSE00001192093_002 ENSE00001192093 002 12 53186463 53186632 - 32 96 42 G T 53186481 1803 152 CTCTGTCCCTTCTTAGTATGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792696 52792697 52792697 downstr_intron 14 1.45161290322581 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACATACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 38 429 1 0.995618625156423 0.997809312578211 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 0.00367269395948444 NA 0.976509697142799 NA 0.0212996154354123 NA FALSE NA 0.672 0.402 . intron_variant MODIFIER KRT3 HGNC 6440 ENST00000309505 4/8 1 NA AGG G,T 8.258e-06 12:52792697 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 intron_variant 1.18206 0.234 0.1314 0.06567 0.763098763087163 0.0943699 1.92686672080473e-06 FALSE 4.0622e-06 ENSE00001192093_003 ENSE00001192093 003 12 53186463 53186632 - 32 96 42 C A 53186489 1804 144 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGTATGTTACCTACTAAGAAGGGACAGAG 52792678 52792848 52792704 52792705 52792705 downstr_intron 6 1.19354838709677 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGTATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 700 480 0.996990097186962 0.994079366008826 0.995534731597894 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0359166340983024 0.00213343481188766 NA 0.976509697142799 NA 0.019025034455095 NA FALSE NA 0.494 0.305 . splice_region_variant&intron_variant LOW KRT3 HGNC 6440 ENST00000309505 4/8 1 NA TCC C,A 8.257e-06 12:52792705 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 splice_region_variant 1.747866 0.93391 0.45804 0.06567 0.820279797525238 0.188281 1.92686672080473e-06 FALSE 4.06147e-06 ENSE00001192093_007 ENSE00001192093 007 12 53186463 53186632 - 32 96 42 G A 53186501 1808 132 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTATGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG 52792678 52792848 52792716 52792717 52792717 exon -7 0.9375 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTATGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 736 49 0.869330468713851 0.96628442950182 0.917807449107835 NA NA 0.96107346308866 0.991945931196939 NA NA -0.091742994374809 -0.0256615016951188 NA 0.976509697142799 NA -0.0587022480349639 NA FALSE NA 0.135 -0.392 . synonymous_variant LOW KRT3 HGNC 6440 ENST00000309505 4/9 rs200246450 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0001 CGT G,A 8.256e-05 12:52792717 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 synonymous_variant -0.08579 0.95395 0.02254 0.549168 0.195641269636488 0 1.92686672080473e-06 FALSE 6.09187e-05 ENSE00001192093_008 ENSE00001192093 008 12 53186463 53186632 - 32 96 42 C T 53186521 1809 112 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTTGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792736 52792737 52792737 exon -27 0.729166666666667 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCAACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 53 215 1 0.984230342558036 0.992115171279018 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 -0.0077155886389022 NA 0.976509697142799 NA 0.015605474136219 NA FALSE NA 1 1.753 . missense_variant MODERATE KRT3 HGNC 6440 ENST00000309505 4/9 COSM1256087 1 benign(0.008) NA TCG C,T 5.777e-05 12:52792737 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 missense_variant 0.400205 0.95404 0.11149 0.549168 0.239181266166589 0 1.92686672080473e-06 FALSE 3.24878e-05 ENSE00001192093_009 ENSE00001192093 009 12 53186463 53186632 - 32 96 42 G A 53186522 1810 111 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATTGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG 52792678 52792848 52792737 52792738 52792738 exon -28 0.71875 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATTGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 56 212 1 1 1 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 0.00805406880306136 NA 0.976509697142799 NA 0.0234903028572008 NA FALSE NA 1 0.758 rs144405688 synonymous_variant LOW KRT3 HGNC 6440 ENST00000309505 4/9 rs144405688 1 A:0.0018 A:0 A:0.0014 NA A:0 A:0.006 A:0.002 A:0.0002 A:0.0023 CGA G,A 0.002368 12:52792738 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 synonymous_variant 1.359989 0.96977 0.8619 0.549168 0.664043754238528 0 1.92686672080473e-06 FALSE 0.00222955 ENSE00001192093_010 ENSE00001192093 010 12 53186463 53186632 - 32 96 42 A G 53186532 1811 101 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTGTCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792747 52792748 52792748 exon -38 0.614583333333333 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGACAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 179 61 1 1 1 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 0.00805406880306136 NA 0.976509697142799 NA 0.0234903028572008 NA FALSE NA 0 -2.241 rs114078275 missense_variant MODERATE KRT3 HGNC 6440 ENST00000309505 4/9 rs114078275 1 benign(0.013) G:0.0034 G:0.0129 G:0 NA G:0 G:0 G:0 G:0.0106 G:0 TAT A,G 0.001089 12:52792748 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 missense_variant -1.33878 0.17034 0.01965 0.549168 0.201659631133669 0 1.92686672080473e-06 FALSE 0.000808122 ENSE00001192093_011 ENSE00001192093 011 12 53186463 53186632 - 32 96 42 C T 53186539 1812 94 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGTATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792754 52792755 52792755 exon -45 0.541666666666667 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATACCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 595 324 0.885721033841248 0.999511562407072 0.94261629812416 NA NA 0.96107346308866 0.991945931196939 NA NA -0.0753524292474117 0.00756563121013321 NA 0.976509697142799 NA -0.0338933990186392 NA FALSE NA 0 -1.516 . missense_variant MODERATE KRT3 HGNC 6440 ENST00000309505 4/9 1 benign(0.108) NA GCA C,T 8.25e-06 12:52792755 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 missense_variant 1.164933 0.21778 0.05431 0.549168 0.941562471756393 0 1.92686672080473e-06 FALSE 8.1217e-06 ENSE00001192093_013 ENSE00001192093 013 12 53186463 53186632 - 32 96 42 C T 53186561 1814 72 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCTACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792776 52792777 52792777 exon 30 0.3125 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTAGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 126 293 1 0.985858502963224 0.992929251481612 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 -0.00608742823371478 NA 0.976509697142799 NA 0.0164195543388127 NA FALSE NA 0 -1.272 . synonymous_variant LOW KRT3 HGNC 6440 ENST00000309505 4/9 1 NA CCA C,T 1.65e-05 12:52792777 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 synonymous_variant 1.66873 0.96183 0.18336 0.549168 0.747437771198127 0 1.92686672080473e-06 FALSE 8.12229e-06 ENSE00001192093_016 ENSE00001192093 016 12 53186463 53186632 - 32 96 42 G A 53186577 1817 56 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGTCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG 52792678 52792848 52792792 52792793 52792793 exon 14 0.145833333333333 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGTCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 438 85 1 0.935369404032121 0.96768470201606 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 -0.0565765271648178 NA 0.976509697142799 NA -0.00882499512673879 NA FALSE NA 1 5.58 . missense_variant MODERATE KRT3 HGNC 6440 ENST00000309505 4/9 rs199614200 1 possibly_damaging(0.55) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0012 GGC G,A 0.0003301 12:52792793 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 missense_variant 5.794926 0.98829 0.96922 0.549168 0.998519982167696 0 1.92686672080473e-06 FALSE 0.000304695 ENSE00001192093_017 ENSE00001192093 017 12 53186463 53186632 - 32 96 42 T C 53186581 1818 52 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACGGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG 52792678 52792848 52792796 52792797 52792797 exon 10 0.104166666666667 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACGGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 45 224 1 1 1 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 0.00805406880306136 NA 0.976509697142799 NA 0.0234903028572008 NA FALSE NA 0 -0.303 . missense_variant MODERATE KRT3 HGNC 6440 ENST00000309505 4/9 1 benign(0.01) NA CTG T,C 8.253e-06 12:52792797 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 missense_variant -0.39368 0.18589 0.00674 0.549168 0.901029473334509 0 1.92686672080473e-06 FALSE 4.0656e-06 ENSE00001192093_018 ENSE00001192093 018 12 53186463 53186632 - 32 96 42 C T 53186587 1819 46 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCATATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792802 52792803 52792803 exon 4 0.0416666666666667 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATATGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 295 176 0.993176858101716 1 0.996588429050858 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0321033950130559 0.00805406880306136 NA 0.976509697142799 NA 0.0200787319080586 NA FALSE NA 1 4.771 . missense_variant MODERATE KRT3 HGNC 6440 ENST00000309505 4/9 1 possibly_damaging(0.835) NA ACA C,T 8.254e-06 12:52792803 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 missense_variant 6.091023 0.99306 0.98181 0.446893 0.998413405501213 0 1.92686672080473e-06 FALSE 4.09614e-06 ENSE00001192093_019 ENSE00001192093 019 12 53186463 53186632 - 32 96 42 C T 53186590 1820 43 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATTCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792805 52792806 52792806 exon 1 0.0104166666666667 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGAATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 194 632 1 0.989341719849762 0.994670859924881 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 -0.0026042113471767 NA 0.976509697142799 NA 0.0181611627820817 NA FALSE NA 1 5.774 . missense_variant&splice_region_variant MODERATE KRT3 HGNC 6440 ENST00000309505 4/9 1 possibly_damaging(0.747) NA TCC C,T 8.254e-06 12:52792806 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 missense_variant 6.348931 0.99289 0.97899 0.446893 0.999085106899801 0 1.92686672080473e-06 FALSE 8.21429e-06 ENSE00001192093_020 ENSE00001192093 020 12 53186463 53186632 - 32 96 42 G A 53186593 1821 40 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTTAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG 52792678 52792848 52792808 52792809 52792809 upstr_intron -3 -0.0476190476190476 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTTAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 73 613 0.972387164318821 1 0.98619358215941 NA NA 0.96107346308866 0.991945931196939 NA NA 0.011313701230161 0.00805406880306136 NA 0.976509697142799 NA 0.00968388501661116 NA FALSE NA 0.313 0.847 . splice_region_variant&intron_variant LOW KRT3 HGNC 6440 ENST00000309505 3/8 1 NA TGA G,A 8.254e-06 12:52792809 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 splice_region_variant 1.091425 0.95262 0.78753 0.06567 0.728281260595676 0.300852 1.92686672080473e-06 FALSE 4.12466e-06 ENSE00001192093_021 ENSE00001192093 021 12 53186463 53186632 - 32 96 42 A T 53186599 1822 34 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAATGAGGAAGATAAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792814 52792815 52792815 upstr_intron -9 -0.19047619047619 GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCATTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 815 95 1 0.999598393899595 0.999799196949797 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 0.00765246270265607 NA 0.976509697142799 NA 0.0232894998069981 NA FALSE NA 0.181 1.09 . intron_variant MODIFIER KRT3 HGNC 6440 ENST00000309505 3/8 rs368523623 1 NA T:0 T:0.0001 AAG A,T 1.651e-05 12:52792815 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 intron_variant 0.347663 0.25051 0.23709 0.06567 0.769585069919493 0.0659624 1.92686672080473e-06 FALSE 8.21753e-06 ENSE00001192093_023 ENSE00001192093 023 12 53186463 53186632 - 32 96 42 A G 53186609 1824 24 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATGAAGGCCTTATTCTCCCAATGAAC 52792678 52792848 52792824 52792825 52792825 upstr_intron -19 -0.428571428571429 GTTCATTGGGAGAATAAGGCCTTCATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 13 107 1 1 1 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 0.00805406880306136 NA 0.976509697142799 NA 0.0234903028572008 NA FALSE NA 0.001 0.058 . intron_variant MODIFIER KRT3 HGNC 6440 ENST00000309505 3/8 1 NA TAA A,G 8.255e-06 12:52792825 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 intron_variant -0.305896 0.21183 0.01808 0.06567 0.512075353367646 0.0739608 1.92686672080473e-06 FALSE 4.10556e-06 ENSE00001192093_025 ENSE00001192093 025 12 53186463 53186632 - 32 96 42 C T 53186615 1826 18 CTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCTTTATTCTCCCAATGAAC 52792678 52792848 52792830 52792831 52792831 upstr_intron -25 -0.571428571428571 GTTCATTGGGAGAATAAAGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG GTTCATTGGGAGAATAAGGCCTTTATCTTCCTCTTTTCTCAGGATGTGGACAGTGCCTATATGAACAAGGTGGAGCTTCAGGCCAAAGTGGATGCCTTGATAGATGAGATCGACTTCTTAAGGACCCTCTACGACGCTGTAAGGATGTTACCTACTAAGAAGGGACAGAG mutant NA NA NA NA NA 110 228 1 1 1 NA NA 0.96107346308866 0.991945931196939 NA NA 0.0389265369113402 0.00805406880306136 NA 0.976509697142799 NA 0.0234903028572008 NA FALSE NA 0 -0.568 . intron_variant MODIFIER KRT3 HGNC 6440 ENST00000309505 3/8 1 NA CCT C,T 8.257e-06 12:52792831 KRT3 HGNC Symbol protein_coding 6432 ENSG00000186442 ENSE00001192093 intron_variant 0.193769 0.21859 0.02754 0.06567 0.532032347886978 0.0572998 1.92686672080473e-06 FALSE 2.05626e-05 ENSE00001192144_000 ENSE00001192144 000 1 40527356 40527525 + 51 78 41 NA NA NA NA NA GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 NA NA NA NA NA NA GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC natural 16 15 0.999461578903647 1 0.999730789451823 2073 1376 0.914309126330842 0.966000787015114 0.940154956672978 0.999461578903647 1 0.914309126330842 0.966000787015114 0 0 0 0 0.999730789451823 0.940154956672978 0 0 0 FALSE FALSE NA NA NA NA NA CAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAP1 NA NA NA ENSG00000131236 ENSE00001192144 NA NA NA NA NA NA NA 0.585940925968321 FALSE NA ENSE00001192144_004 ENSE00001192144 004 1 40527356 40527525 + 51 78 41 A T 40527390 1406 35 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGTTTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061717 40061718 40061718 upstr_intron -17 -0.313725490196078 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGTTTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 307 204 1 0.988391609713955 0.994195804856977 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA 0.0856908736691581 0.0223908226988413 0.999730789451823 0.940154956672978 NA 0.0540408481839997 NA FALSE NA 0.379 0.342 . intron_variant MODIFIER CAP1 HGNC 20040 ENST00000372805 3/12 1 NA GAT A,T 8.275e-06 1:40061718 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 intron_variant 2.388768 0.70692 0.40286 0.139865 0.88348307645214 0.385825 0.585940925968321 FALSE 4.06217e-06 ENSE00001192144_007 ENSE00001192144 007 1 40527356 40527525 + 51 78 41 T C 40527397 1409 42 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCCTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061724 40061725 40061725 upstr_intron -10 -0.176470588235294 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCCTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant 29 15 0.85 0.85 0.85 165 66 0.95 0.903326758596093 0.926663379298047 0.999461578903647 1 0.914309126330842 0.966000787015114 -0.149461578903647 -0.15 0.0356908736691579 -0.0626740284190203 0.999730789451823 0.940154956672978 -0.149730789451823 -0.0134915773749312 0.136239212076892 FALSE FALSE 0.061 1.914 . intron_variant MODIFIER CAP1 HGNC 20040 ENST00000372805 3/12 1 NA CTT T,C 8.275e-06 1:40061725 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 intron_variant 1.830647 0.17566 0.34823 0.139865 0.797721241624813 0.431554 0.585940925968321 FALSE 4.06194e-06 ENSE00001192144_008 ENSE00001192144 008 1 40527356 40527525 + 51 78 41 T C 40527399 1410 44 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTCCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061726 40061727 40061727 upstr_intron -8 -0.137254901960784 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTCCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 38 2948 1 0.93398284235927 0.966991421179635 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA 0.0856908736691581 -0.0320179446558433 0.999730789451823 0.940154956672978 NA 0.0268364645066574 NA FALSE NA 0 -0.365 . splice_region_variant&intron_variant LOW CAP1 HGNC 20040 ENST00000372805 3/12 1 NA TTC T,C 8.275e-06 1:40061727 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 splice_region_variant 0.989817 0.15951 0.10323 0.139865 0.641652347693072 0.411159 0.585940925968321 FALSE 4.06204e-06 ENSE00001192144_009 ENSE00001192144 009 1 40527356 40527525 + 51 78 41 G A 40527407 1411 52 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGACGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061734 40061735 40061735 exon 1 0.0128205128205128 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGACGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 611 17 0.977478443780477 1 0.988739221890238 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA 0.0631693174496346 0.0339992129848863 0.999730789451823 0.940154956672978 NA 0.0485842652172604 NA FALSE NA 1 8.3 . missense_variant&splice_region_variant MODERATE CAP1 HGNC 20040 ENST00000372805 4/13 1 deleterious(0) probably_damaging(0.924) NA GGC G,A 1.655e-05 1:40061735 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 missense_variant 7.065306 0.99233 0.99455 0.722319 0.999089786346604 0 0.585940925968321 FALSE 1.21867e-05 ENSE00001192144_010 ENSE00001192144 010 1 40527356 40527525 + 51 78 41 G A 40527409 1412 54 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCAGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061736 40061737 40061737 exon 3 0.0384615384615385 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCAGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 76 354 0.831343759198707 0.947800103198493 0.8895719311986 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA -0.0829653671321345 -0.0182006838166204 0.999730789451823 0.940154956672978 NA -0.0505830254743775 NA FALSE NA 0.872 -0.156 rs34497744 splice_region_variant&synonymous_variant LOW CAP1 HGNC 20040 ENST00000372805 4/13 rs34497744 1 A:0.0086 A:0.0318 A:0.0014 NA A:0 A:0 A:0 A:0.0193 A:0.0002 CGG G,A 0.002102 1:40061737 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 splice_region_variant 2.179066 0.92192 0.58665 0.722319 0.87120857618747 0 0.585940925968321 FALSE 0.0019947 ENSE00001192144_012 ENSE00001192144 012 1 40527356 40527525 + 51 78 41 C T 40527423 1414 68 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACATAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061750 40061751 40061751 exon 17 0.217948717948718 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACATAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 253 53 0.985667169837564 1 0.992833584918782 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA 0.0713580435067224 0.0339992129848863 0.999730789451823 0.940154956672978 NA 0.0526786282458043 NA FALSE NA 0.029 0.495 . missense_variant MODERATE CAP1 HGNC 20040 ENST00000372805 4/13 1 tolerated(0.14) benign(0.17) NA ACA C,T 8.275e-06 1:40061751 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 missense_variant 2.864345 0.95914 0.48142 0.722319 0.996277959827831 0 0.585940925968321 FALSE 4.06184e-06 ENSE00001192144_014 ENSE00001192144 014 1 40527356 40527525 + 51 78 41 G T 40527426 1416 71 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGTTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061753 40061754 40061754 exon 20 0.256410256410256 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGTTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 138 700 0.985239470685588 0.994426905615306 0.989833188150447 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA 0.0709303443547464 0.0284261186001921 0.999730789451823 0.940154956672978 NA 0.0496782314774692 NA FALSE NA 1 5.92 . missense_variant MODERATE CAP1 HGNC 20040 ENST00000372805 4/13 rs201066017 1 deleterious(0.04) probably_damaging(0.938) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GGT G,T 8.275e-06 1:40061754 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 missense_variant 5.471125 0.98159 0.9771 0.722319 0.995864470224821 0 0.585940925968321 FALSE 4.06194e-06 ENSE00001192144_015 ENSE00001192144 015 1 40527356 40527525 + 51 78 41 C A 40527440 1417 85 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGAGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061767 40061768 40061768 exon 34 0.435897435897436 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGAGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 571 44 1 0.999130355032109 0.999565177516054 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA 0.0856908736691581 0.0331295680169951 0.999730789451823 0.940154956672978 NA 0.0594102208430766 NA FALSE NA 1 4.282 . synonymous_variant LOW CAP1 HGNC 20040 ENST00000372805 4/13 1 NA GCG C,A 2.482e-05 1:40061768 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 synonymous_variant 2.863644 0.96742 0.77318 0.722319 0.633539315160195 0 0.585940925968321 FALSE 1.62489e-05 ENSE00001192144_016 ENSE00001192144 016 1 40527356 40527525 + 51 78 41 G A 40527441 1418 86 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCAAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061768 40061769 40061769 exon 35 0.448717948717949 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCAAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant 77 19 0.882731092728523 1 0.941365546364261 320 226 1 1 1 0.999461578903647 1 0.914309126330842 0.966000787015114 -0.116730486175124 0 0.0856908736691581 0.0339992129848863 0.999730789451823 0.940154956672978 -0.058365243087562 0.0598450433270222 0.118210286414584 FALSE FALSE 1 5.376 . missense_variant MODERATE CAP1 HGNC 20040 ENST00000372805 4/13 1 tolerated(0.06) benign(0.265) NA CGA G,A 1.655e-05 1:40061769 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 missense_variant 3.041075 0.9687 0.97153 0.722319 0.998883632888931 0 0.585940925968321 FALSE 1.62477e-05 ENSE00001192144_017 ENSE00001192144 017 1 40527356 40527525 + 51 78 41 C T 40527444 1419 89 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGTTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061771 40061772 40061772 exon 38 0.487179487179487 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGTTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 91 780 0.867825724310912 0.99974830639271 0.933787015351811 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA -0.0464834020199296 0.033747519377596 0.999730789451823 0.940154956672978 NA -0.0063679413211668 NA FALSE NA 1 3.03 . missense_variant MODERATE CAP1 HGNC 20040 ENST00000372805 4/13 rs376438354 1 tolerated(0.22) benign(0.014) NA T:0.0003 T:0.0001 GCT C,T 2.482e-05 1:40061772 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 missense_variant 3.206707 0.98964 0.97319 0.722319 0.996263934666094 0 0.585940925968321 FALSE 2.84342e-05 ENSE00001192144_019 ENSE00001192144 019 1 40527356 40527525 + 51 78 41 T C 40527463 1421 108 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCCCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061790 40061791 40061791 exon -22 0.730769230769231 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCCCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 94 1300 0.978488191270131 0.998659420827615 0.988573806048873 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA 0.0641790649392889 0.0326586338125013 0.999730789451823 0.940154956672978 NA 0.0484188493758951 NA FALSE NA 1 0.525 . synonymous_variant LOW CAP1 HGNC 20040 ENST00000372805 4/13 1 NA CTC T,C 8.274e-06 1:40061791 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 synonymous_variant -0.27795 0.9754 0.86035 0.722319 0.486943298293742 0 0.585940925968321 FALSE 4.06197e-06 ENSE00001192144_021 ENSE00001192144 021 1 40527356 40527525 + 51 78 41 T C 40527486 1423 131 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGCAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061813 40061814 40061814 downstr_intron 2 1.05 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGCAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant 25 40 0 0 0 NA NA NA NA NA 0.999461578903647 1 0.914309126330842 0.966000787015114 -0.999461578903647 -1 NA NA 0.999730789451823 0.940154956672978 -0.999730789451823 NA NA NA TRUE 1 6.783 . splice_donor_variant HIGH CAP1 HGNC 20040 ENST00000372805 4/12 1 NA HC GTA T,C 8.276e-06 1:40061814 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 splice_donor_variant 3.234382 0.9801 0.98842 0.139865 0.971468371617751 0.958989 0.585940925968321 FALSE 4.06227e-06 ENSE00001192144_024 ENSE00001192144 024 1 40527356 40527525 + 51 78 41 G A 40527500 1426 145 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAACTGGTTTCATTTTGGTTTGATGCTC 40061683 40061853 40061827 40061828 40061828 downstr_intron 16 1.4 GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAACTGGTTTCATTTTGGTTTGATGCTC GACTTCTCTAGTTATAATGTGTCATCAATAGCTGATTCTTCTTTCTGGCAGGCGGAGATGGTCCACACAGGTTTGAAGTTGGAGCGAGCTCTGTTGGTTACAGCTTCTCAGTGTCAACAGCCAGCAGAAGTAAGTTCACTACTAGCTGGTTTCATTTTGGTTTGATGCTC mutant NA NA NA NA NA 155 44 1 0.999130355032109 0.999565177516054 0.999461578903647 1 0.914309126330842 0.966000787015114 NA NA 0.0856908736691581 0.0331295680169951 0.999730789451823 0.940154956672978 NA 0.0594102208430766 NA FALSE NA 0.001 0.457 . intron_variant MODIFIER CAP1 HGNC 20040 ENST00000372805 4/12 1 NA AGC G,A 8.276e-06 1:40061828 CAP1 HGNC Symbol protein_coding 32416 ENSG00000131236 ENSE00001192144 intron_variant 0.317535 0.17837 0.20901 0.099367 0.526337595655869 0.154419 0.585940925968321 FALSE 4.06388e-06 ENSE00001193834_000 ENSE00001193834 000 12 51112688 51112857 + 50 81 39 NA NA NA NA NA CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 NA NA NA NA NA NA CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC natural 26 31 0.85 0.712087786428437 0.781043893214218 6558 4584 0.96202048579615 0.799853747608117 0.880937116702134 0.85 0.712087786428437 0.96202048579615 0.799853747608117 0 0 0 0 0.781043893214218 0.880937116702134 0 0 0 FALSE FALSE NA NA NA NA NA DIP2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIP2B NA NA NA ENSG00000066084 ENSE00003465371 NA NA NA NA NA NA NA 0.999668381879693 TRUE NA ENSE00001193834_001 ENSE00001193834 001 12 51112688 51112857 + 50 81 39 G A 51112698 1565 11 CTTGTTATAAATTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718914 50718915 50718915 upstr_intron -40 -0.78 CTTGTTATAAATTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 2155 512 0.972737004596278 0.958102107425757 0.965419556011017 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA 0.0107165188001277 0.15824835981764 0.781043893214218 0.880937116702134 NA 0.0844824393088839 NA FALSE NA 0 -0.721 . intron_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 13/26 rs373514904 1 NA A:0.0002 A:0 AGT G,A 1.647e-05 12:50718915 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 intron_variant 1.99138 0.26478 0.10698 0.156188 0.703469297473768 0.0492801 0.999668381879693 TRUE 1.22472e-05 ENSE00001193834_004 ENSE00001193834 004 12 51112688 51112857 + 50 81 39 C A 51112741 1568 54 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACAAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718957 50718958 50718958 exon 4 0.0493827160493827 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACAAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 408 488 0.927519114696986 0.876692444195987 0.902105779446487 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.0345013710991638 0.07683869658787 0.781043893214218 0.880937116702134 NA 0.0211686627443531 NA FALSE NA 1 7.586 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA CCA C,A 1.647e-05 12:50718958 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 missense_variant 2.660514 0.98756 0.98861 0.706548 0.592538052520873 0 0.999668381879693 TRUE 8.12949e-06 ENSE00001193834_005 ENSE00001193834 005 12 51112688 51112857 + 50 81 39 A C 51112756 1569 69 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGCTCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718972 50718973 50718973 exon 19 0.234567901234568 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGCTCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 1336 63 0.802002409752326 0.820736755558177 0.811369582655251 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.160018076043824 0.0208830079500598 0.781043893214218 0.880937116702134 NA -0.0695675340468822 NA FALSE NA 1 6.287 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA GAT A,C 8.236e-06 12:50718973 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 missense_variant 3.000382 0.98774 0.96764 0.706548 0.976151758966973 0 0.999668381879693 TRUE 8.12539e-06 ENSE00001193834_006 ENSE00001193834 006 12 51112688 51112857 + 50 81 39 C T 51112759 1570 72 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCTTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718975 50718976 50718976 exon 22 0.271604938271605 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCTTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 1387 466 0.8 0.888188740359722 0.844094370179861 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.16202048579615 0.0883349927516047 0.781043893214218 0.880937116702134 NA -0.0368427465222727 NA FALSE NA 0.033 0.212 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA CCT C,T 8.236e-06 12:50718976 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 synonymous_variant 1.846518 0.92998 0.08044 0.706548 0.673256601840313 0 0.999668381879693 TRUE 4.06398e-06 ENSE00001193834_008 ENSE00001193834 008 12 51112688 51112857 + 50 81 39 C G 51112762 1572 75 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTAGAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718978 50718979 50718979 exon 25 0.308641975308642 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTAGAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 1391 1362 0.877138539584543 0.832526842979656 0.854832691282099 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.0848819462116069 0.0326730953715387 0.781043893214218 0.880937116702134 NA -0.0261044254200341 NA FALSE NA 1 7.586 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:50718979 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 missense_variant 3.274794 0.9951 0.99415 0.706548 0.985513714074105 0 0.999668381879693 TRUE 1.62565e-05 ENSE00001193834_009 ENSE00001193834 009 12 51112688 51112857 + 50 81 39 C T 51112762 1573 75 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTATAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718978 50718979 50718979 exon 25 0.308641975308642 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTATAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 1385 378 0.0268625597104919 0.000968293780732564 0.0139154267456122 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.935157926085658 -0.798885453827384 0.781043893214218 0.880937116702134 NA -0.867021689956521 NA TRUE NA 1 7.586 NA NA NA DIP2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIP2B NA NA NA ENSG00000066084 ENSE00003465371 stop_gained 14.389534 0.99483 0.99233 0.706548 0.998150716313518 0 0.999668381879693 TRUE 4.06412e-06 ENSE00001193834_010 ENSE00001193834 010 12 51112688 51112857 + 50 81 39 G C 51112766 1574 79 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTCGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718982 50718983 50718983 exon 29 0.358024691358025 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTCGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 84 56 0.0513670599759148 0 0.0256835299879574 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.910653425820235 -0.799853747608117 0.781043893214218 0.880937116702134 NA -0.855253586714176 NA TRUE NA 1 9.571 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA TGG G,C 8.236e-06 12:50718983 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 missense_variant 5.570059 0.99188 0.99508 0.706548 0.976911478605506 0 0.999668381879693 TRUE 4.06425e-06 ENSE00001193834_011 ENSE00001193834 011 12 51112688 51112857 + 50 81 39 G C 51112776 1575 89 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCACGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718992 50718993 50718993 exon 39 0.481481481481481 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCACGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 338 665 0.942120123324129 0.949221075077102 0.945670599200616 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.019900362472021 0.149367327468985 0.781043893214218 0.880937116702134 NA 0.0647334824984821 NA FALSE NA 1 1.041 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA AGG G,C 8.236e-06 12:50718993 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 missense_variant 2.354396 0.97761 0.93736 0.706548 0.961241324671454 0 0.999668381879693 TRUE 4.06415e-06 ENSE00001193834_012 ENSE00001193834 012 12 51112688 51112857 + 50 81 39 C T 51112778 1576 91 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGTGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50718994 50718995 50718995 exon -41 0.506172839506173 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGTGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 136 328 0.955544833367975 0.963475284374823 0.959510058871399 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.00647565242817494 0.163621536766706 0.781043893214218 0.880937116702134 NA 0.0785729421692657 NA FALSE NA 1 4.648 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA GCG C,T 8.236e-06 12:50718995 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 missense_variant 5.973869 0.99497 0.98095 0.706548 0.998232590455742 0 0.999668381879693 TRUE 4.06415e-06 ENSE00001193834_014 ENSE00001193834 014 12 51112688 51112857 + 50 81 39 A C 51112787 1578 100 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGCCCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50719003 50719004 50719004 exon -32 0.617283950617284 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGCCCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant 13 88 0.85 0.85 0.85 243 501 0.8 0.805483295105677 0.802741647552838 0.85 0.712087786428437 0.96202048579615 0.799853747608117 0 0.137912213571563 -0.16202048579615 0.00562954749755973 0.781043893214218 0.880937116702134 0.0689561067857816 -0.0781954691492952 0.147151575935077 FALSE FALSE 1 9.059 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA GAC A,C 8.236e-06 12:50719004 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 missense_variant 6.325376 0.99349 0.9954 0.706548 0.995390599525791 0 0.999668381879693 TRUE 4.06418e-06 ENSE00001193834_015 ENSE00001193834 015 12 51112688 51112857 + 50 81 39 T C 51112791 1579 104 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCACGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50719007 50719008 50719008 exon -28 0.666666666666667 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCACGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 825 44 0.98331957182873 0.948156855713737 0.965738213771233 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA 0.0212990860325794 0.14830310810562 0.781043893214218 0.880937116702134 NA 0.0848010970690999 NA FALSE NA 0 -0.375 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA ATG T,C 8.236e-06 12:50719008 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 synonymous_variant 0.374021 0.60012 0.10546 0.706548 0.472376493041135 0 0.999668381879693 TRUE 4.06428e-06 ENSE00001193834_016 ENSE00001193834 016 12 51112688 51112857 + 50 81 39 A G 51112801 1580 114 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCGTGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC 50718904 50719074 50719017 50719018 50719018 exon -18 0.790123456790123 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCGTGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant 16 26 0.85 0.85 0.85 967 1700 0.920466622315057 0.94182202232366 0.931144322319358 0.85 0.712087786428437 0.96202048579615 0.799853747608117 -1.11022302462516e-16 0.137912213571563 -0.0415538634810931 0.141968274715543 0.781043893214218 0.880937116702134 0.0689561067857815 0.0502072056172247 0.0187489011685567 FALSE FALSE 1 1.374 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/27 1 NA CAT A,G 8.236e-06 12:50719018 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 missense_variant 1.802385 0.97806 0.84598 0.706548 0.935995206721979 0 0.999668381879693 TRUE 8.13134e-06 ENSE00001193834_017 ENSE00001193834 017 12 51112688 51112857 + 50 81 39 G C 51112835 1581 148 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATCGTATATCTAATCAGCTGACTAC 50718904 50719074 50719051 50719052 50719052 downstr_intron 17 1.44736842105263 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATCGTATATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 619 176 0.990159950773354 0.98510376907297 0.987631859923162 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA 0.0281394649772038 0.185250021464853 0.781043893214218 0.880937116702134 NA 0.106694743221029 NA FALSE NA 0 -0.408 . intron_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/26 1 NA TGG G,C 8.237e-06 12:50719052 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 intron_variant 0.234178 0.18024 0.04886 0.062308 0.593474566929917 0.0456277 0.999668381879693 TRUE 4.1026e-06 ENSE00001193834_018 ENSE00001193834 018 12 51112688 51112857 + 50 81 39 A G 51112838 1582 151 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTGTATCTAATCAGCTGACTAC 50718904 50719074 50719054 50719055 50719055 downstr_intron 20 1.52631578947368 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTGTATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 270 24 0.95 0.95 0.95 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.0120204857961502 0.150146252391883 0.781043893214218 0.880937116702134 NA 0.0690628832978664 NA FALSE NA 0 -0.835 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:50719055 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 intron_variant 0.614999 0.15364 0.02878 0.062308 0.595153635511258 0.0456277 0.999668381879693 TRUE 2.88177e-05 ENSE00001193834_019 ENSE00001193834 019 12 51112688 51112857 + 50 81 39 A T 51112838 1583 151 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTTTATCTAATCAGCTGACTAC 50718904 50719074 50719054 50719055 50719055 downstr_intron 20 1.52631578947368 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTTTATCTAATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant NA NA NA NA NA 307 217 0.940790227767785 0.9889341225235 0.964862175145643 0.85 0.712087786428437 0.96202048579615 0.799853747608117 NA NA -0.021230258028365 0.189080374915383 0.781043893214218 0.880937116702134 NA 0.0839250584435091 NA FALSE NA 0 -0.835 NA NA NA DIP2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIP2B NA NA NA ENSG00000066084 ENSE00003465371 intron_variant 0.473704 0.18627 0.08097 0.062308 0.668736206067591 0.0456277 0.999668381879693 TRUE 2.47009e-05 ENSE00001193834_020 ENSE00001193834 020 12 51112688 51112857 + 50 81 39 A G 51112844 1584 157 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTGATCAGCTGACTAC 50718904 50719074 50719060 50719061 50719061 downstr_intron 26 1.68421052631579 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTGATCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant 12 26 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.712087786428437 0.96202048579615 0.799853747608117 0 0.137912213571563 NA NA 0.781043893214218 0.880937116702134 0.0689561067857815 NA NA NA FALSE 0 -0.102 . intron_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/26 1 NA TAA A,G 8.237e-06 12:50719061 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 intron_variant 0.859708 0.15531 0.02113 0.062308 0.76604749218664 0.0456277 0.999668381879693 TRUE 4.15483e-06 ENSE00001193834_021 ENSE00001193834 021 12 51112688 51112857 + 50 81 39 A G 51112845 1585 158 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAGTCAGCTGACTAC 50718904 50719074 50719061 50719062 50719062 downstr_intron 27 1.71052631578947 CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAGTCAGCTGACTAC CTTGTTATAAGTTGCTGACCCTGAGTCCTTTTTCTGGTTTATGACTTCAGCACCAGTTTCTGGCAGAGATCCTACAGTGGCGAGCCCAGGCGACTCCTGACCATGTACTCTTCATGCTGTTAAATGCCAAGGTATTAAAAATTCAATGGTATATCTAATCAGCTGACTAC mutant 91 115 0.85 0.85 0.85 966 408 0.95 0.956338580183833 0.953169290091917 0.85 0.712087786428437 0.96202048579615 0.799853747608117 0 0.137912213571563 -0.0120204857961503 0.156484832575716 0.781043893214218 0.880937116702134 0.0689561067857816 0.072232173389783 0.00327606660400143 FALSE FALSE 0 1.878 . intron_variant&NMD_transcript_variant MODIFIER DIP2B HGNC 29284 ENST00000546732 14/26 1 NA AAT A,G 8.237e-06 12:50719062 DIP2B HGNC Symbol protein_coding 243682 ENSG00000066084 ENSE00003465371 intron_variant 1.142955 0.29091 0.11405 0.062308 0.845507680997206 0.0456277 0.999668381879693 TRUE 8.32037e-06 ENSE00001194845_000 ENSE00001194845 000 10 5471073 5471242 + 60 60 50 NA NA NA NA NA CTATCTGCATATTTTTAAATGCTTTTCTTTAACAGGGCAGCAGGGCTTACCTTCAGATCAAGGCTGCTAAGGCTTACAACATCATCATCTTTCTCTCTGCGTTTTCTTTTCTAAAAGAAAAATAGAGATTTCATTCTCATATAAAAGGAATGCATATTACCTCACAAAAC 5429109 5429279 NA NA NA NA NA NA GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG natural NA NA NA NA NA 256 1463 0.983489435597724 0.999478040629319 0.991483738113521 NA NA 0.983489435597724 0.999478040629319 NA NA 0 0 NA 0.991483738113521 NA 0 NA FALSE NA NA NA NA NA NA NET1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NET1 NA NA NA ENSG00000173848 ENSE00003616274 NA NA NA NA NA NA NA 0.0668541946676421 FALSE NA ENSE00001194845_001 ENSE00001194845 001 10 5471073 5471242 + 60 60 50 A G 5471092 218 20 CTATCTGCATATTTTTAAATGCTTTTCTTTAACAGGGCAGCAGGGCTTACCTTCAGATCAAGGCTGCTAAGGCTTACAACATCATCATCTTTCTCTCTGCGTTTTCTTTTCTAAAAGAAAAATAGAGATTTCATTCTCATATAAAAGGAACGCATATTACCTCACAAAAC 5429109 5429279 5429128 5429129 5429129 upstr_intron -41 -0.666666666666667 GTTTTGTGAGGTAATATGCGTTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG mutant NA NA NA NA NA 62 1226 0.8 0.996575684726082 0.898287842363041 NA NA 0.983489435597724 0.999478040629319 NA NA -0.183489435597723 -0.00290235590323729 NA 0.991483738113521 NA -0.0931958957504804 NA FALSE NA 0 -0.059 . intron_variant MODIFIER NET1 HGNC 14592 ENST00000542715 2/11 1 NA CAT A,G 8.28e-06 10:5429129 NET1 HGNC Symbol protein_coding 45912 ENSG00000173848 ENSE00003616274 intron_variant 0.245257 0.12906 0.0418 0.162113 0.662519300639208 0.0789478 0.0668541946676421 FALSE 4.39773e-06 ENSE00001194845_002 ENSE00001194845 002 10 5471073 5471242 + 60 60 50 T C 5471100 219 28 CTATCTGCATATTTTTAAATGCTTTTCTTTAACAGGGCAGCAGGGCTTACCTTCAGATCAAGGCTGCTAAGGCTTACAACATCATCATCTTTCTCTCTGCGTTTTCTTTTCTAAAAGAAAAATAGAGATTTCATTCTCATATGAAAGGAATGCATATTACCTCACAAAAC 5429109 5429279 5429136 5429137 5429137 upstr_intron -33 -0.533333333333333 GTTTTGTGAGGTAATATGCATTCCTTTCATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG mutant NA NA NA NA NA 120 172 1 1 1 NA NA 0.983489435597724 0.999478040629319 NA NA 0.0165105644022765 0.000521959370681113 NA 0.991483738113521 NA 0.0085162618864788 NA FALSE NA 0.019 1.415 . intron_variant MODIFIER NET1 HGNC 14592 ENST00000542715 2/11 1 NA TTA T,C 8.28e-06 10:5429137 NET1 HGNC Symbol protein_coding 45912 ENSG00000173848 ENSE00003616274 intron_variant 0.270028 0.26165 0.19512 0.162113 0.653371066230909 0.59456 0.0668541946676421 FALSE 4.28794e-06 ENSE00001194845_003 ENSE00001194845 003 10 5471073 5471242 + 60 60 50 A G 5471109 220 37 CTATCTGCATATTTTTAAATGCTTTTCTTTAACAGGGCAGCAGGGCTTACCTTCAGATCAAGGCTGCTAAGGCTTACAACATCATCATCTTTCTCTCTGCGTTTTCTTTTCTAAAAGAAAAATAGAGATTTCACTCTCATATAAAAGGAATGCATATTACCTCACAAAAC 5429109 5429279 5429145 5429146 5429146 upstr_intron -24 -0.383333333333333 GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAGTGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG mutant NA NA NA NA NA 115 339 0.986398460034868 0.999887659340516 0.993143059687692 NA NA 0.983489435597724 0.999478040629319 NA NA 0.00290902443714403 0.000409618711196935 NA 0.991483738113521 NA 0.00165932157417048 NA FALSE NA 0.015 1.385 . intron_variant MODIFIER NET1 HGNC 14592 ENST00000542715 2/11 1 NA AAT A,G 1.656e-05 10:5429146 NET1 HGNC Symbol protein_coding 45912 ENSG00000173848 ENSE00003616274 intron_variant 0.165976 0.19989 0.02975 0.078448 0.684951451240498 0.100213 0.0668541946676421 FALSE 3.35359e-05 ENSE00001194845_008 ENSE00001194845 008 10 5471073 5471242 + 60 60 50 A C 5471147 225 75 CTATCTGCATATTTTTAAATGCTTTTCTTTAACAGGGCAGCAGGGCTTACCTTCAGATCAAGGCTGCTAAGGCTTACAACATCATCATCTTTCTCGCTGCGTTTTCTTTTCTAAAAGAAAAATAGAGATTTCATTCTCATATAAAAGGAATGCATATTACCTCACAAAAC 5429109 5429279 5429183 5429184 5429184 exon 15 0.25 GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGCGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG mutant NA NA NA NA NA 14 43 1 0.999110017756007 0.999555008878003 NA NA 0.983489435597724 0.999478040629319 NA NA 0.0165105644022765 -0.000368022873312279 NA 0.991483738113521 NA 0.00807127076448211 NA FALSE NA 1 3.31 . 5_prime_UTR_variant MODIFIER NET1 HGNC 14592 ENST00000542715 3/12 rs375050925 1 NA C:0 C:0.0001 GAG A,C 8.279e-06 10:5429184 NET1 HGNC Symbol protein_coding 45912 ENSG00000173848 ENSE00003616274 missense_variant 4.469429 0.96748 0.94743 0.706298 0.987045744276945 0 0.0668541946676421 FALSE 4.09209e-06 ENSE00001194845_011 ENSE00001194845 011 10 5471073 5471242 + 60 60 50 G A 5471154 228 82 CTATCTGCATATTTTTAAATGCTTTTCTTTAACAGGGCAGCAGGGCTTACCTTCAGATCAAGGCTGCTAAGGCTTACAACATCATCATTTTTCTCTCTGCGTTTTCTTTTCTAAAAGAAAAATAGAGATTTCATTCTCATATAAAAGGAATGCATATTACCTCACAAAAC 5429109 5429279 5429190 5429191 5429191 exon 22 0.366666666666667 GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAAATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG mutant NA NA NA NA NA 162 188 1 1 1 NA NA 0.983489435597724 0.999478040629319 NA NA 0.0165105644022765 0.000521959370681113 NA 0.991483738113521 NA 0.0085162618864788 NA FALSE NA 1 6.279 . 5_prime_UTR_variant MODIFIER NET1 HGNC 14592 ENST00000542715 3/12 1 NA AGA G,A 8.279e-06 10:5429191 NET1 HGNC Symbol protein_coding 45912 ENSG00000173848 ENSE00003616274 missense_variant 5.665208 0.98082 0.95732 0.706298 0.998671709103042 0 0.0668541946676421 FALSE 4.09467e-06 ENSE00001194845_020 ENSE00001194845 020 10 5471073 5471242 + 60 60 50 C A 5471206 237 134 CTATCTGCATATTTTTAAATGCTTTTCTTTAACAGGTCAGCAGGGCTTACCTTCAGATCAAGGCTGCTAAGGCTTACAACATCATCATCTTTCTCTCTGCGTTTTCTTTTCTAAAAGAAAAATAGAGATTTCATTCTCATATAAAAGGAATGCATATTACCTCACAAAAC 5429109 5429279 5429242 5429243 5429243 downstr_intron 14 1.28571428571429 GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGACCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG GTTTTGTGAGGTAATATGCATTCCTTTTATATGAGAATGAAATCTCTATTTTTCTTTTAGAAAAGAAAACGCAGAGAGAAAGATGATGATGTTGTAAGCCTTAGCAGCCTTGATCTGAAGGTAAGCCCTGCTGCCCTGTTAAAGAAAAGCATTTAAAAATATGCAGATAG mutant NA NA NA NA NA 341 71 1 1 1 NA NA 0.983489435597724 0.999478040629319 NA NA 0.0165105644022765 0.000521959370681113 NA 0.991483738113521 NA 0.0085162618864788 NA FALSE NA 0.001 0.29 NA NA NA NET1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:5429243 NET1 HGNC Symbol protein_coding 45912 ENSG00000173848 ENSE00003616274 intron_variant 0.068132 0.17667 0.10038 0.062308 0.553341032419739 0.122914 0.0668541946676421 FALSE 4.28005e-06 ENSE00001194978_000 ENSE00001194978 000 11 11348601 11348770 - 32 96 42 NA NA NA NA NA TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 NA NA NA NA NA NA TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG natural NA NA NA NA NA 1256 673 0.918466133484228 0.980900025082904 0.949683079283566 NA NA 0.918466133484228 0.980900025082904 NA NA 0 0 NA 0.949683079283566 NA 0 NA FALSE NA NA NA NA NA NA GALNT18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GALNT18 NA NA NA ENSG00000110328 ENSE00001194978 NA NA NA NA NA NA NA 0.0476851755722948 FALSE NA ENSE00001194978_001 ENSE00001194978 001 11 11348601 11348770 - 32 96 42 T A 11348620 369 151 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTATGAGATTCCTGTGCCAGGAG 11327053 11327223 11327072 11327073 11327073 downstr_intron 13 1.41935483870968 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTATGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 200 406 1 1 1 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0815338665157723 0.0190999749170956 NA 0.949683079283566 NA 0.050316920716434 NA FALSE NA 0 0.087 . intron_variant MODIFIER GALNT18 HGNC 30488 ENST00000227756 9/10 1 NA CTT T 8.236e-06 11:11327073 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 intron_variant 2.409897 0.23878 0.01883 0.156188 0.853552652676507 0.297046 0.0476851755722948 FALSE 4.06832e-06 ENSE00001194978_002 ENSE00001194978 002 11 11348601 11348770 - 32 96 42 G C 11348623 370 148 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTGTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327075 11327076 11327076 downstr_intron 10 1.32258064516129 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTGTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 131 166 0.9879026093107 0.996485283222579 0.99219394626664 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0694364758264724 0.015585258139675 NA 0.949683079283566 NA 0.0425108669830737 NA FALSE NA 0.001 0.315 . intron_variant MODIFIER GALNT18 HGNC 30488 ENST00000227756 9/10 rs373282244 1 NA C:0.0002 C:0.0001 AGA G 8.236e-05 11:11327076 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 intron_variant 1.916335 0.29664 0.28535 0.156188 0.790041991745558 0.314859 0.0476851755722948 FALSE 9.76388e-05 ENSE00001194978_003 ENSE00001194978 003 11 11348601 11348770 - 32 96 42 G A 11348625 371 146 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCTTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327077 11327078 11327078 downstr_intron 8 1.25806451612903 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCTTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 95 333 0.984768508193402 0.982660086173415 0.983714297183409 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0663023747091747 0.00176006109051063 NA 0.949683079283566 NA 0.0340312178998426 NA FALSE NA 0 -0.008 . splice_region_variant&intron_variant LOW GALNT18 HGNC 30488 ENST00000227756 9/10 1 NA AGG G 8.236e-06 11:11327078 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 splice_region_variant 1.549386 0.2458 0.0739 0.156188 0.721899887876349 0.401295 0.0476851755722948 FALSE 2.03388e-05 ENSE00001194978_004 ENSE00001194978 004 11 11348601 11348770 - 32 96 42 C T 11348639 372 132 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACACCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327091 11327092 11327092 exon -7 0.9375 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACACCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 357 33 0.997906368741482 0.998838359799461 0.998372364270471 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0794402352572539 0.0179383347165566 NA 0.949683079283566 NA 0.0486892849869052 NA FALSE NA 0 -3.347 . synonymous_variant LOW GALNT18 HGNC 30488 ENST00000227756 9/11 1 NA GCG C 9.06e-05 11:11327092 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 synonymous_variant 1.842353 0.05732 0.00949 0.693126 0.506988052449443 0 0.0476851755722948 FALSE 9.35043e-05 ENSE00001194978_006 ENSE00001194978 006 11 11348601 11348770 - 32 96 42 C G 11348646 374 125 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGCGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327098 11327099 11327099 exon -14 0.864583333333333 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGCGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 253 164 0.99934753051909 1 0.999673765259545 NA NA 0.918466133484228 0.980900025082904 NA NA 0.080881397034862 0.0190999749170956 NA 0.949683079283566 NA 0.0499906859759788 NA FALSE NA 1 7.432 . missense_variant MODERATE GALNT18 HGNC 30488 ENST00000227756 9/11 rs537570994 1 tolerated(0.36) probably_damaging(0.994) NA CCC C 3.295e-05 11:11327099 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 missense_variant 5.404582 0.9957 0.99195 0.693126 0.998254931829008 0 0.0476851755722948 FALSE 1.62554e-05 ENSE00001194978_009 ENSE00001194978 009 11 11348601 11348770 - 32 96 42 T C 11348656 377 115 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACGTCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327108 11327109 11327109 exon -24 0.760416666666667 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACGTCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 1934 86 0.962182179141837 0.942621265750034 0.952401722445936 NA NA 0.918466133484228 0.980900025082904 NA NA 0.043716045657609 -0.0382787593328701 NA 0.949683079283566 NA 0.00271864316236947 NA FALSE NA 1 2.557 . missense_variant MODERATE GALNT18 HGNC 30488 ENST00000227756 9/11 COSM686331 1 tolerated(0.48) benign(0.062) NA ATG T 8.236e-06 11:11327109 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 missense_variant 1.317329 0.97771 0.91455 0.693126 0.929418980218082 0 0.0476851755722948 FALSE 8.12519e-06 ENSE00001194978_010 ENSE00001194978 010 11 11348601 11348770 - 32 96 42 C G 11348660 378 111 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATCTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327112 11327113 11327113 exon -28 0.71875 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATCTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 157 158 1 1 1 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0815338665157723 0.0190999749170956 NA 0.949683079283566 NA 0.050316920716434 NA FALSE NA 1 1.799 rs144034068 missense_variant MODERATE GALNT18 HGNC 30488 ENST00000227756 9/11 rs144034068 1 deleterious(0.03) benign(0.038) G:0.0006 G:0.0008 G:0 NA G:0 G:0.001 G:0.001 G:0.0011 G:0.0041 ACA C 0.002224 11:11327113 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 missense_variant 2.888804 0.98212 0.89946 0.693126 0.955162813995177 0 0.0476851755722948 FALSE 0.00220595 ENSE00001194978_011 ENSE00001194978 011 11 11348601 11348770 - 32 96 42 G A 11348669 379 102 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTTCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327121 11327122 11327122 exon -37 0.625 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTTCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 40 354 0.959312302002127 0.995505877455593 0.97740908972886 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0408461685178997 0.0146058523726887 NA 0.949683079283566 NA 0.0277260104452942 NA FALSE NA 0.996 0.468 rs17435705 synonymous_variant LOW GALNT18 HGNC 30488 ENST00000227756 9/11 rs17435705 1 A:0.0443 A:0.003 A:0.0389 NA A:0.002 A:0.1014 A:0.089 A:0.0186 A:0.0881 GGA G 0.075 11:11327122 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 synonymous_variant 1.147241 0.95858 0.54595 0.706548 0.674460968633243 0 0.0476851755722948 FALSE 0.07656 ENSE00001194978_012 ENSE00001194978 012 11 11348601 11348770 - 32 96 42 C G 11348675 380 96 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGACAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327127 11327128 11327128 exon -43 0.5625 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGACAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant 29 10 0.85 0.85 0.85 1012 867 0.970249298990395 0.967294183526102 0.968771741258248 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0517831655061672 -0.0136058415568028 NA 0.949683079283566 NA 0.0190886619746822 NA FALSE NA 1 0.449 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:11327128 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 missense_variant 1.73919 0.97075 0.70641 0.706548 0.953013587936749 0 0.0476851755722948 FALSE 1.21855e-05 ENSE00001194978_013 ENSE00001194978 013 11 11348601 11348770 - 32 96 42 C T 11348675 381 96 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAAAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327127 11327128 11327128 exon -43 0.5625 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAAAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 224 555 0.99569625508471 0.998267090813646 0.996981672949178 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0772301216004824 0.0173670657307419 NA 0.949683079283566 NA 0.0472985936656121 NA FALSE NA 1 0.449 NA NA NA GALNT18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GALNT18 NA NA NA ENSG00000110328 ENSE00001194978 synonymous_variant 1.977557 0.97078 0.72753 0.706548 0.633788699543007 0 0.0476851755722948 FALSE 4.06184e-06 ENSE00001194978_015 ENSE00001194978 015 11 11348601 11348770 - 32 96 42 G T 11348686 383 85 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGACAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327138 11327139 11327139 exon 43 0.447916666666667 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGACAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 369 84 0.824860882135248 0.8 0.812430441067624 NA NA 0.918466133484228 0.980900025082904 NA NA -0.0936052513489798 -0.180900025082904 NA 0.949683079283566 NA -0.137252638215942 NA FALSE NA 1 7.487 . missense_variant MODERATE GALNT18 HGNC 30488 ENST00000227756 9/11 1 deleterious(0.02) possibly_damaging(0.777) NA GGC G 8.236e-06 11:11327139 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 missense_variant 6.057262 0.99412 0.98388 0.706548 0.997703133230967 0 0.0476851755722948 FALSE 8.124e-06 ENSE00001194978_017 ENSE00001194978 017 11 11348601 11348770 - 32 96 42 A G 11348704 385 67 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATCTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327156 11327157 11327157 exon 25 0.260416666666667 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATCTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 36 69 0.958192688094797 0.95 0.954096344047399 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0397265546105697 -0.0309000250829045 NA 0.949683079283566 NA 0.00441326476383264 NA FALSE NA 0.998 1.391 . synonymous_variant LOW GALNT18 HGNC 30488 ENST00000227756 9/11 1 NA AAA A 8.236e-06 11:11327157 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 synonymous_variant 0.574526 0.96597 0.68607 0.706548 0.744411470600309 0 0.0476851755722948 FALSE 4.06194e-06 ENSE00001194978_018 ENSE00001194978 018 11 11348601 11348770 - 32 96 42 A T 11348705 386 66 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGAATTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327157 11327158 11327158 exon 24 0.25 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGAATTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 732 837 1 0.991633250166895 0.995816625083448 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0815338665157723 0.0107332250839908 NA 0.949683079283566 NA 0.0461335457998815 NA FALSE NA 0.992 0.475 . missense_variant MODERATE GALNT18 HGNC 30488 ENST00000227756 9/11 1 tolerated(0.21) benign(0.037) NA AAT A 8.236e-06 11:11327158 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 missense_variant 2.176271 0.96075 0.76946 0.706548 0.994879555005373 0 0.0476851755722948 FALSE 4.0619e-06 ENSE00001194978_020 ENSE00001194978 020 11 11348601 11348770 - 32 96 42 C G 11348711 388 60 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAACACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327163 11327164 11327164 exon 18 0.1875 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAACACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 42 1187 0.870526056536674 0.797333947385586 0.83393000196113 NA NA 0.918466133484228 0.980900025082904 NA NA -0.047940076947554 -0.183566077697319 NA 0.949683079283566 NA -0.115753077322436 NA FALSE NA 1 3.387 NA NA NA GALNT18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:11327164 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 missense_variant 5.216528 0.98661 0.92749 0.719381 0.998077152764099 0 0.0476851755722948 FALSE 4.0622e-06 ENSE00001194978_022 ENSE00001194978 022 11 11348601 11348770 - 32 96 42 C T 11348723 390 48 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAAAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327175 11327176 11327176 exon 6 0.0625 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAAAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 107 355 0.982836711439434 0.980508668689631 0.981672690064532 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0643705779552058 -0.00039135639327359 NA 0.949683079283566 NA 0.0319896107809661 NA FALSE NA 1 2.931 . synonymous_variant LOW GALNT18 HGNC 30488 ENST00000227756 9/11 1 NA TCT C 8.236e-06 11:11327176 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 synonymous_variant 1.694431 0.9832 0.87403 0.719381 0.696104358221079 0 0.0476851755722948 FALSE 4.06263e-06 ENSE00001194978_023 ENSE00001194978 023 11 11348601 11348770 - 32 96 42 G T 11348725 391 46 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGAAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG 11327053 11327223 11327177 11327178 11327178 exon 4 0.0416666666666667 TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGAAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG TTCCTCTCTCTTTGGTGTGGCCATCTGTTCTCTGATGTTCAGCTGCAGAATTCTCTGAAGACTGATTTGTGTCTTGACCAGGGGCCAGATACAGAGAATGTCCCCATCATGTACATCTGCCATGGGATGACGCCTCAGGTGAGTCCTCTAAGAGATTCCTGTGCCAGGAG mutant NA NA NA NA NA 34 128 0.971794291753223 1 0.985897145876611 NA NA 0.918466133484228 0.980900025082904 NA NA 0.0533281582689954 0.0190999749170956 NA 0.949683079283566 NA 0.0362140665930455 NA FALSE NA 1 5.681 . missense_variant MODERATE GALNT18 HGNC 30488 ENST00000227756 9/11 1 tolerated(1) benign(0.002) NA TGC G 8.236e-06 11:11327178 GALNT18 HGNC Symbol protein_coding 351129 ENSG00000110328 ENSE00001194978 missense_variant 1.497705 0.98605 0.909 0.719381 0.9503336335133 0 0.0476851755722948 FALSE 4.06312e-06 ENSE00001195785_000 ENSE00001195785 000 X 10491100 10491269 - 32 96 42 NA NA NA NA NA GCAGAATAATATTTTTCCTCTTTTTTTTTTTTTTTTGAACAGCAAAACTTAGAGAGTAACCTCACCAACCTTATTAAGAGGAACACAGAACTGGAGACCCTTTTGGCTAAACTCATCCAAACCTGTCAACATGTTGAAGTGAGTATCTCTGTATTTCTGTATGGTATGTT 10523059 10523229 NA NA NA NA NA NA GCAGAATAATATTTTTCCTCTTTTTTTTTTTTTTTTGAACAGCAAAACTTAGAGAGTAACCTCACCAACCTTATTAAGAGGAACACAGAACTGGAGACCCTTTTGGCTAAACTCATCCAAACCTGTCAACATGTTGAAGTGAGTATCTCTGTATTTCTGTATGGTATGTT GCAGAATAATATTTTTCCTCTTTTTTTTTTTTTTTTGAACAGCAAAACTTAGAGAGTAACCTCACCAACCTTATTAAGAGGAACACAGAACTGGAGACCCTTTTGGCTAAACTCATCCAAACCTGTCAACATGTTGAAGTGAGTATCTCTGTATTTCTGTATGGTATGTT natural NA NA NA NA NA 12 10 0.983226636098373 0.987701708400747 0.98546417224956 NA NA 0.983226636098373 0.987701708400747 NA NA 0 0 NA 0.98546417224956 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001195785 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00001195914_000 ENSE00001195914 000 4 4422552 4422721 - 39 81 50 NA NA NA NA NA TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 NA NA NA NA NA NA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA natural NA NA NA NA NA 2690 1683 0.993762244904961 0.892640053490383 0.943201149197672 NA NA 0.993762244904961 0.892640053490383 NA NA 0 0 NA 0.943201149197672 NA 0 NA FALSE NA NA NA NA NA NA NSG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STX18 NA NA NA ENSG00000168818 ENSE00003487155 NA NA NA NA NA NA NA 1.16778720480768e-06 FALSE NA ENSE00001195914_003 ENSE00001195914 003 4 4422552 4422721 - 39 81 50 C T 4422564 193 158 TGCGCCACGTCGTACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420836 4420837 4420837 downstr_intron 27 1.71052631578947 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTACGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 993 666 0.997794757851396 1 0.998897378925698 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00403251294643492 0.107359946509617 NA 0.943201149197672 NA 0.0556962297280259 NA FALSE NA 0 -1.588 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA GCA C,T 8.236e-06 4:4420837 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 non_coding_transcript_exon_variant 0.169105 0.11252 0.01524 0.156188 0.847337024264978 0.046875 1.16778720480768e-06 FALSE 4.06441e-06 ENSE00001195914_004 ENSE00001195914 004 4 4422552 4422721 - 39 81 50 T C 4422577 194 145 TGCGCCACGTCGCACCTGGGGAACCCAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420849 4420850 4420850 downstr_intron 14 1.36842105263158 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTGGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 1816 367 0.997517356768944 1 0.998758678384472 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00375511186398247 0.107359946509617 NA 0.943201149197672 NA 0.0555575291867997 NA FALSE NA 0 -0.298 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA CTA T,C 8.236e-06 4:4420850 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 non_coding_transcript_exon_variant -0.203592 0.05855 0.00064 0.156188 0.273866620669996 0.046875 1.16778720480768e-06 FALSE 2.03127e-05 ENSE00001195914_006 ENSE00001195914 006 4 4422552 4422721 - 39 81 50 T G 4422599 196 123 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTAGGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420871 4420872 4420872 exon -9 0.901234567901235 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACCTAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 493 118 0.994444515982705 1 0.997222257991352 NA NA 0.993762244904961 0.892640053490383 NA NA 0.000682271077743546 0.107359946509617 NA 0.943201149197672 NA 0.0540211087936802 NA FALSE NA 1 5.242 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA ATG T,G 1.647e-05 4:4420872 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 missense_variant 2.804694 0.98456 0.95601 0.706548 0.979213138763607 0 1.16778720480768e-06 FALSE 8.12269e-06 ENSE00001195914_007 ENSE00001195914 007 4 4422552 4422721 - 39 81 50 G A 4422600 197 122 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATATCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420872 4420873 4420873 exon -10 0.888888888888889 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGATATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 387 341 1 1 1 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00623775509503888 0.107359946509617 NA 0.943201149197672 NA 0.0567988508023279 NA FALSE NA 1 4.502 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 rs564066418 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGT G,A 8.236e-06 4:4420873 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 synonymous_variant 0.838217 0.9835 0.97096 0.706548 0.790337861972698 0 1.16778720480768e-06 FALSE 4.06138e-06 ENSE00001195914_009 ENSE00001195914 009 4 4422552 4422721 - 39 81 50 T G 4422608 199 114 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTGGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420880 4420881 4420881 exon -18 0.790123456790123 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCCACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 997 117 0.996675117179797 0.901800858473852 0.949237987826824 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00291287227483572 0.00916080498346883 NA 0.943201149197672 NA 0.00603683862915227 NA FALSE NA 1 5.283 NA NA NA NSG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:4420881 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 missense_variant 5.385891 0.98529 0.98869 0.732398 0.994970802400729 0 1.16778720480768e-06 FALSE 4.06131e-06 ENSE00001195914_010 ENSE00001195914 010 4 4422552 4422721 - 39 81 50 T C 4422625 200 97 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTCCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420897 4420898 4420898 exon -35 0.580246913580247 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGGAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 153 150 1 1 1 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00623775509503888 0.107359946509617 NA 0.943201149197672 NA 0.0567988508023279 NA FALSE NA 1 5.298 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA TTC T,C 8.236e-06 4:4420898 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 missense_variant 4.073949 0.98421 0.97132 0.732398 0.997640119748997 0 1.16778720480768e-06 FALSE 4.06124e-06 ENSE00001195914_011 ENSE00001195914 011 4 4422552 4422721 - 39 81 50 A T 4422627 201 95 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCTGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420899 4420900 4420900 exon -37 0.555555555555556 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACAGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 552 599 0.994964734537372 0.99670195257911 0.995833343558241 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00120248963241132 0.104061899088727 NA 0.943201149197672 NA 0.0526321943605693 NA FALSE NA 0.005 -1.206 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA CAG A,T 8.236e-06 4:4420900 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 synonymous_variant -0.327084 0.96101 0.07686 0.732398 0.843459103246745 0 1.16778720480768e-06 FALSE NA ENSE00001195914_012 ENSE00001195914 012 4 4422552 4422721 - 39 81 50 A G 4422639 202 83 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACGACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420911 4420912 4420912 exon 33 0.407407407407407 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTCGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 846 71 0.998679139689384 0.995518612015044 0.997098875852214 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00491689478442281 0.102878558524661 NA 0.943201149197672 NA 0.0538977266545418 NA FALSE NA 0.003 -1.029 rs78009751 downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 rs78009751 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0001 CAA A,G 4.942e-05 4:4420912 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 synonymous_variant 0.446023 0.88352 0.1841 0.732398 0.864324650238754 0 1.16778720480768e-06 FALSE 3.24878e-05 ENSE00001195914_013 ENSE00001195914 013 4 4422552 4422721 - 39 81 50 C G 4422645 203 77 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAAGTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420917 4420918 4420918 exon 27 0.333333333333333 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCACTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 1659 176 0.982438155687161 0.99910034190481 0.990769248795986 NA NA 0.993762244904961 0.892640053490383 NA NA -0.0113240892178 0.106460288414427 NA 0.943201149197672 NA 0.0475680995983134 NA FALSE NA 1 2.143 rs145159636 downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 rs145159636 1 NA G:0 G:0.0001 ACT C,G 4.118e-05 4:4420918 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 missense_variant 2.48597 0.9767 0.97885 0.732398 0.990268389685196 0 1.16778720480768e-06 FALSE 5.68565e-05 ENSE00001195914_015 ENSE00001195914 015 4 4422552 4422721 - 39 81 50 G A 4422648 205 74 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGATGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420920 4420921 4420921 exon 24 0.296296296296296 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCATCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 894 92 0.941763254946058 0.999585263958169 0.970674259452113 NA NA 0.993762244904961 0.892640053490383 NA NA -0.0519989899589032 0.106945210467786 NA 0.943201149197672 NA 0.0274731102544413 NA FALSE NA 1 2.142 rs146257510 downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 rs146257510 1 A:0.0034 A:0.0121 A:0.0014 NA A:0 A:0 A:0 A:0.0086 A:0 GGT G,A 0.0008566 4:4420921 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 synonymous_variant 0.764005 0.97577 0.8429 0.732398 0.787805397932563 0 1.16778720480768e-06 FALSE 0.00067825 ENSE00001195914_016 ENSE00001195914 016 4 4422552 4422721 - 39 81 50 G A 4422654 206 68 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATACTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420926 4420927 4420927 exon 18 0.222222222222222 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGTATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 268 67 1 1 1 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00623775509503888 0.107359946509617 NA 0.943201149197672 NA 0.0567988508023279 NA FALSE NA 0.992 2.004 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA TGC G,A 3.295e-05 4:4420927 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 synonymous_variant 1.286252 0.96657 0.77599 0.732398 0.782364127986369 0 1.16778720480768e-06 FALSE 2.43685e-05 ENSE00001195914_018 ENSE00001195914 018 4 4422552 4422721 - 39 81 50 A G 4422660 208 62 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCGATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420932 4420933 4420933 exon 12 0.148148148148148 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATCGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 800 449 0.934265204063794 0.987010098966103 0.960637651514949 NA NA 0.993762244904961 0.892640053490383 NA NA -0.0594970408411667 0.0943700454757203 NA 0.943201149197672 NA 0.0174365023172768 NA FALSE NA 0.91 0.094 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA CAA A,G 2.471e-05 4:4420933 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 synonymous_variant 0.731219 0.9625 0.83547 0.732398 0.800437890614811 0 1.16778720480768e-06 FALSE 2.03056e-05 ENSE00001195914_021 ENSE00001195914 021 4 4422552 4422721 - 39 81 50 A T 4422684 211 38 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAATGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420956 4420957 4420957 upstr_intron -13 -0.24 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCATTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 446 267 1 0.999407207432346 0.999703603716173 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00623775509503888 0.106767153941963 NA 0.943201149197672 NA 0.0565024545185009 NA FALSE NA 0.005 4.05 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA AAG A,T 8.237e-06 4:4420957 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.366519 0.23815 0.03349 0.099367 0.84866543050131 0.122059 1.16778720480768e-06 FALSE 4.06316e-06 ENSE00001195914_022 ENSE00001195914 022 4 4422552 4422721 - 39 81 50 G C 4422685 212 37 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAACATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420957 4420958 4420958 upstr_intron -14 -0.26 AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATGTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 56 1170 1 1 1 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00623775509503888 0.107359946509617 NA 0.943201149197672 NA 0.0567988508023279 NA FALSE NA 0 0.081 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA AGA G,C 8.237e-06 4:4420958 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.250477 0.61751 0.05239 0.099367 0.743072564802361 0.0469094 1.16778720480768e-06 FALSE 4.06352e-06 ENSE00001195914_023 ENSE00001195914 023 4 4422552 4422721 - 39 81 50 T C 4422691 213 31 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAACACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420963 4420964 4420964 upstr_intron -20 -0.38 AGGTTTTTGGATAAAGGATACTCAACTTGTGTTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 1455 478 0.961984115524745 0.99749305493098 0.979738585227862 NA NA 0.993762244904961 0.892640053490383 NA NA -0.0317781293802162 0.104853001440597 NA 0.943201149197672 NA 0.0365374360301903 NA FALSE NA 0 -1.837 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA ATA T,C 8.237e-06 4:4420964 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.281013 0.08905 0.00522 0.099367 0.823608020796502 0.046875 1.16778720480768e-06 FALSE 8.1283e-06 ENSE00001195914_024 ENSE00001195914 024 4 4422552 4422721 - 39 81 50 A G 4422692 214 30 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATGCAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420964 4420965 4420965 upstr_intron -21 -0.4 AGGTTTTTGGATAAAGGATACTCAACTTGCATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 645 266 0.999488449473832 0.98849487480139 0.993991662137611 NA NA 0.993762244904961 0.892640053490383 NA NA 0.0057262045688713 0.0958548213110073 NA 0.943201149197672 NA 0.0507905129399393 NA FALSE NA 0 -0.2 rs139298304 downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 rs139298304 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0027 G:0 TAC A,G 0.00028 4:4420965 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.558166 0.10702 0.00395 0.099367 0.812607205680006 0.046875 1.16778720480768e-06 FALSE 0.000223535 ENSE00001195914_025 ENSE00001195914 025 4 4422552 4422721 - 39 81 50 C T 4422693 215 29 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATATAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420965 4420966 4420966 upstr_intron -22 -0.42 AGGTTTTTGGATAAAGGATACTCAACTTATATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 67 96 1 0.961931495022862 0.980965747511431 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00623775509503888 0.0692914415324793 NA 0.943201149197672 NA 0.0377645983137591 NA FALSE NA 0.002 -0.228 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA ACA C,T 8.237e-06 4:4420966 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.574779 0.10792 0.004 0.099367 0.831793957150565 0.046875 1.16778720480768e-06 FALSE 4.06491e-06 ENSE00001195914_026 ENSE00001195914 026 4 4422552 4422721 - 39 81 50 A C 4422695 216 27 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACACGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420967 4420968 4420968 upstr_intron -24 -0.46 AGGTTTTTGGATAAAGGATACTCAACGTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 146 246 0.911889959493226 1 0.955944979746613 NA NA 0.993762244904961 0.892640053490383 NA NA -0.0818722854117355 0.107359946509617 NA 0.943201149197672 NA 0.0127438305489407 NA FALSE NA 0.017 0.757 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA AAG A,C 8.237e-06 4:4420968 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.419696 0.1008 0.01138 0.099367 0.752179068315708 0.046875 1.16778720480768e-06 FALSE 4.0656e-06 ENSE00001195914_027 ENSE00001195914 027 4 4422552 4422721 - 39 81 50 G T 4422696 217 26 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAATTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420968 4420969 4420969 upstr_intron -25 -0.48 AGGTTTTTGGATAAAGGATACTCAAATTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 3883 2231 0.999245077420378 0.948333874203421 0.973789475811899 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00548283251541704 0.0556938207130374 NA 0.943201149197672 NA 0.0305883266142272 NA FALSE NA 0.011 0.454 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA AGT G,T 8.237e-06 4:4420969 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant -0.29051 0.10696 0.03108 0.099367 0.668708341015954 0.046875 1.16778720480768e-06 FALSE 4.0663e-06 ENSE00001195914_028 ENSE00001195914 028 4 4422552 4422721 - 39 81 50 T A 4422698 218 24 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTAGAGTATCCTTTATCCAAAAACCT 4420824 4420994 4420970 4420971 4420971 upstr_intron -27 -0.52 AGGTTTTTGGATAAAGGATACTCTACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 476 1433 0.99316905916739 0.999973438245768 0.996571248706579 NA NA 0.993762244904961 0.892640053490383 NA NA -0.000593185737571278 0.107333384755385 NA 0.943201149197672 NA 0.053370099508907 NA FALSE NA 0.028 2.741 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA TTG T,A 8.237e-06 4:4420971 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.356828 0.15345 0.08292 0.099367 0.671036960857766 0.046875 1.16778720480768e-06 FALSE NA ENSE00001195914_029 ENSE00001195914 029 4 4422552 4422721 - 39 81 50 C A 4422705 219 17 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATACTTTATCCAAAAACCT 4420824 4420994 4420977 4420978 4420978 upstr_intron -34 -0.66 AGGTTTTTGGATAAAGTATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 224 734 1 0.94024775787614 0.97012387893807 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00623775509503888 0.0476077043857568 NA 0.943201149197672 NA 0.0269227297403978 NA FALSE NA 0 -0.394 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA TCC C,A 1.647e-05 4:4420978 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.259831 0.09823 0.00163 0.099367 0.661566772383884 0.046875 1.16778720480768e-06 FALSE 2.44431e-05 ENSE00001195914_030 ENSE00001195914 030 4 4422552 4422721 - 39 81 50 C A 4422706 220 16 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCATTTATCCAAAAACCT 4420824 4420994 4420978 4420979 4420979 upstr_intron -35 -0.68 AGGTTTTTGGATAAATGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 303 237 1 1 1 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00623775509503888 0.107359946509617 NA 0.943201149197672 NA 0.0567988508023279 NA FALSE NA 0 -0.236 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:4420979 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant -0.023738 0.0839 0.0111 0.099367 0.751498286605227 0.046875 1.16778720480768e-06 FALSE 2.03744e-05 ENSE00001195914_031 ENSE00001195914 031 4 4422552 4422721 - 39 81 50 C G 4422706 221 16 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCGTTTATCCAAAAACCT 4420824 4420994 4420978 4420979 4420979 upstr_intron -35 -0.68 AGGTTTTTGGATAAACGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 312 651 0.970453694781127 1 0.985226847390564 NA NA 0.993762244904961 0.892640053490383 NA NA -0.0233085501238337 0.107359946509617 NA 0.943201149197672 NA 0.0420256981928916 NA FALSE NA 0 -0.236 NA NA NA NSG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STX18 NA NA NA ENSG00000168818 ENSE00003487155 intron_variant -0.215211 0.08857 0.00633 0.099367 0.658116985005303 0.046875 1.16778720480768e-06 FALSE 4.07488e-06 ENSE00001195914_032 ENSE00001195914 032 4 4422552 4422721 - 39 81 50 T C 4422708 222 14 TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTACCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCCTGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTCTATCCAAAAACCT 4420824 4420994 4420980 4420981 4420981 upstr_intron -37 -0.72 AGGTTTTTGGATAGAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA mutant NA NA NA NA NA 645 121 0.998910258795686 0.871287161789438 0.935098710292562 NA NA 0.993762244904961 0.892640053490383 NA NA 0.00514801389072528 -0.0213528917009449 NA 0.943201149197672 NA -0.00810243890510981 NA FALSE NA 0 0.03 . downstream_gene_variant MODIFIER NSG1 Uniprot_gn NA ENST00000504171 1 NA TTT T,C 8.237e-06 4:4420981 STX18 HGNC Symbol protein_coding 126604 ENSG00000168818 ENSE00003487155 intron_variant 0.05412 0.11922 0.00174 0.099367 0.764641277492091 0.046875 1.16778720480768e-06 FALSE 4.07628e-06 ENSE00001195914_BRK ENSE00001195914 BRK 4 4422552 4422721 - 39 81 50 A,G; T,T NA NA NA TGCGCCACGTCGCACCTGGGGAACCTAAACAGTGCCTGGCTCTCTTATGTCTTCGTTGCCTTCCTTGATATTTTCAGTTGCCCCCACAACTAACTGGTGAATGCTGTCAATCTCAGCTTCAAGTGGAAGAAAAGATAAATACAAGTTGAGTATCCTTTATCCAAAAACCT 4420824 4420994 NA NA NA NA NA NA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACTTGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGCCAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA AGGTTTTTGGATAAAGGATACTCAACTTGTATTTATCTTTTCTTCCACAGGAAGCTGAGATTGACAGCATTCACCAGTTAGTTGTGGGGGCAACTGAAAATATCAAGGAAGGCAACGAAGACATAAGAGAGGTAGGCACTGTTTAGGTTCCCCAGGTGCGACGTGGCGCA control NA NA NA NA NA 563 1467 0.0120081993128185 0 0.00600409965640923 NA NA 0.993762244904961 0.892640053490383 NA NA -0.981754045592143 -0.892640053490383 NA 0.943201149197672 NA -0.937197049541263 NA TRUE NA NA NA NA NA NA NSG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STX18 NA NA NA ENSG00000168818 ENSE00003487155 NA NA NA NA NA NA NA 1.16778720480768e-06 FALSE NA ENSE00001196735_000 ENSE00001196735 000 4 88011089 88011258 + 47 87 36 NA NA NA NA NA TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 NA NA NA NA NA NA TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC natural NA NA NA NA NA 3574 357 0.972811481032269 0.992405579890717 0.982608530461493 NA NA 0.972811481032269 0.992405579890717 NA NA 0 0 NA 0.982608530461493 NA 0 NA FALSE NA NA NA NA NA NA AFF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFF1 NA NA NA ENSG00000172493 ENSE00003671139 NA NA NA NA NA NA NA 0.47664697267645 FALSE NA ENSE00001196735_003 ENSE00001196735 003 4 88011089 88011258 + 47 87 36 C T 88011111 887 23 TTCTATTTATAATTTACTTTTTTTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87089958 87089959 87089959 upstr_intron -25 -0.51063829787234 TTCTATTTATAATTTACTTTTTTTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 220 76 0.990750368834562 1 0.995375184417281 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0179388878022929 0.00759442010928335 NA 0.982608530461493 NA 0.0127666539557881 NA FALSE NA 0.025 0.739 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA TCT C,T 8.237e-06 4:87089959 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 intron_variant 0.478205 0.22653 0.28463 0.295142 0.644636254889893 0.631571 0.47664697267645 FALSE 1.2294e-05 ENSE00001196735_004 ENSE00001196735 004 4 88011089 88011258 + 47 87 36 C T 88011120 888 32 TTCTATTTATAATTTACTTTTTCTTCCCTTTTCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87089967 87089968 87089968 upstr_intron -16 -0.319148936170213 TTCTATTTATAATTTACTTTTTCTTCCCTTTTCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 325 123 0.997956190949669 0.993896108271784 0.995926149610726 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0251447099173993 0.00149052838106745 NA 0.982608530461493 NA 0.0133176191492334 NA FALSE NA 0.001 0.244 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA TCC C,T 8.236e-06 4:87089968 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 intron_variant 0.654806 0.80202 0.09749 0.295142 0.675965512092319 0.262693 0.47664697267645 FALSE 4.078e-06 ENSE00001196735_005 ENSE00001196735 005 4 88011089 88011258 + 47 87 36 C T 88011145 889 57 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCTATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87089992 87089993 87089993 exon 10 0.114942528735632 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCTATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 34 949 1 0.998998770847024 0.999499385423512 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0271885189677307 0.00659319095630717 NA 0.982608530461493 NA 0.0168908549620189 NA FALSE NA 1 6.186 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA CCA C,T 1.647e-05 4:87089993 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 missense_variant 6.396468 0.94385 0.84768 0.732398 0.998068903913466 0 0.47664697267645 FALSE 8.13888e-06 ENSE00001196735_006 ENSE00001196735 006 4 88011089 88011258 + 47 87 36 T C 88011151 890 63 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCACGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87089998 87089999 87089999 exon 16 0.183908045977011 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCACGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 497 778 0.837766705721488 0.999262865174461 0.918514785447974 NA NA 0.972811481032269 0.992405579890717 NA NA -0.135044775310782 0.00685728528374441 NA 0.982608530461493 NA -0.0640937450135187 NA FALSE NA 1 6.359 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA ATG T,C 8.236e-06 4:87089999 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 missense_variant 6.194357 0.98414 0.9419 0.732398 0.994338902074219 0 0.47664697267645 FALSE 4.06706e-06 ENSE00001196735_007 ENSE00001196735 007 4 88011089 88011258 + 47 87 36 C T 88011155 891 67 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCTGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090002 87090003 87090003 exon 20 0.229885057471264 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCTGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 517 327 0.963216758985109 0.955203832748478 0.959210295866793 NA NA 0.972811481032269 0.992405579890717 NA NA -0.00959472204716083 -0.037201747142239 NA 0.982608530461493 NA -0.0233982345946999 NA FALSE NA 1 6.186 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA CCG C,T 1.647e-05 4:87090003 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 missense_variant 7.598608 0.98654 0.94483 0.732398 0.997888565258893 0 0.47664697267645 FALSE 1.22024e-05 ENSE00001196735_008 ENSE00001196735 008 4 88011089 88011258 + 47 87 36 G A 88011156 892 68 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCACCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090003 87090004 87090004 exon 21 0.241379310344828 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCACCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 59 713 0.910019831135306 0.800887442819203 0.855453636977254 NA NA 0.972811481032269 0.992405579890717 NA NA -0.0627916498969634 -0.191518137071514 NA 0.982608530461493 NA -0.127154893484239 NA FALSE NA 0.035 -1.04 rs143849283 intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 rs143849283 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0002 CGC G,A 0.0005601 4:87090004 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 synonymous_variant 1.325018 0.16254 0.0169 0.732398 0.666431174378243 0 0.47664697267645 FALSE 0.000561501 ENSE00001196735_012 ENSE00001196735 012 4 88011089 88011258 + 47 87 36 C T 88011175 896 87 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATATATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090022 87090023 87090023 exon 40 0.459770114942529 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATATATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 95 1663 1 0.999747873956396 0.999873936978198 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0271885189677307 0.00734229406567921 NA 0.982608530461493 NA 0.0172654065167049 NA FALSE NA 1 4.479 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA ACA C,T 2.471e-05 4:87090023 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 missense_variant 6.428833 0.98687 0.92173 0.732398 0.998170509352173 0 0.47664697267645 FALSE 1.21982e-05 ENSE00001196735_014 ENSE00001196735 014 4 88011089 88011258 + 47 87 36 C T 88011179 898 91 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATATGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090026 87090027 87090027 exon -44 0.505747126436782 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATATGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 188 1450 0.950644786524069 0.805028239033122 0.877836512778595 NA NA 0.972811481032269 0.992405579890717 NA NA -0.0221666945082003 -0.187377340857595 NA 0.982608530461493 NA -0.104772017682898 NA FALSE NA 1 6.183 rs146841231 intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 rs146841231&COSM220364 1 NA T:0.0002 T:0 ACG C,T 1.647e-05 4:87090027 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 missense_variant 7.107647 0.98687 0.94427 0.732398 0.999149147563274 0 0.47664697267645 FALSE 2.43968e-05 ENSE00001196735_015 ENSE00001196735 015 4 88011089 88011258 + 47 87 36 G A 88011180 899 92 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACACCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090027 87090028 87090028 exon -43 0.517241379310345 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACACCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 82 286 0.80317152290606 0.8 0.80158576145303 NA NA 0.972811481032269 0.992405579890717 NA NA -0.16963995812621 -0.192405579890717 NA 0.982608530461493 NA -0.181022769008463 NA FALSE NA 0.86 0.093 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 COSM4126548 1 NA CGC G,A 8.236e-06 4:87090028 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 synonymous_variant 2.233846 0.95452 0.50217 0.732398 0.616921118577061 0 0.47664697267645 FALSE 4.06676e-06 ENSE00001196735_016 ENSE00001196735 016 4 88011089 88011258 + 47 87 36 T C 88011183 900 95 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCCAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090030 87090031 87090031 exon -40 0.551724137931034 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCCAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 183 126 0.966556466681212 1 0.983278233340606 NA NA 0.972811481032269 0.992405579890717 NA NA -0.00625501435105713 0.00759442010928335 NA 0.982608530461493 NA 0.00066970287911311 NA FALSE NA 0.017 -1.086 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 rs376068359 1 NA C:0 C:0.0002 CTA T,C 0.0002141 4:87090031 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 synonymous_variant 0.877384 0.65804 0.04733 0.732398 0.724574544975249 0 0.47664697267645 FALSE 0.000126038 ENSE00001196735_018 ENSE00001196735 018 4 88011089 88011258 + 47 87 36 A G 88011189 902 101 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACGGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090036 87090037 87090037 exon -34 0.620689655172414 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACGGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 15 50 1 1 1 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0271885189677307 0.00759442010928335 NA 0.982608530461493 NA 0.017391469538507 NA FALSE NA 1 1.339 rs58663950 intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 rs58663950 1 G:0.0016 G:0.0061 G:0 NA G:0 G:0 G:0 G:0.0064 G:0 CAG A,G 0.0008566 4:87090037 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 synonymous_variant 0.410362 0.97639 0.79214 0.732398 0.724112722306695 0 0.47664697267645 FALSE 0.000622452 ENSE00001196735_019 ENSE00001196735 019 4 88011089 88011258 + 47 87 36 A G 88011203 903 115 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAGGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090050 87090051 87090051 exon -20 0.781609195402299 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAGGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 332 32 0.997747188794084 1 0.998873594397042 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0249357077618146 0.00759442010928335 NA 0.982608530461493 NA 0.016265063935549 NA FALSE NA 1 5.646 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA AAG A,G 8.236e-06 4:87090051 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 missense_variant 4.767606 0.97623 0.91443 0.732398 0.998162504864996 0 0.47664697267645 FALSE 8.13339e-06 ENSE00001196735_020 ENSE00001196735 020 4 88011089 88011258 + 47 87 36 T C 88011207 904 119 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTCCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090054 87090055 87090055 exon -16 0.827586206896552 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTCCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 583 1095 0.988292650098838 0.881144398095135 0.934718524096986 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0154811690665687 -0.111261181795582 NA 0.982608530461493 NA -0.0478900063645066 NA FALSE NA 1 0.359 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA TTC T,C 9.06e-05 4:87090055 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 synonymous_variant 0.519524 0.95701 0.64625 0.732398 0.655848990434324 0 0.47664697267645 FALSE 4.47347e-05 ENSE00001196735_021 ENSE00001196735 021 4 88011089 88011258 + 47 87 36 T C 88011210 905 122 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCCTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090057 87090058 87090058 exon -13 0.862068965517241 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCCTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 518 1071 0.947844472830043 0.952603184010684 0.950223828420364 NA NA 0.972811481032269 0.992405579890717 NA NA -0.024967008202226 -0.0398023958800325 NA 0.982608530461493 NA -0.0323847020411293 NA FALSE NA 0.93 0.13 rs113502077 intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 rs113502077 1 C:0.0018 C:0.0068 C:0 NA C:0 C:0 C:0 C:0.0036 C:0 CTT T,C 0.000313 4:87090058 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 synonymous_variant 0.161021 0.95079 0.59941 0.732398 0.738892960577987 0 0.47664697267645 FALSE 0.000260302 ENSE00001196735_023 ENSE00001196735 023 4 88011089 88011258 + 47 87 36 A C 88011219 907 131 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACCAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090066 87090067 87090067 exon -4 0.96551724137931 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACCAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 143 462 1 0.999917583689123 0.999958791844561 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0271885189677307 0.00751200379840633 NA 0.982608530461493 NA 0.0173502613830685 NA FALSE NA 0.932 0.486 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA CAA A,C 8.237e-06 4:87090067 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 synonymous_variant -1.238046 0.87067 0.54246 0.732398 0.425549820509332 0 0.47664697267645 FALSE 4.06861e-06 ENSE00001196735_027 ENSE00001196735 027 4 88011089 88011258 + 47 87 36 C T 88011230 911 142 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCTTTAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090077 87090078 87090078 downstr_intron 8 1.22857142857143 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCTTTAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 154 117 1 1 1 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0271885189677307 0.00759442010928335 NA 0.982608530461493 NA 0.017391469538507 NA FALSE NA 0 0.045 rs187382575 intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 rs187382575 1 T:0.0024 T:0 T:0.0029 NA T:0 T:0.0089 T:0.001 T:0.0018 T:0.0074 CCT C,T 0.004991 4:87090078 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 splice_region_variant 0.186344 0.19735 0.02555 0.088506 0.38177612782648 0.0589324 0.47664697267645 FALSE 0.00503994 ENSE00001196735_028 ENSE00001196735 028 4 88011089 88011258 + 47 87 36 T C 88011232 912 144 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTCAAAAGTATGGCAGGCATTGCATCCAC 87089936 87090106 87090079 87090080 87090080 downstr_intron 10 1.28571428571429 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTCAAAAGTATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 199 110 0.991866797329104 1 0.995933398664552 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0190553162968351 0.00759442010928335 NA 0.982608530461493 NA 0.0133248682030592 NA FALSE NA 0 0.265 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA TTA T,C 8.237e-06 4:87090080 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 intron_variant -0.02518 0.23754 0.08469 0.088506 0.571919866161065 0.0589324 0.47664697267645 FALSE 4.07146e-06 ENSE00001196735_030 ENSE00001196735 030 4 88011089 88011258 + 47 87 36 T C 88011238 914 150 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGCATGGCAGGCATTGCATCCAC 87089936 87090106 87090085 87090086 87090086 downstr_intron 16 1.45714285714286 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGCATGGCAGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 120 100 1 1 1 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0271885189677307 0.00759442010928335 NA 0.982608530461493 NA 0.017391469538507 NA FALSE NA 0 -0.037 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 rs200314184 1 NA C:0.0002 C:0.0007 GTA T,C 0.0002224 4:87090086 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 intron_variant 0.035905 0.18716 0.02442 0.088506 0.531800140266358 0.044906 0.47664697267645 FALSE 0.000236303 ENSE00001196735_032 ENSE00001196735 032 4 88011089 88011258 + 47 87 36 A G 88011244 916 156 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCGGGCATTGCATCCAC 87089936 87090106 87090091 87090092 87090092 downstr_intron 22 1.62857142857143 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCGGGCATTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 158 224 0.99789745499846 0.999293306033337 0.998595380515899 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0250859739661909 0.00688772614262079 NA 0.982608530461493 NA 0.0159868500544059 NA FALSE NA 0 0.611 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA CAG A,G 8.237e-06 4:87090092 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 intron_variant 0.303564 0.26552 0.0624 0.088506 0.585211760441844 0.0448725 0.47664697267645 FALSE 1.22278e-05 ENSE00001196735_033 ENSE00001196735 033 4 88011089 88011258 + 47 87 36 A G 88011248 917 160 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCGTTGCATCCAC 87089936 87090106 87090095 87090096 87090096 downstr_intron 26 1.74285714285714 TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCGTTGCATCCAC TTCTATTTATAATTTACTTTTTCTTCCCTTTCCAAATATCTTTCCAGGAAATGACCCATTCATGGCCGCCTCCTTTGACAGCAATACATACGCCTAGTACAGCTGAGCCATCCAAGTTTCCTTTCCCTACAAAGGTAATTCCTTAAAAGTATGGCAGGCATTGCATCCAC mutant NA NA NA NA NA 35 31 1 0.939380899535243 0.969690449767621 NA NA 0.972811481032269 0.992405579890717 NA NA 0.0271885189677307 -0.0530246803554739 NA 0.982608530461493 NA -0.0129180806938716 NA FALSE NA 0 0.171 . intron_variant MODIFIER AFF1 HGNC 7135 ENST00000503477 5/7 1 NA CAT A,G 8.237e-06 4:87090096 AFF1 HGNC Symbol protein_coding 206052 ENSG00000172493 ENSE00003671139 intron_variant 0.048838 0.20396 0.01817 0.088506 0.426222931852181 0.0448725 0.47664697267645 FALSE 8.15794e-06 ENSE00001196926_000 ENSE00001196926 000 5 1272268 1272437 - 32 96 42 NA NA NA NA NA GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 NA NA NA NA NA NA GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG natural 424 768 0.853756565028973 0.85 0.851878282514486 3950 2887 0.834826390855556 0.90670136879508 0.870763879825318 0.853756565028973 0.85 0.834826390855556 0.90670136879508 0 0 0 0 0.851878282514486 0.870763879825318 0 0 0 FALSE FALSE NA NA NA NA NA TERT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TERT NA NA NA ENSG00000164362 ENSE00001196926 NA NA NA NA NA NA NA 0.866151189063377 FALSE NA ENSE00001196926_002 ENSE00001196926 002 5 1272268 1272437 - 32 96 42 C T 1272283 75 155 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTACAGGGTTGGGCACGG 1272152 1272322 1272167 1272168 1272168 downstr_intron 17 1.54838709677419 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTACAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 31 62 0.913311046227839 0.953131076511339 0.933221061369589 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA 0.0784846553722834 0.0464297077162591 0.851878282514486 0.870763879825318 NA 0.0624571815442713 NA FALSE NA 0 -0.391 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA GCA C,T 8.287e-06 5:1272168 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 intron_variant -0.057308 0.10087 0.00486 0.099367 0.460552294237255 0.0867252 0.866151189063377 FALSE 4.4678e-06 ENSE00001196926_003 ENSE00001196926 003 5 1272268 1272437 - 32 96 42 G A 1272306 76 132 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATTGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272190 1272191 1272191 exon -7 0.9375 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATTGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 316 335 0.8 0.8 0.8 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0348263908555556 -0.10670136879508 0.851878282514486 0.870763879825318 NA -0.0707638798253179 NA FALSE NA 0.018 -1.45 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA CGA G,A 4.967e-05 5:1272191 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 synonymous_variant 0.528908 0.86447 0.01881 0.695654 0.535718637336095 0 0.866151189063377 FALSE 4.14271e-05 ENSE00001196926_004 ENSE00001196926 004 5 1272268 1272437 - 32 96 42 C T 1272311 77 127 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCATCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272195 1272196 1272196 exon -12 0.885416666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCATCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 801 115 0.848478619952994 0.785021760963274 0.816750190458134 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA 0.0136522290974385 -0.121679607831806 0.851878282514486 0.870763879825318 NA -0.0540136893671839 NA FALSE NA 0.004 0.241 rs141425941 intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 rs141425941 1 NA T:0 T:0.0004 ACG C,T 0.0001407 5:1272196 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 missense_variant 1.231267 0.82407 0.04989 0.695654 0.985049374774514 0 0.866151189063377 FALSE 8.66001e-05 ENSE00001196926_007 ENSE00001196926 007 5 1272268 1272437 - 32 96 42 C T 1272314 80 124 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCATCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272198 1272199 1272199 exon -15 0.854166666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCATCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 23 36 0.8 0.806974345444394 0.803487172722197 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0348263908555555 -0.0997270233506865 0.851878282514486 0.870763879825318 NA -0.067276707103121 NA FALSE NA 0.618 0.319 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 rs371413388 1 NA T:0.0002 T:0 ACG C,T 8.277e-06 5:1272199 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 missense_variant 1.265765 0.94229 0.18942 0.695654 0.980902492008964 0 0.866151189063377 FALSE 3.70114e-05 ENSE00001196926_010 ENSE00001196926 010 5 1272268 1272437 - 32 96 42 G C 1272328 83 110 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCGGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272212 1272213 1272213 exon -29 0.708333333333333 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCGGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 74 425 0.8 0.8 0.8 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0348263908555556 -0.10670136879508 0.851878282514486 0.870763879825318 NA -0.0707638798253179 NA FALSE NA 0.085 2.677 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 rs483352771&CM096690 1 NA CGG G,C 2.482e-05 5:1272213 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 missense_variant -0.399838 0.21969 0.06363 0.695654 0.143976713245717 0 0.866151189063377 FALSE 1.22796e-05 ENSE00001196926_012 ENSE00001196926 012 5 1272268 1272437 - 32 96 42 G A 1272329 85 109 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCTCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272213 1272214 1272214 exon -30 0.697916666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCTCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 12 65 0.8 0.8 0.8 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0348263908555556 -0.10670136879508 0.851878282514486 0.870763879825318 NA -0.0707638798253178 NA FALSE NA 0.007 0.157 NA NA NA TERT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:1272214 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 missense_variant -1.685414 0.12737 0.00283 0.695654 0.258678513115556 0 0.866151189063377 FALSE 8.1811e-06 ENSE00001196926_013 ENSE00001196926 013 5 1272268 1272437 - 32 96 42 C A 1272336 86 102 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGATACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272220 1272221 1272221 exon -37 0.625 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGATACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 1739 1579 0.795538011035901 0.809422881954115 0.802480446495008 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0392883798196551 -0.0972784868409647 0.851878282514486 0.870763879825318 NA -0.0682834333303099 NA FALSE NA 0 0.074 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA TCT C,A 8.272e-06 5:1272221 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 missense_variant 0.723308 0.54279 0.0441 0.695654 0.976615447500377 0 0.866151189063377 FALSE 4.08761e-06 ENSE00001196926_015 ENSE00001196926 015 5 1272268 1272437 - 32 96 42 G A 1272344 88 94 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACTTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272228 1272229 1272229 exon -45 0.541666666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACTTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 399 713 0.794671879969971 0.8 0.797335939984986 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0401545108855847 -0.10670136879508 0.851878282514486 0.870763879825318 NA -0.0734279398403324 NA FALSE NA 0.967 1.218 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 rs560146437 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G,A 8.272e-06 5:1272229 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 synonymous_variant -0.000618 0.74045 0.39976 0.695654 0.565188646314903 0 0.866151189063377 FALSE 4.08604e-06 ENSE00001196926_017 ENSE00001196926 017 5 1272268 1272437 - 32 96 42 G A 1272347 90 91 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTTACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272231 1272232 1272232 exon -48 0.510416666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTTACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 1517 983 0.812099756619538 0.877338695220943 0.84471922592024 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.022726634236018 -0.0293626735741371 0.851878282514486 0.870763879825318 NA -0.0260446539050775 NA FALSE NA 0.134 2.917 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA TGA G,A 8.273e-06 5:1272232 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 missense_variant 2.150165 0.40502 0.09587 0.695654 0.995252411644474 0 0.866151189063377 FALSE 4.08597e-06 ENSE00001196926_019 ENSE00001196926 019 5 1272268 1272437 - 32 96 42 G A 1272354 92 84 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTTGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272238 1272239 1272239 exon 42 0.4375 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTTGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 127 244 0.8 0.833024782587966 0.816512391293983 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0348263908555556 -0.0736765862071146 0.851878282514486 0.870763879825318 NA -0.0542514885313351 NA FALSE NA 0.067 -0.847 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 COSM1060270&COSM1060271 1 NA CGA G,A 2.482e-05 5:1272239 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 synonymous_variant 0.653187 0.7251 0.02763 0.695654 0.481409764118923 0 0.866151189063377 FALSE 2.45262e-05 ENSE00001196926_020 ENSE00001196926 020 5 1272268 1272437 - 32 96 42 G A 1272362 93 76 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGTGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272246 1272247 1272247 exon 34 0.354166666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGTGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 163 219 0.128205374731895 0.00911074535538568 0.0686580600436405 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.70662101612366 -0.897590623439695 0.851878282514486 0.870763879825318 NA -0.802105819781677 NA TRUE NA 0.101 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:1272247 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 stop_gained 7.125917 0.14581 0.01231 0.695654 0.979429812158542 0 0.866151189063377 FALSE 5.32032e-05 ENSE00001196926_021 ENSE00001196926 021 5 1272268 1272437 - 32 96 42 G T 1272362 94 76 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGAGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272246 1272247 1272247 exon 34 0.354166666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGAGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 205 67 0.801271437634527 0.846677859398499 0.823974648516513 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0335549532210287 -0.0600235093965814 0.851878282514486 0.870763879825318 NA -0.0467892313088051 NA FALSE NA 0.101 0.064 NA NA NA TERT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TERT NA NA NA ENSG00000164362 ENSE00001196926 synonymous_variant 0.041595 0.10815 0.00329 0.695654 0.339921346358824 0 0.866151189063377 FALSE 4.09256e-06 ENSE00001196926_022 ENSE00001196926 022 5 1272268 1272437 - 32 96 42 C T 1272369 95 69 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCATACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272253 1272254 1272254 exon 27 0.28125 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCATACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 27 1583 0.605382199178799 0.710681094635304 0.658031646907052 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.229444191676756 -0.196020274159776 0.851878282514486 0.870763879825318 NA -0.212732232918266 NA FALSE NA 0 -7.975 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 rs199770141 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACG C,T 7.453e-05 5:1272254 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 synonymous_variant 1.367511 0.33631 0.00275 0.695654 0.659120708751732 0 0.866151189063377 FALSE 6.56809e-05 ENSE00001196926_023 ENSE00001196926 023 5 1272268 1272437 - 32 96 42 G A 1272375 96 63 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTTCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272259 1272260 1272260 exon 21 0.21875 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTTCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 343 335 0.8 0.803010451585182 0.801505225792591 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0348263908555556 -0.103690917209898 0.851878282514486 0.870763879825318 NA -0.0692586540327267 NA FALSE NA 0.995 0.405 rs117662357 intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 rs117662357 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGA G,A 1.657e-05 5:1272260 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 synonymous_variant -0.328617 0.94916 0.53524 0.695654 0.540821706958202 0 0.866151189063377 FALSE 8.22497e-06 ENSE00001196926_024 ENSE00001196926 024 5 1272268 1272437 - 32 96 42 T C 1272383 97 55 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGGCAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272267 1272268 1272268 exon 13 0.135416666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGGCAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 179 54 0.8 0.8 0.8 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.0348263908555556 -0.10670136879508 0.851878282514486 0.870763879825318 NA -0.0707638798253179 NA FALSE NA 0 -2.326 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA GTC T,C 8.288e-06 5:1272268 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 missense_variant -2.567343 0.09318 0.00608 0.695654 0.279969757669814 0 0.866151189063377 FALSE 4.15238e-06 ENSE00001196926_025 ENSE00001196926 025 5 1272268 1272437 - 32 96 42 G A 1272401 98 37 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCTGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272285 1272286 1272286 upstr_intron -6 -0.119047619047619 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCTGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 261 75 0.00609822892476033 0.0323271597644725 0.0192126943446164 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA -0.828728161930795 -0.874374209030608 0.851878282514486 0.870763879825318 NA -0.851551185480702 NA TRUE NA 0 0.125 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA CGG G,A 8.293e-06 5:1272286 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 splice_region_variant 0.159048 0.1558 0.02528 0.106106 0.374175104393267 0.228468 0.866151189063377 FALSE 1.6916e-05 ENSE00001196926_026 ENSE00001196926 026 5 1272268 1272437 - 32 96 42 C T 1272403 99 35 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTACCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272287 1272288 1272288 upstr_intron -8 -0.166666666666667 GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTACCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 411 1306 0.912617638582735 0.935279239820983 0.923948439201859 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA 0.0777912477271794 0.028577871025903 0.851878282514486 0.870763879825318 NA 0.0531845593765412 NA FALSE NA 0 -1.661 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA GCA C,T 2.488e-05 5:1272288 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 splice_region_variant 0.068166 0.11904 0.01788 0.106106 0.442150545209848 0.258254 0.866151189063377 FALSE 2.12435e-05 ENSE00001196926_027 ENSE00001196926 027 5 1272268 1272437 - 32 96 42 C A 1272415 100 23 GCAGGCCACATTTGTGGCTCATTCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272299 1272300 1272300 upstr_intron -20 -0.452380952380952 GCAGGCCACATTTGTGGCTCATTCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 36 517 0.957878312773902 0.974462566308934 0.966170439541418 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA 0.123051921918347 0.0677611975138536 0.851878282514486 0.870763879825318 NA 0.0954065597161002 NA FALSE NA 0 -1.312 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA GCA C,A 2.49e-05 5:1272300 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 intron_variant -0.106461 0.15111 0.0071 0.106106 0.796202375967594 0.0592107 0.866151189063377 FALSE 1.32649e-05 ENSE00001196926_028 ENSE00001196926 028 5 1272268 1272437 - 32 96 42 G A 1272420 101 18 GCAGGCCACATTTGTGGTTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 1272304 1272305 1272305 upstr_intron -25 -0.571428571428571 GCAGGCCACATTTGTGGTTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG mutant NA NA NA NA NA 164 125 0.835754842969274 0.804029689920615 0.819892266444945 0.853756565028973 0.85 0.834826390855556 0.90670136879508 NA NA 0.000928452113718836 -0.102671678874465 0.851878282514486 0.870763879825318 NA -0.050871613380373 NA FALSE NA 0.009 1.255 . intron_variant MODIFIER TERT HGNC 11730 ENST00000296820 6/13 1 NA AGC G,A 8.3e-06 5:1272305 TERT HGNC Symbol protein_coding 41922 ENSG00000164362 ENSE00001196926 intron_variant 0.186133 0.23596 0.00804 0.106106 0.805917119145011 0.0448832 0.866151189063377 FALSE NA ENSE00001196926_BRK ENSE00001196926 BRK 5 1272268 1272437 - 32 96 42 A,G; T,T NA NA NA GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCTTGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGCCCTGGGCACTGCCCTGCAGGGTTGGGCACGG 1272152 1272322 NA NA NA NA NA NA GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCTTGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGCCCTGGGCACTGCCCTGCAGGGTTGGGCACGG GCAGGCCACATTTGTGGCTCATGCCCTCTCCTCTGCCGGCAGGTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTGCAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAGGTCTGGGCACTGCCCTGCAGGGTTGGGCACGG control 122 77 0.0319799231341531 0 0.0159899615670765 917 654 0.0212724641315968 0 0.0106362320657984 0.853756565028973 0.85 0.834826390855556 0.90670136879508 -0.821776641894819 -0.85 -0.813553926723959 -0.90670136879508 0.851878282514486 0.870763879825318 -0.83588832094741 -0.86012764775952 0.0242393268121098 TRUE TRUE NA NA NA NA NA TERT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TERT NA NA NA ENSG00000164362 ENSE00001196926 NA NA NA NA NA NA NA 0.866151189063377 FALSE NA ENSE00001197033_000 ENSE00001197033 000 12 20709529 20709698 + 65 51 54 NA NA NA NA NA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 NA NA NA NA NA NA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA natural NA NA NA NA NA 743 453 1 0.991124731517994 0.995562365758997 NA NA 1 0.991124731517994 NA NA 0 0 NA 0.995562365758997 NA 0 NA FALSE NA NA NA NA NA NA PDE3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE3A NA NA NA ENSG00000172572 ENSE00001197033 NA NA NA NA NA NA NA 0.106612095996096 FALSE NA ENSE00001197033_001 ENSE00001197033 001 12 20709529 20709698 + 65 51 54 C T 20709562 724 34 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATTATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556627 20556628 20556628 upstr_intron -32 -0.476923076923077 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATTATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 184 98 1 0.973240058407192 0.986620029203596 NA NA 1 0.991124731517994 NA NA 0 -0.0178846731108026 NA 0.995562365758997 NA -0.00894233655540128 NA FALSE NA 0 -1.181 . intron_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 1/1 1 NA TCA C,T 8.237e-06 12:20556628 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 intron_variant 1.029485 0.14666 0.01109 0.053691 0.758901514184163 0.0518458 0.106612095996096 FALSE NA ENSE00001197033_002 ENSE00001197033 002 12 20709529 20709698 + 65 51 54 A C 20709563 725 35 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCCTTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556628 20556629 20556629 upstr_intron -31 -0.461538461538462 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCCTTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 53 249 1 0.992811995237656 0.996405997618828 NA NA 1 0.991124731517994 NA NA 0 0.00168726371966166 NA 0.995562365758997 NA 0.000843631859830829 NA FALSE NA 0.003 0.946 . intron_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 1/1 1 NA CAT A,C 8.237e-06 12:20556629 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 intron_variant 0.796914 0.19851 0.07616 0.053691 0.801285513193338 0.0518458 0.106612095996096 FALSE 4.10351e-06 ENSE00001197033_003 ENSE00001197033 003 12 20709529 20709698 + 65 51 54 T C 20709566 726 38 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTCAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556631 20556632 20556632 upstr_intron -28 -0.415384615384615 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTCAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 31 76 1 1 1 NA NA 1 0.991124731517994 NA NA 0 0.0088752684820057 NA 0.995562365758997 NA 0.00443763424100285 NA FALSE NA 0.004 -0.009 . intron_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 1/1 rs201590675 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 TTA T,C 0.0001812 12:20556632 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 intron_variant 0.730693 0.16932 0.02948 0.053691 0.790161655652303 0.0455939 0.106612095996096 FALSE 0.000192947 ENSE00001197033_004 ENSE00001197033 004 12 20709529 20709698 + 65 51 54 A G 20709575 727 47 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTGTAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556640 20556641 20556641 upstr_intron -19 -0.276923076923077 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTGTAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 24 389 1 0.976385178236269 0.988192589118135 NA NA 1 0.991124731517994 NA NA 0 -0.0147395532817252 NA 0.995562365758997 NA -0.00736977664086258 NA FALSE NA 0 -1.574 . intron_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 1/1 1 NA TAT A,G 8.236e-06 12:20556641 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 intron_variant 0.281406 0.09776 0.00407 0.053691 0.665657500995344 0.0455939 0.106612095996096 FALSE 4.08751e-06 ENSE00001197033_005 ENSE00001197033 005 12 20709529 20709698 + 65 51 54 T C 20709576 728 48 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTACAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556641 20556642 20556642 upstr_intron -18 -0.261538461538462 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTACAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 778 126 1 1 1 NA NA 1 0.991124731517994 NA NA 0 0.0088752684820057 NA 0.995562365758997 NA 0.00443763424100285 NA FALSE NA 0 0.094 . intron_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 1/1 1 NA ATA T,C 8.236e-06 12:20556642 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 intron_variant 0.060522 0.12805 0.02587 0.053691 0.703847387804056 0.0455939 0.106612095996096 FALSE NA ENSE00001197033_008 ENSE00001197033 008 12 20709529 20709698 + 65 51 54 T C 20709598 731 70 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCACGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556663 20556664 20556664 exon 5 0.0980392156862745 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCACGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 22 53 1 1 1 NA NA 1 0.991124731517994 NA NA 0 0.0088752684820057 NA 0.995562365758997 NA 0.00443763424100285 NA FALSE NA 1 4.022 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA ATG T,C 8.236e-06 12:20556664 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 missense_variant 3.053629 0.97576 0.85753 0.706298 0.977736118243293 0 0.106612095996096 FALSE 4.06402e-06 ENSE00001197033_009 ENSE00001197033 009 12 20709529 20709698 + 65 51 54 G T 20709602 732 74 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGTCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556667 20556668 20556668 exon 9 0.176470588235294 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGTCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 82 1102 1 0.999965458348505 0.999982729174252 NA NA 1 0.991124731517994 NA NA 0 0.00884072683051029 NA 0.995562365758997 NA 0.00442036341525515 NA FALSE NA 0.011 -1.935 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA GGC G,T 8.236e-06 12:20556668 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 synonymous_variant 0.655417 0.46022 0.02531 0.538715 0.808700263123073 0 0.106612095996096 FALSE 1.62561e-05 ENSE00001197033_011 ENSE00001197033 011 12 20709529 20709698 + 65 51 54 T C 20709606 734 78 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATCCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556671 20556672 20556672 exon 13 0.254901960784314 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATCCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 34 1701 1 0.998098226166328 0.999049113083164 NA NA 1 0.991124731517994 NA NA 0 0.00697349464833419 NA 0.995562365758997 NA 0.00348674732416709 NA FALSE NA 1 4.022 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA TTC T,C 2.471e-05 12:20556672 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 missense_variant 2.111004 0.96297 0.81702 0.538715 0.976032748319783 0 0.106612095996096 FALSE 3.65699e-05 ENSE00001197033_012 ENSE00001197033 012 12 20709529 20709698 + 65 51 54 G T 20709613 735 85 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATTGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556678 20556679 20556679 exon 20 0.392156862745098 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATTGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 95 235 1 1 1 NA NA 1 0.991124731517994 NA NA 0 0.0088752684820057 NA 0.995562365758997 NA 0.00443763424100285 NA FALSE NA 1 4.968 rs145901899 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA TGG G,T 2.471e-05 12:20556679 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 missense_variant 6.522791 0.97958 0.91779 0.538715 0.98614985668972 0 0.106612095996096 FALSE 1.21895e-05 ENSE00001197033_015 ENSE00001197033 015 12 20709529 20709698 + 65 51 54 A G 20709641 738 113 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCGCAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556706 20556707 20556707 exon -4 0.941176470588235 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCGCAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 344 450 0.999159553252975 1 0.999579776626487 NA NA 1 0.991124731517994 NA NA -0.000840446747025103 0.0088752684820057 NA 0.995562365758997 NA 0.0040174108674903 NA FALSE NA 0.963 -0.196 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA CAC A,G 8.236e-06 12:20556707 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 synonymous_variant -0.158523 0.54263 0.26494 0.538715 0.544851083484185 0 0.106612095996096 FALSE 8.12889e-06 ENSE00001197033_016 ENSE00001197033 016 12 20709529 20709698 + 65 51 54 C G 20709653 739 125 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTGTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556718 20556719 20556719 downstr_intron 9 1.16981132075472 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTGTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 388 1105 0.999681368863557 0.99723566803196 0.998458518447759 NA NA 1 0.991124731517994 NA NA -0.000318631136443037 0.0061109365139661 NA 0.995562365758997 NA 0.00289615268876153 NA FALSE NA 0 -1.346 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA TCT C,G 8.237e-06 12:20556719 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 non_coding_transcript_exon_variant -0.881166 0.12009 0.02882 0.057505 0.383755396854651 0.14356 0.106612095996096 FALSE 4.06679e-06 ENSE00001197033_017 ENSE00001197033 017 12 20709529 20709698 + 65 51 54 T C 20709663 740 135 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTCCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556728 20556729 20556729 downstr_intron 19 1.35849056603774 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTCCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 751 1307 0.897616741184239 0.998441675041527 0.948029208112883 NA NA 1 0.991124731517994 NA NA -0.102383258815761 0.00731694352353263 NA 0.995562365758997 NA -0.047533157646114 NA FALSE NA 0 -0.849 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA TTC T,C 8.237e-06 12:20556729 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 non_coding_transcript_exon_variant -0.562565 0.15376 0.00297 0.057505 0.273062770383353 0.14356 0.106612095996096 FALSE NA ENSE00001197033_018 ENSE00001197033 018 12 20709529 20709698 + 65 51 54 C T 20709664 741 136 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTTTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556729 20556730 20556730 downstr_intron 20 1.37735849056604 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTTTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 58 263 1 1 1 NA NA 1 0.991124731517994 NA NA 0 0.0088752684820057 NA 0.995562365758997 NA 0.00443763424100285 NA FALSE NA 0 -1.199 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA TCT C,T 8.237e-06 12:20556730 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 non_coding_transcript_exon_variant -0.564565 0.14802 0.01147 0.057505 0.722622289898759 0.14356 0.106612095996096 FALSE 8.14266e-06 ENSE00001197033_019 ENSE00001197033 019 12 20709529 20709698 + 65 51 54 C T 20709672 742 144 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCATGTTTCGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556737 20556738 20556738 downstr_intron 28 1.52830188679245 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCATGTTTCGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 73 13 0.94295353558004 1 0.97147676779002 NA NA 1 0.991124731517994 NA NA -0.0570464644199599 0.0088752684820057 NA 0.995562365758997 NA -0.0240855979689771 NA FALSE NA 0 -2.636 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 1 NA ACG C,T 1.647e-05 12:20556738 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 non_coding_transcript_exon_variant -0.634651 0.08888 0.00484 0.057505 0.673842124041297 0.14356 0.106612095996096 FALSE 8.15474e-06 ENSE00001197033_021 ENSE00001197033 021 12 20709529 20709698 + 65 51 54 C T 20709677 744 149 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTTGTTTCGTAACACTTTCAGCCA 20556594 20556764 20556742 20556743 20556743 downstr_intron 33 1.62264150943396 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTTGTTTCGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 426 1143 1 1 1 NA NA 1 0.991124731517994 NA NA 0 0.0088752684820057 NA 0.995562365758997 NA 0.00443763424100285 NA FALSE NA 0.001 -0.332 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 rs200630210 1 NA T:0 T:0.0001 TCG C,T 0.000173 12:20556743 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 non_coding_transcript_exon_variant -0.504517 0.10974 0.00035 0.057505 0.732434883869427 0.11869 0.106612095996096 FALSE 0.000252937 ENSE00001197033_024 ENSE00001197033 024 12 20709529 20709698 + 65 51 54 C T 20709682 747 154 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTTGTAACACTTTCAGCCA 20556594 20556764 20556747 20556748 20556748 downstr_intron 38 1.71698113207547 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTTGTAACACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 423 548 0.995178382329858 0.999711291992209 0.997444837161034 NA NA 1 0.991124731517994 NA NA -0.00482161767014211 0.00858656047421502 NA 0.995562365758997 NA 0.00188247140203646 NA FALSE NA 0.001 0.031 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE3A HGNC 8778 ENST00000542675 2/2 rs369823591 1 NA T:0 T:0.0001 TCG C,T 8.237e-06 12:20556748 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 non_coding_transcript_exon_variant -0.689609 0.15829 0.01553 0.057505 0.82291723682051 0.11869 0.106612095996096 FALSE 4.08403e-06 ENSE00001197033_026 ENSE00001197033 026 12 20709529 20709698 + 65 51 54 C G 20709687 749 159 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAAGACTTTCAGCCA 20556594 20556764 20556752 20556753 20556753 downstr_intron 43 1.81132075471698 TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAAGACTTTCAGCCA TAAAGAAGAAAAATGTTTGTCAGGTAAAATAATCATTTAACTTATTATAATTTTCATCTTTCCAGCTCATGGGGCATTCAGAATGGGACCACAAACGAGGGCCAAGAGGATCACAGGTAAGTTTCTTTTCCTTTTCTTTTTCACGTTTCGTTTCGTAACACTTTCAGCCA mutant NA NA NA NA NA 101 208 1 1 1 NA NA 1 0.991124731517994 NA NA 0 0.0088752684820057 NA 0.995562365758997 NA 0.00443763424100285 NA FALSE NA 0 0.016 NA NA NA PDE3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:20556753 PDE3A HGNC Symbol protein_coding 315136 ENSG00000172572 ENSE00001197033 non_coding_transcript_exon_variant -0.210777 0.16021 0.04658 0.057505 0.658323332626709 0.11869 0.106612095996096 FALSE 4.09068e-06 ENSE00001198363_000 ENSE00001198363 000 11 62569611 62569780 - 38 84 48 NA NA NA NA NA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 NA NA NA NA NA NA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA natural NA NA NA NA NA 794 440 0.952145458425498 0.998581681341245 0.975363569883371 NA NA 0.952145458425498 0.998581681341245 NA NA 0 0 NA 0.975363569883371 NA 0 NA FALSE NA NA NA NA NA NA NXF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NXF1 NA NA NA ENSG00000162231 ENSE00003655676 NA NA NA NA NA NA NA 0.998990474742992 TRUE NA ENSE00001198363_001 ENSE00001198363 001 11 62569611 62569780 - 38 84 48 A G 62569623 1535 158 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCCGGCCAGGCACCA 62802138 62802308 62802150 62802151 62802151 downstr_intron 26 1.7027027027027 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCCGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 232 144 0.998212520792499 1 0.99910626039625 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0460670623670016 0.00141831865875519 NA 0.975363569883371 NA 0.0237426905128784 NA FALSE NA 0 -1.138 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 1 NA CAG A,G 6.589e-05 11:62802151 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 intron_variant 0.444126 0.19172 0.06076 0.298561 0.656569578992769 0.172078 0.998990474742992 TRUE 9.75602e-05 ENSE00001198363_002 ENSE00001198363 002 11 62569611 62569780 - 38 84 48 G C 62569628 1536 153 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGGTGGCTGGCCAGGCACCA 62802138 62802308 62802155 62802156 62802156 downstr_intron 21 1.56756756756757 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGGTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 107 187 1 1 1 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0478545415745022 0.00141831865875519 NA 0.975363569883371 NA 0.0246364301166287 NA FALSE NA 0.004 -0.464 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:62802156 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 intron_variant 1.119605 0.2681 0.11053 0.298561 0.66259458454082 0.276702 0.998990474742992 TRUE 6.9072e-05 ENSE00001198363_003 ENSE00001198363 003 11 62569611 62569780 - 38 84 48 G T 62569628 1537 153 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGATGGCTGGCCAGGCACCA 62802138 62802308 62802155 62802156 62802156 downstr_intron 21 1.56756756756757 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGATGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 475 76 1 1 1 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0478545415745022 0.00141831865875519 NA 0.975363569883371 NA 0.0246364301166287 NA FALSE NA 0.004 -0.464 NA NA NA NXF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NXF1 NA NA NA ENSG00000162231 ENSE00003655676 intron_variant 1.241753 0.27647 0.09899 0.298561 0.712622867961501 0.276702 0.998990474742992 TRUE 4.87567e-05 ENSE00001198363_005 ENSE00001198363 005 11 62569611 62569780 - 38 84 48 T G 62569633 1539 148 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGCGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802160 62802161 62802161 downstr_intron 16 1.43243243243243 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGCGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 454 99 1 1 1 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0478545415745022 0.00141831865875519 NA 0.975363569883371 NA 0.0246364301166287 NA FALSE NA 0 -1.002 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 1 NA CTC T,G 8.236e-06 11:62802161 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 intron_variant 1.857799 0.26775 0.0757 0.298561 0.756437827523765 0.274806 0.998990474742992 TRUE 4.0627e-06 ENSE00001198363_006 ENSE00001198363 006 11 62569611 62569780 - 38 84 48 G A 62569636 1540 145 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCTTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802163 62802164 62802164 downstr_intron 13 1.35135135135135 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCTTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 361 88 0.96223773183661 1 0.981118865918305 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0100922734111125 0.00141831865875519 NA 0.975363569883371 NA 0.00575529603493385 NA FALSE NA 0 0.193 rs114333528 downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 rs114333528 1 A:0.0028 A:0.0106 A:0 NA A:0 A:0 A:0 A:0.0116 A:0 AGG G,A 0.0009801 11:62802164 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 intron_variant 2.038093 0.22919 0.07933 0.298561 0.75870177555904 0.274806 0.998990474742992 TRUE 0.000719009 ENSE00001198363_007 ENSE00001198363 007 11 62569611 62569780 - 38 84 48 C A 62569638 1541 143 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGTCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802165 62802166 62802166 downstr_intron 11 1.2972972972973 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGTCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 397 1001 0.99927210508699 0.997940486814577 0.998606295950784 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0471266466614918 -0.000641194526667332 NA 0.975363569883371 NA 0.0232427260674122 NA FALSE NA 0 -0.212 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 rs371714642 1 NA A:0.0002 A:0.0003 GCC C,A 5.765e-05 11:62802166 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 intron_variant 2.351961 0.2802 0.16307 0.298561 0.783558771714041 0.292375 0.998990474742992 TRUE 3.65628e-05 ENSE00001198363_010 ENSE00001198363 010 11 62569611 62569780 - 38 84 48 G A 62569664 1544 117 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCTTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802191 62802192 62802192 exon -16 0.821428571428571 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCTTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 137 273 1 0.997450618980483 0.998725309490242 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0478545415745022 -0.00113106236076166 NA 0.975363569883371 NA 0.0233617396068703 NA FALSE NA 0.506 -0.624 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 1 NA AGG G,A 4.118e-05 11:62802192 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 synonymous_variant 0.837486 0.79153 0.18525 0.706548 0.536623056684934 0 0.998990474742992 TRUE 4.06131e-05 ENSE00001198363_012 ENSE00001198363 012 11 62569611 62569780 - 38 84 48 C A 62569688 1546 93 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATTATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802215 62802216 62802216 exon -40 0.535714285714286 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATTATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 28 133 1 0.99971334495095 0.999856672475475 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0478545415745022 0.0011316636097054 NA 0.975363569883371 NA 0.0244931025921038 NA FALSE NA 0.953 0.108 NA NA NA NXF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:62802216 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 start_lost 2.239003 0.89752 0.64934 0.706548 0.935434846414934 0 0.998990474742992 TRUE 4.06098e-06 ENSE00001198363_013 ENSE00001198363 013 11 62569611 62569780 - 38 84 48 C T 62569694 1547 87 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTAAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802221 62802222 62802222 exon 39 0.464285714285714 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTAAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 161 90 1 1 1 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0478545415745022 0.00141831865875519 NA 0.975363569883371 NA 0.0246364301166287 NA FALSE NA 0.306 0.258 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 1 NA TCA C,T 9.884e-05 11:62802222 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 synonymous_variant 1.672814 0.84857 0.78923 0.706548 0.741554081616694 0 0.998990474742992 TRUE 6.90389e-05 ENSE00001198363_014 ENSE00001198363 014 11 62569611 62569780 - 38 84 48 G T 62569721 1548 60 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGAAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802248 62802249 62802249 exon 12 0.142857142857143 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGAAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 48 158 1 1 1 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0478545415745022 0.00141831865875519 NA 0.975363569883371 NA 0.0246364301166287 NA FALSE NA 0.987 0.253 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 1 NA TGC G,T 8.236e-06 11:62802249 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 synonymous_variant 0.877854 0.90448 0.6971 0.706548 0.800164888823577 0 0.998990474742992 TRUE NA ENSE00001198363_015 ENSE00001198363 015 11 62569611 62569780 - 38 84 48 A T 62569727 1549 54 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCATATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802254 62802255 62802255 exon 6 0.0714285714285714 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCATATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 149 447 0.999446292345722 0.998278846718609 0.998862569532165 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0473008339202238 -0.000302834622635806 NA 0.975363569883371 NA 0.023498999648794 NA FALSE NA 0.996 0.31 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 rs562139672 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 AAG A,T 8.236e-06 11:62802255 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 synonymous_variant -0.10494 0.89752 0.67304 0.706548 0.866341588520795 0 0.998990474742992 TRUE 4.06418e-06 ENSE00001198363_017 ENSE00001198363 017 11 62569611 62569780 - 38 84 48 A T 62569744 1551 37 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCACTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802271 62802272 62802272 upstr_intron -12 -0.229166666666667 TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCACTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 491 424 0.963772132237081 0.873152024985979 0.91846207861153 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0116266738115828 -0.125429656355265 NA 0.975363569883371 NA -0.0569014912718413 NA FALSE NA 0.003 0.664 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 1 NA GAG A,T 8.236e-06 11:62802272 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 intron_variant 0.852177 0.28657 0.19563 0.0869 0.70555702233187 0.297743 0.998990474742992 TRUE NA ENSE00001198363_018 ENSE00001198363 018 11 62569611 62569780 - 38 84 48 A G 62569754 1552 27 TTCAGCCTTACTTATCATTCCCTTCTCTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802281 62802282 62802282 upstr_intron -22 -0.4375 TTCAGCCTTACTTATCATTCCCTTCTCTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 1602 29 0.952379566621616 1 0.976189783310808 NA NA 0.952145458425498 0.998581681341245 NA NA 0.000234108196118354 0.00141831865875519 NA 0.975363569883371 NA 0.000826213427436773 NA FALSE NA 0 0.41 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 1 NA AAA A,G 8.237e-06 11:62802282 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 intron_variant 0.082577 0.2097 0.04537 0.069865 0.745917814140134 0.100702 0.998990474742992 TRUE 4.10186e-06 ENSE00001198363_019 ENSE00001198363 019 11 62569611 62569780 - 38 84 48 G A 62569759 1553 22 TTCAGCCTTACTTATCATTCCTTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA 62802138 62802308 62802286 62802287 62802287 upstr_intron -27 -0.541666666666667 TTCAGCCTTACTTATCATTCCTTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA TTCAGCCTTACTTATCATTCCCTTCTTTTCTCTTTCTCTCATTTCTAGATTCCTTATGGCAGAAAGTATGACAAGGCATGGCTCCTGAGCATGATTCAGAGCAAGTGCAGTGTGCCCTTCACCCCTATTGAGGTAAGACAAGGCCTGAGTGGCTGGCTGGCCAGGCACCA mutant NA NA NA NA NA 430 157 1 1 1 NA NA 0.952145458425498 0.998581681341245 NA NA 0.0478545415745022 0.00141831865875519 NA 0.975363569883371 NA 0.0246364301166287 NA FALSE NA 0 -1.243 . downstream_gene_variant MODIFIER NXF1 HGNC 8071 ENST00000531474 rs200954542 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGG G,A 0.0002553 11:62802287 NXF1 HGNC Symbol protein_coding 14179 ENSG00000162231 ENSE00003655676 intron_variant 0.180815 0.22904 0.04001 0.069865 0.424075278820276 0.069656 0.998990474742992 TRUE 0.000185759 ENSE00001198914_000 ENSE00001198914 000 10 96104571 96104740 - 39 81 50 NA NA NA NA NA TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 NA NA NA NA NA NA TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT natural NA NA NA NA NA 1783 985 0.995302230581597 0.990096227969686 0.992699229275641 NA NA 0.995302230581597 0.990096227969686 NA NA 0 0 NA 0.992699229275641 NA 0 NA FALSE NA NA NA NA NA NA NOC3L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NOC3L NA NA NA ENSG00000173145 ENSE00001198914 NA NA NA NA NA NA NA 1.14013419227493e-06 FALSE NA ENSE00001198914_001 ENSE00001198914 001 10 96104571 96104740 - 39 81 50 A G 96104582 1984 159 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTCTTAAAATGCGT 94344813 94344983 94344824 94344825 94344825 downstr_intron 28 1.73684210526316 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTCTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 124 15 0.987035963329936 1 0.993517981664968 NA NA 0.995302230581597 0.990096227969686 NA NA -0.00826626725166113 0.00990377203031434 NA 0.992699229275641 NA 0.000818752389326605 NA FALSE NA 0 1.038 . intron_variant MODIFIER NOC3L HGNC 24034 ENST00000543788 6/14 1 NA AAA A,G 8.237e-06 10:94344825 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 intron_variant 1.196384 0.19565 0.38028 0.101703 0.76821594208826 0.177692 1.14013419227493e-06 FALSE 4.77359e-06 ENSE00001198914_003 ENSE00001198914 003 10 96104571 96104740 - 39 81 50 T C 96104595 1986 146 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATGTTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344837 94344838 94344838 downstr_intron 15 1.39473684210526 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATGTTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 73 173 1 0.999084722005236 0.999542361002618 NA NA 0.995302230581597 0.990096227969686 NA NA 0.00469776941840283 0.00898849403555047 NA 0.992699229275641 NA 0.00684313172697665 NA FALSE NA 0 -0.413 . intron_variant MODIFIER NOC3L HGNC 24034 ENST00000543788 6/14 1 NA ATA T,C 1.647e-05 10:94344838 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 intron_variant 1.372554 0.17314 0.32972 0.120541 0.764845617941115 0.210419 1.14013419227493e-06 FALSE 8.94095e-06 ENSE00001198914_004 ENSE00001198914 004 10 96104571 96104740 - 39 81 50 C T 96104602 1987 139 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAATTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344844 94344845 94344845 downstr_intron 8 1.21052631578947 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAATTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 77 2243 0.904197871920655 0.992618408238268 0.948408140079462 NA NA 0.995302230581597 0.990096227969686 NA NA -0.0911043586609419 0.00252218026858275 NA 0.992699229275641 NA -0.0442910891961796 NA FALSE NA 0.016 0.004 . splice_region_variant&intron_variant LOW NOC3L HGNC 24034 ENST00000543788 6/14 1 NA ACT C,T 1.647e-05 10:94344845 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 splice_region_variant 1.242629 0.23535 0.31509 0.120541 0.72606875145805 0.821735 1.14013419227493e-06 FALSE 8.85152e-06 ENSE00001198914_005 ENSE00001198914 005 10 96104571 96104740 - 39 81 50 T C 96104619 1988 122 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAGCTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344861 94344862 94344862 exon -10 0.888888888888889 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAGCTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 294 325 0.999859938667579 0.999513066260187 0.999686502463883 NA NA 0.995302230581597 0.990096227969686 NA NA 0.00455770808598233 0.009416838290501 NA 0.992699229275641 NA 0.00698727318824166 NA FALSE NA 1 1.178 . synonymous_variant LOW NOC3L HGNC 24034 ENST00000543788 6/15 1 NA GTT T,C 8.237e-06 10:94344862 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 synonymous_variant 0.592424 0.85983 0.82439 0.732398 0.669569529041137 0 1.14013419227493e-06 FALSE 4.27e-06 ENSE00001198914_008 ENSE00001198914 008 10 96104571 96104740 - 39 81 50 T A 96104633 1991 108 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGTGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344875 94344876 94344876 exon -24 0.716049382716049 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGTGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 810 26 1 0.926654949511707 0.963327474755853 NA NA 0.995302230581597 0.990096227969686 NA NA 0.00469776941840283 -0.063441278457979 NA 0.992699229275641 NA -0.0293717545197881 NA FALSE NA 1 7.008 . missense_variant MODERATE NOC3L HGNC 24034 ENST00000543788 6/15 1 possibly_damaging(0.896) NA CTC T,A 8.237e-06 10:94344876 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 missense_variant 6.188652 0.95697 0.98172 0.732398 0.993124372284999 0 1.14013419227493e-06 FALSE 1.65478e-05 ENSE00001198914_010 ENSE00001198914 010 10 96104571 96104740 - 39 81 50 C T 96104634 1993 107 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAAAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344876 94344877 94344877 exon -25 0.703703703703704 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAAAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 927 263 0.995510855632275 0.987025978032721 0.991268416832498 NA NA 0.995302230581597 0.990096227969686 NA NA 0.000208625050678202 -0.00307024993696492 NA 0.992699229275641 NA -0.00143081244314336 NA FALSE NA 1 0.772 NA NA NA NOC3L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:94344877 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 synonymous_variant 1.688512 0.90052 0.87793 0.732398 0.870402976877424 0 1.14013419227493e-06 FALSE 4.12701e-06 ENSE00001198914_012 ENSE00001198914 012 10 96104571 96104740 - 39 81 50 A G 96104640 1995 101 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCCTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344882 94344883 94344883 exon -31 0.62962962962963 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCCTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant 23 27 0.85 0.85 0.85 657 73 0.953351133947071 0.852954453079864 0.903152793513468 NA NA 0.995302230581597 0.990096227969686 NA NA -0.0419510966345261 -0.137141774889821 NA 0.992699229275641 NA -0.0895464357621737 NA FALSE NA 0.887 0.12 . synonymous_variant LOW NOC3L HGNC 24034 ENST00000543788 6/15 1 NA AAG A,G 8.237e-06 10:94344883 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 synonymous_variant 1.046345 0.851 0.8126 0.732398 0.677871366307465 0 1.14013419227493e-06 FALSE 8.2528e-06 ENSE00001198914_014 ENSE00001198914 014 10 96104571 96104740 - 39 81 50 C T 96104653 1997 88 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCAAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344895 94344896 94344896 exon 38 0.469135802469136 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCAAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 260 90 1 0.998238665291283 0.999119332645642 NA NA 0.995302230581597 0.990096227969686 NA NA 0.00469776941840283 0.00814243732159758 NA 0.992699229275641 NA 0.00642010337000021 NA FALSE NA 1 2.933 . missense_variant MODERATE NOC3L HGNC 24034 ENST00000543788 6/15 1 benign(0.002) NA TCG C,T 3.295e-05 10:94344896 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 missense_variant 3.613035 0.91961 0.9087 0.732398 0.997327077289531 0 1.14013419227493e-06 FALSE 1.6489e-05 ENSE00001198914_015 ENSE00001198914 015 10 96104571 96104740 - 39 81 50 C T 96104662 1998 79 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCAAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344904 94344905 94344905 exon 29 0.358024691358025 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCAAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 75 41 1 0.8 0.9 NA NA 0.995302230581597 0.990096227969686 NA NA 0.00469776941840283 -0.190096227969686 NA 0.992699229275641 NA -0.0926992292756414 NA FALSE NA 1 4.893 . missense_variant MODERATE NOC3L HGNC 24034 ENST00000543788 6/15 1 benign(0.401) NA TCG C,T 9.061e-05 10:94344905 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 missense_variant 5.870616 0.93041 0.93017 0.732398 0.998941493595484 0 1.14013419227493e-06 FALSE 5.34153e-05 ENSE00001198914_017 ENSE00001198914 017 10 96104571 96104740 - 39 81 50 T G 96104665 2000 76 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGCGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344907 94344908 94344908 exon 26 0.320987654320988 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGCGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 547 60 1 1 1 NA NA 0.995302230581597 0.990096227969686 NA NA 0.00469776941840283 0.00990377203031434 NA 0.992699229275641 NA 0.00730077072435859 NA FALSE NA 1 7.008 rs3758526 missense_variant MODERATE NOC3L HGNC 24034 ENST00000543788 6/15 rs3758526&COSM3998139 1 possibly_damaging(0.487) G:0.2069 G:0.1657 G:0.0908 NA G:0.2937 G:0.1213 G:0.3436 G:0.1651 G:0.1221 CTC T,G 0.161 10:94344908 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 missense_variant 4.612031 0.94064 0.97742 0.732398 0.995357830997055 0 1.14013419227493e-06 FALSE 0.15315 ENSE00001198914_019 ENSE00001198914 019 10 96104571 96104740 - 39 81 50 T C 96104698 2002 43 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTGTTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344940 94344941 94344941 upstr_intron -8 -0.14 TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTGTTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 46 30 0.975254575143033 0.989161148471234 0.982207861807134 NA NA 0.995302230581597 0.990096227969686 NA NA -0.0200476554385637 -0.000935079498451619 NA 0.992699229275641 NA -0.0104913674685077 NA FALSE NA 0 -2.145 . splice_region_variant&intron_variant LOW NOC3L HGNC 24034 ENST00000543788 5/14 1 NA ATA T,C 8.237e-06 10:94344941 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 splice_region_variant 0.246209 0.13902 0.18439 0.225121 0.631389126870674 0.108738 1.14013419227493e-06 FALSE 4.27939e-06 ENSE00001198914_025 ENSE00001198914 025 10 96104571 96104740 - 39 81 50 C T 96104710 2008 31 TCACTCTGTGGTATATGCTCTTAGATTTTTATTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344952 94344953 94344953 upstr_intron -20 -0.38 TCACTCTGTGGTATATGCTCTTAGATTTTTATTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 36 54 1 1 1 NA NA 0.995302230581597 0.990096227969686 NA NA 0.00469776941840283 0.00990377203031434 NA 0.992699229275641 NA 0.00730077072435859 NA FALSE NA 0 0.048 . intron_variant MODIFIER NOC3L HGNC 24034 ENST00000543788 5/14 1 NA ACA C,T 8.238e-06 10:94344953 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 intron_variant 0.020805 0.17316 0.18565 0.235255 0.869036684376759 0.0759812 1.14013419227493e-06 FALSE 4.47852e-06 ENSE00001198914_027 ENSE00001198914 027 10 96104571 96104740 - 39 81 50 C T 96104724 2010 17 TCACTCTGTGGTATATACTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT 94344813 94344983 94344966 94344967 94344967 upstr_intron -34 -0.66 TCACTCTGTGGTATATACTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT TCACTCTGTGGTATATGCTCTTAGATTTTTGTTTTTCAATCTATTTTCAGTGGAAGAAAGCAGAAGAGAAACTAGAGCGAGAGCTTCGAGAGGCAGAAGCTTCAGAGAGTACTGAGAAAAAACTTAAACTGGTAGGCAGTTTCATATTCTGTTATGCTTTTAAAATGCGT mutant NA NA NA NA NA 24 646 1 0.999941066987245 0.999970533493622 NA NA 0.995302230581597 0.990096227969686 NA NA 0.00469776941840283 0.00984483901755928 NA 0.992699229275641 NA 0.00727130421798106 NA FALSE NA 0 -2.172 . intron_variant MODIFIER NOC3L HGNC 24034 ENST00000543788 5/14 1 NA GCA C,T 8.24e-06 10:94344967 NOC3L HGNC Symbol protein_coding 29733 ENSG00000173145 ENSE00001198914 intron_variant 0.688927 0.06984 0.02362 0.235255 0.874501305698598 0.0590208 1.14013419227493e-06 FALSE NA ENSE00001199313_000 ENSE00001199313 000 8 33354693 33354862 + 57 66 47 NA NA NA NA NA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA 33497174 33497344 NA NA NA NA NA NA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA natural NA NA NA NA NA 1368 823 0.927244846209397 0.875744996518539 0.901494921363968 NA NA 0.927244846209397 0.875744996518539 NA NA 0 0 NA 0.901494921363968 NA 0 NA FALSE NA NA NA NA NA NA MAK16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAK16 NA NA NA ENSG00000198042 ENSE00003667045 NA NA NA NA NA NA NA 0.993980456078529 TRUE NA ENSE00001199313_BRK ENSE00001199313 BRK 8 33354693 33354862 + 57 66 47 A,G; T,T NA NA NA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATTTGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGCCGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA 33497174 33497344 NA NA NA NA NA NA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATTTGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGCCGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA control NA NA NA NA NA 547 217 0 0.00147735290624141 0.000738676453120704 NA NA 0.927244846209397 0.875744996518539 NA NA -0.927244846209397 -0.874267643612297 NA 0.901494921363968 NA -0.900756244910847 NA TRUE NA NA NA NA NA NA MAK16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAK16 NA NA NA ENSG00000198042 ENSE00003667045 NA NA NA NA NA NA NA 0.993980456078529 TRUE NA ENSE00001199327_000 ENSE00001199327 000 2 204341760 204341929 - 39 81 50 NA NA NA NA NA CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG 203477036 203477206 NA NA NA NA NA NA CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG natural 227 281 0.85 0.864371953075031 0.857185976537516 3397 2571 0.955173628669888 0.825692083539735 0.890432856104812 0.85 0.864371953075031 0.955173628669888 0.825692083539735 0 0 0 0 0.857185976537516 0.890432856104812 0 0 0 FALSE FALSE NA NA NA NA NA RAPH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAPH1 NA NA NA ENSG00000173166 ENSE00001199327 NA NA NA NA NA NA NA 0.957851233210029 TRUE NA ENSE00001199327_002 ENSE00001199327 002 2 204341760 204341929 - 39 81 50 T C 204341778 4246 152 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCGTGGCATGACTTAATGAAG 203477036 203477206 203477054 203477055 203477055 downstr_intron 21 1.55263157894737 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCGTGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 2027 1160 0.948407587381385 0.948499741405422 0.948453664393403 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA -0.00676604128850367 0.122807657865686 0.857185976537516 0.890432856104812 NA 0.0580208082885914 NA FALSE NA 0 -2.86 . intron_variant MODIFIER RAPH1 HGNC 14436 ENST00000418114 3/11 1 NA ATG T,C 1.647e-05 2:203477055 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 intron_variant 0.099096 0.06339 0.00527 0 0.588002444655822 0.18756 0.957851233210029 TRUE 8.15568e-06 ENSE00001199327_003 ENSE00001199327 003 2 204341760 204341929 - 39 81 50 G A 204341779 4247 151 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCTATGGCATGACTTAATGAAG 203477036 203477206 203477055 203477056 203477056 downstr_intron 20 1.52631578947368 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCTATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 849 252 0.982775206077159 0.968183597194602 0.97547940163588 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA 0.0276015774072702 0.142491513654866 0.857185976537516 0.890432856104812 NA 0.0850465455310683 NA FALSE NA 0.103 0.515 . intron_variant MODIFIER RAPH1 HGNC 14436 ENST00000418114 3/11 1 NA TGG G,A 2.471e-05 2:203477056 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 intron_variant 0.445599 0.18045 0.02803 0 0.662649885442013 0.18756 0.957851233210029 TRUE 2.44732e-05 ENSE00001199327_004 ENSE00001199327 004 2 204341760 204341929 - 39 81 50 C T 204341781 4248 149 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATACCATGGCATGACTTAATGAAG 203477036 203477206 203477057 203477058 203477058 downstr_intron 18 1.47368421052632 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATACCATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 1048 46 0.954641225654807 0.868703542334616 0.911672383994712 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA -0.000532403015080951 0.0430114587948807 0.857185976537516 0.890432856104812 NA 0.0212395278898999 NA FALSE NA 0.238 0.126 NA NA NA RAPH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:203477058 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 intron_variant 0.418932 0.18361 0.06667 0 0.715782979450449 0.18756 0.957851233210029 TRUE 1.22383e-05 ENSE00001199327_006 ENSE00001199327 006 2 204341760 204341929 - 39 81 50 G A 204341784 4250 146 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAATATGCCATGGCATGACTTAATGAAG 203477036 203477206 203477060 203477061 203477061 downstr_intron 15 1.39473684210526 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAATATGCCATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 18 152 0.910453566500382 0.95 0.930226783250191 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA -0.0447200621695064 0.124307916460265 0.857185976537516 0.890432856104812 NA 0.0397939271453791 NA FALSE NA 1 2.29 . intron_variant MODIFIER RAPH1 HGNC 14436 ENST00000418114 3/11 1 NA TGT G,A 1.647e-05 2:203477061 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 intron_variant 1.455994 0.5555 0.6663 0 0.79834876346685 0.413674 0.957851233210029 TRUE 8.15215e-06 ENSE00001199327_007 ENSE00001199327 007 2 204341760 204341929 - 39 81 50 T C 204341787 4251 143 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATGAACATGCCATGGCATGACTTAATGAAG 203477036 203477206 203477063 203477064 203477064 downstr_intron 12 1.31578947368421 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATGAACATGCCATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 287 22 0.961765570524963 0.998251164168762 0.980008367346863 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA 0.00659194185507495 0.172559080629027 0.857185976537516 0.890432856104812 NA 0.089575511242051 NA FALSE NA 0.981 1.49 rs183680128 intron_variant MODIFIER RAPH1 HGNC 14436 ENST00000418114 3/11 rs183680128 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TTA T,C 8.236e-06 2:203477064 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 intron_variant 1.974446 0.64096 0.58742 0 0.844340067445416 0.827828 0.957851233210029 TRUE 4.0709e-06 ENSE00001199327_008 ENSE00001199327 008 2 204341760 204341929 - 39 81 50 G A 204341800 4252 130 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACTTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG 203477036 203477206 203477076 203477077 203477077 exon -2 0.987654320987654 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACTTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 786 25 0.821433932592607 0.724463870781577 0.772948901687092 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA -0.133739696077281 -0.101228212758158 0.857185976537516 0.890432856104812 NA -0.11748395441772 NA FALSE NA 1 5.511 . intron_variant MODIFIER RAPH1 HGNC 14436 ENST00000418114 3/11 1 NA AGG G,A 8.236e-06 2:203477077 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 missense_variant 2.84831 0.98048 0.94637 0.615465 0.981844981250109 0 0.957851233210029 TRUE 4.06759e-06 ENSE00001199327_009 ENSE00001199327 009 2 204341760 204341929 - 39 81 50 G A 204341801 4253 129 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACATCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG 203477036 203477206 203477077 203477078 203477078 exon -3 0.975308641975309 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACATCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 757 48 0.960245324222176 0.894010119303898 0.927127721763037 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA 0.0050716955522877 0.068318035764163 0.857185976537516 0.890432856104812 NA 0.0366948656582253 NA FALSE NA 1 3.981 . intron_variant MODIFIER RAPH1 HGNC 14436 ENST00000418114 3/11 1 NA GGT G,A 8.236e-06 2:203477078 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 missense_variant 2.725469 0.96812 0.83447 0.615465 0.992972159826729 0 0.957851233210029 TRUE 4.06762e-06 ENSE00001199327_012 ENSE00001199327 012 2 204341760 204341929 - 39 81 50 C T 204341839 4256 91 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCATCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG 203477036 203477206 203477115 203477116 203477116 exon -41 0.506172839506173 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCATCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 131 39 0.9544231997807 0.95 0.95221159989035 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA -0.000750428889188859 0.124307916460265 0.857185976537516 0.890432856104812 NA 0.0617787437855379 NA FALSE NA 0.544 -0.436 . intron_variant MODIFIER RAPH1 HGNC 14436 ENST00000418114 3/11 1 NA ACG C,T 8.236e-06 2:203477116 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 missense_variant 2.201993 0.92806 0.167 0.615465 0.747753873397837 0 0.957851233210029 TRUE 8.13246e-06 ENSE00001199327_017 ENSE00001199327 017 2 204341760 204341929 - 39 81 50 A G 204341861 4261 69 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGACGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG 203477036 203477206 203477137 203477138 203477138 exon 19 0.234567901234568 CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGACGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG CCGTTTCACCTCCTTTACCTATCATTTTCTTCCTTACTGCATTTTCACAGCATGCTATTTCTCTGAGATGTTCCAGCAAGCAGGCCAAGCGTCATATTGACTTCACAGAAGAACAGGCTGAGCTGACACCTGTAAGTTCTATAAACATGCCATGGCATGACTTAATGAAG mutant NA NA NA NA NA 722 266 0.992272124828591 0.983064212953629 0.98766816889111 0.85 0.864371953075031 0.955173628669888 0.825692083539735 NA NA 0.0370984961587028 0.157372129413893 0.857185976537516 0.890432856104812 NA 0.097235312786298 NA FALSE NA 1 5.096 . intron_variant MODIFIER RAPH1 HGNC 14436 ENST00000418114 3/11 1 NA CAT A,G 8.236e-06 2:203477138 RAPH1 HGNC Symbol protein_coding 141065 ENSG00000173166 ENSE00001199327 missense_variant 2.713086 0.956 0.45672 0.554377 0.969272965839512 0 0.957851233210029 TRUE 2.43906e-05 ENSE00001199498_000 ENSE00001199498 000 11 71189388 71189557 + 53 75 42 NA NA NA NA NA CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 NA NA NA NA NA NA GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG natural NA NA NA NA NA 1022 686 0.957823657670608 0.995303404387539 0.976563531029074 NA NA 0.957823657670608 0.995303404387539 NA NA 0 0 NA 0.976563531029074 NA 0 NA FALSE NA NA NA NA NA NA NADSYN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NADSYN1 NA NA NA ENSG00000172890 ENSE00003600208 NA NA NA NA NA NA NA 2.45472937261485e-09 FALSE NA ENSE00001199498_001 ENSE00001199498 001 11 71189388 71189557 + 53 75 42 C T 71189402 1988 15 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCATTTGTTCAACTCCC 71478341 71478511 71478355 71478356 71478356 upstr_intron -39 -0.716981132075472 GGGAGTTGAACAAATGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 479 76 0.997430676585565 0.997913313142711 0.997671994864138 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0396070189149564 0.00260990875517264 NA 0.976563531029074 NA 0.0211084638350645 NA FALSE NA 0 -1.296 . intron_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 9/20 rs532890770 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACG C,T 4.164e-05 11:71478356 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 intron_variant -0.142488 0.13551 0.00873 0.283894 0.659861828933716 0.0906973 2.45472937261485e-09 FALSE 7.67741e-05 ENSE00001199498_002 ENSE00001199498 002 11 71189388 71189557 + 53 75 42 G A 71189403 1989 16 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCTGTTTGTTCAACTCCC 71478341 71478511 71478356 71478357 71478357 upstr_intron -38 -0.69811320754717 GGGAGTTGAACAAACAGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 202 48 1 1 1 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 0.00469659561246116 NA 0.976563531029074 NA 0.0234364689709264 NA FALSE NA 0.002 -0.329 . intron_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 9/20 rs372526717 1 NA A:0 A:0.0001 CGG G,A 7.491e-05 11:71478357 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 intron_variant -0.118157 0.09018 0.00296 0.283894 0.680852193043447 0.0906973 2.45472937261485e-09 FALSE 0.000105118 ENSE00001199498_004 ENSE00001199498 004 11 71189388 71189557 + 53 75 42 G A 71189413 1991 26 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCTGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478366 71478367 71478367 upstr_intron -28 -0.509433962264151 GGGAGTTGAACAAACGGGAAATCACAGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 589 186 1 0.999148765093638 0.999574382546819 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 0.00384536070609909 NA 0.976563531029074 NA 0.0230108515177453 NA FALSE NA 0 -2.066 . intron_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 9/20 1 NA CGG G,A 8.284e-06 11:71478367 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 intron_variant -0.157921 0.09301 0.00505 0.283894 0.836538129486021 0.112367 2.45472937261485e-09 FALSE NA ENSE00001199498_005 ENSE00001199498 005 11 71189388 71189557 + 53 75 42 T C 71189436 1992 49 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGGGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478389 71478390 71478390 upstr_intron -5 -0.0754716981132075 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCCCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 1118 233 1 1 1 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 0.00469659561246116 NA 0.976563531029074 NA 0.0234364689709264 NA FALSE NA 0 -0.021 rs2276353 splice_region_variant&intron_variant&NMD_transcript_variant LOW NADSYN1 HGNC 29832 ENST00000525200 9/20 rs2276353 1 T:0.1983 C:0.8275 C:0.7435 NA C:0.8284 C:0.9563 C:0.6217 C:0.8419 C:0.946 CTC C,C 0.859 11:71478390 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 splice_region_variant 0.145714 0.15049 0.01648 0.283894 0.719447018216782 0.161599 2.45472937261485e-09 FALSE 0.863843 ENSE00001199498_006 ENSE00001199498 006 11 71189388 71189557 + 53 75 42 G A 71189441 1993 54 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTTCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478394 71478395 71478395 exon 1 0.0133333333333333 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGAAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 2169 196 0.999924081728762 0.989954457968846 0.994939269848804 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421004240581532 -0.00534894641869299 NA 0.976563531029074 NA 0.0183757388197301 NA FALSE NA 1 7.784 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW NADSYN1 HGNC 29832 ENST00000525200 10/21 1 NA GGA G,A 3.297e-05 11:71478395 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 6.784119 0.98909 0.99239 0.706548 0.999233421990134 0 2.45472937261485e-09 FALSE 2.18953e-05 ENSE00001199498_007 ENSE00001199498 007 11 71189388 71189557 + 53 75 42 C A 71189446 1994 59 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGTACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478399 71478400 71478400 exon 6 0.08 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTACTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 755 124 0.95787843811587 1 0.978939219057935 NA NA 0.957823657670608 0.995303404387539 NA NA 5.47804452611933e-05 0.00469659561246116 NA 0.976563531029074 NA 0.00237568802886118 NA FALSE NA 0.923 -0.225 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 1 NA TCC C,A 8.241e-06 11:71478400 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 2.448979 0.95681 0.68824 0.706548 0.892980924260608 0 2.45472937261485e-09 FALSE NA ENSE00001199498_008 ENSE00001199498 008 11 71189388 71189557 + 53 75 42 C T 71189451 1995 64 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCATCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478404 71478405 71478405 exon 11 0.146666666666667 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGATGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 420 121 1 0.964417172651082 0.982208586325541 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 -0.0308862317364573 NA 0.976563531029074 NA 0.00564505529646714 NA FALSE NA 0.994 2.614 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 1 NA ACG C,T 8.24e-06 11:71478405 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 5.5531 0.98848 0.90862 0.706548 0.995936722251057 0 2.45472937261485e-09 FALSE NA ENSE00001199498_010 ENSE00001199498 010 11 71189388 71189557 + 53 75 42 C T 71189457 1997 70 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCATGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478410 71478411 71478411 exon 17 0.226666666666667 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCATGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 434 91 0.999646727882627 1 0.999823363941314 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0418230702120187 0.00469659561246116 NA 0.976563531029074 NA 0.0232598329122399 NA FALSE NA 1 6.207 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 1 NA ACG C,T 8.239e-06 11:71478411 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 7.393359 0.98873 0.98887 0.706548 0.998913573437361 0 2.45472937261485e-09 FALSE NA ENSE00001199498_012 ENSE00001199498 012 11 71189388 71189557 + 53 75 42 A T 71189463 1999 76 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGTTCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG 71478341 71478511 71478416 71478417 71478417 exon 23 0.306666666666667 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGTTCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 1784 494 0.998044345371403 1 0.999022172685701 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0402206877007941 0.00469659561246116 NA 0.976563531029074 NA 0.0224586416566276 NA FALSE NA 1 7.395 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 1 NA GAT A,T 8.238e-06 11:71478417 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 6.194433 0.98644 0.99272 0.706548 0.994432261830862 0 2.45472937261485e-09 FALSE NA ENSE00001199498_016 ENSE00001199498 016 11 71189388 71189557 + 53 75 42 C T 71189477 2003 90 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCAGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478430 71478431 71478431 exon 37 0.493333333333333 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCTGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 175 1814 1 0.921616695485322 0.960808347742661 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 -0.0736867089022167 NA 0.976563531029074 NA -0.0157551832864126 NA FALSE NA 0.224 0.08 rs147929525 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 rs147929525 1 T:0.0004 T:0.0008 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0021 CCG C,T 0.000758 11:71478431 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 4.108987 0.51571 0.2857 0.706548 0.98789325657556 0 2.45472937261485e-09 FALSE 0.000729693 ENSE00001199498_017 ENSE00001199498 017 11 71189388 71189557 + 53 75 42 G A 71189478 2004 91 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCTGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478431 71478432 71478432 exon -38 0.506666666666667 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCAGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 246 13 0.989362959730244 1 0.994681479865122 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0315393020596352 0.00469659561246116 NA 0.976563531029074 NA 0.0181179488360482 NA FALSE NA 1 4.837 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 1 NA CGG G,A 0.0001236 11:71478432 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 5.506357 0.98214 0.96442 0.706548 0.999128218132658 0 2.45472937261485e-09 FALSE 6.76207e-05 ENSE00001199498_018 ENSE00001199498 018 11 71189388 71189557 + 53 75 42 G T 71189479 2005 92 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTACGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478432 71478433 71478433 exon -37 0.52 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGTAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 157 300 1 0.994074169920093 0.997037084960047 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 -0.00122923446744583 NA 0.976563531029074 NA 0.0204735539309729 NA FALSE NA 0.999 0.447 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:71478433 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 stop_gained 1.03629 0.91026 0.74675 0.706548 0.996138506562333 0 2.45472937261485e-09 FALSE 4.21973e-06 ENSE00001199498_019 ENSE00001199498 019 11 71189388 71189557 + 53 75 42 G A 71189479 2006 92 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTTCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478432 71478433 71478433 exon -37 0.52 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGAAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 111 174 0.998616567898886 1 0.999308283949443 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0407929102282776 0.00469659561246116 NA 0.976563531029074 NA 0.0227447529203694 NA FALSE NA 0.999 0.447 NA NA NA NADSYN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NADSYN1 NA NA NA ENSG00000172890 ENSE00003600208 missense_variant 1.264781 0.90728 0.34841 0.706548 0.970399857141851 0 2.45472937261485e-09 FALSE 4.21973e-06 ENSE00001199498_021 ENSE00001199498 021 11 71189388 71189557 + 53 75 42 A G 71189484 2008 97 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGCAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478437 71478438 71478438 exon -32 0.586666666666667 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTGCAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 118 52 1 1 1 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 0.00469659561246116 NA 0.976563531029074 NA 0.0234364689709264 NA FALSE NA 1 5.579 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 1 NA TAC A,G 2.472e-05 11:71478438 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 5.537958 0.9766 0.9776 0.706548 0.998042516066005 0 2.45472937261485e-09 FALSE 1.26737e-05 ENSE00001199498_023 ENSE00001199498 023 11 71189388 71189557 + 53 75 42 G A 71189491 2010 104 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCTGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478444 71478445 71478445 exon -25 0.68 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCAGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 829 173 0.997865143551838 0.803600413851164 0.900732778701501 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0400414858812296 -0.191702990536375 NA 0.976563531029074 NA -0.0758307523275725 NA FALSE NA 0.078 -1.519 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 rs201214062&COSM1356748 1 A:0.0012 A:0.0008 A:0 NA A:0.004 A:0 A:0.001 CGG G,A 9.065e-05 11:71478445 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 1.991148 0.59841 0.0115 0.706548 0.803099012035962 0 2.45472937261485e-09 FALSE 5.54106e-05 ENSE00001199498_024 ENSE00001199498 024 11 71189388 71189557 + 53 75 42 T A 71189497 2011 110 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGATGATATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478450 71478451 71478451 exon -19 0.76 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATATCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 162 87 1 1 1 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 0.00469659561246116 NA 0.976563531029074 NA 0.0234364689709264 NA FALSE NA 0.391 -0.513 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 1 NA TTT T,A 8.242e-06 11:71478451 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 1.694719 0.22722 0.29888 0.706548 0.853196837050887 0 2.45472937261485e-09 FALSE NA ENSE00001199498_025 ENSE00001199498 025 11 71189388 71189557 + 53 75 42 A G 71189500 2012 113 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCGAGACGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478453 71478454 71478454 exon -16 0.8 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCGTCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 80 1277 0.974772146112242 0.999876133518809 0.987324139815526 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0169484884416341 0.00457272913127027 NA 0.976563531029074 NA 0.0107606087864522 NA FALSE NA 0.031 -1.213 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/21 rs535588656 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAT A,G 3.297e-05 11:71478454 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 0.948239 0.15065 0.03513 0.706548 0.632410955045469 0 2.45472937261485e-09 FALSE 2.14947e-05 ENSE00001199498_026 ENSE00001199498 026 11 71189388 71189557 + 53 75 42 C A 71189504 2013 117 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCGCCAGGTTTCTAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478457 71478458 71478458 exon -12 0.853333333333333 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTAGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 301 396 0.994733007954984 0.999130355032109 0.996931681493546 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0369093502843751 0.00382695064456995 NA 0.976563531029074 NA 0.0203681504644725 NA FALSE NA 0.996 2.815 NA NA NA NADSYN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:71478458 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 stop_gained 2.865583 0.9864 0.95466 0.706548 0.995184840759876 0 2.45472937261485e-09 FALSE 0.000105044 ENSE00001199498_028 ENSE00001199498 028 11 71189388 71189557 + 53 75 42 C T 71189514 2015 127 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACCACCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478467 71478468 71478468 exon -2 0.986666666666667 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGTGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 58 255 1 0.982252267958891 0.991126133979446 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 -0.0130511364286475 NA 0.976563531029074 NA 0.014562602950372 NA FALSE NA 0.965 0.371 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW NADSYN1 HGNC 29832 ENST00000525200 10/21 rs369703615 1 NA T:0.0005 T:0.0001 GCG C,T 9.075e-05 11:71478468 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 3.605376 0.95536 0.33287 0.706548 0.995785167303397 0 2.45472937261485e-09 FALSE 0.00010425 ENSE00001199498_029 ENSE00001199498 029 11 71189388 71189557 + 53 75 42 G A 71189515 2016 128 CTTTGATGAGCATCCCACACAGGTGTCTACTGGAGCACTCACTGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478468 71478469 71478469 exon -1 1 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCAGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 949 246 0.999869832620195 0.940023071144028 0.969946451882111 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0420461749495862 -0.0552803332435108 NA 0.976563531029074 NA -0.0066170791469623 NA FALSE NA 1 1.783 rs34989018 splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW NADSYN1 HGNC 29832 ENST00000525200 10/21 rs34989018 1 NA A:0 A:0.0005 CGG G,A 0.0001403 11:71478469 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 missense_variant 2.615008 0.98615 0.89683 0.706548 0.974780849254868 0 2.45472937261485e-09 FALSE 0.000199922 ENSE00001199498_030 ENSE00001199498 030 11 71189388 71189557 + 53 75 42 T C 71189524 2017 137 CTTTGATGAGCATCCCACACAGGTGTCTACTGGGGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478477 71478478 71478478 downstr_intron 9 1.21951219512195 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCCCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 383 545 0.999028914829208 0.996576192249369 0.997802553539289 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0412052571586 0.00127278786183016 NA 0.976563531029074 NA 0.0212390225102151 NA FALSE NA 0 0.017 . intron_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/20 1 NA CTC T,C 2.477e-05 11:71478478 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 non_coding_transcript_exon_variant 0.592801 0.13421 0.03674 0.256867 0.584547873576101 0.0717071 2.45472937261485e-09 FALSE 9.46952e-06 ENSE00001199498_031 ENSE00001199498 031 11 71189388 71189557 + 53 75 42 A G 71189532 2018 145 CTTTGATGAGCATCCCACACAGGTGCCTACTGGAGCACTCACCGCCAGGTTTCGAGATGAAATCTCCGCCCTGTAGCTCCGGACGTCCTCCAGATCCAGCGTGGCCGTCAGGACTTCCTGGAGAAGGAAATTTCAAAGAGAACCCGTGATTTCCCGTTTGTTCAACTCCC 71478341 71478511 71478485 71478486 71478486 downstr_intron 17 1.41463414634146 GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGGCACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG mutant NA NA NA NA NA 32 233 1 0.964192389657073 0.982096194828536 NA NA 0.957823657670608 0.995303404387539 NA NA 0.0421763423293916 -0.0311110147304663 NA 0.976563531029074 NA 0.00553266379946266 NA FALSE NA 0 -0.99 . intron_variant&NMD_transcript_variant MODIFIER NADSYN1 HGNC 29832 ENST00000525200 10/20 1 NA GAC A,G 8.263e-06 11:71478486 NADSYN1 HGNC Symbol protein_coding 70998 ENSG00000172890 ENSE00003600208 non_coding_transcript_exon_variant -0.218476 0.06637 0.011 0.256867 0.283911832917459 0.0717071 2.45472937261485e-09 FALSE 4.95737e-06 ENSE00001199498_BRK ENSE00001199498 BRK 11 71189388 71189557 + 53 75 42 A,G; T,T NA NA NA GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCTTGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGCCGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG 71478341 71478511 NA NA NA NA NA NA GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCTTGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGCCGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG GGGAGTTGAACAAACGGGAAATCACGGGTTCTCTTTGAAATTTCCTTCTCCAGGAAGTCCTGACGGCCACGCTGGATCTGGAGGACGTCCGGAGCTACAGGGCGGAGATTTCATCTCGAAACCTGGCGGTGAGTGCTCCAGTAGACACCTGTGTGGGATGCTCATCAAAG control NA NA NA NA NA 118 505 0.0705421509585089 0.159871270434782 0.115206710696645 NA NA 0.957823657670608 0.995303404387539 NA NA -0.8872815067121 -0.835432133952757 NA 0.976563531029074 NA -0.861356820332428 NA TRUE NA NA NA NA NA NA NADSYN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NADSYN1 NA NA NA ENSG00000172890 ENSE00003600208 NA NA NA NA NA NA NA 2.45472937261485e-09 FALSE NA ENSE00001200124_000 ENSE00001200124 000 5 33683085 33683254 - 38 84 48 NA NA NA NA NA TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 NA NA NA NA NA NA TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT natural NA NA NA NA NA 1850 3027 0.995123056266906 0.969761451762771 0.982442254014839 NA NA 0.995123056266906 0.969761451762771 NA NA 0 0 NA 0.982442254014839 NA 0 NA FALSE NA NA NA NA NA NA ADAMTS12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS12 NA NA NA ENSG00000151388 ENSE00003625310 NA NA NA NA NA NA NA 1.53777100809711e-11 FALSE NA ENSE00001200124_001 ENSE00001200124 001 5 33683085 33683254 - 38 84 48 T C 33683104 412 151 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCGCTCTTCTGCTATATGTCCT 33682979 33683149 33682998 33682999 33682999 downstr_intron 19 1.51351351351351 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCGCTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 40 845 1 0.989792408289293 0.994896204144647 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00487694373309422 0.0200309565265218 NA 0.982442254014839 NA 0.012453950129808 NA FALSE NA 0 -0.024 . intron_variant MODIFIER ADAMTS12 HGNC 14605 ENST00000504830 5/23 1 NA GTG T,C 4.118e-05 5:33682999 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 intron_variant 0.169014 0.21592 0.05055 0.078448 0.496791721545625 0.119974 1.53777100809711e-11 FALSE 5.34355e-05 ENSE00001200124_002 ENSE00001200124 002 5 33683085 33683254 - 38 84 48 T C 33683117 413 138 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACGTTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683011 33683012 33683012 downstr_intron 6 1.16216216216216 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACGTTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 286 220 1 0.997896779688103 0.998948389844052 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00487694373309422 0.0281353279253318 NA 0.982442254014839 NA 0.016506135829213 NA FALSE NA 0.026 1.355 . splice_region_variant&intron_variant LOW ADAMTS12 HGNC 14605 ENST00000504830 5/23 1 NA ATG T,C 8.236e-06 5:33683012 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 splice_region_variant 0.479589 0.14314 0.0191 0.078448 0.698584622546935 0.20587 1.53777100809711e-11 FALSE 4.09893e-06 ENSE00001200124_003 ENSE00001200124 003 5 33683085 33683254 - 38 84 48 C T 33683125 414 130 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAAAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683019 33683020 33683020 exon -3 0.976190476190476 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAAAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 65 121 0.996138165194844 1 0.998069082597422 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00101510892793788 0.0302385482372286 NA 0.982442254014839 NA 0.0156268285825832 NA FALSE NA 1 5.694 . missense_variant&splice_region_variant MODERATE ADAMTS12 HGNC 14605 ENST00000504830 5/24 rs530621971 1 deleterious(0) probably_damaging(1) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCT C,T 8.237e-06 5:33683020 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 7.419824 0.99075 0.97359 0.615465 0.999306366570095 0 1.53777100809711e-11 FALSE 1.22889e-05 ENSE00001200124_005 ENSE00001200124 005 5 33683085 33683254 - 38 84 48 G A 33683135 416 120 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTTGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683029 33683030 33683030 exon -13 0.857142857142857 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTTGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 270 1297 0.992456662156612 1 0.996228331078306 NA NA 0.995123056266906 0.969761451762771 NA NA -0.00266639411029335 0.0302385482372286 NA 0.982442254014839 NA 0.0137860770634676 NA FALSE NA 0.479 -0.202 . synonymous_variant LOW ADAMTS12 HGNC 14605 ENST00000504830 5/24 rs201677780&COSM1067371 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 8.236e-06 5:33683030 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 synonymous_variant 1.369677 0.94863 0.11049 0.615465 0.74067088382796 0 1.53777100809711e-11 FALSE 1.22678e-05 ENSE00001200124_006 ENSE00001200124 006 5 33683085 33683254 - 38 84 48 A T 33683141 417 114 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATACTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683035 33683036 33683036 exon -19 0.785714285714286 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATACTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 732 465 0.907252599516076 0.984024211266647 0.945638405391362 NA NA 0.995123056266906 0.969761451762771 NA NA -0.0878704567508296 0.0142627595038755 NA 0.982442254014839 NA -0.0368038486234771 NA FALSE NA 1 1.534 . synonymous_variant LOW ADAMTS12 HGNC 14605 ENST00000504830 5/24 1 NA GAA A,T 8.236e-06 5:33683036 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 synonymous_variant -0.136599 0.98455 0.90345 0.615465 0.804128322347585 0 1.53777100809711e-11 FALSE 4.07717e-06 ENSE00001200124_007 ENSE00001200124 007 5 33683085 33683254 - 38 84 48 G A 33683146 418 109 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGTTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683040 33683041 33683041 exon -24 0.726190476190476 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGTTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 88 255 1 1 1 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00487694373309422 0.0302385482372286 NA 0.982442254014839 NA 0.0175577459851614 NA FALSE NA 1 9.455 rs142161205 missense_variant MODERATE ADAMTS12 HGNC 14605 ENST00000504830 5/24 rs142161205 1 deleterious(0) probably_damaging(1) A:0.0006 A:0 A:0 NA A:0 A:0.002 A:0.001 A:0 A:0.0006 AGC G,A 0.001013 5:33683041 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 6.498077 0.99492 0.99191 0.615465 0.999103689130078 0 1.53777100809711e-11 FALSE 0.00139397 ENSE00001200124_008 ENSE00001200124 008 5 33683085 33683254 - 38 84 48 C T 33683148 419 107 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCAGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683042 33683043 33683043 exon -26 0.702380952380952 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCAGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 725 1428 0.920447627892598 0.998272641103667 0.959360134498132 NA NA 0.995123056266906 0.969761451762771 NA NA -0.0746754283743082 0.0285111893408957 NA 0.982442254014839 NA -0.0230821195167062 NA FALSE NA 1 7.496 rs61754760 missense_variant MODERATE ADAMTS12 HGNC 14605 ENST00000504830 5/24 rs61754760&COSM3975500 1 deleterious(0) probably_damaging(1) NA T:0.0002 T:0 CCG C,T 8.236e-06 5:33683043 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 8.157098 0.99481 0.98677 0.615465 0.999633754263561 0 1.53777100809711e-11 FALSE 1.2243e-05 ENSE00001200124_010 ENSE00001200124 010 5 33683085 33683254 - 38 84 48 A G 33683151 421 104 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGCTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683045 33683046 33683046 exon -29 0.666666666666667 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGCTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 675 287 0.915931595026939 0.88285744720087 0.899394521113905 NA NA 0.995123056266906 0.969761451762771 NA NA -0.0791914612399666 -0.0869040045619014 NA 0.982442254014839 NA -0.083047732900934 NA FALSE NA 1 8.949 . missense_variant MODERATE ADAMTS12 HGNC 14605 ENST00000504830 5/24 rs533287424 1 deleterious(0) probably_damaging(0.999) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAC A,G 2.471e-05 5:33683046 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 6.264148 0.99317 0.99148 0.615465 0.998952880271178 0 1.53777100809711e-11 FALSE 1.62914e-05 ENSE00001200124_013 ENSE00001200124 013 5 33683085 33683254 - 38 84 48 T C 33683163 424 92 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCGCATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683057 33683058 33683058 exon -41 0.523809523809524 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCGCATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 25 202 1 1 1 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00487694373309422 0.0302385482372286 NA 0.982442254014839 NA 0.0175577459851614 NA FALSE NA 1 7.709 rs141413551 missense_variant MODERATE ADAMTS12 HGNC 14605 ENST00000504830 5/24 1 deleterious(0) probably_damaging(0.976) NA GTG T,C 8.236e-06 5:33683058 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 5.180817 0.99282 0.9853 0.615465 0.998289445553392 0 1.53777100809711e-11 FALSE 4.07325e-06 ENSE00001200124_015 ENSE00001200124 015 5 33683085 33683254 - 38 84 48 A G 33683178 426 77 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCACTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683072 33683073 33683073 exon 29 0.345238095238095 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCACTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 284 210 0.980792241396308 0.888520832591893 0.9346565369941 NA NA 0.995123056266906 0.969761451762771 NA NA -0.0143308148705981 -0.0812406191708788 NA 0.982442254014839 NA -0.0477857170207384 NA FALSE NA 1 8.949 . missense_variant MODERATE ADAMTS12 HGNC 14605 ENST00000504830 5/24 1 deleterious(0) probably_damaging(1) NA AAT A,G 2.471e-05 5:33683073 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 6.182916 0.9932 0.99148 0.615465 0.998715202262799 0 1.53777100809711e-11 FALSE 1.22227e-05 ENSE00001200124_016 ENSE00001200124 016 5 33683085 33683254 - 38 84 48 T C 33683179 427 76 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCGTTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683073 33683074 33683074 exon 28 0.333333333333333 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCGTTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 321 495 0.942429940834729 0.99581829787962 0.969124119357174 NA NA 0.995123056266906 0.969761451762771 NA NA -0.052693115432177 0.0260568461168484 NA 0.982442254014839 NA -0.0133181346576643 NA FALSE NA 1 7.709 . missense_variant MODERATE ADAMTS12 HGNC 14605 ENST00000504830 5/24 1 deleterious(0.02) probably_damaging(0.999) NA ATG T,C 8.236e-06 5:33683074 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 5.523277 0.99282 0.9853 0.615465 0.999184089828184 0 1.53777100809711e-11 FALSE 4.07465e-06 ENSE00001200124_018 ENSE00001200124 018 5 33683085 33683254 - 38 84 48 T C 33683190 429 65 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCGTAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683084 33683085 33683085 exon 17 0.202380952380952 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCGTAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 122 255 1 1 1 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00487694373309422 0.0302385482372286 NA 0.982442254014839 NA 0.0175577459851614 NA FALSE NA 1 5.955 rs147018630 missense_variant MODERATE ADAMTS12 HGNC 14605 ENST00000504830 5/24 rs147018630 1 deleterious(0) probably_damaging(0.998) NA C:0 C:0.0003 ATG T,C 5.765e-05 5:33683085 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 4.490574 0.99438 0.98183 0.615465 0.996499306628252 0 1.53777100809711e-11 FALSE 3.66808e-05 ENSE00001200124_021 ENSE00001200124 021 5 33683085 33683254 - 38 84 48 C T 33683198 432 57 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGATTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683092 33683093 33683093 exon 9 0.107142857142857 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGATTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 214 396 0.56818687110497 0.534572488168208 0.551379679636589 NA NA 0.995123056266906 0.969761451762771 NA NA -0.426936185161935 -0.435188963594563 NA 0.982442254014839 NA -0.431062574378249 NA FALSE NA 0 -1.512 . synonymous_variant LOW ADAMTS12 HGNC 14605 ENST00000504830 5/24 rs374745910 1 NA T:0 T:0.0001 ACC C,T 2.471e-05 5:33683093 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 synonymous_variant 1.609339 0.34216 0.03788 0.615465 0.542395156238461 0 1.53777100809711e-11 FALSE 1.63264e-05 ENSE00001200124_023 ENSE00001200124 023 5 33683085 33683254 - 38 84 48 T C 33683203 434 52 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCGCTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683097 33683098 33683098 exon 4 0.0476190476190476 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCGCTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 559 92 0.999926357280941 1 0.99996317864047 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00480330101403481 0.0302385482372286 NA 0.982442254014839 NA 0.0175209246256317 NA FALSE NA 0.992 2.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:33683098 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 missense_variant 0.331567 0.97191 0.7504 0.615465 0.449523868299211 0 1.53777100809711e-11 FALSE 4.08924e-06 ENSE00001200124_024 ENSE00001200124 024 5 33683085 33683254 - 38 84 48 G T 33683210 435 45 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCATAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683104 33683105 33683105 upstr_intron -4 -0.0625 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCATAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 376 1439 1 0.995701876546713 0.997850938273357 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00487694373309422 0.0259404247839418 NA 0.982442254014839 NA 0.015408684258518 NA FALSE NA 0.058 0.103 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:33683105 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 splice_region_variant 0.472641 0.21921 0.18443 0.053691 0.655402343100654 0.308027 1.53777100809711e-11 FALSE 4.11025e-06 ENSE00001200124_025 ENSE00001200124 025 5 33683085 33683254 - 38 84 48 G C 33683210 436 45 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCGTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683104 33683105 33683105 upstr_intron -4 -0.0625 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCGTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 47 747 0.999121090215259 1 0.999560545107629 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00399803394835319 0.0302385482372286 NA 0.982442254014839 NA 0.0171182910927909 NA FALSE NA 0.058 0.103 NA NA NA ADAMTS12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS12 NA NA NA ENSG00000151388 ENSE00003625310 splice_region_variant 0.344166 0.19974 0.12771 0.053691 0.635780247176346 0.308027 1.53777100809711e-11 FALSE 4.11025e-06 ENSE00001200124_026 ENSE00001200124 026 5 33683085 33683254 - 38 84 48 G A 33683212 437 43 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGATCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683106 33683107 33683107 upstr_intron -6 -0.104166666666667 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGATCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 322 661 0.997676526811281 0.991765173772433 0.994720850291857 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00255347054437571 0.0220037220096616 NA 0.982442254014839 NA 0.0122785962770187 NA FALSE NA 0 0.511 . splice_region_variant&intron_variant LOW ADAMTS12 HGNC 14605 ENST00000504830 4/23 1 NA GGT G,A 8.237e-06 5:33683107 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 splice_region_variant 0.764324 0.20878 0.10268 0.053691 0.569218643523015 0.420251 1.53777100809711e-11 FALSE 8.25239e-06 ENSE00001200124_028 ENSE00001200124 028 5 33683085 33683254 - 38 84 48 T C 33683220 439 35 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTGTTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683114 33683115 33683115 upstr_intron -14 -0.270833333333333 TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTGTTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 472 789 0.978195293841138 0.997245241047688 0.987720267444413 NA NA 0.995123056266906 0.969761451762771 NA NA -0.0169277624257675 0.0274837892849163 NA 0.982442254014839 NA 0.0052780134295744 NA FALSE NA 0 -1.853 . intron_variant MODIFIER ADAMTS12 HGNC 14605 ENST00000504830 4/23 1 NA ATA T,C 8.237e-06 5:33683115 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 intron_variant 0.581967 0.17511 0.03222 0.053691 0.597961785578112 0.322285 1.53777100809711e-11 FALSE NA ENSE00001200124_030 ENSE00001200124 030 5 33683085 33683254 - 38 84 48 C T 33683241 441 14 TTATTATCTCTTCATGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 33683135 33683136 33683136 upstr_intron -35 -0.708333333333333 TTATTATCTCTTCATGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT mutant NA NA NA NA NA 58 24 1 1 1 NA NA 0.995123056266906 0.969761451762771 NA NA 0.00487694373309422 0.0302385482372286 NA 0.982442254014839 NA 0.0175577459851614 NA FALSE NA 0.003 1.775 rs115115182 intron_variant MODIFIER ADAMTS12 HGNC 14605 ENST00000504830 4/23 rs115115182 1 T:0.0014 T:0.0045 T:0.0014 NA T:0 T:0 T:0 T:0.0032 T:0 ACG C,T 0.0004119 5:33683136 ADAMTS12 HGNC Symbol protein_coding 368657 ENSG00000151388 ENSE00003625310 intron_variant -0.007451 0.09267 0.00019 0.053691 0.587503970277768 0.0838493 1.53777100809711e-11 FALSE 0.000336611 ENSE00001200124_BRK ENSE00001200124 BRK 5 33683085 33683254 - 38 84 48 A,G; T,T NA NA NA TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTTTGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGCCAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT 33682979 33683149 NA NA NA NA NA NA TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTTTGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGCCAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT TTATTATCTCTTCGTGTGGAGCTAATGGTTTTCTATTTCTGACCCTAGGTCACTGGGTTGTTCCATAACCCAAGCATTGGCAATGCAATTCACATTGTTGTGGTTCGGCTCATTCTACTCGAAGAAGAAGAGGTAACATTTTTTCCCTTCACTCTTCTGCTATATGTCCT control NA NA NA NA NA 1489 433 0 0.000739359137101925 0.000369679568550963 NA NA 0.995123056266906 0.969761451762771 NA NA -0.995123056266906 -0.96902209262567 NA 0.982442254014839 NA -0.982072574446288 NA TRUE NA NA NA NA NA NA ADAMTS12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS12 NA NA NA ENSG00000151388 ENSE00003625310 NA NA NA NA NA NA NA 1.53777100809711e-11 FALSE NA ENSE00001201373_000 ENSE00001201373 000 4 652684 652853 + 57 66 47 NA NA NA NA NA GTCACCTTGTCCCACATGCGAAGCTCTTTCTCGTGACACATCTGTGTCTCTGTGTAGCCAACCAGAGCGCGCCTGGGGAAGGAGCCTGCTGACTGCGATGAGGACGAGCTGGGCGAAATCCTGGTAAGAACCTTGCTCCCGTCCCTCCCATGGAGGCCGGCCACGTGTGA 658894 659064 NA NA NA NA NA NA GTCACCTTGTCCCACATGCGAAGCTCTTTCTCGTGACACATCTGTGTCTCTGTGTAGCCAACCAGAGCGCGCCTGGGGAAGGAGCCTGCTGACTGCGATGAGGACGAGCTGGGCGAAATCCTGGTAAGAACCTTGCTCCCGTCCCTCCCATGGAGGCCGGCCACGTGTGA GTCACCTTGTCCCACATGCGAAGCTCTTTCTCGTGACACATCTGTGTCTCTGTGTAGCCAACCAGAGCGCGCCTGGGGAAGGAGCCTGCTGACTGCGATGAGGACGAGCTGGGCGAAATCCTGGTAAGAACCTTGCTCCCGTCCCTCCCATGGAGGCCGGCCACGTGTGA natural 13 16 0.85 0.980884486958581 0.915442243479291 130 598 0.97088578803223 0.979404985503867 0.975145386768049 0.85 0.980884486958581 0.97088578803223 0.979404985503867 0 0 0 0 0.915442243479291 0.975145386768049 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6B NA NA NA ENSG00000133256 ENSE00001201373 NA NA NA NA NA NA NA 1.62565147164988e-13 FALSE NA ENSE00001201373_012 ENSE00001201373 012 4 652684 652853 + 57 66 47 G T 652727 47 44 GTCACCTTGTCCCACATGCGAAGCTCTTTCTCGTGACACATCTTTGTCTCTGTGTAGCCAACCAGAGCGCGCCTGGGGAAGGAGCCTGCTGACTGCGATGAGGACGAGCTGGGCGAAATCCTGGTAAGAACCTTGCTCCCGTCCCTCCCATGGAGGCCGGCCACGTGTGA 658894 659064 658937 658938 658938 upstr_intron -14 -0.228070175438596 GTCACCTTGTCCCACATGCGAAGCTCTTTCTCGTGACACATCTTTGTCTCTGTGTAGCCAACCAGAGCGCGCCTGGGGAAGGAGCCTGCTGACTGCGATGAGGACGAGCTGGGCGAAATCCTGGTAAGAACCTTGCTCCCGTCCCTCCCATGGAGGCCGGCCACGTGTGA GTCACCTTGTCCCACATGCGAAGCTCTTTCTCGTGACACATCTGTGTCTCTGTGTAGCCAACCAGAGCGCGCCTGGGGAAGGAGCCTGCTGACTGCGATGAGGACGAGCTGGGCGAAATCCTGGTAAGAACCTTGCTCCCGTCCCTCCCATGGAGGCCGGCCACGTGTGA mutant NA NA NA NA NA 20 11 1 1 1 0.85 0.980884486958581 0.97088578803223 0.979404985503867 NA NA 0.0291142119677702 0.0205950144961328 0.915442243479291 0.975145386768049 NA 0.0248546132319515 NA FALSE NA 0.014 -0.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:658938 PDE6B HGNC Symbol protein_coding 45198 ENSG00000133256 ENSE00001201373 intron_variant -0.381577 0.10606 0.03588 0 0.758653051669124 0.0648462 1.62565147164988e-13 FALSE 4.07216e-06 ENSE00001201546_000 ENSE00001201546 000 X 17151899 17152068 + 48 84 38 NA NA NA NA NA GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 NA NA NA NA NA NA GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG natural 73 152 0.968446830581894 0.900649783563843 0.934548307072868 3789 2710 0.977000063089345 0.777132161426614 0.877066112257979 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 0 0 0 0 0.934548307072868 0.877066112257979 0 0 0 FALSE FALSE NA NA NA NA NA REPS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REPS2 NA NA NA ENSG00000169891 ENSE00003535244 NA NA NA NA NA NA NA 0.968427757558824 TRUE NA ENSE00001201546_001 ENSE00001201546 001 X 17151899 17152068 + 48 84 38 T C 17151909 153 11 GTGATTGTGGCTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133785 17133786 17133786 upstr_intron -38 -0.770833333333333 GTGATTGTGGCTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 491 441 1 0.995522955890693 0.997761477945347 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA 0.0229999369106554 0.218390794464079 0.934548307072868 0.877066112257979 NA 0.120695365687367 NA FALSE NA 0.055 0.947 . intron_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 2/5 1 NA GTT T,C 1.647e-05 X:17133786 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 intron_variant 0.074854 0.19873 0.16997 0 0.566062568562229 0.167834 0.968427757558824 TRUE NA ENSE00001201546_002 ENSE00001201546 002 X 17151899 17152068 + 48 84 38 C G 17151924 154 26 GTGATTGTGGTTTTGCATTTCTGTCGTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133800 17133801 17133801 upstr_intron -23 -0.458333333333333 GTGATTGTGGTTTTGCATTTCTGTCGTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 220 145 1 0.996513355764215 0.998256677882108 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA 0.0229999369106554 0.219381194337602 0.934548307072868 0.877066112257979 NA 0.121190565624128 NA FALSE NA 0 -0.2 . intron_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 2/5 rs371836012 1 NA G:0 G:0.0001 CCT C,G 2.471e-05 X:17133801 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 intron_variant -0.047359 0.20294 0.02047 0 0.427586761489228 0.155319 0.968427757558824 TRUE 1.12238e-05 ENSE00001201546_004 ENSE00001201546 004 X 17151899 17152068 + 48 84 38 T C 17151927 156 29 GTGATTGTGGTTTTGCATTTCTGTCCTCCCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133803 17133804 17133804 upstr_intron -20 -0.395833333333333 GTGATTGTGGTTTTGCATTTCTGTCCTCCCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 624 95 0.851619124717903 0.979383371594163 0.915501248156033 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA -0.125380938371441 0.202251210167549 0.934548307072868 0.877066112257979 NA 0.0384351358980537 NA FALSE NA 0.003 0.362 . intron_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 2/5 1 NA CTC T,C 8.236e-06 X:17133804 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 intron_variant -0.072968 0.26305 0.04785 0 0.514112392803099 0.155319 0.968427757558824 TRUE 5.60554e-06 ENSE00001201546_005 ENSE00001201546 005 X 17151899 17152068 + 48 84 38 T C 17151934 157 36 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGACCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133810 17133811 17133811 upstr_intron -13 -0.25 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGACCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 1284 96 0.95369479670501 0.989495798631093 0.971595297668052 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA -0.0233052663843342 0.212363637204479 0.934548307072868 0.877066112257979 NA 0.0945291854100727 NA FALSE NA 0.939 1.994 . intron_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 2/5 1 NA ATC T,C 1.647e-05 X:17133811 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 intron_variant 0.060741 0.21261 0.49313 0 0.639214845371582 0.218899 0.968427757558824 TRUE 5.6029e-06 ENSE00001201546_006 ENSE00001201546 006 X 17151899 17152068 + 48 84 38 G A 17151958 158 60 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTATCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133834 17133835 17133835 exon 12 0.142857142857143 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTATCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 409 251 0.999293526285215 1 0.999646763142607 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA 0.0222934631958702 0.222867838573386 0.934548307072868 0.877066112257979 NA 0.122580650884628 NA FALSE NA 0 -0.988 rs145446587 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 3/6 rs145446587 1 NA A:0.0013 A:0 TGT G,A 2.471e-05 X:17133835 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 synonymous_variant -0.049837 0.06076 0.00648 0 0.52492049109117 0 0.968427757558824 TRUE 1.6789e-05 ENSE00001201546_007 ENSE00001201546 007 X 17151899 17152068 + 48 84 38 C T 17151960 159 62 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTTGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133836 17133837 17133837 exon 14 0.166666666666667 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTTGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 138 114 1 0.99553868390636 0.99776934195318 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA 0.0229999369106554 0.218406522479747 0.934548307072868 0.877066112257979 NA 0.120703229695201 NA FALSE NA 0.006 1.368 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 3/6 1 NA TCG C,T 8.236e-06 X:17133837 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 missense_variant 1.998338 0.24521 0.07767 0 0.980044180514435 0 0.968427757558824 TRUE 2.23885e-05 ENSE00001201546_008 ENSE00001201546 008 X 17151899 17152068 + 48 84 38 G A 17151961 160 63 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCAGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133837 17133838 17133838 exon 15 0.178571428571429 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCAGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 887 50 0.936718939271991 1 0.968359469635995 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA -0.0402811238173539 0.222867838573386 0.934548307072868 0.877066112257979 NA 0.0912933573780161 NA FALSE NA 0.002 -1.28 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 3/6 1 NA CGG G,A 2.471e-05 X:17133838 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 synonymous_variant 0.145356 0.11474 0.01128 0 0.457719512511776 0 0.968427757558824 TRUE 1.67911e-05 ENSE00001201546_009 ENSE00001201546 009 X 17151899 17152068 + 48 84 38 G A 17151962 161 64 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGAAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133838 17133839 17133839 exon 16 0.19047619047619 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGAAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 531 721 0.990676211177007 0.997259256766621 0.993967733971814 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA 0.0136761480876626 0.220127095340008 0.934548307072868 0.877066112257979 NA 0.116901621713835 NA FALSE NA 1 3.852 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 3/6 1 NA GGA G,A 0.0001318 X:17133839 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 missense_variant 1.449735 0.66128 0.78043 0 0.868371624855407 0 0.968427757558824 TRUE 8.39471e-05 ENSE00001201546_010 ENSE00001201546 010 X 17151899 17152068 + 48 84 38 C T 17151967 162 69 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCTGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133843 17133844 17133844 exon 21 0.25 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCTGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 46 293 1 1 1 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA 0.0229999369106554 0.222867838573386 0.934548307072868 0.877066112257979 NA 0.122933887742021 NA FALSE NA 0.001 -3.117 rs189730135 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 3/6 rs189730135 1 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 0.000173 X:17133844 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 synonymous_variant 1.236421 0.05389 0.00283 0 0.286804928705782 0 0.968427757558824 TRUE 0.0001623 ENSE00001201546_012 ENSE00001201546 012 X 17151899 17152068 + 48 84 38 T G 17151984 164 86 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCGGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133860 17133861 17133861 exon 38 0.452380952380952 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCGGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 460 670 1 1 1 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA 0.0229999369106554 0.222867838573386 0.934548307072868 0.877066112257979 NA 0.122933887742021 NA FALSE NA 1 2.058 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 3/6 1 NA CTG T,G 8.236e-06 X:17133861 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 missense_variant 2.684588 0.96865 0.78824 0 0.9950513656182 0 0.968427757558824 TRUE 5.59547e-06 ENSE00001201546_013 ENSE00001201546 013 X 17151899 17152068 + 48 84 38 A G 17152013 165 115 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAGGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133889 17133890 17133890 exon -18 0.797619047619048 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAGGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 28 429 1 0.99646350907926 0.99823175453963 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA 0.0229999369106554 0.219331347652646 0.934548307072868 0.877066112257979 NA 0.121165642281651 NA FALSE NA 0.964 0.431 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER REPS2 HGNC 9963 ENST00000469714 3/6 1 NA AAG A,G 4.942e-05 X:17133890 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 missense_variant 0.908555 0.96104 0.5462 0 0.976760679744533 0 0.968427757558824 TRUE 7.27582e-05 ENSE00001201546_014 ENSE00001201546 014 X 17151899 17152068 + 48 84 38 A G 17152029 166 131 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAGGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 17133905 17133906 17133906 exon -2 0.988095238095238 GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAGGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG mutant NA NA NA NA NA 458 755 0.72596472901839 0.800334878546355 0.763149803782373 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA -0.251035334070954 0.0232027171197411 0.934548307072868 0.877066112257979 NA -0.113916308475607 NA FALSE NA 1 3.568 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW REPS2 HGNC 9963 ENST00000469714 3/6 1 NA AAG A,G 8.236e-06 X:17133906 REPS2 HGNC Symbol protein_coding 206589 ENSG00000169891 ENSE00003535244 missense_variant 2.128972 0.97513 0.88304 0 0.977956300016157 0 0.968427757558824 TRUE NA ENSE00001201546_BRK ENSE00001201546 BRK X 17151899 17152068 + 48 84 38 A,G; T,T NA NA NA GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACTTTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGCCAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG 17133775 17133945 NA NA NA NA NA NA GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACTTTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGCCAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG GTGATTGTGGTTTTGCATTTCTGTCCTCTCTCTGATCTCTTGCTACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGTAAGGTCAGCCTGAGGATGCTGTCAGATGGCGTTGCG control NA NA NA NA NA 593 507 0.00666351774185254 0.0523948322195817 0.0295291749807171 0.968446830581894 0.900649783563843 0.977000063089345 0.777132161426614 NA NA -0.970336545347492 -0.724737329207032 0.934548307072868 0.877066112257979 NA -0.847536937277262 NA TRUE NA NA NA NA NA NA REPS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REPS2 NA NA NA ENSG00000169891 ENSE00003535244 NA NA NA NA NA NA NA 0.968427757558824 TRUE NA ENSE00001203123_000 ENSE00001203123 000 16 78005699 78005868 + 48 84 38 NA NA NA NA NA CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 NA NA NA NA NA NA GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG natural 118 110 0.988670406205448 0.978924996579864 0.983797701392656 2751 3750 0.917940520683664 0.991744793303144 0.954842656993404 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 0 0 0 0 0.983797701392656 0.954842656993404 0 0 0 FALSE FALSE NA NA NA NA NA VAT1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAT1L NA NA NA ENSG00000171724 ENSE00001203123 NA NA NA NA NA NA NA 1.89787043215691e-05 FALSE NA ENSE00001203123_001 ENSE00001203123 001 16 78005699 78005868 + 48 84 38 G A 78005709 2931 11 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGTGAGATGTTCC 77971801 77971971 77971811 77971812 77971812 upstr_intron -38 -0.770833333333333 GGAACATCTCACCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 457 922 0.999277354726978 1 0.999638677363489 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.081336834043314 0.00825520669685564 0.983797701392656 0.954842656993404 NA 0.0447960203700848 NA FALSE NA 0 -1.342 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 7/8 1 NA CGC G,A 1.647e-05 16:77971812 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.224683 0.18946 0.00197 0 0.89798230573435 0.0483552 1.89787043215691e-05 FALSE 1.28755e-05 ENSE00001203123_002 ENSE00001203123 002 16 78005699 78005868 + 48 84 38 A C 78005713 2932 15 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTGAGGCGAGATGTTCC 77971801 77971971 77971815 77971816 77971816 upstr_intron -34 -0.6875 GGAACATCTCGCCTCACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 97 190 0.994794943506916 0.988165281497861 0.991480112502389 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0768544228232525 -0.00357951180528338 0.983797701392656 0.954842656993404 NA 0.0366374555089846 NA FALSE NA 0.082 1.535 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 7/8 rs376314768 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 TAA A,C 1.647e-05 16:77971816 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.333071 0.56829 0.34819 0 0.691946531550183 0.0476046 1.89787043215691e-05 FALSE 1.2649e-05 ENSE00001203123_003 ENSE00001203123 003 16 78005699 78005868 + 48 84 38 C T 78005721 2933 23 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGATGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971823 77971824 77971824 upstr_intron -26 -0.520833333333333 GGAACATCTCGCCTAACCAGCATCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 15 17 0.985370247472479 0.997292215818604 0.991331231645542 NA NA NA NA NA 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 -0.00330015873296863 0.0183672192387403 NA NA 0.983797701392656 0.954842656993404 0.00753353025288583 NA NA NA FALSE 0 -1.252 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 7/8 1 NA ACC C,T 9.06e-05 16:77971824 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.400877 0.1507 0.00299 0 0.815777146077855 0.04014 1.89787043215691e-05 FALSE 6.64479e-05 ENSE00001203123_004 ENSE00001203123 004 16 78005699 78005868 + 48 84 38 C T 78005724 2934 26 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAAAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971826 77971827 77971827 upstr_intron -23 -0.458333333333333 GGAACATCTCGCCTAACCAGCACCTTTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 242 526 1 0.999273188968236 0.999636594484118 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0820594793163361 0.00752839566509167 0.983797701392656 0.954842656993404 NA 0.0447939374907139 NA FALSE NA 0 -0.543 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 7/8 1 NA TCT C,T 8.236e-06 16:77971827 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.462844 0.25302 0.01157 0 0.78266722785445 0.054574 1.89787043215691e-05 FALSE 4.14374e-06 ENSE00001203123_005 ENSE00001203123 005 16 78005699 78005868 + 48 84 38 C T 78005732 2935 34 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTAAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971834 77971835 77971835 upstr_intron -15 -0.291666666666667 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTTACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 74 1071 0.997922659355179 1 0.998961329677589 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.079982138671515 0.00825520669685564 0.983797701392656 0.954842656993404 NA 0.0441186726841853 NA FALSE NA 0 -1.805 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 7/8 1 NA TCA C,T 8.236e-06 16:77971835 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.26786 0.17838 0.0134 0 0.750791618007963 0.054574 1.89787043215691e-05 FALSE 4.11994e-06 ENSE00001203123_006 ENSE00001203123 006 16 78005699 78005868 + 48 84 38 C T 78005734 2936 36 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGATGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971836 77971837 77971837 upstr_intron -13 -0.25 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCATCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 123 472 1 0.999189613906854 0.999594806953427 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0820594793163361 0.00744482060370955 0.983797701392656 0.954842656993404 NA 0.0447521499600228 NA FALSE NA 0 -0.035 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 7/8 1 NA ACC C,T 8.236e-06 16:77971837 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.593895 0.2789 0.03556 0 0.69819760863232 0.0551813 1.89787043215691e-05 FALSE 4.11489e-06 ENSE00001203123_007 ENSE00001203123 007 16 78005699 78005868 + 48 84 38 C T 78005735 2937 37 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAAGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971837 77971838 77971838 upstr_intron -12 -0.229166666666667 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACTTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 777 398 0.99952234249834 0.99960242520657 0.999562383852455 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0815818218146763 0.00785763190342592 0.983797701392656 0.954842656993404 NA 0.0447197268590511 NA FALSE NA 0 -0.059 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 7/8 rs202190614 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0014 T:0 CCT C,T 0.0001153 16:77971838 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.497258 0.281 0.01233 0 0.730220538073399 0.0551813 1.89787043215691e-05 FALSE 7.82357e-05 ENSE00001203123_008 ENSE00001203123 008 16 78005699 78005868 + 48 84 38 T G 78005736 2938 38 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAACGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971838 77971839 77971839 upstr_intron -11 -0.208333333333333 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCGTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 62 53 0.959910765282703 0.946047585325015 0.952979175303859 NA NA NA NA NA 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 -0.0287596409227444 -0.0328774112548489 NA NA 0.983797701392656 0.954842656993404 -0.0308185260887966 NA NA NA FALSE 0 0.553 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:77971839 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.249024 0.24767 0.02072 0 0.28843108927269 0.096745 1.89787043215691e-05 FALSE 4.11228e-06 ENSE00001203123_009 ENSE00001203123 009 16 78005699 78005868 + 48 84 38 T A 78005736 2939 38 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAATGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971838 77971839 77971839 upstr_intron -11 -0.208333333333333 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCATTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 242 159 0.996197634405665 1 0.998098817202832 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0782571137220009 0.00825520669685564 0.983797701392656 0.954842656993404 NA 0.0432561602094283 NA FALSE NA 0 0.553 NA NA NA VAT1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAT1L NA NA NA ENSG00000171724 ENSE00001203123 intron_variant 0.456939 0.24638 0.02032 0 0.363590627848755 0.096745 1.89787043215691e-05 FALSE 1.64491e-05 ENSE00001203123_010 ENSE00001203123 010 16 78005699 78005868 + 48 84 38 G A 78005741 2940 43 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGTGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971843 77971844 77971844 upstr_intron -6 -0.104166666666667 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCACGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 165 1338 0.997987425706025 0.999257035058608 0.998622230382317 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0800469050223613 0.00751224175546383 0.983797701392656 0.954842656993404 NA 0.0437795733889126 NA FALSE NA 0.63 1.466 rs192687858 splice_region_variant&intron_variant LOW VAT1L HGNC 29315 ENST00000302536 7/8 rs192687858 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0014 A:0.0002 CGC G,A 0.0001647 16:77971844 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 splice_region_variant -0.083798 0.30346 0.26633 0.208312 0.828795496436441 0.196878 1.89787043215691e-05 FALSE 0.000102549 ENSE00001203123_011 ENSE00001203123 011 16 78005699 78005868 + 48 84 38 G A 78005743 2941 45 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGTGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971845 77971846 77971846 upstr_intron -4 -0.0625 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCACAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 141 409 0.998617314296583 0.953467686906399 0.976042500601491 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0806767936129195 -0.0382771063967456 0.983797701392656 0.954842656993404 NA 0.0211998436080869 NA FALSE NA 0.003 -0.536 . splice_region_variant&intron_variant LOW VAT1L HGNC 29315 ENST00000302536 7/8 rs368071290 1 NA A:0.0005 A:0.0001 CGC G,A 9.884e-05 16:77971846 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 splice_region_variant -0.097726 0.20298 0.016 0.208312 0.843074279152048 0.133306 1.89787043215691e-05 FALSE 8.6197e-05 ENSE00001203123_015 ENSE00001203123 015 16 78005699 78005868 + 48 84 38 A G 78005750 2945 52 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTCCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971852 77971853 77971853 exon 4 0.0476190476190476 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGGAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 32 36 0.880724835081171 0.97272626303843 0.9267255490598 86 781 1 1 1 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 -0.107945571124276 -0.00619873354143463 0.0820594793163361 0.00825520669685564 0.983797701392656 0.954842656993404 -0.0570721523328556 0.0451573430065959 0.102229495339451 FALSE FALSE 1 8.893 . missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 1 tolerated(0.17) benign(0.124) NA GAA A,G 8.236e-06 16:77971853 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 3.362851 0.96996 0.94338 0.631981 0.995734923664285 0 1.89787043215691e-05 FALSE 4.07515e-06 ENSE00001203123_016 ENSE00001203123 016 16 78005699 78005868 + 48 84 38 T C 78005760 2946 62 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCGTGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971862 77971863 77971863 exon 14 0.166666666666667 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCACGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 11 18 1 1 1 184 463 0.99894116487301 0.997062035170852 0.998001600021931 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 0.0113295937945522 0.0210750034201358 0.0810006441893462 0.0053172418677081 0.983797701392656 0.954842656993404 0.016202298607344 0.0431589430285271 0.0269566444211831 FALSE FALSE 1 7.64 rs144055965 missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 rs144055965 1 deleterious(0) possibly_damaging(0.688) NA C:0 C:0.0001 ATG T,C 2.471e-05 16:77971863 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 5.980293 0.9683 0.92147 0.631981 0.988248228641094 0 1.89787043215691e-05 FALSE 8.13974e-06 ENSE00001203123_017 ENSE00001203123 017 16 78005699 78005868 + 48 84 38 G A 78005761 2947 63 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGTATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971863 77971864 77971864 exon 15 0.178571428571429 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATACAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 45 1012 0.995640412462748 0.999843691418247 0.997742051940497 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0776998917790839 0.00809889811510245 0.983797701392656 0.954842656993404 NA 0.0428993949470932 NA FALSE NA 1 9.403 . missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 1 deleterious(0.04) benign(0.032) NA TGC G,A 8.236e-06 16:77971864 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 4.248456 0.97435 0.94106 0.631981 0.993100820805729 0 1.89787043215691e-05 FALSE 1.22112e-05 ENSE00001203123_019 ENSE00001203123 019 16 78005699 78005868 + 48 84 38 G C 78005774 2949 76 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTGGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971876 77971877 77971877 exon 28 0.333333333333333 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACCACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 464 123 0.996590293401369 1 0.998295146700685 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0786497727177055 0.00825520669685564 0.983797701392656 0.954842656993404 NA 0.0434524897072806 NA FALSE NA 1 9.403 . missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 COSM1709445 1 deleterious(0) probably_damaging(0.986) NA CGA G,C 8.236e-06 16:77971877 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 7.049823 0.97537 0.94894 0.631981 0.995462913465282 0 1.89787043215691e-05 FALSE 4.06904e-06 ENSE00001203123_020 ENSE00001203123 020 16 78005699 78005868 + 48 84 38 C A 78005777 2950 79 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCTGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971879 77971880 77971880 exon 31 0.369047619047619 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACAGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 460 261 0.941761257240508 0.997180566059613 0.96947091165006 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0238207365568441 0.00543577275646845 0.983797701392656 0.954842656993404 NA 0.0146282546566563 NA FALSE NA 1 2.149 . synonymous_variant LOW VAT1L HGNC 29315 ENST00000302536 8/9 rs547084878 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CCG C,A 8.236e-06 16:77971880 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 synonymous_variant 3.367995 0.93107 0.46138 0.631981 0.870657037718844 0 1.89787043215691e-05 FALSE NA ENSE00001203123_022 ENSE00001203123 022 16 78005699 78005868 + 48 84 38 C T 78005785 2952 87 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATATTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971887 77971888 77971888 exon 39 0.464285714285714 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAATATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 75 80 0.989845670232746 0.968494308499969 0.979169989366357 NA NA NA NA NA 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 0.00117526402729773 -0.0104306880798952 NA NA 0.983797701392656 0.954842656993404 -0.00462771202629875 NA NA NA FALSE 1 0.762 . synonymous_variant LOW VAT1L HGNC 29315 ENST00000302536 8/9 1 NA ACA C,T 3.295e-05 16:77971888 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 synonymous_variant 2.101808 0.92824 0.46044 0.631981 0.899341686625551 0 1.89787043215691e-05 FALSE 3.25433e-05 ENSE00001203123_024 ENSE00001203123 024 16 78005699 78005868 + 48 84 38 A T 78005793 2954 95 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACATGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971895 77971896 77971896 exon -38 0.55952380952381 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCATGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 811 1863 0.998004007365531 0.999302420048517 0.998653213707024 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0800634866818667 0.00755762674537241 0.983797701392656 0.954842656993404 NA 0.0438105567136196 NA FALSE NA 1 8.71 . missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 1 deleterious(0) probably_damaging(0.99) NA AAG A,T 8.236e-06 16:77971896 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 7.069035 0.96715 0.92392 0.631981 0.995904006578176 0 1.89787043215691e-05 FALSE 4.06762e-06 ENSE00001203123_027 ENSE00001203123 027 16 78005699 78005868 + 48 84 38 A G 78005805 2957 107 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACACCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971907 77971908 77971908 exon -26 0.702380952380952 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGGTGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 460 1136 0.999461976802857 0.996645884860816 0.998053930831836 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0815214561191928 0.00490109155767116 0.983797701392656 0.954842656993404 NA 0.043211273838432 NA FALSE NA 1 8.71 . missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 1 deleterious(0.01) possibly_damaging(0.51) NA GAT A,G 8.236e-06 16:77971908 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 5.283678 0.96697 0.92225 0.65861 0.996249211483498 0 1.89787043215691e-05 FALSE 4.06884e-06 ENSE00001203123_028 ENSE00001203123 028 16 78005699 78005868 + 48 84 38 T C 78005808 2958 110 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTGCATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971910 77971911 77971911 exon -23 0.738095238095238 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGCAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 685 56 0.996338591418224 1 0.998169295709112 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.07839807073456 0.00825520669685564 0.983797701392656 0.954842656993404 NA 0.0433266387157078 NA FALSE NA 1 7.483 . missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 1 tolerated(0.28) benign(0.013) NA GTA T,C 8.236e-06 16:77971911 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 3.068591 0.96545 0.88822 0.65861 0.975028504543033 0 1.89787043215691e-05 FALSE 4.06884e-06 ENSE00001203123_029 ENSE00001203123 029 16 78005699 78005868 + 48 84 38 C A 78005817 2959 119 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGTTGGGTTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971919 77971920 77971920 exon -14 0.845238095238095 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGAACCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 74 33 0.953748963016 0.985706864111881 0.969727913563941 NA NA NA NA NA 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 -0.0349214431894475 0.00678186753201704 NA NA 0.983797701392656 0.954842656993404 -0.0140697878287152 NA NA NA FALSE 1 7.279 . missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 1 tolerated(0.27) benign(0.013) NA ACC C,A 1.647e-05 16:77971920 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 3.530325 0.9711 0.89749 0.65861 0.976026270598661 0 1.89787043215691e-05 FALSE 8.14266e-06 ENSE00001203123_030 ENSE00001203123 030 16 78005699 78005868 + 48 84 38 A C 78005822 2960 124 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTGGAGGTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971924 77971925 77971925 exon -9 0.904761904761905 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCACCTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 166 949 1 0.989026860741327 0.994513430370663 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0820594793163361 -0.00271793256181785 0.983797701392656 0.954842656993404 NA 0.0396707733772591 NA FALSE NA 1 8.71 . missense_variant MODERATE VAT1L HGNC 29315 ENST00000302536 8/9 COSM1744716 1 tolerated(0.1) benign(0.228) NA AAC A,C 8.236e-06 16:77971925 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 3.566421 0.9657 0.91871 0.65861 0.995202519153474 0 1.89787043215691e-05 FALSE 4.07495e-06 ENSE00001203123_031 ENSE00001203123 031 16 78005699 78005868 + 48 84 38 C T 78005826 2961 128 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACCAGTAGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971928 77971929 77971929 exon -5 0.952380952380952 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCTACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 22 36 0.994590913579597 0.989327644019037 0.991959278799317 298 307 0.847902888247516 1 0.923951444123758 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 0.00592050737414951 0.0104026474391724 -0.0700376324361478 0.00825520669685564 0.983797701392656 0.954842656993404 0.00816157740666096 -0.0308912128696461 0.039052790276307 FALSE FALSE 1 7.279 NA NA NA VAT1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:77971929 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 missense_variant 7.356713 0.97126 0.8782 0.65861 0.998963096929216 0 1.89787043215691e-05 FALSE 8.1578e-06 ENSE00001203123_033 ENSE00001203123 033 16 78005699 78005868 + 48 84 38 G A 78005830 2963 132 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCACTAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971932 77971933 77971933 exon -1 1 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTAGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 16 15 0.998850954187859 0.989086632829494 0.993968793508677 790 125 0.957287632378246 1 0.978643816189123 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 0.0101805479824116 0.01016163624963 0.0393471116945823 0.00825520669685564 0.983797701392656 0.954842656993404 0.0101710921160208 0.023801159195719 0.0136300670796982 FALSE FALSE 1 7.382 . splice_region_variant&synonymous_variant LOW VAT1L HGNC 29315 ENST00000302536 8/9 1 NA TGG G,A 8.236e-06 16:77971933 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 splice_region_variant 1.799925 0.97252 0.88422 0.65861 0.936687986173472 0 1.89787043215691e-05 FALSE 2.04222e-05 ENSE00001203123_035 ENSE00001203123 035 16 78005699 78005868 + 48 84 38 G A 78005833 2965 135 CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTTACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971935 77971936 77971936 downstr_intron 3 1.08108108108108 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTAAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 700 212 1 0.99925326496788 0.99962663248394 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0820594793163361 0.00750847166473601 0.983797701392656 0.954842656993404 NA 0.044783975490536 NA FALSE NA 1 1.271 . splice_region_variant&intron_variant LOW VAT1L HGNC 29315 ENST00000302536 8/8 rs201720286 1 A:0.0014 A:0 A:0.0014 NA A:0 A:0.002 A:0.0041 A:0 A:0.0016 TGA G,A 0.001384 16:77971936 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 splice_region_variant 1.450258 0.9089 0.43756 0.208312 0.889633490669902 0.428426 1.89787043215691e-05 FALSE 0.00127107 ENSE00001203123_037 ENSE00001203123 037 16 78005699 78005868 + 48 84 38 A G 78005838 2967 140 CGCGTGGAACTGAACAGACTCCTCTGCTTTCCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971940 77971941 77971941 downstr_intron 8 1.21621621621622 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGGAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant 26 11 0.956061293911 0.991645571697605 0.973853432804302 138 1177 0.998887698772205 0.999252839605407 0.999070269188806 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 -0.0326091122944481 0.0127205751177411 0.0809471780885415 0.00750804630226309 0.983797701392656 0.954842656993404 -0.00994426858835351 0.0442276121954023 0.0541718807837558 FALSE FALSE 0 -0.998 . splice_region_variant&intron_variant LOW VAT1L HGNC 29315 ENST00000302536 8/8 1 NA GAA A,G 8.236e-06 16:77971941 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 splice_region_variant 0.498286 0.20316 0.03007 0.088285 0.70227170970546 0.224946 1.89787043215691e-05 FALSE 4.0943e-06 ENSE00001203123_038 ENSE00001203123 038 16 78005699 78005868 + 48 84 38 G A 78005847 2968 149 CGCGTGGAACTGAACAGACTCTTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971949 77971950 77971950 downstr_intron 17 1.45945945945946 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAAGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 285 332 0.993483743930929 1 0.996741871965464 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.075543223247265 0.00825520669685564 0.983797701392656 0.954842656993404 NA 0.0418992149720603 NA FALSE NA 0.107 0.565 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 8/8 1 NA AGG G,A 8.236e-06 16:77971950 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.468713 0.16586 0.14535 0.088285 0.781895151248424 0.167887 1.89787043215691e-05 FALSE NA ENSE00001203123_039 ENSE00001203123 039 16 78005699 78005868 + 48 84 38 G C 78005848 2969 150 CGCGTGGAACTGAACAGACTGCTCTGCTTTTCACTCACCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACCTGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 77971950 77971951 77971951 downstr_intron 18 1.48648648648649 GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGCAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG mutant NA NA NA NA NA 1132 166 0.998460155604701 0.944795513220045 0.971627834412373 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 NA NA 0.0805196349210375 -0.0469492800830995 0.983797701392656 0.954842656993404 NA 0.016785177418969 NA FALSE NA 0.041 0.354 . intron_variant MODIFIER VAT1L HGNC 29315 ENST00000302536 8/8 1 NA GGA G,C 5.765e-05 16:77971951 VAT1L HGNC Symbol protein_coding 191577 ENSG00000171724 ENSE00001203123 intron_variant 0.157065 0.20741 0.17741 0.088285 0.542512310730862 0.167887 1.89787043215691e-05 FALSE 6.59859e-05 ENSE00001203123_BRK ENSE00001203123 BRK 16 78005699 78005868 + 48 84 38 A,G; T,T NA NA NA CGCGTGGAACTGAACAGACTCCTCTGCTTTTCACTCGGCAGTGGAGTTGGGGTCTTTTCTACATCCAGAATTAACTTGCCAATGTTCCCTCGGTCGTGAATCCGCTGCATGGCCTCCTTCACAAGCGCGAAAAGGTGAGAAACAGAGGTGCTGGTTAGGCGAGATGTTCC 77971801 77971971 NA NA NA NA NA NA GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCTTGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGCCGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG GGAACATCTCGCCTAACCAGCACCTCTGTTTCTCACCTTTTCGCGCAGGTGAAGGAGGCCATGCAGCGGATTCACGACCGAGGGAACATTGGCAAGTTAATTCTGGATGTAGAAAAGACCCCAACTCCACTGGTGAGTGAAAAGCAGAGGAGTCTGTTCAGTTCCACGCG control 117 186 0.107595904496263 0 0.0537979522481313 NA NA NA NA NA 0.988670406205448 0.978924996579864 0.917940520683664 0.991744793303144 -0.881074501709185 -0.978924996579864 NA NA 0.983797701392656 0.954842656993404 -0.929999749144525 NA NA NA TRUE NA NA NA NA NA VAT1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAT1L NA NA NA ENSG00000171724 ENSE00001203123 NA NA NA NA NA NA NA 1.89787043215691e-05 FALSE NA ENSE00001203286_000 ENSE00001203286 000 16 46717390 46717559 - 30 99 41 NA NA NA NA NA CAACTGTGCCTCCCACATCTCCATTCTTACCAGGCATCTCTTCATTTGGAATGACTGGACCTTCACAGCCTGTATGGCTTCATCCAAGAGCTTTTCCTGCTCATCCTGAGGGGACTGCTGTGTTGTAGGCTGAAAAATAAAAAATTCCACTGATGTCTCAAGCACATTCT 46683477 46683647 NA NA NA NA NA NA AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG natural 154 220 0.990032632156329 0.972305712515538 0.981169172335934 3477 3110 0.988807934871807 0.850761254592795 0.919784594732301 0.990032632156329 0.972305712515538 0.988807934871807 0.850761254592795 0 0 0 0 0.981169172335934 0.919784594732301 0 0 0 FALSE FALSE NA NA NA NA NA VPS35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35 NA NA NA ENSG00000069329 ENSE00003647410 NA NA NA NA NA NA NA 0.993599132125856 TRUE NA ENSE00001203286_002 ENSE00001203286 002 16 46717390 46717559 - 30 99 41 A T 46717433 1512 127 CAACTGTGCCTCCCACATCTCCATTCTTACCAGGCATCTCTTCTTTTGGAATGACTGGACCTTCACAGCCTGTATGGCTTCATCCAAGAGCTTTTCCTGCTCATCCTGAGGGGACTGCTGTGTTGTAGGCTGAAAAATAAAAAATTCCACTGATGTCTCAAGCACATTCT 46683477 46683647 46683520 46683521 46683521 exon -14 0.868686868686869 AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAAAGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG mutant 17 17 0.971791071596587 1 0.985895535798294 NA NA NA NA NA 0.990032632156329 0.972305712515538 0.988807934871807 0.850761254592795 -0.018241560559742 0.0276942874844619 NA NA 0.981169172335934 0.919784594732301 0.00472636346235994 NA NA NA FALSE 1 9.261 rs145147781 upstream_gene_variant MODIFIER VPS35 HGNC 13487 ENST00000563884 rs145147781 1 NA T:0.0002 T:0 CAT .,T 0.0001235 16:46683521 VPS35 HGNC Symbol protein_coding 33386 ENSG00000069329 ENSE00003647410 missense_variant 6.079378 0.99046 0.98771 0.706548 0.890676586545211 0 0.993599132125856 TRUE 0.000113798 ENSE00001203286_005 ENSE00001203286 005 16 46717390 46717559 - 30 99 41 A G 46717476 1515 84 CAACTGTGCCTCCCACATCTCCATTCTTACCAGGCATCTCTTCATTTGGAATGACTGGACCTTCACAGCCTGTATGGCTTCATCCAGGAGCTTTTCCTGCTCATCCTGAGGGGACTGCTGTGTTGTAGGCTGAAAAATAAAAAATTCCACTGATGTCTCAAGCACATTCT 46683477 46683647 46683563 46683564 46683564 exon 43 0.434343434343434 AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCCTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG mutant NA NA NA NA NA 47 849 1 0.999955162120875 0.999977581060437 0.990032632156329 0.972305712515538 0.988807934871807 0.850761254592795 NA NA 0.0111920651281932 0.14919390752808 0.981169172335934 0.919784594732301 NA 0.0801929863281367 NA FALSE NA 1 3.383 . upstream_gene_variant MODIFIER VPS35 HGNC 13487 ENST00000563884 rs542307781 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAG A,G 1.647e-05 16:46683564 VPS35 HGNC Symbol protein_coding 33386 ENSG00000069329 ENSE00003647410 synonymous_variant 0.504182 0.95964 0.53049 0.706548 0.71244276793473 0 0.993599132125856 TRUE 8.13292e-06 ENSE00001203286_006 ENSE00001203286 006 16 46717390 46717559 - 30 99 41 A T 46717530 1516 30 CAACTGTGCCTCCCACATCTCCATTCTTACCAGGCATCTCTTCATTTGGAATGACTGGACCTTCACAGCCTGTATGGCTTCATCCAAGAGCTTTTCCTGCTCATCCTGAGGGGACTGCTGTGTTGTAGGCTGAAAAATAATAAATTCCACTGATGTCTCAAGCACATTCT 46683477 46683647 46683617 46683618 46683618 upstr_intron -12 -0.268292682926829 AGAATGTGCTTGAGACATCAGTGGAATTTATTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG mutant 43 64 0.984900352526447 0.949631145924663 0.967265749225555 18 411 1 0.989069874982219 0.994534937491109 0.990032632156329 0.972305712515538 0.988807934871807 0.850761254592795 -0.00513227962988283 -0.0226745665908752 0.0111920651281932 0.138308620389424 0.981169172335934 0.919784594732301 -0.013903423110379 0.0747503427588086 0.0886537658691876 FALSE FALSE 0 1.046 . upstream_gene_variant MODIFIER VPS35 HGNC 13487 ENST00000563884 1 NA AAA A,T 8.24e-06 16:46683618 VPS35 HGNC Symbol protein_coding 33386 ENSG00000069329 ENSE00003647410 intron_variant 1.115137 0.2258 0.12773 0.099367 0.865118037761628 0.133977 0.993599132125856 TRUE 4.25431e-06 ENSE00001203286_007 ENSE00001203286 007 16 46717390 46717559 - 30 99 41 A G 46717533 1517 27 CAACTGTGCCTCCCACATCTCCATTCTTACCAGGCATCTCTTCATTTGGAATGACTGGACCTTCACAGCCTGTATGGCTTCATCCAAGAGCTTTTCCTGCTCATCCTGAGGGGACTGCTGTGTTGTAGGCTGAAAAATAAAAAGTTCCACTGATGTCTCAAGCACATTCT 46683477 46683647 46683620 46683621 46683621 upstr_intron -15 -0.341463414634146 AGAATGTGCTTGAGACATCAGTGGAACTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG mutant NA NA NA NA NA 76 707 1 0.897785318212684 0.948892659106342 0.990032632156329 0.972305712515538 0.988807934871807 0.850761254592795 NA NA 0.0111920651281932 0.0470240636198893 0.981169172335934 0.919784594732301 NA 0.0291080643740412 NA FALSE NA 0 -0.032 . upstream_gene_variant MODIFIER VPS35 HGNC 13487 ENST00000563884 1 NA AAT A,G 8.241e-06 16:46683621 VPS35 HGNC Symbol protein_coding 33386 ENSG00000069329 ENSE00003647410 intron_variant 1.260226 0.14158 0.04021 0.099367 0.732839494023725 0.133977 0.993599132125856 TRUE 2.15211e-05 ENSE00001203286_008 ENSE00001203286 008 16 46717390 46717559 - 30 99 41 C T 46717536 1518 24 CAACTGTGCCTCCCACATCTCCATTCTTACCAGGCATCTCTTCATTTGGAATGACTGGACCTTCACAGCCTGTATGGCTTCATCCAAGAGCTTTTCCTGCTCATCCTGAGGGGACTGCTGTGTTGTAGGCTGAAAAATAAAAAATTTCACTGATGTCTCAAGCACATTCT 46683477 46683647 46683623 46683624 46683624 upstr_intron -18 -0.414634146341463 AGAATGTGCTTGAGACATCAGTGAAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG mutant NA NA NA NA NA 2038 996 0.980088614500075 0.99984117990939 0.989964897204732 0.990032632156329 0.972305712515538 0.988807934871807 0.850761254592795 NA NA -0.00871932037173229 0.149079925316595 0.981169172335934 0.919784594732301 NA 0.0701803024724315 NA FALSE NA 0 -0.443 . upstream_gene_variant MODIFIER VPS35 HGNC 13487 ENST00000563884 1 NA TCC C,T 8.243e-06 16:46683624 VPS35 HGNC Symbol protein_coding 33386 ENSG00000069329 ENSE00003647410 intron_variant 1.257878 0.16867 0.05801 0.099367 0.652982738971888 0.133977 0.993599132125856 TRUE 8.7222e-06 ENSE00001203286_009 ENSE00001203286 009 16 46717390 46717559 - 30 99 41 C T 46717546 1519 14 CAACTGTGCCTCCCACATCTCCATTCTTACCAGGCATCTCTTCATTTGGAATGACTGGACCTTCACAGCCTGTATGGCTTCATCCAAGAGCTTTTCCTGCTCATCCTGAGGGGACTGCTGTGTTGTAGGCTGAAAAATAAAAAATTCCACTGATGTTTCAAGCACATTCT 46683477 46683647 46683633 46683634 46683634 upstr_intron -28 -0.658536585365854 AGAATGTGCTTGAAACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG mutant NA NA NA NA NA 619 1290 0.99076604165559 0.99282896178631 0.99179750172095 0.990032632156329 0.972305712515538 0.988807934871807 0.850761254592795 NA NA 0.00195810678378316 0.142067707193515 0.981169172335934 0.919784594732301 NA 0.0720129069886493 NA FALSE NA 0 -0.089 . upstream_gene_variant MODIFIER VPS35 HGNC 13487 ENST00000563884 rs554251440 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TCT C,T 0.0004369 16:46683634 VPS35 HGNC Symbol protein_coding 33386 ENSG00000069329 ENSE00003647410 intron_variant 0.27156 0.18391 0.03888 0.099367 0.547878528180557 0.0478987 0.993599132125856 TRUE 0.000521376 ENSE00001203286_BRK ENSE00001203286 BRK 16 46717390 46717559 - 30 99 41 A,G; T,T NA NA NA CAACTGTGCCTCCCACATCTCCATTCTTGGCAGGCATCTCTTCATTTGGAATGACTGGACCTTCACAGCCTGTATGGCTTCATCCAAGAGCTTTTCCTGCTCATCCTGAGGGGACTGCTGTGTTGTAGGAAGAAAAATAAAAAATTCCACTGATGTCTCAAGCACATTCT 46683477 46683647 NA NA NA NA NA NA AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCTTCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGCCAAGAATGGAGATGTGGGAGGCACAGTTG AGAATGTGCTTGAGACATCAGTGGAATTTTTTATTTTTCAGCCTACAACACAGCAGTCCCCTCAGGATGAGCAGGAAAAGCTCTTGGATGAAGCCATACAGGCTGTGAAGGTCCAGTCATTCCAAATGAAGAGATGCCTGGTAAGAATGGAGATGTGGGAGGCACAGTTG control 168 320 0 0 0 460 114 0.00171922525865705 0.160609603417529 0.081164414338093 0.990032632156329 0.972305712515538 0.988807934871807 0.850761254592795 -0.990032632156329 -0.972305712515538 -0.98708870961315 -0.690151651175266 0.981169172335934 0.919784594732301 -0.981169172335934 -0.838620180394208 0.142548991941726 TRUE TRUE NA NA NA NA NA VPS35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35 NA NA NA ENSG00000069329 ENSE00003647410 NA NA NA NA NA NA NA 0.993599132125856 TRUE NA ENSE00001204273_000 ENSE00001204273 000 3 73657713 73657882 - 36 87 47 NA NA NA NA NA TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 NA NA NA NA NA NA TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT natural 62 47 0.988079875659403 0.982046795103526 0.985063335381465 2905 1246 0.994213133525626 0.882707980628419 0.938460557077023 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 0 0 0 0 0.985063335381465 0.938460557077023 0 0 0 FALSE FALSE NA NA NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZRN3 NA NA NA ENSG00000121440 ENSE00001204273 NA NA NA NA NA NA NA 0.908376144076894 TRUE NA ENSE00001204273_001 ENSE00001204273 001 3 73657713 73657882 - 36 87 47 T C 73657731 2144 152 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAGTGTGTTTTTCCTTTTCCT 73608561 73608731 73608579 73608580 73608580 downstr_intron 18 1.51428571428571 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAGTGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 59 678 1 0.966886546026265 0.983443273013132 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00578686647437376 0.0841785653978455 0.985063335381465 0.938460557077023 NA 0.0449827159361096 NA FALSE NA 0.986 0.357 . intron_variant MODIFIER PDZRN3 HGNC 17704 ENST00000263666 2/9 1 NA ATT T,C 8.238e-06 3:73608580 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 intron_variant 1.811361 0.96973 0.86558 0.053691 0.775092912539941 0.196718 0.908376144076894 TRUE NA ENSE00001204273_005 ENSE00001204273 005 3 73657713 73657882 - 36 87 47 G A 73657756 2148 127 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCTGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608604 73608605 73608605 exon -8 0.919540229885057 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCTGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 155 865 1 0.998040359920631 0.999020179960315 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00578686647437376 0.115332379292212 0.985063335381465 0.938460557077023 NA 0.0605596228832927 NA FALSE NA 1 8.132 rs144715916 missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 rs144715916 1 deleterious(0) benign(0.053) NA A:0.0002 A:0 CGG G,A 4.942e-05 3:73608605 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 5.360247 0.99384 0.98268 0.706298 0.997419164462198 0 0.908376144076894 TRUE 3.67695e-05 ENSE00001204273_006 ENSE00001204273 006 3 73657713 73657882 - 36 87 47 G T 73657757 2149 126 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGACGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608605 73608606 73608606 exon -9 0.908045977011494 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGACGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 686 123 0.997533591921256 1 0.998766795960628 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00332045839562989 0.117292019371581 0.985063335381465 0.938460557077023 NA 0.0603062388836053 NA FALSE NA 1 6.41 . missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 1 deleterious(0.01) possibly_damaging(0.507) NA GGC G,T 1.647e-05 3:73608606 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 5.514974 0.99008 0.97341 0.706298 0.997290353682892 0 0.908376144076894 TRUE 2.4511e-05 ENSE00001204273_007 ENSE00001204273 007 3 73657713 73657882 - 36 87 47 C T 73657759 2150 124 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCAGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608607 73608608 73608608 exon -11 0.885057471264368 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCAGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 1629 2496 0.983016024355837 0.835877434628496 0.909446729492166 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA -0.0111971091697894 -0.0468305459999235 0.985063335381465 0.938460557077023 NA -0.0290138275848565 NA FALSE NA 1 6.445 NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:73608608 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 8.098242 0.99369 0.97108 0.706298 0.999401350112774 0 0.908376144076894 TRUE 0.000122519 ENSE00001204273_009 ENSE00001204273 009 3 73657713 73657882 - 36 87 47 G A 73657760 2152 123 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCTGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608608 73608609 73608609 exon -12 0.873563218390805 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCTGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 92 513 1 0.997283827857719 0.998641913928859 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00578686647437376 0.1145758472293 0.985063335381465 0.938460557077023 NA 0.0601813568518367 NA FALSE NA 1 5.605 . missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 rs373980887 1 deleterious_low_confidence(0) probably_damaging(0.998) NA A:0 A:0.0001 CGG G,A 5.766e-05 3:73608609 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 8.012017 0.98851 0.93556 0.706298 0.99928854249497 0 0.908376144076894 TRUE 5.31167e-05 ENSE00001204273_010 ENSE00001204273 010 3 73657713 73657882 - 36 87 47 A T 73657770 2153 113 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATAATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608618 73608619 73608619 exon -22 0.758620689655172 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATAATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 855 310 0.99756301794555 0.993309126837329 0.99543607239144 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00334988441992401 0.11060114620891 0.985063335381465 0.938460557077023 NA 0.0569755153144169 NA FALSE NA 1 0.835 rs145587478 synonymous_variant LOW PDZRN3 HGNC 17704 ENST00000263666 2/10 rs145587478 1 NA T:0 T:0.0001 TAA A,T 1.647e-05 3:73608619 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 synonymous_variant -0.192439 0.95611 0.73639 0.706298 0.790895117505107 0 0.908376144076894 TRUE 8.15415e-06 ENSE00001204273_011 ENSE00001204273 011 3 73657713 73657882 - 36 87 47 A G 73657773 2154 110 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAACATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608621 73608622 73608622 exon -25 0.724137931034483 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAACATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 331 810 0.978483146841967 0.997707132992622 0.988095139917294 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA -0.0157299866836597 0.114999152364203 0.985063335381465 0.938460557077023 NA 0.0496345828402715 NA FALSE NA 1 1.615 rs143606237 synonymous_variant LOW PDZRN3 HGNC 17704 ENST00000263666 2/10 rs143606237 1 NA G:0 G:0.0001 TAT A,G 9.061e-05 3:73608622 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 synonymous_variant 0.194768 0.97373 0.69187 0.706298 0.600258262691287 0 0.908376144076894 TRUE 0.000126385 ENSE00001204273_013 ENSE00001204273 013 3 73657713 73657882 - 36 87 47 G C 73657776 2156 107 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTGAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608624 73608625 73608625 exon -28 0.689655172413793 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTGAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 175 427 0.995444419772497 0.998470316911651 0.996957368342074 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.0012312862468703 0.115762336283232 0.985063335381465 0.938460557077023 NA 0.0584968112650512 NA FALSE NA 1 4.992 . missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 1 deleterious(0.01) probably_damaging(0.92) NA TGA G,C 8.237e-06 3:73608625 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 6.442842 0.98519 0.92891 0.706298 0.998916737071983 0 0.908376144076894 TRUE 4.0784e-06 ENSE00001204273_015 ENSE00001204273 015 3 73657713 73657882 - 36 87 47 G A 73657784 2158 99 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCTTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608632 73608633 73608633 exon -36 0.597701149425287 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCTTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 558 641 0.846475479236076 0.846901580978733 0.846688530107405 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA -0.14773765428955 -0.0358063996496861 0.985063335381465 0.938460557077023 NA -0.0917720269696181 NA FALSE NA 1 5.218 . synonymous_variant LOW PDZRN3 HGNC 17704 ENST00000263666 2/10 rs537733555 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGG G,A 8.237e-06 3:73608633 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 synonymous_variant 1.172872 0.9858 0.94515 0.706298 0.802800301786031 0 0.908376144076894 TRUE 4.0793e-06 ENSE00001204273_016 ENSE00001204273 016 3 73657713 73657882 - 36 87 47 A T 73657787 2159 96 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCACCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608635 73608636 73608636 exon -39 0.563218390804598 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCACCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 437 834 0.791040528302804 0.902861219561273 0.846950873932038 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA -0.203172605222823 0.0201532389328536 0.985063335381465 0.938460557077023 NA -0.0915096831449845 NA FALSE NA 1 5.924 rs140816658 missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 rs140816658 1 tolerated(0.55) benign(0.206) T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 GAG A,T 2.471e-05 3:73608636 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 2.380388 0.9867 0.93767 0.706298 0.958361039778854 0 0.908376144076894 TRUE 2.44792e-05 ENSE00001204273_017 ENSE00001204273 017 3 73657713 73657882 - 36 87 47 C T 73657790 2160 93 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCAGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608638 73608639 73608639 exon -42 0.528735632183908 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCAGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 77 473 1 0.995825217139662 0.997912608569831 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00578686647437376 0.113117236511243 0.985063335381465 0.938460557077023 NA 0.0594520514928084 NA FALSE NA 1 6.445 rs111517063 missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 rs111517063 1 deleterious(0.02) possibly_damaging(0.746) NA CCG C,T 8.237e-06 3:73608639 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 7.45169 0.99369 0.97108 0.706298 0.998826001758438 0 0.908376144076894 TRUE 8.16587e-06 ENSE00001204273_018 ENSE00001204273 018 3 73657713 73657882 - 36 87 47 G A 73657791 2161 92 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCTGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608639 73608640 73608640 exon -43 0.517241379310345 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCTGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 455 304 0.998452173739482 0.993890621816665 0.996171397778074 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00423904021385602 0.111182641188246 0.985063335381465 0.938460557077023 NA 0.057710840701051 NA FALSE NA 0.994 0.425 rs141691065 synonymous_variant LOW PDZRN3 HGNC 17704 ENST00000263666 2/10 rs141691065 1 NA A:0.0002 A:0 CGG G,A 4.118e-05 3:73608640 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 synonymous_variant 1.471126 0.90453 0.33112 0.706298 0.87577030916316 0 0.908376144076894 TRUE 3.26773e-05 ENSE00001204273_019 ENSE00001204273 019 3 73657713 73657882 - 36 87 47 C T 73657798 2162 85 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCAGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608646 73608647 73608647 exon 38 0.436781609195402 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCAGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 1003 328 0.997450518387109 0.970102878874083 0.983776698630596 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.0032373848614824 0.0873948982456639 0.985063335381465 0.938460557077023 NA 0.0453161415535732 NA FALSE NA 1 6.445 . missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 rs200981678 1 deleterious(0) probably_damaging(0.984) NA T:0 T:0.0001 CCG C,T 2.471e-05 3:73608647 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 8.004056 0.99369 0.97108 0.615465 0.999604943587015 0 0.908376144076894 TRUE 3.67903e-05 ENSE00001204273_021 ENSE00001204273 021 3 73657713 73657882 - 36 87 47 C G 73657803 2164 80 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTCCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608651 73608652 73608652 exon 33 0.379310344827586 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTCCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 1648 159 0.998875051600468 0.969109451017393 0.983992251308931 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00466191807484173 0.0864014703889741 0.985063335381465 0.938460557077023 NA 0.0455316942319079 NA FALSE NA 0.609 -0.164 . synonymous_variant LOW PDZRN3 HGNC 17704 ENST00000263666 2/10 1 NA GCA C,G 8.237e-06 3:73608652 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 synonymous_variant 1.357613 0.97063 0.4388 0.615465 0.771015374817274 0 0.908376144076894 TRUE NA ENSE00001204273_022 ENSE00001204273 022 3 73657713 73657882 - 36 87 47 A T 73657810 2165 73 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCATGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608658 73608659 73608659 exon 26 0.298850574712644 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCATGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 506 139 0.999697019090461 1 0.999848509545231 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00548388556483492 0.117292019371581 0.985063335381465 0.938460557077023 NA 0.0613879524682078 NA FALSE NA 1 5.969 . missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 1 deleterious(0) probably_damaging(0.95) NA AAG A,T 8.237e-06 3:73608659 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 6.03462 0.98707 0.96247 0.615465 0.9848526182275 0 0.908376144076894 TRUE 4.09567e-06 ENSE00001204273_025 ENSE00001204273 025 3 73657713 73657882 - 36 87 47 T C 73657823 2168 60 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCGAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608671 73608672 73608672 exon 13 0.149425287356322 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCGAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 230 156 0.999820935074642 1 0.999910467537321 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00560780154901575 0.117292019371581 0.985063335381465 0.938460557077023 NA 0.0614499104602982 NA FALSE NA 1 6.625 . missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 1 deleterious(0.02) benign(0.066) NA TTG T,C 8.239e-06 3:73608672 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 3.005635 0.98677 0.95925 0.706298 0.998525484551741 0 0.908376144076894 TRUE 1.65638e-05 ENSE00001204273_027 ENSE00001204273 027 3 73657713 73657882 - 36 87 47 C T 73657832 2170 51 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCAAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608680 73608681 73608681 exon 4 0.0459770114942529 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCAAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 1691 921 0.996431141604691 0.998451378352555 0.997441259978623 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00221800807906503 0.115743397724136 0.985063335381465 0.938460557077023 NA 0.0589807029016006 NA FALSE NA 1 6.445 rs150437956 missense_variant MODERATE PDZRN3 HGNC 17704 ENST00000263666 2/10 rs150437956 1 tolerated(0.27) benign(0.26) T:0.0006 T:0 T:0.0014 NA T:0 T:0.002 T:0 T:0 T:0.001 TCG C,T 0.0005109 3:73608681 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 missense_variant 4.999907 0.99369 0.97108 0.706298 0.997903877834143 0 0.908376144076894 TRUE 0.000529123 ENSE00001204273_028 ENSE00001204273 028 3 73657713 73657882 - 36 87 47 G A 73657833 2171 50 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGTGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608681 73608682 73608682 exon 3 0.0344827586206897 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGTGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 787 1577 0.821684415888723 0.881719162055476 0.851701788972099 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA -0.172528717636904 -0.000988818572943639 0.985063335381465 0.938460557077023 NA -0.0867587681049237 NA FALSE NA 0.994 0.417 . splice_region_variant&synonymous_variant LOW PDZRN3 HGNC 17704 ENST00000263666 2/10 rs202197320 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 2.472e-05 3:73608682 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 splice_region_variant 1.798735 0.9599 0.34848 0.706298 0.825059973528456 0 0.908376144076894 TRUE 3.82088e-05 ENSE00001204273_029 ENSE00001204273 029 3 73657713 73657882 - 36 87 47 T G 73657837 2172 46 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCCGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608685 73608686 73608686 upstr_intron -2 -0.0212765957446809 TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCCGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 154 53 0.889230094491103 0.816414569369188 0.852822331930146 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA -0.104983039034523 -0.0662934112592317 0.985063335381465 0.938460557077023 NA -0.0856382251468772 NA FALSE NA 1 6.625 rs149396248 splice_acceptor_variant HIGH PDZRN3 HGNC 17704 ENST00000263666 1/9 1 NA HC CTG T,G 8.241e-06 3:73608686 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 splice_acceptor_variant 5.012498 0.99187 0.97373 0.053691 0.994930585917038 0.967704 0.908376144076894 TRUE NA ENSE00001204273_030 ENSE00001204273 030 3 73657713 73657882 - 36 87 47 C T 73657856 2173 27 TATTCCCTGTTGGTAAATAAAAGTTTAATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608704 73608705 73608705 upstr_intron -21 -0.425531914893617 TATTCCCTGTTGGTAAATAAAAGTTTAATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 753 1004 0.99728851463711 1 0.998644257318555 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00307538111148342 0.117292019371581 0.985063335381465 0.938460557077023 NA 0.0601837002415321 NA FALSE NA 0.96 0.859 rs138207112 intron_variant MODIFIER PDZRN3 HGNC 17704 ENST00000263666 1/9 rs138207112 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCA C,T 8.257e-06 3:73608705 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 intron_variant 0.535794 0.78987 0.65541 0.053691 0.789515795241405 0.0538336 0.908376144076894 TRUE 4.83863e-06 ENSE00001204273_031 ENSE00001204273 031 3 73657713 73657882 - 36 87 47 T C 73657866 2174 17 TATTCCCTGTTGGTAAGTAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608714 73608715 73608715 upstr_intron -31 -0.638297872340426 TATTCCCTGTTGGTAAGTAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 1710 481 0.916750594063962 0.993729510673325 0.955240052368644 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA -0.0774625394616643 0.111021530044906 0.985063335381465 0.938460557077023 NA 0.0167794952916209 NA FALSE NA 0.02 -0.353 . intron_variant MODIFIER PDZRN3 HGNC 17704 ENST00000263666 1/9 1 NA ATT T,C 8.284e-06 3:73608715 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 intron_variant 0.045754 0.24304 0.06745 0.053691 0.600110987727455 0.0538336 0.908376144076894 TRUE 1.58455e-05 ENSE00001204273_032 ENSE00001204273 032 3 73657713 73657882 - 36 87 47 T C 73657868 2175 15 TATTCCCTGTTGGTGAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 73608716 73608717 73608717 upstr_intron -33 -0.680851063829787 TATTCCCTGTTGGTGAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT mutant NA NA NA NA NA 268 959 1 0.998795246388619 0.99939762319431 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA 0.00578686647437376 0.1160872657602 0.985063335381465 0.938460557077023 NA 0.0609370661172869 NA FALSE NA 0.001 0.092 . intron_variant MODIFIER PDZRN3 HGNC 17704 ENST00000263666 1/9 1 NA TTA T,C 2.488e-05 3:73608717 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00001204273 intron_variant 0.191483 0.24105 0.10034 0.053691 0.583969615268109 0.0538336 0.908376144076894 TRUE 1.07652e-05 ENSE00001204273_BRK ENSE00001204273 BRK 3 73657713 73657882 - 36 87 47 A,G; T,T NA NA NA TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCTTGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGCCATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT 73608561 73608731 NA NA NA NA NA NA TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCTTGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGCCATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT TATTCCCTGTTGGTAAATAAAAGTTTGATCTCATTTGTTACCTGCAGGGCGAAGAAACCAAAAGTCTGACTCTTGTCCTGCATCGGGACTCCGGCTCCCTGGGATTCAATATTATTGGTGGCCGGCCGAGTGTGGTATGTTAATTACTAAAATGTGTTTTTCCTTTTCCT control NA NA NA NA NA 371 365 0.0509546797223018 0.072183110022991 0.0615688948726464 0.988079875659403 0.982046795103526 0.994213133525626 0.882707980628419 NA NA -0.943258453803324 -0.810524870605428 0.985063335381465 0.938460557077023 NA -0.876891662204376 NA TRUE NA NA NA NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZRN3 NA NA NA ENSG00000121440 ENSE00001204273 NA NA NA NA NA NA NA 0.908376144076894 TRUE NA ENSE00001204457_000 ENSE00001204457 000 16 56401318 56401487 - 38 84 48 NA NA NA NA NA TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 NA NA NA NA NA NA TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC natural 26 24 0.997793875691044 0.982180759396249 0.989987317543647 4213 3332 0.967894520314023 0.834312294698397 0.90110340750621 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 0 0 0 0 0.989987317543647 0.90110340750621 0 0 0 FALSE FALSE NA NA NA NA NA AMFR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AMFR NA NA NA ENSG00000159461 ENSE00003413886 NA NA NA NA NA NA NA 0.00142575921262617 FALSE NA ENSE00001204457_001 ENSE00001204457 001 16 56401318 56401487 - 38 84 48 C T 56401330 1710 158 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTAAGTTCATGGAGC 56367405 56367575 56367417 56367418 56367418 downstr_intron 26 1.7027027027027 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTAAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 168 2754 0.969106518370629 0.982116482159789 0.975611500265209 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.00121199805660654 0.147804187461392 0.989987317543647 0.90110340750621 NA 0.0745080927589994 NA FALSE NA 0 -0.307 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 3/3 rs367557874 1 NA T:0 T:0.0001 TCA C,T 2.471e-05 16:56367418 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 non_coding_transcript_exon_variant 0.377916 0.27533 0.12746 0.256867 0.827809253018974 0.0712038 0.00142575921262617 FALSE 1.62471e-05 ENSE00001204457_002 ENSE00001204457 002 16 56401318 56401487 - 38 84 48 C T 56401346 1711 142 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCACACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367433 56367434 56367434 downstr_intron 10 1.27027027027027 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCACACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 394 210 1 0.915425417236794 0.957712708618397 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0321054796859773 0.0811131225383978 0.989987317543647 0.90110340750621 NA 0.0566093011121875 NA FALSE NA 0 0.269 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 3/3 rs201593756 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCG C,T 2.471e-05 16:56367434 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 non_coding_transcript_exon_variant 0.37742 0.32387 0.20102 0.256867 0.52034585968046 0.0549589 0.00142575921262617 FALSE 1.62448e-05 ENSE00001204457_003 ENSE00001204457 003 16 56401318 56401487 - 38 84 48 G A 56401347 1712 141 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCTGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367434 56367435 56367435 downstr_intron 9 1.24324324324324 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCTGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 895 494 0.999828740176324 0.98928545360701 0.994557096891667 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0319342198623012 0.154973158908613 0.989987317543647 0.90110340750621 NA 0.0934536893854571 NA FALSE NA 0 -1.151 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 3/3 rs370482924 1 NA A:0.0007 A:0 CGG G,A 7.413e-05 16:56367435 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 non_coding_transcript_exon_variant 0.11231 0.22469 0.00888 0.256867 0.518324873270504 0.0549589 0.00142575921262617 FALSE 8.93408e-05 ENSE00001204457_004 ENSE00001204457 004 16 56401318 56401487 - 38 84 48 T C 56401352 1713 136 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAGAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367439 56367440 56367440 downstr_intron 4 1.10810810810811 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAGAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 1064 210 0.942172884525792 0.931509073599265 0.936840979062529 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA -0.0257216357882306 0.0971967789008684 0.989987317543647 0.90110340750621 NA 0.0357375715563189 NA FALSE NA 0.961 1.802 rs77132693 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 3/3 rs77132693&COSM32771 1 C:0.0593 C:0.0189 C:0.0432 NA C:0.1389 C:0.0258 C:0.0777 C:0.0357 C:0.0379 TTT T,C 0.049 16:56367440 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 splice_region_variant 0.417621 0.73616 0.80691 0.256867 0.613049443590052 0.164281 0.00142575921262617 FALSE 0.0491488 ENSE00001204457_006 ENSE00001204457 006 16 56401318 56401487 - 38 84 48 T C 56401391 1715 97 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAGGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367478 56367479 56367479 exon -36 0.583333333333333 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAGGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 863 330 0.99783413554536 0.994141369542142 0.995987752543751 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0299396152313376 0.159829074843746 0.989987317543647 0.90110340750621 NA 0.0948843450375417 NA FALSE NA 0.001 1.155 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 3/3 1 NA CTT T,C 1.647e-05 16:56367479 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 missense_variant -0.620243 0.31572 0.24309 0.706298 0.972960174655385 0 0.00142575921262617 FALSE 1.21829e-05 ENSE00001204457_008 ENSE00001204457 008 16 56401318 56401487 - 38 84 48 A G 56401402 1717 86 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGCGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367489 56367490 56367490 exon 38 0.452380952380952 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGCGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 762 405 0.982993852443284 0.995125955839332 0.989059904141308 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0150993321292616 0.160813661140935 0.989987317543647 0.90110340750621 NA 0.0879564966350985 NA FALSE NA 0.421 1.568 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 3/3 1 NA CAC A,G 8.236e-06 16:56367490 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 missense_variant 0.030834 0.42032 0.40838 0.706298 0.694386125392087 0 0.00142575921262617 FALSE 4.06121e-06 ENSE00001204457_009 ENSE00001204457 009 16 56401318 56401487 - 38 84 48 T C 56401416 1718 72 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCGTTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367503 56367504 56367504 exon 24 0.285714285714286 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCGTTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 887 148 1 0.997915975469603 0.998957987734801 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0321054796859773 0.163603680771206 0.989987317543647 0.90110340750621 NA 0.0978545802285917 NA FALSE NA 0 -1.466 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:56367504 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 synonymous_variant 0.160697 0.43525 0.13921 0.706298 0.463403331251111 0 0.00142575921262617 FALSE 1.62476e-05 ENSE00001204457_010 ENSE00001204457 010 16 56401318 56401487 - 38 84 48 T A 56401416 1719 72 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCTTTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367503 56367504 56367504 exon 24 0.285714285714286 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCTTTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 263 263 0.950391825108435 0.999398184397101 0.974895004752768 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA -0.0175026952055879 0.165085889698704 0.989987317543647 0.90110340750621 NA 0.0737915972465581 NA FALSE NA 0 -1.466 NA NA NA AMFR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AMFR NA NA NA ENSG00000159461 ENSE00003413886 synonymous_variant 1.108842 0.43134 0.12971 0.706298 0.461513262420778 0 0.00142575921262617 FALSE NA ENSE00001204457_011 ENSE00001204457 011 16 56401318 56401487 - 38 84 48 C T 56401438 1720 50 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCAGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367525 56367526 56367526 exon 2 0.0238095238095238 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCAGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 491 690 0.999687758644736 0.999944826335862 0.999816292490299 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0317932383307132 0.165632531637465 0.989987317543647 0.90110340750621 NA 0.0987128849840892 NA FALSE NA 1 3.487 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW AMFR HGNC 463 ENST00000566334 3/3 COSM3988529&COSM4061332 1 NA CCG C,T 4.942e-05 16:56367526 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 missense_variant 3.289025 0.96381 0.91604 0.706298 0.996723480589736 0 0.00142575921262617 FALSE 5.69666e-05 ENSE00001204457_012 ENSE00001204457 012 16 56401318 56401487 - 38 84 48 G A 56401439 1721 49 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGTGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367526 56367527 56367527 exon 1 0.0119047619047619 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGTGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 534 252 0.998158710134552 1 0.999079355067276 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0302641898205291 0.165687705301603 0.989987317543647 0.90110340750621 NA 0.0979759475610663 NA FALSE NA 1 3.634 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW AMFR HGNC 463 ENST00000566334 3/3 rs202074356 1 NA CGC G,A 5.765e-05 16:56367527 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 missense_variant 6.98503 0.96456 0.92421 0.706298 0.999040966813329 0 0.00142575921262617 FALSE 8.95612e-05 ENSE00001204457_013 ENSE00001204457 013 16 56401318 56401487 - 38 84 48 G A 56401443 1722 45 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTTCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367530 56367531 56367531 upstr_intron -4 -0.0625 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTTCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 291 640 0.996846575863321 1 0.998423287931661 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0289520555492987 0.165687705301603 0.989987317543647 0.90110340750621 NA 0.097319880425451 NA FALSE NA 0.997 0.66 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW AMFR HGNC 463 ENST00000566334 2/2 1 NA GGA G,A 8.236e-06 16:56367531 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 splice_region_variant 0.440427 0.62454 0.22025 0.156188 0.394963504305257 0.379014 0.00142575921262617 FALSE 4.0715e-06 ENSE00001204457_014 ENSE00001204457 014 16 56401318 56401487 - 38 84 48 G A 56401448 1723 40 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTTTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367535 56367536 56367536 upstr_intron -9 -0.166666666666667 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTTTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 366 539 0.99864284003018 0.999706469392653 0.999174654711416 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.030748319716157 0.165394174694256 0.989987317543647 0.90110340750621 NA 0.0980712472052065 NA FALSE NA 0.735 0.054 . intron_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 2/2 rs530343295 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGA G,A 8.236e-06 16:56367536 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 non_coding_transcript_exon_variant -0.216698 0.31692 0.40824 0.099367 0.430677841649573 0.229715 0.00142575921262617 FALSE 4.07558e-06 ENSE00001204457_015 ENSE00001204457 015 16 56401318 56401487 - 38 84 48 C A 56401452 1724 36 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTTTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367539 56367540 56367540 upstr_intron -13 -0.25 TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTTTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 483 572 0.999682584440521 0.999723410047794 0.999702997244158 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0317880641264985 0.165411115349397 0.989987317543647 0.90110340750621 NA 0.098599589737948 NA FALSE NA 0 -0.549 . intron_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 2/2 1 NA ACA C,A 8.236e-06 16:56367540 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 non_coding_transcript_exon_variant 0.016559 0.27108 0.13947 0.099367 0.439624981976735 0.158061 0.00142575921262617 FALSE 4.07864e-06 ENSE00001204457_016 ENSE00001204457 016 16 56401318 56401487 - 38 84 48 A G 56401460 1725 28 TGATTTCTGTGTGACTCTGGACTGTTTCTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367547 56367548 56367548 upstr_intron -21 -0.416666666666667 TGATTTCTGTGTGACTCTGGACTGTTTCTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 568 563 0.997436195981395 0.999718986894899 0.998577591438147 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0295416756673728 0.165406692196503 0.989987317543647 0.90110340750621 NA 0.0974741839319377 NA FALSE NA 0 -0.637 . intron_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 2/2 rs200831992 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAA A,G 9.884e-05 16:56367548 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 non_coding_transcript_exon_variant 0.115882 0.29666 0.02703 0.099367 0.673107771282608 0.0476798 0.00142575921262617 FALSE 9.4068e-05 ENSE00001204457_017 ENSE00001204457 017 16 56401318 56401487 - 38 84 48 A C 56401472 1726 16 TGATTTCTGTGTGACGCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367559 56367560 56367560 upstr_intron -33 -0.666666666666667 TGATTTCTGTGTGACGCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 410 640 1 1 1 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0321054796859773 0.165687705301603 0.989987317543647 0.90110340750621 NA 0.0988965924937903 NA FALSE NA 0.008 1.677 . intron_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 2/2 1 NA GAG A,C 8.236e-06 16:56367560 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 non_coding_transcript_exon_variant -0.186236 0.31349 0.32547 0.069865 0.684854692885975 0.0625615 0.00142575921262617 FALSE 4.1115e-06 ENSE00001204457_018 ENSE00001204457 018 16 56401318 56401487 - 38 84 48 A G 56401476 1727 12 TGATTTCTGTGCGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC 56367405 56367575 56367563 56367564 56367564 upstr_intron -37 -0.75 TGATTTCTGTGCGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC TGATTTCTGTGTGACTCTGGACTGTTTTTGGTACTGTTTCTCTTCCAGCGGTCAGATAGCATCAGACCTGCATTGAACAGTCCTGTGGAAAGGCCAAGCAGTGACCAGGAAGAGGGAGAAACTTCTGCTCAGGTAAAACCCGCACTCTAGTGAGAGTGAGTTCATGGAGC mutant NA NA NA NA NA 239 128 1 1 1 0.997793875691044 0.982180759396249 0.967894520314023 0.834312294698397 NA NA 0.0321054796859773 0.165687705301603 0.989987317543647 0.90110340750621 NA 0.0988965924937903 NA FALSE NA 0 0.216 . intron_variant&non_coding_transcript_variant MODIFIER AMFR HGNC 463 ENST00000566334 2/2 1 NA CAC A,G 4.942e-05 16:56367564 AMFR HGNC Symbol protein_coding 64086 ENSG00000159461 ENSE00003413886 non_coding_transcript_exon_variant 0.398346 0.25138 0.05549 0.069865 0.593652792746198 0.0625615 0.00142575921262617 FALSE 3.29367e-05 ENSE00001204604_000 ENSE00001204604 000 3 167742269 167742438 - 45 69 56 NA NA NA NA NA GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 NA NA NA NA NA NA TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC natural NA NA NA NA NA 1019 493 0.98385318298411 0.985528873942958 0.984691028463534 NA NA 0.98385318298411 0.985528873942958 NA NA 0 0 NA 0.984691028463534 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GOLIM4 NA NA NA ENSG00000173905 ENSE00001204604 NA NA NA NA NA NA NA 5.53788033369551e-11 FALSE NA ENSE00001204604_001 ENSE00001204604 001 3 167742269 167742438 - 45 69 56 G C 167742284 3529 155 GTGACAGACCAATCTCATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024495 168024496 168024496 downstr_intron 30 1.68181818181818 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATGAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 44 166 0.989235534843358 1 0.994617767421679 NA NA 0.98385318298411 0.985528873942958 NA NA 0.00538235185924785 0.0144711260570417 NA 0.984691028463534 NA 0.00992673895814478 NA FALSE NA 0 -0.071 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:168024496 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 intron_variant -0.045459 0.18522 0.07604 0.156188 0.691892812316699 0.0971525 5.53788033369551e-11 FALSE 4.06921e-06 ENSE00001204604_002 ENSE00001204604 002 3 167742269 167742438 - 45 69 56 G A 167742284 3530 155 GTGACAGACCAATCTAATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024495 168024496 168024496 downstr_intron 30 1.68181818181818 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATTAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 177 1768 0.988516466863333 0.997283148245521 0.992899807554427 NA NA 0.98385318298411 0.985528873942958 NA NA 0.00466328387922332 0.0117542743025628 NA 0.984691028463534 NA 0.00820877909089307 NA FALSE NA 0 -0.071 NA NA NA GOLIM4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GOLIM4 NA NA NA ENSG00000173905 ENSE00001204604 intron_variant 0.162882 0.18383 0.04247 0.156188 0.493832633327844 0.0971525 5.53788033369551e-11 FALSE 2.0346e-05 ENSE00001204604_003 ENSE00001204604 003 3 167742269 167742438 - 45 69 56 C T 167742293 3531 146 GTGACAGACCAATCTGATCAGTCTTTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024504 168024505 168024505 downstr_intron 21 1.47727272727273 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAAAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 165 199 1 1 1 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 0.0144711260570417 NA 0.984691028463534 NA 0.0153089715364658 NA FALSE NA 0 0.231 . intron_variant MODIFIER GOLIM4 HGNC 15448 ENST00000470487 14/15 rs368453798 1 NA T:0 T:0.0003 TCT C,T 0.0003377 3:168024505 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 intron_variant 0.331133 0.27303 0.18907 0.156188 0.424687239882207 0.0964629 5.53788033369551e-11 FALSE 0.000410673 ENSE00001204604_004 ENSE00001204604 004 3 167742269 167742438 - 45 69 56 T C 167742294 3532 145 GTGACAGACCAATCTGATCAGTCTCCGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024505 168024506 168024506 downstr_intron 20 1.45454545454545 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCGGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 760 960 0.912615496540923 1 0.956307748270462 NA NA 0.98385318298411 0.985528873942958 NA NA -0.0712376864431871 0.0144711260570417 NA 0.984691028463534 NA -0.0283832801930727 NA FALSE NA 0 -0.838 . intron_variant MODIFIER GOLIM4 HGNC 15448 ENST00000470487 14/15 rs371747048 1 NA C:0.0002 C:0 CTG T,C 8.236e-06 3:168024506 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 intron_variant -0.06528 0.24502 0.02104 0.156188 0.607617845762761 0.0964629 5.53788033369551e-11 FALSE 4.0657e-06 ENSE00001204604_009 ENSE00001204604 009 3 167742269 167742438 - 45 69 56 C T 167742346 3537 93 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATTAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024557 168024558 168024558 exon -33 0.536231884057971 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTAATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 278 171 0.99444110653619 0.94118710503784 0.967814105787015 NA NA 0.98385318298411 0.985528873942958 NA NA 0.01058792355208 -0.0443417689051179 NA 0.984691028463534 NA -0.0168769226765189 NA FALSE NA 1 6.448 rs145555095 missense_variant MODERATE GOLIM4 HGNC 15448 ENST00000470487 14/16 rs145555095 1 deleterious(0) probably_damaging(1) NA T:0 T:0.0002 TCA C,T 9.06e-05 3:168024558 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 missense_variant 6.17383 0.9712 0.96931 0.730579 0.998988301904824 0 5.53788033369551e-11 FALSE 7.71831e-05 ENSE00001204604_012 ENSE00001204604 012 3 167742269 167742438 - 45 69 56 C T 167742359 3540 80 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCTTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024570 168024571 168024571 exon 24 0.347826086956522 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAAGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 98 28 1 1 1 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 0.0144711260570417 NA 0.984691028463534 NA 0.0153089715364658 NA FALSE NA 1 1.598 . synonymous_variant LOW GOLIM4 HGNC 15448 ENST00000470487 14/16 1 NA CCT C,T 8.236e-06 3:168024571 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 synonymous_variant 1.865434 0.93868 0.86513 0.730579 0.703178373045952 0 5.53788033369551e-11 FALSE 1.21866e-05 ENSE00001204604_014 ENSE00001204604 014 3 167742269 167742438 - 45 69 56 T G 167742373 3542 66 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATGTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024584 168024585 168024585 exon 10 0.144927536231884 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGACATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 181 67 0.981725318685522 1 0.990862659342761 NA NA 0.98385318298411 0.985528873942958 NA NA -0.0021278642985878 0.0144711260570417 NA 0.984691028463534 NA 0.00617163087922695 NA FALSE NA 1 6.628 . missense_variant MODERATE GOLIM4 HGNC 15448 ENST00000470487 14/16 1 deleterious(0) probably_damaging(1) NA TTT T,G 8.236e-06 3:168024585 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 missense_variant 6.137274 0.97295 0.97622 0.730579 0.995633159299583 0 5.53788033369551e-11 FALSE 8.12506e-06 ENSE00001204604_015 ENSE00001204604 015 3 167742269 167742438 - 45 69 56 C T 167742375 3543 64 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTTCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024586 168024587 168024587 exon 8 0.115942028985507 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGAAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 67 47 1 1 1 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 0.0144711260570417 NA 0.984691028463534 NA 0.0153089715364658 NA FALSE NA 1 6.448 . missense_variant MODERATE GOLIM4 HGNC 15448 ENST00000470487 14/16 1 deleterious(0) probably_damaging(1) NA TCC C,T 8.236e-06 3:168024587 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 missense_variant 7.127314 0.97674 0.97437 0.730579 0.997773615637005 0 5.53788033369551e-11 FALSE 4.06293e-06 ENSE00001204604_016 ENSE00001204604 016 3 167742269 167742438 - 45 69 56 T C 167742377 3544 62 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCCGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024588 168024589 168024589 exon 6 0.0869565217391304 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCGGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 36 218 1 0.95299442883016 0.97649721441508 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 -0.0325344451127982 NA 0.984691028463534 NA -0.00819381404845421 NA FALSE NA 0.997 0.256 rs181135258 synonymous_variant LOW GOLIM4 HGNC 15448 ENST00000470487 14/16 rs181135258 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTG T,C 0.0001483 3:168024589 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 synonymous_variant 0.622171 0.92296 0.81968 0.730579 0.812488936593125 0 5.53788033369551e-11 FALSE 0.000178775 ENSE00001204604_017 ENSE00001204604 017 3 167742269 167742438 - 45 69 56 C T 167742379 3545 60 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGTCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024590 168024591 168024591 exon 4 0.0579710144927536 TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGACAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 105 128 1 0.988713922584049 0.994356961292024 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 0.00318504864109026 NA 0.984691028463534 NA 0.00966593282849004 NA FALSE NA 1 6.448 . missense_variant MODERATE GOLIM4 HGNC 15448 ENST00000470487 14/16 1 deleterious(0) probably_damaging(0.967) NA GCC C,T 8.236e-06 3:168024591 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 missense_variant 7.226078 0.97674 0.97437 0.730579 0.998924960455829 0 5.53788033369551e-11 FALSE 4.06359e-06 ENSE00001204604_019 ENSE00001204604 019 3 167742269 167742438 - 45 69 56 A G 167742408 3547 31 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCGTGTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024619 168024620 168024620 upstr_intron -26 -0.446428571428571 TGTAAAAGGCATCTCTGATGTACAGTAACACGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 24 13 1 1 1 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 0.0144711260570417 NA 0.984691028463534 NA 0.0153089715364658 NA FALSE NA 0.006 0.167 . intron_variant MODIFIER GOLIM4 HGNC 15448 ENST00000470487 13/15 1 NA CAT A,G 8.237e-06 3:168024620 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 intron_variant 0.186912 0.28122 0.19385 0.101703 0.698482936680485 0.18573 5.53788033369551e-11 FALSE 4.06832e-06 ENSE00001204604_021 ENSE00001204604 021 3 167742269 167742438 - 45 69 56 G T 167742410 3549 29 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATTTTACTGTACATCAGAGATGCCTTTTACA 168024480 168024650 168024621 168024622 168024622 upstr_intron -28 -0.482142857142857 TGTAAAAGGCATCTCTGATGTACAGTAAAATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 78 19 1 1 1 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 0.0144711260570417 NA 0.984691028463534 NA 0.0153089715364658 NA FALSE NA 0.662 2.447 . intron_variant MODIFIER GOLIM4 HGNC 15448 ENST00000470487 13/15 1 NA TGT G,T 8.237e-06 3:168024622 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 intron_variant 0.113686 0.32744 0.54637 0.101703 0.594009329389557 0.256455 5.53788033369551e-11 FALSE 4.06924e-06 ENSE00001204604_023 ENSE00001204604 023 3 167742269 167742438 - 45 69 56 A T 167742418 3551 21 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTTCATCAGAGATGCCTTTTACA 168024480 168024650 168024629 168024630 168024630 upstr_intron -36 -0.625 TGTAAAAGGCATCTCTGATGAACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 427 10 1 1 1 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 0.0144711260570417 NA 0.984691028463534 NA 0.0153089715364658 NA FALSE NA 0 -0.66 . intron_variant MODIFIER GOLIM4 HGNC 15448 ENST00000470487 13/15 rs375701240 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TAC A,T 1.647e-05 3:168024630 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 intron_variant 0.144537 0.27023 0.16864 0.101703 0.669096388482496 0.186577 5.53788033369551e-11 FALSE 8.15129e-06 ENSE00001204604_024 ENSE00001204604 024 3 167742269 167742438 - 45 69 56 G A 167742426 3552 13 GTGACAGACCAATCTGATCAGTCTCTGGGATTCAATCCTTACTACCTCCTCTTCTGCCTCTTCCTGGTACTGTTCATCAACATTGTCCTCCTGCTGGTCTGGATTTCCTGCCATCTGTTGGAAACAAAAGGGCAGGTTCATGTTACTGTACATCAGAAATGCCTTTTACA 168024480 168024650 168024637 168024638 168024638 upstr_intron -44 -0.767857142857143 TGTAAAAGGCATTTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC TGTAAAAGGCATCTCTGATGTACAGTAACATGAACCTGCCCTTTTGTTTCCAACAGATGGCAGGAAATCCAGACCAGCAGGAGGACAATGTTGATGAACAGTACCAGGAAGAGGCAGAAGAGGAGGTAGTAAGGATTGAATCCCAGAGACTGATCAGATTGGTCTGTCAC mutant NA NA NA NA NA 103 1398 1 0.99994553696923 0.999972768484615 NA NA 0.98385318298411 0.985528873942958 NA NA 0.0161468170158898 0.0144166630262714 NA 0.984691028463534 NA 0.0152817400210806 NA FALSE NA 0.048 1.93 . intron_variant MODIFIER GOLIM4 HGNC 15448 ENST00000470487 13/15 1 NA AGA G,A 8.237e-06 3:168024638 GOLIM4 HGNC Symbol protein_coding 87298 ENSG00000173905 ENSE00001204604 intron_variant 0.299362 0.3555 0.40021 0.101703 0.573171222021416 0.186362 5.53788033369551e-11 FALSE 4.09189e-06 ENSE00001205806_000 ENSE00001205806 000 11 120307964 120308133 + 53 75 42 NA NA NA NA NA AAGCCAAAGACAGCACTATCATTGCATGGATTTCATACTCACAGTGTCCTGAATTGTTTCACTTTTCTCTGGGTTTTCCTCTAGATAAATTCTCTCTTTTGGGCCACTCTTGGGACTCTAATGAAAAAAACAAGATCTTCAGTTCATTTCAATAGGCACACCAAAAGGAG 120437254 120437424 NA NA NA NA NA NA CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT natural 18 24 0.999524721856332 1 0.999762360928166 3519 1022 0.979788841641012 0.991289194322452 0.985539017981732 0.999524721856332 1 0.979788841641012 0.991289194322452 0 0 0 0 0.999762360928166 0.985539017981732 0 0 0 FALSE FALSE NA NA NA NA NA ARHGEF12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF12 NA NA NA ENSG00000196914 ENSE00003484204 NA NA NA NA NA NA NA 0.99999892582633 TRUE NA ENSE00001205806_012 ENSE00001205806 012 11 120307964 120308133 + 53 75 42 A C 120308075 2872 112 AAGCCAAAGACAGCACTATCATTGCATGGATTTCATACTCACAGTGTCCTGAATTGTTGCACTTTTCTCTGGGTTTTCCTCTAGATAAATTCTCTCTTTTGGGCCACTCTTGGGACTCTAATGAAAAAAACAAGATCTTCAGTTCATTTCAATAGGCACACCAAAAGGAG 120437254 120437424 120437365 120437366 120437366 exon -17 0.786666666666667 CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGCAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT mutant NA NA NA NA NA 354 43 0.996579103781491 0.931960907158498 0.964270005469995 0.999524721856332 1 0.979788841641012 0.991289194322452 NA NA 0.0167902621404794 -0.0593282871639532 0.999762360928166 0.985539017981732 NA -0.0212690125117369 NA FALSE NA 1 5.996 . missense_variant MODERATE ARHGEF12 HGNC 14193 ENST00000532993 12/41 1 tolerated(0.05) benign(0.004) NA GAA A,C 8.278e-06 11:120437366 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003484204 missense_variant 2.878883 0.98563 0.97498 0.732398 0.995634254826218 0 0.99999892582633 TRUE 4.07236e-06 ENSE00001205806_015 ENSE00001205806 015 11 120307964 120308133 + 53 75 42 T G 120308099 2875 136 AAGCCAAAGACAGCACTATCATTGCATGGATTTCCTACTCACAGTGTCCTGAATTGTTTCACTTTTCTCTGGGTTTTCCTCTAGATAAATTCTCTCTTTTGGGCCACTCTTGGGACTCTAATGAAAAAAACAAGATCTTCAGTTCATTTCAATAGGCACACCAAAAGGAG 120437254 120437424 120437389 120437390 120437390 downstr_intron 8 1.19512195121951 CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTAGGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT mutant NA NA NA NA NA 110 148 0.00446709136698473 0.0910631731290572 0.047765132248021 0.999524721856332 1 0.979788841641012 0.991289194322452 NA NA -0.975321750274027 -0.900226021193394 0.999762360928166 0.985539017981732 NA -0.937773885733711 NA TRUE NA 0.568 0.867 . splice_region_variant&intron_variant LOW ARHGEF12 HGNC 14193 ENST00000532993 12/40 1 NA ATG T,G 1.656e-05 11:120437390 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003484204 splice_region_variant 1.43609 0.79928 0.5531 0.106106 0.797531581685487 0.434434 0.99999892582633 TRUE 1.23025e-05 ENSE00001205806_016 ENSE00001205806 016 11 120307964 120308133 + 53 75 42 G A 120308100 2876 137 AAGCCAAAGACAGCACTATCATTGCATGGATTTTATACTCACAGTGTCCTGAATTGTTTCACTTTTCTCTGGGTTTTCCTCTAGATAAATTCTCTCTTTTGGGCCACTCTTGGGACTCTAATGAAAAAAACAAGATCTTCAGTTCATTTCAATAGGCACACCAAAAGGAG 120437254 120437424 120437390 120437391 120437391 downstr_intron 9 1.21951219512195 CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATAAAATCCATGCAATGATAGTGCTGTCTTTGGCTT CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT mutant NA NA NA NA NA 323 66 1 1 1 0.999524721856332 1 0.979788841641012 0.991289194322452 NA NA 0.0202111583589881 0.00871080567754845 0.999762360928166 0.985539017981732 NA 0.0144609820182683 NA FALSE NA 0.407 0.848 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 12/40 1 NA TGA G,A 8.278e-06 11:120437391 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003484204 intron_variant 1.68643 0.34479 0.18462 0.106106 0.705144623718149 0.351353 0.99999892582633 TRUE 4.09974e-06 ENSE00001205806_019 ENSE00001205806 019 11 120307964 120308133 + 53 75 42 T G 120308108 2879 145 AAGCCAAAGACAGCACTATCATTGCCTGGATTTCATACTCACAGTGTCCTGAATTGTTTCACTTTTCTCTGGGTTTTCCTCTAGATAAATTCTCTCTTTTGGGCCACTCTTGGGACTCTAATGAAAAAAACAAGATCTTCAGTTCATTTCAATAGGCACACCAAAAGGAG 120437254 120437424 120437398 120437399 120437399 downstr_intron 17 1.41463414634146 CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCAGGCAATGATAGTGCTGTCTTTGGCTT CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT mutant NA NA NA NA NA 175 50 0.954777717872635 0.946885657972027 0.950831687922331 0.999524721856332 1 0.979788841641012 0.991289194322452 NA NA -0.0250111237683771 -0.0444035363504244 0.999762360928166 0.985539017981732 NA -0.0347073300594007 NA FALSE NA 0 -0.094 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 12/40 rs546863867 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 ATG T,G 4.967e-05 11:120437399 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003484204 intron_variant 0.355918 0.17179 0.13055 0.088506 0.661855428795311 0.0698953 0.99999892582633 TRUE 4.1154e-05 ENSE00001205806_021 ENSE00001205806 021 11 120307964 120308133 + 53 75 42 A G 120308112 2881 149 AAGCCAAAGACAGCACTATCACTGCATGGATTTCATACTCACAGTGTCCTGAATTGTTTCACTTTTCTCTGGGTTTTCCTCTAGATAAATTCTCTCTTTTGGGCCACTCTTGGGACTCTAATGAAAAAAACAAGATCTTCAGTTCATTTCAATAGGCACACCAAAAGGAG 120437254 120437424 120437402 120437403 120437403 downstr_intron 21 1.51219512195122 CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAGTGATAGTGCTGTCTTTGGCTT CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT mutant NA NA NA NA NA 28 91 0.952153060652088 0.964761499313153 0.958457279982621 0.999524721856332 1 0.979788841641012 0.991289194322452 NA NA -0.0276357809889234 -0.0265276950092981 0.999762360928166 0.985539017981732 NA -0.0270817379991107 NA FALSE NA 0 -0.309 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 12/40 1 NA AAT A,G 8.278e-06 11:120437403 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003484204 intron_variant 0.239328 0.1262 0.03242 0.088506 0.747025510655499 0.0698953 0.99999892582633 TRUE 8.25246e-06 ENSE00001205806_023 ENSE00001205806 023 11 120307964 120308133 + 53 75 42 T C 120308116 2883 153 AAGCCAAAGACAGCACTGTCATTGCATGGATTTCATACTCACAGTGTCCTGAATTGTTTCACTTTTCTCTGGGTTTTCCTCTAGATAAATTCTCTCTTTTGGGCCACTCTTGGGACTCTAATGAAAAAAACAAGATCTTCAGTTCATTTCAATAGGCACACCAAAAGGAG 120437254 120437424 120437406 120437407 120437407 downstr_intron 25 1.60975609756098 CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGACAGTGCTGTCTTTGGCTT CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT mutant NA NA NA NA NA 17 53 1 0.951232166999489 0.975616083499744 0.999524721856332 1 0.979788841641012 0.991289194322452 NA NA 0.0202111583589881 -0.0400570273229626 0.999762360928166 0.985539017981732 NA -0.00992293448198722 NA FALSE NA 0 -0.315 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 12/40 1 NA ATA T,C 8.278e-06 11:120437407 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003484204 intron_variant 0.254415 0.13206 0.0277 0.088506 0.777137550250562 0.0698953 0.99999892582633 TRUE 4.16507e-06 ENSE00001205806_024 ENSE00001205806 024 11 120307964 120308133 + 53 75 42 G A 120308118 2884 155 AAGCCAAAGACAGCATTATCATTGCATGGATTTCATACTCACAGTGTCCTGAATTGTTTCACTTTTCTCTGGGTTTTCCTCTAGATAAATTCTCTCTTTTGGGCCACTCTTGGGACTCTAATGAAAAAAACAAGATCTTCAGTTCATTTCAATAGGCACACCAAAAGGAG 120437254 120437424 120437408 120437409 120437409 downstr_intron 27 1.65853658536585 CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAATGCTGTCTTTGGCTT CTCCTTTTGGTGTGCCTATTGAAATGAACTGAAGATCTTGTTTTTTTCATTAGAGTCCCAAGAGTGGCCCAAAAGAGAGAATTTATCTAGAGGAAAACCCAGAGAAAAGTGAAACAATTCAGGACACTGTGAGTATGAAATCCATGCAATGATAGTGCTGTCTTTGGCTT mutant NA NA NA NA NA 16 52 1 1 1 0.999524721856332 1 0.979788841641012 0.991289194322452 NA NA 0.0202111583589881 0.00871080567754845 0.999762360928166 0.985539017981732 NA 0.0144609820182683 NA FALSE NA 0 -1.014 . intron_variant MODIFIER ARHGEF12 HGNC 14193 ENST00000532993 12/40 1 NA AGT G,A 8.277e-06 11:120437409 ARHGEF12 HGNC Symbol protein_coding 153022 ENSG00000196914 ENSE00003484204 intron_variant 0.386968 0.17136 0.07032 0.088506 0.643763701955433 0.0698953 0.99999892582633 TRUE 1.25184e-05 ENSE00001205834_000 ENSE00001205834 000 13 61057855 61058024 + 54 72 44 NA NA NA NA NA GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 NA NA NA NA NA NA GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG natural 353 782 0.846888213385304 0.838667858450591 0.842778035917948 12319 6730 0.908351765256205 0.731020101566014 0.81968593341111 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 0 0 0 0 0.842778035917948 0.81968593341111 0 0 0 FALSE FALSE NA NA NA NA NA TDRD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TDRD3 NA NA NA ENSG00000083544 ENSE00001205834 NA NA NA NA NA NA NA 0.000211829294720341 FALSE NA ENSE00001205834_001 ENSE00001205834 001 13 61057855 61058024 + 54 72 44 T C 61057868 157 14 GGAAATATATTTTCTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483733 60483734 60483734 upstr_intron -41 -0.740740740740741 GGAAATATATTTTCTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 18 21 0.85 0.85 0.85 927 248 0.959484563219024 0.934073963528434 0.946779263373729 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 0.00311178661469591 0.011332141549409 0.0511327979628192 0.20305386196242 0.842778035917948 0.81968593341111 0.00722196408205245 0.12709332996262 0.119871365880567 FALSE FALSE 0 -0.079 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 5/6 1 NA TTT T,C 8.237e-06 13:60483734 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant 0.360341 0.1653 0.07047 0.078448 0.718593588301267 0.0699399 0.000211829294720341 FALSE 4.55705e-06 ENSE00001205834_002 ENSE00001205834 002 13 61057855 61058024 + 54 72 44 T A 61057869 158 15 GGAAATATATTTTTAATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483734 60483735 60483735 upstr_intron -40 -0.722222222222222 GGAAATATATTTTTAATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 1119 3084 0.970086280008449 0.965772191121716 0.967929235565082 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.061734514752244 0.234752089555702 0.842778035917948 0.81968593341111 NA 0.148243302153973 NA FALSE NA 0 -0.332 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 5/6 1 NA TTA T,A 1.647e-05 13:60483735 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant 0.663595 0.16699 0.03996 0.078448 0.728730780093588 0.0699399 0.000211829294720341 FALSE 9.11502e-06 ENSE00001205834_003 ENSE00001205834 003 13 61057855 61058024 + 54 72 44 A G 61057874 159 20 GGAAATATATTTTTTATGTGTAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483739 60483740 60483740 upstr_intron -35 -0.62962962962963 GGAAATATATTTTTTATGTGTAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 1602 1304 0.954485375694628 0.950537832460213 0.95251160407742 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.0461336104384237 0.219517730894198 0.842778035917948 0.81968593341111 NA 0.132825670666311 NA FALSE NA 0.002 -0.507 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 5/6 1 NA TAT A,G 8.237e-06 13:60483740 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant 0.380756 0.14968 0.01055 0.162113 0.612059822002808 0.0699399 0.000211829294720341 FALSE 4.36133e-06 ENSE00001205834_004 ENSE00001205834 004 13 61057855 61058024 + 54 72 44 T C 61057879 160 25 GGAAATATATTTTTTATGTATAACCGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483744 60483745 60483745 upstr_intron -30 -0.537037037037037 GGAAATATATTTTTTATGTATAACCGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 28 22 0.82533822258759 0.726051334004633 0.775694778296111 2160 6526 0.941621042127546 0.980786521812988 0.961203781970267 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 -0.0215499907977141 -0.112616524445958 0.0332692768713412 0.249766420246974 0.842778035917948 0.81968593341111 -0.0670832576218362 0.141517848559158 0.208601106180994 FALSE FALSE 0.039 0.597 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 5/6 1 NA CTG T,C 1.647e-05 13:60483745 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant -0.091389 0.19894 0.19817 0.162113 0.581746490513661 0.0689857 0.000211829294720341 FALSE 4.30233e-06 ENSE00001205834_005 ENSE00001205834 005 13 61057855 61058024 + 54 72 44 T C 61057886 161 32 GGAAATATATTTTTTATGTATAACTGCTCTTCTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483751 60483752 60483752 upstr_intron -23 -0.407407407407407 GGAAATATATTTTTTATGTATAACTGCTCTTCTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 2995 388 0.94591390906761 0.948734001524408 0.947323955296009 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.0375621438114049 0.217713899958393 0.842778035917948 0.81968593341111 NA 0.127638021884899 NA FALSE NA 0.941 1.408 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 5/6 1 NA TTT T,C 8.236e-06 13:60483752 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant 0.184424 0.29849 0.66879 0.162113 0.493931605742798 0.528979 0.000211829294720341 FALSE 4.24311e-06 ENSE00001205834_007 ENSE00001205834 007 13 61057855 61058024 + 54 72 44 G A 61057888 163 34 GGAAATATATTTTTTATGTATAACTGCTCTTTTATGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483753 60483754 60483754 upstr_intron -21 -0.37037037037037 GGAAATATATTTTTTATGTATAACTGCTCTTTTATGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 26 145 0.85 0.85 0.85 3644 2365 0.879803893016155 0.947865611242039 0.913834752129097 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 0.00311178661469591 0.0113321415494091 -0.0285478722400495 0.216845509676024 0.842778035917948 0.81968593341111 0.0072219640820525 0.0941488187179875 0.086926854635935 FALSE FALSE 0.802 0.348 NA NA NA TDRD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 13:60483754 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant -0.053666 0.08851 0.00135 0.162113 0.694771673761972 0.0588881 0.000211829294720341 FALSE 4.27581e-06 ENSE00001205834_009 ENSE00001205834 009 13 61057855 61058024 + 54 72 44 A G 61057891 165 37 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGGCTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483756 60483757 60483757 upstr_intron -18 -0.314814814814815 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGGCTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 1540 383 0.800209246276836 0.8 0.800104623138418 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA -0.108142518979369 0.0689798984339859 0.842778035917948 0.81968593341111 NA -0.0195813102726913 NA FALSE NA 0.723 2.09 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 5/6 1 NA GAC A,G 2.471e-05 13:60483757 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant 0.146635 0.25747 0.28371 0.162113 0.624200826298849 0.0597512 0.000211829294720341 FALSE 2.13127e-05 ENSE00001205834_010 ENSE00001205834 010 13 61057855 61058024 + 54 72 44 C T 61057904 166 50 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCTGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483769 60483770 60483770 upstr_intron -5 -0.0740740740740741 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCTGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 25 16 0.85 0.85 0.85 1379 897 0.877139913457908 0.951068109036986 0.914104011247447 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 0.00311178661469591 0.011332141549409 -0.0312118517982966 0.220048007470971 0.842778035917948 0.81968593341111 0.00722196408205245 0.0944180778363374 0.087196113754285 FALSE FALSE 0.11 0.741 . splice_region_variant&intron_variant LOW TDRD3 HGNC 20612 ENST00000377882 5/6 rs369856917 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0.0002 CCG C,T 0.0001071 13:60483770 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 splice_region_variant 1.496913 0.53354 0.30172 0.162113 0.59541836033537 0.116528 0.000211829294720341 FALSE 9.26729e-05 ENSE00001205834_011 ENSE00001205834 011 13 61057855 61058024 + 54 72 44 G A 61057905 167 51 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCACAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483770 60483771 60483771 upstr_intron -4 -0.0555555555555556 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCACAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 1772 427 0.899349018274827 0.953617141496731 0.926483079885779 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA -0.00900274698137793 0.222597039930717 0.842778035917948 0.81968593341111 NA 0.106797146474669 NA FALSE NA 0.13 1.319 . splice_region_variant&intron_variant LOW TDRD3 HGNC 20612 ENST00000377882 5/6 1 NA CGC A,A 9.884e-05 13:60483771 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 splice_region_variant 1.536494 0.79353 0.05432 0.162113 0.735178164666028 0.148482 0.000211829294720341 FALSE 5.48588e-05 ENSE00001205834_012 ENSE00001205834 012 13 61057855 61058024 + 54 72 44 C T 61057911 168 57 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGTTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483776 60483777 60483777 exon 3 0.0416666666666667 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGTTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 182 1609 0.948318443045935 0.858979352850736 0.903648897948336 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.0399666777897304 0.127959251284722 0.842778035917948 0.81968593341111 NA 0.0839629645372263 NA FALSE NA 1 0.791 . splice_region_variant&synonymous_variant LOW TDRD3 HGNC 20612 ENST00000377882 6/7 1 NA GCT C,T 8.236e-06 13:60483777 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 splice_region_variant 2.015028 0.96703 0.56515 0.638212 0.650678627682578 0 0.000211829294720341 FALSE 4.1616e-06 ENSE00001205834_013 ENSE00001205834 013 13 61057855 61058024 + 54 72 44 A G 61057922 169 68 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACGCAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483787 60483788 60483788 exon 14 0.194444444444444 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACGCAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 199 1097 0.995574565072777 0.997631215277802 0.996602890175289 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.0872227998165721 0.266611113711788 0.842778035917948 0.81968593341111 NA 0.17691695676418 NA FALSE NA 1 8.114 . missense_variant MODERATE TDRD3 HGNC 20612 ENST00000377882 6/7 1 deleterious(0.01) possibly_damaging(0.841) NA CAC A,G 4.118e-05 13:60483788 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 missense_variant 5.237028 0.99214 0.99562 0.638212 0.998155755127757 0 0.000211829294720341 FALSE 2.8632e-05 ENSE00001205834_014 ENSE00001205834 014 13 61057855 61058024 + 54 72 44 A G 61057934 170 80 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAGTATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483799 60483800 60483800 exon 26 0.361111111111111 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAGTATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 152 208 0.82805584499788 0.85 0.83902792249894 2016 1240 0.936205670228551 0.921485339798235 0.928845505013393 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 -0.0188323683874242 0.0113321415494089 0.0278539049723464 0.19046523823222 0.842778035917948 0.81968593341111 -0.00375011341900766 0.109159571602283 0.112909685021291 FALSE FALSE 1 8.114 . missense_variant MODERATE TDRD3 HGNC 20612 ENST00000377882 6/7 1 tolerated(0.17) benign(0.055) NA AAT A,G 8.236e-06 13:60483800 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 missense_variant 4.358227 0.99214 0.99562 0.638212 0.99860523355976 0 0.000211829294720341 FALSE 4.07017e-06 ENSE00001205834_015 ENSE00001205834 015 13 61057855 61058024 + 54 72 44 A G 61057936 171 82 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATGTTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483801 60483802 60483802 exon 28 0.388888888888889 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATGTTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 1762 2057 0.983342194425905 0.991892467633787 0.987617331029846 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.0749904291697003 0.260872366067773 0.842778035917948 0.81968593341111 NA 0.167931397618737 NA FALSE NA 1 6.346 . missense_variant MODERATE TDRD3 HGNC 20612 ENST00000377882 6/7 rs201745470 1 tolerated(0.15) benign(0.008) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAT A,G 0.0002306 13:60483802 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 missense_variant 3.562383 0.98691 0.98167 0.638212 0.981065317197013 0 0.000211829294720341 FALSE 0.000187161 ENSE00001205834_016 ENSE00001205834 016 13 61057855 61058024 + 54 72 44 T C 61057937 172 83 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATACTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483802 60483803 60483803 exon 29 0.402777777777778 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATACTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 741 766 0.998659418762054 0.992454501011965 0.995556959887009 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.090307653505849 0.26143439944595 0.842778035917948 0.81968593341111 NA 0.1758710264759 NA FALSE NA 1 6.982 . missense_variant MODERATE TDRD3 HGNC 20612 ENST00000377882 6/7 rs573483141 1 tolerated(0.05) benign(0.064) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATT T,C 1.647e-05 13:60483803 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 missense_variant 4.658997 0.99176 0.99369 0.693126 0.997526456493113 0 0.000211829294720341 FALSE 8.1367e-06 ENSE00001205834_018 ENSE00001205834 018 13 61057855 61058024 + 54 72 44 G T 61057968 174 114 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTTCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483833 60483834 60483834 exon -13 0.833333333333333 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTTCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 59 114 0 0 0 1453 310 0.0908660997808528 0.0460973310146813 0.0684817153977671 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 -0.846888213385304 -0.838667858450591 -0.817485665475352 -0.684922770551333 0.842778035917948 0.81968593341111 -0.842778035917948 -0.751204218013342 0.0915738179046052 TRUE TRUE 1 1.922 . synonymous_variant LOW TDRD3 HGNC 20612 ENST00000377882 6/7 1 NA TGC G,T 8.236e-06 13:60483834 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 synonymous_variant 0.960792 0.97915 0.93875 0.706298 0.81081034038791 0 0.000211829294720341 FALSE 4.07193e-06 ENSE00001205834_019 ENSE00001205834 019 13 61057855 61058024 + 54 72 44 T C 61057974 175 120 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTCGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483839 60483840 60483840 exon -7 0.916666666666667 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTCGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 810 1434 0.988641606851836 0.984763775268635 0.986702691060236 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.0802898415956317 0.253743673702621 0.842778035917948 0.81968593341111 NA 0.167016757649126 NA FALSE NA 1 4.281 . synonymous_variant LOW TDRD3 HGNC 20612 ENST00000377882 6/7 1 NA TTG T,C 8.236e-06 13:60483840 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 synonymous_variant 0.631318 0.98264 0.95987 0.706298 0.672408595869446 0 0.000211829294720341 FALSE 4.07355e-06 ENSE00001205834_020 ENSE00001205834 020 13 61057855 61058024 + 54 72 44 T C 61057985 176 131 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAACGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483850 60483851 60483851 downstr_intron 5 1.11627906976744 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAACGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 129 188 0.85 0.85 0.85 1369 1799 0.876920079704957 0.84015827392254 0.858539176813748 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 0.00311178661469591 0.011332141549409 -0.0314316855512482 0.109138172356526 0.842778035917948 0.81968593341111 0.00722196408205245 0.0388532434026387 0.0316312793205863 FALSE FALSE 0.924 1.17 . splice_region_variant&intron_variant LOW TDRD3 HGNC 20612 ENST00000377882 6/6 rs200821664 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATG T,C 1.647e-05 13:60483851 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 splice_region_variant 0.391727 0.49762 0.29739 0.053691 0.638767866969192 0.137874 0.000211829294720341 FALSE 1.63866e-05 ENSE00001205834_021 ENSE00001205834 021 13 61057855 61058024 + 54 72 44 G T 61057995 177 141 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTTTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483860 60483861 60483861 downstr_intron 15 1.34883720930233 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTTTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 1247 1949 0.989818951806769 0.99691293032119 0.99336594106398 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA 0.0814671865505647 0.265892828755176 0.842778035917948 0.81968593341111 NA 0.17368000765287 NA FALSE NA 0 -2.364 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 6/6 1 NA TGT G,T 8.236e-06 13:60483861 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant -0.203803 0.15305 0.01048 0.053691 0.438120945841279 0.0946271 0.000211829294720341 FALSE 4.12827e-06 ENSE00001205834_022 ENSE00001205834 022 13 61057855 61058024 + 54 72 44 A C 61058001 178 147 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCCGATGAATTTAAATTAGGAAAAAG 60483720 60483890 60483866 60483867 60483867 downstr_intron 21 1.48837209302326 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCCGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant NA NA NA NA NA 868 611 0.621611108444439 0.812089683347738 0.716850395896088 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA -0.286740656811766 0.0810695817817237 0.842778035917948 0.81968593341111 NA -0.102835537515021 NA FALSE NA 0.067 0.335 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 6/6 1 NA CAG A,C 8.236e-06 13:60483867 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant -0.338768 0.29945 0.1359 0.053691 0.608986902780473 0.0957804 0.000211829294720341 FALSE NA ENSE00001205834_023 ENSE00001205834 023 13 61057855 61058024 + 54 72 44 A G 61058011 179 157 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTGAATTAGGAAAAAG 60483720 60483890 60483876 60483877 60483877 downstr_intron 31 1.72093023255814 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTGAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 21 96 0.823449789553965 0.85 0.836724894776983 1504 169 0.973994098381241 0.9185420131435 0.946268055762371 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 -0.0234384238313391 0.011332141549409 0.0656423331250365 0.187521911577486 0.842778035917948 0.81968593341111 -0.00605314114096506 0.126582122351261 0.132635263492226 FALSE FALSE 0.001 -1.681 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 6/6 rs576795847 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TAA A,G 8.236e-06 13:60483877 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant 0.791519 0.96839 0.07566 0.053691 0.712855400676719 0.154101 0.000211829294720341 FALSE 4.12681e-06 ENSE00001205834_024 ENSE00001205834 024 13 61057855 61058024 + 54 72 44 T G 61058014 180 160 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAAGTAGGAAAAAG 60483720 60483890 60483879 60483880 60483880 downstr_intron 34 1.7906976744186 GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAAGTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG mutant 14 26 0.85 0.85 0.85 352 1587 0.951064176831109 0.950100722340134 0.950582449585621 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 0.00311178661469591 0.0113321415494089 0.0427124115749038 0.21908062077412 0.842778035917948 0.81968593341111 0.00722196408205239 0.130896516174512 0.123674552092459 FALSE FALSE 0.864 3.569 . intron_variant MODIFIER TDRD3 HGNC 20612 ENST00000377882 6/6 1 NA ATT T,G 2.471e-05 13:60483880 TDRD3 HGNC Symbol protein_coding 177421 ENSG00000083544 ENSE00001205834 intron_variant 0.891541 0.84348 0.73783 0.053691 0.812390300205475 0.154101 0.000211829294720341 FALSE 2.89161e-05 ENSE00001205834_BRK ENSE00001205834 BRK 13 61057855 61058024 + 54 72 44 A,G; T,T NA NA NA GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCTTAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGCCAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG 60483720 60483890 NA NA NA NA NA NA GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCTTAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGCCAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG GGAAATATATTTTTTATGTATAACTGCTCTTTTGTGACTGGATTTTTTCCGCAGAGCTTATCAAAACACAATAGAAGCAATATTGGAACTGAAGGTGGACCACCGCCTTTTGTGCCTTTTGGACAGGTAATGACTTTTGTGTTGGCAGATGAATTTAAATTAGGAAAAAG control NA NA NA NA NA 572 2774 0.0155832625056322 0.0153622754222013 0.0154727689639167 0.846888213385304 0.838667858450591 0.908351765256205 0.731020101566014 NA NA -0.892768502750573 -0.715657826143813 0.842778035917948 0.81968593341111 NA -0.804213164447193 NA TRUE NA NA NA NA NA NA TDRD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TDRD3 NA NA NA ENSG00000083544 ENSE00001205834 NA NA NA NA NA NA NA 0.000211829294720341 FALSE NA ENSE00001207388_000 ENSE00001207388 000 7 128804273 128804442 + 42 96 32 NA NA NA NA NA GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 NA NA NA NA NA NA GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG natural 613 399 0.963438478354898 0.981028377834829 0.972233428094864 5916 7063 0.957807874491199 0.974813996625822 0.96631093555851 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 0 0 0 0 0.972233428094864 0.96631093555851 0 0 0 FALSE FALSE NA NA NA NA NA Y_RNA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN33 NA NA NA ENSG00000158457 ENSE00003744277 NA NA NA NA NA NA NA 0.000103178201876671 FALSE NA ENSE00001207388_001 ENSE00001207388 001 7 128804273 128804442 + 42 96 32 T C 128804286 2445 14 GATTAGTCCTGTGCTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164444 129164445 129164445 upstr_intron -29 -0.666666666666667 GATTAGTCCTGTGCTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1920 1077 0.935893398359982 0.988196397721051 0.962044898040516 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA -0.0219144761312178 0.0133824010952293 0.972233428094864 0.96631093555851 NA -0.00426603751799426 NA FALSE NA 0 1.085 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA GTT T,C 8.236e-06 7:129164445 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 intron_variant 0.344728 0.56001 0.37051 0.298561 0.786907967887381 0.217476 0.000103178201876671 FALSE 1.22174e-05 ENSE00001207388_002 ENSE00001207388 002 7 128804273 128804442 + 42 96 32 C T 128804299 2446 27 GATTAGTCCTGTGTTCTGATTCCTTGTCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164457 129164458 129164458 upstr_intron -16 -0.357142857142857 GATTAGTCCTGTGTTCTGATTCCTTGTCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 431 159 0.994389713223934 0.827986623164356 0.911188168194145 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0365818387327351 -0.146827373461465 0.972233428094864 0.96631093555851 NA -0.0551227673643652 NA FALSE NA 0 0.139 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA GCC C,T 8.236e-06 7:129164458 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 intron_variant 0.492851 0.43076 0.23172 0.298561 0.7713127128437 0.151369 0.000103178201876671 FALSE 8.13524e-06 ENSE00001207388_003 ENSE00001207388 003 7 128804273 128804442 + 42 96 32 C T 128804301 2447 29 GATTAGTCCTGTGTTCTGATTCCTTGCCTATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164459 129164460 129164460 upstr_intron -14 -0.30952380952381 GATTAGTCCTGTGTTCTGATTCCTTGCCTATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 2781 149 0.999529676903402 0.944147118813644 0.971838397858523 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.041721802412203 -0.0306668778121771 0.972233428094864 0.96631093555851 NA 0.00552746230001294 NA FALSE NA 0 -0.416 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA CCA C,T 1.647e-05 7:129164460 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 intron_variant 0.686371 0.43115 0.04552 0.298561 0.763874253088651 0.154034 0.000103178201876671 FALSE 4.06696e-06 ENSE00001207388_004 ENSE00001207388 004 7 128804273 128804442 + 42 96 32 C T 128804309 2448 37 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCTGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164467 129164468 129164468 upstr_intron -6 -0.119047619047619 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCTGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 2156 426 0.971356237819966 0.985967261457488 0.978661749638727 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0135483633287671 0.0111532648316663 0.972233428094864 0.96631093555851 NA 0.0123508140802167 NA FALSE NA 0.942 -0.061 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 rs202188699 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0043 T:0.0002 CCG C,T 0.0004036 7:129164468 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 splice_region_variant 1.153028 0.93757 0.23546 0.298561 0.802282774562928 0.285568 0.000103178201876671 FALSE 0.000353733 ENSE00001207388_005 ENSE00001207388 005 7 128804273 128804442 + 42 96 32 G A 128804310 2449 38 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCAGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164468 129164469 129164469 upstr_intron -5 -0.0952380952380952 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCAGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 672 1661 0.87020093089446 0.994875908207783 0.932538419551121 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA -0.0876069435967388 0.020061911581961 0.972233428094864 0.96631093555851 NA -0.0337725160073889 NA FALSE NA 1 2.455 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:129164469 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 splice_region_variant 1.389571 0.96457 0.81467 0.298561 0.760638051411953 0.436465 0.000103178201876671 FALSE 5.28554e-05 ENSE00001207388_006 ENSE00001207388 006 7 128804273 128804442 + 42 96 32 G C 128804310 2450 38 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCCGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164468 129164469 129164469 upstr_intron -5 -0.0952380952380952 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCCGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 2918 1683 0.975050246625961 0.933642989256671 0.954346617941316 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0172423721347614 -0.0411710073691504 0.972233428094864 0.96631093555851 NA -0.0119643176171945 NA FALSE NA 1 2.455 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003744277 splice_region_variant 1.176255 0.97116 0.86152 0.298561 0.809436860059134 0.436465 4.67636131494537e-13 FALSE 4.47238e-05 ENSE00001207388_007 ENSE00001207388 007 7 128804273 128804442 + 42 96 32 G T 128804310 2451 38 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCTGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164468 129164469 129164469 upstr_intron -5 -0.0952380952380952 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCTGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1614 908 0.996085045028869 0.997378301517939 0.996731673273404 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0382771705376693 0.0225643048921171 0.972233428094864 0.96631093555851 NA 0.0304207377148932 NA FALSE NA 1 2.455 NA NA NA Y_RNA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN33 NA NA NA ENSG00000158457 ENSE00003744277 splice_region_variant 1.278399 0.96955 0.51878 0.298561 0.806069848959744 0.436465 0.000103178201876671 FALSE 4.0658e-06 ENSE00001207388_009 ENSE00001207388 009 7 128804273 128804442 + 42 96 32 G A 128804319 2453 47 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCAAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164477 129164478 129164478 exon 5 0.0520833333333333 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCAAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1472 302 0.999579881960953 0.998425685517104 0.999002783739029 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0417720074697538 0.0236116888912822 0.972233428094864 0.96631093555851 NA 0.032691848180518 NA FALSE NA 0.998 7.083 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 COSM1548274 1 NA CGA G,A 8.236e-06 7:129164478 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 4.406708 0.98855 0.95156 0.645754 0.998709328086687 0 0.000103178201876671 FALSE 4.06412e-06 ENSE00001207388_011 ENSE00001207388 011 7 128804273 128804442 + 42 96 32 G T 128804335 2455 63 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGATATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164493 129164494 129164494 exon 21 0.21875 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGATATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1777 684 0.999050053067706 0.965616452644311 0.982333252856008 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0412421785765065 -0.00919754398151085 0.972233428094864 0.96631093555851 NA 0.0160223172974978 NA FALSE NA 0.989 0.684 NA NA NA Y_RNA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:129164494 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 2.222929 0.96771 0.88102 0.645754 0.962359740188 0 0.000103178201876671 FALSE 4.06177e-06 ENSE00001207388_013 ENSE00001207388 013 7 128804273 128804442 + 42 96 32 A G 128804343 2457 71 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAGCAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164501 129164502 129164502 exon 29 0.302083333333333 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAGCAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 263 3908 0.99858313503098 0.997866847681457 0.998224991356219 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.040775260539781 0.0230528510556358 0.972233428094864 0.96631093555851 NA 0.0319140557977084 NA FALSE NA 1 3.181 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 COSM3928820 1 NA AAC A,G 8.236e-06 7:129164502 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 1.228263 0.97612 0.92248 0.645754 0.989152043965359 0 0.000103178201876671 FALSE 1.62462e-05 ENSE00001207388_015 ENSE00001207388 015 7 128804273 128804442 + 42 96 32 C A 128804363 2459 91 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACAGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164521 129164522 129164522 exon -48 0.510416666666667 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACAGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 2347 643 1 0.99951642083309 0.999758210416545 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0421921255088007 0.0247024242072681 0.972233428094864 0.96631093555851 NA 0.0334472748580344 NA FALSE NA 1 2.803 NA NA NA Y_RNA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:129164522 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 synonymous_variant 3.227802 0.98357 0.79775 0.645754 0.894514391345746 0 0.000103178201876671 FALSE 4.0618e-06 ENSE00001207388_016 ENSE00001207388 016 7 128804273 128804442 + 42 96 32 G A 128804364 2460 92 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCAAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164522 129164523 129164523 exon -47 0.520833333333333 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCAAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1602 1309 0.991006202261383 0.90003449049568 0.945520346378531 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0331983277701833 -0.0747795061301418 0.972233428094864 0.96631093555851 NA -0.0207905891799793 NA FALSE NA 1 9.124 rs139146581 upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 rs139146581 1 NA A:0.0002 A:0 CGA G,A 8.236e-06 7:129164523 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 6.087084 0.99392 0.97816 0.645754 0.999597982871252 0 0.000103178201876671 FALSE 1.21856e-05 ENSE00001207388_017 ENSE00001207388 017 7 128804273 128804442 + 42 96 32 G C 128804366 2461 94 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGACATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164524 129164525 129164525 exon -45 0.541666666666667 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGACATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 556 729 0.999182956927235 0.963126906827863 0.981154931877549 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0413750824360357 -0.0116870897979583 0.972233428094864 0.96631093555851 NA 0.0148439963190387 NA FALSE NA 1 9.124 rs150641480 upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 rs150641480 1 C:0.0004 C:0 C:0 NA C:0 C:0.001 C:0.001 AGA G,C 0.0004118 7:129164525 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 5.011358 0.99416 0.98135 0.645754 0.99674257530905 0 0.000103178201876671 FALSE 0.000377742 ENSE00001207388_018 ENSE00001207388 018 7 128804273 128804442 + 42 96 32 A C 128804367 2462 95 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGCTGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164525 129164526 129164526 exon -44 0.552083333333333 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGCTGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 513 2782 0.996093643060981 0.996080869853337 0.996087256457159 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0382857685697817 0.0212668732275159 0.972233428094864 0.96631093555851 NA 0.0297763208986488 NA FALSE NA 1 8.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:129164526 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 4.580566 0.99294 0.97868 0.645754 0.996063619251737 0 0.000103178201876671 FALSE 8.12315e-06 ENSE00001207388_019 ENSE00001207388 019 7 128804273 128804442 + 42 96 32 A G 128804367 2463 95 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGGTGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164525 129164526 129164526 exon -44 0.552083333333333 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGGTGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 668 70 0.827005679602866 1 0.913502839801433 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA -0.130802194888333 0.0251860033741784 0.972233428094864 0.96631093555851 NA -0.0528080957570773 NA FALSE NA 1 8.63 NA NA NA Y_RNA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN33 NA NA NA ENSG00000158457 ENSE00003744277 missense_variant 4.835971 0.99266 0.97734 0.645754 0.998679901556658 0 0.000103178201876671 FALSE 4.06157e-06 ENSE00001207388_021 ENSE00001207388 021 7 128804273 128804442 + 42 96 32 A T 128804370 2465 98 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGTCTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164528 129164529 129164529 exon -41 0.583333333333333 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGTCTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 218 261 0.996162174715786 1 0.998081087357893 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.038354300224587 0.0251860033741784 0.972233428094864 0.96631093555851 NA 0.0317701517993827 NA FALSE NA 1 8.63 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA GAC A,T 8.236e-06 7:129164529 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 4.789881 0.99288 0.97786 0.645754 0.994333789346539 0 0.000103178201876671 FALSE 4.06177e-06 ENSE00001207388_023 ENSE00001207388 023 7 128804273 128804442 + 42 96 32 C T 128804386 2467 114 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAATCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164544 129164545 129164545 exon -25 0.75 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAATCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1932 119 0.999423451312737 1 0.999711725656369 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0416155768215377 0.0251860033741784 0.972233428094864 0.96631093555851 NA 0.0334007900978581 NA FALSE NA 1 1.777 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA ACC C,T 8.236e-06 7:129164545 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 synonymous_variant 1.713236 0.9426 0.83644 0.645754 0.865290997969278 0 0.000103178201876671 FALSE 4.0623e-06 ENSE00001207388_024 ENSE00001207388 024 7 128804273 128804442 + 42 96 32 C T 128804387 2468 115 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACTTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164545 129164546 129164546 exon -24 0.760416666666667 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACTTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 361 1413 0.996646393377575 0.921800541014495 0.959223467196035 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0388385188863757 -0.0530134556113266 0.972233428094864 0.96631093555851 NA -0.00708746836247548 NA FALSE NA 1 7.21 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA CCT C,T 8.236e-06 7:129164546 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 4.039927 0.97594 0.95224 0.645754 0.99658694632479 0 0.000103178201876671 FALSE 4.0622e-06 ENSE00001207388_025 ENSE00001207388 025 7 128804273 128804442 + 42 96 32 T A 128804395 2469 123 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGAATTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164553 129164554 129164554 exon -16 0.84375 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGAATTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 3754 918 0.998675138641425 0.993181058823345 0.995928098732385 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0408672641502253 0.0183670621975232 0.972233428094864 0.96631093555851 NA 0.0296171631738743 NA FALSE NA 0.99 0.098 rs149932544 upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 rs149932544 1 NA A:0 A:0.0002 ATT T,A 5.765e-05 7:129164554 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 4.232637 0.92783 0.79211 0.645754 0.995622038895802 0 0.000103178201876671 FALSE 5.28219e-05 ENSE00001207388_026 ENSE00001207388 026 7 128804273 128804442 + 42 96 32 G C 128804399 2470 127 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTCGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164557 129164558 129164558 exon -12 0.885416666666667 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTCGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 336 940 1 1 1 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0421921255088007 0.0251860033741784 0.972233428094864 0.96631093555851 NA 0.0336890644414896 NA FALSE NA 1 4.837 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 rs375163893 1 NA C:0.0002 C:0.0001 TGG G,C 9.884e-05 7:129164558 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 4.99364 0.96823 0.91928 0.645754 0.999181270140657 0 0.000103178201876671 FALSE 0.000130034 ENSE00001207388_027 ENSE00001207388 027 7 128804273 128804442 + 42 96 32 C T 128804401 2471 129 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGTCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164559 129164560 129164560 exon -10 0.90625 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGTCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1019 2050 0.998039207610788 0.997571083934561 0.997805145772674 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0402313331195889 0.0227570873087392 0.972233428094864 0.96631093555851 NA 0.031494210214164 NA FALSE NA 0.962 -0.069 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 COSM1085423 1 NA GCC C,T 1.647e-05 7:129164560 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 synonymous_variant 1.848502 0.80068 0.50896 0.645754 0.673735617176718 0 0.000103178201876671 FALSE 8.12909e-06 ENSE00001207388_029 ENSE00001207388 029 7 128804273 128804442 + 42 96 32 A G 128804405 2473 133 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGGAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164563 129164564 129164564 exon -6 0.947916666666667 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGGAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 232 716 1 0.97619403335937 0.988097016679685 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0421921255088007 0.00138003673354803 0.972233428094864 0.96631093555851 NA 0.0217860811211744 NA FALSE NA 1 3.882 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA GAA A,G 8.236e-06 7:129164564 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 3.944783 0.96163 0.91493 0.645754 0.996451600125075 0 0.000103178201876671 FALSE NA ENSE00001207388_030 ENSE00001207388 030 7 128804273 128804442 + 42 96 32 A C 128804409 2474 137 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAACGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164567 129164568 129164568 exon -2 0.989583333333333 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAACGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1642 3319 0.828834601239261 0.976700427209441 0.902767514224351 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA -0.128973273251939 0.00188643058361937 0.972233428094864 0.96631093555851 NA -0.0635434213341596 NA FALSE NA 1 6.798 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA AAG A,C 8.236e-06 7:129164568 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 missense_variant 3.263516 0.96354 0.94711 0.645754 0.99571605408476 0 0.000103178201876671 FALSE 8.132e-06 ENSE00001207388_031 ENSE00001207388 031 7 128804273 128804442 + 42 96 32 G C 128804416 2475 144 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGCGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164574 129164575 129164575 downstr_intron 6 1.19354838709677 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGCGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 180 1198 0.979816654359659 0.807983447947 0.893900051153329 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0220087798684593 -0.166830548678822 0.972233428094864 0.96631093555851 NA -0.0724108844051811 NA FALSE NA 0.423 0.68 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 1 NA GGG G,C 8.236e-06 7:129164575 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 splice_region_variant 0.18419 0.27796 0.48736 0.298561 0.725508959010484 0.159214 0.000103178201876671 FALSE NA ENSE00001207388_032 ENSE00001207388 032 7 128804273 128804442 + 42 96 32 G A 128804417 2476 145 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGATCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 129164575 129164576 129164576 downstr_intron 7 1.2258064516129 GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGATCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG mutant NA NA NA NA NA 1925 3142 0.997613289109063 0.955798144802431 0.976705716955747 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 NA NA 0.0398054146178639 -0.0190158518233906 0.972233428094864 0.96631093555851 NA 0.0103947813972367 NA FALSE NA 0.019 0.652 . upstream_gene_variant MODIFIER Y_RNA RFAM NA ENST00000363759 rs564302837 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 GGT G,A 1.647e-05 7:129164576 TSPAN33 HGNC Symbol protein_coding 24805 ENSG00000158457 ENSE00003744277 splice_region_variant 0.67995 0.27046 0.05844 0.298561 0.711194817226789 0.0733966 0.000103178201876671 FALSE 1.62841e-05 ENSE00001207388_BRK ENSE00001207388 BRK 7 128804273 128804442 + 42 96 32 A,G; T,T NA NA NA GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCTTGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGCCATGGGTCAGCCAGTGGTCTGGGGGACTGTG 129164431 129164601 NA NA NA NA NA NA GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCTTGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGCCATGGGTCAGCCAGTGGTCTGGGGGACTGTG GATTAGTCCTGTGTTCTGATTCCTTGCCCATGTCTCCGGCAGGCTCGAGGGAAAGTGAGTGAGATCATCAACAATGCCATTGTGCACTACCGAGATGACTTGGATCTGCAGAACCTCATTGATTTTGGCCAGAAAAAGGTATGGGTCAGCCAGTGGTCTGGGGGACTGTG control 116 43 0 0 0 571 168 0.0511296644330977 0 0.0255648322165488 0.963438478354898 0.981028377834829 0.957807874491199 0.974813996625822 -0.963438478354898 -0.981028377834829 -0.906678210058102 -0.974813996625822 0.972233428094864 0.96631093555851 -0.972233428094864 -0.940746103341962 0.0314873247529021 TRUE TRUE NA NA NA NA NA Y_RNA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN33 NA NA NA ENSG00000158457 ENSE00003744277 NA NA NA NA NA NA NA 0.000103178201876671 FALSE NA ENSE00001211681_000 ENSE00001211681 000 17 33997807 33997976 + 69 42 59 NA NA NA NA NA ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 NA NA NA NA NA NA ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC natural 35 32 0.999761983848584 0.995668060704736 0.99771502227666 2279 2124 0.825402270379765 0.907417940512214 0.86641010544599 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 0 0 0 0 0.99771502227666 0.86641010544599 0 0 0 FALSE FALSE NA NA NA NA NA AP2B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP2B1 NA NA NA ENSG00000006125 ENSE00003786669 NA NA NA NA NA NA NA 0.999667233317167 TRUE NA ENSE00001211681_001 ENSE00001211681 001 17 33997807 33997976 + 69 42 59 C T 33997837 1502 31 ATATGGGCATCTAGTATTTAGCTAAATGAATTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670817 35670818 35670818 upstr_intron -39 -0.550724637681159 ATATGGGCATCTAGTATTTAGCTAAATGAATTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 142 305 1 0.999373667882424 0.999686833941212 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.0919557273702094 0.99771502227666 0.86641010544599 NA 0.133276728495222 NA FALSE NA 1 1.939 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 14/21 rs371493223 1 NA T:0.0002 T:0 ACT C,T 8.237e-06 17:35670818 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 2.068639 0.97275 0.87441 0.156188 0.808112849785816 0.970929 0.999667233317167 TRUE 8.14233e-06 ENSE00001211681_002 ENSE00001211681 002 17 33997807 33997976 + 69 42 59 T C 33997840 1503 34 ATATGGGCATCTAGTATTTAGCTAAATGAACTCCACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670820 35670821 35670821 upstr_intron -36 -0.507246376811594 ATATGGGCATCTAGTATTTAGCTAAATGAACTCCACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 769 2149 0.996304435342014 0.993318066626353 0.994811250984184 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.170902164962249 0.085900126114139 0.99771502227666 0.86641010544599 NA 0.128401145538194 NA FALSE NA 1 2.773 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 14/21 1 NA CTA T,C 8.237e-06 17:35670821 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 1.974632 0.97727 0.977 0.156188 0.793136775607475 0.829061 0.999667233317167 TRUE 4.06742e-06 ENSE00001211681_004 ENSE00001211681 004 17 33997807 33997976 + 69 42 59 T C 33997844 1505 38 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCCCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670824 35670825 35670825 upstr_intron -32 -0.449275362318841 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCCCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 137 511 1 1 1 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.0925820594877856 0.99771502227666 0.86641010544599 NA 0.13358989455401 NA FALSE NA 1 4.014 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 14/21 1 NA CTC T,C 2.471e-05 17:35670825 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 1.919326 0.97883 0.98732 0.295142 0.820663543641555 0.434434 0.999667233317167 TRUE 2.0334e-05 ENSE00001211681_005 ENSE00001211681 005 17 33997807 33997976 + 69 42 59 C T 33997847 1506 41 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTTTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670827 35670828 35670828 upstr_intron -29 -0.405797101449275 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTTTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 41 590 0.951371120774997 0.992419223235566 0.971895172005282 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.125968850395232 0.0850012827233517 0.99771502227666 0.86641010544599 NA 0.105485066559292 NA FALSE NA 1 1.552 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:35670828 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 2.164203 0.98327 0.88887 0.156188 0.863980650733165 0.977642 0.999667233317167 TRUE 4.06666e-06 ENSE00001211681_006 ENSE00001211681 006 17 33997807 33997976 + 69 42 59 C G 33997847 1507 41 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTGTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670827 35670828 35670828 upstr_intron -29 -0.405797101449275 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTGTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 364 398 1 0.982813622881776 0.991406811440888 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.075395682369562 0.99771502227666 0.86641010544599 NA 0.124996705994898 NA FALSE NA 1 1.552 NA NA NA AP2B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP2B1 NA NA NA ENSG00000006125 ENSE00003786669 intron_variant 2.006483 0.97732 0.73367 0.156188 0.741800569525362 0.977642 0.999667233317167 TRUE 1.22e-05 ENSE00001211681_007 ENSE00001211681 007 17 33997807 33997976 + 69 42 59 C A 33997852 1508 46 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCATCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670832 35670833 35670833 upstr_intron -24 -0.333333333333333 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCATCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant 22 15 0.956183901871389 0.973044303654639 0.964614102763014 372 2529 1 0.999123491604563 0.999561745802281 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 -0.0435780819771945 -0.0226237570500969 0.174597729620235 0.0917055510923483 0.99771502227666 0.86641010544599 -0.0331009195136457 0.133151640356292 0.166252559869937 FALSE FALSE 1 2.093 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 14/21 1 NA CCT C,A 8.237e-06 17:35670833 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 1.980945 0.98125 0.96864 0.156188 0.795957490665971 0.854881 0.999667233317167 TRUE NA ENSE00001211681_008 ENSE00001211681 008 17 33997807 33997976 + 69 42 59 C G 33997854 1509 48 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTGTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670834 35670835 35670835 upstr_intron -22 -0.304347826086957 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTGTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 318 261 0.968658549042756 0.992199556288579 0.980429052665667 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.143256278662991 0.0847816157763647 0.99771502227666 0.86641010544599 NA 0.114018947219678 NA FALSE NA 1 1.238 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 14/21 1 NA TCT C,G 8.236e-06 17:35670835 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 1.979552 0.98369 0.91058 0.156188 0.765667220660115 0.977531 0.999667233317167 TRUE 4.066e-06 ENSE00001211681_009 ENSE00001211681 009 17 33997807 33997976 + 69 42 59 C T 33997888 1510 82 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACTTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670868 35670869 35670869 exon 13 0.30952380952381 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACTTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 578 1524 1 0.97631495673224 0.98815747836612 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.068897016220026 0.99771502227666 0.86641010544599 NA 0.12174737292013 NA FALSE NA 1 7.194 . missense_variant MODERATE AP2B1 HGNC 563 ENST00000589344 15/22 1 tolerated(0.21) benign(0.309) NA CCT C,T 8.236e-06 17:35670869 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 missense_variant 2.554227 0.99403 0.99249 0.732398 0.991767566376993 0 0.999667233317167 TRUE 4.06299e-06 ENSE00001211681_010 ENSE00001211681 010 17 33997807 33997976 + 69 42 59 G A 33997894 1511 88 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCAGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670874 35670875 35670875 exon 19 0.452380952380952 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCAGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 293 907 1 0.971647927528477 0.985823963764239 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.0642299870162628 0.99771502227666 0.86641010544599 NA 0.119413858318249 NA FALSE NA 1 9.078 . missense_variant MODERATE AP2B1 HGNC 563 ENST00000589344 15/22 1 tolerated(0.1) benign(0.395) NA CGG G,A 8.236e-06 17:35670875 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 missense_variant 4.244008 0.99417 0.99502 0.732398 0.999110615623708 0 0.999667233317167 TRUE 4.06316e-06 ENSE00001211681_011 ENSE00001211681 011 17 33997807 33997976 + 69 42 59 A G 33997900 1512 94 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCGTTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670880 35670881 35670881 exon -18 0.595238095238095 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCGTTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 1553 74 0.893241478393538 1 0.946620739196769 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.0678392080137733 0.0925820594877856 0.99771502227666 0.86641010544599 NA 0.0802106337507795 NA FALSE NA 1 5.216 . missense_variant MODERATE AP2B1 HGNC 563 ENST00000589344 15/22 rs572610027 1 tolerated(0.76) benign(0) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 1.647e-05 17:35670881 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 missense_variant 0.918435 0.97853 0.89866 0.732398 0.868060768150433 0 0.999667233317167 TRUE 1.21877e-05 ENSE00001211681_013 ENSE00001211681 013 17 33997807 33997976 + 69 42 59 G A 33997914 1514 108 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCAGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670894 35670895 35670895 exon -4 0.928571428571429 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCAGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 230 171 0.967734521142138 1 0.983867260571069 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.142332250762373 0.0925820594877856 0.99771502227666 0.86641010544599 NA 0.117457155125079 NA FALSE NA 1 4.61 . synonymous_variant LOW AP2B1 HGNC 563 ENST00000589344 15/22 1 NA CGG G,A 4.118e-05 17:35670895 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 synonymous_variant 1.201545 0.9743 0.90041 0.732398 0.647480600905357 0 0.999667233317167 TRUE 2.03135e-05 ENSE00001211681_014 ENSE00001211681 014 17 33997807 33997976 + 69 42 59 A G 33997927 1515 121 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCGTCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670907 35670908 35670908 downstr_intron 10 1.17241379310345 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCGTCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 133 277 1 1 1 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.0925820594877856 0.99771502227666 0.86641010544599 NA 0.13358989455401 NA FALSE NA 1 5.826 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 15/21 1 NA CAT A,G 1.647e-05 17:35670908 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 1.791469 0.97548 0.99005 0.088506 0.719772233113892 0.432298 0.999667233317167 TRUE 3.65601e-05 ENSE00001211681_015 ENSE00001211681 015 17 33997807 33997976 + 69 42 59 G C 33997931 1516 125 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTCTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670911 35670912 35670912 downstr_intron 14 1.24137931034483 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTCTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 372 345 1 1 1 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.0925820594877856 0.99771502227666 0.86641010544599 NA 0.13358989455401 NA FALSE NA 0 -1.069 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 15/21 1 NA TGT G,C 8.236e-06 17:35670912 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 0.446888 0.96798 0.23033 0.088506 0.625056052024167 0.519396 0.999667233317167 TRUE 8.12916e-06 ENSE00001211681_016 ENSE00001211681 016 17 33997807 33997976 + 69 42 59 T G 33997934 1517 128 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTGTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670914 35670915 35670915 downstr_intron 17 1.29310344827586 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTGTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 667 85 1 0.998134801689135 0.999067400844567 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.0907168611769202 0.99771502227666 0.86641010544599 NA 0.132657295398578 NA FALSE NA 1 2.914 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 15/21 1 NA TTT T,G 8.236e-06 17:35670915 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 1.763105 0.99226 0.99117 0.088506 0.791402172078238 0.968538 0.999667233317167 TRUE NA ENSE00001211681_018 ENSE00001211681 018 17 33997807 33997976 + 69 42 59 T A 33997954 1519 148 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACAGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670934 35670935 35670935 downstr_intron 37 1.63793103448276 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACAGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 298 482 0.989518626067475 1 0.994759313033738 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.16411635568771 0.0925820594877856 0.99771502227666 0.86641010544599 NA 0.128349207587748 NA FALSE NA 1 1.094 rs145112954 intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 15/21 rs145112954 1 A:0.0048 A:0 A:0 NA A:0.0228 A:0 A:0.001 CTG T,A 0.001104 17:35670935 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 1.178722 0.99074 0.93954 0.088506 0.761350494790867 0.967648 0.999667233317167 TRUE 0.00121595 ENSE00001211681_019 ENSE00001211681 019 17 33997807 33997976 + 69 42 59 C T 33997956 1520 150 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGTCCCCTGTTTGATGCCTTTCC 35670787 35670957 35670936 35670937 35670937 downstr_intron 39 1.67241379310345 ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGTCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC mutant NA NA NA NA NA 65 625 1 0.99883461536036 0.99941730768018 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 NA NA 0.174597729620235 0.0914166748481458 0.99771502227666 0.86641010544599 NA 0.13300720223419 NA FALSE NA 0.993 2.367 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 15/21 1 NA GCC C,T 1.647e-05 17:35670937 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003786669 intron_variant 0.724147 0.98435 0.97124 0.088506 0.769366534610473 0.964197 0.999667233317167 TRUE 4.06901e-06 ENSE00001211681_BRK ENSE00001211681 BRK 17 33997807 33997976 + 69 42 59 A,G; T,T NA NA NA ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCTTCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCACCAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC 35670787 35670957 NA NA NA NA NA NA ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCTTCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCACCAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC ATATGGGCATCTAGTATTTAGCTAAATGAACTCTACCTCTCTCTCCTCTCTCTCCTTTCTCTCTTTCAGCTTGGCAGTGACCTTGGCGGGGGCATTGGAGGAAGTCCGGCAGTAAGTGCCATCTGTTTTTTTCACCATGAGAAGCACTGCCCCCTGTTTGATGCCTTTCC control 30 75 0 0 0 1319 1159 0.00435771554552509 0.00585634786393778 0.00510703170473143 0.999761983848584 0.995668060704736 0.825402270379765 0.907417940512214 -0.999761983848584 -0.995668060704736 -0.82104455483424 -0.901561592648277 0.99771502227666 0.86641010544599 -0.99771502227666 -0.861303073741258 0.136411948535402 TRUE TRUE NA NA NA NA NA AP2B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP2B1 NA NA NA ENSG00000006125 ENSE00003786669 NA NA NA NA NA NA NA 0.999667233317167 TRUE NA ENSE00001212230_000 ENSE00001212230 000 19 10670257 10670426 - 32 96 42 NA NA NA NA NA GGGGTCCTCCCCAGCTCACCCCCCACACTCACCCTCTTCTTTCGCTCCCGAGTCTCTTCCCTCTTCTCCTTTCTGCGCTCATCCTTACGGCGCACGGAGGACGCGATGCTGCGTGGGTAGGTCTTGACCTAGGCGCAATCAGAAAAGCCCACAAGGGCCGCAGAGATGAT 10559580 10559750 NA NA NA NA NA NA ATCATCTCTGCGGCCCTTGTGGGCTTTTCTGATTGCGCCTAGGTCAAGACCTACCCACGCAGCATCGCGTCCTCCGTGCGCCGTAAGGATGAGCGCAGAAAGGAGAAGAGGGAAGAGACTCGGGAGCGAAAGAAGAGGGTGAGTGTGGGGGGTGAGCTGGGGAGGACCCC ATCATCTCTGCGGCCCTTGTGGGCTTTTCTGATTGCGCCTAGGTCAAGACCTACCCACGCAGCATCGCGTCCTCCGTGCGCCGTAAGGATGAGCGCAGAAAGGAGAAGAGGGAAGAGACTCGGGAGCGAAAGAAGAGGGTGAGTGTGGGGGGTGAGCTGGGGAGGACCCC natural 30 65 0.761262120689855 0.784834648830458 0.773048384760156 504 406 0.987092591950543 0.995065910610604 0.991079251280574 0.761262120689855 0.784834648830458 0.987092591950543 0.995065910610604 0 0 0 0 0.773048384760156 0.991079251280574 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003686517 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00001213881_000 ENSE00001213881 000 8 139618580 139618749 - 44 72 54 NA NA NA NA NA CCTGGAGCCAGGTATCTTGGGCCCCACTGGGGTTCTCTGCTTACCGGAGGCCCACGGGGACCCAGGAAGCCAGGAAGTCCTGGGCTGCCATTTTCCCCTTTGCTTCCTTTCTGGCCCTGCAAAGAGAAAACTGAGAATTAATTCCTCAAGGTCACGTACCAACTCAAGCA 138606336 138606506 NA NA NA NA NA NA TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG natural 83 55 0.999696661772506 0.995697198845197 0.997696930308852 1973 1926 0.990571015574391 0.994386777074898 0.992478896324644 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 0 0 0 0 0.997696930308852 0.992478896324644 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003497572 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001213881_001 ENSE00001213881 001 8 139618580 139618749 - 44 72 54 G A 139618600 2229 150 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGTCCAAGATACCTGGCTCCAGG 138606336 138606506 138606356 138606357 138606357 downstr_intron 24 1.55813953488372 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGTCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 371 283 0.982023257585091 1 0.991011628792545 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA -0.00854775798929963 0.00561322292510213 0.997696930308852 0.992478896324644 NA -0.00146726753209875 NA FALSE NA 0 -1.713 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 58/64 rs377423734 1 NA A:0.0002 A:0 GGC G,A 8.24e-06 8:138606357 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 intron_variant -0.048608 0.15958 0.0064 0.061011 0.673846336898028 0.0640786 8.25832618148535e-32 FALSE NA ENSE00001213881_005 ENSE00001213881 005 8 139618580 139618749 - 44 72 54 C T 139618634 2233 116 CCTGGAGCCAGGTATCTTGGGCCCCACTGGGGTTCTCTGCTTACCGGAGGCCCATGGGGACCCAGGAAGCCAGGAAGTCCTGGGCTGCCATTTTCCCCTTTGCTTCCTTTCTGGCCCTGCAAAGAGAAAACTGAGAATTAATTCCTCAAGGTCACGTACCAACTCAAGCA 138606336 138606506 138606390 138606391 138606391 exon -11 0.861111111111111 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCATGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 341 618 0.994438145145988 1 0.997219072572994 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00386712957159741 0.00561322292510213 0.997696930308852 0.992478896324644 NA 0.00474017624834977 NA FALSE NA 0.974 2.94 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 58/65 1 unknown(0) NA ACG C,T 1.647e-05 8:138606391 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 missense_variant 4.619388 0.98549 0.87212 0.487112 0.996090512666201 0 8.25832618148535e-32 FALSE 1.64787e-05 ENSE00001213881_006 ENSE00001213881 006 8 139618580 139618749 - 44 72 54 G C 139618635 2234 115 CCTGGAGCCAGGTATCTTGGGCCCCACTGGGGTTCTCTGCTTACCGGAGGCCCACCGGGACCCAGGAAGCCAGGAAGTCCTGGGCTGCCATTTTCCCCTTTGCTTCCTTTCTGGCCCTGCAAAGAGAAAACTGAGAATTAATTCCTCAAGGTCACGTACCAACTCAAGCA 138606336 138606506 138606391 138606392 138606392 exon -12 0.847222222222222 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCGGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 474 142 0.995442524643284 0.965989319623206 0.980715922133245 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00487150906889322 -0.0283974574516919 0.997696930308852 0.992478896324644 NA -0.0117629741913993 NA FALSE NA 0.979 3.161 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 58/65 1 unknown(0) NA CGG G,C 0.0001483 8:138606392 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 missense_variant 3.501739 0.98384 0.96648 0.487112 0.988128627264895 0 8.25832618148535e-32 FALSE 0.000152354 ENSE00001213881_007 ENSE00001213881 007 8 139618580 139618749 - 44 72 54 A G 139618639 2235 111 CCTGGAGCCAGGTATCTTGGGCCCCACTGGGGTTCTCTGCTTACCGGAGGCCCACGGGGGCCCAGGAAGCCAGGAAGTCCTGGGCTGCCATTTTCCCCTTTGCTTCCTTTCTGGCCCTGCAAAGAGAAAACTGAGAATTAATTCCTCAAGGTCACGTACCAACTCAAGCA 138606336 138606506 138606395 138606396 138606396 exon -16 0.791666666666667 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGCCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 453 349 0.9930773053986 1 0.9965386526993 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00250628982420897 0.00561322292510213 0.997696930308852 0.992478896324644 NA 0.00405975637465555 NA FALSE NA 0.824 -0.096 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 58/65 1 NA GAC A,G 1.647e-05 8:138606396 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 synonymous_variant 0.689484 0.97334 0.75209 0.487112 0.809614761474309 0 8.25832618148535e-32 FALSE NA ENSE00001213881_008 ENSE00001213881 008 8 139618580 139618749 - 44 72 54 T G 139618671 2236 79 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAACATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 138606427 138606428 138606428 exon 25 0.347222222222222 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAACATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 478 50 0.999309197034264 0.993620542821393 0.996464869927828 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00873818145987337 -0.000766234253505083 0.997696930308852 0.992478896324644 NA 0.00398597360318415 NA FALSE NA 0.027 0.815 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 58/65 1 unknown(0) NA TTT T,G 8.236e-06 8:138606428 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 missense_variant 0.328068 0.24423 0.12144 0.553676 0.914830869952222 0 8.25832618148535e-32 FALSE 8.16287e-06 ENSE00001213881_009 ENSE00001213881 009 8 139618580 139618749 - 44 72 54 T A 139618672 2237 78 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGATAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 138606428 138606429 138606429 exon 24 0.333333333333333 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGATAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 2348 511 0.996169651131587 0.997479708959748 0.996824680045667 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00559863555719653 0.00309293188484971 0.997696930308852 0.992478896324644 NA 0.00434578372102312 NA FALSE NA 0.048 0.139 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 58/65 1 unknown(0) NA TTT T,A 8.236e-06 8:138606429 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 missense_variant 1.5058 0.23835 0.13531 0.553676 0.923759521366752 0 8.25832618148535e-32 FALSE 8.16013e-06 ENSE00001213881_011 ENSE00001213881 011 8 139618580 139618749 - 44 72 54 T C 139618687 2239 63 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAGGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 138606443 138606444 138606444 exon 9 0.125 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAGGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 455 698 0.998543792384183 0.995211714503853 0.996877753444018 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00797277680979203 0.000824937428955175 0.997696930308852 0.992478896324644 NA 0.0043988571193736 NA FALSE NA 0.997 0.307 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 58/65 rs569787056 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CTT T,C 4.942e-05 8:138606444 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 synonymous_variant -0.051248 0.96187 0.4674 0.553676 0.712172610179514 0 8.25832618148535e-32 FALSE 5.3082e-05 ENSE00001213881_012 ENSE00001213881 012 8 139618580 139618749 - 44 72 54 C A 139618690 2240 60 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCATAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 138606446 138606447 138606447 exon 6 0.0833333333333333 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCATAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 499 191 0.9934870410311 1 0.99674352051555 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00291602545670944 0.00561322292510213 0.997696930308852 0.992478896324644 NA 0.00426462419090579 NA FALSE NA 0.425 -0.293 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 58/65 COSM1096549 1 unknown(0) NA TCT C,A 8.237e-06 8:138606447 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 missense_variant 2.441637 0.95242 0.34838 0.553676 0.986267897733692 0 8.25832618148535e-32 FALSE NA ENSE00001213881_013 ENSE00001213881 013 8 139618580 139618749 - 44 72 54 T G 139618691 2241 59 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCCGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 138606447 138606448 138606448 exon 5 0.0694444444444444 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCCGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 33 818 1 1 1 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00942898442560947 0.00561322292510213 0.997696930308852 0.992478896324644 NA 0.0075211036753558 NA FALSE NA 0.709 0.721 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 58/65 1 unknown(0) NA CTG T,G 8.237e-06 8:138606448 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 missense_variant 1.969648 0.95925 0.59127 0.553676 0.968314474681345 0 8.25832618148535e-32 FALSE 4.08594e-06 ENSE00001213881_014 ENSE00001213881 014 8 139618580 139618749 - 44 72 54 G A 139618698 2242 52 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGTAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 138606454 138606455 138606455 upstr_intron -3 -0.037037037037037 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGTAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 101 346 0.977621375487265 0.993592837882514 0.985607106684889 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA -0.0129496400871255 -0.000793939192384019 0.997696930308852 0.992478896324644 NA -0.00687178963975477 NA FALSE NA 0.846 1.104 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 57/64 1 NA TGC G,A 8.237e-06 8:138606455 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 splice_region_variant 1.436345 0.84219 0.47272 0.061011 0.712332040846492 0.385833 8.25832618148535e-32 FALSE NA ENSE00001213881_015 ENSE00001213881 015 8 139618580 139618749 - 44 72 54 T C 139618711 2243 39 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCGGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 138606467 138606468 138606468 upstr_intron -16 -0.277777777777778 TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCGGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 205 241 1 1 1 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00942898442560947 0.00561322292510213 0.997696930308852 0.992478896324644 NA 0.0075211036753558 NA FALSE NA 0 -1.04 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 57/64 rs374503772 1 NA C:0 C:0.0001 CTG T,C 8.237e-06 8:138606468 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 intron_variant -0.339543 0.15838 0.02352 0.061011 0.5309399342568 0.0631758 8.25832618148535e-32 FALSE 4.13818e-06 ENSE00001213881_016 ENSE00001213881 016 8 139618580 139618749 - 44 72 54 C T 139618734 2244 16 CCTGGAGCCAGGTATCTTGGGCCCCACTGGGGTTCTCTGCTTACCGGAGGCCCACGGGGACCCAGGAAGCCAGGAAGTCCTGGGCTGCCATTTTCCCCTTTGCTTCCTTTCTGGCCCTGCAAAGAGAAAACTGAGAATTAATTCCTCAAGGTCATGTACCAACTCAAGCA 138606336 138606506 138606490 138606491 138606491 upstr_intron -39 -0.703703703703704 TGCTTGAGTTGGTACATGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 325 537 1 0.999634316399175 0.999817158199588 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00942898442560947 0.00524753932427757 0.997696930308852 0.992478896324644 NA 0.00733826187494352 NA FALSE NA 0 -0.086 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 57/64 1 NA ACG T,T 1.649e-05 8:138606491 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 intron_variant -0.003447 0.14939 0.01508 0.061011 0.585596481458371 0.0550493 8.25832618148535e-32 FALSE 1.80175e-05 ENSE00001213881_017 ENSE00001213881 017 8 139618580 139618749 - 44 72 54 G A 139618735 2245 15 TGCTTGAGTTGGTATGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 138606491 138606492 138606492 upstr_intron -40 -0.722222222222222 TGCTTGAGTTGGTATGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 447 127 0.999564721389073 0.987388200902742 0.993476461145907 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00899370581468262 -0.00699857617215593 0.997696930308852 0.992478896324644 NA 0.000997564821263341 NA FALSE NA 0 -0.18 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 57/64 rs369002255 1 NA A:0 A:0.0001 CGT G,A 4.947e-05 8:138606492 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 intron_variant -0.029471 0.14019 0.03906 0.061011 0.600409726644787 0.0550493 8.25832618148535e-32 FALSE 6.31154e-05 ENSE00001213881_018 ENSE00001213881 018 8 139618580 139618749 - 44 72 54 A C 139618737 2246 13 CCTGGAGCCAGGTATCTTGGGCCCCACTGGGGTTCTCTGCTTACCGGAGGCCCACGGGGACCCAGGAAGCCAGGAAGTCCTGGGCTGCCATTTTCCCCTTTGCTTCCTTTCTGGCCCTGCAAAGAGAAAACTGAGAATTAATTCCTCAAGGTCACGTCCCAACTCAAGCA 138606336 138606506 138606493 138606494 138606494 upstr_intron -42 -0.759259259259259 TGCTTGAGTTGGGACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG mutant NA NA NA NA NA 49 593 1 0.992906040146541 0.996453020073271 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA 0.00942898442560947 -0.00148073692835637 0.997696930308852 0.992478896324644 NA 0.00397412374862655 NA FALSE NA 0 -0.272 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 57/64 1 NA TAC A,C 1.649e-05 8:138606494 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003497572 intron_variant -0.258883 0.20467 0.02185 0.061011 0.674563697422679 0.0550493 8.25832618148535e-32 FALSE 9.09819e-06 ENSE00001213881_BRK ENSE00001213881 BRK 8 139618580 139618749 - 44 72 54 A,G; T,T NA NA NA TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCTTGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGCCAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG 138606336 138606506 NA NA NA NA NA NA TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCTTGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGCCAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG TGCTTGAGTTGGTACGTGACCTTGAGGAATTAATTCTCAGTTTTCTCTTTGCAGGGCCAGAAAGGAAGCAAAGGGGAAAATGGCAGCCCAGGACTTCCTGGCTTCCTGGGTCCCCGTGGGCCTCCGGTAAGCAGAGAACCCCAGTGGGGCCCAAGATACCTGGCTCCAGG control NA NA NA NA NA 203 331 0 0 0 0.999696661772506 0.995697198845197 0.990571015574391 0.994386777074898 NA NA -0.990571015574391 -0.994386777074898 0.997696930308852 0.992478896324644 NA -0.992478896324644 NA TRUE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003497572 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001213936_000 ENSE00001213936 000 8 139672622 139672791 - 57 45 68 NA NA NA NA NA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 NA NA NA NA NA NA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA natural NA NA NA NA NA 591 895 0.850275340696591 0.6997132376185 0.774994289157546 NA NA 0.850275340696591 0.6997132376185 NA NA 0 0 NA 0.774994289157546 NA 0 NA FALSE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003602830 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001213936_001 ENSE00001213936 001 8 139672622 139672791 - 57 45 68 A G 139672655 2436 137 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGACGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660411 138660412 138660412 downstr_intron 24 1.42857142857143 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGACGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 139 38 0.909884236934317 1 0.954942118467158 NA NA 0.850275340696591 0.6997132376185 NA NA 0.0596088962377255 0.3002867623815 NA 0.774994289157546 NA 0.179947829309613 NA FALSE NA 0 0.277 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 44/64 1 NA CAT A,G 8.236e-06 8:138660412 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 intron_variant 0.987088 0.15374 0.05731 0.061011 0.776803571608252 0.0965313 8.25832618148535e-32 FALSE NA ENSE00001213936_004 ENSE00001213936 004 8 139672622 139672791 - 57 45 68 G A 139672672 2439 120 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTTATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660428 138660429 138660429 downstr_intron 7 1.125 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTTATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 932 374 0.985204589124581 0.999372470657061 0.992288529890821 NA NA 0.850275340696591 0.6997132376185 NA NA 0.13492924842799 0.29965923303856 NA 0.774994289157546 NA 0.217294240733275 NA FALSE NA 0.459 0.387 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 44/64 1 NA TGA G,A 8.236e-06 8:138660429 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 splice_region_variant 1.229825 0.68011 0.15597 0.061011 0.692826284565779 0.0944706 8.25832618148535e-32 FALSE 8.12638e-06 ENSE00001213936_005 ENSE00001213936 005 8 139672622 139672791 - 57 45 68 C T 139672679 2440 113 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCAGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660435 138660436 138660436 exon -1 1 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCAGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 78 230 1 1 1 NA NA 0.850275340696591 0.6997132376185 NA NA 0.149724659303409 0.3002867623815 NA 0.774994289157546 NA 0.225005710842454 NA FALSE NA 0.988 -0.013 . splice_region_variant&synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 44/65 1 NA CCG C,T 8.236e-06 8:138660436 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 splice_region_variant 1.475484 0.88836 0.02621 0.553676 0.681965840434027 0 8.25832618148535e-32 FALSE 4.06418e-06 ENSE00001213936_006 ENSE00001213936 006 8 139672622 139672791 - 57 45 68 G A 139672680 2441 112 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCTGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660436 138660437 138660437 exon -2 0.977777777777778 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCTGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 23 184 1 1 1 NA NA 0.850275340696591 0.6997132376185 NA NA 0.149724659303409 0.3002867623815 NA 0.774994289157546 NA 0.225005710842454 NA FALSE NA 1 4.808 . missense_variant&splice_region_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 44/65 1 unknown(0) NA CGG G,A 4.118e-05 8:138660437 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 missense_variant 3.581983 0.98041 0.93371 0.553676 0.978316164956097 0 8.25832618148535e-32 FALSE 4.47064e-05 ENSE00001213936_007 ENSE00001213936 007 8 139672622 139672791 - 57 45 68 G A 139672681 2442 111 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGTCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660437 138660438 138660438 exon -3 0.955555555555556 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGTCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 149 510 0.997487379975552 1 0.998743689987776 NA NA 0.850275340696591 0.6997132376185 NA NA 0.14721203927896 0.3002867623815 NA 0.774994289157546 NA 0.22374940083023 NA FALSE NA 1 4.808 . missense_variant&splice_region_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 44/65 rs369701678 1 unknown(0) NA A:0 A:0.0001 GGC G,A 8.237e-06 8:138660438 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 missense_variant 2.601884 0.98005 0.93343 0.553676 0.994439876746251 0 8.25832618148535e-32 FALSE 4.06382e-06 ENSE00001213936_008 ENSE00001213936 008 8 139672622 139672791 - 57 45 68 G A 139672693 2443 99 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGTCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660449 138660450 138660450 exon -15 0.688888888888889 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGTCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 1067 144 1 0.988677434277791 0.994338717138896 NA NA 0.850275340696591 0.6997132376185 NA NA 0.149724659303409 0.288964196659291 NA 0.774994289157546 NA 0.21934442798135 NA FALSE NA 1 3.232 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 44/65 1 unknown(0) NA GGC G,A 8.237e-05 8:138660450 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 missense_variant 2.932134 0.98068 0.89549 0.553676 0.531203573760304 0 8.25832618148535e-32 FALSE 4.47511e-05 ENSE00001213936_013 ENSE00001213936 013 8 139672622 139672791 - 57 45 68 C T 139672698 2448 94 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAAAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660454 138660455 138660455 exon -20 0.577777777777778 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAAAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 581 1013 1 0.998979157595223 0.999489578797611 NA NA 0.850275340696591 0.6997132376185 NA NA 0.149724659303409 0.299265919976722 NA 0.774994289157546 NA 0.224495289640065 NA FALSE NA 1 1.595 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138660455 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 missense_variant 3.418476 0.98415 0.87227 0.553676 0.780598900972684 0 8.25832618148535e-32 FALSE 0.000955797 ENSE00001213936_015 ENSE00001213936 015 8 139672622 139672791 - 57 45 68 G C 139672708 2450 84 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATGCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660464 138660465 138660465 exon 16 0.355555555555556 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATGCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 206 264 1 0.988567115448474 0.994283557724237 NA NA 0.850275340696591 0.6997132376185 NA NA 0.149724659303409 0.288853877829974 NA 0.774994289157546 NA 0.219289268566691 NA FALSE NA 1 4.808 rs117256395 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 44/65 rs117256395 1 unknown(0) C:0.0020 C:0.0008 C:0 NA C:0 C:0.006 C:0.0031 C:0.0011 C:0.005 GGA G,C 0.003978 8:138660465 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 missense_variant 1.93139 0.9857 0.95421 0.553676 0.98547420195323 0 8.25832618148535e-32 FALSE 0.00390952 ENSE00001213936_018 ENSE00001213936 018 8 139672622 139672791 - 57 45 68 A G 139672721 2453 71 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGCGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660477 138660478 138660478 exon 3 0.0666666666666667 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGCGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 351 64 0.99766712469723 1 0.998833562348615 NA NA 0.850275340696591 0.6997132376185 NA NA 0.147391784000639 0.3002867623815 NA 0.774994289157546 NA 0.223839273191069 NA FALSE NA 0.001 -0.299 . splice_region_variant&synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 44/65 1 NA CAC A,G 4.942e-05 8:138660478 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 splice_region_variant -0.551943 0.13789 0.01537 0.553676 0.225199212295879 0 8.25832618148535e-32 FALSE 7.31368e-05 ENSE00001213936_019 ENSE00001213936 019 8 139672622 139672791 - 57 45 68 G A 139672728 2454 64 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTTTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660484 138660485 138660485 upstr_intron -5 -0.0588235294117647 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTTTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 142 78 0.996170416296765 0.995998726002479 0.996084571149622 NA NA 0.850275340696591 0.6997132376185 NA NA 0.145895075600174 0.296285488383978 NA 0.774994289157546 NA 0.221090281992076 NA FALSE NA 0.002 -0.033 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 43/64 1 NA AGA G,A 8.236e-06 8:138660485 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 splice_region_variant -0.235093 0.1061 0.0239 0.061011 0.41783173980158 0.085777 8.25832618148535e-32 FALSE 4.06306e-06 ENSE00001213936_020 ENSE00001213936 020 8 139672622 139672791 - 57 45 68 A C 139672731 2455 61 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTGCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660487 138660488 138660488 upstr_intron -8 -0.102941176470588 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTGCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 35 57 1 1 1 NA NA 0.850275340696591 0.6997132376185 NA NA 0.149724659303409 0.3002867623815 NA 0.774994289157546 NA 0.225005710842454 NA FALSE NA 0.011 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138660488 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 splice_region_variant -0.651831 0.19381 0.04388 0.061011 0.530971453793637 0.0886903 8.25832618148535e-32 FALSE 4.06336e-06 ENSE00001213936_021 ENSE00001213936 021 8 139672622 139672791 - 57 45 68 A T 139672731 2456 61 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTACTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660487 138660488 138660488 upstr_intron -8 -0.102941176470588 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTACTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 74 184 1 0.959215150534664 0.979607575267332 NA NA 0.850275340696591 0.6997132376185 NA NA 0.149724659303409 0.259501912916164 NA 0.774994289157546 NA 0.204613286109786 NA FALSE NA 0.011 0.064 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003602830 splice_region_variant -0.570724 0.19177 0.03659 0.061011 0.482637920420335 0.0886903 8.25832618148535e-32 FALSE NA ENSE00001213936_022 ENSE00001213936 022 8 139672622 139672791 - 57 45 68 A T 139672740 2457 52 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTAATTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660496 138660497 138660497 upstr_intron -17 -0.235294117647059 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTAATTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 777 26 0.99829270195065 1 0.999146350975325 NA NA 0.850275340696591 0.6997132376185 NA NA 0.148017361254059 0.3002867623815 NA 0.774994289157546 NA 0.224152061817779 NA FALSE NA 0 0.273 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 43/64 rs370099435 1 NA T:0 T:0.0001 AAT A,T 6.589e-05 8:138660497 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 intron_variant -0.301794 0.16447 0.03239 0.061011 0.556561818606474 0.0431032 8.25832618148535e-32 FALSE 3.25084e-05 ENSE00001213936_023 ENSE00001213936 023 8 139672622 139672791 - 57 45 68 A C 139672744 2458 48 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTGTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660500 138660501 138660501 upstr_intron -21 -0.294117647058824 GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTGTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 329 1223 1 0.999870663416961 0.999935331708481 NA NA 0.850275340696591 0.6997132376185 NA NA 0.149724659303409 0.300157425798461 NA 0.774994289157546 NA 0.224941042550935 NA FALSE NA 0 -0.457 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 43/64 rs372949305 1 NA C:0 C:0.0001 AAA A,C 2.471e-05 8:138660501 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 intron_variant 0.199982 0.35067 0.11369 0.061011 0.697738911443283 0.562201 8.25832618148535e-32 FALSE 4.46976e-05 ENSE00001213936_025 ENSE00001213936 025 8 139672622 139672791 - 57 45 68 C T 139672766 2460 26 GGTGTGGGTAGAGTGGGTCAGGATCATGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA 138660378 138660548 138660522 138660523 138660523 upstr_intron -43 -0.617647058823529 GGTGTGGGTAGAGTGGGTCAGGATCATGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA GGTGTGGGTAGAGTGGGTCAGGATCGTGTGCTTATCACAGTTAATGTTTTATTTCCTTCTTCTCTTAGGGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCGGTATGTCATCTTATGGTTCTGGATGAATATTGACTATCAGTCAGGGCGTAAGCAAGA mutant NA NA NA NA NA 176 267 0.993516669321868 0.99246725978926 0.992991964555564 NA NA 0.850275340696591 0.6997132376185 NA NA 0.143241328625277 0.29275402217076 NA 0.774994289157546 NA 0.217997675398018 NA FALSE NA 0 -2.817 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 43/64 1 NA ACG C,T 1.647e-05 8:138660523 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003602830 intron_variant -0.134952 0.05391 0.00344 0.061011 0.576834444769797 0.0752763 8.25832618148535e-32 FALSE 2.0402e-05 ENSE00001213941_000 ENSE00001213941 000 8 139674220 139674389 - 53 54 63 NA NA NA NA NA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 NA NA NA NA NA NA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA natural 16 16 0.85 0.85 0.85 233 207 0.94767410136101 0.94528846026137 0.94648128081119 0.85 0.85 0.94767410136101 0.94528846026137 0 0 0 0 0.85 0.94648128081119 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003679687 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001213941_001 ENSE00001213941 001 8 139674220 139674389 - 53 54 63 T C 139674230 2461 160 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACGTGACCCCTGA 138661976 138662146 138661986 138661987 138661987 downstr_intron 43 1.82692307692308 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACGTGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 736 629 0.957551320100037 0.974902367870966 0.966226843985501 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.00987721873902736 0.0296139076095951 0.85 0.94648128081119 NA 0.0197455631743113 NA FALSE NA 0 -2.472 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 43/64 rs370826271 1 NA C:0.0002 C:0 ATG T,C 1.647e-05 8:138661987 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 intron_variant -0.133558 0.09776 0.00492 0.061011 0.265497420648609 0.0832456 8.25832618148535e-32 FALSE 2.23312e-05 ENSE00001213941_002 ENSE00001213941 002 8 139674220 139674389 - 53 54 63 T A 139674245 2462 145 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCTGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662001 138662002 138662002 downstr_intron 28 1.53846153846154 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCTGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 278 33 1 0.875841497233534 0.937920748616767 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.0523258986389904 -0.0694469630278362 0.85 0.94648128081119 NA -0.00856053219442288 NA FALSE NA 0 -0.646 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 43/64 1 NA CTG T,A 8.237e-06 8:138662002 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 intron_variant 0.545147 0.10926 0.03316 0.061011 0.724834824080465 0.0832456 8.25832618148535e-32 FALSE 4.24221e-06 ENSE00001213941_004 ENSE00001213941 004 8 139674220 139674389 - 53 54 63 C T 139674253 2464 137 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCATGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662009 138662010 138662010 downstr_intron 20 1.38461538461538 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCATGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 31 16 1 1 1 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.0523258986389904 0.0547115397386296 0.85 0.94648128081119 NA 0.05351871918881 NA FALSE NA 0 -4.468 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 43/64 rs375000959 1 NA T:0 T:0.0001 ACG C,T 4.942e-05 8:138662010 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 intron_variant -0.150644 0.08488 0.00273 0.061011 0.479634249154377 0.0832456 8.25832618148535e-32 FALSE 5.81289e-05 ENSE00001213941_008 ENSE00001213941 008 8 139674220 139674389 - 53 54 63 C T 139674277 2468 113 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCAGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662033 138662034 138662034 exon -5 0.925925925925926 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCAGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 202 321 1 0.983948363751342 0.991974181875671 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.0523258986389904 0.0386599034899715 0.85 0.94648128081119 NA 0.045492901064481 NA FALSE NA 1 1.677 rs146190475 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 43/65 rs146190475&COSM3645629 1 unknown(0) NA T:0.0007 T:0 CCG C,T 6.589e-05 8:138662034 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 missense_variant 2.072087 0.9022 0.02866 0.487112 0.90374548129709 0 8.25832618148535e-32 FALSE 8.20149e-05 ENSE00001213941_012 ENSE00001213941 012 8 139674220 139674389 - 53 54 63 G A 139674296 2472 94 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCTCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662052 138662053 138662053 exon -24 0.574074074074074 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCTCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 597 29 0.950938490179659 0.864304244907642 0.90762136754365 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.00326438881864899 -0.0809842153537281 0.85 0.94648128081119 NA -0.0388599132675396 NA FALSE NA 1 4.82 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 43/65 1 unknown(0) NA GGG G,A 8.236e-06 8:138662053 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 missense_variant 1.332274 0.979 0.90211 0.487112 0.662092366566006 0 8.25832618148535e-32 FALSE 4.09303e-06 ENSE00001213941_013 ENSE00001213941 013 8 139674220 139674389 - 53 54 63 C G 139674307 2473 83 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGCATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662063 138662064 138662064 exon 20 0.37037037037037 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGCATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 30 17 1 0.95 0.975 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.0523258986389904 0.00471153973862959 0.85 0.94648128081119 NA 0.02851871918881 NA FALSE NA 0.999 3.805 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 43/65 1 unknown(0) NA TCC C,G 1.647e-05 8:138662064 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 missense_variant 1.401977 0.97952 0.8939 0.553676 0.987560720930938 0 8.25832618148535e-32 FALSE 8.18418e-06 ENSE00001213941_018 ENSE00001213941 018 8 139674220 139674389 - 53 54 63 T C 139674324 2478 66 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGGTCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662080 138662081 138662081 exon 3 0.0555555555555556 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGGTCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 11 1354 0.95 0.892093617947154 0.921046808973577 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.00232589863899035 -0.0531948423142161 0.85 0.94648128081119 NA -0.0254344718376129 NA FALSE NA 1 0.693 . splice_region_variant&synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 43/65 1 NA ATC T,C 1.647e-05 8:138662081 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 splice_region_variant 0.669253 0.96228 0.62346 0.553676 0.748878262689293 0 8.25832618148535e-32 FALSE NA ENSE00001213941_020 ENSE00001213941 020 8 139674220 139674389 - 53 54 63 A G 139674342 2480 48 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCCTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662098 138662099 138662099 upstr_intron -16 -0.238095238095238 AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCCTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 10 202 0.95 0.904994505329013 0.927497252664506 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.00232589863899046 -0.0402939549323574 0.85 0.94648128081119 NA -0.0189840281466835 NA FALSE NA 0.001 1.228 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 42/64 1 NA AAG A,G 8.236e-06 8:138662099 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 intron_variant -0.098994 0.14611 0.02226 0.061011 0.688074211976826 0.0610393 8.25832618148535e-32 FALSE NA ENSE00001213941_023 ENSE00001213941 023 8 139674220 139674389 - 53 54 63 A G 139674363 2483 27 AGGGTGTGTCCTTATTTGCTTAAATACTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662119 138662120 138662120 upstr_intron -37 -0.571428571428571 AGGGTGTGTCCTTATTTGCTTAAATACTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 116 111 0.979567027953061 0.982917382577882 0.981242205265472 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.0318929265920517 0.0376289223165119 0.85 0.94648128081119 NA 0.0347609244542818 NA FALSE NA 0 0.152 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 42/64 1 NA AAT A,G 3.295e-05 8:138662120 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 intron_variant 0.204305 0.14833 0.03426 0.061011 0.535372541992096 0.0458592 8.25832618148535e-32 FALSE 1.70554e-05 ENSE00001213941_025 ENSE00001213941 025 8 139674220 139674389 - 53 54 63 G C 139674371 2485 19 AGGGTGTGTCCTTATTTGGTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA 138661976 138662146 138662127 138662128 138662128 upstr_intron -45 -0.698412698412698 AGGGTGTGTCCTTATTTGGTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA AGGGTGTGTCCTTATTTGCTTAAATATTGTAGGGTGTCAGTGTCTTCTTTTCTTTTTCTTCAGGGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGACGTAAGTACAGAGAAATGGCGTGGACTCAGTGAAGGCCCTTACATGACCCCTGA mutant NA NA NA NA NA 312 109 0.995974470476189 0.999650089622612 0.9978122800494 0.85 0.85 0.94767410136101 0.94528846026137 NA NA 0.0483003691151791 0.0543616293612417 0.85 0.94648128081119 NA 0.0513309992382104 NA FALSE NA 0.004 1.018 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 42/64 1 NA AGC G,C 8.238e-06 8:138662128 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003679687 intron_variant -0.100141 0.17754 0.10091 0.061011 0.526130392519641 0.0582875 8.25832618148535e-32 FALSE 4.31425e-06 ENSE00001213948_000 ENSE00001213948 000 8 139688760 139688929 - 41 78 51 NA NA NA NA NA CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA 138676516 138676686 NA NA NA NA NA NA CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA natural NA NA NA NA NA 516 1011 0.894233204323174 0.985516175499778 0.939874689911476 NA NA 0.894233204323174 0.985516175499778 NA NA 0 0 NA 0.939874689911476 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003664260 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001213948_009 ENSE00001213948 009 8 139688760 139688929 - 41 78 51 G C 139688836 2494 94 CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCGGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA 138676516 138676686 138676592 138676593 138676593 exon -36 0.551282051282051 CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCGGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA mutant NA NA NA NA NA 69 106 1 0.984779591629296 0.992389795814648 NA NA 0.894233204323174 0.985516175499778 NA NA 0.105766795676826 -0.000736583870482255 NA 0.939874689911476 NA 0.0525151059031719 NA FALSE NA 0.916 3.015 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138676593 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003664260 missense_variant 3.256259 0.96833 0.77533 0.554377 0.991629225543399 0 8.25832618148535e-32 FALSE 5.75275e-06 ENSE00001213948_011 ENSE00001213948 011 8 139688760 139688929 - 41 78 51 C G 139688879 2496 51 CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTACGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA 138676516 138676686 138676635 138676636 138676636 upstr_intron -1 0 CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTACGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA mutant NA NA NA NA NA 476 90 0 0 0 NA NA 0.894233204323174 0.985516175499778 NA NA -0.894233204323174 -0.985516175499778 NA 0.939874689911476 NA -0.939874689911476 NA TRUE NA 1 3.777 . splice_acceptor_variant HIGH COL22A1 HGNC 22989 ENST00000303045 40/64 1 NA HC CCT C,G 8.844e-06 8:138676636 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003664260 splice_acceptor_variant 4.832653 0.98096 0.8928 0.053691 0.993729436223558 0.975009 8.25832618148535e-32 FALSE 6.30183e-06 ENSE00001213948_012 ENSE00001213948 012 8 139688760 139688929 - 41 78 51 A G 139688881 2497 49 CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCCAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA 138676516 138676686 138676637 138676638 138676638 upstr_intron -3 -0.0392156862745098 CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCCAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA mutant NA NA NA NA NA 75 900 0.973113391891509 0.992594185828222 0.982853788859865 NA NA 0.894233204323174 0.985516175499778 NA NA 0.0788801875683348 0.00707801032844413 NA 0.939874689911476 NA 0.0429790989483895 NA FALSE NA 0.263 0.177 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 40/64 1 NA TAG A,G 3.567e-05 8:138676638 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003664260 splice_region_variant 1.438586 0.93963 0.04094 0.053691 0.811499571052843 0.464719 8.25832618148535e-32 FALSE NA ENSE00001213948_013 ENSE00001213948 013 8 139688760 139688929 - 41 78 51 G A 139688886 2498 44 CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTTTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA 138676516 138676686 138676642 138676643 138676643 upstr_intron -8 -0.137254901960784 CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTTTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA CCTCTCCTTCCTGGCACTGACCTCCTTGATCTTATTTTTCTCTCTTTCTAGGGGGATCGAGGAGCTCCTGGGATCCCTGGTTCTCCTGGCAGCCGTGGTGACCCAGGCATTGGGGTTGCTGGCCCTCCTGTAAGTCTTTATTTATCCAGCTCTTACTTGCTTTCAGGACA mutant NA NA NA NA NA 385 99 1 1 1 NA NA 0.894233204323174 0.985516175499778 NA NA 0.105766795676826 0.0144838245002219 NA 0.939874689911476 NA 0.060125310088524 NA FALSE NA 0.217 0.897 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 40/64 rs200207337 1 A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 AGA G,A 3.575e-05 8:138676643 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003664260 splice_region_variant 1.435241 0.888 0.12178 0.053691 0.740713578920592 0.447596 8.25832618148535e-32 FALSE 0.000167127 ENSE00001213958_000 ENSE00001213958 000 8 139696611 139696780 - 57 45 68 NA NA NA NA NA GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 NA NA NA NA NA NA GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG natural 173 127 0.99632542780147 0.996668758673662 0.996497093237566 2318 1845 0.855095670754602 0.735686811084868 0.795391240919735 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 0 0 0 0 0.996497093237566 0.795391240919735 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003628956 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001213958_001 ENSE00001213958 001 8 139696611 139696780 - 57 45 68 C T 139696625 2500 156 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCATTTGAAAGAGAACG 138684367 138684537 138684381 138684382 138684382 downstr_intron 43 1.76785714285714 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCATTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 1268 2255 0.986534836219044 0.99581357147375 0.991174203846397 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.131439165464442 0.260126760388882 0.996497093237566 0.795391240919735 NA 0.195782962926662 NA FALSE NA 0 -0.501 rs115271692 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 39/64 rs115271692 1 T:0.0020 T:0.0038 T:0.0029 NA T:0 T:0.003 T:0 T:0.0059 T:0 ACG C,T 0.0006754 8:138684382 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant -0.459694 0.05082 0.00756 0.053691 0.657771056173983 0.0431032 8.25832618148535e-32 FALSE 0.000759662 ENSE00001213958_002 ENSE00001213958 002 8 139696611 139696780 - 57 45 68 G A 139696626 2501 155 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCTGTTTGAAAGAGAACG 138684367 138684537 138684382 138684383 138684383 downstr_intron 42 1.75 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCTGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 131 278 0.984515980657004 0.972338386526861 0.978427183591933 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.129420309902402 0.236651575441993 0.996497093237566 0.795391240919735 NA 0.183035942672198 NA FALSE NA 0 -0.892 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 39/64 1 NA CGG G,A 8.236e-06 8:138684383 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant -0.70175 0.03349 0.00793 0.053691 0.590259412141716 0.0436289 8.25832618148535e-32 FALSE NA ENSE00001213958_004 ENSE00001213958 004 8 139696611 139696780 - 57 45 68 G A 139696634 2503 147 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCATGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684390 138684391 138684391 downstr_intron 34 1.60714285714286 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCATGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 314 101 0.999511618824437 1 0.999755809412218 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144415948069835 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.204364568492483 NA FALSE NA 0 -1.414 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 39/64 1 NA CGT G,A 8.236e-06 8:138684391 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant -0.429257 0.05855 0.00035 0.053691 0.704311912588759 0.0436289 8.25832618148535e-32 FALSE 4.06213e-06 ENSE00001213958_008 ENSE00001213958 008 8 139696611 139696780 - 57 45 68 C A 139696661 2507 120 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTTCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684417 138684418 138684418 downstr_intron 7 1.125 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTTCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 168 35 1 0.8 0.9 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.0643131889151318 0.996497093237566 0.795391240919735 NA 0.104608759080265 NA FALSE NA 0 -0.731 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 39/64 1 NA GCA C,A 8.236e-06 8:138684418 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 splice_region_variant 0.129696 0.08404 0.0113 0.053691 0.355866289511543 0.0870774 8.25832618148535e-32 FALSE 1.625e-05 ENSE00001213958_009 ENSE00001213958 009 8 139696611 139696780 - 57 45 68 T C 139696664 2508 117 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGGGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684420 138684421 138684421 downstr_intron 4 1.07142857142857 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGGGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 273 997 1 0.99801723395406 0.99900861697703 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.262330422869191 0.996497093237566 0.795391240919735 NA 0.203617376057295 NA FALSE NA 0.004 -0.063 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 39/64 1 NA CTC T,C 8.236e-06 8:138684421 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 splice_region_variant -0.196911 0.36834 0.03619 0.053691 0.395444957721879 0.0890305 8.25832618148535e-32 FALSE 4.0626e-06 ENSE00001213958_010 ENSE00001213958 010 8 139696611 139696780 - 57 45 68 C A 139696665 2509 116 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTTAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684421 138684422 138684422 downstr_intron 3 1.05357142857143 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTTAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 89 97 0.999536682842684 1 0.999768341421342 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144441012088082 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.204377100501607 NA FALSE NA 0.003 -1.169 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 39/64 1 NA TCA C,A 8.236e-06 8:138684422 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 splice_region_variant 0.126696 0.3881 0.02677 0.053691 0.501887385573761 0.0999854 8.25832618148535e-32 FALSE 4.06253e-06 ENSE00001213958_011 ENSE00001213958 011 8 139696611 139696780 - 57 45 68 C G 139696676 2510 105 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTACGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684432 138684433 138684433 exon -9 0.822222222222222 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTACGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 1183 1567 0.998441909038219 0.996247184081747 0.997344546559983 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.143346238283617 0.260560372996879 0.996497093237566 0.795391240919735 NA 0.201953305640248 NA FALSE NA 0.982 3.285 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 39/65 1 unknown(0) NA CCT C,G 8.236e-06 8:138684433 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 missense_variant 1.907984 0.92732 0.86092 0.615465 0.985411939889561 0 8.25832618148535e-32 FALSE 8.12605e-06 ENSE00001213958_012 ENSE00001213958 012 8 139696611 139696780 - 57 45 68 G T 139696681 2511 100 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACACCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684437 138684438 138684438 exon -14 0.711111111111111 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACACCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 12 62 1 1 1 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.204608759080265 NA FALSE NA 0.628 2.685 rs113740864 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 39/65 rs113740864 1 unknown(0) NA T:0.0005 T:0 GGG G,T 1.647e-05 8:138684438 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 missense_variant 1.34178 0.82508 0.61136 0.615465 0.961740040243894 0 8.25832618148535e-32 FALSE 4.06319e-06 ENSE00001213958_013 ENSE00001213958 013 8 139696611 139696780 - 57 45 68 T C 139696698 2512 83 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCGCCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684454 138684455 138684455 exon 15 0.333333333333333 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCGCCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 130 110 1 1 1 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.204608759080265 NA FALSE NA 0.908 -0.047 rs144591985 synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 39/65 1 NA GTG T,C 2.471e-05 8:138684455 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 synonymous_variant -0.047606 0.92496 0.34007 0.615465 0.506926437696546 0 8.25832618148535e-32 FALSE 8.1285e-06 ENSE00001213958_014 ENSE00001213958 014 8 139696611 139696780 - 57 45 68 C T 139696705 2513 76 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCATGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684461 138684462 138684462 exon 8 0.177777777777778 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCATGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 316 196 0.988633992812011 1 0.994316996406005 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.133538322057409 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.19892575548627 NA FALSE NA 0.966 0.366 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138684462 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 missense_variant 3.688596 0.96053 0.59473 0.615465 0.985859442600345 0 8.25832618148535e-32 FALSE 8.94323e-05 ENSE00001213958_016 ENSE00001213958 016 8 139696611 139696780 - 57 45 68 G A 139696706 2515 75 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCTGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684462 138684463 138684463 exon 7 0.155555555555556 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCTGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 49 288 1 0.999450463317323 0.999725231658661 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.263763652232455 0.996497093237566 0.795391240919735 NA 0.204333990738926 NA FALSE NA 0.968 4.155 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138684463 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 missense_variant 3.839179 0.97249 0.87376 0.615465 0.990394571608966 0 8.25832618148535e-32 FALSE 3.25349e-05 ENSE00001213958_017 ENSE00001213958 017 8 139696611 139696780 - 57 45 68 G T 139696706 2516 75 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCAGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684462 138684463 138684463 exon 7 0.155555555555556 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCAGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 724 104 0.997180061891442 0.959969306467006 0.978574684179224 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.14208439113684 0.224282495382137 0.996497093237566 0.795391240919735 NA 0.183183443259489 NA FALSE NA 0.968 4.155 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003628956 missense_variant 3.154849 0.97374 0.89071 0.615465 0.419159490556555 0 8.25832618148535e-32 FALSE 8.13372e-06 ENSE00001213958_018 ENSE00001213958 018 8 139696611 139696780 - 57 45 68 G A 139696709 2517 72 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGATTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684465 138684466 138684466 exon 4 0.0888888888888889 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGATTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 104 995 1 0.998138087735048 0.999069043867524 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.26245127665018 0.996497093237566 0.795391240919735 NA 0.203677802947789 NA FALSE NA 0.733 2.7 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 39/65 1 unknown(0) NA AGT G,A 8.236e-06 8:138684466 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 missense_variant 2.089152 0.94659 0.71981 0.554377 0.991736328940467 0 8.25832618148535e-32 FALSE NA ENSE00001213958_019 ENSE00001213958 019 8 139696611 139696780 - 57 45 68 C T 139696711 2518 70 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGAACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684467 138684468 138684468 exon 2 0.0444444444444444 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGAACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 162 147 1 1 1 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.204608759080265 NA FALSE NA 0.995 3.285 . missense_variant&splice_region_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 39/65 COSM749063 1 unknown(0) NA TCC C,T 5.765e-05 8:138684468 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 missense_variant 2.614138 0.97599 0.87845 0.554377 0.987471799076333 0 8.25832618148535e-32 FALSE 5.69397e-05 ENSE00001213958_020 ENSE00001213958 020 8 139696611 139696780 - 57 45 68 G A 139696716 2519 65 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTTCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684472 138684473 138684473 upstr_intron -4 -0.0441176470588235 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTTCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 344 637 0.985536164365143 0.989681735723101 0.987608950044122 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.130440493610541 0.253994924638232 0.996497093237566 0.795391240919735 NA 0.192217709124387 NA FALSE NA 0.356 0.315 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 38/64 1 NA GGA G,A 8.236e-06 8:138684473 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 splice_region_variant 0.396078 0.31674 0.07445 0.053691 0.630604213019707 0.0877453 8.25832618148535e-32 FALSE 4.06941e-06 ENSE00001213958_021 ENSE00001213958 021 8 139696611 139696780 - 57 45 68 T C 139696726 2520 55 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTGTTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684482 138684483 138684483 upstr_intron -14 -0.191176470588235 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTGTTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 19 265 1 0.999402729990819 0.99970136499541 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.263715918905951 0.996497093237566 0.795391240919735 NA 0.204310124075675 NA FALSE NA 0 -2.293 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 38/64 rs367714822 1 NA C:0.0009 C:0 ATA T,C 4.942e-05 8:138684483 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant -0.210877 0.07154 0.00247 0.053691 0.637937398823704 0.0414318 8.25832618148535e-32 FALSE 5.29484e-05 ENSE00001213958_022 ENSE00001213958 022 8 139696611 139696780 - 57 45 68 A C 139696733 2521 48 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCGTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684489 138684490 138684490 upstr_intron -21 -0.294117647058824 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCGTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 23 312 1 1 1 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.204608759080265 NA FALSE NA 0 0.111 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 38/64 rs576651688 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 AAG A,C 0.0001894 8:138684490 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant -0.150149 0.12649 0.02603 0.053691 0.626974133091925 0.0414318 8.25832618148535e-32 FALSE 0.000142649 ENSE00001213958_023 ENSE00001213958 023 8 139696611 139696780 - 57 45 68 G A 139696747 2522 34 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGTTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684503 138684504 138684504 upstr_intron -35 -0.5 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGTTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 719 17 0.99700259160663 0.8 0.898501295803315 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.141906920852028 0.0643131889151318 0.996497093237566 0.795391240919735 NA 0.10311005488358 NA FALSE NA 0 -1.683 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 38/64 1 NA AGC G,A 1.647e-05 8:138684504 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant -0.010094 0.06427 0.00049 0.053691 0.650349995015454 0.0436289 8.25832618148535e-32 FALSE 1.22585e-05 ENSE00001213958_024 ENSE00001213958 024 8 139696611 139696780 - 57 45 68 C T 139696748 2523 33 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAACTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684504 138684505 138684505 upstr_intron -36 -0.514705882352941 GCACGTGGTGGATGGGTCAGTGTTCACTCTCAACTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 663 13 1 1 1 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.144904329245398 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.204608759080265 NA FALSE NA 0 -0.312 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 38/64 1 NA GCT C,T 8.237e-06 8:138684505 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant 0.195416 0.1222 0.02937 0.053691 0.679251311146533 0.0436289 8.25832618148535e-32 FALSE 4.08624e-06 ENSE00001213958_026 ENSE00001213958 026 8 139696611 139696780 - 57 45 68 G C 139696754 2525 27 GCACGTGGTGGATGGGTCAGTGTTCAGTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684510 138684511 138684511 upstr_intron -42 -0.602941176470588 GCACGTGGTGGATGGGTCAGTGTTCAGTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 170 111 0.992245384109964 1 0.996122692054982 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.137149713355362 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.200731451135247 NA FALSE NA 0 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138684511 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant -0.224192 0.12109 0.08146 0.053691 0.300902316629356 0.0436289 8.25832618148535e-32 FALSE 2.86343e-05 ENSE00001213958_027 ENSE00001213958 027 8 139696611 139696780 - 57 45 68 C T 139696759 2526 22 GCACGTGGTGGATGGGTCAGTATTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684515 138684516 138684516 upstr_intron -47 -0.676470588235294 GCACGTGGTGGATGGGTCAGTATTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 118 1063 0.84408964718176 0.997928682819582 0.921009165000671 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA -0.0110060235728423 0.262241871734713 0.996497093237566 0.795391240919735 NA 0.125617924080936 NA FALSE NA 0 0.288 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138684516 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003628956 intron_variant 0.208187 0.11574 0.04134 0.053691 0.587080701767186 0.0436289 8.25832618148535e-32 FALSE 4.09447e-06 ENSE00001213958_028 ENSE00001213958 028 8 139696611 139696780 - 57 45 68 C A 139696759 2527 22 GCACGTGGTGGATGGGTCAGTTTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 138684515 138684516 138684516 upstr_intron -47 -0.676470588235294 GCACGTGGTGGATGGGTCAGTTTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG mutant NA NA NA NA NA 250 317 0.991237145207278 1 0.995618572603639 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 NA NA 0.136141474452676 0.264313188915132 0.996497093237566 0.795391240919735 NA 0.200227331683904 NA FALSE NA 0 0.288 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003628956 intron_variant 0.2529 0.13081 0.07992 0.053691 0.588473978597333 0.0436289 8.25832618148535e-32 FALSE 4.09447e-06 ENSE00001213958_BRK ENSE00001213958 BRK 8 139696611 139696780 - 57 45 68 A,G; T,T NA NA NA GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCTTGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGCCGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG 138684367 138684537 NA NA NA NA NA NA GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCTTGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGCCGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG GCACGTGGTGGATGGGTCAGTGTTCACTCTCAGCTCCATGATTGTCCTTGTATTATTTATTTCTCCAGGGACTCCGTGGATCACCTGGACTCCCTGGACCCCTAGGAACCAAGGTGAGTGCTTGTCCAAGAAAACTGTGGGTGCCACGAGTTGCCGTTTGAAAGAGAACG control 261 515 0 0 0 64 818 0 0.0550449860638178 0.0275224930319089 0.99632542780147 0.996668758673662 0.855095670754602 0.735686811084868 -0.99632542780147 -0.996668758673662 -0.855095670754602 -0.68064182502105 0.996497093237566 0.795391240919735 -0.996497093237566 -0.767868747887826 0.22862834534974 TRUE TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003628956 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001213970_000 ENSE00001213970 000 8 139701107 139701276 - 53 54 63 NA NA NA NA NA TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 NA NA NA NA NA NA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA natural 186 171 0.860966218336059 0.792446664059173 0.826706441197616 600 536 0.763986509093387 0.85024201022058 0.807114259656984 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 0 0 0 0 0.826706441197616 0.807114259656984 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003676265 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001213970_001 ENSE00001213970 001 8 139701107 139701276 - 53 54 63 G A 139701121 2528 156 TGTAAGAAGTTAAGAATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688877 138688878 138688878 downstr_intron 39 1.75 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATTCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 401 476 0.832636246152257 0.821350038959251 0.826993142555754 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.0686497370588697 -0.0288919712613293 0.826706441197616 0.807114259656984 NA 0.0198788828987702 NA FALSE NA 0 -0.051 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 37/64 rs372253853 1 NA A:0 A:0.0005 GGA G,A 0.0002306 8:138688878 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant 0.063626 0.06441 0.00021 0.053691 0.614671816179819 0.0500165 8.25832618148535e-32 FALSE 0.000317267 ENSE00001213970_002 ENSE00001213970 002 8 139701107 139701276 - 53 54 63 T C 139701130 2529 147 TGTAAGAAGTTAAGGATATTCACCTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688886 138688887 138688887 downstr_intron 30 1.57692307692308 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAGGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 351 899 0.885569903228074 0.868155038877445 0.87686247105276 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.121583394134687 0.0179130286568655 0.826706441197616 0.807114259656984 NA 0.0697482113957762 NA FALSE NA 0 -1.243 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 37/64 1 NA CTT T,C 8.236e-06 8:138688887 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant -0.42653 0.05183 0.00212 0.053691 0.2287143942966 0.0497025 8.25832618148535e-32 FALSE 4.06471e-06 ENSE00001213970_003 ENSE00001213970 003 8 139701107 139701276 - 53 54 63 G A 139701132 2530 145 TGTAAGAAGTTAAGGATATTCACTTATGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688888 138688889 138688889 downstr_intron 28 1.53846153846154 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACATAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 452 241 0.843932644136247 0.922754459529629 0.883343551832938 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.0799461350428592 0.0725124493090488 0.826706441197616 0.807114259656984 NA 0.076229292175954 NA FALSE NA 0 -0.048 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 37/64 1 NA TGT G,A 4.942e-05 8:138688889 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant 0.173878 0.12028 0.00267 0.053691 0.801173920429163 0.0497025 8.25832618148535e-32 FALSE 2.43863e-05 ENSE00001213970_004 ENSE00001213970 004 8 139701107 139701276 - 53 54 63 T A 139701133 2531 144 TGTAAGAAGTTAAGGATATTCACTTGAGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688889 138688890 138688890 downstr_intron 27 1.51923076923077 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACTCAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 337 17 0.803341868228569 0.95 0.876670934114284 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.0393553591351813 0.0997579897794201 0.826706441197616 0.807114259656984 NA 0.0695566744573007 NA FALSE NA 0 -0.336 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 37/64 1 NA GTG T,A 8.236e-06 8:138688890 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant 0.492939 0.09468 0.02757 0.053691 0.817876457697606 0.0497025 8.25832618148535e-32 FALSE 4.06425e-06 ENSE00001213970_005 ENSE00001213970 005 8 139701107 139701276 - 53 54 63 G A 139701139 2532 138 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTAAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688895 138688896 138688896 downstr_intron 21 1.40384615384615 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTTAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 297 491 0.915531042477552 0.810319441002512 0.862925241740032 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.151544533384165 -0.0399225692180676 0.826706441197616 0.807114259656984 NA 0.0558109820830486 NA FALSE NA 0 0.054 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 37/64 rs373943445 1 NA A:0.0002 A:0 TGA G,A 1.647e-05 8:138688896 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant -0.059544 0.09139 0.0137 0.053691 0.714458794975991 0.0497025 8.25832618148535e-32 FALSE 8.12803e-06 ENSE00001213970_006 ENSE00001213970 006 8 139701107 139701276 - 53 54 63 A G 139701147 2533 130 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCGTATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688903 138688904 138688904 downstr_intron 13 1.25 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATACGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 2128 2123 0.810592685616927 0.792521118656965 0.801556902136946 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.0466061765235397 -0.0577208915636147 0.826706441197616 0.807114259656984 NA -0.0055573575200375 NA FALSE NA 0 -0.87 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 37/64 1 NA CAT A,G 8.236e-06 8:138688904 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant -0.298043 0.04666 0.00049 0.053691 0.257866116747664 0.0497025 8.25832618148535e-32 FALSE 4.06266e-06 ENSE00001213970_007 ENSE00001213970 007 8 139701107 139701276 - 53 54 63 T G 139701150 2534 127 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATAGTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688906 138688907 138688907 downstr_intron 10 1.19230769230769 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCACTATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 45 2517 0.826899082702451 0.86199530291731 0.844447192809881 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.0629125736090641 0.01175329269673 0.826706441197616 0.807114259656984 NA 0.037332933152897 NA FALSE NA 0 -1.672 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 37/64 1 NA ATT T,G 8.236e-06 8:138688907 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant 0.048237 0.11832 0.02441 0.053691 0.448187126878208 0.0497025 8.25832618148535e-32 FALSE 4.0626e-06 ENSE00001213970_008 ENSE00001213970 008 8 139701107 139701276 - 53 54 63 C T 139701170 2535 107 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCATGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688926 138688927 138688927 exon -11 0.814814814814815 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCATGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 19 1602 0.8 0.800157852774789 0.800078926387394 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.0360134909066127 -0.050084157445791 0.826706441197616 0.807114259656984 NA -0.00703533326958916 NA FALSE NA 0.906 1.185 rs145129003 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 37/65 rs145129003 1 unknown(0) T:0.0004 T:0 T:0.0029 NA T:0 T:0 T:0 T:0.0002 T:0 ACG C,T 3.295e-05 8:138688927 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 missense_variant 3.863144 0.91001 0.60527 0.615465 0.993115076189543 0 8.25832618148535e-32 FALSE 0.000174676 ENSE00001213970_011 ENSE00001213970 011 8 139701107 139701276 - 53 54 63 A G 139701178 2538 99 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCGTCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688934 138688935 138688935 exon -19 0.666666666666667 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGACGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 365 361 0.997262180865132 0.999561652911174 0.998411916888153 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.233275671771745 0.149319642690595 0.826706441197616 0.807114259656984 NA 0.19129765723117 NA FALSE NA 0.011 -1.112 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 37/65 COSM3834113 1 NA CAT A,G 8.236e-06 8:138688935 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 synonymous_variant 0.198095 0.92262 0.06491 0.615465 0.624322365952194 0 8.25832618148535e-32 FALSE 4.0619e-06 ENSE00001213970_012 ENSE00001213970 012 8 139701107 139701276 - 53 54 63 T C 139701181 2539 96 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCCTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688937 138688938 138688938 exon -22 0.611111111111111 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAGGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 371 76 0.922532789509674 0.939508383132776 0.931020586321225 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.158546280416286 0.0892663729121965 0.826706441197616 0.807114259656984 NA 0.123906326664241 NA FALSE NA 0.998 1.286 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 37/65 1 NA CTT T,C 8.236e-06 8:138688938 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 synonymous_variant -0.242891 0.94776 0.70149 0.615465 0.673629573211547 0 8.25832618148535e-32 FALSE 4.06217e-06 ENSE00001213970_016 ENSE00001213970 016 8 139701107 139701276 - 53 54 63 G A 139701205 2543 72 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCAGGAGCACCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688961 138688962 138688962 exon 9 0.166666666666667 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCTGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 204 155 0.444727579528049 0.314992002640416 0.379859791084232 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA -0.319258929565339 -0.535250007580164 0.826706441197616 0.807114259656984 NA -0.427254468572752 NA FALSE NA 0.935 -0.07 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 37/65 rs575133419 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG A,A 3.295e-05 8:138688962 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 synonymous_variant 0.891113 0.84435 0.00931 0.615465 0.506024045297026 0 8.25832618148535e-32 FALSE 2.84398e-05 ENSE00001213970_018 ENSE00001213970 018 8 139701107 139701276 - 53 54 63 C T 139701212 2545 65 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCATCCTGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688968 138688969 138688969 exon 2 0.037037037037037 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGATGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 189 199 0.909300910186743 0.805812992396523 0.857556951291633 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.145314401093355 -0.0444290178240565 0.826706441197616 0.807114259656984 NA 0.0504426916346494 NA FALSE NA 0.911 3.256 . missense_variant&splice_region_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 37/65 1 unknown(0) NA ACC C,T 1.647e-05 8:138688969 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 missense_variant 1.765962 0.95462 0.91212 0.615465 0.990103339478604 0 8.25832618148535e-32 FALSE 2.0312e-05 ENSE00001213970_020 ENSE00001213970 020 8 139701107 139701276 - 53 54 63 C T 139701232 2547 45 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTATGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688988 138688989 138688989 upstr_intron -19 -0.285714285714286 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCATAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 27 1601 0.8 0.708197357304082 0.754098678652041 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.0360134909066127 -0.142044652916498 0.826706441197616 0.807114259656984 NA -0.0530155810049427 NA FALSE NA 0 -0.156 rs190674514 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 36/64 rs190674514 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0016 T:0.0001 ACG C,T 0.0002224 8:138688989 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant -0.329104 0.04695 0.00011 0.053691 0.413691299661672 0.104647 8.25832618148535e-32 FALSE 0.000195098 ENSE00001213970_021 ENSE00001213970 021 8 139701107 139701276 - 53 54 63 G A 139701233 2548 44 TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTACCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCCTGTGGCAAGGAAGATTACAGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 138688989 138688990 138688990 upstr_intron -20 -0.301587301587302 CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCTGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA mutant NA NA NA NA NA 74 58 0.971256892743289 0.966677929399942 0.968967411071615 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 NA NA 0.207270383649901 0.116435919179362 0.826706441197616 0.807114259656984 NA 0.161853151414632 NA FALSE NA 0 -0.724 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 36/64 1 NA CGG G,A 3.295e-05 8:138688990 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003676265 intron_variant -0.722364 0.06035 0.00701 0.053691 0.490477342815751 0.112681 8.25832618148535e-32 FALSE 2.03199e-05 ENSE00001213970_BRK ENSE00001213970 BRK 8 139701107 139701276 - 53 54 63 A,G; T,T NA NA NA TGTAAGAAGTTAAGGATATTCACTTGTGTGCTGAGAGATCATATTGGTCTTGGCTTCTCACCACGCTCCCCATCTTTCCCTGGGGTGCCTCTGAGGCCGGGAGCACCAAGTGGCAAGGAAGATTACGGACATGGTGAATTTAAAGATGACTGGTCACTCTTGGTGGCTCG 138688863 138689033 NA NA NA NA NA NA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACTTGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGCCAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA CGAGCCACCAAGAGTGACCAGTCATCTTTAAATTCACCATGTCCGTAATCTTCCTTGCCACAGGGTGCTCCCGGCCTCAGAGGCACCCCAGGGAAAGATGGGGAGCGTGGTGAGAAGGTAAGACCAATATGATCTCTCAGCACACAAGTGAATATCCTTAACTTCTTACA control 54 52 0 0 0 36 1090 0 0 0 0.860966218336059 0.792446664059173 0.763986509093387 0.85024201022058 -0.860966218336059 -0.792446664059173 -0.763986509093387 -0.85024201022058 0.826706441197616 0.807114259656984 -0.826706441197616 -0.807114259656984 0.0195921815406324 TRUE TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003676265 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001214852_000 ENSE00001214852 000 15 41501663 41501832 - 36 87 47 NA NA NA NA NA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 NA NA NA NA NA NA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA natural 97 81 0.98770246675057 0.999737833921116 0.993720150335843 8997 9076 0.963281274560346 0.841154550612406 0.902217912586376 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 0 0 0 0 0.993720150335843 0.902217912586376 0 0 0 FALSE FALSE NA NA NA NA NA EXD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXD1 NA NA NA ENSG00000178997 ENSE00001214852 NA NA NA NA NA NA NA 2.0333200373386e-13 FALSE NA ENSE00001214852_001 ENSE00001214852 001 15 41501663 41501832 - 36 87 47 T C 41501694 567 139 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAGAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209495 41209496 41209496 downstr_intron 5 1.14285714285714 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAGAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 16 15 0.99815255797739 0.997514124937515 0.997833341457452 952 470 0.984848992121446 0.996270995016004 0.990559993568725 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 0.0104500912268198 -0.0022237089836018 0.0215677175610993 0.155116444403598 0.993720150335843 0.902217912586376 0.00411319112160902 0.0883420809823485 0.0842288898607395 FALSE FALSE 0.102 0.138 . splice_region_variant&intron_variant LOW EXD1 HGNC 28507 ENST00000458580 7/11 1 NA TTT T,C 8.237e-06 15:41209496 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 splice_region_variant -0.625802 0.15281 0.01233 0.06567 0.395844057957181 0.241429 2.0333200373386e-13 FALSE 4.11855e-06 ENSE00001214852_002 ENSE00001214852 002 15 41501663 41501832 - 36 87 47 A G 41501697 568 136 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGCGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209498 41209499 41209499 downstr_intron 2 1.05714285714286 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGCGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 130 128 0.85 0.85 0.85 NA NA NA NA NA 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 -0.13770246675057 -0.149737833921117 NA NA 0.993720150335843 0.902217912586376 -0.143720150335843 NA NA NA FALSE 0.997 3.946 . splice_donor_variant HIGH EXD1 HGNC 28507 ENST00000458580 7/11 1 NA HC CAC A,G 8.236e-06 15:41209499 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 splice_donor_variant 2.74748 0.96679 0.83608 0.06567 0.944812248755834 0.5279 2.0333200373386e-13 FALSE 4.10263e-06 ENSE00001214852_003 ENSE00001214852 003 15 41501663 41501832 - 36 87 47 G A 41501713 569 120 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAATTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209514 41209515 41209515 exon -15 0.839080459770115 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAATTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant NA NA NA NA NA 254 2092 1 0.948289750844407 0.974144875422204 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 NA NA 0.0367187254396537 0.107135200232001 0.993720150335843 0.902217912586376 NA 0.0719269628358273 NA FALSE NA 1 3.086 . synonymous_variant LOW EXD1 HGNC 28507 ENST00000458580 7/12 1 NA AGT G,A 8.236e-06 15:41209515 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 synonymous_variant 0.412205 0.96474 0.73082 0.487112 0.641539814417551 0 2.0333200373386e-13 FALSE 4.06421e-06 ENSE00001214852_005 ENSE00001214852 005 15 41501663 41501832 - 36 87 47 T C 41501721 571 112 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCGTGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209522 41209523 41209523 exon -23 0.747126436781609 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCGTGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 13 11 0.988063357816443 1 0.994031678908222 855 2023 0.999710846235782 0.998805962674736 0.999258404455259 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 0.000360891065873226 0.000262166078883519 0.0364295716754355 0.15765141206233 0.993720150335843 0.902217912586376 0.000311528572378372 0.0970404918688827 0.0967289632965043 FALSE FALSE 1 4.784 . missense_variant MODERATE EXD1 HGNC 28507 ENST00000458580 7/12 rs201505411 1 deleterious(0) probably_damaging(0.982) NA C:0 C:0.0005 ATG T,C 0.0001812 15:41209523 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 missense_variant 3.706175 0.98284 0.88461 0.487112 0.997235522825014 0 2.0333200373386e-13 FALSE 0.000219419 ENSE00001214852_006 ENSE00001214852 006 15 41501663 41501832 - 36 87 47 C T 41501724 572 109 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCACCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209525 41209526 41209526 exon -26 0.71264367816092 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCACCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 15 13 1 1 1 377 9349 0.994591693817272 0.998646769486131 0.996619231651702 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 0.0122975332494297 0.000262166078883519 0.0313104192569255 0.157492218873725 0.993720150335843 0.902217912586376 0.00627984966415662 0.0944013190653253 0.0881214694011687 FALSE FALSE 1 2.929 . missense_variant MODERATE EXD1 HGNC 28507 ENST00000458580 7/12 COSM961380 1 tolerated(0.06) probably_damaging(0.998) NA GCG C,T 1.647e-05 15:41209526 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 missense_variant 7.355187 0.9858 0.82234 0.487112 0.999396220103569 0 2.0333200373386e-13 FALSE 2.03181e-05 ENSE00001214852_007 ENSE00001214852 007 15 41501663 41501832 - 36 87 47 G A 41501725 573 108 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTTGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209526 41209527 41209527 exon -27 0.701149425287356 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTTGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant NA NA NA NA NA 641 1370 0.999935780635518 0.999017967141756 0.999476873888637 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 NA NA 0.0366545060751716 0.15786341652935 0.993720150335843 0.902217912586376 NA 0.0972589613022607 NA FALSE NA 1 3.994 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:41209527 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 missense_variant 7.057324 0.97667 0.80605 0.487112 0.999238930471999 0 2.0333200373386e-13 FALSE 1.62537e-05 ENSE00001214852_008 ENSE00001214852 008 15 41501663 41501832 - 36 87 47 G C 41501725 574 108 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTGGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209526 41209527 41209527 exon -27 0.701149425287356 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTGGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 30 67 0.85 0.85 0.85 4293 864 0.993443978234323 0.963401022269434 0.978422500251878 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 -0.13770246675057 -0.149737833921117 0.0301627036739762 0.122246471657028 0.993720150335843 0.902217912586376 -0.143720150335843 0.0762045876655023 0.219924738001346 FALSE FALSE 1 3.994 NA NA NA EXD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXD1 NA NA NA ENSG00000178997 ENSE00001214852 missense_variant 6.261879 0.97733 0.83468 0.487112 0.996906816194628 0 2.0333200373386e-13 FALSE 4.06342e-06 ENSE00001214852_009 ENSE00001214852 009 15 41501663 41501832 - 36 87 47 T C 41501729 575 104 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTGTGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209530 41209531 41209531 exon -31 0.655172413793103 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTGTGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 29 23 0.99064619364415 0.998608710679578 0.994627452161864 696 719 0.998152464867988 0.988768216353088 0.993460340610538 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 0.00294372689358002 -0.00112912324153824 0.0348711903076419 0.147613665740682 0.993720150335843 0.902217912586376 0.00090730182602089 0.091242428024162 0.0903351261981411 FALSE FALSE 0.991 -0.095 . synonymous_variant LOW EXD1 HGNC 28507 ENST00000458580 7/12 rs370262959 1 NA C:0 C:0.0001 ATA T,C 0.0001565 15:41209531 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 synonymous_variant 0.290902 0.95457 0.13861 0.487112 0.719212020816285 0 2.0333200373386e-13 FALSE 7.71975e-05 ENSE00001214852_011 ENSE00001214852 011 15 41501663 41501832 - 36 87 47 A G 41501732 577 101 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAACGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209533 41209534 41209534 exon -34 0.620689655172414 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAACGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 26 22 1 1 1 4438 250 0.998694503533199 0.996823676017541 0.99775908977537 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 0.0122975332494297 0.000262166078883519 0.0354132289728527 0.155669125405135 0.993720150335843 0.902217912586376 0.00627984966415662 0.0955411771889937 0.0892613275248371 FALSE FALSE 0.999 0.506 . synonymous_variant LOW EXD1 HGNC 28507 ENST00000458580 7/12 1 NA CAT A,G 8.236e-06 15:41209534 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 synonymous_variant -0.305867 0.96078 0.44708 0.487112 0.587926650512338 0 2.0333200373386e-13 FALSE NA ENSE00001214852_012 ENSE00001214852 012 15 41501663 41501832 - 36 87 47 C T 41501735 578 98 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCAAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209536 41209537 41209537 exon -37 0.586206896551724 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCAAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant NA NA NA NA NA 144 134 1 1 1 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 NA NA 0.0367187254396537 0.158845449387594 0.993720150335843 0.902217912586376 NA 0.0977820874136238 NA FALSE NA 0.98 0.471 rs141309764 synonymous_variant LOW EXD1 HGNC 28507 ENST00000458580 7/12 rs141309764 1 T:0.0010 T:0.003 T:0 NA T:0.001 T:0 T:0 T:0.0014 T:0 TCG C,T 0.0001812 15:41209537 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 synonymous_variant 1.590905 0.88331 0.31776 0.487112 0.65099980902161 0 2.0333200373386e-13 FALSE 0.000117822 ENSE00001214852_013 ENSE00001214852 013 15 41501663 41501832 - 36 87 47 G A 41501748 579 85 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGTAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209549 41209550 41209550 exon 38 0.436781609195402 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGTAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant NA NA NA NA NA 914 1505 0.834302485350718 0.998686064869318 0.916494275110018 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 NA NA -0.128978789209628 0.157531514256912 0.993720150335843 0.902217912586376 NA 0.0142763625236418 NA FALSE NA 0.998 2.327 . missense_variant MODERATE EXD1 HGNC 28507 ENST00000458580 7/12 1 deleterious(0.03) possibly_damaging(0.838) NA TGC G,A 8.236e-06 15:41209550 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 missense_variant 4.786034 0.97529 0.71221 0.487112 0.998879629671121 0 2.0333200373386e-13 FALSE 4.06306e-06 ENSE00001214852_014 ENSE00001214852 014 15 41501663 41501832 - 36 87 47 C T 41501752 580 81 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTATGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209553 41209554 41209554 exon 34 0.390804597701149 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTATGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant NA NA NA NA NA 451 435 1 0.996877967848457 0.998438983924228 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 NA NA 0.0367187254396537 0.155723417236051 0.993720150335843 0.902217912586376 NA 0.0962210713378523 NA FALSE NA 1 2.248 . missense_variant MODERATE EXD1 HGNC 28507 ENST00000458580 7/12 1 deleterious(0.05) probably_damaging(0.955) NA ACA C,T 3.295e-05 15:41209554 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 missense_variant 6.012241 0.97604 0.72655 0.487112 0.998891039695475 0 2.0333200373386e-13 FALSE 4.06283e-05 ENSE00001214852_015 ENSE00001214852 015 15 41501663 41501832 - 36 87 47 C T 41501761 581 72 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATATCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209562 41209563 41209563 exon 25 0.28735632183908 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATATCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant NA NA NA NA NA 153 297 0.992913325700123 0.993359397806187 0.993136361753155 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 NA NA 0.029632051139777 0.152204847193781 0.993720150335843 0.902217912586376 NA 0.0909184491667792 NA FALSE NA 1 4.657 rs188833350 missense_variant MODERATE EXD1 HGNC 28507 ENST00000458580 7/12 rs188833350 1 deleterious(0.03) probably_damaging(1) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACA C,T 1.647e-05 15:41209563 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 missense_variant 5.187065 0.9858 0.89208 0.487112 0.998625207655993 0 2.0333200373386e-13 FALSE 2.84435e-05 ENSE00001214852_016 ENSE00001214852 016 15 41501663 41501832 - 36 87 47 G A 41501774 582 59 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATTAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209575 41209576 41209576 exon 12 0.137931034482759 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATTAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant NA NA NA NA NA 742 1890 0.997095914888501 0.99771343200965 0.997404673449076 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 NA NA 0.0338146403281551 0.156558881397244 0.993720150335843 0.902217912586376 NA 0.0951867608626997 NA FALSE NA 1 2.384 . synonymous_variant LOW EXD1 HGNC 28507 ENST00000458580 7/12 rs531047755 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGA G,A 8.236e-06 15:41209576 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 synonymous_variant 0.977652 0.97145 0.779 0.487112 0.77602756535861 0 2.0333200373386e-13 FALSE 1.21961e-05 ENSE00001214852_017 ENSE00001214852 017 15 41501663 41501832 - 36 87 47 G C 41501780 583 53 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTGCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209581 41209582 41209582 exon 6 0.0689655172413793 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTGCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 35 30 0.941746648644772 0.984230683945618 0.962988666295195 330 396 0.994851960819138 1 0.997425980409569 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 -0.045955818105798 -0.0155071499754986 0.0315706862587919 0.158845449387594 0.993720150335843 0.902217912586376 -0.0307314840406483 0.0952080678231929 0.125939551863841 FALSE FALSE 0.995 0.081 . synonymous_variant LOW EXD1 HGNC 28507 ENST00000458580 7/12 1 NA GGA G,C 1.647e-05 15:41209582 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 synonymous_variant 0.22341 0.94977 0.4226 0.487112 0.665940027974529 0 2.0333200373386e-13 FALSE 8.13584e-06 ENSE00001214852_019 ENSE00001214852 019 15 41501663 41501832 - 36 87 47 T C 41501785 585 48 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGGTACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209586 41209587 41209587 exon 1 0.0114942528735632 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGGTACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 25 27 1 1 1 913 386 0.994381450660917 0.999901346595515 0.997141398628216 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 0.0122975332494297 0.000262166078883519 0.0311001761005707 0.158746795983109 0.993720150335843 0.902217912586376 0.00627984966415662 0.0949234860418396 0.088643636377683 FALSE FALSE 1 2.228 . missense_variant&splice_region_variant MODERATE EXD1 HGNC 28507 ENST00000458580 7/12 1 tolerated(0.47) benign(0.012) NA ATC T,C 8.236e-06 15:41209587 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 missense_variant 1.319821 0.97314 0.65303 0.487112 0.982433070728509 0 2.0333200373386e-13 FALSE 3.26171e-05 ENSE00001214852_020 ENSE00001214852 020 15 41501663 41501832 - 36 87 47 G C 41501793 586 40 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTGTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209594 41209595 41209595 upstr_intron -8 -0.148936170212766 AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTGTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant 15 15 1 1 1 128 1212 1 0.997054111998502 0.998527055999251 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 0.0122975332494297 0.000262166078883519 0.0367187254396537 0.155899561386096 0.993720150335843 0.902217912586376 0.00627984966415662 0.0963091434128748 0.0900292937487182 FALSE FALSE 0.163 0.26 . splice_region_variant&intron_variant LOW EXD1 HGNC 28507 ENST00000458580 6/11 1 NA AGA G,C 8.236e-06 15:41209595 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 splice_region_variant 0.682619 0.25016 0.08026 0.06567 0.523029715133677 0.164134 2.0333200373386e-13 FALSE 4.12062e-06 ENSE00001214852_021 ENSE00001214852 021 15 41501663 41501832 - 36 87 47 G T 41501802 587 31 AACATTTATTCCCTGAAAGTTTTTCCTTTCATTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 41209603 41209604 41209604 upstr_intron -17 -0.340425531914894 AACATTTATTCCCTGAAAGTTTTTCCTTTCATTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA mutant NA NA NA NA NA 983 1320 1 1 1 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 NA NA 0.0367187254396537 0.158845449387594 0.993720150335843 0.902217912586376 NA 0.0977820874136238 NA FALSE NA 0.004 0.096 . intron_variant MODIFIER EXD1 HGNC 28507 ENST00000458580 6/11 1 NA AGG G,T 1.647e-05 15:41209604 EXD1 HGNC Symbol protein_coding 48018 ENSG00000178997 ENSE00001214852 intron_variant 0.473056 0.2315 0.03722 0.06567 0.683848182472805 0.149847 2.0333200373386e-13 FALSE 1.23375e-05 ENSE00001214852_BRK ENSE00001214852 BRK 15 41501663 41501832 - 36 87 47 A,G; T,T NA NA NA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCTTATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGCCGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA 41209464 41209634 NA NA NA NA NA NA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCTTATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGCCGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA AACATTTATTCCCTGAAAGTTTTTCCTTTCCTTCTTTTTCTTACCAGATACTCCATATCAAGAAGCAGAATGTCCTGAGTGTGGCAGCAGAAGGAGCGAATGTATGTCGCCATGGCAAACTGTGCTGGCTGCAGGTGAAAGATTTTTGAAAACTTTTTATTTTGAAGTAA control 221 216 0.029454920712444 0.0646921599221765 0.0470735403173103 97 563 0 0.0123918239180925 0.00619591195904626 0.98770246675057 0.999737833921116 0.963281274560346 0.841154550612406 -0.958247546038126 -0.93504567399894 -0.963281274560346 -0.828762726694314 0.993720150335843 0.902217912586376 -0.946646610018533 -0.89602200062733 0.0506246093912033 TRUE TRUE NA NA NA NA NA EXD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXD1 NA NA NA ENSG00000178997 ENSE00001214852 NA NA NA NA NA NA NA 2.0333200373386e-13 FALSE NA ENSE00001219451_000 ENSE00001219451 000 21 47533865 47534034 + 57 66 47 NA NA NA NA NA TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 NA NA NA NA NA NA TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC natural NA NA NA NA NA 843 1113 0.997078613405219 0.936292059779216 0.966685336592218 NA NA 0.997078613405219 0.936292059779216 NA NA 0 0 NA 0.966685336592218 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A2 NA NA NA ENSG00000142173 ENSE00001219451 NA NA NA NA NA NA NA 0.00213375739441823 FALSE NA ENSE00001219451_002 ENSE00001219451 002 21 47533865 47534034 + 57 66 47 G C 47533876 447 12 TGCCACCTGAGCAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46113961 46113962 46113962 upstr_intron -46 -0.789473684210526 TGCCACCTGAGCAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 177 285 1 1 1 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00292138659478114 0.0637079402207836 NA 0.966685336592218 NA 0.0333146634077824 NA FALSE NA 0 -1.737 NA NA NA COL6A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:46113962 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 non_coding_transcript_exon_variant -0.248182 0.08896 0.01661 0.074636 0.652781489347785 0.0511368 0.00213375739441823 FALSE 4.06755e-06 ENSE00001219451_003 ENSE00001219451 003 21 47533865 47534034 + 57 66 47 T C 47533879 448 15 TGCCACCTGAGGAACGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46113964 46113965 46113965 upstr_intron -43 -0.736842105263158 TGCCACCTGAGGAACGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 847 366 0.996178570308895 0.998847950291197 0.997513260300046 NA NA 0.997078613405219 0.936292059779216 NA NA -0.000900043096323633 0.0625558905119807 NA 0.966685336592218 NA 0.0308279237078286 NA FALSE NA 0 -0.246 . intron_variant MODIFIER COL6A2 HGNC 2212 ENST00000397763 3/26 1 NA ATG T,C 8.237e-06 21:46113965 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 non_coding_transcript_exon_variant 0.182693 0.18842 0.02613 0.074636 0.605587703183267 0.0511368 0.00213375739441823 FALSE 4.06636e-06 ENSE00001219451_005 ENSE00001219451 005 21 47533865 47534034 + 57 66 47 C T 47533899 450 35 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTTTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46113984 46113985 46113985 upstr_intron -23 -0.385964912280702 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTTTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 153 138 0.972433099316273 1 0.986216549658136 NA NA 0.997078613405219 0.936292059779216 NA NA -0.0246455140889463 0.0637079402207836 NA 0.966685336592218 NA 0.0195312130659187 NA FALSE NA 0 -0.45 . intron_variant MODIFIER COL6A2 HGNC 2212 ENST00000397763 3/26 1 NA TCT C,T 8.237e-06 21:46113985 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 non_coding_transcript_exon_variant 0.133127 0.15154 0.00993 0.055982 0.488825879619013 0.0489367 0.00213375739441823 FALSE 4.06316e-06 ENSE00001219451_006 ENSE00001219451 006 21 47533865 47534034 + 57 66 47 G A 47533915 451 51 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCATTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114000 46114001 46114001 upstr_intron -7 -0.105263157894737 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCATTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 369 167 0.998314984217567 1 0.999157492108783 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00123637081234795 0.0637079402207836 NA 0.966685336592218 NA 0.0324721555165658 NA FALSE NA 0 -1.18 . splice_region_variant&intron_variant LOW COL6A2 HGNC 2212 ENST00000397763 3/26 rs375288629 1 NA A:0.0002 A:0 CGT G,A 6.589e-05 21:46114001 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 splice_region_variant -0.497783 0.08987 0.01487 0.055982 0.322183684300693 0.149158 0.00213375739441823 FALSE 4.87464e-05 ENSE00001219451_007 ENSE00001219451 007 21 47533865 47534034 + 57 66 47 A G 47533929 452 65 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAGGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114014 46114015 46114015 exon 8 0.121212121212121 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAGGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 785 187 1 0.999153322251155 0.999576661125577 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00292138659478114 0.0628612624719382 NA 0.966685336592218 NA 0.0328913245333597 NA FALSE NA 0.998 2.769 . missense_variant MODERATE COL6A2 HGNC 2212 ENST00000397763 4/27 1 tolerated(0.21) possibly_damaging(0.775) NA AAG A,G 8.237e-06 21:46114015 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 missense_variant 1.438902 0.96995 0.91667 0.695654 0.989866939422515 0 0.00213375739441823 FALSE 4.06213e-06 ENSE00001219451_008 ENSE00001219451 008 21 47533865 47534034 + 57 66 47 A G 47533945 453 81 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAGATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114030 46114031 46114031 exon 24 0.363636363636364 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAGATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 263 388 0.986925945661514 1 0.993462972830757 NA NA 0.997078613405219 0.936292059779216 NA NA -0.010152667743705 0.0637079402207836 NA 0.966685336592218 NA 0.0267776362385393 NA FALSE NA 1 2.655 rs140404854 synonymous_variant LOW COL6A2 HGNC 2212 ENST00000397763 4/27 rs140404854 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0005 AAA A,G 0.00014 21:46114031 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 synonymous_variant 0.357062 0.94204 0.04871 0.695654 0.580580514075365 0 0.00213375739441823 FALSE 0.000134046 ENSE00001219451_010 ENSE00001219451 010 21 47533865 47534034 + 57 66 47 C G 47533950 455 86 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCGTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114035 46114036 46114036 exon 29 0.439393939393939 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCGTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 138 222 0.971011716936973 0.996496070055418 0.983753893496196 NA NA 0.997078613405219 0.936292059779216 NA NA -0.026066896468246 0.060204010276202 NA 0.966685336592218 NA 0.017068556903978 NA FALSE NA 0 0.618 . missense_variant MODERATE COL6A2 HGNC 2212 ENST00000397763 4/27 1 tolerated(0.11) benign(0.012) NA CCT C,G 1.647e-05 21:46114036 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 missense_variant 1.533449 0.9464 0.52336 0.695654 0.994781021702748 0 0.00213375739441823 FALSE 8.1242e-06 ENSE00001219451_011 ENSE00001219451 011 21 47533865 47534034 + 57 66 47 C G 47533959 456 95 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTGTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114044 46114045 46114045 exon -29 0.575757575757576 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTGTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 182 13 0.997485829438243 1 0.998742914719121 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00040721603302396 0.0637079402207836 NA 0.966685336592218 NA 0.0320575781269038 NA FALSE NA 0.055 3.278 . missense_variant MODERATE COL6A2 HGNC 2212 ENST00000397763 4/27 1 deleterious(0.01) benign(0.357) NA TCT C,G 8.237e-06 21:46114045 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 missense_variant 3.820955 0.51509 0.62927 0.695654 0.9371404772256 0 0.00213375739441823 FALSE NA ENSE00001219451_012 ENSE00001219451 012 21 47533865 47534034 + 57 66 47 G T 47533962 457 98 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGTCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114047 46114048 46114048 exon -26 0.621212121212121 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGTCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 29 14 1 1 1 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00292138659478114 0.0637079402207836 NA 0.966685336592218 NA 0.0333146634077824 NA FALSE NA 1 8.492 . missense_variant MODERATE COL6A2 HGNC 2212 ENST00000397763 4/27 rs200200885 1 deleterious(0) probably_damaging(0.994) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GGC G,T 1.647e-05 21:46114048 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 missense_variant 5.604785 0.99141 0.99591 0.695654 0.994809606638461 0 0.00213375739441823 FALSE 8.12427e-06 ENSE00001219451_014 ENSE00001219451 014 21 47533865 47534034 + 57 66 47 C G 47533972 459 108 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGGTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114057 46114058 46114058 exon -16 0.772727272727273 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGGTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 1076 578 0.892324008987438 0.998067422026783 0.94519571550711 NA NA 0.997078613405219 0.936292059779216 NA NA -0.104754604417781 0.0617753622475664 NA 0.966685336592218 NA -0.0214896210851072 NA FALSE NA 0.937 -0.238 rs145500808 synonymous_variant LOW COL6A2 HGNC 2212 ENST00000397763 4/27 rs145500808 1 G:0.0004 G:0 G:0 NA G:0 G:0.002 G:0 G:0.0002 G:0.0001 GCT C,G 0.000173 21:46114058 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 synonymous_variant 1.405584 0.95896 0.74865 0.695654 0.751593885898221 0 0.00213375739441823 FALSE 0.000138106 ENSE00001219451_015 ENSE00001219451 015 21 47533865 47534034 + 57 66 47 C T 47533976 460 112 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACTGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114061 46114062 46114062 exon -12 0.833333333333333 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACTGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 1092 119 0.858314261879452 0.998668654184857 0.928491458032155 NA NA 0.997078613405219 0.936292059779216 NA NA -0.138764351525767 0.0623765944056409 NA 0.966685336592218 NA -0.0381938785600628 NA FALSE NA 1 0.455 . missense_variant MODERATE COL6A2 HGNC 2212 ENST00000397763 4/27 1 deleterious(0) probably_damaging(0.94) NA CCG C,T 8.237e-06 21:46114062 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 missense_variant 7.621929 0.97043 0.84217 0.695654 0.998229208857858 0 0.00213375739441823 FALSE 1.62485e-05 ENSE00001219451_017 ENSE00001219451 017 21 47533865 47534034 + 57 66 47 A C 47533985 462 121 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGCAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114070 46114071 46114071 exon -3 0.96969696969697 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGCAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 82 317 1 0.981445445076123 0.990722722538061 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00292138659478114 0.0451533852969065 NA 0.966685336592218 NA 0.0240373859458438 NA FALSE NA 1 7.972 . missense_variant&splice_region_variant MODERATE COL6A2 HGNC 2212 ENST00000397763 4/27 1 tolerated(0.08) possibly_damaging(0.525) NA GAA A,C 8.237e-06 21:46114071 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 missense_variant 5.579747 0.98894 0.99523 0.695654 0.990085558933205 0 0.00213375739441823 FALSE 4.0623e-06 ENSE00001219451_018 ENSE00001219451 018 21 47533865 47534034 + 57 66 47 C G 47533998 463 134 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCGAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114083 46114084 46114084 downstr_intron 11 1.23913043478261 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCGAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 42 159 1 1 1 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00292138659478114 0.0637079402207836 NA 0.966685336592218 NA 0.0333146634077824 NA FALSE NA 0.004 0.687 . intron_variant MODIFIER COL6A2 HGNC 2212 ENST00000397763 4/26 1 NA CCA C,G 8.237e-06 21:46114084 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 intron_variant -0.424206 0.20044 0.12567 0.090766 0.315825222801581 0.0709782 0.00213375739441823 FALSE 8.12651e-06 ENSE00001219451_019 ENSE00001219451 019 21 47533865 47534034 + 57 66 47 C T 47534005 464 141 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTATCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114090 46114091 46114091 downstr_intron 18 1.39130434782609 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTATCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 81 312 0.968452740690005 0.999877930103978 0.984165335396992 NA NA 0.997078613405219 0.936292059779216 NA NA -0.0286258727152136 0.0635858703247616 NA 0.966685336592218 NA 0.017479998804774 NA FALSE NA 0 0.162 . intron_variant MODIFIER COL6A2 HGNC 2212 ENST00000397763 4/26 1 NA ACC C,T 8.237e-06 21:46114091 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 intron_variant -0.179194 0.10188 0.03589 0.162113 0.436017413524334 0.0650763 0.00213375739441823 FALSE 4.06418e-06 ENSE00001219451_020 ENSE00001219451 020 21 47533865 47534034 + 57 66 47 G C 47534008 465 144 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTCCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 46114093 46114094 46114094 downstr_intron 21 1.45652173913043 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTCCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 803 128 0.992444841080129 1 0.996222420540065 NA NA 0.997078613405219 0.936292059779216 NA NA -0.00463377232508944 0.0637079402207836 NA 0.966685336592218 NA 0.0295370839478471 NA FALSE NA 0 -2.348 . intron_variant MODIFIER COL6A2 HGNC 2212 ENST00000397763 4/26 rs370916929 1 NA C:0.0002 C:0 TGC G,C 1.647e-05 21:46114094 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 intron_variant -0.435333 0.11586 0.00724 0.162113 0.530433506058145 0.0650763 0.00213375739441823 FALSE 8.12982e-06 ENSE00001219451_021 ENSE00001219451 021 21 47533865 47534034 + 57 66 47 C T 47534018 466 154 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGTGCTACCAGGAAGCCCC 46113950 46114120 46114103 46114104 46114104 downstr_intron 31 1.67391304347826 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGTGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 258 1355 1 0.99976649381886 0.99988324690943 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00292138659478114 0.0634744340396431 NA 0.966685336592218 NA 0.0331979103172121 NA FALSE NA 0 -1.018 . intron_variant MODIFIER COL6A2 HGNC 2212 ENST00000397763 4/26 1 NA GCG C,T 4.119e-05 21:46114104 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 intron_variant -0.49857 0.08483 0.00462 0.078448 0.591592355743281 0.0650763 0.00213375739441823 FALSE 9.35583e-05 ENSE00001219451_022 ENSE00001219451 022 21 47533865 47534034 + 57 66 47 G A 47534019 467 155 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCACTACCAGGAAGCCCC 46113950 46114120 46114104 46114105 46114105 downstr_intron 32 1.69565217391304 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCACTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 152 69 1 1 1 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00292138659478114 0.0637079402207836 NA 0.966685336592218 NA 0.0333146634077824 NA FALSE NA 0 -3.519 . intron_variant MODIFIER COL6A2 HGNC 2212 ENST00000397763 4/26 rs369323164 1 NA A:0 A:0.0002 CGC G,A 7.414e-05 21:46114105 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 intron_variant -1.115586 0.01909 0.00292 0.078448 0.416247712931466 0.0657655 0.00213375739441823 FALSE 6.10123e-05 ENSE00001219451_023 ENSE00001219451 023 21 47533865 47534034 + 57 66 47 C T 47534023 468 159 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTATCAGGAAGCCCC 46113950 46114120 46114108 46114109 46114109 downstr_intron 36 1.78260869565217 TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTATCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC mutant NA NA NA NA NA 127 428 1 1 1 NA NA 0.997078613405219 0.936292059779216 NA NA 0.00292138659478114 0.0637079402207836 NA 0.966685336592218 NA 0.0333146634077824 NA FALSE NA 0 -0.293 . intron_variant MODIFIER COL6A2 HGNC 2212 ENST00000397763 4/26 rs528673254 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACC C,T 2.471e-05 21:46114109 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001219451 intron_variant 0.213822 0.10027 0.01035 0.078448 0.731555635463486 0.0657655 0.00213375739441823 FALSE 1.22085e-05 ENSE00001219451_BRK ENSE00001219451 BRK 21 47533865 47534034 + 57 66 47 A,G; T,T NA NA NA TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCTTTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGCCAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC 46113950 46114120 NA NA NA NA NA NA TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCTTTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGCCAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC TGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCC control 64 17 0 0 0 324 257 0 0 0 NA NA 0.997078613405219 0.936292059779216 NA NA -0.997078613405219 -0.936292059779216 NA 0.966685336592218 NA -0.966685336592218 NA TRUE NA NA NA NA NA NA COL6A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A2 NA NA NA ENSG00000142173 ENSE00001219451 NA NA NA NA NA NA NA 0.00213375739441823 FALSE NA ENSE00001220637_000 ENSE00001220637 000 17 78829216 78829385 + 48 84 38 NA NA NA NA NA CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 NA NA NA NA NA NA CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG natural 102 111 0.973720217533958 0.987590084104722 0.98065515081934 1958 1808 0.972970002291178 0.99827658540074 0.985623293845959 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 0 0 0 0 0.98065515081934 0.985623293845959 0 0 0 FALSE FALSE NA NA NA NA NA RPTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPTOR NA NA NA ENSG00000141564 ENSE00003625180 NA NA NA NA NA NA NA 0.999999983261949 TRUE NA ENSE00001220637_002 ENSE00001220637 002 17 78829216 78829385 + 48 84 38 G A 78829235 3301 20 CACACCAGTATGGTTTGCAATGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855434 80855435 80855435 upstr_intron -29 -0.583333333333333 CACACCAGTATGGTTTGCAATGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant 57 50 0.921266109539258 0.932923998754273 0.927095054146766 42 452 1 1 1 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 -0.0524541079946999 -0.0546660853504491 0.0270299977088222 0.00172341459925951 0.98065515081934 0.985623293845959 -0.0535600966725745 0.0143767061540409 0.0679368028266154 FALSE FALSE 0 -2.115 . intron_variant MODIFIER RPTOR HGNC 30287 ENST00000537330 10/11 1 NA AGT G,A 8.236e-06 17:80855435 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 intron_variant 0.009247 0.21364 0.01067 0.121938 0.516257540945812 0.053518 0.999999983261949 TRUE 4.06372e-06 ENSE00001220637_004 ENSE00001220637 004 17 78829216 78829385 + 48 84 38 A G 78829238 3303 23 CACACCAGTATGGTTTGCAGTGGTACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855437 80855438 80855438 upstr_intron -26 -0.520833333333333 CACACCAGTATGGTTTGCAGTGGTACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant NA NA NA NA NA 375 110 0.999591111726153 1 0.999795555863077 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 NA NA 0.0266211094349754 0.00172341459925951 0.98065515081934 0.985623293845959 NA 0.0141722620171175 NA FALSE NA 0 0.839 . intron_variant MODIFIER RPTOR HGNC 30287 ENST00000537330 10/11 rs368562401 1 NA G:0.0002 G:0 GAT A,G 1.647e-05 17:80855438 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 intron_variant 0.152856 0.23365 0.0394 0.121938 0.334966557144605 0.0530415 0.999999983261949 TRUE 1.62518e-05 ENSE00001220637_005 ENSE00001220637 005 17 78829216 78829385 + 48 84 38 G C 78829287 3304 72 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGCCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855486 80855487 80855487 exon 24 0.285714285714286 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGCCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant 25 494 0.968844811114501 0.85 0.90942240555725 393 34 1 1 1 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 -0.00487540641945705 -0.137590084104722 0.0270299977088222 0.00172341459925951 0.98065515081934 0.985623293845959 -0.0712327452620897 0.0143767061540409 0.0856094514161306 FALSE FALSE 1 2.265 . synonymous_variant LOW RPTOR HGNC 30287 ENST00000537330 11/12 1 NA GGC G,C 8.236e-06 17:80855487 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 synonymous_variant 0.964494 0.97716 0.91582 0.706298 0.658656250432201 0 0.999999983261949 TRUE 1.6243e-05 ENSE00001220637_006 ENSE00001220637 006 17 78829216 78829385 + 48 84 38 T C 78829297 3305 82 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCACTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855496 80855497 80855497 exon 34 0.404761904761905 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCACTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant NA NA NA NA NA 1200 16 0.999484444126771 1 0.999742222063385 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 NA NA 0.0265144418355928 0.00172341459925951 0.98065515081934 0.985623293845959 NA 0.0141189282174262 NA FALSE NA 0.939 2.268 . synonymous_variant LOW RPTOR HGNC 30287 ENST00000537330 11/12 rs557463332 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATT T,C 3.295e-05 17:80855497 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 synonymous_variant 0.128321 0.96895 0.38997 0.706298 0.663234262381245 0 0.999999983261949 TRUE 4.06058e-05 ENSE00001220637_007 ENSE00001220637 007 17 78829216 78829385 + 48 84 38 G A 78829299 3306 84 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTAGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855498 80855499 80855499 exon 36 0.428571428571429 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTAGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant NA NA NA NA NA 122 29 1 1 1 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 NA NA 0.0270299977088222 0.00172341459925951 0.98065515081934 0.985623293845959 NA 0.0143767061540409 NA FALSE NA 1 1.443 . synonymous_variant LOW RPTOR HGNC 30287 ENST00000537330 11/12 1 NA TGG G,A 8.236e-06 17:80855499 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 synonymous_variant 1.173477 0.98195 0.88606 0.706298 0.8250578814189 0 0.999999983261949 TRUE 4.06058e-06 ENSE00001220637_008 ENSE00001220637 008 17 78829216 78829385 + 48 84 38 T C 78829318 3307 103 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTCTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855517 80855518 80855518 exon -30 0.654761904761905 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTCTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant NA NA NA NA NA 368 286 1 0.994990214938965 0.997495107469482 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 NA NA 0.0270299977088222 -0.00328637046177571 0.98065515081934 0.985623293845959 NA 0.0118718136235232 NA FALSE NA 0.023 -0.233 . synonymous_variant LOW RPTOR HGNC 30287 ENST00000537330 11/12 1 NA TTT T,C 8.236e-06 17:80855518 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 synonymous_variant -0.471463 0.18964 0.01671 0.722319 0.55232010736857 0 0.999999983261949 TRUE 8.1211e-06 ENSE00001220637_009 ENSE00001220637 009 17 78829216 78829385 + 48 84 38 C T 78829351 3308 136 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGTGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855550 80855551 80855551 downstr_intron 4 1.10810810810811 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGTGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant NA NA NA NA NA 281 1064 1 1 1 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 NA NA 0.0270299977088222 0.00172341459925951 0.98065515081934 0.985623293845959 NA 0.0143767061540409 NA FALSE NA 0 -3.561 . splice_region_variant&intron_variant LOW RPTOR HGNC 30287 ENST00000537330 11/11 rs369482636 1 NA T:0 T:0.0002 GCG C,T 4.118e-05 17:80855551 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 splice_region_variant 0.419685 0.18332 0.03972 0.078485 0.441068555174842 0.212632 0.999999983261949 TRUE 5.68579e-05 ENSE00001220637_010 ENSE00001220637 010 17 78829216 78829385 + 48 84 38 C T 78829355 3309 140 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGTCTTCCGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855554 80855555 80855555 downstr_intron 8 1.21621621621622 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGTCTTCCGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant NA NA NA NA NA 20 232 1 1 1 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 NA NA 0.0270299977088222 0.00172341459925951 0.98065515081934 0.985623293845959 NA 0.0143767061540409 NA FALSE NA 0.002 -0.08 . splice_region_variant&intron_variant LOW RPTOR HGNC 30287 ENST00000537330 11/11 1 NA GCC C,T 8.236e-06 17:80855555 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 splice_region_variant 0.221385 0.23139 0.01745 0.078485 0.382448022676922 0.0882918 0.999999983261949 TRUE NA ENSE00001220637_012 ENSE00001220637 012 17 78829216 78829385 + 48 84 38 C T 78829360 3311 145 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCTGCATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855559 80855560 80855560 downstr_intron 13 1.35135135135135 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCTGCATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant 12 11 0.986193490169745 0.999496144876102 0.992844817522924 1195 1026 0.994674029101962 0.997704776768818 0.99618940293539 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 0.0124732726357875 0.01190606077138 0.0217040268107842 -0.000571808631922188 0.98065515081934 0.985623293845959 0.0121896667035837 0.010566109089431 0.00162355761415273 FALSE FALSE 0 -0.389 NA NA NA RPTOR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:80855560 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 intron_variant -0.267395 0.15759 0.00201 0.048788 0.553978562524298 0.0781268 0.999999983261949 TRUE 4.06207e-05 ENSE00001220637_013 ENSE00001220637 013 17 78829216 78829385 + 48 84 38 G A 78829361 3312 146 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCACATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855560 80855561 80855561 downstr_intron 14 1.37837837837838 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCACATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant NA NA NA NA NA 498 333 0.999692149641034 0.951371853129377 0.975532001385206 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 NA NA 0.0267221473498567 -0.0469047322713637 0.98065515081934 0.985623293845959 NA -0.0100912924607535 NA FALSE NA 0.008 0.929 . intron_variant MODIFIER RPTOR HGNC 30287 ENST00000537330 11/11 rs376638038 1 NA A:0.0005 A:0.0002 CGC G,A 0.0001071 17:80855561 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 intron_variant -0.130045 0.27305 0.06303 0.048788 0.354067582180202 0.0781268 0.999999983261949 TRUE 0.000150309 ENSE00001220637_014 ENSE00001220637 014 17 78829216 78829385 + 48 84 38 C T 78829362 3313 147 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGTATTAACCTGGGGGCTGAGGGAGG 80855415 80855585 80855561 80855562 80855562 downstr_intron 15 1.40540540540541 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGTATTAACCTGGGGGCTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant 30 33 0.942820972418709 0.987630318087548 0.965225645253128 66 209 1 1 1 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 -0.030899245115249 4.02339828259324e-05 0.0270299977088222 0.00172341459925951 0.98065515081934 0.985623293845959 -0.0154295055662115 0.0143767061540409 0.0298062117202524 FALSE FALSE 0.015 0.172 . intron_variant MODIFIER RPTOR HGNC 30287 ENST00000537330 11/11 rs575666119 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCA C,T 2.471e-05 17:80855562 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 intron_variant 0.279596 0.26385 0.01702 0.048788 0.274969786664552 0.0518458 0.999999983261949 TRUE 2.03105e-05 ENSE00001220637_015 ENSE00001220637 015 17 78829216 78829385 + 48 84 38 G A 78829375 3314 160 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGACTGAGGGAGG 80855415 80855585 80855574 80855575 80855575 downstr_intron 28 1.75675675675676 CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGACTGAGGGAGG CACACCAGTATGGTTTGCAGTGATACCATTTTCTTCTTGTTCTTCCAGGTGCTGTTAAGCCAAGTGCACCGGCTGAGAGCATTGGACTTGCTTGGAAGATTTTTGGACCTGGGTCCCTGGGCAGTGAGCCTGGTGCGTGCCTTCCGCATTAACCTGGGGGCTGAGGGAGG mutant NA NA NA NA NA 186 250 1 1 1 0.973720217533958 0.987590084104722 0.972970002291178 0.99827658540074 NA NA 0.0270299977088222 0.00172341459925951 0.98065515081934 0.985623293845959 NA 0.0143767061540409 NA FALSE NA 0 -1.765 rs12943041 intron_variant MODIFIER RPTOR HGNC 30287 ENST00000537330 11/11 rs12943041 1 A:0.1314 A:0.0197 A:0.1369 NA A:0.1458 A:0.2366 A:0.1554 A:0.0549 A:0.2051 GGC G,A 0.183 17:80855575 RPTOR HGNC Symbol protein_coding 421552 ENSG00000141564 ENSE00003625180 intron_variant 0.129641 0.21077 0.01467 0.078448 0.575163934924086 0.0675211 0.999999983261949 TRUE 0.185719 ENSE00001220914_000 ENSE00001220914 000 18 694212 694381 - 36 87 47 NA NA NA NA NA TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 NA NA NA NA NA NA TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG natural 82 88 0.907986379363615 0.85 0.878993189681808 987 1253 0.961795848833877 0.965131417938071 0.963463633385974 0.907986379363615 0.85 0.961795848833877 0.965131417938071 0 0 0 0 0.878993189681808 0.963463633385974 0 0 0 FALSE FALSE NA NA NA NA NA ENOSF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENOSF1 NA NA NA ENSG00000132199 ENSE00003658009 NA NA NA NA NA NA NA 1.26226997891008e-10 FALSE NA ENSE00001220914_001 ENSE00001220914 001 18 694212 694381 - 36 87 47 G C 694226 11 156 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTGAGGAGGCTCCTGGG 694211 694381 694225 694226 694226 downstr_intron 22 1.62857142857143 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTGAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 411 106 0.959804359242877 0.980317061255854 0.970060710249366 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.00199148959100004 0.0151856433177838 0.878993189681808 0.963463633385974 NA 0.00659707686339189 NA FALSE NA 0 -0.242 . intron_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/7 1 NA TGA G,C 8.237e-06 18:694226 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 intron_variant -0.589482 0.10544 0.0243 0.262962 0.443471069874337 0.0584586 1.26226997891008e-10 FALSE 4.10004e-06 ENSE00001220914_002 ENSE00001220914 002 18 694212 694381 - 36 87 47 C T 694229 12 153 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACACTCAGGAGGCTCCTGGG 694211 694381 694228 694229 694229 downstr_intron 19 1.54285714285714 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACACTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 362 345 0.98766991148567 0.995694988328233 0.991682449906951 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA 0.0258740626517922 0.0305635703901621 0.878993189681808 0.963463633385974 NA 0.0282188165209771 NA FALSE NA 0 -0.241 . intron_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/7 1 NA GCG C,T 8.237e-06 18:694229 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 intron_variant -0.115813 0.07541 0.00151 0.262962 0.412012351188236 0.0584586 1.26226997891008e-10 FALSE 4.09209e-05 ENSE00001220914_006 ENSE00001220914 006 18 694212 694381 - 36 87 47 G T 694241 16 141 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCACTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694240 694241 694241 downstr_intron 7 1.2 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCACTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 342 744 0.996333154091044 0.997611764093648 0.996972459092346 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA 0.0345373052571666 0.0324803461555777 0.878993189681808 0.963463633385974 NA 0.0335088257063721 NA FALSE NA 0 0.019 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ENOSF1 HGNC 30365 ENST00000585004 3/7 1 NA GGG G,T 3.295e-05 18:694241 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 splice_region_variant -0.033737 0.23002 0.03298 0.262962 0.25529012593575 0.154252 1.26226997891008e-10 FALSE 8.14856e-06 ENSE00001220914_008 ENSE00001220914 008 18 694212 694381 - 36 87 47 T A 694255 18 127 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGTGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694254 694255 694255 exon -8 0.919540229885057 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGTGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 25 20 0.812814709887551 0.812480966566761 0.812647838227156 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.148981138946326 -0.15265045137131 0.878993189681808 0.963463633385974 NA -0.150815795158818 NA FALSE NA 1 6.149 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs555175383 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CTC T,A 8.236e-06 18:694255 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 3.680871 0.98958 0.96534 0.706298 0.991733112213952 0 1.26226997891008e-10 FALSE NA ENSE00001220914_009 ENSE00001220914 009 18 694212 694381 - 36 87 47 G C 694264 19 118 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGGCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694263 694264 694264 exon -17 0.816091954022989 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGGCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 88 47 0.86174108012813 0.8 0.830870540064065 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.100054768705747 -0.165131417938071 0.878993189681808 0.963463633385974 NA -0.132593093321909 NA FALSE NA 1 7.529 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs370363817 1 C:0.0006 C:0 C:0 NA C:0 C:0 C:0.0031 GGC G,C 0.0005436 18:694264 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 3.570783 0.99226 0.98183 0.706298 0.993069101772868 0 1.26226997891008e-10 FALSE 0.000426836 ENSE00001220914_010 ENSE00001220914 010 18 694212 694381 - 36 87 47 A C 694268 20 114 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGGGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694267 694268 694268 exon -21 0.770114942528736 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGGGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 10 29 0.85 0.85 0.85 41 34 0.918876441025216 0.95 0.934438220512608 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 0 -0.0429194078086612 -0.0151314179380706 0.878993189681808 0.963463633385974 -0.0289931896818077 -0.0290254128733659 3.22231915582116e-05 FALSE FALSE 1 5.406 rs144714633 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs144714633 1 C:0.0012 C:0.0045 C:0 NA C:0 C:0 C:0 C:0.0059 C:0 CAC A,C 0.0004118 18:694268 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 5.978059 0.98989 0.96717 0.706298 0.980709284876638 0 1.26226997891008e-10 FALSE 0.000418618 ENSE00001220914_011 ENSE00001220914 011 18 694212 694381 - 36 87 47 C G 694269 21 113 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTCTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694268 694269 694269 exon -22 0.758620689655172 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTCTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 387 662 1 0.997191971395277 0.998595985697639 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA 0.0382041511661225 0.0320605534572069 0.878993189681808 0.963463633385974 NA 0.0351323523116647 NA FALSE NA 0.977 0.014 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 1 NA ACA C,G 8.236e-06 18:694269 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 5.678581 0.96974 0.64761 0.706298 0.99831961396762 0 1.26226997891008e-10 FALSE 4.06379e-06 ENSE00001220914_012 ENSE00001220914 012 18 694212 694381 - 36 87 47 A G 694270 22 112 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTCGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694269 694270 694270 exon -23 0.747126436781609 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTCGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 227 1069 1 0.999816379317505 0.999908189658752 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA 0.0382041511661225 0.0346849613794341 0.878993189681808 0.963463633385974 NA 0.0364445562727783 NA FALSE NA 1 7.13 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs370291890 1 NA G:0.0002 G:0 CAA A,G 8.236e-06 18:694270 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 6.290552 0.98973 0.97581 0.706298 0.998599664439488 0 1.26226997891008e-10 FALSE NA ENSE00001220914_013 ENSE00001220914 013 18 694212 694381 - 36 87 47 T C 694273 23 109 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGGCTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694272 694273 694273 exon -26 0.71264367816092 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGGCTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 52 51 0.85 0.85 0.85 NA NA NA NA NA 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 1.11022302462516e-16 NA NA 0.878993189681808 0.963463633385974 -0.0289931896818076 NA NA NA FALSE 1 6.149 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 1 NA GTC T,C 8.236e-06 18:694273 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 6.204516 0.98936 0.96057 0.706298 0.998540770149429 0 1.26226997891008e-10 FALSE 4.06286e-06 ENSE00001220914_014 ENSE00001220914 014 18 694212 694381 - 36 87 47 C T 694280 24 102 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGATGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694279 694280 694280 exon -33 0.632183908045977 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGATGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 1236 877 0.994768368093502 0.992455110691701 0.993611739392602 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA 0.0329725192596244 0.0273236927536309 0.878993189681808 0.963463633385974 NA 0.0301481060066277 NA FALSE NA 0.526 1.523 rs138575804 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs138575804 1 NA T:0.0005 T:0 ACC C,T 3.295e-05 18:694280 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 4.786768 0.9501 0.62276 0.706298 0.997397620115733 0 1.26226997891008e-10 FALSE 8.12519e-06 ENSE00001220914_015 ENSE00001220914 015 18 694212 694381 - 36 87 47 C T 694281 25 101 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCAGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694280 694281 694281 exon -34 0.620689655172414 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCAGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 13 29 0.85 0.85 0.85 NA NA NA NA NA 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 0 NA NA 0.878993189681808 0.963463633385974 -0.0289931896818077 NA NA NA FALSE 0.004 -1.592 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs565285548 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 5.765e-05 18:694281 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 1.188101 0.77585 0.04799 0.706298 0.77419593935949 0 1.26226997891008e-10 FALSE 5.6881e-05 ENSE00001220914_016 ENSE00001220914 016 18 694212 694381 - 36 87 47 G A 694282 26 100 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGTGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694281 694282 694282 exon -35 0.609195402298851 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGTGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 311 1154 0.919312343864271 0.931029526816279 0.925170935340275 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.0424835049696062 -0.0341018911217918 0.878993189681808 0.963463633385974 NA -0.038292698045699 NA FALSE NA 1 7.529 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 COSM438358 1 NA CGC G,A 8.236e-06 18:694282 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 5.877073 0.99191 0.97732 0.706298 0.999163554579057 0 1.26226997891008e-10 FALSE 8.12572e-06 ENSE00001220914_017 ENSE00001220914 017 18 694212 694381 - 36 87 47 G T 694284 27 98 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAAAGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694283 694284 694284 exon -37 0.586206896551724 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAAAGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 41 25 0.85 0.85 0.85 537 697 0.900996935963749 0.948542226296933 0.92476958113034 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 0 -0.060798912870129 -0.016589191641138 0.878993189681808 0.963463633385974 -0.0289931896818077 -0.0386940522556335 0.0097008625738258 FALSE FALSE 1 0.944 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 1 NA CGT G,T 8.236e-06 18:694284 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 3.725778 0.9657 0.71011 0.706298 0.965843962916836 0 1.26226997891008e-10 FALSE 4.06253e-06 ENSE00001220914_018 ENSE00001220914 018 18 694212 694381 - 36 87 47 C T 694292 28 90 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCATCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694291 694292 694292 exon 43 0.494252873563218 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCATCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 26 92 0.85 0.85 0.85 1403 344 0.86612597318024 0.946121286769945 0.906123629975092 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 0 -0.0956698756536377 -0.0190101311681256 0.878993189681808 0.963463633385974 -0.0289931896818077 -0.0573400034108816 0.0283468137290739 FALSE FALSE 0 -1.406 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:694292 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant -0.688104 0.16018 0.01518 0.736574 0.740595549579676 0 1.26226997891008e-10 FALSE 2.43774e-05 ENSE00001220914_019 ENSE00001220914 019 18 694212 694381 - 36 87 47 C A 694292 29 90 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCTTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694291 694292 694292 exon 43 0.494252873563218 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCTTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 1445 2557 0.885601576238011 0.900852796229403 0.893227186233707 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.0761942725958665 -0.0642786217086672 0.878993189681808 0.963463633385974 NA -0.0702364471522668 NA FALSE NA 0 -1.406 NA NA NA ENOSF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENOSF1 NA NA NA ENSG00000132199 ENSE00003658009 missense_variant 3.123928 0.18589 0.05765 0.736574 0.986526821431567 0 1.26226997891008e-10 FALSE 4.06289e-06 ENSE00001220914_020 ENSE00001220914 020 18 694212 694381 - 36 87 47 G A 694293 30 89 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCTGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694292 694293 694293 exon 42 0.482758620689655 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCTGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 324 203 0.981488058159693 0.961902886436804 0.971695472298249 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA 0.0196922093258158 -0.00322853150126667 0.878993189681808 0.963463633385974 NA 0.00823183891227458 NA FALSE NA 0.002 -0.23 rs141273697 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs141273697 1 NA A:0.0005 A:0 CGG G,A 1.647e-05 18:694293 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 0.653717 0.18245 0.0416 0.736574 0.672958218416623 0 1.26226997891008e-10 FALSE 2.84389e-05 ENSE00001220914_021 ENSE00001220914 021 18 694212 694381 - 36 87 47 G A 694294 31 88 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGTCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694293 694294 694294 exon 41 0.471264367816092 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGTCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 101 261 0.030862860291032 0.0652591572795556 0.0480610087852938 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.930932988542845 -0.899872260658515 0.878993189681808 0.963463633385974 NA -0.91540262460068 NA TRUE NA 1 7.529 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 1 NA GGC G,A 8.236e-06 18:694294 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 5.258259 0.99154 0.97707 0.736574 0.998957866579822 0 1.26226997891008e-10 FALSE 4.469e-05 ENSE00001220914_022 ENSE00001220914 022 18 694212 694381 - 36 87 47 C T 694296 32 86 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCAGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694295 694296 694296 exon 39 0.448275862068966 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCAGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 11 11 0.85 0.85 0.85 454 263 0.799912286861772 0.910163955921726 0.855038121391749 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 0 -0.161883561972105 -0.0549674620163447 0.878993189681808 0.963463633385974 -0.0289931896818077 -0.108425511994225 0.0794323223124174 FALSE FALSE 0.004 -2.192 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 1 NA CCG C,T 8.236e-06 18:694296 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 1.302211 0.28329 0.01469 0.736574 0.652079487704651 0 1.26226997891008e-10 FALSE 1.62503e-05 ENSE00001220914_023 ENSE00001220914 023 18 694212 694381 - 36 87 47 G T 694297 33 85 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGAGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694296 694297 694297 exon 38 0.436781609195402 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGAGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 56 67 0.85 0.85 0.85 142 339 0.910907780836115 0.92124687700209 0.916077328919102 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 0 -0.0508880679977621 -0.0438845409359809 0.878993189681808 0.963463633385974 -0.0289931896818077 -0.0473863044668715 0.0183931147850638 FALSE FALSE 1 7.529 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:694297 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 5.393886 0.99133 0.98003 0.736574 0.99433516876376 0 1.26226997891008e-10 FALSE 4.0626e-06 ENSE00001220914_024 ENSE00001220914 024 18 694212 694381 - 36 87 47 G A 694297 34 85 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGTGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694296 694297 694297 exon 38 0.436781609195402 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGTGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 402 35 0.816321451578657 0.819516923353055 0.817919187465856 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.145474397255221 -0.145614494585015 0.878993189681808 0.963463633385974 NA -0.145544445920118 NA FALSE NA 1 7.529 NA NA NA ENOSF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENOSF1 NA NA NA ENSG00000132199 ENSE00003658009 missense_variant 5.564739 0.99108 0.97677 0.736574 0.998912458269381 0 1.26226997891008e-10 FALSE 2.0313e-05 ENSE00001220914_025 ENSE00001220914 025 18 694212 694381 - 36 87 47 C T 694302 35 80 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCAACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694301 694302 694302 exon 33 0.379310344827586 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCAACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 31 90 0.85 0.85 0.85 383 554 0.803779872395577 0.806320352246053 0.805050112320815 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 0 -0.158015976438301 -0.158811065692018 0.878993189681808 0.963463633385974 -0.0289931896818077 -0.158413521065159 0.129420331383351 FALSE FALSE 0.001 -3.188 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 1 NA TCG C,T 8.236e-06 18:694302 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 1.315691 0.12316 0.01448 0.736574 0.679735048834815 0 1.26226997891008e-10 FALSE 2.43762e-05 ENSE00001220914_026 ENSE00001220914 026 18 694212 694381 - 36 87 47 G A 694303 36 79 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGTGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694302 694303 694303 exon 32 0.367816091954023 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGTGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 1153 272 0.926137508050382 0.960222374231837 0.943179941141109 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.0356583407834956 -0.0049090437062338 0.878993189681808 0.963463633385974 NA -0.0202836922448647 NA FALSE NA 1 7.529 rs150777254 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs150777254 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0019 CGC G,A 0.001763 18:694303 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 6.080365 0.99184 0.97727 0.736574 0.999234051487837 0 1.26226997891008e-10 FALSE 0.0016739 ENSE00001220914_028 ENSE00001220914 028 18 694212 694381 - 36 87 47 C A 694313 38 69 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGTTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694312 694313 694313 exon 22 0.252873563218391 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGTTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 114 260 0.801412546551213 0.801526752029824 0.801469649290518 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.160383302282665 -0.163604665908246 0.878993189681808 0.963463633385974 NA -0.161993984095456 NA FALSE NA 1 3.135 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 1 NA ACC C,A 8.236e-06 18:694313 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 2.307065 0.98217 0.90839 0.736574 0.974566210096637 0 1.26226997891008e-10 FALSE NA ENSE00001220914_029 ENSE00001220914 029 18 694212 694381 - 36 87 47 C T 694316 39 66 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCATGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694315 694316 694316 exon 19 0.218390804597701 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCATGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 638 45 0.779621858033738 0.948012319665978 0.863817088849858 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.18217399080014 -0.0171190982720921 0.878993189681808 0.963463633385974 NA -0.099646544536116 NA FALSE NA 1 5.982 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs375897872 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0001 ACG C,T 3.295e-05 18:694316 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 5.531381 0.97129 0.93319 0.736574 0.997853984183629 0 1.26226997891008e-10 FALSE 3.251e-05 ENSE00001220914_030 ENSE00001220914 030 18 694212 694381 - 36 87 47 G A 694317 40 65 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGTGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694316 694317 694317 exon 18 0.206896551724138 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGTGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 18 13 0.85 0.85 0.85 649 237 0.899724837586453 0.800609296349707 0.85016706696808 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 -1.11022302462516e-16 -0.0620710112474242 -0.164522121588364 0.878993189681808 0.963463633385974 -0.0289931896818078 -0.113296566417894 0.0843033767360862 FALSE FALSE 0.001 -1.848 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 3/8 rs201896416 1 A:0.0006 A:0.0015 A:0 NA A:0 A:0 A:0.001 CGC G,A 4.118e-05 18:694317 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 0.692251 0.22531 0.01593 0.736574 0.523339275133718 0 1.26226997891008e-10 FALSE 2.43845e-05 ENSE00001220914_032 ENSE00001220914 032 18 694212 694381 - 36 87 47 T C 694334 42 48 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGGTTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694333 694334 694334 exon 1 0.0114942528735632 TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGGTTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 556 182 0.993155911324701 1 0.996577955662351 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA 0.0313600624908236 0.0348685820619294 0.878993189681808 0.963463633385974 NA 0.0331143222763765 NA FALSE NA 1 1.299 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ENOSF1 HGNC 30365 ENST00000585004 3/8 1 NA ATC T,C 8.237e-06 18:694334 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 missense_variant 0.848072 0.97733 0.92433 0.736574 0.966453849957533 0 1.26226997891008e-10 FALSE 1.62636e-05 ENSE00001220914_036 ENSE00001220914 036 18 694212 694381 - 36 87 47 T G 694352 46 30 TCTTTTTCATTTCTAAAAAGTGCTTTTGTCCTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694351 694352 694352 upstr_intron -18 -0.361702127659574 TCTTTTTCATTTCTAAAAAGTGCTTTTGTCCTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant NA NA NA NA NA 96 214 0.885640071760339 1 0.942820035880169 0.907986379363615 0.85 0.961795848833877 0.965131417938071 NA NA -0.0761557770735386 0.0348685820619294 0.878993189681808 0.963463633385974 NA -0.0206435975058046 NA FALSE NA 0 -1.069 . intron_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 2/7 1 NA GTA T,G 8.237e-06 18:694352 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 intron_variant 0.092405 0.23309 0.037 0 0.539510914705412 0.11614 1.26226997891008e-10 FALSE 4.08297e-06 ENSE00001220914_038 ENSE00001220914 038 18 694212 694381 - 36 87 47 T C 694367 48 15 TCTTTTTCATTTCTGAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 694366 694367 694367 upstr_intron -33 -0.680851063829787 TCTTTTTCATTTCTGAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG mutant 23 37 0.85 0.85 0.85 824 514 0.938378511532992 0.886023162636106 0.912200837084549 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.0579863793636154 0 -0.0234173373008852 -0.0791082553019647 0.878993189681808 0.963463633385974 -0.0289931896818077 -0.051262796301425 0.0222696066196173 FALSE FALSE 0.773 0.338 . intron_variant&non_coding_transcript_variant MODIFIER ENOSF1 HGNC 30365 ENST00000585004 2/7 1 NA TTA T,C 8.238e-06 18:694367 ENOSF1 HGNC Symbol protein_coding 42352 ENSG00000132199 ENSE00003658009 intron_variant 0.156423 0.16948 0.18562 0 0.430863754200665 0.0682425 1.26226997891008e-10 FALSE 1.67625e-05 ENSE00001220914_BRK ENSE00001220914 BRK 18 694212 694381 - 36 87 47 A,G; T,T NA NA NA TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCTTATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGCCAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG 694211 694381 NA NA NA NA NA NA TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCTTATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGCCAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG TCTTTTTCATTTCTAAAAAGTGCTTTTGTACTTTGCTTCCTAACCAGATTGGTCCAGAAAAGGGCGTGGTGCACCTGGCGACAGCGGCCGTCCTAAACGCGGTGTGGGACTTGTGGGCCAAGCAGGAGGGAAAGGTAACCCCTCTCACAAACGCTCAGGAGGCTCCTGGG control 56 31 0 0 0 213 407 0.024834789661092 0.0721346090131533 0.0484846993371227 0.907986379363615 0.85 0.961795848833877 0.965131417938071 -0.907986379363615 -0.85 -0.936961059172785 -0.892996808924917 0.878993189681808 0.963463633385974 -0.878993189681808 -0.914978934048851 0.0359857443670437 TRUE TRUE NA NA NA NA NA ENOSF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENOSF1 NA NA NA ENSG00000132199 ENSE00003658009 NA NA NA NA NA NA NA 1.26226997891008e-10 FALSE NA ENSE00001221244_000 ENSE00001221244 000 15 57823843 57824012 + 45 90 35 NA NA NA NA NA GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 NA NA NA NA NA NA GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC natural 292 82 0.864400625682921 0.983149007883893 0.923774816783407 1576 2148 0.88778418770675 0.967810834198615 0.927797510952682 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 0 0 0 0 0.923774816783407 0.927797510952682 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CGNL1 NA NA NA ENSG00000128849 ENSE00001221244 NA NA NA NA NA NA NA 9.04937499888625e-14 FALSE NA ENSE00001221244_001 ENSE00001221244 001 15 57823843 57824012 + 45 90 35 G T 57823854 1055 12 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAAATTGCACTGACC 57531644 57531814 57531655 57531656 57531656 upstr_intron -34 -0.733333333333333 GGTCAGTGCAATTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 180 117 1 1 1 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.11221581229325 0.0321891658013852 0.923774816783407 0.927797510952682 NA 0.0722024890473177 NA FALSE NA 0.002 0.608 NA NA NA CGNL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:57531656 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 intron_variant 0.06016 0.31824 0.11244 0.099367 0.69874505615869 0.0664093 9.04937499888625e-14 FALSE 4.06749e-06 ENSE00001221244_003 ENSE00001221244 003 15 57823843 57824012 + 45 90 35 A T 57823862 1057 20 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTAGACTTAACTTGCACTGACC 57531644 57531814 57531663 57531664 57531664 upstr_intron -26 -0.555555555555556 GGTCAGTGCAAGTTAAGTCTACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 56 30 0.998520894445658 1 0.999260447222829 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.110736706738908 0.0321891658013852 0.923774816783407 0.927797510952682 NA 0.0714629362701468 NA FALSE NA 0 0.182 . intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 13/18 1 NA CAA G,T 8.236e-06 15:57531664 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 intron_variant -0.157773 0.19273 0.05083 0.099367 0.466898171073885 0.0664093 9.04937499888625e-14 FALSE 4.06537e-06 ENSE00001221244_004 ENSE00001221244 004 15 57823843 57824012 + 45 90 35 A G 57823863 1058 21 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGCTGACTTAACTTGCACTGACC 57531644 57531814 57531664 57531665 57531665 upstr_intron -25 -0.533333333333333 GGTCAGTGCAAGTTAAGTCAGCTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 807 231 0.99880735762657 1 0.999403678813285 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.11102316991982 0.0321891658013852 0.923774816783407 0.927797510952682 NA 0.0716061678606025 NA FALSE NA 0 -0.862 . intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 13/18 rs555833124 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAC A,G 5.765e-05 15:57531665 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 intron_variant -0.239016 0.09754 0.00434 0.099367 0.467181798555606 0.0664093 9.04937499888625e-14 FALSE 4.06547e-05 ENSE00001221244_006 ENSE00001221244 006 15 57823843 57824012 + 45 90 35 C T 57823880 1060 38 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAAGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531681 57531682 57531682 upstr_intron -8 -0.155555555555556 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCTTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 738 159 0.998710334621611 0.999760289887254 0.999235312254432 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.110926146914861 0.0319494556886388 0.923774816783407 0.927797510952682 NA 0.0714378013017499 NA FALSE NA 0.01 0.603 . splice_region_variant&intron_variant LOW CGNL1 HGNC 25931 ENST00000281282 13/18 1 NA CCT C,T 8.237e-06 15:57531682 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 splice_region_variant 0.333785 0.20358 0.00228 0.099367 0.655205322636279 0.16337 9.04937499888625e-14 FALSE 8.12889e-06 ENSE00001221244_007 ENSE00001221244 007 15 57823843 57824012 + 45 90 35 G C 57823887 1061 45 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCGTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531688 57531689 57531689 upstr_intron -1 0 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTACGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant 18 23 0.85 0.85 0.85 266 1001 0.8 0.812008906761745 0.806004453380873 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 -0.0144006256829212 -0.133149007883893 -0.0877841877067498 -0.15580192743687 0.923774816783407 0.927797510952682 -0.0737748167834074 -0.12179305757181 0.0480182407884024 FALSE FALSE 1 8.203 . splice_acceptor_variant HIGH CGNL1 HGNC 25931 ENST00000281282 13/18 1 NA HC AGG G,C 1.647e-05 15:57531689 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 splice_acceptor_variant 4.724053 0.99277 0.98677 0.156188 0.995312511845212 0.985164 9.04937499888625e-14 FALSE 8.12678e-06 ENSE00001221244_009 ENSE00001221244 009 15 57823843 57824012 + 45 90 35 C T 57823915 1063 73 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAATTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531716 57531717 57531717 exon 28 0.311111111111111 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAATTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 21 34 1 0.995319679454877 0.997659839727438 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.11221581229325 0.0275088452562621 0.923774816783407 0.927797510952682 NA 0.0698623287747561 NA FALSE NA 0.99 2.387 . synonymous_variant LOW CGNL1 HGNC 25931 ENST00000281282 14/19 1 NA ACT C,T 8.236e-06 15:57531717 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 synonymous_variant 1.748623 0.97617 0.84685 0.706548 0.761483346253718 0 9.04937499888625e-14 FALSE 4.06322e-06 ENSE00001221244_011 ENSE00001221244 011 15 57823843 57824012 + 45 90 35 G A 57823924 1065 82 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTTTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531725 57531726 57531726 exon 37 0.411111111111111 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAAAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant 11 13 0.981107857452601 0.85 0.915553928726301 518 1056 1 0.997977884541351 0.998988942270676 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 0.11670723176968 -0.133149007883894 0.11221581229325 0.0301670503427366 0.923774816783407 0.927797510952682 -0.00822088805710669 0.0711914313179934 0.0794123193751001 FALSE FALSE 1 8.203 . missense_variant MODERATE CGNL1 HGNC 25931 ENST00000281282 14/19 rs575212763 1 deleterious(0) possibly_damaging(0.861) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGA G,A 8.236e-06 15:57531726 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 missense_variant 7.540441 0.99244 0.98346 0.706548 0.999315121439541 0 9.04937499888625e-14 FALSE 4.062e-06 ENSE00001221244_012 ENSE00001221244 012 15 57823843 57824012 + 45 90 35 C A 57823932 1066 90 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTTTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531733 57531734 57531734 exon 45 0.5 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAAAAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 383 288 1 1 1 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.11221581229325 0.0321891658013852 0.923774816783407 0.927797510952682 NA 0.0722024890473177 NA FALSE NA 0.798 0.107 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:57531734 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 missense_variant 3.770656 0.96942 0.56592 0.706548 0.996190168262896 0 9.04937499888625e-14 FALSE 4.06217e-06 ENSE00001221244_013 ENSE00001221244 013 15 57823843 57824012 + 45 90 35 C T 57823932 1067 90 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTATTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531733 57531734 57531734 exon 45 0.5 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAATAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 356 2153 0.994273597882112 0.999746812877637 0.997010205379875 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.106489410175362 0.0319359786790223 0.923774816783407 0.927797510952682 NA 0.0692126944271922 NA FALSE NA 0.798 0.107 NA NA NA CGNL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CGNL1 NA NA NA ENSG00000128849 ENSE00001221244 synonymous_variant 1.615474 0.96904 0.47091 0.706548 0.796198279491863 0 9.04937499888625e-14 FALSE 4.06217e-06 ENSE00001221244_014 ENSE00001221244 014 15 57823843 57824012 + 45 90 35 G T 57823944 1068 102 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGAAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531745 57531746 57531746 exon -34 0.633333333333333 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTTCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 40 65 0.872684841463444 1 0.936342420731722 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA -0.0150993462433061 0.0321891658013852 0.923774816783407 0.927797510952682 NA 0.00854490977903954 NA FALSE NA 1 1.133 rs139590907 missense_variant MODERATE CGNL1 HGNC 25931 ENST00000281282 14/19 rs139590907 1 tolerated(0.28) possibly_damaging(0.812) NA T:0 T:0.0002 TGC G,T 3.295e-05 15:57531746 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 missense_variant 3.827189 0.9765 0.81712 0.706548 0.998930709898456 0 9.04937499888625e-14 FALSE 2.84368e-05 ENSE00001221244_015 ENSE00001221244 015 15 57823843 57824012 + 45 90 35 T C 57823950 1069 108 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCGGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531751 57531752 57531752 exon -28 0.7 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCCGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 4143 237 0.983062721358574 0.989664198590217 0.986363459974395 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.0952785336518237 0.0218533643916021 0.923774816783407 0.927797510952682 NA 0.0585659490217129 NA FALSE NA 0.417 -0.478 . synonymous_variant LOW CGNL1 HGNC 25931 ENST00000281282 14/19 1 NA CTG T,C 8.236e-06 15:57531752 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 synonymous_variant 0.720088 0.94288 0.4727 0.706548 0.699645131222664 0 9.04937499888625e-14 FALSE 4.06204e-06 ENSE00001221244_018 ENSE00001221244 018 15 57823843 57824012 + 45 90 35 G A 57823972 1072 130 GACAATCCACGCATCATTCACCTATAGAATAGTACCTGTTTCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531773 57531774 57531774 exon -6 0.944444444444444 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGAAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 951 551 0.998825712292805 0.992023195017989 0.995424453655397 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.111041524586055 0.0242123608193743 0.923774816783407 0.927797510952682 NA 0.0676269427027146 NA FALSE NA 1 8.203 . missense_variant MODERATE CGNL1 HGNC 25931 ENST00000281282 14/19 1 deleterious(0) benign(0.062) NA GGA G,A 8.236e-06 15:57531774 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 missense_variant 5.553917 0.99263 0.98346 0.706548 0.99901023285064 0 9.04937499888625e-14 FALSE 4.06253e-06 ENSE00001221244_020 ENSE00001221244 020 15 57823843 57824012 + 45 90 35 C G 57823981 1074 139 GACAATCCACGCATCATTCACCTATAGAATACTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531782 57531783 57531783 downstr_intron 4 1.11764705882353 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTAGTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 91 373 1 1 1 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.11221581229325 0.0321891658013852 0.923774816783407 0.927797510952682 NA 0.0722024890473177 NA FALSE NA 0.067 -0.156 . splice_region_variant&intron_variant LOW CGNL1 HGNC 25931 ENST00000281282 14/18 1 NA ACT C,G 8.236e-06 15:57531783 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 splice_region_variant 1.677343 0.96882 0.08598 0.062308 0.862490948988496 0.396683 9.04937499888625e-14 FALSE 4.0654e-06 ENSE00001221244_021 ENSE00001221244 021 15 57823843 57824012 + 45 90 35 T C 57823997 1075 155 GACAATCCACGCATCGTTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531798 57531799 57531799 downstr_intron 20 1.58823529411765 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAACGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant NA NA NA NA NA 875 1438 1 1 1 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 NA NA 0.11221581229325 0.0321891658013852 0.923774816783407 0.927797510952682 NA 0.0722024890473177 NA FALSE NA 0 -0.016 . intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 14/18 rs544235216 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATG T,C 1.647e-05 15:57531799 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 intron_variant -0.099753 0.13946 0.02018 0.062308 0.550515028726016 0.0640786 9.04937499888625e-14 FALSE 2.03525e-05 ENSE00001221244_022 ENSE00001221244 022 15 57823843 57824012 + 45 90 35 C T 57824002 1076 160 GACAATCCACACATCATTCACCTATAGAATAGTACCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCCTAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 57531803 57531804 57531804 downstr_intron 25 1.73529411764706 GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGTGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC mutant 13 14 0.997104629877178 1 0.998552314938589 233 75 0.999646215907569 0.997885412812295 0.998765814359932 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 0.132704004194257 0.0168509921161065 0.111862028200819 0.0300745786136801 0.923774816783407 0.927797510952682 0.0747774981551817 0.0709683034072495 0.00380919474793218 FALSE FALSE 0 -1.515 . intron_variant MODIFIER CGNL1 HGNC 25931 ENST00000281282 14/18 rs564208390 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C,T 5.765e-05 15:57531804 CGNL1 HGNC Symbol protein_coding 174760 ENSG00000128849 ENSE00001221244 intron_variant -0.190477 0.11563 0.00803 0.062308 0.425551839441138 0.107891 9.04937499888625e-14 FALSE 7.35613e-05 ENSE00001221244_BRK ENSE00001221244 BRK 15 57823843 57824012 + 45 90 35 A,G; T,T NA NA NA GACAATCCACGCATCATTCACCTATAGAATAGTGGCTGTTCCCTGCTCCTACTGATCCTCTCAGACAGCAAATCTGAGTTGTTTCTCTCTTCTTCCAGTTCCATCTCCAGTTGAGACACCTTGTCAAAAGAAGGAAATCACAAACACAGTTGACTTAACTTGCACTGACC 57531644 57531814 NA NA NA NA NA NA GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTTTGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGCCACTATTCTATAGGTGAATGATGCGTGGATTGTC GGTCAGTGCAAGTTAAGTCAACTGTGTTTGTGATTTCCTTCTTAGGACAAGGTGTCTCAACTGGAGATGGAACTGGAAGAAGAGAGAAACAACTCAGATTTGCTGTCTGAGAGGATCAGTAGGAGCAGGGAACAGGTACTATTCTATAGGTGAATGATGCGTGGATTGTC control 35 50 0.85 0.85 0.85 NA NA NA NA NA 0.864400625682921 0.983149007883893 0.88778418770675 0.967810834198615 -0.0144006256829212 -0.133149007883893 NA NA 0.923774816783407 0.927797510952682 -0.0737748167834074 NA NA NA FALSE NA NA NA NA NA CGNL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CGNL1 NA NA NA ENSG00000128849 ENSE00001221244 NA NA NA NA NA NA NA 9.04937499888625e-14 FALSE NA ENSE00001222383_000 ENSE00001222383 000 5 1325819 1325988 - 47 66 57 NA NA NA NA NA TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 NA NA NA NA NA NA TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG natural 438 637 0.861737214643438 0.85 0.855868607321719 1791 2611 0.747433954816283 0.827467928979415 0.787450941897849 0.861737214643438 0.85 0.747433954816283 0.827467928979415 0 0 0 0 0.855868607321719 0.787450941897849 0 0 0 FALSE FALSE NA NA NA NA NA CLPTM1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLPTM1L NA NA NA ENSG00000049656 ENSE00003539907 NA NA NA NA NA NA NA 0.311319339054671 FALSE NA ENSE00001222383_001 ENSE00001222383 001 5 1325819 1325988 - 47 66 57 G A 1325830 102 159 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTTTCTGAAGAGTG 1325703 1325873 1325714 1325715 1325715 downstr_intron 36 1.78260869565217 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTTTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 1021 229 0.839552553098308 0.956760948450343 0.898156750774326 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0921185982820248 0.129293019470929 0.855868607321719 0.787450941897849 NA 0.110705808876477 NA FALSE NA 0 0.141 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/6 1 NA AGA G,A 8.237e-06 5:1325715 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 non_coding_transcript_exon_variant 0.274459 0.41669 0.08288 0.256867 0.744145383604601 0.0540496 0.311319339054671 FALSE 4.0853e-06 ENSE00001222383_002 ENSE00001222383 002 5 1325819 1325988 - 47 66 57 G T 1325833 103 156 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGACTCTCTGAAGAGTG 1325703 1325873 1325717 1325718 1325718 downstr_intron 33 1.71739130434783 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGACTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 458 182 0.86881527082066 0.861248915396574 0.865032093108617 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.121381316004377 0.0337809864171589 0.855868607321719 0.787450941897849 NA 0.0775811512107678 NA FALSE NA 0 -0.811 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/6 1 NA GGC G,T 8.237e-06 5:1325718 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 non_coding_transcript_exon_variant 0.042323 0.43008 0.07865 0.256867 0.800113036276948 0.0540496 0.311319339054671 FALSE 4.07677e-06 ENSE00001222383_003 ENSE00001222383 003 5 1325819 1325988 - 47 66 57 C T 1325834 104 155 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAACCTCTCTGAAGAGTG 1325703 1325873 1325718 1325719 1325719 downstr_intron 32 1.69565217391304 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAACCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 1015 69 0.950836453659237 0.947742746940298 0.949289600299767 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.203402498842954 0.120274817960883 0.855868607321719 0.787450941897849 NA 0.161838658401918 NA FALSE NA 0 -2.386 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/6 1 NA GCT C,T 8.237e-05 5:1325719 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 non_coding_transcript_exon_variant -0.418324 0.07225 0.00459 0.256867 0.400441251474801 0.0540496 0.311319339054671 FALSE 4.07844e-05 ENSE00001222383_005 ENSE00001222383 005 5 1325819 1325988 - 47 66 57 T A 1325842 106 147 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGTACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325726 1325727 1325727 downstr_intron 24 1.52173913043478 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGTACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 105 12 0.8 0.8 0.8 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0525660451837169 -0.0274679289794147 0.855868607321719 0.787450941897849 NA 0.0125490581021511 NA FALSE NA 0 -2.269 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/6 rs200672513 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 TTC T,A 2.471e-05 5:1325727 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 non_coding_transcript_exon_variant 0.155834 0.1004 0.00591 0.256867 0.51798436206434 0.0535699 0.311319339054671 FALSE 1.62798e-05 ENSE00001222383_006 ENSE00001222383 006 5 1325819 1325988 - 47 66 57 G A 1325845 107 144 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGTTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325729 1325730 1325730 downstr_intron 21 1.45652173913043 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGTTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 1320 2970 0.774943468162389 0.946420721405153 0.860682094783771 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0275095133461059 0.118952792425738 0.855868607321719 0.787450941897849 NA 0.0732311528859219 NA FALSE NA 0 0.05 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/6 1 NA AGC G,A 8.236e-06 5:1325730 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 non_coding_transcript_exon_variant -0.061713 0.11312 0.04159 0.256867 0.383218011745862 0.0535699 0.311319339054671 FALSE 2.44091e-05 ENSE00001222383_007 ENSE00001222383 007 5 1325819 1325988 - 47 66 57 A G 1325851 108 138 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGCAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325735 1325736 1325736 downstr_intron 15 1.32608695652174 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGCAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 913 215 0.889128393148254 0.8 0.844564196574127 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.141694438331971 -0.0274679289794147 0.855868607321719 0.787450941897849 NA 0.057113254676278 NA FALSE NA 0.001 -1.353 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/6 rs370696611 1 NA G:0.0002 G:0 TAC A,G 8.236e-06 5:1325736 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 non_coding_transcript_exon_variant -0.286201 0.08874 0.01339 0.256867 0.348327457545579 0.0535699 0.311319339054671 FALSE NA ENSE00001222383_010 ENSE00001222383 010 5 1325819 1325988 - 47 66 57 T A 1325856 111 133 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTTGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325740 1325741 1325741 downstr_intron 10 1.21739130434783 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTTGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 225 31 0.923207350078448 0.95 0.936603675039224 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.175773395262165 0.122532071020585 0.855868607321719 0.787450941897849 NA 0.149152733141375 NA FALSE NA 0.001 0.429 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/6 1 NA CTA T,A 8.236e-06 5:1325741 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 non_coding_transcript_exon_variant -0.169503 0.06936 0.00438 0.256867 0.272221740365571 0.0541779 0.311319339054671 FALSE NA ENSE00001222383_011 ENSE00001222383 011 5 1325819 1325988 - 47 66 57 T A 1325860 112 129 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGTTTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325744 1325745 1325745 downstr_intron 6 1.1304347826087 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGTTTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 77 531 0.948184938276557 0.960292451857401 0.954238695066979 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.200750983460274 0.132824522877987 0.855868607321719 0.787450941897849 NA 0.16678775316913 NA FALSE NA 0 -1.063 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CLPTM1L HGNC 24308 ENST00000508765 5/6 1 NA ATC T,A 8.236e-06 5:1325745 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 splice_region_variant 0.086516 0.15148 0.0544 0.256867 0.358294351222281 0.0899498 0.311319339054671 FALSE 4.06273e-06 ENSE00001222383_012 ENSE00001222383 012 5 1325819 1325988 - 47 66 57 C T 1325874 113 115 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCAAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325758 1325759 1325759 exon -9 0.878787878787879 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCAAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 61 160 0.8 0.8 0.8 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0525660451837169 -0.0274679289794147 0.855868607321719 0.787450941897849 NA 0.0125490581021511 NA FALSE NA 0 -0.225 rs150678949 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/7 rs150678949 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0016 T:0.0009 TCG C,T 0.0008072 5:1325759 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 missense_variant -0.050471 0.17181 0.03981 0.706548 0.358170483280755 0 0.311319339054671 FALSE 0.000885596 ENSE00001222383_014 ENSE00001222383 014 5 1325819 1325988 - 47 66 57 C G 1325878 115 111 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATCCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325762 1325763 1325763 exon -13 0.818181818181818 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATCCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 465 63 0.984442168472006 0.909380286913912 0.946911227692959 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.237008213655723 0.0819123579344972 0.855868607321719 0.787450941897849 NA 0.15946028579511 NA FALSE NA 0 -0.328 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/7 rs375063341 1 NA G:0 G:0.0001 GCA C,G 8.236e-06 5:1325763 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 missense_variant -0.6637 0.56067 0.21073 0.706548 0.401874966259651 0 0.311319339054671 FALSE 4.0618e-06 ENSE00001222383_017 ENSE00001222383 017 5 1325819 1325988 - 47 66 57 A C 1325899 118 90 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACGATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325783 1325784 1325784 exon 33 0.5 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACGATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 455 433 0.994660889430606 0.990500635413245 0.992580762421925 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.247226934614323 0.16303270643383 0.855868607321719 0.787450941897849 NA 0.205129820524076 NA FALSE NA 0 -2.873 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 5/7 1 NA TAG A,C 8.236e-06 5:1325784 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 synonymous_variant -2.266103 0.11765 0.04397 0.706548 0.223529356749283 0 0.311319339054671 FALSE 4.06154e-06 ENSE00001222383_018 ENSE00001222383 018 5 1325819 1325988 - 47 66 57 G A 1325936 119 53 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCTTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325820 1325821 1325821 upstr_intron -5 -0.0701754385964912 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCTTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 280 220 0.8 0.8 0.8 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0525660451837169 -0.0274679289794147 0.855868607321719 0.787450941897849 NA 0.0125490581021511 NA FALSE NA 0 -0.253 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CLPTM1L HGNC 24308 ENST00000508765 4/6 1 NA AGG G,A 8.236e-06 5:1325821 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 splice_region_variant -0.190671 0.14667 0.0665 0.256867 0.393994557106263 0.244854 0.311319339054671 FALSE 4.06385e-06 ENSE00001222383_019 ENSE00001222383 019 5 1325819 1325988 - 47 66 57 G A 1325938 120 51 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCTCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325822 1325823 1325823 upstr_intron -7 -0.105263157894737 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCTCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 256 463 1 0.998338945126934 0.999169472563467 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.252566045183717 0.170871016147519 0.855868607321719 0.787450941897849 NA 0.211718530665618 NA FALSE NA 0 0.093 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CLPTM1L HGNC 24308 ENST00000508765 4/6 1 NA GGG G,A 2.471e-05 5:1325823 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 splice_region_variant 0.021831 0.17412 0.05731 0.256867 0.408879539723117 0.192936 0.311319339054671 FALSE 1.62629e-05 ENSE00001222383_024 ENSE00001222383 024 5 1325819 1325988 - 47 66 57 A G 1325942 125 47 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTCCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325826 1325827 1325827 upstr_intron -11 -0.175438596491228 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTCCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 1080 309 0.00590104238537005 0.00103663749311903 0.00346883993924454 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA -0.741532912430913 -0.826431291486296 0.855868607321719 0.787450941897849 NA -0.783982101958604 NA TRUE NA 0.541 2.851 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 4/6 rs369941710 1 NA GAA A,G 8.236e-06 5:1325827 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 non_coding_transcript_exon_variant 0.04364 0.71996 0.08435 0.256867 0.638311479230409 0.691323 0.311319339054671 FALSE 4.0654e-06 ENSE00001222383_026 ENSE00001222383 026 5 1325819 1325988 - 47 66 57 T C 1325953 127 36 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTGTTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325837 1325838 1325838 upstr_intron -22 -0.368421052631579 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTGTTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 1241 50 0.934625301725281 0.808682340978876 0.871653821352079 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.187191346908998 -0.0187855880005386 0.855868607321719 0.787450941897849 NA 0.0842028794542297 NA FALSE NA 0 -0.09 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 4/6 1 NA ATA T,C 1.647e-05 5:1325838 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 intron_variant -0.023467 0.11184 0.00908 0.256867 0.397066880752522 0.0974983 0.311319339054671 FALSE 8.13822e-06 ENSE00001222383_027 ENSE00001222383 027 5 1325819 1325988 - 47 66 57 T C 1325957 128 32 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGGACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325841 1325842 1325842 upstr_intron -26 -0.43859649122807 TTCGTGGCTCCTGGCCTTCGAATATTAAAGGGACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 48 18 0.8 0.8 0.8 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0525660451837169 -0.0274679289794147 0.855868607321719 0.787450941897849 NA 0.0125490581021511 NA FALSE NA 0 -1.113 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 4/6 1 NA TTC T,C 8.237e-06 5:1325842 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 intron_variant -0.159684 0.11987 0.0305 0.256867 0.385202407942834 0.0974983 0.311319339054671 FALSE 4.07368e-06 ENSE00001222383_028 ENSE00001222383 028 5 1325819 1325988 - 47 66 57 T C 1325960 129 29 TTCGTGGCTCCTGGCCTTCGAATATTAAGGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325844 1325845 1325845 upstr_intron -29 -0.491228070175439 TTCGTGGCTCCTGGCCTTCGAATATTAAGGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 115 323 0.8 0.800782399022588 0.800391199511294 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0525660451837169 -0.0266855299568269 0.855868607321719 0.787450941897849 NA 0.012940257613445 NA FALSE NA 0 -0.892 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 4/6 rs369919745 1 NA C:0.0002 C:0 CTT T,C 8.237e-06 5:1325845 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 intron_variant -0.017668 0.12021 0.04007 0.256867 0.388037050879313 0.153636 0.311319339054671 FALSE NA ENSE00001222383_029 ENSE00001222383 029 5 1325819 1325988 - 47 66 57 T C 1325967 130 22 TTCGTGGCTCCTGGCCTTCGAGTATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325851 1325852 1325852 upstr_intron -36 -0.614035087719298 TTCGTGGCTCCTGGCCTTCGAGTATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 116 784 0.8 0.841363034161697 0.820681517080849 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0525660451837169 0.0138951051822824 0.855868607321719 0.787450941897849 NA 0.0332305751829997 NA FALSE NA 0 -0.283 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 4/6 1 NA ATT T,C 4.118e-05 5:1325852 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 intron_variant -0.238232 0.1252 0.04223 0.256867 0.356197668709719 0.0974983 0.311319339054671 FALSE 4.9e-05 ENSE00001222383_030 ENSE00001222383 030 5 1325819 1325988 - 47 66 57 C T 1325969 131 20 TTCGTGGCTCCTGGCCTTCAAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325853 1325854 1325854 upstr_intron -38 -0.649122807017544 TTCGTGGCTCCTGGCCTTCAAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 2904 441 0.812316713914978 0.8 0.806158356957489 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0648827590986952 -0.0274679289794147 0.855868607321719 0.787450941897849 NA 0.0187074150596402 NA FALSE NA 0 -0.378 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 4/6 rs371385694 1 NA T:0.0002 T:0.0001 TCG C,T 4.118e-05 5:1325854 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 intron_variant 0.13814 0.17377 0.08349 0.256867 0.545937804941306 0.0540496 0.311319339054671 FALSE 2.86441e-05 ENSE00001222383_032 ENSE00001222383 032 5 1325819 1325988 - 47 66 57 G A 1325973 133 16 TTCGTGGCTCCTGGCTTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325857 1325858 1325858 upstr_intron -42 -0.719298245614035 TTCGTGGCTCCTGGCTTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 86 243 0.795905263923807 0.8 0.797952631961904 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.048471309107524 -0.0274679289794147 0.855868607321719 0.787450941897849 NA 0.0105016900640546 NA FALSE NA 0 -0.357 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 4/6 rs374731498 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 AGG G,A 1.647e-05 5:1325858 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 intron_variant 0.414263 0.30313 0.10792 0.256867 0.784889334430149 0.538975 0.311319339054671 FALSE 8.20015e-06 ENSE00001222383_033 ENSE00001222383 033 5 1325819 1325988 - 47 66 57 G A 1325974 134 15 TTCGTGGCTCCTGGTCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 1325858 1325859 1325859 upstr_intron -43 -0.736842105263158 TTCGTGGCTCCTGGTCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG mutant NA NA NA NA NA 156 455 0.8 0.863414492453041 0.831707246226521 0.861737214643438 0.85 0.747433954816283 0.827467928979415 NA NA 0.0525660451837169 0.0359465634736265 0.855868607321719 0.787450941897849 NA 0.0442563043286717 NA FALSE NA 0 0.053 . intron_variant&non_coding_transcript_variant MODIFIER CLPTM1L HGNC 24308 ENST00000508765 4/6 1 NA GGC G,A 1.647e-05 5:1325859 CLPTM1L HGNC Symbol protein_coding 27355 ENSG00000049656 ENSE00003539907 intron_variant 0.210029 0.11275 0.01404 0.256867 0.742387477565034 0.0535699 0.311319339054671 FALSE 1.23196e-05 ENSE00001222383_BRK ENSE00001222383 BRK 5 1325819 1325988 - 47 66 57 A,G; T,T NA NA NA TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCTTCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGCCAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG 1325703 1325873 NA NA NA NA NA NA TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCTTCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGCCAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG TTCGTGGCTCCTGGCCTTCGAATATTAAAGGAACTATTTCCTGATTTCTCCCCTCAGCTGTGGAAAGTGAAGAAGGCATTGAAGATGACTATTTTTTGGAGAGGCCTGATGCCCGAATTTCAGGTAGGATTTAGTTGTAATGGCTGAACCCCAAGCCTCTCTGAAGAGTG control 12 11 0 0 0 366 795 0.012609706347295 0.0620336036844432 0.0373216550158691 0.861737214643438 0.85 0.747433954816283 0.827467928979415 -0.861737214643438 -0.85 -0.734824248468988 -0.765434325294972 0.855868607321719 0.787450941897849 -0.855868607321719 -0.75012928688198 0.105739320439739 TRUE TRUE NA NA NA NA NA CLPTM1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLPTM1L NA NA NA ENSG00000049656 ENSE00003539907 NA NA NA NA NA NA NA 0.311319339054671 FALSE NA ENSE00001222531_000 ENSE00001222531 000 15 72458929 72459098 - 44 72 54 NA NA NA NA NA CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 NA NA NA NA NA NA CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC natural 1028 1517 0.794319803139725 0.836135901852247 0.815227852495986 454 1121 0.782473569200544 0.87912650119453 0.830800035197537 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0 0 0 0 0.815227852495986 0.830800035197537 0 0 0 FALSE FALSE NA NA NA NA NA GRAMD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRAMD2A NA NA NA ENSG00000175318 ENSE00001222531 NA NA NA NA NA NA NA NA NA NA ENSE00001222531_001 ENSE00001222531 001 15 72458929 72459098 - 44 72 54 C T 72458944 1655 155 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGAGAAGTCGCTCAGGCC 72166587 72166757 72166602 72166603 72166603 downstr_intron 29 1.67441860465116 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGAGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 50 100 0.838959073069513 0.85 0.844479536534756 49 397 0.857621192007241 0.843025441788055 0.850323316897648 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.044639269929788 0.0138640981477531 0.0751476228066973 -0.0361010594064751 0.815227852495986 0.830800035197537 0.0292516840387705 0.0195232817001111 0.00972840233865946 FALSE FALSE 0.001 0.307 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA CCC C,T 8.236e-06 15:72166603 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 intron_variant 0.524646 0.22997 0.07931 0.06567 0.81674307393105 0.0826832 NA NA 8.14803e-06 ENSE00001222531_002 ENSE00001222531 002 15 72458929 72459098 - 44 72 54 C G 72458945 1656 154 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCACGGAAGTCGCTCAGGCC 72166587 72166757 72166603 72166604 72166604 downstr_intron 28 1.65116279069767 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCACGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 106 91 0.85 0.85 0.85 327 19 0.962604735034834 1 0.981302367517417 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.0556801968602749 0.0138640981477531 0.18013116583429 0.12087349880547 0.815227852495986 0.830800035197537 0.034772147504014 0.15050233231988 0.115730184815866 FALSE FALSE 0.001 0.673 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA CCT C,G 2.471e-05 15:72166604 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 intron_variant 0.220567 0.25884 0.13004 0.06567 0.704768359701412 0.0826832 NA NA 1.22204e-05 ENSE00001222531_003 ENSE00001222531 003 15 72458929 72459098 - 44 72 54 C T 72458953 1657 146 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGAAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166611 72166612 72166612 downstr_intron 20 1.46511627906977 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGAAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 39 18 0.85 0.85 0.85 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.0556801968602749 0.0138640981477531 NA NA 0.815227852495986 0.830800035197537 0.034772147504014 NA NA NA FALSE 0 -0.223 rs116890791 downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 rs116890791 1 T:0.0020 T:0 T:0.0029 NA T:0 T:0.008 T:0 T:0.0002 T:0.0077 TCC C,T 0.003896 15:72166612 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 intron_variant 0.266611 0.26147 0.05093 0.06567 0.637176717448903 0.0837489 NA NA 0.00371721 ENSE00001222531_005 ENSE00001222531 005 15 72458929 72459098 - 44 72 54 C T 72458959 1659 140 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGAAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166617 72166618 72166618 downstr_intron 14 1.32558139534884 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGAAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 54 13 0.85 0.85 0.85 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.0556801968602749 0.013864098147753 NA NA 0.815227852495986 0.830800035197537 0.034772147504014 NA NA NA FALSE 0.003 0.378 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 rs369057844 1 NA T:0 T:0.0001 TCC C,T 1.647e-05 15:72166618 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 intron_variant 0.213583 0.28424 0.04006 0.06567 0.431970178339816 0.0656782 NA NA 1.22097e-05 ENSE00001222531_006 ENSE00001222531 006 15 72458929 72459098 - 44 72 54 A G 72458963 1660 136 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCCTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166621 72166622 72166622 downstr_intron 10 1.23255813953488 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCCTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 407 719 0.85 0.85 0.85 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.0556801968602749 0.0138640981477531 NA NA 0.815227852495986 0.830800035197537 0.034772147504014 NA NA NA FALSE 0.005 0.166 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA AAG A,G 8.236e-06 15:72166622 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 intron_variant -0.037208 0.23554 0.03145 0.06567 0.411082997310608 0.0748442 NA NA 4.06884e-06 ENSE00001222531_008 ENSE00001222531 008 15 72458929 72459098 - 44 72 54 G A 72458975 1662 124 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTATAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166633 72166634 72166634 exon -3 0.972222222222222 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTATAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 141 192 0 0 0 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 -0.794319803139725 -0.836135901852247 NA NA 0.815227852495986 0.830800035197537 -0.815227852495986 NA NA NA TRUE 1 8.507 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA TGT G,A 8.236e-06 15:72166634 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 stop_gained 11.240727 0.99353 0.98637 0.549168 0.997574279353581 0 NA NA 8.13134e-06 ENSE00001222531_009 ENSE00001222531 009 15 72458929 72459098 - 44 72 54 G A 72458979 1663 120 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCATCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166637 72166638 72166638 exon -7 0.916666666666667 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCATCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 10 11 0.85 0.85 0.85 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.0556801968602749 0.0138640981477531 NA NA 0.815227852495986 0.830800035197537 0.034772147504014 NA NA NA FALSE 1 1.301 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA GGT G,A 8.236e-06 15:72166638 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 synonymous_variant 0.864571 0.97644 0.84262 0.549168 0.576777451825454 0 NA NA 8.13015e-06 ENSE00001222531_010 ENSE00001222531 010 15 72458929 72459098 - 44 72 54 T G 72458980 1664 119 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCCCCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166638 72166639 72166639 exon -8 0.902777777777778 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCCCCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 14 28 0 0 0 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 -0.794319803139725 -0.836135901852247 NA NA 0.815227852495986 0.830800035197537 -0.815227852495986 NA NA NA TRUE 1 6.899 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA GTG T,G 8.236e-06 15:72166639 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 missense_variant 5.788968 0.99167 0.98029 0.549168 0.984705181578886 0 NA NA 4.06527e-06 ENSE00001222531_014 ENSE00001222531 014 15 72458929 72459098 - 44 72 54 C T 72459033 1668 66 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTATCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166691 72166692 72166692 exon 12 0.166666666666667 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTATCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant NA NA NA NA NA 137 672 0.817500296534275 0.8 0.808750148267137 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 NA NA 0.0350267273337309 -0.0791265011945304 0.815227852495986 0.830800035197537 NA -0.0220498869303997 NA FALSE NA 0.977 0.491 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA ACA C,T 8.236e-06 15:72166692 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 synonymous_variant 1.799461 0.97427 0.77179 0.516011 0.768302652978577 0 NA NA NA ENSE00001222531_015 ENSE00001222531 015 15 72458929 72459098 - 44 72 54 C T 72459035 1669 64 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTATGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166693 72166694 72166694 exon 10 0.138888888888889 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTATGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 24 66 0.85 0.85 0.85 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.0556801968602749 0.0138640981477531 NA NA 0.815227852495986 0.830800035197537 0.034772147504014 NA NA NA FALSE 1 6.713 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 rs369970839 1 NA T:0 T:0.0001 ACA C,T 4.118e-05 15:72166694 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 missense_variant 6.623958 0.99488 0.98325 0.516011 0.998720421301775 0 NA NA 2.44337e-05 ENSE00001222531_016 ENSE00001222531 016 15 72458929 72459098 - 44 72 54 G A 72459039 1670 60 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATTTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166697 72166698 72166698 exon 6 0.0833333333333333 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATTTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 132 78 0.00994433912912802 0.0167728495377921 0.0133585943334601 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 -0.784375464010597 -0.819363052314455 NA NA 0.815227852495986 0.830800035197537 -0.801869258162526 NA NA NA TRUE 0.93 -0.433 rs147866419 downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 rs147866419 1 NA A:0 A:0.0012 AGA G,A 0.0003953 15:72166698 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 synonymous_variant 1.66946 0.96157 0.54196 0.516011 0.768286639514558 0 NA NA 0.00046048 ENSE00001222531_018 ENSE00001222531 018 15 72458929 72459098 - 44 72 54 A G 72459052 1672 47 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCACGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166710 72166711 72166711 upstr_intron -8 -0.12962962962963 CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCACGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 49 79 0.0266016107984811 0 0.0133008053992405 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 -0.767718192341244 -0.836135901852247 NA NA 0.815227852495986 0.830800035197537 -0.801927047096745 NA NA NA TRUE 0 0.368 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA CAT A,G 8.236e-06 15:72166711 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 splice_region_variant 0.943877 0.2229 0.13167 0.053691 0.758714616564348 0.480093 NA NA 4.08217e-06 ENSE00001222531_021 ENSE00001222531 021 15 72458929 72459098 - 44 72 54 G A 72459078 1675 21 CAGCAAGGAGTCTCATCTCATCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166736 72166737 72166737 upstr_intron -34 -0.611111111111111 CAGCAAGGAGTCTCATCTCATCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 219 251 0.847493079812324 0.85 0.848746539906162 229 347 0.917787163532527 0.883566038107654 0.900676600820091 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.0531732766725992 0.0138640981477531 0.135313594331984 0.00443953691312393 0.815227852495986 0.830800035197537 0.0335186874101762 0.0698765656225537 0.0363578782123776 FALSE FALSE 0.494 2.246 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA GGT G,A 8.237e-06 15:72166737 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 intron_variant 0.331822 0.31882 0.41156 0.080785 0.432972217161283 0.571127 NA NA 8.25525e-06 ENSE00001222531_022 ENSE00001222531 022 15 72458929 72459098 - 44 72 54 A G 72459088 1676 11 CAGCAAGGAGCCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 72166746 72166747 72166747 upstr_intron -44 -0.796296296296296 CAGCAAGGAGCCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC mutant 194 232 0.85 0.85 0.85 NA NA NA NA NA 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 0.0556801968602749 0.0138640981477531 NA NA 0.815227852495986 0.830800035197537 0.034772147504014 NA NA NA FALSE 0 -0.134 . downstream_gene_variant MODIFIER GRAMD2 HGNC 27287 ENST00000563133 1 NA GAC A,G 3.295e-05 15:72166747 GRAMD2A HGNC Symbol protein_coding 37978 ENSG00000175318 ENSE00001222531 intron_variant 0.313244 0.22026 0.00712 0.080785 0.822188230050201 0.0683812 NA NA 3.32986e-05 ENSE00001222531_BRK ENSE00001222531 BRK 15 72458929 72459098 - 44 72 54 A,G; T,T NA NA NA CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCTTTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGCCATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC 72166587 72166757 NA NA NA NA NA NA CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCTTTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGCCATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC CAGCAAGGAGTCTCATCTCACCCTACCCCTGTCTGTTTTCTTTCCATGTCCCAGTATATCTTTGTGTCACTGCTCTCCCGGGACAGTGTATATGACCTGCTGAGGAGAGTCTGCACCCACCTACAGGTATGGAGCTTGGGAGCAGGAAGGCCAGGGAAGTCGCTCAGGCC control NA NA NA NA NA 219 497 0 0 0 0.794319803139725 0.836135901852247 0.782473569200544 0.87912650119453 NA NA -0.782473569200544 -0.87912650119453 0.815227852495986 0.830800035197537 NA -0.830800035197537 NA TRUE NA NA NA NA NA NA GRAMD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRAMD2A NA NA NA ENSG00000175318 ENSE00001222531 NA NA NA NA NA NA NA NA NA NA ENSE00001224222_000 ENSE00001224222 000 12 82828399 82828568 + 75 30 65 NA NA NA NA NA ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT 82434619 82434789 NA NA NA NA NA NA ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT natural NA NA NA NA NA 801 1904 0.998658103918751 0.958590111286567 0.978624107602659 NA NA 0.998658103918751 0.958590111286567 NA NA 0 0 NA 0.978624107602659 NA 0 NA FALSE NA NA NA NA NA NA METTL25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL25 NA NA NA ENSG00000127720 ENSE00003621319 NA NA NA NA NA NA NA 1.64825272550087e-07 FALSE NA ENSE00001224222_001 ENSE00001224222 001 12 82828399 82828568 + 75 30 65 C G 82828433 2530 35 ACTCTTATACAGTGTGTTTATAAATCTTATAAGAGTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT 82434619 82434789 82434653 82434654 82434654 upstr_intron -41 -0.533333333333333 ACTCTTATACAGTGTGTTTATAAATCTTATAAGAGTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT mutant NA NA NA NA NA 13 26 0.8 1 0.9 NA NA 0.998658103918751 0.958590111286567 NA NA -0.198658103918751 0.041409888713433 NA 0.978624107602659 NA -0.0786241076026591 NA FALSE NA 1 2.076 . intron_variant MODIFIER METTL25 HGNC 26228 ENST00000550298 3/4 rs201493319 1 NA ACT C,G 8.249e-06 12:82434654 METTL25 HGNC Symbol protein_coding 120739 ENSG00000127720 ENSE00003621319 intron_variant 1.024038 0.97188 0.8117 0.078448 0.536061645630865 0.755598 1.64825272550087e-07 FALSE 6.45644e-06 ENSE00001224222_005 ENSE00001224222 005 12 82828399 82828568 + 75 30 65 G A 82828452 2534 54 ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTATCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT 82434619 82434789 82434672 82434673 82434673 upstr_intron -22 -0.28 ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTATCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT mutant NA NA NA NA NA 938 44 0.998320774174339 1 0.999160387087169 NA NA 0.998658103918751 0.958590111286567 NA NA -0.000337329744412584 0.041409888713433 NA 0.978624107602659 NA 0.0205362794845102 NA FALSE NA 1 1.694 NA NA NA METTL25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:82434673 METTL25 HGNC Symbol protein_coding 120739 ENSG00000127720 ENSE00003621319 intron_variant 0.155066 0.81151 0.75699 0.078448 0.550266755685391 0.0848534 1.64825272550087e-07 FALSE 2.04526e-05 ENSE00001224222_016 ENSE00001224222 016 12 82828399 82828568 + 75 30 65 A G 82828530 2545 132 ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACGCGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT 82434619 82434789 82434750 82434751 82434751 downstr_intron 27 1.421875 ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACGCGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT mutant NA NA NA NA NA 218 11 1 1 1 NA NA 0.998658103918751 0.958590111286567 NA NA 0.00134189608124879 0.041409888713433 NA 0.978624107602659 NA 0.0213758923973409 NA FALSE NA 0 0.514 . intron_variant MODIFIER METTL25 HGNC 26228 ENST00000550298 4/4 1 NA CAC A,G 8.24e-06 12:82434751 METTL25 HGNC Symbol protein_coding 120739 ENSG00000127720 ENSE00003621319 intron_variant -0.10023 0.20224 0.04088 0.053691 0.387443115197643 0.0682693 1.64825272550087e-07 FALSE 8.1888e-06 ENSE00001224222_019 ENSE00001224222 019 12 82828399 82828568 + 75 30 65 A C 82828548 2548 150 ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCACGTACTCTTCATACTTGACCT 82434619 82434789 82434768 82434769 82434769 downstr_intron 45 1.703125 ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCACGTACTCTTCATACTTGACCT ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT mutant NA NA NA NA NA 24 132 1 0.998799979748756 0.999399989874378 NA NA 0.998658103918751 0.958590111286567 NA NA 0.00134189608124879 0.0402098684621893 NA 0.978624107602659 NA 0.0207758822717191 NA FALSE NA 0.161 3.665 . intron_variant MODIFIER METTL25 HGNC 26228 ENST00000550298 4/4 1 NA AAG A,C 2.472e-05 12:82434769 METTL25 HGNC Symbol protein_coding 120739 ENSG00000127720 ENSE00003621319 intron_variant 0.133567 0.32416 0.37382 0.078448 0.402755352983524 0.892625 1.64825272550087e-07 FALSE 1.64391e-05 ENSE00001224222_BRK ENSE00001224222 BRK 12 82828399 82828568 + 75 30 65 A,G; T,T NA NA NA ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTATTGCATTGGAGCGGGTTGCAGCTGGCCAAGGGCCAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT 82434619 82434789 NA NA NA NA NA NA ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTATTGCATTGGAGCGGGTTGCAGCTGGCCAAGGGCCAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT ACTCTTATACAGTGTGTTTATAAATCTTATAAGACTCAATATATCAACAATCTGTCTTGTTTTTTTCCCTTTAAGGCATTGGAGCGGGTTGCAGCTGGCCAAGGGGTAAGTAAGAGTGTTAACTGATGAACACGACAGTTTTTCTCTCAAGTACTCTTCATACTTGACCT control NA NA NA NA NA 126 941 0 0 0 NA NA 0.998658103918751 0.958590111286567 NA NA -0.998658103918751 -0.958590111286567 NA 0.978624107602659 NA -0.978624107602659 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL25 NA NA NA ENSG00000127720 ENSE00003621319 NA NA NA NA NA NA NA 1.64825272550087e-07 FALSE NA ENSE00001224729_000 ENSE00001224729 000 4 170428156 170428325 - 32 96 42 NA NA NA NA NA AACCAGGATTAAGAATATGAGCTAAATCTTACATGCTCTTCCCACACTTTTTTTTCTCTCTCATAAGCCTCCTTTCTCTTTCGTTCTAGTTGTTCTTTTAGTACAGCAGCACGTGCATTTGCATGGGCCTAAAAATAAAAACAATTAACAAAATGAGTTACCAGAAAGAA 169507004 169507174 NA NA NA NA NA NA TTCTTTCTGGTAACTCATTTTGTTAATTGTTTTTATTTTTAGGCCCATGCAAATGCACGTGCTGCTGTACTAAAAGAACAACTAGAACGAAAGAGAAAGGAGGCTTATGAGAGAGAAAAAAAAGTGTGGGAAGAGCATGTAAGATTTAGCTCATATTCTTAATCCTGGTT TTCTTTCTGGTAACTCATTTTGTTAATTGTTTTTATTTTTAGGCCCATGCAAATGCACGTGCTGCTGTACTAAAAGAACAACTAGAACGAAAGAGAAAGGAGGCTTATGAGAGAGAAAAAAAAGTGTGGGAAGAGCATGTAAGATTTAGCTCATATTCTTAATCCTGGTT natural NA NA NA NA NA 1041 776 0.916694246194747 0.957820035361901 0.937257140778324 NA NA 0.916694246194747 0.957820035361901 NA NA 0 0 NA 0.937257140778324 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEK1 NA NA NA ENSG00000137601 ENSE00001224729 NA NA NA NA NA NA NA 4.21851213590427e-12 FALSE NA ENSE00001224729_009 ENSE00001224729 009 4 170428156 170428325 - 32 96 42 C G 170428241 1633 85 AACCAGGATTAAGAATATGAGCTAAATCTTACATGCTCTTCCCACACTTTTTTTTCTCTCTCATAAGCCTCCTTTCTCTTTCGTTGTAGTTGTTCTTTTAGTACAGCAGCACGTGCATTTGCATGGGCCTAAAAATAAAAACAATTAACAAAATGAGTTACCAGAAAGAA 169507004 169507174 169507089 169507090 169507090 exon 43 0.447916666666667 TTCTTTCTGGTAACTCATTTTGTTAATTGTTTTTATTTTTAGGCCCATGCAAATGCACGTGCTGCTGTACTAAAAGAACAACTACAACGAAAGAGAAAGGAGGCTTATGAGAGAGAAAAAAAAGTGTGGGAAGAGCATGTAAGATTTAGCTCATATTCTTAATCCTGGTT TTCTTTCTGGTAACTCATTTTGTTAATTGTTTTTATTTTTAGGCCCATGCAAATGCACGTGCTGCTGTACTAAAAGAACAACTAGAACGAAAGAGAAAGGAGGCTTATGAGAGAGAAAAAAAAGTGTGGGAAGAGCATGTAAGATTTAGCTCATATTCTTAATCCTGGTT mutant NA NA NA NA NA 86 47 1 0.855742371169639 0.92787118558482 NA NA 0.916694246194747 0.957820035361901 NA NA 0.0833057538052528 -0.102077664192262 NA 0.937257140778324 NA -0.00938595519350449 NA FALSE NA 1 5.804 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:169507090 NEK1 HGNC Symbol protein_coding 219772 ENSG00000137601 ENSE00001224729 missense_variant 5.141693 0.99072 0.97638 0.638212 0.99755154359711 0 4.21851213590427e-12 FALSE 5.34579e-05 ENSE00001225843_000 ENSE00001225843 000 11 26734141 26734310 - 47 66 57 NA NA NA NA NA TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 NA NA NA NA NA NA TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG natural NA NA NA NA NA 1002 398 0.987326944634464 0.991049651525523 0.989188298079994 NA NA 0.987326944634464 0.991049651525523 NA NA 0 0 NA 0.989188298079994 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A12 NA NA NA ENSG00000148942 ENSE00003577823 NA NA NA NA NA NA NA 2.14726778576519e-05 FALSE NA ENSE00001225843_001 ENSE00001225843 001 11 26734141 26734310 - 47 66 57 T A 26734177 861 134 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCTTGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712629 26712630 26712630 downstr_intron 11 1.23913043478261 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCTTGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 50 376 1 1 1 NA NA 0.987326944634464 0.991049651525523 NA NA 0.0126730553655361 0.00895034847447695 NA 0.989188298079994 NA 0.0108117019200065 NA FALSE NA 0.004 0.506 NA NA NA SLC5A12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:26712630 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 intron_variant 2.316956 0.2055 0.01493 0.061011 0.853301203718134 0.242051 2.14726778576519e-05 FALSE 4.12793e-06 ENSE00001225843_003 ENSE00001225843 003 11 26734141 26734310 - 47 66 57 C A 26734181 863 130 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTTGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712633 26712634 26712634 downstr_intron 7 1.15217391304348 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTTGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 100 382 0.999587738064546 1 0.999793869032273 NA NA 0.987326944634464 0.991049651525523 NA NA 0.0122607934300818 0.00895034847447695 NA 0.989188298079994 NA 0.0106055709522794 NA FALSE NA 0 -1.546 . splice_region_variant&intron_variant LOW SLC5A12 HGNC 28750 ENST00000280467 2/8 1 NA CCA C,A 4.942e-05 11:26712634 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 splice_region_variant 1.701356 0.24483 0.01694 0.061011 0.836577890276403 0.259098 2.14726778576519e-05 FALSE 6.1897e-05 ENSE00001225843_008 ENSE00001225843 008 11 26734141 26734310 - 47 66 57 A G 26734198 868 113 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACACTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712650 26712651 26712651 exon -11 0.848484848484849 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACACTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 79 21 0.985029688676792 1 0.992514844338396 NA NA 0.987326944634464 0.991049651525523 NA NA -0.00229725595767161 0.00895034847447695 NA 0.989188298079994 NA 0.00332654625840267 NA FALSE NA 1 8.885 . missense_variant MODERATE SLC5A12 HGNC 28750 ENST00000280467 2/9 1 deleterious(0.02) probably_damaging(0.998) NA AAT A,G 8.236e-06 11:26712651 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 missense_variant 6.122687 0.99348 0.99315 0.553676 0.989247296164613 0 2.14726778576519e-05 FALSE NA ENSE00001225843_009 ENSE00001225843 009 11 26734141 26734310 - 47 66 57 G A 26734200 869 111 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTATATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712652 26712653 26712653 exon -13 0.818181818181818 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTATATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 50 1158 1 0.999169533011639 0.99958476650582 NA NA 0.987326944634464 0.991049651525523 NA NA 0.0126730553655361 0.0081198814861162 NA 0.989188298079994 NA 0.0103964684258261 NA FALSE NA 1 4.487 . synonymous_variant LOW SLC5A12 HGNC 28750 ENST00000280467 2/9 1 NA TGT G,A 1.647e-05 11:26712653 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 synonymous_variant 0.757813 0.99511 0.97693 0.553676 0.603010049581451 0 2.14726778576519e-05 FALSE 1.62807e-05 ENSE00001225843_011 ENSE00001225843 011 11 26734141 26734310 - 47 66 57 A C 26734215 871 96 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCGGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712667 26712668 26712668 exon -28 0.590909090909091 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCGGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 121 31 1 0.95 0.975 NA NA 0.987326944634464 0.991049651525523 NA NA 0.0126730553655361 -0.0410496515255231 NA 0.989188298079994 NA -0.0141882980799935 NA FALSE NA 0.005 -0.866 rs138842617 synonymous_variant LOW SLC5A12 HGNC 28750 ENST00000280467 2/9 rs138842617 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0002 CAG A,C 0.0001318 11:26712668 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 synonymous_variant 0.396072 0.92022 0.13532 0.553676 0.689130593441408 0 2.14726778576519e-05 FALSE 0.000109855 ENSE00001225843_012 ENSE00001225843 012 11 26734141 26734310 - 47 66 57 G A 26734216 872 95 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGTTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712668 26712669 26712669 exon -29 0.575757575757576 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGTTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 196 360 0.990481859608611 1 0.995240929804305 NA NA 0.987326944634464 0.991049651525523 NA NA 0.00315491497414688 0.00895034847447695 NA 0.989188298079994 NA 0.00605263172431192 NA FALSE NA 0.472 3.05 . missense_variant MODERATE SLC5A12 HGNC 28750 ENST00000280467 2/9 1 tolerated(0.16) benign(0.035) NA AGC G,A 1.647e-05 11:26712669 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 missense_variant 2.623321 0.96902 0.80264 0.553676 0.995774919840101 0 2.14726778576519e-05 FALSE 1.2208e-05 ENSE00001225843_015 ENSE00001225843 015 11 26734141 26734310 - 47 66 57 C A 26734222 875 89 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCTCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712674 26712675 26712675 exon 32 0.484848484848485 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCTCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 245 231 1 1 1 NA NA 0.987326944634464 0.991049651525523 NA NA 0.0126730553655361 0.00895034847447695 NA 0.989188298079994 NA 0.0108117019200065 NA FALSE NA 1 7.446 NA NA NA SLC5A12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:26712675 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 missense_variant 8.122181 0.9952 0.99099 0.553676 0.998780701904115 0 2.14726778576519e-05 FALSE 3.25592e-05 ENSE00001225843_022 ENSE00001225843 022 11 26734141 26734310 - 47 66 57 C G 26734264 882 47 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTCTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712716 26712717 26712717 upstr_intron -11 -0.175438596491228 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTCTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 249 80 1 1 1 NA NA 0.987326944634464 0.991049651525523 NA NA 0.0126730553655361 0.00895034847447695 NA 0.989188298079994 NA 0.0108117019200065 NA FALSE NA 0.661 0.2 . intron_variant MODIFIER SLC5A12 HGNC 28750 ENST00000280467 1/8 1 NA ACA C,G 8.236e-06 11:26712717 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 intron_variant 0.985489 0.23601 0.05977 0.061011 0.61907239006053 0.276189 2.14726778576519e-05 FALSE 4.07701e-06 ENSE00001225843_026 ENSE00001225843 026 11 26734141 26734310 - 47 66 57 A C 26734273 886 38 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCAGGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712725 26712726 26712726 upstr_intron -20 -0.333333333333333 TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCAGGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 137 84 0.990949766129303 0.978390814616805 0.984670290373054 NA NA 0.987326944634464 0.991049651525523 NA NA 0.00362282149483895 -0.0126588369087182 NA 0.989188298079994 NA -0.00451800770693961 NA FALSE NA 0 0.654 . intron_variant MODIFIER SLC5A12 HGNC 28750 ENST00000280467 1/8 1 NA CAT A,C 5.766e-05 11:26712726 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 intron_variant 1.461425 0.26124 0.10735 0.061011 0.829211814877501 0.165233 2.14726778576519e-05 FALSE 0.000101978 ENSE00001225843_029 ENSE00001225843 029 11 26734141 26734310 - 47 66 57 G A 26734289 889 22 TCTTAGCAGTTCTTATCTAAATCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG 26712593 26712763 26712741 26712742 26712742 upstr_intron -36 -0.614035087719298 TCTTAGCAGTTCTTATCTAAATCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG TCTTAGCAGTTCTTATCTAAACCTCACTGACTCTGCATGTCTTTCTGTTTCCTTTAGTACTTACAACTACGATTCAACAAACCAGTTCGCTATGCTGCCACGGTCATCTACATTGTACAGACGGTAAGTGGTCATGGCTGCTGCAGATGTGGAAACTGTGAGGTTACTAG mutant NA NA NA NA NA 419 1504 0.994329570402545 0.999894831393552 0.997112200898049 NA NA 0.987326944634464 0.991049651525523 NA NA 0.00700262576808153 0.00884517986802869 NA 0.989188298079994 NA 0.00792390281805511 NA FALSE NA 0 -0.889 . intron_variant MODIFIER SLC5A12 HGNC 28750 ENST00000280467 1/8 rs201141175 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 GGT G,A 8.237e-05 11:26712742 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003577823 intron_variant 0.562315 0.09492 0.013 0.061011 0.846323246985255 0.164086 2.14726778576519e-05 FALSE 6.55576e-05 ENSE00001225970_000 ENSE00001225970 000 17 131523 131692 - 36 87 47 NA NA NA NA NA ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 NA NA NA NA NA NA GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT natural 17 39 0.938286754802551 0.977609379923367 0.957948067362959 253 338 0.998855771031903 0.991080183951005 0.994967977491454 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 0 0 0 0 0.957948067362959 0.994967977491454 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPH3AL NA NA NA ENSG00000181031 ENSE00003783325 NA NA NA NA NA NA NA 5.10573723225223e-10 FALSE NA ENSE00001225970_001 ENSE00001225970 001 17 131523 131692 - 36 87 47 C T 131539 1 154 ACTCAGCCCTCCCCACTGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281747 281748 281748 downstr_intron 20 1.57142857142857 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACAGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant NA NA NA NA NA 128 175 0.931774590477228 0.948753861491393 0.94026422598431 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 NA NA -0.0670811805546747 -0.042326322459612 0.957948067362959 0.994967977491454 NA -0.0547037515071433 NA FALSE NA 0 -1.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:281748 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 intron_variant -0.131715 0.0573 0.00062 0.053691 0.606084466031253 0.0497634 5.10573723225223e-10 FALSE 1.22407e-05 ENSE00001225970_002 ENSE00001225970 002 17 131523 131692 - 36 87 47 C A 131539 2 154 ACTCAGCCCTCCCCACAGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281747 281748 281748 downstr_intron 20 1.57142857142857 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACTGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant NA NA NA NA NA 12 130 1 0.999116901719851 0.999558450859925 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 NA NA 0.00114422896809685 0.00803671776884629 0.957948067362959 0.994967977491454 NA 0.00459047336847157 NA FALSE NA 0 -1.39 NA NA NA RPH3AL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPH3AL NA NA NA ENSG00000181031 ENSE00003783325 intron_variant -0.046474 0.09367 0.00282 0.053691 0.635005674492576 0.0497634 5.10573723225223e-10 FALSE 1.22407e-05 ENSE00001225970_009 ENSE00001225970 009 17 131523 131692 - 36 87 47 C G 131572 9 121 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCAGTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281780 281781 281781 exon -14 0.850574712643678 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCACTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant NA NA NA NA NA 15 82 1 1 1 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 NA NA 0.00114422896809685 0.0089198160489955 0.957948067362959 0.994967977491454 NA 0.00503202250854617 NA FALSE NA 1 5.536 . intron_variant MODIFIER RPH3AL HGNC 10296 ENST00000536489 4/7 1 NA ACT C,G 8.236e-06 17:281781 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 missense_variant 5.083925 0.9858 0.92478 0.615465 0.992455146134514 0 5.10573723225223e-10 FALSE 4.06352e-06 ENSE00001225970_011 ENSE00001225970 011 17 131523 131692 - 36 87 47 T A 131579 11 114 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGAACTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281787 281788 281788 exon -21 0.770114942528736 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGTTCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant 33 11 0.85 0.962188492121558 0.906094246060779 NA NA NA NA NA 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 -0.0882867548025508 -0.0154208878018094 NA NA 0.957948067362959 0.994967977491454 -0.0518538213021801 NA NA NA FALSE 1 5.69 . intron_variant MODIFIER RPH3AL HGNC 10296 ENST00000536489 4/7 1 NA ATC T,A 8.236e-06 17:281788 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 missense_variant 6.332047 0.98236 0.90651 0.615465 0.98772836446648 0 5.10573723225223e-10 FALSE NA ENSE00001225970_015 ENSE00001225970 015 17 131523 131692 - 36 87 47 G A 131600 15 93 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCACTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281808 281809 281809 exon -42 0.528735632183908 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGTGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant NA NA NA NA NA 31 146 1 0.998651970604393 0.999325985302197 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 NA NA 0.00114422896809685 0.00757178665338865 0.957948067362959 0.994967977491454 NA 0.00435800781074275 NA FALSE NA 1 2.341 . intron_variant MODIFIER RPH3AL HGNC 10296 ENST00000536489 4/7 1 NA CGC G,A 1.647e-05 17:281809 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 missense_variant 7.037427 0.97093 0.772 0.615465 0.999115146787647 0 5.10573723225223e-10 FALSE 2.0313e-05 ENSE00001225970_017 ENSE00001225970 017 17 131523 131692 - 36 87 47 T G 131605 17 88 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCGGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281813 281814 281814 exon 41 0.471264367816092 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCCGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant 15 42 0.950573216702114 0.939601931257192 0.945087573979653 NA NA NA NA NA 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 0.0122864618995636 -0.0380074486661756 NA NA 0.957948067362959 0.994967977491454 -0.012860493383306 NA NA NA FALSE 1 5.69 . intron_variant MODIFIER RPH3AL HGNC 10296 ENST00000536489 4/7 1 NA CTG T,G 8.236e-06 17:281814 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 missense_variant 5.558262 0.98292 0.9114 0.615465 0.985153794857393 0 5.10573723225223e-10 FALSE 4.06263e-06 ENSE00001225970_022 ENSE00001225970 022 17 131523 131692 - 36 87 47 G A 131622 22 71 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCAATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281830 281831 281831 exon 24 0.275862068965517 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATTGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant 54 43 0.85 0.85 0.85 10 187 0.95 0.953454934646555 0.951727467323277 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 -0.0882867548025507 -0.127609379923368 -0.0488557710319031 -0.03762524930445 0.957948067362959 0.994967977491454 -0.107948067362959 -0.0432405101681765 0.0647075571947826 FALSE FALSE 1 0.275 rs140211107 intron_variant MODIFIER RPH3AL HGNC 10296 ENST00000536489 4/7 1 NA CGA G,A 2.471e-05 17:281831 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 synonymous_variant 1.6787 0.94952 0.5053 0.615465 0.802794086785941 0 5.10573723225223e-10 FALSE 2.03178e-05 ENSE00001225970_023 ENSE00001225970 023 17 131523 131692 - 36 87 47 C T 131629 23 64 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCATATTTGGTGCAGACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281837 281838 281838 exon 17 0.195402298850575 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATATGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant NA NA NA NA NA 37 51 0.873758908640982 1 0.936879454320491 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 NA NA -0.125096862390921 0.0089198160489955 0.957948067362959 0.994967977491454 NA -0.0580885231709626 NA FALSE NA 1 5.534 rs143446798 intron_variant MODIFIER RPH3AL HGNC 10296 ENST00000536489 4/7 1 NA ACA C,T 8.236e-06 17:281838 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 missense_variant 6.425784 0.98545 0.89978 0.615465 0.997631312742354 0 5.10573723225223e-10 FALSE 4.06355e-06 ENSE00001225970_024 ENSE00001225970 024 17 131523 131692 - 36 87 47 G T 131640 24 53 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCATACTTTCTACAAGAGAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281848 281849 281849 exon 6 0.0689655172413793 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTATGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant 30 26 0.908432921362745 0.85 0.879216460681373 NA NA NA NA NA 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 -0.0298538334398053 -0.127609379923368 NA NA 0.957948067362959 0.994967977491454 -0.0787316066815865 NA NA NA FALSE 1 1.129 . intron_variant MODIFIER RPH3AL HGNC 10296 ENST00000536489 4/7 1 NA AGA G,T 8.236e-06 17:281849 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 synonymous_variant 0.713964 0.97788 0.70169 0.615465 0.821060927956778 0 5.10573723225223e-10 FALSE 4.06461e-06 ENSE00001225970_026 ENSE00001225970 026 17 131523 131692 - 36 87 47 G C 131654 26 39 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGACAGAGGACATGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281862 281863 281863 upstr_intron -9 -0.170212765957447 GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTGTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant 56 163 0.85 0.85 0.85 116 467 0.95 0.933053287950864 0.941526643975432 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 -0.0882867548025507 -0.127609379923368 -0.0488557710319031 -0.0580268960001402 0.957948067362959 0.994967977491454 -0.107948067362959 -0.0534413335160216 0.0545067338469374 FALSE FALSE 1 2.454 . intron_variant MODIFIER RPH3AL HGNC 10296 ENST00000536489 4/7 1 NA AGA G,C 8.237e-06 17:281863 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 intron_variant 0.815092 0.96356 0.8717 0.053691 0.613235919633597 0.368554 5.10573723225223e-10 FALSE 8.13716e-06 ENSE00001225970_027 ENSE00001225970 027 17 131523 131692 - 36 87 47 A G 131662 27 31 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACGTGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281870 281871 281871 upstr_intron -17 -0.340425531914894 GAGGAAGCGGCTGCAATCTTTACAACCCCACGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant NA NA NA NA NA 98 235 0.939976644082913 0.939561417061013 0.939769030571963 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 NA NA -0.0588791269489897 -0.0515187668899911 0.957948067362959 0.994967977491454 NA -0.0551989469194904 NA FALSE NA 0.922 2.999 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:281871 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 intron_variant 0.083181 0.2328 0.22575 0.053691 0.789926389860158 0.096942 5.10573723225223e-10 FALSE 8.142e-06 ENSE00001225970_028 ENSE00001225970 028 17 131523 131692 - 36 87 47 A T 131662 28 31 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACTTGGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281870 281871 281871 upstr_intron -17 -0.340425531914894 GAGGAAGCGGCTGCAATCTTTACAACCCCAAGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant 23 41 0 0 0 NA NA NA NA NA 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 -0.938286754802551 -0.977609379923367 NA NA 0.957948067362959 0.994967977491454 -0.957948067362959 NA NA NA TRUE 0.922 2.999 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPH3AL NA NA NA ENSG00000181031 ENSE00003783325 intron_variant -0.06571 0.23942 0.64883 0.053691 0.842811690060503 0.096942 5.10573723225223e-10 FALSE 4.071e-06 ENSE00001225970_029 ENSE00001225970 029 17 131523 131692 - 36 87 47 G A 131664 29 29 ACTCAGCCCTCCCCACCGTCACCCTGGACGCCCTACCTCTCTTTGCTCACTGCAGATCTTACACAGCCACAGGGGCCGCTTCTGGCCAGGGGAGGCCTCGATCCCACATTTGGTGCAGACTTTCTACAAGAGAGAGGACATAGGGTTGTAAAGATTGCAGCCGCTTCCTC 281731 281901 281872 281873 281873 upstr_intron -19 -0.382978723404255 GAGGAAGCGGCTGCAATCTTTACAACCCTATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT GAGGAAGCGGCTGCAATCTTTACAACCCCATGTCCTCTCTCTTGTAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATCTGCAGTGAGCAAAGAGAGGTAGGGCGTCCAGGGTGACGGTGGGGAGGGCTGAGT mutant 15 16 0.993227958422782 0.995109300986468 0.994168629704625 543 11 0.997165742461328 1 0.998582871230664 0.938286754802551 0.977609379923367 0.998855771031903 0.991080183951005 0.054941203620231 0.0174999210631008 -0.00169002857057499 0.0089198160489955 0.957948067362959 0.994967977491454 0.0362205623416659 0.00361489373921026 0.0326056686024557 FALSE FALSE 0 -0.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:281873 RPH3AL HGNC Symbol protein_coding 173865 ENSG00000181031 ENSE00003783325 intron_variant -0.389697 0.12526 0.00149 0.053691 0.794075240946731 0.046875 5.10573723225223e-10 FALSE 0.0112471 ENSE00001226038_000 ENSE00001226038 000 17 56590178 56590347 - 35 90 45 NA NA NA NA NA AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 NA NA NA NA NA NA GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT natural 130 353 0.594446284967416 0.657675040453946 0.626060662710681 999 806 0.875200362497041 0.89893145516793 0.887065908832486 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 0 0 0 0 0.626060662710681 0.887065908832486 0 0 0 FALSE FALSE NA NA NA NA NA MTMR4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR4 NA NA NA ENSG00000108389 ENSE00003615678 NA NA NA NA NA NA NA 0.997305474235374 TRUE NA ENSE00001226038_001 ENSE00001226038 001 17 56590178 56590347 - 35 90 45 C G 56590197 2733 151 AGCCCCATCTATCCTGGCCGCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512835 58512836 58512836 downstr_intron 16 1.47058823529412 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGCGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant 61 25 0.0214153315363497 0 0.0107076657681748 14 100 0.8 0.82324017228384 0.81162008614192 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 -0.573030953431066 -0.657675040453946 -0.0752003624970413 -0.0756912828840903 0.626060662710681 0.887065908832486 -0.615352996942506 -0.0754458226905658 0.53990717425194 FALSE TRUE 0 0.376 . intron_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/3 1 NA CCC C,G 8.236e-06 17:58512836 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 intron_variant 1.142358 0.24783 0.17844 0.12324 0.72115619745208 0.163789 0.997305474235374 TRUE 4.09994e-06 ENSE00001226038_002 ENSE00001226038 002 17 56590178 56590347 - 35 90 45 A G 56590201 2734 147 AGCCCCATCTATCCTGGCCCCCAGCTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512839 58512840 58512840 downstr_intron 12 1.35294117647059 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGCTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 66 262 0.8 0.879299739677032 0.839649869838516 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA -0.0752003624970413 -0.0196317154908987 0.626060662710681 0.887065908832486 NA -0.04741603899397 NA FALSE NA 0 -0.575 rs143047217 intron_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/3 rs143047217 1 G:0.0046 G:0.0106 G:0.0058 NA G:0 G:0.004 G:0.001 G:0.0073 G:0.0064 AAC A,G 0.00439 17:58512840 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 intron_variant 1.318179 0.1817 0.02436 0.12324 0.793325429046159 0.163939 0.997305474235374 TRUE 0.00406901 ENSE00001226038_003 ENSE00001226038 003 17 56590178 56590347 - 35 90 45 C T 56590205 2735 143 AGCCCCATCTATCCTGGCCCCCAACTCTTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512843 58512844 58512844 downstr_intron 8 1.23529411764706 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAAGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant 144 190 0 0 0 34 57 0.8 0.8 0.8 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 -0.594446284967416 -0.657675040453946 -0.0752003624970413 -0.0989314551679304 0.626060662710681 0.887065908832486 -0.626060662710681 -0.0870659088324859 0.538994753878195 FALSE TRUE 0 -0.194 . splice_region_variant&intron_variant LOW MTMR4 HGNC 7452 ENST00000583243 2/3 1 NA CCT C,T 1.647e-05 17:58512844 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 splice_region_variant 1.676607 0.37197 0.06669 0.12324 0.628051184802151 0.388197 0.997305474235374 TRUE 8.1813e-06 ENSE00001226038_005 ENSE00001226038 005 17 56590178 56590347 - 35 90 45 A G 56590238 2737 110 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTGGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512876 58512877 58512877 exon -26 0.722222222222222 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACCAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 235 105 1 1 1 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA 0.124799637502959 0.10106854483207 0.626060662710681 0.887065908832486 NA 0.112934091167514 NA FALSE NA 1 6.916 . 5_prime_UTR_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/4 1 NA TAG A,G 8.236e-06 17:58512877 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 missense_variant 4.615028 0.98166 0.97246 0.722319 0.946601773549123 0 0.997305474235374 TRUE 4.09517e-06 ENSE00001226038_006 ENSE00001226038 006 17 56590178 56590347 - 35 90 45 C G 56590242 2738 106 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTGCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512880 58512881 58512881 exon -30 0.677777777777778 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGCAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 147 55 0.807646074493512 0.80525735889602 0.806451716694766 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA -0.0675542880035294 -0.0936740962719101 0.626060662710681 0.887065908832486 NA -0.0806141921377198 NA FALSE NA 1 5.576 . 5_prime_UTR_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/4 1 NA TCC C,G 3.295e-05 17:58512881 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 missense_variant 3.611143 0.98647 0.98382 0.722319 0.96003897574893 0 0.997305474235374 TRUE 1.22573e-05 ENSE00001226038_007 ENSE00001226038 007 17 56590178 56590347 - 35 90 45 G C 56590247 2739 101 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGCGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512885 58512886 58512886 exon -35 0.622222222222222 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCGCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant 25 30 0.942511798207051 0.85 0.896255899103526 23 1086 0.95 0.950072199787521 0.95003609989376 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 0.348065513239635 0.192324959546054 0.0747996375029585 0.0511407446195904 0.626060662710681 0.887065908832486 0.270195236392845 0.0629701910612744 0.20722504533157 FALSE FALSE 1 2.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:58512886 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 missense_variant 0.769879 0.97548 0.95148 0.722319 0.884049289990168 0 0.997305474235374 TRUE 3.68315e-05 ENSE00001226038_008 ENSE00001226038 008 17 56590178 56590347 - 35 90 45 G A 56590247 2740 101 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGAGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512885 58512886 58512886 exon -35 0.622222222222222 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCTCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 180 93 0.85836535520253 0.938304497515994 0.898334926359262 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA -0.0168350072945109 0.0393730423480634 0.626060662710681 0.887065908832486 NA 0.0112690175267762 NA FALSE NA 1 2.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003615678 missense_variant 3.805516 0.97495 0.9462 0.722319 0.88417554303454 0 0.000257274838666869 FALSE 4.09239e-06 ENSE00001226038_009 ENSE00001226038 009 17 56590178 56590347 - 35 90 45 G T 56590247 2741 101 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGTGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512885 58512886 58512886 exon -35 0.622222222222222 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCACAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant 15 91 0.812572161707284 0.88719020772572 0.849881184716502 40 112 0.95 0.996882027964924 0.973441013982462 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 0.218125876739867 0.229515167271774 0.0747996375029587 0.0979505727969934 0.626060662710681 0.887065908832486 0.223820522005821 0.086375105149976 0.137445416855845 FALSE FALSE 1 2.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR4 NA NA NA ENSG00000108389 ENSE00003615678 missense_variant 1.995751 0.97295 0.85203 0.722319 0.910687811056617 0 0.997305474235374 TRUE 2.45543e-05 ENSE00001226038_011 ENSE00001226038 011 17 56590178 56590347 - 35 90 45 G T 56590248 2743 100 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGTGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512886 58512887 58512887 exon -36 0.611111111111111 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCACCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant 21 164 0.85 0.85 0.85 301 1360 0.849383681061347 0.983366428030022 0.916375054545685 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 0.255553715032584 0.192324959546054 -0.025816681435694 0.0844349728620918 0.626060662710681 0.887065908832486 0.223939337289319 0.0293091457131989 0.19463019157612 FALSE FALSE 1 7.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:58512887 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 missense_variant 3.623831 0.98567 0.97849 0.722319 0.907386126070936 0 0.997305474235374 TRUE 4.49942e-05 ENSE00001226038_012 ENSE00001226038 012 17 56590178 56590347 - 35 90 45 G C 56590248 2744 100 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGCGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512886 58512887 58512887 exon -36 0.611111111111111 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCGCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 751 143 0.994502880810872 0.994480361841607 0.99449162132624 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA 0.11930251831383 0.0955489066736769 0.626060662710681 0.887065908832486 NA 0.107425712493754 NA FALSE NA 1 7.37 NA NA NA MTMR4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR4 NA NA NA ENSG00000108389 ENSE00003615678 missense_variant 2.962391 0.98648 0.98698 0.722319 0.902944217985111 0 0.997305474235374 TRUE 1.63615e-05 ENSE00001226038_013 ENSE00001226038 013 17 56590178 56590347 - 35 90 45 G A 56590249 2745 99 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGAGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512887 58512888 58512888 exon -37 0.6 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCTCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 1313 233 0.804377754710645 0.918151340605201 0.861264547657923 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA -0.0708226077863966 0.0192198854372702 0.626060662710681 0.887065908832486 NA -0.0258013611745632 NA FALSE NA 1 1.257 . 5_prime_UTR_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/4 1 NA GGG G,A 8.236e-06 17:58512888 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 synonymous_variant 1.138121 0.97618 0.93485 0.722319 0.742048132549948 0 0.997305474235374 TRUE 4.09413e-06 ENSE00001226038_014 ENSE00001226038 014 17 56590178 56590347 - 35 90 45 G A 56590281 2746 67 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAAGCTGGGGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512919 58512920 58512920 exon 22 0.244444444444444 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCTTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant 53 186 0 0 0 NA NA NA NA NA 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 -0.594446284967416 -0.657675040453946 NA NA 0.626060662710681 0.887065908832486 -0.626060662710681 NA NA NA TRUE 1 5.868 . 5_prime_UTR_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/4 1 NA AGG G,A 8.236e-06 17:58512920 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 synonymous_variant 1.006835 0.98545 0.96689 0.627647 0.790748850652345 0 0.997305474235374 TRUE 1.6539e-05 ENSE00001226038_015 ENSE00001226038 015 17 56590178 56590347 - 35 90 45 G C 56590287 2747 61 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGCGGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512925 58512926 58512926 exon 16 0.177777777777778 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCGCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 271 115 0.988192089620072 0.990249191241423 0.989220640430748 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA 0.112991727123031 0.0913177360734923 0.626060662710681 0.887065908832486 NA 0.102154731598262 NA FALSE NA 1 6.227 . 5_prime_UTR_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/4 rs376613301 1 NA C:0 C:0.0001 GGG G,C 8.236e-06 17:58512926 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 missense_variant 3.593527 0.98636 0.9926 0.627647 0.9301336742456 0 0.997305474235374 TRUE 4.12596e-06 ENSE00001226038_016 ENSE00001226038 016 17 56590178 56590347 - 35 90 45 G T 56590288 2748 60 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGTGGCCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512926 58512927 58512927 exon 15 0.166666666666667 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCACCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 47 156 0.951286637319945 0.959102841513782 0.955194739416863 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA 0.0760862748229038 0.0601713863458513 0.626060662710681 0.887065908832486 NA 0.0681288305843775 NA FALSE NA 1 0.549 . 5_prime_UTR_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/4 1 NA GGG G,T 3.295e-05 17:58512927 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 synonymous_variant 0.813899 0.96702 0.94399 0.627647 0.744275958343119 0 0.997305474235374 TRUE 1.65173e-05 ENSE00001226038_017 ENSE00001226038 017 17 56590178 56590347 - 35 90 45 C T 56590291 2749 57 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGTCCCTCCTCACCCTGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512929 58512930 58512930 exon 12 0.133333333333333 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGACCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 78 37 0.989523978565473 0.901363440856752 0.945443709711113 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA 0.114323616068432 0.00243198568882164 0.626060662710681 0.887065908832486 NA 0.0583778008786267 NA FALSE NA 0.993 0.257 . 5_prime_UTR_variant MODIFIER MTMR4 HGNC 7452 ENST00000583243 2/4 1 NA GCC C,T 8.236e-06 17:58512930 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 synonymous_variant 1.740707 0.96179 0.91841 0.627647 0.647711932410314 0 0.997305474235374 TRUE 4.12705e-06 ENSE00001226038_018 ENSE00001226038 018 17 56590178 56590347 - 35 90 45 T C 56590306 2750 42 AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTACCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCCTGCAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 58512944 58512945 58512945 upstr_intron -4 -0.0666666666666667 GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTGCAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT mutant NA NA NA NA NA 12 55 0.8 0.836221568616177 0.818110784308088 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 NA NA -0.0752003624970413 -0.0627098865517536 0.626060662710681 0.887065908832486 NA -0.0689551245243974 NA FALSE NA 0.239 -0.232 . splice_region_variant&intron_variant LOW MTMR4 HGNC 7452 ENST00000583243 1/3 1 NA GTA T,C 1.647e-05 17:58512945 MTMR4 HGNC Symbol protein_coding 28376 ENSG00000108389 ENSE00003615678 splice_region_variant 1.394576 0.68941 0.07735 0.078958 0.853758304631632 0.425953 0.997305474235374 TRUE 2.88322e-05 ENSE00001226038_BRK ENSE00001226038 BRK 17 56590178 56590347 - 35 90 45 A,G; T,T NA NA NA AGCCCCATCTATCCTGGCCCCCAACTCCTCCTTGGCTGAAGATTCTCTTCCTCCTTCACTAGTTCCTTGGGGGGGAACAGATCCTTGGCTTGGATGTACTCCAGGCTGGGGGGCCCCTCCTCACCAAGTAGGAAGGCCACAGTCCTAAGTCACCAAGCTCCACTTAGCCC 58512816 58512986 NA NA NA NA NA NA GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACTTGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGCCAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT GGGCTAAGTGGAGCTTGGTGACTTAGGACTGTGGCCTTCCTACAGGGTGAGGAGGGGCCCCCCAGCCTGGAGTACATCCAAGCCAAGGATCTGTTCCCCCCCAAGGAACTAGTGAAGGAGGAAGAGAATCTTCAGGTAAGGAGGAGTTGGGGGCCAGGATAGATGGGGCT control 85 45 0 0 0 NA NA NA NA NA 0.594446284967416 0.657675040453946 0.875200362497041 0.89893145516793 -0.594446284967416 -0.657675040453946 NA NA 0.626060662710681 0.887065908832486 -0.626060662710681 NA NA NA TRUE NA NA NA NA NA MTMR4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR4 NA NA NA ENSG00000108389 ENSE00003615678 NA NA NA NA NA NA NA 0.997305474235374 TRUE NA ENSE00001226388_000 ENSE00001226388 000 9 133339436 133339605 + 62 57 51 NA NA NA NA NA CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT 130464048 130464218 NA NA NA NA NA NA CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT natural 108 372 0.78107550309063 0.829210551880193 0.805143027485411 688 146 0.818261835076758 0.822265785174643 0.8202638101257 0.78107550309063 0.829210551880193 0.818261835076758 0.822265785174643 0 0 0 0 0.805143027485411 0.8202638101257 0 0 0 FALSE FALSE NA NA NA NA NA ASS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASS1 NA NA NA ENSG00000130707 ENSE00003463692 NA NA NA NA NA NA NA 0.000493337976371257 FALSE NA ENSE00001226388_011 ENSE00001226388 011 9 133339436 133339605 + 62 57 51 G T 133339540 3133 105 CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGTCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT 130464048 130464218 130464152 130464153 130464153 exon -15 0.754385964912281 CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGTCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT mutant NA NA NA NA NA 29 18 0.8 0.8 0.8 0.78107550309063 0.829210551880193 0.818261835076758 0.822265785174643 NA NA -0.018261835076758 -0.0222657851746428 0.805143027485411 0.8202638101257 NA -0.0202638101257004 NA FALSE NA 1 4.83 . missense_variant MODERATE ASS1 HGNC 758 ENST00000372394 6/16 1 tolerated(0.4) benign(0.018) NA GGC G,T 4.118e-05 9:130464153 ASS1 HGNC Symbol protein_coding 56345 ENSG00000130707 ENSE00003463692 missense_variant 2.304079 0.93839 0.6615 0.706298 0.963154748848331 0 0.000493337976371257 FALSE 2.03057e-05 ENSE00001226388_015 ENSE00001226388 015 9 133339436 133339605 + 62 57 51 C T 133339545 3137 110 CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCTCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT 130464048 130464218 130464157 130464158 130464158 exon -10 0.842105263157895 CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCTCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT mutant NA NA NA NA NA 687 26 0.807013733878475 0.8 0.803506866939237 0.78107550309063 0.829210551880193 0.818261835076758 0.822265785174643 NA NA -0.0112481011982835 -0.0222657851746428 0.805143027485411 0.8202638101257 NA -0.0167569431864631 NA FALSE NA 0.939 0.027 rs139250536 synonymous_variant LOW ASS1 HGNC 758 ENST00000372394 6/16 rs139250536 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 CCC C,T 0.0001977 9:130464158 ASS1 HGNC Symbol protein_coding 56345 ENSG00000130707 ENSE00003463692 synonymous_variant 1.844906 0.90229 0.47473 0.706298 0.587188210751023 0 0.000493337976371257 FALSE 0.000158372 ENSE00001226388_017 ENSE00001226388 017 9 133339436 133339605 + 62 57 51 G A 133339564 3139 129 CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTAGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT 130464048 130464218 130464176 130464177 130464177 downstr_intron 10 1.2 CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTAGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT mutant NA NA NA NA NA 72 51 0.8 0.8 0.8 0.78107550309063 0.829210551880193 0.818261835076758 0.822265785174643 NA NA -0.018261835076758 -0.0222657851746428 0.805143027485411 0.8202638101257 NA -0.0202638101257004 NA FALSE NA 0.001 -0.194 . intron_variant MODIFIER ASS1 HGNC 758 ENST00000372394 6/15 rs200414640 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGG G,A 8.236e-06 9:130464177 ASS1 HGNC Symbol protein_coding 56345 ENSG00000130707 ENSE00003463692 intron_variant 0.740259 0.23632 0.04126 0.053691 0.731209385975394 0.0930642 0.000493337976371257 FALSE 4.06114e-06 ENSE00001226388_BRK ENSE00001226388 BRK 9 133339436 133339605 + 62 57 51 A,G; T,T NA NA NA CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCTTGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGCCAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT 130464048 130464218 NA NA NA NA NA NA CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCTTGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGCCAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT CTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCT control 120 24 0 0 0 NA NA NA NA NA 0.78107550309063 0.829210551880193 0.818261835076758 0.822265785174643 -0.78107550309063 -0.829210551880193 NA NA 0.805143027485411 0.8202638101257 -0.805143027485411 NA NA NA TRUE NA NA NA NA NA ASS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASS1 NA NA NA ENSG00000130707 ENSE00003463692 NA NA NA NA NA NA NA 0.000493337976371257 FALSE NA ENSE00001229401_000 ENSE00001229401 000 15 85464170 85464339 + 50 81 39 NA NA NA NA NA TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 NA NA NA NA NA NA TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG natural 177 343 0.85 0.85 0.85 839 820 0.915650238727283 0.826133658967066 0.870891948847174 0.85 0.85 0.915650238727283 0.826133658967066 0 0 0 0 0.85 0.870891948847174 0 0 0 FALSE FALSE NA NA NA NA NA SLC28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A1 NA NA NA ENSG00000156222 ENSE00001229401 NA NA NA NA NA NA NA 6.34799091474105e-07 FALSE NA ENSE00001229401_001 ENSE00001229401 001 15 85464170 85464339 + 50 81 39 A G 85464197 2367 28 TCTGGGGTTTGCTGATGTCAGCCCACAGAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84920965 84920966 84920966 upstr_intron -23 -0.44 TCTGGGGTTTGCTGATGTCAGCCCACAGAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 320 184 0.815238118290266 0.8 0.807619059145133 0.85 0.85 0.915650238727283 0.826133658967066 NA NA -0.100412120437017 -0.0261336589670659 0.85 0.870891948847174 NA -0.0632728897020413 NA FALSE NA 0.001 1.847 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 10/12 1 NA AAA A,G 8.236e-06 15:84920966 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 intron_variant 0.087447 0.25699 0.10681 0.084033 0.716996346824346 0.0616993 6.34799091474105e-07 FALSE 8.12638e-06 ENSE00001229401_003 ENSE00001229401 003 15 85464170 85464339 + 50 81 39 T C 85464233 2369 64 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGACGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921001 84921002 84921002 exon 14 0.172839506172839 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGACGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 58 519 0 0.0415464810724417 0.0207732405362209 0.85 0.85 0.915650238727283 0.826133658967066 NA NA -0.915650238727283 -0.784587177894624 0.85 0.870891948847174 NA -0.850118708310954 NA TRUE NA 1 7.217 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 11/13 1 benign(0.314) NA ATG T,C 8.236e-06 15:84921002 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 missense_variant 5.3285 0.98751 0.96284 0.554377 0.992366382867682 0 6.34799091474105e-07 FALSE 4.06118e-06 ENSE00001229401_004 ENSE00001229401 004 15 85464170 85464339 + 50 81 39 G C 85464248 2370 79 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGCCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921016 84921017 84921017 exon 29 0.358024691358025 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGCCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant 10 12 0.85 0.85 0.85 2360 93 0.800535655396467 0.781544586675834 0.791040121036151 0.85 0.85 0.915650238727283 0.826133658967066 0 0 -0.115114583330815 -0.0445890722912323 0.85 0.870891948847174 0 -0.0798518278110239 0.0798518278110239 FALSE FALSE 1 4.907 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:84921017 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 missense_variant 4.095956 0.98072 0.95014 0.554377 0.963034565285 0 6.34799091474105e-07 FALSE NA ENSE00001229401_005 ENSE00001229401 005 15 85464170 85464339 + 50 81 39 G T 85464248 2371 79 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGTCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921016 84921017 84921017 exon 29 0.358024691358025 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGTCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 43 13 0.99279431259035 0.95 0.971397156295175 0.85 0.85 0.915650238727283 0.826133658967066 NA NA 0.0771440738630671 0.123866341032934 0.85 0.870891948847174 NA 0.100505207448001 NA FALSE NA 1 4.907 NA NA NA SLC28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A1 NA NA NA ENSG00000156222 ENSE00001229401 missense_variant 4.917767 0.98037 0.94581 0.554377 0.99308517366144 0 6.34799091474105e-07 FALSE NA ENSE00001229401_006 ENSE00001229401 006 15 85464170 85464339 + 50 81 39 C T 85464254 2372 85 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCATAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921022 84921023 84921023 exon 35 0.432098765432099 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCATAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 204 1479 0.952646764822185 0.912520315218416 0.9325835400203 0.85 0.85 0.915650238727283 0.826133658967066 NA NA 0.0369965260949018 0.0863866562513498 0.85 0.870891948847174 NA 0.0616915911731258 NA FALSE NA 0.843 3.436 rs191099985 missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 11/13 rs191099985 1 benign(0.183) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 ACA C,T 0.0001977 15:84921023 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 missense_variant 5.721137 0.97862 0.5201 0.554377 0.996950998706309 0 6.34799091474105e-07 FALSE 0.00012995 ENSE00001229401_007 ENSE00001229401 007 15 85464170 85464339 + 50 81 39 C T 85464257 2373 88 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGTCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921025 84921026 84921026 exon 38 0.469135802469136 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGTCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 376 254 0.90674039711594 0.937556150289494 0.922148273702717 0.85 0.85 0.915650238727283 0.826133658967066 NA NA -0.00890984161134256 0.111422491322428 0.85 0.870891948847174 NA 0.0512563248555429 NA FALSE NA 1 7.018 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 11/13 1 benign(0.178) NA GCC C,T 8.236e-06 15:84921026 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 missense_variant 5.882911 0.99031 0.9658 0.554377 0.998705949814978 0 6.34799091474105e-07 FALSE 1.21828e-05 ENSE00001229401_008 ENSE00001229401 008 15 85464170 85464339 + 50 81 39 C G 85464267 2374 98 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACGCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921035 84921036 84921036 exon -34 0.592592592592593 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACGCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 655 938 0.973522895768823 0.948831858802862 0.961177377285842 0.85 0.85 0.915650238727283 0.826133658967066 NA NA 0.05787265704154 0.122698199835796 0.85 0.870891948847174 NA 0.0902854284386678 NA FALSE NA 0.418 -0.304 . synonymous_variant LOW SLC28A1 HGNC 11001 ENST00000537703 11/13 1 NA CCC C,G 8.236e-06 15:84921036 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 synonymous_variant 1.640432 0.96934 0.42981 0.554377 0.733894019958726 0 6.34799091474105e-07 FALSE 1.21827e-05 ENSE00001229401_009 ENSE00001229401 009 15 85464170 85464339 + 50 81 39 G A 85464272 2375 103 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAATGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921040 84921041 84921041 exon -29 0.654320987654321 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAATGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 24 134 0.81073980476995 0.920602288298794 0.865671046534372 0.85 0.85 0.915650238727283 0.826133658967066 NA NA -0.104910433957333 0.0944686293317283 0.85 0.870891948847174 NA -0.00522090231280248 NA FALSE NA 1 4.602 rs142718320 missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 11/13 rs142718320 1 benign(0.199) NA A:0.0005 A:0 AGT G,A 8.236e-06 15:84921041 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 missense_variant 4.095515 0.96344 0.87695 0.554377 0.984031681850458 0 6.34799091474105e-07 FALSE 4.06075e-06 ENSE00001229401_011 ENSE00001229401 011 15 85464170 85464339 + 50 81 39 G A 85464280 2377 111 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTAGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921048 84921049 84921049 exon -21 0.753086419753086 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTAGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 1497 517 0.850390816032619 0.814928667377842 0.83265974170523 0.85 0.85 0.915650238727283 0.826133658967066 NA NA -0.0652594226946641 -0.0112049915892242 0.85 0.870891948847174 NA -0.0382322071419441 NA FALSE NA 1 7.011 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 11/13 1 probably_damaging(0.996) NA TGG G,A 8.236e-06 15:84921049 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 missense_variant 6.291431 0.98438 0.95334 0.554377 0.999035673641446 0 6.34799091474105e-07 FALSE 4.06108e-06 ENSE00001229401_012 ENSE00001229401 012 15 85464170 85464339 + 50 81 39 G A 85464281 2378 112 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGAAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921049 84921050 84921050 exon -20 0.765432098765432 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGAAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 254 103 0.970657161113833 0.998461422197477 0.984559291655655 0.85 0.85 0.915650238727283 0.826133658967066 NA NA 0.0550069223865502 0.172327763230411 0.85 0.870891948847174 NA 0.113667342808481 NA FALSE NA 1 8.822 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 11/13 1 probably_damaging(0.992) NA GGA G,A 8.236e-06 15:84921050 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 missense_variant 6.638026 0.99052 0.97877 0.554377 0.996905790228467 0 6.34799091474105e-07 FALSE 4.06101e-06 ENSE00001229401_013 ENSE00001229401 013 15 85464170 85464339 + 50 81 39 C T 85464285 2379 116 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAATATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921053 84921054 84921054 exon -16 0.814814814814815 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAATATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 229 412 0.0637812678815986 0.0168097242064228 0.0402954960440107 0.85 0.85 0.915650238727283 0.826133658967066 NA NA -0.851868970845684 -0.809323934760643 0.85 0.870891948847174 NA -0.830596452803164 NA TRUE NA 1 1.366 . synonymous_variant LOW SLC28A1 HGNC 11001 ENST00000537703 11/13 1 NA ACA C,T 8.236e-06 15:84921054 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 synonymous_variant 1.480637 0.97617 0.70347 0.554377 0.734785146471192 0 6.34799091474105e-07 FALSE 4.06108e-06 ENSE00001229401_015 ENSE00001229401 015 15 85464170 85464339 + 50 81 39 G A 85464301 2381 132 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGATGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921069 84921070 84921070 downstr_intron 1 1.02631578947368 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGATGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant 84 34 0 0 0 NA NA NA NA NA 0.85 0.85 0.915650238727283 0.826133658967066 -0.85 -0.85 NA NA 0.85 0.870891948847174 -0.85 NA NA NA TRUE 1 8.822 . splice_donor_variant HIGH SLC28A1 HGNC 11001 ENST00000537703 11/12 1 NA HC GGT G,A 8.236e-06 15:84921070 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 splice_donor_variant 5.366194 0.99052 0.97877 0.06567 0.995081362221467 0.982461 6.34799091474105e-07 FALSE 1.62462e-05 ENSE00001229401_016 ENSE00001229401 016 15 85464170 85464339 + 50 81 39 G A 85464303 2382 134 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTAGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921071 84921072 84921072 downstr_intron 3 1.07894736842105 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTAGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 299 493 1 0.990771829886535 0.995385914943267 0.85 0.85 0.915650238727283 0.826133658967066 NA NA 0.0843497612727171 0.164638170919469 0.85 0.870891948847174 NA 0.124493966096093 NA FALSE NA 0.974 0.653 . splice_region_variant&intron_variant LOW SLC28A1 HGNC 11001 ENST00000537703 11/12 1 NA TGG G,A 1.647e-05 15:84921072 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 splice_region_variant 0.318607 0.18195 0.0855 0.06567 0.607345963777839 0.430321 6.34799091474105e-07 FALSE 8.12414e-06 ENSE00001229401_017 ENSE00001229401 017 15 85464170 85464339 + 50 81 39 G T 85464305 2383 136 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGTTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG 84920938 84921108 84921073 84921074 84921074 downstr_intron 5 1.13157894736842 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGTTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 2252 1570 0 0.0095346871121645 0.00476734355608225 0.85 0.85 0.915650238727283 0.826133658967066 NA NA -0.915650238727283 -0.816598971854901 0.85 0.870891948847174 NA -0.866124605291092 NA TRUE NA 1 6.952 . splice_region_variant&intron_variant LOW SLC28A1 HGNC 11001 ENST00000537703 11/12 1 NA GGT G,T 1.647e-05 15:84921074 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 splice_region_variant 0.704288 0.74649 0.96463 0.06567 0.74999903915497 0.952835 6.34799091474105e-07 FALSE 8.1242e-06 ENSE00001229401_018 ENSE00001229401 018 15 85464170 85464339 + 50 81 39 C G 85464325 2384 156 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTGATGCTCATCAGCAG 84920938 84921108 84921093 84921094 84921094 downstr_intron 25 1.65789473684211 TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTGATGCTCATCAGCAG TCTGGGGTTTGCTGATGTCAGCCCACAAAGAACATTCTGCTTCCTTCTAGATTGCCTGGCTGATGCAAGTCACCATGGGCACCACAGCCACTGAGACCCTGAGTGTGGCTGGAAACATCTTTGTGAGCCAGGTGGGTATGGAAGCCTCCTACCCTCATGCTCATCAGCAG mutant NA NA NA NA NA 203 52 0.942355151362701 0.926167583080867 0.934261367221784 0.85 0.85 0.915650238727283 0.826133658967066 NA NA 0.0267049126354182 0.100033924113801 0.85 0.870891948847174 NA 0.0633694183746097 NA FALSE NA 0.001 0.11 rs17215954 intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 11/12 rs17215954 1 G:0.0078 G:0.028 G:0.0029 NA G:0 G:0 G:0 G:0.0182 G:0.0001 TCA C,G 0.00182 15:84921094 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229401 intron_variant -0.11935 0.17892 0.10736 0.06567 0.63466449550774 0.0512815 6.34799091474105e-07 FALSE 0.00150934 ENSE00001229410_000 ENSE00001229410 000 15 85461705 85461874 + 50 81 39 NA NA NA NA NA TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 NA NA NA NA NA NA TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT natural 136 72 0.868933922255633 0.949964194014018 0.909449058134826 2719 1705 0.891505656154442 0.994168538816843 0.942837097485642 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 0 0 0 0 0.909449058134826 0.942837097485642 0 0 0 FALSE FALSE NA NA NA NA NA SLC28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A1 NA NA NA ENSG00000156222 ENSE00001229410 NA NA NA NA NA NA NA 6.34799091474105e-07 FALSE NA ENSE00001229410_001 ENSE00001229410 001 15 85461705 85461874 + 50 81 39 C T 85461715 2332 11 TGCATCCTGCTTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918483 84918484 84918484 upstr_intron -40 -0.78 TGCATCCTGCTTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 366 74 0.812865809285868 1 0.906432904642934 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA -0.0786398468685734 0.00583146118315714 0.909449058134826 0.942837097485642 NA -0.0364041928427081 NA FALSE NA 0 -0.181 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 9/12 1 NA CCT C,T 8.236e-06 15:84918484 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant 0.596179 0.74606 0.06389 0.053691 0.737954367579115 0.635721 6.34799091474105e-07 FALSE 8.13087e-06 ENSE00001229410_002 ENSE00001229410 002 15 85461705 85461874 + 50 81 39 C T 85461726 2333 22 TGCATCCTGCCTGCCTCTAACTTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918494 84918495 84918495 upstr_intron -29 -0.56 TGCATCCTGCCTGCCTCTAACTTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 122 605 0.98588595963441 0.996670493268627 0.991278226451519 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.094380303479968 0.00250195445178436 0.909449058134826 0.942837097485642 NA 0.0484411289658762 NA FALSE NA 0.008 0.753 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 9/12 1 NA CCT C,T 8.236e-06 15:84918495 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant 0.314996 0.26363 0.06115 0.065574 0.74886578937527 0.0840473 6.34799091474105e-07 FALSE 4.06339e-06 ENSE00001229410_003 ENSE00001229410 003 15 85461705 85461874 + 50 81 39 C A 85461729 2334 25 TGCATCCTGCCTGCCTCTAACCTGAGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918497 84918498 84918498 upstr_intron -26 -0.5 TGCATCCTGCCTGCCTCTAACCTGAGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 52 21 0.839386644308555 0.85 0.844693322154278 338 543 0.921176857149403 0.800465559342741 0.860821208246072 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.029547277947078 -0.0999641940140185 0.0296712009949611 -0.193702979474102 0.909449058134826 0.942837097485642 -0.0647557359805482 -0.0820158892395705 0.0172601532590222 FALSE FALSE 0 -0.441 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 9/12 1 NA GCG C,A 8.236e-06 15:84918498 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant -0.092414 0.13713 0.00425 0.065574 0.536237294560479 0.0840473 6.34799091474105e-07 FALSE 1.21914e-05 ENSE00001229410_004 ENSE00001229410 004 15 85461705 85461874 + 50 81 39 G C 85461730 2335 26 TGCATCCTGCCTGCCTCTAACCTGCCGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918498 84918499 84918499 upstr_intron -25 -0.48 TGCATCCTGCCTGCCTCTAACCTGCCGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 140 315 1 1 1 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.108494343845558 0.00583146118315714 0.909449058134826 0.942837097485642 NA 0.0571629025143576 NA FALSE NA 0 -0.337 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:84918499 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant -0.344531 0.1944 0.09215 0.065574 0.452316865458785 0.0840473 6.34799091474105e-07 FALSE 4.06312e-06 ENSE00001229410_005 ENSE00001229410 005 15 85461705 85461874 + 50 81 39 G A 85461730 2336 26 TGCATCCTGCCTGCCTCTAACCTGCAGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918498 84918499 84918499 upstr_intron -25 -0.48 TGCATCCTGCCTGCCTCTAACCTGCAGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 249 523 1 0.950623291193596 0.975311645596798 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.108494343845558 -0.043545247623247 0.909449058134826 0.942837097485642 NA 0.0324745481111556 NA FALSE NA 0 -0.337 NA NA NA SLC28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A1 NA NA NA ENSG00000156222 ENSE00001229410 intron_variant 0.012487 0.16068 0.04599 0.065574 0.513572856157897 0.0840473 6.34799091474105e-07 FALSE 1.62525e-05 ENSE00001229410_006 ENSE00001229410 006 15 85461705 85461874 + 50 81 39 C G 85461733 2337 29 TGCATCCTGCCTGCCTCTAACCTGCGGTGCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918501 84918502 84918502 upstr_intron -22 -0.42 TGCATCCTGCCTGCCTCTAACCTGCGGTGCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 27 106 0.85 0.85 0.85 174 14 0.8 0.81773072815457 0.808865364077285 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.0189339222556331 -0.0999641940140185 -0.0915056561544418 -0.176437810662273 0.909449058134826 0.942837097485642 -0.0594490581348258 -0.133971733408357 0.0745226752735316 FALSE FALSE 0 0.008 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 9/12 1 NA TCC C,G 8.236e-06 15:84918502 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant 0.01392 0.17988 0.06439 0.065574 0.521342571729898 0.0840473 6.34799091474105e-07 FALSE 8.12493e-06 ENSE00001229410_007 ENSE00001229410 007 15 85461705 85461874 + 50 81 39 T C 85461735 2338 31 TGCATCCTGCCTGCCTCTAACCTGCGGTCCCATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918503 84918504 84918504 upstr_intron -20 -0.38 TGCATCCTGCCTGCCTCTAACCTGCGGTCCCATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 55 110 0.85 0.85 0.85 99 294 0.805241077287261 0.800859505038456 0.803050291162858 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.0189339222556331 -0.0999641940140185 -0.0862645788671813 -0.193309033778387 0.909449058134826 0.942837097485642 -0.0594490581348258 -0.139786806322784 0.0803377481879585 FALSE FALSE 0.002 0.524 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 9/12 rs374465179 1 NA C:0 C:0.0001 CTA T,C 8.236e-06 15:84918504 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant -0.128966 0.18671 0.01572 0.065574 0.411392091090209 0.0840473 6.34799091474105e-07 FALSE 8.12466e-06 ENSE00001229410_008 ENSE00001229410 008 15 85461705 85461874 + 50 81 39 A G 85461736 2339 32 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTGTGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918504 84918505 84918505 upstr_intron -19 -0.36 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTGTGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 181 46 1 0.985563456263224 0.992781728131612 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.108494343845558 -0.00860508255361903 0.909449058134826 0.942837097485642 NA 0.0499446306459695 NA FALSE NA 0 -0.973 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 9/12 1 NA TAT A,G 8.236e-06 15:84918505 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant -0.309506 0.12785 0.01241 0.065574 0.30546204497881 0.0840473 6.34799091474105e-07 FALSE 1.21861e-05 ENSE00001229410_010 ENSE00001229410 010 15 85461705 85461874 + 50 81 39 C T 85461749 2341 45 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCTGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918517 84918518 84918518 upstr_intron -6 -0.1 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCTGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 120 98 0.963607006830684 1 0.981803503415342 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.0721013506762422 0.00583146118315714 0.909449058134826 0.942837097485642 NA 0.0389664059296997 NA FALSE NA 0 -1.175 rs140424338 splice_region_variant&intron_variant LOW SLC28A1 HGNC 11001 ENST00000537703 9/12 rs140424338 1 T:0.0028 T:0.003 T:0 NA T:0.0069 T:0.003 T:0 T:0.0011 T:0.0006 CCG C,T 0.001861 15:84918518 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 splice_region_variant 0.215957 0.17966 0.02086 0.065574 0.573717101965163 0.0840473 6.34799091474105e-07 FALSE 0.00175876 ENSE00001229410_011 ENSE00001229410 011 15 85461705 85461874 + 50 81 39 G A 85461750 2342 46 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCAGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918518 84918519 84918519 upstr_intron -5 -0.08 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCAGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 183 473 0.987002033997673 0.993593339728422 0.990297686863048 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.0954963778432307 -0.000575199088420519 0.909449058134826 0.942837097485642 NA 0.0474605893774051 NA FALSE NA 0 -0.153 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:84918519 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 splice_region_variant -0.002309 0.18158 0.01353 0.065574 0.474180653341255 0.0840473 6.34799091474105e-07 FALSE 0.000954563 ENSE00001229410_012 ENSE00001229410 012 15 85461705 85461874 + 50 81 39 G C 85461750 2343 46 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCCGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918518 84918519 84918519 upstr_intron -5 -0.08 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCCGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 90 63 1 0.965123371175429 0.982561685587715 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.108494343845558 -0.0290451676414134 0.909449058134826 0.942837097485642 NA 0.0397245881020724 NA FALSE NA 0 -0.153 NA NA NA SLC28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A1 NA NA NA ENSG00000156222 ENSE00001229410 splice_region_variant -0.227947 0.17496 0.04618 0.065574 0.417131678304994 0.0840473 6.34799091474105e-07 FALSE 4.06197e-06 ENSE00001229410_013 ENSE00001229410 013 15 85461705 85461874 + 50 81 39 A T 85461753 2344 49 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCTGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918521 84918522 84918522 upstr_intron -2 -0.02 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCTGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 146 92 0 0 0 143 295 0 0.0291975772280126 0.0145987886140063 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.868933922255633 -0.949964194014018 -0.891505656154442 -0.96497096158883 0.909449058134826 0.942837097485642 -0.909449058134826 -0.928238308871636 0.0187892507368104 TRUE TRUE 1 8.162 . splice_acceptor_variant HIGH SLC28A1 HGNC 11001 ENST00000537703 9/12 1 NA HC CAG A,T 4.118e-05 15:84918522 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 splice_acceptor_variant 2.968432 0.98589 0.99045 0.065574 0.979517562320385 0.793766 6.34799091474105e-07 FALSE 4.06157e-05 ENSE00001229410_014 ENSE00001229410 014 15 85461705 85461874 + 50 81 39 C A 85461763 2345 59 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCAATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918531 84918532 84918532 exon 9 0.111111111111111 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCAATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 20 18 0.85 0.85 0.85 13 1152 1 0.858995940027417 0.929497970013708 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.0189339222556331 -0.0999641940140185 0.108494343845558 -0.135172598789426 0.909449058134826 0.942837097485642 -0.0594490581348258 -0.0133391274719338 0.0461099306628919 FALSE FALSE 0.996 0.683 . synonymous_variant LOW SLC28A1 HGNC 11001 ENST00000537703 10/13 1 NA CCA C,A 8.236e-06 15:84918532 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 synonymous_variant 1.759192 0.97088 0.74729 0.568482 0.723924798809936 0 6.34799091474105e-07 FALSE 4.06138e-06 ENSE00001229410_015 ENSE00001229410 015 15 85461705 85461874 + 50 81 39 C T 85461778 2346 74 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTTAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918546 84918547 84918547 exon 24 0.296296296296296 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTTAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 57 38 0.844580031569069 0.85 0.847290015784535 NA NA NA NA NA 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.0243538906865636 -0.0999641940140185 NA NA 0.909449058134826 0.942837097485642 -0.062159042350291 NA NA NA FALSE 1 1.58 . synonymous_variant LOW SLC28A1 HGNC 11001 ENST00000537703 10/13 COSM966012&COSM3504827&COSM3504828 1 NA TCA C,T 8.236e-06 15:84918547 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 synonymous_variant 1.274917 0.98137 0.78939 0.568482 0.743477361601564 0 6.34799091474105e-07 FALSE 4.06141e-06 ENSE00001229410_016 ENSE00001229410 016 15 85461705 85461874 + 50 81 39 G A 85461780 2347 76 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAACTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918548 84918549 84918549 exon 26 0.320987654320988 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAACTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 210 122 0.998023669907359 0.983909754639614 0.990966712273487 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.106518013752918 -0.0102587841772286 0.909449058134826 0.942837097485642 NA 0.0481296147878445 NA FALSE NA 1 6.853 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 10/13 1 possibly_damaging(0.517) NA AGC G,A 1.647e-05 15:84918549 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 missense_variant 4.986276 0.98218 0.94759 0.568482 0.994269942320553 0 6.34799091474105e-07 FALSE 1.21845e-05 ENSE00001229410_018 ENSE00001229410 018 15 85461705 85461874 + 50 81 39 G T 85461785 2349 81 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTTTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918553 84918554 84918554 exon 31 0.382716049382716 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTTTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 513 185 0.974877124982149 0.966055912366308 0.970466518674229 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.0833714688277072 -0.0281126264505346 0.909449058134826 0.942837097485642 NA 0.0276294211885863 NA FALSE NA 1 2.67 rs147714985 missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 10/13 rs147714985 1 benign(0.063) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TGT G,T 1.647e-05 15:84918554 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 missense_variant 4.091311 0.97115 0.87783 0.568482 0.97097067561892 0 6.34799091474105e-07 FALSE 4.06124e-06 ENSE00001229410_019 ENSE00001229410 019 15 85461705 85461874 + 50 81 39 C T 85461787 2350 83 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTTATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918555 84918556 84918556 exon 33 0.407407407407407 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTTATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 133 29 1 1 1 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.108494343845558 0.00583146118315714 0.909449058134826 0.942837097485642 NA 0.0571629025143576 NA FALSE NA 1 0.91 . synonymous_variant LOW SLC28A1 HGNC 11001 ENST00000537703 10/13 rs200365277 1 T:0.0006 T:0 T:0.0043 NA T:0 T:0 T:0 TCA C,T 0.0001318 15:84918556 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 synonymous_variant 1.073342 0.95283 0.59312 0.568482 0.555722418073033 0 6.34799091474105e-07 FALSE 0.00013808 ENSE00001229410_020 ENSE00001229410 020 15 85461705 85461874 + 50 81 39 A G 85461788 2351 84 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCGTATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918556 84918557 84918557 exon 34 0.419753086419753 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCGTATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 355 42 0.877208291820706 1 0.938604145910353 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA -0.0142973643337356 0.00583146118315714 0.909449058134826 0.942837097485642 NA -0.00423295157528925 NA FALSE NA 1 4.333 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 10/13 1 benign(0.007) NA CAT A,G 7.413e-05 15:84918557 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 missense_variant 1.623692 0.98621 0.9256 0.568482 0.982071823344818 0 6.34799091474105e-07 FALSE 0.000101529 ENSE00001229410_021 ENSE00001229410 021 15 85461705 85461874 + 50 81 39 C T 85461793 2352 89 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCTGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918561 84918562 84918562 exon 39 0.481481481481481 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCTGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 82 53 0.85 0.956166991091432 0.903083495545716 NA NA NA NA NA 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.0189339222556331 0.00620279707741345 NA NA 0.909449058134826 0.942837097485642 -0.00636556258910981 NA NA NA FALSE 0 -5.499 . synonymous_variant LOW SLC28A1 HGNC 11001 ENST00000537703 10/13 rs370744094&COSM3504831&COSM3504832 1 NA T:0.0002 T:0.0001 CCG C,T 1.647e-05 15:84918562 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 synonymous_variant 0.59819 0.05918 0.00624 0.57788 0.43675762602764 0 6.34799091474105e-07 FALSE 4.06141e-06 ENSE00001229410_023 ENSE00001229410 023 15 85461705 85461874 + 50 81 39 C T 85461799 2354 95 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTTTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918567 84918568 84918568 exon -37 0.555555555555556 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTTTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 124 26 0.979364186346462 1 0.989682093173231 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.0878585301920201 0.00583146118315714 0.909449058134826 0.942837097485642 NA 0.0468449956875886 NA FALSE NA 1 0.649 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:84918568 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 synonymous_variant 0.593044 0.95522 0.6077 0.57788 0.469023958254136 0 6.34799091474105e-07 FALSE 1.21839e-05 ENSE00001229410_024 ENSE00001229410 024 15 85461705 85461874 + 50 81 39 C G 85461799 2355 95 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTGTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918567 84918568 84918568 exon -37 0.555555555555556 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTGTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 24 17 0.843756962533705 0.947449623321648 0.895603292927676 877 49 0.999341188786329 1 0.999670594393165 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.0251769597219278 -0.00251457069237093 0.107835532631887 0.00583146118315714 0.909449058134826 0.942837097485642 -0.0138457652071494 0.0568334969075223 0.0706792621146717 FALSE FALSE 1 0.649 NA NA NA SLC28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A1 NA NA NA ENSG00000156222 ENSE00001229410 synonymous_variant 0.394516 0.95534 0.60527 0.57788 0.4811683216303 0 6.34799091474105e-07 FALSE 1.62452e-05 ENSE00001229410_025 ENSE00001229410 025 15 85461705 85461874 + 50 81 39 C T 85461805 2356 101 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCATGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918573 84918574 84918574 exon -31 0.62962962962963 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCATGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 31 52 0.85 0.85 0.85 215 28 0.825772211069822 1 0.912886105534911 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.0189339222556331 -0.0999641940140186 -0.0657334450846199 0.00583146118315714 0.909449058134826 0.942837097485642 -0.0594490581348258 -0.0299509919507314 0.0294980661840945 FALSE FALSE 0 -1.637 . synonymous_variant LOW SLC28A1 HGNC 11001 ENST00000537703 10/13 rs369148182 1 NA ACG C,T 1.647e-05 15:84918574 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 synonymous_variant 0.52664 0.11343 0.00833 0.57788 0.314453315137608 0 6.34799091474105e-07 FALSE 6.09211e-05 ENSE00001229410_026 ENSE00001229410 026 15 85461705 85461874 + 50 81 39 G A 85461806 2357 102 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACATGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918574 84918575 84918575 exon -30 0.641975308641975 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACATGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 72 2053 0.864988066526291 0.825889622449126 0.845438844487709 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA -0.0265175896281508 -0.168278916367717 0.909449058134826 0.942837097485642 NA -0.0973982529979336 NA FALSE NA 0 -0.587 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 10/13 rs373571814 1 benign(0.072) NA A:0 A:0.0002 CGT G,A 8.236e-05 15:84918575 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 missense_variant 0.004296 0.1695 0.02875 0.57788 0.808515781332095 0 6.34799091474105e-07 FALSE 6.90456e-05 ENSE00001229410_027 ENSE00001229410 027 15 85461705 85461874 + 50 81 39 G C 85461809 2358 105 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGCGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918577 84918578 84918578 exon -27 0.679012345679012 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGCGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 12 23 0.85 0.85 0.85 401 403 0.895425296974566 0.831479077966168 0.863452187470367 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.0189339222556331 -0.0999641940140185 0.00391964082012397 -0.162689460850675 0.909449058134826 0.942837097485642 -0.0594490581348258 -0.0793849100152753 0.0199358518804496 FALSE FALSE 1 5.684 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 10/13 1 possibly_damaging(0.687) NA GGG G,C 8.236e-06 15:84918578 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 missense_variant 4.961114 0.97786 0.94813 0.57788 0.998227766644067 0 6.34799091474105e-07 FALSE 4.06164e-06 ENSE00001229410_028 ENSE00001229410 028 15 85461705 85461874 + 50 81 39 G T 85461822 2359 118 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTTGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918590 84918591 84918591 exon -14 0.839506172839506 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTTGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 933 96 0.90987007831433 0.980889472137529 0.945379775225929 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.0183644221598878 -0.0132790666793142 0.909449058134826 0.942837097485642 NA 0.00254267774028677 NA FALSE NA 1 5.598 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 10/13 1 benign(0.173) NA TGG G,T 4.942e-05 15:84918591 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 missense_variant 6.813825 0.98229 0.93725 0.57788 0.983656024030973 0 6.34799091474105e-07 FALSE 2.4373e-05 ENSE00001229410_030 ENSE00001229410 030 15 85461705 85461874 + 50 81 39 A G 85461838 2361 134 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTGAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918606 84918607 84918607 downstr_intron 3 1.07894736842105 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTGAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 823 148 0.94336132398328 0.984907265718017 0.964134294850648 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.0518556678288378 -0.00926127309882607 0.909449058134826 0.942837097485642 NA 0.0212971973650058 NA FALSE NA 1 2.971 . splice_region_variant&intron_variant LOW SLC28A1 HGNC 11001 ENST00000537703 10/12 1 NA TAA A,G 8.236e-06 15:84918607 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 splice_region_variant 0.81658 0.95079 0.27513 0.065574 0.654197000146772 0.288823 6.34799091474105e-07 FALSE 4.06339e-06 ENSE00001229410_031 ENSE00001229410 031 15 85461705 85461874 + 50 81 39 T A 85461842 2362 138 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTACCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918610 84918611 84918611 downstr_intron 7 1.18421052631579 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTACCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 108 62 0.968729320119154 1 0.984364660059577 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.0772236639647118 0.00583146118315714 0.909449058134826 0.942837097485642 NA 0.0415275625739345 NA FALSE NA 0.001 -0.224 . splice_region_variant&intron_variant LOW SLC28A1 HGNC 11001 ENST00000537703 10/12 1 NA TTC T,A 9.06e-05 15:84918611 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 splice_region_variant 0.041414 0.2224 0.03027 0.065574 0.511301380968962 0.103498 6.34799091474105e-07 FALSE 8.53416e-05 ENSE00001229410_032 ENSE00001229410 032 15 85461705 85461874 + 50 81 39 G A 85461849 2363 145 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTACCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918617 84918618 84918618 downstr_intron 14 1.36842105263158 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTACCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 808 536 1 0.97998982281598 0.98999491140799 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.108494343845558 -0.014178716000863 0.909449058134826 0.942837097485642 NA 0.0471578139223476 NA FALSE NA 0 -2.984 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 10/12 rs543112477 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 8.236e-06 15:84918618 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant 0.026368 0.13548 0.00982 0.053691 0.290624207355339 0.0923185 6.34799091474105e-07 FALSE NA ENSE00001229410_034 ENSE00001229410 034 15 85461705 85461874 + 50 81 39 T C 85461854 2365 150 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCACGGCCAGGGCTCTCCCAGAGT 84918473 84918643 84918622 84918623 84918623 downstr_intron 19 1.5 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCACGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant 10 15 0.973340628344062 0.85 0.911670314172031 126 152 0.900014217844621 0.957113167790687 0.928563692817654 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 0.104406706088429 -0.0999641940140185 0.00850856169017888 -0.037055371026156 0.909449058134826 0.942837097485642 0.00222125603720547 -0.0142734046679885 0.016494660705194 FALSE FALSE 0 -0.701 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 10/12 rs531785179 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 8.236e-06 15:84918623 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant -0.185484 0.14203 0.01538 0.053691 0.354226529620551 0.0923185 6.34799091474105e-07 FALSE 8.13279e-06 ENSE00001229410_035 ENSE00001229410 035 15 85461705 85461874 + 50 81 39 C A 85461857 2366 153 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGACAGGGCTCTCCCAGAGT 84918473 84918643 84918625 84918626 84918626 downstr_intron 22 1.57894736842105 TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGACAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT mutant NA NA NA NA NA 71 50 1 0.961184649078347 0.980592324539173 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 NA NA 0.108494343845558 -0.0329838897384961 0.909449058134826 0.942837097485642 NA 0.037755227053531 NA FALSE NA 0 -0.133 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 10/12 rs551934690 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 GCC C,A 1.647e-05 15:84918626 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229410 intron_variant 0.208045 0.19135 0.03704 0.053691 0.418717738957129 0.0923185 6.34799091474105e-07 FALSE 8.1367e-06 ENSE00001229410_BRK ENSE00001229410 BRK 15 85461705 85461874 + 50 81 39 A,G; T,T NA NA NA TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCTTGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGCCAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT 84918473 84918643 NA NA NA NA NA NA TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCTTGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGCCAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT TGCATCCTGCCTGCCTCTAACCTGCGGTCCTATGATCTCCTTCCCGGCAGGTTCTGCCCATCATTGTCTTTTTCAGCTGTGTCATATCCGTTCTCTACCACGTGGGCCTCATGCAGTGGGTGATCCTGAAGGTAAGTTCCCAGTGCCCATGGCCAGGGCTCTCCCAGAGT control 92 92 0.0142422362886097 0 0.00712111814430485 318 731 0 0 0 0.868933922255633 0.949964194014018 0.891505656154442 0.994168538816843 -0.854691685967023 -0.949964194014018 -0.891505656154442 -0.994168538816843 0.909449058134826 0.942837097485642 -0.902327939990521 -0.942837097485642 0.0405091574951215 TRUE TRUE NA NA NA NA NA SLC28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A1 NA NA NA ENSG00000156222 ENSE00001229410 NA NA NA NA NA NA NA 6.34799091474105e-07 FALSE NA ENSE00001229416_000 ENSE00001229416 000 15 85451898 85452067 + 51 78 41 NA NA NA NA NA CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 NA NA NA NA NA NA CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC natural 84 47 0.982073901511244 0.998045586241211 0.990059743876228 2755 500 0.866812341832874 0.982639900457489 0.924726121145182 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 0 0 0 0 0.990059743876228 0.924726121145182 0 0 0 FALSE FALSE NA NA NA NA NA SLC28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC28A1 NA NA NA ENSG00000156222 ENSE00001229416 NA NA NA NA NA NA NA 6.34799091474105e-07 FALSE NA ENSE00001229416_001 ENSE00001229416 001 15 85451898 85452067 + 51 78 41 C G 85451908 2301 11 CCCTTCCCAGGCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908676 84908677 84908677 upstr_intron -41 -0.784313725490196 CCCTTCCCAGGCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 1183 907 0.984319189802993 0.955248921018042 0.969784055410517 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.117506847970118 -0.0273909794394468 0.990059743876228 0.924726121145182 NA 0.0450579342653358 NA FALSE NA 0 -0.799 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 8/12 1 NA GCC C,G 1.647e-05 15:84908677 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 intron_variant 0.145769 0.20129 0.02854 0.056701 0.641189158717493 0.068192 6.34799091474105e-07 FALSE 8.42247e-06 ENSE00001229416_002 ENSE00001229416 002 15 85451898 85452067 + 51 78 41 A C 85451912 2302 15 CCCTTCCCAGCCTCCCTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908680 84908681 84908681 upstr_intron -37 -0.705882352941177 CCCTTCCCAGCCTCCCTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant 17 21 0.85 0.85 0.85 NA NA NA NA NA 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 -0.132073901511244 -0.148045586241211 NA NA 0.990059743876228 0.924726121145182 -0.140059743876228 NA NA NA FALSE 0 0.115 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 8/12 1 NA CAC A,C 8.236e-06 15:84908681 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 intron_variant -0.137747 0.22567 0.0953 0.056701 0.726099894266475 0.084444 6.34799091474105e-07 FALSE 4.182e-06 ENSE00001229416_003 ENSE00001229416 003 15 85451898 85452067 + 51 78 41 G A 85451919 2303 22 CCCTTCCCAGCCTCACTGCCTATTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908687 84908688 84908688 upstr_intron -30 -0.568627450980392 CCCTTCCCAGCCTCACTGCCTATTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 142 764 0.986183789033296 0.992891257569114 0.989537523301205 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.119371447200422 0.0102513571116253 0.990059743876228 0.924726121145182 NA 0.0648114021560235 NA FALSE NA 0 -0.16 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 8/12 1 NA TGT G,A 8.236e-06 15:84908688 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 intron_variant 0.246285 0.21148 0.0481 0.056701 0.781109781776584 0.0618206 6.34799091474105e-07 FALSE 4.14086e-06 ENSE00001229416_005 ENSE00001229416 005 15 85451898 85452067 + 51 78 41 G A 85451929 2305 32 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTATTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908697 84908698 84908698 upstr_intron -20 -0.372549019607843 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTATTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 60 51 1 1 1 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.133187658167126 0.0173600995425109 0.990059743876228 0.924726121145182 NA 0.0752738788548182 NA FALSE NA 0 -0.794 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 8/12 1 NA TGT G,A 8.237e-06 15:84908698 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 intron_variant 0.119595 0.21587 0.04447 0.056701 0.701408055806229 0.0689112 6.34799091474105e-07 FALSE 4.10701e-06 ENSE00001229416_007 ENSE00001229416 007 15 85451898 85452067 + 51 78 41 T C 85451941 2307 44 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTCCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908709 84908710 84908710 upstr_intron -8 -0.137254901960784 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTCCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 421 51 0.810788414405069 0.95 0.880394207202535 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA -0.0560239274278054 -0.0326399004574891 0.990059743876228 0.924726121145182 NA -0.0443319139426472 NA FALSE NA 0 -0.31 . splice_region_variant&intron_variant LOW SLC28A1 HGNC 11001 ENST00000537703 8/12 1 NA TTC T,C 8.236e-06 15:84908710 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 splice_region_variant -0.661595 0.17989 0.04016 0.056701 0.453064193682099 0.124782 6.34799091474105e-07 FALSE 4.08427e-06 ENSE00001229416_008 ENSE00001229416 008 15 85451898 85452067 + 51 78 41 C G 85451942 2308 45 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTGTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908710 84908711 84908711 upstr_intron -7 -0.117647058823529 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTGTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant 85 135 0.871808872282466 0.85 0.860904436141233 NA NA NA NA NA 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 -0.110265029228779 -0.148045586241211 NA NA 0.990059743876228 0.924726121145182 -0.129155307734995 NA NA NA FALSE 0.257 1.143 . splice_region_variant&intron_variant LOW SLC28A1 HGNC 11001 ENST00000537703 8/12 1 NA TCT C,G 8.236e-06 15:84908711 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 splice_region_variant -0.243522 0.26735 0.13073 0.056701 0.603148644990853 0.137885 6.34799091474105e-07 FALSE 4.0845e-06 ENSE00001229416_009 ENSE00001229416 009 15 85451898 85452067 + 51 78 41 T C 85451943 2309 46 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCCTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908711 84908712 84908712 upstr_intron -6 -0.0980392156862745 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCCTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant 52 107 0.85 0.85 0.85 30 236 0.0165857160783662 0.0377156685551877 0.027150692316777 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 -0.132073901511244 -0.148045586241211 -0.850226625754508 -0.944924231902301 0.990059743876228 0.924726121145182 -0.140059743876228 -0.897575428828405 0.757515684952177 TRUE FALSE 0.336 0.393 . splice_region_variant&intron_variant LOW SLC28A1 HGNC 11001 ENST00000537703 8/12 1 NA CTT T,C 8.236e-06 15:84908712 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 splice_region_variant -0.435428 0.25407 0.06588 0.056701 0.631202396709352 0.208053 6.34799091474105e-07 FALSE 4.08063e-06 ENSE00001229416_011 ENSE00001229416 011 15 85451898 85452067 + 51 78 41 C G 85451954 2311 57 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTGCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908722 84908723 84908723 exon 6 0.0769230769230769 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTGCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 130 108 0.872836985471355 1 0.936418492735677 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.00602464363848043 0.0173600995425109 0.990059743876228 0.924726121145182 NA 0.0116923715904957 NA FALSE NA 1 0.753 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 9/13 1 benign(0.062) NA TCC C,G 8.236e-06 15:84908723 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 missense_variant 3.946902 0.92719 0.71123 0.580535 0.994875631996656 0 6.34799091474105e-07 FALSE 1.22132e-05 ENSE00001229416_015 ENSE00001229416 015 15 85451898 85452067 + 51 78 41 C T 85451965 2315 68 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACATGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908733 84908734 84908734 exon 17 0.217948717948718 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACATGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant 11 22 1 1 1 NA NA NA NA NA 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 0.0179260984887556 0.00195441375878913 NA NA 0.990059743876228 0.924726121145182 0.00994025612377236 NA NA NA FALSE 1 5.513 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 9/13 1 probably_damaging(0.912) NA ACG C,T 6.589e-05 15:84908734 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 missense_variant 5.788026 0.95233 0.8582 0.580535 0.998297787401398 0 6.34799091474105e-07 FALSE 5.28666e-05 ENSE00001229416_018 ENSE00001229416 018 15 85451898 85452067 + 51 78 41 G C 85451970 2318 73 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGCCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908738 84908739 84908739 exon 22 0.282051282051282 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGCCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 294 76 0.993685143184615 1 0.996842571592307 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.126872801351741 0.0173600995425109 0.990059743876228 0.924726121145182 NA 0.0721164504471257 NA FALSE NA 0.857 5.214 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 9/13 1 possibly_damaging(0.824) NA GGC G,C 1.647e-05 15:84908739 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 missense_variant 3.61557 0.36399 0.62499 0.580535 0.995946556360086 0 6.34799091474105e-07 FALSE 8.13193e-06 ENSE00001229416_020 ENSE00001229416 020 15 85451898 85452067 + 51 78 41 C T 85451984 2320 87 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTTGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908752 84908753 84908753 exon 36 0.461538461538462 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTTGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 154 397 0.999003438259113 0.998743988172468 0.998873713215791 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.132191096426239 0.0161040877149792 0.990059743876228 0.924726121145182 NA 0.0741475920706089 NA FALSE NA 0.025 -0.767 rs141753029 synonymous_variant LOW SLC28A1 HGNC 11001 ENST00000537703 9/13 rs141753029 1 NA T:0.0002 T:0.0002 TCG C,T 1.647e-05 15:84908753 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 synonymous_variant 1.558634 0.89135 0.14328 0.580535 0.710787173092819 0 6.34799091474105e-07 FALSE 2.43799e-05 ENSE00001229416_024 ENSE00001229416 024 15 85451898 85452067 + 51 78 41 C T 85451998 2324 101 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGTGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908766 84908767 84908767 exon -29 0.641025641025641 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGTGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant 23 33 0.85 0.85 0.85 NA NA NA NA NA 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 -0.132073901511244 -0.148045586241211 NA NA 0.990059743876228 0.924726121145182 -0.140059743876228 NA NA NA FALSE 0 0.202 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 9/13 1 benign(0.003) NA GCG C,T 2.471e-05 15:84908767 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 missense_variant 0.693294 0.274 0.08757 0.514905 0.665682016639189 0 6.34799091474105e-07 FALSE 3.25045e-05 ENSE00001229416_026 ENSE00001229416 026 15 85451898 85452067 + 51 78 41 T A 85452013 2326 116 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGACTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908781 84908782 84908782 exon -14 0.833333333333333 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGACTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 110 185 0.98228493391838 1 0.99114246695919 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.115472592085506 0.0173600995425109 0.990059743876228 0.924726121145182 NA 0.0664163458140083 NA FALSE NA 0.797 0.651 . missense_variant MODERATE SLC28A1 HGNC 11001 ENST00000537703 9/13 1 benign(0.439) NA GTC T,A 8.236e-06 15:84908782 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 missense_variant 4.713863 0.93157 0.69667 0.514905 0.975502936195276 0 6.34799091474105e-07 FALSE 4.0627e-06 ENSE00001229416_028 ENSE00001229416 028 15 85451898 85452067 + 51 78 41 G C 85452035 2328 138 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTCACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908803 84908804 84908804 downstr_intron 9 1.225 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTCACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 182 292 0.994052767817634 0.971912914490208 0.982982841153921 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.12724042598476 -0.0107269859672813 0.990059743876228 0.924726121145182 NA 0.0582567200087392 NA FALSE NA 0.002 -0.113 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 9/12 rs371256197 1 NA C:0 C:0.0001 TGA G,C 1.647e-05 15:84908804 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 intron_variant 0.793989 0.23029 0.03029 0.053691 0.784580513868954 0.264087 6.34799091474105e-07 FALSE 8.13048e-06 ENSE00001229416_030 ENSE00001229416 030 15 85451898 85452067 + 51 78 41 C G 85452039 2330 142 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTGAGGGTCCCAGAGGCCTTTAGCAGCCACC 84908666 84908836 84908807 84908808 84908808 downstr_intron 13 1.325 CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTGAGGGTCCCAGAGGCCTTTAGCAGCCACC CCCTTCCCAGCCTCACTGCCTGTTTTTGTTTGTTTTGCTTTTTTCTTTCAGATCTTCCTGAGCTACACGAAGGCTGGCTCCAGCTTCGTGTTTGGGGAGGCGCTGGTCAAGGATGTCTTTGCCTTTCAGGTCAGCTTGACTCAGGGTCCCAGAGGCCTTTAGCAGCCACC mutant NA NA NA NA NA 143 411 1 1 1 0.982073901511244 0.998045586241211 0.866812341832874 0.982639900457489 NA NA 0.133187658167126 0.0173600995425109 0.990059743876228 0.924726121145182 NA 0.0752738788548182 NA FALSE NA 0 -0.419 . intron_variant MODIFIER SLC28A1 HGNC 11001 ENST00000537703 9/12 1 NA TCA C,G 8.237e-06 15:84908808 SLC28A1 HGNC Symbol protein_coding 61142 ENSG00000156222 ENSE00001229416 intron_variant 0.096057 0.23364 0.04518 0.053691 0.61676704276842 0.120725 6.34799091474105e-07 FALSE 8.13253e-06 ENSE00001229801_000 ENSE00001229801 000 18 55226347 55226516 - 30 99 41 NA NA NA NA NA CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA 57559114 57559284 NA NA NA NA NA NA CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA natural 130 143 0.85 0.826837452424156 0.838418726212078 3007 1636 0.826832657725751 0.822122039637635 0.824477348681693 0.85 0.826837452424156 0.826832657725751 0.822122039637635 0 0 0 0 0.838418726212078 0.824477348681693 0 0 0 FALSE FALSE NA NA NA NA NA FECH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FECH NA NA NA ENSG00000066926 ENSE00003687093 NA NA NA NA NA NA NA 0.138946552569902 FALSE NA ENSE00001229801_002 ENSE00001229801 002 18 55226347 55226516 - 30 99 41 G A 55226365 697 152 CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAATATTTTCTGGGATGACCTA 57559114 57559284 57559132 57559133 57559133 downstr_intron 12 1.41379310344828 CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAATATTTTCTGGGATGACCTA CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA mutant NA NA NA NA NA 182 220 0.825375231091672 0.790962238607852 0.808168734849762 0.85 0.826837452424156 0.826832657725751 0.822122039637635 NA NA -0.001457426634079 -0.0311598010297838 0.838418726212078 0.824477348681693 NA -0.0163086138319314 NA FALSE NA 0 -1.212 . intron_variant MODIFIER FECH HGNC 3647 ENST00000262093 7/10 1 NA TGT G,A 8.236e-06 18:57559133 FECH HGNC Symbol protein_coding 38489 ENSG00000066926 ENSE00003687093 intron_variant 0.46098 0.20003 0.00958 0.162113 0.607367130675373 0.083747 0.138946552569902 FALSE 4.06653e-06 ENSE00001229801_004 ENSE00001229801 004 18 55226347 55226516 - 30 99 41 A G 55226381 699 136 CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCACGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA 57559114 57559284 57559148 57559149 57559149 exon -5 0.95959595959596 CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCACGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA mutant 35 14 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.826837452424156 0.826832657725751 0.822122039637635 0 0.0231625475758441 NA NA 0.838418726212078 0.824477348681693 0.0115812737879221 NA NA NA FALSE 1 8.464 . missense_variant MODERATE FECH HGNC 3647 ENST00000262093 7/11 rs201476938 1 deleterious(0) possibly_damaging(0.828) NA G:0 G:0.0001 CAT A,G 0.0001153 18:57559149 FECH HGNC Symbol protein_coding 38489 ENSG00000066926 ENSE00003687093 missense_variant 5.269581 0.99464 0.99361 0.706298 0.990848120481392 0 0.138946552569902 FALSE 8.53492e-05 ENSE00001229801_009 ENSE00001229801 009 18 55226347 55226516 - 30 99 41 C T 55226413 704 104 CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTAGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA 57559114 57559284 57559180 57559181 57559181 exon -37 0.636363636363636 CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTAGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA mutant 86 13 0 0 0 NA NA NA NA NA 0.85 0.826837452424156 0.826832657725751 0.822122039637635 -0.85 -0.826837452424156 NA NA 0.838418726212078 0.824477348681693 -0.838418726212078 NA NA NA TRUE 0.988 0.225 . synonymous_variant LOW FECH HGNC 3647 ENST00000262093 7/11 rs368388625 1 NA T:0.0002 T:0 CCA C,T 8.236e-06 18:57559181 FECH HGNC Symbol protein_coding 38489 ENSG00000066926 ENSE00003687093 synonymous_variant 1.654156 0.97834 0.85064 0.706298 0.79223458777529 0 0.138946552569902 FALSE 4.06233e-06 ENSE00001229801_012 ENSE00001229801 012 18 55226347 55226516 - 30 99 41 C T 55226466 707 51 CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAAATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA 57559114 57559284 57559233 57559234 57559234 exon 10 0.101010101010101 CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAAATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA mutant NA NA NA NA NA 26 193 0.132438853736955 0 0.0662194268684777 0.85 0.826837452424156 0.826832657725751 0.822122039637635 NA NA -0.694393803988796 -0.822122039637635 0.838418726212078 0.824477348681693 NA -0.758257921813215 NA TRUE NA 1 5.356 . missense_variant MODERATE FECH HGNC 3647 ENST00000262093 7/11 1 tolerated(0.26) benign(0.012) NA TCT C,T 8.236e-06 18:57559234 FECH HGNC Symbol protein_coding 38489 ENSG00000066926 ENSE00003687093 missense_variant 2.188236 0.98707 0.9871 0.706298 0.982707211126423 0 0.138946552569902 FALSE 4.06385e-06 ENSE00001229801_013 ENSE00001229801 013 18 55226347 55226516 - 30 99 41 G A 55226496 708 21 CTTCCCTTCCTCTTTATCCTTCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA 57559114 57559284 57559263 57559264 57559264 upstr_intron -21 -0.48780487804878 CTTCCCTTCCTCTTTATCCTTCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA CTTCCCTTCCTCTTTATCCTCCTTTCTTGTTACTCACTCAGTGCTTTGCAGATCATATTCTAAAGGAACTGGACCATTTTCCACTTGAGAAGAGAAGCGAGGTGGTCATTCTGTTTTCTGCTCACTCACTGCCCATGTCTGTAAGTAAGAACATTTTCTGGGATGACCTA mutant NA NA NA NA NA 182 325 0.974118352854544 0.955699661692734 0.964909007273639 0.85 0.826837452424156 0.826832657725751 0.822122039637635 NA NA 0.147285695128793 0.133577622055099 0.838418726212078 0.824477348681693 NA 0.140431658591946 NA FALSE NA 0 0.793 . intron_variant MODIFIER FECH HGNC 3647 ENST00000262093 6/10 1 NA GGA G,A 8.236e-06 18:57559264 FECH HGNC Symbol protein_coding 38489 ENSG00000066926 ENSE00003687093 intron_variant -0.013886 0.18727 0.02624 0.062308 0.526084354092417 0.259266 0.138946552569902 FALSE 2.03565e-05 ENSE00001232329_000 ENSE00001232329 000 11 117153789 117153958 + 42 96 32 NA NA NA NA NA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 NA NA NA NA NA NA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA natural NA NA NA NA NA 709 449 0.998049022621089 0.968221526446454 0.983135274533771 NA NA 0.998049022621089 0.968221526446454 NA NA 0 0 NA 0.983135274533771 NA 0 NA FALSE NA NA NA NA NA NA BACE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF214 NA NA NA ENSG00000167257 ENSE00003650410 NA NA NA NA NA NA NA 0.830018244677536 FALSE NA ENSE00001232329_004 ENSE00001232329 004 11 117153789 117153958 + 42 96 32 T C 117153826 2720 38 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCCACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 117283109 117283110 117283110 upstr_intron -5 -0.0952380952380952 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCCACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 190 270 0.99737147400669 0.99683753606224 0.997104505034465 NA NA 0.998049022621089 0.968221526446454 NA NA -0.000677548614398504 0.0286160096157857 NA 0.983135274533771 NA 0.0139692305006936 NA FALSE NA 0.979 1.917 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA CTA T,C 8.273e-06 11:117283110 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 splice_region_variant 0.924302 0.59475 0.7213 0.099367 0.790715880025578 0.242588 0.830018244677536 FALSE NA ENSE00001232329_006 ENSE00001232329 006 11 117153789 117153958 + 42 96 32 C G 117153834 2722 46 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTGCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 117283117 117283118 117283118 exon 4 0.0416666666666667 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTGCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant 41 94 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.998049022621089 0.968221526446454 NA NA NA NA NA 0.983135274533771 NA NA NA NA NA 1 2.997 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA TCC C,G 8.273e-06 11:117283118 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 missense_variant 2.454346 0.98457 0.91669 0.706548 0.994167423069309 0 0.830018244677536 FALSE NA ENSE00001232329_009 ENSE00001232329 009 11 117153789 117153958 + 42 96 32 C A 117153839 2725 51 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCAACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 117283122 117283123 117283123 exon 9 0.09375 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCAACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 447 763 0.999815723243903 0.964643619013941 0.982229671128922 NA NA 0.998049022621089 0.968221526446454 NA NA 0.00176670062281425 -0.00357790743251285 NA 0.983135274533771 NA -0.000905603404849298 NA FALSE NA 0.997 0.479 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA CCA C,A 8.272e-06 11:117283123 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 synonymous_variant 1.900181 0.96692 0.82675 0.706548 0.742313877422847 0 0.830018244677536 FALSE 4.06309e-06 ENSE00001232329_013 ENSE00001232329 013 11 117153789 117153958 + 42 96 32 G A 117153873 2729 85 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCATCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 117283156 117283157 117283157 exon 43 0.447916666666667 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCATCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 114 600 0.991000947945555 0.996962052018075 0.993981499981815 NA NA 0.998049022621089 0.968221526446454 NA NA -0.00704807467553403 0.0287405255716212 NA 0.983135274533771 NA 0.0108462254480436 NA FALSE NA 1 7.272 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA CGT G,A 1.654e-05 11:117283157 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 missense_variant 5.392276 0.99037 0.9867 0.706548 0.998571334324943 0 0.830018244677536 FALSE 1.2185e-05 ENSE00001232329_015 ENSE00001232329 015 11 117153789 117153958 + 42 96 32 G A 117153890 2731 102 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTACATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 117283173 117283174 117283174 exon -37 0.625 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTACATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 349 85 0.990806615739043 0.991511569493046 0.991159092616045 NA NA 0.998049022621089 0.968221526446454 NA NA -0.00724240688204569 0.0232900430465923 NA 0.983135274533771 NA 0.00802381808227332 NA FALSE NA 0.923 -0.098 rs146262838 downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 rs146262838 1 A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 TGC G,A 7.443e-05 11:117283174 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 synonymous_variant 1.041699 0.96927 0.79808 0.706548 0.796762334971801 0 0.830018244677536 FALSE 5.68588e-05 ENSE00001232329_017 ENSE00001232329 017 11 117153789 117153958 + 42 96 32 G A 117153902 2733 114 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCATGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 117283185 117283186 117283186 exon -25 0.75 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCATGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 315 20 0.800827873253215 0.807232568439122 0.804030220846168 NA NA 0.998049022621089 0.968221526446454 NA NA -0.197221149367874 -0.160988958007332 NA 0.983135274533771 NA -0.179105053687603 NA FALSE NA 0.001 -1.973 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA CGT G,A 8.271e-06 11:117283186 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 synonymous_variant 1.625535 0.15897 0.0267 0.706548 0.724539044489958 0 0.830018244677536 FALSE 1.62456e-05 ENSE00001232329_019 ENSE00001232329 019 11 117153789 117153958 + 42 96 32 G A 117153917 2735 129 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTACACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 117283200 117283201 117283201 exon -10 0.90625 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTACACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 76 176 0.973462366573621 0.8 0.886731183286811 NA NA 0.998049022621089 0.968221526446454 NA NA -0.0245866560474678 -0.168221526446454 NA 0.983135274533771 NA -0.0964040912469609 NA FALSE NA 0.929 -0.263 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA TGC G,A 1.654e-05 11:117283201 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 synonymous_variant 0.860802 0.95855 0.69553 0.706548 0.793523612445485 0 0.830018244677536 FALSE 1.6273e-05 ENSE00001232329_021 ENSE00001232329 021 11 117153789 117153958 + 42 96 32 C T 117153937 2737 149 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTATAGACCTTCCTCATTTTCTACA 117283072 117283242 117283220 117283221 117283221 downstr_intron 11 1.35483870967742 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTATAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 1165 51 0.998355024910719 0.987093460148308 0.992724242529513 NA NA 0.998049022621089 0.968221526446454 NA NA 0.000306002289629959 0.0188719337018538 NA 0.983135274533771 NA 0.00958896799574188 NA FALSE NA 0 -1.56 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA ACA C,T 8.273e-06 11:117283221 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 intron_variant 0.357926 0.1512 0.00849 0.062308 0.65791496958743 0.13121 0.830018244677536 FALSE 4.20592e-06 ENSE00001232329_022 ENSE00001232329 022 11 117153789 117153958 + 42 96 32 A C 117153938 2738 150 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACCGACCTTCCTCATTTTCTACA 117283072 117283242 117283221 117283222 117283222 downstr_intron 12 1.38709677419355 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACCGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 33 66 0.95 1 0.975 NA NA 0.998049022621089 0.968221526446454 NA NA -0.048049022621089 0.031778473553546 NA 0.983135274533771 NA -0.0081352745337715 NA FALSE NA 0 0.022 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA CAG A,C 8.274e-06 11:117283222 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 intron_variant 0.023951 0.21213 0.02996 0.062308 0.502452528292309 0.0999396 0.830018244677536 FALSE 4.22026e-06 ENSE00001232329_024 ENSE00001232329 024 11 117153789 117153958 + 42 96 32 C A 117153942 2740 154 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACATTCCTCATTTTCTACA 117283072 117283242 117283225 117283226 117283226 downstr_intron 16 1.51612903225806 AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACATTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA mutant NA NA NA NA NA 153 303 1 1 1 NA NA 0.998049022621089 0.968221526446454 NA NA 0.00195097737891103 0.031778473553546 NA 0.983135274533771 NA 0.0168647254662285 NA FALSE NA 0 -0.251 . downstream_gene_variant MODIFIER BACE1 HGNC 933 ENST00000528053 1 NA CCT C,A 8.274e-06 11:117283226 RNF214 HGNC Symbol protein_coding 53820 ENSG00000167257 ENSE00003650410 intron_variant 0.475178 0.17537 0.12603 0.062308 0.605484988787532 0.0999396 0.830018244677536 FALSE 4.29745e-06 ENSE00001232329_BRK ENSE00001232329 BRK 11 117153789 117153958 + 42 96 32 A,G; T,T NA NA NA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACTTGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGCCAGGTGTTACAGACCTTCCTCATTTTCTACA 117283072 117283242 NA NA NA NA NA NA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACTTGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGCCAGGTGTTACAGACCTTCCTCATTTTCTACA AGAGGTTCCTTACCTTTTGATCATGCCGCCTCTGTTCTACAGGCTCCAGCCACCTGTAAGCTATGTCTAATGTGCCAGAAACTCGTCCAGCCCAGTGAGCTGCATCCAATGGCGTGTACCCATGTATTGCACAAGGAGGTAGGTGTTACAGACCTTCCTCATTTTCTACA control 126 94 0.0309778278262129 0 0.0154889139131065 NA NA NA NA NA NA NA 0.998049022621089 0.968221526446454 NA NA NA NA NA 0.983135274533771 NA NA NA NA NA NA NA NA NA NA BACE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF214 NA NA NA ENSG00000167257 ENSE00003650410 NA NA NA NA NA NA NA 0.830018244677536 FALSE NA ENSE00001233002_000 ENSE00001233002 000 12 56749192 56749361 - 35 90 45 NA NA NA NA NA CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 NA NA NA NA NA NA CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG natural 1803 980 0.0166974331253219 0 0.00834871656266097 657 1314 0.827653747243524 0.806623774674072 0.817138760958798 0.0166974331253219 0 0.827653747243524 0.806623774674072 0 0 0 0 0.00834871656266097 0.817138760958798 0 0 0 FALSE FALSE NA NA NA NA NA STAT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT2 NA NA NA ENSG00000170581 ENSE00003609916 NA NA NA NA NA NA NA 0.0410947373611941 FALSE NA ENSE00001233002_001 ENSE00001233002 001 12 56749192 56749361 - 35 90 45 C T 56749213 2106 149 CGCTGTCAACCCTAACTCCTATCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355428 56355429 56355429 downstr_intron 14 1.41176470588235 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGATAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant 95 40 0 0 0 123 35 0.8 0.8 0.8 0.0166974331253219 0 0.827653747243524 0.806623774674072 -0.0166974331253219 0 -0.0276537472435244 -0.00662377467407205 0.00834871656266097 0.817138760958798 -0.00834871656266097 -0.0171387609587982 0.00879004439613727 FALSE FALSE 0.001 0.933 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs200796729 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACC C,T 8.236e-06 12:56355429 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 intron_variant 1.014306 0.28219 0.13654 0.359288 0.70841629381574 0.0808909 0.0410947373611941 FALSE NA ENSE00001233002_002 ENSE00001233002 002 12 56749192 56749361 - 35 90 45 A G 56749234 2107 128 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCGTAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355449 56355450 56355450 exon -8 0.922222222222222 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTACGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant NA NA NA NA NA 545 181 0.982109909558472 0.976887032150101 0.979498470854286 0.0166974331253219 0 0.827653747243524 0.806623774674072 NA NA 0.154456162314947 0.170263257476029 0.00834871656266097 0.817138760958798 NA 0.162359709895488 NA FALSE NA 0.032 0.011 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 COSM941660 1 NA CAT A,G 1.647e-05 12:56355450 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 missense_variant 0.255637 0.78896 0.15215 0.719381 0.751727699535176 0 0.0410947373611941 FALSE 8.1213e-06 ENSE00001233002_003 ENSE00001233002 003 12 56749192 56749361 - 35 90 45 C T 56749239 2108 123 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCTCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355454 56355455 56355455 exon -13 0.866666666666667 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGAGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant 20 22 0.85 0.85 0.85 NA NA NA NA NA 0.0166974331253219 0 0.827653747243524 0.806623774674072 0.833302566874678 0.85 NA NA 0.00834871656266097 0.817138760958798 0.841651283437339 NA NA NA FALSE 0 -0.198 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA CCC C,T 8.236e-06 12:56355455 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 synonymous_variant 1.757871 0.14248 0.03011 0.719381 0.787189636090932 0 0.0410947373611941 FALSE 4.06065e-06 ENSE00001233002_005 ENSE00001233002 005 12 56749192 56749361 - 35 90 45 A T 56749269 2110 93 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCTTGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355484 56355485 56355485 exon -43 0.533333333333333 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACAAGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant 17 13 0.85 0.85 0.85 NA NA NA NA NA 0.0166974331253219 0 0.827653747243524 0.806623774674072 0.833302566874678 0.85 NA NA 0.00834871656266097 0.817138760958798 0.841651283437339 NA NA NA FALSE 1 1.41 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs372975661 1 NA T:0.0002 T:0 CAT A,T 8.236e-06 12:56355485 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 missense_variant -0.770929 0.94737 0.76037 0.719381 0.625521565100329 0 0.0410947373611941 FALSE 4.06058e-06 ENSE00001233002_006 ENSE00001233002 006 12 56749192 56749361 - 35 90 45 T C 56749272 2111 90 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGCTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355487 56355488 56355488 exon 45 0.5 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAGCATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant NA NA NA NA NA 57 899 0.763612339247358 0.8 0.781806169623679 0.0166974331253219 0 0.827653747243524 0.806623774674072 NA NA -0.0640414079961663 -0.00662377467407205 0.00834871656266097 0.817138760958798 NA -0.0353325913351192 NA FALSE NA 0.989 0.06 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA GTT T,C 8.236e-06 12:56355488 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 synonymous_variant -1.083041 0.78502 0.08459 0.719381 0.519400226294442 0 0.0410947373611941 FALSE 4.06058e-06 ENSE00001233002_007 ENSE00001233002 007 12 56749192 56749361 - 35 90 45 T C 56749280 2112 82 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCCCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355495 56355496 56355496 exon 37 0.411111111111111 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGGGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant 126 18 0 0 0 NA NA NA NA NA 0.0166974331253219 0 0.827653747243524 0.806623774674072 -0.0166974331253219 0 NA NA 0.00834871656266097 0.817138760958798 -0.00834871656266097 NA NA NA FALSE 0.998 2.659 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA CTC T,C 8.236e-06 12:56355496 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 missense_variant 0.485091 0.98179 0.8821 0.719381 0.975664516014142 0 0.0410947373611941 FALSE 4.06065e-06 ENSE00001233002_008 ENSE00001233002 008 12 56749192 56749361 - 35 90 45 C A 56749286 2113 76 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCAAAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355501 56355502 56355502 exon 31 0.344444444444444 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTTTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant 33 65 0.0392876429118795 0 0.0196438214559398 NA NA NA NA NA 0.0166974331253219 0 0.827653747243524 0.806623774674072 0.0225902097865576 0 NA NA 0.00834871656266097 0.817138760958798 0.0112951048932788 NA NA NA FALSE 0.043 0.71 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA ACA C,A 8.236e-06 12:56355502 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 missense_variant 0.328212 0.26429 0.12901 0.719381 0.863397721662293 0 0.0410947373611941 FALSE 4.06072e-06 ENSE00001233002_009 ENSE00001233002 009 12 56749192 56749361 - 35 90 45 C T 56749295 2114 67 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTTGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355510 56355511 56355511 exon 22 0.244444444444444 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCAAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant NA NA NA NA NA 317 781 0 0.000409660131565682 0.000204830065782841 0.0166974331253219 0 0.827653747243524 0.806623774674072 NA NA -0.827653747243524 -0.806214114542506 0.00834871656266097 0.817138760958798 NA -0.816933930893015 NA TRUE NA 0 -0.236 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA TCG C,T 3.295e-05 12:56355511 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 missense_variant 0.460427 0.17339 0.04416 0.719381 0.803497682034489 0 0.0410947373611941 FALSE 2.43661e-05 ENSE00001233002_010 ENSE00001233002 010 12 56749192 56749361 - 35 90 45 G A 56749296 2115 66 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCAAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355511 56355512 56355512 exon 21 0.233333333333333 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTTGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant 164 140 0 0 0 113 80 0 0.00402644999047412 0.00201322499523706 0.0166974331253219 0 0.827653747243524 0.806623774674072 -0.0166974331253219 0 -0.827653747243524 -0.802597324683598 0.00834871656266097 0.817138760958798 -0.00834871656266097 -0.815125535963561 0.8067768194009 TRUE FALSE 0 -3.808 rs148272090 upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs148272090 1 NA A:0.0002 A:0.0003 CGA G,A 0.0001894 12:56355512 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 synonymous_variant -0.43104 0.04784 0.00538 0.719381 0.671286815901837 0 0.0410947373611941 FALSE 0.000207117 ENSE00001233002_012 ENSE00001233002 012 12 56749192 56749361 - 35 90 45 T C 56749315 2117 47 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTCCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355530 56355531 56355531 exon 2 0.0222222222222222 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGGACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant 404 54 0 0 0 20 61 0 0 0 0.0166974331253219 0 0.827653747243524 0.806623774674072 -0.0166974331253219 0 -0.827653747243524 -0.806623774674072 0.00834871656266097 0.817138760958798 -0.00834871656266097 -0.817138760958798 0.808790044396137 TRUE FALSE 0.979 1.759 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs537645066 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTC T,C 8.236e-06 12:56355531 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 missense_variant 0.794894 0.87009 0.73941 0.719381 0.854876319924004 0 0.0410947373611941 FALSE 4.06124e-06 ENSE00001233002_013 ENSE00001233002 013 12 56749192 56749361 - 35 90 45 G A 56749326 2118 36 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAAAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATG 56355407 56355577 56355541 56355542 56355542 upstr_intron -10 -0.2 CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTTTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant NA NA NA NA NA 29 342 0.95 0.918740922886781 0.93437046144339 0.0166974331253219 0 0.827653747243524 0.806623774674072 NA NA 0.122346252756476 0.112117148212708 0.00834871656266097 0.817138760958798 NA 0.117231700484592 NA FALSE NA 0.691 0.785 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA AGA G,A 1.647e-05 12:56355542 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 intron_variant 1.950901 0.87902 0.70557 0.160075 0.792921768352802 0.185163 0.0410947373611941 FALSE 2.03057e-05 ENSE00001233002_016 ENSE00001233002 016 12 56749192 56749361 - 35 90 45 A C 56749345 2121 17 CGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTCACTCTGGCCTTTCATG 56355407 56355577 56355560 56355561 56355561 upstr_intron -29 -0.622222222222222 CATGAAAGGCCAGAGTGAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG CATGAAAGGCCAGAGTTAAAACGTGCTCAGAGCCTCTTTTTTCAGGAACAAGGAGAGCCAGTTCTCGAAACACCTGTGGAGAGCCAGCAACATGAGATTGAATCCCGGATCCTGGATTTAAGGGCTATGATGGAGGTTAGTAGATGTGGTAGGAGTTAGGGTTGACAGCG mutant 73 38 0.017921362932996 0 0.00896068146649798 129 43 0.8 0.95 0.875 0.0166974331253219 0 0.827653747243524 0.806623774674072 0.00122392980767404 0 -0.0276537472435244 0.143376225325928 0.00834871656266097 0.817138760958798 0.000611964903837019 0.0578612390412017 0.0572492741373646 FALSE FALSE 0.012 2.786 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA TAA A,C 8.236e-06 12:56355561 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003609916 intron_variant 1.088892 0.39895 0.47865 0.160075 0.755765397599813 0.132085 0.0410947373611941 FALSE 4.06217e-06 ENSE00001233510_000 ENSE00001233510 000 19 39867298 39867467 + 47 87 36 NA NA NA NA NA TGGCTGGCCTTGAAGATGCAGAAACCAGGTCCTCACCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTGACGTTCTGTGATAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 NA NA NA NA NA NA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA natural 36 28 0.990509287741158 0.986226090250403 0.98836768899578 2050 392 0.997246370841391 0.98820706015308 0.992726715497235 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 0 0 0 0 0.98836768899578 0.992726715497235 0 0 0 FALSE FALSE NA NA NA NA NA SAMD4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAMD4B NA NA NA ENSG00000179134 ENSE00001233510 NA NA NA NA NA NA NA 0.998551353474612 TRUE NA ENSE00001233510_001 ENSE00001233510 001 19 39867298 39867467 + 47 87 36 A G 39867314 2339 17 TGGCTGGCCTTGAAGATGCAGAAACCAGGTCCTCACCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTGACGTTCTGTGATAAGGGCAGAAGGGGACAGGAAGCCAGAGATGTGAGGCTGA 39376657 39376827 39376673 39376674 39376674 upstr_intron -31 -0.638297872340426 TCAGCCTCACATCTCTGGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA mutant NA NA NA NA NA 165 139 1 0.986997303084573 0.993498651542287 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA 0.00275362915860933 -0.00120975706850646 0.98836768899578 0.992726715497235 NA 0.000771936045051436 NA FALSE NA 0.002 1.232 . upstream_gene_variant MODIFIER SAMD4B HGNC 25492 ENST00000595476 1 NA TAG A,G 8.237e-06 19:39376674 SAMD4B HGNC Symbol protein_coding 43314 ENSG00000179134 ENSE00001233510 intron_variant 0.511536 0.25886 0.09114 0.099367 0.722246491405578 0.0904628 0.998551353474612 TRUE 8.1408e-06 ENSE00001233510_004 ENSE00001233510 004 19 39867298 39867467 + 47 87 36 T C 39867339 2342 42 TGGCTGGCCTTGAAGATGCAGAAACCAGGTCCTCACCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTGACGTTCTGTGGTAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 39376698 39376699 39376699 upstr_intron -6 -0.106382978723404 TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTACCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA mutant NA NA NA NA NA 205 108 0.993605740653397 1 0.996802870326698 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA -0.00364063018799365 0.0117929398469204 0.98836768899578 0.992726715497235 NA 0.00407615482946339 NA FALSE NA 0 -0.057 . upstream_gene_variant MODIFIER SAMD4B HGNC 25492 ENST00000595476 1 NA ATC T,C 8.236e-06 19:39376699 SAMD4B HGNC Symbol protein_coding 43314 ENSG00000179134 ENSE00001233510 splice_region_variant 0.329252 0.19446 0.0607 0.156188 0.590751358333265 0.396556 0.998551353474612 TRUE 1.22127e-05 ENSE00001233510_006 ENSE00001233510 006 19 39867298 39867467 + 47 87 36 C T 39867350 2344 53 TGGCTGGCCTTGAAGATGCAGAAACCAGGTCCTCACCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTAACGTTCTGTGATAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 39376709 39376710 39376710 exon 6 0.0689655172413793 TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTTACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA mutant NA NA NA NA NA 37 25 0.95 0.986813965493753 0.968406982746876 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA -0.0472463708413907 -0.00139309465932702 0.98836768899578 0.992726715497235 NA -0.0243197327503589 NA FALSE NA 0.884 0.16 rs73547915 upstream_gene_variant MODIFIER SAMD4B HGNC 25492 ENST00000595476 rs73547915 1 T:0.0050 T:0.0182 T:0.0014 NA T:0 T:0 T:0 T:0.0184 T:0 TCA C,T 0.001656 19:39376710 SAMD4B HGNC Symbol protein_coding 43314 ENSG00000179134 ENSE00001233510 synonymous_variant 1.690602 0.9625 0.79621 0.706548 0.791867494389911 0 0.998551353474612 TRUE 0.00139046 ENSE00001233510_007 ENSE00001233510 007 19 39867298 39867467 + 47 87 36 C T 39867368 2345 71 TGGCTGGCCTTGAAGATGCAGAAACCAGGTCCTCACCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTATGGCGGGCACCTTTGGTGACGTTCTGTGATAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 39376727 39376728 39376728 exon 24 0.275862068965517 TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCATAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA mutant NA NA NA NA NA 10 150 0.95 0.974718549109755 0.962359274554878 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA -0.0472463708413906 -0.0134885110433242 0.98836768899578 0.992726715497235 NA -0.0303674409423574 NA FALSE NA 1 1.711 . upstream_gene_variant MODIFIER SAMD4B HGNC 25492 ENST00000595476 1 NA ACA C,T 8.236e-06 19:39376728 SAMD4B HGNC Symbol protein_coding 43314 ENSG00000179134 ENSE00001233510 synonymous_variant 1.664052 0.97594 0.91003 0.706548 0.791259981106205 0 0.998551353474612 TRUE 4.06114e-06 ENSE00001233510_008 ENSE00001233510 008 19 39867298 39867467 + 47 87 36 G A 39867397 2346 100 TGGCTGGCCTTGAAGATGCAGAAACCAGGTCCTCACCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCATGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTGACGTTCTGTGATAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 39376756 39376757 39376757 exon -35 0.609195402298851 TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCATGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA mutant NA NA NA NA NA 190 252 0.962819446885857 0.961341592307024 0.96208051959644 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA -0.0344269239555337 -0.0268654678460557 0.98836768899578 0.992726715497235 NA -0.0306461959007947 NA FALSE NA 0.719 5.015 . upstream_gene_variant MODIFIER SAMD4B HGNC 25492 ENST00000595476 rs571162695 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGT G,A 2.471e-05 19:39376757 SAMD4B HGNC Symbol protein_coding 43314 ENSG00000179134 ENSE00001233510 missense_variant 4.101943 0.98455 0.95286 0.706548 0.99847879346032 0 0.998551353474612 TRUE 2.43675e-05 ENSE00001233510_010 ENSE00001233510 010 19 39867298 39867467 + 47 87 36 G A 39867411 2348 114 TGGCTGGCCTTGAAGATGCAGAAACCAGGTCCTCACCTTCTCTAGGGACTTGAGGATGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTGACGTTCTGTGATAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 39376770 39376771 39376771 exon -21 0.770114942528736 TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCATCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA mutant NA NA NA NA NA 431 55 0.998848529407999 1 0.999424264703999 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA 0.00160215856660828 0.0117929398469204 0.98836768899578 0.992726715497235 NA 0.00669754920676435 NA FALSE NA 0.991 3.334 rs141485885 upstream_gene_variant MODIFIER SAMD4B HGNC 25492 ENST00000595476 rs141485885 1 NA A:0 A:0.0001 CGT G,A 1.647e-05 19:39376771 SAMD4B HGNC Symbol protein_coding 43314 ENSG00000179134 ENSE00001233510 missense_variant 3.015946 0.98434 0.9506 0.706548 0.997314457357466 0 0.998551353474612 TRUE 1.21869e-05 ENSE00001233510_015 ENSE00001233510 015 19 39867298 39867467 + 47 87 36 A G 39867438 2353 141 TGGCTGGCCTTGAAGATGCAGAAACCAGGCCCTCACCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTGACGTTCTGTGATAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 39376797 39376798 39376798 downstr_intron 7 1.2 TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGGCCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA mutant NA NA NA NA NA 60 49 0.810689442774313 0.980125280832832 0.895407361803572 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA -0.186556928067078 -0.00808177932024734 0.98836768899578 0.992726715497235 NA -0.0973193536936627 NA FALSE NA 0.008 1.533 . upstream_gene_variant MODIFIER SAMD4B HGNC 25492 ENST00000595476 1 NA GAC A,G 1.647e-05 19:39376798 SAMD4B HGNC Symbol protein_coding 43314 ENSG00000179134 ENSE00001233510 splice_region_variant 1.193365 0.8705 0.59181 0.062308 0.758825385520426 0.307357 0.998551353474612 TRUE 8.13769e-06 ENSE00001233510_016 ENSE00001233510 016 19 39867298 39867467 + 47 87 36 G C 39867443 2354 146 TGGCTGGCCTTGAAGATGCAGAAAGCAGGTCCTCACCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTGACGTTCTGTGATAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 39376802 39376803 39376803 downstr_intron 12 1.34285714285714 TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGCTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA mutant NA NA NA NA NA 64 3761 1 0.999210137942071 0.999605068971036 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA 0.00275362915860933 0.0110030777889918 0.98836768899578 0.992726715497235 NA 0.00687835347380056 NA FALSE NA 0 -0.325 . upstream_gene_variant MODIFIER SAMD4B HGNC 25492 ENST00000595476 1 NA GGT G,C 1.647e-05 19:39376803 SAMD4B HGNC Symbol protein_coding 43314 ENSG00000179134 ENSE00001233510 intron_variant -0.237139 0.17093 0.03944 0.062308 0.36771296795037 0.0925564 0.998551353474612 TRUE 8.15016e-06 ENSE00001233510_BRK ENSE00001233510 BRK 19 39867298 39867467 + 47 87 36 A,G; T,T NA NA NA TGGCTGGCCTTGAAGATGCAGAAACCAGGTCCTCGGCTTCTCTAGGGACTTGAGGACGCTCTGTCTCTCACGCAGCTTCTGGATGCTCAGGGCTATCTTGTGGCGGGCACCTTTGGTGACGTTAAGTGATAAGGGCAGAAGGGGACAGGAAGCTAGAGATGTGAGGCTGA 39376657 39376827 NA NA NA NA NA NA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACTTAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGCCGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA TCAGCCTCACATCTCTAGCTTCCTGTCCCCTTCTGCCCTTATCACAGAACGTCACCAAAGGTGCCCGCCACAAGATAGCCCTGAGCATCCAGAAGCTGCGTGAGAGACAGAGCGTCCTCAAGTCCCTAGAGAAGGTGAGGACCTGGTTTCTGCATCTTCAAGGCCAGCCA control NA NA NA NA NA 97 783 0 0.00111369450546262 0.000556847252731309 0.990509287741158 0.986226090250403 0.997246370841391 0.98820706015308 NA NA -0.997246370841391 -0.987093365647617 0.98836768899578 0.992726715497235 NA -0.992169868244504 NA TRUE NA NA NA NA NA NA SAMD4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAMD4B NA NA NA ENSG00000179134 ENSE00001233510 NA NA NA NA NA NA NA 0.998551353474612 TRUE NA ENSE00001235315_000 ENSE00001235315 000 3 119904114 119904283 - 32 96 42 NA NA NA NA NA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 NA NA NA NA NA NA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA natural 44 27 0.99379679167409 0.994895005085857 0.994345898379974 1343 1528 0.885427362361113 0.714493150260663 0.799960256310888 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 0 0 0 0 0.994345898379974 0.799960256310888 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GPR156 NA NA NA ENSG00000175697 ENSE00001235315 NA NA NA NA NA NA NA 3.67917855529623e-07 FALSE NA ENSE00001235315_001 ENSE00001235315 001 3 119904114 119904283 - 32 96 42 C T 119904124 2396 160 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATAGTCTCTGTCA 120185266 120185436 120185276 120185277 120185277 downstr_intron 22 1.70967741935484 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATAGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 365 29 0.994069209051903 1 0.997034604525952 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.108641846690791 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.197074348215064 NA FALSE NA 0.001 0.935 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:120185277 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 intron_variant 0.556292 0.12681 0.02874 0.053691 0.83013428695078 0.289973 3.67917855529623e-07 FALSE 3.26123e-05 ENSE00001235315_002 ENSE00001235315 002 3 119904114 119904283 - 32 96 42 C G 119904124 2397 160 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATCGTCTCTGTCA 120185266 120185436 120185276 120185277 120185277 downstr_intron 22 1.70967741935484 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATCGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 176 302 1 1 1 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.200039743689112 NA FALSE NA 0.001 0.935 NA NA NA GPR156 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GPR156 NA NA NA ENSG00000175697 ENSE00001235315 intron_variant 0.385138 0.15294 0.06981 0.053691 0.698427725836169 0.289973 3.67917855529623e-07 FALSE 4.07654e-06 ENSE00001235315_003 ENSE00001235315 003 3 119904114 119904283 - 32 96 42 A G 119904125 2398 159 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATACGGTCTCTGTCA 120185266 120185436 120185277 120185278 120185278 downstr_intron 21 1.67741935483871 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATACGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 87 963 1 0.99794730083056 0.99897365041528 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.283454150569897 0.994345898379974 0.799960256310888 NA 0.199013394104392 NA FALSE NA 0 -1.702 rs902791 intron_variant MODIFIER GPR156 HGNC 20844 ENST00000315843 6/8 rs902791 1 A:0.0980 G:0.8812 G:0.9265 NA G:0.9296 G:0.9284 G:0.8569 G:0.8763 G:0.9166 CAT A,G 0.913 3:120185278 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 intron_variant 0.406593 0.16109 0.0234 0.053691 0.634487910806802 0.289973 3.67917855529623e-07 FALSE 0.915472 ENSE00001235315_006 ENSE00001235315 006 3 119904114 119904283 - 32 96 42 A T 119904158 2401 126 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATATGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185310 120185311 120185311 exon -13 0.875 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATATGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 118 270 1 1 1 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.200039743689112 NA FALSE NA 1 2.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:120185311 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 synonymous_variant -0.259868 0.98247 0.93511 0.554377 0.761176754927969 0 3.67917855529623e-07 FALSE 0.000374045 ENSE00001235315_008 ENSE00001235315 008 3 119904114 119904283 - 32 96 42 A G 119904164 2403 120 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCCCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185316 120185317 120185317 exon -19 0.8125 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCCCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 791 121 0.99335384186717 1 0.996676920933585 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.107926479506058 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.196716664622697 NA FALSE NA 0.993 1.964 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:120185317 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 synonymous_variant 0.104677 0.97216 0.67919 0.554377 0.754751272145848 0 3.67917855529623e-07 FALSE 8.13107e-06 ENSE00001235315_009 ENSE00001235315 009 3 119904114 119904283 - 32 96 42 A C 119904164 2404 120 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCGCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185316 120185317 120185317 exon -19 0.8125 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCGCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 277 39 0.988460545982709 1 0.994230272991354 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.103033183621596 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.194270016680467 NA FALSE NA 0.993 1.964 NA NA NA GPR156 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GPR156 NA NA NA ENSG00000175697 ENSE00001235315 synonymous_variant -0.468886 0.97821 0.88886 0.554377 0.759669459845807 0 3.67917855529623e-07 FALSE NA ENSE00001235315_010 ENSE00001235315 010 3 119904114 119904283 - 32 96 42 A G 119904168 2405 116 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGACTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185320 120185321 120185321 exon -23 0.770833333333333 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGACTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 1202 331 0.998766301132143 1 0.999383150566072 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.113338938771031 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.199422894255184 NA FALSE NA 1 5.138 . missense_variant MODERATE GPR156 HGNC 20844 ENST00000315843 6/9 1 deleterious(0) probably_damaging(1) NA AAT A,G 8.236e-06 3:120185321 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 missense_variant 4.45421 0.98598 0.94449 0.554377 0.992162629273959 0 3.67917855529623e-07 FALSE 8.12922e-06 ENSE00001235315_011 ENSE00001235315 011 3 119904114 119904283 - 32 96 42 A G 119904174 2406 110 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGCTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185326 120185327 120185327 exon -29 0.708333333333333 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGCTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 1350 994 1 0.996876302850108 0.998438151425054 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.282383152589445 0.994345898379974 0.799960256310888 NA 0.198477895114166 NA FALSE NA 1 6.773 rs151169068 missense_variant MODERATE GPR156 HGNC 20844 ENST00000315843 6/9 rs151169068 1 deleterious(0.01) probably_damaging(0.996) NA G:0.0007 G:0 AAC A,G 6.589e-05 3:120185327 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 missense_variant 5.677987 0.99265 0.98534 0.554377 0.998704076524791 0 3.67917855529623e-07 FALSE 3.65824e-05 ENSE00001235315_013 ENSE00001235315 013 3 119904114 119904283 - 32 96 42 C T 119904178 2408 106 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCAATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185330 120185331 120185331 exon -33 0.666666666666667 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCAATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 191 14 0.871397648254285 0.997234482862909 0.934316065558597 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA -0.0140297141068273 0.282741332602245 0.994345898379974 0.799960256310888 NA 0.134355809247709 NA FALSE NA 0.998 5.68 . missense_variant MODERATE GPR156 HGNC 20844 ENST00000315843 6/9 1 deleterious(0) probably_damaging(1) NA TCG C,T 2.471e-05 3:120185331 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 missense_variant 7.02215 0.99386 0.97766 0.554377 0.999261958854296 0 3.67917855529623e-07 FALSE 3.25182e-05 ENSE00001235315_015 ENSE00001235315 015 3 119904114 119904283 - 32 96 42 T A 119904183 2410 101 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTTTTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185335 120185336 120185336 exon -38 0.614583333333333 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTTTTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 163 166 1 1 1 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.200039743689112 NA FALSE NA 1 5.837 . missense_variant MODERATE GPR156 HGNC 20844 ENST00000315843 6/9 1 deleterious(0) probably_damaging(0.999) NA ATA T,A 8.236e-06 3:120185336 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 missense_variant 5.822916 0.99203 0.97868 0.554377 0.987625303619211 0 3.67917855529623e-07 FALSE 4.06412e-06 ENSE00001235315_017 ENSE00001235315 017 3 119904114 119904283 - 32 96 42 G A 119904187 2412 97 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCTGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185339 120185340 120185340 exon -42 0.572916666666667 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCTGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 340 1047 0.999149629494122 0.999343033063265 0.999246331278694 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.113722267133009 0.284849882802602 0.994345898379974 0.799960256310888 NA 0.199286074967806 NA FALSE NA 0.973 2.393 rs145207432 missense_variant MODERATE GPR156 HGNC 20844 ENST00000315843 6/9 rs145207432 1 deleterious(0.01) possibly_damaging(0.851) A:0.0028 A:0.0098 A:0.0014 NA A:0 A:0 A:0 A:0.0034 A:0.0001 CGG G,A 0.0003706 3:120185340 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 missense_variant 7.145338 0.982 0.88334 0.554377 0.999089195562182 0 3.67917855529623e-07 FALSE 0.000276387 ENSE00001235315_019 ENSE00001235315 019 3 119904114 119904283 - 32 96 42 C T 119904212 2414 72 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCAACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185364 120185365 120185365 exon 30 0.3125 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCAACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 47 542 1 0.99851170623432 0.99925585311716 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.284018555973656 0.994345898379974 0.799960256310888 NA 0.199295596806272 NA FALSE NA 0.997 0.505 . synonymous_variant LOW GPR156 HGNC 20844 ENST00000315843 6/9 rs368903388 1 NA T:0 T:0.0001 TCG C,T 1.647e-05 3:120185365 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 synonymous_variant 2.03914 0.97675 0.78441 0.554377 0.664689655927774 0 3.67917855529623e-07 FALSE 1.21928e-05 ENSE00001235315_020 ENSE00001235315 020 3 119904114 119904283 - 32 96 42 G A 119904213 2415 71 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTTGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185365 120185366 120185366 exon 29 0.302083333333333 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTTGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 38 615 1 0.996198567219493 0.998099283609746 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.28170541695883 0.994345898379974 0.799960256310888 NA 0.198139027298859 NA FALSE NA 0.997 3.089 . missense_variant MODERATE GPR156 HGNC 20844 ENST00000315843 6/9 1 tolerated(1) benign(0) NA CGA G,A 6.589e-05 3:120185366 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 missense_variant 1.508622 0.93587 0.06024 0.554377 0.420288090172409 0 3.67917855529623e-07 FALSE 6.50348e-05 ENSE00001235315_021 ENSE00001235315 021 3 119904114 119904283 - 32 96 42 G A 119904221 2416 63 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCTTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185373 120185374 120185374 exon 21 0.21875 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCTTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 51 62 0.96071481774334 1 0.98035740887167 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.075287455382227 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.180397152560782 NA FALSE NA 1 0.767 . synonymous_variant LOW GPR156 HGNC 20844 ENST00000315843 6/9 1 NA AGG G,A 3.295e-05 3:120185374 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 synonymous_variant 0.874583 0.98373 0.85399 0.554377 0.696387161848092 0 3.67917855529623e-07 FALSE 2.43912e-05 ENSE00001235315_022 ENSE00001235315 022 3 119904114 119904283 - 32 96 42 C T 119904226 2417 58 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACATGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185378 120185379 120185379 exon 16 0.166666666666667 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACATGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 463 256 0.99432484847735 1 0.997162424238675 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.108897486116238 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.197202167927787 NA FALSE NA 0.329 0.855 rs75651994 missense_variant MODERATE GPR156 HGNC 20844 ENST00000315843 6/9 rs75651994 1 tolerated(0.89) benign(0.107) T:0.0048 T:0.0166 T:0.0029 NA T:0 T:0 T:0 T:0.0116 T:0.0001 ACG C,T 0.00154 3:120185379 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 missense_variant 3.441262 0.94721 0.2005 0.554377 0.986931792004467 0 3.67917855529623e-07 FALSE 0.00124415 ENSE00001235315_023 ENSE00001235315 023 3 119904114 119904283 - 32 96 42 G A 119904227 2418 57 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGATGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185379 120185380 120185380 exon 15 0.15625 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGATGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 223 2722 1 0.992731313732126 0.996365656866063 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.278238163471463 0.994345898379974 0.799960256310888 NA 0.196405400555175 NA FALSE NA 0.001 -1.935 . synonymous_variant LOW GPR156 HGNC 20844 ENST00000315843 6/9 1 NA CGT G,A 1.647e-05 3:120185380 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 synonymous_variant 0.932616 0.38494 0.02769 0.554377 0.648339088483314 0 3.67917855529623e-07 FALSE 2.03303e-05 ENSE00001235315_024 ENSE00001235315 024 3 119904114 119904283 - 32 96 42 T C 119904230 2419 54 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAGGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185382 120185383 120185383 exon 12 0.125 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAGGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 231 597 0.993298511196117 1 0.996649255598058 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.107871148835004 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.19668899928717 NA FALSE NA 1 0.476 . synonymous_variant LOW GPR156 HGNC 20844 ENST00000315843 6/9 1 NA CTT T,C 8.236e-06 3:120185383 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 synonymous_variant -0.355391 0.97833 0.75773 0.554377 0.645995002477357 0 3.67917855529623e-07 FALSE 4.0662e-06 ENSE00001235315_025 ENSE00001235315 025 3 119904114 119904283 - 32 96 42 G A 119904237 2420 47 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGATAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185389 120185390 120185390 exon 5 0.0520833333333333 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGATAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 209 18 1 1 1 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.200039743689112 NA FALSE NA 1 5.291 rs76885361 missense_variant MODERATE GPR156 HGNC 20844 ENST00000315843 6/9 rs76885361 1 deleterious(0.01) possibly_damaging(0.771) A:0.0078 A:0.0265 A:0.0058 NA A:0 A:0 A:0 A:0.022 A:0.0001 TGT G,A 0.002084 3:120185390 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 missense_variant 4.481487 0.98699 0.94323 0.554377 0.993767508541979 0 3.67917855529623e-07 FALSE 0.00174487 ENSE00001235315_026 ENSE00001235315 026 3 119904114 119904283 - 32 96 42 G T 119904249 2421 35 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCACTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185401 120185402 120185402 upstr_intron -8 -0.166666666666667 TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCACTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 30 85 1 1 1 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.200039743689112 NA FALSE NA 1 3.049 . splice_region_variant&intron_variant LOW GPR156 HGNC 20844 ENST00000315843 5/8 rs371408152 1 NA T:0 T:0.0001 GGG G,T 8.236e-06 3:120185402 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 splice_region_variant 0.649948 0.97724 0.96762 0.053691 0.577593083610226 0.874896 3.67917855529623e-07 FALSE 4.0699e-06 ENSE00001235315_028 ENSE00001235315 028 3 119904114 119904283 - 32 96 42 A G 119904264 2423 20 TAATTGTGGGCACCTCCAGCTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 120185416 120185417 120185417 upstr_intron -23 -0.523809523809524 TAATTGTGGGCACCTCCAGCTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA mutant NA NA NA NA NA 64 530 1 1 1 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.114572637638887 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.200039743689112 NA FALSE NA 0.041 1.126 . intron_variant MODIFIER GPR156 HGNC 20844 ENST00000315843 5/8 1 NA AAC A,G 8.237e-06 3:120185417 GPR156 HGNC Symbol protein_coding 120449 ENSG00000175697 ENSE00001235315 intron_variant 0.266824 0.31404 0.12751 0.053691 0.679933176956076 0.168359 3.67917855529623e-07 FALSE 4.07455e-06 ENSE00001235315_BRK ENSE00001235315 BRK 3 119904114 119904283 - 32 96 42 A,G; T,T NA NA NA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTTTGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGCCTGGTAACCACATCTGATATGGTCTCTGTCA 120185266 120185436 NA NA NA NA NA NA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTTTGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGCCTGGTAACCACATCTGATATGGTCTCTGTCA TAATTGTGGGCACCTCCAGTTCTGACTCTGTGTCCCTTCTAGGTGACAGGGAAAGACGTGTCCTGCACTTCGACCAGCACCCACTTCTGTGCTTCCCGGTATTCCGATGTTTGGATTGCTCTCATTTGGGGATGCAAGGTTGGTAACCACATCTGATATGGTCTCTGTCA control NA NA NA NA NA 983 46 0.995921701450675 1 0.997960850725338 0.99379679167409 0.994895005085857 0.885427362361113 0.714493150260663 NA NA 0.110494339089563 0.285506849739337 0.994345898379974 0.799960256310888 NA 0.19800059441445 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001235315 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001235373_000 ENSE00001235373 000 15 75816515 75816684 - 35 90 45 NA NA NA NA NA TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 NA NA NA NA NA NA TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT natural 32 44 0.997901845554649 0.999882521546382 0.998892183550516 3393 6516 0.987432890995747 0.960336606515104 0.973884748755425 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 0 0 0 0 0.998892183550516 0.973884748755425 0 0 0 FALSE FALSE NA NA NA NA NA CTD-2323K18.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN9 NA NA NA ENSG00000169410 ENSE00001235373 NA NA NA NA NA NA NA 0.9862836143924 TRUE NA ENSE00001235373_001 ENSE00001235373 001 15 75816515 75816684 - 35 90 45 T C 75816531 1976 154 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTGTCTTGTAGGGCCTTAT 75524173 75524343 75524189 75524190 75524190 downstr_intron 19 1.55882352941176 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTGTCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 951 1638 0.997481197670442 0.877858319889844 0.937669758780143 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0100483066746954 -0.0824782866252599 0.998892183550516 0.973884748755425 NA -0.0362149899752823 NA FALSE NA 0 -3.361 rs185573097 downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 rs185573097 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATA T,C 3.295e-05 15:75524190 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 intron_variant -0.243682 0.08236 0.00595 0.322412 0.527166949644518 0.0648931 0.9862836143924 TRUE 2.0687e-05 ENSE00001235373_002 ENSE00001235373 002 15 75816515 75816684 - 35 90 45 C T 75816538 1977 147 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAAGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524196 75524197 75524197 downstr_intron 12 1.35294117647059 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAAGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 452 477 1 0.993437499132041 0.996718749566021 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0125671090042534 0.0331008926169368 0.998892183550516 0.973884748755425 NA 0.0228340008105951 NA FALSE NA 0 -0.086 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 rs544308988 1 NA CCT C,T 0.00014 15:75524197 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 intron_variant 0.316489 0.22591 0.01383 0.322412 0.68117923433066 0.0573265 0.9862836143924 TRUE 0.000138292 ENSE00001235373_003 ENSE00001235373 003 15 75816515 75816684 - 35 90 45 A C 75816552 1978 133 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCGTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524210 75524211 75524211 exon -3 0.977777777777778 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCGTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 919 156 0.840011402841438 0.917960288018375 0.878985845429907 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA -0.147421488154308 -0.0423763184967288 0.998892183550516 0.973884748755425 NA -0.0948989033255186 NA FALSE NA 1 1.888 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 1 NA AAG A,C 1.647e-05 15:75524211 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 missense_variant 4.471519 0.96796 0.9612 0.732398 0.997700757872685 0 0.9862836143924 TRUE 1.62455e-05 ENSE00001235373_004 ENSE00001235373 004 15 75816515 75816684 - 35 90 45 A G 75816554 1979 131 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCACCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524212 75524213 75524213 exon -5 0.955555555555556 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCACCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 1130 2249 0.998641104191756 1 0.999320552095878 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0112082131960091 0.0396633934848957 0.998892183550516 0.973884748755425 NA 0.0254358033404524 NA FALSE NA 1 8.611 rs150017042 downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 rs150017042 1 NA G:0.0002 G:0 GAT A,G 8.236e-06 15:75524213 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 missense_variant 5.619822 0.99161 0.99732 0.732398 0.996821418475548 0 0.9862836143924 TRUE 8.12249e-06 ENSE00001235373_005 ENSE00001235373 005 15 75816515 75816684 - 35 90 45 G T 75816574 1980 111 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATACTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524232 75524233 75524233 exon -25 0.733333333333333 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATACTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 256 805 1 0.995157287086337 0.997578643543169 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0125671090042534 0.0348206805712329 0.998892183550516 0.973884748755425 NA 0.0236938947877431 NA FALSE NA 1 1.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:75524233 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 synonymous_variant 1.00037 0.97507 0.90862 0.732398 0.764789776556917 0 0.9862836143924 TRUE 8.12189e-06 ENSE00001235373_006 ENSE00001235373 006 15 75816515 75816684 - 35 90 45 G C 75816574 1981 111 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATGCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524232 75524233 75524233 exon -25 0.733333333333333 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATGCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 195 77 1 0.959760280386614 0.979880140193307 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0125671090042534 -0.000576326128490123 0.998892183550516 0.973884748755425 NA 0.00599539143788164 NA FALSE NA 1 1.687 NA NA NA CTD-2323K18.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN9 NA NA NA ENSG00000169410 ENSE00001235373 missense_variant 4.179598 0.9731 0.73228 0.732398 0.993395894828626 0 0.9862836143924 TRUE 2.84266e-05 ENSE00001235373_007 ENSE00001235373 007 15 75816515 75816684 - 35 90 45 C T 75816584 1982 101 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCATTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524242 75524243 75524243 exon -35 0.622222222222222 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCATTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant 43 38 0.977299989016205 0.916754739600001 0.947027364308103 429 443 1 0.988188759587194 0.994094379793597 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 -0.0206018565384437 -0.0831277819463818 0.0125671090042534 0.0278521530720898 0.998892183550516 0.973884748755425 -0.0518648192424128 0.0202096310381716 0.0720744502805843 FALSE FALSE 1 4.292 rs141342401 downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 rs141342401 1 NA T:0.0002 T:0 ACG C,T 8.236e-06 15:75524243 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 missense_variant 7.474789 0.98781 0.98265 0.732398 0.999435356087895 0 0.9862836143924 TRUE 1.6245e-05 ENSE00001235373_010 ENSE00001235373 010 15 75816515 75816684 - 35 90 45 A G 75816598 1985 87 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCACGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524256 75524257 75524257 exon 42 0.466666666666667 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCACGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 1502 714 0.996572380780174 0.99858825831167 0.997580319545922 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.00913948978442691 0.0382516517965652 0.998892183550516 0.973884748755425 NA 0.0236955707904961 NA FALSE NA 0.828 0.013 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 1 NA CAT A,G 8.236e-06 15:75524257 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 synonymous_variant 0.609551 0.95831 0.62964 0.732398 0.737990333813801 0 0.9862836143924 TRUE 4.06095e-06 ENSE00001235373_011 ENSE00001235373 011 15 75816515 75816684 - 35 90 45 G C 75816600 1986 85 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTGATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524258 75524259 75524259 exon 40 0.444444444444444 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTGATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 1225 1184 0.994449343884777 0.998634302050081 0.996541822967429 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.00701645288903041 0.0382976955349762 0.998892183550516 0.973884748755425 NA 0.0226570742120033 NA FALSE NA 1 7.364 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 1 NA TGA G,C 8.236e-06 15:75524259 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 missense_variant 2.33151 0.98706 0.98826 0.732398 0.98273139809551 0 0.9862836143924 TRUE 8.12209e-06 ENSE00001235373_012 ENSE00001235373 012 15 75816515 75816684 - 35 90 45 G A 75816602 1987 83 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACTTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524260 75524261 75524261 exon 38 0.422222222222222 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACTTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 585 789 0.996356072820389 0.994752230096723 0.995554151458556 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.00892318182464269 0.0344156235816182 0.998892183550516 0.973884748755425 NA 0.0216694027031304 NA FALSE NA 1 9.134 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 1 NA AGG G,A 2.471e-05 15:75524261 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 missense_variant 6.500019 0.99199 0.99352 0.732398 0.998299802100306 0 0.9862836143924 TRUE 1.21832e-05 ENSE00001235373_013 ENSE00001235373 013 15 75816515 75816684 - 35 90 45 T C 75816622 1988 63 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAGGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524280 75524281 75524281 exon 18 0.2 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAGGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 606 814 0.967546255750535 0.998293159527406 0.98291970763897 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA -0.0198866352452113 0.0379565530123013 0.998892183550516 0.973884748755425 NA 0.009034958883545 NA FALSE NA 0.997 0.349 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 1 NA CTT T,C 8.236e-06 15:75524281 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 synonymous_variant 0.123772 0.96537 0.79793 0.732398 0.759621479330467 0 0.9862836143924 TRUE 4.06147e-06 ENSE00001235373_014 ENSE00001235373 014 15 75816515 75816684 - 35 90 45 C A 75816632 1989 53 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCTAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524290 75524291 75524291 exon 8 0.0888888888888889 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCTAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 699 117 1 0.998645855363458 0.999322927681729 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0125671090042534 0.0383092488483534 0.998892183550516 0.973884748755425 NA 0.0254381789263034 NA FALSE NA 1 7.218 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 COSM22181 1 NA TCG C,A 9.06e-05 15:75524291 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 missense_variant 7.569472 0.99213 0.99193 0.732398 0.998735805924883 0 0.9862836143924 TRUE 5.28005e-05 ENSE00001235373_015 ENSE00001235373 015 15 75816515 75816684 - 35 90 45 G A 75816647 1990 38 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCTTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524305 75524306 75524306 upstr_intron -8 -0.155555555555556 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCTTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 404 79 1 1 1 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0125671090042534 0.0396633934848957 0.998892183550516 0.973884748755425 NA 0.0261152512445745 NA FALSE NA 0.624 -0.391 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 rs373284531 1 NA A:0.0002 A:0 AGG G,A 8.237e-06 15:75524306 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 splice_region_variant 0.951889 0.1681 0.06057 0.099367 0.725847563675308 0.423057 0.9862836143924 TRUE NA ENSE00001235373_016 ENSE00001235373 016 15 75816515 75816684 - 35 90 45 G A 75816648 1991 37 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTTCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524306 75524307 75524307 upstr_intron -9 -0.177777777777778 TACAGTATTTTCATATTAATACATTTTGCTGTGCTTTCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 1908 1430 0.997756711220413 0.999889388305579 0.998823049762996 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.010323820224666 0.0395527817904752 0.998892183550516 0.973884748755425 NA 0.0249383010075706 NA FALSE NA 0.973 3.597 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 rs540048160 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGA G,A 1.647e-05 15:75524307 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 intron_variant 1.806505 0.25092 0.25051 0.099367 0.770180934875111 0.423057 0.9862836143924 TRUE 8.12909e-06 ENSE00001235373_017 ENSE00001235373 017 15 75816515 75816684 - 35 90 45 A C 75816649 1992 36 TACAGTATTTTCATATTAATACATTTTGCTGTGCTGCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524307 75524308 75524308 upstr_intron -10 -0.2 TACAGTATTTTCATATTAATACATTTTGCTGTGCTGCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant 34 50 0.85 0.85 0.85 99 242 0.907717444243403 0.79177878409526 0.849748114169332 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 -0.147901845554649 -0.149882521546382 -0.0797154467523437 -0.168557822419844 0.998892183550516 0.973884748755425 -0.148892183550516 -0.124136634586094 0.0247555489644219 FALSE FALSE 0.958 0.937 rs12904319 downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 rs12904319 1 C:0.1362 C:0.0514 C:0.0994 NA C:0.2778 C:0.1243 C:0.1431 C:0.0589 C:0.1263 GAA A,C 0.116 15:75524308 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 intron_variant 0.923847 0.27124 0.35705 0.099367 0.718525954238197 0.423057 0.9862836143924 TRUE 0.117964 ENSE00001235373_018 ENSE00001235373 018 15 75816515 75816684 - 35 90 45 G T 75816651 1993 34 TACAGTATTTTCATATTAATACATTTTGCTGTGATTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524309 75524310 75524310 upstr_intron -12 -0.244444444444444 TACAGTATTTTCATATTAATACATTTTGCTGTGATTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 424 320 1 0.980740961089725 0.990370480544862 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0125671090042534 0.0204043545746204 0.998892183550516 0.973884748755425 NA 0.0164857317894369 NA FALSE NA 0 -1.116 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 rs367608596 1 NA T:0 T:0.0001 AGC G,T 8.237e-06 15:75524310 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 intron_variant -0.194318 0.19785 0.11471 0.099367 0.727336220791492 0.253338 0.9862836143924 TRUE 8.13048e-06 ENSE00001235373_019 ENSE00001235373 019 15 75816515 75816684 - 35 90 45 C G 75816652 1994 33 TACAGTATTTTCATATTAATACATTTTGCTGTCCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524310 75524311 75524311 upstr_intron -13 -0.266666666666667 TACAGTATTTTCATATTAATACATTTTGCTGTCCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 1498 699 0.977992009680984 1 0.988996004840492 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA -0.00944088131476273 0.0396633934848957 0.998892183550516 0.973884748755425 NA 0.0151112560850665 NA FALSE NA 0 -0.559 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 1 NA GCA C,G 8.237e-06 15:75524311 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 intron_variant 0.23236 0.22091 0.09871 0.099367 0.488080371374805 0.253338 0.9862836143924 TRUE 4.06531e-06 ENSE00001235373_020 ENSE00001235373 020 15 75816515 75816684 - 35 90 45 T C 75816662 1995 23 TACAGTATTTTCATATTAATACGTTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524320 75524321 75524321 upstr_intron -23 -0.488888888888889 TACAGTATTTTCATATTAATACGTTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant 11 22 1 0.928413956468144 0.964206978234072 1067 1118 0.997858518462145 0.973628913822202 0.985743716142173 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 0.00209815444535089 -0.0714685650782383 0.0104256274663985 0.0132923073070974 0.998892183550516 0.973884748755425 -0.0346852053164437 0.011858967386748 0.0465441727031917 FALSE FALSE 0.005 0.88 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 1 NA ATG T,C 8.237e-06 15:75524321 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 intron_variant 0.168493 0.18824 0.02077 0.099367 0.75760164738786 0.183126 0.9862836143924 TRUE 8.14405e-06 ENSE00001235373_021 ENSE00001235373 021 15 75816515 75816684 - 35 90 45 G A 75816663 1996 22 TACAGTATTTTCATATTAATATATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 75524321 75524322 75524322 upstr_intron -24 -0.511111111111111 TACAGTATTTTCATATTAATATATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT mutant NA NA NA NA NA 2741 216 0.998675627988114 1 0.999337813994057 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 NA NA 0.0112427369923677 0.0396633934848957 0.998892183550516 0.973884748755425 NA 0.0254530652386317 NA FALSE NA 0 -0.59 . downstream_gene_variant MODIFIER CTD-2323K18.1 Clone_based_vega_gene NA ENST00000565138 1 NA TGT G,A 8.237e-06 15:75524322 PTPN9 HGNC Symbol protein_coding 116038 ENSG00000169410 ENSE00001235373 intron_variant -0.000202 0.05751 0.00539 0.099367 0.678707252689503 0.286369 0.9862836143924 TRUE 4.07471e-06 ENSE00001235373_BRK ENSE00001235373 BRK 15 75816515 75816684 - 35 90 45 A,G; T,T NA NA NA TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTTTGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTACCGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT 75524173 75524343 NA NA NA NA NA NA TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTTTGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTACCGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT TACAGTATTTTCATATTAATACATTTTGCTGTGCTTCCTTTTTAGGAAACTCGAAGGAAGGAAGGCATTGTAAAGCTGAAACCTCATGAGGAACCTCTTCGTTCTGAGATCCTCAGTGGAAAATTCACCATCTTAGTGAGTGTTTAGGGACCTATCTTGTAGGGCCTTAT control 59 112 0 0 0 4010 38 0.572153207172042 0.432048816264574 0.502101011718308 0.997901845554649 0.999882521546382 0.987432890995747 0.960336606515104 -0.997901845554649 -0.999882521546382 -0.415279683823704 -0.52828779025053 0.998892183550516 0.973884748755425 -0.998892183550516 -0.471783737037117 0.527108446513398 FALSE TRUE NA NA NA NA NA CTD-2323K18.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN9 NA NA NA ENSG00000169410 ENSE00001235373 NA NA NA NA NA NA NA 0.9862836143924 TRUE NA ENSE00001235458_000 ENSE00001235458 000 19 33655047 33655216 + 56 69 45 NA NA NA NA NA TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 NA NA NA NA NA NA TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT natural 21 36 1 0.984749539601439 0.99237476980072 3157 3341 0.989224750043948 0.86604533965566 0.927635044849804 1 0.984749539601439 0.989224750043948 0.86604533965566 0 0 0 0 0.99237476980072 0.927635044849804 0 0 0 FALSE FALSE NA NA NA NA NA WDR88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR88 NA NA NA ENSG00000166359 ENSE00001235458 NA NA NA NA NA NA NA 3.2982521257479e-08 FALSE NA ENSE00001235458_002 ENSE00001235458 002 19 33655047 33655216 + 56 69 45 C A 33655068 1986 22 TTGTTCTTTCAAAATTATTTTATCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164161 33164162 33164162 upstr_intron -35 -0.607142857142857 TTGTTCTTTCAAAATTATTTTATCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 1313 1011 0.99743320650987 0.998704843563851 0.998069025036861 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.00820845646592161 0.132659503908192 0.99237476980072 0.927635044849804 NA 0.0704339801870567 NA FALSE NA 0 -0.74 . intron_variant MODIFIER WDR88 HGNC 26999 ENST00000355868 8/10 rs564713645 1 NA TCT C,A 8.236e-06 19:33164162 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant 0.377646 0.20177 0.01211 0.053691 0.617084378609843 0.0448725 3.2982521257479e-08 FALSE 4.06352e-06 ENSE00001235458_003 ENSE00001235458 003 19 33655047 33655216 + 56 69 45 C T 33655073 1987 27 TTGTTCTTTCAAAATTATTTTCTCCATGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164166 33164167 33164167 upstr_intron -30 -0.517857142857143 TTGTTCTTTCAAAATTATTTTCTCCATGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 330 456 0.996733305897042 0.982231322450407 0.989482314173725 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.00750855585309429 0.116185982794747 0.99237476980072 0.927635044849804 NA 0.0618472693239208 NA FALSE NA 0 -0.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:33164167 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant -0.466257 0.12121 0.0098 0.053691 0.378440627581317 0.0847708 3.2982521257479e-08 FALSE 0.00165353 ENSE00001235458_004 ENSE00001235458 004 19 33655047 33655216 + 56 69 45 C G 33655073 1988 27 TTGTTCTTTCAAAATTATTTTCTCCAGGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164166 33164167 33164167 upstr_intron -30 -0.517857142857143 TTGTTCTTTCAAAATTATTTTCTCCAGGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 1644 739 1 0.997111384116182 0.998555692058091 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.0107752499560518 0.131066044460522 0.99237476980072 0.927635044849804 NA 0.0709206472082871 NA FALSE NA 0 -0.71 NA NA NA WDR88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR88 NA NA NA ENSG00000166359 ENSE00001235458 intron_variant -0.671489 0.05008 3e-04 0.053691 0.358716364943543 0.0847708 3.2982521257479e-08 FALSE 4.06273e-06 ENSE00001235458_005 ENSE00001235458 005 19 33655047 33655216 + 56 69 45 G A 33655074 1989 28 TTGTTCTTTCAAAATTATTTTCTCCACATTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164167 33164168 33164168 upstr_intron -29 -0.5 TTGTTCTTTCAAAATTATTTTCTCCACATTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 518 398 0.920189548532555 0.99034135230952 0.955265450421038 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.0690352015113928 0.12429601265386 0.99237476980072 0.927635044849804 NA 0.0276304055712338 NA FALSE NA 0 -1.221 rs147630162 intron_variant MODIFIER WDR88 HGNC 26999 ENST00000355868 8/10 rs147630162 1 A:0.0026 A:0.0091 A:0.0014 NA A:0 A:0 A:0 A:0.0104 A:0.0001 CGT G,A 0.001071 19:33164168 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant 0.130691 0.1421 0.0272 0.053691 0.289486951856972 0.0455939 3.2982521257479e-08 FALSE 0.000816595 ENSE00001235458_006 ENSE00001235458 006 19 33655047 33655216 + 56 69 45 G A 33655120 1990 74 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTAATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164213 33164214 33164214 exon 18 0.260869565217391 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTAATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 697 785 0.81309796590499 0.813325092915506 0.813211529410248 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.176126784138958 -0.0527202467401533 0.99237476980072 0.927635044849804 NA -0.114423515439556 NA FALSE NA 1 1.045 . synonymous_variant LOW WDR88 HGNC 26999 ENST00000355868 9/11 1 NA TGA G,A 8.236e-06 19:33164214 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 synonymous_variant 0.883785 0.96555 0.71385 0.554377 0.62605263074355 0 3.2982521257479e-08 FALSE 4.06114e-06 ENSE00001235458_007 ENSE00001235458 007 19 33655047 33655216 + 56 69 45 T A 33655126 1991 80 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGAAGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164219 33164220 33164220 exon 24 0.347826086956522 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGAAGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 1173 1167 0.928014741275156 0.99777359224011 0.962894166757633 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.0612100087687926 0.131728252584451 0.99237476980072 0.927635044849804 NA 0.0352591219078291 NA FALSE NA 1 2.346 rs142169288 missense_variant MODERATE WDR88 HGNC 26999 ENST00000355868 9/11 rs142169288 1 deleterious(0.04) probably_damaging(0.958) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 ATG T,A 0.0001235 19:33164220 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 missense_variant 5.61655 0.97342 0.84169 0.554377 0.995576683818929 0 3.2982521257479e-08 FALSE 8.12183e-05 ENSE00001235458_008 ENSE00001235458 008 19 33655047 33655216 + 56 69 45 G A 33655127 1992 81 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATATTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164220 33164221 33164221 exon 25 0.36231884057971 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATATTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 210 2576 0.993140594071449 0.992470874690863 0.992805734381156 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.003915844027501 0.126425535035203 0.99237476980072 0.927635044849804 NA 0.0651706895313521 NA FALSE NA 1 4.214 . missense_variant MODERATE WDR88 HGNC 26999 ENST00000355868 9/11 1 deleterious(0.03) probably_damaging(0.998) NA TGT G,A 8.236e-06 19:33164221 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 missense_variant 4.391562 0.98265 0.90649 0.554377 0.998273735749251 0 3.2982521257479e-08 FALSE 8.12222e-06 ENSE00001235458_009 ENSE00001235458 009 19 33655047 33655216 + 56 69 45 C T 33655144 1993 98 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAATAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164237 33164238 33164238 exon -28 0.608695652173913 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAATAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 1002 12 0.964009953194349 0.817276158107962 0.890643055651155 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.0252147968495993 -0.0487691815476979 0.99237476980072 0.927635044849804 NA -0.0369919891986486 NA FALSE NA 1 2.958 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:33164238 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 synonymous_variant 0.922098 0.98191 0.85086 0.554377 0.516853121713986 0 3.2982521257479e-08 FALSE 0.142758 ENSE00001235458_010 ENSE00001235458 010 19 33655047 33655216 + 56 69 45 C G 33655144 1994 98 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAAGAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164237 33164238 33164238 exon -28 0.608695652173913 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAAGAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 247 300 1 1 1 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.0107752499560518 0.13395466034434 0.99237476980072 0.927635044849804 NA 0.0723649551501961 NA FALSE NA 1 2.958 NA NA NA WDR88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR88 NA NA NA ENSG00000166359 ENSE00001235458 missense_variant 5.670674 0.9833 0.90773 0.554377 0.997765950091372 0 3.2982521257479e-08 FALSE 7.31154e-05 ENSE00001235458_011 ENSE00001235458 011 19 33655047 33655216 + 56 69 45 A T 33655146 1995 100 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACATGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164239 33164240 33164240 exon -26 0.63768115942029 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACATGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 125 1444 0.998771802660836 0.974330484383575 0.986551143522205 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.00954705261688793 0.108285144727915 0.99237476980072 0.927635044849804 NA 0.0589160986724015 NA FALSE NA 1 3.02 rs149540278 missense_variant MODERATE WDR88 HGNC 26999 ENST00000355868 9/11 rs149540278 1 deleterious(0) probably_damaging(0.997) NA T:0 T:0.0001 AAG A,T 2.471e-05 19:33164240 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 missense_variant 5.611767 0.97026 0.83495 0.554377 0.995718615733325 0 3.2982521257479e-08 FALSE 2.03042e-05 ENSE00001235458_012 ENSE00001235458 012 19 33655047 33655216 + 56 69 45 A G 33655148 1996 102 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGGAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164241 33164242 33164242 exon -24 0.666666666666667 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGGAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 469 325 1 1 1 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.0107752499560518 0.13395466034434 0.99237476980072 0.927635044849804 NA 0.0723649551501961 NA FALSE NA 1 4.943 . missense_variant MODERATE WDR88 HGNC 26999 ENST00000355868 9/11 1 deleterious(0.03) probably_damaging(0.978) NA GAA A,G 8.236e-06 19:33164242 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 missense_variant 5.696173 0.98723 0.93897 0.554377 0.999092355354587 0 3.2982521257479e-08 FALSE 8.1217e-06 ENSE00001235458_013 ENSE00001235458 013 19 33655047 33655216 + 56 69 45 A G 33655154 1997 108 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGGTCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164247 33164248 33164248 exon -18 0.753623188405797 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGGTCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 44 37 0.805891699534541 0.8 0.80294584976727 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.183333050509407 -0.0660453396556596 0.99237476980072 0.927635044849804 NA -0.124689195082533 NA FALSE NA 0.999 0.559 rs144099790 missense_variant MODERATE WDR88 HGNC 26999 ENST00000355868 9/11 rs144099790 1 tolerated(0.46) benign(0.136) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 G:0 G:0.0002 GAT A,G 0.0001977 19:33164248 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 missense_variant 0.149171 0.94917 0.43048 0.554377 0.514119940830851 0 3.2982521257479e-08 FALSE 0.000227406 ENSE00001235458_014 ENSE00001235458 014 19 33655047 33655216 + 56 69 45 T A 33655160 1998 114 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGACTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164253 33164254 33164254 exon -12 0.840579710144927 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGACTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 658 755 1 0.997331337052849 0.998665668526425 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.0107752499560518 0.131285997397189 0.99237476980072 0.927635044849804 NA 0.0710306236766206 NA FALSE NA 1 5.714 . missense_variant MODERATE WDR88 HGNC 26999 ENST00000355868 9/11 1 deleterious(0) probably_damaging(0.999) NA GTC T,A 8.236e-06 19:33164254 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 missense_variant 6.006568 0.98694 0.9449 0.554377 0.994963585870758 0 3.2982521257479e-08 FALSE 4.06081e-06 ENSE00001235458_015 ENSE00001235458 015 19 33655047 33655216 + 56 69 45 C G 33655168 1999 122 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCGAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164261 33164262 33164262 exon -4 0.956521739130435 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCGAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 2295 24 0.999766654038511 1 0.999883327019255 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.0105419039945627 0.13395466034434 0.99237476980072 0.927635044849804 NA 0.0722482821694515 NA FALSE NA 0.747 -0.319 . synonymous_variant LOW WDR88 HGNC 26999 ENST00000355868 9/11 rs562947644 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CCA C,G 8.236e-06 19:33164262 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 synonymous_variant 0.994737 0.95803 0.29149 0.554377 0.618673945057482 0 3.2982521257479e-08 FALSE 4.06098e-06 ENSE00001235458_016 ENSE00001235458 016 19 33655047 33655216 + 56 69 45 A G 33655170 2000 124 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAGGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164263 33164264 33164264 exon -2 0.985507246376812 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAGGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 49 1012 0 0.00031609524562461 0.000158047622812305 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.989224750043948 -0.865729244410035 0.99237476980072 0.927635044849804 NA -0.927476997226992 NA TRUE NA 1 6.613 . missense_variant&splice_region_variant MODERATE WDR88 HGNC 26999 ENST00000355868 9/11 1 deleterious(0.01) probably_damaging(0.974) NA AAG A,G 1.647e-05 19:33164264 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 missense_variant 3.823229 0.97896 0.94897 0.554377 0.996845271320565 0 3.2982521257479e-08 FALSE 8.12229e-06 ENSE00001235458_017 ENSE00001235458 017 19 33655047 33655216 + 56 69 45 G T 33655172 2001 126 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGTTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164265 33164266 33164266 downstr_intron 1 1.02272727272727 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGTTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 950 505 0.291598377950975 0.217497667322085 0.25454802263653 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.697626372092973 -0.648547672333575 0.99237476980072 0.927635044849804 NA -0.673087022213274 NA TRUE NA 1 6.978 rs139920510 splice_donor_variant HIGH WDR88 HGNC 26999 ENST00000355868 9/10 rs139920510 1 NA T:0.0002 T:0 HC GGT G,T 8.236e-06 19:33164266 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 splice_donor_variant 4.540127 0.98992 0.96699 0.078448 0.995068014611585 0.972438 3.2982521257479e-08 FALSE 4.06114e-06 ENSE00001235458_018 ENSE00001235458 018 19 33655047 33655216 + 56 69 45 A T 33655177 2002 131 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAATGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164270 33164271 33164271 downstr_intron 6 1.13636363636364 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAATGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 1216 206 0.998501307127497 0.990673608610192 0.994587457868845 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.00927655708354913 0.124628268954532 0.99237476980072 0.927635044849804 NA 0.0669524130190406 NA FALSE NA 0.832 0.829 . splice_region_variant&intron_variant LOW WDR88 HGNC 26999 ENST00000355868 9/10 1 NA AAG A,T 8.236e-06 19:33164271 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 splice_region_variant -0.196813 0.17668 0.24919 0.078448 0.649459013642283 0.256786 3.2982521257479e-08 FALSE 8.12249e-06 ENSE00001235458_019 ENSE00001235458 019 19 33655047 33655216 + 56 69 45 T A 33655182 2003 136 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGACAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164275 33164276 33164276 downstr_intron 11 1.25 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGACAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 246 1198 0.981896230567965 0.991486609962617 0.986691420265291 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.00732851947598268 0.125441270306957 0.99237476980072 0.927635044849804 NA 0.0590563754154871 NA FALSE NA 0 -1.92 . intron_variant MODIFIER WDR88 HGNC 26999 ENST00000355868 9/10 1 NA GTC T,A 8.236e-06 19:33164276 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant 0.408071 0.18167 0.01473 0.078448 0.655631186847397 0.0758947 3.2982521257479e-08 FALSE 4.06141e-06 ENSE00001235458_020 ENSE00001235458 020 19 33655047 33655216 + 56 69 45 G T 33655186 2004 140 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAATCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 33164279 33164280 33164280 downstr_intron 15 1.34090909090909 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAATCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 270 452 1 1 1 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.0107752499560518 0.13395466034434 0.99237476980072 0.927635044849804 NA 0.0723649551501961 NA FALSE NA 0.001 -0.326 . intron_variant MODIFIER WDR88 HGNC 26999 ENST00000355868 9/10 rs202209466 1 NA T:0 T:0.0001 AGC G,T 3.295e-05 19:33164280 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant -0.092227 0.26265 0.06858 0.078448 0.580996747499239 0.0536794 3.2982521257479e-08 FALSE 1.62468e-05 ENSE00001235458_021 ENSE00001235458 021 19 33655047 33655216 + 56 69 45 A G 33655193 2005 147 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAGTATCGATCACGTTCGCCAGGATT 33164140 33164310 33164286 33164287 33164287 downstr_intron 22 1.5 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAGTATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 465 338 0.998395984913951 0.925463216722043 0.961929600817997 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.00917123487000249 0.0594178770663831 0.99237476980072 0.927635044849804 NA 0.0342945559681928 NA FALSE NA 0.004 -0.415 . intron_variant MODIFIER WDR88 HGNC 26999 ENST00000355868 9/10 1 NA AAT A,G 1.647e-05 19:33164287 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant 0.08338 0.16666 0.06256 0.078448 0.52380327031118 0.046323 3.2982521257479e-08 FALSE 2.03102e-05 ENSE00001235458_023 ENSE00001235458 023 19 33655047 33655216 + 56 69 45 C T 33655197 2007 151 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATTGATCACGTTCGCCAGGATT 33164140 33164310 33164290 33164291 33164291 downstr_intron 26 1.59090909090909 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATTGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 921 625 0.938489884682552 0.996388282531816 0.967439083607184 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.0507348653613965 0.130342942876156 0.99237476980072 0.927635044849804 NA 0.0398040387573799 NA FALSE NA 0.001 0.325 . intron_variant MODIFIER WDR88 HGNC 26999 ENST00000355868 9/10 rs377335930 1 NA T:0.0002 T:0 TCG C,T 0.0002224 19:33164291 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant 0.226771 0.19721 0.06109 0.078448 0.660981855509939 0.0455939 3.2982521257479e-08 FALSE 0.000178777 ENSE00001235458_024 ENSE00001235458 024 19 33655047 33655216 + 56 69 45 G A 33655198 2008 152 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCAATCACGTTCGCCAGGATT 33164140 33164310 33164291 33164292 33164292 downstr_intron 27 1.61363636363636 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCAATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 432 1398 0.909709927597375 0.958577328004366 0.93414362780087 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.0795148224465733 0.0925319883487062 0.99237476980072 0.927635044849804 NA 0.00650858295106649 NA FALSE NA 0 -1.192 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:33164292 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant -0.009909 0.18108 0.01614 0.078448 0.754453231686788 0.0780758 3.2982521257479e-08 FALSE 4.06312e-06 ENSE00001235458_025 ENSE00001235458 025 19 33655047 33655216 + 56 69 45 G T 33655198 2009 152 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCTATCACGTTCGCCAGGATT 33164140 33164310 33164291 33164292 33164292 downstr_intron 27 1.61363636363636 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCTATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 414 1394 0.993817821962258 1 0.996908910981129 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.00459307191831004 0.13395466034434 0.99237476980072 0.927635044849804 NA 0.0692738661313252 NA FALSE NA 0 -1.192 NA NA NA WDR88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR88 NA NA NA ENSG00000166359 ENSE00001235458 intron_variant -0.280679 0.07142 0.00031 0.078448 0.697365833750966 0.0780758 3.2982521257479e-08 FALSE 4.06312e-06 ENSE00001235458_026 ENSE00001235458 026 19 33655047 33655216 + 56 69 45 C T 33655203 2010 157 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCATGTTCGCCAGGATT 33164140 33164310 33164296 33164297 33164297 downstr_intron 32 1.72727272727273 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCATGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 376 401 0.988960287438601 0.999605401134425 0.994282844286513 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.000264462605347071 0.133560061478765 0.99237476980072 0.927635044849804 NA 0.0666477994367091 NA FALSE NA 0 -0.325 . intron_variant MODIFIER WDR88 HGNC 26999 ENST00000355868 9/10 1 NA ACG C,T 3.295e-05 19:33164297 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant 0.013893 0.16192 0.02083 0.078448 0.693587059782433 0.0455939 3.2982521257479e-08 FALSE 2.03143e-05 ENSE00001235458_027 ENSE00001235458 027 19 33655047 33655216 + 56 69 45 G C 33655204 2011 158 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACCTTCGCCAGGATT 33164140 33164310 33164297 33164298 33164298 downstr_intron 33 1.75 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACCTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 239 654 1 1 1 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.0107752499560518 0.13395466034434 0.99237476980072 0.927635044849804 NA 0.0723649551501961 NA FALSE NA 0 -1.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:33164298 WDR88 HGNC Symbol protein_coding 43705 ENSG00000166359 ENSE00001235458 intron_variant -0.49907 0.15422 0.01759 0.078448 0.473543932573282 0.0455939 3.2982521257479e-08 FALSE 8.12599e-06 ENSE00001235458_028 ENSE00001235458 028 19 33655047 33655216 + 56 69 45 G A 33655204 2012 158 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACATTCGCCAGGATT 33164140 33164310 33164297 33164298 33164298 downstr_intron 33 1.75 TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACATTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT mutant NA NA NA NA NA 101 901 1 0.998765600794689 0.999382800397345 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA 0.0107752499560518 0.13272026113903 0.99237476980072 0.927635044849804 NA 0.0717477555475408 NA FALSE NA 0 -1.084 NA NA NA WDR88 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR88 NA NA NA ENSG00000166359 ENSE00001235458 intron_variant -0.0547 0.0575 0.00015 0.078448 0.653695837186824 0.0455939 3.2982521257479e-08 FALSE 1.2189e-05 ENSE00001235458_BRK ENSE00001235458 BRK 19 33655047 33655216 + 56 69 45 A,G; T,T NA NA NA TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCTTGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGCCAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT 33164140 33164310 NA NA NA NA NA NA TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCTTGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGCCAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT TTGTTCTTTCAAAATTATTTTCTCCACGTTTTCATTAAAATTTGATATTTCTTCAGGGCCATAATGACTGGGTGATGGATGTTGCCATTAGCAACAACAAGAAATGGATCCTGTCTGCTTCCAAGGTAAAAGTGGTCAAGCTTACAATATCGATCACGTTCGCCAGGATT control NA NA NA NA NA 735 1973 0.00737623088094246 0.00244169703828221 0.00490896395961233 1 0.984749539601439 0.989224750043948 0.86604533965566 NA NA -0.981848519163006 -0.863603642617377 0.99237476980072 0.927635044849804 NA -0.922726080890192 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR88 NA NA NA ENSG00000166359 ENSE00001235458 NA NA NA NA NA NA NA 3.2982521257479e-08 FALSE NA ENSE00001235944_000 ENSE00001235944 000 11 69962495 69962664 + 69 42 59 NA NA NA NA NA GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACGTTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 NA NA NA NA NA NA ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC natural NA NA NA NA NA 305 271 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANO1 NA NA NA ENSG00000131620 ENSE00001235944 NA NA NA NA NA NA NA 0.993084640132559 TRUE NA ENSE00001235944_001 ENSE00001235944 001 11 69962495 69962664 + 69 42 59 C T 69962515 1908 21 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACGTTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGCTTTAGAGGCGCTCACATCCATTAT 70116388 70116558 70116408 70116409 70116409 upstr_intron -49 -0.695652173913043 ATAATGGATGTGAGCGCCTCTAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 81 542 0.96823853076284 0.800932380803251 0.884585455783045 NA NA 1 1 NA NA -0.0317614692371598 -0.199067619196749 NA 1 NA -0.115414544216955 NA FALSE NA 0 -1.624 NA NA NA ANO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:70116409 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 intron_variant -0.165394 0.10653 0.00794 0.053691 0.807025320989276 0.0448725 0.993084640132559 TRUE NA ENSE00001235944_004 ENSE00001235944 004 11 69962495 69962664 + 69 42 59 G A 69962519 1911 25 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACGTTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGTTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116412 70116413 70116413 upstr_intron -45 -0.63768115942029 ATAATGGATGTGAGCGCCTCCAAAACTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 33 18 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.001 0.922 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000530480 6/9 1 NA AGC G,A 8.326e-06 11:70116413 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 intron_variant 0.203711 0.18164 0.02321 0.053691 0.8017039045412 0.0448725 0.993084640132559 TRUE NA ENSE00001235944_005 ENSE00001235944 005 11 69962495 69962664 + 69 42 59 T G 69962521 1912 27 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACGTTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGCGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116414 70116415 70116415 upstr_intron -43 -0.608695652173913 ATAATGGATGTGAGCGCCTCCAAAGCGCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 65 37 1 0.977725128569005 0.988862564284502 NA NA 1 1 NA NA 0 -0.0222748714309955 NA 1 NA -0.0111374357154977 NA FALSE NA 0 -0.649 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000530480 6/9 1 NA CTC T,G 1.664e-05 11:70116415 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 intron_variant 0.140651 0.15533 0.01668 0.053691 0.62848213622467 0.0448725 0.993084640132559 TRUE 1.61247e-05 ENSE00001235944_006 ENSE00001235944 006 11 69962495 69962664 + 69 42 59 C T 69962522 1913 28 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACGTTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGAAGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116415 70116416 70116416 upstr_intron -42 -0.594202898550725 ATAATGGATGTGAGCGCCTCCAAAGCTTCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 943 71 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0 -2.263 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000530480 6/9 rs375300283 1 NA T:0.0003 T:0 TCC C,T 8.321e-06 11:70116416 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 intron_variant 0.17692 0.11962 0.00752 0.053691 0.824419147309462 0.0448725 0.993084640132559 TRUE NA ENSE00001235944_010 ENSE00001235944 010 11 69962495 69962664 + 69 42 59 A G 69962571 1917 77 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACGTTTTCACCGTTGCAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116464 70116465 70116465 exon 8 0.19047619047619 ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTGCAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 85 257 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.976 2.365 . missense_variant MODERATE ANO1 HGNC 21625 ENST00000530480 7/10 1 deleterious(0.01) benign(0.018) NA TAC A,G 4.142e-05 11:70116465 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 missense_variant 1.597019 0.94529 0.82985 0.615465 0.9668784459194 0 0.993084640132559 TRUE 9.9058e-05 ENSE00001235944_012 ENSE00001235944 012 11 69962495 69962664 + 69 42 59 G A 69962576 1919 82 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACGTTTTCACTGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116469 70116470 70116470 exon 13 0.30952380952381 ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACAGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 510 325 0.88904669215102 0.990705345664532 0.939876018907776 NA NA 1 1 NA NA -0.11095330784898 -0.0092946543354685 NA 1 NA -0.0601239810922245 NA FALSE NA 1 7.394 . missense_variant MODERATE ANO1 HGNC 21625 ENST00000530480 7/10 1 tolerated(0.92) benign(0.044) NA CGG G,A 8.283e-06 11:70116470 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 missense_variant 1.344741 0.98346 0.98499 0.615465 0.260246912100968 0 0.993084640132559 TRUE NA ENSE00001235944_013 ENSE00001235944 013 11 69962495 69962664 + 69 42 59 C T 69962584 1920 90 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACATTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116477 70116478 70116478 exon 21 0.5 ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAATGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 22 16 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0 -0.187 . synonymous_variant LOW ANO1 HGNC 21625 ENST00000530480 7/10 rs375801362 1 NA T:0 T:0.0001 ACG C,T 8.283e-06 11:70116478 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 synonymous_variant 0.93573 0.15539 0.03262 0.615465 0.561416736742914 0 0.993084640132559 TRUE 3.16116e-05 ENSE00001235944_014 ENSE00001235944 014 11 69962495 69962664 + 69 42 59 G A 69962585 1921 91 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGATGTTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116478 70116479 70116479 exon -21 0.523809523809524 ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACATCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 21 543 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.169 1.385 NA NA NA ANO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:70116479 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 missense_variant 0.840159 0.27094 0.18791 0.615465 0.945331785709496 0 0.993084640132559 TRUE 3.62076e-05 ENSE00001235944_017 ENSE00001235944 017 11 69962495 69962664 + 69 42 59 A G 69962595 1924 101 GCCCCAGAACGCCTCCAGGCTCTGACAGAGCCACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGCTGAACTCGACGTTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116488 70116489 70116489 exon -11 0.761904761904762 ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAGCGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 704 224 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 6.993 . missense_variant MODERATE ANO1 HGNC 21625 ENST00000530480 7/10 1 deleterious(0.01) possibly_damaging(0.596) NA AAC A,G 8.287e-06 11:70116489 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 missense_variant 2.948334 0.98481 0.98707 0.615465 0.977704632249673 0 0.993084640132559 TRUE NA ENSE00001235944_021 ENSE00001235944 021 11 69962495 69962664 + 69 42 59 G T 69962634 1928 140 GCCCCAGAACGCCTCCAGGCTCTGACAGAGACACCTCCTGCTCCGCTCCATCAACTTACTTTTCTGTCGTTGAACTCGACGTTTTCACCGTTGTAGTCTCCCTGTTAAAAAAAGAGGAAAGGGACGTTCTTATCATCCAATGGAGCTTTGGAGGCGCTCACATCCATTAT 70116388 70116558 70116527 70116528 70116528 downstr_intron 29 1.5 ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGTCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC ATAATGGATGTGAGCGCCTCCAAAGCTCCATTGGATGATAAGAACGTCCCTTTCCTCTTTTTTTAACAGGGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAAGTAAGTTGATGGAGCGGAGCAGGAGGTGGCTCTGTCAGAGCCTGGAGGCGTTCTGGGGC mutant NA NA NA NA NA 846 50 0.996744526028727 1 0.998372263014363 NA NA 1 1 NA NA -0.00325547397127302 0 NA 1 NA -0.00162773698563651 NA FALSE NA 0 -0.076 . intron_variant MODIFIER ANO1 HGNC 21625 ENST00000530480 7/9 1 NA GGC G,T 2.53e-05 11:70116528 ANO1 HGNC Symbol protein_coding 111226 ENSG00000131620 ENSE00001235944 non_coding_transcript_exon_variant 0.012369 0.19188 0.01747 0.06567 0.882416550685899 0.0448725 0.993084640132559 TRUE NA ENSE00001237211_000 ENSE00001237211 000 12 2019022 2019191 - 50 60 60 NA NA NA NA NA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 NA NA NA NA NA NA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA natural NA NA NA NA NA 841 609 0.95750165056057 0.803084478726935 0.880293064643753 NA NA 0.95750165056057 0.803084478726935 NA NA 0 0 NA 0.880293064643753 NA 0 NA FALSE NA NA NA NA NA NA CACNA2D4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D4 NA NA NA ENSG00000151062 ENSE00003484591 NA NA NA NA NA NA NA 4.57168482146793e-22 FALSE NA ENSE00001237211_002 ENSE00001237211 002 12 2019022 2019191 - 50 60 60 C A 2019039 130 153 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGTCCAGGATCGCCTGAGTA 1909855 1910025 1909872 1909873 1909873 downstr_intron 33 1.6734693877551 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGTCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA mutant 29 50 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.95750165056057 0.803084478726935 NA NA NA NA NA 0.880293064643753 NA NA NA NA NA 0.014 -0.068 . intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000280663 4/35 1 NA GCC C,A 8.272e-06 12:1909873 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003484591 intron_variant 0.55907 0.1722 0.03343 0.056701 0.835363203281914 0.0464556 4.57168482146793e-22 FALSE 4.10981e-06 ENSE00001237211_011 ENSE00001237211 011 12 2019022 2019191 - 50 60 60 G A 2019093 139 99 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCATGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 1909926 1909927 1909927 exon -22 0.65 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCATGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA mutant 17 23 0 0.0285613980511798 0.0142806990255899 NA NA NA NA NA NA NA 0.95750165056057 0.803084478726935 NA NA NA NA NA 0.880293064643753 NA NA NA NA NA 0.004 -0.996 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000280663 4/36 COSM4040705&COSM4040704 1 NA CGT G,A 4.136e-05 12:1909927 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003484591 synonymous_variant 0.199451 0.83781 0.01971 0.487112 0.479050109847913 0 4.57168482146793e-22 FALSE 2.84699e-05 ENSE00001237211_012 ENSE00001237211 012 12 2019022 2019191 - 50 60 60 C T 2019104 140 88 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCAACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 1909937 1909938 1909938 exon 28 0.466666666666667 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCAACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA mutant 142 23 0.00924673916670445 0 0.00462336958335222 NA NA NA NA NA NA NA 0.95750165056057 0.803084478726935 NA NA NA NA NA 0.880293064643753 NA NA NA NA NA 0.998 3.767 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:1909938 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003484591 missense_variant 3.607677 0.98789 0.97756 0.487112 0.998231509399226 0 4.57168482146793e-22 FALSE 1.62706e-05 ENSE00001237211_013 ENSE00001237211 013 12 2019022 2019191 - 50 60 60 C G 2019104 141 88 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCCACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 1909937 1909938 1909938 exon 28 0.466666666666667 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCCACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA mutant 448 318 0 0 0 NA NA NA NA NA NA NA 0.95750165056057 0.803084478726935 NA NA NA NA NA 0.880293064643753 NA NA NA NA NA 0.998 3.767 NA NA NA CACNA2D4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D4 NA NA NA ENSG00000151062 ENSE00003484591 missense_variant 2.872062 0.98728 0.95388 0.487112 0.990557477448348 0 4.57168482146793e-22 FALSE 4.06765e-06 ENSE00001237211_015 ENSE00001237211 015 12 2019022 2019191 - 50 60 60 C T 2019113 143 79 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCAAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 1909946 1909947 1909947 exon 19 0.316666666666667 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCAAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA mutant 189 327 0 0 0 NA NA NA NA NA NA NA 0.95750165056057 0.803084478726935 NA NA NA NA NA 0.880293064643753 NA NA NA NA NA 1 6.686 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000280663 4/36 1 NA TCG C,T 1.655e-05 12:1909947 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003484591 missense_variant 7.037434 0.99297 0.9927 0.487112 0.99901650752344 0 4.57168482146793e-22 FALSE 1.2203e-05 ENSE00001237211_017 ENSE00001237211 017 12 2019022 2019191 - 50 60 60 C G 2019125 145 67 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGCTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 1909958 1909959 1909959 exon 7 0.116666666666667 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGCTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA mutant 65 79 0.85 0.85 0.85 30 74 1 0.973625823210083 0.986812911605042 NA NA 0.95750165056057 0.803084478726935 NA NA 0.0424983494394301 0.170541344483148 NA 0.880293064643753 NA 0.106519846961289 NA FALSE NA 1 6.686 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000280663 4/36 1 NA ACC C,G 8.275e-06 12:1909959 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003484591 missense_variant 3.96598 0.99336 0.9935 0.487112 0.997251672032223 0 4.57168482146793e-22 FALSE 4.06779e-06 ENSE00001237211_018 ENSE00001237211 018 12 2019022 2019191 - 50 60 60 C T 2019132 146 60 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAAAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 1909965 1909966 1909966 upstr_intron -1 0 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAAAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA mutant 37 14 0 0 0 NA NA NA NA NA NA NA 0.95750165056057 0.803084478726935 NA NA NA NA NA 0.880293064643753 NA NA NA NA NA 1 6.496 . splice_acceptor_variant&non_coding_transcript_variant HIGH CACNA2D4 HGNC 20202 ENST00000280663 3/35 1 NA TCT C,T 8.275e-06 12:1909966 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003484591 splice_acceptor_variant 4.147656 0.99245 0.99196 0.056701 0.992623778347312 0.976879 4.57168482146793e-22 FALSE 8.13776e-06 ENSE00001237211_021 ENSE00001237211 021 12 2019022 2019191 - 50 60 60 G C 2019153 149 39 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTAGCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 1909986 1909987 1909987 upstr_intron -22 -0.35 CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTAGCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA mutant 34 43 0 0 0 NA NA NA NA NA NA NA 0.95750165056057 0.803084478726935 NA NA NA NA NA 0.880293064643753 NA NA NA NA NA 0.42 1.623 . intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000280663 3/35 1 NA GGT G,C 8.274e-06 12:1909987 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003484591 intron_variant -0.039442 0.35144 0.67446 0.056701 0.574528670517036 0.185461 4.57168482146793e-22 FALSE 8.1692e-06 ENSE00001237211_BRK ENSE00001237211 BRK 12 2019022 2019191 - 50 60 60 A,G; T,T NA NA NA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCTTAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGCCGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA 1909855 1910025 NA NA NA NA NA NA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCTTAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGCCGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA CTGAAAACCCACTGGGCTCCTTTTACCCATTCTCCCTACCTCTGTGTTCCCATCCCTCAGAATCTGGTGGAAGCTGCCGAGGAGGCCGACCTGAACCACGAATTCAATGAATCCCTGGTGGTGAGTCCCACTCCTGGCACTGGTGCCAGAGGGCCAGGATCGCCTGAGTA control 117 26 0 0 0 365 508 0.017009753740807 0.0128912689083639 0.0149505113245855 NA NA 0.95750165056057 0.803084478726935 NA NA -0.940491896819763 -0.790193209818571 NA 0.880293064643753 NA -0.865342553319167 NA TRUE NA NA NA NA NA NA CACNA2D4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D4 NA NA NA ENSG00000151062 ENSE00003484591 NA NA NA NA NA NA NA 4.57168482146793e-22 FALSE NA ENSE00001238421_000 ENSE00001238421 000 16 88098816 88098985 + 57 66 47 NA NA NA NA NA GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 NA NA NA NA NA NA GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG natural 91 106 0.977105692678165 0.960031223577831 0.968568458127998 1270 1164 0.862410224511999 0.985937643344354 0.924173933928177 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 0 0 0 0 0.968568458127998 0.924173933928177 0 0 0 FALSE FALSE NA NA NA NA NA BANP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BANP NA NA NA ENSG00000172530 ENSE00001238421 NA NA NA NA NA NA NA 0.958647667807905 TRUE NA ENSE00001238421_001 ENSE00001238421 001 16 88098816 88098985 + 57 66 47 G C 88098837 3296 22 GCAGGGTTGGTCCTTCTGGAGCCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065230 88065231 88065231 upstr_intron -36 -0.614035087719298 GCAGGGTTGGTCCTTCTGGAGCCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 12 37 0.996053910288464 0.958540423604018 0.977297166946241 639 299 0.924516056172134 0.969160912100127 0.94683848413613 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 0.0189482176102984 -0.00149079997381329 0.0621058316601343 -0.0167767312442269 0.968568458127998 0.924173933928177 0.00872870881824256 0.0226645502079537 0.0139358413897112 FALSE FALSE 0.002 -0.451 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 rs374607381 1 C:0.0006 C:0 C:0 NA C:0 C:0.002 C:0.001 C:0 C:0.0006 GGC G,C 0.0006805 16:88065231 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 intron_variant -0.60747 0.06177 0.00237 0.099367 0.622751800638984 0.046875 0.958647667807905 TRUE 0.000832381 ENSE00001238421_002 ENSE00001238421 002 16 88098816 88098985 + 57 66 47 A G 88098847 3297 32 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGGAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065240 88065241 88065241 upstr_intron -26 -0.43859649122807 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGGAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 227 380 0.847581567864096 0.860890362195628 0.854235965029862 NA NA NA NA NA 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 -0.129524124814069 -0.0991408613822035 NA NA 0.968568458127998 0.924173933928177 -0.114332493098136 NA NA NA FALSE 0.008 0.821 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA GAA A,G 8.376e-06 16:88065241 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 intron_variant 0.049721 0.09552 0.00921 0.099367 0.730347922765359 0.046875 0.958647667807905 TRUE NA ENSE00001238421_005 ENSE00001238421 005 16 88098816 88098985 + 57 66 47 C T 88098873 3300 58 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGTTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065266 88065267 88065267 exon 1 0.0151515151515152 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGTTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 180 101 0.8469488399658 0.85 0.8484744199829 NA NA NA NA NA 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 -0.130156852712366 -0.110031223577831 NA NA 0.968568458127998 0.924173933928177 -0.120094038145099 NA NA NA FALSE 0.285 0.755 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA GCT C,T 8.284e-06 16:88065267 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 missense_variant 0.51789 0.53626 0.02535 0.718356 0.230478025209836 0 0.958647667807905 TRUE 4.5488e-06 ENSE00001238421_006 ENSE00001238421 006 16 88098816 88098985 + 57 66 47 G A 88098881 3301 66 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAAGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065274 88065275 88065275 exon 9 0.136363636363636 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAAGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant NA NA NA NA NA 675 146 0.998897377533701 0.998685940598015 0.998791659065858 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 NA NA 0.136487153021701 0.0127482972536612 0.968568458127998 0.924173933928177 NA 0.0746177251376812 NA FALSE NA 0.075 0.052 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 rs543410643 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 AGG G,A 8.278e-06 16:88065275 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 synonymous_variant 0.259772 0.1735 0.00783 0.718356 0.517109418820161 0 0.958647667807905 TRUE 2.64613e-05 ENSE00001238421_007 ENSE00001238421 007 16 88098816 88098985 + 57 66 47 A G 88098885 3302 70 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCGCCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065278 88065279 88065279 exon 13 0.196969696969697 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCGCCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 10 24 0.994784284124077 0.998681292677701 0.996732788400889 NA NA NA NA NA 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 0.0176785914459114 0.0386500690998695 NA NA 0.968568458127998 0.924173933928177 0.0281643302728904 NA NA NA FALSE 0.025 -0.011 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 rs561626806 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAC A,G 9.105e-05 16:88065279 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 missense_variant 0.306015 0.18016 0.00488 0.718356 0.207066852505057 0 0.958647667807905 TRUE 9.60279e-05 ENSE00001238421_008 ENSE00001238421 008 16 88098816 88098985 + 57 66 47 C A 88098886 3303 71 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCAACCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065279 88065280 88065280 exon 14 0.212121212121212 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCAACCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 22 10 0.999615018679624 0.992781627766246 0.996198323222935 NA NA NA NA NA 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 0.0225093260014591 0.0327504041884144 NA NA 0.968568458127998 0.924173933928177 0.0276298650949367 NA NA NA FALSE 0.025 -0.048 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA ACC C,A 1.655e-05 16:88065280 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 missense_variant 0.742711 0.1608 0.00531 0.718356 0.666094706177782 0 0.958647667807905 TRUE 2.61579e-05 ENSE00001238421_010 ENSE00001238421 010 16 88098816 88098985 + 57 66 47 C T 88098899 3305 84 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGTCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065292 88065293 88065293 exon 27 0.409090909090909 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGTCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant NA NA NA NA NA 28 1944 1 0.998952982891667 0.999476491445834 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 NA NA 0.137589775488001 0.0130153395473135 0.968568458127998 0.924173933928177 NA 0.0753025575176571 NA FALSE NA 0.044 -0.006 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA GCC C,T 1.655e-05 16:88065293 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 synonymous_variant 1.468727 0.19286 0.00275 0.718356 0.600637651584455 0 0.958647667807905 TRUE NA ENSE00001238421_012 ENSE00001238421 012 16 88098816 88098985 + 57 66 47 G A 88098905 3307 90 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTAGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065298 88065299 88065299 exon 33 0.5 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTAGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 238 308 0.826620659881152 0.85 0.838310329940576 NA NA NA NA NA 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 -0.150485032797014 -0.110031223577831 NA NA 0.968568458127998 0.924173933928177 -0.130258128187422 NA NA NA FALSE 0.02 0.92 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA TGG G,A 8.277e-06 16:88065299 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 synonymous_variant 0.978053 0.16886 0.01205 0.718356 0.799001540314048 0 0.958647667807905 TRUE 4.27383e-06 ENSE00001238421_013 ENSE00001238421 013 16 88098816 88098985 + 57 66 47 A G 88098911 3308 96 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCGTCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065304 88065305 88065305 exon -28 0.590909090909091 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCGTCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant NA NA NA NA NA 65 174 0.991467407139823 1 0.995733703569911 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 NA NA 0.129057182627823 0.0140623566556461 0.968568458127998 0.924173933928177 NA 0.0715597696417347 NA FALSE NA 0.003 -0.042 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA CAT A,G 8.276e-06 16:88065305 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 synonymous_variant 0.813218 0.09763 0.00265 0.718356 0.70830231383621 0 0.958647667807905 TRUE NA ENSE00001238421_014 ENSE00001238421 014 16 88098816 88098985 + 57 66 47 C T 88098914 3309 99 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCTGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065307 88065308 88065308 exon -25 0.636363636363636 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCTGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 12 45 0.85 0.85 0.85 NA NA NA NA NA 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 -0.127105692678165 -0.110031223577831 NA NA 0.968568458127998 0.924173933928177 -0.118568458127998 NA NA NA FALSE 0 -0.512 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA CCG C,T 1.655e-05 16:88065308 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 synonymous_variant 1.897522 0.05616 0.00061 0.718356 0.552729169928059 0 0.958647667807905 TRUE 1.70062e-05 ENSE00001238421_015 ENSE00001238421 015 16 88098816 88098985 + 57 66 47 G A 88098915 3310 100 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCATCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065308 88065309 88065309 exon -24 0.651515151515151 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCATCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 39 57 0.85 0.85 0.85 581 66 0.968794778237744 0.951971899997874 0.960383339117809 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 -0.127105692678165 -0.110031223577831 0.106384553725745 -0.0339657433464799 0.968568458127998 0.924173933928177 -0.118568458127998 0.0362094051896323 0.154777863317631 FALSE FALSE 0.001 -0.263 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 rs375667457 1 NA A:0 A:0.0001 CGT G,A 9.103e-05 16:88065309 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 missense_variant 0.527669 0.0639 0.00159 0.718356 0.913967297196831 0 0.958647667807905 TRUE 9.77625e-05 ENSE00001238421_018 ENSE00001238421 018 16 88098816 88098985 + 57 66 47 C T 88098946 3313 131 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCTTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065339 88065340 88065340 downstr_intron 8 1.17391304347826 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCTTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant NA NA NA NA NA 70 476 0.95086517936032 0.962760587351799 0.95681288335606 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 NA NA 0.0884549548483204 -0.0231770559925545 0.968568458127998 0.924173933928177 NA 0.032638949427883 NA FALSE NA 0.001 -0.105 NA NA NA BANP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:88065340 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 splice_region_variant 0.499854 0.07223 0.00178 0.099367 0.635276950310207 0.048908 0.958647667807905 TRUE 8.51636e-06 ENSE00001238421_019 ENSE00001238421 019 16 88098816 88098985 + 57 66 47 T G 88098948 3314 133 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTGTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065341 88065342 88065342 downstr_intron 10 1.21739130434783 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTGTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant NA NA NA NA NA 11 44 0.95 0.95 0.95 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 NA NA 0.0875897754880006 -0.035937643344354 0.968568458127998 0.924173933928177 NA 0.0258260660718233 NA FALSE NA 0 -0.063 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA TTT T,G 8.275e-06 16:88065342 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 intron_variant 0.29687 0.07485 0.0043 0.099367 0.826709868548976 0.048908 0.958647667807905 TRUE 4.2605e-06 ENSE00001238421_021 ENSE00001238421 021 16 88098816 88098985 + 57 66 47 T A 88098955 3316 140 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACAACCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 88065348 88065349 88065349 downstr_intron 17 1.3695652173913 GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACAACCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG mutant 10 18 0.973340628344062 0.85 0.911670314172031 NA NA NA NA NA 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 -0.00376506433410295 -0.110031223577831 NA NA 0.968568458127998 0.924173933928177 -0.0568981439559671 NA NA NA FALSE 0.001 0.734 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA ATC T,A 2.483e-05 16:88065349 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00001238421 intron_variant 0.230115 0.09365 0.00759 0.099367 0.844657963450454 0.0481516 0.958647667807905 TRUE 1.29304e-05 ENSE00001238421_BRK ENSE00001238421 BRK 16 88098816 88098985 + 57 66 47 A,G; T,T NA NA NA GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCTTCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGCCGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG 88065209 88065379 NA NA NA NA NA NA GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCTTCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGCCGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG GCAGGGTTGGTCCTTCTGGAGGCTCCAGGGGAAAATTCGTTTTCTTGCCTTTTCCAGCTTCTAGAGGCCACCCGCATCCCCTGCCTCCTGGCCCCATCCGTCTTCAAAGCCAGCAGTGGCCAGGTGAGTCCTTTGTACATCCCATCTCTCCCACCCTCTGTGGCTGGGAG control 339 106 0 0.0123225479517812 0.0061612739758906 90 552 0 0.0154660558499132 0.0077330279249566 0.977105692678165 0.960031223577831 0.862410224511999 0.985937643344354 -0.977105692678165 -0.94770867562605 -0.862410224511999 -0.970471587494441 0.968568458127998 0.924173933928177 -0.962407184152108 -0.91644090600322 0.0459662781488878 TRUE TRUE NA NA NA NA NA BANP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BANP NA NA NA ENSG00000172530 ENSE00001238421 NA NA NA NA NA NA NA 0.958647667807905 TRUE NA ENSE00001241987_000 ENSE00001241987 000 7 75216032 75216201 - 39 81 50 NA NA NA NA NA GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 NA NA NA NA NA NA GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC natural 215 149 0.99894102790595 0.985662273248586 0.992301650577268 1648 4247 0.928502375696363 0.993781716205154 0.961142045950758 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 0 0 0 0 0.992301650577268 0.961142045950758 0 0 0 FALSE FALSE NA NA NA NA NA HIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HIP1 NA NA NA ENSG00000127946 ENSE00001241987 NA NA NA NA NA NA NA 0.999681016475132 TRUE NA ENSE00001241987_002 ENSE00001241987 002 7 75216032 75216201 - 39 81 50 C T 75216045 1281 157 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCACCACCGCCGCCTC 75586713 75586883 75586726 75586727 75586727 downstr_intron 26 1.68421052631579 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCACCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 239 217 0.999827683100961 0.99982443047532 0.99982605678814 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0713253074045979 0.00604271427016589 0.992301650577268 0.961142045950758 NA 0.0386840108373819 NA FALSE NA 0 -6.27 . intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 5/28 1 NA GCG C,T 8.237e-06 7:75586727 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 intron_variant -0.097059 0.1545 0.00986 0.062308 0.660539461320662 0.046323 0.999681016475132 TRUE NA ENSE00001241987_003 ENSE00001241987 003 7 75216032 75216201 - 39 81 50 G A 75216046 1282 156 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCTGCCACCGCCGCCTC 75586713 75586883 75586727 75586728 75586728 downstr_intron 25 1.65789473684211 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCTGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 368 34 0.991379250419228 1 0.995689625209614 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0628768747228649 0.00621828379484635 0.992301650577268 0.961142045950758 NA 0.0345475792588556 NA FALSE NA 0 -0.606 rs113296081 intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 5/28 1 NA CGG G,A 0.0006178 7:75586728 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 intron_variant -0.293265 0.14801 0.02848 0.099367 0.617051462387871 0.0863343 0.999681016475132 TRUE 0.000593849 ENSE00001241987_004 ENSE00001241987 004 7 75216032 75216201 - 39 81 50 G C 75216050 1283 152 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTGTGCCGCCACCGCCGCCTC 75586713 75586883 75586731 75586732 75586732 downstr_intron 21 1.55263157894737 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTGTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 53 771 0.8 1 0.9 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA -0.128502375696363 0.00621828379484635 0.992301650577268 0.961142045950758 NA -0.0611420459507584 NA FALSE NA 0.005 0.701 . intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 5/28 1 NA AGA G,C 8.237e-06 7:75586732 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 intron_variant -0.132957 0.22972 0.11373 0.099367 0.660019498535502 0.046323 0.999681016475132 TRUE 4.10394e-06 ENSE00001241987_005 ENSE00001241987 005 7 75216032 75216201 - 39 81 50 T C 75216056 1284 146 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGGCAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586737 75586738 75586738 downstr_intron 15 1.39473684210526 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGGCAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 194 280 0.998995859806398 1 0.999497929903199 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0704934841100345 0.00621828379484635 0.992301650577268 0.961142045950758 NA 0.0383558839524404 NA FALSE NA 0 -2.164 . intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 5/28 1 NA GTC T,C 8.237e-06 7:75586738 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 intron_variant -0.109523 0.15652 0.00722 0.164513 0.54794577322534 0.0858525 0.999681016475132 TRUE 1.22712e-05 ENSE00001241987_006 ENSE00001241987 006 7 75216032 75216201 - 39 81 50 C T 75216058 1285 144 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCAGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586739 75586740 75586740 downstr_intron 13 1.34210526315789 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCAGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 239 491 0.993525044981656 0.983200362333353 0.988362703657505 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0650226692852932 -0.0105813538718003 0.992301650577268 0.961142045950758 NA 0.0272206577067465 NA FALSE NA 0.018 0.182 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:75586740 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 intron_variant 0.077965 0.20379 0.00304 0.164513 0.547999961981942 0.046323 0.999681016475132 TRUE 6.13311e-05 ENSE00001241987_007 ENSE00001241987 007 7 75216032 75216201 - 39 81 50 C A 75216058 1286 144 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCTGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586739 75586740 75586740 downstr_intron 13 1.34210526315789 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCTGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 118 752 1 0.997845755942096 0.998922877971048 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0714976243036368 0.0040640397369428 0.992301650577268 0.961142045950758 NA 0.0377808320202898 NA FALSE NA 0.018 0.182 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HIP1 NA NA NA ENSG00000127946 ENSE00001241987 intron_variant 0.084045 0.22118 0.02908 0.164513 0.563302744548563 0.046323 0.999681016475132 TRUE 8.17748e-06 ENSE00001241987_008 ENSE00001241987 008 7 75216032 75216201 - 39 81 50 G T 75216059 1287 143 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGAGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586740 75586741 75586741 downstr_intron 12 1.31578947368421 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGAGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 166 150 1 1 1 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0714976243036368 0.00621828379484635 0.992301650577268 0.961142045950758 NA 0.0388579540492416 NA FALSE NA 0.019 0.986 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:75586741 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 intron_variant -0.222473 0.20736 0.03883 0.164513 0.640536086194991 0.0536794 0.999681016475132 TRUE 8.17381e-06 ENSE00001241987_009 ENSE00001241987 009 7 75216032 75216201 - 39 81 50 G C 75216059 1288 143 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGGGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586740 75586741 75586741 downstr_intron 12 1.31578947368421 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGGGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 236 618 1 0.996720656211286 0.998360328105643 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0714976243036368 0.00293894000613271 0.992301650577268 0.961142045950758 NA 0.0372182821548848 NA FALSE NA 0.019 0.986 NA NA NA HIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HIP1 NA NA NA ENSG00000127946 ENSE00001241987 intron_variant -0.326469 0.23806 0.01391 0.164513 0.538848817517651 0.0536794 0.999681016475132 TRUE 8.17381e-06 ENSE00001241987_010 ENSE00001241987 010 7 75216032 75216201 - 39 81 50 G A 75216062 1289 140 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTTTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586743 75586744 75586744 downstr_intron 9 1.23684210526316 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTTTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 707 698 1 1 1 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0714976243036368 0.00621828379484635 0.992301650577268 0.961142045950758 NA 0.0388579540492416 NA FALSE NA 0 -0.279 . intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 5/28 1 NA AGA G,A 8.237e-06 7:75586744 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 intron_variant 0.206183 0.18152 0.01399 0.164513 0.606148284088934 0.108369 0.999681016475132 TRUE 8.15794e-06 ENSE00001241987_011 ENSE00001241987 011 7 75216032 75216201 - 39 81 50 A C 75216063 1290 139 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCGCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586744 75586745 75586745 downstr_intron 8 1.21052631578947 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCGCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 556 36 0.999448321983022 1 0.999724160991511 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0709459462866593 0.00621828379484635 0.992301650577268 0.961142045950758 NA 0.0385821150407528 NA FALSE NA 0 0.342 . splice_region_variant&intron_variant LOW HIP1 HGNC 4913 ENST00000434438 5/28 1 NA GAG A,C 8.237e-06 7:75586745 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 splice_region_variant -0.240696 0.22434 0.03703 0.164513 0.609084856488417 0.178351 0.999681016475132 TRUE 8.15335e-06 ENSE00001241987_013 ENSE00001241987 013 7 75216032 75216201 - 39 81 50 T C 75216098 1292 104 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTGAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586779 75586780 75586780 exon -28 0.666666666666667 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTGAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 1222 1779 0.993749923266597 0.940831636052081 0.967290779659339 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0652475475702338 -0.0529500801530728 0.992301650577268 0.961142045950758 NA 0.00614873370858049 NA FALSE NA 1 1.769 . synonymous_variant LOW HIP1 HGNC 4913 ENST00000434438 5/29 1 NA TTA T,C 8.236e-06 7:75586780 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 synonymous_variant 0.602572 0.97249 0.50448 0.706548 0.686519604597713 0 0.999681016475132 TRUE 4.0656e-06 ENSE00001241987_014 ENSE00001241987 014 7 75216032 75216201 - 39 81 50 C T 75216107 1293 95 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTAAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586788 75586789 75586789 exon -37 0.555555555555556 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTAAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 759 149 0.979774072282711 0.998937087352482 0.989355579817597 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0512716965863479 0.00515537114732867 0.992301650577268 0.961142045950758 NA 0.0282135338668383 NA FALSE NA 1 7.597 . synonymous_variant LOW HIP1 HGNC 4913 ENST00000434438 5/29 1 NA TCA C,T 8.236e-06 7:75586789 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 synonymous_variant 1.384838 0.98481 0.9312 0.706548 0.729591064233398 0 0.999681016475132 TRUE 4.0663e-06 ENSE00001241987_016 ENSE00001241987 016 7 75216032 75216201 - 39 81 50 G A 75216113 1295 89 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATTTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586794 75586795 75586795 exon 39 0.481481481481481 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATTTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 179 59 1 0.963468800568328 0.981734400284164 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0714976243036368 -0.0303129156368261 0.992301650577268 0.961142045950758 NA 0.0205923543334053 NA FALSE NA 1 6.432 . synonymous_variant LOW HIP1 HGNC 4913 ENST00000434438 5/29 1 NA AGA G,A 8.236e-06 7:75586795 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 synonymous_variant 1.854509 0.99049 0.96929 0.706548 0.868904973959976 0 0.999681016475132 TRUE 4.06623e-06 ENSE00001241987_017 ENSE00001241987 017 7 75216032 75216201 - 39 81 50 C T 75216129 1296 73 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGACCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586810 75586811 75586811 exon 23 0.283950617283951 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGACCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 886 517 0.993842044543401 0.995452404987555 0.994647224765478 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0653396688470378 0.00167068878240106 0.992301650577268 0.961142045950758 NA 0.0335051788147194 NA FALSE NA 1 7.474 . missense_variant MODERATE HIP1 HGNC 4913 ENST00000434438 5/29 1 deleterious(0) probably_damaging(0.989) NA GCC C,T 8.236e-06 7:75586811 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 missense_variant 6.876012 0.99451 0.98631 0.706548 0.998793422222445 0 0.999681016475132 TRUE 4.07345e-06 ENSE00001241987_018 ENSE00001241987 018 7 75216032 75216201 - 39 81 50 A G 75216131 1297 71 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTACGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586812 75586813 75586813 exon 21 0.259259259259259 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTACGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 42 466 1 0.999754622779323 0.999877311389662 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0714976243036368 0.00597290657416927 0.992301650577268 0.961142045950758 NA 0.038735265438903 NA FALSE NA 0 -2.299 . synonymous_variant LOW HIP1 HGNC 4913 ENST00000434438 5/29 1 NA CAT A,G 8.236e-05 7:75586813 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 synonymous_variant -0.025738 0.87996 0.06611 0.706548 0.394905747775645 0 0.999681016475132 TRUE 0.000134369 ENSE00001241987_020 ENSE00001241987 020 7 75216032 75216201 - 39 81 50 G A 75216140 1299 62 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGTGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586821 75586822 75586822 exon 12 0.148148148148148 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGTGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 427 2733 0.997478243973948 0.997896868594414 0.997687556284181 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0689758682775846 0.00411515238926052 0.992301650577268 0.961142045950758 NA 0.0365455103334226 NA FALSE NA 0.001 -1.009 rs140630088 synonymous_variant LOW HIP1 HGNC 4913 ENST00000434438 5/29 1 NA CGC G,A 1.647e-05 7:75586822 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 synonymous_variant 1.579558 0.95466 0.06349 0.706548 0.643740729026972 0 0.999681016475132 TRUE 8.17194e-06 ENSE00001241987_021 ENSE00001241987 021 7 75216032 75216201 - 39 81 50 G T 75216146 1300 56 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCAACTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586827 75586828 75586828 exon 6 0.0740740740740741 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCAACTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 45 442 0.999081873361849 0.973491230105013 0.986286551733431 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0705794976654857 -0.0202904861001409 0.992301650577268 0.961142045950758 NA 0.0251445057826724 NA FALSE NA 1 4.58 rs142842968 missense_variant MODERATE HIP1 HGNC 4913 ENST00000434438 5/29 1 tolerated(0.05) benign(0.304) NA GGT G,T 2.471e-05 7:75586828 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 missense_variant 4.698498 0.98796 0.97443 0.706548 0.994474810465849 0 0.999681016475132 TRUE 2.86259e-05 ENSE00001241987_022 ENSE00001241987 022 7 75216032 75216201 - 39 81 50 G A 75216164 1301 38 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCTTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 75586845 75586846 75586846 upstr_intron -13 -0.24 GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCTTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC mutant NA NA NA NA NA 185 201 1 1 1 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA 0.0714976243036368 0.00621828379484635 0.992301650577268 0.961142045950758 NA 0.0388579540492416 NA FALSE NA 0 0.289 rs181157791 intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 4/28 1 NA AGG G,A 0.006466 7:75586846 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001241987 intron_variant 0.102887 0.25581 0.04876 0.099367 0.470636769274781 0.176378 0.999681016475132 TRUE 0.00583197 ENSE00001241987_BRK ENSE00001241987 BRK 7 75216032 75216201 - 39 81 50 A,G; T,T NA NA NA GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAATTGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAACCGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC 75586713 75586883 NA NA NA NA NA NA GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAATTGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAACCGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC GACTGTTATGTTCTTGTTGTTGACTCTGTTTCCCCTCCTCTTCCTAAAAGGGCCACCTGAGCGAGGGGTATGGCCAGCTGTGCAGCATCTACCTGAAACTGCTAAGAACCAAGATGGAGTACCACACCAAAGTGAGTCTCTGCGGACAGTTCTGCCGCCACCGCCGCCTC control NA NA NA NA NA 336 181 0.017573911497796 0.077920934833224 0.04774742316551 0.99894102790595 0.985662273248586 0.928502375696363 0.993781716205154 NA NA -0.910928464198567 -0.91586078137193 0.992301650577268 0.961142045950758 NA -0.913394622785249 NA TRUE NA NA NA NA NA NA HIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HIP1 NA NA NA ENSG00000127946 ENSE00001241987 NA NA NA NA NA NA NA 0.999681016475132 TRUE NA ENSE00001243726_000 ENSE00001243726 000 8 27155949 27156118 - 32 96 42 NA NA NA NA NA AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 NA NA NA NA NA NA GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT natural 194 143 0.993168097865972 0.991858197520645 0.992513147693308 2681 1285 0.948330252803788 0.985992857265656 0.967161555034722 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 0 0 0 0 0.992513147693308 0.967161555034722 0 0 0 FALSE FALSE NA NA NA NA NA TRIM35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM35 NA NA NA ENSG00000104228 ENSE00003583595 NA NA NA NA NA NA NA 0.000940307552509518 FALSE NA ENSE00001243726_002 ENSE00001243726 002 8 27155949 27156118 - 32 96 42 T C 27155969 529 150 AATCTTCCCACTTGGCCCCACCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298451 27298452 27298452 downstr_intron 12 1.38709677419355 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGGTGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 53 157 1 0.959492776407409 0.979746388203705 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 -0.0265000808582465 0.992513147693308 0.967161555034722 NA 0.0125848331689827 NA FALSE NA 0 -2.368 . intron_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/2 1 NA ATC T,C 8.236e-06 8:27298452 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 intron_variant -0.088946 0.11268 0.00895 0.115753 0.237184980832302 0.046847 0.000940307552509518 FALSE 4.06537e-06 ENSE00001243726_003 ENSE00001243726 003 8 27155949 27156118 - 32 96 42 C T 27155970 530 149 AATCTTCCCACTTGGCCCCATTGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298452 27298453 27298453 downstr_intron 11 1.35483870967742 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACAATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 176 160 1 1 1 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.0140071427343441 0.992513147693308 0.967161555034722 NA 0.032838444965278 NA FALSE NA 0 -1.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:27298453 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 intron_variant -0.003034 0.1007 0.00748 0.115753 0.512595000524641 0.046847 0.000940307552509518 FALSE 2.03293e-05 ENSE00001243726_004 ENSE00001243726 004 8 27155949 27156118 - 32 96 42 C A 27155970 531 149 AATCTTCCCACTTGGCCCCATAGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298452 27298453 27298453 downstr_intron 11 1.35483870967742 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACTATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 45 428 1 0.997562500092556 0.998781250046278 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.0115696428269005 0.992513147693308 0.967161555034722 NA 0.0316196950115563 NA FALSE NA 0 -1.059 NA NA NA TRIM35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM35 NA NA NA ENSG00000104228 ENSE00003583595 intron_variant 0.082207 0.1021 0.00751 0.115753 0.450906739766353 0.046847 0.000940307552509518 FALSE 8.13173e-06 ENSE00001243726_005 ENSE00001243726 005 8 27155949 27156118 - 32 96 42 G A 27155971 532 148 AATCTTCCCACTTGGCCCCATCATTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298453 27298454 27298454 downstr_intron 10 1.32258064516129 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAATGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 12 577 0.878977244836668 0.999934016619861 0.939455630728265 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA -0.0693530079671202 0.0139411593542054 0.992513147693308 0.967161555034722 NA -0.0277059243064574 NA FALSE NA 0 -1.24 . intron_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/2 rs200284804 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGT G,A 6.589e-05 8:27298454 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 intron_variant -0.037886 0.07113 0.00545 0.115753 0.550147085334228 0.046847 0.000940307552509518 FALSE 6.50475e-05 ENSE00001243726_006 ENSE00001243726 006 8 27155949 27156118 - 32 96 42 T C 27155972 533 147 AATCTTCCCACTTGGCCCCATCGCTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298454 27298455 27298455 downstr_intron 9 1.29032258064516 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAGCGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 643 329 0.995616403159918 0.971051325582758 0.983333864371338 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.0472861503561295 -0.0149415316828976 0.992513147693308 0.967161555034722 NA 0.016172309336616 NA FALSE NA 0 -1.27 . intron_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/2 1 NA GTT T,C 8.236e-06 8:27298455 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 intron_variant -0.058232 0.09612 0.00269 0.115753 0.338378869834616 0.0542574 0.000940307552509518 FALSE 4.06471e-06 ENSE00001243726_007 ENSE00001243726 007 8 27155949 27156118 - 32 96 42 G A 27155975 534 144 AATCTTCCCACTTGGCCCCATCGTTCACTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298457 27298458 27298458 downstr_intron 6 1.19354838709677 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGTGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 2317 468 0.995066413748065 0.999323533659657 0.997194973703861 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.0467361609442768 0.0133306763940015 0.992513147693308 0.967161555034722 NA 0.0300334186691392 NA FALSE NA 0.035 0.013 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TRIM35 HGNC 16285 ENST00000519219 2/2 1 NA CGC G,A 2.471e-05 8:27298458 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 splice_region_variant 0.56468 0.83979 0.01128 0.115753 0.693547374989291 0.365036 0.000940307552509518 FALSE 1.62599e-05 ENSE00001243726_011 ENSE00001243726 011 8 27155949 27156118 - 32 96 42 G A 27155996 538 123 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCAATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298478 27298479 27298479 exon -16 0.84375 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATTGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 32 97 1 1 1 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.0140071427343441 0.992513147693308 0.967161555034722 NA 0.032838444965278 NA FALSE NA 0.184 -0.977 rs142080263 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 rs142080263 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 A:0.0002 A:0.0001 CGA G,A 0.0001647 8:27298479 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 synonymous_variant 2.144034 0.93225 0.08443 0.736574 0.837592782757252 0 0.000940307552509518 FALSE 0.000150362 ENSE00001243726_014 ENSE00001243726 014 8 27155949 27156118 - 32 96 42 T C 27156006 541 113 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCACAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298488 27298489 27298489 exon -26 0.739583333333333 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTGTGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 409 344 1 0.970378856777614 0.985189428388807 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 -0.0156140004880416 0.992513147693308 0.967161555034722 NA 0.0180278733540852 NA FALSE NA 0.997 2.955 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 1 NA ATA T,C 3.295e-05 8:27298489 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 missense_variant 3.807179 0.96983 0.85436 0.736574 0.997206039374087 0 0.000940307552509518 FALSE 6.50142e-05 ENSE00001243726_015 ENSE00001243726 015 8 27155949 27156118 - 32 96 42 G A 27156008 542 111 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAAGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298490 27298491 27298491 exon -28 0.71875 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCTTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 274 47 1 0.985897804798076 0.992948902399038 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 -9.50524675794595e-05 0.992513147693308 0.967161555034722 NA 0.0257873473643163 NA FALSE NA 1 0.46 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 rs528062888 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGG G,A 8.236e-06 8:27298491 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 synonymous_variant 1.351605 0.94856 0.63737 0.736574 0.76295502890916 0 0.000940307552509518 FALSE 2.03184e-05 ENSE00001243726_016 ENSE00001243726 016 8 27155949 27156118 - 32 96 42 C T 27156012 543 107 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGTGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298494 27298495 27298495 exon -32 0.677083333333333 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCACTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 48 151 1 0.939340722747146 0.969670361373573 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 -0.0466521345185102 0.992513147693308 0.967161555034722 NA 0.00250880633885087 NA FALSE NA 0.979 2.799 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 1 NA GCG C,T 1.647e-05 8:27298495 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 missense_variant 7.250929 0.97676 0.8478 0.736574 0.998897209560481 0 0.000940307552509518 FALSE 1.62562e-05 ENSE00001243726_021 ENSE00001243726 021 8 27155949 27156118 - 32 96 42 G A 27156021 548 98 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGACCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298503 27298504 27298504 exon -41 0.583333333333333 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGTCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 51 117 0.996981504677506 1 0.998490752338753 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.0486512518737183 0.0140071427343441 0.992513147693308 0.967161555034722 NA 0.0313291973040312 NA FALSE NA 0.982 3.804 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 1 NA GGC G,A 1.647e-05 8:27298504 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 missense_variant 3.382934 0.96381 0.85205 0.736574 0.997480509937129 0 0.000940307552509518 FALSE 8.1283e-06 ENSE00001243726_026 ENSE00001243726 026 8 27155949 27156118 - 32 96 42 C T 27156037 553 82 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGTCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298519 27298520 27298520 exon 40 0.416666666666667 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGACCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 324 151 1 0.991527181520712 0.995763590760356 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.00553432425505573 0.992513147693308 0.967161555034722 NA 0.0286020357256339 NA FALSE NA 1 2.845 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 rs374055302 1 NA T:0 T:0.0001 GCC C,T 8.236e-06 8:27298520 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 missense_variant 2.874141 0.96437 0.7777 0.736574 0.99577492320569 0 0.000940307552509518 FALSE 2.03222e-05 ENSE00001243726_027 ENSE00001243726 027 8 27155949 27156118 - 32 96 42 C T 27156045 554 74 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCTGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298527 27298528 27298528 exon 32 0.333333333333333 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCAGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 25 648 1 0.98916000640713 0.994580003203565 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.00316714914147398 0.992513147693308 0.967161555034722 NA 0.027418448168843 NA FALSE NA 1 1.948 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 1 NA CCG C,T 2.471e-05 8:27298528 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 missense_variant 3.133496 0.95342 0.76284 0.736574 0.983872313291365 0 0.000940307552509518 FALSE 1.21936e-05 ENSE00001243726_029 ENSE00001243726 029 8 27155949 27156118 - 32 96 42 A G 27156060 556 59 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCGTGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298542 27298543 27298543 exon 17 0.177083333333333 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACACGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 97 39 1 1 1 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.0140071427343441 0.992513147693308 0.967161555034722 NA 0.032838444965278 NA FALSE NA 1 5.18 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 1 NA CAT A,G 8.236e-06 8:27298543 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 missense_variant 4.100015 0.97401 0.93507 0.736574 0.913681934101591 0 0.000940307552509518 FALSE NA ENSE00001243726_030 ENSE00001243726 030 8 27155949 27156118 - 32 96 42 T C 27156067 557 52 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCCGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298549 27298550 27298550 exon 10 0.104166666666667 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCGGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 74 65 1 0.995174231885903 0.997587115942952 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.00918137462024737 0.992513147693308 0.967161555034722 NA 0.0304255609082297 NA FALSE NA 1 1.386 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 2/3 rs375639360 1 NA C:0.0002 C:0.0001 CTG T,C 4.118e-05 8:27298550 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 missense_variant 4.314596 0.96032 0.7451 0.736574 0.995712516091634 0 0.000940307552509518 FALSE 4.87983e-05 ENSE00001243726_031 ENSE00001243726 031 8 27155949 27156118 - 32 96 42 G A 27156079 558 40 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTAACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298561 27298562 27298562 upstr_intron -3 -0.0476190476190476 GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTTAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 136 132 1 1 1 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.0140071427343441 0.992513147693308 0.967161555034722 NA 0.032838444965278 NA FALSE NA 0.016 0.361 rs113764844 splice_region_variant&intron_variant&non_coding_transcript_variant LOW TRIM35 HGNC 16285 ENST00000519219 1/2 rs113764844 1 NA TGA G,A 0.00014 8:27298562 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 splice_region_variant 1.181291 0.87342 0.05088 0.099367 0.699534497967085 0.348735 0.000940307552509518 FALSE 0.000199378 ENSE00001243726_034 ENSE00001243726 034 8 27155949 27156118 - 32 96 42 G C 27156098 561 21 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGACGGAGGAAGACAGGTTAGGGC 27298431 27298601 27298580 27298581 27298581 upstr_intron -22 -0.5 GCCCTAACCTGTCTTCCTCCGTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 56 184 1 1 1 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.0140071427343441 0.992513147693308 0.967161555034722 NA 0.032838444965278 NA FALSE NA 0.001 -0.4 . intron_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 1/2 1 NA AGG G,C 8.236e-06 8:27298581 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 intron_variant -0.372526 0.12731 0.00588 0.084033 0.518092724053754 0.0484491 0.000940307552509518 FALSE 4.08027e-06 ENSE00001243726_035 ENSE00001243726 035 8 27155949 27156118 - 32 96 42 G T 27156106 562 13 AATCTTCCCACTTGGCCCCATCGTTCGCTCACCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCCTGACATGGGAATGAGAGAGAGGGAGGAATACAGGTTAGGGC 27298431 27298601 27298588 27298589 27298589 upstr_intron -30 -0.69047619047619 GCCCTAACCTGTATTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT mutant NA NA NA NA NA 19 24 1 0.993352394273643 0.996676197136821 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 NA NA 0.051669747196212 0.00735953700798697 0.992513147693308 0.967161555034722 NA 0.0295146421020995 NA FALSE NA 0.011 0.589 . intron_variant&non_coding_transcript_variant MODIFIER TRIM35 HGNC 16285 ENST00000519219 1/2 1 NA AGA G,T 8.237e-06 8:27298589 TRIM35 HGNC Symbol protein_coding 26432 ENSG00000104228 ENSE00003583595 intron_variant 0.054868 0.19805 0.09946 0.084033 0.706312744194705 0.0484491 0.000940307552509518 FALSE NA ENSE00001243726_BRK ENSE00001243726 BRK 8 27155949 27156118 - 32 96 42 A,G; T,T NA NA NA AATCTTCCCACTTGGCCCCATCGTTCGCTCGGCTGATTGTGCTTGGCGATGGCCTCATAGGAGCGCCGCATGGCCCAGAAGGCCTTGGCCTTCTCCCGCAGTGCATGCTCCATGTTCCTGCACTTGGCAAGACATGGGAATGAGAGAGAGGGAGGAAGACAGGTTAGGGC 27298431 27298601 NA NA NA NA NA NA GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCTTGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGCCGAGCGAACGATGGGGCCAAGTGGGAAGATT GCCCTAACCTGTCTTCCTCCCTCTCTCTCATTCCCATGTCAGGCCAAGTGCAGGAACATGGAGCATGCACTGCGGGAGAAGGCCAAGGCCTTCTGGGCCATGCGGCGCTCCTATGAGGCCATCGCCAAGCACAATCAGGTGAGCGAACGATGGGGCCAAGTGGGAAGATT control 35 74 0.0370774136879328 0 0.0185387068439664 NA NA NA NA NA 0.993168097865972 0.991858197520645 0.948330252803788 0.985992857265656 -0.956090684178039 -0.991858197520645 NA NA 0.992513147693308 0.967161555034722 -0.973974440849342 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM35 NA NA NA ENSG00000104228 ENSE00003583595 NA NA NA NA NA NA NA 0.000940307552509518 FALSE NA ENSE00001244678_000 ENSE00001244678 000 1 86529341 86529510 - 57 45 68 NA NA NA NA NA CCTATGTTTCGTTATTTGGCTTATATGAGTTTACTTTTCATAGCATGTCTCCACTTATTCTTTTACAGGGTCTCAAAGGACATCCTGGACTCCCAGGACTTCCAGGTGAACAAGTAGGTACTTCCTTTATAAGACTTGTATCATGTGTGAAAAAGACACATGTTAGAGAA 86063657 86063827 NA NA NA NA NA NA CCTATGTTTCGTTATTTGGCTTATATGAGTTTACTTTTCATAGCATGTCTCCACTTATTCTTTTACAGGGTCTCAAAGGACATCCTGGACTCCCAGGACTTCCAGGTGAACAAGTAGGTACTTCCTTTATAAGACTTGTATCATGTGTGAAAAAGACACATGTTAGAGAA CCTATGTTTCGTTATTTGGCTTATATGAGTTTACTTTTCATAGCATGTCTCCACTTATTCTTTTACAGGGTCTCAAAGGACATCCTGGACTCCCAGGACTTCCAGGTGAACAAGTAGGTACTTCCTTTATAAGACTTGTATCATGTGTGAAAAAGACACATGTTAGAGAA natural NA NA NA NA NA 348 646 0.999050084522411 0.986458943006608 0.992754513764509 NA NA 0.999050084522411 0.986458943006608 NA NA 0 0 NA 0.992754513764509 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00001244678 NA NA NA NA NA NA NA NA NA NA ENSE00001244704_000 ENSE00001244704 000 1 86580955 86581124 - 53 54 63 NA NA NA NA NA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 NA NA NA NA NA NA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA natural NA NA NA NA NA 1136 2147 0.910693543280577 0.992085426383728 0.951389484832152 NA NA 0.910693543280577 0.992085426383728 NA NA 0 0 NA 0.951389484832152 NA 0 NA FALSE NA NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001244704 NA NA NA NA NA NA NA 1.06341054664097e-25 FALSE NA ENSE00001244704_002 ENSE00001244704 002 1 86580955 86581124 - 53 54 63 A G 86580989 2471 136 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATACTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115305 86115306 86115306 downstr_intron 19 1.36538461538462 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATACTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 103 162 1 0.999022493123478 0.999511246561739 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0893064567194229 0.00693706673975036 NA 0.951389484832152 NA 0.0481217617295867 NA FALSE NA 0.001 0.71 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 4/57 rs530423277 1 G:0.0008 G:0 G:0 NA G:0 G:0 G:0.0041 AAT A,G 0.0003145 1:86115306 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 intron_variant 1.464604 0.23354 0.07563 0.061011 0.662036077789647 0.232797 1.06341054664097e-25 FALSE 0.000289175 ENSE00001244704_005 ENSE00001244704 005 1 86580955 86581124 - 53 54 63 C A 86581000 2474 125 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTATATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115316 86115317 86115317 downstr_intron 8 1.15384615384615 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTATATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 77 238 1 0.996902803031337 0.998451401515669 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0893064567194229 0.00481737664760984 NA 0.951389484832152 NA 0.0470619166835164 NA FALSE NA 0.09 0.112 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 4/57 1 NA TCT C,A 3.311e-05 1:86115317 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 splice_region_variant 1.873068 0.69879 0.14996 0.061011 0.716237242764813 0.481212 1.06341054664097e-25 FALSE 1.22092e-05 ENSE00001244704_007 ENSE00001244704 007 1 86580955 86581124 - 53 54 63 C T 86581009 2476 116 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACAGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115325 86115326 86115326 exon -2 0.981481481481482 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACAGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 848 342 1 1 1 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0893064567194229 0.00791457361627235 NA 0.951389484832152 NA 0.0486105151678476 NA FALSE NA 1 5.709 . missense_variant&splice_region_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 4/58 rs370046426 1 probably_damaging(0.999) NA T:0 T:0.0001 CCG C,T 8.276e-06 1:86115326 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 missense_variant 6.190636 0.98711 0.96288 0.487112 0.999101585184873 0 1.06341054664097e-25 FALSE 8.13451e-06 ENSE00001244704_009 ENSE00001244704 009 1 86580955 86581124 - 53 54 63 T C 86581021 2478 104 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAGGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115337 86115338 86115338 exon -14 0.759259259259259 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAGGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 4556 185 0.998397787294577 1 0.999198893647288 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0877042440139999 0.00791457361627235 NA 0.951389484832152 NA 0.0478094088151361 NA FALSE NA 1 0.925 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 4/58 1 benign(0.054) NA CTT T,C 8.276e-06 1:86115338 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 missense_variant 1.745553 0.96854 0.77953 0.487112 0.996856276042971 0 1.06341054664097e-25 FALSE 4.06547e-06 ENSE00001244704_013 ENSE00001244704 013 1 86580955 86581124 - 53 54 63 C A 86581034 2482 91 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCATGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115350 86115351 86115351 exon -27 0.518518518518518 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCATGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 1560 61 0.997220367636343 0.997398427262938 0.99730939744964 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0865268243557655 0.00531300087921005 NA 0.951389484832152 NA 0.0459199126174878 NA FALSE NA 1 5.709 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:86115351 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 missense_variant 5.494039 0.98764 0.96941 0.553676 0.992990900376715 0 1.06341054664097e-25 FALSE 5.69295e-05 ENSE00001244704_014 ENSE00001244704 014 1 86580955 86581124 - 53 54 63 C T 86581034 2483 91 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAAGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115350 86115351 86115351 exon -27 0.518518518518518 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAAGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 1331 93 0.996802907125398 0.993172020975997 0.994987464050697 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0861093638448213 0.0010865945922689 NA 0.951389484832152 NA 0.0435979792185451 NA FALSE NA 1 5.709 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001244704 missense_variant 5.220212 0.98711 0.96288 0.553676 0.996930717012964 0 1.06341054664097e-25 FALSE 4.0664e-06 ENSE00001244704_016 ENSE00001244704 016 1 86580955 86581124 - 53 54 63 T A 86581040 2485 85 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTTTCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115356 86115357 86115357 exon 22 0.407407407407407 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTTTCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 345 242 1 0.998090273399059 0.999045136699529 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0893064567194229 0.00600484701533088 NA 0.951389484832152 NA 0.0476556518673769 NA FALSE NA 0.999 0.482 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 4/58 rs370307196 1 possibly_damaging(0.597) NA A:0 A:0.0004 ATA T,A 4.138e-05 1:86115357 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 missense_variant 3.98733 0.96077 0.58058 0.553676 0.913771279920408 0 1.06341054664097e-25 FALSE 2.03295e-05 ENSE00001244704_017 ENSE00001244704 017 1 86580955 86581124 - 53 54 63 T G 86581056 2486 69 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCCCCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115372 86115373 86115373 exon 6 0.111111111111111 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCCCCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 383 33 1 1 1 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0893064567194229 0.00791457361627235 NA 0.951389484832152 NA 0.0486105151678476 NA FALSE NA 0.924 -0.256 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 4/58 1 NA GTG T,G 2.483e-05 1:86115373 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 synonymous_variant 0.797988 0.95488 0.45981 0.553676 0.733794979751496 0 1.06341054664097e-25 FALSE 1.62725e-05 ENSE00001244704_020 ENSE00001244704 020 1 86580955 86581124 - 53 54 63 T C 86581075 2489 50 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACGTTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115391 86115392 86115392 upstr_intron -14 -0.206349206349206 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACGTTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 1408 36 1 0.995581217394881 0.99779060869744 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0893064567194229 0.00349579101115305 NA 0.951389484832152 NA 0.046401123865288 NA FALSE NA 0.128 0.209 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 3/57 1 NA ATG T,C 8.276e-06 1:86115392 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 intron_variant 1.002761 0.20819 0.03206 0.061011 0.694524883240005 0.231487 1.06341054664097e-25 FALSE 4.07451e-06 ENSE00001244704_021 ENSE00001244704 021 1 86580955 86581124 - 53 54 63 C T 86581083 2490 42 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATATCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115399 86115400 86115400 upstr_intron -22 -0.333333333333333 AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATATCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant 35 46 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.910693543280577 0.992085426383728 NA NA NA NA NA 0.951389484832152 NA NA NA NA NA 0 -0.89 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 3/57 1 NA ACA C,T 8.276e-06 1:86115400 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 intron_variant 1.200349 0.18366 0.00559 0.061011 0.68812941270359 0.109484 1.06341054664097e-25 FALSE 1.63499e-05 ENSE00001244704_023 ENSE00001244704 023 1 86580955 86581124 - 53 54 63 A G 86581096 2492 29 AGACTCGTAAGAAAATAAATGTGTCCACCATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115412 86115413 86115413 upstr_intron -35 -0.53968253968254 AGACTCGTAAGAAAATAAATGTGTCCACCATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 24 11 1 1 1 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0893064567194229 0.00791457361627235 NA 0.951389484832152 NA 0.0486105151678476 NA FALSE NA 0.005 1.448 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 3/57 1 NA TAG A,G 8.276e-06 1:86115413 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 intron_variant -0.3433 0.26766 0.26571 0.061011 0.457525075791697 0.105362 1.06341054664097e-25 FALSE 4.16323e-06 ENSE00001244704_025 ENSE00001244704 025 1 86580955 86581124 - 53 54 63 C G 86581102 2494 23 AGACTCGTAAGAAAATAAATGTCTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115418 86115419 86115419 upstr_intron -41 -0.634920634920635 AGACTCGTAAGAAAATAAATGTCTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 32 149 0.975869111614299 1 0.987934555807149 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0651755683337215 0.00791457361627235 NA 0.951389484832152 NA 0.0365450709749969 NA FALSE NA 0 -0.906 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 3/57 rs376550908 1 NA G:0 G:0.0001 ACA C,G 8.276e-06 1:86115419 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 intron_variant -0.561805 0.25313 0.19806 0.061011 0.321386827046955 0.0640786 1.06341054664097e-25 FALSE 1.25829e-05 ENSE00001244704_026 ENSE00001244704 026 1 86580955 86581124 - 53 54 63 C A 86581104 2495 21 AGACTCGTAAGAAAATAAATTTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 86115420 86115421 86115421 upstr_intron -43 -0.666666666666667 AGACTCGTAAGAAAATAAATTTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA mutant NA NA NA NA NA 35 370 0.998818218615157 1 0.999409109307578 NA NA 0.910693543280577 0.992085426383728 NA NA 0.0881246753345796 0.00791457361627235 NA 0.951389484832152 NA 0.048019624475426 NA FALSE NA 0 -0.333 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 3/57 1 NA ACA C,A 8.277e-06 1:86115421 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00001244704 intron_variant -0.167284 0.20271 0.06103 0.061011 0.379008519071938 0.0818892 1.06341054664097e-25 FALSE 8.49545e-06 ENSE00001244704_BRK ENSE00001244704 BRK 1 86580955 86581124 - 53 54 63 A,G; T,T NA NA NA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCATTGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGCCAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA 86115271 86115441 NA NA NA NA NA NA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCATTGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGCCAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA AGACTCGTAAGAAAATAAATGTGTCCACTATCATGCCTAATGTCTTGACATTTGTTTTCCAAGGGTCCACCTGGTCCAGCAGGTATCCCAGGTCCGTCAGGGAAGAGAGGTCCACGGGTAAGTAGATGGGCTATATTTCCTGCTGGCAGTGAGAATTTGTAACTTTCTAA control NA NA NA NA NA 48 29 0 0 0 NA NA 0.910693543280577 0.992085426383728 NA NA -0.910693543280577 -0.992085426383728 NA 0.951389484832152 NA -0.951389484832152 NA TRUE NA NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00001244704 NA NA NA NA NA NA NA 1.06341054664097e-25 FALSE NA ENSE00001247134_000 ENSE00001247134 000 15 54847580 54847749 + 50 81 39 NA NA NA NA NA GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 NA NA NA NA NA NA TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC natural 17 13 0.99011293781948 1 0.99505646890974 3786 3181 0.941335565069409 0.961260105807363 0.951297835438386 0.99011293781948 1 0.941335565069409 0.961260105807363 0 0 0 0 0.99505646890974 0.951297835438386 0 0 0 FALSE FALSE NA NA NA NA NA UNC13C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13C NA NA NA ENSG00000137766 ENSE00001247134 NA NA NA NA NA NA NA 3.68783135222941e-07 FALSE NA ENSE00001247134_001 ENSE00001247134 001 15 54847580 54847749 + 50 81 39 C A 54847608 1025 29 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTTCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555409 54555410 54555410 upstr_intron -22 -0.42 TGAATACATGAACTGGTTGTTTTATAAGAAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant 34 14 0.864339048858615 0.968011745587561 0.916175397223088 272 934 0.978491177775612 0.999216302688677 0.988853740232144 0.99011293781948 1 0.941335565069409 0.961260105807363 -0.125773888960864 -0.0319882544124392 0.0371556127062036 0.0379561968813139 0.99505646890974 0.951297835438386 -0.0788810716866519 0.0375559047937588 0.116436976480411 FALSE FALSE 0 -1.181 . intron_variant MODIFIER UNC13C HGNC 23149 ENST00000537900 26/30 1 NA GCA C,A 8.281e-06 15:54555410 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 intron_variant 0.512635 0.24511 0.06482 0.061011 0.718234670671915 0.115161 3.68783135222941e-07 FALSE NA ENSE00001247134_002 ENSE00001247134 002 15 54847580 54847749 + 50 81 39 A C 54847610 1026 31 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAAGTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555411 54555412 54555412 upstr_intron -20 -0.38 TGAATACATGAACTGGTTGTTTTATAAGCACTTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 457 843 0.998367708819327 0.99794226832835 0.998154988573838 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0570321437499183 0.0366821625209871 0.99505646890974 0.951297835438386 NA 0.0468571531354527 NA FALSE NA 0 -1.675 . intron_variant MODIFIER UNC13C HGNC 23149 ENST00000537900 26/30 1 NA AAT A,C 8.281e-06 15:54555412 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 intron_variant -0.10949 0.22046 0.05283 0.061011 0.498463131525365 0.115161 3.68783135222941e-07 FALSE 4.10108e-06 ENSE00001247134_003 ENSE00001247134 003 15 54847580 54847749 + 50 81 39 C G 54847613 1027 34 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAACAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555414 54555415 54555415 upstr_intron -17 -0.32 TGAATACATGAACTGGTTGTTTTATAAGCAATTGTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 1589 1111 1 0.999691112611281 0.999845556305641 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0586644349305914 0.0384310068039184 0.99505646890974 0.951297835438386 NA 0.0485477208672549 NA FALSE NA 0 -1.805 . intron_variant MODIFIER UNC13C HGNC 23149 ENST00000537900 26/30 1 NA TCT C,G 8.281e-06 15:54555415 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 intron_variant -0.531266 0.07965 0.01437 0.061011 0.487951345373551 0.167879 3.68783135222941e-07 FALSE 4.09839e-06 ENSE00001247134_004 ENSE00001247134 004 15 54847580 54847749 + 50 81 39 C T 54847626 1028 47 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGAAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555427 54555428 54555428 upstr_intron -4 -0.06 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTTCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 1451 549 0.998172457166518 1 0.999086228583259 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0568368920971097 0.0387398941926373 0.99505646890974 0.951297835438386 NA 0.0477883931448735 NA FALSE NA 0.424 -0.465 . splice_region_variant&intron_variant LOW UNC13C HGNC 23149 ENST00000537900 26/30 1 NA TCC C,T 6.624e-05 15:54555428 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 splice_region_variant 1.906899 0.97193 0.29281 0.061011 0.715494138114146 0.569515 3.68783135222941e-07 FALSE 7.36299e-05 ENSE00001247134_005 ENSE00001247134 005 15 54847580 54847749 + 50 81 39 C G 54847633 1029 54 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTCCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555434 54555435 54555435 exon 4 0.0493827160493827 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGGACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 610 1704 0.997984146475287 0.996829662086825 0.997406904281056 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0566485814058788 0.0355695562794619 0.99505646890974 0.951297835438386 NA 0.0461090688426704 NA FALSE NA 1 7.139 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 benign(0.09) NA GCA C,G 8.279e-06 15:54555435 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 4.811654 0.99575 0.99127 0.487112 0.990915227172074 0 3.68783135222941e-07 FALSE 4.0869e-06 ENSE00001247134_006 ENSE00001247134 006 15 54847580 54847749 + 50 81 39 A T 54847636 1030 57 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCAAGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555437 54555438 54555438 exon 7 0.0864197530864197 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACTTGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 315 676 0.950842109469912 1 0.975421054734956 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.00950654440050369 0.0387398941926373 0.99505646890974 0.951297835438386 NA 0.0241232192965705 NA FALSE NA 0.999 2.358 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 benign(0.003) NA CAT A,T 8.279e-06 15:54555438 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 2.809438 0.98782 0.90838 0.487112 0.979866281514917 0 3.68783135222941e-07 FALSE 1.22586e-05 ENSE00001247134_007 ENSE00001247134 007 15 54847580 54847749 + 50 81 39 G C 54847643 1031 64 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTGGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555444 54555445 54555445 exon 14 0.172839506172839 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCCAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 177 302 1 1 1 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0586644349305914 0.0387398941926373 0.99505646890974 0.951297835438386 NA 0.0487021645616144 NA FALSE NA 1 9.029 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:54555445 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 7.75162 0.99584 0.9942 0.487112 0.997887355962492 0 3.68783135222941e-07 FALSE 8.17027e-06 ENSE00001247134_008 ENSE00001247134 008 15 54847580 54847749 + 50 81 39 G A 54847643 1032 64 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTTGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555444 54555445 54555445 exon 14 0.172839506172839 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCAAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 875 1986 0.994136428128723 0.992974716850429 0.993555572489576 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.052800863059314 0.0317146110430664 0.99505646890974 0.951297835438386 NA 0.0422577370511902 NA FALSE NA 1 9.029 NA NA NA UNC13C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13C NA NA NA ENSG00000137766 ENSE00001247134 missense_variant 7.849112 0.9956 0.99276 0.487112 0.999470558700543 0 3.68783135222941e-07 FALSE 1.63405e-05 ENSE00001247134_009 ENSE00001247134 009 15 54847580 54847749 + 50 81 39 A T 54847649 1033 70 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCAACCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555450 54555451 54555451 exon 20 0.246913580246914 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGTTGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 254 1176 1 0.999461686339176 0.999730843169588 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0586644349305914 0.0382015805318132 0.99505646890974 0.951297835438386 NA 0.0484330077312023 NA FALSE NA 1 6.711 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 benign(0.139) NA GAT A,T 8.278e-06 15:54555451 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 3.867525 0.99445 0.98768 0.487112 0.945109252963362 0 3.68783135222941e-07 FALSE 8.16893e-06 ENSE00001247134_010 ENSE00001247134 010 15 54847580 54847749 + 50 81 39 C A 54847652 1034 73 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGTCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555453 54555454 54555454 exon 23 0.283950617283951 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGACAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 1341 2465 0.999969307471616 0.987889176509782 0.993929241990699 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0586337424022079 0.0266290707024195 0.99505646890974 0.951297835438386 NA 0.0426314065523137 NA FALSE NA 1 5.453 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 possibly_damaging(0.501) NA GCC C,A 8.278e-06 15:54555454 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 6.155494 0.9895 0.98034 0.487112 0.995403198072133 0 3.68783135222941e-07 FALSE NA ENSE00001247134_011 ENSE00001247134 011 15 54847580 54847749 + 50 81 39 A G 54847654 1035 75 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCCGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555455 54555456 54555456 exon 25 0.308641975308642 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCGGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 693 1289 0.863636828111954 0.689825079922102 0.776730954017028 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA -0.0776987369574542 -0.27143502588526 0.99505646890974 0.951297835438386 NA -0.174566881421357 NA FALSE NA 1 5.549 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 benign(0.127) NA CAG A,G 8.278e-06 15:54555456 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 4.918279 0.99438 0.98424 0.487112 0.996883519027064 0 3.68783135222941e-07 FALSE NA ENSE00001247134_012 ENSE00001247134 012 15 54847580 54847749 + 50 81 39 G A 54847658 1036 79 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGATCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555459 54555460 54555460 exon 29 0.358024691358025 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGATCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 1326 1515 0.994340463575619 0.996129802198184 0.995235132886901 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0530048985062105 0.034869696390821 0.99505646890974 0.951297835438386 NA 0.0439372974485158 NA FALSE NA 1 5.664 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 benign(0.009) NA GGT G,A 8.278e-06 15:54555460 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 3.818981 0.99176 0.97647 0.487112 0.99162642822626 0 3.68783135222941e-07 FALSE 8.17227e-06 ENSE00001247134_013 ENSE00001247134 013 15 54847580 54847749 + 50 81 39 C T 54847664 1037 85 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCATCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555465 54555466 54555466 exon 35 0.432098765432099 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGATGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 915 2649 0.983694263908253 0.96020552317396 0.971949893541107 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0423586988388448 -0.00105458263340219 0.99505646890974 0.951297835438386 NA 0.0206520581027213 NA FALSE NA 0.997 3.493 rs186728296 missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 rs186728296&COSM3816370&COSM3816371&COSM3816372 1 probably_damaging(0.95) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACG C,T 5.794e-05 15:54555466 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 7.205728 0.99181 0.96166 0.487112 0.998988128282359 0 3.68783135222941e-07 FALSE 2.86079e-05 ENSE00001247134_014 ENSE00001247134 014 15 54847580 54847749 + 50 81 39 G A 54847665 1038 86 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGTGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555466 54555467 54555467 exon 36 0.444444444444444 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACACCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 1312 176 0.996497466095116 1 0.998248733047558 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0551619010257074 0.0387398941926373 0.99505646890974 0.951297835438386 NA 0.0469508976091724 NA FALSE NA 0 -3.861 . synonymous_variant LOW UNC13C HGNC 23149 ENST00000537900 27/31 1 NA CGC G,A 8.277e-06 15:54555467 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 synonymous_variant 1.692785 0.32261 0.0163 0.487112 0.622863186004856 0 3.68783135222941e-07 FALSE 8.17514e-06 ENSE00001247134_015 ENSE00001247134 015 15 54847580 54847749 + 50 81 39 C G 54847666 1039 87 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGCCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555467 54555468 54555468 exon 37 0.45679012345679 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGGCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 344 781 1 1 1 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0586644349305914 0.0387398941926373 0.99505646890974 0.951297835438386 NA 0.0487021645616144 NA FALSE NA 0.962 3.497 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 benign(0.065) NA GCC C,G 8.277e-06 15:54555468 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 1.665715 0.96618 0.93757 0.487112 0.954844174174398 0 3.68783135222941e-07 FALSE 4.0868e-06 ENSE00001247134_016 ENSE00001247134 016 15 54847580 54847749 + 50 81 39 C T 54847672 1040 93 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTATCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555473 54555474 54555474 exon -39 0.530864197530864 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGATAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 118 345 0.975360277776918 0.975279599192838 0.975319938484878 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.034024712707509 0.0140194933854755 0.99505646890974 0.951297835438386 NA 0.0240221030464922 NA FALSE NA 1 7.139 . stop_gained HIGH UNC13C HGNC 23149 ENST00000537900 27/31 1 NA HC ACA C,T 8.278e-06 15:54555474 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 stop_gained 16.078032 0.99551 0.98886 0.487112 0.998159150362299 0 3.68783135222941e-07 FALSE 4.08757e-06 ENSE00001247134_017 ENSE00001247134 017 15 54847580 54847749 + 50 81 39 A G 54847674 1041 95 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCACTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555475 54555476 54555476 exon -37 0.555555555555556 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAGTGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 1022 1989 0.998001474342166 0.997095415814674 0.99754844507842 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0566659092727569 0.035835310007311 0.99505646890974 0.951297835438386 NA 0.046250609640034 NA FALSE NA 1 0.854 . synonymous_variant LOW UNC13C HGNC 23149 ENST00000537900 27/31 1 NA AAT A,G 2.483e-05 15:54555476 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 synonymous_variant 0.245537 0.95667 0.11868 0.487112 0.493615718311106 0 3.68783135222941e-07 FALSE 2.45296e-05 ENSE00001247134_018 ENSE00001247134 018 15 54847580 54847749 + 50 81 39 C T 54847677 1042 98 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCACATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555478 54555479 54555479 exon -34 0.592592592592593 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGTGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 448 692 0.998919093234895 0.994938388767005 0.99692874100095 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0575835281654868 0.0336782829596424 0.99505646890974 0.951297835438386 NA 0.0456309055625646 NA FALSE NA 0.969 0.038 rs11639005 synonymous_variant LOW UNC13C HGNC 23149 ENST00000537900 27/31 rs11639005 1 T:0.4093 T:0.1233 T:0.464 NA T:0.5427 T:0.4423 T:0.5859 T:0.1746 T:0.4313 GCG C,T 0.444 15:54555479 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 synonymous_variant 1.604446 0.95009 0.21332 0.487112 0.447337835681334 0 3.68783135222941e-07 FALSE 0.448122 ENSE00001247134_019 ENSE00001247134 019 15 54847580 54847749 + 50 81 39 G A 54847678 1043 99 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGTGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555479 54555480 54555480 exon -33 0.604938271604938 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCACTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant 24 11 0.979075759414048 0.962188492121558 0.970632125767803 1037 968 0.996543088159095 0.998371621680388 0.997457354919741 0.99011293781948 1 0.941335565069409 0.961260105807363 -0.0110371784054312 -0.0378115078784419 0.0552075230896864 0.0371115158730252 0.99505646890974 0.951297835438386 -0.0244243431419365 0.0461595194813558 0.0705838626232923 FALSE FALSE 1 3.531 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 benign(0.028) NA CGC G,A 8.278e-06 15:54555480 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 2.90275 0.97876 0.9361 0.487112 0.985537194924384 0 3.68783135222941e-07 FALSE NA ENSE00001247134_020 ENSE00001247134 020 15 54847580 54847749 + 50 81 39 C T 54847679 1044 100 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAACGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555480 54555481 54555481 exon -32 0.617283950617284 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGTTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 336 1315 1 0.999971054324522 0.999985527162261 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0586644349305914 0.0387109485171591 0.99505646890974 0.951297835438386 NA 0.0486876917238752 NA FALSE NA 1 5.457 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 rs201231517 1 benign(0.079) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCT C,T 8.278e-06 15:54555481 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 4.59761 0.99207 0.97943 0.487112 0.996807818495857 0 3.68783135222941e-07 FALSE 4.09068e-06 ENSE00001247134_022 ENSE00001247134 022 15 54847580 54847749 + 50 81 39 C G 54847707 1046 128 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCACCTTCATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555508 54555509 54555509 exon -4 0.962962962962963 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATGAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 1169 1132 0.988629755146879 0.998740515866068 0.993685135506474 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0472941900774707 0.0374804100587054 0.99505646890974 0.951297835438386 NA 0.0423873000680881 NA FALSE NA 0.998 0.346 . missense_variant MODERATE UNC13C HGNC 23149 ENST00000537900 27/31 1 probably_damaging(0.934) NA TCA C,G 8.281e-06 15:54555509 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 missense_variant 5.09116 0.98554 0.92433 0.487112 0.996053294712667 0 3.68783135222941e-07 FALSE 2.4748e-05 ENSE00001247134_023 ENSE00001247134 023 15 54847580 54847749 + 50 81 39 G A 54847711 1047 132 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCATCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555512 54555513 54555513 downstr_intron 1 1.02631578947368 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGATGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 45 211 0.991467407139823 0.978413679249542 0.984940543194682 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0501318420704139 0.017153573442179 0.99505646890974 0.951297835438386 NA 0.0336427077562965 NA FALSE NA 1 9.029 . splice_donor_variant HIGH UNC13C HGNC 23149 ENST00000537900 27/30 rs201222482 1 NA HC GGT G,A 8.282e-06 15:54555513 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 splice_donor_variant 5.475934 0.99678 0.99816 0.061011 0.995185826506236 0.986153 3.68783135222941e-07 FALSE NA ENSE00001247134_024 ENSE00001247134 024 15 54847580 54847749 + 50 81 39 G A 54847713 1048 134 GCCTCTCTCGATGTATATATAGGAGCATTATAATCTTACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555514 54555515 54555515 downstr_intron 3 1.07894736842105 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTAAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 2252 1501 0.996083346911412 0.810268906652298 0.903176126781855 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0547477818420035 -0.150991199155065 0.99505646890974 0.951297835438386 NA -0.0481217086565308 NA FALSE NA 0.975 1.463 rs150559181 splice_region_variant&intron_variant LOW UNC13C HGNC 23149 ENST00000537900 27/30 rs150559181 1 A:0.0054 A:0.0204 A:0 NA A:0 A:0 A:0 A:0.0137 A:0 TGA G,A 0.001739 15:54555515 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 splice_region_variant 0.770794 0.79906 0.10935 0.061011 0.669088704701926 0.472585 3.68783135222941e-07 FALSE 0.00141531 ENSE00001247134_025 ENSE00001247134 025 15 54847580 54847749 + 50 81 39 T A 54847720 1049 141 GCCTCTCTCGATGTATATATAGGAGCATTTTAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555521 54555522 54555522 downstr_intron 10 1.26315789473684 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTAAAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 952 284 0.996903590490157 1 0.998451795245079 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0555680254207486 0.0387398941926373 0.99505646890974 0.951297835438386 NA 0.047153959806693 NA FALSE NA 0 0.384 . intron_variant MODIFIER UNC13C HGNC 23149 ENST00000537900 27/30 1 NA ATA T,A 0.0002568 15:54555522 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 intron_variant 0.120381 0.15096 0.04865 0.061011 0.414279935141505 0.0643616 3.68783135222941e-07 FALSE 0.000170803 ENSE00001247134_026 ENSE00001247134 026 15 54847580 54847749 + 50 81 39 G A 54847724 1050 145 GCCTCTCTCGATGTATATATAGGAGTATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555525 54555526 54555526 downstr_intron 14 1.36842105263158 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATACTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 1110 4979 0.947090425852408 0.998237088457917 0.972663757155162 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.00575486078299947 0.0369769826505539 0.99505646890974 0.951297835438386 NA 0.0213659217167767 NA FALSE NA 0 -0.959 rs62022211 intron_variant MODIFIER UNC13C HGNC 23149 ENST00000537900 27/30 rs62022211 1 A:0.0589 A:0.0287 A:0.1801 NA A:0.0228 A:0.0567 A:0.0532 A:0.0401 A:0.0524 TGC G,A 0.064 15:54555526 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 intron_variant 0.163898 0.15739 0.01997 0.061011 0.307318870855438 0.0643616 3.68783135222941e-07 FALSE 0.0690643 ENSE00001247134_027 ENSE00001247134 027 15 54847580 54847749 + 50 81 39 T C 54847726 1051 147 GCCTCTCTCGATGTATATATAGGGGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555527 54555528 54555528 downstr_intron 16 1.42105263157895 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCCCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 593 954 0.993655051402787 0.995755682447587 0.994705366925187 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.052319486333378 0.0344955766402247 0.99505646890974 0.951297835438386 NA 0.0434075314868014 NA FALSE NA 0 -0.645 rs62022212 intron_variant MODIFIER UNC13C HGNC 23149 ENST00000537900 27/30 rs62022212 1 C:0.0589 C:0.0287 C:0.1801 NA C:0.0228 C:0.0567 C:0.0532 C:0.0338 C:0.0475 CTC T,C 0.064 15:54555528 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 intron_variant -0.046357 0.15031 0.00323 0.061011 0.300069497991071 0.0643616 3.68783135222941e-07 FALSE 0.0694835 ENSE00001247134_029 ENSE00001247134 029 15 54847580 54847749 + 50 81 39 T A 54847729 1053 150 GCCTCTCTCGATGTATATATTGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555530 54555531 54555531 downstr_intron 19 1.5 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCAATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant NA NA NA NA NA 498 1144 0.994726913611549 0.996262012465815 0.995494463038682 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA 0.0533913485421402 0.0350019066584524 0.99505646890974 0.951297835438386 NA 0.0441966276002963 NA FALSE NA 0.001 0.256 . intron_variant MODIFIER UNC13C HGNC 23149 ENST00000537900 27/30 1 NA CTA T,A 8.289e-06 15:54555531 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 intron_variant 0.341326 0.25525 0.17483 0.061011 0.380506421565583 0.0643616 3.68783135222941e-07 FALSE 1.71491e-05 ENSE00001247134_030 ENSE00001247134 030 15 54847580 54847749 + 50 81 39 A G 54847730 1054 151 GCCTCTCTCGATGTATATACAGGAGCATTATAATCTCACCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCCTGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 54555531 54555532 54555532 downstr_intron 20 1.52631578947368 TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTGTATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC mutant 15 12 1 0.99954180997137 0.999770904985685 NA NA NA NA NA 0.99011293781948 1 0.941335565069409 0.961260105807363 0.00988706218052049 -0.000458190028630234 NA NA 0.99505646890974 0.951297835438386 0.00471443607594513 NA NA NA FALSE 0 0.161 . intron_variant MODIFIER UNC13C HGNC 23149 ENST00000537900 27/30 rs200797296 1 G:0.0010 G:0.0038 G:0 NA G:0 G:0 G:0 G:0.0048 G:0.0001 TAT A,G 0.0005222 15:54555532 UNC13C HGNC Symbol protein_coding 620510 ENSG00000137766 ENSE00001247134 intron_variant -0.021426 0.08338 0.0025 0.061011 0.385050967261003 0.0643616 3.68783135222941e-07 FALSE 0.000466266 ENSE00001247134_BRK ENSE00001247134 BRK 15 54847580 54847749 + 50 81 39 A,G; T,T NA NA NA GCCTCTCTCGATGTATATATAGGAGCATTATAATCTCGGCTTGATGGTAGCCAGGACTACCTCCATTATAGCGCATTGTCTTGGCGTCAGACCCCTGGCATCCTCTCGAATCATGTGCTCAAGGAAAACAGGTGAAGAATTGCTTATAAAACAACCAGTTCATGTATTCA 54555381 54555551 NA NA NA NA NA NA TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCTTGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGCCGAGATTATAATGCTCCTATATATACATCGAGAGAGGC TGAATACATGAACTGGTTGTTTTATAAGCAATTCTTCACCTGTTTTCCAGGAGCACATGATTCGAGAGGATGCCAGGGGTCTGACGCCAAGACAATGCGCTATAATGGAGGTAGTCCTGGCTACCATCAAGGTGAGATTATAATGCTCCTATATATACATCGAGAGAGGC control NA NA NA NA NA 88 1342 0 0.0104446205205794 0.0052223102602897 0.99011293781948 1 0.941335565069409 0.961260105807363 NA NA -0.941335565069409 -0.950815485286783 0.99505646890974 0.951297835438386 NA -0.946075525178096 NA TRUE NA NA NA NA NA NA UNC13C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13C NA NA NA ENSG00000137766 ENSE00001247134 NA NA NA NA NA NA NA 3.68783135222941e-07 FALSE NA ENSE00001252162_000 ENSE00001252162 000 8 41559537 41559706 - 33 93 44 NA NA NA NA NA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 NA NA NA NA NA NA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA natural NA NA NA NA NA 382 88 0.997164850613676 1 0.998582425306838 NA NA 0.997164850613676 1 NA NA 0 0 NA 0.998582425306838 NA 0 NA FALSE NA NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252162 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252162_002 ENSE00001252162 002 8 41559537 41559706 - 33 93 44 G A 41559549 923 158 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGTACCCACCCCAGA 41702018 41702188 41702030 41702031 41702031 downstr_intron 21 1.65625 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGTACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 24 25 1 1 1 NA NA 0.997164850613676 1 NA NA 0.0028351493863239 0 NA 0.998582425306838 NA 0.00141757469316195 NA FALSE NA 0.001 0.035 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 21/42 1 NA TGC G,A 8.236e-06 8:41702031 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 intron_variant 1.053044 0.26043 0.0425 0.166803 0.916420047504154 0.127951 0.999999999957629 TRUE 4.06597e-06 ENSE00001252162_007 ENSE00001252162 007 8 41559537 41559706 - 33 93 44 C T 41559577 928 130 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAATTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702058 41702059 41702059 exon -8 0.924731182795699 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAATTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 1117 659 0.996759754370006 0.99771549108673 0.997237622728368 NA NA 0.997164850613676 1 NA NA -0.0004050962436698 -0.0022845089132697 NA 0.998582425306838 NA -0.00134480257846975 NA FALSE NA 0.199 1.333 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 21/43 1 deleterious(0.02) benign(0.031) NA ACT C,T 2.471e-05 8:41702059 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 missense_variant 1.15955 0.74557 0.12703 0.652421 0.911352455730125 0 0.999999999957629 TRUE 1.62471e-05 ENSE00001252162_010 ENSE00001252162 010 8 41559537 41559706 - 33 93 44 G T 41559594 931 113 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTAGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702075 41702076 41702076 exon -25 0.741935483870968 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTAGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 241 248 0.95784234591164 0.966360212242271 0.962101279076956 NA NA 0.997164850613676 1 NA NA -0.0393225047020361 -0.0336397877577289 NA 0.998582425306838 NA -0.0364811462298825 NA FALSE NA 0 -1.773 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 21/43 1 NA CGA G,T 1.647e-05 8:41702076 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 synonymous_variant 0.640837 0.39146 0.03584 0.652421 0.738831583908624 0 0.999999999957629 TRUE 8.12242e-06 ENSE00001252162_013 ENSE00001252162 013 8 41559537 41559706 - 33 93 44 G A 41559609 934 98 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACTGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702090 41702091 41702091 exon -40 0.580645161290323 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACTGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 76 141 0.978723111224498 0.956088140627627 0.967405625926063 NA NA 0.997164850613676 1 NA NA -0.0184417393891778 -0.0439118593723727 NA 0.998582425306838 NA -0.0311767993807753 NA FALSE NA 0.025 -1.165 rs2304880 synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 21/43 rs2304880 1 A:0.1807 A:0.0159 A:0.2954 NA A:0.0794 A:0.2843 A:0.32 A:0.0567 A:0.2677 CGG G,A 0.254 8:41702091 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 synonymous_variant 0.97847 0.90794 0.07813 0.652421 0.786526916056384 0 0.999999999957629 TRUE 0.260838 ENSE00001252162_015 ENSE00001252162 015 8 41559537 41559706 - 33 93 44 A G 41559629 936 78 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCCTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702110 41702111 41702111 exon 34 0.365591397849462 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCCTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 12 67 1 1 1 NA NA 0.997164850613676 1 NA NA 0.0028351493863239 0 NA 0.998582425306838 NA 0.00141757469316195 NA FALSE NA 0.998 1.172 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 21/43 1 NA AAG A,G 8.236e-06 8:41702111 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 synonymous_variant 0.033917 0.92304 0.33834 0.652421 0.504321712338641 0 0.999999999957629 TRUE 8.12367e-06 ENSE00001252162_017 ENSE00001252162 017 8 41559537 41559706 - 33 93 44 G A 41559632 938 75 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGTGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702113 41702114 41702114 exon 31 0.333333333333333 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGTGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 170 192 1 1 1 NA NA 0.997164850613676 1 NA NA 0.0028351493863239 0 NA 0.998582425306838 NA 0.00141757469316195 NA FALSE NA 1 4.403 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 21/43 1 deleterious(0.01) benign(0.027) NA CGC G,A 8.236e-06 8:41702114 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 missense_variant 4.710939 0.97306 0.87431 0.652421 0.99793388236498 0 0.999999999957629 TRUE 4.06204e-06 ENSE00001252162_019 ENSE00001252162 019 8 41559537 41559706 - 33 93 44 T A 41559657 940 50 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGTACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702138 41702139 41702139 exon 6 0.0645161290322581 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGTACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 410 163 0.99612220494965 0.993146631028378 0.994634417989014 NA NA 0.997164850613676 1 NA NA -0.00104264566402634 -0.00685336897162159 NA 0.998582425306838 NA -0.00394800731782396 NA FALSE NA 1 0.587 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 21/43 1 NA TTC T,A 1.647e-05 8:41702139 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 synonymous_variant 0.270273 0.95288 0.74152 0.652421 0.717957679390588 0 0.999999999957629 TRUE 2.43843e-05 ENSE00001252162_020 ENSE00001252162 020 8 41559537 41559706 - 33 93 44 C T 41559662 941 45 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGAATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702143 41702144 41702144 exon 1 0.010752688172043 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGAATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 41 63 1 1 1 NA NA 0.997164850613676 1 NA NA 0.0028351493863239 0 NA 0.998582425306838 NA 0.00141757469316195 NA FALSE NA 1 1.756 . missense_variant&splice_region_variant MODERATE ANK1 HGNC 492 ENST00000265709 21/43 1 tolerated(1) benign(0) NA TCC C,T 8.236e-06 8:41702144 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 missense_variant 0.499698 0.94994 0.05476 0.652421 0.767426433953916 0 0.999999999957629 TRUE NA ENSE00001252162_021 ENSE00001252162 021 8 41559537 41559706 - 33 93 44 G T 41559666 942 41 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCACAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702147 41702148 41702148 upstr_intron -4 -0.0681818181818182 ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCACAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 49 62 1 1 1 NA NA 0.997164850613676 1 NA NA 0.0028351493863239 0 NA 0.998582425306838 NA 0.00141757469316195 NA FALSE NA 0.001 0.041 . splice_region_variant&intron_variant LOW ANK1 HGNC 492 ENST00000265709 20/42 1 NA GGG G,T 1.647e-05 8:41702148 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 splice_region_variant 0.309547 0.49652 0.09503 0.199473 0.630261406788759 0.154028 0.999999999957629 TRUE 1.62669e-05 ENSE00001252162_024 ENSE00001252162 024 8 41559537 41559706 - 33 93 44 C A 41559680 945 27 ACTCCATCCCCTGTCTGACTGCACCCTGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702161 41702162 41702162 upstr_intron -18 -0.386363636363636 ACTCCATCCCCTGTCTGACTGCACCCTGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 1254 18 0.999176656133832 1 0.999588328066916 NA NA 0.997164850613676 1 NA NA 0.00201180552015556 0 NA 0.998582425306838 NA 0.00100590276007778 NA FALSE NA 0 -0.004 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 20/42 1 NA CCG C,A 4.118e-05 8:41702162 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 intron_variant 0.709886 0.25111 0.00642 0.199473 0.502267626318972 0.082923 0.999999999957629 TRUE 3.26142e-05 ENSE00001252162_027 ENSE00001252162 027 8 41559537 41559706 - 33 93 44 G A 41559685 948 22 ACTCCATCCCCTGTCTGACTGTACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA 41702018 41702188 41702166 41702167 41702167 upstr_intron -23 -0.5 ACTCCATCCCCTGTCTGACTGTACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA ACTCCATCCCCTGTCTGACTGCACCCGGGCTGCTCTTTCCCCAGGATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATTTCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTGGTATGTCTGCCTCTCCCCCGCACCCACCCCAGA mutant NA NA NA NA NA 47 11 0.990901468366384 1 0.995450734183192 NA NA 0.997164850613676 1 NA NA -0.00626338224729217 0 NA 0.998582425306838 NA -0.00313169112364609 NA FALSE NA 0 -0.265 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 20/42 1 NA TGC G,A 8.236e-06 8:41702167 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252162 intron_variant 0.331182 0.25287 0.01989 0.199473 0.504180098572004 0.0829939 0.999999999957629 TRUE NA ENSE00001252199_000 ENSE00001252199 000 8 41574441 41574610 - 30 99 41 NA NA NA NA NA AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 NA NA NA NA NA NA CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT natural 100 132 0.997142550949049 0.986100564537866 0.991621557743458 2778 4406 0.946084251902759 0.967676373956949 0.956880312929854 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 0 0 0 0 0.991621557743458 0.956880312929854 0 0 0 FALSE FALSE NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252199 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252199_001 ENSE00001252199 001 8 41574441 41574610 - 30 99 41 T G 41574452 1002 159 AACCCTTCCCTGCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41716933 41716934 41716934 downstr_intron 19 1.6551724137931 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGCAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 140 1682 0.985504009925858 0.999811901383415 0.992657955654636 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0394197580230988 0.0321355274264655 0.991621557743458 0.956880312929854 NA 0.0357776427247822 NA FALSE NA 0 -2 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 13/42 1 NA TTC T,G 8.236e-06 8:41716934 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 intron_variant 0.058177 0.18539 0.02295 0.056701 0.414286448313298 0.0546727 0.999999999957629 TRUE 4.06144e-06 ENSE00001252199_004 ENSE00001252199 004 8 41574441 41574610 - 30 99 41 T C 41574460 1005 151 AACCCTTCCCTTCCTGCCTCCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41716941 41716942 41716942 downstr_intron 11 1.37931034482759 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGGAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 179 283 0.992986467915138 1 0.996493233957569 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.046902216012379 0.0323236260430507 0.991621557743458 0.956880312929854 NA 0.0396129210277149 NA FALSE NA 0 0.504 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 13/42 1 NA TTC T,C 8.236e-06 8:41716942 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 intron_variant 0.210494 0.24728 0.07362 0.071141 0.539479958816941 0.0538582 0.999999999957629 TRUE 4.06095e-06 ENSE00001252199_005 ENSE00001252199 005 8 41574441 41574610 - 30 99 41 C G 41574476 1006 135 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGGCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41716957 41716958 41716958 exon -6 0.94949494949495 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGCCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 297 261 1 0.9953478753441 0.99767393767205 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0539157480972411 0.0276715013871505 0.991621557743458 0.956880312929854 NA 0.0407936247421958 NA FALSE NA 1 7.757 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 13/43 COSM1700040&COSM1700039 1 deleterious(0) probably_damaging(1) NA GCC C,G 3.295e-05 8:41716958 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 missense_variant 6.954251 0.97711 0.9672 0.695654 0.998321978339306 0 0.999999999957629 TRUE 1.21818e-05 ENSE00001252199_006 ENSE00001252199 006 8 41574441 41574610 - 30 99 41 G A 41574480 1007 131 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTAGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41716961 41716962 41716962 exon -10 0.909090909090909 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCTAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 80 242 1 1 1 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0539157480972411 0.0323236260430507 0.991621557743458 0.956880312929854 NA 0.0431196870701459 NA FALSE NA 1 0.306 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 13/43 1 NA TGG G,A 8.236e-06 8:41716962 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 synonymous_variant 1.341554 0.94697 0.82066 0.695654 0.773512531861301 0 0.999999999957629 TRUE 8.12123e-06 ENSE00001252199_007 ENSE00001252199 007 8 41574441 41574610 - 30 99 41 T C 41574484 1008 127 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCACTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41716965 41716966 41716966 exon -14 0.868686868686869 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAGTGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 178 256 1 1 1 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0539157480972411 0.0323236260430507 0.991621557743458 0.956880312929854 NA 0.0431196870701459 NA FALSE NA 1 7.978 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 13/43 1 deleterious(0) possibly_damaging(0.872) NA ATT T,C 8.236e-06 8:41716966 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 missense_variant 5.547766 0.97017 0.95645 0.695654 0.997657084378597 0 0.999999999957629 TRUE 4.06062e-06 ENSE00001252199_011 ENSE00001252199 011 8 41574441 41574610 - 30 99 41 G A 41574526 1012 85 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCATGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41717007 41717008 41717008 exon 44 0.444444444444444 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACATGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 38 84 1 0.994371261563766 0.997185630781883 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0539157480972411 0.0266948876068165 0.991621557743458 0.956880312929854 NA 0.0403053178520288 NA FALSE NA 0.28 0.524 rs193232101 missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 13/43 rs193232101 1 tolerated(0.17) benign(0.061) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 4.942e-05 8:41717008 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 missense_variant 2.264314 0.29994 0.23177 0.646311 0.975960116716633 0 0.999999999957629 TRUE 7.71511e-05 ENSE00001252199_012 ENSE00001252199 012 8 41574441 41574610 - 30 99 41 C T 41574533 1013 78 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCTGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41717014 41717015 41717015 exon 37 0.373737373737374 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCAGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 43 144 0.984699867835917 0.985904467058643 0.98530216744728 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0386156159331583 0.018228093101694 0.991621557743458 0.956880312929854 NA 0.0284218545174262 NA FALSE NA 1 7.757 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 13/43 rs375056306 1 deleterious(0) probably_damaging(0.994) NA T:0.0002 T:0 CCG C,T 8.236e-06 8:41717015 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 missense_variant 7.529609 0.97735 0.95634 0.695654 0.999444442100733 0 0.999999999957629 TRUE 2.03029e-05 ENSE00001252199_015 ENSE00001252199 015 8 41574441 41574610 - 30 99 41 C G 41574538 1016 73 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTGTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41717019 41717020 41717020 exon 32 0.323232323232323 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCACAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 110 73 0.859828552203059 0.965806677738712 0.912817614970885 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA -0.0862556996997002 -0.00186969621823763 0.991621557743458 0.956880312929854 NA -0.0440626979589689 NA FALSE NA 1 7.757 rs142010751 missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 13/43 rs142010751 1 deleterious(0) probably_damaging(0.997) NA G:0 G:0.0007 TCT C,G 0.0003706 8:41717020 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 missense_variant 6.590972 0.97822 0.96468 0.695654 0.986901258354694 0 0.999999999957629 TRUE 0.000548174 ENSE00001252199_016 ENSE00001252199 016 8 41574441 41574610 - 30 99 41 T C 41574548 1017 63 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCACGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41717029 41717030 41717030 exon 22 0.222222222222222 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACGTGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 173 284 0.999761876402436 1 0.999880938201218 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0536776244996773 0.0323236260430507 0.991621557743458 0.956880312929854 NA 0.043000625271364 NA FALSE NA 1 7.978 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 13/43 1 deleterious(0.05) probably_damaging(0.992) NA ATG T,C 8.236e-06 8:41717030 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 missense_variant 4.054493 0.97158 0.95314 0.646311 0.994164479351403 0 0.999999999957629 TRUE 8.1211e-06 ENSE00001252199_017 ENSE00001252199 017 8 41574441 41574610 - 30 99 41 C T 41574555 1018 56 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGTGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41717036 41717037 41717037 exon 15 0.151515151515152 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCACTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 230 430 0.999641594221685 1 0.999820797110842 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0535573423189259 0.0323236260430507 0.991621557743458 0.956880312929854 NA 0.0429404841809883 NA FALSE NA 0 -3.869 rs28533718 synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 13/43 rs28533718 1 T:0.0409 T:0.1067 T:0.0159 NA T:0.001 T:0.0249 T:0.0276 T:0.0828 T:0.015 GCG C,T 0.025 8:41717037 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 synonymous_variant 1.99356 0.27368 0.06394 0.646311 0.69338837303439 0 0.999999999957629 TRUE 0.0212045 ENSE00001252199_019 ENSE00001252199 019 8 41574441 41574610 - 30 99 41 T C 41574573 1020 38 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTACAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41717054 41717055 41717055 upstr_intron -4 -0.0731707317073171 CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTGTAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 1230 181 0.996094970407633 1 0.998047485203817 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0500107185048745 0.0323236260430507 0.991621557743458 0.956880312929854 NA 0.0411671722739626 NA FALSE NA 0.033 -0.698 . splice_region_variant&intron_variant LOW ANK1 HGNC 492 ENST00000265709 12/42 1 NA ATA T,C 8.236e-06 8:41717055 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 splice_region_variant 0.939105 0.28816 0.11047 0.056701 0.661514411097636 0.142008 0.999999999957629 TRUE 8.12229e-06 ENSE00001252199_020 ENSE00001252199 020 8 41574441 41574610 - 30 99 41 C G 41574581 1021 30 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAAGAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 41717062 41717063 41717063 upstr_intron -12 -0.268292682926829 CAGGCATGTATGAACAGTTCTATAATTTTCTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 127 101 0.994357662935927 0.892712489104661 0.943535076020294 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0482734110331676 -0.0749638848522884 0.991621557743458 0.956880312929854 NA -0.0133452369095604 NA FALSE NA 0.03 0.14 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 12/42 rs577922858 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 ACA C,G 3.295e-05 8:41717063 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 intron_variant 0.631711 0.24732 0.14762 0.056701 0.611149454202519 0.0450783 0.999999999957629 TRUE 2.03084e-05 ENSE00001252199_022 ENSE00001252199 022 8 41574441 41574610 - 30 99 41 C A 41574599 1023 12 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTAATACATGCCTG 41716922 41717092 41717080 41717081 41717081 upstr_intron -30 -0.707317073170732 CAGGCATGTATTAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 294 543 0.983991600371901 0.879909050775528 0.931950325573714 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.037907348469142 -0.0877673231814214 0.991621557743458 0.956880312929854 NA -0.0249299873561397 NA FALSE NA 0 -0.553 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 12/42 rs368470352 1 NA A:0 A:0.0001 TCA C,A 8.236e-06 8:41717081 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 intron_variant 0.298123 0.12734 0.00691 0.056701 0.726758171586285 0.0456202 0.999999999957629 TRUE 4.06722e-06 ENSE00001252199_023 ENSE00001252199 023 8 41574441 41574610 - 30 99 41 A G 41574600 1024 11 AACCCTTCCCTTCCTGCCTTCACTACTCACCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTCTATAAAATAACAAAATTATAGAACTGTTCGTACATGCCTG 41716922 41717092 41717081 41717082 41717082 upstr_intron -31 -0.731707317073171 CAGGCATGTACGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT mutant NA NA NA NA NA 196 176 0.983357461749775 1 0.991678730874888 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 NA NA 0.0372732098470161 0.0323236260430507 0.991621557743458 0.956880312929854 NA 0.0347984179450334 NA FALSE NA 0 0.416 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 12/42 rs533837544 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAT A,G 8.236e-06 8:41717082 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252199 intron_variant 0.423602 0.22648 0.07492 0.056701 0.589411879788093 0.0456202 0.999999999957629 TRUE 1.22034e-05 ENSE00001252199_BRK ENSE00001252199 BRK 8 41574441 41574610 - 30 99 41 A,G; T,T NA NA NA AACCCTTCCCTTCCTGCCTTCACTACTCGGCTTGGCCTTGGCATTGACTTTGGCTTTGTTCTGGAGTAAATATTTGGCCACTTCCGTGTGCCCGGCTCTGGCTGCCATGTGTAGCGGGGTCTCCACTTTAAATAAAATAACAAAATTATAGAACTGTTCATACATGCCTG 41716922 41717092 NA NA NA NA NA NA CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATTTAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGCCGAGTAGTGAAGGCAGGAAGGGAAGGGTT CAGGCATGTATGAACAGTTCTATAATTTTGTTATTTTATAGAAAGTGGAGACCCCGCTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAAGCCAAAGTCAATGCCAAGGCCAAGGTGAGTAGTGAAGGCAGGAAGGGAAGGGTT control 695 732 0.0557426518564167 0 0.0278713259282084 25 45 0 0 0 0.997142550949049 0.986100564537866 0.946084251902759 0.967676373956949 -0.941399899092632 -0.986100564537866 -0.946084251902759 -0.967676373956949 0.991621557743458 0.956880312929854 -0.963750231815249 -0.956880312929854 0.00686991888539523 TRUE TRUE NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252199 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252205_000 ENSE00001252205 000 8 41575092 41575261 - 30 99 41 NA NA NA NA NA AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC 41717573 41717743 NA NA NA NA NA NA AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC natural NA NA NA NA NA 284 650 0.95347892896435 0.957905216351796 0.955692072658073 NA NA 0.95347892896435 0.957905216351796 NA NA 0 0 NA 0.955692072658073 NA 0 NA FALSE NA NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252205 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252205_003 ENSE00001252205 003 8 41575092 41575261 - 30 99 41 C T 41575140 1027 122 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCACCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC 41717573 41717743 41717621 41717622 41717622 exon -19 0.818181818181818 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCACCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC mutant NA NA NA NA NA 150 99 0.996094535420037 0.998399125770752 0.997246830595395 NA NA 0.95347892896435 0.957905216351796 NA NA 0.0426156064556872 0.0404939094189561 NA 0.955692072658073 NA 0.0415547579373217 NA FALSE NA 0 -3.967 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 12/43 rs374936338 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 GCG C,T 7.704e-05 8:41717622 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252205 synonymous_variant 2.322683 0.15814 0.04989 0.614807 0.651807831417127 0 0.999999999957629 TRUE 6.73174e-05 ENSE00001252205_007 ENSE00001252205 007 8 41575092 41575261 - 30 99 41 T A 41575162 1031 100 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGATCCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC 41717573 41717743 41717643 41717644 41717644 exon -41 0.595959595959596 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGATCCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC mutant NA NA NA NA NA 28 118 0.959312302002127 0.972817103871522 0.966064702936825 NA NA 0.95347892896435 0.957905216351796 NA NA 0.00583337303777787 0.0149118875197261 NA 0.955692072658073 NA 0.010372630278752 NA FALSE NA 0.996 0.217 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 12/43 1 tolerated(0.43) benign(0.021) NA GTT T,A 1.686e-05 8:41717644 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252205 missense_variant 1.340635 0.73186 0.48873 0.614807 0.919651391877546 0 0.999999999957629 TRUE 1.34293e-05 ENSE00001252205_008 ENSE00001252205 008 8 41575092 41575261 - 30 99 41 G A 41575170 1032 92 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATTGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC 41717573 41717743 41717651 41717652 41717652 exon -49 0.515151515151515 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATTGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC mutant NA NA NA NA NA 75 482 1 0.867903400196051 0.933951700098025 NA NA 0.95347892896435 0.957905216351796 NA NA 0.0465210710356504 -0.0900018161557457 NA 0.955692072658073 NA -0.0217403725600476 NA FALSE NA 0.001 -1.207 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:41717652 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252205 synonymous_variant 2.186224 0.8517 0.17636 0.614807 0.86426706657621 0 0.999999999957629 TRUE 0.000228274 ENSE00001252205_009 ENSE00001252205 009 8 41575092 41575261 - 30 99 41 G C 41575170 1033 92 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATGGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC 41717573 41717743 41717651 41717652 41717652 exon -49 0.515151515151515 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATGGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC mutant NA NA NA NA NA 315 174 1 1 1 NA NA 0.95347892896435 0.957905216351796 NA NA 0.0465210710356504 0.0420947836482038 NA 0.955692072658073 NA 0.0443079273419271 NA FALSE NA 0.001 -1.207 NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252205 missense_variant 4.725608 0.86077 0.29 0.614807 0.995297710823743 0 0.999999999957629 TRUE 0 ENSE00001252205_014 ENSE00001252205 014 8 41575092 41575261 - 30 99 41 A G 41575226 1038 36 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGCTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC 41717573 41717743 41717707 41717708 41717708 upstr_intron -6 -0.121951219512195 AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGCTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC mutant NA NA NA NA NA 111 184 0.00442666121183108 0.00174318031110695 0.00308492076146902 NA NA 0.95347892896435 0.957905216351796 NA NA -0.949052267752518 -0.956162036040689 NA 0.955692072658073 NA -0.952607151896604 NA TRUE NA 0.941 1.877 . splice_region_variant&intron_variant LOW ANK1 HGNC 492 ENST00000265709 11/42 rs541269643 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAC A,G 2.155e-05 8:41717708 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252205 splice_region_variant 0.060908 0.34376 0.26097 0.095506 0.715603389763102 0.206906 0.999999999957629 TRUE 2.69038e-05 ENSE00001252205_017 ENSE00001252205 017 8 41575092 41575261 - 30 99 41 C A 41575243 1041 19 AAAGACTCCCACTTATCGTACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC 41717573 41717743 41717724 41717725 41717725 upstr_intron -23 -0.536585365853659 AAAGACTCCCACTTATCGTACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC mutant NA NA NA NA NA 122 180 1 0.988919634649752 0.994459817324876 NA NA 0.95347892896435 0.957905216351796 NA NA 0.0465210710356504 0.0310144182979555 NA 0.955692072658073 NA 0.0387677446668029 NA FALSE NA 0.003 1.646 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 11/42 rs376642725 1 NA A:0 A:0.0006 TCC C,A 0.000145 8:41717725 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252205 intron_variant 0.036121 0.23053 0.0295 0.095506 0.529586614121469 0.0511792 0.999999999957629 TRUE 0.00022942 ENSE00001252205_BRK ENSE00001252205 BRK 8 41575092 41575261 - 30 99 41 A,G; T,T NA NA NA AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCTTTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGCCAAGCCCTCAGGCAGGCAGGGGCTTGCTC 41717573 41717743 NA NA NA NA NA NA AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCTTTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGCCAAGCCCTCAGGCAGGCAGGGGCTTGCTC AAAGACTCCCACTTATCGGACTCTGCCTTTGTCTGTTTCAGTCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTGAAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTGGTAAGCCCTCAGGCAGGCAGGGGCTTGCTC control 102 97 0 0.00671936033857517 0.00335968016928759 32 24 0 0 0 NA NA 0.95347892896435 0.957905216351796 NA NA -0.95347892896435 -0.957905216351796 NA 0.955692072658073 NA -0.955692072658073 NA TRUE NA NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252205 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252214_000 ENSE00001252214 000 8 41575594 41575763 - 30 99 41 NA NA NA NA NA GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC 41718075 41718245 NA NA NA NA NA NA GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC natural NA NA NA NA NA 49 25 0.94591887027943 1 0.972959435139715 NA NA 0.94591887027943 1 NA NA 0 0 NA 0.972959435139715 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252214 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252214_005 ENSE00001252214 005 8 41575594 41575763 - 30 99 41 C G 41575633 1049 131 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCCGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC 41718075 41718245 41718114 41718115 41718115 exon -10 0.909090909090909 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCCGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC mutant NA NA NA NA NA 200 118 0.99792397139491 1 0.998961985697455 NA NA 0.94591887027943 1 NA NA 0.0520051011154805 0 NA 0.972959435139715 NA 0.0260025505577403 NA FALSE NA 0 -7.833 NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:41718115 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252214 synonymous_variant 0.872139 0.08981 0.02212 0.713056 0.733735156220089 0 0.999999999957629 TRUE 8.13339e-06 ENSE00001252214_007 ENSE00001252214 007 8 41575594 41575763 - 30 99 41 G A 41575634 1051 130 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGTGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC 41718075 41718245 41718115 41718116 41718116 exon -11 0.898989898989899 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGTGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC mutant NA NA NA NA NA 342 17 0.863474756168809 1 0.931737378084404 NA NA 0.94591887027943 1 NA NA -0.0824441141106211 0 NA 0.972959435139715 NA -0.0412220570553106 NA FALSE NA 1 8.004 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 11/43 COSM366692 1 deleterious(0) probably_damaging(1) NA CGC G,A 4.942e-05 8:41718116 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252214 missense_variant 6.071373 0.97721 0.93114 0.713056 0.99925833613843 0 0.999999999957629 TRUE 4.06613e-05 ENSE00001252214_008 ENSE00001252214 008 8 41575594 41575763 - 30 99 41 C T 41575635 1052 129 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACACGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC 41718075 41718245 41718116 41718117 41718117 exon -12 0.888888888888889 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACACGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC mutant NA NA NA NA NA 52 12 0.8 0.8 0.8 NA NA 0.94591887027943 1 NA NA -0.14591887027943 -0.2 NA 0.972959435139715 NA -0.172959435139715 NA FALSE NA 1 7.799 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 11/43 rs376581087&COSM1457110&COSM1457109 1 deleterious(0) probably_damaging(1) NA T:0.0002 T:0 GCG C,T 3.295e-05 8:41718117 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252214 missense_variant 6.466699 0.97677 0.93868 0.713056 0.998699982041218 0 0.999999999957629 TRUE 2.43946e-05 ENSE00001252214_009 ENSE00001252214 009 8 41575594 41575763 - 30 99 41 G A 41575636 1053 128 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGATGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC 41718075 41718245 41718117 41718118 41718118 exon -13 0.878787878787879 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGATGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC mutant NA NA NA NA NA 40 157 0.823904098847322 0.916005998629662 0.869955048738492 NA NA 0.94591887027943 1 NA NA -0.122014771432108 -0.0839940013703375 NA 0.972959435139715 NA -0.103004386401223 NA FALSE NA 0.005 -1.175 rs148471199 synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 11/43 rs148471199 1 NA A:0 A:0.0005 CGT G,A 0.0001894 8:41718118 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252214 synonymous_variant 0.227538 0.83725 0.12468 0.713056 0.896157525141724 0 0.999999999957629 TRUE 0.000178895 ENSE00001252214_011 ENSE00001252214 011 8 41575594 41575763 - 30 99 41 G A 41575639 1055 125 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATTGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC 41718075 41718245 41718120 41718121 41718121 exon -16 0.848484848484849 GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATTGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC mutant NA NA NA NA NA 146 76 0.8 0.844425412525007 0.822212706262504 NA NA 0.94591887027943 1 NA NA -0.14591887027943 -0.155574587474993 NA 0.972959435139715 NA -0.150746728877211 NA FALSE NA 0 -2.773 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:41718121 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252214 synonymous_variant 0.689618 0.19536 0.04458 0.713056 0.902086897546382 0 0.999999999957629 TRUE 8.12988e-06 ENSE00001252214_BRK ENSE00001252214 BRK 8 41575594 41575763 - 30 99 41 A,G; T,T NA NA NA GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCTTAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGCCAGGAGAGACTGCAGAGGAGCCTGGGGGC 41718075 41718245 NA NA NA NA NA NA GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCTTAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGCCAGGAGAGACTGCAGAGGAGCCTGGGGGC GTAAGCTCCTGCTTGTCTGTCTCCCTTTGTGTGGGCTGCAGAATGGCTTTACCCCCTTACACATCGCCTGCAAAAAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTCACCGAGGTAGGAGAGACTGCAGAGGAGCCTGGGGGC control 42 10 0 0 0 NA NA NA NA NA NA NA 0.94591887027943 1 NA NA NA NA NA 0.972959435139715 NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252214 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252233_000 ENSE00001252233 000 8 41580613 41580782 - 30 99 41 NA NA NA NA NA CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 NA NA NA NA NA NA CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT natural 68 62 0.965941852101726 0.943230740491578 0.954586296296652 3447 2792 0.975387233546549 0.866335630166073 0.920861431856311 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 0 0 0 0 0.954586296296652 0.920861431856311 0 0 0 FALSE FALSE NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252233 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252233_001 ENSE00001252233 001 8 41580613 41580782 - 30 99 41 G A 41580631 1078 152 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCTTTCCTGTCAGGCGCATTT 41723094 41723264 41723112 41723113 41723113 downstr_intron 12 1.41379310344828 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCTTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 423 566 0.990943205834414 1 0.995471602917207 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0155559722878648 0.133664369833927 0.954586296296652 0.920861431856311 NA 0.074610171060896 NA FALSE NA 0.174 0.271 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 9/42 1 NA AGG G,A 1.647e-05 8:41723113 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 intron_variant 0.11847 0.23299 0.11848 0.056701 0.732142616414886 0.10847 0.999999999957629 TRUE 8.12183e-06 ENSE00001252233_002 ENSE00001252233 002 8 41580613 41580782 - 30 99 41 G T 41580632 1079 151 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTACTTCCTGTCAGGCGCATTT 41723094 41723264 41723113 41723114 41723114 downstr_intron 11 1.37931034482759 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTACTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 59 650 1 0.999941429785263 0.999970714892631 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0246127664534506 0.13360579961919 0.954586296296652 0.920861431856311 NA 0.0791092830363203 NA FALSE NA 0.406 1.652 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 9/42 1 NA GGA G,T 1.647e-05 8:41723114 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 intron_variant 0.036632 0.38275 0.26469 0.056701 0.606391041456414 0.10847 0.999999999957629 TRUE 8.12163e-06 ENSE00001252233_003 ENSE00001252233 003 8 41580613 41580782 - 30 99 41 A G 41580634 1080 149 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACCTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723115 41723116 41723116 downstr_intron 9 1.31034482758621 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACCTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 660 842 0.999767739689596 0.923520600993372 0.961644170341484 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0243805061430469 0.0571849708272997 0.954586296296652 0.920861431856311 NA 0.0407827384851733 NA FALSE NA 0.034 -1.089 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 9/42 1 NA AAG A,G 3.295e-05 8:41723116 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 intron_variant 0.055834 0.30443 0.0173 0.056701 0.557472605829682 0.120668 0.999999999957629 TRUE 2.03041e-05 ENSE00001252233_004 ENSE00001252233 004 8 41580613 41580782 - 30 99 41 T C 41580636 1081 147 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTGCTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723117 41723118 41723118 downstr_intron 7 1.24137931034483 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTGCTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 610 263 0.995955853864117 1 0.997977926932059 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0205686203175679 0.133664369833927 0.954586296296652 0.920861431856311 NA 0.0771164950757476 NA FALSE NA 0.383 -0.106 rs17661203 splice_region_variant&intron_variant LOW ANK1 HGNC 492 ENST00000265709 9/42 rs17661203 1 C:0.0226 C:0.0113 C:0.0504 NA C:0.001 C:0.0537 C:0.0082 C:0.0197 C:0.0541 GTA C,C 0.045 8:41723118 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 splice_region_variant 0.17867 0.58914 0.0245 0.056701 0.444853753356415 0.120668 0.999999999957629 TRUE 0.0459249 ENSE00001252233_005 ENSE00001252233 005 8 41580613 41580782 - 30 99 41 C T 41580640 1082 143 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTATGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723121 41723122 41723122 downstr_intron 3 1.10344827586207 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTATGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 822 357 0.98807592167443 1 0.994037960837215 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0126886881278809 0.133664369833927 0.954586296296652 0.920861431856311 NA 0.0731765289809041 NA FALSE NA 0.138 0.458 . splice_region_variant&intron_variant LOW ANK1 HGNC 492 ENST00000265709 9/42 1 NA ACA C,T 8.236e-06 8:41723122 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 splice_region_variant 0.884054 0.52776 0.09765 0.056701 0.732473028872713 0.0980795 0.999999999957629 TRUE 4.06081e-06 ENSE00001252233_006 ENSE00001252233 006 8 41580613 41580782 - 30 99 41 C T 41580669 1083 114 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACAGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723150 41723151 41723151 exon -27 0.737373737373737 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACAGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 831 1508 1 0.999265160899365 0.999632580449683 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0246127664534506 0.132929530733293 0.954586296296652 0.920861431856311 NA 0.0787711485933715 NA FALSE NA 1 6.072 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 9/43 COSM605688&COSM1145071 1 deleterious(0) probably_damaging(1) NA CCG C,T 4.118e-05 8:41723151 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 missense_variant 7.269565 0.96323 0.93151 0.695654 0.999398854909077 0 0.999999999957629 TRUE 2.43645e-05 ENSE00001252233_007 ENSE00001252233 007 8 41580613 41580782 - 30 99 41 G A 41580670 1084 113 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCATGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723151 41723152 41723152 exon -28 0.727272727272727 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCATGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 232 500 0.996944849912288 0.994953020987121 0.995948935449704 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0215576163657384 0.128617390821048 0.954586296296652 0.920861431856311 NA 0.0750875035933932 NA FALSE NA 0.002 -1.384 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 9/43 1 NA CGT G,A 8.236e-06 8:41723152 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 synonymous_variant 1.014515 0.89483 0.20799 0.695654 0.701526500133511 0 0.999999999957629 TRUE 8.1215e-06 ENSE00001252233_009 ENSE00001252233 009 8 41580613 41580782 - 30 99 41 T C 41580688 1086 95 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCGGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723169 41723170 41723170 exon -46 0.545454545454545 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCGGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 681 699 0.91389273799507 0.996721682211985 0.955307210103528 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA -0.0614944955514792 0.130386052045913 0.954586296296652 0.920861431856311 NA 0.0344457782472167 NA FALSE NA 0.773 -0.357 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 9/43 1 NA CTG T,C 8.236e-06 8:41723170 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 synonymous_variant 0.595468 0.89217 0.46792 0.695654 0.618487623466823 0 0.999999999957629 TRUE 4.06068e-06 ENSE00001252233_011 ENSE00001252233 011 8 41580613 41580782 - 30 99 41 C T 41580695 1088 88 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCAAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723176 41723177 41723177 exon 47 0.474747474747475 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCAAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 2328 687 0.978274347847796 0.812377087750414 0.895325717799105 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.00288711430124644 -0.0539585424156592 0.954586296296652 0.920861431856311 NA -0.0255357140572064 NA FALSE NA 0.999 3.38 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 9/43 rs527509245&COSM1700042&COSM1700041 1 tolerated(1) possibly_damaging(0.899) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 9.884e-05 8:41723177 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 missense_variant 4.580931 0.95334 0.85217 0.695654 0.997464801074774 0 0.999999999957629 TRUE 6.90322e-05 ENSE00001252233_012 ENSE00001252233 012 8 41580613 41580782 - 30 99 41 C T 41580699 1089 84 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACATGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723180 41723181 41723181 exon 43 0.434343434343434 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACATGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 327 618 1 0.986499662124826 0.993249831062413 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0246127664534506 0.120164031958754 0.954586296296652 0.920861431856311 NA 0.0723883992061021 NA FALSE NA 1 3.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:41723181 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 missense_variant 3.925721 0.95348 0.87877 0.695654 0.997565147312559 0 0.999999999957629 TRUE 2.43641e-05 ENSE00001252233_013 ENSE00001252233 013 8 41580613 41580782 - 30 99 41 C A 41580699 1090 84 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACTTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723180 41723181 41723181 exon 43 0.434343434343434 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACTTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 410 254 0.827229049936851 1 0.913614524968426 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA -0.148158183609698 0.133664369833927 0.954586296296652 0.920861431856311 NA -0.00724690688788537 NA FALSE NA 1 3.32 NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252233 missense_variant 3.517216 0.95373 0.88863 0.695654 0.990994225692658 0 0.999999999957629 TRUE 4.06068e-06 ENSE00001252233_014 ENSE00001252233 014 8 41580613 41580782 - 30 99 41 G A 41580700 1091 83 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCATGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723181 41723182 41723182 exon 42 0.424242424242424 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCATGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 328 1416 1 0.997654624400556 0.998827312200278 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0246127664534506 0.131318994234483 0.954586296296652 0.920861431856311 NA 0.077965880343967 NA FALSE NA 0.999 0.828 rs145901219 synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 9/43 rs145901219&COSM212618 1 NA A:0.0002 A:0 CGT G,A 1.647e-05 8:41723182 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 synonymous_variant 1.334768 0.90712 0.61164 0.695654 0.690755486607708 0 0.999999999957629 TRUE 1.21819e-05 ENSE00001252233_015 ENSE00001252233 015 8 41580613 41580782 - 30 99 41 T C 41580701 1092 82 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCGCGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723182 41723183 41723183 exon 41 0.414141414141414 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCGCGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 2538 589 0.996796921053797 0.967725264146486 0.982261092600142 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.021409687507248 0.101389633980413 0.954586296296652 0.920861431856311 NA 0.0613996607438307 NA FALSE NA 1 8.042 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 9/43 1 deleterious(0) probably_damaging(0.998) NA GTG T,C 8.236e-06 8:41723183 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 missense_variant 5.202304 0.96837 0.9544 0.695654 0.998361070712461 0 0.999999999957629 TRUE NA ENSE00001252233_016 ENSE00001252233 016 8 41580613 41580782 - 30 99 41 C T 41580703 1093 80 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGACACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723184 41723185 41723185 exon 39 0.393939393939394 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGACACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 363 1174 0.999886574879191 0.998358485795536 0.999122530337364 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.024499341332642 0.132022855629463 0.954586296296652 0.920861431856311 NA 0.0782610984810526 NA FALSE NA 0.793 -0.17 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 9/43 1 NA GCC C,T 8.236e-06 8:41723185 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 synonymous_variant 1.77445 0.91226 0.51205 0.695654 0.671709401841312 0 0.999999999957629 TRUE 8.12137e-06 ENSE00001252233_017 ENSE00001252233 017 8 41580613 41580782 - 30 99 41 A G 41580706 1094 77 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAACGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723187 41723188 41723188 exon 36 0.363636363636364 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAACGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 403 1482 0.996685683890671 0.996296414938777 0.996491049414724 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0212984503441219 0.129960784772704 0.954586296296652 0.920861431856311 NA 0.0756296175584129 NA FALSE NA 0.994 0.386 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 9/43 1 NA CAT A,G 1.647e-05 8:41723188 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 synonymous_variant 0.390346 0.91178 0.7091 0.695654 0.540507175548719 0 0.999999999957629 TRUE 8.1215e-06 ENSE00001252233_018 ENSE00001252233 018 8 41580613 41580782 - 30 99 41 C T 41580710 1095 73 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCAAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723191 41723192 41723192 exon 32 0.323232323232323 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCAAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 430 1181 0.812023718962523 0.998524077528544 0.905273898245533 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA -0.163363514584027 0.132188447362471 0.954586296296652 0.920861431856311 NA -0.0155875336107777 NA FALSE NA 1 7.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:41723192 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 missense_variant 7.768675 0.97473 0.95745 0.695654 0.999616232701962 0 0.999999999957629 TRUE 8.12156e-06 ENSE00001252233_019 ENSE00001252233 019 8 41580613 41580782 - 30 99 41 C A 41580710 1096 73 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCTAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723191 41723192 41723192 exon 32 0.323232323232323 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCTAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 1296 104 0.996401111917307 0.998476246039539 0.997438678978423 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0210138783707579 0.132140615873467 0.954586296296652 0.920861431856311 NA 0.0765772471221122 NA FALSE NA 1 7.82 NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252233 missense_variant 7.727599 0.97545 0.9641 0.695654 0.998853689123075 0 0.999999999957629 TRUE 4.06078e-06 ENSE00001252233_020 ENSE00001252233 020 8 41580613 41580782 - 30 99 41 C G 41580719 1097 64 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTCTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723200 41723201 41723201 exon 23 0.232323232323232 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTCTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 260 327 0.987384890514535 1 0.993692445257268 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0119976569679857 0.133664369833927 0.954586296296652 0.920861431856311 NA 0.0728310134009565 NA FALSE NA 1 7.82 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 9/43 1 deleterious(0) probably_damaging(0.999) NA ACA C,G 8.236e-06 8:41723201 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 missense_variant 6.228646 0.97572 0.96562 0.695654 0.995848333484318 0 0.999999999957629 TRUE 4.06065e-06 ENSE00001252233_021 ENSE00001252233 021 8 41580613 41580782 - 30 99 41 G A 41580731 1098 52 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGATACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723212 41723213 41723213 exon 11 0.111111111111111 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGATACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 819 2347 0.998635339355669 0.999365094171792 0.99900021676373 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0232481058091198 0.133029464005719 0.954586296296652 0.920861431856311 NA 0.0781387849074194 NA FALSE NA 1 9.791 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 9/43 1 deleterious(0) probably_damaging(1) NA TGT G,A 8.236e-06 8:41723213 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 missense_variant 6.587342 0.97519 0.98839 0.695654 0.998917825801424 0 0.999999999957629 TRUE 4.06078e-06 ENSE00001252233_023 ENSE00001252233 023 8 41580613 41580782 - 30 99 41 G A 41580739 1100 44 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGATGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723220 41723221 41723221 exon 3 0.0303030303030303 CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGATGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 377 404 0.984027112562595 0.999905744644598 0.991966428603596 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.00863987901604546 0.133570114478525 0.954586296296652 0.920861431856311 NA 0.0711049967472853 NA FALSE NA 0.606 0.03 . splice_region_variant&synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 9/43 rs547157814 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGT G,A 4.118e-05 8:41723221 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 splice_region_variant 1.378117 0.90059 0.10366 0.695654 0.817276244232762 0 0.999999999957629 TRUE 4.06095e-05 ENSE00001252233_024 ENSE00001252233 024 8 41580613 41580782 - 30 99 41 A G 41580753 1101 30 CTGCCTTTTGGGCTTTCTGTTTTTGACTCCGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723234 41723235 41723235 upstr_intron -12 -0.268292682926829 CTGCCTTTTGGGCTTTCTGTTTTTGACTCCGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 333 612 0.958894035683217 0.975109312042326 0.967001673862772 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA -0.0164931978633327 0.108773681876254 0.954586296296652 0.920861431856311 NA 0.0461402420064605 NA FALSE NA 0.227 2.488 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 8/42 1 NA CAG A,G 8.236e-06 8:41723235 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 intron_variant 1.907961 0.82281 0.78639 0.056701 0.797376880530745 0.319532 0.999999999957629 TRUE 4.06128e-06 ENSE00001252233_025 ENSE00001252233 025 8 41580613 41580782 - 30 99 41 C T 41580758 1102 25 CTGCCTTTTGGGCTTTCTGTTTTTAACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723239 41723240 41723240 upstr_intron -17 -0.390243902439024 CTGCCTTTTGGGCTTTCTGTTTTTAACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 1137 616 0.741227864083057 0.757454266040013 0.749341065061535 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA -0.234159369463492 -0.10888136412606 0.954586296296652 0.920861431856311 NA -0.171520366794776 NA FALSE NA 0.002 -0.108 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 8/42 1 NA TCA C,T 8.236e-06 8:41723240 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 intron_variant 1.613931 0.24637 0.08328 0.056701 0.779828669364908 0.142008 0.999999999957629 TRUE 4.0619e-06 ENSE00001252233_026 ENSE00001252233 026 8 41580613 41580782 - 30 99 41 A C 41580760 1103 23 CTGCCTTTTGGGCTTTCTGTTTGTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT 41723094 41723264 41723241 41723242 41723242 upstr_intron -19 -0.439024390243902 CTGCCTTTTGGGCTTTCTGTTTGTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT CTGCCTTTTGGGCTTTCTGTTTTTGACTCTGTCTTTTAAAGGACGAATTGACACCTCTCCACTGTGCAGCTCGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCCAAAACCAAGGTGTGTACTTCCTTCCTGTCAGGCGCATTT mutant NA NA NA NA NA 801 2139 1 0.985114575541754 0.992557287770877 0.965941852101726 0.943230740491578 0.975387233546549 0.866335630166073 NA NA 0.0246127664534506 0.118778945375681 0.954586296296652 0.920861431856311 NA 0.071695855914566 NA FALSE NA 0.025 1.244 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 8/42 1 NA AAA A,C 8.236e-06 8:41723242 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252233 intron_variant 1.324415 0.24962 0.49832 0.056701 0.775174969838256 0.221816 0.999999999957629 TRUE 4.06167e-06 ENSE00001252268_000 ENSE00001252268 000 8 41584738 41584907 - 30 99 41 NA NA NA NA NA GTGGTGACGACATTTTTCCAAGGTACTTACTTCTGTGGCTACATTCTGGTTAGCTCCATTTTCCAGTAAAAACTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGTACAGGGGTGTAAAACCTTTCTGTAAACCAAGAGAGGACATCATTAGCATCCACCCGCAAT 41727219 41727389 NA NA NA NA NA NA ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC natural 28 27 1 0.997441063602373 0.998720531801186 1904 1572 0.942710880626011 0.992202167744031 0.967456524185021 1 0.997441063602373 0.942710880626011 0.992202167744031 0 0 0 0 0.998720531801186 0.967456524185021 0 0 0 FALSE FALSE NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252268 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252268_002 ENSE00001252268 002 8 41584738 41584907 - 30 99 41 G A 41584786 1131 122 GTGGTGACGACATTTTTCCAAGGTACTTACTTCTGTGGCTACATTCTGATTAGCTCCATTTTCCAGTAAAAACTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGTACAGGGGTGTAAAACCTTTCTGTAAACCAAGAGAGGACATCATTAGCATCCACCCGCAAT 41727219 41727389 41727267 41727268 41727268 exon -19 0.818181818181818 ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAATCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC mutant NA NA NA NA NA 95 1692 1 0.998831197150641 0.99941559857532 1 0.997441063602373 0.942710880626011 0.992202167744031 NA NA 0.0572891193739886 0.00662902940660925 0.998720531801186 0.967456524185021 NA 0.0319590743902989 NA FALSE NA 1 0.955 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 5/43 1 NA GGT G,A 1.647e-05 8:41727268 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252268 synonymous_variant 0.717795 0.89762 0.36494 0.446893 0.620504641403905 0 0.999999999957629 TRUE 2.03049e-05 ENSE00001252268_003 ENSE00001252268 003 8 41584738 41584907 - 30 99 41 G A 41584803 1132 105 GTGGTGACGACATTTTTCCAAGGTACTTACTTCTGTGGCTACATTCTGGTTAGCTCCATTTTCCAATAAAAACTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGTACAGGGGTGTAAAACCTTTCTGTAAACCAAGAGAGGACATCATTAGCATCCACCCGCAAT 41727219 41727389 41727284 41727285 41727285 exon -36 0.646464646464647 ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTATTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC mutant NA NA NA NA NA 517 333 0.994458225726723 0.993950182278202 0.994204204002463 1 0.997441063602373 0.942710880626011 0.992202167744031 NA NA 0.051747345100712 0.00174801453417039 0.998720531801186 0.967456524185021 NA 0.0267476798174412 NA FALSE NA 1 6.606 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 5/43 1 NA AGT G,A 8.236e-06 8:41727285 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252268 synonymous_variant 1.228642 0.96098 0.96548 0.446893 0.782951279031941 0 0.999999999957629 TRUE 8.12156e-06 ENSE00001252268_004 ENSE00001252268 004 8 41584738 41584907 - 30 99 41 C T 41584810 1133 98 GTGGTGACGACATTTTTCCAAGGTACTTACTTCTGTGGCTACATTCTGGTTAGCTCCATTTTCCAGTAAAAATTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGTACAGGGGTGTAAAACCTTTCTGTAAACCAAGAGAGGACATCATTAGCATCCACCCGCAAT 41727219 41727389 41727291 41727292 41727292 exon -43 0.575757575757576 ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAATTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC mutant NA NA NA NA NA 495 553 1 1 1 1 0.997441063602373 0.942710880626011 0.992202167744031 NA NA 0.0572891193739886 0.00779783225596853 0.998720531801186 0.967456524185021 NA 0.0325434758149786 NA FALSE NA 1 0.466 . synonymous_variant LOW ANK1 HGNC 492 ENST00000265709 5/43 1 NA ACT C,T 7.413e-05 8:41727292 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252268 synonymous_variant 2.191276 0.92287 0.84276 0.446893 0.722966856028576 0 0.999999999957629 TRUE 6.49709e-05 ENSE00001252268_005 ENSE00001252268 005 8 41584738 41584907 - 30 99 41 T C 41584847 1134 61 GTGGTGACGACATTTTTCCAAGGTACTTACTTCTGTGGCTACATTCTGGTTAGCTCCATTTTCCAGTAAAAACTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGCACAGGGGTGTAAAACCTTTCTGTAAACCAAGAGAGGACATCATTAGCATCCACCCGCAAT 41727219 41727389 41727328 41727329 41727329 exon 20 0.202020202020202 ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTGCATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC mutant NA NA NA NA NA 1392 44 0.996430875929157 1 0.998215437964578 1 0.997441063602373 0.942710880626011 0.992202167744031 NA NA 0.0537199953031454 0.00779783225596853 0.998720531801186 0.967456524185021 NA 0.030758913779557 NA FALSE NA 1 7.979 . missense_variant MODERATE ANK1 HGNC 492 ENST00000265709 5/43 1 deleterious(0) probably_damaging(1) NA GTA T,C 8.236e-06 8:41727329 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252268 missense_variant 6.044495 0.97766 0.98702 0.549168 0.997340845524647 0 0.999999999957629 TRUE 4.06105e-06 ENSE00001252268_006 ENSE00001252268 006 8 41584738 41584907 - 30 99 41 A T 41584877 1135 31 GTGGTGACGACATTTTTCCAAGGTACTTACTTCTGTGGCTACATTCTGGTTAGCTCCATTTTCCAGTAAAAACTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGTACAGGGGTGTAAAACCTTTCTGTAAACCATGAGAGGACATCATTAGCATCCACCCGCAAT 41727219 41727389 41727358 41727359 41727359 upstr_intron -11 -0.24390243902439 ATTGCGGGTGGATGCTAATGATGTCCTCTCATGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC mutant NA NA NA NA NA 2102 167 0.8 0.8 0.8 1 0.997441063602373 0.942710880626011 0.992202167744031 NA NA -0.142710880626011 -0.192202167744031 0.998720531801186 0.967456524185021 NA -0.167456524185021 NA FALSE NA 0.773 0.299 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 4/42 1 NA AAG A,T 8.236e-06 8:41727359 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252268 intron_variant 0.141322 0.32423 0.38967 0.077194 0.776298658209701 0.152899 0.999999999957629 TRUE 4.06517e-06 ENSE00001252268_007 ENSE00001252268 007 8 41584738 41584907 - 30 99 41 A C 41584889 1136 19 GTGGTGACGACATTTTTCCAAGGTACTTACTTCTGTGGCTACATTCTGGTTAGCTCCATTTTCCAGTAAAAACTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGTACAGGGGTGTAAAACCTTTCTGTAAACCAAGAGAGGACATCCTTAGCATCCACCCGCAAT 41727219 41727389 41727370 41727371 41727371 upstr_intron -23 -0.536585365853659 ATTGCGGGTGGATGCTAAGGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC mutant NA NA NA NA NA 117 181 0.908590941913993 0.924336007541048 0.916463474727521 1 0.997441063602373 0.942710880626011 0.992202167744031 NA NA -0.034119938712018 -0.0678661602029833 0.998720531801186 0.967456524185021 NA -0.0509930494575007 NA FALSE NA 0.02 1.003 NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:41727371 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252268 intron_variant -0.121962 0.27351 0.29971 0.077194 0.461059264245241 0.0540053 0.999999999957629 TRUE 0.000550311 ENSE00001252268_010 ENSE00001252268 010 8 41584738 41584907 - 30 99 41 A G 41584895 1139 13 GTGGTGACGACATTTTTCCAAGGTACTTACTTCTGTGGCTACATTCTGGTTAGCTCCATTTTCCAGTAAAAACTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGTACAGGGGTGTAAAACCTTTCTGTAAACCAAGAGAGGACATCATTAGCGTCCACCCGCAAT 41727219 41727389 41727376 41727377 41727377 upstr_intron -29 -0.682926829268293 ATTGCGGGTGGACGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC mutant NA NA NA NA NA 637 247 0.996128282437064 0.997654848475373 0.996891565456219 1 0.997441063602373 0.942710880626011 0.992202167744031 NA NA 0.0534174018110527 0.00545268073134175 0.998720531801186 0.967456524185021 NA 0.0294350412711972 NA FALSE NA 0 0.694 . intron_variant MODIFIER ANK1 HGNC 492 ENST00000265709 4/42 1 NA CAT A,G 4.118e-05 8:41727377 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00001252268 intron_variant 0.243598 0.30083 0.11702 0.077194 0.404908347962744 0.0540053 0.999999999957629 TRUE 1.63465e-05 ENSE00001252268_BRK ENSE00001252268 BRK 8 41584738 41584907 - 30 99 41 A,G; T,T NA NA NA GTGGTGACGACATTTTTCCAAGGTACTTGGTTCTGTGGCTACATTCTGGTTAGCTCCATTTTCCAGTAAAAACTTAACCACTTCCAAGTGGTTCTCTTGTGCTGCCATGTACAGGGGTGTAAAACCTTTAAGTAAACCAAGAGAGGACATCATTAGCATCCACCCGCAAT 41727219 41727389 NA NA NA NA NA NA ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACTTAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAACCAAGTACCTTGGAAAAATGTCGTCACCAC ATTGCGGGTGGATGCTAATGATGTCCTCTCTTGGTTTACAGAAAGGTTTTACACCCCTGTACATGGCAGCACAAGAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCCACAGAAGTAAGTACCTTGGAAAAATGTCGTCACCAC control 61 60 0.85 0.85 0.85 NA NA NA NA NA 1 0.997441063602373 0.942710880626011 0.992202167744031 -0.15 -0.147441063602373 NA NA 0.998720531801186 0.967456524185021 -0.148720531801186 NA NA NA FALSE NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00001252268 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001252325_000 ENSE00001252325 000 8 41521139 41521308 - 38 84 48 NA NA NA NA NA GCCTCTCCCCAGCACAGAGGGGAACACTCTGCACCCACCTTCTTGGTGACAATGTTGCCCTGCTCATCCGTGAATTGCTCCTCTGTCACCTGCTCCCCTGGAATATTCTGAAACTCATTCCCCTGGAATTAGAGAAAGGGAGAAAATGCAAGATTGGTGAGTGGGAGTCT 41663620 41663790 NA NA NA NA NA NA AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC natural 13 24 0.998540626941823 0.985525772894995 0.992033199918409 102 55 1 0.941108959779557 0.970554479889778 0.998540626941823 0.985525772894995 1 0.941108959779557 0 0 0 0 0.992033199918409 0.970554479889778 0 0 0 FALSE FALSE NA NA NA NA NA ANK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK1 NA NA NA ENSG00000029534 ENSE00003603014 NA NA NA NA NA NA NA 0.999999999957629 TRUE NA ENSE00001257233_000 ENSE00001257233 000 22 24432493 24432662 + 44 93 33 NA NA NA NA NA GTCCACCTACAGAGAAGACCTCGCATTACGTACCTGAGCCTCCTTTGTCTGGGTTTTGTGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTGGAGCTGGCATTTAAGGCTGCAATTCGAATCTAGAAACAGGGGTTTGGTGGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 NA NA NA NA NA NA CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC natural NA NA NA NA NA 1512 1452 0.997165347412566 0.994682965182238 0.995924156297402 NA NA 0.997165347412566 0.994682965182238 NA NA 0 0 NA 0.995924156297402 NA 0 NA FALSE NA NA NA NA NA NA CABIN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CABIN1 NA NA NA ENSG00000099991 ENSE00001257233 NA NA NA NA NA NA NA 8.54365661226281e-08 FALSE NA ENSE00001257233_003 ENSE00001257233 003 22 24432493 24432662 + 44 93 33 C T 24432517 317 25 GTCCACCTACAGAGAAGACCTCGCATTACGTACCTGAGCCTCCTTTGTCTGGGTTTTGTGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTGGAGCTGGCATTTAAGGCTGCAATTCGAATCTAGAAACAGGGGTTTGGTAGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 24036068 24036069 24036069 upstr_intron -20 -0.431818181818182 CATCTCAAAGCAACTTGTCTCTTCTACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC mutant NA NA NA NA NA 205 54 1 1 1 NA NA 0.997165347412566 0.994682965182238 NA NA 0.00283465258743421 0.0053170348177618 NA 0.995924156297402 NA 0.004075843702598 NA FALSE NA 0.001 0.56 . intron_variant MODIFIER CABIN1 HGNC 24187 ENST00000445422 2/8 rs372605584 1 NA T:0.0002 T:0.0001 CCA C,T 1.647e-05 22:24036069 CABIN1 HGNC Symbol protein_coding 167436 ENSG00000099991 ENSE00001257233 intron_variant 0.51166 0.27935 0.02344 0.156188 0.648902793822003 0.0647611 8.54365661226281e-08 FALSE 1.2184e-05 ENSE00001257233_006 ENSE00001257233 006 22 24432493 24432662 + 44 93 33 G A 24432541 320 49 GTCCACCTACAGAGAAGACCTCGCATTACGTACCTGAGCCTCCTTTGTCTGGGTTTTGTGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTGGAGCTGGCATTTAAGGCTGCAATTTGAATCTAGAAACAGGGGTTTGGTGGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 24036092 24036093 24036093 exon 5 0.0537634408602151 CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCAAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC mutant NA NA NA NA NA 102 110 0.980158288507943 0.8 0.890079144253971 NA NA 0.997165347412566 0.994682965182238 NA NA -0.0170070589046227 -0.194682965182238 NA 0.995924156297402 NA -0.10584501204343 NA FALSE NA 1 9.225 . missense_variant MODERATE CABIN1 HGNC 24187 ENST00000445422 3/9 rs199800229 1 deleterious(0) probably_damaging(0.997) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGA G,A 8.236e-06 22:24036093 CABIN1 HGNC Symbol protein_coding 167436 ENSG00000099991 ENSE00001257233 missense_variant 7.328101 0.9918 0.98995 0.732398 0.999555094075944 0 8.54365661226281e-08 FALSE NA ENSE00001257233_007 ENSE00001257233 007 22 24432493 24432662 + 44 93 33 C T 24432559 321 67 GTCCACCTACAGAGAAGACCTCGCATTACGTACCTGAGCCTCCTTTGTCTGGGTTTTGTGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTGGAGCTGACATTTAAGGCTGCAATTCGAATCTAGAAACAGGGGTTTGGTGGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 24036110 24036111 24036111 exon 23 0.247311827956989 CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGTCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC mutant NA NA NA NA NA 371 14 1 1 1 NA NA 0.997165347412566 0.994682965182238 NA NA 0.00283465258743421 0.0053170348177618 NA 0.995924156297402 NA 0.004075843702598 NA FALSE NA 1 7.294 . missense_variant MODERATE CABIN1 HGNC 24187 ENST00000445422 3/9 1 tolerated(0.09) possibly_damaging(0.891) NA GCC C,T 8.236e-06 22:24036111 CABIN1 HGNC Symbol protein_coding 167436 ENSG00000099991 ENSE00001257233 missense_variant 6.876846 0.99159 0.98275 0.732398 0.997977623065836 0 8.54365661226281e-08 FALSE 4.06118e-06 ENSE00001257233_008 ENSE00001257233 008 22 24432493 24432662 + 44 93 33 C T 24432566 322 74 GTCCACCTACAGAGAAGACCTCGCATTACGTACCTGAGCCTCCTTTGTCTGGGTTTTGTGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTAGAGCTGGCATTTAAGGCTGCAATTCGAATCTAGAAACAGGGGTTTGGTGGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 24036117 24036118 24036118 exon 30 0.32258064516129 CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCTACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC mutant NA NA NA NA NA 287 1156 1 0.922840851503631 0.961420425751816 NA NA 0.997165347412566 0.994682965182238 NA NA 0.00283465258743421 -0.0718421136786068 NA 0.995924156297402 NA -0.0345037305455863 NA FALSE NA 0.983 0.153 NA NA NA CABIN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:24036118 CABIN1 HGNC Symbol protein_coding 167436 ENSG00000099991 ENSE00001257233 synonymous_variant 1.350023 0.95904 0.68526 0.732398 0.642296723682542 0 8.54365661226281e-08 FALSE 8.12189e-06 ENSE00001257233_015 ENSE00001257233 015 22 24432493 24432662 + 44 93 33 C T 24432605 329 113 GTCCACCTACAGAGAAGACCTCGCATTACGTACCTGAGCCTCCTTTGTCTGGGTTTTATGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTGGAGCTGGCATTTAAGGCTGCAATTCGAATCTAGAAACAGGGGTTTGGTGGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 24036156 24036157 24036157 exon -25 0.741935483870968 CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCATAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC mutant NA NA NA NA NA 76 100 1 1 1 NA NA 0.997165347412566 0.994682965182238 NA NA 0.00283465258743421 0.0053170348177618 NA 0.995924156297402 NA 0.004075843702598 NA FALSE NA 0.975 0.181 . synonymous_variant LOW CABIN1 HGNC 24187 ENST00000445422 3/9 1 NA ACA C,T 8.236e-06 22:24036157 CABIN1 HGNC Symbol protein_coding 167436 ENSG00000099991 ENSE00001257233 synonymous_variant 1.479181 0.95166 0.63094 0.732398 0.639142461583562 0 8.54365661226281e-08 FALSE 2.03047e-05 ENSE00001257233_017 ENSE00001257233 017 22 24432493 24432662 + 44 93 33 C T 24432633 331 141 GTCCACCTACAGAGAAGACCTCGCATTACATACCTGAGCCTCCTTTGTCTGGGTTTTGTGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTGGAGCTGGCATTTAAGGCTGCAATTCGAATCTAGAAACAGGGGTTTGGTGGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 24036184 24036185 24036185 downstr_intron 4 1.125 CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTATGTAATGCGAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC mutant NA NA NA NA NA 1491 274 0.997121831458271 0.999422363341938 0.998272097400104 NA NA 0.997165347412566 0.994682965182238 NA NA -4.35159542950814e-05 0.00473939815969937 NA 0.995924156297402 NA 0.00234794110270214 NA FALSE NA 0.964 0.298 . splice_region_variant&intron_variant LOW CABIN1 HGNC 24187 ENST00000445422 3/8 1 NA ACG C,T 1.647e-05 22:24036185 CABIN1 HGNC Symbol protein_coding 167436 ENSG00000099991 ENSE00001257233 splice_region_variant 1.83966 0.95824 0.52945 0.156188 0.759140060495553 0.548973 8.54365661226281e-08 FALSE 1.21838e-05 ENSE00001257233_019 ENSE00001257233 019 22 24432493 24432662 + 44 93 33 G A 24432641 333 149 GTCCACCTACAGAGAAGACCTTGCATTACGTACCTGAGCCTCCTTTGTCTGGGTTTTGTGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTGGAGCTGGCATTTAAGGCTGCAATTCGAATCTAGAAACAGGGGTTTGGTGGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 24036192 24036193 24036193 downstr_intron 12 1.375 CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCAAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC mutant NA NA NA NA NA 133 40 0.99232892667521 1 0.996164463337605 NA NA 0.997165347412566 0.994682965182238 NA NA -0.00483642073735568 0.0053170348177618 NA 0.995924156297402 NA 0.000240307040203058 NA FALSE NA 0 -0.326 . intron_variant MODIFIER CABIN1 HGNC 24187 ENST00000445422 3/8 1 NA CGA G,A 8.237e-06 22:24036193 CABIN1 HGNC Symbol protein_coding 167436 ENSG00000099991 ENSE00001257233 intron_variant 0.73513 0.15043 0.00468 0.099367 0.774942993671703 0.0968874 8.54365661226281e-08 FALSE 8.12301e-06 ENSE00001257233_BRK ENSE00001257233 BRK 22 24432493 24432662 + 44 93 33 A,G; T,T NA NA NA GTCCACCTACAGAGAAGACCTCGCATTACGTGGCTGAGCCTCCTTTGTCTGGGTTTTGTGACTTTTAAAGCTTCCTTCATGATCATCCTCAATGGTGGAGCTGGCATTTAAGGCTGCAATTCGAATAAAGAAACAGGGGTTTGGTGGAAGAGACAAGTTGCTTTGAGATG 24036044 24036214 NA NA NA NA NA NA CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTTTATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGCCACGTAATGCGAGGTCTTCTCTGTAGGTGGAC CATCTCAAAGCAACTTGTCTCTTCCACCAAACCCCTGTTTCTAGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGTACGTAATGCGAGGTCTTCTCTGTAGGTGGAC control 11 11 0 0 0 191 1592 0 0.000200891471674932 0.000100445735837466 NA NA 0.997165347412566 0.994682965182238 NA NA -0.997165347412566 -0.994482073710563 NA 0.995924156297402 NA -0.995823710561565 NA TRUE NA NA NA NA NA NA CABIN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CABIN1 NA NA NA ENSG00000099991 ENSE00001257233 NA NA NA NA NA NA NA 8.54365661226281e-08 FALSE NA ENSE00001258162_000 ENSE00001258162 000 15 74865149 74865318 + 54 72 44 NA NA NA NA NA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 NA NA NA NA NA NA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA natural 13 20 1 0.992382516330253 0.996191258165127 395 2178 0.991060849035083 0.951013649476231 0.971037249255657 1 0.992382516330253 0.991060849035083 0.951013649476231 0 0 0 0 0.996191258165127 0.971037249255657 0 0 0 FALSE FALSE NA NA NA NA NA ARID3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARID3B NA NA NA ENSG00000179361 ENSE00003621824 NA NA NA NA NA NA NA 0.964041164914236 TRUE NA ENSE00001258162_002 ENSE00001258162 002 15 74865149 74865318 + 54 72 44 A C 74865178 1904 30 CTAACTCTTTCTCTTCCTTTGCCCCTCTCCACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572836 74572837 74572837 upstr_intron -25 -0.444444444444444 CTAACTCTTTCTCTTCCTTTGCCCCTCTCCACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 23 13 1 1 1 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.048986350523769 0.996191258165127 0.971037249255657 NA 0.028962750744343 NA FALSE NA 0.023 1.642 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 1 NA CAA A,C 1.647e-05 15:74572837 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 intron_variant 0.801709 0.34102 0.09897 0.156188 0.774065940878944 0.0476449 0.964041164914236 TRUE 8.12334e-06 ENSE00001258162_003 ENSE00001258162 003 15 74865149 74865318 + 54 72 44 A G 74865179 1905 31 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAGCTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572837 74572838 74572838 upstr_intron -24 -0.425925925925926 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAGCTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 87 65 1 1 1 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.048986350523769 0.996191258165127 0.971037249255657 NA 0.028962750744343 NA FALSE NA 0.013 0.205 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 1 NA AAC A,G 0.0002389 15:74572838 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 intron_variant 1.072489 0.19582 0.03531 0.156188 0.663302846919006 0.0476449 0.964041164914236 TRUE 0.000475243 ENSE00001258162_004 ENSE00001258162 004 15 74865149 74865318 + 54 72 44 T C 74865183 1906 35 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTCGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572841 74572842 74572842 upstr_intron -20 -0.351851851851852 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTCGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 14 305 0.8 1 0.9 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA -0.191060849035083 0.048986350523769 0.996191258165127 0.971037249255657 NA -0.071037249255657 NA FALSE NA 0 0.801 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 1 NA TTG T,C 8.236e-06 15:74572842 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 intron_variant 1.392883 0.47936 0.38013 0.156188 0.827723431442656 0.886897 0.964041164914236 TRUE 4.06118e-06 ENSE00001258162_005 ENSE00001258162 005 15 74865149 74865318 + 54 72 44 T C 74865199 1907 51 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTCTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572857 74572858 74572858 upstr_intron -4 -0.0555555555555556 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTCTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 235 471 1 1 1 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.048986350523769 0.996191258165127 0.971037249255657 NA 0.028962750744343 NA FALSE NA 0 0.032 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 rs371431818 1 NA C:0 C:0.0002 TTT T,C 0.0001153 15:74572858 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 splice_region_variant 0.901567 0.27015 0.22143 0.156188 0.729437593594876 0.325551 0.964041164914236 TRUE 0.000101526 ENSE00001258162_009 ENSE00001258162 009 15 74865149 74865318 + 54 72 44 C T 74865241 1911 93 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGTCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572899 74572900 74572900 exon -34 0.541666666666667 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGTCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 524 432 0.82091029401891 1 0.910455147009455 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA -0.170150555016173 0.048986350523769 0.996191258165127 0.971037249255657 NA -0.0605821022462018 NA FALSE NA 1 0.946 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 rs558632085 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCC C,T 8.236e-06 15:74572900 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 synonymous_variant 2.117033 0.93581 0.90346 0.460665 0.716516645975387 0 0.964041164914236 TRUE 4.06177e-06 ENSE00001258162_011 ENSE00001258162 011 15 74865149 74865318 + 54 72 44 G A 74865243 1913 95 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCAGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572901 74572902 74572902 exon -32 0.569444444444444 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCAGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 310 17 1 1 1 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.048986350523769 0.996191258165127 0.971037249255657 NA 0.028962750744343 NA FALSE NA 1 5.801 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 rs577591308 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 8.236e-06 15:74572902 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 missense_variant 7.434539 0.95574 0.94828 0.460665 0.999592948370359 0 0.964041164914236 TRUE 8.12301e-06 ENSE00001258162_012 ENSE00001258162 012 15 74865149 74865318 + 54 72 44 G A 74865253 1914 105 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAAATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572911 74572912 74572912 exon -22 0.708333333333333 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAAATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 345 42 0.999880654010254 0.805984248219096 0.902932451114675 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00881980497517076 -0.145029401257135 0.996191258165127 0.971037249255657 NA -0.0681047981409822 NA FALSE NA 1 0.859 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 rs569365657 1 NA AGA G,A 8.236e-06 15:74572912 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 synonymous_variant 1.189996 0.91538 0.69566 0.372202 0.53614322030395 0 0.964041164914236 TRUE 8.12269e-06 ENSE00001258162_013 ENSE00001258162 013 15 74865149 74865318 + 54 72 44 T G 74865255 1915 107 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGAGCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572913 74572914 74572914 exon -20 0.736111111111111 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGAGCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 229 1092 1 0.998189572869997 0.999094786434998 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.0471759233937655 0.996191258165127 0.971037249255657 NA 0.0280575371793413 NA FALSE NA 1 3.349 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 1 NA ATC T,G 3.295e-05 15:74572914 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 missense_variant 5.583161 0.93671 0.83466 0.372202 0.985449444005737 0 0.964041164914236 TRUE 2.03064e-05 ENSE00001258162_014 ENSE00001258162 014 15 74865149 74865318 + 54 72 44 C A 74865256 1916 108 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATATCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572914 74572915 74572915 exon -19 0.75 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATATCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 80 320 1 0.998195894197162 0.999097947098581 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.0471822447209309 0.996191258165127 0.971037249255657 NA 0.028060697842924 NA FALSE NA 1 0.727 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 1 NA TCT C,A 3.295e-05 15:74572915 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 synonymous_variant 2.765209 0.94359 0.85486 0.372202 0.768609589868558 0 0.964041164914236 TRUE 2.03082e-05 ENSE00001258162_015 ENSE00001258162 015 15 74865149 74865318 + 54 72 44 G A 74865261 1917 113 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCAAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572919 74572920 74572920 exon -14 0.819444444444444 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCAAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 281 398 0.996280122192067 0.975290771536676 0.985785446864371 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00521927315698423 0.0242771220604445 0.996191258165127 0.971037249255657 NA 0.0147481976087144 NA FALSE NA 1 5.967 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 1 NA CGA G,A 8.236e-06 15:74572920 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 missense_variant 7.743843 0.96839 0.96541 0.372202 0.999574089844448 0 0.964041164914236 TRUE 4.06131e-06 ENSE00001258162_016 ENSE00001258162 016 15 74865149 74865318 + 54 72 44 C T 74865271 1918 123 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCTAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572929 74572930 74572930 exon -4 0.958333333333333 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCTAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 12 21 1 1 1 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.048986350523769 0.996191258165127 0.971037249255657 NA 0.028962750744343 NA FALSE NA 1 2.559 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 rs541780405 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 CCA C,T 0.0001235 15:74572930 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 synonymous_variant 1.909001 0.91632 0.76293 0.372202 0.717624609230019 0 0.964041164914236 TRUE 0.000105599 ENSE00001258162_017 ENSE00001258162 017 15 74865149 74865318 + 54 72 44 C T 74865285 1919 137 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATATTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572943 74572944 74572944 downstr_intron 11 1.25581395348837 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATATTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 267 225 0.985330772634649 1 0.992665386317325 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA -0.00573007640043377 0.048986350523769 0.996191258165127 0.971037249255657 NA 0.0216281370616676 NA FALSE NA 0 0.012 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 rs559653912 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACT C,T 0.0003542 15:74572944 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 intron_variant 0.76517 0.17364 0.00725 0.099367 0.779171948254052 0.284212 0.964041164914236 TRUE 0.00030869 ENSE00001258162_018 ENSE00001258162 018 15 74865149 74865318 + 54 72 44 C A 74865288 1920 140 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTACTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 74572946 74572947 74572947 downstr_intron 14 1.32558139534884 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTACTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 113 309 1 0.925190809450368 0.962595404725184 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 -0.0258228400258627 0.996191258165127 0.971037249255657 NA -0.00844184453047281 NA FALSE NA 0 0.087 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 1 NA TCC C,A 8.236e-06 15:74572947 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 intron_variant 1.326295 0.24747 0.13758 0.099367 0.768159477422713 0.233265 0.964041164914236 TRUE 4.06164e-06 ENSE00001258162_019 ENSE00001258162 019 15 74865149 74865318 + 54 72 44 A G 74865304 1921 156 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATGGGGGCAGTTCTGCA 74572807 74572977 74572962 74572963 74572963 downstr_intron 30 1.69767441860465 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATGGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 395 10 1 1 1 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.048986350523769 0.996191258165127 0.971037249255657 NA 0.028962750744343 NA FALSE NA 0 0.013 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 rs376176189&TMP_ESP_15_74865304_74865304 1 NA & & G:0.0002&-:0.0002 G:0&-:0.0002 TAG A,G 1.649e-05 15:74572963 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 intron_variant 0.152025 0.21543 0.04418 0.099367 0.636470217430646 0.0678143 0.964041164914236 TRUE 8.12632e-06 ENSE00001258162_020 ENSE00001258162 020 15 74865149 74865318 + 54 72 44 G A 74865306 1922 158 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGAGGCAGTTCTGCA 74572807 74572977 74572964 74572965 74572965 downstr_intron 32 1.74418604651163 CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGAGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA mutant NA NA NA NA NA 92 97 1 1 1 1 0.992382516330253 0.991060849035083 0.951013649476231 NA NA 0.00893915096491704 0.048986350523769 0.996191258165127 0.971037249255657 NA 0.028962750744343 NA FALSE NA 0.002 0.35 . intron_variant MODIFIER ARID3B HGNC 14350 ENST00000566147 1/2 rs202037846 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGG G,A 1.647e-05 15:74572965 ARID3B HGNC Symbol protein_coding 56954 ENSG00000179361 ENSE00003621824 intron_variant 0.542737 0.24137 0.11479 0.099367 0.696470127772058 0.0678143 0.964041164914236 TRUE 1.21916e-05 ENSE00001258162_BRK ENSE00001258162 BRK 15 74865149 74865318 + 54 72 44 A,G; T,T NA NA NA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTTTAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGCCCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA 74572807 74572977 NA NA NA NA NA NA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTTTAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGCCCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA CTAACTCTTTCTCTTCCTTTGCCCCTCTCAACTTTGTGTTTTGTTCCCTTTTAGAATGGTGGTTTGGCCTGGAGTGATGATGCAGATGGAGGCCGGGGAAGAGAGATCTCTCGAGATTTTGCCAAGGTCTGTAATACTTCCTTTGTGATACAGATAGGGGCAGTTCTGCA control 84 33 0 0 0 29 1320 0 0 0 1 0.992382516330253 0.991060849035083 0.951013649476231 -1 -0.992382516330253 -0.991060849035083 -0.951013649476231 0.996191258165127 0.971037249255657 -0.996191258165127 -0.971037249255657 0.0251540089094696 TRUE TRUE NA NA NA NA NA ARID3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARID3B NA NA NA ENSG00000179361 ENSE00003621824 NA NA NA NA NA NA NA 0.964041164914236 TRUE NA ENSE00001258329_000 ENSE00001258329 000 20 50244101 50244270 - 38 84 48 NA NA NA NA NA TCAGGAGCTCTCAGCACCGCTCCCACTCGACCGTGGTCTATTTTTCAGTGTGGCAACATGGCCCGAGAAGGGCTGCGGGTGCTCGTGGTGGCAAAGAAGTCTCTTGCAGAGGAGCAGTATCAGGACTTTGAAGTAAGTTGTTCTGGGACCTTTCCATTGCCTTTGCAGCC 51627561 51627731 NA NA NA NA NA NA TCAGGAGCTCTCAGCACCGCTCCCACTCGACCGTGGTCTATTTTTCAGTGTGGCAACATGGCCCGAGAAGGGCTGCGGGTGCTCGTGGTGGCAAAGAAGTCTCTTGCAGAGGAGCAGTATCAGGACTTTGAAGTAAGTTGTTCTGGGACCTTTCCATTGCCTTTGCAGCC TCAGGAGCTCTCAGCACCGCTCCCACTCGACCGTGGTCTATTTTTCAGTGTGGCAACATGGCCCGAGAAGGGCTGCGGGTGCTCGTGGTGGCAAAGAAGTCTCTTGCAGAGGAGCAGTATCAGGACTTTGAAGTAAGTTGTTCTGGGACCTTTCCATTGCCTTTGCAGCC natural 90 90 0.894410401588408 0.825474166530758 0.859942284059583 319 161 0.974838511468563 0.944310883983642 0.959574697726102 0.894410401588408 0.825474166530758 0.974838511468563 0.944310883983642 0 0 0 0 0.859942284059583 0.959574697726102 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001258329 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001259524_000 ENSE00001259524 000 4 1090511 1090680 - 42 75 53 NA NA NA NA NA CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 NA NA NA NA NA NA CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG natural 101 101 0.961460102513024 0.99661715441158 0.979038628462302 4075 3280 0.987478822825263 0.919417745688087 0.953448284256675 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 0 0 0 0 0.979038628462302 0.953448284256675 0 0 0 FALSE FALSE NA NA NA NA NA RNF212 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF212 NA NA NA ENSG00000178222 ENSE00003691287 NA NA NA NA NA NA NA 0.125225584495356 FALSE NA ENSE00001259524_001 ENSE00001259524 001 4 1090511 1090680 - 42 75 53 C T 1090523 79 158 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCATGATGAGCCAGG 1096722 1096892 1096734 1096735 1096735 downstr_intron 30 1.73170731707317 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCATGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 248 5289 0.991790301812644 0.86498238384238 0.928386342827512 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0043114789873816 -0.054435361845707 0.979038628462302 0.953448284256675 NA -0.0250619414291627 NA FALSE NA 0 -2.678 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 rs370777761 1 NA T:0.0002 T:0.0001 ACG C,T 3.295e-05 4:1096735 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 non_coding_transcript_exon_variant 0.197416 0.06884 0.00199 0.073086 0.74801412167633 0.0863399 0.125225584495356 FALSE 2.44567e-05 ENSE00001259524_002 ENSE00001259524 002 4 1090511 1090680 - 42 75 53 C G 1090529 80 152 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTCGTTCCGTGATGAGCCAGG 1096722 1096892 1096740 1096741 1096741 downstr_intron 24 1.58536585365854 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTCGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 783 199 1 1 1 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 0.0805822543119129 0.979038628462302 0.953448284256675 NA 0.046551715743325 NA FALSE NA 0 0.192 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 1 NA CCA C,G 1.647e-05 4:1096741 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 non_coding_transcript_exon_variant 0.135388 0.09722 0.01468 0.073086 0.6637403754987 0.0484394 0.125225584495356 FALSE 1.22105e-05 ENSE00001259524_004 ENSE00001259524 004 4 1090511 1090680 - 42 75 53 C G 1090534 82 147 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTCGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096745 1096746 1096746 downstr_intron 19 1.46341463414634 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTCGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 289 52 0.990860325310998 0.96843284532345 0.979646585317224 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.00338150248573466 0.049015099635363 0.979038628462302 0.953448284256675 NA 0.0261983010605488 NA FALSE NA 0 0.03 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 1 NA CCA C,G 2.471e-05 4:1096746 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 non_coding_transcript_exon_variant -0.001833 0.10344 0.0108 0.073086 0.628982746414769 0.0484394 0.125225584495356 FALSE 2.03525e-05 ENSE00001259524_005 ENSE00001259524 005 4 1090511 1090680 - 42 75 53 C T 1090539 83 142 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGAGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096750 1096751 1096751 downstr_intron 14 1.34146341463415 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGAGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 62 24 0.993868663184602 0.993352394273643 0.993610528729122 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.00638984035933921 0.0739346485855558 0.979038628462302 0.953448284256675 NA 0.0401622444724475 NA FALSE NA 0 0.766 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 rs374403252 1 NA T:0.0005 T:0 CCC C,T 6.589e-05 4:1096751 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 non_coding_transcript_exon_variant 0.141184 0.13498 0.01424 0.073086 0.672891909717214 0.0823455 0.125225584495356 FALSE 5.2846e-05 ENSE00001259524_007 ENSE00001259524 007 4 1090511 1090680 - 42 75 53 C T 1090545 85 136 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTATGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096756 1096757 1096757 downstr_intron 8 1.19512195121951 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTATGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 31 204 1 1 1 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 0.0805822543119129 0.979038628462302 0.953448284256675 NA 0.046551715743325 NA FALSE NA 0 -0.649 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 rs372390304 1 NA T:0.0002 T:0 ACA C,T 8.236e-06 4:1096757 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 splice_region_variant 0.116122 0.10434 0.00376 0.073086 0.637581449544147 0.0490081 0.125225584495356 FALSE 4.06299e-06 ENSE00001259524_011 ENSE00001259524 011 4 1090511 1090680 - 42 75 53 G T 1090569 89 112 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTACAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096780 1096781 1096781 exon -17 0.786666666666667 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTACAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 67 656 0.998765022065641 0.998646871677906 0.998705946871774 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.011286199240378 0.0792291259898191 0.979038628462302 0.953448284256675 NA 0.0452576626150986 NA FALSE NA 0.965 3.042 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 1 NA GGA G,T 8.236e-06 4:1096781 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 missense_variant 0.769805 0.43218 0.69283 0.638212 0.613247703270619 0 0.125225584495356 FALSE 8.12216e-06 ENSE00001259524_012 ENSE00001259524 012 4 1090511 1090680 - 42 75 53 A C 1090570 90 111 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACGCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096781 1096782 1096782 exon -18 0.773333333333333 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACGCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 44 1062 0.860520938210267 0.999702045342641 0.930111491776454 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA -0.126957884614996 0.0802842996545536 0.979038628462302 0.953448284256675 NA -0.0233367924802212 NA FALSE NA 0.996 1.803 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 1 NA GAG A,C 3.295e-05 4:1096782 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 missense_variant -0.332445 0.36731 0.4404 0.638212 0.927120172683819 0 0.125225584495356 FALSE 1.62444e-05 ENSE00001259524_014 ENSE00001259524 014 4 1090511 1090680 - 42 75 53 G A 1090585 92 96 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTTTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096796 1096797 1096797 exon -33 0.573333333333333 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTTTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 527 497 1 1 1 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 0.0805822543119129 0.979038628462302 0.953448284256675 NA 0.046551715743325 NA FALSE NA 0.952 1.108 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 1 NA AGA G,A 8.236e-06 4:1096797 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 missense_variant -0.319867 0.29084 0.30293 0.553676 0.613393276066655 0 0.125225584495356 FALSE 4.06075e-06 ENSE00001259524_016 ENSE00001259524 016 4 1090511 1090680 - 42 75 53 T C 1090592 94 89 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATGGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096803 1096804 1096804 exon 36 0.48 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATGGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 461 115 0.998949683778716 0.989412434071995 0.994181058925355 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0114708609534526 0.0699946883839081 0.979038628462302 0.953448284256675 NA 0.0407327746686804 NA FALSE NA 0.179 -0.319 rs146161994 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 rs146161994 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0.0002 C:0.0005 CTA T,C 6.589e-05 4:1096804 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 missense_variant 0.847887 0.25593 0.15144 0.553676 0.444404921993366 0 0.125225584495356 FALSE 9.33957e-05 ENSE00001259524_017 ENSE00001259524 017 4 1090511 1090680 - 42 75 53 A G 1090616 95 65 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGACATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096827 1096828 1096828 exon 12 0.16 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGACATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 355 69 0.999418928706631 1 0.999709464353315 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0119401058813676 0.0805822543119129 0.979038628462302 0.953448284256675 NA 0.0462611800966403 NA FALSE NA 0.001 -1.256 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 1 NA TAT A,G 8.236e-06 4:1096828 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 missense_variant -1.15744 0.08442 0.00358 0.615465 0.412920245008198 0 0.125225584495356 FALSE 4.06075e-06 ENSE00001259524_018 ENSE00001259524 018 4 1090511 1090680 - 42 75 53 G A 1090620 96 61 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGTAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096831 1096832 1096832 exon 8 0.106666666666667 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGTAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 383 128 1 1 1 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 0.0805822543119129 0.979038628462302 0.953448284256675 NA 0.046551715743325 NA FALSE NA 0 0.327 rs140128337 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 rs140128337 1 NA A:0 A:0.0001 TGC G,A 6.589e-05 4:1096832 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 missense_variant 0.565878 0.14851 0.02686 0.615465 0.961416099013542 0 0.125225584495356 FALSE 9.34018e-05 ENSE00001259524_020 ENSE00001259524 020 4 1090511 1090680 - 42 75 53 G A 1090622 98 59 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGATGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096833 1096834 1096834 exon 6 0.08 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGATGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 130 137 1 0.998843843101432 0.999421921550716 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 0.0794260974133452 0.979038628462302 0.953448284256675 NA 0.0459736372940411 NA FALSE NA 0.432 1.704 rs193063713 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 3/3 rs193063713 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGT G,A 0.0001318 4:1096834 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 missense_variant -0.015284 0.16663 0.04707 0.615465 0.565158913419781 0 0.125225584495356 FALSE 0.000113705 ENSE00001259524_022 ENSE00001259524 022 4 1090511 1090680 - 42 75 53 G A 1090625 100 56 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACTGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096836 1096837 1096837 exon 3 0.04 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACTGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 217 14 1 0.8 0.9 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 -0.119417745688087 0.979038628462302 0.953448284256675 NA -0.053448284256675 NA FALSE NA 0 -5.482 rs4045481 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW RNF212 HGNC 27729 ENST00000454487 3/3 rs4045481&COSM3760329&COSM3760328&COSM3760327 1 G:0.4533 A:0.2988 A:0.5432 NA A:0.6498 A:0.6481 A:0.6738 A:0.3436 A:0.6866 CGG G,A 0.635 4:1096837 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 stop_gained -0.77715 0.029 0.00076 0.615465 0.63780848850334 0 0.125225584495356 FALSE 0.638576 ENSE00001259524_023 ENSE00001259524 023 4 1090511 1090680 - 42 75 53 A G 1090635 101 46 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCCCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096846 1096847 1096847 upstr_intron -8 -0.132075471698113 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCCCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 113 594 1 0.986201676700533 0.993100838350267 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 0.0667839310124461 0.979038628462302 0.953448284256675 NA 0.0396525540935916 NA FALSE NA 0.006 0.119 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RNF212 HGNC 27729 ENST00000454487 2/2 1 NA GAG A,G 8.236e-06 4:1096847 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 splice_region_variant -0.491884 0.14998 0.04281 0.053691 0.614211330836279 0.148231 0.125225584495356 FALSE 4.0627e-06 ENSE00001259524_024 ENSE00001259524 024 4 1090511 1090680 - 42 75 53 G C 1090636 102 45 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTGTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096847 1096848 1096848 upstr_intron -9 -0.150943396226415 CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTGTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 78 302 1 1 1 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 0.0805822543119129 0.979038628462302 0.953448284256675 NA 0.046551715743325 NA FALSE NA 0.011 0.94 . intron_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 2/2 1 NA AGA G,C 8.236e-06 4:1096848 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 intron_variant -0.366974 0.18057 0.23301 0.053691 0.485544308199146 0.145019 0.125225584495356 FALSE 4.06167e-06 ENSE00001259524_026 ENSE00001259524 026 4 1090511 1090680 - 42 75 53 T C 1090668 104 13 CCAGAAGCGTTTGTTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG 1096722 1096892 1096879 1096880 1096880 upstr_intron -41 -0.754716981132076 CCAGAAGCGTTTGTTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG CCAGAAGCGTTTATTAGACACAATAAATGTAGAGTCATTTCTTTCTCTTTCAGACCGACGCAGATATCCAGGCATTCTTCATGAGCATAGACAGTCTGTGTAAGAAGTACTCCAGGGAAACCTCCCAGGTGAGCTGTGAGGGGTGTGGCTTGGTTCCGTGATGAGCCAGG mutant NA NA NA NA NA 528 114 1 0.998610154450792 0.999305077225396 0.961460102513024 0.99661715441158 0.987478822825263 0.919417745688087 NA NA 0.0125211771747371 0.0791924087627053 0.979038628462302 0.953448284256675 NA 0.0458567929687212 NA FALSE NA 0 -0.146 . intron_variant&non_coding_transcript_variant MODIFIER RNF212 HGNC 27729 ENST00000454487 2/2 1 NA ATA T,C 8.236e-06 4:1096880 RNF212 HGNC Symbol protein_coding 57312 ENSG00000178222 ENSE00003691287 intron_variant 0.015993 0.08974 0.00509 0.053691 0.628966293262638 0.0468908 0.125225584495356 FALSE 4.07299e-06 ENSE00001260272_000 ENSE00001260272 000 16 84495279 84495448 + 41 99 30 NA NA NA NA NA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 NA NA NA NA NA NA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA natural 27 29 0.963831507768765 0.998408488478289 0.981119998123527 479 536 0.998094385727517 0.824527690774427 0.911311038250972 0.963831507768765 0.998408488478289 0.998094385727517 0.824527690774427 0 0 0 0 0.981119998123527 0.911311038250972 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003633105 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001260272_030 ENSE00001260272 030 16 84495279 84495448 + 41 99 30 G C 84495355 3049 77 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACCACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461748 84461749 84461749 exon 36 0.363636363636364 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACCACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 31 141 1 1 1 0.963831507768765 0.998408488478289 0.998094385727517 0.824527690774427 NA NA 0.0019056142724827 0.175472309225573 0.981119998123527 0.911311038250972 NA 0.0886889617490279 NA FALSE NA 0.003 -1.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003633105 synonymous_variant 0.702019 0.86432 0.14518 0.615465 0.674729237788205 0 8.6570108559178e-06 FALSE 8.12143e-06 ENSE00001260272_043 ENSE00001260272 043 16 84495279 84495448 + 41 99 30 G C 84495386 3062 108 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCCATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461779 84461780 84461780 exon -33 0.676767676767677 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCCATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 42 72 1 1 1 0.963831507768765 0.998408488478289 0.998094385727517 0.824527690774427 NA NA 0.0019056142724827 0.175472309225573 0.981119998123527 0.911311038250972 NA 0.0886889617490279 NA FALSE NA 1 9.37 NA NA NA ATP2C2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP2C2 NA NA NA ENSG00000064270 ENSE00003633105 missense_variant 6.071404 0.97473 0.97144 0.615465 0.994140568389314 0 NA NA 2.03064e-05 ENSE00001260300_000 ENSE00001260300 000 11 12886326 12886495 + 59 63 48 NA NA NA NA NA TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 NA NA NA NA NA NA TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT natural NA NA NA NA NA 1719 2690 0.99448997573681 0.947632051309862 0.971061013523336 NA NA 0.99448997573681 0.947632051309862 NA NA 0 0 NA 0.971061013523336 NA 0 NA FALSE NA NA NA NA NA NA TEAD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEAD1 NA NA NA ENSG00000187079 ENSE00001260300 NA NA NA NA NA NA NA NA NA NA ENSE00001260300_001 ENSE00001260300 001 11 12886326 12886495 + 59 63 48 C T 12886336 496 11 TTTTCATCTCTATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864788 12864789 12864789 upstr_intron -49 -0.813559322033898 TTTTCATCTCTATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 528 61 0.995875151201931 0.997398427262938 0.996636789232434 NA NA 0.99448997573681 0.947632051309862 NA NA 0.00138517546512129 0.049766375953076 NA 0.971061013523336 NA 0.0255757757090986 NA FALSE NA 1 6.076 . intron_variant MODIFIER TEAD1 HGNC 11714 ENST00000334310 3/11 1 NA CCA C,T 8.236e-06 11:12864789 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 non_coding_transcript_exon_variant 1.534165 0.95232 0.99419 0.120541 0.92522953657069 0.986815 NA NA 4.06471e-06 ENSE00001260300_003 ENSE00001260300 003 11 12886326 12886495 + 59 63 48 G T 12886346 498 21 TTTTCATCTCCATGGTTACATGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864798 12864799 12864799 upstr_intron -39 -0.644067796610169 TTTTCATCTCCATGGTTACATGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 153 181 1 1 1 NA NA 0.99448997573681 0.947632051309862 NA NA 0.00551002426319025 0.0523679486901383 NA 0.971061013523336 NA 0.0289389864766643 NA FALSE NA 1 9.477 . intron_variant MODIFIER TEAD1 HGNC 11714 ENST00000334310 3/11 1 NA AGG G,T 8.236e-06 11:12864799 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 non_coding_transcript_exon_variant 1.294046 0.96773 0.99835 0.120541 0.922411119218053 0.986076 NA NA 4.0625e-06 ENSE00001260300_004 ENSE00001260300 004 11 12886326 12886495 + 59 63 48 C T 12886348 499 23 TTTTCATCTCCATGGTTACAGGTTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864800 12864801 12864801 upstr_intron -37 -0.610169491525424 TTTTCATCTCCATGGTTACAGGTTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 112 217 0.983048574369056 0.97048275019339 0.976765662281223 NA NA 0.99448997573681 0.947632051309862 NA NA -0.0114414013677542 0.0228506988835285 NA 0.971061013523336 NA 0.00570464875788718 NA FALSE NA 1 7.82 . intron_variant MODIFIER TEAD1 HGNC 11714 ENST00000334310 3/11 1 NA GCT C,T 8.236e-06 11:12864801 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 non_coding_transcript_exon_variant 1.645283 0.96961 0.99777 0.120541 0.930167789260636 0.989343 NA NA 4.06227e-06 ENSE00001260300_005 ENSE00001260300 005 11 12886326 12886495 + 59 63 48 G A 12886358 500 33 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTATTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864810 12864811 12864811 upstr_intron -27 -0.440677966101695 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTATTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 852 112 0.961728625628066 0.992526552733642 0.977127589180854 NA NA 0.99448997573681 0.947632051309862 NA NA -0.0327613501087434 0.0448945014237807 NA 0.971061013523336 NA 0.00606657565751867 NA FALSE NA 1 7.694 . intron_variant MODIFIER TEAD1 HGNC 11714 ENST00000334310 3/11 1 NA TGT G,A 8.236e-06 11:12864811 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 non_coding_transcript_exon_variant 1.397635 0.9504 0.99465 0.120541 0.928362630934656 0.986973 NA NA 4.06164e-06 ENSE00001260300_010 ENSE00001260300 010 11 12886326 12886495 + 59 63 48 G A 12886381 505 56 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTACAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864833 12864834 12864834 upstr_intron -4 -0.0508474576271186 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTACAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 144 482 1 0.999671742191384 0.999835871095692 NA NA 0.99448997573681 0.947632051309862 NA NA 0.00551002426319025 0.052039690881522 NA 0.971061013523336 NA 0.0287748575723561 NA FALSE NA 1 9.873 . splice_region_variant&intron_variant LOW TEAD1 HGNC 11714 ENST00000334310 3/11 1 NA TGC G,A 8.236e-06 11:12864834 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 splice_region_variant 1.522666 0.97071 0.99838 0.120541 0.97227907433824 0.985774 NA NA 4.06088e-06 ENSE00001260300_011 ENSE00001260300 011 11 12886326 12886495 + 59 63 48 C T 12886410 506 85 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGTCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864862 12864863 12864863 exon 26 0.412698412698413 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGTCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 197 1385 0.991332627084249 0.873124084882484 0.932228355983367 NA NA 0.99448997573681 0.947632051309862 NA NA -0.00315734865256101 -0.0745079664273773 NA 0.971061013523336 NA -0.0388326575399692 NA FALSE NA 1 7.82 . missense_variant MODERATE TEAD1 HGNC 11714 ENST00000334310 4/12 1 deleterious(0.03) probably_damaging(0.998) NA GCC C,T 8.236e-06 11:12864863 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 missense_variant 4.923545 0.96758 0.99463 0.730579 0.998036621930458 0 NA NA 4.06105e-06 ENSE00001260300_012 ENSE00001260300 012 11 12886326 12886495 + 59 63 48 A G 12886434 507 109 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCGTTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864886 12864887 12864887 exon -14 0.793650793650794 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCGTTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 80 465 1 1 1 NA NA 0.99448997573681 0.947632051309862 NA NA 0.00551002426319025 0.0523679486901383 NA 0.971061013523336 NA 0.0289389864766643 NA FALSE NA 1 9.343 . missense_variant MODERATE TEAD1 HGNC 11714 ENST00000334310 4/12 1 deleterious(0.03) benign(0.174) NA CAT A,G 8.236e-06 11:12864887 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 missense_variant 3.126004 0.95988 0.99602 0.730579 0.973250149832939 0 NA NA 4.06108e-06 ENSE00001260300_015 ENSE00001260300 015 11 12886326 12886495 + 59 63 48 T C 12886464 510 139 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCCTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864916 12864917 12864917 downstr_intron 17 1.36170212765957 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCCTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 78 167 0.987782986136982 0.95 0.968891493068491 NA NA 0.99448997573681 0.947632051309862 NA NA -0.00670698959982818 0.00236794869013823 NA 0.971061013523336 NA -0.00216952045484498 NA FALSE NA 1 7.697 . intron_variant MODIFIER TEAD1 HGNC 11714 ENST00000334310 4/11 1 NA CTT T,C 8.236e-06 11:12864917 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 non_coding_transcript_exon_variant 1.161931 0.95848 0.9939 0.120541 0.895926820451767 0.973883 NA NA 4.06131e-06 ENSE00001260300_016 ENSE00001260300 016 11 12886326 12886495 + 59 63 48 C T 12886471 511 146 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGTTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 12864923 12864924 12864924 downstr_intron 24 1.51063829787234 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGTTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 41 2995 1 0.998160437793631 0.999080218896815 NA NA 0.99448997573681 0.947632051309862 NA NA 0.00551002426319025 0.0505283864837691 NA 0.971061013523336 NA 0.0280192053734797 NA FALSE NA 1 7.82 . intron_variant MODIFIER TEAD1 HGNC 11714 ENST00000334310 4/11 rs370547421 1 NA T:0.0002 T:0 GCT C,T 8.236e-06 11:12864924 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 non_coding_transcript_exon_variant 1.618679 0.96925 0.99464 0.120541 0.935962546728439 0.98922 NA NA 8.12354e-06 ENSE00001260300_018 ENSE00001260300 018 11 12886326 12886495 + 59 63 48 T C 12886482 513 157 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCCATGCATCTCACTT 12864778 12864948 12864934 12864935 12864935 downstr_intron 35 1.74468085106383 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCCATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 240 15 0.995276231887073 1 0.997638115943536 NA NA 0.99448997573681 0.947632051309862 NA NA 0.000786256150262954 0.0523679486901383 NA 0.971061013523336 NA 0.0265771024202006 NA FALSE NA 1 5.103 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:12864935 TEAD1 HGNC Symbol protein_coding 269892 ENSG00000187079 ENSE00001260300 non_coding_transcript_exon_variant 1.094233 0.93227 0.98761 0.120541 0.83082226795798 0.837638 NA NA 4.06171e-06 ENSE00001260300_019 ENSE00001260300 019 11 12886326 12886495 + 59 63 48 T A 12886482 514 157 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCAATGCATCTCACTT 12864778 12864948 12864934 12864935 12864935 downstr_intron 35 1.74468085106383 TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCAATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT mutant NA NA NA NA NA 737 298 0.998588405985571 1 0.999294202992785 NA NA 0.99448997573681 0.947632051309862 NA NA 0.004098430248761 0.0523679486901383 NA 0.971061013523336 NA 0.0282331894694496 NA FALSE NA 1 5.103 NA NA NA TEAD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEAD1 NA NA NA ENSG00000187079 ENSE00001260300 non_coding_transcript_exon_variant 1.382003 0.93452 0.99006 0.120541 0.870742604278753 0.837638 NA NA 4.06171e-06 ENSE00001260300_BRK ENSE00001260300 BRK 11 12886326 12886495 + 59 63 48 A,G; T,T NA NA NA TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCTTGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGCCATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT 12864778 12864948 NA NA NA NA NA NA TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCTTGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGCCATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT TTTTCATCTCCATGGTTACAGGCTTTTCCTTTGTTTTCCTCCCTTCCCCTACCCTGCAGGTGTCTAGTCACATTCAGGTTCTTGCCAGAAGGAAATCTCGTGATTTTCATTCCAAGCTAAAGGTATGCGCTTTTCTGCTTTTTGGCTTGTGGTTGCTATGCATCTCACTT control NA NA NA NA NA 181 70 0.00671807821286638 0 0.00335903910643319 NA NA 0.99448997573681 0.947632051309862 NA NA -0.987771897523943 -0.947632051309862 NA 0.971061013523336 NA -0.967701974416903 NA TRUE NA NA NA NA NA NA TEAD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEAD1 NA NA NA ENSG00000187079 ENSE00001260300 NA NA NA NA NA NA NA NA NA NA ENSE00001262635_000 ENSE00001262635 000 10 115356815 115356984 - 30 99 41 NA NA NA NA NA TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 NA NA NA NA NA NA TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC natural NA NA NA NA NA 1747 1339 0.920620493942695 0.945026090242762 0.932823292092729 NA NA 0.920620493942695 0.945026090242762 NA NA 0 0 NA 0.932823292092729 NA 0 NA FALSE NA NA NA NA NA NA NRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NRAP NA NA NA ENSG00000197893 ENSE00002504515 NA NA NA NA NA NA NA 2.58648973238176e-31 FALSE NA ENSE00001262635_003 ENSE00001262635 003 10 115356815 115356984 - 30 99 41 G A 115356863 2587 122 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGTTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597103 113597104 113597104 exon -19 0.818181818181818 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGTTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 367 370 1 1 1 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0793795060573048 0.0549739097572381 NA 0.932823292092729 NA 0.0671767079072715 NA FALSE NA 1 3.364 . synonymous_variant LOW NRAP HGNC 7988 ENST00000369360 36/41 1 NA AGC G,A 8.236e-06 10:113597104 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 synonymous_variant 0.882988 0.98954 0.9647 0.487112 0.697111377022951 0 2.58648973238176e-31 FALSE 4.06128e-06 ENSE00001262635_004 ENSE00001262635 004 10 115356815 115356984 - 30 99 41 T C 115356871 2588 114 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCGAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597111 113597112 113597112 exon -27 0.737373737373737 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCGAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 378 433 1 0.999634577274322 0.999817288637161 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0793795060573048 0.0546084870315601 NA 0.932823292092729 NA 0.0669939965444324 NA FALSE NA 1 6.145 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 deleterious(0) possibly_damaging(0.61) NA TTG T,C 1.647e-05 10:113597112 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 4.388531 0.9922 0.99129 0.487112 0.998842468604078 0 2.58648973238176e-31 FALSE 1.21833e-05 ENSE00001262635_005 ENSE00001262635 005 10 115356815 115356984 - 30 99 41 G T 115356873 2589 112 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGACAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597113 113597114 113597114 exon -29 0.717171717171717 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGACAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 989 691 1 0.972374829289926 0.986187414644963 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0793795060573048 0.0273487390471643 NA 0.932823292092729 NA 0.0533641225522345 NA FALSE NA 1 9.679 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 deleterious(0) probably_damaging(1) NA GGC G,T 8.236e-06 10:113597114 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 7.033597 0.99689 0.99865 0.487112 0.998445409535089 0 2.58648973238176e-31 FALSE 1.21832e-05 ENSE00001262635_006 ENSE00001262635 006 10 115356815 115356984 - 30 99 41 C T 115356874 2590 111 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATACCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597114 113597115 113597115 exon -30 0.707070707070707 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATACCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 1007 836 0.998029437892742 0.983497764088702 0.990763600990722 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0774089439500473 0.0384716738459405 NA 0.932823292092729 NA 0.0579403088979939 NA FALSE NA 1 7.669 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 deleterious(0.01) probably_damaging(0.999) NA GCA C,T 8.236e-06 10:113597115 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 7.456625 0.99662 0.99761 0.487112 0.999365325256385 0 2.58648973238176e-31 FALSE 4.06111e-06 ENSE00001262635_007 ENSE00001262635 007 10 115356815 115356984 - 30 99 41 T C 115356876 2591 109 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCGTGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597116 113597117 113597117 exon -32 0.686868686868687 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCGTGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 1276 1431 0.813851934177514 0.941533659216001 0.877692796696758 NA NA 0.920620493942695 0.945026090242762 NA NA -0.106768559765181 -0.00349243102676067 NA 0.932823292092729 NA -0.0551304953959709 NA FALSE NA 1 4.753 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 deleterious(0.04) probably_damaging(0.999) NA ATG T,C 8.236e-06 10:113597117 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 3.827921 0.98869 0.99135 0.487112 0.997833947845812 0 2.58648973238176e-31 FALSE 4.06108e-06 ENSE00001262635_008 ENSE00001262635 008 10 115356815 115356984 - 30 99 41 G A 115356891 2592 94 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTTCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597131 113597132 113597132 exon -47 0.535353535353535 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTTCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 286 37 0.994796939009892 0.981647355427897 0.988222147218895 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0741764450671972 0.0366212651851348 NA 0.932823292092729 NA 0.055398855126166 NA FALSE NA 1 9.679 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 deleterious(0) probably_damaging(0.999) NA GGA G,A 1.647e-05 10:113597132 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 6.853875 0.99675 0.99848 0.487112 0.998785623692895 0 2.58648973238176e-31 FALSE 8.12156e-06 ENSE00001262635_009 ENSE00001262635 009 10 115356815 115356984 - 30 99 41 T A 115356894 2593 91 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGTCTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597134 113597135 113597135 exon -50 0.505050505050505 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGTCTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant 88 15 1 1 1 567 1193 0.985920633145523 0.965313056097885 0.975616844621704 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0653001392028274 0.0202869658551227 NA 0.932823292092729 NA 0.042793552528975 NA FALSE NA 1 7.886 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 rs112632432 1 deleterious(0) probably_damaging(1) NA GTC T,A 8.236e-06 10:113597135 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 6.824213 0.99554 0.99769 0.487112 0.994893623271075 0 2.58648973238176e-31 FALSE 4.06075e-06 ENSE00001262635_010 ENSE00001262635 010 10 115356815 115356984 - 30 99 41 T C 115356902 2594 83 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACGGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597142 113597143 113597143 exon 42 0.424242424242424 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACGGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 302 271 0.997799063700944 0.994177497735568 0.995988280718256 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0771785697582492 0.0491514074928059 NA 0.932823292092729 NA 0.0631649886255276 NA FALSE NA 0 -3.274 . synonymous_variant LOW NRAP HGNC 7988 ENST00000369360 36/41 rs369765636 1 NA C:0 C:0.0001 CTG T,C 3.295e-05 10:113597143 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 synonymous_variant -0.019896 0.15259 0.04021 0.487112 0.477629787130211 0 2.58648973238176e-31 FALSE 3.24865e-05 ENSE00001262635_012 ENSE00001262635 012 10 115356815 115356984 - 30 99 41 G C 115356914 2596 71 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATGAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597154 113597155 113597155 exon 30 0.303030303030303 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATGAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 198 236 0.994106001412453 1 0.997053000706226 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0734855074697575 0.0549739097572381 NA 0.932823292092729 NA 0.0642297086134978 NA FALSE NA 1 1.413 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 tolerated(0.16) benign(0.023) NA TGA G,C 4.118e-05 10:113597155 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 2.044799 0.97692 0.78289 0.487112 0.985270203825582 0 2.58648973238176e-31 FALSE 2.84266e-05 ENSE00001262635_013 ENSE00001262635 013 10 115356815 115356984 - 30 99 41 G A 115356920 2597 65 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGATAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597160 113597161 113597161 exon 24 0.242424242424242 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGATAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 819 1202 0.883961138414831 0.999868403399378 0.941914770907105 NA NA 0.920620493942695 0.945026090242762 NA NA -0.0366593555278639 0.0548423131566165 NA 0.932823292092729 NA 0.00909147881437627 NA FALSE NA 1 1.496 . synonymous_variant LOW NRAP HGNC 7988 ENST00000369360 36/41 1 NA TGT G,A 8.236e-06 10:113597161 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 synonymous_variant 0.542599 0.983 0.93455 0.487112 0.532866785506365 0 2.58648973238176e-31 FALSE 4.06081e-06 ENSE00001262635_014 ENSE00001262635 014 10 115356815 115356984 - 30 99 41 G T 115356925 2598 60 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAAACAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597165 113597166 113597166 exon 19 0.191919191919192 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAAACAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 177 193 1 0.990877385763018 0.995438692881509 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0793795060573048 0.0458512955202559 NA 0.932823292092729 NA 0.0626154007887804 NA FALSE NA 1 5.216 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 deleterious(0) probably_damaging(1) NA GGT G,T 8.236e-06 10:113597166 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 6.371282 0.99352 0.99287 0.487112 0.996861109826514 0 2.58648973238176e-31 FALSE 4.06088e-06 ENSE00001262635_015 ENSE00001262635 015 10 115356815 115356984 - 30 99 41 T C 115356931 2599 54 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTGAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597171 113597172 113597172 exon 13 0.131313131313131 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTGAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 462 436 0.993244061522299 0.999122332686676 0.996183197104487 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0726235675796035 0.0540962424439138 NA 0.932823292092729 NA 0.0633599050117586 NA FALSE NA 1 2.145 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 deleterious(0.03) benign(0.007) NA TTA T,C 8.236e-06 10:113597172 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 3.550708 0.98064 0.91264 0.487112 0.988555463823099 0 2.58648973238176e-31 FALSE 4.06105e-06 ENSE00001262635_016 ENSE00001262635 016 10 115356815 115356984 - 30 99 41 C T 115356933 2600 52 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCATAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597173 113597174 113597174 exon 11 0.111111111111111 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCATAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 1120 288 0.993818003725132 0.987609661716818 0.990713832720975 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0731975097824372 0.0425835714740559 NA 0.932823292092729 NA 0.0578905406282466 NA FALSE NA 1 5.63 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 rs373953176 1 deleterious(0) probably_damaging(0.979) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0002 ACG C,T 0.0002636 10:113597174 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 8.27086 0.99648 0.99319 0.487112 0.999327373518054 0 2.58648973238176e-31 FALSE 0.000292421 ENSE00001262635_017 ENSE00001262635 017 10 115356815 115356984 - 30 99 41 A G 115356937 2601 48 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGCACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597177 113597178 113597178 exon 7 0.0707070707070707 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGCACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 539 199 0.999715576992287 1 0.999857788496144 NA NA 0.920620493942695 0.945026090242762 NA NA 0.079095083049592 0.0549739097572381 NA 0.932823292092729 NA 0.0670344964034151 NA FALSE NA 1 8.78 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 1 deleterious(0) probably_damaging(0.999) NA TAC A,G 8.236e-06 10:113597178 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 6.499179 0.9957 0.99817 0.487112 0.998757737035104 0 2.58648973238176e-31 FALSE 4.06111e-06 ENSE00001262635_018 ENSE00001262635 018 10 115356815 115356984 - 30 99 41 T C 115356939 2602 46 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAGGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597179 113597180 113597180 exon 5 0.0505050505050505 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAGGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 328 276 1 1 1 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0793795060573048 0.0549739097572381 NA 0.932823292092729 NA 0.0671767079072715 NA FALSE NA 1 2.537 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 36/41 COSM4011693 1 tolerated(0.05) possibly_damaging(0.755) NA CTT T,C 8.236e-06 10:113597180 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 missense_variant 4.224344 0.99193 0.98299 0.487112 0.997598201609195 0 2.58648973238176e-31 FALSE 4.06128e-06 ENSE00001262635_019 ENSE00001262635 019 10 115356815 115356984 - 30 99 41 A G 115356946 2603 39 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTACAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597186 113597187 113597187 upstr_intron -3 -0.0487804878048781 TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTACAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 130 1263 0.959567948695231 0.999969862353146 0.979768905524188 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0389474547525357 0.0549437721103841 NA 0.932823292092729 NA 0.0469456134314599 NA FALSE NA 0.173 -0.05 . splice_region_variant&intron_variant LOW NRAP HGNC 7988 ENST00000369360 35/40 rs111412276 1 NA TAT A,G 8.236e-06 10:113597187 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 splice_region_variant 1.160429 0.20746 0.0202 0.053691 0.655923163400714 0.384996 2.58648973238176e-31 FALSE 1.21853e-05 ENSE00001262635_020 ENSE00001262635 020 10 115356815 115356984 - 30 99 41 A G 115356955 2604 30 TTGGACTGTGTTTCATGAGAATCTTTGTCCTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597195 113597196 113597196 upstr_intron -12 -0.268292682926829 TTGGACTGTGTTTCATGAGAATCTTTGTCCTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 183 914 0.99749971576232 0.926107120540252 0.961803418151286 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0768792218196246 -0.0189189697025097 NA 0.932823292092729 NA 0.0289801260585574 NA FALSE NA 0.45 3.701 . intron_variant MODIFIER NRAP HGNC 7988 ENST00000369360 35/40 1 NA AAG A,G 8.238e-06 10:113597196 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 intron_variant 1.903081 0.59078 0.76867 0.053691 0.916517489783493 0.325063 2.58648973238176e-31 FALSE 8.12579e-06 ENSE00001262635_021 ENSE00001262635 021 10 115356815 115356984 - 30 99 41 A G 115356969 2605 16 TTGGACTGTGTTTCACGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597209 113597210 113597210 upstr_intron -26 -0.609756097560976 TTGGACTGTGTTTCACGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 10 141 0.995810548949701 0.995845857803543 0.995828203376622 NA NA 0.920620493942695 0.945026090242762 NA NA 0.0751900550070054 0.0508197675607808 NA 0.932823292092729 NA 0.0630049112838931 NA FALSE NA 0 0.191 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:113597210 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 intron_variant 1.630918 0.27661 0.11233 0.053691 0.846651257486781 0.242731 2.58648973238176e-31 FALSE 4.06511e-06 ENSE00001262635_022 ENSE00001262635 022 10 115356815 115356984 - 30 99 41 A T 115356969 2606 16 TTGGACTGTGTTTCAAGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597209 113597210 113597210 upstr_intron -26 -0.609756097560976 TTGGACTGTGTTTCAAGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 4983 221 0.852844461446821 0.99204535623028 0.92244490883855 NA NA 0.920620493942695 0.945026090242762 NA NA -0.0677760324958743 0.0470192659875177 NA 0.932823292092729 NA -0.0103783832541783 NA FALSE NA 0 0.191 NA NA NA NRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NRAP NA NA NA ENSG00000197893 ENSE00002504515 intron_variant 1.507454 0.33531 0.06798 0.053691 0.876461403830188 0.242731 2.58648973238176e-31 FALSE NA ENSE00001262635_023 ENSE00001262635 023 10 115356815 115356984 - 30 99 41 T C 115356970 2607 15 TTGGACTGTGTTTCGTGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC 113597055 113597225 113597210 113597211 113597211 upstr_intron -27 -0.634146341463415 TTGGACTGTGTTTCGTGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC TTGGACTGTGTTTCATGAGAATCTTTGTCTTTATCTTATAGACCAAGTACCGTAAAAAACCAGACAGTATCAAGTTCACCACAGTGGTTGACTCCCCAGACCTGGTTCATGCCAAGAACAGCTATATGCACTGCAATGAGGTGGGTCCTTTCTTGTCATTCATCCCGGGC mutant NA NA NA NA NA 103 169 0.903906218251121 1 0.95195310912556 NA NA 0.920620493942695 0.945026090242762 NA NA -0.0167142756915745 0.0549739097572381 NA 0.932823292092729 NA 0.0191298170328318 NA FALSE NA 0 -4.988 . intron_variant MODIFIER NRAP HGNC 7988 ENST00000369360 35/40 1 NA ATG T,C 8.236e-06 10:113597211 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002504515 intron_variant 1.1907 0.12064 0.00484 0.053691 0.68038313841476 0.242731 2.58648973238176e-31 FALSE 4.06537e-06 ENSE00001263226_000 ENSE00001263226 000 1 26075696 26075865 + 50 81 39 NA NA NA NA NA TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 NA NA NA NA NA NA TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG natural 184 257 0.973037692775123 0.914759869568366 0.943898781171745 1626 1067 0.864875663185557 0.98697878000342 0.925927221594488 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 0 0 0 0 0.943898781171745 0.925927221594488 0 0 0 FALSE FALSE NA NA NA NA NA MAN1C1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAN1C1 NA NA NA ENSG00000117643 ENSE00003495830 NA NA NA NA NA NA NA 0.0490480402547963 FALSE NA ENSE00001263226_002 ENSE00001263226 002 1 26075696 26075865 + 50 81 39 T C 26075718 765 23 TGCATCTTACAAGTGTCCCCACCGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749226 25749227 25749227 upstr_intron -28 -0.54 TGCATCTTACAAGTGTCCCCACCGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 214 307 1 1 1 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.135124336814443 0.0130212199965799 0.943898781171745 0.925927221594488 NA 0.0740727784055117 NA FALSE NA 0 0.33 . intron_variant MODIFIER MAN1C1 HGNC 19080 ENST00000374329 2/10 1 NA CTG T,C 2.472e-05 1:25749227 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 intron_variant 0.276287 0.1647 0.01744 0 0.689854369455104 0.119392 0.0490480402547963 FALSE 2.15074e-05 ENSE00001263226_005 ENSE00001263226 005 1 26075696 26075865 + 50 81 39 G A 26075749 768 54 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCAGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749257 25749258 25749258 exon 4 0.0493827160493827 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCAGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant 14 29 0.986253468339293 1 0.993126734169647 203 36 0.997727554299734 1 0.998863777149867 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 0.01321577556417 0.0852401304316336 0.132851891114177 0.0130212199965799 0.943898781171745 0.925927221594488 0.0492279529979018 0.0729365555553786 0.0237086025574768 FALSE FALSE 1 8.188 . missense_variant MODERATE MAN1C1 HGNC 19080 ENST00000374329 3/11 COSM184023 1 deleterious(0) possibly_damaging(0.583) NA CGG G,A 3.295e-05 1:25749258 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 missense_variant 6.902015 0.99257 0.97391 0.643511 0.999332371379418 0 0.0490480402547963 FALSE 3.29962e-05 ENSE00001263226_006 ENSE00001263226 006 1 26075696 26075865 + 50 81 39 A T 26075753 769 58 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGTAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749261 25749262 25749262 exon 8 0.0987654320987654 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGTAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 228 834 0.99981936310979 0.996311659365341 0.998065511237565 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.134943699924233 0.00933287936192062 0.943898781171745 0.925927221594488 NA 0.0721382896430769 NA FALSE NA 1 7.748 . missense_variant MODERATE MAN1C1 HGNC 19080 ENST00000374329 3/11 1 deleterious(0.04) benign(0.014) NA GAA A,T 1.647e-05 1:25749262 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 missense_variant 3.56893 0.99099 0.97296 0.643511 0.983720098897433 0 0.0490480402547963 FALSE 1.64575e-05 ENSE00001263226_007 ENSE00001263226 007 1 26075696 26075865 + 50 81 39 C A 26075756 770 61 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGAATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749264 25749265 25749265 exon 11 0.135802469135802 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGAATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant 64 58 0.941596025890559 0.901350474344306 0.921473250117433 63 220 0.933498799799229 1 0.966749399899614 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 -0.031441666884564 -0.0134093952240604 0.0686231366136721 0.0130212199965799 0.943898781171745 0.925927221594488 -0.0224255310543122 0.040822178305126 0.0632477093594382 FALSE FALSE 0.998 2.874 . missense_variant MODERATE MAN1C1 HGNC 19080 ENST00000374329 3/11 1 deleterious(0.04) probably_damaging(0.953) NA GCA C,A 8.237e-06 1:25749265 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 missense_variant 7.255608 0.98842 0.90121 0.643511 0.993323873422769 0 0.0490480402547963 FALSE NA ENSE00001263226_009 ENSE00001263226 009 1 26075696 26075865 + 50 81 39 G A 26075763 772 68 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTATTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749271 25749272 25749272 exon 18 0.222222222222222 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTATTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 639 216 0.984616355887422 0.955210185425542 0.969913270656482 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.119740692701865 -0.0317685945778781 0.943898781171745 0.925927221594488 NA 0.0439860490619935 NA FALSE NA 1 1.58 . synonymous_variant LOW MAN1C1 HGNC 19080 ENST00000374329 3/11 rs374595248 1 NA A:0.0005 A:0 TGT G,A 3.295e-05 1:25749272 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 synonymous_variant 1.527298 0.96909 0.75655 0.643511 0.727379111314664 0 0.0490480402547963 FALSE 2.05238e-05 ENSE00001263226_010 ENSE00001263226 010 1 26075696 26075865 + 50 81 39 G A 26075769 773 74 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAAGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749277 25749278 25749278 exon 24 0.296296296296296 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAAGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant 11 11 1 1 1 44 264 1 0.981497022680144 0.990748511340072 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 0.0269623072248768 0.0852401304316336 0.135124336814443 -0.00548175732327649 0.943898781171745 0.925927221594488 0.0561012188282552 0.0648212897455835 0.00872007091732829 FALSE FALSE 1 2.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:25749278 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 synonymous_variant 1.225993 0.96835 0.67949 0.643511 0.597745016668335 0 0.0490480402547963 FALSE 0.00121428 ENSE00001263226_011 ENSE00001263226 011 1 26075696 26075865 + 50 81 39 G T 26075769 774 74 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGATGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749277 25749278 25749278 exon 24 0.296296296296296 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGATGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant 150 168 0.891121042242463 0.85 0.870560521121231 1052 603 0.879776630940153 0.950244788315699 0.915010709627926 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 -0.0819166505326605 -0.0647598695683664 0.0149009677545968 -0.0367339916877212 0.943898781171745 0.925927221594488 -0.0733382600505135 -0.0109165119665622 0.0624217480839513 FALSE FALSE 1 2.054 NA NA NA MAN1C1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAN1C1 NA NA NA ENSG00000117643 ENSE00003495830 missense_variant 5.568603 0.97133 0.82853 0.643511 0.997821370844082 0 0.0490480402547963 FALSE 4.10229e-06 ENSE00001263226_012 ENSE00001263226 012 1 26075696 26075865 + 50 81 39 C T 26075779 775 84 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCTGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749287 25749288 25749288 exon 34 0.419753086419753 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCTGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 164 166 1 0.99720057792599 0.998600288962995 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.135124336814443 0.0102217979225702 0.943898781171745 0.925927221594488 NA 0.0726730673685068 NA FALSE NA 1 4.814 . missense_variant MODERATE MAN1C1 HGNC 19080 ENST00000374329 3/11 1 deleterious(0) probably_damaging(0.998) NA CCG C,T 3.295e-05 1:25749288 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 missense_variant 8.215106 0.99274 0.93419 0.643511 0.999296643454941 0 0.0490480402547963 FALSE NA ENSE00001263226_013 ENSE00001263226 013 1 26075696 26075865 + 50 81 39 G A 26075780 776 85 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCACTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749288 25749289 25749289 exon 35 0.432098765432099 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCACTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 563 98 0.99468258939037 0.996758575082042 0.995720582236206 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.129806926204814 0.00977979507862181 0.943898781171745 0.925927221594488 NA 0.0697933606417178 NA FALSE NA 1 8.188 . missense_variant MODERATE MAN1C1 HGNC 19080 ENST00000374329 3/11 COSM1195798 1 deleterious(0) probably_damaging(0.997) NA CGC G,A 1.647e-05 1:25749289 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 missense_variant 7.606738 0.99293 0.97484 0.643511 0.999432995630159 0 0.0490480402547963 FALSE 1.23145e-05 ENSE00001263226_015 ENSE00001263226 015 1 26075696 26075865 + 50 81 39 G A 26075789 778 94 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGAGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749297 25749298 25749298 exon -38 0.54320987654321 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGAGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 53 81 1 1 1 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.135124336814443 0.0130212199965799 0.943898781171745 0.925927221594488 NA 0.0740727784055117 NA FALSE NA 1 8.188 . missense_variant MODERATE MAN1C1 HGNC 19080 ENST00000374329 3/11 1 deleterious(0.02) probably_damaging(0.998) NA GGG G,A 1.647e-05 1:25749298 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 missense_variant 6.648208 0.99293 0.97484 0.643511 0.998088576600599 0 0.0490480402547963 FALSE NA ENSE00001263226_016 ENSE00001263226 016 1 26075696 26075865 + 50 81 39 G A 26075792 779 97 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGAACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749300 25749301 25749301 exon -35 0.580246913580247 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGAACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 76 363 1 0.999564069439596 0.999782034719798 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.135124336814443 0.0125852894361762 0.943898781171745 0.925927221594488 NA 0.0738548131253098 NA FALSE NA 1 8.188 . missense_variant MODERATE MAN1C1 HGNC 19080 ENST00000374329 3/11 1 deleterious(0) probably_damaging(0.999) NA GGA G,A 8.237e-06 1:25749301 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 missense_variant 6.666305 0.99293 0.97484 0.643511 0.998089514278822 0 0.0490480402547963 FALSE 4.1089e-06 ENSE00001263226_017 ENSE00001263226 017 1 26075696 26075865 + 50 81 39 C A 26075794 780 99 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGAATCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749302 25749303 25749303 exon -33 0.604938271604938 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGAATCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 340 248 0.999393226331191 0.983214213269908 0.991303719800549 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.134517563145634 -0.00376456673351222 0.943898781171745 0.925927221594488 NA 0.0653764982060609 NA FALSE NA 0.999 2.98 . missense_variant MODERATE MAN1C1 HGNC 19080 ENST00000374329 3/11 1 deleterious(0.02) probably_damaging(0.987) NA ACT C,A 8.237e-06 1:25749303 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 missense_variant 6.878199 0.98858 0.91842 0.643511 0.995683705671845 0 0.0490480402547963 FALSE 4.11255e-06 ENSE00001263226_018 ENSE00001263226 018 1 26075696 26075865 + 50 81 39 C T 26075799 781 104 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTTTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749307 25749308 25749308 exon -28 0.666666666666667 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTTTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 389 67 1 1 1 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.135124336814443 0.0130212199965799 0.943898781171745 0.925927221594488 NA 0.0740727784055117 NA FALSE NA 1 0.506 . synonymous_variant LOW MAN1C1 HGNC 19080 ENST00000374329 3/11 1 NA TCT C,T 8.237e-06 1:25749308 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 synonymous_variant 1.920116 0.97275 0.60968 0.643511 0.778835504591344 0 0.0490480402547963 FALSE 4.11662e-06 ENSE00001263226_019 ENSE00001263226 019 1 26075696 26075865 + 50 81 39 C T 26075812 782 117 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACTTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749320 25749321 25749321 exon -15 0.827160493827161 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACTTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 143 282 0.984280884507504 0.999049696750592 0.991665290629048 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.119405221321947 0.0120709167471723 0.943898781171745 0.925927221594488 NA 0.0657380690345598 NA FALSE NA 1 2.975 . synonymous_variant LOW MAN1C1 HGNC 19080 ENST00000374329 3/11 rs200880471 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 CCT C,T 1.647e-05 1:25749321 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 synonymous_variant 1.570641 0.99274 0.88589 0.706298 0.746553065547694 0 0.0490480402547963 FALSE NA ENSE00001263226_021 ENSE00001263226 021 1 26075696 26075865 + 50 81 39 T C 26075843 784 148 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCACGACCCCTGAACTGTCCAGGCTG 25749204 25749374 25749351 25749352 25749352 downstr_intron 17 1.44736842105263 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCACGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant NA NA NA NA NA 37 380 0.988318906978881 1 0.99415945348944 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 NA NA 0.123443243793324 0.0130212199965799 0.943898781171745 0.925927221594488 NA 0.068232231894952 NA FALSE NA 0 -0.832 . intron_variant MODIFIER MAN1C1 HGNC 19080 ENST00000374329 3/10 1 NA ATG T,C 8.243e-06 1:25749352 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 intron_variant -0.331787 0.13144 0.00622 0.06567 0.340882657429561 0.0549536 0.0490480402547963 FALSE 2.59646e-05 ENSE00001263226_022 ENSE00001263226 022 1 26075696 26075865 + 50 81 39 C T 26075847 785 152 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACTCCTGAACTGTCCAGGCTG 25749204 25749374 25749355 25749356 25749356 downstr_intron 21 1.55263157894737 TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACTCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG mutant 11 14 0.999193815245069 0.999612118464542 0.999402966854805 493 267 0.995861545853954 0.999857338103713 0.997859441978834 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 0.0261561224699455 0.0848522488961753 0.130985882668398 0.012878558100293 0.943898781171745 0.925927221594488 0.0555041856830604 0.0719322203843453 0.0164280347012849 FALSE FALSE 0 0.412 . intron_variant MODIFIER MAN1C1 HGNC 19080 ENST00000374329 3/10 1 NA CCC C,T 8.244e-06 1:25749356 MAN1C1 HGNC Symbol protein_coding 168739 ENSG00000117643 ENSE00003495830 intron_variant 0.146141 0.19449 0.03711 0.06567 0.549343361373951 0.0549536 0.0490480402547963 FALSE 4.38685e-06 ENSE00001263226_BRK ENSE00001263226 BRK 1 26075696 26075865 + 50 81 39 A,G; T,T NA NA NA TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCTTAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGCCGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG 25749204 25749374 NA NA NA NA NA NA TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCTTAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGCCGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG TGCATCTTACAAGTGTCCCCACTGTCCCCCTCCTTCTTTCTGTCCTGCAGAGCGGAGAAGCATCCTTGTTTGAGGTGAACATCCGCTACATCGGGGGACTCCTCTCAGCCTTCTACCTGACAGGAGAAGAGGTGGGTTGGCCTTTCATGACCCCTGAACTGTCCAGGCTG control 173 285 0 0 0 NA NA NA NA NA 0.973037692775123 0.914759869568366 0.864875663185557 0.98697878000342 -0.973037692775123 -0.914759869568366 NA NA 0.943898781171745 0.925927221594488 -0.943898781171745 NA NA NA TRUE NA NA NA NA NA MAN1C1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAN1C1 NA NA NA ENSG00000117643 ENSE00003495830 NA NA NA NA NA NA NA 0.0490480402547963 FALSE NA ENSE00001263408_000 ENSE00001263408 000 X 79940919 79941088 - 42 75 53 NA NA NA NA NA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 NA NA NA NA NA NA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA natural 76 67 0.999308453529848 0.999332863219099 0.999320658374474 2189 3514 0.924677862248547 0.940192623563936 0.932435242906241 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 0 0 0 0 0.999320658374474 0.932435242906241 0 0 0 FALSE FALSE NA NA NA NA NA BRWD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRWD3 NA NA NA ENSG00000165288 ENSE00003660051 NA NA NA NA NA NA NA 0.999999995988904 TRUE NA ENSE00001263408_003 ENSE00001263408 003 X 79940919 79941088 - 42 75 53 T A 79940973 738 116 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCTTCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 80685473 80685474 80685474 exon -13 0.84 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCTTCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA mutant NA NA NA NA NA 25 1209 1 0.991302603292034 0.995651301646017 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 NA NA 0.0753221377514535 0.0511099797280977 0.999320658374474 0.932435242906241 NA 0.0632160587397756 NA FALSE NA 0.972 0.27 rs146297684 synonymous_variant LOW BRWD3 HGNC 17342 ENST00000373275 36/41 rs146297684 1 NA A:0 A:0.0001 ATG T,A 8.244e-06 X:80685474 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003660051 synonymous_variant 1.241826 0.53089 0.38518 0 0.623814741252168 0 0.999999995988904 TRUE NA ENSE00001263408_004 ENSE00001263408 004 X 79940919 79941088 - 42 75 53 T G 79940979 739 110 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACACGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 80685479 80685480 80685480 exon -19 0.76 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACACGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA mutant NA NA NA NA NA 933 1961 0.99983571713731 0.999356992351138 0.999596354744224 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 NA NA 0.0751578548887638 0.0591643687872022 0.999320658374474 0.932435242906241 NA 0.067161111837983 NA FALSE NA 1 0.952 . missense_variant MODERATE BRWD3 HGNC 17342 ENST00000373275 36/41 1 tolerated_low_confidence(0.51) benign(0.001) NA CTT T,G 1.649e-05 X:80685480 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003660051 missense_variant 1.892797 0.93272 0.55272 0 0.916540675038499 0 0.999999995988904 TRUE 1.69088e-05 ENSE00001263408_005 ENSE00001263408 005 X 79940919 79941088 - 42 75 53 T C 79940987 740 102 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAGGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 80685487 80685488 80685488 exon -27 0.653333333333333 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAGGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA mutant NA NA NA NA NA 409 504 0.960579687533041 0.953230950366696 0.956905318949869 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 NA NA 0.0359018252844949 0.0130383268027598 0.999320658374474 0.932435242906241 NA 0.0244700760436274 NA FALSE NA 0.997 0.335 . missense_variant MODERATE BRWD3 HGNC 17342 ENST00000373275 36/41 1 tolerated_low_confidence(0.26) benign(0.018) NA CTT T,C 1.649e-05 X:80685488 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003660051 missense_variant 1.860289 0.93276 0.49908 0 0.954670158756974 0 0.999999995988904 TRUE NA ENSE00001263408_006 ENSE00001263408 006 X 79940919 79941088 - 42 75 53 T A 79941019 741 70 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGTGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 80685519 80685520 80685520 exon 17 0.226666666666667 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGTGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA mutant NA NA NA NA NA 276 136 0.998196856996182 0.955681659640627 0.976939258318405 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 NA NA 0.0735189947476352 0.0154890360766912 0.999320658374474 0.932435242906241 NA 0.0445040154121632 NA FALSE NA 0.943 1.208 . missense_variant MODERATE BRWD3 HGNC 17342 ENST00000373275 36/41 1 tolerated_low_confidence(0.26) benign(0.001) NA CTC T,A 8.246e-06 X:80685520 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003660051 missense_variant 2.575742 0.69025 0.47181 0 0.978350684642033 0 0.999999995988904 TRUE NA ENSE00001263408_007 ENSE00001263408 007 X 79940919 79941088 - 42 75 53 A C 79941033 742 56 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGGCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 80685533 80685534 80685534 exon 3 0.04 TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGGCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA mutant NA NA NA NA NA 345 1518 1 0.994743172246247 0.997371586123123 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 NA NA 0.0753221377514535 0.0545505486823104 0.999320658374474 0.932435242906241 NA 0.0649363432168819 NA FALSE NA 0.01 -0.587 . splice_region_variant&synonymous_variant LOW BRWD3 HGNC 17342 ENST00000373275 36/41 1 NA GAC A,C 3.299e-05 X:80685534 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003660051 splice_region_variant -0.466518 0.13452 0.01715 0 0.49077282273282 0 0.999999995988904 TRUE 3.40795e-05 ENSE00001263408_008 ENSE00001263408 008 X 79940919 79941088 - 42 75 53 T C 79941062 743 27 TGATATTTTGTTATAGTTGTCTGGAAGCCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 80685562 80685563 80685563 upstr_intron -27 -0.490566037735849 TGATATTTTGTTATAGTTGTCTGGAAGCCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA mutant NA NA NA NA NA 511 2000 0.966354444906153 0.942252725116301 0.954303585011227 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 NA NA 0.0416765826576064 0.00206010155236447 0.999320658374474 0.932435242906241 NA 0.0218683421049854 NA FALSE NA 0.086 1.965 . intron_variant MODIFIER BRWD3 HGNC 17342 ENST00000373275 35/40 1 NA GTT T,C 1.652e-05 X:80685563 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003660051 intron_variant 0.381777 0.19178 0.10967 0 0.76097768904248 0.0455939 0.999999995988904 TRUE 1.18124e-05 ENSE00001263408_009 ENSE00001263408 009 X 79940919 79941088 - 42 75 53 C T 79941073 744 16 TGATATTTTGTTATAATTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 80685573 80685574 80685574 upstr_intron -38 -0.69811320754717 TGATATTTTGTTATAATTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA mutant NA NA NA NA NA 344 650 0.991441690407336 0.999941429785263 0.9956915600963 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 NA NA 0.0667638281587899 0.0597488062213265 0.999320658374474 0.932435242906241 NA 0.0632563171900582 NA FALSE NA 0.004 1.871 . intron_variant MODIFIER BRWD3 HGNC 17342 ENST00000373275 35/40 rs377719481 1 NA T:0.0003 T:0 ACT C,T 8.267e-06 X:80685574 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003660051 intron_variant 0.442252 0.29993 0.10138 0 0.587122077536525 0.878829 0.999999995988904 TRUE 1.22582e-05 ENSE00001263408_BRK ENSE00001263408 BRK X 79940919 79941088 - 42 75 53 A,G; T,T NA NA NA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATTTGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGCCAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA 80685419 80685589 NA NA NA NA NA NA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATTTGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGCCAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA TGATATTTTGTTATAGTTGTCTGGAAACCAGTATATGTTCTTCACCCTAATAGGGTCATCAGGAGCAAGAGGGAGAATCCTCAGAGTCTGTTGTTCCAGAAAGACAACAAGATTCATCTCTTTCTGAGGTAGGCCTGGTAGTCTCTTAAAAGACATATTGATTGTTTTTA control NA NA NA NA NA 462 534 0.0894759004107563 0 0.0447379502053782 0.999308453529848 0.999332863219099 0.924677862248547 0.940192623563936 NA NA -0.83520196183779 -0.940192623563936 0.999320658374474 0.932435242906241 NA -0.887697292700863 NA TRUE NA NA NA NA NA NA BRWD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRWD3 NA NA NA ENSG00000165288 ENSE00003660051 NA NA NA NA NA NA NA 0.999999995988904 TRUE NA ENSE00001263608_000 ENSE00001263608 000 9 117028782 117028951 + 63 54 53 NA NA NA NA NA CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC 114266501 114266671 NA NA NA NA NA NA CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC natural 617 1176 0.853513040736169 0.847167528759196 0.850340284747683 1229 1431 0.669132738224622 0.799185734060703 0.734159236142663 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 0 0 0 0 0.850340284747683 0.734159236142663 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003642474 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00001263608_001 ENSE00001263608 001 9 117028782 117028951 + 63 54 53 G A 117028802 1913 21 CAGATCCCAAAGAGGGCCCAAGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC 114266501 114266671 114266521 114266522 114266522 upstr_intron -43 -0.666666666666667 CAGATCCCAAAGAGGGCCCAAGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC mutant NA NA NA NA NA 396 31 0.828743335253757 0.8 0.814371667626879 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 NA NA 0.159610597029135 0.000814265939296899 0.850340284747683 0.734159236142663 NA 0.0802124314842161 NA FALSE NA 0.002 0.362 . upstream_gene_variant MODIFIER COL27A1 HGNC 22986 ENST00000477421 1 NA AGG G,A 8.236e-06 9:114266522 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003642474 intron_variant 0.726527 0.64091 0.09758 0.088506 0.76497745380223 0.157901 0.999999360727437 TRUE 4.11167e-06 ENSE00001263608_006 ENSE00001263608 006 9 117028782 117028951 + 63 54 53 G A 117028820 1918 39 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTATCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC 114266501 114266671 114266539 114266540 114266540 upstr_intron -25 -0.380952380952381 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTATCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC mutant NA NA NA NA NA 188 33 0.796403249045044 0.8 0.798201624522522 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 NA NA 0.127270510820422 0.000814265939296899 0.850340284747683 0.734159236142663 NA 0.0640423883798595 NA FALSE NA 0.013 0.408 . upstream_gene_variant MODIFIER COL27A1 HGNC 22986 ENST00000477421 1 NA TGT G,A 3.295e-05 9:114266540 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003642474 intron_variant 1.299155 0.17152 0.02571 0.088506 0.653641420872084 0.226608 0.999999360727437 TRUE 1.62775e-05 ENSE00001263608_008 ENSE00001263608 008 9 117028782 117028951 + 63 54 53 G A 117028832 1920 51 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTATCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC 114266501 114266671 114266551 114266552 114266552 upstr_intron -13 -0.19047619047619 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTATCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC mutant NA NA NA NA NA 35 115 0.8 0.8 0.8 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 NA NA 0.130867261775378 0.000814265939296899 0.850340284747683 0.734159236142663 NA 0.0658407638573375 NA FALSE NA 0.991 0.248 . upstream_gene_variant MODIFIER COL27A1 HGNC 22986 ENST00000477421 1 NA TGT G,A 8.236e-06 9:114266552 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003642474 intron_variant 1.912939 0.92641 0.64146 0.088506 0.607253896803244 0.457721 0.999999360727437 TRUE NA ENSE00001263608_017 ENSE00001263608 017 9 117028782 117028951 + 63 54 53 G C 117028891 1929 110 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGCACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC 114266501 114266671 114266610 114266611 114266611 exon -8 0.87037037037037 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGCACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC mutant NA NA NA NA NA 1197 50 0.948032107129698 0.805031808994767 0.876531958062232 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 NA NA 0.278899368905076 0.00584607493406342 0.850340284747683 0.734159236142663 NA 0.14237272191957 NA FALSE NA 1 3.973 . upstream_gene_variant MODIFIER COL27A1 HGNC 22986 ENST00000477421 1 NA GGA G,C 8.236e-06 9:114266611 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003642474 missense_variant 5.749554 0.97922 0.86643 0.6512 0.994455657850444 0 0.999999360727437 TRUE 4.06256e-06 ENSE00001263608_018 ENSE00001263608 018 9 117028782 117028951 + 63 54 53 G T 117028911 1930 130 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGATACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC 114266501 114266671 114266630 114266631 114266631 downstr_intron 13 1.25 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGATACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC mutant NA NA NA NA NA 595 33 0.85700005959298 0.830871479684494 0.843935769638737 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 NA NA 0.187867321368358 0.0316857456237913 0.850340284747683 0.734159236142663 NA 0.109776533496074 NA FALSE NA 0 -0.731 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114266631 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003642474 intron_variant 0.998022 0.17257 0.03366 0.088506 0.757301874491382 0.212698 0.999999360727437 TRUE 4.06405e-06 ENSE00001263608_023 ENSE00001263608 023 9 117028782 117028951 + 63 54 53 G A 117028922 1935 141 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCATCCCATGATGCTGCTGGGGATGTATCAGC 114266501 114266671 114266641 114266642 114266642 downstr_intron 24 1.46153846153846 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCATCCCATGATGCTGCTGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC mutant NA NA NA NA NA 25 195 1 0.8 0.9 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 NA NA 0.330867261775378 0.000814265939296899 0.850340284747683 0.734159236142663 NA 0.165840763857337 NA FALSE NA 0 -0.495 . upstream_gene_variant MODIFIER COL27A1 HGNC 22986 ENST00000477421 1 NA CGT G,A 1.647e-05 9:114266642 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003642474 intron_variant -0.249479 0.12694 0.03232 0.106106 0.273179522002887 0.0894644 0.999999360727437 TRUE 8.1485e-06 ENSE00001263608_025 ENSE00001263608 025 9 117028782 117028951 + 63 54 53 T G 117028937 1937 156 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCGGGGGATGTATCAGC 114266501 114266671 114266656 114266657 114266657 downstr_intron 39 1.75 CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCGGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC mutant NA NA NA NA NA 93 18 0.977159776424476 0.95 0.963579888212238 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 NA NA 0.308027038199854 0.150814265939297 0.850340284747683 0.734159236142663 NA 0.229420652069575 NA FALSE NA 0 -0.906 . upstream_gene_variant MODIFIER COL27A1 HGNC 22986 ENST00000477421 1 NA CTG T,G 8.237e-06 9:114266657 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003642474 intron_variant 0.154407 0.13727 0.04204 0.106106 0.503760982679649 0.0873027 0.999999360727437 TRUE 4.07388e-06 ENSE00001263608_BRK ENSE00001263608 BRK 9 117028782 117028951 + 63 54 53 A,G; T,T NA NA NA CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCTTGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGCCGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC 114266501 114266671 NA NA NA NA NA NA CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCTTGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGCCGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC CAGATCCCAAAGAGGGCCCAGGCTGACCTCTCCCAACTGTCTGTGTGTCTGTCTGTCTTCCAGGGCCCTCAGGGACCCCAGGGGCCAATTGGGCCTCCAGGAGAGATGGGACCCAAGGTGAGTGTGAGAGACCCTTATTCGTCCCATGATGCTGCTGGGGATGTATCAGC control 29 18 0 0 0 NA NA NA NA NA 0.853513040736169 0.847167528759196 0.669132738224622 0.799185734060703 -0.853513040736169 -0.847167528759196 NA NA 0.850340284747683 0.734159236142663 -0.850340284747683 NA NA NA TRUE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003642474 NA NA NA NA NA NA NA 0.999999360727437 TRUE NA ENSE00001264168_000 ENSE00001264168 000 9 37349312 37349481 + 42 96 32 NA NA NA NA NA ATGCTTCATGCCCAAATGTCACTCAAACTTACGTGTCCATAATGGCCTTTTTGCGCGCAGTGATAGCAATATGCTAAGGCTGATGGTCTTGAAGGGGTCTTCGGCTTTTTGGGTGGTCCAGGTTTGGTCTGCAACATGAATATTTGTGAGGGTTTGTTGATGTTAGAAGA 37349314 37349484 NA NA NA NA NA NA TCTTCTAACATCAACAAACCCTCACAAATATTCATGTTGCAGACCAAACCTGGACCACCCAAAAAGCCGAAGACCCCTTCAAGACCATCAGCCTTAGCATATTGCTATCACTGCGCGCAAAAAGGCCATTATGGACACGTAAGTTTGAGTGACATTTGGGCATGAAGCAT TCTTCTAACATCAACAAACCCTCACAAATATTCATGTTGCAGACCAAACCTGGACCACCCAAAAAGCCGAAGACCCCTTCAAGACCATCAGCCTTAGCATATTGCTATCACTGCGCGCAAAAAGGCCATTATGGACACGTAAGTTTGAGTGACATTTGGGCATGAAGCAT natural NA NA NA NA NA 1509 1787 0.978921060020631 0.963128646569809 0.97102485329522 NA NA 0.978921060020631 0.963128646569809 NA NA 0 0 NA 0.97102485329522 NA 0 NA FALSE NA NA NA NA NA NA ZCCHC7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZCCHC7 NA NA NA ENSG00000147905 ENSE00003587848 NA NA NA NA NA NA NA 3.37485219287985e-09 FALSE NA ENSE00001264168_011 ENSE00001264168 011 9 37349312 37349481 + 42 96 32 A G 37349401 493 90 ATGCTTCATGCCCAAATGTCACTCAAACTTACGTGTCCATAATGGCCTTTTTGCGCGCAGTGATAGCAATATGCTAAGGCCGATGGTCTTGAAGGGGTCTTCGGCTTTTTGGGTGGTCCAGGTTTGGTCTGCAACATGAATATTTGTGAGGGTTTGTTGATGTTAGAAGA 37349314 37349484 37349403 37349404 37349404 exon 48 0.5 TCTTCTAACATCAACAAACCCTCACAAATATTCATGTTGCAGACCAAACCTGGACCACCCAAAAAGCCGAAGACCCCTTCAAGACCATCGGCCTTAGCATATTGCTATCACTGCGCGCAAAAAGGCCATTATGGACACGTAAGTTTGAGTGACATTTGGGCATGAAGCAT TCTTCTAACATCAACAAACCCTCACAAATATTCATGTTGCAGACCAAACCTGGACCACCCAAAAAGCCGAAGACCCCTTCAAGACCATCAGCCTTAGCATATTGCTATCACTGCGCGCAAAAAGGCCATTATGGACACGTAAGTTTGAGTGACATTTGGGCATGAAGCAT mutant NA NA NA NA NA 84 25 1 1 1 NA NA 0.978921060020631 0.963128646569809 NA NA 0.0210789399793687 0.0368713534301908 NA 0.97102485329522 NA 0.0289751467047797 NA FALSE NA 0.06 0.187 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZCCHC7 HGNC 26209 ENST00000497924 3/5 1 NA CAG A,G 1.647e-05 9:37349404 ZCCHC7 HGNC Symbol protein_coding 237610 ENSG00000147905 ENSE00003587848 synonymous_variant 0.451705 0.96105 0.09132 0.732398 0.65061970497966 0 3.37485219287985e-09 FALSE 1.21884e-05 ENSE00001264168_017 ENSE00001264168 017 9 37349312 37349481 + 42 96 32 C T 37349425 499 114 ATGCTTCATGCCCAAATGTCACTCAAACTTACGTGTCCATAATGGCCTTTTTGCGCACAGTGATAGCAATATGCTAAGGCTGATGGTCTTGAAGGGGTCTTCGGCTTTTTGGGTGGTCCAGGTTTGGTCTGCAACATGAATATTTGTGAGGGTTTGTTGATGTTAGAAGA 37349314 37349484 37349427 37349428 37349428 exon -25 0.75 TCTTCTAACATCAACAAACCCTCACAAATATTCATGTTGCAGACCAAACCTGGACCACCCAAAAAGCCGAAGACCCCTTCAAGACCATCAGCCTTAGCATATTGCTATCACTGTGCGCAAAAAGGCCATTATGGACACGTAAGTTTGAGTGACATTTGGGCATGAAGCAT TCTTCTAACATCAACAAACCCTCACAAATATTCATGTTGCAGACCAAACCTGGACCACCCAAAAAGCCGAAGACCCCTTCAAGACCATCAGCCTTAGCATATTGCTATCACTGCGCGCAAAAAGGCCATTATGGACACGTAAGTTTGAGTGACATTTGGGCATGAAGCAT mutant NA NA NA NA NA 188 90 0.995683524911145 0.999576023075661 0.997629773993403 NA NA 0.978921060020631 0.963128646569809 NA NA 0.0167624648905138 0.0364473765058517 NA 0.97102485329522 NA 0.0266049206981828 NA FALSE NA 0.015 -1.685 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZCCHC7 HGNC 26209 ENST00000497924 3/5 rs373967317 1 NA T:0 T:0.0001 GCG C,T 3.295e-05 9:37349428 ZCCHC7 HGNC Symbol protein_coding 237610 ENSG00000147905 ENSE00003587848 synonymous_variant 0.77476 0.1434 0.00531 0.732398 0.521394173756869 0 3.37485219287985e-09 FALSE 4.47169e-05 ENSE00001264168_026 ENSE00001264168 026 9 37349312 37349481 + 42 96 32 G C 37349454 508 143 ATGCTTCATGCCCAAATGTCACTCAAAGTTACGTGTCCATAATGGCCTTTTTGCGCGCAGTGATAGCAATATGCTAAGGCTGATGGTCTTGAAGGGGTCTTCGGCTTTTTGGGTGGTCCAGGTTTGGTCTGCAACATGAATATTTGTGAGGGTTTGTTGATGTTAGAAGA 37349314 37349484 37349456 37349457 37349457 downstr_intron 5 1.16129032258065 TCTTCTAACATCAACAAACCCTCACAAATATTCATGTTGCAGACCAAACCTGGACCACCCAAAAAGCCGAAGACCCCTTCAAGACCATCAGCCTTAGCATATTGCTATCACTGCGCGCAAAAAGGCCATTATGGACACGTAACTTTGAGTGACATTTGGGCATGAAGCAT TCTTCTAACATCAACAAACCCTCACAAATATTCATGTTGCAGACCAAACCTGGACCACCCAAAAAGCCGAAGACCCCTTCAAGACCATCAGCCTTAGCATATTGCTATCACTGCGCGCAAAAAGGCCATTATGGACACGTAAGTTTGAGTGACATTTGGGCATGAAGCAT mutant NA NA NA NA NA 13 311 0 0.001177310827589 0.000588655413794501 NA NA 0.978921060020631 0.963128646569809 NA NA -0.978921060020631 -0.96195133574222 NA 0.97102485329522 NA -0.970436197881426 NA TRUE NA 1 6.28 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ZCCHC7 HGNC 26209 ENST00000497924 3/4 1 NA AGT G,C 8.236e-06 9:37349457 ZCCHC7 HGNC Symbol protein_coding 237610 ENSG00000147905 ENSE00003587848 splice_region_variant 1.963312 0.99015 0.97019 0.156188 0.979987491407234 0.984557 3.37485219287985e-09 FALSE 4.07691e-06 ENSE00001264396_000 ENSE00001264396 000 11 12270672 12270841 + 59 63 48 NA NA NA NA NA CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 NA NA NA NA NA NA AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG natural 398 649 0.851542221138334 0.838587309021496 0.845064765079915 12016 12142 0.922948085126518 0.944228409392618 0.933588247259568 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 0 0 0 0 0.845064765079915 0.933588247259568 0 0 0 FALSE FALSE NA NA NA NA NA MICAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MICAL2 NA NA NA ENSG00000133816 ENSE00003641105 NA NA NA NA NA NA NA 0.132223746243123 FALSE NA ENSE00001264396_001 ENSE00001264396 001 11 12270672 12270841 + 59 63 48 T C 12270699 448 28 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTGGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249151 12249152 12249152 upstr_intron -32 -0.525423728813559 AGAATTCGGAAAGAAAGCTTATTTACCCAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 199 225 0.85 0.85 0.85 NA NA NA NA NA 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785043 NA NA 0.845064765079915 0.933588247259568 0.0049352349200853 NA NA NA FALSE 0.002 0.523 . intron_variant MODIFIER MICAL2 HGNC 24693 ENST00000379612 15/18 1 NA CTA T,C 8.237e-06 11:12249152 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 intron_variant 0.945162 0.21088 0.07967 0.0869 0.831400808000218 0.173999 0.132223746243123 FALSE NA ENSE00001264396_002 ENSE00001264396 002 11 12270672 12270841 + 59 63 48 T G 12270710 449 39 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCACCATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249162 12249163 12249163 upstr_intron -21 -0.338983050847458 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGGTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 231 107 0 0 0 1883 5400 0.00958109769832771 0.0140035328188119 0.0117923152585698 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.851542221138334 -0.838587309021496 -0.91336698742819 -0.930224876573806 0.845064765079915 0.933588247259568 -0.845064765079915 -0.921795932000998 0.0767311669210837 TRUE TRUE 0 0.024 . intron_variant MODIFIER MICAL2 HGNC 24693 ENST00000379612 15/18 rs574392521 1 NA GTT T,G 8.236e-06 11:12249163 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 intron_variant 1.609772 0.18976 0.10953 0.0869 0.824156958585285 0.214815 0.132223746243123 FALSE 4.12205e-06 ENSE00001264396_003 ENSE00001264396 003 11 12270672 12270841 + 59 63 48 T C 12270711 450 40 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCGACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249163 12249164 12249164 upstr_intron -20 -0.322033898305085 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTCGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 101 165 0.85 0.85 0.85 774 670 0.85489820259648 0.928912892373153 0.891905547484816 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785043 -0.0680498825300385 -0.0153155170194652 0.845064765079915 0.933588247259568 0.0049352349200853 -0.0416826997747519 0.0466179346948372 FALSE FALSE 0 -0.963 rs189018430 intron_variant MODIFIER MICAL2 HGNC 24693 ENST00000379612 15/18 rs189018430 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0016 C:0.0002 TTG T,C 0.0001318 11:12249164 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 intron_variant 1.097008 0.14885 0.01707 0.0869 0.809059800855352 0.208962 0.132223746243123 FALSE 9.06701e-05 ENSE00001264396_004 ENSE00001264396 004 11 12270672 12270841 + 59 63 48 C T 12270715 451 44 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGAATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249167 12249168 12249168 upstr_intron -16 -0.254237288135593 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATTCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant NA NA NA NA NA 462 2248 0.99982171084168 0.90914731628748 0.95448451356458 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 NA NA 0.0768736257151615 -0.0350810931051383 0.845064765079915 0.933588247259568 NA 0.0208962663050116 NA FALSE NA 0.007 0.006 . intron_variant MODIFIER MICAL2 HGNC 24693 ENST00000379612 15/18 1 NA TCC C,T 8.236e-06 11:12249168 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 intron_variant 1.546895 0.15645 5e-04 0.0869 0.747437865537599 0.146593 0.132223746243123 FALSE 4.11675e-06 ENSE00001264396_005 ENSE00001264396 005 11 12270672 12270841 + 59 63 48 C T 12270716 452 45 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGAGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249168 12249169 12249169 upstr_intron -15 -0.23728813559322 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCTCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 12 27 0.998396249949082 1 0.999198124974541 981 313 0.99995804212661 1 0.999979021063305 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 0.146854028810749 0.161412690978504 0.0770099570000915 0.0557715906073816 0.845064765079915 0.933588247259568 0.154133359894627 0.0663907738037365 0.08774258609089 FALSE FALSE 0.009 0.299 . intron_variant MODIFIER MICAL2 HGNC 24693 ENST00000379612 15/18 1 NA CCC C,T 8.236e-06 11:12249169 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 intron_variant 1.838892 0.34667 0.10974 0.0869 0.820024793799268 0.207322 0.132223746243123 FALSE 1.2342e-05 ENSE00001264396_006 ENSE00001264396 006 11 12270672 12270841 + 59 63 48 C G 12270719 453 48 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGACAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249171 12249172 12249172 upstr_intron -12 -0.186440677966102 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTGTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 67 200 0.841775430955896 0.85 0.845887715477948 NA NA NA NA NA 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00976679018243798 0.0114126909785043 NA NA 0.845064765079915 0.933588247259568 0.000822950398033151 NA NA NA FALSE 0.411 0.009 . intron_variant MODIFIER MICAL2 HGNC 24693 ENST00000379612 15/18 1 NA TCT C,G 1.647e-05 11:12249172 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 intron_variant 1.753322 0.20962 0.06895 0.0869 0.852748517670724 0.217081 0.132223746243123 FALSE 1.6436e-05 ENSE00001264396_007 ENSE00001264396 007 11 12270672 12270841 + 59 63 48 A G 12270732 454 61 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTCCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249184 12249185 12249185 exon 2 0.0317460317460317 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGGAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 124 297 0.845566938839052 0.85 0.847783469419526 NA NA NA NA NA 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00597528229928213 0.0114126909785043 NA NA 0.845064765079915 0.933588247259568 0.00271870433961108 NA NA NA FALSE 0.002 0.001 . missense_variant&splice_region_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 1 tolerated_low_confidence(0.15) benign(0.024) NA GAA A,G 8.236e-06 11:12249185 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 1.535516 0.23417 0.03919 0.645754 0.964730323451051 0 0.132223746243123 FALSE 1.23144e-05 ENSE00001264396_008 ENSE00001264396 008 11 12270672 12270841 + 59 63 48 A G 12270735 455 64 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCCTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249187 12249188 12249188 exon 5 0.0793650793650794 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAGGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 38 41 0.85 0.85 0.85 NA NA NA NA NA 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785043 NA NA 0.845064765079915 0.933588247259568 0.0049352349200853 NA NA NA FALSE 0.005 1.08 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 rs539876937 1 tolerated_low_confidence(1) benign(0.001) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAG A,G 8.236e-06 11:12249188 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 0.509047 0.19939 0.098 0.645754 0.773728936021731 0 0.132223746243123 FALSE 4.10435e-06 ENSE00001264396_009 ENSE00001264396 009 11 12270672 12270841 + 59 63 48 G T 12270736 456 65 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTATTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249188 12249189 12249189 exon 6 0.0952380952380952 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAATAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 1222 162 0 0 0 3619 2103 0.0195946540379027 0.00744026095476482 0.0135174574963337 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.851542221138334 -0.838587309021496 -0.903353431088615 -0.936788148437854 0.845064765079915 0.933588247259568 -0.845064765079915 -0.920070789763235 0.0750060246833198 TRUE TRUE 0.004 0.758 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 1 tolerated_low_confidence(0.24) benign(0.001) NA AGA G,T 1.647e-05 11:12249189 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 1.633342 0.22718 0.0392 0.645754 0.977468957194213 0 0.132223746243123 FALSE 2.05224e-05 ENSE00001264396_010 ENSE00001264396 010 11 12270672 12270841 + 59 63 48 T G 12270740 457 69 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGCCTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249192 12249193 12249193 exon 10 0.158730158730159 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGGCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 825 1347 0.849335319690361 0.840127702126267 0.844731510908314 416 3166 0.794888745828468 0.842553921688997 0.818721333758732 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00220690144797286 0.00154039310477105 -0.12805933929805 -0.101674487703621 0.845064765079915 0.933588247259568 -0.000333254171600905 -0.114866913500836 0.114533659329235 FALSE FALSE 0 -0.378 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 1 tolerated_low_confidence(0.83) benign(0) NA GTC T,G 8.236e-06 11:12249193 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant -0.331446 0.15621 0.04606 0.645754 0.342265570326528 0 0.132223746243123 FALSE 4.10421e-06 ENSE00001264396_011 ENSE00001264396 011 11 12270672 12270841 + 59 63 48 G C 12270749 458 78 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCGTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249201 12249202 12249202 exon 19 0.301587301587302 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCACGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant NA NA NA NA NA 1976 1157 0.997792457817331 0.99450044309278 0.996146450455055 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 NA NA 0.0748443726908133 0.0502720337001612 0.845064765079915 0.933588247259568 NA 0.0625582031954873 NA FALSE NA 0.001 0.576 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 1 tolerated_low_confidence(0.49) benign(0) NA AGG G,C 1.647e-05 11:12249202 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 1.120272 0.22085 0.11493 0.645754 0.957590455794698 0 0.132223746243123 FALSE 8.20749e-06 ENSE00001264396_012 ENSE00001264396 012 11 12270672 12270841 + 59 63 48 G T 12270750 459 79 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACACTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249202 12249203 12249203 exon 20 0.317460317460317 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGTGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant NA NA NA NA NA 342 1594 0.991000947945555 0.936945400399465 0.96397317417251 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 NA NA 0.0680528628190368 -0.00728300899315337 0.845064765079915 0.933588247259568 NA 0.0303849269129417 NA FALSE NA 0 -0.496 NA NA NA MICAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:12249203 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 0.567801 0.15417 0.04271 0.645754 0.868128265678318 0 0.132223746243123 FALSE 4.10418e-06 ENSE00001264396_014 ENSE00001264396 014 11 12270672 12270841 + 59 63 48 T C 12270753 461 82 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGGACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249205 12249206 12249206 exon 23 0.365079365079365 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTCCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 102 150 0.85 0.85 0.85 449 2753 0.868222620568518 0.886796025641968 0.877509323105243 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785043 -0.0547254645580004 -0.0574323837506501 0.845064765079915 0.933588247259568 0.0049352349200853 -0.0560789241543252 0.0610141590744105 FALSE FALSE 0 0.064 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 rs573224443 1 tolerated_low_confidence(0.48) benign(0) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTC T,C 8.237e-06 11:12249206 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant -0.106989 0.11847 0.02901 0.645754 0.65036013113089 0 0.132223746243123 FALSE 4.10472e-06 ENSE00001264396_015 ENSE00001264396 015 11 12270672 12270841 + 59 63 48 C T 12270754 462 83 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGAAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249206 12249207 12249207 exon 24 0.380952380952381 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTTCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 87 145 0.85 0.85 0.85 340 26 0.800767054806871 0.811138284022818 0.805952669414844 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785044 -0.122181030319647 -0.133090125369801 0.845064765079915 0.933588247259568 0.00493523492008535 -0.127635577844724 0.132570812764809 FALSE FALSE 0.001 0.561 . synonymous_variant LOW MICAL2 HGNC 24693 ENST00000379612 16/19 1 NA TCC C,T 1.647e-05 11:12249207 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 synonymous_variant 1.747841 0.24573 0.03717 0.645754 0.622757976781501 0 0.132223746243123 FALSE 1.64187e-05 ENSE00001264396_016 ENSE00001264396 016 11 12270672 12270841 + 59 63 48 T G 12270760 463 89 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGCAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249212 12249213 12249213 exon 30 0.476190476190476 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTGCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 15 19 0.988753462162093 0.983168994074036 0.985961228118064 NA NA NA NA NA 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 0.137211241023759 0.14458168505254 NA NA 0.845064765079915 0.933588247259568 0.14089646303815 NA NA NA FALSE 0 -0.18 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 rs377365465 1 tolerated_low_confidence(0.74) benign(0) NA G:0.0002 G:0 TTC T,G 8.237e-06 11:12249213 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 0.461014 0.19314 0.02456 0.645754 0.640981606862686 0 0.132223746243123 FALSE 4.10576e-06 ENSE00001264396_017 ENSE00001264396 017 11 12270672 12270841 + 59 63 48 C T 12270764 464 93 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGAATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249216 12249217 12249217 exon -30 0.53968253968254 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATTCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 90 148 0.85 0.875191360764718 0.862595680382359 1364 1746 0.826294793692593 0.809326860989658 0.817810827341125 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.036604051743222 -0.0966532914339252 -0.13490154840296 0.845064765079915 0.933588247259568 0.0175309153024442 -0.115777419918443 0.133308335220887 FALSE FALSE 0 -0.162 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 rs542038120 1 tolerated_low_confidence(0.12) benign(0.094) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCC C,T 0.0001235 11:12249217 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant -0.019285 0.143 0.01861 0.645754 0.994952101954154 0 0.132223746243123 FALSE 0.000110892 ENSE00001264396_018 ENSE00001264396 018 11 12270672 12270841 + 59 63 48 C T 12270765 465 94 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGAGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249217 12249218 12249218 exon -29 0.555555555555556 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCTCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 183 349 0.863844579992228 0.85 0.856922289996114 2042 3893 0.950076154092928 0.960572111463847 0.955324132778388 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 0.0123023588538939 0.0114126909785043 0.0271280689664104 0.016343702071229 0.845064765079915 0.933588247259568 0.0118575249161991 0.0217358855188197 0.00987836060262065 FALSE FALSE 0 0.554 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 rs370434166 1 deleterious_low_confidence(0.01) benign(0.017) NA T:0 T:0.0001 CCC C,T 8.237e-06 11:12249218 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 2.815135 0.30244 0.06066 0.645754 0.997891234585392 0 0.132223746243123 FALSE 4.10755e-06 ENSE00001264396_019 ENSE00001264396 019 11 12270672 12270841 + 59 63 48 A G 12270767 466 96 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCCGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249219 12249220 12249220 exon -27 0.587301587301587 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCGGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 62 77 0.935897897484527 0.916257834135483 0.926077865810005 NA NA NA NA NA 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 0.0843556763461937 0.0776705251139871 NA NA 0.845064765079915 0.933588247259568 0.0810131007300904 NA NA NA FALSE 0.003 0.183 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 1 tolerated_low_confidence(0.48) benign(0.001) NA CAG A,G 2.471e-05 11:12249220 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 0.953254 0.28154 0.09123 0.645754 0.969191003837358 0 0.132223746243123 FALSE 2.05359e-05 ENSE00001264396_020 ENSE00001264396 020 11 12270672 12270841 + 59 63 48 C T 12270770 467 99 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATAGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249222 12249223 12249223 exon -24 0.634920634920635 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCTATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 58 95 0.85 0.85 0.85 362 686 0.809835856992572 0.815107209241091 0.812471533116831 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785043 -0.113112228133946 -0.129121200151528 0.845064765079915 0.933588247259568 0.0049352349200853 -0.121116714142737 0.126051949062822 FALSE FALSE 0.02 0.89 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 COSM3444454&COSM3444455 1 tolerated_low_confidence(0.25) benign(0) NA CCA C,T 1.647e-05 11:12249223 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 1.329756 0.35636 0.15503 0.645754 0.993246079881462 0 0.132223746243123 FALSE 8.21699e-06 ENSE00001264396_021 ENSE00001264396 021 11 12270672 12270841 + 59 63 48 A T 12270781 468 110 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACAGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249233 12249234 12249234 exon -13 0.80952380952381 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACTGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 257 347 0.85 0.85 0.85 NA NA NA NA NA 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785043 NA NA 0.845064765079915 0.933588247259568 0.0049352349200853 NA NA NA FALSE 0.006 1.352 rs145479252 synonymous_variant LOW MICAL2 HGNC 24693 ENST00000379612 16/19 rs145479252 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0007 CAG A,T 0.0005024 11:12249234 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 synonymous_variant -0.597373 0.82603 0.43349 0.722319 0.780541901179956 0 0.132223746243123 FALSE 0.000390712 ENSE00001264396_022 ENSE00001264396 022 11 12270672 12270841 + 59 63 48 A G 12270786 469 115 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAGGACGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249238 12249239 12249239 exon -8 0.888888888888889 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCGTCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 25 103 0.85 0.85 0.85 580 372 0.959592132138351 0.980219252201078 0.969905692169715 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785044 0.0366440470118334 0.0359908428084595 0.845064765079915 0.933588247259568 0.00493523492008535 0.0363174449101465 0.0313822099900611 FALSE FALSE 0 -1.584 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 rs375256908 1 tolerated_low_confidence(1) benign(0.001) NA G:0.0005 G:0 CAT A,G 5.767e-05 11:12249239 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant -1.356177 0.09885 0.00315 0.722319 0.0952896954435772 0 0.132223746243123 FALSE 3.70804e-05 ENSE00001264396_023 ENSE00001264396 023 11 12270672 12270841 + 59 63 48 C T 12270789 470 118 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCACCTGAAGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249241 12249242 12249242 exon -5 0.936507936507937 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCTTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 87 139 0.85 0.920175605604958 0.885087802802479 982 1282 0.882040842479854 0.944510078162699 0.913275460321276 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0815882965834626 -0.0409072426466638 0.000281668770080179 0.845064765079915 0.933588247259568 0.0400230377225644 -0.0203127869382918 0.0603358246608562 FALSE FALSE 0.878 1.097 . missense_variant MODERATE MICAL2 HGNC 24693 ENST00000379612 16/19 1 tolerated_low_confidence(0.31) benign(0.001) NA CCT C,T 8.239e-06 11:12249242 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 missense_variant 2.93126 0.97418 0.85622 0.722319 0.958961397571902 0 0.132223746243123 FALSE 4.12551e-06 ENSE00001264396_024 ENSE00001264396 024 11 12270672 12270841 + 59 63 48 C T 12270805 471 134 CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGACTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249257 12249258 12249258 downstr_intron 12 1.25531914893617 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGTCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 78 54 0.842940611335393 0.85 0.846470305667696 1527 2655 0.776812765058194 0.972508361145128 0.874660563101661 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00860160980294089 0.0114126909785044 -0.146135320068325 0.0282799517525099 0.845064765079915 0.933588247259568 0.00140554058778175 -0.0589276841579073 0.0603332247456891 FALSE FALSE 0.004 0.154 . intron_variant MODIFIER MICAL2 HGNC 24693 ENST00000379612 16/18 1 NA GCC C,T 8.238e-06 11:12249258 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 intron_variant 2.347354 0.19157 0.06107 0.074388 0.868064968280616 0.225401 0.132223746243123 FALSE NA ENSE00001264396_025 ENSE00001264396 025 11 12270672 12270841 + 59 63 48 C A 12270818 472 147 CCCCCTTTGCAGGTGAGGCAGCTTAAGTTCAGGGAGGCTCTAACTCACCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCCTTTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 12249270 12249271 12249271 downstr_intron 25 1.53191489361702 AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTAAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG mutant 29 14 0.85 0.85 0.85 464 399 0.914267477320226 0.960923410473442 0.937595443896834 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.00154222113833369 0.0114126909785043 -0.00868060780629254 0.0166950010808234 0.845064765079915 0.933588247259568 0.0049352349200853 0.00400719663726545 0.000928038282819843 FALSE FALSE 0 0.007 . intron_variant MODIFIER MICAL2 HGNC 24693 ENST00000379612 16/18 1 NA TCA C,A 1.648e-05 11:12249271 MICAL2 HGNC Symbol protein_coding 265136 ENSG00000133816 ENSE00003641105 intron_variant 1.600766 0.20531 0.14074 0.074388 0.819201392878927 0.142609 0.132223746243123 FALSE 1.70528e-05 ENSE00001264396_BRK ENSE00001264396 BRK 11 12270672 12270841 + 59 63 48 A,G; T,T NA NA NA CCCCCTTTGCAGGTGAGGCAGCTGAAGTTCAGGGAGGCTCTAACTCGGCTGAGGATGCACTGTTCTCAAATGGCTGGGATGAAAATGGAACCCTGAAGGTGACTTCTTTTCAATTAGAAAGAGAGGGATCAACATGCATTTTAGGTAAATAAGCTTTCTTTCCGAATTCT 12249124 12249294 NA NA NA NA NA NA AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAATTGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGCCGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG AGAATTCGGAAAGAAAGCTTATTTACCTAAAATGCATGTTGATCCCTCTCTTTCTAAAGGAAAAGAAGTCACCTTCAGGGTTCCATTTTCATCCCAGCCATTTGAGAACAGTGCATCCTCAGGTGAGTTAGAGCCTCCCTGAACTTCAGCTGCCTCACCTGCAAAGGGGG control 52 106 0 0 0 1874 244 0.0465646441304011 0.00131347209191073 0.0239390581111559 0.851542221138334 0.838587309021496 0.922948085126518 0.944228409392618 -0.851542221138334 -0.838587309021496 -0.876383440996117 -0.942914937300708 0.845064765079915 0.933588247259568 -0.845064765079915 -0.909649189148412 0.0645844240684977 TRUE TRUE NA NA NA NA NA MICAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MICAL2 NA NA NA ENSG00000133816 ENSE00003641105 NA NA NA NA NA NA NA 0.132223746243123 FALSE NA ENSE00001265417_000 ENSE00001265417 000 9 129246192 129246361 + 60 60 50 NA NA NA NA NA TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 NA NA NA NA NA NA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA natural 41 26 0.999797638105897 0.999579885533611 0.999688761819754 776 801 0.881049117296356 0.993601914632663 0.93732551596451 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 0 0 0 0 0.999688761819754 0.93732551596451 0 0 0 FALSE FALSE NA NA NA NA NA MVB12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MVB12B NA NA NA ENSG00000196814 ENSE00003616609 NA NA NA NA NA NA NA 0.622016653573598 FALSE NA ENSE00001265417_002 ENSE00001265417 002 9 129246192 129246361 + 60 60 50 A G 129246232 2527 41 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTCGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126483952 126483953 126483953 upstr_intron -20 -0.316666666666667 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCGACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 123 18 0.986550817208019 0.95 0.968275408604009 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.105501699911662 -0.0436019146326632 0.999688761819754 0.93732551596451 NA 0.0309498926394995 NA FALSE NA 0 0.304 . intron_variant MODIFIER MVB12B HGNC 23368 ENST00000436593 8/9 1 NA CAA A,G 1.647e-05 9:126483953 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 intron_variant -0.244024 0.10094 0.00167 0.099367 0.313081998619885 0.10461 0.622016653573598 FALSE 4.0624e-06 ENSE00001265417_005 ENSE00001265417 005 9 129246192 129246361 + 60 60 50 A G 129246238 2530 47 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGACGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126483958 126483959 126483959 upstr_intron -14 -0.216666666666667 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCGTCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 54 70 0.95 0.968011676886227 0.959005838443113 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.0689508827036436 -0.0255902377464364 0.999688761819754 0.93732551596451 NA 0.0216803224786036 NA FALSE NA 0.001 -0.639 . intron_variant MODIFIER MVB12B HGNC 23368 ENST00000436593 8/9 rs374710468 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 CAT A,G 4.118e-05 9:126483959 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 intron_variant -0.134325 0.18127 0.0107 0.099367 0.451640540829214 0.1037 0.622016653573598 FALSE 2.43724e-05 ENSE00001265417_007 ENSE00001265417 007 9 129246192 129246361 + 60 60 50 T C 129246241 2532 50 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACGGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126483961 126483962 126483962 upstr_intron -11 -0.166666666666667 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCCGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 1079 96 0.999273071815246 0.998348989173095 0.998811030494171 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.11822395451889 0.00474707454043155 0.999688761819754 0.93732551596451 NA 0.0614855145296608 NA FALSE NA 0.844 2.236 NA NA NA MVB12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:126483962 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 intron_variant 0.102108 0.36154 0.56834 0.099367 0.713246468041449 0.1037 0.622016653573598 FALSE 4.06266e-06 ENSE00001265417_010 ENSE00001265417 010 9 129246192 129246361 + 60 60 50 T G 129246248 2535 57 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGCAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126483968 126483969 126483969 upstr_intron -4 -0.05 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTGCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 1511 289 0.968432014591902 0.997849671217086 0.983140842904494 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.087382897295546 0.00424775658442333 0.999688761819754 0.93732551596451 NA 0.0458153269399847 NA FALSE NA 0.969 0.006 . splice_region_variant&intron_variant LOW MVB12B HGNC 23368 ENST00000436593 8/9 1 NA TTC T,G 8.236e-06 9:126483969 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 splice_region_variant 0.470545 0.40383 0.55985 0.099367 0.588387882120359 0.253512 0.622016653573598 FALSE 4.06141e-06 ENSE00001265417_011 ENSE00001265417 011 9 129246192 129246361 + 60 60 50 A G 129246252 2536 61 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCACCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126483972 126483973 126483973 exon 1 0.0166666666666667 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGGTGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 947 249 0.954033858243738 0.998727567672131 0.976380712957934 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.0729847409473814 0.00512565303946766 0.999688761819754 0.93732551596451 NA 0.0390551969934245 NA FALSE NA 1 8.626 . missense_variant&splice_region_variant MODERATE MVB12B HGNC 23368 ENST00000436593 9/10 1 benign(0.027) NA GAT A,G 1.647e-05 9:126483973 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 missense_variant 0.648041 0.98681 0.99221 0.562547 0.891405906739136 0 0.622016653573598 FALSE 1.62439e-05 ENSE00001265417_014 ENSE00001265417 014 9 129246192 129246361 + 60 60 50 C T 129246270 2539 79 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAAGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126483990 126483991 126483991 exon 19 0.316666666666667 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCTTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 94 25 0.997790199949331 1 0.998895099974666 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.116741082652975 0.00639808536733688 0.999688761819754 0.93732551596451 NA 0.0615695840101559 NA FALSE NA 0.995 0.303 . synonymous_variant LOW MVB12B HGNC 23368 ENST00000436593 9/10 1 NA CCT C,T 8.236e-06 9:126483991 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 synonymous_variant 1.668903 0.94972 0.27072 0.562547 0.651196931278815 0 0.622016653573598 FALSE NA ENSE00001265417_015 ENSE00001265417 015 9 129246192 129246361 + 60 60 50 G A 129246272 2540 81 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCTAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126483992 126483993 126483993 exon 21 0.35 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTAGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 467 323 1 0.996998955129514 0.998499477564757 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.118950882703644 0.00339704049685108 0.999688761819754 0.93732551596451 NA 0.0611739616002474 NA FALSE NA 1 6.135 . synonymous_variant LOW MVB12B HGNC 23368 ENST00000436593 9/10 1 NA TGG G,A 8.236e-06 9:126483993 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 synonymous_variant 0.948638 0.98606 0.97884 0.562547 0.649550994306052 0 0.622016653573598 FALSE 1.21832e-05 ENSE00001265417_016 ENSE00001265417 016 9 129246192 129246361 + 60 60 50 A G 129246276 2541 85 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGACTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126483996 126483997 126483997 exon 25 0.416666666666667 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAGTCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 1007 1528 0.999713577460712 0.997924268208208 0.99881892283446 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.118664460164356 0.00432235357554467 0.999688761819754 0.93732551596451 NA 0.0614934068699503 NA FALSE NA 1 8.626 . missense_variant MODERATE MVB12B HGNC 23368 ENST00000436593 9/10 1 probably_damaging(0.996) NA AAT A,G 8.236e-06 9:126483997 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 missense_variant 5.598505 0.99206 0.99406 0.562547 0.994912010289068 0 0.622016653573598 FALSE NA ENSE00001265417_017 ENSE00001265417 017 9 129246192 129246361 + 60 60 50 A G 129246282 2542 91 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGACGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484002 126484003 126484003 exon -30 0.516666666666667 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCGTCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 1884 221 0.998450958593287 1 0.999225479296644 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.117401841296931 0.00639808536733688 0.999688761819754 0.93732551596451 NA 0.0618999633321339 NA FALSE NA 1 8.626 . missense_variant MODERATE MVB12B HGNC 23368 ENST00000436593 9/10 1 probably_damaging(0.996) NA CAT A,G 8.236e-06 9:126484003 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 missense_variant 5.739416 0.99206 0.99406 0.562547 0.999104531371751 0 0.622016653573598 FALSE 8.12255e-06 ENSE00001265417_018 ENSE00001265417 018 9 129246192 129246361 + 60 60 50 C G 129246291 2543 100 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTACAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484011 126484012 126484012 exon -21 0.666666666666667 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTGTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 106 203 0.998551167408718 0.998676802853665 0.998613985131191 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.117502050112361 0.00507488822100211 0.999688761819754 0.93732551596451 NA 0.0612884691666817 NA FALSE NA 1 5.487 . missense_variant MODERATE MVB12B HGNC 23368 ENST00000436593 9/10 1 probably_damaging(0.937) NA TCT C,G 8.236e-06 9:126484012 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 missense_variant 4.514453 0.99 0.98629 0.562547 0.994518895495434 0 0.622016653573598 FALSE 4.06164e-06 ENSE00001265417_019 ENSE00001265417 019 9 129246192 129246361 + 60 60 50 A G 129246293 2544 102 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCCAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484013 126484014 126484014 exon -19 0.7 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTGGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 2319 263 0.997291321660108 0.999855166368576 0.998573244014342 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.116242204363752 0.00625325173591296 0.999688761819754 0.93732551596451 NA 0.0612477280498323 NA FALSE NA 1 1.781 . synonymous_variant LOW MVB12B HGNC 23368 ENST00000436593 9/10 rs375241708 1 NA G:0 G:0.0001 TAG A,G 8.236e-06 9:126484014 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 synonymous_variant 0.249923 0.95873 0.30263 0.562547 0.650642185051425 0 0.622016653573598 FALSE 8.12348e-06 ENSE00001265417_021 ENSE00001265417 021 9 129246192 129246361 + 60 60 50 C T 129246302 2546 111 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCAATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484022 126484023 126484023 exon -10 0.85 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATTGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 11 20 0.95 1 0.975 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.0689508827036436 0.00639808536733688 0.999688761819754 0.93732551596451 NA 0.0376744840354902 NA FALSE NA 0.058 -0.84 . synonymous_variant LOW MVB12B HGNC 23368 ENST00000436593 9/10 rs367876106&COSM1105209&COSM3699424 1 NA T:0 T:0.0001 TCG C,T 8.236e-06 9:126484023 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 synonymous_variant 1.583247 0.95264 0.02852 0.562547 0.674132041590613 0 0.622016653573598 FALSE 8.12533e-06 ENSE00001265417_024 ENSE00001265417 024 9 129246192 129246361 + 60 60 50 G A 129246329 2549 138 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCTCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484049 126484050 126484050 downstr_intron 18 1.36734693877551 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGAGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 769 66 0.998329108499075 1 0.999164554249538 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.117279991202719 0.00639808536733688 0.999688761819754 0.93732551596451 NA 0.0618390382850278 NA FALSE NA 0 -0.398 . intron_variant MODIFIER MVB12B HGNC 23368 ENST00000436593 9/9 rs375644132 1 NA A:0 A:0.0001 GGG G,A 8.236e-06 9:126484050 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 intron_variant -0.199119 0.08337 0.00144 0.080785 0.518506814184753 0.046875 0.622016653573598 FALSE 1.62745e-05 ENSE00001265417_025 ENSE00001265417 025 9 129246192 129246361 + 60 60 50 G A 129246330 2550 139 TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTTCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484050 126484051 126484051 downstr_intron 19 1.38775510204082 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGAAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 98 78 0.986210338402426 1 0.993105169201213 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.10516122110607 0.00639808536733688 0.999688761819754 0.93732551596451 NA 0.0557796532367034 NA FALSE NA 0 -0.708 . intron_variant MODIFIER MVB12B HGNC 23368 ENST00000436593 9/9 1 NA GGA G,A 4.118e-05 9:126484051 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 intron_variant -0.000203 0.16062 0.0242 0.080785 0.290027256008325 0.046875 0.622016653573598 FALSE 4.47493e-05 ENSE00001265417_026 ENSE00001265417 026 9 129246192 129246361 + 60 60 50 G A 129246338 2551 147 TGCAGGCGATGGCCCAGGCCTGCTCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484058 126484059 126484059 downstr_intron 27 1.55102040816327 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGAGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 55 436 0.989848314548368 0.999912666260925 0.994880490404646 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.108799197252011 0.00631075162826211 0.999688761819754 0.93732551596451 NA 0.0575549744401367 NA FALSE NA 0 0.677 . intron_variant MODIFIER MVB12B HGNC 23368 ENST00000436593 9/9 1 NA GGG G,A 1.647e-05 9:126484059 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 intron_variant 0.294267 0.22989 0.0623 0.099367 0.585842584079274 0.046875 0.622016653573598 FALSE 4.07352e-05 ENSE00001265417_027 ENSE00001265417 027 9 129246192 129246361 + 60 60 50 G A 129246339 2552 148 TGCAGGCGATGGCCCAGGCCTGTCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484059 126484060 126484060 downstr_intron 28 1.57142857142857 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGACAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 680 221 0.996997875173764 1 0.998498937586882 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.115948757877408 0.00639808536733688 0.999688761819754 0.93732551596451 NA 0.0611734216223722 NA FALSE NA 0 0.091 . intron_variant MODIFIER MVB12B HGNC 23368 ENST00000436593 9/9 1 NA GGC G,A 8.236e-06 9:126484060 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 intron_variant 0.11485 0.1957 0.02276 0.099367 0.684489925773738 0.046875 0.622016653573598 FALSE 4.07432e-06 ENSE00001265417_028 ENSE00001265417 028 9 129246192 129246361 + 60 60 50 C G 129246340 2553 149 TGCAGGCGATGGCCCAGGCCTCCCCTCCCCTCCCCTGATGGCTTGCTTACCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATCTGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 126484060 126484061 126484061 downstr_intron 29 1.59183673469388 GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGGAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA mutant NA NA NA NA NA 103 250 1 0.998732665935613 0.999366332967807 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 NA NA 0.118950882703644 0.00513075130295026 0.999688761819754 0.93732551596451 NA 0.0620408170032969 NA FALSE NA 0 -3.643 . intron_variant MODIFIER MVB12B HGNC 23368 ENST00000436593 9/9 1 NA GCA C,G 8.236e-06 9:126484061 MVB12B HGNC Symbol protein_coding 180192 ENSG00000196814 ENSE00003616609 intron_variant -0.175422 0.13581 0.01141 0.099367 0.490193649280061 0.046875 0.622016653573598 FALSE 4.07538e-06 ENSE00001265417_BRK ENSE00001265417 BRK 9 129246192 129246361 + 60 60 50 A,G; T,T NA NA NA TGCAGGCGATGGCCCAGGCCTGCCCTCCCCTCCCCTGATGGCTTGCTTGGCTCTTTTTCGATTTCTGCTAGAGATTTGATGGTGATTCCCAGGAGATCAAAGGGCTGCATAAGAAAACACAGATGAAGTTGCCCTTTTAAATAGCTGGAAAATGCTCCTCCCACACTTAC 126483912 126484082 NA NA NA NA NA NA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCTTATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGCCAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA GTAAGTGTGGGAGGAGCATTTTCCAGCTATTTAAAAGGGCAACTTCATCTGTGTTTTCAGATGCAGCCCTTTGATCTCCTGGGAATCACCATCAAATCTCTAGCAGAAATCGAAAAAGAGGTAAGCAAGCCATCAGGGGAGGGGAGGGCAGGCCTGGGCCATCGCCTGCA control 71 27 0 0 0 NA NA NA NA NA 0.999797638105897 0.999579885533611 0.881049117296356 0.993601914632663 -0.999797638105897 -0.999579885533611 NA NA 0.999688761819754 0.93732551596451 -0.999688761819754 NA NA NA TRUE NA NA NA NA NA MVB12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MVB12B NA NA NA ENSG00000196814 ENSE00003616609 NA NA NA NA NA NA NA 0.622016653573598 FALSE NA ENSE00001265880_000 ENSE00001265880 000 22 26106993 26107162 + 42 96 32 NA NA NA NA NA CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 NA NA NA NA NA NA CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT natural 12 30 0.979075759414048 0.98504507521665 0.982060417315349 4446 3087 0.978145822722286 0.951797088226125 0.964971455474205 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 0 0 0 0 0.982060417315349 0.964971455474205 0 0 0 FALSE FALSE NA NA NA NA NA ADRBK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRK3 NA NA NA ENSG00000100077 ENSE00001265880 NA NA NA NA NA NA NA NA NA NA ENSE00001265880_001 ENSE00001265880 001 22 26106993 26107162 + 42 96 32 T C 26107008 334 16 CGATCATCTGAAAACCGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711040 25711041 25711041 upstr_intron -27 -0.619047619047619 CGATCATCTGAAAACCGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 467 2664 1 0.929477990956903 0.964738995478451 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.0218541772777141 -0.022319097269222 0.982060417315349 0.964971455474205 NA -0.000232459995753942 NA FALSE NA 0 -0.005 . intron_variant MODIFIER ADRBK2 HGNC 290 ENST00000324198 16/20 1 NA CTG T,C 8.237e-06 22:25711041 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 intron_variant -0.024793 0.24286 0.02914 0.295142 0.35235155151813 0.096861 NA NA 4.27775e-06 ENSE00001265880_002 ENSE00001265880 002 22 26106993 26107162 + 42 96 32 T C 26107029 335 37 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCCTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711061 25711062 25711062 upstr_intron -6 -0.119047619047619 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCCTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 500 1762 0.955324890890827 0.88684036013932 0.921082625515074 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA -0.0228209318314585 -0.0649567280868045 0.982060417315349 0.964971455474205 NA -0.0438888299591315 NA FALSE NA 0.952 2.229 . splice_region_variant&intron_variant LOW ADRBK2 HGNC 290 ENST00000324198 16/20 1 NA CTT T,C 8.236e-06 22:25711062 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 splice_region_variant 0.166288 0.96898 0.53179 0.162113 0.698468440517793 0.729064 NA NA 1.23517e-05 ENSE00001265880_003 ENSE00001265880 003 22 26106993 26107162 + 42 96 32 C T 26107032 336 40 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCTAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711064 25711065 25711065 upstr_intron -3 -0.0476190476190476 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCTAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 2335 1160 0.999026594702547 0.998934294654881 0.998980444678714 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.0208807719802612 0.0471372064287562 0.982060417315349 0.964971455474205 NA 0.0340089892045087 NA FALSE NA 0.952 1.045 . splice_region_variant&intron_variant LOW ADRBK2 HGNC 290 ENST00000324198 16/20 rs202104653 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCA C,T 1.647e-05 22:25711065 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 splice_region_variant 1.31109 0.97762 0.75176 0.162113 0.752672017415139 0.375006 NA NA 8.23228e-06 ENSE00001265880_005 ENSE00001265880 005 22 26106993 26107162 + 42 96 32 T G 26107048 338 56 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTGGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711080 25711081 25711081 exon 14 0.145833333333333 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTGGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 805 1029 0.858437336073625 0.98322761382712 0.920832474950373 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA -0.11970848664866 0.0314305256009951 0.982060417315349 0.964971455474205 NA -0.0441389805238326 NA FALSE NA 1 7.491 rs139363888 missense_variant MODERATE ADRBK2 HGNC 290 ENST00000324198 17/21 rs139363888 1 deleterious(0) probably_damaging(1) NA G:0 G:0.0001 TTG T,G 8.236e-06 22:25711081 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 missense_variant 6.242112 0.99288 0.98412 0.706298 0.966313581144159 0 NA NA 4.07097e-06 ENSE00001265880_006 ENSE00001265880 006 22 26106993 26107162 + 42 96 32 C T 26107059 339 67 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCTGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711091 25711092 25711092 exon 25 0.260416666666667 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCTGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 360 1368 0.989677963994127 0.997417699689906 0.993547831842016 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.0115321412718411 0.0456206114637814 0.982060417315349 0.964971455474205 NA 0.0285763763678112 NA FALSE NA 1 4.398 . missense_variant MODERATE ADRBK2 HGNC 290 ENST00000324198 17/21 1 deleterious(0) probably_damaging(0.999) NA CCG C,T 4.118e-05 22:25711092 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 missense_variant 8.170622 0.98952 0.94435 0.706298 0.999235082967343 0 NA NA 3.66202e-05 ENSE00001265880_009 ENSE00001265880 009 22 26106993 26107162 + 42 96 32 A G 26107067 342 75 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAGGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711099 25711100 25711100 exon 33 0.34375 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAGGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 846 684 0.981573711943259 0.990824027229637 0.986198869586448 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.00342788922097337 0.0390269390035125 0.982060417315349 0.964971455474205 NA 0.0212274141122429 NA FALSE NA 1 0.458 rs147019147 synonymous_variant LOW ADRBK2 HGNC 290 ENST00000324198 17/21 rs147019147 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 AAG A,G 4.942e-05 22:25711100 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 synonymous_variant 0.41679 0.96332 0.63263 0.706298 0.633002867083976 0 NA NA 4.47114e-05 ENSE00001265880_010 ENSE00001265880 010 22 26106993 26107162 + 42 96 32 T C 26107069 343 77 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGCCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711101 25711102 25711102 exon 35 0.364583333333333 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGCCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 1115 1214 0.992199960683398 0.998289020872536 0.995244490777967 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.0140541379611121 0.0464919326464117 0.982060417315349 0.964971455474205 NA 0.0302730353037619 NA FALSE NA 1 7.491 . missense_variant MODERATE ADRBK2 HGNC 290 ENST00000324198 17/21 1 deleterious(0) probably_damaging(0.999) NA GTC T,C 8.236e-06 22:25711102 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 missense_variant 5.978978 0.99279 0.98099 0.706298 0.998978861205399 0 NA NA 4.06461e-06 ENSE00001265880_011 ENSE00001265880 011 22 26106993 26107162 + 42 96 32 A G 26107072 344 80 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAGTGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711104 25711105 25711105 exon 38 0.395833333333333 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAGTGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 515 296 0.992131327777772 1 0.996065663888886 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.0139855050554858 0.0482029117738755 0.982060417315349 0.964971455474205 NA 0.0310942084146806 NA FALSE NA 1 8.718 . missense_variant MODERATE ADRBK2 HGNC 290 ENST00000324198 17/21 rs200932412 1 deleterious(0.03) probably_damaging(0.991) NA AAT A,G 1.647e-05 22:25711105 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 missense_variant 4.542702 0.9933 0.98833 0.706298 0.996778095843676 0 NA NA 1.21925e-05 ENSE00001265880_013 ENSE00001265880 013 22 26106993 26107162 + 42 96 32 T C 26107091 346 99 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGACATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711123 25711124 25711124 exon -40 0.59375 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGACATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 800 1562 0.93882221321781 0.86025176949261 0.89953699135521 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA -0.0393236095044757 -0.0915453187335143 0.982060417315349 0.964971455474205 NA -0.065434464118995 NA FALSE NA 1 0.778 . synonymous_variant LOW ADRBK2 HGNC 290 ENST00000324198 17/21 rs371527367 1 NA C:0 C:0.0001 ATA T,C 1.647e-05 22:25711124 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 synonymous_variant -0.728953 0.95777 0.48962 0.706298 0.703544049937974 0 NA NA 8.12843e-06 ENSE00001265880_014 ENSE00001265880 014 22 26106993 26107162 + 42 96 32 C T 26107099 347 107 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTTATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711131 25711132 25711132 exon -32 0.677083333333333 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTTATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 1375 992 0.997426690222167 0.848220917424772 0.922823803823469 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.0192808674998809 -0.103576170801353 0.982060417315349 0.964971455474205 NA -0.0421476516507359 NA FALSE NA 1 7.286 . missense_variant MODERATE ADRBK2 HGNC 290 ENST00000324198 17/21 1 deleterious(0.02) probably_damaging(0.947) NA TCA C,T 8.236e-06 22:25711132 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 missense_variant 6.585863 0.99442 0.98117 0.706298 0.999043775660959 0 NA NA 4.06623e-06 ENSE00001265880_015 ENSE00001265880 015 22 26106993 26107162 + 42 96 32 A T 26107100 348 108 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCTTTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711132 25711133 25711133 exon -31 0.6875 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCTTTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 184 677 0.99916612788463 0.998924732041924 0.999045429963277 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.021020305162344 0.0471276438157993 0.982060417315349 0.964971455474205 NA 0.0340739744890716 NA FALSE NA 0 -3.883 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:25711133 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 synonymous_variant -0.636162 0.11712 0.02546 0.706298 0.759401334315506 0 NA NA 4.06679e-06 ENSE00001265880_016 ENSE00001265880 016 22 26106993 26107162 + 42 96 32 A G 26107100 349 108 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCGTTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711132 25711133 25711133 exon -31 0.6875 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCGTTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 2181 1765 0.997087424610614 0.999493071920889 0.998290248265751 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.0189416018883277 0.0476959836947641 0.982060417315349 0.964971455474205 NA 0.0333187927915459 NA FALSE NA 0 -3.883 NA NA NA ADRBK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRK3 NA NA NA ENSG00000100077 ENSE00001265880 synonymous_variant 0.28418 0.10774 0.02234 0.706298 0.677668031752561 0 NA NA 1.22004e-05 ENSE00001265880_017 ENSE00001265880 017 22 26106993 26107162 + 42 96 32 T C 26107102 350 110 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATCTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711134 25711135 25711135 exon -29 0.708333333333333 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATCTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 2415 611 0.998009816525551 1 0.999004908262776 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA 0.0198639938032655 0.0482029117738755 0.982060417315349 0.964971455474205 NA 0.0340334527885705 NA FALSE NA 1 7.491 . missense_variant MODERATE ADRBK2 HGNC 290 ENST00000324198 17/21 1 deleterious(0) probably_damaging(0.99) NA TTT T,C 8.236e-06 22:25711135 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 missense_variant 6.296676 0.9926 0.9798 0.706298 0.998963789885801 0 NA NA NA ENSE00001265880_018 ENSE00001265880 018 22 26106993 26107162 + 42 96 32 G C 26107110 351 118 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAACAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711142 25711143 25711143 exon -21 0.791666666666667 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAACAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 3475 1208 0.872504053255341 0.938879479885196 0.905691766570268 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA -0.105641769466945 -0.0129176083409289 0.982060417315349 0.964971455474205 NA -0.0592796889039371 NA FALSE NA 1 9.216 . missense_variant MODERATE ADRBK2 HGNC 290 ENST00000324198 17/21 rs531356327 1 deleterious(0.01) possibly_damaging(0.864) C:0.0006 C:0 C:0 NA C:0 C:0 C:0.0031 AGA G,C 3.295e-05 22:25711143 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 missense_variant 5.97285 0.99483 0.99126 0.706298 0.998209437001087 0 NA NA 2.0347e-05 ENSE00001265880_019 ENSE00001265880 019 22 26106993 26107162 + 42 96 32 A G 26107114 352 122 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGGTACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 25711146 25711147 25711147 exon -17 0.833333333333333 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGGTACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 834 281 0.113678135523519 0.00180163186058388 0.0577398836920515 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA -0.864467687198767 -0.949995456365541 0.982060417315349 0.964971455474205 NA -0.907231571782154 NA TRUE NA 1 8.718 . missense_variant MODERATE ADRBK2 HGNC 290 ENST00000324198 17/21 1 deleterious(0) possibly_damaging(0.806) NA GAT A,G 8.236e-06 22:25711147 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 missense_variant 6.420898 0.99304 0.98769 0.706298 0.998183009140787 0 NA NA 4.07598e-06 ENSE00001265880_020 ENSE00001265880 020 22 26106993 26107162 + 42 96 32 G C 26107141 353 149 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTCATCATTTATTTCTTTATTTTT 25711025 25711195 25711173 25711174 25711174 downstr_intron 11 1.35483870967742 CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTCATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT mutant NA NA NA NA NA 902 573 0.938276629153471 1 0.969138314576736 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 NA NA -0.0398691935688148 0.0482029117738755 0.982060417315349 0.964971455474205 NA 0.00416685910253034 NA FALSE NA 0.001 0.975 . intron_variant MODIFIER ADRBK2 HGNC 290 ENST00000324198 17/20 rs549579735 1 C:0.0012 C:0 C:0 NA C:0 C:0 C:0.0061 TGA G,C 9.06e-05 22:25711174 GRK3 HGNC Symbol protein_coding 164445 ENSG00000100077 ENSE00001265880 intron_variant -0.350584 0.23526 0.0351 0.099367 0.411167410111973 0.046323 NA NA 7.6719e-05 ENSE00001265880_BRK ENSE00001265880 BRK 22 26106993 26107162 + 42 96 32 A,G; T,T NA NA NA CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCTTTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGCCACACATGTGATCATTTATTTCTTTATTTTT 25711025 25711195 NA NA NA NA NA NA CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCTTTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGCCACACATGTGATCATTTATTTCTTTATTTTT CGATCATCTGAAAACTGTACCATGCTTGTTTGGATCTTCCAGTACCCACCACCCTTGATTCCTCCCCGGGGAGAAGTCAATGCTGCTGATGCCTTTGATATTGGCTCATTTGATGAAGAGGATACCAAAGGGATTAAGGTACACATGTGATCATTTATTTCTTTATTTTT control 221 40 0 0 0 886 1369 0 0.00333319578402484 0.00166659789201242 0.979075759414048 0.98504507521665 0.978145822722286 0.951797088226125 -0.979075759414048 -0.98504507521665 -0.978145822722286 -0.9484638924421 0.982060417315349 0.964971455474205 -0.982060417315349 -0.963304857582193 0.0187555597331561 TRUE TRUE NA NA NA NA NA ADRBK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRK3 NA NA NA ENSG00000100077 ENSE00001265880 NA NA NA NA NA NA NA NA NA NA ENSE00001265894_000 ENSE00001265894 000 12 57928809 57928978 - 30 99 41 NA NA NA NA NA CAGAGAAGGGAGAAGAGAGTTTGTAGTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTAATGTTATATGTCTCATTA 57535025 57535195 NA NA NA NA NA NA TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG natural 12 19 1 0.997558175885175 0.998779087942588 1320 3538 0.960249177798959 0.972514025002205 0.966381601400582 1 0.997558175885175 0.960249177798959 0.972514025002205 0 0 0 0 0.998779087942588 0.966381601400582 0 0 0 FALSE FALSE NA NA NA NA NA DCTN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DCTN2 NA NA NA ENSG00000175203 ENSE00003592045 NA NA NA NA NA NA NA 0.996367311488722 TRUE NA ENSE00001265894_002 ENSE00001265894 002 12 57928809 57928978 - 30 99 41 T A 57928830 2241 149 CAGAGAAGGGAGAAGAGAGTTAGTAGTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTAATGTTATATGTCTCATTA 57535025 57535195 57535046 57535047 57535047 downstr_intron 9 1.31034482758621 TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACTAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant NA NA NA NA NA 85 49 1 0.982788620403594 0.991394310201797 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA 0.0397508222010405 0.0102745954013889 0.998779087942588 0.966381601400582 NA 0.0250127088012147 NA FALSE NA 0 -0.55 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DCTN2 HGNC 2712 ENST00000547345 5/5 1 NA TTG T,A 1.655e-05 12:57535047 DCTN2 HGNC Symbol protein_coding 17229 ENSG00000175203 ENSE00003592045 non_coding_transcript_exon_variant 0.351191 0.22183 0.06844 0.256867 0.724762068283781 0.0978416 0.996367311488722 TRUE NA ENSE00001265894_003 ENSE00001265894 003 12 57928809 57928978 - 30 99 41 G T 57928834 2242 145 CAGAGAAGGGAGAAGAGAGTTTGTATTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTAATGTTATATGTCTCATTA 57535025 57535195 57535050 57535051 57535051 downstr_intron 5 1.17241379310345 TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAAATACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant NA NA NA NA NA 429 26 1 1 1 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA 0.0397508222010405 0.0274859749977947 0.998779087942588 0.966381601400582 NA 0.0336183985994176 NA FALSE NA 0.538 0.335 NA NA NA DCTN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:57535051 DCTN2 HGNC Symbol protein_coding 17229 ENSG00000175203 ENSE00003592045 splice_region_variant 0.708851 0.66478 0.15421 0.256867 0.79382062542242 0.160042 0.996367311488722 TRUE 4.0699e-06 ENSE00001265894_005 ENSE00001265894 005 12 57928809 57928978 - 30 99 41 G C 57928858 2244 121 CAGAGAAGGGAGAAGAGAGTTTGTAGTTACCTTGATTTTTTCAACTTCACTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTAATGTTATATGTCTCATTA 57535025 57535195 57535074 57535075 57535075 exon -20 0.808080808080808 TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAAGTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant NA NA NA NA NA 1958 14 0.998944330057677 0.988532060410614 0.993738195234145 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA 0.0386951522587172 0.0160180354084087 0.998779087942588 0.966381601400582 NA 0.027356593833563 NA FALSE NA 0.607 2.453 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DCTN2 HGNC 2712 ENST00000547345 5/5 1 NA AGT G,C 8.273e-06 12:57535075 DCTN2 HGNC Symbol protein_coding 17229 ENSG00000175203 ENSE00003592045 missense_variant 1.557209 0.58083 0.61847 0.706548 0.807966641919599 0 0.996367311488722 TRUE 4.06187e-06 ENSE00001265894_008 ENSE00001265894 008 12 57928809 57928978 - 30 99 41 C T 57928917 2247 62 CAGAGAAGGGAGAAGAGAGTTTGTAGTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTTACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTAATGTTATATGTCTCATTA 57535025 57535195 57535133 57535134 57535134 exon 21 0.212121212121212 TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTAAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant NA NA NA NA NA 1323 160 0.998623234078171 1 0.999311617039085 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA 0.0383740562792111 0.0274859749977947 0.998779087942588 0.966381601400582 NA 0.0329300156385029 NA FALSE NA 0.96 0.023 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DCTN2 HGNC 2712 ENST00000547345 5/5 1 NA TCA C,T 8.273e-06 12:57535134 DCTN2 HGNC Symbol protein_coding 17229 ENSG00000175203 ENSE00003592045 synonymous_variant 1.667143 0.95986 0.64665 0.719381 0.96019224496398 0 0.996367311488722 TRUE 4.06283e-06 ENSE00001265894_010 ENSE00001265894 010 12 57928809 57928978 - 30 99 41 C A 57928923 2249 56 CAGAGAAGGGAGAAGAGAGTTTGTAGTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCAAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTAATGTTATATGTCTCATTA 57535025 57535195 57535139 57535140 57535140 exon 15 0.151515151515152 TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTTGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant NA NA NA NA NA 21 311 1 1 1 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA 0.0397508222010405 0.0274859749977947 0.998779087942588 0.966381601400582 NA 0.0336183985994176 NA FALSE NA 0.573 -0.006 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DCTN2 HGNC 2712 ENST00000547345 5/5 1 NA CCA C,A 8.273e-06 12:57535140 DCTN2 HGNC Symbol protein_coding 17229 ENSG00000175203 ENSE00003592045 synonymous_variant 2.125643 0.97136 0.49237 0.719381 0.87437256628493 0 0.996367311488722 TRUE 4.06494e-06 ENSE00001265894_011 ENSE00001265894 011 12 57928809 57928978 - 30 99 41 C G 57928952 2250 27 CAGAGAAGGGAGAAGAGAGTTTGTAGTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCAGAGAGGGTAATGTTATATGTCTCATTA 57535025 57535195 57535168 57535169 57535169 upstr_intron -15 -0.341463414634146 TAATGAGACATATAACATTACCCTCTCTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant NA NA NA NA NA 52 1516 0.95 0.996090666282153 0.973045333141077 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA -0.0102491777989595 0.0235766412799479 0.998779087942588 0.966381601400582 NA 0.00666373174049417 NA FALSE NA 0.003 0.3 . intron_variant&non_coding_transcript_variant MODIFIER DCTN2 HGNC 2712 ENST00000547345 4/4 rs556490170 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 ACA C,G 2.482e-05 12:57535169 DCTN2 HGNC Symbol protein_coding 17229 ENSG00000175203 ENSE00003592045 non_coding_transcript_exon_variant 0.983422 0.23205 0.19484 0.099367 0.747264794356553 0.0870774 0.996367311488722 TRUE 1.64425e-05 ENSE00001265894_012 ENSE00001265894 012 12 57928809 57928978 - 30 99 41 A C 57928960 2251 19 CAGAGAAGGGAGAAGAGAGTTTGTAGTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTCATGTTATATGTCTCATTA 57535025 57535195 57535176 57535177 57535177 upstr_intron -23 -0.536585365853659 TAATGAGACATATAACATGACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant NA NA NA NA NA 95 27 1 1 1 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA 0.0397508222010405 0.0274859749977947 0.998779087942588 0.966381601400582 NA 0.0336183985994176 NA FALSE NA 0.039 0.801 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:57535177 DCTN2 HGNC Symbol protein_coding 17229 ENSG00000175203 ENSE00003592045 non_coding_transcript_exon_variant 0.281532 0.23378 0.0858 0.099367 0.744047476693992 0.0870264 0.996367311488722 TRUE 4.17456e-06 ENSE00001265894_013 ENSE00001265894 013 12 57928809 57928978 - 30 99 41 A G 57928960 2252 19 CAGAGAAGGGAGAAGAGAGTTTGTAGTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTGATGTTATATGTCTCATTA 57535025 57535195 57535176 57535177 57535177 upstr_intron -23 -0.536585365853659 TAATGAGACATATAACATCACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant NA NA NA NA NA 355 477 0.993460570426955 0.999336308383102 0.996398439405029 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA 0.0332113926279958 0.026822283380897 0.998779087942588 0.966381601400582 NA 0.0300168380044464 NA FALSE NA 0.039 0.801 NA NA NA DCTN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DCTN2 NA NA NA ENSG00000175203 ENSE00003592045 non_coding_transcript_exon_variant 0.463815 0.13101 0.00172 0.099367 0.758034828086362 0.0870264 0.996367311488722 TRUE 4.17456e-06 ENSE00001265894_014 ENSE00001265894 014 12 57928809 57928978 - 30 99 41 T C 57928967 2253 12 CAGAGAAGGGAGAAGAGAGTTTGTAGTTACCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGCTAGAGAGCAGGCACAGAGGGTAATGTTACATGTCTCATTA 57535025 57535195 57535183 57535184 57535184 upstr_intron -30 -0.707317073170732 TAATGAGACATGTAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG mutant 14 21 0.911917971769663 0.992211330920445 0.952064651345054 NA NA NA NA NA 1 0.997558175885175 0.960249177798959 0.972514025002205 -0.0880820282303365 -0.00534684496473048 NA NA 0.998779087942588 0.966381601400582 -0.0467144365975335 NA NA NA FALSE 0 -1.701 . intron_variant&non_coding_transcript_variant MODIFIER DCTN2 HGNC 2712 ENST00000547345 4/4 rs578154256 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 ATA T,C 0.0001324 12:57535184 DCTN2 HGNC Symbol protein_coding 17229 ENSG00000175203 ENSE00003592045 non_coding_transcript_exon_variant -0.083144 0.13527 0.00223 0.069865 0.597916013082802 0.0901428 0.996367311488722 TRUE 0.000134179 ENSE00001265894_BRK ENSE00001265894 BRK 12 57928809 57928978 - 30 99 41 A,G; T,T NA NA NA CAGAGAAGGGAGAAGAGAGTTTGTAGTTGGCTTGATTTTTTCAACTTCAGTTGTCAGCTCTTGGACCTCATGCAGTAGGCGCTGGTACTTTTGCTGGGGTGTCTCCTTCACTCCCAGACCCTCTCCAAGAAAGAGAGCAGGCACAGAGGGTAATGTTATATGTCTCATTA 57535025 57535195 NA NA NA NA NA NA TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTTTCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGCCAACTACAAACTCTCTTCTCCCTTCTCTG TAATGAGACATATAACATTACCCTCTGTGCCTGCTCTCTAGCTTGGAGAGGGTCTGGGAGTGAAGGAGACACCCCAGCAAAAGTACCAGCGCCTACTGCATGAGGTCCAAGAGCTGACAACTGAAGTTGAAAAAATCAAGGTAACTACAAACTCTCTTCTCCCTTCTCTG control NA NA NA NA NA 74 191 0 0 0 1 0.997558175885175 0.960249177798959 0.972514025002205 NA NA -0.960249177798959 -0.972514025002205 0.998779087942588 0.966381601400582 NA -0.966381601400582 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DCTN2 NA NA NA ENSG00000175203 ENSE00003592045 NA NA NA NA NA NA NA 0.996367311488722 TRUE NA ENSE00001266698_000 ENSE00001266698 000 19 1418608 1418777 + 57 66 47 NA NA NA NA NA CGTGGAGTGGAGAACACACAAGGAGGCCGCCCGGCCCAGCCCCTTACCCATCCTTCCTTCGGCCGTGTTCTCTCCGGCTGCATCCCCCGGGGTGTGCATGGCTTGGGGTCGATCTGCAGGAAATTTCAAATCAGCTGGTTGTGAATAAGAGGCTGTTTCTCTAGGAAAGA 1418608 1418778 NA NA NA NA NA NA TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG natural 23 21 0.990154576605605 0.997514124937515 0.99383435077156 190 258 0.995942468391543 0.977391956308584 0.986667212350063 0.990154576605605 0.997514124937515 0.995942468391543 0.977391956308584 0 0 0 0 0.99383435077156 0.986667212350063 0 0 0 FALSE FALSE NA NA NA NA NA DAZAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DAZAP1 NA NA NA ENSG00000071626 ENSE00003533522 NA NA NA NA NA NA NA 0.999571003507893 TRUE NA ENSE00001266698_001 ENSE00001266698 001 19 1418608 1418777 + 57 66 47 A C 1418622 60 15 CGTGGAGTGGAGAACACACAAGGAGGCCGCCCGGCCCAGCCCCTTACCCATCCTTCCTTCGGCCGTGTTCTCTCCGGCTGCATCCCCCGGGGTGTGCATGGCTTGGGGTCGATCTGCAGGAAATTTCAAATCAGCTGGTTGTGAATAAGAGGCTGGTTCTCTAGGAAAGA 1418608 1418778 1418622 1418623 1418623 upstr_intron -43 -0.736842105263158 TCTTTCCTAGAGAACCAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG mutant NA NA NA NA NA 11 166 1 0.99552168031829 0.997760840159145 0.990154576605605 0.997514124937515 0.995942468391543 0.977391956308584 NA NA 0.00405753160845701 0.0181297240097065 0.99383435077156 0.986667212350063 NA 0.0110936278090817 NA FALSE NA 0 0.076 . intron_variant MODIFIER DAZAP1 HGNC 2683 ENST00000592453 3/7 1 NA AAC A,C 8.236e-06 19:1418623 DAZAP1 HGNC Symbol protein_coding 28118 ENSG00000071626 ENSE00003533522 intron_variant 0.723219 0.16455 0.20099 0.256867 0.766416723555088 0.102885 0.999571003507893 TRUE 4.06755e-06 ENSE00001266698_011 ENSE00001266698 011 19 1418608 1418777 + 57 66 47 G A 1418703 70 96 CGTGGAGTGGAGAACACACAAGGAGGCCGCCCGGCCCAGCCCCTTACCCATCCTTCCTTCGGCCGTGTTCTCTCTGGCTGCATCCCCCGGGGTGTGCATGGCTTGGGGTCGATCTGCAGGAAATTTCAAATCAGCTGGTTGTGAATAAGAGGCTGTTTCTCTAGGAAAGA 1418608 1418778 1418703 1418704 1418704 exon -28 0.590909090909091 TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCAGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG mutant NA NA NA NA NA 169 91 1 1 1 0.990154576605605 0.997514124937515 0.995942468391543 0.977391956308584 NA NA 0.00405753160845701 0.0226080436914161 0.99383435077156 0.986667212350063 NA 0.0133327876499366 NA FALSE NA 0.001 -1.391 . intron_variant MODIFIER DAZAP1 HGNC 2683 ENST00000592453 3/7 rs199949739 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGG G,A 4.118e-05 19:1418704 DAZAP1 HGNC Symbol protein_coding 28118 ENSG00000071626 ENSE00003533522 synonymous_variant 1.583865 0.12247 0.03908 0.706548 0.797034296888669 0 0.999571003507893 TRUE 3.67326e-05 ENSE00001266698_013 ENSE00001266698 013 19 1418608 1418777 + 57 66 47 G A 1418718 72 111 CGTGGAGTGGAGAACACACAAGGAGGCCGCCCGGCCCAGCCCCTTACCCATCCTTCCTTTGGCCGTGTTCTCTCCGGCTGCATCCCCCGGGGTGTGCATGGCTTGGGGTCGATCTGCAGGAAATTTCAAATCAGCTGGTTGTGAATAAGAGGCTGTTTCTCTAGGAAAGA 1418608 1418778 1418718 1418719 1418719 exon -13 0.818181818181818 TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCAAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG mutant NA NA NA NA NA 91 29 0.973728556348419 0.95 0.96186427817421 0.990154576605605 0.997514124937515 0.995942468391543 0.977391956308584 NA NA -0.0222139120431236 -0.0273919563085838 0.99383435077156 0.986667212350063 NA -0.0248029341758537 NA FALSE NA 0.018 -0.919 . intron_variant MODIFIER DAZAP1 HGNC 2683 ENST00000592453 3/7 rs200931393&COSM991813&COSM1589758 1 NA A:0.0002 A:0.0002 CGA G,A 0.0001812 19:1418719 DAZAP1 HGNC Symbol protein_coding 28118 ENSG00000071626 ENSE00003533522 synonymous_variant 1.484759 0.28415 0.06233 0.706548 0.848219274240547 0 0.999571003507893 TRUE 0.0002102 ENSE00001266698_014 ENSE00001266698 014 19 1418608 1418777 + 57 66 47 G T 1418738 73 131 CGTGGAGTGGAGAACACACAAGGAGGCCGCCCGGCCCAGACCCTTACCCATCCTTCCTTCGGCCGTGTTCTCTCCGGCTGCATCCCCCGGGGTGTGCATGGCTTGGGGTCGATCTGCAGGAAATTTCAAATCAGCTGGTTGTGAATAAGAGGCTGTTTCTCTAGGAAAGA 1418608 1418778 1418738 1418739 1418739 downstr_intron 8 1.17391304347826 TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGTCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG mutant NA NA NA NA NA 20 371 0.902845256976677 0.978518395427356 0.940681826202016 0.990154576605605 0.997514124937515 0.995942468391543 0.977391956308584 NA NA -0.0930972114148664 0.00112643911877197 0.99383435077156 0.986667212350063 NA -0.0459853861480472 NA FALSE NA 0.096 0.001 . intron_variant MODIFIER DAZAP1 HGNC 2683 ENST00000592453 3/7 rs567563958 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGC G,T 8.237e-06 19:1418739 DAZAP1 HGNC Symbol protein_coding 28118 ENSG00000071626 ENSE00003533522 splice_region_variant 0.697541 0.61603 0.08598 0.115753 0.732671619850236 0.463037 0.999571003507893 TRUE 4.29078e-06 ENSE00001266698_BRK ENSE00001266698 BRK 19 1418608 1418777 + 57 66 47 A,G; T,T NA NA NA CGTGGAGTGGAGAACACACAAGGAGGCCGCCCGGCCCAGCCCCTTGGCCATCCTTCCTTCGGCCGTGTTCTCTCCGGCTGCATCCCCCGGGGTGTGCATGGCTTGGGGTCGATAAGCAGGAAATTTCAAATCAGCTGGTTGTGAATAAGAGGCTGTTTCTCTAGGAAAGA 1418608 1418778 NA NA NA NA NA NA TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCTTATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGCCAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG TCTTTCCTAGAGAAACAGCCTCTTATTCACAACCAGCTGATTTGAAATTTCCTGCAGATCGACCCCAAGCCATGCACACCCCGGGGGATGCAGCCGGAGAGAACACGGCCGAAGGAAGGATGGGTAAGGGGCTGGGCCGGGCGGCCTCCTTGTGTGTTCTCCACTCCACG control NA NA NA NA NA 415 170 0 0 0 0.990154576605605 0.997514124937515 0.995942468391543 0.977391956308584 NA NA -0.995942468391543 -0.977391956308584 0.99383435077156 0.986667212350063 NA -0.986667212350063 NA TRUE NA NA NA NA NA NA DAZAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DAZAP1 NA NA NA ENSG00000071626 ENSE00003533522 NA NA NA NA NA NA NA 0.999571003507893 TRUE NA ENSE00001267186_000 ENSE00001267186 000 17 78969425 78969594 + 47 87 36 NA NA NA NA NA GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 NA NA NA NA NA NA GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG natural 89 61 0.998374812461421 0.996046724566818 0.99721076851412 2332 2961 0.948422674504809 0.953070992409417 0.950746833457113 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 0 0 0 0 0.99721076851412 0.950746833457113 0 0 0 FALSE FALSE NA NA NA NA NA CHMP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHMP6 NA NA NA ENSG00000176108 ENSE00001267186 NA NA NA NA NA NA NA 0.765888301098665 FALSE NA ENSE00001267186_001 ENSE00001267186 001 17 78969425 78969594 + 47 87 36 A G 78969443 3373 19 GCACCCCGGATCCTCAGCGCCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995642 80995643 80995643 upstr_intron -29 -0.595744680851064 GCACCCCGGATCCTCAGCGCCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 17 10 0.997826899425264 0.999440369841982 0.998633634633623 NA NA NA NA NA 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 -0.000547913036157199 0.00339364527516439 NA NA 0.99721076851412 0.950746833457113 0.0014228661195036 NA NA NA FALSE 0 -1.184 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 2/5 1 NA CAC .,G 8.237e-06 17:80995643 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant -0.289364 0.1125 0.01784 0.115753 0.153703600496656 0.069204 0.765888301098665 FALSE 8.15003e-06 ENSE00001267186_002 ENSE00001267186 002 17 78969425 78969594 + 47 87 36 G C 78969447 3374 23 GCACCCCGGATCCTCAGCACCTCCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995646 80995647 80995647 upstr_intron -25 -0.51063829787234 GCACCCCGGATCCTCAGCACCTCCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 169 1420 1 0.995555562493477 0.997777781246738 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0424845700840598 0.99721076851412 0.950746833457113 NA 0.0470309477896256 NA FALSE NA 0 -0.547 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 2/5 rs370186200 1 NA C:0 C:0.0001 TGC .,C 8.236e-06 17:80995647 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant -0.212306 0.11043 0.03438 0.115753 0.381843496150002 0.069204 0.765888301098665 FALSE 1.22149e-05 ENSE00001267186_003 ENSE00001267186 003 17 78969425 78969594 + 47 87 36 G A 78969449 3375 25 GCACCCCGGATCCTCAGCACCTGCATCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995648 80995649 80995649 upstr_intron -23 -0.468085106382979 GCACCCCGGATCCTCAGCACCTGCATCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 10 111 1 1 1 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0469290075905829 0.99721076851412 0.950746833457113 NA 0.0492531665428872 NA FALSE NA 0 0.047 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 2/5 rs373125714 1 NA A:0 A:0.0001 CGT .,A 3.295e-05 17:80995649 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant 0.102683 0.13653 0.04406 0.115753 0.679481587548044 0.069204 0.765888301098665 FALSE 4.06947e-05 ENSE00001267186_004 ENSE00001267186 004 17 78969425 78969594 + 47 87 36 T C 78969450 3376 26 GCACCCCGGATCCTCAGCACCTGCGCCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995649 80995650 80995650 upstr_intron -22 -0.446808510638298 GCACCCCGGATCCTCAGCACCTGCGCCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 183 155 1 0.998513090735384 0.999256545367692 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0454420983259666 0.99721076851412 0.950746833457113 NA 0.048509711910579 NA FALSE NA 0 -0.043 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 2/5 1 NA GTC .,C 8.236e-06 17:80995650 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant -0.201446 0.13942 0.00767 0.115753 0.343702254232258 0.069204 0.765888301098665 FALSE 4.06845e-06 ENSE00001267186_005 ENSE00001267186 005 17 78969425 78969594 + 47 87 36 G T 78969459 3377 35 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGTTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995658 80995659 80995659 upstr_intron -13 -0.25531914893617 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGTTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 297 378 0.998606064445535 0.999393627117951 0.998999845781743 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0501833899407267 0.046322634708534 0.99721076851412 0.950746833457113 NA 0.0482530123246304 NA FALSE NA 0.001 0.525 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 2/5 1 NA GGT .,T 2.471e-05 17:80995659 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant -0.045448 0.18768 0.01596 0.256867 0.694866035604613 0.0689414 0.765888301098665 FALSE 3.25219e-05 ENSE00001267186_006 ENSE00001267186 006 17 78969425 78969594 + 47 87 36 T G 78969466 3378 42 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTGTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995665 80995666 80995666 upstr_intron -6 -0.106382978723404 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTGTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 361 452 0.823748978455917 0.735725655678528 0.779737317067222 762 369 0.794421255323754 0.794986016013419 0.794703635668587 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 -0.174625834005504 -0.26032106888829 -0.154001419181054 -0.158084976395998 0.99721076851412 0.950746833457113 -0.217473451446897 -0.156043197788526 0.061430253658371 FALSE FALSE 0 0.162 . splice_region_variant&intron_variant LOW CHMP6 HGNC 25675 ENST00000572778 2/5 1 NA TTT .,G 8.236e-06 17:80995666 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 splice_region_variant 0.233941 0.20263 0.24877 0.256867 0.769716854788205 0.0783802 0.765888301098665 FALSE 4.0654e-06 ENSE00001267186_007 ENSE00001267186 007 17 78969425 78969594 + 47 87 36 G A 78969479 3379 55 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAATATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995678 80995679 80995679 exon 8 0.0919540229885057 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAATATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 55 31 0.996640520071848 0.996587233561519 0.996613876816683 474 157 0.999128534965275 1 0.999564267482637 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 -0.00173429238957334 0.000540508994700706 0.0507058604604661 0.0469290075905829 0.99721076851412 0.950746833457113 -0.000596891697436319 0.0488174340255245 0.0494143257229608 FALSE FALSE 1 6.997 . missense_variant MODERATE CHMP6 HGNC 25675 ENST00000572778 3/6 1 tolerated(0.31) benign(0.02) NA AGT G,A 8.237e-06 17:80995679 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 missense_variant 1.885702 0.97993 0.82681 0.706548 0.927764042009196 0 0.765888301098665 FALSE 4.06316e-06 ENSE00001267186_008 ENSE00001267186 008 17 78969425 78969594 + 47 87 36 G T 78969486 3380 62 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGATTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995685 80995686 80995686 exon 15 0.172413793103448 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGATTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 158 713 1 0.995706830208489 0.997853415104245 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0426358377990724 0.99721076851412 0.950746833457113 NA 0.0471065816471319 NA FALSE NA 1 1.539 . missense_variant MODERATE CHMP6 HGNC 25675 ENST00000572778 3/6 1 deleterious(0.01) probably_damaging(0.994) NA AGT G,T 8.237e-06 17:80995686 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 missense_variant 5.156932 0.96567 0.88893 0.706548 0.998392290296217 0 0.765888301098665 FALSE 4.06319e-06 ENSE00001267186_009 ENSE00001267186 009 17 78969425 78969594 + 47 87 36 A G 78969496 3381 72 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGGTCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995695 80995696 80995696 exon 25 0.28735632183908 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGGTCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 14 13 1 1 1 NA NA NA NA NA 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 0.00162518753857877 0.00395327543318214 NA NA 0.99721076851412 0.950746833457113 0.00278923148588045 NA NA NA FALSE 1 8.622 . missense_variant MODERATE CHMP6 HGNC 25675 ENST00000572778 3/6 1 tolerated(0.41) benign(0.147) NA GAT A,G 8.237e-06 17:80995696 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 missense_variant 0.624208 0.98799 0.98457 0.706548 0.879047713403903 0 0.765888301098665 FALSE 8.12843e-06 ENSE00001267186_010 ENSE00001267186 010 17 78969425 78969594 + 47 87 36 C T 78969498 3382 74 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATTGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995697 80995698 80995698 exon 27 0.310344827586207 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATTGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 32 28 0.997328773390565 1 0.998664386695282 NA NA NA NA NA 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 -0.00104603907085665 0.00395327543318214 NA NA 0.99721076851412 0.950746833457113 0.00145361818116274 NA NA NA FALSE 0.02 -0.982 rs148861093 synonymous_variant LOW CHMP6 HGNC 25675 ENST00000572778 3/6 rs148861093 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0002 T:0.0001 TCG C,T 4.942e-05 17:80995698 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 synonymous_variant 1.611762 0.91676 0.04903 0.706548 0.780158261042397 0 0.765888301098665 FALSE 5.69073e-05 ENSE00001267186_011 ENSE00001267186 011 17 78969425 78969594 + 47 87 36 G A 78969499 3383 75 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCAAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995698 80995699 80995699 exon 28 0.32183908045977 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCAAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 27 158 1 1 1 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0469290075905829 0.99721076851412 0.950746833457113 NA 0.0492531665428872 NA FALSE NA 1 9.114 . missense_variant MODERATE CHMP6 HGNC 25675 ENST00000572778 3/6 COSM3712596 1 deleterious(0.01) possibly_damaging(0.891) NA CGA G,A 8.237e-06 17:80995699 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 missense_variant 6.459857 0.99065 0.98606 0.706548 0.999091141850359 0 0.765888301098665 FALSE 8.13008e-06 ENSE00001267186_012 ENSE00001267186 012 17 78969425 78969594 + 47 87 36 G A 78969510 3384 86 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTAATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995709 80995710 80995710 exon 39 0.448275862068966 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTAATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 446 9917 1 0.998462048124103 0.999231024062051 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0453910557146856 0.99721076851412 0.950746833457113 NA 0.0484841906049385 NA FALSE NA 1 1.441 . synonymous_variant LOW CHMP6 HGNC 25675 ENST00000572778 3/6 1 NA TGA G,A 8.237e-06 17:80995710 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 synonymous_variant 0.379496 0.96174 0.79368 0.706548 0.748346286136448 0 0.765888301098665 FALSE 1.62676e-05 ENSE00001267186_013 ENSE00001267186 013 17 78969425 78969594 + 47 87 36 A G 78969511 3385 87 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGGTGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995710 80995711 80995711 exon 40 0.459770114942529 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGGTGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 11 14 1 0.976106844794788 0.988053422397394 459 70 1 1 1 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 0.00162518753857877 -0.0199398797720299 0.0515773254951915 0.0469290075905829 0.99721076851412 0.950746833457113 -0.00915734611672558 0.0492531665428872 0.0584105126596128 FALSE FALSE 1 2.634 . missense_variant MODERATE CHMP6 HGNC 25675 ENST00000572778 3/6 1 tolerated(0.74) benign(0.002) NA GAT A,G 8.237e-06 17:80995711 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 missense_variant -0.995571 0.96428 0.8553 0.706548 0.757347572443479 0 0.765888301098665 FALSE 4.06666e-06 ENSE00001267186_015 ENSE00001267186 015 17 78969425 78969594 + 47 87 36 G A 78969519 3387 95 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGACTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995718 80995719 80995719 exon -40 0.551724137931034 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGACTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 15 495 0.997223701712107 0.999680366749228 0.998452034230667 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.048801027207298 0.0466093743398105 0.99721076851412 0.950746833457113 NA 0.0477052007735542 NA FALSE NA 0.442 -0.159 . synonymous_variant LOW CHMP6 HGNC 25675 ENST00000572778 3/6 COSM708691 1 NA GGC G,A 8.237e-06 17:80995719 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 synonymous_variant 0.578321 0.95859 0.52096 0.706548 0.67134124236676 0 0.765888301098665 FALSE 4.06937e-06 ENSE00001267186_016 ENSE00001267186 016 17 78969425 78969594 + 47 87 36 T C 78969528 3388 104 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTCGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995727 80995728 80995728 exon -31 0.655172413793103 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTCGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 20 12 0.999104773766922 1 0.999552386883461 1109 24 0.924299901790462 0.911684555960956 0.917992228875709 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 0.000729961305500515 0.00395327543318214 -0.0241227727143468 -0.0413864364484611 0.99721076851412 0.950746833457113 0.00234161836934133 -0.0327546045814039 0.0350962229507453 FALSE FALSE 0.115 -0.269 rs144419202 synonymous_variant LOW CHMP6 HGNC 25675 ENST00000572778 3/6 rs144419202 1 C:0.0072 C:0.0272 C:0 NA C:0 C:0 C:0 C:0.0184 C:0 TTG T,C 0.001894 17:80995728 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 synonymous_variant -0.48704 0.6098 0.23532 0.706548 0.773897798510033 0 0.765888301098665 FALSE 0.00158862 ENSE00001267186_018 ENSE00001267186 018 17 78969425 78969594 + 47 87 36 C T 78969553 3390 129 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGTACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995752 80995753 80995753 exon -6 0.942528735632184 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGTACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 258 1971 1 0.999457526948657 0.999728763474328 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0463865345392399 0.99721076851412 0.950746833457113 NA 0.0489819300172157 NA FALSE NA 1 7.212 . missense_variant MODERATE CHMP6 HGNC 25675 ENST00000572778 3/6 1 deleterious(0.01) benign(0.2) NA GCA C,T 8.237e-06 17:80995753 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 missense_variant 4.359716 0.9904 0.97615 0.706548 0.99585598672847 0 0.765888301098665 FALSE 1.2248e-05 ENSE00001267186_020 ENSE00001267186 020 17 78969425 78969594 + 47 87 36 G A 78969558 3392 134 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAAGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995757 80995758 80995758 exon -1 1 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAAGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 72 116 0.881013771847037 0.935801613315077 0.908407692581057 NA NA NA NA NA 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 -0.117361040614384 -0.0602451112517409 NA NA 0.99721076851412 0.950746833457113 -0.0888030759330626 NA NA NA FALSE 1 9.114 . splice_region_variant&synonymous_variant LOW CHMP6 HGNC 25675 ENST00000572778 3/6 1 NA AGG G,A 1.647e-05 17:80995758 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 splice_region_variant 1.244168 0.9842 0.98134 0.706548 0.90417444394987 0 0.765888301098665 FALSE 8.1664e-06 ENSE00001267186_022 ENSE00001267186 022 17 78969425 78969594 + 47 87 36 G C 78969569 3394 145 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTCCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 80995768 80995769 80995769 downstr_intron 11 1.31428571428571 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTCCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 385 59 1 1 1 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0469290075905829 0.99721076851412 0.950746833457113 NA 0.0492531665428872 NA FALSE NA 0 0.058 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 3/5 rs371933133 1 NA C:0.0005 C:0 TGC G,C 1.647e-05 17:80995769 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant 0.52555 0.16253 0.02207 0.069865 0.848709164685718 0.118323 0.765888301098665 FALSE 8.17762e-06 ENSE00001267186_024 ENSE00001267186 024 17 78969425 78969594 + 47 87 36 G T 78969581 3396 157 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGTCATGGAGGTGTGG 80995624 80995794 80995780 80995781 80995781 downstr_intron 23 1.65714285714286 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGTCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 533 667 1 0.993540000475714 0.996770000237857 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0404690080662965 0.99721076851412 0.950746833457113 NA 0.046023166780744 NA FALSE NA 0 0.238 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 3/5 rs199694932 1 T:0.0004 T:0 T:0.0014 NA T:0.001 T:0 T:0 GGC G,T 8.238e-06 17:80995781 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant -0.73397 0.07388 0.01721 0.069865 0.621799312863693 0.0662078 0.765888301098665 FALSE NA ENSE00001267186_025 ENSE00001267186 025 17 78969425 78969594 + 47 87 36 C T 78969582 3397 158 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGTATGGAGGTGTGG 80995624 80995794 80995781 80995782 80995782 downstr_intron 24 1.68571428571429 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGTATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant NA NA NA NA NA 40 301 1 1 1 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 NA NA 0.0515773254951915 0.0469290075905829 0.99721076851412 0.950746833457113 NA 0.0492531665428872 NA FALSE NA 0 0.501 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 3/5 1 NA GCA C,T 8.238e-06 17:80995782 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant 0.216814 0.12727 0.02024 0.069865 0.761326481043477 0.0662078 0.765888301098665 FALSE 8.19941e-06 ENSE00001267186_026 ENSE00001267186 026 17 78969425 78969594 + 47 87 36 T A 78969584 3398 160 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCAAGGAGGTGTGG 80995624 80995794 80995783 80995784 80995784 downstr_intron 26 1.74285714285714 GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCAAGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG mutant 92 62 0.990933910978176 0.994459637898134 0.992696774438155 174 78 1 1 1 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 -0.00744090148324539 -0.0015870866686839 0.0515773254951915 0.0469290075905829 0.99721076851412 0.950746833457113 -0.00451399407596464 0.0492531665428872 0.0537671606188518 FALSE FALSE 0 -0.371 . intron_variant MODIFIER CHMP6 HGNC 25675 ENST00000572778 3/5 1 NA ATG T,A 8.238e-06 17:80995784 CHMP6 HGNC Symbol protein_coding 17919 ENSG00000176108 ENSE00001267186 intron_variant -0.467302 0.05741 0.00996 0.069865 0.343018515655258 0.0507396 0.765888301098665 FALSE 1.2305e-05 ENSE00001267186_BRK ENSE00001267186 BRK 17 78969425 78969594 + 47 87 36 A,G; T,T NA NA NA GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCTTGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGCCGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG 80995624 80995794 NA NA NA NA NA NA GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCTTGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGCCGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG GCACCCCGGATCCTCAGCACCTGCGTCTGCTCTGGTTTCCTTTTCAGGTTCAGAGTATTGAGTTCACCCAGATCGAAATGAAAGTGATGGAGGGGCTGCAGTTTGGAAATGAGTGTCTGAACAAGATGCACCAGGTGAGTCTCTGCAGGGCCAGGGGCATGGAGGTGTGG control 272 72 0 0 0 38 183 0 0 0 0.998374812461421 0.996046724566818 0.948422674504809 0.953070992409417 -0.998374812461421 -0.996046724566818 -0.948422674504809 -0.953070992409417 0.99721076851412 0.950746833457113 -0.99721076851412 -0.950746833457113 0.0464639350570069 TRUE TRUE NA NA NA NA NA CHMP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHMP6 NA NA NA ENSG00000176108 ENSE00001267186 NA NA NA NA NA NA NA 0.765888301098665 FALSE NA ENSE00001267864_000 ENSE00001267864 000 1 17736429 17736598 - 41 78 51 NA NA NA NA NA GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA 17409932 17410102 NA NA NA NA NA NA GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA natural 84 179 0.951306632349619 0.922843799559723 0.937075215954671 615 397 0.937096103711511 0.93253777672966 0.934816940220586 0.951306632349619 0.922843799559723 0.937096103711511 0.93253777672966 0 0 0 0 0.937075215954671 0.934816940220586 0 0 0 FALSE FALSE NA NA NA NA NA RCC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RCC2 NA NA NA ENSG00000179051 ENSE00001267864 NA NA NA NA NA NA NA 0.787633127226415 FALSE NA ENSE00001267864_006 ENSE00001267864 006 1 17736429 17736598 - 41 78 51 C T 17736497 405 102 GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAAACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA 17409932 17410102 17410000 17410001 17410001 exon -28 0.653846153846154 GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAAACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA mutant 12 26 0.85 0.85 0.85 NA NA NA NA NA 0.951306632349619 0.922843799559723 0.937096103711511 0.93253777672966 -0.101306632349619 -0.0728437995597226 NA NA 0.937075215954671 0.934816940220586 -0.0870752159546708 NA NA NA FALSE 1 1.188 . synonymous_variant LOW RCC2 HGNC 30297 ENST00000375436 12/13 rs371533435 1 NA T:0 T:0.0001 TCT C,T 8.236e-06 1:17410001 RCC2 HGNC Symbol protein_coding 32964 ENSG00000179051 ENSE00001267864 synonymous_variant 2.35408 0.93982 0.8833 0.722319 0.830149779127518 0 0.787633127226415 FALSE 8.12209e-06 ENSE00001267864_009 ENSE00001267864 009 1 17736429 17736598 - 41 78 51 A G 17736515 408 84 GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACCGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA 17409932 17410102 17410018 17410019 17410019 exon 33 0.423076923076923 GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACCGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA mutant 189 146 0.85 0.875479805192294 0.862739902596147 NA NA NA NA NA 0.951306632349619 0.922843799559723 0.937096103711511 0.93253777672966 -0.101306632349619 -0.0473639943674281 NA NA 0.937075215954671 0.934816940220586 -0.0743353133585236 NA NA NA FALSE 0 -1.902 . synonymous_variant LOW RCC2 HGNC 30297 ENST00000375436 12/13 1 NA CAG A,G 1.647e-05 1:17410019 RCC2 HGNC Symbol protein_coding 32964 ENSG00000179051 ENSE00001267864 synonymous_variant 0.824776 0.20591 0.10604 0.722319 0.698243686019131 0 0.787633127226415 FALSE 8.12203e-06 ENSE00001267864_017 ENSE00001267864 017 1 17736429 17736598 - 41 78 51 G A 17736571 416 28 GGACTGAGCCACATGGATCCTCGATTGTGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA 17409932 17410102 17410074 17410075 17410075 upstr_intron -24 -0.450980392156863 GGACTGAGCCACATGGATCCTCGATTGTGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA mutant NA NA NA NA NA 41 489 1 0.998586715231705 0.999293357615852 0.951306632349619 0.922843799559723 0.937096103711511 0.93253777672966 NA NA 0.0629038962884889 0.0660489385020446 0.937075215954671 0.934816940220586 NA 0.0644764173952668 NA FALSE NA 0 -0.167 . intron_variant MODIFIER RCC2 HGNC 30297 ENST00000375436 11/12 1 NA CGC G,A 1.647e-05 1:17410075 RCC2 HGNC Symbol protein_coding 32964 ENSG00000179051 ENSE00001267864 intron_variant -0.005724 0.21137 0.01767 0.139865 0.497669436963751 0.0554835 0.787633127226415 FALSE NA ENSE00001267864_021 ENSE00001267864 021 1 17736429 17736598 - 41 78 51 T C 17736586 420 13 GGACTGAGCCACGTGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA 17409932 17410102 17410089 17410090 17410090 upstr_intron -39 -0.745098039215686 GGACTGAGCCACGTGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA GGACTGAGCCACATGGATCCTCGATTGCGAACATCTTGTTTGCTTCGCCAGGGCTACGGGGACCACAAGCCCAAGTCTTCCACTGCAGCCCAGGAGGTAAAGACTCTGGATGGCATTTTCTCAGAGCAGGTGAGTGGGGGCAGCTGTGCCAGCTCGGGGACGTGTCCGTA mutant 39 23 0.85 0.85 0.85 NA NA NA NA NA 0.951306632349619 0.922843799559723 0.937096103711511 0.93253777672966 -0.101306632349619 -0.0728437995597225 NA NA 0.937075215954671 0.934816940220586 -0.0870752159546708 NA NA NA FALSE 0 -0.504 . intron_variant MODIFIER RCC2 HGNC 30297 ENST00000375436 11/12 1 NA ATG T,C 8.237e-06 1:17410090 RCC2 HGNC Symbol protein_coding 32964 ENSG00000179051 ENSE00001267864 intron_variant -0.054029 0.20495 0.08375 0.139865 0.321258542173974 0.0554835 0.787633127226415 FALSE 4.13497e-06 ENSE00001268021_000 ENSE00001268021 000 15 89020163 89020332 + 57 66 47 NA NA NA NA NA GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 NA NA NA NA NA NA GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG natural 489 793 0.847754918077416 0.84440363480008 0.846079276438748 1879 3695 0.787150524259543 0.754425890416606 0.770788207338075 0.847754918077416 0.84440363480008 0.787150524259543 0.754425890416606 0 0 0 0 0.846079276438748 0.770788207338075 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003612177 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001268021_014 ENSE00001268021 014 15 89020163 89020332 + 57 66 47 C T 89020250 2398 88 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCTGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477018 88477019 88477019 exon 31 0.46969696969697 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCTGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 156 42 0.182735587014074 0.112784966172971 0.147760276593522 NA NA NA NA NA 0.847754918077416 0.84440363480008 0.787150524259543 0.754425890416606 -0.665019331063343 -0.731618668627109 NA NA 0.846079276438748 0.770788207338075 -0.698318999845226 NA NA NA TRUE 1 2.657 NA NA NA MRPS11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MRPS11 NA NA NA ENSG00000181991 ENSE00003612177 stop_gained 13.201221 0.91372 0.92345 0.712529 0.997966471232464 0 0.000434481626027353 FALSE 4.0664e-06 ENSE00001268021_BRK ENSE00001268021 BRK 15 89020163 89020332 + 57 66 47 A,G; T,T NA NA NA GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCTTAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGCCAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 NA NA NA NA NA NA GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCTTAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGCCAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG control 511 240 0 0 0 433 1554 0.00177131443275554 0.000411770694833823 0.00109154256379468 0.847754918077416 0.84440363480008 0.787150524259543 0.754425890416606 -0.847754918077416 -0.84440363480008 -0.785379209826788 -0.754014119721772 0.846079276438748 0.770788207338075 -0.846079276438748 -0.76969666477428 0.076382611664468 TRUE TRUE NA NA NA NA NA MRPS11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MRPS11 NA NA NA ENSG00000181991 ENSE00003612177 NA NA NA NA NA NA NA 0.000434481626027353 FALSE NA ENSE00001268391_000 ENSE00001268391 000 5 41018761 41018930 - 32 96 42 NA NA NA NA NA TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 NA NA NA NA NA NA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA natural 41 27 0.974984414650887 0.991857241670655 0.983420828160771 1276 1803 0.96288992113003 0.986539686808078 0.974714803969054 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 0 0 0 0 0.983420828160771 0.974714803969054 0 0 0 FALSE FALSE NA NA NA NA NA MROH2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MROH2B NA NA NA ENSG00000171495 ENSE00003566307 NA NA NA NA NA NA NA 1.28868466121395e-26 FALSE NA ENSE00001268391_002 ENSE00001268391 002 5 41018761 41018930 - 32 96 42 G T 41018776 583 155 TGAGAATCAGTTTGATTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018673 41018674 41018674 downstr_intron 17 1.54838709677419 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCAATCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 341 431 1 0.999646021318618 0.999823010659309 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0371100788699704 0.0131063345105393 0.983420828160771 0.974714803969054 NA 0.0251082066902549 NA FALSE NA 0 0.198 . intron_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/35 1 NA AGT G,T 8.272e-06 5:41018674 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 intron_variant -0.089602 0.22164 0.0726 0.053691 0.37625739601379 0.0851235 1.28868466121395e-26 FALSE 4.07601e-06 ENSE00001268391_003 ENSE00001268391 003 5 41018761 41018930 - 32 96 42 T C 41018784 584 147 TGAGAATCAGTTTGAGTGGAGGCCCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018681 41018682 41018682 downstr_intron 9 1.29032258064516 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGGGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 409 135 0.956928665043287 0.95 0.953464332521644 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA -0.00596125608674214 -0.0365396868080785 0.983420828160771 0.974714803969054 NA -0.0212504714474103 NA FALSE NA 0 -0.974 . intron_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/35 1 NA CTC T,C 2.482e-05 5:41018682 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 intron_variant -0.257403 0.12355 0.00556 0.053691 0.545243355531975 0.0840473 1.28868466121395e-26 FALSE 3.66321e-05 ENSE00001268391_004 ENSE00001268391 004 5 41018761 41018930 - 32 96 42 C T 41018785 585 146 TGAGAATCAGTTTGAGTGGAGGCTTTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018682 41018683 41018683 downstr_intron 8 1.25806451612903 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAAAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 43 299 1 0.98708870923663 0.993544354618315 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0371100788699704 0.000549022428551371 0.983420828160771 0.974714803969054 NA 0.0188295506492609 NA FALSE NA 0 -0.266 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MROH2B HGNC 26857 ENST00000515297 20/35 rs377235097 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0003 T:0 TCT C,T 1.655e-05 5:41018683 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 splice_region_variant 0.340292 0.22857 0.0298 0.053691 0.269835866201327 0.0840473 1.28868466121395e-26 FALSE 2.44204e-05 ENSE00001268391_009 ENSE00001268391 009 5 41018761 41018930 - 32 96 42 A G 41018798 590 133 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAGCATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018695 41018696 41018696 exon -6 0.947916666666667 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGCTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 52 55 0.991807143649737 1 0.995903571824869 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0289172225197074 0.0134603131919215 0.983420828160771 0.974714803969054 NA 0.0211887678558145 NA FALSE NA 1 2.202 rs116499989 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 rs116499989 1 G:0.0365 G:0.0817 G:0.0403 NA G:0.001 G:0.0328 G:0.0133 G:0.0584 G:0.0392 AAC A,G 0.032 5:41018696 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 missense_variant 1.236046 0.97385 0.77039 0.487112 0.957086658444793 0 1.28868466121395e-26 FALSE 0.0309634 ENSE00001268391_010 ENSE00001268391 010 5 41018761 41018930 - 32 96 42 C A 41018804 591 127 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTATTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018701 41018702 41018702 exon -12 0.885416666666667 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAATAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 130 492 0.845620492269247 0.998820895165551 0.922220693717399 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA -0.117269428860783 0.012281208357472 0.983420828160771 0.974714803969054 NA -0.0524941102516555 NA FALSE NA 0.998 3.816 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 COSM3616525 1 NA TCT C,A 3.309e-05 5:41018702 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 stop_gained 12.87768 0.9887 0.91336 0.487112 0.996881794785668 0 1.28868466121395e-26 FALSE 4.88103e-05 ENSE00001268391_013 ENSE00001268391 013 5 41018761 41018930 - 32 96 42 G A 41018818 594 113 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTACATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018715 41018716 41018716 exon -26 0.739583333333333 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGTAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 183 21 1 1 1 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0371100788699704 0.0134603131919215 0.983420828160771 0.974714803969054 NA 0.025285196030946 NA FALSE NA 0.337 0.371 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 rs200472364 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGC G,A 8.274e-06 5:41018716 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 missense_variant 1.623868 0.25854 0.09777 0.487112 0.986801147528529 0 1.28868466121395e-26 FALSE NA ENSE00001268391_014 ENSE00001268391 014 5 41018761 41018930 - 32 96 42 A G 41018820 595 111 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCGTTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018717 41018718 41018718 exon -28 0.71875 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAACGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 653 495 0.998796388963122 0.997016294824438 0.99790634189378 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0359064678330927 0.0104766080163595 0.983420828160771 0.974714803969054 NA 0.0231915379247261 NA FALSE NA 0.019 0.062 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 1 NA CAT A,G 8.274e-06 5:41018718 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 synonymous_variant -0.558381 0.19958 0.02147 0.487112 0.280641984751094 0 1.28868466121395e-26 FALSE 4.06534e-06 ENSE00001268391_018 ENSE00001268391 018 5 41018761 41018930 - 32 96 42 G A 41018861 599 70 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAAGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018758 41018759 41018759 exon 28 0.291666666666667 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCTTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 274 193 0.992566365650064 1 0.996283182825032 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0296764445200346 0.0134603131919215 0.983420828160771 0.974714803969054 NA 0.0215683788559781 NA FALSE NA 0.993 3.317 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 rs545502687&COSM3616527 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGG G,A 8.276e-06 5:41018759 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 synonymous_variant 0.954988 0.97145 0.84344 0.487112 0.76572896685555 0 1.28868466121395e-26 FALSE 4.0654e-06 ENSE00001268391_020 ENSE00001268391 020 5 41018761 41018930 - 32 96 42 G T 41018865 601 66 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCTTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018762 41018763 41018763 exon 24 0.25 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGAAGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 487 256 1 0.993662543778639 0.99683127188932 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0371100788699704 0.00712285697056103 0.983420828160771 0.974714803969054 NA 0.0221164679202657 NA FALSE NA 0.829 -0.355 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:41018763 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 missense_variant 1.919418 0.91869 0.20885 0.487112 0.991686977920084 0 1.28868466121395e-26 FALSE 4.06481e-06 ENSE00001268391_021 ENSE00001268391 021 5 41018761 41018930 - 32 96 42 G A 41018865 602 66 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCATCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018762 41018763 41018763 exon 24 0.25 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGATGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 1230 35 1 0.995454207152136 0.997727103576068 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0371100788699704 0.00891452034405793 0.983420828160771 0.974714803969054 NA 0.0230122996070142 NA FALSE NA 0.829 -0.355 NA NA NA MROH2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MROH2B NA NA NA ENSG00000171495 ENSE00003566307 synonymous_variant 1.115943 0.89283 0.07032 0.487112 0.529758404525667 0 1.28868466121395e-26 FALSE 8.94258e-05 ENSE00001268391_023 ENSE00001268391 023 5 41018761 41018930 - 32 96 42 C T 41018868 604 63 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCTATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018765 41018766 41018766 exon 21 0.21875 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATAGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 19 77 1 1 1 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0371100788699704 0.0134603131919215 0.983420828160771 0.974714803969054 NA 0.025285196030946 NA FALSE NA 1 0.609 rs116009037 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 rs116009037 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0026 T:0 CCA C,T 0.0002979 5:41018766 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 missense_variant 3.092095 0.97462 0.66779 0.487112 0.981714667044866 0 1.28868466121395e-26 FALSE 0.000231694 ENSE00001268391_025 ENSE00001268391 025 5 41018761 41018930 - 32 96 42 A G 41018880 606 51 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCGTAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018777 41018778 41018778 exon 9 0.09375 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTACGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 515 1118 1 0.99996595278905 0.999982976394525 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0371100788699704 0.0134262659809712 0.983420828160771 0.974714803969054 NA 0.0252681724254708 NA FALSE NA 0.036 -1.524 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 1 NA CAT A,G 8.273e-06 5:41018778 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 synonymous_variant -0.122957 0.43222 0.00465 0.487112 0.360880527019069 0 1.28868466121395e-26 FALSE 8.12876e-06 ENSE00001268391_026 ENSE00001268391 026 5 41018761 41018930 - 32 96 42 A G 41018882 607 49 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATGGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018779 41018780 41018780 exon 7 0.0729166666666667 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCCATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 1119 297 0.999557839317101 0.936527431872574 0.968042635594837 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0366679181870716 -0.0500122549355045 0.983420828160771 0.974714803969054 NA -0.00667216837421647 NA FALSE NA 0.998 1.569 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 rs199722283 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAG A,G 1.655e-05 5:41018780 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 missense_variant 4.013459 0.98635 0.82994 0.487112 0.998675783016842 0 1.28868466121395e-26 FALSE 8.12909e-06 ENSE00001268391_027 ENSE00001268391 027 5 41018761 41018930 - 32 96 42 A C 41018884 608 47 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGCGAAACTGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018781 41018782 41018782 exon 5 0.0520833333333333 CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCGCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 574 56 1 0.95 0.975 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0371100788699704 -0.0365396868080784 0.983420828160771 0.974714803969054 NA 0.000285196030946011 NA FALSE NA 1 4.572 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 20/36 rs201647099 1 C:0.0008 C:0 C:0.0058 NA C:0 C:0 C:0 GAG A,C 4.964e-05 5:41018782 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 missense_variant 6.298104 0.98666 0.92621 0.487112 0.997762270625301 0 1.28868466121395e-26 FALSE 5.28408e-05 ENSE00001268391_028 ENSE00001268391 028 5 41018761 41018930 - 32 96 42 A G 41018894 609 37 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAGTCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018791 41018792 41018792 upstr_intron -6 -0.119047619047619 CTCACCCCAGCCTGAGACTCACACACACATATTTGACTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 350 183 0.8 0.841006592915303 0.820503296457652 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA -0.162889921130029 -0.145533093892775 0.983420828160771 0.974714803969054 NA -0.154211507511402 NA FALSE NA 0.999 4.572 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MROH2B HGNC 26857 ENST00000515297 19/35 1 NA AAT A,G 8.272e-06 5:41018792 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 splice_region_variant 1.530497 0.98576 0.91999 0.053691 0.896152721166221 0.974041 1.28868466121395e-26 FALSE 4.06484e-06 ENSE00001268391_030 ENSE00001268391 030 5 41018761 41018930 - 32 96 42 A G 41018898 611 33 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAGATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018795 41018796 41018796 upstr_intron -10 -0.214285714285714 CTCACCCCAGCCTGAGACTCACACACACATATCTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 528 756 0.967404790214145 0.998057861025447 0.982731325619796 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.00451486908411536 0.0115181742173689 0.983420828160771 0.974714803969054 NA 0.00801652165074213 NA FALSE NA 0 -1.182 . intron_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 19/35 1 NA AAA A,G 8.272e-06 5:41018796 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 intron_variant 0.259346 0.12774 0.00547 0.053691 0.457507950197901 0.176112 1.28868466121395e-26 FALSE 8.12955e-06 ENSE00001268391_031 ENSE00001268391 031 5 41018761 41018930 - 32 96 42 T C 41018902 612 29 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATACGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 41018799 41018800 41018800 upstr_intron -14 -0.30952380952381 CTCACCCCAGCCTGAGACTCACACACACGTATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 22 411 0.8 1 0.9 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA -0.162889921130029 0.0134603131919215 0.983420828160771 0.974714803969054 NA -0.0747148039690539 NA FALSE NA 0.001 0.088 . intron_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 19/35 1 NA ATG T,C 1.655e-05 5:41018800 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 intron_variant -0.256164 0.16695 0.02212 0.053691 0.299294264268339 0.0840473 1.28868466121395e-26 FALSE 8.12922e-06 ENSE00001268391_033 ENSE00001268391 033 5 41018761 41018930 - 32 96 42 C G 41018917 614 14 TGAGAATCAGTTTGAGTGGAGGCTCTACTCACATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAACTGAAATCAAATATGTGTGTGTGAGTCTGAGGCTGGGGTGAG 41018658 41018828 41018814 41018815 41018815 upstr_intron -29 -0.666666666666667 CTCACCCCAGCCTCAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA mutant NA NA NA NA NA 897 371 0.996838405471599 0.994261233529393 0.995549819500496 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 NA NA 0.0339484843415697 0.00772154672131409 0.983420828160771 0.974714803969054 NA 0.0208350155314419 NA FALSE NA 0 0.25 . intron_variant&non_coding_transcript_variant MODIFIER MROH2B HGNC 26857 ENST00000515297 19/35 rs371140502 1 NA G:0 G:0.0004 TCA C,G 1.654e-05 5:41018815 MROH2B HGNC Symbol protein_coding 73325 ENSG00000171495 ENSE00003566307 intron_variant 0.233247 0.20452 0.02912 0.053691 0.359326705201696 0.0840473 1.28868466121395e-26 FALSE 4.06623e-06 ENSE00001268391_BRK ENSE00001268391 BRK 5 41018761 41018930 - 32 96 42 A,G; T,T NA NA NA TGAGAATCAGTTTGAGTGGAGGCTCTACTCGGATTAAACATTTCTTGACAGTCCTCTGCATTCACATTATCCCACATCATGGTCTTCAGAAGTTTTCCTAGGGCGTCCATGGATCGTTCATAGAGAAAAAGAAATCAAATATGTGTGTGTGAGTCTCAGGCTGGGGTGAG 41018658 41018828 NA NA NA NA NA NA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCTTTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATCCGAGTAGAGCCTCCACTCAAACTGATTCTCA CTCACCCCAGCCTGAGACTCACACACACATATTTGATTTCAGTTTCTCTATGAACGATCCATGGACGCCCTAGGAAAACTTCTGAAGACCATGATGTGGGATAATGTGAATGCAGAGGACTGTCAAGAAATGTTTAATGTGAGTAGAGCCTCCACTCAAACTGATTCTCA control 156 17 0 0 0 NA NA NA NA NA 0.974984414650887 0.991857241670655 0.96288992113003 0.986539686808078 -0.974984414650887 -0.991857241670655 NA NA 0.983420828160771 0.974714803969054 -0.983420828160771 NA NA NA TRUE NA NA NA NA NA MROH2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MROH2B NA NA NA ENSG00000171495 ENSE00003566307 NA NA NA NA NA NA NA 1.28868466121395e-26 FALSE NA ENSE00001269614_000 ENSE00001269614 000 19 12842117 12842286 - 41 78 51 NA NA NA NA NA AAAGGCAATGTGGGTGGACCCCCTGCACCAAGCTGGCTCACCTCATCCTCCGTCTTCTGCTTCTTGGCTACTATTCCCGTCTTGAGGGCTAGTTTGTTCCCGCCTCTGCGTTTGCCCACCTGGGTGAAGGGACAGAAGACTGCAACGGTTACAGGAGCCGGGACCGCCCT 12731302 12731472 NA NA NA NA NA NA AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT natural 146 220 0.85 0.85 0.85 187 150 0.861844547717964 0.832573680903658 0.847209114310811 0.85 0.85 0.861844547717964 0.832573680903658 0 0 0 0 0.85 0.847209114310811 0 0 0 FALSE FALSE NA NA NA NA NA C19orf43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIR NA NA NA ENSG00000123144 ENSE00003584888 NA NA NA NA NA NA NA NA NA NA ENSE00001269614_004 ENSE00001269614 004 19 12842117 12842286 - 41 78 51 C T 12842135 1089 152 AAAGGCAATGTGGGTGGATCCCCTGCACCAAGCTGGCTCACCTCATCCTCCGTCTTCTGCTTCTTGGCTACTATTCCCGTCTTGAGGGCTAGTTTGTTCCCGCCTCTGCGTTTGCCCACCTGGGTGAAGGGACAGAAGACTGCAACGGTTACAGGAGCCGGGACCGCCCT 12731302 12731472 12731320 12731321 12731321 downstr_intron 23 1.575 AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGATCCACCCACATTGCCTTT AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT mutant NA NA NA NA NA 16 300 0.8 0.806749552745087 0.803374776372543 0.85 0.85 0.861844547717964 0.832573680903658 NA NA -0.0618445477179635 -0.0258241281585713 0.85 0.847209114310811 NA -0.0438343379382674 NA FALSE NA 0 -0.303 . intron_variant MODIFIER C19orf43 HGNC 28424 ENST00000242784 2/2 rs201118967 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACC C,T 8.236e-06 19:12731321 TRIR HGNC Symbol protein_coding 4135 ENSG00000123144 ENSE00003584888 intron_variant -0.691542 0.16357 0.08915 0.139865 0.384448279296424 0.0540638 NA NA NA ENSE00001269614_008 ENSE00001269614 008 19 12842117 12842286 - 41 78 51 C T 12842217 1093 70 AAAGGCAATGTGGGTGGACCCCCTGCACCAAGCTGGCTCACCTCATCCTCCGTCTTCTGCTTCTTGGCTACTATTCCCGTCTTGAGGGCTAGTTTGTTCCTGCCTCTGCGTTTGCCCACCTGGGTGAAGGGACAGAAGACTGCAACGGTTACAGGAGCCGGGACCGCCCT 12731302 12731472 12731402 12731403 12731403 exon 19 0.243589743589744 AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCAGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT mutant NA NA NA NA NA 35 83 0.871244069765084 0.8 0.835622034882542 0.85 0.85 0.861844547717964 0.832573680903658 NA NA 0.00939952204712058 -0.0325736809036578 0.85 0.847209114310811 NA -0.0115870794282686 NA FALSE NA 1 7.122 rs186539758 missense_variant MODERATE C19orf43 HGNC 28424 ENST00000242784 2/3 rs186539758 1 deleterious(0) probably_damaging(0.998) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 1.647e-05 19:12731403 TRIR HGNC Symbol protein_coding 4135 ENSG00000123144 ENSE00003584888 missense_variant 7.44714 0.96858 0.96037 0.706548 0.998976441184918 0 NA NA 2.8497e-05 ENSE00001269614_012 ENSE00001269614 012 19 12842117 12842286 - 41 78 51 T A 12842241 1097 46 AAAGGCAATGTGGGTGGACCCCCTGCACCAAGCTGGCTCACCTCATCCTCCGTCTTCTGCTTCTTGGCTACTATTCCCGTCTTGAGGGCTAGTTTGTTCCCGCCTCTGCGTTTGCCCACCTGGGAGAAGGGACAGAAGACTGCAACGGTTACAGGAGCCGGGACCGCCCT 12731302 12731472 12731426 12731427 12731427 upstr_intron -6 -0.0980392156862745 AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCTCCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT mutant NA NA NA NA NA 54 62 0.979247654520588 0.949227727489799 0.964237691005194 0.85 0.85 0.861844547717964 0.832573680903658 NA NA 0.117403106802624 0.116654046586141 0.85 0.847209114310811 NA 0.117028576694383 NA FALSE NA 1 2.664 . splice_region_variant&intron_variant LOW C19orf43 HGNC 28424 ENST00000242784 1/2 rs372009797 1 NA A:0.0005 A:0 GTG T,A 2.471e-05 19:12731427 TRIR HGNC Symbol protein_coding 4135 ENSG00000123144 ENSE00003584888 splice_region_variant 1.680526 0.92789 0.86054 0.256867 0.913261187705236 0.627795 NA NA 8.18511e-06 ENSE00001269614_015 ENSE00001269614 015 19 12842117 12842286 - 41 78 51 G A 12842264 1100 23 AAAGGCAATGTGGGTGGACCCCCTGCACCAAGCTGGCTCACCTCATCCTCCGTCTTCTGCTTCTTGGCTACTATTCCCGTCTTGAGGGCTAGTTTGTTCCCGCCTCTGCGTTTGCCCACCTGGGTGAAGGGACAGAAGACTGCAACGATTACAGGAGCCGGGACCGCCCT 12731302 12731472 12731449 12731450 12731450 upstr_intron -29 -0.549019607843137 AGGGCGGTCCCGGCTCCTGTAATCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT AGGGCGGTCCCGGCTCCTGTAACCGTTGCAGTCTTCTGTCCCTTCACCCAGGTGGGCAAACGCAGAGGCGGGAACAAACTAGCCCTCAAGACGGGAATAGTAGCCAAGAAGCAGAAGACGGAGGATGAGGTGAGCCAGCTTGGTGCAGGGGGTCCACCCACATTGCCTTT mutant NA NA NA NA NA 729 71 0.802006978673922 0.8 0.801003489336961 0.85 0.85 0.861844547717964 0.832573680903658 NA NA -0.0598375690440412 -0.0325736809036578 0.85 0.847209114310811 NA -0.0462056249738495 NA FALSE NA 1 7.14 rs144776764 intron_variant MODIFIER C19orf43 HGNC 28424 ENST00000242784 1/2 rs144776764 1 A:0.0024 A:0.0091 A:0 NA A:0 A:0 A:0 A:0.0036 A:0.0002 GGT G,A 0.0003624 19:12731450 TRIR HGNC Symbol protein_coding 4135 ENSG00000123144 ENSE00003584888 3_prime_UTR_variant 2.159561 0.92609 0.94285 0.256867 0.886242679773947 0.562849 NA NA 0.000316461 ENSE00001269937_000 ENSE00001269937 000 1 28944424 28944593 - 41 78 51 NA NA NA NA NA TTCTCAGGGACCAGTTTCTGGGGTACCCAACCCCACCTTACCTCCTCCACATCTTCATCCAACTGCTCATTAGGATCCACTTCTCTTACTAAGTCCTGTAATTTCTTCTTGGTCAATACCTAAAGTTAATTGGAAGAAGACTTTTCAACCAGATATTAAGGAAATGAAAC 28617911 28618081 NA NA NA NA NA NA GTTTCATTTCCTTAATATCTGGTTGAAAAGTCTTCTTCCAATTAACTTTAGGTATTGACCAAGAAGAAATTACAGGACTTAGTAAGAGAAGTGGATCCTAATGAGCAGTTGGATGAAGATGTGGAGGAGGTAAGGTGGGGTTGGGTACCCCAGAAACTGGTCCCTGAGAA GTTTCATTTCCTTAATATCTGGTTGAAAAGTCTTCTTCCAATTAACTTTAGGTATTGACCAAGAAGAAATTACAGGACTTAGTAAGAGAAGTGGATCCTAATGAGCAGTTGGATGAAGATGTGGAGGAGGTAAGGTGGGGTTGGGTACCCCAGAAACTGGTCCCTGAGAA natural NA NA NA NA NA 683 356 0.990764199038386 0.913714242118491 0.952239220578439 NA NA 0.990764199038386 0.913714242118491 NA NA 0 0 NA 0.952239220578439 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003688175 NA NA NA NA NA NA NA 0.454891016173085 FALSE NA ENSE00001270464_000 ENSE00001270464 000 1 42693516 42693685 - 38 84 48 NA NA NA NA NA TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 NA NA NA NA NA NA TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG natural 111 129 0.998938211339649 0.994287249861444 0.996612730600546 7521 8085 0.936751839943132 0.911930876332795 0.924341358137963 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 0 0 0 0 0.996612730600546 0.924341358137963 0 0 0 FALSE FALSE NA NA NA NA NA FOXJ3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOXJ3 NA NA NA ENSG00000198815 ENSE00001270464 NA NA NA NA NA NA NA 0.977575009123256 TRUE NA ENSE00001270464_001 ENSE00001270464 001 1 42693516 42693685 - 38 84 48 T C 42693529 1609 157 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTGGTGTAATGCATTG 42227844 42228014 42227857 42227858 42227858 downstr_intron 25 1.67567567567568 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTGGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 54 12 1 1 1 615 417 0.994218052382295 1 0.997109026191148 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 0.00106178866035089 0.00571275013855643 0.0574662124391629 0.0880691236672054 0.996612730600546 0.924341358137963 0.00338726939945366 0.0727676680531842 0.0693803986537305 FALSE FALSE 0 -0.274 . intron_variant MODIFIER FOXJ3 HGNC 29178 ENST00000372572 7/14 rs536653575 1 C:0.0004 C:0 C:0.0029 NA C:0 C:0 C:0 CTA T,C 8.236e-06 1:42227858 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 intron_variant 0.185214 0.20613 0.05068 0.162113 0.513048135057969 0.0675711 0.977575009123256 TRUE 4.28181e-06 ENSE00001270464_002 ENSE00001270464 002 1 42693516 42693685 - 38 84 48 A G 42693530 1610 156 CAATGCATTACACTGAATTTATGATAAAGAGCCTTTACCCGTTCTACAGATCGTGCCCTCTTCTTTGGCCGAGTAGGCAGCACATCTTCCTTCGGATTGGTGTCTATTGCCCAGTAGGACCCCTAGAGGTAAAGAAATTATATTAACAGTATATTACAGCAAACCTATGA 42227844 42228014 42227858 42227859 42227859 downstr_intron 24 1.64864864864865 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTCAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 15 29 1 1 1 614 437 0.999750332451309 0.990889041655045 0.995319687053177 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 0.00106178866035089 0.00571275013855643 0.0629984925081766 0.0789581653222505 0.996612730600546 0.924341358137963 0.00338726939945366 0.0709783289152136 0.0675910595157599 FALSE FALSE 0.001 0.006 . intron_variant MODIFIER FOXJ3 HGNC 29178 ENST00000372572 7/14 1 NA TAA A,G 1.647e-05 1:42227859 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 intron_variant 0.295373 0.22913 0.10203 0.162113 0.461655947168607 0.0675711 0.977575009123256 TRUE 1.28419e-05 ENSE00001270464_003 ENSE00001270464 003 1 42693516 42693685 - 38 84 48 G A 42693538 1611 148 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATTATAAATTTAGTGTAATGCATTG 42227844 42228014 42227866 42227867 42227867 downstr_intron 16 1.43243243243243 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATTATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 28 23 0.998711095581332 0.954138462011418 0.976424778796375 29 790 1 0.999799755091058 0.999899877545529 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 -0.000227115758317242 -0.0401487878500258 0.0632481600568677 0.0878688787582638 0.996612730600546 0.924341358137963 -0.0201879518041715 0.0755585194075657 0.0957464712117373 FALSE FALSE 0 0.21 . intron_variant MODIFIER FOXJ3 HGNC 29178 ENST00000372572 7/14 1 NA TGA G,A 8.236e-06 1:42227867 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 intron_variant 0.086071 0.18091 0.06203 0.262962 0.570336186456664 0.193723 0.977575009123256 TRUE NA ENSE00001270464_004 ENSE00001270464 004 1 42693516 42693685 - 38 84 48 A G 42693541 1612 145 CAATGCATTACACTAAATTTATGATGAAGAGCCTTTACCCGTTCTACAGATCGTGCCCTCTTCTTTGGCCGAGTAGGCAGCACATCTTCCTTCGGATTGGTGTCTATTGCCCAGTAGGACCCCTAGAGGTAAAGAAATTATATTAACAGTATATTACAGCAAACCTATGA 42227844 42228014 42227869 42227870 42227870 downstr_intron 13 1.35135135135135 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTCATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 58 18 0.965435000401353 0.998569338692099 0.982002169546726 3030 1059 0.997875253914688 0.99930913953874 0.998592196726714 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 -0.0335032109382961 0.00428208883065573 0.0611234139715555 0.0873782632059453 0.996612730600546 0.924341358137963 -0.0146105610538202 0.0742508385887504 0.0888613996425706 FALSE FALSE 0.227 1.439 rs141211937 intron_variant MODIFIER FOXJ3 HGNC 29178 ENST00000372572 7/14 rs141211937 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0001 TAA A,G 0.0001483 1:42227870 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 intron_variant 0.584413 0.95854 0.57544 0.162113 0.55180278078729 0.215227 0.977575009123256 TRUE 0.000167465 ENSE00001270464_005 ENSE00001270464 005 1 42693516 42693685 - 38 84 48 A G 42693543 1613 143 CAATGCATTACACTAAATTTATGATAAGGAGCCTTTACCCGTTCTACAGATCGTGCCCTCTTCTTTGGCCGAGTAGGCAGCACATCTTCCTTCGGATTGGTGTCTATTGCCCAGTAGGACCCCTAGAGGTAAAGAAATTATATTAACAGTATATTACAGCAAACCTATGA 42227844 42228014 42227871 42227872 42227872 downstr_intron 11 1.2972972972973 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCCTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant NA NA NA NA NA 1236 208 0.792492819386598 0.989375369256718 0.890934094321658 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 NA NA -0.144259020556534 0.0774444929239232 0.996612730600546 0.924341358137963 NA -0.0334072638163055 NA FALSE NA 0.252 0.362 . intron_variant MODIFIER FOXJ3 HGNC 29178 ENST00000372572 7/14 rs377068910 1 NA G:0 G:0.0001 AAG A,G 5.765e-05 1:42227872 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 intron_variant 0.917174 0.96096 0.39159 0.162113 0.598046730685011 0.212366 0.977575009123256 TRUE 5.17099e-05 ENSE00001270464_006 ENSE00001270464 006 1 42693516 42693685 - 38 84 48 T A 42693581 1614 105 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCTAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227909 42227910 42227910 exon -28 0.678571428571429 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCTAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 24 11 1 1 1 946 813 0.994265799189774 0.99942950267267 0.996847650931222 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 0.00106178866035089 0.00571275013855643 0.0575139592466414 0.0874986263398758 0.996612730600546 0.924341358137963 0.00338726939945366 0.0725062927932586 0.0691190233938049 FALSE FALSE 1 3.435 . synonymous_variant LOW FOXJ3 HGNC 29178 ENST00000372572 7/15 1 NA TTG T,A 8.236e-06 1:42227910 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 synonymous_variant 0.879967 0.98518 0.91222 0.736574 0.821167294231017 0 0.977575009123256 TRUE 4.08533e-06 ENSE00001270464_007 ENSE00001270464 007 1 42693516 42693685 - 38 84 48 G A 42693586 1615 100 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTTGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227914 42227915 42227915 exon -33 0.619047619047619 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTTGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant NA NA NA NA NA 1232 1214 0.99783655719642 0.999806921320414 0.998821739258417 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 NA NA 0.0610847172532872 0.0878760449876193 0.996612730600546 0.924341358137963 NA 0.0744803811204532 NA FALSE NA 1 5.924 . missense_variant MODERATE FOXJ3 HGNC 29178 ENST00000372572 7/15 1 deleterious(0) possibly_damaging(0.863) NA CGA G,A 8.236e-06 1:42227915 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 missense_variant 7.956535 0.99126 0.94892 0.736574 0.999271067480971 0 0.977575009123256 TRUE NA ENSE00001270464_008 ENSE00001270464 008 1 42693516 42693685 - 38 84 48 G T 42693595 1616 91 CAATGCATTACACTAAATTTATGATAAAGAGCCTTTACCCGTTCTACAGATCGTGCCCTCTTCTTTGGCCGAGTAGGCATCACATCTTCCTTCGGATTGGTGTCTATTGCCCAGTAGGACCCCTAGAGGTAAAGAAATTATATTAACAGTATATTACAGCAAACCTATGA 42227844 42228014 42227923 42227924 42227924 exon -42 0.511904761904762 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGATGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant NA NA NA NA NA 93 1455 0.921659251794387 1 0.960829625897194 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 NA NA -0.0150925881487451 0.0880691236672054 0.996612730600546 0.924341358137963 NA 0.0364882677592301 NA FALSE NA 0.774 0.697 . missense_variant MODERATE FOXJ3 HGNC 29178 ENST00000372572 7/15 1 tolerated(0.07) possibly_damaging(0.611) NA AGC G,T 8.236e-06 1:42227924 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 missense_variant 3.910947 0.96855 0.45767 0.736574 0.99524106146328 0 0.977575009123256 TRUE NA ENSE00001270464_009 ENSE00001270464 009 1 42693516 42693685 - 38 84 48 C T 42693596 1617 90 CAATGCATTACACTAAATTTATGATAAAGAGCCTTTACCCGTTCTACAGATCGTGCCCTCTTCTTTGGCCGAGTAGGCAGTACATCTTCCTTCGGATTGGTGTCTATTGCCCAGTAGGACCCCTAGAGGTAAAGAAATTATATTAACAGTATATTACAGCAAACCTATGA 42227844 42228014 42227924 42227925 42227925 exon 42 0.5 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTACTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant NA NA NA NA NA 169 709 0.999092013028354 0.998482744714645 0.998787378871499 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 NA NA 0.062340173085222 0.0865518683818501 0.996612730600546 0.924341358137963 NA 0.0744460207335361 NA FALSE NA 0.014 -1.69 rs145937087 synonymous_variant LOW FOXJ3 HGNC 29178 ENST00000372572 7/15 1 NA GCA C,T 4.942e-05 1:42227925 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 synonymous_variant 1.911046 0.95236 0.03713 0.736574 0.676695903354364 0 0.977575009123256 TRUE 4.49449e-05 ENSE00001270464_010 ENSE00001270464 010 1 42693516 42693685 - 38 84 48 A G 42693597 1618 89 CAATGCATTACACTAAATTTATGATAAAGAGCCTTTACCCGTTCTACAGATCGTGCCCTCTTCTTTGGCCGAGTAGGCAGCGCATCTTCCTTCGGATTGGTGTCTATTGCCCAGTAGGACCCCTAGAGGTAAAGAAATTATATTAACAGTATATTACAGCAAACCTATGA 42227844 42228014 42227925 42227926 42227926 exon 41 0.488095238095238 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGCGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant NA NA NA NA NA 798 608 0.975116607829093 0.98971792117041 0.982417264499751 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 NA NA 0.0383647678859604 0.077787044837615 0.996612730600546 0.924341358137963 NA 0.0580759063617877 NA FALSE NA 0.999 4.028 rs343376 missense_variant MODERATE FOXJ3 HGNC 29178 ENST00000372572 7/15 rs343376&COSM3746966 1 tolerated(0.62) benign(0) A:0.2047 G:0.7632 G:0.8862 NA G:0.8482 G:0.7913 G:0.7239 G:0.7667 G:0.7903 CAC G,G 0.803 1:42227926 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 missense_variant 1.326202 0.92735 0.03372 0.736574 0.91955993845471 0 0.977575009123256 TRUE 0.808046 ENSE00001270464_011 ENSE00001270464 011 1 42693516 42693685 - 38 84 48 T C 42693602 1619 84 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAGGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227930 42227931 42227931 exon 36 0.428571428571429 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAGGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 15 49 0.996053910288464 0.982932519542829 0.989493214915646 339 1941 0.997794148192737 0.93230012116538 0.965047134679059 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 -0.0028843010511852 -0.0113547303186147 0.0610423082496047 0.0203692448325856 0.996612730600546 0.924341358137963 -0.00711951568489994 0.0407057765410951 0.0478252922259951 FALSE FALSE 1 2.368 . synonymous_variant LOW FOXJ3 HGNC 29178 ENST00000372572 7/15 1 NA CTT T,C 8.236e-06 1:42227931 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 synonymous_variant 0.291688 0.97384 0.61754 0.736574 0.687593577383005 0 0.977575009123256 TRUE 4.0855e-06 ENSE00001270464_012 ENSE00001270464 012 1 42693516 42693685 - 38 84 48 C T 42693608 1620 78 CAATGCATTACACTAAATTTATGATAAAGAGCCTTTACCCGTTCTACAGATCGTGCCCTCTTCTTTGGCCGAGTAGGCAGCACATCTTCCTTTGGATTGGTGTCTATTGCCCAGTAGGACCCCTAGAGGTAAAGAAATTATATTAACAGTATATTACAGCAAACCTATGA 42227844 42228014 42227936 42227937 42227937 exon 30 0.357142857142857 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCAAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 56 14 0.9585814119101 0.999162117776843 0.978871764843472 1674 517 0.999185895647185 1 0.999592947823593 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 -0.0403567994295492 0.00487486791539971 0.0624340557040527 0.0880691236672054 0.996612730600546 0.924341358137963 -0.0177409657570747 0.0752515896856291 0.0929925554427038 FALSE FALSE 1 0.341 . synonymous_variant LOW FOXJ3 HGNC 29178 ENST00000372572 7/15 rs377015006&COSM4008035 1 NA T:0 T:0.0001 TCG C,T 2.471e-05 1:42227937 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 synonymous_variant 2.479735 0.96355 0.46295 0.736574 0.692387112952735 0 0.977575009123256 TRUE 2.04491e-05 ENSE00001270464_013 ENSE00001270464 013 1 42693516 42693685 - 38 84 48 G A 42693609 1621 77 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCTGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227937 42227938 42227938 exon 29 0.345238095238095 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCTGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 14 13 1 1 1 20 574 1 0.992752622945213 0.996376311472607 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 0.00106178866035089 0.00571275013855643 0.0632481600568677 0.0808217466124184 0.996612730600546 0.924341358137963 0.00338726939945366 0.072034953334643 0.0686476839351894 FALSE FALSE 1 7.77 . missense_variant MODERATE FOXJ3 HGNC 29178 ENST00000372572 7/15 1 deleterious(0) possibly_damaging(0.624) NA CGG G,A 2.471e-05 1:42227938 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 missense_variant 7.08864 0.99134 0.96904 0.736574 0.998456027369819 0 0.977575009123256 TRUE 2.04546e-05 ENSE00001270464_014 ENSE00001270464 014 1 42693516 42693685 - 38 84 48 G A 42693614 1622 72 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACTAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227942 42227943 42227943 exon 24 0.285714285714286 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACTAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 36 64 0.990142332029536 1 0.995071166014768 539 658 0.999847197454181 0.80130994791864 0.90057857268641 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 -0.00879587931011305 0.00571275013855643 0.0630953575110488 -0.110620928414155 0.996612730600546 0.924341358137963 -0.00154156458577831 -0.0237627854515531 0.0222212208657748 FALSE FALSE 1 2.5 . synonymous_variant LOW FOXJ3 HGNC 29178 ENST00000372572 7/15 1 NA TGG G,A 8.236e-06 1:42227943 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 synonymous_variant 1.049346 0.97289 0.82012 0.736574 0.620080368162179 0 0.977575009123256 TRUE NA ENSE00001270464_015 ENSE00001270464 015 1 42693516 42693685 - 38 84 48 T C 42693622 1623 64 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAGTAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227950 42227951 42227951 exon 16 0.19047619047619 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAGTAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 69 30 0.998638669549616 0.987314251008047 0.992976460278832 145 3078 0.992982927042262 0.961475846869606 0.977229386955934 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 -0.000299541790032665 -0.00697299885339697 0.0562310870991297 0.0495449705368111 0.996612730600546 0.924341358137963 -0.00363627032171482 0.0528880288179704 0.0565242991396852 FALSE FALSE 1 6.356 . missense_variant MODERATE FOXJ3 HGNC 29178 ENST00000372572 7/15 1 deleterious(0.01) probably_damaging(0.962) NA ATT T,C 1.647e-05 1:42227951 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 missense_variant 5.463024 0.98857 0.9478 0.736574 0.998878099293124 0 0.977575009123256 TRUE 1.64124e-05 ENSE00001270464_016 ENSE00001270464 016 1 42693516 42693685 - 38 84 48 C A 42693625 1624 61 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGTCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227953 42227954 42227954 exon 13 0.154761904761905 TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGTCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 15 22 1 0.987630318087548 0.993815159043774 953 179 1 0.991724964001769 0.995862482000884 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 0.00106178866035089 -0.00665693177389526 0.0632481600568677 0.079794087668974 0.996612730600546 0.924341358137963 -0.00279757155677218 0.0715211238629209 0.074318695419693 FALSE FALSE 1 6.183 . missense_variant MODERATE FOXJ3 HGNC 29178 ENST00000372572 7/15 COSM70814 1 deleterious(0.03) benign(0.024) NA GCC C,A 8.236e-06 1:42227954 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 missense_variant 3.251937 0.98613 0.95169 0.736574 0.99372029756402 0 0.977575009123256 TRUE NA ENSE00001270464_017 ENSE00001270464 017 1 42693516 42693685 - 38 84 48 G T 42693664 1625 22 CAATGCATTACACTAAATTTATGATAAAGAGCCTTTACCCGTTCTACAGATCGTGCCCTCTTCTTTGGCCGAGTAGGCAGCACATCTTCCTTCGGATTGGTGTCTATTGCCCAGTAGGACCCCTAGAGGTAAAGAAATTATATTAACATTATATTACAGCAAACCTATGA 42227844 42228014 42227992 42227993 42227993 upstr_intron -27 -0.541666666666667 TCATAGGTTTGCTGTAATATAATGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant NA NA NA NA NA 711 813 0.998953457723091 0.99995317609622 0.999453316909656 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 NA NA 0.0622016177799589 0.0880222997634257 0.996612730600546 0.924341358137963 NA 0.0751119587716923 NA FALSE NA 0 -0.28 . intron_variant MODIFIER FOXJ3 HGNC 29178 ENST00000372572 6/14 1 NA AGT G,T 8.237e-06 1:42227993 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 intron_variant 0.057484 0.18965 0.04599 0.084033 0.508881480388509 0.0675711 0.977575009123256 TRUE 9.41283e-06 ENSE00001270464_018 ENSE00001270464 018 1 42693516 42693685 - 38 84 48 T C 42693665 1626 21 TCATAGGTTTGCTGTAATATGCTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227993 42227994 42227994 upstr_intron -28 -0.5625 TCATAGGTTTGCTGTAATATGCTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant 12 37 0.971247543531276 0.991213426113795 0.981230484822535 1920 576 0.997414125121482 1 0.998707062560741 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 -0.0276906678083735 -0.00307382374764886 0.0606622851783499 0.0880691236672054 0.996612730600546 0.924341358137963 -0.0153822457780112 0.0743657044227777 0.0897479502007889 FALSE FALSE 0 -0.014 . intron_variant MODIFIER FOXJ3 HGNC 29178 ENST00000372572 6/14 1 NA GTA T,C 8.237e-06 1:42227994 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 intron_variant 0.128006 0.2048 0.02025 0.084033 0.606521974457757 0.0675711 0.977575009123256 TRUE 4.65818e-06 ENSE00001270464_019 ENSE00001270464 019 1 42693516 42693685 - 38 84 48 T C 42693667 1627 19 TCATAGGTTTGCTGTAATGTACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 42227995 42227996 42227996 upstr_intron -30 -0.604166666666667 TCATAGGTTTGCTGTAATGTACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG mutant NA NA NA NA NA 2120 666 0.936632846457232 0.999467402538318 0.968050124497775 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 NA NA -0.000118993485900498 0.0875365262055238 0.996612730600546 0.924341358137963 NA 0.0437087663598116 NA FALSE NA 0.042 0.929 . intron_variant MODIFIER FOXJ3 HGNC 29178 ENST00000372572 6/14 1 NA ATA T,C 8.237e-06 1:42227996 FOXJ3 HGNC Symbol protein_coding 159338 ENSG00000198815 ENSE00001270464 intron_variant 0.159911 0.20444 0.47153 0.084033 0.561118417631897 0.0675711 0.977575009123256 TRUE 4.72621e-06 ENSE00001270464_BRK ENSE00001270464 BRK 1 42693516 42693685 - 38 84 48 A,G; T,T NA NA NA TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTTTGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGCCAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG 42227844 42228014 NA NA NA NA NA NA TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTTTGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGCCAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG TCATAGGTTTGCTGTAATATACTGTTAATATAATTTCTTTACCTCTAGGGGTCCTACTGGGCAATAGACACCAATCCGAAGGAAGATGTGCTGCCTACTCGGCCAAAGAAGAGGGCACGATCTGTAGAACGGGTAAAGGCTCTTTATCATAAATTTAGTGTAATGCATTG control 46 61 0 0 0 1171 92 0.0020929423245427 0.00704187808941995 0.00456741020698133 0.998938211339649 0.994287249861444 0.936751839943132 0.911930876332795 -0.998938211339649 -0.994287249861444 -0.93465889761859 -0.904888998243375 0.996612730600546 0.924341358137963 -0.996612730600546 -0.919773947930982 0.0768387826695642 TRUE TRUE NA NA NA NA NA FOXJ3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOXJ3 NA NA NA ENSG00000198815 ENSE00001270464 NA NA NA NA NA NA NA 0.977575009123256 TRUE NA ENSE00001271990_000 ENSE00001271990 000 14 81961374 81961543 - 51 57 62 NA NA NA NA NA CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 NA NA NA NA NA NA CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT natural NA NA NA NA NA 1519 1991 0.926256709754812 0.971195903725867 0.94872630674034 NA NA 0.926256709754812 0.971195903725867 NA NA 0 0 NA 0.94872630674034 NA 0 NA FALSE NA NA NA NA NA NA SEL1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEL1L NA NA NA ENSG00000071537 ENSE00001271990 NA NA NA NA NA NA NA 0.704308255469323 FALSE NA ENSE00001271990_001 ENSE00001271990 001 14 81961374 81961543 - 51 57 62 T C 81961397 1343 147 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCGTCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495052 81495053 81495053 downstr_intron 28 1.56 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCGTCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 462 567 0.990237922372845 0.999932852401352 0.995085387387099 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0639812126180331 0.0287369486754847 NA 0.94872630674034 NA 0.0463590806467589 NA FALSE NA 0 -1.791 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA ATG T,C 8.236e-06 14:81495053 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 intron_variant 0.119713 0.19468 0.0176 0.295142 0.507180164829063 0.123385 0.704308255469323 FALSE 1.23808e-05 ENSE00001271990_002 ENSE00001271990 002 14 81961374 81961543 - 51 57 62 G A 81961403 1344 141 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGTTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495058 81495059 81495059 downstr_intron 22 1.44 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGTTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 2719 49 0.999316905074613 1 0.999658452537306 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0730601953198007 0.0288040962741327 NA 0.94872630674034 NA 0.0509321457969667 NA FALSE NA 0.62 1.334 rs140494504 downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 rs140494504 1 A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 A:0.0005 A:0.0028 AGC G,A 0.001359 14:81495059 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 intron_variant 0.47502 0.27723 0.43347 0.295142 0.700095359924114 0.123385 0.704308255469323 FALSE 0.00140836 ENSE00001271990_003 ENSE00001271990 003 14 81961374 81961543 - 51 57 62 A T 81961408 1345 136 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCAAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495063 81495064 81495064 downstr_intron 17 1.34 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCAAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant 25 92 0.957429500651408 0.925004797617826 0.941217149134617 1654 1067 0.999975116292153 0.999314337848926 0.99964472707054 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0737184065373411 0.0281184341230584 NA 0.94872630674034 NA 0.0509184203301997 NA FALSE NA 0 0.038 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA TAG A,T 8.236e-06 14:81495064 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 intron_variant 0.219729 0.25799 0.15293 0.295142 0.603322359509443 0.123385 0.704308255469323 FALSE 8.16793e-06 ENSE00001271990_004 ENSE00001271990 004 14 81961374 81961543 - 51 57 62 T C 81961422 1346 122 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTGACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495077 81495078 81495078 downstr_intron 3 1.06 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTGACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 1021 162 0.998580652913323 0.920317381209073 0.959449017061198 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0723239431585108 -0.0508785225167947 NA 0.94872630674034 NA 0.010722710320858 NA FALSE NA 1 3.561 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA TTA T,C 8.236e-06 14:81495078 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 splice_region_variant 1.899622 0.98248 0.81687 0.295142 0.945102321145122 0.974057 0.704308255469323 FALSE 8.14127e-06 ENSE00001271990_005 ENSE00001271990 005 14 81961374 81961543 - 51 57 62 T C 81961435 1347 109 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACGGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495090 81495091 81495091 exon -11 0.824561403508772 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACGGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 496 361 0.922408921355502 0.999455811403434 0.960932366379468 NA NA 0.926256709754812 0.971195903725867 NA NA -0.00384778839931055 0.0282599076775664 NA 0.94872630674034 NA 0.0122060596391279 NA FALSE NA 1 7.426 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA CTG T,C 1.647e-05 14:81495091 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 missense_variant 3.184002 0.99363 0.99217 0.706548 0.997529001282488 0 0.704308255469323 FALSE 1.62645e-05 ENSE00001271990_007 ENSE00001271990 007 14 81961374 81961543 - 51 57 62 C T 81961447 1349 97 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCATGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495102 81495103 81495103 exon -23 0.614035087719298 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCATGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 2874 238 0.996946684075317 0.986182069394432 0.991564376734874 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0706899743205043 0.0149861656685646 NA 0.94872630674034 NA 0.0428380699945344 NA FALSE NA 1 7.223 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA ACG C,T 1.647e-05 14:81495103 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 missense_variant 7.112052 0.99527 0.99294 0.706548 0.999330020129428 0 0.704308255469323 FALSE 8.12982e-06 ENSE00001271990_008 ENSE00001271990 008 14 81961374 81961543 - 51 57 62 G A 81961455 1350 89 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCATGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495110 81495111 81495111 exon 27 0.473684210526316 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCATGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 165 375 0.998746209411576 1 0.999373104705788 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0724894996567641 0.0288040962741327 NA 0.94872630674034 NA 0.0506467979654484 NA FALSE NA 0 -1.223 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA CGT G,A 2.471e-05 14:81495111 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 synonymous_variant 1.371029 0.90066 0.09057 0.706548 0.574213359301079 0 0.704308255469323 FALSE 1.21927e-05 ENSE00001271990_009 ENSE00001271990 009 14 81961374 81961543 - 51 57 62 A T 81961465 1351 79 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACAGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495120 81495121 81495121 exon 17 0.298245614035088 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACAGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 221 256 1 0.990884473566648 0.995442236783324 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0737432902451878 0.0196885698407805 NA 0.94872630674034 NA 0.0467159300429841 NA FALSE NA 1 8.643 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 COSM1163068 1 NA CAG A,T 8.236e-06 14:81495121 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 missense_variant 6.8662 0.99391 0.99556 0.706548 0.992960694901642 0 0.704308255469323 FALSE 4.06454e-06 ENSE00001271990_010 ENSE00001271990 010 14 81961374 81961543 - 51 57 62 G A 81961484 1352 60 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTTAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495139 81495140 81495140 upstr_intron -3 -0.032258064516129 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTTAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 736 285 0.985921071998377 1 0.992960535999189 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0596643622435652 0.0288040962741327 NA 0.94872630674034 NA 0.044234229258849 NA FALSE NA 1 2.935 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA TGA G,A 1.647e-05 14:81495140 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 splice_region_variant 2.126016 0.98178 0.92974 0.156188 0.874171190403613 0.532876 0.704308255469323 FALSE 8.13438e-06 ENSE00001271990_011 ENSE00001271990 011 14 81961374 81961543 - 51 57 62 T A 81961492 1353 52 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGTTCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495147 81495148 81495148 upstr_intron -11 -0.161290322580645 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGTTCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 726 437 0.976156403294585 0.993060714384898 0.984608558839741 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0498996935397731 0.0218648106590302 NA 0.94872630674034 NA 0.0358822520994017 NA FALSE NA 0.001 0.056 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA ATC T,A 1.647e-05 14:81495148 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 intron_variant 0.522958 0.22387 0.01709 0.099367 0.689654738712636 0.137467 0.704308255469323 FALSE 2.03389e-05 ENSE00001271990_012 ENSE00001271990 012 14 81961374 81961543 - 51 57 62 C G 81961504 1354 40 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTCCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495159 81495160 81495160 upstr_intron -23 -0.354838709677419 CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTCCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 1141 1224 0.99874129136839 0.997659617171134 0.998200454269762 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0724845816135773 0.0264637134452668 NA 0.94872630674034 NA 0.049474147529422 NA FALSE NA 0.004 0.676 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 rs374101538 1 NA G:0.0002 G:0 GCA C,G 8.236e-06 14:81495160 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 intron_variant 0.800044 0.31051 0.23341 0.099367 0.672638468895961 0.124385 0.704308255469323 FALSE 4.07637e-06 ENSE00001271990_013 ENSE00001271990 013 14 81961374 81961543 - 51 57 62 G A 81961509 1355 35 CTGATTTTAATTGTGTGCCAGATGGTACCACTTATTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495164 81495165 81495165 upstr_intron -28 -0.435483870967742 CTGATTTTAATTGTGTGCCAGATGGTACCACTTATTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant 11 11 0.942525430450643 0.949782612873299 0.946154021661971 1100 162 0.997873828326358 0.999022493123478 0.998448160724918 NA NA 0.926256709754812 0.971195903725867 NA NA 0.071617118571546 0.0278265893976107 NA 0.94872630674034 NA 0.0497218539845783 NA FALSE NA 0.003 0.181 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA AGT G,A 8.236e-06 14:81495165 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 intron_variant 1.217779 0.39647 0.09989 0.099367 0.792198822799154 0.0890059 0.704308255469323 FALSE 8.1594e-06 ENSE00001271990_014 ENSE00001271990 014 14 81961374 81961543 - 51 57 62 T A 81961514 1356 30 CTGATTTTAATTGTGTGCCAGATGGTACCTCTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495169 81495170 81495170 upstr_intron -33 -0.516129032258065 CTGATTTTAATTGTGTGCCAGATGGTACCTCTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 238 22 1 1 1 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0737432902451878 0.0288040962741327 NA 0.94872630674034 NA 0.0512736932596602 NA FALSE NA 0 -0.009 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA GTG T,A 8.236e-06 14:81495170 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 intron_variant 0.991346 0.21533 0.05766 0.099367 0.827994388986581 0.0890059 0.704308255469323 FALSE NA ENSE00001271990_015 ENSE00001271990 015 14 81961374 81961543 - 51 57 62 C A 81961519 1357 25 CTGATTTTAATTGTGTGCCAGATGTTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 81495174 81495175 81495175 upstr_intron -38 -0.596774193548387 CTGATTTTAATTGTGTGCCAGATGTTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT mutant NA NA NA NA NA 84 3582 1 0.925296413734796 0.962648206867398 NA NA 0.926256709754812 0.971195903725867 NA NA 0.0737432902451878 -0.045899489991071 NA 0.94872630674034 NA 0.0139219001270584 NA FALSE NA 0 -0.209 . downstream_gene_variant MODIFIER SEL1L HGNC 10717 ENST00000554744 1 NA ACC C,A 8.236e-06 14:81495175 SEL1L HGNC Symbol protein_coding 62312 ENSG00000071537 ENSE00001271990 intron_variant 0.181763 0.20969 0.02766 0.099367 0.780358632468115 0.168314 0.704308255469323 FALSE 4.11215e-06 ENSE00001271990_BRK ENSE00001271990 BRK 14 81961374 81961543 - 51 57 62 A,G; T,T NA NA NA CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCTTGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGCCAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT 81495029 81495199 NA NA NA NA NA NA CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCTTGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGCCAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT CTGATTTTAATTGTGTGCCAGATGGTACCACTTACTTTTGCCTTGTTTGTGATCATTTTCAGGTTGGTCTTGGACAACTGCACCTGCACGGAGGGCGTGGAGTAGAACAGAATCATCAGGTAACTACCCTGTTCCTAGGGCTTTGCATCTCAGTTTTAGCAGGAAATGAT control 112 22 0 0.0915995369288736 0.0457997684644368 NA NA NA NA NA NA NA 0.926256709754812 0.971195903725867 NA NA NA NA NA 0.94872630674034 NA NA NA NA NA NA NA NA NA NA SEL1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEL1L NA NA NA ENSG00000071537 ENSE00001271990 NA NA NA NA NA NA NA 0.704308255469323 FALSE NA ENSE00001274300_000 ENSE00001274300 000 10 71706991 71707160 + 72 36 62 NA NA NA NA NA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 NA NA NA NA NA NA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA natural NA NA NA NA NA 2718 1027 0.646452099809457 0.674058685399207 0.660255392604332 NA NA 0.646452099809457 0.674058685399207 NA NA 0 0 NA 0.660255392604332 NA 0 NA FALSE NA NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00003635242 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00001274300_001 ENSE00001274300 001 10 71706991 71707160 + 72 36 62 G C 71707021 1477 31 CTGGAAGAAAGCACTGTACAGCTGGCCTGTCTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 69947264 69947265 69947265 upstr_intron -42 -0.569444444444444 CTGGAAGAAAGCACTGTACAGCTGGCCTGTCTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA mutant NA NA NA NA NA 731 104 0.998640972602148 0.993867897211106 0.996254434906627 NA NA 0.646452099809457 0.674058685399207 NA NA 0.352188872792692 0.319809211811899 NA 0.660255392604332 NA 0.335999042302295 NA FALSE NA 0 0.189 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 33/36 1 NA TGT G,C 8.27e-06 10:69947265 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003635242 intron_variant 0.011892 0.2794 0.11272 0.062308 0.638248759835119 0.116733 0.0039289675922385 FALSE 4.07252e-06 ENSE00001274300_004 ENSE00001274300 004 10 71706991 71707160 + 72 36 62 T C 71707040 1480 50 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCCTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 69947283 69947284 69947284 upstr_intron -23 -0.305555555555556 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCCTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA mutant NA NA NA NA NA 227 13 1 1 1 NA NA 0.646452099809457 0.674058685399207 NA NA 0.353547900190543 0.325941314600793 NA 0.660255392604332 NA 0.339744607395668 NA FALSE NA 0.065 1.533 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 33/36 1 NA CTT T,C 8.273e-06 10:69947284 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003635242 intron_variant 0.243337 0.2721 0.02544 0.062308 0.698420982947649 0.118175 0.0039289675922385 FALSE 4.06884e-06 ENSE00001274300_005 ENSE00001274300 005 10 71706991 71707160 + 72 36 62 T C 71707050 1481 60 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCCGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 69947293 69947294 69947294 upstr_intron -13 -0.166666666666667 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCCGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA mutant NA NA NA NA NA 136 64 1 0.826557000945309 0.913278500472654 NA NA 0.646452099809457 0.674058685399207 NA NA 0.353547900190543 0.152498315546102 NA 0.660255392604332 NA 0.253023107868323 NA FALSE NA 0.559 0.888 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 33/36 1 NA CTG T,C 8.274e-06 10:69947294 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003635242 intron_variant 0.764548 0.97539 0.54163 0.062308 0.667421672777706 0.407545 0.0039289675922385 FALSE 4.06719e-06 ENSE00001274300_008 ENSE00001274300 008 10 71706991 71707160 + 72 36 62 C G 71707080 1484 90 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCGGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 69947323 69947324 69947324 exon 18 0.5 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCGGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA mutant NA NA NA NA NA 185 237 0.998657596710064 0.994681770724571 0.996669683717317 NA NA 0.646452099809457 0.674058685399207 NA NA 0.352205496900607 0.320623085325364 NA 0.660255392604332 NA 0.336414291112986 NA FALSE NA 0.003 -1.496 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 34/37 rs555259357 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CCG C,G 3.31e-05 10:69947324 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003635242 synonymous_variant 1.867485 0.94245 0.1425 0.706548 0.694949684190877 0 0.0039289675922385 FALSE 2.8537e-05 ENSE00001274300_011 ENSE00001274300 011 10 71706991 71707160 + 72 36 62 C A 71707086 1487 96 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGAAAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 69947329 69947330 69947330 exon -13 0.666666666666667 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGAAAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA mutant NA NA NA NA NA 692 87 0.928011232997869 1 0.964005616498934 NA NA 0.646452099809457 0.674058685399207 NA NA 0.281559133188412 0.325941314600793 NA 0.660255392604332 NA 0.303750223894603 NA FALSE NA 1 0.456 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 34/37 1 tolerated(1) unknown(0) NA ACA C,A 8.276e-06 10:69947330 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003635242 missense_variant 4.966493 0.97516 0.864 0.706548 0.951875122659621 0 0.0039289675922385 FALSE 8.15341e-06 ENSE00001274300_018 ENSE00001274300 018 10 71706991 71707160 + 72 36 62 C G 71707126 1494 136 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTGTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 69947369 69947370 69947370 downstr_intron 28 1.45901639344262 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTGTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA mutant NA NA NA NA NA 969 388 0.995732155013921 0.991311625580009 0.993521890296965 NA NA 0.646452099809457 0.674058685399207 NA NA 0.349280055204464 0.317252940180802 NA 0.660255392604332 NA 0.333266497692633 NA FALSE NA 0.002 -0.094 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69947370 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003635242 intron_variant 0.175403 0.32235 0.07431 0.156188 0.399761899198659 0.159612 0.0039289675922385 FALSE 8.34495e-06 ENSE00001274300_019 ENSE00001274300 019 10 71706991 71707160 + 72 36 62 C T 71707126 1495 136 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTTTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 69947369 69947370 69947370 downstr_intron 28 1.45901639344262 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTTTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA mutant NA NA NA NA NA 181 27 1 1 1 NA NA 0.646452099809457 0.674058685399207 NA NA 0.353547900190543 0.325941314600793 NA 0.660255392604332 NA 0.339744607395668 NA FALSE NA 0.002 -0.094 NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00003635242 intron_variant 0.269437 0.27715 0.05015 0.156188 0.60880065846628 0.159612 0.0039289675922385 FALSE 4.17247e-06 ENSE00001274300_023 ENSE00001274300 023 10 71706991 71707160 + 72 36 62 G C 71707146 1499 156 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATCATGGGGTGGAATGA 69947234 69947404 69947389 69947390 69947390 downstr_intron 48 1.78688524590164 CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATCATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA mutant NA NA NA NA NA 1775 1149 0.999209031662685 0.999867403578769 0.999538217620727 NA NA 0.646452099809457 0.674058685399207 NA NA 0.352756931853228 0.325808718179562 NA 0.660255392604332 NA 0.339282825016395 NA FALSE NA 0 0.386 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 34/36 rs368537734 1 NA C:0 C:0.0002 TGA G,C 6.617e-05 10:69947390 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003635242 intron_variant -0.339942 0.29102 0.14559 0.162113 0.532053544985414 0.174301 0.0039289675922385 FALSE 8.24875e-05 ENSE00001274300_BRK ENSE00001274300 BRK 10 71706991 71707160 + 72 36 62 A,G; T,T NA NA NA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCTTGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGCCGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA 69947234 69947404 NA NA NA NA NA NA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCTTGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGCCGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA CTGGAAGAAAGCACTGTACAGCTGGCCTGTGTGTCCTCATTAACATGCCTTTCTTCCTCTGATCTCTTGCAGGGTTTACATGGACCACCCGGGGACAAGGGAAACCGGGTGAGTCTGAGCCCCTGCACTCGTGCTCTAGTTACTAATGTCTTCATGATGGGGTGGAATGA control NA NA NA NA NA 194 118 0 0.0361374543736748 0.0180687271868374 NA NA 0.646452099809457 0.674058685399207 NA NA -0.646452099809457 -0.637921231025532 NA 0.660255392604332 NA -0.642186665417494 NA TRUE NA NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00003635242 NA NA NA NA NA NA NA 0.0039289675922385 FALSE NA ENSE00001275715_000 ENSE00001275715 000 2 61233656 61233825 - 36 87 47 NA NA NA NA NA ATTTTCAGCAATTCCTGGGAATTTACATAATTGTAATGCTTTTTCAGGTGTGCCAAAAGGTTGAGGCCTCTGGGTTTGAATTCACCAGCTTGGTATTTTCAGTCTCCTTCCCACCACAACTATCTGTAAGAGAGGTAAGGTCATTTGCATGCATAAAACTGTATGTGAAG 61006520 61006690 NA NA NA NA NA NA ATTTTCAGCAATTCCTGGGAATTTACATAATTGTAATGCTTTTTCAGGTGTGCCAAAAGGTTGAGGCCTCTGGGTTTGAATTCACCAGCTTGGTATTTTCAGTCTCCTTCCCACCACAACTATCTGTAAGAGAGGTAAGGTCATTTGCATGCATAAAACTGTATGTGAAG ATTTTCAGCAATTCCTGGGAATTTACATAATTGTAATGCTTTTTCAGGTGTGCCAAAAGGTTGAGGCCTCTGGGTTTGAATTCACCAGCTTGGTATTTTCAGTCTCCTTCCCACCACAACTATCTGTAAGAGAGGTAAGGTCATTTGCATGCATAAAACTGTATGTGAAG natural NA NA NA NA NA 2773 3737 0.927819473443983 0.866742509169139 0.897280991306561 NA NA 0.927819473443983 0.866742509169139 NA NA 0 0 NA 0.897280991306561 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003674879 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00001276551_000 ENSE00001276551 000 9 123676466 123676635 - 47 66 57 NA NA NA NA NA CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 NA NA NA NA NA NA CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG natural 40 61 0.97261738673241 0.878890451605209 0.92575391916881 230 664 0.971511454831154 0.834980863839035 0.903246159335094 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 0 0 0 0 0.92575391916881 0.903246159335094 0 0 0 FALSE FALSE NA NA NA NA NA TRAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF1 NA NA NA ENSG00000056558 ENSE00003586866 NA NA NA NA NA NA NA 0.0567442890552586 FALSE NA ENSE00001276551_001 ENSE00001276551 001 9 123676466 123676635 - 47 66 57 G A 123676480 2180 156 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATTCACTATGGTTCCAG 120914187 120914357 120914201 120914202 120914202 downstr_intron 33 1.71739130434783 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATTCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 1765 164 0.869423232338731 1 0.934711616169366 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA -0.102088222492423 0.165019136160965 0.92575391916881 0.903246159335094 NA 0.0314654568342712 NA FALSE NA 0 0.451 . intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/5 rs376904002 1 NA A:0 A:0.0001 GGA G,A 8.243e-06 9:120914202 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant 0.498016 0.2745 0.01101 0.283894 0.697323658192869 0.112322 0.0567442890552586 FALSE 5.00475e-06 ENSE00001276551_002 ENSE00001276551 002 9 123676466 123676635 - 47 66 57 T C 123676482 2181 154 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTGTCCACTATGGTTCCAG 120914187 120914357 120914203 120914204 120914204 downstr_intron 31 1.67391304347826 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTGTCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 679 687 0.991844611069138 0.992396510500031 0.992120560784585 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.020333156237984 0.157415646660996 0.92575391916881 0.903246159335094 NA 0.0888744014494903 NA FALSE NA 0 0.068 rs2416805 intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/5 rs2416805 1 T:0.2684 C:0.7776 C:0.6888 NA C:0.7242 C:0.6402 C:0.8016 C:0.7544 C:0.6628 ATA C,C 0.685 9:120914204 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant 0.476591 0.15684 1e-04 0.283894 0.75686588212829 0.112322 0.0567442890552586 FALSE 0.681813 ENSE00001276551_003 ENSE00001276551 003 9 123676466 123676635 - 47 66 57 C A 123676487 2182 149 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGATATCTATCCACTATGGTTCCAG 120914187 120914357 120914208 120914209 120914209 downstr_intron 26 1.56521739130435 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGATATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 268 90 0.908812887687577 1 0.954406443843788 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA -0.0626985671435774 0.165019136160965 0.92575391916881 0.903246159335094 NA 0.0511602845086939 NA FALSE NA 0 0.014 . intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/5 1 NA TCT C,A 8.242e-06 9:120914209 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant 1.011553 0.23351 0.0064 0.283894 0.783552892170214 0.162295 0.0567442890552586 FALSE NA ENSE00001276551_004 ENSE00001276551 004 9 123676466 123676635 - 47 66 57 T C 123676491 2183 145 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAGGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914212 120914213 120914213 downstr_intron 22 1.47826086956522 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAGGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 73 431 1 0.974849645306509 0.987424822653255 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0284885451688458 0.139868781467475 0.92575391916881 0.903246159335094 NA 0.0841786633181602 NA FALSE NA 0 0.255 . intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/5 rs564520690 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTT T,C 3.296e-05 9:120914213 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant 0.519193 0.28007 0.01399 0.283894 0.768294890640576 0.162396 0.0567442890552586 FALSE 6.87292e-05 ENSE00001276551_010 ENSE00001276551 010 9 123676466 123676635 - 47 66 57 C T 123676527 2189 109 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCAGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914248 120914249 120914249 exon -15 0.787878787878788 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCAGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 833 194 0.94171148722015 0.954173836051121 0.947942661635635 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA -0.0297999676110042 0.119192972212086 0.92575391916881 0.903246159335094 NA 0.0446965023005408 NA FALSE NA 0.995 3.041 . 5_prime_UTR_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/6 rs532693743 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 CCG C,T 0.0001483 9:120914249 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 missense_variant 7.347762 0.96886 0.43806 0.631515 0.998866089675389 0 0.0567442890552586 FALSE 0.000139863 ENSE00001276551_011 ENSE00001276551 011 9 123676466 123676635 - 47 66 57 G A 123676528 2190 108 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTTGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914249 120914250 120914250 exon -16 0.772727272727273 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTTGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 335 58 0.979697583187416 0.95 0.964848791593708 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.00818612835626142 0.115019136160965 0.92575391916881 0.903246159335094 NA 0.0616026322586133 NA FALSE NA 0.006 -0.981 . 5_prime_UTR_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/6 rs375105487 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 CGA G,A 8.238e-05 9:120914250 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 synonymous_variant 1.011717 0.20422 0.00262 0.631515 0.762250518325296 0 0.0567442890552586 FALSE 6.54976e-05 ENSE00001276551_012 ENSE00001276551 012 9 123676466 123676635 - 47 66 57 G A 123676542 2191 94 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCTCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914263 120914264 120914264 exon -30 0.560606060606061 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCTCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 67 323 1 0.987688035879948 0.993844017939974 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0284885451688458 0.152707172040914 0.92575391916881 0.903246159335094 NA 0.0905978586048797 NA FALSE NA 1 4.018 . 5_prime_UTR_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/6 rs369468327 1 NA A:0.0002 A:0 GGG G,A 8.238e-06 9:120914264 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 missense_variant 1.034422 0.93917 0.37419 0.631515 0.943804001571472 0 0.0567442890552586 FALSE 4.39955e-06 ENSE00001276551_015 ENSE00001276551 015 9 123676466 123676635 - 47 66 57 C A 123676563 2194 73 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGTCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914284 120914285 120914285 exon 16 0.242424242424242 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGTCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 235 18 1 0.95 0.975 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0284885451688458 0.115019136160965 0.92575391916881 0.903246159335094 NA 0.0717538406649055 NA FALSE NA 0 -0.585 . 5_prime_UTR_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/6 1 NA GCC C,A 8.239e-06 9:120914285 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 missense_variant -1.086452 0.30407 0.00588 0.67177 0.643178352939067 0 0.0567442890552586 FALSE 8.83486e-06 ENSE00001276551_016 ENSE00001276551 016 9 123676466 123676635 - 47 66 57 C T 123676564 2195 72 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTAGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914285 120914286 120914286 exon 15 0.227272727272727 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTAGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 29 486 1 0.869169442597844 0.934584721298922 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0284885451688458 0.0341885787588089 0.92575391916881 0.903246159335094 NA 0.0313385619638273 NA FALSE NA 0 -0.105 . 5_prime_UTR_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/6 1 NA CCA C,T 8.239e-06 9:120914286 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 synonymous_variant 0.627135 0.3263 0.00502 0.67177 0.522917335273792 0 0.0567442890552586 FALSE NA ENSE00001276551_018 ENSE00001276551 018 9 123676466 123676635 - 47 66 57 C T 123676566 2197 70 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGATGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914287 120914288 120914288 exon 13 0.196969696969697 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGATGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 556 252 0.999033786527895 1 0.999516893263948 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0275223316967411 0.165019136160965 0.92575391916881 0.903246159335094 NA 0.0962707339288532 NA FALSE NA 0 -0.139 . 5_prime_UTR_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/6 1 NA ACC C,T 8.24e-06 9:120914288 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 missense_variant 0.317848 0.30103 0.00871 0.67177 0.979039934131502 0 0.0567442890552586 FALSE NA ENSE00001276551_020 ENSE00001276551 020 9 123676466 123676635 - 47 66 57 G A 123676570 2199 66 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCTGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914291 120914292 120914292 exon 9 0.136363636363636 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCTGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 1024 21 0.959843539920506 0.95 0.954921769960253 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA -0.0116679149106483 0.115019136160965 0.92575391916881 0.903246159335094 NA 0.0516756106251584 NA FALSE NA 0 -3.641 . 5_prime_UTR_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/6 rs377485857 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGG G,A 4.12e-05 9:120914292 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 synonymous_variant 0.36457 0.17134 0.00218 0.67177 0.615853886885869 0 0.0567442890552586 FALSE 5.07235e-05 ENSE00001276551_021 ENSE00001276551 021 9 123676466 123676635 - 47 66 57 G A 123676575 2200 61 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTTACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914296 120914297 120914297 exon 4 0.0606060606060606 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTTACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 1804 138 0.997044103552436 1 0.998522051776218 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0255326487212821 0.165019136160965 0.92575391916881 0.903246159335094 NA 0.0952758924411237 NA FALSE NA 0.011 1.256 . 5_prime_UTR_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 2/6 1 NA TGA G,A 8.241e-06 9:120914297 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 missense_variant -0.621303 0.33437 0.04516 0.67177 0.98039828739262 0 0.0567442890552586 FALSE 4.71818e-06 ENSE00001276551_024 ENSE00001276551 024 9 123676466 123676635 - 47 66 57 C T 123676600 2203 36 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAATGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914321 120914322 120914322 upstr_intron -22 -0.368421052631579 CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAATGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 1357 404 0.996146362066223 0.999608332842429 0.997877347454326 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0246349072350686 0.164627469003394 0.92575391916881 0.903246159335094 NA 0.0946311881192312 NA FALSE NA 0.005 -0.143 . intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 1/5 1 NA ACT C,T 8.251e-06 9:120914322 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant 0.462437 0.50863 0.01249 0.115753 0.59567736499137 0.188537 0.0567442890552586 FALSE 5.33886e-06 ENSE00001276551_025 ENSE00001276551 025 9 123676466 123676635 - 47 66 57 G C 123676602 2204 34 CCCCAGGGTAGCCACAGGGATCGCTATAACATTGAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914323 120914324 120914324 upstr_intron -24 -0.403508771929825 CCCCAGGGTAGCCACAGGGATCGCTATAACATTGAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 77 159 1 1 1 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0284885451688458 0.165019136160965 0.92575391916881 0.903246159335094 NA 0.0967538406649055 NA FALSE NA 0 0.322 . intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 1/5 1 NA TGA G,C 8.254e-06 9:120914324 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant -0.232482 0.28467 0.01211 0.069865 0.60776119697988 0.208355 0.0567442890552586 FALSE 5.5798e-06 ENSE00001276551_027 ENSE00001276551 027 9 123676466 123676635 - 47 66 57 C T 123676613 2206 23 CCCCAGGGTAGCCACAGGGATCACTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914334 120914335 120914335 upstr_intron -35 -0.596491228070175 CCCCAGGGTAGCCACAGGGATCACTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 39 83 0.974211399131641 1 0.987105699565821 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.00269994430048714 0.165019136160965 0.92575391916881 0.903246159335094 NA 0.0838595402307262 NA FALSE NA 0 0.034 . intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 1/5 rs372950198 1 NA T:0.0005 T:0.0008 GCG C,T 0.0003967 9:120914335 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant 0.323461 0.29473 0.00386 0.069865 0.442530442772333 0.213205 0.0567442890552586 FALSE 0.000412088 ENSE00001276551_031 ENSE00001276551 031 9 123676466 123676635 - 47 66 57 C T 123676618 2210 18 CCCCAGGGTAGCCACAGAGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914339 120914340 120914340 upstr_intron -40 -0.684210526315789 CCCCAGGGTAGCCACAGAGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 716 46 1 1 1 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0284885451688458 0.165019136160965 0.92575391916881 0.903246159335094 NA 0.0967538406649055 NA FALSE NA 0.001 0.478 rs2239656 intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 1/5 rs2239656 1 T:0.1184 T:0.2337 T:0.0403 NA T:0.2034 T:0.0109 T:0.0409 T:0.2251 T:0.0128 CCC C,T 0.05 9:120914340 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant 0.454002 0.29227 0.01336 0.069865 0.660387136888354 0.153255 0.0567442890552586 FALSE 0.0508913 ENSE00001276551_032 ENSE00001276551 032 9 123676466 123676635 - 47 66 57 T C 123676622 2211 14 CCCCAGGGTAGCCGCAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 120914343 120914344 120914344 upstr_intron -44 -0.754385964912281 CCCCAGGGTAGCCGCAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG mutant NA NA NA NA NA 45 45 1 0.922503507633992 0.961251753816996 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 NA NA 0.0284885451688458 0.0875226437949577 0.92575391916881 0.903246159335094 NA 0.0580055944819017 NA FALSE NA 0 -0.51 . intron_variant MODIFIER TRAF1 HGNC 12031 ENST00000546084 1/5 rs570184706 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTG T,C 8.278e-06 9:120914344 TRAF1 HGNC Symbol protein_coding 26780 ENSG00000056558 ENSE00003586866 intron_variant 0.06789 0.26949 0.00727 0.069865 0.676708460734836 0.214786 0.0567442890552586 FALSE NA ENSE00001276551_BRK ENSE00001276551 BRK 9 123676466 123676635 - 47 66 57 A,G; T,T NA NA NA CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCTTGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGCCAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG 120914187 120914357 NA NA NA NA NA NA CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCTTGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGCCAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG CCCCAGGGTAGCCACAGGGATCGCTATAACATTCAGTGATGTGATTATTATTTCCAGGCTCACCCCGAGGTGGCTGAGGCTGGAATTGGGTGCCCCTTTGCAGGTGTCGGCTGCTCCTTCAAGGTAAGCATCTGAGTGTGAGAAAGGAGATCTATCCACTATGGTTCCAG control 54 63 0 0 0 NA NA NA NA NA 0.97261738673241 0.878890451605209 0.971511454831154 0.834980863839035 -0.97261738673241 -0.878890451605209 NA NA 0.92575391916881 0.903246159335094 -0.92575391916881 NA NA NA TRUE NA NA NA NA NA TRAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF1 NA NA NA ENSG00000056558 ENSE00003586866 NA NA NA NA NA NA NA 0.0567442890552586 FALSE NA ENSE00001278425_000 ENSE00001278425 000 1 248023877 248024046 + 42 96 32 NA NA NA NA NA GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 NA NA NA NA NA NA CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC natural 73 54 0.992593375044373 0.994837251828359 0.993715313436366 1662 2151 0.836715654042416 0.957704469125666 0.897210061584041 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 0 0 0 0 0.993715313436366 0.897210061584041 0 0 0 FALSE FALSE NA NA NA NA NA TRIM58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM58 NA NA NA ENSG00000162722 ENSE00001278425 NA NA NA NA NA NA NA 2.07666883202414e-07 FALSE NA ENSE00001278425_001 ENSE00001278425 001 1 248023877 248024046 + 42 96 32 T C 248023892 5394 16 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACGGATGCCCTCAATCTG 247860574 247860744 247860589 247860590 247860590 upstr_intron -27 -0.619047619047619 CAGATTGAGGGCATCCGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 62 1068 0.982229893417063 0.996649564702962 0.989439729060013 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.145514239374647 0.0389450955772958 0.993715313436366 0.897210061584041 NA 0.0922296674759714 NA FALSE NA 0 0.318 . intron_variant MODIFIER TRIM58 HGNC 24150 ENST00000366481 1/5 1 NA CTG T 8.236e-06 1:247860590 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 intron_variant 0.226474 0.1273 0.03164 0.053691 0.726490455582673 0.0728973 2.07666883202414e-07 FALSE 4.12879e-06 ENSE00001278425_003 ENSE00001278425 003 1 248023877 248024046 + 42 96 32 G A 248023902 5396 26 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTTAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860599 247860600 247860600 upstr_intron -17 -0.380952380952381 CAGATTGAGGGCATCTGTAACAGCTAAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 1436 274 0.99415419444502 0.991494946651326 0.992824570548173 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.157438540402604 0.0337904775256591 0.993715313436366 0.897210061584041 NA 0.0956145089641315 NA FALSE NA 0 -3.108 . intron_variant MODIFIER TRIM58 HGNC 24150 ENST00000366481 1/5 rs575288676 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TGA G 8.236e-06 1:247860600 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 intron_variant -0.190327 0.08592 0.0025 0.053691 0.508521264143813 0.0728007 2.07666883202414e-07 FALSE NA ENSE00001278425_004 ENSE00001278425 004 1 248023877 248024046 + 42 96 32 T A 248023909 5397 33 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGTACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860606 247860607 247860607 upstr_intron -10 -0.214285714285714 CAGATTGAGGGCATCTGTAACAGCTGAAATGTACCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 536 173 1 0.998167224599011 0.999083612299505 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.163284345957584 0.0404627554733445 0.993715313436366 0.897210061584041 NA 0.101873550715464 NA FALSE NA 0.011 1.133 . intron_variant MODIFIER TRIM58 HGNC 24150 ENST00000366481 1/5 1 NA TTC T 8.236e-06 1:247860607 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 intron_variant 0.596613 0.42761 0.64444 0.053691 0.750350817647296 0.652492 2.07666883202414e-07 FALSE 8.17274e-06 ENSE00001278425_005 ENSE00001278425 005 1 248023877 248024046 + 42 96 32 A G 248023915 5398 39 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGCTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860612 247860613 247860613 upstr_intron -4 -0.0714285714285714 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAGCAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 107 1593 0.945724559207352 0.919936102136958 0.932830330672155 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.109008905164937 -0.037768366988708 0.993715313436366 0.897210061584041 NA 0.0356202690881143 NA FALSE NA 0.964 1.405 . splice_region_variant&intron_variant LOW TRIM58 HGNC 24150 ENST00000366481 1/5 1 NA AAC A 1.647e-05 1:247860613 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 splice_region_variant 0.354552 0.85562 0.64936 0.053691 0.67966406228362 0.681456 2.07666883202414e-07 FALSE 8.16493e-06 ENSE00001278425_007 ENSE00001278425 007 1 248023877 248024046 + 42 96 32 A G 248023923 5400 47 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCCTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860620 247860621 247860621 exon 5 0.0520833333333333 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAGGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 76 1143 0.995585866881599 1 0.9977929334408 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.158870212839184 0.0422955308743336 0.993715313436366 0.897210061584041 NA 0.100582871856759 NA FALSE NA 0.997 2.836 rs139660935 missense_variant MODERATE TRIM58 HGNC 24150 ENST00000366481 2/6 rs139660935&COSM3977433 1 deleterious(0.03) benign(0.076) NA G:0 G:0.0001 AAG A 8.236e-06 1:247860621 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 missense_variant 0.346351 0.71841 0.67953 0.487112 0.986406556335909 0 2.07666883202414e-07 FALSE 1.22272e-05 ENSE00001278425_008 ENSE00001278425 008 1 248023877 248024046 + 42 96 32 T C 248023936 5401 60 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGGGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860633 247860634 247860634 exon 18 0.1875 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCCCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 353 2644 1 0.99426682407501 0.997133412037505 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.163284345957584 0.0365623549493437 0.993715313436366 0.897210061584041 NA 0.0999233504534639 NA FALSE NA 0.021 -0.714 . synonymous_variant LOW TRIM58 HGNC 24150 ENST00000366481 2/6 1 NA CTC T 2.471e-05 1:247860634 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 synonymous_variant -0.29472 0.1221 0.0162 0.487112 0.565091430948444 0 2.07666883202414e-07 FALSE 1.62656e-05 ENSE00001278425_009 ENSE00001278425 009 1 248023877 248024046 + 42 96 32 C T 248023937 5402 61 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAAAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860634 247860635 247860635 exon 19 0.197916666666667 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTTTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 199 579 1 0.997122642380591 0.998561321190295 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.163284345957584 0.0394181732549241 0.993715313436366 0.897210061584041 NA 0.101351259606254 NA FALSE NA 0.08 0.203 . synonymous_variant LOW TRIM58 HGNC 24150 ENST00000366481 2/6 rs539654994 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C 0.0001153 1:247860635 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 synonymous_variant 1.124389 0.19711 0.07207 0.487112 0.674781840177346 0 2.07666883202414e-07 FALSE 8.13392e-05 ENSE00001278425_010 ENSE00001278425 010 1 248023877 248024046 + 42 96 32 T C 248023947 5403 71 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCGTAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860644 247860645 247860645 exon 29 0.302083333333333 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTACGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 1233 477 0.999598790871854 1 0.999799395435927 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.162883136829439 0.0422955308743336 0.993715313436366 0.897210061584041 NA 0.102589333851886 NA FALSE NA 0.091 3.763 . missense_variant MODERATE TRIM58 HGNC 24150 ENST00000366481 2/6 1 deleterious(0) benign(0.001) NA ATG T 1.647e-05 1:247860645 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 missense_variant 1.846145 0.83368 0.39252 0.487112 0.940960386419277 0 2.07666883202414e-07 FALSE 8.13028e-06 ENSE00001278425_011 ENSE00001278425 011 1 248023877 248024046 + 42 96 32 G A 248023957 5404 81 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAATTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860654 247860655 247860655 exon 39 0.40625 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAATTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 725 435 0.998859169577629 0.99704225319933 0.99795071138848 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.162143515535213 0.0393377840736637 0.993715313436366 0.897210061584041 NA 0.100740649804438 NA FALSE NA 0.009 0.012 . synonymous_variant LOW TRIM58 HGNC 24150 ENST00000366481 2/6 COSM323995 1 NA AGT G 8.236e-06 1:247860655 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 synonymous_variant -0.303551 0.77458 0.07123 0.487112 0.328895291292431 0 2.07666883202414e-07 FALSE 4.06372e-06 ENSE00001278425_013 ENSE00001278425 013 1 248023877 248024046 + 42 96 32 C T 248023966 5406 90 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCATCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860663 247860664 247860664 exon 48 0.5 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGATGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant 31 20 0.972433958234098 0.995109300986468 0.983771629610283 387 49 1 1 1 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 -0.0201594168102744 0.000272049158109411 0.163284345957584 0.0422955308743336 0.993715313436366 0.897210061584041 -0.00994368382608252 0.102789938415959 0.112733622242041 FALSE FALSE 0 -1.873 rs3737277 synonymous_variant LOW TRIM58 HGNC 24150 ENST00000366481 2/6 rs3737277&COSM3751093 1 T:0.2572 T:0.3298 T:0.268 NA T:0.1885 T:0.2744 T:0.2045 T:0.332 T:0.2824 ACG C 0.275 1:247860664 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 synonymous_variant 0.384436 0.07485 0.00648 0.487112 0.171561435961121 0 2.07666883202414e-07 FALSE 0.270628 ENSE00001278425_014 ENSE00001278425 014 1 248023877 248024046 + 42 96 32 G A 248023967 5407 91 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGTGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860664 247860665 247860665 exon -48 0.510416666666667 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACACCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 920 331 0.99978861132951 0.996344341818909 0.99806647657421 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.163072957287095 0.0386398726932425 0.993715313436366 0.897210061584041 NA 0.100856414990169 NA FALSE NA 0 0.699 . missense_variant MODERATE TRIM58 HGNC 24150 ENST00000366481 2/6 1 tolerated(0.2) benign(0.028) NA CGC G 8.236e-06 1:247860665 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 missense_variant 0.917214 0.15449 0.03935 0.487112 0.936005547699206 0 2.07666883202414e-07 FALSE NA ENSE00001278425_016 ENSE00001278425 016 1 248023877 248024046 + 42 96 32 A G 248023977 5409 101 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCCGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860674 247860675 247860675 exon -38 0.614583333333333 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCGGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 409 537 0.99888789677357 0.991784200744458 0.995336048759014 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.162172242731154 0.0340797316187912 0.993715313436366 0.897210061584041 NA 0.0981259871749727 NA FALSE NA 0.526 0.733 . missense_variant MODERATE TRIM58 HGNC 24150 ENST00000366481 2/6 1 tolerated(0.87) benign(0.005) NA CAG A 1.647e-05 1:247860675 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 missense_variant 0.428834 0.95793 0.54746 0.487112 0.954292976200543 0 2.07666883202414e-07 FALSE 2.8456e-05 ENSE00001278425_017 ENSE00001278425 017 1 248023877 248024046 + 42 96 32 A G 248023986 5410 110 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGCTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860683 247860684 247860684 exon -29 0.708333333333333 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAGCGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 922 648 0.99749746273314 0.999334523956621 0.99841599334488 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.160781808690724 0.0416300548309546 0.993715313436366 0.897210061584041 NA 0.101205931760839 NA FALSE NA 0 -1.129 . missense_variant MODERATE TRIM58 HGNC 24150 ENST00000366481 2/6 1 tolerated(0.73) benign(0.002) NA AAC A 8.236e-06 1:247860684 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 missense_variant -3.496518 0.09763 0.01282 0.553676 0.164043487038363 0 2.07666883202414e-07 FALSE 4.06425e-06 ENSE00001278425_018 ENSE00001278425 018 1 248023877 248024046 + 42 96 32 C T 248023987 5411 111 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACATTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860684 247860685 247860685 exon -28 0.71875 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAATGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 332 870 0.999875978332068 0.999818172845639 0.999847075588853 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.163160324289652 0.0421137037199725 0.993715313436366 0.897210061584041 NA 0.102637014004812 NA FALSE NA 0 -2.101 . synonymous_variant LOW TRIM58 HGNC 24150 ENST00000366481 2/6 COSM907104 1 NA ACG C 1.647e-05 1:247860685 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 synonymous_variant 0.200833 0.06474 0.0026 0.553676 0.533888808027975 0 2.07666883202414e-07 FALSE 1.21945e-05 ENSE00001278425_019 ENSE00001278425 019 1 248023877 248024046 + 42 96 32 G A 248023988 5412 112 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCATGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860685 247860686 247860686 exon -27 0.729166666666667 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACATGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 393 1469 0.999790379953676 0.999005881983037 0.999398130968356 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.16307472591126 0.0413014128573704 0.993715313436366 0.897210061584041 NA 0.102188069384315 NA FALSE NA 0.069 0.046 . missense_variant MODERATE TRIM58 HGNC 24150 ENST00000366481 2/6 rs201462673&COSM680587 1 tolerated(0.1) benign(0.028) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0003 CGT G 6.589e-05 1:247860686 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 missense_variant 0.641033 0.7 0.08944 0.553676 0.911689365891536 0 2.07666883202414e-07 FALSE 4.06415e-05 ENSE00001278425_020 ENSE00001278425 020 1 248023877 248024046 + 42 96 32 A G 248023994 5413 118 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTCCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860691 247860692 247860692 exon -21 0.791666666666667 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGGAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 137 1360 0.98278137638928 0.906985948854817 0.944883662622048 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.146065722346864 -0.050718520270849 0.993715313436366 0.897210061584041 NA 0.0476736010380073 NA FALSE NA 0.982 2.069 . missense_variant MODERATE TRIM58 HGNC 24150 ENST00000366481 2/6 1 tolerated(0.28) benign(0.025) NA GAA A 8.237e-06 1:247860692 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 missense_variant 0.401602 0.59929 0.62648 0.553676 0.969573123710884 0 2.07666883202414e-07 FALSE NA ENSE00001278425_021 ENSE00001278425 021 1 248023877 248024046 + 42 96 32 G C 248023999 5414 123 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTGTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860696 247860697 247860697 exon -16 0.84375 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAACACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 1056 145 0.999413963916557 0.968812281813985 0.984113122865271 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.162698309874141 0.0111078126883191 0.993715313436366 0.897210061584041 NA 0.0869030612812302 NA FALSE NA 0.963 0.604 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:247860697 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 missense_variant 3.504046 0.29995 0.40875 0.553676 0.996098935960816 0 2.07666883202414e-07 FALSE 4.06332e-06 ENSE00001278425_022 ENSE00001278425 022 1 248023877 248024046 + 42 96 32 G A 248023999 5415 123 GCAAGCCTCCTAAAGCCCCAACATGGTCTTACCTTCCAAATGACAGTTTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860696 247860697 247860697 exon -16 0.84375 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAAACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 279 1704 0.988221657009287 0.999731543842192 0.99397660042574 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.151506002966872 0.0420270747165256 0.993715313436366 0.897210061584041 NA 0.0967665388416986 NA FALSE NA 0.963 0.604 NA NA NA TRIM58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM58 NA NA NA ENSG00000162722 ENSE00001278425 synonymous_variant 0.196869 0.26134 0.12759 0.553676 0.374801685778089 0 2.07666883202414e-07 FALSE 8.12665e-06 ENSE00001278425_024 ENSE00001278425 024 1 248023877 248024046 + 42 96 32 A G 248024017 5417 141 GCAAGCCTCCTAAAGCCCCAACATGGTCTCACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860714 247860715 247860715 downstr_intron 3 1.09677419354839 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTGAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 248 68 0.99876187913193 1 0.999380939565965 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.162046225089515 0.0422955308743336 0.993715313436366 0.897210061584041 NA 0.102170877981924 NA FALSE NA 0.409 0.699 . splice_region_variant&intron_variant LOW TRIM58 HGNC 24150 ENST00000366481 2/5 1 NA TAA A 8.236e-06 1:247860715 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 splice_region_variant -0.233038 0.18565 0.20141 0.074636 0.416749067088758 0.194173 2.07666883202414e-07 FALSE 8.13134e-06 ENSE00001278425_025 ENSE00001278425 025 1 248023877 248024046 + 42 96 32 G T 248024025 5418 149 GCAAGCCTCCTAAAGCCCCAAAATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860722 247860723 247860723 downstr_intron 11 1.35483870967742 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATTTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 1031 438 1 0.998862399552333 0.999431199776167 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.163284345957584 0.0411579304266668 0.993715313436366 0.897210061584041 NA 0.102221138192125 NA FALSE NA 0 -3.715 . intron_variant MODIFIER TRIM58 HGNC 24150 ENST00000366481 2/5 1 NA TGT G 8.236e-06 1:247860723 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 intron_variant -0.342481 0.11854 0.00626 0.074636 0.555927479744413 0.103276 2.07666883202414e-07 FALSE 8.14405e-06 ENSE00001278425_026 ENSE00001278425 026 1 248023877 248024046 + 42 96 32 G T 248024031 5419 155 GCAAGCCTCCTAAAGACCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860728 247860729 247860729 downstr_intron 17 1.54838709677419 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGTCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 1131 763 0.938664980911641 0.998540295668503 0.968602638290072 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.101949326869226 0.0408358265428369 0.993715313436366 0.897210061584041 NA 0.0713925767060312 NA FALSE NA 0.001 -0.126 . intron_variant MODIFIER TRIM58 HGNC 24150 ENST00000366481 2/5 1 NA GGC G 1.647e-05 1:247860729 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 intron_variant -0.064641 0.14935 0.02437 0.074636 0.56706028534522 0.103276 2.07666883202414e-07 FALSE 1.22532e-05 ENSE00001278425_027 ENSE00001278425 027 1 248023877 248024046 + 42 96 32 C A 248024032 5420 156 GCAAGCCTCCTAAATCCCCAACATGGTCTTACCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACCTGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 247860729 247860730 247860730 downstr_intron 18 1.58064516129032 CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGATTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC mutant NA NA NA NA NA 226 367 0.998534066373575 0.999896235872167 0.999215151122871 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 NA NA 0.161818412331159 0.0421917667465009 0.993715313436366 0.897210061584041 NA 0.10200508953883 NA FALSE NA 0 -0.019 . intron_variant MODIFIER TRIM58 HGNC 24150 ENST00000366481 2/5 1 NA GCT C 8.236e-06 1:247860730 TRIM58 HGNC Symbol protein_coding 21006 ENSG00000162722 ENSE00001278425 intron_variant 0.278446 0.16886 0.03881 0.074636 0.561677690603604 0.103276 2.07666883202414e-07 FALSE 4.0856e-06 ENSE00001278425_BRK ENSE00001278425 BRK 1 248023877 248024046 + 42 96 32 A,G; T,T NA NA NA GCAAGCCTCCTAAAGCCCCAACATGGTCTTGGCTTCCAAATGACAGTCTTTTTCCCCACGTTGGCCTCCTGAGTCAAGGCGTCCTCCAACTCTTTCCTCATAAGTTCCAGAGCCATCTGGAGCTTTACAAGTTTGGGAACATTTCAGCTGTTACAGATGCCCTCAATCTG 247860574 247860744 NA NA NA NA NA NA CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACTTGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGCCAAGACCATGTTGGGGCTTTAGGAGGCTTGC CAGATTGAGGGCATCTGTAACAGCTGAAATGTTCCCAAACAGGTAAAGCTCCAGATGGCTCTGGAACTTATGAGGAAAGAGTTGGAGGACGCCTTGACTCAGGAGGCCAACGTGGGGAAAAAGACTGTCATTTGGAAGGTAAGACCATGTTGGGGCTTTAGGAGGCTTGC control 17 16 0 0 0 276 91 0 0 0 0.992593375044373 0.994837251828359 0.836715654042416 0.957704469125666 -0.992593375044373 -0.994837251828359 -0.836715654042416 -0.957704469125666 0.993715313436366 0.897210061584041 -0.993715313436366 -0.897210061584041 0.0965052518523247 TRUE TRUE NA NA NA NA NA TRIM58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM58 NA NA NA ENSG00000162722 ENSE00001278425 NA NA NA NA NA NA NA 2.07666883202414e-07 FALSE NA ENSE00001279085_000 ENSE00001279085 000 8 141716182 141716351 - 36 87 47 NA NA NA NA NA AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 NA NA NA NA NA NA GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT natural 325 218 0.943149778832754 0.968827630091139 0.955988704461947 12441 12445 0.978966255748246 0.990182031338321 0.984574143543284 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 0 0 0 0 0.955988704461947 0.984574143543284 0 0 0 FALSE FALSE NA NA NA NA NA PTK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTK2 NA NA NA ENSG00000169398 ENSE00003592207 NA NA NA NA NA NA NA 0.999992957786805 TRUE NA ENSE00001279085_001 ENSE00001279085 001 8 141716182 141716351 - 36 87 47 G C 141716192 3002 160 AAATAACACACTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706092 140706093 140706093 downstr_intron 26 1.74285714285714 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAAGTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 519 3273 1 0.976470681042592 0.988235340521296 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0210337442517539 -0.0137113502957286 0.955988704461947 0.984574143543284 NA 0.00366119697801265 NA FALSE NA 0 -0.359 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 14/21 1 NA AGT G,C 8.236e-06 8:140706093 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant -0.254344 0.13273 0.015 0.164513 0.526452554745224 0.0455939 0.999992957786805 TRUE 4.07043e-06 ENSE00001279085_002 ENSE00001279085 002 8 141716182 141716351 - 36 87 47 T C 141716193 3003 159 AAATAACACAGCTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706093 140706094 140706094 downstr_intron 25 1.71428571428571 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAGCTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 2189 550 0.996306659442715 0.999642966877665 0.99797481316019 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0173404036944693 0.00946093553934368 0.955988704461947 0.984574143543284 NA 0.0134006696169065 NA FALSE NA 0 0.129 rs10090128 intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 14/21 rs10090128 1 C:0.0250 C:0.0915 C:0.0058 NA C:0 C:0 C:0 C:0.0865 C:0.0001 GTT T,C 0.007553 8:140706094 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.150914 0.13502 0.01186 0.164513 0.470131679709014 0.0455939 0.999992957786805 TRUE 0.00573173 ENSE00001279085_003 ENSE00001279085 003 8 141716182 141716351 - 36 87 47 C G 141716200 3004 152 AAATAACACAGTTTATATGTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706100 140706101 140706101 downstr_intron 18 1.51428571428571 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACACATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 886 1638 0.917135489216178 0.989765531659255 0.953450510437716 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.0618307665320685 -0.000416499679066096 0.955988704461947 0.984574143543284 NA -0.0311236331055673 NA FALSE NA 0 -0.152 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 14/21 rs558783378 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCT C,G 3.295e-05 8:140706101 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.015657 0.18893 0.14568 0.164513 0.444643989639174 0.113898 0.999992957786805 TRUE 1.22025e-05 ENSE00001279085_004 ENSE00001279085 004 8 141716182 141716351 - 36 87 47 A G 141716204 3005 148 AAATAACACAGTTTATATCTGTGATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706104 140706105 140706105 downstr_intron 14 1.4 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATCACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1641 1686 0.997335294206877 0.961146089767925 0.979240691987401 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0183690384586305 -0.0290359415703964 0.955988704461947 0.984574143543284 NA -0.00533345155588294 NA FALSE NA 0 -0.234 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 14/21 1 NA TAA A,G 8.236e-06 8:140706105 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant -0.13663 0.10467 0.06487 0.164513 0.45747174608771 0.113898 0.999992957786805 TRUE 4.06531e-06 ENSE00001279085_005 ENSE00001279085 005 8 141716182 141716351 - 36 87 47 A G 141716205 3006 147 AAATAACACAGTTTATATCTGTAGTGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706105 140706106 140706106 downstr_intron 13 1.37142857142857 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCACTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 3733 1711 0.954466024065956 0.991634357897744 0.97305019098185 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.0245002316822897 0.00145232655942273 0.955988704461947 0.984574143543284 NA -0.0115239525614335 NA FALSE NA 0 -1.205 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 14/21 1 NA AAT A,G 8.236e-06 8:140706106 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.144685 0.162 0.08166 0.164513 0.412833605997253 0.113898 0.999992957786805 TRUE NA ENSE00001279085_006 ENSE00001279085 006 8 141716182 141716351 - 36 87 47 T A 141716206 3007 146 AAATAACACAGTTTATATCTGTAAAGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706106 140706107 140706107 downstr_intron 12 1.34285714285714 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCTTTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 2062 5444 0.998263726768327 0.987662469038002 0.992963097903165 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0192974710200812 -0.00251956230031913 0.955988704461947 0.984574143543284 NA 0.00838895435988102 NA FALSE NA 0 -3.11 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 14/21 1 NA ATG T,A 8.236e-06 8:140706107 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.215577 0.12557 0.05352 0.164513 0.589253096801827 0.113898 0.999992957786805 TRUE 1.21942e-05 ENSE00001279085_007 ENSE00001279085 007 8 141716182 141716351 - 36 87 47 G A 141716207 3008 145 AAATAACACAGTTTATATCTGTAATAACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706107 140706108 140706108 downstr_intron 11 1.31428571428571 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTTATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 3101 2825 0.997810606452266 0.998360437498078 0.998085521975172 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0188443507040199 0.00817840615975707 0.955988704461947 0.984574143543284 NA 0.0135113784318885 NA FALSE NA 0 -0.193 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 14/21 1 NA TGA G,A 8.236e-06 8:140706108 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.508727 0.15354 0.05937 0.164513 0.761606010313196 0.113898 0.999992957786805 TRUE 4.06445e-06 ENSE00001279085_008 ENSE00001279085 008 8 141716182 141716351 - 36 87 47 A C 141716208 3009 144 AAATAACACAGTTTATATCTGTAATGCCTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706108 140706109 140706109 downstr_intron 10 1.28571428571429 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGGCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1965 1411 0.998347241193249 0.996443010447774 0.997395125820512 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.019380985445003 0.00626097910945289 0.955988704461947 0.984574143543284 NA 0.0128209822772279 NA FALSE NA 0 -0.397 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 14/21 1 NA GAC A,C 8.236e-06 8:140706109 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.543038 0.14978 0.05708 0.164513 0.600034621451392 0.113898 0.999992957786805 TRUE 4.06435e-06 ENSE00001279085_009 ENSE00001279085 009 8 141716182 141716351 - 36 87 47 T C 141716215 3010 137 AAATAACACAGTTTATATCTGTAATGACTGGCACACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706115 140706116 140706116 downstr_intron 3 1.08571428571429 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTGTGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1401 1509 0.00027308670409985 0.0120767950023371 0.0061749408532185 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.978693169044146 -0.978105236335984 0.955988704461947 0.984574143543284 NA -0.978399202690065 NA TRUE NA 1 4.631 . splice_region_variant&intron_variant LOW PTK2 HGNC 9611 ENST00000538769 14/21 1 NA ATA T,C 1.647e-05 8:140706116 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 splice_region_variant 1.432557 0.96265 0.66461 0.164513 0.925354792208132 0.424143 0.999992957786805 TRUE 8.12605e-06 ENSE00001279085_010 ENSE00001279085 010 8 141716182 141716351 - 36 87 47 T C 141716228 3011 124 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGACTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706128 140706129 140706129 exon -11 0.885057471264368 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAGTCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 3506 1343 0.978569265664701 0.997945777264382 0.988257521464542 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.000396990083544657 0.00776374592606111 0.955988704461947 0.984574143543284 NA 0.00368337792125822 NA FALSE NA 1 5.993 rs143253214 missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 14/22 rs143253214 1 benign(0.016) NA C:0 C:0.0001 ATT T,C 2.471e-05 8:140706129 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 missense_variant 0.945286 0.9788 0.94723 0.722319 0.934792250129585 0 0.999992957786805 TRUE 2.03098e-05 ENSE00001279085_011 ENSE00001279085 011 8 141716182 141716351 - 36 87 47 C T 141716238 3012 114 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTATCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706138 140706139 140706139 exon -21 0.770114942528736 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGATACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1003 648 0.967182293955549 0.99204566127212 0.979613977613835 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.0117839617926968 0.00186362993379885 0.955988704461947 0.984574143543284 NA -0.00496016592944898 NA FALSE NA 0.998 3.515 . missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 14/22 1 benign(0.025) NA ACC C,T 8.236e-06 8:140706139 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 missense_variant 2.995157 0.98932 0.93731 0.722319 0.982586545983568 0 0.999992957786805 TRUE 8.12348e-06 ENSE00001279085_013 ENSE00001279085 013 8 141716182 141716351 - 36 87 47 G A 141716242 3014 110 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATATGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706142 140706143 140706143 exon -25 0.724137931034483 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCATATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1151 1972 0.992263908292649 0.99743243210375 0.994848170198199 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.013297652544403 0.0072504007654286 0.955988704461947 0.984574143543284 NA 0.0102740266549158 NA FALSE NA 0.986 0.136 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 14/22 rs567646904 1 NA TGT G,A 8.236e-06 8:140706143 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 synonymous_variant 0.985884 0.97699 0.78266 0.722319 0.711659552210061 0 0.999992957786805 TRUE 4.06154e-06 ENSE00001279085_014 ENSE00001279085 014 8 141716182 141716351 - 36 87 47 T G 141716248 3015 104 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGGGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706148 140706149 140706149 exon -31 0.655172413793103 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCCCAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 3754 2602 0.998960130424949 0.996075473362621 0.997517801893785 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0199938746767033 0.00589344202429964 0.955988704461947 0.984574143543284 NA 0.0129436583505015 NA FALSE NA 0.008 -2.499 rs147531538 synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 14/22 rs147531538 1 G:0.0010 G:0 G:0.0058 NA G:0 G:0.001 G:0 G:0.0011 G:0.0024 GTG T,G 0.001087 8:140706149 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 synonymous_variant 0.878259 0.11926 0.03616 0.722319 0.72657226981831 0 0.999992957786805 TRUE 0.00117379 ENSE00001279085_015 ENSE00001279085 015 8 141716182 141716351 - 36 87 47 G A 141716249 3016 103 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTAGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706149 140706150 140706150 exon -32 0.64367816091954 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCTACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 312 3585 0.988220188154244 0.951664201849794 0.969942195002019 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.00925393240599781 -0.0385178294885267 0.955988704461947 0.984574143543284 NA -0.0146319485412644 NA FALSE NA 1 7.738 rs145314554 missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 14/22 rs145314554 1 possibly_damaging(0.603) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0006 TGG G,A 0.0001812 8:140706150 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 missense_variant 5.172991 0.98991 0.98076 0.722319 0.926843567599817 0 0.999992957786805 TRUE 0.000203074 ENSE00001279085_016 ENSE00001279085 016 8 141716182 141716351 - 36 87 47 T A 141716263 3017 89 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAAACCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706163 140706164 140706164 exon 42 0.482758620689655 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGTTTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1168 977 0.999505676383728 1 0.999752838191864 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.020539420635482 0.00981796866167894 0.955988704461947 0.984574143543284 NA 0.0151786946485805 NA FALSE NA 0.014 -1.586 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 14/22 1 NA ATC T,A 8.236e-06 8:140706164 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 synonymous_variant 2.077169 0.84455 0.09683 0.722319 0.673929790729246 0 0.999992957786805 TRUE 8.12288e-06 ENSE00001279085_017 ENSE00001279085 017 8 141716182 141716351 - 36 87 47 G A 141716269 3018 83 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCACTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706169 140706170 140706170 exon 36 0.413793103448276 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGTGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1132 856 0.998105008385442 0.999279149006836 0.998692078696139 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0191387526371954 0.00909711766851518 0.955988704461947 0.984574143543284 NA 0.0141179351528553 NA FALSE NA 0.11 -0.512 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 14/22 rs529170534 1 NA CGC G,A 8.236e-06 8:140706170 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 synonymous_variant 1.870858 0.92008 0.07068 0.722319 0.712280743788868 0 0.999992957786805 TRUE 8.12374e-06 ENSE00001279085_018 ENSE00001279085 018 8 141716182 141716351 - 36 87 47 C T 141716275 3019 77 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGATCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706175 140706176 140706176 exon 30 0.344827586206897 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGATCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1665 4112 0.996469527768048 0.984687302061315 0.990578414914682 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0175032720198022 -0.00549472927700589 0.955988704461947 0.984574143543284 NA 0.00600427137139814 NA FALSE NA 0.185 -0.827 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 14/22 1 NA ACC C,T 8.236e-06 8:140706176 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 synonymous_variant 1.87342 0.80669 0.07943 0.722319 0.540594563568837 0 0.999992957786805 TRUE 8.12341e-06 ENSE00001279085_019 ENSE00001279085 019 8 141716182 141716351 - 36 87 47 C T 141716278 3020 74 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTTGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706178 140706179 140706179 exon 27 0.310344827586207 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCAAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 964 123 0.998970904573125 0.999689994315282 0.999330449444203 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0200046488248788 0.00950796297696077 0.955988704461947 0.984574143543284 NA 0.0147563059009198 NA FALSE NA 0.052 -1.313 rs137889456 synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 14/22 rs137889456 1 NA TCG C,T 0.0002141 8:140706179 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 synonymous_variant 1.465546 0.1485 0.0211 0.722319 0.467349811129538 0 0.999992957786805 TRUE 0.000178722 ENSE00001279085_020 ENSE00001279085 020 8 141716182 141716351 - 36 87 47 G A 141716279 3021 73 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCAGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706179 140706180 140706180 exon 26 0.298850574712644 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCTGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 340 2858 0.9899771656801 0.997484144740672 0.993730655210386 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0110109099318537 0.00730211340235076 0.955988704461947 0.984574143543284 NA 0.00915651166710224 NA FALSE NA 1 7.738 . missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 14/22 1 probably_damaging(0.988) NA CGG G,A 1.647e-05 8:140706180 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 missense_variant 5.588586 0.98991 0.98076 0.722319 0.998702606280144 0 0.999992957786805 TRUE 8.12381e-06 ENSE00001279085_021 ENSE00001279085 021 8 141716182 141716351 - 36 87 47 G A 141716284 3022 68 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTAGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706184 140706185 140706185 exon 21 0.241379310344828 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCTAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 721 927 0.998295300087049 0.999375895182325 0.998835597634687 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0193290443388029 0.00919386384400356 0.955988704461947 0.984574143543284 NA 0.0142614540914032 NA FALSE NA 0.973 0.044 rs10100025 synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 14/22 rs10100025 1 A:0.1488 A:0.4516 A:0.0591 NA A:0.0784 A:0.007 A:0.0215 A:0.3852 A:0.0031 TGG A,A 0.048 8:140706185 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 synonymous_variant 0.707318 0.78128 0.45959 0.722319 0.4894652541625 0 0.999992957786805 TRUE 0.0405476 ENSE00001279085_022 ENSE00001279085 022 8 141716182 141716351 - 36 87 47 C T 141716293 3023 59 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCTGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706193 140706194 140706194 exon 12 0.137931034482759 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCAGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 2169 1275 0.93184179402032 1 0.96592089701016 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.0471244617279262 0.00981796866167894 0.955988704461947 0.984574143543284 NA -0.0186532465331236 NA FALSE NA 0.956 0.127 . synonymous_variant LOW PTK2 HGNC 9611 ENST00000538769 14/22 1 NA CCG C,T 2.471e-05 8:140706194 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 synonymous_variant 1.884948 0.81642 0.47893 0.722319 0.678029819166482 0 0.999992957786805 TRUE 2.43722e-05 ENSE00001279085_023 ENSE00001279085 023 8 141716182 141716351 - 36 87 47 G A 141716294 3024 58 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCAGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706194 140706195 140706195 exon 11 0.126436781609195 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACTGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1579 2261 0.923885220915977 0.988119624924527 0.956002422920252 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.0550810348322696 -0.00206240641379452 0.955988704461947 0.984574143543284 NA -0.028571720623032 NA FALSE NA 1 7.738 . missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 14/22 1 probably_damaging(0.999) NA CGG G,A 8.236e-06 8:140706195 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 missense_variant 7.168023 0.99 0.9808 0.722319 0.998612485375979 0 0.999992957786805 TRUE 4.06256e-06 ENSE00001279085_025 ENSE00001279085 025 8 141716182 141716351 - 36 87 47 C T 141716300 3026 52 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGTTGGGCTGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706200 140706201 140706201 exon 5 0.0574712643678161 GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAACAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 693 1078 0.74943810404817 0.944605062892909 0.84702158347054 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.229528151700076 -0.0455769684454116 0.955988704461947 0.984574143543284 NA -0.137552560072744 NA FALSE NA 1 6.146 . missense_variant MODERATE PTK2 HGNC 9611 ENST00000538769 14/22 1 possibly_damaging(0.735) NA GCT C,T 1.647e-05 8:140706201 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 missense_variant 6.554731 0.98972 0.96766 0.722319 0.997534667973531 0 0.999992957786805 TRUE 8.1244e-06 ENSE00001279085_027 ENSE00001279085 027 8 141716182 141716351 - 36 87 47 G A 141716319 3028 33 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAAAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706219 140706220 140706220 upstr_intron -15 -0.297872340425532 GTCAAAATCAAAAGGTTCATTCATATGATGCTTTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 978 2639 0.998048122856139 0.848849564885702 0.923448843870921 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0190818671078933 -0.14133246645262 0.955988704461947 0.984574143543284 NA -0.0611252996723631 NA FALSE NA 0.77 0.421 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 13/21 rs541823774 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGA G,A 8.236e-06 8:140706220 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.352854 0.67703 0.25442 0.062308 0.65219739099283 0.113898 0.999992957786805 TRUE NA ENSE00001279085_028 ENSE00001279085 028 8 141716182 141716351 - 36 87 47 A G 141716320 3029 32 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGGGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706220 140706221 140706221 upstr_intron -16 -0.319148936170213 GTCAAAATCAAAAGGTTCATTCATATGATGCCCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 715 2706 0.999017397461645 0.999186788661336 0.99910209306149 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0200511417133987 0.00900475732301509 0.955988704461947 0.984574143543284 NA 0.0145279495182069 NA FALSE NA 0.789 2.701 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 13/21 1 NA GAG A,G 8.236e-06 8:140706221 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.51409 0.83387 0.63225 0.062308 0.741810771138839 0.644238 0.999992957786805 TRUE 1.21948e-05 ENSE00001279085_029 ENSE00001279085 029 8 141716182 141716351 - 36 87 47 A C 141716323 3030 29 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCCTCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706223 140706224 140706224 upstr_intron -19 -0.382978723404255 GTCAAAATCAAAAGGTTCATTCATATGAGGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 933 2508 0.988521229284382 0.845374624641332 0.916947926962857 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.00955497353613555 -0.144807406696989 0.955988704461947 0.984574143543284 NA -0.0676262165804266 NA FALSE NA 0 -0.372 . intron_variant MODIFIER PTK2 HGNC 9611 ENST00000538769 13/21 1 NA CAT A,C 8.236e-06 8:140706224 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.26716 0.20359 0.10359 0.062308 0.695833254193861 0.112627 0.999992957786805 TRUE NA ENSE00001279085_030 ENSE00001279085 030 8 141716182 141716351 - 36 87 47 T C 141716329 3031 23 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATACGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706229 140706230 140706230 upstr_intron -25 -0.51063829787234 GTCAAAATCAAAAGGTTCATTCGTATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 2294 434 0.960889816227487 0.995084959052886 0.977987387640186 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA -0.0180764395207595 0.00490292771456491 0.955988704461947 0.984574143543284 NA -0.00658675590309732 NA FALSE NA 0 0.412 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:140706230 PTK2 HGNC Symbol protein_coding 344316 ENSG00000169398 ENSE00003592207 intron_variant 0.476777 0.16818 0.08773 0.062308 0.585316546171681 0.113898 0.999992957786805 TRUE 0.000183244 ENSE00001279085_031 ENSE00001279085 031 8 141716182 141716351 - 36 87 47 T A 141716329 3032 23 AAATAACACAGTTTATATCTGTAATGACTGGCATACCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGCTGTAAAATCAAGAGAGCATCATAAGAATGAACCTTTTGATTTTGAC 140706082 140706252 140706229 140706230 140706230 upstr_intron -25 -0.51063829787234 GTCAAAATCAAAAGGTTCATTCTTATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT mutant NA NA NA NA NA 1017 2905 0.999094695155792 0.994743319298201 0.996919007226996 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 NA NA 0.0201284394075462 0.00456128795987953 0.955988704461947 0.984574143543284 NA 0.0123448636837128 NA FALSE NA 0 0.412 NA NA NA PTK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTK2 NA NA NA ENSG00000169398 ENSE00003592207 intron_variant 0.699121 0.16689 0.03259 0.062308 0.794472999517402 0.113898 0.999992957786805 TRUE 4.07209e-05 ENSE00001279085_BRK ENSE00001279085 BRK 8 141716182 141716351 - 36 87 47 A,G; T,T NA NA NA AAATAACACAGTTTATATCTGTAATGACTGGCATGGCTGGTAATGATTGGTTTGTACCATGTGCTGTGGGCTGGGATAAAATCCTTCGCTGGACCTCGGACTGGGATAACCCGGTCTGCTGGGAAGTAAAATCAAGAGAGCATCATATGAATGAACCTTTTGATTTTGAC 140706082 140706252 NA NA NA NA NA NA GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACTTCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGCCATGCCAGTCATTACAGATATAAACTGTGTTATTT GTCAAAATCAAAAGGTTCATTCATATGATGCTCTCTTGATTTTACAGCCCAGCAGACCGGGTTATCCCAGTCCGAGGTCCAGCGAAGGATTTTATCCCAGCCCACAGCACATGGTACAAACCAATCATTACCAGGTATGCCAGTCATTACAGATATAAACTGTGTTATTT control 1162 409 0.00339825634764128 0 0.00169912817382064 1778 182 0.0834187980593568 0 0.0417093990296784 0.943149778832754 0.968827630091139 0.978966255748246 0.990182031338321 -0.939751522485113 -0.968827630091139 -0.895547457688889 -0.990182031338321 0.955988704461947 0.984574143543284 -0.954289576288126 -0.942864744513605 0.0114248317745211 TRUE TRUE NA NA NA NA NA PTK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTK2 NA NA NA ENSG00000169398 ENSE00003592207 NA NA NA NA NA NA NA 0.999992957786805 TRUE NA ENSE00001281798_000 ENSE00001281798 000 10 105073907 105074076 - 36 87 47 NA NA NA NA NA ACTTATCTGTTAGACATGGGTATGTCTATAACCTACCTGCATTGCTGCATCACCTATTGCACGTCGGATTTCCCTTAGAGTTTGATACTGCTCCAACAGGTGATCACCACAGATTATATCTACCTATGGACATGAAGAGAGTATTAGATTGATTTCTTGCTTCAAAATAC 103314149 103314319 NA NA NA NA NA NA GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT natural NA NA NA NA NA 1748 1472 0.858847313643382 0.995304429250812 0.927075871447097 NA NA 0.858847313643382 0.995304429250812 NA NA 0 0 NA 0.927075871447097 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCGF6 NA NA NA ENSG00000156374 ENSE00003486860 NA NA NA NA NA NA NA 0.000251716409020373 FALSE NA ENSE00001281798_005 ENSE00001281798 005 10 105073907 105074076 - 36 87 47 T C 105073940 2450 137 ACTTATCTGTTAGACATGGGTATGTCTATAACCCACCTGCATTGCTGCATCACCTATTGCACGTCGGATTTCCCTTAGAGTTTGATACTGCTCCAACAGGTGATCACCACAGATTATATCTACCTATGGACATGAAGAGAGTATTAGATTGATTTCTTGCTTCAAAATAC 103314149 103314319 103314182 103314183 103314183 downstr_intron 3 1.08571428571429 GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTGGGTTATAGACATACCCATGTCTAACAGATAAGT GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT mutant NA NA NA NA NA 61 326 1 0.999883176213385 0.999941588106693 NA NA 0.858847313643382 0.995304429250812 NA NA 0.141152686356618 0.00457874696257377 NA 0.927075871447097 NA 0.0728657166595959 NA FALSE NA 0.229 -0.087 NA NA NA RNU11-3P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:103314183 PCGF6 HGNC Symbol protein_coding 48338 ENSG00000156374 ENSE00003486860 splice_region_variant 0.314761 0.94138 0.26023 0.106106 0.584014872555134 0.345566 0.000251716409020373 FALSE 4.14704e-06 ENSE00001281798_006 ENSE00001281798 006 10 105073907 105074076 - 36 87 47 T C 105073948 2451 129 ACTTATCTGTTAGACATGGGTATGTCTATAACCTACCTGCACTGCTGCATCACCTATTGCACGTCGGATTTCCCTTAGAGTTTGATACTGCTCCAACAGGTGATCACCACAGATTATATCTACCTATGGACATGAAGAGAGTATTAGATTGATTTCTTGCTTCAAAATAC 103314149 103314319 103314190 103314191 103314191 exon -6 0.942528735632184 GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAGTGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT mutant NA NA NA NA NA 154 33 0.950393921181843 1 0.975196960590921 NA NA 0.858847313643382 0.995304429250812 NA NA 0.0915466075384608 0.00469557074918836 NA 0.927075871447097 NA 0.0481210891438246 NA FALSE NA 1 1.369 . upstream_gene_variant MODIFIER RNU11-3P HGNC 46943 ENST00000391111 1 NA ATT T,C 8.236e-06 10:103314191 PCGF6 HGNC Symbol protein_coding 48338 ENSG00000156374 ENSE00003486860 missense_variant 0.968343 0.96465 0.67794 0.475973 0.847346183723873 0 0.000251716409020373 FALSE 8.24803e-06 ENSE00001281798_008 ENSE00001281798 008 10 105073907 105074076 - 36 87 47 T C 105073963 2453 114 ACTTATCTGTTAGACATGGGTATGTCTATAACCTACCTGCATTGCTGCATCACCTACTGCACGTCGGATTTCCCTTAGAGTTTGATACTGCTCCAACAGGTGATCACCACAGATTATATCTACCTATGGACATGAAGAGAGTATTAGATTGATTTCTTGCTTCAAAATAC 103314149 103314319 103314205 103314206 103314206 exon -21 0.770114942528736 GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAGTAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT mutant NA NA NA NA NA 667 141 0.99693945448769 1 0.998469727243845 NA NA 0.858847313643382 0.995304429250812 NA NA 0.138092140844308 0.00469557074918836 NA 0.927075871447097 NA 0.0713938557967481 NA FALSE NA 0.954 1.298 . upstream_gene_variant MODIFIER RNU11-3P HGNC 46943 ENST00000391111 1 NA ATT T,C 4.942e-05 10:103314206 PCGF6 HGNC Symbol protein_coding 48338 ENSG00000156374 ENSE00003486860 missense_variant 0.840285 0.96402 0.66915 0.562547 0.961248587077359 0 0.000251716409020373 FALSE 6.55958e-05 ENSE00001281798_012 ENSE00001281798 012 10 105073907 105074076 - 36 87 47 T C 105073992 2457 85 ACTTATCTGTTAGACATGGGTATGTCTATAACCTACCTGCATTGCTGCATCACCTATTGCACGTCGGATTTCCCTTAGAGTTTGACACTGCTCCAACAGGTGATCACCACAGATTATATCTACCTATGGACATGAAGAGAGTATTAGATTGATTTCTTGCTTCAAAATAC 103314149 103314319 103314234 103314235 103314235 exon 38 0.436781609195402 GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTGTCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT mutant NA NA NA NA NA 691 15 1 1 1 NA NA 0.858847313643382 0.995304429250812 NA NA 0.141152686356618 0.00469557074918836 NA 0.927075871447097 NA 0.0729241285529032 NA FALSE NA 1 1.96 . upstream_gene_variant MODIFIER RNU11-3P HGNC 46943 ENST00000391111 1 NA ATA T,C 7.413e-05 10:103314235 PCGF6 HGNC Symbol protein_coding 48338 ENSG00000156374 ENSE00003486860 missense_variant 2.444621 0.96471 0.75501 0.562547 0.539241523489403 0 0.000251716409020373 FALSE 7.40345e-05 ENSE00001281798_015 ENSE00001281798 015 10 105073907 105074076 - 36 87 47 A C 105074036 2460 41 ACTTATCTGTTAGACATGGGTATGTCTATAACCTACCTGCATTGCTGCATCACCTATTGCACGTCGGATTTCCCTTAGAGTTTGATACTGCTCCAACAGGTGATCACCACAGATTATATCTACCTATGGCCATGAAGAGAGTATTAGATTGATTTCTTGCTTCAAAATAC 103314149 103314319 103314278 103314279 103314279 upstr_intron -7 -0.127659574468085 GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGGCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT mutant NA NA NA NA NA 1533 586 0.798608943945157 0.702335891407092 0.750472417676124 NA NA 0.858847313643382 0.995304429250812 NA NA -0.0602383696982254 -0.29296853784372 NA 0.927075871447097 NA -0.176603453770973 NA FALSE NA 0 -0.35 . upstream_gene_variant MODIFIER RNU11-3P HGNC 46943 ENST00000391111 1 NA GAC A,C 8.236e-06 10:103314279 PCGF6 HGNC Symbol protein_coding 48338 ENSG00000156374 ENSE00003486860 splice_region_variant -0.171078 0.2014 0.04001 0.106106 0.617054836042049 0.129524 0.000251716409020373 FALSE 4.38766e-06 ENSE00001281798_BRK ENSE00001281798 BRK 10 105073907 105074076 - 36 87 47 A,G; T,T NA NA NA ACTTATCTGTTAGACATGGGTATGTCTATAACCTGGCTGCATTGCTGCATCACCTATTGCACGTCGGATTTCCCTTAGAGTTTGATACTGCTCCAACAGGTGATCACCACAGATTATATCTACAAATGGACATGAAGAGAGTATTAGATTGATTTCTTGCTTCAAAATAC 103314149 103314319 NA NA NA NA NA NA GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATTTGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGCCAGGTTATAGACATACCCATGTCTAACAGATAAGT GTATTTTGAAGCAAGAAATCAATCTAATACTCTCTTCATGTCCATAGGTAGATATAATCTGTGGTGATCACCTGTTGGAGCAGTATCAAACTCTAAGGGAAATCCGACGTGCAATAGGTGATGCAGCAATGCAGGTAGGTTATAGACATACCCATGTCTAACAGATAAGT control NA NA NA NA NA 20 50 0 0 0 NA NA 0.858847313643382 0.995304429250812 NA NA -0.858847313643382 -0.995304429250812 NA 0.927075871447097 NA -0.927075871447097 NA TRUE NA NA NA NA NA NA RNU11-3P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCGF6 NA NA NA ENSG00000156374 ENSE00003486860 NA NA NA NA NA NA NA 0.000251716409020373 FALSE NA ENSE00001287239_000 ENSE00001287239 000 14 105834746 105834915 + 50 81 39 NA NA NA NA NA TCGCCTTCCCCAGCATTCATAGAAGCAGTCTCCACCAACCCTGGTCATGGACGTCGTTCTTACAATCGATCTCCGCTGCTTCTTCGGCTTCCCCACGTCAAAGTCGTCCTCGTCCAAGTCCTGCAGAGACATATGCAGTGGCTGAGGCCACGGCAGCCTGCATAGTGCTG 105368408 105368578 NA NA NA NA NA NA CAGCACTATGCAGGCTGCCGTGGCCTCAGCCACTGCATATGTCTCTGCAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTAAGAACGACGTCCATGACCAGGGTTGGTGGAGACTGCTTCTATGAATGCTGGGGAAGGCGA CAGCACTATGCAGGCTGCCGTGGCCTCAGCCACTGCATATGTCTCTGCAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTAAGAACGACGTCCATGACCAGGGTTGGTGGAGACTGCTTCTATGAATGCTGGGGAAGGCGA natural 21 34 0.989919095795508 0.967515600757423 0.978717348276465 49 1427 0.959144810298211 0.98858882765608 0.973866818977146 0.989919095795508 0.967515600757423 0.959144810298211 0.98858882765608 0 0 0 0 0.978717348276465 0.973866818977146 0 0 0 FALSE FALSE NA NA NA NA NA PACS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PACS2 NA NA NA ENSG00000179364 ENSE00003477025 NA NA NA NA NA NA NA 0.999324515491581 TRUE NA ENSE00001287239_008 ENSE00001287239 008 14 105834746 105834915 + 50 81 39 C A 105834793 1887 48 TCGCCTTCCCCAGCATTCATAGAAGCAGTCTCCACCAACCCTGGTCATGGACGTCGTTCTTACAATCGATCTCCGCTGCTTCTTCGGCTTCCCCACGTCAAAGTCGTCCTCGTCCAAGTCCTTCAGAGACATATGCAGTGGCTGAGGCCACGGCAGCCTGCATAGTGCTG 105368408 105368578 105368455 105368456 105368456 upstr_intron -3 -0.04 CAGCACTATGCAGGCTGCCGTGGCCTCAGCCACTGCATATGTCTCTGAAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTAAGAACGACGTCCATGACCAGGGTTGGTGGAGACTGCTTCTATGAATGCTGGGGAAGGCGA CAGCACTATGCAGGCTGCCGTGGCCTCAGCCACTGCATATGTCTCTGCAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTAAGAACGACGTCCATGACCAGGGTTGGTGGAGACTGCTTCTATGAATGCTGGGGAAGGCGA mutant 26 11 0.913805303167441 0.85 0.881902651583721 NA NA NA NA NA 0.989919095795508 0.967515600757423 0.959144810298211 0.98858882765608 -0.0761137926280662 -0.117515600757423 NA NA 0.978717348276465 0.973866818977146 -0.0968146966927445 NA NA NA FALSE 0.677 1.747 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PACS2 HGNC 23794 ENST00000551692 1/17 1 NA GCA C,A 1.647e-05 14:105368456 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00003477025 splice_region_variant 0.800656 0.92784 0.91433 0.262962 0.763979968837258 0.244912 0.999324515491581 TRUE 8.13167e-06 ENSE00001287239_021 ENSE00001287239 021 14 105834746 105834915 + 50 81 39 A G 105834835 1900 90 TCGCCTTCCCCAGCATTCATAGAAGCAGTCTCCACCAACCCTGGTCATGGACGTCGTTCTTACAATCGATCTCCGCTGCTCCTTCGGCTTCCCCACGTCAAAGTCGTCCTCGTCCAAGTCCTGCAGAGACATATGCAGTGGCTGAGGCCACGGCAGCCTGCATAGTGCTG 105368408 105368578 105368497 105368498 105368498 exon 40 0.493827160493827 CAGCACTATGCAGGCTGCCGTGGCCTCAGCCACTGCATATGTCTCTGCAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGGAGCAGCGGAGATCGATTGTAAGAACGACGTCCATGACCAGGGTTGGTGGAGACTGCTTCTATGAATGCTGGGGAAGGCGA CAGCACTATGCAGGCTGCCGTGGCCTCAGCCACTGCATATGTCTCTGCAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTAAGAACGACGTCCATGACCAGGGTTGGTGGAGACTGCTTCTATGAATGCTGGGGAAGGCGA mutant NA NA NA NA NA 55 50 1 1 1 0.989919095795508 0.967515600757423 0.959144810298211 0.98858882765608 NA NA 0.0408551897017894 0.0114111723439195 0.978717348276465 0.973866818977146 NA 0.0261331810228544 NA FALSE NA 1 5.5 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS2 HGNC 23794 ENST00000551692 2/18 1 NA GAA A,G 1.647e-05 14:105368498 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00003477025 missense_variant 2.03311 0.97675 0.98161 0.706548 0.997038861465439 0 0.999324515491581 TRUE 8.12585e-06 ENSE00001287239_030 ENSE00001287239 030 14 105834746 105834915 + 50 81 39 C T 105834863 1909 118 TCGCCTTCCCCAGCATTCATAGAAGCAGTCTCCACCAACCCTGGTCATGGACATCGTTCTTACAATCGATCTCCGCTGCTTCTTCGGCTTCCCCACGTCAAAGTCGTCCTCGTCCAAGTCCTGCAGAGACATATGCAGTGGCTGAGGCCACGGCAGCCTGCATAGTGCTG 105368408 105368578 105368525 105368526 105368526 exon -14 0.839506172839506 CAGCACTATGCAGGCTGCCGTGGCCTCAGCCACTGCATATGTCTCTGCAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTAAGAACGATGTCCATGACCAGGGTTGGTGGAGACTGCTTCTATGAATGCTGGGGAAGGCGA CAGCACTATGCAGGCTGCCGTGGCCTCAGCCACTGCATATGTCTCTGCAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTAAGAACGACGTCCATGACCAGGGTTGGTGGAGACTGCTTCTATGAATGCTGGGGAAGGCGA mutant NA NA NA NA NA 40 236 1 1 1 0.989919095795508 0.967515600757423 0.959144810298211 0.98858882765608 NA NA 0.0408551897017894 0.0114111723439195 0.978717348276465 0.973866818977146 NA 0.0261331810228544 NA FALSE NA 1 5.442 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS2 HGNC 23794 ENST00000551692 2/18 1 NA ACG C,T 8.237e-06 14:105368526 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00003477025 missense_variant 6.15237 0.98082 0.97056 0.706548 0.998613737698579 0 0.999324515491581 TRUE 8.12731e-06 ENSE00001287267_000 ENSE00001287267 000 14 105818670 105818839 + 45 90 35 NA NA NA NA NA TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 NA NA NA NA NA NA TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC natural 35 11 0.99682643064493 1 0.998413215322465 1222 1839 0.992056698573693 0.943402060290453 0.967729379432073 0.99682643064493 1 0.992056698573693 0.943402060290453 0 0 0 0 0.998413215322465 0.967729379432073 0 0 0 FALSE FALSE NA NA NA NA NA PACS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PACS2 NA NA NA ENSG00000179364 ENSE00001287267 NA NA NA NA NA NA NA 0.999324515491581 TRUE NA ENSE00001287267_001 ENSE00001287267 001 14 105818670 105818839 + 45 90 35 G A 105818688 1857 19 TGATATGCAGTCCTTTGAACTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352350 105352351 105352351 upstr_intron -27 -0.577777777777778 TGATATGCAGTCCTTTGAACTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 452 155 0.998994151731908 0.918726538863085 0.958860345297496 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00693745315821481 -0.0246755214273683 0.998413215322465 0.967729379432073 NA -0.00886903413457674 NA FALSE NA 0 -1.226 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA AGC G,A 8.236e-06 14:105352351 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant 0.089011 0.77704 0.00268 0.158681 0.810820846288357 0.0588846 0.999324515491581 TRUE 4.07621e-06 ENSE00001287267_002 ENSE00001287267 002 14 105818670 105818839 + 45 90 35 T C 105818699 1858 30 TGATATGCAGTCCTTTGAGCTAGAACAGGCCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352361 105352362 105352362 upstr_intron -16 -0.333333333333333 TGATATGCAGTCCTTTGAGCTAGAACAGGCCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 122 168 0.910321359945089 0.946434552372102 0.928377956158596 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA -0.0817353386286034 0.00303249208164835 0.998413215322465 0.967729379432073 NA -0.0393514232734775 NA FALSE NA 0 0.493 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA GTC T,C 2.471e-05 14:105352362 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant 0.3169 0.89979 0.02088 0.158681 0.815073231493957 0.0588846 0.999324515491581 TRUE 2.44236e-05 ENSE00001287267_003 ENSE00001287267 003 14 105818670 105818839 + 45 90 35 G A 105818703 1859 34 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTACTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352365 105352366 105352366 upstr_intron -12 -0.244444444444444 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTACTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 246 1362 0.979621995053509 0.986160899533022 0.982891447293265 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA -0.0124347035201842 0.042758839242569 0.998413215322465 0.967729379432073 NA 0.0151620678611924 NA FALSE NA 0.007 1 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA TGC G,A 0.0002306 14:105352366 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant 0.340015 0.90993 0.16711 0.158681 0.780936790446323 0.127725 0.999324515491581 TRUE 0.000223777 ENSE00001287267_004 ENSE00001287267 004 14 105818670 105818839 + 45 90 35 A G 105818711 1860 42 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCGCAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352373 105352374 105352374 upstr_intron -4 -0.0666666666666667 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCGCAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 356 534 0.962893782165502 0.949708189212918 0.95630098568921 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA -0.0291629164081905 0.00630612892246418 0.998413215322465 0.967729379432073 NA -0.0114283937428631 NA FALSE NA 0 -0.704 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA CAC A,G 3.295e-05 14:105352374 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 splice_region_variant 0.340023 0.88243 0.03332 0 0.720128049058727 0.198737 0.999324515491581 TRUE 2.84759e-05 ENSE00001287267_006 ENSE00001287267 006 14 105818670 105818839 + 45 90 35 G A 105818725 1862 56 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACAAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352387 105352388 105352388 exon 11 0.122222222222222 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACAAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 236 486 0.979301279615933 0.952778089429042 0.966039684522487 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA -0.0127554189577597 0.00937602913858848 0.998413215322465 0.967729379432073 NA -0.00168969490958559 NA FALSE NA 1 9.226 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA CGA G,A 8.236e-06 14:105352388 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 missense_variant 5.169104 0.99866 0.9473 0.839682 0.999249805774765 0 0.999324515491581 TRUE 4.06683e-06 ENSE00001287267_007 ENSE00001287267 007 14 105818670 105818839 + 45 90 35 G A 105818734 1863 65 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCAGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352396 105352397 105352397 exon 20 0.222222222222222 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCAGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 133 315 0.975739466866241 0.987741826078636 0.981740646472439 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA -0.0163172317074514 0.0443397657881828 0.998413215322465 0.967729379432073 NA 0.0140112670403657 NA FALSE NA 1 9.226 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA CGG G,A 8.236e-06 14:105352397 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 missense_variant 7.148278 0.9991 0.95801 0.839682 0.999342263612861 0 0.999324515491581 TRUE 4.0662e-06 ENSE00001287267_008 ENSE00001287267 008 14 105818670 105818839 + 45 90 35 C T 105818757 1864 88 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCTCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352419 105352420 105352420 exon 43 0.477777777777778 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCTCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 40 1049 1 0.999192744466339 0.99959637223317 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00794330142630717 0.0557906841758858 0.998413215322465 0.967729379432073 NA 0.0318669928010965 NA FALSE NA 1 4.503 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA CCC C,T 8.236e-06 14:105352420 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 missense_variant 4.937193 0.99909 0.90476 0.839682 0.997814584432364 0 0.999324515491581 TRUE 4.06514e-06 ENSE00001287267_009 ENSE00001287267 009 14 105818670 105818839 + 45 90 35 C T 105818759 1865 90 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCTAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352421 105352422 105352422 exon 45 0.5 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCTAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 1416 277 0.966959107080363 0.960154215374075 0.963556661227219 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA -0.0250975914933298 0.0167521550836213 0.998413215322465 0.967729379432073 NA -0.00417271820485426 NA FALSE NA 0.847 0.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:105352422 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 synonymous_variant 2.182779 0.99671 0.59219 0.839682 0.666079952287182 0 0.999324515491581 TRUE 8.13002e-06 ENSE00001287267_010 ENSE00001287267 010 14 105818670 105818839 + 45 90 35 C A 105818759 1866 90 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCAAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352421 105352422 105352422 exon 45 0.5 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCAAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 298 75 1 1 1 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00794330142630717 0.0565979397095466 0.998413215322465 0.967729379432073 NA 0.0322706205679269 NA FALSE NA 0.847 0.081 NA NA NA PACS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PACS2 NA NA NA ENSG00000179364 ENSE00001287267 synonymous_variant 2.628832 0.9968 0.65145 0.839682 0.848527303952351 0 0.999324515491581 TRUE 6.50401e-05 ENSE00001287267_011 ENSE00001287267 011 14 105818670 105818839 + 45 90 35 A G 105818760 1867 91 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCGGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352422 105352423 105352423 exon -45 0.511111111111111 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCGGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 191 271 0.997164850613676 0.999010884081926 0.998087867347801 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00510815203998327 0.0556088237914728 0.998413215322465 0.967729379432073 NA 0.030358487915728 NA FALSE NA 0.998 4.102 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA CAG A,G 4.942e-05 14:105352423 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 missense_variant 2.171413 0.99802 0.85618 0.839682 0.979179589983274 0 0.999324515491581 TRUE 6.50433e-05 ENSE00001287267_013 ENSE00001287267 013 14 105818670 105818839 + 45 90 35 G A 105818764 1869 95 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGAACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352426 105352427 105352427 exon -41 0.555555555555556 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGAACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 54 133 1 1 1 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00794330142630717 0.0565979397095466 0.998413215322465 0.967729379432073 NA 0.0322706205679269 NA FALSE NA 1 9.226 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA GGA G,A 2.471e-05 14:105352427 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 missense_variant 6.252718 0.99867 0.94742 0.839682 0.997593107635776 0 0.999324515491581 TRUE 1.2196e-05 ENSE00001287267_014 ENSE00001287267 014 14 105818670 105818839 + 45 90 35 C G 105818786 1870 117 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCGCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352448 105352449 105352449 exon -19 0.8 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCGCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 1149 1933 0.999964177904123 0.994726417881684 0.997345297892904 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00790747933043057 0.0513243575912309 0.998413215322465 0.967729379432073 NA 0.0296159184608307 NA FALSE NA 0 -2.85 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA CCC C,G 8.237e-06 14:105352449 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 synonymous_variant 2.036823 0.99422 0.11271 0.839682 0.834546491335984 0 0.999324515491581 TRUE 4.06656e-06 ENSE00001287267_015 ENSE00001287267 015 14 105818670 105818839 + 45 90 35 G A 105818804 1871 135 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAAGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352466 105352467 105352467 exon -1 1 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAAGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 151 50 0.8 0.8 0.8 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA -0.192056698573693 -0.143402060290453 0.998413215322465 0.967729379432073 NA -0.167729379432073 NA FALSE NA 1 9.226 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA AGG G,A 8.237e-06 14:105352467 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 splice_region_variant 1.624311 0.99896 0.96629 0.631981 0.930291502107748 0 0.999324515491581 TRUE 4.06994e-06 ENSE00001287267_016 ENSE00001287267 016 14 105818670 105818839 + 45 90 35 T C 105818814 1872 145 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTCCACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352476 105352477 105352477 downstr_intron 10 1.29411764705882 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTCCACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 560 768 0.987452723234486 0.996298596566339 0.991875659900413 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA -0.00460397533920665 0.0528965362758856 0.998413215322465 0.967729379432073 NA 0.0241462804683395 NA FALSE NA 0 -0.687 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA TTC T,C 8.238e-06 14:105352477 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant -0.235554 0.8685 0.02432 0 0.723871573051257 0.045739 0.999324515491581 TRUE 4.07312e-06 ENSE00001287267_017 ENSE00001287267 017 14 105818670 105818839 + 45 90 35 C A 105818815 1873 146 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTAACCAGTGGTGACGACACCCTCATC 105352332 105352502 105352477 105352478 105352478 downstr_intron 11 1.32352941176471 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTAACCAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 417 212 0.997046945601131 0.995950341816193 0.996498643708662 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.004990247027438 0.0525482815257395 0.998413215322465 0.967729379432073 NA 0.0287692642765888 NA FALSE NA 0 1.029 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA TCA C,A 8.237e-06 14:105352478 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant 0.112736 0.89168 0.1042 0 0.684830667729714 0.045739 0.999324515491581 TRUE 4.07339e-06 ENSE00001287267_019 ENSE00001287267 019 14 105818670 105818839 + 45 90 35 C T 105818818 1875 149 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACTAGTGGTGACGACACCCTCATC 105352332 105352502 105352480 105352481 105352481 downstr_intron 14 1.41176470588235 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACTAGTGGTGACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 81 505 0.994805892671357 0.994214509541807 0.994510201106582 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00274919409766394 0.050812449251354 0.998413215322465 0.967729379432073 NA 0.026780821674509 NA FALSE NA 0.001 1.693 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA CCA C,T 0.0001895 14:105352481 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant 0.23255 0.86804 0.08617 0 0.650390827893934 0.0461708 0.999324515491581 TRUE 0.000126307 ENSE00001287267_021 ENSE00001287267 021 14 105818670 105818839 + 45 90 35 G T 105818825 1877 156 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTTACGACACCCTCATC 105352332 105352502 105352487 105352488 105352488 downstr_intron 21 1.61764705882353 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTTACGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 10 215 1 0.99926369467686 0.99963184733843 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00794330142630717 0.0558616343864068 0.998413215322465 0.967729379432073 NA 0.031902467906357 NA FALSE NA 0 0.569 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA TGA G,T 8.238e-06 14:105352488 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant -0.056408 0.89008 0.1036 0 0.43705880975555 0.0466053 0.999324515491581 TRUE 4.07924e-06 ENSE00001287267_022 ENSE00001287267 022 14 105818670 105818839 + 45 90 35 C T 105818827 1878 158 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGATGACACCCTCATC 105352332 105352502 105352489 105352490 105352490 downstr_intron 23 1.67647058823529 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGATGACACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 17 296 1 0.974495035828272 0.987247517914136 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.00794330142630717 0.0310929755378184 0.998413215322465 0.967729379432073 NA 0.0195181384820628 NA FALSE NA 0 -3.116 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA ACG C,T 4.119e-05 14:105352490 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant -0.446187 0.68017 0.00478 0 0.410030367023367 0.0466053 0.999324515491581 TRUE 4.49119e-05 ENSE00001287267_023 ENSE00001287267 023 14 105818670 105818839 + 45 90 35 A G 105818829 1879 160 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGGCACCCTCATC 105352332 105352502 105352491 105352492 105352492 downstr_intron 25 1.73529411764706 TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGGCACCCTCATC TGATATGCAGTCCTTTGAGCTAGAACAGGTCTTGCTTAATCACAGGGCTCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGGTGAGTCTTTCACCAGTGGTGACGACACCCTCATC mutant NA NA NA NA NA 323 595 0.993719201017934 0.97583567347671 0.984777437247322 0.99682643064493 1 0.992056698573693 0.943402060290453 NA NA 0.0016625024442416 0.032433613186257 0.998413215322465 0.967729379432073 NA 0.0170480578152493 NA FALSE NA 0 -0.765 . intron_variant MODIFIER PACS2 HGNC 23794 ENST00000547217 2/22 1 NA GAC A,G 8.238e-06 14:105352492 PACS2 HGNC Symbol protein_coding 97584 ENSG00000179364 ENSE00001287267 intron_variant 0.017312 0.82042 0.02583 0 0.483096600514705 0.0466053 0.999324515491581 TRUE 1.22576e-05 ENSE00001287970_000 ENSE00001287970 000 4 5682934 5683103 - 53 54 63 NA NA NA NA NA CCACACAGCACAGGTGTGTCCTGAGGGTGCTCAGGGCATGTCATGTCTCTTACCGTTACGTTTTCTTCTGCTGTTATGGAAAAAAGCACTTTCAGCTGTGTTCTGTTCTAGAAAAGGAAAAAAGAAAACACTTTCAGCAACAGTTTGGGGTCTGACACGTGGGATAACAT 5681206 5681376 NA NA NA NA NA NA ATGTTATCCCACGTGTCAGACCCCAAACTGTTGCTGAAAGTGTTTTCTTTTTTCCTTTTCTAGAACAGAACACAGCTGAAAGTGCTTTTTTCCATAACAGCAGAAGAAAACGTAACGGTAAGAGACATGACATGCCCTGAGCACCCTCAGGACACACCTGTGCTGTGTGG ATGTTATCCCACGTGTCAGACCCCAAACTGTTGCTGAAAGTGTTTTCTTTTTTCCTTTTCTAGAACAGAACACAGCTGAAAGTGCTTTTTTCCATAACAGCAGAAGAAAACGTAACGGTAAGAGACATGACATGCCCTGAGCACCCTCAGGACACACCTGTGCTGTGTGG natural 12 13 0.994425578038237 0.996341730253406 0.995383654145822 3104 2255 0.995309053897784 0.984082198489613 0.989695626193699 0.994425578038237 0.996341730253406 0.995309053897784 0.984082198489613 0 0 0 0 0.995383654145822 0.989695626193699 0 0 0 FALSE FALSE NA NA NA NA NA EVC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EVC2 NA NA NA ENSG00000173040 ENSE00001287970 NA NA NA NA NA NA NA 1.0533170759541e-21 FALSE NA ENSE00001287970_001 ENSE00001287970 001 4 5682934 5683103 - 53 54 63 C T 5682944 224 160 CCACACAGCATAGGTGTGTCCTGAGGGTGCTCAGGGCATGTCATGTCTCTTACCGTTACGTTTTCTTCTGCTGTTATGGAAAAAAGCACTTTCAGCTGTGTTCTGTTCTAGAAAAGGAAAAAAGAAAACACTTTCAGCAACAGTTTGGGGTCTGACACGTGGGATAACAT 5681206 5681376 5681216 5681217 5681217 downstr_intron 43 1.82692307692308 ATGTTATCCCACGTGTCAGACCCCAAACTGTTGCTGAAAGTGTTTTCTTTTTTCCTTTTCTAGAACAGAACACAGCTGAAAGTGCTTTTTTCCATAACAGCAGAAGAAAACGTAACGGTAAGAGACATGACATGCCCTGAGCACCCTCAGGACACACCTATGCTGTGTGG ATGTTATCCCACGTGTCAGACCCCAAACTGTTGCTGAAAGTGTTTTCTTTTTTCCTTTTCTAGAACAGAACACAGCTGAAAGTGCTTTTTTCCATAACAGCAGAAGAAAACGTAACGGTAAGAGACATGACATGCCCTGAGCACCCTCAGGACACACCTGTGCTGTGTGG mutant NA NA NA NA NA 29 277 1 1 1 0.994425578038237 0.996341730253406 0.995309053897784 0.984082198489613 NA NA 0.00469094610221588 0.0159178015103866 0.995383654145822 0.989695626193699 NA 0.0103043738063012 NA FALSE NA 0 -2.521 . intron_variant&NMD_transcript_variant MODIFIER EVC2 HGNC 19747 ENST00000475313 7/22 rs199619144 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0045 T:0 ACA C,T 0.0003295 4:5681217 EVC2 HGNC Symbol protein_coding 166776 ENSG00000173040 ENSE00001287970 intron_variant 0.034926 0.09834 0.01065 0.062308 0.556279723556091 0.0616993 1.0533170759541e-21 FALSE 0.000300735 ENSE00001287970_016 ENSE00001287970 016 4 5682934 5683103 - 53 54 63 C T 5683001 239 103 CCACACAGCACAGGTGTGTCCTGAGGGTGCTCAGGGCATGTCATGTCTCTTACCGTTACGTTTTCTTTTGCTGTTATGGAAAAAAGCACTTTCAGCTGTGTTCTGTTCTAGAAAAGGAAAAAAGAAAACACTTTCAGCAACAGTTTGGGGTCTGACACGTGGGATAACAT 5681206 5681376 5681273 5681274 5681274 exon -15 0.740740740740741 ATGTTATCCCACGTGTCAGACCCCAAACTGTTGCTGAAAGTGTTTTCTTTTTTCCTTTTCTAGAACAGAACACAGCTGAAAGTGCTTTTTTCCATAACAGCAAAAGAAAACGTAACGGTAAGAGACATGACATGCCCTGAGCACCCTCAGGACACACCTGTGCTGTGTGG ATGTTATCCCACGTGTCAGACCCCAAACTGTTGCTGAAAGTGTTTTCTTTTTTCCTTTTCTAGAACAGAACACAGCTGAAAGTGCTTTTTTCCATAACAGCAGAAGAAAACGTAACGGTAAGAGACATGACATGCCCTGAGCACCCTCAGGACACACCTGTGCTGTGTGG mutant NA NA NA NA NA 53 256 0.913976037005137 1 0.956988018502568 0.994425578038237 0.996341730253406 0.995309053897784 0.984082198489613 NA NA -0.0813330168926476 0.0159178015103866 0.995383654145822 0.989695626193699 NA -0.0327076076911305 NA FALSE NA 0.566 1.206 . missense_variant&NMD_transcript_variant MODERATE EVC2 HGNC 19747 ENST00000475313 7/23 1 tolerated(0.29) benign(0.297) NA TCT C,T 8.236e-06 4:5681274 EVC2 HGNC Symbol protein_coding 166776 ENSG00000173040 ENSE00001287970 missense_variant 3.501092 0.82876 0.57143 0.615465 0.98452484154964 0 1.0533170759541e-21 FALSE 4.06101e-06 ENSE00001287970_019 ENSE00001287970 019 4 5682934 5683103 - 53 54 63 A C 5683018 242 86 CCACACAGCACAGGTGTGTCCTGAGGGTGCTCAGGGCATGTCATGTCTCTTACCGTTACGTTTTCTTCTGCTGTTATGGAAAAACGCACTTTCAGCTGTGTTCTGTTCTAGAAAAGGAAAAAAGAAAACACTTTCAGCAACAGTTTGGGGTCTGACACGTGGGATAACAT 5681206 5681376 5681290 5681291 5681291 exon 23 0.425925925925926 ATGTTATCCCACGTGTCAGACCCCAAACTGTTGCTGAAAGTGTTTTCTTTTTTCCTTTTCTAGAACAGAACACAGCTGAAAGTGCGTTTTTCCATAACAGCAGAAGAAAACGTAACGGTAAGAGACATGACATGCCCTGAGCACCCTCAGGACACACCTGTGCTGTGTGG ATGTTATCCCACGTGTCAGACCCCAAACTGTTGCTGAAAGTGTTTTCTTTTTTCCTTTTCTAGAACAGAACACAGCTGAAAGTGCTTTTTTCCATAACAGCAGAAGAAAACGTAACGGTAAGAGACATGACATGCCCTGAGCACCCTCAGGACACACCTGTGCTGTGTGG mutant NA NA NA NA NA 31 28 1 1 1 0.994425578038237 0.996341730253406 0.995309053897784 0.984082198489613 NA NA 0.00469094610221588 0.0159178015103866 0.995383654145822 0.989695626193699 NA 0.0103043738063012 NA FALSE NA 0.005 -0.056 . missense_variant&NMD_transcript_variant MODERATE EVC2 HGNC 19747 ENST00000475313 7/23 1 tolerated(0.13) benign(0.007) NA AAG A,C 8.236e-06 4:5681291 EVC2 HGNC Symbol protein_coding 166776 ENSG00000173040 ENSE00001287970 missense_variant -1.392086 0.11598 0.02324 0.615465 0.473351952509574 0 1.0533170759541e-21 FALSE 4.06128e-06 ENSE00001292057_000 ENSE00001292057 000 16 8857876 8858045 + 50 81 39 NA NA NA NA NA AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 NA NA NA NA NA NA AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG natural 132 186 0.986061674727037 0.994227222221543 0.99014444847429 6310 1247 0.855682099255003 0.996084120627977 0.92588310994149 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0 0 0 0 0.99014444847429 0.92588310994149 0 0 0 FALSE FALSE NA NA NA NA NA ABAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABAT NA NA NA ENSG00000183044 ENSE00003472248 NA NA NA NA NA NA NA 0.374368506048295 FALSE NA ENSE00001292057_001 ENSE00001292057 001 16 8857876 8858045 + 50 81 39 C T 8857891 664 16 AGCTGGGTCAGGCCCTCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764033 8764034 8764034 upstr_intron -35 -0.68 AGCTGGGTCAGGCCCTCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 61 61 0.998804163722453 0.999915788421376 0.999359976071915 271 159 0.999434059692171 1 0.999717029846085 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0127424889954159 0.00568856619983305 0.143751960437168 0.00391587937202265 0.99014444847429 0.92588310994149 0.00921552759762445 0.0738339199045952 0.0646183923069708 FALSE FALSE 0 -2.782 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA CCC C,T 8.236e-06 16:8764034 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant 0.342171 0.14082 0.00284 0.164513 0.701089888510751 0.0613665 0.374368506048295 FALSE 4.06375e-06 ENSE00001292057_002 ENSE00001292057 002 16 8857876 8858045 + 50 81 39 C A 8857902 665 27 AGCTGGGTCAGGCCCCCAGAAGTCACAATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764044 8764045 8764045 upstr_intron -24 -0.46 AGCTGGGTCAGGCCCCCAGAAGTCACAATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 306 201 0.961451196133271 0.968015319946507 0.964733258039889 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.105769096878268 -0.0280688006814704 0.99014444847429 0.92588310994149 NA 0.0388501480983989 NA FALSE NA 0 -3.03 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:8764045 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant 0.223705 0.10461 0.01677 0.164513 0.735951717490478 0.0902864 0.374368506048295 FALSE 4.06217e-06 ENSE00001292057_003 ENSE00001292057 003 16 8857876 8858045 + 50 81 39 C T 8857902 666 27 AGCTGGGTCAGGCCCCCAGAAGTCACTATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764044 8764045 8764045 upstr_intron -24 -0.46 AGCTGGGTCAGGCCCCCAGAAGTCACTATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 16 10 1 1 1 966 556 0.999957390487481 1 0.99997869524374 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0139383252729628 0.00577277777845697 0.144275291232477 0.00391587937202265 0.99014444847429 0.92588310994149 0.00985555152570988 0.07409558530225 0.0642400337765401 FALSE FALSE 0 -3.03 NA NA NA ABAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABAT NA NA NA ENSG00000183044 ENSE00003472248 intron_variant 0.138387 0.09492 0.00333 0.164513 0.744233731089127 0.0902864 0.374368506048295 FALSE 4.06217e-06 ENSE00001292057_004 ENSE00001292057 004 16 8857876 8858045 + 50 81 39 T A 8857905 667 30 AGCTGGGTCAGGCCCCCAGAAGTCACCATATGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764047 8764048 8764048 upstr_intron -21 -0.4 AGCTGGGTCAGGCCCCCAGAAGTCACCATATGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 15 10 0.997517227245287 1 0.998758613622644 305 1246 0.994192153976023 0.933365236835894 0.963778695405959 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0114555525182503 0.00577277777845697 0.13851005472102 -0.0627188837920835 0.99014444847429 0.92588310994149 0.00861416514835361 0.0378955854644684 0.0292814203161147 FALSE FALSE 0 -1.133 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA TTT T,A 8.236e-06 16:8764048 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant 0.668019 0.19321 0.03919 0.164513 0.789548038780646 0.0914088 0.374368506048295 FALSE 8.124e-06 ENSE00001292057_005 ENSE00001292057 005 16 8857876 8858045 + 50 81 39 C T 8857915 668 40 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGTCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764057 8764058 8764058 upstr_intron -11 -0.2 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGTCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 70 31 0.729031130673544 0.902768856985846 0.815899993829695 69 1756 0.954431525532272 0.99910645009326 0.976768987812766 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 -0.257030544053494 -0.0914583652356974 0.098749426277269 0.00302232946528258 0.99014444847429 0.92588310994149 -0.174244454644595 0.0508858778712758 0.225130332515871 FALSE FALSE 0 -0.146 NA NA NA ABAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:8764058 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant 0.446084 0.22584 0.08784 0.119485 0.5902732833991 0.107046 0.374368506048295 FALSE 2.03105e-05 ENSE00001292057_007 ENSE00001292057 007 16 8857876 8858045 + 50 81 39 C T 8857923 670 48 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGTAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764065 8764066 8764066 upstr_intron -3 -0.04 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGTAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 25 19 0.973351130567862 0.953328811539084 0.963339971053473 NA NA NA NA NA 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 -0.0127105441591752 -0.0408984106824588 NA NA 0.99014444847429 0.92588310994149 -0.026804477420817 NA NA NA FALSE 0.852 1.634 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs367740820 1 NA T:0.0002 T:0 GCA C,T 2.471e-05 16:8764066 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 splice_region_variant 0.961062 0.95401 0.78637 0.119485 0.577017299585806 0.37765 0.374368506048295 FALSE 1.21859e-05 ENSE00001292057_008 ENSE00001292057 008 16 8857876 8858045 + 50 81 39 A G 8857929 671 54 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCGTGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764071 8764072 8764072 exon 4 0.0493827160493827 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCGTGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 19 19 0.99905244605719 0.995583972580525 0.997318209318858 494 681 0.999689655745205 1 0.999844827872602 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0129907713301531 0.00135675035898231 0.144007556490202 0.00391587937202265 0.99014444847429 0.92588310994149 0.00717376084456772 0.0739617179311121 0.0667879570865444 FALSE FALSE 0.906 2.209 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs370414705 1 NA G:0.0002 G:0 CAT A,G 1.647e-05 16:8764072 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 0.094101 0.98116 0.90188 0.553676 0.851492850616476 0 0.374368506048295 FALSE 1.62473e-05 ENSE00001292057_009 ENSE00001292057 009 16 8857876 8858045 + 50 81 39 T C 8857932 672 57 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGCTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764074 8764075 8764075 exon 7 0.0864197530864197 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGCTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 313 543 0.999510057334752 1 0.999755028667376 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.143827958079749 0.00391587937202265 0.99014444847429 0.92588310994149 NA 0.0738719187258857 NA FALSE NA 1 5.371 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA GTT T,C 8.236e-06 16:8764075 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 0.530577 0.98357 0.96466 0.553676 0.323146775994161 0 0.374368506048295 FALSE 4.06177e-06 ENSE00001292057_010 ENSE00001292057 010 16 8857876 8858045 + 50 81 39 G A 8857935 673 60 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTATCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764077 8764078 8764078 exon 10 0.123456790123457 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTATCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 165 252 0.998137296693047 0.978706208348217 0.988421752520632 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.142455197438043 -0.0173779122797599 0.99014444847429 0.92588310994149 NA 0.0625386425791417 NA FALSE NA 0.99 0.332 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA TGT G,A 8.236e-06 16:8764078 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant -0.626621 0.95268 0.58145 0.553676 0.3693926829427 0 0.374368506048295 FALSE 1.62477e-05 ENSE00001292057_011 ENSE00001292057 011 16 8857876 8858045 + 50 81 39 C T 8857940 674 65 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAATAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764082 8764083 8764083 exon 15 0.185185185185185 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAATAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 14 26 0.999379087773174 1 0.999689543886587 80 285 1 1 1 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0133174130461363 0.00577277777845697 0.144317900744997 0.00391587937202265 0.99014444847429 0.92588310994149 0.00954509541229664 0.0741168900585097 0.0645717946462131 FALSE FALSE 1 0.804 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA ACA C,T 4.118e-05 16:8764083 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 synonymous_variant 1.096506 0.98671 0.86542 0.553676 0.591337442964243 0 0.374368506048295 FALSE 2.0309e-05 ENSE00001292057_012 ENSE00001292057 012 16 8857876 8858045 + 50 81 39 C A 8857944 675 69 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGAACCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764086 8764087 8764087 exon 19 0.234567901234568 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGAACCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 55 23 0.877669290174205 0.89583146490345 0.886750377538827 1908 836 0.984977376760649 0.998570334029493 0.991773855395071 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 -0.108392384552833 -0.0983957573180934 0.129295277505646 0.00248621340151534 0.99014444847429 0.92588310994149 -0.103394070935463 0.0658907454535805 0.169284816389043 FALSE FALSE 1 6.876 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA ACC C,A 8.236e-06 16:8764087 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 6.093706 0.99304 0.9846 0.553676 0.996810280763322 0 0.374368506048295 FALSE 4.0618e-06 ENSE00001292057_013 ENSE00001292057 013 16 8857876 8858045 + 50 81 39 C T 8857946 676 71 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCTGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764088 8764089 8764089 exon 21 0.259259259259259 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCTGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 45 92 0.97000798513835 0.97628633811443 0.97314716162639 132 56 0.997669965291695 0.995815406009726 0.996742685650711 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 -0.0160536895886869 -0.017940884107113 0.141987866036692 -0.000268714618251287 0.99014444847429 0.92588310994149 -0.0169972868479 0.0708595757092205 0.0878568625571204 FALSE FALSE 0.019 -1.012 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA CCG C,T 6.589e-05 16:8764089 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 synonymous_variant 1.821568 0.9082 0.03142 0.553676 0.655515802380839 0 0.374368506048295 FALSE 6.09345e-05 ENSE00001292057_014 ENSE00001292057 014 16 8857876 8858045 + 50 81 39 C T 8857949 677 74 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCTCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764091 8764092 8764092 exon 24 0.296296296296296 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCTCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 15 18 0.997109377197243 1 0.998554688598622 NA NA NA NA NA 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0110477024702058 0.00577277777845697 NA NA 0.99014444847429 0.92588310994149 0.00841024012433139 NA NA NA FALSE 0.333 -0.532 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA CCC C,T 8.236e-06 16:8764092 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 synonymous_variant 1.973441 0.96733 0.25955 0.553676 0.474346833425041 0 0.374368506048295 FALSE 4.06213e-06 ENSE00001292057_016 ENSE00001292057 016 16 8857876 8858045 + 50 81 39 G T 8857954 679 79 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGTAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764096 8764097 8764097 exon 29 0.358024691358025 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGTAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 378 2054 0.977951568149367 0.971427500085742 0.974689534117555 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.122269468894364 -0.0246566205422349 0.99014444847429 0.92588310994149 NA 0.0488064241760645 NA FALSE NA 1 8.69 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA GGA G,T 8.236e-06 16:8764097 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 5.692947 0.99313 0.98978 0.553676 0.997863459598673 0 0.374368506048295 FALSE 4.06246e-06 ENSE00001292057_017 ENSE00001292057 017 16 8857876 8858045 + 50 81 39 C T 8857966 680 91 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCTGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764108 8764109 8764109 exon -41 0.506172839506173 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCTGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 457 587 0.999664516543263 1 0.999832258271632 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.14398241728826 0.00391587937202265 0.99014444847429 0.92588310994149 NA 0.0739491483301415 NA FALSE NA 1 6.876 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA CCG C,T 8.236e-06 16:8764109 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 6.099266 0.99266 0.9809 0.553676 0.998690282941848 0 0.374368506048295 FALSE 4.06289e-06 ENSE00001292057_018 ENSE00001292057 018 16 8857876 8858045 + 50 81 39 G A 8857967 681 92 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCAGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764109 8764110 8764110 exon -40 0.518518518518518 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCAGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 29 32 1 1 1 453 2176 0.978123907728862 0.998092442215728 0.988108174972295 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0139383252729628 0.00577277777845697 0.122441808473859 0.00200832158775044 0.99014444847429 0.92588310994149 0.00985555152570988 0.0622250650308046 0.0523695135050947 FALSE FALSE 0 -2.896 rs149959823 downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs149959823 1 NA A:0 A:0.0001 CGG G,A 4.942e-05 16:8764110 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 synonymous_variant 1.362283 0.13028 0.01574 0.553676 0.750104008978391 0 0.374368506048295 FALSE 5.28249e-05 ENSE00001292057_019 ENSE00001292057 019 16 8857876 8858045 + 50 81 39 G C 8857977 682 102 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTCTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764119 8764120 8764120 exon -30 0.641975308641975 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTCTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 1565 273 0.949962789903262 1 0.974981394951631 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.0942806906482586 0.00391587937202265 0.99014444847429 0.92588310994149 NA 0.0490982850101406 NA FALSE NA 0.722 1.123 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA TGT G,C 8.236e-06 16:8764120 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 2.476388 0.9564 0.64421 0.553676 0.990400366022908 0 0.374368506048295 FALSE 4.06312e-06 ENSE00001292057_020 ENSE00001292057 020 16 8857876 8858045 + 50 81 39 A G 8857983 683 108 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGGAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764125 8764126 8764126 exon -24 0.716049382716049 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGGAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 574 230 0.998309226202464 0.948910455583163 0.973609840892814 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.142627126947461 -0.047173665044814 0.99014444847429 0.92588310994149 NA 0.0477267309513233 NA FALSE NA 1 6.421 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA GAA A,G 8.236e-06 16:8764126 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 2.89971 0.99107 0.98019 0.553676 0.996942137233833 0 0.374368506048295 FALSE 4.06372e-06 ENSE00001292057_021 ENSE00001292057 021 16 8857876 8858045 + 50 81 39 A C 8857984 684 109 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGACGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764126 8764127 8764127 exon -23 0.728395061728395 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGACGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 776 325 0.999734534664375 1 0.999867267332188 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.144052435409372 0.00391587937202265 0.99014444847429 0.92588310994149 NA 0.0739841573906973 NA FALSE NA 1 3.684 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA AAG A,C 8.236e-06 16:8764127 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 2.251517 0.97976 0.9269 0.553676 0.994545601677454 0 0.374368506048295 FALSE 4.06372e-06 ENSE00001292057_022 ENSE00001292057 022 16 8857876 8858045 + 50 81 39 G T 8857985 685 110 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAATCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764127 8764128 8764128 exon -22 0.740740740740741 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAATCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 14 35 0.997821537709982 0.998705782408988 0.998263660059485 1153 1909 0.999509320980821 0.998510994271898 0.999010157626359 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0117598629829444 0.00447856018744452 0.143827221725818 0.00242687364392025 0.99014444847429 0.92588310994149 0.00811921158519446 0.0731270476848691 0.0650078360996746 FALSE FALSE 1 1.672 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA AGC G,T 8.236e-06 16:8764128 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 2.658893 0.97878 0.88737 0.553676 0.996977224314853 0 0.374368506048295 FALSE 8.12889e-06 ENSE00001292057_023 ENSE00001292057 023 16 8857876 8858045 + 50 81 39 G A 8857990 686 115 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCAGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764132 8764133 8764133 exon -17 0.802469135802469 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCAGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 29 14 1 0.997242993318835 0.998621496659418 NA NA NA NA NA 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0139383252729628 0.00301577109729234 NA NA 0.99014444847429 0.92588310994149 0.00847704818512757 NA NA NA FALSE 0.006 0.209 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA CGG G,A 4.942e-05 16:8764133 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 1.743079 0.90178 0.09409 0.553676 0.953086060857499 0 0.374368506048295 FALSE 5.69115e-05 ENSE00001292057_024 ENSE00001292057 024 16 8857876 8858045 + 50 81 39 G T 8858000 687 125 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTTCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764142 8764143 8764143 exon -7 0.925925925925926 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTTCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 949 518 0.996941393731595 0.998591761417136 0.997766577574366 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.141259294476592 0.00250764078915877 0.99014444847429 0.92588310994149 NA 0.0718834676328753 NA FALSE NA 1 2.65 NA NA NA ABAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:8764143 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 2.473533 0.97776 0.89169 0.638212 0.998405234097955 0 0.374368506048295 FALSE 4.06696e-06 ENSE00001292057_026 ENSE00001292057 026 16 8857876 8858045 + 50 81 39 C T 8858005 689 130 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTTGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764147 8764148 8764148 exon -2 0.987654320987654 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTTGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 1013 1435 0.997224481298183 0.9988747361279 0.998049608713042 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.14154238204318 0.00279061549992277 0.99014444847429 0.92588310994149 NA 0.0721664987715515 NA FALSE NA 1 6.876 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs374113959 1 NA T:0 T:0.0001 TCG C,T 8.236e-06 16:8764148 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 missense_variant 4.211804 0.99276 0.98096 0.638212 0.997636034886786 0 0.374368506048295 FALSE 8.13597e-06 ENSE00001292057_027 ENSE00001292057 027 16 8857876 8858045 + 50 81 39 G T 8858006 690 131 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCTGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764148 8764149 8764149 exon -1 1 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCTGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 13 20 1 1 1 NA NA NA NA NA 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0139383252729628 0.00577277777845697 NA NA 0.99014444847429 0.92588310994149 0.00985555152570988 NA NA NA FALSE 1 0.687 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs376531387 1 NA T:0 T:0.0001 CGG G,T 6.589e-05 16:8764149 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 splice_region_variant 0.998389 0.96331 0.8489 0.638212 0.55025928061486 0 0.374368506048295 FALSE 6.51185e-05 ENSE00001292057_028 ENSE00001292057 028 16 8857876 8858045 + 50 81 39 T A 8858012 691 137 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGATCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764154 8764155 8764155 downstr_intron 6 1.15789473684211 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGATCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 1283 565 0.996759258703012 1 0.998379629351506 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.141077159448009 0.00391587937202265 0.99014444847429 0.92588310994149 NA 0.0724965194100159 NA FALSE NA 0.996 2.748 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs368568785 1 NA A:0 A:0.0001 GTT T,A 1.647e-05 16:8764155 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 splice_region_variant 1.412976 0.98352 0.79037 0.119485 0.894959446817074 0.693574 0.374368506048295 FALSE 8.13868e-06 ENSE00001292057_029 ENSE00001292057 029 16 8857876 8858045 + 50 81 39 C G 8858014 692 139 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTGTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764156 8764157 8764157 downstr_intron 8 1.21052631578947 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTGTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 10 18 1 0.999703204125215 0.999851602062607 NA NA NA NA NA 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0139383252729628 0.00547598190367182 NA NA 0.99014444847429 0.92588310994149 0.00970715358831731 NA NA NA FALSE 0 -1.86 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA TCT C,G 8.236e-06 16:8764157 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 splice_region_variant 0.480046 0.26025 0.01185 0.119485 0.583608201439369 0.0464599 0.374368506048295 FALSE 4.07014e-06 ENSE00001292057_030 ENSE00001292057 030 16 8857876 8858045 + 50 81 39 G T 8858017 693 142 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGTAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764159 8764160 8764160 downstr_intron 11 1.28947368421053 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGTAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 1681 330 0.996697527062018 1 0.998348763531009 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.141015427807015 0.00391587937202265 0.99014444847429 0.92588310994149 NA 0.0724656535895187 NA FALSE NA 0.021 0.02 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA GGA G,T 1.647e-05 16:8764160 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant -0.183522 0.29106 0.11641 0.119485 0.429136048678927 0.0464599 0.374368506048295 FALSE 8.14279e-06 ENSE00001292057_031 ENSE00001292057 031 16 8857876 8858045 + 50 81 39 G A 8858019 694 144 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAAAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764161 8764162 8764162 downstr_intron 13 1.34210526315789 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAAAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 10 13 1 1 1 107 337 0.99856473755321 0.999530415919406 0.999047576736308 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0139383252729628 0.00577277777845697 0.142882638298207 0.00344629529142904 0.99014444847429 0.92588310994149 0.00985555152570988 0.0731644667948181 0.0633089152691083 FALSE FALSE 0.004 -0.025 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs200598762 1 NA A:0 A:0.0001 AGA G,A 3.295e-05 16:8764162 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant 0.156664 0.29105 0.02783 0.119485 0.424312731539147 0.0398021 0.374368506048295 FALSE 1.62865e-05 ENSE00001292057_032 ENSE00001292057 032 16 8857876 8858045 + 50 81 39 C T 8858023 695 148 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGTAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764165 8764166 8764166 downstr_intron 17 1.44736842105263 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGTAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 35 20 0.994191266094137 1 0.997095633047068 141 316 0.998911404064951 1 0.999455702032476 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.00812959136709979 0.00577277777845697 0.143229304809948 0.00391587937202265 0.99014444847429 0.92588310994149 0.00695118457277838 0.0735725920909855 0.0666214075182071 FALSE FALSE 0 0.153 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:8764166 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant 0.113175 0.16512 0.00948 0.119485 0.379165679524648 0.0476589 0.374368506048295 FALSE 4.07279e-05 ENSE00001292057_033 ENSE00001292057 033 16 8857876 8858045 + 50 81 39 C A 8858023 696 148 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGAAATCCCATTGTCTTCAGACGTG 8764018 8764188 8764165 8764166 8764166 downstr_intron 17 1.44736842105263 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGAAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant NA NA NA NA NA 819 165 0.999625579869085 1 0.999812789934542 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA 0.143943480614082 0.00391587937202265 0.99014444847429 0.92588310994149 NA 0.0739296799930521 NA FALSE NA 0 0.153 NA NA NA ABAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABAT NA NA NA ENSG00000183044 ENSE00003472248 intron_variant 0.195935 0.22568 0.0163 0.119485 0.363954086225792 0.0476589 0.374368506048295 FALSE 1.62912e-05 ENSE00001292057_034 ENSE00001292057 034 16 8857876 8858045 + 50 81 39 A G 8858030 697 155 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCGTTGTCTTCAGACGTG 8764018 8764188 8764172 8764173 8764173 downstr_intron 24 1.63157894736842 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCGTTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 16 18 0.93284816250039 0.998995663353308 0.965921912926849 NA NA NA NA NA 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 -0.0532135122266474 0.00476844113176544 NA NA 0.99014444847429 0.92588310994149 -0.024222535547441 NA NA NA FALSE 0 -1.644 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs201521805 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 6.589e-05 16:8764173 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant -0.332198 0.05318 0.00374 0.119485 0.361035116524803 0.04841 0.374368506048295 FALSE 7.33383e-05 ENSE00001292057_035 ENSE00001292057 035 16 8857876 8858045 + 50 81 39 G T 8858033 698 158 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTTTCTTCAGACGTG 8764018 8764188 8764175 8764176 8764176 downstr_intron 27 1.71052631578947 AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTTTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG mutant 10 15 1 1 1 768 383 0.996812788821789 0.999900573371203 0.998356681096496 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 0.0139383252729628 0.00577277777845697 0.141130689566786 0.00381645274322595 0.99014444847429 0.92588310994149 0.00985555152570988 0.0724735711550058 0.0626180196292959 FALSE FALSE 0 0.378 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA TGT G,T 2.471e-05 16:8764176 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003472248 intron_variant -0.153845 0.14967 0.01276 0.119485 0.595009726620145 0.0476589 0.374368506048295 FALSE 2.03927e-05 ENSE00001292057_BRK ENSE00001292057 BRK 16 8857876 8858045 + 50 81 39 A,G; T,T NA NA NA AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCTTAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGCCGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG 8764018 8764188 NA NA NA NA NA NA AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCTTAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGCCGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG AGCTGGGTCAGGCCCCCAGAAGTCACCATTTGTCTCTTGCCCTTTTGCAGAGCATGTTTGTCAACAGACCCGCCCTCGGAATCCTGCCTCCGGAGAACTTTGTGGAGAAGCTCCGGCAGTCCTTGCTCTCGGTGAGTTCTGGAGAAGCAATCCCATTGTCTTCAGACGTG control NA NA NA NA NA 834 1240 0 0.0834080234247831 0.0417040117123916 0.986061674727037 0.994227222221543 0.855682099255003 0.996084120627977 NA NA -0.855682099255003 -0.912676097203194 0.99014444847429 0.92588310994149 NA -0.884179098229099 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABAT NA NA NA ENSG00000183044 ENSE00003472248 NA NA NA NA NA NA NA 0.374368506048295 FALSE NA ENSE00001292222_000 ENSE00001292222 000 22 32992612 32992781 - 48 63 59 NA NA NA NA NA GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGTGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 NA NA NA NA NA NA CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC natural 49 61 0.988207702066722 0.990980156075232 0.989593929070977 2965 4690 0.855975530912514 0.936581753072114 0.896278641992314 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 0 0 0 0 0.989593929070977 0.896278641992314 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYN3 NA NA NA ENSG00000185666 ENSE00001292222 NA NA NA NA NA NA NA 0.577812323529965 FALSE NA ENSE00001292222_001 ENSE00001292222 001 22 32992612 32992781 - 48 63 59 T G 32992633 647 149 GGAATCTCTGGGTGTGTCCACGGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGTGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596646 32596647 32596647 downstr_intron 27 1.57446808510638 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACCGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 146 751 0.974903058761143 0.999949309244426 0.987426184002784 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.118927527848629 0.0633675561723114 0.989593929070977 0.896278641992314 NA 0.0911475420104702 NA FALSE NA 0 -0.489 NA NA NA SYN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:32596647 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 intron_variant 0.323469 0.26059 0.11592 0.078448 0.703597953230463 0.0555064 0.577812323529965 FALSE 0.00385105 ENSE00001292222_003 ENSE00001292222 003 22 32992612 32992781 - 48 63 59 C T 32992674 649 108 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGTGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGTGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596687 32596688 32596688 exon -15 0.777777777777778 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACACTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 821 292 0.986978729029497 0.989445334159746 0.988212031594621 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.131003198116983 0.0528635810876316 0.989593929070977 0.896278641992314 NA 0.0919333896023071 NA FALSE NA 0.993 2.546 rs139005191 missense_variant MODERATE SYN3 HGNC 11496 ENST00000358763 7/14 rs139005191 1 deleterious(0.01) unknown(0) NA T:0 T:0.0005 GCG C,T 0.0003047 22:32596688 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 missense_variant 5.777047 0.9129 0.65987 0.706298 0.995588335169966 0 0.577812323529965 FALSE 0.000316993 ENSE00001292222_005 ENSE00001292222 005 22 32992612 32992781 - 48 63 59 C T 32992699 651 83 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACTACCGGGAAGTGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596712 32596713 32596713 exon 24 0.380952380952381 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTAGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 34 991 1 0.999377653395067 0.999688826697534 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.144024469087486 0.0627959003229531 0.989593929070977 0.896278641992314 NA 0.10341018470522 NA FALSE NA 0.996 0.144 . synonymous_variant LOW SYN3 HGNC 11496 ENST00000358763 7/14 1 NA CCA C,T 8.236e-06 22:32596713 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 synonymous_variant 1.137639 0.90312 0.55764 0.706298 0.710473372439493 0 0.577812323529965 FALSE 2.84407e-05 ENSE00001292222_006 ENSE00001292222 006 22 32992612 32992781 - 48 63 59 C T 32992702 652 80 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACTGGGAAGTGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596715 32596716 32596716 exon 21 0.333333333333333 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCAGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 663 1493 0.860036512258016 0.991118333205369 0.925577422731693 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.0040609813455017 0.0545365801332552 0.989593929070977 0.896278641992314 NA 0.0292987807393785 NA FALSE NA 0.003 -2.24 . synonymous_variant LOW SYN3 HGNC 11496 ENST00000358763 7/14 rs373581311 1 NA T:0.0002 T:0 CCG C,T 4.118e-05 22:32596716 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 synonymous_variant 1.288754 0.13707 0.02662 0.706298 0.79254117156641 0 0.577812323529965 FALSE 2.03193e-05 ENSE00001292222_007 ENSE00001292222 007 22 32992612 32992781 - 48 63 59 G A 32992703 653 79 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCAGGAAGTGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596716 32596717 32596717 exon 20 0.317460317460317 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCTGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 166 113 1 0.998298089407282 0.999149044703641 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.144024469087486 0.061716336335168 0.989593929070977 0.896278641992314 NA 0.102870402711327 NA FALSE NA 1 5.093 . missense_variant MODERATE SYN3 HGNC 11496 ENST00000358763 7/14 1 deleterious(0) unknown(0) NA CGG G,A 8.236e-06 22:32596717 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 missense_variant 4.965911 0.93309 0.84549 0.706298 0.992025931412989 0 0.577812323529965 FALSE 8.12935e-06 ENSE00001292222_009 ENSE00001292222 009 22 32992612 32992781 - 48 63 59 T G 32992709 655 73 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGGGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596722 32596723 32596723 exon 14 0.222222222222222 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACCCTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 35 2500 1 0.968740993807123 0.984370496903561 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.144024469087486 0.0321592407350085 0.989593929070977 0.896278641992314 NA 0.0880918549112473 NA FALSE NA 0.947 2.652 . missense_variant MODERATE SYN3 HGNC 11496 ENST00000358763 7/14 rs556300734 1 tolerated(0.15) unknown(0) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GTG T,G 4.118e-05 22:32596723 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 missense_variant 1.532929 0.27968 0.3845 0.706298 0.922513454662821 0 0.577812323529965 FALSE 8.94556e-05 ENSE00001292222_010 ENSE00001292222 010 22 32992612 32992781 - 48 63 59 A G 32992727 656 55 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGTGTGGGGCTGTGACCTGAGAGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596740 32596741 32596741 upstr_intron -5 -0.0677966101694915 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTCTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 502 36 0.960656057944256 1 0.980328028972128 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.104680527031742 0.0634182469278858 0.989593929070977 0.896278641992314 NA 0.0840493869798139 NA FALSE NA 1 4.817 . splice_region_variant&intron_variant LOW SYN3 HGNC 11496 ENST00000358763 6/13 1 NA AAA A,G 8.236e-06 22:32596741 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 splice_region_variant 1.973057 0.93243 0.84338 0.053691 0.941609420418904 0.84063 0.577812323529965 FALSE 2.03502e-05 ENSE00001292222_011 ENSE00001292222 011 22 32992612 32992781 - 48 63 59 A G 32992728 657 54 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGTGTGGGGCTGTGACCTGAAGGAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596741 32596742 32596742 upstr_intron -6 -0.0847457627118644 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCCTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 406 46 1 0.966346678221036 0.983173339110518 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.144024469087486 0.0297649251489223 0.989593929070977 0.896278641992314 NA 0.0868946971182042 NA FALSE NA 1 3.262 . splice_region_variant&intron_variant LOW SYN3 HGNC 11496 ENST00000358763 6/13 1 NA AAG A,G 8.236e-06 22:32596742 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 splice_region_variant 1.788549 0.93264 0.78744 0.053691 0.93852305689159 0.839962 0.577812323529965 FALSE NA ENSE00001292222_012 ENSE00001292222 012 22 32992612 32992781 - 48 63 59 G A 32992729 658 53 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGTGTGGGGCTGTGACCTGAAAAAGACAAGAAGAAGTCACTCTTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596742 32596743 32596743 upstr_intron -7 -0.101694915254237 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTTTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 107 85 1 0.999551012973187 0.999775506486593 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.144024469087486 0.0629692599010726 0.989593929070977 0.896278641992314 NA 0.103496864494279 NA FALSE NA 1 1.828 rs191241866 splice_region_variant&intron_variant LOW SYN3 HGNC 11496 ENST00000358763 6/13 rs191241866 1 A:0.0026 A:0 A:0 NA A:0.0129 A:0 A:0 AGA G,A 0.0007413 22:32596743 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 splice_region_variant 2.101053 0.91406 0.69428 0.053691 0.841593827741043 0.842382 0.577812323529965 FALSE 0.000757101 ENSE00001292222_014 ENSE00001292222 014 22 32992612 32992781 - 48 63 59 T G 32992749 660 33 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGTGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCGTAACATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596762 32596763 32596763 upstr_intron -27 -0.440677966101695 CAGAGCCTTGGTGGCAATGCTCTGAGATGTTACGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 527 82 0.986345765868926 0.999534538628577 0.992940152248751 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.130370234956412 0.0629527855564627 0.989593929070977 0.896278641992314 NA 0.0966615102564372 NA FALSE NA 0.359 1.136 . intron_variant MODIFIER SYN3 HGNC 11496 ENST00000358763 6/13 1 NA CTT T,G 1.647e-05 22:32596763 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 intron_variant 1.258371 0.15681 0.11776 0.053691 0.801034371357926 0.213562 0.577812323529965 FALSE 1.63087e-05 ENSE00001292222_015 ENSE00001292222 015 22 32992612 32992781 - 48 63 59 C G 32992753 661 29 GGAATCTCTGGGTGTGTCCACTGTGAGTGGAAGGGCTGTTTCTCATACCTTTCCCATTCCAGCGTGGGCATGTCCCAGCTTGACTACCACCGGGAAGTGTGGGGCTGTGACCTGAAAGAGACAAGAAGAAGTCACTCTTAAGATCTCAGAGCATTGCCACCAAGGCTCTG 32596625 32596795 32596766 32596767 32596767 upstr_intron -31 -0.508474576271186 CAGAGCCTTGGTGGCAATGCTCTGAGATCTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC mutant NA NA NA NA NA 425 533 0.890434591012668 0.99992856714439 0.945181579078529 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 NA NA 0.0344590601001543 0.063346814072276 0.989593929070977 0.896278641992314 NA 0.0489029370862152 NA FALSE NA 0.037 0.05 . intron_variant MODIFIER SYN3 HGNC 11496 ENST00000358763 6/13 rs369886496 1 NA G:0.0002 G:0 ACA C,G 1.647e-05 22:32596767 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00001292222 intron_variant 1.181822 0.2885 0.19082 0.053691 0.750454123325727 0.213562 0.577812323529965 FALSE 1.63842e-05 ENSE00001292222_BRK ENSE00001292222 BRK 22 32992612 32992781 - 48 63 59 A,G; T,T NA NA NA CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCTTGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGCCATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC 32596625 32596795 NA NA NA NA NA NA CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCTTGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGCCATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC CAGAGCCTTGGTGGCAATGCTCTGAGATGTTAAGAGTGACTTCTTCTTGTCTCTTTCAGGTCACAGCCCCACACTTCCCGGTGGTAGTCAAGCTGGGACATGCCCACGCTGGAATGGGAAAGGTATGAGAAACAGCCCTTCCACTCACAGTGGACACACCCAGAGATTCC control 531 301 0 0 0 975 499 0.00309464052035843 0.0234095399651312 0.0132520902427448 0.988207702066722 0.990980156075232 0.855975530912514 0.936581753072114 -0.988207702066722 -0.990980156075232 -0.852880890392155 -0.913172213106983 0.989593929070977 0.896278641992314 -0.989593929070977 -0.883026551749569 0.106567377321408 TRUE TRUE NA NA NA NA NA SYN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYN3 NA NA NA ENSG00000185666 ENSE00001292222 NA NA NA NA NA NA NA 0.577812323529965 FALSE NA ENSE00001292661_000 ENSE00001292661 000 2 1312222 1312391 + 44 93 33 NA NA NA NA NA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA 1308449 1308619 NA NA NA NA NA NA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA natural 14 27 0.99682643064493 0.988972648576139 0.992899539610535 2152 2768 0.974973165303515 0.942159998227291 0.958566581765403 0.99682643064493 0.988972648576139 0.974973165303515 0.942159998227291 0 0 0 0 0.992899539610535 0.958566581765403 0 0 0 FALSE FALSE NA NA NA NA NA SNTG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNTG2 NA NA NA ENSG00000172554 ENSE00003591850 NA NA NA NA NA NA NA 9.17608832343845e-07 FALSE NA ENSE00001292661_001 ENSE00001292661 001 2 1312222 1312391 + 44 93 33 T G 1312239 50 18 GCATTATTAAAGAATGTGTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA 1308449 1308619 1308466 1308467 1308467 upstr_intron -27 -0.590909090909091 GCATTATTAAAGAATGTGTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA mutant NA NA NA NA NA 3385 20 0.996958564337757 0.8 0.898479282168879 0.99682643064493 0.988972648576139 0.974973165303515 0.942159998227291 NA NA 0.021985399034242 -0.142159998227291 0.992899539610535 0.958566581765403 NA -0.0600872995965244 NA FALSE NA 0.016 0.285 . intron_variant MODIFIER SNTG2 HGNC 13741 ENST00000308624 14/16 1 NA TTT T,G 4.126e-05 2:1308467 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00003591850 intron_variant 0.561034 0.51645 0.10855 0.070013 0.704441268825309 0.0632177 9.17608832343845e-07 FALSE 6.66604e-06 ENSE00001292661_002 ENSE00001292661 002 2 1312222 1312391 + 44 93 33 C T 1312268 51 47 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCTAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA 1308449 1308619 1308495 1308496 1308496 exon 3 0.032258064516129 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCTAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA mutant NA NA NA NA NA 458 19 0.998553390187336 1 0.999276695093668 0.99682643064493 0.988972648576139 0.974973165303515 0.942159998227291 NA NA 0.0235802248838213 0.0578400017727091 0.992899539610535 0.958566581765403 NA 0.0407101133282652 NA FALSE NA 0.984 -0.188 . splice_region_variant&synonymous_variant LOW SNTG2 HGNC 13741 ENST00000308624 15/17 1 NA CCA C,T 4.095e-05 2:1308496 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00003591850 splice_region_variant 0.327535 0.95084 0.3789 0.487112 0.711327501161312 0 9.17608832343845e-07 FALSE 2.65322e-05 ENSE00001292661_004 ENSE00001292661 004 2 1312222 1312391 + 44 93 33 A G 1312299 53 78 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGGTGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA 1308449 1308619 1308526 1308527 1308527 exon 34 0.365591397849462 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGGTGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA mutant NA NA NA NA NA 434 41 0.997682482062078 0.948840442385161 0.973261462223619 0.99682643064493 0.988972648576139 0.974973165303515 0.942159998227291 NA NA 0.0227093167585631 0.00668044415786984 0.992899539610535 0.958566581765403 NA 0.0146948804582165 NA FALSE NA 0 -0.201 rs192032454 missense_variant MODERATE SNTG2 HGNC 13741 ENST00000308624 15/17 rs192032454 1 tolerated(0.97) benign(0) G:0.0010 G:0 G:0 NA G:0.005 G:0 G:0 GAT A,G 0.0001213 2:1308527 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00003591850 missense_variant -2.998305 0.13243 0.01046 0.487112 0.42442338260885 0 9.17608832343845e-07 FALSE 0.000231258 ENSE00001292661_006 ENSE00001292661 006 2 1312222 1312391 + 44 93 33 C T 1312324 55 103 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGTGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA 1308449 1308619 1308551 1308552 1308552 exon -35 0.634408602150538 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGTGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA mutant NA NA NA NA NA 1203 199 0.998115885597589 0.999204431936001 0.998660158766795 0.99682643064493 0.988972648576139 0.974973165303515 0.942159998227291 NA NA 0.0231427202940742 0.0570444337087096 0.992899539610535 0.958566581765403 NA 0.0400935770013919 NA FALSE NA 0.964 1.719 . missense_variant MODERATE SNTG2 HGNC 13741 ENST00000308624 15/17 rs576647191&COSM3719571 1 deleterious(0.03) benign(0.15) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCG C,T 8.089e-05 2:1308552 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00003591850 missense_variant 2.611244 0.97267 0.68905 0.713056 0.983213931875228 0 9.17608832343845e-07 FALSE 4.62522e-05 ENSE00001292661_007 ENSE00001292661 007 2 1312222 1312391 + 44 93 33 G A 1312325 56 104 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCATTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA 1308449 1308619 1308552 1308553 1308553 exon -34 0.645161290322581 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCATTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA mutant NA NA NA NA NA 150 277 0.992770028664327 1 0.996385014332164 0.99682643064493 0.988972648576139 0.974973165303515 0.942159998227291 NA NA 0.0177968633608124 0.0578400017727091 0.992899539610535 0.958566581765403 NA 0.0378184325667608 NA FALSE NA 0 -1.88 rs147649890 synonymous_variant LOW SNTG2 HGNC 13741 ENST00000308624 15/17 rs147649890&COSM1399337 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0.0007 A:0 CGT G,A 8.075e-05 2:1308553 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00003591850 synonymous_variant -0.026244 0.10427 0.00944 0.713056 0.694693652686083 0 9.17608832343845e-07 FALSE 7.26802e-05 ENSE00001292661_010 ENSE00001292661 010 2 1312222 1312391 + 44 93 33 C G 1312367 59 146 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGGCAAGCAGGCATCCATGCCGCCCCA 1308449 1308619 1308594 1308595 1308595 downstr_intron 9 1.28125 GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGGCAAGCAGGCATCCATGCCGCCCCA GCATTATTAAAGAATGTTTTCTCAAAATTGATACTTTTTTCTAGTCCAGAACATACATGTGCAGCTGGCAAGGAGAGATGCTGTGTTTCACGGTGGATTTCGCGTTGGGATTTACCTGTTTTGAGAGTAAGACCAAGGTAAGAGGCCAAGCAGGCATCCATGCCGCCCCA mutant NA NA NA NA NA 77 15 1 0.95 0.975 0.99682643064493 0.988972648576139 0.974973165303515 0.942159998227291 NA NA 0.0250268346964851 0.00784000177270916 0.992899539610535 0.958566581765403 NA 0.0164334182345972 NA FALSE NA 0 -0.464 . intron_variant MODIFIER SNTG2 HGNC 13741 ENST00000308624 15/16 1 NA GCC C,G 4.017e-05 2:1308595 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00003591850 intron_variant -0.004808 0.13338 0.00638 0.126639 0.467026807664371 0.0667028 9.17608832343845e-07 FALSE 1.32214e-05 ENSE00001292711_000 ENSE00001292711 000 10 87675890 87676059 - 53 54 63 NA NA NA NA NA TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 NA NA NA NA NA NA TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT natural 47 107 0.924427215170061 0.863379144737759 0.89390317995391 1399 2523 0.9576618210269 0.909843231944377 0.933752526485638 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 0 0 0 0 0.89390317995391 0.933752526485638 0 0 0 FALSE FALSE NA NA NA NA NA GRID1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRID1 NA NA NA ENSG00000182771 ENSE00001292711 NA NA NA NA NA NA NA 0.950796125986905 TRUE NA ENSE00001292711_002 ENSE00001292711 002 10 87675890 87676059 - 53 54 63 C T 87675913 1838 147 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGACCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916155 85916156 85916156 downstr_intron 30 1.57692307692308 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGACCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 567 1020 0.99464640638346 0.994376651066515 0.994511528724987 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.03698458535656 0.084533419122138 0.89390317995391 0.933752526485638 NA 0.060759002239349 NA FALSE NA 0.001 0.361 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 5/14 1 NA GCC C,T 1.647e-05 10:85916156 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant 0.460534 0.30767 0.08074 0.074388 0.675126006137816 0.0436289 0.950796125986905 TRUE 8.16653e-06 ENSE00001292711_004 ENSE00001292711 004 10 87675890 87676059 - 53 54 63 G A 87675915 1840 145 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCATGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916157 85916158 85916158 downstr_intron 28 1.53846153846154 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCATGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 102 1226 1 0.999968952638436 0.999984476319218 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0423381789731004 0.0901257206940593 0.89390317995391 0.933752526485638 NA 0.0662319498335799 NA FALSE NA 0 -1.502 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 5/14 rs373086056 1 NA A:0.0005 A:0 CGT G,A 4.118e-05 10:85916158 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant -0.541638 0.07957 0.00258 0.074388 0.28068060698888 0.0436289 0.950796125986905 TRUE 2.85521e-05 ENSE00001292711_005 ENSE00001292711 005 10 87675890 87676059 - 53 54 63 T C 87675919 1841 141 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGGGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916161 85916162 85916162 downstr_intron 24 1.46153846153846 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGGGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 709 75 0.99935975762495 1 0.999679878812475 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0416979365980502 0.0901567680556232 0.89390317995391 0.933752526485638 NA 0.0659273523268367 NA FALSE NA 0 -0.108 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 5/14 1 NA CTC T,C 8.236e-06 10:85916162 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant -0.085454 0.08743 5e-04 0.074388 0.327428066425555 0.0436289 0.950796125986905 TRUE 4.07183e-06 ENSE00001292711_006 ENSE00001292711 006 10 87675890 87676059 - 53 54 63 C T 87675930 1842 130 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAAAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916172 85916173 85916173 downstr_intron 13 1.25 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAAAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 519 350 0.997331884306776 1 0.998665942153388 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0396700632798769 0.0901567680556232 0.89390317995391 0.933752526485638 NA 0.0649134156677501 NA FALSE NA 0.001 0.32 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 5/14 1 NA TCT C,T 8.236e-06 10:85916173 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant 0.155111 0.18263 0.02469 0.074388 0.3831354776534 0.116125 0.950796125986905 TRUE 8.13564e-06 ENSE00001292711_007 ENSE00001292711 007 10 87675890 87676059 - 53 54 63 C T 87675936 1843 124 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGACTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916178 85916179 85916179 downstr_intron 7 1.13461538461538 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGACTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 269 345 1 0.998215283056157 0.999107641528079 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0423381789731004 0.0883720511117805 0.89390317995391 0.933752526485638 NA 0.0653551150424405 NA FALSE NA 0.53 0.54 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GRID1 HGNC 4575 ENST00000464741 5/14 1 NA GCC C,T 8.236e-06 10:85916179 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 splice_region_variant 0.797151 0.21903 0.14497 0.074388 0.610394440638574 0.164134 0.950796125986905 TRUE 1.22013e-05 ENSE00001292711_008 ENSE00001292711 008 10 87675890 87676059 - 53 54 63 G A 87675967 1844 93 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGATAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916209 85916210 85916210 exon -25 0.555555555555556 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGATAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 435 109 1 1 1 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0423381789731004 0.0901567680556232 0.89390317995391 0.933752526485638 NA 0.0662474735143618 NA FALSE NA 1 2.702 . synonymous_variant&NMD_transcript_variant LOW GRID1 HGNC 4575 ENST00000464741 5/15 1 NA TGT G,A 8.236e-06 10:85916210 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 synonymous_variant 0.803714 0.90259 0.67725 0.487112 0.614919383819552 0 0.950796125986905 TRUE 4.06534e-06 ENSE00001292711_009 ENSE00001292711 009 10 87675890 87676059 - 53 54 63 G A 87675981 1845 79 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACTTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916223 85916224 85916224 exon 16 0.296296296296296 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACTTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 666 223 0.999007112877764 0.999290134025785 0.999148623451774 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0413452918508641 0.0894469020814082 0.89390317995391 0.933752526485638 NA 0.0653960969661361 NA FALSE NA 1 2.833 . synonymous_variant&NMD_transcript_variant LOW GRID1 HGNC 4575 ENST00000464741 5/15 1 NA AGG G,A 8.236e-06 10:85916224 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 synonymous_variant 1.035685 0.90044 0.70921 0.516011 0.732801481788469 0 0.950796125986905 TRUE 4.06577e-06 ENSE00001292711_010 ENSE00001292711 010 10 87675890 87676059 - 53 54 63 G C 87675982 1846 78 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAAGCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916224 85916225 85916225 exon 15 0.277777777777778 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAAGCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 22 93 1 1 1 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0423381789731004 0.0901567680556232 0.89390317995391 0.933752526485638 NA 0.0662474735143618 NA FALSE NA 1 1.822 . missense_variant&NMD_transcript_variant MODERATE GRID1 HGNC 4575 ENST00000464741 5/15 1 tolerated(0.06) probably_damaging(0.994) NA GGT G,C 8.236e-06 10:85916225 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 missense_variant 3.866996 0.91095 0.77855 0.516011 0.995911459043224 0 0.950796125986905 TRUE 4.06557e-06 ENSE00001292711_013 ENSE00001292711 013 10 87675890 87676059 - 53 54 63 A G 87676009 1849 51 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTCTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916251 85916252 85916252 upstr_intron -13 -0.19047619047619 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTCTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 50 119 0.994092203567864 1 0.997046101783932 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0364303825409649 0.0901567680556232 0.89390317995391 0.933752526485638 NA 0.063293575298294 NA FALSE NA 0.699 1.926 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 4/14 1 NA AAA A,G 2.471e-05 10:85916252 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant 0.313893 0.276 0.12154 0.074388 0.725899673576065 0.237768 0.950796125986905 TRUE 1.2212e-05 ENSE00001292711_016 ENSE00001292711 016 10 87675890 87676059 - 53 54 63 C T 87676015 1852 45 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCATTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916257 85916258 85916258 upstr_intron -19 -0.285714285714286 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCATTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 699 309 0.996413440415619 1 0.99820672020781 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0387516193887195 0.0901567680556232 0.89390317995391 0.933752526485638 NA 0.0644541937221714 NA FALSE NA 0 -4.404 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 4/14 1 NA ACG C,T 2.471e-05 10:85916258 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant -0.685486 0.1125 0.02659 0.074388 0.684805697110571 0.151369 0.950796125986905 TRUE 2.03812e-05 ENSE00001292711_018 ENSE00001292711 018 10 87675890 87676059 - 53 54 63 A C 87676017 1854 43 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTGCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916259 85916260 85916260 upstr_intron -21 -0.317460317460317 TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTGCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 551 62 0.842581532178458 0.968580542914896 0.905581037546677 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA -0.115080288848442 0.0587373109705196 0.89390317995391 0.933752526485638 NA -0.0281714889389611 NA FALSE NA 0 -0.2 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 4/14 1 NA GAA A,C 1.647e-05 10:85916260 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant 0.016041 0.22049 0.05883 0.074388 0.674316777124948 0.151369 0.950796125986905 TRUE 2.44505e-05 ENSE00001292711_019 ENSE00001292711 019 10 87675890 87676059 - 53 54 63 C G 87676042 1855 18 TCATCCTGTGTCTGCCACCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916284 85916285 85916285 upstr_intron -46 -0.714285714285714 TCATCCTGTGTCTGCCACCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 68 270 0.995461806296214 1 0.997730903148107 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0377999852693143 0.0901567680556232 0.89390317995391 0.933752526485638 NA 0.0639783766624687 NA FALSE NA 0.045 1.175 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 4/14 1 NA GCT C,G 8.237e-06 10:85916285 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant 1.383629 0.2639 0.40266 0.074388 0.603598903798402 0.117524 0.950796125986905 TRUE 4.11563e-06 ENSE00001292711_020 ENSE00001292711 020 10 87675890 87676059 - 53 54 63 G T 87676045 1856 15 TCATCCTGTGTCTGACAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT 85916132 85916302 85916287 85916288 85916288 upstr_intron -49 -0.761904761904762 TCATCCTGTGTCTGACAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT TCATCCTGTGTCTGCCAGCTTCTGTCTTGCTTCTGTTCATGTTCGTTCTTTTTCTCTCTGCAGGCCGTGGAGACCAACCTGGCTTCCAAGGACAGCCACTGGGTCTTTGTGAATGAGGTAAGGGCTCTAGAAATGTGATGAGCACGGCCTGGACTGAGCCCCTAGCCCCT mutant NA NA NA NA NA 139 377 1 1 1 0.924427215170061 0.863379144737759 0.9576618210269 0.909843231944377 NA NA 0.0423381789731004 0.0901567680556232 0.89390317995391 0.933752526485638 NA 0.0662474735143618 NA FALSE NA 0.016 1.784 . intron_variant&NMD_transcript_variant MODIFIER GRID1 HGNC 4575 ENST00000464741 4/14 1 NA GGC G,T 4.118e-05 10:85916288 GRID1 HGNC Symbol protein_coding 766938 ENSG00000182771 ENSE00001292711 intron_variant 1.134716 0.23778 0.31391 0.074388 0.723737055681554 0.117524 0.950796125986905 TRUE 2.06311e-05 ENSE00001292784_000 ENSE00001292784 000 17 79538999 79539168 - 44 72 54 NA NA NA NA NA AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 NA NA NA NA NA NA AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG natural 56 35 0.996170277612508 0.994402496296406 0.995286386954457 4381 1506 0.86638633441428 0.993386031117443 0.929886182765862 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 0 0 0 0 0.995286386954457 0.929886182765862 0 0 0 FALSE FALSE NA NA NA NA NA NPLOC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPLOC4 NA NA NA ENSG00000182446 ENSE00003530701 NA NA NA NA NA NA NA 0.998697457532177 TRUE NA ENSE00001292784_001 ENSE00001292784 001 17 79538999 79539168 - 44 72 54 A T 79539019 3437 150 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTAGGGCAGGTGGACCCATTGGG 81571972 81572142 81571992 81571993 81571993 downstr_intron 24 1.55813953488372 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTAGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 177 117 1 0.999674064064686 0.999837032032343 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.13361366558572 0.00628803294724223 0.995286386954457 0.929886182765862 NA 0.0699508492664811 NA FALSE NA 0 0.362 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs370817432 1 NA T:0 T:0.0006 CAA A,T 6.617e-05 17:81571993 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 intron_variant -0.157158 0.07871 0.01934 0.256867 0.639565216858013 0.049018 0.998697457532177 TRUE 8.78534e-05 ENSE00001292784_003 ENSE00001292784 003 17 79538999 79539168 - 44 72 54 G A 79539031 3439 138 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCTCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572004 81572005 81572005 downstr_intron 12 1.27906976744186 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCTCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 165 497 1 0.992964016946937 0.996482008473469 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.13361366558572 -0.000422014170506135 0.995286386954457 0.929886182765862 NA 0.0665958257076069 NA FALSE NA 0 -0.382 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs374465538 1 NA A:0.0003 A:0 GGG G,A 8.272e-06 17:81572005 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 intron_variant -0.090825 0.19748 0.01127 0.256867 0.520389134115327 0.0410053 0.998697457532177 TRUE NA ENSE00001292784_004 ENSE00001292784 004 17 79538999 79539168 - 44 72 54 G A 79539035 3440 134 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGTCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572008 81572009 81572009 downstr_intron 8 1.18604651162791 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGTCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 346 2331 0.995989663302747 0.999014360725835 0.997502012014291 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.129603328888467 0.00562832960839221 0.995286386954457 0.929886182765862 NA 0.0676158292484294 NA FALSE NA 0.004 0.191 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA GGC G,A 8.272e-06 17:81572009 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 splice_region_variant -0.193243 0.21324 0.04631 0.256867 0.521795684803441 0.0410053 0.998697457532177 TRUE NA ENSE00001292784_005 ENSE00001292784 005 17 79538999 79539168 - 44 72 54 G A 79539043 3441 126 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGATGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572016 81572017 81572017 exon -1 1 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGATGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 230 1752 0.994505377253355 0.987246249375399 0.990875813314377 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.128119042839074 -0.00613978174204466 0.995286386954457 0.929886182765862 NA 0.0609896305485149 NA FALSE NA 0.01 -0.768 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs200329005 1 NA CGT G,A 0.0001075 17:81572017 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 splice_region_variant -1.036591 0.1269 0.04327 0.706548 0.853721414836617 0 0.998697457532177 TRUE 7.05945e-05 ENSE00001292784_006 ENSE00001292784 006 17 79538999 79539168 - 44 72 54 G A 79539052 3442 117 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTTATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572025 81572026 81572026 exon -10 0.875 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTTATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 197 98 1 1 1 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.13361366558572 0.00661396888255672 0.995286386954457 0.929886182765862 NA 0.0701138172341383 NA FALSE NA 0.002 -1.482 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA TGA G,A 8.271e-06 17:81572026 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 synonymous_variant 0.693274 0.78016 0.15904 0.706548 0.800040029346109 0 0.998697457532177 TRUE 1.23684e-05 ENSE00001292784_007 ENSE00001292784 007 17 79538999 79539168 - 44 72 54 G A 79539070 3443 99 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCTCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572043 81572044 81572044 exon -28 0.625 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCTCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 1315 2083 0.996747044628981 0.999450004442357 0.998098524535669 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.130360710214701 0.00606397332491349 0.995286386954457 0.929886182765862 NA 0.0682123417698074 NA FALSE NA 0.763 -0.132 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 COSM3523647&COSM3523648 1 NA GGG G,A 8.271e-06 17:81572044 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 synonymous_variant 1.199229 0.96891 0.73815 0.706548 0.784881077657589 0 0.998697457532177 TRUE 8.18907e-06 ENSE00001292784_008 ENSE00001292784 008 17 79538999 79539168 - 44 72 54 C A 79539073 3444 96 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGTCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572046 81572047 81572047 exon -31 0.583333333333333 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGTCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 214 49 1 1 1 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.13361366558572 0.00661396888255672 0.995286386954457 0.929886182765862 NA 0.0701138172341383 NA FALSE NA 0.003 -1.438 rs17852307 upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs17852307 1 A:0.0036 A:0 A:0.0072 NA A:0 A:0.0119 A:0.001 A:0.0015 A:0.0075 GCC C,A 0.003772 17:81572047 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 synonymous_variant 1.809503 0.15336 0.08415 0.706548 0.840314692488501 0 0.998697457532177 TRUE 0.0039412 ENSE00001292784_009 ENSE00001292784 009 17 79538999 79539168 - 44 72 54 C G 79539079 3445 90 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTCGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572052 81572053 81572053 exon 36 0.5 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTCGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 132 121 0.991771745623157 1 0.995885872811579 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.125385411208877 0.00661396888255672 0.995286386954457 0.929886182765862 NA 0.0659996900457169 NA FALSE NA 1 1.433 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs371100522 1 NA G:0 G:0.0001 CCA C,G 8.272e-06 17:81572053 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 synonymous_variant 1.64543 0.98409 0.96068 0.706548 0.762892219771947 0 0.998697457532177 TRUE 4.08934e-06 ENSE00001292784_010 ENSE00001292784 010 17 79538999 79539168 - 44 72 54 G A 79539086 3446 83 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCATCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572059 81572060 81572060 exon 29 0.402777777777778 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCATCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 367 321 0.845258763734348 0.996104017556791 0.92068139064557 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA -0.0211275706799315 0.00271798643934773 0.995286386954457 0.929886182765862 NA -0.0092047921202919 NA FALSE NA 1 9.568 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA GGT G,A 8.271e-06 17:81572060 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 missense_variant 5.80551 0.99551 0.99658 0.706548 0.999130325181843 0 0.998697457532177 TRUE 8.17581e-06 ENSE00001292784_011 ENSE00001292784 011 17 79538999 79539168 - 44 72 54 G A 79539094 3447 75 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAATGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572067 81572068 81572068 exon 21 0.291666666666667 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAATGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 39 170 1 1 1 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.13361366558572 0.00661396888255672 0.995286386954457 0.929886182765862 NA 0.0701138172341383 NA FALSE NA 0.206 -0.298 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 COSM4070689&COSM4070690 1 NA CGT G,A 4.963e-05 17:81572068 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 synonymous_variant 1.826437 0.95652 0.24497 0.706548 0.852509239628851 0 0.998697457532177 TRUE 2.8646e-05 ENSE00001292784_012 ENSE00001292784 012 17 79538999 79539168 - 44 72 54 T C 79539109 3448 60 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTGGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572082 81572083 81572083 exon 6 0.0833333333333333 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTGGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 1124 398 0.990164175850765 0.977315491437437 0.983739833644101 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.123777841436485 -0.0160705396800058 0.995286386954457 0.929886182765862 NA 0.0538536508782395 NA FALSE NA 1 0.945 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA CTA T,C 2.481e-05 17:81572083 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 synonymous_variant 0.911975 0.97476 0.95937 0.706548 0.733734452705815 0 0.998697457532177 TRUE 1.63824e-05 ENSE00001292784_013 ENSE00001292784 013 17 79538999 79539168 - 44 72 54 C T 79539111 3449 58 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACATAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572084 81572085 81572085 exon 4 0.0555555555555556 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACATAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 2014 1073 0.997614113929171 0.996022648018676 0.996818380973923 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.131227779514891 0.00263661690123251 0.995286386954457 0.929886182765862 NA 0.0669321982080617 NA FALSE NA 1 4.001 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA ACG C,T 2.481e-05 17:81572085 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 missense_variant 2.48011 0.95884 0.13567 0.706548 0.880356173355454 0 0.998697457532177 TRUE 3.2799e-05 ENSE00001292784_014 ENSE00001292784 014 17 79538999 79539168 - 44 72 54 G A 79539117 3450 52 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGTAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572090 81572091 81572091 upstr_intron -3 -0.037037037037037 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGTAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 202 823 1 0.997891600943225 0.998945800471613 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.13361366558572 0.0045055698257821 0.995286386954457 0.929886182765862 NA 0.069059617705751 NA FALSE NA 1 5.69 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs561945260 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 1.654e-05 17:81572091 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 splice_region_variant 1.436812 0.98394 0.85597 0.156188 0.851518145130164 0.966599 0.998697457532177 TRUE 1.64434e-05 ENSE00001292784_015 ENSE00001292784 015 17 79538999 79539168 - 44 72 54 C G 79539118 3451 51 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTCCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572091 81572092 81572092 upstr_intron -4 -0.0555555555555556 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTCCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 587 129 0.993793800336486 1 0.996896900168243 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.127407465922206 0.00661396888255672 0.995286386954457 0.929886182765862 NA 0.0670107174023813 NA FALSE NA 0.999 0.555 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA GCA C,G 8.271e-06 17:81572092 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 splice_region_variant 0.926454 0.97129 0.55986 0.115753 0.765307359938659 0.24845 0.998697457532177 TRUE 4.10863e-06 ENSE00001292784_017 ENSE00001292784 017 17 79538999 79539168 - 44 72 54 G A 79539130 3453 39 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCTCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572103 81572104 81572104 upstr_intron -16 -0.277777777777778 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCTCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 178 214 0.988580604705889 0.995238098756108 0.991909351730999 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.122194270291609 0.00185206763866519 0.995286386954457 0.929886182765862 NA 0.0620231689651373 NA FALSE NA 0.009 0.498 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA GGG G,A 8.271e-06 17:81572104 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 non_coding_transcript_exon_variant 0.395 0.33805 0.01892 0.099367 0.768862157854966 0.110846 0.998697457532177 TRUE NA ENSE00001292784_018 ENSE00001292784 018 17 79538999 79539168 - 44 72 54 G A 79539131 3454 38 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCTCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572104 81572105 81572105 upstr_intron -17 -0.296296296296296 AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCTCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 825 1268 0.995052135258388 0.983757100100682 0.989404617679535 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.128665800844108 -0.00962893101676132 0.995286386954457 0.929886182765862 NA 0.0595184349136732 NA FALSE NA 0.003 0.001 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA GGG G,A 1.654e-05 17:81572105 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 non_coding_transcript_exon_variant -0.141453 0.24118 0.04142 0.099367 0.804409392805969 0.110846 0.998697457532177 TRUE 1.68384e-05 ENSE00001292784_019 ENSE00001292784 019 17 79538999 79539168 - 44 72 54 A G 79539136 3455 33 AATCATTACTACTGATCGTCTTTGCTCACCGCCGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572109 81572110 81572110 upstr_intron -22 -0.388888888888889 AATCATTACTACTGATCGTCTTTGCTCACCGCCGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 503 137 1 0.994541235097318 0.997270617548659 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.13361366558572 0.00115520397987479 0.995286386954457 0.929886182765862 NA 0.0673844347827974 NA FALSE NA 0 0.308 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs367858990 1 NA G:0 G:0.0001 CAG A,G 8.272e-06 17:81572110 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 intron_variant -0.30153 0.2447 0.027 0.099367 0.251268290390133 0.0634803 0.998697457532177 TRUE 4.22023e-06 ENSE00001292784_020 ENSE00001292784 020 17 79538999 79539168 - 44 72 54 C T 79539138 3456 31 AATCATTACTACTGATCGTCTTTGCTCACCACTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572111 81572112 81572112 upstr_intron -24 -0.425925925925926 AATCATTACTACTGATCGTCTTTGCTCACCACTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 350 118 1 1 1 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.13361366558572 0.00661396888255672 0.995286386954457 0.929886182765862 NA 0.0701138172341383 NA FALSE NA 0 -2.419 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs528963092 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GCG C,T 4.136e-05 17:81572112 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 intron_variant -0.097871 0.17628 0.01794 0.099367 0.763352486612976 0.0634803 0.998697457532177 TRUE NA ENSE00001292784_021 ENSE00001292784 021 17 79538999 79539168 - 44 72 54 G A 79539139 3457 30 AATCATTACTACTGATCGTCTTTGCTCACTGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572112 81572113 81572113 upstr_intron -25 -0.444444444444444 AATCATTACTACTGATCGTCTTTGCTCACTGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 501 470 0.998678255879402 0.975746780343483 0.987212518111442 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.132291921465122 -0.0176392507739608 0.995286386954457 0.929886182765862 NA 0.0573263353455806 NA FALSE NA 0 -0.306 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA CGG G,A 8.272e-06 17:81572113 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 intron_variant -0.204498 0.15742 0.0018 0.099367 0.763689456612427 0.0634803 0.998697457532177 TRUE NA ENSE00001292784_022 ENSE00001292784 022 17 79538999 79539168 - 44 72 54 G A 79539144 3458 25 AATCATTACTACTGATCGTCTTTGTTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572117 81572118 81572118 upstr_intron -30 -0.537037037037037 AATCATTACTACTGATCGTCTTTGTTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 1427 32 0.933525052841041 0.987147943263096 0.960336498052068 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA 0.0671387184267611 -0.00623808785434765 0.995286386954457 0.929886182765862 NA 0.0304503152862067 NA FALSE NA 0.051 -0.002 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 rs371964574 1 NA A:0 A:0.0002 AGC G,A 2.482e-05 17:81572118 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 intron_variant 0.185675 0.24489 0.05783 0.099367 0.652604841524502 0.0484491 0.998697457532177 TRUE 1.31654e-05 ENSE00001292784_023 ENSE00001292784 023 17 79538999 79539168 - 44 72 54 G T 79539157 3459 12 AATCATTACTAATGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 81572130 81572131 81572131 upstr_intron -43 -0.777777777777778 AATCATTACTAATGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG mutant NA NA NA NA NA 297 726 0.859426623161914 0.998937547061812 0.929182085111863 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 NA NA -0.0069597112523665 0.00555151594436887 0.995286386954457 0.929886182765862 NA -0.000704097653998814 NA FALSE NA 0.026 1.257 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572824 1 NA AGT G,T 1.655e-05 17:81572131 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003530701 intron_variant 0.052006 0.16287 0.05721 0.099367 0.549217387037651 0.0609381 0.998697457532177 TRUE 5.364e-05 ENSE00001292784_BRK ENSE00001292784 BRK 17 79538999 79539168 - 44 72 54 A,G; T,T NA NA NA AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCTTGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACCCAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG 81571972 81572142 NA NA NA NA NA NA AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCTTGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACCCAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG AATCATTACTACTGATCGTCTTTGCTCACCGCTGTTCCCCTCTGACTATTGCAGGACGTAGACAAGTTTGGCAACGAGATCACCCAGCTGGCCCGGCCCCTGCCTGTGGAGTATCTCATCATAGACGTAAGTGCCCCCCATGCACAGCTTGGGCAGGTGGACCCATTGGG control 41 25 0 0.13645472491228 0.06822736245614 583 152 0.0524874639140722 0.00333564028545375 0.027911552099763 0.996170277612508 0.994402496296406 0.86638633441428 0.993386031117443 -0.996170277612508 -0.857947771384126 -0.813898870500208 -0.99005039083199 0.995286386954457 0.929886182765862 -0.927059024498317 -0.901974630666099 0.0250843938322181 TRUE TRUE NA NA NA NA NA NPLOC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPLOC4 NA NA NA ENSG00000182446 ENSE00003530701 NA NA NA NA NA NA NA 0.998697457532177 TRUE NA ENSE00001292857_000 ENSE00001292857 000 8 100977531 100977700 - 32 96 42 NA NA NA NA NA ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC 99965302 99965472 NA NA NA NA NA NA ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC natural NA NA NA NA NA 6230 3923 0.944318231868753 0.991374600843029 0.967846416355891 NA NA 0.944318231868753 0.991374600843029 NA NA 0 0 NA 0.967846416355891 NA 0 NA FALSE NA NA NA NA NA NA RGS22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS22 NA NA NA ENSG00000132554 ENSE00003517613 NA NA NA NA NA NA NA 1.18909888570947e-20 FALSE NA ENSE00001292857_001 ENSE00001292857 001 8 100977531 100977700 - 32 96 42 C G 100977541 1755 160 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCACACCTCATTTC 99965302 99965472 99965312 99965313 99965313 downstr_intron 22 1.70967741935484 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCACACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 162 251 1 1 1 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 0.00862539915697103 NA 0.967846416355891 NA 0.0321535836441088 NA FALSE NA 0 0.094 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 22/25 1 NA TCT C,G 8.271e-06 8:99965313 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 intron_variant 0.00726 0.14315 0.0562 0.061011 0.293393963542322 0.0436289 1.18909888570947e-20 FALSE 4.07412e-06 ENSE00001292857_002 ENSE00001292857 002 8 100977531 100977700 - 32 96 42 C A 100977546 1756 155 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGTTGCAGACCTCATTTC 99965302 99965472 99965317 99965318 99965318 downstr_intron 17 1.54838709677419 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGTTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 598 884 1 0.890428548475028 0.945214274237514 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 -0.100946052368001 NA 0.967846416355891 NA -0.0226321421183771 NA FALSE NA 0 -3.97 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 22/25 1 NA ACC C,A 8.271e-06 8:99965318 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 intron_variant -0.294719 0.06333 0.00116 0.061011 0.335860389134504 0.0436289 1.18909888570947e-20 FALSE 4.07219e-06 ENSE00001292857_003 ENSE00001292857 003 8 100977531 100977700 - 32 96 42 A G 100977548 1757 153 GAAATGAGGTCTGCACCGTCTTGCATGCTTACCTGTCGGCCATATGGTTGGAGGCCTAGGAAGGAATCACTGAGTAAAGCAGTTTTGATAGCAGGCACTGAAGTATTTGCATATTGTTTGATTCCATCCTGTAATTATATTAAATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965319 99965320 99965320 downstr_intron 15 1.48387096774194 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGACGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 232 93 1 1 1 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 0.00862539915697103 NA 0.967846416355891 NA 0.0321535836441088 NA FALSE NA 0 -0.211 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 22/25 1 NA CAT A,G 8.271e-06 8:99965320 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 intron_variant 0.030112 0.15919 0.01901 0.061011 0.404831485361099 0.0436289 1.18909888570947e-20 FALSE 8.13961e-06 ENSE00001292857_004 ENSE00001292857 004 8 100977531 100977700 - 32 96 42 T C 100977549 1758 152 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGGTGGTGCAGACCTCATTTC 99965302 99965472 99965320 99965321 99965321 downstr_intron 14 1.45161290322581 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGGTGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 66 1252 1 0.995236014198999 0.997618007099499 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 0.00386141335596968 NA 0.967846416355891 NA 0.0297715907436081 NA FALSE NA 0 -1.299 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 22/25 1 NA ATC T,C 8.271e-06 8:99965321 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 intron_variant -0.153539 0.12657 0.00831 0.061011 0.400636510335965 0.0436289 1.18909888570947e-20 FALSE NA ENSE00001292857_005 ENSE00001292857 005 8 100977531 100977700 - 32 96 42 G C 100977553 1759 148 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGGAAGATGGTGCAGACCTCATTTC 99965302 99965472 99965324 99965325 99965325 downstr_intron 10 1.32258064516129 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGGAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 273 496 1 0.998528722405651 0.999264361202826 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 0.00715412156262241 NA 0.967846416355891 NA 0.0314179448469345 NA FALSE NA 0 -0.818 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 22/25 rs200324346 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TGC G,C 8.272e-06 8:99965325 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 intron_variant -0.633605 0.09411 0.0088 0.061011 0.334317765750704 0.0514858 1.18909888570947e-20 FALSE 4.07004e-06 ENSE00001292857_007 ENSE00001292857 007 8 100977531 100977700 - 32 96 42 C T 100977567 1761 134 GAAATGAGGTCTGCACCATCTTGCATGCTTACCTGTTGGCCATATGGTTGGAGGCCTAGGAAGGAATCACTGAGTAAAGCAGTTTTGATAGCAGGCACTGAAGTATTTGCATATTGTTTGATTCCATCCTGTAATTATATTAAATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965338 99965339 99965339 exon -5 0.958333333333333 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCAACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 882 278 0.999953331624435 1 0.999976665812217 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556350997556811 0.00862539915697103 NA 0.967846416355891 NA 0.0321302494563261 NA FALSE NA 0.942 0.935 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 22/26 COSM1453558&COSM1453557 1 tolerated(0.1) benign(0.01) NA TCG C,T 4.136e-05 8:99965339 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 missense_variant 3.721165 0.95262 0.69676 0.516011 0.969440137203539 0 1.18909888570947e-20 FALSE 2.03394e-05 ENSE00001292857_009 ENSE00001292857 009 8 100977531 100977700 - 32 96 42 A G 100977572 1763 129 GAAATGAGGTCTGCACCATCTTGCATGCTTACCTGTCGGCCGTATGGTTGGAGGCCTAGGAAGGAATCACTGAGTAAAGCAGTTTTGATAGCAGGCACTGAAGTATTTGCATATTGTTTGATTCCATCCTGTAATTATATTAAATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965343 99965344 99965344 exon -10 0.90625 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATACGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 334 241 0.998885767754603 1 0.999442883877302 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0545675358858499 0.00862539915697103 NA 0.967846416355891 NA 0.0315964675214105 NA FALSE NA 0.903 -0.547 . synonymous_variant LOW RGS22 HGNC 24499 ENST00000523287 22/26 1 NA CAT A,G 8.272e-06 8:99965344 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 synonymous_variant -1.257151 0.24591 0.09947 0.516011 0.20668055400879 0 1.18909888570947e-20 FALSE 4.06702e-06 ENSE00001292857_010 ENSE00001292857 010 8 100977531 100977700 - 32 96 42 T C 100977573 1764 128 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATGTGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC 99965302 99965472 99965344 99965345 99965345 exon -11 0.895833333333333 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATGTGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 416 1648 0.998306008174983 0.958059569047007 0.978182788610995 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0539877763062292 -0.0333150317960219 NA 0.967846416355891 NA 0.0103363722551036 NA FALSE NA 0.98 2.971 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 22/26 1 deleterious(0.04) probably_damaging(0.999) NA ATA T,C 8.272e-06 8:99965345 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 missense_variant 2.678379 0.66828 0.83465 0.516011 0.991214924118018 0 1.18909888570947e-20 FALSE 8.13431e-06 ENSE00001292857_011 ENSE00001292857 011 8 100977531 100977700 - 32 96 42 T A 100977575 1765 126 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCTTATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC 99965302 99965472 99965346 99965347 99965347 exon -13 0.875 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCTTATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 501 455 0.821932899470322 0.94996989515406 0.885951397312191 NA NA 0.944318231868753 0.991374600843029 NA NA -0.122385332398431 -0.0414047056889694 NA 0.967846416355891 NA -0.0818950190437002 NA FALSE NA 0.702 -0.662 . synonymous_variant LOW RGS22 HGNC 24499 ENST00000523287 22/26 rs529535476 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 ATG T,A 1.654e-05 8:99965347 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 synonymous_variant -0.571635 0.18143 0.24709 0.516011 0.180140963070978 0 1.18909888570947e-20 FALSE 1.21999e-05 ENSE00001292857_014 ENSE00001292857 014 8 100977531 100977700 - 32 96 42 G A 100977602 1768 99 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTTAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC 99965302 99965472 99965373 99965374 99965374 exon -40 0.59375 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTTAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 177 47 0.986987886680662 0.977867173812441 0.982427530246552 NA NA 0.944318231868753 0.991374600843029 NA NA 0.042669654811909 -0.0135074270305882 NA 0.967846416355891 NA 0.0145811138906604 NA FALSE NA 0.001 0.277 . synonymous_variant LOW RGS22 HGNC 24499 ENST00000523287 22/26 1 NA TGA G,A 8.274e-06 8:99965374 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 synonymous_variant 0.087757 0.15094 0.03185 0.487112 0.62738680053537 0 1.18909888570947e-20 FALSE 4.06626e-06 ENSE00001292857_015 ENSE00001292857 015 8 100977531 100977700 - 32 96 42 A G 100977606 1769 95 GAAATGAGGTCTGCACCATCTTGCATGCTTACCTGTCGGCCATATGGTTGGAGGCCTAGGAAGGAATCACTGAGTGAAGCAGTTTTGATAGCAGGCACTGAAGTATTTGCATATTGTTTGATTCCATCCTGTAATTATATTAAATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965377 99965378 99965378 exon -44 0.552083333333333 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTCACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 93 674 1 0.977229500466617 0.988614750233308 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 -0.0141451003764124 NA 0.967846416355891 NA 0.0207683338774171 NA FALSE NA 0.001 1.309 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 22/26 1 tolerated(0.6) benign(0.295) NA TAA A,G 8.274e-06 8:99965378 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 missense_variant -1.087383 0.15737 0.05233 0.487112 0.95791628608612 0 1.18909888570947e-20 FALSE 4.06613e-06 ENSE00001292857_016 ENSE00001292857 016 8 100977531 100977700 - 32 96 42 A G 100977623 1770 78 GAAATGAGGTCTGCACCATCTTGCATGCTTACCTGTCGGCCATATGGTTGGAGGCCTAGGAAGGAATCACTGAGTAAAGCAGTTTTGATAGCGGGCACTGAAGTATTTGCATATTGTTTGATTCCATCCTGTAATTATATTAAATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965394 99965395 99965395 exon 36 0.375 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCCGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 92 656 0.994505377253355 0.984404157930375 0.989454767591865 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0501871453846011 -0.00697044291265425 NA 0.967846416355891 NA 0.0216083512359734 NA FALSE NA 0 0.369 . synonymous_variant LOW RGS22 HGNC 24499 ENST00000523287 22/26 1 NA CAG A,G 8.276e-06 8:99965395 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 synonymous_variant -0.542871 0.159 0.0141 0.487112 0.499783559982098 0 1.18909888570947e-20 FALSE 4.07103e-06 ENSE00001292857_018 ENSE00001292857 018 8 100977531 100977700 - 32 96 42 A C 100977627 1772 74 GAAATGAGGTCTGCACCATCTTGCATGCTTACCTGTCGGCCATATGGTTGGAGGCCTAGGAAGGAATCACTGAGTAAAGCAGTTTTGATAGCAGGCCCTGAAGTATTTGCATATTGTTTGATTCCATCCTGTAATTATATTAAATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965398 99965399 99965399 exon 32 0.333333333333333 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGGGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 222 120 0.984792873589678 0.992703413457766 0.988748143523722 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0404746417209251 0.0013288126147375 NA 0.967846416355891 NA 0.0209017271678313 NA FALSE NA 0.012 0.004 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 22/26 1 tolerated(0.55) benign(0) NA CAC A,C 8.277e-06 8:99965399 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 missense_variant -1.759794 0.09573 0.00093 0.487112 0.187453597735115 0 1.18909888570947e-20 FALSE 4.07199e-06 ENSE00001292857_020 ENSE00001292857 020 8 100977531 100977700 - 32 96 42 T C 100977634 1774 67 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATGCTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC 99965302 99965472 99965405 99965406 99965406 exon 25 0.260416666666667 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATGCTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 765 1070 1 0.998152383153069 0.999076191576534 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 0.00677778231004011 NA 0.967846416355891 NA 0.0312297752206434 NA FALSE NA 0 -0.669 . missense_variant MODERATE RGS22 HGNC 24499 ENST00000523287 22/26 1 tolerated(0.48) benign(0.004) NA GTA T,C 8.278e-06 8:99965406 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 missense_variant -2.075544 0.11139 0.01173 0.487112 0.485861851874436 0 1.18909888570947e-20 FALSE 4.08137e-06 ENSE00001292857_021 ENSE00001292857 021 8 100977531 100977700 - 32 96 42 T C 100977644 1775 57 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAGTATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC 99965302 99965472 99965415 99965416 99965416 exon 15 0.15625 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAGTATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 63 916 1 0.999785694039366 0.999892847019683 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 0.00841109319633704 NA 0.967846416355891 NA 0.0320464306637918 NA FALSE NA 0.128 0.195 rs147697097 synonymous_variant LOW RGS22 HGNC 24499 ENST00000523287 22/26 rs147697097 1 C:0.0054 C:0 C:0.0029 NA C:0 C:0.0139 C:0.0112 C:0.0073 C:0.0269 ATT T,C 0.018 8:99965416 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 synonymous_variant -1.091604 0.38177 0.03199 0.487112 0.438429596647901 0 1.18909888570947e-20 FALSE 0.0182438 ENSE00001292857_022 ENSE00001292857 022 8 100977531 100977700 - 32 96 42 C T 100977655 1776 46 GAAATGAGGTCTGCACCATCTTGCATGCTTACCTGTCGGCCATATGGTTGGAGGCCTAGGAAGGAATCACTGAGTAAAGCAGTTTTGATAGCAGGCACTGAAGTATTTGCATATTGTTTGATTCTATCCTGTAATTATATTAAATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965426 99965427 99965427 exon 4 0.0416666666666667 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATAGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 618 427 0.707964495738579 0.801183179550031 0.754573837644305 NA NA 0.944318231868753 0.991374600843029 NA NA -0.236353736130174 -0.190191421292997 NA 0.967846416355891 NA -0.213272578711586 NA FALSE NA 0.112 1.608 NA NA NA RGS22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:99965427 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 missense_variant 1.671225 0.88952 0.51122 0.487112 0.944299899847655 0 1.18909888570947e-20 FALSE 0.000104412 ENSE00001292857_024 ENSE00001292857 024 8 100977531 100977700 - 32 96 42 C A 100977658 1778 43 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGTATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC 99965302 99965472 99965429 99965430 99965430 exon 1 0.0104166666666667 ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGTATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 352 380 0.00418667715452785 0.00229825694561137 0.00324246705006961 NA NA 0.944318231868753 0.991374600843029 NA NA -0.940131554714226 -0.989076343897418 NA 0.967846416355891 NA -0.964603949305822 NA TRUE NA 0.136 -0.477 . missense_variant&splice_region_variant MODERATE RGS22 HGNC 24499 ENST00000523287 22/26 1 deleterious(0.02) possibly_damaging(0.667) NA TCC C,A 8.288e-06 8:99965430 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 missense_variant 3.425888 0.82446 0.24245 0.487112 0.979060962037288 0 1.18909888570947e-20 FALSE NA ENSE00001292857_025 ENSE00001292857 025 8 100977531 100977700 - 32 96 42 A C 100977672 1779 29 GAAATGAGGTCTGCACCATCTTGCATGCTTACCTGTCGGCCATATGGTTGGAGGCCTAGGAAGGAATCACTGAGTAAAGCAGTTTTGATAGCAGGCACTGAAGTATTTGCATATTGTTTGATTCCATCCTGTAATTATATTCAATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965443 99965444 99965444 upstr_intron -14 -0.30952380952381 ATTATCTTTTCTGGGTAATAATTTAATTGAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 686 653 0.936250649030194 0.826189532511538 0.881220090770866 NA NA 0.944318231868753 0.991374600843029 NA NA -0.00806758283855935 -0.165185068331491 NA 0.967846416355891 NA -0.0866263255850252 NA FALSE NA 0.043 0.776 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 21/25 1 NA TAA A,C 8.376e-06 8:99965444 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 intron_variant 0.814379 0.16962 0.08314 0.061011 0.823124969858882 0.0448725 1.18909888570947e-20 FALSE NA ENSE00001292857_026 ENSE00001292857 026 8 100977531 100977700 - 32 96 42 A G 100977673 1780 28 GAAATGAGGTCTGCACCATCTTGCATGCTTACCTGTCGGCCATATGGTTGGAGGCCTAGGAAGGAATCACTGAGTAAAGCAGTTTTGATAGCAGGCACTGAAGTATTTGCATATTGTTTGATTCCATCCTGTAATTATATTAGATTAAATTATTACCCAGAAAAGATAAT 99965302 99965472 99965444 99965445 99965445 upstr_intron -15 -0.333333333333333 ATTATCTTTTCTGGGTAATAATTTAATCTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC mutant NA NA NA NA NA 186 21 1 1 1 NA NA 0.944318231868753 0.991374600843029 NA NA 0.0556817681312466 0.00862539915697103 NA 0.967846416355891 NA 0.0321535836441088 NA FALSE NA 0.056 1.502 . intron_variant MODIFIER RGS22 HGNC 24499 ENST00000523287 21/25 1 NA AAA A,G 1.675e-05 8:99965445 RGS22 HGNC Symbol protein_coding 170332 ENSG00000132554 ENSE00003517613 intron_variant 1.143135 0.18447 0.10147 0.061011 0.857254898477509 0.0448725 1.18909888570947e-20 FALSE 9.86329e-06 ENSE00001292857_BRK ENSE00001292857 BRK 8 100977531 100977700 - 32 96 42 A,G; T,T NA NA NA ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACTTGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGCCAAGCATGCAAGATGGTGCAGACCTCATTTC 99965302 99965472 NA NA NA NA NA NA ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACTTGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGCCAAGCATGCAAGATGGTGCAGACCTCATTTC ATTATCTTTTCTGGGTAATAATTTAATTTAATATAATTACAGGATGGAATCAAACAATATGCAAATACTTCAGTGCCTGCTATCAAAACTGCTTTACTCAGTGATTCCTTCCTAGGCCTCCAACCATATGGCCGACAGGTAAGCATGCAAGATGGTGCAGACCTCATTTC control NA NA NA NA NA 138 802 0 0 0 NA NA 0.944318231868753 0.991374600843029 NA NA -0.944318231868753 -0.991374600843029 NA 0.967846416355891 NA -0.967846416355891 NA TRUE NA NA NA NA NA NA RGS22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS22 NA NA NA ENSG00000132554 ENSE00003517613 NA NA NA NA NA NA NA 1.18909888570947e-20 FALSE NA ENSE00001293589_000 ENSE00001293589 000 17 80972283 80972452 - 47 66 57 NA NA NA NA NA GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 NA NA NA NA NA NA TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC natural 26 15 0.998094654001279 0.993267112614022 0.99568088330765 7347 3424 0.984060081432173 0.812756787019479 0.898408434225826 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 0 0 0 0 0.99568088330765 0.898408434225826 0 0 0 FALSE FALSE NA NA NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA ENSG00000175711 ENSE00003652301 NA NA NA NA NA NA NA 2.14222358700744e-11 FALSE NA ENSE00001293589_001 ENSE00001293589 001 17 80972283 80972452 - 47 66 57 A C 80972296 3778 157 GTAATTTCACTAACGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014419 83014420 83014420 downstr_intron 34 1.73913043478261 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCGTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 267 1815 1 0.999296078649338 0.999648039324669 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0159399185678267 0.186539291629858 0.99568088330765 0.898408434225826 NA 0.101239605098843 NA FALSE NA 0.001 0.279 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/4 rs367993023 1 NA C:0 C:0.0001 AAG A,C 8.237e-06 17:83014420 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.099153 0.1916 0.09125 0.078448 0.475192369936988 0.0879871 2.14222358700744e-11 FALSE 1.63331e-05 ENSE00001293589_002 ENSE00001293589 002 17 80972283 80972452 - 47 66 57 C T 80972305 3779 148 GTAATTTCACTAAAGGTAGTAATGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014428 83014429 83014429 downstr_intron 25 1.54347826086957 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCATTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant 24 46 0.937355324019745 0.951140578529417 0.944247951274581 NA NA NA NA NA 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 -0.0607393299815342 -0.0421265340846055 NA NA 0.99568088330765 0.898408434225826 -0.0514329320330699 NA NA NA FALSE 0 -0.414 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/4 1 NA ACG C,T 3.295e-05 17:83014429 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant 0.067145 0.1373 0.02395 0.162113 0.631267848199412 0.0879871 2.14222358700744e-11 FALSE 2.8556e-05 ENSE00001293589_003 ENSE00001293589 003 17 80972283 80972452 - 47 66 57 G A 80972306 3780 147 GTAATTTCACTAAAGGTAGTAACAACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014429 83014430 83014430 downstr_intron 24 1.52173913043478 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTTGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 354 456 1 1 1 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0159399185678267 0.187243212980521 0.99568088330765 0.898408434225826 NA 0.101591565774174 NA FALSE NA 0 -0.952 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/4 rs569024917 1 A:0.0004 A:0.0008 A:0 NA A:0.001 A:0 A:0 CGA G,A 1.647e-05 17:83014430 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.320783 0.07449 0.00554 0.162113 0.738553173430214 0.145949 2.14222358700744e-11 FALSE 1.22314e-05 ENSE00001293589_004 ENSE00001293589 004 17 80972283 80972452 - 47 66 57 A C 80972309 3781 144 GTAATTTCACTAAAGGTAGTAACGACCCTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014432 83014433 83014433 downstr_intron 21 1.45652173913043 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGGGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 1140 273 0.998314426492074 1 0.999157213246037 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0142543450599004 0.187243212980521 0.99568088330765 0.898408434225826 NA 0.100748779020211 NA FALSE NA 0 -0.905 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/4 1 NA CAC A,C 8.236e-06 17:83014433 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.474928 0.07999 0.01583 0.162113 0.360419714476395 0.157542 2.14222358700744e-11 FALSE 1.22066e-05 ENSE00001293589_005 ENSE00001293589 005 17 80972283 80972452 - 47 66 57 A C 80972313 3782 140 GTAATTTCACTAAAGGTAGTAACGACACTACGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014436 83014437 83014437 downstr_intron 17 1.3695652173913 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCGTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 1671 46 0.969902330278003 0.993060714384897 0.98148152233145 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.0141577511541701 0.180303927365418 0.99568088330765 0.898408434225826 NA 0.0830730881056241 NA FALSE NA 0 1.436 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/4 1 NA AAG A,C 8.236e-06 17:83014437 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.228495 0.11036 0.03805 0.162113 0.225118347976463 0.0964205 2.14222358700744e-11 FALSE 4.06709e-06 ENSE00001293589_006 ENSE00001293589 006 17 80972283 80972452 - 47 66 57 G T 80972314 3783 139 GTAATTTCACTAAAGGTAGTAACGACACTAATGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014437 83014438 83014438 downstr_intron 16 1.34782608695652 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCATTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 428 2465 0.99964177276283 0.997240482738372 0.998441127750601 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0155816913306567 0.184483695718893 0.99568088330765 0.898408434225826 NA 0.100032693524775 NA FALSE NA 0.004 -0.325 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/4 1 NA AGG G,T 8.236e-06 17:83014438 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.32412 0.10167 0.0082 0.162113 0.322897513370691 0.0964205 2.14222358700744e-11 FALSE 4.06815e-06 ENSE00001293589_007 ENSE00001293589 007 17 80972283 80972452 - 47 66 57 C G 80972319 3784 134 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGGCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014442 83014443 83014443 downstr_intron 11 1.23913043478261 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGCCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 2227 2603 0.997005715798004 0.998933334091971 0.997969524944988 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0129456343658307 0.186176547072492 0.99568088330765 0.898408434225826 NA 0.0995610907191614 NA FALSE NA 0 -0.898 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/4 1 NA GCC C,G 8.236e-06 17:83014443 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.062036 0.10973 0.00661 0.162113 0.274345778854599 0.0964205 2.14222358700744e-11 FALSE 8.13074e-06 ENSE00001293589_009 ENSE00001293589 009 17 80972283 80972452 - 47 66 57 G A 80972330 3786 123 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACACTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014453 83014454 83014454 exon -1 1 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGTGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 527 1388 0.995835972899277 0.995107695764503 0.99547183433189 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0117758914671039 0.182350908745023 0.99568088330765 0.898408434225826 NA 0.0970634001060637 NA FALSE NA 0.928 -0.534 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000573629 4/5 1 NA CGC G,A 2.471e-05 17:83014454 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 splice_region_variant 0.183511 0.15149 0.03095 0.695654 0.587983598224249 0 2.14222358700744e-11 FALSE 1.21894e-05 ENSE00001293589_010 ENSE00001293589 010 17 80972283 80972452 - 47 66 57 C T 80972333 3787 120 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTTGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014456 83014457 83014457 exon -4 0.954545454545455 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCAAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 1043 2366 0.999485930307082 0.999543614777647 0.999514772542365 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0154258488749087 0.186786827758168 0.99568088330765 0.898408434225826 NA 0.101106338316538 NA FALSE NA 0.001 -2.644 rs140255493 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs140255493 1 T:0.0010 T:0.0015 T:0.0014 NA T:0 T:0.002 T:0 T:0.0005 T:0 TCG C,T 0.0002306 17:83014457 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 synonymous_variant 1.067107 0.1308 0.00565 0.695654 0.571051577991394 0 2.14222358700744e-11 FALSE 0.000260027 ENSE00001293589_011 ENSE00001293589 011 17 80972283 80972452 - 47 66 57 C T 80972336 3788 117 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGATGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014459 83014460 83014460 exon -7 0.909090909090909 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCATCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 1891 1106 0.977596644797458 0.931761518325978 0.954679081561718 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.00646343663471483 0.119004731306498 0.99568088330765 0.898408434225826 NA 0.0562706473358918 NA FALSE NA 0 -2.153 rs145220345 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs145220345 1 NA T:0.0002 T:0 ACG C,T 2.471e-05 17:83014460 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 synonymous_variant 1.25624 0.09109 0.0044 0.695654 0.610014786842018 0 2.14222358700744e-11 FALSE 2.43778e-05 ENSE00001293589_012 ENSE00001293589 012 17 80972283 80972452 - 47 66 57 G A 80972337 3789 116 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACAGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014460 83014461 83014461 exon -8 0.893939393939394 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCTGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant 48 36 0.875922536593322 0.918819197999268 0.897370867296295 938 545 0.996890079039625 0.99844881120655 0.997669445123088 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 -0.122172117407957 -0.0744479146147538 0.0128299976074517 0.185692024187071 0.99568088330765 0.898408434225826 -0.0983100160113553 0.0992610108972615 0.197571026908617 FALSE FALSE 1 3.977 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs573473416&COSM3672639 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 8.236e-06 17:83014461 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 5.198774 0.86619 0.6057 0.695654 0.998299959288048 0 2.14222358700744e-11 FALSE 2.4377e-05 ENSE00001293589_013 ENSE00001293589 013 17 80972283 80972452 - 47 66 57 C T 80972347 3790 106 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAATGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014470 83014471 83014471 exon -18 0.742424242424242 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCATTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 787 654 0.982328132760838 0.999114239410298 0.990721186085568 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.00173194867133486 0.186357452390819 0.99568088330765 0.898408434225826 NA 0.0923127518597419 NA FALSE NA 0 -0.119 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs532303693 1 NA ACG C,T 4.942e-05 17:83014471 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant -0.079406 0.13616 0.01346 0.695654 0.646755842759058 0 2.14222358700744e-11 FALSE 4.46976e-05 ENSE00001293589_015 ENSE00001293589 015 17 80972283 80972452 - 47 66 57 A G 80972351 3792 102 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCGGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014474 83014475 83014475 exon -22 0.681818181818182 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCCGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 498 796 1 0.997227413405744 0.998613706702872 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0159399185678267 0.184470626386265 0.99568088330765 0.898408434225826 NA 0.100205272477046 NA FALSE NA 0.92 -0.261 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 1 NA CAG A,G 8.236e-06 17:83014475 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 synonymous_variant -0.248637 0.13515 0.06835 0.695654 0.35357225943932 0 2.14222358700744e-11 FALSE 1.21889e-05 ENSE00001293589_016 ENSE00001293589 016 17 80972283 80972452 - 47 66 57 C T 80972356 3793 97 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTTGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014479 83014480 83014480 exon -27 0.606060606060606 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACAAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant 23 11 0.960274619199778 0.991645571697605 0.975960095448692 1506 117 0.999644216063786 0.998645855363458 0.999145035713622 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 -0.0378200348015006 -0.00162154091641686 0.0155841346316129 0.185889068343979 0.99568088330765 0.898408434225826 -0.0197207878589588 0.100736601487796 0.120457389346755 FALSE FALSE 0 0.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:83014480 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 0.375605 0.15646 0.02105 0.695654 0.842514804241945 0 2.14222358700744e-11 FALSE 1.62513e-05 ENSE00001293589_017 ENSE00001293589 017 17 80972283 80972452 - 47 66 57 C G 80972356 3794 97 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTGGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014479 83014480 83014480 exon -27 0.606060606060606 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACCAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 1473 2572 0.999411810082401 0.99806008864953 0.998735949365966 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0153517286502278 0.185303301630051 0.99568088330765 0.898408434225826 NA 0.10032751514014 NA FALSE NA 0 0.049 NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA ENSG00000175711 ENSE00003652301 missense_variant -0.772414 0.15889 0.0206 0.695654 0.736400088642928 0 2.14222358700744e-11 FALSE 8.12566e-06 ENSE00001293589_018 ENSE00001293589 018 17 80972283 80972452 - 47 66 57 G A 80972357 3795 96 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCATGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014480 83014481 83014481 exon -28 0.590909090909091 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACATGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 1100 166 0.948663600542829 1 0.974331800271414 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.0353964808893447 0.187243212980521 0.99568088330765 0.898408434225826 NA 0.0759233660455881 NA FALSE NA 0 -0.358 rs137995861 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs137995861 1 NA A:0.0002 A:0 CGT G,A 8.236e-06 17:83014481 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 synonymous_variant 0.034317 0.12467 0.01535 0.695654 0.567255771448 0 2.14222358700744e-11 FALSE 4.06243e-06 ENSE00001293589_019 ENSE00001293589 019 17 80972283 80972452 - 47 66 57 C T 80972363 3796 90 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGTAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014486 83014487 83014487 exon 33 0.5 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTACAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 847 361 0.992741237827263 0.997646498320387 0.995193868073825 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.00868115639508926 0.184889711300908 0.99568088330765 0.898408434225826 NA 0.0967854338479984 NA FALSE NA 0.987 -0.32 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 1 NA GCA C,T 8.237e-06 17:83014487 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 synonymous_variant 0.430537 0.65698 0.1852 0.695654 0.555035569611779 0 2.14222358700744e-11 FALSE 4.0618e-06 ENSE00001293589_020 ENSE00001293589 020 17 80972283 80972452 - 47 66 57 A G 80972364 3797 89 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCGGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014487 83014488 83014488 exon 32 0.484848484848485 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCCGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 270 1175 1 0.998317351922737 0.999158675961368 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0159399185678267 0.185560564903257 0.99568088330765 0.898408434225826 NA 0.100750241735542 NA FALSE NA 1 3.765 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 1 NA CAG A,G 1.647e-05 17:83014488 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 3.325997 0.80051 0.58516 0.695654 0.996360700282054 0 2.14222358700744e-11 FALSE 1.62464e-05 ENSE00001293589_021 ENSE00001293589 021 17 80972283 80972452 - 47 66 57 C A 80972366 3798 87 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGACTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014489 83014490 83014490 exon 30 0.454545454545455 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGTCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 651 1224 0.933261036520905 0.998683342717641 0.965972189619273 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.0507990449112687 0.185926555698162 0.99568088330765 0.898408434225826 NA 0.0675637553934464 NA FALSE NA 0.993 0.049 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 1 NA GCC C,A 8.237e-06 17:83014490 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 2.027132 0.77326 0.333 0.695654 0.972552414748129 0 2.14222358700744e-11 FALSE 8.12315e-06 ENSE00001293589_022 ENSE00001293589 022 17 80972283 80972452 - 47 66 57 C T 80972372 3799 81 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACTCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014495 83014496 83014496 exon 24 0.363636363636364 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGAGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 51 695 1 1 1 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0159399185678267 0.187243212980521 0.99568088330765 0.898408434225826 NA 0.101591565774174 NA FALSE NA 0.999 0.052 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 1 NA CCC C,T 8.237e-06 17:83014496 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 synonymous_variant 1.12088 0.84515 0.17071 0.695654 0.479086877559116 0 2.14222358700744e-11 FALSE 4.06144e-06 ENSE00001293589_023 ENSE00001293589 023 17 80972283 80972452 - 47 66 57 C A 80972373 3800 80 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCAGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014496 83014497 83014497 exon 23 0.348484848484849 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCTGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 593 1864 0.829392725318026 0.632513081873032 0.730952903595529 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.154667356114148 -0.180243705146447 0.99568088330765 0.898408434225826 NA -0.167455530630297 NA FALSE NA 1 3.149 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:83014497 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 6.381968 0.91321 0.61148 0.695654 0.997960996692859 0 2.14222358700744e-11 FALSE 8.12301e-06 ENSE00001293589_024 ENSE00001293589 024 17 80972283 80972452 - 47 66 57 C T 80972373 3801 80 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCTGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014496 83014497 83014497 exon 23 0.348484848484849 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCAGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 208 780 0.971558476532154 0.823983888029592 0.897771182280873 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.0125016049000188 0.011227101010113 0.99568088330765 0.898408434225826 NA -0.000637251944952899 NA FALSE NA 1 3.149 NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA ENSG00000175711 ENSE00003652301 missense_variant 6.401928 0.91074 0.5709 0.695654 0.999379235673863 0 2.14222358700744e-11 FALSE 8.12301e-06 ENSE00001293589_025 ENSE00001293589 025 17 80972283 80972452 - 47 66 57 G A 80972374 3802 79 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCACTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014497 83014498 83014498 exon 22 0.333333333333333 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGTGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 988 1132 0.998629519964612 0.974240629963958 0.986435074964285 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0145694385324387 0.161483842944479 0.99568088330765 0.898408434225826 NA 0.088026640738459 NA FALSE NA 1 0.319 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs559296171 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 4.942e-05 17:83014498 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 5.134726 0.84786 0.22867 0.646311 0.996415170966264 0 2.14222358700744e-11 FALSE 3.65559e-05 ENSE00001293589_027 ENSE00001293589 027 17 80972283 80972452 - 47 66 57 C T 80972384 3804 69 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATTATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014507 83014508 83014508 exon 12 0.181818181818182 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATAATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 365 1321 1 0.999247428650577 0.999623714325289 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0159399185678267 0.186490641631098 0.99568088330765 0.898408434225826 NA 0.101215280099462 NA FALSE NA 1 3.149 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 COSM3523927 1 NA TCA C,T 8.237e-06 17:83014508 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 5.076586 0.91074 0.5709 0.695654 0.994777791985986 0 2.14222358700744e-11 FALSE 1.21849e-05 ENSE00001293589_028 ENSE00001293589 028 17 80972283 80972452 - 47 66 57 T C 80972386 3805 67 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCACGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014509 83014510 83014510 exon 10 0.151515151515152 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCGTGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 249 2896 0.982904578873684 0.995605772491044 0.989255175682364 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.00115550255848929 0.182848985471565 0.99568088330765 0.898408434225826 NA 0.0908467414565379 NA FALSE NA 1 3.229 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 1 NA ATG T,C 8.237e-06 17:83014510 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 3.627813 0.9025 0.55901 0.695654 0.987035407464683 0 2.14222358700744e-11 FALSE 4.06154e-06 ENSE00001293589_029 ENSE00001293589 029 17 80972283 80972452 - 47 66 57 C T 80972389 3806 64 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGATGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014512 83014513 83014513 exon 7 0.106060606060606 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACATCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 29 1108 0.998572211179474 0.995175068375026 0.99687363977725 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0145121297473008 0.182418281355547 0.99568088330765 0.898408434225826 NA 0.0984652055514238 NA FALSE NA 1 3.149 rs149064095 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs149064095 1 NA T:0.0002 T:0 ACG C,T 8.237e-06 17:83014513 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 1.257678 0.85043 0.47946 0.695654 0.96877168873982 0 2.14222358700744e-11 FALSE 8.12334e-06 ENSE00001293589_030 ENSE00001293589 030 17 80972283 80972452 - 47 66 57 G A 80972390 3807 63 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACATCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014513 83014514 83014514 exon 6 0.0909090909090909 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGATGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 373 856 0.992405538314342 0.995751876411 0.994078707362671 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.00834545688216859 0.182995089391521 0.99568088330765 0.898408434225826 NA 0.0956702731368447 NA FALSE NA 1 0.172 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs368712847 1 NA A:0 A:0.0001 CGT G,A 2.471e-05 17:83014514 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 synonymous_variant 0.663287 0.82546 0.15983 0.706298 0.504245219890128 0 2.14222358700744e-11 FALSE 4.87417e-05 ENSE00001293589_031 ENSE00001293589 031 17 80972283 80972452 - 47 66 57 T G 80972394 3808 59 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCAGCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014517 83014518 83014518 exon 2 0.0303030303030303 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGCTGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 700 1049 1 0.956437169518703 0.978218584759351 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0159399185678267 0.143680382499224 0.99568088330765 0.898408434225826 NA 0.0798101505335253 NA FALSE NA 1 3.229 rs143059559 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000573629 4/5 rs143059559 1 NA G:0.0002 G:0 ATC T,G 8.237e-06 17:83014518 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 missense_variant 4.317255 0.87898 0.55075 0.706298 0.989049529512542 0 2.14222358700744e-11 FALSE 4.06167e-06 ENSE00001293589_032 ENSE00001293589 032 17 80972283 80972452 - 47 66 57 C T 80972396 3809 57 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCTTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014519 83014520 83014520 upstr_intron -1 0 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAAGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 372 580 0.0188282982812741 0.054131761539731 0.0364800299105026 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA -0.965231783150899 -0.758625025479748 0.99568088330765 0.898408434225826 NA -0.861928404315324 NA TRUE NA 1 3.149 . splice_acceptor_variant&non_coding_transcript_variant HIGH B3GNTL1 HGNC 21727 ENST00000573629 3/4 1 NA CCT C,T 8.237e-06 17:83014520 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 splice_acceptor_variant 3.320329 0.90909 0.56566 0.262962 0.976049178949202 0.958074 2.14222358700744e-11 FALSE 4.0618e-06 ENSE00001293589_033 ENSE00001293589 033 17 80972283 80972452 - 47 66 57 T G 80972397 3810 56 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCGGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014520 83014521 83014521 upstr_intron -2 -0.0175438596491228 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCCGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant 20 19 0 0 0 123 685 0.417837136322821 0.272261262621558 0.345049199472189 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 -0.998094654001279 -0.993267112614022 -0.566222945109352 -0.540495524397921 0.99568088330765 0.898408434225826 -0.99568088330765 -0.553359234753637 0.442321648554014 TRUE TRUE 1 3.229 . splice_acceptor_variant&non_coding_transcript_variant HIGH B3GNTL1 HGNC 21727 ENST00000573629 3/4 1 NA CTG T,G 7.413e-05 17:83014521 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 splice_acceptor_variant 2.854231 0.89983 0.5867 0.078448 0.953460269442483 0.790621 2.14222358700744e-11 FALSE 4.06197e-05 ENSE00001293589_034 ENSE00001293589 034 17 80972283 80972452 - 47 66 57 C G 80972409 3811 44 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAAGACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014532 83014533 83014533 upstr_intron -14 -0.228070175438596 TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTCTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 173 1180 1 0.965286986410977 0.982643493205488 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0159399185678267 0.152530199391498 0.99568088330765 0.898408434225826 NA 0.0842350589796623 NA FALSE NA 0.007 0.296 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 3/4 1 NA ACA C,G 8.237e-06 17:83014533 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.126064 0.19249 0.04336 0.078448 0.455034641913354 0.160546 2.14222358700744e-11 FALSE 4.0627e-06 ENSE00001293589_035 ENSE00001293589 035 17 80972283 80972452 - 47 66 57 G A 80972419 3812 34 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCATTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014542 83014543 83014543 upstr_intron -24 -0.403508771929825 TAGTCTATGCATCAATCAATGCAAACAAACAAATGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 423 112 0.999902670281292 0.980672228958924 0.990287449620108 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0158425888491186 0.167915441939445 0.99568088330765 0.898408434225826 NA 0.0918790153942816 NA FALSE NA 0 -1.885 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 3/4 1 NA CGT G,A 0.0002801 17:83014543 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.52241 0.14004 0.003 0.078448 0.688564045561652 0.0702023 2.14222358700744e-11 FALSE 0.000203222 ENSE00001293589_036 ENSE00001293589 036 17 80972283 80972452 - 47 66 57 T C 80972426 3813 27 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTCGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 83014549 83014550 83014550 upstr_intron -31 -0.526315789473684 TAGTCTATGCATCAATCAATGCAAACGAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 375 75 0.998119300812398 1 0.999059650406199 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0140592193802244 0.187243212980521 0.99568088330765 0.898408434225826 NA 0.100651216180373 NA FALSE NA 0.511 -0.012 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 3/4 rs551336142 1 NA TTG T,C 1.647e-05 17:83014550 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.115321 0.10076 0.01262 0.078448 0.38932080850276 0.0702023 2.14222358700744e-11 FALSE 1.6258e-05 ENSE00001293589_037 ENSE00001293589 037 17 80972283 80972452 - 47 66 57 T C 80972434 3814 19 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCACTGATTGATGCATAGACTA 83014406 83014576 83014557 83014558 83014558 upstr_intron -39 -0.666666666666667 TAGTCTATGCATCAATCAGTGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 281 417 0.998674412329135 0.999620549219476 0.999147480774306 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0146143308969615 0.186863762199997 0.99568088330765 0.898408434225826 NA 0.100739046548479 NA FALSE NA 0.106 0.096 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 3/4 1 NA ATT T,C 3.295e-05 17:83014558 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant -0.517364 0.05669 0.00324 0.078448 0.104195865380259 0.119107 2.14222358700744e-11 FALSE 2.03351e-05 ENSE00001293589_038 ENSE00001293589 038 17 80972283 80972452 - 47 66 57 T A 80972439 3815 14 GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTACGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCCTGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATAGATGCATAGACTA 83014406 83014576 83014562 83014563 83014563 upstr_intron -44 -0.754385964912281 TAGTCTATGCATCTATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC mutant NA NA NA NA NA 770 291 0.998602057835316 0.999324705040143 0.998963381437729 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 NA NA 0.0145419764031426 0.186567918020664 0.99568088330765 0.898408434225826 NA 0.100554947211903 NA FALSE NA 0.078 -0.051 . intron_variant&non_coding_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000573629 3/4 1 NA TTG T,A 8.237e-06 17:83014563 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003652301 intron_variant 0.326088 0.09974 0.00838 0.056701 0.197585983244686 0.115493 2.14222358700744e-11 FALSE 8.13762e-06 ENSE00001293589_BRK ENSE00001293589 BRK 17 80972283 80972452 - 47 66 57 A,G; T,T NA NA NA GTAATTTCACTAAAGGTAGTAACGACACTAAGGAGGCCAGTACTTGGGCTCGACGGGTGCTGAACGGCAGCCTCGTGTTGCAGCCTCACCCGCTGGGGCATCATGACGTCATCAAGCAGTAAAGAACACACTTTCCGTTTGTTTGTTTGCATTGATTGATGCATAGACTA 83014406 83014576 NA NA NA NA NA NA TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCTTGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCCCAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC TAGTCTATGCATCAATCAATGCAAACAAACAAACGGAAAGTGTGTTCTTTACTGCAGGATGACGTCATGATGCCCCAGCGGGTGAGGCTGCAACACGAGGCTGCCGTTCAGCACCCGTCGAGCGTAAGTACTGGCCTCCTTAGTGTCGTTACTACCTTTAGTGAAATTAC control 23 40 0 0 0 1863 426 0.00438455042023788 0.0428364086505085 0.0236104795353732 0.998094654001279 0.993267112614022 0.984060081432173 0.812756787019479 -0.998094654001279 -0.993267112614022 -0.979675531011935 -0.769920378368971 0.99568088330765 0.898408434225826 -0.99568088330765 -0.874797954690453 0.120882928617198 TRUE TRUE NA NA NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA ENSG00000175711 ENSE00003652301 NA NA NA NA NA NA NA 2.14222358700744e-11 FALSE NA ENSE00001294091_000 ENSE00001294091 000 1 32694283 32694452 + 45 90 35 NA NA NA NA NA CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT 32228681 32228851 NA NA NA NA NA NA CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT natural 295 117 0.528127695484397 0.503283053805266 0.515705374644831 233 1235 0.997358711316412 0.998452217229219 0.997905464272815 0.528127695484397 0.503283053805266 0.997358711316412 0.998452217229219 0 0 0 0 0.515705374644831 0.997905464272815 0 0 0 FALSE FALSE NA NA NA NA NA MTMR9LP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF3I NA NA NA ENSG00000084623 ENSE00003501085 NA NA NA NA NA NA NA 0.417329824985689 FALSE NA ENSE00001294091_005 ENSE00001294091 005 1 32694283 32694452 + 45 90 35 C T 32694307 1149 25 CCAGGAAAGCTCTTTACAGATTTCTCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT 32228681 32228851 32228705 32228706 32228706 upstr_intron -21 -0.444444444444444 CCAGGAAAGCTCTTTACAGATTTCTCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT mutant NA NA NA NA NA 23 552 0.95 1 0.975 0.528127695484397 0.503283053805266 0.997358711316412 0.998452217229219 NA NA -0.0473587113164126 0.00154778277078149 0.515705374644831 0.997905464272815 NA -0.0229054642728155 NA FALSE NA 0 -0.812 . downstream_gene_variant MODIFIER MTMR9LP HGNC 27920 ENST00000403496 1 NA CCC C,T 1.647e-05 1:32228706 EIF3I HGNC Symbol protein_coding 9676 ENSG00000084623 ENSE00003501085 intron_variant 0.340562 0.48866 0.09545 0.256867 0.576014240737033 0.0717938 0.417329824985689 FALSE 8.14438e-06 ENSE00001294091_006 ENSE00001294091 006 1 32694283 32694452 + 45 90 35 C G 32694320 1150 38 CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTGTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT 32228681 32228851 32228718 32228719 32228719 upstr_intron -8 -0.155555555555556 CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTGTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT mutant 24 40 0.85 0.85 0.85 NA NA NA NA NA 0.528127695484397 0.503283053805266 0.997358711316412 0.998452217229219 0.321872304515603 0.346716946194734 NA NA 0.515705374644831 0.997905464272815 0.334294625355169 NA NA NA FALSE 0.001 0.36 . downstream_gene_variant MODIFIER MTMR9LP HGNC 27920 ENST00000403496 rs371190286 1 NA G:0.0002 G:0 TCT C,G 8.236e-06 1:32228719 EIF3I HGNC Symbol protein_coding 9676 ENSG00000084623 ENSE00003501085 splice_region_variant 0.3367 0.34343 0.43867 0.256867 0.662888208778822 0.199958 0.417329824985689 FALSE NA ENSE00001294091_014 ENSE00001294091 014 1 32694283 32694452 + 45 90 35 T G 32694381 1158 99 CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCGGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT 32228681 32228851 32228779 32228780 32228780 exon -37 0.6 CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCGGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT mutant 19 24 0.85 0.85 0.85 10 35 1 0.8 0.9 0.528127695484397 0.503283053805266 0.997358711316412 0.998452217229219 0.321872304515603 0.346716946194734 0.00264128868358759 -0.198452217229218 0.515705374644831 0.997905464272815 0.334294625355169 -0.0979054642728154 0.432200089627984 FALSE FALSE 0 -9.147 . downstream_gene_variant MODIFIER MTMR9LP HGNC 27920 ENST00000403496 1 NA CTG T,G 3.295e-05 1:32228780 EIF3I HGNC Symbol protein_coding 9676 ENSG00000084623 ENSE00003501085 synonymous_variant 0.383232 0.17687 0.06256 0.706548 0.653447434406523 0 0.417329824985689 FALSE 2.03098e-05 ENSE00001294091_024 ENSE00001294091 024 1 32694283 32694452 + 45 90 35 G A 32694424 1168 142 CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAAAACCCCACCTGCCTTCCTGCTGAAGCCT 32228681 32228851 32228822 32228823 32228823 downstr_intron 7 1.20588235294118 CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAAAACCCCACCTGCCTTCCTGCTGAAGCCT CCAGGAAAGCTCTTTACAGATTTCCCCCCTGCCTTCTCTCTCCAGCTTTTTGACTCCACAACTCTTGAACATCAGAAGACTTTCCGGACAGAACGTCCTGTCAACTCAGCTGCCCTCTCCCCCAACTATGACCATGTAAGAGAACCCCACCTGCCTTCCTGCTGAAGCCT mutant NA NA NA NA NA 190 15 0.999565999580588 1 0.999782999790294 0.528127695484397 0.503283053805266 0.997358711316412 0.998452217229219 NA NA 0.00220728826417604 0.00154778277078149 0.515705374644831 0.997905464272815 NA 0.00187753551747877 NA FALSE NA 0.107 1.238 . downstream_gene_variant MODIFIER MTMR9LP HGNC 27920 ENST00000403496 rs575806880 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 AGA G,A 0.000173 1:32228823 EIF3I HGNC Symbol protein_coding 9676 ENSG00000084623 ENSE00003501085 splice_region_variant 0.855334 0.64718 0.84853 0.069865 0.642590577289783 0.389519 0.417329824985689 FALSE 0.00013471 ENSE00001294531_000 ENSE00001294531 000 11 76987156 76987325 - 50 60 60 NA NA NA NA NA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 NA NA NA NA NA NA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA natural 74 60 0.999538259430875 0.998368813012087 0.998953536221481 1247 2224 0.998361772587849 0.987258415439798 0.992810094013824 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 0 0 0 0 0.998953536221481 0.992810094013824 0 0 0 FALSE FALSE NA NA NA NA NA GDPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GDPD4 NA NA NA ENSG00000178795 ENSE00003459525 NA NA NA NA NA NA NA 9.33225882341034e-09 FALSE NA ENSE00001294531_001 ENSE00001294531 001 11 76987156 76987325 - 50 60 60 G A 76987170 2187 156 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACTAGGACTGAACCTTA 77276110 77276280 77276124 77276125 77276125 downstr_intron 36 1.73469387755102 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACTAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 384 36 0.997836665648749 1 0.998918332824374 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA -0.000525106939100239 0.0127415845602019 0.998953536221481 0.992810094013824 NA 0.00610823881055084 NA FALSE NA 0.001 0.558 . intron_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 4/4 1 NA TGG G,A 2.471e-05 11:77276125 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 intron_variant 0.549958 0.11889 0.07141 0.061011 0.649907563503064 0.0424088 9.33225882341034e-09 FALSE 1.6257e-05 ENSE00001294531_003 ENSE00001294531 003 11 76987156 76987325 - 50 60 60 G A 76987178 2189 148 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAATCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276132 77276133 77276133 downstr_intron 28 1.57142857142857 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAATCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 100 45 1 1 1 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA 0.00163822741215103 0.0127415845602019 0.998953536221481 0.992810094013824 NA 0.00718990598617647 NA FALSE NA 0 0.139 . intron_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 4/4 rs375884855 1 NA GGT G,A 1.647e-05 11:77276133 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 intron_variant 0.821543 0.16049 0.02682 0.061011 0.701482354951252 0.0424088 9.33225882341034e-09 FALSE 1.62507e-05 ENSE00001294531_004 ENSE00001294531 004 11 76987156 76987325 - 50 60 60 T C 76987180 2190 146 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAGACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276134 77276135 77276135 downstr_intron 26 1.53061224489796 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAGACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 19 121 1 1 1 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA 0.00163822741215103 0.0127415845602019 0.998953536221481 0.992810094013824 NA 0.00718990598617647 NA FALSE NA 0 -0.108 . intron_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 4/4 1 NA TTT T,C 8.236e-06 11:77276135 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 intron_variant 0.457972 0.1272 0.00067 0.061011 0.814725422124145 0.0424088 9.33225882341034e-09 FALSE 4.0623e-06 ENSE00001294531_006 ENSE00001294531 006 11 76987156 76987325 - 50 60 60 A G 76987185 2192 141 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACACAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276139 77276140 77276140 downstr_intron 21 1.42857142857143 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACACAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 196 1162 1 0.99877308545159 0.999386542725795 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA 0.00163822741215103 0.0115146700117918 0.998953536221481 0.992810094013824 NA 0.00657644871197144 NA FALSE NA 0 -0.309 . intron_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 4/4 1 NA TAT A,G 8.236e-06 11:77276140 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 intron_variant 0.03185 0.16159 0.03492 0.061011 0.490070669203376 0.0424088 9.33225882341034e-09 FALSE 4.062e-06 ENSE00001294531_007 ENSE00001294531 007 11 76987156 76987325 - 50 60 60 T C 76987186 2193 140 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACGTAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276140 77276141 77276141 downstr_intron 20 1.40816326530612 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACGTAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 180 404 1 1 1 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA 0.00163822741215103 0.0127415845602019 0.998953536221481 0.992810094013824 NA 0.00718990598617647 NA FALSE NA 0 -0.256 rs73499559 intron_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 4/4 rs73499559 1 C:0.0469 C:0.1755 C:0.0014 NA C:0 C:0.002 C:0 C:0.1291 C:0.0009 ATG T,C 0.012 11:77276141 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 intron_variant -0.269548 0.15617 0.04105 0.061011 0.417784206972666 0.0424088 9.33225882341034e-09 FALSE 0.00990698 ENSE00001294531_008 ENSE00001294531 008 11 76987156 76987325 - 50 60 60 C G 76987213 2194 113 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTCTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276167 77276168 77276168 exon -8 0.883333333333333 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTCTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 636 261 0.990576027969433 0.988761029383058 0.989668528676245 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA -0.00778574461841597 0.00150261394325968 0.998953536221481 0.992810094013824 NA -0.00314156533757814 NA FALSE NA 0.145 -0.726 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 4/5 1 NA ACA C,G 4.118e-05 11:77276168 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 missense_variant 0.379481 0.91684 0.06936 0.487112 0.684295305530164 0 9.33225882341034e-09 FALSE 2.43661e-05 ENSE00001294531_010 ENSE00001294531 010 11 76987156 76987325 - 50 60 60 G A 76987224 2196 102 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATATCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276178 77276179 77276179 exon -19 0.7 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATATCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 316 223 0.996587825442977 1 0.998293912721489 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA -0.00177394714487167 0.0127415845602019 0.998953536221481 0.992810094013824 NA 0.00548381870766512 NA FALSE NA 0 -1.419 NA NA NA GDPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:77276179 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 synonymous_variant 0.680922 0.30901 0.01521 0.487112 0.392848817702005 0 9.33225882341034e-09 FALSE 7.71617e-05 ENSE00001294531_016 ENSE00001294531 016 11 76987156 76987325 - 50 60 60 C T 76987259 2202 67 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTAGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276213 77276214 77276214 exon 7 0.116666666666667 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTAGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant 150 311 0 0 0 NA NA NA NA NA 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 -0.999538259430875 -0.998368813012087 NA NA 0.998953536221481 0.992810094013824 -0.998953536221481 NA NA NA TRUE 0.178 1.322 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 4/5 1 NA CCA C,T 8.236e-06 11:77276214 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 missense_variant 6.574076 0.9721 0.37623 0.487112 0.999273565121817 0 9.33225882341034e-09 FALSE 4.06207e-06 ENSE00001294531_017 ENSE00001294531 017 11 76987156 76987325 - 50 60 60 A G 76987277 2203 49 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTCTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276231 77276232 77276232 upstr_intron -12 -0.183333333333333 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTCTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 25 29 1 0.974058451750835 0.987029225875417 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA 0.00163822741215103 -0.0131999636889633 0.998953536221481 0.992810094013824 NA -0.00578086813840611 NA FALSE NA 0.497 2.397 . intron_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 3/4 1 NA AAA A,G 8.236e-06 11:77276232 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 intron_variant 2.242801 0.67949 0.75718 0.061011 0.916700077117299 0.762655 9.33225882341034e-09 FALSE 4.06316e-06 ENSE00001294531_019 ENSE00001294531 019 11 76987156 76987325 - 50 60 60 G A 76987288 2205 38 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTTTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276242 77276243 77276243 upstr_intron -23 -0.366666666666667 GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTTTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 89 109 1 1 1 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA 0.00163822741215103 0.0127415845602019 0.998953536221481 0.992810094013824 NA 0.00718990598617647 NA FALSE NA 0 -0.202 . intron_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 3/4 1 NA AGA G,A 1.647e-05 11:77276243 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 intron_variant 0.088348 0.11963 0.0199 0.061011 0.50126188449002 0.0778366 9.33225882341034e-09 FALSE NA ENSE00001294531_020 ENSE00001294531 020 11 76987156 76987325 - 50 60 60 T C 76987296 2206 30 GCTTTGGGTGGCAACTTGGTGATTTCAAAGTAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 77276250 77276251 77276251 upstr_intron -31 -0.5 GCTTTGGGTGGCAACTTGGTGATTTCAAAGTAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA mutant NA NA NA NA NA 97 18 0.99699176720042 1 0.99849588360021 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA -0.00137000538742893 0.0127415845602019 0.998953536221481 0.992810094013824 NA 0.00568578958638649 NA FALSE NA 0.419 0.481 . intron_variant&non_coding_transcript_variant MODIFIER GDPD4 HGNC 24849 ENST00000527489 3/4 1 NA ATT T,C 8.236e-06 11:77276251 GDPD4 HGNC Symbol protein_coding 85129 ENSG00000178795 ENSE00003459525 intron_variant 0.985686 0.98155 0.60496 0.061011 0.79830457403033 0.933434 9.33225882341034e-09 FALSE 2.85195e-05 ENSE00001294531_BRK ENSE00001294531 BRK 11 76987156 76987325 - 50 60 60 A,G; T,T NA NA NA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCTTTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGCCAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA 77276110 77276280 NA NA NA NA NA NA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCTTTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGCCAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA GCTTTGGGTGGCAACTTGGTGATTTCAAAATAACTCTCTTTTTCTTCTTTGCTTTTGCAGTTACTTGGATTTTTGTTGCTTTGGGAAAGGATTGAACTATACCTGCACTTGTGTCATAAGGTAGGACATCTGAGTCCACATAGGAAACCTTAGACCAGGACTGAACCTTA control NA NA NA NA NA 267 152 0 0.00546745349938102 0.00273372674969051 0.999538259430875 0.998368813012087 0.998361772587849 0.987258415439798 NA NA -0.998361772587849 -0.981790961940417 0.998953536221481 0.992810094013824 NA -0.990076367264133 NA TRUE NA NA NA NA NA NA GDPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GDPD4 NA NA NA ENSG00000178795 ENSE00003459525 NA NA NA NA NA NA NA 9.33225882341034e-09 FALSE NA ENSE00001294794_000 ENSE00001294794 000 20 8351973 8352142 + 56 69 45 NA NA NA NA NA AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 NA NA NA NA NA NA AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG natural 143 129 0.990307986928479 0.995062158357319 0.992685072642899 5756 9153 0.963094984896352 0.964975670431251 0.964035327663802 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 0 0 0 0 0.992685072642899 0.964035327663802 0 0 0 FALSE FALSE NA NA NA NA NA PLCB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLCB1 NA NA NA ENSG00000182621 ENSE00001294794 NA NA NA NA NA NA NA 0.979044816094075 TRUE NA ENSE00001294794_001 ENSE00001294794 001 20 8351973 8352142 + 56 69 45 T C 8351988 194 16 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGGCCTTTCCTCTTTGTT 8371325 8371495 8371340 8371341 8371341 upstr_intron -41 -0.714285714285714 AACAAAGAGGAAAGGCCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 477 1922 0.998349137185626 0.987827335221915 0.993088236203771 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0352541522892738 0.0228516647906639 0.992685072642899 0.964035327663802 NA 0.0290529085399688 NA FALSE NA 0.002 0.434 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 1 NA GTC T,C 8.237e-06 20:8371341 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.130979 0.20934 0.05284 0.053691 0.368851292375831 0.0689857 0.979044816094075 TRUE 4.30994e-06 ENSE00001294794_002 ENSE00001294794 002 20 8351973 8352142 + 56 69 45 C T 8351995 195 23 AACAAAGAGGAAAGGTCTGTGTTGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 8371347 8371348 8371348 upstr_intron -34 -0.589285714285714 AACAAAGAGGAAAGGTCTGTGTTGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 246 462 0.996241063761201 0.995598223835093 0.995919643798147 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0331460788648488 0.030622553403842 0.992685072642899 0.964035327663802 NA 0.0318843161343454 NA FALSE NA 0 0.179 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 1 NA TCG C,T 2.471e-05 20:8371348 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.068345 0.19769 0.02826 0.053691 0.706016311675551 0.0689857 0.979044816094075 TRUE 8.49849e-06 ENSE00001294794_003 ENSE00001294794 003 20 8351973 8352142 + 56 69 45 G A 8351996 196 24 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAATGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371348 8371349 8371349 upstr_intron -33 -0.571428571428571 AACAAAGAGGAAAGGTCTGTGTCATTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 1274 487 0.915227801022832 0.997967137853482 0.956597469438157 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA -0.0478671838735205 0.0329914674222312 0.992685072642899 0.964035327663802 NA -0.00743785822564463 NA FALSE NA 0.012 0.116 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 rs201308201 1 A:0.0004 A:0.0008 A:0.0014 NA A:0 A:0 A:0 A:0.0011 A:0.0001 CGT G,A 0.0002553 20:8371349 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.004023 0.1815 0.05771 0.053691 0.693503966529946 0.0689857 0.979044816094075 TRUE 0.000322206 ENSE00001294794_004 ENSE00001294794 004 20 8351973 8352142 + 56 69 45 T C 8351997 197 25 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAGCGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371349 8371350 8371350 upstr_intron -32 -0.553571428571429 AACAAAGAGGAAAGGTCTGTGTCGCTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 1641 1207 0.994496590443181 1 0.99724829522159 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0314016055468282 0.0350243295687489 0.992685072642899 0.964035327663802 NA 0.0332129675577886 NA FALSE NA 0.028 0.145 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 rs564585161 1 C:0.0006 C:0 C:0 NA C:0 C:0 C:0.0031 GTT T,C 0.0004283 20:8371350 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.102971 0.18063 0.0375 0.053691 0.43706998176333 0.0689857 0.979044816094075 TRUE 0.000307822 ENSE00001294794_005 ENSE00001294794 005 20 8351973 8352142 + 56 69 45 C G 8352000 198 28 AACAAAGAGGAAAGGTCTGTGTCGTTGGTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 8371352 8371353 8371353 upstr_intron -29 -0.5 AACAAAGAGGAAAGGTCTGTGTCGTTGGTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 481 2274 0.998082922208841 0.998067028592894 0.998074975400868 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0349879373124891 0.0330913581616424 0.992685072642899 0.964035327663802 NA 0.0340396477370657 NA FALSE NA 0.252 0.541 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 1 NA GCT C,G 8.237e-06 20:8371353 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.187694 0.24367 0.26684 0.053691 0.418310837365032 0.0699399 0.979044816094075 TRUE 4.21635e-06 ENSE00001294794_006 ENSE00001294794 006 20 8351973 8352142 + 56 69 45 C T 8352005 199 33 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAATGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 8371357 8371358 8371358 upstr_intron -24 -0.410714285714286 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAATGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 2003 873 0.994112093252393 0.99791936583597 0.996015729544181 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0310171083560402 0.0329436954047186 0.992685072642899 0.964035327663802 NA 0.0319804018803794 NA FALSE NA 0 -0.53 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 rs578135710 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG T,T 3.295e-05 20:8371358 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.012887 0.14701 0.00273 0.084033 0.552746319765003 0.0699399 0.979044816094075 TRUE 5.46577e-05 ENSE00001294794_007 ENSE00001294794 007 20 8351973 8352142 + 56 69 45 G A 8352006 200 34 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATTGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371358 8371359 8371359 upstr_intron -23 -0.392857142857143 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACAATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 2793 384 0.962128878099658 0.990884473566648 0.976506675833153 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA -0.00096610679669451 0.0259088031353968 0.992685072642899 0.964035327663802 NA 0.0124713481693511 NA FALSE NA 0 -0.428 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 rs374048230 1 NA A:0.0002 A:0 CGA G,A 8.237e-06 20:8371359 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.025652 0.10688 0.00347 0.084033 0.566939335904015 0.0699399 0.979044816094075 TRUE 1.2578e-05 ENSE00001294794_009 ENSE00001294794 009 20 8351973 8352142 + 56 69 45 G A 8352014 202 42 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAATGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371366 8371367 8371367 upstr_intron -15 -0.25 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACATTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 972 2469 0.99609262082371 0.999567241562364 0.997829931193037 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.032997635927358 0.0345915711311129 0.992685072642899 0.964035327663802 NA 0.0337946035292355 NA FALSE NA 0 -0.367 rs6055775 intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 rs6055775 1 A:0.0126 A:0.0477 A:0 NA A:0 A:0 A:0 A:0.0418 A:0.0001 CGT G,A 0.003748 20:8371367 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant -0.260049 0.08596 0.00083 0.084033 0.598161956906385 0.0794606 0.979044816094075 TRUE 0.00287586 ENSE00001294794_010 ENSE00001294794 010 20 8351973 8352142 + 56 69 45 T C 8352015 203 43 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAGCGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371367 8371368 8371368 upstr_intron -14 -0.232142857142857 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGCTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 1416 462 0.928358337728266 0.998754736969028 0.963556537348647 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA -0.0347366471680866 0.0337790665377765 0.992685072642899 0.964035327663802 NA -0.00047879031515502 NA FALSE NA 0.375 0.276 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 2/32 1 NA GTT T,C 8.236e-06 20:8371368 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 1.606277 0.59176 0.21531 0.084033 0.733490884545201 0.18726 0.979044816094075 TRUE 4.15351e-06 ENSE00001294794_011 ENSE00001294794 011 20 8351973 8352142 + 56 69 45 C A 8352025 204 53 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGTAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371377 8371378 8371378 upstr_intron -4 -0.0535714285714286 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTACAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 523 309 1 1 1 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0369050151036476 0.0350243295687489 0.992685072642899 0.964035327663802 NA 0.0359646723361983 NA FALSE NA 0.973 -0.228 . splice_region_variant&intron_variant LOW PLCB1 HGNC 15917 ENST00000378641 2/32 1 NA TCC C,A 2.471e-05 20:8371378 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 splice_region_variant 2.008085 0.96493 0.70241 0.084033 0.778452452585283 0.391234 0.979044816094075 TRUE 8.19672e-06 ENSE00001294794_013 ENSE00001294794 013 20 8351973 8352142 + 56 69 45 C T 8352033 206 61 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGATAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 8371385 8371386 8371386 exon 5 0.072463768115942 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGATAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 286 339 0.975040364257277 0.999775160142105 0.987407762199691 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0119453793609242 0.0347994897108537 0.992685072642899 0.964035327663802 NA 0.0233724345358889 NA FALSE NA 0.998 4.37 . missense_variant MODERATE PLCB1 HGNC 15917 ENST00000378641 3/33 1 tolerated(0.18) benign(0.299) NA ACA C,T 8.236e-06 20:8371386 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 missense_variant 3.191481 0.98726 0.91686 0.615465 0.995610816724586 0 0.979044816094075 TRUE 4.07927e-06 ENSE00001294794_014 ENSE00001294794 014 20 8351973 8352142 + 56 69 45 G A 8352037 207 65 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGTTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371389 8371390 8371390 exon 9 0.130434782608696 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAACTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 290 2929 1 0.995646536202092 0.997823268101046 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0369050151036476 0.0306708657708411 0.992685072642899 0.964035327663802 NA 0.0337879404372444 NA FALSE NA 1 1.651 . synonymous_variant LOW PLCB1 HGNC 15917 ENST00000378641 3/33 1 NA AGC G,A 2.471e-05 20:8371390 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 synonymous_variant 1.032443 0.96737 0.7639 0.615465 0.630713191100985 0 0.979044816094075 TRUE 1.22233e-05 ENSE00001294794_015 ENSE00001294794 015 20 8351973 8352142 + 56 69 45 G A 8352051 208 79 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGTTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371403 8371404 8371404 exon 23 0.333333333333333 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAACCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 413 239 0.998495662715579 1 0.999247831357789 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0354006778192262 0.0350243295687489 0.992685072642899 0.964035327663802 NA 0.0352125036939875 NA FALSE NA 1 5.542 . missense_variant MODERATE PLCB1 HGNC 15917 ENST00000378641 3/33 1 tolerated(0.07) benign(0.108) NA AGC G,A 8.236e-06 20:8371404 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 missense_variant 2.889457 0.98592 0.9246 0.615465 0.99481008089189 0 0.979044816094075 TRUE 4.06742e-06 ENSE00001294794_016 ENSE00001294794 016 20 8351973 8352142 + 56 69 45 T C 8352064 209 92 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCGTCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371416 8371417 8371417 exon -34 0.521739130434783 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGACGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 165 339 0.995939718211924 0.999065799099925 0.997502758655925 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0328447333155719 0.0340901286686737 0.992685072642899 0.964035327663802 NA 0.0334674309921228 NA FALSE NA 1 2.153 . synonymous_variant LOW PLCB1 HGNC 15917 ENST00000378641 3/33 1 NA ATG T,C 3.295e-05 20:8371417 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 synonymous_variant 0.27382 0.97363 0.74651 0.615465 0.650292996054741 0 0.979044816094075 TRUE 2.03384e-05 ENSE00001294794_017 ENSE00001294794 017 20 8351973 8352142 + 56 69 45 G C 8352076 210 104 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGCAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 8371428 8371429 8371429 exon -22 0.695652173913043 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGCAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 865 1113 1 0.997956749196302 0.998978374598151 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0369050151036476 0.0329810787650506 0.992685072642899 0.964035327663802 NA 0.0349430469343491 NA FALSE NA 1 2.616 . synonymous_variant LOW PLCB1 HGNC 15917 ENST00000378641 3/33 1 NA GGA G,C 8.237e-06 20:8371429 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 synonymous_variant 0.762423 0.97924 0.8637 0.615465 0.776241518530455 0 0.979044816094075 TRUE 4.06805e-06 ENSE00001294794_018 ENSE00001294794 018 20 8351973 8352142 + 56 69 45 C T 8352082 211 110 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACATGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 8371434 8371435 8371435 exon -16 0.782608695652174 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACATGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 845 1700 0.997717908834387 0.999139266252201 0.998428587543294 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0346229239380348 0.0341635958209494 0.992685072642899 0.964035327663802 NA 0.0343932598794921 NA FALSE NA 0.96 -0.008 . synonymous_variant LOW PLCB1 HGNC 15917 ENST00000378641 3/33 COSM2149845&COSM2149846&COSM3405300 1 NA ACG C,T 1.647e-05 20:8371435 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 synonymous_variant 2.016697 0.92754 0.13069 0.615465 0.697434564730387 0 0.979044816094075 TRUE 3.66306e-05 ENSE00001294794_020 ENSE00001294794 020 20 8351973 8352142 + 56 69 45 C G 8352090 213 118 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGGTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 8371442 8371443 8371443 exon -8 0.898550724637681 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGGTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 679 701 0.943552373997087 0.999728091304521 0.971640232650804 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA -0.0195426108992656 0.0347524208732702 0.992685072642899 0.964035327663802 NA 0.00760490498700234 NA FALSE NA 1 4.37 . missense_variant MODERATE PLCB1 HGNC 15917 ENST00000378641 3/33 1 deleterious(0.04) benign(0.048) NA GCT C,G 8.237e-06 20:8371443 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 missense_variant 3.387803 0.98629 0.91215 0.615465 0.992356018067877 0 0.979044816094075 TRUE 8.1408e-06 ENSE00001294794_021 ENSE00001294794 021 20 8351973 8352142 + 56 69 45 G A 8352105 214 133 CAATCAAGGCAGCATCTGGTGCATGCACAACACTCAATCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371457 8371458 8371458 downstr_intron 8 1.18181818181818 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGATTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 914 368 0.988737450887887 0.994205296585732 0.99147137373681 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0256424659915349 0.0292296261544813 0.992685072642899 0.964035327663802 NA 0.0274360460730081 NA FALSE NA 0.09 0.337 . splice_region_variant&intron_variant LOW PLCB1 HGNC 15917 ENST00000378641 3/32 1 NA GGT G,A 8.237e-06 20:8371458 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 splice_region_variant 1.425926 0.90766 0.1456 0.084033 0.681848685900123 0.306993 0.979044816094075 TRUE 4.09682e-06 ENSE00001294794_022 ENSE00001294794 022 20 8351973 8352142 + 56 69 45 A G 8352109 215 137 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGGGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 8371461 8371462 8371462 downstr_intron 12 1.27272727272727 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGGGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 1042 1281 0.990799996846464 0.997342032484113 0.994071014665288 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0277050119501115 0.0323663620528617 0.992685072642899 0.964035327663802 NA 0.0300356870014866 NA FALSE NA 0 0.038 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 3/32 rs200984500 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0025 G:0 GAG A,G 0.000173 20:8371462 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.511304 0.17651 0.02223 0.084033 0.666897226911499 0.0705912 0.979044816094075 TRUE 0.000147879 ENSE00001294794_023 ENSE00001294794 023 20 8351973 8352142 + 56 69 45 T C 8352111 216 139 CAATCAAGGCAGCATCTGGTGCATGCACAACGCTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371463 8371464 8371464 downstr_intron 14 1.31818181818182 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGCGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 876 1205 0.981842725307104 0.997894211478487 0.989868468392796 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.018747740410752 0.0329185410472363 0.992685072642899 0.964035327663802 NA 0.0258331407289942 NA FALSE NA 0 -0.317 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 3/32 1 NA GTG T,C 8.237e-06 20:8371464 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.286048 0.14667 0.00409 0.084033 0.649914824598704 0.0705912 0.979044816094075 TRUE 4.1614e-06 ENSE00001294794_024 ENSE00001294794 024 20 8351973 8352142 + 56 69 45 G A 8352112 217 140 CAATCAAGGCAGCATCTGGTGCATGCACAATACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371464 8371465 8371465 downstr_intron 15 1.34090909090909 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTATTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 421 695 0.998326271617818 0.995421305493884 0.996873788555851 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0352312867214655 0.0304456350626324 0.992685072642899 0.964035327663802 NA 0.0328384608920489 NA FALSE NA 0 -2.606 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 3/32 1 NA TGT G,A 8.237e-06 20:8371465 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.025453 0.13653 0.00901 0.084033 0.396440511118739 0.0705912 0.979044816094075 TRUE 4.16112e-06 ENSE00001294794_025 ENSE00001294794 025 20 8351973 8352142 + 56 69 45 G A 8352115 218 143 CAATCAAGGCAGCATCTGGTGCATGCATAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371467 8371468 8371468 downstr_intron 18 1.40909090909091 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTATGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 255 1702 0.984507876898735 0.99937145118525 0.991939664041993 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0214128920023823 0.0343957807539993 0.992685072642899 0.964035327663802 NA 0.0279043363781908 NA FALSE NA 0 1 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 3/32 rs529499162 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGT G,A 8.237e-06 20:8371468 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.276471 0.22397 0.04881 0.084033 0.553190192862276 0.0705912 0.979044816094075 TRUE 4.19667e-06 ENSE00001294794_026 ENSE00001294794 026 20 8351973 8352142 + 56 69 45 T G 8352116 219 144 CAATCAAGGCAGCATCTGGTGCATGCCCAACACTCAACCTCCTACCTTGGGAGCTTTGGCGTGTCTCCCACATCTGGCATCTTTGACAAGGCTGAGATCCAGTAGCTCTGTCTCCTGGAAGGCAAAAACGTGAAATCGTTAAGCAACGACACAGACCTTTCCTCTTTGTT 8371325 8371495 8371468 8371469 8371469 downstr_intron 19 1.43181818181818 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGGGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 220 286 0.996968020857416 0.97838595246104 0.987676986659228 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0338730359610635 0.0134102820297884 0.992685072642899 0.964035327663802 NA 0.023641658995426 NA FALSE NA 0.003 0.724 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 3/32 1 NA GTG T,G 1.647e-05 20:8371469 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.466878 0.22816 0.07161 0.084033 0.657508130475974 0.0705912 0.979044816094075 TRUE 1.26821e-05 ENSE00001294794_027 ENSE00001294794 027 20 8351973 8352142 + 56 69 45 G T 8352121 220 149 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATTCACCAGATGCTGCCTTGATTG 8371325 8371495 8371473 8371474 8371474 downstr_intron 24 1.54545454545455 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATTCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 748 224 0.996830230877579 0.999293306033337 0.998061768455458 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0337352459812263 0.0343176356020863 0.992685072642899 0.964035327663802 NA 0.0340264407916563 NA FALSE NA 0 -2.547 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 3/32 rs374730353 1 NA T:0 T:0.0001 TGC G,T 0.0002389 20:8371474 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.284473 0.0996 0.00994 0.084033 0.703915500669818 0.202303 0.979044816094075 TRUE 0.000252082 ENSE00001294794_028 ENSE00001294794 028 20 8351973 8352142 + 56 69 45 A G 8352123 221 151 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCGCCAGATGCTGCCTTGATTG 8371325 8371495 8371475 8371476 8371476 downstr_intron 26 1.59090909090909 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCGCCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 560 1380 0.995429139816398 0.998045913688389 0.996737526752393 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0323341549200455 0.0330702432571379 0.992685072642899 0.964035327663802 NA 0.0327021990885917 NA FALSE NA 0.002 -0.052 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 3/32 rs547790493 1 G:0.0040 G:0 G:0 NA G:0 G:0 G:0.0204 CAC A,G 0.001656 20:8371476 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 0.948851 0.16965 0.02393 0.084033 0.708548513706616 0.15583 0.979044816094075 TRUE 0.00144487 ENSE00001294794_029 ENSE00001294794 029 20 8351973 8352142 + 56 69 45 C G 8352125 222 153 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACGAGATGCTGCCTTGATTG 8371325 8371495 8371477 8371478 8371478 downstr_intron 28 1.63636363636364 AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACGAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG mutant NA NA NA NA NA 914 878 0.999819758682813 0.997131875033647 0.99847581685823 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 NA NA 0.0367247737864606 0.0321562046023957 0.992685072642899 0.964035327663802 NA 0.0344404891944281 NA FALSE NA 0.883 2.022 . intron_variant MODIFIER PLCB1 HGNC 15917 ENST00000378641 3/32 1 NA CCA C,G 8.237e-06 20:8371478 PLCB1 HGNC Symbol protein_coding 891109 ENSG00000182621 ENSE00001294794 non_coding_transcript_exon_variant 1.401755 0.97513 0.85454 0.084033 0.686907128494666 0.268466 0.979044816094075 TRUE 4.30174e-06 ENSE00001294794_BRK ENSE00001294794 BRK 20 8351973 8352142 + 56 69 45 A,G; T,T NA NA NA AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCTTGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGCCAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG 8371325 8371495 NA NA NA NA NA NA AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCTTGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGCCAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG AACAAAGAGGAAAGGTCTGTGTCGTTGCTTAACGATTTCACGTTTTTGCCTTCCAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAAGATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGTAGGAGGTTGAGTGTTGTGCATGCACCAGATGCTGCCTTGATTG control 294 366 0.0133751355727262 0 0.0066875677863631 1138 467 0.0305831155996065 0 0.0152915577998032 0.990307986928479 0.995062158357319 0.963094984896352 0.964975670431251 -0.976932851355753 -0.995062158357319 -0.932511869296746 -0.964975670431251 0.992685072642899 0.964035327663802 -0.985997504856536 -0.948743769863998 0.0372537349925377 TRUE TRUE NA NA NA NA NA PLCB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLCB1 NA NA NA ENSG00000182621 ENSE00001294794 NA NA NA NA NA NA NA 0.979044816094075 TRUE NA ENSE00001294995_000 ENSE00001294995 000 20 19698115 19698284 + 57 66 47 NA NA NA NA NA TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 NA NA NA NA NA NA TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC natural 102 51 0.996697110241169 0.989950193848394 0.993323652044782 2295 3308 0.927298491504642 0.991953464550848 0.959625978027745 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 0 0 0 0 0.993323652044782 0.959625978027745 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A3 NA NA NA ENSG00000185052 ENSE00001294995 NA NA NA NA NA NA NA 0.959518180659547 TRUE NA ENSE00001294995_001 ENSE00001294995 001 20 19698115 19698284 + 57 66 47 G C 19698136 531 22 TAACTCTGCTTTGGAAGCCTACCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717491 19717492 19717492 upstr_intron -36 -0.614035087719298 TAACTCTGCTTTGGAAGCCTACCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 119 407 1 1 1 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0727015084953579 0.00804653544915201 0.993323652044782 0.959625978027745 NA 0.040374021972255 NA FALSE NA 0.009 -0.018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:19717492 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 intron_variant -0.66342 0.13985 0.00595 0.06567 0.440028473337489 0.0882499 0.959518180659547 TRUE 2.85637e-05 ENSE00001294995_002 ENSE00001294995 002 20 19698115 19698284 + 57 66 47 G A 19698136 532 22 TAACTCTGCTTTGGAAGCCTAACTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717491 19717492 19717492 upstr_intron -36 -0.614035087719298 TAACTCTGCTTTGGAAGCCTAACTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 50 246 0.996920851139949 1 0.998460425569974 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0696223596353065 0.00804653544915201 0.993323652044782 0.959625978027745 NA 0.0388344475422293 NA FALSE NA 0.009 -0.018 NA NA NA SLC24A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A3 NA NA NA ENSG00000185052 ENSE00001294995 intron_variant -0.312055 0.12278 0.00688 0.06567 0.382131628922056 0.0882499 0.959518180659547 TRUE 8.16107e-06 ENSE00001294995_003 ENSE00001294995 003 20 19698115 19698284 + 57 66 47 T G 19698138 533 24 TAACTCTGCTTTGGAAGCCTAGCGTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717493 19717494 19717494 upstr_intron -34 -0.578947368421053 TAACTCTGCTTTGGAAGCCTAGCGTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 173 2303 0.98825254521565 0.997893318918307 0.993072932066979 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0609540537110083 0.00593985436745881 0.993323652044782 0.959625978027745 NA 0.0334469540392335 NA FALSE NA 0.011 1.833 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 15/16 1 NA CTT T 8.236e-06 20:19717494 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 intron_variant 0.063925 0.22514 0.29366 0.06567 0.546319264644702 0.0871504 0.959518180659547 TRUE 4.07894e-06 ENSE00001294995_005 ENSE00001294995 005 20 19698115 19698284 + 57 66 47 A G 19698151 535 37 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTGACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717506 19717507 19717507 upstr_intron -21 -0.350877192982456 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTGACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 170 1700 1 0.987045182786596 0.993522591393298 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0727015084953579 -0.00490828176425229 0.993323652044782 0.959625978027745 NA 0.0338966133655528 NA FALSE NA 0.401 0.105 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 15/16 rs570893570 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TAA A 3.295e-05 20:19717507 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 intron_variant 0.188642 0.42089 0.35252 0.06567 0.87356853095479 0.0871504 0.959518180659547 TRUE 3.25531e-05 ENSE00001294995_006 ENSE00001294995 006 20 19698115 19698284 + 57 66 47 C T 19698175 536 61 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCTGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717530 19717531 19717531 exon 4 0.0606060606060606 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCTGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 166 329 0.98488959014517 1 0.992444795072585 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0575910986405275 0.00804653544915201 0.993323652044782 0.959625978027745 NA 0.0328188170448397 NA FALSE NA 0.064 0.956 rs139008250 missense_variant MODERATE SLC24A3 HGNC 10977 ENST00000328041 16/17 rs139008250 1 tolerated(0.15) possibly_damaging(0.848) NA T:0 T:0.0001 CCG C 2.471e-05 20:19717531 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 missense_variant 6.750217 0.97545 0.67698 0.632932 0.999101053217728 0 0.959518180659547 TRUE 1.62483e-05 ENSE00001294995_008 ENSE00001294995 008 20 19698115 19698284 + 57 66 47 G T 19698176 538 62 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCTGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717531 19717532 19717532 exon 5 0.0757575757575758 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCTGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 322 90 0.983028031059245 0.978250325333192 0.980639178196218 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0557295395546028 -0.0137031392176564 0.993323652044782 0.959625978027745 NA 0.0210132001684732 NA FALSE NA 0.167 3.105 NA NA NA SLC24A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:19717532 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 missense_variant 3.687769 0.98094 0.70312 0.632932 0.995675607590604 0 0.959518180659547 TRUE 8.12354e-06 ENSE00001294995_009 ENSE00001294995 009 20 19698115 19698284 + 57 66 47 A G 19698182 539 68 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAGTAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717537 19717538 19717538 exon 11 0.166666666666667 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAGTAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 417 87 0.998209929085858 0.998177783185233 0.998193856135545 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0709114375812158 0.00622431863438522 0.993323652044782 0.959625978027745 NA 0.0385678781078005 NA FALSE NA 1 9.052 . missense_variant MODERATE SLC24A3 HGNC 10977 ENST00000328041 16/17 rs374215999 1 tolerated(0.08) probably_damaging(0.941) NA G:0 G:0.0001 AAT A 8.236e-06 20:19717538 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 missense_variant 4.157143 0.99203 0.99754 0.632932 0.995778727279998 0 0.959518180659547 TRUE 8.12249e-06 ENSE00001294995_010 ENSE00001294995 010 20 19698115 19698284 + 57 66 47 G A 19698189 540 75 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGAGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717544 19717545 19717545 exon 18 0.272727272727273 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGAGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 562 1646 1 0.998266550910755 0.999133275455378 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0727015084953579 0.00631308635990735 0.993323652044782 0.959625978027745 NA 0.0395072974276326 NA FALSE NA 1 2.202 . synonymous_variant LOW SLC24A3 HGNC 10977 ENST00000328041 16/17 COSM1632206 1 NA GGG G 8.236e-06 20:19717545 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 synonymous_variant 1.141956 0.95962 0.4755 0.632932 0.643210157067773 0 0.959518180659547 TRUE 4.06134e-06 ENSE00001294995_011 ENSE00001294995 011 20 19698115 19698284 + 57 66 47 C T 19698201 541 87 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTATTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717556 19717557 19717557 exon 30 0.454545454545455 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTATTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 64 147 1 0.991835322176838 0.995917661088419 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0727015084953579 -0.000118142374009866 0.993323652044782 0.959625978027745 NA 0.036291683060674 NA FALSE NA 1 1.902 rs142376165 synonymous_variant LOW SLC24A3 HGNC 10977 ENST00000328041 16/17 rs142376165 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACT C 8.236e-06 20:19717557 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 synonymous_variant 1.108852 0.96384 0.81079 0.615465 0.510731880908204 0 0.959518180659547 TRUE NA ENSE00001294995_014 ENSE00001294995 014 20 19698115 19698284 + 57 66 47 C T 19698234 544 120 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTTACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717589 19717590 19717590 exon -4 0.954545454545455 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTTACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 57 474 0.964775680792274 1 0.982387840396137 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0374771892876316 0.00804653544915201 0.993323652044782 0.959625978027745 NA 0.0227618623683918 NA FALSE NA 1 3.138 rs144707289 synonymous_variant LOW SLC24A3 HGNC 10977 ENST00000328041 16/17 rs144707289 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0003 TCA C 4.118e-05 20:19717590 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 synonymous_variant 1.26784 0.97921 0.96578 0.615465 0.756001460708656 0 0.959518180659547 TRUE 2.43659e-05 ENSE00001294995_017 ENSE00001294995 017 20 19698115 19698284 + 57 66 47 C T 19698259 547 145 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTTGTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717614 19717615 19717615 downstr_intron 22 1.47826086956522 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTTGTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 190 344 1 1 1 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0727015084953579 0.00804653544915201 0.993323652044782 0.959625978027745 NA 0.040374021972255 NA FALSE NA 0 -0.085 rs183638900 intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 16/16 rs183638900 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TCG C 0.0001483 20:19717615 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 intron_variant 0.318139 0.20372 0.14459 0.06567 0.40401413956623 0.510957 0.959518180659547 TRUE 0.000117792 ENSE00001294995_018 ENSE00001294995 018 20 19698115 19698284 + 57 66 47 G T 19698260 548 146 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCTTACTTGTGTTTGCCTGTTCTTTCC 19717470 19717640 19717615 19717616 19717616 downstr_intron 23 1.5 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCTTACTTGTGTTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 264 165 0.992285898329198 0.999769019255949 0.996027458792573 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0649874068245561 0.00781555470510098 0.993323652044782 0.959625978027745 NA 0.0364014807648285 NA FALSE NA 0 -0.01 NA NA NA SLC24A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:19717616 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 intron_variant -0.8592 0.03907 0.01455 0.06567 0.536501017720349 0.0504749 0.959518180659547 TRUE 0.000946462 ENSE00001294995_020 ENSE00001294995 020 20 19698115 19698284 + 57 66 47 T G 19698269 550 155 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGGTTGCCTGTTCTTTCC 19717470 19717640 19717624 19717625 19717625 downstr_intron 32 1.69565217391304 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGGTTGCCTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 148 119 1 0.979936022470776 0.989968011235388 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0727015084953579 -0.0120174420800718 0.993323652044782 0.959625978027745 NA 0.0303420332076431 NA FALSE NA 0.002 1.778 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 16/16 1 NA GTT T 8.236e-06 20:19717625 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 intron_variant 0.099214 0.18815 0.32126 0.06567 0.325733696015951 0.0533219 0.959518180659547 TRUE 8.12651e-06 ENSE00001294995_021 ENSE00001294995 021 20 19698115 19698284 + 57 66 47 C T 19698274 551 160 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCTTGTTCTTTCC 19717470 19717640 19717629 19717630 19717630 downstr_intron 37 1.80434782608696 TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCTTGTTCTTTCC TAACTCTGCTTTGGAAGCCTAGCTTGTCAGAAGCCTAACTCTAACCCTCTCTTACAGATCCGGCTGAATAGCAGGGGGCTGATCTACTCCGTAGGCTTGCTCCTGGCCTCTGTTTTTGTCACGGTAGGTTGGCAGCTCTCTCCTCGTACTTGTGTTTGCCTGTTCTTTCC mutant NA NA NA NA NA 119 585 1 1 1 0.996697110241169 0.989950193848394 0.927298491504642 0.991953464550848 NA NA 0.0727015084953579 0.00804653544915201 0.993323652044782 0.959625978027745 NA 0.040374021972255 NA FALSE NA 0 -1.351 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 16/16 1 NA CCT C 8.236e-06 20:19717630 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001294995 intron_variant -0.034212 0.11386 0.00603 0.06567 0.509377934113271 0.0692697 0.959518180659547 TRUE 4.06494e-06 ENSE00001295053_000 ENSE00001295053 000 7 120381546 120381715 + 42 96 32 NA NA NA NA NA GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 NA NA NA NA NA NA GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT natural 325 327 0.996763183065792 0.993196139198637 0.994979661132214 16377 17415 0.966879728527646 0.912177262717995 0.939528495622821 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 0 0 0 0 0.994979661132214 0.939528495622821 0 0 0 FALSE FALSE NA NA NA NA NA KCND2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCND2 NA NA NA ENSG00000184408 ENSE00001295053 NA NA NA NA NA NA NA 0.980460832264043 TRUE NA ENSE00001295053_001 ENSE00001295053 001 7 120381546 120381715 + 42 96 32 G C 120381557 2323 12 GATTTATAAATCTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 120741502 120741503 120741503 upstr_intron -31 -0.714285714285714 GATTTATAAATCTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 670 679 0.925474347666887 0.950523857308029 0.937999102487458 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA -0.0414053808607588 0.0383465945900338 0.994979661132214 0.939528495622821 NA -0.00152939313536254 NA FALSE NA 0 -0.116 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1 NA TGT G,C 8.241e-06 7:120741503 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 intron_variant -0.297617 0.28315 0.1144 0.078448 0.424096286780088 0.0828266 0.980460832264043 TRUE NA ENSE00001295053_002 ENSE00001295053 002 7 120381546 120381715 + 42 96 32 T A 120381562 2324 17 AACATTAAAAAAAGAGATGTAATTGATTGTACCTGCAGCTGATTACTGAGTAAACCATTCCGTTTGCTCTGCATGTAAGCATTTGCGCTTCCGCTTTTGGCTGCCCGGATCCTGGCCAGTCTAGCTTTCTATAGGAGAAAAAATAAACATCCCTTTAACATTTATAAATC 120741491 120741661 120741507 120741508 120741508 upstr_intron -26 -0.595238095238095 GATTTATAAATGTTAAAGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 376 1810 1 0.998015399437667 0.999007699718833 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0331202714723541 0.0858381367196712 0.994979661132214 0.939528495622821 NA 0.0594792040960127 NA FALSE NA 0 -0.2 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1 NA ATG T,A 1.648e-05 7:120741508 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 intron_variant 0.514678 0.23789 0.11704 0.078448 0.411435864690595 0.135358 0.980460832264043 TRUE 8.18264e-06 ENSE00001295053_003 ENSE00001295053 003 7 120381546 120381715 + 42 96 32 T A 120381567 2325 22 AACATTAAAAAAAGAGATGTAATTGATTGTACCTGCAGCTGATTACTGAGTAAACCATTCCGTTTGCTCTGCATGTAAGCATTTGCGCTTCCGCTTTTGGCTGCCCGGATCCTGGCCAGTCTAGCTTTCTATAGGAGAAAAAATAAACTTCCCATTAACATTTATAAATC 120741491 120741661 120741512 120741513 120741513 upstr_intron -21 -0.476190476190476 GATTTATAAATGTTAATGGGAAGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 1037 606 0.996217315534459 0.993609750503287 0.994913533018873 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0293375870068134 0.0814324877852912 0.994979661132214 0.939528495622821 NA 0.0553850373960523 NA FALSE NA 0 -0.443 rs116565037 upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 rs116565037 1 A:0.0036 A:0.0129 A:0.0014 NA A:0 A:0 A:0 A:0.0082 A:0 ATG T,A 0.000824 7:120741513 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 intron_variant 0.356447 0.27932 0.1363 0.078448 0.361574151901516 0.135977 0.980460832264043 TRUE 0.00069495 ENSE00001295053_004 ENSE00001295053 004 7 120381546 120381715 + 42 96 32 T C 120381583 2326 38 AACATTAAAAAAAGAGATGTAATTGATTGTACCTGCAGCTGATTACTGAGTAAACCATTCCGTTTGCTCTGCATGTAAGCATTTGCGCTTCCGCTTTTGGCTGCCCGGATCCTGGCCAGTCTAGCTTTCTATGGGAGAAAAAATAAACATCCCATTAACATTTATAAATC 120741491 120741661 120741528 120741529 120741529 upstr_intron -5 -0.0952380952380952 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCCATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 457 1133 1 0.998115216589955 0.999057608294977 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0331202714723541 0.0859379538719592 0.994979661132214 0.939528495622821 NA 0.0595291126721567 NA FALSE NA 0 -0.523 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1 NA CTA T,C 8.239e-06 7:120741529 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 splice_region_variant 0.430587 0.2905 0.08283 0.078448 0.614882114707082 0.228881 0.980460832264043 TRUE 1.22401e-05 ENSE00001295053_005 ENSE00001295053 005 7 120381546 120381715 + 42 96 32 A G 120381584 2327 39 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTGTAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 120741529 120741530 120741530 upstr_intron -4 -0.0714285714285714 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTGTAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 2861 858 0.866279352435141 0.99741059735839 0.931844974896765 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA -0.100600376092505 0.0852333346403947 0.994979661132214 0.939528495622821 NA -0.00768352072605522 NA FALSE NA 0 -0.441 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 rs530629463 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAT A,G 0.0001483 7:120741530 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 splice_region_variant 0.717467 0.25172 0.10764 0.078448 0.560848242212111 0.20397 0.980460832264043 TRUE 0.000175417 ENSE00001295053_006 ENSE00001295053 006 7 120381546 120381715 + 42 96 32 G T 120381591 2328 46 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAATCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 120741536 120741537 120741537 exon 4 0.0416666666666667 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAATCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 1544 2685 0.99836550690215 0.997162334524271 0.997763920713211 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0314857783745045 0.0849850718062755 0.994979661132214 0.939528495622821 NA 0.05823542509039 NA FALSE NA 1 4.205 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1 NA AGC G,T 8.239e-06 7:120741537 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 missense_variant 2.928911 0.96154 0.94609 0.615465 0.993354193992708 0 0.980460832264043 TRUE NA ENSE00001295053_007 ENSE00001295053 007 7 120381546 120381715 + 42 96 32 C T 120381609 2329 64 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCTGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 120741554 120741555 120741555 exon 22 0.229166666666667 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCTGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 782 1025 1 0.99738885289852 0.99869442644926 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0331202714723541 0.085211590180524 0.994979661132214 0.939528495622821 NA 0.0591659308264391 NA FALSE NA 0.986 2.118 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 rs376029594 1 NA T:0.0002 T:0 CCG C,T 8.239e-06 7:120741555 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 missense_variant 7.512931 0.93075 0.87161 0.615465 0.996607936860686 0 0.980460832264043 TRUE NA ENSE00001295053_010 ENSE00001295053 010 7 120381546 120381715 + 42 96 32 C T 120381623 2332 78 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGTGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 120741568 120741569 120741569 exon 36 0.375 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGTGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 1497 1799 0.996964154128502 0.976990315537569 0.986977234833036 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0300844256008559 0.0648130528195739 0.994979661132214 0.939528495622821 NA 0.0474487392102149 NA FALSE NA 0 -2.263 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1 NA GCG C,T 1.648e-05 7:120741569 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 synonymous_variant 2.481699 0.83885 0.066 0.706298 0.874717139408874 0 0.980460832264043 TRUE 3.25786e-05 ENSE00001295053_011 ENSE00001295053 011 7 120381546 120381715 + 42 96 32 G A 120381624 2333 79 AACATTAAAAAAAGAGATGTAATTGATTGTACCTGCAGCTGATTACTGAGTAAACCATTCCGTTTGCTCTGCATGTAAGCATTTGCGCTTCTGCTTTTGGCTGCCCGGATCCTGGCCAGTCTAGCTTTCTATAGGAGAAAAAATAAACATCCCATTAACATTTATAAATC 120741491 120741661 120741569 120741570 120741570 exon 37 0.385416666666667 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCAGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 1837 1016 0.946941380250224 0.81564557618434 0.881293478217282 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA -0.0199383482774224 -0.0965316865336557 0.994979661132214 0.939528495622821 NA -0.058235017405539 NA FALSE NA 1 7.157 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 COSM168009 1 NA CGG G,A 2.471e-05 7:120741570 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 missense_variant 4.32465 0.9673 0.9571 0.706298 0.999459781784731 0 0.980460832264043 TRUE 1.22169e-05 ENSE00001295053_013 ENSE00001295053 013 7 120381546 120381715 + 42 96 32 C T 120381629 2335 84 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGTGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 120741574 120741575 120741575 exon 42 0.4375 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGTGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 1915 2814 0.975665977611144 0.992982890494391 0.984324434052768 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0087862490834979 0.0808056277763959 0.994979661132214 0.939528495622821 NA 0.0447959384299469 NA FALSE NA 0.977 -0.019 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:120741575 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 synonymous_variant 2.484606 0.92198 0.52602 0.706298 0.874035241417988 0 0.980460832264043 TRUE 2.4432e-05 ENSE00001295053_014 ENSE00001295053 014 7 120381546 120381715 + 42 96 32 C A 120381629 2336 84 AACATTAAAAAAAGAGATGTAATTGATTGTACCTGCAGCTGATTACTGAGTAAACCATTCCGTTTGCTCTGCATGTAAGCATTTGCTCTTCCGCTTTTGGCTGCCCGGATCCTGGCCAGTCTAGCTTTCTATAGGAGAAAAAATAAACATCCCATTAACATTTATAAATC 120741491 120741661 120741574 120741575 120741575 exon 42 0.4375 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGAGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 3997 1632 0.92862706705891 0.998987743447951 0.96380740525343 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA -0.0382526614687363 0.0868104807299551 0.994979661132214 0.939528495622821 NA 0.0242789096306094 NA FALSE NA 0.977 -0.019 NA NA NA KCND2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCND2 NA NA NA ENSG00000184408 ENSE00001295053 missense_variant 6.172941 0.92946 0.73985 0.706298 0.997257458610841 0 0.980460832264043 TRUE 4.07199e-06 ENSE00001295053_015 ENSE00001295053 015 7 120381546 120381715 + 42 96 32 G A 120381647 2337 102 AACATTAAAAAAAGAGATGTAATTGATTGTACCTGCAGCTGATTACTGAGTAAACCATTCCGTTTGCTTTGCATGTAAGCATTTGCGCTTCCGCTTTTGGCTGCCCGGATCCTGGCCAGTCTAGCTTTCTATAGGAGAAAAAATAAACATCCCATTAACATTTATAAATC 120741491 120741661 120741592 120741593 120741593 exon -37 0.625 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAAAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 482 425 0.993524735710294 1 0.996762367855147 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0266450071826483 0.0878227372820045 0.994979661132214 0.939528495622821 NA 0.0572338722323264 NA FALSE NA 1 3.055 rs144966242 upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 rs144966242 1 NA A:0 A:0.0005 AGA G,A 0.0002142 7:120741593 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 synonymous_variant 1.109366 0.93214 0.84874 0.615465 0.855018285504509 0 0.980460832264043 TRUE 0.000179213 ENSE00001295053_016 ENSE00001295053 016 7 120381546 120381715 + 42 96 32 C T 120381654 2338 109 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAATGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 120741599 120741600 120741600 exon -30 0.697916666666667 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAATGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 2750 873 0.998183500051524 0.994201923914606 0.996192711983065 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0313037715238785 0.082024661196611 0.994979661132214 0.939528495622821 NA 0.0566642163602448 NA FALSE NA 1 4.276 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 rs561063026&COSM1737355 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 8.238e-06 7:120741600 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 missense_variant 7.883398 0.95766 0.92941 0.615465 0.99924633294651 0 0.980460832264043 TRUE NA ENSE00001295053_017 ENSE00001295053 017 7 120381546 120381715 + 42 96 32 G A 120381655 2339 110 AACATTAAAAAAAGAGATGTAATTGATTGTACCTGCAGCTGATTACTGAGTAAACCATTCTGTTTGCTCTGCATGTAAGCATTTGCGCTTCCGCTTTTGGCTGCCCGGATCCTGGCCAGTCTAGCTTTCTATAGGAGAAAAAATAAACATCCCATTAACATTTATAAATC 120741491 120741661 120741600 120741601 120741601 exon -29 0.708333333333333 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACAGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 2529 1605 0.998159307544693 0.999663805936477 0.998911556740585 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0312795790170471 0.0874865432184814 0.994979661132214 0.939528495622821 NA 0.0593830611177643 NA FALSE NA 1 5.964 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 rs530060196 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 2.471e-05 7:120741601 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 missense_variant 4.127369 0.95482 0.91719 0.615465 0.996815247789354 0 0.980460832264043 TRUE 1.22226e-05 ENSE00001295053_018 ENSE00001295053 018 7 120381546 120381715 + 42 96 32 C A 120381666 2340 121 AACATTAAAAAAAGAGATGTAATTGATTGTACCTGCAGCTGATTACTGATTAAACCATTCCGTTTGCTCTGCATGTAAGCATTTGCGCTTCCGCTTTTGGCTGCCCGGATCCTGGCCAGTCTAGCTTTCTATAGGAGAAAAAATAAACATCCCATTAACATTTATAAATC 120741491 120741661 120741611 120741612 120741612 exon -18 0.822916666666667 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTAATCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 800 456 1 0.999653017145129 0.999826508572565 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0331202714723541 0.0874757544271336 0.994979661132214 0.939528495622821 NA 0.0602980129497439 NA FALSE NA 1 1.561 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1 NA ACT C,A 8.239e-06 7:120741612 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 missense_variant 3.546718 0.95208 0.86922 0.615465 0.995892741530415 0 0.980460832264043 TRUE 4.07594e-06 ENSE00001295053_019 ENSE00001295053 019 7 120381546 120381715 + 42 96 32 A G 120381686 2341 141 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTGCAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 120741631 120741632 120741632 downstr_intron 3 1.09677419354839 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTGCAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 390 1778 0.775226669994283 0.732216108993507 0.753721389493895 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA -0.191653058533363 -0.179961153724489 0.994979661132214 0.939528495622821 NA -0.185807106128926 NA FALSE NA 0.997 4.045 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1 NA TAC A,G 1.648e-05 7:120741632 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 splice_region_variant 0.950999 0.95374 0.83391 0.053691 0.890356067032413 0.85493 0.980460832264043 TRUE 1.63611e-05 ENSE00001295053_020 ENSE00001295053 020 7 120381546 120381715 + 42 96 32 C T 120381697 2342 152 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTATATCTCTTTTTTTAATGTT 120741491 120741661 120741642 120741643 120741643 downstr_intron 14 1.45161290322581 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTATATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 1036 889 0.999482449134218 0.974889268771765 0.987185858952991 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0326027206065717 0.0627120060537697 0.994979661132214 0.939528495622821 NA 0.0476573633301707 NA FALSE NA 0 -0.212 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1 NA ACA C,T 8.242e-06 7:120741643 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 intron_variant 0.304997 0.22545 0.09523 0.053691 0.601733214383562 0.0610686 0.980460832264043 TRUE 4.11157e-06 ENSE00001295053_021 ENSE00001295053 021 7 120381546 120381715 + 42 96 32 A C 120381698 2343 153 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACCTCTCTTTTTTTAATGTT 120741491 120741661 120741643 120741644 120741644 downstr_intron 15 1.48387096774194 GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACCTCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT mutant NA NA NA NA NA 650 2331 0.995489925825549 0.99392078495591 0.99470535539073 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA 0.0286101972979035 0.0817435222379144 0.994979661132214 0.939528495622821 NA 0.0551768597679089 NA FALSE NA 0 -0.727 . upstream_gene_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 rs370527455 1 NA C:0.0005 C:0 CAT A,C 8.243e-06 7:120741644 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001295053 intron_variant -0.307256 0.20996 0.04038 0.053691 0.367933993896479 0.102326 0.980460832264043 TRUE NA ENSE00001295053_BRK ENSE00001295053 BRK 7 120381546 120381715 + 42 96 32 A,G; T,T NA NA NA GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATTTAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGCCACAATCAATTACATCTCTTTTTTTAATGTT 120741491 120741661 NA NA NA NA NA NA GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATTTAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGCCACAATCAATTACATCTCTTTTTTTAATGTT GATTTATAAATGTTAATGGGATGTTTATTTTTTCTCCTATAGAAAGCTAGACTGGCCAGGATCCGGGCAGCCAAAAGCGGAAGCGCAAATGCTTACATGCAGAGCAAACGGAATGGTTTACTCAGTAATCAGCTGCAGGTACAATCAATTACATCTCTTTTTTTAATGTT control NA NA NA NA NA 660 1762 0.000741631370717488 0 0.000370815685358744 0.996763183065792 0.993196139198637 0.966879728527646 0.912177262717995 NA NA -0.966138097156928 -0.912177262717995 0.994979661132214 0.939528495622821 NA -0.939157679937462 NA TRUE NA NA NA NA NA NA KCND2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCND2 NA NA NA ENSG00000184408 ENSE00001295053 NA NA NA NA NA NA NA 0.980460832264043 TRUE NA ENSE00001295579_000 ENSE00001295579 000 3 58081817 58081986 + 51 78 41 NA NA NA NA NA CCCAGAGCAGCCCAAGCCACAGCCATGCTGCTTCATCTTACTTTGTGTAGCCCGGTGACCTTGGGCAGATACTCCACAGAGTATGTCTTGTTCTTGTCACTGTCAGGGGTCACTTGTGCCTAGGAGGGAAGGTGGGCAACAGTTAGAAAAGGTGCCGGGTGTGAGTAAGG 58096089 58096259 NA NA NA NA NA NA CCTTACTCACACCCGGCACCTTTTCTAACTGTTGCCCACCTTCCCTCCTAGGCACAAGTGACCCCTGACAGTGACAAGAACAAGACATACTCTGTGGAGTATCTGCCCAAGGTCACCGGGCTACACAAAGTAAGATGAAGCAGCATGGCTGTGGCTTGGGCTGCTCTGGG CCTTACTCACACCCGGCACCTTTTCTAACTGTTGCCCACCTTCCCTCCTAGGCACAAGTGACCCCTGACAGTGACAAGAACAAGACATACTCTGTGGAGTATCTGCCCAAGGTCACCGGGCTACACAAAGTAAGATGAAGCAGCATGGCTGTGGCTTGGGCTGCTCTGGG natural 168 335 0.915072789627837 0.889588605671748 0.902330697649793 525 299 0.963945161407957 0.96220296349019 0.963074062449073 0.915072789627837 0.889588605671748 0.963945161407957 0.96220296349019 0 0 0 0 0.902330697649793 0.963074062449073 0 0 0 FALSE FALSE NA NA NA NA NA FLNB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FLNB NA NA NA ENSG00000136068 ENSE00001295579 NA NA NA NA NA NA NA 0.00243124047488239 FALSE NA ENSE00001295579_001 ENSE00001295579 001 3 58081817 58081986 + 51 78 41 C T 58081828 1874 12 CCCAGAGCAGCCCAAGCCACAGCCATGCTGCTTCATCTTACTTTGTGTAGCCCGGTGACCTTGGGCAGATACTCCACAGAGTATGTCTTGTTCTTGTCACTGTCAGGGGTCACTTGTGCCTAGGAGGGAAGGTGGGCAACAGTTAGAAAAGGTGCCGGATGTGAGTAAGG 58096089 58096259 58096100 58096101 58096101 upstr_intron -40 -0.764705882352941 CCTTACTCACATCCGGCACCTTTTCTAACTGTTGCCCACCTTCCCTCCTAGGCACAAGTGACCCCTGACAGTGACAAGAACAAGACATACTCTGTGGAGTATCTGCCCAAGGTCACCGGGCTACACAAAGTAAGATGAAGCAGCATGGCTGTGGCTTGGGCTGCTCTGGG CCTTACTCACACCCGGCACCTTTTCTAACTGTTGCCCACCTTCCCTCCTAGGCACAAGTGACCCCTGACAGTGACAAGAACAAGACATACTCTGTGGAGTATCTGCCCAAGGTCACCGGGCTACACAAAGTAAGATGAAGCAGCATGGCTGTGGCTTGGGCTGCTCTGGG mutant NA NA NA NA NA 250 48 0.979001484772997 0.959160756348146 0.969081120560572 0.915072789627837 0.889588605671748 0.963945161407957 0.96220296349019 NA NA 0.0150563233650403 -0.00304220714204384 0.902330697649793 0.963074062449073 NA 0.00600705811149821 NA FALSE NA 0.007 1.33 . intron_variant MODIFIER FLNB HGNC 3755 ENST00000429972 5/45 1 NA ACC C,T 8.237e-06 3:58096101 FLNB HGNC Symbol protein_coding 163851 ENSG00000136068 ENSE00001295579 intron_variant 0.459626 0.25257 0.2226 0.156188 0.65994708290049 0.17503 0.00243124047488239 FALSE 4.10024e-06 ENSE00001295579_BRK ENSE00001295579 BRK 3 58081817 58081986 + 51 78 41 A,G; T,T NA NA NA CCCAGAGCAGCCCAAGCCACAGCCATGCTGCTTCATCTTGGTTTGTGTAGCCCGGTGACCTTGGGCAGATACTCCACAGAGTATGTCTTGTTCTTGTCACTGTCAGGGGTCACTTGTGCAAAGGAGGGAAGGTGGGCAACAGTTAGAAAAGGTGCCGGGTGTGAGTAAGG 58096089 58096259 NA NA NA NA NA NA CCTTACTCACACCCGGCACCTTTTCTAACTGTTGCCCACCTTCCCTCCTTTGCACAAGTGACCCCTGACAGTGACAAGAACAAGACATACTCTGTGGAGTATCTGCCCAAGGTCACCGGGCTACACAAACCAAGATGAAGCAGCATGGCTGTGGCTTGGGCTGCTCTGGG CCTTACTCACACCCGGCACCTTTTCTAACTGTTGCCCACCTTCCCTCCTAGGCACAAGTGACCCCTGACAGTGACAAGAACAAGACATACTCTGTGGAGTATCTGCCCAAGGTCACCGGGCTACACAAAGTAAGATGAAGCAGCATGGCTGTGGCTTGGGCTGCTCTGGG control 17 30 0 0 0 NA NA NA NA NA 0.915072789627837 0.889588605671748 0.963945161407957 0.96220296349019 -0.915072789627837 -0.889588605671748 NA NA 0.902330697649793 0.963074062449073 -0.902330697649793 NA NA NA TRUE NA NA NA NA NA FLNB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FLNB NA NA NA ENSG00000136068 ENSE00001295579 NA NA NA NA NA NA NA 0.00243124047488239 FALSE NA ENSE00001296213_000 ENSE00001296213 000 15 91560996 91561165 - 39 81 50 NA NA NA NA NA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 NA NA NA NA NA NA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA natural 365 726 0.848496824536037 0.848538196052193 0.848517510294115 2358 1006 0.85202692152149 0.925055745184356 0.888541333352923 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 0 0 0 0 0.848517510294115 0.888541333352923 0 0 0 FALSE FALSE NA NA NA NA NA AC068831.10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS33B NA NA NA ENSG00000184056 ENSE00003543676 NA NA NA NA NA NA NA 2.91337145537518e-09 FALSE NA ENSE00001296213_001 ENSE00001296213 001 15 91560996 91561165 - 39 81 50 C T 91561015 2518 151 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGAGGGCCATGCCCCTCTTTAA 91017765 91017935 91017784 91017785 91017785 downstr_intron 20 1.52631578947368 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGAGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 861 619 0.807831891237136 0.810906255898253 0.809369073567695 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA -0.0441950302843535 -0.114149489286103 0.848517510294115 0.888541333352923 NA -0.0791722597852281 NA FALSE NA 0 -0.246 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 rs576984142 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCC C,T 5.765e-05 15:91017785 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 intron_variant 0.241264 0.18221 0.06335 0.322412 0.607774802904204 0.0842583 2.91337145537518e-09 FALSE 4.06141e-05 ENSE00001296213_002 ENSE00001296213 002 15 91560996 91561165 - 39 81 50 G C 91561021 2519 145 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTGCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017790 91017791 91017791 downstr_intron 14 1.36842105263158 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTGCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 1206 282 0.736093780249566 0.8 0.768046890124783 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA -0.115933141271924 -0.125055745184356 0.848517510294115 0.888541333352923 NA -0.12049444322814 NA FALSE NA 0 0.148 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA GGA G,C 8.236e-06 15:91017791 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 intron_variant -0.187621 0.14141 0.09741 0.163922 0.324012782130751 0.140358 2.91337145537518e-09 FALSE 4.06108e-06 ENSE00001296213_005 ENSE00001296213 005 15 91560996 91561165 - 39 81 50 C T 91561029 2522 137 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTATCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017798 91017799 91017799 downstr_intron 6 1.15789473684211 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTATCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 1000 730 0.802207730919983 0.8 0.801103865459991 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA -0.0498191906015073 -0.125055745184356 0.848517510294115 0.888541333352923 NA -0.0874374678929318 NA FALSE NA 0 -0.567 NA NA NA AC068831.10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:91017799 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 splice_region_variant -0.155591 0.15824 0.01228 0.163922 0.578886290977375 0.266322 2.91337145537518e-09 FALSE 4.06088e-06 ENSE00001296213_006 ENSE00001296213 006 15 91560996 91561165 - 39 81 50 A T 91561030 2523 136 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACAGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017799 91017800 91017800 downstr_intron 5 1.13157894736842 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACAGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 1902 552 0.951344070761859 0.955170500151593 0.953257285456726 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA 0.0993171492403687 0.0301147549672369 0.848517510294115 0.888541333352923 NA 0.0647159521038028 NA FALSE NA 0 -0.684 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA CAG A,T 7.413e-05 15:91017800 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 splice_region_variant -0.94751 0.19582 0.0391 0.163922 0.570611308322556 0.272773 2.91337145537518e-09 FALSE 7.30941e-05 ENSE00001296213_007 ENSE00001296213 007 15 91560996 91561165 - 39 81 50 C T 91561034 2524 132 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGATACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017803 91017804 91017804 downstr_intron 1 1.02631578947368 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGATACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 51 13 0 0.0509362775083766 0.0254681387541883 NA NA NA NA NA 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 -0.848496824536037 -0.797601918543816 NA NA 0.848517510294115 0.888541333352923 -0.823049371539927 NA NA NA TRUE 1 5.522 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 CS041131 1 NA ACC C,T 2.471e-05 15:91017804 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 splice_donor_variant 4.829126 0.94909 0.85673 0.163922 0.994897079524065 0.984482 2.91337145537518e-09 FALSE 1.21826e-05 ENSE00001296213_008 ENSE00001296213 008 15 91560996 91561165 - 39 81 50 C A 91561035 2525 131 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAATGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017804 91017805 91017805 exon -1 1 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAATGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 122 37 0 0 0 218 958 0.00401826946508653 0 0.00200913473254326 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 -0.848496824536037 -0.848538196052193 -0.848008652056403 -0.925055745184356 0.848517510294115 0.888541333352923 -0.848517510294115 -0.88653219862038 0.0380146883262648 TRUE TRUE 1 5.522 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA CCT C,A 8.236e-06 15:91017805 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 6.256379 0.95063 0.87762 0.722319 0.99869082101065 0 2.91337145537518e-09 FALSE 4.06081e-06 ENSE00001296213_009 ENSE00001296213 009 15 91560996 91561165 - 39 81 50 C T 91561038 2526 128 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTAAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017807 91017808 91017808 exon -4 0.962962962962963 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTAAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 143 274 0.85 0.85 0.85 NA NA NA NA NA 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 0.00150317546396272 0.00146180394780715 NA NA 0.848517510294115 0.888541333352923 0.00148248970588494 NA NA NA FALSE 0.47 -0.693 rs145292016 upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 rs145292016 1 NA T:0.0002 T:0 TCA C,T 8.236e-06 15:91017808 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 synonymous_variant 0.767187 0.86022 0.1911 0.722319 0.712125596121743 0 2.91337145537518e-09 FALSE 4.06075e-06 ENSE00001296213_011 ENSE00001296213 011 15 91560996 91561165 - 39 81 50 A C 91561048 2528 118 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGGCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017817 91017818 91017818 exon -14 0.839506172839506 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGGCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 1027 447 0.852487075802451 0.801761952914953 0.827124514358702 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA 0.000460154280961356 -0.123293792269403 0.848517510294115 0.888541333352923 NA -0.0614168189942207 NA FALSE NA 1 6.577 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA GAC A,C 8.236e-06 15:91017818 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 5.296699 0.94251 0.89558 0.722319 0.996398058135699 0 2.91337145537518e-09 FALSE 4.06072e-06 ENSE00001296213_012 ENSE00001296213 012 15 91560996 91561165 - 39 81 50 C T 91561049 2529 117 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATATCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017818 91017819 91017819 exon -15 0.827160493827161 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATATCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 123 109 0.85 0.85 0.85 NA NA NA NA NA 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 0.00150317546396272 0.00146180394780715 NA NA 0.848517510294115 0.888541333352923 0.00148248970588494 NA NA NA FALSE 1 5.522 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA ACA C,T 8.236e-06 15:91017819 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 3.324038 0.94907 0.85673 0.722319 0.997953497196526 0 2.91337145537518e-09 FALSE 1.21821e-05 ENSE00001296213_014 ENSE00001296213 014 15 91560996 91561165 - 39 81 50 T C 91561051 2531 115 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAGTGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017820 91017821 91017821 exon -17 0.802469135802469 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAGTGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 442 165 0.855786714104697 0.95 0.902893357052348 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA 0.00375979258320702 0.0249442548156437 0.848517510294115 0.888541333352923 NA 0.0143520236994253 NA FALSE NA 0.989 1.64 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA ATT T,C 8.236e-06 15:91017821 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant -0.098761 0.89972 0.6525 0.722319 0.890796952366511 0 2.91337145537518e-09 FALSE 4.06072e-06 ENSE00001296213_015 ENSE00001296213 015 15 91560996 91561165 - 39 81 50 G T 91561061 2532 105 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATAGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017830 91017831 91017831 exon -27 0.679012345679012 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATAGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 18 28 0 0 0 222 559 0.0316716239049719 0.152229724576871 0.0919506742409214 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 -0.848496824536037 -0.848538196052193 -0.820355297616518 -0.772826020607485 0.848517510294115 0.888541333352923 -0.848517510294115 -0.796590659112002 0.0519268511821134 TRUE TRUE 1 4.115 rs11542638 upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 CM065518 1 NA CGA G,T 0.089 15:91017831 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 synonymous_variant 1.317119 0.9507 0.84915 0.722319 0.908002298371748 0 2.91337145537518e-09 FALSE 0.0849585 ENSE00001296213_016 ENSE00001296213 016 15 91560996 91561165 - 39 81 50 C T 91561065 2533 101 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTAGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017834 91017835 91017835 exon -31 0.62962962962963 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTAGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 38 59 0 0 0 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA -0.85202692152149 -0.925055745184356 0.848517510294115 0.888541333352923 NA -0.888541333352923 NA TRUE NA 1 2.901 rs143087354 upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 rs143087354 1 NA T:0.0002 T:0 CCA C,T 1.647e-05 15:91017835 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 synonymous_variant 1.385283 0.92709 0.74267 0.722319 0.849307651983993 0 2.91337145537518e-09 FALSE 8.12156e-06 ENSE00001296213_018 ENSE00001296213 018 15 91560996 91561165 - 39 81 50 T C 91561076 2535 90 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCGTGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017845 91017846 91017846 exon 40 0.493827160493827 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCGTGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 52 183 0.85 0.85 0.85 NA NA NA NA NA 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 0.00150317546396272 0.00146180394780715 NA NA 0.848517510294115 0.888541333352923 0.00148248970588494 NA NA NA FALSE 1 5.675 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:91017846 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 1.785861 0.94031 0.84956 0.732398 0.967337585043663 0 2.91337145537518e-09 FALSE 8.12143e-06 ENSE00001296213_019 ENSE00001296213 019 15 91560996 91561165 - 39 81 50 G T 91561079 2536 87 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATATCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017848 91017849 91017849 exon 37 0.45679012345679 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATATCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 19 43 0.85 0.85 0.85 52 125 0.928051562245358 0.999694963902802 0.96387326307408 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 0.00150317546396272 0.00146180394780715 0.0760246407238681 0.0746392187184454 0.848517510294115 0.888541333352923 0.00148248970588494 0.0753319297211567 0.0738494400152718 FALSE FALSE 1 3.541 NA NA NA AC068831.10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:91017849 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 5.889744 0.93039 0.803 0.732398 0.995580552329513 0 2.91337145537518e-09 FALSE 0.000129943 ENSE00001296213_021 ENSE00001296213 021 15 91560996 91561165 - 39 81 50 T C 91561081 2538 85 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGGTCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017850 91017851 91017851 exon 35 0.432098765432099 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGGTCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 880 762 0.00831800199493001 0.0089588227064566 0.0086384123506933 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA -0.84370891952656 -0.9160969224779 0.848517510294115 0.888541333352923 NA -0.87990292100223 NA TRUE NA 1 5.675 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA ATC T,C 8.236e-06 15:91017851 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 2.681123 0.94031 0.84956 0.732398 0.990470293190429 0 2.91337145537518e-09 FALSE 4.06085e-06 ENSE00001296213_022 ENSE00001296213 022 15 91560996 91561165 - 39 81 50 C T 91561088 2539 78 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTAAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017857 91017858 91017858 exon 28 0.345679012345679 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTAAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 127 557 0.8 0.8 0.8 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA -0.0520269215214898 -0.125055745184356 0.848517510294115 0.888541333352923 NA -0.088541333352923 NA FALSE NA 1 5.522 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 COSM1518265 1 NA TCA C,T 8.236e-06 15:91017858 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 6.416068 0.94876 0.85633 0.732398 0.999254122161021 0 2.91337145537518e-09 FALSE 4.06098e-06 ENSE00001296213_023 ENSE00001296213 023 15 91560996 91561165 - 39 81 50 A G 91561090 2540 76 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCACTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017859 91017860 91017860 exon 26 0.320987654320988 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCACTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 14 21 0.85 0.85 0.85 NA NA NA NA NA 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 0.00150317546396272 0.00146180394780715 NA NA 0.848517510294115 0.888541333352923 0.00148248970588494 NA NA NA FALSE 1 6.577 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA AAT A,G 1.647e-05 15:91017860 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 5.494227 0.94146 0.88943 0.732398 0.998525657726531 0 2.91337145537518e-09 FALSE 1.62435e-05 ENSE00001296213_024 ENSE00001296213 024 15 91560996 91561165 - 39 81 50 T G 91561091 2541 75 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCCTTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017860 91017861 91017861 exon 25 0.308641975308642 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCCTTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 210 280 0.85 0.85 0.85 215 85 0.965888854134173 0.948167447160554 0.957028150647364 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 0.00150317546396272 0.00146180394780715 0.113861932612684 0.0231117019761974 0.848517510294115 0.888541333352923 0.00148248970588494 0.0684868172944405 0.0670043275885556 FALSE FALSE 1 5.675 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA ATG T,G 8.236e-06 15:91017861 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 2.852498 0.94154 0.86688 0.732398 0.991148241608144 0 2.91337145537518e-09 FALSE 4.06088e-06 ENSE00001296213_025 ENSE00001296213 025 15 91560996 91561165 - 39 81 50 A T 91561098 2542 68 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGAATTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017867 91017868 91017868 exon 18 0.222222222222222 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGAATTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 26 58 0.95 0.8 0.875 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA 0.0979730784785101 -0.125055745184356 0.848517510294115 0.888541333352923 NA -0.0135413333529231 NA FALSE NA 1 3.275 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA AAT A,T 8.236e-06 15:91017868 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 4.148817 0.93052 0.66401 0.732398 0.996885588121857 0 2.91337145537518e-09 FALSE 4.06105e-06 ENSE00001296213_027 ENSE00001296213 027 15 91560996 91561165 - 39 81 50 G A 91561115 2544 51 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGTTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017884 91017885 91017885 exon 1 0.0123456790123457 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGTTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 297 242 0 0 0 278 125 0 0.0503933165535613 0.0251966582767806 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 -0.848496824536037 -0.848538196052193 -0.85202692152149 -0.874662428630795 0.848517510294115 0.888541333352923 -0.848517510294115 -0.863344675076142 0.0148271647820274 TRUE TRUE 1 3.972 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 rs201228119 1 NA AGC G,A 8.236e-06 15:91017885 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 missense_variant 2.185401 0.92922 0.79254 0.732398 0.993087667187086 0 2.91337145537518e-09 FALSE 8.12427e-06 ENSE00001296213_030 ENSE00001296213 030 15 91560996 91561165 - 39 81 50 A G 91561129 2547 37 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATCGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017898 91017899 91017899 upstr_intron -14 -0.26 CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATCGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant NA NA NA NA NA 24 11 0.8 0.639879354033275 0.719939677016638 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA -0.0520269215214898 -0.285176391151081 0.848517510294115 0.888541333352923 NA -0.168601656336285 NA FALSE NA 0.005 1.81 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA CAA A,G 8.236e-06 15:91017899 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 intron_variant 0.470451 0.26145 0.09454 0.088506 0.745521146334907 0.148833 2.91337145537518e-09 FALSE NA ENSE00001296213_032 ENSE00001296213 032 15 91560996 91561165 - 39 81 50 T A 91561133 2549 33 CGGAAGCTCATGTGACCTGTGAGTGACCCAACTTATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 91017902 91017903 91017903 upstr_intron -18 -0.34 CGGAAGCTCATGTGACCTGTGAGTGACCCAACTTATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA mutant 49 74 0.943289047422018 0.893348098873919 0.918318573147968 685 380 0.95724939144331 0.988942991113288 0.973096191278299 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 0.0947922228859804 0.044809902821726 0.10522246992182 0.0638872459289315 0.848517510294115 0.888541333352923 0.0698010628538532 0.0845548579253756 0.0147537950715224 FALSE FALSE 0 -1.289 . upstream_gene_variant MODIFIER AC068831.10 Clone_based_vega_gene NA ENST00000556904 1 NA ATG T,A 2.471e-05 15:91017903 VPS33B HGNC Symbol protein_coding 24187 ENSG00000184056 ENSE00003543676 intron_variant 0.726415 0.17112 0.09278 0.088506 0.799016436223019 0.161112 2.91337145537518e-09 FALSE 1.21983e-05 ENSE00001296213_BRK ENSE00001296213 BRK 15 91560996 91561165 - 39 81 50 A,G; T,T NA NA NA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCTTCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGCCACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA 91017765 91017935 NA NA NA NA NA NA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCTTCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGCCACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA CGGAAGCTCATGTGACCTGTGAGTGACCCAACATATTGTGTCTCCTTCAGCTTCCTGGAAAAAAGGATTTATTCATTGAGGCAGATCTCATGAGCCCTTTGGATCGAATTGCCAATGTCTCCATCCTGAAGGTACTGTCCCTTTCCCCTGGGGGCCATGCCCCTCTTTAA control NA NA NA NA NA 88 568 0 0 0 0.848496824536037 0.848538196052193 0.85202692152149 0.925055745184356 NA NA -0.85202692152149 -0.925055745184356 0.848517510294115 0.888541333352923 NA -0.888541333352923 NA TRUE NA NA NA NA NA NA AC068831.10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS33B NA NA NA ENSG00000184056 ENSE00003543676 NA NA NA NA NA NA NA 2.91337145537518e-09 FALSE NA ENSE00001296527_000 ENSE00001296527 000 22 32445876 32446045 + 54 72 44 NA NA NA NA NA TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 NA NA NA NA NA NA TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT natural 66 66 0.990850379608241 0.977156125842572 0.984003252725406 2848 3613 0.973329925271564 0.848576629225404 0.910953277248484 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 0 0 0 0 0.984003252725406 0.910953277248484 0 0 0 FALSE FALSE NA NA NA NA NA SLC5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A1 NA NA NA ENSG00000100170 ENSE00001296527 NA NA NA NA NA NA NA 0.00803119583011728 FALSE NA ENSE00001296527_003 ENSE00001296527 003 22 32445876 32446045 + 54 72 44 G A 32445901 560 26 TGGCAAGGCCACTCTTCTAGTTTTCAATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049913 32049914 32049914 upstr_intron -29 -0.518518518518518 TGGCAAGGCCACTCTTCTAGTTTTCAATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 80 1481 0.994739497884545 0.999738743705734 0.997239120795139 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.021409572612981 0.15116211448033 0.984003252725406 0.910953277248484 NA 0.0862858435466557 NA FALSE NA 0 0.338 . intron_variant MODIFIER SLC5A1 HGNC 11036 ENST00000266088 1/14 rs200760147 1 NA CGA G,A 8.236e-06 22:32049914 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 intron_variant 0.358142 0.19016 0.03643 0.06567 0.745262782388379 0.0478384 0.00803119583011728 FALSE 4.06157e-06 ENSE00001296527_004 ENSE00001296527 004 22 32445876 32446045 + 54 72 44 T A 32445904 561 29 TGGCAAGGCCACTCTTCTAGTTTTCGATAACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049916 32049917 32049917 upstr_intron -26 -0.462962962962963 TGGCAAGGCCACTCTTCTAGTTTTCGATAACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 57 96 1 1 1 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0266700747284363 0.151423370774596 0.984003252725406 0.910953277248484 NA 0.0890467227515163 NA FALSE NA 0.026 1.79 . intron_variant MODIFIER SLC5A1 HGNC 11036 ENST00000266088 1/14 1 NA TTA T,A 8.236e-06 22:32049917 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 intron_variant 0.960517 0.22082 0.0963 0.06567 0.786733529273726 0.0478384 0.00803119583011728 FALSE NA ENSE00001296527_005 ENSE00001296527 005 22 32445876 32446045 + 54 72 44 C T 32445924 562 49 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTTCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049936 32049937 32049937 upstr_intron -6 -0.0925925925925926 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTTCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 106 128 1 0.914755676732667 0.957377838366333 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0266700747284363 0.0661790475072631 0.984003252725406 0.910953277248484 NA 0.0464245611178497 NA FALSE NA 0 0.178 . splice_region_variant&intron_variant LOW SLC5A1 HGNC 11036 ENST00000266088 1/14 rs377219962 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 22:32049937 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 splice_region_variant 0.477743 0.79896 0.03128 0.06567 0.531534761573754 0.0995246 0.00803119583011728 FALSE 4.06095e-06 ENSE00001296527_006 ENSE00001296527 006 22 32445876 32446045 + 54 72 44 A G 32445946 563 71 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAGTCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049958 32049959 32049959 exon 17 0.236111111111111 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAGTCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 1205 741 0.983063106977887 1 0.991531553488944 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0097331817063232 0.151423370774596 0.984003252725406 0.910953277248484 NA 0.0805782762404597 NA FALSE NA 1 4.085 rs17683011 missense_variant MODERATE SLC5A1 HGNC 11036 ENST00000266088 2/15 rs17683011&CM961319 1 tolerated(0.4) benign(0.006) G:0.0212 G:0.003 G:0.0259 NA G:0 G:0.0606 G:0.0235 G:0.0138 G:0.0701 AAT A,G 0.049 22:32049959 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 missense_variant 0.79352 0.93092 0.79273 0.446893 0.948929122428055 0 0.00803119583011728 FALSE 0.048571 ENSE00001296527_008 ENSE00001296527 008 22 32445876 32446045 + 54 72 44 T C 32445956 565 81 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACCGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049968 32049969 32049969 exon 27 0.375 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACCGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 385 909 1 0.996840439014429 0.998420219507214 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0266700747284363 0.148263809789025 0.984003252725406 0.910953277248484 NA 0.0874669422587308 NA FALSE NA 0.001 -4.538 . synonymous_variant LOW SLC5A1 HGNC 11036 ENST00000266088 2/15 rs201673887 1 NA CTG T,C 8.236e-06 22:32049969 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 synonymous_variant -0.216378 0.29238 0.01266 0.446893 0.47786406370813 0 0.00803119583011728 FALSE 2.03034e-05 ENSE00001296527_009 ENSE00001296527 009 22 32445876 32446045 + 54 72 44 C T 32445965 566 90 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGTTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049977 32049978 32049978 exon 36 0.5 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGTTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 1432 100 0.999864213321564 1 0.999932106660782 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0265342880499999 0.151423370774596 0.984003252725406 0.910953277248484 NA 0.0889788294122981 NA FALSE NA 1 0.137 . synonymous_variant LOW SLC5A1 HGNC 11036 ENST00000266088 2/15 1 NA GCT C,T 8.236e-06 22:32049978 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 synonymous_variant 1.432454 0.95593 0.49266 0.446893 0.683882560421918 0 0.00803119583011728 FALSE 4.06065e-06 ENSE00001296527_010 ENSE00001296527 010 22 32445876 32446045 + 54 72 44 T C 32445969 567 94 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCCTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049981 32049982 32049982 exon -33 0.555555555555556 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCCTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 286 762 1 0.997355828548366 0.998677914274183 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0266700747284363 0.148779199322962 0.984003252725406 0.910953277248484 NA 0.0877246370256991 NA FALSE NA 1 4.924 . missense_variant MODERATE SLC5A1 HGNC 11036 ENST00000266088 2/15 1 deleterious(0) possibly_damaging(0.818) NA CTT T,C 8.236e-06 22:32049982 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 missense_variant 5.646186 0.97764 0.87998 0.446893 0.9985067032365 0 0.00803119583011728 FALSE 4.06058e-06 ENSE00001296527_012 ENSE00001296527 012 22 32445876 32446045 + 54 72 44 C G 32445981 569 106 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCGGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049993 32049994 32049994 exon -21 0.722222222222222 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCGGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 620 452 0.999267562448387 1 0.999633781224193 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0259376371768231 0.151423370774596 0.984003252725406 0.910953277248484 NA 0.0886805039757096 NA FALSE NA 0.99 0.569 NA NA NA SLC5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:32049994 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 missense_variant 5.279838 0.97103 0.63375 0.446893 0.998057505946859 0 0.00803119583011728 FALSE 4.06055e-06 ENSE00001296527_013 ENSE00001296527 013 22 32445876 32446045 + 54 72 44 G A 32445982 570 107 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCAAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32049994 32049995 32049995 exon -20 0.736111111111111 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCAAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 428 361 0.999421650744784 1 0.999710825372392 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0260917254732203 0.151423370774596 0.984003252725406 0.910953277248484 NA 0.0887575481239082 NA FALSE NA 1 6.007 . missense_variant MODERATE SLC5A1 HGNC 11036 ENST00000266088 2/15 rs200352654&COSM3553690 1 deleterious(0.01) benign(0.265) NA CGA G,A 4.118e-05 22:32049995 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 missense_variant 5.592065 0.98114 0.92518 0.446893 0.999476502179226 0 0.00803119583011728 FALSE 2.03031e-05 ENSE00001296527_014 ENSE00001296527 014 22 32445876 32446045 + 54 72 44 T C 32445988 571 113 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTACGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32050000 32050001 32050001 exon -14 0.819444444444444 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTACGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 535 657 0.835480101073097 0.948014725086248 0.891747413079673 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA -0.137849824198467 0.0994380958608445 0.984003252725406 0.910953277248484 NA -0.0192058641688113 NA FALSE NA 1 4.924 . missense_variant MODERATE SLC5A1 HGNC 11036 ENST00000266088 2/15 rs201383366 1 deleterious(0) possibly_damaging(0.627) NA C:0 C:0.0001 ATG T,C 8.236e-06 22:32050001 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 missense_variant 4.953304 0.97764 0.87998 0.446893 0.991687834772486 0 0.00803119583011728 FALSE 4.06065e-06 ENSE00001296527_015 ENSE00001296527 015 22 32445876 32446045 + 54 72 44 G T 32446001 572 126 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCTGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32050013 32050014 32050014 exon -1 1 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCTGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 526 60 0.806904942574385 0.812480966566761 0.809692954570573 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA -0.166424982697178 -0.0360956626586429 0.984003252725406 0.910953277248484 NA -0.101260322677911 NA FALSE NA 1 4.375 NA NA NA SLC5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:32050014 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 splice_region_variant 2.264564 0.98155 0.91183 0.446893 0.955924148256229 0 0.00803119583011728 FALSE 8.1215e-06 ENSE00001296527_017 ENSE00001296527 017 22 32445876 32446045 + 54 72 44 G A 32446006 574 131 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAATTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 32050018 32050019 32050019 downstr_intron 5 1.11627906976744 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAATTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 170 141 0.12759847171096 0 0.0637992358554801 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA -0.845731453560603 -0.848576629225404 0.984003252725406 0.910953277248484 NA -0.847154041393004 NA TRUE NA 1 6.007 . splice_region_variant&intron_variant LOW SLC5A1 HGNC 11036 ENST00000266088 2/14 1 NA AGT G,A 8.236e-06 22:32050019 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 splice_region_variant 2.139273 0.98114 0.92518 0.06567 0.975157487643527 0.976576 0.00803119583011728 FALSE 4.06062e-06 ENSE00001296527_019 ENSE00001296527 019 22 32445876 32446045 + 54 72 44 T C 32446025 576 150 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATCTACATAACTGCTTAACTGAT 32049888 32050058 32050037 32050038 32050038 downstr_intron 24 1.55813953488372 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATCTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 1545 245 0.99792557799229 0.998431373789697 0.998178475890994 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0245956527207266 0.149854744564294 0.984003252725406 0.910953277248484 NA 0.0872251986425102 NA FALSE NA 0.001 -0.214 . intron_variant MODIFIER SLC5A1 HGNC 11036 ENST00000266088 2/14 1 NA TTT T,C 8.236e-06 22:32050038 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 intron_variant 0.517373 0.22455 0.04762 0.06567 0.762471649981918 0.0753865 0.00803119583011728 FALSE 8.12242e-06 ENSE00001296527_020 ENSE00001296527 020 22 32445876 32446045 + 54 72 44 G A 32446035 577 160 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTACTTAACTGAT 32049888 32050058 32050047 32050048 32050048 downstr_intron 34 1.7906976744186 TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTACTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT mutant NA NA NA NA NA 363 1333 0.991013465744166 0.998235730679945 0.994624598212055 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 NA NA 0.0176835404726022 0.149659101454541 0.984003252725406 0.910953277248484 NA 0.0836713209635715 NA FALSE NA 0 0.22 . intron_variant MODIFIER SLC5A1 HGNC 11036 ENST00000266088 2/14 rs374315903 1 NA A:0.0002 A:0 TGC G,A 1.647e-05 22:32050048 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00001296527 intron_variant 0.005591 0.09499 0.00045 0.06567 0.664054640278393 0.0507148 0.00803119583011728 FALSE 8.12559e-06 ENSE00001296527_BRK ENSE00001296527 BRK 22 32445876 32446045 + 54 72 44 A,G; T,T NA NA NA TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCTTGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGCCAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT 32049888 32050058 NA NA NA NA NA NA TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCTTGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGCCAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT TGGCAAGGCCACTCTTCTAGTTTTCGATTACATTTTTGACCCTTTCCTCCTCAGGCTATGTTTTCCACCAATCGTGGGACTGTTGGAGGCTTCTTCCTGGCAGGCCGAAGTATGGTGTGGTGGCCGGTAAGTTTTCTCTGAAATGCTATTTACATAACTGCTTAACTGAT control 79 71 0 0 0 NA NA NA NA NA 0.990850379608241 0.977156125842572 0.973329925271564 0.848576629225404 -0.990850379608241 -0.977156125842572 NA NA 0.984003252725406 0.910953277248484 -0.984003252725406 NA NA NA TRUE NA NA NA NA NA SLC5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A1 NA NA NA ENSG00000100170 ENSE00001296527 NA NA NA NA NA NA NA 0.00803119583011728 FALSE NA ENSE00001296545_000 ENSE00001296545 000 17 79668028 79668197 + 47 87 36 NA NA NA NA NA TGCGGGTGCCGCTGTGAGGCCCCGGGAATGGCTCACCTGCTGGTACATGGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGGCAGAGACGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAGACGTCAGATGTGAGAGAGTAGCCCTGTGACCAGG 81700997 81701167 NA NA NA NA NA NA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA natural 19 16 0.85 0.85 0.85 64 466 1 0.946873002542106 0.973436501271053 0.85 0.85 1 0.946873002542106 0 0 0 0 0.85 0.973436501271053 0 0 0 FALSE FALSE NA NA NA NA NA HGS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HGS NA NA NA ENSG00000185359 ENSE00001296545 NA NA NA NA NA NA NA 0.131424768706374 FALSE NA ENSE00001296545_002 ENSE00001296545 002 17 79668028 79668197 + 47 87 36 C T 79668041 3533 14 TGCGGGTGCCGCTGTGAGGCCCCGGGAATGGCTCACCTGCTGGTACATGGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGGCAGAGACGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAGACGTCAGATGTGAGAGAGTAACCCTGTGACCAGG 81700997 81701167 81701010 81701011 81701011 upstr_intron -34 -0.702127659574468 CCTGGTCACAGGGTTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA mutant NA NA NA NA NA 39 3288 0.985914349978713 0.975294160152335 0.980604255065524 0.85 0.85 1 0.946873002542106 NA NA -0.0140856500212875 0.0284211576102288 0.85 0.973436501271053 NA 0.00716775379447065 NA FALSE NA 0 -0.8 . intron_variant&non_coding_transcript_variant MODIFIER HGS HGNC 4897 ENST00000573949 1/1 1 NA GCT C,T 8.237e-06 17:81701011 HGS HGNC Symbol protein_coding 19812 ENSG00000185359 ENSE00001296545 intron_variant 0.271713 0.14321 0.06836 0.12324 0.641193800547062 0.0651714 0.131424768706374 FALSE 8.13716e-06 ENSE00001296545_004 ENSE00001296545 004 17 79668028 79668197 + 47 87 36 C T 79668052 3535 25 TGCGGGTGCCGCTGTGAGGCCCCGGGAATGGCTCACCTGCTGGTACATGGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGGCAGAGACGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAGACGTCAGATATGAGAGAGTAGCCCTGTGACCAGG 81700997 81701167 81701021 81701022 81701022 upstr_intron -23 -0.468085106382979 CCTGGTCACAGGGCTACTCTCTCATATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA mutant NA NA NA NA NA 167 17 0.967088337929206 0.990581033958412 0.978834685943809 0.85 0.85 1 0.946873002542106 NA NA -0.0329116620707943 0.0437080314163055 0.85 0.973436501271053 NA 0.0053981846727556 NA FALSE NA 0.013 0.557 . intron_variant&non_coding_transcript_variant MODIFIER HGS HGNC 4897 ENST00000573949 1/1 1 NA ACA C,T 8.237e-06 17:81701022 HGS HGNC Symbol protein_coding 19812 ENSG00000185359 ENSE00001296545 intron_variant 0.253647 0.11728 0.26495 0.12324 0.666366464314012 0.0578846 0.131424768706374 FALSE 4.06666e-06 ENSE00001296545_008 ENSE00001296545 008 17 79668028 79668197 + 47 87 36 C T 79668062 3539 35 TGCGGGTGCCGCTGTGAGGCCCCGGGAATGGCTCACCTGCTGGTACATGGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGGCAGAGACGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAAACGTCAGATGTGAGAGAGTAGCCCTGTGACCAGG 81700997 81701167 81701031 81701032 81701032 upstr_intron -13 -0.25531914893617 CCTGGTCACAGGGCTACTCTCTCACATCTGACGTTTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA mutant NA NA NA NA NA 2084 606 0.940765784351894 0.994205818276165 0.96748580131403 0.85 0.85 1 0.946873002542106 NA NA -0.0592342156481056 0.047332815734059 0.85 0.973436501271053 NA -0.0059506999570233 NA FALSE NA 0.001 -0.368 . intron_variant&non_coding_transcript_variant MODIFIER HGS HGNC 4897 ENST00000573949 1/1 1 NA TCT C,T 3.295e-05 17:81701032 HGS HGNC Symbol protein_coding 19812 ENSG00000185359 ENSE00001296545 intron_variant 0.198637 0.15411 0.05781 0.12324 0.765777441800491 0.126146 0.131424768706374 FALSE 2.43908e-05 ENSE00001296545_013 ENSE00001296545 013 17 79668028 79668197 + 47 87 36 G A 79668107 3544 80 TGCGGGTGCCGCTGTGAGGCCCCGGGAATGGCTCACCTGCTGGTACATGGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGGCAGAGATGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAGACGTCAGATGTGAGAGAGTAGCCCTGTGACCAGG 81700997 81701167 81701076 81701077 81701077 exon 33 0.379310344827586 CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCATCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA mutant NA NA NA NA NA 192 130 0.962980216313704 0.956711034528155 0.95984562542093 0.85 0.85 1 0.946873002542106 NA NA -0.0370197836862958 0.00983803198604827 0.85 0.973436501271053 NA -0.0135908758501238 NA FALSE NA 0 -1.273 rs138260090 intron_variant&non_coding_transcript_variant MODIFIER HGS HGNC 4897 ENST00000573949 1/1 rs138260090 1 A:0.0012 A:0.0015 A:0 NA A:0.004 A:0 A:0 A:0.0005 A:0 CGT G,A 0.0001318 17:81701077 HGS HGNC Symbol protein_coding 19812 ENSG00000185359 ENSE00001296545 synonymous_variant 0.789886 0.1468 0.06247 0.67177 0.636191455795708 0 0.131424768706374 FALSE 0.000117847 ENSE00001296545_014 ENSE00001296545 014 17 79668028 79668197 + 47 87 36 C T 79668114 3545 87 TGCGGGTGCCGCTGTGAGGCCCCGGGAATGGCTCACCTGCTGGTACATGGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGACAGAGACGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAGACGTCAGATGTGAGAGAGTAGCCCTGTGACCAGG 81700997 81701167 81701083 81701084 81701084 exon 40 0.459770114942529 CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGTCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA mutant NA NA NA NA NA 561 305 0.949493854384995 0.918404450840286 0.933949152612641 0.85 0.85 1 0.946873002542106 NA NA -0.050506145615005 -0.0284685517018203 0.85 0.973436501271053 NA -0.0394873486584126 NA FALSE NA 1 2.485 . intron_variant&non_coding_transcript_variant MODIFIER HGS HGNC 4897 ENST00000573949 1/1 1 NA GCC C,T 8.237e-06 17:81701084 HGS HGNC Symbol protein_coding 19812 ENSG00000185359 ENSE00001296545 missense_variant 3.265168 0.92817 0.97234 0.67177 0.99689602920842 0 0.131424768706374 FALSE 4.06398e-06 ENSE00001296545_026 ENSE00001296545 026 17 79668028 79668197 + 47 87 36 C T 79668149 3557 122 TGCGGGTGCCGCTGTGAGGCCCCGGGAATGGCTCACCTGCTGGTACATAGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGGCAGAGACGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAGACGTCAGATGTGAGAGAGTAGCCCTGTGACCAGG 81700997 81701167 81701118 81701119 81701119 exon -13 0.862068965517241 CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCTATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA mutant 42 27 0.85 0.85 0.85 32 138 0.960949028989581 0.95 0.95547451449479 0.85 0.85 1 0.946873002542106 1.11022302462516e-16 1.11022302462516e-16 -0.0390509710104193 0.00312699745789347 0.85 0.973436501271053 1.11022302462516e-16 -0.0179619867762629 0.017961986776263 FALSE FALSE 0.024 0.293 rs141545013 intron_variant&non_coding_transcript_variant MODIFIER HGS HGNC 4897 ENST00000573949 1/1 rs141545013 1 NA T:0 T:0.0002 CCA C,T 5.767e-05 17:81701119 HGS HGNC Symbol protein_coding 19812 ENSG00000185359 ENSE00001296545 synonymous_variant 1.072101 0.91933 0.62338 0.67177 0.701573010941977 0 0.131424768706374 FALSE 5.28778e-05 ENSE00001296545_027 ENSE00001296545 027 17 79668028 79668197 + 47 87 36 T C 79668151 3558 124 TGCGGGTGCCGCTGTGAGGCCCCGGGAATGGCTCACCTGCTGGTACGTGGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGGCAGAGACGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAGACGTCAGATGTGAGAGAGTAGCCCTGTGACCAGG 81700997 81701167 81701120 81701121 81701121 exon -11 0.885057471264368 CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCACGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA mutant NA NA NA NA NA 161 36 0.990971915787843 1 0.995485957893921 0.85 0.85 1 0.946873002542106 NA NA -0.00902808421215728 0.0531269974578935 0.85 0.973436501271053 NA 0.0220494566228681 NA FALSE NA 1 5.309 . intron_variant&non_coding_transcript_variant MODIFIER HGS HGNC 4897 ENST00000573949 1/1 rs559589074 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 1.648e-05 17:81701121 HGS HGNC Symbol protein_coding 19812 ENSG00000185359 ENSE00001296545 missense_variant 0.854701 0.93598 0.96955 0.67177 0.869477942168487 0 0.131424768706374 FALSE 8.13471e-06 ENSE00001296545_036 ENSE00001296545 036 17 79668028 79668197 + 47 87 36 C T 79668179 3567 152 TGCGGGTGCCGCTGTGAGACCCCGGGAATGGCTCACCTGCTGGTACATGGGCTGCTGCCCCGCGATGTAGGGCTGCTGGGGTGGCAGAGACGCATCCTGGCTTGGGAGGGTGGTCATGAGATTCTGTTGTGAGAAGACGTCAGATGTGAGAGAGTAGCCCTGTGACCAGG 81700997 81701167 81701148 81701149 81701149 downstr_intron 18 1.51428571428571 CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGTCTCACAGCGGCACCCGCA CCTGGTCACAGGGCTACTCTCTCACATCTGACGTCTTCTCACAACAGAATCTCATGACCACCCTCCCAAGCCAGGATGCGTCTCTGCCACCCCAGCAGCCCTACATCGCGGGGCAGCAGCCCATGTACCAGCAGGTGAGCCATTCCCGGGGCCTCACAGCGGCACCCGCA mutant NA NA NA NA NA 171 66 0.997075743629345 0.966503349785124 0.981789546707234 0.85 0.85 1 0.946873002542106 NA NA -0.0029242563706553 0.019630347243017 0.85 0.973436501271053 NA 0.00835304543618087 NA FALSE NA 0 -0.883 . intron_variant&non_coding_transcript_variant MODIFIER HGS HGNC 4897 ENST00000573949 1/1 1 NA GCC C,T 7.416e-05 17:81701149 HGS HGNC Symbol protein_coding 19812 ENSG00000185359 ENSE00001296545 intron_variant 0.332686 0.21039 0.0311 0.115753 0.683007043810581 0.0543041 0.131424768706374 FALSE 8.55815e-05 ENSE00001296610_000 ENSE00001296610 000 10 106899110 106899279 + 45 90 35 NA NA NA NA NA ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 NA NA NA NA NA NA ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC natural 17 21 0.998283007624783 0.988161604891926 0.993222306258355 283 936 0.953049663838615 0.985277067486261 0.969163365662438 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 0 0 0 0 0.993222306258355 0.969163365662438 0 0 0 FALSE FALSE NA NA NA NA NA SORCS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SORCS3 NA NA NA ENSG00000156395 ENSE00001296610 NA NA NA NA NA NA NA 0.325134263508276 FALSE NA ENSE00001296610_001 ENSE00001296610 001 10 106899110 106899279 + 45 90 35 C A 106899124 2499 15 ATCTGTGGCCTCATATGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139365 105139366 105139366 upstr_intron -31 -0.666666666666667 ATCTGTGGCCTCATATGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 191 295 0.98527433813406 1 0.99263716906703 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0322246742954446 0.0147229325137389 0.993222306258355 0.969163365662438 NA 0.0234738034045918 NA FALSE NA 0.424 0.202 . intron_variant MODIFIER SORCS3 HGNC 16699 ENST00000369701 7/26 1 NA TCT C 8.236e-06 10:105139366 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 intron_variant 2.472024 0.98185 0.75353 0.061011 0.885588999922418 0.3546 0.325134263508276 FALSE 8.1578e-06 ENSE00001296610_003 ENSE00001296610 003 10 106899110 106899279 + 45 90 35 T C 106899136 2501 27 ATCTGTGGCCTCATCTGATCTCTTTGCGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139377 105139378 105139378 upstr_intron -19 -0.4 ATCTGTGGCCTCATCTGATCTCTTTGCGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 105 22 1 1 1 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0469503361613849 0.0147229325137389 0.993222306258355 0.969163365662438 NA 0.0308366343375619 NA FALSE NA 1 3.986 . intron_variant MODIFIER SORCS3 HGNC 16699 ENST00000369701 7/26 1 NA GTG T 8.236e-06 10:105139378 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 intron_variant 1.315482 0.42751 0.92062 0.061011 0.829874774146173 0.938421 0.325134263508276 FALSE 4.07588e-06 ENSE00001296610_006 ENSE00001296610 006 10 106899110 106899279 + 45 90 35 A G 106899157 2504 48 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTGACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139398 105139399 105139399 exon 3 0.0333333333333333 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTGACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 214 24 0.995491246997844 1 0.997745623498922 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0424415831592287 0.0147229325137389 0.993222306258355 0.969163365662438 NA 0.0285822578364838 NA FALSE NA 0.901 -0.034 . splice_region_variant&synonymous_variant LOW SORCS3 HGNC 16699 ENST00000369701 8/27 1 NA TAA A 0.0001565 10:105139399 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 splice_region_variant 1.891671 0.97174 0.42153 0.487112 0.87137206660158 0 0.325134263508276 FALSE 0.000232198 ENSE00001296610_007 ENSE00001296610 007 10 106899110 106899279 + 45 90 35 A G 106899161 2505 52 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAGCTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139402 105139403 105139403 exon 7 0.0777777777777778 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAGCTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 418 12 0.998014133045449 1 0.999007066522724 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0449644692068338 0.0147229325137389 0.993222306258355 0.969163365662438 NA 0.0298437008602864 NA FALSE NA 0.002 1.585 . missense_variant MODERATE SORCS3 HGNC 16699 ENST00000369701 8/27 rs562609185 1 tolerated(0.29) benign(0.001) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAC A 0.0001071 10:105139403 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 missense_variant 1.114287 0.29263 0.16563 0.487112 0.969516298884204 0 0.325134263508276 FALSE 0.000118126 ENSE00001296610_008 ENSE00001296610 008 10 106899110 106899279 + 45 90 35 A G 106899164 2506 55 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTGGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139405 105139406 105139406 exon 10 0.111111111111111 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTGGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 303 95 1 0.993321793277658 0.996660896638829 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0469503361613849 0.00804472579139726 0.993222306258355 0.969163365662438 NA 0.0274975309763911 NA FALSE NA 1 3.498 . missense_variant MODERATE SORCS3 HGNC 16699 ENST00000369701 8/27 1 tolerated(1) benign(0) NA TAG A 8.236e-06 10:105139406 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 missense_variant 0.624435 0.92664 0.28399 0.553676 0.322315233437573 0 0.325134263508276 FALSE 4.07315e-06 ENSE00001296610_009 ENSE00001296610 009 10 106899110 106899279 + 45 90 35 G C 106899171 2507 62 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAACAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139412 105139413 105139413 exon 17 0.188888888888889 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAACAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 97 51 0.924635696061094 1 0.962317848030547 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA -0.0284139677775214 0.0147229325137389 0.993222306258355 0.969163365662438 NA -0.00684551763189123 NA FALSE NA 1 7.567 . missense_variant MODERATE SORCS3 HGNC 16699 ENST00000369701 8/27 1 deleterious(0) probably_damaging(0.954) NA AGA G 8.236e-06 10:105139413 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 missense_variant 6.745128 0.99604 0.9915 0.553676 0.986555161867063 0 0.325134263508276 FALSE 4.07335e-06 ENSE00001296610_010 ENSE00001296610 010 10 106899110 106899279 + 45 90 35 G A 106899177 2508 68 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAACTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139418 105139419 105139419 exon 23 0.255555555555556 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAACTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 43 358 1 0.998605962844663 0.999302981422332 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0469503361613849 0.0133288953584021 0.993222306258355 0.969163365662438 NA 0.0301396157598935 NA FALSE NA 1 0.927 . missense_variant MODERATE SORCS3 HGNC 16699 ENST00000369701 8/27 1 tolerated(0.21) benign(0.001) NA AGC G 4.942e-05 10:105139419 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 missense_variant 1.955404 0.97523 0.77848 0.553676 0.949080435022194 0 0.325134263508276 FALSE 8.14598e-05 ENSE00001296610_011 ENSE00001296610 011 10 106899110 106899279 + 45 90 35 A G 106899183 2509 74 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTGCGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139424 105139425 105139425 exon 29 0.322222222222222 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTGCGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 199 389 1 1 1 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0469503361613849 0.0147229325137389 0.993222306258355 0.969163365662438 NA 0.0308366343375619 NA FALSE NA 1 4.787 . missense_variant MODERATE SORCS3 HGNC 16699 ENST00000369701 8/27 1 deleterious(0) probably_damaging(0.99) NA TAC A 8.236e-06 10:105139425 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 missense_variant 6.038053 0.99046 0.9708 0.553676 0.998525808694769 0 0.325134263508276 FALSE 4.07256e-06 ENSE00001296610_014 ENSE00001296610 014 10 106899110 106899279 + 45 90 35 C T 106899204 2512 95 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGTCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139445 105139446 105139446 exon -41 0.555555555555556 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGTCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 181 10 0.997703894396375 0.968011676886227 0.982857785641301 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0446542305577596 -0.0172653906000343 0.993222306258355 0.969163365662438 NA 0.0136944199788627 NA FALSE NA 0.879 3.74 . missense_variant MODERATE SORCS3 HGNC 16699 ENST00000369701 8/27 1 tolerated(0.21) benign(0.059) NA GCC C 8.236e-06 10:105139446 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 missense_variant 3.81074 0.98745 0.90659 0.553676 0.995756775558647 0 0.325134263508276 FALSE 4.07362e-06 ENSE00001296610_015 ENSE00001296610 015 10 106899110 106899279 + 45 90 35 C T 106899205 2513 96 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCTTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139446 105139447 105139447 exon -40 0.566666666666667 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCTTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 31 259 1 1 1 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0469503361613849 0.0147229325137389 0.993222306258355 0.969163365662438 NA 0.0308366343375619 NA FALSE NA 0.843 0.08 . synonymous_variant LOW SORCS3 HGNC 16699 ENST00000369701 8/27 1 NA CCT C 8.237e-06 10:105139447 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 synonymous_variant 2.297668 0.97728 0.65079 0.553676 0.734712877539031 0 0.325134263508276 FALSE 4.07355e-06 ENSE00001296610_016 ENSE00001296610 016 10 106899110 106899279 + 45 90 35 A C 106899228 2514 119 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTACGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139469 105139470 105139470 exon -17 0.822222222222222 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTACGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 1751 652 0.999694062848311 0.935111666190893 0.967402864519602 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0466443990096961 -0.0501654012953685 0.993222306258355 0.969163365662438 NA -0.00176050114283621 NA FALSE NA 1 8.92 . missense_variant MODERATE SORCS3 HGNC 16699 ENST00000369701 8/27 1 deleterious(0) probably_damaging(0.992) NA AAG A 8.236e-06 10:105139470 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 missense_variant 5.195482 0.99453 0.99276 0.553676 0.997575152520957 0 0.325134263508276 FALSE 4.07501e-06 ENSE00001296610_017 ENSE00001296610 017 10 106899110 106899279 + 45 90 35 C T 106899234 2515 125 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTTGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139475 105139476 105139476 exon -11 0.888888888888889 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTTGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 933 653 1 1 1 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0469503361613849 0.0147229325137389 0.993222306258355 0.969163365662438 NA 0.0308366343375619 NA FALSE NA 0.998 3.709 . missense_variant MODERATE SORCS3 HGNC 16699 ENST00000369701 8/27 1 deleterious(0) possibly_damaging(0.511) NA TCG C 8.237e-06 10:105139476 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 missense_variant 5.805025 0.99258 0.96558 0.553676 0.998599454459757 0 0.325134263508276 FALSE 1.22268e-05 ENSE00001296610_018 ENSE00001296610 018 10 106899110 106899279 + 45 90 35 G A 106899235 2516 126 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCATTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139476 105139477 105139477 exon -10 0.9 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCATTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 21 22 1 0.973816166172841 0.986908083086421 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0469503361613849 -0.0114609013134198 0.993222306258355 0.969163365662438 NA 0.0177447174239825 NA FALSE NA 0 -4.098 . synonymous_variant LOW SORCS3 HGNC 16699 ENST00000369701 8/27 rs200513328 1 A:0.0006 A:0 A:0 NA A:0.002 A:0 A:0.001 CGT G 0.0001318 10:105139477 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 synonymous_variant 1.63502 0.07372 0.01729 0.553676 0.60063115911444 0 0.325134263508276 FALSE 0.000154887 ENSE00001296610_019 ENSE00001296610 019 10 106899110 106899279 + 45 90 35 A C 106899252 2517 143 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCCTGCACCACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139493 105139494 105139494 downstr_intron 8 1.23529411764706 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCCTGCACCACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 117 544 0.992745852553663 0.994004978408122 0.993375415480893 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.039696188715048 0.0087279109218612 0.993222306258355 0.969163365662438 NA 0.0242120498184546 NA FALSE NA 0 0.096 . splice_region_variant&intron_variant LOW SORCS3 HGNC 16699 ENST00000369701 8/26 rs375030979 1 NA C:0 C:0.0001 CAT A 8.237e-06 10:105139494 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 splice_region_variant -0.07042 0.24331 0.06091 0.061011 0.282272929527787 0.187849 0.325134263508276 FALSE NA ENSE00001296610_020 ENSE00001296610 020 10 106899110 106899279 + 45 90 35 C T 106899258 2518 149 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACTACTAGCGGTCCTGGGTCCCTC 105139351 105139521 105139499 105139500 105139500 downstr_intron 14 1.41176470588235 ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACTACTAGCGGTCCTGGGTCCCTC ATCTGTGGCCTCATCTGATCTCTTTGTGTTTCCCCCACAATCTAGGTAACAACTAGTGGAAGAGCCAGCTACTACGTGTCTTATCGAAGAGAGGCCTTTGCTCAGATAAAGCTGCCTAAGTACTCGTTGCCAAAGGTACTGCATGCACCACTAGCGGTCCTGGGTCCCTC mutant NA NA NA NA NA 90 505 0.988984995959396 1 0.994492497979698 0.998283007624783 0.988161604891926 0.953049663838615 0.985277067486261 NA NA 0.0359353321207807 0.0147229325137389 0.993222306258355 0.969163365662438 NA 0.0253291323172598 NA FALSE NA 0 -0.461 . intron_variant MODIFIER SORCS3 HGNC 16699 ENST00000369701 8/26 1 NA CCA C 8.237e-06 10:105139500 SORCS3 HGNC Symbol protein_coding 624134 ENSG00000156395 ENSE00001296610 intron_variant 0.154757 0.26744 0.02796 0.061011 0.459324184173098 0.0510455 0.325134263508276 FALSE 8.16127e-06 ENSE00001296905_000 ENSE00001296905 000 3 49884920 49885089 - 38 84 48 NA NA NA NA NA GGCTTGGAGTTCAGTAGAATCAGATAAATTCTGGGTACCTTTAAGAATTCTGCATCCAAGACATTCTCCTCCTCCTGGGCAAGATCAAAGAAGAGCTTATTGATAATGGTTCTTTTGCCAACCTGGATGGGAGAACAAGGTAAGAGTATGATTGTGTAGCTGGGTCATGC 49847486 49847656 NA NA NA NA NA NA GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC natural 223 172 0.9973599038464 0.994448290260351 0.995904097053375 1743 1665 0.760093340718285 0.821137923571371 0.790615632144828 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 0 0 0 0 0.995904097053375 0.790615632144828 0 0 0 FALSE FALSE NA NA NA NA NA TRAIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAIP NA NA NA ENSG00000183763 ENSE00003492851 NA NA NA NA NA NA NA 0.125103591601554 FALSE NA ENSE00001296905_001 ENSE00001296905 001 3 49884920 49885089 - 38 84 48 G T 49884936 1198 154 GGCTTGGAGTTCAGTATAATCAGATAAATTCTGGGTACCTTTAAGAATTCTGCATCCAAGACATTCTCCTCCTCCTGGGCAAGATCAAAGAAGAGCTTATTGATAATGGTTCTTTTGCCAACCTGGATGGGAGAACAAGGTAAGAGTATGATTGTGTAGCTGGGTCATGC 49847486 49847656 49847502 49847503 49847503 downstr_intron 22 1.59459459459459 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTATACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 733 69 0.890937569194663 1 0.945468784597332 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.130844228476378 0.178862076428629 0.995904097053375 0.790615632144828 NA 0.154853152452504 NA FALSE NA 0.033 2.083 . intron_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 3/4 1 NA AGA G,T 4.942e-05 3:49847503 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 intron_variant 0.026805 0.2545 0.07549 0.106106 0.595261924694166 0.0665779 0.125103591601554 FALSE 3.44184e-05 ENSE00001296905_004 ENSE00001296905 004 3 49884920 49885089 - 38 84 48 A C 49884947 1201 143 GGCTTGGAGTTCAGTAGAATCAGATAACTTCTGGGTACCTTTAAGAATTCTGCATCCAAGACATTCTCCTCCTCCTGGGCAAGATCAAAGAAGAGCTTATTGATAATGGTTCTTTTGCCAACCTGGATGGGAGAACAAGGTAAGAGTATGATTGTGTAGCTGGGTCATGC 49847486 49847656 49847513 49847514 49847514 downstr_intron 11 1.2972972972973 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAAGTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 24 424 1 0.98322376794215 0.991611883971075 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.239906659281715 0.16208584437078 0.995904097053375 0.790615632144828 NA 0.200996251826247 NA FALSE NA 0.001 0.01 . intron_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 3/4 1 NA AAT A,C 1.647e-05 3:49847514 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 intron_variant -0.094432 0.23932 0.13981 0.106106 0.601236222723287 0.0665779 0.125103591601554 FALSE 8.42205e-06 ENSE00001296905_005 ENSE00001296905 005 3 49884920 49885089 - 38 84 48 T C 49884955 1202 135 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTGCCCAGAATTTATCTGATTCTACTGAACTCCAAGCC 49847486 49847656 49847521 49847522 49847522 downstr_intron 3 1.08108108108108 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTGCCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 239 56 0.822336994847857 0.808948360454627 0.815642677651242 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.0622436541295723 -0.0121895631167439 0.995904097053375 0.790615632144828 NA 0.0250270455064142 NA FALSE NA 0.999 3.11 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TRAIP HGNC 30764 ENST00000473863 3/4 1 NA GTA T,C 8.236e-06 3:49847522 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 splice_region_variant 1.508684 0.99179 0.95733 0.106106 0.957803966358819 0.965939 0.125103591601554 FALSE 8.35436e-06 ENSE00001296905_006 ENSE00001296905 006 3 49884920 49885089 - 38 84 48 G C 49885012 1203 78 GGCTTGGAGTTCAGTAGAATCAGATAAATTCTGGGTACCTTTAAGAATTCTGCATCCAAGACATTCTCCTCCTCCTGGGCAAGATCAAAGAACAGCTTATTGATAATGGTTCTTTTGCCAACCTGGATGGGAGAACAAGGTAAGAGTATGATTGTGTAGCTGGGTCATGC 49847486 49847656 49847578 49847579 49847579 exon 30 0.357142857142857 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTGTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 109 227 0.99299950565041 0.99462758503643 0.99381354534342 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.232906164932125 0.173489661465059 0.995904097053375 0.790615632144828 NA 0.203197913198592 NA FALSE NA 1 0.989 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 3/5 rs200911597 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AGA G,C 8.236e-06 3:49847579 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 synonymous_variant 0.778804 0.9676 0.70881 0.732398 0.715623458595384 0 0.125103591601554 FALSE 4.1138e-06 ENSE00001296905_007 ENSE00001296905 007 3 49884920 49885089 - 38 84 48 T C 49885016 1204 74 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAGGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC 49847486 49847656 49847582 49847583 49847583 exon 26 0.30952380952381 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAGGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 395 119 0.989450385801321 1 0.994725192900661 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.229357045083036 0.178862076428629 0.995904097053375 0.790615632144828 NA 0.204109560755833 NA FALSE NA 1 3.924 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 3/5 1 NA CTT T,C 1.647e-05 3:49847583 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 missense_variant 3.922453 0.98299 0.92315 0.732398 0.995132353361462 0 0.125103591601554 FALSE 4.95074e-05 ENSE00001296905_008 ENSE00001296905 008 3 49884920 49885089 - 38 84 48 T C 49885026 1205 64 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCGTTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC 49847486 49847656 49847592 49847593 49847593 exon 16 0.19047619047619 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCGTTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 279 536 0.992699087988906 0.997928928102747 0.995314008045827 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.232605747270621 0.176791004531377 0.995904097053375 0.790615632144828 NA 0.204698375900999 NA FALSE NA 1 5.032 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 3/5 rs368986227 1 NA C:0 C:0.0001 ATG T,C 8.236e-06 3:49847593 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 missense_variant 5.297658 0.9899 0.97 0.732398 0.993151911100712 0 0.125103591601554 FALSE NA ENSE00001296905_009 ENSE00001296905 009 3 49884920 49885089 - 38 84 48 A T 49885039 1206 51 GGCTTGGAGTTCAGTAGAATCAGATAAATTCTGGGTACCTTTAAGAATTCTGCATCCAAGACATTCTCCTCCTCCTGGGCAAGATCAAAGAAGAGCTTATTGATAATGGTTCTTTTGCCTACCTGGATGGGAGAACAAGGTAAGAGTATGATTGTGTAGCTGGGTCATGC 49847486 49847656 49847605 49847606 49847606 exon 3 0.0357142857142857 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTAGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 99 363 0.994030997410357 0.866312175034614 0.930171586222486 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.233937656692072 0.0451742514632437 0.995904097053375 0.790615632144828 NA 0.139555954077658 NA FALSE NA 1 1.057 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW TRAIP HGNC 30764 ENST00000473863 3/5 rs373482545 1 NA T:0 T:0.0001 CAA A,T 8.236e-06 3:49847606 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 splice_region_variant 1.931795 0.97358 0.82674 0.732398 0.809251388558001 0 0.125103591601554 FALSE 4.15017e-06 ENSE00001296905_011 ENSE00001296905 011 3 49884920 49885089 - 38 84 48 G C 49885050 1208 40 GGCTTGGAGTTCAGTAGAATCAGATAAATTCTGGGTACCTTTAAGAATTCTGCATCCAAGACATTCTCCTCCTCCTGGGCAAGATCAAAGAAGAGCTTATTGATAATGGTTCTTTTGCCAACCTGGATGGCAGAACAAGGTAAGAGTATGATTGTGTAGCTGGGTCATGC 49847486 49847656 49847616 49847617 49847617 upstr_intron -9 -0.166666666666667 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTGCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 10 680 0 0 0 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA -0.760093340718285 -0.821137923571371 0.995904097053375 0.790615632144828 NA -0.790615632144828 NA TRUE NA 0.719 1.019 . intron_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 2/4 1 NA GGA G,C 8.236e-06 3:49847617 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 intron_variant 1.099762 0.45648 0.41379 0.088506 0.688652162772653 0.331654 0.125103591601554 FALSE 8.3307e-06 ENSE00001296905_012 ENSE00001296905 012 3 49884920 49885089 - 38 84 48 A G 49885051 1209 39 GGCTTGGAGTTCAGTAGAATCAGATAAATTCTGGGTACCTTTAAGAATTCTGCATCCAAGACATTCTCCTCCTCCTGGGCAAGATCAAAGAAGAGCTTATTGATAATGGTTCTTTTGCCAACCTGGATGGGGGAACAAGGTAAGAGTATGATTGTGTAGCTGGGTCATGC 49847486 49847656 49847617 49847618 49847618 upstr_intron -10 -0.1875 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCCCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 964 269 0.926305222317798 0.999411618242988 0.962858420280393 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.166211881599513 0.178273694671617 0.995904097053375 0.790615632144828 NA 0.172242788135565 NA FALSE NA 0.782 3.469 . intron_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 2/4 1 NA GAG A,G 8.236e-06 3:49847618 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 intron_variant 1.611271 0.50824 0.70632 0.088506 0.822697188214298 0.331654 0.125103591601554 FALSE 8.35185e-06 ENSE00001296905_013 ENSE00001296905 013 3 49884920 49885089 - 38 84 48 G A 49885052 1210 38 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTTTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC 49847486 49847656 49847618 49847619 49847619 upstr_intron -11 -0.208333333333333 GCATGACCCAGCTACACAATCATACTCTTACCTTGTTTTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 231 223 0.995273913583882 1 0.997636956791941 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.235180572865597 0.178862076428629 0.995904097053375 0.790615632144828 NA 0.207021324647113 NA FALSE NA 0.748 -0.146 rs139962946 intron_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 2/4 rs139962946 1 A:0.0012 A:0.0038 A:0.0014 NA A:0 A:0 A:0 A:0.0016 A:0 AGA G,A 0.000173 3:49847619 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 intron_variant 1.28576 0.21194 0.15986 0.088506 0.57492570309984 0.223515 0.125103591601554 FALSE 0.000133554 ENSE00001296905_014 ENSE00001296905 014 3 49884920 49885089 - 38 84 48 G C 49885058 1211 32 GGCTTGGAGTTCAGTAGAATCAGATAAATTCTGGGTACCTTTAAGAATTCTGCATCCAAGACATTCTCCTCCTCCTGGGCAAGATCAAAGAAGAGCTTATTGATAATGGTTCTTTTGCCAACCTGGATGGGAGAACAACGTAAGAGTATGATTGTGTAGCTGGGTCATGC 49847486 49847656 49847624 49847625 49847625 upstr_intron -17 -0.333333333333333 GCATGACCCAGCTACACAATCATACTCTTACGTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 861 210 0.999664938747622 1 0.999832469373811 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.239571598029336 0.178862076428629 0.995904097053375 0.790615632144828 NA 0.209216837228983 NA FALSE NA 0.162 1.345 . intron_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 2/4 1 NA AGG G,C 2.471e-05 3:49847625 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 intron_variant 0.823491 0.3665 0.16964 0.106106 0.674446923130649 0.806877 0.125103591601554 FALSE 2.5227e-05 ENSE00001296905_015 ENSE00001296905 015 3 49884920 49885089 - 38 84 48 G A 49885065 1212 25 GCATGACCCAGCTACACAATCATATTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC 49847486 49847656 49847631 49847632 49847632 upstr_intron -24 -0.479166666666667 GCATGACCCAGCTACACAATCATATTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 308 294 0.998926149305121 1 0.99946307465256 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.238832808586836 0.178862076428629 0.995904097053375 0.790615632144828 NA 0.208847442507733 NA FALSE NA 0.837 0.065 . intron_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 2/4 rs374080903 1 NA A:0.0002 A:0 AGT G,A 8.236e-06 3:49847632 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 intron_variant 0.754308 0.18333 0.03373 0.106106 0.69916748840605 0.0684695 0.125103591601554 FALSE 4.31228e-06 ENSE00001296905_016 ENSE00001296905 016 3 49884920 49885089 - 38 84 48 G A 49885069 1213 21 GCATGACCCAGCTACACAATTATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC 49847486 49847656 49847635 49847636 49847636 upstr_intron -28 -0.5625 GCATGACCCAGCTACACAATTATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC mutant NA NA NA NA NA 344 40 0.993741281248006 1 0.996870640624003 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 NA NA 0.233647940529721 0.178862076428629 0.995904097053375 0.790615632144828 NA 0.206255008479175 NA FALSE NA 0.967 2.155 . intron_variant&non_coding_transcript_variant MODIFIER TRAIP HGNC 30764 ENST00000473863 2/4 1 NA TGA G,A 8.236e-06 3:49847636 TRAIP HGNC Symbol protein_coding 27975 ENSG00000183763 ENSE00003492851 intron_variant 0.661452 0.23092 0.41196 0.106106 0.707687048351821 0.0477975 0.125103591601554 FALSE 4.32189e-06 ENSE00001296905_BRK ENSE00001296905 BRK 3 49884920 49885089 - 38 84 48 A,G; T,T NA NA NA GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCTTGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGCCACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC 49847486 49847656 NA NA NA NA NA NA GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCTTGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGCCACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC GCATGACCCAGCTACACAATCATACTCTTACCTTGTTCTCCCATCCAGGTTGGCAAAAGAACCATTATCAATAAGCTCTTCTTTGATCTTGCCCAGGAGGAGGAGAATGTCTTGGATGCAGAATTCTTAAAGGTACCCAGAATTTATCTGATTCTACTGAACTCCAAGCC control 71 167 0 0 0 235 75 0.0269482685404241 0.00491256196586157 0.0159304152531428 0.9973599038464 0.994448290260351 0.760093340718285 0.821137923571371 -0.9973599038464 -0.994448290260351 -0.733145072177861 -0.816225361605509 0.995904097053375 0.790615632144828 -0.995904097053375 -0.774685216891685 0.22121888016169 TRUE TRUE NA NA NA NA NA TRAIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAIP NA NA NA ENSG00000183763 ENSE00003492851 NA NA NA NA NA NA NA 0.125103591601554 FALSE NA ENSE00001296991_000 ENSE00001296991 000 14 73002849 73003018 + 45 90 35 NA NA NA NA NA GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT 72536140 72536310 NA NA NA NA NA NA GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT natural 22 38 0.999193815245069 0.97677242498657 0.987983120115819 1089 664 0.999279767675445 0.995884364909892 0.997582066292668 0.999193815245069 0.97677242498657 0.999279767675445 0.995884364909892 0 0 0 0 0.987983120115819 0.997582066292668 0 0 0 FALSE FALSE NA NA NA NA NA RGS6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS6 NA NA NA ENSG00000182732 ENSE00001296991 NA NA NA NA NA NA NA 0.801361182566502 FALSE NA ENSE00001296991_001 ENSE00001296991 001 14 73002849 73003018 + 45 90 35 C T 73002881 945 33 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCATCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT 72536140 72536310 72536172 72536173 72536173 upstr_intron -13 -0.266666666666667 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCATCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT mutant NA NA NA NA NA 98 14 1 1 1 0.999193815245069 0.97677242498657 0.999279767675445 0.995884364909892 NA NA 0.000720232324555203 0.00411563509010782 0.987983120115819 0.997582066292668 NA 0.00241793370733151 NA FALSE NA 0.003 0.51 . upstream_gene_variant MODIFIER RGS6 HGNC 10002 ENST00000554300 1 NA ACC C,T 8.236e-06 14:72536173 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00001296991 intron_variant 1.827814 0.2835 0.12118 0 0.830925992086559 0.336308 0.801361182566502 FALSE 4.06388e-06 ENSE00001296991_003 ENSE00001296991 003 14 73002849 73003018 + 45 90 35 G A 73002896 947 48 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAACACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT 72536140 72536310 72536187 72536188 72536188 exon 3 0.0333333333333333 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAACACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT mutant NA NA NA NA NA 74 162 1 0.99664183168931 0.998320915844655 0.999193815245069 0.97677242498657 0.999279767675445 0.995884364909892 NA NA 0.000720232324555203 0.000757466779417348 0.987983120115819 0.997582066292668 NA 0.000738849551986276 NA FALSE NA 1 0.744 . upstream_gene_variant MODIFIER RGS6 HGNC 10002 ENST00000554300 1 NA AGC G,A 0.0001071 14:72536188 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00001296991 splice_region_variant 1.046476 0.97404 0.82754 0.740787 0.811361933749175 0 0.801361182566502 FALSE 9.75039e-05 ENSE00001296991_009 ENSE00001296991 009 14 73002849 73003018 + 45 90 35 G A 73002977 953 129 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAAAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT 72536140 72536310 72536268 72536269 72536269 exon -7 0.933333333333333 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAAAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT mutant NA NA NA NA NA 65 284 1 0.992419586506403 0.996209793253202 0.999193815245069 0.97677242498657 0.999279767675445 0.995884364909892 NA NA 0.000720232324555203 -0.0034647784034888 0.987983120115819 0.997582066292668 NA -0.0013722730394668 NA FALSE NA 1 3.616 . upstream_gene_variant MODIFIER RGS6 HGNC 10002 ENST00000554300 1 NA AGA G,A 8.236e-06 14:72536269 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00001296991 synonymous_variant 1.248353 0.98631 0.93379 0.653281 0.656630094034144 0 0.801361182566502 FALSE NA ENSE00001296991_012 ENSE00001296991 012 14 73002849 73003018 + 45 90 35 C T 73003000 956 152 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGTAGGCTTGCTCTTAGCACT 72536140 72536310 72536291 72536292 72536292 downstr_intron 17 1.5 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGTAGGCTTGCTCTTAGCACT GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT mutant NA NA NA NA NA 199 24 0.977301834192971 1 0.988650917096486 0.999193815245069 0.97677242498657 0.999279767675445 0.995884364909892 NA NA -0.0219779334824733 0.00411563509010782 0.987983120115819 0.997582066292668 NA -0.00893114919618276 NA FALSE NA 1 3.56 . upstream_gene_variant MODIFIER RGS6 HGNC 10002 ENST00000554300 rs371572713 1 T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 T:0.0007 T:0.0006 GCA C,T 0.0006424 14:72536292 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00001296991 intron_variant 2.560271 0.98562 0.96407 0.074388 0.838488474145353 0.979967 0.801361182566502 FALSE 0.00063377 ENSE00001296991_013 ENSE00001296991 013 14 73002849 73003018 + 45 90 35 G C 73003003 957 155 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGCCTTGCTCTTAGCACT 72536140 72536310 72536294 72536295 72536295 downstr_intron 20 1.58823529411765 GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGCCTTGCTCTTAGCACT GGTTGACAGCCCTTCCTTGTGTCTCCTTGTCACCTTCCTCCCCAGGAGCACATCTACAAGCTGATGAAGAGTGACAGCTATGCCCGCTTCCTCCGGTCAAATGCTTACCAGGATTTGCTGCTGGCCAAGAAGAAGGTATCTTTGGGAAGGGCAGGCTTGCTCTTAGCACT mutant NA NA NA NA NA 84 178 1 1 1 0.999193815245069 0.97677242498657 0.999279767675445 0.995884364909892 NA NA 0.000720232324555203 0.00411563509010782 0.987983120115819 0.997582066292668 NA 0.00241793370733151 NA FALSE NA 0.998 1.934 NA NA NA RGS6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:72536295 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00001296991 intron_variant 1.677054 0.9776 0.79027 0.074388 0.81792630735451 0.455059 0.801361182566502 FALSE 0.0024174 ENSE00001297413_000 ENSE00001297413 000 22 32463894 32464063 + 60 60 50 NA NA NA NA NA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 NA NA NA NA NA NA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA natural 138 197 0.992411384114089 0.965381958997883 0.978896671555986 2986 2363 0.944062423383513 0.949217385332199 0.946639904357856 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 0 0 0 0 0.978896671555986 0.946639904357856 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A1 NA NA NA ENSG00000100170 ENSE00003564125 NA NA NA NA NA NA NA 0.00803119583011728 FALSE NA ENSE00001297413_001 ENSE00001297413 001 22 32463894 32464063 + 60 60 50 G A 32463913 578 20 GGTGGCAGGGATGGGCTAAATTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32067925 32067926 32067926 upstr_intron -41 -0.666666666666667 GGTGGCAGGGATGGGCTAAATTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 57 15 1 1 1 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0559375766164875 0.0507826146678009 0.978896671555986 0.946639904357856 NA 0.0533600956421442 NA FALSE NA 0 0.022 NA NA NA SLC5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:32067926 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 intron_variant 0.21576 0.18734 0.01563 0.06567 0.529287864382878 0.0455939 0.00803119583011728 FALSE 8.12196e-06 ENSE00001297413_005 ENSE00001297413 005 22 32463894 32464063 + 60 60 50 C T 32463932 582 39 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTTCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32067944 32067945 32067945 upstr_intron -22 -0.35 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTTCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 50 145 1 0.995963358312007 0.997981679156004 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0559375766164875 0.046745972979808 0.978896671555986 0.946639904357856 NA 0.0513417747981477 NA FALSE NA 0 0.212 . intron_variant MODIFIER SLC5A1 HGNC 11036 ENST00000543737 2/13 1 NA TCC C,T 1.647e-05 22:32067945 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 intron_variant 0.412438 0.18675 0.00866 0.06567 0.552189145817678 0.0455939 0.00803119583011728 FALSE 3.65509e-05 ENSE00001297413_007 ENSE00001297413 007 22 32463894 32464063 + 60 60 50 C G 32463957 584 64 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCGTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32067969 32067970 32067970 exon 4 0.0666666666666667 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCGTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 611 463 0.996981917705444 1 0.998490958852722 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0529194943219315 0.0507826146678009 0.978896671555986 0.946639904357856 NA 0.0518510544948662 NA FALSE NA 0.867 2.331 . 5_prime_UTR_variant MODIFIER SLC5A1 HGNC 11036 ENST00000543737 3/14 1 NA CCT C,G 8.236e-06 22:32067970 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 missense_variant 1.862006 0.98695 0.941 0.487112 0.976394974043351 0 0.00803119583011728 FALSE 4.06128e-06 ENSE00001297413_008 ENSE00001297413 008 22 32463894 32464063 + 60 60 50 T G 32463985 585 92 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCGGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32067997 32067998 32067998 exon -29 0.533333333333333 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCGGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 439 711 1 0.997726560463126 0.998863280231563 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0559375766164875 0.0485091751309265 0.978896671555986 0.946639904357856 NA 0.052223375873707 NA FALSE NA 0.998 7.604 . 5_prime_UTR_variant MODIFIER SLC5A1 HGNC 11036 ENST00000543737 3/14 1 NA CTG T,G 4.118e-05 22:32067998 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 missense_variant 5.853074 0.98964 0.9836 0.487112 0.997051111903886 0 0.00803119583011728 FALSE 4.06114e-05 ENSE00001297413_009 ENSE00001297413 009 22 32463894 32464063 + 60 60 50 G A 32463986 586 93 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTATTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32067998 32067999 32067999 exon -28 0.55 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTATTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 406 76 1 0.970784538499514 0.985392269249757 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0559375766164875 0.0215671531673149 0.978896671555986 0.946639904357856 NA 0.0387523648919012 NA FALSE NA 0.913 0.06 . 5_prime_UTR_variant MODIFIER SLC5A1 HGNC 11036 ENST00000543737 3/14 1 NA TGT G,A 8.236e-06 22:32067999 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 synonymous_variant 0.676897 0.94667 0.62913 0.487112 0.677574638724249 0 0.00803119583011728 FALSE 1.21843e-05 ENSE00001297413_010 ENSE00001297413 010 22 32463894 32464063 + 60 60 50 T G 32463987 587 94 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGGTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32067999 32068000 32068000 exon -27 0.566666666666667 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGGTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 292 83 1 1 1 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0559375766164875 0.0507826146678009 0.978896671555986 0.946639904357856 NA 0.0533600956421442 NA FALSE NA 1 7.604 . 5_prime_UTR_variant MODIFIER SLC5A1 HGNC 11036 ENST00000543737 3/14 1 NA GTT T,G 8.236e-06 22:32068000 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 missense_variant 5.995278 0.99367 0.98554 0.487112 0.991235505448867 0 0.00803119583011728 FALSE 4.06121e-06 ENSE00001297413_012 ENSE00001297413 012 22 32463894 32464063 + 60 60 50 G T 32464008 589 115 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGTCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32068020 32068021 32068021 exon -6 0.916666666666667 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGTCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 204 80 1 1 1 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0559375766164875 0.0507826146678009 0.978896671555986 0.946639904357856 NA 0.0533600956421442 NA FALSE NA 1 9.313 . 5_prime_UTR_variant MODIFIER SLC5A1 HGNC 11036 ENST00000543737 3/14 CM025448 1 NA GGC G,T 8.236e-06 22:32068021 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 missense_variant 2.847657 0.99548 0.99154 0.487112 0.995843531544555 0 0.00803119583011728 FALSE 4.06134e-06 ENSE00001297413_013 ENSE00001297413 013 22 32463894 32464063 + 60 60 50 G A 32464013 590 120 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGAGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32068025 32068026 32068026 exon -1 1 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGAGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 103 180 0.802526811850642 0.802802005301568 0.802664408576105 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA -0.14153561153287 -0.146415380030631 0.978896671555986 0.946639904357856 NA -0.143975495781751 NA FALSE NA 1 6.248 . splice_region_variant&5_prime_UTR_variant LOW SLC5A1 HGNC 11036 ENST00000543737 3/14 rs200270930 1 NA GGG G,A 5.765e-05 22:32068026 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 splice_region_variant 2.459571 0.99533 0.98034 0.487112 0.976798505619419 0 0.00803119583011728 FALSE 7.71674e-05 ENSE00001297413_014 ENSE00001297413 014 22 32463894 32464063 + 60 60 50 T G 32464028 591 135 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCGGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32068040 32068041 32068041 downstr_intron 15 1.30612244897959 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCGGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 18 128 1 0.986800021632974 0.993400010816487 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0559375766164875 0.037582636300775 0.978896671555986 0.946639904357856 NA 0.0467601064586312 NA FALSE NA 0 -0.106 . intron_variant MODIFIER SLC5A1 HGNC 11036 ENST00000543737 3/13 1 NA CTG T,G 1.647e-05 22:32068041 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 intron_variant 1.985083 0.30445 0.03372 0.06567 0.868230089149439 0.144465 0.00803119583011728 FALSE 2.03079e-05 ENSE00001297413_015 ENSE00001297413 015 22 32463894 32464063 + 60 60 50 C T 32464041 592 148 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTTCTGCTGGCAAATGTATCTGTCA 32067906 32068076 32068053 32068054 32068054 downstr_intron 28 1.57142857142857 GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTTCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA mutant NA NA NA NA NA 1561 287 0.998664589730471 1 0.999332294865235 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 NA NA 0.0546021663469584 0.0507826146678009 0.978896671555986 0.946639904357856 NA 0.0526923905073796 NA FALSE NA 0 -0.057 rs117442236 intron_variant MODIFIER SLC5A1 HGNC 11036 ENST00000543737 3/13 rs117442236 1 T:0.0010 T:0 T:0 NA T:0.005 T:0 T:0 TCC C,T 0.0004448 22:32068054 SLC5A1 HGNC Symbol protein_coding 69997 ENSG00000100170 ENSE00003564125 intron_variant 0.215987 0.20437 0.07478 0.06567 0.552088800452808 0.0455939 0.00803119583011728 FALSE 0.00043467 ENSE00001297413_BRK ENSE00001297413 BRK 22 32463894 32464063 + 60 60 50 A,G; T,T NA NA NA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCTTGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGCCAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA 32067906 32068076 NA NA NA NA NA NA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCTTGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGCCAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA GGTGGCAGGGATGGGCTAAGTTTCCTCCTAATTTGAGTCCACCTTTTGTGTTCATTTCAGGCCCTGGTTTTGGTGGTTGTGCTGGGCTGGCTGTTTGTCCCCATCTATATTAAGGCTGGGGTAAGTATCTGCTCTGTTATTTCATTTCCTGCTGGCAAATGTATCTGTCA control 132 163 0 0 0 NA NA NA NA NA 0.992411384114089 0.965381958997883 0.944062423383513 0.949217385332199 -0.992411384114089 -0.965381958997883 NA NA 0.978896671555986 0.946639904357856 -0.978896671555986 NA NA NA TRUE NA NA NA NA NA SLC5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A1 NA NA NA ENSG00000100170 ENSE00003564125 NA NA NA NA NA NA NA 0.00803119583011728 FALSE NA ENSE00001297505_000 ENSE00001297505 000 18 57105281 57105450 - 62 36 72 NA NA NA NA NA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 NA NA NA NA NA NA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA natural 17 61 0.969792200786021 0.925216065184527 0.947504132985274 1539 2173 0.993902679608197 0.98866147439751 0.991282077002854 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 0 0 0 0 0.947504132985274 0.991282077002854 0 0 0 FALSE FALSE NA NA NA NA NA CCBE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCBE1 NA NA NA ENSG00000183287 ENSE00003528624 NA NA NA NA NA NA NA 1.66521605518147e-06 FALSE NA ENSE00001297505_003 ENSE00001297505 003 18 57105281 57105450 - 62 36 72 G A 57105306 753 145 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAATGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438073 59438074 59438074 downstr_intron 37 1.60655737704918 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAATGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 478 361 0.991337799251359 0.994435808025851 0.992886803638605 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA -0.00256488035683877 0.0057743336283409 0.947504132985274 0.991282077002854 NA 0.00160472663575106 NA FALSE NA 0 -0.64 rs183329787 intron_variant MODIFIER CCBE1 HGNC 29426 ENST00000398179 7/7 rs183329787 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGT G,A 4.118e-05 18:59438074 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant -0.177184 0.04021 0.00048 0.078448 0.593714482283158 0.101519 1.66521605518147e-06 FALSE 3.66664e-05 ENSE00001297505_004 ENSE00001297505 004 18 57105281 57105450 - 62 36 72 C G 57105309 754 142 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGCAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438076 59438077 59438077 downstr_intron 34 1.55737704918033 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGCAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 1598 50 0.980184909515811 1 0.990092454757905 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA -0.0137177700923867 0.0113385256024899 0.947504132985274 0.991282077002854 NA -0.0011896222449484 NA FALSE NA 0 0.229 . intron_variant MODIFIER CCBE1 HGNC 29426 ENST00000398179 7/7 rs202027121 1 G:0.0004 G:0.0008 G:0.0014 NA G:0 G:0 G:0 G:0.0009 G:0 TCC C,G 9.06e-05 18:59438077 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 0.320167 0.25958 0.1292 0.078448 0.689231017148602 0.124516 1.66521605518147e-06 FALSE 6.92137e-05 ENSE00001297505_005 ENSE00001297505 005 18 57105281 57105450 - 62 36 72 C T 57105310 755 141 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGAGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438077 59438078 59438078 downstr_intron 33 1.54098360655738 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGAGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 1813 636 0.970683643681519 0.966972488524787 0.968828066103153 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA -0.0232190359266786 -0.0216889858727229 0.947504132985274 0.991282077002854 NA -0.0224540108997008 NA FALSE NA 0 0.359 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:59438078 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 0.507933 0.19108 0.06634 0.078448 0.799709323453126 0.189737 1.66521605518147e-06 FALSE 4.0707e-06 ENSE00001297505_006 ENSE00001297505 006 18 57105281 57105450 - 62 36 72 C G 57105310 756 141 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGCGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438077 59438078 59438078 downstr_intron 33 1.54098360655738 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGCGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 114 134 1 1 1 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA 0.00609732039180255 0.0113385256024899 0.947504132985274 0.991282077002854 NA 0.00871792299714624 NA FALSE NA 0 0.359 NA NA NA CCBE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCBE1 NA NA NA ENSG00000183287 ENSE00003528624 intron_variant 0.337861 0.20577 0.16886 0.078448 0.64223501826174 0.189737 1.66521605518147e-06 FALSE 8.1414e-06 ENSE00001297505_007 ENSE00001297505 007 18 57105281 57105450 - 62 36 72 G A 57105315 757 136 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCTCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438082 59438083 59438083 downstr_intron 28 1.45901639344262 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCTCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 239 146 0.931476355916268 0.965806677738712 0.94864151682749 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA -0.0624263236919297 -0.0228547966587984 0.947504132985274 0.991282077002854 NA -0.0426405601753641 NA FALSE NA 0 -0.088 . intron_variant MODIFIER CCBE1 HGNC 29426 ENST00000398179 7/7 rs530566950 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGG G,A 8.236e-06 18:59438083 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 0.32499 0.21417 0.05353 0.078448 0.850334046690074 0.17196 1.66521605518147e-06 FALSE 4.06832e-06 ENSE00001297505_008 ENSE00001297505 008 18 57105281 57105450 - 62 36 72 A G 57105319 758 132 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCCTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438086 59438087 59438087 downstr_intron 24 1.39344262295082 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCCTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 691 109 0.996001729166331 0.968250522706017 0.982126125936174 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA 0.002099049558134 -0.0204109516914933 0.947504132985274 0.991282077002854 NA -0.00915595106667966 NA FALSE NA 0.003 0.054 . intron_variant MODIFIER CCBE1 HGNC 29426 ENST00000398179 7/7 1 NA AAG A,G 8.236e-06 18:59438087 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 0.155259 0.24211 0.00631 0.078448 0.54888177205784 0.243324 1.66521605518147e-06 FALSE 4.06597e-06 ENSE00001297505_010 ENSE00001297505 010 18 57105281 57105450 - 62 36 72 C G 57105321 760 130 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTCCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438088 59438089 59438089 downstr_intron 22 1.36065573770492 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTCCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 397 163 0.961955269417491 0.910856883455931 0.936406076436711 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA -0.0319474101907066 -0.0778045909415792 0.947504132985274 0.991282077002854 NA -0.0548760005661429 NA FALSE NA 0.002 -0.471 NA NA NA CCBE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:59438089 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 0.10305 0.26187 0.05242 0.078448 0.58647197398699 0.2734 1.66521605518147e-06 FALSE 4.06659e-06 ENSE00001297505_012 ENSE00001297505 012 18 57105281 57105450 - 62 36 72 C T 57105335 762 116 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAACACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438102 59438103 59438103 downstr_intron 8 1.13114754098361 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAACACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 905 51 1 1 1 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA 0.00609732039180255 0.0113385256024899 0.947504132985274 0.991282077002854 NA 0.00871792299714624 NA FALSE NA 0.703 0.848 . splice_region_variant&intron_variant LOW CCBE1 HGNC 29426 ENST00000398179 7/7 1 NA GCT C,T 8.236e-06 18:59438103 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 splice_region_variant 0.85517 0.6056 0.49094 0.053691 0.513822778265541 0.538183 1.66521605518147e-06 FALSE 4.06382e-06 ENSE00001297505_013 ENSE00001297505 013 18 57105281 57105450 - 62 36 72 C T 57105350 763 101 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGAGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438117 59438118 59438118 exon -8 0.805555555555556 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGAGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 213 90 0.99980663162623 0.996469102425582 0.998137867025906 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA 0.00590395201803262 0.00780762802807222 0.947504132985274 0.991282077002854 NA 0.00685579002305242 NA FALSE NA 1 6.274 . missense_variant MODERATE CCBE1 HGNC 29426 ENST00000398179 7/8 1 probably_damaging(1) NA CCC C,T 8.236e-06 18:59438118 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 missense_variant 7.176824 0.99398 0.98921 0.615465 0.998048149663747 0 1.66521605518147e-06 FALSE 4.06246e-06 ENSE00001297505_014 ENSE00001297505 014 18 57105281 57105450 - 62 36 72 A T 57105361 764 90 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCAGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438128 59438129 59438129 exon 18 0.5 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCAGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant 17 32 0.85 0.85 0.85 306 191 0.981566407500443 0.926293216679529 0.953929812089986 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 -0.119792200786021 -0.0752160651845266 -0.0123362721077547 -0.0623682577179814 0.947504132985274 0.991282077002854 -0.0975041329852737 -0.037352264912868 0.0601518680724057 FALSE FALSE 0.857 0.121 . synonymous_variant LOW CCBE1 HGNC 29426 ENST00000398179 7/8 1 NA CAG A,T 8.236e-06 18:59438129 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 synonymous_variant 0.005142 0.95277 0.63586 0.615465 0.713899738724548 0 1.66521605518147e-06 FALSE 4.06263e-06 ENSE00001297505_015 ENSE00001297505 015 18 57105281 57105450 - 62 36 72 G T 57105362 765 89 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCATGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438129 59438130 59438130 exon 17 0.472222222222222 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCATGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant 19 17 0.85 0.85 0.85 93 522 0.957626963684158 0.947740225720311 0.952683594702234 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 -0.119792200786021 -0.0752160651845266 -0.0362757159240397 -0.0409212486771995 0.947504132985274 0.991282077002854 -0.0975041329852737 -0.0385984823006196 0.0589056506846541 FALSE FALSE 1 7.906 . missense_variant MODERATE CCBE1 HGNC 29426 ENST00000398179 7/8 1 probably_damaging(0.999) NA AGG G,T 8.236e-06 18:59438130 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 missense_variant 6.505392 0.99436 0.99338 0.615465 0.995743210045326 0 1.66521605518147e-06 FALSE 8.12552e-06 ENSE00001297505_020 ENSE00001297505 020 18 57105281 57105450 - 62 36 72 G C 57105388 770 63 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTGTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438155 59438156 59438156 upstr_intron -10 -0.125 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTGTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant 11 58 0.79850796084426 0.85 0.82425398042213 127 1090 0.983331330646203 0.954211645424414 0.968771488035308 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 -0.171284239941761 -0.0752160651845266 -0.0105713489619943 -0.0344498289730966 0.947504132985274 0.991282077002854 -0.123250152563144 -0.0225105889675454 0.100739563595598 FALSE FALSE 0.979 0.356 . intron_variant MODIFIER CCBE1 HGNC 29426 ENST00000398179 6/7 1 NA AGA G,C 8.236e-06 18:59438156 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 1.854083 0.80829 0.75164 0.053691 0.730970040744405 0.358849 1.66521605518147e-06 FALSE 4.06497e-06 ENSE00001297505_021 ENSE00001297505 021 18 57105281 57105450 - 62 36 72 T C 57105405 771 46 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAGGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438172 59438173 59438173 upstr_intron -27 -0.361111111111111 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAGGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant 22 104 0.824676418823974 0.85 0.837338209411987 NA NA NA NA NA 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 -0.145115781962047 -0.0752160651845267 NA NA 0.947504132985274 0.991282077002854 -0.110165923573287 NA NA NA FALSE 0.513 1.531 . intron_variant MODIFIER CCBE1 HGNC 29426 ENST00000398179 6/7 rs568746655 1 C:0.0008 C:0.003 C:0 NA C:0 C:0 C:0 CTT T,C 2.471e-05 18:59438173 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 2.404921 0.8764 0.76748 0.053691 0.807932592546491 0.432568 1.66521605518147e-06 FALSE 2.03518e-05 ENSE00001297505_022 ENSE00001297505 022 18 57105281 57105450 - 62 36 72 T C 57105407 772 44 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGGAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438174 59438175 59438175 upstr_intron -29 -0.388888888888889 GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGGAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 104 333 1 0.953491662250542 0.976745831125271 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA 0.00609732039180255 -0.0351698121469681 0.947504132985274 0.991282077002854 NA -0.0145362458775828 NA FALSE NA 0.268 0.039 . intron_variant MODIFIER CCBE1 HGNC 29426 ENST00000398179 6/7 1 NA TTC T,C 8.236e-06 18:59438175 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 1.693519 0.75996 0.09667 0.053691 0.74655399929647 0.514401 1.66521605518147e-06 FALSE NA ENSE00001297505_023 ENSE00001297505 023 18 57105281 57105450 - 62 36 72 C A 57105416 773 35 GTGTATAAATAGAGACTATTCTTGTGATATCCATTTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438183 59438184 59438184 upstr_intron -38 -0.513888888888889 GTGTATAAATAGAGACTATTCTTGTGATATCCATTTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 218 12 0.995182847141902 1 0.997591423570951 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA 0.00128016753370497 0.0113385256024899 0.947504132985274 0.991282077002854 NA 0.00630934656809745 NA FALSE NA 0 -2.874 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:59438184 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant 0.14175 0.16318 0.03366 0.053691 0.645332145641624 0.153901 1.66521605518147e-06 FALSE 4.08413e-06 ENSE00001297505_024 ENSE00001297505 024 18 57105281 57105450 - 62 36 72 C T 57105416 774 35 GTGTATAAATAGAGACTATTCTTGTGATATCCATATGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438183 59438184 59438184 upstr_intron -38 -0.513888888888889 GTGTATAAATAGAGACTATTCTTGTGATATCCATATGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 470 349 0.987710413914829 0.990035628795488 0.988873021355159 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA -0.0061922656933685 0.00137415439797806 0.947504132985274 0.991282077002854 NA -0.00240905564769522 NA FALSE NA 0 -2.874 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCBE1 NA NA NA ENSG00000183287 ENSE00003528624 intron_variant 0.153158 0.1487 0.02661 0.053691 0.626273045536281 0.153901 1.66521605518147e-06 FALSE 8.16827e-06 ENSE00001297505_030 ENSE00001297505 030 18 57105281 57105450 - 62 36 72 T C 57105424 780 27 GTGTATAAATAGAGACTATTCTTGTGGTATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 59438191 59438192 59438192 upstr_intron -46 -0.625 GTGTATAAATAGAGACTATTCTTGTGGTATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA mutant NA NA NA NA NA 145 53 1 1 1 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 NA NA 0.00609732039180255 0.0113385256024899 0.947504132985274 0.991282077002854 NA 0.00871792299714624 NA FALSE NA 0 -0.72 NA NA NA CCBE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:59438192 CCBE1 HGNC Symbol protein_coding 266440 ENSG00000183287 ENSE00003528624 intron_variant -0.07983 0.09341 0.00117 0.053691 0.422391196361528 0.157544 1.66521605518147e-06 FALSE 8.20378e-06 ENSE00001297505_BRK ENSE00001297505 BRK 18 57105281 57105450 - 62 36 72 A,G; T,T NA NA NA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTTTGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCACCAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA 59438048 59438218 NA NA NA NA NA NA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTTTGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCACCAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA GTGTATAAATAGAGACTATTCTTGTGATATCCATGTGCTCTAGAAAGCTAACCCTGGCCTTTCTGTTTTTAGGGGGAGAGAGGAGCGCCTGGGCCCAGAGGGTCTCCAGTAAGTAGCACTCTGTGTCCTGCTTCCCCAGGGGAACGTTCTCAGGGATGCAGCTCTGATGA control 24 130 0.0536900103132996 0 0.0268450051566498 111 159 0 0.0328046318944697 0.0164023159472349 0.969792200786021 0.925216065184527 0.993902679608197 0.98866147439751 -0.916102190472721 -0.925216065184527 -0.993902679608197 -0.95585684250304 0.947504132985274 0.991282077002854 -0.920659127828624 -0.974879761055619 0.0542206332269949 TRUE TRUE NA NA NA NA NA CCBE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCBE1 NA NA NA ENSG00000183287 ENSE00003528624 NA NA NA NA NA NA NA 1.66521605518147e-06 FALSE NA ENSE00001298506_000 ENSE00001298506 000 1 240966169 240966338 - 35 90 45 NA NA NA NA NA CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 NA NA NA NA NA NA CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT natural 466 636 0.847643940156531 0.815391067936879 0.831517504046705 16441 12040 0.778128031699639 0.785812930617646 0.781970481158643 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 0 0 0 0 0.831517504046705 0.781970481158643 0 0 0 FALSE FALSE NA NA NA NA NA RGS7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS7 NA NA NA ENSG00000182901 ENSE00001298506 NA NA NA NA NA NA NA 0.781745872893189 FALSE NA ENSE00001298506_001 ENSE00001298506 001 1 240966169 240966338 - 35 90 45 A G 240966184 5349 155 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTCGTTTTTTCTTGGCCT 240802868 240803038 240802883 240802884 240802884 downstr_intron 20 1.58823529411765 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTCGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant NA NA NA NA NA 802 475 0.853116329849429 0.75914715987267 0.80613174486105 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 NA NA 0.0749882981497896 -0.0266657707449759 0.831517504046705 0.781970481158643 NA 0.0241612637024068 NA FALSE NA 0.473 0.751 . intron_variant MODIFIER RGS7 HGNC 10003 ENST00000440928 9/11 1 NA CAA A,G 8.237e-06 1:240802884 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 intron_variant 0.015739 0.2807 0.55149 0.084569 0.627603477937617 0.301411 0.781745872893189 FALSE 4.06673e-06 ENSE00001298506_003 ENSE00001298506 003 1 240966169 240966338 - 35 90 45 T G 240966187 5351 152 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGCGTTGTTTTTTCTTGGCCT 240802868 240803038 240802886 240802887 240802887 downstr_intron 17 1.5 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGCGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant 142 149 0.85 0.85 0.85 767 138 0.839251873048232 0.801829259962824 0.820540566505528 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 0.0023560598434692 0.0346089320631207 0.0611238413485925 0.0160163293451773 0.831517504046705 0.781970481158643 0.0184824959532949 0.0385700853468849 0.02008758939359 FALSE FALSE 0.92 0.391 . intron_variant MODIFIER RGS7 HGNC 10003 ENST00000440928 9/11 rs374493831 1 NA G:0 G:0.0001 CTC T,G 8.236e-06 1:240802887 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 intron_variant 0.839077 0.2581 0.32297 0.084569 0.633878970811795 0.233856 0.781745872893189 FALSE 4.06696e-06 ENSE00001298506_004 ENSE00001298506 004 1 240966169 240966338 - 35 90 45 A G 240966196 5352 143 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGCTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 240802895 240802896 240802896 downstr_intron 8 1.23529411764706 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGCTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant NA NA NA NA NA 1800 2269 0.801851070011528 0.800111455452793 0.800981262732161 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 NA NA 0.0237230383118886 0.0142985248351467 0.831517504046705 0.781970481158643 NA 0.0190107815735177 NA FALSE NA 0.97 1.959 . splice_region_variant&intron_variant LOW RGS7 HGNC 10003 ENST00000440928 9/11 1 NA AAC A,G 8.236e-06 1:240802896 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 splice_region_variant 0.44776 0.9312 0.73562 0.084569 0.744274090235948 0.375852 0.781745872893189 FALSE 4.066e-06 ENSE00001298506_005 ENSE00001298506 005 1 240966169 240966338 - 35 90 45 C A 240966198 5353 141 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTTGTTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 240802897 240802898 240802898 downstr_intron 6 1.17647058823529 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTTGTTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant 177 358 0.85 0.85 0.85 1681 596 0.70688792238929 0.877597791403583 0.792242856896437 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 0.00235605984346909 0.0346089320631207 -0.0712401093103493 0.091784860785937 0.831517504046705 0.781970481158643 0.0184824959532949 0.0102723757377938 0.00821012021550105 FALSE FALSE 0.961 0.546 . splice_region_variant&intron_variant LOW RGS7 HGNC 10003 ENST00000440928 9/11 rs201642850 1 A:0.0010 A:0 A:0 NA A:0.005 A:0 A:0 CCA C,A 0.0003542 1:240802898 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 splice_region_variant 1.475141 0.95223 0.77958 0.084569 0.861742107264884 0.850084 0.781745872893189 FALSE 0.000374105 ENSE00001298506_008 ENSE00001298506 008 1 240966169 240966338 - 35 90 45 G A 240966234 5356 105 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCTTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 240802933 240802934 240802934 exon -31 0.666666666666667 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCTTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant 342 292 0.833804769559486 0.689969173411066 0.761886971485276 4039 944 0.6479791024878 0.8 0.7239895512439 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 -0.013839170597045 -0.125421894525814 -0.130148929211839 0.0141870693823537 0.831517504046705 0.781970481158643 -0.0696305325614293 -0.0579809299147429 0.0116496026466865 FALSE FALSE 1 5.645 . synonymous_variant LOW RGS7 HGNC 10003 ENST00000440928 9/12 rs201135677 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGG G,A 1.647e-05 1:240802934 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 synonymous_variant 1.109595 0.9595 0.87731 0.638212 0.637093930838774 0 0.781745872893189 FALSE 8.13002e-06 ENSE00001298506_009 ENSE00001298506 009 1 240966169 240966338 - 35 90 45 A G 240966237 5357 102 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGCGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 240802936 240802937 240802937 exon -34 0.633333333333333 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGCGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant NA NA NA NA NA 1015 564 0.873780011423999 1 0.936890005711999 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 NA NA 0.0956519797243593 0.214187069382354 0.831517504046705 0.781970481158643 NA 0.154919524553357 NA FALSE NA 1 6.374 rs114756376 synonymous_variant LOW RGS7 HGNC 10003 ENST00000440928 9/12 rs114756376 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 CAC A,G 0.00014 1:240802937 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 synonymous_variant 0.496424 0.96115 0.89852 0.638212 0.771534045051109 0 0.781745872893189 FALSE 0.000182906 ENSE00001298506_010 ENSE00001298506 010 1 240966169 240966338 - 35 90 45 G A 240966240 5358 99 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCTAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 240802939 240802940 240802940 exon -37 0.6 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCTAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant 338 130 0 0 0 2269 397 0.00901891635242043 0.0426336952516435 0.025826305802032 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 -0.847643940156531 -0.815391067936879 -0.769109115347219 -0.743179235366003 0.831517504046705 0.781970481158643 -0.831517504046705 -0.756144175356611 0.0753733286900942 TRUE TRUE 1 6.688 . synonymous_variant LOW RGS7 HGNC 10003 ENST00000440928 9/12 COSM679756&COSM1146238&COSM1646115 1 NA TGG G,A 8.236e-06 1:240802940 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 synonymous_variant 1.106811 0.96001 0.90405 0.638212 0.713587968948162 0 0.781745872893189 FALSE 8.12955e-06 ENSE00001298506_011 ENSE00001298506 011 1 240966169 240966338 - 35 90 45 T C 240966248 5359 91 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTGTAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 240802947 240802948 240802948 exon -45 0.511111111111111 CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTGTAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant 59 85 0.840653481649285 0.785795902944017 0.813224692296651 1233 772 0.800211652978697 0.801589640379777 0.800900646679237 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 -0.00699045850724622 -0.0295951649928623 0.0220836212790579 0.0157767097621302 0.831517504046705 0.781970481158643 -0.0182928117500543 0.0189301655205941 0.0372229772706483 FALSE FALSE 1 1.675 . missense_variant MODERATE RGS7 HGNC 10003 ENST00000440928 9/12 COSM1157975&COSM1157974&COSM3384695 1 deleterious(0.03) benign(0.021) NA ATA T,C 8.236e-06 1:240802948 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 missense_variant 1.636434 0.93538 0.78326 0.51972 0.98792008821902 0 0.781745872893189 FALSE 4.06474e-06 ENSE00001298506_012 ENSE00001298506 012 1 240966169 240966338 - 35 90 45 T C 240966317 5360 22 CCCAAGAAATCATAAAGAAGCGCCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 240803016 240803017 240803017 upstr_intron -24 -0.511111111111111 CCCAAGAAATCATAAAGAAGCGCCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT mutant 30 45 0.85 0.85 0.85 887 435 0.801089431520423 0.8 0.800544715760212 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 0.00235605984346909 0.0346089320631207 0.0229613998207838 0.0141870693823537 0.831517504046705 0.781970481158643 0.0184824959532949 0.0185742346015688 9.17386482738869e-05 FALSE FALSE 0.017 -0.192 . intron_variant MODIFIER RGS7 HGNC 10003 ENST00000440928 8/11 1 NA GTG T,C 8.237e-06 1:240803017 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001298506 intron_variant 0.599768 0.29161 0.09568 0.084569 0.760004791726228 0.122346 0.781745872893189 FALSE 4.07471e-06 ENSE00001298506_BRK ENSE00001298506 BRK 1 240966169 240966338 - 35 90 45 A,G; T,T NA NA NA CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTTTGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGCCACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT 240802868 240803038 NA NA NA NA NA NA CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTTTGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGCCACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT CCCAAGAAATCATAAAGAAGCACCTCAACCATTATTTCTTTTTAGGAGCACATTTACAAACTGATGAAAAGTGATTCATACCCACGTTTTATAAGATCCAGTGCCTATCAGGAGCTTCTACAGGCAAAGAAAAAGGTACTGGTTTTTTGTGAGTTGTTTTTTCTTGGCCT control 409 364 0 0.00178741386422877 0.000893706932114387 964 661 0 0.0404193807145964 0.0202096903572982 0.847643940156531 0.815391067936879 0.778128031699639 0.785812930617646 -0.847643940156531 -0.813603654072651 -0.778128031699639 -0.74539354990305 0.831517504046705 0.781970481158643 -0.830623797114591 -0.761760790801345 0.068863006313246 TRUE TRUE NA NA NA NA NA RGS7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS7 NA NA NA ENSG00000182901 ENSE00001298506 NA NA NA NA NA NA NA 0.781745872893189 FALSE NA ENSE00001300322_000 ENSE00001300322 000 X 91456324 91456493 + 50 81 39 NA NA NA NA NA TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 NA NA NA NA NA NA TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT natural 17 24 0.962277751724678 0.988538051687007 0.975407901705843 2398 1915 0.990485644973561 0.995887520962273 0.993186582967917 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 0 0 0 0 0.975407901705843 0.993186582967917 0 0 0 FALSE FALSE NA NA NA NA NA PCDH11X NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCDH11X NA NA NA ENSG00000102290 ENSE00001300322 NA NA NA NA NA NA NA 0.925742124901504 TRUE NA ENSE00001300322_001 ENSE00001300322 001 X 91456324 91456493 + 50 81 39 A G 91456335 789 12 TTACTTTTAACGAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201335 92201336 92201336 upstr_intron -39 -0.76 TTACTTTTAACGAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 226 405 1 1 1 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00951435502643949 0.0041124790377266 0.975407901705843 0.993186582967917 NA 0.00681341703208305 NA FALSE NA 0 -0.164 . intron_variant MODIFIER PCDH11X HGNC 8656 ENST00000406881 2/5 1 NA CAA A,G 8.24e-06 X:92201336 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 intron_variant 0.253111 0.12267 0.03278 0 0.708112658866236 0.0443366 0.925742124901504 TRUE NA ENSE00001300322_002 ENSE00001300322 002 X 91456324 91456493 + 50 81 39 T A 91456354 790 31 TTACTTTTAACAAACAGCTTAAAATACTTCAATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201354 92201355 92201355 upstr_intron -20 -0.38 TTACTTTTAACAAACAGCTTAAAATACTTCAATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 442 194 1 1 1 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00951435502643949 0.0041124790377266 0.975407901705843 0.993186582967917 NA 0.00681341703208305 NA FALSE NA 0.006 2.378 . intron_variant MODIFIER PCDH11X HGNC 8656 ENST00000406881 2/5 1 NA CTA T,A 8.238e-06 X:92201355 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 intron_variant -0.14775 0.09128 0.03449 0 0.51699494200029 0.0764235 0.925742124901504 TRUE 6.12542e-06 ENSE00001300322_003 ENSE00001300322 003 X 91456324 91456493 + 50 81 39 C T 91456368 791 45 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTTTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201368 92201369 92201369 upstr_intron -6 -0.1 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTTTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 647 555 0.985485181635958 1 0.992742590817979 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA -0.00500046333760262 0.0041124790377266 0.975407901705843 0.993186582967917 NA -0.000443992149938011 NA FALSE NA 0.012 -0.221 . splice_region_variant&intron_variant LOW PCDH11X HGNC 8656 ENST00000406881 2/5 rs371805367 1 NA T:0 T:0.0001 TCT C,T 3.295e-05 X:92201369 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 splice_region_variant 0.150681 0.10132 0.00884 0 0.548370972165663 0.0833694 0.925742124901504 TRUE 1.80678e-05 ENSE00001300322_004 ENSE00001300322 004 X 91456324 91456493 + 50 81 39 A G 91456380 792 57 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGGAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201380 92201381 92201381 exon 7 0.0864197530864197 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGGAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 129 2640 0.983607972712771 0.999275954551817 0.991441963632294 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA -0.00687767226078917 0.00338843358954322 0.975407901705843 0.993186582967917 NA -0.00174461933562298 NA FALSE NA 1 3.851 . missense_variant MODERATE PCDH11X HGNC 8656 ENST00000406881 3/6 rs201498284 1 tolerated(0.24) benign(0.117) NA GAA A,G 4.118e-05 X:92201381 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 missense_variant 0.605956 0.94212 0.82055 0 0.963290934675126 0 0.925742124901504 TRUE 4.75347e-05 ENSE00001300322_007 ENSE00001300322 007 X 91456324 91456493 + 50 81 39 G A 91456393 795 70 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCAATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201393 92201394 92201394 exon 20 0.246913580246914 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCAATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 1273 1430 1 0.999889388305579 0.99994469415279 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00951435502643949 0.0040018673433061 0.975407901705843 0.993186582967917 NA 0.00675811118487279 NA FALSE NA 0 0.145 rs4252205 missense_variant MODERATE PCDH11X HGNC 8656 ENST00000406881 3/6 rs4252205 1 tolerated(0.53) benign(0.004) A:0 A:0.0014 NA A:0 A:0.008 A:0 A:0.0003 A:0.0107 CGA G,A 0.0071 X:92201394 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 missense_variant 1.390942 0.15619 0.02236 0 0.770220732470986 0 0.925742124901504 TRUE 0.00757798 ENSE00001300322_008 ENSE00001300322 008 X 91456324 91456493 + 50 81 39 C T 91456400 796 77 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGTACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201400 92201401 92201401 exon 27 0.333333333333333 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGTACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 183 259 1 0.999852927490894 0.999926463745447 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00951435502643949 0.00396540652862032 0.975407901705843 0.993186582967917 NA 0.00673988077752991 NA FALSE NA 0.002 -0.143 rs139061770 synonymous_variant LOW PCDH11X HGNC 8656 ENST00000406881 3/6 rs139061770 1 NA T:0 T:0.0009 GCA C,T 0.0003624 X:92201401 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 synonymous_variant -0.06423 0.11075 0.01451 0 0.24707973589055 0 0.925742124901504 TRUE 0.000453908 ENSE00001300322_009 ENSE00001300322 009 X 91456324 91456493 + 50 81 39 A G 91456422 797 99 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAGCTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201422 92201423 92201423 exon -33 0.604938271604938 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAGCTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 256 927 1 0.866431684782629 0.933215842391314 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00951435502643949 -0.129455836179645 0.975407901705843 0.993186582967917 NA -0.0599707405766025 NA FALSE NA 0.895 0.399 . missense_variant MODERATE PCDH11X HGNC 8656 ENST00000406881 3/6 1 tolerated(0.3) benign(0.001) NA AAC A,G 8.237e-06 X:92201423 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 missense_variant 0.701787 0.97243 0.48493 0 0.912042158688419 0 0.925742124901504 TRUE NA ENSE00001300322_010 ENSE00001300322 010 X 91456324 91456493 + 50 81 39 G A 91456430 798 107 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAAATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201430 92201431 92201431 exon -25 0.703703703703704 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAAATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 385 1257 0.993569201009578 0.992151044674634 0.992860122842106 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00308355603601784 -0.00373647628763896 0.975407901705843 0.993186582967917 NA -0.000326460125810557 NA FALSE NA 0.956 -0.094 rs143087998 synonymous_variant LOW PCDH11X HGNC 8656 ENST00000406881 3/6 rs143087998&COSM3143589&COSM3143590 1 NA A:0 A:0.0001 AGA G,A 8.237e-06 X:92201431 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 synonymous_variant 0.137583 0.18194 0.15805 0 0.405803593244793 0 0.925742124901504 TRUE NA ENSE00001300322_011 ENSE00001300322 011 X 91456324 91456493 + 50 81 39 A G 91456431 799 108 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGGTCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201431 92201432 92201432 exon -24 0.716049382716049 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGGTCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 308 849 0.99756981091311 0.937998208872883 0.967784009892997 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00708416593954952 -0.0578893120893902 0.975407901705843 0.993186582967917 NA -0.0254025730749203 NA FALSE NA 0.959 0.488 . missense_variant MODERATE PCDH11X HGNC 8656 ENST00000406881 3/6 1 tolerated(0.59) benign(0.002) NA GAT A,G 4.119e-05 X:92201432 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 missense_variant -2.692196 0.21436 0.17209 0 0.261770624015282 0 0.925742124901504 TRUE 2.95545e-05 ENSE00001300322_012 ENSE00001300322 012 X 91456324 91456493 + 50 81 39 T A 91456432 800 109 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGAACTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201432 92201433 92201433 exon -23 0.728395061728395 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGAACTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 273 377 1 0.993445472898948 0.996722736449474 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00951435502643949 -0.00244204806332526 0.975407901705843 0.993186582967917 NA 0.00353615348155711 NA FALSE NA 0.966 0.459 rs192753553 missense_variant MODERATE PCDH11X HGNC 8656 ENST00000406881 3/6 rs192753553 1 deleterious(0.02) benign(0.068) A:0 A:0 NA A:0 A:0.001 A:0 A:0.0003 A:0 ATC T,A 5.766e-05 X:92201433 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 missense_variant 2.920127 0.6973 0.41477 0 0.955475711564538 0 0.925742124901504 TRUE 5.9051e-05 ENSE00001300322_013 ENSE00001300322 013 X 91456324 91456493 + 50 81 39 A G 91456441 801 118 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCGTCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201441 92201442 92201442 exon -14 0.839506172839506 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCGTCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 405 1286 0.987029806184606 0.999970401462519 0.993500103823562 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA -0.00345583878895461 0.00408288050024519 0.975407901705843 0.993186582967917 NA 0.000313520855645288 NA FALSE NA 1 2.015 . missense_variant MODERATE PCDH11X HGNC 8656 ENST00000406881 3/6 1 tolerated(0.36) benign(0.004) NA CAT A,G 7.414e-05 X:92201442 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 missense_variant 0.353815 0.96082 0.68523 0 0.913601209920735 0 0.925742124901504 TRUE 8.39293e-05 ENSE00001300322_014 ENSE00001300322 014 X 91456324 91456493 + 50 81 39 T G 91456458 802 135 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTAGGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201458 92201459 92201459 downstr_intron 4 1.10526315789474 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTAGGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 248 96 0.965615396178997 1 0.982807698089498 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA -0.0248702487945636 0.0041124790377266 0.975407901705843 0.993186582967917 NA -0.0103788848784185 NA FALSE NA 0.981 0.246 rs4252206 splice_region_variant&intron_variant LOW PCDH11X HGNC 8656 ENST00000406881 3/5 rs4252206&COSM150801 1 G:0.1278 G:0.0245 NA G:0.1389 G:0.0149 G:0.091 G:0.158 G:0.0275 ATG T,G 0.062 X:92201459 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 splice_region_variant 0.412624 0.5019 0.11858 0 0.667721676728797 0.26842 0.925742124901504 TRUE 0.0564532 ENSE00001300322_016 ENSE00001300322 016 X 91456324 91456493 + 50 81 39 C A 91456467 804 144 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGACCTATGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201467 92201468 92201468 downstr_intron 13 1.34210526315789 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGACCTATGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 665 293 0.994890969619589 0.921509235579743 0.958200102599666 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA 0.00440532464602861 -0.0743782853825306 0.975407901705843 0.993186582967917 NA -0.034986480368251 NA FALSE NA 0 -0.692 rs4252207 intron_variant MODIFIER PCDH11X HGNC 8656 ENST00000406881 3/5 rs4252207 1 A:0.0136 A:0.2622 NA A:0.1329 A:0.1581 A:0.0982 A:0.0352 A:0.1905 GCC C,A 0.195 X:92201468 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 intron_variant -0.026536 0.0629 0.00058 0 0.386655253952898 0.081608 0.925742124901504 TRUE 0.217143 ENSE00001300322_017 ENSE00001300322 017 X 91456324 91456493 + 50 81 39 T C 91456472 805 149 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTACGATTTTTCCTCCCCCTTCCTT 92201324 92201494 92201472 92201473 92201473 downstr_intron 18 1.47368421052632 TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTACGATTTTTCCTCCCCCTTCCTT TTACTTTTAACAAACAGCTTAAAATACTTCTATTTTCTTCCCTTCTAAAGCCAATGAAGGAGGTTGTGCGATCTTGCACCCCCATGAAAGAGTCTACAACTATGGAGATCTGGATTCATCCCCAACCACAGGTATGGCAAAAGCCCTATGATTTTTCCTCCCCCTTCCTT mutant NA NA NA NA NA 121 598 0.983247262354567 0.993138569926201 0.988192916140384 0.962277751724678 0.988538051687007 0.990485644973561 0.995887520962273 NA NA -0.00723838261899334 -0.00274895103607242 0.975407901705843 0.993186582967917 NA -0.00499366682753288 NA FALSE NA 0.001 0.439 . intron_variant MODIFIER PCDH11X HGNC 8656 ENST00000406881 3/5 1 NA ATG T,C 2.471e-05 X:92201473 PCDH11X HGNC Symbol protein_coding 843969 ENSG00000102290 ENSE00001300322 intron_variant -0.167803 0.11774 0.01857 0 0.427929695361239 0.0455939 0.925742124901504 TRUE NA ENSE00001300583_000 ENSE00001300583 000 22 31846231 31846400 - 44 72 54 NA NA NA NA NA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 NA NA NA NA NA NA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA natural 233 468 0.842910174350584 0.768764402635262 0.805837288492923 5676 3088 0.845492066245446 0.846553097262265 0.846022581753856 0.842910174350584 0.768764402635262 0.845492066245446 0.846553097262265 0 0 0 0 0.805837288492923 0.846022581753856 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001300583 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001300583_015 ENSE00001300583 015 22 31846231 31846400 - 44 72 54 G C 31846341 551 60 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAAGCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450354 31450355 31450355 exon 6 0.0833333333333333 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAAGCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 147 224 0.8082458810691 0.869131756022389 0.838688818545744 0.842910174350584 0.768764402635262 0.845492066245446 0.846553097262265 NA NA -0.0372461851763459 0.0225786587601233 0.805837288492923 0.846022581753856 NA -0.0073337632081113 NA FALSE NA 0.998 0.305 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00001300583 missense_variant 1.564238 0.93851 0.766 0.732398 0.989918308174044 0 NA NA 8.1324e-06 ENSE00001300583_016 ENSE00001300583 016 22 31846231 31846400 - 44 72 54 G A 31846341 552 60 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAATCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450354 31450355 31450355 exon 6 0.0833333333333333 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAATCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 45 98 0.824779329050859 0.8 0.812389664525429 0.842910174350584 0.768764402635262 0.845492066245446 0.846553097262265 NA NA -0.0207127371945867 -0.0465530972622654 0.805837288492923 0.846022581753856 NA -0.033632917228426 NA FALSE NA 0.998 0.305 NA NA NA EIF4ENIF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF4ENIF1 NA NA NA ENSG00000184708 ENSE00001300583 synonymous_variant 1.103086 0.93141 0.51147 0.732398 0.63479194772869 0 0.999689053765957 TRUE 2.0331e-05 ENSE00001300583_BRK ENSE00001300583 BRK 22 31846231 31846400 - 44 72 54 A,G; T,T NA NA NA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTTTCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGCCACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 NA NA NA NA NA NA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTTTCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGCCACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA control NA NA NA NA NA 612 616 0 0.0930961756734875 0.0465480878367438 0.842910174350584 0.768764402635262 0.845492066245446 0.846553097262265 NA NA -0.845492066245446 -0.753456921588778 0.805837288492923 0.846022581753856 NA -0.799474493917112 NA TRUE NA NA NA NA NA NA EIF4ENIF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF4ENIF1 NA NA NA ENSG00000184708 ENSE00001300583 NA NA NA NA NA NA NA 0.999689053765957 TRUE NA ENSE00001301434_000 ENSE00001301434 000 10 25755524 25755693 + 56 69 45 NA NA NA NA NA ATTCTCCAGGCTTAGAAATGTAAGTTAGTAATGACGTTTTTATTTTGTTTTTTCAGAGCATCCGGGCATCGGGCCTTATCCTGTTGGAAACGATCCTTTTTGGATCTCTGCTCCTATACTTTCCAGTAAGTAACAGAATTTTGTTTTTAAAGTAGAAATTTATTTTATGT 25466594 25466764 NA NA NA NA NA NA ATTCTCCAGGCTTAGAAATGTAAGTTAGTAATGACGTTTTTATTTTGTTTTTTCAGAGCATCCGGGCATCGGGCCTTATCCTGTTGGAAACGATCCTTTTTGGATCTCTGCTCCTATACTTTCCAGTAAGTAACAGAATTTTGTTTTTAAAGTAGAAATTTATTTTATGT ATTCTCCAGGCTTAGAAATGTAAGTTAGTAATGACGTTTTTATTTTGTTTTTTCAGAGCATCCGGGCATCGGGCCTTATCCTGTTGGAAACGATCCTTTTTGGATCTCTGCTCCTATACTTTCCAGTAAGTAACAGAATTTTGTTTTTAAAGTAGAAATTTATTTTATGT natural NA NA NA NA NA 1878 377 0.998747676203793 0.992826606743095 0.995787141473444 NA NA 0.998747676203793 0.992826606743095 NA NA 0 0 NA 0.995787141473444 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003496521 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001301553_000 ENSE00001301553 000 18 47016794 47016963 - 30 99 41 NA NA NA NA NA AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 NA NA NA NA NA NA TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT natural 29 104 0.989333841168315 0.949953075018439 0.969643458093377 3103 1541 0.974890324047841 0.988769763275045 0.981830043661443 0.989333841168315 0.949953075018439 0.974890324047841 0.988769763275045 0 0 0 0 0.969643458093377 0.981830043661443 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003697406 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001301553_008 ENSE00001301553 008 18 47016794 47016963 - 30 99 41 G T 47016862 590 102 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTTCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490491 49490492 49490492 exon -39 0.616161616161616 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGAACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 435 572 1 0.999102641557465 0.999551320778732 0.989333841168315 0.949953075018439 0.974890324047841 0.988769763275045 NA NA 0.0251096759521592 0.01033287828242 0.969643458093377 0.981830043661443 NA 0.0177212771172896 NA FALSE NA 1 9.553 NA NA NA RPL17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPL17 NA NA NA ENSG00000265681 ENSE00003697406 missense_variant 4.119553 0.98047 0.9788 0.627647 0.97794793292086 0 0.494059426420399 FALSE 4.06587e-06 ENSE00001301553_BRK ENSE00001301553 BRK 18 47016794 47016963 - 30 99 41 A,G; T,T NA NA NA AGTTGCACAGGATGTTAGTGGTTTGGGTGGCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCAAGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 NA NA NA NA NA NA TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCTTGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGCCACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT control NA NA NA NA NA 248 1522 0 0 0 0.989333841168315 0.949953075018439 0.974890324047841 0.988769763275045 NA NA -0.974890324047841 -0.988769763275045 0.969643458093377 0.981830043661443 NA -0.981830043661443 NA TRUE NA NA NA NA NA NA RPL17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPL17 NA NA NA ENSG00000265681 ENSE00003697406 NA NA NA NA NA NA NA 0.494059426420399 FALSE NA ENSE00001301987_000 ENSE00001301987 000 17 79871924 79872093 - 39 81 50 NA NA NA NA NA ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 NA NA NA NA NA NA ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT natural 99 44 0.85 0.85 0.85 1799 2078 0.99560224083493 0.994093155226221 0.994847698030576 0.85 0.85 0.99560224083493 0.994093155226221 0 0 0 0 0.85 0.994847698030576 0 0 0 FALSE FALSE NA NA NA NA NA PCYT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SIRT7 NA NA NA ENSG00000187531 ENSE00003786718 NA NA NA NA NA NA NA 0.567108371695204 FALSE NA ENSE00001301987_001 ENSE00001301987 001 17 79871924 79872093 - 39 81 50 C T 79871939 3596 155 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACATCCTTAGATCTGGGT 81914047 81914217 81914062 81914063 81914063 downstr_intron 24 1.63157894736842 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACATCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 24 867 1 0.993797942580439 0.99689897129022 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.00439775916506968 -0.000295212645782139 0.85 0.994847698030576 NA 0.00205127325964377 NA FALSE NA 0 -2.765 rs188937186 upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 rs188937186 1 T:0.0016 T:0.0008 T:0.0014 NA T:0 T:0.005 T:0.001 T:0.0009 T:0.0071 ACG C,T 0.004506 17:81914063 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 non_coding_transcript_exon_variant -0.635443 0.13949 0.08284 0.283894 0.594783090993829 0.16137 0.567108371695204 FALSE 0.00475958 ENSE00001301987_002 ENSE00001301987 002 17 79871924 79872093 - 39 81 50 G A 79871940 3597 154 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCATGTCCTTAGATCTGGGT 81914047 81914217 81914063 81914064 81914064 downstr_intron 23 1.60526315789474 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCATGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 59 226 0.951025898395108 0.938320967504414 0.944673432949761 0.85 0.85 0.99560224083493 0.994093155226221 NA NA -0.0445763424398222 -0.0557721877218073 0.85 0.994847698030576 NA -0.0501742650808147 NA FALSE NA 0 -0.917 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 rs376317318 1 NA A:0 A:0.0001 CGT G,A 4.119e-05 17:81914064 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 non_coding_transcript_exon_variant -0.511528 0.14768 0.04285 0.283894 0.531699994118292 0.16137 0.567108371695204 FALSE 3.66312e-05 ENSE00001301987_004 ENSE00001301987 004 17 79871924 79872093 - 39 81 50 G A 79871956 3599 138 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTTGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914079 81914080 81914080 downstr_intron 7 1.18421052631579 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTTGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 85 162 1 0.999764735518444 0.999882367759222 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.00439775916506968 0.00567158029222314 0.85 0.994847698030576 NA 0.00503466972864641 NA FALSE NA 0 -3.764 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 1 NA CGA G,A 8.238e-06 17:81914080 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 splice_region_variant -0.565972 0.16612 0.03834 0.283894 0.857748996089391 0.148564 0.567108371695204 FALSE 8.13451e-06 ENSE00001301987_005 ENSE00001301987 005 17 79871924 79872093 - 39 81 50 G C 79871958 3600 136 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAAGTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914081 81914082 81914082 downstr_intron 5 1.13157894736842 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAAGTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 30 56 1 1 1 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.00439775916506968 0.00590684477377879 0.85 0.994847698030576 NA 0.00515230196942423 NA FALSE NA 0.024 0.047 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 1 NA AGT G,C 8.238e-06 17:81914082 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 splice_region_variant -0.31166 0.2174 0.16393 0.283894 0.674401751499656 0.148632 0.567108371695204 FALSE NA ENSE00001301987_010 ENSE00001301987 010 17 79871924 79872093 - 39 81 50 C T 79871987 3605 107 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCAAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914110 81914111 81914111 exon -25 0.703703703703704 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCAAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant 35 73 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.85 0.99560224083493 0.994093155226221 0 0 NA NA 0.85 0.994847698030576 0 NA NA NA FALSE 0.881 0.155 rs193212813 upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 rs193212813 1 T:0.0010 T:0 T:0 NA T:0.005 T:0 T:0 TCG C,T 0.0001812 17:81914111 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 synonymous_variant 1.250173 0.85801 0.62617 0.706548 0.8982105125437 0 0.567108371695204 FALSE 0.000138224 ENSE00001301987_011 ENSE00001301987 011 17 79871924 79872093 - 39 81 50 C T 79871991 3606 103 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCAGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914114 81914115 81914115 exon -29 0.654320987654321 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCAGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 337 186 1 0.989533757627143 0.994766878813571 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.00439775916506968 -0.00455939759907842 0.85 0.994847698030576 NA -8.08192170043687e-05 NA FALSE NA 1 7.212 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 rs374358109&COSM1265642 1 NA T:0 T:0.0001 CCG C,T 8.238e-06 17:81914115 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 missense_variant 7.052131 0.96999 0.98559 0.706548 0.999530475629836 0 0.567108371695204 FALSE 4.06524e-06 ENSE00001301987_015 ENSE00001301987 015 17 79871924 79872093 - 39 81 50 G C 79872000 3610 94 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCGTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914123 81914124 81914124 exon -38 0.54320987654321 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCGTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 523 438 0.9868921828793 0.977036083618657 0.981964133248978 0.85 0.85 0.99560224083493 0.994093155226221 NA NA -0.00871005795563073 -0.0170570716075639 0.85 0.994847698030576 NA -0.0128835647815973 NA FALSE NA 1 4.816 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:81914124 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 missense_variant 1.045153 0.93159 0.94907 0.706548 0.845352234064253 0 0.567108371695204 FALSE 0.000109766 ENSE00001301987_016 ENSE00001301987 016 17 79871924 79872093 - 39 81 50 G A 79872000 3611 94 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCTTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914123 81914124 81914124 exon -38 0.54320987654321 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCTTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 63 409 0.988338378029317 0.950782350028035 0.969560364028676 0.85 0.85 0.99560224083493 0.994093155226221 NA NA -0.00726386280561298 -0.0433108051981859 0.85 0.994847698030576 NA -0.0252873340018994 NA FALSE NA 1 4.816 NA NA NA PCYT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SIRT7 NA NA NA ENSG00000187531 ENSE00003786718 missense_variant 2.217687 0.93081 0.95185 0.706548 0.949210230213456 0 0.567108371695204 FALSE 4.0654e-06 ENSE00001301987_019 ENSE00001301987 019 17 79871924 79872093 - 39 81 50 G A 79872020 3614 74 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTTTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914143 81914144 81914144 exon 24 0.296296296296296 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTTTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 610 140 0.982958371256003 0.989587624307693 0.986272997781848 0.85 0.85 0.99560224083493 0.994093155226221 NA NA -0.0126438695789273 -0.00450553091852834 0.85 0.994847698030576 NA -0.00857470024872781 NA FALSE NA 1 0.546 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 1 NA AGA G,A 1.648e-05 17:81914144 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 synonymous_variant 1.057856 0.96202 0.91603 0.706548 0.876810565642614 0 0.567108371695204 FALSE 8.13167e-06 ENSE00001301987_020 ENSE00001301987 020 17 79871924 79872093 - 39 81 50 G A 79872023 3615 71 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGTCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914146 81914147 81914147 exon 21 0.259259259259259 ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGTCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant 69 162 0.85 0.85 0.85 17 20 1 1 1 0.85 0.85 0.99560224083493 0.994093155226221 1.11022302462516e-16 0 0.00439775916506968 0.00590684477377879 0.85 0.994847698030576 5.55111512312578e-17 0.00515230196942423 0.00515230196942418 FALSE FALSE 0 -0.844 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 1 NA GGC G,A 1.648e-05 17:81914147 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 synonymous_variant 0.953272 0.75981 0.14031 0.706548 0.898675488482932 0 0.567108371695204 FALSE 4.47238e-05 ENSE00001301987_027 ENSE00001301987 027 17 79871924 79872093 - 39 81 50 C T 79872067 3622 27 ACAGACTTGTCCCTTGTGTGTGTGCGATGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914190 81914191 81914191 upstr_intron -24 -0.46 ACAGACTTGTCCCTTGTGTGTGTGCGATGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 293 115 0.998302239870213 1 0.999151119935107 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.00269999903528284 0.00590684477377879 0.85 0.994847698030576 NA 0.00430342190453081 NA FALSE NA 0 0.136 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 1 NA ACC C,T 8.237e-06 17:81914191 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 non_coding_transcript_exon_variant 0.170969 0.18292 0.04348 0.295142 0.717888129545186 0.109828 0.567108371695204 FALSE 4.06832e-06 ENSE00001301987_028 ENSE00001301987 028 17 79871924 79872093 - 39 81 50 C T 79872068 3623 26 ACAGACTTGTCCCTTGTGTGTGTGCAGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914191 81914192 81914192 upstr_intron -25 -0.48 ACAGACTTGTCCCTTGTGTGTGTGCAGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 154 14 0.995921274089248 1 0.997960637044624 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.000319033254318146 0.00590684477377879 0.85 0.994847698030576 NA 0.00311293901404847 NA FALSE NA 0 -0.055 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 rs201808699 1 NA CCG C,T 1.647e-05 17:81914192 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 non_coding_transcript_exon_variant -0.040479 0.19997 0.02098 0.295142 0.77712679512355 0.109828 0.567108371695204 FALSE 2.03474e-05 ENSE00001301987_029 ENSE00001301987 029 17 79871924 79872093 - 39 81 50 G A 79872069 3624 25 ACAGACTTGTCCCTTGTGTGTGTGTGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914192 81914193 81914193 upstr_intron -26 -0.5 ACAGACTTGTCCCTTGTGTGTGTGTGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 290 412 1 0.99520857100641 0.997604285503205 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.00439775916506968 0.00111541578018881 0.85 0.994847698030576 NA 0.00275658747262925 NA FALSE NA 0 0.253 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 rs373412532 1 NA A:0 A:0.0001 CGC G,A 3.295e-05 17:81914193 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 non_coding_transcript_exon_variant 0.734168 0.15078 0.01559 0.295142 0.765109072906662 0.165807 0.567108371695204 FALSE 2.84917e-05 ENSE00001301987_030 ENSE00001301987 030 17 79871924 79872093 - 39 81 50 A G 79872071 3625 23 ACAGACTTGTCCCTTGTGTGTGCGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914194 81914195 81914195 upstr_intron -28 -0.54 ACAGACTTGTCCCTTGTGTGTGCGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 522 383 0.999208942226299 0.975328395380167 0.987268668803233 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.00360670139136821 -0.0187647598460542 0.85 0.994847698030576 NA -0.00757902922734299 NA FALSE NA 0 -1.143 rs183437321 upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 rs183437321 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 G:0.0016 G:0 CAC A,G 0.0001812 17:81914195 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 non_coding_transcript_exon_variant 0.723964 0.19264 0.11515 0.295142 0.676940348107137 0.164517 0.567108371695204 FALSE 0.000138326 ENSE00001301987_031 ENSE00001301987 031 17 79871924 79872093 - 39 81 50 C T 79872074 3626 20 ACAGACTTGTCCCTTGTGTATGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT 81914047 81914217 81914197 81914198 81914198 upstr_intron -31 -0.6 ACAGACTTGTCCCTTGTGTATGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT ACAGACTTGTCCCTTGTGTGTGTGCGGTGTCTGTCTGTCTGCTTCCACAGGTTCTAAAGAAGTACCCACGCCTCTGGTGCATGACCAAGCCCCCTAGCCGGCGGCCGAAGCTTTACATCGTGAACCTGCAGGTAACTCGGGTGCTGAGAGCCACGTCCTTAGATCTGGGT mutant NA NA NA NA NA 75 1102 1 0.980154939641314 0.990077469820657 0.85 0.85 0.99560224083493 0.994093155226221 NA NA 0.00439775916506968 -0.0139382155849068 0.85 0.994847698030576 NA -0.00477022820991857 NA FALSE NA 0 -0.363 . upstream_gene_variant MODIFIER PCYT2 HGNC 8756 ENST00000571581 rs200851894 1 T:0.0008 T:0.003 T:0 NA T:0 T:0 T:0 T:0.0068 T:0 ACA C,T 0.0004778 17:81914198 SIRT7 HGNC Symbol protein_coding 9384 ENSG00000187531 ENSE00003786718 non_coding_transcript_exon_variant 0.575564 0.18172 0.19779 0.295142 0.766111513712378 0.0816823 0.567108371695204 FALSE 0.000345897 ENSE00001302379_000 ENSE00001302379 000 12 72416137 72416306 + 42 96 32 NA NA NA NA NA CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAATACCCTTCCCA 72022356 72022526 NA NA NA NA NA NA CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAATACCCTTCCCA CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAATACCCTTCCCA natural NA NA NA NA NA 1436 3120 0.988473854426989 0.904456249354125 0.946465051890557 NA NA 0.988473854426989 0.904456249354125 NA NA 0 0 NA 0.946465051890557 NA 0 NA FALSE NA NA NA NA NA NA TPH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TPH2 NA NA NA ENSG00000139287 ENSE00001302379 NA NA NA NA NA NA NA 0.696911876254858 FALSE NA ENSE00001302379_013 ENSE00001302379 013 12 72416137 72416306 + 42 96 32 C T 72416230 2486 94 CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGTGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAATACCCTTCCCA 72022356 72022526 72022449 72022450 72022450 exon -45 0.541666666666667 CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGTGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAATACCCTTCCCA CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAATACCCTTCCCA mutant 46 60 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.988473854426989 0.904456249354125 NA NA NA NA NA 0.946465051890557 NA NA NA NA NA 1 1.663 . missense_variant MODERATE TPH2 HGNC 20692 ENST00000333850 9/11 COSM1268391 1 deleterious(0) probably_damaging(1) NA GCG C 8.237e-06 12:72022450 TPH2 HGNC Symbol protein_coding 247772 ENSG00000139287 ENSE00001302379 missense_variant 7.701778 0.98793 0.90062 0.487112 0.99927441600817 0 0.696911876254858 FALSE 1.21964e-05 ENSE00001302379_027 ENSE00001302379 027 12 72416137 72416306 + 42 96 32 T C 72416296 2500 160 CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAACACCCTTCCCA 72022356 72022526 72022515 72022516 72022516 downstr_intron 22 1.70967741935484 CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAACACCCTTCCCA CTCATTGACCAGTTCACTGAATATGTGTTCGTTTTTCTTCAGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGAGAATTAAAGGTATGAAGCTGTGAATGAAAATACCCTTCCCA mutant NA NA NA NA NA 76 40 1 1 1 NA NA 0.988473854426989 0.904456249354125 NA NA 0.0115261455730108 0.0955437506458749 NA 0.946465051890557 NA 0.0535349481094429 NA FALSE NA 0.001 -0.194 . intron_variant MODIFIER TPH2 HGNC 20692 ENST00000333850 9/10 1 NA ATA T 8.238e-06 12:72022516 TPH2 HGNC Symbol protein_coding 247772 ENSG00000139287 ENSE00001302379 intron_variant 0.128986 0.97573 0.26617 0.061011 0.568421384009321 0.493425 0.696911876254858 FALSE 4.07488e-06 ENSE00001302508_000 ENSE00001302508 000 1 32133713 32133882 - 53 54 63 NA NA NA NA NA TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 NA NA NA NA NA NA TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG natural 71 43 1 1 1 1912 1468 0.998345937061264 0.984271210591184 0.991308573826224 1 1 0.998345937061264 0.984271210591184 0 0 0 0 1 0.991308573826224 0 0 0 FALSE FALSE NA NA NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00003569556 NA NA NA NA NA NA NA 3.38473511158888e-15 FALSE NA ENSE00001302508_001 ENSE00001302508 001 1 32133713 32133882 - 53 54 63 C T 32133729 1022 154 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAAGTACCAGAGGTTTGGG 31668111 31668281 31668127 31668128 31668128 downstr_intron 37 1.71153846153846 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAAGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 1513 678 0.998145631198665 0.999710415939906 0.998928023569285 1 1 0.998345937061264 0.984271210591184 NA NA -0.000200305862599892 0.0154392053487215 1 0.991308573826224 NA 0.00761944974306078 NA FALSE NA 0.002 -0.109 . intron_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/22 1 NA CCT C,T 8.274e-06 1:31668128 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant 0.185026 0.22444 0.04953 0.053691 0.456659468339277 0.0443366 3.38473511158888e-15 FALSE 8.5648e-06 ENSE00001302508_002 ENSE00001302508 002 1 32133713 32133882 - 53 54 63 C T 32133735 1023 148 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGATGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668133 31668134 31668134 downstr_intron 31 1.59615384615385 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGATGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 464 764 1 0.999378475284534 0.999689237642267 1 1 0.998345937061264 0.984271210591184 NA NA 0.0016540629387356 0.0151072646933496 1 0.991308573826224 NA 0.00838066381604258 NA FALSE NA 0.009 0.301 . intron_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/22 1 NA ACC C,T 1.655e-05 1:31668134 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant 0.477386 0.4114 0.05098 0.053691 0.788999159873088 0.0443366 3.38473511158888e-15 FALSE 8.51375e-06 ENSE00001302508_003 ENSE00001302508 003 1 32133713 32133882 - 53 54 63 C A 32133736 1024 147 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGTGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668134 31668135 31668135 downstr_intron 30 1.57692307692308 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGTGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 426 552 0.998149926616013 0.91858028833575 0.958365107475881 1 1 0.998345937061264 0.984271210591184 NA NA -0.000196010445251305 -0.0656909222554344 1 0.991308573826224 NA -0.0329434663503428 NA FALSE NA 0.009 -0.129 . intron_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/22 1 NA CCC C,A 8.274e-06 1:31668135 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant 0.561695 0.47852 0.05826 0.053691 0.774102865664007 0.0443366 3.38473511158888e-15 FALSE NA ENSE00001302508_004 ENSE00001302508 004 1 32133713 32133882 - 53 54 63 C T 32133737 1025 146 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTAGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668135 31668136 31668136 downstr_intron 29 1.55769230769231 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTAGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 383 1167 0.997721450369847 0.987818930802441 0.992770190586144 1 1 0.998345937061264 0.984271210591184 NA NA -0.000624486691416903 0.00354772021125682 1 0.991308573826224 NA 0.00146161675991996 NA FALSE NA 0.006 -0.514 NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:31668136 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant 0.377717 0.32022 0.02252 0.053691 0.798111032986566 0.0443366 3.38473511158888e-15 FALSE 0.352608 ENSE00001302508_006 ENSE00001302508 006 1 32133713 32133882 - 53 54 63 C T 32133741 1027 142 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGAAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668139 31668140 31668140 downstr_intron 25 1.48076923076923 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGAAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 1286 346 0.999229432216657 0.986981159818211 0.993105296017434 1 1 0.998345937061264 0.984271210591184 NA NA 0.000883495155393099 0.00270994922702705 1 0.991308573826224 NA 0.00179672219121008 NA FALSE NA 0 -0.209 . intron_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/22 rs367716499 1 NA T:0.0008 T:0 TCC C,T 4.965e-05 1:31668140 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant -0.181157 0.12429 0.02018 0.053691 0.388904081011092 0.0443366 3.38473511158888e-15 FALSE 4.18466e-05 ENSE00001302508_008 ENSE00001302508 008 1 32133713 32133882 - 53 54 63 G A 32133752 1029 131 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGATCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668150 31668151 31668151 downstr_intron 14 1.26923076923077 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGATCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 244 215 0.996750675346171 0.997116621915357 0.996933648630764 1 1 0.998345937061264 0.984271210591184 NA NA -0.00159526171509383 0.0128454113241728 1 0.991308573826224 NA 0.0056250748045395 NA FALSE NA 0 -1.787 . intron_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/22 1 NA GGT G,A 8.275e-06 1:31668151 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant -0.339212 0.0893 0.00884 0.080785 0.16429537150761 0.0368695 3.38473511158888e-15 FALSE NA ENSE00001302508_009 ENSE00001302508 009 1 32133713 32133882 - 53 54 63 C T 32133755 1030 128 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGAGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668153 31668154 31668154 downstr_intron 11 1.21153846153846 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGAGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant 44 29 0.85 0.85 0.85 245 251 0.942563564101864 0.910137989124578 0.926350776613221 1 1 0.998345937061264 0.984271210591184 -0.15 -0.15 -0.0557823729594003 -0.0741332214666058 1 0.991308573826224 -0.15 -0.064957797213003 0.085042202786997 FALSE FALSE 0 0.804 . intron_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/22 1 NA CCC C,T 8.275e-06 1:31668154 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant 0.345049 0.25807 0.02918 0.080785 0.560752695304492 0.0431951 3.38473511158888e-15 FALSE 8.23642e-06 ENSE00001302508_010 ENSE00001302508 010 1 32133713 32133882 - 53 54 63 G A 32133776 1031 107 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCTAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668174 31668175 31668175 exon -11 0.814814814814815 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCTAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 30 267 1 0.987883443079025 0.993941721539513 1 1 0.998345937061264 0.984271210591184 NA NA 0.0016540629387356 0.00361223248784126 1 0.991308573826224 NA 0.00263314771328843 NA FALSE NA 0.993 2.383 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/23 rs371196754 1 A:0.0006 A:0 A:0.0043 NA A:0 A:0 A:0 A:0 A:0.0001 TGG G,A 9.103e-05 1:31668175 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 missense_variant 3.233097 0.97968 0.71721 0.615465 0.997147841657129 0 3.38473511158888e-15 FALSE 0.00010624 ENSE00001302508_011 ENSE00001302508 011 1 32133713 32133882 - 53 54 63 G A 32133779 1032 104 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCTCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668177 31668178 31668178 exon -14 0.759259259259259 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCTCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 190 25 1 0.973345945889979 0.986672972944989 1 1 0.998345937061264 0.984271210591184 NA NA 0.0016540629387356 -0.010925264701205 1 0.991308573826224 NA -0.00463560088123471 NA FALSE NA 1 2.412 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/23 1 NA GGG G,A 8.275e-06 1:31668178 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 missense_variant 2.888523 0.96953 0.7361 0.615465 0.995400191677223 0 3.38473511158888e-15 FALSE NA ENSE00001302508_012 ENSE00001302508 012 1 32133713 32133882 - 53 54 63 C T 32133784 1033 99 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACAGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668182 31668183 31668183 exon -19 0.666666666666667 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACAGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 628 486 0.61965640774627 0.798826490020171 0.70924144888322 1 1 0.998345937061264 0.984271210591184 NA NA -0.378689529314995 -0.185444720571013 1 0.991308573826224 NA -0.282067124943004 NA FALSE NA 0.995 3.095 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/23 rs375549047 1 T:0.0004 T:0.0008 T:0 NA T:0 T:0.001 T:0 T:0.0035 T:0 CCG C,T 0.0002234 1:31668183 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 synonymous_variant 2.490232 0.98013 0.82819 0.615465 0.747461980735875 0 3.38473511158888e-15 FALSE 0.000203973 ENSE00001302508_013 ENSE00001302508 013 1 32133713 32133882 - 53 54 63 G A 32133785 1034 98 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCATGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668183 31668184 31668184 exon -20 0.648148148148148 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCATGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 326 695 0.993748311503437 0.876009740792508 0.934879026147973 1 1 0.998345937061264 0.984271210591184 NA NA -0.00459762555782695 -0.108261469798676 1 0.991308573826224 NA -0.0564295476782515 NA FALSE NA 0.991 2.16 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/23 1 NA CGT G,A 1.655e-05 1:31668184 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 missense_variant 2.566289 0.93567 0.04711 0.615465 0.911398572880128 0 3.38473511158888e-15 FALSE NA ENSE00001302508_014 ENSE00001302508 014 1 32133713 32133882 - 53 54 63 G T 32133788 1035 95 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGACACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668186 31668187 31668187 exon -23 0.592592592592593 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGACACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 205 718 0.999799079024719 0.998279097900979 0.999039088462849 1 1 0.998345937061264 0.984271210591184 NA NA 0.00145314196345492 0.0140078873097945 1 0.991308573826224 NA 0.00773051463662472 NA FALSE NA 0.619 4.473 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/23 1 NA GGC G,T 1.655e-05 1:31668187 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 missense_variant 2.664012 0.96076 0.9276 0.615465 0.981068830464903 0 3.38473511158888e-15 FALSE 8.16367e-06 ENSE00001302508_015 ENSE00001302508 015 1 32133713 32133882 - 53 54 63 G T 32133803 1036 80 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACAAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668201 31668202 31668202 exon 17 0.314814814814815 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACAAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 422 52 0.998626664990182 1 0.999313332495091 1 1 0.998345937061264 0.984271210591184 NA NA 0.000280727928917646 0.0157287894088159 1 0.991308573826224 NA 0.0080047586688668 NA FALSE NA 0.991 1.817 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/23 rs573744017 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TGG G,T 8.275e-06 1:31668202 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 missense_variant 2.829555 0.98157 0.87978 0.615465 0.9876535045301 0 3.38473511158888e-15 FALSE 4.07309e-06 ENSE00001302508_017 ENSE00001302508 017 1 32133713 32133882 - 53 54 63 G T 32133813 1038 70 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTACAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668211 31668212 31668212 exon 7 0.12962962962963 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTACAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 541 169 0.997726149290547 0.968254627494588 0.982990388392568 1 1 0.998345937061264 0.984271210591184 NA NA -0.000619787770717029 -0.0160165830965963 1 0.991308573826224 NA -0.00831818543365664 NA FALSE NA 1 1.971 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 3/23 1 NA GGA G,T 8.276e-06 1:31668212 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 missense_variant 1.909334 0.97161 0.87525 0.615465 0.980947826866971 0 3.38473511158888e-15 FALSE 4.06941e-06 ENSE00001302508_018 ENSE00001302508 018 1 32133713 32133882 - 53 54 63 C A 32133819 1039 64 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGTGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668217 31668218 31668218 exon 1 0.0185185185185185 TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGTGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 852 209 0.983624602984806 0.991361711438634 0.98749315721172 1 1 0.998345937061264 0.984271210591184 NA NA -0.0147213340764586 0.00709050084744955 1 0.991308573826224 NA -0.00381541661450452 NA FALSE NA 1 2.284 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW COL16A1 HGNC 2193 ENST00000488128 3/23 1 NA CCC C,A 2.483e-05 1:31668218 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 missense_variant 3.659705 0.98124 0.68834 0.615465 0.992960389754738 0 3.38473511158888e-15 FALSE 1.22119e-05 ENSE00001302508_020 ENSE00001302508 020 1 32133713 32133882 - 53 54 63 C A 32133857 1041 26 TACCCAGCGAGGGGAGAACAGAAATTTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668255 31668256 31668256 upstr_intron -38 -0.587301587301587 TACCCAGCGAGGGGAGAACAGAAATTTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 139 172 1 0.997070740799591 0.998535370399796 1 1 0.998345937061264 0.984271210591184 NA NA 0.0016540629387356 0.0127995302084074 1 0.991308573826224 NA 0.0072267965735715 NA FALSE NA 0 0.007 . intron_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 2/22 rs368837553 1 NA A:0.0008 A:0 ACA C,A 1.655e-05 1:31668256 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant 0.589181 0.20046 0.0933 0.053691 0.786928976201447 0.0448725 3.38473511158888e-15 FALSE 2.44792e-05 ENSE00001302508_021 ENSE00001302508 021 1 32133713 32133882 - 53 54 63 G A 32133864 1042 19 TACCCAGCGAGGGGAGAATAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 31668262 31668263 31668263 upstr_intron -45 -0.698412698412698 TACCCAGCGAGGGGAGAATAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG mutant NA NA NA NA NA 375 269 0.998230771695338 0.998984155992989 0.998607463844164 1 1 0.998345937061264 0.984271210591184 NA NA -0.000115165365926484 0.0147129454018053 1 0.991308573826224 NA 0.00729889001793943 NA FALSE NA 0.006 0.463 rs139492656 intron_variant&non_coding_transcript_variant MODIFIER COL16A1 HGNC 2193 ENST00000488128 2/22 rs139492656 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 TGT G,A 3.31e-05 1:31668263 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003569556 intron_variant 0.474014 0.27989 0.05854 0.053691 0.798066400960526 0.0448725 3.38473511158888e-15 FALSE 1.63375e-05 ENSE00001302508_BRK ENSE00001302508 BRK 1 32133713 32133882 - 53 54 63 A,G; T,T NA NA NA TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCTTGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTCCGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG 31668111 31668281 NA NA NA NA NA NA TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCTTGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTCCGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG TACCCAGCGAGGGGAGAACAGAAATGTTGGGGGGCTATCCATCATGTCTGCCTTTCTTTGCAGGGTCCTCCAGGGCAACCAGGTTACCCAGGTGCCACGGGCCCCCCAGGACTGCCTGTGAGTAAGGGGACCCTTGCTGGGGAGTGGGTGCCAGGTACCAGAGGTTTGGG control 30 136 0 0 0 248 193 0 0.0669623857601948 0.0334811928800974 1 1 0.998345937061264 0.984271210591184 -1 -1 -0.998345937061264 -0.917308824830989 1 0.991308573826224 -1 -0.957827380946127 0.0421726190538732 TRUE TRUE NA NA NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00003569556 NA NA NA NA NA NA NA 3.38473511158888e-15 FALSE NA ENSE00001303224_000 ENSE00001303224 000 12 64668639 64668808 - 42 75 53 NA NA NA NA NA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA 64274858 64275028 NA NA NA NA NA NA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA natural NA NA NA NA NA 1521 1365 0.991122705322178 0.885094249027157 0.938108477174667 NA NA 0.991122705322178 0.885094249027157 NA NA 0 0 NA 0.938108477174667 NA 0 NA FALSE NA NA NA NA NA NA C12orf56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C12orf56 NA NA NA ENSG00000185306 ENSE00003556518 NA NA NA NA NA NA NA 2.90933463847163e-11 FALSE NA ENSE00001303880_000 ENSE00001303880 000 17 78290943 78291112 + 45 90 35 NA NA NA NA NA CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 NA NA NA NA NA NA CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT natural NA NA NA NA NA 190 3783 1 0.964348753765759 0.982174376882879 NA NA 1 0.964348753765759 NA NA 0 0 NA 0.982174376882879 NA 0 NA FALSE NA NA NA NA NA NA RNF213 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF213 NA NA NA ENSG00000173821 ENSE00003481809 NA NA NA NA NA NA NA 1.67778352788526e-29 FALSE NA ENSE00001303880_001 ENSE00001303880 001 17 78290943 78291112 + 45 90 35 C T 78290968 3244 26 CATTTAGTCGTGAGAGTGGGTGTGATCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317167 80317168 80317168 upstr_intron -20 -0.422222222222222 CATTTAGTCGTGAGAGTGGGTGTGATCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant 78 72 0.85 0.804285361138948 0.827142680569474 450 203 1 0.993563518709532 0.996781759354766 NA NA 1 0.964348753765759 NA NA 0 0.0292147649437736 NA 0.982174376882879 NA 0.0146073824718868 NA FALSE NA 0.006 2.31 . intron_variant MODIFIER RNF213 HGNC 14539 ENST00000582970 15/67 1 NA ACC C,T 0.000192 17:80317168 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 intron_variant 0.620933 0.17064 0.11733 0.256867 0.866267696213874 0.0570046 1.67778352788526e-29 FALSE 0.000140232 ENSE00001303880_003 ENSE00001303880 003 17 78290943 78291112 + 45 90 35 G A 78290984 3246 42 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTACAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317183 80317184 80317184 upstr_intron -4 -0.0666666666666667 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTACAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 26 15 1 1 1 NA NA 1 0.964348753765759 NA NA 0 0.0356512462342412 NA 0.982174376882879 NA 0.0178256231171206 NA FALSE NA 1 1.168 . splice_region_variant&intron_variant LOW RNF213 HGNC 14539 ENST00000582970 15/67 1 NA TGC G,A 8.345e-06 17:80317184 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 splice_region_variant 1.677989 0.95567 0.54074 0.256867 0.856452274776962 0.407874 1.67778352788526e-29 FALSE NA ENSE00001303880_004 ENSE00001303880 004 17 78290943 78291112 + 45 90 35 C T 78290997 3247 55 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGTGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317196 80317197 80317197 exon 10 0.111111111111111 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGTGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 29 46 1 1 1 NA NA 1 0.964348753765759 NA NA 0 0.0356512462342412 NA 0.982174376882879 NA 0.0178256231171206 NA FALSE NA 0.757 0.593 rs146522582 missense_variant MODERATE RNF213 HGNC 14539 ENST00000582970 16/68 rs146522582 1 probably_damaging(0.991) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 GCG C,T 4.171e-05 17:80317197 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 missense_variant 7.829048 0.96881 0.43064 0.706298 0.98799696858175 0 1.67778352788526e-29 FALSE 3.3256e-05 ENSE00001303880_005 ENSE00001303880 005 17 78290943 78291112 + 45 90 35 G T 78290998 3248 56 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCTGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317197 80317198 80317198 exon 11 0.122222222222222 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCTGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 318 781 0.979116173691516 0.964265141665881 0.971690657678698 NA NA 1 0.964348753765759 NA NA -0.0208838263084843 -8.36120998779499e-05 NA 0.982174376882879 NA -0.0104837192041811 NA FALSE NA 0.887 0.553 rs139654482 missense_variant MODERATE RNF213 HGNC 14539 ENST00000582970 16/68 rs139654482 1 possibly_damaging(0.889) NA T:0.0002 T:0.0003 CGG G,T 0.0001168 17:80317198 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 missense_variant 5.279461 0.94892 0.62027 0.706298 0.94951929655056 0 1.67778352788526e-29 FALSE 9.13553e-05 ENSE00001303880_006 ENSE00001303880 006 17 78290943 78291112 + 45 90 35 A C 78291009 3249 67 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAACTCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317208 80317209 80317209 exon 22 0.244444444444444 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAACTCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant 10 17 0.950920079188736 0.969734032653198 0.960327055920967 182 387 1 0.999591118517777 0.999795559258888 NA NA 1 0.964348753765759 NA NA 0 0.0352423647520179 NA 0.982174376882879 NA 0.017621182376009 NA FALSE NA 0.437 1.637 . missense_variant MODERATE RNF213 HGNC 14539 ENST00000582970 16/68 1 benign(0.215) NA AAT A,C 8.342e-06 17:80317209 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 missense_variant 0.757214 0.31486 0.17274 0.706298 0.882405975148109 0 1.67778352788526e-29 FALSE 4.14051e-06 ENSE00001303880_007 ENSE00001303880 007 17 78290943 78291112 + 45 90 35 A G 78291014 3250 72 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAGTTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317213 80317214 80317214 exon 27 0.3 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAGTTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 1019 101 0.96519670791711 1 0.982598353958555 NA NA 1 0.964348753765759 NA NA -0.0348032920828898 0.0356512462342412 NA 0.982174376882879 NA 0.000423977075675708 NA FALSE NA 0.11 0.06 rs72849865 synonymous_variant LOW RNF213 HGNC 14539 ENST00000582970 16/68 rs72849865 1 G:0.0020 G:0.0008 G:0.0014 NA G:0 G:0.007 G:0.001 G:0.0016 G:0.0058 AAT A,G 0.004596 17:80317214 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 synonymous_variant -0.719979 0.32428 0.02874 0.706298 0.654696151858812 0 1.67778352788526e-29 FALSE 0.00454809 ENSE00001303880_009 ENSE00001303880 009 17 78290943 78291112 + 45 90 35 C T 78291017 3252 75 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTTCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317216 80317217 80317217 exon 30 0.333333333333333 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTTCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 560 721 1 0.998454439468583 0.999227219734292 NA NA 1 0.964348753765759 NA NA 0 0.0341056857028241 NA 0.982174376882879 NA 0.0170528428514121 NA FALSE NA 0.997 0.664 rs147309852 synonymous_variant LOW RNF213 HGNC 14539 ENST00000582970 16/68 rs147309852 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 TCC C,T 2.503e-05 17:80317217 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 synonymous_variant 0.790694 0.19148 0.14223 0.706298 0.844854146012625 0 1.67778352788526e-29 FALSE 2.0687e-05 ENSE00001303880_011 ENSE00001303880 011 17 78290943 78291112 + 45 90 35 G A 78291021 3254 79 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCACGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317220 80317221 80317221 exon 34 0.377777777777778 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCACGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 15 91 1 0.99255844794004 0.99627922397002 NA NA 1 0.964348753765759 NA NA 0 0.0282096941742815 NA 0.982174376882879 NA 0.0141048470871408 NA FALSE NA 0 -0.147 . missense_variant MODERATE RNF213 HGNC 14539 ENST00000582970 16/68 rs377487562 1 benign(0.016) NA A:0 A:0.0001 CGC G,A 8.341e-06 17:80317221 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 missense_variant -0.543566 0.14163 0.02579 0.706298 0.80731546411949 0 1.67778352788526e-29 FALSE 3.72085e-05 ENSE00001303880_015 ENSE00001303880 015 17 78290943 78291112 + 45 90 35 A G 78291028 3258 86 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCGTGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317227 80317228 80317228 exon 41 0.455555555555556 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCGTGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 221 281 1 1 1 NA NA 1 0.964348753765759 NA NA 0 0.0356512462342412 NA 0.982174376882879 NA 0.0178256231171206 NA FALSE NA 0 -0.165 . missense_variant MODERATE RNF213 HGNC 14539 ENST00000582970 16/68 COSM1564155&COSM1564156&COSM1564157 1 benign(0.362) NA CAT A,G 8.341e-06 17:80317228 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 missense_variant 0.105269 0.14854 0.01991 0.706298 0.74052582475825 0 1.67778352788526e-29 FALSE 8.26337e-06 ENSE00001303880_017 ENSE00001303880 017 17 78290943 78291112 + 45 90 35 C T 78291043 3260 101 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTTGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317242 80317243 80317243 exon -35 0.622222222222222 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTTGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 378 644 0.990997435952698 0.997167273372308 0.994082354662503 NA NA 1 0.964348753765759 NA NA -0.00900256404730171 0.0328185196065488 NA 0.982174376882879 NA 0.0119079777796235 NA FALSE NA 0.009 1.193 . missense_variant MODERATE RNF213 HGNC 14539 ENST00000582970 16/68 1 benign(0.304) NA TCG C,T 1.668e-05 17:80317243 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 missense_variant 2.714175 0.16902 0.0512 0.706298 0.936503978744865 0 1.67778352788526e-29 FALSE 4.13555e-06 ENSE00001303880_018 ENSE00001303880 018 17 78290943 78291112 + 45 90 35 G A 78291044 3261 102 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCATTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317243 80317244 80317244 exon -34 0.633333333333333 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCATTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 25 139 1 0.964252188677295 0.982126094338648 NA NA 1 0.964348753765759 NA NA 0 -9.65650884636737e-05 NA 0.982174376882879 NA -4.82825442318369e-05 NA FALSE NA 0 -1.234 . synonymous_variant LOW RNF213 HGNC 14539 ENST00000582970 16/68 rs377357981 1 NA A:0 A:0.0001 CGT G,A 8.341e-06 17:80317244 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 synonymous_variant 1.562933 0.12721 0.00914 0.706298 0.903247894547613 0 1.67778352788526e-29 FALSE 1.24053e-05 ENSE00001303880_020 ENSE00001303880 020 17 78290943 78291112 + 45 90 35 C T 78291048 3263 106 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGTTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317247 80317248 80317248 exon -30 0.677777777777778 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGTTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 86 25 1 1 1 NA NA 1 0.964348753765759 NA NA 0 0.0356512462342412 NA 0.982174376882879 NA 0.0178256231171206 NA FALSE NA 0.992 -0.112 . synonymous_variant LOW RNF213 HGNC 14539 ENST00000582970 16/68 1 NA GCT C,T 8.341e-06 17:80317248 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 synonymous_variant 1.528966 0.95295 0.49931 0.706298 0.84551154076724 0 1.67778352788526e-29 FALSE 4.1337e-06 ENSE00001303880_022 ENSE00001303880 022 17 78290943 78291112 + 45 90 35 G T 78291052 3265 110 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGTAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317251 80317252 80317252 exon -26 0.722222222222222 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGTAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 264 52 0.966440821892308 1 0.983220410946154 NA NA 1 0.964348753765759 NA NA -0.0335591781076916 0.0356512462342412 NA 0.982174376882879 NA 0.0010460340632748 NA FALSE NA 0.828 0.161 . missense_variant MODERATE RNF213 HGNC 14539 ENST00000582970 16/68 rs571534674 1 possibly_damaging(0.71) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGA G,T 0.0002502 17:80317252 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 missense_variant 2.951129 0.8662 0.37661 0.706298 0.894203080952088 0 1.67778352788526e-29 FALSE 0.000210834 ENSE00001303880_023 ENSE00001303880 023 17 78290943 78291112 + 45 90 35 A G 78291057 3266 115 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACGTGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT 80317142 80317312 80317256 80317257 80317257 exon -21 0.777777777777778 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACGTGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 80 469 1 1 1 NA NA 1 0.964348753765759 NA NA 0 0.0356512462342412 NA 0.982174376882879 NA 0.0178256231171206 NA FALSE NA 0.007 -2.798 . missense_variant MODERATE RNF213 HGNC 14539 ENST00000582970 16/68 1 benign(0.122) NA CAT A,G 8.342e-06 17:80317257 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 missense_variant 0.041814 0.83613 0.03538 0.706298 0.67260915354937 0 1.67778352788526e-29 FALSE 4.13613e-06 ENSE00001303880_024 ENSE00001303880 024 17 78290943 78291112 + 45 90 35 G A 78291094 3267 152 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGAGCAGTCTTTTCAGGGCGT 80317142 80317312 80317293 80317294 80317294 downstr_intron 17 1.5 CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGAGCAGTCTTTTCAGGGCGT CATTTAGTCGTGAGAGTGGGTGTGACCTGTGTGCGGGTTTTGCAGGTCTGGAGGCGGCTGGTGGAAATCCAATTCCCCGCGGAGCATGGCTGGAAGGAGTCGTTGCTGGGAGACATGGAATGGAGGCTCACAAAGGTACCAAAAGTTTGGGGGCAGTCTTTTCAGGGCGT mutant NA NA NA NA NA 590 621 0.954800487651621 1 0.97740024382581 NA NA 1 0.964348753765759 NA NA -0.0451995123483793 0.0356512462342412 NA 0.982174376882879 NA -0.00477413305706903 NA FALSE NA 0.073 3.093 rs113899492 intron_variant MODIFIER RNF213 HGNC 14539 ENST00000582970 16/67 rs113899492 1 A:0.0012 A:0.0045 A:0 NA A:0 A:0 A:0 A:0.0014 A:0 GGG G,A 0.0001002 17:80317294 RNF213 HGNC Symbol protein_coding 137920 ENSG00000173821 ENSE00003481809 intron_variant 0.285125 0.20651 0.33224 0.069865 0.710117911943729 0.056376 1.67778352788526e-29 FALSE 8.0394e-05 ENSE00001304037_000 ENSE00001304037 000 17 4381810 4381979 + 57 66 47 NA NA NA NA NA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA 4478514 4478684 NA NA NA NA NA NA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA natural 352 515 0.857512523068914 0.84353856172869 0.850525542398802 100 149 0.958827629070142 0.95667407401462 0.957750851542381 0.857512523068914 0.84353856172869 0.958827629070142 0.95667407401462 0 0 0 0 0.850525542398802 0.957750851542381 0 0 0 FALSE FALSE NA NA NA NA NA RP13-580F15.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPNS3 NA NA NA ENSG00000182557 ENSE00003534899 NA NA NA NA NA NA NA 2.77218256786725e-10 FALSE NA ENSE00001304037_005 ENSE00001304037 005 17 4381810 4381979 + 57 66 47 C G 4381840 444 31 GGTGGGGTTGGTGACTGGGATCTGGGAATCGTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA 4478514 4478684 4478544 4478545 4478545 upstr_intron -27 -0.456140350877193 GGTGGGGTTGGTGACTGGGATCTGGGAATCGTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA mutant 24 11 0.85 0.85 0.85 NA NA NA NA NA 0.857512523068914 0.84353856172869 0.958827629070142 0.95667407401462 -0.00751252306891381 0.00646143827131018 NA NA 0.850525542398802 0.957750851542381 -0.000525542398801815 NA NA NA FALSE 0.314 0.934 . downstream_gene_variant MODIFIER RP13-580F15.2 Clone_based_vega_gene NA ENST00000576086 rs367847748 1 NA G:0 G:0.0001 CCT C,G 8.666e-06 17:4478545 SPNS3 HGNC Symbol protein_coding 54520 ENSG00000182557 ENSE00003534899 intron_variant 0.408398 0.72248 0.28762 0.056701 0.706886084647844 0.174602 2.77218256786725e-10 FALSE 6.39705e-06 ENSE00001304037_007 ENSE00001304037 007 17 4381810 4381979 + 57 66 47 C T 4381845 446 36 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACTCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA 4478514 4478684 4478549 4478550 4478550 upstr_intron -22 -0.368421052631579 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACTCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA mutant 22 10 1 0.999440369841982 0.999720184920991 NA NA NA NA NA 0.857512523068914 0.84353856172869 0.958827629070142 0.95667407401462 0.142487476931086 0.155901808113292 NA NA 0.850525542398802 0.957750851542381 0.149194642522189 NA NA NA FALSE 0 -0.315 . downstream_gene_variant MODIFIER RP13-580F15.2 Clone_based_vega_gene NA ENST00000576086 1 NA CCC C,T 8.59e-06 17:4478550 SPNS3 HGNC Symbol protein_coding 54520 ENSG00000182557 ENSE00003534899 intron_variant 0.075076 0.18294 0.04073 0.056701 0.565608381252592 0.137154 2.77218256786725e-10 FALSE NA ENSE00001304037_011 ENSE00001304037 011 17 4381810 4381979 + 57 66 47 A G 4381904 450 95 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAGCTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA 4478514 4478684 4478608 4478609 4478609 exon -29 0.575757575757576 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAGCTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA mutant 19 33 0.85 0.85 0.85 NA NA NA NA NA 0.857512523068914 0.84353856172869 0.958827629070142 0.95667407401462 -0.00751252306891381 0.00646143827131018 NA NA 0.850525542398802 0.957750851542381 -0.000525542398801815 NA NA NA FALSE 1 4.766 NA NA NA RP13-580F15.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:4478609 SPNS3 HGNC Symbol protein_coding 54520 ENSG00000182557 ENSE00003534899 missense_variant 4.945599 0.96922 0.91373 0.554377 0.998662075006582 0 2.77218256786725e-10 FALSE 1.45487e-05 ENSE00001304037_014 ENSE00001304037 014 17 4381810 4381979 + 57 66 47 T C 4381916 453 107 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGCTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA 4478514 4478684 4478620 4478621 4478621 exon -17 0.757575757575758 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGCTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA mutant 103 189 0.85 0.85 0.85 NA NA NA NA NA 0.857512523068914 0.84353856172869 0.958827629070142 0.95667407401462 -0.00751252306891381 0.00646143827131018 NA NA 0.850525542398802 0.957750851542381 -0.000525542398801815 NA NA NA FALSE 1 3.982 . downstream_gene_variant MODIFIER RP13-580F15.2 Clone_based_vega_gene NA ENST00000576086 1 NA GTT T,C 4.144e-05 17:4478621 SPNS3 HGNC Symbol protein_coding 54520 ENSG00000182557 ENSE00003534899 missense_variant 3.258855 0.95387 0.85304 0.554377 0.993746256388945 0 2.77218256786725e-10 FALSE 5.35467e-05 ENSE00001304037_015 ENSE00001304037 015 17 4381810 4381979 + 57 66 47 G A 4381918 454 109 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTACCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA 4478514 4478684 4478622 4478623 4478623 exon -15 0.787878787878788 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTACCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA mutant 15 130 0.85 0.85 0.85 NA NA NA NA NA 0.857512523068914 0.84353856172869 0.958827629070142 0.95667407401462 -0.00751252306891381 0.00646143827131018 NA NA 0.850525542398802 0.957750851542381 -0.000525542398801815 NA NA NA FALSE 0.981 1.925 . downstream_gene_variant MODIFIER RP13-580F15.2 Clone_based_vega_gene NA ENST00000576086 COSM178914 1 NA TGC G,A 8.289e-06 17:4478623 SPNS3 HGNC Symbol protein_coding 54520 ENSG00000182557 ENSE00003534899 missense_variant 3.088009 0.87753 0.69203 0.554377 0.993142311307773 0 2.77218256786725e-10 FALSE NA ENSE00001304037_018 ENSE00001304037 018 17 4381810 4381979 + 57 66 47 G C 4381933 457 124 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGCTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA 4478514 4478684 4478637 4478638 4478638 downstr_intron 1 1.02173913043478 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGCTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA mutant 19 78 0 0 0 31 97 0 0 0 0.857512523068914 0.84353856172869 0.958827629070142 0.95667407401462 -0.857512523068914 -0.84353856172869 -0.958827629070142 -0.95667407401462 0.850525542398802 0.957750851542381 -0.850525542398802 -0.957750851542381 0.107225309143579 TRUE TRUE 1 6.795 . downstream_gene_variant MODIFIER RP13-580F15.2 Clone_based_vega_gene NA ENST00000576086 1 NA GGT G,C 4.153e-05 17:4478638 SPNS3 HGNC Symbol protein_coding 54520 ENSG00000182557 ENSE00003534899 splice_donor_variant 5.034878 0.98399 0.96638 0.078448 0.99502698272334 0.981404 2.77218256786725e-10 FALSE 0.000111802 ENSE00001304037_019 ENSE00001304037 019 17 4381810 4381979 + 57 66 47 G A 4381948 458 139 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCAGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA 4478514 4478684 4478652 4478653 4478653 downstr_intron 16 1.34782608695652 GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCAGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA GGTGGGGTTGGTGACTGGGATCTGGGAATCCTCACCCAGGCCACCCTCTGTCCACAGGTGTTCCTGGGCCTTGGGGAGCTGCTTCTGTCCTGCAACTGGGCAGTGGTTGCCGACATCCTGCTGGTAGGTGTGGGAGTCGGGGTGGTGGGCTGAGCAGGGGGAGCTGGAGA mutant 23 51 0.85 0.85 0.85 NA NA NA NA NA 0.857512523068914 0.84353856172869 0.958827629070142 0.95667407401462 -0.00751252306891381 0.00646143827131029 NA NA 0.850525542398802 0.957750851542381 -0.000525542398801759 NA NA NA FALSE 0 -0.62 . downstream_gene_variant MODIFIER RP13-580F15.2 Clone_based_vega_gene NA ENST00000576086 rs201064459 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0.0002 A:0.0019 CGG G,A 0.001218 17:4478653 SPNS3 HGNC Symbol protein_coding 54520 ENSG00000182557 ENSE00003534899 intron_variant 0.433916 0.12866 0.00568 0.078448 0.833736069060792 0.0482087 2.77218256786725e-10 FALSE 0.0016382 ENSE00001304095_000 ENSE00001304095 000 1 110458197 110458366 + 59 63 48 NA NA NA NA NA CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 NA NA NA NA NA NA CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT natural 761 1239 0.85 0.848207186108292 0.849103593054146 1102 1660 0.772698771538486 0.884070923326124 0.828384847432305 0.85 0.848207186108292 0.772698771538486 0.884070923326124 0 0 0 0 0.849103593054146 0.828384847432305 0 0 0 FALSE FALSE NA NA NA NA NA CSF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CSF1 NA NA NA ENSG00000184371 ENSE00001304095 NA NA NA NA NA NA NA 0.939718909454486 TRUE NA ENSE00001304095_001 ENSE00001304095 001 1 110458197 110458366 + 59 63 48 A G 110458212 3071 16 CTGAAGGCTGAGTTGGGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 109915589 109915590 109915590 upstr_intron -44 -0.728813559322034 CTGAAGGCTGAGTTGGGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant NA NA NA NA NA 99 111 0.803250381337306 0.85541597650582 0.829333178921563 0.85 0.848207186108292 0.772698771538486 0.884070923326124 NA NA 0.03055160979882 -0.0286549468203047 0.849103593054146 0.828384847432305 NA 0.000948331489257659 NA FALSE NA 0 1.548 . upstream_gene_variant MODIFIER CSF1 HGNC 2432 ENST00000526001 rs375319609 1 NA G:0 G:0.0001 GAG A,G 1.647e-05 1:109915590 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 intron_variant 0.326084 0.20525 0.26052 0.110006 0.650469022788381 0.0783 0.939718909454486 TRUE 8.13762e-06 ENSE00001304095_002 ENSE00001304095 002 1 110458197 110458366 + 59 63 48 T G 110458227 3072 31 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCGGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 109915604 109915605 109915605 upstr_intron -29 -0.474576271186441 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCGGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant 43 86 0.0302665235545965 0 0.0151332617772982 NA NA NA NA NA 0.85 0.848207186108292 0.772698771538486 0.884070923326124 -0.819733476445404 -0.848207186108292 NA NA 0.849103593054146 0.828384847432305 -0.833970331276848 NA NA NA TRUE 0.001 0.06 rs150146406 upstream_gene_variant MODIFIER CSF1 HGNC 2432 ENST00000526001 rs150146406 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CTG T,G 8.236e-06 1:109915605 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 intron_variant 0.149186 0.18418 0.1032 0.110006 0.480766511928133 0.130321 0.939718909454486 TRUE 1.62551e-05 ENSE00001304095_003 ENSE00001304095 003 1 110458197 110458366 + 59 63 48 C T 110458233 3073 37 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATTGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 109915610 109915611 109915611 upstr_intron -23 -0.372881355932203 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATTGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant NA NA NA NA NA 1236 262 0.972975947597225 0.824266206246867 0.898621076922046 0.85 0.848207186108292 0.772698771538486 0.884070923326124 NA NA 0.200277176058739 -0.0598047170792572 0.849103593054146 0.828384847432305 NA 0.0702362294897411 NA FALSE NA 0 -0.048 . upstream_gene_variant MODIFIER CSF1 HGNC 2432 ENST00000526001 rs556270658 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 1.647e-05 1:109915611 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 intron_variant 0.224396 0.18186 0.04311 0.110006 0.578156377375875 0.196762 0.939718909454486 TRUE 7.72044e-05 ENSE00001304095_004 ENSE00001304095 004 1 110458197 110458366 + 59 63 48 G A 110458234 3074 38 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCATTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 109915611 109915612 109915612 upstr_intron -22 -0.355932203389831 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCATTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant NA NA NA NA NA 391 94 0.99724508585651 0.999594110609839 0.998419598233174 0.85 0.848207186108292 0.772698771538486 0.884070923326124 NA NA 0.224546314318024 0.115523187283714 0.849103593054146 0.828384847432305 NA 0.170034750800869 NA FALSE NA 0 0.141 rs2275123 upstream_gene_variant MODIFIER CSF1 HGNC 2432 ENST00000526001 rs2275123 1 A:0.1917 A:0.1694 A:0.1657 NA A:0.376 A:0.1292 A:0.1145 A:0.1882 A:0.1636 CGT G,A 0.183 1:109915612 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 intron_variant -0.111706 0.11854 0.00628 0.110006 0.721877452257066 0.196762 0.939718909454486 TRUE 0.183602 ENSE00001304095_007 ENSE00001304095 007 1 110458197 110458366 + 59 63 48 C T 110458245 3077 49 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTTTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 109915622 109915623 109915623 upstr_intron -11 -0.169491525423729 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTTTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant NA NA NA NA NA 755 726 0.990888279989651 0.999564069439596 0.995226174714624 0.85 0.848207186108292 0.772698771538486 0.884070923326124 NA NA 0.218189508451165 0.115493146113472 0.849103593054146 0.828384847432305 NA 0.166841327282319 NA FALSE NA 0.758 0.357 . upstream_gene_variant MODIFIER CSF1 HGNC 2432 ENST00000526001 1 NA TCT C,T 8.236e-06 1:109915623 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 intron_variant 0.64955 0.87298 0.61888 0.110006 0.50107486150677 0.372798 0.939718909454486 TRUE NA ENSE00001304095_008 ENSE00001304095 008 1 110458197 110458366 + 59 63 48 G A 110458267 3078 71 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAAATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 109915644 109915645 109915645 exon 12 0.19047619047619 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAAATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant NA NA NA NA NA 113 126 0.8 0.78542732042794 0.79271366021397 0.85 0.848207186108292 0.772698771538486 0.884070923326124 NA NA 0.0273012284615142 -0.0986436028981847 0.849103593054146 0.828384847432305 NA -0.0356711872183353 NA FALSE NA 1 0.665 . upstream_gene_variant MODIFIER CSF1 HGNC 2432 ENST00000526001 1 NA AGA G,A 8.236e-06 1:109915645 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 synonymous_variant -0.202845 0.88101 0.59396 0.706548 0.421048024351609 0 0.939718909454486 TRUE 4.0623e-06 ENSE00001304095_012 ENSE00001304095 012 1 110458197 110458366 + 59 63 48 G T 110458279 3082 83 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCTTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 109915656 109915657 109915657 exon 24 0.380952380952381 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCTTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant NA NA NA NA NA 263 156 0.0636950820535535 0.00205726761508727 0.0328761748343204 0.85 0.848207186108292 0.772698771538486 0.884070923326124 NA NA -0.709003689484932 -0.882013655711037 0.849103593054146 0.828384847432305 NA -0.795508672597985 NA TRUE NA 0.294 -0.225 NA NA NA CSF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:109915657 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 synonymous_variant 0.088974 0.21109 0.12987 0.706548 0.554615726640209 0 0.939718909454486 TRUE 3.65654e-05 ENSE00001304095_014 ENSE00001304095 014 1 110458197 110458366 + 59 63 48 T C 110458293 3084 97 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATCTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT 109915574 109915744 109915670 109915671 109915671 exon -26 0.603174603174603 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATCTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant NA NA NA NA NA 97 103 1 1 1 0.85 0.848207186108292 0.772698771538486 0.884070923326124 NA NA 0.227301228461514 0.115929076673876 0.849103593054146 0.828384847432305 NA 0.171615152567695 NA FALSE NA 1 1.209 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CSF1 HGNC 2432 ENST00000526001 1/4 rs375736026 1 NA C:0.0002 C:0 TTT T,C 8.236e-06 1:109915671 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 missense_variant 3.530841 0.31977 0.60978 0.706548 0.995541135631604 0 0.939718909454486 TRUE NA ENSE00001304095_016 ENSE00001304095 016 1 110458197 110458366 + 59 63 48 C G 110458354 3086 158 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGGCTGCATGCAACT 109915574 109915744 109915731 109915732 109915732 downstr_intron 36 1.76595744680851 CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGGCTGCATGCAACT CTGAAGGCTGAGTTGAGCTGTAGGTTACCCTGCAATCGTTGGCCTGCTCTCTCTTACAGATTGACAGTCAGATGGAGACCTCGTGCCAAATTACATTTGAGTTTGTAGACCAGGAACAGTTGGTGAGTGATGGCTTTTTACAAAATCCATGCACCAGCCTGCATGCAACT mutant NA NA NA NA NA 1080 656 0.8 0.784914469518363 0.792457234759181 0.85 0.848207186108292 0.772698771538486 0.884070923326124 NA NA 0.0273012284615142 -0.0991564538077615 0.849103593054146 0.828384847432305 NA -0.0359276126731237 NA FALSE NA 0 -0.157 . intron_variant&non_coding_transcript_variant MODIFIER CSF1 HGNC 2432 ENST00000526001 1/3 1 NA GCC C,G 8.236e-06 1:109915732 CSF1 HGNC Symbol protein_coding 20750 ENSG00000184371 ENSE00001304095 intron_variant -0.250125 0.14321 0.09455 0.062308 0.542367861732744 0.0497153 0.939718909454486 TRUE 4.06646e-06 ENSE00001304806_000 ENSE00001304806 000 21 40871705 40871874 + 44 93 33 NA NA NA NA NA CAGTCAAACTGCTGTGAAAAAGCGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCACATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAACCCAGGATATGAGCTCAAAAACAGAAAA 39499778 39499948 NA NA NA NA NA NA TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG natural NA NA NA NA NA 1065 834 0.946283333763108 0.976966098154363 0.961624715958736 NA NA 0.946283333763108 0.976966098154363 NA NA 0 0 NA 0.961624715958736 NA 0 NA FALSE NA NA NA NA NA NA SH3BGR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SH3BGR NA NA NA ENSG00000185437 ENSE00001304806 NA NA NA NA NA NA NA 0.00035235304533994 FALSE NA ENSE00001304806_001 ENSE00001304806 001 21 40871705 40871874 + 44 93 33 T G 40871721 199 17 CAGTCAAACTGCTGTGAAAAAGCGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCACATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAACCCAGGATATGCGCTCAAAAACAGAAAA 39499778 39499948 39499794 39499795 39499795 upstr_intron -28 -0.613636363636364 TTTTCTGTTTTTGAGCGCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 320 255 0.998054808321714 1 0.999027404160857 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0517714745586058 0.023033901845637 NA 0.961624715958736 NA 0.0374026882021214 NA FALSE NA 0 -0.103 . intron_variant MODIFIER SH3BGR HGNC 10822 ENST00000423596 1/3 rs201195965 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CTC T,G 3.295e-05 21:39499795 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 intron_variant 0.445739 0.23475 0.07887 0.074636 0.552540193986713 0.0795012 0.00035235304533994 FALSE 3.01854e-05 ENSE00001304806_002 ENSE00001304806 002 21 40871705 40871874 + 44 93 33 T C 40871726 200 22 CAGTCAAACTGCTGTGAAAAAGCGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCACATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAACCCAGGGTATGAGCTCAAAAACAGAAAA 39499778 39499948 39499799 39499800 39499800 upstr_intron -23 -0.5 TTTTCTGTTTTTGAGCTCATACCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 470 11 0.998365748852633 0.8 0.899182874426316 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0520824150895243 -0.176966098154363 NA 0.961624715958736 NA -0.0624418415324193 NA FALSE NA 0 -1 rs78133154 intron_variant MODIFIER SH3BGR HGNC 10822 ENST00000423596 1/3 rs78133154 1 C:0.0310 C:0.0325 C:0.0187 NA C:0.002 C:0.0408 C:0.0573 C:0.039 C:0.0337 ATC T,C 0.034 21:39499800 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 intron_variant -0.064319 0.10807 0.00085 0.074636 0.652859329683468 0.0443366 0.00035235304533994 FALSE 0.0330851 ENSE00001304806_004 ENSE00001304806 004 21 40871705 40871874 + 44 93 33 G A 40871732 202 28 CAGTCAAACTGCTGTGAAAAAGCGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCACATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAATCCAGGATATGAGCTCAAAAACAGAAAA 39499778 39499948 39499805 39499806 39499806 upstr_intron -17 -0.363636363636364 TTTTCTGTTTTTGAGCTCATATCCTGGATTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 138 171 1 0.958477844877297 0.979238922438648 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0537166662368915 -0.0184882532770663 NA 0.961624715958736 NA 0.0176142064799126 NA FALSE NA 0.212 0.38 . intron_variant MODIFIER SH3BGR HGNC 10822 ENST00000423596 1/3 rs374726050 1 NA A:0 A:0.0001 GGT G,A 8.236e-06 21:39499806 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 intron_variant 0.054306 0.14031 0.05121 0.074636 0.407652550856843 0.0890059 0.00035235304533994 FALSE 4.13548e-06 ENSE00001304806_005 ENSE00001304806 005 21 40871705 40871874 + 44 93 33 T C 40871740 203 36 CAGTCAAACTGCTGTGAAAAAGCGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCACATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATGAAGGAAACCCAGGATATGAGCTCAAAAACAGAAAA 39499778 39499948 39499813 39499814 39499814 upstr_intron -9 -0.181818181818182 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTCATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 410 202 0.988872040272359 1 0.99443602013618 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0425887065092507 0.023033901845637 NA 0.961624715958736 NA 0.0328113041774439 NA FALSE NA 0.129 -0.085 . intron_variant MODIFIER SH3BGR HGNC 10822 ENST00000423596 1/3 1 NA TTA T,C 1.647e-05 21:39499814 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 intron_variant 0.243633 0.38319 0.04242 0.074636 0.723438332627928 0.0999591 0.00035235304533994 FALSE 8.15787e-06 ENSE00001304806_010 ENSE00001304806 010 21 40871705 40871874 + 44 93 33 A G 40871779 208 75 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAGCTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG 39499778 39499948 39499852 39499853 39499853 exon 31 0.333333333333333 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAGCTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 108 69 1 0.995387924090354 0.997693962045177 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0537166662368915 0.0184218259359907 NA 0.961624715958736 NA 0.0360692460864411 NA FALSE NA 0.094 1.08 . missense_variant MODERATE SH3BGR HGNC 10822 ENST00000423596 2/4 1 deleterious_low_confidence(0.04) unknown(0) NA AAC .,G 1.647e-05 21:39499853 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 missense_variant -0.396452 0.33397 0.03287 0.638212 0.52268480726201 0 0.00035235304533994 FALSE 8.12183e-06 ENSE00001304806_011 ENSE00001304806 011 21 40871705 40871874 + 44 93 33 G A 40871784 209 80 CAGTCAAACTGCTGTGAAAAAGCGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCACATCTTCACTGCCCTCTTTTTGTGCTTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAACCCAGGATATGAGCTCAAAAACAGAAAA 39499778 39499948 39499857 39499858 39499858 exon 36 0.387096774193548 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAAGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 86 38 0.999520487295811 0.998992174066779 0.999256330681295 NA NA 0.946283333763108 0.976966098154363 NA NA 0.053237153532703 0.0220260759124163 NA 0.961624715958736 NA 0.0376316147225597 NA FALSE NA 0.998 2.715 . synonymous_variant LOW SH3BGR HGNC 10822 ENST00000423596 2/4 1 NA AGG .,A 8.236e-06 21:39499858 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 synonymous_variant -0.03539 0.92826 0.7299 0.638212 0.353960631697964 0 0.00035235304533994 FALSE 8.12183e-06 ENSE00001304806_016 ENSE00001304806 016 21 40871705 40871874 + 44 93 33 T C 40871810 214 106 CAGTCAAACTGCTGTGAAAAAGCGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCGCATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAACCCAGGATATGAGCTCAAAAACAGAAAA 39499778 39499948 39499883 39499884 39499884 exon -32 0.666666666666667 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGCGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 75 460 1 0.999917225171167 0.999958612585583 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0537166662368915 0.0229511270168037 NA 0.961624715958736 NA 0.0383338966268476 NA FALSE NA 0 -1.098 rs9974333 missense_variant MODERATE SH3BGR HGNC 10822 ENST00000423596 2/4 rs9974333&COSM1179691 1 tolerated_low_confidence(1) unknown(0) T:0.4491 C:0.4334 C:0.6124 NA C:0.6905 C:0.5288 C:0.545 C:0.4501 C:0.5348 GTG .,C 0.557 21:39499884 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 missense_variant -1.327531 0.09198 0.00198 0.638212 0.613281967322507 0 0.00035235304533994 FALSE 0.561511 ENSE00001304806_017 ENSE00001304806 017 21 40871705 40871874 + 44 93 33 G C 40871811 215 107 CAGTCAAACTGCTGTGAAAAAGCGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCGACATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAACCCAGGATATGAGCTCAAAAACAGAAAA 39499778 39499948 39499884 39499885 39499885 exon -31 0.67741935483871 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTCGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 177 19 1 1 1 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0537166662368915 0.023033901845637 NA 0.961624715958736 NA 0.0383752840412643 NA FALSE NA 0 -2.151 . synonymous_variant LOW SH3BGR HGNC 10822 ENST00000423596 2/4 COSM579201 1 NA TGG .,C 2.471e-05 21:39499885 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 synonymous_variant -0.366756 0.15036 0.01451 0.638212 0.552855047584306 0 0.00035235304533994 FALSE 1.21832e-05 ENSE00001304806_019 ENSE00001304806 019 21 40871705 40871874 + 44 93 33 C T 40871820 217 116 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTTCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG 39499778 39499948 39499893 39499894 39499894 exon -22 0.774193548387097 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTTCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 547 126 0.992634458805957 0.998742740873436 0.995688599839696 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0463511250428482 0.0217766427190728 NA 0.961624715958736 NA 0.0340638838809605 NA FALSE NA 0 -1.87 . synonymous_variant LOW SH3BGR HGNC 10822 ENST00000423596 2/4 rs560505994 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCC .,T 2.471e-05 21:39499894 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 synonymous_variant 0.761392 0.15136 0.00737 0.638212 0.458040143468093 0 0.00035235304533994 FALSE 1.21846e-05 ENSE00001304806_025 ENSE00001304806 025 21 40871705 40871874 + 44 93 33 C T 40871851 223 147 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTTGCTTTTTCACAGCAGTTTGACTG 39499778 39499948 39499924 39499925 39499925 downstr_intron 10 1.3125 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTTGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 14 46 1 1 1 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0537166662368915 0.023033901845637 NA 0.961624715958736 NA 0.0383752840412643 NA FALSE NA 0 -0.429 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:39499925 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 intron_variant -0.154265 0.08773 0.00097 0.074636 0.449628790162599 0.089203 0.00035235304533994 FALSE 4.06825e-05 ENSE00001304806_026 ENSE00001304806 026 21 40871705 40871874 + 44 93 33 C A 40871851 224 147 CAGTCAAACTGCTGTGAAAAAGCTAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCACATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAACCCAGGATATGAGCTCAAAAACAGAAAA 39499778 39499948 39499924 39499925 39499925 downstr_intron 10 1.3125 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTAGCTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 1113 98 0.981304770614022 0.988330236975945 0.984817503794983 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0350214368509135 0.0113641388215819 NA 0.961624715958736 NA 0.0231927878362477 NA FALSE NA 0 -0.429 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SH3BGR NA NA NA ENSG00000185437 ENSE00001304806 intron_variant -0.15851 0.19324 0.01475 0.074636 0.4323097827542 0.089203 0.00035235304533994 FALSE 4.06825e-06 ENSE00001304806_027 ENSE00001304806 027 21 40871705 40871874 + 44 93 33 G A 40871852 225 148 CAGTCAAACTGCTGTGAAAAAGTGAAAACTCACATTCTTCTCCTGGGCTTCAGGGAGGTTGCCCACATCTTCACTGCCCTCTTTTTGTGCCTCAGTTTCTCCACCTTCTTCAGCCTTCTCTGATCCCTGGTCATAAAGGAAACCCAGGATATGAGCTCAAAAACAGAAAA 39499778 39499948 39499925 39499926 39499926 downstr_intron 11 1.34375 TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCACTTTTTCACAGCAGTTTGACTG TTTTCTGTTTTTGAGCTCATATCCTGGGTTTCCTTTATGACCAGGGATCAGAGAAGGCTGAAGAAGGTGGAGAAACTGAGGCACAAAAAGAGGGCAGTGAAGATGTGGGCAACCTCCCTGAAGCCCAGGAGAAGAATGTGAGTTTTCGCTTTTTCACAGCAGTTTGACTG mutant NA NA NA NA NA 215 384 1 0.997891230056818 0.998945615028409 NA NA 0.946283333763108 0.976966098154363 NA NA 0.0537166662368915 0.0209251319024555 NA 0.961624715958736 NA 0.0373208990696735 NA FALSE NA 0 0.432 NA NA NA SH3BGR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:39499926 SH3BGR HGNC Symbol protein_coding 69651 ENSG00000185437 ENSE00001304806 intron_variant -0.212206 0.17479 0.02487 0.074636 0.399191806863935 0.0528747 0.00035235304533994 FALSE 3.66178e-05 ENSE00001305857_000 ENSE00001305857 000 9 134738409 134738578 - 41 78 51 NA NA NA NA NA TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 NA NA NA NA NA NA TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG natural 14 25 0.997326755268709 0.99956167306333 0.998444214166019 459 389 0.854200163185059 0.923920746669636 0.889060454927348 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 0 0 0 0 0.998444214166019 0.889060454927348 0 0 0 FALSE FALSE NA NA NA NA NA MED27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED27 NA NA NA ENSG00000160563 ENSE00001305857 NA NA NA NA NA NA NA 0.00360424731766106 FALSE NA ENSE00001305857_001 ENSE00001305857 001 9 134738409 134738578 - 41 78 51 G A 134738426 3190 153 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTTTCCTGTTTAAACCTCAG 131863021 131863191 131863038 131863039 131863039 downstr_intron 24 1.6 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTTTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 663 610 0.994856335995006 0.9973937255771 0.996125030786053 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.140656172809946 0.0734729789074642 0.998444214166019 0.889060454927348 NA 0.107064575858705 NA FALSE NA 0.005 0.57 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 7/7 rs200358715 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGA G,A 8.236e-06 9:131863039 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 intron_variant 0.196158 0.24422 0.037 0.088506 0.748848206032262 0.046323 0.00360424731766106 FALSE 8.13002e-06 ENSE00001305857_002 ENSE00001305857 002 9 134738409 134738578 - 41 78 51 T A 134738434 3191 145 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGTGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863046 131863047 131863047 downstr_intron 16 1.4 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGTGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 404 1146 1 0.997229572554928 0.998614786277464 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.145799836814941 0.0733088258852924 0.998444214166019 0.889060454927348 NA 0.109554331350116 NA FALSE NA 0.001 0.219 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 7/7 1 NA CTC T,A 8.236e-06 9:131863047 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 intron_variant 0.664843 0.23992 0.10125 0.088506 0.719316223242926 0.046323 0.00360424731766106 FALSE 4.06316e-06 ENSE00001305857_004 ENSE00001305857 004 9 134738409 134738578 - 41 78 51 G A 134738453 3193 126 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTTATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863065 131863066 131863066 exon -4 0.961538461538462 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTTATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 22 600 1 0.99936318728933 0.999681593644665 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.145799836814941 0.0754424406196949 0.998444214166019 0.889060454927348 NA 0.110621138717318 NA FALSE NA 1 4.016 . synonymous_variant LOW MED27 HGNC 2377 ENST00000292035 7/8 1 NA TGA G,A 1.647e-05 9:131863066 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 synonymous_variant 1.450421 0.9806 0.94278 0.6512 0.788034961253212 0 0.00360424731766106 FALSE 1.62462e-05 ENSE00001305857_005 ENSE00001305857 005 9 134738409 134738578 - 41 78 51 C A 134738465 3194 114 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTTGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863077 131863078 131863078 exon -16 0.807692307692308 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTTGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 94 771 0.987546475676652 0.992754481377611 0.990150478527132 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.133346312491593 0.0688337347079753 0.998444214166019 0.889060454927348 NA 0.101090023599784 NA FALSE NA 0.999 0.722 . synonymous_variant LOW MED27 HGNC 2377 ENST00000292035 7/8 1 NA CCA C,A 8.236e-06 9:131863078 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 synonymous_variant 2.304277 0.97484 0.83513 0.6512 0.83367505898012 0 0.00360424731766106 FALSE 4.06141e-06 ENSE00001305857_006 ENSE00001305857 006 9 134738409 134738578 - 41 78 51 A G 134738466 3195 113 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGCGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863078 131863079 131863079 exon -17 0.794871794871795 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGCGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 94 31 1 1 1 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.145799836814941 0.0760792533303644 0.998444214166019 0.889060454927348 NA 0.110939545072652 NA FALSE NA 1 9.278 . missense_variant MODERATE MED27 HGNC 2377 ENST00000292035 7/8 1 tolerated(1) benign(0.017) NA CAC A,G 8.236e-06 9:131863079 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 missense_variant 1.672042 0.99193 0.98871 0.6512 0.585751925657304 0 0.00360424731766106 FALSE 8.12242e-06 ENSE00001305857_007 ENSE00001305857 007 9 134738409 134738578 - 41 78 51 G A 134738468 3196 111 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTTGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863080 131863081 131863081 exon -19 0.769230769230769 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTTGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 318 556 0.996609396683525 0.994914493826692 0.995761945255108 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.142409233498466 0.0709937471570561 0.998444214166019 0.889060454927348 NA 0.106701490327761 NA FALSE NA 0.073 -0.503 . synonymous_variant LOW MED27 HGNC 2377 ENST00000292035 7/8 rs201713969 1 NA A:0 A:0.0001 CGA G,A 3.295e-05 9:131863081 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 synonymous_variant 1.809388 0.17282 0.05882 0.6512 0.688412056326501 0 0.00360424731766106 FALSE 3.24913e-05 ENSE00001305857_009 ENSE00001305857 009 9 134738409 134738578 - 41 78 51 G A 134738483 3198 96 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCTCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863095 131863096 131863096 exon -34 0.576923076923077 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCTCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 431 182 0.996116909079036 1 0.998058454539518 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.141916745893977 0.0760792533303644 0.998444214166019 0.889060454927348 NA 0.10899799961217 NA FALSE NA 0.919 0.028 . synonymous_variant LOW MED27 HGNC 2377 ENST00000292035 7/8 1 NA GGG G,A 8.236e-06 9:131863096 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 synonymous_variant 1.042913 0.96303 0.71985 0.6512 0.689192697289878 0 0.00360424731766106 FALSE 4.06121e-06 ENSE00001305857_010 ENSE00001305857 010 9 134738409 134738578 - 41 78 51 G A 134738498 3199 81 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTTCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863110 131863111 131863111 exon 30 0.384615384615385 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTTCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 162 103 1 0.957852055515657 0.978926027757828 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.145799836814941 0.0339313088460212 0.998444214166019 0.889060454927348 NA 0.0898655728304809 NA FALSE NA 0.254 -0.369 rs148428046 synonymous_variant LOW MED27 HGNC 2377 ENST00000292035 7/8 rs148428046 1 A:0.0040 A:0.0151 A:0 NA A:0 A:0 A:0 A:0.0079 A:0 GGA G,A 0.0006424 9:131863111 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 synonymous_variant 1.178372 0.93835 0.25439 0.6512 0.80013942256174 0 0.00360424731766106 FALSE 0.000479238 ENSE00001305857_011 ENSE00001305857 011 9 134738409 134738578 - 41 78 51 A G 134738531 3200 48 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCCCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863143 131863144 131863144 upstr_intron -4 -0.0588235294117647 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCCCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 59 127 1 0.998752656888984 0.999376328444492 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.145799836814941 0.0748319102193479 0.998444214166019 0.889060454927348 NA 0.110315873517144 NA FALSE NA 0.736 -0.182 . splice_region_variant&intron_variant LOW MED27 HGNC 2377 ENST00000292035 6/7 rs577161145 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GAG A,G 7.413e-05 9:131863144 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 splice_region_variant 0.642408 0.2451 0.04734 0.088506 0.475404694238479 0.361045 0.00360424731766106 FALSE 4.8796e-05 ENSE00001305857_012 ENSE00001305857 012 9 134738409 134738578 - 41 78 51 A T 134738543 3201 36 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTAGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863155 131863156 131863156 upstr_intron -16 -0.294117647058824 TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTAGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 797 126 0.803834579251203 0.957734531161361 0.880784555206282 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA -0.0503655839338566 0.0338137844917252 0.998444214166019 0.889060454927348 NA -0.00827589972106568 NA FALSE NA 0.696 4.528 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 6/7 1 NA CAA A,T 1.647e-05 9:131863156 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 intron_variant -0.219501 0.30717 0.55085 0.088506 0.538603427725601 0.562814 0.00360424731766106 FALSE 4.07053e-06 ENSE00001305857_013 ENSE00001305857 013 9 134738409 134738578 - 41 78 51 C A 134738548 3202 31 TCTATGCCAGCTTGGAGTGGCCGCTAACTCTTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863160 131863161 131863161 upstr_intron -21 -0.392156862745098 TCTATGCCAGCTTGGAGTGGCCGCTAACTCTTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 28 87 0.971443878997303 0.881339422845343 0.926391650921323 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.117243715812244 -0.0425813238242924 0.998444214166019 0.889060454927348 NA 0.0373311959939757 NA FALSE NA 0.025 0.816 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:131863161 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 intron_variant 0.117561 0.17157 0.00294 0.088506 0.474109101369898 0.0786111 0.00360424731766106 FALSE 1.63074e-05 ENSE00001305857_014 ENSE00001305857 014 9 134738409 134738578 - 41 78 51 C T 134738548 3203 31 TCTATGCCAGCTTGGAGTGGCCGCTAACTCATCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863160 131863161 131863161 upstr_intron -21 -0.392156862745098 TCTATGCCAGCTTGGAGTGGCCGCTAACTCATCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 307 407 0.995490596074767 1 0.997745298037383 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.141290432889707 0.0760792533303644 0.998444214166019 0.889060454927348 NA 0.108684843110036 NA FALSE NA 0.025 0.816 NA NA NA MED27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED27 NA NA NA ENSG00000160563 ENSE00001305857 intron_variant 0.121332 0.16417 0.0194 0.088506 0.614165805245902 0.0786111 0.00360424731766106 FALSE 2.85379e-05 ENSE00001305857_015 ENSE00001305857 015 9 134738409 134738578 - 41 78 51 A G 134738554 3204 25 TCTATGCCAGCTTGGAGTGGCCGCCAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863166 131863167 131863167 upstr_intron -27 -0.509803921568627 TCTATGCCAGCTTGGAGTGGCCGCCAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 91 10 1 1 1 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.145799836814941 0.0760792533303644 0.998444214166019 0.889060454927348 NA 0.110939545072652 NA FALSE NA 0.547 4.174 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 6/7 1 NA TAG A,G 8.236e-06 9:131863167 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 intron_variant 0.183809 0.27442 0.39559 0.088506 0.478601226312675 0.0612676 0.00360424731766106 FALSE 4.08237e-06 ENSE00001305857_016 ENSE00001305857 016 9 134738409 134738578 - 41 78 51 C T 134738556 3205 23 TCTATGCCAGCTTGGAGTGGCCACTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863168 131863169 131863169 upstr_intron -29 -0.549019607843137 TCTATGCCAGCTTGGAGTGGCCACTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 100 82 1 0.95935198673685 0.979675993368425 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.145799836814941 0.0354312400672144 0.998444214166019 0.889060454927348 NA 0.0906155384410775 NA FALSE NA 0.001 -0.424 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 6/7 1 NA GCG C,T 2.471e-05 9:131863169 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 intron_variant -0.05618 0.16341 0.02121 0.088506 0.562261856677001 0.0612676 0.00360424731766106 FALSE 2.86423e-05 ENSE00001305857_018 ENSE00001305857 018 9 134738409 134738578 - 41 78 51 C T 134738562 3207 17 TCTATGCCAGCTTGGAATGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG 131863021 131863191 131863174 131863175 131863175 upstr_intron -35 -0.666666666666667 TCTATGCCAGCTTGGAATGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG TCTATGCCAGCTTGGAGTGGCCGCTAACTCGTCTTTGTCCTTCACTCTCAGGTGACAGACCATGCCACCACTGCCCTGCTCCACTATCAGCTGCCCCAGATGCCGGATGTCGTGGTCCGATCCTTCATGGTAAGTGGCTTCAAGAGTCAGGTCTCCTGTTTAAACCTCAG mutant NA NA NA NA NA 481 232 1 0.999317696788969 0.999658848394484 0.997326755268709 0.99956167306333 0.854200163185059 0.923920746669636 NA NA 0.145799836814941 0.0753969501193329 0.998444214166019 0.889060454927348 NA 0.110598393467137 NA FALSE NA 0.006 0.086 . intron_variant MODIFIER MED27 HGNC 2377 ENST00000292035 6/7 1 NA ACT C,T 8.236e-06 9:131863175 MED27 HGNC Symbol protein_coding 219801 ENSG00000160563 ENSE00001305857 intron_variant 0.599286 0.50996 0.07315 0.088506 0.649526778613551 0.603259 0.00360424731766106 FALSE 1.22852e-05 ENSE00001305900_000 ENSE00001305900 000 8 144400143 144400312 - 45 69 56 NA NA NA NA NA GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 NA NA NA NA NA NA GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC natural 16 15 0.996404045742179 0.993267112614022 0.994835579178101 200 378 1 0.970272731556607 0.985136365778303 0.996404045742179 0.993267112614022 1 0.970272731556607 0 0 0 0 0.994835579178101 0.985136365778303 0 0 0 FALSE FALSE NA NA NA NA NA TOP1MT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOP1MT NA NA NA ENSG00000184428 ENSE00003404135 NA NA NA NA NA NA NA 1.63072339882279e-19 FALSE NA ENSE00001305900_003 ENSE00001305900 003 8 144400143 144400312 - 45 69 56 G A 144400156 3035 157 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGTGGCGGCAGGACCC 143317972 143318142 143317985 143317986 143317986 downstr_intron 32 1.72727272727273 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGTGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 148 173 1 0.999779715214702 0.999889857607351 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA 0 0.0295069836580946 0.994835579178101 0.985136365778303 NA 0.0147534918290473 NA FALSE NA 0 -1.186 . intron_variant MODIFIER TOP1MT HGNC 29787 ENST00000523676 10/14 rs368793499 1 NA A:0.0002 A:0 CGC G,A 2.471e-05 8:143317986 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 intron_variant -0.440268 0.06064 0.0049 0.262962 0.863098183126993 0.0686016 1.63072339882279e-19 FALSE 4.87626e-05 ENSE00001305900_007 ENSE00001305900 007 8 144400143 144400312 - 45 69 56 C T 144400175 3039 138 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCATGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318004 143318005 143318005 downstr_intron 13 1.29545454545455 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCATGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 637 131 0.959144810298211 1 0.979572405149105 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA -0.0408551897017894 0.029727268443393 0.994835579178101 0.985136365778303 NA -0.00556396062919817 NA FALSE NA 0 -0.948 . intron_variant MODIFIER TOP1MT HGNC 29787 ENST00000523676 10/14 rs374948305 1 NA T:0.0002 T:0 ACG C,T 3.295e-05 8:143318005 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 intron_variant 0.235804 0.15005 0.01123 0.262962 0.684268782903779 0.0513706 1.63072339882279e-19 FALSE 2.84285e-05 ENSE00001305900_008 ENSE00001305900 008 8 144400143 144400312 - 45 69 56 C T 144400180 3040 133 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCAGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318009 143318010 143318010 downstr_intron 8 1.18181818181818 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCAGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 207 823 1 0.99995374520312 0.99997687260156 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA 0 0.0296810136465132 0.994835579178101 0.985136365778303 NA 0.0148405068232566 NA FALSE NA 0 -0.043 rs184302519 splice_region_variant&intron_variant LOW TOP1MT HGNC 29787 ENST00000523676 10/14 rs184302519 1 T:0.0006 T:0.0008 T:0.0029 NA T:0 T:0 T:0 T:0.0041 T:0.0008 CCG C,T 0.0009307 8:143318010 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 splice_region_variant 0.443741 0.12743 0.00319 0.262962 0.865572754751173 0.051962 1.63072339882279e-19 FALSE 0.000990943 ENSE00001305900_020 ENSE00001305900 020 8 144400143 144400312 - 45 69 56 T A 144400207 3052 106 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGTCCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318036 143318037 143318037 exon -20 0.72463768115942 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGTCCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 67 371 0.956072390626806 0.999573474864109 0.977822932745457 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA -0.0439276093731938 0.0293007433075017 0.994835579178101 0.985136365778303 NA -0.0073134330328461 NA FALSE NA 1 4.952 . missense_variant MODERATE TOP1MT HGNC 29787 ENST00000523676 10/15 1 deleterious(0) possibly_damaging(0.841) NA GTC T,A 8.236e-06 8:143318037 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 missense_variant 4.197438 0.97123 0.95229 0.634777 0.896253120651537 0 1.63072339882279e-19 FALSE 4.06078e-06 ENSE00001305900_021 ENSE00001305900 021 8 144400143 144400312 - 45 69 56 G A 144400209 3053 104 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGATGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318038 143318039 143318039 exon -22 0.695652173913043 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGATGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 731 288 1 1 1 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA 0 0.029727268443393 0.994835579178101 0.985136365778303 NA 0.0148636342216965 NA FALSE NA 0.009 -0.521 rs34884995 synonymous_variant LOW TOP1MT HGNC 29787 ENST00000523676 10/15 rs34884995 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0041 A:0 CGT G,A 0.0003871 8:143318039 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 synonymous_variant 0.144055 0.93225 0.04793 0.634777 0.553508893594912 0 1.63072339882279e-19 FALSE 0.000312678 ENSE00001305900_022 ENSE00001305900 022 8 144400143 144400312 - 45 69 56 G T 144400214 3054 99 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCAGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318043 143318044 143318044 exon -27 0.623188405797101 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCAGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 596 131 0.998281471498002 1 0.999140735749001 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA -0.00171852850199794 0.029727268443393 0.994835579178101 0.985136365778303 NA 0.0140043699706975 NA FALSE NA 0.004 1.786 NA NA NA TOP1MT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:143318044 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 synonymous_variant 0.261483 0.2092 0.02411 0.634777 0.810986392023781 0 1.63072339882279e-19 FALSE 6.49725e-05 ENSE00001305900_026 ENSE00001305900 026 8 144400143 144400312 - 45 69 56 G A 144400218 3058 95 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGATCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318047 143318048 143318048 exon -31 0.565217391304348 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGATCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 551 256 0.858834812819834 0.8 0.829417406409917 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA -0.141165187180166 -0.170272731556607 0.994835579178101 0.985136365778303 NA -0.155718959368386 NA FALSE NA 0.002 -0.831 . synonymous_variant LOW TOP1MT HGNC 29787 ENST00000523676 10/15 rs375045202 1 NA A:0.0002 A:0.0001 GGT G,A 8.236e-06 8:143318048 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 synonymous_variant -0.520865 0.88973 0.12047 0.634777 0.804244674832751 0 1.63072339882279e-19 FALSE 4.06065e-06 ENSE00001305900_029 ENSE00001305900 029 8 144400143 144400312 - 45 69 56 G C 144400245 3061 68 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAAGTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318074 143318075 143318075 exon 12 0.173913043478261 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAAGTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 165 53 1 1 1 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA 0 0.029727268443393 0.994835579178101 0.985136365778303 NA 0.0148636342216965 NA FALSE NA 0.993 0.12 . missense_variant MODERATE TOP1MT HGNC 29787 ENST00000523676 10/15 1 deleterious(0.01) probably_damaging(1) NA AGT G,C 8.236e-06 8:143318075 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 missense_variant 3.907927 0.95219 0.86307 0.634777 0.981474269486057 0 1.63072339882279e-19 FALSE 4.06081e-06 ENSE00001305900_032 ENSE00001305900 032 8 144400143 144400312 - 45 69 56 C T 144400254 3064 59 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTATACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318083 143318084 143318084 exon 3 0.0434782608695652 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTATACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 745 1219 0.893981812063254 1 0.946990906031627 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA -0.106018187936746 0.029727268443393 0.994835579178101 0.985136365778303 NA -0.0381454597466763 NA FALSE NA 0.232 -0.738 . splice_region_variant&synonymous_variant LOW TOP1MT HGNC 29787 ENST00000523676 10/15 rs369155454 1 T:0.0014 T:0 T:0 NA T:0.0069 T:0 T:0 T:0.0002 T:0 ACA C,T 0.0002636 8:143318084 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 splice_region_variant 0.560815 0.95218 0.04895 0.634777 0.930235189066952 0 1.63072339882279e-19 FALSE 0.000190863 ENSE00001305900_035 ENSE00001305900 035 8 144400143 144400312 - 45 69 56 G A 144400263 3067 50 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTTCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318092 143318093 143318093 upstr_intron -7 -0.107142857142857 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTTCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 990 107 1 1 1 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA 0 0.029727268443393 0.994835579178101 0.985136365778303 NA 0.0148636342216965 NA FALSE NA 0 -2.277 . splice_region_variant&intron_variant LOW TOP1MT HGNC 29787 ENST00000523676 9/14 1 NA GGA G,A 1.647e-05 8:143318093 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 splice_region_variant -0.426927 0.08257 0.00203 0.060467 0.874082441333339 0.0536195 1.63072339882279e-19 FALSE 8.12275e-06 ENSE00001305900_037 ENSE00001305900 037 8 144400143 144400312 - 45 69 56 G A 144400272 3069 41 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCTTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318101 143318102 143318102 upstr_intron -16 -0.267857142857143 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCTTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 152 112 0.978122313834778 1 0.989061156917389 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA -0.0218776861652223 0.029727268443393 0.994835579178101 0.985136365778303 NA 0.00392479113908534 NA FALSE NA 0.01 -0.074 . intron_variant MODIFIER TOP1MT HGNC 29787 ENST00000523676 9/14 1 NA AGG G,A 0.0001483 8:143318102 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 intron_variant -0.170047 0.13545 0.00655 0.056701 0.680246417202608 0.0540995 1.63072339882279e-19 FALSE 0.000129987 ENSE00001305900_038 ENSE00001305900 038 8 144400143 144400312 - 45 69 56 G A 144400273 3070 40 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTTCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318102 143318103 143318103 upstr_intron -17 -0.285714285714286 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTTCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 10 197 1 0.973950435639888 0.986975217819944 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA 0 0.0036777040832815 0.994835579178101 0.985136365778303 NA 0.00183885204164075 NA FALSE NA 0.002 -0.031 . intron_variant MODIFIER TOP1MT HGNC 29787 ENST00000523676 9/14 rs201990930 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 GGA G,A 9.884e-05 8:143318103 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 intron_variant -0.021563 0.10549 0.01149 0.056701 0.799046209185365 0.0540995 1.63072339882279e-19 FALSE 8.53111e-05 ENSE00001305900_039 ENSE00001305900 039 8 144400143 144400312 - 45 69 56 T G 144400278 3071 35 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGCAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC 143317972 143318142 143318107 143318108 143318108 upstr_intron -22 -0.375 GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGCAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC GTCCTCACTGGATTCGGGTTTTTTCTGTCCTCTGAAATTCCTTCTTTCTCCTTCAGGTGTACAAGAACTTACAGCTCTTTATGGAGAACAAGGACCCCCGGGACGACCTCTTCGACAGGCTGACCGTAAGCCGGCTCGTGTTTCCTCAGCAGTGGGCGGCGGCAGGACCC mutant NA NA NA NA NA 219 119 0.98933346098061 1 0.994666730490305 0.996404045742179 0.993267112614022 1 0.970272731556607 NA NA -0.0106665390193899 0.029727268443393 0.994835579178101 0.985136365778303 NA 0.00953036471200158 NA FALSE NA 0 -0.238 . intron_variant MODIFIER TOP1MT HGNC 29787 ENST00000523676 9/14 1 NA TTC T,G 8.237e-06 8:143318108 TOP1MT HGNC Symbol protein_coding 55595 ENSG00000184428 ENSE00003404135 intron_variant 0.021815 0.11193 0.01069 0.056701 0.431734860045454 0.0540995 1.63072339882279e-19 FALSE 4.06293e-06 ENSE00001306471_000 ENSE00001306471 000 17 79671615 79671784 + 48 84 38 NA NA NA NA NA CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 NA NA NA NA NA NA CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC natural 81 72 0.998737017090128 0.995840853518196 0.997288935304162 844 756 0.998823847797056 0.996253936470828 0.997538892133942 0.998737017090128 0.995840853518196 0.998823847797056 0.996253936470828 0 0 0 0 0.997288935304162 0.997538892133942 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MRPL12 NA NA NA ENSG00000262814 ENSE00003495385 NA NA NA NA NA NA NA 0.0501971389457513 FALSE NA ENSE00001306500_000 ENSE00001306500 000 12 64832970 64833139 + 54 72 44 NA NA NA NA NA TACTGTGATCTCTCGCCTACACAATGGTAAGAAATAGCTCTTACCTGAATTATTTCTGGAGCTACTTGCAAGGAGGGCAGGTATTCTTGTTGAAGATACTGAACACATTCTGGGCCCTGAAGATTAAAAGATACTTACAACTATTTTCTTGCTTGACATTAATAAGCTTA 64439189 64439359 NA NA NA NA NA NA TAAGCTTATTAATGTCAAGCAAGAAAATAGTTGTAAGTATCTTTTAATCTTCAGGGCCCAGAATGTGTTCAGTATCTTCAACAAGAATACCTGCCCTCCTTGCAAGTAGCTCCAGAAATAATTCAGGTAAGAGCTATTTCTTACCATTGTGTAGGCGAGAGATCACAGTA TAAGCTTATTAATGTCAAGCAAGAAAATAGTTGTAAGTATCTTTTAATCTTCAGGGCCCAGAATGTGTTCAGTATCTTCAACAAGAATACCTGCCCTCCTTGCAAGTAGCTCCAGAAATAATTCAGGTAAGAGCTATTTCTTACCATTGTGTAGGCGAGAGATCACAGTA natural NA NA NA NA NA 741 272 0.778254037923045 0.832526458909921 0.805390248416483 NA NA 0.778254037923045 0.832526458909921 NA NA 0 0 NA 0.805390248416483 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XPOT NA NA NA ENSG00000184575 ENSE00001306500 NA NA NA NA NA NA NA 0.997933923133681 TRUE NA ENSE00001306500_005 ENSE00001306500 005 12 64832970 64833139 + 54 72 44 G T 64832999 2404 30 TACTGTGATCTCTCGCCTACACAATGGTAAGAAATAGCTCTTACCTGAATTATTTCTGGAGCTACTTGCAAGGAGGGCAGGTATTCTTGTTGAAGATACTGAACACATTCTGGGCCCTGAAGATTAAAAGATACTTACAAATATTTTCTTGCTTGACATTAATAAGCTTA 64439189 64439359 64439218 64439219 64439219 upstr_intron -25 -0.444444444444444 TAAGCTTATTAATGTCAAGCAAGAAAATATTTGTAAGTATCTTTTAATCTTCAGGGCCCAGAATGTGTTCAGTATCTTCAACAAGAATACCTGCCCTCCTTGCAAGTAGCTCCAGAAATAATTCAGGTAAGAGCTATTTCTTACCATTGTGTAGGCGAGAGATCACAGTA TAAGCTTATTAATGTCAAGCAAGAAAATAGTTGTAAGTATCTTTTAATCTTCAGGGCCCAGAATGTGTTCAGTATCTTCAACAAGAATACCTGCCCTCCTTGCAAGTAGCTCCAGAAATAATTCAGGTAAGAGCTATTTCTTACCATTGTGTAGGCGAGAGATCACAGTA mutant 52 138 0.839386644308555 0.85 0.844693322154278 NA NA NA NA NA NA NA 0.778254037923045 0.832526458909921 NA NA NA NA NA 0.805390248416483 NA NA NA NA NA 0 -0.363 NA NA NA XPOT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:64439219 XPOT HGNC Symbol protein_coding 46777 ENSG00000184575 ENSE00001306500 intron_variant -0.116474 0.17336 0.04363 0.099367 0.500607421485744 0.0526402 0.997933923133681 TRUE 8.13372e-06 ENSE00001306500_013 ENSE00001306500 013 12 64832970 64833139 + 54 72 44 G A 64833041 2412 72 TACTGTGATCTCTCGCCTACACAATGGTAAGAAATAGCTCTTACCTGAATTATTTCTGGAGCTACTTGCAAGGAGGGCAGGTATTCTTGTTGAAGATATTGAACACATTCTGGGCCCTGAAGATTAAAAGATACTTACAACTATTTTCTTGCTTGACATTAATAAGCTTA 64439189 64439359 64439260 64439261 64439261 exon 18 0.25 TAAGCTTATTAATGTCAAGCAAGAAAATAGTTGTAAGTATCTTTTAATCTTCAGGGCCCAGAATGTGTTCAATATCTTCAACAAGAATACCTGCCCTCCTTGCAAGTAGCTCCAGAAATAATTCAGGTAAGAGCTATTTCTTACCATTGTGTAGGCGAGAGATCACAGTA TAAGCTTATTAATGTCAAGCAAGAAAATAGTTGTAAGTATCTTTTAATCTTCAGGGCCCAGAATGTGTTCAGTATCTTCAACAAGAATACCTGCCCTCCTTGCAAGTAGCTCCAGAAATAATTCAGGTAAGAGCTATTTCTTACCATTGTGTAGGCGAGAGATCACAGTA mutant 169 242 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.778254037923045 0.832526458909921 NA NA NA NA NA 0.805390248416483 NA NA NA NA NA 1 1.512 . synonymous_variant LOW XPOT HGNC 12826 ENST00000332707 23/25 1 NA AGT G,A 8.236e-06 12:64439261 XPOT HGNC Symbol protein_coding 46777 ENSG00000184575 ENSE00001306500 synonymous_variant 0.882632 0.97927 0.94417 0.562547 0.767030602103826 0 0.997933923133681 TRUE 4.06345e-06 ENSE00001306820_000 ENSE00001306820 000 4 3416435 3416604 + 44 93 33 NA NA NA NA NA GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTAGGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGCACATGACAAAAAGGAGGTAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG 3414707 3414877 NA NA NA NA NA NA GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTAGGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGCACATGACAAAAAGGAGGTAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTAGGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGCACATGACAAAAAGGAGGTAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG natural 89 130 0.998661429573796 0.99598226879147 0.997321849182633 4785 2935 0.971664950858176 0.998326757449769 0.984995854153972 0.998661429573796 0.99598226879147 0.971664950858176 0.998326757449769 0 0 0 0 0.997321849182633 0.984995854153972 0 0 0 FALSE FALSE NA NA NA NA NA RGS12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS12 NA NA NA ENSG00000159788 ENSE00003649697 NA NA NA NA NA NA NA 0.00056037428714452 FALSE NA ENSE00001306820_013 ENSE00001306820 013 4 3416435 3416604 + 44 93 33 C T 3416555 183 121 GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTAGGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGTACATGACAAAAAGGAGGTAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG 3414707 3414877 3414827 3414828 3414828 exon -17 0.827956989247312 GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTAGGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGTACATGACAAAAAGGAGGTAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTAGGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGCACATGACAAAAAGGAGGTAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG mutant NA NA NA NA NA 184 115 0.990473075844633 1 0.995236537922317 0.998661429573796 0.99598226879147 0.971664950858176 0.998326757449769 NA NA 0.0188081249864573 0.00167324255023149 0.997321849182633 0.984995854153972 NA 0.0102406837683444 NA FALSE NA 0.938 1.677 . missense_variant MODERATE RGS12 HGNC 9994 ENST00000538395 3/13 1 benign(0.041) NA GCA C,T 8.236e-06 4:3414828 RGS12 HGNC Symbol protein_coding 146885 ENSG00000159788 ENSE00003649697 missense_variant 4.788642 0.97245 0.85435 0.695654 0.996472694261144 0 0.00056037428714452 FALSE 4.06171e-06 ENSE00001306820_BRK ENSE00001306820 BRK 4 3416435 3416604 + 44 93 33 A,G; T,T NA NA NA GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTTTGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGCACATGACAAAAAGGAGCCAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG 3414707 3414877 NA NA NA NA NA NA GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTTTGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGCACATGACAAAAAGGAGCCAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG GACCCTGTGTCAGTGTTAATAAATGGTGTCTTTGTCTTTCTTAGGATTTTCTAAGGAAAGAATTCAGTGAAGAAAACATTTTATTCTGGCAGGCCTGTGAATATTTTAATCATGTTCCTGCACATGACAAAAAGGAGGTAAGTCCACGCTTGGGAAGTGGGGGCTGTGTG control 535 278 0 0 0 NA NA NA NA NA 0.998661429573796 0.99598226879147 0.971664950858176 0.998326757449769 -0.998661429573796 -0.99598226879147 NA NA 0.997321849182633 0.984995854153972 -0.997321849182633 NA NA NA TRUE NA NA NA NA NA RGS12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS12 NA NA NA ENSG00000159788 ENSE00003649697 NA NA NA NA NA NA NA 0.00056037428714452 FALSE NA ENSE00001307316_000 ENSE00001307316 000 20 58574590 58574759 + 51 78 41 NA NA NA NA NA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA 59999534 59999704 NA NA NA NA NA NA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA natural NA NA NA NA NA 2838 1740 0.991467130297813 0.993035268734323 0.992251199516068 NA NA 0.991467130297813 0.993035268734323 NA NA 0 0 NA 0.992251199516068 NA 0 NA FALSE NA NA NA NA NA NA CDH26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDH26 NA NA NA ENSG00000124215 ENSE00003660929 NA NA NA NA NA NA NA 5.55635014833331e-23 FALSE NA ENSE00001307316_001 ENSE00001307316 001 20 58574590 58574759 + 51 78 41 T G 58574612 1849 23 TGCTATCTGTGATTTCAGCCCTGGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA 59999534 59999704 59999556 59999557 59999557 upstr_intron -29 -0.549019607843137 TGCTATCTGTGATTTCAGCCCTGGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA mutant NA NA NA NA NA 916 912 0.937553470524233 0.999623553588303 0.968588512056268 NA NA 0.991467130297813 0.993035268734323 NA NA -0.0539136597735804 0.00658828485397955 NA 0.992251199516068 NA -0.0236626874598004 NA FALSE NA 0 -0.146 . intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 1/4 1 NA TTG T,G 1.647e-05 20:59999557 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003660929 intron_variant -0.061687 0.14477 0.03094 0.053691 0.70045755098688 0.0448725 5.55635014833331e-23 FALSE 1.23597e-05 ENSE00001307316_004 ENSE00001307316 004 20 58574590 58574759 + 51 78 41 A G 58574637 1852 48 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTGCAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA 59999534 59999704 59999581 59999582 59999582 upstr_intron -4 -0.0588235294117647 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTGCAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA mutant NA NA NA NA NA 867 349 0.995551394489938 1 0.997775697244969 NA NA 0.991467130297813 0.993035268734323 NA NA 0.00408426419212449 0.00696473126567698 NA 0.992251199516068 NA 0.00552449772890073 NA FALSE NA 0.017 0.578 . splice_region_variant&intron_variant LOW CDH26 HGNC 15902 ENST00000456106 1/4 1 NA TAC A,G 8.236e-06 20:59999582 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003660929 splice_region_variant -0.318383 0.12612 0.03873 0.074636 0.391365844019223 0.0448725 5.55635014833331e-23 FALSE 4.06673e-06 ENSE00001307316_010 ENSE00001307316 010 20 58574590 58574759 + 51 78 41 C T 58574669 1858 80 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCTGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA 59999534 59999704 59999613 59999614 59999614 exon 29 0.371794871794872 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCTGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA mutant NA NA NA NA NA 99 160 0.899398080212276 1 0.949699040106138 NA NA 0.991467130297813 0.993035268734323 NA NA -0.0920690500855376 0.00696473126567698 NA 0.992251199516068 NA -0.0425521594099303 NA FALSE NA 0 -0.704 . missense_variant MODERATE CDH26 HGNC 15902 ENST00000456106 2/5 rs374871304 1 tolerated_low_confidence(0.33) benign(0.004) NA T:0 T:0.0001 CCG C,T 7.413e-05 20:59999614 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003660929 missense_variant 0.54524 0.1128 0.01161 0.615465 0.312376560580013 0 5.55635014833331e-23 FALSE 5.68828e-05 ENSE00001307316_013 ENSE00001307316 013 20 58574590 58574759 + 51 78 41 T C 58574675 1861 86 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCCGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA 59999534 59999704 59999619 59999620 59999620 exon 35 0.448717948717949 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCCGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA mutant NA NA NA NA NA 106 738 1 0.999948416028732 0.999974208014366 NA NA 0.991467130297813 0.993035268734323 NA NA 0.0085328697021867 0.00691314729440851 NA 0.992251199516068 NA 0.0077230084982976 NA FALSE NA 0 -1.094 . missense_variant MODERATE CDH26 HGNC 15902 ENST00000456106 2/5 1 tolerated_low_confidence(0.15) probably_damaging(0.991) NA CTG T,C 8.236e-06 20:59999620 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003660929 missense_variant 0.176925 0.07681 0.006 0.553676 0.592982092431947 0 5.55635014833331e-23 FALSE 4.06207e-06 ENSE00001307316_015 ENSE00001307316 015 20 58574590 58574759 + 51 78 41 C T 58574705 1863 116 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCATGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA 59999534 59999704 59999649 59999650 59999650 exon -14 0.833333333333333 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCATGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA mutant NA NA NA NA NA 101 199 1 1 1 NA NA 0.991467130297813 0.993035268734323 NA NA 0.0085328697021867 0.00696473126567698 NA 0.992251199516068 NA 0.00774880048393184 NA FALSE NA 0 -2.001 . missense_variant MODERATE CDH26 HGNC 15902 ENST00000456106 2/5 rs367650551 1 deleterious_low_confidence(0.03) possibly_damaging(0.796) NA T:0.0005 T:0.0001 ACG C,T 6.589e-05 20:59999650 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003660929 missense_variant -1.095854 0.08777 0.00438 0.553676 0.5376698146016 0 5.55635014833331e-23 FALSE 4.87607e-05 ENSE00001307316_016 ENSE00001307316 016 20 58574590 58574759 + 51 78 41 A G 58574721 1864 132 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTGACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA 59999534 59999704 59999665 59999666 59999666 downstr_intron 3 1.075 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTGACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA mutant NA NA NA NA NA 32 66 1 1 1 NA NA 0.991467130297813 0.993035268734323 NA NA 0.0085328697021867 0.00696473126567698 NA 0.992251199516068 NA 0.00774880048393184 NA FALSE NA 0.002 0.015 . splice_region_variant&intron_variant LOW CDH26 HGNC 15902 ENST00000456106 2/4 1 NA TAA A,G 8.236e-05 20:59999666 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003660929 splice_region_variant 0.047106 0.14597 0.01451 0.078448 0.413910684151541 0.172088 5.55635014833331e-23 FALSE 6.1181e-05 ENSE00001307316_017 ENSE00001307316 017 20 58574590 58574759 + 51 78 41 T C 58574740 1865 151 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTCCTGGATTTCAGAGAAGTGA 59999534 59999704 59999684 59999685 59999685 downstr_intron 22 1.55 TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTCCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA mutant NA NA NA NA NA 479 30 0.994190553711517 1 0.997095276855759 NA NA 0.991467130297813 0.993035268734323 NA NA 0.0027234234137038 0.00696473126567698 NA 0.992251199516068 NA 0.00484407733969039 NA FALSE NA 0 -0.303 . intron_variant MODIFIER CDH26 HGNC 15902 ENST00000456106 2/4 rs537127740 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTC T,C 3.295e-05 20:59999685 CDH26 HGNC Symbol protein_coding 75584 ENSG00000124215 ENSE00003660929 intron_variant -0.136693 0.12419 0.00941 0.078448 0.536751701852465 0.0443127 5.55635014833331e-23 FALSE 2.44298e-05 ENSE00001307316_BRK ENSE00001307316 BRK 20 58574590 58574759 + 51 78 41 A,G; T,T NA NA NA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACTTACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGCCAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA 59999534 59999704 NA NA NA NA NA NA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACTTACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGCCAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA TGCTATCTGTGATTTCAGCCCTTGTCATATTTCTTTCTCTGTGTTCTACAGACATGGTCAGATGTTGAAGGCCAGAGGCCGGCTCTGCTCATCTGCACAGCTGCAGCAGGACCCACGCAGGGAGTTAAGGTAACATGCCCCTTACTTGCTTCTGGATTTCAGAGAAGTGA control 17 78 0 0.112784966172971 0.0563924830864854 NA NA NA NA NA NA NA 0.991467130297813 0.993035268734323 NA NA NA NA NA 0.992251199516068 NA NA NA NA NA NA NA NA NA NA CDH26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDH26 NA NA NA ENSG00000124215 ENSE00003660929 NA NA NA NA NA NA NA 5.55635014833331e-23 FALSE NA ENSE00001307627_000 ENSE00001307627 000 22 50854464 50854633 + 57 66 47 NA NA NA NA NA CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 NA NA NA NA NA NA CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC natural 40 13 0.974891432217329 0.98079369599533 0.977842564106329 389 716 0.999605836349894 0.996159788203858 0.997882812276876 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 0 0 0 0 0.977842564106329 0.997882812276876 0 0 0 FALSE FALSE NA NA NA NA NA PPP6R2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP6R2 NA NA NA ENSG00000100239 ENSE00001307627 NA NA NA NA NA NA NA 0.718789474101901 FALSE NA ENSE00001307627_002 ENSE00001307627 002 22 50854464 50854633 + 57 66 47 T C 50854482 1492 19 CCTGTTGTTTACTTAGACCTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416052 50416053 50416053 upstr_intron -39 -0.666666666666667 CCTGTTGTTTACTTAGACCTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 160 327 1 1 1 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA 0.000394163650106472 0.0038402117961418 0.977842564106329 0.997882812276876 NA 0.00211718772312414 NA FALSE NA 0 -0.872 . intron_variant MODIFIER PPP6R2 HGNC 19253 ENST00000395741 5/22 1 NA CTT T,C 3.295e-05 22:50416053 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant -0.361058 0.09526 0.00898 0.156188 0.227305601882618 0.0534718 0.718789474101901 FALSE 1.62528e-05 ENSE00001307627_003 ENSE00001307627 003 22 50854464 50854633 + 57 66 47 G A 50854486 1493 23 CCTGTTGTTTACTTAGACTTGAACAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416056 50416057 50416057 upstr_intron -35 -0.596491228070175 CCTGTTGTTTACTTAGACTTGAACAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 740 273 1 0.964201901726657 0.982100950863328 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA 0.000394163650106472 -0.0319578864772013 0.977842564106329 0.997882812276876 NA -0.0157818614135474 NA FALSE NA 0.008 -0.201 . intron_variant MODIFIER PPP6R2 HGNC 19253 ENST00000395741 5/22 rs377460850 1 NA A:0.0002 A:0 AGC G,A 2.471e-05 22:50416057 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant -0.108479 0.08139 0.01891 0.156188 0.519284175954765 0.0534718 0.718789474101901 FALSE 1.62517e-05 ENSE00001307627_004 ENSE00001307627 004 22 50854464 50854633 + 57 66 47 A G 50854488 1494 25 CCTGTTGTTTACTTAGACTTGAGCGGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416058 50416059 50416059 upstr_intron -33 -0.56140350877193 CCTGTTGTTTACTTAGACTTGAGCGGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 1438 428 0.998722532857759 0.999630306229203 0.999176419543481 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.000883303492134391 0.00347051802534493 0.977842564106329 0.997882812276876 NA 0.00129360726660527 NA FALSE NA 0.008 0.082 . intron_variant MODIFIER PPP6R2 HGNC 19253 ENST00000395741 5/22 rs370327885 1 NA G:0.0002 G:0 CAG A,G 8.237e-06 22:50416059 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant 0.026683 0.13437 0.0714 0.156188 0.520288086914754 0.0534718 0.718789474101901 FALSE 4.0626e-06 ENSE00001307627_007 ENSE00001307627 007 22 50854464 50854633 + 57 66 47 G T 50854501 1497 38 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAATGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416071 50416072 50416072 upstr_intron -20 -0.333333333333333 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAATGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 773 212 0.996927624339829 1 0.998463812169915 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.00267821201006457 0.0038402117961418 0.977842564106329 0.997882812276876 NA 0.000580999893038614 NA FALSE NA 0 1.147 rs141059010 intron_variant MODIFIER PPP6R2 HGNC 19253 ENST00000395741 5/22 rs141059010 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 A:0.0002 A:0 AGG G,T 8.236e-06 22:50416072 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant 0.288973 0.25235 0.02888 0.156188 0.686897988385664 0.0534718 0.718789474101901 FALSE 4.06121e-06 ENSE00001307627_009 ENSE00001307627 009 22 50854464 50854633 + 57 66 47 C A 50854503 1499 40 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGACTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416073 50416074 50416074 upstr_intron -18 -0.298245614035088 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGACTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 1484 1343 1 0.999971657915804 0.999985828957902 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA 0.000394163650106472 0.00381186971194536 0.977842564106329 0.997882812276876 NA 0.00210301668102592 NA FALSE NA 0 0.263 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:50416074 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant 0.845101 0.25704 0.03795 0.156188 0.728009580224387 0.0534718 0.718789474101901 FALSE 4.06118e-06 ENSE00001307627_010 ENSE00001307627 010 22 50854464 50854633 + 57 66 47 C G 50854503 1500 40 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGGCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416073 50416074 50416074 upstr_intron -18 -0.298245614035088 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGGCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 1196 499 0.996490193584361 0.978649189692125 0.987569691638243 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.00311564276553267 -0.0175105985117332 0.977842564106329 0.997882812276876 NA -0.0103131206386329 NA FALSE NA 0 0.263 NA NA NA PPP6R2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP6R2 NA NA NA ENSG00000100239 ENSE00001307627 intron_variant 0.684721 0.26489 0.1655 0.156188 0.706964234955775 0.0534718 0.718789474101901 FALSE 4.06118e-06 ENSE00001307627_013 ENSE00001307627 013 22 50854464 50854633 + 57 66 47 A G 50854527 1503 64 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGGATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416097 50416098 50416098 exon 7 0.106060606060606 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGGATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 83 605 1 0.998403831559028 0.999201915779514 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA 0.000394163650106472 0.00224404335516981 0.977842564106329 0.997882812276876 NA 0.00131910350263814 NA FALSE NA 1 5.765 . missense_variant MODERATE PPP6R2 HGNC 19253 ENST00000395741 6/23 1 deleterious(0.03) benign(0.105) NA GAA A,G 4.118e-05 22:50416098 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 missense_variant 1.976831 0.97964 0.98382 0.706548 0.988888953403089 0 0.718789474101901 FALSE 7.71555e-05 ENSE00001307627_014 ENSE00001307627 014 22 50854464 50854633 + 57 66 47 A G 50854528 1504 65 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAGTGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416098 50416099 50416099 exon 8 0.121212121212121 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAGTGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 1848 316 1 0.999499188705037 0.999749594352519 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA 0.000394163650106472 0.0033394005011792 0.977842564106329 0.997882812276876 NA 0.00186678207564284 NA FALSE NA 1 6.911 . missense_variant MODERATE PPP6R2 HGNC 19253 ENST00000395741 6/23 1 deleterious(0.02) benign(0.331) NA AAT A,G 8.236e-06 22:50416099 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 missense_variant 3.615854 0.99096 0.99186 0.706548 0.998690578158044 0 0.718789474101901 FALSE 4.06078e-06 ENSE00001307627_016 ENSE00001307627 016 22 50854464 50854633 + 57 66 47 T C 50854540 1506 77 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGCCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416110 50416111 50416111 exon 20 0.303030303030303 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGCCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 1104 246 0.996197118045142 1 0.998098559022571 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.00340871830475198 0.0038402117961418 0.977842564106329 0.997882812276876 NA 0.000215746745694911 NA FALSE NA 0.973 4.707 . missense_variant MODERATE PPP6R2 HGNC 19253 ENST00000395741 6/23 1 deleterious(0.01) benign(0.209) NA GTC T,C 8.236e-06 22:50416111 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 missense_variant 3.276379 0.98216 0.97101 0.706548 0.992527630783346 0 0.718789474101901 FALSE 8.12143e-06 ENSE00001307627_017 ENSE00001307627 017 22 50854464 50854633 + 57 66 47 G C 50854549 1507 86 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGACGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416119 50416120 50416120 exon 29 0.439393939393939 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGACGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 328 851 0.998611622168504 1 0.999305811084252 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.000994214181389785 0.0038402117961418 0.977842564106329 0.997882812276876 NA 0.00142299880737601 NA FALSE NA 1 6.202 . missense_variant MODERATE PPP6R2 HGNC 19253 ENST00000395741 6/23 1 deleterious(0) possibly_damaging(0.894) NA AGG G,C 8.236e-06 22:50416120 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 missense_variant 5.659085 0.9934 0.9927 0.706548 0.985233916983002 0 0.718789474101901 FALSE 4.06101e-06 ENSE00001307627_018 ENSE00001307627 018 22 50854464 50854633 + 57 66 47 G A 50854550 1508 87 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGACTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416120 50416121 50416121 exon 30 0.454545454545455 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGACTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 1431 1263 1 1 1 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA 0.000394163650106472 0.0038402117961418 0.977842564106329 0.997882812276876 NA 0.00211718772312414 NA FALSE NA 0.979 0.235 . synonymous_variant LOW PPP6R2 HGNC 19253 ENST00000395741 6/23 1 NA GGC G,A 4.118e-05 22:50416121 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 synonymous_variant 1.072631 0.88837 0.38737 0.706548 0.572216103369795 0 0.718789474101901 FALSE 3.24889e-05 ENSE00001307627_019 ENSE00001307627 019 22 50854464 50854633 + 57 66 47 G A 50854571 1509 108 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCAAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416141 50416142 50416142 exon -16 0.772727272727273 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCAAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 49 1179 1 1 1 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA 0.000394163650106472 0.0038402117961418 0.977842564106329 0.997882812276876 NA 0.00211718772312414 NA FALSE NA 0 -5.366 . synonymous_variant LOW PPP6R2 HGNC 19253 ENST00000395741 6/23 1 NA CGA G,A 4.118e-05 22:50416142 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 synonymous_variant 0.425867 0.09606 0.0261 0.706548 0.366369096178855 0 0.718789474101901 FALSE 0.000109673 ENSE00001307627_020 ENSE00001307627 020 22 50854464 50854633 + 57 66 47 G A 50854578 1510 115 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGAATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416148 50416149 50416149 exon -9 0.878787878787879 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGAATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 128 116 0.942720914905921 0.958427658356858 0.95057428663139 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.0568849214439724 -0.0377321298469999 0.977842564106329 0.997882812276876 NA -0.0473085256454862 NA FALSE NA 1 9.21 . missense_variant MODERATE PPP6R2 HGNC 19253 ENST00000395741 6/23 1 deleterious(0) probably_damaging(0.925) NA GGA G,A 8.236e-06 22:50416149 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 missense_variant 6.154563 0.99307 0.99481 0.706548 0.999009892187773 0 0.718789474101901 FALSE 4.06128e-06 ENSE00001307627_024 ENSE00001307627 024 22 50854464 50854633 + 57 66 47 C T 50854604 1514 141 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACTGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416174 50416175 50416175 downstr_intron 18 1.39130434782609 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACTGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 682 93 0.98938573541983 1 0.994692867709915 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.0102201009300632 0.0038402117961418 0.977842564106329 0.997882812276876 NA -0.0031899445669607 NA FALSE NA 0 -0.762 rs144767280 intron_variant MODIFIER PPP6R2 HGNC 19253 ENST00000395741 6/22 rs144767280 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0016 T:0 CCG C,T 0.0001647 22:50416175 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant -0.098826 0.10975 0.03007 0.099367 0.371400425854306 0.123372 0.718789474101901 FALSE 0.000190968 ENSE00001307627_025 ENSE00001307627 025 22 50854464 50854633 + 57 66 47 G A 50854607 1515 144 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAACTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416177 50416178 50416178 downstr_intron 21 1.45652173913043 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAACTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 536 189 0.649317779209651 0.775541088417196 0.712429433813423 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.350288057140243 -0.220618699786662 0.977842564106329 0.997882812276876 NA -0.285453378463452 NA FALSE NA 0 -0.275 . intron_variant MODIFIER PPP6R2 HGNC 19253 ENST00000395741 6/22 1 NA AGC G,A 8.236e-06 22:50416178 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant 0.048533 0.11713 0.01896 0.099367 0.686150798944048 0.123372 0.718789474101901 FALSE 4.06332e-06 ENSE00001307627_028 ENSE00001307627 028 22 50854464 50854633 + 57 66 47 T C 50854613 1518 150 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGCGCATCAGTCCAGGCCTGTGC 50416034 50416204 50416183 50416184 50416184 downstr_intron 27 1.58695652173913 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGCGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 142 400 1 0.997879019524721 0.99893950976236 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA 0.000394163650106472 0.0017192313208626 0.977842564106329 0.997882812276876 NA 0.00105669748548454 NA FALSE NA 0 1.011 . intron_variant MODIFIER PPP6R2 HGNC 19253 ENST00000395741 6/22 rs202159048 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 C:0 C:0.0002 GTG T,C 0.001763 22:50416184 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant 0.050033 0.1221 0.02893 0.099367 0.595742752989469 0.0715842 0.718789474101901 FALSE 0.00167007 ENSE00001307627_029 ENSE00001307627 029 22 50854464 50854633 + 57 66 47 A G 50854616 1519 153 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCGTCAGTCCAGGCCTGTGC 50416034 50416204 50416186 50416187 50416187 downstr_intron 30 1.65217391304348 CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCGTCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC mutant NA NA NA NA NA 1013 714 0.998787593482298 0.999778434258712 0.999283013870505 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.000818242867595464 0.00361864605485351 0.977842564106329 0.997882812276876 NA 0.00140020159362902 NA FALSE NA 0 0.029 . intron_variant MODIFIER PPP6R2 HGNC 19253 ENST00000395741 6/22 1 NA CAT A,G 8.236e-06 22:50416187 PPP6R2 HGNC Symbol protein_coding 101786 ENSG00000100239 ENSE00001307627 intron_variant -0.066141 0.0978 0.02909 0.099367 0.362032914391064 0.046875 0.718789474101901 FALSE 4.06415e-06 ENSE00001307627_BRK ENSE00001307627 BRK 22 50854464 50854633 + 57 66 47 A,G; T,T NA NA NA CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCTTTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATCCGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC 50416034 50416204 NA NA NA NA NA NA CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCTTTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATCCGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC CCTGTTGTTTACTTAGACTTGAGCAGCGACACTGAAAGGCCTCTTTTTCTCTTTCAGTGGCTGAATGAAGAGAAGGTCATCCAGAGGCTTGTGGAGTTGATCCACCCGAGCCAGGATGAAGATGTGAGTGTGCTGCTTACCGAGCTTCGTGCATCAGTCCAGGCCTGTGC control NA NA NA NA NA 933 1397 0 0.000361880031956893 0.000180940015978446 0.974891432217329 0.98079369599533 0.999605836349894 0.996159788203858 NA NA -0.999605836349894 -0.995797908171901 0.977842564106329 0.997882812276876 NA -0.997701872260897 NA TRUE NA NA NA NA NA NA PPP6R2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP6R2 NA NA NA ENSG00000100239 ENSE00001307627 NA NA NA NA NA NA NA 0.718789474101901 FALSE NA ENSE00001307685_000 ENSE00001307685 000 12 111330827 111330996 + 53 75 42 NA NA NA NA NA AACAGAAGCTCCCGCATCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 NA NA NA NA NA NA AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT natural 50 38 0.976064324633828 0.998638608677396 0.987351466655612 481 1518 0.986008562328544 0.941221669024217 0.96361511567638 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 0 0 0 0 0.987351466655612 0.96361511567638 0 0 0 FALSE FALSE NA NA NA NA NA CCDC63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC63 NA NA NA ENSG00000173093 ENSE00001307685 NA NA NA NA NA NA NA 4.48038323358414e-10 FALSE NA ENSE00001307685_004 ENSE00001307685 004 12 111330827 111330996 + 53 75 42 C T 111330855 3243 29 AGTGGGGAGGGAAGAGCCCACTTTTCCTTATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT 110893022 110893192 110893050 110893051 110893051 upstr_intron -25 -0.452830188679245 AGTGGGGAGGGAAGAGCCCACTTTTCCTTATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 134 78 1 1 1 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0363848843236199 NA FALSE NA 0 -0.507 . intron_variant MODIFIER CCDC63 HGNC 26669 ENST00000308208 8/11 1 NA TCA C,T 4.118e-05 12:110893051 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 intron_variant 0.394211 0.1729 0.02216 0.074388 0.798191772364661 0.156545 4.48038323358414e-10 FALSE 2.86709e-05 ENSE00001307685_007 ENSE00001307685 007 12 111330827 111330996 + 53 75 42 C T 111330873 3246 47 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCTGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT 110893022 110893192 110893068 110893069 110893069 upstr_intron -7 -0.113207547169811 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCTGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 47 315 1 1 1 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0363848843236199 NA FALSE NA 0 -1.972 . splice_region_variant&intron_variant LOW CCDC63 HGNC 26669 ENST00000308208 8/11 rs201866199 1 NA CCG C,T 2.471e-05 12:110893069 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 splice_region_variant 0.22457 0.14476 0.01368 0.074388 0.716527641430756 0.16108 4.48038323358414e-10 FALSE 2.03386e-05 ENSE00001307685_008 ENSE00001307685 008 12 111330827 111330996 + 53 75 42 C T 111330877 3247 51 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGTAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT 110893022 110893192 110893072 110893073 110893073 upstr_intron -3 -0.0377358490566038 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGTAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 16 55 1 1 1 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0363848843236199 NA FALSE NA 0.79 1.482 . splice_region_variant&intron_variant LOW CCDC63 HGNC 26669 ENST00000308208 8/11 1 NA GCA C,T 8.236e-06 12:110893073 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 splice_region_variant 0.833553 0.86293 0.43297 0.074388 0.58328981126077 0.305582 4.48038323358414e-10 FALSE 4.06686e-06 ENSE00001307685_009 ENSE00001307685 009 12 111330827 111330996 + 53 75 42 C A 111330882 3248 56 AACAGAAGCTCCCGCATCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTCTTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893077 110893078 110893078 exon 3 0.04 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGAAGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 372 212 1 1 1 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0363848843236199 NA FALSE NA 0.767 -1.006 NA NA NA CCDC63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:110893078 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 missense_variant 0.14728 0.43686 0.15913 0.57788 0.697549481105792 0 4.48038323358414e-10 FALSE 3.25201e-05 ENSE00001307685_011 ENSE00001307685 011 12 111330827 111330996 + 53 75 42 G A 111330883 3250 57 AACAGAAGCTCCCGCATCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTTGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893078 110893079 110893079 exon 4 0.0533333333333333 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACAAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 207 35 0.942066886710995 0.995454207152136 0.968760546931566 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA -0.0439416756175485 0.0542325381279197 0.987351466655612 0.96361511567638 NA 0.00514543125518563 NA FALSE NA 1 3.187 rs143128187 missense_variant MODERATE CCDC63 HGNC 26669 ENST00000308208 9/12 rs143128187&COSM107359 1 tolerated(0.06) probably_damaging(0.909) NA CGA G,A 1.647e-05 12:110893079 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 missense_variant 6.107935 0.93646 0.75982 0.57788 0.997869841764984 0 4.48038323358414e-10 FALSE 8.12856e-06 ENSE00001307685_012 ENSE00001307685 012 12 111330827 111330996 + 53 75 42 C A 111330888 3251 62 AACAGAAGCTCCCGCATCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATTATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893083 110893084 110893084 exon 9 0.12 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATAATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 679 49 1 0.999219529023228 0.999609764511614 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0579978599990109 0.987351466655612 0.96361511567638 NA 0.0359946488352337 NA FALSE NA 0.552 0.919 . synonymous_variant LOW CCDC63 HGNC 26669 ENST00000308208 9/12 rs377591704 1 NA A:0.0002 A:0 TCA C,A 8.236e-06 12:110893084 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 synonymous_variant 1.692758 0.8263 0.44263 0.57788 0.608046967779414 0 4.48038323358414e-10 FALSE 4.06388e-06 ENSE00001307685_014 ENSE00001307685 014 12 111330827 111330996 + 53 75 42 C T 111330894 3253 68 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTTTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT 110893022 110893192 110893089 110893090 110893090 exon 15 0.2 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTTTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 45 99 1 1 1 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0363848843236199 NA FALSE NA 0 -0.106 . synonymous_variant LOW CCDC63 HGNC 26669 ENST00000308208 9/12 1 NA TCT C,T 8.236e-06 12:110893090 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 synonymous_variant 0.514144 0.1617 0.03652 0.57788 0.663447472423299 0 4.48038323358414e-10 FALSE 4.06332e-06 ENSE00001307685_016 ENSE00001307685 016 12 111330827 111330996 + 53 75 42 G A 111330899 3255 73 AACAGAAGCTCCCGCATCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATTGCAAGAGGATGATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893094 110893095 110893095 exon 20 0.266666666666667 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCAATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 313 129 1 1 1 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0363848843236199 NA FALSE NA 0.005 -0.251 . missense_variant MODERATE CCDC63 HGNC 26669 ENST00000308208 9/12 COSM935024 1 tolerated(0.29) benign(0.1) NA CGA G,A 8.236e-06 12:110893095 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 missense_variant 2.211572 0.83789 0.11083 0.497415 0.956470732287012 0 4.48038323358414e-10 FALSE 1.21901e-05 ENSE00001307685_018 ENSE00001307685 018 12 111330827 111330996 + 53 75 42 A G 111330912 3257 86 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAGTTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT 110893022 110893192 110893107 110893108 110893108 exon 33 0.44 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAGTTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant 30 51 0 0 0 NA NA NA NA NA 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 -0.976064324633828 -0.998638608677396 NA NA 0.987351466655612 0.96361511567638 -0.987351466655612 NA NA NA TRUE 0 -1.196 . synonymous_variant LOW CCDC63 HGNC 26669 ENST00000308208 9/12 1 NA AAT A,G 4.118e-05 12:110893108 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 synonymous_variant -0.49055 0.1757 0.02036 0.497415 0.377889819662659 0 4.48038323358414e-10 FALSE NA ENSE00001307685_020 ENSE00001307685 020 12 111330827 111330996 + 53 75 42 G A 111330922 3259 96 AACAGAAGCTCCCGCATCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATTGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893117 110893118 110893118 exon -33 0.573333333333333 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACAATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 90 555 1 0.998895263881532 0.999447631940766 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0576735948573149 0.987351466655612 0.96361511567638 NA 0.0358325162643857 NA FALSE NA 0.076 2.271 rs113767208 missense_variant MODERATE CCDC63 HGNC 26669 ENST00000308208 9/12 rs113767208 1 tolerated(0.1) possibly_damaging(0.814) A:0.0138 A:0.0499 A:0.0029 NA A:0 A:0.001 A:0 A:0.0479 A:0.0001 CGA G,A 0.004637 12:110893118 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 missense_variant 3.423724 0.28589 0.18591 0.616025 0.988204896562986 0 4.48038323358414e-10 FALSE 0.00384368 ENSE00001307685_021 ENSE00001307685 021 12 111330827 111330996 + 53 75 42 C T 111330933 3260 107 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCATTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT 110893022 110893192 110893128 110893129 110893129 exon -22 0.72 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCATTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 36 271 1 0.999415963899107 0.999707981949553 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0581942948748903 0.987351466655612 0.96361511567638 NA 0.0360928662731734 NA FALSE NA 0 0.069 . synonymous_variant LOW CCDC63 HGNC 26669 ENST00000308208 9/12 1 NA ACT C,T 8.236e-06 12:110893129 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 synonymous_variant 0.352788 0.19359 0.03264 0.616025 0.528967969639348 0 4.48038323358414e-10 FALSE 4.06329e-06 ENSE00001307685_023 ENSE00001307685 023 12 111330827 111330996 + 53 75 42 A G 111330947 3262 121 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACGGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT 110893022 110893192 110893142 110893143 110893143 exon -8 0.906666666666667 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACGGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant 32 21 0.906072288864437 0.85 0.878036144432218 1397 198 0.927463225820904 0.980331259749187 0.953897242785046 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 -0.0699920357693912 -0.148638608677396 -0.058545336507639 0.0391095907249706 0.987351466655612 0.96361511567638 -0.109315322223394 -0.00971787289133424 0.0995974493320594 FALSE FALSE 0.035 2.087 . missense_variant MODERATE CCDC63 HGNC 26669 ENST00000308208 9/12 1 deleterious(0) benign(0.299) NA CAG A,G 8.236e-06 12:110893143 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 missense_variant 0.290678 0.23283 0.11637 0.616025 0.899569241799762 0 4.48038323358414e-10 FALSE 4.06729e-06 ENSE00001307685_025 ENSE00001307685 025 12 111330827 111330996 + 53 75 42 G A 111330969 3264 143 AACAGAAGCTCCCGCATCCCTCCCTCCTGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893164 110893165 110893165 downstr_intron 15 1.36585365853659 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCAGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 240 282 0.99151783111337 1 0.995758915556685 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0055092687848266 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.032143799880305 NA FALSE NA 0 -2.571 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:110893165 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 intron_variant 0.145341 0.16604 0.0345 0.087844 0.868636538307011 0.108658 4.48038323358414e-10 FALSE 1.22466e-05 ENSE00001307685_026 ENSE00001307685 026 12 111330827 111330996 + 53 75 42 G C 111330969 3265 143 AACAGAAGCTCCCGCATCCCTCCCTCCGGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893164 110893165 110893165 downstr_intron 15 1.36585365853659 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCCGGAGGGAGGGATGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 107 233 0.998060918628836 0.949299492889423 0.97368020575913 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0120523563002929 0.00807782386520595 0.987351466655612 0.96361511567638 NA 0.0100650900827494 NA FALSE NA 0 -2.571 NA NA NA CCDC63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC63 NA NA NA ENSG00000173093 ENSE00001307685 intron_variant -0.166078 0.16521 0.02532 0.087844 0.677393484988939 0.108658 4.48038323358414e-10 FALSE 4.0822e-06 ENSE00001307685_027 ENSE00001307685 027 12 111330827 111330996 + 53 75 42 T C 111330981 3266 155 AACAGAAGCTCCCGCGTCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893176 110893177 110893177 downstr_intron 27 1.65853658536585 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGACGCGGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 369 114 1 1 1 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0363848843236199 NA FALSE NA 0 -3.088 . intron_variant MODIFIER CCDC63 HGNC 26669 ENST00000308208 9/11 1 NA ATG T,C 8.236e-06 12:110893177 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 intron_variant 0.138742 0.1163 0.00535 0.087844 0.556108443877627 0.1035 4.48038323358414e-10 FALSE 4.10502e-06 ENSE00001307685_029 ENSE00001307685 029 12 111330827 111330996 + 53 75 42 G A 111330984 3268 158 AACAGAAGCTCCTGCATCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893179 110893180 110893180 downstr_intron 30 1.73170731707317 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCAGGAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 393 28 0.994811295616485 1 0.997405647808243 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.00880273328794179 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0337905321318626 NA FALSE NA 0 -0.519 . intron_variant MODIFIER CCDC63 HGNC 26669 ENST00000308208 9/11 rs367980106 1 NA A:0 A:0.0001 CGG G,A 8.236e-06 12:110893180 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 intron_variant 0.178062 0.15411 0.03561 0.087844 0.808447598358833 0.104713 4.48038323358414e-10 FALSE 4.12031e-06 ENSE00001307685_030 ENSE00001307685 030 12 111330827 111330996 + 53 75 42 G C 111330986 3269 160 AACAGAAGCTGCCGCATCCCTCCCTCCCGATCCTGTTCTCACCTCCAGCTGTCTCAGGACAGAGTGGTTGTCATCGTGGGACAATTTCTGCTGGGATCGCAAGAGGATGATCTCGTCCTGCTCGGGAGAGAACAAGACCATGAGGAAAAGTGGGCTCTTCCCTCCCCACT 110893022 110893192 110893181 110893182 110893182 downstr_intron 32 1.78048780487805 AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGCAGCTTCTGTT AGTGGGGAGGGAAGAGCCCACTTTTCCTCATGGTCTTGTTCTCTCCCGAGCAGGACGAGATCATCCTCTTGCGATCCCAGCAGAAATTGTCCCACGATGACAACCACTCTGTCCTGAGACAGCTGGAGGTGAGAACAGGATCGGGAGGGAGGGATGCGGGAGCTTCTGTT mutant NA NA NA NA NA 260 48 1 1 1 0.976064324633828 0.998638608677396 0.986008562328544 0.941221669024217 NA NA 0.0139914376714565 0.0587783309757833 0.987351466655612 0.96361511567638 NA 0.0363848843236199 NA FALSE NA 0 0.275 . intron_variant MODIFIER CCDC63 HGNC 26669 ENST00000308208 9/11 rs202130416 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 GGA G,C 3.295e-05 12:110893182 CCDC63 HGNC Symbol protein_coding 60766 ENSG00000173093 ENSE00001307685 intron_variant -0.033272 0.19865 0.06914 0.087844 0.590831531292818 0.104713 4.48038323358414e-10 FALSE 1.2355e-05 ENSE00001307767_000 ENSE00001307767 000 17 1707885 1708054 - 35 90 45 NA NA NA NA NA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA 1804590 1804760 NA NA NA NA NA NA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA natural 10 65 0.999104773766922 0.863833952729085 0.931469363248003 1063 1831 0.941311551392947 0.970973490606161 0.956142520999554 0.999104773766922 0.863833952729085 0.941311551392947 0.970973490606161 0 0 0 0 0.931469363248003 0.956142520999554 0 0 0 FALSE FALSE NA NA NA NA NA SMYD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMYD4 NA NA NA ENSG00000186532 ENSE00001307767 NA NA NA NA NA NA NA 2.00564150829446e-11 FALSE NA ENSE00001307767_003 ENSE00001307767 003 17 1707885 1708054 - 35 90 45 C T 1707901 191 154 ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTAGTATGAGAGGACAGGA 1804590 1804760 1804606 1804607 1804607 downstr_intron 19 1.55882352941176 ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTAGTATGAGAGGACAGGA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA mutant NA NA NA NA NA 88 103 1 1 1 0.999104773766922 0.863833952729085 0.941311551392947 0.970973490606161 NA NA 0.0586884486070527 0.0290265093938389 0.931469363248003 0.956142520999554 NA 0.0438574790004458 NA FALSE NA 0 -0.536 rs75004369 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMYD4 HGNC 21067 ENST00000573937 4/4 rs75004369 1 T:0.0010 T:0 T:0 NA T:0.002 T:0 T:0.0031 CCA C,T 0.0007083 17:1804607 SMYD4 HGNC Symbol protein_coding 51149 ENSG00000186532 ENSE00001307767 non_coding_transcript_exon_variant -0.14908 0.14247 0.02667 0.156188 0.448285046054476 0.0698953 2.00564150829446e-11 FALSE 0.000674868 ENSE00001307767_008 ENSE00001307767 008 17 1707885 1708054 - 35 90 45 G A 1707964 196 91 ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTTATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA 1804590 1804760 1804669 1804670 1804670 exon -45 0.511111111111111 ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTTATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA mutant NA NA NA NA NA 106 70 1 1 1 0.999104773766922 0.863833952729085 0.941311551392947 0.970973490606161 NA NA 0.0586884486070527 0.0290265093938389 0.931469363248003 0.956142520999554 NA 0.0438574790004458 NA FALSE NA 1 5.313 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMYD4 HGNC 21067 ENST00000573937 4/4 1 NA TGA G,A 1.647e-05 17:1804670 SMYD4 HGNC Symbol protein_coding 51149 ENSG00000186532 ENSE00001307767 missense_variant -0.893859 0.95219 0.04433 0.706548 0.32127877422616 0 2.00564150829446e-11 FALSE 8.1215e-06 ENSE00001307767_009 ENSE00001307767 009 17 1707885 1708054 - 35 90 45 G A 1707977 197 78 ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGATATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA 1804590 1804760 1804682 1804683 1804683 exon 33 0.366666666666667 ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGATATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA mutant NA NA NA NA NA 256 89 0.996388706286191 1 0.998194353143096 0.999104773766922 0.863833952729085 0.941311551392947 0.970973490606161 NA NA 0.0550771548932438 0.0290265093938389 0.931469363248003 0.956142520999554 NA 0.0420518321435414 NA FALSE NA 1 1.275 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMYD4 HGNC 21067 ENST00000573937 4/4 1 NA TGT G,A 8.236e-06 17:1804683 SMYD4 HGNC Symbol protein_coding 51149 ENSG00000186532 ENSE00001307767 synonymous_variant -0.100635 0.96343 0.81445 0.706548 0.31455170792495 0 2.00564150829446e-11 FALSE 1.21822e-05 ENSE00001307767_010 ENSE00001307767 010 17 1707885 1708054 - 35 90 45 T C 1707988 198 67 ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTGACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA 1804590 1804760 1804693 1804694 1804694 exon 22 0.244444444444444 ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTGACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA mutant NA NA NA NA NA 81 545 1 0.996375759374725 0.998187879687362 0.999104773766922 0.863833952729085 0.941311551392947 0.970973490606161 NA NA 0.0586884486070527 0.0254022687685634 0.931469363248003 0.956142520999554 NA 0.0420453586878081 NA FALSE NA 0.266 -0.239 rs9907701 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SMYD4 HGNC 21067 ENST00000573937 4/4 rs9907701 1 C:0.0044 C:0.0151 C:0.0029 NA C:0 C:0 C:0 C:0.0148 C:0 TTA T,C 0.001524 17:1804694 SMYD4 HGNC Symbol protein_coding 51149 ENSG00000186532 ENSE00001307767 missense_variant 0.292062 0.891 0.14089 0.706548 0.987830209443216 0 2.00564150829446e-11 FALSE 0.00124671 ENSE00001307767_BRK ENSE00001307767 BRK 17 1707885 1708054 - 35 90 45 A,G; T,T NA NA NA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCTTGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGCCGAGTATCAGGATACCTGGTATGAGAGGACAGGA 1804590 1804760 NA NA NA NA NA NA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCTTGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGCCGAGTATCAGGATACCTGGTATGAGAGGACAGGA ATGCTGGTGTCCATTTATACTTTTAACCAGTTCATTGTTTTGCAGGGAGTGTCACATTCAAGGCCTAACACTGAGGACATGTCACTGTGTCATGCTAACCGCTCGGCAGCCCTCTTCCACCTGGGTCAGTATGAGGTGAGTATCAGGATACCTGGTATGAGAGGACAGGA control 151 52 0 0 0 NA NA NA NA NA 0.999104773766922 0.863833952729085 0.941311551392947 0.970973490606161 -0.999104773766922 -0.863833952729085 NA NA 0.931469363248003 0.956142520999554 -0.931469363248003 NA NA NA TRUE NA NA NA NA NA SMYD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMYD4 NA NA NA ENSG00000186532 ENSE00001307767 NA NA NA NA NA NA NA 2.00564150829446e-11 FALSE NA ENSE00001308061_000 ENSE00001308061 000 11 20117176 20117345 + 42 96 32 NA NA NA NA NA GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 NA NA NA NA NA NA GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC natural 74 103 0.935925526219737 0.914655579287916 0.925290552753826 653 1325 0.815303917349559 0.992759891760993 0.904031904555276 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 0 0 0 0 0.925290552753826 0.904031904555276 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAV2 NA NA NA ENSG00000166833 ENSE00001308061 NA NA NA NA NA NA NA 0.997517125070282 TRUE NA ENSE00001308061_001 ENSE00001308061 001 11 20117176 20117345 + 42 96 32 T G 20117189 755 14 GATCCACCTGTTTGTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095642 20095643 20095643 upstr_intron -29 -0.666666666666667 GATCCACCTGTTTGTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 107 920 0.8 0.718062388711044 0.759031194355522 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA -0.0153039173495593 -0.274697503049949 0.925290552753826 0.904031904555276 NA -0.145000710199754 NA FALSE NA 0.051 1.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:20095643 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant 2.328814 0.98511 0.94919 0.069865 0.922885217665146 0.911567 0.997517125070282 TRUE 4.07309e-06 ENSE00001308061_002 ENSE00001308061 002 11 20117176 20117345 + 42 96 32 T C 20117189 756 14 GATCCACCTGTTTCTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095642 20095643 20095643 upstr_intron -29 -0.666666666666667 GATCCACCTGTTTCTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 181 380 1 1 1 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.184696082650441 0.00724010823900711 0.925290552753826 0.904031904555276 NA 0.0959680954447239 NA FALSE NA 0.051 1.08 NA NA NA NAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAV2 NA NA NA ENSG00000166833 ENSE00001308061 intron_variant 2.191755 0.98205 0.93361 0.069865 0.907696696225652 0.911567 0.997517125070282 TRUE 4.07309e-06 ENSE00001308061_003 ENSE00001308061 003 11 20117176 20117345 + 42 96 32 A G 20117192 757 17 GATCCACCTGTTTTTCGCCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095645 20095646 20095646 upstr_intron -26 -0.595238095238095 GATCCACCTGTTTTTCGCCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant 23 29 0.109381618885117 0 0.0546908094425583 NA NA NA NA NA 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 -0.82654390733462 -0.914655579287916 NA NA 0.925290552753826 0.904031904555276 -0.870599743311268 NA NA NA TRUE 0.118 2.181 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000396085 30/38 1 NA CAC A,G 8.236e-06 11:20095646 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant 2.646712 0.97966 0.93513 0.069865 0.921145325951796 0.576302 0.997517125070282 TRUE 4.07651e-06 ENSE00001308061_004 ENSE00001308061 004 11 20117176 20117345 + 42 96 32 A C 20117202 758 27 GATCCACCTGTTTTTCACCTGTGTACCTTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095655 20095656 20095656 upstr_intron -16 -0.357142857142857 GATCCACCTGTTTTTCACCTGTGTACCTTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 53 325 1 1 1 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.184696082650441 0.00724010823900711 0.925290552753826 0.904031904555276 NA 0.0959680954447239 NA FALSE NA 0.115 -0.189 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000396085 30/38 1 NA CAT A,C 8.236e-06 11:20095656 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant 1.807744 0.79149 0.06268 0.069865 0.891753698816768 0.292277 0.997517125070282 TRUE 1.21971e-05 ENSE00001308061_005 ENSE00001308061 005 11 20117176 20117345 + 42 96 32 C T 20117207 759 32 GATCCACCTGTTTTTCACCTGTGTACATTTCTTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095660 20095661 20095661 upstr_intron -11 -0.238095238095238 GATCCACCTGTTTTTCACCTGTGTACATTTCTTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 689 677 0.999940255702704 0.897112004503925 0.948526130103314 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.184636338353145 -0.095647887257068 0.925290552753826 0.904031904555276 NA 0.0444942255480383 NA FALSE NA 0.364 1.109 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000396085 30/38 rs374263917 1 NA T:0.0002 T:0 CCT C,T 4.118e-05 11:20095661 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant 2.41984 0.97342 0.72379 0.069865 0.758616847571317 0.902623 0.997517125070282 TRUE 5.28296e-05 ENSE00001308061_006 ENSE00001308061 006 11 20117176 20117345 + 42 96 32 A G 20117210 760 35 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTGCCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095663 20095664 20095664 upstr_intron -8 -0.166666666666667 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTGCCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 12 94 0.8 0.994988897506692 0.897494448753346 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA -0.0153039173495593 0.00222900574569906 0.925290552753826 0.904031904555276 NA -0.0065374558019301 NA FALSE NA 0.117 -0.053 rs150276360 splice_region_variant&intron_variant LOW NAV2 HGNC 15997 ENST00000396085 30/38 rs150276360 1 G:0.0054 G:0.0015 G:0 NA G:0.0188 G:0.002 G:0.0041 G:0.0002 G:0.0019 TAC A,G 0.002973 11:20095664 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 splice_region_variant 1.608671 0.96375 0.08321 0.069865 0.842067261226996 0.59346 0.997517125070282 TRUE 0.00320627 ENSE00001308061_007 ENSE00001308061 007 11 20117176 20117345 + 42 96 32 G A 20117218 761 43 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGAATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095671 20095672 20095672 exon 1 0.0104166666666667 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGAATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant 37 256 0 0 0 30 202 0 0.00250796002850142 0.00125398001425071 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 -0.935925526219737 -0.914655579287916 -0.815303917349559 -0.990251931732491 0.925290552753826 0.904031904555276 -0.925290552753826 -0.902777924541025 0.0225126282128009 TRUE TRUE 1 7.688 rs150212903 missense_variant&splice_region_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 rs150212903 1 deleterious(0.03) possibly_damaging(0.856) NA A:0.0005 A:0 GGA G,A 8.236e-06 11:20095672 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 6.10464 0.99494 0.98721 0.645754 0.999075498307353 0 0.997517125070282 TRUE 8.12506e-06 ENSE00001308061_008 ENSE00001308061 008 11 20117176 20117345 + 42 96 32 C T 20117228 762 53 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACTACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095681 20095682 20095682 exon 11 0.114583333333333 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACTACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant 102 232 0.85 0.85 0.85 653 718 0.947825394564763 0.984977641012499 0.966401517788631 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 -0.085925526219737 -0.0646555792879157 0.132521477215203 -0.00778225074849359 0.925290552753826 0.904031904555276 -0.0752905527538263 0.0623696132333548 0.137660165987181 FALSE FALSE 1 4.744 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 1 tolerated(0.05) possibly_damaging(0.511) NA CCA C,T 8.236e-06 11:20095682 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 7.197364 0.98762 0.9596 0.645754 0.998378612361092 0 0.997517125070282 TRUE 4.06237e-06 ENSE00001308061_010 ENSE00001308061 010 11 20117176 20117345 + 42 96 32 C G 20117235 764 60 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTGTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095688 20095689 20095689 exon 18 0.1875 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTGTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 71 346 1 1 1 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.184696082650441 0.00724010823900711 0.925290552753826 0.904031904555276 NA 0.0959680954447239 NA FALSE NA 0.986 0.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:20095689 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 synonymous_variant 1.827728 0.97235 0.86775 0.645754 0.731881511610177 0 0.997517125070282 TRUE 0.00262812 ENSE00001308061_011 ENSE00001308061 011 11 20117176 20117345 + 42 96 32 C A 20117235 765 60 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTATTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095688 20095689 20095689 exon 18 0.1875 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTATTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 256 2060 0.954310073161468 0.857815783512223 0.906062928336845 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.139006155811908 -0.13494410824877 0.925290552753826 0.904031904555276 NA 0.00203102378156922 NA FALSE NA 0.986 0.448 NA NA NA NAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAV2 NA NA NA ENSG00000166833 ENSE00001308061 synonymous_variant 2.478445 0.97189 0.82617 0.645754 0.738795975614859 0 0.997517125070282 TRUE 0.000251844 ENSE00001308061_012 ENSE00001308061 012 11 20117176 20117345 + 42 96 32 T C 20117238 766 63 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTCCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095691 20095692 20095692 exon 21 0.21875 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTCCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 1868 365 0.962072216700246 1 0.981036108350123 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.146768299350686 0.00724010823900711 0.925290552753826 0.904031904555276 NA 0.0770042037948468 NA FALSE NA 1 0.776 . synonymous_variant LOW NAV2 HGNC 15997 ENST00000396085 31/39 1 NA TTC T,C 8.236e-06 11:20095692 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 synonymous_variant 0.69189 0.97189 0.79189 0.645754 0.630934164620747 0 0.997517125070282 TRUE 1.21859e-05 ENSE00001308061_013 ENSE00001308061 013 11 20117176 20117345 + 42 96 32 T G 20117244 767 69 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATGGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095697 20095698 20095698 exon 27 0.28125 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATGGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant 21 124 0.85 0.805741978184837 0.827870989092418 110 122 0.879045167089255 0.958240992656201 0.918643079872728 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 -0.0859255262197369 -0.108913601103079 0.063741249739696 -0.0345188991047923 0.925290552753826 0.904031904555276 -0.097419563661408 0.0146111753174518 0.11203073897886 FALSE FALSE 1 1.423 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 1 deleterious(0) probably_damaging(0.999) NA TTG T,G 8.236e-06 11:20095698 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 5.574462 0.97703 0.92473 0.645754 0.997424240578823 0 0.997517125070282 TRUE 8.12387e-06 ENSE00001308061_014 ENSE00001308061 014 11 20117176 20117345 + 42 96 32 G A 20117255 768 80 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGAAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095708 20095709 20095709 exon 38 0.395833333333333 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGAAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant 23 43 0.85 0.85 0.85 1685 929 0.960206142046245 0.962625738184656 0.96141594011545 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 -0.085925526219737 -0.0646555792879157 0.144902224696686 -0.0301341535763372 0.925290552753826 0.904031904555276 -0.0752905527538263 0.0573840355601742 0.132674588314001 FALSE FALSE 1 9.77 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 1 deleterious(0.01) probably_damaging(1) NA GGA G,A 8.236e-06 11:20095709 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 6.987957 0.99504 0.99507 0.645754 0.997919640170545 0 0.997517125070282 TRUE 4.06138e-06 ENSE00001308061_015 ENSE00001308061 015 11 20117176 20117345 + 42 96 32 A C 20117266 769 91 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCCAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095719 20095720 20095720 exon -48 0.510416666666667 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCCAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 69 532 0.8 0.8 0.8 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA -0.0153039173495593 -0.192759891760993 0.925290552753826 0.904031904555276 NA -0.104031904555276 NA FALSE NA 1 7.429 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 1 deleterious(0.01) probably_damaging(0.999) NA CAA A,C 8.236e-06 11:20095720 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 6.486928 0.99338 0.99177 0.645754 0.996430953708006 0 0.997517125070282 TRUE 4.06114e-06 ENSE00001308061_016 ENSE00001308061 016 11 20117176 20117345 + 42 96 32 C T 20117270 770 95 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGATGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095723 20095724 20095724 exon -44 0.552083333333333 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGATGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 18 383 0.848681240965869 0.873211047356642 0.860946144161256 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.0333773236163101 -0.119548844404351 0.925290552753826 0.904031904555276 NA -0.0430857603940203 NA FALSE NA 1 5.962 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 1 tolerated(0.1) probably_damaging(1) NA ACG C,T 3.295e-05 11:20095724 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 6.319911 0.99088 0.96731 0.645754 0.998704406161094 0 0.997517125070282 TRUE 3.24907e-05 ENSE00001308061_017 ENSE00001308061 017 11 20117176 20117345 + 42 96 32 G A 20117271 771 96 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACAAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095724 20095725 20095725 exon -43 0.5625 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACAAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 64 261 0.8 0.793344050973538 0.796672025486769 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA -0.0153039173495593 -0.199415840787455 0.925290552753826 0.904031904555276 NA -0.107359879068507 NA FALSE NA 0.067 -0.576 . synonymous_variant LOW NAV2 HGNC 15997 ENST00000396085 31/39 1 NA CGA G,A 1.647e-05 11:20095725 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 synonymous_variant 1.874738 0.96619 0.32408 0.645754 0.680964240253399 0 0.997517125070282 TRUE 4.06114e-06 ENSE00001308061_020 ENSE00001308061 020 11 20117176 20117345 + 42 96 32 C T 20117286 774 111 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTTGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095739 20095740 20095740 exon -28 0.71875 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTTGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 252 355 0.833988299422087 0.800711925443041 0.817350112432564 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.0186843820725276 -0.192047966317952 0.925290552753826 0.904031904555276 NA -0.086681792122712 NA FALSE NA 1 2.365 . synonymous_variant LOW NAV2 HGNC 15997 ENST00000396085 31/39 rs200239971 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 2.471e-05 11:20095740 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 synonymous_variant 2.650518 0.98135 0.8773 0.645754 0.731247051757012 0 0.997517125070282 TRUE 6.90395e-05 ENSE00001308061_021 ENSE00001308061 021 11 20117176 20117345 + 42 96 32 A G 20117299 775 124 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTGGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095752 20095753 20095753 exon -15 0.854166666666667 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTGGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 284 406 1 0.947981097965077 0.973990548982539 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.184696082650441 -0.0447787937959158 0.925290552753826 0.904031904555276 NA 0.0699586444272625 NA FALSE NA 1 2.652 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 1 tolerated(0.08) possibly_damaging(0.864) NA TAG A,G 4.118e-05 11:20095753 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 5.773313 0.98148 0.94829 0.645754 0.998468937682429 0 0.997517125070282 TRUE 2.03069e-05 ENSE00001308061_022 ENSE00001308061 022 11 20117176 20117345 + 42 96 32 C T 20117302 776 127 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGATGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095755 20095756 20095756 exon -12 0.885416666666667 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGATGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant 29 22 0 0 0 2205 626 0.754327829391115 0.797617887894821 0.775972858642968 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 -0.935925526219737 -0.914655579287916 -0.0609760879584443 -0.195142003866172 0.925290552753826 0.904031904555276 -0.925290552753826 -0.128059045912308 0.797231506841518 FALSE TRUE 1 3.089 rs146972682 missense_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 rs146972682 1 deleterious(0) probably_damaging(1) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0 ACG C,T 2.471e-05 11:20095756 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 8.379104 0.98433 0.9677 0.645754 0.999228544978738 0 0.997517125070282 TRUE 2.0307e-05 ENSE00001308061_023 ENSE00001308061 023 11 20117176 20117345 + 42 96 32 G A 20117303 777 128 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACAGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095756 20095757 20095757 exon -11 0.895833333333333 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACAGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 1987 176 0.613198230617352 0.8 0.706599115308676 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA -0.202105686732207 -0.192759891760993 0.925290552753826 0.904031904555276 NA -0.1974327892466 NA FALSE NA 1 7.849 . missense_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 rs527356991 1 tolerated(0.4) probably_damaging(0.999) A:0.0010 A:0 A:0 NA A:0 A:0 A:0.0051 CGG G,A 0.0002389 11:20095757 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 6.671802 0.99112 0.98119 0.645754 0.999428567089026 0 0.997517125070282 TRUE 0.000219325 ENSE00001308061_024 ENSE00001308061 024 11 20117176 20117345 + 42 96 32 G C 20117307 778 132 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTCTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095760 20095761 20095761 exon -7 0.9375 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTCTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 260 801 0.940859509037881 0.993522974548681 0.967191241793281 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.125555591688322 0.000763082787687663 0.925290552753826 0.904031904555276 NA 0.0631593372380048 NA FALSE NA 0.455 -0.399 NA NA NA NAV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:20095761 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 synonymous_variant 1.466165 0.69734 0.35501 0.645754 0.730303607834494 0 0.997517125070282 TRUE 7.31149e-05 ENSE00001308061_027 ENSE00001308061 027 11 20117176 20117345 + 42 96 32 A G 20117312 781 137 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAGAGTAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 20095765 20095766 20095766 exon -2 0.989583333333333 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAGAGTAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 1105 384 0.849030252434894 0.740756537780775 0.794893395107835 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.0337263350853347 -0.252003353980218 0.925290552753826 0.904031904555276 NA -0.109138509447441 NA FALSE NA 1 9.247 . missense_variant&splice_region_variant MODERATE NAV2 HGNC 15997 ENST00000396085 31/39 1 deleterious(0.01) probably_damaging(0.998) NA AAA A,G 8.236e-06 11:20095766 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 missense_variant 6.541506 0.99334 0.99466 0.645754 0.999186868785133 0 0.997517125070282 TRUE 4.0621e-06 ENSE00001308061_028 ENSE00001308061 028 11 20117176 20117345 + 42 96 32 C A 20117324 782 149 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTAAAGACAACGGCTACAGCATAC 20095629 20095799 20095777 20095778 20095778 downstr_intron 11 1.35483870967742 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTAAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 87 688 0.952079363482868 0.969405172434172 0.96074226795852 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.136775446133309 -0.0233547193268211 0.925290552753826 0.904031904555276 NA 0.056710363403244 NA FALSE NA 0.002 0.727 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000396085 31/38 rs369196967 1 NA A:0 A:0.0001 TCA C,A 8.236e-06 11:20095778 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant 0.795881 0.3048 0.04893 0.0869 0.679187435838653 0.302286 0.997517125070282 TRUE NA ENSE00001308061_029 ENSE00001308061 029 11 20117176 20117345 + 42 96 32 A G 20117326 783 151 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAGGACAACGGCTACAGCATAC 20095629 20095799 20095779 20095780 20095780 downstr_intron 13 1.41935483870968 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAGGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 541 161 0.95 0.940768933425628 0.945384466712814 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.134696082650441 -0.0519909583353646 0.925290552753826 0.904031904555276 NA 0.041352562157538 NA FALSE NA 0.023 0.581 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000396085 31/38 1 NA AAG A,G 8.236e-06 11:20095780 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant 0.229637 0.22658 0.13376 0.0869 0.466166310385109 0.14961 0.997517125070282 TRUE 4.06296e-06 ENSE00001308061_030 ENSE00001308061 030 11 20117176 20117345 + 42 96 32 A G 20117330 784 155 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACGACGGCTACAGCATAC 20095629 20095799 20095783 20095784 20095784 downstr_intron 17 1.54838709677419 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACGACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 174 176 0.995417722472049 1 0.997708861236024 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.180113805122489 0.00724010823900711 0.925290552753826 0.904031904555276 NA 0.0936769566807482 NA FALSE NA 0.001 0.621 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000396085 31/38 1 NA CAA A,G 4.118e-05 11:20095784 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant 0.000718 0.11702 0.00242 0.0869 0.284377141595021 0.0820127 0.997517125070282 TRUE 2.03188e-05 ENSE00001308061_031 ENSE00001308061 031 11 20117176 20117345 + 42 96 32 A G 20117331 785 156 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAGCGGCTACAGCATAC 20095629 20095799 20095784 20095785 20095785 downstr_intron 18 1.58064516129032 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAGCGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant 20 43 0.85 0.85 0.85 NA NA NA NA NA 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 -0.085925526219737 -0.0646555792879157 NA NA 0.925290552753826 0.904031904555276 -0.0752905527538263 NA NA NA FALSE 0 -0.051 rs2289565 intron_variant MODIFIER NAV2 HGNC 15997 ENST00000396085 31/38 rs2289565 1 NA AAC A,G 6.589e-05 11:20095785 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant -0.060283 0.14877 0.04304 0.0869 0.28225892507462 0.0820127 0.997517125070282 TRUE 7.31392e-05 ENSE00001308061_034 ENSE00001308061 034 11 20117176 20117345 + 42 96 32 C T 20117335 788 160 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGTTACAGCATAC 20095629 20095799 20095788 20095789 20095789 downstr_intron 22 1.70967741935484 GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGTTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC mutant NA NA NA NA NA 846 1467 0.988538895869448 0.999113067983393 0.993825981926421 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 NA NA 0.173234978519888 0.00635317622240039 0.925290552753826 0.904031904555276 NA 0.0897940773711444 NA FALSE NA 0 -0.051 . intron_variant MODIFIER NAV2 HGNC 15997 ENST00000396085 31/38 rs374959629 1 NA T:0 T:0.0001 GCT C,T 8.236e-06 11:20095789 NAV2 HGNC Symbol protein_coding 770874 ENSG00000166833 ENSE00001308061 intron_variant 0.252951 0.19332 0.06346 0.0869 0.519209873231517 0.0820127 0.997517125070282 TRUE NA ENSE00001308061_BRK ENSE00001308061 BRK 11 20117176 20117345 + 42 96 32 A,G; T,T NA NA NA GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTTTGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAACCAAGTGTTTCAAGACAACGGCTACAGCATAC 20095629 20095799 NA NA NA NA NA NA GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTTTGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAACCAAGTGTTTCAAGACAACGGCTACAGCATAC GATCCACCTGTTTTTCACCTGTGTACATTTCCTTACCCTTAGGATTCCAGACCACATCTCTTTCTTATTGGCTGCATTGGAGTTAGTGGCAAGACGAAGTGGGATGTGCTCGATGGGGTGGTTAGACGGCTGTTCAAAGTAAGTGTTTCAAGACAACGGCTACAGCATAC control 28 23 0 0 0 1209 1023 0 0.000312694376118452 0.000156347188059226 0.935925526219737 0.914655579287916 0.815303917349559 0.992759891760993 -0.935925526219737 -0.914655579287916 -0.815303917349559 -0.992447197384874 0.925290552753826 0.904031904555276 -0.925290552753826 -0.903875557367217 0.0214149953866095 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001308061 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00001308105_000 ENSE00001308105 000 X 71924991 71925160 - 56 48 66 NA NA NA NA NA TTGCTGAGTAAGTGTTCCTGTATCTAGGGATGTTTATAACTGTCTTGTTTCCATTTATTTCTGCAGAGTGTAGTGAAGCTGATGAGAGGACTACTGCACTGCATGATCAGACAGGTATGGTATTGATAACACCTTCCTCTCTAATAAAAGCACATTGTAATAGTATCTCT 72705141 72705311 NA NA NA NA NA NA TTGCTGAGTAAGTGTTCCTGTATCTAGGGATGTTTATAACTGTCTTGTTTCCATTTATTTCTGCAGAGTGTAGTGAAGCTGATGAGAGGACTACTGCACTGCATGATCAGACAGGTATGGTATTGATAACACCTTCCTCTCTAATAAAAGCACATTGTAATAGTATCTCT TTGCTGAGTAAGTGTTCCTGTATCTAGGGATGTTTATAACTGTCTTGTTTCCATTTATTTCTGCAGAGTGTAGTGAAGCTGATGAGAGGACTACTGCACTGCATGATCAGACAGGTATGGTATTGATAACACCTTCCTCTCTAATAAAAGCACATTGTAATAGTATCTCT natural NA NA NA NA NA 1487 3454 0.997400809150469 0.993528731661183 0.995464770405826 NA NA 0.997400809150469 0.993528731661183 NA NA 0 0 NA 0.995464770405826 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001308105 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001308393_000 ENSE00001308393 000 15 73848598 73848767 + 45 90 35 NA NA NA NA NA GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 NA NA NA NA NA NA GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT natural 70 102 0.992005828005606 0.986584395526666 0.989295111766136 4384 3595 0.87679728069181 0.983727586748583 0.930262433720197 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0 0 0 0 0.989295111766136 0.930262433720197 0 0 0 FALSE FALSE NA NA NA NA NA C15orf60 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REC114 NA NA NA ENSG00000183324 ENSE00001308393 NA NA NA NA NA NA NA NA NA NA ENSE00001308393_001 ENSE00001308393 001 15 73848598 73848767 + 45 90 35 A C 73848612 1775 15 GATTACATTCAGCTCGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556270 73556271 73556271 upstr_intron -31 -0.666666666666667 GATTACATTCAGCTCGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 778 1091 0.90646419222503 0.995728360154012 0.951096276189521 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.0296669115332199 0.0120007734054295 0.989295111766136 0.930262433720197 NA 0.0208338424693247 NA FALSE NA 0 -0.951 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 4/5 rs376170807 1 C:0.0012 C:0 C:0 NA C:0.006 C:0 C:0 TAG A,C 0.0003556 15:73556271 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant -0.161199 0.11452 0.00774 0.069865 0.668440628631277 0.0873027 NA NA 0.000427675 ENSE00001308393_002 ENSE00001308393 002 15 73848598 73848767 + 45 90 35 C T 73848615 1776 18 GATTACATTCAGCTAGTTTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556273 73556274 73556274 upstr_intron -28 -0.6 GATTACATTCAGCTAGTTTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 58 24 0.996712868824321 0.995109300986468 0.995911084905395 NA NA NA NA NA 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00470704081871565 0.00852490545980233 NA NA 0.989295111766136 0.930262433720197 0.00661597313925899 NA NA NA FALSE 0.605 0.483 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 4/5 1 NA TCT C,T 8.271e-06 15:73556274 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant 0.791067 0.31547 0.01747 0.069865 0.724895898809134 0.0873027 NA NA 4.29594e-06 ENSE00001308393_003 ENSE00001308393 003 15 73848598 73848767 + 45 90 35 C T 73848617 1777 20 GATTACATTCAGCTAGTCTTCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556275 73556276 73556276 upstr_intron -26 -0.555555555555556 GATTACATTCAGCTAGTCTTCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 31 19 0.974955768586394 1 0.987477884293197 938 1221 0.998053414241155 1 0.999026707120578 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.0170500594192117 0.013415604473334 0.121256133549345 0.0162724132514173 0.989295111766136 0.930262433720197 -0.00181722747293883 0.068764273400381 0.0705815008733198 FALSE FALSE 0.825 0.21 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 4/5 1 NA TCC C,T 8.271e-06 15:73556276 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant 0.765551 0.24901 0.01099 0.069865 0.742558414842373 0.0848936 NA NA 8.33507e-06 ENSE00001308393_004 ENSE00001308393 004 15 73848598 73848767 + 45 90 35 T C 73848619 1778 22 GATTACATTCAGCTAGTCTCCCTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556277 73556278 73556278 upstr_intron -24 -0.511111111111111 GATTACATTCAGCTAGTCTCCCTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 110 83 0.85 0.85 0.85 545 1601 0.936602784086479 0.916054699754948 0.926328741920714 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.142005828005606 -0.136584395526666 0.0598055033946689 -0.0676728869936349 0.989295111766136 0.930262433720197 -0.139295111766136 -0.003933691799483 0.135361419966653 FALSE FALSE 0.844 1.592 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 4/5 1 NA CTT T,C 8.271e-06 15:73556278 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant 0.617027 0.50528 0.386 0.069865 0.730129439396928 0.565432 NA NA NA ENSE00001308393_005 ENSE00001308393 005 15 73848598 73848767 + 45 90 35 C A 73848625 1779 28 GATTACATTCAGCTAGTCTCCTTATTGAATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556283 73556284 73556284 upstr_intron -18 -0.377777777777778 GATTACATTCAGCTAGTCTCCTTATTGAATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 1033 458 0.997982590806193 1 0.998991295403096 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.121185310114382 0.0162724132514173 0.989295111766136 0.930262433720197 NA 0.0687288616828997 NA FALSE NA 0 -0.145 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 4/5 1 NA GCA C,A 2.481e-05 15:73556284 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant 0.335969 0.18794 0.10792 0.069865 0.747064137488825 0.046323 NA NA 1.65815e-05 ENSE00001308393_006 ENSE00001308393 006 15 73848598 73848767 + 45 90 35 T C 73848630 1780 33 GATTACATTCAGCTAGTCTCCTTATTGCATGTCGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556288 73556289 73556289 upstr_intron -13 -0.266666666666667 GATTACATTCAGCTAGTCTCCTTATTGCATGTCGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 29 32 0.999711078627499 0.995109300986468 0.997410189806984 847 655 0.997589064431152 0.98610370836052 0.991846386395836 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00770525062189342 0.00852490545980233 0.120791783739342 0.00237612161193679 0.989295111766136 0.930262433720197 0.00811507804084788 0.0615839526756394 0.0534688746347915 FALSE FALSE 0 0.129 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 4/5 1 NA TTG T,C 1.654e-05 15:73556289 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant 0.356534 0.16322 0.05462 0.069865 0.63352582800605 0.0912402 NA NA 2.47965e-05 ENSE00001308393_007 ENSE00001308393 007 15 73848598 73848767 + 45 90 35 T G 73848634 1781 37 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTGTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556292 73556293 73556293 upstr_intron -9 -0.177777777777778 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTGTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 1096 298 0.854453438193895 0.946677147352552 0.900565292773224 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA -0.0223438424979152 -0.0370504393960307 0.989295111766136 0.930262433720197 NA -0.029697140946973 NA FALSE NA 0 0.7 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 4/5 1 NA TTT T,G 8.27e-06 15:73556293 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant 1.027557 0.17019 0.0704 0.069865 0.745509234485905 0.0873027 NA NA 4.10533e-06 ENSE00001308393_008 ENSE00001308393 008 15 73848598 73848767 + 45 90 35 C T 73848640 1782 43 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCTAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556298 73556299 73556299 upstr_intron -3 -0.0444444444444444 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCTAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 1060 1170 0.958113518052143 0.994711914125652 0.976412716088898 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.0813162373603327 0.0109843273770692 0.989295111766136 0.930262433720197 NA 0.0461502823687009 NA FALSE NA 0.831 1.233 rs74488445 splice_region_variant&intron_variant LOW C15orf60 HGNC 25065 ENST00000331090 4/5 rs74488445 1 T:0.0218 T:0.0794 T:0.0058 NA T:0 T:0 T:0 T:0.0552 T:0.0002 CCA C,T 0.005285 15:73556299 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 splice_region_variant 1.310484 0.35354 0.56534 0.069865 0.810317178315975 0.0947688 NA NA 0.0042698 ENSE00001308393_009 ENSE00001308393 009 15 73848598 73848767 + 45 90 35 C T 73848644 1783 47 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTTCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556302 73556303 73556303 exon 2 0.0222222222222222 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTTCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 745 356 0.995817342329713 1 0.997908671164857 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.119020061637903 0.0162724132514173 0.989295111766136 0.930262433720197 NA 0.0676462374446601 NA FALSE NA 0 -0.147 . missense_variant&splice_region_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 1 tolerated(0.05) benign(0.22) NA TCC C,T 8.268e-06 15:73556303 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 1.895772 0.13806 0.02247 0.568482 0.977097645451512 0 NA NA NA ENSE00001308393_010 ENSE00001308393 010 15 73848598 73848767 + 45 90 35 C T 73848646 1784 49 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCTACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556304 73556305 73556305 exon 4 0.0444444444444444 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCTACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 1273 573 0.999676272358759 0.983058389645453 0.991367331002106 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.122878991666948 -0.000669197103129293 0.989295111766136 0.930262433720197 NA 0.0611048972819094 NA FALSE NA 0 0.046 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 rs368274140 1 tolerated(0.95) benign(0.002) NA T:0 T:0.0004 CCA C,T 5.788e-05 15:73556305 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 0.677831 0.1839 0.0295 0.568482 0.903767481710213 0 NA NA 4.48456e-05 ENSE00001308393_011 ENSE00001308393 011 15 73848598 73848767 + 45 90 35 C A 73848648 1785 51 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCAACAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556306 73556307 73556307 exon 6 0.0666666666666667 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCAACAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 13 36 1 0.999855695161113 0.999927847580556 474 891 1 0.91838373494453 0.959191867472265 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00799417199439423 0.0132712996344466 0.12320271930819 -0.0653438518040531 0.989295111766136 0.930262433720197 0.0106327358144204 0.0289294337520682 0.0182966979376478 FALSE FALSE 0 -1.436 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 1 tolerated(0.35) benign(0.004) NA ACC C,A 8.268e-06 15:73556307 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 1.639771 0.19593 0.05426 0.568482 0.887076755383459 0 NA NA 4.07548e-06 ENSE00001308393_012 ENSE00001308393 012 15 73848598 73848767 + 45 90 35 C G 73848661 1786 64 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAAGAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556319 73556320 73556320 exon 19 0.211111111111111 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAAGAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 34 107 0.933169167794962 0.85 0.891584583897481 722 2181 0.936965467973568 0.997120029336635 0.967042748655102 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.0588366602106435 -0.136584395526666 0.0601681872817581 0.0133924425880523 0.989295111766136 0.930262433720197 -0.0977105278686548 0.0367803149349052 0.13449084280356 FALSE FALSE 0.09 0.603 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 1 tolerated(1) benign(0.006) NA ACA ,G 0.0004216 15:73556320 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant -1.042489 0.25729 0.11777 0.568482 0.69493524224295 0 NA NA 0.000333879 ENSE00001308393_013 ENSE00001308393 013 15 73848598 73848767 + 45 90 35 A G 73848663 1787 66 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAGCAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556321 73556322 73556322 exon 21 0.233333333333333 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAGCAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 173 3789 1 0.99784843894421 0.998924219472105 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.12320271930819 0.0141208521956271 0.989295111766136 0.930262433720197 NA 0.0686617857519083 NA FALSE NA 0.107 0 . synonymous_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/6 1 NA AAC ,G 1.653e-05 15:73556322 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 synonymous_variant -0.237999 0.23109 0.1153 0.568482 0.85881524539059 0 NA NA 2.44337e-05 ENSE00001308393_014 ENSE00001308393 014 15 73848598 73848767 + 45 90 35 G A 73848672 1788 75 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTATGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556330 73556331 73556331 exon 30 0.333333333333333 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTATGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 21 12 0.999151624450049 1 0.999575812225025 1963 1395 0.997565728876693 0.99325498477452 0.995410356825607 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00714579644444369 0.013415604473334 0.120768448184883 0.00952739802593761 0.989295111766136 0.930262433720197 0.0102807004588888 0.0651479231054102 0.0548672226465213 FALSE FALSE 0 0.001 . synonymous_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/6 1 NA TGT G,A 8.267e-06 15:73556331 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 synonymous_variant 0.152535 0.22893 0.04806 0.568482 0.580437994334969 0 NA NA 1.62861e-05 ENSE00001308393_015 ENSE00001308393 015 15 73848598 73848767 + 45 90 35 G T 73848676 1789 79 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTTTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556334 73556335 73556335 exon 34 0.377777777777778 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTTTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 598 1056 0.987465574749986 0.998943086647851 0.993204330698919 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.110668294058176 0.0152154998992682 0.989295111766136 0.930262433720197 NA 0.062941896978722 NA FALSE NA 0 -0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:73556335 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant -0.760638 0.16816 0.04962 0.568482 0.681755248496078 0 NA NA 6.51487e-05 ENSE00001308393_016 ENSE00001308393 016 15 73848598 73848767 + 45 90 35 G C 73848676 1790 79 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTCTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556334 73556335 73556335 exon 34 0.377777777777778 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTCTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 1750 211 0.997439491018975 0.998497953841691 0.997968722430333 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.120642210327164 0.014770367093108 0.989295111766136 0.930262433720197 NA 0.0677062887101361 NA FALSE NA 0 -0.037 NA NA NA C15orf60 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REC114 NA NA NA ENSG00000183324 ENSE00001308393 missense_variant -0.908921 0.17066 0.04634 0.568482 0.532586715316441 0 NA NA 4.07179e-06 ENSE00001308393_017 ENSE00001308393 017 15 73848598 73848767 + 45 90 35 A C 73848681 1791 84 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACCGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556339 73556340 73556340 exon 39 0.433333333333333 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACCGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 626 715 0.890990789730982 0.999893476660142 0.945442133195562 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.0141935090391712 0.016165889911559 0.989295111766136 0.930262433720197 NA 0.0151796994753651 NA FALSE NA 0 -1.964 . synonymous_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/6 1 NA CAG A,C 8.268e-06 15:73556340 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 synonymous_variant -1.986384 0.12665 0.03483 0.568482 0.41421950971876 0 NA NA 8.14445e-06 ENSE00001308393_018 ENSE00001308393 018 15 73848598 73848767 + 45 90 35 C T 73848683 1792 86 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGTGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556341 73556342 73556342 exon 41 0.455555555555556 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGTGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 168 125 0.85 0.85 0.85 697 513 0.949289828035145 0.952588282713439 0.950939055374292 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.142005828005606 -0.136584395526666 0.0724925473433347 -0.0311393040351434 0.989295111766136 0.930262433720197 -0.139295111766136 0.0206766216540956 0.159971733420232 FALSE FALSE 0 -0.063 rs115150158 missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 rs115150158 1 tolerated(0.57) benign(0.06) NA T:0.0002 T:0.0002 GCG C,T 8.268e-05 15:73556342 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 1.340027 0.19047 0.08066 0.568482 0.951882216608732 0 NA NA 8.55453e-05 ENSE00001308393_019 ENSE00001308393 019 15 73848598 73848767 + 45 90 35 G A 73848684 1793 87 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCAGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556342 73556343 73556343 exon 42 0.466666666666667 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCAGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 19 65 0.85 0.897513049916577 0.873756524958289 948 864 0.969840679350762 0.997398952172552 0.983619815761657 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.142005828005606 -0.0890713456100886 0.0930433986589512 0.0136713654239694 0.989295111766136 0.930262433720197 -0.115538586807847 0.0533573820414603 0.168895968849307 FALSE FALSE 0 -2.636 . synonymous_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/6 rs369531036 1 NA A:0.0002 A:0.0001 CGG G,A 7.441e-05 15:73556343 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 synonymous_variant 0.68009 0.12762 0.00805 0.568482 0.731625577832712 0 NA NA 6.92368e-05 ENSE00001308393_020 ENSE00001308393 020 15 73848598 73848767 + 45 90 35 G A 73848686 1794 89 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGACACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556344 73556345 73556345 exon 44 0.488888888888889 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGACACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 690 1437 0.994817435807147 1 0.997408717903574 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.118020155115337 0.0162724132514173 0.989295111766136 0.930262433720197 NA 0.0671462841833771 NA FALSE NA 0.037 1.172 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 rs377361229 1 deleterious(0.03) benign(0.299) NA A:0.0002 A:0 GGC G,A 4.134e-05 15:73556345 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 0.300698 0.2008 0.05871 0.568482 0.993014040538971 0 NA NA 2.44415e-05 ENSE00001308393_022 ENSE00001308393 022 15 73848598 73848767 + 45 90 35 G A 73848694 1796 97 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCACTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556352 73556353 73556353 exon -39 0.577777777777778 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCACTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 32 20 0.981799517249143 0.992781627766246 0.987290572507694 758 1291 0.935472718044562 0.957463902879812 0.946468310462187 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.0102063107564629 0.00619723223957958 0.0586754373527517 -0.0262636838687703 0.989295111766136 0.930262433720197 -0.00200453925844168 0.0162058767419907 0.0182104160004324 FALSE FALSE 0 -3.444 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 1 tolerated(0.65) benign(0.001) NA CGC G,A 2.481e-05 15:73556353 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant -1.176121 0.12049 0.00532 0.568482 0.788413126314193 0 NA NA 2.44513e-05 ENSE00001308393_024 ENSE00001308393 024 15 73848598 73848767 + 45 90 35 G A 73848703 1798 106 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACAGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556361 73556362 73556362 exon -30 0.677777777777778 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACAGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 167 190 0.865045153911591 0.870352860215957 0.867699007063774 2590 1219 0.951859718680636 0.904550476161974 0.928205097421305 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.126960674094015 -0.116231535310709 0.0750624379888253 -0.0791771105866089 0.989295111766136 0.930262433720197 -0.121596104702362 -0.00205733629889182 0.11953876840347 FALSE FALSE 0.033 0.936 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 rs373443142 1 tolerated(0.06) benign(0.048) NA A:0.001 A:0 CGG G,A 5.788e-05 15:73556362 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 1.63243 0.24504 0.12031 0.568482 0.919288006707347 0 NA NA 6.92893e-05 ENSE00001308393_025 ENSE00001308393 025 15 73848598 73848767 + 45 90 35 A G 73848705 1799 108 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGGAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556363 73556364 73556364 exon -28 0.7 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGGAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 65 30 1 1 1 2071 2268 0.900256825582731 0.99637936786238 0.948318096722556 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00799417199439423 0.013415604473334 0.0234595448909208 0.0126517811137971 0.989295111766136 0.930262433720197 0.0107048882338641 0.0180556630023589 0.00735077476849483 FALSE FALSE 0.297 0.466 . synonymous_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/6 rs376531219 1 NA G:0.0002 G:0 GAA A,G 2.48e-05 15:73556364 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 synonymous_variant -0.312223 0.18562 0.10438 0.568482 0.566166166764537 0 NA NA 1.22261e-05 ENSE00001308393_026 ENSE00001308393 026 15 73848598 73848767 + 45 90 35 A C 73848706 1800 109 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGACGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556364 73556365 73556365 exon -27 0.711111111111111 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGACGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 2284 629 0.997571792734169 0.999496798507669 0.998534295620919 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.120774512042359 0.0157692117590862 0.989295111766136 0.930262433720197 NA 0.0682718619007224 NA FALSE NA 0.808 2.623 . synonymous_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/6 1 NA AAG A,C 8.268e-06 15:73556365 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 synonymous_variant -0.803086 0.29296 0.51572 0.568482 0.634352600843968 0 NA NA 4.07571e-06 ENSE00001308393_027 ENSE00001308393 027 15 73848598 73848767 + 45 90 35 C T 73848710 1801 113 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGATCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556368 73556369 73556369 exon -23 0.755555555555556 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGATCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 260 456 0.847888942570391 0.85 0.848944471285196 424 1156 0.825098329874579 0.800437380933192 0.812767855403886 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.144116885435214 -0.136584395526666 -0.0516989508172311 -0.183290205815391 0.989295111766136 0.930262433720197 -0.14035064048094 -0.117494578316311 0.0228560621646294 FALSE FALSE 0.024 -0.007 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 1 tolerated(0.65) benign(0.034) NA ACC C,T 8.268e-06 15:73556369 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 0.131778 0.20219 0.02553 0.568482 0.740323590351236 0 NA NA 4.07687e-06 ENSE00001308393_028 ENSE00001308393 028 15 73848598 73848767 + 45 90 35 C T 73848719 1802 122 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGATGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556377 73556378 73556378 exon -14 0.855555555555556 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGATGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 16 14 0.997682361817673 0.968011745587561 0.982847053702617 861 2082 0.834013603999144 0.998708833726947 0.916361218863045 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.0056765338120669 -0.0185726499391052 -0.0427836766926663 0.0149812469783641 0.989295111766136 0.930262433720197 -0.00644805806351917 -0.0139012148571511 0.0074531567936319 FALSE FALSE 0 -0.339 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 COSM294186 1 tolerated(0.14) benign(0.102) NA ACG C,T 0.0002564 15:73556378 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 1.726154 0.16575 0.02373 0.568482 0.910979782274834 0 NA NA 0.000212153 ENSE00001308393_029 ENSE00001308393 029 15 73848598 73848767 + 45 90 35 A T 73848722 1803 125 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCTGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556380 73556381 73556381 exon -11 0.888888888888889 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCTGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 1326 855 1 0.999149783605739 0.999574891802869 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.12320271930819 0.0154221968571558 0.989295111766136 0.930262433720197 NA 0.0693124580826727 NA FALSE NA 0.001 0.135 . missense_variant MODERATE C15orf60 HGNC 25065 ENST00000331090 5/6 1 tolerated(0.08) benign(0.168) NA CAG A,T 1.654e-05 15:73556381 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 missense_variant 1.559483 0.17268 0.05167 0.568482 0.871634453860667 0 NA NA 8.16807e-06 ENSE00001308393_030 ENSE00001308393 030 15 73848598 73848767 + 45 90 35 G A 73848732 1804 135 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAAGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556390 73556391 73556391 exon -1 1 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAAGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 299 108 0 0 0 761 832 0.000643135851637985 0.0281538820349357 0.0143985089432869 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.992005828005606 -0.986584395526666 -0.876154144840172 -0.955573704713647 0.989295111766136 0.930262433720197 -0.989295111766136 -0.91586392477691 0.0734311869892262 TRUE TRUE 1 4.367 . splice_region_variant&synonymous_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/6 1 NA AGG G,A 8.273e-06 15:73556391 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 splice_region_variant 0.797185 0.98404 0.9643 0.428477 0.885034333201435 0 NA NA NA ENSE00001308393_031 ENSE00001308393 031 15 73848598 73848767 + 45 90 35 G A 73848738 1805 141 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAACTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556396 73556397 73556397 downstr_intron 6 1.17647058823529 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAACTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 11 17 1 0.979613904252383 0.989806952126192 NA NA NA NA NA 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00799417199439423 -0.00697049127428262 NA NA 0.989295111766136 0.930262433720197 0.000511840360055804 NA NA NA FALSE 0 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:73556397 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 splice_region_variant -0.124436 0.17697 0.0484 0.069865 0.81434113108967 0.0983901 NA NA NA ENSE00001308393_032 ENSE00001308393 032 15 73848598 73848767 + 45 90 35 G T 73848738 1806 141 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGATCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556396 73556397 73556397 downstr_intron 6 1.17647058823529 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGATCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 18 26 1 0.995109300986468 0.997554650493234 360 249 0.994260358673366 1 0.997130179336683 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00799417199439423 0.00852490545980233 0.117463077981556 0.0162724132514173 0.989295111766136 0.930262433720197 0.00825953872709828 0.0668677456164866 0.0586082068893883 FALSE FALSE 0 0.091 NA NA NA C15orf60 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REC114 NA NA NA ENSG00000183324 ENSE00001308393 splice_region_variant -0.225129 0.1874 0.09497 0.069865 0.76469981124714 0.0983901 NA NA 1.24162e-05 ENSE00001308393_033 ENSE00001308393 033 15 73848598 73848767 + 45 90 35 C T 73848739 1807 142 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGTTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556397 73556398 73556398 downstr_intron 7 1.20588235294118 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGTTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 67 50 0.993355270689791 0.999313763046819 0.996334516868305 3262 2649 0.998526722414376 0.998897728254749 0.998712225334562 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00134944268418535 0.0127293675201525 0.121729441722565 0.0151701415061661 0.989295111766136 0.930262433720197 0.00703940510216894 0.0684497916143657 0.0614103865121968 FALSE FALSE 0 0.5 . splice_region_variant&intron_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/5 1 NA GCT C,T 8.274e-06 15:73556398 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 splice_region_variant 0.377047 0.19338 0.09098 0.069865 0.757866458856224 0.0989115 NA NA 4.14151e-06 ENSE00001308393_034 ENSE00001308393 034 15 73848598 73848767 + 45 90 35 T G 73848740 1808 143 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCGTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556398 73556399 73556399 downstr_intron 8 1.23529411764706 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCGTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant NA NA NA NA NA 669 725 0.999383223028199 0.977537705340336 0.988460464184268 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 NA NA 0.122585942336389 -0.00618988140824694 0.989295111766136 0.930262433720197 NA 0.058198030464071 NA FALSE NA 0 0.058 . splice_region_variant&intron_variant LOW C15orf60 HGNC 25065 ENST00000331090 5/5 1 NA CTT T,G 1.655e-05 15:73556399 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 splice_region_variant 0.088012 0.26949 0.03634 0.069865 0.641455249006277 0.087463 NA NA 1.25137e-05 ENSE00001308393_035 ENSE00001308393 035 15 73848598 73848767 + 45 90 35 A G 73848742 1809 145 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTGTTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 73556400 73556401 73556401 downstr_intron 10 1.29411764705882 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTGTTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 19 19 1 1 1 311 574 1 0.999200397608519 0.99960019880426 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 0.00799417199439423 0.013415604473334 0.12320271930819 0.0154728108599363 0.989295111766136 0.930262433720197 0.0107048882338641 0.069337765084063 0.0586328768501989 FALSE FALSE 0 -1.018 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 5/5 1 NA TAT A,G 1.655e-05 15:73556401 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant 0.176837 0.14721 0.0092 0.069865 0.547072031892356 0.0448725 NA NA 8.33257e-06 ENSE00001308393_036 ENSE00001308393 036 15 73848598 73848767 + 45 90 35 A G 73848755 1810 158 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAGTTTTCTTGTCAT 73556256 73556426 73556413 73556414 73556414 downstr_intron 23 1.67647058823529 GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAGTTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT mutant 45 28 0.85 0.92853419874364 0.88926709937182 NA NA NA NA NA 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.142005828005606 -0.0580501967830265 NA NA 0.989295111766136 0.930262433720197 -0.100028012394316 NA NA NA FALSE 0 -0.617 . intron_variant MODIFIER C15orf60 HGNC 25065 ENST00000331090 5/5 rs370984609 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 G:0 G:0.0015 AAT A,G 0.0009683 15:73556414 REC114 HGNC Symbol protein_coding 116856 ENSG00000183324 ENSE00001308393 intron_variant 0.069027 0.116 0.00132 0.062308 0.510878416757466 0.0455939 NA NA 0.00103069 ENSE00001308393_BRK ENSE00001308393 BRK 15 73848598 73848767 + 45 90 35 A,G; T,T NA NA NA GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCTTTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGCCAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT 73556256 73556426 NA NA NA NA NA NA GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCTTTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGCCAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT GATTACATTCAGCTAGTCTCCTTATTGCATGTTGTTTTATTCCAGTCCCACCAGCACTCAGAACAACAGCAAGTGTGTGTAACAGCGGGCACAGGCGCTCCAGACGGAAGGACCTCACTGACGCAGTTAGCTCAGGTAGAGCTTATTTCTGTGTTCAATTTTCTTGTCAT control 390 226 0 0.0261375291685119 0.013068764584256 NA NA NA NA NA 0.992005828005606 0.986584395526666 0.87679728069181 0.983727586748583 -0.992005828005606 -0.960446866358154 NA NA 0.989295111766136 0.930262433720197 -0.97622634718188 NA NA NA TRUE NA NA NA NA NA C15orf60 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REC114 NA NA NA ENSG00000183324 ENSE00001308393 NA NA NA NA NA NA NA NA NA NA ENSE00001308781_000 ENSE00001308781 000 8 139767347 139767516 - 53 54 63 NA NA NA NA NA TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 NA NA NA NA NA NA TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT natural 22 44 1 1 1 1526 1560 0.96560682378428 0.993524320951189 0.979565572367735 1 1 0.96560682378428 0.993524320951189 0 0 0 0 1 0.979565572367735 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001308781 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001308781_001 ENSE00001308781 001 8 139767347 139767516 - 53 54 63 G A 139767357 2811 160 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTTTCTTACCAAT 138755103 138755273 138755113 138755114 138755114 downstr_intron 43 1.82692307692308 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTTTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 124 60 1 0.997354915977435 0.998677457988718 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00383059502624583 1 0.979565572367735 NA 0.0191118856209827 NA FALSE NA 0 -0.245 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA AGA G,A 8.236e-05 8:138755114 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.07357 0.1427 0.02577 0.061011 0.834898780477793 0.0436289 8.25832618148535e-32 FALSE 7.76696e-05 ENSE00001308781_002 ENSE00001308781 002 8 139767347 139767516 - 53 54 63 C T 139767361 2812 156 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACACTTCTCTTACCAAT 138755103 138755273 138755117 138755118 138755118 downstr_intron 39 1.75 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACACTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 738 459 0.920272401550699 1 0.96013620077535 1 1 0.96560682378428 0.993524320951189 NA NA -0.0453344222335814 0.00647567904881075 1 0.979565572367735 NA -0.0194293715923853 NA FALSE NA 0 -0.262 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 rs376061474 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0.0002 GCG T,T 0.0001153 8:138755118 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.195725 0.06871 0.00019 0.061011 0.684079918167074 0.0436289 8.25832618148535e-32 FALSE 0.000106294 ENSE00001308781_003 ENSE00001308781 003 8 139767347 139767516 - 53 54 63 G A 139767362 2813 155 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCATGCTTCTCTTACCAAT 138755103 138755273 138755118 138755119 138755119 downstr_intron 38 1.73076923076923 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCATGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 205 224 1 1 1 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00647567904881075 1 0.979565572367735 NA 0.0204344276322652 NA FALSE NA 0.001 0.578 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA CGT G,A 4.118e-05 8:138755119 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.075956 0.14595 0.03564 0.061011 0.740575088383974 0.0436289 8.25832618148535e-32 FALSE 4.47945e-05 ENSE00001308781_004 ENSE00001308781 004 8 139767347 139767516 - 53 54 63 G T 139767367 2814 150 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTATGCACGCTTCTCTTACCAAT 138755103 138755273 138755123 138755124 138755124 downstr_intron 33 1.63461538461538 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTATGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 129 254 0.999680544396457 1 0.999840272198228 1 1 0.96560682378428 0.993524320951189 NA NA 0.0340737206121765 0.00647567904881075 1 0.979565572367735 NA 0.0202746998304936 NA FALSE NA 0 0.133 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA AGA G,T 8.236e-06 8:138755124 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.036426 0.18885 0.0724 0.061011 0.777545861581974 0.0436289 8.25832618148535e-32 FALSE 4.06659e-06 ENSE00001308781_005 ENSE00001308781 005 8 139767347 139767516 - 53 54 63 A G 139767368 2815 149 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCCCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755124 138755125 138755125 downstr_intron 32 1.61538461538462 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCCCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 43 424 1 0.993890578265772 0.996945289132886 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00036625731458273 1 0.979565572367735 NA 0.0173797167651512 NA FALSE NA 0 0.342 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA GAG A,G 8.236e-06 8:138755125 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.138809 0.17885 0.0062 0.061011 0.625101922534832 0.0436289 8.25832618148535e-32 FALSE 8.13147e-06 ENSE00001308781_006 ENSE00001308781 006 8 139767347 139767516 - 53 54 63 C A 139767375 2816 142 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGTGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755131 138755132 138755132 downstr_intron 25 1.48076923076923 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGTGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 61 568 0.977831670471924 1 0.988915835235962 1 1 0.96560682378428 0.993524320951189 NA NA 0.0122248466876432 0.00647567904881075 1 0.979565572367735 NA 0.00935026286822699 NA FALSE NA 0 0.373 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA CCC C,A 2.471e-05 8:138755132 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.469554 0.2343 0.01302 0.061011 0.780862442744942 0.0436289 8.25832618148535e-32 FALSE 3.25179e-05 ENSE00001308781_007 ENSE00001308781 007 8 139767347 139767516 - 53 54 63 T C 139767377 2817 140 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCGGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755133 138755134 138755134 downstr_intron 23 1.44230769230769 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCGGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 406 77 1 1 1 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00647567904881075 1 0.979565572367735 NA 0.0204344276322652 NA FALSE NA 0 -1.655 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA CTG T,C 1.647e-05 8:138755134 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.130704 0.13039 0.00793 0.061011 0.497889427329821 0.0436289 8.25832618148535e-32 FALSE 8.12744e-06 ENSE00001308781_008 ENSE00001308781 008 8 139767347 139767516 - 53 54 63 C T 139767379 2818 138 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCACAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755135 138755136 138755136 downstr_intron 21 1.40384615384615 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCACAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 171 191 0.989957882565605 1 0.994978941282803 1 1 0.96560682378428 0.993524320951189 NA NA 0.0243510587813245 0.00647567904881075 1 0.979565572367735 NA 0.0154133689150676 NA FALSE NA 0 -1.323 rs75275589 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 rs75275589 1 T:0.0753 T:0.0507 T:0.0389 NA T:0.2272 T:0.007 T:0.0481 T:0.0443 T:0.0038 GCG C,T 0.036 8:138755136 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant -0.552384 0.11508 0.00428 0.061011 0.737286586979769 0.0436289 8.25832618148535e-32 FALSE 0.0376284 ENSE00001308781_009 ENSE00001308781 009 8 139767347 139767516 - 53 54 63 G T 139767380 2819 137 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGAGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755136 138755137 138755137 downstr_intron 20 1.38461538461538 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGAGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 100 355 1 1 1 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00647567904881075 1 0.979565572367735 NA 0.0204344276322652 NA FALSE NA 0 -0.415 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138755137 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant -0.340256 0.24062 0.07682 0.061011 0.407347646953922 0.0436289 8.25832618148535e-32 FALSE 6.90698e-05 ENSE00001308781_010 ENSE00001308781 010 8 139767347 139767516 - 53 54 63 G A 139767380 2820 137 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGTGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755136 138755137 138755137 downstr_intron 20 1.38461538461538 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGTGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 477 2470 0.995723033110603 0.965133421510902 0.980428227310753 1 1 0.96560682378428 0.993524320951189 NA NA 0.0301162093263226 -0.0283908994402871 1 0.979565572367735 NA 0.000862654943017793 NA FALSE NA 0 -0.415 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001308781 intron_variant -0.147598 0.20783 0.01323 0.061011 0.405940663339232 0.0436289 8.25832618148535e-32 FALSE 1.21888e-05 ENSE00001308781_011 ENSE00001308781 011 8 139767347 139767516 - 53 54 63 C G 139767381 2821 136 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTCCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755137 138755138 138755138 downstr_intron 19 1.36538461538462 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTCCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 203 202 1 1 1 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00647567904881075 1 0.979565572367735 NA 0.0204344276322652 NA FALSE NA 0 -1.528 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138755138 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant -0.199781 0.20426 0.04071 0.061011 0.329552679540789 0.0436289 8.25832618148535e-32 FALSE 2.4377e-05 ENSE00001308781_013 ENSE00001308781 013 8 139767347 139767516 - 53 54 63 G A 139767388 2823 129 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCTTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755144 138755145 138755145 downstr_intron 12 1.23076923076923 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCTTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 84 302 0.956258467875472 1 0.978129233937736 1 1 0.96560682378428 0.993524320951189 NA NA -0.00934835590880811 0.00647567904881075 1 0.979565572367735 NA -0.00143633842999868 NA FALSE NA 0.002 0.709 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA AGG G,A 8.236e-06 8:138755145 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.168271 0.23782 0.1031 0.061011 0.647081676009118 0.050703 8.25832618148535e-32 FALSE 4.06174e-06 ENSE00001308781_014 ENSE00001308781 014 8 139767347 139767516 - 53 54 63 G T 139767389 2824 128 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCACTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755145 138755146 138755146 downstr_intron 11 1.21153846153846 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCACTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 349 160 0.976417478067317 1 0.988208739033659 1 1 0.96560682378428 0.993524320951189 NA NA 0.010810654283037 0.00647567904881075 1 0.979565572367735 NA 0.00864316666592385 NA FALSE NA 0.001 0.084 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA GGG G,T 0.0001894 8:138755146 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.012386 0.20401 0.04843 0.061011 0.543479398302085 0.050703 8.25832618148535e-32 FALSE 0.000219341 ENSE00001308781_016 ENSE00001308781 016 8 139767347 139767516 - 53 54 63 C A 139767395 2826 122 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAATTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755151 138755152 138755152 downstr_intron 5 1.09615384615385 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAATTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 396 235 0 0 0 1 1 0.96560682378428 0.993524320951189 NA NA -0.96560682378428 -0.993524320951189 1 0.979565572367735 NA -0.979565572367735 NA TRUE NA 0.987 1.94 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA ACT C,A 9.884e-05 8:138755152 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 splice_region_variant 1.019765 0.96771 0.8179 0.061011 0.637126379359798 0.202006 8.25832618148535e-32 FALSE 0.000199017 ENSE00001308781_017 ENSE00001308781 017 8 139767347 139767516 - 53 54 63 C T 139767399 2827 118 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGATAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755155 138755156 138755156 downstr_intron 1 1.01923076923077 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGATAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 20 366 0 0.00301042352439409 0.00150521176219705 1 1 0.96560682378428 0.993524320951189 NA NA -0.96560682378428 -0.990513897426795 1 0.979565572367735 NA -0.978060360605538 NA TRUE NA 0.989 3.34 . splice_donor_variant HIGH COL22A1 HGNC 22989 ENST00000303045 21/64 1 NA HC ACC C,T 8.236e-06 8:138755156 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 splice_donor_variant 3.877675 0.98591 0.89127 0.061011 0.983157571078031 0.968855 8.25832618148535e-32 FALSE 4.06141e-06 ENSE00001308781_019 ENSE00001308781 019 8 139767347 139767516 - 53 54 63 C T 139767401 2829 116 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCAGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755157 138755158 138755158 exon -2 0.981481481481482 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCAGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 531 82 0.994901364996791 1 0.997450682498396 1 1 0.96560682378428 0.993524320951189 NA NA 0.0292945412125106 0.00647567904881075 1 0.979565572367735 NA 0.0178851101306607 NA FALSE NA 0.954 1.317 . missense_variant&splice_region_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 21/65 rs532799286&COSM1096566 1 unknown(0) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG G,T 3.295e-05 8:138755158 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 missense_variant 3.147689 0.97186 0.44655 0.638212 0.978909706628996 0 8.25832618148535e-32 FALSE 4.06157e-05 ENSE00001308781_020 ENSE00001308781 020 8 139767347 139767516 - 53 54 63 G A 139767402 2830 115 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTTGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755158 138755159 138755159 exon -3 0.962962962962963 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTTGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 599 261 1 0.872311967141974 0.936155983570987 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 -0.121212353809215 1 0.979565572367735 NA -0.0434095887967478 NA FALSE NA 1 4.227 rs180963656 missense_variant&splice_region_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 21/65 rs180963656&COSM3768708 1 unknown(0) A:0.0028 A:0 A:0 NA A:0.0079 A:0 A:0.0061 CGA G,A 0.0009554 8:138755159 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 missense_variant 2.822789 0.96565 0.87171 0.638212 0.996222848223493 0 8.25832618148535e-32 FALSE 0.00106411 ENSE00001308781_023 ENSE00001308781 023 8 139767347 139767516 - 53 54 63 C T 139767417 2833 100 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCAGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755173 138755174 138755174 exon -18 0.685185185185185 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCAGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 90 292 1 0.995991702132179 0.99799585106609 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00246738118099021 1 0.979565572367735 NA 0.0184302786983549 NA FALSE NA 1 3.34 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 21/65 COSM1455097 1 unknown(0) NA CCG C,T 7.413e-05 8:138755174 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 missense_variant 2.990908 0.98198 0.86974 0.553676 0.998487941549201 0 8.25832618148535e-32 FALSE 3.65577e-05 ENSE00001308781_024 ENSE00001308781 024 8 139767347 139767516 - 53 54 63 G A 139767418 2834 99 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCTGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755174 138755175 138755175 exon -19 0.666666666666667 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCTGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 229 166 0.987501905584579 0.970684387609904 0.979093146597241 1 1 0.96560682378428 0.993524320951189 NA NA 0.0218950818002985 -0.0228399333412856 1 0.979565572367735 NA -0.000472425770493556 NA FALSE NA 0.99 0.002 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 21/65 1 NA CGG G,A 1.647e-05 8:138755175 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 synonymous_variant 0.576571 0.88974 0.0269 0.553676 0.509021444653239 0 8.25832618148535e-32 FALSE 2.03156e-05 ENSE00001308781_025 ENSE00001308781 025 8 139767347 139767516 - 53 54 63 G C 139767419 2835 98 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCGCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755175 138755176 138755176 exon -20 0.648148148148148 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCGCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 138 112 1 1 1 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00647567904881075 1 0.979565572367735 NA 0.0204344276322652 NA FALSE NA 1 4.227 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 21/65 1 unknown(0) NA GGG G,C 8.236e-06 8:138755176 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 missense_variant 1.568537 0.98301 0.91897 0.553676 0.986537506262709 0 8.25832618148535e-32 FALSE NA ENSE00001308781_026 ENSE00001308781 026 8 139767347 139767516 - 53 54 63 C T 139767423 2836 94 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCACCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755179 138755180 138755180 exon -24 0.574074074074074 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCACCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 342 563 0.996848477914113 0.999116375967279 0.997982426940696 1 1 0.96560682378428 0.993524320951189 NA NA 0.0312416541298328 0.00559205501609006 1 0.979565572367735 NA 0.0184168545729614 NA FALSE NA 1 1.926 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138755180 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 missense_variant 2.886115 0.92619 0.42929 0.553676 0.91726864223514 0 8.25832618148535e-32 FALSE 2.84292e-05 ENSE00001308781_027 ENSE00001308781 027 8 139767347 139767516 - 53 54 63 C A 139767423 2837 94 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCTCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755179 138755180 138755180 exon -24 0.574074074074074 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCTCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 556 939 1 0.999959460774685 0.999979730387343 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00643513982349597 1 0.979565572367735 NA 0.0204141580196078 NA FALSE NA 1 1.926 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001308781 missense_variant 2.468998 0.9233 0.37275 0.553676 0.732962398935268 0 8.25832618148535e-32 FALSE 4.06131e-06 ENSE00001308781_028 ENSE00001308781 028 8 139767347 139767516 - 53 54 63 G A 139767424 2838 93 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGTGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755180 138755181 138755181 exon -25 0.555555555555556 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGTGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 397 65 0.8 0.8 0.8 1 1 0.96560682378428 0.993524320951189 NA NA -0.16560682378428 -0.193524320951189 1 0.979565572367735 NA -0.179565572367735 NA FALSE NA 1 0.27 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 21/65 rs374834834&COSM382562 1 NA A:0 A:0.0001 CGC G,A 4.118e-05 8:138755181 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 synonymous_variant 0.590943 0.56574 0.35512 0.553676 0.543145553956792 0 8.25832618148535e-32 FALSE 6.49794e-05 ENSE00001308781_030 ENSE00001308781 030 8 139767347 139767516 - 53 54 63 C T 139767450 2840 67 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAACTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755206 138755207 138755207 exon 4 0.0740740740740741 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAACTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 112 209 0.879240309819057 0.999268298018039 0.939254303918548 1 1 0.96560682378428 0.993524320951189 NA NA -0.0863665139652237 0.00574397706684948 1 0.979565572367735 NA -0.0403112684491871 NA FALSE NA 1 1.983 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 21/65 1 unknown(0) NA GCT C,T 4.118e-05 8:138755207 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 missense_variant 2.637021 0.96484 0.71499 0.553676 0.995376877820798 0 8.25832618148535e-32 FALSE 5.27992e-05 ENSE00001308781_032 ENSE00001308781 032 8 139767347 139767516 - 53 54 63 C T 139767472 2842 45 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTATTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755228 138755229 138755229 upstr_intron -19 -0.285714285714286 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTATTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 120 513 1 0.997360527048306 0.998680263524153 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00383620609711666 1 0.979565572367735 NA 0.0191146911564181 NA FALSE NA 0 -0.853 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 20/64 1 NA ACA C,T 8.236e-06 8:138755229 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant -0.128621 0.20578 0.03707 0.061011 0.534075941009514 0.166794 8.25832618148535e-32 FALSE NA ENSE00001308781_033 ENSE00001308781 033 8 139767347 139767516 - 53 54 63 T C 139767476 2843 41 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACGTCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755232 138755233 138755233 upstr_intron -23 -0.349206349206349 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACGTCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 980 464 0.95647190123721 0.977537705340336 0.967004803288773 1 1 0.96560682378428 0.993524320951189 NA NA -0.00913492254707016 -0.0159866156108537 1 0.979565572367735 NA -0.0125607690789619 NA FALSE NA 0 -2.349 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 20/64 1 NA ATG T,C 8.236e-06 8:138755233 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.000298 0.07859 0.00077 0.061011 0.300301869853809 0.0833861 8.25832618148535e-32 FALSE 4.06712e-06 ENSE00001308781_035 ENSE00001308781 035 8 139767347 139767516 - 53 54 63 T A 139767478 2845 39 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAATCATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755234 138755235 138755235 upstr_intron -25 -0.380952380952381 TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAATCATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 605 284 1 1 1 1 1 0.96560682378428 0.993524320951189 NA NA 0.0343931762157196 0.00647567904881075 1 0.979565572367735 NA 0.0204344276322652 NA FALSE NA 0.022 -0.46 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 20/64 1 NA GTT T,A 8.236e-06 8:138755235 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.067439 0.18708 0.04664 0.061011 0.213453810296492 0.133135 8.25832618148535e-32 FALSE 4.06795e-06 ENSE00001308781_036 ENSE00001308781 036 8 139767347 139767516 - 53 54 63 C T 139767494 2846 23 TGGTGGGCCTGATCATATGGGGAAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 138755250 138755251 138755251 upstr_intron -41 -0.634920634920635 TGGTGGGCCTGATCATATGGGGAAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT mutant NA NA NA NA NA 58 80 0.994181694925457 1 0.997090847462729 1 1 0.96560682378428 0.993524320951189 NA NA 0.0285748711411771 0.00647567904881075 1 0.979565572367735 NA 0.0175252750949939 NA FALSE NA 0 -1.178 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 20/64 1 NA TCC C,T 1.647e-05 8:138755251 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001308781 intron_variant 0.294678 0.13125 0.00767 0.061011 0.799638618122651 0.0833861 8.25832618148535e-32 FALSE 1.63308e-05 ENSE00001308781_BRK ENSE00001308781 BRK 8 139767347 139767516 - 53 54 63 A,G; T,T NA NA NA TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCTTGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGCCAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT 138755103 138755273 NA NA NA NA NA NA TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCTTGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGCCAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT TGGTGGGCCTGATCATATGGGGGAAAAGTCATGACTAAACATCTGTTTGGCTTGTGTTACCAGGGAGCTCCAGGACCCAGAGGTCACCAAGGCGCCCCCGGTCCTCCAGGAGCTCGGGTAAGTTGTCCCTCTCCTGCGCAGGGTTTGCTCTGCACGCTTCTCTTACCAAT control 16 39 0 0 0 NA NA NA NA NA 1 1 0.96560682378428 0.993524320951189 -1 -1 NA NA 1 0.979565572367735 -1 NA NA NA TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001308781 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001308964_000 ENSE00001308964 000 X 70352928 70353097 + 45 90 35 NA NA NA NA NA CCCTCTTCCTTCTTCTCCCCAGCTGGCCTTCTCACCAGGTTGAGCCGCAGTTTGAGTGCCTCATGCATAAGCTGCTTTGGTTTGCAATCATCTAAGTACTGGTCATCTCGCCAATTATTCACAATCTAGAATAGAAACAAATAAAATATGCAGCTCAGGGATCTTCGTGT 71133077 71133247 NA NA NA NA NA NA ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG natural 98 110 0.95461125901519 0.958004416195593 0.956307837605392 3580 3052 0.950318389086238 0.896769364470591 0.923543876778415 0.95461125901519 0.958004416195593 0.950318389086238 0.896769364470591 0 0 0 0 0.956307837605392 0.923543876778415 0 0 0 FALSE FALSE NA NA NA NA NA MED12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED12 NA NA NA ENSG00000184634 ENSE00001308964 NA NA NA NA NA NA NA 0.999999998786565 TRUE NA ENSE00001308964_001 ENSE00001308964 001 X 70352928 70353097 + 45 90 35 T C 70352952 643 25 CCCTCTTCCTTCTTCTCCCCAGCTGGCCTTCTCACCAGGTTGAGCCGCAGTTTGAGTGCCTCATGCATAAGCTGCTTTGGTTTGCAATCATCTAAGTACTGGTCATCTCGCCAATTATTCACAATCTAGAATAGAAACAAATAAAGTATGCAGCTCAGGGATCTTCGTGT 71133077 71133247 71133101 71133102 71133102 upstr_intron -21 -0.444444444444444 ACACGAAGATCCCTGAGCTGCATACTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG mutant NA NA NA NA NA 133 32 0.971909817260075 0.987147943263096 0.979528880261586 0.95461125901519 0.958004416195593 0.950318389086238 0.896769364470591 NA NA 0.0215914281738376 0.0903785787925042 0.956307837605392 0.923543876778415 NA 0.0559850034831709 NA FALSE NA 0.005 0.524 rs73634862 intron_variant MODIFIER MED12 HGNC 11957 ENST00000374102 32/44 rs73634862 1 C:0.0212 C:0 NA C:0 C:0 C:0 C:0.0166 C:0 ATT T,C 0.001556 X:71133102 MED12 HGNC Symbol protein_coding 23898 ENSG00000184634 ENSE00001308964 intron_variant 0.361599 0.21336 0.12594 0 0.705373172150729 0.0708573 0.999999998786565 TRUE 0.00142527 ENSE00001308964_004 ENSE00001308964 004 X 70352928 70353097 + 45 90 35 G A 70353065 646 138 CCCTCTTCCTTCTTCTCCCCAGCTGGCCTTCTTACCAGGTTGAGCCGCAGTTTGAGTGCCTCATGCATAAGCTGCTTTGGTTTGCAATCATCTAAGTACTGGTCATCTCGCCAATTATTCACAATCTAGAATAGAAACAAATAAAATATGCAGCTCAGGGATCTTCGTGT 71133077 71133247 71133214 71133215 71133215 downstr_intron 3 1.08823529411765 ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTAAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG mutant NA NA NA NA NA 275 75 0.987544708617159 1 0.993772354308579 0.95461125901519 0.958004416195593 0.950318389086238 0.896769364470591 NA NA 0.0372263195309211 0.103230635529409 0.956307837605392 0.923543876778415 NA 0.0702284775301649 NA FALSE NA 1 1.213 . splice_region_variant&intron_variant LOW MED12 HGNC 11957 ENST00000374102 33/44 1 NA TGA G,A 1.655e-05 X:71133215 MED12 HGNC Symbol protein_coding 23898 ENSG00000184634 ENSE00001308964 splice_region_variant 1.895135 0.96137 0.60753 0 0.861329763240885 0.52677 0.999999998786565 TRUE 1.12465e-05 ENSE00001308964_006 ENSE00001308964 006 X 70352928 70353097 + 45 90 35 G C 70353075 648 148 CCCTCTTCCTTCTTCTCCCCAGGTGGCCTTCTCACCAGGTTGAGCCGCAGTTTGAGTGCCTCATGCATAAGCTGCTTTGGTTTGCAATCATCTAAGTACTGGTCATCTCGCCAATTATTCACAATCTAGAATAGAAACAAATAAAATATGCAGCTCAGGGATCTTCGTGT 71133077 71133247 71133224 71133225 71133225 downstr_intron 13 1.38235294117647 ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCACCTGGGGAGAAGAAGGAAGAGGG ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG mutant NA NA NA NA NA 372 181 1 1 1 0.95461125901519 0.958004416195593 0.950318389086238 0.896769364470591 NA NA 0.0496816109137622 0.103230635529409 0.956307837605392 0.923543876778415 NA 0.0764561232215854 NA FALSE NA 0.004 1.236 . intron_variant MODIFIER MED12 HGNC 11957 ENST00000374102 33/44 1 NA AGC G,C 8.274e-06 X:71133225 MED12 HGNC Symbol protein_coding 23898 ENSG00000184634 ENSE00001308964 intron_variant 1.443251 0.28261 0.38064 0 0.790339595607713 0.132075 0.999999998786565 TRUE 5.63307e-06 ENSE00001308964_007 ENSE00001308964 007 X 70352928 70353097 + 45 90 35 G T 70353078 649 151 CCCTCTTCCTTCTTCTCCCAAGCTGGCCTTCTCACCAGGTTGAGCCGCAGTTTGAGTGCCTCATGCATAAGCTGCTTTGGTTTGCAATCATCTAAGTACTGGTCATCTCGCCAATTATTCACAATCTAGAATAGAAACAAATAAAATATGCAGCTCAGGGATCTTCGTGT 71133077 71133247 71133227 71133228 71133228 downstr_intron 16 1.47058823529412 ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTTGGGAGAAGAAGGAAGAGGG ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG mutant NA NA NA NA NA 129 228 0.928894632009727 0.9977435666914 0.963319099350564 0.95461125901519 0.958004416195593 0.950318389086238 0.896769364470591 NA NA -0.0214237570765108 0.100974202220809 0.956307837605392 0.923543876778415 NA 0.0397752225721489 NA FALSE NA 0.003 1.214 . intron_variant MODIFIER MED12 HGNC 11957 ENST00000374102 33/44 1 NA TGG G,T 1.655e-05 X:71133228 MED12 HGNC Symbol protein_coding 23898 ENSG00000184634 ENSE00001308964 intron_variant 1.047808 0.14667 0.17934 0 0.829093500639493 0.132075 0.999999998786565 TRUE NA ENSE00001308964_008 ENSE00001308964 008 X 70352928 70353097 + 45 90 35 G A 70353081 650 154 CCCTCTTCCTTCTTCTTCCCAGCTGGCCTTCTCACCAGGTTGAGCCGCAGTTTGAGTGCCTCATGCATAAGCTGCTTTGGTTTGCAATCATCTAAGTACTGGTCATCTCGCCAATTATTCACAATCTAGAATAGAAACAAATAAAATATGCAGCTCAGGGATCTTCGTGT 71133077 71133247 71133230 71133231 71133231 downstr_intron 19 1.55882352941176 ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGAAGAAGAAGGAAGAGGG ACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGG mutant NA NA NA NA NA 23 165 1 0.999040288542755 0.999520144271377 0.95461125901519 0.958004416195593 0.950318389086238 0.896769364470591 NA NA 0.0496816109137622 0.102270924072163 0.956307837605392 0.923543876778415 NA 0.0759762674929627 NA FALSE NA 0 -0.602 . intron_variant MODIFIER MED12 HGNC 11957 ENST00000374102 33/44 1 NA GGA G,A 8.274e-06 X:71133231 MED12 HGNC Symbol protein_coding 23898 ENSG00000184634 ENSE00001308964 intron_variant 1.527976 0.11996 0.02335 0 0.839074118168635 0.132075 0.999999998786565 TRUE 5.64283e-06 ENSE00001309412_000 ENSE00001309412 000 6 165712882 165713051 - 50 60 60 NA NA NA NA NA AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 NA NA NA NA NA NA AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT natural 109 93 0.918081671992289 0.778784956364028 0.848433314178158 1464 768 0.910161860177596 0.807450503841197 0.858806182009397 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 0 0 0 0 0.848433314178158 0.858806182009397 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C6orf118 NA NA NA ENSG00000112539 ENSE00001309412 NA NA NA NA NA NA NA 1.45572025749264e-17 FALSE NA ENSE00001309412_002 ENSE00001309412 002 6 165712882 165713051 - 50 60 60 C G 165712896 2757 156 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTCCTTATCCATAGCTT 165299392 165299562 165299406 165299407 165299407 downstr_intron 36 1.73469387755102 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTCCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 116 44 0.990779150654662 0.910036642908719 0.95040789678169 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0806172904770657 0.102586139067522 0.848433314178158 0.858806182009397 NA 0.0916017147722937 NA FALSE NA 0 -1.465 NA NA NA C6orf118 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:165299407 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant -0.222605 0.08933 0.0247 0.053691 0.565969592240819 0.118451 1.45572025749264e-17 FALSE 8.166e-06 ENSE00001309412_003 ENSE00001309412 003 6 165712882 165713051 - 50 60 60 T G 165712912 2758 140 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGCGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299422 165299423 165299423 downstr_intron 20 1.40816326530612 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGCGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 402 245 0.995779934729453 1 0.997889967364726 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0856180745518562 0.192549496158803 0.848433314178158 0.858806182009397 NA 0.13908378535533 NA FALSE NA 0 -1.729 . intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 4/7 1 NA CTC T,G 1.647e-05 6:165299423 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant 0.080975 0.10345 0.00872 0.053691 0.264168097939949 0.183222 1.45572025749264e-17 FALSE 1.62652e-05 ENSE00001309412_004 ENSE00001309412 004 6 165712882 165713051 - 50 60 60 C T 165712922 2759 130 AAGCTATGGATAAGCAGGCTCTATTCAGGCTCTTTGTGATTGATCGTCACCTCGTACTGTGCTGCAGGCTGGGACTCCAGGAGCGTTGCCATGTAGAGTTCATATTCATCCTGTACAGAAACAAACAAAAGTCCACTGGCCATGTATGAGGAGGCCACAGTGCAGGTGTT 165299392 165299562 165299432 165299433 165299433 downstr_intron 10 1.20408163265306 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCAATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 58 22 0.967673881543497 0.99274226352378 0.980208072533639 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0575120213659011 0.185291759682583 0.848433314178158 0.858806182009397 NA 0.121401890524242 NA FALSE NA 0 -1.438 . intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 4/7 1 NA TCG C,T 8.236e-06 6:165299433 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant 0.145156 0.13368 0.00146 0.053691 0.377990094044024 0.172431 1.45572025749264e-17 FALSE 2.0328e-05 ENSE00001309412_005 ENSE00001309412 005 6 165712882 165713051 - 50 60 60 G A 165712923 2760 129 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATTGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299433 165299434 165299434 downstr_intron 9 1.18367346938776 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATTGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 802 157 0.95519860200933 0.928583216200497 0.941890909104914 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0450367418317335 0.1211327123593 0.848433314178158 0.858806182009397 NA 0.0830847270955169 NA FALSE NA 0 0.441 . intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 4/7 rs202221253 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 3.295e-05 6:165299434 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant 0.012625 0.18468 0.01269 0.053691 0.499807286610159 0.171671 1.45572025749264e-17 FALSE 1.21971e-05 ENSE00001309412_006 ENSE00001309412 006 6 165712882 165713051 - 50 60 60 G A 165712927 2761 125 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGATGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299437 165299438 165299438 downstr_intron 5 1.10204081632653 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGATGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 121 34 0.993117497490398 0.922507680899305 0.957812589194852 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0829556373128015 0.115057177058108 0.848433314178158 0.858806182009397 NA 0.0990064071854549 NA FALSE NA 0.006 -0.192 rs56325343 splice_region_variant&intron_variant LOW C6orf118 HGNC 21233 ENST00000543069 4/7 rs56325343 1 A:0.0851 A:0.1467 A:0.0605 NA A:0.0129 A:0.0915 A:0.0869 A:0.1228 A:0.0801 CGT G,A 0.077 6:165299438 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 splice_region_variant -0.15086 0.83669 0.01321 0.053691 0.515966371927793 0.281856 1.45572025749264e-17 FALSE 0.076422 ENSE00001309412_009 ENSE00001309412 009 6 165712882 165713051 - 50 60 60 G A 165712935 2764 117 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTATGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299445 165299446 165299446 exon -4 0.95 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTATGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 13 151 0.8 0.786873085173772 0.793436542586886 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA -0.110161860177596 -0.0205774186674255 0.848433314178158 0.858806182009397 NA -0.0653696394225109 NA FALSE NA 0 -1.14 rs149458250 synonymous_variant LOW C6orf118 HGNC 21233 ENST00000543069 4/8 rs149458250 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0003 CGT G,A 9.884e-05 6:165299446 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 synonymous_variant -0.431139 0.16217 0.00768 0.554377 0.210353123860081 0 1.45572025749264e-17 FALSE 9.74801e-05 ENSE00001309412_014 ENSE00001309412 014 6 165712882 165713051 - 50 60 60 G A 165712953 2769 99 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCTCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299463 165299464 165299464 exon -22 0.65 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCTCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 524 182 0.976591569408426 0.919204253518704 0.947897911463565 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0664297092308299 0.111753749677507 0.848433314178158 0.858806182009397 NA 0.0890917294541684 NA FALSE NA 0.571 -0.187 . synonymous_variant LOW C6orf118 HGNC 21233 ENST00000543069 4/8 1 NA GGG G,A 8.236e-06 6:165299464 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 synonymous_variant 0.165964 0.22961 0.12066 0.554377 0.498313430997555 0 1.45572025749264e-17 FALSE 8.12222e-06 ENSE00001309412_017 ENSE00001309412 017 6 165712882 165713051 - 50 60 60 C G 165712971 2772 81 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATCGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299481 165299482 165299482 exon 21 0.35 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATCGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 86 93 1 0.998295610662204 0.999147805331102 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0898381398224036 0.190845106821007 0.848433314178158 0.858806182009397 NA 0.140341623321705 NA FALSE NA 0.923 1.68 . missense_variant MODERATE C6orf118 HGNC 21233 ENST00000543069 4/8 1 benign(0.331) NA CCA C,G 8.236e-06 6:165299482 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 missense_variant 1.746093 0.97713 0.86937 0.554377 0.988913706461778 0 1.45572025749264e-17 FALSE 4.06134e-06 ENSE00001309412_019 ENSE00001309412 019 6 165712882 165713051 - 50 60 60 G A 165712974 2774 78 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTATATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299484 165299485 165299485 exon 18 0.3 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTATATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 11 44 0.814550456492007 0.8 0.807275228246004 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA -0.095611403685589 -0.00745050384119694 0.848433314178158 0.858806182009397 NA -0.051530953763393 NA FALSE NA 1 1.816 . synonymous_variant LOW C6orf118 HGNC 21233 ENST00000543069 4/8 COSM376207 1 NA TGT G,A 8.236e-06 6:165299485 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 synonymous_variant -0.296892 0.9681 0.80581 0.554377 0.485235218948691 0 1.45572025749264e-17 FALSE 8.12282e-06 ENSE00001309412_020 ENSE00001309412 020 6 165712882 165713051 - 50 60 60 C T 165712992 2775 60 AAGCTATGGATAAGCAGGCTCTATTCAGGCTCTTTGTGATCGATCGTCACCTCGTACTGTGCTGCAGGCTGGGACTCCAGGAGCGTTGCCATGTAGAGTTCATATTCATCTTGTACAGAAACAAACAAAAGTCCACTGGCCATGTATGAGGAGGCCACAGTGCAGGTGTT 165299392 165299562 165299502 165299503 165299503 upstr_intron -1 0 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAAGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 376 37 0.00130256192906341 0 0.000651280964531704 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA -0.908859298248533 -0.807450503841197 0.848433314178158 0.858806182009397 NA -0.858154901044865 NA TRUE NA 0.999 3.899 . splice_acceptor_variant HIGH C6orf118 HGNC 21233 ENST00000543069 3/7 1 NA HC CCT C,T 8.236e-06 6:165299503 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 splice_acceptor_variant 3.744673 0.98184 0.92269 0.053691 0.984907325519604 0.97539 1.45572025749264e-17 FALSE 4.06276e-06 ENSE00001309412_023 ENSE00001309412 023 6 165712882 165713051 - 50 60 60 T C 165713013 2778 39 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGGCTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299523 165299524 165299524 upstr_intron -22 -0.35 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGGCTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 316 190 0.988633992812011 0.861060383554319 0.924847188183165 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0784721326344142 0.0536098797131216 0.848433314178158 0.858806182009397 NA 0.0660410061737679 NA FALSE NA 0 -0.59 rs188580263 intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 3/7 rs188580263 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GTC T,C 8.236e-06 6:165299524 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant 0.242777 0.12365 0.01679 0.053691 0.362765995658277 0.0965971 1.45572025749264e-17 FALSE 4.07451e-06 ENSE00001309412_024 ENSE00001309412 024 6 165712882 165713051 - 50 60 60 C T 165713014 2779 38 AAGCTATGGATAAGCAGGCTCTATTCAGGCTCTTTGTGATCGATCGTCACCTCGTACTGTGCTGCAGGCTGGGACTCCAGGAGCGTTGCCATGTAGAGTTCATATTCATCCTGTACAGAAACAAACAAAAGTTCACTGGCCATGTATGAGGAGGCCACAGTGCAGGTGTT 165299392 165299562 165299524 165299525 165299525 upstr_intron -23 -0.366666666666667 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGAACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 44 162 1 1 1 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0898381398224036 0.192549496158803 0.848433314178158 0.858806182009397 NA 0.141193817990603 NA FALSE NA 0 -0.484 rs75628737 intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 3/7 rs75628737 1 T:0.0014 T:0 T:0.0043 NA T:0 T:0.003 T:0.001 T:0.0014 T:0.0052 TCC C,T 0.002858 6:165299525 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant 0.333321 0.15007 0.00493 0.053691 0.721120521478781 0.0585936 1.45572025749264e-17 FALSE 0.00282343 ENSE00001309412_025 ENSE00001309412 025 6 165712882 165713051 - 50 60 60 A C 165713016 2780 36 AAGCTATGGATAAGCAGGCTCTATTCAGGCTCTTTGTGATCGATCGTCACCTCGTACTGTGCTGCAGGCTGGGACTCCAGGAGCGTTGCCATGTAGAGTTCATATTCATCCTGTACAGAAACAAACAAAAGTCCCCTGGCCATGTATGAGGAGGCCACAGTGCAGGTGTT 165299392 165299562 165299526 165299527 165299527 upstr_intron -25 -0.4 AACACCTGCACTGTGGCCTCCTCATACATGGCCAGGGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 513 40 0.807772215886809 0.8 0.803886107943404 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA -0.102389644290788 -0.00745050384119694 0.848433314178158 0.858806182009397 NA -0.0549200740659923 NA FALSE NA 0 0.393 . intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 3/7 1 NA CAC A,C 8.236e-06 6:165299527 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant 0.13094 0.19301 0.07411 0.053691 0.598486988409708 0.0585936 1.45572025749264e-17 FALSE 4.07631e-06 ENSE00001309412_026 ENSE00001309412 026 6 165712882 165713051 - 50 60 60 G A 165713019 2781 33 AACACCTGCACTGTGGCCTCCTCATACATGGCTAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 165299529 165299530 165299530 upstr_intron -28 -0.45 AACACCTGCACTGTGGCCTCCTCATACATGGCTAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 107 260 0.981076507234744 1 0.990538253617372 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.070914647057148 0.192549496158803 0.848433314178158 0.858806182009397 NA 0.131732071607976 NA FALSE NA 0.001 0.462 . intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 3/7 1 NA TGG G,A 8.236e-06 6:165299530 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant 0.322182 0.25324 0.02229 0.053691 0.698493828546985 0.0443698 1.45572025749264e-17 FALSE 4.0808e-06 ENSE00001309412_027 ENSE00001309412 027 6 165712882 165713051 - 50 60 60 G T 165713020 2782 32 AAGCTATGGATAAGCAGGCTCTATTCAGGCTCTTTGTGATCGATCGTCACCTCGTACTGTGCTGCAGGCTGGGACTCCAGGAGCGTTGCCATGTAGAGTTCATATTCATCCTGTACAGAAACAAACAAAAGTCCACTGTCCATGTATGAGGAGGCCACAGTGCAGGTGTT 165299392 165299562 165299530 165299531 165299531 upstr_intron -29 -0.466666666666667 AACACCTGCACTGTGGCCTCCTCATACATGGACAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 125 19 1 1 1 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0898381398224036 0.192549496158803 0.848433314178158 0.858806182009397 NA 0.141193817990603 NA FALSE NA 0.001 0.524 . intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 3/7 rs568777286 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 GGC G,T 0.0001071 6:165299531 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant 0.014312 0.16578 0.06275 0.053691 0.591335349350864 0.0443366 1.45572025749264e-17 FALSE 8.57248e-05 ENSE00001309412_028 ENSE00001309412 028 6 165712882 165713051 - 50 60 60 A C 165713027 2783 25 AAGCTATGGATAAGCAGGCTCTATTCAGGCTCTTTGTGATCGATCGTCACCTCGTACTGTGCTGCAGGCTGGGACTCCAGGAGCGTTGCCATGTAGAGTTCATATTCATCCTGTACAGAAACAAACAAAAGTCCACTGGCCATGTCTGAGGAGGCCACAGTGCAGGTGTT 165299392 165299562 165299537 165299538 165299538 upstr_intron -36 -0.583333333333333 AACACCTGCACTGTGGCCTCCTCAGACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT mutant NA NA NA NA NA 67 625 1 0.999939086080939 0.99996954304047 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 NA NA 0.0898381398224036 0.192488582239742 0.848433314178158 0.858806182009397 NA 0.141163361031073 NA FALSE NA 0 -0.204 rs142124255 intron_variant MODIFIER C6orf118 HGNC 21233 ENST00000543069 3/7 rs142124255 1 C:0.0074 C:0.0227 C:0.0101 NA C:0 C:0 C:0 C:0.0236 C:0 TAT A,C 0.002487 6:165299538 C6orf118 HGNC Symbol protein_coding 29943 ENSG00000112539 ENSE00001309412 intron_variant -0.331604 0.17773 0.01697 0.053691 0.331837691654168 0.081026 1.45572025749264e-17 FALSE 0.00193967 ENSE00001309412_BRK ENSE00001309412 BRK 6 165712882 165713051 - 50 60 60 A,G; T,T NA NA NA AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACTTGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGCCGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT 165299392 165299562 NA NA NA NA NA NA AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACTTGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGCCGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT AACACCTGCACTGTGGCCTCCTCATACATGGCCAGTGGACTTTTGTTTGTTTCTGTACAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGTGACGATCGATCACAAAGAGCCTGAATAGAGCCTGCTTATCCATAGCTT control 13 77 0 0 0 NA NA NA NA NA 0.918081671992289 0.778784956364028 0.910161860177596 0.807450503841197 -0.918081671992289 -0.778784956364028 NA NA 0.848433314178158 0.858806182009397 -0.848433314178158 NA NA NA TRUE NA NA NA NA NA C6orf118 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C6orf118 NA NA NA ENSG00000112539 ENSE00001309412 NA NA NA NA NA NA NA 1.45572025749264e-17 FALSE NA ENSE00001309912_000 ENSE00001309912 000 3 48621874 48622043 - 44 72 54 NA NA NA NA NA TCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGG 48584440 48584610 NA NA NA NA NA NA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA natural 40 27 0.980917903683749 0.993936054453919 0.987426979068834 515 356 1 0.988944171842265 0.994472085921133 0.980917903683749 0.993936054453919 1 0.988944171842265 0 0 0 0 0.987426979068834 0.994472085921133 0 0 0 FALSE FALSE NA NA NA NA NA COL7A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL7A1 NA NA NA ENSG00000114270 ENSE00001309912 NA NA NA NA NA NA NA 2.10611122198023e-18 FALSE NA ENSE00001309912_002 ENSE00001309912 002 3 48621874 48622043 - 44 72 54 C T 48621885 987 159 TCCCCCCACTATACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGG 48584440 48584610 48584451 48584452 48584452 downstr_intron 33 1.76744186046512 CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTATAGTGGGGGGA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA mutant NA NA NA NA NA 60 122 1 1 1 0.980917903683749 0.993936054453919 1 0.988944171842265 NA NA 0 0.0110558281577345 0.987426979068834 0.994472085921133 NA 0.00552791407886727 NA FALSE NA 0 0.235 . intron_variant MODIFIER COL7A1 HGNC 2214 ENST00000328333 35/117 1 NA ACA C,T 3.295e-05 3:48584452 COL7A1 HGNC Symbol protein_coding 31194 ENSG00000114270 ENSE00001309912 intron_variant 0.126819 0.25809 0.14517 0.078448 0.344972566795492 0.0775375 2.10611122198023e-18 FALSE 1.62587e-05 ENSE00001309912_009 ENSE00001309912 009 3 48621874 48622043 - 44 72 54 C T 48621940 994 104 TCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCTGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGG 48584440 48584610 48584506 48584507 48584507 exon -23 0.694444444444444 CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCAGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA mutant NA NA NA NA NA 81 38 1 1 1 0.980917903683749 0.993936054453919 1 0.988944171842265 NA NA 0 0.0110558281577345 0.987426979068834 0.994472085921133 NA 0.00552791407886727 NA FALSE NA 0 -3.786 . missense_variant MODERATE COL7A1 HGNC 2214 ENST00000328333 35/118 COSM1423783&COSM1670162 1 unknown(0) NA CCG C,T 4.118e-05 3:48584507 COL7A1 HGNC Symbol protein_coding 31194 ENSG00000114270 ENSE00001309912 missense_variant 2.451275 0.15521 0.00435 0.615465 0.923118150253914 0 2.10611122198023e-18 FALSE 1.21864e-05 ENSE00001309912_011 ENSE00001309912 011 3 48621874 48622043 - 44 72 54 C T 48621944 996 100 TCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCTAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGG 48584440 48584610 48584510 48584511 48584511 exon -27 0.638888888888889 CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTAGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA mutant NA NA NA NA NA 32 25 0.987819511156119 0.993620542821393 0.990720026988756 0.980917903683749 0.993936054453919 1 0.988944171842265 NA NA -0.0121804888438812 0.00467637097912732 0.987426979068834 0.994472085921133 NA -0.00375205893237696 NA FALSE NA 1 4.977 . missense_variant MODERATE COL7A1 HGNC 2214 ENST00000328333 35/118 1 unknown(0) NA CCA C,T 8.237e-06 3:48584511 COL7A1 HGNC Symbol protein_coding 31194 ENSG00000114270 ENSE00001309912 missense_variant 5.504266 0.99184 0.98964 0.615465 0.987225383291582 0 2.10611122198023e-18 FALSE 4.0622e-06 ENSE00001309912_012 ENSE00001309912 012 3 48621874 48622043 - 44 72 54 A C 48621945 997 99 TCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCCGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCGGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGG 48584440 48584610 48584511 48584512 48584512 exon -28 0.625 CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCGGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA mutant NA NA NA NA NA 24 180 0.993552289380949 1 0.996776144690474 0.980917903683749 0.993936054453919 1 0.988944171842265 NA NA -0.00644771061905136 0.0110558281577345 0.987426979068834 0.994472085921133 NA 0.00230405876934159 NA FALSE NA 0.999 0.632 . synonymous_variant LOW COL7A1 HGNC 2214 ENST00000328333 35/118 rs576167826 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CAG A,C 5.766e-05 3:48584512 COL7A1 HGNC Symbol protein_coding 31194 ENSG00000114270 ENSE00001309912 synonymous_variant 0.099583 0.96252 0.89165 0.615465 0.68799905897257 0 2.10611122198023e-18 FALSE 3.65595e-05 ENSE00001309912_019 ENSE00001309912 019 3 48621874 48622043 - 44 72 54 G A 48621981 1004 63 TCCCCCCACTACACATCACTTGCCTCCACATACCCTGCACTTACCGATGGTCCAGGGTCCCCTTTCCGCCCAGGAAGCCCAGGTCCTTCACCTCCGATGACTTGTCCAGGAGCCCCCTGTAAGGACAGAGAGCAGTGGGCAGGATTCAGGCTATGGGGGCCTTGAGCTGG 48584440 48584610 48584547 48584548 48584548 exon 9 0.125 CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCTGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA mutant NA NA NA NA NA 65 183 1 0.997679118345127 0.998839559172564 0.980917903683749 0.993936054453919 1 0.988944171842265 NA NA 0 0.00873494650286177 0.987426979068834 0.994472085921133 NA 0.00436747325143089 NA FALSE NA 0 -0.524 . synonymous_variant LOW COL7A1 HGNC 2214 ENST00000328333 35/118 rs369136008 1 NA A:0 A:0.0001 CGG G,A 2.471e-05 3:48584548 COL7A1 HGNC Symbol protein_coding 31194 ENSG00000114270 ENSE00001309912 synonymous_variant 1.118195 0.93403 0.02001 0.615465 0.45010470463461 0 2.10611122198023e-18 FALSE 3.25005e-05 ENSE00001309912_BRK ENSE00001309912 BRK 3 48621874 48622043 - 44 72 54 A,G; T,T NA NA NA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACTTGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGCCAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA 48584440 48584610 NA NA NA NA NA NA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACTTGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGCCAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA CCAGCTCAAGGCCCCCATAGCCTGAATCCTGCCCACTGCTCTCTGTCCTTACAGGGGGCTCCCGGACAAGTCATCGGAGGTGAAGGACCTGGGCTTCCTGGGCGGAAAGGGGACCCTGGACCATCGGTAAGTGCAGGGTATGTGGAGGCAAGTGATGTGTAGTGGGGGGA control 28 38 0 0 0 NA NA NA NA NA 0.980917903683749 0.993936054453919 1 0.988944171842265 -0.980917903683749 -0.993936054453919 NA NA 0.987426979068834 0.994472085921133 -0.987426979068834 NA NA NA TRUE NA NA NA NA NA COL7A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL7A1 NA NA NA ENSG00000114270 ENSE00001309912 NA NA NA NA NA NA NA 2.10611122198023e-18 FALSE NA ENSE00001310171_000 ENSE00001310171 000 19 14876091 14876260 - 41 78 51 NA NA NA NA NA ACCTTCCTGCCTCGCCCCCTTGCCCTGGGTCCTGTCCTTACCTGGATGGTGTTATTGGCCAAGCCTGGCTTGTAGTCTCTGCCCAGGTCCTGGACTTTGTCGAAGAATCGGGAAAGCGTCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACGGCGGGTGGGAA 14765278 14765448 NA NA NA NA NA NA TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTACAAGCCAGGCTTGGCCAATAACACCATCCAGGTAAGGACAGGACCCAGGGCAAGGGGGCGAGGCAGGAAGGT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTACAAGCCAGGCTTGGCCAATAACACCATCCAGGTAAGGACAGGACCCAGGGCAAGGGGGCGAGGCAGGAAGGT natural 14 15 0.984983698488818 0.986615639841082 0.98579966916495 563 320 0.979781225774532 0.95838578969317 0.969083507733851 0.984983698488818 0.986615639841082 0.979781225774532 0.95838578969317 0 0 0 0 0.98579966916495 0.969083507733851 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADGRE2 NA NA NA ENSG00000127507 ENSE00003647085 NA NA NA NA NA NA NA NA NA NA ENSE00001310171_021 ENSE00001310171 021 19 14876091 14876260 - 41 78 51 G A 14876208 1264 53 ACCTTCCTGCCTCGCCCCCTTGCCCTGGGTCCTGTCCTTACCTGGATGGTGTTATTGGCCAAGCCTGGCTTGTAGTCTCTGCCCAGGTCCTGGACTTTGTCGAAGAATCGGGAAAGCATCTGCAGAGAGAGGAGATGTGGGGGTCAGAGAGCCTGGACGGCGGGTGGGAA 14765278 14765448 14765395 14765396 14765396 exon 2 0.0256410256410256 TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGATGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTACAAGCCAGGCTTGGCCAATAACACCATCCAGGTAAGGACAGGACCCAGGGCAAGGGGGCGAGGCAGGAAGGT TTCCCACCCGCCGTCCAGGCTCTCTGACCCCCACATCTCCTCTCTCTGCAGACGCTTTCCCGATTCTTCGACAAAGTCCAGGACCTGGGCAGAGACTACAAGCCAGGCTTGGCCAATAACACCATCCAGGTAAGGACAGGACCCAGGGCAAGGGGGCGAGGCAGGAAGGT mutant NA NA NA NA NA 218 36 0.99301527063139 1 0.996507635315695 0.984983698488818 0.986615639841082 0.979781225774532 0.95838578969317 NA NA 0.013234044856858 0.0416142103068302 0.98579966916495 0.969083507733851 NA 0.0274241275818441 NA FALSE NA 0 -1.974 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:14765396 ADGRE2 HGNC Symbol protein_coding 46148 ENSG00000127507 ENSE00003647085 missense_variant 0.196661 0.11151 0.00979 0.693126 0.840860022888978 0 NA NA 4.87373e-05 ENSE00001310733_000 ENSE00001310733 000 6 70064083 70064252 + 42 96 32 NA NA NA NA NA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 NA NA NA NA NA NA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA natural 107 215 0.997551313898836 0.989576423284895 0.993563868591865 6703 9573 0.941661388904011 0.926799887653673 0.934230638278842 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 0 0 0 0 0.993563868591865 0.934230638278842 0 0 0 FALSE FALSE NA NA NA NA NA BAI3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADGRB3 NA NA NA ENSG00000135298 ENSE00001310733 NA NA NA NA NA NA NA NA NA NA ENSE00001310733_001 ENSE00001310733 001 6 70064083 70064252 + 42 96 32 A G 70064094 1426 12 TATTAAGAGAGGAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354201 69354202 69354202 upstr_intron -31 -0.714285714285714 TATTAAGAGAGGAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1202 1018 0.994059025001281 0.999248799881746 0.996653912441513 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0523976360972692 0.0724489122280723 0.993563868591865 0.934230638278842 NA 0.0624232741626707 NA FALSE NA 0 1.014 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 4/9 1 NA GAA A,G 1.647e-05 6:69354202 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant 0.665139 0.2308 0.09408 0.061011 0.834832698512212 0.0656782 NA NA 1.6288e-05 ENSE00001310733_002 ENSE00001310733 002 6 70064083 70064252 + 42 96 32 A G 70064099 1427 17 TATTAAGAGAGAAGAAGATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354206 69354207 69354207 upstr_intron -26 -0.595238095238095 TATTAAGAGAGAAGAAGATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1795 1468 0.999885310466372 0.998640440767552 0.999262875616962 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0582239215623609 0.071840553113879 0.993563868591865 0.934230638278842 NA 0.06503223733812 NA FALSE NA 0.054 2.291 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 4/9 1 NA AAA A,G 1.647e-05 6:69354207 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant 0.722118 0.71012 0.35976 0.061011 0.897839732851148 0.58303 NA NA 8.13776e-06 ENSE00001310733_003 ENSE00001310733 003 6 70064083 70064252 + 42 96 32 T G 70064102 1428 20 TATTAAGAGAGAAGAAAATGAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354209 69354210 69354210 upstr_intron -23 -0.523809523809524 TATTAAGAGAGAAGAAAATGAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 2029 2542 0.994383484253744 0.997535281065214 0.995959382659479 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0527220953497329 0.0707353934115411 0.993563868591865 0.934230638278842 NA 0.061728744380637 NA FALSE NA 0 -0.205 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 4/9 1 NA TTA T,G 8.236e-06 6:69354210 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant 0.269623 0.20873 0.05279 0.061011 0.700296731384001 0.0656782 NA NA 4.06868e-06 ENSE00001310733_004 ENSE00001310733 004 6 70064083 70064252 + 42 96 32 T C 70064110 1429 28 TATTAAGAGAGAAGAAAATTAATGTGTCCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354217 69354218 69354218 upstr_intron -15 -0.333333333333333 TATTAAGAGAGAAGAAAATTAATGTGTCCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 780 432 0.996444566052057 0.996938824081425 0.996691695066741 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0547831771480455 0.0701389364277515 0.993563868591865 0.934230638278842 NA 0.0624610567878985 NA FALSE NA 0 -0.519 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 4/9 1 NA TTC T,C 8.236e-06 6:69354218 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant -0.245445 0.15806 0.01444 0.061011 0.418332901508428 0.0656782 NA NA 4.066e-06 ENSE00001310733_006 ENSE00001310733 006 6 70064083 70064252 + 42 96 32 C T 70064113 1431 31 TATTAAGAGAGAAGAAAATTAATGTGTTCCTCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354220 69354221 69354221 upstr_intron -12 -0.261904761904762 TATTAAGAGAGAAGAAAATTAATGTGTTCCTCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1026 2685 0.997772804547328 0.999528490911127 0.998650647729228 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0561114156433163 0.0727286032574541 0.993563868591865 0.934230638278842 NA 0.0644200094503852 NA FALSE NA 0 -0.382 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 4/9 1 NA CCC C,T 1.647e-05 6:69354221 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant -0.034383 0.14913 0.02612 0.061011 0.381264474317243 0.0656782 NA NA 1.21963e-05 ENSE00001310733_007 ENSE00001310733 007 6 70064083 70064252 + 42 96 32 C A 70064115 1432 33 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCATCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354222 69354223 69354223 upstr_intron -10 -0.214285714285714 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCATCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 188 1421 1 0.913207111705183 0.956603555852591 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0583386110959886 -0.0135927759484906 0.993563868591865 0.934230638278842 NA 0.022372917573749 NA FALSE NA 0 1.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:69354223 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant 0.065054 0.20064 0.08365 0.061011 0.350784828728654 0.0656782 NA NA 2.43926e-05 ENSE00001310733_008 ENSE00001310733 008 6 70064083 70064252 + 42 96 32 C T 70064115 1433 33 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCTTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354222 69354223 69354223 upstr_intron -10 -0.214285714285714 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCTTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 2058 856 0.925626005381885 0.995285241245818 0.960455623313851 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA -0.0160353835221267 0.0684853535921445 0.993563868591865 0.934230638278842 NA 0.0262249850350089 NA FALSE NA 0 1.033 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001310733 intron_variant 0.07957 0.17809 0.00497 0.061011 0.385026434536838 0.0656782 0.454891016173085 FALSE 4.06544e-06 ENSE00001310733_009 ENSE00001310733 009 6 70064083 70064252 + 42 96 32 C G 70064115 1434 33 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCGTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354222 69354223 69354223 upstr_intron -10 -0.214285714285714 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCGTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1749 997 0.991077003132427 0.999496641056455 0.995286822094441 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0494156142284152 0.0726967534027818 0.993563868591865 0.934230638278842 NA 0.0610561838155985 NA FALSE NA 0 1.033 NA NA NA BAI3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADGRB3 NA NA NA ENSG00000135298 ENSE00001310733 intron_variant -0.06385 0.20118 0.06043 0.061011 0.290826245122286 0.0656782 NA NA 8.13087e-06 ENSE00001310733_010 ENSE00001310733 010 6 70064083 70064252 + 42 96 32 C A 70064120 1435 38 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCAACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354227 69354228 69354228 upstr_intron -5 -0.0952380952380952 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCAACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 686 438 0.999096652687972 0.996718963287453 0.997907807987713 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.057435263783961 0.0699190756337794 0.993563868591865 0.934230638278842 NA 0.0636771697088702 NA FALSE NA 0 0.022 . splice_region_variant&intron_variant LOW BAI3 HGNC 945 ENST00000546190 4/9 1 NA CCA C,A 8.236e-06 6:69354228 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 splice_region_variant 0.066077 0.22249 0.04031 0.061011 0.42457688025019 0.134551 NA NA 4.06471e-06 ENSE00001310733_011 ENSE00001310733 011 6 70064083 70064252 + 42 96 32 G C 70064130 1436 48 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCACGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354237 69354238 69354238 exon 6 0.0625 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCACGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 381 509 0.998258842131321 0.977407371441123 0.987833106786222 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0565974532273098 0.0506074837874501 0.993563868591865 0.934230638278842 NA 0.0536024685073799 NA FALSE NA 0.997 0.565 . missense_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 1 benign(0.003) NA AGG G,C 8.236e-06 6:69354238 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 3.021302 0.9649 0.86911 0.487112 0.989766159873725 0 NA NA 4.06306e-06 ENSE00001310733_012 ENSE00001310733 012 6 70064083 70064252 + 42 96 32 A G 70064132 1437 50 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGGTGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354239 69354240 69354240 exon 8 0.0833333333333333 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGGTGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1040 1587 0.903363321445715 0.98729702157278 0.945330171509247 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA -0.0382980674582961 0.0604971339191064 0.993563868591865 0.934230638278842 NA 0.0110995332304051 NA FALSE NA 1 8.891 . missense_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 1 benign(0.212) NA GAT A,G 8.236e-06 6:69354240 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 4.90172 0.99241 0.98829 0.487112 0.994596667247968 0 NA NA 1.62521e-05 ENSE00001310733_013 ENSE00001310733 013 6 70064083 70064252 + 42 96 32 T C 70064133 1438 51 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGACGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354240 69354241 69354241 exon 9 0.09375 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGACGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1680 2052 0.968932102306871 0.998547430878053 0.983739766592462 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0272707134028591 0.0717475432243798 0.993563868591865 0.934230638278842 NA 0.0495091283136195 NA FALSE NA 1 2.047 rs144533492 synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 rs144533492 1 NA C:0 C:0.0002 ATG T,C 4.118e-05 6:69354241 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 0.388886 0.98707 0.90876 0.487112 0.573148480466085 0 NA NA 2.43776e-05 ENSE00001310733_014 ENSE00001310733 014 6 70064083 70064252 + 42 96 32 A G 70064142 1439 60 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGGTGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354249 69354250 69354250 exon 18 0.1875 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGGTGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 268 1360 1 0.999551012973187 0.999775506486593 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0583386110959886 0.0727511253195136 0.993563868591865 0.934230638278842 NA 0.0655448682077511 NA FALSE NA 1 4.15 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 1 NA GAT A,G 0.0001153 6:69354250 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 0.493782 0.98314 0.92625 0.487112 0.779524452375197 0 NA NA 9.7496e-05 ENSE00001310733_015 ENSE00001310733 015 6 70064083 70064252 + 42 96 32 C T 70064145 1440 63 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGTCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354252 69354253 69354253 exon 21 0.21875 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGTCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 2594 185 0.997860766983804 0.97796141153771 0.987911089260757 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0561993780797927 0.0511615238840366 0.993563868591865 0.934230638278842 NA 0.0536804509819147 NA FALSE NA 1 0.606 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 COSM3875166 1 NA GCC C,T 2.471e-05 6:69354253 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 1.679673 0.96811 0.60621 0.487112 0.669981028452236 0 NA NA 8.12473e-06 ENSE00001310733_016 ENSE00001310733 016 6 70064083 70064252 + 42 96 32 G A 70064147 1441 65 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCAATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354254 69354255 69354255 exon 23 0.239583333333333 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCAATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 568 353 0.996473934524591 1 0.998236967262295 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0548125456205791 0.0732001123463267 0.993563868591865 0.934230638278842 NA 0.0640063289834529 NA FALSE NA 1 9.401 . missense_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 rs369475329 1 benign(0.009) NA A:0.0002 A:0 CGA G,A 6.589e-05 6:69354255 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 4.246734 0.99428 0.98959 0.487112 0.997016823291722 0 NA NA 5.68759e-05 ENSE00001310733_017 ENSE00001310733 017 6 70064083 70064252 + 42 96 32 T C 70064149 1442 67 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGACTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354256 69354257 69354257 exon 25 0.260416666666667 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGACTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 3785 825 0.996026226329698 0.982997351009127 0.989511788669412 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0543648374256862 0.0561974633554533 0.993563868591865 0.934230638278842 NA 0.0552811503905697 NA FALSE NA 0.417 0.251 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 1 NA ATT T,C 8.236e-06 6:69354257 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 0.300419 0.94778 0.15149 0.487112 0.713430554173199 0 NA NA 1.21863e-05 ENSE00001310733_018 ENSE00001310733 018 6 70064083 70064252 + 42 96 32 C T 70064157 1443 75 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAATTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354264 69354265 69354265 exon 33 0.34375 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAATTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1496 1433 0.997094325372124 0.864601928650264 0.930848127011194 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.055432936468113 -0.0621979590034095 0.993563868591865 0.934230638278842 NA -0.00338251126764827 NA FALSE NA 1 1.49 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 1 NA ACT C,T 8.236e-06 6:69354265 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 1.190894 0.98201 0.81481 0.487112 0.623691077385236 0 NA NA 4.06213e-06 ENSE00001310733_019 ENSE00001310733 019 6 70064083 70064252 + 42 96 32 G A 70064163 1444 81 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAAGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354270 69354271 69354271 exon 39 0.40625 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAAGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1277 382 0.999879979983021 1 0.99993998999151 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0582185910790092 0.0732001123463267 0.993563868591865 0.934230638278842 NA 0.065709351712668 NA FALSE NA 1 1.313 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 COSM3629249 1 NA AGG G,A 8.236e-06 6:69354271 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 0.089321 0.96614 0.7474 0.487112 0.403481964506735 0 NA NA 4.06207e-06 ENSE00001310733_020 ENSE00001310733 020 6 70064083 70064252 + 42 96 32 C A 70064169 1445 87 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCAATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354276 69354277 69354277 exon 45 0.46875 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCAATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1181 1469 0.912528530891665 0.992086321343828 0.952307426117747 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA -0.0291328580123463 0.065286433690155 0.993563868591865 0.934230638278842 NA 0.0180767878389043 NA FALSE NA 0.996 0.402 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 1 NA CCA C,A 8.236e-06 6:69354277 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 1.409001 0.95695 0.36418 0.487112 0.628905366997922 0 NA NA 4.06204e-05 ENSE00001310733_021 ENSE00001310733 021 6 70064083 70064252 + 42 96 32 T C 70064175 1446 93 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAACGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354282 69354283 69354283 exon -46 0.53125 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAACGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1920 1680 0.998935693182598 0.879572292625088 0.939253992903843 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0572743042785867 -0.0472275950285852 0.993563868591865 0.934230638278842 NA 0.00502335462500075 NA FALSE NA 1 2.495 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 1 NA ATG T,C 8.236e-06 6:69354283 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant -0.085135 0.98677 0.90378 0.487112 0.530901015631678 0 NA NA 4.06204e-06 ENSE00001310733_022 ENSE00001310733 022 6 70064083 70064252 + 42 96 32 C G 70064177 1447 95 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGGAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354284 69354285 69354285 exon -44 0.552083333333333 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGGAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 364 457 0.993031367710812 0.995842913738185 0.994437140724499 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0513699788068009 0.0690430260845115 0.993563868591865 0.934230638278842 NA 0.0602065024456562 NA FALSE NA 1 3.733 . missense_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 COSM1580160 1 benign(0.001) NA GCA C,G 8.236e-06 6:69354285 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 1.051563 0.98907 0.8858 0.487112 0.198143076721606 0 NA NA 4.062e-06 ENSE00001310733_023 ENSE00001310733 023 6 70064083 70064252 + 42 96 32 G A 70064187 1448 105 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCAAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354294 69354295 69354295 exon -34 0.65625 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCAAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 784 1117 0.998148173981381 0.998451934295744 0.998300054138563 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0564867850773697 0.0716520466420709 0.993563868591865 0.934230638278842 NA 0.0640694158597203 NA FALSE NA 0.988 0.419 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:69354295 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 0.026907 0.95273 0.35525 0.487112 0.613537324116113 0 NA NA 0.178994 ENSE00001310733_024 ENSE00001310733 024 6 70064083 70064252 + 42 96 32 G T 70064187 1449 105 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCTAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354294 69354295 69354295 exon -34 0.65625 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCTAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 972 966 0.997768520796255 0.998045913688389 0.997907217242322 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.056107131892244 0.0712460260347157 0.993563868591865 0.934230638278842 NA 0.0636765789634799 NA FALSE NA 0.988 0.419 NA NA NA BAI3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADGRB3 NA NA NA ENSG00000135298 ENSE00001310733 synonymous_variant -0.251423 0.96722 0.65646 0.487112 0.579805155361462 0 NA NA 4.06296e-06 ENSE00001310733_026 ENSE00001310733 026 6 70064083 70064252 + 42 96 32 T C 70064190 1451 108 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGCTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354297 69354298 69354298 exon -31 0.6875 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGCTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1166 227 0.995973412922614 0.999302654218068 0.997638033570341 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0543120240186022 0.0725027665643948 0.993563868591865 0.934230638278842 NA 0.0634073952914985 NA FALSE NA 1 1.186 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 1 NA GTT T,C 8.236e-06 6:69354298 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant -0.326448 0.97814 0.82317 0.487112 0.43728578153278 0 NA NA 4.06204e-06 ENSE00001310733_027 ENSE00001310733 027 6 70064083 70064252 + 42 96 32 C T 70064192 1452 110 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTTGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354299 69354300 69354300 exon -29 0.708333333333333 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTTGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1458 155 0.971231799644902 0.986281590737206 0.978756695191054 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0295704107408906 0.0594817030835325 0.993563868591865 0.934230638278842 NA 0.0445260569122116 NA FALSE NA 1 7.43 rs142863825 missense_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 rs142863825&COSM1081157 1 benign(0.041) NA T:0 T:0.0001 TCG C,T 0.0001318 6:69354300 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 4.86372 0.99413 0.98178 0.487112 0.997760527829651 0 NA NA 0.000105615 ENSE00001310733_028 ENSE00001310733 028 6 70064083 70064252 + 42 96 32 G A 70064193 1453 111 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCATTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354300 69354301 69354301 exon -28 0.71875 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCATTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 2390 1483 0.997889428660033 0.994022923563341 0.995956176111687 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0562280397560219 0.0672230359096677 0.993563868591865 0.934230638278842 NA 0.0617255378328448 NA FALSE NA 0.724 -0.197 rs147253402 synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 rs147253402 1 NA A:0 A:0.0001 CGT A,A 2.471e-05 6:69354301 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 0.866073 0.96726 0.49629 0.487112 0.437668414960889 0 NA NA 2.03102e-05 ENSE00001310733_029 ENSE00001310733 029 6 70064083 70064252 + 42 96 32 A C 70064201 1454 119 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTACTGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354308 69354309 69354309 exon -20 0.802083333333333 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTACTGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 2100 1264 0.996444162129887 0.999874859364646 0.998159510747266 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0547827732258755 0.0730749717109728 0.993563868591865 0.934230638278842 NA 0.0639288724684242 NA FALSE NA 1 8.891 . missense_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 1 benign(0.272) NA AAT A,C 8.236e-06 6:69354309 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 4.231927 0.99253 0.98919 0.487112 0.989487009291288 0 NA NA 4.062e-06 ENSE00001310733_030 ENSE00001310733 030 6 70064083 70064252 + 42 96 32 G A 70064205 1455 123 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGACATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354312 69354313 69354313 exon -16 0.84375 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGACATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 811 439 0.99703440158116 0.998865009357804 0.997949705469482 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0553730126771483 0.0720651217041304 0.993563868591865 0.934230638278842 NA 0.0637190671906394 NA FALSE NA 0.851 -0.011 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 1 NA GGC G,A 1.647e-05 6:69354313 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 0.669953 0.94019 0.57136 0.487112 0.713411542183716 0 NA NA 1.21862e-05 ENSE00001310733_031 ENSE00001310733 031 6 70064083 70064252 + 42 96 32 C T 70064206 1456 124 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGTATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354313 69354314 69354314 exon -15 0.854166666666667 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGTATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 345 1673 0.867934313185531 0.999130877679455 0.933532595432493 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA -0.0737270757184807 0.0723309900257816 0.993563868591865 0.934230638278842 NA -0.000698042846349556 NA FALSE NA 1 7.43 . missense_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 1 benign(0.335) NA GCA C,T 8.236e-06 6:69354314 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 5.002618 0.99619 0.98948 0.487112 0.995215883190418 0 NA NA 8.12381e-06 ENSE00001310733_032 ENSE00001310733 032 6 70064083 70064252 + 42 96 32 C G 70064212 1457 130 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTGAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354319 69354320 69354320 exon -9 0.916666666666667 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTGAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1863 630 0.998636666458063 1 0.999318333229031 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0569752775540512 0.0732001123463267 0.993563868591865 0.934230638278842 NA 0.065087694950189 NA FALSE NA 1 7.43 . missense_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 1 benign(0.197) NA TCA C,G 8.236e-06 6:69354320 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 4.223211 0.99632 0.99173 0.487112 0.991406480017838 0 NA NA NA ENSE00001310733_033 ENSE00001310733 033 6 70064083 70064252 + 42 96 32 C T 70064217 1458 135 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATTATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354324 69354325 69354325 exon -4 0.96875 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATTATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1888 4667 0.995884308445731 0.998779227783941 0.997331768114836 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0542229195417196 0.0719793401302681 0.993563868591865 0.934230638278842 NA 0.0631011298359939 NA FALSE NA 0.964 0.094 . synonymous_variant LOW BAI3 HGNC 945 ENST00000546190 5/10 COSM3629251 1 NA TCA C,T 2.471e-05 6:69354325 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 synonymous_variant 1.973854 0.98227 0.86722 0.487112 0.812224923282022 0 NA NA 2.43758e-05 ENSE00001310733_034 ENSE00001310733 034 6 70064083 70064252 + 42 96 32 A G 70064218 1459 136 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCGTGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 69354325 69354326 69354326 exon -3 0.979166666666667 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCGTGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1163 829 0.996376523595544 0.996357828944531 0.996367176270037 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0547151346915326 0.0695579412908574 0.993563868591865 0.934230638278842 NA 0.062136537991195 NA FALSE NA 1 8.891 rs140713099 missense_variant&splice_region_variant MODERATE BAI3 HGNC 945 ENST00000546190 5/10 rs140713099 1 benign(0.004) NA G:0.0002 G:0 CAT A,G 8.236e-06 6:69354326 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 missense_variant 3.729317 0.99531 0.99301 0.487112 0.98424288106933 0 NA NA 8.12678e-06 ENSE00001310733_035 ENSE00001310733 035 6 70064083 70064252 + 42 96 32 A T 70064231 1460 149 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTTTTTTTCCCCGATTGTTAATTA 69354190 69354360 69354338 69354339 69354339 downstr_intron 11 1.35483870967742 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTTTTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 241 738 1 0.99779257376181 0.998896286880905 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0583386110959886 0.0709926861081362 0.993563868591865 0.934230638278842 NA 0.0646656486020624 NA FALSE NA 0.978 1.215 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 5/9 1 NA TAT A,T 8.236e-06 6:69354339 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant 1.439872 0.96297 0.91809 0.061011 0.738292190088022 0.331681 NA NA 4.06435e-06 ENSE00001310733_036 ENSE00001310733 036 6 70064083 70064252 + 42 96 32 T C 70064236 1461 154 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTCCCCCGATTGTTAATTA 69354190 69354360 69354343 69354344 69354344 downstr_intron 16 1.51612903225806 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTCCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1915 993 0.977556444850967 0.999961665855136 0.988759055353052 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0358950559469557 0.0731617782014631 0.993563868591865 0.934230638278842 NA 0.0545284170742094 NA FALSE NA 0 -1.281 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 5/9 1 NA TTC T,C 8.236e-06 6:69354344 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant 0.195463 0.1667 0.00941 0.061011 0.456346636196844 0.0945736 NA NA 4.06494e-06 ENSE00001310733_037 ENSE00001310733 037 6 70064083 70064252 + 42 96 32 C T 70064238 1462 156 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCTCCGATTGTTAATTA 69354190 69354360 69354345 69354346 69354346 downstr_intron 18 1.58064516129032 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCTCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1851 2677 0.998472691573476 0.998592689538208 0.998532690555842 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0568113026694648 0.0717928018845345 0.993563868591865 0.934230638278842 NA 0.0643020522769996 NA FALSE NA 0 -0.646 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 5/9 1 NA CCC C,T 8.236e-06 6:69354346 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant 0.027453 0.17515 0.03271 0.061011 0.609549339266133 0.0945736 NA NA 4.06626e-06 ENSE00001310733_038 ENSE00001310733 038 6 70064083 70064252 + 42 96 32 C T 70064240 1463 158 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCTGATTGTTAATTA 69354190 69354360 69354347 69354348 69354348 downstr_intron 20 1.64516129032258 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCTGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 1413 2702 0.998120958268456 0.998532259051258 0.998326608659857 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0564595693644447 0.0717323713975843 0.993563868591865 0.934230638278842 NA 0.0640959703810145 NA FALSE NA 0.004 0.677 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 5/9 rs373257377 1 NA T:0.0007 T:0 CCG C,T 5.766e-05 6:69354348 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant 0.005169 0.20168 0.0263 0.061011 0.417800322633922 0.0937141 NA NA 4.06693e-05 ENSE00001310733_039 ENSE00001310733 039 6 70064083 70064252 + 42 96 32 G A 70064241 1464 159 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCAATTGTTAATTA 69354190 69354360 69354348 69354349 69354349 downstr_intron 21 1.67741935483871 TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCAATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA mutant NA NA NA NA NA 2247 1664 0.971210135808071 0.999103025624657 0.985156580716364 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA 0.0295487469040594 0.0723031379709842 0.993563868591865 0.934230638278842 NA 0.0509259424375218 NA FALSE NA 0 0.512 . intron_variant MODIFIER BAI3 HGNC 945 ENST00000546190 5/9 1 NA CGA G,A 3.295e-05 6:69354349 ADGRB3 HGNC Symbol protein_coding 754144 ENSG00000135298 ENSE00001310733 intron_variant -0.086144 0.2013 0.06858 0.061011 0.647539998893848 0.0937141 NA NA 2.44031e-05 ENSE00001310733_BRK ENSE00001310733 BRK 6 70064083 70064252 + 42 96 32 A,G; T,T NA NA NA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACTTGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGCCGAGTTTTTATTTTTCCCCGATTGTTAATTA 69354190 69354360 NA NA NA NA NA NA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACTTGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGCCGAGTTTTTATTTTTCCCCGATTGTTAATTA TATTAAGAGAGAAGAAAATTAATGTGTTCCCCCTCCCCACAGGTTCAGGATGCATTTAGATGCCGATTGAGAAACTGTCAGGATCCCATCAATGCAGATTCTTCGAGTTCGTTTCCTAATGGGCATGCTCAAATCATGGTGAGTTTTTATTTTTCCCCGATTGTTAATTA control NA NA NA NA NA 414 307 0.0211478441130894 0 0.0105739220565447 0.997551313898836 0.989576423284895 0.941661388904011 0.926799887653673 NA NA -0.920513544790922 -0.926799887653673 0.993563868591865 0.934230638278842 NA -0.923656716222298 NA TRUE NA NA NA NA NA NA BAI3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADGRB3 NA NA NA ENSG00000135298 ENSE00001310733 NA NA NA NA NA NA NA NA NA NA ENSE00001310981_000 ENSE00001310981 000 17 80962959 80963128 - 32 96 42 NA NA NA NA NA CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 NA NA NA NA NA NA CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT natural 25 43 0.986853306739271 0.970187510102683 0.978520408420977 228 879 0.979218730262819 0.991581341790951 0.985400036026885 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 0 0 0 0 0.978520408420977 0.985400036026885 0 0 0 FALSE FALSE NA NA NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA ENSG00000175711 ENSE00003666709 NA NA NA NA NA NA NA 2.14222358700744e-11 FALSE NA ENSE00001310981_002 ENSE00001310981 002 17 80962959 80963128 - 32 96 42 G T 80962977 3749 152 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGAGCCTTGTCTGGGGCAGGT 83005082 83005252 83005100 83005101 83005101 downstr_intron 14 1.45161290322581 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGAGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 79 15 1 1 1 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA 0.0207812697371805 0.00841865820904941 0.978520408420977 0.985400036026885 NA 0.014599963973115 NA FALSE NA 0.001 0.402 . intron_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 2/9 rs544283449 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CGC G,T 4.942e-05 17:83005101 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 intron_variant -0.428915 0.10342 0.02081 0.099367 0.532754786152752 0.0747388 2.14222358700744e-11 FALSE 5.02008e-05 ENSE00001310981_005 ENSE00001310981 005 17 80962959 80963128 - 32 96 42 C T 80963003 3752 126 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAACTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005126 83005127 83005127 exon -13 0.875 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAACTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 358 88 1 1 1 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA 0.0207812697371805 0.00841865820904941 0.978520408420977 0.985400036026885 NA 0.014599963973115 NA FALSE NA 1 0.484 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 2/10 1 NA GCT C,T 8.237e-06 17:83005127 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 synonymous_variant 0.327094 0.95368 0.49768 0.706298 0.504173431683726 0 2.14222358700744e-11 FALSE 4.08413e-06 ENSE00001310981_006 ENSE00001310981 006 17 80962959 80963128 - 32 96 42 C T 80963009 3753 120 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCAGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005132 83005133 83005133 exon -19 0.8125 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCAGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 279 95 1 0.979383371594163 0.989691685797081 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA 0.0207812697371805 -0.012197970196788 0.978520408420977 0.985400036026885 NA 0.00429164977019625 NA FALSE NA 0 -3.592 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 2/10 rs563157000 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 1.647e-05 17:83005133 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 synonymous_variant 0.627757 0.04988 0.00229 0.706298 0.335111079844342 0 2.14222358700744e-11 FALSE 1.63038e-05 ENSE00001310981_008 ENSE00001310981 008 17 80962959 80963128 - 32 96 42 C T 80963012 3755 117 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACACCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005135 83005136 83005136 exon -22 0.78125 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACACCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 31 469 1 0.998310179530978 0.999155089765489 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA 0.0207812697371805 0.00672883774002764 0.978520408420977 0.985400036026885 NA 0.0137550537386041 NA FALSE NA 0 -3.046 rs145779372 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 2/10 rs145779372 1 NA T:0 T:0.0001 GCG C,T 1.647e-05 17:83005136 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 synonymous_variant 1.248366 0.09552 0.00533 0.706298 0.648924233510598 0 2.14222358700744e-11 FALSE 2.03694e-05 ENSE00001310981_012 ENSE00001310981 012 17 80962959 80963128 - 32 96 42 T C 80963019 3759 110 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCGGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005142 83005143 83005143 exon -29 0.708333333333333 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCGGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 1655 280 0.98049481527644 0.999434750527184 0.989964782901812 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA 0.00127608501362042 0.00785340873623386 0.978520408420977 0.985400036026885 NA 0.00456474687492714 NA FALSE NA 0.996 1.101 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 2/10 1 NA CTG T,C 2.471e-05 17:83005143 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 missense_variant 0.565752 0.9287 0.74208 0.706298 0.638610776887416 0 2.14222358700744e-11 FALSE 1.62829e-05 ENSE00001310981_016 ENSE00001310981 016 17 80962959 80963128 - 32 96 42 T G 80963035 3763 94 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACCCACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005158 83005159 83005159 exon -45 0.541666666666667 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACCCACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant 122 22 0 0.12349591243964 0.06174795621982 44 82 1 1 1 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 -0.986853306739271 -0.846691597663043 0.0207812697371805 0.00841865820904941 0.978520408420977 0.985400036026885 -0.916772452201157 0.014599963973115 0.931372416174272 FALSE TRUE 1 3.932 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 2/10 1 NA GTG T,G 8.236e-06 17:83005159 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 missense_variant 5.850088 0.96615 0.93578 0.706548 0.996583353935523 0 2.14222358700744e-11 FALSE 4.06924e-06 ENSE00001310981_022 ENSE00001310981 022 17 80962959 80963128 - 32 96 42 G T 80963059 3769 70 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATACCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005182 83005183 83005183 exon 28 0.291666666666667 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATACCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 208 176 0.937897322556039 0.988152146373131 0.963024734464585 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA -0.0413214077067809 -0.00342919541781916 0.978520408420977 0.985400036026885 NA -0.0223753015623001 NA FALSE NA 1 4.887 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 2/10 1 NA GGA G,T 8.237e-06 17:83005183 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 missense_variant 5.096417 0.9639 0.95564 0.706298 0.997373886449379 0 2.14222358700744e-11 FALSE 4.0806e-06 ENSE00001310981_025 ENSE00001310981 025 17 80962959 80963128 - 32 96 42 T C 80963086 3772 43 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGGTCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005209 83005210 83005210 exon 1 0.0104166666666667 CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGGTCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 256 230 0.917629599291249 0.99644779020956 0.957038694750404 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA -0.0615891309715709 0.00486644841860917 0.978520408420977 0.985400036026885 NA -0.0283613412764809 NA FALSE NA 1 2.509 rs145163823 splice_region_variant&5_prime_UTR_variant&NMD_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000572977 2/10 rs145163823 1 NA C:0 C:0.0001 ATC T,C 1.647e-05 17:83005210 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 missense_variant 2.121977 0.95819 0.76827 0.706548 0.997557698954784 0 2.14222358700744e-11 FALSE 2.88156e-05 ENSE00001310981_027 ENSE00001310981 027 17 80962959 80963128 - 32 96 42 C T 80963100 3774 29 CCTGACTTTGTTTTGAGCTCTGTCTGCCATTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005223 83005224 83005224 upstr_intron -14 -0.30952380952381 CCTGACTTTGTTTTGAGCTCTGTCTGCCATTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 158 35 1 1 1 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA 0.0207812697371805 0.00841865820904941 0.978520408420977 0.985400036026885 NA 0.014599963973115 NA FALSE NA 0 -1.579 rs141480675 intron_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 1/9 rs141480675 1 T:0.0006 T:0.0008 T:0 NA T:0.002 T:0 T:0 T:0 T:0.0001 ACG C,T 0.0002636 17:83005224 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 intron_variant -0.286912 0.1092 0.00273 0.062308 0.436523799848496 0.0616878 2.14222358700744e-11 FALSE 0.000183698 ENSE00001310981_028 ENSE00001310981 028 17 80962959 80963128 - 32 96 42 G A 80963101 3775 28 CCTGACTTTGTTTTGAGCTCTGTCTGCTGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005224 83005225 83005225 upstr_intron -15 -0.333333333333333 CCTGACTTTGTTTTGAGCTCTGTCTGCTGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 36 343 0.938296408777182 0.971560883776677 0.954928646276929 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA -0.0409223214856377 -0.0200204580142737 0.978520408420977 0.985400036026885 NA -0.0304713897499557 NA FALSE NA 0 -1.641 . intron_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 1/9 rs200891119 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGG G,A 4.942e-05 17:83005225 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 intron_variant -0.877198 0.05392 0.00073 0.062308 0.51729138243478 0.0616878 2.14222358700744e-11 FALSE 3.34401e-05 ENSE00001310981_029 ENSE00001310981 029 17 80962959 80963128 - 32 96 42 A G 80963104 3776 25 CCTGACTTTGTTTTGAGCTCTGTCCGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT 83005082 83005252 83005227 83005228 83005228 upstr_intron -18 -0.404761904761905 CCTGACTTTGTTTTGAGCTCTGTCCGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT CCTGACTTTGTTTTGAGCTCTGTCTGCCGTTGTTTTTCACAGATCATTGGTTGCAGAGTGAGGAGAGATCCCCCTAACTCCACCGAACGATACACACGTTGGATCAACCAGCTGACGCCGGAGCAGCTCCTAACCCAGGTACCTCGCCTGGCGCCTTGTCTGGGGCAGGT mutant NA NA NA NA NA 168 998 0.97609492242443 1 0.988047461212215 0.986853306739271 0.970187510102683 0.979218730262819 0.991581341790951 NA NA -0.00312380783838906 0.00841865820904941 0.978520408420977 0.985400036026885 NA 0.00264742518533018 NA FALSE NA 0.066 1.192 . intron_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 1/9 1 NA CAG A,G 8.237e-06 17:83005228 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003666709 intron_variant -0.063798 0.18901 0.02728 0.062308 0.331795493053308 0.0616878 2.14222358700744e-11 FALSE 4.1896e-06 ENSE00001311193_000 ENSE00001311193 000 20 19634653 19634822 + 53 75 42 NA NA NA NA NA ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 NA NA NA NA NA NA ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT natural 33 40 0.998566438115291 0.988550227608787 0.993558332862039 3844 4983 0.953220654060516 0.952212803527985 0.95271672879425 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 0 0 0 0 0.993558332862039 0.95271672879425 0 0 0 FALSE FALSE NA NA NA NA NA SLC24A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A3 NA NA NA ENSG00000185052 ENSE00001311193 NA NA NA NA NA NA NA 0.959518180659547 TRUE NA ENSE00001311193_001 ENSE00001311193 001 20 19634653 19634822 + 53 75 42 C T 19634665 508 13 ATCTCATTTGTATAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654020 19654021 19654021 upstr_intron -41 -0.754716981132076 ATCTCATTTGTATAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 428 2285 1 0.998969415944952 0.999484707972476 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0467793459394842 0.0467566124169677 0.993558332862039 0.95271672879425 NA 0.0467679791782259 NA FALSE NA 0 -2.489 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 6/16 1 NA ACA C 8.237e-06 20:19654021 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 intron_variant -0.079756 0.12795 0.00066 0.053691 0.462655783010047 0.0448725 0.959518180659547 TRUE 4.16431e-06 ENSE00001311193_002 ENSE00001311193 002 20 19634653 19634822 + 53 75 42 A G 19634666 509 14 ATCTCATTTGTACGGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654021 19654022 19654022 upstr_intron -40 -0.735849056603774 ATCTCATTTGTACGGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 118 910 1 0.850760073917901 0.925380036958951 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0467793459394842 -0.101452729610083 0.993558332862039 0.95271672879425 NA -0.0273366918352996 NA FALSE NA 0 -3.152 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 6/16 1 NA CAG A 1.647e-05 20:19654022 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 intron_variant -0.078053 0.13501 0.01843 0.053691 0.491462881007997 0.0860863 0.959518180659547 TRUE 2.08033e-05 ENSE00001311193_003 ENSE00001311193 003 20 19634653 19634822 + 53 75 42 A G 19634671 510 19 ATCTCATTTGTACAGTCTGTATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654026 19654027 19654027 upstr_intron -35 -0.641509433962264 ATCTCATTTGTACAGTCTGTATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 836 405 0.9945908026712 0.996863052644453 0.995726927657827 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0413701486106843 0.0446502491164688 0.993558332862039 0.95271672879425 NA 0.0430101988635765 NA FALSE NA 0.01 2.138 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 6/16 1 NA TAT A 1.647e-05 20:19654027 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 intron_variant -0.071555 0.16746 0.08585 0.053691 0.379925084942903 0.0840473 0.959518180659547 TRUE 1.23364e-05 ENSE00001311193_006 ENSE00001311193 006 20 19634653 19634822 + 53 75 42 T G 19634695 513 43 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCGTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654050 19654051 19654051 upstr_intron -11 -0.188679245283019 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCGTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 401 662 0.832184025670587 0.999761024800496 0.915972525235541 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA -0.121036628389929 0.0475482212725115 0.993558332862039 0.95271672879425 NA -0.0367442035587089 NA FALSE NA 0 0.004 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 6/16 1 NA CTT T 8.236e-06 20:19654051 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 intron_variant 0.086847 0.16262 0.10045 0.053691 0.413879883764989 0.143241 0.959518180659547 TRUE 1.22134e-05 ENSE00001311193_007 ENSE00001311193 007 20 19634653 19634822 + 53 75 42 G A 19634697 514 45 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTATCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654052 19654053 19654053 upstr_intron -9 -0.150943396226415 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTATCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 695 396 1 0.999600416191526 0.999800208095763 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0467793459394842 0.0473876126635417 0.993558332862039 0.95271672879425 NA 0.047083479301513 NA FALSE NA 0 -0.054 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 6/16 1 NA TGT G 8.236e-06 20:19654053 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 intron_variant -0.505774 0.10896 0.02514 0.053691 0.574772459696435 0.138203 0.959518180659547 TRUE 4.06898e-06 ENSE00001311193_008 ENSE00001311193 008 20 19634653 19634822 + 53 75 42 C G 19634703 515 51 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGGAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654058 19654059 19654059 upstr_intron -3 -0.0377358490566038 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGGAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 51 149 0 0 0 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA -0.953220654060516 -0.952212803527985 0.993558332862039 0.95271672879425 NA -0.95271672879425 NA TRUE NA 0.001 -0.565 rs142561106 splice_region_variant&intron_variant LOW SLC24A3 HGNC 10977 ENST00000328041 6/16 rs142561106 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GCA C 8.236e-06 20:19654059 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 splice_region_variant -0.234401 0.15998 0.03112 0.074636 0.456799131497693 0.165296 0.959518180659547 TRUE NA ENSE00001311193_009 ENSE00001311193 009 20 19634653 19634822 + 53 75 42 G A 19634706 516 54 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGATTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654061 19654062 19654062 exon 1 0.0133333333333333 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGATTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 528 894 0.993574291581657 0.999138106987562 0.99635619928461 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0403536375211415 0.0469253034595773 0.993558332862039 0.95271672879425 NA 0.0436394704903594 NA FALSE NA 1 5.247 . missense_variant&splice_region_variant MODERATE SLC24A3 HGNC 10977 ENST00000328041 7/17 1 tolerated(0.18) possibly_damaging(0.491) NA GGT G 8.236e-06 20:19654062 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 missense_variant 3.88641 0.98293 0.9122 0.638212 0.996201787767157 0 0.959518180659547 TRUE 4.06468e-06 ENSE00001311193_010 ENSE00001311193 010 20 19634653 19634822 + 53 75 42 T C 19634717 517 65 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTCTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654072 19654073 19654073 exon 12 0.16 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTCTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 414 39 0.998095862287083 1 0.999047931143542 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0448752082265673 0.0477871964720153 0.993558332862039 0.95271672879425 NA 0.0463312023492913 NA FALSE NA 0.566 -0.889 . synonymous_variant LOW SLC24A3 HGNC 10977 ENST00000328041 7/17 1 NA TTT T 8.236e-06 20:19654073 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 synonymous_variant 0.206239 0.39718 0.09456 0.638212 0.667621992124186 0 0.959518180659547 TRUE 4.06345e-06 ENSE00001311193_011 ENSE00001311193 011 20 19634653 19634822 + 53 75 42 T C 19634721 518 69 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCCCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654076 19654077 19654077 exon 16 0.213333333333333 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCCCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 227 2434 1 0.998216011505466 0.999108005752733 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0467793459394842 0.0460032079774809 0.993558332862039 0.95271672879425 NA 0.0463912769584826 NA FALSE NA 1 4.243 . missense_variant MODERATE SLC24A3 HGNC 10977 ENST00000328041 7/17 1 deleterious(0.02) possibly_damaging(0.53) NA CTC T 8.236e-06 20:19654077 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 missense_variant 5.96881 0.97964 0.86116 0.638212 0.998311808566251 0 0.959518180659547 TRUE 4.06322e-06 ENSE00001311193_014 ENSE00001311193 014 20 19634653 19634822 + 53 75 42 C G 19634743 521 91 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTGTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654098 19654099 19654099 exon -38 0.506666666666667 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTGTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 908 770 0.993505175220519 1 0.99675258761026 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0402845211600033 0.0477871964720153 0.993558332862039 0.95271672879425 NA 0.0440358588160093 NA FALSE NA 0.989 4.135 rs147680736 missense_variant MODERATE SLC24A3 HGNC 10977 ENST00000328041 7/17 rs147680736&COSM3423531 1 deleterious(0) probably_damaging(0.988) G:0.0006 G:0.0008 G:0 NA G:0 G:0.002 G:0 G:0 G:0.0028 TCT C 0.002446 20:19654099 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 missense_variant 4.860563 0.98173 0.89533 0.638212 0.98978571729122 0 0.959518180659547 TRUE 0.00185716 ENSE00001311193_015 ENSE00001311193 015 20 19634653 19634822 + 53 75 42 T C 19634747 522 95 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATCTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654102 19654103 19654103 exon -34 0.56 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATCTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 189 845 0.998023669907359 0.974519821620132 0.986271745763746 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0448030158468437 0.0223070180921474 0.993558332862039 0.95271672879425 NA 0.0335550169694955 NA FALSE NA 0.993 0.026 rs3790279 synonymous_variant LOW SLC24A3 HGNC 10977 ENST00000328041 7/17 rs3790279&COSM3758471 1 T:0.4501 C:0.7458 C:0.572 NA C:0.2669 C:0.6332 C:0.4755 C:0.7256 C:0.6248 TTT T 0.582 20:19654103 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 synonymous_variant 0.767185 0.94988 0.3275 0.638212 0.763471261863873 0 0.959518180659547 TRUE 0.57555 ENSE00001311193_016 ENSE00001311193 016 20 19634653 19634822 + 53 75 42 G A 19634756 523 104 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACACTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654111 19654112 19654112 exon -25 0.68 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACACTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 287 1123 0.867188274584825 0.845987275028029 0.856587774806427 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA -0.0860323794756911 -0.106225528499955 0.993558332862039 0.95271672879425 NA -0.0961289539878232 NA FALSE NA 0.008 -1.98 . synonymous_variant LOW SLC24A3 HGNC 10977 ENST00000328041 7/17 rs199574647 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G 4.118e-05 20:19654112 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 synonymous_variant 1.144462 0.71715 0.02848 0.638212 0.58641906768413 0 0.959518180659547 TRUE 2.84477e-05 ENSE00001311193_017 ENSE00001311193 017 20 19634653 19634822 + 53 75 42 C T 19634768 524 116 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATTGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654123 19654124 19654124 exon -13 0.84 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATTGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 895 438 0.723433884351085 0.892642361892389 0.808038123121737 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA -0.22978676970943 -0.0595704416355952 0.993558332862039 0.95271672879425 NA -0.144678605672513 NA FALSE NA 0.001 -2.964 . synonymous_variant LOW SLC24A3 HGNC 10977 ENST00000328041 7/17 1 NA TCG C 1.647e-05 20:19654124 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 synonymous_variant 1.778551 0.16235 0.0064 0.638212 0.669117111104482 0 0.959518180659547 TRUE NA ENSE00001311193_018 ENSE00001311193 018 20 19634653 19634822 + 53 75 42 G A 19634769 525 117 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCACGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654124 19654125 19654125 exon -12 0.853333333333333 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCACGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 1486 526 0.803537598287318 0.999419081194987 0.901478339741153 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA -0.149683055773197 0.0472062776670025 0.993558332862039 0.95271672879425 NA -0.0512383890530975 NA FALSE NA 0.992 5.247 . missense_variant MODERATE SLC24A3 HGNC 10977 ENST00000328041 7/17 1 tolerated(0.27) benign(0.272) NA CGC G 1.647e-05 20:19654125 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 missense_variant 2.751347 0.93557 0.87845 0.638212 0.987625730514156 0 0.959518180659547 TRUE 1.22004e-05 ENSE00001311193_020 ENSE00001311193 020 20 19634653 19634822 + 53 75 42 G A 19634771 527 119 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCACTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654126 19654127 19654127 exon -10 0.88 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCACTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 2895 263 0.926808401607787 0.987702323227414 0.9572553624176 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA -0.0264122524527292 0.0354895196994295 0.993558332862039 0.95271672879425 NA 0.00453863362335016 NA FALSE NA 0.003 -3 rs145658374 synonymous_variant LOW SLC24A3 HGNC 10977 ENST00000328041 7/17 rs145658374 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGC G 5.765e-05 20:19654127 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 synonymous_variant 0.937885 0.32058 0.00936 0.638212 0.466478986202329 0 0.959518180659547 TRUE 4.06722e-05 ENSE00001311193_021 ENSE00001311193 021 20 19634653 19634822 + 53 75 42 G A 19634778 528 126 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCATGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 19654133 19654134 19654134 exon -3 0.973333333333333 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCATGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 218 639 1 0.988566027075671 0.994283013537836 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0467793459394842 0.0363532235476867 0.993558332862039 0.95271672879425 NA 0.0415662847435854 NA FALSE NA 0.999 3.694 . missense_variant&splice_region_variant MODERATE SLC24A3 HGNC 10977 ENST00000328041 7/17 rs375935409 1 tolerated(0.25) benign(0.378) NA CGT G 8.236e-06 20:19654134 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 missense_variant 2.317104 0.96468 0.81079 0.638212 0.995025328090285 0 0.959518180659547 TRUE 4.06918e-06 ENSE00001311193_022 ENSE00001311193 022 20 19634653 19634822 + 53 75 42 C T 19634808 529 156 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCTATCAGTGCTCTTTT 19654008 19654178 19654163 19654164 19654164 downstr_intron 28 1.68292682926829 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCTATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 2553 331 0.995698057857104 0.99952189843693 0.997609978147017 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0424774037965883 0.0473090949089457 0.993558332862039 0.95271672879425 NA 0.044893249352767 NA FALSE NA 0 -2.764 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 7/16 rs372806231 1 T:0.0008 T:0.003 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 CCA C 4.118e-05 20:19654164 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 intron_variant 0.186831 0.11433 0.0041 0.053691 0.79899327389007 0.0448206 0.959518180659547 TRUE 2.45827e-05 ENSE00001311193_023 ENSE00001311193 023 20 19634653 19634822 + 53 75 42 C G 19634811 530 159 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATGAGTGCTCTTTT 19654008 19654178 19654166 19654167 19654167 downstr_intron 31 1.75609756097561 ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATGAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT mutant NA NA NA NA NA 463 1722 0.995593999093348 0.99966780488202 0.997630901987684 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 NA NA 0.0423733450328326 0.0474550013540355 0.993558332862039 0.95271672879425 NA 0.044914173193434 NA FALSE NA 0 -0.117 . intron_variant MODIFIER SLC24A3 HGNC 10977 ENST00000328041 7/16 1 NA TCA C 8.236e-06 20:19654167 SLC24A3 HGNC Symbol protein_coding 510291 ENSG00000185052 ENSE00001311193 intron_variant 0.008639 0.15285 0.02352 0.053691 0.385503092284659 0.0448206 0.959518180659547 TRUE 4.10182e-06 ENSE00001311193_BRK ENSE00001311193 BRK 20 19634653 19634822 + 53 75 42 A,G; T,T NA NA NA ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCTTGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGCCGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT 19654008 19654178 NA NA NA NA NA NA ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCTTGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGCCGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT ATCTCATTTGTACAGTCTATATCCTGTTTGACTTTGTTTCCCTTGTCCTGCAGGTTGTGGCTCTTTCCTCCTGGTGCCTGCTGAGGGATTCTATTTACTACACGCTGTCTGTGATCGCGCTCATCGTGGTGAGTCACTCTGGCCATTTCAGCTCCCATCAGTGCTCTTTT control 71 162 0 0 0 NA NA NA NA NA 0.998566438115291 0.988550227608787 0.953220654060516 0.952212803527985 -0.998566438115291 -0.988550227608787 NA NA 0.993558332862039 0.95271672879425 -0.993558332862039 NA NA NA TRUE NA NA NA NA NA SLC24A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC24A3 NA NA NA ENSG00000185052 ENSE00001311193 NA NA NA NA NA NA NA 0.959518180659547 TRUE NA ENSE00001311808_000 ENSE00001311808 000 13 114498076 114498245 + 45 90 35 NA NA NA NA NA GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 NA NA NA NA NA NA GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC natural 54 51 0.997954794119125 0.987166041044714 0.992560417581919 461 238 0.987773020103857 0.815697621373277 0.901735320738567 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 0 0 0 0 0.992560417581919 0.901735320738567 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM255B NA NA NA ENSG00000184497 ENSE00003690922 NA NA NA NA NA NA NA 3.85360358148072e-10 FALSE NA ENSE00001311808_001 ENSE00001311808 001 13 114498076 114498245 + 45 90 35 G C 114498089 809 14 GGGGTTGGTAAAACCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795115 113795116 113795116 upstr_intron -32 -0.688888888888889 GGGGTTGGTAAAACCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 448 66 0.996473750292249 0.998838359799461 0.997656055045855 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.00870073018839146 0.183140738426184 0.992560417581919 0.901735320738567 NA 0.0959207343072879 NA FALSE NA 0 -0.583 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 13:113795116 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 intron_variant -0.568258 0.05998 0.06048 0.099367 0.421439584052379 0.0549568 3.85360358148072e-10 FALSE 4.09494e-06 ENSE00001311808_002 ENSE00001311808 002 13 114498076 114498245 + 45 90 35 G T 114498089 810 14 GGGGTTGGTAAAATCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795115 113795116 113795116 upstr_intron -32 -0.688888888888889 GGGGTTGGTAAAATCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 125 302 0.936484439954214 0.999494338610395 0.967989389282305 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA -0.0512885801496428 0.183796717237118 0.992560417581919 0.901735320738567 NA 0.0662540685437378 NA FALSE NA 0 -0.583 NA NA NA TMEM255B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM255B NA NA NA ENSG00000184497 ENSE00003690922 intron_variant -0.440247 0.06072 0.06019 0.099367 0.545652480660549 0.0549568 3.85360358148072e-10 FALSE 4.09494e-06 ENSE00001311808_003 ENSE00001311808 003 13 114498076 114498245 + 45 90 35 C T 114498095 811 20 GGGGTTGGTAAAAGCTGGGTACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795121 113795122 113795122 upstr_intron -26 -0.555555555555556 GGGGTTGGTAAAAGCTGGGTACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 291 30 0.995422912924062 1 0.997711456462031 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.00764989282020501 0.184302378626723 0.992560417581919 0.901735320738567 NA 0.0959761357234641 NA FALSE NA 0 -0.897 rs75283578 intron_variant MODIFIER TMEM255B HGNC 28297 ENST00000375348 3/5 rs75283578 1 T:0.0106 T:0.0363 T:0.0072 NA T:0 T:0 T:0 T:0.0354 T:0 GCA C,T 0.00299 13:113795122 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 intron_variant 0.137802 0.08195 0.03205 0.099367 0.813169576204797 0.0549568 3.85360358148072e-10 FALSE 0.00236961 ENSE00001311808_004 ENSE00001311808 004 13 114498076 114498245 + 45 90 35 C T 114498097 812 22 GGGGTTGGTAAAAGCTGGGCATCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795123 113795124 113795124 upstr_intron -24 -0.511111111111111 GGGGTTGGTAAAAGCTGGGCATCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 34 127 1 0.973018723331461 0.986509361665731 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0122269798961429 0.157321101958185 0.992560417581919 0.901735320738567 NA 0.0847740409271638 NA FALSE NA 0 0.306 . intron_variant MODIFIER TMEM255B HGNC 28297 ENST00000375348 3/5 1 NA ACC C,T 8.237e-06 13:113795124 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 intron_variant 0.339769 0.12882 0.09789 0.099367 0.822550998591677 0.0549568 3.85360358148072e-10 FALSE 4.08067e-06 ENSE00001311808_005 ENSE00001311808 005 13 114498076 114498245 + 45 90 35 C G 114498099 813 24 GGGGTTGGTAAAAGCTGGGCACCGACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795125 113795126 113795126 upstr_intron -22 -0.466666666666667 GGGGTTGGTAAAAGCTGGGCACCGACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 153 99 0.9989190980558 0.976638854765841 0.98777897641082 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0111460779519429 0.160941233392564 0.992560417581919 0.901735320738567 NA 0.0860436556722535 NA FALSE NA 0 0.017 . intron_variant MODIFIER TMEM255B HGNC 28297 ENST00000375348 3/5 1 NA CCA C,G 8.237e-06 13:113795126 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 intron_variant 0.351454 0.25477 0.18923 0.099367 0.596261444377467 0.567374 3.85360358148072e-10 FALSE 4.07847e-06 ENSE00001311808_006 ENSE00001311808 006 13 114498076 114498245 + 45 90 35 C T 114498104 814 29 GGGGTTGGTAAAAGCTGGGCACCCACACTTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795130 113795131 113795131 upstr_intron -17 -0.355555555555556 GGGGTTGGTAAAAGCTGGGCACCCACACTTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant 24 12 0.916879801411095 0.85 0.883439900705548 35 607 1 0.991694750651874 0.995847375325937 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 -0.0810749927080298 -0.137166041044714 0.0122269798961429 0.175997129278597 0.992560417581919 0.901735320738567 -0.109120516876372 0.09411205458737 0.203232571463742 FALSE FALSE 0 0.886 . intron_variant MODIFIER TMEM255B HGNC 28297 ENST00000375348 3/5 1 NA CCT C,T 8.236e-06 13:113795131 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 intron_variant 0.240729 0.1446 0.13246 0.099367 0.706196775980574 0.0549568 3.85360358148072e-10 FALSE 4.07415e-06 ENSE00001311808_007 ENSE00001311808 007 13 114498076 114498245 + 45 90 35 C T 114498106 815 31 GGGGTTGGTAAAAGCTGGGCACCCACACCTTTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795132 113795133 113795133 upstr_intron -15 -0.311111111111111 GGGGTTGGTAAAAGCTGGGCACCCACACCTTTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 35 18 1 1 1 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0122269798961429 0.184302378626723 0.992560417581919 0.901735320738567 NA 0.0982646792614331 NA FALSE NA 0.005 -1.801 . intron_variant MODIFIER TMEM255B HGNC 28297 ENST00000375348 3/5 1 NA TCT C,T 8.236e-06 13:113795133 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 intron_variant 0.133171 0.0754 0.07479 0.099367 0.616628164697894 0.0549568 3.85360358148072e-10 FALSE 4.07292e-06 ENSE00001311808_008 ENSE00001311808 008 13 114498076 114498245 + 45 90 35 G T 114498123 816 48 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTTGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795149 113795150 113795150 exon 3 0.0333333333333333 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTTGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 63 109 1 1 1 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0122269798961429 0.184302378626723 0.992560417581919 0.901735320738567 NA 0.0982646792614331 NA FALSE NA 1 2.022 rs151107969 splice_region_variant&synonymous_variant LOW TMEM255B HGNC 28297 ENST00000375348 4/6 rs151107969 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TGG G,T 5.766e-05 13:113795150 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 splice_region_variant 0.660193 0.85503 0.88209 0.706548 0.738922705358765 0 3.85360358148072e-10 FALSE 4.88265e-05 ENSE00001311808_010 ENSE00001311808 010 13 114498076 114498245 + 45 90 35 C T 114498135 818 60 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATTGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795161 113795162 113795162 exon 15 0.166666666666667 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATTGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant 99 165 0.891427887495017 0.85 0.870713943747509 1050 1650 0.799349453954379 0.815020666214206 0.807185060084292 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 -0.106526906624108 -0.137166041044714 -0.188423566149478 -0.00067695515907118 0.992560417581919 0.901735320738567 -0.121846473834411 -0.0945502606542746 0.0272962131801361 FALSE FALSE 0 -2.396 rs140117605 synonymous_variant LOW TMEM255B HGNC 28297 ENST00000375348 4/6 rs140117605 1 NA T:0.0002 T:0.0002 TCG C,T 1.647e-05 13:113795162 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 synonymous_variant 0.772584 0.11689 0.0927 0.706548 0.735226462770884 0 3.85360358148072e-10 FALSE 2.44053e-05 ENSE00001311808_011 ENSE00001311808 011 13 114498076 114498245 + 45 90 35 G A 114498136 819 61 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCATGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795162 113795163 113795163 exon 16 0.177777777777778 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCATGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant 31 24 0.85 0.85 0.85 413 10 0.86235135462375 0.8 0.831175677311875 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 -0.147954794119125 -0.137166041044714 -0.125421665480107 -0.0156976213732767 0.992560417581919 0.901735320738567 -0.142560417581919 -0.0705596434266918 0.0720007741552277 FALSE FALSE 1 3.236 . missense_variant MODERATE TMEM255B HGNC 28297 ENST00000375348 4/6 1 probably_damaging(0.997) NA CGT G,A 3.295e-05 13:113795163 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 missense_variant 5.115741 0.86842 0.86071 0.706548 0.99815250017312 0 3.85360358148072e-10 FALSE 2.03376e-05 ENSE00001311808_012 ENSE00001311808 012 13 114498076 114498245 + 45 90 35 T G 114498140 820 65 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTGTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795166 113795167 113795167 exon 20 0.222222222222222 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTGTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 670 55 0.928263499560023 0.997113535485147 0.962688517522585 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA -0.0595095205438341 0.18141591411187 0.992560417581919 0.901735320738567 NA 0.0609531967840179 NA FALSE NA 1 6.589 . missense_variant MODERATE TMEM255B HGNC 28297 ENST00000375348 4/6 1 probably_damaging(0.997) NA TTT T,G 8.236e-06 13:113795167 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 missense_variant 4.972574 0.92146 0.96597 0.706548 0.987808600326074 0 3.85360358148072e-10 FALSE 4.06656e-06 ENSE00001311808_013 ENSE00001311808 013 13 114498076 114498245 + 45 90 35 C T 114498144 821 69 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATTAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795170 113795171 113795171 exon 24 0.266666666666667 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATTAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant 19 19 0.85 0.85 0.85 NA NA NA NA NA 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 -0.147954794119125 -0.137166041044714 NA NA 0.992560417581919 0.901735320738567 -0.142560417581919 NA NA NA FALSE 1 4.608 rs150290657 synonymous_variant LOW TMEM255B HGNC 28297 ENST00000375348 4/6 rs150290657 1 NA T:0 T:0.0001 TCA C,T 1.647e-05 13:113795171 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 synonymous_variant 0.918772 0.90305 0.94361 0.706548 0.731913440411883 0 3.85360358148072e-10 FALSE 8.13365e-06 ENSE00001311808_014 ENSE00001311808 014 13 114498076 114498245 + 45 90 35 A G 114498145 822 70 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCGGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795171 113795172 113795172 exon 25 0.277777777777778 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCGGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 501 357 1 1 1 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0122269798961429 0.184302378626723 0.992560417581919 0.901735320738567 NA 0.0982646792614331 NA FALSE NA 1 7.639 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 13:113795172 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 missense_variant 3.134884 0.92161 0.97323 0.706548 0.997692029317662 0 3.85360358148072e-10 FALSE 1.22008e-05 ENSE00001311808_015 ENSE00001311808 015 13 114498076 114498245 + 45 90 35 A C 114498145 823 70 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCCGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795171 113795172 113795172 exon 25 0.277777777777778 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCCGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 16 97 1 1 1 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0122269798961429 0.184302378626723 0.992560417581919 0.901735320738567 NA 0.0982646792614331 NA FALSE NA 1 7.639 NA NA NA TMEM255B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM255B NA NA NA ENSG00000184497 ENSE00003690922 missense_variant 4.597722 0.92239 0.97458 0.706548 0.997599945030057 0 3.85360358148072e-10 FALSE 4.06693e-06 ENSE00001311808_016 ENSE00001311808 016 13 114498076 114498245 + 45 90 35 C T 114498153 824 78 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGTGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795179 113795180 113795180 exon 33 0.366666666666667 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGTGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 43 172 1 1 1 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0122269798961429 0.184302378626723 0.992560417581919 0.901735320738567 NA 0.0982646792614331 NA FALSE NA 0.001 -2.853 . synonymous_variant LOW TMEM255B HGNC 28297 ENST00000375348 4/6 1 NA GCG C,T 1.647e-05 13:113795180 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 synonymous_variant 0.780624 0.35008 0.01183 0.706548 0.732169644121799 0 3.85360358148072e-10 FALSE 8.13935e-06 ENSE00001311808_017 ENSE00001311808 017 13 114498076 114498245 + 45 90 35 G C 114498154 825 79 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCCTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795180 113795181 113795181 exon 34 0.377777777777778 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCCTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 96 377 1 0.99916006722705 0.999580033613525 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0122269798961429 0.183462445853773 0.992560417581919 0.901735320738567 NA 0.0978447128749579 NA FALSE NA 1 5.131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 13:113795181 TMEM255B HGNC Symbol protein_coding 57755 ENSG00000184497 ENSE00003690922 missense_variant 4.84718 0.98273 0.92132 0.706548 0.996049732383871 0 3.85360358148072e-10 FALSE 0.00839403 ENSE00001311808_018 ENSE00001311808 018 13 114498076 114498245 + 45 90 35 G A 114498154 826 79 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCATGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 113795180 113795181 113795181 exon 34 0.377777777777778 GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCATGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC mutant NA NA NA NA NA 581 144 0.998084946416996 1 0.999042473208498 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 NA NA 0.0103119263131392 0.184302378626723 0.992560417581919 0.901735320738567 NA 0.0973071524699312 NA FALSE NA 1 5.131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM255B NA NA NA ENSG00000184497 ENSE00003690922 missense_variant 4.80156 0.98132 0.8902 0.706548 0.99863301721415 0 3.85360358148072e-10 FALSE 4.88261e-05 ENSE00001311808_BRK ENSE00001311808 BRK 13 114498076 114498245 + 45 90 35 A,G; T,T NA NA NA GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCTTCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTCCGAGTACATTGTCATTGTGTGCACAGTCGCTTTC 113795102 113795272 NA NA NA NA NA NA GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCTTCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTCCGAGTACATTGTCATTGTGTGCACAGTCGCTTTC GGGGTTGGTAAAAGCTGGGCACCCACACCTCTCCTTCTGTTGCAGCTGGTGGCAGCGATCGTGTTTATCAGTTTTGGCGTGGTGGCCGCCTTCTGCTGCGCCATCGTGGACGGCGTATTTGCAGCACAGCACATTGTGAGTACATTGTCATTGTGTGCACAGTCGCTTTC control 214 151 0 0 0 99 30 0.0465070786579254 0.0721400288700488 0.0593235537639871 0.997954794119125 0.987166041044714 0.987773020103857 0.815697621373277 -0.997954794119125 -0.987166041044714 -0.941265941445932 -0.743557592503228 0.992560417581919 0.901735320738567 -0.992560417581919 -0.84241176697458 0.15014865060734 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003690922 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00001312396_000 ENSE00001312396 000 1 100195176 100195345 - 30 99 41 NA NA NA NA NA ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 NA NA NA NA NA NA ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC natural NA NA NA NA NA 573 581 0.962342969429958 0.838159976024877 0.900251472727418 NA NA 0.962342969429958 0.838159976024877 NA NA 0 0 NA 0.900251472727418 NA 0 NA FALSE NA NA NA NA NA NA FRRS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRRS1 NA NA NA ENSG00000156869 ENSE00001312396 NA NA NA NA NA NA NA 5.4989943969967e-08 FALSE NA ENSE00001312396_002 ENSE00001312396 002 1 100195176 100195345 - 30 99 41 T C 100195203 2671 143 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTGGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729646 99729647 99729647 downstr_intron 3 1.10344827586207 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTGGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 230 131 1 0.988473527491431 0.994236763745716 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.150313551466554 NA 0.900251472727418 NA 0.0939852910182982 NA FALSE NA 0.788 0.949 . splice_region_variant&intron_variant LOW FRRS1 HGNC 27622 ENST00000414213 8/16 rs370967227 1 NA C:0.0002 C:0 CTA T,C 8.237e-06 1:99729647 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 splice_region_variant 0.243253 0.78868 0.62015 0.099367 0.614524434519536 0.209141 5.4989943969967e-08 FALSE 4.09745e-06 ENSE00001312396_004 ENSE00001312396 004 1 100195176 100195345 - 30 99 41 C G 100195220 2673 126 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTCTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729663 99729664 99729664 exon -15 0.858585858585859 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTCTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 1234 28 0.997347948363283 0.931716936604749 0.964532442484016 NA NA 0.962342969429958 0.838159976024877 NA NA 0.035004978933325 0.0935569605798721 NA 0.900251472727418 NA 0.0642809697565985 NA FALSE NA 0.111 0.353 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 8/17 rs539252888 1 benign(0.033) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 ACA C,G 8.236e-06 1:99729664 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 missense_variant 1.81552 0.38954 0.23194 0.562547 0.970504111406231 0 5.4989943969967e-08 FALSE 4.07425e-06 ENSE00001312396_005 ENSE00001312396 005 1 100195176 100195345 - 30 99 41 A C 100195221 2674 125 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCGGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729664 99729665 99729665 exon -16 0.848484848484849 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCGGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 39 57 0.986608402365344 1 0.993304201182672 NA NA 0.962342969429958 0.838159976024877 NA NA 0.024265432935386 0.161840023975123 NA 0.900251472727418 NA 0.0930527284552545 NA FALSE NA 0.782 1.392 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:99729665 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 synonymous_variant -1.013646 0.42088 0.52105 0.562547 0.471535001711231 0 5.4989943969967e-08 FALSE 6.10963e-05 ENSE00001312396_006 ENSE00001312396 006 1 100195176 100195345 - 30 99 41 A G 100195221 2675 125 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCCGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729664 99729665 99729665 exon -16 0.848484848484849 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCCGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 39 255 1 1 1 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.161840023975123 NA 0.900251472727418 NA 0.0997485272725824 NA FALSE NA 0.782 1.392 NA NA NA FRRS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRRS1 NA NA NA ENSG00000156869 ENSE00001312396 synonymous_variant -0.483489 0.41294 0.49505 0.562547 0.455023729430688 0 5.4989943969967e-08 FALSE 4.07309e-06 ENSE00001312396_007 ENSE00001312396 007 1 100195176 100195345 - 30 99 41 G A 100195224 2676 122 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCATCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729667 99729668 99729668 exon -19 0.818181818181818 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCATCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 25 412 1 1 1 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.161840023975123 NA 0.900251472727418 NA 0.0997485272725824 NA FALSE NA 1 0.623 . synonymous_variant LOW FRRS1 HGNC 27622 ENST00000414213 8/17 1 NA GGT G,A 8.236e-06 1:99729668 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 synonymous_variant 0.227989 0.88794 0.50822 0.562547 0.552984549345706 0 5.4989943969967e-08 FALSE 4.0708e-06 ENSE00001312396_008 ENSE00001312396 008 1 100195176 100195345 - 30 99 41 T A 100195225 2677 121 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCTCCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729668 99729669 99729669 exon -20 0.808080808080808 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCTCCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 913 458 0.979565382697431 0.999654533046658 0.989609957872045 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0172224132674731 0.161494557021781 NA 0.900251472727418 NA 0.089358485144627 NA FALSE NA 1 0.976 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 8/17 1 possibly_damaging(0.493) NA GTG T,A 1.647e-05 1:99729669 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 missense_variant 2.903033 0.93382 0.79638 0.562547 0.959696093111231 0 5.4989943969967e-08 FALSE 8.14339e-06 ENSE00001312396_009 ENSE00001312396 009 1 100195176 100195345 - 30 99 41 C T 100195231 2678 115 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCAAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729674 99729675 99729675 exon -26 0.747474747474748 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCAAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 101 137 0.965895660523871 1 0.982947830261935 NA NA 0.962342969429958 0.838159976024877 NA NA 0.00355269109391254 0.161840023975123 NA 0.900251472727418 NA 0.0826963575345178 NA FALSE NA 1 5.632 rs112965495 missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 8/17 rs112965495&COSM1207560&COSM423313 1 probably_damaging(0.997) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCG C,T 0.0001565 1:99729675 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 missense_variant 7.349696 0.9733 0.94041 0.553676 0.999529328115958 0 5.4989943969967e-08 FALSE 0.000268504 ENSE00001312396_012 ENSE00001312396 012 1 100195176 100195345 - 30 99 41 G A 100195244 2681 102 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCTATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729687 99729688 99729688 exon -39 0.616161616161616 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCTATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 72 1256 1 0.99898964595701 0.999494822978505 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.160829669932133 NA 0.900251472727418 NA 0.0992433502510875 NA FALSE NA 0.004 1.581 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 8/17 1 benign(0.006) NA TGG G,A 8.236e-06 1:99729688 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 missense_variant -1.484382 0.24363 0.06287 0.638212 0.168382633716564 0 5.4989943969967e-08 FALSE 4.0658e-06 ENSE00001312396_016 ENSE00001312396 016 1 100195176 100195345 - 30 99 41 A G 100195289 2685 57 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTCATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729732 99729733 99729733 exon 16 0.161616161616162 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTCATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 93 1075 1 0.994319272801803 0.997159636400901 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.156159296776926 NA 0.900251472727418 NA 0.0969081636734839 NA FALSE NA 1 6.725 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 8/17 1 probably_damaging(0.999) NA TAA A,G 8.236e-06 1:99729733 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 missense_variant 6.225786 0.9575 0.94553 0.638212 0.998513236797342 0 5.4989943969967e-08 FALSE 1.22102e-05 ENSE00001312396_017 ENSE00001312396 017 1 100195176 100195345 - 30 99 41 T C 100195297 2686 49 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGGTGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729740 99729741 99729741 exon 8 0.0808080808080808 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGGTGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 232 269 1 1 1 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.161840023975123 NA 0.900251472727418 NA 0.0997485272725824 NA FALSE NA 1 4.179 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 8/17 1 probably_damaging(0.999) NA ATC T,C 8.236e-06 1:99729741 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 missense_variant 6.421832 0.94657 0.86439 0.638212 0.998674104263194 0 5.4989943969967e-08 FALSE 4.09504e-06 ENSE00001312396_018 ENSE00001312396 018 1 100195176 100195345 - 30 99 41 C T 100195298 2687 48 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATAATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729741 99729742 99729742 exon 7 0.0707070707070707 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATAATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 164 203 1 1 1 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.161840023975123 NA 0.900251472727418 NA 0.0997485272725824 NA FALSE NA 1 5.632 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 8/17 1 probably_damaging(0.999) NA TCA C,T 8.236e-06 1:99729742 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 missense_variant 7.166599 0.96946 0.93041 0.638212 0.999281071208346 0 5.4989943969967e-08 FALSE 4.09729e-06 ENSE00001312396_019 ENSE00001312396 019 1 100195176 100195345 - 30 99 41 A G 100195299 2688 47 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGACGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729742 99729743 99729743 exon 6 0.0606060606060606 ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGACGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 86 52 1 1 1 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.161840023975123 NA 0.900251472727418 NA 0.0997485272725824 NA FALSE NA 0.997 0.454 . synonymous_variant LOW FRRS1 HGNC 27622 ENST00000414213 8/17 1 NA CAT A,G 8.236e-06 1:99729743 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 synonymous_variant 0.733202 0.91896 0.66318 0.638212 0.581740004232763 0 5.4989943969967e-08 FALSE NA ENSE00001312396_020 ENSE00001312396 020 1 100195176 100195345 - 30 99 41 T C 100195316 2689 30 ATTCCTTTGAGCTTTTTTTCTCATTTGCAGTTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729759 99729760 99729760 upstr_intron -12 -0.268292682926829 ATTCCTTTGAGCTTTTTTTCTCATTTGCAGTTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 49 261 1 0.999393569083216 0.999696784541608 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.161233593058339 NA 0.900251472727418 NA 0.0994453118141906 NA FALSE NA 0 0.393 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 7/16 1 NA ATT T,C 1.647e-05 1:99729760 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 intron_variant 1.440822 0.26066 0.07318 0.099367 0.853025073321044 0.351441 5.4989943969967e-08 FALSE 1.25736e-05 ENSE00001312396_021 ENSE00001312396 021 1 100195176 100195345 - 30 99 41 A G 100195333 2690 13 ATTCCTTTGAGCCTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729776 99729777 99729777 upstr_intron -29 -0.682926829268293 ATTCCTTTGAGCCTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 469 149 0.986177363387483 0.998937087352482 0.992557225369983 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0238343939575247 0.160777111327605 NA 0.900251472727418 NA 0.092305752642565 NA FALSE NA 0.066 0.27 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 7/16 1 NA AAG A,G 8.239e-06 1:99729777 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 intron_variant -0.280932 0.2232 0.14884 0.099367 0.579490363742466 0.113957 5.4989943969967e-08 FALSE 8.65224e-06 ENSE00001312396_022 ENSE00001312396 022 1 100195176 100195345 - 30 99 41 G C 100195334 2691 12 ATTCCTTTGAGGTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC 99729619 99729789 99729777 99729778 99729778 upstr_intron -30 -0.707317073170732 ATTCCTTTGAGGTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC ATTCCTTTGAGCTTTTTTTCTCATTTGCAATTGTTTTTCAGGGTGATGATGATGCTTATCTGTGTATTCATGAAGATCAGACTGTGTACATCCAGCCTTCCCATTTAACGGGGCGAAGTCACCCTGTAATGGACTCCAGGGTAGGTGTGAAAATTCTGAGAACCTCCACC mutant NA NA NA NA NA 501 290 1 1 1 NA NA 0.962342969429958 0.838159976024877 NA NA 0.0376570305700419 0.161840023975123 NA 0.900251472727418 NA 0.0997485272725824 NA FALSE NA 0.013 0.344 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 7/16 rs376731693 1 NA AGC G,C 2.472e-05 1:99729778 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00001312396 intron_variant -0.324794 0.23217 0.13422 0.099367 0.427204643497048 0.113957 5.4989943969967e-08 FALSE 1.73512e-05 ENSE00001312622_000 ENSE00001312622 000 7 120382520 120382689 + 44 93 33 NA NA NA NA NA GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 NA NA NA NA NA NA TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC natural NA NA NA NA NA 2213 2579 0.99017942061465 0.900924150819841 0.945551785717245 NA NA 0.99017942061465 0.900924150819841 NA NA 0 0 NA 0.945551785717245 NA 0 NA FALSE NA NA NA NA NA NA KCND2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCND2 NA NA NA ENSG00000184408 ENSE00001312622 NA NA NA NA NA NA NA 0.980460832264043 TRUE NA ENSE00001312622_001 ENSE00001312622 001 7 120382520 120382689 + 44 93 33 G T 120382556 2344 37 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAAAAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742501 120742502 120742502 upstr_intron -8 -0.159090909090909 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTTTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 400 482 0.989830211611064 1 0.994915105805532 NA NA 0.99017942061465 0.900924150819841 NA NA -0.000349209003585815 0.0990758491801588 NA 0.945551785717245 NA 0.0493633200882865 NA FALSE NA 0.994 1.289 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 rs201244697 1 NA T:0.0002 T:0.001 TGT G,T 0.0005189 7:120742502 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 splice_region_variant 1.635003 0.97665 0.91922 0.162113 0.864643129766455 0.474748 0.980460832264043 TRUE 0.00065502 ENSE00001312622_002 ENSE00001312622 002 7 120382520 120382689 + 44 93 33 T G 120382557 2345 38 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTACCAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742502 120742503 120742503 upstr_intron -7 -0.136363636363636 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGGTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 103 617 1 0.995627261766468 0.997813630883234 NA NA 0.99017942061465 0.900924150819841 NA NA 0.00982057938535041 0.0947031109466266 NA 0.945551785717245 NA 0.0522618451659885 NA FALSE NA 0.955 2.438 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 1 NA GTT T,G 8.236e-06 7:120742503 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 splice_region_variant 1.860651 0.99008 0.98066 0.162113 0.951015839578609 0.861606 0.980460832264043 TRUE 8.1367e-06 ENSE00001312622_003 ENSE00001312622 003 7 120382520 120382689 + 44 93 33 T G 120382575 2346 56 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCCTCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742520 120742521 120742521 exon 12 0.129032258064516 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGAGGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 257 1469 1 0.940964927696574 0.970482463848287 NA NA 0.99017942061465 0.900924150819841 NA NA 0.00982057938535041 0.0400407768767328 NA 0.945551785717245 NA 0.0249306781310416 NA FALSE NA 0.758 0.002 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 1 NA ATG T,G 8.236e-06 7:120742521 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 missense_variant -0.116629 0.57819 0.44953 0.615465 0.657752412726601 0 0.980460832264043 TRUE 4.06769e-06 ENSE00001312622_006 ENSE00001312622 006 7 120382520 120382689 + 44 93 33 G A 120382601 2349 82 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGTCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742546 120742547 120742547 exon 38 0.408602150537634 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGACTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 2033 214 0.99809201697846 0.999081215218085 0.998586616098272 NA NA 0.99017942061465 0.900924150819841 NA NA 0.00791259636381003 0.0981570643982439 NA 0.945551785717245 NA 0.053034830381027 NA FALSE NA 1 2.07 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 rs556564290 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGC G,A 1.647e-05 7:120742547 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 missense_variant 1.7687 0.98306 0.87232 0.615465 0.949164777763952 0 0.980460832264043 TRUE 8.13597e-06 ENSE00001312622_007 ENSE00001312622 007 7 120382520 120382689 + 44 93 33 C T 120382604 2350 85 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGAAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742549 120742550 120742550 exon 41 0.440860215053763 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTTCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 415 212 1 0.99925326496788 0.99962663248394 NA NA 0.99017942061465 0.900924150819841 NA NA 0.00982057938535041 0.0983291141480391 NA 0.945551785717245 NA 0.0540748467666948 NA FALSE NA 1 7.21 rs146058924 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 rs146058924 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0041 T:0 TCC C,T 0.00028 7:120742550 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 missense_variant 7.043942 0.99434 0.98464 0.741868 0.998693209082187 0 0.980460832264043 TRUE 0.000248133 ENSE00001312622_008 ENSE00001312622 008 7 120382520 120382689 + 44 93 33 G C 120382607 2351 88 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGGTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742552 120742553 120742553 exon 44 0.473118279569892 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCACCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 1485 175 1 1 1 NA NA 0.99017942061465 0.900924150819841 NA NA 0.00982057938535041 0.0990758491801588 NA 0.945551785717245 NA 0.0544482142827546 NA FALSE NA 0.997 2.278 rs140087318 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 rs140087318 1 C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 AGC G,C 8.236e-05 7:120742553 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 missense_variant 1.714229 0.98563 0.7657 0.741868 0.708184711821466 0 0.980460832264043 TRUE 5.69509e-05 ENSE00001312622_009 ENSE00001312622 009 7 120382520 120382689 + 44 93 33 A G 120382625 2352 106 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGCGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742570 120742571 120742571 exon -32 0.666666666666667 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCGCCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 1244 449 0.943381101044744 0.999562574071192 0.971471837557968 NA NA 0.99017942061465 0.900924150819841 NA NA -0.0467983195699052 0.098638423251351 NA 0.945551785717245 NA 0.0259200518407229 NA FALSE NA 1 8.626 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 COSM3877545 1 NA CAC A,G 8.236e-06 7:120742571 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 missense_variant 5.941082 0.9927 0.9901 0.615465 0.997569309897645 0 0.980460832264043 TRUE 4.07027e-06 ENSE00001312622_011 ENSE00001312622 011 7 120382520 120382689 + 44 93 33 C T 120382630 2354 111 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAAGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742575 120742576 120742576 exon -27 0.720430107526882 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACTTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 229 381 0.987500830780653 0.997976908189223 0.992738869484938 NA NA 0.99017942061465 0.900924150819841 NA NA -0.00267858983399683 0.0970527573693818 NA 0.945551785717245 NA 0.0471870837676925 NA FALSE NA 1 4.41 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 rs370190131 1 NA T:0 T:0.0005 CCT C,T 0.0005436 7:120742576 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 synonymous_variant 1.704368 0.99056 0.96248 0.615465 0.792033705242212 0 0.980460832264043 TRUE 0.000606682 ENSE00001312622_012 ENSE00001312622 012 7 120382520 120382689 + 44 93 33 A T 120382637 2355 118 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGAGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742582 120742583 120742583 exon -20 0.795698924731183 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCTCTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 489 899 1 0.997414403434384 0.998707201717192 NA NA 0.99017942061465 0.900924150819841 NA NA 0.00982057938535041 0.096490252614543 NA 0.945551785717245 NA 0.0531554159999467 NA FALSE NA 1 6.84 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 1 NA CAC A,T 8.237e-06 7:120742583 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 missense_variant 4.78599 0.99271 0.98522 0.615465 0.972522708010889 0 0.980460832264043 TRUE 4.07378e-06 ENSE00001312622_013 ENSE00001312622 013 7 120382520 120382689 + 44 93 33 C T 120382641 2356 122 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACCGTGGTTTTTTCCAGACAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742586 120742587 120742587 exon -16 0.838709677419355 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGTCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 307 700 0.998516045773173 0.999945614800118 0.999230830286646 NA NA 0.99017942061465 0.900924150819841 NA NA 0.00833662515852385 0.099021463980277 NA 0.945551785717245 NA 0.0536790445694004 NA FALSE NA 1 2.148 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/3 1 NA GCC C,T 8.237e-06 7:120742587 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 synonymous_variant 1.97828 0.97612 0.81366 0.615465 0.697013916798312 0 0.980460832264043 TRUE NA ENSE00001312622_014 ENSE00001312622 014 7 120382520 120382689 + 44 93 33 G A 120382656 2357 137 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTACTGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742601 120742602 120742602 exon -1 1 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACAGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 2953 497 0.00843161567715148 0 0.00421580783857574 NA NA 0.99017942061465 0.900924150819841 NA NA -0.981747804937498 -0.900924150819841 NA 0.945551785717245 NA -0.94133597787867 NA TRUE NA 1 4.209 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW KCND2 HGNC 6238 ENST00000473190 1/3 1 NA CGG G,A 1.647e-05 7:120742602 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 splice_region_variant 2.002049 0.98265 0.95932 0.615465 0.935692212722682 0 0.980460832264043 TRUE 8.15741e-06 ENSE00001312622_015 ENSE00001312622 015 7 120382520 120382689 + 44 93 33 G A 120382657 2358 138 GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTATCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742602 120742603 120742603 downstr_intron 1 1.03125 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGATAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 188 853 0.171919805370945 0.124606052026458 0.148262928698701 NA NA 0.99017942061465 0.900924150819841 NA NA -0.818259615243705 -0.776318098793383 NA 0.945551785717245 NA -0.797288857018544 NA TRUE NA 1 9.083 . splice_donor_variant&non_coding_transcript_variant HIGH KCND2 HGNC 6238 ENST00000473190 1/2 COSM1686548 1 NA GGT G,A 8.237e-06 7:120742603 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 splice_donor_variant 5.775234 0.99446 0.99671 0.162113 0.995531431075195 0.986689 0.980460832264043 TRUE 4.07824e-06 ENSE00001312622_017 ENSE00001312622 017 7 120382520 120382689 + 44 93 33 T A 120382671 2360 152 GAGCAAGGGAAGGCAGTCTTGCTGTCTCCTTACCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGACTGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 120742616 120742617 120742617 downstr_intron 15 1.46875 TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCAAGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC mutant NA NA NA NA NA 351 59 0.994718896150116 1 0.997359448075058 NA NA 0.99017942061465 0.900924150819841 NA NA 0.00453947553546619 0.0990758491801588 NA 0.945551785717245 NA 0.0518076623578125 NA FALSE NA 0 -1.365 . intron_variant&non_coding_transcript_variant MODIFIER KCND2 HGNC 6238 ENST00000473190 1/2 rs375529577 1 NA A:0 A:0.0001 ATG T,A 8.237e-06 7:120742617 KCND2 HGNC Symbol protein_coding 476663 ENSG00000184408 ENSE00001312622 intron_variant 0.511723 0.20506 0.08452 0.077194 0.780139607611291 0.11417 0.980460832264043 TRUE 4.0832e-06 ENSE00001312622_BRK ENSE00001312622 BRK 7 120382520 120382689 + 44 93 33 A,G; T,T NA NA NA GAGCAAGGGAAGGCAGTCATGCTGTCTCCTTGGCGTGGTTTTTTCCAGGCAGTGAAGCAGGTGGTGGTGCTGGGTTTCAAAGCTGGAGCCGGATTTGCTAACAAAAGCCTGCTCATCCTCTGAGGAAAGTTAACAAAGAGAAGACAGAAGAGCTTTCTATTTTATTTGCA 120742465 120742635 NA NA NA NA NA NA TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACTTTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGCCAAGGAGACAGCATGACTGCCTTCCCTTGCTC TGCAAATAAAATAGAAAGCTCTTCTGTCTTCTCTTTGTTAACAGTCCTCAGAGGATGAGCAGGCTTTTGTTAGCAAATCCGGCTCCAGCTTTGAAACCCAGCACCACCACCTGCTTCACTGCCTGGAAAAAACCACGGTAAGGAGACAGCATGACTGCCTTCCCTTGCTC control 188 48 0 0 0 NA NA NA NA NA NA NA 0.99017942061465 0.900924150819841 NA NA NA NA NA 0.945551785717245 NA NA NA NA NA NA NA NA NA NA KCND2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCND2 NA NA NA ENSG00000184408 ENSE00001312622 NA NA NA NA NA NA NA 0.980460832264043 TRUE NA ENSE00001312752_000 ENSE00001312752 000 12 56334367 56334536 + 41 99 30 NA NA NA NA NA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA 55940582 55940752 NA NA NA NA NA NA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA natural 61 72 0.955699961894876 0.892795278754666 0.924247620324771 563 800 0.858601103252754 0.99874719552691 0.928674149389832 0.955699961894876 0.892795278754666 0.858601103252754 0.99874719552691 0 0 0 0 0.924247620324771 0.928674149389832 0 0 0 FALSE FALSE NA NA NA NA NA DGKA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKA NA NA NA ENSG00000065357 ENSE00003641213 NA NA NA NA NA NA NA 0.999250949298834 TRUE NA ENSE00001312752_008 ENSE00001312752 008 12 56334367 56334536 + 41 99 30 C T 56334438 1943 72 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCTATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA 55940582 55940752 55940653 55940654 55940654 exon 31 0.313131313131313 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCTATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA mutant 62 99 0.85 0.85 0.85 NA NA NA NA NA 0.955699961894876 0.892795278754666 0.858601103252754 0.99874719552691 -0.105699961894877 -0.0427952787546663 NA NA 0.924247620324771 0.928674149389832 -0.0742476203247714 NA NA NA FALSE 0.051 0.346 . downstream_gene_variant MODIFIER DGKA HGNC 2849 ENST00000557080 1 NA CCA C,T 1.647e-05 12:55940654 DGKA HGNC Symbol protein_coding 26708 ENSG00000065357 ENSE00003641213 missense_variant 3.258609 0.38004 0.23123 0.645754 0.989383054472825 0 0.999250949298834 TRUE 8.63543e-06 ENSE00001312752_009 ENSE00001312752 009 12 56334367 56334536 + 41 99 30 A G 56334439 1944 73 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCGTGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA 55940582 55940752 55940654 55940655 55940655 exon 32 0.323232323232323 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCGTGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA mutant NA NA NA NA NA 132 47 1 1 1 0.955699961894876 0.892795278754666 0.858601103252754 0.99874719552691 NA NA 0.141398896747246 0.0012528044730904 0.924247620324771 0.928674149389832 NA 0.0713258506101684 NA FALSE NA 0 0.196 . downstream_gene_variant MODIFIER DGKA HGNC 2849 ENST00000557080 1 NA CAT A,G 8.236e-06 12:55940655 DGKA HGNC Symbol protein_coding 26708 ENSG00000065357 ENSE00003641213 missense_variant 0.840027 0.11665 0.12468 0.645754 0.889647168538305 0 0.999250949298834 TRUE 8.61237e-06 ENSE00001312752_017 ENSE00001312752 017 12 56334367 56334536 + 41 99 30 T G 56334500 1952 134 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGGGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA 55940582 55940752 55940715 55940716 55940716 exon -7 0.939393939393939 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGGGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA mutant 12 47 0 0 0 NA NA NA NA NA 0.955699961894876 0.892795278754666 0.858601103252754 0.99874719552691 -0.955699961894876 -0.892795278754666 NA NA 0.924247620324771 0.928674149389832 -0.924247620324771 NA NA NA TRUE 0 -1.682 . downstream_gene_variant MODIFIER DGKA HGNC 2849 ENST00000557080 1 NA GTG T,G 8.236e-06 12:55940716 DGKA HGNC Symbol protein_coding 26708 ENSG00000065357 ENSE00003641213 missense_variant 1.438974 0.43048 0.11458 0.645754 0.964888747282398 0 0.999250949298834 TRUE 8.23398e-06 ENSE00001312752_018 ENSE00001312752 018 12 56334367 56334536 + 41 99 30 G C 56334501 1953 135 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTCTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA 55940582 55940752 55940716 55940717 55940717 exon -6 0.94949494949495 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTCTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA mutant 26 22 0.85 0.85 0.85 NA NA NA NA NA 0.955699961894876 0.892795278754666 0.858601103252754 0.99874719552691 -0.105699961894877 -0.0427952787546663 NA NA 0.924247620324771 0.928674149389832 -0.0742476203247714 NA NA NA FALSE 0.994 2.38 . downstream_gene_variant MODIFIER DGKA HGNC 2849 ENST00000557080 1 NA TGT G,C 8.236e-06 12:55940717 DGKA HGNC Symbol protein_coding 26708 ENSG00000065357 ENSE00003641213 missense_variant 2.897737 0.75404 0.83115 0.645754 0.984436759690258 0 0.999250949298834 TRUE 4.08857e-06 ENSE00001312752_021 ENSE00001312752 021 12 56334367 56334536 + 41 99 30 G A 56334518 1956 152 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCAGCAGCAGCGGGGAGGGGA 55940582 55940752 55940733 55940734 55940734 downstr_intron 12 1.41379310344828 GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCAGCAGCAGCGGGGAGGGGA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA mutant NA NA NA NA NA 266 23 0.893508684621047 1 0.946754342310524 0.955699961894876 0.892795278754666 0.858601103252754 0.99874719552691 NA NA 0.0349075813682934 0.0012528044730904 0.924247620324771 0.928674149389832 NA 0.0180801929206919 NA FALSE NA 0 -0.325 NA NA NA DGKA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:55940734 DGKA HGNC Symbol protein_coding 26708 ENSG00000065357 ENSE00003641213 non_coding_transcript_exon_variant 0.213 0.20751 0.12273 0.0869 0.612934334741402 0.16765 0.999250949298834 TRUE 1.22838e-05 ENSE00001312752_BRK ENSE00001312752 BRK 12 56334367 56334536 + 41 99 30 A,G; T,T NA NA NA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCTTATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGCCGAGACCCTCGGCAGCAGCGGGGAGGGGA 55940582 55940752 NA NA NA NA NA NA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCTTATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGCCGAGACCCTCGGCAGCAGCGGGGAGGGGA GGTTACCTTCGTGATCTCTCTGTGCCCACCTCGTCTTTCAGATCCACGATGACTGCCTGCAAGCGGTGGGCCATGAGTGTGACTGTGGGCTGCTCCGGGATCACATCCTGCCTCCATCTTCCATCTATCCCAGTGTCCTGGTGAGACCCTCGGCAGCAGCGGGGAGGGGA control 143 36 0 0 0 NA NA NA NA NA 0.955699961894876 0.892795278754666 0.858601103252754 0.99874719552691 -0.955699961894876 -0.892795278754666 NA NA 0.924247620324771 0.928674149389832 -0.924247620324771 NA NA NA TRUE NA NA NA NA NA DGKA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKA NA NA NA ENSG00000065357 ENSE00003641213 NA NA NA NA NA NA NA 0.999250949298834 TRUE NA ENSE00001312811_000 ENSE00001312811 000 4 7668806 7668975 + 45 90 35 NA NA NA NA NA GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 NA NA NA NA NA NA AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC natural 15 31 0.988753462162093 1 0.994376731081047 1633 2255 0.99152012293835 0.869484925999699 0.930502524469025 0.988753462162093 1 0.99152012293835 0.869484925999699 0 0 0 0 0.994376731081047 0.930502524469025 0 0 0 FALSE FALSE NA NA NA NA NA SORCS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SORCS2 NA NA NA ENSG00000184985 ENSE00001312811 NA NA NA NA NA NA NA 0.00264628823985857 FALSE NA ENSE00001312811_005 ENSE00001312811 005 4 7668806 7668975 + 45 90 35 A T 7668828 417 23 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATATTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667100 7667101 7667101 upstr_intron -23 -0.488888888888889 AGAGGGAATCAAGCCTCTCAAATATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 583 109 0.996706943883724 1 0.998353471941862 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00518682094537337 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0678509474728373 NA FALSE NA 0 -0.512 . intron_variant MODIFIER SORCS2 HGNC 16698 ENST00000329016 7/26 rs374884988 1 NA T:0 T:0.0001 AAA A,T 8.273e-06 4:7667101 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 intron_variant -0.132678 0.18148 0.0286 0.053691 0.441263231548687 0.0698953 0.00264628823985857 FALSE 4.0702e-06 ENSE00001312811_008 ENSE00001312811 008 4 7668806 7668975 + 45 90 35 C T 7668844 420 39 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCAGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667116 7667117 7667117 upstr_intron -7 -0.133333333333333 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCTGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 45 19 1 1 1 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0694974755309754 NA FALSE NA 0 0.076 . splice_region_variant&intron_variant LOW SORCS2 HGNC 16698 ENST00000329016 7/26 1 NA CCG C,T 3.31e-05 4:7667117 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 splice_region_variant 0.120574 0.22161 0.02024 0.053691 0.372884495529957 0.0699399 0.00264628823985857 FALSE 1.62684e-05 ENSE00001312811_010 ENSE00001312811 010 4 7668806 7668975 + 45 90 35 A G 7668853 422 48 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTCGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667125 7667126 7667126 exon 3 0.0333333333333333 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCGACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 275 138 0.999442298556101 0.98576215229186 0.992602225423981 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00792217561775033 0.116277226292162 0.994376731081047 0.930502524469025 NA 0.062099700954956 NA FALSE NA 0.713 -0.028 . splice_region_variant&synonymous_variant LOW SORCS2 HGNC 16698 ENST00000329016 8/27 1 NA CAA A,G 8.272e-06 4:7667126 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 splice_region_variant 0.297783 0.96271 0.60692 0.553676 0.501110476154 0 0.00264628823985857 FALSE 4.06256e-06 ENSE00001312811_012 ENSE00001312811 012 4 7668806 7668975 + 45 90 35 C T 7668858 424 53 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTAATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667130 7667131 7667131 exon 8 0.0888888888888889 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATTAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 226 24 0.999817763300751 1 0.999908881650376 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00829764036240099 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0694063571813511 NA FALSE NA 0.141 3.486 . missense_variant MODERATE SORCS2 HGNC 16698 ENST00000329016 8/27 1 benign(0.184) NA TCA C,T 1.654e-05 4:7667131 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 missense_variant 1.698984 0.55845 0.25819 0.553676 0.987078435438938 0 0.00264628823985857 FALSE 4.06194e-06 ENSE00001312811_015 ENSE00001312811 015 4 7668806 7668975 + 45 90 35 C A 7668883 427 78 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGATACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667155 7667156 7667156 exon 33 0.366666666666667 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTATCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 967 52 0.954096378584935 1 0.977048189292468 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA -0.0374237443534151 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0465456648234431 NA FALSE NA 0.5 -0.14 . synonymous_variant LOW SORCS2 HGNC 16698 ENST00000329016 8/27 COSM1057567 1 NA TCT C,A 2.481e-05 4:7667156 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 synonymous_variant 0.968704 0.96122 0.54162 0.553676 0.47899422145338 0 0.00264628823985857 FALSE 1.21833e-05 ENSE00001312811_016 ENSE00001312811 016 4 7668806 7668975 + 45 90 35 A G 7668888 428 83 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGACAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667160 7667161 7667161 exon 38 0.422222222222222 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTGTCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 783 54 1 1 1 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0694974755309754 NA FALSE NA 0.999 3.597 . missense_variant MODERATE SORCS2 HGNC 16698 ENST00000329016 8/27 1 benign(0.157) NA TAT A,G 8.27e-06 4:7667161 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 missense_variant 1.836393 0.97043 0.85962 0.553676 0.895254305050524 0 0.00264628823985857 FALSE 4.06121e-06 ENSE00001312811_017 ENSE00001312811 017 4 7668806 7668975 + 45 90 35 T C 7668889 429 84 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGGTAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667161 7667162 7667162 exon 39 0.433333333333333 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTACCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 32 87 1 1 1 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0694974755309754 NA FALSE NA 0.533 -0.47 . synonymous_variant LOW SORCS2 HGNC 16698 ENST00000329016 8/27 rs533340804 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATC T,C 8.27e-06 4:7667162 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 synonymous_variant -1.634157 0.67861 0.05947 0.553676 0.221876322928814 0 0.00264628823985857 FALSE 8.12236e-06 ENSE00001312811_018 ENSE00001312811 018 4 7668806 7668975 + 45 90 35 C T 7668890 430 85 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACAATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667162 7667163 7667163 exon 40 0.444444444444444 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATTGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 944 40 0.998021558529134 1 0.999010779264567 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00650143559078398 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0685082547955426 NA FALSE NA 0.976 3.539 . missense_variant MODERATE SORCS2 HGNC 16698 ENST00000329016 8/27 rs376586230 1 probably_damaging(0.97) NA T:0.0003 T:0.0001 TCG C,T 4.135e-05 4:7667163 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 missense_variant 5.866024 0.98118 0.92176 0.553676 0.998690609001589 0 0.00264628823985857 FALSE 2.43679e-05 ENSE00001312811_019 ENSE00001312811 019 4 7668806 7668975 + 45 90 35 G A 7668891 431 86 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGATGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667163 7667164 7667164 exon 41 0.455555555555556 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCATCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 95 838 1 0.998162502789184 0.999081251394592 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 0.128677576789485 0.994376731081047 0.930502524469025 NA 0.0685787269255672 NA FALSE NA 0.981 3.196 . missense_variant MODERATE SORCS2 HGNC 16698 ENST00000329016 8/27 rs543290121 1 probably_damaging(0.97) NA CGT G,A 8.27e-06 4:7667164 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 missense_variant 5.381559 0.98163 0.89578 0.553676 0.99890826859009 0 0.00264628823985857 FALSE 4.06134e-06 ENSE00001312811_022 ENSE00001312811 022 4 7668806 7668975 + 45 90 35 G A 7668922 434 117 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTTGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667194 7667195 7667195 exon -19 0.8 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCAAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 38 36 1 0.806974345444394 0.903487172722197 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 -0.062510580555305 0.994376731081047 0.930502524469025 NA -0.0270153517468277 NA FALSE NA 0.256 -0.849 NA NA NA SORCS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:7667195 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 synonymous_variant 1.441049 0.853 0.04603 0.554377 0.793548118394452 0 0.00264628823985857 FALSE 0.000215246 ENSE00001312811_024 ENSE00001312811 024 4 7668806 7668975 + 45 90 35 T C 7668926 436 121 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATGCTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667198 7667199 7667199 exon -15 0.844444444444444 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGCATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 1150 119 0.865772572413014 1 0.932886286206507 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA -0.125747550525336 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.00238376173748245 NA FALSE NA 1 4.774 rs146060545 missense_variant MODERATE SORCS2 HGNC 16698 ENST00000329016 8/27 rs146060545 1 benign(0.12) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GTA T,C 5.785e-05 4:7667199 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 missense_variant 2.510737 0.97897 0.94473 0.554377 0.992321826304919 0 0.00264628823985857 FALSE 4.46737e-05 ENSE00001312811_025 ENSE00001312811 025 4 7668806 7668975 + 45 90 35 A G 7668939 437 134 GGCCACAGGACCAGGCGGAATGGGGAGCACCTTACCCTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667211 7667212 7667212 exon -2 0.988888888888889 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAGGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 59 56 1 1 1 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0694974755309754 NA FALSE NA 1 7.439 . missense_variant&splice_region_variant MODERATE SORCS2 HGNC 16698 ENST00000329016 8/27 rs368388764 1 benign(0.077) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAG A,G 1.653e-05 4:7667212 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 missense_variant 2.367868 0.98235 0.97634 0.487112 0.998677628095066 0 0.00264628823985857 FALSE NA ENSE00001312811_027 ENSE00001312811 027 4 7668806 7668975 + 45 90 35 G C 7668946 439 141 GGCCACAGGACCAGGCGGAATGGGGAGCAGCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667218 7667219 7667219 downstr_intron 6 1.17647058823529 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGCTGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 731 131 0.997828906912949 1 0.998914453456474 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00630878397459833 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0684119289874498 NA FALSE NA 0.001 -1.356 . splice_region_variant&intron_variant LOW SORCS2 HGNC 16698 ENST00000329016 8/26 rs376507107 1 NA C:0 C:0.0001 GGT G,C 8.263e-06 4:7667219 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 splice_region_variant 0.1296 0.17502 0.01558 0.053691 0.764283473258094 0.046323 0.00264628823985857 FALSE 4.06157e-06 ENSE00001312811_028 ENSE00001312811 028 4 7668806 7668975 + 45 90 35 T C 7668947 440 142 GGCCACAGGACCAGGCGGAATGGGGAGCGCCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667219 7667220 7667220 downstr_intron 7 1.20588235294118 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGCGCTCCCCATTCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 38 364 1 1 1 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0694974755309754 NA FALSE NA 0 0.438 NA NA NA SORCS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:7667220 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 splice_region_variant -0.321553 0.22224 0.02589 0.053691 0.603028258159269 0.046323 0.00264628823985857 FALSE 1.21852e-05 ENSE00001312811_031 ENSE00001312811 031 4 7668806 7668975 + 45 90 35 T C 7668957 443 152 GGCCACAGGACCAGGCGGGATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667229 7667230 7667230 downstr_intron 17 1.5 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATCCCGCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 230 54 1 1 1 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0694974755309754 NA FALSE NA 0 -0.376 . intron_variant MODIFIER SORCS2 HGNC 16698 ENST00000329016 8/26 rs568058317 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTC T,C 8.262e-06 4:7667230 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 intron_variant -0.418957 0.12668 0.00672 0.053691 0.317546936692061 0.046323 0.00264628823985857 FALSE 4.06339e-06 ENSE00001312811_034 ENSE00001312811 034 4 7668806 7668975 + 45 90 35 G T 7668960 446 155 GGCCACAGGACCAGGAGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667232 7667233 7667233 downstr_intron 20 1.58823529411765 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCTCCTGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 82 51 1 1 1 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.00847987706164954 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0694974755309754 NA FALSE NA 0 -1.183 NA NA NA SORCS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:7667233 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 intron_variant -0.689946 0.09778 0.01627 0.053691 0.425296069639369 0.0455939 0.00264628823985857 FALSE 8.12942e-06 ENSE00001312811_035 ENSE00001312811 035 4 7668806 7668975 + 45 90 35 T C 7668963 447 158 GGCCACAGGACCGGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667235 7667236 7667236 downstr_intron 23 1.67647058823529 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCCGGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 472 432 0.992669974636281 0.998387326135987 0.995528650386134 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA 0.0011498516979308 0.128902400136288 0.994376731081047 0.930502524469025 NA 0.0650261259171095 NA FALSE NA 0 -4.295 . intron_variant MODIFIER SORCS2 HGNC 16698 ENST00000329016 8/26 1 NA CTG T,C 1.652e-05 4:7667236 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 intron_variant -0.149125 0.08105 0.00447 0.053691 0.330715137581335 0.0455939 0.00264628823985857 FALSE 2.84578e-05 ENSE00001312811_036 ENSE00001312811 036 4 7668806 7668975 + 45 90 35 G C 7668964 448 159 GGCCACAGGACGAGGCGGAATGGGGAGCACCTTACCTTTGGCAATGCATACTTCGGCAGCTTCATCAGGACAAATTCATTTCGACGATAAGAGACGTAGTATTTTGTCTGGTTTGCTGATGTTGCCTAACCGGGGGAAGAAACACATTTTTGAGAGGCTTGATTCCCTCT 7667078 7667248 7667236 7667237 7667237 downstr_intron 24 1.70588235294118 AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTCGTCCTGTGGCC AGAGGGAATCAAGCCTCTCAAAAATGTGTTTCTTCCCCCGGTTAGGCAACATCAGCAAACCAGACAAAATACTACGTCTCTTATCGTCGAAATGAATTTGTCCTGATGAAGCTGCCGAAGTATGCATTGCCAAAGGTAAGGTGCTCCCCATTCCGCCTGGTCCTGTGGCC mutant NA NA NA NA NA 33 11 0.904197871920655 1 0.952098935960328 0.988753462162093 1 0.99152012293835 0.869484925999699 NA NA -0.0873222510176951 0.130515074000301 0.994376731081047 0.930502524469025 NA 0.0215964114913031 NA FALSE NA 0 -2.298 . intron_variant MODIFIER SORCS2 HGNC 16698 ENST00000329016 8/26 rs373245343 1 NA C:0 C:0.0001 TGG G,C 1.652e-05 4:7667237 SORCS2 HGNC Symbol protein_coding 550298 ENSG00000184985 ENSE00001312811 intron_variant -0.456808 0.09025 0.00918 0.053691 0.496061821294735 0.0455939 0.00264628823985857 FALSE 1.21954e-05 ENSE00001312819_000 ENSE00001312819 000 12 6062632 6062801 - 30 99 41 NA NA NA NA NA GAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCT 5953465 5953635 NA NA NA NA NA NA AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC natural 71 97 0.990731895395297 0.958269520265079 0.974500707830188 1334 840 0.875102043983101 0.993072598667243 0.934087321325172 0.990731895395297 0.958269520265079 0.875102043983101 0.993072598667243 0 0 0 0 0.974500707830188 0.934087321325172 0 0 0 FALSE FALSE NA NA NA NA NA VWF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VWF NA NA NA ENSG00000110799 ENSE00001312819 NA NA NA NA NA NA NA 1.52411378256046e-11 FALSE NA ENSE00001312819_007 ENSE00001312819 007 12 6062632 6062801 - 30 99 41 T C 6062709 296 93 GAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGCAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCT 5953465 5953635 5953542 5953543 5953543 exon -48 0.525252525252525 AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTGCGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC mutant NA NA NA NA NA 602 39 0.998208930273313 1 0.999104465136656 0.990731895395297 0.958269520265079 0.875102043983101 0.993072598667243 NA NA 0.123106886290212 0.0069274013327566 0.974500707830188 0.934087321325172 NA 0.0650171438114843 NA FALSE NA 0.001 0.382 . missense_variant MODERATE VWF HGNC 12726 ENST00000261405 48/52 1 deleterious(0.01) possibly_damaging(0.636) NA GTA T 1.647e-05 12:5953543 VWF HGNC Symbol protein_coding 175896 ENSG00000110799 ENSE00001312819 missense_variant 1.099791 0.17114 0.03203 0.67177 0.862761305304232 0 1.52411378256046e-11 FALSE 1.62456e-05 ENSE00001312819_011 ENSE00001312819 011 12 6062632 6062801 - 30 99 41 T C 6062731 300 71 GAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACACTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCT 5953465 5953635 5953564 5953565 5953565 exon 30 0.303030303030303 AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAGTGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC mutant 244 117 0 0 0 NA NA NA NA NA 0.990731895395297 0.958269520265079 0.875102043983101 0.993072598667243 -0.990731895395297 -0.958269520265079 NA NA 0.974500707830188 0.934087321325172 -0.974500707830188 NA NA NA TRUE 0.681 -0.477 . synonymous_variant LOW VWF HGNC 12726 ENST00000261405 48/52 1 NA ATT T 8.236e-06 12:5953565 VWF HGNC Symbol protein_coding 175896 ENSG00000110799 ENSE00001312819 synonymous_variant -0.391591 0.94315 0.48404 0.67177 0.513757514182924 0 1.52411378256046e-11 FALSE 4.06151e-06 ENSE00001312819_018 ENSE00001312819 018 12 6062632 6062801 - 30 99 41 C T 6062767 307 35 GAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATTCAGAGGGGGAAAAAGCAGCCATAGTTAACCTCCT 5953465 5953635 5953600 5953601 5953601 upstr_intron -7 -0.146341463414634 AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGAATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC mutant NA NA NA NA NA 219 221 0.999434887147637 0.999827611642626 0.999631249395132 0.990731895395297 0.958269520265079 0.875102043983101 0.993072598667243 NA NA 0.124332843164537 0.00675501297538228 0.974500707830188 0.934087321325172 NA 0.0655439280699595 NA FALSE NA 0.09 0.114 . splice_region_variant&intron_variant LOW VWF HGNC 12726 ENST00000261405 47/51 1 NA TCC C 8.236e-06 12:5953601 VWF HGNC Symbol protein_coding 175896 ENSG00000110799 ENSE00001312819 splice_region_variant 0.021273 0.18234 0.01966 0.069865 0.201173398711502 0.125593 1.52411378256046e-11 FALSE 4.06385e-06 ENSE00001312819_020 ENSE00001312819 020 12 6062632 6062801 - 30 99 41 A G 6062777 309 25 GAGGGAGCCCTGCATTCAGCTTGCTCCTACCTTCAGTGTCATGATCTGTCCTCCTCTTAGCTGAATGGTGCAAGCCGTAGGCAAACATCTCCCACAACATTCACCTGTGTTATTTTCTTCCTTGTAACCCTGCATCCAGAGGGGGGAAAAGCAGCCATAGTTAACCTCCT 5953465 5953635 5953610 5953611 5953611 upstr_intron -17 -0.390243902439024 AGGAGGTTAACTATGGCTGCTTTTCCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC AGGAGGTTAACTATGGCTGCTTTTTCCCCCTCTGGATGCAGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGGTAGGAGCAAGCTGAATGCAGGGCTCCCTC mutant NA NA NA NA NA 11 60 0.988207331131622 1 0.994103665565811 0.990731895395297 0.958269520265079 0.875102043983101 0.993072598667243 NA NA 0.113105287148521 0.0069274013327566 0.974500707830188 0.934087321325172 NA 0.0600163442406387 NA FALSE NA 0 -0.43 rs12297370 intron_variant MODIFIER VWF HGNC 12726 ENST00000261405 47/51 rs12297370 1 G:0.0200 G:0.0719 G:0.0072 NA G:0 G:0 G:0 G:0.044 G:0.0002 GAA A 0.005716 12:5953611 VWF HGNC Symbol protein_coding 175896 ENSG00000110799 ENSE00001312819 non_coding_transcript_exon_variant -0.312082 0.1758 0.02157 0.069865 0.449516422482064 0.074238 1.52411378256046e-11 FALSE 0.00430344 ENSE00001312834_000 ENSE00001312834 000 16 8858551 8858720 + 44 93 33 NA NA NA NA NA TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCATTGGAGCAGGAGCCGCAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACCTGTGGGGAGGGAAATAGCCGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 NA NA NA NA NA NA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA natural NA NA NA NA NA 203 936 0.813845797206683 0.702501944330878 0.758173870768781 NA NA 0.813845797206683 0.702501944330878 NA NA 0 0 NA 0.758173870768781 NA 0 NA FALSE NA NA NA NA NA NA ABAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABAT NA NA NA ENSG00000183044 ENSE00003658474 NA NA NA NA NA NA NA 0.374368506048295 FALSE NA ENSE00001312834_004 ENSE00001312834 004 16 8858551 8858720 + 44 93 33 C T 8858574 702 24 TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCATTGGAGCAGGAGCCGCAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACCTGTGGGGAGGGAAATAGCCATGAGCCCAGGCTCATCATGACTC 8764693 8764863 8764716 8764717 8764717 upstr_intron -21 -0.454545454545455 GAGTCATGATGAGCCTGGGCTCATGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA mutant NA NA NA NA NA 144 10 1 1 1 NA NA 0.813845797206683 0.702501944330878 NA NA 0.186154202793317 0.297498055669122 NA 0.758173870768781 NA 0.241826129231219 NA FALSE NA 0.026 0.023 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA ACG C,T 3.295e-05 16:8764717 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003658474 intron_variant 0.085201 0.25516 0.07781 0.119485 0.655708093723028 0.0676497 0.374368506048295 FALSE 3.25198e-05 ENSE00001312834_005 ENSE00001312834 005 16 8858551 8858720 + 44 93 33 G A 8858575 703 25 TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCATTGGAGCAGGAGCCGCAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACCTGTGGGGAGGGAAATAGCTGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 8764717 8764718 8764718 upstr_intron -20 -0.431818181818182 GAGTCATGATGAGCCTGGGCTCACAGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA mutant NA NA NA NA NA 79 32 1 1 1 NA NA 0.813845797206683 0.702501944330878 NA NA 0.186154202793317 0.297498055669122 NA 0.758173870768781 NA 0.241826129231219 NA FALSE NA 0 -0.44 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs200644195 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0016 A:0 CGG G,A 0.0002059 16:8764718 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003658474 intron_variant -0.309975 0.22519 0.01918 0.119485 0.389096650925939 0.0676497 0.374368506048295 FALSE 0.000158512 ENSE00001312834_011 ENSE00001312834 011 16 8858551 8858720 + 44 93 33 C G 8858590 709 40 TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCATTGGAGCAGGAGCCGCAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACCTGTCGGGAGGGAAATAGCCGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 8764732 8764733 8764733 upstr_intron -5 -0.0909090909090909 GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCGACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA mutant NA NA NA NA NA 27 236 1 0.99737741710901 0.998688708554505 NA NA 0.813845797206683 0.702501944330878 NA NA 0.186154202793317 0.294875472778131 NA 0.758173870768781 NA 0.240514837785724 NA FALSE NA 0 -1.409 NA NA NA ABAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:8764733 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003658474 splice_region_variant -0.216348 0.18892 0.04942 0.119485 0.414656741494574 0.19539 0.374368506048295 FALSE 4.0623e-06 ENSE00001312834_012 ENSE00001312834 012 16 8858551 8858720 + 44 93 33 G T 8858608 710 58 TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCATTGGAGCAGGAGCCGCAGGCCATGGTGATGAGCTGGGACATCACTTTGGGAGCCACCTGTGGGGAGGGAAATAGCCGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 8764750 8764751 8764751 exon 14 0.150537634408602 GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGTGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA mutant NA NA NA NA NA 86 136 1 1 1 NA NA 0.813845797206683 0.702501944330878 NA NA 0.186154202793317 0.297498055669122 NA 0.758173870768781 NA 0.241826129231219 NA FALSE NA 1 9.448 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA GGG G,T 8.236e-06 16:8764751 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003658474 missense_variant 6.756201 0.97414 0.97392 0.553676 0.998133752681969 0 0.374368506048295 FALSE 4.06114e-06 ENSE00001312834_017 ENSE00001312834 017 16 8858551 8858720 + 44 93 33 C T 8858636 715 86 TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCATTGGAGCAGGAGCCACAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACCTGTGGGGAGGGAAATAGCCGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 8764778 8764779 8764779 exon 42 0.451612903225806 GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGTGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA mutant NA NA NA NA NA 12 94 1 1 1 NA NA 0.813845797206683 0.702501944330878 NA NA 0.186154202793317 0.297498055669122 NA 0.758173870768781 NA 0.241826129231219 NA FALSE NA 0.649 -0.245 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs200627621 1 NA T:0 T:0.0003 GCG C,T 0.0002224 16:8764779 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003658474 synonymous_variant 2.224794 0.88646 0.2009 0.553676 0.539006736658647 0 0.374368506048295 FALSE 0.000235537 ENSE00001312834_018 ENSE00001312834 018 16 8858551 8858720 + 44 93 33 C A 8858639 716 89 TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCATTGGAGCAGGATCCGCAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACCTGTGGGGAGGGAAATAGCCGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 8764781 8764782 8764782 exon 45 0.483870967741935 GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGATCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA mutant NA NA NA NA NA 49 93 1 1 1 NA NA 0.813845797206683 0.702501944330878 NA NA 0.186154202793317 0.297498055669122 NA 0.758173870768781 NA 0.241826129231219 NA FALSE NA 0.449 -0.31 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA GCT C,A 8.236e-06 16:8764782 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003658474 synonymous_variant 2.168793 0.87778 0.31032 0.553676 0.612353338441208 0 0.374368506048295 FALSE 4.06088e-06 ENSE00001312834_022 ENSE00001312834 022 16 8858551 8858720 + 44 93 33 A G 8858650 720 100 TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCACTGGAGCAGGAGCCGCAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACCTGTGGGGAGGGAAATAGCCGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 8764792 8764793 8764793 exon -38 0.602150537634409 GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAGTGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA mutant NA NA NA NA NA 67 116 0.875281314459885 1 0.937640657229943 NA NA 0.813845797206683 0.702501944330878 NA NA 0.061435517253202 0.297498055669122 NA 0.758173870768781 NA 0.179466786461162 NA FALSE NA 1 8.943 . downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 1 NA AAT A,G 8.236e-06 16:8764793 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003658474 missense_variant 5.758003 0.96721 0.97037 0.553676 0.999025522033082 0 0.374368506048295 FALSE 4.06078e-06 ENSE00001312834_023 ENSE00001312834 023 16 8858551 8858720 + 44 93 33 C T 8858657 721 107 TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCACCCGGTACCACATGAAGATGGTCTTTAAGGCATTTTCATTGGAGCAGGAGCCGCAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACCTGTGGGGAGGGAAATAGCCGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 8764799 8764800 8764800 exon -31 0.67741935483871 GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAATGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA mutant NA NA NA NA NA 12 28 1 1 1 NA NA 0.813845797206683 0.702501944330878 NA NA 0.186154202793317 0.297498055669122 NA 0.758173870768781 NA 0.241826129231219 NA FALSE NA 0.039 -0.932 rs141981377 downstream_gene_variant MODIFIER ABAT HGNC 23 ENST00000565671 rs141981377 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0005 T:0 ACG C,T 3.295e-05 16:8764800 ABAT HGNC Symbol protein_coding 110010 ENSG00000183044 ENSE00003658474 synonymous_variant 1.833626 0.87976 0.0485 0.553676 0.636117184883261 0 0.374368506048295 FALSE 5.27923e-05 ENSE00001312834_BRK ENSE00001312834 BRK 16 8858551 8858720 + 44 93 33 A,G; T,T NA NA NA TGTGTGTGTGTGTGTGTGTGCCCCAAACCTCGGCCGGTACCACATGAAGATGGTCTTTAAGGCGTTTTCATTGGAGCAGGAGCCGCAGGCCATGGTGATGAGCTGGGACATCCCTTTGGGAGCCACAAGTGGGGAGGGAAATAGCCGTGAGCCCAGGCTCATCATGACTC 8764693 8764863 NA NA NA NA NA NA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACTTGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGCCGAGGTTTGGGGCACACACACACACACACACA GAGTCATGATGAGCCTGGGCTCACGGCTATTTCCCTCCCCACAGGTGGCTCCCAAAGGGATGTCCCAGCTCATCACCATGGCCTGCGGCTCCTGCTCCAATGAAAACGCCTTAAAGACCATCTTCATGTGGTACCGGGTGAGGTTTGGGGCACACACACACACACACACA control NA NA NA NA NA 614 107 0.00344236823328784 0.00474499472927096 0.0040936814812794 NA NA 0.813845797206683 0.702501944330878 NA NA -0.810403428973396 -0.697756949601607 NA 0.758173870768781 NA -0.754080189287502 NA TRUE NA NA NA NA NA NA ABAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABAT NA NA NA ENSG00000183044 ENSE00003658474 NA NA NA NA NA NA NA 0.374368506048295 FALSE NA ENSE00001313298_000 ENSE00001313298 000 15 65043719 65043888 - 41 78 51 NA NA NA NA NA TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 NA NA NA NA NA NA TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC natural 48 67 0.998869010784518 0.99793892453065 0.998403967657584 1333 1893 0.996746985730776 0.987212574302266 0.991979780016521 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 0 0 0 0 0.998403967657584 0.991979780016521 0 0 0 FALSE FALSE NA NA NA NA NA RBPMS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBPMS2 NA NA NA ENSG00000166831 ENSE00003533664 NA NA NA NA NA NA NA 0.323534851132986 FALSE NA ENSE00001313298_001 ENSE00001313298 001 15 65043719 65043888 - 41 78 51 C T 65043733 1357 156 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGAGTAGAGCCTGGGAC 64751519 64751689 64751533 64751534 64751534 downstr_intron 27 1.675 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGAGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 19 36 1 1 1 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA 0.0032530142692242 0.0127874256977338 0.998403967657584 0.991979780016521 NA 0.00802021998347902 NA FALSE NA 0 0.455 . intron_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 2/7 1 NA CCC C,T 8.236e-06 15:64751534 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 intron_variant 0.483586 0.27017 0.13113 0 0.782069802384934 0.205205 0.323534851132986 FALSE 1.22131e-05 ENSE00001313298_003 ENSE00001313298 003 15 65043719 65043888 - 41 78 51 G A 65043738 1359 151 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCTCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751538 64751539 64751539 downstr_intron 22 1.55 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCTCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 42 22 0.992932716708026 1 0.996466358354013 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA -0.00381426902274962 0.0127874256977338 0.998403967657584 0.991979780016521 NA 0.00448657833749211 NA FALSE NA 0.016 0.846 . intron_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 2/7 1 NA GGG G,A 8.236e-06 15:64751539 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 intron_variant 0.371494 0.26935 0.11581 0 0.820335708377153 0.145663 0.323534851132986 FALSE 4.06848e-06 ENSE00001313298_004 ENSE00001313298 004 15 65043719 65043888 - 41 78 51 G A 65043739 1360 150 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCTCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751539 64751540 64751540 downstr_intron 21 1.525 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCTCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 112 26 0.995505519912593 1 0.997752759956297 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA -0.00124146581818285 0.0127874256977338 0.998403967657584 0.991979780016521 NA 0.00577297993977549 NA FALSE NA 0.02 1.455 . intron_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 2/7 1 NA GGG G,A 8.236e-06 15:64751540 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 intron_variant 0.338693 0.27104 0.10976 0 0.82505235869033 0.145663 0.323534851132986 FALSE 4.06818e-06 ENSE00001313298_007 ENSE00001313298 007 15 65043719 65043888 - 41 78 51 G A 65043743 1363 146 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGTCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751543 64751544 64751544 downstr_intron 17 1.425 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGTCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 287 259 0.99561720702546 0.99924112631 0.99742916666773 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA -0.00112977870531628 0.0120285520077335 0.998403967657584 0.991979780016521 NA 0.00544938665120859 NA FALSE NA 0 -0.807 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64751544 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 intron_variant 0.312202 0.2647 0.07182 0 0.850864427992609 0.145663 0.323534851132986 FALSE 0.00534092 ENSE00001313298_008 ENSE00001313298 008 15 65043719 65043888 - 41 78 51 G T 65043743 1364 146 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGACGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751543 64751544 64751544 downstr_intron 17 1.425 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGACGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 100 124 0.991467407139823 0.995584192267889 0.993525799703856 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA -0.00527957859095329 0.0083716179656228 0.998403967657584 0.991979780016521 NA 0.00154601968733475 NA FALSE NA 0 -0.807 NA NA NA RBPMS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBPMS2 NA NA NA ENSG00000166831 ENSE00003533664 intron_variant 0.143637 0.24868 0.07026 0 0.805996250330234 0.145663 0.323534851132986 FALSE 0 ENSE00001313298_010 ENSE00001313298 010 15 65043719 65043888 - 41 78 51 T C 65043752 1366 137 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCGGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751552 64751553 64751553 downstr_intron 8 1.2 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCGGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 490 193 1 1 1 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA 0.0032530142692242 0.0127874256977338 0.998403967657584 0.991979780016521 NA 0.00802021998347902 NA FALSE NA 0 -0.173 . splice_region_variant&intron_variant LOW RBPMS2 HGNC 19098 ENST00000560606 2/7 1 NA CTG T,C 6.589e-05 15:64751553 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 splice_region_variant 1.282297 0.25163 0.03432 0 0.772048586202447 0.399501 0.323534851132986 FALSE 5.28288e-05 ENSE00001313298_013 ENSE00001313298 013 15 65043719 65043888 - 41 78 51 G A 65043763 1369 126 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTTAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751563 64751564 64751564 exon -4 0.961538461538462 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTTAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant 32 31 1 0.997270061621757 0.998635030810879 NA NA NA NA NA 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 0.00113098921548216 -0.000668862908893231 NA NA 0.998403967657584 0.991979780016521 0.000231063153294464 NA NA NA FALSE 1 4.302 . 5_prime_UTR_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 2/8 rs557288019 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGA G,A 8.236e-06 15:64751564 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 synonymous_variant 1.69206 0.93087 0.7828 0.741868 0.87478176721155 0 0.323534851132986 FALSE 4.06316e-06 ENSE00001313298_015 ENSE00001313298 015 15 65043719 65043888 - 41 78 51 C G 65043770 1371 119 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCCGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751570 64751571 64751571 exon -11 0.871794871794872 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCCGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 338 157 1 1 1 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA 0.0032530142692242 0.0127874256977338 0.998403967657584 0.991979780016521 NA 0.00802021998347902 NA FALSE NA 1 7.485 NA NA NA RBPMS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64751571 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 missense_variant 7.748656 0.97129 0.94982 0.741868 0.997898211074785 0 0.323534851132986 FALSE 4.06276e-06 ENSE00001313298_021 ENSE00001313298 021 15 65043719 65043888 - 41 78 51 A G 65043780 1377 109 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACCTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751580 64751581 64751581 exon -21 0.743589743589744 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACCTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 73 511 1 1 1 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA 0.0032530142692242 0.0127874256977338 0.998403967657584 0.991979780016521 NA 0.00802021998347902 NA FALSE NA 1 2.311 . 5_prime_UTR_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 2/8 1 NA AAG A,G 3.295e-05 15:64751581 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 synonymous_variant 0.79689 0.90383 0.20921 0.741868 0.783771928301637 0 0.323534851132986 FALSE 1.62487e-05 ENSE00001313298_024 ENSE00001313298 024 15 65043719 65043888 - 41 78 51 C T 65043805 1380 84 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTAGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751605 64751606 64751606 exon 33 0.423076923076923 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTAGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 672 169 0.971497549794235 0.93521417514372 0.953355862468978 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA -0.0252494359365404 -0.0519983991585463 0.998403967657584 0.991979780016521 NA -0.0386239175475434 NA FALSE NA 1 0.828 . 5_prime_UTR_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 2/8 rs375678145 1 NA T:0.0005 T:0 CCA C,T 1.647e-05 15:64751606 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 synonymous_variant 2.071837 0.9035 0.64811 0.741868 0.837650079273231 0 0.323534851132986 FALSE 8.12466e-06 ENSE00001313298_025 ENSE00001313298 025 15 65043719 65043888 - 41 78 51 G A 65043814 1381 75 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGTCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751614 64751615 64751615 exon 24 0.307692307692308 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGTCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 60 185 1 0.999794022430624 0.999897011215312 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA 0.0032530142692242 0.0125814481283575 0.998403967657584 0.991979780016521 NA 0.00791723119879084 NA FALSE NA 0.983 0.131 . 5_prime_UTR_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 2/8 rs368461699 1 NA A:0.0005 A:0 GGC G,A 1.647e-05 15:64751615 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 synonymous_variant 1.732024 0.90368 0.65861 0.741868 0.892308063253589 0 0.323534851132986 FALSE 8.12658e-06 ENSE00001313298_026 ENSE00001313298 026 15 65043719 65043888 - 41 78 51 G A 65043817 1382 72 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGTGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751617 64751618 64751618 exon 21 0.269230769230769 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGTGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant 57 108 0.85 0.85 0.85 NA NA NA NA NA 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 -0.148869010784518 -0.14793892453065 NA NA 0.998403967657584 0.991979780016521 -0.148403967657584 NA NA NA FALSE 0.999 0.931 . 5_prime_UTR_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 2/8 rs372396252 1 NA A:0 A:0.0001 CGC G,A 1.647e-05 15:64751618 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 synonymous_variant 1.917676 0.89442 0.34591 0.741868 0.890812917742825 0 0.323534851132986 FALSE 1.21912e-05 ENSE00001313298_029 ENSE00001313298 029 15 65043719 65043888 - 41 78 51 A T 65043842 1385 47 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCACCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751642 64751643 64751643 upstr_intron -5 -0.0784313725490196 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCACCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant NA NA NA NA NA 319 82 0.987922157916438 0.973472336379666 0.980697247148052 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 NA NA -0.00882482781433758 -0.0137402379225999 0.998403967657584 0.991979780016521 NA -0.0112825328684688 NA FALSE NA 0.832 0.934 . splice_region_variant&intron_variant LOW RBPMS2 HGNC 19098 ENST00000560606 1/7 rs371041657 1 NA T:0.0005 T:0 GAG A,T 8.236e-05 15:64751643 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 splice_region_variant 1.425692 0.31829 0.6019 0.114469 0.848011318316527 0.365134 0.323534851132986 FALSE 7.72477e-05 ENSE00001313298_030 ENSE00001313298 030 15 65043719 65043888 - 41 78 51 A C 65043846 1386 43 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCGGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 64751646 64751647 64751647 upstr_intron -9 -0.156862745098039 TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCGGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC mutant 366 400 0.85 0.85 0.85 NA NA NA NA NA 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 -0.148869010784518 -0.14793892453065 NA NA 0.998403967657584 0.991979780016521 -0.148403967657584 NA NA NA FALSE 0.997 4.306 . intron_variant MODIFIER RBPMS2 HGNC 19098 ENST00000560606 1/7 1 NA CAG A,C 8.236e-06 15:64751647 RBPMS2 HGNC Symbol protein_coding 35695 ENSG00000166831 ENSE00003533664 intron_variant 1.572414 0.54022 0.87559 0.114469 0.824966475703291 0.35511 0.323534851132986 FALSE 4.06732e-06 ENSE00001313298_BRK ENSE00001313298 BRK 15 65043719 65043888 - 41 78 51 A,G; T,T NA NA NA TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCTTGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGCCGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC 64751519 64751689 NA NA NA NA NA NA TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCTTGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGCCGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC TCCCTGTCCGTCTTGGGCAGCCTGGCCCTGATCACTGGTCTCTGTCTCCAGGTCCGGACACTGTTTGTCAGCGGCCTCCCTGTGGACATTAAACCCAGAGAACTCTACTTGCTCTTCCGGCCGTTCAAGGTGAGTCAGGACCCAGCCGCCCCCTGGGTAGAGCCTGGGAC control 13 66 0 0 0 NA NA NA NA NA 0.998869010784518 0.99793892453065 0.996746985730776 0.987212574302266 -0.998869010784518 -0.99793892453065 NA NA 0.998403967657584 0.991979780016521 -0.998403967657584 NA NA NA TRUE NA NA NA NA NA RBPMS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBPMS2 NA NA NA ENSG00000166831 ENSE00003533664 NA NA NA NA NA NA NA 0.323534851132986 FALSE NA ENSE00001313355_000 ENSE00001313355 000 11 16834607 16834776 - 53 54 63 NA NA NA NA NA CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 NA NA NA NA NA NA CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG natural 44 59 0.975087867013111 0.92615885279625 0.950623359904681 2748 2786 0.988437869464725 0.986873956745755 0.98765591310524 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 0 0 0 0 0.950623359904681 0.98765591310524 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHA7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHA7 NA NA NA ENSG00000166689 ENSE00003693487 NA NA NA NA NA NA NA 0.000173040691290598 FALSE NA ENSE00001313355_002 ENSE00001313355 002 11 16834607 16834776 - 53 54 63 G A 16834628 574 149 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGTATACTCACCTTTCTGAGAGTG 16813059 16813229 16813080 16813081 16813081 downstr_intron 32 1.61538461538462 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGTATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 502 705 0.998929372792297 1 0.999464686396149 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0104915033275724 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0118087732909087 NA FALSE NA 0.01 0.227 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 1 NA TGC G,A 8.236e-06 11:16813081 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 intron_variant 0.016037 0.30698 0.11382 0.080785 0.193086258653664 0.183407 0.000173040691290598 FALSE 4.06812e-06 ENSE00001313355_003 ENSE00001313355 003 11 16834607 16834776 - 53 54 63 G T 16834641 575 136 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTACTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813093 16813094 16813094 downstr_intron 19 1.36538461538462 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTACTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 35 65 1 1 1 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0115621305352752 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0123440868947601 NA FALSE NA 0.001 1.876 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 1 NA GGA G,T 8.236e-06 11:16813094 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 intron_variant 0.035659 0.49197 0.27105 0.074388 0.643324513608585 0.638547 0.000173040691290598 FALSE 2.4392e-05 ENSE00001313355_005 ENSE00001313355 005 11 16834607 16834776 - 53 54 63 T C 16834647 577 130 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCGGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813099 16813100 16813100 downstr_intron 13 1.25 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCGGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 484 346 0.814095163652696 1 0.907047581826348 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA -0.174342705812029 0.013126043254245 0.950623359904681 0.98765591310524 NA -0.0806083312788918 NA FALSE NA 0 -0.777 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 1 NA CTG T,C 8.236e-06 11:16813100 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 intron_variant -0.065548 0.2387 0.05154 0.080785 0.434582539072711 0.121008 0.000173040691290598 FALSE NA ENSE00001313355_006 ENSE00001313355 006 11 16834607 16834776 - 53 54 63 G C 16834648 578 129 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATGAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813100 16813101 16813101 downstr_intron 12 1.23076923076923 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATGAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 194 24 1 1 1 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0115621305352752 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0123440868947601 NA FALSE NA 0 -0.071 . intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 rs374147455 1 NA C:0 C:0.0002 TGA G,C 1.647e-05 11:16813101 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 intron_variant -0.217513 0.28491 0.09743 0.080785 0.300580826059264 0.121008 0.000173040691290598 FALSE 1.62551e-05 ENSE00001313355_008 ENSE00001313355 008 11 16834607 16834776 - 53 54 63 G A 16834651 580 126 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGATATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813103 16813104 16813104 downstr_intron 9 1.17307692307692 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGATATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 72 143 1 1 1 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0115621305352752 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0123440868947601 NA FALSE NA 0 -1.434 rs141857096 intron_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/4 rs141857096 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 TGT G,A 3.295e-05 11:16813104 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 intron_variant -0.021068 0.19592 0.02969 0.080785 0.265684467308136 0.133912 0.000173040691290598 FALSE 4.46991e-05 ENSE00001313355_009 ENSE00001313355 009 11 16834607 16834776 - 53 54 63 G C 16834665 581 112 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATGTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813117 16813118 16813118 exon -6 0.907407407407407 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATGTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 493 307 0.99874109550975 1 0.999370547754875 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0103032260450256 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0117146346496353 NA FALSE NA 1 5.293 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 1 NA AGA G,C 1.647e-05 11:16813118 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 missense_variant 6.351831 0.99583 0.98851 0.643511 0.998498175449593 0 0.000173040691290598 FALSE 1.62489e-05 ENSE00001313355_011 ENSE00001313355 011 11 16834607 16834776 - 53 54 63 C G 16834683 583 94 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAACACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813135 16813136 16813136 exon -24 0.574074074074074 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAACACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 633 19 1 1 1 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0115621305352752 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0123440868947601 NA FALSE NA 1 7.462 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 1 NA TCT C,G 8.236e-06 11:16813136 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 missense_variant 7.044527 0.99575 0.99228 0.643511 0.995549789767398 0 0.000173040691290598 FALSE 4.06151e-06 ENSE00001313355_012 ENSE00001313355 012 11 16834607 16834776 - 53 54 63 A G 16834697 584 80 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCCCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813149 16813150 16813150 exon 17 0.314814814814815 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCCCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 1694 171 0.993184694809626 1 0.996592347404813 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.00474682534490078 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.00893643429957292 NA FALSE NA 1 8.933 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 1 NA GAG A,G 8.236e-06 11:16813150 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 missense_variant 5.885135 0.9942 0.9935 0.643511 0.998880290859458 0 0.000173040691290598 FALSE NA ENSE00001313355_013 ENSE00001313355 013 11 16834607 16834776 - 53 54 63 G A 16834702 585 75 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACTTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813154 16813155 16813155 exon 12 0.222222222222222 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACTTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 56 255 1 1 1 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0115621305352752 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0123440868947601 NA FALSE NA 1 2.888 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 rs368677423 1 NA A:0.0005 A:0 AGG G,A 2.471e-05 11:16813155 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 synonymous_variant 1.077103 0.98437 0.90623 0.643511 0.707283824837577 0 0.000173040691290598 FALSE 1.62448e-05 ENSE00001313355_014 ENSE00001313355 014 11 16834607 16834776 - 53 54 63 G A 16834703 586 74 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATATCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813155 16813156 16813156 exon 11 0.203703703703704 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATATCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 100 411 1 0.995196940724761 0.997598470362381 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0115621305352752 0.0083229839790061 0.950623359904681 0.98765591310524 NA 0.00994255725714066 NA FALSE NA 1 9.445 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:16813156 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 missense_variant 6.558503 0.99564 0.99385 0.643511 0.998438309386462 0 0.000173040691290598 FALSE 8.12242e-06 ENSE00001313355_015 ENSE00001313355 015 11 16834607 16834776 - 53 54 63 G T 16834703 587 74 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATAACTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813155 16813156 16813156 exon 11 0.203703703703704 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATAACTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 101 45 0.990235015826294 1 0.995117507913147 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.00179714636156936 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0074615948079072 NA FALSE NA 1 9.445 NA NA NA PLEKHA7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHA7 NA NA NA ENSG00000166689 ENSE00003693487 missense_variant 4.983416 0.99578 0.99477 0.643511 0.992208897072459 0 0.000173040691290598 FALSE NA ENSE00001313355_016 ENSE00001313355 016 11 16834607 16834776 - 53 54 63 T C 16834709 588 68 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGGTGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813161 16813162 16813162 exon 5 0.0925925925925926 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGGTGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 43 35 1 1 1 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0115621305352752 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0123440868947601 NA FALSE NA 1 7.672 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 1 NA ATC T,C 8.236e-06 11:16813162 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 missense_variant 5.862951 0.99395 0.98877 0.643511 0.998523078619608 0 0.000173040691290598 FALSE 4.06128e-06 ENSE00001313355_017 ENSE00001313355 017 11 16834607 16834776 - 53 54 63 C T 16834710 589 67 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTAATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813162 16813163 16813163 exon 4 0.0740740740740741 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTAATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 1259 274 0.94274617392339 0.999422363341938 0.971084268632664 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA -0.0456916955413349 0.0125484065961826 0.950623359904681 0.98765591310524 NA -0.0165716444725761 NA FALSE NA 1 7.462 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 1 NA TCA C,T 1.647e-05 11:16813163 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 missense_variant 6.467606 0.99552 0.98988 0.643511 0.999128110235816 0 0.000173040691290598 FALSE 8.12262e-06 ENSE00001313355_018 ENSE00001313355 018 11 16834607 16834776 - 53 54 63 G A 16834728 590 49 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTTTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813180 16813181 16813181 upstr_intron -15 -0.222222222222222 CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTTTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 562 4813 0.997258689503775 0.8713239778049 0.934291333654338 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.00882082003905027 -0.115549978940855 0.950623359904681 0.98765591310524 NA -0.0533645794509022 NA FALSE NA 0.065 -0.403 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 1 NA AGA G,A 8.237e-06 11:16813181 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 non_coding_transcript_exon_variant 0.53117 0.27025 0.09122 0.074388 0.447447990058845 0.0833644 0.000173040691290598 FALSE NA ENSE00001313355_020 ENSE00001313355 020 11 16834607 16834776 - 53 54 63 A G 16834750 592 27 CCTCGAGTTATGGAAACTCTTGGTGTCCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813202 16813203 16813203 upstr_intron -37 -0.571428571428571 CCTCGAGTTATGGAAACTCTTGGTGTCCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 202 151 1 1 1 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.0115621305352752 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.0123440868947601 NA FALSE NA 0.061 3.593 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 rs529062072 1 G:0.0000 G:0 G:0 NA G:0 G:0 G:0 GAA A,G 2.471e-05 11:16813203 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 non_coding_transcript_exon_variant 0.354378 0.28218 0.26659 0.074388 0.479179467075791 0.596763 0.000173040691290598 FALSE 5.70098e-05 ENSE00001313355_021 ENSE00001313355 021 11 16834607 16834776 - 53 54 63 A G 16834751 593 26 CCTCGAGTTATGGAAACTCTTGGTGCTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813203 16813204 16813204 upstr_intron -38 -0.587301587301587 CCTCGAGTTATGGAAACTCTTGGTGCTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 462 1216 0.999732463723956 0.994527694057459 0.997130078890707 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.011294594259231 0.00765373731170427 0.950623359904681 0.98765591310524 NA 0.00947416578546761 NA FALSE NA 0.037 0.618 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 1 NA AAC A,G 1.647e-05 11:16813204 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 non_coding_transcript_exon_variant 0.327677 0.21064 0.02056 0.074388 0.587545961484396 0.0843852 0.000173040691290598 FALSE 8.162e-06 ENSE00001313355_022 ENSE00001313355 022 11 16834607 16834776 - 53 54 63 C G 16834755 594 22 CCTCGAGTTATGGAAACTCTTCGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813207 16813208 16813208 upstr_intron -42 -0.650793650793651 CCTCGAGTTATGGAAACTCTTCGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 562 62 0.990900296255481 1 0.99545014812774 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA 0.00246242679075603 0.013126043254245 0.950623359904681 0.98765591310524 NA 0.00779423502250054 NA FALSE NA 0 -0.126 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 rs372271457 1 NA G:0.0002 G:0 CCA C,G 8.236e-06 11:16813208 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 non_coding_transcript_exon_variant 0.101855 0.30458 0.08633 0.074388 0.540331260381955 0.0843852 0.000173040691290598 FALSE 4.08781e-06 ENSE00001313355_023 ENSE00001313355 023 11 16834607 16834776 - 53 54 63 A G 16834759 595 18 CCTCGAGTTATGGAAACCCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 16813211 16813212 16813212 upstr_intron -46 -0.714285714285714 CCTCGAGTTATGGAAACCCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG mutant NA NA NA NA NA 753 274 0.91183974599285 1 0.955919872996425 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 NA NA -0.0765981234718752 0.013126043254245 0.950623359904681 0.98765591310524 NA -0.0317360401088151 NA FALSE NA 0 0.086 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEKHA7 HGNC 27049 ENST00000525049 1/5 1 NA GAG A,G 1.647e-05 11:16813212 PLEKHA7 HGNC Symbol protein_coding 237126 ENSG00000166689 ENSE00003693487 non_coding_transcript_exon_variant -0.124471 0.11572 0.00177 0.074388 0.441786315155565 0.0843852 0.000173040691290598 FALSE 8.17635e-06 ENSE00001313355_BRK ENSE00001313355 BRK 11 16834607 16834776 - 53 54 63 A,G; T,T NA NA NA CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGATTGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGCCAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG 16813059 16813229 NA NA NA NA NA NA CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGATTGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGCCAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG CCTCGAGTTATGGAAACTCTTGGTGTTCATAACTGTGTTTTTTCCTCTCTGCTTCATTTGAAGGCTGATGATACCTACCTCCAGCTGAAGAAAGACCTGGAGTACCTGGATCTAAAGGTAAGTGACATCAGGGTTCCTGCCTTCCTTGCATACTCACCTTTCTGAGAGTG control 75 34 0 0 0 270 347 0.014882492230736 0 0.00744124611536799 0.975087867013111 0.92615885279625 0.988437869464725 0.986873956745755 -0.975087867013111 -0.92615885279625 -0.973555377233989 -0.986873956745755 0.950623359904681 0.98765591310524 -0.950623359904681 -0.980214666989872 0.0295913070851913 TRUE TRUE NA NA NA NA NA PLEKHA7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHA7 NA NA NA ENSG00000166689 ENSE00003693487 NA NA NA NA NA NA NA 0.000173040691290598 FALSE NA ENSE00001313988_000 ENSE00001313988 000 2 236715839 236716008 + 44 93 33 NA NA NA NA NA CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 NA NA NA NA NA NA ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG natural 50 61 0.995146468896991 0.987312997033135 0.991229732965063 2741 1927 0.96706959365866 0.99514701919906 0.98110830642886 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 0 0 0 0 0.991229732965063 0.98110830642886 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AGAP1 NA NA NA ENSG00000157985 ENSE00001313988 NA NA NA NA NA NA NA 0.999356435740804 TRUE NA ENSE00001313988_001 ENSE00001313988 001 2 236715839 236716008 + 44 93 33 T G 236715849 5491 11 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTACGGGCTGTGGT 235807194 235807364 235807204 235807205 235807205 upstr_intron -34 -0.75 ACCACAGCCCGTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 189 1391 0.984015131231836 0.91982741403168 0.951921272631758 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0169455375731764 -0.07531960516738 0.991229732965063 0.98110830642886 NA -0.0291870337971018 NA FALSE NA 0 -0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:235807205 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 intron_variant 0.114884 0.38188 0.25483 0.077194 0.651650068652282 0.0955679 0.999356435740804 TRUE 3.76594e-05 ENSE00001313988_002 ENSE00001313988 002 2 236715839 236716008 + 44 93 33 T C 236715849 5492 11 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAGGGGCTGTGGT 235807194 235807364 235807204 235807205 235807205 upstr_intron -34 -0.75 ACCACAGCCCCTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 20 92 1 1 1 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00485298080093965 0.991229732965063 0.98110830642886 NA 0.01889169357114 NA FALSE NA 0 -0.015 NA NA NA AGAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AGAP1 NA NA NA ENSG00000157985 ENSE00001313988 intron_variant 0.00864 0.33752 0.1644 0.077194 0.604342981834814 0.0955679 0.999356435740804 TRUE 4.18438e-06 ENSE00001313988_003 ENSE00001313988 003 2 236715839 236716008 + 44 93 33 A G 236715863 5493 25 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGCTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807218 235807219 235807219 upstr_intron -20 -0.431818181818182 ACCACAGCCCTTACCCAGATGCCAGCTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 416 1212 0.986854571279845 0.892492520317289 0.939673545798567 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0197849776211854 -0.102654498881771 0.991229732965063 0.98110830642886 NA -0.0414347606302931 NA FALSE NA 1 3.727 . intron_variant MODIFIER AGAP1 HGNC 16922 ENST00000304032 8/17 1 NA AAC A,G 8.236e-06 2:235807219 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 intron_variant 1.562294 0.98098 0.86202 0.077194 0.797898337379485 0.782515 0.999356435740804 TRUE 8.31573e-06 ENSE00001313988_004 ENSE00001313988 004 2 236715839 236716008 + 44 93 33 T C 236715866 5494 28 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAGAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807221 235807222 235807222 upstr_intron -17 -0.363636363636364 ACCACAGCCCTTACCCAGATGCCAACTCTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 613 118 0.812309027738607 0.950914023267027 0.881611525502817 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA -0.154760565920053 -0.0442329959320333 0.991229732965063 0.98110830642886 NA -0.0994967809260431 NA FALSE NA 1 2.741 . intron_variant MODIFIER AGAP1 HGNC 16922 ENST00000304032 8/17 rs376344263 1 NA C:0 C:0.0001 TTT T,C 8.236e-06 2:235807222 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 intron_variant 1.635849 0.97721 0.91537 0.077194 0.802468062609219 0.824579 0.999356435740804 TRUE 4.15348e-06 ENSE00001313988_005 ENSE00001313988 005 2 236715839 236716008 + 44 93 33 T C 236715867 5495 29 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGGAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807222 235807223 235807223 upstr_intron -16 -0.340909090909091 ACCACAGCCCTTACCCAGATGCCAACTTCCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 113 347 1 0.998895664599682 0.999447832299841 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00374864540062203 0.991229732965063 0.98110830642886 NA 0.0183395258709812 NA FALSE NA 0.995 2.02 . intron_variant MODIFIER AGAP1 HGNC 16922 ENST00000304032 8/17 1 NA TTC T,C 1.647e-05 2:235807223 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 intron_variant 1.631621 0.97647 0.89077 0.077194 0.803336927773036 0.421594 0.999356435740804 TRUE 1.66116e-05 ENSE00001313988_006 ENSE00001313988 006 2 236715839 236716008 + 44 93 33 C G 236715868 5496 30 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGCAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807223 235807224 235807224 upstr_intron -15 -0.318181818181818 ACCACAGCCCTTACCCAGATGCCAACTTTGCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 615 614 0.999001815365532 1 0.999500907682766 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0319322217068727 0.00485298080093965 0.991229732965063 0.98110830642886 NA 0.0183926012539062 NA FALSE NA 0 -0.879 . intron_variant MODIFIER AGAP1 HGNC 16922 ENST00000304032 8/17 1 NA TCC C,G 1.647e-05 2:235807224 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 intron_variant 1.485893 0.88119 0.09559 0.077194 0.73668752858542 0.424169 0.999356435740804 TRUE 2.48959e-05 ENSE00001313988_007 ENSE00001313988 007 2 236715839 236716008 + 44 93 33 C T 236715869 5497 31 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAAGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807224 235807225 235807225 upstr_intron -14 -0.295454545454545 ACCACAGCCCTTACCCAGATGCCAACTTTCTTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 94 884 1 0.99961160087846 0.99980580043923 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00446458167939945 0.991229732965063 0.98110830642886 NA 0.0186974940103699 NA FALSE NA 0 -0.538 . intron_variant MODIFIER AGAP1 HGNC 16922 ENST00000304032 8/17 1 NA CCT C,T 8.236e-06 2:235807225 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 intron_variant 1.516535 0.9171 0.09344 0.077194 0.862903486878941 0.421926 0.999356435740804 TRUE 8.29641e-06 ENSE00001313988_008 ENSE00001313988 008 2 236715839 236716008 + 44 93 33 T C 236715883 5498 45 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGGCTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807238 235807239 235807239 exon 1 0.010752688172043 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGCCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 170 631 1 0.993375973189208 0.996687986594604 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 -0.00177104600985234 0.991229732965063 0.98110830642886 NA 0.015579680165744 NA FALSE NA 1 7.733 . missense_variant&splice_region_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 rs202230563 1 tolerated(0.32) probably_damaging(0.995) NA C:0 C:0.0005 GTC T,C 0.000313 2:235807239 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 4.032818 0.99327 0.98761 0.741868 0.992895456570369 0 0.999356435740804 TRUE 0.000430147 ENSE00001313988_010 ENSE00001313988 010 2 236715839 236716008 + 44 93 33 C T 236715886 5500 48 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCAAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807241 235807242 235807242 exon 4 0.043010752688172 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTTGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 676 932 1 0.994266149773785 0.997133074886893 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 -0.000880869425274877 0.991229732965063 0.98110830642886 NA 0.0160247684580327 NA FALSE NA 1 4.733 NA NA NA AGAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:235807242 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 6.963428 0.98408 0.95185 0.741868 0.999230253303808 0 0.999356435740804 TRUE 4.12042e-06 ENSE00001313988_011 ENSE00001313988 011 2 236715839 236716008 + 44 93 33 G A 236715887 5501 49 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCTGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807242 235807243 235807243 exon 5 0.0537634408602151 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCAGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 505 751 0.999755268010092 0.948190891740374 0.973973079875233 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0326856743514328 -0.0469561274586867 0.991229732965063 0.98110830642886 NA -0.00713522655362697 NA FALSE NA 1 9.49 . missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 1 deleterious(0.02) possibly_damaging(0.457) NA CGG G,A 4.118e-05 2:235807243 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 6.69016 0.99517 0.99323 0.741868 0.999288701543323 0 0.999356435740804 TRUE 3.71024e-05 ENSE00001313988_013 ENSE00001313988 013 2 236715839 236716008 + 44 93 33 G T 236715898 5503 60 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTAGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807253 235807254 235807254 exon 16 0.172043010752688 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCTACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 157 935 0.998416557334713 0.998230361101047 0.99832345921788 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0313469636760537 0.00308334190198634 0.991229732965063 0.98110830642886 NA 0.01721515278902 NA FALSE NA 1 9.49 . missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 COSM3579489 1 deleterious(0) probably_damaging(0.983) NA CGA G,T 8.236e-06 2:235807254 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 6.673758 0.99539 0.99412 0.741868 0.99496330477498 0 0.999356435740804 TRUE 4.12368e-06 ENSE00001313988_014 ENSE00001313988 014 2 236715839 236716008 + 44 93 33 C G 236715902 5504 64 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTCGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807257 235807258 235807258 exon 20 0.21505376344086 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCGAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 100 994 1 0.997726981637911 0.998863490818956 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00257996243885072 0.991229732965063 0.98110830642886 NA 0.0177551843900955 NA FALSE NA 1 5.698 . missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 1 tolerated(0.25) probably_damaging(0.999) NA CCA C,G 8.236e-06 2:235807258 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 4.023835 0.99505 0.98628 0.741868 0.907774833537982 0 0.999356435740804 TRUE NA ENSE00001313988_015 ENSE00001313988 015 2 236715839 236716008 + 44 93 33 A C 236715907 5505 69 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTGGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807262 235807263 235807263 exon 25 0.268817204301075 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACCAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 527 83 0.995055517410748 1 0.997527758705374 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.027985923752088 0.00485298080093965 0.991229732965063 0.98110830642886 NA 0.0164194522765138 NA FALSE NA 1 7.14 rs149772875 missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 rs149772875 1 deleterious(0.04) benign(0.348) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0.0005 C:0.0008 CAA A,C 0.001046 2:235807263 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 2.212317 0.99354 0.98443 0.741868 0.986510890007562 0 0.999356435740804 TRUE 0.000856877 ENSE00001313988_016 ENSE00001313988 016 2 236715839 236716008 + 44 93 33 A G 236715918 5506 80 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCCTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807273 235807274 235807274 exon 36 0.387096774193548 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAGGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 276 216 1 1 1 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00485298080093965 0.991229732965063 0.98110830642886 NA 0.01889169357114 NA FALSE NA 1 2.522 . synonymous_variant LOW AGAP1 HGNC 16922 ENST00000304032 9/18 1 NA AAG A,G 1.647e-05 2:235807274 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 synonymous_variant -0.046692 0.97036 0.82505 0.741868 0.581263019842159 0 0.999356435740804 TRUE 8.40916e-06 ENSE00001313988_017 ENSE00001313988 017 2 236715839 236716008 + 44 93 33 C A 236715921 5507 83 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGTCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807276 235807277 235807277 exon 39 0.419354838709677 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGACTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 297 697 1 1 1 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00485298080093965 0.991229732965063 0.98110830642886 NA 0.01889169357114 NA FALSE NA 0.999 0.55 . synonymous_variant LOW AGAP1 HGNC 16922 ENST00000304032 9/18 1 NA GCC C,A 8.236e-06 2:235807277 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 synonymous_variant 1.687608 0.97618 0.90485 0.741868 0.61935092073932 0 0.999356435740804 TRUE 8.4139e-06 ENSE00001313988_018 ENSE00001313988 018 2 236715839 236716008 + 44 93 33 G A 236715925 5508 87 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTTCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807280 235807281 235807281 exon 43 0.462365591397849 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGAAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 15 154 1 1 1 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00485298080093965 0.991229732965063 0.98110830642886 NA 0.01889169357114 NA FALSE NA 1 9.49 . missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 rs372723604 1 tolerated(0.17) possibly_damaging(0.9) NA A:0 A:0.0001 GGA G,A 8.236e-06 2:235807281 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 4.956135 0.99463 0.99241 0.741868 0.998577606788334 0 0.999356435740804 TRUE 4.19836e-06 ENSE00001313988_019 ENSE00001313988 019 2 236715839 236716008 + 44 93 33 C T 236715931 5509 93 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACAACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807286 235807287 235807287 exon -45 0.526881720430108 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTTGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 576 1096 1 1 1 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00485298080093965 0.991229732965063 0.98110830642886 NA 0.01889169357114 NA FALSE NA 0.993 2.569 . missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 1 deleterious(0) probably_damaging(0.943) NA TCG C,T 1.647e-05 2:235807287 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 6.528716 0.93674 0.87309 0.741868 0.999172793971449 0 0.999356435740804 TRUE 2.11081e-05 ENSE00001313988_020 ENSE00001313988 020 2 236715839 236716008 + 44 93 33 G A 236715932 5510 94 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCATGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807287 235807288 235807288 exon -44 0.537634408602151 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCATGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 711 649 0.998678055692916 0.99749849710911 0.998088276401013 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0316084620342563 0.00235147791004975 0.991229732965063 0.98110830642886 NA 0.016979969972153 NA FALSE NA 1 5.485 rs143715398 missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 rs143715398 1 tolerated(0.14) benign(0.02) A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0002 A:0.0001 CGT G,A 4.118e-05 2:235807288 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 4.248497 0.96098 0.95392 0.741868 0.996199206667765 0 0.999356435740804 TRUE 2.11027e-05 ENSE00001313988_021 ENSE00001313988 021 2 236715839 236716008 + 44 93 33 C T 236715939 5511 101 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTATCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807294 235807295 235807295 exon -37 0.612903225806452 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGATAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 412 355 0.982792508090453 1 0.991396254045227 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0157229144317937 0.00485298080093965 0.991229732965063 0.98110830642886 NA 0.0102879476163667 NA FALSE NA 1 2.35 . synonymous_variant LOW AGAP1 HGNC 16922 ENST00000304032 9/18 1 NA ACA C,T 8.237e-06 2:235807295 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 synonymous_variant 1.278904 0.98602 0.90915 0.741868 0.684738200414224 0 0.999356435740804 TRUE NA ENSE00001313988_022 ENSE00001313988 022 2 236715839 236716008 + 44 93 33 T C 236715944 5512 106 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAGTGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807299 235807300 235807300 exon -32 0.666666666666667 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCACTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 15 648 1 0.9988762710703 0.99943813553515 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00372925187123951 0.991229732965063 0.98110830642886 NA 0.0183298291062899 NA FALSE NA 1 7.733 . missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 1 tolerated(0.26) possibly_damaging(0.715) NA ATT T,C 2.471e-05 2:235807300 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 3.881339 0.99249 0.98581 0.741868 0.950641729185959 0 0.999356435740804 TRUE 2.99765e-05 ENSE00001313988_023 ENSE00001313988 023 2 236715839 236716008 + 44 93 33 C T 236715951 5513 113 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCACTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807306 235807307 235807307 exon -25 0.741935483870968 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGTGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 67 1389 0.969267622768089 0.931283504273063 0.950275563520576 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0021980291094289 -0.063863514925997 0.991229732965063 0.98110830642886 NA -0.030832742908284 NA FALSE NA 0.999 0.676 rs148104642 synonymous_variant LOW AGAP1 HGNC 16922 ENST00000304032 9/18 rs148104642 1 T:0.0012 T:0.0045 T:0 NA T:0 T:0 T:0 T:0.0041 T:0 GCG C,T 0.0003624 2:235807307 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 synonymous_variant 1.972533 0.97845 0.86923 0.741868 0.751140073109467 0 0.999356435740804 TRUE 0.000275504 ENSE00001313988_024 ENSE00001313988 024 2 236715839 236716008 + 44 93 33 G A 236715952 5514 114 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCTGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807307 235807308 235807308 exon -24 0.752688172043011 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCAGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 195 511 1 0.997326568446389 0.998663284223194 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00217954924732844 0.991229732965063 0.98110830642886 NA 0.0175549777943344 NA FALSE NA 1 9.49 . missense_variant MODERATE AGAP1 HGNC 16922 ENST00000304032 9/18 COSM442536 1 deleterious(0.04) possibly_damaging(0.577) NA CGG G,A 8.237e-06 2:235807308 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 missense_variant 6.53483 0.99463 0.99241 0.741868 0.998873152815427 0 0.999356435740804 TRUE NA ENSE00001313988_025 ENSE00001313988 025 2 236715839 236716008 + 44 93 33 C T 236715960 5515 122 CGACAGGGAGGGAAGGATGGGGAGGCTGCTCACCTGTTTAATTGGGATAGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807315 235807316 235807316 exon -16 0.838709677419355 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCTATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 617 16 1 0.883456825847689 0.941728412923845 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 -0.111690193351371 0.991229732965063 0.98110830642886 NA -0.0393798935050154 NA FALSE NA 0.997 0.478 . synonymous_variant LOW AGAP1 HGNC 16922 ENST00000304032 9/18 1 NA CCA C,T 8.236e-06 2:235807316 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 synonymous_variant 1.630428 0.96732 0.79305 0.741868 0.854297190808744 0 0.999356435740804 TRUE NA ENSE00001313988_026 ENSE00001313988 026 2 236715839 236716008 + 44 93 33 G A 236715978 5516 140 CGACAGGGAGGGAAGGATGGGGAGGCTGCTTACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807333 235807334 235807334 downstr_intron 3 1.09375 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTAAGCAGCCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 366 294 1 0.994648300181626 0.997324150090813 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 -0.000498719017434146 0.991229732965063 0.98110830642886 NA 0.0162158436619531 NA FALSE NA 0.998 3.059 . splice_region_variant&intron_variant LOW AGAP1 HGNC 16922 ENST00000304032 9/17 rs376965547&COSM233868 1 NA A:0.0002 A:0 TGA G,A 8.237e-06 2:235807334 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 splice_region_variant 0.376163 0.91907 0.51092 0.114469 0.732151625597075 0.285186 0.999356435740804 TRUE NA ENSE00001313988_027 ENSE00001313988 027 2 236715839 236716008 + 44 93 33 C G 236715984 5517 146 CGACAGGGAGGGAAGGATGGGGAGCCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807339 235807340 235807340 downstr_intron 9 1.28125 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGGCTCCCCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 487 600 0.998422933908918 0.998656787561712 0.998539860735315 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0313533402502582 0.00350976836265116 0.991229732965063 0.98110830642886 NA 0.0174315543064547 NA FALSE NA 0 -1.199 . intron_variant MODIFIER AGAP1 HGNC 16922 ENST00000304032 9/17 rs201945433 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GCC C,G 8.237e-06 2:235807340 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 intron_variant -0.705715 0.2694 0.13706 0.114469 0.426593600730868 0.111695 0.999356435740804 TRUE 4.78849e-06 ENSE00001313988_028 ENSE00001313988 028 2 236715839 236716008 + 44 93 33 C G 236715989 5518 151 CGACAGGGAGGGAAGGATGCGGAGGCTGCTCACCTGTTTAATTGGGATGGCTCGGCCGCTCCCAATGCTGTCCGCACGACTCTCCAGGCCTTTCTTCTCTTTGTCTGGGTCGCTCCCTTTCCGAGACTGCAAAGCAAAAGGAAAGTTGGCATCTGGGTAAGGGCTGTGGT 235807194 235807364 235807344 235807345 235807345 downstr_intron 14 1.4375 ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCGCATCCTTCCCTCCCTGTCG ACCACAGCCCTTACCCAGATGCCAACTTTCCTTTTGCTTTGCAGTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGTGAGCAGCCTCCCCATCCTTCCCTCCCTGTCG mutant NA NA NA NA NA 346 383 1 0.999801022567976 0.999900511283988 0.995146468896991 0.987312997033135 0.96706959365866 0.99514701919906 NA NA 0.0329304063413404 0.00465400336891519 0.991229732965063 0.98110830642886 NA 0.0187922048551278 NA FALSE NA 0 0.024 . intron_variant MODIFIER AGAP1 HGNC 16922 ENST00000304032 9/17 1 NA CCC C,G 8.237e-06 2:235807345 AGAP1 HGNC Symbol protein_coding 637711 ENSG00000157985 ENSE00001313988 intron_variant -0.563981 0.23271 0.25015 0.114469 0.544909324039864 0.111695 0.999356435740804 TRUE NA ENSE00001315144_000 ENSE00001315144 000 22 33260867 33261036 - 35 90 45 NA NA NA NA NA CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA 32864879 32865049 NA NA NA NA NA NA CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA natural NA NA NA NA NA 347 727 0.839967148056055 0.974575793860285 0.90727147095817 NA NA 0.839967148056055 0.974575793860285 NA NA 0 0 NA 0.90727147095817 NA 0 NA FALSE NA NA NA NA NA NA SYN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYN3 NA NA NA ENSG00000185666 ENSE00003488779 NA NA NA NA NA NA NA 0.577812323529965 FALSE NA ENSE00001315144_005 ENSE00001315144 005 22 33260867 33261036 - 35 90 45 G A 33260918 668 119 CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCTCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA 32864879 32865049 32864930 32864931 32864931 exon -17 0.822222222222222 CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCTCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA mutant NA NA NA NA NA 20 141 1 1 1 NA NA 0.839967148056055 0.974575793860285 NA NA 0.160032851943945 0.0254242061397152 NA 0.90727147095817 NA 0.0927285290418303 NA FALSE NA 1 7.946 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYN3 HGNC 11496 ENST00000462268 2/3 1 NA GGG G,A 8.236e-06 22:32864931 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00003488779 missense_variant 5.497406 0.98183 0.95765 0.706548 0.997551664080585 0 0.577812323529965 FALSE 4.06144e-06 ENSE00001315144_007 ENSE00001315144 007 22 33260867 33261036 - 35 90 45 T G 33260930 670 107 CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCCAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA 32864879 32865049 32864942 32864943 32864943 exon -29 0.688888888888889 CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCCAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA mutant NA NA NA NA NA 32 424 0.975148744736689 0.999910193158068 0.987529468947379 NA NA 0.839967148056055 0.974575793860285 NA NA 0.135181596680635 0.0253343992977828 NA 0.90727147095817 NA 0.0802579979892089 NA FALSE NA 1 7.98 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYN3 HGNC 11496 ENST00000462268 2/3 1 NA TTG T,G 8.236e-06 22:32864943 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00003488779 missense_variant 4.332279 0.97705 0.96276 0.706548 0.991300033735546 0 0.577812323529965 FALSE 4.06141e-06 ENSE00001315144_013 ENSE00001315144 013 22 33260867 33261036 - 35 90 45 A C 33260994 676 43 CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCGAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA 32864879 32865049 32865006 32865007 32865007 upstr_intron -3 -0.0444444444444444 CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCGAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA mutant NA NA NA NA NA 226 376 0.992480767178398 0.996693926727528 0.994587346952963 NA NA 0.839967148056055 0.974575793860285 NA NA 0.152513619122344 0.0221181328672434 NA 0.90727147095817 NA 0.0873158759947935 NA FALSE NA 0.528 0.23 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SYN3 HGNC 11496 ENST00000462268 1/2 1 NA TAG A,C 8.236e-06 22:32865007 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00003488779 splice_region_variant 1.089974 0.47737 0.54431 0.099367 0.870037079787652 0.396889 0.577812323529965 FALSE 4.06246e-06 ENSE00001315144_018 ENSE00001315144 018 22 33260867 33261036 - 35 90 45 T C 33261016 681 21 CTGGGTGACAATAGTTGATCGATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA 32864879 32865049 32865028 32865029 32865029 upstr_intron -25 -0.533333333333333 CTGGGTGACAATAGTTGATCGATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA mutant NA NA NA NA NA 1753 197 0.999788524811135 1 0.999894262405567 NA NA 0.839967148056055 0.974575793860285 NA NA 0.15982137675508 0.0254242061397152 NA 0.90727147095817 NA 0.0926227914473977 NA FALSE NA 0 0.044 . intron_variant&non_coding_transcript_variant MODIFIER SYN3 HGNC 11496 ENST00000462268 1/2 1 NA TTG T,C 8.236e-06 22:32865029 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00003488779 intron_variant 0.228608 0.27561 0.06976 0.088506 0.778918374629297 0.0658205 0.577812323529965 FALSE 1.21948e-05 ENSE00001315144_019 ENSE00001315144 019 22 33260867 33261036 - 35 90 45 A T 33261025 682 12 CTGGGTGACAAAAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA 32864879 32865049 32865037 32865038 32865038 upstr_intron -34 -0.733333333333333 CTGGGTGACAAAAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA CTGGGTGACAATAGTTGATCAATGTTCTCTCCTCTTCTATCCTAGTTCTCTCAGCTCATTAAGATCTTCCATTCCCTGGGTCCTGAGAAGTTCCCGCTTGTGGAGCAAACATTTTTCCCCAACCATAAGCCAATGGTGAGTGCCCTTTTTTACTCTGTTTCTTTGCATGA mutant NA NA NA NA NA 73 150 1 0.998173247922811 0.999086623961406 NA NA 0.839967148056055 0.974575793860285 NA NA 0.160032851943945 0.0235974540625266 NA 0.90727147095817 NA 0.091815153003236 NA FALSE NA 0 -0.898 . intron_variant&non_coding_transcript_variant MODIFIER SYN3 HGNC 11496 ENST00000462268 1/2 1 NA TAT A,T 8.236e-06 22:32865038 SYN3 HGNC Symbol protein_coding 545820 ENSG00000185666 ENSE00003488779 intron_variant 0.09608 0.19087 0.08709 0.088506 0.668643959495851 0.0457059 0.577812323529965 FALSE 4.06693e-06 ENSE00001315953_000 ENSE00001315953 000 8 74231290 74231459 + 41 99 30 NA NA NA NA NA CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT 73319054 73319224 NA NA NA NA NA NA CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT natural 46 35 0.968533622178003 0.988343344406303 0.978438483292153 1595 3413 0.989302741649676 0.993849738984701 0.991576240317189 0.968533622178003 0.988343344406303 0.989302741649676 0.993849738984701 0 0 0 0 0.978438483292153 0.991576240317189 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001315953 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001315953_002 ENSE00001315953 002 8 74231290 74231459 + 41 99 30 G A 74231300 1479 11 CATGAAATCAATTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT 73319054 73319224 73319064 73319065 73319065 upstr_intron -31 -0.731707317073171 CATGAAATCAATTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT mutant NA NA NA NA NA 60 24 1 1 1 0.968533622178003 0.988343344406303 0.989302741649676 0.993849738984701 NA NA 0.0106972583503239 0.00615026101529881 0.978438483292153 0.991576240317189 NA 0.00842375968281134 NA FALSE NA 0 -2.769 NA NA NA RDH10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RDH10 NA NA NA ENSG00000121039 ENSE00001315953 intron_variant 0.143313 0.16077 0.01993 0.078448 0.629712325947311 0.0673029 0.934320138948288 TRUE 4.21546e-06 ENSE00001316483_000 ENSE00001316483 000 1 240990356 240990525 - 42 75 53 NA NA NA NA NA GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 NA NA NA NA NA NA TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC natural 35 63 0.9987019584709 0.996102537175965 0.997402247823433 3046 3905 0.852498569202386 0.977449584970694 0.91497407708654 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 0 0 0 0 0.997402247823433 0.91497407708654 0 0 0 FALSE FALSE NA NA NA NA NA RGS7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS7 NA NA NA ENSG00000182901 ENSE00001316483 NA NA NA NA NA NA NA 0.781745872893189 FALSE NA ENSE00001316483_001 ENSE00001316483 001 1 240990356 240990525 - 42 75 53 C T 240990368 5361 158 GCAATCCATCACTAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827067 240827068 240827068 downstr_intron 30 1.73170731707317 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTAGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 154 411 1 0.979745078625888 0.989872539312944 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.147501430797614 0.0022954936551941 0.997402247823433 0.91497407708654 NA 0.0748984622264042 NA FALSE NA 0 0.664 rs150512606 intron_variant MODIFIER RGS7 HGNC 10003 ENST00000440928 3/11 rs150512606 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0023 T:0 CCA C,T 0.0003954 1:240827068 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 intron_variant 1.230049 0.18048 0.01614 0.080754 0.820314965627359 0.0692436 0.781745872893189 FALSE 0.000255877 ENSE00001316483_002 ENSE00001316483 002 1 240990356 240990525 - 42 75 53 G C 240990376 5362 150 GCAATCCATCACCAAGATCACCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827075 240827076 240827076 downstr_intron 22 1.53658536585366 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGGTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 100 153 1 1 1 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.147501430797614 0.0225504150293058 0.997402247823433 0.91497407708654 NA 0.08502592291346 NA FALSE NA 0 -0.368 . intron_variant MODIFIER RGS7 HGNC 10003 ENST00000440928 3/11 1 NA AGC G,C 8.237e-06 1:240827076 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 intron_variant 1.076742 0.12816 0.03007 0.080754 0.704580146722522 0.0692436 0.781745872893189 FALSE 4.06118e-06 ENSE00001316483_003 ENSE00001316483 003 1 240990356 240990525 - 42 75 53 A C 240990384 5363 142 GCAATCCATCACCAAGATCAGCACAACACATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827083 240827084 240827084 downstr_intron 14 1.34146341463415 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATGTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 828 949 0.910871300765847 0.997673176289098 0.954272238527473 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.0583727315634615 0.0202235913184039 0.997402247823433 0.91497407708654 NA 0.0392981614409327 NA FALSE NA 0 -1.311 rs58250726 intron_variant MODIFIER RGS7 HGNC 10003 ENST00000440928 3/11 rs58250726 1 C:0.0084 C:0.0295 C:0.0014 NA C:0 C:0.001 C:0.001 C:0.0302 C:0.0001 AAA A,C 0.002924 1:240827084 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 intron_variant -0.403777 0.08354 0.00777 0.080754 0.401753732308653 0.0692436 0.781745872893189 FALSE 0.00237154 ENSE00001316483_004 ENSE00001316483 004 1 240990356 240990525 - 42 75 53 T G 240990399 5364 127 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCGTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827098 240827099 240827099 exon -2 0.986666666666667 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGACGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 35 10 0.978131940683305 1 0.989065970341653 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.12563337148092 0.0225504150293058 0.997402247823433 0.91497407708654 NA 0.0740918932551127 NA FALSE NA 1 6.522 rs142914399 missense_variant&splice_region_variant MODERATE RGS7 HGNC 10003 ENST00000440928 3/12 1 deleterious(0.03) benign(0.219) NA CTT T,G 8.237e-06 1:240827099 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 missense_variant 3.229657 0.98793 0.95902 0.554377 0.99739272072019 0 0.781745872893189 FALSE NA ENSE00001316483_005 ENSE00001316483 005 1 240990356 240990525 - 42 75 53 C T 240990401 5365 125 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTTCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827100 240827101 240827101 exon -4 0.96 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGAAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 369 746 1 1 1 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.147501430797614 0.0225504150293058 0.997402247823433 0.91497407708654 NA 0.08502592291346 NA FALSE NA 0.932 -0.061 . synonymous_variant LOW RGS7 HGNC 10003 ENST00000440928 3/12 1 NA TCC C,T 1.647e-05 1:240827101 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 synonymous_variant 1.691771 0.84135 0.26826 0.554377 0.817076372332262 0 0.781745872893189 FALSE 8.12163e-06 ENSE00001316483_007 ENSE00001316483 007 1 240990356 240990525 - 42 75 53 G C 240990412 5367 114 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTCGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827111 240827112 240827112 exon -15 0.813333333333333 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCGACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 407 403 0.99640634329968 0.998954415753201 0.997680379526441 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.143907774097294 0.0215048307825072 0.997402247823433 0.91497407708654 NA 0.0827063024399005 NA FALSE NA 1 8.027 . missense_variant MODERATE RGS7 HGNC 10003 ENST00000440928 3/12 COSM533692&COSM1139092&COSM1648512 1 tolerated(0.27) benign(0.093) NA TGG G,C 8.237e-06 1:240827112 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 missense_variant 2.869449 0.99065 0.97795 0.554377 0.990537421701522 0 0.781745872893189 FALSE 4.06081e-06 ENSE00001316483_010 ENSE00001316483 010 1 240990356 240990525 - 42 75 53 A G 240990479 5370 47 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAGTGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827178 240827179 240827179 upstr_intron -7 -0.113207547169811 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCACTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 296 169 0.995307391178975 0.999774493993881 0.997540942586428 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.142808821976589 0.022324909023187 0.997402247823433 0.91497407708654 NA 0.0825668654998881 NA FALSE NA 0.982 1.426 . splice_region_variant&intron_variant LOW RGS7 HGNC 10003 ENST00000440928 2/11 rs373597165 1 NA G:0.0002 G:0 AAT A,G 8.236e-06 1:240827179 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 splice_region_variant 1.042095 0.18856 0.15771 0.056701 0.767368285923798 0.333456 0.781745872893189 FALSE 1.62433e-05 ENSE00001316483_012 ENSE00001316483 012 1 240990356 240990525 - 42 75 53 A T 240990487 5372 39 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAATCAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827186 240827187 240827187 upstr_intron -15 -0.264150943396226 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGATTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 640 563 0.995848317289062 1 0.997924158644531 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.143349748086676 0.0225504150293058 0.997402247823433 0.91497407708654 NA 0.0829500815579911 NA FALSE NA 0.278 1.197 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:240827187 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 intron_variant 1.372394 0.50027 0.06464 0.056701 0.796008227405187 0.234547 0.781745872893189 FALSE 1.21826e-05 ENSE00001316483_013 ENSE00001316483 013 1 240990356 240990525 - 42 75 53 A C 240990487 5373 39 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAACCAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827186 240827187 240827187 upstr_intron -15 -0.264150943396226 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGGTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 754 280 1 0.995958430882578 0.997979215441289 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.147501430797614 0.0185088459118835 0.997402247823433 0.91497407708654 NA 0.0830051383547489 NA FALSE NA 0.278 1.197 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00001316483 intron_variant 1.338419 0.50294 0.20401 0.056701 0.761444061449583 0.234547 NA NA 1.62435e-05 ENSE00001316483_014 ENSE00001316483 014 1 240990356 240990525 - 42 75 53 A G 240990487 5374 39 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAGCAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827186 240827187 240827187 upstr_intron -15 -0.264150943396226 TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGCTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 186 444 1 0.999643634808556 0.999821817404278 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.147501430797614 0.022194049837862 0.997402247823433 0.91497407708654 NA 0.0848477403177381 NA FALSE NA 0.278 1.197 NA NA NA RGS7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS7 NA NA NA ENSG00000182901 ENSE00001316483 intron_variant 1.551366 0.42093 0.04599 0.056701 0.762378976931065 0.234547 0.781745872893189 FALSE NA ENSE00001316483_015 ENSE00001316483 015 1 240990356 240990525 - 42 75 53 G T 240990492 5375 34 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGATAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827191 240827192 240827192 upstr_intron -20 -0.358490566037736 TCAGAAATTTCACACCCAAAGATTCATTTGTCTATCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 80 304 0.974115434383223 0.993345681519195 0.983730557951209 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.121616865180838 0.0158960965485009 0.997402247823433 0.91497407708654 NA 0.0687564808646692 NA FALSE NA 0.944 0.338 . intron_variant MODIFIER RGS7 HGNC 10003 ENST00000440928 2/11 rs373504564 1 NA T:0.0011 T:0 AGA G,T 4.118e-05 1:240827192 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 intron_variant 1.136483 0.95015 0.75941 0.056701 0.718234002582631 0.316113 0.781745872893189 FALSE 2.03061e-05 ENSE00001316483_017 ENSE00001316483 017 1 240990356 240990525 - 42 75 53 C A 240990496 5377 30 GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTACCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGCTGGGAATGGAAAAACAGAGAGAAAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 240827195 240827196 240827196 upstr_intron -24 -0.433962264150943 TCAGAAATTTCACACCCAAAGATTCATTTTTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC mutant NA NA NA NA NA 1026 476 0.998293447315078 0.999196458220257 0.998744952767668 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 NA NA 0.145794878112692 0.0217468732495629 0.997402247823433 0.91497407708654 NA 0.0837708756811276 NA FALSE NA 0.006 -0.465 . intron_variant MODIFIER RGS7 HGNC 10003 ENST00000440928 2/11 rs376767387 1 NA A:0.0011 A:0 ACA C,A 8.236e-05 1:240827196 RGS7 HGNC Symbol protein_coding 581715 ENSG00000182901 ENSE00001316483 intron_variant 0.559325 0.14394 0.00701 0.056701 0.814259887395299 0.0840473 0.781745872893189 FALSE 7.71699e-05 ENSE00001316483_BRK ENSE00001316483 BRK 1 240990356 240990525 - 42 75 53 A,G; T,T NA NA NA GCAATCCATCACCAAGATCAGCACAACAAATGACAGTTTTGGCTTCCGTGTTTTGTGGGGGTTTCTCATTCTGGATGACTTCTTAATGTCCACTTCAGTTGTATTTACACATCCAGGAAGGGAATGGAAAAACAGAGAGACAAATGAATCTTTGGGTGTGAAATTTCTGA 240827055 240827225 NA NA NA NA NA NA TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCTTCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGCCAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC TCAGAAATTTCACACCCAAAGATTCATTTGTCTCTCTGTTTTTCCATTCCCAGCCTGGATGTGTAAATACAACTGAAGTGGACATTAAGAAGTCATCCAGAATGAGAAACCCCCACAAAACACGGAAGGTAAAACTGTCATTTGTTGTGCTGATCTTGGTGATGGATTGC control 84 21 0 0 0 NA NA NA NA NA 0.9987019584709 0.996102537175965 0.852498569202386 0.977449584970694 -0.9987019584709 -0.996102537175965 NA NA 0.997402247823433 0.91497407708654 -0.997402247823433 NA NA NA TRUE NA NA NA NA NA RGS7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS7 NA NA NA ENSG00000182901 ENSE00001316483 NA NA NA NA NA NA NA 0.781745872893189 FALSE NA ENSE00001316612_000 ENSE00001316612 000 22 31662923 31663092 + 47 87 36 NA NA NA NA NA TGACACCAACCTCCCGGGCCCCCTCCATCTTCTTACCTCAGTCAGAAAAGTTTTCTGGGTCTCCTCATCACATCGAATTAACTCTTTCATGACCATCACTTTGCCCGTGGCTTTGTGTGTCACCTACAGGGAGGGTGACTGTTAATGGTGCTGAGACCAGAGGAAGTTCT 31266936 31267106 NA NA NA NA NA NA AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGAAGATGGAGGGGGCCCGGGAGGTTGGTGTCA AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGAAGATGGAGGGGGCCCGGGAGGTTGGTGTCA natural 365 482 0.811521176124201 0.813477210014133 0.812499193069167 1386 1325 0.726287414683234 0.819425550462639 0.772856482572937 0.811521176124201 0.813477210014133 0.726287414683234 0.819425550462639 0 0 0 0 0.812499193069167 0.772856482572937 0 0 0 FALSE FALSE NA NA NA NA NA LIMK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIMK2 NA NA NA ENSG00000182541 ENSE00001316612 NA NA NA NA NA NA NA 0.00844040082440469 FALSE NA ENSE00001316612_010 ENSE00001316612 010 22 31662923 31663092 + 47 87 36 A G 31663062 534 140 TGACACCAACCTCCCGGGCCCCCTCCATCTCCTTACCTCAGTCAGAAAAGTTTTCTGGGTCTCCTCATCACATCGAATTAACTCTTTCATGACCATCACTTTGCCCGTGGCTTTGTGTGTCACCTACAGGGAGGGTGACTGTTAATGGTGCTGAGACCAGAGGAAGTTCT 31266936 31267106 31267075 31267076 31267076 downstr_intron 6 1.17142857142857 AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGGAGATGGAGGGGGCCCGGGAGGTTGGTGTCA AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGAAGATGGAGGGGGCCCGGGAGGTTGGTGTCA mutant NA NA NA NA NA 80 702 0.919298837629711 0.945955776039412 0.932627306834561 0.811521176124201 0.813477210014133 0.726287414683234 0.819425550462639 NA NA 0.193011422946477 0.126530225576772 0.812499193069167 0.772856482572937 NA 0.159770824261624 NA FALSE NA 0.964 0.71 . splice_region_variant&intron_variant LOW LIMK2 HGNC 6614 ENST00000333611 8/14 1 NA GAA .,G 1.649e-05 22:31267076 LIMK2 HGNC Symbol protein_coding 67841 ENSG00000182541 ENSE00001316612 splice_region_variant 0.583658 0.2069 0.13328 0.156188 0.521713548920861 0.381889 0.00844040082440469 FALSE 2.22616e-05 ENSE00001316612_011 ENSE00001316612 011 22 31662923 31663092 + 47 87 36 T C 31663066 535 144 TGACACCAACCTCCCGGGCCCCCTCCGTCTTCTTACCTCAGTCAGAAAAGTTTTCTGGGTCTCCTCATCACATCGAATTAACTCTTTCATGACCATCACTTTGCCCGTGGCTTTGTGTGTCACCTACAGGGAGGGTGACTGTTAATGGTGCTGAGACCAGAGGAAGTTCT 31266936 31267106 31267079 31267080 31267080 downstr_intron 10 1.28571428571429 AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGAAGACGGAGGGGGCCCGGGAGGTTGGTGTCA AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGAAGATGGAGGGGGCCCGGGAGGTTGGTGTCA mutant NA NA NA NA NA 125 51 0.8 0.8 0.8 0.811521176124201 0.813477210014133 0.726287414683234 0.819425550462639 NA NA 0.0737125853167656 -0.0194255504626394 0.812499193069167 0.772856482572937 NA 0.0271435174270631 NA FALSE NA 0 1.124 rs9606828 intron_variant MODIFIER LIMK2 HGNC 6614 ENST00000333611 8/14 rs9606828 1 C:0.0164 C:0.0023 C:0.0274 NA C:0 C:0.0388 C:0.0215 C:0.0109 C:0.0502 ATG .,C 0.036 22:31267080 LIMK2 HGNC Symbol protein_coding 67841 ENSG00000182541 ENSE00001316612 intron_variant 0.536738 0.23925 0.00857 0.099367 0.646576850068473 0.11614 0.00844040082440469 FALSE 0.0376064 ENSE00001316612_012 ENSE00001316612 012 22 31662923 31663092 + 47 87 36 C T 31663077 536 155 TGACACCAACCTCCCAGGCCCCCTCCATCTTCTTACCTCAGTCAGAAAAGTTTTCTGGGTCTCCTCATCACATCGAATTAACTCTTTCATGACCATCACTTTGCCCGTGGCTTTGTGTGTCACCTACAGGGAGGGTGACTGTTAATGGTGCTGAGACCAGAGGAAGTTCT 31266936 31267106 31267090 31267091 31267091 downstr_intron 21 1.6 AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGAAGATGGAGGGGGCCTGGGAGGTTGGTGTCA AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGAAGATGGAGGGGGCCCGGGAGGTTGGTGTCA mutant NA NA NA NA NA 498 31 0.79572754761737 0.952097844345385 0.873912695981377 0.811521176124201 0.813477210014133 0.726287414683234 0.819425550462639 NA NA 0.0694401329341351 0.132672293882746 0.812499193069167 0.772856482572937 NA 0.10105621340844 NA FALSE NA 0 -0.338 . intron_variant MODIFIER LIMK2 HGNC 6614 ENST00000333611 8/14 1 NA CCG .,T 1.653e-05 22:31267091 LIMK2 HGNC Symbol protein_coding 67841 ENSG00000182541 ENSE00001316612 intron_variant -0.097388 0.08109 0.00247 0.099367 0.445655661444022 0.0870264 0.00844040082440469 FALSE 1.47145e-05 ENSE00001316612_BRK ENSE00001316612 BRK 22 31662923 31663092 + 47 87 36 A,G; T,T NA NA NA TGACACCAACCTCCCGGGCCCCCTCCATCTTCTTGGCTCAGTCAGAAAAGTTTTCTGGGTCTCCTCATCACATCGAATTAACTCTTTCATGACCATCACTTTGCCCGTGGCTTTGTGTGTCACAAACAGGGAGGGTGACTGTTAATGGTGCTGAGACCAGAGGAAGTTCT 31266936 31267106 NA NA NA NA NA NA AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTTTGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGCCAAGAAGATGGAGGGGGCCCGGGAGGTTGGTGTCA AGAACTTCCTCTGGTCTCAGCACCATTAACAGTCACCCTCCCTGTAGGTGACACACAAAGCCACGGGCAAAGTGATGGTCATGAAAGAGTTAATTCGATGTGATGAGGAGACCCAGAAAACTTTTCTGACTGAGGTAAGAAGATGGAGGGGGCCCGGGAGGTTGGTGTCA control 24 21 0 0 0 NA NA NA NA NA 0.811521176124201 0.813477210014133 0.726287414683234 0.819425550462639 -0.811521176124201 -0.813477210014133 NA NA 0.812499193069167 0.772856482572937 -0.812499193069167 NA NA NA TRUE NA NA NA NA NA LIMK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIMK2 NA NA NA ENSG00000182541 ENSE00001316612 NA NA NA NA NA NA NA 0.00844040082440469 FALSE NA ENSE00001316627_000 ENSE00001316627 000 15 89857801 89857970 + 42 96 32 NA NA NA NA NA CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 NA NA NA NA NA NA CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC natural 81 64 0.994950665726521 0.995462706194319 0.99520668596042 2527 2179 0.995037691077904 0.92982897791245 0.962433334495177 0.994950665726521 0.995462706194319 0.995037691077904 0.92982897791245 0 0 0 0 0.99520668596042 0.962433334495177 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003532827 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001316627_006 ENSE00001316627 006 15 89857801 89857970 + 42 96 32 T C 89857833 2415 33 CCATTGAACCTGAAATTTAAGTCTTATGTTCTCTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314601 89314602 89314602 upstr_intron -10 -0.214285714285714 CCATTGAACCTGAAATTTAAGTCTTATGTTCTCTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant 13 30 0.85 0.85 0.85 2886 311 0.826371110052748 0.921250071873059 0.873810590962903 0.994950665726521 0.995462706194319 0.995037691077904 0.92982897791245 -0.144950665726521 -0.145462706194319 -0.168666581025156 -0.00857890603939071 0.99520668596042 0.962433334495177 -0.14520668596042 -0.0886227435322731 0.0565839424281466 FALSE FALSE 0.001 1.051 NA NA NA POLG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLG NA NA NA ENSG00000140521 ENSE00003532827 intron_variant 2.27212 0.27789 0.11755 0.256867 0.899693951631353 0.351679 4.12449812767026e-05 FALSE 4.06253e-06 ENSE00001316627_BRK ENSE00001316627 BRK 15 89857801 89857970 + 42 96 32 A,G; T,T NA NA NA CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTTTGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGCCAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 NA NA NA NA NA NA CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTTTGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGCCAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC control 75 34 0 0 0 145 936 0 0.00447759522696994 0.00223879761348497 0.994950665726521 0.995462706194319 0.995037691077904 0.92982897791245 -0.994950665726521 -0.995462706194319 -0.995037691077904 -0.92535138268548 0.99520668596042 0.962433334495177 -0.99520668596042 -0.960194536881692 0.0350121490787278 TRUE TRUE NA NA NA NA NA POLG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLG NA NA NA ENSG00000140521 ENSE00003532827 NA NA NA NA NA NA NA 4.12449812767026e-05 FALSE NA ENSE00001316750_000 ENSE00001316750 000 1 156513900 156514069 - 44 72 54 NA NA NA NA NA CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 NA NA NA NA NA NA CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC natural NA NA NA NA NA 1541 1715 0.985691736042338 0.980484981218399 0.983088358630368 NA NA 0.985691736042338 0.980484981218399 NA NA 0 0 NA 0.983088358630368 NA 0 NA FALSE NA NA NA NA NA NA IQGAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IQGAP3 NA NA NA ENSG00000183856 ENSE00001316750 NA NA NA NA NA NA NA 6.47051186060707e-16 FALSE NA ENSE00001316750_001 ENSE00001316750 001 1 156513900 156514069 - 44 72 54 G A 156513910 3753 160 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACTCAACCTTTGC 156544107 156544277 156544117 156544118 156544118 downstr_intron 34 1.7906976744186 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACTCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 261 728 0.992345370786485 0.989800213552774 0.99107279216963 NA NA 0.985691736042338 0.980484981218399 NA NA 0.00665363474414793 0.0093152323343757 NA 0.983088358630368 NA 0.00798443353926181 NA FALSE NA 0.004 0.929 rs16837464 intron_variant&NMD_transcript_variant MODIFIER IQGAP3 HGNC 20669 ENST00000491900 20/37 rs16837464 1 A:0.0246 A:0.087 A:0.0115 NA A:0 A:0 A:0 A:0.0683 A:0.0006 GGG G,A 0.006902 1:156544118 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 intron_variant 0.396165 0.22112 0.04451 0.162113 0.716295975383147 0.0931705 6.47051186060707e-16 FALSE 0.00524298 ENSE00001316750_002 ENSE00001316750 002 1 156513900 156514069 - 44 72 54 G A 156513911 3754 159 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATATCCAACCTTTGC 156544107 156544277 156544118 156544119 156544119 downstr_intron 33 1.76744186046512 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATATCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 2799 324 0.963393891728484 0.794932637544981 0.879163264636732 NA NA 0.985691736042338 0.980484981218399 NA NA -0.0222978443138532 -0.185552343673418 NA 0.983088358630368 NA -0.103925093993636 NA FALSE NA 0 -1.53 . intron_variant&NMD_transcript_variant MODIFIER IQGAP3 HGNC 20669 ENST00000491900 20/37 1 NA GGT G,A 3.295e-05 1:156544119 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 intron_variant 0.236748 0.20185 0.01936 0.162113 0.689396493396112 0.0931705 6.47051186060707e-16 FALSE 3.24889e-05 ENSE00001316750_003 ENSE00001316750 003 1 156513900 156514069 - 44 72 54 A G 156513913 3755 157 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACACACCCAACCTTTGC 156544107 156544277 156544120 156544121 156544121 downstr_intron 31 1.72093023255814 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACACACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 199 628 0.999377939987413 0.999939377181722 0.999658658584567 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0136862039450752 0.0194543959633232 NA 0.983088358630368 NA 0.0165702999541992 NA FALSE NA 0 -0.83 . intron_variant&NMD_transcript_variant MODIFIER IQGAP3 HGNC 20669 ENST00000491900 20/37 rs544959992 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TAT A,G 3.295e-05 1:156544121 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 intron_variant 1.341028 0.22107 0.01989 0.162113 0.7835910104407 0.141989 6.47051186060707e-16 FALSE 2.43671e-05 ENSE00001316750_004 ENSE00001316750 004 1 156513900 156514069 - 44 72 54 T C 156513914 3756 156 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACGTACCCAACCTTTGC 156544107 156544277 156544121 156544122 156544122 downstr_intron 30 1.69767441860465 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACGTACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 938 410 0.997246235982294 1 0.998623117991147 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0115544999399563 0.0195150187816012 NA 0.983088358630368 NA 0.0155347593607787 NA FALSE NA 0 -3.106 . intron_variant&NMD_transcript_variant MODIFIER IQGAP3 HGNC 20669 ENST00000491900 20/37 1 NA ATG T,C 1.647e-05 1:156544122 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 intron_variant 1.276499 0.15017 0.03306 0.162113 0.698033660791701 0.0931705 6.47051186060707e-16 FALSE 2.03059e-05 ENSE00001316750_005 ENSE00001316750 005 1 156513900 156514069 - 44 72 54 G C 156513923 3757 147 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCGCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544130 156544131 156544131 downstr_intron 21 1.48837209302326 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCGCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 574 310 0.816922937073534 0.95408963317635 0.885506285124942 NA NA 0.985691736042338 0.980484981218399 NA NA -0.168768798968803 -0.026395348042049 NA 0.983088358630368 NA -0.097582073505426 NA FALSE NA 0 0.041 . intron_variant&NMD_transcript_variant MODIFIER IQGAP3 HGNC 20669 ENST00000491900 20/37 1 NA GGG G,C 8.236e-06 1:156544131 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 intron_variant 0.225156 0.24116 0.08296 0.162113 0.684344008600921 0.0931705 6.47051186060707e-16 FALSE 1.21834e-05 ENSE00001316750_007 ENSE00001316750 007 1 156513900 156514069 - 44 72 54 A G 156513928 3759 142 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGCTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544135 156544136 156544136 downstr_intron 16 1.37209302325581 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGCTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 1019 680 0.99991920010538 0.990386491359734 0.995152845732557 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0142274640630421 0.00990151014133567 NA 0.983088358630368 NA 0.0120644871021889 NA FALSE NA 0 0.778 NA NA NA IQGAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:156544136 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 intron_variant 0.231578 0.08184 0.00183 0.162113 0.629416762792156 0.0931705 6.47051186060707e-16 FALSE 8.12196e-06 ENSE00001316750_008 ENSE00001316750 008 1 156513900 156514069 - 44 72 54 T C 156513940 3760 130 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGGGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544147 156544148 156544148 downstr_intron 4 1.09302325581395 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGGGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 1375 919 0.00797974449531069 0.000348104032538706 0.0041639242639247 NA NA 0.985691736042338 0.980484981218399 NA NA -0.977711991547027 -0.98013687718586 NA 0.983088358630368 NA -0.978924434366443 NA TRUE NA 1 6.112 . splice_region_variant&intron_variant&NMD_transcript_variant LOW IQGAP3 HGNC 20669 ENST00000491900 20/37 rs563068013 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTC T,C 5.765e-05 1:156544148 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 splice_region_variant 1.271628 0.99434 0.9928 0.162113 0.9493657326925 0.96604 6.47051186060707e-16 FALSE 4.06134e-05 ENSE00001316750_009 ENSE00001316750 009 1 156513900 156514069 - 44 72 54 A G 156513944 3761 126 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAACGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544151 156544152 156544152 exon -1 1 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAACGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 176 1116 1 0.99972159279709 0.999860796398545 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0143082639576625 0.0192366115786908 NA 0.983088358630368 NA 0.0167724377681767 NA FALSE NA 0 -1.542 . splice_region_variant&synonymous_variant&NMD_transcript_variant LOW IQGAP3 HGNC 20669 ENST00000491900 20/38 1 NA CAT A,G 8.236e-06 1:156544152 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 splice_region_variant -0.141851 0.86185 0.08301 0.706548 0.675221961122979 0 6.47051186060707e-16 FALSE 4.06098e-06 ENSE00001316750_010 ENSE00001316750 010 1 156513900 156514069 - 44 72 54 G A 156513959 3762 111 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCATTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544166 156544167 156544167 exon -16 0.791666666666667 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCATTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 123 1757 0.877224875975841 0.989789971977788 0.933507423976815 NA NA 0.985691736042338 0.980484981218399 NA NA -0.108466860066497 0.0093049907593894 NA 0.983088358630368 NA -0.0495809346535536 NA FALSE NA 0 -0.161 . synonymous_variant&NMD_transcript_variant LOW IQGAP3 HGNC 20669 ENST00000491900 20/38 1 NA AGT G,A 3.295e-05 1:156544167 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 synonymous_variant 0.312201 0.9693 0.35647 0.706548 0.656070831090056 0 6.47051186060707e-16 FALSE 1.21832e-05 ENSE00001316750_011 ENSE00001316750 011 1 156513900 156514069 - 44 72 54 T C 156513960 3763 110 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCGCTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544167 156544168 156544168 exon -17 0.777777777777778 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCGCTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 524 1254 0.920645388764807 1 0.960322694382403 NA NA 0.985691736042338 0.980484981218399 NA NA -0.0650463472775307 0.0195150187816012 NA 0.983088358630368 NA -0.0227656642479647 NA FALSE NA 0 -0.493 . missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 1 tolerated(0.49) benign(0) NA GTG T,C 8.236e-06 1:156544168 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 1.133048 0.96038 0.04919 0.706548 0.919088551973211 0 6.47051186060707e-16 FALSE 1.21832e-05 ENSE00001316750_012 ENSE00001316750 012 1 156513900 156514069 - 44 72 54 G A 156513961 3764 109 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGTACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544168 156544169 156544169 exon -18 0.763888888888889 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGTACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 955 297 0.998700002143424 1 0.999350001071712 NA NA 0.985691736042338 0.980484981218399 NA NA 0.013008266101087 0.0195150187816012 NA 0.983088358630368 NA 0.0162616424413441 NA FALSE NA 0.045 0.94 . missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 rs201097448 1 deleterious(0) benign(0.044) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGC G,A 2.471e-05 1:156544169 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 3.60842 0.97672 0.42957 0.706548 0.985674773158981 0 6.47051186060707e-16 FALSE 2.84282e-05 ENSE00001316750_013 ENSE00001316750 013 1 156513900 156514069 - 44 72 54 C T 156513966 3765 104 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCATCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544173 156544174 156544174 exon -23 0.694444444444444 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCATCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 2016 158 0.998115729093108 1 0.999057864546554 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0124239930507704 0.0195150187816012 NA 0.983088358630368 NA 0.0159695059161858 NA FALSE NA 1 7.653 . missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 rs542327665 1 deleterious(0) probably_damaging(0.999) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACG C,T 8.236e-06 1:156544174 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 8.122673 0.99557 0.99606 0.706548 0.999439490299134 0 6.47051186060707e-16 FALSE 3.24897e-05 ENSE00001316750_014 ENSE00001316750 014 1 156513900 156514069 - 44 72 54 G A 156513967 3766 103 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGTGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544174 156544175 156544175 exon -24 0.680555555555556 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGTGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 369 227 0.964671779422712 0.852630697230001 0.908651238326357 NA NA 0.985691736042338 0.980484981218399 NA NA -0.0210199566196255 -0.127854283988398 NA 0.983088358630368 NA -0.0744371203040116 NA FALSE NA 0.992 1.831 . missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 1 deleterious(0) probably_damaging(1) NA CGC G,A 1.647e-05 1:156544175 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 7.256539 0.97449 0.9481 0.706548 0.999221652837313 0 6.47051186060707e-16 FALSE 1.62444e-05 ENSE00001316750_015 ENSE00001316750 015 1 156513900 156514069 - 44 72 54 C T 156513968 3767 102 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGACGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544175 156544176 156544176 exon -25 0.666666666666667 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGACGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 187 148 1 1 1 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0143082639576625 0.0195150187816012 NA 0.983088358630368 NA 0.0169116413696319 NA FALSE NA 0 -1.03 . synonymous_variant&NMD_transcript_variant LOW IQGAP3 HGNC 20669 ENST00000491900 20/38 1 NA GCC C,T 8.236e-06 1:156544176 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 synonymous_variant 2.103169 0.96661 0.26419 0.706548 0.640575141024279 0 6.47051186060707e-16 FALSE 4.06105e-06 ENSE00001316750_016 ENSE00001316750 016 1 156513900 156514069 - 44 72 54 C T 156513971 3768 99 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTAAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544178 156544179 156544179 exon -28 0.625 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTAAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 869 333 0.989727298268093 0.997209131860348 0.99346821506422 NA NA 0.985691736042338 0.980484981218399 NA NA 0.00403556222575518 0.016724150641949 NA 0.983088358630368 NA 0.0103798564338521 NA FALSE NA 0 -0.316 . synonymous_variant&NMD_transcript_variant LOW IQGAP3 HGNC 20669 ENST00000491900 20/38 rs200820791&COSM1319897 1 NA TCA C,T 8.236e-06 1:156544179 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 synonymous_variant 1.63564 0.96779 0.35925 0.706548 0.742031984968854 0 6.47051186060707e-16 FALSE 5.68551e-05 ENSE00001316750_017 ENSE00001316750 017 1 156513900 156514069 - 44 72 54 C T 156513984 3769 86 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCAGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544191 156544192 156544192 exon 32 0.444444444444444 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCAGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 496 405 0.995776149499011 0.981429154991262 0.988602652245136 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0100844134566731 0.000944173772863377 NA 0.983088358630368 NA 0.00551429361476824 NA FALSE NA 0.529 2.563 rs147371313 missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 rs147371313&COSM3475303 1 deleterious(0.02) benign(0.107) NA T:0.0002 T:0 CCG C,T 7.413e-05 1:156544192 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 5.590483 0.97929 0.94541 0.706548 0.999368587639158 0 6.47051186060707e-16 FALSE 4.06121e-05 ENSE00001316750_018 ENSE00001316750 018 1 156513900 156514069 - 44 72 54 G A 156513985 3770 85 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTTGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544192 156544193 156544193 exon 31 0.430555555555556 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTTGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 313 1692 1 0.9923385440774 0.9961692720387 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0143082639576625 0.0118535628590013 NA 0.983088358630368 NA 0.0130809134083319 NA FALSE NA 0.528 1.745 . missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 1 deleterious(0) probably_damaging(0.913) NA CGA G,A 8.236e-06 1:156544193 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 7.47375 0.98265 0.9414 0.706548 0.999272441517311 0 6.47051186060707e-16 FALSE 4.06108e-06 ENSE00001316750_019 ENSE00001316750 019 1 156513900 156514069 - 44 72 54 G A 156513987 3771 83 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGTTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544194 156544195 156544195 exon 29 0.402777777777778 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGTTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 892 199 0.997759081946097 1 0.998879540973048 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0120673459037595 0.0195150187816012 NA 0.983088358630368 NA 0.0157911823426803 NA FALSE NA 1 9.661 rs141755583 missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 rs141755583 1 tolerated(0.1) probably_damaging(0.933) NA A:0.0002 A:0 AGC G,A 8.236e-06 1:156544195 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 6.969061 0.99585 0.99738 0.706548 0.999220267372131 0 6.47051186060707e-16 FALSE NA ENSE00001316750_022 ENSE00001316750 022 1 156513900 156514069 - 44 72 54 G A 156514000 3774 70 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCTGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544207 156544208 156544208 exon 16 0.222222222222222 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCTGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 2600 56 0.00904597717059081 0.0210804303475406 0.0150632037590657 NA NA 0.985691736042338 0.980484981218399 NA NA -0.976645758871747 -0.959404550870858 NA 0.983088358630368 NA -0.968025154871302 NA TRUE NA 0.994 2.5 . missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 COSM4023308 1 deleterious(0) probably_damaging(1) NA CGG G,A 8.236e-06 1:156544208 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 7.979052 0.98402 0.97265 0.706298 0.999167622440829 0 6.47051186060707e-16 FALSE 8.12361e-06 ENSE00001316750_023 ENSE00001316750 023 1 156513900 156514069 - 44 72 54 A T 156514006 3775 64 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCAGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544213 156544214 156544214 exon 10 0.138888888888889 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCAGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 601 214 1 1 1 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0143082639576625 0.0195150187816012 NA 0.983088358630368 NA 0.0169116413696319 NA FALSE NA 0 0.457 . missense_variant&NMD_transcript_variant MODERATE IQGAP3 HGNC 20669 ENST00000491900 20/38 1 deleterious(0.04) possibly_damaging(0.637) NA CAG A,T 1.647e-05 1:156544214 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 missense_variant 5.299636 0.82902 0.22804 0.732398 0.99321847769874 0 6.47051186060707e-16 FALSE 1.21851e-05 ENSE00001316750_024 ENSE00001316750 024 1 156513900 156514069 - 44 72 54 C G 156514016 3776 54 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCACATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544223 156544224 156544224 upstr_intron -1 0 CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCACATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant 21 58 0.823449789553965 0.85 0.836724894776983 NA NA NA NA NA NA NA 0.985691736042338 0.980484981218399 NA NA NA NA NA 0.983088358630368 NA NA NA NA NA 1 7.653 . splice_acceptor_variant&NMD_transcript_variant HIGH IQGAP3 HGNC 20669 ENST00000491900 19/37 1 NA TCT C,G 8.236e-06 1:156544224 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 splice_acceptor_variant 5.628947 0.99572 0.99802 0.262962 0.995202734976947 0.987592 6.47051186060707e-16 FALSE 4.06217e-06 ENSE00001316750_026 ENSE00001316750 026 1 156513900 156514069 - 44 72 54 T A 156514049 3778 21 CTGAGTGAGGGTGGGCCCCATGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544256 156544257 156544257 upstr_intron -34 -0.611111111111111 CTGAGTGAGGGTGGGCCCCATGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 3548 335 0.97448547477952 0.999070265534502 0.986777870157011 NA NA 0.985691736042338 0.980484981218399 NA NA -0.0112062612628178 0.0185852843161028 NA 0.983088358630368 NA 0.00368951152664254 NA FALSE NA 0 -0.3 . intron_variant&NMD_transcript_variant MODIFIER IQGAP3 HGNC 20669 ENST00000491900 19/37 1 NA CTT T,A 8.236e-06 1:156544257 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 intron_variant 0.401859 0.19582 0.02451 0.106106 0.781408994814553 0.1194 6.47051186060707e-16 FALSE 4.06342e-06 ENSE00001316750_027 ENSE00001316750 027 1 156513900 156514069 - 44 72 54 C A 156514055 3779 15 CTGAGTGAGGGTGGTCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 156544262 156544263 156544263 upstr_intron -40 -0.722222222222222 CTGAGTGAGGGTGGTCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC mutant NA NA NA NA NA 503 1401 0.999672276455306 0.99817676210234 0.998924519278823 NA NA 0.985691736042338 0.980484981218399 NA NA 0.0139805404129689 0.017691780883941 NA 0.983088358630368 NA 0.0158361606484549 NA FALSE NA 0.002 1.063 . intron_variant&NMD_transcript_variant MODIFIER IQGAP3 HGNC 20669 ENST00000491900 19/37 1 NA GCC C,A 1.647e-05 1:156544263 IQGAP3 HGNC Symbol protein_coding 47199 ENSG00000183856 ENSE00001316750 intron_variant 0.64228 0.19598 0.13065 0.106106 0.859060264785218 0.177681 6.47051186060707e-16 FALSE 2.03264e-05 ENSE00001316750_BRK ENSE00001316750 BRK 1 156513900 156514069 - 44 72 54 A,G; T,T NA NA NA CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCTTATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATCCGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC 156544107 156544277 NA NA NA NA NA NA CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCTTATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATCCGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC CTGAGTGAGGGTGGGCCCCAAGCTGGAGCTGAGGCAGTGTGTTTCTTCTCCCAGATCCAGGCCTGGGCCCGGATGTGGGCAGCTCGGAGGCAATACCTGAGGCGTCTGCACTACTTCCAGAAGAATGTGAGTGTCACCTTGTTCCCCCTGCCCACATACCCAACCTTTGC control NA NA NA NA NA 69 2476 0 0.00465192663813925 0.00232596331906963 NA NA 0.985691736042338 0.980484981218399 NA NA -0.985691736042338 -0.975833054580259 NA 0.983088358630368 NA -0.980762395311298 NA TRUE NA NA NA NA NA NA IQGAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IQGAP3 NA NA NA ENSG00000183856 ENSE00001316750 NA NA NA NA NA NA NA 6.47051186060707e-16 FALSE NA ENSE00001317011_000 ENSE00001317011 000 15 64056263 64056432 - 32 96 42 NA NA NA NA NA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 NA NA NA NA NA NA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA natural 119 146 0.646699664178593 0.842405032573744 0.744552348376169 2696 2211 0.922327030220039 0.799769891832989 0.861048461026514 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 0 0 0 0 0.744552348376169 0.861048461026514 0 0 0 FALSE FALSE NA NA NA NA NA HERC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HERC1 NA NA NA ENSG00000103657 ENSE00003528804 NA NA NA NA NA NA NA 0.999999999998371 TRUE NA ENSE00001317011_002 ENSE00001317011 002 15 64056263 64056432 - 32 96 42 T C 64056288 1293 145 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTGATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764088 63764089 63764089 downstr_intron 7 1.2258064516129 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTGATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant NA NA NA NA NA 266 194 0.981818207709574 0.96880038890588 0.975309298307727 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 NA NA 0.0594911774895346 0.169030497072891 0.744552348376169 0.861048461026514 NA 0.114260837281213 NA FALSE NA 0.907 2.413 . splice_region_variant&intron_variant LOW HERC1 HGNC 4867 ENST00000443617 3/77 1 NA TTA T,C 8.266e-06 15:63764089 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 splice_region_variant 0.867872 0.92761 0.70303 0 0.671444024616684 0.793773 0.999999999998371 TRUE 1.75088e-05 ENSE00001317011_003 ENSE00001317011 003 15 64056263 64056432 - 32 96 42 A G 64056289 1294 144 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGCAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764089 63764090 63764090 downstr_intron 6 1.19354838709677 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGCAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant NA NA NA NA NA 98 850 0.8 0.8 0.8 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 NA NA -0.122327030220039 0.000230108167010967 0.744552348376169 0.861048461026514 NA -0.0610484610265141 NA FALSE NA 1 3.655 . splice_region_variant&intron_variant LOW HERC1 HGNC 4867 ENST00000443617 3/77 rs369423885 1 NA G:0.0005 G:0 TAC A,G 4.133e-05 15:63764090 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 splice_region_variant 0.751487 0.93663 0.86062 0 0.758847675957989 0.792504 0.999999999998371 TRUE 3.49083e-05 ENSE00001317011_004 ENSE00001317011 004 15 64056263 64056432 - 32 96 42 G C 64056291 1295 142 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTAGGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764091 63764092 63764092 downstr_intron 4 1.12903225806452 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTAGGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant 313 344 0.85 0.85 0.85 NA NA NA NA NA 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 0.203300335821407 0.00759496742625554 NA NA 0.744552348376169 0.861048461026514 0.105447651623831 NA NA NA FALSE 0.297 0.058 rs150326607 splice_region_variant&intron_variant LOW HERC1 HGNC 4867 ENST00000443617 3/77 rs150326607 1 C:0.0010 C:0 C:0 NA C:0.005 C:0 C:0 CGT G,C 0.0004711 15:63764092 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 splice_region_variant -0.253696 0.75796 0.8012 0 0.619477545526015 0.35215 0.999999999998371 TRUE 0.000473575 ENSE00001317011_007 ENSE00001317011 007 15 64056263 64056432 - 32 96 42 A G 64056325 1298 108 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTCTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764125 63764126 63764126 exon -31 0.6875 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTCTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant 118 66 0.85 0.85 0.85 NA NA NA NA NA 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 0.203300335821407 0.00759496742625554 NA NA 0.744552348376169 0.861048461026514 0.105447651623831 NA NA NA FALSE 0.014 -0.771 . synonymous_variant LOW HERC1 HGNC 4867 ENST00000443617 3/78 rs199983480 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAA A,G 1.651e-05 15:63764126 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 synonymous_variant 0.390972 0.85688 0.16048 0.615465 0.660142465852483 0 0.999999999998371 TRUE 8.31532e-06 ENSE00001317011_008 ENSE00001317011 008 15 64056263 64056432 - 32 96 42 A G 64056340 1299 93 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGACGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764140 63764141 63764141 exon -46 0.53125 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGACGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant NA NA NA NA NA 910 1856 0.997886330401798 0.99259472250257 0.995240526452184 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 NA NA 0.0755593001817584 0.192824830669581 0.744552348376169 0.861048461026514 NA 0.13419206542567 NA FALSE NA 0.997 0.624 . synonymous_variant LOW HERC1 HGNC 4867 ENST00000443617 3/78 1 NA CAT A,G 1.651e-05 15:63764141 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 synonymous_variant 0.674678 0.91559 0.87084 0.615465 0.607221847201947 0 0.999999999998371 TRUE 8.26016e-06 ENSE00001317011_015 ENSE00001317011 015 15 64056263 64056432 - 32 96 42 G T 64056375 1306 58 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATAGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764175 63764176 63764176 exon 16 0.166666666666667 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATAGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant NA NA NA NA NA 11 63 1 0.8 0.9 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 NA NA 0.0776729697799609 0.000230108167010967 0.744552348376169 0.861048461026514 NA 0.0389515389734859 NA FALSE NA 1 7.526 . synonymous_variant LOW HERC1 HGNC 4867 ENST00000443617 3/78 COSM963887&COSM963885 1 NA CGA G,T 8.259e-06 15:63764176 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 synonymous_variant 1.417778 0.99051 0.98947 0.75658 0.689261855902147 0 0.999999999998371 TRUE NA ENSE00001317011_018 ENSE00001317011 018 15 64056263 64056432 - 32 96 42 A G 64056400 1309 33 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTCTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764200 63764201 63764201 upstr_intron -10 -0.214285714285714 TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTCTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant NA NA NA NA NA 333 45 0.928530299201977 0.963141341837875 0.945835820519926 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 NA NA 0.00620326898193768 0.163371450004886 0.744552348376169 0.861048461026514 NA 0.0847873594934119 NA FALSE NA 1 6.2 . intron_variant MODIFIER HERC1 HGNC 4867 ENST00000443617 2/77 1 NA AAA A,G 8.264e-06 15:63764201 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 intron_variant 2.48231 0.97769 0.97153 0.084569 0.719508193069297 0.511539 0.999999999998371 TRUE NA ENSE00001317011_024 ENSE00001317011 024 15 64056263 64056432 - 32 96 42 C T 64056418 1315 15 TCTCCCCTTCCTACACTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764218 63764219 63764219 upstr_intron -28 -0.642857142857143 TCTCCCCTTCCTACACTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant NA NA NA NA NA 24 273 0.89466917784476 1 0.94733458892238 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 NA NA -0.0276578523752795 0.200230108167011 0.744552348376169 0.861048461026514 NA 0.0862861278958657 NA FALSE NA 0 0.269 . intron_variant MODIFIER HERC1 HGNC 4867 ENST00000443617 2/77 1 NA GCG T,T 8.286e-06 15:63764219 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 intron_variant 0.292617 0.11202 0.00128 0.057505 0.604269680686298 0.168993 0.999999999998371 TRUE NA ENSE00001317011_025 ENSE00001317011 025 15 64056263 64056432 - 32 96 42 G A 64056419 1316 14 TCTCCCCTTCCTATGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 63764219 63764220 63764220 upstr_intron -29 -0.666666666666667 TCTCCCCTTCCTATGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA mutant NA NA NA NA NA 379 1528 0.9973981050652 0.970267340659528 0.983832722862364 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 NA NA 0.0750710748451612 0.170497448826539 0.744552348376169 0.861048461026514 NA 0.12278426183585 NA FALSE NA 0 0.385 . intron_variant MODIFIER HERC1 HGNC 4867 ENST00000443617 2/77 rs373601092 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 4.146e-05 15:63764220 HERC1 HGNC Symbol protein_coding 225324 ENSG00000103657 ENSE00003528804 intron_variant 0.042843 0.20416 0.0142 0.057505 0.607624734145916 0.168993 0.999999999998371 TRUE NA ENSE00001317011_BRK ENSE00001317011 BRK 15 64056263 64056432 - 32 96 42 A,G; T,T NA NA NA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATTTGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGCCACGTAATAATCGTGGCTTTTGTATTAACAA 63764063 63764233 NA NA NA NA NA NA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATTTGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGCCACGTAATAATCGTGGCTTTTGTATTAACAA TCTCCCCTTCCTACGCTGTGTCCCGCAATGTTTTAATTATAGGGTTCATCTGCTGATCGGAGTCAGTGGAGAGAACCAACCAGAACATCGGATGGCTTGTGCTCCCTTTACGAGGCAGCATTATGTCTCTTTGAAGAGGTACGTAATAATCGTGGCTTTTGTATTAACAA control 159 52 0 0 0 NA NA NA NA NA 0.646699664178593 0.842405032573744 0.922327030220039 0.799769891832989 -0.646699664178593 -0.842405032573744 NA NA 0.744552348376169 0.861048461026514 -0.744552348376169 NA NA NA TRUE NA NA NA NA NA HERC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HERC1 NA NA NA ENSG00000103657 ENSE00003528804 NA NA NA NA NA NA NA 0.999999999998371 TRUE NA ENSE00001317114_000 ENSE00001317114 000 17 29281445 29281614 + 51 78 41 NA NA NA NA NA GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCTCATGGCAATCCAGGGCGAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 NA NA NA NA NA NA TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC natural NA NA NA NA NA 432 715 0.987131828157048 0.989625356515837 0.988378592336442 NA NA 0.987131828157048 0.989625356515837 NA NA 0 0 NA 0.988378592336442 NA 0 NA FALSE NA NA NA NA NA NA ADAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAP2 NA NA NA ENSG00000184060 ENSE00003470277 NA NA NA NA NA NA NA 3.98271958834599e-05 FALSE NA ENSE00001317114_003 ENSE00001317114 003 17 29281445 29281614 + 51 78 41 C T 29281487 1313 43 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCTCATGGCAATCCAGGGCGAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAAAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954468 30954469 30954469 upstr_intron -9 -0.156862745098039 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTTTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant NA NA NA NA NA 75 72 0.926391581749876 0.806211192941433 0.866301387345655 NA NA 0.987131828157048 0.989625356515837 NA NA -0.0607402464071712 -0.183414163574404 NA 0.988378592336442 NA -0.122077204990787 NA FALSE NA 0.109 -0.615 . intron_variant MODIFIER ADAP2 HGNC 16487 ENST00000581285 7/8 1 NA TCT C,T 8.236e-06 17:30954469 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 non_coding_transcript_exon_variant 2.87084 0.95978 0.1231 0.074898 0.725123900905382 0.451481 3.98271958834599e-05 FALSE 4.06088e-06 ENSE00001317114_005 ENSE00001317114 005 17 29281445 29281614 + 51 78 41 C G 29281496 1315 52 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCTCATGGCAATCCAGGGCGAACCACCTTTTCTTGAAAGGTTCTTTCTCCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954477 30954478 30954478 exon 1 0.0128205128205128 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGGAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant NA NA NA NA NA 501 134 0.9961009913315 1 0.99805049566575 NA NA 0.987131828157048 0.989625356515837 NA NA 0.00896916317445284 0.0103746434841634 NA 0.988378592336442 NA 0.00967190332930812 NA FALSE NA 1 7.128 . missense_variant&splice_region_variant MODERATE ADAP2 HGNC 16487 ENST00000581285 8/9 1 deleterious(0.03) benign(0.389) NA GCA C,G 6.589e-05 17:30954478 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 missense_variant 2.862651 0.99409 0.9855 0.554377 0.963623528838444 0 3.98271958834599e-05 FALSE 0.000121825 ENSE00001317114_007 ENSE00001317114 007 17 29281445 29281614 + 51 78 41 G A 29281519 1317 75 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCTCATGGCAATCCAGGGCGAACCATCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954500 30954501 30954501 exon 24 0.307692307692308 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGATGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant NA NA NA NA NA 1616 218 0.999156570599434 1 0.999578285299717 NA NA 0.987131828157048 0.989625356515837 NA NA 0.0120247424423865 0.0103746434841634 NA 0.988378592336442 NA 0.0111996929632749 NA FALSE NA 0.998 0.393 . synonymous_variant LOW ADAP2 HGNC 16487 ENST00000581285 8/9 1 NA GGT G,A 1.647e-05 17:30954501 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 synonymous_variant 1.579601 0.96678 0.7394 0.554377 0.78943705651856 0 3.98271958834599e-05 FALSE 4.06072e-05 ENSE00001317114_008 ENSE00001317114 008 17 29281445 29281614 + 51 78 41 C T 29281525 1318 81 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCTCATGGCAATCCAGGGCAAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954506 30954507 30954507 exon 30 0.384615384615385 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTTGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant 28 29 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.987131828157048 0.989625356515837 NA NA NA NA NA 0.988378592336442 NA NA NA NA NA 0.723 -0.683 rs2232279 synonymous_variant LOW ADAP2 HGNC 16487 ENST00000581285 8/9 rs2232279 1 T:0.0008 T:0 T:0 NA T:0.003 T:0 T:0.001 T:0 T:0.0001 TCG C,T 0.0005354 17:30954507 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 synonymous_variant 2.293622 0.92902 0.02554 0.554377 0.799458107917337 0 3.98271958834599e-05 FALSE 0.000511663 ENSE00001317114_009 ENSE00001317114 009 17 29281445 29281614 + 51 78 41 G A 29281526 1319 82 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCTCATGGCAATCCAGGGTGAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954507 30954508 30954508 exon 31 0.397435897435897 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCACCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant NA NA NA NA NA 739 70 0.95960844903546 0.974728252547298 0.967168350791379 NA NA 0.987131828157048 0.989625356515837 NA NA -0.0275233791215876 -0.0148971039685386 NA 0.988378592336442 NA -0.0212102415450631 NA FALSE NA 0.962 3.759 . missense_variant MODERATE ADAP2 HGNC 16487 ENST00000581285 8/9 rs201799866&COSM4065304 1 tolerated(1) benign(0.013) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGC G,A 5.765e-05 17:30954508 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 missense_variant 2.363644 0.97443 0.38058 0.554377 0.924950031690317 0 3.98271958834599e-05 FALSE 4.46682e-05 ENSE00001317114_011 ENSE00001317114 011 17 29281445 29281614 + 51 78 41 A G 29281542 1321 98 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCCCATGGCAATCCAGGGCGAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954523 30954524 30954524 exon -32 0.602564102564103 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGGGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant NA NA NA NA NA 850 277 0.0470896083001777 0.00115665357486293 0.0241231309375203 NA NA 0.987131828157048 0.989625356515837 NA NA -0.94004221985687 -0.988468702940974 NA 0.988378592336442 NA -0.964255461398922 NA TRUE NA 1 6.362 . missense_variant MODERATE ADAP2 HGNC 16487 ENST00000581285 8/9 1 deleterious(0.01) probably_damaging(0.987) NA GAG A,G 8.236e-06 17:30954524 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 missense_variant 5.240415 0.98665 0.96993 0.554377 0.980896674893764 0 3.98271958834599e-05 FALSE 4.06058e-06 ENSE00001317114_012 ENSE00001317114 012 17 29281445 29281614 + 51 78 41 C T 29281544 1322 100 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCACTCATGGCAATCCAGGGCGAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954525 30954526 30954526 exon -30 0.628205128205128 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGTGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant NA NA NA NA NA 60 27 1 0.994096785950036 0.997048392975018 NA NA 0.987131828157048 0.989625356515837 NA NA 0.0128681718429524 0.00447142943419987 NA 0.988378592336442 NA 0.00866980063857614 NA FALSE NA 1 2.9 . missense_variant MODERATE ADAP2 HGNC 16487 ENST00000581285 8/9 1 deleterious(0) probably_damaging(1) NA GCG C,T 1.647e-05 17:30954526 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 missense_variant 7.830658 0.97917 0.86153 0.554377 0.972172259753368 0 3.98271958834599e-05 FALSE 2.03041e-05 ENSE00001317114_013 ENSE00001317114 013 17 29281445 29281614 + 51 78 41 G A 29281545 1323 101 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCTGCTCATGGCAATCCAGGGCGAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954526 30954527 30954527 exon -29 0.641025641025641 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCAGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant 24 53 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.987131828157048 0.989625356515837 NA NA NA NA NA 0.988378592336442 NA NA NA NA NA 1 8.996 . missense_variant MODERATE ADAP2 HGNC 16487 ENST00000581285 8/9 1 deleterious(0) probably_damaging(0.999) NA CGG G,A 8.236e-06 17:30954527 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 missense_variant 7.749962 0.99385 0.98783 0.554377 0.991873889016994 0 3.98271958834599e-05 FALSE 8.12143e-06 ENSE00001317114_018 ENSE00001317114 018 17 29281445 29281614 + 51 78 41 G A 29281578 1328 134 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGGCTTTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCTCATGGCAATCCAGGGCGAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954559 30954560 30954560 downstr_intron 5 1.125 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAAAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant 580 747 0.846210544763067 0.85 0.848105272381533 225 80 0.0137049623996382 0.00635639358030073 0.0100306779899695 NA NA 0.987131828157048 0.989625356515837 NA NA -0.973426865757409 -0.983268962935536 NA 0.988378592336442 NA -0.978347914346473 NA TRUE NA 1 4.337 . splice_region_variant&intron_variant LOW ADAP2 HGNC 16487 ENST00000581285 8/8 rs201617793 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGA G,A 6.589e-05 17:30954560 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 splice_region_variant 1.505556 0.97921 0.67025 0.074388 0.883208228786288 0.513612 3.98271958834599e-05 FALSE 4.06118e-05 ENSE00001317114_019 ENSE00001317114 019 17 29281445 29281614 + 51 78 41 C A 29281581 1329 137 GTTTGAGGAAGCCCTGGGGAGGGAGCAGGAGTGTCTCTTACCAGTGGGTTCTTGTAATAGAGCAGCCTCCGCTCATGGCAATCCAGGGCGAACCACCTTTTCTTGAAAGGTTCTTTCTGCTGCAAAAGAGGGAACTTCTTACCACAGATGACCAGGTCAGTTTCTGAGGA 30954426 30954596 30954562 30954563 30954563 downstr_intron 8 1.2 TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGACACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC TCCTCAGAAACTGACCTGGTCATCTGTGGTAAGAAGTTCCCTCTTTTGCAGCAGAAAGAACCTTTCAAGAAAAGGTGGTTCGCCCTGGATTGCCATGAGCGGAGGCTGCTCTATTACAAGAACCCACTGGTAAGAGCCACTCCTGCTCCCTCCCCAGGGCTTCCTCAAAC mutant NA NA NA NA NA 161 151 0.996628905026631 1 0.998314452513315 NA NA 0.987131828157048 0.989625356515837 NA NA 0.00949707686958301 0.0103746434841634 NA 0.988378592336442 NA 0.0099358601768732 NA FALSE NA 0 -0.857 . splice_region_variant&intron_variant LOW ADAP2 HGNC 16487 ENST00000581285 8/8 1 NA GCC C,A 1.647e-05 17:30954563 ADAP2 HGNC Symbol protein_coding 52978 ENSG00000184060 ENSE00003470277 splice_region_variant 1.052356 0.21207 0.02614 0.074388 0.749816228079553 0.255451 3.98271958834599e-05 FALSE 1.21848e-05 ENSE00001317856_000 ENSE00001317856 000 1 7527836 7528005 + 54 72 44 NA NA NA NA NA TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG 7467775 7467945 NA NA NA NA NA NA TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG natural NA NA NA NA NA 1160 299 0.911303444033945 0.953230807158172 0.932267125596059 NA NA 0.911303444033945 0.953230807158172 NA NA 0 0 NA 0.932267125596059 NA 0 NA FALSE NA NA NA NA NA NA CAMTA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMTA1 NA NA NA ENSG00000171735 ENSE00001317856 NA NA NA NA NA NA NA 0.999999955418418 TRUE NA ENSE00001317856_002 ENSE00001317856 002 1 7527836 7528005 + 54 72 44 C T 7527849 104 14 TCCTTCCTTCCTTTCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG 7467775 7467945 7467788 7467789 7467789 upstr_intron -41 -0.740740740740741 TCCTTCCTTCCTTTCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG mutant NA NA NA NA NA 82 65 0.979819727823386 1 0.989909863911693 NA NA 0.911303444033945 0.953230807158172 NA NA 0.068516283789441 0.0467691928418285 NA 0.932267125596059 NA 0.0576427383156347 NA FALSE NA 1 1.63 . intron_variant MODIFIER CAMTA1 HGNC 18806 ENST00000303635 5/22 1 NA TCC C,T 8.236e-06 1:7467789 CAMTA1 HGNC Symbol protein_coding 984382 ENSG00000171735 ENSE00001317856 intron_variant 2.655441 0.96659 0.74137 0.056701 0.837920739509093 0.321766 0.999999955418418 TRUE 8.12361e-06 ENSE00001317856_004 ENSE00001317856 004 1 7527836 7528005 + 54 72 44 C T 7527870 106 35 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTTGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG 7467775 7467945 7467809 7467810 7467810 upstr_intron -20 -0.351851851851852 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTTGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG mutant NA NA NA NA NA 430 12 0.992429866703351 1 0.996214933351676 NA NA 0.911303444033945 0.953230807158172 NA NA 0.0811264226694056 0.0467691928418285 NA 0.932267125596059 NA 0.063947807755617 NA FALSE NA 1 1.417 . intron_variant MODIFIER CAMTA1 HGNC 18806 ENST00000303635 5/22 rs201698162 1 NA TCG C,T 2.471e-05 1:7467810 CAMTA1 HGNC Symbol protein_coding 984382 ENSG00000171735 ENSE00001317856 intron_variant 2.372536 0.96816 0.84138 0.056701 0.820618441171065 0.794909 0.999999955418418 TRUE 1.21823e-05 ENSE00001317856_005 ENSE00001317856 005 1 7527836 7528005 + 54 72 44 G A 7527871 107 36 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCATTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG 7467775 7467945 7467810 7467811 7467811 upstr_intron -19 -0.333333333333333 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCATTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG mutant NA NA NA NA NA 78 438 0.999471194690418 0.979835897862277 0.989653546276348 NA NA 0.911303444033945 0.953230807158172 NA NA 0.0881677506564729 0.0266050907041058 NA 0.932267125596059 NA 0.0573864206802893 NA FALSE NA 1 1.948 NA NA NA CAMTA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:7467811 CAMTA1 HGNC Symbol protein_coding 984382 ENSG00000171735 ENSE00001317856 intron_variant 2.387743 0.97833 0.8118 0.056701 0.818987536624312 0.794492 0.999999955418418 TRUE 5.27902e-05 ENSE00001317856_007 ENSE00001317856 007 1 7527836 7528005 + 54 72 44 C T 7527885 109 50 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCTCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG 7467775 7467945 7467824 7467825 7467825 upstr_intron -5 -0.0740740740740741 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCTCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG mutant NA NA NA NA NA 187 30 0.983502362781061 0.95 0.966751181390531 NA NA 0.911303444033945 0.953230807158172 NA NA 0.0721989187471156 -0.00323080715817148 NA 0.932267125596059 NA 0.0344840557944721 NA FALSE NA 1 2.703 . splice_region_variant&intron_variant LOW CAMTA1 HGNC 18806 ENST00000303635 5/22 1 NA CCC C,T 8.236e-06 1:7467825 CAMTA1 HGNC Symbol protein_coding 984382 ENSG00000171735 ENSE00001317856 splice_region_variant 2.283785 0.97555 0.71648 0.056701 0.91137192243747 0.9506 0.999999955418418 TRUE 4.06065e-06 ENSE00001317856_011 ENSE00001317856 011 1 7527836 7528005 + 54 72 44 C G 7527927 113 92 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCGCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG 7467775 7467945 7467866 7467867 7467867 exon -35 0.527777777777778 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCGCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG mutant NA NA NA NA NA 391 390 0.99862363657556 0.99960871678213 0.999116176678845 NA NA 0.911303444033945 0.953230807158172 NA NA 0.0873201925416146 0.0463779096239584 NA 0.932267125596059 NA 0.0668490510827865 NA FALSE NA 1 7.433 . missense_variant MODERATE CAMTA1 HGNC 18806 ENST00000303635 6/23 COSM1503746 1 deleterious(0) probably_damaging(0.995) NA CCC C,G 8.236e-06 1:7467867 CAMTA1 HGNC Symbol protein_coding 984382 ENSG00000171735 ENSE00001317856 missense_variant 6.224831 0.99164 0.97557 0.497415 0.998488533413606 0 0.999999955418418 TRUE 4.06114e-06 ENSE00001317856_012 ENSE00001317856 012 1 7527836 7528005 + 54 72 44 G A 7527991 114 156 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTATCTCTGGTGCTCGG 7467775 7467945 7467930 7467931 7467931 downstr_intron 30 1.69767441860465 TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTATCTCTGGTGCTCGG TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG mutant NA NA NA NA NA 189 635 0.989014799837863 0.983169212339925 0.986092006088894 NA NA 0.911303444033945 0.953230807158172 NA NA 0.0777113558039175 0.0299384051817535 NA 0.932267125596059 NA 0.0538248804928355 NA FALSE NA 0.009 2.407 . intron_variant MODIFIER CAMTA1 HGNC 18806 ENST00000303635 6/22 1 NA TGT G,A 8.236e-06 1:7467931 CAMTA1 HGNC Symbol protein_coding 984382 ENSG00000171735 ENSE00001317856 intron_variant 1.819871 0.93512 0.68781 0.056701 0.856974288832577 0.322105 0.999999955418418 TRUE 4.07405e-06 ENSE00001317856_BRK ENSE00001317856 BRK 1 7527836 7528005 + 54 72 44 A,G; T,T NA NA NA TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTTTTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGCCAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG 7467775 7467945 NA NA NA NA NA NA TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTTTTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGCCAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG TCCTTCCTTCCTTCCCTCTTTCCAACTGAATTCTCGTTTTTCCTCTCTCCCTAGTGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACCTTCCACCGGAGGTGCTACTGGCTCCTTCAGGTAGGTGGCTGGGACTGGATTCTTCTTCTGTCTCTGGTGCTCGG control NA NA NA NA NA 288 236 0.0206289148748808 0.124972498541078 0.0728007067079792 NA NA 0.911303444033945 0.953230807158172 NA NA -0.890674529159065 -0.828258308617094 NA 0.932267125596059 NA -0.859466418888079 NA TRUE NA NA NA NA NA NA CAMTA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMTA1 NA NA NA ENSG00000171735 ENSE00001317856 NA NA NA NA NA NA NA 0.999999955418418 TRUE NA ENSE00001318026_000 ENSE00001318026 000 2 228892150 228892319 - 50 60 60 NA NA NA NA NA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 NA NA NA NA NA NA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA natural NA NA NA NA NA 2182 1088 0.459368983547553 0.58794659657945 0.523657790063501 NA NA 0.459368983547553 0.58794659657945 NA NA 0 0 NA 0.523657790063501 NA 0 NA FALSE NA NA NA NA NA NA SPHKAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPHKAP NA NA NA ENSG00000153820 ENSE00001318026 NA NA NA NA NA NA NA 0.233358014706211 FALSE NA ENSE00001318026_001 ENSE00001318026 001 2 228892150 228892319 - 50 60 60 T C 228892163 5141 157 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTGCAAGGACTATTCA 228027433 228027603 228027446 228027447 228027447 downstr_intron 37 1.75510204081633 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTGCAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 845 113 1 1 1 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.41205340342055 NA 0.523657790063501 NA 0.476342209936499 NA FALSE NA 0 -0.387 . intron_variant MODIFIER SPHKAP HGNC 30619 ENST00000344657 4/10 1 NA GTA T,C 8.236e-06 2:228027447 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant 0.162428 0.19879 0.06629 0.053691 0.59873895238251 0.0443366 0.233358014706211 FALSE 4.07624e-06 ENSE00001318026_002 ENSE00001318026 002 2 228892150 228892319 - 50 60 60 T A 228892171 5142 149 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGTGGTCATTACAAGGACTATTCA 228027433 228027603 228027454 228027455 228027455 downstr_intron 29 1.59183673469388 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGTGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 38 59 0.998911953592863 0.967009013697305 0.982960483645084 NA NA 0.459368983547553 0.58794659657945 NA NA 0.53954297004531 0.379062417117855 NA 0.523657790063501 NA 0.459302693581583 NA FALSE NA 0 0.077 rs140410824 intron_variant MODIFIER SPHKAP HGNC 30619 ENST00000344657 4/10 rs140410824 1 A:0.0010 A:0 A:0.0029 NA A:0 A:0.003 A:0 A:0.0009 A:0.0035 CTC T,A 0.002001 2:228027455 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant 0.438161 0.23947 0.11415 0.053691 0.689879350611411 0.0436289 0.233358014706211 FALSE 0.00183936 ENSE00001318026_003 ENSE00001318026 003 2 228892150 228892319 - 50 60 60 C G 228892173 5143 147 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGCGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027456 228027457 228027457 downstr_intron 27 1.55102040816327 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGCGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 231 116 1 1 1 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.41205340342055 NA 0.523657790063501 NA 0.476342209936499 NA FALSE NA 0 0.805 . intron_variant MODIFIER SPHKAP HGNC 30619 ENST00000344657 4/10 1 NA CCC C,G 8.236e-06 2:228027457 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant 0.158023 0.32164 0.15159 0.053691 0.480610523616719 0.0436289 0.233358014706211 FALSE 1.22095e-05 ENSE00001318026_004 ENSE00001318026 004 2 228892150 228892319 - 50 60 60 C T 228892174 5144 146 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCAGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027457 228027458 228027458 downstr_intron 26 1.53061224489796 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCAGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 431 141 1 1 1 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.41205340342055 NA 0.523657790063501 NA 0.476342209936499 NA FALSE NA 0 -3.502 . intron_variant MODIFIER SPHKAP HGNC 30619 ENST00000344657 4/10 rs372871035 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0001 CCG C,T 2.471e-05 2:228027458 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant -0.355453 0.04924 0.00191 0.053691 0.604310033551011 0.0436289 0.233358014706211 FALSE 2.03484e-05 ENSE00001318026_005 ENSE00001318026 005 2 228892150 228892319 - 50 60 60 G A 228892175 5145 145 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACTGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027458 228027459 228027459 downstr_intron 25 1.51020408163265 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACTGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 433 494 0.990601554697462 1 0.995300777348731 NA NA 0.459368983547553 0.58794659657945 NA NA 0.531232571149909 0.41205340342055 NA 0.523657790063501 NA 0.47164298728523 NA FALSE NA 0 -0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:228027459 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant 0.133977 0.16429 0.04252 0.053691 0.533940608456435 0.0436289 0.233358014706211 FALSE 3.66226e-05 ENSE00001318026_006 ENSE00001318026 006 2 228892150 228892319 - 50 60 60 G T 228892175 5146 145 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACAGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027458 228027459 228027459 downstr_intron 25 1.51020408163265 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACAGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 738 340 1 0.982689859254858 0.991344929627429 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.394743262675408 NA 0.523657790063501 NA 0.467687139563927 NA FALSE NA 0 -0.507 NA NA NA SPHKAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPHKAP NA NA NA ENSG00000153820 ENSE00001318026 intron_variant -0.06183 0.13728 0.01882 0.053691 0.504348782320672 0.0436289 0.233358014706211 FALSE 3.25534e-05 ENSE00001318026_008 ENSE00001318026 008 2 228892150 228892319 - 50 60 60 C T 228892190 5148 130 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTAAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027473 228027474 228027474 downstr_intron 10 1.20408163265306 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTAAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 193 552 0.986461551709816 1 0.993230775854908 NA NA 0.459368983547553 0.58794659657945 NA NA 0.527092568162262 0.41205340342055 NA 0.523657790063501 NA 0.469572985791406 NA FALSE NA 0 0.635 . intron_variant MODIFIER SPHKAP HGNC 30619 ENST00000344657 4/10 1 NA TCA C,T 8.236e-06 2:228027474 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant 0.218225 0.24402 0.05462 0.053691 0.457259377116054 0.0436289 0.233358014706211 FALSE 4.06488e-06 ENSE00001318026_009 ENSE00001318026 009 2 228892150 228892319 - 50 60 60 A C 228892192 5149 128 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATGTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027475 228027476 228027476 downstr_intron 8 1.16326530612245 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATGTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 152 271 1 0.987596762657255 0.993798381328627 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.399650166077805 NA 0.523657790063501 NA 0.470140591265126 NA FALSE NA 0 -1.894 . splice_region_variant&intron_variant LOW SPHKAP HGNC 30619 ENST00000344657 4/10 rs370793462 1 NA G:0 G:0.0001 AAA A,C 3.295e-05 2:228027476 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 splice_region_variant -0.493746 0.15188 0.01539 0.053691 0.503229164069681 0.0436289 0.233358014706211 FALSE 2.03216e-05 ENSE00001318026_012 ENSE00001318026 012 2 228892150 228892319 - 50 60 60 T C 228892234 5152 86 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAGCAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027517 228027518 228027518 exon 26 0.433333333333333 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAGCAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 103 24 1 1 1 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.41205340342055 NA 0.523657790063501 NA 0.476342209936499 NA FALSE NA 1 1.756 . missense_variant MODERATE SPHKAP HGNC 30619 ENST00000344657 4/11 1 tolerated(0.11) benign(0.071) NA GTT T,C 8.236e-06 2:228027518 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 missense_variant 0.772086 0.79519 0.75104 0.487112 0.98379508760854 0 0.233358014706211 FALSE 4.06207e-06 ENSE00001318026_013 ENSE00001318026 013 2 228892150 228892319 - 50 60 60 C T 228892238 5153 82 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATATGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027521 228027522 228027522 exon 22 0.366666666666667 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATATGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 2317 205 0.976461028442357 0.998453901587432 0.987457465014895 NA NA 0.459368983547553 0.58794659657945 NA NA 0.517092044894804 0.410507305007983 NA 0.523657790063501 NA 0.463799674951394 NA FALSE NA 1 3.878 rs148934063 missense_variant MODERATE SPHKAP HGNC 30619 ENST00000344657 4/11 rs148934063 1 deleterious(0.04) probably_damaging(0.951) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0005 T:0.0012 ACA C,T 0.000733 2:228027522 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 missense_variant 5.086057 0.98476 0.97056 0.487112 0.998970469823116 0 0.233358014706211 FALSE 0.000674331 ENSE00001318026_014 ENSE00001318026 014 2 228892150 228892319 - 50 60 60 A G 228892239 5154 81 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGACGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027522 228027523 228027523 exon 21 0.35 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGACGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 695 42 0.99946585636236 0.8 0.89973292818118 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540096872814807 0.21205340342055 NA 0.523657790063501 NA 0.376075138117678 NA FALSE NA 1 2.364 . synonymous_variant LOW SPHKAP HGNC 30619 ENST00000344657 4/11 1 NA CAT A,G 8.236e-06 2:228027523 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 synonymous_variant 0.033552 0.97822 0.9376 0.487112 0.665106515672349 0 0.233358014706211 FALSE 4.06227e-06 ENSE00001318026_015 ENSE00001318026 015 2 228892150 228892319 - 50 60 60 C A 228892241 5155 79 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTTATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027524 228027525 228027525 exon 19 0.316666666666667 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTTATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 585 86 0.998797912817626 1 0.999398956408813 NA NA 0.459368983547553 0.58794659657945 NA NA 0.539428929270073 0.41205340342055 NA 0.523657790063501 NA 0.475741166345312 NA FALSE NA 1 4.367 . missense_variant MODERATE SPHKAP HGNC 30619 ENST00000344657 4/11 rs373384729&COSM1266643&COSM1266642 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0001 TCA C,A 8.236e-06 2:228027525 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 missense_variant 6.684224 0.98625 0.97708 0.487112 0.995216415955864 0 0.233358014706211 FALSE 1.21885e-05 ENSE00001318026_017 ENSE00001318026 017 2 228892150 228892319 - 50 60 60 C A 228892255 5157 65 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTTCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027538 228027539 228027539 exon 5 0.0833333333333333 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTTCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 14 144 1 1 1 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.41205340342055 NA 0.523657790063501 NA 0.476342209936499 NA FALSE NA 1 5.982 . missense_variant MODERATE SPHKAP HGNC 30619 ENST00000344657 4/11 1 deleterious(0) probably_damaging(1) NA GCA C,A 8.236e-06 2:228027539 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 missense_variant 6.78643 0.99158 0.99112 0.487112 0.99164821039062 0 0.233358014706211 FALSE 4.06392e-06 ENSE00001318026_018 ENSE00001318026 018 2 228892150 228892319 - 50 60 60 A G 228892267 5158 53 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTCTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027550 228027551 228027551 upstr_intron -8 -0.116666666666667 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTCTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 242 526 1 0.998907291029839 0.999453645514919 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.410960694450389 NA 0.523657790063501 NA 0.475795855451418 NA FALSE NA 0 -0.071 . splice_region_variant&intron_variant LOW SPHKAP HGNC 30619 ENST00000344657 3/10 1 NA AAA A,G 2.471e-05 2:228027551 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 splice_region_variant 0.620681 0.18308 0.09097 0.053691 0.601915988929952 0.3426 0.233358014706211 FALSE 2.03298e-05 ENSE00001318026_019 ENSE00001318026 019 2 228892150 228892319 - 50 60 60 C T 228892285 5159 35 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACATACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027568 228027569 228027569 upstr_intron -26 -0.416666666666667 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACATACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 25 293 1 0.999459847778203 0.999729923889101 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.411513251198753 NA 0.523657790063501 NA 0.4760721338256 NA FALSE NA 0.022 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:228027569 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant -0.053609 0.24043 0.03175 0.053691 0.369208274603073 0.119696 0.233358014706211 FALSE 3.67335e-05 ENSE00001318026_020 ENSE00001318026 020 2 228892150 228892319 - 50 60 60 C G 228892285 5160 35 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACCTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027568 228027569 228027569 upstr_intron -26 -0.416666666666667 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACCTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 100 98 1 1 1 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.41205340342055 NA 0.523657790063501 NA 0.476342209936499 NA FALSE NA 0.022 0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPHKAP NA NA NA ENSG00000153820 ENSE00001318026 intron_variant -0.222836 0.24521 0.10242 0.053691 0.333844006999668 0.119696 0.233358014706211 FALSE 4.48965e-05 ENSE00001318026_021 ENSE00001318026 021 2 228892150 228892319 - 50 60 60 G C 228892286 5161 34 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAAGGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027569 228027570 228027570 upstr_intron -27 -0.433333333333333 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAAGGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 142 98 1 1 1 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.41205340342055 NA 0.523657790063501 NA 0.476342209936499 NA FALSE NA 0.022 1.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:228027570 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant -0.507715 0.14237 0.0215 0.053691 0.327006130776549 0.119696 0.233358014706211 FALSE 1.22528e-05 ENSE00001318026_022 ENSE00001318026 022 2 228892150 228892319 - 50 60 60 G A 228892286 5162 34 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAATGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027569 228027570 228027570 upstr_intron -27 -0.433333333333333 CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAATGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 62 31 1 1 1 NA NA 0.459368983547553 0.58794659657945 NA NA 0.540631016452447 0.41205340342055 NA 0.523657790063501 NA 0.476342209936499 NA FALSE NA 0.022 1.53 NA NA NA SPHKAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPHKAP NA NA NA ENSG00000153820 ENSE00001318026 intron_variant -0.063143 0.12329 0.00164 0.053691 0.35031875514409 0.119696 0.233358014706211 FALSE 1.22528e-05 ENSE00001318026_023 ENSE00001318026 023 2 228892150 228892319 - 50 60 60 A G 228892291 5163 29 CTTCTAAAAAGACAGTCAGGTTTTTGACCTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 228027574 228027575 228027575 upstr_intron -32 -0.516666666666667 CTTCTAAAAAGACAGTCAGGTTTTTGACCTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA mutant NA NA NA NA NA 75 364 0.973060376833512 1 0.986530188416756 NA NA 0.459368983547553 0.58794659657945 NA NA 0.513691393285959 0.41205340342055 NA 0.523657790063501 NA 0.462872398353255 NA FALSE NA 0 1.729 . intron_variant MODIFIER SPHKAP HGNC 30619 ENST00000344657 3/10 1 NA AAG A,G 1.647e-05 2:228027575 SPHKAP HGNC Symbol protein_coding 201695 ENSG00000153820 ENSE00001318026 intron_variant -0.480188 0.17707 0.02104 0.053691 0.443173973299575 0.119696 0.233358014706211 FALSE 4.08931e-06 ENSE00001318026_BRK ENSE00001318026 BRK 2 228892150 228892319 - 50 60 60 A,G; T,T NA NA NA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCTTGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGCCAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA 228027433 228027603 NA NA NA NA NA NA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCTTGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGCCAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA CTTCTAAAAAGACAGTCAGGTTTTTGACTTTAACGTACTATTTTTGCCCTCTTTTCCCAGGTCTGCTTTGTGAATCTTGATGTGAACAAGGATGAATGCAGCACAGAGCACCTGCAACAGGTAACATTTGAAACTCAAGCTGACCGGGAGGTCATTACAAGGACTATTCA control 11 33 0 0 0 491 118 0.0106094597824287 0.0027231655728394 0.00666631267763406 NA NA 0.459368983547553 0.58794659657945 NA NA -0.448759523765124 -0.58522343100661 NA 0.523657790063501 NA -0.516991477385867 NA TRUE NA NA NA NA NA NA SPHKAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPHKAP NA NA NA ENSG00000153820 ENSE00001318026 NA NA NA NA NA NA NA 0.233358014706211 FALSE NA ENSE00001318694_000 ENSE00001318694 000 19 4331968 4332137 - 51 57 62 NA NA NA NA NA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 NA NA NA NA NA NA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA natural NA NA NA NA NA 1103 759 0.988409885741348 1 0.994204942870674 NA NA 0.988409885741348 1 NA NA 0 0 NA 0.994204942870674 NA 0 NA FALSE NA NA NA NA NA NA STAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAP2 NA NA NA ENSG00000178078 ENSE00001318694 NA NA NA NA NA NA NA 1.62685084919042e-13 FALSE NA ENSE00001318694_003 ENSE00001318694 003 19 4331968 4332137 - 51 57 62 G A 4331998 258 140 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGTGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332000 4332001 4332001 downstr_intron 21 1.42 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGTGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 193 45 0.999786575065697 1 0.999893287532848 NA NA 0.988409885741348 1 NA NA 0.0113766893243483 0 NA 0.994204942870674 NA 0.00568834466217416 NA FALSE NA 0 -0.057 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 1 NA CGC G,A 8.236e-06 19:4332001 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 intron_variant 1.038805 0.12189 0.01876 0.078448 0.897989870719107 0.046875 1.62685084919042e-13 FALSE 8.32265e-06 ENSE00001318694_005 ENSE00001318694 005 19 4331968 4332137 - 51 57 62 A G 4332011 260 127 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGCAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332013 4332014 4332014 downstr_intron 8 1.16 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGCAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 54 236 1 0.998370941635556 0.999185470817778 NA NA 0.988409885741348 1 NA NA 0.0115901142586516 -0.00162905836444405 NA 0.994204942870674 NA 0.0049805279471038 NA FALSE NA 0 0.189 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 rs375001946 1 NA G:0.0002 G:0 TAC A,G 8.236e-06 19:4332014 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 splice_region_variant 0.123233 0.11367 0.00977 0.078448 0.697087036815712 0.0977633 1.62685084919042e-13 FALSE NA ENSE00001318694_008 ENSE00001318694 008 19 4331968 4332137 - 51 57 62 A G 4332023 263 115 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGCGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332025 4332026 4332026 exon -5 0.929824561403509 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGCGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 291 281 1 1 1 NA NA 0.988409885741348 1 NA NA 0.0115901142586516 0 NA 0.994204942870674 NA 0.00579505712932582 NA FALSE NA 0.991 3.049 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 rs150376620 1 NA G:0 G:0.0001 CAC A,G 2.471e-05 19:4332026 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 missense_variant 2.059103 0.95448 0.70366 0.706298 0.997216244220175 0 1.62685084919042e-13 FALSE 1.22182e-05 ENSE00001318694_009 ENSE00001318694 009 19 4331968 4332137 - 51 57 62 C T 4332024 264 114 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGATGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332026 4332027 4332027 exon -6 0.912280701754386 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGATGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 221 96 1 1 1 NA NA 0.988409885741348 1 NA NA 0.0115901142586516 0 NA 0.994204942870674 NA 0.00579505712932582 NA FALSE NA 0.99 0.71 rs144462461 upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 rs144462461 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0.0011 T:0 ACC C,T 9.884e-05 19:4332027 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 missense_variant 4.766587 0.93256 0.46369 0.706298 0.997982186681801 0 1.62685084919042e-13 FALSE 8.95824e-05 ENSE00001318694_013 ENSE00001318694 013 19 4331968 4332137 - 51 57 62 G T 4332057 268 81 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTAGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332059 4332060 4332060 exon 19 0.333333333333333 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTAGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 31 284 1 1 1 NA NA 0.988409885741348 1 NA NA 0.0115901142586516 0 NA 0.994204942870674 NA 0.00579505712932582 NA FALSE NA 0.989 1.614 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 COSM1266895 1 NA CGA G,T 8.236e-06 19:4332060 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 synonymous_variant 0.271726 0.95699 0.6223 0.706298 0.508513222288865 0 1.62685084919042e-13 FALSE 4.07471e-06 ENSE00001318694_014 ENSE00001318694 014 19 4331968 4332137 - 51 57 62 C T 4332059 269 79 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTATCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332061 4332062 4332062 exon 17 0.298245614035088 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTATCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 371 306 1 0.991207477751043 0.995603738875521 NA NA 0.988409885741348 1 NA NA 0.0115901142586516 -0.00879252224895732 NA 0.994204942870674 NA 0.00139879600484716 NA FALSE NA 1 3.123 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 1 NA ACA C,T 8.236e-06 19:4332062 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 missense_variant 3.054223 0.97113 0.56977 0.706298 0.841504217539358 0 1.62685084919042e-13 FALSE 4.07455e-06 ENSE00001318694_016 ENSE00001318694 016 19 4331968 4332137 - 51 57 62 G A 4332078 271 60 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCTAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332080 4332081 4332081 upstr_intron -3 -0.032258064516129 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCTAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 128 174 0.379801364902352 0.335710341967153 0.357755853434752 NA NA 0.988409885741348 1 NA NA -0.608608520838996 -0.664289658032847 NA 0.994204942870674 NA -0.636449089435922 NA TRUE NA 0.003 -1.128 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 1 NA TGG G,A 8.236e-06 19:4332081 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 splice_region_variant -0.44386 0.15562 0.00352 0.053691 0.392647360874134 0.0812381 1.62685084919042e-13 FALSE NA ENSE00001318694_017 ENSE00001318694 017 19 4331968 4332137 - 51 57 62 G C 4332081 272 57 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTGCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332083 4332084 4332084 upstr_intron -6 -0.0806451612903226 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTGCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 20 10 1 0.95 0.975 NA NA 0.988409885741348 1 NA NA 0.0115901142586516 -0.05 NA 0.994204942870674 NA -0.0192049428706742 NA FALSE NA 0.068 0.643 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 1 NA GGA G,C 8.236e-06 19:4332084 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 splice_region_variant -0.250512 0.24015 0.03807 0.053691 0.568184791632225 0.0708573 1.62685084919042e-13 FALSE 4.17418e-06 ENSE00001318694_020 ENSE00001318694 020 19 4331968 4332137 - 51 57 62 C T 4332102 275 36 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGAATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332104 4332105 4332105 upstr_intron -27 -0.419354838709677 TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGAATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 3154 250 0.999244480579881 1 0.999622240289941 NA NA 0.988409885741348 1 NA NA 0.0108345948385331 0 NA 0.994204942870674 NA 0.00541729741926655 NA FALSE NA 0 0.724 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 1 NA TCC C,T 8.237e-06 19:4332105 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 intron_variant 0.163295 0.0762 0.00216 0.078448 0.669350896713942 0.046323 1.62685084919042e-13 FALSE 8.42354e-06 ENSE00001318694_021 ENSE00001318694 021 19 4331968 4332137 - 51 57 62 A G 4332104 276 34 TTTCATTGATGAGTAGACTGAGGCTCACTGACTCGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA 4331970 4332140 4332106 4332107 4332107 upstr_intron -29 -0.451612903225806 TTTCATTGATGAGTAGACTGAGGCTCACTGACTCGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA TTTCATTGATGAGTAGACTGAGGCTCACTGACTTGGATTCTTTCCTTTCTTTTGTTCCCCAGGTAGAGACCTTGGAGTGTCGGGAAATGTGGAAAGGCTTCATCTTAACGGTGGTGGAGGTAAGAGTAGTGGCTCTCTGCGCCCTCTCTCCCATTCTCCAGATCTCCTCA mutant NA NA NA NA NA 155 77 1 1 1 NA NA 0.988409885741348 1 NA NA 0.0115901142586516 0 NA 0.994204942870674 NA 0.00579505712932582 NA FALSE NA 0 -2.153 . upstream_gene_variant MODIFIER STAP2 HGNC 30430 ENST00000601179 rs534705334 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAA A,G 2.471e-05 19:4332107 STAP2 HGNC Symbol protein_coding 18743 ENSG00000178078 ENSE00001318694 intron_variant 0.087124 0.07494 0.00046 0.078448 0.464455900743391 0.046323 1.62685084919042e-13 FALSE 2.11017e-05 ENSE00001318870_000 ENSE00001318870 000 8 139825143 139825312 - 39 81 50 NA NA NA NA NA GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 NA NA NA NA NA NA GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG natural 155 135 0.977250711233414 0.957931456319477 0.967591083776446 3825 4614 0.943427707745731 0.969385944791512 0.956406826268622 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 0 0 0 0 0.967591083776446 0.956406826268622 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001318870 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001318870_002 ENSE00001318870 002 8 139825143 139825312 - 39 81 50 C T 139825167 2956 146 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCACACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812923 138812924 138812924 downstr_intron 15 1.39473684210526 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCACACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 301 77 0.883906579033069 0.948213425354529 0.916060002193799 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA -0.0595211287126615 -0.0211725194369837 0.967591083776446 0.956406826268622 NA -0.0403468240748226 NA FALSE NA 0 -1.867 rs144566534 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 8/64 rs144566534 1 T:0.0016 T:0 T:0 NA T:0.0079 T:0 T:0 GCG C,T 0.0003624 8:138812924 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 intron_variant -0.348233 0.17233 0.00612 0.061011 0.512249016288012 0.0536485 8.25832618148535e-32 FALSE 0.000312759 ENSE00001318870_003 ENSE00001318870 003 8 139825143 139825312 - 39 81 50 G A 139825168 2957 145 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTTGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812924 138812925 138812925 downstr_intron 14 1.36842105263158 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTTGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 205 47 0.986045729102811 1 0.993022864551405 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0426180213570804 0.0306140552084876 0.967591083776446 0.956406826268622 NA 0.036616038282784 NA FALSE NA 0 -1.593 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 8/64 rs372387055 1 NA A:0.0002 A:0 CGA G,A 8.236e-06 8:138812925 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 intron_variant -0.284832 0.12688 0.00316 0.061011 0.511898851935668 0.0536485 8.25832618148535e-32 FALSE 1.21849e-05 ENSE00001318870_004 ENSE00001318870 004 8 139825143 139825312 - 39 81 50 C T 139825177 2958 136 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAACAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812933 138812934 138812934 downstr_intron 5 1.13157894736842 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAACAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 368 27 1 0.809276564694292 0.904638282347146 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565722922542694 -0.16010938009722 0.967591083776446 0.956406826268622 NA -0.0517685439214755 NA FALSE NA 1 5.575 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 8/64 1 NA GCT C,T 8.236e-06 8:138812934 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 splice_region_variant 2.545407 0.989 0.96425 0.061011 0.977623240005544 0.973848 8.25832618148535e-32 FALSE 4.06118e-06 ENSE00001318870_005 ENSE00001318870 005 8 139825143 139825312 - 39 81 50 C T 139825182 2959 131 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCAGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812938 138812939 138812939 exon -1 1 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCAGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 233 30 0.949823650130565 0.993360552516848 0.971592101323706 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.00639594238483443 0.0239746077253352 0.967591083776446 0.956406826268622 NA 0.0151852750550848 NA FALSE NA 0.842 -0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138812939 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 splice_region_variant 2.47155 0.95926 0.51901 0.638212 0.888704330107242 0 8.25832618148535e-32 FALSE 2.84287e-05 ENSE00001318870_008 ENSE00001318870 008 8 139825143 139825312 - 39 81 50 G C 139825191 2962 122 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCGTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812947 138812948 138812948 exon -10 0.888888888888889 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCGTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 581 346 0.998932647971308 0.993562502120164 0.996247575045736 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0555049402255774 0.0241765573286519 0.967591083776446 0.956406826268622 NA 0.0398407487771146 NA FALSE NA 0.006 -1.136 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138812948 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 synonymous_variant 0.508744 0.3257 0.10835 0.638212 0.735213675626047 0 8.25832618148535e-32 FALSE 4.06091e-06 ENSE00001318870_010 ENSE00001318870 010 8 139825143 139825312 - 39 81 50 G A 139825193 2964 120 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCTCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812949 138812950 138812950 exon -12 0.864197530864197 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCTCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 66 579 1 1 1 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565722922542694 0.0306140552084876 0.967591083776446 0.956406826268622 NA 0.0435931737313785 NA FALSE NA 1 7.405 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 8/65 1 unknown(0) NA GGG G,A 1.647e-05 8:138812950 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 2.903032 0.98931 0.97866 0.638212 0.999044766792358 0 8.25832618148535e-32 FALSE 8.12176e-06 ENSE00001318870_011 ENSE00001318870 011 8 139825143 139825312 - 39 81 50 C T 139825201 2965 112 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTATGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812957 138812958 138812958 exon -20 0.765432098765432 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTATGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 1374 348 0.99730341856189 0.998118961373649 0.99771118996777 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0538757108161598 0.028733016582137 0.967591083776446 0.956406826268622 NA 0.0413043636991484 NA FALSE NA 1 7.293 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 8/65 1 unknown(0) NA ACA C,T 8.237e-06 8:138812958 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 3.473095 0.989 0.9764 0.638212 0.997479748818704 0 8.25832618148535e-32 FALSE 4.06075e-06 ENSE00001318870_012 ENSE00001318870 012 8 139825143 139825312 - 39 81 50 A G 139825203 2966 110 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGCTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812959 138812960 138812960 exon -22 0.740740740740741 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGCTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 1193 327 0.951530130547497 0.975994299141862 0.963762214844679 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.00810242280176621 0.00660835435034945 0.967591083776446 0.956406826268622 NA 0.00735538857605783 NA FALSE NA 1 1.302 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 8/65 1 NA AAC A,G 8.237e-06 8:138812960 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 synonymous_variant 0.602458 0.93638 0.20018 0.638212 0.59303310386969 0 8.25832618148535e-32 FALSE 8.12176e-06 ENSE00001318870_013 ENSE00001318870 013 8 139825143 139825312 - 39 81 50 C T 139825204 2967 109 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTATTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812960 138812961 138812961 exon -23 0.728395061728395 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTATTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 125 689 0.997336025581146 1 0.998668012790573 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0539083178354157 0.0306140552084876 0.967591083776446 0.956406826268622 NA 0.0422611865219517 NA FALSE NA 1 7.293 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 8/65 1 unknown(0) NA ACA C,T 8.236e-06 8:138812961 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 3.07961 0.989 0.9764 0.638212 0.997629449193913 0 8.25832618148535e-32 FALSE 4.06078e-06 ENSE00001318870_014 ENSE00001318870 014 8 139825143 139825312 - 39 81 50 C T 139825220 2968 93 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACACAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812976 138812977 138812977 exon -39 0.530864197530864 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACACAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 256 254 0.999516733319101 0.965746192199098 0.982631462759099 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0560890255733699 -0.00363975259241467 0.967591083776446 0.956406826268622 NA 0.0262246364904776 NA FALSE NA 0.986 2.786 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 8/65 rs201289140 1 unknown(0) NA GCG C,T 0.0001977 8:138812977 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 2.717845 0.84595 0.85205 0.638212 0.997954140596577 0 8.25832618148535e-32 FALSE 0.000150256 ENSE00001318870_015 ENSE00001318870 015 8 139825143 139825312 - 39 81 50 G A 139825221 2969 92 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACATGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812977 138812978 138812978 exon -40 0.518518518518518 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACATGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 62 595 1 0.999090620913663 0.999545310456832 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565722922542694 0.029704676122151 0.967591083776446 0.956406826268622 NA 0.0431384841882102 NA FALSE NA 0.018 -0.61 rs147818620 synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 8/65 rs147818620 1 A:0.0012 A:0.0008 A:0 NA A:0 A:0 A:0.0051 A:0.0005 A:0.0003 CGT G,A 0.0001894 8:138812978 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 synonymous_variant 0.732505 0.55202 0.03567 0.638212 0.612336374099311 0 8.25832618148535e-32 FALSE 0.000170557 ENSE00001318870_016 ENSE00001318870 016 8 139825143 139825312 - 39 81 50 T G 139825222 2970 91 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACCCGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812978 138812979 138812979 exon -41 0.506172839506173 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACCCGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 46 190 1 0.996101205755726 0.998050602877863 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565722922542694 0.0267152609642134 0.967591083776446 0.956406826268622 NA 0.0416437766092414 NA FALSE NA 1 5.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138812979 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 1.79601 0.9853 0.96818 0.638212 0.979862162902882 0 8.25832618148535e-32 FALSE 8.12163e-06 ENSE00001318870_017 ENSE00001318870 017 8 139825143 139825312 - 39 81 50 T A 139825222 2971 91 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACTCGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812978 138812979 138812979 exon -41 0.506172839506173 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACTCGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 188 63 0.99756690829964 1 0.99878345414982 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0541392005539094 0.0306140552084876 0.967591083776446 0.956406826268622 NA 0.0423766278811985 NA FALSE NA 1 5.662 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001318870 missense_variant 2.496933 0.98516 0.96383 0.638212 0.93221132954759 0 8.25832618148535e-32 FALSE 4.06081e-06 ENSE00001318870_018 ENSE00001318870 018 8 139825143 139825312 - 39 81 50 C T 139825227 2972 86 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCAAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812983 138812984 138812984 exon 36 0.444444444444444 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCAAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 159 410 0.999740886186904 1 0.999870443093452 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.056313178441173 0.0306140552084876 0.967591083776446 0.956406826268622 NA 0.0434636168248303 NA FALSE NA 0.003 -1.057 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 8/65 COSM1096571 1 NA TCG C,T 4.942e-05 8:138812984 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 synonymous_variant 1.794452 0.22916 0.03846 0.638212 0.716226495428674 0 8.25832618148535e-32 FALSE 4.06085e-05 ENSE00001318870_020 ENSE00001318870 020 8 139825143 139825312 - 39 81 50 T C 139825231 2974 82 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGGCTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812987 138812988 138812988 exon 32 0.395061728395062 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGGCTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 81 692 1 0.994891739950879 0.99744586997544 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565722922542694 0.025505795159367 0.967591083776446 0.956406826268622 NA 0.0410390437068182 NA FALSE NA 1 7.498 rs138056919 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 8/65 rs138056919 1 unknown(0) NA C:0 C:0.0002 GTC T,C 2.471e-05 8:138812988 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 2.622626 0.98612 0.97454 0.638212 0.998725992345624 0 8.25832618148535e-32 FALSE 3.65482e-05 ENSE00001318870_021 ENSE00001318870 021 8 139825143 139825312 - 39 81 50 T C 139825237 2975 76 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTGTTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138812993 138812994 138812994 exon 26 0.320987654320988 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTGTTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 352 219 0.992514801843611 0.974181639710425 0.983348220777018 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0490870940978805 0.00479569491891274 0.967591083776446 0.956406826268622 NA 0.0269413945083966 NA FALSE NA 1 7.498 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 8/65 rs370565439 1 unknown(0) NA C:0.0005 C:0 ATA T,C 8.236e-06 8:138812994 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 2.411883 0.98646 0.97454 0.638212 0.998486824129506 0 8.25832618148535e-32 FALSE 4.06081e-06 ENSE00001318870_022 ENSE00001318870 022 8 139825143 139825312 - 39 81 50 C T 139825249 2976 64 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCAGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138813005 138813006 138813006 exon 14 0.172839506172839 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCAGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 279 1906 1 0.999272265916459 0.999636132958229 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565722922542694 0.0298863211249464 0.967591083776446 0.956406826268622 NA 0.0432293066896079 NA FALSE NA 1 5.6 rs143614201 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 8/65 rs143614201&COSM1455100 1 unknown(0) NA T:0 T:0.0001 CCG C,T 0.000173 8:138813006 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 4.59854 0.98928 0.96597 0.638212 0.998986232040211 0 8.25832618148535e-32 FALSE 0.00013401 ENSE00001318870_023 ENSE00001318870 023 8 139825143 139825312 - 39 81 50 G A 139825250 2977 63 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGTGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138813006 138813007 138813007 exon 13 0.160493827160494 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGTGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 414 718 1 0.999338621309184 0.999669310654592 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565722922542694 0.0299526765176718 0.967591083776446 0.956406826268622 NA 0.0432624843859706 NA FALSE NA 1 0.61 rs143147850 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 8/65 rs143147850 1 unknown(0) NA A:0.0005 A:0 CGC G,A 8.236e-05 8:138813007 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 missense_variant 3.835025 0.96535 0.80634 0.638212 0.999084316028322 0 8.25832618148535e-32 FALSE 5.68556e-05 ENSE00001318870_024 ENSE00001318870 024 8 139825143 139825312 - 39 81 50 G A 139825257 2978 56 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGATCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138813013 138813014 138813014 exon 6 0.0740740740740741 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGATCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 617 171 0.999933281921 0.99705329380038 0.99849328786069 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565055741752694 0.0276673490088674 0.967591083776446 0.956406826268622 NA 0.0420864615920684 NA FALSE NA 1 3.49 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 8/65 1 NA GGT G,A 8.236e-06 8:138813014 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 synonymous_variant 0.990248 0.96472 0.83045 0.693126 0.69077582372798 0 8.25832618148535e-32 FALSE 4.06108e-06 ENSE00001318870_025 ENSE00001318870 025 8 139825143 139825312 - 39 81 50 A G 139825269 2979 44 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCCTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138813025 138813026 138813026 upstr_intron -7 -0.12 GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCCTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 82 1831 0.998125906267713 0.997259855074145 0.997692880670929 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0546981985219827 0.0278739102826322 0.967591083776446 0.956406826268622 NA 0.0412860544023074 NA FALSE NA 0.241 1.9 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 7/64 rs373961690 1 NA G:0 G:0.0001 AAG A,G 0.0001647 8:138813026 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 splice_region_variant 0.372535 0.21522 0.01553 0.061011 0.680961909947304 0.238004 8.25832618148535e-32 FALSE 8.52813e-05 ENSE00001318870_026 ENSE00001318870 026 8 139825143 139825312 - 39 81 50 G C 139825284 2980 29 GGGTTCCAAAGTCCCTAAAACTTATCCTGTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138813040 138813041 138813041 upstr_intron -22 -0.42 GGGTTCCAAAGTCCCTAAAACTTATCCTGTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 29 23 1 1 1 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA 0.0565722922542694 0.0306140552084876 0.967591083776446 0.956406826268622 NA 0.0435931737313785 NA FALSE NA 0 -0.363 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 7/64 1 NA AGA G,C 1.647e-05 8:138813041 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 intron_variant -0.231167 0.19578 0.06046 0.061011 0.596010751491642 0.101451 8.25832618148535e-32 FALSE 8.12447e-06 ENSE00001318870_027 ENSE00001318870 027 8 139825143 139825312 - 39 81 50 G T 139825286 2981 27 GGGTTCCAAAGTCCCTAAAACTTATCATCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 138813042 138813043 138813043 upstr_intron -24 -0.46 GGGTTCCAAAGTCCCTAAAACTTATCATCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG mutant NA NA NA NA NA 1352 329 0.941676269154901 0.988180714778633 0.964928491966767 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 NA NA -0.00175143859082949 0.0187947699871205 0.967591083776446 0.956406826268622 NA 0.0085216656981455 NA FALSE NA 0 -0.053 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 7/64 1 NA AGG G,T 1.647e-05 8:138813043 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001318870 intron_variant -0.138155 0.18769 0.06676 0.061011 0.733123056439875 0.101451 8.25832618148535e-32 FALSE 1.21882e-05 ENSE00001318870_BRK ENSE00001318870 BRK 8 139825143 139825312 - 39 81 50 A,G; T,T NA NA NA GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCTTTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGCCGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG 138812899 138813069 NA NA NA NA NA NA GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCTTTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGCCGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG GGGTTCCAAAGTCCCTAAAACTTATCCTCTCTCCTTGCTTTCCTTTCCAGTTTGACCTACAGCGGATTGTGATCTATTGTGACTCGAGACACGCAGAATTGGAGACTTGTTGTGATATCCCCTCGGGTCCGGTGAGCAGACTCTCGCACAGAGAGGATGGGAGGAAATGG control 94 27 0.0548061923716692 0.024292918662263 0.0395495555169661 785 415 0.0137498604354692 0.0107577535092021 0.0122538069723357 0.977250711233414 0.957931456319477 0.943427707745731 0.969385944791512 -0.922444518861745 -0.933638537657214 -0.929677847310261 -0.95862819128231 0.967591083776446 0.956406826268622 -0.92804152825948 -0.944153019296286 0.0161114910368061 TRUE TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001318870 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001319058_000 ENSE00001319058 000 10 126186561 126186730 + 44 93 33 NA NA NA NA NA TCCTTGATCCCAAACTTATGCCATGTCCCTCTCTCTTTTCCCAGTATGCCTGTGGCATCAAAGCCGAGGTGGTGGGGAAGCCTTCTCCTGAGTTTTTCAAGTCTGCCCTGCAAGCGATAGGAGTGGAAGCCCACCAGGTAGGTTGGCGCCTTGTGAAGTGGGTCAGGGGA 124497991 124498161 NA NA NA NA NA NA TCCTTGATCCCAAACTTATGCCATGTCCCTCTCTCTTTTCCCAGTATGCCTGTGGCATCAAAGCCGAGGTGGTGGGGAAGCCTTCTCCTGAGTTTTTCAAGTCTGCCCTGCAAGCGATAGGAGTGGAAGCCCACCAGGTAGGTTGGCGCCTTGTGAAGTGGGTCAGGGGA TCCTTGATCCCAAACTTATGCCATGTCCCTCTCTCTTTTCCCAGTATGCCTGTGGCATCAAAGCCGAGGTGGTGGGGAAGCCTTCTCCTGAGTTTTTCAAGTCTGCCCTGCAAGCGATAGGAGTGGAAGCCCACCAGGTAGGTTGGCGCCTTGTGAAGTGGGTCAGGGGA natural 13 17 1 1 1 1451 759 0.984850482184755 0.999799185153463 0.992324833669109 1 1 0.984850482184755 0.999799185153463 0 0 0 0 1 0.992324833669109 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003491478 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001319124_000 ENSE00001319124 000 11 73984542 73984711 - 48 63 59 NA NA NA NA NA TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 NA NA NA NA NA NA TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC natural NA NA NA NA NA 69 142 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA P4HA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P4HA3 NA NA NA ENSG00000149380 ENSE00003577917 NA NA NA NA NA NA NA 1.60495574125891e-07 FALSE NA ENSE00001319124_003 ENSE00001319124 003 11 73984542 73984711 - 48 63 59 A C 73984560 2146 152 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCAGGACTGACTATAGCTCTAC 74273496 74273666 74273514 74273515 74273515 downstr_intron 30 1.63829787234043 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCAGGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 57 93 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.004 0.376 . intron_variant MODIFIER P4HA3 HGNC 30135 ENST00000331597 10/12 1 NA CAT A,C 2.471e-05 11:74273515 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 intron_variant 0.448438 0.30153 0.10003 0.088506 0.635255219112191 0.092889 1.60495574125891e-07 FALSE 1.15437e-05 ENSE00001319124_006 ENSE00001319124 006 11 73984542 73984711 - 48 63 59 T C 73984602 2149 110 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACGTTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 74273556 74273557 74273557 exon -13 0.80952380952381 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACGTTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 41 16 0.993817489891473 1 0.996908744945736 NA NA 1 1 NA NA -0.00618251010852733 0 NA 1 NA -0.00309125505426366 NA FALSE NA 0.004 -1.339 . synonymous_variant LOW P4HA3 HGNC 30135 ENST00000331597 10/13 1 NA ATG T,C 1.647e-05 11:74273557 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 synonymous_variant 0.373303 0.9571 0.12504 0.732398 0.79004796374538 0 1.60495574125891e-07 FALSE 1.91137e-05 ENSE00001319124_010 ENSE00001319124 010 11 73984542 73984711 - 48 63 59 T C 73984616 2153 96 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAGACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 74273570 74273571 74273571 exon -27 0.587301587301587 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAGACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 40 91 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 6.223 . missense_variant MODERATE P4HA3 HGNC 30135 ENST00000331597 10/13 1 deleterious(0) possibly_damaging(0.883) NA TTT T,C 8.236e-06 11:74273571 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 missense_variant 5.878575 0.98742 0.97073 0.732398 0.997911262686897 0 1.60495574125891e-07 FALSE NA ENSE00001319124_012 ENSE00001319124 012 11 73984542 73984711 - 48 63 59 G C 73984637 2155 75 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCGTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 74273591 74273592 74273592 exon 16 0.253968253968254 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCGTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 120 45 0.996146537821569 1 0.998073268910784 NA NA 1 1 NA NA -0.00385346217843119 0 NA 1 NA -0.00192673108921559 NA FALSE NA 1 2.225 . missense_variant MODERATE P4HA3 HGNC 30135 ENST00000331597 10/13 rs375800750 1 tolerated(0.39) benign(0.123) NA C:0 C:0.0001 AGG G,C 8.236e-06 11:74273592 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 missense_variant 1.424335 0.97312 0.80354 0.732398 0.951517994840125 0 1.60495574125891e-07 FALSE 4.83774e-06 ENSE00001319124_013 ENSE00001319124 013 11 73984542 73984711 - 48 63 59 G A 73984638 2156 74 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCTCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 74273592 74273593 74273593 exon 15 0.238095238095238 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCTCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 84 66 0.999509046227552 1 0.999754523113776 NA NA 1 1 NA NA -0.000490953772448011 0 NA 1 NA -0.000245476886224005 NA FALSE NA 0.991 0.048 . synonymous_variant LOW P4HA3 HGNC 30135 ENST00000331597 10/13 1 NA GGG G,A 8.236e-06 11:74273593 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 synonymous_variant 0.748724 0.96362 0.55432 0.732398 0.605170087978959 0 1.60495574125891e-07 FALSE 4.95584e-06 ENSE00001319124_014 ENSE00001319124 014 11 73984542 73984711 - 48 63 59 G A 73984640 2157 72 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCTCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 74273594 74273595 74273595 exon 13 0.206349206349206 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCTCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 61 212 0.99864284003018 0.998184418317467 0.998413629173823 NA NA 1 1 NA NA -0.00135715996982044 -0.00181558168253337 NA 1 NA -0.00158637082617691 NA FALSE NA 1 7.668 . missense_variant MODERATE P4HA3 HGNC 30135 ENST00000331597 10/13 1 deleterious(0.04) probably_damaging(0.992) NA GGG G,A 8.236e-06 11:74273595 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 missense_variant 4.281519 0.99003 0.98163 0.732398 0.993817626684781 0 1.60495574125891e-07 FALSE NA ENSE00001319124_017 ENSE00001319124 017 11 73984542 73984711 - 48 63 59 A C 73984663 2160 49 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTGTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 74273617 74273618 74273618 upstr_intron -11 -0.169491525423729 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTGTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 30 1431 1 0.996466035239317 0.998233017619659 NA NA 1 1 NA NA 0 -0.00353396476068268 NA 1 NA -0.00176698238034134 NA FALSE NA 0.001 -0.999 . intron_variant MODIFIER P4HA3 HGNC 30135 ENST00000331597 9/12 1 NA AAA ,C 8.237e-06 11:74273618 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 intron_variant 0.512442 0.96579 0.03762 0.106106 0.76721802317518 0.677421 1.60495574125891e-07 FALSE 1.01573e-05 ENSE00001319124_022 ENSE00001319124 022 11 73984542 73984711 - 48 63 59 T C 73984678 2165 34 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAGTATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 74273632 74273633 74273633 upstr_intron -26 -0.423728813559322 TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAGTATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 47 196 1 0.99980559650168 0.99990279825084 NA NA 1 1 NA NA 0 -0.000194403498320339 NA 1 NA -9.72017491601695e-05 NA FALSE NA 0.01 0.346 . intron_variant MODIFIER P4HA3 HGNC 30135 ENST00000331597 9/12 rs371297421 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0007 C:0 ATT T,C 6.591e-05 11:74273633 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 intron_variant 1.535985 0.2381 0.22104 0.106106 0.845632274387624 0.142003 1.60495574125891e-07 FALSE 5.88009e-05 ENSE00001319124_023 ENSE00001319124 023 11 73984542 73984711 - 48 63 59 T C 73984686 2166 26 TGCCTGTCCCTCTGGTGCCATCTGCGTAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC 74273496 74273666 74273640 74273641 74273641 upstr_intron -34 -0.559322033898305 TGCCTGTCCCTCTGGTGCCATCTGCGTAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC TGCCTGTCCCTCTGGTGCCATCTGCATAAAATAATATGTTCTGTTTTTTTTTTTCTCAGTCACCAAGCAGCCCCCTCTACAGAATGAAGTCAGGAAACCGAGTTGCAACATTTATGATCTATGTGAGTATTGCTCTGGGCTTCTTACTTCATGACTGACTATAGCTCTAC mutant NA NA NA NA NA 128 35 0.997069960241483 1 0.998534980120742 NA NA 1 1 NA NA -0.00293003975851669 0 NA 1 NA -0.00146501987925834 NA FALSE NA 0.465 0.36 . intron_variant MODIFIER P4HA3 HGNC 30135 ENST00000331597 9/12 rs374767136 1 NA C:0.0016 C:0 ATG T,C 0.0001071 11:74273641 P4HA3 HGNC Symbol protein_coding 75856 ENSG00000149380 ENSE00003577917 intron_variant -0.064582 0.28515 0.13394 0.106106 0.782622087057001 0.0814608 1.60495574125891e-07 FALSE 9.8191e-05 ENSE00001319180_000 ENSE00001319180 000 1 55059573 55059742 + 41 99 30 NA NA NA NA NA ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 NA NA NA NA NA NA ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC natural NA NA NA NA NA 786 1312 0.994693496037184 0.863165857033026 0.928929676535105 NA NA 0.994693496037184 0.863165857033026 NA NA 0 0 NA 0.928929676535105 NA 0 NA FALSE NA NA NA NA NA NA ACOT11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACOT11 NA NA NA ENSG00000162390 ENSE00003477798 NA NA NA NA NA NA NA 1.33339142705338e-10 FALSE NA ENSE00001319180_001 ENSE00001319180 001 1 55059573 55059742 + 41 99 30 C T 55059592 1937 20 ATGTTGTTCCTCATTCCTTTGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54593918 54593919 54593919 upstr_intron -22 -0.51219512195122 ATGTTGTTCCTCATTCCTTTGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 241 247 1 1 1 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.136834142966974 NA 0.928929676535105 NA 0.0710703234648948 NA FALSE NA 0 -0.902 . intron_variant MODIFIER ACOT11 HGNC 18156 ENST00000371316 4/16 1 NA TCG C,T 1.647e-05 1:54593919 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 intron_variant 0.010618 0.20024 0.02547 0.078448 0.434658077371834 0.0477023 1.33339142705338e-10 FALSE 1.63983e-05 ENSE00001319180_005 ENSE00001319180 005 1 55059573 55059742 + 41 99 30 A G 55059624 1941 52 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCGGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54593950 54593951 54593951 exon 11 0.111111111111111 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCGGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 35 974 1 1 1 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.136834142966974 NA 0.928929676535105 NA 0.0710703234648948 NA FALSE NA 1 2.254 . missense_variant MODERATE ACOT11 HGNC 18156 ENST00000371316 5/17 1 tolerated(0.39) benign(0.026) NA CAG A,G 8.236e-06 1:54593951 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 missense_variant 2.409814 0.98361 0.92434 0.615465 0.997199699819076 0 1.33339142705338e-10 FALSE 4.0659e-06 ENSE00001319180_006 ENSE00001319180 006 1 55059573 55059742 + 41 99 30 C T 55059631 1942 59 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCTTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54593957 54593958 54593958 exon 18 0.181818181818182 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCTTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 117 231 1 1 1 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.136834142966974 NA 0.928929676535105 NA 0.0710703234648948 NA FALSE NA 0.01 0.196 . synonymous_variant LOW ACOT11 HGNC 18156 ENST00000371316 5/17 1 NA CCT C,T 8.236e-06 1:54593958 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 synonymous_variant 2.036401 0.48856 0.13605 0.615465 0.745970068989307 0 1.33339142705338e-10 FALSE 1.2192e-05 ENSE00001319180_008 ENSE00001319180 008 1 55059573 55059742 + 41 99 30 G A 55059634 1944 62 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCAGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54593960 54593961 54593961 exon 21 0.212121212121212 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCAGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 1585 92 0.995387275110952 0.998277042460165 0.996832158785558 NA NA 0.994693496037184 0.863165857033026 NA NA 0.000693779073767442 0.135111185427139 NA 0.928929676535105 NA 0.0679024822504533 NA FALSE NA 0 -2.533 . synonymous_variant LOW ACOT11 HGNC 18156 ENST00000371316 5/17 1 NA CGG G,A 4.942e-05 1:54593961 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 synonymous_variant 1.774443 0.1391 0.03227 0.615465 0.657317292495616 0 1.33339142705338e-10 FALSE 4.87611e-05 ENSE00001319180_010 ENSE00001319180 010 1 55059573 55059742 + 41 99 30 C T 55059682 1946 110 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCTACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54594008 54594009 54594009 exon -31 0.696969696969697 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCTACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 117 93 1 1 1 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.136834142966974 NA 0.928929676535105 NA 0.0710703234648948 NA FALSE NA 1 1.103 . synonymous_variant LOW ACOT11 HGNC 18156 ENST00000371316 5/17 rs35306628&rs370568235 1 NA T:0.0002 T:0 CCA C,T 8.236e-06 1:54594009 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 synonymous_variant 2.118766 0.98298 0.87712 0.615465 0.829911764904725 0 1.33339142705338e-10 FALSE 4.0655e-06 ENSE00001319180_011 ENSE00001319180 011 1 55059573 55059742 + 41 99 30 G A 55059689 1947 117 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCATGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54594015 54594016 54594016 exon -24 0.767676767676768 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCATGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 165 28 1 1 1 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.136834142966974 NA 0.928929676535105 NA 0.0710703234648948 NA FALSE NA 1 9.553 . missense_variant MODERATE ACOT11 HGNC 18156 ENST00000371316 5/17 1 deleterious(0.01) probably_damaging(0.997) NA CGT G,A 1.647e-05 1:54594016 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 missense_variant 6.823268 0.99619 0.99483 0.615465 0.999132463868717 0 1.33339142705338e-10 FALSE 1.22039e-05 ENSE00001319180_013 ENSE00001319180 013 1 55059573 55059742 + 41 99 30 C T 55059697 1949 125 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGTCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54594023 54594024 54594024 exon -16 0.848484848484849 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGTCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 329 78 1 0.852535391736937 0.926267695868469 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 -0.0106304652960891 NA 0.928929676535105 NA -0.00266198066663664 NA FALSE NA 0.424 0.011 . synonymous_variant LOW ACOT11 HGNC 18156 ENST00000371316 5/17 1 NA GCC C,T 1.647e-05 1:54594024 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 synonymous_variant 1.869067 0.97431 0.62108 0.615465 0.61243135601514 0 1.33339142705338e-10 FALSE 2.03446e-05 ENSE00001319180_014 ENSE00001319180 014 1 55059573 55059742 + 41 99 30 C T 55059698 1950 126 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCTGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54594024 54594025 54594025 exon -15 0.858585858585859 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCTGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant 18 17 0.85 0.969734032653198 0.909867016326599 NA NA NA NA NA NA NA 0.994693496037184 0.863165857033026 NA NA NA NA NA 0.928929676535105 NA NA NA NA NA 0.775 1.981 . stop_gained HIGH ACOT11 HGNC 18156 ENST00000371316 5/17 COSM426476&COSM426475 1 NA HC CCG C,T 4.118e-05 1:54594025 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 stop_gained 12.167046 0.98309 0.94064 0.615465 0.997832451466363 0 1.33339142705338e-10 FALSE 4.06977e-05 ENSE00001319180_016 ENSE00001319180 016 1 55059573 55059742 + 41 99 30 A G 55059704 1952 132 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGGTCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54594030 54594031 54594031 exon -9 0.919191919191919 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGGTCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 44 38 0.995227538006307 0.998992174066779 0.997109856036543 NA NA 0.994693496037184 0.863165857033026 NA NA 0.000534041969122656 0.135826317033753 NA 0.928929676535105 NA 0.0681801795014379 NA FALSE NA 0 -0.048 . missense_variant MODERATE ACOT11 HGNC 18156 ENST00000371316 5/17 1 tolerated(0.28) benign(0) NA GAT A,G 0.0001235 1:54594031 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 missense_variant -0.372503 0.2226 0.04054 0.615465 0.904385315443149 0 1.33339142705338e-10 FALSE 0.000130267 ENSE00001319180_017 ENSE00001319180 017 1 55059573 55059742 + 41 99 30 C T 55059706 1953 134 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATTACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54594032 54594033 54594033 exon -7 0.939393939393939 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATTACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 111 14 1 1 1 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.136834142966974 NA 0.928929676535105 NA 0.0710703234648948 NA FALSE NA 0.012 -0.568 . synonymous_variant LOW ACOT11 HGNC 18156 ENST00000371316 5/17 1 NA TCA C,T 8.236e-06 1:54594033 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 synonymous_variant 0.968865 0.21333 0.04585 0.615465 0.742422048647616 0 1.33339142705338e-10 FALSE 4.07365e-06 ENSE00001319180_018 ENSE00001319180 018 1 55059573 55059742 + 41 99 30 C A 55059717 1954 145 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAAATGGGTGCGCCTGGCTGCTGGAACGC 54593899 54594069 54594043 54594044 54594044 downstr_intron 5 1.17241379310345 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAAATGGGTGCGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 54 331 1 0.996233835744998 0.998116917872499 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.133067978711972 NA 0.928929676535105 NA 0.0691872413373941 NA FALSE NA 0 0.264 . splice_region_variant&intron_variant LOW ACOT11 HGNC 18156 ENST00000371316 5/16 1 NA ACT C,A 8.236e-06 1:54594044 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 splice_region_variant 0.385643 0.1745 0.00995 0.053691 0.36543641803818 0.0871123 1.33339142705338e-10 FALSE NA ENSE00001319180_019 ENSE00001319180 019 1 55059573 55059742 + 41 99 30 C T 55059724 1955 152 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGTGCCTGGCTGCTGGAACGC 54593899 54594069 54594050 54594051 54594051 downstr_intron 12 1.41379310344828 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGTGCCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 400 382 1 0.97941286578363 0.989706432891815 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.116247008750604 NA 0.928929676535105 NA 0.06077675635671 NA FALSE NA 0 -0.371 rs184760562 intron_variant MODIFIER ACOT11 HGNC 18156 ENST00000371316 5/16 rs184760562 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCG C,T 8.237e-06 1:54594051 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 intron_variant 0.0295 0.18644 0.00872 0.053691 0.394933143706259 0.0477339 1.33339142705338e-10 FALSE 1.64115e-05 ENSE00001319180_020 ENSE00001319180 020 1 55059573 55059742 + 41 99 30 G A 55059725 1956 153 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCACCTGGCTGCTGGAACGC 54593899 54594069 54594051 54594052 54594052 downstr_intron 13 1.44827586206897 ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCACCTGGCTGCTGGAACGC ATGTTGTTCCTCATTCCTTCGCCCTTACTGTTCCTCTCCAGGTGGGCATCCAGGTGGCCTCGGAGGACCTGTGCTCTGAGAAGCAGTGGAATGTGTGCAAGGCCTTGGCCACCTTCGTGGCCCGCCGAGAGATCACCAAGGTAACTGGGTGCGCCTGGCTGCTGGAACGC mutant NA NA NA NA NA 86 94 1 1 1 NA NA 0.994693496037184 0.863165857033026 NA NA 0.00530650396281585 0.136834142966974 NA 0.928929676535105 NA 0.0710703234648948 NA FALSE NA 0 -1.165 rs144741986 intron_variant MODIFIER ACOT11 HGNC 18156 ENST00000371316 5/16 rs144741986 1 A:0.0082 A:0.0295 A:0.0029 NA A:0 A:0 A:0 A:0.0297 A:0.0002 CGC G,A 0.002652 1:54594052 ACOT11 HGNC Symbol protein_coding 96935 ENSG00000162390 ENSE00003477798 intron_variant -0.360434 0.08819 0.00171 0.053691 0.501881930679092 0.0477339 1.33339142705338e-10 FALSE 0.00182456 ENSE00001319883_000 ENSE00001319883 000 15 91803505 91803674 + 45 90 35 NA NA NA NA NA ACCCCCTTCTTATTGGCAGGCAACCCCACACTCACCGTGAACACTTTCTCTGGGGTCCCCTTAGCTCTCATGTTGGTGTCATGGACTTGCTTGAGAATCATCCAGGCTTCATCATGTTTGCCCATCTGGTGAAACCAAGGAAAGACACAGGAAAAATTCATTGCTGACTA 91260274 91260444 NA NA NA NA NA NA TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT natural 21 28 0.976483170910483 0.944512507292774 0.960497839101628 842 1274 0.974100561618619 0.996207731858794 0.985154146738706 0.976483170910483 0.944512507292774 0.974100561618619 0.996207731858794 0 0 0 0 0.960497839101628 0.985154146738706 0 0 0 FALSE FALSE NA NA NA NA NA SV2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SV2B NA NA NA ENSG00000185518 ENSE00003592238 NA NA NA NA NA NA NA 0.534784655278294 FALSE NA ENSE00001319883_003 ENSE00001319883 003 15 91803505 91803674 + 45 90 35 C G 91803535 2553 31 ACCCCCTTCTTATTGGCAGGCAACCCCACACTCACCGTGAACACTTTCTCTGGGGTCCCCTTAGCTCTCATGTTGGTGTCATGGACTTGCTTGAGAATCATCCAGGCTTCATCATGTTTGCCCATCTGGTGAAACCAAGCAAAGACACAGGAAAAATTCATTGCTGACTA 91260274 91260444 91260304 91260305 91260305 upstr_intron -15 -0.311111111111111 TAGTCAGCAATGAATTTTTCCTGTGTCTTTGCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT mutant 10 12 0.992310120278605 0.978367753153953 0.985338936716279 131 52 1 1 1 0.976483170910483 0.944512507292774 0.974100561618619 0.996207731858794 0.0158269493681225 0.0338552458611798 0.0258994383813809 0.00379226814120615 0.960497839101628 0.985154146738706 0.0248410976146511 0.0148458532612935 0.00999524435335764 FALSE FALSE 0 0.192 . intron_variant MODIFIER SV2B HGNC 16874 ENST00000330276 4/11 1 NA TCC C,G 8.237e-06 15:91260305 SV2B HGNC Symbol protein_coding 201359 ENSG00000185518 ENSE00003592238 intron_variant -0.105898 0.77067 0.24659 0.218109 0.534881619542367 0.154032 0.534784655278294 FALSE 8.67747e-06 ENSE00001319883_006 ENSE00001319883 006 15 91803505 91803674 + 45 90 35 G T 91803562 2556 58 ACCCCCTTCTTATTGGCAGGCAACCCCACACTCACCGTGAACACTTTCTCTGGGGTCCCCTTAGCTCTCATGTTGGTGTCATGGACTTGCTTGAGAATCATCCAGGCTTCATAATGTTTGCCCATCTGGTGAAACCAAGGAAAGACACAGGAAAAATTCATTGCTGACTA 91260274 91260444 91260331 91260332 91260332 exon 13 0.144444444444444 TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATTATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT mutant NA NA NA NA NA 457 306 1 1 1 0.976483170910483 0.944512507292774 0.974100561618619 0.996207731858794 NA NA 0.0258994383813809 0.00379226814120615 0.960497839101628 0.985154146738706 NA 0.0148458532612935 NA FALSE NA 1 9.339 . missense_variant MODERATE SV2B HGNC 16874 ENST00000330276 5/12 1 deleterious(0) probably_damaging(0.949) NA TGA G,T 8.237e-06 15:91260332 SV2B HGNC Symbol protein_coding 201359 ENSG00000185518 ENSE00003592238 missense_variant 5.729154 0.9946 0.99116 0.516011 0.993567260262128 0 0.534784655278294 FALSE 4.1231e-06 ENSE00001319883_010 ENSE00001319883 010 15 91803505 91803674 + 45 90 35 C G 91803599 2560 95 ACCCCCTTCTTATTGGCAGGCAACCCCACACTCACCGTGAACACTTTCTCTGGGGTCCCCTTAGCTCTCATGTTGCTGTCATGGACTTGCTTGAGAATCATCCAGGCTTCATCATGTTTGCCCATCTGGTGAAACCAAGGAAAGACACAGGAAAAATTCATTGCTGACTA 91260274 91260444 91260368 91260369 91260369 exon -41 0.555555555555556 TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACAGCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT mutant NA NA NA NA NA 166 14 1 0.8 0.9 0.976483170910483 0.944512507292774 0.974100561618619 0.996207731858794 NA NA 0.0258994383813809 -0.196207731858794 0.960497839101628 0.985154146738706 NA -0.0851541467387065 NA FALSE NA 1 7.41 . missense_variant MODERATE SV2B HGNC 16874 ENST00000330276 5/12 1 deleterious(0.05) benign(0.347) NA ACC C,G 8.237e-06 15:91260369 SV2B HGNC Symbol protein_coding 201359 ENSG00000185518 ENSE00003592238 missense_variant 3.13908 0.99342 0.98351 0.623552 0.995593848062728 0 0.534784655278294 FALSE 4.07063e-06 ENSE00001319883_012 ENSE00001319883 012 15 91803505 91803674 + 45 90 35 C T 91803620 2562 116 ACCCCCTTCTTATTGGCAGGCAACCCCACACTCACCGTGAACACTTTCTCTGGGATCCCCTTAGCTCTCATGTTGGTGTCATGGACTTGCTTGAGAATCATCCAGGCTTCATCATGTTTGCCCATCTGGTGAAACCAAGGAAAGACACAGGAAAAATTCATTGCTGACTA 91260274 91260444 91260389 91260390 91260390 exon -20 0.788888888888889 TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGATCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT mutant NA NA NA NA NA 2048 48 0.997829280967745 1 0.998914640483872 0.976483170910483 0.944512507292774 0.974100561618619 0.996207731858794 NA NA 0.0237287193491258 0.00379226814120615 0.960497839101628 0.985154146738706 NA 0.013760493745166 NA FALSE NA 0.911 3.264 . missense_variant MODERATE SV2B HGNC 16874 ENST00000330276 5/12 rs373616246 1 tolerated(0.36) benign(0.061) NA T:0 T:0.0001 ACC C,T 4.118e-05 15:91260390 SV2B HGNC Symbol protein_coding 201359 ENSG00000185518 ENSE00003592238 missense_variant 2.634118 0.91702 0.75223 0.623552 0.991785543446343 0 0.534784655278294 FALSE 2.85283e-05 ENSE00001319883_014 ENSE00001319883 014 15 91803505 91803674 + 45 90 35 G A 91803633 2564 129 ACCCCCTTCTTATTGGCAGGCAACCCCACACTCACCGTGAATACTTTCTCTGGGGTCCCCTTAGCTCTCATGTTGGTGTCATGGACTTGCTTGAGAATCATCCAGGCTTCATCATGTTTGCCCATCTGGTGAAACCAAGGAAAGACACAGGAAAAATTCATTGCTGACTA 91260274 91260444 91260402 91260403 91260403 exon -7 0.933333333333333 TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTATTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT mutant NA NA NA NA NA 228 302 1 1 1 0.976483170910483 0.944512507292774 0.974100561618619 0.996207731858794 NA NA 0.0258994383813809 0.00379226814120615 0.960497839101628 0.985154146738706 NA 0.0148458532612935 NA FALSE NA 1 1.183 rs34873980 synonymous_variant LOW SV2B HGNC 16874 ENST00000330276 5/12 rs34873980 1 A:0.0046 A:0.0159 A:0.0029 NA A:0 A:0 A:0 A:0.0114 A:0 TGT G,A 0.00112 15:91260403 SV2B HGNC Symbol protein_coding 201359 ENSG00000185518 ENSE00003592238 synonymous_variant 0.931857 0.96306 0.75839 0.516011 0.79484768371548 0 0.534784655278294 FALSE 0.000874726 ENSE00001319883_015 ENSE00001319883 015 15 91803505 91803674 + 45 90 35 C T 91803638 2565 134 ACCCCCTTCTTATTGGCAGGCAACCCCACACTCACCATGAACACTTTCTCTGGGGTCCCCTTAGCTCTCATGTTGGTGTCATGGACTTGCTTGAGAATCATCCAGGCTTCATCATGTTTGCCCATCTGGTGAAACCAAGGAAAGACACAGGAAAAATTCATTGCTGACTA 91260274 91260444 91260407 91260408 91260408 exon -2 0.988888888888889 TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCATGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT TAGTCAGCAATGAATTTTTCCTGTGTCTTTCCTTGGTTTCACCAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGAGCTAAGGGGACCCCAGAGAAAGTGTTCACGGTGAGTGTGGGGTTGCCTGCCAATAAGAAGGGGGT mutant NA NA NA NA NA 307 447 0.99986587302366 0.99177388129132 0.99581987715749 0.976483170910483 0.944512507292774 0.974100561618619 0.996207731858794 NA NA 0.025765311405041 -0.00443385056747381 0.960497839101628 0.985154146738706 NA 0.0106657304187836 NA FALSE NA 1 7.41 rs149291154 missense_variant&splice_region_variant MODERATE SV2B HGNC 16874 ENST00000330276 5/12 rs149291154 1 deleterious(0.03) benign(0.15) NA T:0.0002 T:0.0001 ACG C,T 1.647e-05 15:91260408 SV2B HGNC Symbol protein_coding 201359 ENSG00000185518 ENSE00003592238 missense_variant 3.988111 0.99306 0.97816 0.516011 0.998882648325884 0 0.534784655278294 FALSE 2.05024e-05 ENSE00001320319_000 ENSE00001320319 000 16 17451809 17451978 - 60 39 71 NA NA NA NA NA GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 NA NA NA NA NA NA GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG natural 226 290 0.983939166734341 0.98600169146859 0.984970429101465 4210 4369 0.848585480628147 0.959856316794765 0.904220898711456 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0 0 0 0 0.984970429101465 0.904220898711456 0 0 0 FALSE FALSE NA NA NA NA NA XYLT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XYLT1 NA NA NA ENSG00000103489 ENSE00003512228 NA NA NA NA NA NA NA 0.985159711217428 TRUE NA ENSE00001320319_001 ENSE00001320319 001 16 17451809 17451978 - 60 39 71 C G 17451820 1089 159 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCACCTCTCAAGGGG 17357951 17358121 17357962 17357963 17357963 downstr_intron 49 1.83050847457627 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCACCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 20 26 0.995758947271954 0.957798973177568 0.976778960224761 412 538 1 0.999705923584449 0.999852961792225 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.0118197805376131 -0.0282027182910214 0.151414519371853 0.039849606789684 0.984970429101465 0.904220898711456 -0.00819146887670413 0.0956320630807685 0.103823531957473 FALSE FALSE 0 0.248 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/2 1 NA GCT C,G 8.237e-06 16:17357963 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.037053 0.17395 0.04238 0.106106 0.614733597017064 0.048454 0.985159711217428 TRUE 4.25662e-06 ENSE00001320319_003 ENSE00001320319 003 16 17451809 17451978 - 60 39 71 T A 17451829 1091 150 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTTGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357971 17357972 17357972 downstr_intron 40 1.67796610169492 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTTGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 1432 509 0.890705339940701 0.958711907620435 0.924708623780568 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.0421198593125542 -0.00114440917433056 0.984970429101465 0.904220898711456 NA 0.0204877250691118 NA FALSE NA 0 -0.325 NA NA NA XYLT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:17357972 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.230612 0.13589 0.01481 0.106106 0.606405144764262 0.048454 0.985159711217428 TRUE 8.30124e-06 ENSE00001320319_004 ENSE00001320319 004 16 17451809 17451978 - 60 39 71 A C 17451831 1092 148 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCGTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357973 17357974 17357974 downstr_intron 38 1.64406779661017 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCGTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 85 26 0.566062484794983 0.7494075765193 0.657735030657141 820 1110 0.999396193886615 0.999857494237294 0.999626844061955 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 -0.417876681939358 -0.23659411494929 0.150810713258468 0.040001177442529 0.984970429101465 0.904220898711456 -0.327235398444324 0.0954059453504986 0.422641343794823 FALSE FALSE 0 0.584 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/2 1 NA AAG A,C 8.237e-06 16:17357974 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.062957 0.23266 0.0811 0.163922 0.637851840849157 0.0477024 0.985159711217428 TRUE 4.13309e-06 ENSE00001320319_006 ENSE00001320319 006 16 17451809 17451978 - 60 39 71 C A 17451834 1094 145 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCATCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357976 17357977 17357977 downstr_intron 35 1.59322033898305 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCATCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 1940 417 0.858528808952833 0.983332169823183 0.920930489388008 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.00994332832468636 0.0234758530284179 0.984970429101465 0.904220898711456 NA 0.0167095906765521 NA FALSE NA 0 0.002 rs180795934 intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/2 rs180795934 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 GCT C,A 7.413e-05 16:17357977 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.29081 0.25712 0.11046 0.163922 0.649054453048644 0.107544 0.985159711217428 TRUE 4.5313e-05 ENSE00001320319_007 ENSE00001320319 007 16 17451809 17451978 - 60 39 71 G A 17451836 1095 143 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTTAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357978 17357979 17357979 downstr_intron 33 1.5593220338983 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTTAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 31 20 0.995670690546306 0.999734390475676 0.997702540510991 NA NA NA NA NA 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.011731523811965 0.013732699007086 NA NA 0.984970429101465 0.904220898711456 0.0127321114095255 NA NA NA FALSE 0 -0.368 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/2 rs541242523 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGA G,A 2.471e-05 16:17357979 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.051931 0.17422 0.03332 0.163922 0.490864468437791 0.106313 0.985159711217428 TRUE 8.2226e-06 ENSE00001320319_008 ENSE00001320319 008 16 17451809 17451978 - 60 39 71 A G 17451839 1096 140 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTACCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357981 17357982 17357982 downstr_intron 30 1.50847457627119 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTACCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 233 1984 0.963175158126677 0.996963143001886 0.980069150564282 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.11458967749853 0.0371068262071205 0.984970429101465 0.904220898711456 NA 0.0758482518528254 NA FALSE NA 0 0.05 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/2 1 NA GAT A,G 1.647e-05 16:17357982 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.033739 0.17684 0.06339 0.163922 0.373161796682398 0.106313 0.985159711217428 TRUE 4.09937e-06 ENSE00001320319_010 ENSE00001320319 010 16 17451809 17451978 - 60 39 71 G A 17451843 1098 136 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCATTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357985 17357986 17357986 downstr_intron 26 1.44067796610169 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCATTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 730 2947 0.996809012926588 0.999286566486168 0.998047789706378 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.148223532298441 0.0394302496914027 0.984970429101465 0.904220898711456 NA 0.0938268909949218 NA FALSE NA 0.037 0.843 rs145598490 intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/2 rs145598490 1 A:0.0006 A:0.0015 A:0 NA A:0 A:0.001 A:0 A:0.0009 A:0.0005 AGT G,A 0.0003707 16:17357986 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.108229 0.22718 0.07954 0.163922 0.586341791899699 0.107544 0.985159711217428 TRUE 0.000462168 ENSE00001320319_011 ENSE00001320319 011 16 17451809 17451978 - 60 39 71 C A 17451847 1099 132 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGTCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357989 17357990 17357990 downstr_intron 22 1.3728813559322 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGTCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 27 16 1 0.986226090250403 0.993113045125201 2524 53 0.918055338713536 0.935203905755489 0.926629622234512 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.016060833265659 0.000224398781813129 0.0694698580853887 -0.0246524110392765 0.984970429101465 0.904220898711456 0.00814261602373606 0.0224087235230561 0.0142661074993201 FALSE FALSE 0 0.094 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/2 1 NA GCC C,A 8.237e-06 16:17357990 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.140632 0.21137 0.13466 0.163922 0.574458926149622 0.048454 0.985159711217428 TRUE NA ENSE00001320319_012 ENSE00001320319 012 16 17451809 17451978 - 60 39 71 G A 17451851 1100 128 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTTTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357993 17357994 17357994 downstr_intron 18 1.30508474576271 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTTTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 665 216 1 1 1 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.151414519371853 0.0401436832052346 0.984970429101465 0.904220898711456 NA 0.0957791012885438 NA FALSE NA 0 0.881 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:17357994 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.043711 0.21212 0.07049 0.163922 0.338966830570412 0.048454 0.985159711217428 TRUE 0.00121565 ENSE00001320319_013 ENSE00001320319 013 16 17451809 17451978 - 60 39 71 G C 17451851 1101 128 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTGTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17357993 17357994 17357994 downstr_intron 18 1.30508474576271 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTGTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 19 35 0.998067888525506 0.983638430938448 0.990853159731977 879 1019 0.896201950459105 0.998525247975155 0.94736359921713 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.0141287217911653 -0.00236326053014124 0.047616469830958 0.0386689311803897 0.984970429101465 0.904220898711456 0.00588273063051203 0.0431427005056739 0.0372599698751618 FALSE FALSE 0 0.881 NA NA NA XYLT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XYLT1 NA NA NA ENSG00000103489 ENSE00003512228 intron_variant -0.444228 0.23029 0.08448 0.163922 0.32996599860736 0.048454 0.985159711217428 TRUE 0.000114222 ENSE00001320319_014 ENSE00001320319 014 16 17451809 17451978 - 60 39 71 A G 17451858 1102 121 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTCTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358000 17358001 17358001 downstr_intron 11 1.1864406779661 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTCTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 314 56 0.998946761663562 1 0.999473380831781 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.150361281035415 0.0401436832052346 0.984970429101465 0.904220898711456 NA 0.0952524821203247 NA FALSE NA 0.08 -0.045 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/2 1 NA AAA A,G 8.237e-06 16:17358001 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.087572 0.14349 0.01279 0.163922 0.30924436224268 0.0560279 0.985159711217428 TRUE NA ENSE00001320319_015 ENSE00001320319 015 16 17451809 17451978 - 60 39 71 A G 17451863 1103 116 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGCATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358005 17358006 17358006 downstr_intron 6 1.10169491525424 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGCATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 42 37 0.997048070739386 1 0.998524035369693 1136 591 0.992185792394236 0.994400837978361 0.993293315186299 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.0131089040050445 0.0139983085314103 0.143600311766089 0.0345445211835959 0.984970429101465 0.904220898711456 0.0135536062682274 0.0890724164748426 0.0755188102066152 FALSE FALSE 1 5.105 rs184623992 splice_region_variant&intron_variant&non_coding_transcript_variant LOW XYLT1 HGNC 15516 ENST00000563403 2/2 rs184623992 1 G:0.0016 G:0.0053 G:0.0014 NA G:0 G:0 G:0 G:0.0039 G:0 TAC A,G 0.0003047 16:17358006 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 splice_region_variant 0.662514 0.98172 0.9658 0.163922 0.845917364048228 0.948255 0.985159711217428 TRUE 0.000228039 ENSE00001320319_016 ENSE00001320319 016 16 17451809 17451978 - 60 39 71 G A 17451882 1104 97 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCATCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358024 17358025 17358025 exon -14 0.666666666666667 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCATCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 692 2629 0.983824201136093 0.999448017122689 0.991636109129391 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.135238720507946 0.0395917003279234 0.984970429101465 0.904220898711456 NA 0.0874152104179347 NA FALSE NA 1 3.47 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/3 rs374229842 1 NA A:0 A:0.0001 GGT G,A 5.765e-05 16:17358025 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 missense_variant 2.566136 0.9769 0.86468 0.6512 0.994996736206178 0 0.985159711217428 TRUE 4.07004e-05 ENSE00001320319_017 ENSE00001320319 017 16 17451809 17451978 - 60 39 71 G A 17451887 1105 92 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTTATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358029 17358030 17358030 exon -19 0.538461538461538 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTTATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 701 1957 0.871965281542657 0.999704848237729 0.935835064890193 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.0233798009145095 0.0398485314429639 0.984970429101465 0.904220898711456 NA 0.0316141661787367 NA FALSE NA 0.994 0.058 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/3 rs563629963 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGA G,A 2.471e-05 16:17358030 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 synonymous_variant 0.936458 0.76015 0.40949 0.615465 0.685802914871209 0 0.985159711217428 TRUE 1.22106e-05 ENSE00001320319_018 ENSE00001320319 018 16 17451809 17451978 - 60 39 71 C G 17451890 1106 89 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCCCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358032 17358033 17358033 exon 18 0.461538461538462 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCCCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 396 130 0.991331047720218 1 0.995665523860109 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.142745567092071 0.0401436832052346 0.984970429101465 0.904220898711456 NA 0.0914446251486527 NA FALSE NA 0.006 -2.918 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:17358033 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 synonymous_variant 1.50847 0.23706 0.00939 0.615465 0.632865890286394 0 0.985159711217428 TRUE 4.07345e-06 ENSE00001320319_019 ENSE00001320319 019 16 17451809 17451978 - 60 39 71 C A 17451890 1107 89 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCTCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358032 17358033 17358033 exon 18 0.461538461538462 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCTCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 36 21 0.972562665569642 0.995540692332176 0.984051678950909 NA NA NA NA NA 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 -0.0113765011646986 0.00953900086358639 NA NA 0.984970429101465 0.904220898711456 -0.000918750150556091 NA NA NA FALSE 0.006 -2.918 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003512228 synonymous_variant 2.690835 0.24477 0.01304 0.615465 0.605656326095048 0 8.6570108559178e-06 FALSE 4.07345e-06 ENSE00001320319_020 ENSE00001320319 020 16 17451809 17451978 - 60 39 71 C T 17451890 1108 89 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCACTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358032 17358033 17358033 exon 18 0.461538461538462 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCACTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 10 10 0.999104773766922 1 0.999552386883461 276 355 0.990455074139914 1 0.995227537069957 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.0151656070325807 0.0139983085314103 0.141869593511767 0.0401436832052346 0.984970429101465 0.904220898711456 0.0145819577819955 0.0910066383585006 0.0764246805765051 FALSE FALSE 0.006 -2.918 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XYLT1 NA NA NA ENSG00000103489 ENSE00003512228 synonymous_variant 1.95796 0.21571 0.00552 0.615465 0.585372887876418 0 0.985159711217428 TRUE 3.25876e-05 ENSE00001320319_021 ENSE00001320319 021 16 17451809 17451978 - 60 39 71 G A 17451891 1109 88 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCTGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358033 17358034 17358034 exon 17 0.435897435897436 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCTGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 512 1822 0.988943130476942 0.997216224096492 0.993079677286717 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.140357649848795 0.0373599073017271 0.984970429101465 0.904220898711456 NA 0.0888587785752612 NA FALSE NA 0.998 2.892 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:17358034 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 missense_variant 3.677584 0.98439 0.9243 0.615465 0.967095993764972 0 0.985159711217428 TRUE 2.44343e-05 ENSE00001320319_022 ENSE00001320319 022 16 17451809 17451978 - 60 39 71 G C 17451891 1110 88 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCGGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358033 17358034 17358034 exon 17 0.435897435897436 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCGGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 21 20 0.998260763633102 0.999440369841982 0.998850566737542 1079 942 0.986331503253919 0.955376826934586 0.970854165094252 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.0143215968987606 0.0134386783733925 0.137746022625772 -0.00447948986017954 0.984970429101465 0.904220898711456 0.0138801376360765 0.0666332663827962 0.0527531287467196 FALSE FALSE 0.998 2.892 NA NA NA XYLT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XYLT1 NA NA NA ENSG00000103489 ENSE00003512228 missense_variant 4.170952 0.98513 0.94483 0.615465 0.98425215264563 0 0.985159711217428 TRUE 4.07239e-06 ENSE00001320319_023 ENSE00001320319 023 16 17451809 17451978 - 60 39 71 G A 17451901 1111 78 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCATACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358043 17358044 17358044 exon 7 0.179487179487179 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCATACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 603 265 0.992822661960724 1 0.996411330980362 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.144237181332577 0.0401436832052346 0.984970429101465 0.904220898711456 NA 0.0921904322689059 NA FALSE NA 1 2.882 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/3 1 NA TGT G,A 8.236e-06 16:17358044 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 missense_variant 1.078475 0.89909 0.8785 0.615465 0.935349083100359 0 0.985159711217428 TRUE NA ENSE00001320319_024 ENSE00001320319 024 16 17451809 17451978 - 60 39 71 G A 17451904 1112 75 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATTCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358046 17358047 17358047 exon 4 0.102564102564103 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATTCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 185 562 0.965103403216341 0.999718486685344 0.982410944950842 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.116517922588194 0.0398621698905789 0.984970429101465 0.904220898711456 NA 0.0781900462393864 NA FALSE NA 0.994 2.046 rs181096525 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 2/3 rs181096525&COSM4128740 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 GGA G,A 2.471e-05 16:17358047 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 missense_variant 1.439951 0.51072 0.68035 0.615465 0.97666160631649 0 0.985159711217428 TRUE 1.22203e-05 ENSE00001320319_025 ENSE00001320319 025 16 17451809 17451978 - 60 39 71 A G 17451905 1113 74 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGACCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358047 17358048 17358048 exon 3 0.0769230769230769 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGACCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 24 33 0.913172250130698 0.994169183541498 0.953670716836098 391 660 0.999789306757091 0.995371741489451 0.997580524123271 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 -0.0707669166036432 0.00816749207290779 0.151203826128944 0.0355154246946852 0.984970429101465 0.904220898711456 -0.0312997122653677 0.0933596254118145 0.124659337677182 FALSE FALSE 0.659 -0.341 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW XYLT1 HGNC 15516 ENST00000563403 2/3 rs532467057 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 GAT A,G 0.0001565 16:17358048 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 splice_region_variant 0.05458 0.24468 0.09037 0.615465 0.553075501088379 0 0.985159711217428 TRUE 0.000150685 ENSE00001320319_026 ENSE00001320319 026 16 17451809 17451978 - 60 39 71 T G 17451911 1114 68 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTCCAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358053 17358054 17358054 upstr_intron -4 -0.0422535211267606 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTCCAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 2572 2050 0.976101645519274 0.995869814668533 0.985985730093903 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.127516164891127 0.0360134978737672 0.984970429101465 0.904220898711456 NA 0.0817648313824469 NA FALSE NA 0.171 -1 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA GTA T,G 8.236e-06 16:17358054 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 splice_region_variant 0.141895 0.15021 0.03634 0.088506 0.469718782792267 0.0961795 0.985159711217428 TRUE 4.07581e-06 ENSE00001320319_027 ENSE00001320319 027 16 17451809 17451978 - 60 39 71 A T 17451912 1115 67 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCAACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358054 17358055 17358055 upstr_intron -5 -0.0563380281690141 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCAACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 868 249 0.996734955873175 0.995420149138058 0.996077552505616 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.148149475245028 0.0355638323432927 0.984970429101465 0.904220898711456 NA 0.0918566537941602 NA FALSE NA 0.204 0.259 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA TAG G,T 8.236e-06 16:17358055 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 splice_region_variant 0.049314 0.20715 0.05248 0.088506 0.550500074592474 0.0999207 0.985159711217428 TRUE 4.07674e-06 ENSE00001320319_028 ENSE00001320319 028 16 17451809 17451978 - 60 39 71 G A 17451913 1116 66 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCTTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358055 17358056 17358056 upstr_intron -6 -0.0704225352112676 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCTTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 20 34 0.986319926898716 0.992255038116373 0.989287482507545 657 2471 0.997722951254774 0.997731771333572 0.997727361294173 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.00238076016437527 0.00625334664778354 0.149137470626627 0.0378754545388068 0.984970429101465 0.904220898711456 0.00431705340607941 0.0935064625827171 0.0891894091766376 FALSE FALSE 0.365 1.049 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW XYLT1 HGNC 15516 ENST00000563403 1/2 rs374328092 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 AGG G,A 0.0001235 16:17358056 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 splice_region_variant 0.096162 0.22498 0.04265 0.088506 0.338498170348739 0.0989778 0.985159711217428 TRUE 0.000101936 ENSE00001320319_029 ENSE00001320319 029 16 17451809 17451978 - 60 39 71 T C 17451916 1117 63 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCGTCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358058 17358059 17358059 upstr_intron -9 -0.112676056338028 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCGTCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 11 19 0.999193815245069 1 0.999596907622534 647 1118 0.996199586141449 0.963068068351438 0.979633827246443 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.0152546485107277 0.0139983085314103 0.147614105513302 0.00321175155667242 0.984970429101465 0.904220898711456 0.014626478521069 0.0754129285349872 0.0607864500139182 FALSE FALSE 0 0.074 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA ATG T,C 1.647e-05 16:17358059 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.251126 0.20117 0.02363 0.088506 0.412674228400928 0.0970748 0.985159711217428 TRUE 3.67167e-05 ENSE00001320319_030 ENSE00001320319 030 16 17451809 17451978 - 60 39 71 G A 17451917 1118 62 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTTATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358059 17358060 17358060 upstr_intron -10 -0.126760563380282 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTTATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 36 32 0.993193580117887 0.986226090250403 0.989709835184145 484 2038 0.997768074277445 0.993346763741294 0.995557419009369 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.00925441338354616 0.000224398781813129 0.149182593649298 0.0334904469465286 0.984970429101465 0.904220898711456 0.00473940608267964 0.0913365202979132 0.0865971142152336 FALSE FALSE 0 0.114 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 rs376945552 1 NA A:0.0002 A:0 TGA G,A 8.236e-06 16:17358060 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.031014 0.18489 0.0456 0.088506 0.446298262924051 0.0939016 0.985159711217428 TRUE 4.08871e-06 ENSE00001320319_031 ENSE00001320319 031 16 17451809 17451978 - 60 39 71 G A 17451921 1119 58 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCTTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358063 17358064 17358064 upstr_intron -14 -0.183098591549296 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCTTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 781 2290 0.993932243195155 0.998337589224897 0.996134916210026 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.145346762567008 0.0384812724301321 0.984970429101465 0.904220898711456 NA 0.09191401749857 NA FALSE NA 0 -0.574 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 rs370844962 1 NA A:0.0002 A:0 AGG G,A 8.236e-06 16:17358064 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.088596 0.20208 0.01143 0.088506 0.539364733525547 0.0925387 0.985159711217428 TRUE NA ENSE00001320319_032 ENSE00001320319 032 16 17451809 17451978 - 60 39 71 G A 17451924 1120 55 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTTTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358066 17358067 17358067 upstr_intron -17 -0.225352112676056 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTTTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 287 1627 0.970034908472136 0.97002040422314 0.970027656347638 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.121449427843989 0.0101640874283743 0.984970429101465 0.904220898711456 NA 0.0658067576361816 NA FALSE NA 0 -0.132 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA AGA G,A 2.471e-05 16:17358067 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.164369 0.55192 0.05844 0.088506 0.536722437766598 0.055107 0.985159711217428 TRUE 1.63626e-05 ENSE00001320319_033 ENSE00001320319 033 16 17451809 17451978 - 60 39 71 T C 17451929 1121 50 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCGTTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358071 17358072 17358072 upstr_intron -22 -0.295774647887324 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCGTTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 335 1005 1 1 1 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.151414519371853 0.0401436832052346 0.984970429101465 0.904220898711456 NA 0.0957791012885438 NA FALSE NA 0 -1.628 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA ATG T,C 3.295e-05 16:17358072 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.019247 0.16205 0.00452 0.088506 0.583150557596859 0.055107 0.985159711217428 TRUE 2.0472e-05 ENSE00001320319_034 ENSE00001320319 034 16 17451809 17451978 - 60 39 71 C T 17451933 1122 46 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACATGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358075 17358076 17358076 upstr_intron -26 -0.352112676056338 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACATGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 2188 744 0.997372895472445 0.995509523280308 0.996441209376377 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.148787414844298 0.0356532064855425 0.984970429101465 0.904220898711456 NA 0.0922203106649204 NA FALSE NA 0 -1.673 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:17358076 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.214823 0.15252 0.02732 0.088506 0.66639428098669 0.0476178 0.985159711217428 TRUE 0.000267494 ENSE00001320319_035 ENSE00001320319 035 16 17451809 17451978 - 60 39 71 C A 17451933 1123 46 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACTTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358075 17358076 17358076 upstr_intron -26 -0.352112676056338 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACTTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 537 420 0.925143192255187 0.997608752813147 0.961375972534167 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.0765577116270405 0.0377524360183816 0.984970429101465 0.904220898711456 NA 0.0571550738227111 NA FALSE NA 0 -1.673 NA NA NA XYLT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XYLT1 NA NA NA ENSG00000103489 ENSE00003512228 intron_variant -0.213053 0.15774 0.03037 0.088506 0.539302359139513 0.0476178 0.985159711217428 TRUE 4.59755e-05 ENSE00001320319_036 ENSE00001320319 036 16 17451809 17451978 - 60 39 71 G A 17451934 1124 45 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCATGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358076 17358077 17358077 upstr_intron -27 -0.366197183098592 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCATGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 396 1061 1 1 1 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.151414519371853 0.0401436832052346 0.984970429101465 0.904220898711456 NA 0.0957791012885438 NA FALSE NA 0 -1.751 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 rs372557927 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 CGT G,A 0.0001071 16:17358077 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.076207 0.11347 0.00286 0.088506 0.65173977047357 0.0476178 0.985159711217428 TRUE 8.36491e-05 ENSE00001320319_037 ENSE00001320319 037 16 17451809 17451978 - 60 39 71 G C 17451939 1125 40 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTGCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358081 17358082 17358082 upstr_intron -32 -0.436619718309859 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTGCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 2093 321 0.960368234057626 0.99950699459225 0.979937614324938 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.111782753429479 0.0396506777974842 0.984970429101465 0.904220898711456 NA 0.0757167156134815 NA FALSE NA 0 -1.233 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA GGA G,C 8.237e-06 16:17358082 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.289277 0.1715 0.01039 0.088506 0.603470073673441 0.0476178 0.985159711217428 TRUE NA ENSE00001320319_038 ENSE00001320319 038 16 17451809 17451978 - 60 39 71 G T 17451941 1126 38 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCAATCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358083 17358084 17358084 upstr_intron -34 -0.464788732394366 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCAATCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 1443 1765 0.989548552447221 0.993747745032725 0.991648148739973 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.140963071819074 0.0338914282379601 0.984970429101465 0.904220898711456 NA 0.0874272500285169 NA FALSE NA 0 -0.251 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA AGT G,T 8.237e-06 16:17358084 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.35133 0.12652 0.06834 0.088506 0.478489147680276 0.0476178 0.985159711217428 TRUE NA ENSE00001320319_039 ENSE00001320319 039 16 17451809 17451978 - 60 39 71 A G 17451945 1127 34 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTCTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358087 17358088 17358088 upstr_intron -38 -0.52112676056338 GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTCTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 33 25 0.955949059665114 0.946900741291723 0.951424900478419 162 905 0.987977660376128 0.997778109398884 0.992877884887506 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 -0.0279901070692268 -0.0391009501768665 0.139392179747981 0.0379217926041183 0.984970429101465 0.904220898711456 -0.0335455286230467 0.0886569861760499 0.122202514799097 FALSE FALSE 0 -0.272 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA AAA A,G 8.237e-06 16:17358088 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant -0.045605 0.13197 0.00092 0.088506 0.221232688228645 0.0476178 0.985159711217428 TRUE 4.36441e-06 ENSE00001320319_040 ENSE00001320319 040 16 17451809 17451978 - 60 39 71 A T 17451949 1128 30 GAAAAAGATGCTGGGGTAGTAAGTTAACTATTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358091 17358092 17358092 upstr_intron -42 -0.577464788732394 GAAAAAGATGCTGGGGTAGTAAGTTAACTATTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 15 69 0.994667764906786 0.902569407315112 0.948618586110949 774 664 0.999207116870849 0.998437337689027 0.998822227279938 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.010728598172445 -0.0834322841534778 0.150621636242702 0.0385810208942616 0.984970429101465 0.904220898711456 -0.0363518429905164 0.094601328568482 0.130953171558998 FALSE FALSE 0 -0.245 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 rs370364034 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 AAA A,T 4.118e-05 16:17358092 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.088578 0.1773 0.0312 0.088506 0.827654775758703 0.0476178 0.985159711217428 TRUE 5.75069e-05 ENSE00001320319_041 ENSE00001320319 041 16 17451809 17451978 - 60 39 71 A T 17451950 1129 29 GAAAAAGATGCTGGGGTAGTAAGTTAACATTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358092 17358093 17358093 upstr_intron -43 -0.591549295774648 GAAAAAGATGCTGGGGTAGTAAGTTAACATTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant 33 68 0.995216736935411 0.928210018312244 0.961713377623827 181 1531 0.997471788006252 0.99873327315463 0.998102530580441 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 0.0112775702010699 -0.0577916731563461 0.148886307378105 0.0388769563598644 0.984970429101465 0.904220898711456 -0.0232570514776381 0.0938816318689849 0.117138683346623 FALSE FALSE 0 0.583 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 rs374236786 1 NA T:0 T:0.0001 AAG A,T 2.471e-05 16:17358093 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.230592 0.1433 0.0335 0.088506 0.821958065841949 0.0476178 0.985159711217428 TRUE 2.2149e-05 ENSE00001320319_042 ENSE00001320319 042 16 17451809 17451978 - 60 39 71 T G 17451957 1130 22 GAAAAAGATGCTGGGGTAGTACGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 17358099 17358100 17358100 upstr_intron -50 -0.690140845070423 GAAAAAGATGCTGGGGTAGTACGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG mutant NA NA NA NA NA 1120 979 0.992947130376318 0.996115382042828 0.994531256209573 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 NA NA 0.144361649748171 0.0362590652480624 0.984970429101465 0.904220898711456 NA 0.0903103574981167 NA FALSE NA 0 -1.11 . intron_variant&non_coding_transcript_variant MODIFIER XYLT1 HGNC 15516 ENST00000563403 1/2 1 NA CTT T,G 8.238e-06 16:17358100 XYLT1 HGNC Symbol protein_coding 369112 ENSG00000103489 ENSE00003512228 intron_variant 0.421858 0.10737 0.00665 0.088506 0.713521089132807 0.0476178 0.985159711217428 TRUE 4.6781e-06 ENSE00001320319_BRK ENSE00001320319 BRK 16 17451809 17451978 - 60 39 71 A,G; T,T NA NA NA GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACTTGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGCCAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG 17357951 17358121 NA NA NA NA NA NA GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACTTGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGCCAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG GAAAAAGATGCTGGGGTAGTAAGTTAACTTTTTTTCACTCCTCACGTGCATTTTCTCCTTTCATCCTACAGGATCCACACCCAAGTCCGCTCATCACCCTGGAGACTCAGGTAAGTATCTTTCCTGTCTTGGCCACTTATCTCAGCCTTAGTATTCCAGCTCTCAAGGGG control 605 269 0.0453585085236465 0.203803347960956 0.124580928242301 985 211 0.00491969269805642 0 0.00245984634902821 0.983939166734341 0.98600169146859 0.848585480628147 0.959856316794765 -0.938580658210695 -0.782198343507634 -0.843665787930091 -0.959856316794765 0.984970429101465 0.904220898711456 -0.860389500859164 -0.901761052362428 0.0413715515032637 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XYLT1 NA NA NA ENSG00000103489 ENSE00003512228 NA NA NA NA NA NA NA 0.985159711217428 TRUE NA ENSE00001320368_000 ENSE00001320368 000 17 80923495 80923664 - 32 96 42 NA NA NA NA NA CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 NA NA NA NA NA NA CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC natural NA NA NA NA NA 479 1988 0.935011059169378 0.998245769607761 0.966628414388569 NA NA 0.935011059169378 0.998245769607761 NA NA 0 0 NA 0.966628414388569 NA 0 NA FALSE NA NA NA NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA ENSG00000175711 ENSE00003594199 NA NA NA NA NA NA NA 2.14222358700744e-11 FALSE NA ENSE00001320368_001 ENSE00001320368 001 17 80923495 80923664 - 32 96 42 C T 80923509 3704 156 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGAAATCAGGTCCCTCC 82965618 82965788 82965632 82965633 82965633 downstr_intron 18 1.58064516129032 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGAAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 359 462 1 1 1 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 0.00175423039223921 NA 0.966628414388569 NA 0.0333715856114306 NA FALSE NA 0.001 0.983 . intron_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/9 1 NA TCC C,T 8.259e-06 17:82965633 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 intron_variant 0.077496 0.12681 0.00357 0.078448 0.460566240876464 0.0478547 2.14222358700744e-11 FALSE NA ENSE00001320368_002 ENSE00001320368 002 17 80923495 80923664 - 32 96 42 C T 80923510 3705 155 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGAGAATCAGGTCCCTCC 82965618 82965788 82965633 82965634 82965634 downstr_intron 17 1.54838709677419 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGAGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 46 245 0.964524687429387 0.995132123055965 0.979828405242676 NA NA 0.935011059169378 0.998245769607761 NA NA 0.0295136282600089 -0.00311364655179602 NA 0.966628414388569 NA 0.0131999908541064 NA FALSE NA 0.002 0.776 . intron_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/9 1 NA CCC C,T 8.258e-06 17:82965634 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 intron_variant -0.221734 0.17605 0.03024 0.078448 0.426171233414452 0.0478547 2.14222358700744e-11 FALSE NA ENSE00001320368_005 ENSE00001320368 005 17 80923495 80923664 - 32 96 42 G C 80923512 3708 153 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGGGGGAATCAGGTCCCTCC 82965618 82965788 82965635 82965636 82965636 downstr_intron 15 1.48387096774194 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGGGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 66 63 1 1 1 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 0.00175423039223921 NA 0.966628414388569 NA 0.0333715856114306 NA FALSE NA 0 -0.579 NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:82965636 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 intron_variant -0.433305 0.18957 0.02021 0.078448 0.272424530118349 0.0478547 2.14222358700744e-11 FALSE NA ENSE00001320368_006 ENSE00001320368 006 17 80923495 80923664 - 32 96 42 C T 80923514 3709 151 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAAGCGGGAATCAGGTCCCTCC 82965618 82965788 82965637 82965638 82965638 downstr_intron 13 1.41935483870968 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAAGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 388 250 0.999893886533077 0.999366863771375 0.999630375152226 NA NA 0.935011059169378 0.998245769607761 NA NA 0.0648828273636993 0.00112109416361417 NA 0.966628414388569 NA 0.0330019607636567 NA FALSE NA 0 0.436 . intron_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/9 1 NA CCT C,T 8.251e-06 17:82965638 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 intron_variant 0.144464 0.22633 0.00732 0.078448 0.552963081079342 0.0478547 2.14222358700744e-11 FALSE NA ENSE00001320368_009 ENSE00001320368 009 17 80923495 80923664 - 32 96 42 C A 80923531 3712 134 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGTTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965654 82965655 82965655 exon -5 0.958333333333333 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGTTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 67 330 1 0.997896779688103 0.998948389844052 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 -0.000348989919657705 NA 0.966628414388569 NA 0.0323199754554822 NA FALSE NA 1 4.455 NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:82965655 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 3.198324 0.99108 0.96871 0.656854 0.996776608916276 0 2.14222358700744e-11 FALSE NA ENSE00001320368_011 ENSE00001320368 011 17 80923495 80923664 - 32 96 42 C G 80923534 3714 131 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGCAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965657 82965658 82965658 exon -8 0.927083333333333 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGCAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 916 230 0.999594951686869 0.994161246373064 0.996878099029966 NA NA 0.935011059169378 0.998245769607761 NA NA 0.0645838925174905 -0.00408452323469644 NA 0.966628414388569 NA 0.030249684641397 NA FALSE NA 1 4.473 . missense_variant&NMD_transcript_variant MODERATE B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 tolerated(0.23) benign(0.009) NA TCC C,G 8.242e-06 17:82965658 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 0.830233 0.98556 0.96645 0.656854 0.268318721892233 0 2.14222358700744e-11 FALSE NA ENSE00001320368_012 ENSE00001320368 012 17 80923495 80923664 - 32 96 42 C T 80923536 3715 129 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAAGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965659 82965660 82965660 exon -10 0.90625 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAAGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 348 32 0.997731210091556 1 0.998865605045778 NA NA 0.935011059169378 0.998245769607761 NA NA 0.062720150922178 0.00175423039223921 NA 0.966628414388569 NA 0.0322371906572086 NA FALSE NA 1 0.81 rs4986144 synonymous_variant&NMD_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000572977 3/10 rs4986144&COSM1685434 1 T:0.2230 T:0.233 T:0.1974 NA T:0.3214 T:0.2336 T:0.1155 T:0.2299 T:0.2911 CCT C,T 0.245 17:82965660 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant 0.861307 0.97401 0.56951 0.656854 0.437819919385793 0 2.14222358700744e-11 FALSE 0.252583 ENSE00001320368_013 ENSE00001320368 013 17 80923495 80923664 - 32 96 42 G A 80923539 3716 126 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAATGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965662 82965663 82965663 exon -13 0.875 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAATGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 747 820 0.995213718608613 0.992719703657543 0.993966711133078 NA NA 0.935011059169378 0.998245769607761 NA NA 0.060202659439235 -0.00552606595021732 NA 0.966628414388569 NA 0.0273382967445088 NA FALSE NA 0.578 -0.861 . synonymous_variant&NMD_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 NA CGT G,A 2.472e-05 17:82965663 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant 0.430136 0.5996 0.04001 0.656854 0.501570305109835 0 2.14222358700744e-11 FALSE NA ENSE00001320368_014 ENSE00001320368 014 17 80923495 80923664 - 32 96 42 G T 80923545 3717 120 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCATTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965668 82965669 82965669 exon -19 0.8125 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCATTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 124 303 1 1 1 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 0.00175423039223921 NA 0.966628414388569 NA 0.0333715856114306 NA FALSE NA 0.001 -0.672 rs150569016 synonymous_variant&NMD_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000572977 3/10 rs150569016 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 AGG G,T 8.239e-05 17:82965669 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant -0.254165 0.34204 0.01215 0.656854 0.649310768148565 0 2.14222358700744e-11 FALSE 4.61081e-05 ENSE00001320368_016 ENSE00001320368 016 17 80923495 80923664 - 32 96 42 C T 80923550 3719 115 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGAGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965673 82965674 82965674 exon -24 0.760416666666667 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGAGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 14 156 1 1 1 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 0.00175423039223921 NA 0.966628414388569 NA 0.0333715856114306 NA FALSE NA 1 6.022 rs142904836 missense_variant&NMD_transcript_variant MODERATE B3GNTL1 HGNC 21727 ENST00000572977 3/10 rs142904836 1 deleterious(0) probably_damaging(1) NA T:0.0002 T:0 CCC C,T 8.239e-06 17:82965674 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 6.463556 0.99081 0.98003 0.656854 0.998807063661003 0 2.14222358700744e-11 FALSE 4.17174e-06 ENSE00001320368_017 ENSE00001320368 017 17 80923495 80923664 - 32 96 42 C T 80923553 3720 112 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACATGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965676 82965677 82965677 exon -27 0.729166666666667 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACATGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 130 246 1 0.975283614954028 0.987641807477014 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 -0.0229621546537331 NA 0.966628414388569 NA 0.0210133930884445 NA FALSE NA 0.995 4.387 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:82965677 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 6.22659 0.97781 0.93628 0.656854 0.998796243655946 0 2.14222358700744e-11 FALSE 1.24934e-05 ENSE00001320368_018 ENSE00001320368 018 17 80923495 80923664 - 32 96 42 C A 80923553 3721 112 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACTTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965676 82965677 82965677 exon -27 0.729166666666667 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACTTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 1812 235 1 0.998651627960809 0.999325813980404 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 0.000405858353047739 NA 0.966628414388569 NA 0.0326973995918349 NA FALSE NA 0.995 4.387 NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA ENSG00000175711 ENSE00003594199 missense_variant 6.337372 0.97974 0.9497 0.656854 0.996448365776487 0 2.14222358700744e-11 FALSE 7.07962e-05 ENSE00001320368_020 ENSE00001320368 020 17 80923495 80923664 - 32 96 42 C T 80923566 3723 99 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCATGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965689 82965690 82965690 exon -40 0.59375 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCATGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 126 658 0.868599603554996 1 0.934299801777498 NA NA 0.935011059169378 0.998245769607761 NA NA -0.0664114556143823 0.00175423039223921 NA 0.966628414388569 NA -0.0323286126110716 NA FALSE NA 0.001 -0.854 . synonymous_variant&NMD_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000572977 3/10 rs369788727 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0001 ACG C,T 6.591e-05 17:82965690 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant 1.413162 0.10414 0.00423 0.656854 0.518321472927674 0 2.14222358700744e-11 FALSE 5.79883e-05 ENSE00001320368_021 ENSE00001320368 021 17 80923495 80923664 - 32 96 42 G A 80923567 3724 98 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGTGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965690 82965691 82965691 exon -41 0.583333333333333 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGTGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 381 73 1 1 1 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 0.00175423039223921 NA 0.966628414388569 NA 0.0333715856114306 NA FALSE NA 0.047 1.041 . missense_variant&NMD_transcript_variant MODERATE B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 tolerated(0.24) benign(0.024) NA CGC G,A 4.119e-05 17:82965691 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 1.082713 0.24901 0.08086 0.656854 0.97989186109711 0 2.14222358700744e-11 FALSE 2.06909e-05 ENSE00001320368_022 ENSE00001320368 022 17 80923495 80923664 - 32 96 42 T G 80923569 3725 96 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGCGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965692 82965693 82965693 exon -43 0.5625 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGCGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 321 1165 1 0.958410886214818 0.979205443107409 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 -0.0398348833929425 NA 0.966628414388569 NA 0.0125770287188398 NA FALSE NA 0.002 -0.869 . synonymous_variant&NMD_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 NA CTC T,G 8.238e-06 17:82965693 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant -0.980273 0.09452 0.02243 0.656854 0.361656583305603 0 2.14222358700744e-11 FALSE 4.13165e-06 ENSE00001320368_025 ENSE00001320368 025 17 80923495 80923664 - 32 96 42 C T 80923572 3728 93 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCACGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965695 82965696 82965696 exon -46 0.53125 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCACGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 714 43 1 1 1 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 0.00175423039223921 NA 0.966628414388569 NA 0.0333715856114306 NA FALSE NA 0.662 -0.809 rs78357976 synonymous_variant&NMD_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000572977 3/10 rs78357976&COSM1324706 1 T:0.0074 T:0.0272 T:0.0014 NA T:0 T:0 T:0 T:0.0154 T:0 GCG C,T 0.001854 17:82965696 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant 0.841417 0.07887 0.0579 0.656854 0.577215665121881 0 2.14222358700744e-11 FALSE 0.00157327 ENSE00001320368_026 ENSE00001320368 026 17 80923495 80923664 - 32 96 42 G A 80923573 3729 92 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTTGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965696 82965697 82965697 exon -47 0.520833333333333 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTTGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 892 640 0.998280349659647 1 0.999140174829823 NA NA 0.935011059169378 0.998245769607761 NA NA 0.063269290490269 0.00175423039223921 NA 0.966628414388569 NA 0.0325117604412541 NA FALSE NA 1 5.746 rs144611425 missense_variant&NMD_transcript_variant MODERATE B3GNTL1 HGNC 21727 ENST00000572977 3/10 rs144611425 1 deleterious(0) benign(0.305) NA A:0.0011 A:0 CGA G,A 6.59e-05 17:82965697 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 4.215524 0.98389 0.96658 0.656854 0.99881607722492 0 2.14222358700744e-11 FALSE 7.01575e-05 ENSE00001320368_027 ENSE00001320368 027 17 80923495 80923664 - 32 96 42 G T 80923578 3730 87 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTATGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965701 82965702 82965702 exon 45 0.46875 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTATGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 585 17 0.99093701833879 0.931749649899265 0.961343334119028 NA NA 0.935011059169378 0.998245769607761 NA NA 0.0559259591694116 -0.0664961197084953 NA 0.966628414388569 NA -0.00528508026954189 NA FALSE NA 1 4.787 . missense_variant&NMD_transcript_variant MODERATE B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 deleterious(0.02) possibly_damaging(0.819) NA AGA G,T 8.238e-06 17:82965702 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 5.977201 0.99128 0.97231 0.656854 0.998679604510493 0 2.14222358700744e-11 FALSE 8.23533e-06 ENSE00001320368_028 ENSE00001320368 028 17 80923495 80923664 - 32 96 42 A G 80923591 3731 74 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCACGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965714 82965715 82965715 exon 32 0.333333333333333 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCACGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 95 734 0.95708312674724 0.995686586532248 0.976384856639744 NA NA 0.935011059169378 0.998245769607761 NA NA 0.022072067577862 -0.00255918307551262 NA 0.966628414388569 NA 0.00975644225117467 NA FALSE NA 1 7.185 . start_lost&NMD_transcript_variant LOW B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 deleterious(0) possibly_damaging(0.733) NA CAT A,G 3.295e-05 17:82965715 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 start_lost 3.660996 0.98844 0.98567 0.656854 0.991719826161317 0 2.14222358700744e-11 FALSE 4.5387e-05 ENSE00001320368_030 ENSE00001320368 030 17 80923495 80923664 - 32 96 42 C T 80923598 3733 67 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGATGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965721 82965722 82965722 exon 25 0.260416666666667 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGATGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 679 239 0.981705157611416 1 0.990852578805708 NA NA 0.935011059169378 0.998245769607761 NA NA 0.0466940984420382 0.00175423039223921 NA 0.966628414388569 NA 0.0242241644171387 NA FALSE NA 1 6.103 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/10 rs369507575 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 ACC C,T 2.471e-05 17:82965722 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 5.889217 0.99077 0.98067 0.656854 0.998896117543817 0 2.14222358700744e-11 FALSE 2.06706e-05 ENSE00001320368_031 ENSE00001320368 031 17 80923495 80923664 - 32 96 42 C T 80923599 3734 66 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACAGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965722 82965723 82965723 exon 24 0.25 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACAGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 143 502 1 0.99634889851498 0.99817444925749 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 -0.00189687109278047 NA 0.966628414388569 NA 0.0315460348689208 NA FALSE NA 0 -4.27 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 NA CCG C,T 4.119e-05 17:82965723 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant 1.626139 0.09196 0.00799 0.656854 0.63502746301935 0 2.14222358700744e-11 FALSE 6.6177e-05 ENSE00001320368_032 ENSE00001320368 032 17 80923495 80923664 - 32 96 42 G A 80923600 3735 65 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCATGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965723 82965724 82965724 exon 23 0.239583333333333 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCATGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 535 124 0.82982772909255 1 0.914913864546275 NA NA 0.935011059169378 0.998245769607761 NA NA -0.105183330076828 0.00175423039223921 NA 0.966628414388569 NA -0.0517145498422943 NA FALSE NA 1 4.683 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 NA CGT G,A 2.471e-05 17:82965724 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 5.637466 0.99075 0.96481 0.656854 0.99876624351346 0 2.14222358700744e-11 FALSE 4.13661e-05 ENSE00001320368_034 ENSE00001320368 034 17 80923495 80923664 - 32 96 42 C A 80923607 3737 58 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATTGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965730 82965731 82965731 exon 16 0.166666666666667 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATTGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 158 573 0.99771162488371 0.995234714821007 0.996473169852359 NA NA 0.935011059169378 0.998245769607761 NA NA 0.0627005657143319 -0.00301105478675356 NA 0.966628414388569 NA 0.0298447554637892 NA FALSE NA 1 6.05 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 NA CCA C,A 8.238e-06 17:82965731 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 missense_variant 5.908939 0.99112 0.98186 0.615465 0.996842660526071 0 2.14222358700744e-11 FALSE NA ENSE00001320368_035 ENSE00001320368 035 17 80923495 80923664 - 32 96 42 A G 80923608 3738 57 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAACGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965731 82965732 82965732 exon 15 0.15625 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAACGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 251 51 0.998514963970231 1 0.999257481985115 NA NA 0.935011059169378 0.998245769607761 NA NA 0.0635039048008526 0.00175423039223921 NA 0.966628414388569 NA 0.0326290675965459 NA FALSE NA 0.181 -0.741 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 NA CAT A,G 8.238e-06 17:82965732 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant -0.825916 0.23278 0.0239 0.615465 0.200336042186892 0 2.14222358700744e-11 FALSE NA ENSE00001320368_036 ENSE00001320368 036 17 80923495 80923664 - 32 96 42 G A 80923614 3739 51 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACTTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965737 82965738 82965738 exon 9 0.09375 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACTTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 205 359 1 1 1 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064988940830622 0.00175423039223921 NA 0.966628414388569 NA 0.0333715856114306 NA FALSE NA 1 0.802 . 5_prime_UTR_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 3/10 1 NA AGG G,A 1.648e-05 17:82965738 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 synonymous_variant -0.12574 0.9599 0.69268 0.615465 0.449222410395622 0 2.14222358700744e-11 FALSE NA ENSE00001320368_037 ENSE00001320368 037 17 80923495 80923664 - 32 96 42 C T 80923623 3740 42 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAAGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965746 82965747 82965747 upstr_intron -1 0 CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAAGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 55 591 0 0 0 NA NA 0.935011059169378 0.998245769607761 NA NA -0.935011059169378 -0.998245769607761 NA 0.966628414388569 NA -0.966628414388569 NA TRUE NA 1 6.05 . splice_acceptor_variant&NMD_transcript_variant HIGH B3GNTL1 HGNC 21727 ENST00000572977 2/9 1 NA CCT C,T 8.24e-06 17:82965747 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 splice_acceptor_variant 3.891165 0.99081 0.97977 0.162113 0.987430815463615 0.977501 2.14222358700744e-11 FALSE 4.21806e-06 ENSE00001320368_043 ENSE00001320368 043 17 80923495 80923664 - 32 96 42 C T 80923652 3746 13 CTGTTCTTTTCCACTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 82965775 82965776 82965776 upstr_intron -30 -0.69047619047619 CTGTTCTTTTCCACTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC mutant NA NA NA NA NA 220 271 0.999302724858419 1 0.999651362429209 NA NA 0.935011059169378 0.998245769607761 NA NA 0.064291665689041 0.00175423039223921 NA 0.966628414388569 NA 0.0330229480406401 NA FALSE NA 0 -0.318 . intron_variant&NMD_transcript_variant MODIFIER B3GNTL1 HGNC 21727 ENST00000572977 2/9 rs369237671 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0036 T:0.0001 GCG C,T 0.0002561 17:82965776 B3GNTL1 HGNC Symbol protein_coding 109655 ENSG00000175711 ENSE00003594199 intron_variant 0.158664 0.14114 0.00798 0.078448 0.611350729910053 0.190344 2.14222358700744e-11 FALSE 0.000303868 ENSE00001320368_BRK ENSE00001320368 BRK 17 80923495 80923664 - 32 96 42 A,G; T,T NA NA NA CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTTTGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGCCAAGGGCCGAAGGCGGGAATCAGGTCCCTCC 82965618 82965788 NA NA NA NA NA NA CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTTTGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGCCAAGGGCCGAAGGCGGGAATCAGGTCCCTCC CTGTTCTTTTCCGCTAACTCTGTCAACGTTAATTGCTTCTAGGTTTTCACCTCAAATGGCCCCACGGTGATCATGCCCACCTGGTTCTGCTCGCGAGCGTGGTTCTCCCACGTGGGCCCCTTTAACGAGGGAGGTCAGGTAAGGGCCGAAGGCGGGAATCAGGTCCCTCC control 41 59 0.0927123694915097 0 0.0463561847457549 NA NA NA NA NA NA NA 0.935011059169378 0.998245769607761 NA NA NA NA NA 0.966628414388569 NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B3GNTL1 NA NA NA ENSG00000175711 ENSE00003594199 NA NA NA NA NA NA NA 2.14222358700744e-11 FALSE NA ENSE00001320651_000 ENSE00001320651 000 11 65977788 65977957 + 45 90 35 NA NA NA NA NA CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 NA NA NA NA NA NA CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT natural 113 136 0.998963533478208 0.986176619669744 0.992570076573976 3804 5539 0.973737459696845 0.985210516399188 0.979473988048017 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 0 0 0 0 0.992570076573976 0.979473988048017 0 0 0 FALSE FALSE NA NA NA NA NA PACS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PACS1 NA NA NA ENSG00000175115 ENSE00003683210 NA NA NA NA NA NA NA 0.999906351685189 TRUE NA ENSE00001320651_001 ENSE00001320651 001 11 65977788 65977957 + 45 90 35 C A 65977798 1832 11 CAAGCCACTGAACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210326 66210327 66210327 upstr_intron -35 -0.755555555555556 CAAGCCACTGAACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 252 375 0.999391349962339 1 0.99969567498117 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0256538902654939 0.0147894836008121 0.992570076573976 0.979473988048017 NA 0.020221686933153 NA FALSE NA 0.001 -0.391 . intron_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 2/6 1 NA GCA C,A 8.237e-06 11:66210327 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 intron_variant 1.006509 0.0719 0.00165 0.295142 0.870666826652653 0.0476178 0.999906351685189 TRUE 8.15674e-06 ENSE00001320651_002 ENSE00001320651 002 11 65977788 65977957 + 45 90 35 C G 65977800 1833 13 CAAGCCACTGCAGCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210328 66210329 66210329 upstr_intron -33 -0.711111111111111 CAAGCCACTGCAGCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 48 497 0.955692435266875 1 0.977846217633437 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA -0.0180450244299706 0.0147894836008121 0.992570076573976 0.979473988048017 NA -0.00162777041457923 NA FALSE NA 0 0.189 . intron_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 2/6 1 NA ACC C,G 1.647e-05 11:66210329 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 intron_variant 0.894536 0.07782 0.00598 0.295142 0.824506013734938 0.0476178 0.999906351685189 TRUE 4.07538e-06 ENSE00001320651_003 ENSE00001320651 003 11 65977788 65977957 + 45 90 35 G C 65977812 1834 25 CAAGCCACTGCACCTGGCCAAACACACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210340 66210341 66210341 upstr_intron -21 -0.444444444444444 CAAGCCACTGCACCTGGCCAAACACACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 1015 1087 0.996829956450755 0.999074804049103 0.997952380249929 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0230924967539096 0.0138642876499155 0.992570076573976 0.979473988048017 NA 0.0184783922019126 NA FALSE NA 0.019 0.276 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:66210341 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 intron_variant 0.827009 0.21385 0.00647 0.295142 0.812031554818424 0.0476178 0.999906351685189 TRUE 4.0665e-05 ENSE00001320651_004 ENSE00001320651 004 11 65977788 65977957 + 45 90 35 G A 65977812 1835 25 CAAGCCACTGCACCTGGCCAAACAAACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210340 66210341 66210341 upstr_intron -21 -0.444444444444444 CAAGCCACTGCACCTGGCCAAACAAACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant 12 14 1 1 1 404 4474 0.994952207878784 0.999479298928547 0.997215753403666 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 0.00103646652179179 0.0138233803302559 0.0212147481819388 0.014268782529359 0.992570076573976 0.979473988048017 0.00742992342602383 0.0177417653556489 0.0103118419296251 FALSE FALSE 0.019 0.276 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PACS1 NA NA NA ENSG00000175115 ENSE00003683210 intron_variant 1.133263 0.20222 0.00546 0.295142 0.852976846154001 0.0476178 0.999906351685189 TRUE 4.0665e-06 ENSE00001320651_005 ENSE00001320651 005 11 65977788 65977957 + 45 90 35 T C 65977818 1836 31 CAAGCCACTGCACCTGGCCAAACAGACTTTCCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210346 66210347 66210347 upstr_intron -15 -0.311111111111111 CAAGCCACTGCACCTGGCCAAACAGACTTTCCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 102 648 1 0.999587830680243 0.999793915340121 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0262625403031546 0.014377314281055 0.992570076573976 0.979473988048017 NA 0.0203199272921048 NA FALSE NA 0.125 0.113 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:66210347 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 intron_variant 1.059358 0.22747 0.01629 0.295142 0.78322612764368 0.0476178 0.999906351685189 TRUE 0.0043163 ENSE00001320651_006 ENSE00001320651 006 11 65977788 65977957 + 45 90 35 T A 65977818 1837 31 CAAGCCACTGCACCTGGCCAAACAGACTTTACTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210346 66210347 66210347 upstr_intron -15 -0.311111111111111 CAAGCCACTGCACCTGGCCAAACAGACTTTACTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 170 249 1 0.999847015292821 0.99992350764641 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0262625403031546 0.0146364988936328 0.992570076573976 0.979473988048017 NA 0.0204495195983937 NA FALSE NA 0.125 0.113 NA NA NA PACS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PACS1 NA NA NA ENSG00000175115 ENSE00003683210 intron_variant 1.351804 0.28171 0.08002 0.295142 0.802104691739887 0.0476178 0.999906351685189 TRUE 4.06431e-06 ENSE00001320651_007 ENSE00001320651 007 11 65977788 65977957 + 45 90 35 C T 65977822 1838 35 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTTTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210350 66210351 66210351 upstr_intron -11 -0.222222222222222 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTTTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 292 308 0.991130061934623 0.980908386496474 0.986019224215549 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0173926022377776 -0.00430212990271372 0.992570076573976 0.979473988048017 NA 0.00654523616753194 NA FALSE NA 0 0.662 . intron_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 2/6 1 NA TCT C,T 8.236e-06 11:66210351 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 intron_variant 1.246414 0.25852 0.10919 0.295142 0.767593425913833 0.0945619 0.999906351685189 TRUE 4.06372e-06 ENSE00001320651_008 ENSE00001320651 008 11 65977788 65977957 + 45 90 35 C T 65977851 1839 64 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTTGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210379 66210380 66210380 exon 19 0.211111111111111 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTTGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 712 115 1 0.998622262094079 0.99931113104704 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0262625403031546 0.0134117456948916 0.992570076573976 0.979473988048017 NA 0.0198371429990231 NA FALSE NA 1 0.986 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/7 rs538219005&COSM1298443 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCG C,T 8.236e-06 11:66210380 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 missense_variant 7.673899 0.9811 0.9433 0.706298 0.999281096298324 0 0.999906351685189 TRUE 4.06091e-06 ENSE00001320651_009 ENSE00001320651 009 11 65977788 65977957 + 45 90 35 A G 65977858 1840 71 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAGCGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210386 66210387 66210387 exon 26 0.288888888888889 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAGCGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant 12 10 1 0.997864193424246 0.998932096712123 1257 148 0.999606464150402 0.997386422530821 0.998496443340611 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 0.00103646652179179 0.0116875737545018 0.0258690044535563 0.0121759061316329 0.992570076573976 0.979473988048017 0.0063620201381468 0.0190224552925946 0.0126604351544478 FALSE FALSE 1 9.079 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/7 1 NA AAC A,G 8.236e-06 11:66210387 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 missense_variant 4.602838 0.99217 0.99516 0.706298 0.995572155215476 0 0.999906351685189 TRUE 4.06085e-06 ENSE00001320651_010 ENSE00001320651 010 11 65977788 65977957 + 45 90 35 C T 65977859 1841 72 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAATGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210387 66210388 66210388 exon 27 0.3 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAATGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 396 331 1 1 1 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0262625403031546 0.0147894836008121 0.992570076573976 0.979473988048017 NA 0.0205260119519833 NA FALSE NA 0.434 -0.241 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/7 COSM269813 1 NA ACG C,T 1.647e-05 11:66210388 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 synonymous_variant 2.170959 0.93478 0.1539 0.706298 0.680524373707857 0 0.999906351685189 TRUE 1.21825e-05 ENSE00001320651_011 ENSE00001320651 011 11 65977788 65977957 + 45 90 35 G A 65977860 1842 73 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACAAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210388 66210389 66210389 exon 28 0.311111111111111 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACAAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 1405 61 0.999794785111934 0.997398427262938 0.998596606187436 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.026057325415089 0.0121879108637498 0.992570076573976 0.979473988048017 NA 0.0191226181394194 NA FALSE NA 1 9.592 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/7 1 NA CGA G,A 8.236e-06 11:66210389 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 missense_variant 7.601089 0.99402 0.99496 0.706298 0.999319520260976 0 0.999906351685189 TRUE 4.06075e-06 ENSE00001320651_012 ENSE00001320651 012 11 65977788 65977957 + 45 90 35 C T 65977865 1843 78 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATTGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210393 66210394 66210394 exon 33 0.366666666666667 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATTGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant 29 26 0.999401992840844 0.993409009348763 0.996405501094804 261 1282 0.988933095907241 0.997434996899677 0.993184046403459 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 0.000438459362636201 0.00723238967901862 0.0151956362103954 0.0122244805004893 0.992570076573976 0.979473988048017 0.00383542452082741 0.0137100583554424 0.00987463383461495 FALSE FALSE 0.039 0.49 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/7 1 NA TCG C,T 8.236e-06 11:66210394 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 synonymous_variant 2.499796 0.95674 0.33928 0.706298 0.757929886689882 0 0.999906351685189 TRUE 8.12143e-06 ENSE00001320651_013 ENSE00001320651 013 11 65977788 65977957 + 45 90 35 T C 65977871 1844 84 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTCCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210399 66210400 66210400 exon 39 0.433333333333333 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTCCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 294 331 0.8906067192712 0.997072820565696 0.943839769918448 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA -0.0831307404256458 0.0118623041665082 0.992570076573976 0.979473988048017 NA -0.0356342181295688 NA FALSE NA 0.826 -0.242 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/7 1 NA TTC T,C 1.647e-05 11:66210400 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 synonymous_variant 0.514349 0.96265 0.67928 0.706298 0.743416212250036 0 0.999906351685189 TRUE 1.21818e-05 ENSE00001320651_014 ENSE00001320651 014 11 65977788 65977957 + 45 90 35 A C 65977874 1845 87 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCCGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210402 66210403 66210403 exon 42 0.466666666666667 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCCGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 1563 2132 0.9989197755827 0.985429260650287 0.992174518116494 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0251823158858547 0.000218744251099245 0.992570076573976 0.979473988048017 NA 0.012700530068477 NA FALSE NA 0 -1.108 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/7 1 NA CAG A,C 8.236e-06 11:66210403 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 synonymous_variant 0.24871 0.16237 0.07192 0.706298 0.639229124865249 0 0.999906351685189 TRUE 4.06058e-06 ENSE00001320651_015 ENSE00001320651 015 11 65977788 65977957 + 45 90 35 T C 65977935 1846 148 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCCAATCTTAGGCCCCTAACATGCT 66210316 66210486 66210463 66210464 66210464 downstr_intron 13 1.38235294117647 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCCAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 1122 656 0.992776850180731 0.984751187704813 0.988764018942772 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.019039390483886 -0.000459328694375261 0.992570076573976 0.979473988048017 NA 0.00929003089475539 NA FALSE NA 0 0.336 rs138009664 intron_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/6 rs138009664 1 C:0.0026 C:0.0091 C:0.0014 NA C:0 C:0 C:0 C:0.0148 C:0 CTA T,C 0.001326 11:66210464 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 intron_variant 0.080389 0.26106 0.08981 0.099367 0.510780951873563 0.0476178 0.999906351685189 TRUE 0.000929972 ENSE00001320651_016 ENSE00001320651 016 11 65977788 65977957 + 45 90 35 G A 65977944 1847 157 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGACCCCTAACATGCT 66210316 66210486 66210472 66210473 66210473 downstr_intron 22 1.64705882352941 CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGACCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT mutant NA NA NA NA NA 221 483 1 0.999921168779989 0.999960584389995 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 NA NA 0.0262625403031546 0.0147106523808013 0.992570076573976 0.979473988048017 NA 0.0204865963419779 NA FALSE NA 0 -0.554 . intron_variant&non_coding_transcript_variant MODIFIER PACS1 HGNC 30032 ENST00000527224 3/6 1 NA GGC G,A 8.236e-06 11:66210473 PACS1 HGNC Symbol protein_coding 174384 ENSG00000175115 ENSE00003683210 intron_variant 0.319521 0.17026 0.0168 0.099367 0.569627310337828 0.0476178 0.999906351685189 TRUE 4.0618e-06 ENSE00001320651_BRK ENSE00001320651 BRK 11 65977788 65977957 + 45 90 35 A,G; T,T NA NA NA CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCTTGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGCCGAGACTCTCCTAATCTTAGGCCCCTAACATGCT 66210316 66210486 NA NA NA NA NA NA CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCTTGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGCCGAGACTCTCCTAATCTTAGGCCCCTAACATGCT CAAGCCACTGCACCTGGCCAAACAGACTTTTCTTCTTGGTTTCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTCTCCCTTCAGGTGAGACTCTCCTAATCTTAGGCCCCTAACATGCT control 22 66 0 0 0 NA NA NA NA NA 0.998963533478208 0.986176619669744 0.973737459696845 0.985210516399188 -0.998963533478208 -0.986176619669744 NA NA 0.992570076573976 0.979473988048017 -0.992570076573976 NA NA NA TRUE NA NA NA NA NA PACS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PACS1 NA NA NA ENSG00000175115 ENSE00003683210 NA NA NA NA NA NA NA 0.999906351685189 TRUE NA ENSE00001320758_000 ENSE00001320758 000 17 79564227 79564396 - 44 72 54 NA NA NA NA NA CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 NA NA NA NA NA NA CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT natural 53 141 0.948765674093892 0.929466323983071 0.939115999038481 2326 1890 0.976829734640305 0.972854425028832 0.974842079834568 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 0 0 0 0 0.939115999038481 0.974842079834568 0 0 0 FALSE FALSE NA NA NA NA NA NPLOC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPLOC4 NA NA NA ENSG00000182446 ENSE00003689881 NA NA NA NA NA NA NA 0.998697457532177 TRUE NA ENSE00001320758_003 ENSE00001320758 003 17 79564227 79564396 - 44 72 54 A C 79564244 3462 153 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGGGGCCCTATGGCTTGGTT 81597200 81597370 81597217 81597218 81597218 downstr_intron 27 1.62790697674419 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGGGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 402 1313 0.99693624190149 0.995414170867195 0.996175206384343 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA 0.0201065072611857 0.0225597458383632 0.939115999038481 0.974842079834568 NA 0.0213331265497744 NA FALSE NA 0 -1.057 . intron_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/3 rs35880908 1 NA CAC A,C 8.259e-06 17:81597218 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 intron_variant -0.009739 0.13354 0.0176 0.139865 0.369016061276509 0.0455939 0.998697457532177 TRUE 4.07083e-06 ENSE00001320758_004 ENSE00001320758 004 17 79564227 79564396 - 44 72 54 C T 79564245 3463 152 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTATGGCCCTATGGCTTGGTT 81597200 81597370 81597218 81597219 81597219 downstr_intron 26 1.6046511627907 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTATGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant 33 184 0.85 0.85 0.85 NA NA NA NA NA 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.0987656740938918 -0.0794663239830706 NA NA 0.939115999038481 0.974842079834568 -0.0891159990384812 NA NA NA FALSE 0 -1.12 . intron_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/3 1 NA ACA C,T 8.26e-06 17:81597219 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 intron_variant -0.023264 0.14014 0.01545 0.139865 0.638614958646152 0.0455939 0.998697457532177 TRUE 4.07163e-06 ENSE00001320758_005 ENSE00001320758 005 17 79564227 79564396 - 44 72 54 C T 79564247 3464 150 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCATGTGGCCCTATGGCTTGGTT 81597200 81597370 81597220 81597221 81597221 downstr_intron 24 1.55813953488372 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCATGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 4758 179 0.936384618287441 0.95555861851449 0.945971618400965 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA -0.040445116352864 -0.0172958065143417 0.939115999038481 0.974842079834568 NA -0.0288704614336028 NA FALSE NA 0 -2.44 . intron_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/3 rs372219665 1 NA T:0.0005 T:0 ACG C,T 8.26e-05 17:81597221 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 intron_variant 0.016022 0.12209 0.00721 0.139865 0.623748497558865 0.0455939 0.998697457532177 TRUE 8.55e-05 ENSE00001320758_006 ENSE00001320758 006 17 79564227 79564396 - 44 72 54 G A 79564248 3465 149 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGTGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597221 81597222 81597222 downstr_intron 23 1.53488372093023 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGTGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 1733 161 0.995037201165477 0.997816775478318 0.996426988321898 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA 0.018207466525172 0.0249623504494866 0.939115999038481 0.974842079834568 NA 0.0215849084873293 NA FALSE NA 0 -0.585 . intron_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/3 rs202045831 1 A:0.0010 A:0 A:0.0014 NA A:0 A:0.004 A:0 A:0.0002 A:0.0014 CGC G,A 0.0007434 17:81597222 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 intron_variant 0.095397 0.12569 0.01217 0.139865 0.633922020642602 0.0455939 0.998697457532177 TRUE NA ENSE00001320758_008 ENSE00001320758 008 17 79564227 79564396 - 44 72 54 C G 79564265 3467 132 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGCTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597238 81597239 81597239 downstr_intron 6 1.13953488372093 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGCTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 177 277 1 0.992881620134821 0.99644081006741 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA 0.0231702653596952 0.0200271951059886 0.939115999038481 0.974842079834568 NA 0.0215987302328419 NA FALSE NA 0 -0.487 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NPLOC4 HGNC 18261 ENST00000572351 1/3 rs368307791 1 NA G:0 G:0.0001 ACC C,G 1.653e-05 17:81597239 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 splice_region_variant 1.03741 0.31468 0.04336 0.139865 0.704748881575025 0.143096 0.998697457532177 TRUE 4.06514e-06 ENSE00001320758_009 ENSE00001320758 009 17 79564227 79564396 - 44 72 54 C T 79564266 3468 131 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAAGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597239 81597240 81597240 downstr_intron 5 1.11627906976744 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAAGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant 459 68 0 0 0 NA NA NA NA NA 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.948765674093892 -0.929466323983071 NA NA 0.939115999038481 0.974842079834568 -0.939115999038481 NA NA NA TRUE 1 5.137 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW NPLOC4 HGNC 18261 ENST00000572351 1/3 1 NA CCT C,T 8.263e-06 17:81597240 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 splice_region_variant 2.753934 0.9943 0.88072 0.139865 0.984975683668308 0.981064 0.998697457532177 TRUE 4.06527e-06 ENSE00001320758_010 ENSE00001320758 010 17 79564227 79564396 - 44 72 54 T C 79564282 3469 115 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACGGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597255 81597256 81597256 exon -12 0.847222222222222 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACGGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant 10 24 0.85 0.934498391593096 0.892249195796548 NA NA NA NA NA 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.0987656740938917 0.00503206761002495 NA NA 0.939115999038481 0.974842079834568 -0.0468668032419334 NA NA NA FALSE 1 3.675 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/4 1 NA CTG T,C 1.654e-05 17:81597256 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 missense_variant 3.21029 0.98552 0.95343 0.722319 0.991197913797036 0 0.998697457532177 TRUE 8.12968e-06 ENSE00001320758_011 ENSE00001320758 011 17 79564227 79564396 - 44 72 54 G A 79564283 3470 114 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTATAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597256 81597257 81597257 exon -13 0.833333333333333 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTATAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant 39 95 0 0.0416840060971644 0.0208420030485822 543 65 0.00180486155178029 0 0.000902430775890147 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.948765674093892 -0.887782317885906 -0.975024873088524 -0.972854425028832 0.939115999038481 0.974842079834568 -0.918273995989899 -0.973939649058678 0.0556656530687794 TRUE TRUE 1 3.706 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/4 1 NA TGT G,A 1.654e-05 17:81597257 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 synonymous_variant 0.75868 0.97657 0.94683 0.722319 0.626512634585706 0 0.998697457532177 TRUE 4.06481e-06 ENSE00001320758_012 ENSE00001320758 012 17 79564227 79564396 - 44 72 54 C T 79564291 3471 106 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCATCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597264 81597265 81597265 exon -21 0.722222222222222 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCATCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 306 1669 0.965214717708811 0.959102037511381 0.962158377610096 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA -0.0116150169314938 -0.0137523875174508 0.939115999038481 0.974842079834568 NA -0.0126837022244723 NA FALSE NA 1 7.316 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/4 COSM283341 1 NA ACG C,T 8.27e-06 17:81597265 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 missense_variant 7.536271 0.99538 0.98958 0.722319 0.999116925341722 0 0.998697457532177 TRUE 4.06484e-06 ENSE00001320758_013 ENSE00001320758 013 17 79564227 79564396 - 44 72 54 G A 79564292 3472 105 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACTGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597265 81597266 81597266 exon -22 0.708333333333333 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACTGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant 40 22 0.536806421418339 0.368397064176214 0.452601742797276 180 617 0.789703031469188 0.800936243005459 0.795319637237323 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.411959252675553 -0.561069259806857 -0.187126703171117 -0.171918182023373 0.939115999038481 0.974842079834568 -0.486514256241205 -0.179522442597245 0.30699181364396 FALSE FALSE 0.001 -1.974 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/4 rs200752877 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0001 CGG G,A 7.443e-05 17:81597266 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 synonymous_variant 1.979638 0.60221 0.05628 0.722319 0.777653744011093 0 0.998697457532177 TRUE 9.34921e-05 ENSE00001320758_015 ENSE00001320758 015 17 79564227 79564396 - 44 72 54 T C 79564301 3474 96 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGGAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597274 81597275 81597275 exon -31 0.583333333333333 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGGAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 966 132 0.99868556473417 1 0.999342782367085 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA 0.0218558300938656 0.0271455749711681 0.939115999038481 0.974842079834568 NA 0.0245007025325168 NA FALSE NA 0.064 -0.657 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/4 rs371355414 1 NA C:0.0002 C:0 TTC T,C 8.273e-06 17:81597275 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 synonymous_variant 0.611891 0.95964 0.0797 0.722319 0.713515328259546 0 0.998697457532177 TRUE 4.06474e-06 ENSE00001320758_016 ENSE00001320758 016 17 79564227 79564396 - 44 72 54 G T 79564304 3475 93 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACACGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597277 81597278 81597278 exon -34 0.541666666666667 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACACGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 71 43 0.999418928706631 1 0.999709464353315 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA 0.0225891940663258 0.0271455749711681 0.939115999038481 0.974842079834568 NA 0.0248673845187469 NA FALSE NA 0.94 -0.079 rs62074671 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1/4 rs62074671 1 T:0.0689 T:0.0938 T:0.0648 NA T:0.001 T:0.1262 T:0.0491 T:0.0968 T:0.1079 GGG G,T 0.085 17:81597278 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 synonymous_variant 1.286557 0.96892 0.69969 0.722319 0.598384652000968 0 0.998697457532177 TRUE 0.0837832 ENSE00001320758_021 ENSE00001320758 021 17 79564227 79564396 - 44 72 54 G C 79564354 3480 43 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTGCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597327 81597328 81597328 upstr_intron -12 -0.203703703703704 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTGCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant 44 39 0.85 0.85 0.85 553 151 0.838349944365565 0.851351822885844 0.844850883625705 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.0987656740938917 -0.0794663239830706 -0.13847979027474 -0.121502602142987 0.939115999038481 0.974842079834568 -0.0891159990384812 -0.129991196208864 0.0408751971703826 FALSE FALSE 0.007 -0.203 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:81597328 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 intron_variant 1.614206 0.22962 0.09202 0.099367 0.840697008565477 0.145614 0.998697457532177 TRUE 4.06537e-06 ENSE00001320758_022 ENSE00001320758 022 17 79564227 79564396 - 44 72 54 G A 79564354 3481 43 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTTCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597327 81597328 81597328 upstr_intron -12 -0.203703703703704 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTTCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 392 232 0.998201492419319 0.987069461919555 0.992635477169437 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA 0.0213717577790146 0.0142150368907229 0.939115999038481 0.974842079834568 NA 0.0177933973348687 NA FALSE NA 0.007 -0.203 NA NA NA NPLOC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPLOC4 NA NA NA ENSG00000182446 ENSE00003689881 intron_variant 1.992807 0.22673 0.04441 0.099367 0.889355370865988 0.145614 0.998697457532177 TRUE 4.06537e-06 ENSE00001320758_023 ENSE00001320758 023 17 79564227 79564396 - 44 72 54 G C 79564358 3482 39 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTAGTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597331 81597332 81597332 upstr_intron -16 -0.277777777777778 CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTAGTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant 195 94 0 0 0 160 93 0 0 0 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.948765674093892 -0.929466323983071 -0.976829734640305 -0.972854425028832 0.939115999038481 0.974842079834568 -0.939115999038481 -0.974842079834568 0.0357260807960871 TRUE TRUE 0 -0.106 rs145670940 upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 rs145670940 1 C:0.0008 C:0.0008 C:0 NA C:0 C:0.003 C:0 C:0.0018 C:0.0053 AGT G,C 0.003211 17:81597332 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 intron_variant 0.333135 0.22728 0.15493 0.099367 0.631339663776008 0.132075 0.998697457532177 TRUE 0.00313072 ENSE00001320758_025 ENSE00001320758 025 17 79564227 79564396 - 44 72 54 A G 79564382 3484 15 CCATTCATCGTCTACCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597355 81597356 81597356 upstr_intron -40 -0.722222222222222 CCATTCATCGTCTACCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant 11 18 0.85 0.85 0.85 NA NA NA NA NA 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.0987656740938917 -0.0794663239830706 NA NA 0.939115999038481 0.974842079834568 -0.0891159990384812 NA NA NA FALSE 0 -0.232 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1 NA GAT A,G 8.275e-06 17:81597356 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 intron_variant 0.22479 0.27915 0.02988 0.099367 0.587463502182728 0.046875 0.998697457532177 TRUE 4.07418e-06 ENSE00001320758_026 ENSE00001320758 026 17 79564227 79564396 - 44 72 54 T C 79564383 3485 14 CCATTCATCGTCTGTCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 81597356 81597357 81597357 upstr_intron -41 -0.740740740740741 CCATTCATCGTCTGTCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT mutant NA NA NA NA NA 102 27 0.980158288507943 0.998577913382338 0.989368100945141 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 NA NA 0.00332855386763831 0.0257234883535066 0.939115999038481 0.974842079834568 NA 0.0145260211105724 NA FALSE NA 0.001 -0.063 . upstream_gene_variant MODIFIER NPLOC4 HGNC 18261 ENST00000572351 1 NA ATA T,C 4.137e-05 17:81597357 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003689881 intron_variant -0.049708 0.06634 0.00094 0.099367 0.472150292609087 0.046875 0.998697457532177 TRUE 2.852e-05 ENSE00001320758_BRK ENSE00001320758 BRK 17 79564227 79564396 - 44 72 54 A,G; T,T NA NA NA CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTATTGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGCCGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT 81597200 81597370 NA NA NA NA NA NA CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTATTGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGCCGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT CCATTCATCGTCTATCTTGAGGAGATGTTTAAAAGCTACTTTCCTTTTTTTAAGGTTGGCTGGATATTTACAGACCTCGTCTCAGAAGATACCCGAAAGGGTACCGTCCGCTACAGTCGAAATAAGGTGAGGTGGAGACAGGACTGTGCGTGTGGCCCTATGGCTTGGTT control 408 97 0.0629156525351413 0.178383897069427 0.120649774802284 NA NA NA NA NA 0.948765674093892 0.929466323983071 0.976829734640305 0.972854425028832 -0.88585002155875 -0.751082426913644 NA NA 0.939115999038481 0.974842079834568 -0.818466224236197 NA NA NA TRUE NA NA NA NA NA NPLOC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPLOC4 NA NA NA ENSG00000182446 ENSE00003689881 NA NA NA NA NA NA NA 0.998697457532177 TRUE NA ENSE00001320954_000 ENSE00001320954 000 18 44585886 44586055 + 41 99 30 NA NA NA NA NA TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 NA NA NA NA NA NA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA natural NA NA NA NA NA 1399 2717 0.996092925910051 0.833156645737574 0.914624785823812 NA NA 0.996092925910051 0.833156645737574 NA NA 0 0 NA 0.914624785823812 NA 0 NA FALSE NA NA NA NA NA NA KATNAL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KATNAL2 NA NA NA ENSG00000167216 ENSE00001320954 NA NA NA NA NA NA NA 0.000125861969085373 FALSE NA ENSE00001320954_001 ENSE00001320954 001 18 44585886 44586055 + 41 99 30 C T 44585898 426 13 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGACTGTGAGCAGCC 47059514 47059684 47059526 47059527 47059527 upstr_intron -29 -0.682926829268293 GGCTGCTCACAGTCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 748 233 0.99922719276364 0.999320627761045 0.999273910262342 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00313426685358864 0.166163982023471 NA 0.914624785823812 NA 0.0846491244385299 NA FALSE NA 0 0.413 . intron_variant MODIFIER KATNAL2 HGNC 25387 ENST00000588433 1/9 1 NA GCC C,T 8.236e-06 18:47059527 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 intron_variant 0.327777 0.23003 0.11291 0.074636 0.479963598200128 0.0443366 0.000125861969085373 FALSE 4.07004e-06 ENSE00001320954_003 ENSE00001320954 003 18 44585886 44586055 + 41 99 30 G A 44585900 428 15 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATTGGCTGTGAGCAGCC 47059514 47059684 47059528 47059529 47059529 upstr_intron -27 -0.634146341463415 GGCTGCTCACAGCCAATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 516 49 1 0.96040801211963 0.980204006059815 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00390707408994906 0.127251366382056 NA 0.914624785823812 NA 0.0655792202360028 NA FALSE NA 0 -0.05 . intron_variant MODIFIER KATNAL2 HGNC 25387 ENST00000588433 1/9 1 NA CGA G,A 4.118e-05 18:47059529 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 intron_variant -0.614972 0.1526 0.01285 0.074636 0.750644856308284 0.0443366 0.000125861969085373 FALSE 2.44119e-05 ENSE00001320954_004 ENSE00001320954 004 18 44585886 44586055 + 41 99 30 A G 44585901 429 16 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACACCGGCTGTGAGCAGCC 47059514 47059684 47059529 47059530 47059530 upstr_intron -26 -0.609756097560976 GGCTGCTCACAGCCGGTGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 111 29 1 1 1 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00390707408994906 0.166843354262426 NA 0.914624785823812 NA 0.0853752141761876 NA FALSE NA 0.001 0.193 . intron_variant MODIFIER KATNAL2 HGNC 25387 ENST00000588433 1/9 rs201744921 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0001 GAT A,G 0.0002965 18:47059530 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 intron_variant 0.26794 0.20395 0.07476 0.074636 0.232374978241702 0.0443366 0.000125861969085373 FALSE 0.00041483 ENSE00001320954_009 ENSE00001320954 009 18 44585886 44586055 + 41 99 30 G A 44585933 434 48 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAATTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059561 47059562 47059562 exon 7 0.0707070707070707 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAATTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 152 14 1 1 1 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00390707408994906 0.166843354262426 NA 0.914624785823812 NA 0.0853752141761876 NA FALSE NA 0.018 1.73 rs138575668 missense_variant MODERATE KATNAL2 HGNC 25387 ENST00000588433 2/10 rs138575668 1 tolerated_low_confidence(0.19) benign(0.002) NA A:0.0002 A:0 AGT G,A 8.236e-06 18:47059562 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 missense_variant 0.195481 0.26356 0.08661 0.693126 0.902513497145268 0 0.000125861969085373 FALSE 8.12955e-06 ENSE00001320954_013 ENSE00001320954 013 18 44585886 44586055 + 41 99 30 G A 44585946 438 61 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGTGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059574 47059575 47059575 exon 20 0.202020202020202 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCACCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 45 276 1 1 1 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00390707408994906 0.166843354262426 NA 0.914624785823812 NA 0.0853752141761876 NA FALSE NA 0 -1.648 rs148023825 missense_variant MODERATE KATNAL2 HGNC 25387 ENST00000588433 2/10 rs148023825 1 tolerated_low_confidence(0.55) benign(0.001) A:0.0006 A:0 A:0.0014 NA A:0 A:0.002 A:0 A:0 A:0.0009 CGC G,A 0.0004777 18:47059575 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 missense_variant 0.477358 0.15746 0.00532 0.693126 0.893307712695933 0 0.000125861969085373 FALSE 0.000439024 ENSE00001320954_015 ENSE00001320954 015 18 44585886 44586055 + 41 99 30 C G 44585948 440 63 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCACGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059576 47059577 47059577 exon 22 0.222222222222222 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCGTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 20 650 1 0.999647931569634 0.999823965784817 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00390707408994906 0.16649128583206 NA 0.914624785823812 NA 0.0851991799610046 NA FALSE NA 0 -2.771 . missense_variant MODERATE KATNAL2 HGNC 25387 ENST00000588433 2/10 1 tolerated_low_confidence(0.78) benign(0.001) NA CCT C,G 8.236e-06 18:47059577 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 missense_variant -1.962792 0.12307 0.00552 0.693126 0.509249094007823 0 0.000125861969085373 FALSE NA ENSE00001320954_021 ENSE00001320954 021 18 44585886 44586055 + 41 99 30 T G 44585974 446 89 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATCTGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059602 47059603 47059603 exon 48 0.484848484848485 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACAGATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 181 49 0.999772411500824 1 0.999886205750412 NA NA 0.996092925910051 0.833156645737574 NA NA 0.0036794855907728 0.166843354262426 NA 0.914624785823812 NA 0.0852614199265995 NA FALSE NA 0.508 -0.306 rs143102397 missense_variant MODERATE KATNAL2 HGNC 25387 ENST00000588433 2/10 rs143102397 1 tolerated_low_confidence(0.06) benign(0.004) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATA T,G 8.236e-06 18:47059603 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 missense_variant -1.43952 0.17697 0.08471 0.693126 0.662283261008733 0 0.000125861969085373 FALSE 8.12731e-06 ENSE00001320954_024 ENSE00001320954 024 18 44585886 44586055 + 41 99 30 G A 44585988 449 103 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTATGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059616 47059617 47059617 exon -38 0.626262626262626 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCATAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 116 328 1 1 1 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00390707408994906 0.166843354262426 NA 0.914624785823812 NA 0.0853752141761876 NA FALSE NA 0.037 -0.497 . missense_variant MODERATE KATNAL2 HGNC 25387 ENST00000588433 2/10 rs559393641 1 tolerated_low_confidence(0.21) benign(0.002) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGT G,A 2.471e-05 18:47059617 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 missense_variant 0.64683 0.35245 0.00539 0.693126 0.890003313921235 0 0.000125861969085373 FALSE 1.62529e-05 ENSE00001320954_026 ENSE00001320954 026 18 44585886 44586055 + 41 99 30 T C 44585998 451 113 TTCAGTGTTAGGTTCATGAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCGCTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059626 47059627 47059627 exon -28 0.727272727272727 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGCGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 530 442 0.999142727838245 1 0.999571363919123 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00304980192819437 0.166843354262426 NA 0.914624785823812 NA 0.0849465780953103 NA FALSE NA 0 -0.992 . synonymous_variant LOW KATNAL2 HGNC 25387 ENST00000588433 2/10 1 NA GTG T,C 8.237e-06 18:47059627 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 synonymous_variant -1.008931 0.16429 0.01713 0.693126 0.386789499339679 0 0.000125861969085373 FALSE 4.06309e-06 ENSE00001320954_033 ENSE00001320954 033 18 44585886 44586055 + 41 99 30 G A 44586030 458 145 TTCAGTGTTAGGTTCATGAGTTTCATTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059658 47059659 47059659 downstr_intron 5 1.17241379310345 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAATGAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 627 23 0.0122590749319533 0 0.00612953746597667 NA NA 0.996092925910051 0.833156645737574 NA NA -0.983833850978098 -0.833156645737574 NA 0.914624785823812 NA -0.908495248357836 NA TRUE NA 0.997 4.865 . splice_region_variant&intron_variant LOW KATNAL2 HGNC 25387 ENST00000588433 2/9 rs377333599 1 NA A:0 A:0.0001 AGT G,A 8.237e-06 18:47059659 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 splice_region_variant 0.917658 0.97018 0.89713 0.061011 0.752899358114686 0.955318 0.000125861969085373 FALSE 1.21968e-05 ENSE00001320954_034 ENSE00001320954 034 18 44585886 44586055 + 41 99 30 G A 44586032 459 147 TTCAGTGTTAGGTTCATGAGTTTTACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059660 47059661 47059661 downstr_intron 7 1.24137931034483 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTAAAACTCATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 428 45 1 1 1 NA NA 0.996092925910051 0.833156645737574 NA NA 0.00390707408994906 0.166843354262426 NA 0.914624785823812 NA 0.0853752141761876 NA FALSE NA 0.167 0.193 . splice_region_variant&intron_variant LOW KATNAL2 HGNC 25387 ENST00000588433 2/9 rs369685371 1 NA A:0 A:0.0001 TGA G,A 4.118e-05 18:47059661 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 splice_region_variant 0.285666 0.37887 0.0504 0.061011 0.412111124405106 0.0636712 0.000125861969085373 FALSE 2.44006e-05 ENSE00001320954_035 ENSE00001320954 035 18 44585886 44586055 + 41 99 30 C T 44586038 460 153 TTCAGTGTTAGGTTCATAAGTTTCACTTACTCTTCGTGGGTGGGCATTTTCCTCTCCACTGTCTTTACGGATTCTTGATATATGTAGGCCGAAGTTGGCACTTTCCAGGCGAGTGTTATCAACTACCTCCTGAAGAAAGAGAGACAAGGACACATCGGCTGTGAGCAGCC 47059514 47059684 47059666 47059667 47059667 downstr_intron 13 1.44827586206897 GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTTATGAACCTAACACTGAA GGCTGCTCACAGCCGATGTGTCCTTGTCTCTCTTTCTTCAGGAGGTAGTTGATAACACTCGCCTGGAAAGTGCCAACTTCGGCCTACATATATCAAGAATCCGTAAAGACAGTGGAGAGGAAAATGCCCACCCACGAAGAGTAAGTGAAACTCATGAACCTAACACTGAA mutant NA NA NA NA NA 159 77 0.994976094725996 0.997940486814577 0.996458290770287 NA NA 0.996092925910051 0.833156645737574 NA NA -0.00111683118405514 0.164783841077004 NA 0.914624785823812 NA 0.0818335049464742 NA FALSE NA 0 0.04 . intron_variant MODIFIER KATNAL2 HGNC 25387 ENST00000588433 2/9 1 NA TCA C,T 8.236e-06 18:47059667 KATNAL2 HGNC Symbol protein_coding 184751 ENSG00000167216 ENSE00001320954 intron_variant 0.244117 0.24852 0.05239 0.061011 0.355339446069438 0.0448725 0.000125861969085373 FALSE 4.07292e-06 ENSE00001321140_000 ENSE00001321140 000 15 22928078 22928247 + 51 78 41 NA NA NA NA NA TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 NA NA NA NA NA NA TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG natural 51 165 0.890520789007812 0.829908632963602 0.860214710985707 1106 914 0.924468278136966 0.829726861351679 0.877097569744323 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 0 0 0 0 0.860214710985707 0.877097569744323 0 0 0 FALSE FALSE NA NA NA NA NA CYFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA ENSG00000068793 NA NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001321140_001 ENSE00001321140 001 15 22928078 22928247 + 51 78 41 C T 22928091 1 14 TTCATGCTAGTTCTCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944976 22944977 22944977 upstr_intron -38 -0.725490196078431 TTCATGCTAGTTCTCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 233 259 0.991731800410354 0.942859553551147 0.967295676980751 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.0672635222733881 0.113132692199468 0.860214710985707 0.877097569744323 NA 0.090198107236428 NA FALSE NA 0 -0.066 . intron_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 4/5 rs370797667 1 NA T:0.0016 T:0 CCC C,T 0.0001153 15:22944975 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant 0.531974 0.11384 0.01381 0.160075 0.725796633257327 0.0878166 0.994933031618259 TRUE 9.77048e-05 ENSE00001321140_002 ENSE00001321140 002 15 22928078 22928247 + 51 78 41 C T 22928094 2 17 TTCATGCTAGTTCCCCTGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944973 22944974 22944974 upstr_intron -35 -0.666666666666667 TTCATGCTAGTTCCCCTGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 156 1729 0.984225093241323 0.956492030303317 0.97035856177232 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.0597568151043566 0.126765168951637 0.860214710985707 0.877097569744323 NA 0.0932609920279969 NA FALSE NA 0 -0.041 . intron_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 4/5 rs374619160 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 T:0.0005 T:0 CCG C,T 0.0004448 15:22944972 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant 0.323254 0.11558 0.0079 0.160075 0.742804289835542 0.0878166 0.994933031618259 TRUE 0.000415066 ENSE00001321140_003 ENSE00001321140 003 15 22928078 22928247 + 51 78 41 G A 22928095 3 18 TTCATGCTAGTTCCCCCACCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944972 22944973 22944973 upstr_intron -34 -0.647058823529412 TTCATGCTAGTTCCCCCACCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 100 104 0.979454635874639 0.844076152967348 0.911765394420993 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.0549863577376727 0.0143492916156681 0.860214710985707 0.877097569744323 NA 0.0346678246766704 NA FALSE NA 0 -3.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:22944971 CYFIP1 HGNC Symbol protein_coding 114011 NA NA intron_variant 0.125859 0.1599 0.02919 0.160075 0.738134574560709 0.0878166 0.994933031618259 TRUE 6.10352e-05 ENSE00001321140_004 ENSE00001321140 004 15 22928078 22928247 + 51 78 41 G C 22928095 4 18 TTCATGCTAGTTCCCCCCCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944972 22944973 22944973 upstr_intron -34 -0.647058823529412 TTCATGCTAGTTCCCCCCCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant 12 32 0.85 0.85 0.85 199 539 0.82631218171984 0.804204608560347 0.815258395140094 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 -0.0405207890078118 0.0200913670363982 -0.0981560964171269 -0.0255222527913319 0.860214710985707 0.877097569744323 -0.0102147109857068 -0.0618391746042294 0.0516244636185226 FALSE FALSE 0 -3.23 NA NA NA CYFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA ENSG00000068793 NA intron_variant -0.184345 0.16198 0.05472 0.160075 0.547609622435759 0.0878166 0.994933031618259 TRUE 4.06901e-06 ENSE00001321140_005 ENSE00001321140 005 15 22928078 22928247 + 51 78 41 C T 22928096 5 19 TTCATGCTAGTTCCCCCGTCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944971 22944972 22944972 upstr_intron -33 -0.627450980392157 TTCATGCTAGTTCCCCCGTCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 171 105 0.907974381605137 0.8 0.853987190802568 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.0164938965318298 -0.0297268613516793 0.860214710985707 0.877097569744323 NA -0.0231103789417546 NA FALSE NA 0 0.427 . intron_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 4/5 1 NA GCC C,T 8.236e-06 15:22944970 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant 0.602432 0.22375 0.04913 0.160075 0.756114053507169 0.0878166 0.994933031618259 TRUE 4.06858e-06 ENSE00001321140_006 ENSE00001321140 006 15 22928078 22928247 + 51 78 41 C T 22928101 6 24 TTCATGCTAGTTCCCCCGCCTGCTTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944966 22944967 22944967 upstr_intron -28 -0.529411764705882 TTCATGCTAGTTCCCCCGCCTGCTTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 668 179 0.887608518673778 0.973752554580216 0.930680536626997 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.0368597594631888 0.144025693228537 0.860214710985707 0.877097569744323 NA 0.0535829668826741 NA FALSE NA 0 -0.072 . intron_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 4/5 1 NA CCT C,T 8.236e-06 15:22944965 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant 1.615171 0.25607 0.04288 0.160075 0.857472049353362 0.170875 0.994933031618259 TRUE 8.13557e-06 ENSE00001321140_008 ENSE00001321140 008 15 22928078 22928247 + 51 78 41 C T 22928131 8 54 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAATGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944936 22944937 22944937 exon 3 0.0384615384615385 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAATGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant 31 14 0.85 0.85 0.85 NA NA NA NA NA 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 -0.0405207890078118 0.0200913670363982 NA NA 0.860214710985707 0.877097569744323 -0.0102147109857068 NA NA NA FALSE 0.999 0.387 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW CYFIP1 HGNC 13759 ENST00000558430 5/6 1 NA ACG C,T 1.647e-05 15:22944935 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA missense_variant 1.724409 0.88895 0.39236 0.719381 0.810207173809069 0 0.994933031618259 TRUE 1.2188e-05 ENSE00001321140_010 ENSE00001321140 010 15 22928078 22928247 + 51 78 41 A G 22928155 10 78 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAGTATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944912 22944913 22944913 exon 27 0.346153846153846 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAGTATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 934 564 0.997813386777687 0.977773443502101 0.987793415139894 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.073345108640721 0.148046582150422 0.860214710985707 0.877097569744323 NA 0.110695845395572 NA FALSE NA 0.64 0.282 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/6 1 NA AAT A,G 8.236e-06 15:22944911 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA missense_variant 0.395055 0.87978 0.36507 0.719381 0.593977699532323 0 0.994933031618259 TRUE 4.06154e-06 ENSE00001321140_012 ENSE00001321140 012 15 22928078 22928247 + 51 78 41 G A 22928159 12 82 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATACTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944908 22944909 22944909 exon 31 0.397435897435897 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATACTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 388 242 0.643313292237639 0.801043990350109 0.722178641293874 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.281154985899327 -0.0286828710015701 0.860214710985707 0.877097569744323 NA -0.154918928450449 NA FALSE NA 1 9.704 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/6 1 NA TGC G,A 8.236e-06 15:22944907 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA synonymous_variant 6.662814 0.97574 0.97701 0.719381 0.999105239796493 0 0.994933031618259 TRUE 1.62466e-05 ENSE00001321140_014 ENSE00001321140 014 15 22928078 22928247 + 51 78 41 C T 22928176 14 99 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACTTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944891 22944892 22944892 exon -31 0.615384615384615 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACTTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 55 29 0.990660569728301 1 0.99533028486415 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.0661922915913342 0.170273138648321 0.860214710985707 0.877097569744323 NA 0.118232715119827 NA FALSE NA 1 0.521 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/6 rs531828464 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCT C,T 8.236e-06 15:22944890 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA stop_gained 1.364092 0.90585 0.75082 0.706298 0.826886363579499 0 0.994933031618259 TRUE 4.06237e-06 ENSE00001321140_016 ENSE00001321140 016 15 22928078 22928247 + 51 78 41 C T 22928185 16 108 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGTTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944882 22944883 22944883 exon -22 0.730769230769231 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGTTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 103 322 0.0838098036381089 0.0201479591715872 0.0519788814048481 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.840658474498857 -0.809578902180092 0.860214710985707 0.877097569744323 NA -0.825118688339475 NA TRUE NA 1 2.102 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/6 rs367831397 1 NA T:0 T:0.0001 GCT C,T 1.647e-05 15:22944881 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA missense_variant 1.481008 0.9545 0.88703 0.706298 0.91783022342499 0 0.994933031618259 TRUE 1.21904e-05 ENSE00001321140_017 ENSE00001321140 017 15 22928078 22928247 + 51 78 41 C T 22928190 17 113 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTTCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944877 22944878 22944878 exon -17 0.794871794871795 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTTCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 90 220 0.997223701712107 0.919727345262753 0.95847552348743 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.0727554235751401 0.0900004839110741 0.860214710985707 0.877097569744323 NA 0.0813779537431071 NA FALSE NA 1 7.691 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/6 1 NA TCC C,T 8.236e-06 15:22944876 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA missense_variant 6.993815 0.97398 0.98496 0.706298 0.998198521262277 0 0.994933031618259 TRUE 1.21925e-05 ENSE00001321140_018 ENSE00001321140 018 15 22928078 22928247 + 51 78 41 C T 22928192 18 115 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCTGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944875 22944876 22944876 exon -15 0.82051282051282 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCTGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant 35 18 0.85 0.85 0.85 141 151 0.8 0.900933481902857 0.850466740951429 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 -0.0405207890078118 0.0200913670363982 -0.124468278136966 0.0712066205511779 0.860214710985707 0.877097569744323 -0.0102147109857068 -0.0266308287928942 0.0164161178071875 FALSE FALSE 1 1.671 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/6 1 NA CCG C,T 8.236e-06 15:22944874 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA synonymous_variant 7.402858 0.92143 0.91392 0.706298 0.998961343416448 0 0.994933031618259 TRUE 4.06494e-06 ENSE00001321140_019 ENSE00001321140 019 15 22928078 22928247 + 51 78 41 G A 22928193 19 116 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCAGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944874 22944875 22944875 exon -14 0.833333333333333 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCAGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 294 130 0.858711697019102 0.801941601140912 0.830326649080007 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.0657565811178649 -0.0277852602107678 0.860214710985707 0.877097569744323 NA -0.0467709206643163 NA FALSE NA 1 9.704 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/6 1 NA CGG G,A 1.647e-05 15:22944873 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA missense_variant 7.710927 0.97439 0.98977 0.706298 0.999459846116343 0 0.994933031618259 TRUE 8.12968e-06 ENSE00001321140_020 ENSE00001321140 020 15 22928078 22928247 + 51 78 41 A G 22928198 20 121 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCGTCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944869 22944870 22944870 exon -9 0.897435897435897 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCGTCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 25 862 0.869116651941616 0.829846345715249 0.849481498828432 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.0553516261953508 0.000119484363569677 0.860214710985707 0.877097569744323 NA -0.0276160709158906 NA FALSE NA 1 9.126 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/6 COSM1188932 1 NA CAT A,G 1.647e-05 15:22944868 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA synonymous_variant 1.592801 0.96814 0.988 0.706298 0.981831461663515 0 0.994933031618259 TRUE 8.13154e-06 ENSE00001321140_022 ENSE00001321140 022 15 22928078 22928247 + 51 78 41 C T 22928213 22 136 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCATGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944854 22944855 22944855 downstr_intron 7 1.175 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCATGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 606 476 0.813597381855086 0.876275687880589 0.844936534867837 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.11087089628188 0.0465488265289092 0.860214710985707 0.877097569744323 NA -0.0321610348764856 NA FALSE NA 0.002 -0.127 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:22944853 CYFIP1 HGNC Symbol protein_coding 114011 NA NA intron_variant -0.016327 0.13293 0.00787 0.156188 0.553775975520852 0.0808218 0.994933031618259 TRUE 0.000346472 ENSE00001321140_023 ENSE00001321140 023 15 22928078 22928247 + 51 78 41 C A 22928213 23 136 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCAAGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944854 22944855 22944855 downstr_intron 7 1.175 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCAAGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 21 10 0.992620816915939 0.824640188481827 0.908630502698883 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.0681525387789726 -0.00508667286985287 0.860214710985707 0.877097569744323 NA 0.0315329329545599 NA FALSE NA 0.002 -0.127 NA NA NA CYFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA ENSG00000068793 NA intron_variant 0.07252 0.1454 0.02898 0.156188 0.536836773309237 0.0808218 0.994933031618259 TRUE 4.07614e-06 ENSE00001321140_024 ENSE00001321140 024 15 22928078 22928247 + 51 78 41 G A 22928214 24 137 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACACTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944853 22944854 22944854 downstr_intron 8 1.2 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACACTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 1480 49 0.982879177314701 0.959603367309705 0.971241272312203 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.0584108991777343 0.129876505958026 0.860214710985707 0.877097569744323 NA 0.0941437025678802 NA FALSE NA 0 -0.649 . splice_region_variant&intron_variant&NMD_transcript_variant LOW CYFIP1 HGNC 13759 ENST00000558430 5/5 1 NA CGC G,A 2.471e-05 15:22944852 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant 0.072271 0.1579 0.01114 0.062308 0.769534414457414 0.0808218 0.994933031618259 TRUE 1.22503e-05 ENSE00001321140_025 ENSE00001321140 025 15 22928078 22928247 + 51 78 41 C T 22928217 25 140 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTTGCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944850 22944851 22944851 downstr_intron 11 1.275 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTTGCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant 38 48 0.85 0.85 0.85 688 51 0.853855990453057 0.928739021770127 0.891297506111592 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 -0.0405207890078118 0.0200913670363982 -0.0706122876839097 0.099012160418448 0.860214710985707 0.877097569744323 -0.0102147109857068 0.0141999363672691 0.0244146473529759 FALSE FALSE 0 -1.157 . intron_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/5 1 NA TCG C,T 1.647e-05 15:22944849 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant 0.455335 0.18076 0.05658 0.062308 0.550519754641772 0.0808218 0.994933031618259 TRUE 1.63253e-05 ENSE00001321140_026 ENSE00001321140 026 15 22928078 22928247 + 51 78 41 G T 22928218 26 141 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCTCCTGGCTCTTCCCCTCCAGCCACACCCTG 22944820 22944990 22944849 22944850 22944850 downstr_intron 12 1.3 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCTCCTGGCTCTTCCCCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 164 611 0.971316041817041 0.947877728009863 0.959596884913452 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA 0.0468477636800742 0.118150866658183 0.860214710985707 0.877097569744323 NA 0.0824993151691287 NA FALSE NA 0 -1.101 . intron_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/5 1 NA CGC G,T 2.471e-05 15:22944848 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant -0.347895 0.08184 0.07076 0.062308 0.54260088053199 0.0808218 0.994933031618259 TRUE 1.22588e-05 ENSE00001321140_028 ENSE00001321140 028 15 22928078 22928247 + 51 78 41 C T 22928231 28 154 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCTCTCCAGCCACACCCTG 22944820 22944990 22944836 22944837 22944837 downstr_intron 25 1.625 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCTCTCCAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 22 57 0.8 0.901092212852557 0.850546106426278 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.124468278136966 0.0713653515008772 0.860214710985707 0.877097569744323 NA -0.0265514633180445 NA FALSE NA 0 -0.46 . intron_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/5 1 NA CCC C,T 8.237e-06 15:22944835 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant 0.501045 0.17772 0.06256 0.062308 0.618653056648911 0.063162 0.994933031618259 TRUE 4.09018e-06 ENSE00001321140_029 ENSE00001321140 029 15 22928078 22928247 + 51 78 41 C T 22928235 29 158 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCTAGCCACACCCTG 22944820 22944990 22944832 22944833 22944833 downstr_intron 29 1.725 TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCTAGCCACACCCTG TTCATGCTAGTTCCCCCGCCTGCCTTTGATTTGCCCTGTGTTCCATTGCAGAACGAGATGCTGGAGGAGGGCCAAGAATATGCTGTCATGCTGTACACCTGGAGGAGCTGCTCCCGGGCCATCCCACAGGTGCCACGCTCGCCTGGCTCTTCCCCTCCAGCCACACCCTG mutant NA NA NA NA NA 21 41 0.814380469405839 0.752899424905652 0.783639947155746 0.890520789007812 0.829908632963602 0.924468278136966 0.829726861351679 NA NA -0.110087808731127 -0.0768274364460273 0.860214710985707 0.877097569744323 NA -0.0934576225885773 NA FALSE NA 0 -1.863 . intron_variant&NMD_transcript_variant MODIFIER CYFIP1 HGNC 13759 ENST00000558430 5/5 1 NA CCA C,T 8.237e-06 15:22944831 CYFIP1 HGNC Symbol protein_coding 114011 ENSG00000068793 NA intron_variant -0.357047 0.14496 0.03471 0.062308 0.410353944397202 0.063162 0.994933031618259 TRUE NA ENSE00001321266_000 ENSE00001321266 000 12 132683687 132683856 - 32 96 42 NA NA NA NA NA CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 NA NA NA NA NA NA CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC natural 149 252 0.816165964972816 0.85 0.833082982486408 690 1904 0.8465879922152 0.833133177040282 0.839860584627741 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0 0 0 0 0.833082982486408 0.839860584627741 0 0 0 FALSE FALSE NA NA NA NA NA GALNT9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GALNT9 NA NA NA ENSG00000182870 ENSE00001321266 NA NA NA NA NA NA NA 0.594228592829193 FALSE NA ENSE00001321266_001 ENSE00001321266 001 12 132683687 132683856 - 32 96 42 G A 132683697 3974 160 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCTATGCAGCTCC 132199141 132199311 132199151 132199152 132199152 downstr_intron 22 1.70967741935484 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCTATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 689 1435 0.972402506326766 0.965898389303453 0.969150447815109 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA 0.125814514111566 0.132765212263172 0.833082982486408 0.839860584627741 NA 0.129289863187369 NA FALSE NA 0.002 0.768 . intron_variant MODIFIER GALNT9 HGNC 4131 ENST00000541995 4/5 1 NA TGG G,A 8.271e-06 12:132199152 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 intron_variant -0.139757 0.11252 0.0236 0.055982 0.760809693396475 0.0455939 0.594228592829193 FALSE 1.27603e-05 ENSE00001321266_003 ENSE00001321266 003 12 132683687 132683856 - 32 96 42 G A 132683705 3976 152 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGTGGCCACCCATGCAGCTCC 132199141 132199311 132199159 132199160 132199160 downstr_intron 14 1.45161290322581 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGTGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 302 440 0.848182879002958 0.85 0.849091439501479 154 100 0.95 0.948442223137831 0.949221111568916 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0.0320169140301426 0 0.1034120077848 0.11530904609755 0.833082982486408 0.839860584627741 0.0160084570150713 0.109360526941175 0.0933520699261037 FALSE FALSE 0 0.317 . intron_variant MODIFIER GALNT9 HGNC 4131 ENST00000541995 4/5 1 NA CGC G,A 1.654e-05 12:132199160 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 intron_variant -0.226866 0.1003 0.01292 0.055982 0.418296298895024 0.0455939 0.594228592829193 FALSE NA ENSE00001321266_005 ENSE00001321266 005 12 132683687 132683856 - 32 96 42 C T 132683733 3978 124 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCTGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199187 132199188 132199188 exon -15 0.854166666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACAGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 54 296 1 0.988710204283931 0.994355102141966 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA 0.1534120077848 0.15557702724365 0.833082982486408 0.839860584627741 NA 0.154494517514225 NA FALSE NA 1 5.847 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 1 deleterious(0) probably_damaging(0.99) NA CCG C,T 2.481e-05 12:132199188 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 6.166061 0.99171 0.95249 0.646311 0.999148885618048 0 0.594228592829193 FALSE 2.51271e-05 ENSE00001321266_006 ENSE00001321266 006 12 132683687 132683856 - 32 96 42 G A 132683743 3979 114 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTATCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199197 132199198 132199198 exon -25 0.75 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTATCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 608 278 0.80493676161824 0.811459763294695 0.808198262456467 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.04165123059696 -0.0216734137455868 0.833082982486408 0.839860584627741 NA -0.0316623221712734 NA FALSE NA 0.984 0.336 . synonymous_variant LOW GALNT9 HGNC 4131 ENST00000541995 4/6 1 NA GGT G,A 4.134e-05 12:132199198 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 synonymous_variant -0.083198 0.95634 0.73587 0.646311 0.707903273081385 0 0.594228592829193 FALSE 3.76632e-05 ENSE00001321266_007 ENSE00001321266 007 12 132683687 132683856 - 32 96 42 G A 132683748 3980 109 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCTTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199202 132199203 132199203 exon -30 0.697916666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCTTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 336 530 0.963280840919107 0.99380602594446 0.978543433431784 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA 0.116692848703908 0.160672848904179 0.833082982486408 0.839860584627741 NA 0.138682848804043 NA FALSE NA 1 7.57 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 COSM3458304&COSM3458305&COSM3458306 1 deleterious(0) probably_damaging(0.968) NA AGG G,A 8.269e-06 12:132199203 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 5.049571 0.98564 0.96604 0.646311 0.998796456959348 0 0.594228592829193 FALSE NA ENSE00001321266_008 ENSE00001321266 008 12 132683687 132683856 - 32 96 42 C T 132683752 3981 105 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATTGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199206 132199207 132199207 exon -34 0.65625 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCAATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 766 160 0.678888715672908 0.8 0.739444357836454 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.167699276542291 -0.0331331770402817 0.833082982486408 0.839860584627741 NA -0.100416226791287 NA FALSE NA 0.105 -0.38 rs61745417 synonymous_variant LOW GALNT9 HGNC 4131 ENST00000541995 4/6 rs61745417&COSM3458307&COSM3458308&COSM3458309 1 T:0.0012 T:0.0045 T:0 NA T:0 T:0 T:0 T:0.0069 T:0.0001 TCG C,T 0.000612 12:132199207 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 synonymous_variant 0.867035 0.91963 0.2347 0.646311 0.62294358493298 0 0.594228592829193 FALSE 0.000494137 ENSE00001321266_009 ENSE00001321266 009 12 132683687 132683856 - 32 96 42 G A 132683753 3982 104 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGTGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199207 132199208 132199208 exon -35 0.645833333333333 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGTGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 1395 352 0.841933791378456 0.800820517886776 0.821377154632616 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.00465420083674373 -0.0323126591535056 0.833082982486408 0.839860584627741 NA -0.0184834299951246 NA FALSE NA 1 7.703 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 rs368039369 1 deleterious(0.02) benign(0.258) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0002 A:0 CGC G,A 3.308e-05 12:132199208 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 2.908148 0.99191 0.98121 0.646311 0.998895537380568 0 0.594228592829193 FALSE 3.76932e-05 ENSE00001321266_011 ENSE00001321266 011 12 132683687 132683856 - 32 96 42 C T 132683756 3984 101 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCTGGTCGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199210 132199211 132199211 exon -38 0.614583333333333 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCAGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 354 3281 0.94960547574248 0.937206003077957 0.943405739410218 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA 0.103017483527281 0.104072826037675 0.833082982486408 0.839860584627741 NA 0.103545154782478 NA FALSE NA 0.892 0.285 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 rs371504074 1 tolerated(0.31) benign(0.015) NA T:0.0002 T:0 CCG C,T 4.961e-05 12:132199211 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 1.148643 0.19652 0.03127 0.646311 0.961510049527505 0 0.594228592829193 FALSE 4.18393e-05 ENSE00001321266_012 ENSE00001321266 012 12 132683687 132683856 - 32 96 42 G A 132683757 3985 100 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACTGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199211 132199212 132199212 exon -39 0.604166666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACTGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 145 159 0.809955621021886 0.789321497927694 0.79963855947479 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.0366323711933136 -0.043811679112588 0.833082982486408 0.839860584627741 NA -0.0402220251529508 NA FALSE NA 0.998 2.962 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 1 deleterious(0.03) possibly_damaging(0.846) NA CGG G,A 5.788e-05 12:132199212 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 6.061409 0.97852 0.85216 0.646311 0.999060978789421 0 0.594228592829193 FALSE 3.76563e-05 ENSE00001321266_014 ENSE00001321266 014 12 132683687 132683856 - 32 96 42 C T 132683760 3987 97 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTTGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199214 132199215 132199215 exon -42 0.572916666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCAACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 53 12 0.024614589853734 0.0552657751577849 0.0399401825057594 NA NA NA NA NA 0.816165964972816 0.85 0.8465879922152 0.833133177040282 -0.791551375119082 -0.794734224842215 NA NA 0.833082982486408 0.839860584627741 -0.793142799980648 NA NA NA TRUE 1 2.447 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 rs372226303 1 tolerated(1) benign(0.022) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 8.269e-05 12:132199215 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 1.146003 0.97869 0.81588 0.646311 0.130728477092721 0 0.594228592829193 FALSE 9.20779e-05 ENSE00001321266_015 ENSE00001321266 015 12 132683687 132683856 - 32 96 42 G A 132683761 3988 96 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGTGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199215 132199216 132199216 exon -43 0.5625 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGTGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 28 20 0 0 0 NA NA NA NA NA 0.816165964972816 0.85 0.8465879922152 0.833133177040282 -0.816165964972816 -0.85 NA NA 0.833082982486408 0.839860584627741 -0.833082982486408 NA NA NA TRUE 0.998 0.688 . synonymous_variant LOW GALNT9 HGNC 4131 ENST00000541995 4/6 rs200409792&COSM1360209&COSM1360210&COSM3384168 1 A:0.0004 A:0 A:0.0014 NA A:0.001 A:0 A:0 A:0 A:0.0007 CGC G,A 0.0002563 12:132199216 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 synonymous_variant 0.449434 0.94939 0.39017 0.646311 0.524041196251274 0 0.594228592829193 FALSE 0.000263645 ENSE00001321266_016 ENSE00001321266 016 12 132683687 132683856 - 32 96 42 C T 132683763 3989 94 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCTGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199217 132199218 132199218 exon -45 0.541666666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACAGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 65 130 0.841520977008195 0.85 0.845760488504097 NA NA NA NA NA 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0.0253550120353792 0 NA NA 0.833082982486408 0.839860584627741 0.0126775060176896 NA NA NA FALSE 0.998 3.834 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 COSM293188 1 tolerated(0.07) benign(0.15) NA CCG C,T 1.654e-05 12:132199218 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 3.148386 0.98368 0.85492 0.646311 0.993471959489004 0 0.594228592829193 FALSE 8.35771e-06 ENSE00001321266_017 ENSE00001321266 017 12 132683687 132683856 - 32 96 42 G A 132683764 3990 93 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGATGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199218 132199219 132199219 exon -46 0.53125 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGATGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 510 137 0 0.012957173352037 0.00647858667601848 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.8465879922152 -0.820176003688245 0.833082982486408 0.839860584627741 NA -0.833381997951722 NA TRUE NA 0.788 -0.183 . synonymous_variant LOW GALNT9 HGNC 4131 ENST00000541995 4/6 rs374001967 1 NA A:0.0002 A:0.0002 CGT G,A 0.000124 12:132199219 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 synonymous_variant 0.307575 0.95204 0.315 0.646311 0.553606102825639 0 0.594228592829193 FALSE 0.00012118 ENSE00001321266_018 ENSE00001321266 018 12 132683687 132683856 - 32 96 42 C T 132683770 3991 87 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCTGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199224 132199225 132199225 exon 45 0.46875 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCAGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 22 44 0.85 0.85 0.85 NA NA NA NA NA 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0.0338340350271844 0 NA NA 0.833082982486408 0.839860584627741 0.0169170175135922 NA NA NA FALSE 0 -7.794 rs61745412 synonymous_variant LOW GALNT9 HGNC 4131 ENST00000541995 4/6 rs61745412 1 T:0.0060 T:0.0189 T:0.0043 NA T:0.001 T:0.001 T:0 T:0.0189 T:0.0004 CCG C,T 0.002117 12:132199225 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 synonymous_variant 1.208433 0.21893 0.00632 0.646311 0.66006642882405 0 0.594228592829193 FALSE 0.00199361 ENSE00001321266_019 ENSE00001321266 019 12 132683687 132683856 - 32 96 42 G A 132683771 3992 86 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGTGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199225 132199226 132199226 exon 44 0.458333333333333 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGTGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 29 71 0.85 0.85 0.85 158 297 0.86084811128055 0.801458940059453 0.831153525670001 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0.0338340350271844 0 0.0142601190653502 -0.0316742369808292 0.833082982486408 0.839860584627741 0.0169170175135922 -0.00870705895773949 0.0256240764713317 FALSE FALSE 1 7.644 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 rs569920280&COSM204025&COSM3954433&COSM3954434&COSM1605819&COSM3954435&COSM3703967 1 tolerated(0.09) benign(0.015) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 4.134e-05 12:132199226 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 2.321456 0.89729 0.93881 0.646311 0.997358505786755 0 0.594228592829193 FALSE 3.33773e-05 ENSE00001321266_020 ENSE00001321266 020 12 132683687 132683856 - 32 96 42 C A 132683772 3993 85 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGATCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199226 132199227 132199227 exon 43 0.447916666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGATCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 302 85 0.945365742654559 0.95 0.947682871327279 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA 0.0987777504393592 0.116866822959718 0.833082982486408 0.839860584627741 NA 0.107822286699539 NA FALSE NA 0.995 1.92 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 1 tolerated(0.06) benign(0.008) NA GCT C,A 8.267e-06 12:132199227 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 1.078822 0.2235 0.404 0.646311 0.973077572613146 0 0.594228592829193 FALSE 1.2508e-05 ENSE00001321266_021 ENSE00001321266 021 12 132683687 132683856 - 32 96 42 C T 132683776 3994 81 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCTTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199230 132199231 132199231 exon 39 0.40625 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAAGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 33 17 0.85 0.85 0.85 49 472 0.926700209373654 0.955528496480958 0.941114352927306 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0.0338340350271843 0 0.0801122171584547 0.122395319440676 0.833082982486408 0.839860584627741 0.0169170175135921 0.101253768299565 0.0843367507859731 FALSE FALSE 1 1.355 . synonymous_variant LOW GALNT9 HGNC 4131 ENST00000541995 4/6 1 NA CCT C,T 2.48e-05 12:132199231 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 synonymous_variant 0.877225 0.96592 0.74413 0.646311 0.705097328200599 0 0.594228592829193 FALSE 2.0829e-05 ENSE00001321266_022 ENSE00001321266 022 12 132683687 132683856 - 32 96 42 C T 132683781 3995 76 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTTCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199235 132199236 132199236 exon 34 0.354166666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGAACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 795 330 0.802227255473117 0.919384886309115 0.860806070891116 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.044360736742083 0.0862517092688327 0.833082982486408 0.839860584627741 NA 0.0209454862633749 NA FALSE NA 1 7.561 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 1 deleterious(0) probably_damaging(0.952) NA TCC C,T 8.267e-06 12:132199236 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 6.659849 0.99171 0.97813 0.646311 0.999227916182381 0 0.594228592829193 FALSE NA ENSE00001321266_023 ENSE00001321266 023 12 132683687 132683856 - 32 96 42 A G 132683783 3996 74 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCGGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199237 132199238 132199238 exon 32 0.333333333333333 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCCGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 854 467 0.936043060084262 0.81309070908296 0.874566884583611 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA 0.0894550678690622 -0.0200424679573219 0.833082982486408 0.839860584627741 NA 0.0347062999558702 NA FALSE NA 1 9.023 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 1 deleterious(0) probably_damaging(0.962) NA CAG A,G 1.653e-05 12:132199238 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 5.947714 0.98931 0.98593 0.646311 0.998985490137489 0 0.594228592829193 FALSE 1.24942e-05 ENSE00001321266_024 ENSE00001321266 024 12 132683687 132683856 - 32 96 42 G A 132683784 3997 73 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTTTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199238 132199239 132199239 exon 31 0.322916666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTTTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 278 430 0.846046552152441 0.85 0.84802327607622 46 177 0.8 0.8 0.8 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0.0298805871796251 0 -0.0465879922151995 -0.0331331770402817 0.833082982486408 0.839860584627741 0.0149402935898125 -0.0398605846277406 0.0548008782175531 FALSE FALSE 1 0.191 . synonymous_variant LOW GALNT9 HGNC 4131 ENST00000541995 4/6 1 NA AGA G,A 2.48e-05 12:132199239 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 synonymous_variant 0.761438 0.95334 0.51902 0.646311 0.766379431734736 0 0.594228592829193 FALSE 1.24945e-05 ENSE00001321266_025 ENSE00001321266 025 12 132683687 132683856 - 32 96 42 A G 132683787 3998 70 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCAGACGGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199241 132199242 132199242 exon 28 0.291666666666667 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACCGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 1063 174 0.917100675502055 0.965256954296367 0.941178814899211 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA 0.070512683286855 0.132123777256085 0.833082982486408 0.839860584627741 NA 0.10131823027147 NA FALSE NA 1 9.023 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 1 deleterious(0) probably_damaging(0.961) NA CAG A,G 1.653e-05 12:132199242 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 5.375953 0.98931 0.98593 0.646311 0.997300167015042 0 0.594228592829193 FALSE 1.24983e-05 ENSE00001321266_027 ENSE00001321266 027 12 132683687 132683856 - 32 96 42 C T 132683810 4000 47 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTTTCACCTGCAAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199264 132199265 132199265 exon 5 0.0520833333333333 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAAAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 552 237 0.968581480897809 0.838144242219283 0.903362861558546 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA 0.121993488682609 0.00501106517900163 0.833082982486408 0.839860584627741 NA 0.0635022769308054 NA FALSE NA 1 5.847 . missense_variant MODERATE GALNT9 HGNC 4131 ENST00000541995 4/6 rs535700131 1 tolerated(0.59) probably_damaging(0.957) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C,T 3.308e-05 12:132199265 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 missense_variant 3.654282 0.99171 0.95249 0.646311 0.990556633144966 0 0.594228592829193 FALSE 3.7632e-05 ENSE00001321266_028 ENSE00001321266 028 12 132683687 132683856 - 32 96 42 G A 132683817 4001 40 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGTAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 132199271 132199272 132199272 upstr_intron -3 -0.0476190476190476 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGTAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 1401 1014 0.726737274684644 0.800391729135348 0.763564501909996 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.119850717530556 -0.0327414479049343 0.833082982486408 0.839860584627741 NA -0.0762960827177451 NA FALSE NA 0 -0.073 . splice_region_variant&intron_variant LOW GALNT9 HGNC 4131 ENST00000541995 3/5 rs377607554 1 NA A:0 A:0.0001 TGC G,A 2.481e-05 12:132199272 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 splice_region_variant 0.862927 0.13498 0.01861 0.056701 0.798734054428084 0.404638 0.594228592829193 FALSE NA ENSE00001321266_029 ENSE00001321266 029 12 132683687 132683856 - 32 96 42 A G 132683819 4002 38 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCGAGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199273 132199274 132199274 upstr_intron -5 -0.0952380952380952 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTCGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant NA NA NA NA NA 312 514 0.0188742043839566 0.0013360741679036 0.0101051392759301 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.827713787831243 -0.831797102872378 0.833082982486408 0.839860584627741 NA -0.829755445351811 NA TRUE NA 0 -0.101 . splice_region_variant&intron_variant LOW GALNT9 HGNC 4131 ENST00000541995 3/5 1 NA CAA A,G 8.271e-06 12:132199274 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 splice_region_variant 0.370944 0.16091 0.00502 0.056701 0.531433374169711 0.404638 0.594228592829193 FALSE 4.19182e-06 ENSE00001321266_030 ENSE00001321266 030 12 132683687 132683856 - 32 96 42 A G 132683820 4003 37 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAGGCAGAAGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199274 132199275 132199275 upstr_intron -6 -0.119047619047619 CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCCTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 102 35 0 0 0 NA NA NA NA NA 0.816165964972816 0.85 0.8465879922152 0.833133177040282 -0.816165964972816 -0.85 NA NA 0.833082982486408 0.839860584627741 -0.833082982486408 NA NA NA TRUE 0.003 0.534 . splice_region_variant&intron_variant LOW GALNT9 HGNC 4131 ENST00000541995 3/5 1 NA AAG A,G 1.654e-05 12:132199275 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 splice_region_variant -0.051818 0.17934 0.04645 0.056701 0.57985136460481 0.230738 0.594228592829193 FALSE 8.38603e-06 ENSE00001321266_031 ENSE00001321266 031 12 132683687 132683856 - 32 96 42 A G 132683826 4004 31 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAGGCCCCAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199280 132199281 132199281 upstr_intron -12 -0.261904761904762 CTCGGGTGACTCTGGACTTTCTCCTGGGGCCTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 26 88 0.85 0.85 0.85 155 71 0.8 0.8 0.8 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0.0338340350271844 0 -0.0465879922151996 -0.0331331770402817 0.833082982486408 0.839860584627741 0.0169170175135922 -0.0398605846277407 0.0567776021413329 FALSE FALSE 0.636 2.564 . intron_variant MODIFIER GALNT9 HGNC 4131 ENST00000541995 3/5 rs369219176 1 NA G:0.0002 G:0 AAG A,G 8.272e-06 12:132199281 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 intron_variant 0.095776 0.28481 0.27352 0.056701 0.614960618594414 0.0893574 0.594228592829193 FALSE NA ENSE00001321266_032 ENSE00001321266 032 12 132683687 132683856 - 32 96 42 C T 132683831 4005 26 GGAGCTGCATGGGTGGCCGCTGCTACTCCTACCTGGGAGGACATCCCGTGGCAGGGGTAGAGGATCGCCCGGTCGCCGTCCTCCGCTCCCTGGTCCAGACAGTAGGCACTGGCTTTGCTGTTTCTCACCTGCAAGCAGAAGCCCTAGGAGAAAGTCCAGAGTCACCCGAG 132199141 132199311 132199285 132199286 132199286 upstr_intron -17 -0.380952380952381 CTCGGGTGACTCTGGACTTTCTCCTAGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC mutant 62 55 0.85 0.85 0.85 NA NA NA NA NA 0.816165964972816 0.85 0.8465879922152 0.833133177040282 0.0338340350271844 0 NA NA 0.833082982486408 0.839860584627741 0.0169170175135922 NA NA NA FALSE 0 -0.173 . intron_variant MODIFIER GALNT9 HGNC 4131 ENST00000541995 3/5 1 NA CCA C,T 8.272e-06 12:132199286 GALNT9 HGNC Symbol protein_coding 132977 ENSG00000182870 ENSE00001321266 intron_variant 0.145354 0.17523 0.0274 0.056701 0.577450258400933 0.0893574 0.594228592829193 FALSE 4.22001e-06 ENSE00001321266_BRK ENSE00001321266 BRK 12 132683687 132683856 - 32 96 42 A,G; T,T NA NA NA CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCTTGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGCCAGGAGTAGCAGCGGCCACCCATGCAGCTCC 132199141 132199311 NA NA NA NA NA NA CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCTTGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGCCAGGAGTAGCAGCGGCCACCCATGCAGCTCC CTCGGGTGACTCTGGACTTTCTCCTGGGGCTTCTGCTTGCAGGTGAGAAACAGCAAAGCCAGTGCCTACTGTCTGGACCAGGGAGCGGAGGACGGCGACCGGGCGATCCTCTACCCCTGCCACGGGATGTCCTCCCAGGTAGGAGTAGCAGCGGCCACCCATGCAGCTCC control NA NA NA NA NA 325 148 0.021190540947393 0.00342609503551719 0.0123083179914551 0.816165964972816 0.85 0.8465879922152 0.833133177040282 NA NA -0.825397451267807 -0.829707082004765 0.833082982486408 0.839860584627741 NA -0.827552266636286 NA TRUE NA NA NA NA NA NA GALNT9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GALNT9 NA NA NA ENSG00000182870 ENSE00001321266 NA NA NA NA NA NA NA 0.594228592829193 FALSE NA ENSE00001322578_000 ENSE00001322578 000 21 47716020 47716189 + 56 69 45 NA NA NA NA NA TTCCCCCACGCACCCCCTCGGTAGTGGGATGGATGGGCTCCTTACCTGCTGCCACTCTGCCTCCGTGCCGTGTGTGAATCCCAGCAAGTGACAGAGTCCGTGGGTGGCCGTCACCTGTCAGAATAATTTTAAACCGGCTCAGAGGATGACCCCACAGGAACCTGCCCCTT 46296105 46296275 NA NA NA NA NA NA AAGGGGCAGGTTCCTGTGGGGTCATCCTCTGAGCCGGTTTAAAATTATTCTGACAGGTGACGGCCACCCACGGACTCTGTCACTTGCTGGGATTCACACACGGCACGGAGGCAGAGTGGCAGCAGGTAAGGAGCCCATCCATCCCACTACCGAGGGGGTGCGTGGGGGAA AAGGGGCAGGTTCCTGTGGGGTCATCCTCTGAGCCGGTTTAAAATTATTCTGACAGGTGACGGCCACCCACGGACTCTGTCACTTGCTGGGATTCACACACGGCACGGAGGCAGAGTGGCAGCAGGTAAGGAGCCCATCCATCCCACTACCGAGGGGGTGCGTGGGGGAA natural 66 49 0.941951311540602 0.956117758545328 0.949034535042965 391 103 0.998836444089007 0.984327086221864 0.991581765155436 0.941951311540602 0.956117758545328 0.998836444089007 0.984327086221864 0 0 0 0 0.949034535042965 0.991581765155436 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001322578 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00001323158_000 ENSE00001323158 000 1 51061761 51061930 - 32 96 42 NA NA NA NA NA GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 NA NA NA NA NA NA GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG natural 83 52 0.922426369556516 0.938930482475031 0.930678426015774 1266 1571 0.911517410063483 0.963516622525831 0.937517016294657 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 0 0 0 0 0.930678426015774 0.937517016294657 0 0 0 FALSE FALSE NA NA NA NA NA FAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAF1 NA NA NA ENSG00000185104 ENSE00003596808 NA NA NA NA NA NA NA 0.997397841844743 TRUE NA ENSE00001323158_002 ENSE00001323158 002 1 51061761 51061930 - 32 96 42 T C 51061794 1859 137 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGGAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596121 50596122 50596122 exon -2 0.989583333333333 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGGAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 61 17 0.973877838107442 1 0.986938919053721 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0623604280439595 0.0364833774741686 0.930678426015774 0.937517016294657 NA 0.0494219027590641 NA FALSE NA 1 5.452 . missense_variant&splice_region_variant MODERATE FAF1 HGNC 3578 ENST00000371778 10/20 1 tolerated(0.28) benign(0.002) NA TTC T,C 8.237e-06 1:50596122 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 missense_variant 1.753401 0.93957 0.93453 0.706298 0.993946412589463 0 0.997397841844743 TRUE NA ENSE00001323158_006 ENSE00001323158 006 1 51061761 51061930 - 32 96 42 C G 51061807 1863 124 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGCAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596134 50596135 50596135 exon -15 0.854166666666667 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGCAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 111 567 1 0.988657841025094 0.994328920512547 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0251412184992622 0.930678426015774 0.937517016294657 NA 0.0568119042178898 NA FALSE NA 1 3.742 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 10/20 1 tolerated(0.06) benign(0.023) NA TCC C,G 8.236e-06 1:50596135 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 missense_variant 0.741929 0.93026 0.92781 0.706298 0.947529622833053 0 0.997397841844743 TRUE 8.13921e-06 ENSE00001323158_007 ENSE00001323158 007 1 51061761 51061930 - 32 96 42 C T 51061809 1864 122 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCAGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596136 50596137 50596137 exon -17 0.833333333333333 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCAGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 430 143 0.996776930602763 1 0.998388465301382 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0852595205392809 0.0364833774741686 0.930678426015774 0.937517016294657 NA 0.0608714490067248 NA FALSE NA 0.995 1.575 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 10/20 rs538524843&COSM1343262 1 tolerated(0.55) benign(0.003) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 2.471e-05 1:50596137 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 missense_variant 0.877151 0.89248 0.84316 0.706298 0.698612098043574 0 0.997397841844743 TRUE 1.2209e-05 ENSE00001323158_008 ENSE00001323158 008 1 51061761 51061930 - 32 96 42 G A 51061810 1865 121 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCTGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596137 50596138 50596138 exon -18 0.822916666666667 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCTGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 11 112 1 1 1 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0364833774741686 0.930678426015774 0.937517016294657 NA 0.0624829837053431 NA FALSE NA 0.999 3.408 rs148072719 missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 10/20 rs148072719 1 deleterious(0.01) possibly_damaging(0.517) A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 A:0.0005 A:0.0016 CGG G,A 0.002298 1:50596138 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 missense_variant 5.409767 0.91028 0.84903 0.706298 0.996488592657743 0 0.997397841844743 TRUE 0.00245786 ENSE00001323158_009 ENSE00001323158 009 1 51061761 51061930 - 32 96 42 C G 51061814 1866 117 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACACACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596141 50596142 50596142 exon -22 0.78125 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACACACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 32 257 1 1 1 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0364833774741686 0.930678426015774 0.937517016294657 NA 0.0624829837053431 NA FALSE NA 1 0.46 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 10/20 rs369843554 1 tolerated(0.22) benign(0.195) NA G:0.0002 G:0.0001 TCT C,G 8.236e-05 1:50596142 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 missense_variant 0.770244 0.89419 0.76563 0.706298 0.927012139398554 0 0.997397841844743 TRUE 7.32184e-05 ENSE00001323158_011 ENSE00001323158 011 1 51061761 51061930 - 32 96 42 G A 51061824 1868 107 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTTACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596151 50596152 50596152 exon -32 0.677083333333333 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTTACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 344 274 1 1 1 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0364833774741686 0.930678426015774 0.937517016294657 NA 0.0624829837053431 NA FALSE NA 1 3.985 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 10/20 1 tolerated(0.1) benign(0.001) NA TGA G,A 8.236e-06 1:50596152 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 missense_variant 1.730454 0.91344 0.90485 0.706298 0.978910358879209 0 0.997397841844743 TRUE 4.06709e-06 ENSE00001323158_013 ENSE00001323158 013 1 51061761 51061930 - 32 96 42 T C 51061835 1870 96 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGGAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596162 50596163 50596163 exon -43 0.5625 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGGAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 470 24 1 1 1 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0364833774741686 0.930678426015774 0.937517016294657 NA 0.0624829837053431 NA FALSE NA 1 0.409 . synonymous_variant LOW FAF1 HGNC 3578 ENST00000371778 10/20 1 NA TTC T,C 8.236e-05 1:50596163 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 synonymous_variant 0.039969 0.87914 0.7615 0.706298 0.6877119253097 0 0.997397841844743 TRUE 9.76062e-05 ENSE00001323158_014 ENSE00001323158 014 1 51061761 51061930 - 32 96 42 G A 51061842 1871 89 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTATAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596169 50596170 50596170 exon 47 0.489583333333333 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTATAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 54 75 1 1 1 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0364833774741686 0.930678426015774 0.937517016294657 NA 0.0624829837053431 NA FALSE NA 1 5.063 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 10/20 1 deleterious(0.04) benign(0.215) NA TGT G,A 8.236e-06 1:50596170 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 missense_variant 3.025715 0.92742 0.92377 0.706298 0.998050840931332 0 0.997397841844743 TRUE 4.06686e-06 ENSE00001323158_017 ENSE00001323158 017 1 51061761 51061930 - 32 96 42 A G 51061859 1874 72 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTACCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596186 50596187 50596187 exon 30 0.3125 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTACCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 132 449 1 0.999647605090755 0.999823802545378 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0361309825649241 0.930678426015774 0.937517016294657 NA 0.0623067862507208 NA FALSE NA 0.995 0.266 . synonymous_variant LOW FAF1 HGNC 3578 ENST00000371778 10/20 1 NA GAT A,G 9.06e-05 1:50596187 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 synonymous_variant 0.053767 0.8834 0.71172 0.706298 0.76966979068609 0 0.997397841844743 TRUE 0.000109818 ENSE00001323158_019 ENSE00001323158 019 1 51061761 51061930 - 32 96 42 C A 51061868 1876 63 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGTCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596195 50596196 50596196 exon 21 0.21875 GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGTCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 253 113 1 0.975073554851489 0.987536777425745 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0115569323256581 0.930678426015774 0.937517016294657 NA 0.0500197611310878 NA FALSE NA 1 0.495 . synonymous_variant LOW FAF1 HGNC 3578 ENST00000371778 10/20 rs553545555 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GCC C,A 8.236e-06 1:50596196 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 synonymous_variant 2.571731 0.87981 0.77461 0.706298 0.844035528979984 0 0.997397841844743 TRUE 4.06957e-06 ENSE00001323158_022 ENSE00001323158 022 1 51061761 51061930 - 32 96 42 C T 51061919 1879 12 GGCCGTATTTTATTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG 50596088 50596258 50596246 50596247 50596247 upstr_intron -31 -0.714285714285714 GGCCGTATTTTATTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG GGCCGTATTTTGTTTACAAATGATGGATTCTACTTTTTGCAGATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAAGTAAGCCTGTTTGCCAGCTTTTCTTTGAACAG mutant NA NA NA NA NA 468 2140 1 1 1 0.922426369556516 0.938930482475031 0.911517410063483 0.963516622525831 NA NA 0.0884825899365175 0.0364833774741686 0.930678426015774 0.937517016294657 NA 0.0624829837053431 NA FALSE NA 0.437 -0.081 . intron_variant MODIFIER FAF1 HGNC 3578 ENST00000371778 9/19 1 NA ACA C,T 8.238e-06 1:50596247 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00003596808 intron_variant 0.695302 0.16493 0.23055 0.099367 0.757850631314024 0.174364 0.997397841844743 TRUE 4.25188e-06 ENSE00001323333_000 ENSE00001323333 000 22 30050590 30050759 + 56 69 45 NA NA NA NA NA GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 NA NA NA NA NA NA GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG natural 190 210 0.996923801806141 0.996188791373923 0.996556296590032 3419 4906 0.809098323575662 0.996332429272001 0.902715376423831 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 0 0 0 0 0.996556296590032 0.902715376423831 0 0 0 FALSE FALSE NA NA NA NA NA NF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NF2 NA NA NA ENSG00000186575 ENSE00001323333 NA NA NA NA NA NA NA 0.999923343294104 TRUE NA ENSE00001323333_001 ENSE00001323333 001 22 30050590 30050759 + 56 69 45 A T 30050602 450 13 GAAATGGCAGTTTTCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 29654612 29654613 29654613 upstr_intron -44 -0.767857142857143 GAAATGGCAGTTTTCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 1005 646 0.99743004989392 0.884163844785241 0.940796947339581 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.188331726318258 -0.11216858448676 0.996556296590032 0.902715376423831 NA 0.0380815709157491 NA FALSE NA 0.123 0.687 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 1 NA TAT A,T 3.295e-05 22:29654613 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 intron_variant 1.187549 0.64108 0.06701 0.099367 0.640907592191162 0.497572 0.999923343294104 TRUE 1.6266e-05 ENSE00001323333_002 ENSE00001323333 002 22 30050590 30050759 + 56 69 45 G A 30050620 451 31 GAAATGGCAGTTATCTTTAGAATCTCAATCACCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 29654630 29654631 29654631 upstr_intron -26 -0.446428571428571 GAAATGGCAGTTATCTTTAGAATCTCAATCACCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 1572 1451 0.949438659317124 0.999864735464675 0.974651697390899 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.140340335741462 0.00353230619267364 0.996556296590032 0.902715376423831 NA 0.0719363209670679 NA FALSE NA 0.002 0.007 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 1 NA CGC G,A 8.236e-06 22:29654631 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 intron_variant -0.283616 0.22693 0.04715 0.156188 0.677345111235332 0.3114 0.999923343294104 TRUE 1.62619e-05 ENSE00001323333_003 ENSE00001323333 003 22 30050590 30050759 + 56 69 45 C T 30050629 452 40 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTTCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 29654639 29654640 29654640 upstr_intron -17 -0.285714285714286 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTTCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 1255 1363 0.998775946917633 0.998128910909425 0.998452428913529 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.189677623341972 0.00179648163742396 0.996556296590032 0.902715376423831 NA 0.0957370524896979 NA FALSE NA 0.03 0.234 rs190596693 intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 rs190596693 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0052 T:0 TCC C,T 0.0004859 22:29654640 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 intron_variant -0.512666 0.24127 0.0761 0.156188 0.72850763746429 0.325677 0.999923343294104 TRUE 0.000426795 ENSE00001323333_004 ENSE00001323333 004 22 30050590 30050759 + 56 69 45 C G 30050642 453 53 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTGCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 29654652 29654653 29654653 upstr_intron -4 -0.0535714285714286 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTGCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 709 3314 0.998891908472586 0.950800116052621 0.974846012262603 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.189793584896924 -0.0455323132193803 0.996556296590032 0.902715376423831 NA 0.0721306358387719 NA FALSE NA 0.033 -0.243 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 1 NA TCC C,G 8.236e-06 22:29654653 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 splice_region_variant 1.027165 0.89078 0.29847 0.099367 0.71965870612062 0.469771 0.999923343294104 TRUE 4.06428e-06 ENSE00001323333_006 ENSE00001323333 006 22 30050590 30050759 + 56 69 45 C T 30050663 455 74 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCTAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 29654673 29654674 29654674 exon 18 0.260869565217391 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCTAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 648 489 1 0.99826924018092 0.99913462009046 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.190901676424338 0.00193681090891851 0.996556296590032 0.902715376423831 NA 0.0964192436666285 NA FALSE NA 0.091 0.088 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 rs374911526 1 NA T:0 T:0.0001 CCA C,T 6.589e-05 22:29654674 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 synonymous_variant 1.364313 0.90723 0.2275 0.706548 0.67392173567076 0 0.999923343294104 TRUE 0.000101582 ENSE00001323333_007 ENSE00001323333 007 22 30050590 30050759 + 56 69 45 C T 30050676 456 87 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGTGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 29654686 29654687 29654687 exon 31 0.449275362318841 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGTGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 307 369 0.996599766259118 1 0.998299883129559 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.187501442683456 0.00366757072799873 0.996556296590032 0.902715376423831 NA 0.0955845067057275 NA FALSE NA 1 3.976 rs150667239 intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 rs150667239&COSM1685298&COSM1685299 1 NA T:0 T:0.0001 GCG C,T 8.236e-06 22:29654687 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 missense_variant 7.498675 0.95503 0.8814 0.706548 0.999283000057682 0 0.999923343294104 TRUE 8.12519e-06 ENSE00001323333_008 ENSE00001323333 008 22 30050590 30050759 + 56 69 45 A T 30050695 457 106 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGTGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 29654705 29654706 29654706 exon -20 0.72463768115942 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGTGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 839 665 0.853458943807441 1 0.92672947190372 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.0443606202317794 0.00366757072799873 0.996556296590032 0.902715376423831 NA 0.0240140954798891 NA FALSE NA 1 9.189 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 COSM1685304&COSM1685305 1 NA GAG A,T 8.236e-06 22:29654706 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 missense_variant 5.008855 0.97055 0.96131 0.706298 0.994061095549444 0 0.999923343294104 TRUE 4.06197e-06 ENSE00001323333_009 ENSE00001323333 009 22 30050590 30050759 + 56 69 45 G A 30050713 458 124 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAAGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 29654723 29654724 29654724 exon -2 0.985507246376812 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAAGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 139 790 0.99547255612259 0.998443403804408 0.996957979963499 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.186374232546929 0.00211097453240705 0.996556296590032 0.902715376423831 NA 0.094242603539668 NA FALSE NA 1 7.911 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 COSM1685306&COSM1685307 1 NA AGG G,A 8.236e-06 22:29654724 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 missense_variant 3.434591 0.9645 0.92913 0.706298 0.992242252166026 0 0.999923343294104 TRUE 4.06161e-06 ENSE00001323333_011 ENSE00001323333 011 22 30050590 30050759 + 56 69 45 A G 30050738 460 149 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCGGGAAGACATAGCAGATATGTG 29654600 29654770 29654748 29654749 29654749 downstr_intron 24 1.54545454545455 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCGGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 738 118 0.994324276720576 1 0.997162138360288 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.185225953144914 0.00366757072799873 0.996556296590032 0.902715376423831 NA 0.0944467619364563 NA FALSE NA 0.459 2.016 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 1 NA CAG A,G 8.236e-06 22:29654749 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 intron_variant 0.637254 0.18241 0.01527 0.062308 0.773822877559579 0.115137 0.999923343294104 TRUE 2.43762e-05 ENSE00001323333_012 ENSE00001323333 012 22 30050590 30050759 + 56 69 45 A G 30050746 461 157 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACGTAGCAGATATGTG 29654600 29654770 29654756 29654757 29654757 downstr_intron 32 1.72727272727273 GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACGTAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG mutant NA NA NA NA NA 536 637 0.992013820122501 0.999580694424623 0.995797257273562 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 NA NA 0.182915496546839 0.00324826515262167 0.996556296590032 0.902715376423831 NA 0.0930818808497303 NA FALSE NA 0 -0.399 . intron_variant MODIFIER NF2 HGNC 7773 ENST00000347330 2/9 rs370848861 1 NA G:0 G:0.0005 CAT A,G 0.0001483 22:29654757 NF2 HGNC Symbol protein_coding 95042 ENSG00000186575 ENSE00001323333 intron_variant 0.93085 0.18196 0.04775 0.062308 0.70929991317403 0.115137 0.999923343294104 TRUE 0.000166617 ENSE00001323333_BRK ENSE00001323333 BRK 22 30050590 30050759 + 56 69 45 A,G; T,T NA NA NA GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCTTTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGCCAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG 29654600 29654770 NA NA NA NA NA NA GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCTTTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGCCAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG GAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTG control 41 48 0 0 0 459 482 0.0276313055001723 0 0.0138156527500861 0.996923801806141 0.996188791373923 0.809098323575662 0.996332429272001 -0.996923801806141 -0.996188791373923 -0.781467018075489 -0.996332429272001 0.996556296590032 0.902715376423831 -0.996556296590032 -0.888899723673745 0.107656572916287 TRUE TRUE NA NA NA NA NA NF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NF2 NA NA NA ENSG00000186575 ENSE00001323333 NA NA NA NA NA NA NA 0.999923343294104 TRUE NA ENSE00001323708_000 ENSE00001323708 000 14 72943409 72943578 + 41 99 30 NA NA NA NA NA CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 NA NA NA NA NA NA TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG natural NA NA NA NA NA 2340 1239 0.996256534115306 0.995470468068462 0.995863501091884 NA NA 0.996256534115306 0.995470468068462 NA NA 0 0 NA 0.995863501091884 NA 0 NA FALSE NA NA NA NA NA NA RGS6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS6 NA NA NA ENSG00000182732 ENSE00003680568 NA NA NA NA NA NA NA 0.801361182566502 FALSE NA ENSE00001323708_001 ENSE00001323708 001 14 72943409 72943578 + 41 99 30 G A 72943422 921 14 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATTATCCACCCACAGA 72476700 72476870 72476713 72476714 72476714 upstr_intron -28 -0.658536585365854 TCTGTGGGTGGATAATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 848 731 0.995451028718718 0.99586687875983 0.995658953739274 NA NA 0.996256534115306 0.995470468068462 NA NA -0.000805505396587747 0.000396410691368643 NA 0.995863501091884 NA -0.000204547352609552 NA FALSE NA 0.002 0.285 . intron_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 8/9 rs199889788 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGA G,A 8.237e-06 14:72476714 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 intron_variant 0.360141 0.2809 0.04107 0.126639 0.626008561789101 0.0581323 0.801361182566502 FALSE 4.11063e-06 ENSE00001323708_002 ENSE00001323708 002 14 72943409 72943578 + 41 99 30 C G 72943428 922 20 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACACAGGATCATCCACCCACAGA 72476700 72476870 72476719 72476720 72476720 upstr_intron -22 -0.51219512195122 TCTGTGGGTGGATGATCCTGTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 335 569 1 0.991568587792923 0.995784293896462 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00374346588469443 -0.00390188027553828 NA 0.995863501091884 NA -7.92071954219264e-05 NA FALSE NA 0 -2.099 . intron_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 8/9 1 NA TCT C,G 1.647e-05 14:72476720 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 intron_variant -0.10161 0.20751 0.05536 0.126639 0.402522637256835 0.0581323 0.801361182566502 FALSE 8.17241e-06 ENSE00001323708_005 ENSE00001323708 005 14 72943409 72943578 + 41 99 30 C T 72943446 925 38 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAAGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476737 72476738 72476738 upstr_intron -4 -0.0731707317073171 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCTTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant 112 133 0.85 0.85 0.85 260 295 0.835600917420079 0.809813427657661 0.82270717253887 NA NA 0.996256534115306 0.995470468068462 NA NA -0.160655616695227 -0.185657040410801 NA 0.995863501091884 NA -0.173156328553014 NA FALSE NA 0.003 -0.091 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RGS6 HGNC 10002 ENST00000555368 8/9 1 NA CCT C,T 8.237e-06 14:72476738 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 splice_region_variant 0.815277 0.30668 0.08145 0.126639 0.573026623065864 0.231949 0.801361182566502 FALSE 4.06858e-06 ENSE00001323708_006 ENSE00001323708 006 14 72943409 72943578 + 41 99 30 C G 72943451 926 43 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGCACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476742 72476743 72476743 exon 2 0.0202020202020202 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTGCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 126 426 1 0.994739791196454 0.997369895598227 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00374346588469443 -0.000730676872008118 NA 0.995863501091884 NA 0.00150639450634316 NA FALSE NA 1 7.319 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW RGS6 HGNC 10002 ENST00000555368 9/10 COSM3401450&COSM3401449&COSM3401451 1 NA TCC C,G 8.236e-06 14:72476743 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 2.420206 0.97802 0.96066 0.497415 0.989077061223168 0 0.801361182566502 FALSE 4.06696e-06 ENSE00001323708_007 ENSE00001323708 007 14 72943409 72943578 + 41 99 30 G A 72943453 927 45 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACATGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476744 72476745 72476745 exon 4 0.0404040404040404 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCATGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 605 190 0.997995383834483 1 0.998997691917241 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00173884971917726 0.00452953193153838 NA 0.995863501091884 NA 0.00313419082535782 NA FALSE NA 1 9.256 NA NA NA RGS6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:72476745 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 4.382297 0.97764 0.96657 0.497415 0.966792884203638 0 0.801361182566502 FALSE 3.25182e-05 ENSE00001323708_009 ENSE00001323708 009 14 72943409 72943578 + 41 99 30 A G 72943457 929 49 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCACACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476748 72476749 72476749 exon 8 0.0808080808080808 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTGTGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 91 938 1 0.999959417544886 0.999979708772443 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00374346588469443 0.00448894947642453 NA 0.995863501091884 NA 0.00411620768055948 NA FALSE NA 1 8.755 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 rs369593987 1 NA G:0 G:0.0001 TAT A,G 8.236e-06 14:72476749 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 4.223912 0.97255 0.96502 0.497415 0.997226658272512 0 0.801361182566502 FALSE 4.06349e-06 ENSE00001323708_010 ENSE00001323708 010 14 72943409 72943578 + 41 99 30 G C 72943462 930 54 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCAGGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476753 72476754 72476754 exon 13 0.131313131313131 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCCTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 619 25 1 1 1 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00374346588469443 0.00452953193153838 NA 0.995863501091884 NA 0.0041364989081164 NA FALSE NA 0.999 2.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:72476754 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 1.139956 0.89656 0.74368 0.497415 0.579154243315627 0 0.801361182566502 FALSE 4.06345e-06 ENSE00001323708_011 ENSE00001323708 011 14 72943409 72943578 + 41 99 30 G A 72943462 931 54 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCATGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476753 72476754 72476754 exon 13 0.131313131313131 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCATGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 128 181 0.992704937169203 0.996343586878603 0.994524262023903 NA NA 0.996256534115306 0.995470468068462 NA NA -0.00355159694610252 0.000873118810141627 NA 0.995863501091884 NA -0.00133923906798045 NA FALSE NA 0.999 2.055 NA NA NA RGS6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS6 NA NA NA ENSG00000182732 ENSE00003680568 missense_variant 2.844724 0.89785 0.76353 0.497415 0.9841814404417 0 0.801361182566502 FALSE 6.90787e-05 ENSE00001323708_012 ENSE00001323708 012 14 72943409 72943578 + 41 99 30 C A 72943466 932 58 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCATTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476757 72476758 72476758 exon 17 0.171717171717172 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGAATGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 46 277 0.996651731160469 1 0.998325865580234 NA NA 0.996256534115306 0.995470468068462 NA NA 0.000395197045162998 0.00452953193153838 NA 0.995863501091884 NA 0.00246236448835069 NA FALSE NA 0.903 2.619 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 1 NA ACT C,A 8.236e-06 14:72476758 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 2.018287 0.93435 0.46912 0.497415 0.951958989890593 0 0.801361182566502 FALSE NA ENSE00001323708_013 ENSE00001323708 013 14 72943409 72943578 + 41 99 30 G A 72943473 933 65 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGATTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476764 72476765 72476765 exon 24 0.242424242424242 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAATCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 236 101 1 0.998430892060891 0.999215446030445 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00374346588469443 0.00296042399242935 NA 0.995863501091884 NA 0.00335194493856189 NA FALSE NA 0.126 -0.332 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 1 NA AGT G,A 1.647e-05 14:72476765 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 synonymous_variant 0.459445 0.3355 0.12144 0.497415 0.63827662439777 0 0.801361182566502 FALSE 1.21851e-05 ENSE00001323708_015 ENSE00001323708 015 14 72943409 72943578 + 41 99 30 G A 72943491 935 83 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACTGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476782 72476783 72476783 exon 42 0.424242424242424 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCAGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 1429 114 0.998617870025717 1 0.999308935012859 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00236133591041177 0.00452953193153838 NA 0.995863501091884 NA 0.00344543392097507 NA FALSE NA 0 -2.129 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 1 NA CGG G,A 8.236e-06 14:72476783 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 synonymous_variant 0.111188 0.21504 0.09075 0.497415 0.881381534601285 0 0.801361182566502 FALSE 2.43679e-05 ENSE00001323708_017 ENSE00001323708 017 14 72943409 72943578 + 41 99 30 A G 72943516 937 108 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCCCGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476807 72476808 72476808 exon -33 0.676767676767677 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCGGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 75 862 0.893054364265967 0.998709299663572 0.94588183196477 NA NA 0.996256534115306 0.995470468068462 NA NA -0.103202169849338 0.00323883159511029 NA 0.995863501091884 NA -0.0499816691271139 NA FALSE NA 1 5.454 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 rs200937222 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAG A,G 8.236e-06 14:72476808 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 3.449002 0.96204 0.9138 0.497415 0.982132558472007 0 0.801361182566502 FALSE 4.06118e-06 ENSE00001323708_018 ENSE00001323708 018 14 72943409 72943578 + 41 99 30 G A 72943517 938 109 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTTGTTTTCTTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476808 72476809 72476809 exon -32 0.686868686868687 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAAGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 218 60 1 1 1 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00374346588469443 0.00452953193153838 NA 0.995863501091884 NA 0.0041364989081164 NA FALSE NA 1 5.853 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 rs542495277 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 AGG G,A 0.0001071 14:72476809 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 1.101636 0.98293 0.9453 0.497415 0.876881210823105 0 0.801361182566502 FALSE 7.71649e-05 ENSE00001323708_019 ENSE00001323708 019 14 72943409 72943578 + 41 99 30 A G 72943524 939 116 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGATGTCCTCTTTTGTCGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476815 72476816 72476816 exon -25 0.757575757575758 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACGACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 188 884 0.993935590863053 0.986895545348275 0.990415568105664 NA NA 0.996256534115306 0.995470468068462 NA NA -0.00232094325225241 -0.00857492272018645 NA 0.995863501091884 NA -0.00544793298621943 NA FALSE NA 0 -2.52 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 1 NA CAA A,G 8.236e-06 14:72476816 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 synonymous_variant -0.968481 0.25936 0.09074 0.497415 0.437496367954856 0 0.801361182566502 FALSE 4.06118e-06 ENSE00001323708_021 ENSE00001323708 021 14 72943409 72943578 + 41 99 30 A T 72943537 941 129 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCCGGAAGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476828 72476829 72476829 exon -12 0.888888888888889 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACTTCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant NA NA NA NA NA 111 447 1 0.994994678864319 0.997497339432159 NA NA 0.996256534115306 0.995470468068462 NA NA 0.00374346588469443 -0.000475789204142929 NA 0.995863501091884 NA 0.00163383834027575 NA FALSE NA 0.918 0.112 rs143112428 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 rs143112428 1 NA T:0.0002 T:0.0001 CAT A,T 8.236e-06 14:72476829 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 2.323517 0.92774 0.61438 0.497415 0.96021981795315 0 0.801361182566502 FALSE 8.12334e-06 ENSE00001323708_022 ENSE00001323708 022 14 72943409 72943578 + 41 99 30 G A 72943541 942 133 CCTGAGAGTGCAAGCTGTCAATTCATTCACCTGTTTCTGGATGTCCTCTTTTGTTGTTTTCCTGATTGGTTGGCTGAGTACATGCACCGGGCTCTGTGCCTGGGACTCTTCAGTCACGCCATACACGGACTAGGAGAAGAAGCAAGCACAGAGGATCATCCACCCACAGA 72476700 72476870 72476832 72476833 72476833 exon -8 0.929292929292929 TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCAGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG TCTGTGGGTGGATGATCCTCTGTGCTTGCTTCTTCTCCTAGTCCGTGTATGGCGTGACTGAAGAGTCCCAGGCACAGAGCCCGGTGCATGTACTCAGCCAACCAATCAGGAAAACAACAAAAGAGGACATCCGGAAACAGGTGAATGAATTGACAGCTTGCACTCTCAGG mutant 65 71 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.996256534115306 0.995470468068462 NA NA NA NA NA 0.995863501091884 NA NA NA NA NA 1 3.495 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RGS6 HGNC 10002 ENST00000555368 9/10 1 NA CGG G,A 8.236e-06 14:72476833 RGS6 HGNC Symbol protein_coding 634090 ENSG00000182732 ENSE00003680568 missense_variant 2.69594 0.96415 0.79962 0.713056 0.899657383723076 0 0.801361182566502 FALSE 4.06237e-06 ENSE00001324758_000 ENSE00001324758 000 7 157387889 157388058 - 41 78 51 NA NA NA NA NA AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 NA NA NA NA NA NA AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG natural 47 39 0.995132315813133 0.98808993531701 0.991611125565071 5681 5231 0.993989420167601 0.914848247935695 0.954418834051648 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 0 0 0 0 0.991611125565071 0.954418834051648 0 0 0 FALSE FALSE NA NA NA NA NA PTPRN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPRN2 NA NA NA ENSG00000155093 ENSE00001324758 NA NA NA NA NA NA NA 0.0165571526676371 FALSE NA ENSE00001324758_001 ENSE00001324758 001 7 157387889 157388058 - 41 78 51 G T 157387903 3216 156 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTATTTCTGAAAAGAAG 157595196 157595366 157595210 157595211 157595211 downstr_intron 27 1.675 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTATTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1434 355 0.999913873454435 0.997041328581716 0.998477601018075 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00592445328683422 0.0821930806460209 0.991611125565071 0.954418834051648 NA 0.0440587669664276 NA FALSE NA 0 0.63 . intron_variant MODIFIER PTPRN2 HGNC 9677 ENST00000409483 16/21 rs367917256 1 NA T:0.0002 T:0 AGA G,T 8.236e-06 7:157595211 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant -0.04295 0.26348 0.02771 0.095506 0.700497632489283 0.089272 0.0165571526676371 FALSE 4.06686e-06 ENSE00001324758_002 ENSE00001324758 002 7 157387889 157388058 - 41 78 51 G A 157387905 3217 154 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTTTCTTTCTGAAAAGAAG 157595196 157595366 157595212 157595213 157595213 downstr_intron 25 1.625 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTTTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1095 913 0.999774283906538 0.999826738409619 0.999800511158079 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00578486373893727 0.0849784904739248 0.991611125565071 0.954418834051648 NA 0.045381677106431 NA FALSE NA 0 0.616 . intron_variant MODIFIER PTPRN2 HGNC 9677 ENST00000409483 16/21 1 NA AGA G,A 2.471e-05 7:157595213 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant 0.017406 0.12025 0.00274 0.095506 0.810321310922747 0.089272 0.0165571526676371 FALSE 8.13094e-06 ENSE00001324758_003 ENSE00001324758 003 7 157387889 157388058 - 41 78 51 G A 157387924 3218 135 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAATATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595231 157595232 157595232 downstr_intron 6 1.15 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAATATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 704 2962 1 0.944141852431565 0.972070926215783 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00601057983239917 0.0292936044958706 0.991611125565071 0.954418834051648 NA 0.0176520921641349 NA FALSE NA 0.029 0.354 . splice_region_variant&intron_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/21 rs201122559 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 8.236e-06 7:157595232 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 splice_region_variant 0.110299 0.12888 0.03685 0.095506 0.823132667631303 0.152423 0.0165571526676371 FALSE 4.06204e-06 ENSE00001324758_004 ENSE00001324758 004 7 157387889 157388058 - 41 78 51 C T 157387947 3219 112 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCATGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595254 157595255 157595255 exon -18 0.782051282051282 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCATGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1886 1069 0.998916516936229 0.995254896276566 0.997085706606398 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00492709676862824 0.0804066483408713 0.991611125565071 0.954418834051648 NA 0.0426668725547498 NA FALSE NA 1 5.557 rs181178917 missense_variant MODERATE PTPRN2 HGNC 9677 ENST00000409483 16/22 rs181178917 1 deleterious(0) probably_damaging(1) T:0.0004 T:0 T:0.0029 NA T:0 T:0 T:0 ACG C,T 9.884e-05 7:157595255 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 missense_variant 6.736078 0.95943 0.96214 0.582742 0.998670375173159 0 0.0165571526676371 FALSE 8.93394e-05 ENSE00001324758_005 ENSE00001324758 005 7 157387889 157388058 - 41 78 51 G A 157387948 3220 111 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACTGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595255 157595256 157595256 exon -19 0.769230769230769 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACTGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1605 380 0.999305635577305 1 0.999652817788652 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00531621540970384 0.0851517520643054 0.991611125565071 0.954418834051648 NA 0.0452339837370046 NA FALSE NA 0.001 -2.011 rs186217642 synonymous_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/22 rs186217642 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0001 CGG G,A 4.118e-05 7:157595256 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 0.472496 0.09544 0.11722 0.582742 0.894313870855714 0 0.0165571526676371 FALSE 8.12196e-05 ENSE00001324758_006 ENSE00001324758 006 7 157387889 157388058 - 41 78 51 C T 157387953 3221 106 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCACCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595260 157595261 157595261 exon -24 0.705128205128205 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCACCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 2035 3214 0.997647026584754 0.969133768540756 0.983390397562755 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.0036576064171534 0.0542855206050618 0.991611125565071 0.954418834051648 NA 0.0289715635111076 NA FALSE NA 0.947 1.358 . missense_variant MODERATE PTPRN2 HGNC 9677 ENST00000409483 16/22 COSM1726569&COSM1726570 1 tolerated(0.46) possibly_damaging(0.65) NA GCG C,T 8.236e-06 7:157595261 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 missense_variant 3.23535 0.72392 0.78094 0.582742 0.943374636508092 0 0.0165571526676371 FALSE 1.62437e-05 ENSE00001324758_007 ENSE00001324758 007 7 157387889 157388058 - 41 78 51 G A 157387954 3222 105 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCTGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595261 157595262 157595262 exon -25 0.692307692307692 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCTGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1762 385 1 1 1 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00601057983239917 0.0851517520643054 0.991611125565071 0.954418834051648 NA 0.0455811659483523 NA FALSE NA 0.564 -0.688 rs150956578 synonymous_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/22 rs150956578 1 NA A:0.0005 A:0.0002 CGG G,A 0.0001235 7:157595262 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 0.643457 0.50017 0.24229 0.582742 0.870062072234379 0 0.0165571526676371 FALSE 9.74667e-05 ENSE00001324758_008 ENSE00001324758 008 7 157387889 157388058 - 41 78 51 C T 157387960 3223 99 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCACTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595267 157595268 157595268 exon -31 0.615384615384615 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCACTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1589 289 0.999974098280113 0.997849671217086 0.9989118847486 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00598467811251224 0.0830014232813918 0.991611125565071 0.954418834051648 NA 0.044493050696952 NA FALSE NA 0 -2.983 . synonymous_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/22 COSM600448&COSM1650698 1 NA GCG C,T 2.471e-05 7:157595268 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 1.106587 0.13999 0.10133 0.582742 0.923364750456754 0 0.0165571526676371 FALSE 2.84264e-05 ENSE00001324758_009 ENSE00001324758 009 7 157387889 157388058 - 41 78 51 G A 157387969 3224 90 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACTCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595276 157595277 157595277 exon 39 0.5 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACTCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 306 304 0.997553760270159 0.997067721395136 0.997310740832648 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00356434010255802 0.0822194734594417 0.991611125565071 0.954418834051648 NA 0.0428919067809999 NA FALSE NA 1 0.713 . synonymous_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/22 1 NA GGG G,A 8.236e-05 7:157595277 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 0.760356 0.92036 0.8789 0.582742 0.812636515199054 0 0.0165571526676371 FALSE 7.71549e-05 ENSE00001324758_010 ENSE00001324758 010 7 157387889 157388058 - 41 78 51 C A 157387974 3225 85 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCTCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595281 157595282 157595282 exon 34 0.435897435897436 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCTCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 871 359 0.999952742122213 0.994503124557872 0.997227933340042 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00596332195461236 0.079654876622177 0.991611125565071 0.954418834051648 NA 0.0428090992883947 NA FALSE NA 1 2.869 . missense_variant MODERATE PTPRN2 HGNC 9677 ENST00000409483 16/22 1 deleterious(0.05) probably_damaging(0.987) NA GCG C,A 8.236e-06 7:157595282 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 missense_variant 5.265674 0.92772 0.92866 0.582742 0.996716834249194 0 0.0165571526676371 FALSE 4.06075e-06 ENSE00001324758_011 ENSE00001324758 011 7 157387889 157388058 - 41 78 51 G A 157387975 3226 84 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATTGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595282 157595283 157595283 exon 33 0.423076923076923 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATTGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 36 373 0.991712868466481 0.989614334820699 0.99066360164359 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA -0.00227655170111984 0.0747660868850043 0.991611125565071 0.954418834051648 NA 0.0362447675919422 NA FALSE NA 0.984 0.143 . synonymous_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/22 1 NA CGA G,A 8.236e-06 7:157595283 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 1.517896 0.87541 0.81479 0.582742 0.907586874961651 0 0.0165571526676371 FALSE 8.1217e-06 ENSE00001324758_012 ENSE00001324758 012 7 157387889 157388058 - 41 78 51 C T 157387981 3227 78 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCATACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595288 157595289 157595289 exon 27 0.346153846153846 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCATACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1935 1746 0.998117200593283 0.999847278405114 0.998982239499198 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00412778042568196 0.0849990304694189 0.991611125565071 0.954418834051648 NA 0.0445634054475504 NA FALSE NA 0 -4.578 rs139538258 synonymous_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/22 rs139538258&COSM81625 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0011 T:0.0001 ACG C,T 0.0001153 7:157595289 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 1.936082 0.24554 0.09253 0.764865 0.895346299374646 0 0.0165571526676371 FALSE 7.30953e-05 ENSE00001324758_013 ENSE00001324758 013 7 157387889 157388058 - 41 78 51 C T 157387983 3228 76 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCACGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595290 157595291 157595291 exon 25 0.320512820512821 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCACGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1113 1752 0.995972626917711 0.999978275206379 0.997975451062045 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00198320675011054 0.0851300272706847 0.991611125565071 0.954418834051648 NA 0.0435566170103976 NA FALSE NA 0.99 2.221 . missense_variant MODERATE PTPRN2 HGNC 9677 ENST00000409483 16/22 COSM1177614 1 deleterious(0.04) benign(0.231) NA GCG C,T 1.647e-05 7:157595291 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 missense_variant 3.143874 0.92744 0.92063 0.764865 0.997711097218204 0 0.0165571526676371 FALSE 4.06088e-06 ENSE00001324758_014 ENSE00001324758 014 7 157387889 157388058 - 41 78 51 G C 157387984 3229 75 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCGGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595291 157595292 157595292 exon 24 0.307692307692308 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCGGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 2050 1355 0.950694956396231 0.931557305324136 0.941126130860184 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA -0.0432944637713698 0.0167090573884415 0.991611125565071 0.954418834051648 NA -0.0132927031914641 NA FALSE NA 0.093 -0.735 NA NA NA PTPRN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:157595292 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 0.504356 0.80076 0.41337 0.764865 0.640356311689261 0 0.0165571526676371 FALSE 0.0435565 ENSE00001324758_016 ENSE00001324758 016 7 157387889 157388058 - 41 78 51 G A 157387986 3231 73 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACTCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595293 157595294 157595294 exon 22 0.282051282051282 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACTCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1986 2578 0.999293322395071 0.994355160045334 0.996824241220203 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00530390222747024 0.0795069121096393 0.991611125565071 0.954418834051648 NA 0.0424054071685548 NA FALSE NA 1 8.771 . missense_variant MODERATE PTPRN2 HGNC 9677 ENST00000409483 16/22 1 deleterious(0) probably_damaging(1) NA GGG G,A 3.295e-05 7:157595294 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 missense_variant 5.504659 0.96928 0.98618 0.764865 0.999306461327936 0 0.0165571526676371 FALSE 2.84262e-05 ENSE00001324758_017 ENSE00001324758 017 7 157387889 157388058 - 41 78 51 G C 157387987 3232 72 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAAGCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595294 157595295 157595295 exon 21 0.269230769230769 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAAGCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1529 960 1 0.984204573772518 0.992102286886259 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00601057983239917 0.0693563258368232 0.991611125565071 0.954418834051648 NA 0.0376834528346112 NA FALSE NA 0.291 -0.786 . missense_variant MODERATE PTPRN2 HGNC 9677 ENST00000409483 16/22 1 tolerated(0.26) benign(0.079) NA GGT G,C 8.236e-06 7:157595295 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 missense_variant 1.383699 0.90314 0.55734 0.764865 0.985135493274377 0 0.0165571526676371 FALSE 4.06091e-06 ENSE00001324758_019 ENSE00001324758 019 7 157387889 157388058 - 41 78 51 C T 157387993 3234 66 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCAAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595300 157595301 157595301 exon 15 0.192307692307692 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCAAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 630 1234 0.999344934062355 0.998756770972525 0.99905085251744 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00535551389475386 0.0839085230368305 0.991611125565071 0.954418834051648 NA 0.0446320184657922 NA FALSE NA 0.009 -1.899 rs139627101 synonymous_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/22 rs139627101 1 T:0.0042 T:0.0159 T:0 NA T:0 T:0 T:0 T:0.01 T:0 TCG C,T 0.001038 7:157595301 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 1.13231 0.21437 0.13856 0.764865 0.936599979880264 0 0.0165571526676371 FALSE 0.000791897 ENSE00001324758_020 ENSE00001324758 020 7 157387889 157388058 - 41 78 51 G A 157387999 3235 60 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCATGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595306 157595307 157595307 exon 9 0.115384615384615 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCATGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1356 665 0.994728831656286 0.998789076883761 0.996758954270023 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.000739411488685171 0.0839408289480661 0.991611125565071 0.954418834051648 NA 0.0423401202183756 NA FALSE NA 0.415 -0.239 rs140246794 synonymous_variant LOW PTPRN2 HGNC 9677 ENST00000409483 16/22 rs140246794 1 NA A:0 A:0.0001 CGT G,A 0.0001235 7:157595307 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 synonymous_variant 0.229225 0.84506 0.35208 0.635344 0.908858458555232 0 0.0165571526676371 FALSE 0.000150266 ENSE00001324758_021 ENSE00001324758 021 7 157387889 157388058 - 41 78 51 A G 157388012 3236 47 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCCGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595319 157595320 157595320 upstr_intron -5 -0.0784313725490196 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCCGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 510 334 1 0.999198392554883 0.999599196277442 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00601057983239917 0.0843501446191883 0.991611125565071 0.954418834051648 NA 0.0451803622257937 NA FALSE NA 0 0.498 rs73163814 splice_region_variant&intron_variant LOW PTPRN2 HGNC 9677 ENST00000409483 15/21 rs73163814 1 G:0.1510 G:0.3298 G:0.1066 NA G:0.004 G:0.1223 G:0.1217 G:0.2798 G:0.1327 CAG G,G 0.125 7:157595320 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 splice_region_variant -0.208199 0.21626 0.16049 0.118714 0.473248044578232 0.160665 0.0165571526676371 FALSE 0.118069 ENSE00001324758_022 ENSE00001324758 022 7 157387889 157388058 - 41 78 51 A G 157388016 3237 43 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGCCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595323 157595324 157595324 upstr_intron -9 -0.156862745098039 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGCCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 523 958 0.997051679329535 0.988540970017543 0.992796324673539 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00306225916193426 0.0736927220818487 0.991611125565071 0.954418834051648 NA 0.0383774906218915 NA FALSE NA 0.025 1.824 . intron_variant MODIFIER PTPRN2 HGNC 9677 ENST00000409483 15/21 rs202188821 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GAC A,G 4.118e-05 7:157595324 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant 0.571599 0.39634 0.49657 0.118714 0.755645655542965 0.189646 0.0165571526676371 FALSE 5.28047e-05 ENSE00001324758_023 ENSE00001324758 023 7 157387889 157388058 - 41 78 51 A C 157388026 3238 33 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGGGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595333 157595334 157595334 upstr_intron -19 -0.352941176470588 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGGGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1146 862 0.938209641064408 1 0.969104820532204 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA -0.0557797791031931 0.0851517520643054 0.991611125565071 0.954418834051648 NA 0.0146859864805561 NA FALSE NA 0 0.303 . intron_variant MODIFIER PTPRN2 HGNC 9677 ENST00000409483 15/21 1 NA CAC A,C 0.0001977 7:157595334 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant -0.594499 0.17755 0.05924 0.118714 0.378982110783202 0.110502 0.0165571526676371 FALSE 0.000215421 ENSE00001324758_024 ENSE00001324758 024 7 157387889 157388058 - 41 78 51 C T 157388027 3239 32 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGATGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595334 157595335 157595335 upstr_intron -20 -0.372549019607843 AGGCTTCCTAATCTCCTGGCTAACCGCTGTGATGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 2321 707 0.994805177749953 0.99977623988906 0.997290708819507 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.000815757582352639 0.0849279919533656 0.991611125565071 0.954418834051648 NA 0.0428718747678591 NA FALSE NA 0 -2.742 . intron_variant MODIFIER PTPRN2 HGNC 9677 ENST00000409483 15/21 1 NA ACC C,T 8.236e-06 7:157595335 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant -0.119864 0.13614 0.028 0.118714 0.727108098043107 0.0524785 0.0165571526676371 FALSE NA ENSE00001324758_025 ENSE00001324758 025 7 157387889 157388058 - 41 78 51 C A 157388033 3240 26 AGGCTTCCTAATCTCCTGGCTAACCTCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595340 157595341 157595341 upstr_intron -26 -0.490196078431373 AGGCTTCCTAATCTCCTGGCTAACCTCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 123 341 0.999664938747622 1 0.999832469373811 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.0056755185800208 0.0851517520643054 0.991611125565071 0.954418834051648 NA 0.0454136353221631 NA FALSE NA 0 -1.743 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:157595341 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant 0.376149 0.12544 0.03252 0.118714 0.55538904334218 0.0524785 0.0165571526676371 FALSE 4.47569e-05 ENSE00001324758_026 ENSE00001324758 026 7 157387889 157388058 - 41 78 51 C T 157388033 3241 26 AGGCTTCCTAATCTCCTGGCTAACCACTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595340 157595341 157595341 upstr_intron -26 -0.490196078431373 AGGCTTCCTAATCTCCTGGCTAACCACTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 447 726 1 0.999262729169692 0.999631364584846 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00601057983239917 0.0844144812339978 0.991611125565071 0.954418834051648 NA 0.0452125305331985 NA FALSE NA 0 -1.743 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPRN2 NA NA NA ENSG00000155093 ENSE00001324758 intron_variant 0.179125 0.166 0.06475 0.118714 0.670055077151773 0.0524785 0.0165571526676371 FALSE 1.22064e-05 ENSE00001324758_027 ENSE00001324758 027 7 157387889 157388058 - 41 78 51 G A 157388034 3242 25 AGGCTTCCTAATCTCCTGGCTAACTGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595341 157595342 157595342 upstr_intron -27 -0.509803921568627 AGGCTTCCTAATCTCCTGGCTAACTGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 908 742 0.998861379078388 0.989796960501851 0.99432916979012 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00487195891078751 0.0749487125661567 0.991611125565071 0.954418834051648 NA 0.0399103357384721 NA FALSE NA 0 0.219 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:157595342 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant 0.148438 0.17976 0.1529 0.118714 0.591609318350494 0.0524785 0.0165571526676371 FALSE 2.44557e-05 ENSE00001324758_028 ENSE00001324758 028 7 157387889 157388058 - 41 78 51 G C 157388034 3243 25 AGGCTTCCTAATCTCCTGGCTAACGGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595341 157595342 157595342 upstr_intron -27 -0.509803921568627 AGGCTTCCTAATCTCCTGGCTAACGGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1673 1161 0.971554969564924 0.997743464200773 0.984649216882848 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA -0.0224344506026766 0.082895216265078 0.991611125565071 0.954418834051648 NA 0.0302303828312007 NA FALSE NA 0 0.219 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPRN2 NA NA NA ENSG00000155093 ENSE00001324758 intron_variant -0.15114 0.19898 0.22355 0.118714 0.399915747215659 0.0524785 0.0165571526676371 FALSE 4.07594e-06 ENSE00001324758_029 ENSE00001324758 029 7 157387889 157388058 - 41 78 51 G A 157388035 3244 24 AGGCTTCCTAATCTCCTGGCTAATCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595342 157595343 157595343 upstr_intron -28 -0.529411764705882 AGGCTTCCTAATCTCCTGGCTAATCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 1586 745 0.997772897348552 1 0.998886448674276 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.00378347718095107 0.0851517520643054 0.991611125565071 0.954418834051648 NA 0.0444676146226282 NA FALSE NA 0 -0.198 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:157595343 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant -0.167589 0.10255 0.05068 0.118714 0.784648983235561 0.0524785 0.0165571526676371 FALSE 1.6288e-05 ENSE00001324758_030 ENSE00001324758 030 7 157387889 157388058 - 41 78 51 G T 157388035 3245 24 AGGCTTCCTAATCTCCTGGCTAAACGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595342 157595343 157595343 upstr_intron -28 -0.529411764705882 AGGCTTCCTAATCTCCTGGCTAAACGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 348 755 0.997790890561665 0.836252770635916 0.917021830598791 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA 0.0038014703940642 -0.0785954772997782 0.991611125565071 0.954418834051648 NA -0.037397003452857 NA FALSE NA 0 -0.198 NA NA NA PTPRN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPRN2 NA NA NA ENSG00000155093 ENSE00001324758 intron_variant -0.305594 0.10744 0.12758 0.118714 0.653695130790867 0.0524785 0.0165571526676371 FALSE 4.07199e-06 ENSE00001324758_031 ENSE00001324758 031 7 157387889 157388058 - 41 78 51 A G 157388038 3246 21 AGGCTTCCTAATCTCCTGGCCAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 157595345 157595346 157595346 upstr_intron -31 -0.588235294117647 AGGCTTCCTAATCTCCTGGCCAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG mutant NA NA NA NA NA 908 155 0.989160365394146 1 0.994580182697073 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 NA NA -0.00482905477345452 0.0851517520643054 0.991611125565071 0.954418834051648 NA 0.0401613486454254 NA FALSE NA 0.001 0.404 . intron_variant MODIFIER PTPRN2 HGNC 9677 ENST00000409483 15/21 1 NA TAG A,G 3.295e-05 7:157595346 PTPRN2 HGNC Symbol protein_coding 1048732 ENSG00000155093 ENSE00001324758 intron_variant 0.038061 0.20367 0.11361 0.118714 0.632282070150286 0.0524785 0.0165571526676371 FALSE 2.44581e-05 ENSE00001324758_BRK ENSE00001324758 BRK 7 157387889 157388058 - 41 78 51 A,G; T,T NA NA NA AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCTTATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGCCGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG 157595196 157595366 NA NA NA NA NA NA AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCTTATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGCCGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG AGGCTTCCTAATCTCCTGGCTAACCGCTGTGGTGTGGTCTTGTCTCTGCAGATGGATCACGACCCGAGGAACCCCGCGTACATCGCCACCCAGGGACCGCTGCCCGCCACCGTGGCTGACTTTTGGCAGGTGAACATTTTTAAATTAAAATCTCTCTTTCTGAAAAGAAG control 148 78 0 0.103783684688465 0.0518918423442324 NA NA NA NA NA 0.995132315813133 0.98808993531701 0.993989420167601 0.914848247935695 -0.995132315813133 -0.884306250628545 NA NA 0.991611125565071 0.954418834051648 -0.939719283220839 NA NA NA TRUE NA NA NA NA NA PTPRN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPRN2 NA NA NA ENSG00000155093 ENSE00001324758 NA NA NA NA NA NA NA 0.0165571526676371 FALSE NA ENSE00001324940_000 ENSE00001324940 000 2 28772824 28772993 + 53 75 42 NA NA NA NA NA GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 NA NA NA NA NA NA AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC natural NA NA NA NA NA 3009 1881 0.974577184278991 0.99584350362245 0.98521034395072 NA NA 0.974577184278991 0.99584350362245 NA NA 0 0 NA 0.98521034395072 NA 0 NA FALSE NA NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001324940 NA NA NA NA NA NA NA 1.9931529274349e-56 FALSE NA ENSE00001324940_002 ENSE00001324940 002 2 28772824 28772993 + 53 75 42 C T 28772848 684 25 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGGTGACATGTTGGAATCATGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28549980 28549981 28549981 upstr_intron -29 -0.528301886792453 AAGGGATACAGACTTCTAGGGTCATGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 320 203 1 1 1 NA NA 0.974577184278991 0.99584350362245 NA NA 0.0254228157210094 0.00415649637755033 NA 0.98521034395072 NA 0.0147896560492798 NA FALSE NA 0 -1.696 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 1 NA ACG C,T 1.647e-05 2:28549981 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 intron_variant -0.067449 0.1234 0.00294 0.06567 0.336618606070582 0.153981 1.9931529274349e-56 FALSE 2.45884e-05 ENSE00001324940_004 ENSE00001324940 004 2 28772824 28772993 + 53 75 42 T C 28772859 686 36 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGGTGACGTGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28549991 28549992 28549992 upstr_intron -18 -0.320754716981132 AAGGGATACAGACTTCTAGGGTCACGATTCCAACACGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 53 644 1 0.996318137008667 0.998159068504334 NA NA 0.974577184278991 0.99584350362245 NA NA 0.0254228157210094 0.000474633386217338 NA 0.98521034395072 NA 0.0129487245536133 NA FALSE NA 0 -0.145 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 rs368594217 1 NA C:0.0002 C:0 ATG T,C 8.236e-06 2:28549992 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 intron_variant -0.143304 0.16454 0.0144 0.06567 0.661146823196746 0.153981 1.9931529274349e-56 FALSE 4.07864e-06 ENSE00001324940_005 ENSE00001324940 005 2 28772824 28772993 + 53 75 42 C T 28772864 687 41 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGATGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28549996 28549997 28549997 upstr_intron -13 -0.226415094339623 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCATCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 339 285 0.997794148192737 1 0.998897074096369 NA NA 0.974577184278991 0.99584350362245 NA NA 0.0232169639137463 0.00415649637755033 NA 0.98521034395072 NA 0.0136867301456483 NA FALSE NA 0 -1.246 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28549997 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 intron_variant 0.423115 0.17753 0.0077 0.07523 0.651403118247773 0.151431 1.9931529274349e-56 FALSE 2.03772e-05 ENSE00001324940_006 ENSE00001324940 006 2 28772824 28772993 + 53 75 42 C G 28772864 688 41 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGCTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28549996 28549997 28549997 upstr_intron -13 -0.226415094339623 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCAGCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 1350 148 0.972604288422906 0.917622153945329 0.945113221184117 NA NA 0.974577184278991 0.99584350362245 NA NA -0.00197289585608484 -0.0782213496771211 NA 0.98521034395072 NA -0.040097122766603 NA FALSE NA 0 -1.246 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001324940 intron_variant 0.232293 0.1954 0.02954 0.07523 0.667107067770872 0.151431 1.9931529274349e-56 FALSE 4.07544e-06 ENSE00001324940_008 ENSE00001324940 008 2 28772824 28772993 + 53 75 42 C T 28772882 690 59 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGACTCTCCTGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28550014 28550015 28550015 exon 6 0.08 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGTCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 50 150 0.996920851139949 1 0.998460425569974 NA NA 0.974577184278991 0.99584350362245 NA NA 0.0223436668609579 0.00415649637755033 NA 0.98521034395072 NA 0.0132500816192541 NA FALSE NA 0.177 -0.705 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 16/58 1 NA GCC C,T 4.942e-05 2:28550015 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 synonymous_variant 1.829663 0.78452 0.01701 0.549168 0.658873846104081 0 1.9931529274349e-56 FALSE 7.31969e-05 ENSE00001324940_009 ENSE00001324940 009 2 28772824 28772993 + 53 75 42 C T 28772883 691 60 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGAGCTCTCCTGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28550015 28550016 28550016 exon 7 0.0933333333333333 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCTCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 414 263 0.995073828358949 1 0.997536914179475 NA NA 0.974577184278991 0.99584350362245 NA NA 0.0204966440799587 0.00415649637755033 NA 0.98521034395072 NA 0.0123265702287545 NA FALSE NA 0.981 3.462 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 16/58 1 deleterious(0.02) possibly_damaging(0.801) NA CCC C,T 1.647e-05 2:28550016 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 missense_variant 6.188201 0.97866 0.84874 0.549168 0.998949085728779 0 1.9931529274349e-56 FALSE 1.62657e-05 ENSE00001324940_011 ENSE00001324940 011 2 28772824 28772993 + 53 75 42 G A 28772891 693 68 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAATAGATAGGGGCTCTCCTGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28550023 28550024 28550024 exon 15 0.2 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTATTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 3283 31 0.99909394562437 0.808089719271172 0.903591832447771 NA NA 0.974577184278991 0.99584350362245 NA NA 0.0245167613453792 -0.187753784351278 NA 0.98521034395072 NA -0.0816185115029495 NA FALSE NA 0.957 -0.275 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 16/58 1 NA TGT G,A 1.647e-05 2:28550024 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 synonymous_variant 0.93075 0.93865 0.35807 0.549168 0.592472136173638 0 1.9931529274349e-56 FALSE 8.13246e-06 ENSE00001324940_012 ENSE00001324940 012 2 28772824 28772993 + 53 75 42 C G 28772897 694 74 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTACCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28550029 28550030 28550030 exon 21 0.28 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGGTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 377 249 0.938827075073714 0.82509552280132 0.881961298937517 NA NA 0.974577184278991 0.99584350362245 NA NA -0.0357501092052771 -0.17074798082113 NA 0.98521034395072 NA -0.103249045013203 NA FALSE NA 1 2.048 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 16/58 rs372131944 1 deleterious(0) benign(0.053) NA G:0 G:0.0001 GCT C,G 8.236e-06 2:28550030 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 missense_variant 3.751638 0.97075 0.82909 0.549168 0.993558843684428 0 1.9931529274349e-56 FALSE 1.2197e-05 ENSE00001324940_013 ENSE00001324940 013 2 28772824 28772993 + 53 75 42 A G 28772899 695 76 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGCAGCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28550031 28550032 28550032 exon 23 0.306666666666667 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTGCAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 672 114 0.958400031030432 0.997215188099832 0.977807609565132 NA NA 0.974577184278991 0.99584350362245 NA NA -0.0161771532485591 0.00137168447738267 NA 0.98521034395072 NA -0.00740273438558819 NA FALSE NA 0.972 2.631 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 16/58 1 deleterious(0.01) probably_damaging(0.947) NA TAC A,G 8.236e-06 2:28550032 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 missense_variant 4.128094 0.97655 0.83393 0.549168 0.987353064925208 0 1.9931529274349e-56 FALSE 4.06534e-06 ENSE00001324940_015 ENSE00001324940 015 2 28772824 28772993 + 53 75 42 T C 28772947 697 124 GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAGGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28550079 28550080 28550080 exon -5 0.946666666666667 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCCTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 440 418 1 0.999634987190352 0.999817493595176 NA NA 0.974577184278991 0.99584350362245 NA NA 0.0254228157210094 0.00379148356790193 NA 0.98521034395072 NA 0.0146071496444556 NA FALSE NA 0 -3.101 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 16/58 COSM3972208&COSM3972210&COSM3972209 1 tolerated(0.27) benign(0.001) NA CTT T,C 8.237e-06 2:28550080 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 missense_variant -1.494797 0.12163 0.00851 0.487112 0.371340594755695 0 1.9931529274349e-56 FALSE NA ENSE00001324940_019 ENSE00001324940 019 2 28772824 28772993 + 53 75 42 T C 28772983 701 160 GTTCATCTGCGTGTTTGTCAATTACAGAAAACCTTTCCTTACCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGGCTCTCCTGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 28550115 28550116 28550116 downstr_intron 32 1.78048780487805 AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACACGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC mutant NA NA NA NA NA 26 49 1 1 1 NA NA 0.974577184278991 0.99584350362245 NA NA 0.0254228157210094 0.00415649637755033 NA 0.98521034395072 NA 0.0147896560492798 NA FALSE NA 0.002 0.001 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 16/57 1 NA ATG T,C 8.241e-06 2:28550116 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001324940 intron_variant -0.060787 0.17302 0.03195 0.06567 0.413059470230658 0.0457005 1.9931529274349e-56 FALSE NA ENSE00001324940_BRK ENSE00001324940 BRK 2 28772824 28772993 + 53 75 42 A,G; T,T NA NA NA GTTCATCTGCATGTTTGTCAATTACAGAAAACCTTTCCTTGGCTCAAGCTTGTCTTGGGGTTTCTGCAGTCTGGTCAGGTAGTTGCTGTTTCTGTAGCTGAACAGATAGGGGCTCTCAAGCAGGGAAAGGTGACATGTTGGAATCGTGACCCTAGAAGTCTGTATCCCTT 28549956 28550126 NA NA NA NA NA NA AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCTTGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGCCAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC AAGGGATACAGACTTCTAGGGTCACGATTCCAACATGTCACCTTTCCCTGCAGGAGAGCCCCTATCTGTTCAGCTACAGAAACAGCAACTACCTGACCAGACTGCAGAAACCCCAAGACAAGCTTGAGGTAAGGAAAGGTTTTCTGTAATTGACAAACATGCAGATGAAC control NA NA NA NA NA 1657 54 0.00623139225215511 0.0121099687342665 0.00917068049321082 NA NA 0.974577184278991 0.99584350362245 NA NA -0.968345792026836 -0.983733534888183 NA 0.98521034395072 NA -0.976039663457509 NA TRUE NA NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001324940 NA NA NA NA NA NA NA 1.9931529274349e-56 FALSE NA ENSE00001325185_000 ENSE00001325185 000 12 56749460 56749629 - 32 96 42 NA NA NA NA NA AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 NA NA NA NA NA NA AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT natural 335 219 0.053846673242838 0 0.026923336621419 3065 981 0.664883904920063 0.836094224919188 0.750489064919626 0.053846673242838 0 0.664883904920063 0.836094224919188 0 0 0 0 0.026923336621419 0.750489064919626 0 0 0 FALSE FALSE NA NA NA NA NA STAT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT2 NA NA NA ENSG00000170581 ENSE00003666203 NA NA NA NA NA NA NA 0.0410947373611941 FALSE NA ENSE00001325185_003 ENSE00001325185 003 12 56749460 56749629 - 32 96 42 A G 56749494 2124 136 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAACTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 56355709 56355710 56355710 exon -3 0.979166666666667 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAACTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT mutant NA NA NA NA NA 431 149 0.795065945717931 0.8 0.797532972858966 0.053846673242838 0 0.664883904920063 0.836094224919188 NA NA 0.130182040797868 -0.0360942249191883 0.026923336621419 0.750489064919626 NA 0.0470439079393398 NA FALSE NA 0 -0.367 rs2066812 upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs2066812 1 G:0.0134 G:0.0484 G:0.0043 NA G:0 G:0 G:0 G:0.0477 G:0.0001 AAT A,G 0.004637 12:56355710 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003666203 splice_region_variant 0.028458 0.14045 0.03489 0.732398 0.634074657221328 0 0.0410947373611941 FALSE 0.00363458 ENSE00001325185_006 ENSE00001325185 006 12 56749460 56749629 - 32 96 42 T G 56749524 2127 106 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAACGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 56355739 56355740 56355740 exon -33 0.666666666666667 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAACGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT mutant NA NA NA NA NA 173 166 0.802790659018963 0.880807885102283 0.841799272060623 0.053846673242838 0 0.664883904920063 0.836094224919188 NA NA 0.1379067540989 0.0447136601830946 0.026923336621419 0.750489064919626 NA 0.0913102071409971 NA FALSE NA 0.998 1.175 rs138244918 upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs138244918 1 NA G:0 G:0.0001 CTT T,G 8.236e-06 12:56355740 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003666203 synonymous_variant 0.517793 0.9773 0.8575 0.732398 0.902664050063626 0 0.0410947373611941 FALSE 4.06078e-06 ENSE00001325185_007 ENSE00001325185 007 12 56749460 56749629 - 32 96 42 G A 56749542 2128 88 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACTTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 56355757 56355758 56355758 exon 46 0.479166666666667 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACTTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT mutant NA NA NA NA NA 108 51 0 0 0 0.053846673242838 0 0.664883904920063 0.836094224919188 NA NA -0.664883904920063 -0.836094224919188 0.026923336621419 0.750489064919626 NA -0.750489064919626 NA TRUE NA 1 3.198 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs199890161 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0001 AGG G,A 4.118e-05 12:56355758 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003666203 missense_variant 2.743879 0.96439 0.87327 0.732398 0.988886901241943 0 0.0410947373611941 FALSE 2.43653e-05 ENSE00001325185_008 ENSE00001325185 008 12 56749460 56749629 - 32 96 42 C T 56749552 2129 78 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATAATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 56355767 56355768 56355768 exon 36 0.375 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATAATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT mutant NA NA NA NA NA 1164 116 0.0102595250139803 0 0.00512976250699014 0.053846673242838 0 0.664883904920063 0.836094224919188 NA NA -0.654624379906083 -0.836094224919188 0.026923336621419 0.750489064919626 NA -0.745359302412636 NA TRUE NA 1 0.396 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs563355373 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 TCA C,T 1.647e-05 12:56355768 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003666203 missense_variant 1.052027 0.96156 0.63846 0.732398 0.760327067679134 0 0.0410947373611941 FALSE 1.21825e-05 ENSE00001325185_010 ENSE00001325185 010 12 56749460 56749629 - 32 96 42 G A 56749572 2131 58 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATTCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 56355787 56355788 56355788 exon 16 0.166666666666667 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATTCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT mutant NA NA NA NA NA 530 171 0.706648500423652 0.8 0.753324250211826 0.053846673242838 0 0.664883904920063 0.836094224919188 NA NA 0.0417645955035889 -0.0360942249191882 0.026923336621419 0.750489064919626 NA 0.00283518529220034 NA FALSE NA 0.904 0.783 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA GGA G,A 8.236e-06 12:56355788 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003666203 missense_variant 1.250424 0.24138 0.46458 0.732398 0.989520480269932 0 0.0410947373611941 FALSE 4.06154e-06 ENSE00001325185_012 ENSE00001325185 012 12 56749460 56749629 - 32 96 42 C G 56749576 2133 54 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCACGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 56355791 56355792 56355792 exon 12 0.125 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCACGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT mutant NA NA NA NA NA 15 13 0 0 0 0.053846673242838 0 0.664883904920063 0.836094224919188 NA NA -0.664883904920063 -0.836094224919188 0.026923336621419 0.750489064919626 NA -0.750489064919626 NA TRUE NA 0.004 0.017 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs367793690 1 NA G:0.0002 G:0 CCT C,G 1.647e-05 12:56355792 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003666203 splice_acceptor_variant 3.71646 0.18489 0.0641 0.732398 0.830385211213544 0 0.0410947373611941 FALSE 1.21849e-05 ENSE00001325185_014 ENSE00001325185 014 12 56749460 56749629 - 32 96 42 A G 56749583 2135 47 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTCTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 56355798 56355799 56355799 exon 5 0.0520833333333333 AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTCTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT mutant NA NA NA NA NA 43 543 0.999038993356031 0.8 0.899519496678016 0.053846673242838 0 0.664883904920063 0.836094224919188 NA NA 0.334155088435968 -0.0360942249191882 0.026923336621419 0.750489064919626 NA 0.14903043175839 NA FALSE NA 0 0.801 rs142832877 upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 rs142832877 1 NA G:0 G:0.0001 AAA A,G 1.647e-05 12:56355799 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003666203 missense_variant 4.547766 0.38089 0.38753 0.732398 0.991007961500395 0 0.0410947373611941 FALSE 1.21857e-05 ENSE00001325185_017 ENSE00001325185 017 12 56749460 56749629 - 32 96 42 C T 56749602 2138 28 AGTGGTTGAATTGGATCAATCCTTTCTATTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT 56355675 56355845 56355817 56355818 56355818 upstr_intron -15 -0.333333333333333 AGTGGTTGAATTGGATCAATCCTTTCTATTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT AGTGGTTGAATTGGATCAATCCTTTCTGTTTACCTATTCTAGCCCTTTTCCCAGGATCCTACCCAGTTGGCTGAGATGATCTTTAACCTCCTTCTGGAAGAAAAAAGAATTTTGATCCAGGCTCAGAGGGCCCAATTGGTGAGGACAATTCAGTGGTAATGTTGGAAACT mutant 74 12 0 0 0 NA NA NA NA NA 0.053846673242838 0 0.664883904920063 0.836094224919188 -0.053846673242838 0 NA NA 0.026923336621419 0.750489064919626 -0.026923336621419 NA NA NA FALSE 0.003 0.037 . upstream_gene_variant MODIFIER STAT2 HGNC 11363 ENST00000555519 1 NA ACA C,T 8.236e-06 12:56355818 STAT2 HGNC Symbol protein_coding 18558 ENSG00000170581 ENSE00003666203 intron_variant 0.316033 0.24075 0.06777 0.093477 0.546477618345311 0.0851308 0.0410947373611941 FALSE 4.06392e-06 ENSE00001325472_000 ENSE00001325472 000 X 147919124 147919293 + 47 87 36 NA NA NA NA NA ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 NA NA NA NA NA NA ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT natural 113 269 0.845134041361739 0.85 0.84756702068087 1810 2035 0.909714834794168 0.948561443459739 0.929138139126954 0.845134041361739 0.85 0.909714834794168 0.948561443459739 0 0 0 0 0.84756702068087 0.929138139126954 0 0 0 FALSE FALSE NA NA NA NA NA AFF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFF2 NA NA NA ENSG00000155966 ENSE00001325472 NA NA NA NA NA NA NA 0.998760604472339 TRUE NA ENSE00001325472_002 ENSE00001325472 002 X 147919124 147919293 + 47 87 36 A T 147919147 1035 24 ATTTTTTAATTGCCCTGAAATAATGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837622 148837623 148837623 upstr_intron -24 -0.48936170212766 ATTTTTTAATTGCCCTGAAATAATGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 418 288 1 0.992529806512958 0.996264903256479 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0902851652058315 0.0439683630532188 0.84756702068087 0.929138139126954 NA 0.0671267641295252 NA FALSE NA 0.998 2.228 . intron_variant MODIFIER AFF2 HGNC 3776 ENST00000370460 4/20 1 NA AAG A,T 2.471e-05 X:148837623 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 intron_variant 1.183856 0.96427 0.39492 0 0.735808288737723 0.385118 0.998760604472339 TRUE 1.18501e-05 ENSE00001325472_003 ENSE00001325472 003 X 147919124 147919293 + 47 87 36 T G 147919150 1036 27 ATTTTTTAATTGCCCTGAAATAAAGTGTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837625 148837626 148837626 upstr_intron -21 -0.425531914893617 ATTTTTTAATTGCCCTGAAATAAAGTGTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 86 460 0.95 0.929709406927722 0.939854703463861 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0402851652058315 -0.0188520365320172 0.84756702068087 0.929138139126954 NA 0.0107165643369072 NA FALSE NA 0.992 1.056 . intron_variant MODIFIER AFF2 HGNC 3776 ENST00000370460 4/20 1 NA TTT T,G 0.0001895 X:148837626 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 intron_variant 1.030902 0.97924 0.17863 0 0.700275537349553 0.364136 0.998760604472339 TRUE 0.000218356 ENSE00001325472_004 ENSE00001325472 004 X 147919124 147919293 + 47 87 36 A G 147919181 1037 58 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCGTTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837656 148837657 148837657 exon 11 0.126436781609195 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCGTTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 438 355 0.998010017584697 0.973053343478318 0.985531680531508 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0882951827905288 0.0244919000185793 0.84756702068087 0.929138139126954 NA 0.056393541404554 NA FALSE NA 1 2.916 . missense_variant MODERATE AFF2 HGNC 3776 ENST00000370460 5/21 1 deleterious(0.03) benign(0.227) NA CAT A,G 0.0001895 X:148837657 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 1.939105 0.97487 0.89702 0 0.992537335961029 0 0.998760604472339 TRUE 0.000249543 ENSE00001325472_005 ENSE00001325472 005 X 147919124 147919293 + 47 87 36 C G 147919184 1038 61 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTGCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837659 148837660 148837660 exon 14 0.160919540229885 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTGCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 906 94 0.934293019094178 0.952758545795852 0.943525782445015 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0245781843000097 0.00419710233611281 0.84756702068087 0.929138139126954 NA 0.0143876433180612 NA FALSE NA 1 2.92 . missense_variant MODERATE AFF2 HGNC 3776 ENST00000370460 5/21 1 deleterious(0) possibly_damaging(0.529) NA TCC C,G 8.237e-06 X:148837660 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 5.187183 0.98001 0.92804 0 0.98865349960748 0 0.998760604472339 TRUE 5.66239e-06 ENSE00001325472_006 ENSE00001325472 006 X 147919124 147919293 + 47 87 36 C T 147919190 1039 67 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCTTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837665 148837666 148837666 exon 20 0.229885057471264 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCTTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 1593 216 0.94742656624297 0.945840062881387 0.946633314562178 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0377117314488012 -0.00272138057835158 0.84756702068087 0.929138139126954 NA 0.0174951754352248 NA FALSE NA 1 5.493 . missense_variant MODERATE AFF2 HGNC 3776 ENST00000370460 5/21 1 tolerated(0.82) benign(0.365) NA CCT C,T 8.237e-06 X:148837666 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 2.615641 0.99016 0.96798 0 0.950767734506021 0 0.998760604472339 TRUE 5.63838e-06 ENSE00001325472_007 ENSE00001325472 007 X 147919124 147919293 + 47 87 36 A G 147919192 1040 69 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTGCTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837667 148837668 148837668 exon 22 0.252873563218391 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTGCTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 336 785 0.902782544310269 0.80050597120211 0.85164425775619 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA -0.00693229048389898 -0.148055472257629 0.84756702068087 0.929138139126954 NA -0.0774938813707639 NA FALSE NA 0.759 -0.089 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:148837668 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 1.839607 0.9461 0.34964 0 0.894275974649362 0 0.998760604472339 TRUE 5.64016e-06 ENSE00001325472_008 ENSE00001325472 008 X 147919124 147919293 + 47 87 36 A T 147919192 1041 69 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTTCTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837667 148837668 148837668 exon 22 0.252873563218391 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTTCTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 369 1822 0.794676430552769 0.808106087403185 0.801391258977977 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA -0.1150384042414 -0.140455356056553 0.84756702068087 0.929138139126954 NA -0.127746880148976 NA FALSE NA 0.759 -0.089 NA NA NA AFF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFF2 NA NA NA ENSG00000155966 ENSE00001325472 missense_variant 0.68536 0.94957 0.48017 0 0.88489420397442 0 0.998760604472339 TRUE 5.64016e-06 ENSE00001325472_009 ENSE00001325472 009 X 147919124 147919293 + 47 87 36 C A 147919205 1042 82 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTACATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837680 148837681 148837681 exon 35 0.402298850574713 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTACATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 787 842 0.923770414153003 0.910194913696839 0.916982663924921 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0140555793588347 -0.0383665297628994 0.84756702068087 0.929138139126954 NA -0.0121554752020324 NA FALSE NA 1 2.233 . missense_variant MODERATE AFF2 HGNC 3776 ENST00000370460 5/21 COSM69568 1 deleterious(0) benign(0.028) NA TCC C,A 0.000939 X:148837681 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 2.513197 0.9779 0.8189 0 0.97712494443239 0 0.998760604472339 TRUE 0.000882876 ENSE00001325472_012 ENSE00001325472 012 X 147919124 147919293 + 47 87 36 G A 147919219 1045 96 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTAGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837694 148837695 148837695 exon -39 0.563218390804598 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTAGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 375 106 0.0217275302232146 0.00478996869453822 0.0132587494588764 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA -0.887987304570954 -0.943771474765201 0.84756702068087 0.929138139126954 NA -0.915879389668077 NA TRUE NA 1 5.108 . missense_variant MODERATE AFF2 HGNC 3776 ENST00000370460 5/21 1 deleterious(0) probably_damaging(0.999) NA TGG G,A 4.118e-05 X:148837695 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 5.939829 0.9904 0.9624 0 0.999282314445377 0 0.998760604472339 TRUE 1.68783e-05 ENSE00001325472_013 ENSE00001325472 013 X 147919124 147919293 + 47 87 36 C G 147919231 1046 108 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGGAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837706 148837707 148837707 exon -27 0.701149425287356 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGGAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 996 803 0.95912062449327 0.966914846441311 0.96301773546729 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0494057896991011 0.0183534029815721 0.84756702068087 0.929138139126954 NA 0.0338795963403366 NA FALSE NA 1 2.169 . missense_variant MODERATE AFF2 HGNC 3776 ENST00000370460 5/21 1 tolerated(0.2) benign(0.026) NA GCA C,G 8.237e-06 X:148837707 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 0.861689 0.98344 0.93009 0 0.971385837587601 0 0.998760604472339 TRUE 5.63641e-06 ENSE00001325472_014 ENSE00001325472 014 X 147919124 147919293 + 47 87 36 C A 147919244 1047 121 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTACATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837719 148837720 148837720 exon -14 0.850574712643678 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTACATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 1852 380 0.923793945575938 0.923904551998523 0.923849248787231 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0140791107817694 -0.0246568914612154 0.84756702068087 0.929138139126954 NA -0.00528889033972302 NA FALSE NA 0.965 2.888 . missense_variant MODERATE AFF2 HGNC 3776 ENST00000370460 5/21 1 deleterious(0) benign(0.053) NA TCC C,A 8.237e-06 X:148837720 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 3.283139 0.98677 0.95705 0 0.994345735457105 0 0.998760604472339 TRUE 1.69738e-05 ENSE00001325472_015 ENSE00001325472 015 X 147919124 147919293 + 47 87 36 C T 147919248 1048 125 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATTCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837723 148837724 148837724 exon -10 0.896551724137931 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATTCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 1215 166 0.950647644785239 0.948123309958561 0.9493854773719 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0409328099910707 -0.000438133501177385 0.84756702068087 0.929138139126954 NA 0.0202473382449467 NA FALSE NA 0.994 1.55 . synonymous_variant LOW AFF2 HGNC 3776 ENST00000370460 5/21 1 NA TCC C,T 8.238e-06 X:148837724 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 synonymous_variant 1.515383 0.97462 0.86968 0 0.761934515692997 0 0.998760604472339 TRUE 5.70672e-06 ENSE00001325472_016 ENSE00001325472 016 X 147919124 147919293 + 47 87 36 G C 147919253 1049 130 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGCACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837728 148837729 148837729 exon -5 0.954022988505747 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGCACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 618 1005 0.96777810120772 0.992006891138343 0.979892496173031 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0580632664135516 0.0434454476786039 0.84756702068087 0.929138139126954 NA 0.0507543570460778 NA FALSE NA 1 0.613 . missense_variant MODERATE AFF2 HGNC 3776 ENST00000370460 5/21 1 tolerated(0.12) benign(0.02) NA GGA G,C 4.943e-05 X:148837729 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 missense_variant 0.825372 0.96604 0.56739 0 0.994112942459032 0 0.998760604472339 TRUE 2.87771e-05 ENSE00001325472_017 ENSE00001325472 017 X 147919124 147919293 + 47 87 36 C T 147919267 1050 144 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTTTTCCTTCCTGCATTTTTGTTTGTCTT 148837599 148837769 148837742 148837743 148837743 downstr_intron 10 1.28571428571429 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTTTTCCTTCCTGCATTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 31 137 0.95 0.933009814874059 0.941504907437029 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA 0.0402851652058315 -0.0155516285856802 0.84756702068087 0.929138139126954 NA 0.0123667683100757 NA FALSE NA 0.001 0.399 . intron_variant MODIFIER AFF2 HGNC 3776 ENST00000370460 5/20 1 NA TCT C,T 8.238e-06 X:148837743 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 intron_variant 0.67041 0.17911 0.03906 0 0.601856855852139 0.19822 0.998760604472339 TRUE NA ENSE00001325472_018 ENSE00001325472 018 X 147919124 147919293 + 47 87 36 T G 147919280 1051 157 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCAGTTTTGTTTGTCTT 148837599 148837769 148837755 148837756 148837756 downstr_intron 23 1.65714285714286 ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCAGTTTTGTTTGTCTT ATTTTTTAATTGCCCTGAAATAAAGTTTCTTTATTTTTCCTCATTAGGAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACACTCTGAGCAGAGCACCTTTTCCATCCCAGGACAGGTCAGTTCTCTTCCTTCCTGCATTTTTGTTTGTCTT mutant NA NA NA NA NA 353 15 0.780138143130675 0.95 0.865069071565338 0.845134041361739 0.85 0.909714834794168 0.948561443459739 NA NA -0.129576691663493 0.00143855654026137 0.84756702068087 0.929138139126954 NA -0.064069067561616 NA FALSE NA 0.005 0.67 rs56151227 intron_variant MODIFIER AFF2 HGNC 3776 ENST00000370460 5/20 1 NA ATT T,G 0.006427 X:148837756 AFF2 HGNC Symbol protein_coding 500044 ENSG00000155966 ENSE00001325472 intron_variant 0.504926 0.29664 0.13464 0 0.832230525786609 0.14516 0.998760604472339 TRUE 0.00669458 ENSE00001326285_000 ENSE00001326285 000 1 51121078 51121247 - 36 87 47 NA NA NA NA NA TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 NA NA NA NA NA NA TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC natural 172 167 0.99894102790595 0.998360688455556 0.998650858180753 5518 8353 0.89121716743729 0.971036791716525 0.931126979576907 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 0 0 0 0 0.998650858180753 0.931126979576907 0 0 0 FALSE FALSE NA NA NA NA NA FAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAF1 NA NA NA ENSG00000185104 ENSE00001326285 NA NA NA NA NA NA NA 0.997397841844743 TRUE NA ENSE00001326285_001 ENSE00001326285 001 1 51121078 51121247 - 36 87 47 T C 51121092 1880 156 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCGGTTTTATATCCTCC 50655405 50655575 50655419 50655420 50655420 downstr_intron 22 1.62857142857143 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCGGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 12 51 1 0.999898957450921 0.999949478725461 308 833 0.997978362905527 0.991940187883425 0.994959275394476 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 0.00105897209405048 0.00153826899536547 0.106761195468237 0.0209033961669004 0.998650858180753 0.931126979576907 0.00129862054470797 0.0638322958175687 0.0625336752728607 FALSE FALSE 0.006 0.252 . intron_variant MODIFIER FAF1 HGNC 3578 ENST00000371778 9/19 rs371256903 1 NA C:0.0002 C:0 CTG T,C 1.647e-05 1:50655420 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 intron_variant 0.252058 0.27509 0.18418 0.295142 0.455810311567102 0.154569 0.997397841844743 TRUE 1.63311e-05 ENSE00001326285_003 ENSE00001326285 003 1 51121078 51121247 - 36 87 47 C T 51121119 1882 129 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACAACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655446 50655447 50655447 exon -6 0.942528735632184 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACAACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant NA NA NA NA NA 906 412 0.993163980292408 0.997551511715378 0.995357746003893 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 NA NA 0.101946812855117 0.0265147199988535 0.998650858180753 0.931126979576907 NA 0.0642307664269854 NA FALSE NA 1 6.434 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 9/20 1 tolerated(0.09) probably_damaging(0.995) NA TCG C,T 2.471e-05 1:50655447 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 missense_variant 6.390933 0.99573 0.98127 0.706298 0.998646531340942 0 0.997397841844743 TRUE 2.03123e-05 ENSE00001326285_004 ENSE00001326285 004 1 51121078 51121247 - 36 87 47 G A 51121120 1883 128 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGATGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655447 50655448 50655448 exon -7 0.931034482758621 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGATGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant NA NA NA NA NA 145 648 1 0.988001028636184 0.994000514318092 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 NA NA 0.10878283256271 0.0169642369196591 0.998650858180753 0.931126979576907 NA 0.0628735347411844 NA FALSE NA 0.998 0.589 . synonymous_variant LOW FAF1 HGNC 3578 ENST00000371778 9/20 COSM3741300 1 NA CGT G,A 5.765e-05 1:50655448 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 synonymous_variant 1.045584 0.94407 0.24302 0.706298 0.570173512933142 0 0.997397841844743 TRUE 6.09345e-05 ENSE00001326285_005 ENSE00001326285 005 1 51121078 51121247 - 36 87 47 T C 51121125 1884 123 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTGCAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655452 50655453 50655453 exon -12 0.873563218390805 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTGCAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 12 28 1 0.998908964958799 0.999454482479399 1916 1373 0.974720158590588 0.981053164120228 0.977886661355408 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 0.00105897209405048 0.000548276503242962 0.0835029911532981 0.0100163724037038 0.998650858180753 0.931126979576907 0.000803624298646721 0.0467596817785009 0.0459560574798542 FALSE FALSE 1 2.896 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 9/20 COSM464722 1 tolerated(0.62) benign(0.024) NA GTA T,C 8.236e-06 1:50655453 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 missense_variant 1.45384 0.9851 0.91601 0.706298 0.95657294346344 0 0.997397841844743 TRUE 4.06154e-06 ENSE00001326285_006 ENSE00001326285 006 1 51121078 51121247 - 36 87 47 G C 51121141 1885 107 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGGTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655468 50655469 50655469 exon -28 0.689655172413793 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGGTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant NA NA NA NA NA 773 220 1 0.999280444819819 0.999640222409909 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 NA NA 0.10878283256271 0.0282436531032942 0.998650858180753 0.931126979576907 NA 0.068513242833002 NA FALSE NA 1 1.672 . synonymous_variant LOW FAF1 HGNC 3578 ENST00000371778 9/20 rs375003896 1 NA C:0.0002 C:0 AGC G,C 1.647e-05 1:50655469 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 synonymous_variant 1.05755 0.97767 0.89223 0.706298 0.72117962336645 0 0.997397841844743 TRUE 1.62455e-05 ENSE00001326285_007 ENSE00001326285 007 1 51121078 51121247 - 36 87 47 A G 51121152 1886 96 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAACTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655479 50655480 50655480 exon -39 0.563218390804598 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAACTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 55 27 1 1 1 576 689 0.997545176735082 0.999334415641721 0.998439796188401 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 0.00105897209405048 0.00163931154444408 0.106328009297792 0.0282976239251962 0.998650858180753 0.931126979576907 0.00134914181924728 0.0673128166114939 0.0659636747922466 FALSE FALSE 0.942 2.215 . synonymous_variant LOW FAF1 HGNC 3578 ENST00000371778 9/20 1 NA AAT A,G 8.236e-06 1:50655480 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 synonymous_variant 1.0423 0.98297 0.78273 0.706298 0.724226867556162 0 0.997397841844743 TRUE 1.62446e-05 ENSE00001326285_008 ENSE00001326285 008 1 51121078 51121247 - 36 87 47 T C 51121153 1887 95 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAGTTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655480 50655481 50655481 exon -40 0.551724137931034 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAGTTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 18 11 0.954727499470802 0.85 0.902363749735401 127 104 0.998368427866305 1 0.999184213933153 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 -0.0442135284351479 -0.148360688455556 0.107151260429015 0.0289632082834753 0.998650858180753 0.931126979576907 -0.0962871084453519 0.0680572343562452 0.164344342801597 FALSE FALSE 0.595 -0.267 . synonymous_variant LOW FAF1 HGNC 3578 ENST00000371778 9/20 1 NA ATT T,C 3.295e-05 1:50655481 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 synonymous_variant 0.241136 0.95902 0.1313 0.706298 0.369730800622252 0 0.997397841844743 TRUE 1.21829e-05 ENSE00001326285_009 ENSE00001326285 009 1 51121078 51121247 - 36 87 47 G T 51121156 1888 92 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCAACAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655483 50655484 50655484 exon -43 0.517241379310345 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCAACAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 43 64 0.997413860648548 0.996618919948909 0.997016390298728 878 240 1 0.999340460075328 0.999670230037664 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 -0.00152716725740165 -0.00174176850664709 0.10878283256271 0.0283036683588034 0.998650858180753 0.931126979576907 -0.00163446788202437 0.0685432504607565 0.0701777183427809 FALSE FALSE 1 2.968 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 9/20 1 tolerated(0.08) benign(0.391) NA GGT G,T 8.236e-06 1:50655484 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 missense_variant 3.612253 0.98251 0.82489 0.706298 0.973685918547293 0 0.997397841844743 TRUE 4.06114e-06 ENSE00001326285_010 ENSE00001326285 010 1 51121078 51121247 - 36 87 47 C T 51121164 1889 84 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCATTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655491 50655492 50655492 exon 37 0.425287356321839 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCATTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 11 38 1 1 1 276 215 0.998650258702498 0.999822795453915 0.999236527078206 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 0.00105897209405048 0.00163931154444408 0.107433091265208 0.0287860037373899 0.998650858180753 0.931126979576907 0.00134914181924728 0.0681095475012988 0.0667604056820515 FALSE FALSE 1 6.434 . missense_variant MODERATE FAF1 HGNC 3578 ENST00000371778 9/20 1 deleterious(0.02) probably_damaging(0.915) NA ACG C,T 8.236e-06 1:50655492 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 missense_variant 7.004004 0.99458 0.97336 0.706298 0.99861344660758 0 0.997397841844743 TRUE 8.12269e-06 ENSE00001326285_012 ENSE00001326285 012 1 51121078 51121247 - 36 87 47 T C 51121198 1891 50 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTGAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655525 50655526 50655526 exon 3 0.0344827586206897 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTGAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant NA NA NA NA NA 801 312 0.994458083429299 0.981133692003312 0.987795887716306 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 NA NA 0.103240915992009 0.0100969002867877 0.998650858180753 0.931126979576907 NA 0.0566689081393982 NA FALSE NA 1 0.985 rs11205753 splice_region_variant&synonymous_variant LOW FAF1 HGNC 3578 ENST00000371778 9/20 rs11205753 1 C:0.0923 C:0.0182 C:0.0706 NA C:0.001 C:0.1113 C:0.2822 C:0.0384 C:0.129 TTA T,C 0.135 1:50655526 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 splice_region_variant 1.551296 0.97393 0.78736 0.706298 0.868160541315664 0 0.997397841844743 TRUE 0.132364 ENSE00001326285_013 ENSE00001326285 013 1 51121078 51121247 - 36 87 47 T C 51121204 1892 44 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCGTAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655531 50655532 50655532 upstr_intron -4 -0.0638297872340425 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCGTAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 16 51 0.997682361817673 1 0.998841180908836 956 1996 0.992845894786862 0.999576613101546 0.996211253944204 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 -0.00125866608827685 0.00163931154444408 0.101628727349572 0.0285398213850211 0.998650858180753 0.931126979576907 0.000190322728083614 0.0650842743672965 0.0648939516392129 FALSE FALSE 0.015 -0.128 . splice_region_variant&intron_variant LOW FAF1 HGNC 3578 ENST00000371778 8/19 1 NA ATG T,C 8.236e-06 1:50655532 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 splice_region_variant 1.004017 0.28046 0.05759 0.106106 0.630147333074134 0.530942 0.997397841844743 TRUE 8.29593e-06 ENSE00001326285_014 ENSE00001326285 014 1 51121078 51121247 - 36 87 47 G A 51121210 1893 38 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTTTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655537 50655538 50655538 upstr_intron -10 -0.191489361702128 TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTTTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 13 17 1 1 1 120 1707 0.918362345264763 0.999459884069851 0.958911114667307 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 0.00105897209405048 0.00163931154444408 0.0271451778274724 0.0284230923533267 0.998650858180753 0.931126979576907 0.00134914181924728 0.0277841350903996 0.0264349932711523 FALSE FALSE 0.017 -0.16 . intron_variant MODIFIER FAF1 HGNC 3578 ENST00000371778 8/19 1 NA AGA G,A 8.237e-06 1:50655538 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 intron_variant 2.019339 0.96825 0.10732 0.088506 0.806257717357389 0.53603 0.997397841844743 TRUE 4.13076e-06 ENSE00001326285_015 ENSE00001326285 015 1 51121078 51121247 - 36 87 47 A G 51121219 1894 29 TCATGTGAAAATTCTATTTTAATTGTCCCGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655546 50655547 50655547 upstr_intron -19 -0.382978723404255 TCATGTGAAAATTCTATTTTAATTGTCCCGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant NA NA NA NA NA 806 406 0.999488290455233 0.999906209230029 0.999697249842631 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 NA NA 0.108271123017943 0.028869417513504 0.998650858180753 0.931126979576907 NA 0.0685702702657234 NA FALSE NA 0.001 0.76 . intron_variant MODIFIER FAF1 HGNC 3578 ENST00000371778 8/19 rs370590053 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CAG A,G 3.295e-05 1:50655547 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 intron_variant 0.188036 0.31609 0.09153 0.088506 0.711384132766709 0.0969417 0.997397841844743 TRUE NA ENSE00001326285_016 ENSE00001326285 016 1 51121078 51121247 - 36 87 47 G A 51121221 1895 27 TCATGTGAAAATTCTATTTTAATTGTTCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655548 50655549 50655549 upstr_intron -21 -0.425531914893617 TCATGTGAAAATTCTATTTTAATTGTTCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant 34 25 0.998615414987568 1 0.999307707493784 280 34 0.999262791285645 0.995319679454877 0.997291235370261 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 -0.00032561291838118 0.00163931154444408 0.108045623848355 0.0242828877383522 0.998650858180753 0.931126979576907 0.000656849313031449 0.0661642557933534 0.065507406480322 FALSE FALSE 0 -1.431 . intron_variant MODIFIER FAF1 HGNC 3578 ENST00000371778 8/19 1 NA GGA G,A 8.236e-06 1:50655549 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 intron_variant 0.486188 0.2114 0.00599 0.088506 0.823747777000471 0.0969417 0.997397841844743 TRUE 1.25288e-05 ENSE00001326285_017 ENSE00001326285 017 1 51121078 51121247 - 36 87 47 T C 51121232 1896 16 TCATGTGAAAATTCTGTTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 50655559 50655560 50655560 upstr_intron -32 -0.659574468085106 TCATGTGAAAATTCTGTTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC mutant NA NA NA NA NA 4289 974 0.998740922583958 0.918522194040939 0.958631558312448 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 NA NA 0.107523755146668 -0.0525145976755859 0.998650858180753 0.931126979576907 NA 0.0275045787355409 NA FALSE NA 0.059 -0.137 . intron_variant MODIFIER FAF1 HGNC 3578 ENST00000371778 8/19 1 NA ATA T,C 8.237e-06 1:50655560 FAF1 HGNC Symbol protein_coding 523235 ENSG00000185104 ENSE00001326285 intron_variant 0.515357 0.21257 0.0309 0.088506 0.572487235624664 0.0957265 0.997397841844743 TRUE 4.25677e-06 ENSE00001326285_BRK ENSE00001326285 BRK 1 51121078 51121247 - 36 87 47 A,G; T,T NA NA NA TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATTTGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCACCAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC 50655405 50655575 NA NA NA NA NA NA TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATTTGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCACCAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC TCATGTGAAAATTCTATTTTAATTGTCCTGTTTCTTTCTTTTCATAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAGTAAGTGACAGTCAAATTTTCAGTTTTATATCCTCC control 15 20 0.0847631344180805 0 0.0423815672090403 NA NA NA NA NA 0.99894102790595 0.998360688455556 0.89121716743729 0.971036791716525 -0.914177893487869 -0.998360688455556 NA NA 0.998650858180753 0.931126979576907 -0.956269290971713 NA NA NA TRUE NA NA NA NA NA FAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAF1 NA NA NA ENSG00000185104 ENSE00001326285 NA NA NA NA NA NA NA 0.997397841844743 TRUE NA ENSE00001327422_000 ENSE00001327422 000 15 93518055 93518224 + 54 72 44 NA NA NA NA NA CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 NA NA NA NA NA NA CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC natural 24 15 0.992092825740944 0.962878279691066 0.977485552716005 2128 1280 0.971775926230561 0.989509882887924 0.980642904559243 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 0 0 0 0 0.977485552716005 0.980642904559243 0 0 0 FALSE FALSE NA NA NA NA NA CHD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHD2 NA NA NA ENSG00000173575 ENSE00003535318 NA NA NA NA NA NA NA 0.999999998845422 TRUE NA ENSE00001327422_003 ENSE00001327422 003 15 93518055 93518224 + 54 72 44 T A 93518080 2586 26 CTGAGTGTAGCTGATCTTCCTATCTAACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974849 92974850 92974850 upstr_intron -29 -0.518518518518518 CTGAGTGTAGCTGATCTTCCTATCTAACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 75 615 1 0.911473403257818 0.955736701628909 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0282240737694387 -0.0780364796301058 0.977485552716005 0.980642904559243 NA -0.0249062029303336 NA FALSE NA 0.023 -0.1 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 1/3 1 NA TTA T,A 8.236e-06 15:92974850 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 1.854803 0.21154 0.1079 0.256867 0.745215706624479 0.156148 0.999999998845422 TRUE 4.06951e-06 ENSE00001327422_005 ENSE00001327422 005 15 93518055 93518224 + 54 72 44 G C 93518084 2588 30 CTGAGTGTAGCTGATCTTCCTATCTTACACTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974853 92974854 92974854 upstr_intron -25 -0.444444444444444 CTGAGTGTAGCTGATCTTCCTATCTTACACTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 671 116 0.999085237660961 1 0.999542618830481 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0273093114303999 0.0104901171120758 0.977485552716005 0.980642904559243 NA 0.0188997142712379 NA FALSE NA 0.264 0.97 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 1/3 1 NA AGT G,C 1.647e-05 15:92974854 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 1.089036 0.27248 0.22544 0.256867 0.56407183237283 0.156148 0.999999998845422 TRUE 2.03422e-05 ENSE00001327422_007 ENSE00001327422 007 15 93518055 93518224 + 54 72 44 G T 93518095 2590 41 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGTTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974864 92974865 92974865 upstr_intron -14 -0.240740740740741 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGTTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 47 359 0.805518059591787 1 0.902759029795893 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA -0.166257866638775 0.0104901171120758 0.977485552716005 0.980642904559243 NA -0.0778838747633494 NA FALSE NA 1 2.126 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 1/3 rs559673443 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GGT G,T 8.236e-06 15:92974865 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 1.562942 0.21809 0.84318 0.256867 0.775142481004279 0.333857 0.999999998845422 TRUE 4.06676e-06 ENSE00001327422_008 ENSE00001327422 008 15 93518055 93518224 + 54 72 44 T C 93518096 2591 42 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGCTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974865 92974866 92974866 upstr_intron -13 -0.222222222222222 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGCTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 374 12 0.931421689032781 1 0.96571084451639 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA -0.0403542371977805 0.0104901171120758 0.977485552716005 0.980642904559243 NA -0.0149320600428524 NA FALSE NA 1 0.293 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 1/3 1 NA GTT T,C 8.236e-06 15:92974866 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 1.958485 0.21386 0.69455 0.256867 0.766945085535793 0.342685 0.999999998845422 TRUE 4.06554e-06 ENSE00001327422_009 ENSE00001327422 009 15 93518055 93518224 + 54 72 44 T G 93518098 2592 44 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTGATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974867 92974868 92974868 upstr_intron -11 -0.185185185185185 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTGATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 199 1011 1 1 1 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0282240737694387 0.0104901171120758 0.977485552716005 0.980642904559243 NA 0.0193570954407573 NA FALSE NA 0.995 3.341 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 1/3 rs376323635 1 NA G:0 G:0.0001 TTA T,G 4.118e-05 15:92974868 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 2.193795 0.24845 0.8286 0.256867 0.789352755946828 0.248729 0.999999998845422 TRUE 5.69138e-05 ENSE00001327422_010 ENSE00001327422 010 15 93518055 93518224 + 54 72 44 C T 93518162 2593 108 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTTAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974931 92974932 92974932 exon -19 0.75 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTTAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 499 232 1 0.995790721233316 0.997895360616658 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0282240737694387 0.00628083834539184 0.977485552716005 0.980642904559243 NA 0.0172524560574153 NA FALSE NA 1 0.87 rs140272000 synonymous_variant LOW CHD2 HGNC 1917 ENST00000557116 2/4 rs140272000 1 NA T:0.0002 T:0 TCA C,T 8.236e-06 15:92974932 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 synonymous_variant 1.325753 0.97926 0.8762 0.67177 0.725584201045583 0 0.999999998845422 TRUE 4.06345e-06 ENSE00001327422_012 ENSE00001327422 012 15 93518055 93518224 + 54 72 44 T A 93518171 2595 117 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGAAGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974940 92974941 92974941 exon -10 0.875 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGAAGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 98 73 0.999579309337937 1 0.999789654668969 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0278033831073757 0.0104901171120758 0.977485552716005 0.980642904559243 NA 0.0191467501097258 NA FALSE NA 0.62 -0.176 . missense_variant MODERATE CHD2 HGNC 1917 ENST00000557116 2/4 1 benign(0.005) NA ATG T,A 2.471e-05 15:92974941 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 missense_variant 1.198212 0.96252 0.60229 0.67177 0.929441455349904 0 0.999999998845422 TRUE 2.03193e-05 ENSE00001327422_013 ENSE00001327422 013 15 93518055 93518224 + 54 72 44 T C 93518187 2596 133 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACCATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974956 92974957 92974957 downstr_intron 7 1.16279069767442 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACCATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 518 729 1 0.999054754641305 0.999527377320653 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0282240737694387 0.00954487175338092 0.977485552716005 0.980642904559243 NA 0.0188844727614098 NA FALSE NA 0 -1.624 rs146944583 splice_region_variant&intron_variant LOW CHD2 HGNC 1917 ENST00000557116 2/3 rs146944583 1 C:0.0012 C:0.0008 C:0.0029 NA C:0 C:0.003 C:0 C:0.0011 C:0.0052 CTA T,C 0.003624 15:92974957 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 splice_region_variant 1.155125 0.12087 0.00752 0.069865 0.820659499494305 0.136006 0.999999998845422 TRUE 0.00358204 ENSE00001327422_014 ENSE00001327422 014 15 93518055 93518224 + 54 72 44 T C 93518189 2597 135 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTACGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974958 92974959 92974959 downstr_intron 9 1.2093023255814 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTACGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 42 100 0.980915747637479 1 0.990457873818739 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.00913982140691727 0.0104901171120758 0.977485552716005 0.980642904559243 NA 0.00981496925949654 NA FALSE NA 0.001 0.559 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 2/3 1 NA ATG T,C 1.647e-05 15:92974959 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 2.108986 0.19104 0.21594 0.069865 0.762850396521985 0.211104 0.999999998845422 TRUE 1.22372e-05 ENSE00001327422_016 ENSE00001327422 016 15 93518055 93518224 + 54 72 44 C A 93518196 2599 142 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGATTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974965 92974966 92974966 downstr_intron 16 1.37209302325581 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGATTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 109 301 0.986585540464711 1 0.993292770232356 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0148096142341502 0.0104901171120758 0.977485552716005 0.980642904559243 NA 0.012649865673113 NA FALSE NA 0.974 0.555 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 2/3 1 NA GCT C,A 8.236e-06 15:92974966 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 2.749459 0.60459 0.70114 0.069865 0.875320342231815 0.949215 0.999999998845422 TRUE 4.08995e-06 ENSE00001327422_019 ENSE00001327422 019 15 93518055 93518224 + 54 72 44 T C 93518204 2602 150 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTACTTGAGCAACTTGGGCTCTGC 92974824 92974994 92974973 92974974 92974974 downstr_intron 24 1.55813953488372 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTACTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 112 236 0.995123126657454 0.84515253084158 0.920137828749517 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0233472004268924 -0.144357352046344 0.977485552716005 0.980642904559243 NA -0.0605050758097256 NA FALSE NA 0 -0.765 NA NA NA CHD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:92974974 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 0.732451 0.17791 0.0883 0.069865 0.627224106697082 0.0489998 0.999999998845422 TRUE 4.11096e-06 ENSE00001327422_020 ENSE00001327422 020 15 93518055 93518224 + 54 72 44 G A 93518207 2603 153 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTAAGCAACTTGGGCTCTGC 92974824 92974994 92974976 92974977 92974977 downstr_intron 27 1.62790697674419 CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTAAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC mutant NA NA NA NA NA 301 145 1 1 1 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA 0.0282240737694387 0.0104901171120758 0.977485552716005 0.980642904559243 NA 0.0193570954407573 NA FALSE NA 0.462 1.207 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557116 2/3 1 NA TGA G,A 8.237e-06 15:92974977 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003535318 intron_variant 0.708155 0.85305 0.55999 0.069865 0.573420096884577 0.894652 0.999999998845422 TRUE 4.10728e-06 ENSE00001327422_BRK ENSE00001327422 BRK 15 93518055 93518224 + 54 72 44 A,G; T,T NA NA NA CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACTTCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGCCATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC 92974824 92974994 NA NA NA NA NA NA CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACTTCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGCCATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC CTGAGTGTAGCTGATCTTCCTATCTTACAGTTTTCTTGTGGTTTATTTTTACAGCGTCTGGATGGTTCCATCAAGGGAGAAATCCGAAAACAGGCACTGGACCACTTCAATGCAGATGGGTCTGAGGTATACTATGCATGGCTTTGTTATTTGAGCAACTTGGGCTCTGC control NA NA NA NA NA 93 353 0 0 0 0.992092825740944 0.962878279691066 0.971775926230561 0.989509882887924 NA NA -0.971775926230561 -0.989509882887924 0.977485552716005 0.980642904559243 NA -0.980642904559243 NA TRUE NA NA NA NA NA NA CHD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHD2 NA NA NA ENSG00000173575 ENSE00003535318 NA NA NA NA NA NA NA 0.999999998845422 TRUE NA ENSE00001329207_000 ENSE00001329207 000 8 139774603 139774772 - 53 54 63 NA NA NA NA NA TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG 138762359 138762529 NA NA NA NA NA NA TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG natural 59 20 0.962854275979463 0.995109300986468 0.978981788482966 997 1123 0.933651043860856 0.988037957905856 0.960844500883356 0.962854275979463 0.995109300986468 0.933651043860856 0.988037957905856 0 0 0 0 0.978981788482966 0.960844500883356 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001329207 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001329207_011 ENSE00001329207 011 8 139774603 139774772 - 53 54 63 C T 139774664 2892 109 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAAGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG 138762359 138762529 138762420 138762421 138762421 exon -9 0.851851851851852 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAAGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG mutant NA NA NA NA NA 25 12 1 0.95 0.975 0.962854275979463 0.995109300986468 0.933651043860856 0.988037957905856 NA NA 0.0663489561391444 -0.0380379579058561 0.978981788482966 0.960844500883356 NA 0.0141554991166442 NA FALSE NA 0.975 3.347 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 17/65 1 unknown(0) NA CCT C,T 8.236e-06 8:138762421 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001329207 missense_variant 2.530418 0.96843 0.85036 0.615465 0.999031842010505 0 8.25832618148535e-32 FALSE 4.06184e-06 ENSE00001329207_012 ENSE00001329207 012 8 139774603 139774772 - 53 54 63 T G 139774665 2893 108 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACCGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG 138762359 138762529 138762421 138762422 138762422 exon -10 0.833333333333333 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACCGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG mutant NA NA NA NA NA 118 130 1 1 1 0.962854275979463 0.995109300986468 0.933651043860856 0.988037957905856 NA NA 0.0663489561391444 0.011962042094144 0.978981788482966 0.960844500883356 NA 0.0391554991166442 NA FALSE NA 0.001 -1.263 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 17/65 1 NA CTG T,G 8.236e-06 8:138762422 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001329207 synonymous_variant -0.323769 0.11712 0.01584 0.615465 0.314746019926003 0 8.25832618148535e-32 FALSE 4.06187e-06 ENSE00001329207_017 ENSE00001329207 017 8 139774603 139774772 - 53 54 63 G A 139774685 2898 88 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCTCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG 138762359 138762529 138762441 138762442 138762442 exon 25 0.462962962962963 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCTCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG mutant NA NA NA NA NA 33 251 1 0.997380072198042 0.998690036099021 0.962854275979463 0.995109300986468 0.933651043860856 0.988037957905856 NA NA 0.0663489561391444 0.00934211429218612 0.978981788482966 0.960844500883356 NA 0.0378455352156652 NA FALSE NA 1 4.236 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 17/65 rs376218155 1 unknown(0) NA A:0.0002 A:0 GGG G,A 1.647e-05 8:138762442 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001329207 missense_variant 1.542198 0.97165 0.87831 0.615465 0.99889391670968 0 8.25832618148535e-32 FALSE 8.12301e-06 ENSE00001329207_018 ENSE00001329207 018 8 139774603 139774772 - 53 54 63 G A 139774686 2899 87 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTTCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG 138762359 138762529 138762442 138762443 138762443 exon 24 0.444444444444444 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTTCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG mutant NA NA NA NA NA 22 40 1 1 1 0.962854275979463 0.995109300986468 0.933651043860856 0.988037957905856 NA NA 0.0663489561391444 0.011962042094144 0.978981788482966 0.960844500883356 NA 0.0391554991166442 NA FALSE NA 0.999 0.137 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 17/65 rs551548894 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGA G,A 8.236e-06 8:138762443 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001329207 synonymous_variant -0.035671 0.95385 0.58551 0.615465 0.566743475607105 0 8.25832618148535e-32 FALSE 1.62459e-05 ENSE00001329207_019 ENSE00001329207 019 8 139774603 139774772 - 53 54 63 C T 139774702 2900 71 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCAAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG 138762359 138762529 138762458 138762459 138762459 exon 8 0.148148148148148 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCAAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG mutant NA NA NA NA NA 742 278 0.999444048284411 1 0.999722024142205 0.962854275979463 0.995109300986468 0.933651043860856 0.988037957905856 NA NA 0.065793004423555 0.011962042094144 0.978981788482966 0.960844500883356 NA 0.0388775232588495 NA FALSE NA 1 0.412 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 17/65 1 unknown(0) NA TCG C,T 8.236e-06 8:138762459 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001329207 missense_variant 4.185991 0.97509 0.74413 0.615465 0.993112950496225 0 8.25832618148535e-32 FALSE 2.0308e-05 ENSE00001329207_020 ENSE00001329207 020 8 139774603 139774772 - 53 54 63 T G 139774711 2901 62 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCCGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG 138762359 138762529 138762467 138762468 138762468 upstr_intron -2 -0.0158730158730159 TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCCGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG mutant NA NA NA NA NA 94 44 0 0 0 0.962854275979463 0.995109300986468 0.933651043860856 0.988037957905856 NA NA -0.933651043860856 -0.988037957905856 0.978981788482966 0.960844500883356 NA -0.960844500883356 NA TRUE NA 1 3.432 . splice_acceptor_variant HIGH COL22A1 HGNC 22989 ENST00000303045 16/64 1 NA HC CTG T,G 2.471e-05 8:138762468 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001329207 splice_acceptor_variant 4.874721 0.98496 0.91478 0.074636 0.989331560419441 0.965198 8.25832618148535e-32 FALSE 2.0309e-05 ENSE00001329207_BRK ENSE00001329207 BRK 8 139774603 139774772 - 53 54 63 A,G; T,T NA NA NA TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCTTGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGCCAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG 138762359 138762529 NA NA NA NA NA NA TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCTTGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGCCAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG TGTGCTGGGCTGCTGCCTGTGGTCACTAACCTCTTTATTTCACCATTTGCCTTCTTTTGCCAGGGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAGGTAGGTGGGTGCTGGCGCTGTTGGGCTAGGTTTCATCAGCGGTCAGAGGATGG control NA NA NA NA NA 356 146 0.0103229328643411 0 0.00516146643217055 0.962854275979463 0.995109300986468 0.933651043860856 0.988037957905856 NA NA -0.923328110996515 -0.988037957905856 0.978981788482966 0.960844500883356 NA -0.955683034451185 NA TRUE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001329207 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001329477_000 ENSE00001329477 000 22 29438430 29438599 + 53 75 42 NA NA NA NA NA TCTCAGGGAGGCTGCAGTGTTGGCATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 NA NA NA NA NA NA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA natural 59 42 0.995245481955697 0.985232958079567 0.990239220017632 1542 1958 0.972578754481713 0.968223307213919 0.970401030847816 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 0 0 0 0 0.990239220017632 0.970401030847816 0 0 0 FALSE FALSE NA NA NA NA NA ZNRF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNRF3 NA NA NA ENSG00000183579 ENSE00001329477 NA NA NA NA NA NA NA 0.995712185612616 TRUE NA ENSE00001329477_002 ENSE00001329477 002 22 29438430 29438599 + 53 75 42 C T 29438455 389 26 TCTCAGGGAGGCTGCAGTGTTGGCATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTAGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042466 29042467 29042467 upstr_intron -28 -0.509433962264151 TGAAAAGGTAAGAGGACCAGAGGGCTAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 76 839 1 0.997920795003612 0.998960397501806 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA 0.027421245518287 0.0296974877896935 0.990239220017632 0.970401030847816 NA 0.0285593666539902 NA FALSE NA 0 0.247 . intron_variant MODIFIER ZNRF3 HGNC 18126 ENST00000406323 1/7 1 NA CCA C,T 8.275e-06 22:29042467 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 intron_variant 1.009137 0.26396 0.01917 0.088506 0.699909299584819 0.145501 0.995712185612616 TRUE 4.10206e-06 ENSE00001329477_003 ENSE00001329477 003 22 29438430 29438599 + 53 75 42 G C 29438461 390 32 TCTCAGGGAGGCTGCAGTGTTGGCATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGGAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042472 29042473 29042473 upstr_intron -22 -0.39622641509434 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTCCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 1342 380 0.961834223048026 0.978161102736418 0.969997662892222 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA -0.0107445314336871 0.00993779552249885 0.990239220017632 0.970401030847816 NA -0.000403367955594147 NA FALSE NA 0.329 1.631 . intron_variant MODIFIER ZNRF3 HGNC 18126 ENST00000406323 1/7 rs369592516 1 C:0.0012 C:0.0038 C:0.0014 NA C:0 C:0 C:0 C:0.0008 C:0 TGC G,C 9.93e-05 22:29042473 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 intron_variant 1.396375 0.29683 0.19299 0.088506 0.727819981959865 0.155763 0.995712185612616 TRUE 0.000118708 ENSE00001329477_004 ENSE00001329477 004 22 29438430 29438599 + 53 75 42 G T 29438479 391 50 TCTCAGGGAGGCTGCAGTGTTGGCATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGACAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042490 29042491 29042491 upstr_intron -4 -0.0566037735849057 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGTCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 591 273 0.999301576556142 0.990705345664532 0.995003461110337 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA 0.0267228220744286 0.0224820384506127 0.990239220017632 0.970401030847816 NA 0.0246024302625206 NA FALSE NA 0.501 0.336 . splice_region_variant&intron_variant LOW ZNRF3 HGNC 18126 ENST00000406323 1/7 1 NA GGC G,T 8.276e-06 22:29042491 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 splice_region_variant 1.103298 0.81114 0.10129 0.106106 0.698973191160445 0.163409 0.995712185612616 TRUE 4.0868e-06 ENSE00001329477_009 ENSE00001329477 009 22 29438430 29438599 + 53 75 42 G A 29438530 396 101 TCTCAGGGAGGCTGCAGTGTTGGCATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGATACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042541 29042542 29042542 exon -28 0.64 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTATCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 313 458 0.991834237871192 1 0.995917118935596 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA 0.0192554833894786 0.0317766927860812 0.990239220017632 0.970401030847816 NA 0.0255160880877799 NA FALSE NA 0.269 -0.475 . synonymous_variant LOW ZNRF3 HGNC 18126 ENST00000406323 2/8 1 NA TGT G,A 2.481e-05 22:29042542 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 synonymous_variant 1.391048 0.95153 0.24485 0.732398 0.690066701854527 0 0.995712185612616 TRUE 1.63058e-05 ENSE00001329477_010 ENSE00001329477 010 22 29438430 29438599 + 53 75 42 T A 29438531 397 102 TCTCAGGGAGGCTGCAGTGTTGGCATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGTCACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042542 29042543 29042543 exon -27 0.653333333333333 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGACTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 35 78 0.995592340991861 1 0.99779617049593 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA 0.0230135865101476 0.0317766927860812 0.990239220017632 0.970401030847816 NA 0.0273951396481144 NA FALSE NA 1 5.462 . missense_variant MODERATE ZNRF3 HGNC 18126 ENST00000406323 2/8 1 tolerated(0.57) possibly_damaging(0.684) NA GTC T,A 8.27e-06 22:29042543 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 missense_variant 4.161621 0.98676 0.93553 0.732398 0.971333148018745 0 0.995712185612616 TRUE 4.07588e-06 ENSE00001329477_012 ENSE00001329477 012 22 29438430 29438599 + 53 75 42 A G 29438560 399 131 TCTCAGGGAGGCTGCAGTGTTGGCATGGCCTGAGGAGCTCACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042571 29042572 29042572 downstr_intron 3 1.07317073170732 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTGAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 271 130 0.998625208529959 0.9851138723263 0.991869540428129 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA 0.0260464540482458 0.0168905651123807 0.990239220017632 0.970401030847816 NA 0.0214685095803133 NA FALSE NA 0.999 2.003 . splice_region_variant&intron_variant LOW ZNRF3 HGNC 18126 ENST00000406323 2/7 1 NA TAA A,G 8.267e-06 22:29042572 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 splice_region_variant 1.742794 0.99288 0.83897 0.106106 0.963798194113504 0.966922 0.995712185612616 TRUE 4.08771e-06 ENSE00001329477_014 ENSE00001329477 014 22 29438430 29438599 + 53 75 42 A G 29438574 401 145 TCTCAGGGAGGCTGCAGTGTTGGCACGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042585 29042586 29042586 downstr_intron 17 1.41463414634146 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCGTGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 143 507 1 0.998866049930212 0.999433024965106 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA 0.027421245518287 0.0306427427162936 0.990239220017632 0.970401030847816 NA 0.0290319941172903 NA FALSE NA 0 -0.983 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:29042586 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 intron_variant 0.191973 0.15792 0.05195 0.106106 0.555064273469649 0.0455939 0.995712185612616 TRUE 8.21862e-06 ENSE00001329477_015 ENSE00001329477 015 22 29438430 29438599 + 53 75 42 A T 29438574 402 145 TCTCAGGGAGGCTGCAGTGTTGGCAAGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042585 29042586 29042586 downstr_intron 17 1.41463414634146 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCTTGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 567 495 1 0.988895222547194 0.994447611273597 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA 0.027421245518287 0.0206719153332755 0.990239220017632 0.970401030847816 NA 0.0240465804257812 NA FALSE NA 0 -0.983 NA NA NA ZNRF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNRF3 NA NA NA ENSG00000183579 ENSE00001329477 intron_variant 0.126623 0.15537 0.05607 0.106106 0.64905944174238 0.0455939 0.995712185612616 TRUE 4.10931e-06 ENSE00001329477_016 ENSE00001329477 016 22 29438430 29438599 + 53 75 42 G A 29438576 403 147 TCTCAGGGAGGCTGCAGTGTTGGTATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042587 29042588 29042588 downstr_intron 19 1.46341463414634 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATACCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 574 198 0.996444482893962 0.999200409664826 0.997822446279394 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA 0.0238657284122489 0.0309771024509075 0.990239220017632 0.970401030847816 NA 0.0274214154315782 NA FALSE NA 0 -0.44 . intron_variant MODIFIER ZNRF3 HGNC 18126 ENST00000406323 2/7 1 NA TGC G,A 8.265e-06 22:29042588 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 intron_variant 0.428738 0.18177 0.02379 0.106106 0.538050604240935 0.0455939 0.995712185612616 TRUE NA ENSE00001329477_017 ENSE00001329477 017 22 29438430 29438599 + 53 75 42 C G 29438578 404 149 TCTCAGGGAGGCTGCAGTGTTCGCATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042589 29042590 29042590 downstr_intron 21 1.51219512195122 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCGAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 896 107 0.883101580610918 1 0.941550790305459 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA -0.0894771738707953 0.0317766927860812 0.990239220017632 0.970401030847816 NA -0.0288502405423571 NA FALSE NA 0 -0.434 . intron_variant MODIFIER ZNRF3 HGNC 18126 ENST00000406323 2/7 rs557467584 1 G:0.0010 G:0 G:0 NA G:0 G:0 G:0.0051 CCA C,G 0.0007934 22:29042590 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 intron_variant 0.24111 0.28093 0.10794 0.106106 0.698952448124379 0.0455939 0.995712185612616 TRUE 0.00075981 ENSE00001329477_018 ENSE00001329477 018 22 29438430 29438599 + 53 75 42 C T 29438586 405 157 TCTCAGGGAGGCTACAGTGTTGGCATGGCCTGAGGAGCTTACCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCCTGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 29042597 29042598 29042598 downstr_intron 29 1.70731707317073 TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGTAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA mutant NA NA NA NA NA 166 330 0.960870744927437 0.990001236180381 0.975435990553909 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 NA NA -0.011708009554276 0.0217779289664626 0.990239220017632 0.970401030847816 NA 0.0050349597060933 NA FALSE NA 0 0.4 . intron_variant MODIFIER ZNRF3 HGNC 18126 ENST00000406323 2/7 1 NA GCA C,T 8.264e-06 22:29042598 ZNRF3 HGNC Symbol protein_coding 173895 ENSG00000183579 ENSE00001329477 intron_variant 0.243961 0.24667 0.09777 0.106106 0.594499648244142 0.0448725 0.995712185612616 TRUE NA ENSE00001329477_BRK ENSE00001329477 BRK 22 29438430 29438599 + 53 75 42 A,G; T,T NA NA NA TCTCAGGGAGGCTGCAGTGTTGGCATGGCCTGAGGAGCTTGGCTGATCAATAGCTTCTGGGTTTTCAGACACATCAAAGATGACTGCAGTAGCTCCCCGCTGTACTGCTCGCTTGGCAAGCCAGAGTTAAAAAAACAGCAGGTTGGCCCTCTGGTCCTCTTACCTTTTCA 29042441 29042611 NA NA NA NA NA NA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCTTGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGCCAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA TGAAAAGGTAAGAGGACCAGAGGGCCAACCTGCTGTTTTTTTAACTCTGGCAGGCCAAGCGAGCAGTACAGCGGGGAGCTACTGCAGTCATCTTTGATGTGTCTGAAAACCCAGAAGCTATTGATCAGGTAAGCTCCTCAGGCCATGCCAACACTGCAGCCTCCCTGAGA control 128 20 0 0 0 461 251 0 0.00255964432864082 0.00127982216432041 0.995245481955697 0.985232958079567 0.972578754481713 0.968223307213919 -0.995245481955697 -0.985232958079567 -0.972578754481713 -0.965663662885278 0.990239220017632 0.970401030847816 -0.990239220017632 -0.969121208683495 0.0211180113341363 TRUE TRUE NA NA NA NA NA ZNRF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNRF3 NA NA NA ENSG00000183579 ENSE00001329477 NA NA NA NA NA NA NA 0.995712185612616 TRUE NA ENSE00001329495_000 ENSE00001329495 000 11 119999076 119999245 - 32 96 42 NA NA NA NA NA GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGCGGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGACAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 NA NA NA NA NA NA CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC natural 47 93 0.982854937298749 0.993799383150156 0.988327160224453 1439 1832 0.995255880884312 0.989146080862166 0.992200980873239 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 0 0 0 0 0.988327160224453 0.992200980873239 0 0 0 FALSE FALSE NA NA NA NA NA TRIM29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM29 NA NA NA ENSG00000137699 ENSE00003649128 NA NA NA NA NA NA NA 9.16729542241399e-05 FALSE NA ENSE00001329495_005 ENSE00001329495 005 11 119999076 119999245 - 32 96 42 C T 119999103 2845 143 GGAGCAGCAAGGTGAGCTTGGGGGCTGTTCACCTTGATGCGGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGACAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128394 120128395 120128395 downstr_intron 5 1.16129032258065 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAACAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 359 81 1 1 1 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA 0.00474411911568828 0.0108539191378335 0.988327160224453 0.992200980873239 NA 0.0077990191267609 NA FALSE NA 0.035 0.62 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TRIM29 HGNC 17274 ENST00000532195 1/1 1 NA GCT C,T 8.236e-06 11:120128395 TRIM29 HGNC Symbol protein_coding 74254 ENSG00000137699 ENSE00003649128 splice_region_variant 2.446314 0.85907 0.07576 0.06567 0.918712416340941 0.878157 9.16729542241399e-05 FALSE NA ENSE00001329495_007 ENSE00001329495 007 11 119999076 119999245 - 32 96 42 C T 119999115 2847 131 GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGTGGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGACAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128406 120128407 120128407 exon -8 0.927083333333333 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCACATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 253 151 0.997866004864313 0.997899455619453 0.997882730241883 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA 0.00261012398000138 0.00875337475728644 0.988327160224453 0.992200980873239 NA 0.00568174936864391 NA FALSE NA 1 5.52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:120128407 TRIM29 HGNC Symbol protein_coding 74254 ENSG00000137699 ENSE00003649128 missense_variant 6.616189 0.95004 0.83296 0.487112 0.999426943770654 0 9.16729542241399e-05 FALSE 1.64332e-05 ENSE00001329495_008 ENSE00001329495 008 11 119999076 119999245 - 32 96 42 C G 119999115 2848 131 GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGGGGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGACAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128406 120128407 120128407 exon -8 0.927083333333333 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCCCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 403 406 0.990745328592542 1 0.995372664296271 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA -0.00451055229176955 0.0108539191378335 0.988327160224453 0.992200980873239 NA 0.00317168342303198 NA FALSE NA 1 5.52 NA NA NA TRIM29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM29 NA NA NA ENSG00000137699 ENSE00003649128 missense_variant 6.384776 0.95184 0.85838 0.487112 0.997483869417387 0 9.16729542241399e-05 FALSE 4.10829e-06 ENSE00001329495_009 ENSE00001329495 009 11 119999076 119999245 - 32 96 42 G A 119999116 2849 130 GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGCAGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGACAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128407 120128408 120128408 exon -9 0.916666666666667 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACTGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 103 560 1 0.81392032429224 0.90696016214612 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA 0.00474411911568828 -0.175225756569926 0.988327160224453 0.992200980873239 NA -0.0852408187271189 NA FALSE NA 1 3.124 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM29 HGNC 17274 ENST00000532195 1/2 1 NA CGG G,A 3.295e-05 11:120128408 TRIM29 HGNC Symbol protein_coding 74254 ENSG00000137699 ENSE00003649128 missense_variant 7.377866 0.91328 0.64528 0.487112 0.999349642064817 0 9.16729542241399e-05 FALSE 3.69361e-05 ENSE00001329495_010 ENSE00001329495 010 11 119999076 119999245 - 32 96 42 C G 119999119 2850 127 GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGCGGTGCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGACAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128410 120128411 120128411 exon -12 0.885416666666667 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGCACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 65 109 1 1 1 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA 0.00474411911568828 0.0108539191378335 0.988327160224453 0.992200980873239 NA 0.0077990191267609 NA FALSE NA 1 3.836 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM29 HGNC 17274 ENST00000532195 1/2 1 NA TCC C,G 8.236e-06 11:120128411 TRIM29 HGNC Symbol protein_coding 74254 ENSG00000137699 ENSE00003649128 missense_variant 6.119152 0.92542 0.57605 0.487112 0.99577351465239 0 9.16729542241399e-05 FALSE 4.10051e-06 ENSE00001329495_011 ENSE00001329495 011 11 119999076 119999245 - 32 96 42 C A 119999149 2851 97 GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGCGGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATACTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGACAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128440 120128441 120128441 exon -42 0.572916666666667 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGTATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 20 566 1 1 1 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA 0.00474411911568828 0.0108539191378335 0.988327160224453 0.992200980873239 NA 0.0077990191267609 NA FALSE NA 0.999 5.52 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM29 HGNC 17274 ENST00000532195 1/2 1 NA TCC C,A 8.236e-05 11:120128441 TRIM29 HGNC Symbol protein_coding 74254 ENSG00000137699 ENSE00003649128 missense_variant 6.877156 0.95145 0.85354 0.516011 0.995101080329657 0 9.16729542241399e-05 FALSE 7.36823e-05 ENSE00001329495_014 ENSE00001329495 014 11 119999076 119999245 - 32 96 42 C T 119999174 2854 72 GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGCGGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGTAGCTGCTCCTTTTGCAATGACAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128465 120128466 120128466 exon 30 0.3125 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTACAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 131 848 1 1 1 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA 0.00474411911568828 0.0108539191378335 0.988327160224453 0.992200980873239 NA 0.0077990191267609 NA FALSE NA 1 1.174 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM29 HGNC 17274 ENST00000532195 1/2 rs537115486 1 T:0.0022 T:0 T:0 NA T:0 T:0 T:0.0112 GCA C,T 0.0008813 11:120128466 TRIM29 HGNC Symbol protein_coding 74254 ENSG00000137699 ENSE00003649128 synonymous_variant 1.395344 0.90305 0.47946 0.516011 0.859639368930267 0 9.16729542241399e-05 FALSE 0.000816832 ENSE00001329495_016 ENSE00001329495 016 11 119999076 119999245 - 32 96 42 C T 119999195 2856 51 GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGCGGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGATAGCTCCGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128486 120128487 120128487 exon 9 0.09375 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTATCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 32 78 1 1 1 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA 0.00474411911568828 0.0108539191378335 0.988327160224453 0.992200980873239 NA 0.0077990191267609 NA FALSE NA 0.979 -0.008 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM29 HGNC 17274 ENST00000532195 1/2 1 NA ACA C,T 8.237e-06 11:120128487 TRIM29 HGNC Symbol protein_coding 74254 ENSG00000137699 ENSE00003649128 synonymous_variant 1.521286 0.89296 0.58778 0.516011 0.804745459710102 0 9.16729542241399e-05 FALSE 4.13654e-05 ENSE00001329495_018 ENSE00001329495 018 11 119999076 119999245 - 32 96 42 C G 119999201 2858 45 GGAGCAGCAAGGTGAGCTTGGGGGCTGCTCACCTTGATGCGGTCCTTCTCCTTCTGCCACTTCTCAGCTTCATCCTCAATCTCAATGATCTTGAGCTGCAGCTGCTCCTTTTGCAATGACAGCTCGGTCTGCAGAGAAAGAGCCAGGATTGGAGAAGTCAGGGGGAGGAG 120128367 120128537 120128492 120128493 120128493 exon 3 0.03125 CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACCGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC CTCCTCCCCCTGACTTCTCCAATCCTGGCTCTTTCTCTGCAGACGGAGCTGTCATTGCAAAAGGAGCAGCTGCAGCTCAAGATCATTGAGATTGAGGATGAAGCTGAGAAGTGGCAGAAGGAGAAGGACCGCATCAAGGTGAGCAGCCCCCAAGCTCACCTTGCTGCTCC mutant NA NA NA NA NA 319 335 0.990883684390493 0.999527610680196 0.995205647535345 0.982854937298749 0.993799383150156 0.995255880884312 0.989146080862166 NA NA -0.00437219649381893 0.0103815298180299 0.988327160224453 0.992200980873239 NA 0.00300466666210547 NA FALSE NA 0 -3.759 NA NA NA TRIM29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:120128493 TRIM29 HGNC Symbol protein_coding 74254 ENSG00000137699 ENSE00003649128 splice_region_variant 0.164974 0.09652 0.01501 0.516011 0.636191084106927 0 9.16729542241399e-05 FALSE 1.24631e-05 ENSE00001329944_000 ENSE00001329944 000 17 76392338 76392507 + 51 78 41 NA NA NA NA NA GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 NA NA NA NA NA NA GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT natural 15 50 0.991275461888597 0.9449248500538 0.968100155971199 1520 1903 0.933729264349152 0.962149242791502 0.947939253570327 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 0 0 0 0 0.968100155971199 0.947939253570327 0 0 0 FALSE FALSE NA NA NA NA NA PGS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGS1 NA NA NA ENSG00000087157 ENSE00003695812 NA NA NA NA NA NA NA 0.000957081939012816 FALSE NA ENSE00001329944_001 ENSE00001329944 001 17 76392338 76392507 + 51 78 41 G T 76392353 3220 16 GTGAACCATGAAAATTATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396271 78396272 78396272 upstr_intron -36 -0.686274509803922 GTGAACCATGAAAATTATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 24 1360 1 0.994730560650914 0.997365280325457 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0662707356508481 0.0325813178594122 0.968100155971199 0.947939253570327 NA 0.0494260267551301 NA FALSE NA 0 -0.032 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 rs372238845 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0011 T:0 TGA G,T 6.621e-05 17:78396272 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 intron_variant 0.619517 0.17083 0.04056 0.156188 0.834109777547257 0.111799 0.000957081939012816 FALSE 7.35444e-05 ENSE00001329944_002 ENSE00001329944 002 17 76392338 76392507 + 51 78 41 A G 76392354 3221 17 GTGAACCATGAAAATGGTGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396272 78396273 78396273 upstr_intron -35 -0.666666666666667 GTGAACCATGAAAATGGTGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 830 175 0.990719076339716 0.991284196882327 0.991001636611022 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0569898119905645 0.0291349540908252 0.968100155971199 0.947939253570327 NA 0.0430623830406949 NA FALSE NA 0 -0.015 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA GAT A,G 8.277e-06 17:78396273 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 intron_variant 0.499141 0.1416 0.07393 0.156188 0.695434159297923 0.164614 0.000957081939012816 FALSE NA ENSE00001329944_003 ENSE00001329944 003 17 76392338 76392507 + 51 78 41 T C 76392359 3222 22 GTGAACCATGAAAATGATGAACTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396277 78396278 78396278 upstr_intron -30 -0.568627450980392 GTGAACCATGAAAATGATGAACTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 294 447 1 0.995356167567926 0.997678083783963 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0662707356508481 0.0332069247764237 0.968100155971199 0.947939253570327 NA 0.0497388302136359 NA FALSE NA 0 -0.073 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA ATT T,C 4.138e-05 17:78396278 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 intron_variant 0.130606 0.18912 0.07075 0.156188 0.631815142048599 0.111799 0.000957081939012816 FALSE 3.26012e-05 ENSE00001329944_005 ENSE00001329944 005 17 76392338 76392507 + 51 78 41 T G 76392383 3224 46 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCGCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396301 78396302 78396302 upstr_intron -6 -0.0980392156862745 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCGCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant 33 112 0.85 0.85 0.85 NA NA NA NA NA 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 -0.141275461888598 -0.0949248500538002 NA NA 0.968100155971199 0.947939253570327 -0.118100155971199 NA NA NA FALSE 0.001 1.066 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA CTC T,G 8.276e-06 17:78396302 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 splice_region_variant 0.908119 0.26609 0.28295 0.156188 0.777312490124461 0.206874 0.000957081939012816 FALSE 4.06293e-06 ENSE00001329944_006 ENSE00001329944 006 17 76392338 76392507 + 51 78 41 C T 76392384 3225 47 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTTTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396302 78396303 78396303 upstr_intron -5 -0.0784313725490196 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTTTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 248 61 0.986118427155973 1 0.993059213577986 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0523891628068207 0.0378507572084981 0.968100155971199 0.947939253570327 NA 0.0451199600076594 NA FALSE NA 0 0.167 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA TCT C,T 8.276e-06 17:78396303 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 splice_region_variant 1.02784 0.14819 0.02983 0.156188 0.680791219205884 0.201501 0.000957081939012816 FALSE 4.06303e-06 ENSE00001329944_007 ENSE00001329944 007 17 76392338 76392507 + 51 78 41 G T 76392389 3226 52 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGTGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396307 78396308 78396308 exon 1 0.0128205128205128 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGTGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant 16 40 0.85 0.85 0.85 NA NA NA NA NA 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 -0.141275461888598 -0.0949248500538002 NA NA 0.968100155971199 0.947939253570327 -0.118100155971199 NA NA NA FALSE 1 4.903 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA GGG G,T 8.275e-06 17:78396308 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 missense_variant 6.447293 0.98484 0.97548 0.732398 0.995840173366122 0 0.000957081939012816 FALSE 4.06276e-06 ENSE00001329944_008 ENSE00001329944 008 17 76392338 76392507 + 51 78 41 A G 76392395 3227 58 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGGTAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396313 78396314 78396314 exon 7 0.0897435897435897 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGGTAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 293 20 0.881777933164817 0.824640188481827 0.853209060823322 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA -0.0519513311843346 -0.137509054309675 0.968100155971199 0.947939253570327 NA -0.094730192747005 NA FALSE NA 1 8.451 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA GAT A,G 3.31e-05 17:78396314 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 missense_variant 1.722132 0.98789 0.99101 0.732398 0.994968763583542 0 0.000957081939012816 FALSE 4.46904e-05 ENSE00001329944_009 ENSE00001329944 009 17 76392338 76392507 + 51 78 41 A G 76392403 3228 66 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTGGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396321 78396322 78396322 exon 15 0.192307692307692 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTGGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 184 614 0.995809311552852 0.991403319089443 0.993606315321147 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0620800472037001 0.0292540762979409 0.968100155971199 0.947939253570327 NA 0.0456670617508205 NA FALSE NA 0 -0.789 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA TAG A,G 8.275e-06 17:78396322 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 synonymous_variant 0.387312 0.89198 0.10963 0.732398 0.621179316757561 0 0.000957081939012816 FALSE 4.06448e-06 ENSE00001329944_010 ENSE00001329944 010 17 76392338 76392507 + 51 78 41 G C 76392411 3229 74 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGACGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396329 78396330 78396330 exon 23 0.294871794871795 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGACGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 582 499 1 0.817348790442442 0.908674395221221 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0662707356508481 -0.14480045234906 0.968100155971199 0.947939253570327 NA -0.039264858349106 NA FALSE NA 1 2.699 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:78396330 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 missense_variant 1.978452 0.97007 0.94397 0.732398 0.96481347255701 0 0.000957081939012816 FALSE 4.06293e-06 ENSE00001329944_011 ENSE00001329944 011 17 76392338 76392507 + 51 78 41 G A 76392411 3230 74 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAAGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396329 78396330 78396330 exon 23 0.294871794871795 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAAGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 24 176 1 1 1 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0662707356508481 0.0378507572084981 0.968100155971199 0.947939253570327 NA 0.0520607464296731 NA FALSE NA 1 2.699 NA NA NA PGS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGS1 NA NA NA ENSG00000087157 ENSE00003695812 missense_variant 0.608733 0.96621 0.85489 0.732398 0.759480190633084 0 0.000957081939012816 FALSE 8.12585e-06 ENSE00001329944_013 ENSE00001329944 013 17 76392338 76392507 + 51 78 41 G A 76392414 3232 77 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCAGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396332 78396333 78396333 exon 26 0.333333333333333 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCAGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 32 1167 0.955582665602451 1 0.977791332801225 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0218534012532987 0.0378507572084981 0.968100155971199 0.947939253570327 NA 0.0298520792308984 NA FALSE NA 1 8.933 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA CGG G,A 1.655e-05 17:78396333 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 missense_variant 7.474541 0.99074 0.99138 0.732398 0.999622224794795 0 0.000957081939012816 FALSE 1.2194e-05 ENSE00001329944_014 ENSE00001329944 014 17 76392338 76392507 + 51 78 41 C T 76392418 3233 81 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTTGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396336 78396337 78396337 exon 30 0.384615384615385 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTTGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant 11 30 0.85 0.85 0.85 32 337 0.721694409139628 0.814621836192079 0.768158122665853 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 -0.141275461888598 -0.0949248500538002 -0.212034855209524 -0.147527406599423 0.968100155971199 0.947939253570327 -0.118100155971199 -0.179781130904474 0.0616809749332747 FALSE FALSE 0.008 -1.574 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 COSM1386416 1 NA TCG C,T 2.483e-05 17:78396337 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 synonymous_variant 2.33368 0.75154 0.0762 0.732398 0.803066306437443 0 0.000957081939012816 FALSE 2.84567e-05 ENSE00001329944_017 ENSE00001329944 017 17 76392338 76392507 + 51 78 41 T C 76392432 3236 95 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCCCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396350 78396351 78396351 exon -35 0.564102564102564 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCCCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 561 12 0.996952963506778 0.996764202126965 0.996858582816871 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0632236991576256 0.0346149593354629 0.968100155971199 0.947939253570327 NA 0.0489193292465442 NA FALSE NA 1 7.267 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA CTC T,C 8.274e-06 17:78396351 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 missense_variant 5.942755 0.98799 0.98451 0.732398 0.998947350529789 0 0.000957081939012816 FALSE 4.07007e-06 ENSE00001329944_019 ENSE00001329944 019 17 76392338 76392507 + 51 78 41 T C 76392438 3238 101 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCCGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396356 78396357 78396357 exon -29 0.641025641025641 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCCGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 137 237 1 1 1 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0662707356508481 0.0378507572084981 0.968100155971199 0.947939253570327 NA 0.0520607464296731 NA FALSE NA 1 7.267 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA CTG T,C 8.273e-06 17:78396357 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 missense_variant 6.332058 0.98799 0.98451 0.732398 0.999019448458667 0 0.000957081939012816 FALSE 4.07438e-06 ENSE00001329944_021 ENSE00001329944 021 17 76392338 76392507 + 51 78 41 G C 76392466 3240 129 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTCGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396384 78396385 78396385 exon -1 1 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTCGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant 52 107 0.0250829864846693 0.0877721859170415 0.0564275862008554 NA NA NA NA NA 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 -0.966192475403928 -0.857152664136759 NA NA 0.968100155971199 0.947939253570327 -0.911672569770343 NA NA NA TRUE 1 4.866 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA TGG G,C 8.27e-06 17:78396385 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 splice_region_variant 1.964231 0.98575 0.97521 0.732398 0.959886041782525 0 0.000957081939012816 FALSE 4.12677e-06 ENSE00001329944_022 ENSE00001329944 022 17 76392338 76392507 + 51 78 41 G A 76392480 3241 143 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGAGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 78396398 78396399 78396399 downstr_intron 14 1.35 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGAGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 119 412 1 0.998202911977295 0.999101455988648 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0662707356508481 0.0360536691857936 0.968100155971199 0.947939253570327 NA 0.0511622024183208 NA FALSE NA 0.547 2.393 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA GGG G,A 1.654e-05 17:78396399 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 intron_variant 0.622504 0.41032 0.79855 0.099367 0.816612301131375 0.49417 0.000957081939012816 FALSE 8.71232e-06 ENSE00001329944_024 ENSE00001329944 024 17 76392338 76392507 + 51 78 41 C G 76392497 3243 160 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGGAATAGTGAAT 78396256 78396426 78396415 78396416 78396416 downstr_intron 31 1.775 GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGGAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT mutant NA NA NA NA NA 317 75 0.996039045925185 1 0.998019522962593 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA 0.0623097815760333 0.0378507572084981 0.968100155971199 0.947939253570327 NA 0.0500802693922657 NA FALSE NA 0.001 0.415 . intron_variant MODIFIER PGS1 HGNC 30029 ENST00000329897 2/8 1 NA GCA C,G 2.481e-05 17:78396416 PGS1 HGNC Symbol protein_coding 46474 ENSG00000087157 ENSE00003695812 intron_variant 0.192143 0.22559 0.03792 0.099367 0.436459562235402 0.046323 0.000957081939012816 FALSE 9.19261e-06 ENSE00001329944_BRK ENSE00001329944 BRK 17 76392338 76392507 + 51 78 41 A,G; T,T NA NA NA GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCTTGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGCCAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT 78396256 78396426 NA NA NA NA NA NA GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCTTGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGCCAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT GTGAACCATGAAAATGATGAATTTGAATTTTGAATTTTTCTCCTCTCTCAGGGGCAGATAAGAGTAGCCAAGAGGCGGGTCGTGATGGCATCCCTCTACCTGGGGACAGGTCCTTTGGAACAGGAGCTGGTAAGGTTTATGGGGAGATGGTTGTGGCAGCAATAGTGAAT control NA NA NA NA NA 290 318 0 0.00115134493495258 0.000575672467476288 0.991275461888597 0.9449248500538 0.933729264349152 0.962149242791502 NA NA -0.933729264349152 -0.960997897856549 0.968100155971199 0.947939253570327 NA -0.947363581102851 NA TRUE NA NA NA NA NA NA PGS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGS1 NA NA NA ENSG00000087157 ENSE00003695812 NA NA NA NA NA NA NA 0.000957081939012816 FALSE NA ENSE00001330561_000 ENSE00001330561 000 1 100181106 100181275 - 36 87 47 NA NA NA NA NA CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 NA NA NA NA NA NA CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC natural 34 61 0.993238484608718 0.885096711544112 0.939167598076415 304 328 0.996738243832987 0.90618715046511 0.951462697149049 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 0 0 0 0 0.939167598076415 0.951462697149049 0 0 0 FALSE FALSE NA NA NA NA NA FRRS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRRS1 NA NA NA ENSG00000156869 ENSE00003536712 NA NA NA NA NA NA NA 5.4989943969967e-08 FALSE NA ENSE00001330561_002 ENSE00001330561 002 1 100181106 100181275 - 36 87 47 C T 100181123 2643 153 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAAGGTTTTTTTTATAAATC 99715549 99715719 99715566 99715567 99715567 downstr_intron 19 1.54285714285714 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAAGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 22 71 0.998114231434472 1 0.999057115717236 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA 0.00137598760148505 0.0938128495348896 0.939167598076415 0.951462697149049 NA 0.0475944185681873 NA FALSE NA 0 0.714 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 12/16 1 NA CCT C,T 4.118e-05 1:99715567 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 intron_variant -0.177273 0.16995 0.07904 0.106106 0.225772691884343 0.0689857 5.4989943969967e-08 FALSE 2.11617e-05 ENSE00001330561_003 ENSE00001330561 003 1 100181106 100181275 - 36 87 47 T A 100181124 2644 152 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATTGGGTTTTTTTTATAAATC 99715549 99715719 99715567 99715568 99715568 downstr_intron 18 1.51428571428571 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATTGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 43 27 0.95357928705985 0.963141341837875 0.958360314448862 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.0431589567731374 0.0569541913727649 0.939167598076415 0.951462697149049 NA 0.00689761729981375 NA FALSE NA 0 -0.513 rs115494460 intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 12/16 rs115494460 1 A:0.0084 A:0 A:0.0144 NA A:0 A:0.0229 A:0.0092 A:0.0048 A:0.0207 CTA T,A 0.016 1:99715568 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 intron_variant 0.090132 0.16342 0.03586 0.106106 0.360814189679148 0.120118 5.4989943969967e-08 FALSE 0.0166181 ENSE00001330561_004 ENSE00001330561 004 1 100181106 100181275 - 36 87 47 G C 100181131 2645 145 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATGTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715574 99715575 99715575 downstr_intron 11 1.31428571428571 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATGTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 1472 84 0.960350744812126 0.77430820033286 0.867329472572493 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.0363874990208606 -0.131878950132251 0.939167598076415 0.951462697149049 NA -0.0841332245765556 NA FALSE NA 0.027 0.825 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 12/16 rs201835595 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0 C:0.0005 AGA G,C 0.0001235 1:99715575 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 intron_variant -0.330144 0.20019 0.09548 0.106106 0.485968777103691 0.154311 5.4989943969967e-08 FALSE 0.000143993 ENSE00001330561_005 ENSE00001330561 005 1 100181106 100181275 - 36 87 47 A C 100181145 2646 131 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGGAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715588 99715589 99715589 exon -4 0.96551724137931 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGGAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 69 83 0.988704453662447 0.845841880707558 0.917273167185003 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.00803379017054018 -0.0603452697575523 0.939167598076415 0.951462697149049 NA -0.0341895299640462 NA FALSE NA 0.056 0.257 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 1 benign(0.33) NA TAC A,C 1.647e-05 1:99715589 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant 3.601345 0.90592 0.38209 0.706298 0.996525556495328 0 5.4989943969967e-08 FALSE 1.21948e-05 ENSE00001330561_006 ENSE00001330561 006 1 100181106 100181275 - 36 87 47 C T 100181146 2647 130 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAATAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715589 99715590 99715590 exon -5 0.954022988505747 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAATAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 55 113 0.890370669815539 0.991504515775097 0.940937592795318 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.106367574017448 0.0853173653099869 0.939167598076415 0.951462697149049 NA -0.0105251043537306 NA FALSE NA 0.998 3.706 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 1 benign(0.157) NA ACT C,T 3.295e-05 1:99715590 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant 2.344936 0.97771 0.88209 0.706298 0.953469612390558 0 5.4989943969967e-08 FALSE 1.6259e-05 ENSE00001330561_010 ENSE00001330561 010 1 100181106 100181275 - 36 87 47 C T 100181169 2651 107 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCATTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715612 99715613 99715613 exon -28 0.689655172413793 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCATTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 30 18 1 1 1 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA 0.00326175616701296 0.0938128495348896 0.939167598076415 0.951462697149049 NA 0.0485373028509513 NA FALSE NA 0.884 -0.161 rs188650804 synonymous_variant LOW FRRS1 HGNC 27622 ENST00000414213 12/17 rs188650804 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 4.118e-05 1:99715613 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 synonymous_variant 0.836999 0.90754 0.26031 0.706298 0.462073708538607 0 5.4989943969967e-08 FALSE 2.43746e-05 ENSE00001330561_011 ENSE00001330561 011 1 100181106 100181275 - 36 87 47 G A 100181170 2652 106 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCTGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715613 99715614 99715614 exon -29 0.67816091954023 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCTGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 105 49 0.895023818268803 0.99348922832707 0.944256523297937 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.101714425564184 0.0873020778619595 0.939167598076415 0.951462697149049 NA -0.00720617385111211 NA FALSE NA 1 6.545 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 1 probably_damaging(0.995) NA CGG G,A 4.942e-05 1:99715614 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant 4.645684 0.98685 0.95902 0.706298 0.99796316428465 0 5.4989943969967e-08 FALSE 3.6564e-05 ENSE00001330561_012 ENSE00001330561 012 1 100181106 100181275 - 36 87 47 C A 100181177 2653 99 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTTTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715620 99715621 99715621 exon -36 0.597701149425287 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTTTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 57 12 0.991834383008142 1 0.995917191504071 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.00490386082484506 0.0938128495348896 0.939167598076415 0.951462697149049 NA 0.0444544943550222 NA FALSE NA 0.155 -0.071 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 1 benign(0.043) NA ACA C,A 8.236e-06 1:99715621 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant 2.221195 0.23493 0.05334 0.706298 0.994743000616709 0 5.4989943969967e-08 FALSE 4.0621e-06 ENSE00001330561_013 ENSE00001330561 013 1 100181106 100181275 - 36 87 47 G C 100181195 2654 81 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCGTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715638 99715639 99715639 exon 34 0.390804597701149 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCGTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 33 49 0.988207331131621 1 0.994103665565811 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.00853091270136563 0.0938128495348896 0.939167598076415 0.951462697149049 NA 0.042640968416762 NA FALSE NA 1 4.879 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 1 possibly_damaging(0.858) NA AGG G,C 1.647e-05 1:99715639 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant 3.23622 0.97866 0.94379 0.706298 0.986065602719864 0 5.4989943969967e-08 FALSE 8.12473e-06 ENSE00001330561_014 ENSE00001330561 014 1 100181106 100181275 - 36 87 47 C G 100181198 2655 78 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTCTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715641 99715642 99715642 exon 31 0.35632183908046 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTCTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 20 46 0.992247493376183 0.994830076286279 0.993538784831231 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.00449075045680447 0.0886429258211689 0.939167598076415 0.951462697149049 NA 0.0420760876821822 NA FALSE NA 0 0.016 rs147795148 missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 rs147795148 1 benign(0.001) NA G:0 G:0.0001 ACA C,G 1.647e-05 1:99715642 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant -0.290044 0.23577 0.04359 0.706298 0.346846453782088 0 5.4989943969967e-08 FALSE 1.21874e-05 ENSE00001330561_017 ENSE00001330561 017 1 100181106 100181275 - 36 87 47 G C 100181206 2658 70 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCAGCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715649 99715650 99715650 exon 23 0.264367816091954 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCAGCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 19 19 0.983462724066048 1 0.991731362033024 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.0132755197669389 0.0938128495348896 0.939167598076415 0.951462697149049 NA 0.0402686648839753 NA FALSE NA 0.014 1.458 rs143774581 missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 rs143774581 1 benign(0.15) NA C:0 C:0.0001 GGT G,C 4.118e-05 1:99715650 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant 1.781002 0.37662 0.15464 0.706298 0.865900665996246 0 5.4989943969967e-08 FALSE 4.06227e-05 ENSE00001330561_018 ENSE00001330561 018 1 100181106 100181275 - 36 87 47 T G 100181207 2659 69 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCCCCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715650 99715651 99715651 exon 22 0.252873563218391 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCCCCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 129 25 0.997842270642822 0.978763404953654 0.988302837798238 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA 0.00110402680983501 0.0725762544885438 0.939167598076415 0.951462697149049 NA 0.0368401406491894 NA FALSE NA 0.011 0.979 . missense_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 1 possibly_damaging(0.541) NA GTG T,G 8.236e-06 1:99715651 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant 1.992024 0.29668 0.10199 0.706298 0.84276445576164 0 5.4989943969967e-08 FALSE 8.12579e-06 ENSE00001330561_019 ENSE00001330561 019 1 100181106 100181275 - 36 87 47 G A 100181208 2660 68 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTTACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715651 99715652 99715652 exon 21 0.241379310344828 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTTACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 21 49 1 0.990191597393793 0.995095798696896 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA 0.00326175616701296 0.0840044469286826 0.939167598076415 0.951462697149049 NA 0.0436331015478478 NA FALSE NA 0.005 -0.238 . synonymous_variant LOW FRRS1 HGNC 27622 ENST00000414213 12/17 1 NA TGA G,A 1.647e-05 1:99715652 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 synonymous_variant 0.473414 0.23642 0.04005 0.706298 0.535077870730102 0 5.4989943969967e-08 FALSE 1.21867e-05 ENSE00001330561_024 ENSE00001330561 024 1 100181106 100181275 - 36 87 47 C A 100181228 2665 48 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGTTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715671 99715672 99715672 exon 1 0.0114942528735632 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGTTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 49 11 0.916579096293503 0.942059478846864 0.929319287570183 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.0801591475394844 0.0358723283817537 0.939167598076415 0.951462697149049 NA -0.0221434095788653 NA FALSE NA 1 0.643 . missense_variant&splice_region_variant MODERATE FRRS1 HGNC 27622 ENST00000414213 12/17 1 benign(0.02) NA ACC C,A 8.236e-06 1:99715672 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 missense_variant 2.076013 0.96315 0.71867 0.6512 0.963408418251967 0 5.4989943969967e-08 FALSE 8.1365e-06 ENSE00001330561_025 ENSE00001330561 025 1 100181106 100181275 - 36 87 47 T C 100181242 2666 34 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCGTTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715685 99715686 99715686 upstr_intron -14 -0.276595744680851 CTTTTACATGGATAAGTGTCTTCTTAATTTGTCGTTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 14 14 0.997022856365002 1 0.998511428182501 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA 0.000284612532014727 0.0938128495348896 0.939167598076415 0.951462697149049 NA 0.0470487310334521 NA FALSE NA 0 -0.896 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 11/16 rs376206721 1 NA C:0 C:0.0001 ATG T,C 8.236e-06 1:99715686 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 intron_variant -0.043835 0.16116 0.03181 0.106106 0.289512328323571 0.109521 5.4989943969967e-08 FALSE 4.07505e-06 ENSE00001330561_026 ENSE00001330561 026 1 100181106 100181275 - 36 87 47 A T 100181257 2667 19 CTTTTACATGGATAAGTGACTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715700 99715701 99715701 upstr_intron -29 -0.595744680851064 CTTTTACATGGATAAGTGACTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 18 46 0.841796142729359 0.705925182618576 0.773860662673967 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.154942101103628 -0.200261967846535 0.939167598076415 0.951462697149049 NA -0.177602034475081 NA FALSE NA 0.018 2.079 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 11/16 1 NA GAC A,T 8.236e-06 1:99715701 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 intron_variant -0.031641 0.30719 0.23861 0.106106 0.675429777049257 0.0456277 5.4989943969967e-08 FALSE 4.07787e-06 ENSE00001330561_027 ENSE00001330561 027 1 100181106 100181275 - 36 87 47 C G 100181260 2668 16 CTTTTACATGGATAACTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715703 99715704 99715704 upstr_intron -32 -0.659574468085106 CTTTTACATGGATAACTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 33 40 1 1 1 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA 0.00326175616701296 0.0938128495348896 0.939167598076415 0.951462697149049 NA 0.0485373028509513 NA FALSE NA 0 0.201 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 11/16 1 NA ACT C,G 8.236e-06 1:99715704 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 intron_variant -0.241614 0.08071 0.00023 0.106106 0.438976146644952 0.0456277 5.4989943969967e-08 FALSE 4.07824e-06 ENSE00001330561_028 ENSE00001330561 028 1 100181106 100181275 - 36 87 47 T C 100181264 2669 12 CTTTTACATGGGTAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC 99715549 99715719 99715707 99715708 99715708 upstr_intron -36 -0.74468085106383 CTTTTACATGGGTAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC CTTTTACATGGATAAGTGTCTTCTTAATTTGTCATTTTACCTTGCAGGTGCATCGGATGCTCATGTTCACCACAACTGTCCTCACCTGCATTGCTTTTGTTATGCCGTTTATATACAGGGGAGGCTGGAGTAGGGTAAGTATATCTTAAATAGGGTTTTTTTTATAAATC mutant NA NA NA NA NA 135 14 0.937243729518884 1 0.968621864759442 0.993238484608718 0.885096711544112 0.996738243832987 0.90618715046511 NA NA -0.0594945143141029 0.0938128495348896 0.939167598076415 0.951462697149049 NA 0.0171591676103933 NA FALSE NA 0 -1.862 . intron_variant MODIFIER FRRS1 HGNC 27622 ENST00000414213 11/16 1 NA ATC T,C 3.295e-05 1:99715708 FRRS1 HGNC Symbol protein_coding 57999 ENSG00000156869 ENSE00003536712 intron_variant -0.25964 0.08322 0.00919 0.106106 0.291152326636906 0.0456277 5.4989943969967e-08 FALSE 3.67479e-05 ENSE00001330786_000 ENSE00001330786 000 8 139749714 139749883 - 53 54 63 NA NA NA NA NA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 NA NA NA NA NA NA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA natural NA NA NA NA NA 6611 5637 0.916264292085733 0.996193974886425 0.956229133486079 NA NA 0.916264292085733 0.996193974886425 NA NA 0 0 NA 0.956229133486079 NA 0 NA FALSE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001330786 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001330786_001 ENSE00001330786 001 8 139749714 139749883 - 53 54 63 C T 139749733 2784 151 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACACTGCTTTTCTCTGATTAAA 138737470 138737640 138737489 138737490 138737490 downstr_intron 34 1.65384615384615 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACACTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 272 276 0.999697008383813 1 0.999848504191907 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0834327162980795 0.00380602511357542 NA 0.956229133486079 NA 0.0436193707058274 NA FALSE NA 0 -2.535 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 23/64 1 NA GCG C,T 2.471e-05 8:138737490 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant 0.100758 0.13766 0.01412 0.074388 0.379193799121683 0.115313 8.25832618148535e-32 FALSE 3.26291e-05 ENSE00001330786_002 ENSE00001330786 002 8 139749714 139749883 - 53 54 63 G A 139749734 2785 150 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAATGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737490 138737491 138737491 downstr_intron 33 1.63461538461538 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAATGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 650 274 1 0.998264437249573 0.999132218624787 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 0.00207046236314878 NA 0.956229133486079 NA 0.0429030851387077 NA FALSE NA 0 -1.048 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 23/64 rs369860109 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0 A:0.0001 CGT G,A 5.765e-05 8:138737491 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant -0.350009 0.13709 0.01463 0.074388 0.309406317082099 0.172721 8.25832618148535e-32 FALSE 6.11342e-05 ENSE00001330786_003 ENSE00001330786 003 8 139749714 139749883 - 53 54 63 T C 139749735 2786 149 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAGCGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737491 138737492 138737492 downstr_intron 32 1.61538461538462 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAGCGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 367 134 0.999099453117324 1 0.999549726558662 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0828351610315906 0.00380602511357542 NA 0.956229133486079 NA 0.043320593072583 NA FALSE NA 0 0.104 rs112481879 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 23/64 rs112481879 1 NA GTT T,C 1.647e-05 8:138737492 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant -0.16281 0.19563 0.04983 0.074388 0.40018241617481 0.115313 8.25832618148535e-32 FALSE 1.22262e-05 ENSE00001330786_004 ENSE00001330786 004 8 139749714 139749883 - 53 54 63 G T 139749737 2787 147 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGAAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737493 138737494 138737494 downstr_intron 30 1.57692307692308 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGAAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 251 120 0.998514963970231 1 0.999257481985115 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0822506718844971 0.00380602511357542 NA 0.956229133486079 NA 0.0430283484990363 NA FALSE NA 0 -0.2 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 23/64 rs373054303 1 NA T:0.0002 T:0 TGC G,T 1.647e-05 8:138737494 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant -0.257845 0.19802 0.05494 0.074388 0.696790303418252 0.172652 8.25832618148535e-32 FALSE 8.14571e-06 ENSE00001330786_007 ENSE00001330786 007 8 139749714 139749883 - 53 54 63 T C 139749751 2790 133 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACGTTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737507 138737508 138737508 downstr_intron 16 1.30769230769231 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACGTTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 209 326 1 1 1 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 0.00380602511357542 NA 0.956229133486079 NA 0.043770866513921 NA FALSE NA 0 -1.191 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 23/64 1 NA ATG T,C 8.236e-06 8:138737508 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant 0.086143 0.17484 0.02804 0.074388 0.801195873120479 0.177245 8.25832618148535e-32 FALSE 4.06577e-06 ENSE00001330786_008 ENSE00001330786 008 8 139749714 139749883 - 53 54 63 G T 139749758 2791 126 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACATTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737514 138737515 138737515 downstr_intron 9 1.17307692307692 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACATTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 640 3323 0.86446493952414 0.999043737375519 0.931754338449829 NA NA 0.916264292085733 0.996193974886425 NA NA -0.0517993525615933 0.00284976248909408 NA 0.956229133486079 NA -0.0244747950362496 NA FALSE NA 0 -0.472 rs4302884 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 23/64 rs4302884 1 T:0.0757 T:0.0469 T:0.0677 NA T:0.2173 T:0.004 T:0.0481 T:0.0404 T:0.004 AGG G,T 0.04 8:138737515 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant 0.384012 0.19381 0.05327 0.074388 0.827671603022656 0.177766 8.25832618148535e-32 FALSE 0.0446413 ENSE00001330786_009 ENSE00001330786 009 8 139749714 139749883 - 53 54 63 T C 139749763 2792 121 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAGCTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737519 138737520 138737520 downstr_intron 4 1.07692307692308 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAGCTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 156 461 0.994601482476943 0.995716776235371 0.995159129356157 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0783371903912099 -0.000477198651054 NA 0.956229133486079 NA 0.0389299958700779 NA FALSE NA 0.977 2.97 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 23/64 1 NA GTT T,C 2.471e-05 8:138737520 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 splice_region_variant 1.713913 0.87262 0.65961 0.074388 0.935529078453576 0.477819 8.25832618148535e-32 FALSE 1.62543e-05 ENSE00001330786_010 ENSE00001330786 010 8 139749714 139749883 - 53 54 63 C A 139749766 2793 118 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGTTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737522 138737523 138737523 downstr_intron 1 1.01923076923077 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGTTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 57 153 0.201764746115292 0.0275669528399215 0.114665849477607 NA NA 0.916264292085733 0.996193974886425 NA NA -0.714499545970442 -0.968627022046503 NA 0.956229133486079 NA -0.841563284008472 NA TRUE NA 1 2.898 . splice_donor_variant HIGH COL22A1 HGNC 22989 ENST00000303045 23/64 1 NA HC ACC C,A 8.236e-06 8:138737523 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 splice_donor_variant 4.967096 0.92214 0.73013 0.074898 0.983612419556489 0.962949 8.25832618148535e-32 FALSE 1.21897e-05 ENSE00001330786_012 ENSE00001330786 012 8 139749714 139749883 - 53 54 63 G A 139749795 2795 89 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACTTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737551 138737552 138737552 exon 26 0.481481481481481 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACTTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 403 23 1 1 1 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 0.00380602511357542 NA 0.956229133486079 NA 0.043770866513921 NA FALSE NA 0.992 3.662 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 23/65 1 unknown(0) NA AGG G,A 8.236e-06 8:138737552 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 missense_variant 2.100901 0.34009 0.55756 0.653281 0.991328045485345 0 8.25832618148535e-32 FALSE 8.1248e-06 ENSE00001330786_013 ENSE00001330786 013 8 139749714 139749883 - 53 54 63 G A 139749796 2796 88 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCATCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737552 138737553 138737553 exon 25 0.462962962962963 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCATCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 788 148 0.994904631510978 1 0.997452315755489 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0786403394252446 0.00380602511357542 NA 0.956229133486079 NA 0.04122318226941 NA FALSE NA 0.908 0.92 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 23/65 rs369764152 1 unknown(0) NA A:0 A:0.0001 GGT G,A 4.118e-05 8:138737553 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 missense_variant 1.279342 0.2257 0.26252 0.653281 0.93748392423172 0 8.25832618148535e-32 FALSE 3.65622e-05 ENSE00001330786_015 ENSE00001330786 015 8 139749714 139749883 - 53 54 63 C A 139749801 2798 83 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGTACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737557 138737558 138737558 exon 20 0.37037037037037 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGTACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 1552 353 0.949832560388336 1 0.974916280194168 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0335682683026026 0.00380602511357542 NA 0.956229133486079 NA 0.018687146708089 NA FALSE NA 0.422 2.898 rs149814408 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 23/65 rs149814408 1 unknown(0) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TCC C,A 1.647e-05 8:138737558 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 missense_variant 2.134602 0.36875 0.25284 0.653281 0.966550209222761 0 8.25832618148535e-32 FALSE 1.62509e-05 ENSE00001330786_016 ENSE00001330786 016 8 139749714 139749883 - 53 54 63 C T 139749803 2799 81 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATAGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737559 138737560 138737560 exon 18 0.333333333333333 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATAGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 225 323 1 0.97280903587635 0.986404517938175 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 -0.023384939010075 NA 0.956229133486079 NA 0.0301753844520958 NA FALSE NA 0.004 -0.247 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 23/65 1 unknown(0) NA CCA C,T 1.647e-05 8:138737560 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 missense_variant 0.625499 0.20114 0.04934 0.653281 0.621315812009645 0 8.25832618148535e-32 FALSE 8.12526e-06 ENSE00001330786_017 ENSE00001330786 017 8 139749714 139749883 - 53 54 63 A C 139749804 2800 80 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACAGGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737560 138737561 138737561 exon 17 0.314814814814815 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACAGGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 744 487 1 0.999675113843406 0.999837556921703 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 0.0034811389569811 NA 0.956229133486079 NA 0.0436084234356238 NA FALSE NA 0 -0.441 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 23/65 1 unknown(0) NA CAT A,C 3.295e-05 8:138737561 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 missense_variant -0.485945 0.11211 0.01806 0.653281 0.289198040616538 0 8.25832618148535e-32 FALSE 2.43742e-05 ENSE00001330786_019 ENSE00001330786 019 8 139749714 139749883 - 53 54 63 T C 139749807 2802 77 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGGCATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737563 138737564 138737564 exon 14 0.259259259259259 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGGCATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 434 23 0.651172306179832 0.842051260602074 0.746611783390953 NA NA 0.916264292085733 0.996193974886425 NA NA -0.265091985905902 -0.154142714284351 NA 0.956229133486079 NA -0.209617350095126 NA FALSE NA 0.811 2.97 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 23/65 1 unknown(0) NA GTC T,C 8.236e-06 8:138737564 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 missense_variant 1.585184 0.91155 0.48156 0.653281 0.992450216912 0 8.25832618148535e-32 FALSE 4.06279e-06 ENSE00001330786_022 ENSE00001330786 022 8 139749714 139749883 - 53 54 63 A C 139749837 2805 47 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTGCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737593 138737594 138737594 upstr_intron -17 -0.253968253968254 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTGCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 13 511 1 1 1 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 0.00380602511357542 NA 0.956229133486079 NA 0.043770866513921 NA FALSE NA 0.376 0.867 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 22/64 rs200847724 1 NA C:0.0005 C:0.0002 GAA A,C 9.884e-05 8:138737594 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant 0.47864 0.13747 0.07693 0.074898 0.846274587703266 0.19627 8.25832618148535e-32 FALSE 0.000187458 ENSE00001330786_023 ENSE00001330786 023 8 139749714 139749883 - 53 54 63 T C 139749841 2806 43 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTGGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737597 138737598 138737598 upstr_intron -21 -0.317460317460317 ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTGGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 116 69 1 0.978792735058426 0.989396367529213 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 -0.0174012398279983 NA 0.956229133486079 NA 0.0331672340431341 NA FALSE NA 0.001 -0.161 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 22/64 1 NA CTA T,C 1.647e-05 8:138737598 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant 0.890731 0.08842 5e-04 0.074898 0.838019178884009 0.213386 8.25832618148535e-32 FALSE 8.15581e-06 ENSE00001330786_024 ENSE00001330786 024 8 139749714 139749883 - 53 54 63 G A 139749856 2807 28 ATTAAACCCCCTCTGGTTGACAATTGCTTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737612 138737613 138737613 upstr_intron -36 -0.555555555555556 ATTAAACCCCCTCTGGTTGACAATTGCTTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 723 1315 0.995414661139537 0.999064493974864 0.9972395775572 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0791503690538036 0.00287051908843927 NA 0.956229133486079 NA 0.0410104440711214 NA FALSE NA 0 0.01 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 22/64 1 NA AGG G,A 1.647e-05 8:138737613 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant 0.803817 0.13105 0.00921 0.074898 0.804641567045463 0.0456713 8.25832618148535e-32 FALSE 8.17708e-06 ENSE00001330786_025 ENSE00001330786 025 8 139749714 139749883 - 53 54 63 G A 139749857 2808 27 ATTAAACCCCCTCTGGTTGACAATTGTCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737613 138737614 138737614 upstr_intron -37 -0.571428571428571 ATTAAACCCCCTCTGGTTGACAATTGTCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 326 94 0.993619025558427 1 0.996809512779213 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0773547334726931 0.00380602511357542 NA 0.956229133486079 NA 0.0405803792931342 NA FALSE NA 0 -0.835 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 22/64 1 NA GGC G,A 8.236e-06 8:138737614 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant 0.599121 0.13696 0.01089 0.074898 0.787529188381019 0.0456713 8.25832618148535e-32 FALSE 8.18826e-06 ENSE00001330786_026 ENSE00001330786 026 8 139749714 139749883 - 53 54 63 T C 139749861 2809 23 ATTAAACCCCCTCTGGTTGACAGTTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737617 138737618 138737618 upstr_intron -41 -0.634920634920635 ATTAAACCCCCTCTGGTTGACAGTTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 31 315 1 1 1 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 0.00380602511357542 NA 0.956229133486079 NA 0.043770866513921 NA FALSE NA 0 -2.148 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 22/64 1 NA ATT T,C 8.236e-06 8:138737618 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant -0.262014 0.06932 0.00714 0.074898 0.666940120467857 0.0456713 8.25832618148535e-32 FALSE 4.09202e-06 ENSE00001330786_027 ENSE00001330786 027 8 139749714 139749883 - 53 54 63 C A 139749868 2810 16 ATTAAACCCCCTCTGTTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA 138737470 138737640 138737624 138737625 138737625 upstr_intron -48 -0.746031746031746 ATTAAACCCCCTCTGTTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA ATTAAACCCCCTCTGGTTGACAATTGCCTGCTTGTTAATTTTAGCTTCTTCTTTTACACTCAGGGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAGGTAACTACCTTTTACATTCTCTTCCATAGCAACGCTGCTTTTCTCTGATTAAA mutant NA NA NA NA NA 258 810 1 0.99548243531784 0.99774121765892 NA NA 0.916264292085733 0.996193974886425 NA NA 0.0837357079142665 -0.000711539568584496 NA 0.956229133486079 NA 0.041512084172841 NA FALSE NA 0 0.136 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 22/64 1 NA ACC C,A 8.236e-06 8:138737625 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001330786 intron_variant 0.154484 0.15106 0.04035 0.074898 0.501237687410895 0.0456713 8.25832618148535e-32 FALSE NA ENSE00001331614_000 ENSE00001331614 000 20 31654567 31654736 + 63 54 53 NA NA NA NA NA TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 NA NA NA NA NA NA TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT natural 64 58 0.841387752991339 0.85 0.845693876495669 1382 2917 0.741001180486192 0.809625924557288 0.77531355252174 0.841387752991339 0.85 0.741001180486192 0.809625924557288 0 0 0 0 0.845693876495669 0.77531355252174 0 0 0 FALSE FALSE NA NA NA NA NA BPIFB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BPIFB3 NA NA NA ENSG00000186190 ENSE00001331614 NA NA NA NA NA NA NA 1.27011210022581e-05 FALSE NA ENSE00001331614_004 ENSE00001331614 004 20 31654567 31654736 + 63 54 53 G A 31654597 688 31 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTACTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066790 33066791 33066791 upstr_intron -33 -0.507936507936508 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTACTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 197 204 0.975529274492011 0.976265691117713 0.975897482804862 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.234528094005819 0.166639766560425 0.845693876495669 0.77531355252174 NA 0.200583930283122 NA FALSE NA 0.002 0.027 . intron_variant MODIFIER BPIFB3 HGNC 16178 ENST00000375494 8/14 1 NA TGC G 1.647e-05 20:33066791 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 intron_variant 0.723492 0.18269 0.03668 0.053691 0.745892286949711 0.0414318 1.27011210022581e-05 FALSE 8.12407e-06 ENSE00001331614_005 ENSE00001331614 005 20 31654567 31654736 + 63 54 53 T C 31654613 689 47 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCCCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066806 33066807 33066807 upstr_intron -17 -0.253968253968254 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCCCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 67 83 0.00575928583859173 0.0118116894906108 0.00878548766460127 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA -0.7352418946476 -0.797814235066677 0.845693876495669 0.77531355252174 NA -0.766528064857139 NA TRUE NA 0.005 0.692 . intron_variant MODIFIER BPIFB3 HGNC 16178 ENST00000375494 8/14 1 NA CTC T 1.647e-05 20:33066807 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 intron_variant 0.553678 0.20194 0.04116 0.053691 0.772384065644629 0.0414635 1.27011210022581e-05 FALSE 8.12176e-06 ENSE00001331614_009 ENSE00001331614 009 20 31654567 31654736 + 63 54 53 G A 31654622 693 56 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGAGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066815 33066816 33066816 upstr_intron -8 -0.111111111111111 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGAGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 107 551 0.998060918628836 0.98881519192642 0.993438055277628 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.257059738142644 0.179189267369132 0.845693876495669 0.77531355252174 NA 0.218124502755888 NA FALSE NA 0 -0.033 . splice_region_variant&intron_variant LOW BPIFB3 HGNC 16178 ENST00000375494 8/14 rs373286640 1 NA A:0.0002 A:0 GGG G 8.236e-06 20:33066816 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 splice_region_variant 0.126295 0.14016 0.02316 0.053691 0.581640194141721 0.0794912 1.27011210022581e-05 FALSE 4.06081e-06 ENSE00001331614_012 ENSE00001331614 012 20 31654567 31654736 + 63 54 53 C T 31654633 696 67 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTTCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066826 33066827 33066827 exon 4 0.0740740740740741 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTTCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 153 189 0.8 0.8 0.8 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.0589988195138081 -0.00962592455728806 0.845693876495669 0.77531355252174 NA 0.02468644747826 NA FALSE NA 1 3.318 . missense_variant MODERATE BPIFB3 HGNC 16178 ENST00000375494 9/15 1 tolerated(0.13) probably_damaging(1) NA TCC C 8.236e-06 20:33066827 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 missense_variant 4.827679 0.98204 0.94891 0.487112 0.99884467112481 0 1.27011210022581e-05 FALSE 4.06072e-06 ENSE00001331614_013 ENSE00001331614 013 20 31654567 31654736 + 63 54 53 A G 31654636 697 70 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCGGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066829 33066830 33066830 exon 7 0.12962962962963 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCGGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 22 224 0.95 0.842356568777565 0.896178284388782 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.208998819513808 0.0327306442202767 0.845693876495669 0.77531355252174 NA 0.120864731867042 NA FALSE NA 0.456 2.546 . missense_variant MODERATE BPIFB3 HGNC 16178 ENST00000375494 9/15 1 tolerated(0.24) benign(0.015) NA CAG A 8.236e-06 20:33066830 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 missense_variant 2.331542 0.9528 0.64021 0.487112 0.992678536045995 0 1.27011210022581e-05 FALSE 4.06065e-06 ENSE00001331614_021 ENSE00001331614 021 20 31654567 31654736 + 63 54 53 G A 31654666 705 100 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGACAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066859 33066860 33066860 exon -18 0.685185185185185 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGACAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 401 155 0.817933107355182 0.801628973371735 0.809781040363459 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.07693192686899 -0.00799695118555277 0.845693876495669 0.77531355252174 NA 0.0344674878417186 NA FALSE NA 0.992 1.895 . missense_variant MODERATE BPIFB3 HGNC 16178 ENST00000375494 9/15 rs372453694 1 tolerated(0.12) benign(0.153) NA A:0 A:0.0001 GGC G 1.647e-05 20:33066860 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 missense_variant 3.333864 0.97184 0.83427 0.487112 0.99350117068014 0 1.27011210022581e-05 FALSE 8.1213e-06 ENSE00001331614_023 ENSE00001331614 023 20 31654567 31654736 + 63 54 53 C T 31654692 707 126 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGATGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066885 33066886 33066886 downstr_intron 9 1.17307692307692 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGATGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 124 971 0.8 0.89548162150834 0.84774081075417 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.0589988195138081 0.0858556969510521 0.845693876495669 0.77531355252174 NA 0.0724272582324301 NA FALSE NA 0.008 0.115 . intron_variant MODIFIER BPIFB3 HGNC 16178 ENST00000375494 9/14 1 NA ACG C 8.236e-06 20:33066886 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 intron_variant 0.378749 0.17192 0.01612 0.053691 0.590847388091721 0.0943546 1.27011210022581e-05 FALSE 4.06088e-06 ENSE00001331614_024 ENSE00001331614 024 20 31654567 31654736 + 63 54 53 G A 31654693 708 127 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACACTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066886 33066887 33066887 downstr_intron 10 1.19230769230769 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACACTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 1645 41 0.809614800228552 0.8 0.804807400114276 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.0686136197423599 -0.00962592455728806 0.845693876495669 0.77531355252174 NA 0.0294938475925359 NA FALSE NA 0 -0.313 . intron_variant MODIFIER BPIFB3 HGNC 16178 ENST00000375494 9/14 1 NA CGC G 1.647e-05 20:33066887 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 intron_variant 0.052534 0.17615 0.02505 0.053691 0.638996227826388 0.0493715 1.27011210022581e-05 FALSE 2.43653e-05 ENSE00001331614_026 ENSE00001331614 026 20 31654567 31654736 + 63 54 53 A G 31654699 710 133 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCGTGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066892 33066893 33066893 downstr_intron 16 1.30769230769231 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCGTGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 211 765 0.811394971593069 0.816248556229643 0.813821763911356 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.0703937911068769 0.00662263167235477 0.845693876495669 0.77531355252174 NA 0.0385082113896159 NA FALSE NA 0 -0.174 rs55668794 intron_variant MODIFIER BPIFB3 HGNC 16178 ENST00000375494 9/14 rs55668794 1 G:0.0092 G:0.0008 G:0.013 NA G:0 G:0.0268 G:0.0092 G:0.0034 G:0.024 CAT A 0.012 20:33066893 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 intron_variant 0.281967 0.16741 0.03998 0.053691 0.553197097060976 0.0424262 1.27011210022581e-05 FALSE 0.0125769 ENSE00001331614_027 ENSE00001331614 027 20 31654567 31654736 + 63 54 53 T C 31654710 711 144 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGACCATTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066903 33066904 33066904 downstr_intron 27 1.51923076923077 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGACCATTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 390 13 0.83639000003877 0.8 0.818195000019385 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.0953888195525785 -0.00962592455728806 0.845693876495669 0.77531355252174 NA 0.0428814474976452 NA FALSE NA 0 -0.235 . intron_variant MODIFIER BPIFB3 HGNC 16178 ENST00000375494 9/14 rs372706723 1 NA C:0.0002 C:0 ATC T 1.647e-05 20:33066904 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 intron_variant -0.097046 0.14658 0.02508 0.053691 0.509536411853937 0.0483886 1.27011210022581e-05 FALSE 4.06167e-06 ENSE00001331614_028 ENSE00001331614 028 20 31654567 31654736 + 63 54 53 T G 31654713 712 147 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCAGTGTAGCTCTTTCCTGATGACCAT 33066760 33066930 33066906 33066907 33066907 downstr_intron 30 1.57692307692308 TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCAGTGTAGCTCTTTCCTGATGACCAT TGTGCTGAGGGATTCCTGTTCTGTCTCTGTGCTCACCAACCCTCTCTCCCATTGGGGGTCCAGGTTCCCAGCGATGTCCCACTGACAACTACAGACCTGGCAGCTTTGCTCCCTGAGGTGAGTGACGCTCTCATGGGTTTTGATCATTGTAGCTCTTTCCTGATGACCAT mutant NA NA NA NA NA 433 37 0.8 0.903610655070055 0.851805327535027 0.841387752991339 0.85 0.741001180486192 0.809625924557288 NA NA 0.0589988195138081 0.0939847305127665 0.845693876495669 0.77531355252174 NA 0.0764917750132873 NA FALSE NA 0 -3.141 rs113141530 intron_variant MODIFIER BPIFB3 HGNC 16178 ENST00000375494 9/14 rs113141530 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 G:0.003 G:0 ATT T 0.0002389 20:33066907 BPIFB3 HGNC Symbol protein_coding 18204 ENSG00000186190 ENSE00001331614 intron_variant -0.148744 0.12745 0.00462 0.053691 0.476785265381564 0.0483886 1.27011210022581e-05 FALSE 0.000223426 ENSE00001331806_000 ENSE00001331806 000 8 25250265 25250434 + 47 87 36 NA NA NA NA NA CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 NA NA NA NA NA NA CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT natural 135 25 0.804771522538623 0.94319398114773 0.873982751843177 6651 5615 0.9290442273959 0.846487802549456 0.887766014972678 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 0 0 0 0 0.873982751843177 0.887766014972678 0 0 0 FALSE FALSE NA NA NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003574698 NA NA NA NA NA NA NA 0.00134268610814527 FALSE NA ENSE00001331806_001 ENSE00001331806 001 8 25250265 25250434 + 47 87 36 T A 25250276 424 12 CCTCCTGGGAAATGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392759 25392760 25392760 upstr_intron -36 -0.74468085106383 CCTCCTGGGAAATGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 984 929 0.993355962156378 0.964493188750735 0.978924575453556 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.064311734760478 0.118005386201278 0.873982751843177 0.887766014972678 NA 0.0911585604808782 NA FALSE NA 0.007 0.667 . intron_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1/2 1 NA ATT T,A 3.295e-05 8:25392760 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 intron_variant 0.865778 0.70069 0.12658 0.088506 0.741530230975093 0.0997856 0.00134268610814527 FALSE 1.31911e-05 ENSE00001331806_002 ENSE00001331806 002 8 25250265 25250434 + 47 87 36 A G 25250282 425 18 CCTCCTGGGAATTGACCGACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392765 25392766 25392766 upstr_intron -30 -0.617021276595745 CCTCCTGGGAATTGACCGACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 566 407 0.99352371075776 0.982687820790479 0.988105765774119 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0644794833618597 0.136200018241023 0.873982751843177 0.887766014972678 NA 0.100339750801441 NA FALSE NA 0.012 0.29 . intron_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 1/2 1 NA CAA A,G 3.295e-05 8:25392766 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 intron_variant 0.448112 0.75392 0.05736 0.088506 0.521274877489904 0.119502 0.00134268610814527 FALSE 2.9933e-05 ENSE00001331806_003 ENSE00001331806 003 8 25250265 25250434 + 47 87 36 A G 25250283 426 19 CCTCCTGGGAATTGACCAGCATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392766 25392767 25392767 upstr_intron -29 -0.595744680851064 CCTCCTGGGAATTGACCAGCATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 608 1559 0.9985698484031 0.987497142773192 0.993033495588146 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0695256210072004 0.141009340223736 0.873982751843177 0.887766014972678 NA 0.105267480615468 NA FALSE NA 0.012 1.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25392767 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 intron_variant 0.546201 0.83577 0.04415 0.088506 0.604625171474816 0.17265 0.00134268610814527 FALSE 2.13278e-05 ENSE00001331806_004 ENSE00001331806 004 8 25250265 25250434 + 47 87 36 A C 25250283 427 19 CCTCCTGGGAATTGACCACCATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392766 25392767 25392767 upstr_intron -29 -0.595744680851064 CCTCCTGGGAATTGACCACCATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 90 742 0.99485898181809 0.996541423076964 0.995700202447527 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0658147544221896 0.150053620527508 0.873982751843177 0.887766014972678 NA 0.107934187474849 NA FALSE NA 0.012 1.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003574698 intron_variant 0.316158 0.83964 0.10554 0.088506 0.626951669873186 0.17265 0.00134268610814527 FALSE 1.27967e-05 ENSE00001331806_005 ENSE00001331806 005 8 25250265 25250434 + 47 87 36 T G 25250291 428 27 CCTCCTGGGAATTGACCAACATTTCAGGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392774 25392775 25392775 upstr_intron -21 -0.425531914893617 CCTCCTGGGAATTGACCAACATTTCAGGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 358 517 0.243305057704527 0.262077321178383 0.252691189441455 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA -0.685739169691374 -0.584410481371073 0.873982751843177 0.887766014972678 NA -0.635074825531223 NA TRUE NA 0 0.797 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25392775 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 intron_variant 0.223761 0.79695 0.19306 0.088506 0.360924399420724 0.119327 0.00134268610814527 FALSE 1.25617e-05 ENSE00001331806_006 ENSE00001331806 006 8 25250265 25250434 + 47 87 36 T C 25250291 429 27 CCTCCTGGGAATTGACCAACATTTCACGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392774 25392775 25392775 upstr_intron -21 -0.425531914893617 CCTCCTGGGAATTGACCAACATTTCACGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 1594 33 0.967134314928789 0.950924730256473 0.959029522592631 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0380900875328891 0.104436927707017 0.873982751843177 0.887766014972678 NA 0.0712635076199529 NA FALSE NA 0 0.797 NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003574698 intron_variant 0.046938 0.76894 0.07386 0.088506 0.251640105487915 0.119327 0.00134268610814527 FALSE 4.18722e-06 ENSE00001331806_008 ENSE00001331806 008 8 25250265 25250434 + 47 87 36 G A 25250304 431 40 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTACCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392787 25392788 25392788 upstr_intron -8 -0.148936170212766 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTACCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 1150 34 0.916595273602242 0.995319679454877 0.955957476528559 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA -0.0124489537936583 0.148831876905421 0.873982751843177 0.887766014972678 NA 0.0681914615558812 NA FALSE NA 0 -0.455 rs142424635 splice_region_variant&intron_variant&non_coding_transcript_variant LOW DOCK5 HGNC 23476 ENST00000463457 1/2 rs142424635 1 A:0.0042 A:0 A:0 NA A:0.0208 A:0 A:0 TGC G,A 0.001178 8:25392788 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 splice_region_variant 0.93046 0.36428 0.06591 0.088506 0.828289168143443 0.410904 0.00134268610814527 FALSE 0.00131145 ENSE00001331806_009 ENSE00001331806 009 8 25250265 25250434 + 47 87 36 C T 25250305 432 41 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGTCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392788 25392789 25392789 upstr_intron -7 -0.127659574468085 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGTCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 522 575 0.999706310023198 0.993888840370474 0.996797575196836 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0706620826272983 0.147401037821018 0.873982751843177 0.887766014972678 NA 0.109031560224158 NA FALSE NA 0 -0.933 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DOCK5 HGNC 23476 ENST00000463457 1/2 rs374980651 1 NA T:0.0005 T:0.0001 GCC C,T 8.237e-06 8:25392789 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 splice_region_variant 1.361201 0.39939 0.19189 0.088506 0.861318227744911 0.414738 0.00134268610814527 FALSE 8.24117e-06 ENSE00001331806_010 ENSE00001331806 010 8 25250265 25250434 + 47 87 36 C T 25250313 433 49 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGATGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392796 25392797 25392797 exon 2 0.0229885057471264 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGATGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 117 256 1 0.987685993659119 0.99384299682956 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0709557726040999 0.141198191109663 0.873982751843177 0.887766014972678 NA 0.106076981856882 NA FALSE NA 0.555 1.579 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW DOCK5 HGNC 23476 ENST00000463457 2/3 COSM3412945 1 NA ACG C,T 8.237e-06 8:25392797 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 missense_variant 6.595531 0.94728 0.85076 0.6512 0.998345038068163 0 0.00134268610814527 FALSE NA ENSE00001331806_011 ENSE00001331806 011 8 25250265 25250434 + 47 87 36 G A 25250314 434 50 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACAATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392797 25392798 25392798 exon 3 0.0344827586206897 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACAATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 430 749 0.999328128154944 0.981694546314863 0.990511337234903 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0702839007590434 0.135206743765406 0.873982751843177 0.887766014972678 NA 0.102745322262225 NA FALSE NA 0.01 -0.866 rs144001998 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW DOCK5 HGNC 23476 ENST00000463457 2/3 rs144001998 1 NA A:0.0002 A:0 CGA G,A 3.295e-05 8:25392798 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 splice_region_variant 1.305491 0.91254 0.21164 0.6512 0.869792675296066 0 0.00134268610814527 FALSE NA ENSE00001331806_012 ENSE00001331806 012 8 25250265 25250434 + 47 87 36 A C 25250325 435 61 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGCACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392808 25392809 25392809 exon 14 0.160919540229885 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGCACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 299 637 1 0.997628799836257 0.998814399918129 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0709557726040999 0.151140997286801 0.873982751843177 0.887766014972678 NA 0.11104838494545 NA FALSE NA 1 9.26 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 2/3 1 NA GAA A,C 1.647e-05 8:25392809 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 missense_variant 6.251538 0.97573 0.98445 0.6512 0.995997680689462 0 0.00134268610814527 FALSE 1.22649e-05 ENSE00001331806_015 ENSE00001331806 015 8 25250265 25250434 + 47 87 36 A G 25250339 438 75 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATGCGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392822 25392823 25392823 exon 28 0.32183908045977 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATGCGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 2031 247 0.951487291437526 0.966544591694024 0.959015941565775 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0224430640416254 0.120056789144568 0.873982751843177 0.887766014972678 NA 0.0712499265930965 NA FALSE NA 1 6.219 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 2/3 1 NA TAC A,G 8.237e-06 8:25392823 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 missense_variant 1.301294 0.97532 0.94988 0.6512 0.777998416493406 0 0.00134268610814527 FALSE 8.1648e-06 ENSE00001331806_016 ENSE00001331806 016 8 25250265 25250434 + 47 87 36 C T 25250340 439 76 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATATGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392823 25392824 25392824 exon 29 0.333333333333333 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATATGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 582 1027 0.960932148382864 0.937994882380019 0.949463515381442 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0318879209869641 0.0915070798305634 0.873982751843177 0.887766014972678 NA 0.0616975004087638 NA FALSE NA 0.965 2.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25392824 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 missense_variant 2.26963 0.92591 0.70906 0.6512 0.914283881462573 0 0.00134268610814527 FALSE 0.000159285 ENSE00001331806_017 ENSE00001331806 017 8 25250265 25250434 + 47 87 36 C G 25250340 440 76 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATAGGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392823 25392824 25392824 exon 29 0.333333333333333 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATAGGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 887 347 0.945405219281646 0.918261947638057 0.931833583459852 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0163609918857464 0.0717741450886009 0.873982751843177 0.887766014972678 NA 0.0440675684871736 NA FALSE NA 0.965 2.04 NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003574698 missense_variant 3.243509 0.92738 0.81097 0.6512 0.6657721327867 0 0.00134268610814527 FALSE 4.08423e-06 ENSE00001331806_018 ENSE00001331806 018 8 25250265 25250434 + 47 87 36 A G 25250347 441 83 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCGTATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392830 25392831 25392831 exon 36 0.413793103448276 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCGTATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 409 446 0.965801409143625 0.942463009146175 0.9541322091449 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0367571817477245 0.095975206596719 0.873982751843177 0.887766014972678 NA 0.0663661941722217 NA FALSE NA 0 -2.719 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 2/3 rs529798962 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 2.471e-05 8:25392831 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 synonymous_variant -0.18829 0.44863 0.05199 0.6512 0.399838304633367 0 0.00134268610814527 FALSE 1.22397e-05 ENSE00001331806_019 ENSE00001331806 019 8 25250265 25250434 + 47 87 36 T A 25250356 442 92 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTACCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392839 25392840 25392840 exon -43 0.517241379310345 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTACCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 505 1084 0.992090460910771 0.998690340506306 0.995390400708538 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0630462335148708 0.15220253795685 0.873982751843177 0.887766014972678 NA 0.10762438573586 NA FALSE NA 0.754 -0.012 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 2/3 rs548221872 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 TTC T,A 2.471e-05 8:25392840 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 missense_variant 1.134911 0.92891 0.67422 0.6512 0.844549878288021 0 0.00134268610814527 FALSE 1.22531e-05 ENSE00001331806_020 ENSE00001331806 020 8 25250265 25250434 + 47 87 36 G T 25250360 443 96 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTTGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392843 25392844 25392844 exon -39 0.563218390804598 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTTGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 186 1638 0.991752412207258 0.976872292996817 0.984312352602037 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0627081848113583 0.13038449044736 0.873982751843177 0.887766014972678 NA 0.0965463376293594 NA FALSE NA 1 9.735 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 2/3 1 NA TGG G,T 1.647e-05 8:25392844 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 missense_variant 7.177344 0.98072 0.97888 0.6512 0.995381936155496 0 0.00134268610814527 FALSE 8.17281e-06 ENSE00001331806_021 ENSE00001331806 021 8 25250265 25250434 + 47 87 36 T C 25250407 444 143 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCACTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 25392890 25392891 25392891 downstr_intron 9 1.25714285714286 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCACTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 397 1165 0.978485395738007 0.99247357008089 0.985479482909449 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0494411683421072 0.145985767531434 0.873982751843177 0.887766014972678 NA 0.0977134679367707 NA FALSE NA 0.995 1.267 . intron_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 2/2 1 NA ATT T,C 1.648e-05 8:25392891 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 intron_variant 0.502537 0.42075 0.33857 0.088506 0.677345920919779 0.365474 0.00134268610814527 FALSE 1.72027e-05 ENSE00001331806_023 ENSE00001331806 023 8 25250265 25250434 + 47 87 36 A G 25250423 446 159 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTGGAAAAAAACTT 25392748 25392918 25392906 25392907 25392907 downstr_intron 25 1.71428571428571 CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTGGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT mutant NA NA NA NA NA 736 134 0.9979125873718 0.998817918510299 0.99836525294105 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA 0.0688683599758998 0.152330115960843 0.873982751843177 0.887766014972678 NA 0.110599237968372 NA FALSE NA 0 -0.49 rs6557840 intron_variant&non_coding_transcript_variant MODIFIER DOCK5 HGNC 23476 ENST00000463457 2/2 rs6557840 1 G:0.3472 G:0.3222 G:0.3573 NA G:0.3512 G:0.3588 G:0.3579 G:0.3277 G:0.3609 TAG G,G 0.338 8:25392907 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003574698 intron_variant -0.072666 0.22306 0.04363 0.088506 0.659811057040538 0.0868563 0.00134268610814527 FALSE 0.366716 ENSE00001331806_BRK ENSE00001331806 BRK 8 25250265 25250434 + 47 87 36 A,G; T,T NA NA NA CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCTTACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACACCGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT 25392748 25392918 NA NA NA NA NA NA CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCTTACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACACCGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT CCTCCTGGGAATTGACCAACATTTCATGTTTTCCTTCTTGCCACCAGACGATGTGGATTGAACGGACCACGTATACGACTGCATATACCTTTCCTGGGATTCTCAAGTGGTTTGAAGTCAAACAGATTTCAACAGTGAGTCATTTGAAATTGGCATTTAGAAAAAAACTT control NA NA NA NA NA 369 191 0 0 0 0.804771522538623 0.94319398114773 0.9290442273959 0.846487802549456 NA NA -0.9290442273959 -0.846487802549456 0.873982751843177 0.887766014972678 NA -0.887766014972678 NA TRUE NA NA NA NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003574698 NA NA NA NA NA NA NA 0.00134268610814527 FALSE NA ENSE00001331820_000 ENSE00001331820 000 8 25237776 25237945 + 45 90 35 NA NA NA NA NA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 NA NA NA NA NA NA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA natural 10 10 0.996604877907867 0.989104905151956 0.992854891529911 1014 1374 0.882491433830517 0.987316754493342 0.934904094161929 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 0 0 0 0 0.992854891529911 0.934904094161929 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003568274 NA NA NA NA NA NA NA 0.00134268610814527 FALSE NA ENSE00001331820_001 ENSE00001331820 001 8 25237776 25237945 + 45 90 35 C T 25237792 397 17 ACTGCCTTGTTCTCCATTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380275 25380276 25380276 upstr_intron -29 -0.622222222222222 ACTGCCTTGTTCTCCATTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 77 465 1 1 1 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117508566169483 0.0126832455066584 0.992854891529911 0.934904094161929 NA 0.0650959058380707 NA FALSE NA 0 -0.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25380276 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 intron_variant 1.972479 0.20847 0.10474 0.062308 0.810173935634436 0.236263 0.00134268610814527 FALSE NA ENSE00001331820_002 ENSE00001331820 002 8 25237776 25237945 + 45 90 35 C A 25237792 398 17 ACTGCCTTGTTCTCCAATTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380275 25380276 25380276 upstr_intron -29 -0.622222222222222 ACTGCCTTGTTCTCCAATTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 120 306 1 1 1 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117508566169483 0.0126832455066584 0.992854891529911 0.934904094161929 NA 0.0650959058380707 NA FALSE NA 0 -0.657 NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003568274 intron_variant 2.100989 0.23621 0.14495 0.062308 0.819057775830042 0.236263 0.00134268610814527 FALSE NA ENSE00001331820_003 ENSE00001331820 003 8 25237776 25237945 + 45 90 35 T C 25237801 399 26 ACTGCCTTGTTCTCCACTTTTAACCCTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380284 25380285 25380285 upstr_intron -20 -0.422222222222222 ACTGCCTTGTTCTCCACTTTTAACCCTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 223 183 1 1 1 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117508566169483 0.0126832455066584 0.992854891529911 0.934904094161929 NA 0.0650959058380707 NA FALSE NA 0.002 0.327 rs11989035 intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 38/51 rs11989035 1 C:0.1941 C:0.329 C:0.1556 NA C:0.0188 C:0.1362 C:0.2791 C:0.2801 C:0.145 CTT C,C 0.156 8:25380285 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 intron_variant 1.617592 0.10045 0.00467 0.062308 0.855384989808745 0.295602 0.00134268610814527 FALSE 0.16016 ENSE00001331820_005 ENSE00001331820 005 8 25237776 25237945 + 45 90 35 C T 25237809 401 34 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCTTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380292 25380293 25380293 upstr_intron -12 -0.244444444444444 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCTTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 931 142 0.999557125564252 1 0.999778562782126 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117065691733734 0.0126832455066584 0.992854891529911 0.934904094161929 NA 0.0648744686201965 NA FALSE NA 0 -0.06 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 38/51 1 NA CCT C,T 3.296e-05 8:25380293 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 intron_variant 2.03986 0.2703 0.08348 0.062308 0.830312080305491 0.295602 0.00134268610814527 FALSE 2.16076e-05 ENSE00001331820_008 ENSE00001331820 008 8 25237776 25237945 + 45 90 35 T G 25237811 404 36 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTGTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380294 25380295 25380295 upstr_intron -10 -0.2 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTGTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 104 23 1 1 1 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117508566169483 0.0126832455066584 0.992854891529911 0.934904094161929 NA 0.0650959058380707 NA FALSE NA 0.039 0.423 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 38/51 1 NA TTT T,G 1.648e-05 8:25380295 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 intron_variant 1.830676 0.29787 0.30049 0.062308 0.78980568170231 0.799189 0.00134268610814527 FALSE 1.28464e-05 ENSE00001331820_011 ENSE00001331820 011 8 25237776 25237945 + 45 90 35 G A 25237869 407 94 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACAAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380352 25380353 25380353 exon -42 0.544444444444444 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACAAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 90 132 1 0.984096744559334 0.992048372279667 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117508566169483 -0.00322000993400706 0.992854891529911 0.934904094161929 NA 0.0571442781177379 NA FALSE NA 1 9.841 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 39/52 rs534293524 1 deleterious(0) benign(0.384) NA CGA G,A 8.237e-05 8:25380353 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 missense_variant 6.155302 0.99583 0.99555 0.615465 0.999292978360833 0 0.00134268610814527 FALSE 7.41717e-05 ENSE00001331820_012 ENSE00001331820 012 8 25237776 25237945 + 45 90 35 A C 25237877 408 102 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAACGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380360 25380361 25380361 exon -34 0.633333333333333 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAACGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 84 31 1 1 1 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117508566169483 0.0126832455066584 0.992854891529911 0.934904094161929 NA 0.0650959058380707 NA FALSE NA 1 2.68 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 39/52 1 deleterious(0) benign(0.071) NA AAG A,C 8.237e-06 8:25380361 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 missense_variant 3.404655 0.97487 0.88244 0.615465 0.996719549425089 0 0.00134268610814527 FALSE 4.12575e-06 ENSE00001331820_020 ENSE00001331820 020 8 25237776 25237945 + 45 90 35 A C 25237902 416 127 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCCACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380385 25380386 25380386 exon -9 0.911111111111111 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCCACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 41 485 1 0.988110452697479 0.994055226348739 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117508566169483 0.000793698204137439 0.992854891529911 0.934904094161929 NA 0.0591511321868102 NA FALSE NA 0.987 1.15 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 39/52 rs374629847 1 tolerated(0.07) benign(0.195) NA C:0 C:0.0001 CAA A,C 8.239e-06 8:25380386 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 missense_variant 1.71549 0.97305 0.88871 0.615465 0.972556118957802 0 0.00134268610814527 FALSE 1.69139e-05 ENSE00001331820_022 ENSE00001331820 022 8 25237776 25237945 + 45 90 35 G A 25237920 418 145 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGAGTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380403 25380404 25380404 downstr_intron 10 1.29411764705882 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGAGTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 814 35 0.999035436874475 1 0.999517718437237 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.116544003043958 0.0126832455066584 0.992854891529911 0.934904094161929 NA 0.064613624275308 NA FALSE NA 0.995 2.851 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 39/51 1 NA GGG G,A 3.297e-05 8:25380404 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 intron_variant 1.406636 0.36298 0.45562 0.062308 0.742609013731564 0.721604 0.00134268610814527 FALSE 5.29876e-05 ENSE00001331820_023 ENSE00001331820 023 8 25237776 25237945 + 45 90 35 G T 25237921 419 146 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGTTCAAAATATGTTAGGCCTCTGACA 25380259 25380429 25380404 25380405 25380405 downstr_intron 11 1.32352941176471 ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGTTCAAAATATGTTAGGCCTCTGACA ACTGCCTTGTTCTCCACTTTTAACCTTACTTTCCTTTTTCTGAAGATGTGGGAGAAGGCCATCAAGCTGAGCAAAGAGTTGGCTGAGACTTACGAAAGCAAAGTATTTGACTACGAGGGCCTTGGCAACCTCCTGGTGAGTCTGGGTCAAAATATGTTAGGCCTCTGACA mutant NA NA NA NA NA 626 12 0.999868445602054 0.955334777109474 0.977601611355764 0.996604877907867 0.989104905151956 0.882491433830517 0.987316754493342 NA NA 0.117377011771537 -0.0319819773838674 0.992854891529911 0.934904094161929 NA 0.0426975171938346 NA FALSE NA 0.92 1.271 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 39/51 1 NA GGT G,T 8.243e-06 8:25380405 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003568274 intron_variant 1.168811 0.33213 0.45861 0.062308 0.801014824192295 0.14022 0.00134268610814527 FALSE NA ENSE00001331887_000 ENSE00001331887 000 12 50062216 50062385 - 38 84 48 NA NA NA NA NA CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 NA NA NA NA NA NA CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG natural 132 118 0.984881585388399 0.991225597349484 0.988053591368941 4201 2297 0.954614337999169 0.950035474407999 0.952324906203584 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 0 0 0 0 0.988053591368941 0.952324906203584 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FMNL3 NA NA NA ENSG00000161791 ENSE00003540569 NA NA NA NA NA NA NA 0.356499503624211 FALSE NA ENSE00001331887_001 ENSE00001331887 001 12 50062216 50062385 - 38 84 48 C A 50062226 1448 160 CAACTCCCTAACTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668442 49668443 49668443 downstr_intron 28 1.75675675675676 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGTTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant 14 18 1 0.897217381524351 0.948608690762175 567 440 0.913725026802945 1 0.956862513401473 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 0.0151184146116015 -0.0940082158251335 -0.040889311196224 0.0499645255920015 0.988053591368941 0.952324906203584 -0.039444900606766 0.00453760719788876 0.0439825078046548 FALSE FALSE 0 -0.367 NA NA NA FMNL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:49668443 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 intron_variant 0.594068 0.17083 0.0071 0 0.754043164063866 0.0455939 0.356499503624211 FALSE 1.627e-05 ENSE00001331887_004 ENSE00001331887 004 12 50062216 50062385 - 38 84 48 T C 50062237 1451 149 CAACTCCCTACCTCCCTCCTCCTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668453 49668454 49668454 downstr_intron 17 1.45945945945946 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAGGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant 17 30 0.85 0.951912576909006 0.900956288454503 371 187 1 1 1 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 -0.134881585388399 -0.0393130204404784 0.0453856620008306 0.0499645255920015 0.988053591368941 0.952324906203584 -0.0870973029144385 0.047675093796416 0.134772396710855 FALSE FALSE 0 -0.671 . intron_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/3 rs541713628 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 CTT T,C 1.654e-05 12:49668454 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 intron_variant 0.997952 0.1897 0.00887 0.139865 0.693500013273181 0.0455939 0.356499503624211 FALSE 8.12896e-06 ENSE00001331887_005 ENSE00001331887 005 12 50062216 50062385 - 38 84 48 C T 50062249 1452 137 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCTATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668465 49668466 49668466 downstr_intron 5 1.13513513513514 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATAGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 80 123 0.987534326627929 0.984371281407939 0.985952804017934 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0329199886287598 0.0343358069999404 0.988053591368941 0.952324906203584 NA 0.0336278978143501 NA FALSE NA 0 0.396 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW FMNL3 HGNC 23698 ENST00000550970 1/3 rs555658680 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCA C,T 1.655e-05 12:49668466 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 splice_region_variant 1.79782 0.23712 0.02635 0.139865 0.772960168468384 0.332455 0.356499503624211 FALSE 8.12433e-06 ENSE00001331887_006 ENSE00001331887 006 12 50062216 50062385 - 38 84 48 G A 50062257 1453 129 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGATCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668473 49668474 49668474 exon -4 0.964285714285714 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGATCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 1590 459 0.999585140597451 0.994864935067206 0.997225037832329 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.044970802598282 0.0448294606592073 0.988053591368941 0.952324906203584 NA 0.0449001316287447 NA FALSE NA 1 1.474 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 1 NA GGT G,A 1.655e-05 12:49668474 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 synonymous_variant 1.063013 0.98142 0.84271 0.722319 0.579798638812051 0 0.356499503624211 FALSE 1.62467e-05 ENSE00001331887_007 ENSE00001331887 007 12 50062216 50062385 - 38 84 48 A G 50062260 1454 126 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCGCAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668476 49668477 49668477 exon -7 0.928571428571429 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGCGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 11 382 1 0.998491479652717 0.999245739826359 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0453856620008306 0.0484560052447187 0.988053591368941 0.952324906203584 NA 0.0469208336227747 NA FALSE NA 1 2.115 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 1 NA CAC A,G 8.273e-06 12:49668477 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 synonymous_variant 0.429227 0.98284 0.81466 0.722319 0.70082834998317 0 0.356499503624211 FALSE 4.06154e-06 ENSE00001331887_008 ENSE00001331887 008 12 50062216 50062385 - 38 84 48 G A 50062263 1455 123 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAAATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668479 49668480 49668480 exon -10 0.892857142857143 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATTTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 499 485 0.995906724926489 1 0.997953362463244 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0412923869273192 0.0499645255920015 0.988053591368941 0.952324906203584 NA 0.0456284562596603 NA FALSE NA 1 2.322 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 1 NA AGA G,A 5.792e-05 12:49668480 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 synonymous_variant 1.601016 0.98354 0.88775 0.722319 0.781744285111458 0 0.356499503624211 FALSE 3.65536e-05 ENSE00001331887_010 ENSE00001331887 010 12 50062216 50062385 - 38 84 48 T C 50062285 1457 101 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCACTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668501 49668502 49668502 exon -32 0.630952380952381 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAGTGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 23 568 1 0.996524072058449 0.998262036029225 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0453856620008306 0.0464885976504508 0.988053591368941 0.952324906203584 NA 0.0459371298256407 NA FALSE NA 1 4.788 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 1 NA ATT T,C 2.482e-05 12:49668502 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 missense_variant 3.96913 0.98745 0.92825 0.722319 0.998644927205947 0 0.356499503624211 FALSE 3.65521e-05 ENSE00001331887_011 ENSE00001331887 011 12 50062216 50062385 - 38 84 48 C T 50062289 1458 97 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTTATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668505 49668506 49668506 exon -36 0.583333333333333 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATAACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 457 37 0.974816871287918 1 0.987408435643959 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0202025332887485 0.0499645255920015 0.988053591368941 0.952324906203584 NA 0.035083529440375 NA FALSE NA 1 7.555 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 1 NA TCA C,T 3.31e-05 12:49668506 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 missense_variant 7.06887 0.99445 0.97602 0.722319 0.999290338229653 0 0.356499503624211 FALSE 2.43686e-05 ENSE00001331887_014 ENSE00001331887 014 12 50062216 50062385 - 38 84 48 C A 50062306 1461 80 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCAGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668522 49668523 49668523 exon 32 0.380952380952381 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCTGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 1030 674 0.994545334238816 0.993127878651104 0.99383660644496 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0399309962396464 0.0430924042431055 0.988053591368941 0.952324906203584 NA 0.0415117002413759 NA FALSE NA 1 5.796 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 rs201743403 1 NA CCG C,A 8.275e-06 12:49668523 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 missense_variant 7.412299 0.99111 0.96592 0.722319 0.998699797908843 0 0.356499503624211 FALSE 4.06161e-06 ENSE00001331887_017 ENSE00001331887 017 12 50062216 50062385 - 38 84 48 C T 50062323 1464 63 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGTAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668539 49668540 49668540 exon 15 0.178571428571429 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTACCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 828 1864 0.993251292952482 0.998938991456171 0.996095142204326 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0386369549533124 0.0489035170481724 0.988053591368941 0.952324906203584 NA 0.0437702360007424 NA FALSE NA 1 0.84 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 rs375626147 1 NA T:0.0003 T:0 GCA C,T 8.275e-06 12:49668540 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 synonymous_variant 1.688865 0.97068 0.74241 0.722319 0.660525434378802 0 0.356499503624211 FALSE 4.06177e-06 ENSE00001331887_018 ENSE00001331887 018 12 50062216 50062385 - 38 84 48 G A 50062325 1465 61 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAAGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668541 49668542 49668542 exon 13 0.154761904761905 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACTTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 710 748 0.992986019952697 1 0.996493009976348 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0383716819535272 0.0499645255920015 0.988053591368941 0.952324906203584 NA 0.0441681037727644 NA FALSE NA 1 4.37 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 1 NA AGG G,A 3.31e-05 12:49668542 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 synonymous_variant 1.011168 0.99099 0.94859 0.722319 0.715624735188171 0 0.356499503624211 FALSE 2.03092e-05 ENSE00001331887_020 ENSE00001331887 020 12 50062216 50062385 - 38 84 48 C T 50062336 1467 50 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGTTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668552 49668553 49668553 exon 2 0.0238095238095238 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAACTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant 12 17 1 0.985191581008339 0.99259579050417 337 1285 1 0.99987690479759 0.999938452398795 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 0.0151184146116015 -0.00603401634114464 0.0453856620008306 0.0498414303895914 0.988053591368941 0.952324906203584 0.00454219913522841 0.047613546195211 0.0430713470599826 FALSE FALSE 1 1.798 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1/4 rs373894825 1 T:0.0016 T:0 T:0 NA T:0 T:0 T:0.0082 GCT C,T 0.000786 12:49668553 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 missense_variant 3.205115 0.98416 0.74201 0.722319 0.288812383682892 0 0.356499503624211 FALSE 0.000763687 ENSE00001331887_021 ENSE00001331887 021 12 50062216 50062385 - 38 84 48 G A 50062340 1468 46 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTAAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 49668556 49668557 49668557 upstr_intron -3 -0.0416666666666667 CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTTAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 149 151 0.953757862019045 0.996391656376381 0.975074759197713 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA -0.000856475980124172 0.0463561819683826 0.988053591368941 0.952324906203584 NA 0.0227498529941292 NA FALSE NA 1 5.488 . upstream_gene_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1 NA TGA G,A 8.274e-06 12:49668557 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 splice_region_variant 1.893599 0.98631 0.9509 0 0.949857707860713 0.86047 0.356499503624211 FALSE NA ENSE00001331887_022 ENSE00001331887 022 12 50062216 50062385 - 38 84 48 C A 50062372 1469 14 CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATACCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTCTGAGGAGAGAACCTGAGTCAACAAGGCTGAAACATCCCCTCATCTGG 49668432 49668602 49668588 49668589 49668589 upstr_intron -35 -0.708333333333333 CCAGATGAGGGGATGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG mutant NA NA NA NA NA 60 185 0.971643462119523 1 0.985821731059761 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA 0.0170291241203533 0.0499645255920015 0.988053591368941 0.952324906203584 NA 0.0334968248561774 NA FALSE NA 0 -0.179 . upstream_gene_variant MODIFIER FMNL3 HGNC 23698 ENST00000550970 1 NA CCT C,A 4.963e-05 12:49668589 FMNL3 HGNC Symbol protein_coding 71666 ENSG00000161791 ENSE00003540569 intron_variant 1.205755 0.30803 0.19597 0.048788 0.743360509910832 0.539121 0.356499503624211 FALSE 5.3008e-05 ENSE00001331887_BRK ENSE00001331887 BRK 12 50062216 50062385 - 38 84 48 A,G; T,T NA NA NA CAACTCCCTACCTCCCTCCTCTTTCCCAAACCCCATGGCTGGTCACAGATCAGATCCCATTTCTTCTCATTGTCATACTGCCGCAGGAGCCGGGCCTTGTCTGGAGGCAGGTTCATGGAGCTAAGAGGAGAGAACCTGAGTCAACAAGGCTGAAACCTCCCCTCATCTGG 49668432 49668602 NA NA NA NA NA NA CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCTTAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGCCATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG CCAGATGAGGGGAGGTTTCAGCCTTGTTGACTCAGGTTCTCTCCTCAGAGCTCCATGAACCTGCCTCCAGACAAGGCCCGGCTCCTGCGGCAGTATGACAATGAGAAGAAATGGGATCTGATCTGTGACCAGGTATGGGGTTTGGGAAAGAGGAGGGAGGTAGGGAGTTG control NA NA NA NA NA 32 88 0 0.142828891190038 0.071414445595019 0.984881585388399 0.991225597349484 0.954614337999169 0.950035474407999 NA NA -0.954614337999169 -0.80720658321796 0.988053591368941 0.952324906203584 NA -0.880910460608565 NA TRUE NA NA NA NA NA NA FMNL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FMNL3 NA NA NA ENSG00000161791 ENSE00003540569 NA NA NA NA NA NA NA 0.356499503624211 FALSE NA ENSE00001332335_000 ENSE00001332335 000 22 30731412 30731581 - 44 72 54 NA NA NA NA NA CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC 30335422 30335592 NA NA NA NA NA NA CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC natural 24 16 0.975172453956627 0.999281241680324 0.987226847818475 679 1723 0.99476942574415 0.987689828140658 0.991229626942404 0.975172453956627 0.999281241680324 0.99476942574415 0.987689828140658 0 0 0 0 0.987226847818475 0.991229626942404 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SF3A1 NA NA NA ENSG00000099995 ENSE00001332335 NA NA NA NA NA NA NA 0.994075395519488 TRUE NA ENSE00001332335_002 ENSE00001332335 002 22 30731412 30731581 - 44 72 54 C A 30731422 463 160 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGTTCCTGACACC 30335422 30335592 30335432 30335433 30335433 downstr_intron 34 1.7906976744186 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGTTCCTGACACC CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC mutant NA NA NA NA NA 15 31 0.8 1 0.9 0.975172453956627 0.999281241680324 0.99476942574415 0.987689828140658 NA NA -0.19476942574415 0.0123101718593421 0.987226847818475 0.991229626942404 NA -0.0912296269424039 NA FALSE NA 0 0.042 NA NA NA SF3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:30335433 SF3A1 HGNC Symbol protein_coding 24959 ENSG00000099995 ENSE00001332335 intron_variant 0.856687 0.41106 0.17484 0.283894 0.760185386705236 0.19633 0.994075395519488 TRUE 4.06858e-06 ENSE00001332335_003 ENSE00001332335 003 22 30731412 30731581 - 44 72 54 G A 30731428 464 154 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCTCTTGGGTCCTGACACC 30335422 30335592 30335438 30335439 30335439 downstr_intron 28 1.65116279069767 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCTCTTGGGTCCTGACACC CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC mutant NA NA NA NA NA 154 37 0.973065498775632 1 0.986532749387816 0.975172453956627 0.999281241680324 0.99476942574415 0.987689828140658 NA NA -0.0217039269685183 0.0123101718593421 0.987226847818475 0.991229626942404 NA -0.00469687755458809 NA FALSE NA 0 0.027 . intron_variant MODIFIER SF3A1 HGNC 10765 ENST00000215793 15/15 1 NA GGG G,A 8.236e-06 22:30335439 SF3A1 HGNC Symbol protein_coding 24959 ENSG00000099995 ENSE00001332335 intron_variant 0.89088 0.198 0.17167 0.283894 0.655573929180328 0.19633 0.994075395519488 TRUE 1.62594e-05 ENSE00001332335_004 ENSE00001332335 004 22 30731412 30731581 - 44 72 54 G T 30731434 465 148 GGTGTCAGGACCCAAGGGACAGTTCTGTGGACAAACTGACTCACCTCATACTGTAGCTTCTGTTTCCCTGCAGGCATGCCTGTGGCTTCATGAATCTTCACCTTAATGACAGAGACCTGTGGGATCAAGCAGCGGTCATTCAACTCCTTGGTAAGGCCAGCTAGAGGAAG 30335422 30335592 30335444 30335445 30335445 downstr_intron 22 1.51162790697674 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGAACTGTCCCTTGGGTCCTGACACC CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC mutant NA NA NA NA NA 353 512 0.994021086538899 0.999307001270603 0.996664043904751 0.975172453956627 0.999281241680324 0.99476942574415 0.987689828140658 NA NA -0.000748339205251303 0.0116171731299453 0.987226847818475 0.991229626942404 NA 0.00543441696234698 NA FALSE NA 0 0.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:30335445 SF3A1 HGNC Symbol protein_coding 24959 ENSG00000099995 ENSE00001332335 intron_variant 0.711811 0.42261 0.17698 0.283894 0.848551964877016 0.109697 0.994075395519488 TRUE 8.12599e-06 ENSE00001332335_005 ENSE00001332335 005 22 30731412 30731581 - 44 72 54 G C 30731434 466 148 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGAGCTGTCCCTTGGGTCCTGACACC 30335422 30335592 30335444 30335445 30335445 downstr_intron 22 1.51162790697674 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGAGCTGTCCCTTGGGTCCTGACACC CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC mutant NA NA NA NA NA 62 448 1 0.989114694578593 0.994557347289296 0.975172453956627 0.999281241680324 0.99476942574415 0.987689828140658 NA NA 0.00523057425585005 0.00142486643793505 0.987226847818475 0.991229626942404 NA 0.00332772034689255 NA FALSE NA 0 0.016 NA NA NA SF3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SF3A1 NA NA NA ENSG00000099995 ENSE00001332335 intron_variant 0.590535 0.41216 0.26339 0.283894 0.826297828379425 0.109697 0.994075395519488 TRUE 0 ENSE00001332335_006 ENSE00001332335 006 22 30731412 30731581 - 44 72 54 G A 30731440 467 142 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCTACAGACCTGTCCCTTGGGTCCTGACACC 30335422 30335592 30335450 30335451 30335451 downstr_intron 16 1.37209302325581 CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCTACAGACCTGTCCCTTGGGTCCTGACACC CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC mutant NA NA NA NA NA 635 538 0.978438243718658 0.998066920545863 0.98825258213226 0.975172453956627 0.999281241680324 0.99476942574415 0.987689828140658 NA NA -0.0163311820254921 0.010377092405205 0.987226847818475 0.991229626942404 NA -0.00297704481014355 NA FALSE NA 0 -0.446 . intron_variant MODIFIER SF3A1 HGNC 10765 ENST00000215793 15/15 1 NA TGG G,A 8.236e-06 22:30335451 SF3A1 HGNC Symbol protein_coding 24959 ENSG00000099995 ENSE00001332335 intron_variant 1.261703 0.17886 0.07507 0.283894 0.685190686290692 0.109697 0.994075395519488 TRUE 4.06237e-06 ENSE00001332335_013 ENSE00001332335 013 22 30731412 30731581 - 44 72 54 T C 30731559 474 23 CTTCCTCTAGCTGGCCTTACCAGGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC 30335422 30335592 30335569 30335570 30335570 upstr_intron -32 -0.574074074074074 CTTCCTCTAGCTGGCCTTACCAGGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC CTTCCTCTAGCTGGCCTTACCAAGGAGTTGAATGACCGCTGCTTGATCCCACAGGTCTCTGTCATTAAGGTGAAGATTCATGAAGCCACAGGCATGCCTGCAGGGAAACAGAAGCTACAGTATGAGGTGAGTCAGTTTGTCCACAGACCTGTCCCTTGGGTCCTGACACC mutant NA NA NA NA NA 294 96 1 1 1 0.975172453956627 0.999281241680324 0.99476942574415 0.987689828140658 NA NA 0.00523057425585005 0.0123101718593421 0.987226847818475 0.991229626942404 NA 0.00877037305759609 NA FALSE NA 0 -0.022 . intron_variant MODIFIER SF3A1 HGNC 10765 ENST00000215793 14/15 1 NA CTT T,C 1.647e-05 22:30335570 SF3A1 HGNC Symbol protein_coding 24959 ENSG00000099995 ENSE00001332335 intron_variant 0.394853 0.29337 0.22837 0.075938 0.602053707194177 0.615609 0.994075395519488 TRUE 1.21834e-05 ENSE00001332369_000 ENSE00001332369 000 21 47541411 47541580 + 59 63 48 NA NA NA NA NA CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG 46121496 46121666 NA NA NA NA NA NA CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG natural 43 51 0.996840131518928 0.982467172580507 0.989653652049717 924 492 0.999955453320512 1 0.999977726660256 0.996840131518928 0.982467172580507 0.999955453320512 1 0 0 0 0 0.989653652049717 0.999977726660256 0 0 0 FALSE FALSE NA NA NA NA NA COL6A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A2 NA NA NA ENSG00000142173 ENSE00001332369 NA NA NA NA NA NA NA 0.00213375739441823 FALSE NA ENSE00001332369_009 ENSE00001332369 009 21 47541411 47541580 + 59 63 48 C T 47541474 477 64 CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATTTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG 46121496 46121666 46121559 46121560 46121560 exon 5 0.0793650793650794 CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATTTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG mutant NA NA NA NA NA 127 150 0.997709371684158 0.832876346819154 0.915292859251656 0.996840131518928 0.982467172580507 0.999955453320512 1 NA NA -0.00224608163635431 -0.167123653180846 0.989653652049717 0.999977726660256 NA -0.0846848674086002 NA FALSE NA 0.995 3.111 . missense_variant MODERATE COL6A2 HGNC 2212 ENST00000413758 3/11 COSM388513&COSM1031520&COSM388515&COSM1031522&COSM1031521&COSM388514 1 tolerated(0.09) possibly_damaging(0.683) NA TCT C,T 8.259e-06 21:46121560 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001332369 missense_variant 5.275655 0.98299 0.83181 0.695654 0.99685146515992 0 0.00213375739441823 FALSE 4.07458e-06 ENSE00001332369_010 ENSE00001332369 010 21 47541411 47541580 + 59 63 48 C T 47541476 478 66 CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTTGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG 46121496 46121666 46121561 46121562 46121562 exon 7 0.111111111111111 CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTTGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG mutant NA NA NA NA NA 374 13 0.956500790777832 0.987635480263743 0.972068135520788 0.996840131518928 0.982467172580507 0.999955453320512 1 NA NA -0.0434546625426802 -0.0123645197362567 0.989653652049717 0.999977726660256 NA -0.0279095911394684 NA FALSE NA 0.055 0.208 . missense_variant MODERATE COL6A2 HGNC 2212 ENST00000413758 3/11 COSM1682067&COSM1682069&COSM1682068 1 deleterious(0) possibly_damaging(0.835) NA TCG C,T 1.652e-05 21:46121562 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001332369 missense_variant 7.437694 0.96598 0.12286 0.695654 0.999083445403977 0 0.00213375739441823 FALSE 1.63006e-05 ENSE00001332369_024 ENSE00001332369 024 21 47541411 47541580 + 59 63 48 C T 47541529 492 119 CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCTAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG 46121496 46121666 46121614 46121615 46121615 exon -4 0.952380952380952 CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCTAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG mutant NA NA NA NA NA 20 14 0.967849040856637 1 0.983924520428318 0.996840131518928 0.982467172580507 0.999955453320512 1 NA NA -0.0321064124638758 0 0.989653652049717 0.999977726660256 NA -0.0160532062319379 NA FALSE NA 0.84 -0.002 . synonymous_variant LOW COL6A2 HGNC 2212 ENST00000413758 3/11 1 NA CCA C,T 1.654e-05 21:46121615 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001332369 synonymous_variant 1.585959 0.96817 0.70686 0.695654 0.671236402539868 0 0.00213375739441823 FALSE 1.63236e-05 ENSE00001332369_041 ENSE00001332369 041 21 47541411 47541580 + 59 63 48 C T 47541570 509 160 CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTTGGGGCAGCTG 46121496 46121666 46121655 46121656 46121656 downstr_intron 38 1.80851063829787 CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTTGGGGCAGCTG CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG mutant NA NA NA NA NA 14 32 1 1 1 0.996840131518928 0.982467172580507 0.999955453320512 1 NA NA 4.45466794875005e-05 0 0.989653652049717 0.999977726660256 NA 2.22733397437502e-05 NA FALSE NA 0 -1.03 NA NA NA COL6A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:46121656 COL6A2 HGNC Symbol protein_coding 34752 ENSG00000142173 ENSE00001332369 intron_variant 0.187746 0.11594 0.00989 0.055982 0.728848082010955 0.0476976 0.00213375739441823 FALSE 4.1691e-05 ENSE00001332369_BRK ENSE00001332369 BRK 21 47541411 47541580 + 59 63 48 A,G; T,T NA NA NA CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCTTGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGCCACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG 46121496 46121666 NA NA NA NA NA NA CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCTTGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGCCACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG CCCCTGGGCATGGCCAGTCCCTGCCTGTGCTGACTTCTGAATTTCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGACTCAGGACAGCCAGGCCCCAAGGTACGTGCCCCTCCCCCAGCAGGACGTATTAGGGGTTCGGGGCAGCTG control 15 10 0 0 0 NA NA NA NA NA 0.996840131518928 0.982467172580507 0.999955453320512 1 -0.996840131518928 -0.982467172580507 NA NA 0.989653652049717 0.999977726660256 -0.989653652049717 NA NA NA TRUE NA NA NA NA NA COL6A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A2 NA NA NA ENSG00000142173 ENSE00001332369 NA NA NA NA NA NA NA 0.00213375739441823 FALSE NA ENSE00001334938_000 ENSE00001334938 000 13 114774822 114774991 - 41 78 51 NA NA NA NA NA GTGAGCCGAGGTACTTCGGGCTGTCCTCGAGTGATCTCCGTTTCATTTTAGGCGAGTTTTAAGGAGTCCTACATGGCTACATTTTATGAATTCTTCAATGAGCAGAAATATGCTGATGCGGTGAAGAACGTAAGTATCGACTCACCCTCCGACCGCCCGTGTGCCGTGCT 114009345 114009515 NA NA NA NA NA NA GTGAGCCGAGGTACTTCGGGCTGTCCTCGAGTGATCTCCGTTTCATTTTAGGCGAGTTTTAAGGAGTCCTACATGGCTACATTTTATGAATTCTTCAATGAGCAGAAATATGCTGATGCGGTGAAGAACGTAAGTATCGACTCACCCTCCGACCGCCCGTGTGCCGTGCT GTGAGCCGAGGTACTTCGGGCTGTCCTCGAGTGATCTCCGTTTCATTTTAGGCGAGTTTTAAGGAGTCCTACATGGCTACATTTTATGAATTCTTCAATGAGCAGAAATATGCTGATGCGGTGAAGAACGTAAGTATCGACTCACCCTCCGACCGCCCGTGTGCCGTGCT natural 976 1103 0.842097289482702 0.850986208309021 0.846541748895862 1399 1661 0.836132842137216 0.837748041265869 0.836940441701542 0.842097289482702 0.850986208309021 0.836132842137216 0.837748041265869 0 0 0 0 0.846541748895862 0.836940441701542 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001334938 NA NA NA NA NA NA NA 9.99009541070118e-18 FALSE NA ENSE00001334938_BRK ENSE00001334938 BRK 13 114774822 114774991 - 41 78 51 A,G; T,T NA NA NA GTGAGCCGAGGTACTTCGGGCTGTCCTCGAGTGATCTCCGTTTCATTTTTTGCGAGTTTTAAGGAGTCCTACATGGCTACATTTTATGAATTCTTCAATGAGCAGAAATATGCTGATGCGGTGAAGAACCCAAGTATCGACTCACCCTCCGACCGCCCGTGTGCCGTGCT 114009345 114009515 NA NA NA NA NA NA GTGAGCCGAGGTACTTCGGGCTGTCCTCGAGTGATCTCCGTTTCATTTTTTGCGAGTTTTAAGGAGTCCTACATGGCTACATTTTATGAATTCTTCAATGAGCAGAAATATGCTGATGCGGTGAAGAACCCAAGTATCGACTCACCCTCCGACCGCCCGTGTGCCGTGCT GTGAGCCGAGGTACTTCGGGCTGTCCTCGAGTGATCTCCGTTTCATTTTAGGCGAGTTTTAAGGAGTCCTACATGGCTACATTTTATGAATTCTTCAATGAGCAGAAATATGCTGATGCGGTGAAGAACGTAAGTATCGACTCACCCTCCGACCGCCCGTGTGCCGTGCT control 11 90 0 0 0 1062 78 0 0.00413049313230354 0.00206524656615177 0.842097289482702 0.850986208309021 0.836132842137216 0.837748041265869 -0.842097289482702 -0.850986208309021 -0.836132842137216 -0.833617548133565 0.846541748895862 0.836940441701542 -0.846541748895862 -0.834875195135391 0.0116665537604712 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00001334938 NA NA NA NA NA NA NA NA NA NA ENSE00001334940_000 ENSE00001334940 000 13 114776606 114776775 - 41 78 51 NA NA NA NA NA ACAGCATTTCTGTGATGCTGACATAGACCTTTCTTGCTCCCGCCTCCCCAGGACCCCCAGACGTCCAGGACGCTGACATTGATCTCCAAGACCGTTCAGACCCTCGGCAGCCTGTCCAAGTCCAAATCTGTGAGTCCCTCTTCTTCATTTTCTCTTTTTAGGGACAACTG 114011129 114011299 NA NA NA NA NA NA ACAGCATTTCTGTGATGCTGACATAGACCTTTCTTGCTCCCGCCTCCCCAGGACCCCCAGACGTCCAGGACGCTGACATTGATCTCCAAGACCGTTCAGACCCTCGGCAGCCTGTCCAAGTCCAAATCTGTGAGTCCCTCTTCTTCATTTTCTCTTTTTAGGGACAACTG ACAGCATTTCTGTGATGCTGACATAGACCTTTCTTGCTCCCGCCTCCCCAGGACCCCCAGACGTCCAGGACGCTGACATTGATCTCCAAGACCGTTCAGACCCTCGGCAGCCTGTCCAAGTCCAAATCTGTGAGTCCCTCTTCTTCATTTTCTCTTTTTAGGGACAACTG natural 19 19 0.95427830216071 0.980069714576717 0.967174008368713 2646 3258 0.978396813963985 0.938397502255031 0.958397158109508 0.95427830216071 0.980069714576717 0.978396813963985 0.938397502255031 0 0 0 0 0.967174008368713 0.958397158109508 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001334940 NA NA NA NA NA NA NA 0.00856580592851277 FALSE NA ENSE00001334940_BRK ENSE00001334940 BRK 13 114776606 114776775 - 41 78 51 A,G; T,T NA NA NA ACAGCATTTCTGTGATGCTGACATAGACCTTTCTTGCTCCCGCCTCCCCTTGACCCCCAGACGTCCAGGACGCTGACATTGATCTCCAAGACCGTTCAGACCCTCGGCAGCCTGTCCAAGTCCAAATCTCCGAGTCCCTCTTCTTCATTTTCTCTTTTTAGGGACAACTG 114011129 114011299 NA NA NA NA NA NA ACAGCATTTCTGTGATGCTGACATAGACCTTTCTTGCTCCCGCCTCCCCTTGACCCCCAGACGTCCAGGACGCTGACATTGATCTCCAAGACCGTTCAGACCCTCGGCAGCCTGTCCAAGTCCAAATCTCCGAGTCCCTCTTCTTCATTTTCTCTTTTTAGGGACAACTG ACAGCATTTCTGTGATGCTGACATAGACCTTTCTTGCTCCCGCCTCCCCAGGACCCCCAGACGTCCAGGACGCTGACATTGATCTCCAAGACCGTTCAGACCCTCGGCAGCCTGTCCAAGTCCAAATCTGTGAGTCCCTCTTCTTCATTTTCTCTTTTTAGGGACAACTG control 116 56 0 0 0 222 818 0 0.0671243903904316 0.0335621951952158 0.95427830216071 0.980069714576717 0.978396813963985 0.938397502255031 -0.95427830216071 -0.980069714576717 -0.978396813963985 -0.8712731118646 0.967174008368713 0.958397158109508 -0.967174008368713 -0.924834962914292 0.0423390454544212 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001334940 NA NA NA NA NA NA NA 0.994933031618259 TRUE NA ENSE00001334944_000 ENSE00001334944 000 13 114781631 114781800 - 42 75 53 NA NA NA NA NA AAGCAGGTGACTGGCTTTGGTTGGTTCATGAACAAAACCTACCATGTTGTTTTCAAGGTTTTCTCCGTCTTTCAACTTCACAGGGTCGATTTCACAGGGTTTGTGGCTCTGGCATATCTGGGGAGAGGTTTAAGACAGGGCTCTGTGAGTGGGTTCTGGGGGCACAGGCA 114016154 114016324 NA NA NA NA NA NA TGCCTGTGCCCCCAGAACCCACTCACAGAGCCCTGTCTTAAACCTCTCCCCAGATATGCCAGAGCCACAAACCCTGTGAAATCGACCCTGTGAAGTTGAAAGACGGAGAAAACCTTGAAAACAACATGGTAGGTTTTGTTCATGAACCAACCAAAGCCAGTCACCTGCTT TGCCTGTGCCCCCAGAACCCACTCACAGAGCCCTGTCTTAAACCTCTCCCCAGATATGCCAGAGCCACAAACCCTGTGAAATCGACCCTGTGAAGTTGAAAGACGGAGAAAACCTTGAAAACAACATGGTAGGTTTTGTTCATGAACCAACCAAAGCCAGTCACCTGCTT natural 59 78 0.995820618035341 0.995819609545185 0.995820113790263 1298 1293 0.906454340406989 0.991186871124566 0.948820605765777 0.995820618035341 0.995819609545185 0.906454340406989 0.991186871124566 0 0 0 0 0.995820113790263 0.948820605765777 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001334944 NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00001334944_BRK ENSE00001334944 BRK 13 114781631 114781800 - 42 75 53 A,G; T,T NA NA NA AAGCAGGTGACTGGCTTTGGTTGGTTCATGAACAAAACCTGGCATGTTGTTTTCAAGGTTTTCTCCGTCTTTCAACTTCACAGGGTCGATTTCACAGGGTTTGTGGCTCTGGCATATAAGGGGAGAGGTTTAAGACAGGGCTCTGTGAGTGGGTTCTGGGGGCACAGGCA 114016154 114016324 NA NA NA NA NA NA TGCCTGTGCCCCCAGAACCCACTCACAGAGCCCTGTCTTAAACCTCTCCCCTTATATGCCAGAGCCACAAACCCTGTGAAATCGACCCTGTGAAGTTGAAAGACGGAGAAAACCTTGAAAACAACATGCCAGGTTTTGTTCATGAACCAACCAAAGCCAGTCACCTGCTT TGCCTGTGCCCCCAGAACCCACTCACAGAGCCCTGTCTTAAACCTCTCCCCAGATATGCCAGAGCCACAAACCCTGTGAAATCGACCCTGTGAAGTTGAAAGACGGAGAAAACCTTGAAAACAACATGGTAGGTTTTGTTCATGAACCAACCAAAGCCAGTCACCTGCTT control 21 37 0 0.187650755071879 0.0938253775359396 NA NA NA NA NA 0.995820618035341 0.995819609545185 0.906454340406989 0.991186871124566 -0.995820618035341 -0.808168854473306 NA NA 0.995820113790263 0.948820605765777 -0.901994736254324 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001334944 NA NA NA NA NA NA NA 4.67636131494537e-13 FALSE NA ENSE00001335484_000 ENSE00001335484 000 7 94044470 94044639 + 68 45 57 NA NA NA NA NA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA 94415157 94415327 NA NA NA NA NA NA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA natural NA NA NA NA NA 724 2582 0.999601427624749 0.856507761958233 0.928054594791491 NA NA 0.999601427624749 0.856507761958233 NA NA 0 0 NA 0.928054594791491 NA 0 NA FALSE NA NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003564746 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001335484_002 ENSE00001335484 002 7 94044470 94044639 + 68 45 57 A G 94044499 1798 30 TATTTTAATCATAAGTGAATTTAGAGATCGCACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA 94415157 94415327 94415186 94415187 94415187 upstr_intron -39 -0.558823529411765 TATTTTAATCATAAGTGAATTTAGAGATCGCACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA mutant NA NA NA NA NA 236 396 1 1 1 NA NA 0.999601427624749 0.856507761958233 NA NA 0.000398572375250872 0.143492238041767 NA 0.928054594791491 NA 0.0719454052085088 NA FALSE NA 0.001 0.518 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/4 1 NA CAC A,G 8.236e-06 7:94415187 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003564746 intron_variant 0.327951 0.19658 0.13412 0.088506 0.703777451742892 0.0973818 0.99975494444276 TRUE 4.0625e-06 ENSE00001335484_009 ENSE00001335484 009 7 94044470 94044639 + 68 45 57 A G 94044545 1805 76 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCGTGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA 94415157 94415327 94415232 94415233 94415233 exon 8 0.177777777777778 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCGTGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA mutant NA NA NA NA NA 505 48 1 1 1 NA NA 0.999601427624749 0.856507761958233 NA NA 0.000398572375250872 0.143492238041767 NA 0.928054594791491 NA 0.0719454052085088 NA FALSE NA 0.805 0.874 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 4/5 rs368676099 1 NA C:0.0002 C:0 CAT A,G 1.647e-05 7:94415233 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003564746 missense_variant 0.531928 0.92702 0.69777 0.732398 0.658210180252237 0 0.99975494444276 TRUE 1.21844e-05 ENSE00001335484_012 ENSE00001335484 012 7 94044470 94044639 + 68 45 57 A G 94044579 1808 110 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCGAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA 94415157 94415327 94415266 94415267 94415267 exon -4 0.933333333333333 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCGAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA mutant NA NA NA NA NA 264 111 0.996828153422117 0.964964555650824 0.98089635453647 NA NA 0.999601427624749 0.856507761958233 NA NA -0.00277327420263229 0.108456793692591 NA 0.928054594791491 NA 0.0528417597449791 NA FALSE NA 0.952 0.743 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 4/5 1 NA CAA A,G 2.471e-05 7:94415267 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003564746 synonymous_variant 0.228154 0.91261 0.86908 0.732398 0.680509545505269 0 0.99975494444276 TRUE 1.62468e-05 ENSE00001335484_014 ENSE00001335484 014 7 94044470 94044639 + 68 45 57 T G 94044595 1810 126 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTGCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA 94415157 94415327 94415282 94415283 94415283 downstr_intron 13 1.23214285714286 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTGCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA mutant NA NA NA NA NA 252 125 0.993278978749623 0.975802129283067 0.984540554016345 NA NA 0.999601427624749 0.856507761958233 NA NA -0.00632244887512567 0.119294367324834 NA 0.928054594791491 NA 0.056485959224854 NA FALSE NA 0.139 3.623 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 4/4 1 NA TTC T,G 2.471e-05 7:94415283 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003564746 intron_variant 0.215691 0.24354 0.66872 0.088506 0.387509989450648 0.14028 0.99975494444276 TRUE 5.68671e-05 ENSE00001335484_016 ENSE00001335484 016 7 94044470 94044639 + 68 45 57 C G 94044614 1812 145 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTGTGGCAATGTGTTTTTAAAAGTAGTA 94415157 94415327 94415301 94415302 94415302 downstr_intron 32 1.57142857142857 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTGTGGCAATGTGTTTTTAAAAGTAGTA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA mutant NA NA NA NA NA 387 203 0.996107727515031 0.996552499615599 0.996330113565315 NA NA 0.999601427624749 0.856507761958233 NA NA -0.00349370010971806 0.140044737657366 NA 0.928054594791491 NA 0.0682755187738241 NA FALSE NA 0.001 0.026 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 4/4 1 NA TCT C,G 8.236e-06 7:94415302 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003564746 intron_variant 0.030426 0.20819 0.19756 0.088506 0.3136666831755 0.119696 0.99975494444276 TRUE 4.06243e-06 ENSE00001335484_017 ENSE00001335484 017 7 94044470 94044639 + 68 45 57 T C 94044621 1813 152 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAACGTGTTTTTAAAAGTAGTA 94415157 94415327 94415308 94415309 94415309 downstr_intron 39 1.69642857142857 TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAACGTGTTTTTAAAAGTAGTA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA mutant NA NA NA NA NA 48 342 1 0.971196767093305 0.985598383546652 NA NA 0.999601427624749 0.856507761958233 NA NA 0.000398572375250872 0.114689005135072 NA 0.928054594791491 NA 0.0575437887551612 NA FALSE NA 0.001 0.419 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 4/4 1 NA ATG T,C 8.236e-06 7:94415309 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003564746 intron_variant -0.048064 0.25274 0.20808 0.088506 0.675035963423272 0.119696 0.99975494444276 TRUE 4.06289e-06 ENSE00001335484_BRK ENSE00001335484 BRK 7 94044470 94044639 + 68 45 57 A,G; T,T NA NA NA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTTTGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGACCAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA 94415157 94415327 NA NA NA NA NA NA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTTTGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGACCAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA TATTTTAATCATAAGTGAATTTAGAGATCACACACAGATTTCATGCTTTATTCTCATGTTTTGTCTAGGGTCTCCATGGTGAGTTTGGTCTCCCTGGTCCTGCTGGTCCAAGAGTAAGTGTTACTTCATTAACTTTCATAAACTCTGGCAATGTGTTTTTAAAAGTAGTA control NA NA NA NA NA 162 107 0.111204369691675 0 0.0556021848458373 NA NA 0.999601427624749 0.856507761958233 NA NA -0.888397057933075 -0.856507761958233 NA 0.928054594791491 NA -0.872452409945654 NA TRUE NA NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003564746 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001335500_000 ENSE00001335500 000 7 94043471 94043640 + 63 54 53 NA NA NA NA NA ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 NA NA NA NA NA NA ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC natural 28 19 0.979438400780372 0.981248484058834 0.980343442419603 8925 11317 0.885486167878398 0.996181216154719 0.940833692016559 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 0 0 0 0 0.980343442419603 0.940833692016559 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003608938 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001335500_001 ENSE00001335500 001 7 94043471 94043640 + 63 54 53 T C 94043488 1774 18 ATTATTAGCAAATCTCCCGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414175 94414176 94414176 upstr_intron -46 -0.714285714285714 ATTATTAGCAAATCTCCCGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 487 1053 0.999915465693928 1 0.999957732846964 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.11442929781553 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0591240408304052 NA FALSE NA 0 0.594 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 2/4 rs369294580 1 NA C:0 C:0.0001 CTG T,C 2.471e-05 7:94414176 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.440737 0.26568 0.17031 0.088506 0.624345657942097 0.0947479 0.99975494444276 TRUE 7.32565e-05 ENSE00001335500_002 ENSE00001335500 002 7 94043471 94043640 + 63 54 53 C A 94043492 1775 22 ATTATTAGCAAATCTCCTGAAAGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414179 94414180 94414180 upstr_intron -42 -0.650793650793651 ATTATTAGCAAATCTCCTGAAAGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 1222 56 0.822118646833771 1 0.911059323416886 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA -0.0633675210446266 0.00381878384528056 0.980343442419603 0.940833692016559 NA -0.029774368599673 NA FALSE NA 0 0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94414180 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.46482 0.21747 0.12699 0.088506 0.721836865996588 0.0947479 0.99975494444276 TRUE 1.22046e-05 ENSE00001335500_003 ENSE00001335500 003 7 94043471 94043640 + 63 54 53 C T 94043492 1776 22 ATTATTAGCAAATCTCCTGAATGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414179 94414180 94414180 upstr_intron -42 -0.650793650793651 ATTATTAGCAAATCTCCTGAATGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 297 1194 0.99844848218419 0.999520462376772 0.998984472280481 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.112962314305792 0.00333924622205206 0.980343442419603 0.940833692016559 NA 0.0581507802639219 NA FALSE NA 0 0.047 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003608938 intron_variant 0.3724 0.14583 0.0059 0.088506 0.708795045028724 0.0947479 0.99975494444276 TRUE 1.22046e-05 ENSE00001335500_004 ENSE00001335500 004 7 94043471 94043640 + 63 54 53 G A 94043493 1777 23 ATTATTAGCAAATCTCCTGAACATAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414180 94414181 94414181 upstr_intron -41 -0.634920634920635 ATTATTAGCAAATCTCCTGAACATAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 28 93 0.994481147276132 0.999589734969125 0.997035441122628 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.108994979397734 0.00340851881440518 0.980343442419603 0.940833692016559 NA 0.0562017491060697 NA FALSE NA 0.003 0.495 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94414181 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.352762 0.15618 0.02551 0.088506 0.629331432928779 0.143518 0.99975494444276 TRUE 0.182796 ENSE00001335500_005 ENSE00001335500 005 7 94043471 94043640 + 63 54 53 G C 94043493 1778 23 ATTATTAGCAAATCTCCTGAACCTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414180 94414181 94414181 upstr_intron -41 -0.634920634920635 ATTATTAGCAAATCTCCTGAACCTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 145 239 1 1 1 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.114513832121602 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0591663079834414 NA FALSE NA 0.003 0.495 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003608938 intron_variant -0.119797 0.24095 0.20465 0.088506 0.487134935606059 0.143518 0.99975494444276 TRUE 8.15036e-06 ENSE00001335500_006 ENSE00001335500 006 7 94043471 94043640 + 63 54 53 C T 94043498 1779 28 ATTATTAGCAAATCTCCTGAACGTAGCTATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414185 94414186 94414186 upstr_intron -36 -0.555555555555556 ATTATTAGCAAATCTCCTGAACGTAGCTATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 270 166 0.928105152329823 1 0.964052576164912 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.0426189844514256 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0232188841483531 NA FALSE NA 0 -0.156 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 2/4 1 NA CCA C,T 1.647e-05 7:94414186 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.668261 0.33809 0.08909 0.088506 0.711763180066454 0.942049 0.99975494444276 TRUE 8.13154e-06 ENSE00001335500_007 ENSE00001335500 007 7 94043471 94043640 + 63 54 53 A G 94043499 1780 29 ATTATTAGCAAATCTCCTGAACGTAGCCGTGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414186 94414187 94414187 upstr_intron -35 -0.53968253968254 ATTATTAGCAAATCTCCTGAACGTAGCCGTGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 559 236 0.998144834810678 1 0.999072417405339 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.11265866693228 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0582387253887804 NA FALSE NA 0 0.221 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 2/4 1 NA CAT A,G 8.236e-06 7:94414187 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.254595 0.24722 0.07153 0.088506 0.558048940529086 0.131269 0.99975494444276 TRUE 1.21953e-05 ENSE00001335500_008 ENSE00001335500 008 7 94043471 94043640 + 63 54 53 A G 94043504 1781 34 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGGTTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414191 94414192 94414192 upstr_intron -30 -0.46031746031746 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGGTTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 328 494 0.953382569665041 0.999679719444179 0.97653114455461 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.0678964017866431 0.00349850328945911 0.980343442419603 0.940833692016559 NA 0.0356974525380511 NA FALSE NA 0.656 0.73 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 2/4 1 NA GAT A,G 8.236e-06 7:94414192 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.632328 0.21252 0.08403 0.088506 0.681403940491764 0.261012 0.99975494444276 TRUE 4.06484e-06 ENSE00001335500_009 ENSE00001335500 009 7 94043471 94043640 + 63 54 53 T C 94043505 1782 35 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGACTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414192 94414193 94414193 upstr_intron -29 -0.444444444444444 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGACTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 207 302 1 1 1 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.114513832121602 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0591663079834414 NA FALSE NA 0.667 0.66 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 2/4 1 NA ATT T,C 8.236e-06 7:94414193 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.756049 0.38569 0.26061 0.088506 0.811584541373543 0.4338 0.99975494444276 TRUE 1.21937e-05 ENSE00001335500_011 ENSE00001335500 011 7 94043471 94043640 + 63 54 53 T C 94043517 1784 47 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTACTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414204 94414205 94414205 upstr_intron -17 -0.253968253968254 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTACTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 481 126 1 1 1 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.114513832121602 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0591663079834414 NA FALSE NA 0.002 1.567 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 2/4 1 NA ATT T,C 1.647e-05 7:94414205 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 1.543226 0.31272 0.27706 0.088506 0.866051547257362 0.407873 0.99975494444276 TRUE 1.62487e-05 ENSE00001335500_012 ENSE00001335500 012 7 94043471 94043640 + 63 54 53 C T 94043557 1785 87 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCTGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414244 94414245 94414245 exon 24 0.444444444444444 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCTGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 1014 497 0.941064384326774 0.991022816890744 0.966043600608759 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.0555782164483761 -0.00515839926397521 0.980343442419603 0.940833692016559 NA 0.0252099085922005 NA FALSE NA 0.032 0.278 rs183493537 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/5 rs183493537&COSM2865010 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 2.471e-05 7:94414245 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 synonymous_variant 1.915228 0.21856 0.05411 0.706548 0.372595116726511 0 0.99975494444276 TRUE 1.62454e-05 ENSE00001335500_013 ENSE00001335500 013 7 94043471 94043640 + 63 54 53 G A 94043558 1786 88 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCACTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414245 94414246 94414246 exon 25 0.462962962962963 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCACTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 127 764 0.99724880662836 0.997828879448022 0.997538843038191 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.111762638749962 0.00164766329330257 0.980343442419603 0.940833692016559 NA 0.0567051510216324 NA FALSE NA 0.042 0.186 rs41317153 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/5 rs41317153 1 NA A:0 A:0.0001 CGC G,A 1.647e-05 7:94414246 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 missense_variant 1.680628 0.29856 0.30595 0.706548 0.959289544258669 0 0.99975494444276 TRUE 2.84287e-05 ENSE00001335500_014 ENSE00001335500 014 7 94043471 94043640 + 63 54 53 C T 94043572 1787 102 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGTAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414259 94414260 94414260 exon -16 0.722222222222222 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGTAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 1234 743 0.996343660690482 0.99974348639484 0.998043573542661 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.110857492812084 0.00356227024012046 0.980343442419603 0.940833692016559 NA 0.0572098815261022 NA FALSE NA 0.87 0.058 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/5 rs370487959 1 NA T:0.0002 T:0 GCA C,T 8.236e-06 7:94414260 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 synonymous_variant 1.720759 0.91067 0.77572 0.706548 0.692799986170254 0 0.99975494444276 TRUE 4.06121e-06 ENSE00001335500_015 ENSE00001335500 015 7 94043471 94043640 + 63 54 53 G C 94043586 1788 116 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAACGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414273 94414274 94414274 exon -2 0.981481481481482 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAACGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 1561 1037 0.996830940298829 0.999853069446673 0.998342004872751 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.111344772420431 0.00367185329195374 0.980343442419603 0.940833692016559 NA 0.0575083128561922 NA FALSE NA 1 5.028 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW COL1A2 HGNC 2198 ENST00000488298 3/5 1 NA AGG G,C 8.236e-06 7:94414274 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 missense_variant 3.121131 0.9495 0.96504 0.706548 0.957242446374018 0 0.99975494444276 TRUE 8.12328e-06 ENSE00001335500_016 ENSE00001335500 016 7 94043471 94043640 + 63 54 53 G A 94043592 1789 122 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAATAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414279 94414280 94414280 downstr_intron 5 1.09615384615385 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAATAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 14 11 0.954273560890981 0.966503349785123 0.960388455338052 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.0687873930125836 -0.029677866369596 0.980343442419603 0.940833692016559 NA 0.0195547633214938 NA FALSE NA 1 7.046 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW COL1A2 HGNC 2198 ENST00000488298 3/4 1 NA AGT G,A 8.236e-06 7:94414280 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 splice_region_variant 2.184079 0.96494 0.97308 0.088506 0.976742552384344 0.988872 0.99975494444276 TRUE 4.06204e-06 ENSE00001335500_017 ENSE00001335500 017 7 94043471 94043640 + 63 54 53 A G 94043596 1790 126 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAGACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414283 94414284 94414284 downstr_intron 9 1.17307692307692 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAGACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 133 544 1 1 1 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.114513832121602 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0591663079834414 NA FALSE NA 0.013 0.97 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/4 1 NA AAA A,G 8.236e-06 7:94414284 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.425675 0.23755 0.08278 0.088506 0.656222976020399 0.166267 0.99975494444276 TRUE 4.06204e-06 ENSE00001335500_018 ENSE00001335500 018 7 94043471 94043640 + 63 54 53 A G 94043597 1791 127 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAGCAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414284 94414285 94414285 downstr_intron 10 1.19230769230769 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAGCAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 863 190 0.940385987621033 1 0.970192993810516 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.0548998197426348 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0293593017939577 NA FALSE NA 0 0.615 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/4 1 NA AAC A,G 1.647e-05 7:94414285 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant 0.264378 0.20621 0.06733 0.088506 0.697594149848961 0.166267 0.99975494444276 TRUE 4.0619e-06 ENSE00001335500_020 ENSE00001335500 020 7 94043471 94043640 + 63 54 53 T C 94043605 1793 135 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAACAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414292 94414293 94414293 downstr_intron 18 1.34615384615385 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAACAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 274 418 0.993063161871357 1 0.996531580935678 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.107576993992959 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0556978889191198 NA FALSE NA 0 -0.156 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/4 1 NA ATA T,C 8.236e-06 7:94414293 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant -0.145876 0.22086 0.1407 0.088506 0.459857555939551 0.0956127 0.99975494444276 TRUE 1.21905e-05 ENSE00001335500_021 ENSE00001335500 021 7 94043471 94043640 + 63 54 53 A G 94043609 1794 139 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTGAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414296 94414297 94414297 downstr_intron 22 1.42307692307692 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTGAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 1159 838 0.999867758050627 0.999811227831165 0.999839492940896 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.114381590172229 0.00363001167644572 0.980343442419603 0.940833692016559 NA 0.0590058009243374 NA FALSE NA 0 0.391 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/4 rs376462470 1 NA G:0.0002 G:0 TAA A,G 8.236e-06 7:94414297 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant -0.004532 0.1869 0.05853 0.088506 0.439504479409675 0.0956127 0.99975494444276 TRUE 4.06349e-06 ENSE00001335500_022 ENSE00001335500 022 7 94043471 94043640 + 63 54 53 A G 94043613 1795 143 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTGGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 94414300 94414301 94414301 downstr_intron 26 1.5 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTGGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 57 305 1 1 1 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.114513832121602 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0591663079834414 NA FALSE NA 0 0.213 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/4 rs370621038 1 NA G:0 G:0.0002 TAG A,G 0.000173 7:94414301 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant -0.44752 0.19986 0.01219 0.088506 0.338964248444825 0.0791115 0.99975494444276 TRUE 0.000174812 ENSE00001335500_023 ENSE00001335500 023 7 94043471 94043640 + 63 54 53 G A 94043629 1796 159 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTAAGAATTTCCCC 94414158 94414328 94414316 94414317 94414317 downstr_intron 42 1.80769230769231 ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTAAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC mutant NA NA NA NA NA 926 389 0.998434059189941 1 0.99921702959497 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 NA NA 0.112947891311543 0.00381878384528056 0.980343442419603 0.940833692016559 NA 0.0583833375784117 NA FALSE NA 0 -0.923 . intron_variant&non_coding_transcript_variant MODIFIER COL1A2 HGNC 2198 ENST00000488298 3/4 1 NA TGA G,A 8.237e-06 7:94414317 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003608938 intron_variant -0.052258 0.17252 0.01979 0.088506 0.592583350840238 0.0791115 0.99975494444276 TRUE 4.0855e-06 ENSE00001335500_BRK ENSE00001335500 BRK 7 94043471 94043640 + 63 54 53 A,G; T,T NA NA NA ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTTTGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGCCGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC 94414158 94414328 NA NA NA NA NA NA ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTTTGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGCCGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC ATTATTAGCAAATCTCCTGAACGTAGCCATGGGATTGAGATTTGTATTTCTTTTCATTTTTAGGGTCTGCCTGGCCCCTCAGGTCCCGCTGGTGAAGTTGGCAAACCAGGAGAAAGGGTGAGTAAAACAAGTAATAGTAAGTAGTAACTACTAAACTTGAGAATTTCCCC control 17 34 0 0 0 221 893 0.0960718402251642 0.007994357501722 0.0520330988634431 0.979438400780372 0.981248484058834 0.885486167878398 0.996181216154719 -0.979438400780372 -0.981248484058834 -0.789414327653234 -0.988186858652997 0.980343442419603 0.940833692016559 -0.980343442419603 -0.888800593153116 0.0915428492664878 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003608938 NA NA NA NA NA NA NA 0.99975494444276 TRUE NA ENSE00001335868_000 ENSE00001335868 000 17 75488661 75488830 + 42 96 32 NA NA NA NA NA TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 NA NA NA NA NA NA TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG natural NA NA NA NA NA 314 370 0.994090989810379 1 0.99704549490519 NA NA 0.994090989810379 1 NA NA 0 0 NA 0.99704549490519 NA 0 NA FALSE NA NA NA NA NA NA SEPT9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEPT9 NA NA NA ENSG00000184640 ENSE00003620974 NA NA NA NA NA NA NA 0.892006145895558 FALSE NA ENSE00001335868_001 ENSE00001335868 001 17 75488661 75488830 + 42 96 32 A G 75488672 3154 12 TTGCCACAGGGGTGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492589 77492590 77492590 upstr_intron -31 -0.714285714285714 TTGCCACAGGGGTGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 190 128 1 1 1 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 0 NA 0.99704549490519 NA 0.00295450509481027 NA FALSE NA 0 -0.178 . intron_variant MODIFIER SEPT9 HGNC 7323 ENST00000427674 7/10 1 NA GAT A,G 8.256e-06 17:77492590 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 intron_variant 0.257429 0.197 0.02197 0.256867 0.568196842851952 0.0545974 0.892006145895558 FALSE 4.06266e-06 ENSE00001335868_002 ENSE00001335868 002 17 75488661 75488830 + 42 96 32 G A 75488674 3155 14 CCTGGGAACAACATCCTAGTGGATCCACTCACCCGGAACTTCTCGTTCACCAGCCGGTCCTCCGAGTCCTCATCAAATTCCTTCTGGGGGTACACGTCGATGCCGTTGGACAGCAGGTCTGCGGTGATCTGGGATAAGGAGGGAGAGAGATGGGCCTATCCCTGTGGCAA 77492578 77492748 77492591 77492592 77492592 upstr_intron -29 -0.666666666666667 TTGCCACAGGGATAGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 79 30 1 1 1 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 0 NA 0.99704549490519 NA 0.00295450509481027 NA FALSE NA 0.001 1.495 rs41282091 intron_variant MODIFIER SEPT9 HGNC 7323 ENST00000427674 7/10 rs41282091 1 A:0.0200 A:0.0166 A:0.0101 NA A:0.0248 A:0.0099 A:0.0368 A:0.0221 A:0.0052 TGG G,A 0.012 17:77492592 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 intron_variant 0.180876 0.15574 0.04279 0.256867 0.612736548167392 0.0545974 0.892006145895558 FALSE 0.0114044 ENSE00001335868_004 ENSE00001335868 004 17 75488661 75488830 + 42 96 32 C T 75488682 3157 22 TTGCCACAGGGATGGGCCCATTTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492599 77492600 77492600 upstr_intron -21 -0.476190476190476 TTGCCACAGGGATGGGCCCATTTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 202 689 1 0.998156163032603 0.999078081516301 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 -0.00184383696739709 NA 0.99704549490519 NA 0.00203258661111172 NA FALSE NA 0 -1.401 NA NA NA SEPT9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:77492600 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 intron_variant 0.428579 0.21296 0.0485 0.256867 0.714030971787818 0.0545974 0.892006145895558 FALSE 8.12308e-06 ENSE00001335868_006 ENSE00001335868 006 17 75488661 75488830 + 42 96 32 C T 75488693 3159 33 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCTTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492610 77492611 77492611 upstr_intron -10 -0.214285714285714 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCTTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 821 437 0.993972352198051 0.999637923707085 0.996805137952568 NA NA 0.994090989810379 1 NA NA -0.000118637612328776 -0.000362076292915181 NA 0.99704549490519 NA -0.000240356952621978 NA FALSE NA 0 -1.327 . intron_variant MODIFIER SEPT9 HGNC 7323 ENST00000427674 7/10 1 NA CCT C,T 8.258e-06 17:77492611 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 intron_variant 1.093169 0.23737 0.0397 0.256867 0.856831487386645 0.146095 0.892006145895558 FALSE 4.06121e-06 ENSE00001335868_007 ENSE00001335868 007 17 75488661 75488830 + 42 96 32 T G 75488695 3160 35 CCTGGGAACAACATCCTAGTGGATCCACTCACCCGGAACTTCTCGTTCACCAGCCGGTCCTCCGAGTCCTCATCAAATTCCTTCTGGGGGTACACGTCGATGCCGTTGGACAGCAGGTCTGCGGTGATCTGGGATCAGGAGGGAGAGAGATGGGCCCATCCCTGTGGCAA 77492578 77492748 77492612 77492613 77492613 upstr_intron -8 -0.166666666666667 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTGATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 179 23 1 0.95 0.975 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 -0.0499999999999999 NA 0.99704549490519 NA -0.0220454949051897 NA FALSE NA 0 -1.699 . splice_region_variant&intron_variant LOW SEPT9 HGNC 7323 ENST00000427674 7/10 1 NA TTA T,G 8.258e-06 17:77492613 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 splice_region_variant 0.882838 0.17438 0.0194 0.256867 0.653663336724152 0.146095 0.892006145895558 FALSE NA ENSE00001335868_010 ENSE00001335868 010 17 75488661 75488830 + 42 96 32 G A 75488709 3163 49 CCTGGGAACAACATCCTAGTGGATCCACTCACCCGGAACTTCTCGTTCACCAGCCGGTCCTCCGAGTCCTCATCAAATTCCTTCTGGGGGTACACGTCGATGCCGTTGGACAGCAGGTCTGTGGTGATCTGGGATAAGGAGGGAGAGAGATGGGCCCATCCCTGTGGCAA 77492578 77492748 77492626 77492627 77492627 exon 7 0.0729166666666667 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCACAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 85 1353 0.976238121868085 0.999854934787487 0.988046528327786 NA NA 0.994090989810379 1 NA NA -0.0178528679422949 -0.000145065212512563 NA 0.99704549490519 NA -0.00899896657740373 NA FALSE NA 0.998 4.009 . missense_variant MODERATE SEPT9 HGNC 7323 ENST00000427674 8/11 1 tolerated(0.12) benign(0.244) NA CGC G,A 8.258e-06 17:77492627 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 missense_variant 4.242576 0.95607 0.88182 0.706548 0.997363232987084 0 0.892006145895558 FALSE 8.12209e-06 ENSE00001335868_011 ENSE00001335868 011 17 75488661 75488830 + 42 96 32 C T 75488715 3164 55 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACTTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492632 77492633 77492633 exon 13 0.135416666666667 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACTTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 327 46 1 0.992186933346908 0.996093466673454 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 -0.00781306665309212 NA 0.99704549490519 NA -0.000952028231735791 NA FALSE NA 1 2.599 . synonymous_variant LOW SEPT9 HGNC 7323 ENST00000427674 8/11 1 NA CCT C,T 1.652e-05 17:77492633 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 synonymous_variant 1.906254 0.94999 0.84336 0.706548 0.766622954400035 0 0.892006145895558 FALSE 8.12176e-06 ENSE00001335868_012 ENSE00001335868 012 17 75488661 75488830 + 42 96 32 G A 75488720 3165 60 CCTGGGAACAACATCCTAGTGGATCCACTCACCCGGAACTTCTCGTTCACCAGCCGGTCCTCCGAGTCCTCATCAAATTCCTTCTGGGGGTACACGTCGATGCCGTTGGATAGCAGGTCTGCGGTGATCTGGGATAAGGAGGGAGAGAGATGGGCCCATCCCTGTGGCAA 77492578 77492748 77492637 77492638 77492638 exon 18 0.1875 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTATCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 102 481 1 0.993034646596288 0.996517323298144 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 -0.00696535340371196 NA 0.99704549490519 NA -0.000528171607045713 NA FALSE NA 0.051 -0.502 NA NA NA SEPT9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:77492638 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 synonymous_variant 1.503446 0.91078 0.25307 0.706548 0.781095395092967 0 0.892006145895558 FALSE 0.000207102 ENSE00001335868_017 ENSE00001335868 017 17 75488661 75488830 + 42 96 32 C T 75488735 3170 75 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGATGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492652 77492653 77492653 exon 33 0.34375 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGATGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 493 152 0.998233709655552 0.982977537437117 0.990605623546334 NA NA 0.994090989810379 1 NA NA 0.00414271984517223 -0.0170224625628833 NA 0.99704549490519 NA -0.00643987135885554 NA FALSE NA 0 -2.369 . synonymous_variant LOW SEPT9 HGNC 7323 ENST00000427674 8/11 1 NA ACG C,T 4.133e-05 17:77492653 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 synonymous_variant 2.197399 0.90009 0.14637 0.706548 0.688441444555745 0 0.892006145895558 FALSE 4.46708e-05 ENSE00001335868_019 ENSE00001335868 019 17 75488661 75488830 + 42 96 32 C A 75488745 3172 85 CCTGGGAACAACATCCTAGTGGATCCACTCACCCGGAACTTCTCGTTCACCAGCCGGTCCTCCGAGTCCTCATCAAATTCCTTCTTGGGGTACACGTCGATGCCGTTGGACAGCAGGTCTGCGGTGATCTGGGATAAGGAGGGAGAGAGATGGGCCCATCCCTGTGGCAA 77492578 77492748 77492662 77492663 77492663 exon 43 0.447916666666667 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCAAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 143 59 0.995302443394734 1 0.997651221697367 NA NA 0.994090989810379 1 NA NA 0.00121145358435415 0 NA 0.99704549490519 NA 0.000605726792177075 NA FALSE NA 1 7.65 . missense_variant MODERATE SEPT9 HGNC 7323 ENST00000427674 8/11 1 deleterious(0.03) possibly_damaging(0.707) NA CCA C,A 8.266e-06 17:77492663 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 missense_variant 6.337394 0.96204 0.94699 0.706548 0.99292001958098 0 0.892006145895558 FALSE 1.21832e-05 ENSE00001335868_021 ENSE00001335868 021 17 75488661 75488830 + 42 96 32 C T 75488767 3174 107 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTTGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492684 77492685 77492685 exon -32 0.677083333333333 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTTGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 565 25 0.99926933575117 1 0.999634667875585 NA NA 0.994090989810379 1 NA NA 0.00517834594079092 0 NA 0.99704549490519 NA 0.00258917297039546 NA FALSE NA 0.036 3.094 . missense_variant MODERATE SEPT9 HGNC 7323 ENST00000427674 8/11 1 tolerated(0.31) benign(0.067) NA TCG C,T 1.654e-05 17:77492685 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 missense_variant 3.285246 0.70738 0.31103 0.706548 0.987190391624184 0 0.892006145895558 FALSE 2.43667e-05 ENSE00001335868_022 ENSE00001335868 022 17 75488661 75488830 + 42 96 32 G A 75488768 3175 108 CCTGGGAACAACATCCTAGTGGATCCACTCACCCGGAACTTCTCGTTCACCAGCCGGTCCTCTGAGTCCTCATCAAATTCCTTCTGGGGGTACACGTCGATGCCGTTGGACAGCAGGTCTGCGGTGATCTGGGATAAGGAGGGAGAGAGATGGGCCCATCCCTGTGGCAA 77492578 77492748 77492685 77492686 77492686 exon -31 0.6875 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCAGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 81 69 1 0.986217016949737 0.993108508474868 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 -0.0137829830502633 NA 0.99704549490519 NA -0.00393698643032137 NA FALSE NA 0 -1.649 rs80015943 synonymous_variant LOW SEPT9 HGNC 7323 ENST00000427674 8/11 rs80015943 1 A:0.0014 A:0 A:0 NA A:0.005 A:0.002 A:0 A:0 A:0.0001 CGG G,A 0.0007443 17:77492686 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 synonymous_variant 1.570172 0.08742 0.03759 0.706548 0.776822922324564 0 0.892006145895558 FALSE 0.000694461 ENSE00001335868_023 ENSE00001335868 023 17 75488661 75488830 + 42 96 32 C G 75488774 3176 114 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGAGCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492691 77492692 77492692 exon -25 0.75 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGAGCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 314 34 1 1 1 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 0 NA 0.99704549490519 NA 0.00295450509481027 NA FALSE NA 1 2.586 . missense_variant MODERATE SEPT9 HGNC 7323 ENST00000427674 8/11 rs201739796 1 tolerated(0.36) possibly_damaging(0.651) G:0.0008 G:0 G:0 NA G:0.004 G:0 G:0 ACC C,G 0.000215 17:77492692 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 missense_variant 4.937361 0.96269 0.89412 0.706548 0.990114706615998 0 0.892006145895558 FALSE 0.00025585 ENSE00001335868_024 ENSE00001335868 024 17 75488661 75488830 + 42 96 32 C T 75488786 3177 126 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAATGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492703 77492704 77492704 exon -13 0.875 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAATGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 27 62 1 1 1 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 0 NA 0.99704549490519 NA 0.00295450509481027 NA FALSE NA 0 -2.061 . synonymous_variant LOW SEPT9 HGNC 7323 ENST00000427674 8/11 1 NA ACG C,T 8.273e-06 17:77492704 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 synonymous_variant 2.122417 0.88609 0.08826 0.706548 0.751939598170748 0 0.892006145895558 FALSE 1.62464e-05 ENSE00001335868_025 ENSE00001335868 025 17 75488661 75488830 + 42 96 32 G A 75488787 3178 127 CCTGGGAACAACATCCTAGTGGATCCACTCACCCGGAACTTCTTGTTCACCAGCCGGTCCTCCGAGTCCTCATCAAATTCCTTCTGGGGGTACACGTCGATGCCGTTGGACAGCAGGTCTGCGGTGATCTGGGATAAGGAGGGAGAGAGATGGGCCCATCCCTGTGGCAA 77492578 77492748 77492704 77492705 77492705 exon -12 0.885416666666667 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACAAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 692 360 0.998446234790987 1 0.999223117395494 NA NA 0.994090989810379 1 NA NA 0.00435524498060746 0 NA 0.99704549490519 NA 0.00217762249030373 NA FALSE NA 1 9.651 . missense_variant MODERATE SEPT9 HGNC 7323 ENST00000427674 8/11 1 tolerated(0.11) benign(0.073) NA CGA G,A 8.272e-06 17:77492705 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 missense_variant 4.844795 0.97424 0.96577 0.706548 0.998099993730387 0 0.892006145895558 FALSE 4.06154e-06 ENSE00001335868_027 ENSE00001335868 027 17 75488661 75488830 + 42 96 32 C T 75488795 3180 135 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTTCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492712 77492713 77492713 exon -4 0.96875 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTTCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 109 918 1 0.999286215834786 0.999643107917393 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 -0.000713784165214282 NA 0.99704549490519 NA 0.00259761301220313 NA FALSE NA 1 1.078 . synonymous_variant LOW SEPT9 HGNC 7323 ENST00000427674 8/11 rs200274444 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCC C,T 0.0001241 17:77492713 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 synonymous_variant 2.379708 0.92185 0.69762 0.706548 0.775367141861953 0 0.892006145895558 FALSE 0.000162475 ENSE00001335868_028 ENSE00001335868 028 17 75488661 75488830 + 42 96 32 C T 75488796 3181 136 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCTGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG 77492578 77492748 77492713 77492714 77492714 exon -3 0.979166666666667 TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCTGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG TTGCCACAGGGATGGGCCCATCTCTCTCCCTCCTTATCCCAGATCACCGCAGACCTGCTGTCCAACGGCATCGACGTGTACCCCCAGAAGGAATTTGATGAGGACTCGGAGGACCGGCTGGTGAACGAGAAGTTCCGGGTGAGTGGATCCACTAGGATGTTGTTCCCAGG mutant NA NA NA NA NA 265 113 1 1 1 NA NA 0.994090989810379 1 NA NA 0.00590901018962053 0 NA 0.99704549490519 NA 0.00295450509481027 NA FALSE NA 1 2.375 . missense_variant&splice_region_variant MODERATE SEPT9 HGNC 7323 ENST00000427674 8/11 COSM4130687&COSM4130685&COSM4130684&COSM4130683&COSM4130686 1 deleterious(0) possibly_damaging(0.673) NA CCG C,T 8.273e-06 17:77492714 SEPT9 HGNC Symbol protein_coding 220027 ENSG00000184640 ENSE00003620974 missense_variant 7.561316 0.92718 0.75961 0.706548 0.999094687744758 0 0.892006145895558 FALSE 8.12381e-06 ENSE00001337610_000 ENSE00001337610 000 8 139793117 139793286 - 53 54 63 NA NA NA NA NA AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 NA NA NA NA NA NA AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC natural 13 41 0.995099616780257 0.991720746034857 0.993410181407557 2747 2196 0.994274349247232 0.970047979261599 0.982161164254415 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 0 0 0 0 0.993410181407557 0.982161164254415 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001337610 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001337610_002 ENSE00001337610 002 8 139793117 139793286 - 53 54 63 C T 139793133 2907 154 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAATACTAGGCTGGTGATC 138780873 138781043 138780889 138780890 138780890 downstr_intron 37 1.71153846153846 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAATACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 23 582 1 1 1 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0299520207384011 0.993410181407557 0.982161164254415 NA 0.0178388357455847 NA FALSE NA 0 0.184 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA ACT C,T 4.942e-05 8:138780890 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant -0.046639 0.16203 0.04965 0.061011 0.443250388439919 0.0527255 8.25832618148535e-32 FALSE 4.07359e-05 ENSE00001337610_003 ENSE00001337610 003 8 139793117 139793286 - 53 54 63 C T 139793155 2908 132 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCATCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780911 138780912 138780912 downstr_intron 15 1.28846153846154 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCATCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 114 1953 1 0.976095658746411 0.988047829373206 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.00604767948481255 0.993410181407557 0.982161164254415 NA 0.00588666511879044 NA FALSE NA 0 -3.242 rs142904105 upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 rs142904105 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 ACG C,T 6.589e-05 8:138780912 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant 0.083546 0.14301 0.01274 0.061011 0.65462904498237 0.0527255 8.25832618148535e-32 FALSE 4.48087e-05 ENSE00001337610_004 ENSE00001337610 004 8 139793117 139793286 - 53 54 63 G A 139793156 2909 131 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCTGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780912 138780913 138780913 downstr_intron 14 1.26923076923077 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCTGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 469 695 0.999824373883212 0.992668471348471 0.996246422615842 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00555002463598042 0.0226204920868726 0.993410181407557 0.982161164254415 NA 0.0140852583614265 NA FALSE NA 0.001 0.95 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA CGG G,A 3.295e-05 8:138780913 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant 0.323929 0.21669 0.07142 0.061011 0.640463611200321 0.0527255 8.25832618148535e-32 FALSE 2.44415e-05 ENSE00001337610_005 ENSE00001337610 005 8 139793117 139793286 - 53 54 63 C A 139793160 2910 127 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTTTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780916 138780917 138780917 downstr_intron 10 1.19230769230769 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTTTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 1307 186 0.999146737572205 0.990458180069086 0.994802458820646 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00487238832497305 0.0204102008074875 0.993410181407557 0.982161164254415 NA 0.0126412945662303 NA FALSE NA 0 -0.673 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 rs541734286 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ACA C,A 2.471e-05 8:138780917 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant 0.452931 0.147 0.02068 0.061011 0.665185016682917 0.144948 8.25832618148535e-32 FALSE 1.62909e-05 ENSE00001337610_006 ENSE00001337610 006 8 139793117 139793286 - 53 54 63 T C 139793167 2911 120 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTGAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780923 138780924 138780924 downstr_intron 3 1.05769230769231 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTGAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 810 511 1 1 1 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0299520207384011 0.993410181407557 0.982161164254415 NA 0.0178388357455847 NA FALSE NA 0.606 0.539 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA TTA T,C 1.647e-05 8:138780924 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 splice_region_variant 0.717762 0.8427 0.26743 0.061011 0.795456561468722 0.416567 8.25832618148535e-32 FALSE 8.14617e-06 ENSE00001337610_007 ENSE00001337610 007 8 139793117 139793286 - 53 54 63 T C 139793170 2912 117 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGGGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780926 138780927 138780927 exon -1 1 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGGGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 507 155 0.997787559925523 0.985440170914961 0.991613865420242 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00351321067829113 0.0153921916533617 0.993410181407557 0.982161164254415 NA 0.00945270116582642 NA FALSE NA 0.999 0.543 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 rs575650476 1 NA CTC T,C 1.647e-05 8:138780927 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 splice_region_variant 0.863105 0.93184 0.11424 0.638212 0.825463534799862 0 8.25832618148535e-32 FALSE 1.2223e-05 ENSE00001337610_008 ENSE00001337610 008 8 139793117 139793286 - 53 54 63 C T 139793173 2913 114 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATAAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780929 138780930 138780930 exon -4 0.944444444444444 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATAAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 340 96 0.921574175680196 0.999203187891264 0.96038868178573 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.0727001735670355 0.0291552086296654 0.993410181407557 0.982161164254415 NA -0.0217724824686851 NA FALSE NA 1 0.488 rs144244180 upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 rs144244180 1 NA T:0 T:0.0001 TCA C,T 3.295e-05 8:138780930 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 missense_variant 2.370135 0.95621 0.55096 0.638212 0.942157687772183 0 8.25832618148535e-32 FALSE 1.63012e-05 ENSE00001337610_010 ENSE00001337610 010 8 139793117 139793286 - 53 54 63 G A 139793182 2915 105 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGTAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780938 138780939 138780939 exon -13 0.777777777777778 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGTAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 1501 1225 0.993701450069812 0.988043481827364 0.990872465948588 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.000572899177419761 0.0179955025657649 0.993410181407557 0.982161164254415 NA 0.00871130169417256 NA FALSE NA 1 0.924 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA TGC G,A 2.471e-05 8:138780939 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 synonymous_variant 1.232322 0.95439 0.46808 0.638212 0.610239793461903 0 8.25832618148535e-32 FALSE 1.22421e-05 ENSE00001337610_011 ENSE00001337610 011 8 139793117 139793286 - 53 54 63 G C 139793185 2916 102 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGGAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780941 138780942 138780942 exon -16 0.722222222222222 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGGAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 84 726 1 0.99693788951529 0.998468944757645 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0268899102536916 0.993410181407557 0.982161164254415 NA 0.01630778050323 NA FALSE NA 1 1.535 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138780942 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 synonymous_variant 0.8138 0.9697 0.80075 0.638212 0.722564723034775 0 8.25832618148535e-32 FALSE 4.08273e-06 ENSE00001337610_012 ENSE00001337610 012 8 139793117 139793286 - 53 54 63 G A 139793185 2917 102 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGTAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780941 138780942 138780942 exon -16 0.722222222222222 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGTAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 178 94 0.978666210394984 0.999186147839881 0.988926179117433 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.0156081388522474 0.0291381685782823 0.993410181407557 0.982161164254415 NA 0.00676501486301745 NA FALSE NA 1 1.535 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001337610 synonymous_variant 1.228732 0.96563 0.70611 0.638212 0.687584503028098 0 8.25832618148535e-32 FALSE 1.22482e-05 ENSE00001337610_013 ENSE00001337610 013 8 139793117 139793286 - 53 54 63 C T 139793186 2918 101 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGACAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780942 138780943 138780943 exon -17 0.703703703703704 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGACAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 351 92 0.999176373651979 0.999585263958169 0.999380818805074 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00490202440474696 0.0295372846965699 0.993410181407557 0.982161164254415 NA 0.0172196545506584 NA FALSE NA 1 2.943 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA GCC C,T 8.236e-06 8:138780943 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 missense_variant 3.447955 0.97932 0.84194 0.638212 0.998025381470345 0 8.25832618148535e-32 FALSE NA ENSE00001337610_014 ENSE00001337610 014 8 139793117 139793286 - 53 54 63 C T 139793187 2919 100 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACAGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780943 138780944 138780944 exon -18 0.685185185185185 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACAGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 624 622 0.996595295388635 0.993157631345027 0.994876463366831 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00232094614140321 0.0231096520834283 0.993410181407557 0.982161164254415 NA 0.0127152991124158 NA FALSE NA 0.989 2.943 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA CCG C,T 8.236e-06 8:138780944 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 missense_variant 4.21798 0.97771 0.83572 0.638212 0.998815677604946 0 8.25832618148535e-32 FALSE 8.1684e-06 ENSE00001337610_015 ENSE00001337610 015 8 139793117 139793286 - 53 54 63 G A 139793188 2920 99 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGATGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780944 138780945 138780945 exon -19 0.666666666666667 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGATGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 130 818 1 0.999813686291997 0.999906843145998 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0297657070303977 0.993410181407557 0.982161164254415 NA 0.017745678891583 NA FALSE NA 0.632 -1.12 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 rs373172764&COSM3929398 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGT G,A 0.00014 8:138780945 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 synonymous_variant 0.655757 0.62683 0.07958 0.638212 0.573624298503766 0 8.25832618148535e-32 FALSE 0.000155203 ENSE00001337610_016 ENSE00001337610 016 8 139793117 139793286 - 53 54 63 G C 139793199 2921 88 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCGCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780955 138780956 138780956 exon 25 0.462962962962963 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCGCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 634 809 0.980121066966202 0.999757333784388 0.989939200375295 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.0141532822810296 0.0297093545227894 0.993410181407557 0.982161164254415 NA 0.00777803612087991 NA FALSE NA 1 3.72 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138780956 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 missense_variant 1.57709 0.96092 0.87903 0.638212 0.995099041566945 0 8.25832618148535e-32 FALSE 0.000280011 ENSE00001337610_017 ENSE00001337610 017 8 139793117 139793286 - 53 54 63 G T 139793199 2922 88 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCACTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780955 138780956 138780956 exon 25 0.462962962962963 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCACTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 13 2884 0.843356546780185 0.998588787952338 0.920972667366262 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.150917802467046 0.0285408086907389 0.993410181407557 0.982161164254415 NA -0.0611884968881536 NA FALSE NA 1 3.72 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001337610 missense_variant 1.996032 0.96042 0.87363 0.638212 0.997963003470594 0 8.25832618148535e-32 FALSE 9.88272e-05 ENSE00001337610_019 ENSE00001337610 019 8 139793117 139793286 - 53 54 63 G C 139793202 2924 85 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCGCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780958 138780959 138780959 exon 22 0.407407407407407 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCGCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 159 1122 0.988177926367848 0.99951874480566 0.993848335586754 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.00609642287938417 0.0294707655440611 0.993410181407557 0.982161164254415 NA 0.0116871713323385 NA FALSE NA 0.99 2.312 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 COSM3645656 1 NA GGG G,C 8.236e-06 8:138780959 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 missense_variant 0.999597 0.86425 0.76098 0.638212 0.98882689041284 0 8.25832618148535e-32 FALSE 4.2027e-06 ENSE00001337610_020 ENSE00001337610 020 8 139793117 139793286 - 53 54 63 G A 139793206 2925 81 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCTGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780962 138780963 138780963 exon 18 0.333333333333333 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCTGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 1329 314 0.824575008285733 0.984763826163537 0.904669417224635 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.169699340961498 0.0147158469019382 0.993410181407557 0.982161164254415 NA -0.07749174702978 NA FALSE NA 0.018 -2.401 rs146125978 upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 rs146125978 1 A:0.0040 A:0.0144 A:0.0014 NA A:0 A:0 A:0 A:0.0095 A:0 CGG G,A 0.00117 8:138780963 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 synonymous_variant 1.207894 0.15202 0.00334 0.638212 0.587565626044733 0 8.25832618148535e-32 FALSE 0.000974397 ENSE00001337610_021 ENSE00001337610 021 8 139793117 139793286 - 53 54 63 G A 139793219 2926 68 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTTCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780975 138780976 138780976 exon 5 0.0925925925925926 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTTCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 374 317 0.998356987632778 1 0.999178493816389 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00408263838554623 0.0299520207384011 0.993410181407557 0.982161164254415 NA 0.0170173295619737 NA FALSE NA 0.989 3.72 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 COSM3645657 1 NA GGA G,A 8.237e-06 8:138780976 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 missense_variant 1.858882 0.92386 0.84948 0.553676 0.996420278809879 0 8.25832618148535e-32 FALSE 4.32859e-06 ENSE00001337610_022 ENSE00001337610 022 8 139793117 139793286 - 53 54 63 C T 139793222 2927 65 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGATTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780978 138780979 138780979 exon 2 0.037037037037037 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGATTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 636 251 1 0.992540191593421 0.99627009579671 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0224922123318217 0.993410181407557 0.982161164254415 NA 0.014108931542295 NA FALSE NA 0.909 1.641 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA ACC C,T 6.59e-05 8:138780979 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 missense_variant 2.269849 0.98196 0.77443 0.553676 0.998028454896576 0 8.25832618148535e-32 FALSE 8.80468e-05 ENSE00001337610_023 ENSE00001337610 023 8 139793117 139793286 - 53 54 63 C A 139793223 2928 64 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGTGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780979 138780980 138780980 exon 1 0.0185185185185185 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGTGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 368 164 1 0.995465512291109 0.997732756145554 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.02541753302951 0.993410181407557 0.982161164254415 NA 0.0155715918911392 NA FALSE NA 0.996 2.943 rs146832569 upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 rs146832569 1 NA A:0 A:0.0001 CCC C,A 8.237e-06 8:138780980 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 missense_variant 2.961135 0.98357 0.88216 0.553676 0.997408313522287 0 8.25832618148535e-32 FALSE NA ENSE00001337610_024 ENSE00001337610 024 8 139793117 139793286 - 53 54 63 T C 139793225 2929 62 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTGGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780981 138780982 138780982 upstr_intron -2 -0.0158730158730159 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTGGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 149 230 0.0411074883299592 0.161419740036466 0.101263614183213 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.953166860917272 -0.808628239225132 0.993410181407557 0.982161164254415 NA -0.880897550071202 NA TRUE NA 0.995 2.972 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 rs374022986 1 NA C:0.0002 C:0 CTA T,C 8.237e-06 8:138780982 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 splice_acceptor_variant 3.010496 0.97539 0.84699 0.061011 0.96775698301057 0.951079 8.25832618148535e-32 FALSE NA ENSE00001337610_026 ENSE00001337610 026 8 139793117 139793286 - 53 54 63 A C 139793237 2931 50 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTGTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780993 138780994 138780994 upstr_intron -14 -0.206349206349206 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTGTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 543 746 0.841596690111736 0.997447415228704 0.91952205267022 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.152677659135496 0.027399435967105 0.993410181407557 0.982161164254415 NA -0.0626391115841953 NA FALSE NA 0.001 -0.1 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA AAA A,C 8.238e-06 8:138780994 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant -0.322007 0.22698 0.03505 0.061011 0.6074752064832 0.17803 8.25832618148535e-32 FALSE 4.3912e-06 ENSE00001337610_027 ENSE00001337610 027 8 139793117 139793286 - 53 54 63 A G 139793240 2932 47 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCCCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780996 138780997 138780997 upstr_intron -17 -0.253968253968254 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCCCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 530 159 0.976111774266479 1 0.98805588713324 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA -0.0181625749807522 0.0299520207384011 0.993410181407557 0.982161164254415 NA 0.00589472287882442 NA FALSE NA 0.009 0.412 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA GAG A,G 2.471e-05 8:138780997 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant -0.197926 0.2022 0.0473 0.061011 0.632907178406368 0.178872 8.25832618148535e-32 FALSE 1.33065e-05 ENSE00001337610_028 ENSE00001337610 028 8 139793117 139793286 - 53 54 63 G T 139793241 2933 46 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTATCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138780997 138780998 138780998 upstr_intron -18 -0.26984126984127 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTATCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 145 623 1 0.999254920590283 0.999627460295142 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0292069413286844 0.993410181407557 0.982161164254415 NA 0.0174662960407264 NA FALSE NA 0.03 2.18 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA AGA G,T 8.238e-06 8:138780998 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant -0.464412 0.20181 0.14944 0.061011 0.605626545542316 0.185669 8.25832618148535e-32 FALSE 4.44389e-06 ENSE00001337610_029 ENSE00001337610 029 8 139793117 139793286 - 53 54 63 C G 139793247 2934 40 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTCCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138781003 138781004 138781004 upstr_intron -24 -0.365079365079365 AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTCCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 113 636 1 0.994381123122005 0.997190561561003 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0243331438604065 0.993410181407557 0.982161164254415 NA 0.0150293973065874 NA FALSE NA 0 -0.955 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA GCA C,G 8.239e-06 8:138781004 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant -0.065727 0.12979 0.06599 0.061011 0.491949552085001 0.121026 8.25832618148535e-32 FALSE 4.5278e-06 ENSE00001337610_031 ENSE00001337610 031 8 139793117 139793286 - 53 54 63 A G 139793262 2936 25 AGCATTCTGAGAGCCTGTCTCAGTCATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138781018 138781019 138781019 upstr_intron -39 -0.603174603174603 AGCATTCTGAGAGCCTGTCTCAGTCATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 161 58 1 1 1 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0299520207384011 0.993410181407557 0.982161164254415 NA 0.0178388357455847 NA FALSE NA 0 -0.207 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA TAA A,G 8.24e-06 8:138781019 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant -0.332542 0.11576 0.00111 0.061011 0.426935652206882 0.0845884 8.25832618148535e-32 FALSE 3.36752e-05 ENSE00001337610_032 ENSE00001337610 032 8 139793117 139793286 - 53 54 63 C A 139793270 2937 17 AGCATTCTGAGAGCCTTTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 138781026 138781027 138781027 upstr_intron -47 -0.73015873015873 AGCATTCTGAGAGCCTTTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC mutant NA NA NA NA NA 301 245 1 0.997154056654773 0.998577028327387 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 NA NA 0.00572565075276832 0.0271060773931743 0.993410181407557 0.982161164254415 NA 0.0164158640729713 NA FALSE NA 0 -1.929 . upstream_gene_variant MODIFIER COL22A1 HGNC 22989 ENST00000522546 1 NA ACA C,A 8.242e-06 8:138781027 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00001337610 intron_variant -0.048328 0.10202 0.0099 0.061011 0.536700690684384 0.0497025 8.25832618148535e-32 FALSE 1.01622e-05 ENSE00001337610_BRK ENSE00001337610 BRK 8 139793117 139793286 - 53 54 63 A,G; T,T NA NA NA AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTTTGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGACCAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC 138780873 138781043 NA NA NA NA NA NA AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTTTGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGACCAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC AGCATTCTGAGAGCCTGTCTCAGTTATTCTTTACTAATTGCTATTCTCTTTTTTTGGCTTTAGGGTTCCCTGGGCCTGCCCGGCCCCCCTGGGAGAGACGGCAGCAAAGGCATGAGAGTAAGTTCTGTTCCGTCTGCCCTGGCTCACAAGGCAGTACTAGGCTGGTGATC control 778 117 0 0 0 NA NA NA NA NA 0.995099616780257 0.991720746034857 0.994274349247232 0.970047979261599 -0.995099616780257 -0.991720746034857 NA NA 0.993410181407557 0.982161164254415 -0.993410181407557 NA NA NA TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00001337610 NA NA NA NA NA NA NA 8.25832618148535e-32 FALSE NA ENSE00001337723_000 ENSE00001337723 000 11 72319671 72319840 - 35 90 45 NA NA NA NA NA TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 NA NA NA NA NA NA TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC natural 25 37 0.993055032109042 0.966149035718104 0.979602033913573 1202 1335 0.936887580465272 0.951189400799767 0.944038490632519 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 0 0 0 0 0.979602033913573 0.944038490632519 0 0 0 FALSE FALSE NA NA NA NA NA PDE2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE2A NA NA NA ENSG00000186642 ENSE00003562606 NA NA NA NA NA NA NA 0.988417592612146 TRUE NA ENSE00001337723_003 ENSE00001337723 003 11 72319671 72319840 - 35 90 45 C T 72319695 2085 146 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCACCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608650 72608651 72608651 downstr_intron 11 1.32352941176471 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCACCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant 36 13 0.85 0.992325025538461 0.921162512769231 63 237 1 0.990829771438998 0.995414885719499 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 -0.143055032109042 0.0261759898203568 0.0631124195347281 0.0396403706392311 0.979602033913573 0.944038490632519 -0.0584395211443428 0.0513763950869796 0.109815916231322 FALSE FALSE 0 -1.404 . intron_variant&NMD_transcript_variant MODIFIER PDE2A HGNC 8777 ENST00000537631 3/5 rs370138339 1 NA T:0.0002 T:0 GCG C,T 2.584e-05 11:72608651 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 intron_variant -0.074162 0.11008 0.00861 0.077785 0.657408211827378 0.132269 0.988417592612146 TRUE NA ENSE00001337723_005 ENSE00001337723 005 11 72319671 72319840 - 35 90 45 C T 72319710 2087 131 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCAAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608665 72608666 72608666 exon -5 0.955555555555556 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCAAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant NA NA NA NA NA 355 82 1 1 1 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA 0.0631124195347281 0.0488105992002333 0.979602033913573 0.944038490632519 NA 0.0559615093674807 NA FALSE NA 0.254 -0.601 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER PDE2A HGNC 8777 ENST00000537631 3/6 1 NA TCG C,T 8.514e-06 11:72608666 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 missense_variant 1.663724 0.89382 0.1001 0.516011 0.969163581683277 0 0.988417592612146 TRUE NA ENSE00001337723_006 ENSE00001337723 006 11 72319671 72319840 - 35 90 45 G A 72319729 2088 112 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCTTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608684 72608685 72608685 exon -24 0.744444444444444 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCTTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant NA NA NA NA NA 1229 139 0.922289461694101 0.990743886339233 0.956516674016667 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA -0.0145981187711712 0.0395544855394661 0.979602033913573 0.944038490632519 NA 0.0124781833841474 NA FALSE NA 1 0.972 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER PDE2A HGNC 8777 ENST00000537631 3/6 1 NA AGG G,A 8.467e-06 11:72608685 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 synonymous_variant 1.091727 0.97394 0.71956 0.623552 0.772841500767049 0 0.988417592612146 TRUE NA ENSE00001337723_007 ENSE00001337723 007 11 72319671 72319840 - 35 90 45 C T 72319732 2089 109 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGACCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608687 72608688 72608688 exon -27 0.711111111111111 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGACCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant NA NA NA NA NA 238 16 0.947145162594662 1 0.973572581297331 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA 0.0102575821293902 0.0488105992002333 0.979602033913573 0.944038490632519 NA 0.0295340906648118 NA FALSE NA 1 4.495 rs143497019 3_prime_UTR_variant&NMD_transcript_variant MODIFIER PDE2A HGNC 8777 ENST00000537631 3/6 rs143497019 1 NA T:0 T:0.0001 GCC C,T 8.462e-06 11:72608688 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 missense_variant 5.392403 0.98769 0.91745 0.623552 0.998879240496392 0 0.988417592612146 TRUE NA ENSE00001337723_008 ENSE00001337723 008 11 72319671 72319840 - 35 90 45 A C 72319745 2090 96 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGGGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608700 72608701 72608701 exon -40 0.566666666666667 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGGGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant NA NA NA NA NA 191 765 0.997385390624675 1 0.998692695312337 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA 0.0604978101594029 0.0488105992002333 0.979602033913573 0.944038490632519 NA 0.0546542046798181 NA FALSE NA 0 -0.761 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER PDE2A HGNC 8777 ENST00000537631 3/6 1 NA CAC A,C 1.696e-05 11:72608701 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 synonymous_variant -1.651741 0.14324 0.00617 0.623552 0.407619045023217 0 0.988417592612146 TRUE 5.27888e-06 ENSE00001337723_010 ENSE00001337723 010 11 72319671 72319840 - 35 90 45 C T 72319765 2092 76 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCAACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608720 72608721 72608721 exon 31 0.344444444444444 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCAACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant NA NA NA NA NA 195 288 0.98978695245897 0.999450463317323 0.994618707888147 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA 0.0528993719936985 0.0482610625175561 0.979602033913573 0.944038490632519 NA 0.0505802172556273 NA FALSE NA 1 2.182 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER PDE2A HGNC 8777 ENST00000537631 3/6 rs376352935 1 NA T:0 T:0.0001 TCG C,T 3.426e-05 11:72608721 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 missense_variant 4.561211 0.9202 0.66254 0.623552 0.997920652504386 0 0.988417592612146 TRUE NA ENSE00001337723_013 ENSE00001337723 013 11 72319671 72319840 - 35 90 45 G A 72319793 2095 48 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGATGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608748 72608749 72608749 exon 3 0.0333333333333333 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGATGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant NA NA NA NA NA 54 81 1 1 1 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA 0.0631124195347281 0.0488105992002333 0.979602033913573 0.944038490632519 NA 0.0559615093674807 NA FALSE NA 1 1.456 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE PDE2A HGNC 8777 ENST00000537631 3/6 rs374195521 1 unknown(0) NA A:0 A:0.0001 CGT G,A 3.553e-05 11:72608749 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 missense_variant 1.124991 0.81148 0.10755 0.623552 0.70088026230697 0 0.988417592612146 TRUE 8.29197e-05 ENSE00001337723_014 ENSE00001337723 014 11 72319671 72319840 - 35 90 45 T C 72319794 2096 47 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGGCGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608749 72608750 72608750 exon 2 0.0222222222222222 TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGGCGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant NA NA NA NA NA 73 137 1 1 1 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA 0.0631124195347281 0.0488105992002333 0.979602033913573 0.944038490632519 NA 0.0559615093674807 NA FALSE NA 1 4.616 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE PDE2A HGNC 8777 ENST00000537631 3/6 1 unknown(0) NA GTC T,C 1.78e-05 11:72608750 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 missense_variant 5.42888 0.94734 0.83481 0.623552 0.944358080735237 0 0.988417592612146 TRUE NA ENSE00001337723_016 ENSE00001337723 016 11 72319671 72319840 - 35 90 45 A G 72319819 2098 22 TGGCCTGCCTGGCAAAGCCTCCCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 72608774 72608775 72608775 upstr_intron -24 -0.511111111111111 TGGCCTGCCTGGCAAAGCCTCCCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC mutant NA NA NA NA NA 230 268 1 1 1 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA 0.0631124195347281 0.0488105992002333 0.979602033913573 0.944038490632519 NA 0.0559615093674807 NA FALSE NA 0.054 1.483 . intron_variant&NMD_transcript_variant MODIFIER PDE2A HGNC 8777 ENST00000537631 2/5 1 NA GAG A,G 9.578e-06 11:72608775 PDE2A HGNC Symbol protein_coding 98450 ENSG00000186642 ENSE00003562606 intron_variant 2.206721 0.68612 0.2636 0.055872 0.839241994911333 0.944549 0.988417592612146 TRUE NA ENSE00001337723_BRK ENSE00001337723 BRK 11 72319671 72319840 - 35 90 45 A,G; T,T NA NA NA TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCTTGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGCCAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC 72608626 72608796 NA NA NA NA NA NA TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCTTGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGCCAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC TGGCCTGCCTGGCAAAGCCTCTCACTGCCCTCTCCTCTCTTCCAGGACGCCTTGCTGAGTCTGGGCTCTGTCATCGACATTTCAGGCCTGCAACGTGCTGTCAAGGAGGCCCTGTCAGCTGTGCTCCCCCGAGTGGTAGGTGCCCGCCCTTGCCCCACGCTTCCCACCCC control NA NA NA NA NA 236 1163 0.0455942017336017 0 0.0227971008668008 0.993055032109042 0.966149035718104 0.936887580465272 0.951189400799767 NA NA -0.89129337873167 -0.951189400799767 0.979602033913573 0.944038490632519 NA -0.921241389765718 NA TRUE NA NA NA NA NA NA PDE2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE2A NA NA NA ENSG00000186642 ENSE00003562606 NA NA NA NA NA NA NA 0.988417592612146 TRUE NA ENSE00001338919_000 ENSE00001338919 000 X 107553939 107554108 - 39 81 50 NA NA NA NA NA CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 NA NA NA NA NA NA CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC natural NA NA NA NA NA 2232 1675 0.987931100033408 0.99870845831341 0.993319779173409 NA NA 0.987931100033408 0.99870845831341 NA NA 0 0 NA 0.993319779173409 NA 0 NA FALSE NA NA NA NA NA NA COL4A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A6 NA NA NA ENSG00000197565 ENSE00003515098 NA NA NA NA NA NA NA 0.990988266205785 TRUE NA ENSE00001338919_001 ENSE00001338919 001 X 107553939 107554108 - 39 81 50 T C 107553954 890 155 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGGAAGACAAATAGTGGC 108310708 108310878 108310723 108310724 108310724 downstr_intron 24 1.63157894736842 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGGAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC mutant NA NA NA NA NA 354 344 1 0.969247302125302 0.984623651062651 NA NA 0.987931100033408 0.99870845831341 NA NA 0.0120688999665917 -0.0294611561881083 NA 0.993319779173409 NA -0.00869612811075832 NA FALSE NA 0.886 0.491 . intron_variant&non_coding_transcript_variant MODIFIER COL4A6 HGNC 2208 ENST00000461897 3/3 1 NA TTC T,C 1.647e-05 X:108310724 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00003515098 intron_variant 2.35325 0.96403 0.28719 0 0.804909783295676 0.52977 0.990988266205785 TRUE 5.73161e-06 ENSE00001338919_002 ENSE00001338919 002 X 107553939 107554108 - 39 81 50 G T 107553982 891 127 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGAGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 108310751 108310752 108310752 exon -5 0.950617283950617 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGAGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC mutant NA NA NA NA NA 868 338 0.998952246597899 0.996889965668748 0.997921106133324 NA NA 0.987931100033408 0.99870845831341 NA NA 0.011021146564491 -0.00181849264466216 NA 0.993319779173409 NA 0.00460132695991444 NA FALSE NA 0.819 2.327 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL4A6 HGNC 2208 ENST00000461897 3/4 1 NA CGC G,T 8.237e-06 X:108310752 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00003515098 missense_variant 2.19414 0.75554 0.69704 0 0.822334524122498 0 0.990988266205785 TRUE 5.63698e-06 ENSE00001338919_003 ENSE00001338919 003 X 107553939 107554108 - 39 81 50 G A 107554008 892 101 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGTTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 108310777 108310778 108310778 exon -31 0.62962962962963 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGTTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC mutant NA NA NA NA NA 461 446 0.92739988998791 1 0.963699944993955 NA NA 0.987931100033408 0.99870845831341 NA NA -0.0605312100454981 0.00129154168658951 NA 0.993319779173409 NA -0.0296198341794543 NA FALSE NA 0.991 0.737 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL4A6 HGNC 2208 ENST00000461897 3/4 rs377506539 1 NA AGC G,A 8.237e-05 X:108310778 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00003515098 synonymous_variant 0.001943 0.93457 0.59125 0 0.400384437109639 0 0.990988266205785 TRUE 8.98634e-05 ENSE00001338919_004 ENSE00001338919 004 X 107553939 107554108 - 39 81 50 T C 107554041 893 68 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGGAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 108310810 108310811 108310811 exon 18 0.222222222222222 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGGAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC mutant NA NA NA NA NA 111 341 1 0.978536905365593 0.989268452682796 NA NA 0.987931100033408 0.99870845831341 NA NA 0.0120688999665917 -0.0201715529478178 NA 0.993319779173409 NA -0.00405132649061307 NA FALSE NA 0.982 0.348 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL4A6 HGNC 2208 ENST00000461897 3/4 rs376833948 1 NA C:0.0003 C:0 TTC T,C 8.238e-06 X:108310811 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00003515098 synonymous_variant -0.495743 0.95903 0.54263 0 0.64926347228532 0 0.990988266205785 TRUE 5.63825e-06 ENSE00001338919_005 ENSE00001338919 005 X 107553939 107554108 - 39 81 50 G A 107554071 894 38 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCTTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 108310840 108310841 108310841 upstr_intron -13 -0.24 CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCTTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC mutant NA NA NA NA NA 376 944 0.992164033827437 0.852658373924998 0.922411203876218 NA NA 0.987931100033408 0.99870845831341 NA NA 0.00423293379402889 -0.146050084388412 NA 0.993319779173409 NA -0.0709085752971916 NA FALSE NA 0 -2.611 . intron_variant&non_coding_transcript_variant MODIFIER COL4A6 HGNC 2208 ENST00000461897 2/3 1 NA AGG G,A 8.239e-06 X:108310841 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00003515098 intron_variant -0.130849 0.10988 0.00527 0 0.328333810532346 0.0834323 0.990988266205785 TRUE 5.78466e-06 ENSE00001338919_006 ENSE00001338919 006 X 107553939 107554108 - 39 81 50 A G 107554077 895 32 CATTGCTTCTTGGTTCACATGGTTTATTAACCTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 108310846 108310847 108310847 upstr_intron -19 -0.36 CATTGCTTCTTGGTTCACATGGTTTATTAACCTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC mutant NA NA NA NA NA 696 1260 1 1 1 NA NA 0.987931100033408 0.99870845831341 NA NA 0.0120688999665917 0.00129154168658951 NA 0.993319779173409 NA 0.00668022082659059 NA FALSE NA 0 0.14 . intron_variant&non_coding_transcript_variant MODIFIER COL4A6 HGNC 2208 ENST00000461897 2/3 1 NA AAG A,G 8.24e-06 X:108310847 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00003515098 intron_variant 0.19481 0.18762 0.0189 0 0.793809783816951 0.0446948 0.990988266205785 TRUE 5.79304e-06 ENSE00001338919_007 ENSE00001338919 007 X 107553939 107554108 - 39 81 50 G A 107554091 896 18 CATTGCTTCTTGGTTCATATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 108310860 108310861 108310861 upstr_intron -33 -0.64 CATTGCTTCTTGGTTCATATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC mutant NA NA NA NA NA 1739 1015 0.996224725940815 0.996120469177241 0.996172597559028 NA NA 0.987931100033408 0.99870845831341 NA NA 0.00829362590740645 -0.00258798913616975 NA 0.993319779173409 NA 0.00285281838561835 NA FALSE NA 0.852 0.618 . intron_variant&non_coding_transcript_variant MODIFIER COL4A6 HGNC 2208 ENST00000461897 2/3 1 NA TGT G,A 1.648e-05 X:108310861 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00003515098 intron_variant 0.049534 0.15643 0.32718 0 0.628821852718494 0.0446948 0.990988266205785 TRUE 6.00666e-06 ENSE00001338919_008 ENSE00001338919 008 X 107553939 107554108 - 39 81 50 C A 107554097 897 12 CATTGCTTCTTTGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 108310866 108310867 108310867 upstr_intron -39 -0.76 CATTGCTTCTTTGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC mutant NA NA NA NA NA 503 170 1 0.994439793062755 0.997219896531377 NA NA 0.987931100033408 0.99870845831341 NA NA 0.0120688999665917 -0.0042686652506555 NA 0.993319779173409 NA 0.00390011735796808 NA FALSE NA 0.635 0.329 . intron_variant&non_coding_transcript_variant MODIFIER COL4A6 HGNC 2208 ENST00000461897 2/3 1 NA CCA C,A 1.648e-05 X:108310867 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00003515098 intron_variant 0.556352 0.94579 0.78562 0 0.705011987015745 0.132425 0.990988266205785 TRUE NA ENSE00001338919_BRK ENSE00001338919 BRK X 107553939 107554108 - 39 81 50 A,G; T,T NA NA NA CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATTTGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGACCAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC 108310708 108310878 NA NA NA NA NA NA CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATTTGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGACCAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC CATTGCTTCTTGGTTCACATGGTTTATTAACTTTTTCCTTTTTTTAATAGGGAGAGAAGTCTTATGGAAAGCCATGTGGGGGCCAGGACTGCAGTGGGAGCTGTCAGTGTTTTCCTGAGAAAGGAGCGAGAGTAAGTTGCTTATTTCATTGTTGAAAGACAAATAGTGGC control NA NA NA NA NA 320 54 0 0 0 NA NA 0.987931100033408 0.99870845831341 NA NA -0.987931100033408 -0.99870845831341 NA 0.993319779173409 NA -0.993319779173409 NA TRUE NA NA NA NA NA NA COL4A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A6 NA NA NA ENSG00000197565 ENSE00003515098 NA NA NA NA NA NA NA 0.990988266205785 TRUE NA ENSE00001339922_000 ENSE00001339922 000 1 145601497 145601666 - 33 93 44 NA NA NA NA NA GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 NA NA NA NA NA NA GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC natural NA NA NA NA NA 2936 1494 0.840719219143074 0.931442264334619 0.886080741738847 NA NA 0.840719219143074 0.931442264334619 NA NA 0 0 NA 0.886080741738847 NA 0 NA FALSE NA NA NA NA NA NA POLR3C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA ENSG00000186141 NA NA NA NA NA NA NA NA 8.6570108559178e-06 FALSE NA ENSE00001339922_001 ENSE00001339922 001 1 145601497 145601666 - 33 93 44 C T 145601527 3340 140 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTAAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833584 145833585 145833585 downstr_intron 3 1.09375 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTAAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 507 401 0.930534308113625 0.997884378988199 0.964209343550912 NA NA 0.840719219143074 0.931442264334619 NA NA 0.089815088970551 0.0664421146535799 NA 0.886080741738847 NA 0.0781286018120654 NA FALSE NA 1 0.729 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 1 NA TCA C,T 1.647e-05 1:145833583 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA splice_donor_variant 1.540791 0.81946 0.62584 0.283894 0.710271123776288 0.465669 8.6570108559178e-06 FALSE 4.06289e-06 ENSE00001339922_002 ENSE00001339922 002 1 145601497 145601666 - 33 93 44 T C 145601534 3341 133 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAGTGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833577 145833578 145833578 exon -5 0.956989247311828 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAGTGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 159 21 0.991010529136159 0.8 0.895505264568079 NA NA 0.840719219143074 0.931442264334619 NA NA 0.150291309993084 -0.131442264334619 NA 0.886080741738847 NA 0.00942452282923267 NA FALSE NA 1 5.798 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 1 NA ATT T,C 9.884e-05 1:145833576 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA synonymous_variant 1.447361 0.94156 0.95947 0.706548 0.980114502854881 0 8.6570108559178e-06 FALSE 8.12559e-05 ENSE00001339922_004 ENSE00001339922 004 1 145601497 145601666 - 33 93 44 G A 145601552 3343 115 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCATCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833559 145833560 145833560 exon -23 0.763440860215054 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCATCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 11 380 1 0.993971564956187 0.996985782478093 NA NA 0.840719219143074 0.931442264334619 NA NA 0.159280780856926 0.0625293006215677 NA 0.886080741738847 NA 0.110905040739247 NA FALSE NA 1 9.357 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 rs587609843 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGT G,A 0.0001483 1:145833558 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA synonymous_variant 6.697781 0.96768 0.98449 0.706548 0.999177528240578 0 8.6570108559178e-06 FALSE 0.000150299 ENSE00001339922_007 ENSE00001339922 007 1 145601497 145601666 - 33 93 44 C T 145601585 3346 82 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAATGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833526 145833527 145833527 exon 38 0.408602150537634 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAATGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 423 14 0.958754586394031 1 0.979377293197015 NA NA 0.840719219143074 0.931442264334619 NA NA 0.118035367250956 0.0685577356653811 NA 0.886080741738847 NA 0.0932965514581687 NA FALSE NA 1 7.42 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:145833525 POLR3C HGNC Symbol protein_coding 18417 NA NA synonymous_variant 6.83124 0.96708 0.97709 0.706548 0.996966174004985 0 8.6570108559178e-06 FALSE 8.12394e-06 ENSE00001339922_008 ENSE00001339922 008 1 145601497 145601666 - 33 93 44 C A 145601585 3347 82 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGATTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833526 145833527 145833527 exon 38 0.408602150537634 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGATTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 259 317 0.997429619130821 0.999500769594891 0.998465194362856 NA NA 0.840719219143074 0.931442264334619 NA NA 0.156710399987746 0.0680585052602725 NA 0.886080741738847 NA 0.112384452624009 NA FALSE NA 1 7.42 NA NA NA POLR3C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA ENSG00000186141 NA synonymous_variant 7.513917 0.96799 0.98065 0.706548 0.995985778133991 0 8.6570108559178e-06 FALSE 4.06197e-06 ENSE00001339922_009 ENSE00001339922 009 1 145601497 145601666 - 33 93 44 A G 145601597 3348 70 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCACGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833514 145833515 145833515 exon 26 0.279569892473118 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCACGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 395 36 0.999611827192006 0.995581217394881 0.997596522293443 NA NA 0.840719219143074 0.931442264334619 NA NA 0.158892608048931 0.0641389530602618 NA 0.886080741738847 NA 0.111515780554597 NA FALSE NA 1 8.857 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 1 NA CAT A,G 8.236e-06 1:145833513 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA synonymous_variant 5.566656 0.96016 0.98336 0.706548 0.993124787058993 0 8.6570108559178e-06 FALSE 4.06177e-06 ENSE00001339922_010 ENSE00001339922 010 1 145601497 145601666 - 33 93 44 T C 145601598 3349 69 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCGTGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833513 145833514 145833514 exon 25 0.268817204301075 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCGTGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 15 23 1 1 1 NA NA 0.840719219143074 0.931442264334619 NA NA 0.159280780856926 0.0685577356653811 NA 0.886080741738847 NA 0.113919258261153 NA FALSE NA 1 5.906 rs143369995 downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 rs143369995 1 NA C:0 C:0.0001 ATG T,C 1.647e-05 1:145833512 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA missense_variant 3.452867 0.95919 0.96566 0.706548 0.996275011261376 0 8.6570108559178e-06 FALSE 8.12315e-06 ENSE00001339922_012 ENSE00001339922 012 1 145601497 145601666 - 33 93 44 G C 145601604 3351 63 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGGGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833507 145833508 145833508 exon 19 0.204301075268817 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGGGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 1060 405 1 0.999609300421727 0.999804650210864 NA NA 0.840719219143074 0.931442264334619 NA NA 0.159280780856926 0.0681670360871083 NA 0.886080741738847 NA 0.113723908472017 NA FALSE NA 1 1.285 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 1 NA CGC G,C 8.236e-06 1:145833506 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA missense_variant 6.151682 0.90767 0.89558 0.706548 0.997213372559567 0 8.6570108559178e-06 FALSE 1.21866e-05 ENSE00001339922_013 ENSE00001339922 013 1 145601497 145601666 - 33 93 44 G A 145601614 3352 53 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGTGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833497 145833498 145833498 exon 9 0.0967741935483871 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGTGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 47 577 0.996723327093742 1 0.998361663546871 NA NA 0.840719219143074 0.931442264334619 NA NA 0.156004107950668 0.0685577356653811 NA 0.886080741738847 NA 0.112280921808024 NA FALSE NA 0.152 -0.214 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 COSM895236 1 NA CGC G,A 5.765e-05 1:145833496 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA missense_variant 1.665525 0.76061 0.57456 0.706548 0.730600575472037 0 8.6570108559178e-06 FALSE 4.46842e-05 ENSE00001339922_014 ENSE00001339922 014 1 145601497 145601666 - 33 93 44 T C 145601616 3353 51 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCGGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833495 145833496 145833496 exon 7 0.0752688172043011 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCGGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 171 393 1 0.993656409175936 0.996828204587968 NA NA 0.840719219143074 0.931442264334619 NA NA 0.159280780856926 0.0622141448413169 NA 0.886080741738847 NA 0.110747462849121 NA FALSE NA 1 4.764 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 1 NA CTG T,C 8.236e-06 1:145833494 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA missense_variant 1.10692 0.92949 0.93504 0.706548 0.266074290843772 0 8.6570108559178e-06 FALSE 8.12381e-06 ENSE00001339922_015 ENSE00001339922 015 1 145601497 145601666 - 33 93 44 C A 145601623 3354 44 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACATACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833488 145833489 145833489 upstr_intron -1 0 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACATACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant 40 52 0 0 0 NA NA NA NA NA NA NA 0.840719219143074 0.931442264334619 NA NA NA NA NA 0.886080741738847 NA NA NA NA NA 1 5.703 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 1 NA TCT C,A 8.236e-06 1:145833487 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA splice_region_variant 4.95937 0.94282 0.96403 0.283894 0.992492203931379 0.877232 8.6570108559178e-06 FALSE 4.06246e-06 ENSE00001339922_016 ENSE00001339922 016 1 145601497 145601666 - 33 93 44 T A 145601624 3355 43 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACTGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833487 145833488 145833488 upstr_intron -2 -0.0227272727272727 GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACTGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 559 2398 0.00191079257231828 0 0.000955396286159139 NA NA 0.840719219143074 0.931442264334619 NA NA -0.838808426570756 -0.931442264334619 NA 0.886080741738847 NA -0.885125345452688 NA TRUE NA 1 7.605 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 1 NA CTG T,A 8.236e-06 1:145833486 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA splice_region_variant 5.459174 0.95981 0.97761 0.160901 0.994773249512959 0.97889 8.6570108559178e-06 FALSE 4.06256e-06 ENSE00001339922_019 ENSE00001339922 019 1 145601497 145601666 - 33 93 44 A G 145601655 3358 12 GGGCAGCACTGCGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833456 145833457 145833457 upstr_intron -33 -0.727272727272727 GGGCAGCACTGCGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 132 348 1 0.999545268024499 0.99977263401225 NA NA 0.840719219143074 0.931442264334619 NA NA 0.159280780856926 0.0681030036898803 NA 0.886080741738847 NA 0.113691892273403 NA FALSE NA 0 0.121 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 rs371636168 1 NA G:0 G:0.0001 CAC G,G 4.942e-05 1:145833455 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA intron_variant -0.217008 0.09145 0.12181 0.075938 0.355777422355476 0.2353 8.6570108559178e-06 FALSE 8.93967e-05 ENSE00001339922_020 ENSE00001339922 020 1 145601497 145601666 - 33 93 44 C T 145601656 3359 11 GGGCAGCACTATGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC 145833445 145833615 145833455 145833456 145833456 upstr_intron -34 -0.75 GGGCAGCACTATGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC GGGCAGCACTGTGATTTCTGAATTCTAGTTTACTTTTCAAACAGACAAGCAGCGAGATTGTGCGAACCATGCTCCGAATGAGTGAGATTACCACTTCCTCTAGTGCTCCCTTCACCCAGCCATTGTCTTCCAATGAGGTGAGTTTCATGTTCTTGCACTAACTTTCTGAC mutant NA NA NA NA NA 4287 329 0.998640078055162 0.998555131558824 0.998597604806993 NA NA 0.840719219143074 0.931442264334619 NA NA 0.157920858912087 0.0671128672242056 NA 0.886080741738847 NA 0.112516863068146 NA FALSE NA 0 -0.375 . downstream_gene_variant MODIFIER POLR3C HGNC 30076 ENST00000466003 1 NA ACA C,T 1.647e-05 1:145833454 POLR3C HGNC Symbol protein_coding 18417 ENSG00000186141 NA intron_variant 0.174162 0.212 0.1704 0.075938 0.627059893510033 0.237167 8.6570108559178e-06 FALSE 4.06481e-06 ENSE00001344069_000 ENSE00001344069 000 10 25160880 25161049 - 47 66 57 NA NA NA NA NA TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 NA NA NA NA NA NA TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT natural NA NA NA NA NA 3587 2399 0.932805554676217 0.990383902172312 0.961594728424265 NA NA 0.932805554676217 0.990383902172312 NA NA 0 0 NA 0.961594728424265 NA 0 NA FALSE NA NA NA NA NA NA RP11-129O7.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRTFDC1 NA NA NA ENSG00000099256 ENSE00001344069 NA NA NA NA NA NA NA 5.27828246084182e-09 FALSE NA ENSE00001344069_001 ENSE00001344069 001 10 25160880 25161049 - 47 66 57 C T 25160894 557 156 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTAAGGTCTGGGGGCAT 24871950 24872120 24871964 24871965 24871965 downstr_intron 33 1.71739130434783 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTAAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 522 450 1 1 1 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00961609782768769 NA 0.961594728424265 NA 0.0384052715757353 NA FALSE NA 0 0.43 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA TCA C,T 8.236e-06 10:24871965 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 0.89616 0.91184 0.14226 0.053691 0.629853033746263 0.132019 5.27828246084182e-09 FALSE 4.09072e-06 ENSE00001344069_002 ENSE00001344069 002 10 25160880 25161049 - 47 66 57 T A 25160897 558 153 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCTTTGAGGTCTGGGGGCAT 24871950 24872120 24871967 24871968 24871968 downstr_intron 30 1.65217391304348 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCTTTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 194 1078 0.980842413408612 0.999610718002891 0.990226565705752 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0480368587323952 0.00922681583057849 NA 0.961594728424265 NA 0.0286318372814868 NA FALSE NA 0 -0.388 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA ATG T,A 1.647e-05 10:24871968 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 0.232934 0.24982 0.07317 0.053691 0.644647862940379 0.132019 5.27828246084182e-09 FALSE 4.08747e-06 ENSE00001344069_003 ENSE00001344069 003 10 25160880 25161049 - 47 66 57 G T 25160907 559 143 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGATCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24871977 24871978 24871978 downstr_intron 20 1.43478260869565 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGATCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 51 95 1 0.989313331099408 0.994656665549704 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 -0.00107057107290409 NA 0.961594728424265 NA 0.0330619371254394 NA FALSE NA 0 0.242 rs112511699 downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 rs112511699 1 T:0.0060 T:0.0212 T:0.0029 NA T:0 T:0 T:0 T:0.0202 T:0.0002 AGC G,T 0.002092 10:24871978 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 0.382356 0.19316 0.05745 0.053691 0.697830347754045 0.119213 5.27828246084182e-09 FALSE 0.00163766 ENSE00001344069_004 ENSE00001344069 004 10 25160880 25161049 - 47 66 57 T C 25160918 560 132 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCGTGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24871988 24871989 24871989 downstr_intron 9 1.19565217391304 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCGTGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 238 371 1 0.993041165685005 0.996520582842502 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00265726351269224 NA 0.961594728424265 NA 0.0349258544182375 NA FALSE NA 0.004 1.042 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA ATG T,C 8.236e-06 10:24871989 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 1.724671 0.19886 0.05601 0.078448 0.566130206535799 0.295664 5.27828246084182e-09 FALSE 8.141e-06 ENSE00001344069_005 ENSE00001344069 005 10 25160880 25161049 - 47 66 57 A G 25160921 561 129 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGCTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24871991 24871992 24871992 downstr_intron 6 1.1304347826087 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGCTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 76 1087 1 0.996932232589829 0.998466116294915 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.0065483304175169 NA 0.961594728424265 NA 0.0368713878706499 NA FALSE NA 0.971 2.057 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 rs549651854 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAC A,G 8.236e-06 10:24871992 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 splice_region_variant 1.66896 0.83453 0.65629 0.078448 0.824212183799247 0.514349 5.27828246084182e-09 FALSE 4.06954e-06 ENSE00001344069_006 ENSE00001344069 006 10 25160880 25161049 - 47 66 57 G A 25160934 562 116 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGTTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872004 24872005 24872005 exon -8 0.893939393939394 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGTTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 1157 191 0.99770108858793 1 0.998850544293965 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0648955339117124 0.00961609782768769 NA 0.961594728424265 NA 0.0372558158697001 NA FALSE NA 1 3.912 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA AGC G,A 8.236e-06 10:24872005 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 missense_variant 3.743702 0.98364 0.90909 0.706298 0.997036555341805 0 5.27828246084182e-09 FALSE 8.13994e-06 ENSE00001344069_010 ENSE00001344069 010 10 25160880 25161049 - 47 66 57 T C 25160949 566 101 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGGTCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872019 24872020 24872020 exon -23 0.666666666666667 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGGTCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 485 276 0.998462567088442 0.993683691749712 0.996073129419077 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0656570124122247 0.00329978957739951 NA 0.961594728424265 NA 0.0344784009948121 NA FALSE NA 0.999 1.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:24872020 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 missense_variant 5.388879 0.95929 0.66925 0.615465 0.994497396288107 0 5.27828246084182e-09 FALSE 0.000244105 ENSE00001344069_011 ENSE00001344069 011 10 25160880 25161049 - 47 66 57 T A 25160949 567 101 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGTTCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872019 24872020 24872020 exon -23 0.666666666666667 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGTTCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant 43 143 0 0 0 25 68 1 0.99539328937436 0.99769664468718 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00500938720204769 NA 0.961594728424265 NA 0.0361019162629153 NA FALSE NA 0.999 1.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRTFDC1 NA NA NA ENSG00000099256 ENSE00001344069 missense_variant 5.705468 0.96029 0.7322 0.615465 0.991150017366218 0 5.27828246084182e-09 FALSE 8.13683e-06 ENSE00001344069_012 ENSE00001344069 012 10 25160880 25161049 - 47 66 57 G T 25160954 568 96 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGAGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872024 24872025 24872025 exon -28 0.590909090909091 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGAGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 308 221 1 1 1 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00961609782768769 NA 0.961594728424265 NA 0.0384052715757353 NA FALSE NA 0.002 -0.812 NA NA NA RP11-129O7.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:24872025 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 synonymous_variant 0.524593 0.12775 0.01474 0.615465 0.86260852442109 0 5.27828246084182e-09 FALSE 4.06987e-06 ENSE00001344069_015 ENSE00001344069 015 10 25160880 25161049 - 47 66 57 G A 25160960 571 90 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATTGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872030 24872031 24872031 exon 33 0.5 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATTGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 252 574 1 0.999734354682986 0.999867177341493 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00935045251067324 NA 0.961594728424265 NA 0.038272448917228 NA FALSE NA 0.007 -1.889 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 COSM3867035 1 NA CGA G,A 2.471e-05 10:24872031 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 synonymous_variant 1.743805 0.36108 0.00585 0.706298 0.852767647436644 0 5.27828246084182e-09 FALSE 3.25579e-05 ENSE00001344069_016 ENSE00001344069 016 10 25160880 25161049 - 47 66 57 T C 25160962 572 88 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAGTCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872032 24872033 24872033 exon 31 0.46969696969697 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAGTCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 684 217 0.999336290177996 1 0.999668145088998 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0665307355017789 0.00961609782768769 NA 0.961594728424265 NA 0.0380734166647333 NA FALSE NA 0.971 2.194 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA ATT T,C 8.236e-06 10:24872033 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 missense_variant 1.231491 0.55816 0.4747 0.706298 0.979945891050162 0 5.27828246084182e-09 FALSE 2.03454e-05 ENSE00001344069_017 ENSE00001344069 017 10 25160880 25161049 - 47 66 57 C T 25160966 573 84 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAAATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872036 24872037 24872037 exon 27 0.409090909090909 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAAATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 378 122 0.990734859310994 0.998701448442111 0.994718153876552 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0579293046347766 0.00831754626979864 NA 0.961594728424265 NA 0.0331234254522876 NA FALSE NA 1 1.446 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 rs557447887 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C,T 8.236e-06 10:24872037 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 synonymous_variant 0.983622 0.96037 0.7189 0.706298 0.869149211570509 0 5.27828246084182e-09 FALSE 4.06924e-06 ENSE00001344069_018 ENSE00001344069 018 10 25160880 25161049 - 47 66 57 C T 25160974 574 76 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTAAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872044 24872045 24872045 exon 19 0.287878787878788 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTAAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 768 127 1 1 1 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00961609782768769 NA 0.961594728424265 NA 0.0384052715757353 NA FALSE NA 0.905 1.372 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA TCA C,T 8.236e-06 10:24872045 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 missense_variant 3.027954 0.90727 0.57163 0.706298 0.992187542049977 0 5.27828246084182e-09 FALSE 1.62986e-05 ENSE00001344069_019 ENSE00001344069 019 10 25160880 25161049 - 47 66 57 A G 25160975 575 75 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGCGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872045 24872046 24872046 exon 18 0.272727272727273 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGCGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 514 1177 0.997005102256065 0.99983323453134 0.998419168393703 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0641995475798476 0.00944933235902812 NA 0.961594728424265 NA 0.0368244399694378 NA FALSE NA 0 -1.641 rs142405158 downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 rs142405158&COSM3675704 1 G:0.0010 G:0.0038 G:0 NA G:0 G:0 G:0 G:0.0041 G:0 CAC A,G 0.0005436 10:24872046 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 synonymous_variant -0.020935 0.10026 0.00474 0.706298 0.619908599743628 0 5.27828246084182e-09 FALSE 0.000354509 ENSE00001344069_020 ENSE00001344069 020 10 25160880 25161049 - 47 66 57 A C 25160983 576 67 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGGCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872053 24872054 24872054 exon 10 0.151515151515152 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGGCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 192 475 1 0.902731658457266 0.951365829228633 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 -0.0876522437150459 NA 0.961594728424265 NA -0.0102288991956315 NA FALSE NA 1 2.751 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA GAC A,C 1.647e-05 10:24872054 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 missense_variant 2.298225 0.96847 0.80105 0.706298 0.99189726971681 0 5.27828246084182e-09 FALSE 1.22422e-05 ENSE00001344069_021 ENSE00001344069 021 10 25160880 25161049 - 47 66 57 G A 25160995 577 55 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGTAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872065 24872066 24872066 upstr_intron -3 -0.0350877192982456 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGTAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 182 69 1 1 1 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00961609782768769 NA 0.961594728424265 NA 0.0384052715757353 NA FALSE NA 0.005 -1.582 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA TGC G,A 8.236e-06 10:24872066 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 splice_region_variant 0.347407 0.14669 0.01023 0.053691 0.887862284372819 0.25426 5.27828246084182e-09 FALSE NA ENSE00001344069_022 ENSE00001344069 022 10 25160880 25161049 - 47 66 57 G A 25161003 578 47 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTTTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872073 24872074 24872074 upstr_intron -11 -0.175438596491228 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTTTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 107 159 1 0.981661652890124 0.990830826445062 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 -0.00872224928218868 NA 0.961594728424265 NA 0.0292360980207971 NA FALSE NA 0 -0.037 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA AGA G,A 2.471e-05 10:24872074 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 0.239065 0.14182 0.0105 0.053691 0.749575539867479 0.215666 5.27828246084182e-09 FALSE NA ENSE00001344069_023 ENSE00001344069 023 10 25160880 25161049 - 47 66 57 A T 25161004 579 46 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTACTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872074 24872075 24872075 upstr_intron -12 -0.192982456140351 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTACTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 176 639 1 1 1 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00961609782768769 NA 0.961594728424265 NA 0.0384052715757353 NA FALSE NA 0 -2.004 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA GAA A,T 8.237e-06 10:24872075 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant -0.551272 0.15832 0.02152 0.053691 0.522083115706928 0.153955 5.27828246084182e-09 FALSE 4.12872e-06 ENSE00001344069_024 ENSE00001344069 024 10 25160880 25161049 - 47 66 57 A G 25161007 580 43 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTCCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872077 24872078 24872078 upstr_intron -15 -0.245614035087719 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTCCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 121 69 1 1 1 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00961609782768769 NA 0.961594728424265 NA 0.0384052715757353 NA FALSE NA 0 -1.168 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA GAA A,G 1.647e-05 10:24872078 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant -0.490166 0.15826 0.02414 0.053691 0.293136038482966 0.153955 5.27828246084182e-09 FALSE 2.52672e-05 ENSE00001344069_025 ENSE00001344069 025 10 25160880 25161049 - 47 66 57 A G 25161011 581 39 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTCTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872081 24872082 24872082 upstr_intron -19 -0.315789473684211 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTCTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 430 971 1 0.911556096217146 0.955778048108573 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 -0.0788278059551665 NA 0.961594728424265 NA -0.00581668031569182 NA FALSE NA 0.978 3.627 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA AAA A,G 8.237e-06 10:24872082 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant -0.290055 0.22294 0.30534 0.053691 0.514108442543775 0.2168 5.27828246084182e-09 FALSE 8.26624e-06 ENSE00001344069_026 ENSE00001344069 026 10 25160880 25161049 - 47 66 57 G A 25161015 582 35 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCTTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872085 24872086 24872086 upstr_intron -23 -0.385964912280702 TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCTTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 563 72 0.996717477921055 0.942316870357422 0.969517174139239 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0639119232448382 -0.0480670318148904 NA 0.961594728424265 NA 0.00792244571497391 NA FALSE NA 0 -1.708 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 rs370173229 1 NA A:0.0005 A:0 AGG G,A 8.237e-05 10:24872086 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 0.213282 0.15375 0.00594 0.053691 0.638033208408471 0.153955 5.27828246084182e-09 FALSE 5.80725e-05 ENSE00001344069_027 ENSE00001344069 027 10 25160880 25161049 - 47 66 57 A G 25161023 583 27 TTTAAAGGTTTTCTTGTGCGGTAAAACTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872093 24872094 24872094 upstr_intron -31 -0.526315789473684 TTTAAAGGTTTTCTTGTGCGGTAAAACTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant 17 11 0.977592549852883 1 0.988796274926442 270 68 0.885902418045775 0.997095444332554 0.941498931189165 NA NA 0.932805554676217 0.990383902172312 NA NA -0.0469031366304418 0.00671154216024217 NA 0.961594728424265 NA -0.0200957972350998 NA FALSE NA 0 0.071 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA AAT A,G 1.647e-05 10:24872094 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 0.262034 0.20503 0.04589 0.053691 0.48289716268216 0.157997 5.27828246084182e-09 FALSE 1.6684e-05 ENSE00001344069_029 ENSE00001344069 029 10 25160880 25161049 - 47 66 57 C T 25161030 585 20 TTTAAAGGTTTTCTTGTGCAGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872100 24872101 24872101 upstr_intron -38 -0.649122807017544 TTTAAAGGTTTTCTTGTGCAGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 4653 446 0.988980465632073 0.987915281473991 0.988447873553032 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0561749109558554 -0.00246862069832154 NA 0.961594728424265 NA 0.0268531451287669 NA FALSE NA 0.001 0.565 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 rs536740030 1 T:0.0012 T:0 T:0 NA T:0.006 T:0 T:0 CCG C,T 4.942e-05 10:24872101 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 0.263984 0.11149 0.00018 0.053691 0.61132099688736 0.157997 5.27828246084182e-09 FALSE 5.87944e-05 ENSE00001344069_031 ENSE00001344069 031 10 25160880 25161049 - 47 66 57 A T 25161039 587 11 TTTAAAGGTTATCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 24872109 24872110 24872110 upstr_intron -47 -0.807017543859649 TTTAAAGGTTATCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT mutant NA NA NA NA NA 138 92 1 1 1 NA NA 0.932805554676217 0.990383902172312 NA NA 0.0671944453237828 0.00961609782768769 NA 0.961594728424265 NA 0.0384052715757353 NA FALSE NA 0.979 1.31 . downstream_gene_variant MODIFIER RP11-129O7.2 Clone_based_vega_gene NA ENST00000446973 1 NA AAA A,T 4.118e-05 10:24872110 PRTFDC1 HGNC Symbol protein_coding 103997 ENSG00000099256 ENSE00001344069 intron_variant 0.059603 0.49646 0.74524 0.053691 0.682070266135741 0.157997 5.27828246084182e-09 FALSE 2.54048e-05 ENSE00001344069_BRK ENSE00001344069 BRK 10 25160880 25161049 - 47 66 57 A,G; T,T NA NA NA TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCTTAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGCCTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT 24871950 24872120 NA NA NA NA NA NA TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCTTAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGCCTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT TTTAAAGGTTTTCTTGTGCGGTAAAATTGTCTCCCTTTTTTTTCTTCTTTTTTGCAGAATGACCAGTCCATGGGTGAGATGCAGATAATCGGAGGCGATGATCTTTCAACGCTGGCTGGAAAGGTTTGTTCATGTAACTGTGCTCAGACCGCATTGAGGTCTGGGGGCAT control 68 44 0 0 0 NA NA NA NA NA NA NA 0.932805554676217 0.990383902172312 NA NA NA NA NA 0.961594728424265 NA NA NA NA NA NA NA NA NA NA RP11-129O7.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRTFDC1 NA NA NA ENSG00000099256 ENSE00001344069 NA NA NA NA NA NA NA 5.27828246084182e-09 FALSE NA ENSE00001344179_000 ENSE00001344179 000 17 76082536 76082705 + 48 84 38 NA NA NA NA NA TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 NA NA NA NA NA NA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA natural NA NA NA NA NA 2708 5118 0.967887790514896 0.957516989982932 0.962702390248914 NA NA 0.967887790514896 0.957516989982932 NA NA 0 0 NA 0.962702390248914 NA 0 NA FALSE NA NA NA NA NA NA TNRC6C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNRC6C NA NA NA ENSG00000078687 ENSE00001344179 NA NA NA NA NA NA NA 0.999997823984353 TRUE NA ENSE00001344179_001 ENSE00001344179 001 17 76082536 76082705 + 48 84 38 A G 76082558 3182 23 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAAACAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086476 78086477 78086477 upstr_intron -26 -0.520833333333333 ACTTACACTTAATTATCATACTGTTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 2336 764 0.971807250532088 0.996378717107039 0.984092983819563 NA NA 0.967887790514896 0.957516989982932 NA NA 0.00391946001719168 0.038861727124107 NA 0.962702390248914 NA 0.0213905935706493 NA FALSE NA 0 -2.101 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA TAT A,G 8.273e-06 17:78086477 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 intron_variant -0.030171 0.17699 0.01477 0.106106 0.443412293314827 0.046875 0.999997823984353 TRUE 8.17154e-06 ENSE00001344179_002 ENSE00001344179 002 17 76082536 76082705 + 48 84 38 T A 76082559 3183 24 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAATTAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086477 78086478 78086478 upstr_intron -25 -0.5 ACTTACACTTAATTATCATACTAATTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 812 201 0.979633693363155 1 0.989816846681578 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0117459028482587 0.0424830100170684 NA 0.962702390248914 NA 0.0271144564326636 NA FALSE NA 0.001 1.129 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA ATT T,A 8.272e-06 17:78086478 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 intron_variant 0.211697 0.18982 0.09826 0.106106 0.767099719235426 0.046875 0.999997823984353 TRUE 4.08233e-06 ENSE00001344179_003 ENSE00001344179 003 17 76082536 76082705 + 48 84 38 T G 76082562 3184 27 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTCAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086480 78086481 78086481 upstr_intron -22 -0.4375 ACTTACACTTAATTATCATACTATTTGAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 517 188 1 0.999157830874254 0.999578915437127 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0321122094851037 0.0416408408913223 NA 0.962702390248914 NA 0.036876525188213 NA FALSE NA 0 -0.601 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA TTA T,G 8.272e-06 17:78086481 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 intron_variant 0.070307 0.15141 0.04198 0.106106 0.700401606520217 0.046875 0.999997823984353 TRUE 1.22276e-05 ENSE00001344179_004 ENSE00001344179 004 17 76082536 76082705 + 48 84 38 C T 76082570 3185 35 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACAAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086488 78086489 78086489 upstr_intron -14 -0.270833333333333 ACTTACACTTAATTATCATACTATTTTAACTCTTTGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 1034 444 0.999040859834928 0.99922482813353 0.999132843984229 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0311530693200313 0.0417078381505988 NA 0.962702390248914 NA 0.036430453735315 NA FALSE NA 0 -0.145 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA TCG C,T 4.963e-05 17:78086489 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 intron_variant 0.317533 0.24411 0.0098 0.106106 0.627178192768183 0.081678 0.999997823984353 TRUE 4.4726e-05 ENSE00001344179_005 ENSE00001344179 005 17 76082536 76082705 + 48 84 38 G A 76082571 3186 36 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAATGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086489 78086490 78086490 upstr_intron -13 -0.25 ACTTACACTTAATTATCATACTATTTTAACTCTTCATTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 1817 54 0.997703561272649 0.99705987451014 0.997381717891394 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0298157707577527 0.039542884527208 NA 0.962702390248914 NA 0.0346793276424803 NA FALSE NA 0 -0.827 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA CGT G,A 8.271e-06 17:78086490 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 intron_variant 0.061628 0.2269 0.07143 0.106106 0.651369180922284 0.0803307 0.999997823984353 TRUE 2.84507e-05 ENSE00001344179_006 ENSE00001344179 006 17 76082536 76082705 + 48 84 38 C G 76082574 3187 39 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACACAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086492 78086493 78086493 upstr_intron -10 -0.1875 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTGTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 1434 651 0.999135854654041 0.985527827626764 0.992331841140403 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0312480641391446 0.0280108376438327 NA 0.962702390248914 NA 0.0296294508914887 NA FALSE NA 0 0.028 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA TCT C,G 8.271e-06 17:78086493 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 intron_variant -0.012877 0.25335 0.03988 0.106106 0.543354359505524 0.046875 0.999997823984353 TRUE 4.06352e-06 ENSE00001344179_007 ENSE00001344179 007 17 76082536 76082705 + 48 84 38 C T 76082585 3188 50 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATACCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086503 78086504 78086504 exon 2 0.0238095238095238 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGTATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 707 731 0.9971123557764 0.999110017756006 0.998111186766203 NA NA 0.967887790514896 0.957516989982932 NA NA 0.029224565261504 0.0415930277730749 NA 0.962702390248914 NA 0.0354087965172895 NA FALSE NA 1 5.54 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA GCA C,T 1.654e-05 17:78086504 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 missense_variant 3.889513 0.99437 0.97382 0.732398 0.99925853800554 0 0.999997823984353 TRUE 1.21864e-05 ENSE00001344179_008 ENSE00001344179 008 17 76082536 76082705 + 48 84 38 A G 76082586 3189 51 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTACGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086504 78086505 78086505 exon 3 0.0357142857142857 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCGTACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 57 632 0.982952074696407 0.997686500604357 0.990319287650382 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0150642841815106 0.0401695106214253 NA 0.962702390248914 NA 0.0276168974014679 NA FALSE NA 0.024 -0.886 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 rs372840738 1 NA G:0.0003 G:0 CAT A,G 1.654e-05 17:78086505 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 splice_region_variant 1.237842 0.47351 0.05063 0.732398 0.774263049263474 0 0.999997823984353 TRUE 0.000101544 ENSE00001344179_010 ENSE00001344179 010 17 76082536 76082705 + 48 84 38 A G 76082592 3191 57 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGCTGGTATGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086510 78086511 78086511 exon 9 0.107142857142857 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAGCGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant 72 71 0.85 0.894652841458079 0.87232642072904 14 315 1 0.992802455260842 0.996401227630421 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0321122094851037 0.0352854652779103 NA 0.962702390248914 NA 0.033698837381507 NA FALSE NA 1 4.463 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA AAC A,G 1.654e-05 17:78086511 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 synonymous_variant 0.593522 0.98692 0.87785 0.732398 0.737793401837297 0 0.999997823984353 TRUE 8.12321e-06 ENSE00001344179_011 ENSE00001344179 011 17 76082536 76082705 + 48 84 38 G A 76082594 3192 59 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAATGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086512 78086513 78086513 exon 11 0.130952380952381 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACATTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 586 1033 1 0.998849686298341 0.99942484314917 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0321122094851037 0.0413326963154094 NA 0.962702390248914 NA 0.0367224529002566 NA FALSE NA 1 9.183 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA CGT G,A 8.268e-06 17:78086513 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 missense_variant 7.898439 0.99451 0.99107 0.732398 0.999398475766081 0 0.999997823984353 TRUE 1.21854e-05 ENSE00001344179_012 ENSE00001344179 012 17 76082536 76082705 + 48 84 38 A T 76082614 3193 79 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACAACTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086532 78086533 78086533 exon 31 0.369047619047619 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGTTGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 1048 949 0.996152937522342 0.815352152232546 0.905752544877444 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0282651470074459 -0.142164837750386 NA 0.962702390248914 NA -0.0569498453714699 NA FALSE NA 1 6.896 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA GAT A,T 1.653e-05 17:78086533 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 missense_variant 2.588164 0.99267 0.9831 0.706548 0.959208217318943 0 0.999997823984353 TRUE 8.12196e-06 ENSE00001344179_014 ENSE00001344179 014 17 76082536 76082705 + 48 84 38 G C 76082637 3195 102 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGAGACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086555 78086556 78086556 exon -31 0.642857142857143 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTCTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 410 19 0.989750941083863 1 0.994875470541932 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0218631505689671 0.0424830100170684 NA 0.962702390248914 NA 0.0321730802930178 NA FALSE NA 1 1.817 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 1 NA TGT G,C 8.266e-06 17:78086556 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 synonymous_variant 0.81224 0.97878 0.84508 0.706548 0.763174864896849 0 0.999997823984353 TRUE 4.06128e-06 ENSE00001344179_015 ENSE00001344179 015 17 76082536 76082705 + 48 84 38 C T 76082640 3196 105 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCAGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086558 78086559 78086559 exon -28 0.678571428571429 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCTGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 433 1247 0.96294006928004 0.995577433302838 0.979258751291439 NA NA 0.967887790514896 0.957516989982932 NA NA -0.00494772123485621 0.0380604433199068 NA 0.962702390248914 NA 0.0165563610425253 NA FALSE NA 1 1.153 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 COSM3932750&COSM3932749 1 NA CCG C,T 2.48e-05 17:78086559 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 synonymous_variant 2.630535 0.98688 0.8875 0.706548 0.782728791539224 0 0.999997823984353 TRUE 4.46824e-05 ENSE00001344179_016 ENSE00001344179 016 17 76082536 76082705 + 48 84 38 A G 76082670 3197 135 TATAGCTCATGACAAAAATCAATCTGGGTAGCACCCACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086588 78086589 78086589 downstr_intron 3 1.08108108108108 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTGGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 128 299 1 1 1 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0321122094851037 0.0424830100170684 NA 0.962702390248914 NA 0.0372976097510861 NA FALSE NA 1 1.171 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 rs376934853 1 NA G:0 G:0.0001 TAG A,G 1.654e-05 17:78086589 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 splice_region_variant 1.547464 0.97215 0.71933 0.156188 0.808364609454781 0.399523 0.999997823984353 TRUE 8.12737e-06 ENSE00001344179_017 ENSE00001344179 017 17 76082536 76082705 + 48 84 38 T C 76082692 3198 157 TATAGCTCATGACGAAAATCAATCTGGGTAGCACCTACTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCCTGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 78086610 78086611 78086611 downstr_intron 25 1.67567567567568 ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTCGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA mutant NA NA NA NA NA 964 926 0.999657977047212 0.918108214258048 0.95888309565263 NA NA 0.967887790514896 0.957516989982932 NA NA 0.0317701865323153 -0.0394087757248839 NA 0.962702390248914 NA -0.00381929459628427 NA FALSE NA 0 -0.071 . upstream_gene_variant MODIFIER TNRC6C HGNC 29318 ENST00000592251 rs369196541 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 TTG T,C 3.309e-05 17:78086611 TNRC6C HGNC Symbol protein_coding 149595 ENSG00000078687 ENSE00001344179 intron_variant -0.032863 0.17419 0.01126 0.062308 0.351135319621029 0.110838 0.999997823984353 TRUE 5.72667e-05 ENSE00001344179_BRK ENSE00001344179 BRK 17 76082536 76082705 + 48 84 38 A,G; T,T NA NA NA TATAGCTCATGACAAAAATCAATCTGGGTAGCACCTGGTTGCTGCTCCTGTTGTCTCATGGATCCGGACACATTACGCTGGGCCTGTAACATCTGCTGCTGGATTTGTAAACGTTGGTATGCAAGTTGACAGAACGAAGAGTTAAAATAGTATGATAATTAAGTGTAAGT 78086454 78086624 NA NA NA NA NA NA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACTTGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAACCAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA ACTTACACTTAATTATCATACTATTTTAACTCTTCGTTCTGTCAACAGGCATACCAACGTTTACAAATCCAGCAGCAGATGTTACAGGCCCAGCGTAATGTGTCCGGATCCATGAGACAACAGGAGCAGCAAGTAGGTGCTACCCAGATTGATTTTTGTCATGAGCTATA control 90 288 0 0 0 510 409 0.00474920759711297 0 0.00237460379855648 NA NA 0.967887790514896 0.957516989982932 NA NA -0.963138582917783 -0.957516989982932 NA 0.962702390248914 NA -0.960327786450357 NA TRUE NA NA NA NA NA NA TNRC6C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNRC6C NA NA NA ENSG00000078687 ENSE00001344179 NA NA NA NA NA NA NA 0.999997823984353 TRUE NA ENSE00001345173_000 ENSE00001345173 000 13 111009769 111009938 + 50 81 39 NA NA NA NA NA GTTGGCAATGTTTAGGTAACTTTTCTTTGCCTTGTGTTTTATTGTTGCAGGGTGTGAAGAAGTTTGATGTGCCGTGTGGAGGAAGAGATTGCAGTGGGGGCTGCCAGTGCTACCCTGAGAAAGGTGGACGTGTAAGTCACAGCATTGCAATAAATAATATTATCTTCCTC 110357421 110357591 NA NA NA NA NA NA GTTGGCAATGTTTAGGTAACTTTTCTTTGCCTTGTGTTTTATTGTTGCAGGGTGTGAAGAAGTTTGATGTGCCGTGTGGAGGAAGAGATTGCAGTGGGGGCTGCCAGTGCTACCCTGAGAAAGGTGGACGTGTAAGTCACAGCATTGCAATAAATAATATTATCTTCCTC GTTGGCAATGTTTAGGTAACTTTTCTTTGCCTTGTGTTTTATTGTTGCAGGGTGTGAAGAAGTTTGATGTGCCGTGTGGAGGAAGAGATTGCAGTGGGGGCTGCCAGTGCTACCCTGAGAAAGGTGGACGTGTAAGTCACAGCATTGCAATAAATAATATTATCTTCCTC natural 25 16 0.995575199623889 0.997071241364903 0.996323220494396 2602 1189 0.954182329158868 0.95939900547542 0.956790667317144 0.995575199623889 0.997071241364903 0.954182329158868 0.95939900547542 0 0 0 0 0.996323220494396 0.956790667317144 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001345173 NA NA NA NA NA NA NA 0.000257274838666869 FALSE NA ENSE00001351159_000 ENSE00001351159 000 7 75221323 75221492 - 51 57 62 NA NA NA NA NA TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA 75592004 75592174 NA NA NA NA NA NA TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA natural NA NA NA NA NA 553 722 0.901292981574145 0.98183071752574 0.941561849549942 NA NA 0.901292981574145 0.98183071752574 NA NA 0 0 NA 0.941561849549942 NA 0 NA FALSE NA NA NA NA NA NA HIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HIP1 NA NA NA ENSG00000127946 ENSE00001351159 NA NA NA NA NA NA NA 0.999681016475132 TRUE NA ENSE00001351159_003 ENSE00001351159 003 7 75221323 75221492 - 51 57 62 T C 75221353 1304 140 TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCGGGAGCCACCTGCTTCTCCTTTCCTTCCTCA 75592004 75592174 75592034 75592035 75592035 downstr_intron 21 1.42 TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCGGGAGCCACCTGCTTCTCCTTTCCTTCCTCA TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA mutant NA NA NA NA NA 245 733 1 1 1 NA NA 0.901292981574145 0.98183071752574 NA NA 0.0987070184258549 0.0181692824742604 NA 0.941561849549942 NA 0.0584381504500577 NA FALSE NA 0 -4.948 . intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 4/28 1 NA CTG T,C 1.647e-05 7:75592035 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001351159 intron_variant -0.249813 0.07825 0.00348 0.062308 0.454550769568279 0.12233 0.999681016475132 TRUE 1.62454e-05 ENSE00001351159_006 ENSE00001351159 006 7 75221323 75221492 - 51 57 62 C G 75221405 1307 88 TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACACAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA 75592004 75592174 75592086 75592087 75592087 exon 26 0.456140350877193 TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACACAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA mutant NA NA NA NA NA 175 38 1 1 1 NA NA 0.901292981574145 0.98183071752574 NA NA 0.0987070184258549 0.0181692824742604 NA 0.941561849549942 NA 0.0584381504500577 NA FALSE NA 1 4.604 . missense_variant MODERATE HIP1 HGNC 4913 ENST00000434438 4/29 1 tolerated(0.06) benign(0.016) NA TCT C,G 1.647e-05 7:75592087 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001351159 missense_variant 2.984478 0.99028 0.94915 0.706548 0.964060409268484 0 0.999681016475132 TRUE 8.12275e-06 ENSE00001351159_012 ENSE00001351159 012 7 75221323 75221492 - 51 57 62 T A 75221453 1313 40 TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACTGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA 75592004 75592174 75592134 75592135 75592135 upstr_intron -23 -0.354838709677419 TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACTGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA mutant NA NA NA NA NA 84 172 1 1 1 NA NA 0.901292981574145 0.98183071752574 NA NA 0.0987070184258549 0.0181692824742604 NA 0.941561849549942 NA 0.0584381504500577 NA FALSE NA 0 -2.363 . intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 3/28 1 NA CTG T,A 8.236e-06 7:75592135 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001351159 intron_variant -0.056563 0.1671 0.01132 0.062308 0.477069188992168 0.150236 0.999681016475132 TRUE 4.06987e-06 ENSE00001351159_013 ENSE00001351159 013 7 75221323 75221492 - 51 57 62 G C 75221471 1314 22 TCCTTCCCTTTGTCTTTCTTTGCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA 75592004 75592174 75592152 75592153 75592153 upstr_intron -41 -0.645161290322581 TCCTTCCCTTTGTCTTTCTTTGCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA TCCTTCCCTTTGTCTTTCTTTCCTTCTCCATTCTCTCACAGGCTGTTCTTTTGCCCCTGCAGGTCCTGAAGGACTCTCTGAGATACAGAAATGAATTGAGTGACATGAGCAGGATGTGGGTGAGTTTGGAGATGTACTCAGGAGCCACCTGCTTCTCCTTTCCTTCCTCA mutant NA NA NA NA NA 167 261 0.971819017233218 1 0.985909508616609 NA NA 0.901292981574145 0.98183071752574 NA NA 0.0705260356590732 0.0181692824742604 NA 0.941561849549942 NA 0.0443476590666668 NA FALSE NA 0.001 0.333 rs191939608 intron_variant MODIFIER HIP1 HGNC 4913 ENST00000434438 3/28 1 NA GGA G,C 5.766e-05 7:75592153 HIP1 HGNC Symbol protein_coding 205662 ENSG00000127946 ENSE00001351159 intron_variant -0.141611 0.33944 0.0349 0.062308 0.552090078947509 0.109414 0.999681016475132 TRUE 4.9004e-05 ENSE00001351178_000 ENSE00001351178 000 18 12421494 12421663 + 45 90 35 NA NA NA NA NA AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 NA NA NA NA NA NA AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT natural 40 47 0.85 0.9459964 0.8979982 931 5339 0.9832176 0.9488798 0.9660487 0.85 0.9459964 0.9832176 0.9488798 0 0 0 0 0.8979982 0.9660487 0 0 0 FALSE FALSE NA NA NA NA NA SLMO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRELID3A NA NA NA ENSG00000141391 ENSE00003599973 NA NA NA NA NA NA NA NA NA NA ENSE00001351178_004 ENSE00001351178 004 18 12421494 12421663 + 45 90 35 T C 12421518 163 25 AGAATTTTTAACGTTCCACTATGCCAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421518 12421519 12421519 upstr_intron -21 -0.4444444 AGAATTTTTAACGTTCCACTATGCCAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant NA NA NA NA NA 12 692 1 0.8721558 0.9360779 0.85 0.9459964 0.9832176 0.9488798 NA NA 0.01678239 -0.07672408 0.8979982 0.9660487 NA -0.02997084 NA FALSE NA 0 0.342 rs76743506 intron_variant MODIFIER SLMO1 HGNC 24639 ENST00000587862 2/5 rs76743506 1 C:0.0078 C:0.0287 C:0 NA C:0 C:0.001 C:0 C:0.0291 C:0 CTA T,C 0.002496 18:12421519 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 5_prime_UTR_variant 0.125315 0.27573 0.04924 0 0.3346185 0.0802182 NA NA 0.00195522 ENSE00001351178_008 ENSE00001351178 008 18 12421494 12421663 + 45 90 35 A C 12421537 167 44 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTCGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421537 12421538 12421538 upstr_intron -2 -0.02222222 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTCGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant NA NA NA NA NA 233 430 0 0.006015068 0.003007534 0.85 0.9459964 0.9832176 0.9488798 NA NA -0.9832176 -0.9428648 0.8979982 0.9660487 NA -0.9630412 NA TRUE NA 1 8.259 . splice_acceptor_variant HIGH SLMO1 HGNC 24639 ENST00000587862 2/5 1 NA HC TAG A,C 8.236e-06 18:12421538 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 splice_acceptor_variant 4.768272 0.97339 0.97257 0 0.9956305 0.977451 NA NA 4.06375e-06 ENSE00001351178_011 ENSE00001351178 011 18 12421494 12421663 + 45 90 35 A G 12421559 170 66 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACGTTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421559 12421560 12421560 exon 21 0.2333333 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACGTTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant NA NA NA NA NA 3434 51 0.968302 0.9968862 0.9825941 0.85 0.9459964 0.9832176 0.9488798 NA NA -0.01491563 0.04800637 0.8979982 0.9660487 NA 0.01654537 NA FALSE NA 0.706 -0.038 . synonymous_variant LOW SLMO1 HGNC 24639 ENST00000587862 3/6 1 NA CAT A,G 1.647e-05 18:12421560 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 synonymous_variant -0.118627 0.9268 0.44193 0.766844 0.605775 0 NA NA 8.12156e-06 ENSE00001351178_012 ENSE00001351178 012 18 12421494 12421663 + 45 90 35 G A 12421562 171 69 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTAACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421562 12421563 12421563 exon 24 0.2666667 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTAACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant 398 606 0.85 0.8481673 0.8490836 1229 798 0.8067964 0.8766628 0.8417296 0.85 0.9459964 0.9832176 0.9488798 0 -0.09782917 -0.1764212 -0.07221704 0.8979982 0.9660487 -0.04891458 -0.1243191 0.07540453 FALSE FALSE 1 1.453 . synonymous_variant LOW SLMO1 HGNC 24639 ENST00000587862 3/6 1 NA TGA G,A 2.471e-05 18:12421563 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 synonymous_variant 0.606143 0.9222 0.78262 0.766844 0.6588854 0 NA NA 1.21822e-05 ENSE00001351178_016 ENSE00001351178 016 18 12421494 12421663 + 45 90 35 G T 12421584 175 91 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTTTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421584 12421585 12421585 exon -45 0.5111111 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTTTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant 22 32 0.85 0.85 0.85 155 127 0.95 0.9487733 0.9493867 0.85 0.9459964 0.9832176 0.9488798 0 -0.09599643 -0.03321761 -0.000106545 0.8979982 0.9660487 -0.04799822 -0.01666208 0.03133614 FALSE FALSE 1 2.062 . missense_variant MODERATE SLMO1 HGNC 24639 ENST00000587862 3/6 1 tolerated(0.09) benign(0.359) NA TGT G,T 8.236e-06 18:12421585 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 missense_variant 2.468536 0.95582 0.89325 0.766844 0.9916588 0 NA NA 4.06081e-06 ENSE00001351178_017 ENSE00001351178 017 18 12421494 12421663 + 45 90 35 G A 12421586 176 93 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTAGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421586 12421587 12421587 exon -43 0.5333333 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTAGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant NA NA NA NA NA 17 108 0.8 0.8 0.8 0.85 0.9459964 0.9832176 0.9488798 NA NA -0.1832176 -0.1488798 0.8979982 0.9660487 NA -0.1660487 NA FALSE NA 0.29 -0.621 . synonymous_variant LOW SLMO1 HGNC 24639 ENST00000587862 3/6 1 NA TGG G,A 8.236e-06 18:12421587 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 synonymous_variant 0.527467 0.87594 0.22661 0.615465 0.6159447 0 NA NA 8.12176e-06 ENSE00001351178_018 ENSE00001351178 018 18 12421494 12421663 + 45 90 35 G A 12421587 177 94 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGATGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421587 12421588 12421588 exon -42 0.5444444 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGATGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant NA NA NA NA NA 73 92 0.9199071 1 0.9599535 0.85 0.9459964 0.9832176 0.9488798 NA NA -0.06331053 0.05112015 0.8979982 0.9660487 NA -0.00609519 NA FALSE NA 1 8.73 . missense_variant MODERATE SLMO1 HGNC 24639 ENST00000587862 3/6 1 deleterious(0.02) probably_damaging(1) NA GGT G,A 8.236e-06 18:12421588 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 missense_variant 6.176842 0.9773 0.97167 0.615465 0.9989784 0 NA NA 4.06088e-05 ENSE00001351178_019 ENSE00001351178 019 18 12421494 12421663 + 45 90 35 A T 12421591 178 98 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGTTCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421591 12421592 12421592 exon -38 0.5888889 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGTTCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant NA NA NA NA NA 655 782 0.8116881 0.8 0.8058441 0.85 0.9459964 0.9832176 0.9488798 NA NA -0.1715295 -0.1488798 0.8979982 0.9660487 NA -0.1602047 NA FALSE NA 1 8.259 . missense_variant MODERATE SLMO1 HGNC 24639 ENST00000587862 3/6 1 deleterious(0) probably_damaging(1) NA GAT A,T 8.236e-06 18:12421592 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 missense_variant 6.047601 0.97252 0.97337 0.615465 0.9938645 0 NA NA 4.06081e-06 ENSE00001351178_020 ENSE00001351178 020 18 12421494 12421663 + 45 90 35 A G 12421601 179 108 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAGAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 12421601 12421602 12421602 exon -28 0.7 AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAGAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT mutant NA NA NA NA NA 1672 1753 0.9979431 0.9991458 0.9985445 0.85 0.9459964 0.9832176 0.9488798 NA NA 0.01472552 0.05026593 0.8979982 0.9660487 NA 0.03249573 NA FALSE NA 1 1.374 rs149706928 synonymous_variant LOW SLMO1 HGNC 24639 ENST00000587862 3/6 rs149706928 1 NA G:0 G:0.0006 AAA A,G 0.0001812 18:12421602 PRELID3A HGNC Symbol protein_coding 24342 ENSG00000141391 ENSE00003599973 synonymous_variant -0.073271 0.92576 0.62021 0.743674 0.5822005 0 NA NA 0.000259896 ENSE00001351178_BRK ENSE00001351178 BRK 18 12421494 12421663 + 45 90 35 A,G; T,T NA NA NA AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTTTATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATCCAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT 12421494 12421664 NA NA NA NA NA NA AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTTTATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATCCAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT AGAATTTTTAACGTTCCACTATGCTAGTTTTGCTTTGTTTTCTAGATTTTGGGAACCAGTAGGACATTGACATACATCCGAGAACATTCTGTGGTGGATCCAGTGGAAAAGAAAATGGAACTTTGTTCTACCAATGTAAGCAATGGCCTCAGATGAGAAACGGGCTCAGT control 34 59 0 0 0 582 376 0 0.01575762 0.007878809 0.85 0.9459964 0.9832176 0.9488798 -0.85 -0.9459964 -0.9832176 -0.9331222 0.8979982 0.9660487 -0.8979982 -0.9581699 0.0601717 TRUE TRUE NA NA NA NA NA SLMO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRELID3A NA NA NA ENSG00000141391 ENSE00003599973 NA NA NA NA NA NA NA NA NA NA ENSE00001352287_000 ENSE00001352287 000 9 132889714 132889883 + 48 84 38 NA NA NA NA NA CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 NA NA NA NA NA NA CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG natural 22 25 0.9963105 0.9995617 0.9979361 6871 9023 0.9342936 0.9840929 0.9591933 0.9963105 0.9995617 0.9342936 0.9840929 0 0 0 0 0.9979361 0.9591933 0 0 0 FALSE FALSE NA NA NA NA NA GPR107 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GPR107 NA NA NA ENSG00000148358 ENSE00003669299 NA NA NA NA NA NA NA 0.8391496 FALSE NA ENSE00001352287_001 ENSE00001352287 001 9 132889714 132889883 + 48 84 38 C T 132889731 3102 18 CTAATTTTAATGTTGATTTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127451 130127452 130127452 upstr_intron -31 -0.625 CTAATTTTAATGTTGATTTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 394 887 0.9964273 0.9985168 0.9974721 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.06213372 0.01442387 0.9979361 0.9591933 NA 0.03827879 NA FALSE NA 0.195 0.216 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 1 NA TCT C,T 8.236e-06 9:130127452 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 intron_variant 0.186717 0.16078 0.02357 0.156188 0.5303273 0.153138 0.8391496 FALSE 4.19548e-06 ENSE00001352287_002 ENSE00001352287 002 9 132889714 132889883 + 48 84 38 T C 132889736 3103 23 CTAATTTTAATGTTGATCTGATCTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127456 130127457 130127457 upstr_intron -26 -0.5208333 CTAATTTTAATGTTGATCTGATCTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 1149 1140 0.9943998 0.9907474 0.9925736 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.06010619 0.006654499 0.9979361 0.9591933 NA 0.03338035 NA FALSE NA 0.013 1.035 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 1 NA TTT T,C 8.236e-06 9:130127457 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 intron_variant -0.018198 0.25201 0.14098 0.156188 0.6838552 0.212094 0.8391496 FALSE 4.17324e-06 ENSE00001352287_004 ENSE00001352287 004 9 132889714 132889883 + 48 84 38 C G 132889745 3105 32 CTAATTTTAATGTTGATCTGATTTCCTGTTTGTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127465 130127466 130127466 upstr_intron -17 -0.3333333 CTAATTTTAATGTTGATCTGATTTCCTGTTTGTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 204 229 1 0.9971238 0.9985619 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.06570639 0.01303091 0.9979361 0.9591933 NA 0.03936865 NA FALSE NA 0 -0.615 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 rs372707216 1 NA G:0 G:0.0001 TCT C,G 8.236e-06 9:130127466 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 intron_variant 0.681858 0.22654 0.0847 0.156188 0.7329547 0.153039 0.8391496 FALSE NA ENSE00001352287_007 ENSE00001352287 007 9 132889714 132889883 + 48 84 38 C T 132889773 3108 60 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTATATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127493 130127494 130127494 exon 12 0.1428571 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTATATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 245 2816 0.9916902 0.9352607 0.9634755 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.05739659 -0.04883222 0.9979361 0.9591933 NA 0.004282188 NA FALSE NA 0.988 0.278 rs143872682 upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 rs143872682 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 ACA C,T 4.942e-05 9:130127494 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 synonymous_variant 1.230549 0.89506 0.7544 0.706548 0.7569443 0 0.8391496 FALSE 4.46991e-05 ENSE00001352287_009 ENSE00001352287 009 9 132889714 132889883 + 48 84 38 C G 132889806 3110 93 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTGAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127526 130127527 130127527 exon -40 0.5357143 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTGAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 140 359 1 0.9969754 0.9984877 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.06570639 0.01288252 0.9979361 0.9591933 NA 0.03929446 NA FALSE NA 0.995 0.377 rs143281024 upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 rs143281024 1 NA G:0 G:0.0001 TCA C,G 8.236e-06 9:130127527 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 synonymous_variant 1.278885 0.8999 0.79876 0.706548 0.7684706 0 0.8391496 FALSE 8.12255e-06 ENSE00001352287_010 ENSE00001352287 010 9 132889714 132889883 + 48 84 38 A G 132889808 3111 95 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAGACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127528 130127529 130127529 exon -38 0.5595238 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAGACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 347 1500 0.9941255 0.9495382 0.9718318 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.05983191 -0.03455476 0.9979361 0.9591933 NA 0.01263858 NA FALSE NA 1 4.647 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 rs368664209 1 NA G:0 G:0.0001 AAA A,G 4.118e-05 9:130127529 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 missense_variant 2.865447 0.94266 0.91857 0.706548 0.996301 0 0.8391496 FALSE 2.43681e-05 ENSE00001352287_011 ENSE00001352287 011 9 132889714 132889883 + 48 84 38 C T 132889812 3112 99 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTTGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127532 130127533 130127533 exon -34 0.6071429 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTTGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 2045 1764 0.9952427 0.9924618 0.9938522 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.06094906 0.008368894 0.9979361 0.9591933 NA 0.03465898 NA FALSE NA 0.003 -1.547 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 1 NA TCG C,T 0.0001235 9:130127533 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 synonymous_variant 2.110368 0.30241 0.08058 0.706548 0.8410704 0 0.8391496 FALSE 9.74849e-05 ENSE00001352287_012 ENSE00001352287 012 9 132889714 132889883 + 48 84 38 G A 132889813 3113 100 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCACTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127533 130127534 130127534 exon -33 0.6190476 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCACTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 106 651 0.963116 0.886695 0.9249055 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.02882239 -0.09739793 0.9979361 0.9591933 NA -0.03428777 NA FALSE NA 0.999 4.409 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 rs199776309 1 NA A:0 A:0.0003 CGC G,A 8.236e-05 9:130127534 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 missense_variant 2.564519 0.92943 0.87752 0.706548 0.9857873 0 0.8391496 FALSE 8.12453e-05 ENSE00001352287_013 ENSE00001352287 013 9 132889714 132889883 + 48 84 38 G T 132889816 3114 103 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTTTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127536 130127537 130127537 exon -30 0.6547619 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTTTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 2739 1061 0.9245313 0.8104264 0.8674789 0.9963105 0.9995617 0.9342936 0.9840929 NA NA -0.009762313 -0.1736665 0.9979361 0.9591933 NA -0.0917144 NA FALSE NA 1 3.824 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 1 NA TGT G,T 8.236e-06 9:130127537 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 missense_variant 6.349662 0.92776 0.9124 0.706548 0.9962026 0 0.8391496 FALSE 4.06177e-06 ENSE00001352287_015 ENSE00001352287 015 9 132889714 132889883 + 48 84 38 C T 132889839 3116 126 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTTTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127559 130127560 130127560 exon -7 0.9285714 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTTTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 358 1201 1 0.9994914 0.9997457 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.06570639 0.01539846 0.9979361 0.9591933 NA 0.04055243 NA FALSE NA 0.971 0.136 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 1 NA TCT C,T 8.236e-06 9:130127560 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 synonymous_variant 1.909644 0.89394 0.79445 0.706548 0.8354695 0 0.8391496 FALSE 4.0624e-06 ENSE00001352287_018 ENSE00001352287 018 9 132889714 132889883 + 48 84 38 C T 132889856 3119 143 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTTACAGGGCAGAATGCCAGAGAATTTATG 130127434 130127604 130127576 130127577 130127577 downstr_intron 11 1.297297 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTTACAGGGCAGAATGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 1104 430 0.9993271 0.999632 0.9994796 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.06503347 0.0155391 0.9979361 0.9591933 NA 0.04028629 NA FALSE NA 0 0.005 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 rs369236956 1 NA T:0.0005 T:0 TCA C,T 2.471e-05 9:130127577 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 intron_variant 1.131929 0.20171 0.09085 0.062308 0.8033133 0.311688 0.8391496 FALSE 2.03421e-05 ENSE00001352287_019 ENSE00001352287 019 9 132889714 132889883 + 48 84 38 A G 132889867 3120 154 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAGTGCCAGAGAATTTATG 130127434 130127604 130127587 130127588 130127588 downstr_intron 22 1.594595 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAGTGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 908 627 0.9505097 0.760155 0.8553323 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.01621609 -0.223938 0.9979361 0.9591933 NA -0.1038609 NA FALSE NA 0 0.133 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 1 NA AAT A,G 8.236e-06 9:130127588 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 intron_variant 0.10213 0.19274 0.02808 0.062308 0.4872643 0.121427 0.8391496 FALSE 4.09145e-06 ENSE00001352287_020 ENSE00001352287 020 9 132889714 132889883 + 48 84 38 T G 132889868 3121 155 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAAGGCCAGAGAATTTATG 130127434 130127604 130127588 130127589 130127589 downstr_intron 23 1.621622 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAAGGCCAGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 245 814 1 0.9946537 0.9973269 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.06570639 0.0105608 0.9979361 0.9591933 NA 0.0381336 NA FALSE NA 0 -0.066 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 1 NA ATG T,G 1.647e-05 9:130127589 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 intron_variant 0.414867 0.27373 0.10291 0.062308 0.632927 0.0770323 0.8391496 FALSE 1.6371e-05 ENSE00001352287_021 ENSE00001352287 021 9 132889714 132889883 + 48 84 38 A G 132889872 3122 159 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCGGAGAATTTATG 130127434 130127604 130127592 130127593 130127593 downstr_intron 27 1.72973 CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCGGAGAATTTATG CTAATTTTAATGTTGATCTGATTTCCTGTTTCTTTCCTCCTCATGCAGATTGTGTGTTACATATACTTCACTAGGATCATTGCATTTCTCCTCAAACTCGCTGTTCCATTCCAGTGGAAGTGGCTCTACCAGGTACGCTGCTCACAGGGCAGAATGCCAGAGAATTTATG mutant NA NA NA NA NA 354 1384 0.9921145 0.9985158 0.9953152 0.9963105 0.9995617 0.9342936 0.9840929 NA NA 0.05782091 0.01442288 0.9979361 0.9591933 NA 0.03612189 NA FALSE NA 0 -2.668 . upstream_gene_variant MODIFIER GPR107 HGNC 17830 ENST00000415344 1 NA CAG A,G 8.236e-06 9:130127593 GPR107 HGNC Symbol protein_coding 86743 ENSG00000148358 ENSE00003669299 intron_variant 0.050224 0.19349 0.02785 0.062308 0.3741877 0.0769849 0.8391496 FALSE 4.10024e-06 ENSE00001353824_000 ENSE00001353824 000 11 25098824 25098993 + 51 78 41 NA NA NA NA NA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 NA NA NA NA NA NA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA natural 67 50 0.9980078 0.9991016 0.9985547 2626 1910 0.9857148 0.9951607 0.9904378 0.9980078 0.9991016 0.9857148 0.9951607 0 0 0 0 0.9985547 0.9904378 0 0 0 FALSE FALSE NA NA NA NA NA LUZP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LUZP2 NA NA NA ENSG00000187398 ENSE00001353824 NA NA NA NA NA NA NA 8.713283e-05 FALSE NA ENSE00001353824_001 ENSE00001353824 001 11 25098824 25098993 + 51 78 41 C A 25098834 818 11 CACTTTCTTTATTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077287 25077288 25077288 upstr_intron -41 -0.7843137 CACTTTCTTTATTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 261 118 0.9976106 1 0.9988053 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.0118958 0.00483925 0.9985547 0.9904378 NA 0.008367523 NA FALSE NA 0 -2.537 rs75120215 intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 10/11 rs75120215 1 A:0.0361 A:0.056 A:0.0043 NA A:0.0903 A:0.008 A:0.0051 A:0.0433 A:0.0043 TCT A,A 0.014 11:25077288 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant 0.039665 0.07905 0.00136 0.061011 0.402884 0.0477024 8.713283e-05 FALSE 0.0129438 ENSE00001353824_002 ENSE00001353824 002 11 25098824 25098993 + 51 78 41 T A 25098842 819 19 CACTTTCTTTCTTTAACTACATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077295 25077296 25077296 upstr_intron -33 -0.627451 CACTTTCTTTCTTTAACTACATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 68 2131 1 0.9957085 0.9978543 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01428522 0.000547778 0.9985547 0.9904378 NA 0.0074165 NA FALSE NA 0 -0.027 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 10/11 rs370259548 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 TTC T,A 0.0002224 11:25077296 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant 0.499199 0.10636 0.00688 0.061011 0.7058639 0.0779454 8.713283e-05 FALSE 0.000292823 ENSE00001353824_004 ENSE00001353824 004 11 25098824 25098993 + 51 78 41 G T 25098850 821 27 CACTTTCTTTCTTTAACTTCATTGATTTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077303 25077304 25077304 upstr_intron -25 -0.4705882 CACTTTCTTTCTTTAACTTCATTGATTTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 1143 902 0.9982525 0.9504079 0.9743302 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01253772 -0.04475289 0.9985547 0.9904378 NA -0.01610759 NA FALSE NA 0 -1.059 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 10/11 1 NA TGT G,T 8.236e-06 11:25077304 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant -0.319983 0.10456 0.00327 0.061011 0.5189361 0.0448725 8.713283e-05 FALSE 4.06507e-06 ENSE00001353824_005 ENSE00001353824 005 11 25098824 25098993 + 51 78 41 T A 25098854 822 31 CACTTTCTTTCTTTAACTTCATTGATGTATATTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077307 25077308 25077308 upstr_intron -21 -0.3921569 CACTTTCTTTCTTTAACTTCATTGATGTATATTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 315 1147 0.9876083 0.9999668 0.9937876 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.00189357 0.004806064 0.9985547 0.9904378 NA 0.003349817 NA FALSE NA 0.003 0.494 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 10/11 1 NA TTT T,A 8.236e-06 11:25077308 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant 0.522326 0.18202 0.05165 0.061011 0.6579129 0.0448725 8.713283e-05 FALSE 4.06388e-06 ENSE00001353824_006 ENSE00001353824 006 11 25098824 25098993 + 51 78 41 T G 25098856 823 33 CACTTTCTTTCTTTAACTTCATTGATGTATTTGTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077309 25077310 25077310 upstr_intron -19 -0.3529412 CACTTTCTTTCTTTAACTTCATTGATGTATTTGTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant 16 23 1 1 1 1471 3249 0.9936965 0.9984794 0.996088 0.9980078 0.9991016 0.9857148 0.9951607 0.001992176 0.0008983845 0.007981743 0.003318662 0.9985547 0.9904378 0.00144528 0.005650203 0.004204922 FALSE FALSE 0.001 0.091 rs182010368 intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 10/11 rs182010368 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0 G:0.0002 TTT T,G 4.942e-05 11:25077310 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant -0.085776 0.18476 0.05002 0.061011 0.5123919 0.0448725 8.713283e-05 FALSE 7.72063e-05 ENSE00001353824_007 ENSE00001353824 007 11 25098824 25098993 + 51 78 41 T A 25098860 824 37 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAAATGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077313 25077314 25077314 upstr_intron -15 -0.2745098 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAAATGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 380 294 0.9977033 1 0.9988516 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01198851 0.00483925 0.9985547 0.9904378 NA 0.008413878 NA FALSE NA 0 0.219 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 10/11 1 NA ATT T,A 8.236e-06 11:25077314 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant -0.030588 0.15834 0.10897 0.061011 0.4708248 0.0779908 8.713283e-05 FALSE 1.62524e-05 ENSE00001353824_008 ENSE00001353824 008 11 25098824 25098993 + 51 78 41 T A 25098864 825 41 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCAACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077317 25077318 25077318 upstr_intron -11 -0.1960784 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCAACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant 12 12 1 1 1 NA NA NA NA NA 0.9980078 0.9991016 0.9857148 0.9951607 0.001992176 0.0008983845 NA NA 0.9985547 0.9904378 0.00144528 NA NA NA FALSE 0 -0.074 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 10/11 1 NA CTA T,A 8.236e-06 11:25077318 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant 0.180607 0.1486 0.0446 0.061011 0.4964831 0.0851259 8.713283e-05 FALSE 4.06266e-06 ENSE00001353824_009 ENSE00001353824 009 11 25098824 25098993 + 51 78 41 T C 25098872 826 49 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGCAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077325 25077326 25077326 upstr_intron -3 -0.03921569 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGCAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 2217 792 0.9405722 0.9836494 0.9621108 0.9980078 0.9991016 0.9857148 0.9951607 NA NA -0.0451426 -0.01151139 0.9985547 0.9904378 NA -0.02832699 NA FALSE NA 0.41 0.231 . splice_region_variant&intron_variant LOW LUZP2 HGNC 23206 ENST00000336930 10/11 1 NA GTA T,C 1.647e-05 11:25077326 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 splice_region_variant -0.230974 0.17765 0.0034 0.061011 0.4646631 0.118466 8.713283e-05 FALSE 8.12427e-06 ENSE00001353824_010 ENSE00001353824 010 11 25098824 25098993 + 51 78 41 G A 25098874 827 51 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAAGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077327 25077328 25077328 upstr_intron -1 0 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAAGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 52 224 0 0.08823387 0.04411694 0.9980078 0.9991016 0.9857148 0.9951607 NA NA -0.9857148 -0.9069269 0.9985547 0.9904378 NA -0.9463208 NA TRUE NA 0.999 2.91 . splice_acceptor_variant HIGH LUZP2 HGNC 23206 ENST00000336930 10/11 1 NA HC AGG G,A 8.236e-06 11:25077328 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 splice_acceptor_variant 2.11055 0.9131 0.73799 0.061011 0.9207732 0.188984 8.713283e-05 FALSE 4.06253e-06 ENSE00001353824_011 ENSE00001353824 011 11 25098824 25098993 + 51 78 41 A G 25098883 828 60 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGGCCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077336 25077337 25077337 exon 9 0.1153846 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGGCCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 733 622 0.9223026 0.9946507 0.9584766 0.9980078 0.9991016 0.9857148 0.9951607 NA NA -0.06341215 -0.0005100909 0.9985547 0.9904378 NA -0.03196112 NA FALSE NA 0 -0.562 . synonymous_variant LOW LUZP2 HGNC 23206 ENST00000336930 11/12 1 NA GAC A,G 8.236e-06 11:25077337 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 synonymous_variant -0.451897 0.09218 0.00073 0.553676 0.4495504 0 8.713283e-05 FALSE 4.0619e-06 ENSE00001353824_012 ENSE00001353824 012 11 25098824 25098993 + 51 78 41 C T 25098885 829 62 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACTGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077338 25077339 25077339 exon 11 0.1410256 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACTGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 549 347 0.9874036 1 0.9937018 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.001688828 0.00483925 0.9985547 0.9904378 NA 0.003264039 NA FALSE NA 0 -0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:25077339 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 missense_variant 2.524525 0.14673 0.04097 0.553676 0.6157619 0 8.713283e-05 FALSE 6.90574e-05 ENSE00001353824_013 ENSE00001353824 013 11 25098824 25098993 + 51 78 41 C A 25098885 830 62 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACAGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077338 25077339 25077339 exon 11 0.1410256 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACAGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 648 793 1 0.9966684 0.9983342 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01428522 0.001507639 0.9985547 0.9904378 NA 0.007896431 NA FALSE NA 0 -0.47 NA NA NA LUZP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LUZP2 NA NA NA ENSG00000187398 ENSE00001353824 missense_variant 2.376742 0.14613 0.02209 0.553676 0.8033467 0 8.713283e-05 FALSE 4.0622e-06 ENSE00001353824_014 ENSE00001353824 014 11 25098824 25098993 + 51 78 41 G A 25098886 831 63 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCATGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077339 25077340 25077340 exon 12 0.1538462 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCATGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 215 2354 0.989816 0.8802833 0.9350497 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.004101215 -0.1148774 0.9985547 0.9904378 NA -0.05538811 NA FALSE NA 0.002 -0.783 . synonymous_variant LOW LUZP2 HGNC 23206 ENST00000336930 11/12 rs370460065 1 NA A:0 A:0.0001 CGT G,A 8.236e-06 11:25077340 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 synonymous_variant 0.303726 0.19367 0.01742 0.553676 0.5370398 0 8.713283e-05 FALSE 4.06365e-06 ENSE00001353824_015 ENSE00001353824 015 11 25098824 25098993 + 51 78 41 C T 25098891 832 68 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTTCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077344 25077345 25077345 exon 17 0.2179487 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTTCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 359 1136 0.9684966 0.9998608 0.9841787 0.9980078 0.9991016 0.9857148 0.9951607 NA NA -0.01721822 0.004700007 0.9985547 0.9904378 NA -0.006259105 NA FALSE NA 0.01 -0.069 . missense_variant MODERATE LUZP2 HGNC 23206 ENST00000336930 11/12 1 tolerated(0.45) benign(0.181) NA TCC C,T 8.236e-06 11:25077345 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 missense_variant 1.366558 0.25583 0.01938 0.553676 0.7142895 0 8.713283e-05 FALSE 8.1244e-06 ENSE00001353824_017 ENSE00001353824 017 11 25098824 25098993 + 51 78 41 G A 25098905 834 82 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAAAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077358 25077359 25077359 exon 31 0.3974359 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAAAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 364 957 1 1 1 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01428522 0.00483925 0.9985547 0.9904378 NA 0.009562236 NA FALSE NA 0.02 1.802 . missense_variant MODERATE LUZP2 HGNC 23206 ENST00000336930 11/12 1 tolerated_low_confidence(0.15) benign(0.223) NA AGA G,A 8.236e-06 11:25077359 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 missense_variant 3.210798 0.23417 0.09745 0.553676 0.9897162 0 8.713283e-05 FALSE 4.06273e-06 ENSE00001353824_018 ENSE00001353824 018 11 25098824 25098993 + 51 78 41 C T 25098911 835 88 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTTCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077364 25077365 25077365 exon 37 0.474359 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTTCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 383 625 1 0.9535678 0.9767839 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01428522 -0.04159295 0.9985547 0.9904378 NA -0.01365387 NA FALSE NA 0 -1.233 rs116821457 missense_variant MODERATE LUZP2 HGNC 23206 ENST00000336930 11/12 rs116821457 1 tolerated(0.66) benign(0.001) T:0.0166 T:0.0076 T:0.0375 NA T:0 T:0.0348 T:0.0123 T:0.0082 T:0.032 TCC C,T 0.025 11:25077365 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 missense_variant -1.167331 0.10414 0.01423 0.553676 0.3451972 0 8.713283e-05 FALSE 0.0246014 ENSE00001353824_019 ENSE00001353824 019 11 25098824 25098993 + 51 78 41 C T 25098914 836 91 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCTCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077367 25077368 25077368 exon -39 0.5128205 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCTCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant 10 18 0.966328 1 0.983164 332 453 0.9990041 0.9996507 0.9993274 0.9980078 0.9991016 0.9857148 0.9951607 -0.03167984 0.0008983845 0.01328933 0.004489968 0.9985547 0.9904378 -0.01539073 0.00888965 0.02428038 FALSE FALSE 0 -1.519 . missense_variant MODERATE LUZP2 HGNC 23206 ENST00000336930 11/12 1 tolerated(0.71) benign(0.001) NA CCC C,T 2.471e-05 11:25077368 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 missense_variant -0.21189 0.1273 0.01409 0.553676 0.8315319 0 8.713283e-05 FALSE 3.25055e-05 ENSE00001353824_021 ENSE00001353824 021 11 25098824 25098993 + 51 78 41 G C 25098938 838 115 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCCAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077391 25077392 25077392 exon -15 0.8205128 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCCAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 1635 2079 0.9312256 0.9994831 0.9653543 0.9980078 0.9991016 0.9857148 0.9951607 NA NA -0.05448921 0.004322375 0.9985547 0.9904378 NA -0.02508342 NA FALSE NA 0 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:25077392 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 missense_variant 1.111659 0.1906 0.07834 0.553676 0.9319371 0 8.713283e-05 FALSE 0.443429 ENSE00001353824_022 ENSE00001353824 022 11 25098824 25098993 + 51 78 41 G A 25098938 839 115 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCAAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077391 25077392 25077392 exon -15 0.8205128 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCAAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 49 382 1 1 1 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01428522 0.00483925 0.9985547 0.9904378 NA 0.009562236 NA FALSE NA 0 0.24 NA NA NA LUZP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LUZP2 NA NA NA ENSG00000187398 ENSE00001353824 missense_variant 2.12702 0.2015 0.06384 0.553676 0.9752375 0 8.713283e-05 FALSE 8.13974e-06 ENSE00001353824_024 ENSE00001353824 024 11 25098824 25098993 + 51 78 41 T G 25098971 841 148 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTGCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077424 25077425 25077425 downstr_intron 19 1.475 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTGCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 613 175 0.9044697 1 0.9522348 0.9980078 0.9991016 0.9857148 0.9951607 NA NA -0.0812451 0.00483925 0.9985547 0.9904378 NA -0.03820292 NA FALSE NA 0.002 -0.347 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 11/11 1 NA TTC T,G 1.647e-05 11:25077425 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant -0.027328 0.15737 0.01183 0.061011 0.3750761 0.0443366 8.713283e-05 FALSE 4.91695e-05 ENSE00001353824_025 ENSE00001353824 025 11 25098824 25098993 + 51 78 41 C T 25098972 842 149 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTTGTTTGTGTCAAAAAGCATTTA 25077277 25077447 25077425 25077426 25077426 downstr_intron 20 1.5 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTTGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 1568 711 0.996547 0.9982139 0.9973804 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01083227 0.003053105 0.9985547 0.9904378 NA 0.006942686 NA FALSE NA 0 0.009 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 11/11 1 NA TCG T,T 8.236e-06 11:25077426 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant -0.105227 0.04227 9e-05 0.061011 0.3312985 0.0443366 8.713283e-05 FALSE 9.051e-06 ENSE00001353824_026 ENSE00001353824 026 11 25098824 25098993 + 51 78 41 G A 25098973 843 150 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCATTTGTGTCAAAAAGCATTTA 25077277 25077447 25077426 25077427 25077427 downstr_intron 21 1.525 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCATTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 366 306 0.9944296 0.974792 0.9846108 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.008714834 -0.02036876 0.9985547 0.9904378 NA -0.005826965 NA FALSE NA 0 -2.78 rs147807175 intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 11/11 rs147807175 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 CGT G,A 0.0001812 11:25077427 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant -0.262664 0.08162 0.00594 0.061011 0.5772507 0.0443366 8.713283e-05 FALSE 0.000126769 ENSE00001353824_027 ENSE00001353824 027 11 25098824 25098993 + 51 78 41 T G 25098978 844 155 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGGGTCAAAAAGCATTTA 25077277 25077447 25077431 25077432 25077432 downstr_intron 26 1.65 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGGGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 327 113 1 1 1 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01428522 0.00483925 0.9985547 0.9904378 NA 0.009562236 NA FALSE NA 0 -0.099 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 11/11 1 NA GTG T,G 8.237e-06 11:25077432 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant 0.219337 0.12264 0.02752 0.061011 0.4895726 0.0443366 8.713283e-05 FALSE 4.5912e-06 ENSE00001353824_028 ENSE00001353824 028 11 25098824 25098993 + 51 78 41 G A 25098979 845 156 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTATCAAAAAGCATTTA 25077277 25077447 25077432 25077433 25077433 downstr_intron 27 1.675 CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTATCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA mutant NA NA NA NA NA 574 512 0.9989919 0.9939805 0.9964862 0.9980078 0.9991016 0.9857148 0.9951607 NA NA 0.01327713 -0.001180292 0.9985547 0.9904378 NA 0.006048421 NA FALSE NA 0 -0.469 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000336930 11/11 rs374163421 1 NA A:0.0002 A:0 TGT G,A 8.237e-06 11:25077433 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353824 intron_variant 0.095674 0.114 0.00811 0.061011 0.6623717 0.0443366 8.713283e-05 FALSE 1.3907e-05 ENSE00001353824_BRK ENSE00001353824 BRK 11 25098824 25098993 + 51 78 41 A,G; T,T NA NA NA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTTTGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGCCATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA 25077277 25077447 NA NA NA NA NA NA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTTTGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGCCATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA CACTTTCTTTCTTTAACTTCATTGATGTATTTTTAATTGCTACTTTTGTAGGAGGGCAGACCGTGTTCCATGAAGCACAAAGAAAGTCCCCCAAGTAATGCCACTGCAGAAACCGAGCCTATCCCACAGGTATGTGTTTGTTTTATTTCGTTTGTGTCAAAAAGCATTTA control 65 52 0 0 0 199 193 0 0 0 0.9980078 0.9991016 0.9857148 0.9951607 -0.9980078 -0.9991016 -0.9857148 -0.9951607 0.9985547 0.9904378 -0.9985547 -0.9904378 0.008116956 TRUE TRUE NA NA NA NA NA LUZP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LUZP2 NA NA NA ENSG00000187398 ENSE00001353824 NA NA NA NA NA NA NA 8.713283e-05 FALSE NA ENSE00001353842_000 ENSE00001353842 000 11 24998084 24998253 + 53 75 42 NA NA NA NA NA TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 NA NA NA NA NA NA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA natural NA NA NA NA NA 755 1906 0.9891816 0.9968699 0.9930258 NA NA 0.9891816 0.9968699 NA NA 0 0 NA 0.9930258 NA 0 NA FALSE NA NA NA NA NA NA LUZP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LUZP2 NA NA NA ENSG00000187398 ENSE00001353842 NA NA NA NA NA NA NA 8.713283e-05 FALSE NA ENSE00001353842_002 ENSE00001353842 002 11 24998084 24998253 + 53 75 42 T A 24998106 790 23 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATATATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976559 24976560 24976560 upstr_intron -31 -0.5660377 GTACAGAGGGAAATTGCAGAATATATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 32 29 1 1 1 NA NA 0.9891816 0.9968699 NA NA 0.01081838 0.003130057 NA 0.9930258 NA 0.00697422 NA FALSE NA 0 1.057 rs185602633 intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000529015 5/6 rs185602633 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 TTT T,A 4.945e-05 11:24976560 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 intron_variant 0.955124 0.61432 0.21777 0.061011 0.7969378 0.0441588 8.713283e-05 FALSE 3.46644e-05 ENSE00001353842_008 ENSE00001353842 008 11 24998084 24998253 + 53 75 42 G A 24998158 796 75 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTTCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976611 24976612 24976612 exon 22 0.2933333 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGAAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 156 163 0.9920463 0.9846409 0.9883436 NA NA 0.9891816 0.9968699 NA NA 0.002864681 -0.01222899 NA 0.9930258 NA -0.004682156 NA FALSE NA 1 5.476 . missense_variant MODERATE LUZP2 HGNC 23206 ENST00000529015 6/7 COSM3446421 1 deleterious_low_confidence(0) possibly_damaging(0.801) NA GGA G,A 4.119e-05 11:24976612 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 missense_variant 6.940612 0.98483 0.93256 0.553676 0.9989852 0 8.713283e-05 FALSE 3.50819e-05 ENSE00001353842_010 ENSE00001353842 010 11 24998084 24998253 + 53 75 42 A G 24998169 798 86 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCCAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976622 24976623 24976623 exon 33 0.44 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTGGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 46 664 0.9916595 0.9970243 0.9943419 NA NA 0.9891816 0.9968699 NA NA 0.002477932 0.0001543855 NA 0.9930258 NA 0.001316159 NA FALSE NA 1 2.263 . synonymous_variant LOW LUZP2 HGNC 23206 ENST00000529015 6/7 1 NA TAG A,G 8.239e-06 11:24976623 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 synonymous_variant 0.418283 0.95463 0.66898 0.553676 0.7596426 0 8.713283e-05 FALSE NA ENSE00001353842_011 ENSE00001353842 011 11 24998084 24998253 + 53 75 42 C A 24998177 799 94 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGTCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976630 24976631 24976631 exon -35 0.5466667 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGACAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 50 1194 0.8595515 1 0.9297757 NA NA 0.9891816 0.9968699 NA NA -0.1296301 0.003130057 NA 0.9930258 NA -0.06325005 NA FALSE NA 1 5.756 . missense_variant MODERATE LUZP2 HGNC 23206 ENST00000529015 6/7 1 deleterious_low_confidence(0) probably_damaging(0.958) NA GCC C,A 8.24e-06 11:24976631 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 missense_variant 7.140659 0.98509 0.94787 0.553676 0.997796 0 8.713283e-05 FALSE NA ENSE00001353842_013 ENSE00001353842 013 11 24998084 24998253 + 53 75 42 T A 24998184 801 101 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCTTTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976637 24976638 24976638 exon -28 0.64 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAAAGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 3168 231 0.9991463 1 0.9995731 NA NA 0.9891816 0.9968699 NA NA 0.009964671 0.003130057 NA 0.9930258 NA 0.006547364 NA FALSE NA 0.965 -0.232 . missense_variant MODERATE LUZP2 HGNC 23206 ENST00000529015 6/7 1 tolerated_low_confidence(0.18) possibly_damaging(0.859) NA ATG T,A 2.472e-05 11:24976638 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 missense_variant 4.329794 0.96421 0.54482 0.638212 0.9975792 0 8.713283e-05 FALSE 2.17335e-05 ENSE00001353842_014 ENSE00001353842 014 11 24998084 24998253 + 53 75 42 C T 24998208 802 125 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTACCCTATCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976661 24976662 24976662 exon -4 0.96 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGATAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 1025 456 0.9622636 1 0.9811318 NA NA 0.9891816 0.9968699 NA NA -0.02691802 0.003130057 NA 0.9930258 NA -0.01189398 NA FALSE NA 0.997 0.328 rs189625086 synonymous_variant LOW LUZP2 HGNC 23206 ENST00000529015 6/7 rs189625086 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 ACA C,T 4.122e-05 11:24976662 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 synonymous_variant 1.541471 0.95619 0.44064 0.553676 0.5270231 0 8.713283e-05 FALSE 6.24616e-05 ENSE00001353842_015 ENSE00001353842 015 11 24998084 24998253 + 53 75 42 G T 24998211 803 128 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTACACTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976664 24976665 24976665 exon -1 1 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGTGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 27 98 1 1 1 NA NA 0.9891816 0.9968699 NA NA 0.01081838 0.003130057 NA 0.9930258 NA 0.00697422 NA FALSE NA 1 3.946 . missense_variant&splice_region_variant MODERATE LUZP2 HGNC 23206 ENST00000529015 6/7 1 deleterious_low_confidence(0) possibly_damaging(0.765) NA GGG G,T 1.649e-05 11:24976665 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 missense_variant 4.819426 0.98524 0.91286 0.553676 0.9883449 0 8.713283e-05 FALSE NA ENSE00001353842_016 ENSE00001353842 016 11 24998084 24998253 + 53 75 42 G A 24998212 804 129 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACTTATCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976665 24976666 24976666 downstr_intron 1 1.02439 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGATAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant 10 14 0 0 0 NA NA NA NA NA NA NA 0.9891816 0.9968699 NA NA NA NA NA 0.9930258 NA NA NA NA NA 1 7.225 . splice_donor_variant HIGH LUZP2 HGNC 23206 ENST00000529015 6/6 1 NA HC GGT G,A 8.245e-06 11:24976666 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 splice_donor_variant 5.264512 0.98483 0.95842 0.061011 0.9943162 0.969128 8.713283e-05 FALSE NA ENSE00001353842_017 ENSE00001353842 017 11 24998084 24998253 + 53 75 42 A G 24998215 805 132 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTAGACCTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976668 24976669 24976669 downstr_intron 4 1.097561 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAGGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 1010 508 0.9741482 0.9616592 0.9679037 NA NA 0.9891816 0.9968699 NA NA -0.01503341 -0.0352107 NA 0.9930258 NA -0.02512206 NA FALSE NA 1 2.504 . splice_region_variant&intron_variant LOW LUZP2 HGNC 23206 ENST00000529015 6/6 1 NA AAG A,G 8.246e-06 11:24976669 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 splice_region_variant 1.563573 0.96434 0.76592 0.061011 0.8907243 0.345845 8.713283e-05 FALSE NA ENSE00001353842_019 ENSE00001353842 019 11 24998084 24998253 + 53 75 42 T G 24998219 807 136 TGCTAAAACTACAGTTGTAATGGTTCATGAATGTCGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976672 24976673 24976673 downstr_intron 8 1.195122 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCGACATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 270 1344 0.9984658 1 0.9992329 NA NA 0.9891816 0.9968699 NA NA 0.009284134 0.003130057 NA 0.9930258 NA 0.006207095 NA FALSE NA 0.002 -0.183 . splice_region_variant&intron_variant LOW LUZP2 HGNC 23206 ENST00000529015 6/6 1 NA CTA T,G 8.247e-06 11:24976673 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 splice_region_variant 0.740691 0.15534 0.01124 0.061011 0.6750778 0.0536794 8.713283e-05 FALSE 5.47609e-06 ENSE00001353842_021 ENSE00001353842 021 11 24998084 24998253 + 53 75 42 C T 24998221 809 138 TGCTAAAACTACAGTTGTAATGGTTCATGAATATAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976674 24976675 24976675 downstr_intron 10 1.243902 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTATATTCATGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 95 791 1 0.9964995 0.9982498 NA NA 0.9891816 0.9968699 NA NA 0.01081838 -0.0003704176 NA 0.9930258 NA 0.005223982 NA FALSE NA 0 -0.765 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000529015 6/6 1 NA ACA C,T 4.124e-05 11:24976675 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 intron_variant 0.574126 0.11713 0.0197 0.061011 0.5199058 0.046323 8.713283e-05 FALSE 3.50652e-05 ENSE00001353842_023 ENSE00001353842 023 11 24998084 24998253 + 53 75 42 A G 24998226 811 143 TGCTAAAACTACAGTTGTAATGGTTCACGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976679 24976680 24976680 downstr_intron 15 1.365854 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCGTGAACCATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 127 56 1 1 1 NA NA 0.9891816 0.9968699 NA NA 0.01081838 0.003130057 NA 0.9930258 NA 0.00697422 NA FALSE NA 0 0.093 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000529015 6/6 1 NA CAT A,G 8.251e-06 11:24976680 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 intron_variant 0.623138 0.19612 0.07178 0.061011 0.7325237 0.046323 8.713283e-05 FALSE NA ENSE00001353842_026 ENSE00001353842 026 11 24998084 24998253 + 53 75 42 C A 24998232 814 149 TGCTAAAACTACAGTTGTAATTGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976685 24976686 24976686 downstr_intron 21 1.512195 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACAATTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 161 350 0.9681102 0.9908069 0.9794585 NA NA 0.9891816 0.9968699 NA NA -0.02107141 -0.006063059 NA 0.9930258 NA -0.01356724 NA FALSE NA 0 0.09 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000529015 6/6 1 NA CCA C,A 1.651e-05 11:24976686 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 intron_variant 0.110813 0.13916 0.07742 0.061011 0.3524268 0.046323 8.713283e-05 FALSE NA ENSE00001353842_027 ENSE00001353842 027 11 24998084 24998253 + 53 75 42 A G 24998233 815 150 TGCTAAAACTACAGTTGTAACGGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976686 24976687 24976687 downstr_intron 22 1.536585 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCGTTACAACTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 308 93 1 1 1 NA NA 0.9891816 0.9968699 NA NA 0.01081838 0.003130057 NA 0.9930258 NA 0.00697422 NA FALSE NA 0 -0.706 . intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000529015 6/6 1 NA CAT A,G 8.257e-06 11:24976687 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 intron_variant -0.055876 0.12091 0.02061 0.061011 0.4368715 0.046323 8.713283e-05 FALSE 6.65336e-06 ENSE00001353842_029 ENSE00001353842 029 11 24998084 24998253 + 53 75 42 C G 24998240 817 157 TGCTAAAACTACACTTGTAATGGTTCATGAATGTAGACTTACCCTGTCAAGAGCTGCTTTCTCCAGTTCATTTTTGGCTACAGCTAATTTTTGTTCCAGATCAGTAAGCTGCTGCGCCTGTAAAATAAGAGATAAATCTTCTAGATAAATTCTGCAATTTCCCTCTGTAC 24976537 24976707 24976693 24976694 24976694 downstr_intron 29 1.707317 GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAAGTGTAGTTTTAGCA GTACAGAGGGAAATTGCAGAATTTATCTAGAAGATTTATCTCTTATTTTACAGGCGCAGCAGCTTACTGATCTGGAACAAAAATTAGCTGTAGCCAAAAATGAACTGGAGAAAGCAGCTCTTGACAGGGTAAGTCTACATTCATGAACCATTACAACTGTAGTTTTAGCA mutant NA NA NA NA NA 33 122 1 1 1 NA NA 0.9891816 0.9968699 NA NA 0.01081838 0.003130057 NA 0.9930258 NA 0.00697422 NA FALSE NA 0 -0.239 rs182351700 intron_variant MODIFIER LUZP2 HGNC 23206 ENST00000529015 6/6 rs182351700 1 G:0.0014 G:0 G:0.0072 NA G:0 G:0.001 G:0.001 G:0 G:0.0013 ACT C,G 0.001336 11:24976694 LUZP2 HGNC Symbol protein_coding 585661 ENSG00000187398 ENSE00001353842 intron_variant -0.095662 0.15288 0.07579 0.061011 0.3792192 0.0448725 8.713283e-05 FALSE 0.00158888 ENSE00001360006_000 ENSE00001360006 000 17 2603643 2603812 - 33 93 44 NA NA NA NA NA CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 NA NA NA NA NA NA GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG natural 66 48 0.992815 0.9968592 0.9948371 735 853 0.9968217 0.8428542 0.9198379 0.992815 0.9968592 0.9968217 0.8428542 0 0 0 0 0.9948371 0.9198379 0 0 0 FALSE FALSE NA NA NA NA NA CLUH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLUH NA NA NA ENSG00000132361 ENSE00003673816 NA NA NA NA NA NA NA 0.9997018 TRUE NA ENSE00001360006_001 ENSE00001360006 001 17 2603643 2603812 - 33 93 44 C T 2603653 214 160 CTCAGACTGCTGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700358 2700359 2700359 downstr_intron 23 1.71875 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCAGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 1622 51 0.9975344 0.9608609 0.9791977 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.0007127565 0.1180067 0.9948371 0.9198379 NA 0.05935974 NA FALSE NA 0 -0.31 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA CCG C,T 3.307e-05 17:2700359 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 intron_variant 0.195243 0.1563 0.02481 0.256867 0.5872282 0.0416396 0.9997018 TRUE NA ENSE00001360006_002 ENSE00001360006 002 17 2603643 2603812 - 33 93 44 G A 2603654 215 159 CTCAGACTGCCAGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700359 2700360 2700360 downstr_intron 22 1.6875 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACTGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 41 398 1 0.9812682 0.9906341 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.138414 0.9948371 0.9198379 NA 0.07079615 NA FALSE NA 0 -0.374 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA CGG G,A 1.654e-05 17:2700360 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 intron_variant -0.037747 0.12409 0.01699 0.256867 0.649949 0.0416396 0.9997018 TRUE NA ENSE00001360006_004 ENSE00001360006 004 17 2603643 2603812 - 33 93 44 G A 2603665 217 148 CTCAGACTGCCGGTCAGCAGAGACTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700370 2700371 2700371 downstr_intron 11 1.34375 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGTCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 43 97 1 1 1 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.1571458 0.9948371 0.9198379 NA 0.08016207 NA FALSE NA 0.022 0.835 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA GGC G,A 8.267e-06 17:2700371 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 intron_variant 0.273282 0.17156 0.11601 0.256867 0.6056771 0.0940688 0.9997018 TRUE 4.15814e-06 ENSE00001360006_005 ENSE00001360006 005 17 2603643 2603812 - 33 93 44 G A 2603671 218 142 CTCAGACTGCCGGTCAGCAGAGGCTGCAAGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700376 2700377 2700377 downstr_intron 5 1.15625 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCTTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 28 667 1 0.9986768 0.9993384 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.1558226 0.9948371 0.9198379 NA 0.07950047 NA FALSE NA 0.184 -0.018 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA AGG G,A 4.134e-05 17:2700377 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 splice_region_variant 0.135656 0.21727 0.09339 0.256867 0.4331745 0.105365 0.9997018 TRUE 5.78078e-05 ENSE00001360006_006 ENSE00001360006 006 17 2603643 2603812 - 33 93 44 G A 2603672 219 141 CTCAGACTGCCGGTCAGCAGAGGCTGCAGACACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700377 2700378 2700378 downstr_intron 4 1.125 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGTCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant 14 13 0.9956282 0.85 0.9228141 NA NA NA NA NA 0.992815 0.9968592 0.9968217 0.8428542 0.002813283 -0.1468592 NA NA 0.9948371 0.9198379 -0.07202295 NA NA NA FALSE 0.955 1.617 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA GGC G,A 8.268e-06 17:2700378 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 splice_region_variant 0.285118 0.33893 0.26497 0.295142 0.6196245 0.157304 0.9997018 TRUE NA ENSE00001360006_009 ENSE00001360006 009 17 2603643 2603812 - 33 93 44 T G 2603684 222 129 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATAGGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700389 2700390 2700390 exon -9 0.9139785 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCCTATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 54 55 1 1 1 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.1571458 0.9948371 0.9198379 NA 0.08016207 NA FALSE NA 1 7.686 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA ATG T,G 8.27e-06 17:2700390 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 missense_variant 2.61072 0.96518 0.98439 0.706548 0.9830332 0 0.9997018 TRUE 4.09715e-06 ENSE00001360006_013 ENSE00001360006 013 17 2603643 2603812 - 33 93 44 G A 2603710 226 103 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAAGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700415 2700416 2700416 exon -35 0.6344086 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCTTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 52 249 1 1 1 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.1571458 0.9948371 0.9198379 NA 0.08016207 NA FALSE NA 1 7.574 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA AGG G,A 8.266e-06 17:2700416 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 missense_variant 6.236708 0.97185 0.92592 0.706548 0.9991342 0 0.9997018 TRUE 4.07744e-06 ENSE00001360006_014 ENSE00001360006 014 17 2603643 2603812 - 33 93 44 G C 2603721 227 92 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTCCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700426 2700427 2700427 exon -46 0.516129 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGGAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 32 108 1 1 1 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.1571458 0.9948371 0.9198379 NA 0.08016207 NA FALSE NA 1 0.697 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 COSM976788&COSM976789 1 NA TGC G,C 1.653e-05 17:2700427 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 missense_variant -0.306252 0.90954 0.80697 0.706548 0.7512104 0 0.9997018 TRUE 1.22351e-05 ENSE00001360006_015 ENSE00001360006 015 17 2603643 2603812 - 33 93 44 C A 2603722 228 91 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGAGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700427 2700428 2700428 exon -47 0.5053763 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCTCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 334 141 0.9922476 0.9573419 0.9747948 0.992815 0.9968592 0.9968217 0.8428542 NA NA -0.004574084 0.1144877 0.9948371 0.9198379 NA 0.05495683 NA FALSE NA 1 5.755 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:2700428 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 missense_variant 6.283223 0.95956 0.94993 0.706548 0.9983479 0 0.9997018 TRUE 8.16213e-06 ENSE00001360006_016 ENSE00001360006 016 17 2603643 2603812 - 33 93 44 C T 2603722 229 91 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGTGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700427 2700428 2700428 exon -47 0.5053763 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCACAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 171 563 0.5456491 0.6253741 0.5855116 0.992815 0.9968592 0.9968217 0.8428542 NA NA -0.4511726 -0.21748 0.9948371 0.9198379 NA -0.3343263 NA FALSE NA 1 5.755 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLUH NA NA NA ENSG00000132361 ENSE00003673816 missense_variant 6.557901 0.95705 0.94014 0.706548 0.999556 0 0.9997018 TRUE 0 ENSE00001360006_018 ENSE00001360006 018 17 2603643 2603812 - 33 93 44 G T 2603723 231 90 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCTAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700428 2700429 2700429 exon 46 0.4946237 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTAGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 22 61 0.9902551 0.9068056 0.9485304 0.992815 0.9968592 0.9968217 0.8428542 NA NA -0.006566545 0.06395144 0.9948371 0.9198379 NA 0.02869245 NA FALSE NA 1 6.227 NA NA NA CLUH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:2700429 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 missense_variant 5.783065 0.94488 0.95007 0.706548 0.9973025 0 0.9997018 TRUE 8.15827e-06 ENSE00001360006_019 ENSE00001360006 019 17 2603643 2603812 - 33 93 44 C T 2603734 232 79 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCTTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700439 2700440 2700440 exon 35 0.3763441 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAAGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 263 560 0.9294505 0.9961669 0.9628087 0.992815 0.9968592 0.9968217 0.8428542 NA NA -0.06737116 0.1533127 0.9948371 0.9198379 NA 0.04297077 NA FALSE NA 1 7.464 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA CCT C,T 8.27e-06 17:2700440 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 missense_variant 1.450332 0.95717 0.96139 0.706548 0.9907453 0 0.9997018 TRUE 4.08563e-06 ENSE00001360006_021 ENSE00001360006 021 17 2603643 2603812 - 33 93 44 C T 2603739 234 74 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTTGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700444 2700445 2700445 exon 30 0.3225806 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACAACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 407 85 1 0.9544891 0.9772445 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.1116349 0.9948371 0.9198379 NA 0.05740661 NA FALSE NA 0 -2.533 NA NA NA CLUH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:2700445 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 missense_variant 0.906086 0.16552 0.03342 0.706548 0.5069109 0 0.9997018 TRUE 0.000118652 ENSE00001360006_023 ENSE00001360006 023 17 2603643 2603812 - 33 93 44 A C 2603773 236 40 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCCGAGAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700478 2700479 2700479 upstr_intron -5 -0.09090909 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCGGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 63 337 1 0.9597394 0.9798697 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.1168852 0.9948371 0.9198379 NA 0.06003179 NA FALSE NA 0 -0.121 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA CAG A,C 8.271e-06 17:2700479 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 splice_region_variant -0.43797 0.21139 0.10692 0.099367 0.5158465 0.179754 0.9997018 TRUE 4.19133e-06 ENSE00001360006_024 ENSE00001360006 024 17 2603643 2603812 - 33 93 44 G A 2603776 237 37 CTCAGACTGCCGGTCAGCAGAGGCTGCAGGCACCTTGAATATGGCCCTTTCTCGGAGCAGCCGCTCAGGCAGGTTCTTGCGAGGCAGCTCCCTCGTCGTCTGCAGCTCCTCATTCCAGTCTCGGGTCTGCAGAAAGATCAGGGAGGGAAAAACGAGCTCAGCCTGTGCCC 2700348 2700518 2700481 2700482 2700482 upstr_intron -8 -0.1590909 GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTTTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG mutant NA NA NA NA NA 70 322 1 1 1 0.992815 0.9968592 0.9968217 0.8428542 NA NA 0.003178332 0.1571458 0.9948371 0.9198379 NA 0.08016207 NA FALSE NA 0 -0.097 . downstream_gene_variant MODIFIER CLUH HGNC 29094 ENST00000576885 1 NA AGA G,A 1.654e-05 17:2700482 CLUH HGNC Symbol protein_coding 23277 ENSG00000132361 ENSE00003673816 splice_region_variant -0.145512 0.23195 0.07241 0.069865 0.4363833 0.159877 0.9997018 TRUE 1.26753e-05 ENSE00001360006_BRK ENSE00001360006 BRK 17 2603643 2603812 - 33 93 44 A,G; T,T NA NA NA GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCTTACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGCCGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG 2700348 2700518 NA NA NA NA NA NA GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCTTACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGCCGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG GGGCACAGGCTGAGCTCGTTTTTCCCTCCCTGATCTCTCTGCAGACCCGAGACTGGAATGAGGAGCTGCAGACGACGAGGGAGCTGCCTCGCAAGAACCTGCCTGAGCGGCTGCTCCGAGAAAGGGCCATATTCAAGGTGCCTGCAGCCTCTGCTGACCGGCAGTCTGAG control 348 181 0 0 0 545 382 0.03025957 0 0.01512978 0.992815 0.9968592 0.9968217 0.8428542 -0.992815 -0.9968592 -0.9665621 -0.8428542 0.9948371 0.9198379 -0.9948371 -0.9047081 0.09012892 TRUE TRUE NA NA NA NA NA CLUH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLUH NA NA NA ENSG00000132361 ENSE00003673816 NA NA NA NA NA NA NA 0.9997018 TRUE NA ENSE00001361959_000 ENSE00001361959 000 15 72546749 72546918 - 47 66 57 NA NA NA NA NA CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTGCCCAGTTCAA 72254407 72254577 NA NA NA NA NA NA CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTGCCCAGTTCAA CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTGCCCAGTTCAA natural 49 90 0.85 0.85 0.85 904 1146 0.8828933 0.9126891 0.8977912 0.85 0.85 0.8828933 0.9126891 0 0 0 0 0.85 0.8977912 0 0 0 FALSE FALSE NA NA NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARP6 NA NA NA ENSG00000137817 ENSE00003561452 NA NA NA NA NA NA NA 0.9974189 TRUE NA ENSE00001361959_001 ENSE00001361959 001 15 72546749 72546918 - 47 66 57 C T 72546759 1677 160 CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTACCCAGTTCAA 72254407 72254577 72254417 72254418 72254418 downstr_intron 37 1.804348 CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTACCCAGTTCAA CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTGCCCAGTTCAA mutant 12 29 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.85 0.8828933 0.9126891 0 0 NA NA 0.85 0.8977912 0 NA NA NA FALSE 0.001 0.499 . intron_variant&non_coding_transcript_variant MODIFIER PARP6 HGNC 26921 ENST00000413097 12/18 1 NA GCA C,T 1.654e-05 15:72254418 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003561452 intron_variant 0.190271 0.36669 0.23694 0.156188 0.7056455 0.564618 0.9974189 TRUE NA ENSE00001361959_007 ENSE00001361959 007 15 72546749 72546918 - 47 66 57 G A 72546772 1683 147 CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCTTCTCCTTTGCCTGCCCAGTTCAA 72254407 72254577 72254430 72254431 72254431 downstr_intron 24 1.521739 CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCTTCTCCTTTGCCTGCCCAGTTCAA CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTGCCCAGTTCAA mutant NA NA NA NA NA 300 265 0.9843333 0.8224588 0.903396 0.85 0.85 0.8828933 0.9126891 NA NA 0.10144 -0.09023033 0.85 0.8977912 NA 0.005604838 NA FALSE NA 0.001 0.441 NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:72254431 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003561452 intron_variant 0.423643 0.14156 0.04353 0.295142 0.73013 0.0851235 0.9974189 TRUE 4.06898e-06 ENSE00001361959_016 ENSE00001361959 016 15 72546749 72546918 - 47 66 57 C T 72546824 1692 95 CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAATGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTGCCCAGTTCAA 72254407 72254577 72254482 72254483 72254483 exon -29 0.5757576 CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAATGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTGCCCAGTTCAA CTTACTTTCCTCTACTTTTCTTTATTTGGTTCTTCTCTTCCCATTGATTCTCCACAGAAGAAGAATTATGAGCGGCTTCAGAAAGCTCTGGATAGTGTGATGTCTATTCGGGAGATGACCCAGGTATTCTGCCTTCTCTCTGTCCCCTCTCCTTTGCCTGCCCAGTTCAA mutant NA NA NA NA NA 1376 1086 0.9505448 0.9084727 0.9295088 0.85 0.85 0.8828933 0.9126891 NA NA 0.0676515 -0.004216407 0.85 0.8977912 NA 0.03171754 NA FALSE NA 1 7.173 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PARP6 HGNC 26921 ENST00000413097 12/19 1 NA ACT C,T 8.276e-06 15:72254483 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003561452 missense_variant 2.8787 0.9937 0.99257 0.732398 0.9944456 0 0.9974189 TRUE 4.06491e-06 ENSE00001362010_000 ENSE00001362010 000 15 72551896 72552065 - 53 54 63 NA NA NA NA NA CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 NA NA NA NA NA NA CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT natural 76 61 0.9844187 0.9856867 0.9850527 4154 2765 0.9936294 0.9672117 0.9804206 0.9844187 0.9856867 0.9936294 0.9672117 0 0 0 0 0.9850527 0.9804206 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARP6 NA NA NA ENSG00000137817 ENSE00003504865 NA NA NA NA NA NA NA 0.9974189 TRUE NA ENSE00001362010_003 ENSE00001362010 003 15 72551896 72552065 - 53 54 63 C G 72551910 1722 156 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTCTTGTCTGACCCATT 72259554 72259724 72259568 72259569 72259569 downstr_intron 39 1.75 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTCTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 2903 41 0.9993033 1 0.9996516 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.005673863 0.03278825 0.9850527 0.9804206 NA 0.01923106 NA FALSE NA 0 -1.525 NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:72259569 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.359621 0.15802 0.03053 0.156188 0.6569588 0.0656782 0.9974189 TRUE 4.07907e-06 ENSE00001362010_005 ENSE00001362010 005 15 72551896 72552065 - 53 54 63 G A 72551917 1724 149 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCTTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259575 72259576 72259576 downstr_intron 32 1.615385 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCTTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 968 834 0.9911785 0.8933077 0.9422431 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.002450962 -0.07390404 0.9850527 0.9804206 NA -0.0381775 NA FALSE NA 0.001 0.051 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 9/19 1 NA AGG G,A 8.274e-06 15:72259576 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.158719 0.19257 0.06698 0.156188 0.5060115 0.0656782 0.9974189 TRUE 4.07286e-06 ENSE00001362010_006 ENSE00001362010 006 15 72551896 72552065 - 53 54 63 G A 72551918 1725 148 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCTCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259576 72259577 72259577 downstr_intron 31 1.596154 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCTCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 663 1821 1 0.924342 0.962171 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.006370573 -0.04286977 0.9850527 0.9804206 NA -0.0182496 NA FALSE NA 0 -1.205 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 9/19 1 NA GGG G,A 8.274e-06 15:72259577 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.103862 0.11524 0.02286 0.156188 0.5518858 0.0656782 0.9974189 TRUE 8.13981e-06 ENSE00001362010_008 ENSE00001362010 008 15 72551896 72552065 - 53 54 63 G A 72551924 1727 142 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCTGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259582 72259583 72259583 downstr_intron 25 1.480769 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCTGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 499 418 1 0.9968345 0.9984172 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.006370573 0.02962271 0.9850527 0.9804206 NA 0.01799664 NA FALSE NA 0.023 0.246 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 9/19 rs374938580 1 NA A:0 A:0.0001 CGG G,A 8.274e-06 15:72259583 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.246051 0.21095 0.11535 0.156188 0.5764043 0.0656782 0.9974189 TRUE 4.06765e-06 ENSE00001362010_009 ENSE00001362010 009 15 72551896 72552065 - 53 54 63 G C 72551925 1728 141 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTGCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259583 72259584 72259584 downstr_intron 24 1.461538 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTGCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 608 367 0.9993212 0.9908408 0.995081 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.005691735 0.02362904 0.9850527 0.9804206 NA 0.01466039 NA FALSE NA 0.04 2.146 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 9/19 1 NA GGA G,C 8.274e-06 15:72259584 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.033381 0.32864 0.43304 0.156188 0.519321 0.0656782 0.9974189 TRUE 4.06686e-06 ENSE00001362010_010 ENSE00001362010 010 15 72551896 72552065 - 53 54 63 T G 72551934 1729 132 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAACTTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259592 72259593 72259593 downstr_intron 15 1.288462 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAACTTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 239 782 0.9928705 0.9992667 0.9960686 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.0007589207 0.0320549 0.9850527 0.9804206 NA 0.01564799 NA FALSE NA 0 0.727 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:72259593 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.522899 0.26182 0.19543 0.295142 0.5708872 0.0656782 0.9974189 TRUE 4.0656e-06 ENSE00001362010_011 ENSE00001362010 011 15 72551896 72552065 - 53 54 63 T C 72551934 1730 132 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAGTTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259592 72259593 72259593 downstr_intron 15 1.288462 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAGTTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 373 92 1 0.9860541 0.993027 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.006370573 0.01884234 0.9850527 0.9804206 NA 0.01260646 NA FALSE NA 0 0.727 NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARP6 NA NA NA ENSG00000137817 ENSE00003504865 intron_variant 0.424086 0.19894 0.02846 0.295142 0.582913 0.0656782 0.9974189 TRUE 4.0656e-06 ENSE00001362010_012 ENSE00001362010 012 15 72551896 72552065 - 53 54 63 T C 72551935 1731 131 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAGATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259593 72259594 72259594 downstr_intron 14 1.269231 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAGATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 1297 928 0.9924943 0.9935602 0.9930272 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.001135139 0.0263484 0.9850527 0.9804206 NA 0.01260663 NA FALSE NA 0 -0.823 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 9/19 1 NA TTT T,C 8.273e-06 15:72259594 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.572084 0.16096 0.02994 0.295142 0.5340049 0.0656782 0.9974189 TRUE 4.0657e-06 ENSE00001362010_013 ENSE00001362010 013 15 72551896 72552065 - 53 54 63 G A 72551943 1732 123 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATTAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259601 72259602 72259602 downstr_intron 6 1.115385 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATTAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 468 1282 1 0.9867431 0.9933716 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.006370573 0.01953136 0.9850527 0.9804206 NA 0.01295097 NA FALSE NA 0.705 2.9 . splice_region_variant&intron_variant LOW PARP6 HGNC 26921 ENST00000419739 9/19 1 NA TGA G,A 8.274e-06 15:72259602 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 splice_region_variant 1.591835 0.52581 0.82885 0.295142 0.8461571 0.360317 0.9974189 TRUE NA ENSE00001362010_014 ENSE00001362010 014 15 72551896 72552065 - 53 54 63 C T 72551954 1733 112 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCATTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259612 72259613 72259613 exon -6 0.9074074 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCATTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 242 1351 1 0.997511 0.9987555 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.006370573 0.03029924 0.9850527 0.9804206 NA 0.01833491 NA FALSE NA 1 5.463 . missense_variant MODERATE PARP6 HGNC 26921 ENST00000419739 9/20 rs201181668 1 tolerated(0.1) possibly_damaging(0.788) NA T:0.0003 T:0.0002 ACG C,T 1.655e-05 15:72259613 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 missense_variant 5.733289 0.99268 0.9903 0.706548 0.9988163 0 0.9974189 TRUE 3.25013e-05 ENSE00001362010_015 ENSE00001362010 015 15 72551896 72552065 - 53 54 63 G A 72551955 1734 111 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTTGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259613 72259614 72259614 exon -7 0.8888889 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTTGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 310 397 0.9998672 0.9999041 0.9998856 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.006237745 0.03269233 0.9850527 0.9804206 NA 0.01946504 NA FALSE NA 0.005 -1.07 . synonymous_variant LOW PARP6 HGNC 26921 ENST00000419739 9/20 rs372878175 1 NA A:0.0003 A:0 CGA G,A 4.964e-05 15:72259614 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 missense_variant 1.556898 0.12233 0.03715 0.706548 0.8978526 0 0.9974189 TRUE 4.87543e-05 ENSE00001362010_016 ENSE00001362010 016 15 72551896 72552065 - 53 54 63 A T 72551979 1735 87 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATACCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259637 72259638 72259638 exon 24 0.4444444 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATACCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 954 432 0.9944336 0.9207824 0.957608 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.000804137 -0.04642939 0.9850527 0.9804206 NA -0.02281263 NA FALSE NA 1 0.993 . synonymous_variant LOW PARP6 HGNC 26921 ENST00000419739 9/20 1 NA GAA A,T 8.272e-06 15:72259638 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 missense_variant 0.657211 0.97139 0.86672 0.706548 0.8881229 0 0.9974189 TRUE 4.06256e-06 ENSE00001362010_017 ENSE00001362010 017 15 72551896 72552065 - 53 54 63 A G 72552001 1736 65 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGCCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259659 72259660 72259660 exon 2 0.03703704 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGCCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 173 646 0.9355127 0.9967047 0.9661087 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.05811674 0.02949296 0.9850527 0.9804206 NA -0.01431189 NA FALSE NA 1 6.836 . missense_variant&splice_region_variant MODERATE PARP6 HGNC 26921 ENST00000419739 9/20 1 tolerated(0.26) benign(0.001) NA GAC A,G 1.655e-05 15:72259660 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 missense_variant 2.152 0.98339 0.94817 0.706548 0.9711555 0 0.9974189 TRUE 1.21909e-05 ENSE00001362010_018 ENSE00001362010 018 15 72551896 72552065 - 53 54 63 C G 72552002 1737 64 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGCTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259660 72259661 72259661 exon 1 0.01851852 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGCTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant 47 76 0.85 0.85 0.85 436 461 0.8 0.8038251 0.8019125 0.9844187 0.9856867 0.9936294 0.9672117 -0.1344187 -0.1356867 -0.1936294 -0.1633867 0.9850527 0.9804206 -0.1350527 -0.178508 0.04345534 FALSE FALSE 1 7.175 . missense_variant&splice_region_variant MODERATE PARP6 HGNC 26921 ENST00000419739 9/20 1 tolerated(0.2) benign(0.044) NA ACC C,G 8.273e-06 15:72259661 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 missense_variant 2.852094 0.99285 0.9945 0.706548 0.9909642 0 0.9974189 TRUE 8.12711e-06 ENSE00001362010_019 ENSE00001362010 019 15 72551896 72552065 - 53 54 63 G C 72552006 1738 60 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCAGCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259664 72259665 72259665 upstr_intron -4 -0.04761905 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCAGCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 862 767 0.9879794 0.9979324 0.9929559 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.00564999 0.03072066 0.9850527 0.9804206 NA 0.01253534 NA FALSE NA 0.012 0.243 . splice_region_variant&intron_variant LOW PARP6 HGNC 26921 ENST00000419739 8/19 rs376150072 1 NA C:0.0003 C:0 GGT G,C 4.136e-05 15:72259665 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 splice_region_variant 0.424274 0.20418 0.20185 0.062308 0.5829391 0.301159 0.9974189 TRUE 2.03207e-05 ENSE00001362010_020 ENSE00001362010 020 15 72551896 72552065 - 53 54 63 G C 72552010 1739 56 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTGTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259668 72259669 72259669 upstr_intron -8 -0.1111111 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTGTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 291 344 0.9579179 0.9956821 0.9768 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.03571149 0.02847039 0.9850527 0.9804206 NA -0.003620552 NA FALSE NA 0.581 1.353 . splice_region_variant&intron_variant LOW PARP6 HGNC 26921 ENST00000419739 8/19 1 NA AGA G,C 8.272e-06 15:72259669 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 splice_region_variant 0.553885 0.41249 0.56068 0.062308 0.5296164 0.230627 0.9974189 TRUE 4.06517e-06 ENSE00001362010_021 ENSE00001362010 021 15 72551896 72552065 - 53 54 63 G C 72552019 1740 47 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTGTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259677 72259678 72259678 upstr_intron -17 -0.2539683 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTGTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 185 197 0.9991706 0.9972488 0.9982097 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.005541214 0.03003701 0.9850527 0.9804206 NA 0.01778911 NA FALSE NA 0.937 1.239 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 8/19 1 NA AGA G,C 8.272e-06 15:72259678 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.658062 0.93166 0.67759 0.062308 0.7078481 0.134965 0.9974189 TRUE 8.13292e-06 ENSE00001362010_022 ENSE00001362010 022 15 72551896 72552065 - 53 54 63 C T 72552028 1741 38 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACAGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259686 72259687 72259687 upstr_intron -26 -0.3968254 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACAGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 513 241 1 1 1 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.006370573 0.03278825 0.9850527 0.9804206 NA 0.01957941 NA FALSE NA 0 -1.006 rs115738537 intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 8/19 rs115738537 1 T:0.0108 T:0.0401 T:0 NA T:0 T:0.001 T:0 T:0.027 T:0.0002 CCG C,T 0.002945 15:72259687 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 1.077686 0.11552 0.06161 0.062308 0.7506662 0.101007 0.9974189 TRUE 0.0026397 ENSE00001362010_023 ENSE00001362010 023 15 72551896 72552065 - 53 54 63 G A 72552029 1742 37 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCATGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259687 72259688 72259688 upstr_intron -27 -0.4126984 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCATGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 203 164 0.9997971 0.9997676 0.9997824 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.006167671 0.03255586 0.9850527 0.9804206 NA 0.01936177 NA FALSE NA 0.387 0.565 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:72259688 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 0.927277 0.13881 0.01826 0.062308 0.7288517 0.117855 0.9974189 TRUE 3.259e-05 ENSE00001362010_024 ENSE00001362010 024 15 72551896 72552065 - 53 54 63 G T 72552029 1743 37 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCAAGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259687 72259688 72259688 upstr_intron -27 -0.4126984 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCAAGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 171 417 0.9870425 0.9776225 0.9823325 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.006586974 0.01041078 0.9850527 0.9804206 NA 0.001911902 NA FALSE NA 0.387 0.565 NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARP6 NA NA NA ENSG00000137817 ENSE00003504865 intron_variant 0.765709 0.20221 0.33517 0.062308 0.7741189 0.117855 0.9974189 TRUE 4.07375e-06 ENSE00001362010_025 ENSE00001362010 025 15 72551896 72552065 - 53 54 63 C A 72552034 1744 32 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGTTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259692 72259693 72259693 upstr_intron -32 -0.4920635 CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGTTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant 21 11 0.85 0.85 0.85 546 293 0.9988639 1 0.9994319 0.9844187 0.9856867 0.9936294 0.9672117 -0.1344187 -0.1356867 0.005234467 0.03278825 0.9850527 0.9804206 -0.1350527 0.01901136 0.1540641 FALSE FALSE 0.003 -0.313 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 8/19 1 NA ACC C,A 1.654e-05 15:72259693 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 1.533316 0.24031 0.12176 0.062308 0.7610923 0.069282 0.9974189 TRUE 1.22262e-05 ENSE00001362010_026 ENSE00001362010 026 15 72551896 72552065 - 53 54 63 T C 72552039 1745 27 CAGGTCTGTCTAGGCCCCAGCTTCATGGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259697 72259698 72259698 upstr_intron -37 -0.5714286 CAGGTCTGTCTAGGCCCCAGCTTCATGGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 614 1146 0.9324835 0.9984576 0.9654706 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.06114594 0.03124588 0.9850527 0.9804206 NA -0.01495003 NA FALSE NA 0 -0.153 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 8/19 rs572357499 1 NA CTA T,C 4.136e-05 15:72259698 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 1.346981 0.16794 0.03808 0.062308 0.8035862 0.069282 0.9974189 TRUE 3.26333e-05 ENSE00001362010_029 ENSE00001362010 029 15 72551896 72552065 - 53 54 63 T G 72552041 1748 25 CAGGTCTGTCTAGGCCCCAGCTTCCTAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259699 72259700 72259700 upstr_intron -39 -0.6031746 CAGGTCTGTCTAGGCCCCAGCTTCCTAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 4613 1554 0.984995 0.9985854 0.9917902 0.9844187 0.9856867 0.9936294 0.9672117 NA NA -0.00863446 0.03137369 0.9850527 0.9804206 NA 0.01136961 NA FALSE NA 0 -0.196 NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:72259700 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 1.256071 0.16573 0.03401 0.062308 0.7676069 0.0981525 0.9974189 TRUE 4.07904e-06 ENSE00001362010_032 ENSE00001362010 032 15 72551896 72552065 - 53 54 63 C T 72552053 1751 13 CAGGTCTGTCTAAGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 72259711 72259712 72259712 upstr_intron -51 -0.7936508 CAGGTCTGTCTAAGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT mutant NA NA NA NA NA 1071 1256 0.9958264 0.9567345 0.9762804 0.9844187 0.9856867 0.9936294 0.9672117 NA NA 0.00219696 -0.01047726 0.9850527 0.9804206 NA -0.004140148 NA FALSE NA 0.003 0.207 . intron_variant MODIFIER PARP6 HGNC 26921 ENST00000419739 8/19 rs572717923 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 8.271e-06 15:72259712 PARP6 HGNC Symbol protein_coding 31818 ENSG00000137817 ENSE00003504865 intron_variant 1.574961 0.16435 0.14272 0.062308 0.8242135 0.0533323 0.9974189 TRUE 8.23201e-06 ENSE00001362010_BRK ENSE00001362010 BRK 15 72551896 72552065 - 53 54 63 A,G; T,T NA NA NA CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCTTGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGCCAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT 72259554 72259724 NA NA NA NA NA NA CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCTTGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGCCAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT CAGGTCTGTCTAGGCCCCAGCTTCATAGGAGGTTCACGGGGTCTGTCTTTTTACTCTCACCAGGTCAGTGGTCACTGCAAGAACATTCCCACTCTGGAGTATGGATTCCTCGTTCAGGTAATCAAGTCAAAATTGTCACTCCGAAGCCCTTCCCTGTTGTCTGACCCATT control 154 87 0.1579446 0 0.07897228 882 252 0 0.01433066 0.00716533 0.9844187 0.9856867 0.9936294 0.9672117 -0.8264741 -0.9856867 -0.9936294 -0.9528811 0.9850527 0.9804206 -0.9060804 -0.9732553 0.06717483 TRUE TRUE NA NA NA NA NA PARP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARP6 NA NA NA ENSG00000137817 ENSE00003504865 NA NA NA NA NA NA NA 0.9974189 TRUE NA ENSE00001362517_000 ENSE00001362517 000 1 10331509 10331678 + 51 78 41 NA NA NA NA NA CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 NA NA NA NA NA NA CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC natural 30 97 0.8315103 0.8159566 0.8237334 4654 1705 0.6886993 0.8212298 0.7549646 0.8315103 0.8159566 0.6886993 0.8212298 0 0 0 0 0.8237334 0.7549646 0 0 0 FALSE FALSE NA NA NA NA NA KIF1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF1B NA NA NA ENSG00000054523 ENSE00001362517 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001362517_001 ENSE00001362517 001 1 10331509 10331678 + 51 78 41 T C 10331527 193 19 CTTCTATCTTGCTTATTTCTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271468 10271469 10271469 upstr_intron -33 -0.627451 CTTCTATCTTGCTTATTTCTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 510 766 0.9412566 0.9809867 0.9611216 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.2525572 0.1597568 0.8237334 0.7549646 NA 0.206157 NA FALSE NA 0 0.498 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 6/47 rs201800715 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 TTT T,C 5.765e-05 1:10271469 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 intron_variant 0.168637 0.26252 0.10678 0.062308 0.6591235 0.216181 1 TRUE 3.65619e-05 ENSE00001362517_002 ENSE00001362517 002 1 10331509 10331678 + 51 78 41 G A 10331529 194 21 CTTCTATCTTGCTTATTTTTAAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271470 10271471 10271471 upstr_intron -31 -0.5882353 CTTCTATCTTGCTTATTTTTAAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 64 15 0.8 0.8 0.8 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.1113007 -0.02122984 0.8237334 0.7549646 NA 0.04503541 NA FALSE NA 0 -1.443 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 6/47 1 NA TGA G,A 8.236e-06 1:10271471 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 intron_variant -0.045818 0.11792 0.05371 0.062308 0.5814438 0.125021 1 TRUE 4.06309e-06 ENSE00001362517_005 ENSE00001362517 005 1 10331509 10331678 + 51 78 41 C A 10331538 197 30 CTTCTATCTTGCTTATTTTTGAATTGCCCACATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271479 10271480 10271480 upstr_intron -22 -0.4117647 CTTCTATCTTGCTTATTTTTGAATTGCCCACATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 274 174 0.8 0.8 0.8 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.1113007 -0.02122984 0.8237334 0.7549646 NA 0.04503541 NA FALSE NA 0 -0.184 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 6/47 1 NA CCC C,A 8.236e-06 1:10271480 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 intron_variant 0.245701 0.25161 0.02939 0.062308 0.6146873 0.124019 1 TRUE 4.0624e-06 ENSE00001362517_008 ENSE00001362517 008 1 10331509 10331678 + 51 78 41 T C 10331554 200 46 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTCATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271495 10271496 10271496 upstr_intron -6 -0.09803922 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTCATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 1246 690 0.7948806 0.8058291 0.8003548 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.1061812 -0.01540075 0.8237334 0.7549646 NA 0.04539024 NA FALSE NA 0.458 0.733 . splice_region_variant&intron_variant LOW KIF1B HGNC 16636 ENST00000377081 6/47 1 NA TTA T,C 1.647e-05 1:10271496 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 splice_region_variant 0.751756 0.31504 0.08138 0.062308 0.7029661 0.380148 1 TRUE 1.21854e-05 ENSE00001362517_009 ENSE00001362517 009 1 10331509 10331678 + 51 78 41 A C 10331568 201 60 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAACATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271509 10271510 10271510 exon 9 0.1153846 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAACATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 282 705 0.9874492 0.9927756 0.9901124 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.2987498 0.1715458 0.8237334 0.7549646 NA 0.2351478 NA FALSE NA 1 2.033 . missense_variant MODERATE KIF1B HGNC 16636 ENST00000377081 7/48 1 deleterious(0) probably_damaging(0.974) NA AAA A,C 8.236e-06 1:10271510 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 missense_variant 5.281856 0.98148 0.94038 0.706548 0.9979873 0 1 TRUE 4.0622e-06 ENSE00001362517_011 ENSE00001362517 011 1 10331509 10331678 + 51 78 41 A C 10331592 203 84 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGCAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271533 10271534 10271534 exon 33 0.4230769 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGCAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 1339 181 0 0 0 0.8315103 0.8159566 0.6886993 0.8212298 NA NA -0.6886993 -0.8212298 0.8237334 0.7549646 NA -0.7549646 NA TRUE NA 0.991 0.309 . synonymous_variant LOW KIF1B HGNC 16636 ENST00000377081 7/48 rs537439756 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 GAA A,C 8.236e-06 1:10271534 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 synonymous_variant 0.050177 0.97767 0.83847 0.706548 0.7515594 0 1 TRUE 4.06184e-06 ENSE00001362517_015 ENSE00001362517 015 1 10331509 10331678 + 51 78 41 T C 10331645 207 137 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTACTTTAGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271586 10271587 10271587 downstr_intron 8 1.2 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTACTTTAGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 381 23 0.8 0.8108715 0.8054358 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.1113007 -0.01035831 0.8237334 0.7549646 NA 0.05047117 NA FALSE NA 0.054 0.289 . splice_region_variant&intron_variant LOW KIF1B HGNC 16636 ENST00000377081 7/47 rs373158213 1 NA C:0 C:0.0001 ATT T,C 8.236e-06 1:10271587 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 splice_region_variant 0.680649 0.22887 0.04137 0.099367 0.576579 0.340435 1 TRUE 4.06273e-06 ENSE00001362517_016 ENSE00001362517 016 1 10331509 10331678 + 51 78 41 A G 10331649 208 141 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTGGCAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271590 10271591 10271591 downstr_intron 12 1.3 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTGGCAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 804 801 0.8 0.8229738 0.8114869 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.1113007 0.001743919 0.8237334 0.7549646 NA 0.05652229 NA FALSE NA 0.006 1.084 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 7/47 1 NA TAG A,G 8.236e-06 1:10271591 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 intron_variant 1.309392 0.16497 0.04028 0.099367 0.7309249 0.247414 1 TRUE 4.0627e-06 ENSE00001362517_017 ENSE00001362517 017 1 10331509 10331678 + 51 78 41 G A 10331650 209 142 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAACAAATAAATGGCCTGATCAATAAATGGC 10271450 10271620 10271591 10271592 10271592 downstr_intron 13 1.325 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAACAAATAAATGGCCTGATCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 55 1849 0.8076232 0.8192264 0.8134248 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.1189238 -0.002003406 0.8237334 0.7549646 NA 0.05846022 NA FALSE NA 0.001 -0.536 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 7/47 1 NA AGC G,A 8.236e-06 1:10271592 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 intron_variant 1.475418 0.18999 0.01063 0.099367 0.7757834 0.247414 1 TRUE 4.06303e-06 ENSE00001362517_018 ENSE00001362517 018 1 10331509 10331678 + 51 78 41 T C 10331667 210 159 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGACCAATAAATGGC 10271450 10271620 10271608 10271609 10271609 downstr_intron 30 1.75 CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGACCAATAAATGGC CTTCTATCTTGCTTATTTTTGAATTGCCCCCATGTTATTGTTCTTTATCAGGTCAGTAAAATCAGCTTGGTGGATCTAGCAGGAAGTGAACGAGCTGATTCAACTGGTGCCAAAGGGACTCGATTAAAGGTATTTATTTTAGCAAATAAATGGCCTGATCAATAAATGGC mutant NA NA NA NA NA 651 12 0.865828 0.8 0.832914 0.8315103 0.8159566 0.6886993 0.8212298 NA NA 0.1771286 -0.02122984 0.8237334 0.7549646 NA 0.07794938 NA FALSE NA 0.061 1.25 . intron_variant MODIFIER KIF1B HGNC 16636 ENST00000377081 7/47 1 NA ATC T,C 8.237e-06 1:10271609 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362517 intron_variant 0.026897 0.17841 0.03642 0.099367 0.4577441 0.121008 1 TRUE 4.06425e-06 ENSE00001362525_000 ENSE00001362525 000 1 10321906 10322075 + 57 66 47 NA NA NA NA NA TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT 10261847 10262017 NA NA NA NA NA NA TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT natural NA NA NA NA NA 1678 585 0.9583478 0.9851139 0.9717308 NA NA 0.9583478 0.9851139 NA NA 0 0 NA 0.9717308 NA 0 NA FALSE NA NA NA NA NA NA KIF1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF1B NA NA NA ENSG00000054523 ENSE00001362525 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001362525_009 ENSE00001362525 009 1 10321906 10322075 + 57 66 47 A G 10321990 177 85 TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCGATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT 10261847 10262017 10261931 10261932 10261932 exon 28 0.4242424 TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCGATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT mutant NA NA NA NA NA 115 32 1 1 1 NA NA 0.9583478 0.9851139 NA NA 0.04165223 0.01488613 NA 0.9717308 NA 0.02826918 NA FALSE NA 1 7.521 . missense_variant MODERATE KIF1B HGNC 16636 ENST00000377081 4/48 1 tolerated(0.05) benign(0.009) NA CAA A,G 8.237e-06 1:10261932 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362525 missense_variant 2.758602 0.98503 0.99229 0.706548 0.9950324 0 1 TRUE 8.12559e-06 ENSE00001362525_014 ENSE00001362525 014 1 10321906 10322075 + 57 66 47 A C 10322010 182 105 TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGACATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT 10261847 10262017 10261951 10261952 10261952 exon -19 0.7272727 TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGACATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT mutant NA NA NA NA NA 82 181 1 0.9989133 0.9994566 NA NA 0.9583478 0.9851139 NA NA 0.04165223 0.01379941 NA 0.9717308 NA 0.02772582 NA FALSE NA 0.604 -0.117 . missense_variant MODERATE KIF1B HGNC 16636 ENST00000377081 4/48 1 tolerated(0.51) benign(0.063) NA AAA A,C 8.237e-06 1:10261952 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362525 missense_variant 2.260447 0.96264 0.65537 0.706548 0.9641083 0 1 TRUE 8.12632e-06 ENSE00001362525_016 ENSE00001362525 016 1 10321906 10322075 + 57 66 47 A G 10322035 184 130 TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTGCAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT 10261847 10262017 10261976 10261977 10261977 downstr_intron 7 1.152174 TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTGCAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT mutant NA NA NA NA NA 668 93 0.7826103 0.955788 0.8691992 NA NA 0.9583478 0.9851139 NA NA -0.1757374 -0.02932591 NA 0.9717308 NA -0.1025317 NA FALSE NA 0 -0.878 . splice_region_variant&intron_variant LOW KIF1B HGNC 16636 ENST00000377081 4/47 rs370895789 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 G:0.0002 G:0 TAC A,G 3.295e-05 1:10261977 KIF1B HGNC Symbol protein_coding 170798 ENSG00000054523 ENSE00001362525 splice_region_variant -0.436537 0.14086 0.04134 0.099367 0.3998999 0.177002 1 TRUE 3.65943e-05 ENSE00001362525_BRK ENSE00001362525 BRK 1 10321906 10322075 + 57 66 47 A,G; T,T NA NA NA TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTTTTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGCCGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT 10261847 10262017 NA NA NA NA NA NA TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTTTTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGCCGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT TGACTTAGTACTCCTCTCATTTGTGCTCTTCATGCCTCTCTCATTCTACTTCCCTAGTTATGTGAAGAACTTTTTGAGAAAATCAATGACAACTGTAATGAAGAAATGTCTTACTCTGTAGAGGTGAGTACAGCCGTGAGTTGACACCGTAAGCCCTTGTTTTCCATTCT control 38 14 0 0 0 NA NA NA NA NA NA NA 0.9583478 0.9851139 NA NA NA NA NA 0.9717308 NA NA NA NA NA NA NA NA NA NA KIF1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF1B NA NA NA ENSG00000054523 ENSE00001362525 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001362586_000 ENSE00001362586 000 12 75895662 75895831 - 41 78 51 NA NA NA NA NA GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 NA NA NA NA NA NA ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC natural NA NA NA NA NA 2687 1681 0.9674036 0.9188161 0.9431099 NA NA 0.9674036 0.9188161 NA NA 0 0 NA 0.9431099 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003653005 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001362586_018 ENSE00001362586 018 12 75895662 75895831 - 41 78 51 T C 75895762 2518 70 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACCAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75501981 75501982 75501982 exon 19 0.2435897 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTGGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 655 409 0.9864353 0.9990641 0.9927497 NA NA 0.9674036 0.9188161 NA NA 0.01903172 0.08024791 NA 0.9431099 NA 0.04963981 NA FALSE NA 1 4.959 NA NA NA KRR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRR1 NA NA NA ENSG00000111615 ENSE00003653005 missense_variant 4.921836 0.97063 0.97912 0.706548 0.9982382 0 0.01935058 FALSE 4.07289e-05 ENSE00001363229_000 ENSE00001363229 000 8 145500173 145500342 - 39 81 50 NA NA NA NA NA AAGGGTACCCTGTATCCCCTGAAGTAACCATTTTCTCTCTCTCTCTGCAGGCCAGCACTCCTTGCCCGAGGACAGAGATGGCGAGCGCCCGGATTGGGGATGAGTATGCGGAGGACAGCTCTGATGAGGAGGTAGGACTGGGGCTGCTTCCCACTGGGCAGGGTGGGGCG 144276184 144276354 NA NA NA NA NA NA AAGGGTACCCTGTATCCCCTGAAGTAACCATTTTCTCTCTCTCTCTGCAGGCCAGCACTCCTTGCCCGAGGACAGAGATGGCGAGCGCCCGGATTGGGGATGAGTATGCGGAGGACAGCTCTGATGAGGAGGTAGGACTGGGGCTGCTTCCCACTGGGCAGGGTGGGGCG AAGGGTACCCTGTATCCCCTGAAGTAACCATTTTCTCTCTCTCTCTGCAGGCCAGCACTCCTTGCCCGAGGACAGAGATGGCGAGCGCCCGGATTGGGGATGAGTATGCGGAGGACAGCTCTGATGAGGAGGTAGGACTGGGGCTGCTTCCCACTGGGCAGGGTGGGGCG natural 15 10 0.9125547 0.9380066 0.9252807 399 446 0.8614422 0.6662616 0.7638519 0.9125547 0.9380066 0.8614422 0.6662616 0 0 0 0 0.9252807 0.7638519 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00002584016 NA NA NA NA NA NA NA NA NA NA ENSE00001365809_000 ENSE00001365809 000 11 59426300 59426469 - 39 81 50 NA NA NA NA NA CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 NA NA NA NA NA NA CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC natural 170 160 0.9699498 0.9964068 0.9831783 16776 19303 0.9586752 0.95137 0.9550226 0.9699498 0.9964068 0.9586752 0.95137 0 0 0 0 0.9831783 0.9550226 0 0 0 FALSE FALSE NA NA NA NA NA PATL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PATL1 NA NA NA ENSG00000166889 ENSE00001365809 NA NA NA NA NA NA NA 0.9919736 TRUE NA ENSE00001365809_001 ENSE00001365809 001 11 59426300 59426469 - 39 81 50 T G 59426312 1303 158 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAACATTTATAATATC 59658826 59658996 59658838 59658839 59658839 downstr_intron 27 1.710526 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAACATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant 89 30 0.9704035 0.9867677 0.9785856 3139 2475 0.9106482 0.9972152 0.9539317 0.9699498 0.9964068 0.9586752 0.95137 0.0004537095 -0.00963906 -0.04802701 0.04584514 0.9831783 0.9550226 -0.004592675 -0.001090933 0.003501742 FALSE FALSE 0.001 0.59 . intron_variant MODIFIER PATL1 HGNC 26721 ENST00000300146 4/18 1 NA TTT T 4.294e-05 11:59658839 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 intron_variant 0.401599 0.15014 0.07953 0.295142 0.5852546 0.0682314 0.9919736 TRUE 7.21157e-06 ENSE00001365809_002 ENSE00001365809 002 11 59426300 59426469 - 39 81 50 A G 59426319 1304 151 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTCACATAAAATTTATAATATC 59658826 59658996 59658845 59658846 59658846 downstr_intron 20 1.526316 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTCACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant NA NA NA NA NA 1277 1110 0.9970734 0.9974266 0.99725 0.9699498 0.9964068 0.9586752 0.95137 NA NA 0.03839819 0.04605663 0.9831783 0.9550226 NA 0.04222741 NA FALSE NA 0 0.447 . intron_variant MODIFIER PATL1 HGNC 26721 ENST00000300146 4/18 1 NA TAA A 4.289e-05 11:59658846 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 intron_variant -0.067431 0.15218 0.06405 0.295142 0.3848369 0.0682314 0.9919736 TRUE 7.05069e-06 ENSE00001365809_003 ENSE00001365809 003 11 59426300 59426469 - 39 81 50 T G 59426329 1305 141 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATCTTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 59658855 59658856 59658856 downstr_intron 10 1.263158 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATCTTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant 20 29 1 1 1 2904 3718 0.9984876 0.9941538 0.9963207 0.9699498 0.9964068 0.9586752 0.95137 0.03005018 0.003593194 0.03981243 0.04278375 0.9831783 0.9550226 0.01682168 0.04129809 0.02447641 FALSE FALSE 0 -0.619 . intron_variant MODIFIER PATL1 HGNC 26721 ENST00000300146 4/18 1 NA ATA T 4.293e-05 11:59658856 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 intron_variant 0.829796 0.17939 0.06074 0.295142 0.5998145 0.185572 0.9919736 TRUE 7.06275e-06 ENSE00001365809_004 ENSE00001365809 004 11 59426300 59426469 - 39 81 50 G C 59426350 1306 120 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCAGTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 59658876 59658877 59658877 exon -12 0.8641975 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCAGTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant 23 27 1 1 1 750 2258 0.9993865 0.998106 0.9987462 0.9699498 0.9964068 0.9586752 0.95137 0.03005018 0.003593194 0.04071127 0.04673601 0.9831783 0.9550226 0.01682168 0.04372364 0.02690196 FALSE FALSE 1 2.405 . missense_variant MODERATE PATL1 HGNC 26721 ENST00000300146 4/19 1 tolerated(0.43) probably_damaging(0.933) NA AGT G 4.238e-05 11:59658877 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 missense_variant 3.782389 0.97583 0.95749 0.706548 0.9970369 0 0.9919736 TRUE 6.69981e-06 ENSE00001365809_005 ENSE00001365809 005 11 59426300 59426469 - 39 81 50 G T 59426365 1307 105 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGAGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 59658891 59658892 59658892 exon -27 0.6790123 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGAGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant NA NA NA NA NA 2440 6345 0.9956232 0.9969639 0.9962936 0.9699498 0.9964068 0.9586752 0.95137 NA NA 0.03694798 0.04559393 0.9831783 0.9550226 NA 0.04127096 NA FALSE NA 1 5.707 rs116027464 synonymous_variant LOW PATL1 HGNC 26721 ENST00000300146 4/19 rs116027464 1 T:0.0042 T:0.0159 T:0 NA T:0 T:0 T:0 T:0.0108 T:0 CGC G 0.001092 11:59658892 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 synonymous_variant 1.367072 0.96469 0.9675 0.706548 0.6927798 0 0.9919736 TRUE 0.000775671 ENSE00001365809_006 ENSE00001365809 006 11 59426300 59426469 - 39 81 50 C T 59426386 1308 84 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGAATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 59658912 59658913 59658913 exon 34 0.4197531 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGAATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant 34 24 0.9977004 0.9992812 0.9984908 1235 979 0.8029669 1 0.9014835 0.9699498 0.9964068 0.9586752 0.95137 0.02775053 0.002874435 -0.1557083 0.04862999 0.9831783 0.9550226 0.01531248 -0.05353915 0.06885163 FALSE FALSE 1 4.491 . missense_variant MODERATE PATL1 HGNC 26721 ENST00000300146 4/19 1 tolerated(0.16) probably_damaging(0.97) NA TCC C 8.302e-05 11:59658913 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 missense_variant 4.984755 0.98568 0.97135 0.719381 0.9986263 0 0.9919736 TRUE 1.33221e-05 ENSE00001365809_007 ENSE00001365809 007 11 59426300 59426469 - 39 81 50 A G 59426391 1309 79 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTACCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 59658917 59658918 59658918 exon 29 0.3580247 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTACCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant NA NA NA NA NA 1701 1941 0.8617229 0.9801753 0.9209491 0.9699498 0.9964068 0.9586752 0.95137 NA NA -0.09695234 0.02880528 0.9831783 0.9550226 NA -0.03407353 NA FALSE NA 1 5.395 . missense_variant MODERATE PATL1 HGNC 26721 ENST00000300146 4/19 rs369075650 1 deleterious(0) probably_damaging(0.984) NA G:0 G:0.0003 GAT A 4.143e-05 11:59658918 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 missense_variant 5.578969 0.98445 0.98042 0.719381 0.9984519 0 0.9919736 TRUE 0.000226564 ENSE00001365809_008 ENSE00001365809 008 11 59426300 59426469 - 39 81 50 G T 59426419 1310 51 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGACCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 59658945 59658946 59658946 exon 1 0.01234568 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGACCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant 15 12 1 1 1 5147 2056 0.8647948 0.994188 0.9294914 0.9699498 0.9964068 0.9586752 0.95137 0.03005018 0.003593194 -0.09388043 0.04281802 0.9831783 0.9550226 0.01682168 -0.0255312 0.04235289 FALSE FALSE 1 2.292 . missense_variant&splice_region_variant MODERATE PATL1 HGNC 26721 ENST00000300146 4/19 rs371253037 1 deleterious(0.03) probably_damaging(0.951) NA T:0.0014 T:0 GGC G 8.384e-05 11:59658946 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 missense_variant 3.634872 0.97434 0.92883 0.719381 0.9841551 0 0.9919736 TRUE 2.74412e-05 ENSE00001365809_009 ENSE00001365809 009 11 59426300 59426469 - 39 81 50 A C 59426430 1311 40 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCGTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 59658956 59658957 59658957 upstr_intron -11 -0.2 CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCGTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC mutant NA NA NA NA NA 2907 758 0.9988846 0.9999498 0.9994172 0.9699498 0.9964068 0.9586752 0.95137 NA NA 0.04020936 0.04857976 0.9831783 0.9550226 NA 0.04439456 NA FALSE NA 0.014 0.747 rs149271499 intron_variant MODIFIER PATL1 HGNC 26721 ENST00000300146 3/18 rs149271499 1 C:0.0038 C:0.0136 C:0.0014 NA C:0 C:0 C:0 C:0.0173 C:0 AAG A 0.001344 11:59658957 PATL1 HGNC Symbol protein_coding 32264 ENSG00000166889 ENSE00001365809 intron_variant -0.174875 0.26644 0.40939 0.091178 0.6821982 0.114773 0.9919736 TRUE 0.00090874 ENSE00001365809_BRK ENSE00001365809 BRK 11 59426300 59426469 - 39 81 50 A,G; T,T NA NA NA CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTTTCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGCCATTAAATATTTTCTCTTTACATAAAATTTATAATATC 59658826 59658996 NA NA NA NA NA NA CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTTTCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGCCATTAAATATTTTCTCTTTACATAAAATTTATAATATC CCAGAGAGTATACAACATTTCAGACTCTGTATGTTTTCCTTTTTTGTTAGCCCCAACCAGGAAGTCTGAATTCCAGTATCTGGGATGGATCTGAAGTTCTGAGGCGAATCCGAGGACCACTGCTTGCTCAGGTATTAAATATTTTCTCTTTACATAAAATTTATAATATC control 350 212 0 0.003070378 0.001535189 1181 1292 0.008525886 0.006005652 0.007265769 0.9699498 0.9964068 0.9586752 0.95137 -0.9699498 -0.9933364 -0.9501493 -0.9453644 0.9831783 0.9550226 -0.9816431 -0.9477568 0.03388629 TRUE TRUE NA NA NA NA NA PATL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PATL1 NA NA NA ENSG00000166889 ENSE00001365809 NA NA NA NA NA NA NA 0.9919736 TRUE NA ENSE00001366988_000 ENSE00001366988 000 12 645333 645502 + 51 78 41 NA NA NA NA NA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 NA NA NA NA NA NA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA natural 50 25 0.9951914 1 0.9975957 1287 2955 0.9957459 0.9415434 0.9686447 0.9951914 1 0.9957459 0.9415434 0 0 0 0 0.9975957 0.9686447 0 0 0 FALSE FALSE NA NA NA NA NA B4GALNT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B4GALNT3 NA NA NA ENSG00000139044 ENSE00003641246 NA NA NA NA NA NA NA 1.061799e-07 FALSE NA ENSE00001366988_001 ENSE00001366988 001 12 645333 645502 + 51 78 41 A C 645349 1 17 AGCTTCTCATCCTAATCTTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536182 536183 536183 upstr_intron -35 -0.6666667 AGCTTCTCATCCTAATCTTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 226 95 1 1 1 0.9951914 1 0.9957459 0.9415434 NA NA 0.00425409 0.05845657 0.9975957 0.9686447 NA 0.03135533 NA FALSE NA 0 -1.097 . intron_variant MODIFIER B4GALNT3 HGNC 24137 ENST00000266383 2/19 1 NA TAT A,C 3.295e-05 12:536183 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 intron_variant -0.328572 0.08527 0.00939 0.06567 0.5356096 0.166294 1.061799e-07 FALSE 8.13127e-06 ENSE00001366988_003 ENSE00001366988 003 12 645333 645502 + 51 78 41 C T 645360 3 28 AGCTTCTCATCCTAATATTCCTACCAATTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536193 536194 536194 upstr_intron -24 -0.4509804 AGCTTCTCATCCTAATATTCCTACCAATTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 22 442 1 0.9992213 0.9996107 0.9951914 1 0.9957459 0.9415434 NA NA 0.00425409 0.05767788 0.9975957 0.9686447 NA 0.03096598 NA FALSE NA 0 -0.115 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:536194 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 intron_variant 0.236439 0.185 0.02131 0.06567 0.7488246 0.166294 1.061799e-07 FALSE 0.000296613 ENSE00001366988_004 ENSE00001366988 004 12 645333 645502 + 51 78 41 C A 645360 4 28 AGCTTCTCATCCTAATATTCCTACCAAATTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536193 536194 536194 upstr_intron -24 -0.4509804 AGCTTCTCATCCTAATATTCCTACCAAATTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 507 477 0.9990219 1 0.9995109 0.9951914 1 0.9957459 0.9415434 NA NA 0.003275952 0.05845657 0.9975957 0.9686447 NA 0.03086626 NA FALSE NA 0 -0.115 NA NA NA B4GALNT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA B4GALNT3 NA NA NA ENSG00000139044 ENSE00003641246 intron_variant 0.331484 0.18274 0.01973 0.06567 0.7300675 0.166294 1.061799e-07 FALSE 4.06319e-06 ENSE00001366988_006 ENSE00001366988 006 12 645333 645502 + 51 78 41 G A 645364 6 32 AGCTTCTCATCCTAATATTCCTACCAACTTCATTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536197 536198 536198 upstr_intron -20 -0.372549 AGCTTCTCATCCTAATATTCCTACCAACTTCATTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 38 279 1 1 1 0.9951914 1 0.9957459 0.9415434 NA NA 0.00425409 0.05845657 0.9975957 0.9686447 NA 0.03135533 NA FALSE NA 0 -1.337 rs117759097 intron_variant MODIFIER B4GALNT3 HGNC 24137 ENST00000266383 2/19 rs117759097 1 A:0.0048 A:0 A:0 NA A:0.0228 A:0 A:0.001 A:0 A:0.0001 CGT G,A 0.001977 12:536198 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 intron_variant -0.477104 0.05403 0.00052 0.06567 0.6160589 0.166294 1.061799e-07 FALSE 0.00202753 ENSE00001366988_007 ENSE00001366988 007 12 645333 645502 + 51 78 41 C A 645374 7 42 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTATTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536207 536208 536208 upstr_intron -10 -0.1764706 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTATTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 648 486 0.9987871 0.9996744 0.9992307 0.9951914 1 0.9957459 0.9415434 NA NA 0.003041143 0.05813102 0.9975957 0.9686447 NA 0.03058608 NA FALSE NA 0.028 0.069 . intron_variant MODIFIER B4GALNT3 HGNC 24137 ENST00000266383 2/19 1 NA TCT C,A 8.236e-06 12:536208 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 intron_variant -0.104612 0.19069 0.12353 0.06567 0.4457723 0.236867 1.061799e-07 FALSE 4.0621e-06 ENSE00001366988_009 ENSE00001366988 009 12 645333 645502 + 51 78 41 C T 645389 9 57 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCATGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536222 536223 536223 exon 6 0.07692308 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCATGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 471 599 0.9973489 1 0.9986744 0.9951914 1 0.9957459 0.9415434 NA NA 0.001602986 0.05845657 0.9975957 0.9686447 NA 0.03002978 NA FALSE NA 0.999 0.737 rs142668591 synonymous_variant LOW B4GALNT3 HGNC 24137 ENST00000266383 3/20 rs142668591 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0016 T:0 ACG T,T 0.0002141 12:536223 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 synonymous_variant 0.88873 0.94512 0.3655 0.706298 0.4450064 0 1.061799e-07 FALSE 0.000158386 ENSE00001366988_010 ENSE00001366988 010 12 645333 645502 + 51 78 41 G A 645390 10 58 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACAACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536223 536224 536224 exon 7 0.08974359 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACAACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 317 73 0.9824894 1 0.9912447 0.9951914 1 0.9957459 0.9415434 NA NA -0.01325651 0.05845657 0.9975957 0.9686447 NA 0.02260003 NA FALSE NA 1 3.471 . missense_variant MODERATE B4GALNT3 HGNC 24137 ENST00000266383 3/20 1 tolerated(0.06) benign(0.001) NA CGA G,A 3.295e-05 12:536224 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 missense_variant 3.68818 0.98084 0.93616 0.706298 0.9936028 0 1.061799e-07 FALSE 2.84269e-05 ENSE00001366988_012 ENSE00001366988 012 12 645333 645502 + 51 78 41 G T 645405 12 73 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGTTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536238 536239 536239 exon 22 0.2820513 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGTTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 940 142 1 0.9861605 0.9930802 0.9951914 1 0.9957459 0.9415434 NA NA 0.00425409 0.04461705 0.9975957 0.9686447 NA 0.02443557 NA FALSE NA 0.009 0.806 . missense_variant MODERATE B4GALNT3 HGNC 24137 ENST00000266383 3/20 1 tolerated(0.36) benign(0.009) NA GGT G,T 8.236e-06 12:536239 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 missense_variant -0.333842 0.21827 0.1788 0.706298 0.533624 0 1.061799e-07 FALSE 8.12163e-06 ENSE00001366988_013 ENSE00001366988 013 12 645333 645502 + 51 78 41 G A 645409 13 77 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAACAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536242 536243 536243 exon 26 0.3333333 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAACAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 1254 48 0.9980141 1 0.9990071 0.9951914 1 0.9957459 0.9415434 NA NA 0.002268223 0.05845657 0.9975957 0.9686447 NA 0.0303624 NA FALSE NA 0.005 0.968 . missense_variant MODERATE B4GALNT3 HGNC 24137 ENST00000266383 3/20 1 tolerated(0.26) benign(0.007) NA AGC G,A 8.236e-06 12:536243 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 missense_variant -0.301557 0.19284 0.10994 0.706298 0.8771027 0 1.061799e-07 FALSE 4.06078e-06 ENSE00001366988_015 ENSE00001366988 015 12 645333 645502 + 51 78 41 A G 645424 15 92 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTGCTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536257 536258 536258 exon -38 0.525641 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTGCTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 300 339 1 1 1 0.9951914 1 0.9957459 0.9415434 NA NA 0.00425409 0.05845657 0.9975957 0.9686447 NA 0.03135533 NA FALSE NA 1 3.253 . missense_variant MODERATE B4GALNT3 HGNC 24137 ENST00000266383 3/20 1 deleterious(0.01) possibly_damaging(0.789) NA TAC A,G 8.236e-06 12:536258 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 missense_variant 4.123101 0.97261 0.93399 0.706298 0.997189 0 1.061799e-07 FALSE 4.06068e-06 ENSE00001366988_016 ENSE00001366988 016 12 645333 645502 + 51 78 41 T C 645426 16 94 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACCTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536259 536260 536260 exon -36 0.5512821 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACCTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant 10 10 1 0.9994404 0.9997202 708 70 0.9991834 0.9698047 0.984494 0.9951914 1 0.9957459 0.9415434 0.004808578 -0.0005596302 0.003437468 0.02826123 0.9975957 0.9686447 0.002124474 0.01584935 0.01372487 FALSE FALSE 0.733 -0.37 . synonymous_variant LOW B4GALNT3 HGNC 24137 ENST00000266383 3/20 1 NA CTT T,C 8.236e-06 12:536260 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 synonymous_variant 0.244529 0.9206 0.07513 0.706298 0.7706379 0 1.061799e-07 FALSE 4.06075e-06 ENSE00001366988_017 ENSE00001366988 017 12 645333 645502 + 51 78 41 A G 645430 17 98 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAGGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536263 536264 536264 exon -32 0.6025641 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAGGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 228 100 0.9617468 1 0.9808734 0.9951914 1 0.9957459 0.9415434 NA NA -0.0339991 0.05845657 0.9975957 0.9686447 NA 0.01222874 NA FALSE NA 0.928 0.415 . missense_variant MODERATE B4GALNT3 HGNC 24137 ENST00000266383 3/20 1 tolerated(0.28) benign(0.004) NA AAG A,G 8.236e-06 12:536264 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 missense_variant 1.340854 0.95759 0.21837 0.706298 0.9861416 0 1.061799e-07 FALSE 4.06072e-06 ENSE00001366988_019 ENSE00001366988 019 12 645333 645502 + 51 78 41 A G 645436 19 104 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAGCAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536269 536270 536270 exon -26 0.6794872 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAGCAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 54 432 0.9734248 0.9974036 0.9854142 0.9951914 1 0.9957459 0.9415434 NA NA -0.0223211 0.05586021 0.9975957 0.9686447 NA 0.01676956 NA FALSE NA 1 4.912 . missense_variant MODERATE B4GALNT3 HGNC 24137 ENST00000266383 3/20 COSM1299762 1 tolerated(0.14) benign(0.118) NA AAC A,G 8.236e-06 12:536270 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 missense_variant 1.290565 0.98318 0.9796 0.706298 0.989331 0 1.061799e-07 FALSE 4.06075e-06 ENSE00001366988_022 ENSE00001366988 022 12 645333 645502 + 51 78 41 C T 645448 22 116 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCTCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536281 536282 536282 exon -14 0.8333333 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCTCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 402 558 0.9986615 0.9999318 0.9992966 0.9951914 1 0.9957459 0.9415434 NA NA 0.002915605 0.05838834 0.9975957 0.9686447 NA 0.03065197 NA FALSE NA 0.97 1.859 . missense_variant MODERATE B4GALNT3 HGNC 24137 ENST00000266383 3/20 1 deleterious(0.03) possibly_damaging(0.907) NA CCC C,T 8.236e-06 12:536282 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 missense_variant 6.207136 0.98501 0.9016 0.706298 0.998385 0 1.061799e-07 FALSE 1.21827e-05 ENSE00001366988_023 ENSE00001366988 023 12 645333 645502 + 51 78 41 C T 645453 23 121 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGTTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536286 536287 536287 exon -9 0.8974359 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGTTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 788 13 1 1 1 0.9951914 1 0.9957459 0.9415434 NA NA 0.00425409 0.05845657 0.9975957 0.9686447 NA 0.03135533 NA FALSE NA 1 2.002 . missense_variant MODERATE B4GALNT3 HGNC 24137 ENST00000266383 3/20 rs377035350 1 tolerated(0.7) possibly_damaging(0.467) NA T:0 T:0.0001 GCT C,T 8.236e-06 12:536287 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 missense_variant 2.876619 0.9753 0.87182 0.706298 0.9860893 0 1.061799e-07 FALSE 1.62441e-05 ENSE00001366988_024 ENSE00001366988 024 12 645333 645502 + 51 78 41 C T 645455 24 123 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTTTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536288 536289 536289 exon -7 0.9230769 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTTTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 107 186 1 1 1 0.9951914 1 0.9957459 0.9415434 NA NA 0.00425409 0.05845657 0.9975957 0.9686447 NA 0.03135533 NA FALSE NA 0.987 -0.081 . synonymous_variant LOW B4GALNT3 HGNC 24137 ENST00000266383 3/20 1 NA TCT C,T 8.236e-06 12:536289 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 synonymous_variant 0.786793 0.9515 0.60876 0.706298 0.5337416 0 1.061799e-07 FALSE 1.21828e-05 ENSE00001366988_028 ENSE00001366988 028 12 645333 645502 + 51 78 41 T C 645478 28 146 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATCGTACCTGCCCTTTGAGAGAGCTAA 536166 536336 536311 536312 536312 downstr_intron 17 1.425 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATCGTACCTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 215 614 0.9236705 0.9946145 0.9591425 0.9951914 1 0.9957459 0.9415434 NA NA -0.07207538 0.05307103 0.9975957 0.9686447 NA -0.009502176 NA FALSE NA 0 -0.168 NA NA NA B4GALNT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:536312 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 intron_variant -0.029548 0.13859 0.00774 0.078448 0.5287147 0.0455939 1.061799e-07 FALSE 4.06461e-06 ENSE00001366988_029 ENSE00001366988 029 12 645333 645502 + 51 78 41 C T 645483 29 151 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACTTGCCCTTTGAGAGAGCTAA 536166 536336 536316 536317 536317 downstr_intron 22 1.55 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACTTGCCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 45 991 1 0.9998404 0.9999202 0.9951914 1 0.9957459 0.9415434 NA NA 0.00425409 0.05829695 0.9975957 0.9686447 NA 0.03127552 NA FALSE NA 0.004 0.345 . intron_variant MODIFIER B4GALNT3 HGNC 24137 ENST00000266383 3/19 1 NA CCT C,T 8.236e-06 12:536317 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 intron_variant 0.097347 0.12705 0.01103 0.078448 0.5762321 0.0455939 1.061799e-07 FALSE 4.06928e-06 ENSE00001366988_030 ENSE00001366988 030 12 645333 645502 + 51 78 41 C T 645486 30 154 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGTCCTTTGAGAGAGCTAA 536166 536336 536319 536320 536320 downstr_intron 25 1.625 AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGTCCTTTGAGAGAGCTAA AGCTTCTCATCCTAATATTCCTACCAACTTCGTTCTTCATTCTTCCCCTAGGACCACGACATTGACCAAGGGGTGAGCAGTAACAGCAGCTACTTGAAGTGGAACAAGCCTGTCCCCTGGCTCTCAGAGGTGAGGGACTTTCTATTGTACCTGCCCTTTGAGAGAGCTAA mutant NA NA NA NA NA 895 111 0.9996316 1 0.9998158 0.9951914 1 0.9957459 0.9415434 NA NA 0.003885657 0.05845657 0.9975957 0.9686447 NA 0.03117112 NA FALSE NA 0 -2.038 . intron_variant MODIFIER B4GALNT3 HGNC 24137 ENST00000266383 3/19 1 NA GCC C,T 8.236e-06 12:536320 B4GALNT3 HGNC Symbol protein_coding 103145 ENSG00000139044 ENSE00003641246 intron_variant 0.021185 0.06001 0.00248 0.078448 0.4765324 0.0455939 1.061799e-07 FALSE 4.08073e-06 ENSE00001367006_000 ENSE00001367006 000 1 109715060 109715229 + 50 81 39 NA NA NA NA NA TTTCTGGGATCTCTGGGAGAAGGCTGGTGTGATACTCACACTGTGGAATTCCCATCCTTTCTCTGTGGTCTTCATCCACCTGGAGTCATCTGCATTGGGCTGGCACTGGTCATTCTGAACCTGACATAAAAAGAGTTTGGGACCAGAGTCTCAGCTTTCTAAGGAAATGG 109172437 109172607 NA NA NA NA NA NA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA natural 22 47 0.9945446 0.9974353 0.9959899 3188 1530 0.9741638 0.9219345 0.9480491 0.9945446 0.9974353 0.9741638 0.9219345 0 0 0 0 0.9959899 0.9480491 0 0 0 FALSE FALSE NA NA NA NA NA KIAA1324 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIAA1324 NA NA NA ENSG00000116299 ENSE00003484362 NA NA NA NA NA NA NA 2.148645e-08 FALSE NA ENSE00001367006_001 ENSE00001367006 001 1 109715060 109715229 + 50 81 39 G A 109715075 3017 16 TTTCTGGGATCTCTGGGAGAAGGCTGGTGTGATACTCACACTGTGGAATTCCCATCCTTTCTCTGTGGTCTTCATCCACCTGGAGTCATCTGCATTGGGCTGGCACTGGTCATTCTGAACCTGACATAAAAAGAGTTTGGGACCAGAGTCTCAGTTTTCTAAGGAAATGG 109172437 109172607 109172452 109172453 109172453 upstr_intron -35 -0.68 CCATTTCCTTAGAAAACTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA mutant NA NA NA NA NA 20 155 1 1 1 0.9945446 0.9974353 0.9741638 0.9219345 NA NA 0.0258362 0.07806552 0.9959899 0.9480491 NA 0.05195086 NA FALSE NA 0 0.219 . intron_variant MODIFIER KIAA1324 HGNC 29618 ENST00000529753 4/19 1 NA AGC G,A 8.237e-06 1:109172453 KIAA1324 HGNC Symbol protein_coding 93102 ENSG00000116299 ENSE00003484362 intron_variant 0.719333 0.17831 0.01225 0.053691 0.6574976 0.0673029 2.148645e-08 FALSE NA ENSE00001367006_005 ENSE00001367006 005 1 109715060 109715229 + 50 81 39 T C 109715146 3021 87 TTTCTGGGATCTCTGGGAGAAGGCTGGTGTGATACTCACACTGTGGAATTCCCATCCTTTCTCTGTGGTCTTCATCCACCTGGGGTCATCTGCATTGGGCTGGCACTGGTCATTCTGAACCTGACATAAAAAGAGTTTGGGACCAGAGTCTCAGCTTTCTAAGGAAATGG 109172437 109172607 109172523 109172524 109172524 exon 37 0.4567901 CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACCCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA mutant NA NA NA NA NA 57 13 0.9510618 0.95 0.9505309 0.9945446 0.9974353 0.9741638 0.9219345 NA NA -0.02310204 0.02806552 0.9959899 0.9480491 NA 0.002481745 NA FALSE NA 1 1.574 . missense_variant MODERATE KIAA1324 HGNC 29618 ENST00000529753 5/20 1 deleterious(0.04) benign(0.147) NA CTC T,C 8.236e-06 1:109172524 KIAA1324 HGNC Symbol protein_coding 93102 ENSG00000116299 ENSE00003484362 missense_variant 4.360698 0.98566 0.96357 0.554377 0.9983565 0 2.148645e-08 FALSE 4.06114e-06 ENSE00001367006_009 ENSE00001367006 009 1 109715060 109715229 + 50 81 39 A G 109715171 3025 112 TTTCTGGGATCTCTGGGAGAAGGCTGGTGTGATACTCACACTGTGGAATTCCCATCCTCTCTCTGTGGTCTTCATCCACCTGGAGTCATCTGCATTGGGCTGGCACTGGTCATTCTGAACCTGACATAAAAAGAGTTTGGGACCAGAGTCTCAGCTTTCTAAGGAAATGG 109172437 109172607 109172548 109172549 109172549 exon -20 0.7654321 CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAGAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA mutant NA NA NA NA NA 96 365 1 0.978548 0.989274 0.9945446 0.9974353 0.9741638 0.9219345 NA NA 0.0258362 0.05661355 0.9959899 0.9480491 NA 0.04122488 NA FALSE NA 1 3.076 . missense_variant MODERATE KIAA1324 HGNC 29618 ENST00000529753 5/20 1 tolerated_low_confidence(0.19) benign(0.002) NA AAA A,G 8.236e-06 1:109172549 KIAA1324 HGNC Symbol protein_coding 93102 ENSG00000116299 ENSE00003484362 missense_variant 1.998853 0.97197 0.7803 0.516011 0.9957958 0 2.148645e-08 FALSE 8.12374e-06 ENSE00001367006_010 ENSE00001367006 010 1 109715060 109715229 + 50 81 39 A G 109715180 3026 121 TTTCTGGGATCTCTGGGAGAAGGCTGGTGTGATACTCACACTGTGGAATCCCCATCCTTTCTCTGTGGTCTTCATCCACCTGGAGTCATCTGCATTGGGCTGGCACTGGTCATTCTGAACCTGACATAAAAAGAGTTTGGGACCAGAGTCTCAGCTTTCTAAGGAAATGG 109172437 109172607 109172557 109172558 109172558 exon -11 0.8765432 CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGGATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA mutant NA NA NA NA NA 237 129 0.9883293 0.9984737 0.9934015 0.9945446 0.9974353 0.9741638 0.9219345 NA NA 0.01416546 0.07653923 0.9959899 0.9480491 NA 0.04535235 NA FALSE NA 1 3.908 . missense_variant MODERATE KIAA1324 HGNC 29618 ENST00000529753 5/20 1 tolerated_low_confidence(0.17) benign(0.333) NA GAA A,G 8.236e-06 1:109172558 KIAA1324 HGNC Symbol protein_coding 93102 ENSG00000116299 ENSE00003484362 missense_variant 3.162375 0.98141 0.93354 0.516011 0.9918544 0 2.148645e-08 FALSE 4.06194e-06 ENSE00001367006_011 ENSE00001367006 011 1 109715060 109715229 + 50 81 39 C T 109715185 3027 126 TTTCTGGGATCTCTGGGAGAAGGCTGGTGTGATACTCACACTGTAGAATTCCCATCCTTTCTCTGTGGTCTTCATCCACCTGGAGTCATCTGCATTGGGCTGGCACTGGTCATTCTGAACCTGACATAAAAAGAGTTTGGGACCAGAGTCTCAGCTTTCTAAGGAAATGG 109172437 109172607 109172562 109172563 109172563 exon -6 0.9382716 CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCTACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA mutant NA NA NA NA NA 53 212 1 0.9808782 0.9904391 0.9945446 0.9974353 0.9741638 0.9219345 NA NA 0.0258362 0.05894375 0.9959899 0.9480491 NA 0.04238998 NA FALSE NA 1 4.435 . missense_variant MODERATE KIAA1324 HGNC 29618 ENST00000529753 5/20 1 tolerated_low_confidence(0.09) benign(0.347) NA CCA C,T 6.589e-05 1:109172563 KIAA1324 HGNC Symbol protein_coding 93102 ENSG00000116299 ENSE00003484362 missense_variant 2.587787 0.99426 0.97051 0.516011 0.99471 0 2.148645e-08 FALSE 0.000130025 ENSE00001367006_012 ENSE00001367006 012 1 109715060 109715229 + 50 81 39 C T 109715201 3028 142 TTTCTGGGATCTCTGGGAGAAGGCTGGTATGATACTCACACTGTGGAATTCCCATCCTTTCTCTGTGGTCTTCATCCACCTGGAGTCATCTGCATTGGGCTGGCACTGGTCATTCTGAACCTGACATAAAAAGAGTTTGGGACCAGAGTCTCAGCTTTCTAAGGAAATGG 109172437 109172607 109172578 109172579 109172579 downstr_intron 11 1.289474 CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCATACCAGCCTTCTCCCAGAGATCCCAGAAA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA mutant NA NA NA NA NA 143 432 1 0.9699281 0.984964 0.9945446 0.9974353 0.9741638 0.9219345 NA NA 0.0258362 0.04799361 0.9959899 0.9480491 NA 0.03691491 NA FALSE NA 0 -1.792 . intron_variant MODIFIER KIAA1324 HGNC 29618 ENST00000529753 5/19 1 NA ACA C,T 8.236e-06 1:109172579 KIAA1324 HGNC Symbol protein_coding 93102 ENSG00000116299 ENSE00003484362 intron_variant 1.893539 0.09608 0.00523 0.06567 0.6477248 0.247414 2.148645e-08 FALSE 4.07953e-06 ENSE00001367006_015 ENSE00001367006 015 1 109715060 109715229 + 50 81 39 C A 109715213 3031 154 TTTCTGGGATCTCTGGTAGAAGGCTGGTGTGATACTCACACTGTGGAATTCCCATCCTTTCTCTGTGGTCTTCATCCACCTGGAGTCATCTGCATTGGGCTGGCACTGGTCATTCTGAACCTGACATAAAAAGAGTTTGGGACCAGAGTCTCAGCTTTCTAAGGAAATGG 109172437 109172607 109172590 109172591 109172591 downstr_intron 23 1.605263 CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTACCAGAGATCCCAGAAA CCATTTCCTTAGAAAGCTGAGACTCTGGTCCCAAACTCTTTTTATGTCAGGTTCAGAATGACCAGTGCCAGCCCAATGCAGATGACTCCAGGTGGATGAAGACCACAGAGAAAGGATGGGAATTCCACAGTGTGAGTATCACACCAGCCTTCTCCCAGAGATCCCAGAAA mutant NA NA NA NA NA 1449 67 0.9994591 1 0.9997296 0.9945446 0.9974353 0.9741638 0.9219345 NA NA 0.02529533 0.07806552 0.9959899 0.9480491 NA 0.05168043 NA FALSE NA 0 -2.428 rs145671036 intron_variant MODIFIER KIAA1324 HGNC 29618 ENST00000529753 5/19 rs145671036 1 A:0.0014 A:0 A:0 NA A:0.0069 A:0 A:0 TCC C,A 0.0003707 1:109172591 KIAA1324 HGNC Symbol protein_coding 93102 ENSG00000116299 ENSE00003484362 intron_variant 1.498179 0.24006 0.03028 0.06567 0.7683975 0.213699 2.148645e-08 FALSE 0.000462848 ENSE00001367061_000 ENSE00001367061 000 4 109773335 109773504 - 57 45 68 NA NA NA NA NA CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTAAAAACTGTGCTTTTTCTTGATTTAGGGTCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT 108852178 108852348 NA NA NA NA NA NA CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTAAAAACTGTGCTTTTTCTTGATTTAGGGTCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTAAAAACTGTGCTTTTTCTTGATTTAGGGTCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT natural NA NA NA NA NA 564 892 0.9954622 0.9769341 0.9861981 NA NA 0.9954622 0.9769341 NA NA 0 0 NA 0.9861981 NA 0 NA FALSE NA NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001367061 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001367061_012 ENSE00001367061 012 4 109773335 109773504 - 57 45 68 A G 109773434 1155 71 CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTAAAAACTGTGCTTTTTCTTGATTTAGGGCCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT 108852178 108852348 108852277 108852278 108852278 exon 3 0.06666667 CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTAAAAACTGTGCTTTTTCTTGATTTAGGGCCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTAAAAACTGTGCTTTTTCTTGATTTAGGGTCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT mutant NA NA NA NA NA 189 56 1 0.9993175 0.9996588 NA NA 0.9954622 0.9769341 NA NA 0.00453781 0.02238343 NA 0.9861981 NA 0.01346062 NA FALSE NA 0.039 0.05 . splice_region_variant&synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 23/33 COSM290243 1 NA GAC A,G 8.28e-06 4:108852278 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001367061 splice_region_variant 0.979031 0.27038 0.4392 0.615465 0.5269821 0 7.11572e-08 FALSE NA ENSE00001367061_016 ENSE00001367061 016 4 109773335 109773504 - 57 45 68 T G 109773462 1159 43 CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTCAAAACTGTGCTTTTTCTTGATTTAGGGTCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT 108852178 108852348 108852305 108852306 108852306 upstr_intron -26 -0.3676471 CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTCAAAACTGTGCTTTTTCTTGATTTAGGGTCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT CTATTTAAGGTATGAATTTTAATACATATAATTACTACTTTTAAAAACTGTGCTTTTTCTTGATTTAGGGTCCCCCTGGACCTCCTGGACCTCAAGGACTACAAGGGCCAAAGGTTATTCTTTATTTACTTGTTTCCATTTATCACATACAGTGCAGGGAATACCGTATT mutant NA NA NA NA NA 271 24 0.9939228 0.95 0.9719614 NA NA 0.9954622 0.9769341 NA NA -0.001539356 -0.02693408 NA 0.9861981 NA -0.01423672 NA FALSE NA 0 -0.203 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 22/32 1 NA TTA T,G 8.284e-06 4:108852306 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001367061 intron_variant -0.038501 0.14499 0.01135 0.053691 0.5845825 0.0832456 7.11572e-08 FALSE 4.4392e-06 ENSE00001367617_000 ENSE00001367617 000 15 65234623 65234792 + 41 99 30 NA NA NA NA NA GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 NA NA NA NA NA NA GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC natural 394 543 0.8586591 0.8813411 0.8700001 2885 4449 0.9680045 0.9203722 0.9441884 0.8586591 0.8813411 0.9680045 0.9203722 0 0 0 0 0.8700001 0.9441884 0 0 0 FALSE FALSE NA NA NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00003510296 NA NA NA NA NA NA NA 1.161072e-15 FALSE NA ENSE00001367617_001 ENSE00001367617 001 15 65234623 65234792 + 41 99 30 G A 65234633 1504 11 GGGAGGGACTAGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942435 64942436 64942436 upstr_intron -31 -0.7317073 GGGAGGGACTAGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 306 356 0.9673305 0.961804 0.9645673 0.8586591 0.8813411 0.9680045 0.9203722 NA NA -0.0006740164 0.04143182 0.8700001 0.9441884 NA 0.0203789 NA FALSE NA 0 -0.557 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 9/14 rs200074748 1 A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 A:0.0002 A:0.0007 TGG G,A 0.0004615 15:64942436 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 intron_variant 0.020672 0.17228 0.01582 0.078448 0.4470498 0.0541953 1.161072e-15 FALSE 0.00051561 ENSE00001367617_002 ENSE00001367617 002 15 65234623 65234792 + 41 99 30 G A 65234634 1505 12 GGGAGGGACTGATCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942436 64942437 64942437 upstr_intron -30 -0.7073171 GGGAGGGACTGATCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 352 255 0.9904577 0.9853316 0.9878947 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.02245318 0.06495943 0.8700001 0.9441884 NA 0.04370631 NA FALSE NA 0 -0.922 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 9/14 rs376684217 1 NA GGT G,A 1.648e-05 15:64942437 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 intron_variant -0.402602 0.05745 0.00045 0.078448 0.4679728 0.0541953 1.161072e-15 FALSE 2.82159e-05 ENSE00001367617_003 ENSE00001367617 003 15 65234623 65234792 + 41 99 30 C T 65234636 1506 14 GGGAGGGACTGGTTGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942438 64942439 64942439 upstr_intron -28 -0.6585366 GGGAGGGACTGGTTGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 104 205 0.9934916 0.9903527 0.9919221 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.02548703 0.06998054 0.8700001 0.9441884 NA 0.04773379 NA FALSE NA 0 -0.917 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 9/14 1 NA TCG C,T 6.592e-05 15:64942439 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 intron_variant 0.155372 0.175 0.0322 0.078448 0.4418178 0.0541953 1.161072e-15 FALSE 8.84552e-05 ENSE00001367617_004 ENSE00001367617 004 15 65234623 65234792 + 41 99 30 G A 65234646 1507 24 GGGAGGGACTGGTCGATTGATCCATGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942448 64942449 64942449 upstr_intron -18 -0.4146341 GGGAGGGACTGGTCGATTGATCCATGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 90 137 0.85 0.85 0.85 528 119 0.97463 0.9869138 0.9807719 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 0.006625435 0.06654165 0.8700001 0.9441884 -0.02000012 0.03658354 0.05658366 FALSE FALSE 0 -2.03 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 9/14 1 NA CGT G,A 8.238e-06 15:64942449 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 intron_variant -0.21078 0.16702 0.01099 0.078448 0.6628486 0.0988825 1.161072e-15 FALSE NA ENSE00001367617_005 ENSE00001367617 005 15 65234623 65234792 + 41 99 30 G A 65234648 1508 26 GGGAGGGACTGGTCGATTGATCCGTATATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942450 64942451 64942451 upstr_intron -16 -0.3658537 GGGAGGGACTGGTCGATTGATCCGTATATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 38 75 0.85 0.85 0.85 NA NA NA NA NA 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 NA NA 0.8700001 0.9441884 -0.02000012 NA NA NA FALSE 0 -0.156 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 9/14 1 NA TGT G,A 8.238e-06 15:64942451 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 intron_variant 0.322153 0.20247 0.03443 0.078448 0.6274435 0.0988825 1.161072e-15 FALSE 8.61319e-06 ENSE00001367617_008 ENSE00001367617 008 15 65234623 65234792 + 41 99 30 C A 65234654 1511 32 GGGAGGGACTGGTCGATTGATCCGTGTATCTACTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942456 64942457 64942457 upstr_intron -10 -0.2195122 GGGAGGGACTGGTCGATTGATCCGTGTATCTACTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 68 11 0.8023671 0.8224528 0.8124099 0.8586591 0.8813411 0.9680045 0.9203722 NA NA -0.1656375 -0.09791939 0.8700001 0.9441884 NA -0.1317784 NA FALSE NA 0.001 0.051 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 9/14 1 NA TCC C,A 8.237e-06 15:64942457 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 intron_variant 0.940376 0.23796 0.25027 0.078448 0.7334445 0.0988825 1.161072e-15 FALSE NA ENSE00001367617_009 ENSE00001367617 009 15 65234623 65234792 + 41 99 30 G T 65234668 1512 46 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGTTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942470 64942471 64942471 exon 5 0.05050505 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGTTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 230 654 0.9807984 0.9966126 0.9887055 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.01279391 0.07624044 0.8700001 0.9441884 NA 0.04451718 NA FALSE NA 1 4.249 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 1 probably_damaging(0.913) NA GGT G,T 1.647e-05 15:64942471 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 4.651904 0.94315 0.94756 0.615465 0.9937726 0 1.161072e-15 FALSE 1.2441e-05 ENSE00001367617_010 ENSE00001367617 010 15 65234623 65234792 + 41 99 30 C A 65234676 1513 54 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTACTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942478 64942479 64942479 exon 13 0.1313131 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTACTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 26 86 0.85 0.85 0.85 NA NA NA NA NA 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 NA NA 0.8700001 0.9441884 -0.02000012 NA NA NA FALSE 1 3.207 NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64942479 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 5.961185 0.97872 0.9454 0.615465 0.9959349 0 1.161072e-15 FALSE 2.87378e-05 ENSE00001367617_012 ENSE00001367617 012 15 65234623 65234792 + 41 99 30 C T 65234687 1515 65 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTTGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942489 64942490 64942490 exon 24 0.2424242 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTTGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 254 21 0 0 0 52 466 0 0.01049352 0.00524676 0.8586591 0.8813411 0.9680045 0.9203722 -0.8586591 -0.8813411 -0.9680045 -0.9098787 0.8700001 0.9441884 -0.8700001 -0.9389416 0.06894148 TRUE TRUE 0.01 -1.534 rs148018885 synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 10/15 rs148018885 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 3.295e-05 15:64942490 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 synonymous_variant 2.472561 0.96181 0.1125 0.615465 0.7583195 0 1.161072e-15 FALSE 1.63303e-05 ENSE00001367617_013 ENSE00001367617 013 15 65234623 65234792 + 41 99 30 G A 65234688 1516 66 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCACTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942490 64942491 64942491 exon 25 0.2525253 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCACTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 104 184 1 0.9972014 0.9986007 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.03199547 0.07682926 0.8700001 0.9441884 NA 0.05441236 NA FALSE NA 1 5.5 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 rs549441477 1 possibly_damaging(0.778) NA CGC G,A 8.236e-06 15:64942491 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 6.779578 0.98031 0.95652 0.615465 0.999244 0 1.161072e-15 FALSE 8.1654e-06 ENSE00001367617_014 ENSE00001367617 014 15 65234623 65234792 + 41 99 30 G A 65234696 1517 74 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGACACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942498 64942499 64942499 exon 33 0.3333333 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGACACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 45 243 0.9990819 0.9966275 0.9978547 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.03107734 0.07625533 0.8700001 0.9441884 NA 0.05366634 NA FALSE NA 0.999 1.202 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 10/15 1 NA GGC G,A 1.647e-05 15:64942499 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 synonymous_variant 1.423425 0.95624 0.86478 0.615465 0.6601264 0 1.161072e-15 FALSE 8.14963e-06 ENSE00001367617_015 ENSE00001367617 015 15 65234623 65234792 + 41 99 30 C A 65234697 1518 75 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGAACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942499 64942500 64942500 exon 34 0.3434343 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGAACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 77 367 1 0.9997923 0.9998962 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.03199547 0.07942016 0.8700001 0.9441884 NA 0.05570781 NA FALSE NA 1 2.613 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64942500 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 1.071202 0.95357 0.65087 0.615465 0.4417255 0 1.161072e-15 FALSE 4.07286e-06 ENSE00001367617_016 ENSE00001367617 016 15 65234623 65234792 + 41 99 30 C T 65234697 1519 75 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGTACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942499 64942500 64942500 exon 34 0.3434343 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGTACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 352 452 0.9978161 0.9940046 0.9959104 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.02981155 0.07363246 0.8700001 0.9441884 NA 0.051722 NA FALSE NA 1 2.613 NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00003510296 missense_variant 3.656551 0.96018 0.85833 0.615465 0.996214 0 1.161072e-15 FALSE 3.25828e-05 ENSE00001367617_017 ENSE00001367617 017 15 65234623 65234792 + 41 99 30 C A 65234699 1520 77 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCAAAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942501 64942502 64942502 exon 36 0.3636364 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCAAAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 485 394 0.85 0.85 0.85 470 10 0.9431436 0.95 0.9465718 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 -0.02486089 0.02962782 0.8700001 0.9441884 -0.02000012 0.002383468 0.02238359 FALSE FALSE 1 2.616 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 1 possibly_damaging(0.642) NA ACA C,A 8.236e-05 15:64942502 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 4.762963 0.9777 0.93896 0.615465 0.9749964 0 1.161072e-15 FALSE 6.51466e-05 ENSE00001367617_019 ENSE00001367617 019 15 65234623 65234792 + 41 99 30 G A 65234715 1522 93 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGATCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942517 64942518 64942518 exon -48 0.5252525 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGATCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 34 71 0.8337085 0.85 0.8418542 33 557 0.9736181 0.9802146 0.9769163 0.8586591 0.8813411 0.9680045 0.9203722 -0.02495062 -0.03134111 0.005613608 0.05984238 0.8700001 0.9441884 -0.02814587 0.03272799 0.06087386 FALSE FALSE 1 3.075 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 1 possibly_damaging(0.664) NA GGT G,A 8.236e-06 15:64942518 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 3.146292 0.84347 0.83602 0.615465 0.9963758 0 1.161072e-15 FALSE 4.06921e-06 ENSE00001367617_020 ENSE00001367617 020 15 65234623 65234792 + 41 99 30 C T 65234718 1523 96 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCTGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942520 64942521 64942521 exon -45 0.5555556 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCTGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 13 17 0.85 0.85 0.85 NA NA NA NA NA 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 NA NA 0.8700001 0.9441884 -0.02000012 NA NA NA FALSE 0.157 2.658 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64942521 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 5.922221 0.46616 0.28199 0.615465 0.9987075 0 1.161072e-15 FALSE 2.44228e-05 ENSE00001367617_021 ENSE00001367617 021 15 65234623 65234792 + 41 99 30 C A 65234718 1524 96 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCAGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942520 64942521 64942521 exon -45 0.5555556 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCAGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 163 95 0.008059453 0 0.004029727 477 47 0.8003378 0.8030744 0.8017061 0.8586591 0.8813411 0.9680045 0.9203722 -0.8505997 -0.8813411 -0.1676668 -0.1172978 0.8700001 0.9441884 -0.8659704 -0.1424823 0.7234881 FALSE TRUE 0.157 2.658 NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00003510296 synonymous_variant 2.044712 0.41546 0.1099 0.615465 0.493166 0 1.161072e-15 FALSE 2.03523e-05 ENSE00001367617_022 ENSE00001367617 022 15 65234623 65234792 + 41 99 30 G A 65234719 1525 97 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCAGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942521 64942522 64942522 exon -44 0.5656566 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCAGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 232 545 0.9754904 0.8411939 0.9083421 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.007485845 -0.07917826 0.8700001 0.9441884 NA -0.03584621 NA FALSE NA 0.133 0.384 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 1 benign(0.002) NA CGG G,A 8.236e-05 15:64942522 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 0.252625 0.18303 0.00282 0.615465 0.8657597 0 1.161072e-15 FALSE 6.91923e-05 ENSE00001367617_023 ENSE00001367617 023 15 65234623 65234792 + 41 99 30 C T 65234721 1526 99 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGTTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942523 64942524 64942524 exon -42 0.5858586 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGTTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 507 417 0.9702983 0.9102931 0.9402957 0.8586591 0.8813411 0.9680045 0.9203722 NA NA 0.002293746 -0.01007906 0.8700001 0.9441884 NA -0.003892655 NA FALSE NA 0.735 1.06 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 1 possibly_damaging(0.723) NA GCT C,T 8.236e-06 15:64942524 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 1.319052 0.96216 0.57158 0.615465 0.9845661 0 1.161072e-15 FALSE 8.13868e-06 ENSE00001367617_024 ENSE00001367617 024 15 65234623 65234792 + 41 99 30 A T 65234731 1527 109 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCATCTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942533 64942534 64942534 exon -32 0.6868687 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCATCTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant NA NA NA NA NA 1512 132 0.9380708 0.9783908 0.9582308 0.8586591 0.8813411 0.9680045 0.9203722 NA NA -0.02993371 0.05801864 0.8700001 0.9441884 NA 0.01404246 NA FALSE NA 0.998 6.29 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 1 benign(0.273) NA AAC A,T 8.236e-06 15:64942534 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 2.456011 0.28302 0.89944 0.660377 0.964372 0 1.161072e-15 FALSE 4.07077e-06 ENSE00001367617_025 ENSE00001367617 025 15 65234623 65234792 + 41 99 30 C T 65234735 1528 113 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCTGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942537 64942538 64942538 exon -28 0.7272727 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCTGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 14 41 0.85 0.85 0.85 162 128 0.876759 0.9231391 0.8999491 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 -0.09124552 0.002766938 0.8700001 0.9441884 -0.02000012 -0.04423929 0.02423917 FALSE FALSE 0 -3.161 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 10/15 rs369861157 1 NA T:0 T:0.0001 CCG C,T 6.589e-05 15:64942538 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 synonymous_variant 1.100329 0.19059 0.02017 0.660377 0.5308581 0 1.161072e-15 FALSE 8.96014e-05 ENSE00001367617_026 ENSE00001367617 026 15 65234623 65234792 + 41 99 30 G A 65234736 1529 114 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCAACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942538 64942539 64942539 exon -27 0.7373737 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCAACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 115 150 0.85 0.85 0.85 221 1143 0.9460379 0.9420805 0.9440592 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 -0.02196659 0.02170835 0.8700001 0.9441884 -0.02000012 -0.0001291164 0.019871 FALSE FALSE 0.518 0.747 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 rs373786884 1 benign(0.065) NA A:0 A:0.0001 CGA G,A 8.236e-06 15:64942539 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 0.604012 0.27546 0.12729 0.660377 0.4431945 0 1.161072e-15 FALSE NA ENSE00001367617_027 ENSE00001367617 027 15 65234623 65234792 + 41 99 30 C T 65234744 1530 122 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGATGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942546 64942547 64942547 exon -19 0.8181818 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGATGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 96 21 0.09240288 0.03131232 0.0618576 NA NA NA NA NA 0.8586591 0.8813411 0.9680045 0.9203722 -0.7662562 -0.8500288 NA NA 0.8700001 0.9441884 -0.8081425 NA NA NA TRUE 1 2.056 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 10/15 1 NA ACG C,T 8.236e-06 15:64942547 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 synonymous_variant 1.376902 0.96587 0.76632 0.660377 0.5047499 0 1.161072e-15 FALSE 8.15634e-06 ENSE00001367617_028 ENSE00001367617 028 15 65234623 65234792 + 41 99 30 C T 65234753 1531 131 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCTGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942555 64942556 64942556 exon -10 0.9090909 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCTGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 29 133 0.85 0.85 0.85 693 212 0.9387167 0.9471161 0.9429164 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 -0.0292878 0.0267439 0.8700001 0.9441884 -0.02000012 -0.001271951 0.01872817 FALSE FALSE 0.072 0.665 rs139783493 synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 10/15 rs139783493 1 NA T:0 T:0.0002 CCG C,T 0.0001483 15:64942556 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 synonymous_variant 1.878315 0.37734 0.08627 0.660377 0.5539782 0 1.161072e-15 FALSE 0.000130833 ENSE00001367617_029 ENSE00001367617 029 15 65234623 65234792 + 41 99 30 G A 65234754 1532 132 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCATGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC 64942425 64942595 64942556 64942557 64942557 exon -9 0.9191919 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCATGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 168 106 0.85 0.85 0.85 651 100 0.9499605 0.9602994 0.95513 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 -0.018044 0.03992723 0.8700001 0.9441884 -0.02000012 0.01094162 0.03094173 FALSE FALSE 0.003 0.152 rs114960534 missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 10/15 rs114960534 1 benign(0.04) A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.003 A:0 CGT A,A 0.0002718 15:64942557 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 missense_variant 0.809167 0.14806 0.01062 0.660377 0.8702236 0 1.161072e-15 FALSE 0.000208857 ENSE00001367617_030 ENSE00001367617 030 15 65234623 65234792 + 41 99 30 A T 65234773 1533 151 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTTCAGAGACCTTCCGGGCCCC 64942425 64942595 64942575 64942576 64942576 downstr_intron 11 1.37931 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTTCAGAGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 98 63 0.85 0.85 0.85 707 32 0.8843816 0.9642444 0.924313 0.8586591 0.8813411 0.9680045 0.9203722 -0.00865912 -0.03134111 -0.08362294 0.04387218 0.8700001 0.9441884 -0.02000012 -0.01987538 0.0001247367 FALSE FALSE 0 -1.512 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 10/14 1 NA TAC A,T 2.471e-05 15:64942576 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 intron_variant 1.007617 0.10487 0.01551 0.065574 0.8027475 0.0477024 1.161072e-15 FALSE 2.52334e-05 ENSE00001367617_031 ENSE00001367617 031 15 65234623 65234792 + 41 99 30 A G 65234777 1534 155 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGGGACCTTCCGGGCCCC 64942425 64942595 64942579 64942580 64942580 downstr_intron 15 1.517241 GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGGGACCTTCCGGGCCCC GGGAGGGACTGGTCGATTGATCCGTGTATCTCCTCCCACAGCAGGGTGCCTCTCCTCTGCACCTCGCTGTGAGGCACAACTTCCCTGCCTTGGTCCGGCTCCTCATCAACTCCGACAGTGACGTGAATGCCGTGGACAATGTAAGTGGCTACAGAGACCTTCCGGGCCCC mutant 49 115 0.8387321 0.85 0.8443661 295 65 0.9420404 0.9757089 0.9588746 0.8586591 0.8813411 0.9680045 0.9203722 -0.01992702 -0.03134111 -0.02596415 0.05533668 0.8700001 0.9441884 -0.02563407 0.01468627 0.04032033 FALSE FALSE 0.001 -0.087 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 10/14 1 NA GAG A,G 8.238e-06 15:64942580 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003510296 intron_variant 0.99998 0.15093 0.00328 0.065574 0.659848 0.048454 1.161072e-15 FALSE NA ENSE00001370641_000 ENSE00001370641 000 4 109817766 109817935 - 57 45 68 NA NA NA NA NA ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 NA NA NA NA NA NA TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT natural 24 29 0.9992667 0.9989541 0.9991104 644 1639 0.9917504 0.9002016 0.945976 0.9992667 0.9989541 0.9917504 0.9002016 0 0 0 0 0.9991104 0.945976 0 0 0 FALSE FALSE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001370641 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001370641_001 ENSE00001370641 001 4 109817766 109817935 - 57 45 68 T G 109817779 1249 157 ACTTGAAGTATATGTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896622 108896623 108896623 downstr_intron 44 1.785714 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGACATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 582 12 0.997354 0.9604044 0.9788792 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.005603516 0.06020274 0.9991104 0.945976 NA 0.03290313 NA FALSE NA 0 0.249 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 15/32 rs573609052 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TTT T,G 3.31e-05 4:108896623 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.133885 0.19929 0.06793 0.053691 0.3450827 0.0436289 7.11572e-08 FALSE 2.44754e-05 ENSE00001370641_002 ENSE00001370641 002 4 109817766 109817935 - 57 45 68 C T 109817785 1250 151 ACTTGAAGTATATTTCTTGTTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896628 108896629 108896629 downstr_intron 38 1.678571 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAACAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 1134 1360 0.2651996 0.3803315 0.3227656 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.7265508 -0.5198702 0.9991104 0.945976 NA -0.6232105 NA TRUE NA 0 -0.841 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 15/32 rs545740254 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCT C,T 4.138e-05 4:108896629 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.336101 0.18743 0.08036 0.053691 0.6806346 0.0431032 7.11572e-08 FALSE 2.03962e-05 ENSE00001370641_003 ENSE00001370641 003 4 109817766 109817935 - 57 45 68 C G 109817787 1251 149 ACTTGAAGTATATTTCTTGCTGACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896630 108896631 108896631 downstr_intron 36 1.642857 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTCAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 1013 411 0.9945535 0.9918228 0.9931881 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.002803039 0.09162115 0.9991104 0.945976 NA 0.04721209 NA FALSE NA 0 0.267 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 15/32 1 NA TCA C,G 8.276e-06 4:108896631 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant -0.362041 0.16816 0.13153 0.053691 0.521941 0.0431032 7.11572e-08 FALSE NA ENSE00001370641_004 ENSE00001370641 004 4 109817766 109817935 - 57 45 68 T C 109817795 1252 141 ACTTGAAGTATATTTCTTGCTCACATATGCACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896638 108896639 108896639 downstr_intron 28 1.5 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTGCATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 489 516 0.9994094 0.9938728 0.9966411 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.00765895 0.09367119 0.9991104 0.945976 NA 0.05066507 NA FALSE NA 0 -1.324 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 15/32 1 NA GTA T,C 8.276e-06 4:108896639 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.16327 0.10031 0.00425 0.053691 0.2326033 0.0431032 7.11572e-08 FALSE 4.06263e-06 ENSE00001370641_006 ENSE00001370641 006 4 109817766 109817935 - 57 45 68 C T 109817797 1254 139 ACTTGAAGTATATTTCTTGCTCACATATGTATCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896640 108896641 108896641 downstr_intron 26 1.464286 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGATACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 634 769 0.982894 0.9738519 0.9783729 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.008856488 0.07365023 0.9991104 0.945976 NA 0.03239687 NA FALSE NA 0 -1.203 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:108896641 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.085606 0.17223 0.05273 0.053691 0.5886045 0.0813926 7.11572e-08 FALSE 8.12513e-06 ENSE00001370641_007 ENSE00001370641 007 4 109817766 109817935 - 57 45 68 C A 109817797 1255 139 ACTTGAAGTATATTTCTTGCTCACATATGTAACCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896640 108896641 108896641 downstr_intron 26 1.464286 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGTTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 578 37 0.9926455 1 0.9963228 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.0008950878 0.09979836 0.9991104 0.945976 NA 0.05034672 NA FALSE NA 0 -1.203 NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001370641 intron_variant 0.060521 0.1738 0.06033 0.053691 0.5263945 0.0813926 7.11572e-08 FALSE 0.000109689 ENSE00001370641_008 ENSE00001370641 008 4 109817766 109817935 - 57 45 68 T C 109817801 1256 135 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTCTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896644 108896645 108896645 downstr_intron 22 1.392857 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAGAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 79 266 1 0.9951345 0.9975673 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.008249552 0.09493286 0.9991104 0.945976 NA 0.05159121 NA FALSE NA 0.01 1.453 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 15/32 rs368099379 1 NA C:0.0005 C:0 TTT T,C 4.966e-05 4:108896645 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.202664 0.23025 0.09433 0.053691 0.4675473 0.0813926 7.11572e-08 FALSE 6.90574e-05 ENSE00001370641_009 ENSE00001370641 009 4 109817766 109817935 - 57 45 68 T C 109817807 1257 129 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGCCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896650 108896651 108896651 downstr_intron 16 1.285714 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGGCATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 669 327 0.9926353 0.9893203 0.9909778 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.000884901 0.08911866 0.9991104 0.945976 NA 0.04500178 NA FALSE NA 0.023 0.31 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 15/32 1 NA GTC T,C 1.655e-05 4:108896651 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant -0.06858 0.16785 0.07548 0.053691 0.2856342 0.0788646 7.11572e-08 FALSE 1.62483e-05 ENSE00001370641_010 ENSE00001370641 010 4 109817766 109817935 - 57 45 68 C T 109817812 1258 124 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTATAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896655 108896656 108896656 downstr_intron 11 1.196429 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTATAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 146 822 0.9645995 0.7674628 0.8660312 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.0271509 -0.1327388 0.9991104 0.945976 NA -0.07994486 NA FALSE NA 0 -0.524 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 15/32 1 NA ACA C,T 8.276e-06 4:108896656 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.084453 0.1488 0.02657 0.053691 0.6641932 0.0788646 7.11572e-08 FALSE 8.12453e-06 ENSE00001370641_011 ENSE00001370641 011 4 109817766 109817935 - 57 45 68 T A 109817818 1259 118 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACAGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896661 108896662 108896662 downstr_intron 5 1.089286 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACTGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 1333 84 0.9481096 0.8227875 0.8854486 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.04364082 -0.0774141 0.9991104 0.945976 NA -0.06052746 NA FALSE NA 0 -1.147 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 15/32 1 NA CTG T,A 2.483e-05 4:108896662 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 splice_region_variant 0.666887 0.17013 0.05481 0.053691 0.6205327 0.152857 7.11572e-08 FALSE 2.03087e-05 ENSE00001370641_012 ENSE00001370641 012 4 109817766 109817935 - 57 45 68 G A 109817829 1260 107 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCACCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896672 108896673 108896673 exon -7 0.8666667 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGTGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 1712 514 0.6539638 0.8009831 0.7274735 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.3377866 -0.09921852 0.9991104 0.945976 NA -0.2185026 NA FALSE NA 0.771 -0.43 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 15/33 1 NA CGC G,A 4.138e-05 4:108896673 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 synonymous_variant 0.554957 0.59329 0.19058 0.615465 0.5206909 0 7.11572e-08 FALSE 2.84391e-05 ENSE00001370641_013 ENSE00001370641 013 4 109817766 109817935 - 57 45 68 C A 109817837 1261 99 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTAACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896680 108896681 108896681 exon -15 0.6888889 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTTACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 53 15 1 1 1 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.008249552 0.09979836 0.9991104 0.945976 NA 0.05402395 NA FALSE NA 1 4.457 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 15/33 1 probably_damaging(0.912) NA TCA C,A 8.276e-06 4:108896681 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 missense_variant 4.165715 0.98798 0.96559 0.615465 0.9429079 0 7.11572e-08 FALSE 4.06256e-06 ENSE00001370641_015 ENSE00001370641 015 4 109817766 109817935 - 57 45 68 G A 109817850 1263 86 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCATTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896693 108896694 108896694 exon 18 0.4 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAATGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 131 838 0.8250355 0.7979517 0.8114936 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.166715 -0.1022499 0.9991104 0.945976 NA -0.1344824 NA FALSE NA 0.034 0.055 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 15/33 rs202006504 1 A:0.0000 A:0 A:0 NA A:0 A:0 A:0 A:0.0003 A:0.0001 CGT G,A 6.621e-05 4:108896694 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 synonymous_variant -0.099485 0.71592 0.00485 0.615465 0.408069 0 7.11572e-08 FALSE 7.31428e-05 ENSE00001370641_016 ENSE00001370641 016 4 109817766 109817935 - 57 45 68 C T 109817861 1264 75 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGTGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896704 108896705 108896705 exon 7 0.1555556 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACACTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 1146 1442 0.8679127 0.8440834 0.8559981 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.1238378 -0.05611821 0.9991104 0.945976 NA -0.08997798 NA FALSE NA 0.998 1.042 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 15/33 1 benign(0.056) NA GCG C,T 2.483e-05 4:108896705 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 missense_variant 3.151189 0.96926 0.85028 0.615465 0.8849753 0 7.11572e-08 FALSE 2.43811e-05 ENSE00001370641_017 ENSE00001370641 017 4 109817766 109817935 - 57 45 68 G A 109817862 1265 74 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCATCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896705 108896706 108896706 exon 6 0.1333333 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGATGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 618 871 0.7354916 0.8927785 0.814135 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.2562589 -0.007423193 0.9991104 0.945976 NA -0.131841 NA FALSE NA 0.994 0.29 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 15/33 rs375017466 1 NA A:0 A:0.0002 CGT G,A 1.655e-05 4:108896706 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 synonymous_variant 0.792169 0.9319 0.07944 0.615465 0.5764751 0 7.11572e-08 FALSE 5.68958e-05 ENSE00001370641_018 ENSE00001370641 018 4 109817766 109817935 - 57 45 68 A G 109817871 1266 65 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGGGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896714 108896715 108896715 upstr_intron -4 -0.04411765 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCCCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 662 271 0.9950479 1 0.9975239 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.003297442 0.09979836 0.9991104 0.945976 NA 0.0515479 NA FALSE NA 0.064 0.157 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 14/32 rs368501198 1 NA G:0 G:0.0001 GAG A,G 1.655e-05 4:108896715 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 splice_region_variant 1.379897 0.94609 0.09575 0.053691 0.7399532 0.276987 7.11572e-08 FALSE 1.21909e-05 ENSE00001370641_020 ENSE00001370641 020 4 109817766 109817935 - 57 45 68 G A 109817878 1268 58 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTAAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896721 108896722 108896722 upstr_intron -11 -0.1470588 TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTTACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 250 720 0.8388706 0.9984593 0.918665 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.1528798 0.09825764 0.9991104 0.945976 NA -0.02731108 NA FALSE NA 0 -0.148 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 14/32 1 NA TGA G,A 8.276e-06 4:108896722 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant -0.167657 0.11604 0.00503 0.053691 0.4475847 0.142868 7.11572e-08 FALSE 4.06372e-06 ENSE00001370641_021 ENSE00001370641 021 4 109817766 109817935 - 57 45 68 A C 109817902 1269 34 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACCTTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896745 108896746 108896746 upstr_intron -35 -0.5 TAATGAAAAATATTATCTGCTTGACGTCACCAAGGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 2411 342 0.85649 0.9214973 0.8889937 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.1352604 0.02129566 0.9991104 0.945976 NA -0.0569824 NA FALSE NA 0 0.107 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 14/32 rs372586217 1 NA C:0 C:0.0001 CAT A,C 4.966e-05 4:108896746 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant -0.037543 0.18413 0.10213 0.053691 0.5075372 0.137611 7.11572e-08 FALSE 4.06742e-05 ENSE00001370641_022 ENSE00001370641 022 4 109817766 109817935 - 57 45 68 C T 109817910 1270 26 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGATGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896753 108896754 108896754 upstr_intron -43 -0.6176471 TAATGAAAAATATTATCTGCTTGACATCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 343 1311 0.9831067 0.9992083 0.9911575 0.9992667 0.9989541 0.9917504 0.9002016 NA NA -0.008643793 0.09900662 0.9991104 0.945976 NA 0.04518141 NA FALSE NA 0.001 -0.03 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 14/32 1 NA ACG C,T 8.277e-06 4:108896754 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.139864 0.15799 0.01901 0.053691 0.5319652 0.0821837 7.11572e-08 FALSE 4.0784e-06 ENSE00001370641_023 ENSE00001370641 023 4 109817766 109817935 - 57 45 68 G A 109817911 1271 25 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACATCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896754 108896755 108896755 upstr_intron -44 -0.6323529 TAATGAAAAATATTATCTGCTTGATGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 213 510 0.9958706 0.9872751 0.9915729 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.004120155 0.08707346 0.9991104 0.945976 NA 0.04559681 NA FALSE NA 0 -0.274 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 14/32 1 NA CGT G,A 9.932e-05 4:108896755 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.111325 0.11617 0.00149 0.053691 0.4858941 0.139486 7.11572e-08 FALSE 8.16607e-05 ENSE00001370641_024 ENSE00001370641 024 4 109817766 109817935 - 57 45 68 T C 109817912 1272 24 ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTACCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCCTGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGCCAAGCAGATAATATTTTTCATTA 108896609 108896779 108896755 108896756 108896756 upstr_intron -45 -0.6470588 TAATGAAAAATATTATCTGCTTGGCGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT mutant NA NA NA NA NA 72 62 0.9988512 0.9929492 0.9959002 0.9992667 0.9989541 0.9917504 0.9002016 NA NA 0.00710076 0.09274756 0.9991104 0.945976 NA 0.04992416 NA FALSE NA 0.001 0.847 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 14/32 1 NA GTC T,C 8.277e-06 4:108896756 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001370641 intron_variant 0.211266 0.1764 0.10608 0.053691 0.2861633 0.0821837 7.11572e-08 FALSE NA ENSE00001370641_BRK ENSE00001370641 BRK 4 109817766 109817935 - 57 45 68 A,G; T,T NA NA NA ACTTGAAGTATATTTCTTGCTCACATATGTACCCTTTCATGTCTTACAAAACTGTGGCTTTTCGCCTGTGTCACCCTTGGGGCCGTTCTCTCCAGCGTCTCCAAGAGGAGGTGAGAAAGTGACACATGTAAAATACATTGGTGACGTCAAGCAGATAATATTTTTCATTA 108896609 108896779 NA NA NA NA NA NA TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCTTGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGCCACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT TAATGAAAAATATTATCTGCTTGACGTCACCAATGTATTTTACATGTGTCACTTTCTCACCTCCTCAGGGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGCGAAAAGGTACAGTTTTGTAAGACATGAAAGGGTACATATGTGAGCAAGAAATATACTTCAAGT control 80 46 0 0 0 332 567 0.06785835 0.00056444 0.03421139 0.9992667 0.9989541 0.9917504 0.9002016 -0.9992667 -0.9989541 -0.9238921 -0.8996372 0.9991104 0.945976 -0.9991104 -0.9117647 0.08734578 TRUE TRUE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001370641 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001371908_000 ENSE00001371908 000 1 203472000 203472169 + 42 96 32 NA NA NA NA NA TTATCACCCTTGCTCTGGGTGGTGCTCCTTACCTGCAGGTGTACAGAGCGCAGGCTCAGGGGCAAAGGCCCCGGGATAGAATCCAGCAGGTTGTCTGACAGGTAAAGGAACTGCAGCTTCTCCATTGCCTGTGGAGAAAGCAAAGAGTGTAGGAGGCTGGTGGGTCCTGT 203502871 203503041 NA NA NA NA NA NA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA natural NA NA NA NA NA 1357 753 0.9106619 0.9825959 0.9466289 NA NA 0.9106619 0.9825959 NA NA 0 0 NA 0.9466289 NA 0 NA FALSE NA NA NA NA NA NA OPTC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OPTC NA NA NA ENSG00000188770 ENSE00001371908 NA NA NA NA NA NA NA 4.312729e-07 FALSE NA ENSE00001371908_002 ENSE00001371908 002 1 203472000 203472169 + 42 96 32 C T 203472015 4705 16 ACAGGACCCACCAGCTTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA 203502871 203503041 203502886 203502887 203502887 upstr_intron -27 -0.6190476 ACAGGACCCACCAGCTTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 47 452 1 1 1 NA NA 0.9106619 0.9825959 NA NA 0.0893381 0.01740405 NA 0.9466289 NA 0.05337107 NA FALSE NA 0 0.444 . downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 1 NA CCT C,T 3.295e-05 1:203502887 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 intron_variant 0.36709 0.26963 0.00879 0.06567 0.5934851 0.525262 4.312729e-07 FALSE 2.85572e-05 ENSE00001371908_006 ENSE00001371908 006 1 203472000 203472169 + 42 96 32 C T 203472039 4709 40 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCATAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA 203502871 203503041 203502910 203502911 203502911 upstr_intron -3 -0.04761905 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCATAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 160 27 1 1 1 NA NA 0.9106619 0.9825959 NA NA 0.0893381 0.01740405 NA 0.9466289 NA 0.05337107 NA FALSE NA 0.906 2.056 . downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 1 NA ACA C,T 8.237e-06 1:203502911 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 splice_region_variant 0.573932 0.74091 0.74548 0.06567 0.606925 0.139225 4.312729e-07 FALSE 4.06726e-06 ENSE00001371908_007 ENSE00001371908 007 1 203472000 203472169 + 42 96 32 C T 203472043 4710 44 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGTAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA 203502871 203503041 203502914 203502915 203502915 exon 2 0.02083333 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGTAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 21 244 0.9980237 0.8 0.8990118 NA NA 0.9106619 0.9825959 NA NA 0.08736177 -0.1825959 NA 0.9466289 NA -0.04761709 NA FALSE NA 0.939 1.781 . downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 rs538582043 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCA C,T 8.237e-06 1:203502915 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 missense_variant 0.978643 0.72246 0.60906 0.656854 0.9667493 0 4.312729e-07 FALSE 4.06689e-06 ENSE00001371908_013 ENSE00001371908 013 1 203472000 203472169 + 42 96 32 C G 203472081 4716 82 TTATCACCCTTGCTCTGGGTGGTGCTCCTTACCTGCAGGTGTACAGAGCGCAGGCTCAGGGGCAAAGGCCCCGGGATAGAATCCAGCACGTTGTCTGACAGGTAAAGGAACTGCAGCTTCTCCATTGCCTGTGGAGAAAGCAAAGAGTGTAGGAGGCTGGTGGGTCCTGT 203502871 203503041 203502952 203502953 203502953 exon 40 0.4166667 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACGTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 235 412 0.9893324 0.8911157 0.940224 NA NA 0.9106619 0.9825959 NA NA 0.0786705 -0.09148025 NA 0.9466289 NA -0.006404877 NA FALSE NA 0.884 0.031 . downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 1 NA CCT C,G 8.237e-06 1:203502953 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 missense_variant 0.840121 0.9569 0.74421 0.656854 0.9557824 0 4.312729e-07 FALSE 4.06514e-06 ENSE00001371908_014 ENSE00001371908 014 1 203472000 203472169 + 42 96 32 C A 203472084 4717 85 TTATCACCCTTGCTCTGGGTGGTGCTCCTTACCTGCAGGTGTACAGAGCGCAGGCTCAGGGGCAAAGGCCCCGGGATAGAATCCATCAGGTTGTCTGACAGGTAAAGGAACTGCAGCTTCTCCATTGCCTGTGGAGAAAGCAAAGAGTGTAGGAGGCTGGTGGGTCCTGT 203502871 203503041 203502955 203502956 203502956 exon 43 0.4479167 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGATGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 402 341 1 1 1 NA NA 0.9106619 0.9825959 NA NA 0.0893381 0.01740405 NA 0.9466289 NA 0.05337107 NA FALSE NA 0.979 0.553 . downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 1 NA GCT C,A 8.237e-06 1:203502956 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 missense_variant 4.867543 0.96842 0.63706 0.656854 0.9937015 0 4.312729e-07 FALSE NA ENSE00001371908_017 ENSE00001371908 017 1 203472000 203472169 + 42 96 32 C T 203472097 4720 98 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCTGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA 203502871 203503041 203502968 203502969 203502969 exon -41 0.5833333 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCTGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 114 49 0.8415915 1 0.9207957 NA NA 0.9106619 0.9825959 NA NA -0.06907042 0.01740405 NA 0.9466289 NA -0.02583318 NA FALSE NA 1 4.78 . downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 1 NA CCG C,T 4.942e-05 1:203502969 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 missense_variant 5.123829 0.97809 0.87333 0.656854 0.9924197 0 4.312729e-07 FALSE 5.28528e-05 ENSE00001371908_018 ENSE00001371908 018 1 203472000 203472169 + 42 96 32 G A 203472098 4721 99 TTATCACCCTTGCTCTGGGTGGTGCTCCTTACCTGCAGGTGTACAGAGCGCAGGCTCAGGGGCAAAGGCCCTGGGATAGAATCCAGCAGGTTGTCTGACAGGTAAAGGAACTGCAGCTTCTCCATTGCCTGTGGAGAAAGCAAAGAGTGTAGGAGGCTGGTGGGTCCTGT 203502871 203503041 203502969 203502970 203502970 exon -40 0.59375 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCAGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 65 18 1 1 1 NA NA 0.9106619 0.9825959 NA NA 0.0893381 0.01740405 NA 0.9466289 NA 0.05337107 NA FALSE NA 0 -5.985 rs77566947 downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 rs77566947 1 A:0.0172 A:0.0552 A:0.0029 NA A:0 A:0.002 A:0.0092 A:0.039 A:0.0021 CGG G,A 0.007463 1:203502970 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 synonymous_variant -0.350273 0.04822 0.00451 0.656854 0.527984 0 4.312729e-07 FALSE 0.00633472 ENSE00001371908_019 ENSE00001371908 019 1 203472000 203472169 + 42 96 32 G C 203472101 4722 102 TTATCACCCTTGCTCTGGGTGGTGCTCCTTACCTGCAGGTGTACAGAGCGCAGGCTCAGGGGCAAAGGGCCCGGGATAGAATCCAGCAGGTTGTCTGACAGGTAAAGGAACTGCAGCTTCTCCATTGCCTGTGGAGAAAGCAAAGAGTGTAGGAGGCTGGTGGGTCCTGT 203502871 203503041 203502972 203502973 203502973 exon -37 0.625 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGCCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 46 99 1 0.9725041 0.986252 NA NA 0.9106619 0.9825959 NA NA 0.0893381 -0.01009186 NA 0.9466289 NA 0.03962312 NA FALSE NA 0.336 0.526 . downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 rs374044595 1 NA C:0.0005 C:0 GGC G,C 3.295e-05 1:203502973 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 synonymous_variant -0.486975 0.96409 0.49751 0.656854 0.4830598 0 4.312729e-07 FALSE 3.65913e-05 ENSE00001371908_022 ENSE00001371908 022 1 203472000 203472169 + 42 96 32 T C 203472112 4725 113 TTATCACCCTTGCTCTGGGTGGTGCTCCTTACCTGCAGGTGTACAGAGCGCAGGCTCGGGGGCAAAGGCCCCGGGATAGAATCCAGCAGGTTGTCTGACAGGTAAAGGAACTGCAGCTTCTCCATTGCCTGTGGAGAAAGCAAAGAGTGTAGGAGGCTGGTGGGTCCTGT 203502871 203503041 203502983 203502984 203502984 exon -26 0.7395833 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCCGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 13 207 1 1 1 NA NA 0.9106619 0.9825959 NA NA 0.0893381 0.01740405 NA 0.9466289 NA 0.05337107 NA FALSE NA 0.052 1.284 rs79523790 downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 rs79523790&COSM146740 1 C:0.1238 C:0.1672 C:0.0692 NA C:0.1935 C:0.0646 C:0.093 C:0.1312 C:0.0427 CTG T,C 0.073 1:203502984 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 missense_variant 1.680397 0.9274 0.13857 0.656854 0.9648371 0 4.312729e-07 FALSE 0.0716871 ENSE00001371908_029 ENSE00001371908 029 1 203472000 203472169 + 42 96 32 C A 203472151 4732 152 TTATCACCCTTGCTCTGGTTGGTGCTCCTTACCTGCAGGTGTACAGAGCGCAGGCTCAGGGGCAAAGGCCCCGGGATAGAATCCAGCAGGTTGTCTGACAGGTAAAGGAACTGCAGCTTCTCCATTGCCTGTGGAGAAAGCAAAGAGTGTAGGAGGCTGGTGGGTCCTGT 203502871 203503041 203503022 203503023 203503023 downstr_intron 14 1.451613 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCAACCAGAGCAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 52 34 1 1 1 NA NA 0.9106619 0.9825959 NA NA 0.0893381 0.01740405 NA 0.9466289 NA 0.05337107 NA FALSE NA 0 -1.791 . downstream_gene_variant MODIFIER OPTC HGNC 8158 ENST00000448911 1 NA ACC C,A 8.238e-06 1:203503023 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 intron_variant 0.33848 0.16161 0.01326 0.06567 0.6381854 0.0503722 4.312729e-07 FALSE 4.07734e-06 ENSE00001371908_032 ENSE00001371908 032 1 203472000 203472169 + 42 96 32 C G 203472158 4735 159 TTATCACCCTTCCTCTGGGTGGTGCTCCTTACCTGCAGGTGTACAGAGCGCAGGCTCAGGGGCAAAGGCCCCGGGATAGAATCCAGCAGGTTGTCTGACAGGTAAAGGAACTGCAGCTTCTCCATTGCCTGTGGAGAAAGCAAAGAGTGTAGGAGGCTGGTGGGTCCTGT 203502871 203503041 203503029 203503030 203503030 downstr_intron 21 1.677419 ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGGAAGGGTGATAA ACAGGACCCACCAGCCTCCTACACTCTTTGCTTTCTCCACAGGCAATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGGTAAGGAGCACCACCCAGAGCAAGGGTGATAA mutant NA NA NA NA NA 14 120 1 0.9923558 0.9961779 NA NA 0.9106619 0.9825959 NA NA 0.0893381 0.009759891 NA 0.9466289 NA 0.04954899 NA FALSE NA 0.005 0.975 NA NA NA OPTC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:203503030 OPTC HGNC Symbol protein_coding 14721 ENSG00000188770 ENSE00001371908 intron_variant 0.400678 0.2022 0.03137 0.06567 0.799416 0.0496008 4.312729e-07 FALSE 8.16907e-06 ENSE00001372048_000 ENSE00001372048 000 19 1251779 1251948 + 59 63 48 NA NA NA NA NA CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 NA NA NA NA NA NA CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG natural 143 269 0.834514 0.8612068 0.8478604 1281 1985 0.9509622 0.923974 0.9374681 0.834514 0.8612068 0.9509622 0.923974 0 0 0 0 0.8478604 0.9374681 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MIDN NA NA NA ENSG00000167470 ENSE00003745794 NA NA NA NA NA NA NA 0.04906265 FALSE NA ENSE00001372048_004 ENSE00001372048 004 19 1251779 1251948 + 59 63 48 G C 1251799 4 21 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTGGGAATCCTGGGCTGGAATAG 1251779 1251949 1251799 1251800 1251800 upstr_intron -39 -0.6440678 CTATTCCAGCCCAGGATTCCCACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 37 739 0.8270936 0.7858129 0.8064532 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.1238686 -0.1381611 0.8478604 0.9374681 NA -0.1310149 NA FALSE NA 0 -1.097 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:1251800 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant -0.61063 0.18624 0.02942 0.08998 0.3278183 0.0694131 0.04906265 FALSE 1.23533e-05 ENSE00001372048_006 ENSE00001372048 006 19 1251779 1251948 + 59 63 48 C T 1251802 6 24 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGAGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251802 1251803 1251803 upstr_intron -36 -0.5932203 CTATTCCAGCCCAGGATTCCGACTCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 509 153 0.9818863 0.9619345 0.9719104 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.03092411 0.03796044 0.8478604 0.9374681 NA 0.03444227 NA FALSE NA 0 -0.419 NA NA NA MIDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:1251803 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 0.214746 0.21683 0.08429 0.08998 0.4613368 0.0693195 0.04906265 FALSE 4.10297e-06 ENSE00001372048_009 ENSE00001372048 009 19 1251779 1251948 + 59 63 48 A C 1251807 9 29 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGGGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251807 1251808 1251808 upstr_intron -31 -0.5084746 CTATTCCAGCCCAGGATTCCGACCCCACCCTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 87 384 0.8 0.7922607 0.7961304 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.1509622 -0.1317133 0.8478604 0.9374681 NA -0.1413377 NA FALSE NA 0 0.23 . intron_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 1/2 rs375775097 1 NA C:0.0002 C:0 CAC A,C 8.251e-06 19:1251808 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant -0.167689 0.16645 0.05321 0.08998 0.7750086 0.0693639 0.04906265 FALSE 4.09725e-06 ENSE00001372048_013 ENSE00001372048 013 19 1251779 1251948 + 59 63 48 C A 1251816 13 38 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGTGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251816 1251817 1251817 upstr_intron -22 -0.3559322 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCACTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 592 794 0.8155149 0.9731063 0.8943106 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.1354473 0.0491323 0.8478604 0.9374681 NA -0.04315749 NA FALSE NA 0 0.048 . intron_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 1/2 1 NA CCC C,A 8.251e-06 19:1251817 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 0.37337 0.23964 0.14183 0.08998 0.7679568 0.110439 0.04906265 FALSE 8.16953e-06 ENSE00001372048_016 ENSE00001372048 016 19 1251779 1251948 + 59 63 48 C T 1251821 16 43 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGAAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251821 1251822 1251822 upstr_intron -17 -0.2711864 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTTCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 349 281 0.9997639 1 0.999882 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.04880175 0.07602597 0.8478604 0.9374681 NA 0.06241386 NA FALSE NA 0 -0.624 NA NA NA MIDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:1251822 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 0.208145 0.22032 0.02107 0.08998 0.8347818 0.190476 0.04906265 FALSE 0.00198816 ENSE00001372048_020 ENSE00001372048 020 19 1251779 1251948 + 59 63 48 C T 1251826 20 48 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAAGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251826 1251827 1251827 upstr_intron -12 -0.1864407 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCTTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 55 212 1 0.9996402 0.9998201 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.04903783 0.07566614 0.8478604 0.9374681 NA 0.06235198 NA FALSE NA 0 -1.166 . intron_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 1/2 1 NA CCT C,T 1.65e-05 19:1251827 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 0.313656 0.7196 0.18179 0.08998 0.8124144 0.380132 0.04906265 FALSE 2.4488e-05 ENSE00001372048_024 ENSE00001372048 024 19 1251779 1251948 + 59 63 48 C T 1251846 24 68 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAAGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251846 1251847 1251847 exon 9 0.1428571 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCTTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 106 48 0.95 0.9633954 0.9566977 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.0009621732 0.03942138 0.8478604 0.9374681 NA 0.0192296 NA FALSE NA 0.994 0.555 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/3 rs371232967 1 NA T:0.0002 T:0 CCT C,T 2.474e-05 19:1251847 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 synonymous_variant 1.91011 0.90667 0.7672 0.542737 0.958042 0 0.04906265 FALSE 2.85563e-05 ENSE00001372048_025 ENSE00001372048 025 19 1251779 1251948 + 59 63 48 C T 1251848 25 70 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTAAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251848 1251849 1251849 exon 11 0.1746032 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTTAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 14 59 0.8 0.8024487 0.8012243 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.1509622 -0.1215253 0.8478604 0.9374681 NA -0.1362438 NA FALSE NA 0.992 6.567 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/3 1 NA TCA C,T 8.248e-06 19:1251849 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 missense_variant 6.168633 0.9542 0.97007 0.542737 0.9985363 0 0.04906265 FALSE 4.07963e-06 ENSE00001372048_027 ENSE00001372048 027 19 1251779 1251948 + 59 63 48 G A 1251852 27 74 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGTCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251852 1251853 1251853 exon 15 0.2380952 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGACCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 45 161 0.9965769 0.9849554 0.9907661 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.04561476 0.06098133 0.8478604 0.9374681 NA 0.05329805 NA FALSE NA 0.999 0.877 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:1251853 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 synonymous_variant 1.378266 0.88487 0.67953 0.542737 0.936567 0 0.04906265 FALSE 2.04072e-05 ENSE00001372048_029 ENSE00001372048 029 19 1251779 1251948 + 59 63 48 C T 1251854 29 76 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCAGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251854 1251855 1251855 exon 17 0.2698413 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCTGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 53 90 0.95 0.8819163 0.9159581 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.0009621732 -0.04205774 0.8478604 0.9374681 NA -0.02150996 NA FALSE NA 1 6.518 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:1251855 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 missense_variant 6.723009 0.95463 0.94018 0.542737 0.9974486 0 0.04906265 FALSE 8.16553e-06 ENSE00001372048_030 ENSE00001372048 030 19 1251779 1251948 + 59 63 48 C G 1251854 30 76 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCCGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251854 1251855 1251855 exon 17 0.2698413 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCGGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 463 214 0.9981183 0.981324 0.9897212 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.04715616 0.05734996 0.8478604 0.9374681 NA 0.05225306 NA FALSE NA 1 6.518 NA NA NA MIDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MIDN NA NA NA ENSG00000167470 ENSE00003745794 missense_variant 4.351204 0.95632 0.95004 0.542737 0.9966715 0 0.04906265 FALSE 4.08277e-06 ENSE00001372048_032 ENSE00001372048 032 19 1251779 1251948 + 59 63 48 G A 1251861 32 83 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGATTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251861 1251862 1251862 exon 24 0.3809524 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAATCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 16 93 0.95 0.8313017 0.8906509 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.0009621732 -0.09267229 0.8478604 0.9374681 NA -0.04681723 NA FALSE NA 1 3.6 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/3 rs377700904 1 NA A:0.0002 A:0 AGT G,A 2.474e-05 19:1251862 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 synonymous_variant 0.470063 0.92702 0.85182 0.542737 0.9581898 0 0.04906265 FALSE 1.63333e-05 ENSE00001372048_033 ENSE00001372048 033 19 1251779 1251948 + 59 63 48 C T 1251864 33 86 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACAGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251864 1251865 1251865 exon 27 0.4285714 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCTGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 587 1141 0.9632713 0.9850908 0.9741811 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.01230908 0.06111682 0.8478604 0.9374681 NA 0.03671295 NA FALSE NA 0.001 -1.682 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/3 1 NA CCG C,T 8.248e-06 19:1251865 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 synonymous_variant 1.870197 0.74173 0.06566 0.542737 0.922099 0 0.04906265 FALSE 4.08423e-06 ENSE00001372048_035 ENSE00001372048 035 19 1251779 1251948 + 59 63 48 G T 1251865 35 87 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCAAGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251865 1251866 1251866 exon 28 0.4444444 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCTTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 842 179 0.9571483 0.9944909 0.9758196 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.006186156 0.07051687 0.8478604 0.9374681 NA 0.03835151 NA FALSE NA 1 8.217 NA NA NA MIDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:1251866 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 missense_variant 4.202529 0.95872 0.96119 0.542737 0.9965594 0 0.04906265 FALSE 8.1692e-06 ENSE00001372048_038 ENSE00001372048 038 19 1251779 1251948 + 59 63 48 C G 1251877 38 99 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGACAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251877 1251878 1251878 exon -24 0.6349206 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTGTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 176 425 1 0.9933498 0.9966749 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.04903783 0.06937572 0.8478604 0.9374681 NA 0.05920677 NA FALSE NA 0.453 0.824 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/3 1 NA TCT C,G 8.249e-06 19:1251878 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 missense_variant 4.196239 0.91659 0.82168 0.542737 0.9968218 0 0.04906265 FALSE 4.09427e-06 ENSE00001372048_041 ENSE00001372048 041 19 1251779 1251948 + 59 63 48 G A 1251882 41 104 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTTTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251882 1251883 1251883 exon -19 0.7142857 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAAAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 502 177 0.9566243 0.9482399 0.9524321 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.00566217 0.02426586 0.8478604 0.9374681 NA 0.01496402 NA FALSE NA 1 2.709 rs187630443 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/3 rs187630443 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGA G,A 7.426e-05 19:1251883 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 synonymous_variant 0.620115 0.92226 0.79275 0.542737 0.9232204 0 0.04906265 FALSE 6.14961e-05 ENSE00001372048_045 ENSE00001372048 045 19 1251779 1251948 + 59 63 48 C T 1251907 45 129 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCGAGATCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251907 1251908 1251908 downstr_intron 7 1.148936 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGATCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 51 45 0.9668047 0.95 0.9584024 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.01584254 0.02602597 0.8478604 0.9374681 NA 0.02093425 NA FALSE NA 0.002 -0.229 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MIDN HGNC 16298 ENST00000591302 2/2 rs202125258 1 NA T:0.0002 T:0 ACC C,T 4.955e-05 19:1251908 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 splice_region_variant 1.001962 0.20278 0.07209 0.096616 0.9213573 0.131577 0.04906265 FALSE 7.04546e-05 ENSE00001372048_046 ENSE00001372048 046 19 1251779 1251948 + 59 63 48 C T 1251910 46 132 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGCAAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251910 1251911 1251911 downstr_intron 10 1.212766 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTTGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 400 510 0.8221244 0.8165692 0.8193468 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.1288378 -0.1074049 0.8478604 0.9374681 NA -0.1181213 NA FALSE NA 0 -1.188 . intron_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/2 1 NA TCG C,T 8.258e-06 19:1251911 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 0.996268 0.20311 0.05231 0.096616 0.9661715 0.143673 0.04906265 FALSE 8.29194e-06 ENSE00001372048_047 ENSE00001372048 047 19 1251779 1251948 + 59 63 48 G A 1251911 47 133 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGCTGGTGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251911 1251912 1251912 downstr_intron 11 1.234043 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCACCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 43 615 0.95 0.9846692 0.9673346 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.0009621732 0.06069521 0.8478604 0.9374681 NA 0.02986652 NA FALSE NA 0 -0.429 . intron_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/2 1 NA CGC G,A 1.652e-05 19:1251912 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 1.011862 0.21715 0.05835 0.096616 0.9533841 0.131235 0.04906265 FALSE 8.30317e-06 ENSE00001372048_050 ENSE00001372048 050 19 1251779 1251948 + 59 63 48 G A 1251915 50 137 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAGGGGTTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251915 1251916 1251916 downstr_intron 15 1.319149 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAACCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 182 669 0.9989295 0.994771 0.9968502 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.04796733 0.07079696 0.8478604 0.9374681 NA 0.05938215 NA FALSE NA 0 -0.007 . intron_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/2 1 NA AGC G,A 1.652e-05 19:1251916 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 0.461545 0.22395 0.18425 0.07321 0.9477955 0.131235 0.04906265 FALSE 1.24741e-05 ENSE00001372048_053 ENSE00001372048 053 19 1251779 1251948 + 59 63 48 C G 1251919 53 141 CCCTGCTCCCAGGGCTGCCCTGTTAGGAACGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251919 1251920 1251920 downstr_intron 19 1.404255 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCGTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 1724 54 0.8536008 0.8847068 0.8691538 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.09736136 -0.03926718 0.8478604 0.9374681 NA -0.06831427 NA FALSE NA 0 -0.701 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:1251920 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 0.072421 0.22245 0.15077 0.07321 0.765533 0.131235 0.04906265 FALSE 8.33618e-06 ENSE00001372048_054 ENSE00001372048 054 19 1251779 1251948 + 59 63 48 C T 1251919 54 141 CCCTGCTCCCAGGGCTGCCCTGTTAGGAAAGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251919 1251920 1251920 downstr_intron 19 1.404255 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCTTTCCTAACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 95 40 0.95 0.95 0.95 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.0009621732 0.02602597 0.8478604 0.9374681 NA 0.0125319 NA FALSE NA 0 -0.701 NA NA NA MIDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MIDN NA NA NA ENSG00000167470 ENSE00003745794 intron_variant 0.219428 0.19892 0.06814 0.07321 0.9520112 0.131235 0.04906265 FALSE 1.25043e-05 ENSE00001372048_055 ENSE00001372048 055 19 1251779 1251948 + 59 63 48 A C 1251925 55 147 CCCTGCTCCCAGGGCTGCCCTGTGAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251925 1251926 1251926 downstr_intron 25 1.531915 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTCACAGGGCAGCCCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 531 177 0.9235385 0.9539327 0.9387356 0.834514 0.8612068 0.9509622 0.923974 NA NA -0.0274237 0.0299587 0.8478604 0.9374681 NA 0.001267498 NA FALSE NA 0 -0.55 . intron_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/2 1 NA TAA A,C 8.267e-06 19:1251926 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant -0.721695 0.11467 0.08632 0.07321 0.5076716 0.131235 0.04906265 FALSE 4.19688e-06 ENSE00001372048_059 ENSE00001372048 059 19 1251779 1251948 + 59 63 48 C T 1251936 59 158 CCCTGCTCCCAGAGCTGCCCTGTTAGGAAGGGGCTGGCGAGGTCTTACCTGCGTCTCCGTGAGACTCTCGAGAGCTTGCATCACGGACTGTTCCGGCCTTGAGGCCTGAGACTACAAAGAGAGGGAGGAGAGGGGCCTGAGTGTGGGGTCGGAATCCTGGGCTGGAATAG 1251779 1251949 1251936 1251937 1251937 downstr_intron 36 1.765957 CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCTCTGGGAGCAGGG CTATTCCAGCCCAGGATTCCGACCCCACACTCAGGCCCCTCTCCTCCCTCTCTTTGTAGTCTCAGGCCTCAAGGCCGGAACAGTCCGTGATGCAAGCTCTCGAGAGTCTCACGGAGACGCAGGTAAGACCTCGCCAGCCCCTTCCTAACAGGGCAGCCCTGGGAGCAGGG mutant NA NA NA NA NA 213 86 0.9681484 0.9687743 0.9684613 0.834514 0.8612068 0.9509622 0.923974 NA NA 0.01718622 0.04480026 0.8478604 0.9374681 NA 0.03099324 NA FALSE NA 0 -0.628 . intron_variant&non_coding_transcript_variant MODIFIER MIDN HGNC 16298 ENST00000591302 2/2 rs565901559 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CCC C,T 1.654e-05 19:1251937 MIDN HGNC Symbol protein_coding 10587 ENSG00000167470 ENSE00003745794 intron_variant 0.112142 0.2093 0.12449 0.07321 0.5479492 0.0611232 0.04906265 FALSE 1.29149e-05 ENSE00001374854_000 ENSE00001374854 000 3 56207432 56207601 - 42 75 53 NA NA NA NA NA CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 NA NA NA NA NA NA GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG natural 104 182 0.9876506 0.9703621 0.9790063 4247 6128 0.9429054 0.9808302 0.9618678 0.9876506 0.9703621 0.9429054 0.9808302 0 0 0 0 0.9790063 0.9618678 0 0 0 FALSE FALSE NA NA NA NA NA ERC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERC2 NA NA NA ENSG00000187672 ENSE00001374854 NA NA NA NA NA NA NA 0.9968565 TRUE NA ENSE00001374854_001 ENSE00001374854 001 3 56207432 56207601 - 42 75 53 T C 56207447 1804 155 CCCAAGGCATAACTGCTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173418 56173419 56173419 downstr_intron 27 1.658537 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAGCAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 200 280 0.9992329 1 0.9996165 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05632747 0.01916979 0.9790063 0.9618678 NA 0.03774863 NA FALSE NA 0.374 0.318 . intron_variant MODIFIER ERC2 HGNC 31922 ENST00000492584 1/11 1 NA GTT T,C 8.261e-06 3:56173419 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 intron_variant 0.746017 0.56033 0.46903 0.078448 0.6424201 0.20573 0.9968565 TRUE 4.06527e-06 ENSE00001374854_003 ENSE00001374854 003 3 56207432 56207601 - 42 75 53 T C 56207449 1806 153 CCCAAGGCATAACTGTTCCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173420 56173421 56173421 downstr_intron 25 1.609756 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGGAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 662 1139 1 0.9929272 0.9964636 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05709456 0.01209702 0.9790063 0.9618678 NA 0.03459579 NA FALSE NA 0.216 1.596 . intron_variant MODIFIER ERC2 HGNC 31922 ENST00000492584 1/11 1 NA TTC T,C 8.26e-06 3:56173421 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 intron_variant 0.79548 0.27436 0.26285 0.078448 0.6728749 0.280183 0.9968565 TRUE 4.06534e-06 ENSE00001374854_004 ENSE00001374854 004 3 56207432 56207601 - 42 75 53 A G 56207455 1807 147 CCCAAGGCATAACTGTTTCTGACGAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173426 56173427 56173427 downstr_intron 19 1.463415 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTCGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 131 180 1 1 1 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05709456 0.01916979 0.9790063 0.9618678 NA 0.03813218 NA FALSE NA 0.999 3.922 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:56173427 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 intron_variant 0.658595 0.98516 0.95902 0.078448 0.6668559 0.935453 0.9968565 TRUE 0.000117906 ENSE00001374854_005 ENSE00001374854 005 3 56207432 56207601 - 42 75 53 A T 56207455 1808 147 CCCAAGGCATAACTGTTTCTGACTAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173426 56173427 56173427 downstr_intron 19 1.463415 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTAGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 1025 1017 1 0.9976071 0.9988036 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05709456 0.01677689 0.9790063 0.9618678 NA 0.03693573 NA FALSE NA 0.999 3.922 NA NA NA ERC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERC2 NA NA NA ENSG00000187672 ENSE00001374854 intron_variant 0.479917 0.9846 0.9801 0.078448 0.7086884 0.935453 0.9968565 TRUE 4.06573e-06 ENSE00001374854_006 ENSE00001374854 006 3 56207432 56207601 - 42 75 53 A G 56207465 1809 137 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACGGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173436 56173437 56173437 downstr_intron 9 1.219512 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACCGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 401 2065 0.9938639 0.9989426 0.9964032 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.0509585 0.01811235 0.9790063 0.9618678 NA 0.03453542 NA FALSE NA 0.718 1.188 . intron_variant MODIFIER ERC2 HGNC 31922 ENST00000492584 1/11 1 NA CAG A,G 8.257e-06 3:56173437 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 intron_variant 0.710857 0.28658 0.69286 0.078448 0.5307665 0.351441 0.9968565 TRUE 4.06577e-06 ENSE00001374854_007 ENSE00001374854 007 3 56207432 56207601 - 42 75 53 T C 56207485 1810 117 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGACGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173456 56173457 56173457 exon -12 0.8533333 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCGTCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 921 2597 0.9769713 0.9995149 0.9882431 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.03406583 0.01868474 0.9790063 0.9618678 NA 0.02637528 NA FALSE NA 1 5.831 . missense_variant MODERATE ERC2 HGNC 31922 ENST00000492584 1/12 1 tolerated(0.06) benign(0.055) NA ATG T,C 8.254e-06 3:56173457 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 missense_variant 1.813613 0.98842 0.93396 0.638212 0.9978695 0 0.9968565 TRUE 4.06445e-06 ENSE00001374854_008 ENSE00001374854 008 3 56207432 56207601 - 42 75 53 C T 56207504 1811 98 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTTGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173475 56173476 56173476 exon -31 0.6 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACAAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 510 1611 0.9954244 0.8370884 0.9162564 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05251899 -0.1437418 0.9790063 0.9618678 NA -0.04561139 NA FALSE NA 0.851 -0.127 . synonymous_variant LOW ERC2 HGNC 31922 ENST00000492584 1/12 COSM1718763&COSM1718762 1 NA TCG C,T 1.651e-05 3:56173476 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 synonymous_variant 1.744853 0.97232 0.57187 0.638212 0.7130646 0 0.9968565 TRUE 2.03211e-05 ENSE00001374854_009 ENSE00001374854 009 3 56207432 56207601 - 42 75 53 G A 56207505 1812 97 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCATCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173476 56173477 56173477 exon -32 0.5866667 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGATGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 506 1274 0.9985268 0.9955122 0.9970195 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05562134 0.014682 0.9790063 0.9618678 NA 0.03515167 NA FALSE NA 1 7.359 . missense_variant MODERATE ERC2 HGNC 31922 ENST00000492584 1/12 COSM1424732&COSM1424733 1 deleterious(0) possibly_damaging(0.681) NA CGT G,A 2.476e-05 3:56173477 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 missense_variant 6.256305 0.9951 0.97941 0.638212 0.9992677 0 0.9968565 TRUE 1.62578e-05 ENSE00001374854_010 ENSE00001374854 010 3 56207432 56207601 - 42 75 53 T C 56207506 1813 96 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGCCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173477 56173478 56173478 exon -33 0.5733333 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGGCGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 479 467 0.9985556 1 0.9992778 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05565011 0.01916979 0.9790063 0.9618678 NA 0.03740995 NA FALSE NA 1 7.555 . missense_variant MODERATE ERC2 HGNC 31922 ENST00000492584 1/12 1 deleterious(0.04) benign(0.092) NA GTC T,C 2.476e-05 3:56173478 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 missense_variant 3.150598 0.99327 0.97669 0.638212 0.998064 0 0.9968565 TRUE 2.43847e-05 ENSE00001374854_011 ENSE00001374854 011 3 56207432 56207601 - 42 75 53 C T 56207516 1814 86 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGTTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173487 56173488 56173488 exon 33 0.44 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAACCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 2203 441 0.9966526 1 0.9983263 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05374717 0.01916979 0.9790063 0.9618678 NA 0.03645848 NA FALSE NA 0.998 0.474 . synonymous_variant LOW ERC2 HGNC 31922 ENST00000492584 1/12 1 NA GCT C,T 8.255e-06 3:56173488 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 synonymous_variant 1.339158 0.97641 0.72076 0.638212 0.6412903 0 0.9968565 TRUE 4.06438e-06 ENSE00001374854_012 ENSE00001374854 012 3 56207432 56207601 - 42 75 53 C T 56207519 1815 83 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCTGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173490 56173491 56173491 exon 30 0.4 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCAGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 752 84 0.9949735 0.9962156 0.9955946 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05206808 0.01538543 0.9790063 0.9618678 NA 0.03372675 NA FALSE NA 0.051 -0.586 . synonymous_variant LOW ERC2 HGNC 31922 ENST00000492584 1/12 rs559591672 1 T:0.0004 T:0 T:0 NA T:0 T:0.001 T:0.001 CCG C,T 3.302e-05 3:56173491 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 synonymous_variant 1.882041 0.57438 0.06538 0.638212 0.827137 0 0.9968565 TRUE 5.28395e-05 ENSE00001374854_013 ENSE00001374854 013 3 56207432 56207601 - 42 75 53 G A 56207520 1816 82 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCAGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173491 56173492 56173492 exon 29 0.3866667 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCTGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 477 377 0.9917392 0.9760812 0.9839102 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.04883379 -0.004748963 0.9790063 0.9618678 NA 0.02204241 NA FALSE NA 1 4.299 . missense_variant MODERATE ERC2 HGNC 31922 ENST00000492584 1/12 1 deleterious(0.01) benign(0.358) NA CGG G,A 4.953e-05 3:56173492 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 missense_variant 4.905948 0.99158 0.95954 0.638212 0.99832 0 0.9968565 TRUE 4.87809e-05 ENSE00001374854_014 ENSE00001374854 014 3 56207432 56207601 - 42 75 53 T A 56207523 1817 79 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCAGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173494 56173495 56173495 exon 26 0.3466667 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCTGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 620 341 0.8995108 1 0.9497554 0.9876506 0.9703621 0.9429054 0.9808302 NA NA -0.04339465 0.01916979 0.9790063 0.9618678 NA -0.01211243 NA FALSE NA 1 4.41 . missense_variant MODERATE ERC2 HGNC 31922 ENST00000492584 1/12 1 tolerated(0.09) benign(0.069) NA CTG T,A 8.255e-06 3:56173495 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 missense_variant 2.57509 0.99263 0.95259 0.638212 0.9780913 0 0.9968565 TRUE 4.06464e-06 ENSE00001374854_015 ENSE00001374854 015 3 56207432 56207601 - 42 75 53 A G 56207545 1818 57 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAGTTCCTGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173516 56173517 56173517 exon 4 0.05333333 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAACTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 422 495 0.9930273 0.9889027 0.990965 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05012184 0.00807253 0.9790063 0.9618678 NA 0.02909718 NA FALSE NA 1 0.874 . upstream_gene_variant MODIFIER ERC2 HGNC 31922 ENST00000492584 rs201790802 1 G:0.0010 G:0.0038 G:0 NA G:0 G:0 G:0 G:0.005 G:0 AAT A,G 0.0004707 3:56173517 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 synonymous_variant 0.289758 0.97366 0.43802 0.638212 0.6294772 0 0.9968565 TRUE 0.000410579 ENSE00001374854_017 ENSE00001374854 017 3 56207432 56207601 - 42 75 53 G A 56207563 1820 39 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACAATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173534 56173535 56173535 upstr_intron -15 -0.2641509 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATTGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 526 1291 0.9884562 0.98042 0.9844381 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.04555079 -0.000410219 0.9790063 0.9618678 NA 0.02257028 NA FALSE NA 1 9.262 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:56173535 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 non_coding_transcript_exon_variant 2.465375 0.99476 0.9869 0.053691 0.8571686 0.988127 0.9968565 TRUE 4.06815e-06 ENSE00001374854_018 ENSE00001374854 018 3 56207432 56207601 - 42 75 53 G T 56207563 1821 39 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACTATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173534 56173535 56173535 upstr_intron -15 -0.2641509 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATAGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 593 2155 1 0.9990358 0.9995179 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05709456 0.01820557 0.9790063 0.9618678 NA 0.03765006 NA FALSE NA 1 9.262 NA NA NA ERC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERC2 NA NA NA ENSG00000187672 ENSE00001374854 non_coding_transcript_exon_variant 2.180193 0.99496 0.98862 0.053691 0.8645621 0.988127 0.9968565 TRUE 4.06815e-06 ENSE00001374854_019 ENSE00001374854 019 3 56207432 56207601 - 42 75 53 T C 56207565 1822 37 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGACAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173536 56173537 56173537 upstr_intron -17 -0.3018868 GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTGTCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 544 1047 0.9962488 0.9945568 0.9954028 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05334334 0.01372657 0.9790063 0.9618678 NA 0.03353495 NA FALSE NA 1 4.733 . upstream_gene_variant MODIFIER ERC2 HGNC 31922 ENST00000492584 rs370966696 1 NA C:0 C:0.0001 ATA T,C 8.258e-06 3:56173537 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 non_coding_transcript_exon_variant 2.070495 0.98419 0.93268 0.053691 0.8045878 0.898289 0.9968565 TRUE 4.06709e-06 ENSE00001374854_020 ENSE00001374854 020 3 56207432 56207601 - 42 75 53 C T 56207576 1823 26 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCTTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173547 56173548 56173548 upstr_intron -28 -0.509434 GGTGTAACGGAAGGATGAACCGTCAAGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 140 1406 1 0.9926172 0.9963086 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05709456 0.01178696 0.9790063 0.9618678 NA 0.03444076 NA FALSE NA 1 2.007 . upstream_gene_variant MODIFIER ERC2 HGNC 31922 ENST00000492584 1 NA CCT C,T 0.0001486 3:56173548 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 non_coding_transcript_exon_variant 2.436253 0.97762 0.76218 0.053691 0.8222169 0.913667 0.9968565 TRUE 0.000142652 ENSE00001374854_021 ENSE00001374854 021 3 56207432 56207601 - 42 75 53 T C 56207577 1824 25 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCCGACGGTTCATCCTTCCGTTACACC 56173403 56173573 56173548 56173549 56173549 upstr_intron -29 -0.5283019 GGTGTAACGGAAGGATGAACCGTCGGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 657 660 0.9964827 0.9995868 0.9980347 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05357721 0.01875661 0.9790063 0.9618678 NA 0.03616691 NA FALSE NA 1 4.741 . upstream_gene_variant MODIFIER ERC2 HGNC 31922 ENST00000492584 1 NA CTG T,C 8.258e-06 3:56173549 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 non_coding_transcript_exon_variant 2.413025 0.98776 0.91937 0.053691 0.7873056 0.974614 0.9968565 TRUE NA ENSE00001374854_023 ENSE00001374854 023 3 56207432 56207601 - 42 75 53 G A 56207581 1826 21 CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTACCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCCTGGGGAGGAACACGATAGAAATAAGCCTGACAGTTCATCCTTCCGTTACACC 56173403 56173573 56173552 56173553 56173553 upstr_intron -33 -0.6037736 GGTGTAACGGAAGGATGAACTGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG mutant NA NA NA NA NA 255 769 1 1 1 0.9876506 0.9703621 0.9429054 0.9808302 NA NA 0.05709456 0.01916979 0.9790063 0.9618678 NA 0.03813218 NA FALSE NA 1 7.301 . upstream_gene_variant MODIFIER ERC2 HGNC 31922 ENST00000492584 rs375518818 1 NA A:0.0002 A:0 CGG G,A 1.651e-05 3:56173553 ERC2 HGNC Symbol protein_coding 960055 ENSG00000187672 ENSE00001374854 non_coding_transcript_exon_variant 2.649944 0.99476 0.97947 0.053691 0.8623573 0.983916 0.9968565 TRUE 1.22473e-05 ENSE00001374854_BRK ENSE00001374854 BRK 3 56207432 56207601 - 42 75 53 A,G; T,T NA NA NA CCCAAGGCATAACTGTTTCTGACAAAAGTGCACAGTTCCTGGCTTCATTTCGATGACAGTCTGGAGAGCCTTCGTCTTGGCTGGCTCCGGCTGAAGTTGGCTTCTTCGGTGCAATTCAAGGGGAGGAACACGATAGAAATAAGCCTGACGGTTCATCCTTCCGTTACACC 56173403 56173573 NA NA NA NA NA NA GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCTTGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGCCAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG GGTGTAACGGAAGGATGAACCGTCAGGCTTATTTCTATCGTGTTCCTCCCCAGGAATTGCACCGAAGAAGCCAACTTCAGCCGGAGCCAGCCAAGACGAAGGCTCTCCAGACTGTCATCGAAATGAAGGTAGGAACTGTGCACTTTTGTCAGAAACAGTTATGCCTTGGG control 347 55 0 0 0 NA NA NA NA NA 0.9876506 0.9703621 0.9429054 0.9808302 -0.9876506 -0.9703621 NA NA 0.9790063 0.9618678 -0.9790063 NA NA NA TRUE NA NA NA NA NA ERC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERC2 NA NA NA ENSG00000187672 ENSE00001374854 NA NA NA NA NA NA NA 0.9968565 TRUE NA ENSE00001375017_000 ENSE00001375017 000 4 109790196 109790365 - 48 63 59 NA NA NA NA NA ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 NA NA NA NA NA NA ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT natural NA NA NA NA NA 3005 4110 0.960183 0.9469531 0.953568 NA NA 0.960183 0.9469531 NA NA 0 0 NA 0.953568 NA 0 NA FALSE NA NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001375017 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001375017_001 ENSE00001375017 001 4 109790196 109790365 - 48 63 59 A C 109790217 1228 149 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTGTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869060 108869061 108869061 downstr_intron 27 1.574468 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTGTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 1006 691 0.997474 1 0.998737 NA NA 0.960183 0.9469531 NA NA 0.03729101 0.05304692 NA 0.953568 NA 0.04516897 NA FALSE NA 0.001 0.02 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 19/32 1 NA AAA A,C 8.278e-06 4:108869061 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 intron_variant -0.119096 0.35468 0.0833 0.053691 0.6742747 0.0436289 7.11572e-08 FALSE 1.38244e-05 ENSE00001375017_004 ENSE00001375017 004 4 109790196 109790365 - 48 63 59 G A 109790231 1231 135 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTTTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869074 108869075 108869075 downstr_intron 13 1.276596 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTTTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 1082 145 1 1 1 NA NA 0.960183 0.9469531 NA NA 0.039817 0.05304692 NA 0.953568 NA 0.04643196 NA FALSE NA 0 -0.758 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 19/32 rs572134893 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGA G,A 1.656e-05 4:108869075 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 intron_variant -0.241247 0.06415 0.0018 0.053691 0.2250787 0.0443366 7.11572e-08 FALSE 9.25814e-06 ENSE00001375017_005 ENSE00001375017 005 4 109790196 109790365 - 48 63 59 C T 109790236 1232 130 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGAGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869079 108869080 108869080 downstr_intron 8 1.170213 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGAGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 56 559 1 0.9991788 0.9995894 NA NA 0.960183 0.9469531 NA NA 0.039817 0.05222575 NA 0.953568 NA 0.04602138 NA FALSE NA 0 -1.635 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 19/32 1 NA CCC C,T 2.484e-05 4:108869080 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 splice_region_variant 0.278936 0.16005 0.00901 0.053691 0.4862662 0.0833694 7.11572e-08 FALSE 3.28561e-05 ENSE00001375017_008 ENSE00001375017 008 4 109790196 109790365 - 48 63 59 T C 109790262 1235 104 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCGGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869105 108869106 108869106 exon -19 0.7142857 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCGGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 942 2229 0.9609458 0.7965759 0.8787608 NA NA 0.960183 0.9469531 NA NA 0.0007627671 -0.1503771 NA 0.953568 NA -0.07480719 NA FALSE NA 1 0.558 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 19/33 rs376584601 1 NA C:0.0003 C:0 CTG T,C 8.279e-06 4:108869106 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 synonymous_variant 0.171252 0.96598 0.76277 0.516011 0.5118607 0 7.11572e-08 FALSE NA ENSE00001375017_009 ENSE00001375017 009 4 109790196 109790365 - 48 63 59 A T 109790267 1236 99 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCATACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869110 108869111 108869111 exon -24 0.6349206 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCATACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 836 41 0.998414 1 0.999207 NA NA 0.960183 0.9469531 NA NA 0.03823102 0.05304692 NA 0.953568 NA 0.04563897 NA FALSE NA 1 2.666 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 19/33 rs557914136 1 benign(0.273) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 AAG A,T 8.279e-06 4:108869111 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 missense_variant 3.692535 0.9722 0.87735 0.516011 0.9845326 0 7.11572e-08 FALSE 4.95103e-06 ENSE00001375017_010 ENSE00001375017 010 4 109790196 109790365 - 48 63 59 T C 109790281 1237 85 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCGAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869124 108869125 108869125 exon 26 0.4126984 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCGAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 1132 698 0.9336005 0.9971691 0.9653848 NA NA 0.960183 0.9469531 NA NA -0.02658248 0.05021599 NA 0.953568 NA 0.01181676 NA FALSE NA 1 6.323 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 19/33 1 benign(0.029) NA TTG T,C 8.279e-06 4:108869125 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 missense_variant 4.008035 0.98569 0.95972 0.516011 0.9973885 0 7.11572e-08 FALSE NA ENSE00001375017_011 ENSE00001375017 011 4 109790196 109790365 - 48 63 59 A G 109790290 1238 76 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCACTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869133 108869134 108869134 exon 17 0.2698413 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCACTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 371 371 0.8 0.8 0.8 NA NA 0.960183 0.9469531 NA NA -0.160183 -0.1469531 NA 0.953568 NA -0.153568 NA FALSE NA 1 5.631 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 19/33 rs200894764 1 possibly_damaging(0.573) NA G:0.0003 G:0.0001 AAT A,G 5.795e-05 4:108869134 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 missense_variant 4.66108 0.9862 0.96238 0.516011 0.995882 0 7.11572e-08 FALSE 3.6384e-05 ENSE00001375017_013 ENSE00001375017 013 4 109790196 109790365 - 48 63 59 T C 109790298 1240 68 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCGGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869141 108869142 108869142 exon 9 0.1428571 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCGGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 942 1746 0.998689 0.998162 0.9984255 NA NA 0.960183 0.9469531 NA NA 0.03850601 0.05120888 NA 0.953568 NA 0.04485744 NA FALSE NA 1 0.537 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 19/33 1 NA CTG T,C 8.279e-06 4:108869142 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 synonymous_variant 0.59887 0.97772 0.8037 0.516011 0.7961413 0 7.11572e-08 FALSE NA ENSE00001375017_015 ENSE00001375017 015 4 109790196 109790365 - 48 63 59 T G 109790309 1242 57 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTACAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869152 108869153 108869153 upstr_intron -3 -0.03389831 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTACAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 1332 1132 0.998553 0.998297 0.998425 NA NA 0.960183 0.9469531 NA NA 0.03837005 0.05134389 NA 0.953568 NA 0.04485697 NA FALSE NA 0.999 2.61 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 18/32 1 NA TTT T,G 8.279e-06 4:108869153 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 splice_region_variant 1.765849 0.97824 0.90946 0.053691 0.907506 0.320572 7.11572e-08 FALSE 5.34559e-06 ENSE00001375017_018 ENSE00001375017 018 4 109790196 109790365 - 48 63 59 G C 109790327 1245 39 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTGATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869170 108869171 108869171 upstr_intron -21 -0.3389831 ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTGATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 1905 329 0.9960454 0.993749 0.9948972 NA NA 0.960183 0.9469531 NA NA 0.03586239 0.04679589 NA 0.953568 NA 0.04132914 NA FALSE NA 0 -0.413 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 18/32 1 NA TGA G,C 8.28e-06 4:108869171 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 intron_variant -0.096655 0.14981 0.05423 0.053691 0.6095123 0.0760465 7.11572e-08 FALSE 1.15268e-05 ENSE00001375017_019 ENSE00001375017 019 4 109790196 109790365 - 48 63 59 A T 109790330 1246 36 ATTTATTTATTTATTTATTGTCAAATGATTAATGAACTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869173 108869174 108869174 upstr_intron -24 -0.3898305 ATTTATTTATTTATTTATTGTCAAATGATTAATGAACTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 352 434 1 1 1 NA NA 0.960183 0.9469531 NA NA 0.039817 0.05304692 NA 0.953568 NA 0.04643196 NA FALSE NA 0.034 1.081 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 18/32 1 NA GAT A,T 8.281e-06 4:108869174 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 intron_variant 0.097058 0.27297 0.22603 0.053691 0.7802226 0.0776666 7.11572e-08 FALSE NA ENSE00001375017_020 ENSE00001375017 020 4 109790196 109790365 - 48 63 59 C G 109790332 1247 34 ATTTATTTATTTATTTATTGTCAAATGATTAATCATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869175 108869176 108869176 upstr_intron -26 -0.4237288 ATTTATTTATTTATTTATTGTCAAATGATTAATCATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 667 65 0.9993193 1 0.9996597 NA NA 0.960183 0.9469531 NA NA 0.03913633 0.05304692 NA 0.953568 NA 0.04609162 NA FALSE NA 0 -1.233 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 18/32 1 NA TCA C,G 8.281e-06 4:108869176 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 intron_variant -0.347717 0.0955 0.07747 0.053691 0.4556397 0.0414635 7.11572e-08 FALSE 6.0729e-06 ENSE00001375017_021 ENSE00001375017 021 4 109790196 109790365 - 48 63 59 A G 109790336 1248 30 ATTTATTTATTTATTTATTGTCAAATGATCAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 108869179 108869180 108869180 upstr_intron -30 -0.4915254 ATTTATTTATTTATTTATTGTCAAATGATCAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT mutant NA NA NA NA NA 247 1869 0.9847479 0.9941164 0.9894321 NA NA 0.960183 0.9469531 NA NA 0.02456488 0.04716327 NA 0.953568 NA 0.03586407 NA FALSE NA 0.243 1.525 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 18/32 1 NA TAA A,G 3.313e-05 4:108869180 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001375017 intron_variant 0.062696 0.19563 0.62689 0.053691 0.5116447 0.0414635 7.11572e-08 FALSE 2.48268e-05 ENSE00001375017_BRK ENSE00001375017 BRK 4 109790196 109790365 - 48 63 59 A,G; T,T NA NA NA ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAATTGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAACCAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT 108869039 108869209 NA NA NA NA NA NA ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAATTGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAACCAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT ATTTATTTATTTATTTATTGTCAAATGATTAATGATCTCATATGCCCATGTTTTTAAAGGGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACAAAAGTAAGTGGGCCTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCT control 17 37 0 0 0 2296 254 0.002625734 0.1781371 0.09038141 NA NA 0.960183 0.9469531 NA NA -0.9575573 -0.768816 NA 0.953568 NA -0.8631866 NA TRUE NA NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001375017 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001375367_000 ENSE00001375367 000 10 71697341 71697510 + 50 81 39 NA NA NA NA NA CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 NA NA NA NA NA NA TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG natural 13 30 0.9859848 0.9770834 0.9815341 315 1169 0.8579198 0.9838741 0.9208969 0.9859848 0.9770834 0.8579198 0.9838741 0 0 0 0 0.9815341 0.9208969 0 0 0 FALSE FALSE NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00003680179 NA NA NA NA NA NA NA 0.003928968 FALSE NA ENSE00001375367_001 ENSE00001375367 001 10 71697341 71697510 + 50 81 39 C T 71697368 1427 28 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACAAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937611 69937612 69937612 upstr_intron -23 -0.44 TGTCTGGGACATGTCCTTGTGTGATCTTGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 47 19 1 1 1 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1420802 0.01612592 0.9815341 0.9208969 NA 0.07910307 NA FALSE NA 0.002 0.302 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 30/36 1 NA TCG C,T 8.275e-06 10:69937612 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 intron_variant 0.204445 0.20219 0.02257 0.106106 0.6362391 0.145685 0.003928968 FALSE 8.26795e-06 ENSE00001375367_006 ENSE00001375367 006 10 71697341 71697510 + 50 81 39 C T 71697388 1432 48 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTAGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937631 69937632 69937632 upstr_intron -3 -0.04 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCTAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 123 134 0.9966054 1 0.9983027 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1386856 0.01612592 0.9815341 0.9208969 NA 0.07740576 NA FALSE NA 1 2.546 rs181488392 splice_region_variant&intron_variant LOW COL13A1 HGNC 2190 ENST00000517713 30/36 rs181488392 1 T:0.0100 T:0.0023 T:0.0058 NA T:0.001 T:0.002 T:0.0409 T:0.0016 T:0.0014 CCA C,T 0.006157 10:69937632 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 splice_region_variant 2.04474 0.97198 0.71834 0.106106 0.8784518 0.529253 0.003928968 FALSE 0.00573625 ENSE00001375367_009 ENSE00001375367 009 10 71697341 71697510 + 50 81 39 G A 71697435 1435 95 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCCTTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937678 69937679 69937679 exon -37 0.5555556 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAAGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 91 457 1 1 1 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1420802 0.01612592 0.9815341 0.9208969 NA 0.07910307 NA FALSE NA 1 2.448 rs185747839 synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 31/37 rs185747839 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGG G,A 8.276e-06 10:69937679 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 synonymous_variant 0.42251 0.97295 0.84365 0.732398 0.5849125 0 0.003928968 FALSE 4.06312e-06 ENSE00001375367_010 ENSE00001375367 010 10 71697341 71697510 + 50 81 39 G T 71697436 1436 96 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCACTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937679 69937680 69937680 exon -36 0.5679012 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGTGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 41 21 1 1 1 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1420802 0.01612592 0.9815341 0.9208969 NA 0.07910307 NA FALSE NA 1 7.488 . stop_gained HIGH COL13A1 HGNC 2190 ENST00000517713 31/37 1 NA HC GGG G,T 8.276e-06 10:69937680 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 stop_gained 15.09433 0.99216 0.97656 0.732398 0.9936705 0 0.003928968 FALSE 4.06349e-06 ENSE00001375367_011 ENSE00001375367 011 10 71697341 71697510 + 50 81 39 A T 71697443 1437 103 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACGGTCTCCTATTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937686 69937687 69937687 exon -29 0.654321 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAATAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 271 1744 0.6414068 0.8006417 0.7210243 0.9859848 0.9770834 0.8579198 0.9838741 NA NA -0.216513 -0.1832323 0.9815341 0.9208969 NA -0.1998727 NA FALSE NA 1 7.1 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 31/37 rs201675818 1 deleterious(0.01) unknown(0) T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 T:0 T:0.0001 AAA A,T 0.00048 10:69937687 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 missense_variant 4.85408 0.98959 0.97016 0.732398 0.9830366 0 0.003928968 FALSE 0.000524066 ENSE00001375367_012 ENSE00001375367 012 10 71697341 71697510 + 50 81 39 C T 71697450 1438 110 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACGATCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937693 69937694 69937694 exon -22 0.7407407 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGATCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 78 391 0.9929327 0.9941474 0.9935401 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1350129 0.01027332 0.9815341 0.9208969 NA 0.07264313 NA FALSE NA 1 3.317 . synonymous_variant LOW COL13A1 HGNC 2190 ENST00000517713 31/37 1 NA ACC C,T 8.276e-06 10:69937694 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 synonymous_variant 1.691351 0.97705 0.85725 0.732398 0.5603459 0 0.003928968 FALSE 4.06326e-06 ENSE00001375367_013 ENSE00001375367 013 10 71697341 71697510 + 50 81 39 C T 71697451 1439 111 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACAGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937694 69937695 69937695 exon -21 0.7530864 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACTGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 176 181 0.9348125 0.9328789 0.9338457 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.07689276 -0.05099521 0.9815341 0.9208969 NA 0.01294878 NA FALSE NA 1 2.272 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 31/37 1 deleterious(0) unknown(0) NA CCG C,T 1.655e-05 10:69937695 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 missense_variant 6.30901 0.97846 0.78834 0.732398 0.9746536 0 0.003928968 FALSE 1.62534e-05 ENSE00001375367_014 ENSE00001375367 014 10 71697341 71697510 + 50 81 39 G A 71697452 1440 112 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCATGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937695 69937696 69937696 exon -20 0.7654321 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCATGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 121 118 0.9650694 1 0.9825347 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1071496 0.01612592 0.9815341 0.9208969 NA 0.06163778 NA FALSE NA 1 5.785 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 31/37 1 deleterious(0.01) unknown(0) NA CGT G,A 4.966e-05 10:69937696 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 missense_variant 6.164119 0.98632 0.94154 0.732398 0.9820216 0 0.003928968 FALSE 7.31463e-05 ENSE00001375367_015 ENSE00001375367 015 10 71697341 71697510 + 50 81 39 G A 71697464 1441 124 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACGGGTAGTTCCAGGGGACCACGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937707 69937708 69937708 exon -8 0.9135802 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGAACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 410 307 1 1 1 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1420802 0.01612592 0.9815341 0.9208969 NA 0.07910307 NA FALSE NA 1 7.488 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 31/37 1 deleterious(0) unknown(0) NA GGA G,A 8.276e-06 10:69937708 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 missense_variant 5.158622 0.99193 0.97289 0.732398 0.9740521 0 0.003928968 FALSE 8.13041e-06 ENSE00001375367_017 ENSE00001375367 017 10 71697341 71697510 + 50 81 39 C T 71697471 1443 131 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACAGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937714 69937715 69937715 exon -1 1 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCTGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 96 998 0.9705382 0.9818048 0.9761715 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1126185 -0.002069321 0.9815341 0.9208969 NA 0.05527456 NA FALSE NA 0.981 -0.036 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:69937715 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 splice_region_variant 0.963786 0.83687 0.31373 0.732398 0.5600141 0 0.003928968 FALSE 0.000431624 ENSE00001375367_018 ENSE00001375367 018 10 71697341 71697510 + 50 81 39 C A 71697471 1444 131 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTACTGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937714 69937715 69937715 exon -1 1 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCAGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 311 70 0.981732 0.9060104 0.9438712 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1238122 -0.07786367 0.9815341 0.9208969 NA 0.02297428 NA FALSE NA 0.981 -0.036 NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00003680179 splice_region_variant 1.080371 0.85344 0.54464 0.732398 0.5504648 0 0.003928968 FALSE NA ENSE00001375367_019 ENSE00001375367 019 10 71697341 71697510 + 50 81 39 G A 71697472 1445 132 CATCAAACCCACCAGTCTTGCTGGGTCCAAGGTACTTATGGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937715 69937716 69937716 downstr_intron 1 1.026316 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCATAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 100 128 0 0.05973566 0.02986783 0.9859848 0.9770834 0.8579198 0.9838741 NA NA -0.8579198 -0.9241384 0.9815341 0.9208969 NA -0.8910291 NA TRUE NA 1 7.488 . splice_donor_variant HIGH COL13A1 HGNC 2190 ENST00000517713 31/36 rs377506818 1 NA HC CGT G,A 8.277e-06 10:69937716 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 splice_donor_variant 5.235813 0.99193 0.97289 0.106106 0.995491 0.986082 0.003928968 FALSE 8.14458e-06 ENSE00001375367_022 ENSE00001375367 022 10 71697341 71697510 + 50 81 39 A G 71697492 1448 152 CATCAAACCCACCAGTCTCGCTGGGTCCAAGGTACTTACGGGTAGTCCCAGGGGACCACGGTCTCCTTTTTCTCCCTGGAAGCCTTTCTCTCCTTTTGCTCCATCTAGTCCTGCTTCCCCCTGGAGGAAAGGGAGAGGGGACGAGATCACACAAGGACATGTCCCAGACA 69937584 69937754 69937735 69937736 69937736 downstr_intron 21 1.552632 TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCGAGACTGGTGGGTTTGATG TGTCTGGGACATGTCCTTGTGTGATCTCGTCCCCTCTCCCTTTCCTCCAGGGGGAAGCAGGACTAGATGGAGCAAAAGGAGAGAAAGGCTTCCAGGGAGAAAAAGGAGACCGTGGTCCCCTGGGACTACCCGTAAGTACCTTGGACCCAGCAAGACTGGTGGGTTTGATG mutant NA NA NA NA NA 92 252 1 0.9925712 0.9962856 0.9859848 0.9770834 0.8579198 0.9838741 NA NA 0.1420802 0.008697099 0.9815341 0.9208969 NA 0.07538866 NA FALSE NA 0 0.096 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 31/36 1 NA CAA A,G 1.655e-05 10:69937736 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00003680179 intron_variant 0.237712 0.1618 0.01823 0.088506 0.576386 0.116906 0.003928968 FALSE 8.25839e-06 ENSE00001376061_000 ENSE00001376061 000 10 21108320 21108489 - 33 93 44 NA NA NA NA NA TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 NA NA NA NA NA NA TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC natural 402 654 0.8448183 0.845352 0.8450851 5690 4168 0.6031132 0.6703608 0.636737 0.8448183 0.845352 0.6031132 0.6703608 0 0 0 0 0.8450851 0.636737 0 0 0 FALSE FALSE NA NA NA NA NA NEBL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEBL NA NA NA ENSG00000078114 ENSE00003654874 NA NA NA NA NA NA NA 5.769838e-24 FALSE NA ENSE00001376061_001 ENSE00001376061 001 10 21108320 21108489 - 33 93 44 A G 21108333 479 157 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCCTTTATATTTTCTC 20819390 20819560 20819403 20819404 20819404 downstr_intron 20 1.625 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCCTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 24 40 0 0 0 NA NA NA NA NA 0.8448183 0.845352 0.6031132 0.6703608 -0.8448183 -0.845352 NA NA 0.8450851 0.636737 -0.8450851 NA NA NA TRUE 0 0.612 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs537585943 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAG A,G 8.236e-06 10:20819404 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 non_coding_transcript_exon_variant 0.000249 0.2231 0.06956 0.053691 0.4067593 0.161125 5.769838e-24 FALSE 4.06633e-06 ENSE00001376061_002 ENSE00001376061 002 10 21108320 21108489 - 33 93 44 C G 21108345 480 145 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCCTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819415 20819416 20819416 downstr_intron 8 1.25 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCCTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 107 48 0.85 0.85 0.85 7059 1751 0.8003729 0.8226761 0.8115245 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 0.1972598 0.1523153 0.8450851 0.636737 0.004914882 0.1747876 0.1698727 FALSE FALSE 0 -1.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:20819416 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 splice_region_variant 1.310742 0.19651 0.0314 0.053691 0.7606467 0.398445 5.769838e-24 FALSE 8.13041e-06 ENSE00001376061_003 ENSE00001376061 003 10 21108320 21108489 - 33 93 44 C T 21108345 481 145 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCATTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819415 20819416 20819416 downstr_intron 8 1.25 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCATTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 93 55 0.8321136 0.85 0.8410568 NA NA NA NA NA 0.8448183 0.845352 0.6031132 0.6703608 -0.01270465 0.004648039 NA NA 0.8450851 0.636737 -0.004028303 NA NA NA FALSE 0 -1.2 NA NA NA NEBL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEBL NA NA NA ENSG00000078114 ENSE00003654874 splice_region_variant 1.568517 0.21791 0.04613 0.053691 0.8087384 0.398445 5.769838e-24 FALSE 3.65869e-05 ENSE00001376061_005 ENSE00001376061 005 10 21108320 21108489 - 33 93 44 C T 21108353 483 137 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCAGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819423 20819424 20819424 exon -1 1 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCAGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 247 364 0 0.003577139 0.00178857 2601 2315 0.007491934 0.01245487 0.009973405 0.8448183 0.845352 0.6031132 0.6703608 -0.8448183 -0.8417748 -0.5956212 -0.6579059 0.8450851 0.636737 -0.8432965 -0.6267636 0.216533 TRUE TRUE 0.936 2.928 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA CCG C,T 0.0001318 10:20819424 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 splice_region_variant 2.184022 0.98771 0.96457 0.554377 0.8839983 0 5.769838e-24 FALSE 0.000105685 ENSE00001376061_006 ENSE00001376061 006 10 21108320 21108489 - 33 93 44 G A 21108354 484 136 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGTGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819424 20819425 20819425 exon -2 0.9892473 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGTGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 45 70 0.02893761 0 0.0144688 1058 718 0.005515777 0.002299654 0.003907715 0.8448183 0.845352 0.6031132 0.6703608 -0.8158807 -0.845352 -0.5975974 -0.6680611 0.8450851 0.636737 -0.8306163 -0.6328293 0.1977871 TRUE TRUE 0 -0.123 rs146218038 upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs146218038 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0016 A:0 CGC G,A 0.0003047 10:20819425 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 1.408376 0.23631 0.0335 0.554377 0.9409747 0 5.769838e-24 FALSE 0.000300798 ENSE00001376061_007 ENSE00001376061 007 10 21108320 21108489 - 33 93 44 C T 21108357 485 133 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAATGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819427 20819428 20819428 exon -5 0.9569892 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAATGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 58 28 0.7600099 0.8805247 0.8202673 3953 716 0.8790393 0.9014567 0.890248 0.8448183 0.845352 0.6031132 0.6703608 -0.08480841 0.03517279 0.2759262 0.2310959 0.8450851 0.636737 -0.02481781 0.253511 0.2783288 FALSE FALSE 1 4.837 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs201497107 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACT C,T 8.236e-06 10:20819428 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 4.934226 0.99378 0.98618 0.554377 0.9957756 0 5.769838e-24 FALSE 4.06438e-06 ENSE00001376061_008 ENSE00001376061 008 10 21108320 21108489 - 33 93 44 C T 21108365 486 125 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAACAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819435 20819436 20819436 exon -13 0.8709677 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAACAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 22 17 0 0 0 1898 1804 0.1571186 0.1406944 0.1489065 0.8448183 0.845352 0.6031132 0.6703608 -0.8448183 -0.845352 -0.4459946 -0.5296664 0.8450851 0.636737 -0.8450851 -0.4878305 0.3572546 FALSE TRUE 0.58 0.386 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA GCT C,T 1.647e-05 10:20819436 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 synonymous_variant 2.05466 0.9803 0.68296 0.554377 0.6219151 0 5.769838e-24 FALSE 1.62569e-05 ENSE00001376061_009 ENSE00001376061 009 10 21108320 21108489 - 33 93 44 C T 21108375 487 115 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCAAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819445 20819446 20819446 exon -23 0.7634409 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCAAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 38 119 0 0 0 2287 1084 0.003382864 0.03100594 0.0171944 0.8448183 0.845352 0.6031132 0.6703608 -0.8448183 -0.845352 -0.5997303 -0.6393549 0.8450851 0.636737 -0.8450851 -0.6195426 0.2255425 TRUE TRUE 0 -0.268 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 COSM3436477 1 NA TCG C,T 8.236e-05 10:20819446 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 3.43263 0.30288 0.06113 0.554377 0.9942736 0 5.769838e-24 FALSE 7.31452e-05 ENSE00001376061_010 ENSE00001376061 010 10 21108320 21108489 - 33 93 44 G T 21108376 488 114 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGAGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819446 20819447 20819447 exon -24 0.7526882 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGAGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 84 64 0.85 0.85 0.85 132 1698 0.8222098 0.777728 0.7999689 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 0.2190967 0.1073672 0.8450851 0.636737 0.004914882 0.163232 0.1583171 FALSE FALSE 0 0.981 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:20819447 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 synonymous_variant 1.312988 0.20584 0.00402 0.554377 0.6318202 0 5.769838e-24 FALSE 8.12757e-06 ENSE00001376061_011 ENSE00001376061 011 10 21108320 21108489 - 33 93 44 G A 21108376 489 114 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGTGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819446 20819447 20819447 exon -24 0.7526882 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGTGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 270 86 0.01455681 0.1019068 0.05823181 918 2296 0.09266757 0.03560265 0.06413511 0.8448183 0.845352 0.6031132 0.6703608 -0.8302615 -0.7434451 -0.5104456 -0.6347582 0.8450851 0.636737 -0.7868533 -0.5726019 0.2142514 TRUE TRUE 0 0.981 NA NA NA NEBL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEBL NA NA NA ENSG00000078114 ENSE00003654874 stop_gained 9.614414 0.41469 0.20164 0.554377 0.9953841 0 5.769838e-24 FALSE 4.06379e-06 ENSE00001376061_012 ENSE00001376061 012 10 21108320 21108489 - 33 93 44 C T 21108377 490 113 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGACGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819447 20819448 20819448 exon -25 0.7419355 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGACGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 24 16 0.85 0.85 0.85 441 686 0.971037 0.9559201 0.9634786 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 0.3679239 0.2855593 0.8450851 0.636737 0.004914882 0.3267416 0.3218267 FALSE FALSE 0 0.526 rs1006363 upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs1006363 1 T:0.1837 T:0.0204 T:0.219 NA T:0.252 T:0.2992 T:0.1902 T:0.0763 T:0.2952 GCC C,T 0.248 10:20819448 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 synonymous_variant 2.14415 0.30599 0.07443 0.554377 0.6668507 0 5.769838e-24 FALSE 0.248084 ENSE00001376061_013 ENSE00001376061 013 10 21108320 21108489 - 33 93 44 T A 21108379 491 111 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGTGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819449 20819450 20819450 exon -27 0.7204301 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGTGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 12 87 0.85 0.85 0.85 1416 516 0.9602933 0.9085599 0.9344266 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 0.3571801 0.2381991 0.8450851 0.636737 0.004914882 0.2976896 0.2927748 FALSE FALSE 0.155 1.062 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA CTC T,A 8.236e-06 10:20819450 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 5.572606 0.37179 0.73641 0.553676 0.9987788 0 5.769838e-24 FALSE 8.12717e-06 ENSE00001376061_014 ENSE00001376061 014 10 21108320 21108489 - 33 93 44 C T 21108382 492 108 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAATGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819452 20819453 20819453 exon -30 0.688172 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAATGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 267 606 0.7715373 0.9561551 0.8638462 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.1684242 0.2857943 0.8450851 0.636737 NA 0.2271093 NA FALSE NA 1 6.685 rs149878829 upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs149878829 1 NA T:0.0002 T:0 ACT C,T 2.471e-05 10:20819453 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 6.972339 0.99621 0.99383 0.553676 0.9992695 0 5.769838e-24 FALSE 1.62549e-05 ENSE00001376061_015 ENSE00001376061 015 10 21108320 21108489 - 33 93 44 T A 21108385 493 105 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGTGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819455 20819456 20819456 exon -33 0.655914 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGTGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 12 25 0.8029298 0.85 0.8264649 121 1063 0.01763939 0.005162338 0.01140086 0.8448183 0.845352 0.6031132 0.6703608 -0.04188844 0.004648039 -0.5854738 -0.6651985 0.8450851 0.636737 -0.0186202 -0.6253361 0.6067159 TRUE FALSE 0.991 0.741 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs553318424 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CTC T,A 8.237e-06 10:20819456 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 stop_gained 11.60475 0.98504 0.96147 0.553676 0.9980755 0 5.769838e-24 FALSE 4.06365e-06 ENSE00001376061_016 ENSE00001376061 016 10 21108320 21108489 - 33 93 44 C G 21108386 494 104 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGACAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819456 20819457 20819457 exon -34 0.6451613 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGACAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 15 28 0.85 0.85 0.85 551 1350 0.7901771 0.8094568 0.799817 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 0.1870639 0.139096 0.8450851 0.636737 0.004914882 0.16308 0.1581651 FALSE FALSE 0.991 1.795 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:20819457 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 2.796529 0.98631 0.97056 0.553676 0.9938405 0 5.769838e-24 FALSE 1.21914e-05 ENSE00001376061_017 ENSE00001376061 017 10 21108320 21108489 - 33 93 44 C T 21108386 495 104 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAAAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819456 20819457 20819457 exon -34 0.6451613 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAAAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 118 116 0.85 0.85 0.85 1168 608 0.694366 0.8071372 0.7507516 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 0.09125286 0.1367764 0.8450851 0.636737 0.004914882 0.1140146 0.1090998 FALSE FALSE 0.991 1.795 NA NA NA NEBL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEBL NA NA NA ENSG00000078114 ENSE00003654874 synonymous_variant 1.943472 0.9844 0.93083 0.553676 0.5509727 0 5.769838e-24 FALSE 4.06379e-06 ENSE00001376061_018 ENSE00001376061 018 10 21108320 21108489 - 33 93 44 C T 21108388 496 102 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAAAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819458 20819459 20819459 exon -36 0.6236559 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAAAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 12 26 0.85 0.9314072 0.8907036 309 238 0.9724421 0.980711 0.9765765 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.08605524 0.3693289 0.3103502 0.8450851 0.636737 0.04561848 0.3398395 0.294221 FALSE FALSE 1 4.967 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA TCT C,T 1.647e-05 10:20819459 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 5.2178 0.99081 0.98473 0.553676 0.9990606 0 5.769838e-24 FALSE 4.46998e-05 ENSE00001376061_019 ENSE00001376061 019 10 21108320 21108489 - 33 93 44 C T 21108392 497 98 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAAATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819462 20819463 20819463 exon -40 0.5806452 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAAATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 11 35 0.85 0.8185278 0.8342639 1424 3981 0.9686077 0.9681882 0.968398 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 -0.02682419 0.3654946 0.2978274 0.8450851 0.636737 -0.01082123 0.331661 0.3424822 FALSE FALSE 1 1.132 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA TCT C,T 8.236e-06 10:20819463 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 synonymous_variant 1.640139 0.99315 0.94479 0.553676 0.540307 0 5.769838e-24 FALSE 8.12757e-06 ENSE00001376061_020 ENSE00001376061 020 10 21108320 21108489 - 33 93 44 C T 21108395 498 95 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCAGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819465 20819466 20819466 exon -43 0.5483871 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCAGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 544 2377 0.09008184 0.001040622 0.04556123 0.8448183 0.845352 0.6031132 0.6703608 NA NA -0.5130313 -0.6693202 0.8450851 0.636737 NA -0.5911757 NA TRUE NA 0 -4.695 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:20819466 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 synonymous_variant 2.19425 0.10305 0.00524 0.553676 0.5808836 0 5.769838e-24 FALSE 7.72163e-05 ENSE00001376061_021 ENSE00001376061 021 10 21108320 21108489 - 33 93 44 C G 21108395 499 95 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCCGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819465 20819466 20819466 exon -43 0.5483871 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCCGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 1148 169 0.7321326 0.8014942 0.7668134 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.1290194 0.1311334 0.8450851 0.636737 NA 0.1300764 NA FALSE NA 0 -4.695 NA NA NA NEBL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEBL NA NA NA ENSG00000078114 ENSE00003654874 synonymous_variant 1.783104 0.11926 0.0251 0.553676 0.5164564 0 5.769838e-24 FALSE 4.06402e-06 ENSE00001376061_022 ENSE00001376061 022 10 21108320 21108489 - 33 93 44 G A 21108396 500 94 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCTGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819466 20819467 20819467 exon -44 0.5376344 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCTGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 1043 182 0.996987 0.9340052 0.9654961 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.3938739 0.2636444 0.8450851 0.636737 NA 0.3287591 NA FALSE NA 1 6.617 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 COSM146903 1 NA CGG G,A 0.0001235 10:20819467 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 6.852666 0.99614 0.98826 0.553676 0.9991078 0 5.769838e-24 FALSE 7.31571e-05 ENSE00001376061_023 ENSE00001376061 023 10 21108320 21108489 - 33 93 44 T C 21108400 501 90 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGGCCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819470 20819471 20819471 exon 46 0.4946237 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGGCCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 76 55 0.85 0.8100393 0.8300196 633 327 0.8367865 0.810182 0.8234843 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 -0.03531267 0.2336733 0.1398212 0.8450851 0.636737 -0.01506547 0.1867473 0.2018127 FALSE FALSE 1 6.584 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA GTC T,C 2.471e-05 10:20819471 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 5.234273 0.99474 0.99344 0.553676 0.9978921 0 5.769838e-24 FALSE 2.03183e-05 ENSE00001376061_024 ENSE00001376061 024 10 21108320 21108489 - 33 93 44 A G 21108402 502 88 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCACGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819472 20819473 20819473 exon 44 0.4731183 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCACGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 419 691 0.9991127 0.9887371 0.9939249 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.3959995 0.3183763 0.8450851 0.636737 NA 0.3571879 NA FALSE NA 0.039 1.062 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs375197621 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CAT A,G 3.295e-05 10:20819473 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant -0.124737 0.32915 0.13162 0.553676 0.4600751 0 5.769838e-24 FALSE 2.03198e-05 ENSE00001376061_025 ENSE00001376061 025 10 21108320 21108489 - 33 93 44 T A 21108403 503 87 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCTTGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819473 20819474 20819474 exon 43 0.4623656 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCTTGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 59 128 0.85 0.85 0.85 2592 1448 0.7882157 0.943307 0.8657614 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 0.1851025 0.2729462 0.8450851 0.636737 0.004914882 0.2290244 0.2241095 FALSE FALSE 0 -0.008 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs572539655 1 NA ATG T,A 8.236e-06 10:20819474 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant -0.120478 0.26868 0.08044 0.553676 0.5239121 0 5.769838e-24 FALSE 8.12744e-06 ENSE00001376061_027 ENSE00001376061 027 10 21108320 21108489 - 33 93 44 C T 21108410 505 80 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCAGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819480 20819481 20819481 exon 36 0.3870968 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCAGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 19 73 0.85 0.85 0.85 1534 516 0.9757617 0.9622076 0.9689847 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 0.3726486 0.2918468 0.8450851 0.636737 0.004914882 0.3322477 0.3273328 FALSE FALSE 0 -0.939 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA CCG C,T 3.295e-05 10:20819481 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 synonymous_variant 1.780509 0.38626 0.022 0.553676 0.6195354 0 5.769838e-24 FALSE 4.06398e-05 ENSE00001376061_028 ENSE00001376061 028 10 21108320 21108489 - 33 93 44 G A 21108411 506 79 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCTGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819481 20819482 20819482 exon 35 0.3763441 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCTGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 22 29 0.85 0.85 0.85 NA NA NA NA NA 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 0.004648039 NA NA 0.8450851 0.636737 0.004914882 NA NA NA FALSE 1 5.194 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 COSM3436479 1 NA CGG G,A 3.295e-05 10:20819482 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 5.577542 0.98735 0.96656 0.553676 0.9989413 0 5.769838e-24 FALSE 2.43845e-05 ENSE00001376061_029 ENSE00001376061 029 10 21108320 21108489 - 33 93 44 G A 21108412 507 78 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTTCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819482 20819483 20819483 exon 34 0.3655914 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTTCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 512 783 0.9997006 0.8995549 0.9496277 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.3965874 0.2291941 0.8450851 0.636737 NA 0.3128908 NA FALSE NA 0.978 2.369 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA GGA G,A 1.647e-05 10:20819483 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 4.301064 0.97846 0.90115 0.553676 0.9984307 0 5.769838e-24 FALSE 4.06398e-05 ENSE00001376061_030 ENSE00001376061 030 10 21108320 21108489 - 33 93 44 G A 21108414 508 76 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCATTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819484 20819485 20819485 exon 32 0.344086 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCATTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 96 179 0.8442692 0.831472 0.8378706 763 2274 0.939494 0.859218 0.899356 0.8448183 0.845352 0.6031132 0.6703608 -0.000549113 -0.01387999 0.3363809 0.1888572 0.8450851 0.636737 -0.00721455 0.262619 0.2698336 FALSE FALSE 1 6.443 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA AGT G,A 8.236e-06 10:20819485 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 5.17597 0.9962 0.98986 0.553676 0.9989353 0 5.769838e-24 FALSE 8.1277e-06 ENSE00001376061_031 ENSE00001376061 031 10 21108320 21108489 - 33 93 44 C T 21108419 509 71 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAAGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819489 20819490 20819490 exon 27 0.2903226 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAAGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 972 355 0.7218123 0.6334182 0.6776152 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.1186991 -0.0369426 0.8450851 0.636737 NA 0.04087826 NA FALSE NA 0 -0.386 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA CCT C,T 8.236e-06 10:20819490 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 synonymous_variant 1.805447 0.20066 0.00683 0.553676 0.4856037 0 5.769838e-24 FALSE 4.06369e-06 ENSE00001376061_032 ENSE00001376061 032 10 21108320 21108489 - 33 93 44 G T 21108430 510 60 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGAAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819500 20819501 20819501 exon 16 0.172043 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGAAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 636 1067 0.9746713 0.9684924 0.9715818 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.3715581 0.2981316 0.8450851 0.636737 NA 0.3348448 NA FALSE NA 0 1.74 rs11012351 upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs11012351 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TGC G,T 5.765e-05 10:20819501 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 missense_variant 1.827307 0.99183 0.30177 0.553676 0.9649296 0 5.769838e-24 FALSE 6.9081e-05 ENSE00001376061_033 ENSE00001376061 033 10 21108320 21108489 - 33 93 44 G C 21108443 511 47 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTGCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819513 20819514 20819514 exon 3 0.03225806 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTGCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 104 141 0.8728459 0.85 0.861423 915 1109 0.8024627 0.800879 0.8016708 0.8448183 0.845352 0.6031132 0.6703608 0.02802767 0.004648039 0.1993495 0.1305181 0.8450851 0.636737 0.01633786 0.1649338 0.148596 FALSE FALSE 0 -1.146 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA GGA G,C 8.236e-06 10:20819514 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 splice_region_variant 1.212884 0.94677 0.09812 0.553676 0.7903137 0 5.769838e-24 FALSE 4.06425e-06 ENSE00001376061_034 ENSE00001376061 034 10 21108320 21108489 - 33 93 44 G C 21108452 512 38 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTGTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819522 20819523 20819523 upstr_intron -7 -0.1363636 TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTGTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 116 89 0.06629072 0 0.03314536 1393 1401 0.0137252 0 0.006862601 0.8448183 0.845352 0.6031132 0.6703608 -0.7785276 -0.845352 -0.5893879 -0.6703608 0.8450851 0.636737 -0.8119398 -0.6298744 0.1820654 TRUE TRUE 0.197 0.749 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA AGA G,C 8.236e-06 10:20819523 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 splice_region_variant 0.810722 0.98054 0.62178 0.053691 0.6571867 0.334544 5.769838e-24 FALSE 4.06448e-06 ENSE00001376061_035 ENSE00001376061 035 10 21108320 21108489 - 33 93 44 G A 21108458 513 32 TTTATTTCCCATAATCTCAAACTGTCTTGCATCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819528 20819529 20819529 upstr_intron -13 -0.2727273 TTTATTTCCCATAATCTCAAACTGTCTTGCATCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 3144 441 0.9952345 0.9906224 0.9929284 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.3921213 0.3202616 0.8450851 0.636737 NA 0.3561915 NA FALSE NA 0.003 -0.162 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA GGT G,A 1.647e-05 10:20819529 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 intron_variant 0.713488 0.22291 0.06136 0.053691 0.8145814 0.237861 5.769838e-24 FALSE 8.13008e-06 ENSE00001376061_036 ENSE00001376061 036 10 21108320 21108489 - 33 93 44 G C 21108464 514 26 TTTATTTCCCATAATCTCAAACTGTGTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819534 20819535 20819535 upstr_intron -19 -0.4090909 TTTATTTCCCATAATCTCAAACTGTGTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 12 74 0.7528982 0.85 0.8014491 NA NA NA NA NA 0.8448183 0.845352 0.6031132 0.6703608 -0.09192004 0.004648039 NA NA 0.8450851 0.636737 -0.043636 NA NA NA FALSE 0.126 0.068 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA AGA G,C 8.236e-06 10:20819535 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 intron_variant 0.449779 0.3309 0.1215 0.053691 0.6325227 0.159064 5.769838e-24 FALSE 4.06564e-06 ENSE00001376061_037 ENSE00001376061 037 10 21108320 21108489 - 33 93 44 C T 21108466 515 24 TTTATTTCCCATAATCTCAAACTATCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819536 20819537 20819537 upstr_intron -21 -0.4545455 TTTATTTCCCATAATCTCAAACTATCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 368 346 0.7942251 0.8 0.7971125 0.8448183 0.845352 0.6031132 0.6703608 NA NA 0.1911119 0.1296392 0.8450851 0.636737 NA 0.1603756 NA FALSE NA 0 -0.412 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 rs566104456 1 NA ACA C,T 1.647e-05 10:20819537 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 intron_variant 1.091744 0.24823 0.0173 0.053691 0.7731519 0.159064 5.769838e-24 FALSE 8.13107e-06 ENSE00001376061_038 ENSE00001376061 038 10 21108320 21108489 - 33 93 44 T C 21108471 516 19 TTTATTTCCCATAATCTCGAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819541 20819542 20819542 upstr_intron -26 -0.5681818 TTTATTTCCCATAATCTCGAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant NA NA NA NA NA 2342 675 0.004131522 0.007965212 0.006048367 0.8448183 0.845352 0.6031132 0.6703608 NA NA -0.5989816 -0.6623956 0.8450851 0.636737 NA -0.6306886 NA TRUE NA 0 0.183 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA TTG T,C 8.237e-06 10:20819542 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 intron_variant 0.821132 0.22598 0.07169 0.053691 0.6668333 0.159064 5.769838e-24 FALSE NA ENSE00001376061_039 ENSE00001376061 039 10 21108320 21108489 - 33 93 44 G C 21108474 517 16 TTTATTTCCCATAATGTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819544 20819545 20819545 upstr_intron -29 -0.6363636 TTTATTTCCCATAATGTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 355 217 0.1046328 0.06125315 0.08294297 299 1480 0.05939563 0.05637618 0.05788591 0.8448183 0.845352 0.6031132 0.6703608 -0.7401855 -0.7840988 -0.5437175 -0.6139846 0.8450851 0.636737 -0.7621421 -0.5788511 0.1832911 TRUE TRUE 0 0.221 NA NA NA NEBL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:20819545 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 intron_variant 0.132296 0.2516 0.13528 0.053691 0.5778634 0.118406 5.769838e-24 FALSE 7.32023e-05 ENSE00001376061_041 ENSE00001376061 041 10 21108320 21108489 - 33 93 44 T C 21108479 519 11 TTTATTTCCCGTAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 20819549 20819550 20819550 upstr_intron -34 -0.75 TTTATTTCCCGTAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC mutant 53 90 0.85 0.6850324 0.7675162 937 2744 0.8255088 0.8080041 0.8167564 0.8448183 0.845352 0.6031132 0.6703608 0.005181725 -0.1603195 0.2223957 0.1376433 0.8450851 0.636737 -0.0775689 0.1800195 0.2575884 FALSE FALSE 0 -5.577 . upstream_gene_variant MODIFIER NEBL HGNC 16932 ENST00000473616 1 NA ATG T,C 8.237e-06 10:20819550 NEBL HGNC Symbol protein_coding 394214 ENSG00000078114 ENSE00003654874 intron_variant -0.038521 0.0953 0.00241 0.053691 0.3978481 0.173415 5.769838e-24 FALSE 8.13504e-06 ENSE00001376061_BRK ENSE00001376061 BRK 10 21108320 21108489 - 33 93 44 A,G; T,T NA NA NA TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCTTCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGCCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC 20819390 20819560 NA NA NA NA NA NA TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCTTCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGCCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC TTTATTTCCCATAATCTCAAACTGTCTTGCACCTTGTCTCTCAGCTCCAGTATAAAGAGCAAAACTACAAGGCCACTCCGGTAAGCATGACCCCGGAGATAGAGAGAGTGAGGCGAAACCAGGAGCAGCTGAGTGCGGCAAGTCGTTTCTGTTTCCTTTTATATTTTCTC control 44 142 0 0 0 1124 380 0.03065476 0.01917538 0.02491507 0.8448183 0.845352 0.6031132 0.6703608 -0.8448183 -0.845352 -0.5724584 -0.6511854 0.8450851 0.636737 -0.8450851 -0.6118219 0.2332632 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEBL NA NA NA ENSG00000078114 ENSE00003654874 NA NA NA NA NA NA NA 5.769838e-24 FALSE NA ENSE00001376855_000 ENSE00001376855 000 5 171849381 171849550 - 39 81 50 NA NA NA NA NA GGGAGACCACCTTCTGGTGTTAACACCCATCTCCTCTGTTGCTCCCGCAGGTCTACATCATCCGGGTCACGTGGTCCAGCGGCTCCACCGAGGCCATTTACCGGCGCTACAGCAAGTTTTTTGACCTCCAGGTAAGGATTTGAGGTCTCTGGTGAGCTGCAGGATCGGAA 172422376 172422546 NA NA NA NA NA NA GGGAGACCACCTTCTGGTGTTAACACCCATCTCCTCTGTTGCTCCCGCAGGTCTACATCATCCGGGTCACGTGGTCCAGCGGCTCCACCGAGGCCATTTACCGGCGCTACAGCAAGTTTTTTGACCTCCAGGTAAGGATTTGAGGTCTCTGGTGAGCTGCAGGATCGGAA GGGAGACCACCTTCTGGTGTTAACACCCATCTCCTCTGTTGCTCCCGCAGGTCTACATCATCCGGGTCACGTGGTCCAGCGGCTCCACCGAGGCCATTTACCGGCGCTACAGCAAGTTTTTTGACCTCCAGGTAAGGATTTGAGGTCTCTGGTGAGCTGCAGGATCGGAA natural 23 73 0.9769449 0.8745145 0.9257297 445 282 0.8611967 0.9641203 0.9126585 0.9769449 0.8745145 0.8611967 0.9641203 0 0 0 0 0.9257297 0.9126585 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001376855 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001379288_000 ENSE00001379288 000 8 139620126 139620295 - 53 54 63 NA NA NA NA NA TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC 138607882 138608052 NA NA NA NA NA NA TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC natural NA NA NA NA NA 1411 2295 0.9811386 0.9936569 0.9873977 NA NA 0.9811386 0.9936569 NA NA 0 0 NA 0.9873977 NA 0 NA FALSE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003482420 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001379288_008 ENSE00001379288 008 8 139620126 139620295 - 53 54 63 G A 139620169 2254 127 TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTTTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC 138607882 138608052 138607925 138607926 138607926 downstr_intron 10 1.192308 TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTTTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC mutant NA NA NA NA NA 13 127 1 0.9987923 0.9993961 NA NA 0.9811386 0.9936569 NA NA 0.01886142 0.005135377 NA 0.9873977 NA 0.0119984 NA FALSE NA 0 0.066 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 57/64 1 NA AGA G,A 1.647e-05 8:138607926 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003482420 intron_variant 0.148549 0.27231 0.02864 0.061011 0.6843774 0.0601286 8.258326e-32 FALSE 8.13392e-06 ENSE00001379288_009 ENSE00001379288 009 8 139620126 139620295 - 53 54 63 G A 139620182 2255 114 TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACTCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC 138607882 138608052 138607938 138607939 138607939 exon -4 0.9444444 TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACTCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC mutant NA NA NA NA NA 321 219 0 0.002312837 0.001156419 NA NA 0.9811386 0.9936569 NA NA -0.9811386 -0.9913441 NA 0.9873977 NA -0.9862413 NA TRUE NA 0.882 1.524 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 57/65 1 NA GGG G,A 8.236e-06 8:138607939 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003482420 synonymous_variant -0.047859 0.31491 0.66499 0.553676 0.5937135 0 8.258326e-32 FALSE 4.06564e-06 ENSE00001379288_022 ENSE00001379288 022 8 139620126 139620295 - 53 54 63 C A 139620246 2268 50 TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTTTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC 138607882 138608052 138608002 138608003 138608003 upstr_intron -14 -0.2063492 TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTTTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC mutant NA NA NA NA NA 37 40 1 1 1 NA NA 0.9811386 0.9936569 NA NA 0.01886142 0.006343098 NA 0.9873977 NA 0.01260226 NA FALSE NA 0.001 -0.16 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 56/64 1 NA ACA C,A 8.236e-06 8:138608003 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003482420 intron_variant 0.434292 0.25254 0.05901 0.061011 0.7074809 0.0456478 8.258326e-32 FALSE NA ENSE00001379288_027 ENSE00001379288 027 8 139620126 139620295 - 53 54 63 G C 139620282 2273 14 TTTGTTCCACCGTGCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC 138607882 138608052 138608038 138608039 138608039 upstr_intron -50 -0.7777778 TTTGTTCCACCGTGCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC mutant NA NA NA NA NA 1553 35 0.9986843 0.9908534 0.9947689 NA NA 0.9811386 0.9936569 NA NA 0.01754577 -0.002803498 NA 0.9873977 NA 0.007371137 NA FALSE NA 0.004 0.386 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 56/64 1 NA GGA G,C 4.118e-05 8:138608039 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003482420 intron_variant -0.100554 0.32593 0.07241 0.061011 0.512697 0.0461414 8.258326e-32 FALSE 2.90189e-05 ENSE00001379288_028 ENSE00001379288 028 8 139620126 139620295 - 53 54 63 C T 139620284 2274 12 TTTGTTCCACCATCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC 138607882 138608052 138608040 138608041 138608041 upstr_intron -52 -0.8095238 TTTGTTCCACCATCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC TTTGTTCCACCGTCCTGCTCTTTGATGCCCTGGCAGGATGATTACCTCTGTTTCTTCCACCAGGGCAAGAATGGATCACCGGGATCTCCAGGAGAGCCTGGCCCTTCAGGAACCCCTGTGAGTTCTCTTTGGCTGCTATGTGATGGCATCAGGGTGGGCTTTGAAAGGGC mutant NA NA NA NA NA 54 739 0.9628559 0.9826185 0.9727372 NA NA 0.9811386 0.9936569 NA NA -0.01828267 -0.01103845 NA 0.9873977 NA -0.01466056 NA FALSE NA 0 -2.862 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 56/64 rs372290135 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0006 ACG C,T 0.0004036 8:138608041 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003482420 intron_variant -0.004705 0.16982 0.00876 0.061011 0.6679779 0.0461414 8.258326e-32 FALSE 0.000457792 ENSE00001379608_000 ENSE00001379608 000 12 132561010 132561179 + 51 78 41 NA NA NA NA NA GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG 132076464 132076634 NA NA NA NA NA NA GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG natural 185 255 0.85 0.811202 0.830601 896 2049 0.874838 0.8332617 0.8540498 0.85 0.811202 0.874838 0.8332617 0 0 0 0 0.830601 0.8540498 0 0 0 FALSE FALSE NA NA NA NA NA EP400 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EP400 NA NA NA ENSG00000183495 ENSE00001379608 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001379608_001 ENSE00001379608 001 12 132561010 132561179 + 51 78 41 C T 132561022 3959 13 GTGCACATACTCTTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG 132076464 132076634 132076476 132076477 132076477 upstr_intron -39 -0.745098 GTGCACATACTCTTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG mutant 16 23 0.85 0.85 0.85 1514 188 0.9424949 0.9803948 0.9614449 0.85 0.811202 0.874838 0.8332617 -1.110223e-16 0.038798 0.06765698 0.1471331 0.830601 0.8540498 0.019399 0.107395 0.08799603 FALSE FALSE 0 -1.377 . intron_variant MODIFIER EP400 HGNC 11958 ENST00000389562 51/52 rs561832388 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 8.237e-06 12:132076477 EP400 HGNC Symbol protein_coding 131182 ENSG00000183495 ENSE00001379608 non_coding_transcript_exon_variant 0.249439 0.12833 0.00376 0.156188 0.5455297 0.191097 1 TRUE 4.1177e-06 ENSE00001379608_002 ENSE00001379608 002 12 132561010 132561179 + 51 78 41 G A 132561035 3960 26 GTGCACATACTCCTTTGAATTGTATATTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG 132076464 132076634 132076489 132076490 132076490 upstr_intron -26 -0.4901961 GTGCACATACTCCTTTGAATTGTATATTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG mutant NA NA NA NA NA 404 347 0.6539779 0.8004161 0.727197 0.85 0.811202 0.874838 0.8332617 NA NA -0.22086 -0.03284557 0.830601 0.8540498 NA -0.1268528 NA FALSE NA 0 -0.249 . intron_variant MODIFIER EP400 HGNC 11958 ENST00000389562 51/52 1 NA TGT G,A 4.942e-05 12:132076490 EP400 HGNC Symbol protein_coding 131182 ENSG00000183495 ENSE00001379608 non_coding_transcript_exon_variant 0.465594 0.15617 0.04879 0.156188 0.7338249 0.195784 1 TRUE 2.44433e-05 ENSE00001379608_003 ENSE00001379608 003 12 132561010 132561179 + 51 78 41 T G 132561048 3961 39 GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTGGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG 132076464 132076634 132076502 132076503 132076503 upstr_intron -13 -0.2352941 GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTGGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG mutant NA NA NA NA NA 53 935 0 0.0003421433 0.0001710717 0.85 0.811202 0.874838 0.8332617 NA NA -0.874838 -0.8329196 0.830601 0.8540498 NA -0.8538788 NA TRUE NA 0.001 0.306 . intron_variant MODIFIER EP400 HGNC 11958 ENST00000389562 51/52 1 NA TTG T,G 8.236e-06 12:132076503 EP400 HGNC Symbol protein_coding 131182 ENSG00000183495 ENSE00001379608 non_coding_transcript_exon_variant 1.622174 0.31674 0.3409 0.156188 0.8504277 0.273518 1 TRUE 4.06349e-06 ENSE00001379608_005 ENSE00001379608 005 12 132561010 132561179 + 51 78 41 A G 132561066 3963 57 GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCGAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG 132076464 132076634 132076520 132076521 132076521 exon 6 0.07692308 GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCGAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG mutant NA NA NA NA NA 84 43 0.999509 1 0.9997545 0.85 0.811202 0.874838 0.8332617 NA NA 0.1246711 0.1667383 0.830601 0.8540498 NA 0.1457047 NA FALSE NA 0.848 0.018 . synonymous_variant LOW EP400 HGNC 11958 ENST00000389562 52/53 rs572037651 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAA A,G 4.118e-05 12:132076521 EP400 HGNC Symbol protein_coding 131182 ENSG00000183495 ENSE00001379608 synonymous_variant 0.820067 0.96392 0.91134 0.706548 0.793736 0 1 TRUE 5.68519e-05 ENSE00001379608_012 ENSE00001379608 012 12 132561010 132561179 + 51 78 41 G A 132561146 3970 137 GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACACATAGACAAAGTGGAAACCTCACATTTCCCAGG 132076464 132076634 132076600 132076601 132076601 downstr_intron 8 1.2 GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACACATAGACAAAGTGGAAACCTCACATTTCCCAGG GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG mutant 10 21 0.85 0.85 0.85 973 122 0.8 0.9799494 0.8899747 0.85 0.811202 0.874838 0.8332617 0 0.038798 -0.07483796 0.1466877 0.830601 0.8540498 0.019399 0.03592487 0.01652586 FALSE FALSE 0 -0.688 . splice_region_variant&intron_variant LOW EP400 HGNC 11958 ENST00000389562 52/52 1 NA CGC G,A 8.236e-06 12:132076601 EP400 HGNC Symbol protein_coding 131182 ENSG00000183495 ENSE00001379608 splice_region_variant 0.187406 0.13735 0.01178 0.156188 0.5874238 0.0585275 1 TRUE 2.89149e-05 ENSE00001379608_013 ENSE00001379608 013 12 132561010 132561179 + 51 78 41 A G 132561148 3971 139 GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCGTAGACAAAGTGGAAACCTCACATTTCCCAGG 132076464 132076634 132076602 132076603 132076603 downstr_intron 10 1.25 GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCGTAGACAAAGTGGAAACCTCACATTTCCCAGG GTGCACATACTCCTTTGAATTGTATGTTTGGCTTTTTTTGTTTTGTCAAAGGTTGCAAAACTTCCTCAAGTTGTTCAACAGCAAACACCCGTGGCCAGCATCCAGCAAGTTGCCTCTGCTTCCCAGCAGGTAGGACGCATAGACAAAGTGGAAACCTCACATTTCCCAGG mutant NA NA NA NA NA 425 163 0.90568 0.8 0.85284 0.85 0.811202 0.874838 0.8332617 NA NA 0.03084202 -0.03326169 0.830601 0.8540498 NA -0.001209838 NA FALSE NA 0 0.084 . intron_variant MODIFIER EP400 HGNC 11958 ENST00000389562 52/52 rs374186236 1 NA G:0 G:0.0001 CAT A,G 5.765e-05 12:132076603 EP400 HGNC Symbol protein_coding 131182 ENSG00000183495 ENSE00001379608 intron_variant 0.033698 0.08044 0.00053 0.156188 0.5265123 0.0507273 1 TRUE 7.85449e-05 ENSE00001380238_000 ENSE00001380238 000 12 41946417 41946586 + 41 99 30 NA NA NA NA NA CTCGAATTTCCCCTCCATGGCGTTTCTTACCTCGCTGACATAAATGCCGGTGTCTTCTTCATCATCTGTTCGGTAACAGACTGTCAGGCCCAGCTTCTCTTGACTGCTAACACGACACAACTCGACCTCCTGAAAGAACAACACACACAGATGACATTTATGTCAGAGAG 41552614 41552784 NA NA NA NA NA NA CTCTCTGACATAAATGTCATCTGTGTGTGTTGTTCTTTCAGGAGGTCGAGTTGTGTCGTGTTAGCAGTCAAGAGAAGCTGGGCCTGACAGTCTGTTACCGAACAGATGATGAAGAAGACACCGGCATTTATGTCAGCGAGGTAAGAAACGCCATGGAGGGGAAATTCGAG CTCTCTGACATAAATGTCATCTGTGTGTGTTGTTCTTTCAGGAGGTCGAGTTGTGTCGTGTTAGCAGTCAAGAGAAGCTGGGCCTGACAGTCTGTTACCGAACAGATGATGAAGAAGACACCGGCATTTATGTCAGCGAGGTAAGAAACGCCATGGAGGGGAAATTCGAG natural NA NA NA NA NA 591 1389 0.96619 0.9908178 0.9785039 NA NA 0.96619 0.9908178 NA NA 0 0 NA 0.9785039 NA 0 NA FALSE NA NA NA NA NA NA PDZRN4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZRN4 NA NA NA ENSG00000165966 ENSE00003599144 NA NA NA NA NA NA NA 0.07085277 FALSE NA ENSE00001380238_012 ENSE00001380238 012 12 41946417 41946586 + 41 99 30 T C 41946470 961 54 CTCGAATTTCCCCTCCATGGCGTTTCTTACCTCGCTGACATAAATGCCGGTGTCTTCTTCATCATCTGTTCGGTAACAGACTGTCAGGCCCAGCTTCTCTTGACTGCTAACACGACGCAACTCGACCTCCTGAAAGAACAACACACACAGATGACATTTATGTCAGAGAG 41552614 41552784 41552667 41552668 41552668 exon 13 0.1313131 CTCTCTGACATAAATGTCATCTGTGTGTGTTGTTCTTTCAGGAGGTCGAGTTGCGTCGTGTTAGCAGTCAAGAGAAGCTGGGCCTGACAGTCTGTTACCGAACAGATGATGAAGAAGACACCGGCATTTATGTCAGCGAGGTAAGAAACGCCATGGAGGGGAAATTCGAG CTCTCTGACATAAATGTCATCTGTGTGTGTTGTTCTTTCAGGAGGTCGAGTTGTGTCGTGTTAGCAGTCAAGAGAAGCTGGGCCTGACAGTCTGTTACCGAACAGATGATGAAGAAGACACCGGCATTTATGTCAGCGAGGTAAGAAACGCCATGGAGGGGAAATTCGAG mutant NA NA NA NA NA 38 65 1 0.9994124 0.9997062 NA NA 0.96619 0.9908178 NA NA 0.03380997 0.008594548 NA 0.9785039 NA 0.02120226 NA FALSE NA 1 7.999 . missense_variant MODERATE PDZRN4 HGNC 30552 ENST00000298919 6/10 1 tolerated(0.24) benign(0.064) NA GTG T,C 8.236e-06 12:41552668 PDZRN4 HGNC Symbol protein_coding 386142 ENSG00000165966 ENSE00003599144 missense_variant 3.683496 0.96774 0.9127 0.487112 0.9766536 0 0.07085277 FALSE 4.06719e-06 ENSE00001382066_000 ENSE00001382066 000 9 115613092 115613261 + 47 87 36 NA NA NA NA NA ACAGCTTTGCAGCCCTTCCCAGGTGGCTTCCCTGACCTTGGGGCGGTCTTCCTTCCGCAGAGCCACAGCTTCCAGTTTGGCTTCATACTCTGCTTGAACTTGGTCCCTCTTCTTCAATACACTCTGTGGGAGGCAGAGGAGAGAAGCATGTAACACTGAGTCCACAAAGG 112850811 112850981 NA NA NA NA NA NA CCTTTGTGGACTCAGTGTTACATGCTTCTCTCCTCTGCCTCCCACAGAGTGTATTGAAGAAGAGGGACCAAGTTCAAGCAGAGTATGAAGCCAAACTGGAAGCTGTGGCTCTGCGGAAGGAAGACCGCCCCAAGGTCAGGGAAGCCACCTGGGAAGGGCTGCAAAGCTGT CCTTTGTGGACTCAGTGTTACATGCTTCTCTCCTCTGCCTCCCACAGAGTGTATTGAAGAAGAGGGACCAAGTTCAAGCAGAGTATGAAGCCAAACTGGAAGCTGTGGCTCTGCGGAAGGAAGACCGCCCCAAGGTCAGGGAAGCCACCTGGGAAGGGCTGCAAAGCTGT natural 32 39 0.9985139 0.9983148 0.9984143 774 925 0.9986093 0.9916544 0.9951319 0.9985139 0.9983148 0.9986093 0.9916544 0 0 0 0 0.9984143 0.9951319 0 0 0 FALSE FALSE NA NA NA NA NA SNX30 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX30 NA NA NA ENSG00000148158 ENSE00001382066 NA NA NA NA NA NA NA 0.9706268 TRUE NA ENSE00001382066_024 ENSE00001382066 024 9 115613092 115613261 + 47 87 36 C T 115613239 1473 148 ACAGCTTTGCAGCCCTTCCCAGATGGCTTCCCTGACCTTGGGGCGGTCTTCCTTCCGCAGAGCCACAGCTTCCAGTTTGGCTTCATACTCTGCTTGAACTTGGTCCCTCTTCTTCAATACACTCTGTGGGAGGCAGAGGAGAGAAGCATGTAACACTGAGTCCACAAAGG 112850811 112850981 112850958 112850959 112850959 downstr_intron 14 1.4 CCTTTGTGGACTCAGTGTTACATGCTTCTCTCCTCTGCCTCCCACAGAGTGTATTGAAGAAGAGGGACCAAGTTCAAGCAGAGTATGAAGCCAAACTGGAAGCTGTGGCTCTGCGGAAGGAAGACCGCCCCAAGGTCAGGGAAGCCATCTGGGAAGGGCTGCAAAGCTGT CCTTTGTGGACTCAGTGTTACATGCTTCTCTCCTCTGCCTCCCACAGAGTGTATTGAAGAAGAGGGACCAAGTTCAAGCAGAGTATGAAGCCAAACTGGAAGCTGTGGCTCTGCGGAAGGAAGACCGCCCCAAGGTCAGGGAAGCCACCTGGGAAGGGCTGCAAAGCTGT mutant NA NA NA NA NA 51 139 1 1 1 0.9985139 0.9983148 0.9986093 0.9916544 NA NA 0.001390674 0.008345607 0.9984143 0.9951319 NA 0.004868141 NA FALSE NA 0 0.214 . intron_variant MODIFIER SNX30 HGNC 23685 ENST00000374232 7/8 1 NA ACC C,T 2.481e-05 9:112850959 SNX30 HGNC Symbol protein_coding 130833 ENSG00000148158 ENSE00001382066 intron_variant 0.554284 0.16844 0.06808 0.053691 0.591651 0.112595 0.9706268 TRUE 1.62979e-05 ENSE00001382094_000 ENSE00001382094 000 4 109784430 109784599 - 45 69 56 NA NA NA NA NA AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACCCAGGCTGGTCCCT 108863273 108863443 NA NA NA NA NA NA AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT natural 606 843 0.8316955 0.8411175 0.8364065 40 47 0.9646673 0.9702045 0.9674359 0.8316955 0.8411175 0.9646673 0.9702045 0 0 0 0 0.8364065 0.9674359 0 0 0 FALSE FALSE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001382094 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001382094_011 ENSE00001382094 011 4 109784430 109784599 - 45 69 56 G A 109784480 1205 120 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGATCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACCCAGGCTGGTCCCT 108863273 108863443 108863323 108863324 108863324 exon -6 0.9275362 AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGATCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 10 11 0.9774263 0.976132 0.9767792 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.01275906 0.005927537 0.8364065 0.9674359 NA 0.0093433 NA FALSE NA 1 5.631 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 20/33 rs200927290 1 benign(0.262) NA GGT G,A 4.967e-05 4:108863324 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 missense_variant 2.718586 0.98428 0.95482 0.615465 0.9532748 0 7.11572e-08 FALSE 4.47682e-05 ENSE00001382094_019 ENSE00001382094 019 4 109784430 109784599 - 45 69 56 C T 109784532 1213 68 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCTCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACCCAGGCTGGTCCCT 108863273 108863443 108863375 108863376 108863376 exon 12 0.173913 AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGAGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 425 206 1 0.9994438 0.9997219 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03533272 0.02923933 0.8364065 0.9674359 NA 0.03228603 NA FALSE NA 0.994 0.003 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 20/33 rs367614775 1 NA T:0 T:0.0001 CCC C,T 8.279e-06 4:108863376 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 synonymous_variant 2.045728 0.96225 0.41411 0.554377 0.6534781 0 7.11572e-08 FALSE 4.07461e-06 ENSE00001382094_020 ENSE00001382094 020 4 109784430 109784599 - 45 69 56 C T 109784534 1214 66 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCTCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACCCAGGCTGGTCCCT 108863273 108863443 108863377 108863378 108863378 exon 10 0.1449275 AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGAGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 130 802 1 0.9984185 0.9992093 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03533272 0.02821403 0.8364065 0.9674359 NA 0.03177337 NA FALSE NA 1 5.843 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 20/33 1 probably_damaging(1) NA CCC C,T 8.278e-06 4:108863378 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 missense_variant 5.935763 0.99027 0.96482 0.554377 0.9985927 0 7.11572e-08 FALSE 4.07289e-06 ENSE00001382094_022 ENSE00001382094 022 4 109784430 109784599 - 45 69 56 C G 109784536 1216 64 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCGGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACCCAGGCTGGTCCCT 108863273 108863443 108863379 108863380 108863380 exon 8 0.115942 AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACCGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 647 175 0.9976225 1 0.9988113 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03295523 0.02979549 0.8364065 0.9674359 NA 0.03137536 NA FALSE NA 0.997 2.449 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:108863380 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 missense_variant 5.633651 0.98529 0.93301 0.554377 0.9930104 0 7.11572e-08 FALSE 1.22231e-05 ENSE00001382094_025 ENSE00001382094 025 4 109784430 109784599 - 45 69 56 C A 109784578 1219 22 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTACCCCCACCCAGGCTGGTCCCT 108863273 108863443 108863421 108863422 108863422 upstr_intron -35 -0.6071429 AGGGACCAGCCTGGGTGGGGGTAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 140 454 1 0.999242 0.999621 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03533272 0.02903747 0.8364065 0.9674359 NA 0.0321851 NA FALSE NA 0 -2.238 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:108863422 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 intron_variant -0.33198 0.05356 0.02079 0.053691 0.4858598 0.0436617 7.11572e-08 FALSE 2.26056e-05 ENSE00001382094_026 ENSE00001382094 026 4 109784430 109784599 - 45 69 56 C T 109784578 1220 22 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTTCCCCCACCCAGGCTGGTCCCT 108863273 108863443 108863421 108863422 108863422 upstr_intron -35 -0.6071429 AGGGACCAGCCTGGGTGGGGGAAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 394 250 0.9857846 0.994813 0.9902988 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.02111732 0.02460846 0.8364065 0.9674359 NA 0.02286289 NA FALSE NA 0 -2.238 NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001382094 intron_variant -0.325365 0.0452 0.01728 0.053691 0.6340525 0.0436617 7.11572e-08 FALSE 9.04225e-06 ENSE00001382094_027 ENSE00001382094 027 4 109784430 109784599 - 45 69 56 C G 109784582 1221 18 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCGCACCCAGGCTGGTCCCT 108863273 108863443 108863425 108863426 108863426 upstr_intron -39 -0.6785714 AGGGACCAGCCTGGGTGCGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 33 251 0.979658 1 0.989829 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.01499069 0.02979549 0.8364065 0.9674359 NA 0.02239309 NA FALSE NA 0 -0.037 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 19/32 1 NA CCC C,G 2.484e-05 4:108863426 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 intron_variant -0.443081 0.21768 0.01524 0.053691 0.4141275 0.0436617 7.11572e-08 FALSE 3.21798e-05 ENSE00001382094_028 ENSE00001382094 028 4 109784430 109784599 - 45 69 56 C T 109784583 1222 17 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCTACCCAGGCTGGTCCCT 108863273 108863443 108863426 108863427 108863427 upstr_intron -40 -0.6964286 AGGGACCAGCCTGGGTAGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 76 198 0.9994572 0.9998076 0.9996324 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03478997 0.02960305 0.8364065 0.9674359 NA 0.03219651 NA FALSE NA 0 -0.118 NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:108863427 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 intron_variant -0.415072 0.1881 0.00808 0.053691 0.4198905 0.0436617 7.11572e-08 FALSE 0.00110391 ENSE00001382094_030 ENSE00001382094 030 4 109784430 109784599 - 45 69 56 C A 109784585 1224 15 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCAACCAGGCTGGTCCCT 108863273 108863443 108863428 108863429 108863429 upstr_intron -42 -0.7321429 AGGGACCAGCCTGGTTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 736 245 0.9982536 0.9993762 0.9988149 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03358635 0.02917173 0.8364065 0.9674359 NA 0.03137904 NA FALSE NA 0.002 -0.761 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 19/32 1 NA ACC C,A 2.484e-05 4:108863429 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 intron_variant -0.405544 0.10395 0.00862 0.053691 0.4036022 0.0436617 7.11572e-08 FALSE 2.77539e-05 ENSE00001382094_031 ENSE00001382094 031 4 109784430 109784599 - 45 69 56 C T 109784586 1225 14 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACTCAGGCTGGTCCCT 108863273 108863443 108863429 108863430 108863430 upstr_intron -43 -0.75 AGGGACCAGCCTGAGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 20 99 1 1 1 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03533272 0.02979549 0.8364065 0.9674359 NA 0.03256411 NA FALSE NA 0.006 -2.239 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 19/32 1 NA CCC C,T 1.656e-05 4:108863430 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 intron_variant -0.142664 0.18869 0.00907 0.053691 0.6047048 0.0436617 7.11572e-08 FALSE 9.61511e-06 ENSE00001382094_032 ENSE00001382094 032 4 109784430 109784599 - 45 69 56 C T 109784587 1226 13 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACCTAGGCTGGTCCCT 108863273 108863443 108863430 108863431 108863431 upstr_intron -44 -0.7678571 AGGGACCAGCCTAGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 16 366 1 0.9966017 0.9983008 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03533272 0.02639716 0.8364065 0.9674359 NA 0.03086494 NA FALSE NA 0.088 1.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:108863431 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382094 intron_variant 0.197304 0.19294 0.05281 0.053691 0.7193303 0.0436617 7.11572e-08 FALSE 4.80381e-06 ENSE00001382094_033 ENSE00001382094 033 4 109784430 109784599 - 45 69 56 C G 109784587 1227 13 AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCACCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCCTGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACCGAGGCTGGTCCCT 108863273 108863443 108863430 108863431 108863431 upstr_intron -44 -0.7678571 AGGGACCAGCCTCGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT mutant NA NA NA NA NA 355 403 0.9981303 1 0.9990651 0.8316955 0.8411175 0.9646673 0.9702045 NA NA 0.03346302 0.02979549 0.8364065 0.9674359 NA 0.03162925 NA FALSE NA 0.088 1.393 NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001382094 intron_variant 0.010593 0.21741 0.07254 0.053691 0.5815833 0.0436617 7.11572e-08 FALSE 1.44114e-05 ENSE00001382094_BRK ENSE00001382094 BRK 4 109784430 109784599 - 45 69 56 A,G; T,T NA NA NA AATCAAGCCAGAGAATGGTTATTTTCCAGTTTAAGAATAACTCGGCTTTGGTCCGGGGGCTCCAGGTTCCCCTCGCTCACCTCTTCCAGGAGGCCCTGCTTCCCCCCGTTCACCAAGTCACAAATTGCAAAACAGGTAAATGGTCATTCCCCCCACCCAGGCTGGTCCCT 108863273 108863443 NA NA NA NA NA NA AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACTTGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGCCGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT AGGGACCAGCCTGGGTGGGGGGAATGACCATTTACCTGTTTTGCAATTTGTGACAGGGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCCCCCGGACCAAAGGTGAGTTATTCTTAAACTGGAAAATAACCATTCTCTGGCTTGATT control 46 82 0 0 0 NA NA NA NA NA 0.8316955 0.8411175 0.9646673 0.9702045 -0.8316955 -0.8411175 NA NA 0.8364065 0.9674359 -0.8364065 NA NA NA TRUE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001382094 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001382207_000 ENSE00001382207 000 17 40725276 40725445 - 53 54 63 NA NA NA NA NA TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCGGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTACAGTACTTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 NA NA NA NA NA NA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA natural 90 70 0.8764165 0.918278 0.8973473 429 178 0.788465 0.9837423 0.8861037 0.8764165 0.918278 0.788465 0.9837423 0 0 0 0 0.8973473 0.8861037 0 0 0 FALSE FALSE NA NA NA NA NA PSMC3IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMC3IP NA NA NA ENSG00000131470 ENSE00003626596 NA NA NA NA NA NA NA 0.0001925451 FALSE NA ENSE00001382207_001 ENSE00001382207 001 17 40725276 40725445 - 53 54 63 C T 40725291 1896 155 TGCCATTTTCAAAGGTACCTCCAGGGCCTGTCTCGGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTACAGTACTTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 42573272 42573273 42573273 downstr_intron 38 1.730769 GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTACCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant NA NA NA NA NA 228 295 0.9979974 0.8963758 0.9471866 0.8764165 0.918278 0.788465 0.9837423 NA NA 0.2095324 -0.08736655 0.8973473 0.8861037 NA 0.06108295 NA FALSE NA 0 -0.663 . intron_variant MODIFIER PSMC3IP HGNC 17928 ENST00000253789 6/7 1 NA GCA C,T 8.236e-06 17:42573273 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003626596 intron_variant 0.243431 0.26156 0.12544 0.160901 0.5417727 0.0517803 0.0001925451 FALSE NA ENSE00001382207_006 ENSE00001382207 006 17 40725276 40725445 - 53 54 63 G A 40725310 1901 136 TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCAGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTACAGTACTTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 42573291 42573292 42573292 downstr_intron 19 1.365385 GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCTGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant NA NA NA NA NA 352 356 0.9964765 0.9913202 0.9938984 0.8764165 0.918278 0.788465 0.9837423 NA NA 0.2080116 0.007577871 0.8973473 0.8861037 NA 0.1077947 NA FALSE NA 0 -0.139 . intron_variant MODIFIER PSMC3IP HGNC 17928 ENST00000253789 6/7 1 NA CGG G,A 2.471e-05 17:42573292 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003626596 intron_variant -0.011489 0.25328 0.13344 0.160901 0.6550326 0.0518579 0.0001925451 FALSE 1.6248e-05 ENSE00001382207_007 ENSE00001382207 007 17 40725276 40725445 - 53 54 63 C G 40725320 1902 126 TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCGGAGCTCCCAGACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTACAGTACTTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 42573301 42573302 42573302 downstr_intron 9 1.173077 GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTCTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant NA NA NA NA NA 842 19 0.8914153 1 0.9457076 0.8764165 0.918278 0.788465 0.9837423 NA NA 0.1029503 0.01625767 0.8973473 0.8861037 NA 0.05960398 NA FALSE NA 0 -0.065 . intron_variant MODIFIER PSMC3IP HGNC 17928 ENST00000253789 6/7 1 NA ACA C,G 8.236e-06 17:42573302 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003626596 intron_variant 1.190822 0.26414 0.09453 0.160901 0.6779002 0.269644 0.0001925451 FALSE 8.12315e-06 ENSE00001382207_012 ENSE00001382207 012 17 40725276 40725445 - 53 54 63 C T 40725357 1907 89 TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCGGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTATAGTACTTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 42573338 42573339 42573339 exon 26 0.4814815 GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTATAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant NA NA NA NA NA 16 1689 0.9973992 0.8668086 0.9321039 0.8764165 0.918278 0.788465 0.9837423 NA NA 0.2089342 -0.1169337 0.8973473 0.8861037 NA 0.04600024 NA FALSE NA 0.8 1.359 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:42573339 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003626596 missense_variant 2.839027 0.88681 0.82555 0.67177 0.9387268 0 0.0001925451 FALSE 4.06141e-06 ENSE00001382207_013 ENSE00001382207 013 17 40725276 40725445 - 53 54 63 C G 40725357 1908 89 TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCGGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTAGAGTACTTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 42573338 42573339 42573339 exon 26 0.4814815 GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTCTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant NA NA NA NA NA 216 23 0.9925275 1 0.9962637 0.8764165 0.918278 0.788465 0.9837423 NA NA 0.2040625 0.01625767 0.8973473 0.8861037 NA 0.1101601 NA FALSE NA 0.8 1.359 NA NA NA PSMC3IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMC3IP NA NA NA ENSG00000131470 ENSE00003626596 missense_variant 2.354668 0.89441 0.90856 0.67177 0.8389726 0 0.0001925451 FALSE 4.06141e-06 ENSE00001382207_014 ENSE00001382207 014 17 40725276 40725445 - 53 54 63 G A 40725359 1909 87 TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCGGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTACAATACTTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 42573340 42573341 42573341 exon 24 0.4444444 GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTATTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant 117 201 0.85 0.8693781 0.859689 NA NA NA NA NA 0.8764165 0.918278 0.788465 0.9837423 -0.02641647 -0.04889997 NA NA 0.8973473 0.8861037 -0.03765822 NA NA NA FALSE 1 1.852 rs138064572 synonymous_variant LOW PSMC3IP HGNC 17928 ENST00000253789 6/8 rs138064572 1 NA A:0.0002 A:0 AGT G,A 1.647e-05 17:42573341 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003626596 synonymous_variant 0.482645 0.94255 0.89645 0.67177 0.7221181 0 0.0001925451 FALSE 8.12387e-06 ENSE00001382207_015 ENSE00001382207 015 17 40725276 40725445 - 53 54 63 C A 40725362 1910 84 TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCGGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTACAGTAATTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 42573343 42573344 42573344 exon 21 0.3888889 GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAATTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant 114 185 0.9000111 0.85 0.8750055 NA NA NA NA NA 0.8764165 0.918278 0.788465 0.9837423 0.02359462 -0.06827803 NA NA 0.8973473 0.8861037 -0.0223417 NA NA NA FALSE 0.869 -0.244 . missense_variant MODERATE PSMC3IP HGNC 17928 ENST00000253789 6/8 rs534428419 1 tolerated(0.28) benign(0.323) A:0.0000 A:0 A:0 NA A:0 A:0 A:0 ACT C,A 0.0001071 17:42573344 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003626596 missense_variant 3.801236 0.91184 0.77514 0.67177 0.9715592 0 0.0001925451 FALSE 8.12295e-05 ENSE00001382207_020 ENSE00001382207 020 17 40725276 40725445 - 53 54 63 C T 40725382 1915 64 TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCGGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTACAGTACTTCTGCCTCTCTCTGTACATCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCCTCTGGGGCTCAGCC 42573257 42573427 42573363 42573364 42573364 exon 1 0.01851852 GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGATGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant 32 95 0.85 0.85 0.85 NA NA NA NA NA 0.8764165 0.918278 0.788465 0.9837423 -0.02641647 -0.06827803 NA NA 0.8973473 0.8861037 -0.04734725 NA NA NA FALSE 1 7.197 . missense_variant&splice_region_variant MODERATE PSMC3IP HGNC 17928 ENST00000253789 6/8 rs574439235 1 deleterious(0) probably_damaging(0.994) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACC C,T 2.471e-05 17:42573364 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003626596 missense_variant 6.418959 0.98304 0.99217 0.67177 0.9985604 0 0.0001925451 FALSE 4.06105e-05 ENSE00001382207_023 ENSE00001382207 023 17 40725276 40725445 - 53 54 63 C T 40725431 1918 15 TGCCATTTTCAAAGGCACCTCCAGGGCCTGTCTCGGAGCTCCCACACACTTACCATCCTCTTCCTCTTCCTCCACTCCTTACAGTACTTCTGCCTCTCTCTGTACACCTAGAAGGAAAAAGCAAGTTCCTCTAACTCCTCAGAACCACAGCAGCCTTCTGGGGCTCAGCC 42573257 42573427 42573412 42573413 42573413 upstr_intron -49 -0.7619048 GGCTGAGCCCCAGAAGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA GGCTGAGCCCCAGAGGGCTGCTGTGGTTCTGAGGAGTTAGAGGAACTTGCTTTTTCCTTCTAGGTGTACAGAGAGAGGCAGAAGTACTGTAAGGAGTGGAGGAAGAGGAAGAGGATGGTAAGTGTGTGGGAGCTCCGAGACAGGCCCTGGAGGTGCCTTTGAAAATGGCA mutant NA NA NA NA NA 63 19 0.9667766 1 0.9833883 0.8764165 0.918278 0.788465 0.9837423 NA NA 0.1783116 0.01625767 0.8973473 0.8861037 NA 0.09728466 NA FALSE NA 0 -3.369 . intron_variant MODIFIER PSMC3IP HGNC 17928 ENST00000253789 5/7 1 NA CCT C,T 8.236e-06 17:42573413 PSMC3IP HGNC Symbol protein_coding 5516 ENSG00000131470 ENSE00003626596 intron_variant 0.209325 0.18687 0.05097 0.115753 0.6648527 0.0518738 0.0001925451 FALSE 4.06095e-06 ENSE00001382509_000 ENSE00001382509 000 21 17135159 17135328 + 51 78 41 NA NA NA NA NA TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 NA NA NA NA NA NA TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC natural 13 20 1 1 1 4145 4491 0.9678428 0.9230863 0.9454646 1 1 0.9678428 0.9230863 0 0 0 0 1 0.9454646 0 0 0 FALSE FALSE NA NA NA NA NA USP25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP25 NA NA NA ENSG00000155313 ENSE00001382509 NA NA NA NA NA NA NA 0.9901305 TRUE NA ENSE00001382509_001 ENSE00001382509 001 21 17135159 17135328 + 51 78 41 G A 17135169 1 11 TATATTTTCAAAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762849 15762850 15762850 upstr_intron -41 -0.7843137 TATATTTTCAAAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 211 636 1 0.9975083 0.9987541 1 1 0.9678428 0.9230863 NA NA 0.0321572 0.07442196 1 0.9454646 NA 0.05328958 NA FALSE NA 0.001 -0.065 . intron_variant MODIFIER USP25 HGNC 12624 ENST00000400183 1/25 1 NA AGA G,A 2.471e-05 21:15762850 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 intron_variant 1.326514 0.18628 0.02816 0.078448 0.8467749 0.0455939 0.9901305 TRUE 1.84367e-05 ENSE00001382509_005 ENSE00001382509 005 21 17135159 17135328 + 51 78 41 C T 17135200 5 42 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCTTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762880 15762881 15762881 upstr_intron -10 -0.1764706 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCTTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 500 170 0.9596178 0.8294726 0.8945452 1 1 0.9678428 0.9230863 NA NA -0.008225039 -0.09361371 1 0.9454646 NA -0.05091937 NA FALSE NA 0 -1.751 . intron_variant MODIFIER USP25 HGNC 12624 ENST00000400183 1/25 rs373660931 1 NA T:0.0007 T:0 CCT C,T 9.06e-05 21:15762881 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 intron_variant 1.296947 0.16716 0.0189 0.162113 0.6768271 0.134307 0.9901305 TRUE 5.85794e-05 ENSE00001382509_006 ENSE00001382509 006 21 17135159 17135328 + 51 78 41 C T 17135202 6 44 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTTCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762882 15762883 15762883 upstr_intron -8 -0.1372549 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTTCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 329 359 1 1 1 1 1 0.9678428 0.9230863 NA NA 0.0321572 0.07691366 1 0.9454646 NA 0.05453543 NA FALSE NA 0 1.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:15762883 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 splice_region_variant 0.882112 0.17555 0.00187 0.162113 0.5611436 0.135815 0.9901305 TRUE 3.3315e-05 ENSE00001382509_008 ENSE00001382509 008 21 17135159 17135328 + 51 78 41 C G 17135220 8 62 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGAGGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762900 15762901 15762901 exon 11 0.1410256 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGAGGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 575 275 0.9982909 1 0.9991454 1 1 0.9678428 0.9230863 NA NA 0.03044807 0.07691366 1 0.9454646 NA 0.05368086 NA FALSE NA 1 5.764 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:15762901 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 missense_variant 6.382874 0.99385 0.98336 0.706298 0.9951042 0 0.9901305 TRUE 0.00036265 ENSE00001382509_009 ENSE00001382509 009 21 17135159 17135328 + 51 78 41 C T 17135220 9 62 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGATGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762900 15762901 15762901 exon 11 0.1410256 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGATGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 365 221 1 0.9956818 0.9978409 1 1 0.9678428 0.9230863 NA NA 0.0321572 0.07259542 1 0.9454646 NA 0.05237631 NA FALSE NA 1 5.764 NA NA NA USP25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP25 NA NA NA ENSG00000155313 ENSE00001382509 missense_variant 4.774194 0.99351 0.97608 0.706298 0.991005 0 0.9901305 TRUE 3.25977e-05 ENSE00001382509_010 ENSE00001382509 010 21 17135159 17135328 + 51 78 41 G A 17135227 10 69 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTAAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762907 15762908 15762908 exon 18 0.2307692 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTAAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 817 15 0.9993433 0.9865167 0.99293 1 1 0.9678428 0.9230863 NA NA 0.03150052 0.06343031 1 0.9454646 NA 0.04746542 NA FALSE NA 1 2.217 rs148656120 synonymous_variant LOW USP25 HGNC 12624 ENST00000400183 2/26 rs148656120 1 NA A:0 A:0.0001 TGA G,A 1.647e-05 21:15762908 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 synonymous_variant 1.001024 0.97116 0.85576 0.706298 0.7249855 0 0.9901305 TRUE 2.44411e-05 ENSE00001382509_012 ENSE00001382509 012 21 17135159 17135328 + 51 78 41 A G 17135233 12 75 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAGCTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762913 15762914 15762914 exon 24 0.3076923 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAGCTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 1254 407 0.9364403 1 0.9682201 1 1 0.9678428 0.9230863 NA NA -0.03140253 0.07691366 1 0.9454646 NA 0.02275557 NA FALSE NA 1 1.623 rs79517903 synonymous_variant LOW USP25 HGNC 12624 ENST00000400183 2/26 rs79517903 1 G:0.0138 G:0.0484 G:0.0058 NA G:0 G:0.001 G:0 G:0.0281 G:0.0009 AAC A,G 0.003072 21:15762914 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 synonymous_variant 0.282022 0.94868 0.26237 0.706298 0.4186049 0 0.9901305 TRUE 0.00267038 ENSE00001382509_016 ENSE00001382509 016 21 17135159 17135328 + 51 78 41 A T 17135274 16 116 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACTGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762954 15762955 15762955 exon -14 0.8333333 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACTGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 1039 240 0.9979623 0.95836 0.9781611 1 1 0.9678428 0.9230863 NA NA 0.03011947 0.03527368 1 0.9454646 NA 0.03269657 NA FALSE NA 1 8.933 . missense_variant MODERATE USP25 HGNC 12624 ENST00000400183 2/26 1 tolerated(0.2) probably_damaging(0.921) NA CAG A,T 8.236e-06 21:15762955 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 missense_variant 2.415579 0.992 0.98968 0.706298 0.9960771 0 0.9901305 TRUE 4.07584e-06 ENSE00001382509_018 ENSE00001382509 018 21 17135159 17135328 + 51 78 41 G A 17135293 18 135 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGACCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762973 15762974 15762974 downstr_intron 6 1.15 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGACCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 239 23 0.9957927 0.9966205 0.9962066 1 1 0.9678428 0.9230863 NA NA 0.0279499 0.07353419 1 0.9454646 NA 0.05074205 NA FALSE NA 0 -0.618 . splice_region_variant&intron_variant LOW USP25 HGNC 12624 ENST00000400183 2/25 1 NA GGC G,A 8.236e-06 21:15762974 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 splice_region_variant 0.162743 0.14681 0.02716 0.078448 0.6782829 0.082323 0.9901305 TRUE 4.13394e-06 ENSE00001382509_019 ENSE00001382509 019 21 17135159 17135328 + 51 78 41 C G 17135297 19 139 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTGTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 15762977 15762978 15762978 downstr_intron 10 1.25 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTGTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 206 34 1 0.9953197 0.9976598 1 1 0.9678428 0.9230863 NA NA 0.0321572 0.07223334 1 0.9454646 NA 0.05219527 NA FALSE NA 0 -0.255 . intron_variant MODIFIER USP25 HGNC 12624 ENST00000400183 2/25 rs369042618 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0014 G:0.0001 TCT C,G 0.0002142 21:15762978 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 intron_variant 0.220871 0.32683 0.10952 0.053691 0.5196535 0.082323 0.9901305 TRUE 0.000170337 ENSE00001382509_020 ENSE00001382509 020 21 17135159 17135328 + 51 78 41 A G 17135307 20 149 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGGTATACAGTTTGTGGTATATGC 15762839 15763009 15762987 15762988 15762988 downstr_intron 20 1.5 TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGGTATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC mutant NA NA NA NA NA 1235 1153 0.9970302 0.999967 0.9984986 1 1 0.9678428 0.9230863 NA NA 0.02918738 0.07688065 1 0.9454646 NA 0.05303401 NA FALSE NA 0.001 0.794 . intron_variant MODIFIER USP25 HGNC 12624 ENST00000400183 2/25 1 NA GAT A,G 8.237e-06 21:15762988 USP25 HGNC Symbol protein_coding 150044 ENSG00000155313 ENSE00001382509 intron_variant 0.044496 0.1965 0.03174 0.053691 0.3137598 0.0455939 0.9901305 TRUE 4.24657e-06 ENSE00001382509_BRK ENSE00001382509 BRK 21 17135159 17135328 + 51 78 41 A,G; T,T NA NA NA TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTTTCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGCCATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC 15762839 15763009 NA NA NA NA NA NA TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTTTCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGCCATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC TATATTTTCAGAGTTGAGAATATAATGATTTTGGGTTTTTCCTCCCTCTAGCACCAGCAGACGTTTTTGAATCAACTGAGAGAAATTACGGGGATTAATGACACCCAGATACTACAGCAAGCCTTGAAGGTATGGCCTCTGTTTTATGATATACAGTTTGTGGTATATGC control 314 26 0 0 0 336 63 0 0.005123406 0.002561703 1 1 0.9678428 0.9230863 -1 -1 -0.9678428 -0.9179629 1 0.9454646 -1 -0.9429029 0.05709713 TRUE TRUE NA NA NA NA NA USP25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP25 NA NA NA ENSG00000155313 ENSE00001382509 NA NA NA NA NA NA NA 0.9901305 TRUE NA ENSE00001382622_000 ENSE00001382622 000 4 109780771 109780940 - 41 78 51 NA NA NA NA NA ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 NA NA NA NA NA NA CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT natural 98 62 0.9827499 0.9741401 0.978445 4529 6549 0.9433763 0.9621453 0.9527608 0.9827499 0.9741401 0.9433763 0.9621453 0 0 0 0 0.978445 0.9527608 0 0 0 FALSE FALSE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001382622 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001382622_001 ENSE00001382622 001 4 109780771 109780940 - 41 78 51 G A 109780785 1165 156 ATCCTTCTCAGTGTATGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859628 108859629 108859629 downstr_intron 27 1.675 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACATACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 1307 95 0.9993369 0.9915638 0.9954504 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05596061 0.02941853 0.978445 0.9527608 NA 0.04268957 NA FALSE NA 0 -0.487 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 22/32 rs555029097 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 2.481e-05 4:108859629 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant -0.114612 0.17928 0.06352 0.074636 0.7240764 0.0518458 7.11572e-08 FALSE 2.89644e-05 ENSE00001382622_002 ENSE00001382622 002 4 109780771 109780940 - 41 78 51 G A 109780797 1166 144 ATCCTTCTCAGTGTGTGTCAGGGCAGAGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859640 108859641 108859641 downstr_intron 15 1.375 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCTCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 229 171 0.9980063 0.9997771 0.9988917 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05462998 0.03763183 0.978445 0.9527608 NA 0.0461309 NA FALSE NA 0.001 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:108859641 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant 1.112045 0.20811 0.03119 0.053691 0.6548404 0.0518458 7.11572e-08 FALSE 1.22903e-05 ENSE00001382622_003 ENSE00001382622 003 4 109780771 109780940 - 41 78 51 G T 109780797 1167 144 ATCCTTCTCAGTGTGTGTCAGGGCAGTGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859640 108859641 108859641 downstr_intron 15 1.375 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCACTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 327 1192 0.9957714 0.9956208 0.9956961 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05239513 0.03347549 0.978445 0.9527608 NA 0.04293531 NA FALSE NA 0.001 0.091 NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001382622 intron_variant 0.810809 0.21594 0.02462 0.053691 0.6545046 0.0518458 7.11572e-08 FALSE 4.09678e-06 ENSE00001382622_004 ENSE00001382622 004 4 109780771 109780940 - 41 78 51 G A 109780818 1168 123 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAAGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859661 108859662 108859662 exon -7 0.9230769 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCTTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 250 749 1 1 1 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03785469 0.978445 0.9527608 NA 0.0472392 NA FALSE NA 1 0.899 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 22/33 rs375961425 1 NA A:0 A:0.0001 AGG G,A 2.482e-05 4:108859662 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 synonymous_variant 1.388308 0.96983 0.68553 0.553676 0.7576745 0 7.11572e-08 FALSE 3.25998e-05 ENSE00001382622_005 ENSE00001382622 005 4 109780771 109780940 - 41 78 51 C T 109780820 1169 121 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGTTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859663 108859664 108859664 exon -9 0.8974359 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAACCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 36 255 1 0.9783079 0.989154 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.01616263 0.978445 0.9527608 NA 0.03639317 NA FALSE NA 1 6.258 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 1 unknown(0) NA GCT C,T 8.272e-06 4:108859664 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 5.605415 0.99026 0.96106 0.553676 0.9964501 0 7.11572e-08 FALSE 4.07438e-06 ENSE00001382622_006 ENSE00001382622 006 4 109780771 109780940 - 41 78 51 G A 109780824 1170 117 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCATGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859667 108859668 108859668 exon -13 0.8461538 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCATGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 254 311 1 1 1 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03785469 0.978445 0.9527608 NA 0.0472392 NA FALSE NA 0.009 -0.971 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 22/33 1 NA CGT G,A 8.272e-06 4:108859668 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 synonymous_variant 0.531872 0.32956 0.02619 0.553676 0.6116105 0 7.11572e-08 FALSE 2.03595e-05 ENSE00001382622_007 ENSE00001382622 007 4 109780771 109780940 - 41 78 51 G T 109780829 1171 112 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGATGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859672 108859673 108859673 exon -18 0.7820513 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACATCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 157 656 1 1 1 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03785469 0.978445 0.9527608 NA 0.0472392 NA FALSE NA 1 4.308 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 rs369025098&COSM2150750&COSM2150751 1 benign(0.007) NA T:0 T:0.0001 AGG G,T 8.273e-06 4:108859673 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 2.766448 0.97807 0.75006 0.553676 0.9667928 0 7.11572e-08 FALSE 1.2212e-05 ENSE00001382622_008 ENSE00001382622 008 4 109780771 109780940 - 41 78 51 C T 109780834 1172 107 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGTCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859677 108859678 108859678 exon -23 0.7179487 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGACAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 317 1223 0.9930845 0.9994692 0.9962769 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.04970822 0.03732393 0.978445 0.9527608 NA 0.04351608 NA FALSE NA 1 6.258 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 1 probably_damaging(0.931) NA GCC C,T 8.273e-06 4:108859678 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 5.215585 0.99026 0.96106 0.615465 0.9972326 0 7.11572e-08 FALSE 4.07097e-06 ENSE00001382622_010 ENSE00001382622 010 4 109780771 109780940 - 41 78 51 G A 109780842 1174 99 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAATCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859685 108859686 108859686 exon -31 0.6153846 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGATTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 170 1207 1 0.9999369 0.9999685 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03779161 0.978445 0.9527608 NA 0.04720766 NA FALSE NA 1 2.697 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 22/33 COSM70250 1 NA AGT G,A 1.655e-05 4:108859686 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 synonymous_variant 0.59782 0.97408 0.8369 0.615465 0.577806 0 7.11572e-08 FALSE 8.1365e-06 ENSE00001382622_011 ENSE00001382622 011 4 109780771 109780940 - 41 78 51 T C 109780843 1175 98 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGCCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859686 108859687 108859687 exon -32 0.6025641 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGGCTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 106 1700 1 0.9999552 0.9999776 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03780991 0.978445 0.9527608 NA 0.04721681 NA FALSE NA 1 6.433 rs72897032 missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 rs72897032&COSM1426309&COSM1426310 1 benign(0) C:0.0094 C:0.0356 C:0 NA C:0 C:0 C:0 C:0.0313 C:0.0001 GTC T,C 0.002714 4:108859687 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 2.92942 0.98791 0.95813 0.615465 0.9980873 0 7.11572e-08 FALSE 0.00224998 ENSE00001382622_012 ENSE00001382622 012 4 109780771 109780940 - 41 78 51 T C 109780847 1176 94 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTACGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859690 108859691 108859691 exon -36 0.5512821 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCGTAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 1771 913 0.9997208 0.9984427 0.9990817 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05634453 0.03629734 0.978445 0.9527608 NA 0.04632094 NA FALSE NA 1 6.433 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 1 benign(0.001) NA ATG T,C 8.273e-06 4:108859691 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 2.135408 0.98791 0.95813 0.615465 0.9973301 0 7.11572e-08 FALSE 4.06802e-06 ENSE00001382622_013 ENSE00001382622 013 4 109780771 109780940 - 41 78 51 T C 109780852 1177 89 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCCCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859695 108859696 108859696 exon 38 0.4871795 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGGGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 264 178 1 0.9991402 0.9995701 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03699487 0.978445 0.9527608 NA 0.04680929 NA FALSE NA 1 6.433 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 1 benign(0) NA CTC T,C 8.272e-06 4:108859696 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 3.161594 0.98791 0.95813 0.615465 0.998708 0 7.11572e-08 FALSE 2.03417e-05 ENSE00001382622_014 ENSE00001382622 014 4 109780771 109780940 - 41 78 51 G T 109780855 1178 86 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCATTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859698 108859699 108859699 exon 35 0.4487179 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCAATGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 137 106 1 1 1 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03785469 0.978445 0.9527608 NA 0.0472392 NA FALSE NA 1 7.883 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 1 benign(0.246) NA AGT G,T 8.274e-06 4:108859699 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 4.42341 0.99063 0.97931 0.615465 0.9916032 0 7.11572e-08 FALSE 4.06798e-06 ENSE00001382622_015 ENSE00001382622 015 4 109780771 109780940 - 41 78 51 C T 109780859 1179 82 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGTTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859702 108859703 108859703 exon 31 0.3974359 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAACCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 1158 64 0.8287112 0.9975208 0.913116 0.9827499 0.9741401 0.9433763 0.9621453 NA NA -0.1146651 0.03537547 0.978445 0.9527608 NA -0.03964482 NA FALSE NA 1 3.529 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 1 possibly_damaging(0.729) NA GCT C,T 1.655e-05 4:108859703 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 4.091114 0.99026 0.92326 0.615465 0.997917 0 7.11572e-08 FALSE 1.62726e-05 ENSE00001382622_016 ENSE00001382622 016 4 109780771 109780940 - 41 78 51 C T 109780868 1180 73 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATTCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859711 108859712 108859712 exon 22 0.2820513 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGAATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 347 474 0.9968941 0.9970562 0.9969752 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05351782 0.03491091 0.978445 0.9527608 NA 0.04421436 NA FALSE NA 1 6.258 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 1 possibly_damaging(0.889) NA TCC C,T 8.274e-06 4:108859712 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 5.446172 0.98999 0.96081 0.615465 0.9984693 0 7.11572e-08 FALSE 1.6276e-05 ENSE00001382622_017 ENSE00001382622 017 4 109780771 109780940 - 41 78 51 T G 109780875 1181 66 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTGTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859718 108859719 108859719 exon 15 0.1923077 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCACAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 1150 605 1 0.9683047 0.9841524 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.006159443 0.978445 0.9527608 NA 0.03139158 NA FALSE NA 1 0.535 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 1 probably_damaging(0.988) NA TTT T,G 8.275e-06 4:108859719 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 3.940737 0.97248 0.79742 0.615465 0.9955334 0 7.11572e-08 FALSE 3.66193e-05 ENSE00001382622_018 ENSE00001382622 018 4 109780771 109780940 - 41 78 51 G C 109780882 1182 59 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCACGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859725 108859726 108859726 exon 8 0.1025641 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACGTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 1299 1111 0.9987899 1 0.9993949 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05541358 0.03785469 0.978445 0.9527608 NA 0.04663414 NA FALSE NA 1 7.883 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 22/33 rs369465816 1 possibly_damaging(0.728) NA C:0 C:0.0001 AGG G,C 1.655e-05 4:108859726 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 4.571912 0.9909 0.98083 0.615465 0.996055 0 7.11572e-08 FALSE 8.14113e-06 ENSE00001382622_019 ENSE00001382622 019 4 109780771 109780940 - 41 78 51 G T 109780883 1183 58 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGTTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859726 108859727 108859727 exon 7 0.08974359 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCAACTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 1112 83 0.9432069 0.9980897 0.9706483 0.9827499 0.9741401 0.9433763 0.9621453 NA NA -0.0001693902 0.03594444 0.978445 0.9527608 NA 0.01788752 NA FALSE NA 1 7.883 NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:108859727 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 missense_variant 4.632564 0.99076 0.97938 0.615465 0.9940886 0 7.11572e-08 FALSE 4.07037e-06 ENSE00001382622_021 ENSE00001382622 021 4 109780771 109780940 - 41 78 51 G A 109780894 1185 47 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATAACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859737 108859738 108859738 upstr_intron -5 -0.07843137 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTTATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 85 506 1 0.9996873 0.9998437 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03754201 0.978445 0.9527608 NA 0.04708286 NA FALSE NA 0 0.068 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 21/32 1 NA TGA G,A 8.277e-06 4:108859738 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 splice_region_variant -0.164594 0.16595 0.01011 0.053691 0.4477554 0.0979248 7.11572e-08 FALSE 1.22227e-05 ENSE00001382622_022 ENSE00001382622 022 4 109780771 109780940 - 41 78 51 C T 109780896 1186 45 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGATAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859739 108859740 108859740 upstr_intron -7 -0.1176471 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTATCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 506 121 0.8742769 0.9723117 0.9232943 0.9827499 0.9741401 0.9433763 0.9621453 NA NA -0.06909941 0.01016638 0.978445 0.9527608 NA -0.02946651 NA FALSE NA 0 -0.293 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 21/32 1 NA ACA C,T 8.277e-06 4:108859740 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 splice_region_variant 0.196928 0.21736 0.03415 0.053691 0.2985689 0.0885668 7.11572e-08 FALSE 1.22343e-05 ENSE00001382622_023 ENSE00001382622 023 4 109780771 109780940 - 41 78 51 A C 109780899 1187 42 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAACACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859742 108859743 108859743 upstr_intron -10 -0.1764706 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTGTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 424 791 0.9967311 0.9973091 0.9970201 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05335481 0.03516384 0.978445 0.9527608 NA 0.04425932 NA FALSE NA 0.111 0.836 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 21/32 1 NA AAA A,C 8.277e-06 4:108859743 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant -0.15098 0.41858 0.1085 0.053691 0.6140094 0.0885668 7.11572e-08 FALSE 4.07687e-06 ENSE00001382622_024 ENSE00001382622 024 4 109780771 109780940 - 41 78 51 C T 109780901 1188 40 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAATCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859744 108859745 108859745 upstr_intron -12 -0.2156863 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGATTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 1723 1055 0.9745265 0.9854465 0.9799865 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.03115023 0.02330115 0.978445 0.9527608 NA 0.02722569 NA FALSE NA 0 -1.427 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:108859745 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant -0.253941 0.11208 0.00162 0.053691 0.4445817 0.0803761 7.11572e-08 FALSE 8.1604e-06 ENSE00001382622_025 ENSE00001382622 025 4 109780771 109780940 - 41 78 51 C G 109780901 1189 40 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAAGCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859744 108859745 108859745 upstr_intron -12 -0.2156863 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGCTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 120 138 1 1 1 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03785469 0.978445 0.9527608 NA 0.0472392 NA FALSE NA 0 -1.427 NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001382622 intron_variant -0.314654 0.12086 0.03455 0.053691 0.4869167 0.0803761 7.11572e-08 FALSE 4.0802e-06 ENSE00001382622_026 ENSE00001382622 026 4 109780771 109780940 - 41 78 51 A G 109780904 1190 37 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAGTCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859747 108859748 108859748 upstr_intron -15 -0.2745098 CTACATGCTAAGCTAATACCCATGATTTTCCCTTGACTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 844 183 0.9935127 1 0.9967564 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05013645 0.03785469 0.978445 0.9527608 NA 0.04399557 NA FALSE NA 0.001 0.398 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 21/32 rs376426474 1 NA G:0 G:0.0001 AAT A,G 1.655e-05 4:108859748 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant -0.019149 0.26506 0.0115 0.053691 0.5661417 0.0807929 7.11572e-08 FALSE 2.44898e-05 ENSE00001382622_027 ENSE00001382622 027 4 109780771 109780940 - 41 78 51 A T 109780914 1191 27 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAATATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 108859757 108859758 108859758 upstr_intron -25 -0.4705882 CTACATGCTAAGCTAATACCCATGATATTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 230 2914 0.9932691 0.9697988 0.9815339 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.04989279 0.0076535 0.978445 0.9527608 NA 0.02877315 NA FALSE NA 0 0.422 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 21/32 1 NA AAA A,T 8.276e-06 4:108859758 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant -0.103739 0.19236 0.07519 0.053691 0.6148001 0.044906 7.11572e-08 FALSE 4.09594e-06 ENSE00001382622_028 ENSE00001382622 028 4 109780771 109780940 - 41 78 51 G T 109780921 1192 20 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGTGTATTAGCTTAGCATGTAG 108859614 108859784 108859764 108859765 108859765 upstr_intron -32 -0.6078431 CTACATGCTAAGCTAATACACATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 231 1884 0.9915747 0.9985091 0.9950419 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.04819837 0.03636375 0.978445 0.9527608 NA 0.04228106 NA FALSE NA 0 -0.376 rs11725279 intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 21/32 rs11725279 1 T:0.1240 T:0.3033 T:0.0994 NA T:0.0298 T:0.0825 T:0.0389 T:0.266 T:0.0943 GGG G,T 0.098 4:108859765 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant 0.080596 0.22335 0.06706 0.053691 0.6778652 0.044906 7.11572e-08 FALSE 0.0960286 ENSE00001382622_029 ENSE00001382622 029 4 109780771 109780940 - 41 78 51 T C 109780923 1193 18 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGCATTAGCTTAGCATGTAG 108859614 108859784 108859766 108859767 108859767 upstr_intron -34 -0.6470588 CTACATGCTAAGCTAATGCCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 36 393 1 1 1 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.05662372 0.03785469 0.978445 0.9527608 NA 0.0472392 NA FALSE NA 0 -0.535 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 21/32 1 NA GTA T,C 1.655e-05 4:108859767 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant -0.037467 0.14352 0.02976 0.053691 0.5889604 0.044906 7.11572e-08 FALSE 5.37266e-05 ENSE00001382622_030 ENSE00001382622 030 4 109780771 109780940 - 41 78 51 T C 109780925 1194 16 ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGCCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCCTATGACAAAACCAATCAAGGGAAAATCATGGGTACTAGCTTAGCATGTAG 108859614 108859784 108859768 108859769 108859769 upstr_intron -36 -0.6862745 CTACATGCTAAGCTAGTACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT mutant NA NA NA NA NA 229 294 0.9935354 0.9751624 0.9843489 0.9827499 0.9741401 0.9433763 0.9621453 NA NA 0.0501591 0.01301706 0.978445 0.9527608 NA 0.03158808 NA FALSE NA 0.047 1.937 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 21/32 1 NA ATT T,C 8.276e-06 4:108859769 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001382622 intron_variant 0.065844 0.27258 0.29978 0.053691 0.5970776 0.044906 7.11572e-08 FALSE NA ENSE00001382622_BRK ENSE00001382622 BRK 4 109780771 109780940 - 41 78 51 A,G; T,T NA NA NA ATCCTTCTCAGTGTGTGTCAGGGCAGGGACCAGTCACTTGGCTGTAAGGCTTCGTGGAGGTTGCCGTTGTAGTCTATGATCTCAGTGGCTCCTTGATCCCCTTTTTGACCAGGTGGACCAAATGACAAAACCAATCAAGGGAAAATCATGGGTATTAGCTTAGCATGTAG 108859614 108859784 NA NA NA NA NA NA CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATTTGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGCCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT CTACATGCTAAGCTAATACCCATGATTTTCCCTTGATTGGTTTTGTCATAGGGTCCACCTGGTCAAAAAGGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAGGCAAGTGACTGGTCCCTGCCCTGACACACACTGAGAAGGAT control NA NA NA NA NA 577 835 0 0.009159847 0.004579924 0.9827499 0.9741401 0.9433763 0.9621453 NA NA -0.9433763 -0.9529855 0.978445 0.9527608 NA -0.9481809 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001382622 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001382766_000 ENSE00001382766 000 13 110855854 110856023 - 59 42 69 NA NA NA NA NA TTAATCTGCTTTCTGCAAGACAATCTTTATAGTAAGAATATGCAAGGAAAGTTATTTTTTCTTTTGTAGGGAGAAAAGGGTGAAGCAGGTCCTCCTGGCCCACCTGGAATTGTGAGTAAGAGTGCTGTCCCTGGGTCTGTGAGAGCGCTGGGGGAGGAAGGAGAGGACCC 110203506 110203676 NA NA NA NA NA NA TTAATCTGCTTTCTGCAAGACAATCTTTATAGTAAGAATATGCAAGGAAAGTTATTTTTTCTTTTGTAGGGAGAAAAGGGTGAAGCAGGTCCTCCTGGCCCACCTGGAATTGTGAGTAAGAGTGCTGTCCCTGGGTCTGTGAGAGCGCTGGGGGAGGAAGGAGAGGACCC TTAATCTGCTTTCTGCAAGACAATCTTTATAGTAAGAATATGCAAGGAAAGTTATTTTTTCTTTTGTAGGGAGAAAAGGGTGAAGCAGGTCCTCCTGGCCCACCTGGAATTGTGAGTAAGAGTGCTGTCCCTGGGTCTGTGAGAGCGCTGGGGGAGGAAGGAGAGGACCC natural 413 583 0.8257352 0.846192 0.8359636 2462 2284 0.8209548 0.848527 0.8347409 0.8257352 0.846192 0.8209548 0.848527 0 0 0 0 0.8359636 0.8347409 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001382766 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001382766_BRK ENSE00001382766 BRK 13 110855854 110856023 - 59 42 69 A,G; T,T NA NA NA TTAATCTGCTTTCTGCAAGACAATCTTTATAGTAAGAATATGCAAGGAAAGTTATTTTTTCTTTTGTTTGGAGAAAAGGGTGAAGCAGGTCCTCCTGGCCCACCTGGAATTCCGAGTAAGAGTGCTGTCCCTGGGTCTGTGAGAGCGCTGGGGGAGGAAGGAGAGGACCC 110203506 110203676 NA NA NA NA NA NA TTAATCTGCTTTCTGCAAGACAATCTTTATAGTAAGAATATGCAAGGAAAGTTATTTTTTCTTTTGTTTGGAGAAAAGGGTGAAGCAGGTCCTCCTGGCCCACCTGGAATTCCGAGTAAGAGTGCTGTCCCTGGGTCTGTGAGAGCGCTGGGGGAGGAAGGAGAGGACCC TTAATCTGCTTTCTGCAAGACAATCTTTATAGTAAGAATATGCAAGGAAAGTTATTTTTTCTTTTGTAGGGAGAAAAGGGTGAAGCAGGTCCTCCTGGCCCACCTGGAATTGTGAGTAAGAGTGCTGTCCCTGGGTCTGTGAGAGCGCTGGGGGAGGAAGGAGAGGACCC control NA NA NA NA NA 187 63 1 1 1 0.8257352 0.846192 0.8209548 0.848527 NA NA 0.1790452 0.151473 0.8359636 0.8347409 NA 0.1652591 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001382766 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001383504_000 ENSE00001383504 000 8 139647200 139647369 - 53 54 63 NA NA NA NA NA TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 NA NA NA NA NA NA TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC natural NA NA NA NA NA 1672 2575 0.9948373 0.971587 0.9832121 NA NA 0.9948373 0.971587 NA NA 0 0 NA 0.9832121 NA 0 NA FALSE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003472401 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001383504_001 ENSE00001383504 001 8 139647200 139647369 - 53 54 63 A G 139647215 2404 155 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTCGACATTTGAATGCAC 138634956 138635126 138634971 138634972 138634972 downstr_intron 38 1.730769 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTCGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 64 387 0.8199183 0.9999016 0.90991 NA NA 0.9948373 0.971587 NA NA -0.174919 0.02831462 NA 0.9832121 NA -0.07330217 NA FALSE NA 0.009 1.02 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA CAA A,G 8.237e-06 8:138634972 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant 0.256467 0.2177 0.12191 0.061011 0.8132176 0.0455939 8.258326e-32 FALSE NA ENSE00001383504_002 ENSE00001383504 002 8 139647200 139647369 - 53 54 63 A C 139647216 2405 154 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCGTGACATTTGAATGCAC 138634956 138635126 138634972 138634973 138634973 downstr_intron 37 1.711538 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCGTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 206 463 1 0.9849861 0.992493 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.01339911 NA 0.9832121 NA 0.009280918 NA FALSE NA 0.006 0.617 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA AAG A,C 4.119e-05 8:138634973 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant 0.065719 0.15593 0.0879 0.061011 0.7680192 0.0455939 8.258326e-32 FALSE 6.63042e-05 ENSE00001383504_003 ENSE00001383504 003 8 139647200 139647369 - 53 54 63 G A 139647217 2406 153 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCTTTGACATTTGAATGCAC 138634956 138635126 138634973 138634974 138634974 downstr_intron 36 1.692308 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCTTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 78 390 1 1 1 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.02841302 NA 0.9832121 NA 0.01678787 NA FALSE NA 0 -0.196 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA AGG G,A 1.648e-05 8:138634974 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant 0.087668 0.10691 0.00665 0.061011 0.674497 0.0455939 8.258326e-32 FALSE 8.28178e-06 ENSE00001383504_004 ENSE00001383504 004 8 139647200 139647369 - 53 54 63 C T 139647219 2407 151 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGACCTTGACATTTGAATGCAC 138634956 138635126 138634975 138634976 138634976 downstr_intron 34 1.653846 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGACCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 70 1193 1 0.998805 0.9994025 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.02721804 NA 0.9832121 NA 0.01619038 NA FALSE NA 0 -2.869 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA GCC C,T 8.238e-06 8:138634976 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant 0.091611 0.12439 0.01327 0.061011 0.6494965 0.0455939 8.258326e-32 FALSE NA ENSE00001383504_005 ENSE00001383504 005 8 139647200 139647369 - 53 54 63 C T 139647220 2408 150 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCAGCCTTGACATTTGAATGCAC 138634956 138635126 138634976 138634977 138634977 downstr_intron 33 1.634615 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCAGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 1398 259 0.9977366 1 0.9988683 NA NA 0.9948373 0.971587 NA NA 0.002899372 0.02841302 NA 0.9832121 NA 0.0156562 NA FALSE NA 0 0.473 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 rs373497089 1 NA T:0 T:0.0001 CCG C,T 2.471e-05 8:138634977 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant 0.166117 0.15206 0.03384 0.061011 0.5684075 0.0455939 8.258326e-32 FALSE 2.48153e-05 ENSE00001383504_006 ENSE00001383504 006 8 139647200 139647369 - 53 54 63 G A 139647221 2409 149 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTTGGCCTTGACATTTGAATGCAC 138634956 138635126 138634977 138634978 138634978 downstr_intron 32 1.615385 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTTGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 620 1710 0.9958017 1 0.9979008 NA NA 0.9948373 0.971587 NA NA 0.000964405 0.02841302 NA 0.9832121 NA 0.01468871 NA FALSE NA 0 -0.417 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 rs377450366 1 NA A:0 A:0.0001 CGA A,A 0.0001236 8:138634978 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant -0.304017 0.05001 0.00025 0.061011 0.3643894 0.0455939 8.258326e-32 FALSE 8.67726e-05 ENSE00001383504_009 ENSE00001383504 009 8 139647200 139647369 - 53 54 63 G A 139647257 2412 113 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCTACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635013 138635014 138635014 exon -5 0.9259259 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCTACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 137 112 1 1 1 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.02841302 NA 0.9832121 NA 0.01678787 NA FALSE NA 1 3.327 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 49/65 COSM1733255 1 unknown(0) NA TGG G,A 1.647e-05 8:138635014 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 missense_variant 2.507977 0.98173 0.88524 0.638212 0.3110948 0 8.258326e-32 FALSE 8.19578e-06 ENSE00001383504_010 ENSE00001383504 010 8 139647200 139647369 - 53 54 63 A G 139647262 2413 108 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCCGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635018 138635019 138635019 exon -10 0.8333333 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCCGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 1079 181 0.990052 1 0.995026 NA NA 0.9948373 0.971587 NA NA -0.004785245 0.02841302 NA 0.9832121 NA 0.01181389 NA FALSE NA 0.171 -1.335 rs10091563 synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 49/65 rs10091563 1 A:0.2901 G:0.4402 G:0.7421 NA G:0.8998 G:0.8529 G:0.7086 G:0.5064 G:0.8516 CAG A,G 0.791 8:138635019 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 synonymous_variant -0.186038 0.93695 0.05336 0.638212 0.6815745 0 8.258326e-32 FALSE 0.79834 ENSE00001383504_011 ENSE00001383504 011 8 139647200 139647369 - 53 54 63 G T 139647265 2414 105 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAAACCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635021 138635022 138635022 exon -13 0.7777778 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAAACCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 675 23 0.9991433 1 0.9995717 NA NA 0.9948373 0.971587 NA NA 0.004306032 0.02841302 NA 0.9832121 NA 0.01635953 NA FALSE NA 0.994 1.028 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 49/65 rs568930608 1 unknown(0) NA GGT G,T 8.237e-06 8:138635022 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 missense_variant 1.684633 0.93541 0.73787 0.638212 0.2358809 0 8.258326e-32 FALSE NA ENSE00001383504_012 ENSE00001383504 012 8 139647200 139647369 - 53 54 63 G A 139647276 2415 94 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGTCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635032 138635033 138635033 exon -24 0.5740741 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGTCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 30 110 1 0.9985595 0.9992798 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.02697254 NA 0.9832121 NA 0.01606763 NA FALSE NA 0.999 3.233 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 49/65 1 unknown(0) NA GGC G,A 2.471e-05 8:138635033 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 missense_variant 2.436006 0.9795 0.8669 0.638212 0.9807721 0 8.258326e-32 FALSE NA ENSE00001383504_013 ENSE00001383504 013 8 139647200 139647369 - 53 54 63 G A 139647283 2416 87 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTTATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635039 138635040 138635040 exon 24 0.4444444 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTTATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 434 59 0.9943016 1 0.9971508 NA NA 0.9948373 0.971587 NA NA -0.0005357032 0.02841302 NA 0.9832121 NA 0.01393866 NA FALSE NA 1 2.42 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 49/65 rs572304297 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGA G,A 8.237e-06 8:138635040 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 synonymous_variant 1.059108 0.97133 0.80736 0.638212 0.6849747 0 8.258326e-32 FALSE NA ENSE00001383504_014 ENSE00001383504 014 8 139647200 139647369 - 53 54 63 G C 139647290 2417 80 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCGAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635046 138635047 138635047 exon 17 0.3148148 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCGAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 581 271 1 1 1 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.02841302 NA 0.9832121 NA 0.01678787 NA FALSE NA 1 4.848 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 49/65 1 unknown(0) NA TGG G,C 8.237e-06 8:138635047 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 missense_variant 2.501663 0.98265 0.93628 0.638212 0.9841451 0 8.258326e-32 FALSE 8.21227e-06 ENSE00001383504_015 ENSE00001383504 015 8 139647200 139647369 - 53 54 63 G T 139647291 2418 79 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTACAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635047 138635048 138635048 exon 16 0.2962963 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTACAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 83 311 0.9789095 1 0.9894548 NA NA 0.9948373 0.971587 NA NA -0.01592777 0.02841302 NA 0.9832121 NA 0.006242627 NA FALSE NA 1 4.848 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 49/65 1 unknown(0) NA GGA G,T 8.237e-06 8:138635048 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 missense_variant 2.317838 0.98233 0.933 0.638212 0.9842096 0 8.258326e-32 FALSE 8.21038e-06 ENSE00001383504_016 ENSE00001383504 016 8 139647200 139647369 - 53 54 63 T C 139647302 2419 68 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCGTCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635058 138635059 138635059 exon 5 0.09259259 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCGTCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 109 39 1 1 1 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.02841302 NA 0.9832121 NA 0.01678787 NA FALSE NA 1 1.698 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 49/65 1 unknown(0) NA ATG T,C 8.238e-06 8:138635059 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 missense_variant 1.346251 0.96662 0.70466 0.638212 0.6913739 0 8.258326e-32 FALSE NA ENSE00001383504_020 ENSE00001383504 020 8 139647200 139647369 - 53 54 63 C A 139647325 2423 45 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTTCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635081 138635082 138635082 upstr_intron -19 -0.2857143 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTTCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 56 339 0.9955055 1 0.9977528 NA NA 0.9948373 0.971587 NA NA 0.0006682449 0.02841302 NA 0.9832121 NA 0.01454063 NA FALSE NA 0 -0.034 rs78997462 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 48/64 rs78997462 1 A:0.0034 A:0.0015 A:0.0043 NA A:0 A:0.0109 A:0.001 A:0.0023 A:0.0167 GCA C,A 0.012 8:138635082 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant -0.247025 0.12901 0.03904 0.061011 0.3054975 0.110422 8.258326e-32 FALSE 0.0115004 ENSE00001383504_021 ENSE00001383504 021 8 139647200 139647369 - 53 54 63 T C 139647328 2424 42 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAGTTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635084 138635085 138635085 upstr_intron -22 -0.3333333 TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAGTTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 588 502 1 0.9971448 0.9985724 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.02555778 NA 0.9832121 NA 0.01536025 NA FALSE NA 0.048 1.345 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 48/64 rs554136763 1 NA ATT T,C 0.0002142 8:138635085 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant -0.040105 0.16855 0.15502 0.061011 0.6411563 0.110422 8.258326e-32 FALSE 0.000265383 ENSE00001383504_022 ENSE00001383504 022 8 139647200 139647369 - 53 54 63 C T 139647341 2425 29 TTTGCACAAAGTAAAAAGTATTTTTCAAATCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635097 138635098 138635098 upstr_intron -35 -0.5396825 TTTGCACAAAGTAAAAAGTATTTTTCAAATCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 474 653 1 0.9984034 0.9992017 NA NA 0.9948373 0.971587 NA NA 0.005162725 0.02681645 NA 0.9832121 NA 0.01598959 NA FALSE NA 0 -0.88 rs189533260 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 48/64 rs189533260 1 T:0.0006 T:0 T:0.0014 NA T:0 T:0 T:0.002 T:0.0005 T:0.0019 ACT C,T 0.001624 8:138635098 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant 0.026679 0.14613 0.01891 0.061011 0.2611472 0.0431032 8.258326e-32 FALSE 0.00162793 ENSE00001383504_023 ENSE00001383504 023 8 139647200 139647369 - 53 54 63 T C 139647350 2426 20 TTTGCACAAAGTAAAAAGTGTTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 138635106 138635107 138635107 upstr_intron -44 -0.6825397 TTTGCACAAAGTAAAAAGTGTTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC mutant NA NA NA NA NA 65 486 0.9941588 0.9883174 0.9912381 NA NA 0.9948373 0.971587 NA NA -0.0006785202 0.01673037 NA 0.9832121 NA 0.008025926 NA FALSE NA 0 0.042 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 48/64 1 NA ATA T,C 8.251e-06 8:138635107 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003472401 intron_variant -0.03653 0.15114 0.02653 0.061011 0.6646566 0.0431032 8.258326e-32 FALSE 9.9948e-06 ENSE00001383504_BRK ENSE00001383504 BRK 8 139647200 139647369 - 53 54 63 A,G; T,T NA NA NA TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTTTGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCACCAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC 138634956 138635126 NA NA NA NA NA NA TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTTTGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCACCAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC TTTGCACAAAGTAAAAAGTATTTTTCAAGTCATTTTAAAGAATTGCATCTTGTGTTTTCCTAGGGTCATCCTGGAGTTCCAGGTTTCATGGGGCCCCCAGGGAACCCTGGGCCACCAGTAAGTAATCATCTTTAATCCCCTCCTCTTTCGGCCTTGACATTTGAATGCAC control NA NA NA NA NA 226 386 0.008093442 0 0.004046721 NA NA 0.9948373 0.971587 NA NA -0.9867438 -0.971587 NA 0.9832121 NA -0.9791654 NA TRUE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003472401 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001384077_000 ENSE00001384077 000 13 110858958 110859127 - 54 51 65 NA NA NA NA NA TTCCGCATGGAAGGAGAATTGTTTTATGATAAAAGGACTTTGGAAAGCACTTACTCTGGGTCCTGGTTTTCCGGGTTCACCTTTCTCTCCGACCCCTGGCATCCCCTTAAAGGAATAAAAAGACAAAGAGATTTATTCGTCTATTTAAGCAAAATTTAAATTAGATAGAT 110206610 110206780 NA NA NA NA NA NA ATCTATCTAATTTAAATTTTGCTTAAATAGACGAATAAATCTCTTTGTCTTTTTATTCCTTTAAGGGGATGCCAGGGGTCGGAGAGAAAGGTGAACCCGGAAAACCAGGACCCAGAGTAAGTGCTTTCCAAAGTCCTTTTATCATAAAACAATTCTCCTTCCATGCGGAA ATCTATCTAATTTAAATTTTGCTTAAATAGACGAATAAATCTCTTTGTCTTTTTATTCCTTTAAGGGGATGCCAGGGGTCGGAGAGAAAGGTGAACCCGGAAAACCAGGACCCAGAGTAAGTGCTTTCCAAAGTCCTTTTATCATAAAACAATTCTCCTTCCATGCGGAA natural NA NA NA NA NA 791 2685 0.9916828 0.9127715 0.9522272 NA NA 0.9916828 0.9127715 NA NA 0 0 NA 0.9522272 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001384077 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001384956_000 ENSE00001384956 000 15 65226295 65226464 + 41 99 30 NA NA NA NA NA GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 NA NA NA NA NA NA GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC natural 160 173 0.9776375 0.9865745 0.982106 3493 3302 0.9332198 0.9919636 0.9625917 0.9776375 0.9865745 0.9332198 0.9919636 0 0 0 0 0.982106 0.9625917 0 0 0 FALSE FALSE NA NA NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00001384956 NA NA NA NA NA NA NA 1.161072e-15 FALSE NA ENSE00001384956_001 ENSE00001384956 001 15 65226295 65226464 + 41 99 30 T A 65226310 1457 16 GGGGTCCTTGTGATAACGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934109 64934110 64934110 upstr_intron -26 -0.6097561 GGGGTCCTTGTGATAACGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant 32 93 1 0.986045 0.9930225 371 40 1 1 1 0.9776375 0.9865745 0.9332198 0.9919636 0.02236255 -0.0005294649 0.06678025 0.008036398 0.982106 0.9625917 0.01091654 0.03740832 0.02649178 FALSE FALSE 0 -0.753 rs58089610 intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 8/14 rs58089610 1 A:0.1030 A:0.3782 A:0.0231 NA A:0 A:0 A:0 A:0.312 A:0.0014 ATC T,A 0.029 15:64934110 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 intron_variant 0.269266 0.11676 0.02988 0.078448 0.6348023 0.046875 1.161072e-15 FALSE 0.0226064 ENSE00001384956_002 ENSE00001384956 002 15 65226295 65226464 + 41 99 30 C T 65226311 1458 17 GGGGTCCTTGTGATATTGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934110 64934111 64934111 upstr_intron -25 -0.5853659 GGGGTCCTTGTGATATTGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 489 13 0.9959047 0.9970178 0.9964612 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06268494 0.005054167 0.982106 0.9625917 NA 0.03386955 NA FALSE NA 0 -0.447 rs187375018 intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 8/14 rs187375018 1 T:0.0004 T:0.0008 T:0 NA T:0 T:0.001 T:0 T:0.0009 T:0.0033 TCG T,T 0.001145 15:64934111 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 intron_variant 0.038965 0.09883 6e-04 0.078448 0.563219 0.046875 1.161072e-15 FALSE 0.00117782 ENSE00001384956_003 ENSE00001384956 003 15 65226295 65226464 + 41 99 30 G A 65226312 1459 18 GGGGTCCTTGTGATATCACATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934111 64934112 64934112 upstr_intron -24 -0.5609756 GGGGTCCTTGTGATATCACATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant 49 20 0.8658997 0.8501654 0.8580326 14 164 1 0.9866724 0.9933362 0.9776375 0.9865745 0.9332198 0.9919636 -0.1117377 -0.1364091 0.06678025 -0.00529122 0.982106 0.9625917 -0.1240734 0.03074451 0.1548179 FALSE FALSE 0.003 1.409 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 8/14 rs373910030 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 CGC G,A 1.647e-05 15:64934112 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 intron_variant 0.084096 0.2315 0.10493 0.078448 0.5669759 0.046875 1.161072e-15 FALSE 2.49677e-05 ENSE00001384956_004 ENSE00001384956 004 15 65226295 65226464 + 41 99 30 T C 65226315 1460 21 GGGGTCCTTGTGATATCGCACTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934114 64934115 64934115 upstr_intron -21 -0.4878049 GGGGTCCTTGTGATATCGCACTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant 63 16 0.8844809 0.9713666 0.9279237 NA NA NA NA NA 0.9776375 0.9865745 0.9332198 0.9919636 -0.09315657 -0.0152079 NA NA 0.982106 0.9625917 -0.05418223 NA NA NA FALSE 0 -1.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64934115 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 non_coding_transcript_exon_variant -0.316806 0.10314 0.00564 0.078448 0.2643036 0.046875 1.161072e-15 FALSE 2.48542e-05 ENSE00001384956_006 ENSE00001384956 006 15 65226295 65226464 + 41 99 30 C T 65226328 1462 34 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTTCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934127 64934128 64934128 upstr_intron -8 -0.1707317 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTTCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant 67 63 0.9196777 0.9396019 0.9296398 NA NA NA NA NA 0.9776375 0.9865745 0.9332198 0.9919636 -0.05795976 -0.04697257 NA NA 0.982106 0.9625917 -0.05246617 NA NA NA FALSE 0.006 0.013 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64934128 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 splice_region_variant 0.254144 0.1477 0.01057 0.078448 0.7000444 0.0870264 1.161072e-15 FALSE 2.47427e-05 ENSE00001384956_007 ENSE00001384956 007 15 65226295 65226464 + 41 99 30 C G 65226328 1463 34 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTGCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934127 64934128 64934128 upstr_intron -8 -0.1707317 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTGCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 87 225 1 0.9938516 0.9969258 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.001888019 0.982106 0.9625917 NA 0.03433413 NA FALSE NA 0.006 0.013 NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00001384956 splice_region_variant -0.009263 0.16625 0.04293 0.078448 0.5569522 0.0870264 1.161072e-15 FALSE 4.12378e-06 ENSE00001384956_008 ENSE00001384956 008 15 65226295 65226464 + 41 99 30 C G 65226332 1464 38 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTGTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934131 64934132 64934132 upstr_intron -4 -0.07317073 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTGTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 13 24 1 0.9356434 0.9678217 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 -0.05632024 0.982106 0.9625917 NA 0.005230004 NA FALSE NA 0.922 0.698 . splice_region_variant&intron_variant LOW ANKDD1A HGNC 28002 ENST00000395720 8/14 rs375295537 1 NA G:0 G:0.0001 TCT C,G 1.647e-05 15:64934132 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 splice_region_variant 0.5366 0.80526 0.08056 0.078448 0.4784502 0.636144 1.161072e-15 FALSE 8.24083e-06 ENSE00001384956_009 ENSE00001384956 009 15 65226295 65226464 + 41 99 30 G C 65226335 1465 41 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTACAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934134 64934135 64934135 upstr_intron -1 0 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTACAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant 115 90 0 0 0 NA NA NA NA NA 0.9776375 0.9865745 0.9332198 0.9919636 -0.9776375 -0.9865745 NA NA 0.982106 0.9625917 -0.982106 NA NA NA TRUE 1 5.539 . splice_acceptor_variant HIGH ANKDD1A HGNC 28002 ENST00000395720 8/14 1 NA HC AGA G,C 4.118e-05 15:64934135 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 splice_acceptor_variant 2.781175 0.97449 0.91813 0.078448 0.9849479 0.942031 1.161072e-15 FALSE 4.93673e-05 ENSE00001384956_013 ENSE00001384956 013 15 65226295 65226464 + 41 99 30 C T 65226351 1469 57 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCTTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934150 64934151 64934151 exon 16 0.1616162 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCTTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 28 387 1 0.9995911 0.9997956 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.007627517 0.982106 0.9625917 NA 0.03720388 NA FALSE NA 1 2.055 rs143247540 missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 9/15 rs143247540 1 benign(0.299) NA T:0.0005 T:0 CCT C,T 8.237e-06 15:64934151 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 missense_variant 3.342131 0.96234 0.70341 0.615465 0.9955876 0 1.161072e-15 FALSE 4.09319e-06 ENSE00001384956_016 ENSE00001384956 016 15 65226295 65226464 + 41 99 30 A G 65226358 1472 64 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTGTGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934157 64934158 64934158 exon 23 0.2323232 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTGTGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 37 65 0.9958321 1 0.9979161 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06261235 0.008036398 0.982106 0.9625917 NA 0.03532438 NA FALSE NA 0.996 3.516 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 9/15 COSM4056251 1 probably_damaging(0.959) NA TAT A,G 0.0001071 15:64934158 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 missense_variant 3.361714 0.97278 0.83606 0.615465 0.9955106 0 1.161072e-15 FALSE 6.93759e-05 ENSE00001384956_017 ENSE00001384956 017 15 65226295 65226464 + 41 99 30 G T 65226360 1473 66 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATTCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934159 64934160 64934160 exon 25 0.2525253 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATTCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 50 36 1 1 1 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.008036398 0.982106 0.9625917 NA 0.03740832 NA FALSE NA 0.985 3.693 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 9/15 1 probably_damaging(0.967) NA TGC G,T 3.295e-05 15:64934160 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 missense_variant 3.346101 0.95669 0.71401 0.615465 0.9925717 0 1.161072e-15 FALSE 1.63305e-05 ENSE00001384956_023 ENSE00001384956 023 15 65226295 65226464 + 41 99 30 G A 65226377 1479 83 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCAGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934176 64934177 64934177 exon 42 0.4242424 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCAGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 38 244 1 1 1 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.008036398 0.982106 0.9625917 NA 0.03740832 NA FALSE NA 0 -3.304 NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64934177 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 synonymous_variant 0.483249 0.08465 0.00646 0.615465 0.8759555 0 1.161072e-15 FALSE 0.000273807 ENSE00001384956_025 ENSE00001384956 025 15 65226295 65226464 + 41 99 30 G A 65226386 1481 92 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTATCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934185 64934186 64934186 exon -49 0.5151515 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTATCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant 137 197 0.8822759 0.85 0.8661379 NA NA NA NA NA 0.9776375 0.9865745 0.9332198 0.9919636 -0.09536158 -0.1365745 NA NA 0.982106 0.9625917 -0.115968 NA NA NA FALSE 0.799 0.238 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 9/15 rs551846281 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGT G,A 8.236e-06 15:64934186 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 synonymous_variant 0.189475 0.25871 0.2638 0.615465 0.6824146 0 1.161072e-15 FALSE 8.16267e-06 ENSE00001384956_027 ENSE00001384956 027 15 65226295 65226464 + 41 99 30 T C 65226389 1483 95 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCCCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934188 64934189 64934189 exon -46 0.5454545 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCCCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant 22 37 0.9965276 0.9777536 0.9871406 17 145 0.9535288 1 0.9767644 0.9776375 0.9865745 0.9332198 0.9919636 0.01889012 -0.008820884 0.02030907 0.008036398 0.982106 0.9625917 0.005034616 0.01417273 0.009138116 FALSE FALSE 0.808 1.115 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 9/15 1 NA CTC T,C 8.236e-06 15:64934189 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 synonymous_variant -0.855523 0.12673 0.01812 0.615465 0.5236661 0 1.161072e-15 FALSE 4.0809e-06 ENSE00001384956_032 ENSE00001384956 032 15 65226295 65226464 + 41 99 30 C G 65226396 1488 102 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCGTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934195 64934196 64934196 exon -39 0.6161616 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCGTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant 24 12 0.997346 1 0.998673 NA NA NA NA NA 0.9776375 0.9865745 0.9332198 0.9919636 0.01970855 0.0134255 NA NA 0.982106 0.9625917 0.01656702 NA NA NA FALSE 0.997 2.823 rs138584260 missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 9/15 rs138584260 1 benign(0.205) NA G:0.0002 G:0 CCT C,G 8.236e-06 15:64934196 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 missense_variant 1.783362 0.28549 0.58737 0.615465 0.9800999 0 1.161072e-15 FALSE 8.16387e-06 ENSE00001384956_033 ENSE00001384956 033 15 65226295 65226464 + 41 99 30 C T 65226398 1489 104 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTTATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934197 64934198 64934198 exon -37 0.6363636 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTTATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 84 736 1 0.9964579 0.998229 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.00449433 0.982106 0.9625917 NA 0.03563729 NA FALSE NA 0.004 -0.311 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 9/15 rs539274587 1 NA TCA C,T 6.589e-05 15:64934198 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 synonymous_variant 0.54807 0.14561 0.0115 0.615465 0.8153811 0 1.161072e-15 FALSE 4.48785e-05 ENSE00001384956_035 ENSE00001384956 035 15 65226295 65226464 + 41 99 30 C T 65226404 1491 110 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCATGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934203 64934204 64934204 exon -31 0.6969697 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCATGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 41 149 1 1 1 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.008036398 0.982106 0.9625917 NA 0.03740832 NA FALSE NA 0 -3.657 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 9/15 1 NA ACG C,T 2.471e-05 15:64934204 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 synonymous_variant 0.780448 0.0429 0.00171 0.615465 0.8930804 0 1.161072e-15 FALSE 2.85719e-05 ENSE00001384956_038 ENSE00001384956 038 15 65226295 65226464 + 41 99 30 C T 65226416 1494 122 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGTGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934215 64934216 64934216 exon -19 0.8181818 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGTGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 183 274 0.9997749 0.9694814 0.9846281 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06655515 -0.0224822 0.982106 0.9625917 NA 0.02203647 NA FALSE NA 0 -0.256 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 9/15 rs200734202 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0001 GCG C,T 0.0002059 15:64934216 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 synonymous_variant 1.406641 0.47495 0.02769 0.615465 0.7293344 0 1.161072e-15 FALSE 0.000171785 ENSE00001384956_040 ENSE00001384956 040 15 65226295 65226464 + 41 99 30 A G 65226421 1496 127 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAGCGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934220 64934221 64934221 exon -14 0.8686869 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAGCGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 22 31 1 1 1 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.008036398 0.982106 0.9625917 NA 0.03740832 NA FALSE NA 0.105 3.691 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 9/15 rs372911545 1 benign(0.121) NA G:0.0002 G:0 AAC A,G 8.236e-06 15:64934221 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 missense_variant 0.996889 0.49852 0.21117 0.615465 0.9813712 0 1.161072e-15 FALSE 1.22576e-05 ENSE00001384956_041 ENSE00001384956 041 15 65226295 65226464 + 41 99 30 C T 65226422 1497 128 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAATGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934221 64934222 64934222 exon -13 0.8787879 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAATGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 16 93 0.8462947 1 0.9231474 0.9776375 0.9865745 0.9332198 0.9919636 NA NA -0.08692502 0.008036398 0.982106 0.9625917 NA -0.03944431 NA FALSE NA 0 -3.149 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 9/15 1 NA ACG C,T 1.647e-05 15:64934222 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 synonymous_variant 1.138734 0.12387 0.00272 0.615465 0.8906878 0 1.161072e-15 FALSE 8.17461e-06 ENSE00001384956_043 ENSE00001384956 043 15 65226295 65226464 + 41 99 30 T C 65226434 1499 140 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCACGTAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 64934233 64934234 64934234 exon -1 1 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCACGTAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 12 410 1 0.9980266 0.9990133 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.006063012 0.982106 0.9625917 NA 0.03642163 NA FALSE NA 0.015 -1.905 . splice_region_variant&synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 9/15 1 NA ATG T,C 8.236e-06 15:64934234 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 splice_region_variant -0.46894 0.90108 0.02639 0.615465 0.5622286 0 1.161072e-15 FALSE 8.17949e-06 ENSE00001384956_047 ENSE00001384956 047 15 65226295 65226464 + 41 99 30 T C 65226451 1503 157 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGCGTTGAAGGGGGTC 64934094 64934264 64934250 64934251 64934251 downstr_intron 17 1.586207 GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGCGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC mutant NA NA NA NA NA 20 12 1 1 1 0.9776375 0.9865745 0.9332198 0.9919636 NA NA 0.06678025 0.008036398 0.982106 0.9625917 NA 0.03740832 NA FALSE NA 0 -0.023 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 9/14 rs534556703 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTG T,C 7.413e-05 15:64934251 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00001384956 intron_variant -0.034154 0.13601 0.01615 0.078448 0.3003961 0.088125 1.161072e-15 FALSE 0.000115829 ENSE00001384956_BRK ENSE00001384956 BRK 15 65226295 65226464 + 41 99 30 A,G; T,T NA NA NA GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTTTAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATCCAAGTATGGTGCGAGTGTTGAAGGGGGTC 64934094 64934264 NA NA NA NA NA NA GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTTTAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATCCAAGTATGGTGCGAGTGTTGAAGGGGGTC GGGGTCCTTGTGATATCGCATTGATGCCTGTTTCCTTCTAGAAAAACCTAAGCTGCCTTCACTATGCAGCCCTCAGTGGCTCGGAGGATGTGTCTCGGGTCCTCATCCACGCAGGAGGCTGCGCCAACGTGGTTGATCATGTAAGTATGGTGCGAGTGTTGAAGGGGGTC control 259 220 0 0 0 NA NA NA NA NA 0.9776375 0.9865745 0.9332198 0.9919636 -0.9776375 -0.9865745 NA NA 0.982106 0.9625917 -0.982106 NA NA NA TRUE NA NA NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00001384956 NA NA NA NA NA NA NA 1.161072e-15 FALSE NA ENSE00001385554_000 ENSE00001385554 000 22 21947108 21947277 + 42 96 32 NA NA NA NA NA TTTCCCCTATTTGACACCCCTTTATGCTTTGTCAATCAACAGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGTGAGTATTGAACACTTCCACTTCCTACCAGA 21592818 21592988 NA NA NA NA NA NA TTTCCCCTATTTGACACCCCTTTATGCTTTGTCAATCAACAGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGTGAGTATTGAACACTTCCACTTCCTACCAGA TTTCCCCTATTTGACACCCCTTTATGCTTTGTCAATCAACAGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGTGAGTATTGAACACTTCCACTTCCTACCAGA natural NA NA NA NA NA 150 747 0.99277 0.9718407 0.9823054 NA NA 0.99277 0.9718407 NA NA 0 0 NA 0.9823054 NA 0 NA FALSE NA NA NA NA NA NA UBE2L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE2L3 NA NA NA ENSG00000185651 ENSE00003653912 NA NA NA NA NA NA NA 0.7787197 FALSE NA ENSE00001385554_001 ENSE00001385554 001 22 21947108 21947277 + 42 96 32 C G 21947126 198 19 TTTCCCCTATTTGACACCGCTTTATGCTTTGTCAATCAACAGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGTGAGTATTGAACACTTCCACTTCCTACCAGA 21592818 21592988 21592836 21592837 21592837 upstr_intron -24 -0.547619 TTTCCCCTATTTGACACCGCTTTATGCTTTGTCAATCAACAGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGTGAGTATTGAACACTTCCACTTCCTACCAGA TTTCCCCTATTTGACACCCCTTTATGCTTTGTCAATCAACAGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGTGAGTATTGAACACTTCCACTTCCTACCAGA mutant NA NA NA NA NA 22 41 0.8 1 0.9 NA NA 0.99277 0.9718407 NA NA -0.19277 0.0281593 NA 0.9823054 NA -0.08230537 NA FALSE NA 1 1.535 rs182804123 intron_variant MODIFIER UBE2L3 HGNC 12488 ENST00000545681 1/2 rs182804123 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CCC C,G 8.236e-06 22:21592837 UBE2L3 HGNC Symbol protein_coding 74587 ENSG00000185651 ENSE00003653912 intron_variant 1.960924 0.94418 0.89838 0.091178 0.7148509 0.976342 0.7787197 FALSE NA ENSE00001386847_000 ENSE00001386847 000 19 40511956 40512125 + 47 87 36 NA NA NA NA NA AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 NA NA NA NA NA NA AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT natural 451 389 0.7998047 0.8201089 0.8099568 6614 6049 0.7484869 0.771831 0.760159 0.7998047 0.8201089 0.7484869 0.771831 0 0 0 0 0.8099568 0.760159 0 0 0 FALSE FALSE NA NA NA NA NA ZNF546 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF546 NA NA NA ENSG00000187187 ENSE00003563175 NA NA NA NA NA NA NA 2.544711e-10 FALSE NA ENSE00001386847_001 ENSE00001386847 001 19 40511956 40512125 + 47 87 36 C A 40511966 2411 11 AGTTTTGACAAACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006058 40006059 40006059 upstr_intron -37 -0.7659574 AGTTTTGACAAACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 1844 1846 0.9559763 0.9476 0.9517882 0.7998047 0.8201089 0.7484869 0.771831 NA NA 0.2074895 0.175769 0.8099568 0.760159 NA 0.1916292 NA FALSE NA 0.004 0.683 . intron_variant MODIFIER ZNF546 HGNC 28671 ENST00000595225 3/5 1 NA ACA C,A 8.236e-06 19:40006059 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 intron_variant 0.480556 0.53328 0.21922 0.084569 0.7111426 0.581946 2.544711e-10 FALSE 4.1157e-06 ENSE00001386847_002 ENSE00001386847 002 19 40511956 40512125 + 47 87 36 C T 40512006 2412 51 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCTGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006098 40006099 40006099 exon 4 0.04597701 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCTGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 1293 828 0.008552539 0.01654446 0.0125485 0.7998047 0.8201089 0.7484869 0.771831 NA NA -0.7399343 -0.7552866 0.8099568 0.760159 NA -0.7476105 NA TRUE NA 0.062 0.206 . missense_variant MODERATE ZNF546 HGNC 28671 ENST00000595225 4/6 1 NA CCG C,T 2.471e-05 19:40006099 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 missense_variant 2.164335 0.22248 0.00307 0.554377 0.7361932 0 2.544711e-10 FALSE 1.6264e-05 ENSE00001386847_003 ENSE00001386847 003 19 40511956 40512125 + 47 87 36 G A 40512007 2413 52 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCAGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006099 40006100 40006100 exon 5 0.05747126 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCAGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 1568 145 0.6802919 0.865025 0.7726585 0.7998047 0.8201089 0.7484869 0.771831 NA NA -0.06819498 0.09319398 0.8099568 0.760159 NA 0.0124995 NA FALSE NA 0.064 -0.229 . missense_variant MODERATE ZNF546 HGNC 28671 ENST00000595225 4/6 1 NA CGG G,A 1.647e-05 19:40006100 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 missense_variant 1.93252 0.35188 0.0644 0.554377 0.7616864 0 2.544711e-10 FALSE 4.47424e-05 ENSE00001386847_006 ENSE00001386847 006 19 40511956 40512125 + 47 87 36 C G 40512031 2416 76 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTGCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006123 40006124 40006124 exon 29 0.3333333 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTGCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 317 1962 0.8625283 0.6940165 0.7782724 0.7998047 0.8201089 0.7484869 0.771831 NA NA 0.1140414 -0.07781455 0.8099568 0.760159 NA 0.01811344 NA FALSE NA 0 0.243 . missense_variant MODERATE ZNF546 HGNC 28671 ENST00000595225 4/6 1 NA TCC C,G 8.236e-06 19:40006124 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 missense_variant 1.537088 0.4059 0.10927 0.554377 0.9017584 0 2.544711e-10 FALSE 4.06673e-06 ENSE00001386847_008 ENSE00001386847 008 19 40511956 40512125 + 47 87 36 G C 40512051 2418 96 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGACAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006143 40006144 40006144 exon -39 0.5632184 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGACAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 1499 229 0.9569123 0.9518778 0.954395 0.7998047 0.8201089 0.7484869 0.771831 NA NA 0.2084254 0.1800467 0.8099568 0.760159 NA 0.1942361 NA FALSE NA 0.003 -0.005 . missense_variant MODERATE ZNF546 HGNC 28671 ENST00000595225 4/6 1 NA AGA G,C 8.236e-06 19:40006144 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 missense_variant -0.666989 0.18607 0.07975 0.554377 0.7879372 0 2.544711e-10 FALSE 4.0702e-06 ENSE00001386847_009 ENSE00001386847 009 19 40511956 40512125 + 47 87 36 A G 40512052 2419 97 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGGACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006144 40006145 40006145 exon -38 0.5747126 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGGACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 620 318 0.9997527 0.9969509 0.9983518 0.7998047 0.8201089 0.7484869 0.771831 NA NA 0.2512659 0.2251198 0.8099568 0.760159 NA 0.2381929 NA FALSE NA 0.004 0.355 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:40006145 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 missense_variant 2.342929 0.18501 0.00222 0.554377 0.984086 0 2.544711e-10 FALSE 4.0711e-06 ENSE00001386847_010 ENSE00001386847 010 19 40511956 40512125 + 47 87 36 A C 40512052 2420 97 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGCACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006144 40006145 40006145 exon -38 0.5747126 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGCACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 1201 1408 0.7588866 0.8089419 0.7839143 0.7998047 0.8201089 0.7484869 0.771831 NA NA 0.01039977 0.0371109 0.8099568 0.760159 NA 0.02375534 NA FALSE NA 0.004 0.355 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF546 NA NA NA ENSG00000187187 ENSE00003563175 missense_variant 0.535559 0.26273 0.05411 0.554377 0.9702832 0 2.544711e-10 FALSE 8.1422e-06 ENSE00001386847_011 ENSE00001386847 011 19 40511956 40512125 + 47 87 36 G A 40512070 2421 115 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGATTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006162 40006163 40006163 exon -20 0.7816092 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGATTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 1047 220 0.8120905 0.8211104 0.8166004 0.7998047 0.8201089 0.7484869 0.771831 NA NA 0.06360365 0.04927932 0.8099568 0.760159 NA 0.05644149 NA FALSE NA 0 -1.16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:40006163 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 missense_variant 2.956735 0.18977 0.01468 0.554377 0.7723433 0 2.544711e-10 FALSE 4.08013e-06 ENSE00001386847_012 ENSE00001386847 012 19 40511956 40512125 + 47 87 36 G C 40512070 2422 115 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGCTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006162 40006163 40006163 exon -20 0.7816092 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGCTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 631 976 0.9872018 0.971693 0.9794474 0.7998047 0.8201089 0.7484869 0.771831 NA NA 0.2387149 0.1998619 0.8099568 0.760159 NA 0.2192884 NA FALSE NA 0 -1.16 NA NA NA ZNF546 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF546 NA NA NA ENSG00000187187 ENSE00003563175 missense_variant 0.523557 0.20092 0.02878 0.554377 0.7432486 0 2.544711e-10 FALSE 4.08013e-06 ENSE00001386847_013 ENSE00001386847 013 19 40511956 40512125 + 47 87 36 C T 40512079 2423 124 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAATCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006171 40006172 40006172 exon -11 0.8850575 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAATCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 477 381 0.6848489 0.5826734 0.6337611 0.7998047 0.8201089 0.7484869 0.771831 NA NA -0.06363793 -0.1891577 0.8099568 0.760159 NA -0.1263978 NA FALSE NA 0.678 0.194 . missense_variant MODERATE ZNF546 HGNC 28671 ENST00000595225 4/6 1 NA ACC C,T 1.647e-05 19:40006172 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 missense_variant 4.286239 0.9082 0.39947 0.554377 0.9747821 0 2.544711e-10 FALSE 1.63385e-05 ENSE00001386847_014 ENSE00001386847 014 19 40511956 40512125 + 47 87 36 G A 40512084 2424 129 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGACCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006176 40006177 40006177 exon -6 0.9425287 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGACCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 471 311 0.7954835 0.8 0.7977417 0.7998047 0.8201089 0.7484869 0.771831 NA NA 0.04699662 0.02816897 0.8099568 0.760159 NA 0.0375828 NA FALSE NA 0.857 0.765 . missense_variant MODERATE ZNF546 HGNC 28671 ENST00000595225 4/6 1 NA GGC G,A 8.236e-06 19:40006177 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 missense_variant 2.742177 0.91199 0.50974 0.554377 0.9258203 0 2.544711e-10 FALSE 1.63491e-05 ENSE00001386847_015 ENSE00001386847 015 19 40511956 40512125 + 47 87 36 G A 40512090 2425 135 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATATAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006182 40006183 40006183 downstr_intron 1 1.028571 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATATAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 1296 1592 0.02645457 0.0693215 0.04788803 0.7998047 0.8201089 0.7484869 0.771831 NA NA -0.7220323 -0.7025095 0.8099568 0.760159 NA -0.7122709 NA TRUE NA 0.989 3.37 . splice_donor_variant HIGH ZNF546 HGNC 28671 ENST00000595225 4/5 1 NA HC TGT G,A 8.236e-06 19:40006183 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 splice_donor_variant 2.899542 0.91192 0.83627 0.101703 0.9689303 0.76184 2.544711e-10 FALSE 1.23179e-05 ENSE00001386847_016 ENSE00001386847 016 19 40511956 40512125 + 47 87 36 T A 40512095 2426 140 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGATTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006187 40006188 40006188 downstr_intron 6 1.171429 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGATTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 272 180 0.008982617 0.001782047 0.005382332 0.7998047 0.8201089 0.7484869 0.771831 NA NA -0.7395043 -0.770049 0.8099568 0.760159 NA -0.7547766 NA TRUE NA 0.974 1.512 . splice_region_variant&intron_variant LOW ZNF546 HGNC 28671 ENST00000595225 4/5 1 NA GTT T,A 1.647e-05 19:40006188 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 splice_region_variant 0.678608 0.83873 0.71045 0.101703 0.8114685 0.261635 2.544711e-10 FALSE 1.23523e-05 ENSE00001386847_017 ENSE00001386847 017 19 40511956 40512125 + 47 87 36 T C 40512102 2427 147 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTCTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 40006194 40006195 40006195 downstr_intron 13 1.371429 AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTCTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT mutant NA NA NA NA NA 708 261 0.6345956 0.6155012 0.6250484 0.7998047 0.8201089 0.7484869 0.771831 NA NA -0.1138913 -0.1563299 0.8099568 0.760159 NA -0.1351106 NA FALSE NA 0.138 0.314 . intron_variant MODIFIER ZNF546 HGNC 28671 ENST00000595225 4/5 rs200812690 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TTT T,C 1.647e-05 19:40006195 ZNF546 HGNC Symbol protein_coding 36907 ENSG00000187187 ENSE00003563175 intron_variant -0.086973 0.27467 0.10294 0.108992 0.7336402 0.0888349 2.544711e-10 FALSE 8.27157e-06 ENSE00001386847_BRK ENSE00001386847 BRK 19 40511956 40512125 + 47 87 36 A,G; T,T NA NA NA AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCTTCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATCCAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT 40006048 40006218 NA NA NA NA NA NA AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCTTCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATCCAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT AGTTTTGACACACATCTGGTCTCAGAGTCACTTGTTCTTCCCCCCAGCCCCGGTTTCTCTGGATTCTGTGCTTCTCCATGGAGGAAACTCAAGGAGAACTGACAAGTTCTTGTGGTTCTAAAACCATGGCCAATGTAAGTTTGTGTTTTTCTTCCTTGAAATACTGTGTT control NA NA NA NA NA 487 587 0.07484544 0.07927319 0.07705932 0.7998047 0.8201089 0.7484869 0.771831 NA NA -0.6736414 -0.6925578 0.8099568 0.760159 NA -0.6830996 NA TRUE NA NA NA NA NA NA ZNF546 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF546 NA NA NA ENSG00000187187 ENSE00003563175 NA NA NA NA NA NA NA 2.544711e-10 FALSE NA ENSE00001387355_000 ENSE00001387355 000 15 60646303 60646472 - 50 60 60 NA NA NA NA NA ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 NA NA NA NA NA NA ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG natural 14 12 0.9876763 0.9905275 0.9891019 3634 2488 0.8204947 0.9913135 0.9059041 0.9876763 0.9905275 0.8204947 0.9913135 0 0 0 0 0.9891019 0.9059041 0 0 0 FALSE FALSE NA NA NA NA NA ANXA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA2 NA NA NA ENSG00000182718 ENSE00003791499 NA NA NA NA NA NA NA 0.009843463 FALSE NA ENSE00001387355_001 ENSE00001387355 001 15 60646303 60646472 - 50 60 60 C G 60646313 1177 160 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGCTAAGTCTCTG 60354103 60354273 60354113 60354114 60354114 downstr_intron 40 1.816327 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGCTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 389 365 1 1 1 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1795053 0.008686492 0.9891019 0.9059041 NA 0.09409592 NA FALSE NA 0 -0.226 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA ACC C,G 1.647e-05 15:60354114 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.952688 0.29466 0.26922 0.115753 0.6616543 0.0505381 0.009843463 FALSE 8.34369e-06 ENSE00001387355_002 ENSE00001387355 002 15 60646303 60646472 - 50 60 60 G A 60646316 1178 157 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTTTGGTAAGTCTCTG 60354103 60354273 60354116 60354117 60354117 downstr_intron 37 1.755102 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTTTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 617 344 0.9980495 1 0.9990248 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1775549 0.008686492 0.9891019 0.9059041 NA 0.09312067 NA FALSE NA 0 -0.093 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 rs200663573 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0009 AGA G,A 0.0004859 15:60354117 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.960456 0.20611 0.04371 0.115753 0.7829046 0.0659682 0.009843463 FALSE 0.000577511 ENSE00001387355_003 ENSE00001387355 003 15 60646303 60646472 - 50 60 60 A C 60646320 1179 153 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGGTTTCTGGTAAGTCTCTG 60354103 60354273 60354120 60354121 60354121 downstr_intron 33 1.673469 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGGTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 22 370 0.9112772 0.9967464 0.9540118 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.0907825 0.005432846 0.9891019 0.9059041 NA 0.04810767 NA FALSE NA 0.001 1.528 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA AAC A,C 1.647e-05 15:60354121 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.613269 0.15174 0.17525 0.115753 0.7184754 0.0659682 0.009843463 FALSE 2.90148e-05 ENSE00001387355_004 ENSE00001387355 004 15 60646303 60646472 - 50 60 60 A G 60646331 1180 142 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTCTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354131 60354132 60354132 downstr_intron 22 1.44898 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTCTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 1559 616 0.9984588 0.9999382 0.9991985 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1779642 0.008624688 0.9891019 0.9059041 NA 0.09329442 NA FALSE NA 0 -0.041 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA AAA A,G 8.236e-06 15:60354132 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.299639 0.22011 0.09106 0.115753 0.5732027 0.0719849 0.009843463 FALSE 4.11086e-06 ENSE00001387355_005 ENSE00001387355 005 15 60646303 60646472 - 50 60 60 C T 60646354 1181 119 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCAGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354154 60354155 60354155 exon -2 0.9833333 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCAGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 742 116 0.9992209 1 0.9996105 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1787263 0.008686492 0.9891019 0.9059041 NA 0.09370638 NA FALSE NA 1 4.081 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA CCG C,T 1.647e-05 15:60354155 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 missense_variant 4.597534 0.97242 0.94009 0.67177 0.4843193 0 0.009843463 FALSE 2.03272e-05 ENSE00001387355_006 ENSE00001387355 006 15 60646303 60646472 - 50 60 60 G A 60646355 1182 118 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTTGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354155 60354156 60354156 exon -3 0.9666667 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTTGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 306 300 0.9984942 1 0.9992471 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1779996 0.008686492 0.9891019 0.9059041 NA 0.09334303 NA FALSE NA 1 3.951 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA CGA G,A 8.236e-06 15:60354156 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 missense_variant 4.389173 0.94349 0.88835 0.67177 0.9858429 0 0.009843463 FALSE 4.06517e-06 ENSE00001387355_007 ENSE00001387355 007 15 60646303 60646472 - 50 60 60 A G 60646377 1183 96 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTACGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354177 60354178 60354178 exon -25 0.6 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTACGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 622 739 1 0.9908188 0.9954094 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1795053 -0.0004947263 0.9891019 0.9059041 NA 0.08950531 NA FALSE NA 0.998 0.843 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA CAT A,G 1.647e-05 15:60354178 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 synonymous_variant 0.089841 0.90937 0.82567 0.67177 0.3627407 0 0.009843463 FALSE 8.12757e-06 ENSE00001387355_008 ENSE00001387355 008 15 60646303 60646472 - 50 60 60 T C 60646381 1184 92 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGGTTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354181 60354182 60354182 exon -29 0.5333333 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGGTTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 1616 868 0.9998103 0.9869909 0.9934006 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1793156 -0.004322564 0.9891019 0.9059041 NA 0.08749654 NA FALSE NA 1 7.014 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 rs567168734 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATC T,C 0.0001318 15:60354182 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 missense_variant 6.224673 0.96599 0.96923 0.67177 0.9981416 0 0.009843463 FALSE 0.000121913 ENSE00001387355_012 ENSE00001387355 012 15 60646303 60646472 - 50 60 60 T A 60646404 1188 69 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGTGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354204 60354205 60354205 exon 9 0.15 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGTGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 804 330 0.9511441 1 0.975572 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1306494 0.008686492 0.9891019 0.9059041 NA 0.06966795 NA FALSE NA 0.992 0.297 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA CTC T,A 8.236e-06 15:60354205 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 missense_variant 2.578045 0.91178 0.86237 0.67177 0.9951501 0 0.009843463 FALSE 4.07063e-06 ENSE00001387355_015 ENSE00001387355 015 15 60646303 60646472 - 50 60 60 A T 60646423 1191 50 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTATCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354223 60354224 60354224 upstr_intron -11 -0.1666667 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTATCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 95 348 0.998383 1 0.9991915 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1778883 0.008686492 0.9891019 0.9059041 NA 0.09328742 NA FALSE NA 0 -0.029 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA AAA A,T 8.237e-06 15:60354224 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant -0.122419 0.26577 0.16466 0.099367 0.4369971 0.152862 0.009843463 FALSE 4.18603e-06 ENSE00001387355_016 ENSE00001387355 016 15 60646303 60646472 - 50 60 60 A C 60646428 1192 45 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTGTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354228 60354229 60354229 upstr_intron -16 -0.25 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTGTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 470 359 0.9873696 0.9998939 0.9936317 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1668749 0.008580414 0.9891019 0.9059041 NA 0.08772766 NA FALSE NA 0 0.897 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA AAA A,C 8.237e-06 15:60354229 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant -0.480951 0.25665 0.11096 0.099367 0.5270385 0.113064 0.009843463 FALSE 4.21195e-06 ENSE00001387355_017 ENSE00001387355 017 15 60646303 60646472 - 50 60 60 C T 60646434 1193 39 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAATTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354234 60354235 60354235 upstr_intron -22 -0.35 ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAATTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 532 729 0.875539 0.9967506 0.9361448 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.05504437 0.005437107 0.9891019 0.9059041 NA 0.03024074 NA FALSE NA 0 -0.096 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 rs374055218 1 NA T:0 T:0.0001 ACT C,T 8.237e-06 15:60354235 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.137163 0.2673 0.11779 0.099367 0.5987527 0.0913152 0.009843463 FALSE 4.23066e-06 ENSE00001387355_018 ENSE00001387355 018 15 60646303 60646472 - 50 60 60 A G 60646439 1194 34 ATTTTCAGTTTTAAAATACACAAAGAAATGTATCTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354239 60354240 60354240 upstr_intron -27 -0.4333333 ATTTTCAGTTTTAAAATACACAAAGAAATGTATCTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 1414 562 0.9990062 0.9762017 0.987604 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1785116 -0.01511182 0.9891019 0.9059041 NA 0.08169988 NA FALSE NA 0.022 0.634 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:60354240 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant -0.111507 0.20351 0.12634 0.099367 0.5446551 0.0913152 0.009843463 FALSE 4.28997e-05 ENSE00001387355_019 ENSE00001387355 019 15 60646303 60646472 - 50 60 60 A C 60646439 1195 34 ATTTTCAGTTTTAAAATACACAAAGAAATGTATGTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354239 60354240 60354240 upstr_intron -27 -0.4333333 ATTTTCAGTTTTAAAATACACAAAGAAATGTATGTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 348 293 1 1 1 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1795053 0.008686492 0.9891019 0.9059041 NA 0.09409592 NA FALSE NA 0.022 0.634 NA NA NA ANXA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA2 NA NA NA ENSG00000182718 ENSE00003791499 intron_variant -0.273874 0.20377 0.15981 0.099367 0.6074713 0.0913152 0.009843463 FALSE 1.28699e-05 ENSE00001387355_020 ENSE00001387355 020 15 60646303 60646472 - 50 60 60 T C 60646441 1196 32 ATTTTCAGTTTTAAAATACACAAAGAAATGTGTTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354241 60354242 60354242 upstr_intron -29 -0.4666667 ATTTTCAGTTTTAAAATACACAAAGAAATGTGTTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 514 615 0.9997017 1 0.9998509 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1792071 0.008686492 0.9891019 0.9059041 NA 0.09394679 NA FALSE NA 0.024 0.009 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA ATA T,C 8.237e-06 15:60354242 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.203727 0.26481 0.16437 0.099367 0.6318105 0.0913152 0.009843463 FALSE 8.6123e-06 ENSE00001387355_021 ENSE00001387355 021 15 60646303 60646472 - 50 60 60 C T 60646443 1197 30 ATTTTCAGTTTTAAAATACACAAAGAAATATATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354243 60354244 60354244 upstr_intron -31 -0.5 ATTTTCAGTTTTAAAATACACAAAGAAATATATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 1024 425 0.9975561 1 0.9987781 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1770615 0.008686492 0.9891019 0.9059041 NA 0.09287398 NA FALSE NA 0 -0.324 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA ACA C,T 1.647e-05 15:60354244 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.27018 0.18217 0.03335 0.099367 0.5034994 0.0913152 0.009843463 FALSE 3.89533e-05 ENSE00001387355_022 ENSE00001387355 022 15 60646303 60646472 - 50 60 60 T G 60646447 1198 26 ATTTTCAGTTTTAAAATACACAAAGCAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354247 60354248 60354248 upstr_intron -35 -0.5666667 ATTTTCAGTTTTAAAATACACAAAGCAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 509 233 0.9917694 1 0.9958847 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1712748 0.008686492 0.9891019 0.9059041 NA 0.08998062 NA FALSE NA 0 0.504 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA TTC T,G 1.647e-05 15:60354248 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.227492 0.20282 0.23961 0.099367 0.4233137 0.0913152 0.009843463 FALSE 1.32113e-05 ENSE00001387355_023 ENSE00001387355 023 15 60646303 60646472 - 50 60 60 C A 60646448 1199 25 ATTTTCAGTTTTAAAATACACAAATAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354248 60354249 60354249 upstr_intron -36 -0.5833333 ATTTTCAGTTTTAAAATACACAAATAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 165 1106 0.9857668 0.9984238 0.9920953 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1652721 0.007110276 0.9891019 0.9059041 NA 0.0861912 NA FALSE NA 0 0.7 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA TCT C,A 1.647e-05 15:60354249 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.17442 0.21711 0.25078 0.099367 0.4550346 0.0913152 0.009843463 FALSE 1.76362e-05 ENSE00001387355_025 ENSE00001387355 025 15 60646303 60646472 - 50 60 60 T C 60646455 1201 18 ATTTTCAGTTTTAAAATGCACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354255 60354256 60354256 upstr_intron -43 -0.7 ATTTTCAGTTTTAAAATGCACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 1644 622 1 1 1 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1795053 0.008686492 0.9891019 0.9059041 NA 0.09409592 NA FALSE NA 0 -0.3 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA GTA T,C 8.237e-06 15:60354256 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant 0.091847 0.19487 0.06093 0.099367 0.4839786 0.113064 0.009843463 FALSE 8.99095e-06 ENSE00001387355_026 ENSE00001387355 026 15 60646303 60646472 - 50 60 60 A C 60646462 1202 11 ATTTTCAGTTGTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 60354262 60354263 60354263 upstr_intron -50 -0.8166667 ATTTTCAGTTGTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG mutant NA NA NA NA NA 99 13 1 1 1 0.9876763 0.9905275 0.8204947 0.9913135 NA NA 0.1795053 0.008686492 0.9891019 0.9059041 NA 0.09409592 NA FALSE NA 0.14 2.265 . downstream_gene_variant MODIFIER ANXA2 HGNC 537 ENST00000559113 1 NA AAA A,C 8.237e-06 15:60354263 ANXA2 HGNC Symbol protein_coding 55749 ENSG00000182718 ENSE00003791499 intron_variant -0.081748 0.40169 0.23225 0.099367 0.5191215 0.109461 0.009843463 FALSE NA ENSE00001387355_BRK ENSE00001387355 BRK 15 60646303 60646472 - 50 60 60 A,G; T,T NA NA NA ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATTTGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGCCAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG 60354103 60354273 NA NA NA NA NA NA ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATTTGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGCCAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG ATTTTCAGTTTTAAAATACACAAAGAAATGTATTTGAAGTTCTTTTTCTTTCCCCCATAGGGTAGAAGAGCAGAGGATGGCTCTGTCATTGATTATGAACTGATTGACCAAGATGCTCGGGTAAGTGCTGAGCTTTTTGCTTTGAGTTTTTGTTTTCTGGTAAGTCTCTG control NA NA NA NA NA 664 519 0.01569576 0 0.007847882 0.9876763 0.9905275 0.8204947 0.9913135 NA NA -0.8047989 -0.9913135 0.9891019 0.9059041 NA -0.8980562 NA TRUE NA NA NA NA NA NA ANXA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA2 NA NA NA ENSG00000182718 ENSE00003791499 NA NA NA NA NA NA NA 0.009843463 FALSE NA ENSE00001388595_000 ENSE00001388595 000 4 109822222 109822391 - 53 54 63 NA NA NA NA NA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA 108901065 108901235 NA NA NA NA NA NA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA natural 126 269 0.85 0.85 0.85 6394 2419 0.9428892 0.8981935 0.9205414 0.85 0.85 0.9428892 0.8981935 0 0 0 0 0.85 0.9205414 0 0 0 FALSE FALSE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001388595 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001388595_001 ENSE00001388595 001 4 109822222 109822391 - 53 54 63 T G 109822234 1273 158 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGCATTGTCAGGAAA 108901065 108901235 108901077 108901078 108901078 downstr_intron 41 1.788462 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGCATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 301 200 0.9370384 1 0.9685192 0.85 0.85 0.9428892 0.8981935 NA NA -0.005850797 0.1018065 0.85 0.9205414 NA 0.04797784 NA FALSE NA 0 0.812 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 13/32 rs372104272 1 NA G:0 G:0.0004 TTC T,G 2.483e-05 4:108901078 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 0.400486 0.22464 0.21007 0.053691 0.5667087 0.0443366 7.11572e-08 FALSE 3.35506e-05 ENSE00001388595_002 ENSE00001388595 002 4 109822222 109822391 - 53 54 63 C T 109822235 1274 157 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACAAATTGTCAGGAAA 108901065 108901235 108901078 108901079 108901079 downstr_intron 40 1.769231 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACAAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 70 546 0.8947713 0.960838 0.9278047 0.85 0.85 0.9428892 0.8981935 NA NA -0.04811791 0.06264452 0.85 0.9205414 NA 0.007263304 NA FALSE NA 0 -0.053 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 13/32 1 NA TCG C,T 0.0002649 4:108901079 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 0.019112 0.1405 0.06897 0.053691 0.6104581 0.0443366 7.11572e-08 FALSE 0.000264572 ENSE00001388595_004 ENSE00001388595 004 4 109822222 109822391 - 53 54 63 G A 109822240 1276 152 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGATACACGAATTGTCAGGAAA 108901065 108901235 108901083 108901084 108901084 downstr_intron 35 1.673077 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGATACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 43 967 0.9514057 0.9688556 0.9601306 0.85 0.85 0.9428892 0.8981935 NA NA 0.008516511 0.07066204 0.85 0.9205414 NA 0.03958927 NA FALSE NA 0 -0.28 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 13/32 1 NA TGT G,A 8.277e-06 4:108901084 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 0.185348 0.15447 0.02231 0.053691 0.6351309 0.0443366 7.11572e-08 FALSE 4.15845e-06 ENSE00001388595_005 ENSE00001388595 005 4 109822222 109822391 - 53 54 63 T C 109822246 1277 146 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCGTTTGACACACGAATTGTCAGGAAA 108901065 108901235 108901089 108901090 108901090 downstr_intron 29 1.557692 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCGTTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 1917 74 0.9737471 0.9579074 0.9658272 0.85 0.85 0.9428892 0.8981935 NA NA 0.03085787 0.05971385 0.85 0.9205414 NA 0.04528586 NA FALSE NA 0.102 0.98 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 13/32 1 NA ATG T,C 8.277e-06 4:108901090 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 0.403112 0.28294 0.21263 0.053691 0.6018629 0.0443366 7.11572e-08 FALSE 4.15396e-06 ENSE00001388595_006 ENSE00001388595 006 4 109822222 109822391 - 53 54 63 T C 109822252 1278 140 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCGGAATCATTTGACACACGAATTGTCAGGAAA 108901065 108901235 108901095 108901096 108901096 downstr_intron 23 1.442308 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCGGAATCATTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 227 93 0.9673328 0.9671257 0.9672292 0.85 0.85 0.9428892 0.8981935 NA NA 0.02444361 0.06893214 0.85 0.9205414 NA 0.04668788 NA FALSE NA 0.003 2.064 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 13/32 1 NA CTG T,C 8.276e-06 4:108901096 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 0.470923 0.24957 0.28366 0.053691 0.6138094 0.0443366 7.11572e-08 FALSE 4.11005e-06 ENSE00001388595_008 ENSE00001388595 008 4 109822222 109822391 - 53 54 63 T G 109822305 1280 87 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCCGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA 108901065 108901235 108901148 108901149 108901149 exon 24 0.4444444 TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCCGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 718 820 0.997743 0.9993008 0.9985219 0.85 0.85 0.9428892 0.8981935 NA NA 0.05485375 0.1011073 0.85 0.9205414 NA 0.0779805 NA FALSE NA 0.67 0.408 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 13/33 1 NA CTG T,G 8.278e-06 4:108901149 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 synonymous_variant 1.223164 0.97386 0.73377 0.615465 0.7840434 0 7.11572e-08 FALSE 4.07246e-06 ENSE00001388595_012 ENSE00001388595 012 4 109822222 109822391 - 53 54 63 T C 109822363 1284 29 TGATCCATGTAATGTATTGATTTTGTCTGTTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA 108901065 108901235 108901206 108901207 108901207 upstr_intron -35 -0.5396825 TGATCCATGTAATGTATTGATTTTGTCTGTTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 68 71 1 0.9955933 0.9977967 0.85 0.85 0.9428892 0.8981935 NA NA 0.05711078 0.09739979 0.85 0.9205414 NA 0.07725529 NA FALSE NA 0 -4.369 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 12/32 1 NA ATA T,C 3.312e-05 4:108901207 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 1.673545 0.10907 0.00755 0.053691 0.6816961 0.290736 7.11572e-08 FALSE 1.64593e-05 ENSE00001388595_013 ENSE00001388595 013 4 109822222 109822391 - 53 54 63 G A 109822365 1285 27 TGATCCATGTAATGTATTGATTTTGTTTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA 108901065 108901235 108901208 108901209 108901209 upstr_intron -37 -0.5714286 TGATCCATGTAATGTATTGATTTTGTTTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 13 285 0.8245101 0.9592529 0.8918815 0.85 0.85 0.9428892 0.8981935 NA NA -0.1183791 0.06105939 0.85 0.9205414 NA -0.02865986 NA FALSE NA 0 -0.572 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 12/32 1 NA AGA G,A 1.656e-05 4:108901209 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 1.96243 0.17003 0.0204 0.053691 0.7802782 0.257125 7.11572e-08 FALSE 1.64905e-05 ENSE00001388595_014 ENSE00001388595 014 4 109822222 109822391 - 53 54 63 C G 109822367 1286 25 TGATCCATGTAATGTATTGATTTTCTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA 108901065 108901235 108901210 108901211 108901211 upstr_intron -39 -0.6031746 TGATCCATGTAATGTATTGATTTTCTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 1643 159 0.9542082 0.9169511 0.9355797 0.85 0.85 0.9428892 0.8981935 NA NA 0.01131896 0.01875762 0.85 0.9205414 NA 0.01503829 NA FALSE NA 0 -0.471 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 12/32 1 NA ACA C,G 8.279e-06 4:108901211 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 2.014967 0.22545 0.13833 0.053691 0.7325117 0.269956 7.11572e-08 FALSE 4.12865e-06 ENSE00001388595_015 ENSE00001388595 015 4 109822222 109822391 - 53 54 63 C A 109822373 1287 19 TGATCCATGTAATGTATTTATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA 108901065 108901235 108901216 108901217 108901217 upstr_intron -45 -0.6984127 TGATCCATGTAATGTATTTATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA mutant NA NA NA NA NA 230 326 0.95 0.9836742 0.9668371 0.85 0.85 0.9428892 0.8981935 NA NA 0.007110782 0.08548072 0.85 0.9205414 NA 0.04629575 NA FALSE NA 0 -1.657 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 12/32 1 NA TCA C,A 1.656e-05 4:108901217 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00001388595 intron_variant 1.893617 0.15604 0.03436 0.053691 0.7508629 0.263521 7.11572e-08 FALSE 1.66135e-05 ENSE00001388595_BRK ENSE00001388595 BRK 4 109822222 109822391 - 53 54 63 A,G; T,T NA NA NA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGTTGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGCCTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA 108901065 108901235 NA NA NA NA NA NA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGTTGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGCCTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA TGATCCATGTAATGTATTGATTTTGTCTATTTTACTTAGTAGTATCTATTTTTCTATTTTGAGGGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAGGTTAGTACAAATAAAGCCAAGCAGAATCATTTGACACACGAATTGTCAGGAAA control 36 193 0 0 0 NA NA NA NA NA 0.85 0.85 0.9428892 0.8981935 -0.85 -0.85 NA NA 0.85 0.9205414 -0.85 NA NA NA TRUE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00001388595 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001388790_000 ENSE00001388790 000 13 110894972 110895141 - 50 60 60 NA NA NA NA NA GCATAGTGCCCTCGCTTTGAAAGTGTTCTTCTATTTAAAGAAGTTTTCTTTTCCTTCCAGGGTGGCTGTGCTGGCTCTGGCTGTGGCAAATGTGACTGCCATGGAGTGAAGGGACAAAAGGTGAGTTGCCGAAATTTAAATCACAACATTTCTTTGTGAATTGGACAGTA 110242624 110242794 NA NA NA NA NA NA GCATAGTGCCCTCGCTTTGAAAGTGTTCTTCTATTTAAAGAAGTTTTCTTTTCCTTCCAGGGTGGCTGTGCTGGCTCTGGCTGTGGCAAATGTGACTGCCATGGAGTGAAGGGACAAAAGGTGAGTTGCCGAAATTTAAATCACAACATTTCTTTGTGAATTGGACAGTA GCATAGTGCCCTCGCTTTGAAAGTGTTCTTCTATTTAAAGAAGTTTTCTTTTCCTTCCAGGGTGGCTGTGCTGGCTCTGGCTGTGGCAAATGTGACTGCCATGGAGTGAAGGGACAAAAGGTGAGTTGCCGAAATTTAAATCACAACATTTCTTTGTGAATTGGACAGTA natural 184 212 0.9995293 0.9973846 0.9984569 4551 4925 0.8763734 0.9252794 0.9008264 0.9995293 0.9973846 0.8763734 0.9252794 0 0 0 0 0.9984569 0.9008264 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001388790 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001388790_BRK ENSE00001388790 BRK 13 110894972 110895141 - 50 60 60 A,G; T,T NA NA NA GCATAGTGCCCTCGCTTTGAAAGTGTTCTTCTATTTAAAGAAGTTTTCTTTTCCTTCCTTGGTGGCTGTGCTGGCTCTGGCTGTGGCAAATGTGACTGCCATGGAGTGAAGGGACAAAAGCCGAGTTGCCGAAATTTAAATCACAACATTTCTTTGTGAATTGGACAGTA 110242624 110242794 NA NA NA NA NA NA GCATAGTGCCCTCGCTTTGAAAGTGTTCTTCTATTTAAAGAAGTTTTCTTTTCCTTCCTTGGTGGCTGTGCTGGCTCTGGCTGTGGCAAATGTGACTGCCATGGAGTGAAGGGACAAAAGCCGAGTTGCCGAAATTTAAATCACAACATTTCTTTGTGAATTGGACAGTA GCATAGTGCCCTCGCTTTGAAAGTGTTCTTCTATTTAAAGAAGTTTTCTTTTCCTTCCAGGGTGGCTGTGCTGGCTCTGGCTGTGGCAAATGTGACTGCCATGGAGTGAAGGGACAAAAGGTGAGTTGCCGAAATTTAAATCACAACATTTCTTTGTGAATTGGACAGTA control NA NA NA NA NA 97 38 0 0 0 0.9995293 0.9973846 0.8763734 0.9252794 NA NA -0.8763734 -0.9252794 0.9984569 0.9008264 NA -0.9008264 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001388790 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001388950_000 ENSE00001388950 000 17 74942405 74942574 + 53 75 42 NA NA NA NA NA CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 NA NA NA NA NA NA CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC natural 902 1675 0.8303062 0.7938837 0.812095 1209 858 0.7277266 0.8355867 0.7816566 0.8303062 0.7938837 0.7277266 0.8355867 0 0 0 0 0.812095 0.7816566 0 0 0 FALSE FALSE NA NA NA NA NA MGAT5B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5B NA NA NA ENSG00000167889 ENSE00003684153 NA NA NA NA NA NA NA 0.1261041 FALSE NA ENSE00001388950_001 ENSE00001388950 001 17 74942405 74942574 + 53 75 42 T G 74942421 3127 17 CCCCGACGGCTGGGCCGTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946338 76946339 76946339 upstr_intron -37 -0.6792453 CCCCGACGGCTGGGCCGTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 10 46 0.85 0.85 0.85 11 16 0.8 0.8 0.8 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 0.07227344 -0.03558667 0.812095 0.7816566 0.03790504 0.01834338 0.01956165 FALSE FALSE 0 -0.283 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA CTT T,G 8.237e-06 17:76946339 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 non_coding_transcript_exon_variant 0.041431 0.20593 0.04394 0 0.7066015 0.0821793 0.1261041 FALSE 4.56021e-06 ENSE00001388950_002 ENSE00001388950 002 17 74942405 74942574 + 53 75 42 C T 74942426 3128 22 CCCCGACGGCTGGGCCTTCTCTCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946343 76946344 76946344 upstr_intron -32 -0.5849057 CCCCGACGGCTGGGCCTTCTCTCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 39 28 0.85 0.85 0.85 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 NA NA 0.812095 0.7816566 0.03790504 NA NA NA FALSE 0 -0.001 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA CCC C,T 8.237e-06 17:76946344 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 non_coding_transcript_exon_variant 0.265756 0.19439 0.02364 0 0.9621023 0.0725986 0.1261041 FALSE NA ENSE00001388950_004 ENSE00001388950 004 17 74942405 74942574 + 53 75 42 C T 74942430 3130 26 CCCCGACGGCTGGGCCTTCTCCCGCTCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946347 76946348 76946348 upstr_intron -28 -0.509434 CCCCGACGGCTGGGCCTTCTCCCGCTCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 56 80 0.85 0.85 0.85 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 NA NA 0.812095 0.7816566 0.03790504 NA NA NA FALSE 0.001 1.217 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA CCC C,T 8.237e-06 17:76946348 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 non_coding_transcript_exon_variant -0.229945 0.18738 0.03048 0 0.5955702 0.0725986 0.1261041 FALSE NA ENSE00001388950_005 ENSE00001388950 005 17 74942405 74942574 + 53 75 42 G T 74942437 3131 33 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTTTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946354 76946355 76946355 upstr_intron -21 -0.3773585 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTTTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 183 252 0.85 0.8324475 0.8412238 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.03856379 NA NA 0.812095 0.7816566 0.0291288 NA NA NA FALSE 0.106 0.42 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA TGT G,T 2.471e-05 17:76946355 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 non_coding_transcript_exon_variant -0.203615 0.21448 0.08274 0 0.9738071 0.157995 0.1261041 FALSE 3.4116e-05 ENSE00001388950_008 ENSE00001388950 008 17 74942405 74942574 + 53 75 42 C A 74942449 3134 45 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCATCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946366 76946367 76946367 upstr_intron -9 -0.1509434 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCATCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 462 662 0.85 0.85 0.85 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 NA NA 0.812095 0.7816566 0.03790504 NA NA NA FALSE 0.762 1.36 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA CCT C,A 1.647e-05 17:76946367 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 non_coding_transcript_exon_variant 1.609434 0.41518 0.74719 0.053691 0.7753539 0.446095 0.1261041 FALSE NA ENSE00001388950_009 ENSE00001388950 009 17 74942405 74942574 + 53 75 42 C T 74942451 3135 47 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTTCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946368 76946369 76946369 upstr_intron -7 -0.1132075 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTTCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 49 114 0.85 0.85 0.85 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 NA NA 0.812095 0.7816566 0.03790504 NA NA NA FALSE 0.981 0.737 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 rs560229341 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCC C,T 1.647e-05 17:76946369 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 splice_region_variant 1.629885 0.54857 0.10851 0.053691 0.8437885 0.445273 0.1261041 FALSE 2.10823e-05 ENSE00001388950_010 ENSE00001388950 010 17 74942405 74942574 + 53 75 42 C A 74942470 3136 66 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACATACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946387 76946388 76946388 exon 13 0.1733333 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACATACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 50 21 0.85 0.85 0.85 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 NA NA 0.812095 0.7816566 0.03790504 NA NA NA FALSE 1 2.463 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA CCT C,A 8.236e-06 17:76946388 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 missense_variant 4.204737 0.9859 0.93468 0.718356 0.9944777 0 0.1261041 FALSE NA ENSE00001388950_013 ENSE00001388950 013 17 74942405 74942574 + 53 75 42 C A 74942487 3139 83 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACATGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946404 76946405 76946405 exon 30 0.4 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACATGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 47 17 0.85 0.85 0.85 75 89 0.8 0.8 0.8 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 0.07227344 -0.03558667 0.812095 0.7816566 0.03790504 0.01834338 0.01956165 FALSE FALSE 0.001 -1.655 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA CCT C,A 2.471e-05 17:76946405 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 synonymous_variant 2.584964 0.96662 0.16149 0.718356 0.7894826 0 0.1261041 FALSE 1.25433e-05 ENSE00001388950_015 ENSE00001388950 015 17 74942405 74942574 + 53 75 42 G A 74942491 3141 87 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCAAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946408 76946409 76946409 exon 34 0.4533333 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCAAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant NA NA NA NA NA 31 163 0.8 0.8 0.8 0.8303062 0.7938837 0.7277266 0.8355867 NA NA 0.07227344 -0.03558667 0.812095 0.7816566 NA 0.01834338 NA FALSE NA 1 5.481 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 rs199775293 1 NA A:0.0002 A:0 CGA G,A 4.118e-05 17:76946409 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 missense_variant 5.596899 0.98108 0.94755 0.718356 0.9987237 0 0.1261041 FALSE 2.09454e-05 ENSE00001388950_016 ENSE00001388950 016 17 74942405 74942574 + 53 75 42 G A 74942505 3142 101 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAACGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946422 76946423 76946423 exon -28 0.64 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAACGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 199 282 0.8416923 0.85 0.8458462 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01138614 0.05611626 NA NA 0.812095 0.7816566 0.0337512 NA NA NA FALSE 1 3.796 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA AGC G,A 8.237e-06 17:76946423 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 synonymous_variant 1.411745 0.97935 0.88419 0.718356 0.8221103 0 0.1261041 FALSE 8.52006e-06 ENSE00001388950_017 ENSE00001388950 017 17 74942405 74942574 + 53 75 42 A G 74942509 3143 105 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGGTCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946426 76946427 76946427 exon -24 0.6933333 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGGTCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 48 10 0 0.066585 0.0332925 17 941 0 0.01180741 0.005903706 0.8303062 0.7938837 0.7277266 0.8355867 -0.8303062 -0.7272987 -0.7277266 -0.8237793 0.812095 0.7816566 -0.7788025 -0.7757529 0.003049551 TRUE TRUE 0.978 1.6 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 rs549171093 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GAT A,G 8.237e-06 17:76946427 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 missense_variant 0.265747 0.96144 0.66457 0.718356 0.7924783 0 0.1261041 FALSE 4.28255e-06 ENSE00001388950_018 ENSE00001388950 018 17 74942405 74942574 + 53 75 42 C T 74942512 3144 108 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCTACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946429 76946430 76946430 exon -21 0.7333333 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCTACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 71 80 0.85 0.85 0.85 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 NA NA 0.812095 0.7816566 0.03790504 NA NA NA FALSE 1 2.465 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:76946430 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 missense_variant 2.710938 0.9731 0.8602 0.718356 0.9815841 0 0.1261041 FALSE 0.00396822 ENSE00001388950_020 ENSE00001388950 020 17 74942405 74942574 + 53 75 42 C A 74942514 3146 110 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCAAGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946431 76946432 76946432 exon -19 0.76 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCAAGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 30 36 0.8315103 0.85 0.8407551 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.001204089 0.05611626 NA NA 0.812095 0.7816566 0.02866017 NA NA NA FALSE 0 -1.913 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:76946432 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 missense_variant 3.305114 0.95545 0.2236 0.718356 0.9879359 0 0.1261041 FALSE 3.04033e-05 ENSE00001388950_021 ENSE00001388950 021 17 74942405 74942574 + 53 75 42 C T 74942514 3147 110 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCATGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946431 76946432 76946432 exon -19 0.76 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCATGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 133 176 0.85 0.85 0.85 224 11 0.8007191 0.8353877 0.8180534 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 0.07299255 -0.0001990183 0.812095 0.7816566 0.03790504 0.03639677 0.001508271 FALSE FALSE 0 -1.913 NA NA NA MGAT5B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5B NA NA NA ENSG00000167889 ENSE00003684153 synonymous_variant 2.217424 0.95181 0.08792 0.718356 0.7986381 0 0.1261041 FALSE 1.73733e-05 ENSE00001388950_022 ENSE00001388950 022 17 74942405 74942574 + 53 75 42 A G 74942519 3148 115 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTGCATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946436 76946437 76946437 exon -14 0.8266667 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTGCATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 41 34 0.85 0.85 0.85 26 112 0.0118146 0.03016132 0.02098796 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 -0.715912 -0.8054254 0.812095 0.7816566 0.03790504 -0.7606687 0.7985737 TRUE FALSE 1 9.143 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/3 1 NA TAC A,G 8.238e-06 17:76946437 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 missense_variant 6.284187 0.99068 0.98907 0.718356 0.9983376 0 0.1261041 FALSE 4.39773e-06 ENSE00001388950_024 ENSE00001388950 024 17 74942405 74942574 + 53 75 42 A G 74942536 3150 132 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCGGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 76946453 76946454 76946454 downstr_intron 4 1.097561 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCGGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 11 47 0.85 0.85 0.85 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 NA NA 0.812095 0.7816566 0.03790504 NA NA NA FALSE 0.058 -0.163 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MGAT5B HGNC 24140 ENST00000568598 1/2 rs538427416 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAG A,G 4.12e-05 17:76946454 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 splice_region_variant -0.459832 0.13092 0.01142 0.053691 0.3358805 0.196586 0.1261041 FALSE 4.22539e-05 ENSE00001388950_026 ENSE00001388950 026 17 74942405 74942574 + 53 75 42 C G 74942559 3152 155 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCGAGATCCTGTCAGACC 76946322 76946492 76946476 76946477 76946477 downstr_intron 27 1.658537 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCGAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant NA NA NA NA NA 44 159 0.8072997 0.8552645 0.8312821 0.8303062 0.7938837 0.7277266 0.8355867 NA NA 0.07957313 0.0196778 0.812095 0.7816566 NA 0.04962546 NA FALSE NA 0.001 0.463 . intron_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/2 1 NA CCA C,G 4.949e-05 17:76946477 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 intron_variant 0.161455 0.23843 0.12021 0.053691 0.7716976 0.0483 0.1261041 FALSE 3.61899e-05 ENSE00001388950_027 ENSE00001388950 027 17 74942405 74942574 + 53 75 42 T A 74942563 3153 159 GGTCTGACAGGTTCTGGGGCAGGGACCAGAGGGCTCACTGACCTGGTGCTGGATGTAGGCGTGGATCCGCTCCAGCATCCCCTCGCAGGTGTACTCGTAGGGTAGGTAGGGGTCTACCTGTGGGAGGGATGGGCAGACACATGGGGCGGGAGAAGGCCCAGCCGTCGGGG 76946322 76946492 76946480 76946481 76946481 downstr_intron 31 1.756098 CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGAACCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC mutant 37 88 0.85 0.85 0.85 72 73 0.9144777 0.9680868 0.9412823 0.8303062 0.7938837 0.7277266 0.8355867 0.01969381 0.05611626 0.1867512 0.1325001 0.812095 0.7816566 0.03790504 0.1596257 0.1217206 FALSE FALSE 0 -0.749 . intron_variant&non_coding_transcript_variant MODIFIER MGAT5B HGNC 24140 ENST00000568598 1/2 1 NA ATC T,A 8.248e-06 17:76946481 MGAT5B HGNC Symbol protein_coding 81937 ENSG00000167889 ENSE00003684153 intron_variant 0.226977 0.23911 0.04618 0.053691 0.7728742 0.0691039 0.1261041 FALSE 5.15756e-06 ENSE00001388950_BRK ENSE00001388950 BRK 17 74942405 74942574 + 53 75 42 A,G; T,T NA NA NA CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACTTGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGCCCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC 76946322 76946492 NA NA NA NA NA NA CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACTTGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGCCCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC CCCCGACGGCTGGGCCTTCTCCCGCCCCATGTGTCTGCCCATCCCTCCCACAGGTAGACCCCTACCTACCCTACGAGTACACCTGCGAGGGGATGCTGGAGCGGATCCACGCCTACATCCAGCACCAGGTCAGTGAGCCCTCTGGTCCCTGCCCCAGATCCTGTCAGACC control 13 55 0.09727361 0 0.04863681 NA NA NA NA NA 0.8303062 0.7938837 0.7277266 0.8355867 -0.7330326 -0.7938837 NA NA 0.812095 0.7816566 -0.7634582 NA NA NA TRUE NA NA NA NA NA MGAT5B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MGAT5B NA NA NA ENSG00000167889 ENSE00003684153 NA NA NA NA NA NA NA 0.1261041 FALSE NA ENSE00001389298_000 ENSE00001389298 000 6 138550865 138551034 + 56 69 45 NA NA NA NA NA TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 NA NA NA NA NA NA TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT natural 70 45 0.9989614 0.997248 0.9981047 1852 2247 0.8962725 0.7582593 0.8272659 0.9989614 0.997248 0.8962725 0.7582593 0 0 0 0 0.9981047 0.8272659 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARFGEF3 NA NA NA ENSG00000112379 ENSE00001389298 NA NA NA NA NA NA NA NA NA NA ENSE00001389298_002 ENSE00001389298 002 6 138550865 138551034 + 56 69 45 C A 138550886 2233 22 TGAATTTCCATACTGTTAACCACTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229748 138229749 138229749 upstr_intron -35 -0.6071429 TGAATTTCCATACTGTTAACCACTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 78 200 1 1 1 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.1037275 0.2417407 0.9981047 0.8272659 NA 0.1727341 NA FALSE NA 0 0.488 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:138229749 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 intron_variant 0.449593 0.25194 0.08612 0.053691 0.5855093 0.0625711 NA NA 1.63883e-05 ENSE00001389298_003 ENSE00001389298 003 6 138550865 138551034 + 56 69 45 C T 138550886 2234 22 TGAATTTCCATACTGTTAACCTCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229748 138229749 138229749 upstr_intron -35 -0.6071429 TGAATTTCCATACTGTTAACCTCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 1370 150 0.9992161 0.99088 0.9950481 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.1029436 0.2326207 0.9981047 0.8272659 NA 0.1677821 NA FALSE NA 0 0.488 NA NA NA KIAA1244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARFGEF3 NA NA NA ENSG00000112379 ENSE00001389298 intron_variant 0.465205 0.22726 0.06687 0.053691 0.6161037 0.0625711 NA NA 4.09708e-06 ENSE00001389298_005 ENSE00001389298 005 6 138550865 138551034 + 56 69 45 C T 138550910 2236 46 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCATCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229772 138229773 138229773 upstr_intron -11 -0.1785714 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCATCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 2097 235 0.9861641 0.9916147 0.9888894 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.08989155 0.2333554 0.9981047 0.8272659 NA 0.1616235 NA FALSE NA 0 -0.164 . intron_variant MODIFIER KIAA1244 HGNC 21213 ENST00000251691 4/33 1 NA ACC C 2.471e-05 6:138229773 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 intron_variant 0.382225 0.20325 0.03611 0.053691 0.5944218 0.0476878 NA NA 4.06951e-05 ENSE00001389298_006 ENSE00001389298 006 6 138550865 138551034 + 56 69 45 A G 138550926 2237 62 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTGCTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229788 138229789 138229789 exon 6 0.08695652 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTGCTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 397 863 1 0.9978095 0.9989047 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.1037275 0.2395502 0.9981047 0.8272659 NA 0.1716388 NA FALSE NA 0.993 0.332 . synonymous_variant LOW KIAA1244 HGNC 21213 ENST00000251691 5/34 1 NA TAC A 8.237e-06 6:138229789 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 synonymous_variant -0.06436 0.96647 0.46344 0.706298 0.3112151 0 NA NA 8.13259e-06 ENSE00001389298_007 ENSE00001389298 007 6 138550865 138551034 + 56 69 45 A G 138550933 2238 69 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCGTCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229795 138229796 138229796 exon 13 0.1884058 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCGTCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 446 1808 1 0.9441238 0.9720619 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.1037275 0.1858645 0.9981047 0.8272659 NA 0.144796 NA FALSE NA 1 3.665 . missense_variant MODERATE KIAA1244 HGNC 21213 ENST00000251691 5/34 1 tolerated(0.31) benign(0.026) NA CAT A 8.237e-06 6:138229796 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 missense_variant 0.384802 0.98342 0.92072 0.706298 0.6123953 0 NA NA 8.13147e-06 ENSE00001389298_008 ENSE00001389298 008 6 138550865 138551034 + 56 69 45 C G 138550938 2239 74 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACGTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229800 138229801 138229801 exon 18 0.2608696 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACGTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 13 418 1 0.9999089 0.9999545 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.1037275 0.2416496 0.9981047 0.8272659 NA 0.1726885 NA FALSE NA 1 0.715 . synonymous_variant LOW KIAA1244 HGNC 21213 ENST00000251691 5/34 1 NA CCT C 8.237e-06 6:138229801 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 synonymous_variant 0.693624 0.97392 0.82991 0.706298 0.4334938 0 NA NA 4.06567e-06 ENSE00001389298_009 ENSE00001389298 009 6 138550865 138551034 + 56 69 45 A G 138550940 2240 76 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTGCACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229802 138229803 138229803 exon 20 0.2898551 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTGCACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 11 2916 0.8302489 0.9953532 0.9128011 0.9989614 0.997248 0.8962725 0.7582593 NA NA -0.06602364 0.2370939 0.9981047 0.8272659 NA 0.08553515 NA FALSE NA 1 5.456 . missense_variant MODERATE KIAA1244 HGNC 21213 ENST00000251691 5/34 1 deleterious(0.05) benign(0.138) NA TAC A 8.237e-06 6:138229803 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 missense_variant 2.155662 0.98711 0.95564 0.706298 0.9957641 0 NA NA 8.1318e-06 ENSE00001389298_011 ENSE00001389298 011 6 138550865 138551034 + 56 69 45 G T 138550964 2242 100 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGTGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229826 138229827 138229827 exon -26 0.6376812 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGTGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 158 250 0.9921482 1 0.9960741 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.09587565 0.2417407 0.9981047 0.8272659 NA 0.1688082 NA FALSE NA 1 8.933 . missense_variant MODERATE KIAA1244 HGNC 21213 ENST00000251691 5/34 1 deleterious(0) probably_damaging(0.997) NA GGG G 8.237e-06 6:138229827 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 missense_variant 6.402881 0.99603 0.99339 0.706298 0.9982809 0 NA NA 4.0658e-06 ENSE00001389298_013 ENSE00001389298 013 6 138550865 138551034 + 56 69 45 G A 138550972 2244 108 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCATGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229834 138229835 138229835 exon -18 0.7536232 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCATGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 419 1337 0.9971164 0.9913445 0.9942304 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.1008438 0.2330852 0.9981047 0.8272659 NA 0.1669645 NA FALSE NA 1 4.605 . missense_variant MODERATE KIAA1244 HGNC 21213 ENST00000251691 5/34 rs370600463 1 deleterious(0) possibly_damaging(0.668) NA CGT G 3.295e-05 6:138229835 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 missense_variant 6.173682 0.98438 0.9034 0.706298 0.9984654 0 NA NA 3.25256e-05 ENSE00001389298_014 ENSE00001389298 014 6 138550865 138551034 + 56 69 45 C G 138550983 2245 119 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATGGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229845 138229846 138229846 exon -7 0.9130435 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATGGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 114 19 1 1 1 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.1037275 0.2417407 0.9981047 0.8272659 NA 0.1727341 NA FALSE NA 0.471 -0.34 . missense_variant MODERATE KIAA1244 HGNC 21213 ENST00000251691 5/34 COSM3621049&COSM3621048 1 deleterious(0) possibly_damaging(0.674) NA TCG C 8.237e-06 6:138229846 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 missense_variant 5.156169 0.97823 0.61232 0.706298 0.9784287 0 NA NA 4.06699e-06 ENSE00001389298_016 ENSE00001389298 016 6 138550865 138551034 + 56 69 45 G A 138550986 2247 122 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCAGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229848 138229849 138229849 exon -4 0.9565217 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCAGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 253 429 0.9998372 0.8863449 0.9430911 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.1035647 0.1280856 0.9981047 0.8272659 NA 0.1158251 NA FALSE NA 0 -4.683 . synonymous_variant LOW KIAA1244 HGNC 21213 ENST00000251691 5/34 rs563084151 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G 1.647e-05 6:138229849 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 synonymous_variant 1.547942 0.16323 0.01933 0.706298 0.6874556 0 NA NA 1.62723e-05 ENSE00001389298_017 ENSE00001389298 017 6 138550865 138551034 + 56 69 45 G A 138551005 2248 141 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTATCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 138229867 138229868 138229868 downstr_intron 16 1.363636 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTATCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 271 299 0.9931436 1 0.9965718 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.09687105 0.2417407 0.9981047 0.8272659 NA 0.1693059 NA FALSE NA 0.004 -0.095 NA NA NA KIAA1244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:138229868 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 intron_variant 1.442183 0.27017 0.11727 0.06567 0.8214613 0.0513024 NA NA 5.70098e-05 ENSE00001389298_019 ENSE00001389298 019 6 138550865 138551034 + 56 69 45 T C 138551017 2250 153 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCCGTTCACAGCTGCTTTAT 138229727 138229897 138229879 138229880 138229880 downstr_intron 28 1.636364 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCCGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 201 270 0.9906283 0.9764439 0.9835361 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.09435581 0.2181846 0.9981047 0.8272659 NA 0.1562702 NA FALSE NA 0.109 0.658 . intron_variant MODIFIER KIAA1244 HGNC 21213 ENST00000251691 5/33 1 NA CTG T 1.647e-05 6:138229880 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 intron_variant 1.192785 0.92197 0.27669 0.06567 0.7059938 0.0513024 NA NA 8.17127e-06 ENSE00001389298_020 ENSE00001389298 020 6 138550865 138551034 + 56 69 45 T C 138551019 2251 155 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGCTCACAGCTGCTTTAT 138229727 138229897 138229881 138229882 138229882 downstr_intron 30 1.681818 TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGCTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT mutant NA NA NA NA NA 112 1114 0.9819135 0.9967588 0.9893361 0.9989614 0.997248 0.8962725 0.7582593 NA NA 0.08564096 0.2384994 0.9981047 0.8272659 NA 0.1620702 NA FALSE NA 0.166 0.734 . intron_variant MODIFIER KIAA1244 HGNC 21213 ENST00000251691 5/33 1 NA GTT T 1.647e-05 6:138229882 ARFGEF3 HGNC Symbol protein_coding 182742 ENSG00000112379 ENSE00001389298 intron_variant 0.761978 0.49333 0.00212 0.06567 0.6492022 0.0513024 NA NA 1.22577e-05 ENSE00001389298_BRK ENSE00001389298 BRK 6 138550865 138551034 + 56 69 45 A,G; T,T NA NA NA TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAATTGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGCCGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT 138229727 138229897 NA NA NA NA NA NA TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAATTGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGCCGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT TGAATTTCCATACTGTTAACCCCTTGTCTCTTCTTTCATCTCTCACCTTGTTAAAGGTTTTACTATGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGAGTACTGCTTGTGTCTGTGCCTCCTGTTCACAGCTGCTTTAT control 272 64 0 0 0 NA NA NA NA NA 0.9989614 0.997248 0.8962725 0.7582593 -0.9989614 -0.997248 NA NA 0.9981047 0.8272659 -0.9981047 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001389298 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001390001_000 ENSE00001390001 000 17 41341008 41341177 + 51 78 41 NA NA NA NA NA TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 NA NA NA NA NA NA TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG natural 11 12 0.9871015 0.9418993 0.9645004 1911 1962 0.9888432 0.9905471 0.9896951 0.9871015 0.9418993 0.9888432 0.9905471 0 0 0 0 0.9645004 0.9896951 0 0 0 FALSE FALSE NA NA NA NA NA NBR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NBR1 NA NA NA ENSG00000188554 ENSE00001390001 NA NA NA NA NA NA NA 0.0004367069 FALSE NA ENSE00001390001_001 ENSE00001390001 001 17 41341008 41341177 + 51 78 41 C A 41341027 2094 20 TTTTAAATAGAAAAAGTAAACTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189009 43189010 43189010 upstr_intron -32 -0.6078431 TTTTAAATAGAAAAAGTAAACTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 388 601 0.8582504 1 0.9291252 0.9871015 0.9418993 0.9888432 0.9905471 NA NA -0.1305928 0.009452938 0.9645004 0.9896951 NA -0.06056991 NA FALSE NA 0 -0.051 rs117796976 intron_variant MODIFIER NBR1 HGNC 6746 ENST00000422280 6/20 rs117796976 1 A:0.0190 A:0.0045 A:0.0793 NA A:0 A:0.0249 A:0.0092 A:0.0093 A:0.0351 ACC C,A 0.04 17:43189010 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 intron_variant 0.901114 0.16726 0.10169 0.295142 0.6596755 0.119757 0.0004367069 FALSE 0.0433648 ENSE00001390001_002 ENSE00001390001 002 17 41341008 41341177 + 51 78 41 C T 41341028 2095 21 TTTTAAATAGAAAAAGTAACTTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189010 43189011 43189011 upstr_intron -31 -0.5882353 TTTTAAATAGAAAAAGTAACTTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 629 342 0.9988354 1 0.9994177 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.009992237 0.009452938 0.9645004 0.9896951 NA 0.009722587 NA FALSE NA 0 -0.276 . intron_variant MODIFIER NBR1 HGNC 6746 ENST00000422280 6/20 1 NA CCT C,T 8.278e-06 17:43189011 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 intron_variant 0.769104 0.22134 0.10687 0.295142 0.6967917 0.119757 0.0004367069 FALSE 4.07515e-06 ENSE00001390001_003 ENSE00001390001 003 17 41341008 41341177 + 51 78 41 C T 41341030 2096 23 TTTTAAATAGAAAAAGTAACCTTTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189012 43189013 43189013 upstr_intron -29 -0.5490196 TTTTAAATAGAAAAAGTAACCTTTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 938 244 0.9960107 0.9993513 0.997681 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.007167568 0.008804219 0.9645004 0.9896951 NA 0.007985893 NA FALSE NA 0 -0.002 . intron_variant MODIFIER NBR1 HGNC 6746 ENST00000422280 6/20 1 NA TCT C,T 8.277e-06 17:43189013 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 intron_variant 0.697798 0.1803 0.12156 0.295142 0.7196225 0.12107 0.0004367069 FALSE 4.07309e-06 ENSE00001390001_005 ENSE00001390001 005 17 41341008 41341177 + 51 78 41 C A 41341039 2098 32 TTTTAAATAGAAAAAGTAACCTCTAACATCTAGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189021 43189022 43189022 upstr_intron -20 -0.372549 TTTTAAATAGAAAAAGTAACCTCTAACATCTAGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 402 135 1 0.9988267 0.9994133 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.01115685 0.008279626 0.9645004 0.9896951 NA 0.009718237 NA FALSE NA 0.218 0.161 . intron_variant MODIFIER NBR1 HGNC 6746 ENST00000422280 6/20 1 NA TCG C,A 8.277e-06 17:43189022 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 intron_variant 0.244447 0.37774 0.14376 0.295142 0.5849857 0.12107 0.0004367069 FALSE 8.12995e-06 ENSE00001390001_006 ENSE00001390001 006 17 41341008 41341177 + 51 78 41 G A 41341040 2099 33 TTTTAAATAGAAAAAGTAACCTCTAACATCTCAGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189022 43189023 43189023 upstr_intron -19 -0.3529412 TTTTAAATAGAAAAAGTAACCTCTAACATCTCAGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 670 265 0.999075 0.9961765 0.9976258 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.01023184 0.005629471 0.9645004 0.9896951 NA 0.007930657 NA FALSE NA 0.001 -0.489 . intron_variant MODIFIER NBR1 HGNC 6746 ENST00000422280 6/20 1 NA CGG G,A 1.655e-05 17:43189023 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 intron_variant 0.29902 0.24381 0.10528 0.295142 0.5275484 0.12107 0.0004367069 FALSE 1.21934e-05 ENSE00001390001_007 ENSE00001390001 007 17 41341008 41341177 + 51 78 41 C A 41341055 2100 48 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCACAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189037 43189038 43189038 upstr_intron -4 -0.05882353 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCACAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 908 750 0.996106 0.9878026 0.9919543 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.007262804 -0.002744491 0.9645004 0.9896951 NA 0.002259157 NA FALSE NA 0 -1.304 . splice_region_variant&intron_variant LOW NBR1 HGNC 6746 ENST00000422280 6/20 1 NA CCC C,A 8.278e-06 17:43189038 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 splice_region_variant 0.928984 0.13315 0.02252 0.295142 0.5435068 0.178152 0.0004367069 FALSE 8.12592e-06 ENSE00001390001_008 ENSE00001390001 008 17 41341008 41341177 + 51 78 41 G A 41341061 2101 54 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCATTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189043 43189044 43189044 exon 3 0.03846154 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCATTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 564 823 0.9957652 1 0.9978826 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.006922017 0.009452938 0.9645004 0.9896951 NA 0.008187477 NA FALSE NA 0.003 -0.141 . splice_region_variant&synonymous_variant LOW NBR1 HGNC 6746 ENST00000422280 7/21 1 NA CGT G,A 1.655e-05 17:43189044 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 splice_region_variant 0.09515 0.15684 0.01755 0.706548 0.5511925 0 0.0004367069 FALSE 1.62483e-05 ENSE00001390001_009 ENSE00001390001 009 17 41341008 41341177 + 51 78 41 T C 41341064 2102 57 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTCCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189046 43189047 43189047 exon 6 0.07692308 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTCCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 902 309 0.998577 1 0.9992885 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.009733837 0.009452938 0.9645004 0.9896951 NA 0.009593387 NA FALSE NA 0.214 0.14 . synonymous_variant LOW NBR1 HGNC 6746 ENST00000422280 7/21 rs368029325 1 NA TTC T,C 8.277e-06 17:43189047 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 synonymous_variant -1.074464 0.28943 0.36408 0.706548 0.3855592 0 0.0004367069 FALSE 4.0618e-06 ENSE00001390001_010 ENSE00001390001 010 17 41341008 41341177 + 51 78 41 C T 41341065 2103 58 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTTCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189047 43189048 43189048 exon 7 0.08974359 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTTCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 535 54 1 1 1 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.01115685 0.009452938 0.9645004 0.9896951 NA 0.01030489 NA FALSE NA 0.22 0.614 . missense_variant MODERATE NBR1 HGNC 6746 ENST00000422280 7/21 1 tolerated(0.4) benign(0.015) NA TCC C,T 8.277e-06 17:43189048 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 missense_variant -0.438403 0.3582 0.30605 0.706548 0.1366445 0 0.0004367069 FALSE 4.06263e-06 ENSE00001390001_011 ENSE00001390001 011 17 41341008 41341177 + 51 78 41 A G 41341067 2104 60 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCGCTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189049 43189050 43189050 exon 9 0.1153846 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCGCTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 231 13 0.9953233 1 0.9976617 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.006480152 0.009452938 0.9645004 0.9896951 NA 0.007966545 NA FALSE NA 0.204 0.464 . synonymous_variant LOW NBR1 HGNC 6746 ENST00000422280 7/21 1 NA CAC A,G 8.277e-06 17:43189050 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 synonymous_variant -0.52045 0.20769 0.16789 0.706548 0.4373175 0 0.0004367069 FALSE 4.06213e-06 ENSE00001390001_012 ENSE00001390001 012 17 41341008 41341177 + 51 78 41 A G 41341076 2105 69 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCGTGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189058 43189059 43189059 exon 18 0.2307692 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCGTGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 391 492 0.9844163 0.9976452 0.9910308 0.9871015 0.9418993 0.9888432 0.9905471 NA NA -0.004426824 0.007098112 0.9645004 0.9896951 NA 0.001335644 NA FALSE NA 0.005 -0.673 . synonymous_variant LOW NBR1 HGNC 6746 ENST00000422280 7/21 1 NA CAT A,G 8.276e-06 17:43189059 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 synonymous_variant -0.238592 0.11868 0.02294 0.706548 0.2965606 0 0.0004367069 FALSE 1.21845e-05 ENSE00001390001_013 ENSE00001390001 013 17 41341008 41341177 + 51 78 41 C G 41341092 2106 85 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGGCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189074 43189075 43189075 exon 34 0.4358974 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGGCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 778 687 1 0.998094 0.999047 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.01115685 0.007546962 0.9645004 0.9896951 NA 0.009351905 NA FALSE NA 0.996 0.195 . missense_variant MODERATE NBR1 HGNC 6746 ENST00000422280 7/21 1 tolerated(0.46) benign(0.003) NA GCC C,G 8.275e-06 17:43189075 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 missense_variant 1.215934 0.96776 0.64934 0.706548 0.928568 0 0.0004367069 FALSE 4.06134e-06 ENSE00001390001_014 ENSE00001390001 014 17 41341008 41341177 + 51 78 41 A C 41341097 2107 90 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCACGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189079 43189080 43189080 exon 39 0.5 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCACGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant 65 15 0.9977603 1 0.9988801 1892 1270 0.9966517 0.9973806 0.9970161 0.9871015 0.9418993 0.9888432 0.9905471 0.01065872 0.05810067 0.007808553 0.006833503 0.9645004 0.9896951 0.0343797 0.007321028 0.02705867 FALSE FALSE 0.966 -0.453 . missense_variant MODERATE NBR1 HGNC 6746 ENST00000422280 7/21 1 tolerated(0.08) benign(0.005) NA AAG A,C 8.274e-06 17:43189080 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 missense_variant 2.047107 0.95008 0.59042 0.706548 0.9736099 0 0.0004367069 FALSE NA ENSE00001390001_015 ENSE00001390001 015 17 41341008 41341177 + 51 78 41 A G 41341126 2108 119 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTGCCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189108 43189109 43189109 exon -11 0.8717949 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTGCCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 170 36 1 0.9955812 0.9977906 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.01115685 0.005034155 0.9645004 0.9896951 NA 0.008095501 NA FALSE NA 1 3.177 . missense_variant MODERATE NBR1 HGNC 6746 ENST00000422280 7/21 COSM3958415&COSM3958414 1 deleterious(0) probably_damaging(0.921) NA TAC A,G 8.274e-06 17:43189109 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 missense_variant 5.613423 0.97215 0.97719 0.706548 0.9980285 0 0.0004367069 FALSE 4.06134e-06 ENSE00001390001_016 ENSE00001390001 016 17 41341008 41341177 + 51 78 41 C T 41341127 2109 120 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTATCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189109 43189110 43189110 exon -10 0.8846154 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTATCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 99 355 1 1 1 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.01115685 0.009452938 0.9645004 0.9896951 NA 0.01030489 NA FALSE NA 1 1.78 . synonymous_variant LOW NBR1 HGNC 6746 ENST00000422280 7/21 1 NA ACC C,T 8.274e-06 17:43189110 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 synonymous_variant 1.116228 0.96672 0.93994 0.706548 0.4511502 0 0.0004367069 FALSE 4.06134e-06 ENSE00001390001_017 ENSE00001390001 017 17 41341008 41341177 + 51 78 41 A G 41341132 2110 125 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGGGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189114 43189115 43189115 exon -5 0.9487179 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGGGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 900 511 0.9945693 0.9996904 0.9971298 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.005726141 0.009143316 0.9645004 0.9896951 NA 0.007434729 NA FALSE NA 1 3.956 . missense_variant MODERATE NBR1 HGNC 6746 ENST00000422280 7/21 rs368328329 1 deleterious(0) probably_damaging(0.945) NA G:0 G:0.0001 GAG A,G 8.274e-06 17:43189115 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 missense_variant 6.327586 0.98868 0.98728 0.706548 0.9991561 0 0.0004367069 FALSE 8.12295e-06 ENSE00001390001_018 ENSE00001390001 018 17 41341008 41341177 + 51 78 41 C T 41341135 2111 128 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGATGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189117 43189118 43189118 exon -2 0.9871795 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGATGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 191 451 0.9870918 0.9174869 0.9522893 0.9871015 0.9418993 0.9888432 0.9905471 NA NA -0.001751366 -0.07306016 0.9645004 0.9896951 NA -0.03740576 NA FALSE NA 0.502 0.371 . missense_variant&splice_region_variant MODERATE NBR1 HGNC 6746 ENST00000422280 7/21 rs372269996 1 deleterious(0.04) benign(0.133) NA T:0.0003 T:0 ACG C,T 2.482e-05 17:43189118 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 missense_variant 2.640234 0.92426 0.65659 0.706548 0.956079 0 0.0004367069 FALSE 3.24921e-05 ENSE00001390001_019 ENSE00001390001 019 17 41341008 41341177 + 51 78 41 G A 41341136 2112 129 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACAGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189118 43189119 43189119 exon -1 1 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACAGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant 23 23 0.85 0.85 0.85 454 901 0.8003549 0.7991843 0.7997696 0.9871015 0.9418993 0.9888432 0.9905471 -0.1371015 -0.09189933 -0.1884883 -0.1913628 0.9645004 0.9896951 -0.1145004 -0.1899255 0.0754251 FALSE FALSE 0.341 -0.287 . splice_region_variant&synonymous_variant LOW NBR1 HGNC 6746 ENST00000422280 7/21 1 NA CGG G,A 2.482e-05 17:43189119 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 splice_region_variant 1.562202 0.8683 0.04972 0.706548 0.6657185 0 0.0004367069 FALSE 1.62468e-05 ENSE00001390001_020 ENSE00001390001 020 17 41341008 41341177 + 51 78 41 T C 41341144 2113 137 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGCTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189126 43189127 43189127 downstr_intron 8 1.2 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGCTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 644 2082 1 0.996603 0.9983015 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.01115685 0.006055892 0.9645004 0.9896951 NA 0.00860637 NA FALSE NA 0.901 1.923 . splice_region_variant&intron_variant LOW NBR1 HGNC 6746 ENST00000422280 7/20 rs553910819 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTT T,C 8.273e-06 17:43189127 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 splice_region_variant 0.84206 0.27304 0.45113 0.062308 0.6570304 0.310615 0.0004367069 FALSE 4.06138e-06 ENSE00001390001_021 ENSE00001390001 021 17 41341008 41341177 + 51 78 41 C T 41341152 2114 145 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTTGCTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189134 43189135 43189135 downstr_intron 16 1.4 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTTGCTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 172 29 0.9985555 1 0.9992778 0.9871015 0.9418993 0.9888432 0.9905471 NA NA 0.009712354 0.009452938 0.9645004 0.9896951 NA 0.009582646 NA FALSE NA 0 -1.211 . intron_variant MODIFIER NBR1 HGNC 6746 ENST00000422280 7/20 1 NA TCG C,T 1.655e-05 17:43189135 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 intron_variant 0.926134 0.19062 0.0223 0.091178 0.7051231 0.319653 0.0004367069 FALSE 1.62487e-05 ENSE00001390001_022 ENSE00001390001 022 17 41341008 41341177 + 51 78 41 G A 41341153 2115 146 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCACTTGGGTTTTAACTGCGGTGTTGG 43188990 43189160 43189135 43189136 43189136 downstr_intron 17 1.425 TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCACTTGGGTTTTAACTGCGGTGTTGG TTTTAAATAGAAAAAGTAACCTCTAACATCTCGGCTTGTGTTTTCTCCCAGTCGTTTCCACTTGTTCCATGTGACACAGACCAGCCTCAAGACAAGCCCCCAGACTGGTTCACAAGCTACCTGGAGACGGTGAGTGTTCTGTCTCGCTTGGGTTTTAACTGCGGTGTTGG mutant NA NA NA NA NA 1495 38 0.9489721 0.988323 0.9686475 0.9871015 0.9418993 0.9888432 0.9905471 NA NA -0.03987108 -0.002224103 0.9645004 0.9896951 NA -0.02104759 NA FALSE NA 0 -0.436 rs2271572 intron_variant MODIFIER NBR1 HGNC 6746 ENST00000422280 7/20 rs2271572 1 A:0.0008 A:0 A:0.0014 NA A:0.002 A:0 A:0.001 A:0.0008 A:0.006 CGC G,A 0.00503 17:43189136 NBR1 HGNC Symbol protein_coding 41208 ENSG00000188554 ENSE00001390001 intron_variant 0.869488 0.1669 0.05447 0.091178 0.7031059 0.250534 0.0004367069 FALSE 0.00514258 ENSE00001390125_000 ENSE00001390125 000 20 61467199 61467368 + 74 33 63 NA NA NA NA NA TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 NA NA NA NA NA NA TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC natural 106 28 0.9061401 0.9946653 0.9504027 505 154 0.9869996 0.9878035 0.9874015 0.9061401 0.9946653 0.9869996 0.9878035 0 0 0 0 0.9504027 0.9874015 0 0 0 FALSE FALSE NA NA NA NA NA COL9A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A3 NA NA NA ENSG00000092758 ENSE00003634520 NA NA NA NA NA NA NA 3.249166e-05 FALSE NA ENSE00001390125_002 ENSE00001390125 002 20 61467199 61467368 + 74 33 63 C T 61467230 1963 32 TTTATCCTCAACTGGCTACTTCCCACCCACCTAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835877 62835878 62835878 upstr_intron -43 -0.5675676 TTTATCCTCAACTGGCTACTTCCCACCCACCTAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 439 193 0.86554 1 0.93277 0.9061401 0.9946653 0.9869996 0.9878035 NA NA -0.1214596 0.01219654 0.9504027 0.9874015 NA -0.05463152 NA FALSE NA 0 -0.492 . intron_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 1/1 rs561332343 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCA C,T 8.236e-06 20:62835878 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 intron_variant -0.31592 0.05061 0.00408 0.106106 0.5569817 0.0870774 3.249166e-05 FALSE 4.06105e-06 ENSE00001390125_004 ENSE00001390125 004 20 61467199 61467368 + 74 33 63 A G 61467239 1965 41 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACGCTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835886 62835887 62835887 upstr_intron -34 -0.4459459 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACGCTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 67 167 0.9699523 1 0.9849762 0.9061401 0.9946653 0.9869996 0.9878035 NA NA -0.01704728 0.01219654 0.9504027 0.9874015 NA -0.002425371 NA FALSE NA 0.001 -0.621 . intron_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 1/1 1 NA CAC A,G 8.236e-06 20:62835887 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 intron_variant -0.063774 0.12829 0.00826 0.106106 0.4553608 0.0870774 3.249166e-05 FALSE 4.06105e-06 ENSE00001390125_005 ENSE00001390125 005 20 61467199 61467368 + 74 33 63 A G 61467257 1966 59 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAGCTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835904 62835905 62835905 upstr_intron -16 -0.2027027 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAGCTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 15 169 0.8170552 0.8 0.8085276 0.9061401 0.9946653 0.9869996 0.9878035 NA NA -0.1699444 -0.1878035 0.9504027 0.9874015 NA -0.1788739 NA FALSE NA 0.059 0.837 . intron_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 1/1 1 NA AAC A,G 1.647e-05 20:62835905 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 intron_variant -0.49637 0.05997 0.00846 0.106106 0.4032003 0.122059 3.249166e-05 FALSE 1.2183e-05 ENSE00001390125_007 ENSE00001390125 007 20 61467199 61467368 + 74 33 63 C T 61467281 1968 83 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGTGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835928 62835929 62835929 exon 9 0.2727273 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGTGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 1547 688 0.9101747 0.9864281 0.9483014 0.9061401 0.9946653 0.9869996 0.9878035 NA NA -0.07682489 -0.001375409 0.9504027 0.9874015 NA -0.03910015 NA FALSE NA 0 -0.204 rs147176983 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 rs147176983&COSM346618 1 NA T:0.0005 T:0 GCG C,T 9.06e-05 20:62835929 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 synonymous_variant 1.602702 0.23635 0.00664 0.732398 0.4921274 0 3.249166e-05 FALSE 9.74627e-05 ENSE00001390125_009 ENSE00001390125 009 20 61467199 61467368 + 74 33 63 C T 61467290 1970 92 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTTGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835937 62835938 62835938 exon -16 0.5454545 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTTGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 405 19 1 1 1 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01300038 0.01219654 0.9504027 0.9874015 NA 0.01259846 NA FALSE NA 0 -1.991 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 rs374277799 1 NA A:0 A:0.0001 TCG C,T 1.647e-05 20:62835938 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 synonymous_variant 1.465975 0.10034 0.00614 0.732398 0.7018339 0 3.249166e-05 FALSE 2.03049e-05 ENSE00001390125_010 ENSE00001390125 010 20 61467199 61467368 + 74 33 63 G A 61467291 1971 93 GGTGGGCAGGAAGCCAGCAGGCGCCCATGGATGGTGTCATCGGAACAGTCGCCGGGCACTCACCTCTCCTTTGGGTCTGACCAGGCCGCTGGGACCCTGTGAAGAGAAAAGTTGTGTGTTTGAACTAAGTGTATTGTTGGGTGGGTGGGAAGTAGCCAGTTGAGGATAAA 62835846 62836016 62835938 62835939 62835939 exon -15 0.5757576 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCAGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 211 246 1 1 1 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01300038 0.01219654 0.9504027 0.9874015 NA 0.01259846 NA FALSE NA 1 8.081 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 1 NA CGG G,A 8.237e-06 20:62835939 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 missense_variant 6.082594 0.99198 0.99421 0.732398 0.9981078 0 3.249166e-05 FALSE 4.06098e-06 ENSE00001390125_011 ENSE00001390125 011 20 61467199 61467368 + 74 33 63 C T 61467315 1972 117 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCTGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835962 62835963 62835963 downstr_intron 10 1.16129 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCTGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 118 45 1 1 1 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01300038 0.01219654 0.9504027 0.9874015 NA 0.01259846 NA FALSE NA 0 -5.052 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 rs377161266 1 NA T:0.0002 T:0.0002 CCG C,T 7.413e-05 20:62835963 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 non_coding_transcript_exon_variant -0.570719 0.08951 0.00484 0.163922 0.5730931 0.0476178 3.249166e-05 FALSE 7.31059e-05 ENSE00001390125_014 ENSE00001390125 014 20 61467199 61467368 + 74 33 63 C T 61467318 1975 120 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGTGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835965 62835966 62835966 downstr_intron 13 1.209677 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGTGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 454 101 0.99909 1 0.999545 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01209038 0.01219654 0.9504027 0.9874015 NA 0.01214346 NA FALSE NA 0 -0.065 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 rs201580500 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GCG C,T 0.0002718 20:62835966 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 non_coding_transcript_exon_variant 0.017078 0.21064 0.02279 0.163922 0.3656556 0.0476178 3.249166e-05 FALSE 0.000255892 ENSE00001390125_016 ENSE00001390125 016 20 61467199 61467368 + 74 33 63 C T 61467327 1977 129 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCTGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835974 62835975 62835975 downstr_intron 22 1.354839 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCTGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 33 160 1 1 1 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01300038 0.01219654 0.9504027 0.9874015 NA 0.01259846 NA FALSE NA 0 0.121 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 rs200544421 1 NA CCG C,T 3.295e-05 20:62835975 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 non_coding_transcript_exon_variant -0.122884 0.08508 0.00931 0.163922 0.543962 0.0476178 3.249166e-05 FALSE 4.87492e-05 ENSE00001390125_017 ENSE00001390125 017 20 61467199 61467368 + 74 33 63 G A 61467328 1978 130 GGTGGGCAGGAAGCCAGCAGGCGCCCATGGATGGTGTCATTGGAACAGTCGCCGGGCACTCACCTCTCCTTTGGGTCCGACCAGGCCGCTGGGACCCTGTGAAGAGAAAAGTTGTGTGTTTGAACTAAGTGTATTGTTGGGTGGGTGGGAAGTAGCCAGTTGAGGATAAA 62835846 62836016 62835975 62835976 62835976 downstr_intron 23 1.370968 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCAATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 430 517 0.997093 0.977245 0.987169 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01009334 -0.0105585 0.9504027 0.9874015 NA -0.0002325769 NA FALSE NA 0 -4.403 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 rs201736906 1 A:0.0006 A:0 A:0.0029 NA A:0 A:0.001 A:0 A:0 A:0.0002 CGA G,A 0.0004942 20:62835976 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 non_coding_transcript_exon_variant -0.816575 0.04747 0.0022 0.163922 0.5652028 0.0476178 3.249166e-05 FALSE 0.000544353 ENSE00001390125_018 ENSE00001390125 018 20 61467199 61467368 + 74 33 63 C A 61467333 1979 135 GGTGGGCAGGAAGCCAGCAGGCGCCCATGGATGGTTTCATCGGAACAGTCGCCGGGCACTCACCTCTCCTTTGGGTCCGACCAGGCCGCTGGGACCCTGTGAAGAGAAAAGTTGTGTGTTTGAACTAAGTGTATTGTTGGGTGGGTGGGAAGTAGCCAGTTGAGGATAAA 62835846 62836016 62835980 62835981 62835981 downstr_intron 28 1.451613 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGAAACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 39 490 1 0.9811438 0.9905719 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01300038 -0.006659651 0.9504027 0.9874015 NA 0.003170366 NA FALSE NA 0 -0.056 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 1 NA ACA C,A 8.236e-06 20:62835981 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 non_coding_transcript_exon_variant -0.043183 0.10849 0.01596 0.163922 0.6396422 0.0476178 3.249166e-05 FALSE 8.1248e-06 ENSE00001390125_019 ENSE00001390125 019 20 61467199 61467368 + 74 33 63 A G 61467341 1980 143 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCGTGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 62835988 62835989 62835989 downstr_intron 36 1.580645 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCGTGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 349 303 0.9847625 0.9994777 0.9921201 0.9061401 0.9946653 0.9869996 0.9878035 NA NA -0.002237143 0.01167423 0.9504027 0.9874015 NA 0.004718542 NA FALSE NA 0 -0.479 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 rs370247399 1 NA G:0 G:0.0002 CAT A,G 1.647e-05 20:62835989 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 non_coding_transcript_exon_variant -0.113013 0.10887 0.00359 0.163922 0.2971983 0.0476178 3.249166e-05 FALSE 8.12658e-06 ENSE00001390125_021 ENSE00001390125 021 20 61467199 61467368 + 74 33 63 G A 61467347 1982 149 GGTGGGCAGGAAGCCAGCAGGTGCCCATGGATGGTGTCATCGGAACAGTCGCCGGGCACTCACCTCTCCTTTGGGTCCGACCAGGCCGCTGGGACCCTGTGAAGAGAAAAGTTGTGTGTTTGAACTAAGTGTATTGTTGGGTGGGTGGGAAGTAGCCAGTTGAGGATAAA 62835846 62836016 62835994 62835995 62835995 downstr_intron 42 1.677419 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCACCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 331 41 1 1 1 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01300038 0.01219654 0.9504027 0.9874015 NA 0.01259846 NA FALSE NA 0 0.718 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 rs374489313 1 NA A:0.0002 A:0 CGC G,A 4.118e-05 20:62835995 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 non_coding_transcript_exon_variant 0.231624 0.19707 0.02541 0.163922 0.8312174 0.0476178 3.249166e-05 FALSE 4.06527e-05 ENSE00001390125_022 ENSE00001390125 022 20 61467199 61467368 + 74 33 63 C T 61467349 1983 151 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCTTGCTGGCTTCCTGCCCACC 62835846 62836016 62835996 62835997 62835997 downstr_intron 44 1.709677 TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCTTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC mutant NA NA NA NA NA 19 36 1 1 1 0.9061401 0.9946653 0.9869996 0.9878035 NA NA 0.01300038 0.01219654 0.9504027 0.9874015 NA 0.01259846 NA FALSE NA 0.006 0.78 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A3 HGNC 2219 ENST00000472880 2/2 1 NA CCT C,T 1.647e-05 20:62835997 COL9A3 HGNC Symbol protein_coding 24915 ENSG00000092758 ENSE00003634520 non_coding_transcript_exon_variant 0.374262 0.16742 0.01756 0.163922 0.8478455 0.0872784 3.249166e-05 FALSE 2.03257e-05 ENSE00001390125_BRK ENSE00001390125 BRK 20 61467199 61467368 + 74 33 63 A,G; T,T NA NA NA TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACTTGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGCCGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC 62835846 62836016 NA NA NA NA NA NA TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACTTGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGCCGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC TTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACC control 493 134 0.01593533 0.004860754 0.01039804 120 258 0 0 0 0.9061401 0.9946653 0.9869996 0.9878035 -0.8902048 -0.9898045 -0.9869996 -0.9878035 0.9504027 0.9874015 -0.9400047 -0.9874015 0.04739689 TRUE TRUE NA NA NA NA NA COL9A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A3 NA NA NA ENSG00000092758 ENSE00003634520 NA NA NA NA NA NA NA 3.249166e-05 FALSE NA ENSE00001399563_000 ENSE00001399563 000 10 71665471 71665640 + 72 36 62 NA NA NA NA NA TCCAGTAGGCCACTGATTTGTCCAAAGTCCTGCCCCACTTGGGTCCTCCCCCTCCATCTTACCTTCCGGCCGTGGTAGCCCTGGATCCCTGGGTCTCCCTGGGAAAACAAAGAGAAGGCCATTAAAGAGGTTTTCCCACTGCCAAACTTTGACTTGTGCTGTTCCCCACA 69905714 69905884 NA NA NA NA NA NA TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA natural NA NA NA NA NA 146 306 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA COL13A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL13A1 NA NA NA ENSG00000197467 ENSE00001399563 NA NA NA NA NA NA NA 0.003928968 FALSE NA ENSE00001399563_003 ENSE00001399563 003 10 71665471 71665640 + 72 36 62 C G 71665558 1263 88 TCCAGTAGGCCACTGATTTGTCCAAAGTCCTGCCCCACTTGGGTCCTCCCCCTCCATCTTACCTTCCGGCCGTGGTAGCCCTCGATCCCTGGGTCTCCCTGGGAAAACAAAGAGAAGGCCATTAAAGAGGTTTTCCCACTGCCAAACTTTGACTTGTGCTGTTCCCCACA 69905714 69905884 69905801 69905802 69905802 exon 16 0.4444444 TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCGAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA mutant NA NA NA NA NA 25 67 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 4.389 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 16/37 rs200902481 1 tolerated(0.26) probably_damaging(0.989) G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 CCA C,G 1.655e-05 10:69905802 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00001399563 missense_variant 4.118089 0.98936 0.96694 0.706298 0.9872718 0 0.003928968 FALSE 8.14498e-06 ENSE00001399563_006 ENSE00001399563 006 10 71665471 71665640 + 72 36 62 G A 71665570 1266 100 TCCAGTAGGCCACTGATTTGTCCAAAGTCCTGCCCCACTTGGGTCCTCCCCCTCCATCTTACCTTCCGGCTGTGGTAGCCCTGGATCCCTGGGTCTCCCTGGGAAAACAAAGAGAAGGCCATTAAAGAGGTTTTCCCACTGCCAAACTTTGACTTGTGCTGTTCCCCACA 69905714 69905884 69905813 69905814 69905814 exon -9 0.7777778 TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACAGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA mutant NA NA NA NA NA 107 56 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 5.58 . missense_variant MODERATE COL13A1 HGNC 2190 ENST00000517713 16/37 1 deleterious(0.03) probably_damaging(1) NA CGG G,A 8.275e-06 10:69905814 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00001399563 missense_variant 5.597519 0.98881 0.96978 0.706298 0.9965932 0 0.003928968 FALSE 4.07362e-06 ENSE00001399563_012 ENSE00001399563 012 10 71665471 71665640 + 72 36 62 A C 71665602 1272 132 TCCAGTAGGCCACTGATTTGTCCAAAGTCCTGCCCCACGTGGGTCCTCCCCCTCCATCTTACCTTCCGGCCGTGGTAGCCCTGGATCCCTGGGTCTCCCTGGGAAAACAAAGAGAAGGCCATTAAAGAGGTTTTCCCACTGCCAAACTTTGACTTGTGCTGTTCCCCACA 69905714 69905884 69905845 69905846 69905846 downstr_intron 24 1.393443 TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCACGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA mutant NA NA NA NA NA 487 22 0.9959593 0.8113598 0.9036596 NA NA 1 1 NA NA -0.004040667 -0.1886402 NA 1 NA -0.09634042 NA FALSE NA 0 0.034 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 16/36 1 NA AAG A,C 1.655e-05 10:69905846 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00001399563 intron_variant 0.22029 0.23327 0.011 0.053691 0.7717077 0.0840973 0.003928968 FALSE 1.63981e-05 ENSE00001399563_015 ENSE00001399563 015 10 71665471 71665640 + 72 36 62 A G 71665610 1275 140 TCCAGTAGGCCACTGATTTGTCCAAAGTCCCGCCCCACTTGGGTCCTCCCCCTCCATCTTACCTTCCGGCCGTGGTAGCCCTGGATCCCTGGGTCTCCCTGGGAAAACAAAGAGAAGGCCATTAAAGAGGTTTTCCCACTGCCAAACTTTGACTTGTGCTGTTCCCCACA 69905714 69905884 69905853 69905854 69905854 downstr_intron 32 1.52459 TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCGGGACTTTGGACAAATCAGTGGCCTACTGGA TGTGGGGAACAGCACAAGTCAAAGTTTGGCAGTGGGAAAACCTCTTTAATGGCCTTCTCTTTGTTTTCCCAGGGAGACCCAGGGATCCAGGGCTACCACGGCCGGAAGGTAAGATGGAGGGGGAGGACCCAAGTGGGGCAGGACTTTGGACAAATCAGTGGCCTACTGGA mutant NA NA NA NA NA 150 109 0.99945 1 0.999725 NA NA 1 1 NA NA -0.0005500075 0 NA 1 NA -0.0002750038 NA FALSE NA 0.137 0.142 . intron_variant MODIFIER COL13A1 HGNC 2190 ENST00000517713 16/36 1 NA CAG A,G 8.274e-06 10:69905854 COL13A1 HGNC Symbol protein_coding 162408 ENSG00000197467 ENSE00001399563 intron_variant 0.726476 0.30315 0.02273 0.053691 0.8516038 0.0840473 0.003928968 FALSE 1.24105e-05 ENSE00001400229_000 ENSE00001400229 000 17 2884426 2884595 + 63 54 53 NA NA NA NA NA AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 NA NA NA NA NA NA AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG natural 95 138 0.9865551 0.9914311 0.9889931 3691 4368 0.8963621 0.9753933 0.9358777 0.9865551 0.9914311 0.8963621 0.9753933 0 0 0 0 0.9889931 0.9358777 0 0 0 FALSE FALSE NA NA NA NA NA RAP1GAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAP1GAP2 NA NA NA ENSG00000132359 ENSE00001400229 NA NA NA NA NA NA NA 0.9559386 TRUE NA ENSE00001400229_001 ENSE00001400229 001 17 2884426 2884595 + 63 54 53 G A 2884440 301 15 AGAGGAGCCCAGATATCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981145 2981146 2981146 upstr_intron -49 -0.7619048 AGAGGAGCCCAGATATCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant 122 102 0.9846445 0.9123498 0.9484972 207 733 1 1 1 0.9865551 0.9914311 0.8963621 0.9753933 -0.001910525 -0.07908134 0.1036379 0.02460675 0.9889931 0.9358777 -0.04049593 0.06412234 0.1046183 FALSE FALSE 0.002 0.148 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 9/24 1 NA TGT G,A 2.48e-05 17:2981146 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.412287 0.23963 0.08785 0.088506 0.4617435 0.0455939 0.9559386 TRUE 1.79215e-05 ENSE00001400229_002 ENSE00001400229 002 17 2884426 2884595 + 63 54 53 C T 2884445 302 20 AGAGGAGCCCAGATGTCCTTTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981150 2981151 2981151 upstr_intron -44 -0.6825397 AGAGGAGCCCAGATGTCCTTTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 153 817 1 1 1 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.1036379 0.02460675 0.9889931 0.9358777 NA 0.06412234 NA FALSE NA 0 0.918 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 9/24 rs370298359 1 NA T:0.0002 T:0 TCT C,T 8.266e-06 17:2981151 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.323504 0.21762 0.01065 0.088506 0.5803102 0.0455939 0.9559386 TRUE NA ENSE00001400229_003 ENSE00001400229 003 17 2884426 2884595 + 63 54 53 T C 2884454 303 29 AGAGGAGCCCAGATGTCCTCTACAGATACCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981159 2981160 2981160 upstr_intron -35 -0.5396825 AGAGGAGCCCAGATGTCCTCTACAGATACCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 121 909 1 0.9854516 0.9927258 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.1036379 0.01005832 0.9889931 0.9358777 NA 0.05684813 NA FALSE NA 0 -1.66 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 9/24 1 NA ATC T,C 8.266e-06 17:2981160 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.175468 0.17611 0.01673 0.088506 0.4077538 0.0455939 0.9559386 TRUE 8.48241e-06 ENSE00001400229_004 ENSE00001400229 004 17 2884426 2884595 + 63 54 53 C T 2884459 304 34 AGAGGAGCCCAGATGTCCTCTACAGATATCATCTCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981164 2981165 2981165 upstr_intron -30 -0.4603175 AGAGGAGCCCAGATGTCCTCTACAGATATCATCTCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant 14 52 1 0.9840265 0.9920133 23 64 1 0.9728585 0.9864293 0.9865551 0.9914311 0.8963621 0.9753933 0.01344493 -0.007404594 0.1036379 -0.002534723 0.9889931 0.9358777 0.003020169 0.05055161 0.04753144 FALSE FALSE 0.707 0.041 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 9/24 1 NA CCC C,T 8.267e-06 17:2981165 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.172013 0.16673 0.04599 0.088506 0.497105 0.0455939 0.9559386 TRUE 4.19326e-06 ENSE00001400229_005 ENSE00001400229 005 17 2884426 2884595 + 63 54 53 C T 2884464 305 39 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGATCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981169 2981170 2981170 upstr_intron -25 -0.3809524 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGATCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant 20 17 0.9995746 1 0.9997873 502 2084 0.9997538 0.9995395 0.9996466 0.9865551 0.9914311 0.8963621 0.9753933 0.01301954 0.008568899 0.1033917 0.02414622 0.9889931 0.9358777 0.01079422 0.06376898 0.05297476 FALSE FALSE 0 -0.461 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 9/24 rs375341868 1 NA T:0.0005 T:0 ACC C,T 3.307e-05 17:2981170 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant -0.037034 0.17125 0.04743 0.088506 0.6450198 0.0851235 0.9559386 TRUE 2.07793e-05 ENSE00001400229_006 ENSE00001400229 006 17 2884426 2884595 + 63 54 53 C T 2884468 306 43 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGTGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981173 2981174 2981174 upstr_intron -21 -0.3174603 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGTGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 871 582 0.9976554 0.9954259 0.9965406 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.1012934 0.02003261 0.9889931 0.9358777 NA 0.06066298 NA FALSE NA 0.004 1.105 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 9/24 1 NA GCG C,T 8.268e-06 17:2981174 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.080697 0.12236 0.0035 0.088506 0.6819644 0.0851235 0.9559386 TRUE NA ENSE00001400229_007 ENSE00001400229 007 17 2884426 2884595 + 63 54 53 T G 2884472 307 47 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCGTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981177 2981178 2981178 upstr_intron -17 -0.2539683 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCGTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant 99 171 0.8444434 0.85 0.8472217 584 2490 0.971969 0.955422 0.9636955 0.9865551 0.9914311 0.8963621 0.9753933 -0.1421116 -0.1414311 0.07560697 -0.01997128 0.9889931 0.9358777 -0.1417714 0.02781785 0.1695892 FALSE FALSE 0.004 1.499 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 9/24 1 NA CTT T,G 7.541e-05 17:2981178 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.190345 0.23383 0.16956 0.088506 0.7148253 0.0851235 0.9559386 TRUE 7.82989e-05 ENSE00001400229_008 ENSE00001400229 008 17 2884426 2884595 + 63 54 53 C T 2884479 308 54 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTTCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981184 2981185 2981185 upstr_intron -10 -0.1428571 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTTCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 421 105 0.9971302 0.9984908 0.9978105 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.1007682 0.02309754 0.9889931 0.9358777 NA 0.06193286 NA FALSE NA 0 -0.163 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 9/24 1 NA TCC C,T 8.269e-06 17:2981185 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 1.676018 0.17399 0.00822 0.088506 0.7544193 0.194343 0.9559386 TRUE NA ENSE00001400229_009 ENSE00001400229 009 17 2884426 2884595 + 63 54 53 A G 2884523 309 98 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAGTCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981228 2981229 2981229 exon -20 0.6481481 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAGTCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 193 1341 0.9989289 0.9907518 0.9948404 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.1025669 0.01535854 0.9889931 0.9358777 NA 0.05896271 NA FALSE NA 1 2.799 . missense_variant MODERATE RAP1GAP2 HGNC 29176 ENST00000540393 10/25 rs367931879 1 tolerated(0.44) benign(0.001) NA G:0.0003 G:0 AAT A,G 7.443e-05 17:2981229 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 missense_variant 1.675822 0.96776 0.86221 0.732398 0.9742621 0 0.9559386 TRUE 3.6944e-05 ENSE00001400229_010 ENSE00001400229 010 17 2884426 2884595 + 63 54 53 C T 2884530 310 105 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTTCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981235 2981236 2981236 exon -13 0.7777778 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTTCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant 11 12 1 0.9975141 0.9987571 578 97 0.9997348 1 0.9998674 0.9865551 0.9914311 0.8963621 0.9753933 0.01344493 0.006083024 0.1033727 0.02460675 0.9889931 0.9358777 0.009763977 0.06398973 0.05422575 FALSE FALSE 0.993 0.021 . synonymous_variant LOW RAP1GAP2 HGNC 29176 ENST00000540393 10/25 rs370522432&COSM3889488&COSM3889487 1 T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 T:0.0003 T:0.0004 TCC C,T 0.0002812 17:2981236 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 synonymous_variant 2.150297 0.9602 0.71648 0.732398 0.8330012 0 0.9559386 TRUE 0.000259616 ENSE00001400229_011 ENSE00001400229 011 17 2884426 2884595 + 63 54 53 C A 2884531 311 106 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCATGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981236 2981237 2981237 exon -12 0.7962963 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCATGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant 14 36 0.9978215 0.9995418 0.9986817 113 941 0.9986411 0.8970357 0.9478384 0.9865551 0.9914311 0.8963621 0.9753933 0.01126647 0.008110709 0.102279 -0.07835753 0.9889931 0.9358777 0.009688589 0.01196075 0.002272165 FALSE FALSE 1 2.651 . missense_variant MODERATE RAP1GAP2 HGNC 29176 ENST00000540393 10/25 1 deleterious(0.04) possibly_damaging(0.78) NA CCT C,A 1.654e-05 17:2981237 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 missense_variant 4.864672 0.98029 0.95325 0.732398 0.9951184 0 0.9559386 TRUE NA ENSE00001400229_012 ENSE00001400229 012 17 2884426 2884595 + 63 54 53 G A 2884533 312 108 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTATACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981238 2981239 2981239 exon -10 0.8333333 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTATACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 1962 883 0.9904503 0.9989035 0.9946769 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.09408827 0.02351029 0.9889931 0.9358777 NA 0.05879928 NA FALSE NA 1 0.917 . synonymous_variant LOW RAP1GAP2 HGNC 29176 ENST00000540393 10/25 1 NA TGT G,A 1.655e-05 17:2981239 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 synonymous_variant 1.325 0.96999 0.86833 0.732398 0.7766706 0 0.9559386 TRUE NA ENSE00001400229_013 ENSE00001400229 013 17 2884426 2884595 + 63 54 53 A G 2884541 313 116 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAGGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981246 2981247 2981247 exon -2 0.9814815 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAGGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant 135 100 0.8459291 0.85 0.8479646 4710 150 0.7879411 0.8116591 0.7998001 0.9865551 0.9914311 0.8963621 0.9753933 -0.140626 -0.1414311 -0.108421 -0.1637342 0.9889931 0.9358777 -0.1410285 -0.1360776 0.00495095 FALSE FALSE 1 4.254 . missense_variant&splice_region_variant MODERATE RAP1GAP2 HGNC 29176 ENST00000540393 10/25 rs201656017 1 tolerated(0.11) benign(0.055) NA G:0 G:0.0001 AAG A,G 8.273e-05 17:2981247 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 missense_variant 2.604732 0.96975 0.88028 0.732398 0.9965658 0 0.9559386 TRUE 7.91034e-05 ENSE00001400229_014 ENSE00001400229 014 17 2884426 2884595 + 63 54 53 A G 2884545 314 120 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTGAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981250 2981251 2981251 downstr_intron 3 1.057692 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTGAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant 36 138 0.85 0.85 0.85 3431 348 0.960778 0.9313437 0.9460609 0.9865551 0.9914311 0.8963621 0.9753933 -0.1365551 -0.1414311 0.06441594 -0.04404952 0.9889931 0.9358777 -0.1389931 0.01018321 0.1491763 FALSE FALSE 1 2.527 rs7208690 splice_region_variant&intron_variant LOW RAP1GAP2 HGNC 29176 ENST00000540393 10/24 rs7208690 1 G:0.2218 G:0.3631 G:0.1527 NA G:0.2133 G:0.2008 G:0.1104 G:0.3372 G:0.1821 TAA A,G 0.183 17:2981251 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 splice_region_variant 1.786934 0.92722 0.04274 0.106106 0.9121226 0.593149 0.9559386 TRUE 0.184834 ENSE00001400229_015 ENSE00001400229 015 17 2884426 2884595 + 63 54 53 A T 2884555 315 130 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCTTGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981260 2981261 2981261 downstr_intron 13 1.25 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCTTGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 42 115 0.9963311 1 0.9981655 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.099969 0.02460675 0.9889931 0.9358777 NA 0.06228787 NA FALSE NA 0 -4.529 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 10/24 1 NA CAT A,T 8.275e-06 17:2981261 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 1.506977 0.09464 0.00744 0.088506 0.8566895 0.132075 0.9559386 TRUE 3.42249e-05 ENSE00001400229_016 ENSE00001400229 016 17 2884426 2884595 + 63 54 53 C T 2884561 316 136 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCTCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981266 2981267 2981267 downstr_intron 19 1.365385 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCTCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 169 495 1 1 1 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.1036379 0.02460675 0.9889931 0.9358777 NA 0.06412234 NA FALSE NA 0 -1.063 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 10/24 1 NA CCC C,T 1.655e-05 17:2981267 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.059614 0.1531 0.00626 0.088506 0.5012744 0.046875 0.9559386 TRUE 1.30514e-05 ENSE00001400229_017 ENSE00001400229 017 17 2884426 2884595 + 63 54 53 G A 2884570 317 145 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGAGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981275 2981276 2981276 downstr_intron 28 1.538462 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGAGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 145 1055 1 0.9984704 0.9992352 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.1036379 0.02307715 0.9889931 0.9358777 NA 0.06335754 NA FALSE NA 0.004 1.141 rs143179262 intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 10/24 rs143179262 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGG G,A 8.279e-06 17:2981276 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.155459 0.19147 0.07855 0.088506 0.4729882 0.046875 0.9559386 TRUE NA ENSE00001400229_018 ENSE00001400229 018 17 2884426 2884595 + 63 54 53 C T 2884575 318 150 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCTTGCAGCTTGGCAAGGATTTG 2981131 2981301 2981280 2981281 2981281 downstr_intron 33 1.634615 AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCTTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG mutant NA NA NA NA NA 177 330 1 0.8297684 0.9148842 0.9865551 0.9914311 0.8963621 0.9753933 NA NA 0.1036379 -0.1456248 0.9889931 0.9358777 NA -0.02099345 NA FALSE NA 0 -0.541 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 10/24 1 NA CCT C,T 8.281e-06 17:2981281 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001400229 intron_variant 0.153942 0.17556 0.06935 0.088506 0.4190611 0.046875 0.9559386 TRUE NA ENSE00001400229_BRK ENSE00001400229 BRK 17 2884426 2884595 + 63 54 53 A,G; T,T NA NA NA AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCTTGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGCCAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG 2981131 2981301 NA NA NA NA NA NA AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCTTGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGCCAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG AGAGGAGCCCAGATGTCCTCTACAGATATCATCCCTGACCTGCGTCTTCTTCTCCCTTCTCAGGCTTTCTGTGATGATGCAGTGGGACTGAGATTCAATCCTGTCCTGTACCCCAAGGTAAGGACCTTCATGCTCCCAACATAGGGGCCCTGCAGCTTGGCAAGGATTTG control 24 25 0 0 0 111 498 0.01968191 0 0.009840953 0.9865551 0.9914311 0.8963621 0.9753933 -0.9865551 -0.9914311 -0.8766802 -0.9753933 0.9889931 0.9358777 -0.9889931 -0.9260367 0.06295638 TRUE TRUE NA NA NA NA NA RAP1GAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAP1GAP2 NA NA NA ENSG00000132359 ENSE00001400229 NA NA NA NA NA NA NA 0.9559386 TRUE NA ENSE00001400608_000 ENSE00001400608 000 16 70578299 70578468 + 42 96 32 NA NA NA NA NA AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 NA NA NA NA NA NA AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG natural 150 46 0.9121152 0.9852797 0.9486974 3760 3231 0.907049 0.9777887 0.9424189 0.9121152 0.9852797 0.907049 0.9777887 0 0 0 0 0.9486974 0.9424189 0 0 0 FALSE FALSE NA NA NA NA NA SF3B3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SF3B3 NA NA NA ENSG00000189091 ENSE00003673507 NA NA NA NA NA NA NA 0.999963 TRUE NA ENSE00001400608_001 ENSE00001400608 001 16 70578299 70578468 + 42 96 32 A T 70578309 2501 11 AGCACTGGAGTCATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544405 70544406 70544406 upstr_intron -32 -0.7380952 AGCACTGGAGTCATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 569 321 0.9907137 0.9993879 0.9950508 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.0836647 0.02159916 0.9486974 0.9424189 NA 0.05263193 NA FALSE NA 0 1.102 . intron_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 3/4 rs546326452 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GAC A,T 8.236e-06 16:70544406 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 intron_variant 0.191127 0.2954 0.22733 0.256867 0.7258646 0.134402 0.999963 TRUE 4.22326e-06 ENSE00001400608_002 ENSE00001400608 002 16 70578299 70578468 + 42 96 32 C T 70578310 2502 12 AGCACTGGAGATATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544406 70544407 70544407 upstr_intron -31 -0.7142857 AGCACTGGAGATATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 732 1459 1 0.922868 0.961434 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.09295099 -0.05492078 0.9486974 0.9424189 NA 0.01901511 NA FALSE NA 0 1.193 . intron_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 3/4 1 NA ACA C,T 8.236e-06 16:70544407 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 intron_variant 0.334413 0.37855 0.0565 0.256867 0.4284403 0.134402 0.999963 TRUE 1.26492e-05 ENSE00001400608_003 ENSE00001400608 003 16 70578299 70578468 + 42 96 32 T C 70578317 2503 19 AGCACTGGAGACATTTTTCCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544413 70544414 70544414 upstr_intron -24 -0.547619 AGCACTGGAGACATTTTTCCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 385 868 1 0.9968706 0.9984353 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.09295099 0.01908189 0.9486974 0.9424189 NA 0.05601644 NA FALSE NA 0 0.853 . intron_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 3/4 1 NA TTC T,C 6.589e-05 16:70544414 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 intron_variant 0.305307 0.41938 0.22953 0.256867 0.772037 0.134402 0.999963 TRUE 8.42971e-05 ENSE00001400608_004 ENSE00001400608 004 16 70578299 70578468 + 42 96 32 C A 70578325 2504 27 AGCACTGGAGACATTTTTTCCTCTAAATTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544421 70544422 70544422 upstr_intron -16 -0.3571429 AGCACTGGAGACATTTTTTCCTCTAAATTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 133 490 0.9802294 0.9994545 0.9898419 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.0731804 0.02166572 0.9486974 0.9424189 NA 0.04742306 NA FALSE NA 0 -0.392 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:70544422 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 intron_variant -0.214287 0.19954 0.01127 0.256867 0.3101134 0.134402 0.999963 TRUE NA ENSE00001400608_005 ENSE00001400608 005 16 70578299 70578468 + 42 96 32 C G 70578325 2505 27 AGCACTGGAGACATTTTTTCCTCTAAGTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544421 70544422 70544422 upstr_intron -16 -0.3571429 AGCACTGGAGACATTTTTTCCTCTAAGTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant 50 27 0.6315995 0.8093076 0.7204535 1008 465 0.9891461 0.9811584 0.9851523 0.9121152 0.9852797 0.907049 0.9777887 -0.2805157 -0.1759721 0.08209711 0.003369644 0.9486974 0.9424189 -0.2282439 0.04273338 0.2709773 FALSE FALSE 0 -0.392 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SF3B3 NA NA NA ENSG00000189091 ENSE00003673507 intron_variant -0.435957 0.22807 0.0648 0.256867 0.3379817 0.134402 0.999963 TRUE NA ENSE00001400608_007 ENSE00001400608 007 16 70578299 70578468 + 42 96 32 T C 70578327 2507 29 AGCACTGGAGACATTTTTTCCTCTAACTCTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544423 70544424 70544424 upstr_intron -14 -0.3095238 AGCACTGGAGACATTTTTTCCTCTAACTCTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 1736 476 0.9973411 0.9251302 0.9612357 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.09029213 -0.0526585 0.9486974 0.9424189 NA 0.01881682 NA FALSE NA 0.001 0.442 NA NA NA SF3B3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:70544424 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 intron_variant -0.130717 0.29433 0.02252 0.256867 0.5838275 0.110403 0.999963 TRUE 4.16479e-06 ENSE00001400608_008 ENSE00001400608 008 16 70578299 70578468 + 42 96 32 T C 70578334 2508 36 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCCGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544430 70544431 70544431 upstr_intron -7 -0.1428571 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCCGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 556 1488 0.7981499 0.8431741 0.820662 0.9121152 0.9852797 0.907049 0.9777887 NA NA -0.1088992 -0.1346146 0.9486974 0.9424189 NA -0.1217569 NA FALSE NA 0 0.273 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SF3B3 HGNC 10770 ENST00000572365 3/4 1 NA CTG T,C 1.647e-05 16:70544431 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 splice_region_variant -0.406654 0.30997 0.21914 0.256867 0.3754653 0.157249 0.999963 TRUE 1.23917e-05 ENSE00001400608_009 ENSE00001400608 009 16 70578299 70578468 + 42 96 32 C G 70578350 2509 52 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATGTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544446 70544447 70544447 exon 10 0.1041667 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATGTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 629 1478 0.9726772 1 0.9863386 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.0656282 0.02221125 0.9486974 0.9424189 NA 0.04391973 NA FALSE NA 1 1.122 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 1 NA TCT C,G 8.236e-06 16:70544447 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 missense_variant 3.417219 0.98289 0.98386 0.67177 0.7549378 0 0.999963 TRUE 8.14266e-06 ENSE00001400608_010 ENSE00001400608 010 16 70578299 70578468 + 42 96 32 A G 70578357 2510 59 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAGTGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544453 70544454 70544454 exon 17 0.1770833 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAGTGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 543 210 0.9950462 0.9992461 0.9971462 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.08799721 0.0214574 0.9486974 0.9424189 NA 0.0547273 NA FALSE NA 1 9.343 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 1 NA AAT A,G 8.236e-06 16:70544454 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 missense_variant 0.813167 0.99647 0.9991 0.67177 0.7952012 0 0.999963 TRUE 1.21991e-05 ENSE00001400608_011 ENSE00001400608 011 16 70578299 70578468 + 42 96 32 A G 70578370 2511 72 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCGCAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544466 70544467 70544467 exon 30 0.3125 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCGCAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 255 1421 1 1 1 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.09295099 0.02221125 0.9486974 0.9424189 NA 0.05758112 NA FALSE NA 1 0.819 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 1 NA CAC A,G 8.236e-06 16:70544467 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 synonymous_variant -0.596915 0.9623 0.95217 0.67177 0.5531135 0 0.999963 TRUE 8.12863e-06 ENSE00001400608_013 ENSE00001400608 013 16 70578299 70578468 + 42 96 32 A G 70578392 2513 94 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTGGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544488 70544489 70544489 exon -45 0.5416667 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTGGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 997 1873 0.9760071 0.9962103 0.9861087 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.0689581 0.01842158 0.9486974 0.9424189 NA 0.04368984 NA FALSE NA 0.941 1.746 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 1 NA TAG A,G 8.236e-06 16:70544489 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 missense_variant 2.799281 0.9571 0.94795 0.67177 0.7635205 0 0.999963 TRUE 3.24934e-05 ENSE00001400608_014 ENSE00001400608 014 16 70578299 70578468 + 42 96 32 A T 70578397 2514 99 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGTCCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544493 70544494 70544494 exon -40 0.59375 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGTCCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant 12 10 0.85 0.85 0.85 214 218 1 0.9844825 0.9922412 0.9121152 0.9852797 0.907049 0.9777887 -0.06211517 -0.1352797 0.09295099 0.006693704 0.9486974 0.9424189 -0.09869744 0.04982235 0.1485198 FALSE FALSE 0.238 -0.209 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 rs201059810 1 T:0.0000 T:0 T:0 NA T:0 T:0 T:0 GAC A,T 8.236e-06 16:70544494 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 synonymous_variant -0.53019 0.97851 0.58714 0.67177 0.479589 0 0.999963 TRUE NA ENSE00001400608_015 ENSE00001400608 015 16 70578299 70578468 + 42 96 32 C A 70578399 2515 101 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACACCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544495 70544496 70544496 exon -38 0.6145833 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACACCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 2730 2951 0.9995771 0.9641291 0.9818531 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.09252814 -0.01365964 0.9486974 0.9424189 NA 0.03943425 NA FALSE NA 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 rs531743300 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CCC C,A 8.236e-06 16:70544496 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 missense_variant 4.733331 0.99766 0.99777 0.67177 0.8982022 0 0.999963 TRUE 4.06154e-06 ENSE00001400608_016 ENSE00001400608 016 16 70578299 70578468 + 42 96 32 C G 70578401 2516 103 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCGGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544497 70544498 70544498 exon -36 0.6354167 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCGGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant 33 16 1 1 1 735 761 0.9879855 0.9897277 0.9888566 0.9121152 0.9852797 0.907049 0.9777887 0.08788483 0.0147203 0.08093646 0.01193893 0.9486974 0.9424189 0.05130256 0.04643769 0.004864869 FALSE FALSE 0.609 1.216 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 1 NA CCG C,G 8.236e-06 16:70544498 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 missense_variant 1.739101 0.43721 0.81888 0.67177 0.5072534 0 0.999963 TRUE 4.06157e-06 ENSE00001400608_017 ENSE00001400608 017 16 70578299 70578468 + 42 96 32 A G 70578406 2517 108 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCGTCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544502 70544503 70544503 exon -31 0.6875 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCGTCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 526 707 1 0.9984235 0.9992118 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.09295099 0.02063478 0.9486974 0.9424189 NA 0.05679289 NA FALSE NA 0.297 -0.2 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 1 NA CAT A,G 8.236e-06 16:70544503 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 synonymous_variant 0.682393 0.9765 0.67706 0.67177 0.5725145 0 0.999963 TRUE 1.21846e-05 ENSE00001400608_018 ENSE00001400608 018 16 70578299 70578468 + 42 96 32 T C 70578427 2518 129 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACACGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 70544523 70544524 70544524 exon -10 0.90625 AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACACGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG mutant NA NA NA NA NA 1005 401 0.9942512 0.9942846 0.9942679 0.9121152 0.9852797 0.907049 0.9777887 NA NA 0.08720219 0.01649589 0.9486974 0.9424189 NA 0.05184904 NA FALSE NA 1 0.693 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SF3B3 HGNC 10770 ENST00000572365 4/5 1 NA ATG T,C 8.236e-06 16:70544524 SF3B3 HGNC Symbol protein_coding 53882 ENSG00000189091 ENSE00003673507 synonymous_variant -0.22389 0.98129 0.92255 0.67177 0.3715385 0 0.999963 TRUE 8.12618e-06 ENSE00001400608_BRK ENSE00001400608 BRK 16 70578299 70578468 + 42 96 32 A,G; T,T NA NA NA AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCTTATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGCCAAGGTTGCAATTTCTAGATAATCTGCAGGG 70544395 70544565 NA NA NA NA NA NA AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCTTATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGCCAAGGTTGCAATTTCTAGATAATCTGCAGGG AGCACTGGAGACATTTTTTCCTCTAACTTTTTCTCTGTGCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTAAGGTTGCAATTTCTAGATAATCTGCAGGG control 45 40 0 0 0 924 255 0.0112911 0.001985685 0.006638395 0.9121152 0.9852797 0.907049 0.9777887 -0.9121152 -0.9852797 -0.8957579 -0.9758031 0.9486974 0.9424189 -0.9486974 -0.9357805 0.01291695 TRUE TRUE NA NA NA NA NA SF3B3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SF3B3 NA NA NA ENSG00000189091 ENSE00003673507 NA NA NA NA NA NA NA 0.999963 TRUE NA ENSE00001401102_000 ENSE00001401102 000 8 139614301 139614470 - 57 45 68 NA NA NA NA NA GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 NA NA NA NA NA NA ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC natural NA NA NA NA NA 977 308 0.9905235 0.9259644 0.9582439 NA NA 0.9905235 0.9259644 NA NA 0 0 NA 0.9582439 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003671430 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001401102_002 ENSE00001401102 002 8 139614301 139614470 - 57 45 68 C T 139614318 2178 153 GGCCACTGTGCAAAGGTTGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602074 138602075 138602075 downstr_intron 40 1.714286 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCAACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 154 73 0.9654314 1 0.9827157 NA NA 0.9905235 0.9259644 NA NA -0.02509209 0.07403561 NA 0.9582439 NA 0.02447176 NA FALSE NA 0.001 0.467 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138602075 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.462337 0.25654 0.0854 0.074636 0.8204319 0.0621895 8.258326e-32 FALSE 4.06375e-06 ENSE00001401102_003 ENSE00001401102 003 8 139614301 139614470 - 57 45 68 G A 139614319 2179 152 GGCCACTGTGCAAAGGTCACGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602075 138602076 138602076 downstr_intron 39 1.696429 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGTGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 344 116 1 0.9831193 0.9915596 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.0571549 NA 0.9582439 NA 0.0333157 NA FALSE NA 0 -0.481 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 60/64 rs200312257 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0014 A:0.0012 CGC G,A 0.0007989 8:138602076 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant -0.098771 0.07546 0.00054 0.074636 0.6347702 0.0621895 8.258326e-32 FALSE 0.000885732 ENSE00001401102_005 ENSE00001401102 005 8 139614301 139614470 - 57 45 68 G A 139614321 2181 150 GGCCACTGTGCAAAGGTCGCATTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602077 138602078 138602078 downstr_intron 37 1.660714 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAATGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 250 92 1 1 1 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.07403561 NA 0.9582439 NA 0.04175605 NA FALSE NA 0 -2.949 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 60/64 1 NA CGT G,A 2.471e-05 8:138602078 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant -0.206407 0.09615 0.00133 0.074636 0.7381269 0.0473685 8.258326e-32 FALSE 1.62512e-05 ENSE00001401102_006 ENSE00001401102 006 8 139614301 139614470 - 57 45 68 C T 139614324 2182 147 GGCCACTGTGCAAAGGTCGCGTTTGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602080 138602081 138602081 downstr_intron 34 1.607143 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCAAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 145 887 0.9739775 0.9987838 0.9863807 NA NA 0.9905235 0.9259644 NA NA -0.01654597 0.07281944 NA 0.9582439 NA 0.02813674 NA FALSE NA 0 -1.248 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 60/64 rs367806872 1 NA T:0 T:0.0002 TCG C,T 1.647e-05 8:138602081 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant -0.088373 0.11778 0.0036 0.074636 0.6493356 0.0473685 8.258326e-32 FALSE 2.84375e-05 ENSE00001401102_007 ENSE00001401102 007 8 139614301 139614470 - 57 45 68 G A 139614325 2183 146 GGCCACTGTGCAAAGGTCGCGTTCAGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602081 138602082 138602082 downstr_intron 33 1.589286 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCTGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 857 38 0.989582 1 0.994791 NA NA 0.9905235 0.9259644 NA NA -0.0009415466 0.07403561 NA 0.9582439 NA 0.03654703 NA FALSE NA 0 -4.332 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138602082 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant -0.163036 0.10477 0.00118 0.074636 0.640993 0.0473685 8.258326e-32 FALSE 2.43748e-05 ENSE00001401102_008 ENSE00001401102 008 8 139614301 139614470 - 57 45 68 G T 139614325 2184 146 GGCCACTGTGCAAAGGTCGCGTTCTGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602081 138602082 138602082 downstr_intron 33 1.589286 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCAGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 99 263 1 0.9796208 0.9898104 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.05365644 NA 0.9582439 NA 0.03156647 NA FALSE NA 0 -4.332 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003671430 intron_variant -0.358455 0.14239 0.01412 0.074636 0.5856641 0.0473685 8.258326e-32 FALSE 4.06246e-06 ENSE00001401102_009 ENSE00001401102 009 8 139614301 139614470 - 57 45 68 C T 139614327 2185 144 GGCCACTGTGCAAAGGTCGCGTTCGGTGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602083 138602084 138602084 downstr_intron 31 1.553571 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACACCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 46 187 0.9932691 0.9617001 0.9774846 NA NA 0.9905235 0.9259644 NA NA 0.002745571 0.03573566 NA 0.9582439 NA 0.01924061 NA FALSE NA 0 -2.239 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 60/64 rs559844082 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C,T 7.413e-05 8:138602084 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant -0.032425 0.14876 0.00797 0.074636 0.6202412 0.0473685 8.258326e-32 FALSE 4.87547e-05 ENSE00001401102_010 ENSE00001401102 010 8 139614301 139614470 - 57 45 68 G A 139614328 2186 143 GGCCACTGTGCAAAGGTCGCGTTCGGCATGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602084 138602085 138602085 downstr_intron 30 1.535714 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACATGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 1308 193 0.9971495 1 0.9985748 NA NA 0.9905235 0.9259644 NA NA 0.006626041 0.07403561 NA 0.9582439 NA 0.04033082 NA FALSE NA 0 -0.354 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 60/64 rs371313305 1 NA A:0 A:0.0003 CGT G,A 0.0001483 8:138602085 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant -0.242803 0.08367 0.00552 0.061011 0.6458075 0.0473685 8.258326e-32 FALSE 0.000113737 ENSE00001401102_011 ENSE00001401102 011 8 139614301 139614470 - 57 45 68 C G 139614340 2187 131 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGGCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602096 138602097 138602097 downstr_intron 18 1.321429 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGCCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 314 1256 0.995588 0.8437038 0.9196459 NA NA 0.9905235 0.9259644 NA NA 0.005064546 -0.0822606 NA 0.9582439 NA -0.03859803 NA FALSE NA 0 -2.373 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138602097 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.105873 0.19304 0.00584 0.061011 0.3936842 0.0458607 8.258326e-32 FALSE 4.06128e-06 ENSE00001401102_012 ENSE00001401102 012 8 139614301 139614470 - 57 45 68 C T 139614340 2188 131 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGTCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602096 138602097 138602097 downstr_intron 18 1.321429 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGACACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 2477 116 0.9967188 1 0.9983594 NA NA 0.9905235 0.9259644 NA NA 0.006195285 0.07403561 NA 0.9582439 NA 0.04011545 NA FALSE NA 0 -2.373 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003671430 intron_variant 0.271802 0.19727 0.01646 0.061011 0.4779202 0.0458607 8.258326e-32 FALSE 1.21838e-05 ENSE00001401102_013 ENSE00001401102 013 8 139614301 139614470 - 57 45 68 C A 139614355 2189 116 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTAACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602111 138602112 138602112 downstr_intron 3 1.053571 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTTAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 49 799 1 0.9977295 0.9988647 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.07176508 NA 0.9582439 NA 0.04062079 NA FALSE NA 1 0.82 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 60/64 rs376178109 1 NA A:0.0002 A:0 TCA C,A 8.236e-06 8:138602112 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 splice_region_variant 1.272766 0.97284 0.90888 0.074636 0.7067216 0.438217 8.258326e-32 FALSE 4.06098e-06 ENSE00001401102_015 ENSE00001401102 015 8 139614301 139614470 - 57 45 68 C A 139614358 2191 113 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACACTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602114 138602115 138602115 exon -1 1 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGTGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 70 152 1 1 1 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.07403561 NA 0.9582439 NA 0.04175605 NA FALSE NA 0.998 3.617 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138602115 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 missense_variant 3.867388 0.99 0.98341 0.638212 0.9942285 0 8.258326e-32 FALSE 4.06105e-06 ENSE00001401102_016 ENSE00001401102 016 8 139614301 139614470 - 57 45 68 T C 139614367 2192 104 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCCTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602123 138602124 138602124 exon -10 0.8 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAGGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 277 613 1 0.9735651 0.9867825 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.04760069 NA 0.9582439 NA 0.02853859 NA FALSE NA 1 1.769 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 60/65 rs367932437 1 NA C:0.0005 C:0 CTT T,C 4.118e-05 8:138602124 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 synonymous_variant -0.107913 0.98235 0.942 0.638212 0.5876681 0 8.258326e-32 FALSE 2.84269e-05 ENSE00001401102_017 ENSE00001401102 017 8 139614301 139614470 - 57 45 68 T G 139614373 2193 98 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAAGCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602129 138602130 138602130 exon -16 0.6666667 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGCTTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 258 155 0.8729508 1 0.9364754 NA NA 0.9905235 0.9259644 NA NA -0.1175727 0.07403561 NA 0.9582439 NA -0.02176857 NA FALSE NA 0.357 0.301 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 60/65 1 NA ATC T,G 8.236e-06 8:138602130 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 synonymous_variant 0.746015 0.50607 0.19923 0.638212 0.6753247 0 8.258326e-32 FALSE 4.06121e-06 ENSE00001401102_018 ENSE00001401102 018 8 139614301 139614470 - 57 45 68 C T 139614379 2194 92 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGTTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602135 138602136 138602136 exon -22 0.5333333 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAACCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 72 386 1 0.9751552 0.9875776 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.04919081 NA 0.9582439 NA 0.02933365 NA FALSE NA 0.209 -0.731 rs184333457 synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 60/65 rs184333457&COSM3982412 1 T:0.0016 T:0 T:0 NA T:0.0079 T:0 T:0 GCT C,T 0.0004448 8:138602136 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 synonymous_variant 1.161586 0.17851 0.03387 0.638212 0.4627807 0 8.258326e-32 FALSE 0.000442665 ENSE00001401102_019 ENSE00001401102 019 8 139614301 139614470 - 57 45 68 C T 139614381 2195 90 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTTTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602137 138602138 138602138 exon 22 0.4888889 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAAAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 2626 236 0.9987078 0.9793466 0.9890272 NA NA 0.9905235 0.9259644 NA NA 0.008184297 0.05338224 NA 0.9582439 NA 0.03078327 NA FALSE NA 1 4.76 rs150463972 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 60/65 rs150463972 1 unknown(0) NA T:0.0002 T:0 TCT C,T 4.118e-05 8:138602138 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 missense_variant 3.616796 0.99026 0.9793 0.638212 0.9977802 0 8.258326e-32 FALSE 3.65509e-05 ENSE00001401102_020 ENSE00001401102 020 8 139614301 139614470 - 57 45 68 G C 139614396 2196 75 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGCGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602152 138602153 138602153 exon 7 0.1555556 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCGCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 188 250 1 0.9993669 0.9996834 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.07340247 NA 0.9582439 NA 0.04143948 NA FALSE NA 0.97 1.606 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 60/65 1 unknown(0) NA GGG G,C 8.237e-06 8:138602153 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 missense_variant 0.882374 0.92433 0.88412 0.638212 0.9797272 0 8.258326e-32 FALSE 4.0624e-06 ENSE00001401102_021 ENSE00001401102 021 8 139614301 139614470 - 57 45 68 T C 139614404 2197 67 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCCGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602160 138602161 138602161 upstr_intron -2 -0.01470588 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCGGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 89 183 0.05046068 0.06464986 0.05755527 NA NA 0.9905235 0.9259644 NA NA -0.9400628 -0.8613145 NA 0.9582439 NA -0.9006887 NA TRUE NA 1 6.618 . splice_acceptor_variant HIGH COL22A1 HGNC 22989 ENST00000303045 59/64 COSM749076 1 NA LC CTG T,C 8.237e-06 8:138602161 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 splice_acceptor_variant 4.226931 0.99261 0.9936 0.074636 0.9945188 0.974616 8.258326e-32 FALSE 4.06303e-06 ENSE00001401102_022 ENSE00001401102 022 8 139614301 139614470 - 57 45 68 G A 139614425 2198 46 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAATCATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602181 138602182 138602182 upstr_intron -23 -0.3235294 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGATTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 55 207 1 0.9619682 0.9809841 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.03600383 NA 0.9582439 NA 0.02274016 NA FALSE NA 0.001 0.636 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 rs545194267 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 AGT G,A 0.0003048 8:138602182 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.952196 0.98455 0.08767 0.061011 0.5922574 0.937797 8.258326e-32 FALSE 0.000317151 ENSE00001401102_023 ENSE00001401102 023 8 139614301 139614470 - 57 45 68 C T 139614427 2199 44 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTTATTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602183 138602184 138602184 upstr_intron -25 -0.3529412 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATAACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 1955 216 0.9978514 0.9744924 0.9861719 NA NA 0.9905235 0.9259644 NA NA 0.007327876 0.04852797 NA 0.9582439 NA 0.02792792 NA FALSE NA 0.001 0.346 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 1 NA TCA C,T 8.237e-06 8:138602184 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 1.191887 0.98923 0.16843 0.061011 0.651262 0.944276 8.258326e-32 FALSE 4.06693e-06 ENSE00001401102_024 ENSE00001401102 024 8 139614301 139614470 - 57 45 68 T C 139614429 2200 42 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCACTGCCCCGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602185 138602186 138602186 upstr_intron -27 -0.3823529 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAGTGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 79 11 1 1 1 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.07403561 NA 0.9582439 NA 0.04175605 NA FALSE NA 0 -1.128 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 1 NA ATT T,C 8.237e-06 8:138602186 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.288209 0.22064 0.00207 0.061011 0.7867468 0.0436289 8.258326e-32 FALSE 8.13392e-06 ENSE00001401102_025 ENSE00001401102 025 8 139614301 139614470 - 57 45 68 C T 139614435 2201 36 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCTGGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602191 138602192 138602192 upstr_intron -33 -0.4705882 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCAGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 1014 31 0.9950569 1 0.9975285 NA NA 0.9905235 0.9259644 NA NA 0.004533403 0.07403561 NA 0.9582439 NA 0.03928451 NA FALSE NA 0.002 1.293 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 rs564947607 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCG C,T 8.237e-06 8:138602192 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.314382 0.1861 0.09814 0.061011 0.7292487 0.0436289 8.258326e-32 FALSE 8.13776e-06 ENSE00001401102_026 ENSE00001401102 026 8 139614301 139614470 - 57 45 68 G A 139614436 2202 35 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCAGGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602192 138602193 138602193 upstr_intron -34 -0.4852941 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCTGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 716 139 1 1 1 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.07403561 NA 0.9582439 NA 0.04175605 NA FALSE NA 0 -1.398 rs4394401 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 rs4394401 1 G:0.1556 A:0.7837 A:0.8199 NA A:0.8135 A:0.9533 A:0.864 A:0.8037 A:0.9369 CGG G,A 0.886 8:138602193 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.128847 0.07405 0.00075 0.061011 0.6135096 0.0436289 8.258326e-32 FALSE 0.883456 ENSE00001401102_027 ENSE00001401102 027 8 139614301 139614470 - 57 45 68 G A 139614437 2203 34 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGAGCCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602193 138602194 138602194 upstr_intron -35 -0.5 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCTCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 262 368 0.9982593 1 0.9991296 NA NA 0.9905235 0.9259644 NA NA 0.007735757 0.07403561 NA 0.9582439 NA 0.04088568 NA FALSE NA 0 0.191 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 1 NA GGG G,A 0.0001236 8:138602194 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.37338 0.21946 0.05995 0.061011 0.7754536 0.0436289 8.258326e-32 FALSE 0.000118059 ENSE00001401102_028 ENSE00001401102 028 8 139614301 139614470 - 57 45 68 G A 139614438 2204 33 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGACCCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602194 138602195 138602195 upstr_intron -36 -0.5147059 ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGTCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 355 634 0.9970653 0.9997505 0.9984079 NA NA 0.9905235 0.9259644 NA NA 0.006541813 0.07378607 NA 0.9582439 NA 0.04016394 NA FALSE NA 0 -0.248 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 1 NA GGC G,A 8.237e-06 8:138602195 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.065766 0.16042 0.03202 0.061011 0.6694269 0.0436289 8.258326e-32 FALSE 4.07166e-06 ENSE00001401102_029 ENSE00001401102 029 8 139614301 139614470 - 57 45 68 C T 139614440 2205 31 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCTCTCTGCACTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602196 138602197 138602197 upstr_intron -38 -0.5441176 ATCCAGCAAGGCAAGGACACCAGTGCAGAGAGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 49 483 1 1 1 NA NA 0.9905235 0.9259644 NA NA 0.009476496 0.07403561 NA 0.9582439 NA 0.04175605 NA FALSE NA 0.001 0.582 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 1 NA CCC C,T 8.237e-06 8:138602197 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.448188 0.21098 0.08128 0.061011 0.7732376 0.0436289 8.258326e-32 FALSE 4.07365e-06 ENSE00001401102_030 ENSE00001401102 030 8 139614301 139614470 - 57 45 68 C T 139614448 2206 23 GGCCACTGTGCAAAGGTCGCGTTCGGCGTGTTCAAGGTGCCTGTGCTCTCCACTCACCCTTTCTCCTTTGAATCCAGGCTCTCCAGGCTTCCCAGGGACCCCCTGCAAGGAGAAAGAAAGGACAGTCATTGCCCCGGGCCCTCTGCATTGGTGTCCTTGCCTTGCTGGAT 138602057 138602227 138602204 138602205 138602205 upstr_intron -46 -0.6617647 ATCCAGCAAGGCAAGGACACCAATGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC ATCCAGCAAGGCAAGGACACCAGTGCAGAGGGCCCGGGGCAATGACTGTCCTTTCTTTCTCCTTGCAGGGGGTCCCTGGGAAGCCTGGAGAGCCTGGATTCAAAGGAGAAAGGGTGAGTGGAGAGCACAGGCACCTTGAACACGCCGAACGCGACCTTTGCACAGTGGCC mutant NA NA NA NA NA 122 244 1 0.8121251 0.9060626 NA NA 0.9905235 0.9259644 NA NA 0.009476496 -0.1138392 NA 0.9582439 NA -0.05218137 NA FALSE NA 0 -1.138 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 1 NA ACT C,T 8.237e-06 8:138602205 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003671430 intron_variant 0.302957 0.15411 0.01517 0.061011 0.7320271 0.0414318 8.258326e-32 FALSE 4.08133e-06 ENSE00001404070_000 ENSE00001404070 000 5 177688657 177688826 - 66 27 77 NA NA NA NA NA AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 NA NA NA NA NA NA AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT natural NA NA NA NA NA 1090 1121 0.891428 0.8564935 0.8739608 NA NA 0.891428 0.8564935 NA NA 0 0 NA 0.8739608 NA 0 NA FALSE NA NA NA NA NA NA COL23A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL23A1 NA NA NA ENSG00000050767 ENSE00001404070 NA NA NA NA NA NA NA 9.574492e-10 FALSE NA ENSE00001404070_002 ENSE00001404070 002 5 177688657 177688826 - 66 27 77 G A 177688692 2503 135 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGAGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261690 178261691 178261691 downstr_intron 31 1.476923 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCTCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 1168 665 0.9963454 0.9913662 0.9938558 NA NA 0.891428 0.8564935 NA NA 0.1049174 0.1348726 NA 0.8739608 NA 0.119895 NA FALSE NA 0.006 0.16 . intron_variant MODIFIER COL23A1 HGNC 22990 ENST00000407622 10/15 1 NA GGG G,A 8.274e-06 5:178261691 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 intron_variant 0.168636 0.15379 0.05763 0.055982 0.3723702 0.0848229 9.574492e-10 FALSE 4.07209e-06 ENSE00001404070_003 ENSE00001404070 003 5 177688657 177688826 - 66 27 77 G A 177688698 2504 129 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGAGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261696 178261697 178261697 downstr_intron 25 1.384615 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCTCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 19 2050 1 0.9887873 0.9943937 NA NA 0.891428 0.8564935 NA NA 0.108572 0.1322938 NA 0.8739608 NA 0.1204329 NA FALSE NA 0 -1.092 . intron_variant MODIFIER COL23A1 HGNC 22990 ENST00000407622 10/15 1 NA GGG G,A 8.274e-06 5:178261697 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 intron_variant 0.225174 0.16849 0.00894 0.056701 0.41618 0.0856336 9.574492e-10 FALSE 4.06792e-06 ENSE00001404070_006 ENSE00001404070 006 5 177688657 177688826 - 66 27 77 G T 177688715 2507 112 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGATTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261713 178261714 178261714 downstr_intron 8 1.123077 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTAATCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 79 238 0.975213 0.9936828 0.9844479 NA NA 0.891428 0.8564935 NA NA 0.08378499 0.1371893 NA 0.8739608 NA 0.1104871 NA FALSE NA 0 -0.203 . splice_region_variant&intron_variant LOW COL23A1 HGNC 22990 ENST00000407622 10/15 rs370091812 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 AGT G,T 2.482e-05 5:178261714 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 splice_region_variant -0.311627 0.1728 0.04368 0.056701 0.3155672 0.146503 9.574492e-10 FALSE 2.43853e-05 ENSE00001404070_007 ENSE00001404070 007 5 177688657 177688826 - 66 27 77 C T 177688722 2508 105 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCATCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261720 178261721 178261721 downstr_intron 1 1.015385 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGATGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 891 264 0.0005492463 0 0.0002746231 NA NA 0.891428 0.8564935 NA NA -0.8908787 -0.8564935 NA 0.8739608 NA -0.8736861 NA TRUE NA 1 3.884 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:178261721 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 splice_donor_variant 4.107294 0.98283 0.95896 0.055982 0.9898847 0.96948 9.574492e-10 FALSE 4.06382e-06 ENSE00001404070_008 ENSE00001404070 008 5 177688657 177688826 - 66 27 77 C A 177688722 2509 105 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCAACTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261720 178261721 178261721 downstr_intron 1 1.015385 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGTTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 64 55 0 0.009271883 0.004635942 NA NA 0.891428 0.8564935 NA NA -0.891428 -0.8472217 NA 0.8739608 NA -0.8693248 NA TRUE NA 1 3.884 NA NA NA COL23A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL23A1 NA NA NA ENSG00000050767 ENSE00001404070 splice_donor_variant 4.147993 0.98357 0.96273 0.055982 0.9897516 0.96948 9.574492e-10 FALSE 4.06382e-06 ENSE00001404070_009 ENSE00001404070 009 5 177688657 177688826 - 66 27 77 G C 177688727 2510 100 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGCGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261725 178261726 178261726 exon -5 0.8518519 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCGCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 184 263 0.9889916 0.9993982 0.9941949 NA NA 0.891428 0.8564935 NA NA 0.0975636 0.1429046 NA 0.8739608 NA 0.1202341 NA FALSE NA 1 2.354 . missense_variant MODERATE COL23A1 HGNC 22990 ENST00000407622 10/16 rs201960093 1 probably_damaging(0.998) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GGG G,C 8.275e-06 5:178261726 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 missense_variant 2.676952 0.97306 0.90731 0.646311 0.9974498 0 9.574492e-10 FALSE 1.21928e-05 ENSE00001404070_010 ENSE00001404070 010 5 177688657 177688826 - 66 27 77 C T 177688729 2511 98 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGTCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261727 178261728 178261728 exon -7 0.7777778 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGACCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 84 253 1 0.9973852 0.9986926 NA NA 0.891428 0.8564935 NA NA 0.108572 0.1408916 NA 0.8739608 NA 0.1247318 NA FALSE NA 0.019 -1.818 . synonymous_variant LOW COL23A1 HGNC 22990 ENST00000407622 10/16 1 NA GCC C,T 8.276e-06 5:178261728 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 synonymous_variant 0.569276 0.30636 0.02167 0.646311 0.4796942 0 9.574492e-10 FALSE 4.06415e-06 ENSE00001404070_011 ENSE00001404070 011 5 177688657 177688826 - 66 27 77 G A 177688734 2512 93 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGAGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261732 178261733 178261733 exon -12 0.5925926 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCTCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 748 59 0.994612 0.9773471 0.9859796 NA NA 0.891428 0.8564935 NA NA 0.103184 0.1208536 NA 0.8739608 NA 0.1120188 NA FALSE NA 1 3.396 . missense_variant MODERATE COL23A1 HGNC 22990 ENST00000407622 10/16 1 probably_damaging(0.996) NA GGG G,A 8.275e-06 5:178261733 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 missense_variant 0.940012 0.97288 0.91065 0.646311 0.997961 0 9.574492e-10 FALSE 1.21928e-05 ENSE00001404070_012 ENSE00001404070 012 5 177688657 177688826 - 66 27 77 G T 177688736 2513 91 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGTGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261734 178261735 178261735 exon -14 0.5185185 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACACCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 99 381 1 0.9880225 0.9940112 NA NA 0.891428 0.8564935 NA NA 0.108572 0.1315289 NA 0.8739608 NA 0.1200505 NA FALSE NA 1 2.501 rs145444157 missense_variant MODERATE COL23A1 HGNC 22990 ENST00000407622 10/16 rs145444157 1 probably_damaging(0.971) T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 GGG G,T 4.965e-05 5:178261735 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 missense_variant 3.089935 0.98404 0.945 0.646311 0.9947861 0 9.574492e-10 FALSE 4.47104e-05 ENSE00001404070_013 ENSE00001404070 013 5 177688657 177688826 - 66 27 77 A T 177688758 2514 69 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACATGAGAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261756 178261757 178261757 upstr_intron -9 -0.1038961 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCATGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 377 298 0.9672324 0.968628 0.9679302 NA NA 0.891428 0.8564935 NA NA 0.07580444 0.1121345 NA 0.8739608 NA 0.09396947 NA FALSE NA 0.019 0.621 . intron_variant MODIFIER COL23A1 HGNC 22990 ENST00000407622 9/15 1 NA AAG A,T 8.272e-06 5:178261757 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 intron_variant 0.925904 0.50905 0.18528 0.056701 0.7529359 0.375439 9.574492e-10 FALSE 4.0654e-06 ENSE00001404070_014 ENSE00001404070 014 5 177688657 177688826 - 66 27 77 G T 177688761 2515 66 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGATAAGAGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261759 178261760 178261760 upstr_intron -12 -0.1428571 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTATCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 436 27 0.8127144 0.8905763 0.8516454 NA NA 0.891428 0.8564935 NA NA -0.07871361 0.03408278 NA 0.8739608 NA -0.02231541 NA FALSE NA 0.11 0.791 . intron_variant MODIFIER COL23A1 HGNC 22990 ENST00000407622 9/15 1 NA AGA G,T 8.272e-06 5:178261760 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 intron_variant 1.172099 0.95981 0.53659 0.056701 0.7143889 0.356803 9.574492e-10 FALSE 4.06507e-06 ENSE00001404070_015 ENSE00001404070 015 5 177688657 177688826 - 66 27 77 A T 177688765 2516 62 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGTGAAGGTGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261763 178261764 178261764 upstr_intron -16 -0.1948052 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCACTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 119 79 0.9759612 0.9631834 0.9695723 NA NA 0.891428 0.8564935 NA NA 0.08453325 0.1066899 NA 0.8739608 NA 0.09561156 NA FALSE NA 0.002 1.643 . intron_variant MODIFIER COL23A1 HGNC 22990 ENST00000407622 9/15 rs561902247 1 NA GAG A,T 8.271e-06 5:178261764 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 intron_variant 1.687667 0.97484 0.19145 0.056701 0.8840936 0.796155 9.574492e-10 FALSE 4.06666e-06 ENSE00001404070_016 ENSE00001404070 016 5 177688657 177688826 - 66 27 77 G A 177688770 2517 57 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGATGTTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261768 178261769 178261769 upstr_intron -21 -0.2597403 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACATCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 72 49 1 0.9967586 0.9983793 NA NA 0.891428 0.8564935 NA NA 0.108572 0.140265 NA 0.8739608 NA 0.1244185 NA FALSE NA 0 0.829 . intron_variant MODIFIER COL23A1 HGNC 22990 ENST00000407622 9/15 1 NA GGT G,A 1.654e-05 5:178261769 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 intron_variant 2.095843 0.74403 0.06936 0.056701 0.7023389 0.360076 9.574492e-10 FALSE 2.44099e-05 ENSE00001404070_017 ENSE00001404070 017 5 177688657 177688826 - 66 27 77 G A 177688772 2518 55 AGGTGGTGGTGGGGGAGTCCATCCCACCAGATCTGGGGAGGGGCATGGGGAATAAGGAGTACTCACCTTGGGCCCTGGGGGTCCCTTTGGGCCCTGGAACAAGAGAAGAGAAGGTATTAAATGTCATACTGGAGGCTGCTCCTGGGCCTGTCCTTCTTAGCATCCTGGCT 178261655 178261825 178261770 178261771 178261771 upstr_intron -23 -0.2857143 AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAATACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT AGCCAGGATGCTAAGAAGGACAGGCCCAGGAGCAGCCTCCAGTATGACATTTAACACCTTCTCTTCTCTTGTTCCAGGGCCCAAAGGGACCCCCAGGGCCCAAGGTGAGTACTCCTTATTCCCCATGCCCCTCCCCAGATCTGGTGGGATGGACTCCCCCACCACCACCT mutant NA NA NA NA NA 246 1226 0.950246 0.891676 0.920961 NA NA 0.891428 0.8564935 NA NA 0.05881804 0.03518248 NA 0.8739608 NA 0.04700026 NA FALSE NA 0.004 0.573 rs2973745 intron_variant MODIFIER COL23A1 HGNC 22990 ENST00000407622 9/15 rs2973745 1 A:0.3153 A:0.211 A:0.4986 NA A:0.1806 A:0.4463 A:0.3303 A:0.2585 A:0.4849 TGT G,A 0.426 5:178261771 COL23A1 HGNC Symbol protein_coding 352937 ENSG00000050767 ENSE00001404070 intron_variant 2.081136 0.76881 0.04606 0.056701 0.7507442 0.285318 9.574492e-10 FALSE 0.432879 ENSE00001404121_000 ENSE00001404121 000 12 131484868 131485037 + 60 60 50 NA NA NA NA NA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 NA NA NA NA NA NA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA natural 46 104 0.7067619 0.85 0.7783809 585 789 0.9602292 0.8225121 0.8913706 0.7067619 0.85 0.9602292 0.8225121 0 0 0 0 0.7783809 0.8913706 0 0 0 FALSE FALSE NA NA NA NA NA GPR133 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADGRD1 NA NA NA ENSG00000111452 ENSE00003738461 NA NA NA NA NA NA NA NA NA NA ENSE00001404121_001 ENSE00001404121 001 12 131484868 131485037 + 60 60 50 T C 131484883 3886 16 GGTCTTCAAGTTTGTCGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 131000337 131000338 131000338 upstr_intron -45 -0.7333333 GGTCTTCAAGTTTGTCGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA mutant 24 14 0.85 0.85 0.85 NA NA NA NA NA 0.7067619 0.85 0.9602292 0.8225121 0.1432381 1.110223e-16 NA NA 0.7783809 0.8913706 0.07161906 NA NA NA FALSE 0 -0.647 . upstream_gene_variant MODIFIER GPR133 HGNC 19893 ENST00000376682 1 NA TTG T,C 1.647e-05 12:131000338 ADGRD1 HGNC Symbol protein_coding 187562 ENSG00000111452 ENSE00003738461 intron_variant -0.444829 0.23569 0.05409 0.056701 0.4464895 0.0593102 NA NA 1.22335e-05 ENSE00001404121_005 ENSE00001404121 005 12 131484868 131485037 + 60 60 50 T G 131484914 3890 47 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTGTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 131000368 131000369 131000369 upstr_intron -14 -0.2166667 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTGTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA mutant 14 10 0.85 0.85 0.85 NA NA NA NA NA 0.7067619 0.85 0.9602292 0.8225121 0.1432381 1.110223e-16 NA NA 0.7783809 0.8913706 0.07161906 NA NA NA FALSE 0 0.136 . upstream_gene_variant MODIFIER GPR133 HGNC 19893 ENST00000376682 1 NA TTT T,G 8.236e-06 12:131000369 ADGRD1 HGNC Symbol protein_coding 187562 ENSG00000111452 ENSE00003738461 intron_variant 0.094227 0.33318 0.39034 0.078448 0.5188043 0.271761 NA NA 8.13061e-06 ENSE00001404121_009 ENSE00001404121 009 12 131484868 131485037 + 60 60 50 C T 131484921 3894 54 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCATCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 131000375 131000376 131000376 upstr_intron -7 -0.1 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCATCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA mutant NA NA NA NA NA 39 181 0.9817951 0.9733215 0.9775583 0.7067619 0.85 0.9602292 0.8225121 NA NA 0.02156592 0.1508095 0.7783809 0.8913706 NA 0.08618769 NA FALSE NA 0.001 0.518 . upstream_gene_variant MODIFIER GPR133 HGNC 19893 ENST00000376682 1 NA ACC C,T 8.236e-06 12:131000376 ADGRD1 HGNC Symbol protein_coding 187562 ENSG00000111452 ENSE00003738461 splice_region_variant 0.472252 0.31457 0.07212 0.078448 0.6028148 0.344404 NA NA 4.06511e-06 ENSE00001404121_016 ENSE00001404121 016 12 131484868 131485037 + 60 60 50 A C 131484948 3901 81 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGCGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 131000402 131000403 131000403 exon 21 0.35 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGCGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA mutant NA NA NA NA NA 406 86 0.9829172 0.9552138 0.9690655 0.7067619 0.85 0.9602292 0.8225121 NA NA 0.02268801 0.1327017 0.7783809 0.8913706 NA 0.07769488 NA FALSE NA 0.937 0.018 . upstream_gene_variant MODIFIER GPR133 HGNC 19893 ENST00000376682 1 NA GAG A,C 8.236e-06 12:131000403 ADGRD1 HGNC Symbol protein_coding 187562 ENSG00000111452 ENSE00003738461 synonymous_variant -0.903873 0.29881 0.35661 0.554377 0.7131026 0 NA NA 4.06488e-06 ENSE00001404121_018 ENSE00001404121 018 12 131484868 131485037 + 60 60 50 C T 131484961 3903 94 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTATTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 131000415 131000416 131000416 exon -27 0.5666667 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTATTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA mutant 22 25 0.85 0.85 0.85 NA NA NA NA NA 0.7067619 0.85 0.9602292 0.8225121 0.1432381 1.110223e-16 NA NA 0.7783809 0.8913706 0.07161906 NA NA NA FALSE 0.055 0.016 rs141870672 upstream_gene_variant MODIFIER GPR133 HGNC 19893 ENST00000376682 rs141870672 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0016 ACT C,T 0.0009637 12:131000416 ADGRD1 HGNC Symbol protein_coding 187562 ENSG00000111452 ENSE00003738461 synonymous_variant 0.456097 0.29899 0.09558 0.554377 0.6437581 0 NA NA 0.000825257 ENSE00001404121_020 ENSE00001404121 020 12 131484868 131485037 + 60 60 50 C T 131484977 3905 110 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGTTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 131000431 131000432 131000432 exon -11 0.8333333 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGTTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA mutant NA NA NA NA NA 17 451 0.95 0.9211836 0.9355918 0.7067619 0.85 0.9602292 0.8225121 NA NA -0.01022923 0.09867153 0.7783809 0.8913706 NA 0.04422115 NA FALSE NA 0 -0.838 . upstream_gene_variant MODIFIER GPR133 HGNC 19893 ENST00000376682 COSM1662039 1 NA GCT C,T 1.647e-05 12:131000432 ADGRD1 HGNC Symbol protein_coding 187562 ENSG00000111452 ENSE00003738461 missense_variant -1.004592 0.11669 0.07288 0.554377 0.7326579 0 NA NA 8.1314e-06 ENSE00001404121_023 ENSE00001404121 023 12 131484868 131485037 + 60 60 50 T C 131485004 3908 137 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACACGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 131000458 131000459 131000459 downstr_intron 17 1.346939 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACACGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA mutant NA NA NA NA NA 111 227 0.9701479 0.9835373 0.9768426 0.7067619 0.85 0.9602292 0.8225121 NA NA 0.009918682 0.1610253 0.7783809 0.8913706 NA 0.08547198 NA FALSE NA 0.112 1.035 . upstream_gene_variant MODIFIER GPR133 HGNC 19893 ENST00000376682 1 NA ATG T,C 8.236e-06 12:131000459 ADGRD1 HGNC Symbol protein_coding 187562 ENSG00000111452 ENSE00003738461 intron_variant -0.145798 0.21152 0.05907 0.056701 0.7018616 0.0526692 NA NA 4.0665e-06 ENSE00001404121_028 ENSE00001404121 028 12 131484868 131485037 + 60 60 50 G A 131485015 3913 148 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATAGTGGCTCATACCTATAATCCCA 131000322 131000492 131000469 131000470 131000470 downstr_intron 28 1.571429 GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATAGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA mutant NA NA NA NA NA 195 62 0.9991528 0.9993838 0.9992683 0.7067619 0.85 0.9602292 0.8225121 NA NA 0.03892352 0.1768718 0.7783809 0.8913706 NA 0.1078976 NA FALSE NA 0.004 0.364 . upstream_gene_variant MODIFIER GPR133 HGNC 19893 ENST00000376682 1 NA TGG G,A 1.647e-05 12:131000470 ADGRD1 HGNC Symbol protein_coding 187562 ENSG00000111452 ENSE00003738461 intron_variant 0.022552 0.11885 0.02891 0.056701 0.6758236 0.0526692 NA NA 2.84736e-05 ENSE00001404121_BRK ENSE00001404121 BRK 12 131484868 131485037 + 60 60 50 A,G; T,T NA NA NA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTTTACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGCCAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA 131000322 131000492 NA NA NA NA NA NA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTTTACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGCCAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA GGTCTTCAAGTTTGTTGCCTAAGGACAGGTGCTGAGCAGTGTCATTTTGTCCACCTTTAGACCTTCTTAAAAGCCGTGGGAGAGATCCTTCTACTGCCTGGTTGGATTGCTCTGTCAGAGGTAAGAGAAAAGAACATGGTCGGTCATGGTGGCTCATACCTATAATCCCA control NA NA NA NA NA 99 1203 0 0 0 0.7067619 0.85 0.9602292 0.8225121 NA NA -0.9602292 -0.8225121 0.7783809 0.8913706 NA -0.8913706 NA TRUE NA NA NA NA NA NA GPR133 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADGRD1 NA NA NA ENSG00000111452 ENSE00003738461 NA NA NA NA NA NA NA NA NA NA ENSE00001404601_000 ENSE00001404601 000 4 109748238 109748407 - 53 54 63 NA NA NA NA NA TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG 108827081 108827251 NA NA NA NA NA NA TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG natural NA NA NA NA NA 287 691 0.9762085 0.9960697 0.9861391 NA NA 0.9762085 0.9960697 NA NA 0 0 NA 0.9861391 NA 0 NA FALSE NA NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00003559382 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001404601_001 ENSE00001404601 001 4 109748238 109748407 - 53 54 63 A G 109748248 1073 160 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCACAGATGACCAG 108827081 108827251 108827091 108827092 108827092 downstr_intron 43 1.826923 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCACAGATGACCAG TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG mutant NA NA NA NA NA 468 103 0.9938356 1 0.9969178 NA NA 0.9762085 0.9960697 NA NA 0.01762711 0.003930283 NA 0.9861391 NA 0.0107787 NA FALSE NA 0 -0.162 . upstream_gene_variant MODIFIER COL25A1 HGNC 18603 ENST00000512961 1 NA TAT A,G 8.273e-06 4:108827092 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003559382 intron_variant 0.747807 0.10486 0.02975 0.061011 0.6256799 0.0862473 7.11572e-08 FALSE 4.16271e-06 ENSE00001404601_003 ENSE00001404601 003 4 109748238 109748407 - 53 54 63 G A 109748250 1075 158 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGTATAGATGACCAG 108827081 108827251 108827093 108827094 108827094 downstr_intron 41 1.788462 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGTATAGATGACCAG TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG mutant NA NA NA NA NA 26 55 1 1 1 NA NA 0.9762085 0.9960697 NA NA 0.02379152 0.003930283 NA 0.9861391 NA 0.0138609 NA FALSE NA 0.001 -0.285 . upstream_gene_variant MODIFIER COL25A1 HGNC 18603 ENST00000512961 1 NA TGC G,A 2.482e-05 4:108827094 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003559382 intron_variant 1.192815 0.40005 0.05099 0.061011 0.8254125 0.132042 7.11572e-08 FALSE 2.07574e-05 ENSE00001404601_007 ENSE00001404601 007 4 109748238 109748407 - 53 54 63 G A 109748263 1079 145 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCTACCTTCCGCATGCATAGATGACCAG 108827081 108827251 108827106 108827107 108827107 downstr_intron 28 1.538462 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCTACCTTCCGCATGCATAGATGACCAG TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG mutant NA NA NA NA NA 43 1122 1 0.8097611 0.9048806 NA NA 0.9762085 0.9960697 NA NA 0.02379152 -0.1863086 NA 0.9861391 NA -0.08125852 NA FALSE NA 0.012 1.295 . upstream_gene_variant MODIFIER COL25A1 HGNC 18603 ENST00000512961 rs373880665 1 NA A:0 A:0.0001 TGG G,A 2.482e-05 4:108827107 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003559382 intron_variant 1.399066 0.22414 0.0271 0.061011 0.8342694 0.133498 7.11572e-08 FALSE 8.21362e-06 ENSE00001404601_011 ENSE00001404601 011 4 109748238 109748407 - 53 54 63 T C 109748274 1083 134 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACGTGCACCTCCCCACCTTCCGCATGCATAGATGACCAG 108827081 108827251 108827117 108827118 108827118 downstr_intron 17 1.326923 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACGTGCACCTCCCCACCTTCCGCATGCATAGATGACCAG TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG mutant NA NA NA NA NA 376 165 0.9938292 1 0.9969146 NA NA 0.9762085 0.9960697 NA NA 0.01762077 0.003930283 NA 0.9861391 NA 0.01077553 NA FALSE NA 0 -0.014 . upstream_gene_variant MODIFIER COL25A1 HGNC 18603 ENST00000512961 rs371821135 1 NA ATG T,C 8.273e-06 4:108827118 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003559382 intron_variant -0.09661 0.12092 0.00139 0.061011 0.5360147 0.0862473 7.11572e-08 FALSE NA ENSE00001404601_013 ENSE00001404601 013 4 109748238 109748407 - 53 54 63 C T 109748279 1085 129 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGATCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG 108827081 108827251 108827122 108827123 108827123 downstr_intron 12 1.230769 TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGATCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG mutant NA NA NA NA NA 51 57 1 1 1 NA NA 0.9762085 0.9960697 NA NA 0.02379152 0.003930283 NA 0.9861391 NA 0.0138609 NA FALSE NA 0 -0.301 . upstream_gene_variant MODIFIER COL25A1 HGNC 18603 ENST00000512961 1 NA ACC C,T 4.137e-05 4:108827123 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003559382 intron_variant 0.072744 0.17408 0.06825 0.061011 0.5384534 0.0862473 7.11572e-08 FALSE 2.86067e-05 ENSE00001404601_029 ENSE00001404601 029 4 109748238 109748407 - 53 54 63 A G 109748393 1101 15 TGAGAGAAAGTGTGCGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG 108827081 108827251 108827236 108827237 108827237 upstr_intron -49 -0.7619048 TGAGAGAAAGTGTGCGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG TGAGAGAAAGTGTGTGAATGTAGGTGGGTGTGTATGATTTGAACTTTCTACTTTTCATTTTAGGGTGAAAAAGGAGCTATGGGAGAGCCTGGACCAAGAGGGCCCTATGGGCTGCCTGTGAGTTCCTGGTCACATGCACCTCCCCACCTTCCGCATGCATAGATGACCAG mutant NA NA NA NA NA 12 152 1 0.8958179 0.947909 NA NA 0.9762085 0.9960697 NA NA 0.02379152 -0.1002518 NA 0.9861391 NA -0.03823013 NA FALSE NA 0 0.349 . upstream_gene_variant MODIFIER COL25A1 HGNC 18603 ENST00000512961 1 NA CAC A,G 8.275e-06 4:108827237 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003559382 intron_variant 0.083424 0.19294 0.09685 0.061011 0.4555957 0.0436289 7.11572e-08 FALSE 4.15431e-06 ENSE00001405059_000 ENSE00001405059 000 2 189856332 189856501 + 63 54 53 NA NA NA NA NA TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 NA NA NA NA NA NA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA natural 16 24 0.6573274 0.7597121 0.7085198 2354 1797 0.749171 0.7937078 0.7714394 0.6573274 0.7597121 0.749171 0.7937078 0 0 0 0 0.7085198 0.7714394 0 0 0 FALSE FALSE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001405059 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001405059_002 ENSE00001405059 002 2 189856332 189856501 + 63 54 53 A T 189856351 3443 20 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACAAGTGTAAGAACAGTTGGGGT 188991605 188991775 188991624 188991625 188991625 upstr_intron -44 -0.6825397 ACCCCAACTGTTCTTACACTTGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 205 169 0.8 0.8 0.8 0.6573274 0.7597121 0.749171 0.7937078 NA NA 0.05082904 0.006292218 0.7085198 0.7714394 NA 0.02856063 NA FALSE NA 0 -0.478 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 12/41 1 NA CAT A,T 8.236e-06 2:188991625 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 intron_variant 0.108407 0.28852 0.09577 0.061011 0.6316342 0.310265 1 TRUE NA ENSE00001405059_007 ENSE00001405059 007 2 189856332 189856501 + 63 54 53 A G 189856375 3448 44 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAATTGAAACATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991648 188991649 188991649 upstr_intron -20 -0.3015873 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATGTTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 17 266 0.8866928 0.8 0.8433464 0.6573274 0.7597121 0.749171 0.7937078 NA NA 0.1375218 0.006292218 0.7085198 0.7714394 NA 0.07190703 NA FALSE NA 0 -0.599 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 12/41 rs368279636 1 NA G:0 G:0.0001 TAT A,G 8.237e-06 2:188991649 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 intron_variant -0.211316 0.26203 0.19892 0.061011 0.3751006 0.0851627 1 TRUE 8.12658e-06 ENSE00001405059_008 ENSE00001405059 008 2 189856332 189856501 + 63 54 53 A G 189856381 3449 50 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAACTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991654 188991655 188991655 upstr_intron -14 -0.2063492 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAGTTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 51 1095 0 0 0 0.6573274 0.7597121 0.749171 0.7937078 NA NA -0.749171 -0.7937078 0.7085198 0.7714394 NA -0.7714394 NA TRUE NA 0 1.136 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 12/41 1 NA AAT A,G 1.647e-05 2:188991655 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 intron_variant 0.991926 0.28329 0.06048 0.061011 0.7233627 0.136459 1 TRUE 1.21904e-05 ENSE00001405059_009 ENSE00001405059 009 2 189856332 189856501 + 63 54 53 C A 189856387 3450 56 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGATTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991660 188991661 188991661 upstr_intron -8 -0.1111111 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTAATCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 985 3241 0.02849532 0.004767326 0.01663132 0.6573274 0.7597121 0.749171 0.7937078 NA NA -0.7206756 -0.7889405 0.7085198 0.7714394 NA -0.754808 NA TRUE NA 0 0.145 . splice_region_variant&intron_variant LOW COL3A1 HGNC 2201 ENST00000317840 12/41 1 NA ACT C,A 8.236e-06 2:188991661 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 splice_region_variant 0.878984 0.25567 0.14895 0.061011 0.6689849 0.14362 1 TRUE 4.06365e-06 ENSE00001405059_010 ENSE00001405059 010 2 189856332 189856501 + 63 54 53 T C 189856390 3451 59 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACGGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991663 188991664 188991664 upstr_intron -5 -0.06349206 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCCGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 20 202 0.9843094 0.9581271 0.9712182 0.6573274 0.7597121 0.749171 0.7937078 NA NA 0.2351384 0.1644193 0.7085198 0.7714394 NA 0.1997789 NA FALSE NA 0 0.27 . splice_region_variant&intron_variant LOW COL3A1 HGNC 2201 ENST00000317840 12/41 rs535434618 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 CTG T,C 0.0002718 2:188991664 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 splice_region_variant 0.689686 0.27216 0.14909 0.061011 0.563872 0.211736 1 TRUE 0.000243813 ENSE00001405059_012 ENSE00001405059 012 2 189856332 189856501 + 63 54 53 C G 189856398 3453 67 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGCACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991671 188991672 188991672 exon 4 0.07407407 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTGCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 101 381 0.1988456 0 0.09942281 0.6573274 0.7597121 0.749171 0.7937078 NA NA -0.5503253 -0.7937078 0.7085198 0.7714394 NA -0.6720166 NA TRUE NA 1 3.341 NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:188991672 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 missense_variant 2.35899 0.99155 0.97904 0.487112 0.9785794 0 1 TRUE 4.06365e-06 ENSE00001405059_014 ENSE00001405059 014 2 189856332 189856501 + 63 54 53 G C 189856407 3455 76 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGGCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991680 188991681 188991681 exon 13 0.2407407 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGCCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 1050 176 0.002583496 0.002879498 0.002731497 0.6573274 0.7597121 0.749171 0.7937078 NA NA -0.7465875 -0.7908283 0.7085198 0.7714394 NA -0.7687079 NA TRUE NA 0 -0.255 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 13/42 COSM572485 1 unknown(0) NA GGC G,C 8.236e-06 2:188991681 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 missense_variant 0.015372 0.232 0.05202 0.487112 0.6636558 0 1 TRUE 8.12764e-06 ENSE00001405059_015 ENSE00001405059 015 2 189856332 189856501 + 63 54 53 C A 189856408 3456 77 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGATCCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991681 188991682 188991682 exon 14 0.2592593 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGATCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 1420 37 0.9600419 0.9957013 0.9778716 0.6573274 0.7597121 0.749171 0.7937078 NA NA 0.2108709 0.2019935 0.7085198 0.7714394 NA 0.2064322 NA FALSE NA 0.018 1.147 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 13/42 1 unknown(0) NA GCT C,A 5.765e-05 2:188991682 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 missense_variant 2.696064 0.84604 0.67464 0.487112 0.9793187 0 1 TRUE 4.47013e-05 ENSE00001405059_016 ENSE00001405059 016 2 189856332 189856501 + 63 54 53 G A 189856420 3457 89 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTTGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991693 188991694 188991694 exon 26 0.4814815 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCAAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 76 642 0.01053767 0.05473704 0.03263735 0.6573274 0.7597121 0.749171 0.7937078 NA NA -0.7386333 -0.7389707 0.7085198 0.7714394 NA -0.738802 NA TRUE NA 1 8.889 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 13/42 1 unknown(0) NA CGA G,A 2.471e-05 2:188991694 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 missense_variant 5.85765 0.99567 0.99647 0.487112 0.9991347 0 1 TRUE 1.62545e-05 ENSE00001405059_017 ENSE00001405059 017 2 189856332 189856501 + 63 54 53 C T 189856425 3458 94 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCATCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991698 188991699 188991699 exon -24 0.5740741 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGATGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 115 830 0.002621143 0.006235026 0.004428084 0.6573274 0.7597121 0.749171 0.7937078 NA NA -0.7465498 -0.7874728 0.7085198 0.7714394 NA -0.7670113 NA TRUE NA 1 4.271 . missense_variant MODERATE COL3A1 HGNC 2201 ENST00000317840 13/42 COSM1013942 1 unknown(0) NA ACG C,T 2.471e-05 2:188991699 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 missense_variant 6.507632 0.9882 0.97551 0.487112 0.9966274 0 1 TRUE 3.65717e-05 ENSE00001405059_020 ENSE00001405059 020 2 189856332 189856501 + 63 54 53 T A 189856436 3461 105 TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGTAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991709 188991710 188991710 exon -13 0.7777778 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTACCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 650 314 0.728202 0.8 0.764101 0.6573274 0.7597121 0.749171 0.7937078 NA NA -0.02096895 0.006292218 0.7085198 0.7714394 NA -0.007338366 NA FALSE NA 0.042 0.509 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 13/42 1 NA TTC T,A 1.647e-05 2:188991710 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 synonymous_variant 0.648026 0.96676 0.94599 0.487112 0.5164348 0 1 TRUE NA ENSE00001405059_023 ENSE00001405059 023 2 189856332 189856501 + 63 54 53 C T 189856471 3464 140 TAAAAATCTGTCACTTTGGGTTGTAATTGTATGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991744 188991745 188991745 downstr_intron 23 1.442308 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCATACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 286 311 0.8586578 0.8 0.8293289 0.6573274 0.7597121 0.749171 0.7937078 NA NA 0.1094869 0.006292218 0.7085198 0.7714394 NA 0.05788954 NA FALSE NA 0 -1.043 rs13395712 intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 13/41 rs13395712 1 T:0.0032 T:0.0121 T:0 NA T:0 T:0 T:0 T:0.0107 T:0 ACA C,T 0.001087 2:188991745 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 intron_variant 0.135702 0.20265 0.00733 0.061011 0.5146598 0.0463496 1 TRUE 0.000772596 ENSE00001405059_026 ENSE00001405059 026 2 189856332 189856501 + 63 54 53 C T 189856484 3467 153 TAAAAATCTGTCACTTTAGGTTGTAATTGTGTGATGTTAGCAGCTATACTCACTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCCTACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 188991757 188991758 188991758 downstr_intron 36 1.692308 ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCTAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA mutant NA NA NA NA NA 356 2276 0.8110631 0.7105626 0.7608129 0.6573274 0.7597121 0.749171 0.7937078 NA NA 0.06189217 -0.08314518 0.7085198 0.7714394 NA -0.01062651 NA FALSE NA 0 -0.032 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 13/41 1 NA CCA C,T 8.236e-06 2:188991758 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001405059 intron_variant 0.624058 0.92924 0.23811 0.061011 0.6559201 0.0463496 1 TRUE 4.06845e-06 ENSE00001405059_BRK ENSE00001405059 BRK 2 189856332 189856501 + 63 54 53 A,G; T,T NA NA NA TAAAAATCTGTCACTTTGGGTTGTAATTGTGTGATGTTAGCAGCTATACTCGGTGCAGCCCCAGGAAGTCCTGGCCGTCCTCGCTCACCAGGAGCCCCTCTTGGACCAAACAGAGTAAAATTGAAATATGGTTTTACTCTAATCTTGACATGTGTAAGAACAGTTGGGGT 188991605 188991775 NA NA NA NA NA NA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTTTGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCACCGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA ACCCCAACTGTTCTTACACATGTCAAGATTAGAGTAAAACCATATTTCAATTTTACTCTGTAGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGTGAGTATAGCTGCTAACATCACACAATTACAACCCAAAGTGACAGATTTTTA control 255 212 0 0 0 538 31 0 0 0 0.6573274 0.7597121 0.749171 0.7937078 -0.6573274 -0.7597121 -0.749171 -0.7937078 0.7085198 0.7714394 -0.7085198 -0.7714394 0.06291959 TRUE TRUE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001405059 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001407717_000 ENSE00001407717 000 11 12535488 12535657 + 56 69 45 NA NA NA NA NA TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 NA NA NA NA NA NA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA natural 99 82 0.8218113 0.85 0.8359056 848 1650 0.958395 0.9623342 0.9603646 0.8218113 0.85 0.958395 0.9623342 0 0 0 0 0.8359056 0.9603646 0 0 0 FALSE FALSE NA NA NA NA NA PARVA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PARVA NA NA NA ENSG00000197702 ENSE00001407717 NA NA NA NA NA NA NA 0.343764 FALSE NA ENSE00001407717_002 ENSE00001407717 002 11 12535488 12535657 + 56 69 45 G A 12535506 474 19 TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTTGCACTAGTGCAGGAGCCT 12513940 12514110 12513958 12513959 12513959 upstr_intron -38 -0.6607143 AGGCTCCTGCACTAGTGCAAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant 33 95 0.85 0.8859873 0.8679937 NA NA NA NA NA 0.8218113 0.85 0.958395 0.9623342 0.0281887 0.03598733 NA NA 0.8359056 0.9603646 0.03208802 NA NA NA FALSE 0 -0.175 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA CGA G,A 8.273e-06 11:12513959 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 intron_variant -0.133198 0.17383 0.01884 0.062308 0.5447669 0.0541258 0.343764 FALSE 3.72986e-05 ENSE00001407717_006 ENSE00001407717 006 11 12535488 12535657 + 56 69 45 G T 12535522 478 35 TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAAAGAGAAGCAAAGCAGGACCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12513974 12513975 12513975 upstr_intron -22 -0.375 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGTCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 24 89 1 1 1 0.8218113 0.85 0.958395 0.9623342 NA NA 0.04160503 0.03766577 0.8359056 0.9603646 NA 0.0396354 NA FALSE NA 0 -0.146 NA NA NA PARVA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:12513975 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 intron_variant -0.022878 0.21661 0.01844 0.062308 0.7599018 0.0541258 0.343764 FALSE 3.68919e-05 ENSE00001407717_008 ENSE00001407717 008 11 12535488 12535657 + 56 69 45 C A 12535537 480 50 TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAAATAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12513989 12513990 12513990 upstr_intron -7 -0.1071429 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTATTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 235 163 0.8 0.9390162 0.8695081 0.8218113 0.85 0.958395 0.9623342 NA NA -0.158395 -0.023318 0.8359056 0.9603646 NA -0.09085649 NA FALSE NA 0.044 0.025 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA TCT C,A 1.654e-05 11:12513990 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 splice_region_variant 1.853856 0.60996 0.30495 0.062308 0.7602618 0.253418 0.343764 FALSE 1.63321e-05 ENSE00001407717_009 ENSE00001407717 009 11 12535488 12535657 + 56 69 45 T C 12535539 481 52 TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAGAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12513991 12513992 12513992 upstr_intron -5 -0.07142857 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTCTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 378 116 0.8 0.8554543 0.8277272 0.8218113 0.85 0.958395 0.9623342 NA NA -0.158395 -0.1068799 0.8359056 0.9603646 NA -0.1326374 NA FALSE NA 0.651 1.818 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA TTT T,C 8.271e-06 11:12513992 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 splice_region_variant 1.469457 0.98286 0.84938 0.062308 0.8987736 0.945224 0.343764 FALSE 8.15747e-06 ENSE00001407717_010 ENSE00001407717 010 11 12535488 12535657 + 56 69 45 C G 12535545 482 58 TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTCTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12513997 12513998 12513998 exon 2 0.02898551 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGAGACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 46 192 1 0.9726476 0.9863238 0.8218113 0.85 0.958395 0.9623342 NA NA 0.04160503 0.01031335 0.8359056 0.9603646 NA 0.02595919 NA FALSE NA 1 7.796 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA ACA C,G 8.272e-06 11:12513998 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 missense_variant 6.547683 0.99523 0.9905 0.706298 0.9934677 0 0.343764 FALSE 8.15854e-06 ENSE00001407717_012 ENSE00001407717 012 11 12535488 12535657 + 56 69 45 T A 12535548 484 61 TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGTGTGTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12514000 12514001 12514001 exon 5 0.07246377 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACACATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant 79 64 0.85 0.85 0.85 NA NA NA NA NA 0.8218113 0.85 0.958395 0.9623342 0.0281887 0 NA NA 0.8359056 0.9603646 0.01409435 NA NA NA FALSE 1 8.018 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA CTC T,A 8.271e-06 11:12514001 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 missense_variant 6.76087 0.99328 0.98768 0.706298 0.9842117 0 0.343764 FALSE 8.15601e-06 ENSE00001407717_014 ENSE00001407717 014 11 12535488 12535657 + 56 69 45 C T 12535552 486 65 TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTAATGAGTGTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12514004 12514005 12514005 exon 9 0.1304348 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATTACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 23 159 0.8 0.8 0.8 0.8218113 0.85 0.958395 0.9623342 NA NA -0.158395 -0.1623342 0.8359056 0.9603646 NA -0.1603646 NA FALSE NA 1 1.549 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA TCA C,T 8.271e-06 11:12514005 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 synonymous_variant 1.79548 0.98103 0.89124 0.706298 0.7801674 0 0.343764 FALSE 4.07657e-06 ENSE00001407717_020 ENSE00001407717 020 11 12535488 12535657 + 56 69 45 C T 12535625 492 138 TAGGGCAGGGCCCTGCCTCTACCTGTGCTGGGATCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12514077 12514078 12514078 downstr_intron 13 1.295455 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGATCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 1765 442 0.9764255 0.9720362 0.9742309 0.8218113 0.85 0.958395 0.9623342 NA NA 0.01803056 0.009701972 0.8359056 0.9603646 NA 0.01386627 NA FALSE NA 0 -0.449 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 rs372221573 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0002 ACC C,T 0.00048 11:12514078 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 intron_variant 0.563023 0.20278 0.0131 0.062308 0.5421459 0.0987819 0.343764 FALSE 0.00044644 ENSE00001407717_021 ENSE00001407717 021 11 12535488 12535657 + 56 69 45 G A 12535630 493 143 TAGGGCAGGGCCCTGCCTCTACCTGTGTTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12514082 12514083 12514083 downstr_intron 18 1.409091 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAACACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 70 116 1 0.9898816 0.9949408 0.8218113 0.85 0.958395 0.9623342 NA NA 0.04160503 0.02754737 0.8359056 0.9603646 NA 0.0345762 NA FALSE NA 0 0.419 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA AGC G,A 1.655e-05 11:12514083 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 intron_variant 0.263568 0.21865 0.09159 0.062308 0.5086333 0.0549429 0.343764 FALSE 4.10061e-06 ENSE00001407717_022 ENSE00001407717 022 11 12535488 12535657 + 56 69 45 C G 12535631 494 144 TAGGGCAGGGCCCTGCCTCTACCTGTCCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12514083 12514084 12514084 downstr_intron 19 1.431818 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGGACAGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 111 11 0.8 0.8 0.8 0.8218113 0.85 0.958395 0.9623342 NA NA -0.158395 -0.1623342 0.8359056 0.9603646 NA -0.1603646 NA FALSE NA 0 -1.914 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA GCA C,G 8.277e-06 11:12514084 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 intron_variant 0.062627 0.11864 0.0231 0.062308 0.545835 0.0555611 0.343764 FALSE 4.10078e-06 ENSE00001407717_023 ENSE00001407717 023 11 12535488 12535657 + 56 69 45 A G 12535634 495 147 TAGGGCAGGGCCCTGCCTCTACCCGTGCTGGGGTCTGTCACCCACCTGGGTTTCCAGTTCTGTGACCTCCAGGTTCAGTTTATTCAGGTGCTTGTTCACGAAAGTGATGAGTGTCTAAAAGAGAAGCAAAGCAGGCCCTAAGCTGGGGACTCGCACTAGTGCAGGAGCCT 12513940 12514110 12514086 12514087 12514087 downstr_intron 22 1.5 AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACGGGTAGAGGCAGGGCCCTGCCCTA AGGCTCCTGCACTAGTGCGAGTCCCCAGCTTAGGGCCTGCTTTGCTTCTCTTTTAGACACTCATCACTTTCGTGAACAAGCACCTGAATAAACTGAACCTGGAGGTCACAGAACTGGAAACCCAGGTGGGTGACAGACCCCAGCACAGGTAGAGGCAGGGCCCTGCCCTA mutant NA NA NA NA NA 23 502 0.9784985 0.985978 0.9822383 0.8218113 0.85 0.958395 0.9623342 NA NA 0.02010356 0.02364381 0.8359056 0.9603646 NA 0.02187368 NA FALSE NA 0.001 0.222 . downstream_gene_variant MODIFIER PARVA HGNC 14652 ENST00000528916 1 NA CAG A,G 1.656e-05 11:12514087 PARVA HGNC Symbol protein_coding 153616 ENSG00000197702 ENSE00001407717 intron_variant 0.221714 0.17963 0.06462 0.062308 0.8123545 0.0555611 0.343764 FALSE NA ENSE00001408097_000 ENSE00001408097 000 8 25209205 25209374 + 42 96 32 NA NA NA NA NA CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 NA NA NA NA NA NA CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC natural 34 146 0.9411828 0.7456066 0.8433947 1815 1649 0.8916316 0.9971792 0.9444054 0.9411828 0.7456066 0.8916316 0.9971792 0 0 0 0 0.8433947 0.9444054 0 0 0 FALSE FALSE NA NA NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003589644 NA NA NA NA NA NA NA 0.001342686 FALSE NA ENSE00001408097_002 ENSE00001408097 002 8 25209205 25209374 + 42 96 32 A G 25209219 338 15 CTGAGTCAGAAGGAGTGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351702 25351703 25351703 upstr_intron -28 -0.6428571 CTGAGTCAGAAGGAGTGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 770 335 0.9971613 0.9904934 0.9938274 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1055297 -0.006685783 0.8433947 0.9444054 NA 0.04942198 NA FALSE NA 0 -0.319 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 26/51 rs373944944 1 NA G:0.0002 G:0 AAT A,G 2.471e-05 8:25351703 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 non_coding_transcript_exon_variant 0.295288 0.19863 0.02791 0.074636 0.5635374 0.046875 0.001342686 FALSE 8.51484e-06 ENSE00001408097_003 ENSE00001408097 003 8 25209205 25209374 + 42 96 32 T C 25209238 339 34 GCGGCCGTGGGATCCAACAAAGAGATACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCAGTGGCACCCTGCAGGGGACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351721 25351722 25351722 upstr_intron -9 -0.1904762 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTCCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 399 145 0.9850736 0.9978123 0.9914429 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.09344201 0.0006330691 0.8433947 0.9444054 NA 0.04703754 NA FALSE NA 0 -0.078 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 26/51 1 NA TTC T,C 8.237e-06 8:25351722 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 non_coding_transcript_exon_variant 0.135758 0.23371 0.02574 0.074636 0.4959763 0.0497834 0.001342686 FALSE 1.23199e-05 ENSE00001408097_005 ENSE00001408097 005 8 25209205 25209374 + 42 96 32 A G 25209253 341 49 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCGCTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351736 25351737 25351737 exon 7 0.07291667 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCGCTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 986 324 1 1 1 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1083684 0.002820784 0.8433947 0.9444054 NA 0.05559461 NA FALSE NA 1 5.398 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 deleterious(0.01) benign(0.081) NA CAC A,G 8.237e-06 8:25351737 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 2.082886 0.98231 0.96409 0.638212 0.975769 0 0.001342686 FALSE 4.07528e-06 ENSE00001408097_006 ENSE00001408097 006 8 25209205 25209374 + 42 96 32 T G 25209255 342 51 GCGGCCGTGGGATCCAACAAAGAGATACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCCGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351738 25351739 25351739 exon 9 0.09375 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACGGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1415 870 0.9542146 0.9962388 0.9752267 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.06258304 -0.0009403951 0.8433947 0.9444054 NA 0.03082132 NA FALSE NA 0 -2.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25351739 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 synonymous_variant -0.247093 0.1684 0.03684 0.638212 0.3288818 0 0.001342686 FALSE 4.07352e-06 ENSE00001408097_007 ENSE00001408097 007 8 25209205 25209374 + 42 96 32 T C 25209255 343 51 GCGGCCGTGGGATCCAACAAAGAGATACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCGGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351738 25351739 25351739 exon 9 0.09375 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACCGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 453 1117 1 0.9826523 0.9913261 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1083684 -0.01452695 0.8433947 0.9444054 NA 0.04692075 NA FALSE NA 0 -2.44 NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003589644 synonymous_variant -0.583437 0.16698 0.03938 0.638212 0.32702 0 0.001342686 FALSE 8.14704e-06 ENSE00001408097_008 ENSE00001408097 008 8 25209205 25209374 + 42 96 32 C T 25209257 344 53 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGTGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351740 25351741 25351741 exon 11 0.1145833 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGTGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 820 860 0.9975098 0.9991039 0.9983068 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1058782 0.001924656 0.8433947 0.9444054 NA 0.05390144 NA FALSE NA 0 0.611 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 tolerated(0.55) benign(0.018) NA GCG C,T 4.942e-05 8:25351741 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 0.102233 0.25654 0.1096 0.638212 0.6957757 0 0.001342686 FALSE 6.11207e-05 ENSE00001408097_009 ENSE00001408097 009 8 25209205 25209374 + 42 96 32 G A 25209258 345 54 GCGGCCGTGGGATCCAACAAAGAGATACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACTGCAGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351741 25351742 25351742 exon 12 0.125 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCAGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1312 887 0.9110125 1 0.9555062 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.01938093 0.002820784 0.8433947 0.9444054 NA 0.01110086 NA FALSE NA 0 -3.605 . synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 27/52 rs368070746&COSM1456255 1 NA A:0 A:0.0001 CGG G,A 8.237e-06 8:25351742 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 synonymous_variant 0.758375 0.1177 0.02653 0.638212 0.3300364 0 0.001342686 FALSE 1.22221e-05 ENSE00001408097_010 ENSE00001408097 010 8 25209205 25209374 + 42 96 32 A G 25209274 346 70 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTGTAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351757 25351758 25351758 exon 28 0.2916667 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTGTAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 212 1106 0.9874773 0.9989958 0.9932366 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.09584574 0.001816626 0.8433947 0.9444054 NA 0.04883118 NA FALSE NA 1 3.914 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 tolerated(0.28) benign(0.003) NA TAT A,G 8.236e-06 8:25351758 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 1.430168 0.98371 0.95388 0.638212 0.979694 0 0.001342686 FALSE 4.06564e-06 ENSE00001408097_011 ENSE00001408097 011 8 25209205 25209374 + 42 96 32 A G 25209276 347 72 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATGATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351759 25351760 25351760 exon 30 0.3125 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATGATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 428 3407 0.9035859 0.9582726 0.9309293 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.01195437 -0.03890662 0.8433947 0.9444054 NA -0.01347613 NA FALSE NA 0.931 0.046 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 rs374384099 1 deleterious(0.01) benign(0.036) NA G:0 G:0.0001 TAA A,G 8.236e-06 8:25351760 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 2.551991 0.961 0.74242 0.638212 0.9963223 0 0.001342686 FALSE 4.06524e-06 ENSE00001408097_012 ENSE00001408097 012 8 25209205 25209374 + 42 96 32 A G 25209277 348 73 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAGTGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351760 25351761 25351761 exon 31 0.3229167 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAGTGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1724 1730 0.9916224 0.9992263 0.9954244 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.09999084 0.002047113 0.8433947 0.9444054 NA 0.05101897 NA FALSE NA 1 6.754 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 tolerated(0.12) benign(0.027) NA AAT A,G 8.236e-06 8:25351761 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 1.628944 0.98764 0.98077 0.638212 0.9711353 0 0.001342686 FALSE 4.06494e-06 ENSE00001408097_013 ENSE00001408097 013 8 25209205 25209374 + 42 96 32 A G 25209281 349 77 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGGACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351764 25351765 25351765 exon 35 0.3645833 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGGACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 714 1108 0.9989665 0.9999656 0.9994661 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1073349 0.00278643 0.8433947 0.9444054 NA 0.05506068 NA FALSE NA 1 6.703 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 tolerated(0.23) benign(0.367) NA GAA A,G 8.236e-06 8:25351765 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 2.901972 0.98349 0.97406 0.638212 0.9937001 0 0.001342686 FALSE 4.06464e-06 ENSE00001408097_014 ENSE00001408097 014 8 25209205 25209374 + 42 96 32 G A 25209284 350 80 GCGGCCGTGGGATCCAACAAAGAGATACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCTGTTCCATTATAAGCTGAATGTGCACCGCAGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351767 25351768 25351768 exon 38 0.3958333 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACAGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1837 1202 0.8163954 0.6682631 0.7423293 0.9411828 0.7456066 0.8916316 0.9971792 NA NA -0.07523614 -0.3289161 0.8433947 0.9444054 NA -0.2020761 NA FALSE NA 1 7.213 rs139516143 missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 rs139516143&COSM605150 1 tolerated(0.51) benign(0.326) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 8.236e-06 8:25351768 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 3.752019 0.9903 0.98131 0.638212 0.9725839 0 0.001342686 FALSE 1.21953e-05 ENSE00001408097_015 ENSE00001408097 015 8 25209205 25209374 + 42 96 32 C T 25209286 351 82 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGTTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351769 25351770 25351770 exon 40 0.4166667 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGTTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 324 1992 1 0.9673861 0.983693 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1083684 -0.02979314 0.8433947 0.9444054 NA 0.03928765 NA FALSE NA 1 5.427 rs150961399 synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 27/52 rs150961399 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 GCT C,T 4.942e-05 8:25351770 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 synonymous_variant 1.63548 0.99016 0.97011 0.638212 0.6798166 0 0.001342686 FALSE 5.28421e-05 ENSE00001408097_016 ENSE00001408097 016 8 25209205 25209374 + 42 96 32 G A 25209297 352 93 GCGGCCGTGGGATCCAACAAAGAGATACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATTCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCAGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351780 25351781 25351781 exon -46 0.53125 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGAATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 572 151 0.9331096 1 0.9665548 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.04147806 0.002820784 0.8433947 0.9444054 NA 0.02214942 NA FALSE NA 1 2.522 rs149707730 synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 27/52 rs149707730 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.002 A:0 GGA G,A 0.0001235 8:25351781 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 synonymous_variant 1.461042 0.98305 0.92311 0.638212 0.7913103 0 0.001342686 FALSE 0.00010972 ENSE00001408097_017 ENSE00001408097 017 8 25209205 25209374 + 42 96 32 C T 25209304 353 100 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACTGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351787 25351788 25351788 exon -39 0.6041667 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACTGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 712 58 0.9938903 0.9972634 0.9955768 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1022587 8.416006e-05 0.8433947 0.9444054 NA 0.05117143 NA FALSE NA 1 1.963 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 deleterious(0) probably_damaging(0.995) NA CCG C,T 4.118e-05 8:25351788 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 7.973817 0.98616 0.94205 0.638212 0.9993431 0 0.001342686 FALSE 1.62567e-05 ENSE00001408097_019 ENSE00001408097 019 8 25209205 25209374 + 42 96 32 G A 25209310 355 106 GCGGCCGTGGGATCCAACAAAGAGATACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCATTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCAGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351793 25351794 25351794 exon -33 0.6666667 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAATGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1256 419 1 0.9958251 0.9979126 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1083684 -0.0013541 0.8433947 0.9444054 NA 0.05350717 NA FALSE NA 1 9.019 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 rs368530273 1 deleterious(0) probably_damaging(0.942) NA A:0 A:0.0001 AGT G,A 8.236e-06 8:25351794 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 6.518231 0.99417 0.99145 0.638212 0.9991908 0 0.001342686 FALSE 8.12836e-06 ENSE00001408097_021 ENSE00001408097 021 8 25209205 25209374 + 42 96 32 C T 25209325 357 121 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACTGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351808 25351809 25351809 exon -18 0.8229167 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACTGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1120 977 0.8672657 1 0.9336328 0.9411828 0.7456066 0.8916316 0.9971792 NA NA -0.02436591 0.002820784 0.8433947 0.9444054 NA -0.01077256 NA FALSE NA 1 1.055 rs150088133 missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 rs552784556 1 deleterious(0) possibly_damaging(0.836) T:0.0042 T:0 T:0 NA T:0 T:0 T:0.0215 CCG C,T 0.002496 8:25351809 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 7.786532 0.97378 0.87624 0.638212 0.9990811 0 0.001342686 FALSE 0.00227857 ENSE00001408097_022 ENSE00001408097 022 8 25209205 25209374 + 42 96 32 G A 25209326 358 122 GCGGCCGTGGGATCCAACAAAGAGATACTCACGATGTGGGGAGACTGCTGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCAGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351809 25351810 25351810 exon -17 0.8333333 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCAGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 230 304 0.998015 0.9797086 0.9888618 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1063834 -0.01747057 0.8433947 0.9444054 NA 0.04445644 NA FALSE NA 1 4.954 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 deleterious(0.02) possibly_damaging(0.63) NA CGG G,A 2.471e-05 8:25351810 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 7.590077 0.98989 0.96794 0.638212 0.9994185 0 0.001342686 FALSE 1.62775e-05 ENSE00001408097_024 ENSE00001408097 024 8 25209205 25209374 + 42 96 32 A T 25209329 360 125 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCTGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351812 25351813 25351813 exon -14 0.8645833 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCTGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 102 101 1 1 1 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1083684 0.002820784 0.8433947 0.9444054 NA 0.05559461 NA FALSE NA 1 4.029 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 deleterious(0.01) benign(0.001) NA CAG A,T 4.118e-05 8:25351813 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 4.329077 0.98291 0.93351 0.638212 0.9897921 0 0.001342686 FALSE 4.06855e-05 ENSE00001408097_025 ENSE00001408097 025 8 25209205 25209374 + 42 96 32 C G 25209335 361 131 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCGCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351818 25351819 25351819 exon -8 0.9270833 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCGCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 698 1136 0.9942002 1 0.9971001 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1025686 0.002820784 0.8433947 0.9444054 NA 0.05269471 NA FALSE NA 0.998 4.369 NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:25351819 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 4.947758 0.9943 0.98199 0.638212 0.9971574 0 0.001342686 FALSE 1.63003e-05 ENSE00001408097_027 ENSE00001408097 027 8 25209205 25209374 + 42 96 32 C T 25209337 363 133 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCTACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351820 25351821 25351821 exon -6 0.9479167 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCTACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1396 892 0.9958614 0.9998227 0.997842 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1042299 0.002643443 0.8433947 0.9444054 NA 0.05343666 NA FALSE NA 1 5.452 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 1 tolerated(0.25) benign(0.002) NA CCA C,T 8.236e-06 8:25351821 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 2.673003 0.99401 0.97906 0.638212 0.9893614 0 0.001342686 FALSE 4.07637e-06 ENSE00001408097_028 ENSE00001408097 028 8 25209205 25209374 + 42 96 32 A G 25209338 364 134 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCGCATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351821 25351822 25351822 exon -5 0.9583333 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCGCATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1443 686 0.9996367 1 0.9998183 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1080051 0.002820784 0.8433947 0.9444054 NA 0.05541295 NA FALSE NA 1 6.32 rs138358264 missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 27/52 rs138358264 1 tolerated(0.08) benign(0.09) NA G:0 G:0.0001 CAC A,G 1.647e-05 8:25351822 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 missense_variant 2.079779 0.98727 0.95841 0.638212 0.9881414 0 0.001342686 FALSE 1.22322e-05 ENSE00001408097_029 ENSE00001408097 029 8 25209205 25209374 + 42 96 32 C T 25209342 365 138 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATTGTGAGTATCTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351825 25351826 25351826 exon -1 1 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATTGTGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 506 633 0.9970348 1 0.9985174 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1054032 0.002820784 0.8433947 0.9444054 NA 0.054112 NA FALSE NA 0 -3.882 . splice_region_variant&synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 27/52 COSM1739467 1 NA TCG C,T 8.236e-06 8:25351826 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 splice_region_variant 1.31748 0.12171 0.01795 0.638212 0.7986654 0 0.001342686 FALSE 1.22489e-05 ENSE00001408097_030 ENSE00001408097 030 8 25209205 25209374 + 42 96 32 G A 25209343 366 139 GCGGCCGTGGGATCCAACAAAGAGATACTCATGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCAGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351826 25351827 25351827 downstr_intron 1 1.032258 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCATGAGTATCTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 33 41 0 0 0 0.9411828 0.7456066 0.8916316 0.9971792 NA NA -0.8916316 -0.9971792 0.8433947 0.9444054 NA -0.9444054 NA TRUE NA 1 9.019 . splice_donor_variant HIGH DOCK5 HGNC 23476 ENST00000276440 27/51 COSM3670389 1 NA HC CGT G,A 8.236e-06 8:25351827 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 splice_donor_variant 5.871971 0.99417 0.99145 0.074636 0.9955519 0.985201 0.001342686 FALSE 4.08443e-06 ENSE00001408097_031 ENSE00001408097 031 8 25209205 25209374 + 42 96 32 T A 25209350 367 146 GCGGCCGTGGGATCCAACAAAGAGTTACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCAGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351833 25351834 25351834 downstr_intron 8 1.258065 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTAACTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1249 341 0.9821025 1 0.9910513 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.09047097 0.002820784 0.8433947 0.9444054 NA 0.04664587 NA FALSE NA 0.001 -0.084 . splice_region_variant&intron_variant LOW DOCK5 HGNC 23476 ENST00000276440 27/51 1 NA ATC T,A 8.237e-06 8:25351834 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 splice_region_variant 0.847291 0.25203 0.08317 0.053691 0.7369721 0.101221 0.001342686 FALSE 4.09199e-06 ENSE00001408097_032 ENSE00001408097 032 8 25209205 25209374 + 42 96 32 C T 25209351 368 147 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATTTCTTTGTTGGATCCCACGGCCGC 25351688 25351858 25351834 25351835 25351835 downstr_intron 9 1.290323 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATTTCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1041 847 0.996357 0.9997232 0.9980401 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1047255 0.002543978 0.8433947 0.9444054 NA 0.05363472 NA FALSE NA 0 0.14 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 27/51 1 NA TCT C,T 8.237e-06 8:25351835 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 intron_variant 1.227983 0.33977 0.13621 0.053691 0.817328 0.101221 0.001342686 FALSE 4.09494e-06 ENSE00001408097_033 ENSE00001408097 033 8 25209205 25209374 + 42 96 32 T G 25209352 369 148 GCGGCCGTGGGATCCAACAAAGCGATACTCACGATGTGGGGAGACTGCCGGTTCATCCCAATCACTGTCCGGTTGATCCTTCTCAGCAGCCGTTCCATTATAAGCTGAATGTGCACCGCAGTGGCACCCTGCAGGGAACACAGGATTTGACTCCATTCCTTCTGACTCAG 25351688 25351858 25351835 25351836 25351836 downstr_intron 10 1.322581 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCGCTTTGTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 1307 398 1 0.9996166 0.9998083 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.1083684 0.002437385 0.8433947 0.9444054 NA 0.05540291 NA FALSE NA 0 -0.137 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 27/51 rs377306508 1 NA G:0 G:0.0002 CTC T,G 0.0003295 8:25351836 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 intron_variant 0.42816 0.22838 0.045 0.053691 0.5169494 0.101221 0.001342686 FALSE 0.000233457 ENSE00001408097_034 ENSE00001408097 034 8 25209205 25209374 + 42 96 32 G T 25209357 370 153 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTTTTGGATCCCACGGCCGC 25351688 25351858 25351840 25351841 25351841 downstr_intron 15 1.483871 CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTTTTGGATCCCACGGCCGC CTGAGTCAGAAGGAATGGAGTCAAATCCTGTGTTCCCTGCAGGGTGCCACTGCGGTGCACATTCAGCTTATAATGGAACGGCTGCTGAGAAGGATCAACCGGACAGTGATTGGGATGAACCGGCAGTCTCCCCACATCGTGAGTATCTCTTTGTTGGATCCCACGGCCGC mutant NA NA NA NA NA 141 2841 0.9692813 0.7865156 0.8778984 0.9411828 0.7456066 0.8916316 0.9971792 NA NA 0.07764973 -0.2106636 0.8433947 0.9444054 NA -0.06650695 NA FALSE NA 0 -0.473 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 27/51 1 NA TGT G,T 8.237e-06 8:25351841 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003589644 intron_variant -0.098639 0.22175 0.01471 0.053691 0.4252662 0.0901862 0.001342686 FALSE 4.11475e-06 ENSE00001409495_000 ENSE00001409495 000 X 107449700 107449869 - 48 63 59 NA NA NA NA NA TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 NA NA NA NA NA NA TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG natural NA NA NA NA NA 3577 3560 0.9378812 0.9861626 0.9620219 NA NA 0.9378812 0.9861626 NA NA 0 0 NA 0.9620219 NA 0 NA FALSE NA NA NA NA NA NA COL4A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A6 NA NA NA ENSG00000197565 ENSE00001409495 NA NA NA NA NA NA NA 0.9909883 TRUE NA ENSE00001409495_002 ENSE00001409495 002 X 107449700 107449869 - 48 63 59 G A 107449731 863 139 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGTCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 108206500 108206501 108206501 downstr_intron 17 1.361702 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGTCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG mutant NA NA NA NA NA 93 698 1 0.9949244 0.9974622 NA NA 0.9378812 0.9861626 NA NA 0.06211881 0.008761803 NA 0.9620219 NA 0.03544031 NA FALSE NA 0 -0.406 . intron_variant MODIFIER COL4A6 HGNC 2208 ENST00000394872 10/44 rs374934703 1 NA A:0.0003 A:0 GGC G,A 1.648e-05 X:108206501 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00001409495 intron_variant -0.049686 0.1007 0.00047 0 0.5119902 0.046323 0.9909883 TRUE 5.06472e-05 ENSE00001409495_003 ENSE00001409495 003 X 107449700 107449869 - 48 63 59 A G 107449741 864 129 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGACCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 108206510 108206511 108206511 downstr_intron 7 1.148936 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGACCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG mutant NA NA NA NA NA 456 1040 0.7408143 0.8649244 0.8028693 NA NA 0.9378812 0.9861626 NA NA -0.1970669 -0.1212382 NA 0.9620219 NA -0.1591525 NA FALSE NA 0.062 0.022 . splice_region_variant&intron_variant LOW COL4A6 HGNC 2208 ENST00000394872 10/44 1 NA GAT A,G 2.472e-05 X:108206511 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00001409495 splice_region_variant 0.252377 0.14008 0.00106 0 0.6588725 0.0758477 0.9909883 TRUE 1.12489e-05 ENSE00001409495_004 ENSE00001409495 004 X 107449700 107449869 - 48 63 59 T G 107449749 865 121 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACCAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 108206518 108206519 108206519 exon -2 0.984127 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACCAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG mutant NA NA NA NA NA 820 125 0.9411059 0.8534368 0.8972714 NA NA 0.9378812 0.9861626 NA NA 0.003224755 -0.1327258 NA 0.9620219 NA -0.0647505 NA FALSE NA 1 2.921 rs190006471 missense_variant&splice_region_variant MODERATE COL4A6 HGNC 2208 ENST00000394872 10/45 rs190006471 1 unknown(0) G:0 G:0 NA G:0 G:0.001 G:0 TTG T,G 8.239e-06 X:108206519 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00001409495 missense_variant 1.402153 0.98114 0.89203 0 0.9148664 0 0.9909883 TRUE 5.62322e-06 ENSE00001409495_006 ENSE00001409495 006 X 107449700 107449869 - 48 63 59 C T 107449782 867 88 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGAAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 108206551 108206552 108206552 exon 29 0.4603175 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGAAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG mutant NA NA NA NA NA 152 382 0.9924527 0.9980844 0.9952685 NA NA 0.9378812 0.9861626 NA NA 0.05457149 0.01192177 NA 0.9620219 NA 0.03324663 NA FALSE NA 0.998 4.621 . missense_variant MODERATE COL4A6 HGNC 2208 ENST00000394872 10/45 1 unknown(0) NA TCC C,T 1.648e-05 X:108206552 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00001409495 missense_variant 1.81553 0.975 0.96288 0 0.6044691 0 0.9909883 TRUE 5.62155e-06 ENSE00001409495_007 ENSE00001409495 007 X 107449700 107449869 - 48 63 59 G C 107449797 868 73 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGGACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 108206566 108206567 108206567 exon 14 0.2222222 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGGACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG mutant NA NA NA NA NA 539 2399 0.9962141 0.9996184 0.9979162 NA NA 0.9378812 0.9861626 NA NA 0.05833287 0.01345576 NA 0.9620219 NA 0.03589431 NA FALSE NA 0 -0.218 . missense_variant MODERATE COL4A6 HGNC 2208 ENST00000394872 10/45 1 unknown(0) NA TGC G,C 8.238e-06 X:108206567 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00001409495 missense_variant 0.33815 0.17935 0.09653 0 0.7987634 0 0.9909883 TRUE 5.62373e-06 ENSE00001409495_008 ENSE00001409495 008 X 107449700 107449869 - 48 63 59 T C 107449827 869 43 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAGAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 108206596 108206597 108206597 upstr_intron -17 -0.2711864 TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAGAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG mutant NA NA NA NA NA 1403 284 0.4472252 0.2878957 0.3675605 NA NA 0.9378812 0.9861626 NA NA -0.490656 -0.6982669 NA 0.9620219 NA -0.5944614 NA TRUE NA 0.935 1.056 . intron_variant MODIFIER COL4A6 HGNC 2208 ENST00000394872 9/44 rs372002848 1 NA C:0.0003 C:0 TTT T,C 1.648e-05 X:108206597 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00001409495 intron_variant 1.682363 0.7666 0.64536 0 0.8746428 0.0812817 0.9909883 TRUE 5.65742e-06 ENSE00001409495_010 ENSE00001409495 010 X 107449700 107449869 - 48 63 59 C T 107449844 871 26 TTCATTTTTCTTGGAAAACTGCCTTACTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 108206613 108206614 108206614 upstr_intron -34 -0.559322 TTCATTTTTCTTGGAAAACTGCCTTACTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG mutant NA NA NA NA NA 714 497 0.992223 0.9958067 0.9940149 NA NA 0.9378812 0.9861626 NA NA 0.05434185 0.009644099 NA 0.9620219 NA 0.03199297 NA FALSE NA 0 -0.42 . intron_variant MODIFIER COL4A6 HGNC 2208 ENST00000394872 9/44 1 NA GCA C,T 1.648e-05 X:108206614 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00001409495 intron_variant 1.117992 0.13873 0.02261 0 0.7417938 0.10283 0.9909883 TRUE 5.70939e-06 ENSE00001409495_011 ENSE00001409495 011 X 107449700 107449869 - 48 63 59 A T 107449850 872 20 TTCATTTTTCTTGGAAAACAGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG 108206469 108206639 108206619 108206620 108206620 upstr_intron -40 -0.6610169 TTCATTTTTCTTGGAAAACAGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG TTCATTTTTCTTGGAAAACTGCCTTGCTTTTTGAACTTGGTAAAAACTTGCCTCTCTAGGGCCCACAAGGAGCACCCGGATTTCCTGGAGCTGTAGGACCTGCAGGACCACCAGGATTACAAGTAAGATCAATTTAAGCCTAGTTTGTGATCACAGTGTTCACATGGTTG mutant NA NA NA NA NA 297 690 0.9782544 0.9756673 0.9769609 NA NA 0.9378812 0.9861626 NA NA 0.04037325 -0.01049531 NA 0.9620219 NA 0.01493897 NA FALSE NA 0.02 1.73 . intron_variant MODIFIER COL4A6 HGNC 2208 ENST00000394872 9/44 1 NA CAG A,T 2.473e-05 X:108206620 COL4A6 HGNC Symbol protein_coding 283890 ENSG00000197565 ENSE00001409495 intron_variant 0.018392 0.26542 0.14634 0 0.6719218 0.0455939 0.9909883 TRUE 1.14871e-05 ENSE00001411238_000 ENSE00001411238 000 9 20948799 20948968 + 51 78 41 NA NA NA NA NA TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 NA NA NA NA NA NA TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT natural 615 1211 0.8163034 0.8244888 0.8203961 2719 2869 0.907203 0.9330061 0.9201045 0.8163034 0.8244888 0.907203 0.9330061 0 0 0 0 0.8203961 0.9201045 0 0 0 FALSE FALSE NA NA NA NA NA FOCAD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOCAD NA NA NA ENSG00000188352 ENSE00001411238 NA NA NA NA NA NA NA 5.372981e-16 FALSE NA ENSE00001411238_001 ENSE00001411238 001 9 20948799 20948968 + 51 78 41 G C 20948809 209 11 TAAACCCAAGCACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948809 20948810 20948810 upstr_intron -41 -0.7843137 TAAACCCAAGCACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 435 565 0.9549834 0.9375215 0.9462525 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.04778042 0.00451541 0.8203961 0.9201045 NA 0.02614792 NA FALSE NA 0 0.251 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 33/45 rs373241596 1 NA C:0 C:0.0001 GGA G,C 1.647e-05 9:20948810 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant -0.19221 0.28406 0.18982 0.156188 0.3470783 0.0541553 5.372981e-16 FALSE 2.04915e-05 ENSE00001411238_002 ENSE00001411238 002 9 20948799 20948968 + 51 78 41 C T 20948821 210 23 TAAACCCAAGGACTGATTCCCTTTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948821 20948822 20948822 upstr_intron -29 -0.5490196 TAAACCCAAGGACTGATTCCCTTTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 336 1847 0.9273067 0.9145319 0.9209193 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.02010374 -0.0184742 0.8203961 0.9201045 NA 0.0008147693 NA FALSE NA 0 -0.296 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 33/45 rs376516766 1 NA T:0.0002 T:0.0002 TCT C,T 0.0001236 9:20948822 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.060261 0.20013 0.03237 0.156188 0.5913369 0.0594863 5.372981e-16 FALSE 0.000118316 ENSE00001411238_003 ENSE00001411238 003 9 20948799 20948968 + 51 78 41 T A 20948823 211 25 TAAACCCAAGGACTGATTCCCTCTATTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948823 20948824 20948824 upstr_intron -27 -0.5098039 TAAACCCAAGGACTGATTCCCTCTATTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 521 534 0.9541575 0.9545094 0.9543335 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.04695455 0.02150333 0.8203961 0.9201045 NA 0.03422894 NA FALSE NA 0.019 2.735 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 33/45 1 NA TTT T,A 8.237e-06 9:20948824 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.434791 0.34828 0.28688 0.156188 0.6685015 0.0765268 5.372981e-16 FALSE 4.07717e-06 ENSE00001411238_004 ENSE00001411238 004 9 20948799 20948968 + 51 78 41 A G 20948829 212 31 TAAACCCAAGGACTGATTCCCTCTTTTCATGTTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948829 20948830 20948830 upstr_intron -21 -0.3921569 TAAACCCAAGGACTGATTCCCTCTTTTCATGTTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 436 3282 0.9646985 0.9651879 0.9649432 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.05749546 0.0321818 0.8203961 0.9201045 NA 0.04483863 NA FALSE NA 0 -1.214 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 33/45 rs370584221 1 NA G:0 G:0.0001 TAT A,G 8.237e-06 9:20948830 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant -0.053339 0.18044 0.02036 0.295142 0.3531404 0.0765268 5.372981e-16 FALSE NA ENSE00001411238_005 ENSE00001411238 005 9 20948799 20948968 + 51 78 41 C G 20948832 213 34 TAAACCCAAGGACTGATTCCCTCTTTTCATATTGTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948832 20948833 20948833 upstr_intron -18 -0.3333333 TAAACCCAAGGACTGATTCCCTCTTTTCATATTGTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 45 324 0.95 0.9773242 0.9636621 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.042797 0.04431811 0.8203961 0.9201045 NA 0.04355756 NA FALSE NA 0 0.002 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 33/45 1 NA TCT C,G 3.295e-05 9:20948833 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.0403 0.23413 0.05086 0.295142 0.5962782 0.154197 5.372981e-16 FALSE 2.03629e-05 ENSE00001411238_006 ENSE00001411238 006 9 20948799 20948968 + 51 78 41 T C 20948833 214 35 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCCGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948833 20948834 20948834 upstr_intron -17 -0.3137255 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCCGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 755 425 0.8478621 0.7264475 0.7871548 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.05934086 -0.2065586 0.8203961 0.9201045 NA -0.1329497 NA FALSE NA 0 0.181 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 33/45 1 NA CTG T,C 8.237e-06 9:20948834 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.008131 0.21559 0.04737 0.295142 0.7293133 0.103748 5.372981e-16 FALSE 4.07196e-06 ENSE00001411238_007 ENSE00001411238 007 9 20948799 20948968 + 51 78 41 A G 20948835 215 37 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGGTGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948835 20948836 20948836 upstr_intron -15 -0.2745098 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGGTGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 1310 662 0.01488559 0.01321548 0.01405053 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.8923174 -0.9197906 0.8203961 0.9201045 NA -0.906054 NA TRUE NA 0 -0.047 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 33/45 1 NA GAT A,G 8.237e-06 9:20948836 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.383577 0.24699 0.04366 0.295142 0.7847318 0.304077 5.372981e-16 FALSE 4.0711e-06 ENSE00001411238_009 ENSE00001411238 009 9 20948799 20948968 + 51 78 41 C T 20948854 217 56 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCATTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948854 20948855 20948855 exon 5 0.06410256 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCATTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 577 771 0.8 0.8170849 0.8085424 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.107203 -0.1159212 0.8203961 0.9201045 NA -0.1115621 NA FALSE NA 0.987 3.84 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 34/46 1 benign(0.112) NA ACT C,T 8.236e-06 9:20948855 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 missense_variant 3.550373 0.97706 0.84988 0.741868 0.9922489 0 5.372981e-16 FALSE 4.06795e-06 ENSE00001411238_010 ENSE00001411238 010 9 20948799 20948968 + 51 78 41 C A 20948856 218 58 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTACCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948856 20948857 20948857 exon 7 0.08974359 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTACCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 733 761 0.940841 0.9644344 0.9526377 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.03363796 0.03142831 0.8203961 0.9201045 NA 0.03253314 NA FALSE NA 1 1.589 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 34/46 rs544335294 1 probably_damaging(0.917) A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 TCC C,A 3.295e-05 9:20948857 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 missense_variant 5.907553 0.9779 0.85466 0.741868 0.9960133 0 5.372981e-16 FALSE 2.03391e-05 ENSE00001411238_012 ENSE00001411238 012 9 20948799 20948968 + 51 78 41 C G 20948860 220 62 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCAGAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948860 20948861 20948861 exon 11 0.1410256 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCAGAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 599 626 0.843403 0.9929491 0.918176 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.06379998 0.05994298 0.8203961 0.9201045 NA -0.001928503 NA FALSE NA 1 5.517 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 34/46 rs564629674 1 probably_damaging(0.999) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 ACA C,G 8.236e-06 9:20948861 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 missense_variant 6.695769 0.9894 0.95363 0.741868 0.9949844 0 5.372981e-16 FALSE 4.06788e-06 ENSE00001411238_013 ENSE00001411238 013 9 20948799 20948968 + 51 78 41 A G 20948862 221 64 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAGTGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948862 20948863 20948863 exon 13 0.1666667 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAGTGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 473 668 0.8018523 0.8029731 0.8024127 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.1053507 -0.130033 0.8203961 0.9201045 NA -0.1176918 NA FALSE NA 1 3.792 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 34/46 1 benign(0.009) NA AAT A,G 0.0001483 9:20948863 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 missense_variant 3.701184 0.98676 0.92043 0.741868 0.9850237 0 5.372981e-16 FALSE 0.00012202 ENSE00001411238_014 ENSE00001411238 014 9 20948799 20948968 + 51 78 41 G T 20948869 222 71 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTTTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948869 20948870 20948870 exon 20 0.2564103 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTTTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 1376 380 0.009102352 0.1044427 0.05677251 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.8981006 -0.8285634 0.8203961 0.9201045 NA -0.863332 NA TRUE NA 1 6.91 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 34/46 1 possibly_damaging(0.663) NA TGT G,T 4.118e-05 9:20948870 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 missense_variant 6.800312 0.98939 0.9659 0.741868 0.989203 0 5.372981e-16 FALSE 2.84671e-05 ENSE00001411238_016 ENSE00001411238 016 9 20948799 20948968 + 51 78 41 A G 20948889 224 91 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCGTGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948889 20948890 20948890 exon -39 0.5128205 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCGTGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 716 333 0.9796349 1 0.9898174 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.0724319 0.06699392 0.8203961 0.9201045 NA 0.06971291 NA FALSE NA 1 1.831 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 34/46 1 benign(0.054) NA CAT A,G 7.413e-05 9:20948890 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 missense_variant 3.267285 0.97506 0.72918 0.741868 0.9715529 0 5.372981e-16 FALSE 8.94665e-05 ENSE00001411238_018 ENSE00001411238 018 9 20948799 20948968 + 51 78 41 G A 20948913 226 115 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAAGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948913 20948914 20948914 exon -15 0.8205128 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAAGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 342 205 0.6043569 0.5279862 0.5661715 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.3028461 -0.4050199 0.8203961 0.9201045 NA -0.353933 NA FALSE NA 1 3.623 rs142840404 missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 34/46 rs142840404 1 benign(0.301) NA A:0.0018 A:0 AGG G,A 8.236e-05 9:20948914 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 missense_variant 3.793707 0.98089 0.8499 0.741868 0.9860036 0 5.372981e-16 FALSE 8.54395e-05 ENSE00001411238_019 ENSE00001411238 019 9 20948799 20948968 + 51 78 41 A G 20948917 227 119 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGGTGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948917 20948918 20948918 exon -11 0.8717949 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGGTGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 1015 269 0.0102875 0.00136155 0.005824524 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.8969155 -0.9316445 0.8203961 0.9201045 NA -0.91428 NA TRUE NA 0 0.177 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 34/46 1 benign(0.001) NA GAT A,G 8.236e-06 9:20948918 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 missense_variant 0.385476 0.22564 0.03535 0.741868 0.7539526 0 5.372981e-16 FALSE 4.06841e-06 ENSE00001411238_020 ENSE00001411238 020 9 20948799 20948968 + 51 78 41 T A 20948929 228 131 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGAAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948929 20948930 20948930 downstr_intron 2 1.05 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGAAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 1284 632 0.006627902 0 0.003313951 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.9005751 -0.9330061 0.8203961 0.9201045 NA -0.9167906 NA TRUE NA 1 5.671 . splice_donor_variant HIGH FOCAD HGNC 23377 ENST00000380249 34/45 1 NA HC GTA T,A 2.471e-05 9:20948930 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 splice_donor_variant 5.396004 0.98667 0.94237 0.156188 0.9945128 0.983487 5.372981e-16 FALSE 1.22113e-05 ENSE00001411238_021 ENSE00001411238 021 9 20948799 20948968 + 51 78 41 A T 20948931 229 133 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTATAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948931 20948932 20948932 downstr_intron 4 1.1 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTATAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 996 3717 0.0004913141 0.007779035 0.004135175 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.9067117 -0.925227 0.8203961 0.9201045 NA -0.9159694 NA TRUE NA 1 6.501 . splice_region_variant&intron_variant LOW FOCAD HGNC 23377 ENST00000380249 34/45 1 NA AAA A,T 1.647e-05 9:20948932 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 splice_region_variant 1.776883 0.9867 0.95839 0.114469 0.9675918 0.983252 5.372981e-16 FALSE 4.07087e-06 ENSE00001411238_022 ENSE00001411238 022 9 20948799 20948968 + 51 78 41 A C 20948935 230 137 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGACAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948935 20948936 20948936 downstr_intron 8 1.2 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGACAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 488 540 0.8005346 0.8051299 0.8028322 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.1066684 -0.1278762 0.8203961 0.9201045 NA -0.1172723 NA FALSE NA 0 -0.216 . splice_region_variant&intron_variant LOW FOCAD HGNC 23377 ENST00000380249 34/45 1 NA AAA A,C 8.236e-06 9:20948936 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 splice_region_variant -0.286678 0.17941 0.02868 0.062308 0.6327836 0.228722 5.372981e-16 FALSE 4.07199e-06 ENSE00001411238_023 ENSE00001411238 023 9 20948799 20948968 + 51 78 41 C T 20948941 231 143 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAATCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 20948941 20948942 20948942 downstr_intron 14 1.35 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAATCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 954 1287 0.9418076 0.9358614 0.9388345 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.03460459 0.002855283 0.8203961 0.9201045 NA 0.01872994 NA FALSE NA 0 -0.262 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 34/45 1 NA ACC C,T 3.295e-05 9:20948942 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant -0.058701 0.20121 0.00418 0.099367 0.346979 0.0775441 5.372981e-16 FALSE 1.22256e-05 ENSE00001411238_024 ENSE00001411238 024 9 20948799 20948968 + 51 78 41 G A 20948951 232 153 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGAAAGACATCTAAATATGT 20948799 20948969 20948951 20948952 20948952 downstr_intron 24 1.6 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGAAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 1719 1422 0.805282 0.8092068 0.8072444 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.101921 -0.1237993 0.8203961 0.9201045 NA -0.1128601 NA FALSE NA 0 0.142 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 34/45 1 NA GGA G,A 2.471e-05 9:20948952 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.245436 0.2038 0.03883 0.099367 0.5754613 0.0603551 5.372981e-16 FALSE 1.63337e-05 ENSE00001411238_025 ENSE00001411238 025 9 20948799 20948968 + 51 78 41 A T 20948953 233 155 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGATGACATCTAAATATGT 20948799 20948969 20948953 20948954 20948954 downstr_intron 26 1.65 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGATGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 681 348 0.8990086 0.959464 0.9292363 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.008194441 0.02645792 0.8203961 0.9201045 NA 0.009131741 NA FALSE NA 0 0.057 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 34/45 1 NA AAG A,T 8.237e-06 9:20948954 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.211745 0.17305 0.05673 0.099367 0.7391864 0.061232 5.372981e-16 FALSE 4.08457e-06 ENSE00001411238_027 ENSE00001411238 027 9 20948799 20948968 + 51 78 41 A G 20948955 235 157 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGGCATCTAAATATGT 20948799 20948969 20948955 20948956 20948956 downstr_intron 28 1.7 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGGCATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 1384 989 0.9534547 0.9440295 0.9487421 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.04625166 0.01102338 0.8203961 0.9201045 NA 0.02863752 NA FALSE NA 0.003 0.413 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 34/45 1 NA GAC A,G 8.237e-06 9:20948956 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.253573 0.20271 0.01212 0.099367 0.6788598 0.123357 5.372981e-16 FALSE 8.17227e-06 ENSE00001411238_028 ENSE00001411238 028 9 20948799 20948968 + 51 78 41 C T 20948956 236 158 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGATATCTAAATATGT 20948799 20948969 20948956 20948957 20948957 downstr_intron 29 1.725 TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGATATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT mutant NA NA NA NA NA 931 333 0.9410416 0.9518016 0.9464216 0.8163034 0.8244888 0.907203 0.9330061 NA NA 0.03383857 0.01879557 0.8203961 0.9201045 NA 0.02631707 NA FALSE NA 0.001 -0.239 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 34/45 1 NA ACA C,T 2.471e-05 9:20948957 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00001411238 intron_variant 0.211415 0.22392 0.01496 0.099367 0.6057941 0.0785695 5.372981e-16 FALSE 2.45345e-05 ENSE00001411238_BRK ENSE00001411238 BRK 9 20948799 20948968 + 51 78 41 A,G; T,T NA NA NA TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCTTGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGCCAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT 20948799 20948969 NA NA NA NA NA NA TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCTTGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGCCAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT TAAACCCAAGGACTGATTCCCTCTTTTCATATTCTGATGCTTTGTTTTCAGGGCACTCCCACAATGCTTTGTCTGGCAGCTCTTCATGGCATGGTGGCCTTGGTAGGCTCTGAAGGGGATGTAATGCAGGTAAAGAAAGGAACCATGGAGGGGAAGACATCTAAATATGT control NA NA NA NA NA 1392 113 0.0230253 0.01194174 0.01748352 0.8163034 0.8244888 0.907203 0.9330061 NA NA -0.8841777 -0.9210643 0.8203961 0.9201045 NA -0.902621 NA TRUE NA NA NA NA NA NA FOCAD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOCAD NA NA NA ENSG00000188352 ENSE00001411238 NA NA NA NA NA NA NA 5.372981e-16 FALSE NA ENSE00001411271_000 ENSE00001411271 000 1 32145593 32145762 - 50 60 60 NA NA NA NA NA TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 NA NA NA NA NA NA TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT natural 87 74 0.9937605 0.9863305 0.9900455 584 1704 0.988505 0.9481315 0.9683182 0.9937605 0.9863305 0.988505 0.9481315 0 0 0 0 0.9900455 0.9683182 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00001411271 NA NA NA NA NA NA NA 3.384735e-15 FALSE NA ENSE00001411271_001 ENSE00001411271 001 1 32145593 32145762 - 50 60 60 T C 32145605 1070 158 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGGGAGGACCAGCTT 31679991 31680161 31680003 31680004 31680004 downstr_intron 38 1.77551 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGGGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 195 60 0.9939368 1 0.9969684 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.0054318 0.05186854 0.9900455 0.9683182 NA 0.02865017 NA FALSE NA 0 -0.123 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:31680004 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 intron_variant -0.400219 0.4436 0.0765 0.070351 0.5704765 0.096449 3.384735e-15 FALSE NA ENSE00001411271_002 ENSE00001411271 002 1 32145593 32145762 - 50 60 60 T A 32145605 1071 158 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGTGAGGACCAGCTT 31679991 31680161 31680003 31680004 31680004 downstr_intron 38 1.77551 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGTGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 245 653 0.9796777 0.9972733 0.9884755 0.9937605 0.9863305 0.988505 0.9481315 NA NA -0.008827232 0.04914179 0.9900455 0.9683182 NA 0.02015728 NA FALSE NA 0 -0.123 NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00001411271 intron_variant -0.072178 0.43697 0.07204 0.070351 0.6883027 0.096449 3.384735e-15 FALSE NA ENSE00001411271_003 ENSE00001411271 003 1 32145593 32145762 - 50 60 60 C T 32145609 1072 154 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGAGGGAGAGGACCAGCTT 31679991 31680161 31680007 31680008 31680008 downstr_intron 34 1.693878 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGAGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 536 6885 0.9996155 0.9670573 0.9833364 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.0111105 0.01892588 0.9900455 0.9683182 NA 0.01501819 NA FALSE NA 0 0.078 . intron_variant MODIFIER COL16A1 HGNC 2193 ENST00000373672 40/70 1 NA CCC C,T 8.262e-06 1:31680008 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 intron_variant 0.2823 0.8664 0.13763 0.070351 0.5564079 0.101622 3.384735e-15 FALSE NA ENSE00001411271_006 ENSE00001411271 006 1 32145593 32145762 - 50 60 60 T C 32145613 1075 150 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAGCTGGGGGAGAGGACCAGCTT 31679991 31680161 31680011 31680012 31680012 downstr_intron 30 1.612245 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAGCTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 24 108 1 1 1 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.01149503 0.05186854 0.9900455 0.9683182 NA 0.03168178 NA FALSE NA 0 -0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:31680012 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 intron_variant -0.668704 0.12468 0.01034 0.070351 0.4940879 0.0880999 3.384735e-15 FALSE 1.2334e-05 ENSE00001411271_007 ENSE00001411271 007 1 32145593 32145762 - 50 60 60 T G 32145613 1076 150 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCACCTGGGGGAGAGGACCAGCTT 31679991 31680161 31680011 31680012 31680012 downstr_intron 30 1.612245 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCACCTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 26 976 1 0.9521319 0.9760659 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.01149503 0.004000421 0.9900455 0.9683182 NA 0.007747724 NA FALSE NA 0 -0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00001411271 intron_variant -0.462294 0.12704 0.03827 0.070351 0.5938034 0.0880999 3.384735e-15 FALSE 1.2334e-05 ENSE00001411271_008 ENSE00001411271 008 1 32145593 32145762 - 50 60 60 G T 32145615 1077 148 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCAAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680013 31680014 31680014 downstr_intron 28 1.571429 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCAAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 174 708 0.9961532 1 0.9980766 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.007648234 0.05186854 0.9900455 0.9683182 NA 0.02975838 NA FALSE NA 0.989 1.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:31680014 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 intron_variant -0.257317 0.23328 0.30441 0.070351 0.6697316 0.0491854 3.384735e-15 FALSE NA ENSE00001411271_009 ENSE00001411271 009 1 32145593 32145762 - 50 60 60 G A 32145615 1078 148 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCTAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680013 31680014 31680014 downstr_intron 28 1.571429 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCTAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant 22 14 0.9982202 1 0.9991101 125 674 1 0.8854648 0.9427324 0.9937605 0.9863305 0.988505 0.9481315 0.00445964 0.01366945 0.01149503 -0.06266669 0.9900455 0.9683182 0.009064546 -0.02558583 0.03465038 FALSE FALSE 0.989 1.32 NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00001411271 intron_variant 0.005585 0.23075 0.33976 0.070351 0.6310869 0.0491854 3.384735e-15 FALSE 4.10968e-06 ENSE00001411271_010 ENSE00001411271 010 1 32145593 32145762 - 50 60 60 C T 32145633 1079 130 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCACTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680031 31680032 31680032 downstr_intron 10 1.204082 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCACTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant 14 20 1 0.9927816 0.9963908 100 206 0.9633139 0.9954393 0.9793766 0.9937605 0.9863305 0.988505 0.9481315 0.00623947 0.00645108 -0.02519109 0.04730783 0.9900455 0.9683182 0.006345275 0.01105837 0.004713096 FALSE FALSE 0 -0.779 . intron_variant MODIFIER COL16A1 HGNC 2193 ENST00000373672 40/70 1 NA GCG C,T 4.131e-05 1:31680032 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 intron_variant 0.227146 0.24405 0.05107 0.070351 0.7282354 0.175888 3.384735e-15 FALSE 3.26525e-05 ENSE00001411271_013 ENSE00001411271 013 1 32145593 32145762 - 50 60 60 C T 32145638 1082 125 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAATGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680036 31680037 31680037 downstr_intron 5 1.102041 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAATGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant 75 165 0 0 0 1600 661 0.005496025 0.00125028 0.003373152 0.9937605 0.9863305 0.988505 0.9481315 -0.9937605 -0.9863305 -0.9830089 -0.9468812 0.9900455 0.9683182 -0.9900455 -0.9649451 0.02510047 TRUE TRUE 0.992 3.93 . splice_region_variant&intron_variant LOW COL16A1 HGNC 2193 ENST00000373672 40/70 1 NA ACT C,T 8.26e-06 1:31680037 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 splice_region_variant 1.736446 0.94316 0.80333 0.070351 0.9524042 0.978225 3.384735e-15 FALSE 4.07591e-06 ENSE00001411271_014 ENSE00001411271 014 1 32145593 32145762 - 50 60 60 C T 32145643 1083 120 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCAGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680041 31680042 31680042 exon -1 1 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCAGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 99 40 0 0 0 0.9937605 0.9863305 0.988505 0.9481315 NA NA -0.988505 -0.9481315 0.9900455 0.9683182 NA -0.9683182 NA TRUE NA 1 3.93 . splice_region_variant&synonymous_variant LOW COL16A1 HGNC 2193 ENST00000373672 40/71 1 NA CCG C,T 3.304e-05 1:31680042 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 splice_region_variant 1.77184 0.94352 0.80359 0.696267 0.9408601 0 3.384735e-15 FALSE 3.66955e-05 ENSE00001411271_015 ENSE00001411271 015 1 32145593 32145762 - 50 60 60 G A 32145644 1084 119 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCTGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680042 31680043 31680043 exon -2 0.9833333 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCTGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 84 577 0.9918879 0.944109 0.9679985 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.00338292 -0.004022445 0.9900455 0.9683182 NA -0.0003197626 NA FALSE NA 1 4.975 . missense_variant&splice_region_variant MODERATE COL16A1 HGNC 2193 ENST00000373672 40/71 1 unknown(0) NA CGG G,A 5.782e-05 1:31680043 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 missense_variant 3.190812 0.94454 0.84114 0.696267 0.9890979 0 3.384735e-15 FALSE 3.66781e-05 ENSE00001411271_018 ENSE00001411271 018 1 32145593 32145762 - 50 60 60 T C 32145660 1087 103 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCGTCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680058 31680059 31680059 exon -18 0.7166667 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCGTCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 3255 584 0.9693049 0.9997291 0.984517 0.9937605 0.9863305 0.988505 0.9481315 NA NA -0.01920004 0.05159763 0.9900455 0.9683182 NA 0.0161988 NA FALSE NA 0 -1.161 . missense_variant MODERATE COL16A1 HGNC 2193 ENST00000373672 40/71 1 unknown(0) NA ATG C,C 9.089e-05 1:31680059 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 missense_variant -1.508275 0.17409 0.02966 0.696267 0.488925 0 3.384735e-15 FALSE 6.51583e-05 ENSE00001411271_019 ENSE00001411271 019 1 32145593 32145762 - 50 60 60 G A 32145664 1088 99 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGATCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680062 31680063 31680063 exon -22 0.65 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGATCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant 18 40 0.85 0.85 0.85 207 1759 0.9691508 0.9634857 0.9663182 0.9937605 0.9863305 0.988505 0.9481315 -0.1437605 -0.1363305 -0.01935416 0.01535423 0.9900455 0.9683182 -0.1400455 -0.001999969 0.1380456 FALSE FALSE 0.95 0.424 . synonymous_variant LOW COL16A1 HGNC 2193 ENST00000373672 40/71 1 NA GGT G,A 8.263e-06 1:31680063 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 synonymous_variant -0.186905 0.18005 0.26616 0.696267 0.5823937 0 3.384735e-15 FALSE 4.07229e-06 ENSE00001411271_021 ENSE00001411271 021 1 32145593 32145762 - 50 60 60 C A 32145680 1090 83 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTTCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680078 31680079 31680079 exon 23 0.3833333 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTTCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 83 797 0.9789095 0.9663379 0.9726237 0.9937605 0.9863305 0.988505 0.9481315 NA NA -0.009595466 0.01820643 0.9900455 0.9683182 NA 0.004305484 NA FALSE NA 1 3.919 . missense_variant MODERATE COL16A1 HGNC 2193 ENST00000373672 40/71 rs377432629 1 unknown(0) NA A:0.0002 A:0 GCA C,A 1.653e-05 1:31680079 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 missense_variant 3.088768 0.94441 0.87187 0.696267 0.9352617 0 3.384735e-15 FALSE 4.07611e-06 ENSE00001411271_023 ENSE00001411271 023 1 32145593 32145762 - 50 60 60 T C 32145689 1092 74 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGGGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680087 31680088 31680088 exon 14 0.2333333 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGGGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 192 89 0.8 0.8 0.8 0.9937605 0.9863305 0.988505 0.9481315 NA NA -0.188505 -0.1481315 0.9900455 0.9683182 NA -0.1683182 NA FALSE NA 1 4.021 . missense_variant MODERATE COL16A1 HGNC 2193 ENST00000373672 40/71 1 unknown(0) NA CTC T,C 8.267e-06 1:31680088 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 missense_variant 2.606883 0.93653 0.85775 0.696267 0.9958399 0 3.384735e-15 FALSE 2.85766e-05 ENSE00001411271_026 ENSE00001411271 026 1 32145593 32145762 - 50 60 60 C G 32145718 1095 45 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGCCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680116 31680117 31680117 upstr_intron -16 -0.25 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGCCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 135 48 1 0.809045 0.9045225 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.01149503 -0.1390865 0.9900455 0.9683182 NA -0.06379574 NA FALSE NA 0.005 0.08 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:31680117 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 intron_variant 1.375901 0.79805 0.15035 0.074388 0.7974688 0.2777 3.384735e-15 FALSE 4.15742e-06 ENSE00001411271_027 ENSE00001411271 027 1 32145593 32145762 - 50 60 60 C A 32145718 1096 45 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGTCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680116 31680117 31680117 upstr_intron -16 -0.25 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGTCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 931 713 0.9958508 0.9846145 0.9902326 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.007345781 0.03648299 0.9900455 0.9683182 NA 0.02191439 NA FALSE NA 0.005 0.08 NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00001411271 intron_variant 1.772146 0.79097 0.13703 0.074388 0.81131 0.2777 3.384735e-15 FALSE 4.15742e-06 ENSE00001411271_028 ENSE00001411271 028 1 32145593 32145762 - 50 60 60 A G 32145730 1097 33 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCACGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680128 31680129 31680129 upstr_intron -28 -0.45 TCCATTTCAAGAGAGCCCTTCGTCTTCATCCACGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 86 865 1 0.9228274 0.9614137 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.01149503 -0.02530404 0.9900455 0.9683182 NA -0.006904506 NA FALSE NA 0 -0.085 . intron_variant MODIFIER COL16A1 HGNC 2193 ENST00000373672 39/70 1 NA CAT A,G 2.481e-05 1:31680129 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 intron_variant -0.245034 0.17585 0.00266 0.074388 0.5026637 0.0811055 3.384735e-15 FALSE 2.55022e-05 ENSE00001411271_031 ENSE00001411271 031 1 32145593 32145762 - 50 60 60 G C 32145746 1100 17 TCCATTTCAAGAGAGCGCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 31680144 31680145 31680145 upstr_intron -44 -0.7166667 TCCATTTCAAGAGAGCGCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT mutant NA NA NA NA NA 167 527 1 0.8551715 0.9275858 0.9937605 0.9863305 0.988505 0.9481315 NA NA 0.01149503 -0.09295992 0.9900455 0.9683182 NA -0.04073244 NA FALSE NA 0 -0.291 . intron_variant MODIFIER COL16A1 HGNC 2193 ENST00000373672 39/70 1 NA GGG G,C 8.278e-06 1:31680145 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00001411271 intron_variant -0.208519 0.2023 0.06831 0.074388 0.6189404 0.0471117 3.384735e-15 FALSE 4.66061e-06 ENSE00001411271_BRK ENSE00001411271 BRK 1 32145593 32145762 - 50 60 60 A,G; T,T NA NA NA TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCTTGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGCCAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT 31679991 31680161 NA NA NA NA NA NA TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCTTGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGCCAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT TCCATTTCAAGAGAGCCCTTCGTCTTCATCCATGTCTCACAAAGGCTCTTGTATTTTCAGGGTGAGCCAGGGGAGTGCTCCTGCCCCTCTCAAGGAGACCTCATCTTCTCTGGCATGCCGGTAAGTGGCGCTGTGAGAGCCTTCCCCCAACTGGGGGAGAGGACCAGCTT control 93 49 0 0 0 NA NA NA NA NA 0.9937605 0.9863305 0.988505 0.9481315 -0.9937605 -0.9863305 NA NA 0.9900455 0.9683182 -0.9900455 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00001411271 NA NA NA NA NA NA NA NA NA NA ENSE00001411309_000 ENSE00001411309 000 7 94050258 94050427 + 63 54 53 NA NA NA NA NA GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 NA NA NA NA NA NA GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG natural 134 283 0.9868109 0.9041954 0.9455031 1918 4274 0.9249291 0.9598252 0.9423772 0.9868109 0.9041954 0.9249291 0.9598252 0 0 0 0 0.9455031 0.9423772 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003547422 NA NA NA NA NA NA NA 0.9997549 TRUE NA ENSE00001411309_001 ENSE00001411309 001 7 94050258 94050427 + 63 54 53 T C 94050271 1869 14 GAAAAGAGTAGCACTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94420958 94420959 94420959 upstr_intron -50 -0.7777778 GAAAAGAGTAGCACTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 584 561 0.9801642 0.9999321 0.9900482 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.05523503 0.0401069 0.9455031 0.9423772 NA 0.04767097 NA FALSE NA 0 0.224 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA ATT T,C 8.236e-06 7:94420959 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.477116 0.26006 0.17493 0.088506 0.6901346 0.0666035 0.9997549 TRUE 8.12546e-06 ENSE00001411309_002 ENSE00001411309 002 7 94050258 94050427 + 63 54 53 T G 94050292 1870 35 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGAGTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94420979 94420980 94420980 upstr_intron -29 -0.4444444 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGAGTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 837 556 0.9995566 0.9932632 0.9964099 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.0746275 0.03343799 0.9455031 0.9423772 NA 0.05403275 NA FALSE NA 0.067 0.734 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA ATT T,G 8.236e-06 7:94420980 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.396243 0.22416 0.29962 0.088506 0.4374333 0.156438 0.9997549 TRUE 4.06157e-06 ENSE00001411309_003 ENSE00001411309 003 7 94050258 94050427 + 63 54 53 C T 94050297 1871 40 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGATTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94420984 94420985 94420985 upstr_intron -24 -0.3650794 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGATTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 1996 587 0.9946965 0.9988244 0.9967605 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.06976737 0.03899917 0.9455031 0.9423772 NA 0.05438327 NA FALSE NA 0 -0.318 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA ACT C,T 8.236e-06 7:94420985 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.295856 0.25734 0.05269 0.088506 0.5260931 0.156438 0.9997549 TRUE 4.06147e-06 ENSE00001411309_004 ENSE00001411309 004 7 94050258 94050427 + 63 54 53 T G 94050298 1872 41 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACGCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94420985 94420986 94420986 upstr_intron -23 -0.3492063 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACGCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 639 287 0.9702861 0.9457329 0.9580095 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.04535691 -0.01409234 0.9455031 0.9423772 NA 0.01563229 NA FALSE NA 0 -0.961 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA CTC T,G 8.236e-06 7:94420986 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.448988 0.28615 0.17204 0.088506 0.4302295 0.155319 0.9997549 TRUE 4.06124e-06 ENSE00001411309_005 ENSE00001411309 005 7 94050258 94050427 + 63 54 53 C T 94050299 1873 42 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTTCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94420986 94420987 94420987 upstr_intron -22 -0.3333333 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTTCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 580 544 0.9964812 0.8485758 0.9225285 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.07155205 -0.1112495 0.9455031 0.9423772 NA -0.0198487 NA FALSE NA 0 -0.894 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs371672096 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 7:94420987 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.495739 0.24542 0.12971 0.088506 0.4256109 0.155319 0.9997549 TRUE 4.06138e-06 ENSE00001411309_006 ENSE00001411309 006 7 94050258 94050427 + 63 54 53 C A 94050333 1874 76 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTACCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421020 94421021 94421021 exon 13 0.2407407 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTACCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 1652 519 0.8420426 0.9992633 0.920653 0.9868109 0.9041954 0.9249291 0.9598252 NA NA -0.08288653 0.03943811 0.9455031 0.9423772 NA -0.02172421 NA FALSE NA 0 0.429 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TCC C,A 8.236e-06 7:94421021 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 missense_variant 2.822539 0.65603 0.38162 0.706548 0.9955216 0 0.9997549 TRUE 4.0625e-06 ENSE00001411309_008 ENSE00001411309 008 7 94050258 94050427 + 63 54 53 C G 94050338 1876 81 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCGGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421025 94421026 94421026 exon 18 0.3333333 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCGGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 740 1523 0.9946826 0.991621 0.9931518 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.06975344 0.03179579 0.9455031 0.9423772 NA 0.05077462 NA FALSE NA 0.222 1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94421026 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 synonymous_variant 1.824439 0.9241 0.82224 0.706548 0.666839 0 0.9997549 TRUE 1.62468e-05 ENSE00001411309_009 ENSE00001411309 009 7 94050258 94050427 + 63 54 53 C T 94050338 1877 81 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCTGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421025 94421026 94421026 exon 18 0.3333333 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCTGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 1404 1601 0.9614391 0.995802 0.9786206 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.03650999 0.03597676 0.9455031 0.9423772 NA 0.03624337 NA FALSE NA 0.222 1 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003547422 synonymous_variant 2.178834 0.84796 0.0978 0.706548 0.6985213 0 0.9997549 TRUE 0.000101543 ENSE00001411309_011 ENSE00001411309 011 7 94050258 94050427 + 63 54 53 C G 94050343 1879 86 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCGTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421030 94421031 94421031 exon 23 0.4259259 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCGTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 1382 1231 0.9249085 0.9974559 0.9611822 0.9868109 0.9041954 0.9249291 0.9598252 NA NA -2.069251e-05 0.03763064 0.9455031 0.9423772 NA 0.01880498 NA FALSE NA 0.09 3.165 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs575478348 1 NA CCT C,G 8.236e-06 7:94421031 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 missense_variant 3.457938 0.98126 0.91882 0.706548 0.9980806 0 0.9997549 TRUE 4.06144e-06 ENSE00001411309_012 ENSE00001411309 012 7 94050258 94050427 + 63 54 53 C T 94050354 1880 97 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTTGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421041 94421042 94421042 exon -21 0.6296296 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTTGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 625 1128 1 0.9879118 0.9939559 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.07507086 0.02808655 0.9455031 0.9423772 NA 0.0515787 NA FALSE NA 1 4.717 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TCG C,T 8.236e-06 7:94421042 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 missense_variant 6.37869 0.96143 0.97179 0.706548 0.9994107 0 0.9997549 TRUE 4.06157e-06 ENSE00001411309_013 ENSE00001411309 013 7 94050258 94050427 + 63 54 53 G A 94050355 1881 98 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCATGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421042 94421043 94421043 exon -20 0.6481481 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCATGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 999 1967 0.9502821 0.99962 0.9749511 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.02535296 0.03979481 0.9455031 0.9423772 NA 0.03257389 NA FALSE NA 1 6.333 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA CGT G,A 1.647e-05 7:94421043 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 missense_variant 6.093412 0.9689 0.97563 0.706548 0.9995089 0 0.9997549 TRUE 2.43702e-05 ENSE00001411309_014 ENSE00001411309 014 7 94050258 94050427 + 63 54 53 T C 94050362 1882 105 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGACGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421049 94421050 94421050 exon -13 0.7777778 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGACGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 440 2942 0.9925353 0.9977543 0.9951448 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.06760616 0.03792906 0.9455031 0.9423772 NA 0.05276761 NA FALSE NA 0.073 0.229 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA ATG T,C 8.236e-06 7:94421050 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 synonymous_variant 0.364735 0.92773 0.40152 0.706548 0.5797533 0 0.9997549 TRUE 4.06147e-06 ENSE00001411309_015 ENSE00001411309 015 7 94050258 94050427 + 63 54 53 C T 94050368 1883 111 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGTCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421055 94421056 94421056 exon -7 0.8888889 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGTCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 1419 602 0.989645 0.9911913 0.9904181 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.06471582 0.03136608 0.9455031 0.9423772 NA 0.04804095 NA FALSE NA 0 -2.94 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA GCC C,T 8.236e-06 7:94421056 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 synonymous_variant 1.676726 0.77894 0.07241 0.706548 0.7533408 0 0.9997549 TRUE NA ENSE00001411309_016 ENSE00001411309 016 7 94050258 94050427 + 63 54 53 C T 94050372 1884 115 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCTCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421059 94421060 94421060 exon -3 0.962963 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCTCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 273 465 1 1 1 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.07507086 0.04017477 0.9455031 0.9423772 NA 0.05762281 NA FALSE NA 0.942 1.933 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs372702749 1 NA T:0 T:0.0001 CCC C,T 8.236e-06 7:94421060 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 missense_variant 3.65873 0.94227 0.92185 0.706548 0.9991108 0 0.9997549 TRUE 4.0622e-06 ENSE00001411309_017 ENSE00001411309 017 7 94050258 94050427 + 63 54 53 A C 94050381 1885 124 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTCTTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421068 94421069 94421069 downstr_intron 7 1.134615 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTCTTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 551 477 0.7925895 0.6547734 0.7236814 0.9868109 0.9041954 0.9249291 0.9598252 NA NA -0.1323397 -0.3050518 0.9455031 0.9423772 NA -0.2186957 NA FALSE NA 0.076 0.343 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TAT A,C 8.236e-06 7:94421069 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 splice_region_variant 1.400499 0.89907 0.24957 0.099367 0.8582556 0.880593 0.9997549 TRUE 4.06312e-06 ENSE00001411309_018 ENSE00001411309 018 7 94050258 94050427 + 63 54 53 A G 94050388 1886 131 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAGTGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421075 94421076 94421076 downstr_intron 14 1.269231 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAGTGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 666 899 0.9946455 0.9997816 0.9972136 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.06971637 0.0399564 0.9455031 0.9423772 NA 0.05483639 NA FALSE NA 0 -0.062 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA AAT A,G 8.236e-06 7:94421076 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.305723 0.22068 0.03846 0.099367 0.5134926 0.170311 0.9997549 TRUE 4.06276e-06 ENSE00001411309_019 ENSE00001411309 019 7 94050258 94050427 + 63 54 53 G C 94050390 1887 133 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATCGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421077 94421078 94421078 downstr_intron 16 1.307692 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATCGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 246 1078 0.8467857 0.9962037 0.9214947 0.9868109 0.9041954 0.9249291 0.9598252 NA NA -0.07814346 0.03637848 0.9455031 0.9423772 NA -0.02088249 NA FALSE NA 0 -0.009 rs112603291 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs112603291 1 C:0.0048 C:0.0182 C:0 NA C:0 C:0 C:0 C:0.0082 C:0 TGG G,C 0.001038 7:94421078 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.178791 0.29849 0.06934 0.099367 0.5188112 0.170311 0.9997549 TRUE 0.000946823 ENSE00001411309_020 ENSE00001411309 020 7 94050258 94050427 + 63 54 53 C T 94050397 1888 140 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTTGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421084 94421085 94421085 downstr_intron 23 1.442308 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTTGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 3921 58 0.9978905 0.9972634 0.9975769 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.07296132 0.03743814 0.9455031 0.9423772 NA 0.05519973 NA FALSE NA 0 -1.479 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TCG C,T 8.236e-05 7:94421085 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.110206 0.20013 0.03216 0.099367 0.8269553 0.129132 0.9997549 TRUE 8.53548e-05 ENSE00001411309_021 ENSE00001411309 021 7 94050258 94050427 + 63 54 53 G A 94050398 1889 141 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCACCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421085 94421086 94421086 downstr_intron 24 1.461538 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCACCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 407 414 0.9923824 0.998118 0.9952502 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.06745323 0.03829272 0.9455031 0.9423772 NA 0.05287298 NA FALSE NA 0 0.007 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA CGC G,A 3.295e-05 7:94421086 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.068402 0.1832 0.0118 0.099367 0.794442 0.129132 0.9997549 TRUE 1.21954e-05 ENSE00001411309_022 ENSE00001411309 022 7 94050258 94050427 + 63 54 53 G A 94050401 1890 144 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCACTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421088 94421089 94421089 downstr_intron 27 1.519231 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCACTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 1008 120 0.9192732 0.8792501 0.8992617 0.9868109 0.9041954 0.9249291 0.9598252 NA NA -0.005655933 -0.08057511 0.9455031 0.9423772 NA -0.04311552 NA FALSE NA 0 0.768 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs201611266 1 A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 CGC G,A 7.413e-05 7:94421089 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant -0.024709 0.14138 0.0047 0.099367 0.7980974 0.129132 0.9997549 TRUE 6.91136e-05 ENSE00001411309_023 ENSE00001411309 023 7 94050258 94050427 + 63 54 53 C A 94050402 1891 145 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGATTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421089 94421090 94421090 downstr_intron 28 1.538462 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGATTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 627 419 0.996145 0.9814374 0.9887912 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.07121588 0.02161221 0.9455031 0.9423772 NA 0.04641404 NA FALSE NA 0 -0.732 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94421090 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.378381 0.2329 0.13662 0.099367 0.7397601 0.129132 0.9997549 TRUE 8.13054e-06 ENSE00001411309_024 ENSE00001411309 024 7 94050258 94050427 + 63 54 53 C T 94050402 1892 145 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGTTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 94421089 94421090 94421090 downstr_intron 28 1.538462 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGTTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 468 164 1 1 1 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.07507086 0.04017477 0.9455031 0.9423772 NA 0.05762281 NA FALSE NA 0 -0.732 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.30812 0.20051 0.06257 0.099367 0.7659858 0.129132 0.9997549 TRUE 1.21958e-05 ENSE00001411309_025 ENSE00001411309 025 7 94050258 94050427 + 63 54 53 C G 94050414 1893 157 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTGAGAATCTATTAAG 94420945 94421115 94421101 94421102 94421102 downstr_intron 40 1.769231 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTGAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 624 402 0.8180432 0.9999053 0.9089742 0.9868109 0.9041954 0.9249291 0.9598252 NA NA -0.106886 0.04008004 0.9455031 0.9423772 NA -0.03340297 NA FALSE NA 0 -0.848 rs112935840 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs112935840 1 G:0.0046 G:0.0174 G:0 NA G:0 G:0 G:0 G:0.0082 G:0 TCA C,G 0.00103 7:94421102 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant 0.199846 0.27702 0.12961 0.099367 0.6068008 0.129132 0.9997549 TRUE 0.000944479 ENSE00001411309_026 ENSE00001411309 026 7 94050258 94050427 + 63 54 53 G C 94050416 1894 159 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCACAATCTATTAAG 94420945 94421115 94421103 94421104 94421104 downstr_intron 42 1.807692 GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCACAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG mutant NA NA NA NA NA 2574 1715 0.9974281 0.9947766 0.9961024 0.9868109 0.9041954 0.9249291 0.9598252 NA NA 0.07249898 0.03495138 0.9455031 0.9423772 NA 0.05372518 NA FALSE NA 0 0.144 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA AGA G,C 8.236e-06 7:94421104 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003547422 non_coding_transcript_exon_variant -0.203062 0.23032 0.0443 0.099367 0.5802715 0.129132 0.9997549 TRUE 4.07159e-06 ENSE00001411309_BRK ENSE00001411309 BRK 7 94050258 94050427 + 63 54 53 A,G; T,T NA NA NA GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTTTGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTCCGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG 94420945 94421115 NA NA NA NA NA NA GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTTTGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTCCGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG GAAAAGAGTAGCATTTACAAGGGTTTGTTTGTGATTTGACTCCATCTTTTTGTTTGCATTTAGGGTCCAAATGGTCCCCCCGGTCCTGCTGGAAGTCGTGGTGATGGAGGCCCCCCTGTGAGTATTTACAATGGACTCTCGCCGCTTTTCTTTTTTCAGAATCTATTAAG control 306 129 0 0.08842419 0.04421209 147 46 0 0 0 0.9868109 0.9041954 0.9249291 0.9598252 -0.9868109 -0.8157712 -0.9249291 -0.9598252 0.9455031 0.9423772 -0.9012911 -0.9423772 0.04108614 TRUE TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003547422 NA NA NA NA NA NA NA 0.9997549 TRUE NA ENSE00001411662_000 ENSE00001411662 000 X 15822187 15822356 + 47 87 36 NA NA NA NA NA AACTCATCACACAGCACATCCCATGACAGGAATCACCTCTTTTTCTTTCTTCTCCTGTCGTTTCTGCTCCTCCTCTTCTCTCTCTTTCCTCTGCTGTTCTTCCCATTGTTCCTTTAACTTTCTCTTTAAAGGGGAAGAAAAAGTAACTTTGTTTCAGTCACTTTTTAAAA 15804063 15804233 NA NA NA NA NA NA TTTTAAAAAGTGACTGAAACAAAGTTACTTTTTCTTCCCCTTTAAAGAGAAAGTTAAAGGAACAATGGGAAGAACAGCAGAGGAAAGAGAGAGAAGAGGAGGAGCAGAAACGACAGGAGAAGAAAGAAAAAGAGGTGATTCCTGTCATGGGATGTGCTGTGTGATGAGTT TTTTAAAAAGTGACTGAAACAAAGTTACTTTTTCTTCCCCTTTAAAGAGAAAGTTAAAGGAACAATGGGAAGAACAGCAGAGGAAAGAGAGAGAAGAGGAGGAGCAGAAACGACAGGAGAAGAAAGAAAAAGAGGTGATTCCTGTCATGGGATGTGCTGTGTGATGAGTT natural NA NA NA NA NA 2403 1575 0.938653 0.9930635 0.9658582 NA NA 0.938653 0.9930635 NA NA 0 0 NA 0.9658582 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001411662 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001413149_000 ENSE00001413149 000 3 194134449 194134618 - 39 81 50 NA NA NA NA NA ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 NA NA NA NA NA NA ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT natural NA NA NA NA NA 2326 788 0.9584525 0.7899669 0.8742097 NA NA 0.9584525 0.7899669 NA NA 0 0 NA 0.8742097 NA 0 NA FALSE NA NA NA NA NA NA ATP13A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP13A3 NA NA NA ENSG00000133657 ENSE00001413149 NA NA NA NA NA NA NA 0.9999674 TRUE NA ENSE00001413149_002 ENSE00001413149 002 3 194134449 194134618 - 39 81 50 T C 194134475 4198 144 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCGTAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413745 194413746 194413746 downstr_intron 13 1.342105 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCGTAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 293 68 0.9981596 0.9976671 0.9979134 NA NA 0.9584525 0.7899669 NA NA 0.03970713 0.2077002 NA 0.8742097 NA 0.1237037 NA FALSE NA 0 0.105 . upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 1 NA ATG T,C 1.654e-05 3:194413746 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 intron_variant -0.045562 0.21953 0.03118 0.295142 0.4210373 0.0623117 0.9999674 TRUE 1.21907e-05 ENSE00001413149_003 ENSE00001413149 003 3 194134449 194134618 - 39 81 50 G A 194134476 4199 143 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCTATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413746 194413747 194413747 downstr_intron 12 1.315789 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCTATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 109 821 1 0.8713611 0.9356805 NA NA 0.9584525 0.7899669 NA NA 0.04154749 0.08139418 NA 0.8742097 NA 0.06147083 NA FALSE NA 0 -0.057 . upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 1 NA TGG G,A 8.271e-06 3:194413747 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 intron_variant -0.008643 0.27616 0.03208 0.295142 0.2325045 0.0616458 0.9999674 TRUE 8.12731e-06 ENSE00001413149_004 ENSE00001413149 004 3 194134449 194134618 - 39 81 50 G C 194134480 4200 139 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCAGTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413750 194413751 194413751 downstr_intron 8 1.210526 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCAGTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 213 18 0.8940828 0.8 0.8470414 NA NA 0.9584525 0.7899669 NA NA -0.06436975 0.01003311 NA 0.8742097 NA -0.02716832 NA FALSE NA 0.023 0.329 . upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 1 NA AGT G,C 8.27e-06 3:194413751 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 splice_region_variant -0.07022 0.26251 0.25073 0.295142 0.3355215 0.0522734 0.9999674 TRUE 4.06342e-06 ENSE00001413149_005 ENSE00001413149 005 3 194134449 194134618 - 39 81 50 T C 194134499 4201 120 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTGTCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413769 194413770 194413770 exon -12 0.8641975 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTGTCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 17 979 1 0.9998444 0.9999222 NA NA 0.9584525 0.7899669 NA NA 0.04154749 0.2098775 NA 0.8742097 NA 0.1257125 NA FALSE NA 0.288 -0.525 . upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 rs201472338 1 NA ATA T,C 8.27e-05 3:194413770 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 missense_variant -0.591645 0.58128 0.07714 0.706548 0.7093131 0 0.9999674 TRUE 5.68856e-05 ENSE00001413149_013 ENSE00001413149 013 3 194134449 194134618 - 39 81 50 T G 194134554 4209 65 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCCTATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413824 194413825 194413825 exon 15 0.1851852 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCCTATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 1344 313 0.9510192 0.9302548 0.940637 NA NA 0.9584525 0.7899669 NA NA -0.007433276 0.1402879 NA 0.8742097 NA 0.0664273 NA FALSE NA 0 -2.72 NA NA NA ATP13A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:194413825 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 synonymous_variant 0.962236 0.19666 0.06424 0.706548 0.6290489 0 0.9999674 TRUE 3.25137e-05 ENSE00001413149_014 ENSE00001413149 014 3 194134449 194134618 - 39 81 50 C T 194134563 4210 56 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTATGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413833 194413834 194413834 exon 6 0.07407407 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTATGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 120 26 0.7846379 0.8 0.7923189 NA NA 0.9584525 0.7899669 NA NA -0.1738147 0.01003311 NA 0.8742097 NA -0.08189077 NA FALSE NA 0.443 -0.581 . upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 1 NA ACA C,T 1.655e-05 3:194413834 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 synonymous_variant 2.113478 0.9562 0.33513 0.706548 0.6756629 0 0.9999674 TRUE 1.62584e-05 ENSE00001413149_016 ENSE00001413149 016 3 194134449 194134618 - 39 81 50 A G 194134567 4212 52 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGACAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413837 194413838 194413838 exon 2 0.02469136 ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGACAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 76 900 0.8 0.8 0.8 NA NA 0.9584525 0.7899669 NA NA -0.1584525 0.01003311 NA 0.8742097 NA -0.0742097 NA FALSE NA 1 7.396 rs142320589 upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 rs142320589 1 G:0.0010 G:0 G:0 NA G:0.005 G:0 G:0 G:0 G:0.0001 TAT A,G 0.000331 3:194413838 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 missense_variant 4.727228 0.99177 0.98936 0.706548 0.9945257 0 0.9999674 TRUE 0.000304905 ENSE00001413149_017 ENSE00001413149 017 3 194134449 194134618 - 39 81 50 C T 194134583 4213 36 ATATTGACTACATACAACAATTTTAACTTTAAAATATTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413853 194413854 194413854 upstr_intron -15 -0.28 ATATTGACTACATACAACAATTTTAACTTTAAAATATTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 423 77 0.6293656 0.8 0.7146828 NA NA 0.9584525 0.7899669 NA NA -0.3290869 0.01003311 NA 0.8742097 NA -0.1595269 NA FALSE NA 0 -0.466 . upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 1 NA ACA C,T 8.277e-06 3:194413854 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 intron_variant 0.25386 0.37167 0.01918 0.099367 0.466218 0.05195 0.9999674 TRUE 8.13935e-06 ENSE00001413149_018 ENSE00001413149 018 3 194134449 194134618 - 39 81 50 G T 194134592 4214 27 ATATTGACTACATACAACAATTTTAAATTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413862 194413863 194413863 upstr_intron -24 -0.46 ATATTGACTACATACAACAATTTTAAATTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 151 23 0 0 0 NA NA 0.9584525 0.7899669 NA NA -0.9584525 -0.7899669 NA 0.8742097 NA -0.8742097 NA TRUE NA 0.891 0.412 . upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 1 NA AGT G,T 8.277e-06 3:194413863 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 intron_variant 0.118169 0.46843 0.63006 0.099367 0.6709196 0.0447566 0.9999674 TRUE 4.07525e-06 ENSE00001413149_021 ENSE00001413149 021 3 194134449 194134618 - 39 81 50 G A 194134608 4217 11 ATATTGACTATATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT 194413719 194413889 194413878 194413879 194413879 upstr_intron -40 -0.78 ATATTGACTATATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT ATATTGACTACATACAACAATTTTAACTTTAAAATGTTTTTGCATTACAGATAGTGTGTGTACCATATCAGTGGCGTGTAACTATGCTCATCATTGTTCTTGTCAATGCCTTTGTGTCTATCACAGTGGAGGTAAGCACTTCCATAGTCAAATGGCTACCATGTTGCTTT mutant NA NA NA NA NA 34 51 0.9759612 1 0.9879806 NA NA 0.9584525 0.7899669 NA NA 0.01750873 0.2100331 NA 0.8742097 NA 0.1137709 NA FALSE NA 0 -0.796 . upstream_gene_variant MODIFIER ATP13A3 HGNC 24113 ENST00000461660 1 NA TGT G,A 8.277e-06 3:194413879 ATP13A3 HGNC Symbol protein_coding 95692 ENSG00000133657 ENSE00001413149 intron_variant 0.047467 0.16924 0.04541 0.106106 0.4098704 0.0447566 0.9999674 TRUE 4.08831e-06 ENSE00001413552_000 ENSE00001413552 000 5 176083017 176083186 + 62 57 51 NA NA NA NA NA TCTCATACCCAACCCAGTACCCCTGCCTGCCTGCCCCAGCCCGGTTCCTACCCCTCTCACCAGTTTGAGCCGGACGTCGTAGCCACACTGGGTGTTGAGGACATCCTCCTGAGGGGAGACAGGCCAGTTAGTGACTTGGTGAGGACGCATCCCATGGGGTCCATGGTACC 176656015 176656185 NA NA NA NA NA NA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA natural NA NA NA NA NA 316 87 0.9400679 0.9032772 0.9216726 NA NA 0.9400679 0.9032772 NA NA 0 0 NA 0.9216726 NA 0 NA FALSE NA NA NA NA NA NA TSPAN17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN17 NA NA NA ENSG00000048140 ENSE00001413552 NA NA NA NA NA NA NA 1.319776e-05 FALSE NA ENSE00001413552_001 ENSE00001413552 001 5 176083017 176083186 + 62 57 51 C T 176083028 2379 12 TCTCATACCCAACCCAGTACCCCTGCCTGCCTGCCCCAGCCCGGTTCCTACCCCTCTCACCAGTTTGAGCCGGACGTCGTAGCCACACTGGGTGTTGAGGACATCCTCCTGAGGGGAGACAGGCCAGTTAGTGACTTGGTGAGGACGCATCCCATGGGATCCATGGTACC 176656015 176656185 176656026 176656027 176656027 upstr_intron -51 -0.8064516 GGTACCATGGATCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA mutant NA NA NA NA NA 354 144 0.9513269 0.981077 0.9662019 NA NA 0.9400679 0.9032772 NA NA 0.01125894 0.07779979 NA 0.9216726 NA 0.04452936 NA FALSE NA 0 -0.929 rs78677496 intron_variant&NMD_transcript_variant MODIFIER TSPAN17 HGNC 13594 ENST00000503030 4/7 rs78677496 1 T:0.0677 T:0.2126 T:0.0375 NA T:0 T:0.0219 T:0.0102 T:0.1532 T:0.0176 ACC C,T 0.029 5:176656027 TSPAN17 HGNC Symbol protein_coding 11667 ENSG00000048140 ENSE00001413552 intron_variant 1.510159 0.36567 0.07313 0.163922 0.9016909 0.0492226 1.319776e-05 FALSE 0.0265059 ENSE00001413552_005 ENSE00001413552 005 5 176083017 176083186 + 62 57 51 C T 176083054 2383 38 TCTCATACCCAACCCAGTACCCCTGCCTGCCTGCCCCAGCCCGGTTCCTACCCCTCTCACCAGTTTGAGCCGGACGTCGTAGCCACACTGGGTGTTGAGGACATCCTCCTGAGGGGAGACAGGCCAGTTAGTAACTTGGTGAGGACGCATCCCATGGGGTCCATGGTACC 176656015 176656185 176656052 176656053 176656053 upstr_intron -25 -0.3870968 GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTTACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA mutant NA NA NA NA NA 18 499 0.95 0.9757872 0.9628936 NA NA 0.9400679 0.9032772 NA NA 0.009932086 0.07251003 NA 0.9216726 NA 0.04122106 NA FALSE NA 0 -0.719 . intron_variant&NMD_transcript_variant MODIFIER TSPAN17 HGNC 13594 ENST00000503030 4/7 1 NA TCA C,T 1.647e-05 5:176656053 TSPAN17 HGNC Symbol protein_coding 11667 ENSG00000048140 ENSE00001413552 intron_variant 0.443673 0.12857 0.00794 0.163922 0.8579501 0.0834894 1.319776e-05 FALSE 8.12282e-06 ENSE00001413552_025 ENSE00001413552 025 5 176083017 176083186 + 62 57 51 G A 176083139 2403 123 TCTCATACCCAACCCAGTACCCCTGCCTGCCTGCCCCAGCCCGGTTCTTACCCCTCTCACCAGTTTGAGCCGGACGTCGTAGCCACACTGGGTGTTGAGGACATCCTCCTGAGGGGAGACAGGCCAGTTAGTGACTTGGTGAGGACGCATCCCATGGGGTCCATGGTACC 176656015 176656185 176656137 176656138 176656138 downstr_intron 4 1.08 GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAAGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA mutant NA NA NA NA NA 277 36 1 0.9955812 0.9977906 NA NA 0.9400679 0.9032772 NA NA 0.05993209 0.092304 NA 0.9216726 NA 0.07611804 NA FALSE NA 0 0.872 . intron_variant&NMD_transcript_variant MODIFIER TSPAN17 HGNC 13594 ENST00000503030 5/7 1 NA AGG G,A 8.236e-06 5:176656138 TSPAN17 HGNC Symbol protein_coding 11667 ENSG00000048140 ENSE00001413552 splice_region_variant 0.187572 0.18666 0.02034 0.088506 0.4325882 0.0911565 1.319776e-05 FALSE 1.21984e-05 ENSE00001413552_032 ENSE00001413552 032 5 176083017 176083186 + 62 57 51 G A 176083156 2410 140 TCTCATACCCAACCCAGTACCCCTGCCTGCTTGCCCCAGCCCGGTTCCTACCCCTCTCACCAGTTTGAGCCGGACGTCGTAGCCACACTGGGTGTTGAGGACATCCTCCTGAGGGGAGACAGGCCAGTTAGTGACTTGGTGAGGACGCATCCCATGGGGTCCATGGTACC 176656015 176656185 176656154 176656155 176656155 downstr_intron 21 1.42 GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAAGCAGGCAGGGGTACTGGGTTGGGTATGAGA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA mutant NA NA NA NA NA 103 35 0.9855728 0.9672246 0.9763987 NA NA 0.9400679 0.9032772 NA NA 0.04550489 0.06394734 NA 0.9216726 NA 0.05472611 NA FALSE NA 0.68 0.434 . intron_variant&NMD_transcript_variant MODIFIER TSPAN17 HGNC 13594 ENST00000503030 5/7 1 NA AGG G,A 8.236e-06 5:176656155 TSPAN17 HGNC Symbol protein_coding 11667 ENSG00000048140 ENSE00001413552 intron_variant 0.51509 0.19266 0.1236 0.088506 0.8491044 0.0485778 1.319776e-05 FALSE 4.08093e-06 ENSE00001413552_033 ENSE00001413552 033 5 176083017 176083186 + 62 57 51 G A 176083164 2411 148 TCTCATACCCAACCCAGTACCCTTGCCTGCCTGCCCCAGCCCGGTTCCTACCCCTCTCACCAGTTTGAGCCGGACGTCGTAGCCACACTGGGTGTTGAGGACATCCTCCTGAGGGGAGACAGGCCAGTTAGTGACTTGGTGAGGACGCATCCCATGGGGTCCATGGTACC 176656015 176656185 176656162 176656163 176656163 downstr_intron 29 1.58 GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAAGGGTACTGGGTTGGGTATGAGA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA mutant NA NA NA NA NA 36 245 0.9867067 0.9326894 0.959698 NA NA 0.9400679 0.9032772 NA NA 0.0466388 0.02941214 NA 0.9216726 NA 0.03802547 NA FALSE NA 0.002 -0.24 . intron_variant&NMD_transcript_variant MODIFIER TSPAN17 HGNC 13594 ENST00000503030 5/7 1 NA AGG G,A 8.237e-06 5:176656163 TSPAN17 HGNC Symbol protein_coding 11667 ENSG00000048140 ENSE00001413552 intron_variant 0.072499 0.16101 0.02514 0.088506 0.4708654 0.0478249 1.319776e-05 FALSE NA ENSE00001413552_034 ENSE00001413552 034 5 176083017 176083186 + 62 57 51 G C 176083165 2412 149 TCTCATACCCAACCCAGTACCGCTGCCTGCCTGCCCCAGCCCGGTTCCTACCCCTCTCACCAGTTTGAGCCGGACGTCGTAGCCACACTGGGTGTTGAGGACATCCTCCTGAGGGGAGACAGGCCAGTTAGTGACTTGGTGAGGACGCATCCCATGGGGTCCATGGTACC 176656015 176656185 176656163 176656164 176656164 downstr_intron 30 1.6 GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGCGGTACTGGGTTGGGTATGAGA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA mutant NA NA NA NA NA 262 35 0.9284545 0.95 0.9392272 NA NA 0.9400679 0.9032772 NA NA -0.01161344 0.04672278 NA 0.9216726 NA 0.01755467 NA FALSE NA 0.015 0.58 . intron_variant&NMD_transcript_variant MODIFIER TSPAN17 HGNC 13594 ENST00000503030 5/7 1 NA GGG G,C 8.237e-06 5:176656164 TSPAN17 HGNC Symbol protein_coding 11667 ENSG00000048140 ENSE00001413552 intron_variant -0.301225 0.16492 0.08812 0.088506 0.3223543 0.0478249 1.319776e-05 FALSE NA ENSE00001413552_035 ENSE00001413552 035 5 176083017 176083186 + 62 57 51 G A 176083167 2413 151 TCTCATACCCAACCCAGTATCCCTGCCTGCCTGCCCCAGCCCGGTTCCTACCCCTCTCACCAGTTTGAGCCGGACGTCGTAGCCACACTGGGTGTTGAGGACATCCTCCTGAGGGGAGACAGGCCAGTTAGTGACTTGGTGAGGACGCATCCCATGGGGTCCATGGTACC 176656015 176656185 176656165 176656166 176656166 downstr_intron 32 1.64 GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGATACTGGGTTGGGTATGAGA GGTACCATGGACCCCATGGGATGCGTCCTCACCAAGTCACTAACTGGCCTGTCTCCCCTCAGGAGGATGTCCTCAACACCCAGTGTGGCTACGACGTCCGGCTCAAACTGGTGAGAGGGGTAGGAACCGGGCTGGGGCAGGCAGGCAGGGGTACTGGGTTGGGTATGAGA mutant NA NA NA NA NA 16 219 0.9644126 0.8575439 0.9109782 NA NA 0.9400679 0.9032772 NA NA 0.02434465 -0.04573331 NA 0.9216726 NA -0.01069433 NA FALSE NA 0 -0.497 . intron_variant&NMD_transcript_variant MODIFIER TSPAN17 HGNC 13594 ENST00000503030 5/7 1 NA GGT G,A 6.589e-05 5:176656166 TSPAN17 HGNC Symbol protein_coding 11667 ENSG00000048140 ENSE00001413552 intron_variant 0.214983 0.15847 0.03818 0.088506 0.7514309 0.0478249 1.319776e-05 FALSE 3.6937e-05 ENSE00001414840_000 ENSE00001414840 000 8 139635922 139636091 - 53 54 63 NA NA NA NA NA TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 NA NA NA NA NA NA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA natural NA NA NA NA NA 1527 2778 0.933496 0.9285172 0.9310066 NA NA 0.933496 0.9285172 NA NA 0 0 NA 0.9310066 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003544573 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001414840_001 ENSE00001414840 001 8 139635922 139636091 - 53 54 63 A G 139635933 2320 159 TGACATGTAATGGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623689 138623690 138623690 downstr_intron 42 1.807692 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCCATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 86 530 1 0.9982578 0.9991289 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.06974066 NA 0.9310066 NA 0.0681223 NA FALSE NA 0 -0.785 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138623690 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.196043 0.08618 0.00096 0.061011 0.2314564 0.0436289 8.258326e-32 FALSE 4.54153e-06 ENSE00001414840_002 ENSE00001414840 002 8 139635922 139636091 - 53 54 63 A T 139635933 2321 159 TGACATGTAATTGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623689 138623690 138623690 downstr_intron 42 1.807692 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCAATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 36 484 1 0.9819332 0.9909666 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.05341604 NA 0.9310066 NA 0.05995999 NA FALSE NA 0 -0.785 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003544573 intron_variant -0.27469 0.09623 0.00251 0.061011 0.4998272 0.0436289 8.258326e-32 FALSE 4.54153e-06 ENSE00001414840_003 ENSE00001414840 003 8 139635922 139636091 - 53 54 63 T C 139635937 2322 155 TGACATGTAATAGATCTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623693 138623694 138623694 downstr_intron 38 1.730769 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAGATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 103 426 1 1 1 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.07148282 NA 0.9310066 NA 0.06899339 NA FALSE NA 0 -0.578 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 52/64 1 NA TTT T,C 8.237e-06 8:138623694 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant 0.111309 0.13441 0.03458 0.061011 0.2839773 0.0436289 8.258326e-32 FALSE 8.89925e-06 ENSE00001414840_004 ENSE00001414840 004 8 139635922 139636091 - 53 54 63 T C 139635938 2323 154 TGACATGTAATAGATTCGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623694 138623695 138623695 downstr_intron 37 1.711538 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCGAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 555 243 1 1 1 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.07148282 NA 0.9310066 NA 0.06899339 NA FALSE NA 0.001 -0.058 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 52/64 rs201365372 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 TTG T,C 0.0002224 8:138623695 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant 0.147426 0.20631 0.09264 0.061011 0.3165374 0.0436289 8.258326e-32 FALSE 0.000204463 ENSE00001414840_005 ENSE00001414840 005 8 139635922 139636091 - 53 54 63 G A 139635940 2324 152 TGACATGTAATAGATTTGACATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623696 138623697 138623697 downstr_intron 35 1.673077 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGTCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 718 88 0.9941859 1 0.9970929 NA NA 0.933496 0.9285172 NA NA 0.06068983 0.07148282 NA 0.9310066 NA 0.06608633 NA FALSE NA 0 0.161 rs143912495 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 52/64 rs143912495 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGC G,A 8.237e-06 8:138623697 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant 0.011632 0.12405 0.03978 0.061011 0.5563865 0.0436289 8.258326e-32 FALSE 4.43262e-06 ENSE00001414840_006 ENSE00001414840 006 8 139635922 139636091 - 53 54 63 T C 139635948 2325 144 TGACATGTAATAGATTTGGCATGTGACATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623704 138623705 138623705 downstr_intron 27 1.519231 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATGTCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 41 1691 1 0.9997521 0.999876 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.07123487 NA 0.9310066 NA 0.06886941 NA FALSE NA 0 -0.053 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 52/64 1 NA ATA T,C 8.237e-06 8:138623705 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.051207 0.20615 0.01871 0.061011 0.3041845 0.0436289 8.258326e-32 FALSE 4.31675e-06 ENSE00001414840_007 ENSE00001414840 007 8 139635922 139636091 - 53 54 63 T C 139635953 2326 139 TGACATGTAATAGATTTGGCATGTGATATAACAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623709 138623710 138623710 downstr_intron 22 1.423077 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTGTTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 98 282 0.9856184 1 0.9928092 NA NA 0.933496 0.9285172 NA NA 0.05212231 0.07148282 NA 0.9310066 NA 0.06180256 NA FALSE NA 0 -1.149 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 52/64 1 NA ATA T,C 2.471e-05 8:138623710 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.043788 0.14508 0.02157 0.061011 0.3187789 0.0414318 8.258326e-32 FALSE 1.71255e-05 ENSE00001414840_008 ENSE00001414840 008 8 139635922 139636091 - 53 54 63 G A 139635955 2327 137 TGACATGTAATAGATTTGGCATGTGATATAATAAGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623711 138623712 138623712 downstr_intron 20 1.384615 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCTTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 785 461 0.6699363 0.7912698 0.7306031 NA NA 0.933496 0.9285172 NA NA -0.2635598 -0.1372473 NA 0.9310066 NA -0.2004036 NA FALSE NA 0 0.038 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 52/64 rs372427540 1 NA A:0.0002 A:0 AGG G,A 8.236e-06 8:138623712 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.11067 0.09508 0.00185 0.061011 0.4184591 0.0733029 8.258326e-32 FALSE NA ENSE00001414840_009 ENSE00001414840 009 8 139635922 139636091 - 53 54 63 G A 139635959 2328 133 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAATTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623715 138623716 138623716 downstr_intron 16 1.307692 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAATTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 146 511 1 0.9680655 0.9840328 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.03954832 NA 0.9310066 NA 0.05302614 NA FALSE NA 0 -1.019 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 52/64 rs374169776 1 NA A:0 A:0.0001 AGT G,A 1.647e-05 8:138623716 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.130466 0.14225 0.0039 0.061011 0.4552608 0.0414318 8.258326e-32 FALSE 8.38631e-06 ENSE00001414840_010 ENSE00001414840 010 8 139635922 139636091 - 53 54 63 G C 139635966 2329 126 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGACTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623722 138623723 138623723 downstr_intron 9 1.173077 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGAGTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 96 1142 1 0.9972542 0.9986271 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.06873701 NA 0.9310066 NA 0.06762048 NA FALSE NA 0 -0.427 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 52/64 rs549014136 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 AGT G,C 3.295e-05 8:138623723 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.085822 0.17401 0.03665 0.061011 0.5231958 0.0482692 8.258326e-32 FALSE 2.06305e-05 ENSE00001414840_011 ENSE00001414840 011 8 139635922 139636091 - 53 54 63 T G 139635967 2330 125 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGGCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623723 138623724 138623724 downstr_intron 8 1.153846 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGCCTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 32 127 0.95 0.9027094 0.9263547 NA NA 0.933496 0.9285172 NA NA 0.01650395 -0.0258078 NA 0.9310066 NA -0.004651925 NA FALSE NA 0 -3.884 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 52/64 rs200044192 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0023 G:0 GTC T,G 0.0002141 8:138623724 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 splice_region_variant -0.255247 0.06744 0.01121 0.061011 0.5569698 0.174225 8.258326e-32 FALSE 0.00016503 ENSE00001414840_013 ENSE00001414840 013 8 139635922 139636091 - 53 54 63 G A 139635976 2332 116 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCAGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623732 138623733 138623733 exon -2 0.9814815 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCTGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 1728 38 0.9141946 0.9958151 0.9550048 NA NA 0.933496 0.9285172 NA NA -0.01930147 0.06729789 NA 0.9310066 NA 0.02399821 NA FALSE NA 1 2.119 . missense_variant&splice_region_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 52/65 rs367820652 1 unknown(0) NA A:0.0002 A:0.0001 CGG G,A 4.942e-05 8:138623733 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 missense_variant 3.320461 0.98128 0.81498 0.638212 0.9959479 0 8.258326e-32 FALSE 4.52035e-05 ENSE00001414840_014 ENSE00001414840 014 8 139635922 139636091 - 53 54 63 C G 139635978 2333 114 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGGTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623734 138623735 138623735 exon -4 0.9444444 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGACCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 378 206 0.980486 0.9887245 0.9846052 NA NA 0.933496 0.9285172 NA NA 0.04698992 0.06020734 NA 0.9310066 NA 0.05359863 NA FALSE NA 0.519 -1.035 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 52/65 rs547614169 1 unknown(0) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GCT C,G 1.647e-05 8:138623735 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 missense_variant 1.433866 0.94544 0.19611 0.638212 0.9084152 0 8.258326e-32 FALSE 8.21099e-06 ENSE00001414840_015 ENSE00001414840 015 8 139635922 139636091 - 53 54 63 C T 139635992 2334 100 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACTCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623748 138623749 138623749 exon -18 0.6851852 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGAGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 1371 1938 0.9321688 0.9980118 0.9650903 NA NA 0.933496 0.9285172 NA NA -0.00132725 0.06949461 NA 0.9310066 NA 0.03408368 NA FALSE NA 0.773 3.567 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 52/65 COSM604296&COSM604297 1 unknown(0) NA CCC C,T 5.765e-05 8:138623749 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 missense_variant 3.540883 0.96904 0.77272 0.638212 0.9903694 0 8.258326e-32 FALSE 3.67888e-05 ENSE00001414840_016 ENSE00001414840 016 8 139635922 139636091 - 53 54 63 C T 139635993 2335 99 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCTGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623749 138623750 138623750 exon -19 0.6666667 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCAGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 681 649 0.9942827 0.995291 0.9947868 NA NA 0.933496 0.9285172 NA NA 0.06078663 0.0667738 NA 0.9310066 NA 0.06378021 NA FALSE NA 0.66 -1.092 rs190601718 synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 52/65 rs190601718 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 2.471e-05 8:138623750 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 synonymous_variant 1.62698 0.86095 0.01488 0.638212 0.6123082 0 8.258326e-32 FALSE 1.22619e-05 ENSE00001414840_018 ENSE00001414840 018 8 139635922 139636091 - 53 54 63 C G 139636006 2337 86 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTGTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623762 138623763 138623763 exon 23 0.4259259 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCACAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 686 66 0.9979834 1 0.9989917 NA NA 0.933496 0.9285172 NA NA 0.06448736 0.07148282 NA 0.9310066 NA 0.06798509 NA FALSE NA 1 2.096 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 52/65 rs202139236 1 unknown(0) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 TCT C,G 8.236e-06 8:138623763 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 missense_variant 3.070529 0.98173 0.81654 0.638212 0.8763578 0 8.258326e-32 FALSE 4.08007e-06 ENSE00001414840_020 ENSE00001414840 020 8 139635922 139636091 - 53 54 63 C T 139636013 2339 79 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTTTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623769 138623770 138623770 exon 16 0.2962963 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAAAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 119 41 0.8296454 1 0.9148227 NA NA 0.933496 0.9285172 NA NA -0.1038506 0.07148282 NA 0.9310066 NA -0.01618391 NA FALSE NA 1 2.256 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 52/65 rs533480261 1 unknown(0) NA TCT C,T 1.647e-05 8:138623770 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 missense_variant 3.851151 0.9713 0.65063 0.638212 0.9873782 0 8.258326e-32 FALSE 8.16433e-06 ENSE00001414840_021 ENSE00001414840 021 8 139635922 139636091 - 53 54 63 T C 139636014 2340 78 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCCTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623770 138623771 138623771 exon 15 0.2777778 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAGGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 270 2008 0.9800947 0.9981401 0.9891174 NA NA 0.933496 0.9285172 NA NA 0.04659867 0.06962297 NA 0.9310066 NA 0.05811082 NA FALSE NA 0.998 -0.007 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 52/65 rs371500328 1 NA C:0.0002 C:0 CTT T,C 2.471e-05 8:138623771 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 synonymous_variant -0.078859 0.96006 0.4935 0.638212 0.6690492 0 8.258326e-32 FALSE 1.22474e-05 ENSE00001414840_022 ENSE00001414840 022 8 139635922 139636091 - 53 54 63 G A 139636017 2341 75 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTACCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623773 138623774 138623774 exon 12 0.2222222 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGTAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 792 266 0.995571 0.9987019 0.9971365 NA NA 0.933496 0.9285172 NA NA 0.06207498 0.0701847 NA 0.9310066 NA 0.06612984 NA FALSE NA 1 1.184 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 52/65 COSM3897098 1 NA TGC G,A 8.236e-06 8:138623774 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 synonymous_variant 1.2026 0.98128 0.73097 0.638212 0.7214738 0 8.258326e-32 FALSE NA ENSE00001414840_023 ENSE00001414840 023 8 139635922 139636091 - 53 54 63 C G 139636022 2342 70 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTGTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623778 138623779 138623779 exon 7 0.1296296 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAACAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 407 861 0.9116727 0.8747479 0.8932103 NA NA 0.933496 0.9285172 NA NA -0.02182337 -0.05376926 NA 0.9310066 NA -0.03779631 NA FALSE NA 1 3.567 rs146833838 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 52/65 rs146833838 1 unknown(0) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TCT C,G 8.236e-06 8:138623779 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 missense_variant 2.902452 0.98173 0.88645 0.638212 0.9664469 0 8.258326e-32 FALSE 4.0836e-06 ENSE00001414840_024 ENSE00001414840 024 8 139635922 139636091 - 53 54 63 A G 139636045 2343 47 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAGATTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623801 138623802 138623802 upstr_intron -17 -0.2539683 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATCTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 345 175 1 1 1 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.07148282 NA 0.9310066 NA 0.06899339 NA FALSE NA 0 -0.505 rs186001754 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 rs186001754 1 G:0.0018 G:0 G:0 NA G:0.0079 G:0 G:0.001 AAA A,G 0.0003624 8:138623802 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.204951 0.12836 0.01867 0.061011 0.48437 0.20018 8.258326e-32 FALSE 0.000428347 ENSE00001414840_025 ENSE00001414840 025 8 139635922 139636091 - 53 54 63 T C 139636047 2344 45 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAACTGGTTATCAGGTCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623803 138623804 138623804 upstr_intron -19 -0.2857143 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAGTTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 996 608 1 0.9988018 0.9994009 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.07028461 NA 0.9310066 NA 0.06839428 NA FALSE NA 0 -0.217 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA ATT T,C 8.236e-06 8:138623804 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.215799 0.12656 0.02909 0.061011 0.4076825 0.20018 8.258326e-32 FALSE 4.12106e-06 ENSE00001414840_026 ENSE00001414840 026 8 139635922 139636091 - 53 54 63 G A 139636058 2345 34 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGATCAAAGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623814 138623815 138623815 upstr_intron -30 -0.4603175 CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGATCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 517 1131 0.9921224 0.9641142 0.9781183 NA NA 0.933496 0.9285172 NA NA 0.05862638 0.03559706 NA 0.9310066 NA 0.04711172 NA FALSE NA 0 0.09 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA GGT G,A 8.236e-06 8:138623815 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant 0.172703 0.15773 0.04333 0.061011 0.769975 0.198937 8.258326e-32 FALSE 4.24903e-06 ENSE00001414840_027 ENSE00001414840 027 8 139635922 139636091 - 53 54 63 A G 139636063 2346 29 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAGGAAGATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623819 138623820 138623820 upstr_intron -35 -0.5396825 CTTCGTCTTTCCATCCCCTCGAATCTTCCTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 235 40 0.9454062 0.9990429 0.9722245 NA NA 0.933496 0.9285172 NA NA 0.01191016 0.07052569 NA 0.9310066 NA 0.04121793 NA FALSE NA 0 0.014 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA AAG A,G 8.236e-06 8:138623820 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant 0.160971 0.12077 0.01763 0.061011 0.5658706 0.111679 8.258326e-32 FALSE 4.30801e-06 ENSE00001414840_028 ENSE00001414840 028 8 139635922 139636091 - 53 54 63 G T 139636067 2347 25 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAATATTCGAGGGGATGGAAAGACGAAG 138623678 138623848 138623823 138623824 138623824 upstr_intron -39 -0.6031746 CTTCGTCTTTCCATCCCCTCGAATATTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 297 798 1 0.9989922 0.9994961 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.07047499 NA 0.9310066 NA 0.06848947 NA FALSE NA 0 -0.691 rs188011247 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 rs188011247 1 T:0.0010 T:0 T:0.0014 NA T:0 T:0.004 T:0 T:0.0002 T:0.0014 AGA G,T 0.0007495 8:138623824 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant 0.015753 0.14775 0.02841 0.061011 0.6339895 0.111679 8.258326e-32 FALSE 0.000816715 ENSE00001414840_029 ENSE00001414840 029 8 139635922 139636091 - 53 54 63 G A 139636072 2348 20 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCAAGGGGATGGAAAGACGAAG 138623678 138623848 138623828 138623829 138623829 upstr_intron -44 -0.6825397 CTTCGTCTTTCCATCCCCTTGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 539 196 0.9971403 0.9998056 0.9984729 NA NA 0.933496 0.9285172 NA NA 0.06364423 0.07128842 NA 0.9310066 NA 0.06746632 NA FALSE NA 0 0.627 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA CGA G,A 8.237e-06 8:138623829 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.195693 0.17792 0.05416 0.061011 0.5645091 0.0778125 8.258326e-32 FALSE 2.25012e-05 ENSE00001414840_030 ENSE00001414840 030 8 139635922 139636091 - 53 54 63 G C 139636075 2349 17 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGCGGATGGAAAGACGAAG 138623678 138623848 138623831 138623832 138623832 upstr_intron -47 -0.7301587 CTTCGTCTTTCCATCCGCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 1117 118 1 1 1 NA NA 0.933496 0.9285172 NA NA 0.06650395 0.07148282 NA 0.9310066 NA 0.06899339 NA FALSE NA 0 -0.92 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA GGG G,C 8.237e-06 8:138623832 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.180733 0.12266 0.02202 0.061011 0.3326567 0.0443366 8.258326e-32 FALSE 4.56563e-06 ENSE00001414840_031 ENSE00001414840 031 8 139635922 139636091 - 53 54 63 G T 139636076 2350 16 TGACATGTAATAGATTTGGCATGTGATATAATAGGAAGTTTAGAGTCCTTTACCGGCTCTCCAGGGGGACCCGGCTTTCCATCTCTGCCCTCTTTGCCTTCTTCTCCCTGCAAGAGAAACTCAAATTGGTTATCAGGTCAAAGAAGATTCGAGGTGATGGAAAGACGAAG 138623678 138623848 138623832 138623833 138623833 upstr_intron -48 -0.7460317 CTTCGTCTTTCCATCACCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA mutant NA NA NA NA NA 176 1034 0.9915177 1 0.9957588 NA NA 0.933496 0.9285172 NA NA 0.05802161 0.07148282 NA 0.9310066 NA 0.06475221 NA FALSE NA 0 -0.165 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA GGG G,T 1.647e-05 8:138623833 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003544573 intron_variant -0.273937 0.17237 0.08776 0.061011 0.505986 0.0789511 8.258326e-32 FALSE 9.17212e-06 ENSE00001414840_BRK ENSE00001414840 BRK 8 139635922 139636091 - 53 54 63 A,G; T,T NA NA NA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCTTGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGCCAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA 138623678 138623848 NA NA NA NA NA NA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCTTGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGCCAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA CTTCGTCTTTCCATCCCCTCGAATCTTCTTTGACCTGATAACCAATTTGAGTTTCTCTTGCAGGGAGAAGAAGGCAAAGAGGGCAGAGATGGAAAGCCGGGTCCCCCTGGAGAGCCGGTAAAGGACTCTAAACTTCCTATTATATCACATGCCAAATCTATTACATGTCA control NA NA NA NA NA 86 481 0.1146267 0 0.05731334 NA NA 0.933496 0.9285172 NA NA -0.8188694 -0.9285172 NA 0.9310066 NA -0.8736933 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003544573 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001414948_000 ENSE00001414948 000 8 139658819 139658988 - 53 54 63 NA NA NA NA NA ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG 138646575 138646745 NA NA NA NA NA NA ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG natural 85 65 0.85 0.9490767 0.8995383 1210 2793 0.9457008 0.943568 0.9446344 0.85 0.9490767 0.9457008 0.943568 0 0 0 0 0.8995383 0.9446344 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003555028 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001414948_001 ENSE00001414948 001 8 139658819 139658988 - 53 54 63 A T 139658840 2427 149 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGAACTATTCTGCTCATCTCAATGG 138646575 138646745 138646596 138646597 138646597 downstr_intron 32 1.615385 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGAACTATTCTGCTCATCTCAATGG ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG mutant NA NA NA NA NA 1280 156 0.8291778 0.9490013 0.8890896 0.85 0.9490767 0.9457008 0.943568 NA NA -0.116523 0.005433256 0.8995383 0.9446344 NA -0.05554487 NA FALSE NA 0.032 1.546 rs189591936 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 47/64 rs189591936 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GAT A,T 2.502e-05 8:138646597 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003555028 intron_variant -0.010778 0.1739 0.0813 0.061011 0.6601857 0.0519354 8.258326e-32 FALSE 4.12342e-05 ENSE00001414948_002 ENSE00001414948 002 8 139658819 139658988 - 53 54 63 T A 139658841 2428 148 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGTTCTATTCTGCTCATCTCAATGG 138646575 138646745 138646597 138646598 138646598 downstr_intron 31 1.596154 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGTTCTATTCTGCTCATCTCAATGG ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG mutant NA NA NA NA NA 275 83 0.9533589 0.95 0.9516795 0.85 0.9490767 0.9457008 0.943568 NA NA 0.007658097 0.006431971 0.8995383 0.9446344 NA 0.007045034 NA FALSE NA 0 -2.879 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138646598 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003555028 intron_variant -0.039541 0.09847 0.03061 0.061011 0.4560387 0.0519354 8.258326e-32 FALSE 0.000111262 ENSE00001414948_005 ENSE00001414948 005 8 139658819 139658988 - 53 54 63 C A 139658896 2431 93 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGTCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG 138646575 138646745 138646652 138646653 138646653 exon -25 0.5555556 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGTCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG mutant NA NA NA NA NA 1408 561 0.9536253 0.9705247 0.962075 0.85 0.9490767 0.9457008 0.943568 NA NA 0.007924451 0.02695665 0.8995383 0.9446344 NA 0.01744055 NA FALSE NA 0.606 -1.207 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138646653 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003555028 synonymous_variant 1.103418 0.94429 0.15896 0.638212 0.527849 0 8.258326e-32 FALSE 0.000112311 ENSE00001414948_006 ENSE00001414948 006 8 139658819 139658988 - 53 54 63 T C 139658938 2432 51 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTGTCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG 138646575 138646745 138646694 138646695 138646695 upstr_intron -13 -0.1904762 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTGTCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG mutant NA NA NA NA NA 192 507 0.9844358 0.8472816 0.9158587 0.85 0.9490767 0.9457008 0.943568 NA NA 0.03873493 -0.09628645 0.8995383 0.9446344 NA -0.02877576 NA FALSE NA 0 -0.46 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138646695 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003555028 intron_variant -0.115434 0.06241 0.00134 0.061011 0.7384415 0.0857529 8.258326e-32 FALSE 0.000822307 ENSE00001414948_008 ENSE00001414948 008 8 139658819 139658988 - 53 54 63 A G 139658945 2434 44 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTCTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG 138646575 138646745 138646701 138646702 138646702 upstr_intron -20 -0.3015873 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTCTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG mutant NA NA NA NA NA 240 32 1 0.9857478 0.9928739 0.85 0.9490767 0.9457008 0.943568 NA NA 0.05429917 0.04217974 0.8995383 0.9446344 NA 0.04823946 NA FALSE NA 0.011 0.51 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 46/64 rs567408165 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAA A,G 4.322e-05 8:138646702 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003555028 intron_variant -0.168559 0.13612 0.01306 0.061011 0.5976874 0.0443366 8.258326e-32 FALSE 4.21283e-05 ENSE00001414948_009 ENSE00001414948 009 8 139658819 139658988 - 53 54 63 A G 139658947 2435 42 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTCTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG 138646575 138646745 138646703 138646704 138646704 upstr_intron -22 -0.3333333 ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTCTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG mutant NA NA NA NA NA 639 991 1 0.9991118 0.9995559 0.85 0.9490767 0.9457008 0.943568 NA NA 0.05429917 0.05554379 0.8995383 0.9446344 NA 0.05492148 NA FALSE NA 0.001 0.098 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 46/64 1 NA AAA A,G 8.636e-06 8:138646704 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003555028 intron_variant 0.693186 0.21433 0.03865 0.061011 0.8311854 0.0443366 8.258326e-32 FALSE NA ENSE00001414948_BRK ENSE00001414948 BRK 8 139658819 139658988 - 53 54 63 A,G; T,T NA NA NA ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACTTGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGCCCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG 138646575 138646745 NA NA NA NA NA NA ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACTTGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGCCCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG ACCCTGGATGTGGGCCTGATACTCATTCTTGTTTTCTTTTTTTTTCTTGTATCCCTGATACAGGGAGAGGCTGGGCCTCCAGGCCTACCAGGGCCCCCAGGAATAGCTGGACCACAGGTCAGTGAGACTTCATAACCATCTGCATGGATCTATTCTGCTCATCTCAATGG control NA NA NA NA NA 33 180 0.05017665 0 0.02508833 0.85 0.9490767 0.9457008 0.943568 NA NA -0.8955242 -0.943568 0.8995383 0.9446344 NA -0.9195461 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003555028 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001415500_000 ENSE00001415500 000 8 25216438 25216607 + 41 99 30 NA NA NA NA NA GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 NA NA NA NA NA NA GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT natural 12 12 0.9844231 0.9694885 0.9769558 1663 1344 0.8729312 0.7191189 0.7960251 0.9844231 0.9694885 0.8729312 0.7191189 0 0 0 0 0.9769558 0.7960251 0 0 0 FALSE FALSE NA NA NA NA NA DOCK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK5 NA NA NA ENSG00000147459 ENSE00003561089 NA NA NA NA NA NA NA 0.001342686 FALSE NA ENSE00001415500_001 ENSE00001415500 001 8 25216438 25216607 + 41 99 30 G A 25216453 371 16 GTCTAAGGAGTCTTGAATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358936 25358937 25358937 upstr_intron -26 -0.6097561 GTCTAAGGAGTCTTGAATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 220 33 1 1 1 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2808811 0.9769558 0.7960251 NA 0.2039749 NA FALSE NA 0 -0.434 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 27/51 rs369531805 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 8:25358937 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 intron_variant 0.741667 0.22578 0.02619 0.074636 0.6884546 0.0862078 0.001342686 FALSE 8.12717e-06 ENSE00001415500_002 ENSE00001415500 002 8 25216438 25216607 + 41 99 30 T C 25216462 372 25 GTCTAAGGAGTCTTGGATTTGTGCCTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358945 25358946 25358946 upstr_intron -17 -0.3902439 GTCTAAGGAGTCTTGGATTTGTGCCTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 33 475 1 0.9963112 0.9981556 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2771922 0.9769558 0.7960251 NA 0.2021305 NA FALSE NA 0.022 0.422 rs187632291 intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 27/51 rs187632291 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTT T,C 8.236e-06 8:25358946 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 intron_variant 0.590611 0.32772 0.0402 0.074636 0.7866614 0.0862078 0.001342686 FALSE 4.06227e-06 ENSE00001415500_003 ENSE00001415500 003 8 25216438 25216607 + 41 99 30 C T 25216465 373 28 GTCTAAGGAGTCTTGGATTTGTGCTTTTCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358948 25358949 25358949 upstr_intron -14 -0.3170732 GTCTAAGGAGTCTTGGATTTGTGCTTTTCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 115 37 1 1 1 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2808811 0.9769558 0.7960251 NA 0.2039749 NA FALSE NA 0 -1.814 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 27/51 rs578087662 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCC C,T 3.295e-05 8:25358949 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 intron_variant 0.970563 0.20572 0.02538 0.074636 0.5077231 0.0862078 0.001342686 FALSE 1.21875e-05 ENSE00001415500_004 ENSE00001415500 004 8 25216438 25216607 + 41 99 30 T C 25216467 374 30 GTCTAAGGAGTCTTGGATTTGTGCTTTCCCTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358950 25358951 25358951 upstr_intron -12 -0.2682927 GTCTAAGGAGTCTTGGATTTGTGCTTTCCCTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 90 620 0.9995418 0.9921818 0.9958618 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1266106 0.2730629 0.9769558 0.7960251 NA 0.1998367 NA FALSE NA 0 0.243 . intron_variant MODIFIER DOCK5 HGNC 23476 ENST00000276440 27/51 1 NA CTT T,C 8.236e-06 8:25358951 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 intron_variant 0.915416 0.23884 0.04558 0.074636 0.7469386 0.0862078 0.001342686 FALSE 4.06253e-06 ENSE00001415500_005 ENSE00001415500 005 8 25216438 25216607 + 41 99 30 C G 25216475 375 38 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTGCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358958 25358959 25358959 upstr_intron -4 -0.07317073 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTGCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 374 805 0.9984492 1 0.9992246 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.125518 0.2808811 0.9769558 0.7960251 NA 0.2031995 NA FALSE NA 0.25 0.066 . splice_region_variant&intron_variant LOW DOCK5 HGNC 23476 ENST00000276440 27/51 1 NA TCC C,G 8.236e-06 8:25358959 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 splice_region_variant 1.24129 0.52247 0.14829 0.074636 0.7800807 0.21362 0.001342686 FALSE 4.06207e-06 ENSE00001415500_006 ENSE00001415500 006 8 25216438 25216607 + 41 99 30 G T 25216481 376 44 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGTAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358964 25358965 25358965 exon 3 0.03030303 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGTAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 191 104 1 0.9984762 0.9992381 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2793573 0.9769558 0.7960251 NA 0.203213 NA FALSE NA 0.969 0.113 . splice_region_variant&synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 28/52 1 NA GGA G,T 8.236e-06 8:25358965 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 splice_region_variant 1.347079 0.97989 0.81308 0.615465 0.891368 0 0.001342686 FALSE 1.21865e-05 ENSE00001415500_007 ENSE00001415500 007 8 25216438 25216607 + 41 99 30 T C 25216486 377 49 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTCTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358969 25358970 25358970 exon 8 0.08080808 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTCTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 107 12 0.9306399 0.9865868 0.9586134 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.05770871 0.2674679 0.9769558 0.7960251 NA 0.1625883 NA FALSE NA 1 6.137 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 deleterious(0) possibly_damaging(0.772) NA TTT T,C 8.237e-06 8:25358970 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 6.23956 0.99132 0.99438 0.615465 0.9985289 0 0.001342686 FALSE 8.1314e-06 ENSE00001415500_008 ENSE00001415500 008 8 25216438 25216607 + 41 99 30 G T 25216499 378 62 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATTATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358982 25358983 25358983 exon 21 0.2121212 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATTATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 268 884 0.9495012 0.9973299 0.9734156 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.07657001 0.278211 0.9769558 0.7960251 NA 0.1773905 NA FALSE NA 1 9.821 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 deleterious(0.02) possibly_damaging(0.877) NA TGA G,T 1.648e-05 8:25358983 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 6.48116 0.99726 0.99912 0.615465 0.9960429 0 0.001342686 FALSE NA ENSE00001415500_009 ENSE00001415500 009 8 25216438 25216607 + 41 99 30 C T 25216504 379 67 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGTCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358987 25358988 25358988 exon 26 0.2626263 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGTCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 629 254 0.9967549 0.9903399 0.9935474 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1238236 0.2712209 0.9769558 0.7960251 NA 0.1975223 NA FALSE NA 1 7.781 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 deleterious(0) possibly_damaging(0.484) NA GCC C,T 1.647e-05 8:25358988 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 6.868822 0.99697 0.99842 0.638212 0.9986184 0 0.001342686 FALSE NA ENSE00001415500_010 ENSE00001415500 010 8 25216438 25216607 + 41 99 30 G A 25216511 380 74 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTACAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25358994 25358995 25358995 exon 33 0.3333333 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTACAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 387 211 0.9933272 0.9755545 0.9844408 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.120396 0.2564355 0.9769558 0.7960251 NA 0.1884158 NA FALSE NA 1 1.177 . synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 28/52 1 NA TGC G,A 8.236e-06 8:25358995 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 synonymous_variant 0.587953 0.976 0.94503 0.553676 0.6652243 0 0.001342686 FALSE 4.0654e-06 ENSE00001415500_013 ENSE00001415500 013 8 25216438 25216607 + 41 99 30 G A 25216524 383 87 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACAACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359007 25359008 25359008 exon 46 0.4646465 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACAACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 124 222 1 1 1 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2808811 0.9769558 0.7960251 NA 0.2039749 NA FALSE NA 1 7.986 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 COSM3834470 1 tolerated(0.08) possibly_damaging(0.471) NA CGA G,A 8.236e-06 8:25359008 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 5.716115 0.99594 0.99608 0.553676 0.9988005 0 0.001342686 FALSE 4.07628e-06 ENSE00001415500_014 ENSE00001415500 014 8 25216438 25216607 + 41 99 30 A C 25216531 384 94 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCCCTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359014 25359015 25359015 exon -47 0.5353535 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCCCTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 1092 682 0.9988639 1 0.9994319 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1259327 0.2808811 0.9769558 0.7960251 NA 0.2034069 NA FALSE NA 1 7.491 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 deleterious(0) probably_damaging(0.999) NA CAC A,C 4.942e-05 8:25359015 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 5.2616 0.99456 0.99333 0.553676 0.9859691 0 0.001342686 FALSE 4.0618e-05 ENSE00001415500_016 ENSE00001415500 016 8 25216438 25216607 + 41 99 30 A G 25216540 386 103 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCGCTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359023 25359024 25359024 exon -38 0.6262626 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCGCTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 510 41 1 1 1 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2808811 0.9769558 0.7960251 NA 0.2039749 NA FALSE NA 1 7.479 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 tolerated(0.39) benign(0.017) NA CAC A,G 1.647e-05 8:25359024 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 1.299926 0.99076 0.99343 0.638212 0.9699992 0 0.001342686 FALSE 4.06194e-06 ENSE00001415500_017 ENSE00001415500 017 8 25216438 25216607 + 41 99 30 C T 25216541 387 104 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCATTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359024 25359025 25359025 exon -37 0.6363636 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCATTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 486 95 1 0.9983316 0.9991658 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2792126 0.9769558 0.7960251 NA 0.2031407 NA FALSE NA 1 1.287 . synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 28/52 1 NA ACT C,T 2.471e-05 8:25359025 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 synonymous_variant 1.053283 0.97386 0.88455 0.638212 0.3891555 0 0.001342686 FALSE 1.21859e-05 ENSE00001415500_018 ENSE00001415500 018 8 25216438 25216607 + 41 99 30 A G 25216543 388 106 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTGCATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359026 25359027 25359027 exon -35 0.6565657 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTGCATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 624 1318 0.9842759 0.9572377 0.9707568 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1113447 0.2381188 0.9769558 0.7960251 NA 0.1747317 NA FALSE NA 1 9.321 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 deleterious(0) possibly_damaging(0.88) NA TAC A,G 8.236e-06 8:25359027 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 5.640361 0.99069 0.99524 0.638212 0.9983763 0 0.001342686 FALSE 4.06194e-06 ENSE00001415500_019 ENSE00001415500 019 8 25216438 25216607 + 41 99 30 C T 25216544 389 107 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTATATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359027 25359028 25359028 exon -34 0.6666667 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTATATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 354 182 0.9971761 1 0.998588 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1242449 0.2808811 0.9769558 0.7960251 NA 0.202563 NA FALSE NA 1 2.172 . synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 28/52 1 NA ACA C,T 8.236e-06 8:25359028 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 synonymous_variant 1.085614 0.97803 0.92863 0.638212 0.4381612 0 0.001342686 FALSE NA ENSE00001415500_021 ENSE00001415500 021 8 25216438 25216607 + 41 99 30 C T 25216552 391 115 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCATTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359035 25359036 25359036 exon -26 0.7474747 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCATTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 45 182 1 0.9997906 0.9998953 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2806717 0.9769558 0.7960251 NA 0.2038702 NA FALSE NA 1 6.072 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 deleterious(0.05) benign(0.076) NA ACT C,T 8.236e-06 8:25359036 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 3.965527 0.99585 0.99067 0.638212 0.9983186 0 0.001342686 FALSE NA ENSE00001415500_022 ENSE00001415500 022 8 25216438 25216607 + 41 99 30 C G 25216556 392 119 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTGAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359039 25359040 25359040 exon -22 0.7878788 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTGAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 119 31 1 1 1 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2808811 0.9769558 0.7960251 NA 0.2039749 NA FALSE NA 1 6.021 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 deleterious(0) probably_damaging(0.978) NA TCA C,G 8.236e-06 8:25359040 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 5.948587 0.99606 0.99425 0.638212 0.9986672 0 0.001342686 FALSE 4.06263e-06 ENSE00001415500_023 ENSE00001415500 023 8 25216438 25216607 + 41 99 30 C T 25216562 393 125 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACTAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359045 25359046 25359046 exon -16 0.8484848 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACTAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 559 15 0.9963493 1 0.9981746 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.123418 0.2808811 0.9769558 0.7960251 NA 0.2021496 NA FALSE NA 1 0.848 . synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 28/52 1 NA CCA C,T 8.236e-06 8:25359046 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 synonymous_variant 1.567242 0.92132 0.88563 0.638212 0.7103808 0 0.001342686 FALSE 8.12599e-06 ENSE00001415500_024 ENSE00001415500 024 8 25216438 25216607 + 41 99 30 A G 25216572 394 135 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACGTCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359055 25359056 25359056 exon -6 0.9494949 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACGTCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 81 1406 1 1 1 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.1270688 0.2808811 0.9769558 0.7960251 NA 0.2039749 NA FALSE NA 1 1.92 . missense_variant MODERATE DOCK5 HGNC 23476 ENST00000276440 28/52 1 tolerated(0.31) benign(0.002) NA CAT A,G 1.647e-05 8:25359056 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 missense_variant 1.02248 0.96008 0.91228 0.638212 0.9201246 0 0.001342686 FALSE 8.12684e-06 ENSE00001415500_025 ENSE00001415500 025 8 25216438 25216607 + 41 99 30 C T 25216577 395 140 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATTGTAAGTTGCCTTTACTGGTCCTGGTAACCT 25358921 25359091 25359060 25359061 25359061 exon -1 1 GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATTGTAAGTTGCCTTTACTGGTCCTGGTAACCT GTCTAAGGAGTCTTGGATTTGTGCTTTCCTTTTCCTTCCAGGGGAGTTTTGTGGCTTGCATGATTGCCCTGCTGCAGCAAATGGACGACAGCCACTATAGCCACTACATCAGCACTTTCAAAACCAGACAAGACATCATCGTAAGTTGCCTTTACTGGTCCTGGTAACCT mutant NA NA NA NA NA 33 57 0.9041979 1 0.9520989 0.9844231 0.9694885 0.8729312 0.7191189 NA NA 0.03126665 0.2808811 0.9769558 0.7960251 NA 0.1560739 NA FALSE NA 0.031 -0.934 rs142002799 splice_region_variant&synonymous_variant LOW DOCK5 HGNC 23476 ENST00000276440 28/52 rs142002799 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 8.236e-06 8:25359061 DOCK5 HGNC Symbol protein_coding 233359 ENSG00000147459 ENSE00003561089 splice_region_variant 1.691045 0.81736 0.02777 0.638212 0.8177218 0 0.001342686 FALSE 8.12691e-06 ENSE00001416091_000 ENSE00001416091 000 9 137007710 137007879 + 48 84 38 NA NA NA NA NA TGTCCCCTCTCCTTCCTGTAAAATCACTGTCATCTCTTTTGTGTTCAGTTTGACGAAAGCGTGAGGATATGGGATGTGAAAACAGGGAAGTGCCTCAAGACTTTGCCAGCTCACTCGGATCCAGTCTCGGCCGTAAGTCCCTCTGACACGGATGGGGTGGTGTCCAGCAC 134142587 134142757 NA NA NA NA NA NA TGTCCCCTCTCCTTCCTGTAAAATCACTGTCATCTCTTTTGTGTTCAGTTTGACGAAAGCGTGAGGATATGGGATGTGAAAACAGGGAAGTGCCTCAAGACTTTGCCAGCTCACTCGGATCCAGTCTCGGCCGTAAGTCCCTCTGACACGGATGGGGTGGTGTCCAGCAC TGTCCCCTCTCCTTCCTGTAAAATCACTGTCATCTCTTTTGTGTTCAGTTTGACGAAAGCGTGAGGATATGGGATGTGAAAACAGGGAAGTGCCTCAAGACTTTGCCAGCTCACTCGGATCCAGTCTCGGCCGTAAGTCCCTCTGACACGGATGGGGTGGTGTCCAGCAC natural NA NA NA NA NA 328 1256 0.9998745 0.9926615 0.996268 NA NA 0.9998745 0.9926615 NA NA 0 0 NA 0.996268 NA 0 NA FALSE NA NA NA NA NA NA WDR5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR5 NA NA NA ENSG00000196363 ENSE00001416091 NA NA NA NA NA NA NA 0.9987022 TRUE NA ENSE00001416091_009 ENSE00001416091 009 9 137007710 137007879 + 48 84 38 C T 137007802 3474 93 TGTCCCCTCTCCTTCCTGTAAAATCACTGTCATCTCTTTTGTGTTCAGTTTGACGAAAGCGTGAGGATATGGGATGTGAAAACAGGGAAGTGTCTCAAGACTTTGCCAGCTCACTCGGATCCAGTCTCGGCCGTAAGTCCCTCTGACACGGATGGGGTGGTGTCCAGCAC 134142587 134142757 134142679 134142680 134142680 exon -40 0.5357143 TGTCCCCTCTCCTTCCTGTAAAATCACTGTCATCTCTTTTGTGTTCAGTTTGACGAAAGCGTGAGGATATGGGATGTGAAAACAGGGAAGTGTCTCAAGACTTTGCCAGCTCACTCGGATCCAGTCTCGGCCGTAAGTCCCTCTGACACGGATGGGGTGGTGTCCAGCAC TGTCCCCTCTCCTTCCTGTAAAATCACTGTCATCTCTTTTGTGTTCAGTTTGACGAAAGCGTGAGGATATGGGATGTGAAAACAGGGAAGTGCCTCAAGACTTTGCCAGCTCACTCGGATCCAGTCTCGGCCGTAAGTCCCTCTGACACGGATGGGGTGGTGTCCAGCAC mutant NA NA NA NA NA 48 21 1 1 1 NA NA 0.9998745 0.9926615 NA NA 0.0001255349 0.007338459 NA 0.996268 NA 0.003731997 NA FALSE NA 1 2.705 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 rs368391812 1 NA T:0.0002 T:0 GCC C,T 2.471e-05 9:134142680 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001416091 synonymous_variant 2.001521 0.93358 0.75057 0.67177 0.7555721 0 0.9987022 TRUE 2.03036e-05 ENSE00001416835_000 ENSE00001416835 000 8 139642885 139643054 - 53 54 63 NA NA NA NA NA GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 NA NA NA NA NA NA GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG natural 130 53 0.9987904 0.9991534 0.9989719 2393 2419 0.9864443 0.9311416 0.958793 0.9987904 0.9991534 0.9864443 0.9311416 0 0 0 0 0.9989719 0.958793 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003604203 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001416835_002 ENSE00001416835 002 8 139642885 139643054 - 53 54 63 G A 139642899 2377 156 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTTTTTAGCCTTTCTGG 138630641 138630811 138630655 138630656 138630656 downstr_intron 39 1.75 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTTTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 1573 255 0.9957595 0.9993793 0.9975694 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.009315221 0.06823769 0.9989719 0.958793 NA 0.03877646 NA FALSE NA 0.003 0.07 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 rs529275132 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGA G,A 8.236e-06 8:138630656 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.033309 0.1604 0.02736 0.061011 0.2672547 0.0418249 8.258326e-32 FALSE 4.07548e-06 ENSE00001416835_003 ENSE00001416835 003 8 139642885 139643054 - 53 54 63 A G 139642915 2378 140 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGACCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630671 138630672 138630672 downstr_intron 23 1.442308 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGACCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 878 190 0.9909688 0.9991667 0.9950678 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.004524494 0.06802511 0.9989719 0.958793 NA 0.0362748 NA FALSE NA 0 -0.209 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 1 NA GAT A,G 8.236e-06 8:138630672 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.146799 0.16945 0.00601 0.061011 0.7160342 0.0608665 8.258326e-32 FALSE 4.07312e-06 ENSE00001416835_004 ENSE00001416835 004 8 139642885 139643054 - 53 54 63 C T 139642918 2379 137 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGAGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630674 138630675 138630675 downstr_intron 20 1.384615 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGAGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 107 43 1 1 1 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01355569 0.0688584 0.9989719 0.958793 NA 0.04120705 NA FALSE NA 0 -0.443 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 1 NA CCC C,T 8.236e-06 8:138630675 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.070905 0.16448 0.04423 0.061011 0.3772014 0.0608665 8.258326e-32 FALSE 4.07295e-06 ENSE00001416835_005 ENSE00001416835 005 8 139642885 139643054 - 53 54 63 C T 139642924 2380 131 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAAGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630680 138630681 138630681 downstr_intron 14 1.269231 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAAGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 255 464 1 0.999659 0.9998295 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01355569 0.06851741 0.9989719 0.958793 NA 0.04103655 NA FALSE NA 0 -0.819 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 1 NA CCT C,T 8.236e-06 8:138630681 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.025499 0.1203 0.01094 0.061011 0.4531115 0.0608665 8.258326e-32 FALSE 4.07219e-06 ENSE00001416835_007 ENSE00001416835 007 8 139642885 139643054 - 53 54 63 T C 139642953 2382 102 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGGATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630709 138630710 138630710 exon -16 0.7222222 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGGATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 1078 37 0.9968295 0.9478983 0.9723639 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01038515 0.01675669 0.9989719 0.958793 NA 0.01357092 NA FALSE NA 0.951 0.686 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 50/65 rs375666145 1 NA C:0 C:0.0001 TTC T,C 8.236e-06 8:138630710 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 synonymous_variant 0.467119 0.93767 0.65737 0.638212 0.7832928 0 8.258326e-32 FALSE 4.0714e-06 ENSE00001416835_008 ENSE00001416835 008 8 139642885 139643054 - 53 54 63 G A 139642960 2383 95 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACTACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630716 138630717 138630717 exon -23 0.5925926 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACTACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 174 71 0.9954177 0.9847279 0.9900728 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.00897341 0.05358628 0.9989719 0.958793 NA 0.03127984 NA FALSE NA 0.992 2.36 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 50/65 1 unknown(0) NA TGG G,A 8.236e-06 8:138630717 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 missense_variant 2.693992 0.90909 0.76541 0.638212 0.3224642 0 8.258326e-32 FALSE 8.14326e-06 ENSE00001416835_009 ENSE00001416835 009 8 139642885 139643054 - 53 54 63 C A 139642967 2384 88 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTTCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630723 138630724 138630724 exon 25 0.462963 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTTCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 139 111 1 1 1 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01355569 0.0688584 0.9989719 0.958793 NA 0.04120705 NA FALSE NA 0.571 1.006 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 50/65 rs549424389&COSM122280 1 unknown(0) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GCA C,A 9.06e-05 8:138630724 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 missense_variant 3.319547 0.98066 0.85694 0.638212 0.9670081 0 8.258326e-32 FALSE 6.5154e-05 ENSE00001416835_010 ENSE00001416835 010 8 139642885 139643054 - 53 54 63 T C 139642974 2385 81 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCGGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630730 138630731 138630731 exon 18 0.3333333 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCGGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 720 1109 0.9971644 0.9589084 0.9780364 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01072011 0.02776685 0.9989719 0.958793 NA 0.01924348 NA FALSE NA 0.001 -2.713 rs4131277 synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 50/65 rs4131277&COSM3982413 1 C:0.2620 C:0.5439 C:0.2522 NA C:0.1974 C:0.0795 C:0.1421 C:0.4707 C:0.097 CTG C,C 0.168 8:138630731 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 synonymous_variant 0.39507 0.07509 0.00795 0.638212 0.4279442 0 8.258326e-32 FALSE 0.165001 ENSE00001416835_011 ENSE00001416835 011 8 139642885 139643054 - 53 54 63 G A 139642975 2386 80 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGTAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630731 138630732 138630732 exon 17 0.3148148 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGTAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 141 693 0.9684105 0.9874054 0.9779079 0.9987904 0.9991534 0.9864443 0.9311416 NA NA -0.01803384 0.05626376 0.9989719 0.958793 NA 0.01911496 NA FALSE NA 0.11 4.786 rs149747743 missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 50/65 rs149747743 1 unknown(0) A:0.0036 A:0.0136 A:0 NA A:0 A:0 A:0 A:0.0129 A:0 TGC G,A 0.00117 8:138630732 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 missense_variant 2.959041 0.43553 0.47498 0.638212 0.9939823 0 8.258326e-32 FALSE 0.000838981 ENSE00001416835_012 ENSE00001416835 012 8 139642885 139643054 - 53 54 63 A G 139642978 2387 77 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAACTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630734 138630735 138630735 exon 14 0.2592593 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAACTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 853 115 0.999627 0.9001218 0.9498744 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01318265 -0.03101976 0.9989719 0.958793 NA -0.008918555 NA FALSE NA 0 -0.345 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 50/65 1 unknown(0) NA AAT A,G 1.647e-05 8:138630735 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 missense_variant 1.227602 0.17083 0.01553 0.638212 0.7130263 0 8.258326e-32 FALSE 8.14465e-06 ENSE00001416835_013 ENSE00001416835 013 8 139642885 139643054 - 53 54 63 C G 139642981 2388 74 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGCAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630737 138630738 138630738 exon 11 0.2037037 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGCAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 270 80 0.9917025 1 0.9958513 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.005258198 0.0688584 0.9989719 0.958793 NA 0.0370583 NA FALSE NA 0.635 3.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138630738 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 missense_variant 2.873127 0.9852 0.93802 0.638212 0.9906251 0 8.258326e-32 FALSE NA ENSE00001416835_014 ENSE00001416835 014 8 139642885 139643054 - 53 54 63 C T 139642981 2389 74 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGAAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630737 138630738 138630738 exon 11 0.2037037 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGAAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 4406 187 0.979387 0.9495488 0.9644679 0.9987904 0.9991534 0.9864443 0.9311416 NA NA -0.007057317 0.01840725 0.9989719 0.958793 NA 0.005674968 NA FALSE NA 0.635 3.78 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003604203 missense_variant 3.666901 0.98435 0.924 0.638212 0.9929549 0 8.258326e-32 FALSE 8.14657e-06 ENSE00001416835_015 ENSE00001416835 015 8 139642885 139643054 - 53 54 63 A G 139642983 2390 72 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGACGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630739 138630740 138630740 exon 9 0.1666667 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGACGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 129 267 1 1 1 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01355569 0.0688584 0.9989719 0.958793 NA 0.04120705 NA FALSE NA 0.364 1.047 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 50/65 1 NA CAT A,G 8.236e-06 8:138630740 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 synonymous_variant 0.540152 0.95716 0.56996 0.638212 0.6242185 0 8.258326e-32 FALSE NA ENSE00001416835_017 ENSE00001416835 017 8 139642885 139643054 - 53 54 63 C T 139642988 2392 67 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGACAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630744 138630745 138630745 exon 4 0.07407407 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGACAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 1379 878 0.89333 0.9964212 0.9448756 0.9987904 0.9991534 0.9864443 0.9311416 NA NA -0.09311435 0.06527958 0.9989719 0.958793 NA -0.01391739 NA FALSE NA 0.158 -0.165 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 50/65 rs369720357 1 unknown(0) NA T:0 T:0.0002 GCC C,T 2.471e-05 8:138630745 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 missense_variant 3.489721 0.96947 0.23274 0.638212 0.9371066 0 8.258326e-32 FALSE 2.03732e-05 ENSE00001416835_018 ENSE00001416835 018 8 139642885 139643054 - 53 54 63 C G 139642989 2393 66 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGCGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630745 138630746 138630746 exon 3 0.05555556 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGCGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 442 38 0.999159 1 0.9995795 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.0127147 0.0688584 0.9989719 0.958793 NA 0.04078655 NA FALSE NA 0.206 0.355 . splice_region_variant&synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 50/65 rs201322169 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CCC C,G 0.000906 8:138630746 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 splice_region_variant 1.391344 0.96493 0.34677 0.638212 0.7947264 0 8.258326e-32 FALSE 0.000994279 ENSE00001416835_019 ENSE00001416835 019 8 139642885 139643054 - 53 54 63 A G 139643003 2394 52 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTCGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630759 138630760 138630760 upstr_intron -12 -0.1746032 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTCGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 75 154 1 1 1 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01355569 0.0688584 0.9989719 0.958793 NA 0.04120705 NA FALSE NA 0.009 1.504 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138630760 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 1.179426 0.19863 0.44614 0.074636 0.8085102 0.348169 8.258326e-32 FALSE 4.0789e-06 ENSE00001416835_020 ENSE00001416835 020 8 139642885 139643054 - 53 54 63 A C 139643003 2395 52 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTGGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630759 138630760 138630760 upstr_intron -12 -0.1746032 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTGGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 569 140 0.9968597 0.9966698 0.9967647 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01041535 0.06552822 0.9989719 0.958793 NA 0.03797179 NA FALSE NA 0.009 1.504 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003604203 intron_variant 0.897565 0.20531 0.44784 0.074636 0.8043243 0.348169 8.258326e-32 FALSE 4.0789e-06 ENSE00001416835_022 ENSE00001416835 022 8 139642885 139643054 - 53 54 63 G A 139643006 2397 49 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGTCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630762 138630763 138630763 upstr_intron -15 -0.2222222 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGTCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 438 476 1 1 1 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01355569 0.0688584 0.9989719 0.958793 NA 0.04120705 NA FALSE NA 0.009 0.648 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA GGC G,A 8.236e-06 8:138630763 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.701258 0.27723 0.34437 0.074636 0.4764982 0.12641 8.258326e-32 FALSE 4.08093e-06 ENSE00001416835_023 ENSE00001416835 023 8 139642885 139643054 - 53 54 63 G A 139643009 2398 46 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTTTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630765 138630766 138630766 upstr_intron -18 -0.2698413 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTTTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 43 600 0.9155161 0.913776 0.914646 0.9987904 0.9991534 0.9864443 0.9311416 NA NA -0.07092824 -0.01736561 0.9989719 0.958793 NA -0.04414692 NA FALSE NA 0.001 0.712 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA AGA G,A 1.647e-05 8:138630766 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 1.177689 0.96168 0.68311 0.074636 0.6900667 0.947685 8.258326e-32 FALSE 2.041e-05 ENSE00001416835_024 ENSE00001416835 024 8 139642885 139643054 - 53 54 63 T G 139643019 2399 36 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGACACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630775 138630776 138630776 upstr_intron -28 -0.4285714 GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGACACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 888 293 0.9996287 0.998426 0.9990273 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01318435 0.06728437 0.9989719 0.958793 NA 0.04023436 NA FALSE NA 0.007 1.31 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA TTT T,G 8.236e-06 8:138630776 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.371531 0.2351 0.14453 0.074636 0.7655976 0.0647611 8.258326e-32 FALSE 4.08761e-06 ENSE00001416835_025 ENSE00001416835 025 8 139642885 139643054 - 53 54 63 G T 139643024 2400 31 GAGGGTGCTAATGACCTCTGTCTAGATGCAAAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630780 138630781 138630781 upstr_intron -33 -0.5079365 GAGGGTGCTAATGACCTCTGTCTAGATGCAAAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 1338 135 0.9998461 1 0.9999231 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.0134018 0.0688584 0.9989719 0.958793 NA 0.0411301 NA FALSE NA 0.001 0.673 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA TGT G,T 8.236e-06 8:138630781 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant -0.197724 0.19391 0.10047 0.061011 0.6408963 0.0647611 8.258326e-32 FALSE 4.09453e-06 ENSE00001416835_026 ENSE00001416835 026 8 139642885 139643054 - 53 54 63 C A 139643030 2401 25 GAGGGTGCTAATGACCTCTGTCTATATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630786 138630787 138630787 upstr_intron -39 -0.6031746 GAGGGTGCTAATGACCTCTGTCTATATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 50 351 1 0.9709923 0.9854961 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01355569 0.03985067 0.9989719 0.958793 NA 0.02670318 NA FALSE NA 0 -0.716 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA TCT C,A 1.647e-05 8:138630787 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.267112 0.19685 0.0375 0.061011 0.5646702 0.0448725 8.258326e-32 FALSE NA ENSE00001416835_027 ENSE00001416835 027 8 139642885 139643054 - 53 54 63 T C 139643031 2402 24 GAGGGTGCTAATGACCTCTGTCTGGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630787 138630788 138630788 upstr_intron -40 -0.6190476 GAGGGTGCTAATGACCTCTGTCTGGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 1241 314 0.9644617 1 0.9822309 0.9987904 0.9991534 0.9864443 0.9311416 NA NA -0.02198259 0.0688584 0.9989719 0.958793 NA 0.02343791 NA FALSE NA 0 -0.253 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA CTA T,C 8.236e-06 8:138630788 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.060319 0.16105 0.02674 0.061011 0.7359082 0.0448725 8.258326e-32 FALSE NA ENSE00001416835_028 ENSE00001416835 028 8 139642885 139643054 - 53 54 63 C A 139643042 2403 13 GAGGGTGCTAATTACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 138630798 138630799 138630799 upstr_intron -51 -0.7936508 GAGGGTGCTAATTACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG mutant NA NA NA NA NA 472 191 1 1 1 0.9987904 0.9991534 0.9864443 0.9311416 NA NA 0.01355569 0.0688584 0.9989719 0.958793 NA 0.04120705 NA FALSE NA 0.008 0.364 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 49/64 1 NA TCA C,A 1.647e-05 8:138630799 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003604203 intron_variant 0.37278 0.20993 0.06504 0.061011 0.6967723 0.0448725 8.258326e-32 FALSE 8.23357e-06 ENSE00001416835_BRK ENSE00001416835 BRK 8 139642885 139643054 - 53 54 63 A,G; T,T NA NA NA GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTTTGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTCCAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG 138630641 138630811 NA NA NA NA NA NA GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTTTGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTCCAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG GAGGGTGCTAATGACCTCTGTCTAGATGCACAAGAAACTAGCTTTCTGCCTTGTCTTTTTTAGGGGGCAGATGGAATTGCAGGAGCTGCTGGACCACCAGGAATCCAAGGGTCACCTGTAAGTTCCTCAAGGAATGGGATCTGTTTTTAATCTGTCTTTAGCCTTTCTGG control NA NA NA NA NA 33 142 0 0 0 0.9987904 0.9991534 0.9864443 0.9311416 NA NA -0.9864443 -0.9311416 0.9989719 0.958793 NA -0.958793 NA TRUE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003604203 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001416945_000 ENSE00001416945 000 8 139715490 139715659 - 59 42 69 NA NA NA NA NA GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTAGGGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACTGTAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC 138703246 138703416 NA NA NA NA NA NA GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTAGGGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACTGTAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTAGGGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACTGTAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC natural 126 223 0.9672231 0.835519 0.901371 1724 2634 0.9460563 0.9926963 0.9693763 0.9672231 0.835519 0.9460563 0.9926963 0 0 0 0 0.901371 0.9693763 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003495780 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001416945_017 ENSE00001416945 017 8 139715490 139715659 - 59 42 69 A C 139715576 2628 84 GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTAGGGTGAAGCTGGTCCGGCAGGCCCTCCCGGGTTACCTGGAACTGTAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC 138703246 138703416 138703332 138703333 138703333 exon 15 0.3571429 GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTAGGGTGAAGCTGGTCCGGCAGGCCCTCCCGGGTTACCTGGAACTGTAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTAGGGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACTGTAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC mutant NA NA NA NA NA 451 445 1 1 1 0.9672231 0.835519 0.9460563 0.9926963 NA NA 0.05394367 0.007303666 0.901371 0.9693763 NA 0.03062367 NA FALSE NA 0.007 -1.203 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 31/65 COSM328632 1 NA CAG A,C 8.236e-06 8:138703333 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003495780 synonymous_variant -0.323428 0.93651 0.03192 0.638212 0.6348368 0 8.258326e-32 FALSE 4.06111e-06 ENSE00001416945_BRK ENSE00001416945 BRK 8 139715490 139715659 - 59 42 69 A,G; T,T NA NA NA GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTTTGGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACTCCAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC 138703246 138703416 NA NA NA NA NA NA GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTTTGGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACTCCAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC GATCTGTTGCAGCATAAGCAGAGTTGGGAGGAAGATTAATGGTCATGGATTTTCCATTTCTCCATCTAGGGTGAAGCTGGTCCTGCAGGCCCTCCCGGGTTACCTGGAACTGTAAGTTACTCCGCTTCTAATTCTTTCTCCTCTGAATTCCTATATTGGGATTCGTACTC control 319 27 0.01641491 0 0.008207456 NA NA NA NA NA 0.9672231 0.835519 0.9460563 0.9926963 -0.9508081 -0.835519 NA NA 0.901371 0.9693763 -0.8931636 NA NA NA TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003495780 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001417450_000 ENSE00001417450 000 4 87732140 87732309 + 59 63 48 NA NA NA NA NA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 NA NA NA NA NA NA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA natural NA NA NA NA NA 4948 3045 0.9436644 0.9723031 0.9579838 NA NA 0.9436644 0.9723031 NA NA 0 0 NA 0.9579838 NA 0 NA FALSE NA NA NA NA NA NA PTPN13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN13 NA NA NA ENSG00000163629 ENSE00001417450 NA NA NA NA NA NA NA 5.056927e-10 FALSE NA ENSE00001417450_003 ENSE00001417450 003 4 87732140 87732309 + 59 63 48 A G 87732180 863 41 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATGTGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811026 86811027 86811027 upstr_intron -19 -0.3050847 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATGTGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 110 511 0.998604 0.9965766 0.9975903 NA NA 0.9436644 0.9723031 NA NA 0.05493959 0.02427348 NA 0.9579838 NA 0.03960653 NA FALSE NA 0 -0.791 . intron_variant MODIFIER PTPN13 HGNC 9646 ENST00000411767 46/47 1 NA TAT A,G 8.276e-06 4:86811027 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 intron_variant -0.44978 0.18922 0.02222 0.106106 0.3048385 0.0659502 5.056927e-10 FALSE 4.07193e-06 ENSE00001417450_005 ENSE00001417450 005 4 87732140 87732309 + 59 63 48 C T 87732190 865 51 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCTTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811036 86811037 86811037 upstr_intron -9 -0.1355932 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCTTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 562 1556 1 0.9990618 0.9995309 NA NA 0.9436644 0.9723031 NA NA 0.05633562 0.02675862 NA 0.9579838 NA 0.04154712 NA FALSE NA 0.001 0.858 . intron_variant MODIFIER PTPN13 HGNC 9646 ENST00000411767 46/47 1 NA CCT C,T 8.276e-06 4:86811037 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 intron_variant 0.571292 0.21952 0.0104 0.106106 0.583354 0.2275 5.056927e-10 FALSE 4.06722e-06 ENSE00001417450_006 ENSE00001417450 006 4 87732140 87732309 + 59 63 48 A C 87732203 866 64 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGCCATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811049 86811050 86811050 exon 5 0.07936508 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGCCATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 1112 204 1 0.9925789 0.9962895 NA NA 0.9436644 0.9723031 NA NA 0.05633562 0.02027578 NA 0.9579838 NA 0.0383057 NA FALSE NA 1 6.824 . missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 1 deleterious(0) possibly_damaging(0.551) NA GAC A,C 2.482e-05 4:86811050 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 5.899938 0.99173 0.99459 0.732398 0.9883943 0 5.056927e-10 FALSE 2.84569e-05 ENSE00001417450_007 ENSE00001417450 007 4 87732140 87732309 + 59 63 48 A G 87732205 867 66 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACGTCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811051 86811052 86811052 exon 7 0.1111111 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACGTCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 1146 335 1 0.9971568 0.9985784 NA NA 0.9436644 0.9723031 NA NA 0.05633562 0.02485364 NA 0.9579838 NA 0.04059463 NA FALSE NA 1 5.514 . missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 1 tolerated(0.15) probably_damaging(0.936) NA CAT A,G 8.274e-06 4:86811052 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 3.173826 0.98112 0.95374 0.732398 0.9976488 0 5.056927e-10 FALSE 1.21936e-05 ENSE00001417450_008 ENSE00001417450 008 4 87732140 87732309 + 59 63 48 G A 87732211 868 72 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTAATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811057 86811058 86811058 exon 13 0.2063492 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTAATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 219 1213 1 0.9999686 0.9999843 NA NA 0.9436644 0.9723031 NA NA 0.05633562 0.02766548 NA 0.9579838 NA 0.04200055 NA FALSE NA 1 5.284 . missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 1 tolerated(0.1) benign(0.157) NA TGA G,A 8.274e-06 4:86811058 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 4.891067 0.98343 0.96395 0.732398 0.9952593 0 5.056927e-10 FALSE 4.06451e-06 ENSE00001417450_009 ENSE00001417450 009 4 87732140 87732309 + 59 63 48 C T 87732220 869 81 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGTGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811066 86811067 86811067 exon 22 0.3492063 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGTGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 281 758 0.9983599 0.9997913 0.9990756 NA NA 0.9436644 0.9723031 NA NA 0.05469554 0.02748816 NA 0.9579838 NA 0.04109185 NA FALSE NA 1 2.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:86811067 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 8.081171 0.98769 0.97399 0.732398 0.9991298 0 5.056927e-10 FALSE 5.69073e-05 ENSE00001417450_010 ENSE00001417450 010 4 87732140 87732309 + 59 63 48 C A 87732220 870 81 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGAGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811066 86811067 86811067 exon 22 0.3492063 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGAGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 542 1052 0.9970785 0.9996992 0.9983888 NA NA 0.9436644 0.9723031 NA NA 0.0534141 0.02739607 NA 0.9579838 NA 0.04040509 NA FALSE NA 1 2.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN13 NA NA NA ENSG00000163629 ENSE00001417450 missense_variant 7.64571 0.98674 0.89351 0.732398 0.9981719 0 5.056927e-10 FALSE 4.06481e-06 ENSE00001417450_011 ENSE00001417450 011 4 87732140 87732309 + 59 63 48 G A 87732221 871 82 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCACTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811067 86811068 86811068 exon 23 0.3650794 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCACTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 466 66 0.985139 0.9561663 0.9706526 NA NA 0.9436644 0.9723031 NA NA 0.04147462 -0.01613686 NA 0.9579838 NA 0.01266888 NA FALSE NA 1 6.241 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:86811068 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 6.297776 0.98872 0.97908 0.732398 0.9948014 0 5.056927e-10 FALSE 0.000520279 ENSE00001417450_012 ENSE00001417450 012 4 87732140 87732309 + 59 63 48 G T 87732221 872 82 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCTCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811067 86811068 86811068 exon 23 0.3650794 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCTCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 630 561 0.9953357 1 0.9976679 NA NA 0.9436644 0.9723031 NA NA 0.05167134 0.02769686 NA 0.9579838 NA 0.0396841 NA FALSE NA 1 6.241 NA NA NA PTPN13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN13 NA NA NA ENSG00000163629 ENSE00001417450 missense_variant 7.479921 0.98945 0.99085 0.732398 0.9979193 0 5.056927e-10 FALSE 4.06468e-06 ENSE00001417450_013 ENSE00001417450 013 4 87732140 87732309 + 59 63 48 T C 87732223 873 84 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCCGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811069 86811070 86811070 exon 25 0.3968254 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCCGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 1193 671 1 0.9938218 0.9969109 NA NA 0.9436644 0.9723031 NA NA 0.05633562 0.02151869 NA 0.9579838 NA 0.03892716 NA FALSE NA 0.998 3.576 . missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 rs375849277 1 tolerated(0.05) benign(0.178) NA C:0 C:0.0002 CTG T,C 5.792e-05 4:86811070 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 2.589613 0.98158 0.93773 0.732398 0.9924318 0 5.056927e-10 FALSE 3.25053e-05 ENSE00001417450_014 ENSE00001417450 014 4 87732140 87732309 + 59 63 48 G T 87732228 874 89 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATTAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811074 86811075 86811075 exon 30 0.4761905 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATTAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 245 285 0.9681807 0.9885497 0.9783652 NA NA 0.9436644 0.9723031 NA NA 0.02451634 0.01624654 NA 0.9579838 NA 0.02038144 NA FALSE NA 1 9.422 rs61730643 missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 rs61730643 1 deleterious(0) probably_damaging(0.999) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0003 T:0.0013 TGA G,T 0.0008524 4:86811075 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 6.856026 0.99396 0.99679 0.732398 0.9974233 0 5.056927e-10 FALSE 0.000800371 ENSE00001417450_015 ENSE00001417450 015 4 87732140 87732309 + 59 63 48 A T 87732240 875 101 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGTCACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811086 86811087 86811087 exon -22 0.6666667 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGTCACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 795 339 0.9995851 0.9856377 0.9926114 NA NA 0.9436644 0.9723031 NA NA 0.05592076 0.01333458 NA 0.9579838 NA 0.03462767 NA FALSE NA 0.847 0.115 . missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 1 deleterious(0) probably_damaging(0.999) NA GAC A,T 8.276e-06 4:86811087 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 5.687798 0.96235 0.84704 0.732398 0.9963569 0 5.056927e-10 FALSE 4.06365e-06 ENSE00001417450_017 ENSE00001417450 017 4 87732140 87732309 + 59 63 48 C T 87732243 877 104 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACATGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811089 86811090 86811090 exon -19 0.7142857 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACATGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 75 268 1 1 1 NA NA 0.9436644 0.9723031 NA NA 0.05633562 0.02769686 NA 0.9579838 NA 0.04201624 NA FALSE NA 0 -2.338 NA NA NA PTPN13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:86811090 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 synonymous_variant 1.779405 0.12371 0.00857 0.732398 0.6239663 0 5.056927e-10 FALSE 1.21923e-05 ENSE00001417450_018 ENSE00001417450 018 4 87732140 87732309 + 59 63 48 G A 87732244 878 105 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACAGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811090 86811091 86811091 exon -18 0.7301587 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACAGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 2258 199 0.8191751 1 0.9095875 NA NA 0.9436644 0.9723031 NA NA -0.1244893 0.02769686 NA 0.9579838 NA -0.04839623 NA FALSE NA 1 9.422 . missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 rs373015271 1 deleterious(0) probably_damaging(1) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0003 A:0 CGG G,A 3.31e-05 4:86811091 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 7.894763 0.99371 0.99631 0.732398 0.9992485 0 5.056927e-10 FALSE 1.21931e-05 ENSE00001417450_019 ENSE00001417450 019 4 87732140 87732309 + 59 63 48 G A 87732249 879 110 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATAGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811095 86811096 86811096 exon -13 0.8095238 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATAGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 317 2052 1 0.9998515 0.9999257 NA NA 0.9436644 0.9723031 NA NA 0.05633562 0.02754835 NA 0.9579838 NA 0.04194199 NA FALSE NA 1 9.422 . missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 1 deleterious(0) probably_damaging(0.989) NA TGG G,A 8.277e-06 4:86811096 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 7.047654 0.99374 0.99631 0.732398 0.9975664 0 5.056927e-10 FALSE 4.0654e-06 ENSE00001417450_020 ENSE00001417450 020 4 87732140 87732309 + 59 63 48 T C 87732252 880 113 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTCCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811098 86811099 86811099 exon -10 0.8571429 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTCCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 634 1105 0.9965986 0.9998568 0.9982277 NA NA 0.9436644 0.9723031 NA NA 0.05293427 0.02755371 NA 0.9579838 NA 0.04024399 NA FALSE NA 0.211 -0.48 . synonymous_variant LOW PTPN13 HGNC 9646 ENST00000411767 47/48 1 NA TTC T,C 8.277e-06 4:86811099 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 synonymous_variant 0.637905 0.46958 0.18685 0.732398 0.7185563 0 5.056927e-10 FALSE NA ENSE00001417450_021 ENSE00001417450 021 4 87732140 87732309 + 59 63 48 C A 87732257 881 118 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGAAAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811103 86811104 86811104 exon -5 0.9365079 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGAAAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 224 1322 0.9979413 0.9871028 0.992522 NA NA 0.9436644 0.9723031 NA NA 0.05427689 0.01479964 NA 0.9579838 NA 0.03453826 NA FALSE NA 1 7.445 . missense_variant MODERATE PTPN13 HGNC 9646 ENST00000411767 47/48 1 deleterious(0) probably_damaging(0.998) NA ACA C,A 8.277e-06 4:86811104 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 missense_variant 7.55324 0.99384 0.99495 0.732398 0.9930928 0 5.056927e-10 FALSE 4.06616e-06 ENSE00001417450_022 ENSE00001417450 022 4 87732140 87732309 + 59 63 48 G C 87732272 882 133 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGCCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811118 86811119 86811119 downstr_intron 11 1.234043 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGCCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 618 140 1 1 1 NA NA 0.9436644 0.9723031 NA NA 0.05633562 0.02769686 NA 0.9579838 NA 0.04201624 NA FALSE NA 0 -0.178 . intron_variant MODIFIER PTPN13 HGNC 9646 ENST00000411767 47/47 1 NA GGC G,C 8.278e-06 4:86811119 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 intron_variant -0.007227 0.20185 0.07947 0.088506 0.6484764 0.0741517 5.056927e-10 FALSE 8.2054e-06 ENSE00001417450_023 ENSE00001417450 023 4 87732140 87732309 + 59 63 48 T A 87732280 883 141 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCACCTAATGAGAATTTTTGTAAAGATTCTAA 86810986 86811156 86811126 86811127 86811127 downstr_intron 19 1.404255 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCACCTAATGAGAATTTTTGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 498 1049 0.9639668 0.9999637 0.9819653 NA NA 0.9436644 0.9723031 NA NA 0.02030241 0.02766057 NA 0.9579838 NA 0.02398149 NA FALSE NA 0.065 0.806 . intron_variant MODIFIER PTPN13 HGNC 9646 ENST00000411767 47/47 1 NA CTC T,A 8.279e-06 4:86811127 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 intron_variant 0.831661 0.26774 0.11697 0.088506 0.6767409 0.0497579 5.056927e-10 FALSE 4.18582e-06 ENSE00001417450_024 ENSE00001417450 024 4 87732140 87732309 + 59 63 48 T G 87732296 884 157 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTGGTAAAGATTCTAA 86810986 86811156 86811142 86811143 86811143 downstr_intron 35 1.744681 TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTGGTAAAGATTCTAA TTTGAGATTCAAATCCAGTTATCCTTTGAATCTAACACATATGTGGTTTCCTCTGACAGTTTGACATCTCTGATTTGGTGCGCTGCATGAGACTACAAAGACACGGAATGGTTCAGACAGAGGTGAGTCATGGCTGGGCCTCCTAATGAGAATTTTTGTAAAGATTCTAA mutant NA NA NA NA NA 352 478 0.9934043 1 0.9967021 NA NA 0.9436644 0.9723031 NA NA 0.0497399 0.02769686 NA 0.9579838 NA 0.03871838 NA FALSE NA 0 0.025 . intron_variant MODIFIER PTPN13 HGNC 9646 ENST00000411767 47/47 1 NA TTG T,G 8.28e-06 4:86811143 PTPN13 HGNC Symbol protein_coding 220856 ENSG00000163629 ENSE00001417450 intron_variant 0.181449 0.14153 0.07322 0.088506 0.5886749 0.0476782 5.056927e-10 FALSE 4.28233e-06 ENSE00001417912_000 ENSE00001417912 000 14 105423717 105423886 - 30 99 41 NA NA NA NA NA TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 NA NA NA NA NA NA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA natural 63 94 0.9806787 0.9727932 0.9767359 1660 2921 0.8706794 0.8468718 0.8587756 0.9806787 0.9727932 0.8706794 0.8468718 0 0 0 0 0.9767359 0.8587756 0 0 0 FALSE FALSE NA NA NA NA NA AHNAK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AHNAK2 NA NA NA ENSG00000185567 ENSE00003573678 NA NA NA NA NA NA NA NA NA NA ENSE00001417912_001 ENSE00001417912 001 14 105423717 105423886 - 30 99 41 T G 105423748 1830 139 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCGGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957410 104957411 104957411 exon -2 0.989899 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCCGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 13 59 1 0.8998176 0.9499088 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1293206 0.05294586 0.9767359 0.8587756 NA 0.09113323 NA FALSE NA 0.935 -0.169 . missense_variant&splice_region_variant MODERATE AHNAK2 HGNC 20125 ENST00000333244 3/7 rs374069856 1 possibly_damaging(0.526) NA G:0 G:0.0001 CTG T,G 3.315e-05 14:104957411 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 missense_variant 1.884268 0.93741 0.3937 0.706548 0.9900154 0 NA NA 2.60168e-05 ENSE00001417912_003 ENSE00001417912 003 14 105423717 105423886 - 30 99 41 G A 105423766 1832 121 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAACCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957428 104957429 104957429 exon -20 0.8080808 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGTTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 868 330 0.9912671 0.9940215 0.9926443 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1205877 0.1471497 0.9767359 0.8587756 NA 0.1338687 NA FALSE NA 0.015 0.242 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:104957429 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 missense_variant 1.417978 0.19506 0.03778 0.706548 0.9696292 0 NA NA NA ENSE00001417912_004 ENSE00001417912 004 14 105423717 105423886 - 30 99 41 G C 105423766 1833 121 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCACCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957428 104957429 104957429 exon -20 0.8080808 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGGTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 134 298 0.8376703 0.9809572 0.9093137 0.9806787 0.9727932 0.8706794 0.8468718 NA NA -0.03300913 0.1340854 0.9767359 0.8587756 NA 0.05053814 NA FALSE NA 0.015 0.242 NA NA NA AHNAK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AHNAK2 NA NA NA ENSG00000185567 ENSE00003573678 missense_variant -0.199355 0.14166 0.00069 0.706548 0.6033395 0 NA NA NA ENSE00001417912_006 ENSE00001417912 006 14 105423717 105423886 - 30 99 41 C T 105423774 1835 113 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTTGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957436 104957437 104957437 exon -28 0.7272727 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACAACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 72 92 1 1 1 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1293206 0.1531282 0.9767359 0.8587756 NA 0.1412244 NA FALSE NA 0 -5.626 . synonymous_variant LOW AHNAK2 HGNC 20125 ENST00000333244 3/7 rs373178372 1 NA T:0 T:0.0001 TCG C,T 4.142e-05 14:104957437 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 synonymous_variant 1.194367 0.08393 0.00219 0.706548 0.5926566 0 NA NA 2.52232e-05 ENSE00001417912_011 ENSE00001417912 011 14 105423717 105423886 - 30 99 41 C T 105423804 1840 83 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGTGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957466 104957467 104957467 exon 42 0.4242424 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCACAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 28 737 0.9985209 1 0.9992604 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1278415 0.1531282 0.9767359 0.8587756 NA 0.1404849 NA FALSE NA 0.835 -0.761 rs45455498 synonymous_variant LOW AHNAK2 HGNC 20125 ENST00000333244 3/7 rs45455498 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0008 T:0.0018 GCG C,T 0.0008295 14:104957467 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 synonymous_variant 1.485598 0.88096 0.04188 0.706548 0.8623682 0 NA NA 0.000989856 ENSE00001417912_012 ENSE00001417912 012 14 105423717 105423886 - 30 99 41 C T 105423808 1841 79 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCTGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957470 104957471 104957471 exon 38 0.3838384 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACAGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 244 121 1 1 1 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1293206 0.1531282 0.9767359 0.8587756 NA 0.1412244 NA FALSE NA 0.735 0.865 . missense_variant MODERATE AHNAK2 HGNC 20125 ENST00000333244 3/7 1 possibly_damaging(0.739) NA CCG C,T 3.318e-05 14:104957471 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 missense_variant 3.962155 0.9476 0.6385 0.706548 0.9464805 0 NA NA 1.6895e-05 ENSE00001417912_014 ENSE00001417912 014 14 105423717 105423886 - 30 99 41 G C 105423812 1843 75 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGCTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957474 104957475 104957475 exon 34 0.3434343 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGAGCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 392 126 0.9990513 1 0.9995257 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1283719 0.1531282 0.9767359 0.8587756 NA 0.1407501 NA FALSE NA 1 3.559 . missense_variant MODERATE AHNAK2 HGNC 20125 ENST00000333244 3/7 1 possibly_damaging(0.618) NA GGT G,C 1.659e-05 14:104957475 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 missense_variant 3.231483 0.91583 0.77109 0.706548 0.9466225 0 NA NA 2.5471e-05 ENSE00001417912_015 ENSE00001417912 015 14 105423717 105423886 - 30 99 41 C T 105423814 1844 73 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTTGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957476 104957477 104957477 exon 32 0.3232323 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCAACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 539 84 1 1 1 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1293206 0.1531282 0.9767359 0.8587756 NA 0.1412244 NA FALSE NA 0.996 2.801 . missense_variant MODERATE AHNAK2 HGNC 20125 ENST00000333244 3/7 rs373841247 1 possibly_damaging(0.861) NA T:0.0003 T:0 TCG C,T 8.296e-06 14:104957477 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 missense_variant 5.705276 0.92759 0.55355 0.706548 0.9980463 0 NA NA NA ENSE00001417912_020 ENSE00001417912 020 14 105423717 105423886 - 30 99 41 C T 105423835 1849 52 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCTCTTCAGTCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957497 104957498 104957498 exon 11 0.1111111 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGAGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 125 785 0.9987718 0.9941004 0.9964361 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1280924 0.1472286 0.9767359 0.8587756 NA 0.1376605 NA FALSE NA 0.163 0.569 . missense_variant MODERATE AHNAK2 HGNC 20125 ENST00000333244 3/7 rs200550931 1 benign(0.443) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 CCC C,T 8.299e-06 14:104957498 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 missense_variant 0.986066 0.60701 0.07598 0.706548 0.9854023 0 NA NA NA ENSE00001417912_022 ENSE00001417912 022 14 105423717 105423886 - 30 99 41 G A 105423841 1851 46 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAATCACCTGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957503 104957504 104957504 exon 5 0.05050505 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGATTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 952 737 0.9982579 1 0.999129 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1275785 0.1531282 0.9767359 0.8587756 NA 0.1403534 NA FALSE NA 0.694 0.75 . missense_variant MODERATE AHNAK2 HGNC 20125 ENST00000333244 3/7 1 benign(0.421) NA AGT G,A 8.3e-06 14:104957504 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 missense_variant 2.418555 0.67377 0.15968 0.706548 0.9958517 0 NA NA NA ENSE00001417912_024 ENSE00001417912 024 14 105423717 105423886 - 30 99 41 G A 105423851 1853 36 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACAGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957513 104957514 104957514 upstr_intron -6 -0.1219512 GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCTGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 192 28 1 1 1 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1293206 0.1531282 0.9767359 0.8587756 NA 0.1412244 NA FALSE NA 0.013 0.484 . splice_region_variant&intron_variant LOW AHNAK2 HGNC 20125 ENST00000333244 2/6 1 NA CGG G,A 1.66e-05 14:104957514 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 splice_region_variant -0.07088 0.05006 4e-04 0.062308 0.6567882 0.147573 NA NA 9.25352e-06 ENSE00001417912_025 ENSE00001417912 025 14 105423717 105423886 - 30 99 41 G C 105423857 1854 30 TGCCTGTGGGGCTCTGCCCAGCAGGCTCACCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACCTGACGGGAGACAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 104957519 104957520 104957520 upstr_intron -12 -0.2682927 GAGAACCGAGTGGCAAAAATAACTGGATTGTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA mutant NA NA NA NA NA 23 168 1 1 1 0.9806787 0.9727932 0.8706794 0.8468718 NA NA 0.1293206 0.1531282 0.9767359 0.8587756 NA 0.1412244 NA FALSE NA 0.077 0.728 . intron_variant MODIFIER AHNAK2 HGNC 20125 ENST00000333244 2/6 1 NA AGA G,C 8.304e-06 14:104957520 AHNAK2 HGNC Symbol protein_coding 41113 ENSG00000185567 ENSE00003573678 intron_variant -0.23549 0.14105 0.10288 0.062308 0.575827 0.147573 NA NA 4.67421e-06 ENSE00001417912_BRK ENSE00001417912 BRK 14 105423717 105423886 - 30 99 41 A,G; T,T NA NA NA TGCCTGTGGGGCTCTGCCCAGCAGGCTCGGCTGGAGTCCAAAGTCGGCAGCCTCAGTCGTGTATTCGTAGACAGGTGAAGACCCCTGCGGCCGTGGTCGAATGCCCTCATCCGCAGGCCCTTCAGTCACAAGACGGGAGAGAATCCAGTTATTTTTGCCACTCGGTTCTC 104957379 104957549 NA NA NA NA NA NA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCTTGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGCCGAGCCTGCTGGGCAGAGCCCCACAGGCA GAGAACCGAGTGGCAAAAATAACTGGATTCTCTCCCGTCAGGTGACTGAAGGGCCTGCGGATGAGGGCATTCGACCACGGCCGCAGGGGTCTTCACCTGTCTACGAATACACGACTGAGGCTGCCGACTTTGGACTCCAGGTGAGCCTGCTGGGCAGAGCCCCACAGGCA control NA NA NA NA NA 317 417 0.05590119 0 0.02795059 0.9806787 0.9727932 0.8706794 0.8468718 NA NA -0.8147782 -0.8468718 0.9767359 0.8587756 NA -0.830825 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AHNAK2 NA NA NA ENSG00000185567 ENSE00003573678 NA NA NA NA NA NA NA NA NA NA ENSE00001419814_000 ENSE00001419814 000 2 189853253 189853422 + 63 54 53 NA NA NA NA NA GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT 188988526 188988696 NA NA NA NA NA NA GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT natural 132 180 0.85 0.85 0.85 4575 3482 0.8167631 0.8841624 0.8504628 0.85 0.85 0.8167631 0.8841624 0 0 0 0 0.85 0.8504628 0 0 0 FALSE FALSE NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001419814 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001419814_010 ENSE00001419814 010 2 189853253 189853422 + 63 54 53 T C 189853342 3404 90 AGGTTCCATATGGAATTATCGACTTACTAAATATAAATTTAATTGTTACTTACTGAAGGACCAGCTTGCCCAGGTTCACCGGGGGGTCCTTGGTATCCTGGAGATCCCTAGTGAGTAGAATATGTAAATAATTTTAAAGTAACAAAATCTTCATATAATTCATTTACATC 188988526 188988696 188988615 188988616 188988616 exon 27 0.5 GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCCGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT mutant NA NA NA NA NA 19 31 0.8 0.8 0.8 0.85 0.85 0.8167631 0.8841624 NA NA -0.01676314 -0.08416237 0.85 0.8504628 NA -0.05046276 NA FALSE NA 0.928 -0.151 . synonymous_variant LOW COL3A1 HGNC 2201 ENST00000317840 7/42 rs560255534 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTG T,C 1.648e-05 2:188988616 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001419814 synonymous_variant 0.826264 0.96824 0.78489 0.487112 0.7479549 0 1 TRUE 1.22377e-05 ENSE00001419814_016 ENSE00001419814 016 2 189853253 189853422 + 63 54 53 G A 189853396 3410 144 AGGTTCCATATGGAATTATCGACTTATTAAATATAAATTTAATTGTTACTTACTGAAGGACCAGCTTGCCCAGGTTCACCAGGGGGTCCTTGGTATCCTGGAGATCCCTAGTGAGTAGAATATGTAAATAATTTTAAAGTAACAAAATCTTCATATAATTCATTTACATC 188988526 188988696 188988669 188988670 188988670 downstr_intron 27 1.519231 GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAATAAGTCGATAATTCCATATGGAACCT GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT mutant NA NA NA NA NA 524 801 0.9589799 0.9452318 0.9521058 0.85 0.85 0.8167631 0.8841624 NA NA 0.1422167 0.06106938 0.85 0.8504628 NA 0.1016431 NA FALSE NA 0 -0.246 . intron_variant MODIFIER COL3A1 HGNC 2201 ENST00000317840 7/41 1 NA AGT G,A 8.246e-06 2:188988670 COL3A1 HGNC Symbol protein_coding 38426 ENSG00000168542 ENSE00001419814 intron_variant -0.068031 0.20191 0.00166 0.061011 0.5334212 0.0656782 1 TRUE 4.21116e-06 ENSE00001419814_BRK ENSE00001419814 BRK 2 189853253 189853422 + 63 54 53 A,G; T,T NA NA NA GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTTTGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCACCAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT 188988526 188988696 NA NA NA NA NA NA GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTTTGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCACCAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT GATGTAAATGAATTATATGAAGATTTTGTTACTTTAAAATTATTTACATATTCTACTCACTAGGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGTAAGTAACAATTAAATTTATATTTAGTAAGTCGATAATTCCATATGGAACCT control NA NA NA NA NA 323 147 0.02031707 0.002183739 0.01125041 0.85 0.85 0.8167631 0.8841624 NA NA -0.7964461 -0.8819786 0.85 0.8504628 NA -0.8392123 NA TRUE NA NA NA NA NA NA COL3A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL3A1 NA NA NA ENSG00000168542 ENSE00001419814 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001420883_000 ENSE00001420883 000 12 9013424 9013593 + 53 75 42 NA NA NA NA NA TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT 8860827 8860997 NA NA NA NA NA NA TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT natural NA NA NA NA NA 725 854 0.9770342 0.8828398 0.929937 NA NA 0.9770342 0.8828398 NA NA 0 0 NA 0.929937 NA 0 NA FALSE NA NA NA NA NA NA A2ML1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA A2ML1 NA NA NA ENSG00000166535 ENSE00001420883 NA NA NA NA NA NA NA 1.329022e-22 FALSE NA ENSE00001421660_000 ENSE00001421660 000 7 94051148 94051317 + 63 54 53 NA NA NA NA NA CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 NA NA NA NA NA NA CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC natural 55 87 0.85 0.8595801 0.8547901 1063 1616 0.9591317 0.9742846 0.9667081 0.85 0.8595801 0.9591317 0.9742846 0 0 0 0 0.8547901 0.9667081 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003531447 NA NA NA NA NA NA NA 0.9997549 TRUE NA ENSE00001421660_001 ENSE00001421660 001 7 94051148 94051317 + 63 54 53 G A 94051179 1895 32 CCATCTTACCCAAATTCTTGGAGTTGATGTTAACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421866 94421867 94421867 upstr_intron -32 -0.4920635 CCATCTTACCCAAATTCTTGGAGTTGATGTTAACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 225 850 0.9955259 0.9958844 0.9957051 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.03639421 0.02159975 0.8547901 0.9667081 NA 0.02899698 NA FALSE NA 0.167 -0.181 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TGA G,A 8.236e-06 7:94421867 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 intron_variant 2.158218 0.91032 0.22275 0.156188 0.826913 0.481844 0.9997549 TRUE 4.0623e-06 ENSE00001421660_002 ENSE00001421660 002 7 94051148 94051317 + 63 54 53 G A 94051183 1896 36 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTATGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421870 94421871 94421871 upstr_intron -28 -0.4285714 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTATGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 550 518 0.8005227 0.9990392 0.8997809 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.1586089 0.02475452 0.8547901 0.9667081 NA -0.0669272 NA FALSE NA 0.014 0.15 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TGT G,A 8.236e-06 7:94421871 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 intron_variant 2.15577 0.24825 0.10572 0.156188 0.8611923 0.344582 0.9997549 TRUE 4.06197e-06 ENSE00001421660_003 ENSE00001421660 003 7 94051148 94051317 + 63 54 53 G A 94051185 1897 38 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTAGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421872 94421873 94421873 upstr_intron -26 -0.3968254 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTAGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 204 131 0.9283313 0.9752598 0.9517955 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.03080036 0.0009751653 0.8547901 0.9667081 NA -0.0149126 NA FALSE NA 0 0.106 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TGG G,A 8.236e-06 7:94421873 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 intron_variant 2.284068 0.25569 0.03241 0.156188 0.8520449 0.344582 0.9997549 TRUE 4.0619e-06 ENSE00001421660_004 ENSE00001421660 004 7 94051148 94051317 + 63 54 53 G A 94051186 1898 39 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGAAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421873 94421874 94421874 upstr_intron -25 -0.3809524 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGAAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 521 1100 0.98099 0.9291334 0.9550617 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.02185836 -0.04515119 0.8547901 0.9667081 NA -0.01164641 NA FALSE NA 0 -0.215 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs568518937 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGA G,A 5.765e-05 7:94421874 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 intron_variant 2.359148 0.43132 0.09225 0.156188 0.867276 0.42766 0.9997549 TRUE 5.68643e-05 ENSE00001421660_006 ENSE00001421660 006 7 94051148 94051317 + 63 54 53 T C 94051197 1900 50 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGCGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421884 94421885 94421885 upstr_intron -14 -0.2063492 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGCGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 817 146 0 0.008250663 0.004125332 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.9591317 -0.966034 0.8547901 0.9667081 NA -0.9625828 NA TRUE NA 0.042 5.04 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA GTG T,C 8.236e-06 7:94421885 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 intron_variant 2.1367 0.8647 0.61443 0.156188 0.8583237 0.540694 0.9997549 TRUE 4.06144e-06 ENSE00001421660_008 ENSE00001421660 008 7 94051148 94051317 + 63 54 53 C T 94051199 1902 52 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGTTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421886 94421887 94421887 upstr_intron -12 -0.1746032 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGTTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 54 664 1 1 1 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.04086833 0.02571537 0.8547901 0.9667081 NA 0.03329185 NA FALSE NA 0.027 0.363 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs527834283 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 GCT C,T 3.295e-05 7:94421887 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 intron_variant 2.22133 0.80628 0.12258 0.156188 0.7461113 0.549 0.9997549 TRUE 2.84292e-05 ENSE00001421660_010 ENSE00001421660 010 7 94051148 94051317 + 63 54 53 C A 94051204 1904 57 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGATCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421891 94421892 94421892 upstr_intron -7 -0.0952381 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGATCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 742 173 0.9893244 0.9695351 0.9794297 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.03019271 -0.00474952 0.8547901 0.9667081 NA 0.0127216 NA FALSE NA 0.002 -0.684 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA GCT C,A 8.236e-06 7:94421892 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 splice_region_variant 1.391464 0.67536 0.30567 0.163922 0.6791335 0.540437 0.9997549 TRUE 4.06134e-06 ENSE00001421660_011 ENSE00001421660 011 7 94051148 94051317 + 63 54 53 A G 94051214 1905 67 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTGTGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421901 94421902 94421902 exon 4 0.07407407 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTGTGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 912 154 0.9745595 0.920552 0.9475558 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.01542785 -0.05373264 0.8547901 0.9667081 NA -0.0191524 NA FALSE NA 0.382 -0.111 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 COSM485754 1 NA TAT A,G 8.236e-06 7:94421902 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 missense_variant 0.285484 0.2857 0.03026 0.732398 0.7467178 0 0.9997549 TRUE 4.06118e-06 ENSE00001421660_012 ENSE00001421660 012 7 94051148 94051317 + 63 54 53 A C 94051217 1906 70 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGCCTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421904 94421905 94421905 exon 7 0.1296296 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGCCTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 1231 101 0.9932171 0.9731845 0.9832008 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.03408547 -0.001100136 0.8547901 0.9667081 NA 0.01649267 NA FALSE NA 1 4.45 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA GAC A,C 8.236e-06 7:94421905 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 missense_variant 2.304135 0.95552 0.97017 0.732398 0.99509 0 0.9997549 TRUE 4.06105e-06 ENSE00001421660_013 ENSE00001421660 013 7 94051148 94051317 + 63 54 53 C T 94051241 1907 94 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGATGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421928 94421929 94421929 exon -24 0.5740741 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGATGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 389 196 0.8004142 0.9844417 0.8924279 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.1587175 0.01015705 0.8547901 0.9667081 NA -0.07428023 NA FALSE NA 0.57 1.593 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 COSM3394948 1 NA ACG C,T 8.236e-06 7:94421929 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 missense_variant 5.716714 0.93028 0.85327 0.732398 0.9992309 0 0.9997549 TRUE 1.21859e-05 ENSE00001421660_014 ENSE00001421660 014 7 94051148 94051317 + 63 54 53 G A 94051243 1908 96 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGAACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421930 94421931 94421931 exon -22 0.6111111 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGAACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 202 131 0.9377121 0.9476222 0.9426672 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.02141953 -0.02666243 0.8547901 0.9667081 NA -0.02404098 NA FALSE NA 1 1.695 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94421931 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 synonymous_variant 0.493904 0.92543 0.51586 0.732398 0.5948958 0 0.9997549 TRUE 4.87424e-05 ENSE00001421660_016 ENSE00001421660 016 7 94051148 94051317 + 63 54 53 T G 94051246 1910 99 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACGGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421933 94421934 94421934 exon -19 0.6666667 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACGGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 82 1062 0 0.08552728 0.04276364 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.9591317 -0.8887574 0.8547901 0.9667081 NA -0.9239445 NA TRUE NA 0.998 0.289 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA CTG T,G 8.236e-06 7:94421934 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 synonymous_variant 0.454153 0.91273 0.87411 0.732398 0.671317 0 0.9997549 TRUE 1.6247e-05 ENSE00001421660_017 ENSE00001421660 017 7 94051148 94051317 + 63 54 53 T C 94051249 1911 102 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGCCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421936 94421937 94421937 exon -16 0.7222222 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGCCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 392 593 0.9975601 0.7983878 0.8979739 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.0384284 -0.1758969 0.8547901 0.9667081 NA -0.06873424 NA FALSE NA 0.384 -1.172 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs370623514 1 NA C:0.0005 C:0 GTC T,C 1.647e-05 7:94421937 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 synonymous_variant -0.150537 0.86278 0.36633 0.732398 0.7464099 0 0.9997549 TRUE 1.21861e-05 ENSE00001421660_019 ENSE00001421660 019 7 94051148 94051317 + 63 54 53 C T 94051261 1913 114 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCTTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421948 94421949 94421949 exon -4 0.9444444 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCTTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 404 2514 0.957416 0.8210591 0.8892375 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.001715685 -0.1532256 0.8547901 0.9667081 NA -0.07747063 NA FALSE NA 0 -0.871 rs139913150 upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs139913150 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0001 CCT C,T 0.0001812 7:94421949 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 synonymous_variant 1.250795 0.91049 0.2274 0.732398 0.6529505 0 0.9997549 TRUE 0.000211295 ENSE00001421660_020 ENSE00001421660 020 7 94051148 94051317 + 63 54 53 A G 94051267 1914 120 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTGAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421954 94421955 94421955 downstr_intron 3 1.057692 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTGAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 1780 60 0.8 0.8 0.8 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.1591317 -0.1742846 0.8547901 0.9667081 NA -0.1667081 NA FALSE NA 1 0.919 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA TAA A,G 8.237e-06 7:94421955 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 splice_region_variant 1.21927 0.90568 0.75779 0.163922 0.8029724 0.401847 0.9997549 TRUE 4.06388e-06 ENSE00001421660_022 ENSE00001421660 022 7 94051148 94051317 + 63 54 53 T C 94051274 1916 127 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAACCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421961 94421962 94421962 downstr_intron 10 1.192308 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAACCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 229 579 0.9815753 0.9924262 0.9870007 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.02244363 0.01814156 0.8547901 0.9667081 NA 0.0202926 NA FALSE NA 0.878 0.641 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 rs571060680 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATC T,C 2.471e-05 7:94421962 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 non_coding_transcript_exon_variant 0.408265 0.27479 0.10273 0.106106 0.5316199 0.330443 0.9997549 TRUE 1.21963e-05 ENSE00001421660_023 ENSE00001421660 023 7 94051148 94051317 + 63 54 53 C G 94051275 1917 128 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATGACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421962 94421963 94421963 downstr_intron 11 1.211538 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATGACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 325 911 0.9282743 0.9526103 0.9404423 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.03085737 -0.02167437 0.8547901 0.9667081 NA -0.02626587 NA FALSE NA 0.609 0.324 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94421963 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 non_coding_transcript_exon_variant 0.352063 0.28488 0.08093 0.106106 0.4787468 0.320438 0.9997549 TRUE 2.84634e-05 ENSE00001421660_024 ENSE00001421660 024 7 94051148 94051317 + 63 54 53 C T 94051275 1918 128 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATTACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421962 94421963 94421963 downstr_intron 11 1.211538 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATTACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 1050 166 0.9545539 0.9636212 0.9590875 0.85 0.8595801 0.9591317 0.9742846 NA NA -0.004577795 -0.01066345 0.8547901 0.9667081 NA -0.007620623 NA FALSE NA 0.609 0.324 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003531447 non_coding_transcript_exon_variant 0.466329 0.28199 0.07701 0.106106 0.5649948 0.320438 0.9997549 TRUE NA ENSE00001421660_025 ENSE00001421660 025 7 94051148 94051317 + 63 54 53 A T 94051283 1919 136 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAATCGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421970 94421971 94421971 downstr_intron 19 1.365385 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAATCGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 1392 633 0.984011 0.9649809 0.9744959 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.02487928 -0.009303743 0.8547901 0.9667081 NA 0.00778777 NA FALSE NA 0 1.201 . upstream_gene_variant MODIFIER COL1A2 HGNC 2198 ENST00000469732 1 NA AAC A,T 2.471e-05 7:94421971 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 non_coding_transcript_exon_variant -0.465878 0.28735 0.20257 0.106106 0.4130479 0.141973 0.9997549 TRUE 8.1487e-06 ENSE00001421660_026 ENSE00001421660 026 7 94051148 94051317 + 63 54 53 C T 94051284 1920 137 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAATGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421971 94421972 94421972 downstr_intron 20 1.384615 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAATGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 2054 556 0.9689768 0.9875594 0.9782681 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.009845152 0.01327474 0.8547901 0.9667081 NA 0.01155995 NA FALSE NA 0 -0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94421972 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 non_coding_transcript_exon_variant -0.642084 0.24751 0.05029 0.106106 0.4136097 0.141973 0.9997549 TRUE 2.03754e-05 ENSE00001421660_027 ENSE00001421660 027 7 94051148 94051317 + 63 54 53 C A 94051284 1921 137 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAAAGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421971 94421972 94421972 downstr_intron 20 1.384615 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAAAGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 511 60 0.9982964 0.9661649 0.9822307 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.03916471 -0.008119698 0.8547901 0.9667081 NA 0.01552251 NA FALSE NA 0 -0.318 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003531447 non_coding_transcript_exon_variant -0.549056 0.24513 0.06243 0.106106 0.4098182 0.141973 0.9997549 TRUE 8.15016e-06 ENSE00001421660_028 ENSE00001421660 028 7 94051148 94051317 + 63 54 53 G A 94051285 1922 138 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACATGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421972 94421973 94421973 downstr_intron 21 1.403846 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACATGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 1033 139 0.9669428 0.9652738 0.9661083 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.007811134 -0.009010813 0.8547901 0.9667081 NA -0.0005998393 NA FALSE NA 0 -1.59 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:94421973 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00003531447 non_coding_transcript_exon_variant -0.541465 0.21029 0.01352 0.106106 0.3965223 0.141973 0.9997549 TRUE 8.15275e-05 ENSE00001421660_029 ENSE00001421660 029 7 94051148 94051317 + 63 54 53 G C 94051285 1923 138 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACCTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 94421972 94421973 94421973 downstr_intron 21 1.403846 CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACCTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC mutant NA NA NA NA NA 381 1634 0.9629326 0.9745566 0.9687446 0.85 0.8595801 0.9591317 0.9742846 NA NA 0.003800917 0.0002720167 0.8547901 0.9667081 NA 0.002036467 NA FALSE NA 0 -1.59 NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003531447 non_coding_transcript_exon_variant -0.992237 0.22096 0.04671 0.106106 0.328859 0.141973 0.9997549 TRUE 6.92984e-05 ENSE00001421660_BRK ENSE00001421660 BRK 7 94051148 94051317 + 63 54 53 A,G; T,T NA NA NA CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTTTGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTCCAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC 94421835 94422005 NA NA NA NA NA NA CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTTTGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTCCAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC CCATCTTACCCAAATTCTTGGAGTTGATGTTGACTGTGGAATTCTAATGTGCTTGGCTCTTAGGGTATGACTGGTTTCCCTGGTGCTGCTGGACGGACTGGTCCCCCAGGACCCTCTGTAAGTAAATCACTGTAAACGTGTCTTCATTTACTCTAGCCAAAAGGCCTGGC control 20 13 0 0 0 NA NA NA NA NA 0.85 0.8595801 0.9591317 0.9742846 -0.85 -0.8595801 NA NA 0.8547901 0.9667081 -0.8547901 NA NA NA TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00003531447 NA NA NA NA NA NA NA 0.9997549 TRUE NA ENSE00001421810_000 ENSE00001421810 000 8 68930027 68930196 + 54 72 44 NA NA NA NA NA TAGGAAACTCATGCTCAGGTTGAAGGCCAGTTGTACCTCCTCACCTTCACTGTTTCTTCTGTCACATTTTTGTCAACTTTTGATGCTGCACACTGGTTCATTCTGTGTAAGAATGCCTGCATGAAACAAGAAGACATTATGAAGGTAACATTAGGTTAATAAAATGACTG 68017791 68017961 NA NA NA NA NA NA CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA natural NA NA NA NA NA 1116 872 0.8469707 0.9929249 0.9199478 NA NA 0.8469707 0.9929249 NA NA 0 0 NA 0.9199478 NA 0 NA FALSE NA NA NA NA NA NA PREX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PREX2 NA NA NA ENSG00000046889 ENSE00003518449 NA NA NA NA NA NA NA 1.008073e-10 FALSE NA ENSE00001421810_003 ENSE00001421810 003 8 68930027 68930196 + 54 72 44 C T 68930052 1383 26 TAGGAAACTCATGCTCAGGTTGAAGGCCAGTTGTACCTCCTCACCTTCACTGTTTCTTCTGTCACATTTTTGTCAACTTTTGATGCTGCACACTGGTTCATTCTGTGTAAGAATGCCTGCATGAAACAAGAAGACATTATGAAGATAACATTAGGTTAATAAAATGACTG 68017791 68017961 68017816 68017817 68017817 upstr_intron -29 -0.5185185 CAGTCATTTTATTAACCTAATGTTATCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA mutant NA NA NA NA NA 444 136 1 1 1 NA NA 0.8469707 0.9929249 NA NA 0.1530293 0.007075092 NA 0.9199478 NA 0.08005221 NA FALSE NA 0 -0.483 . intron_variant&non_coding_transcript_variant MODIFIER PREX2 HGNC 22950 ENST00000517617 1/23 rs557021246 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACC C,T 2.472e-05 8:68017817 PREX2 HGNC Symbol protein_coding 284912 ENSG00000046889 ENSE00003518449 intron_variant -0.214435 0.11522 0.0201 0.062308 0.2687197 0.100155 1.008073e-10 FALSE 4.26043e-06 ENSE00001421810_006 ENSE00001421810 006 8 68930027 68930196 + 54 72 44 T C 68930069 1386 43 TAGGAAACTCATGCTCAGGTTGAAGGCCAGTTGTACCTCCTCACCTTCACTGTTTCTTCTGTCACATTTTTGTCAACTTTTGATGCTGCACACTGGTTCATTCTGTGTAAGAATGCCTGCATGAAACGAGAAGACATTATGAAGGTAACATTAGGTTAATAAAATGACTG 68017791 68017961 68017833 68017834 68017834 upstr_intron -12 -0.2037037 CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTCGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA mutant NA NA NA NA NA 15 58 1 1 1 NA NA 0.8469707 0.9929249 NA NA 0.1530293 0.007075092 NA 0.9199478 NA 0.08005221 NA FALSE NA 0.598 3.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:68017834 PREX2 HGNC Symbol protein_coding 284912 ENSG00000046889 ENSE00003518449 intron_variant 1.281661 0.94481 0.87909 0.062308 0.8865359 0.915677 1.008073e-10 FALSE 4.1389e-06 ENSE00001421810_015 ENSE00001421810 015 8 68930027 68930196 + 54 72 44 A T 68930137 1395 111 TAGGAAACTCATGCTCAGGTTGAAGGCCAGTTGTACCTCCTCACCTTCACTGTTTCTTCAGTCACATTTTTGTCAACTTTTGATGCTGCACACTGGTTCATTCTGTGTAAGAATGCCTGCATGAAACAAGAAGACATTATGAAGGTAACATTAGGTTAATAAAATGACTG 68017791 68017961 68017901 68017902 68017902 exon -16 0.7916667 CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACTGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA mutant NA NA NA NA NA 80 158 1 1 1 NA NA 0.8469707 0.9929249 NA NA 0.1530293 0.007075092 NA 0.9199478 NA 0.08005221 NA FALSE NA 1 0.754 NA NA NA PREX2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:68017902 PREX2 HGNC Symbol protein_coding 284912 ENSG00000046889 ENSE00003518449 synonymous_variant -0.238798 0.96784 0.71937 0.706548 0.7253128 0 1.008073e-10 FALSE 0 ENSE00001421810_019 ENSE00001421810 019 8 68930027 68930196 + 54 72 44 T G 68930168 1399 142 TAGGAAACTCATGCTCAGGTTGAAGGCCCGTTGTACCTCCTCACCTTCACTGTTTCTTCTGTCACATTTTTGTCAACTTTTGATGCTGCACACTGGTTCATTCTGTGTAAGAATGCCTGCATGAAACAAGAAGACATTATGAAGGTAACATTAGGTTAATAAAATGACTG 68017791 68017961 68017932 68017933 68017933 downstr_intron 16 1.372093 CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACGGGCCTTCAACCTGAGCATGAGTTTCCTA CAGTCATTTTATTAACCTAATGTTACCTTCATAATGTCTTCTTGTTTCATGCAGGCATTCTTACACAGAATGAACCAGTGTGCAGCATCAAAAGTTGACAAAAATGTGACAGAAGAAACAGTGAAGGTGAGGAGGTACAACTGGCCTTCAACCTGAGCATGAGTTTCCTA mutant NA NA NA NA NA 75 682 1 0.9961129 0.9980565 NA NA 0.8469707 0.9929249 NA NA 0.1530293 0.00318801 NA 0.9199478 NA 0.07810867 NA FALSE NA 0 0.259 . intron_variant&non_coding_transcript_variant MODIFIER PREX2 HGNC 22950 ENST00000517617 1/23 1 NA CTG T,G 1.648e-05 8:68017933 PREX2 HGNC Symbol protein_coding 284912 ENSG00000046889 ENSE00003518449 intron_variant -0.008475 0.1606 0.02376 0.099367 0.7373828 0.0455939 1.008073e-10 FALSE 1.69602e-05 ENSE00001422107_000 ENSE00001422107 000 9 137007026 137007195 + 45 90 35 NA NA NA NA NA CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 NA NA NA NA NA NA CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC natural 53 77 0.9983602 0.9982707 0.9983154 2139 4711 0.9996532 0.9977328 0.998693 0.9983602 0.9982707 0.9996532 0.9977328 0 0 0 0 0.9983154 0.998693 0 0 0 FALSE FALSE NA NA NA NA NA WDR5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR5 NA NA NA ENSG00000196363 ENSE00001422107 NA NA NA NA NA NA NA 0.9987022 TRUE NA ENSE00001422107_001 ENSE00001422107 001 9 137007026 137007195 + 45 90 35 T C 137007037 3439 12 CTATTTTGTCCCGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141914 134141915 134141915 upstr_intron -34 -0.7333333 CTATTTTGTCCCGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 133 326 0.9858761 0.99811 0.9919931 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.01377707 0.000377223 0.9983154 0.998693 NA -0.006699923 NA FALSE NA 0 -0.063 . intron_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 5/5 1 NA CTG T,C 8.236e-06 9:134141915 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 intron_variant 0.167177 0.13802 0.02725 0.295142 0.4637252 0.0899975 0.9987022 TRUE NA ENSE00001422107_002 ENSE00001422107 002 9 137007026 137007195 + 45 90 35 C G 137007040 3440 15 CTATTTTGTCCTGTGAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141917 134141918 134141918 upstr_intron -31 -0.6666667 CTATTTTGTCCTGTGAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 132 734 1 1 1 0.9983602 0.9982707 0.9996532 0.9977328 NA NA 0.0003468271 0.002267191 0.9983154 0.998693 NA 0.001307009 NA FALSE NA 0 -0.623 . intron_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 5/5 rs374679294 1 NA G:0 G:0.0003 TCA C,G 5.765e-05 9:134141918 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 intron_variant 0.082409 0.21596 0.05733 0.295142 0.3754497 0.0899975 0.9987022 TRUE 5.69694e-05 ENSE00001422107_003 ENSE00001422107 003 9 137007026 137007195 + 45 90 35 T C 137007044 3441 19 CTATTTTGTCCTGTCAAGCTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141921 134141922 134141922 upstr_intron -27 -0.5777778 CTATTTTGTCCTGTCAAGCTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 347 29 1 1 1 0.9983602 0.9982707 0.9996532 0.9977328 NA NA 0.0003468271 0.002267191 0.9983154 0.998693 NA 0.001307009 NA FALSE NA 0 -1.224 . intron_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 5/5 rs367746758 1 C:0.0008 C:0.003 C:0 NA C:0 C:0 C:0 C:0.0007 C:0 GTT T,C 0.0001565 9:134141922 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 intron_variant -0.013991 0.15095 0.04814 0.295142 0.212194 0.0899975 0.9987022 TRUE 7.31927e-05 ENSE00001422107_005 ENSE00001422107 005 9 137007026 137007195 + 45 90 35 G C 137007049 3443 24 CTATTTTGTCCTGTCAAGTTACTCACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141926 134141927 134141927 upstr_intron -22 -0.4666667 CTATTTTGTCCTGTCAAGTTACTCACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 470 61 1 0.9786736 0.9893368 0.9983602 0.9982707 0.9996532 0.9977328 NA NA 0.0003468271 -0.01905923 0.9983154 0.998693 NA -0.009356202 NA FALSE NA 0 -2.25 . intron_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 5/5 rs376740257 1 NA C:0 C:0.0001 TGA G,C 9.884e-05 9:134141927 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 intron_variant -0.238709 0.1694 0.08486 0.295142 0.4231658 0.0899975 0.9987022 TRUE 9.35096e-05 ENSE00001422107_008 ENSE00001422107 008 9 137007026 137007195 + 45 90 35 C T 137007064 3446 39 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTTCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141941 134141942 134141942 upstr_intron -7 -0.1333333 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTTCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 566 451 0.9809534 0.9959197 0.9884365 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.01869975 -0.001813145 0.9983154 0.998693 NA -0.01025645 NA FALSE NA 0.008 -0.054 . splice_region_variant&intron_variant LOW WDR5 HGNC 12757 ENST00000608739 5/5 1 NA TCC C,T 8.236e-06 9:134141942 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 splice_region_variant 0.503884 0.15122 0.01991 0.295142 0.6036785 0.138722 0.9987022 TRUE 1.22103e-05 ENSE00001422107_009 ENSE00001422107 009 9 137007026 137007195 + 45 90 35 C T 137007066 3447 41 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCTCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141943 134141944 134141944 upstr_intron -5 -0.08888889 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCTCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 688 18 1 1 1 0.9983602 0.9982707 0.9996532 0.9977328 NA NA 0.0003468271 0.002267191 0.9983154 0.998693 NA 0.001307009 NA FALSE NA 0.037 0.848 . splice_region_variant&intron_variant LOW WDR5 HGNC 12757 ENST00000608739 5/5 1 NA CCC C,T 8.236e-06 9:134141944 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 splice_region_variant 2.103502 0.74878 0.17825 0.295142 0.8254528 0.313687 0.9987022 TRUE 4.0705e-06 ENSE00001422107_010 ENSE00001422107 010 9 137007026 137007195 + 45 90 35 C T 137007079 3448 54 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCTGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141956 134141957 134141957 exon 9 0.1 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCTGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 486 15 0.8238918 1 0.9119459 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.1757614 0.002267191 0.9983154 0.998693 NA -0.0867471 NA FALSE NA 0.003 -1.411 . synonymous_variant LOW WDR5 HGNC 12757 ENST00000608739 6/6 rs200619086 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 8.236e-06 9:134141957 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 synonymous_variant 1.939691 0.14045 0.04781 0.706548 0.6865037 0 0.9987022 TRUE 4.06157e-06 ENSE00001422107_013 ENSE00001422107 013 9 137007026 137007195 + 45 90 35 C T 137007088 3451 63 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCTTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141965 134141966 134141966 exon 18 0.2 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCTTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 772 63 0.9944884 1 0.9972442 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.005164796 0.002267191 0.9983154 0.998693 NA -0.001448803 NA FALSE NA 0.992 0.198 . synonymous_variant LOW WDR5 HGNC 12757 ENST00000608739 6/6 1 NA CCT C,T 8.236e-06 9:134141966 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 synonymous_variant 2.104262 0.90469 0.67449 0.706548 0.8329963 0 0.9987022 TRUE NA ENSE00001422107_014 ENSE00001422107 014 9 137007026 137007195 + 45 90 35 G A 137007094 3452 69 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCATCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141971 134141972 134141972 exon 24 0.2666667 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCATCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 310 197 0.9982613 0.996848 0.9975546 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.001391855 -0.0008848551 0.9983154 0.998693 NA -0.001138355 NA FALSE NA 0 -2.424 . synonymous_variant LOW WDR5 HGNC 12757 ENST00000608739 6/6 rs370047018 1 NA A:0 A:0.0001 CGT G,A 2.471e-05 9:134141972 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 synonymous_variant 1.594539 0.12791 0.05665 0.706548 0.7374716 0 0.9987022 TRUE 2.03062e-05 ENSE00001422107_015 ENSE00001422107 015 9 137007026 137007195 + 45 90 35 T C 137007114 3453 89 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGCTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141991 134141992 134141992 exon 44 0.4888889 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGCTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 3362 610 0.9969789 0.988625 0.992802 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.002674223 -0.009107809 0.9983154 0.998693 NA -0.005891016 NA FALSE NA 1 7.17 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 1 NA GTT T,C 8.236e-06 9:134141992 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 missense_variant 0.780696 0.95395 0.93621 0.706548 0.5524592 0 0.9987022 TRUE 4.06101e-06 ENSE00001422107_016 ENSE00001422107 016 9 137007026 137007195 + 45 90 35 C T 137007121 3454 96 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCTTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134141998 134141999 134141999 exon -40 0.5666667 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCTTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 928 726 0.954801 0.9908471 0.972824 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.04485221 -0.006885747 0.9983154 0.998693 NA -0.02586898 NA FALSE NA 0.61 -0.118 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 1 NA CCT C,T 8.236e-06 9:134141999 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 synonymous_variant 1.97289 0.86446 0.53554 0.706548 0.6753421 0 0.9987022 TRUE 4.06121e-06 ENSE00001422107_017 ENSE00001422107 017 9 137007026 137007195 + 45 90 35 C T 137007151 3455 126 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGATGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134142028 134142029 134142029 exon -10 0.9 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGATGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 215 10 1 1 1 0.9983602 0.9982707 0.9996532 0.9977328 NA NA 0.0003468271 0.002267191 0.9983154 0.998693 NA 0.001307009 NA FALSE NA 0.725 -0.315 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 rs372730045 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 ACG C,T 1.647e-05 9:134142029 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 synonymous_variant 2.024714 0.47193 0.24794 0.706548 0.7117373 0 0.9987022 TRUE 1.62489e-05 ENSE00001422107_018 ENSE00001422107 018 9 137007026 137007195 + 45 90 35 G A 137007152 3456 127 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACATGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134142029 134142030 134142030 exon -9 0.9111111 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACATGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 583 242 0.9875027 1 0.9937513 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.0121505 0.002267191 0.9983154 0.998693 NA -0.004941655 NA FALSE NA 1 6.885 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 rs201701545 1 NA CGT G,A 8.236e-06 9:134142030 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 missense_variant 3.75641 0.94504 0.92515 0.706548 0.9971705 0 0.9987022 TRUE 1.21879e-05 ENSE00001422107_019 ENSE00001422107 019 9 137007026 137007195 + 45 90 35 C T 137007159 3457 134 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTTGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134142036 134142037 134142037 exon -2 0.9888889 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTTGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 45 475 0.9965769 0.9989516 0.9977643 0.9983602 0.9982707 0.9996532 0.9977328 NA NA -0.003076236 0.001218787 0.9983154 0.998693 NA -0.0009287248 NA FALSE NA 1 6.974 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 1 NA TCG C,T 3.295e-05 9:134142037 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 missense_variant 5.324799 0.96164 0.939 0.706548 0.9983613 0 0.9987022 TRUE 2.03169e-05 ENSE00001422107_022 ENSE00001422107 022 9 137007026 137007195 + 45 90 35 G T 137007165 3460 140 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAATTGACACTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134142042 134142043 134142043 downstr_intron 5 1.147059 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAATTGACACTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 199 245 1 0.9948003 0.9974002 0.9983602 0.9982707 0.9996532 0.9977328 NA NA 0.0003468271 -0.002932468 0.9983154 0.998693 NA -0.001292821 NA FALSE NA 1 5.626 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 rs373618798 1 NA T:0 T:0.0001 AGT G,T 1.647e-05 9:134142043 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 splice_region_variant 0.623386 0.92892 0.92153 0.099367 0.8583207 0.810748 0.9987022 TRUE 3.65839e-05 ENSE00001422107_025 ENSE00001422107 025 9 137007026 137007195 + 45 90 35 C T 137007171 3463 146 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACATTCAGTGCTTCTCTCCAGGGGAGAC 134141903 134142073 134142048 134142049 134142049 downstr_intron 11 1.323529 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACATTCAGTGCTTCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 844 1727 0.9999512 0.9966242 0.9982877 0.9983602 0.9982707 0.9996532 0.9977328 NA NA 0.0002980571 -0.001108641 0.9983154 0.998693 NA -0.000405292 NA FALSE NA 0.001 -0.843 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 1 NA ACT C,T 8.236e-06 9:134142049 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 intron_variant 0.223468 0.23867 0.03152 0.099367 0.6188627 0.124109 0.9987022 TRUE 4.06636e-06 ENSE00001422107_027 ENSE00001422107 027 9 137007026 137007195 + 45 90 35 T C 137007180 3465 155 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTCCTCTCCAGGGGAGAC 134141903 134142073 134142057 134142058 134142058 downstr_intron 20 1.588235 CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTCCTCTCCAGGGGAGAC CTATTTTGTCCTGTCAAGTTACTGACCCTGTTTTTTCTCCCCAAGGGAATATCCGATGTAGCCTGGTCGTCAGATTCTAACCTTCTTGTTTCTGCCTCAGATGACAAAACCTTGAAGATATGGGACGTGAGCTCGGTAAGTGACACTCAGTGCTTCTCTCCAGGGGAGAC mutant NA NA NA NA NA 130 240 1 0.9917887 0.9958943 0.9983602 0.9982707 0.9996532 0.9977328 NA NA 0.0003468271 -0.005944148 0.9983154 0.998693 NA -0.002798661 NA FALSE NA 0.002 -0.795 . downstream_gene_variant MODIFIER WDR5 HGNC 12757 ENST00000608739 1 NA TTC C,C 4.942e-05 9:134142058 WDR5 HGNC Symbol protein_coding 24603 ENSG00000196363 ENSE00001422107 intron_variant -0.191361 0.12941 0.02648 0.099367 0.466582 0.0480595 0.9987022 TRUE 4.47569e-05 ENSE00001423601_000 ENSE00001423601 000 8 139631645 139631814 - 53 54 63 NA NA NA NA NA CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 NA NA NA NA NA NA GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG natural 118 99 0.9992504 0.9878218 0.9935361 1868 1519 0.9191111 0.8620826 0.8905969 0.9992504 0.9878218 0.9191111 0.8620826 0 0 0 0 0.9935361 0.8905969 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003694177 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001423601_001 ENSE00001423601 001 8 139631645 139631814 - 53 54 63 G T 139631658 2295 157 CATGTAGCTGATGTGCTTGGTTCTACCGTTCCCCACACACACTACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619414 138619415 138619415 downstr_intron 40 1.769231 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCACATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 263 79 0.9947138 1 0.9973569 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.07560269 0.1379174 0.9935361 0.8905969 NA 0.1067601 NA FALSE NA 0 -0.203 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 53/64 1 NA GGG G,T 8.236e-06 8:138619415 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 intron_variant -0.043033 0.13237 0.04381 0.074636 0.5410755 0.0448725 8.258326e-32 FALSE NA ENSE00001423601_002 ENSE00001423601 002 8 139631645 139631814 - 53 54 63 C T 139631671 2296 144 CATGTAGCTGATGGGCTTGGTTCTACTGTTCCCCACACACACTACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619427 138619428 138619428 downstr_intron 27 1.519231 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACAGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 476 32 0.964523 0.9255442 0.9450336 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.0454119 0.06346161 0.9935361 0.8905969 NA 0.05443676 NA FALSE NA 0 -1.567 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 53/64 rs371235477 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 T:0 T:0.0002 CCG C,T 0.0005601 8:138619428 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 intron_variant -0.296888 0.06929 0.00081 0.074636 0.4581247 0.0448725 8.258326e-32 FALSE 0.000468993 ENSE00001423601_003 ENSE00001423601 003 8 139631645 139631814 - 53 54 63 G A 139631672 2297 143 CATGTAGCTGATGGGCTTGGTTCTACCATTCCCCACACACACTACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619428 138619429 138619429 downstr_intron 26 1.5 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAATGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 274 248 0.9933572 0.9857433 0.9895503 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.07424605 0.1236608 0.9935361 0.8905969 NA 0.0989534 NA FALSE NA 0 -1.034 rs186119058 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 53/64 rs186119058 1 A:0.0010 A:0.0023 A:0.0029 NA A:0 A:0 A:0 A:0.003 A:0.0008 CGT G,A 0.0004859 8:138619429 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 intron_variant -0.221188 0.07439 0.00229 0.074636 0.4535984 0.0448725 8.258326e-32 FALSE 0.00048514 ENSE00001423601_005 ENSE00001423601 005 8 139631645 139631814 - 53 54 63 A C 139631679 2299 136 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCCCACACACTACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619435 138619436 138619436 downstr_intron 19 1.365385 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGGGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 578 29 0.9914368 1 0.9957184 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.07232565 0.1379174 0.9935361 0.8905969 NA 0.1051215 NA FALSE NA 0 -0.086 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 53/64 1 NA CAC A,C 8.236e-06 8:138619436 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 intron_variant 0.021478 0.14686 0.06109 0.074636 0.3098772 0.0647611 8.258326e-32 FALSE 1.21999e-05 ENSE00001423601_007 ENSE00001423601 007 8 139631645 139631814 - 53 54 63 C A 139631686 2301 129 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACAATACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619442 138619443 138619443 downstr_intron 12 1.230769 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTATTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 881 295 0.9959255 0.9940564 0.994991 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.07681432 0.1319739 0.9935361 0.8905969 NA 0.1043941 NA FALSE NA 0 -1.156 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 53/64 rs370318441 1 A:0.0010 A:0.003 A:0.0014 NA A:0 A:0 A:0 A:0.002 A:0 ACT C,A 0.000173 8:138619443 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 intron_variant -0.364035 0.06533 0.02625 0.074636 0.3619213 0.111679 8.258326e-32 FALSE 0.00010162 ENSE00001423601_009 ENSE00001423601 009 8 139631645 139631814 - 53 54 63 C T 139631689 2303 126 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTATACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619445 138619446 138619446 downstr_intron 9 1.173077 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTATAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 996 1377 0.9992955 0.9993896 0.9993426 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.08018431 0.1373071 0.9935361 0.8905969 NA 0.1087457 NA FALSE NA 0 -3.024 rs62530042 intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 53/64 rs62530042 1 T:0.0206 T:0.0424 T:0.0274 NA T:0 T:0.0229 T:0.0051 T:0.0411 T:0.0173 ACA C,T 0.018 8:138619446 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 intron_variant -0.374212 0.07845 0.00104 0.074636 0.3876617 0.196622 8.258326e-32 FALSE 0.0176084 ENSE00001423601_013 ENSE00001423601 013 8 139631645 139631814 - 53 54 63 G C 139631702 2307 113 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTACACACTTACAGGTCGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619458 138619459 138619459 exon -5 0.9259259 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCGACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 474 969 1 0.9994878 0.9997439 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.08088885 0.1374052 0.9935361 0.8905969 NA 0.109147 NA FALSE NA 0.47 1.399 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 53/65 1 unknown(0) NA TGG G,C 8.236e-06 8:138619459 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 missense_variant 0.881128 0.33901 0.23605 0.638212 0.4605933 0 8.258326e-32 FALSE 4.0626e-06 ENSE00001423601_014 ENSE00001423601 014 8 139631645 139631814 - 53 54 63 C T 139631705 2308 110 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTACACACTTACAGGTGGGTCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619461 138619462 138619462 exon -8 0.8703704 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGACCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 1128 547 0.9761897 0.9894712 0.9828305 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.05707853 0.1273886 0.9935361 0.8905969 NA 0.09223358 NA FALSE NA 0.404 3.581 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 53/65 1 unknown(0) NA GCC C,T 8.236e-06 8:138619462 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 missense_variant 3.39573 0.97717 0.89569 0.638212 0.9957594 0 8.258326e-32 FALSE 4.06243e-06 ENSE00001423601_015 ENSE00001423601 015 8 139631645 139631814 - 53 54 63 C T 139631708 2309 107 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTACACACTTACAGGTGGGCCTTGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619464 138619465 138619465 exon -11 0.8148148 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCAAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 173 1055 0.9606847 0.9809364 0.9708106 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.04157359 0.1188538 0.9935361 0.8905969 NA 0.08021372 NA FALSE NA 0.156 1.424 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 53/65 rs367926823 1 unknown(0) NA T:0 T:0.0001 TCG C,T 0.0001153 8:138619465 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 missense_variant 4.090042 0.96285 0.74551 0.638212 0.9937619 0 8.258326e-32 FALSE 7.31178e-05 ENSE00001423601_018 ENSE00001423601 018 8 139631645 139631814 - 53 54 63 C T 139631739 2312 76 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTTTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 138619495 138619496 138619496 exon 13 0.2407407 GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAAAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 117 559 0.9600163 0.9397116 0.949864 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.04090515 0.07762904 0.9935361 0.8905969 NA 0.0592671 NA FALSE NA 1 3.581 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 53/65 1 unknown(0) NA TCT C,T 4.118e-05 8:138619496 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 missense_variant 4.036258 0.98252 0.91685 0.638212 0.9969666 0 8.258326e-32 FALSE 4.0624e-05 ENSE00001423601_024 ENSE00001423601 024 8 139631645 139631814 - 53 54 63 C T 139631800 2318 15 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATTTTCCTATTCCTGGC 138619401 138619571 138619556 138619557 138619557 upstr_intron -49 -0.7619048 GCCAGGAATAGGAAAATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 366 883 0.9972697 0.9954791 0.9963744 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.0781586 0.1333965 0.9935361 0.8905969 NA 0.1057776 NA FALSE NA 0 0.067 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138619557 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003694177 intron_variant 0.028966 0.13016 0.01827 0.061011 0.2683232 0.045129 8.258326e-32 FALSE 1.2241e-05 ENSE00001423601_025 ENSE00001423601 025 8 139631645 139631814 - 53 54 63 C A 139631800 2319 15 CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTACACACTTACAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCCTGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATATTCCTATTCCTGGC 138619401 138619571 138619556 138619557 138619557 upstr_intron -49 -0.7619048 GCCAGGAATAGGAATATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG mutant NA NA NA NA NA 81 985 1 0.9968078 0.9984039 0.9992504 0.9878218 0.9191111 0.8620826 NA NA 0.08088885 0.1347252 0.9935361 0.8905969 NA 0.107807 NA FALSE NA 0 0.067 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003694177 intron_variant 0.113443 0.14361 0.0446 0.061011 0.3876966 0.045129 8.258326e-32 FALSE 8.16067e-06 ENSE00001423601_BRK ENSE00001423601 BRK 8 139631645 139631814 - 53 54 63 A,G; T,T NA NA NA CATGTAGCTGATGGGCTTGGTTCTACCGTTCCCCACACACACTACACACTTGGAGGTGGGCCTCGGGCACCCTCTGGTCCTGGTAGACCTGGCTCTCCTGCTTTGCCAAGAGAGTAAGGAAGAAAAGAAGAGTTTGAGGACAACATTGTAAGAATCTTCCTATTCCTGGC 138619401 138619571 NA NA NA NA NA NA GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCTTGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTCCAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG GCCAGGAATAGGAAGATTCTTACAATGTTGTCCTCAAACTCTTCTTTTCTTCCTTACTCTCAGGGCAAAGCAGGAGAGCCAGGTCTACCAGGACCAGAGGGTGCCCGAGGCCCACCTGTAAGTGTGTAGTGTGTGTGGGGAACGGTAGAACCAAGCCCATCAGCTACATG control 73 276 0 0 0 NA NA NA NA NA 0.9992504 0.9878218 0.9191111 0.8620826 -0.9992504 -0.9878218 NA NA 0.9935361 0.8905969 -0.9935361 NA NA NA TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003694177 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001425011_000 ENSE00001425011 000 10 99511086 99511255 + 47 87 36 NA NA NA NA NA CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 NA NA NA NA NA NA CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG natural NA NA NA NA NA 1273 781 0.9283171 1 0.9641585 NA NA 0.9283171 1 NA NA 0 0 NA 0.9641585 NA 0 NA FALSE NA NA NA NA NA NA ZFYVE27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZFYVE27 NA NA NA ENSG00000155256 ENSE00001425011 NA NA NA NA NA NA NA 0.003703953 FALSE NA ENSE00001425011_002 ENSE00001425011 002 10 99511086 99511255 + 47 87 36 C T 99511105 2289 20 CCTCTGCCTTAGGGAGCAGTGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751347 97751348 97751348 upstr_intron -28 -0.5744681 CCTCTGCCTTAGGGAGCAGTGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 334 39 1 0.9990182 0.9995091 NA NA 0.9283171 1 NA NA 0.07168291 -0.000981825 NA 0.9641585 NA 0.03535054 NA FALSE NA 0 0.157 rs112508815 intron_variant&non_coding_transcript_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 1/1 rs112508815 1 NA GCG C,T 9.884e-05 10:97751348 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 intron_variant 0.272251 0.20425 0.054 0.160901 0.7855583 0.134611 0.003703953 FALSE 6.50174e-05 ENSE00001425011_005 ENSE00001425011 005 10 99511086 99511255 + 47 87 36 C T 99511128 2292 43 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTTATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751370 97751371 97751371 upstr_intron -5 -0.08510638 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTTATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 158 193 0.9206258 1 0.9603129 NA NA 0.9283171 1 NA NA -0.007691275 0 NA 0.9641585 NA -0.003845638 NA FALSE NA 0.151 0.755 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ZFYVE27 HGNC 26559 ENST00000481956 1/1 rs370459644 1 NA T:0 T:0.0001 TCA C,T 8.236e-06 10:97751371 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 splice_region_variant 1.704004 0.21444 0.01982 0.283894 0.6847021 0.352061 0.003703953 FALSE NA ENSE00001425011_007 ENSE00001425011 007 10 99511086 99511255 + 47 87 36 C T 99511138 2294 53 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTTTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751380 97751381 97751381 exon 6 0.06896552 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTTTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 97 24 0.9987202 1 0.9993601 NA NA 0.9283171 1 NA NA 0.07040312 0 NA 0.9641585 NA 0.03520156 NA FALSE NA 0.026 -0.567 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 2/2 rs376769069 1 NA T:0 T:0.0001 TCT C,T 1.647e-05 10:97751381 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 synonymous_variant 1.459188 0.2144 0.10595 0.706548 0.6709981 0 0.003703953 FALSE 8.1217e-06 ENSE00001425011_010 ENSE00001425011 010 10 99511086 99511255 + 47 87 36 G A 99511159 2297 74 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCAGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751401 97751402 97751402 exon 27 0.3103448 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCAGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 165 507 0.9956812 0.9926466 0.9941639 NA NA 0.9283171 1 NA NA 0.06736415 -0.00735336 NA 0.9641585 NA 0.03000539 NA FALSE NA 0.012 -1.146 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 2/2 rs561011837 1 NA CGG G,A 8.236e-06 10:97751402 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 synonymous_variant 1.399244 0.82927 0.09962 0.706548 0.7403841 0 0.003703953 FALSE 2.03051e-05 ENSE00001425011_011 ENSE00001425011 011 10 99511086 99511255 + 47 87 36 G A 99511161 2298 76 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGACAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751403 97751404 97751404 exon 29 0.3333333 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGACAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 499 204 1 1 1 NA NA 0.9283171 1 NA NA 0.07168291 0 NA 0.9641585 NA 0.03584145 NA FALSE NA 1 8.731 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 2/2 1 NA GGC G,A 1.647e-05 10:97751404 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 missense_variant 6.114686 0.99295 0.9923 0.706548 0.9983827 0 0.003703953 FALSE 8.12163e-06 ENSE00001425011_013 ENSE00001425011 013 10 99511086 99511255 + 47 87 36 G T 99511166 2300 81 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCTTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751408 97751409 97751409 exon 34 0.3908046 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCTTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 16 58 1 1 1 NA NA 0.9283171 1 NA NA 0.07168291 0 NA 0.9641585 NA 0.03584145 NA FALSE NA 1 5.69 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 2/2 1 NA CGT G,T 1.647e-05 10:97751409 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 missense_variant 6.311809 0.99312 0.9881 0.706548 0.9971486 0 0.003703953 FALSE 8.12183e-06 ENSE00001425011_020 ENSE00001425011 020 10 99511086 99511255 + 47 87 36 G A 99511226 2307 141 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTAGCCCTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751468 97751469 97751469 downstr_intron 7 1.2 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTAGCCCTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 146 64 0.9914945 1 0.9957472 NA NA 0.9283171 1 NA NA 0.06317736 0 NA 0.9641585 NA 0.03158868 NA FALSE NA 0.849 0.028 . downstream_gene_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 1 NA TGG G,A 8.236e-06 10:97751469 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 splice_region_variant 1.902351 0.97027 0.53529 0.156188 0.861448 0.628185 0.003703953 FALSE 4.06246e-06 ENSE00001425011_021 ENSE00001425011 021 10 99511086 99511255 + 47 87 36 C A 99511229 2308 144 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCACTTCCCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751471 97751472 97751472 downstr_intron 10 1.285714 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCACTTCCCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 53 91 1 1 1 NA NA 0.9283171 1 NA NA 0.07168291 0 NA 0.9641585 NA 0.03584145 NA FALSE NA 0.781 1.455 . downstream_gene_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 1 NA CCC C,A 8.236e-06 10:97751472 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 intron_variant 2.717014 0.97806 0.87665 0.099367 0.8230456 0.982477 0.003703953 FALSE 4.06273e-06 ENSE00001425011_022 ENSE00001425011 022 10 99511086 99511255 + 47 87 36 C T 99511234 2309 149 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCTCCAGCATCCTCTACTCAGCAG 97751328 97751498 97751476 97751477 97751477 downstr_intron 15 1.428571 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCTCCAGCATCCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 308 484 0.9821114 0.9958036 0.9889575 NA NA 0.9283171 1 NA NA 0.05379426 -0.004196425 NA 0.9641585 NA 0.02479892 NA FALSE NA 0 -0.008 . downstream_gene_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 rs202196759 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0032 T:0 CCC C,T 0.0003706 10:97751477 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 intron_variant 1.784122 0.29131 0.06561 0.099367 0.8448797 0.307492 0.003703953 FALSE 0.000268149 ENSE00001425011_023 ENSE00001425011 023 10 99511086 99511255 + 47 87 36 C G 99511242 2310 157 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATGCTCTACTCAGCAG 97751328 97751498 97751484 97751485 97751485 downstr_intron 23 1.657143 CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATGCTCTACTCAGCAG CCTCTGCCTTAGGGAGCAGCGCTGCCATCCTTCTCCTTCTGTCATAGAGTCTCTCTTCCCAGGACCTCACACCGGGCAGCGTGGAGGAGGCTGAGGAGGCTGAGCCAGATGAAGAGTTTAAAGATGCGATTGAGGTGGGTGGCCCTTCCCCAGCATCCTCTACTCAGCAG mutant NA NA NA NA NA 18 350 1 0.95 0.975 NA NA 0.9283171 1 NA NA 0.07168291 -0.05 NA 0.9641585 NA 0.01084145 NA FALSE NA 0 0.927 . downstream_gene_variant MODIFIER ZFYVE27 HGNC 26559 ENST00000481956 rs371232662 1 NA G:0.0002 G:0.0003 TCC C,G 7.413e-05 10:97751485 ZFYVE27 HGNC Symbol protein_coding 23786 ENSG00000155256 ENSE00001425011 intron_variant 1.231379 0.27768 0.32085 0.099367 0.7919361 0.310518 0.003703953 FALSE 7.72113e-05 ENSE00001425801_000 ENSE00001425801 000 8 139638380 139638549 - 53 54 63 NA NA NA NA NA ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 NA NA NA NA NA NA GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT natural 199 239 0.896585 0.870451 0.883518 9406 4184 0.9254722 0.9556539 0.940563 0.896585 0.870451 0.9254722 0.9556539 0 0 0 0 0.883518 0.940563 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003465750 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001425801_001 ENSE00001425801 001 8 139638380 139638549 - 53 54 63 T C 139638399 2351 151 ATAAAGAGAAACTAGTTTGCTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626155 138626156 138626156 downstr_intron 34 1.653846 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAGCAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 165 72 0.9503677 0.9458151 0.9480914 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.02489552 -0.009838774 0.883518 0.940563 NA 0.007528371 NA FALSE NA 0 -0.249 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA GTT T,C 1.65e-05 8:138626156 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant -0.264701 0.14108 0.03402 0.061011 0.447889 0.0821837 8.258326e-32 FALSE 1.86341e-05 ENSE00001425801_002 ENSE00001425801 002 8 139638380 139638549 - 53 54 63 G A 139638404 2352 146 ATAAAGAGAAACTAGTTTGTTTTTATTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626160 138626161 138626161 downstr_intron 29 1.557692 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAATAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 243 778 0.9728678 0.9682653 0.9705665 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.04739562 0.01261136 0.883518 0.940563 NA 0.03000349 NA FALSE NA 0.001 -0.241 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA TGT G,A 8.249e-05 8:138626161 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant -0.115521 0.20343 0.03758 0.061011 0.4352242 0.0821837 8.258326e-32 FALSE 9.81657e-05 ENSE00001425801_003 ENSE00001425801 003 8 139638380 139638549 - 53 54 63 A T 139638418 2353 132 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTTTAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626174 138626175 138626175 downstr_intron 15 1.288462 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTAAAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 3052 2982 0.9241069 0.936804 0.9304555 0.896585 0.870451 0.9254722 0.9556539 NA NA -0.00136528 -0.01884989 0.883518 0.940563 NA -0.01010758 NA FALSE NA 0 -2.891 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA TAT A,T 6.596e-05 8:138626175 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant -0.114343 0.0983 0.00322 0.061011 0.3506218 0.0821837 8.258326e-32 FALSE NA ENSE00001425801_004 ENSE00001425801 004 8 139638380 139638549 - 53 54 63 A G 139638421 2354 129 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAGAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626177 138626178 138626178 downstr_intron 12 1.230769 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTCTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1650 1674 0.9519617 0.9564228 0.9541922 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.0264895 0.0007688924 0.883518 0.940563 NA 0.0136292 NA FALSE NA 0.003 1.301 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA AAA A,G 1.649e-05 8:138626178 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant 0.315152 0.24864 0.19854 0.061011 0.7597291 0.0832456 8.258326e-32 FALSE 9.17541e-06 ENSE00001425801_005 ENSE00001425801 005 8 139638380 139638549 - 53 54 63 A C 139638422 2355 128 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAACAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626178 138626179 138626179 downstr_intron 11 1.211538 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTGTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1950 1030 0.9390191 0.9341349 0.936577 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.0135469 -0.02151899 0.883518 0.940563 NA -0.003986042 NA FALSE NA 0 -0.158 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 51/64 1 NA AAA A,C 8.243e-06 8:138626179 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant 0.086618 0.15949 0.02609 0.061011 0.7477955 0.0832456 8.258326e-32 FALSE 9.15877e-06 ENSE00001425801_006 ENSE00001425801 006 8 139638380 139638549 - 53 54 63 A T 139638427 2356 123 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCTCTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626183 138626184 138626184 downstr_intron 6 1.115385 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGAGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 396 1306 0.00291038 0.02321333 0.01306186 0.896585 0.870451 0.9254722 0.9556539 NA NA -0.9225618 -0.9324406 0.883518 0.940563 NA -0.9275012 NA TRUE NA 0.991 2.89 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 51/64 rs369027549 1 NA T:0 T:0.0001 CAC A,T 8.241e-06 8:138626184 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 splice_region_variant 1.188596 0.97624 0.82678 0.061011 0.9118313 0.957516 8.258326e-32 FALSE NA ENSE00001425801_007 ENSE00001425801 007 8 139638380 139638549 - 53 54 63 T C 139638439 2357 111 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATCCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626195 138626196 138626196 exon -7 0.8888889 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGGATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1936 2074 0.9343011 0.953856 0.9440785 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.008828885 -0.001797872 0.883518 0.940563 NA 0.003515507 NA FALSE NA 1 0.524 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 51/65 1 NA TTC T,C 8.238e-06 8:138626196 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 synonymous_variant 0.346369 0.96311 0.68361 0.638212 0.7915859 0 8.258326e-32 FALSE 4.28178e-06 ENSE00001425801_008 ENSE00001425801 008 8 139638380 139638549 - 53 54 63 G A 139638442 2358 108 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCAGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626198 138626199 138626199 exon -10 0.8333333 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCTGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 186 6199 0.9553395 0.9261794 0.9407595 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.02986733 -0.02947445 0.883518 0.940563 NA 0.0001964407 NA FALSE NA 0.015 -1.92 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 51/65 rs201986505 1 NA CGG G,A 1.648e-05 8:138626199 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 synonymous_variant 1.261551 0.0719 0.00363 0.638212 0.4296761 0 8.258326e-32 FALSE 1.27665e-05 ENSE00001425801_009 ENSE00001425801 009 8 139638380 139638549 - 53 54 63 G T 139638443 2359 107 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGTGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626199 138626200 138626200 exon -11 0.8148148 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACACGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1666 2978 0.9573447 0.9326485 0.9449966 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.03187249 -0.02300539 0.883518 0.940563 NA 0.004433549 NA FALSE NA 0.997 4.648 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138626200 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 missense_variant 1.650311 0.33217 0.77107 0.638212 0.9792695 0 8.258326e-32 FALSE 8.48788e-06 ENSE00001425801_011 ENSE00001425801 011 8 139638380 139638549 - 53 54 63 G A 139638444 2361 106 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGATAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626200 138626201 138626201 exon -12 0.7962963 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTATCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 5563 303 0.9580745 0.931077 0.9445757 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.03260232 -0.02457694 0.883518 0.940563 NA 0.004012694 NA FALSE NA 1 4.648 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 51/65 1 unknown(0) NA GGT G,A 5.766e-05 8:138626201 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 missense_variant 1.903397 0.32175 0.73418 0.638212 0.9946102 0 8.258326e-32 FALSE 4.24301e-05 ENSE00001425801_013 ENSE00001425801 013 8 139638380 139638549 - 53 54 63 T C 139638454 2363 96 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGACGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626210 138626211 138626211 exon -22 0.6111111 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCGTCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1224 1557 0.9298369 0.9667658 0.9483014 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.004364755 0.01111187 0.883518 0.940563 NA 0.007738315 NA FALSE NA 0.01 -1.074 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 51/65 1 NA ATG T,C 8.237e-06 8:138626211 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 synonymous_variant 0.577304 0.2445 0.02331 0.638212 0.6664675 0 8.258326e-32 FALSE 4.19851e-06 ENSE00001425801_014 ENSE00001425801 014 8 139638380 139638549 - 53 54 63 G T 139638457 2364 93 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGTCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626213 138626214 138626214 exon -25 0.5555556 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGACCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 274 2310 0.9943593 0.998834 0.9965966 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.06888708 0.04318006 0.883518 0.940563 NA 0.05603357 NA FALSE NA 1 0.572 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 51/65 rs527896680 1 NA GGC G,T 8.237e-06 8:138626214 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 synonymous_variant 0.641583 0.96972 0.79132 0.638212 0.7141202 0 8.258326e-32 FALSE 4.18036e-06 ENSE00001425801_015 ENSE00001425801 015 8 139638380 139638549 - 53 54 63 G C 139638463 2365 87 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGCGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626219 138626220 138626220 exon 24 0.4444444 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCGCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1368 1806 0.9724808 0.9569569 0.9647188 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.0470086 0.001302971 0.883518 0.940563 NA 0.02415579 NA FALSE NA 1 0.987 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 51/65 rs567439472 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GGG G,C 8.237e-06 8:138626220 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 synonymous_variant 0.198998 0.97046 0.7985 0.638212 0.7037821 0 8.258326e-32 FALSE 4.19762e-06 ENSE00001425801_016 ENSE00001425801 016 8 139638380 139638549 - 53 54 63 G A 139638471 2366 79 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGAAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626227 138626228 138626228 exon 16 0.2962963 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTTCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 876 851 0.8001839 0.8601561 0.83017 0.896585 0.870451 0.9254722 0.9556539 NA NA -0.1252882 -0.09549776 0.883518 0.940563 NA -0.110393 NA FALSE NA 1 2.233 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 51/65 COSM3951347 1 unknown(0) NA GGA G,A 8.237e-06 8:138626228 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 missense_variant 2.388788 0.97387 0.80372 0.638212 0.8341564 0 8.258326e-32 FALSE 8.3366e-06 ENSE00001425801_017 ENSE00001425801 017 8 139638380 139638549 - 53 54 63 T C 139638483 2367 67 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTCCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626239 138626240 138626240 exon 4 0.07407407 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGGAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 278 2211 0.9155524 0.9961207 0.9558366 0.896585 0.870451 0.9254722 0.9556539 NA NA -0.00991974 0.0404668 0.883518 0.940563 NA 0.01527353 NA FALSE NA 0.995 3.771 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138626240 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 missense_variant 2.217982 0.98072 0.88585 0.638212 0.6569834 0 8.258326e-32 FALSE 4.15113e-06 ENSE00001425801_018 ENSE00001425801 018 8 139638380 139638549 - 53 54 63 T A 139638483 2368 67 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTACCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626239 138626240 138626240 exon 4 0.07407407 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGTAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 503 893 0.0166511 0.09009661 0.05337386 0.896585 0.870451 0.9254722 0.9556539 NA NA -0.9088211 -0.8655573 0.883518 0.940563 NA -0.8871892 NA TRUE NA 0.995 3.771 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003465750 stop_gained 13.52524 0.98122 0.8989 0.638212 0.9961076 0 8.258326e-32 FALSE 4.15113e-06 ENSE00001425801_020 ENSE00001425801 020 8 139638380 139638549 - 53 54 63 A T 139638494 2370 56 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGTTCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626250 138626251 138626251 upstr_intron -8 -0.1111111 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGAACTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1116 891 0.9307909 0.9211752 0.925983 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.005318688 -0.03447872 0.883518 0.940563 NA -0.01458002 NA FALSE NA 0.799 0.82 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 50/64 rs374662334 1 NA T:0.0002 T:0 GAT A,T 8.236e-06 8:138626251 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 splice_region_variant 0.247983 0.73444 0.26986 0.061011 0.6430071 0.2876 8.258326e-32 FALSE 4.14958e-06 ENSE00001425801_021 ENSE00001425801 021 8 139638380 139638549 - 53 54 63 T C 139638495 2371 55 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGACCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626251 138626252 138626252 upstr_intron -9 -0.1269841 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGGTCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 3391 1877 0.7451028 0.8098711 0.777487 0.896585 0.870451 0.9254722 0.9556539 NA NA -0.1803693 -0.1457828 0.883518 0.940563 NA -0.1630761 NA FALSE NA 0.131 0.003 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 1 NA ATC T,C 8.236e-06 8:138626252 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant 1.007966 0.57807 0.04893 0.061011 0.7510099 0.26446 8.258326e-32 FALSE 4.14828e-06 ENSE00001425801_022 ENSE00001425801 022 8 139638380 139638549 - 53 54 63 C T 139638497 2372 53 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCTAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626253 138626254 138626254 upstr_intron -11 -0.1587302 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTAGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1469 1194 0.04932442 0.09840111 0.07386277 0.896585 0.870451 0.9254722 0.9556539 NA NA -0.8761478 -0.8572528 0.883518 0.940563 NA -0.8667003 NA TRUE NA 0.389 0.252 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 1 NA CCA C,T 8.236e-06 8:138626254 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant 1.230933 0.82614 0.21824 0.061011 0.7343156 0.269287 8.258326e-32 FALSE NA ENSE00001425801_023 ENSE00001425801 023 8 139638380 139638549 - 53 54 63 A T 139638514 2373 36 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCTTGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626270 138626271 138626271 upstr_intron -28 -0.4285714 GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCAAGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1076 609 0.8055675 0.8 0.8027837 0.896585 0.870451 0.9254722 0.9556539 NA NA -0.1199047 -0.1556539 0.883518 0.940563 NA -0.1377793 NA FALSE NA 0 -0.084 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 rs373743383 1 NA T:0 T:0.0001 CAT A,T 8.236e-06 8:138626271 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant 0.051054 0.13425 0.02019 0.061011 0.7536446 0.0821837 8.258326e-32 FALSE 4.16413e-06 ENSE00001425801_024 ENSE00001425801 024 8 139638380 139638549 - 53 54 63 C T 139638520 2374 30 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAATCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 138626276 138626277 138626277 upstr_intron -34 -0.5238095 GTCATTTACTTCCAGAAAAGCCAGCAGAGATTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 1926 2274 0.9556631 0.9598444 0.9577538 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.03019093 0.004190518 0.883518 0.940563 NA 0.01719072 NA FALSE NA 0 0.206 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 1 NA ACC C,T 8.237e-06 8:138626277 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant -0.122762 0.1103 0.00131 0.061011 0.2129054 0.0821837 8.258326e-32 FALSE 1.25361e-05 ENSE00001425801_025 ENSE00001425801 025 8 139638380 139638549 - 53 54 63 G A 139638529 2375 21 ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTACTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCCTAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGACTTTTCTGGAAGTAAATGAC 138626136 138626306 138626285 138626286 138626286 upstr_intron -43 -0.6666667 GTCATTTACTTCCAGAAAAGTCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT mutant NA NA NA NA NA 859 415 0.9455356 0.8883958 0.9169657 0.896585 0.870451 0.9254722 0.9556539 NA NA 0.02006344 -0.06725811 0.883518 0.940563 NA -0.02359733 NA FALSE NA 0 -0.447 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 50/64 1 NA GGC G,A 1.647e-05 8:138626286 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003465750 intron_variant -0.096496 0.15646 0.01239 0.061011 0.2110381 0.0821837 8.258326e-32 FALSE 8.46303e-06 ENSE00001425801_BRK ENSE00001425801 BRK 8 139638380 139638549 - 53 54 63 A,G; T,T NA NA NA ATAAAGAGAAACTAGTTTGTTTTTGTTTGTTTGTTTTTATAAAAGCCACTTGGTGGGATTCCGGGTAATCCAGATGGGCCTTGGGGGCCAGGAGGGCCTTCTTTCCCAAAAAAGATCCAAGACATAAAAACACCATGAAACCTCTGCTGGCTTTTCTGGAAGTAAATGAC 138626136 138626306 NA NA NA NA NA NA GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTTTGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCACCAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT GTCATTTACTTCCAGAAAAGCCAGCAGAGGTTTCATGGTGTTTTTATGTCTTGGATCTTTTAGGGGAAAGAAGGCCCTCCTGGCCCCCAAGGCCCATCTGGATTACCCGGAATCCCAGTAAGTGGCTTTTATAAAAACAAACAAACAAAAACAAACTAGTTTCTCTTTAT control 444 128 0.1265314 0.1000031 0.1132673 1020 1551 0.02375254 0.02134243 0.02254748 0.896585 0.870451 0.9254722 0.9556539 -0.7700536 -0.7704479 -0.9017196 -0.9343115 0.883518 0.940563 -0.7702507 -0.9180156 0.1477648 TRUE TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003465750 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001427626_000 ENSE00001427626 000 17 2866650 2866819 + 74 33 63 NA NA NA NA NA AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA 2963355 2963525 NA NA NA NA NA NA AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA natural 34 23 0.9847728 0.9184102 0.9515915 1178 471 0.997956 0.9781436 0.9880498 0.9847728 0.9184102 0.997956 0.9781436 0 0 0 0 0.9515915 0.9880498 0 0 0 FALSE FALSE NA NA NA NA NA RAP1GAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAP1GAP2 NA NA NA ENSG00000132359 ENSE00001427626 NA NA NA NA NA NA NA 0.9559386 TRUE NA ENSE00001428150_000 ENSE00001428150 000 2 1263088 1263257 + 54 72 44 NA NA NA NA NA TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 NA NA NA NA NA NA TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG natural 87 18 0.7968153 0.978435 0.8876252 10949 6496 0.9811992 0.8172003 0.8991998 0.7968153 0.978435 0.9811992 0.8172003 0 0 0 0 0.8876252 0.8991998 0 0 0 FALSE FALSE NA NA NA NA NA SNTG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNTG2 NA NA NA ENSG00000172554 ENSE00001428150 NA NA NA NA NA NA NA 9.176088e-07 FALSE NA ENSE00001428150_001 ENSE00001428150 001 2 1263088 1263257 + 54 72 44 C T 1263108 26 21 TTTCAACTAAAAGTAGCATGTTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259335 1259336 1259336 upstr_intron -34 -0.6111111 TTTCAACTAAAAGTAGCATGTTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 506 556 1 0.99841 0.999205 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.0188008 0.1812097 0.8876252 0.8991998 NA 0.1000052 NA FALSE NA 0 -0.945 . intron_variant MODIFIER SNTG2 HGNC 13741 ENST00000308624 12/16 1 NA GCT C,T 1.655e-05 2:1259336 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 intron_variant 0.090208 0.09984 0.00077 0.053691 0.7504481 0.0647611 9.176088e-07 FALSE 1.22781e-05 ENSE00001428150_002 ENSE00001428150 002 2 1263088 1263257 + 54 72 44 A G 1263117 27 30 TTTCAACTAAAAGTAGCATGCTGCTTTTCGTGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259344 1259345 1259345 upstr_intron -25 -0.4444444 TTTCAACTAAAAGTAGCATGCTGCTTTTCGTGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 411 247 0.9900414 1 0.9950207 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.008842164 0.1827997 0.8876252 0.8991998 NA 0.09582092 NA FALSE NA 0.002 1.044 rs112175199 intron_variant MODIFIER SNTG2 HGNC 13741 ENST00000308624 12/16 rs112175199 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 G:0.0008 G:0 CAT A,G 9.104e-05 2:1259345 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 intron_variant 0.266281 0.14104 0.02859 0.053691 0.5679122 0.0448725 9.176088e-07 FALSE 6.92058e-05 ENSE00001428150_003 ENSE00001428150 003 2 1263088 1263257 + 54 72 44 C T 1263123 28 36 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAATGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259350 1259351 1259351 upstr_intron -19 -0.3333333 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAATGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 1891 1724 0.9988382 0.9993795 0.9991089 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.01763905 0.1821792 0.8876252 0.8991998 NA 0.09990911 NA FALSE NA 0 0.025 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:1259351 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 intron_variant -0.113606 0.17776 0.006 0.053691 0.3488328 0.0448725 9.176088e-07 FALSE 2.44274e-05 ENSE00001428150_004 ENSE00001428150 004 2 1263088 1263257 + 54 72 44 C A 1263123 29 36 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAAAGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259350 1259351 1259351 upstr_intron -19 -0.3333333 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAAAGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 1552 311 0.9890181 0.9877665 0.9883923 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.007818907 0.1705662 0.8876252 0.8991998 NA 0.08919253 NA FALSE NA 0 0.025 NA NA NA SNTG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNTG2 NA NA NA ENSG00000172554 ENSE00001428150 intron_variant -0.021185 0.19639 0.03381 0.053691 0.3476335 0.0448725 9.176088e-07 FALSE 4.07123e-06 ENSE00001428150_005 ENSE00001428150 005 2 1263088 1263257 + 54 72 44 G A 1263124 30 37 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACATTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259351 1259352 1259352 upstr_intron -18 -0.3148148 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACATTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 460 74 0.8705117 0.97142 0.9209659 0.7968153 0.978435 0.9811992 0.8172003 NA NA -0.1106875 0.1542197 0.8876252 0.8991998 NA 0.0217661 NA FALSE NA 0 -0.597 . intron_variant MODIFIER SNTG2 HGNC 13741 ENST00000308624 12/16 1 NA CGT G,A 8.277e-06 2:1259352 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 intron_variant -0.307744 0.1409 0.00658 0.053691 0.4350692 0.0448725 9.176088e-07 FALSE 1.22066e-05 ENSE00001428150_006 ENSE00001428150 006 2 1263088 1263257 + 54 72 44 G T 1263138 31 51 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTTCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259365 1259366 1259366 upstr_intron -4 -0.05555556 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTTCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 382 1035 0.9995986 0.9961835 0.9978911 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.01839941 0.1789832 0.8876252 0.8991998 NA 0.09869131 NA FALSE NA 0.188 -0.286 . splice_region_variant&intron_variant LOW SNTG2 HGNC 13741 ENST00000308624 12/16 1 NA TGC G,T 8.277e-06 2:1259366 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 splice_region_variant -0.41449 0.1353 0.02514 0.053691 0.5281991 0.0738489 9.176088e-07 FALSE 4.06573e-06 ENSE00001428150_008 ENSE00001428150 008 2 1263088 1263257 + 54 72 44 G A 1263144 33 57 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTAAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259371 1259372 1259372 exon 3 0.04166667 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTAAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 2784 1336 0.9636255 0.9975352 0.9805803 0.7968153 0.978435 0.9811992 0.8172003 NA NA -0.01757366 0.1803348 0.8876252 0.8991998 NA 0.08138058 NA FALSE NA 0.998 0.45 . splice_region_variant&synonymous_variant LOW SNTG2 HGNC 13741 ENST00000308624 13/17 1 NA TGA G,A 1.655e-05 2:1259372 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 splice_region_variant 0.728432 0.95654 0.58526 0.615465 0.5945193 0 9.176088e-07 FALSE 8.12566e-06 ENSE00001428150_009 ENSE00001428150 009 2 1263088 1263257 + 54 72 44 C T 1263153 34 66 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTTGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259380 1259381 1259381 exon 12 0.1666667 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTTGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 3338 154 0.9812823 1 0.9906411 0.7968153 0.978435 0.9811992 0.8172003 NA NA 8.309887e-05 0.1827997 0.8876252 0.8991998 NA 0.09144139 NA FALSE NA 0.316 0.192 . synonymous_variant LOW SNTG2 HGNC 13741 ENST00000308624 13/17 rs569178176&COSM3566051 1 NA TCG C,T 8.276e-06 2:1259381 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 synonymous_variant 0.745184 0.19143 0.05595 0.615465 0.50991 0 9.176088e-07 FALSE 1.21864e-05 ENSE00001428150_010 ENSE00001428150 010 2 1263088 1263257 + 54 72 44 G C 1263154 35 67 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCCATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259381 1259382 1259382 exon 13 0.1805556 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCCATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 233 1592 1 0.9986986 0.9993493 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.0188008 0.1814983 0.8876252 0.8991998 NA 0.1001495 NA FALSE NA 1 6.506 . missense_variant MODERATE SNTG2 HGNC 13741 ENST00000308624 13/17 COSM3836740 1 deleterious(0) probably_damaging(0.974) NA CGA G,C 8.276e-06 2:1259382 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 missense_variant 5.522211 0.99042 0.97818 0.615465 0.9947503 0 9.176088e-07 FALSE 1.21861e-05 ENSE00001428150_011 ENSE00001428150 011 2 1263088 1263257 + 54 72 44 T C 1263156 36 69 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGACTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259383 1259384 1259384 exon 15 0.2083333 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGACTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 366 127 0.8022037 1 0.9011019 0.7968153 0.978435 0.9811992 0.8172003 NA NA -0.1789955 0.1827997 0.8876252 0.8991998 NA 0.001902108 NA FALSE NA 0.992 0.264 . synonymous_variant LOW SNTG2 HGNC 13741 ENST00000308624 13/17 1 NA ATT T,C 8.276e-06 2:1259384 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 synonymous_variant -0.990611 0.94674 0.06945 0.615465 0.3720559 0 9.176088e-07 FALSE 4.06204e-06 ENSE00001428150_012 ENSE00001428150 012 2 1263088 1263257 + 54 72 44 G A 1263160 37 73 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGATGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259387 1259388 1259388 exon 19 0.2638889 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGATGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 469 1038 0.9786492 0.9958785 0.9872638 0.7968153 0.978435 0.9811992 0.8172003 NA NA -0.002549989 0.1786781 0.8876252 0.8991998 NA 0.08806407 NA FALSE NA 0.998 1.007 . missense_variant MODERATE SNTG2 HGNC 13741 ENST00000308624 13/17 1 tolerated(0.12) benign(0.316) NA GGT G,A 8.275e-06 2:1259388 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 missense_variant 1.289157 0.9621 0.77192 0.615465 0.9741471 0 9.176088e-07 FALSE 4.06194e-06 ENSE00001428150_013 ENSE00001428150 013 2 1263088 1263257 + 54 72 44 C T 1263163 38 76 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGTGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259390 1259391 1259391 exon 22 0.3055556 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGTGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 11 586 0.9922689 0.9495765 0.9709227 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.01106968 0.1323762 0.8876252 0.8991998 NA 0.07172293 NA FALSE NA 1 2.772 rs140313765 stop_gained HIGH SNTG2 HGNC 13741 ENST00000308624 13/17 rs140313765&COSM3390899 1 T:0.0016 T:0.0061 T:0 NA T:0 T:0 T:0 T:0.0019 T:0 HC GCG C,T 0.0003724 2:1259391 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 stop_gained 11.48631 0.96309 0.86135 0.615465 0.9962779 0 9.176088e-07 FALSE 0.000219352 ENSE00001428150_014 ENSE00001428150 014 2 1263088 1263257 + 54 72 44 G A 1263164 39 77 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCAAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259391 1259392 1259392 exon 23 0.3194444 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCAAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 1596 960 0.999231 0.9975037 0.9983673 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.01803179 0.1803033 0.8876252 0.8991998 NA 0.09916757 NA FALSE NA 1 2.081 . missense_variant MODERATE SNTG2 HGNC 13741 ENST00000308624 13/17 rs371971068 1 tolerated(0.23) benign(0.011) NA A:0 A:0.0002 CGA G,A 4.965e-05 2:1259392 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 missense_variant 1.396411 0.95246 0.74679 0.615465 0.8076538 0 9.176088e-07 FALSE 4.062e-05 ENSE00001428150_015 ENSE00001428150 015 2 1263088 1263257 + 54 72 44 A G 1263179 40 92 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTGTCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259406 1259407 1259407 exon -35 0.5277778 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTGTCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 1371 1195 0.9361408 0.9364172 0.936279 0.7968153 0.978435 0.9811992 0.8172003 NA NA -0.04505843 0.1192169 0.8876252 0.8991998 NA 0.03707923 NA FALSE NA 1 4.694 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:1259407 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 missense_variant 4.052726 0.97283 0.90521 0.615465 0.9916353 0 9.176088e-07 FALSE 2.03077e-05 ENSE00001428150_016 ENSE00001428150 016 2 1263088 1263257 + 54 72 44 A T 1263179 41 92 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTTTCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259406 1259407 1259407 exon -35 0.5277778 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTTTCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 411 2091 0.9765482 0.9978557 0.987202 0.7968153 0.978435 0.9811992 0.8172003 NA NA -0.004650981 0.1806554 0.8876252 0.8991998 NA 0.08800222 NA FALSE NA 1 4.694 NA NA NA SNTG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNTG2 NA NA NA ENSG00000172554 ENSE00001428150 missense_variant 0.287789 0.97204 0.85975 0.615465 0.3721257 0 9.176088e-07 FALSE 4.06154e-06 ENSE00001428150_017 ENSE00001428150 017 2 1263088 1263257 + 54 72 44 C G 1263181 42 94 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATGACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259408 1259409 1259409 exon -33 0.5555556 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATGACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 590 721 1 0.9968786 0.9984393 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.0188008 0.1796783 0.8876252 0.8991998 NA 0.09923954 NA FALSE NA 1 2.069 rs145354756 missense_variant MODERATE SNTG2 HGNC 13741 ENST00000308624 13/17 rs145354756&COSM569562&COSM1305608 1 tolerated(0.13) benign(0.013) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0008 G:0 TCA C,G 5.793e-05 2:1259409 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 missense_variant -0.939126 0.96156 0.65091 0.615465 0.5362464 0 9.176088e-07 FALSE 5.28013e-05 ENSE00001428150_018 ENSE00001428150 018 2 1263088 1263257 + 54 72 44 C T 1263184 43 97 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACTTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259411 1259412 1259412 exon -30 0.5972222 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACTTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 533 251 0.998914 0.9993694 0.9991417 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.01771481 0.1821691 0.8876252 0.8991998 NA 0.09994193 NA FALSE NA 1 6.511 . missense_variant MODERATE SNTG2 HGNC 13741 ENST00000308624 13/17 1 deleterious(0) probably_damaging(0.992) NA CCT C,T 9.104e-05 2:1259412 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 missense_variant 5.51183 0.98298 0.95715 0.615465 0.9987656 0 9.176088e-07 FALSE 8.53041e-05 ENSE00001428150_019 ENSE00001428150 019 2 1263088 1263257 + 54 72 44 G A 1263195 44 108 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTACTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259422 1259423 1259423 exon -19 0.75 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTACTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 1042 93 0.9962762 0.9502489 0.9732626 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.01507703 0.1330486 0.8876252 0.8991998 NA 0.07406279 NA FALSE NA 1 0.718 . synonymous_variant LOW SNTG2 HGNC 13741 ENST00000308624 13/17 1 NA TGC G,A 2.483e-05 2:1259423 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 synonymous_variant 0.137356 0.84568 0.4474 0.615465 0.6429844 0 9.176088e-07 FALSE 1.62512e-05 ENSE00001428150_020 ENSE00001428150 020 2 1263088 1263257 + 54 72 44 A G 1263212 45 125 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAGGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 1259439 1259440 1259440 exon -2 0.9861111 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAGGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 2359 940 0.9549912 0.797178 0.8760846 0.7968153 0.978435 0.9811992 0.8172003 NA NA -0.02620796 -0.02002238 0.8876252 0.8991998 NA -0.02311517 NA FALSE NA 1 7.819 . missense_variant&splice_region_variant MODERATE SNTG2 HGNC 13741 ENST00000308624 13/17 1 tolerated(0.06) possibly_damaging(0.87) NA AAG A,G 8.277e-06 2:1259440 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 missense_variant 4.126139 0.98748 0.98093 0.615465 0.997933 0 9.176088e-07 FALSE 4.06392e-06 ENSE00001428150_023 ENSE00001428150 023 2 1263088 1263257 + 54 72 44 G C 1263235 48 148 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCACATGCTTTCATACAAATAAGATG 1259315 1259485 1259462 1259463 1259463 downstr_intron 22 1.511628 TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCACATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG mutant NA NA NA NA NA 222 689 0.9991227 0.9973551 0.9982389 0.7968153 0.978435 0.9811992 0.8172003 NA NA 0.01792355 0.1801548 0.8876252 0.8991998 NA 0.09903918 NA FALSE NA 0 -0.304 rs138930557 intron_variant MODIFIER SNTG2 HGNC 13741 ENST00000308624 13/16 rs138930557 1 C:0.0018 C:0 C:0.0014 NA C:0 C:0.008 C:0 C:0.0008 C:0.005 AGA G,C 0.003203 2:1259463 SNTG2 HGNC Symbol protein_coding 416745 ENSG00000172554 ENSE00001428150 intron_variant -0.220288 0.18501 0.03723 0.053691 0.3134976 0.0641209 9.176088e-07 FALSE 0.00380539 ENSE00001428150_BRK ENSE00001428150 BRK 2 1263088 1263257 + 54 72 44 A,G; T,T NA NA NA TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCTTGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGCCAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG 1259315 1259485 NA NA NA NA NA NA TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCTTGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGCCAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG TTTCAACTAAAAGTAGCATGCTGCTTTTCATGGAACGTTCTCTGTTTCTTGCAGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTCTGTGAGGTGCTATTTAAAGTTCACAAGGTAGGTATCTTTTGCACTTCAGATGCTTTCATACAAATAAGATG control NA NA NA NA NA 244 900 0 0 0 0.7968153 0.978435 0.9811992 0.8172003 NA NA -0.9811992 -0.8172003 0.8876252 0.8991998 NA -0.8991998 NA TRUE NA NA NA NA NA NA SNTG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNTG2 NA NA NA ENSG00000172554 ENSE00001428150 NA NA NA NA NA NA NA 9.176088e-07 FALSE NA ENSE00001428689_000 ENSE00001428689 000 8 139616915 139617084 - 62 36 72 NA NA NA NA NA TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 NA NA NA NA NA NA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA natural NA NA NA NA NA 1355 981 0.9999392 0.9991027 0.999521 NA NA 0.9999392 0.9991027 NA NA 0 0 NA 0.999521 NA 0 NA FALSE NA NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003574070 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001428689_003 ENSE00001428689 003 8 139616915 139617084 - 62 36 72 G C 139616941 2210 144 TGCATAGACTGCCCATTGGTGGTAAACGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604697 138604698 138604698 downstr_intron 36 1.590164 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCGTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 420 532 1 0.9886592 0.9943296 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 -0.01044352 NA 0.999521 NA -0.005191382 NA FALSE NA 0.003 0.221 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 rs533690433 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 AGG G,C 8.237e-06 8:138604698 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant 0.22538 0.20242 0.04315 0.061011 0.743087 0.0436289 8.258326e-32 FALSE 4.13288e-06 ENSE00001428689_004 ENSE00001428689 004 8 139616915 139617084 - 62 36 72 G A 139616942 2211 143 TGCATAGACTGCCCATTGGTGGTAAAGAGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604698 138604699 138604699 downstr_intron 35 1.57377 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACTCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 181 107 0.9512658 1 0.9756329 NA NA 0.9999392 0.9991027 NA NA -0.04867343 0.0008972809 NA 0.999521 NA -0.02388808 NA FALSE NA 0.002 -0.009 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 rs553570672 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGG G,A 1.647e-05 8:138604699 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant 0.688626 0.15531 0.02107 0.061011 0.7914328 0.0436289 8.258326e-32 FALSE 1.23771e-05 ENSE00001428689_005 ENSE00001428689 005 8 139616915 139617084 - 62 36 72 G A 139616954 2212 131 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGATGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604710 138604711 138604711 downstr_intron 23 1.377049 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCATCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 55 22 1 1 1 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 0.0008972809 NA 0.999521 NA 0.0004790198 NA FALSE NA 0 -1.018 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 59/64 1 NA GGT G,A 2.471e-05 8:138604711 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant 0.340764 0.17391 0.00436 0.061011 0.6774291 0.0497025 8.258326e-32 FALSE 1.64316e-05 ENSE00001428689_008 ENSE00001428689 008 8 139616915 139617084 - 62 36 72 G A 139616964 2215 121 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCATGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604720 138604721 138604721 downstr_intron 13 1.213115 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACATGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 67 179 1 1 1 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 0.0008972809 NA 0.999521 NA 0.0004790198 NA FALSE NA 0 0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138604721 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant -0.35369 0.12396 0.01035 0.061011 0.2553994 0.0497025 8.258326e-32 FALSE 0.00930692 ENSE00001428689_009 ENSE00001428689 009 8 139616915 139617084 - 62 36 72 G C 139616964 2216 121 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCCTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604720 138604721 138604721 downstr_intron 13 1.213115 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACAGGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 152 109 1 1 1 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 0.0008972809 NA 0.999521 NA 0.0004790198 NA FALSE NA 0 0.015 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003574070 intron_variant -0.689508 0.15177 0.03858 0.061011 0.4110986 0.0497025 8.258326e-32 FALSE 1.22945e-05 ENSE00001428689_010 ENSE00001428689 010 8 139616915 139617084 - 62 36 72 T G 139616986 2217 99 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCGGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604742 138604743 138604743 exon -10 0.75 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCCGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 64 511 1 1 1 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 0.0008972809 NA 0.999521 NA 0.0004790198 NA FALSE NA 0.527 -0.562 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 59/65 1 NA CTG T,G 4.942e-05 8:138604743 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 synonymous_variant -0.506129 0.96529 0.55808 0.553676 0.4023 0 8.258326e-32 FALSE 3.6875e-05 ENSE00001428689_012 ENSE00001428689 012 8 139616915 139617084 - 62 36 72 T C 139617014 2219 71 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCCGGAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604770 138604771 138604771 upstr_intron -2 -0.01388889 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCGGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 191 68 0.1793942 0 0.0896971 NA NA 0.9999392 0.9991027 NA NA -0.820545 -0.9991027 NA 0.999521 NA -0.9098239 NA TRUE NA 1 5.736 . splice_acceptor_variant HIGH COL22A1 HGNC 22989 ENST00000303045 58/64 1 NA HC CTG T,C 2.471e-05 8:138604771 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 splice_acceptor_variant 4.593268 0.99105 0.98482 0.074636 0.9949176 0.955638 8.258326e-32 FALSE NA ENSE00001428689_013 ENSE00001428689 013 8 139616915 139617084 - 62 36 72 G A 139617016 2220 69 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGAAAAACAGAACAGAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604772 138604773 138604773 upstr_intron -4 -0.04166667 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTTCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 42 31 1 1 1 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 0.0008972809 NA 0.999521 NA 0.0004790198 NA FALSE NA 0 -1.179 . splice_region_variant&intron_variant LOW COL22A1 HGNC 22989 ENST00000303045 58/64 rs377194231 1 NA A:0.0007 A:0.0008 GGA G,A 0.0003871 8:138604773 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 splice_region_variant -0.462448 0.07488 0.01269 0.061011 0.4830188 0.1253 8.258326e-32 FALSE 0.000441605 ENSE00001428689_014 ENSE00001428689 014 8 139616915 139617084 - 62 36 72 G T 139617028 2221 57 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACATAATATCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604784 138604785 138604785 upstr_intron -16 -0.2083333 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTATGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 114 290 1 0.9861158 0.9930579 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 -0.01298692 NA 0.999521 NA -0.006463081 NA FALSE NA 0 -1.925 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 58/64 1 NA AGA G,T 8.237e-06 8:138604785 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant -0.431278 0.10384 0.00635 0.061011 0.4342654 0.0708702 8.258326e-32 FALSE NA ENSE00001428689_015 ENSE00001428689 015 8 139616915 139617084 - 62 36 72 A G 139617032 2222 53 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATGTCAGTGGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604788 138604789 138604789 upstr_intron -20 -0.2638889 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGACATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 466 255 0.9962308 0.9961795 0.9962051 NA NA 0.9999392 0.9991027 NA NA -0.00370844 -0.002923233 NA 0.999521 NA -0.003315836 NA FALSE NA 0 -0.438 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 58/64 rs555863504 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAT A,G 8.237e-06 8:138604789 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant -0.216213 0.13528 0.0054 0.061011 0.4668268 0.0708702 8.258326e-32 FALSE 4.1784e-06 ENSE00001428689_016 ENSE00001428689 016 8 139616915 139617084 - 62 36 72 G A 139617038 2223 47 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTAGCTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604794 138604795 138604795 upstr_intron -26 -0.3472222 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCTACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 123 13 1 1 1 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 0.0008972809 NA 0.999521 NA 0.0004790198 NA FALSE NA 0.204 0.929 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 58/64 rs376144349 1 NA A:0.0002 A:0 TGG G,A 9.062e-05 8:138604795 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant 0.267432 0.21699 0.02783 0.061011 0.6028646 0.110654 8.258326e-32 FALSE 7.20797e-05 ENSE00001428689_017 ENSE00001428689 017 8 139616915 139617084 - 62 36 72 C T 139617040 2224 45 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGTTCTGCAGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604796 138604797 138604797 upstr_intron -28 -0.375 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAACCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 232 19 1 1 1 NA NA 0.9999392 0.9991027 NA NA 6.075867e-05 0.0008972809 NA 0.999521 NA 0.0004790198 NA FALSE NA 0 -1.076 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 58/64 1 NA GCT C,T 8.239e-06 8:138604797 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant 0.317655 0.22787 0.02137 0.061011 0.5466106 0.0678421 8.258326e-32 FALSE NA ENSE00001428689_019 ENSE00001428689 019 8 139616915 139617084 - 62 36 72 A C 139617046 2226 39 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCCGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604802 138604803 138604803 upstr_intron -34 -0.4583333 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCGGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 766 334 0.9714156 0.9606452 0.9660304 NA NA 0.9999392 0.9991027 NA NA -0.02852365 -0.03845755 NA 0.999521 NA -0.0334906 NA FALSE NA 0 -0.744 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:138604803 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003574070 intron_variant -0.003002 0.14054 0.02473 0.061011 0.5739392 0.0708702 8.258326e-32 FALSE 0.680038 ENSE00001428689_020 ENSE00001428689 020 8 139616915 139617084 - 62 36 72 A T 139617046 2227 39 TGCATAGACTGCCCATTGGTGGTAAAGGGTTGCCAAGGGGTGAGTGGGCGTGTGATACTTGCCTCCTTGCCTGGGACTCCTTTCTCTCCTGGTTCTCCCTGGAAAACAGAACAGAATATCAGTGGCTCTGCTGCATCAGCCCAATGTCAGTACTAAGACTGTCTTTAAAA 138604671 138604841 138604802 138604803 138604803 upstr_intron -34 -0.4583333 TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCAGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA TTTTAAAGACAGTCTTAGTACTGACATTGGGCTGATGCTGCAGAGCCACTGATATTCTGTTCTGTTTTCCAGGGAGAACCAGGAGAGAAAGGAGTCCCAGGCAAGGAGGCAAGTATCACACGCCCACTCACCCCTTGGCAACCCTTTACCACCAATGGGCAGTCTATGCA mutant NA NA NA NA NA 758 39 0.9957606 1 0.9978803 NA NA 0.9999392 0.9991027 NA NA -0.004178616 0.0008972809 NA 0.999521 NA -0.001640668 NA FALSE NA 0 -0.744 NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003574070 intron_variant 0.128723 0.14176 0.02251 0.061011 0.5855589 0.0708702 8.258326e-32 FALSE 1.30465e-05 ENSE00001433814_000 ENSE00001433814 000 8 139712292 139712461 - 63 33 74 NA NA NA NA NA CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT 138700048 138700218 NA NA NA NA NA NA CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT natural 32 44 0.996894 0.9936305 0.9952622 789 385 0.992743 0.8080356 0.9003893 0.996894 0.9936305 0.992743 0.8080356 0 0 0 0 0.9952622 0.9003893 0 0 0 FALSE FALSE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003649849 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001433814_008 ENSE00001433814 008 8 139712292 139712461 - 63 33 74 G A 139712335 2592 127 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTTGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT 138700048 138700218 138700091 138700092 138700092 downstr_intron 20 1.322581 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTTGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT mutant NA NA NA NA NA 143 18 1 1 1 0.996894 0.9936305 0.992743 0.8080356 NA NA 0.007257011 0.1919644 0.9952622 0.9003893 NA 0.09961069 NA FALSE NA 0 -2.616 . intron_variant MODIFIER COL22A1 HGNC 22989 ENST00000303045 32/64 rs200319328 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGA G,A 7.413e-05 8:138700092 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003649849 intron_variant -0.130494 0.10613 0.00133 0.053691 0.3896063 0.0504749 8.258326e-32 FALSE 9.86355e-05 ENSE00001433814_014 ENSE00001433814 014 8 139712292 139712461 - 63 33 74 G A 139712355 2598 107 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCTGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT 138700048 138700218 138700111 138700112 138700112 exon -1 1 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCTGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT mutant NA NA NA NA NA 81 82 0.8019875 1 0.9009938 0.996894 0.9936305 0.992743 0.8080356 NA NA -0.1907555 0.1919644 0.9952622 0.9003893 NA 0.0006044454 NA FALSE NA 0.005 -2.227 rs77613350 splice_region_variant&synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 32/65 rs77613350 1 A:0.0335 A:0.0787 A:0.0187 NA A:0.0278 A:0.0189 A:0.0041 A:0.0608 A:0.016 CGG G,A 0.018 8:138700112 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003649849 splice_region_variant -0.543449 0.08855 0.00999 0.615465 0.3155551 0 8.258326e-32 FALSE 0.0166573 ENSE00001433814_019 ENSE00001433814 019 8 139712292 139712461 - 63 33 74 G A 139712366 2603 96 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATTCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT 138700048 138700218 138700122 138700123 138700123 exon -12 0.6666667 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATTCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT mutant NA NA NA NA NA 36 75 0.9734248 1 0.9867124 0.996894 0.9936305 0.992743 0.8080356 NA NA -0.01931817 0.1919644 0.9952622 0.9003893 NA 0.0863231 NA FALSE NA 0.99 2.554 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 32/65 1 probably_damaging(0.999) NA GGA G,A 8.236e-06 8:138700123 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003649849 missense_variant 3.602804 0.90133 0.68943 0.615465 0.9853442 0 8.258326e-32 FALSE 4.08277e-06 ENSE00001433814_021 ENSE00001433814 021 8 139712292 139712461 - 63 33 74 T A 139712370 2605 92 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCTCATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT 138700048 138700218 138700126 138700127 138700127 exon -16 0.5454545 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCTCATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT mutant NA NA NA NA NA 355 139 0.9027121 0.9997257 0.9512189 0.996894 0.9936305 0.992743 0.8080356 NA NA -0.09003091 0.1916901 0.9952622 0.9003893 NA 0.05082961 NA FALSE NA 0.163 -1.639 . synonymous_variant LOW COL22A1 HGNC 22989 ENST00000303045 32/65 1 NA GTG T,A 8.236e-06 8:138700127 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003649849 synonymous_variant 0.544284 0.78503 0.1283 0.615465 0.6639162 0 8.258326e-32 FALSE 4.0809e-06 ENSE00001433814_022 ENSE00001433814 022 8 139712292 139712461 - 63 33 74 G A 139712374 2606 88 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCATACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT 138700048 138700218 138700130 138700131 138700131 exon 14 0.4242424 CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCATACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT mutant NA NA NA NA NA 514 18 1 1 1 0.996894 0.9936305 0.992743 0.8080356 NA NA 0.007257011 0.1919644 0.9952622 0.9003893 NA 0.09961069 NA FALSE NA 1 3.991 . missense_variant MODERATE COL22A1 HGNC 22989 ENST00000303045 32/65 1 probably_damaging(0.963) NA TGT G,A 3.295e-05 8:138700131 COL22A1 HGNC Symbol protein_coding 325771 ENSG00000169436 ENSE00003649849 missense_variant 4.40928 0.91267 0.81731 0.615465 0.9905892 0 8.258326e-32 FALSE 2.44808e-05 ENSE00001433814_BRK ENSE00001433814 BRK 8 139712292 139712461 - 63 33 74 A,G; T,T NA NA NA CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCTTACATCCCTGTTCACACCACATCCACGGATGCCCCCAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT 138700048 138700218 NA NA NA NA NA NA CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCTTACATCCCTGTTCACACCACATCCACGGATGCCCCCAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT CAAGGCAGGTTTTAAAAATGAAACACTGGGTTCCTTGATGCCCATCTTTCTAATCTCTGTGGTTTCCTTTTCAGACATCCCTGTTCACACCACATCCACGGATGCCCGTAAGTAGTAGCGGTGCCTCGGGGTGCCCAGTGTGCCTCGGCCTGGAGGGCAATGTCCAGTGT control 12 55 0 0 0 NA NA NA NA NA 0.996894 0.9936305 0.992743 0.8080356 -0.996894 -0.9936305 NA NA 0.9952622 0.9003893 -0.9952622 NA NA NA TRUE NA NA NA NA NA COL22A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL22A1 NA NA NA ENSG00000169436 ENSE00003649849 NA NA NA NA NA NA NA 8.258326e-32 FALSE NA ENSE00001434518_000 ENSE00001434518 000 2 69397311 69397480 + 69 42 59 NA NA NA NA NA GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC 69170178 69170348 NA NA NA NA NA NA GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC natural 73 68 0.991533 0.9878831 0.989708 1783 1878 0.9937419 0.9612193 0.9774806 0.991533 0.9878831 0.9937419 0.9612193 0 0 0 0 0.989708 0.9774806 0 0 0 FALSE FALSE NA NA NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00001434518 NA NA NA NA NA NA NA 0.9852832 TRUE NA ENSE00001434518_001 ENSE00001434518 001 2 69397311 69397480 + 69 42 59 C T 69397357 1441 47 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGATCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC 69170178 69170348 69170224 69170225 69170225 upstr_intron -23 -0.3188406 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGATCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 124 290 0.9945658 0.9927273 0.9936466 0.991533 0.9878831 0.9937419 0.9612193 NA NA 0.0008239091 0.03150808 0.989708 0.9774806 NA 0.01616599 NA FALSE NA 0 -0.256 rs73934771 intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000409349 13/14 rs73934771 1 T:0.0090 T:0.0333 T:0 NA T:0 T:0 T:0.001 T:0.0232 T:0 ACC C,T 0.00257 2:69170225 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 intron_variant 0.580338 0.13432 0.01534 0.126639 0.6953691 0.107156 0.9852832 TRUE 0.00193745 ENSE00001434518_002 ENSE00001434518 002 2 69397311 69397480 + 69 42 59 G A 69397360 1442 50 GCTCTCCACCCTACTCTGCCACCCTGCCCACCCACTGCCATCCTGCTGTGGTCACTTACCTCACTCTCCTCGGCAGGGGGTGGAGGGACCTCCTTGATAATCTGAAAAGAAAACAGAGAATAGGTCAGTGAAAAATCTCTGGCTACCTGCCTCCTAAGAGGCTTGCTGTC 69170178 69170348 69170227 69170228 69170228 upstr_intron -20 -0.2753623 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTATTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 91 2562 1 0.9996084 0.9998042 0.991533 0.9878831 0.9937419 0.9612193 NA NA 0.00625807 0.03838919 0.989708 0.9774806 NA 0.02232363 NA FALSE NA 0 -0.516 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000409349 13/14 1 NA TGT G,A 1.647e-05 2:69170228 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 intron_variant 0.378419 0.16527 0.02591 0.095506 0.6860055 0.130797 0.9852832 TRUE 8.12381e-06 ENSE00001434518_003 ENSE00001434518 003 2 69397311 69397480 + 69 42 59 C T 69397365 1443 55 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTTTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC 69170178 69170348 69170232 69170233 69170233 upstr_intron -15 -0.2028986 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTTTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 51 182 1 1 1 0.991533 0.9878831 0.9937419 0.9612193 NA NA 0.00625807 0.03878075 0.989708 0.9774806 NA 0.02251941 NA FALSE NA 0 -0.896 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000409349 13/14 1 NA TCT C,T 3.295e-05 2:69170233 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 intron_variant 0.225999 0.11129 0.00252 0.095506 0.5872448 0.129381 0.9852832 TRUE 2.03087e-05 ENSE00001434518_005 ENSE00001434518 005 2 69397311 69397480 + 69 42 59 G A 69397379 1445 69 GCTCTCCACCCTACTCTGCCACCCTGCCCACCCACTGCCATCCTGCTGTGGTCACTTACCTCACTCTCCTCGGCAGGGGGTGGAGGGACCTCCTTGATAATTTGAAAAGAAAACAGAGAACAGGTCAGTGAAAAATCTCTGGCTACCTGCCTCCTAAGAGGCTTGCTGTC 69170178 69170348 69170246 69170247 69170247 upstr_intron -1 0 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAAATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 271 248 1 0.9741054 0.9870527 0.991533 0.9878831 0.9937419 0.9612193 NA NA 0.00625807 0.01288616 0.989708 0.9774806 NA 0.009572116 NA FALSE NA 1 5.031 . splice_acceptor_variant HIGH ANTXR1 HGNC 21014 ENST00000409349 13/14 1 NA HC AGA G,A 1.647e-05 2:69170247 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 splice_acceptor_variant 5.384783 0.97883 0.91959 0.095506 0.9950295 0.980107 0.9852832 TRUE 8.12374e-06 ENSE00001434518_007 ENSE00001434518 007 2 69397311 69397480 + 69 42 59 C T 69397405 1447 95 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCTTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC 69170178 69170348 69170272 69170273 69170273 exon -17 0.6190476 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCTTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 639 97 0.9734991 1 0.9867496 0.991533 0.9878831 0.9937419 0.9612193 NA NA -0.02024279 0.03878075 0.989708 0.9774806 NA 0.009268979 NA FALSE NA 1 3.966 . missense_variant MODERATE ANTXR1 HGNC 21014 ENST00000409349 14/15 1 tolerated_low_confidence(0.16) unknown(0) NA CCT C,T 8.236e-06 2:69170273 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 missense_variant 6.562074 0.97832 0.88779 0.626454 0.9771276 0 0.9852832 TRUE 8.12374e-06 ENSE00001434518_008 ENSE00001434518 008 2 69397311 69397480 + 69 42 59 G A 69397407 1448 97 GCTCTCCACCCTACTCTGCCACCCTGCCCACCCACTGCCATCCTGCTGTGGTCACTTACCTCACTCTCCTCGGTAGGGGGTGGAGGGACCTCCTTGATAATCTGAAAAGAAAACAGAGAACAGGTCAGTGAAAAATCTCTGGCTACCTGCCTCCTAAGAGGCTTGCTGTC 69170178 69170348 69170274 69170275 69170275 exon -15 0.6666667 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTACCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 324 796 0.9870263 0.9967763 0.9919013 0.991533 0.9878831 0.9937419 0.9612193 NA NA -0.006715591 0.03555703 0.989708 0.9774806 NA 0.01442072 NA FALSE NA 0.921 3.501 . missense_variant MODERATE ANTXR1 HGNC 21014 ENST00000409349 14/15 rs372820177 1 tolerated_low_confidence(0.18) unknown(0) NA A:0 A:0.0001 TGC G,A 8.236e-06 2:69170275 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 missense_variant 3.010594 0.97739 0.87174 0.626454 0.9401448 0 0.9852832 TRUE 4.06233e-06 ENSE00001434518_009 ENSE00001434518 009 2 69397311 69397480 + 69 42 59 C G 69397409 1449 99 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCGGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC 69170178 69170348 69170276 69170277 69170277 exon -13 0.7142857 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCGGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 2384 165 0.9982562 1 0.9991281 0.991533 0.9878831 0.9937419 0.9612193 NA NA 0.004514231 0.03878075 0.989708 0.9774806 NA 0.02164749 NA FALSE NA 0 -1.934 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:69170277 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 synonymous_variant 0.831955 0.2268 0.01322 0.626454 0.4451893 0 0.9852832 TRUE 4.06246e-06 ENSE00001434518_010 ENSE00001434518 010 2 69397311 69397480 + 69 42 59 C T 69397409 1450 99 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCTGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC 69170178 69170348 69170276 69170277 69170277 exon -13 0.7142857 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCTGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 369 137 1 1 1 0.991533 0.9878831 0.9937419 0.9612193 NA NA 0.00625807 0.03878075 0.989708 0.9774806 NA 0.02251941 NA FALSE NA 0 -1.934 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00001434518 synonymous_variant 1.44563 0.16875 0.00219 0.626454 0.5134835 0 0.9852832 TRUE 2.84373e-05 ENSE00001434518_013 ENSE00001434518 013 2 69397311 69397480 + 69 42 59 G T 69397443 1453 133 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGTCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC 69170178 69170348 69170310 69170311 69170311 downstr_intron 22 1.37931 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGTCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 458 15 0.9865641 1 0.993282 0.991533 0.9878831 0.9937419 0.9612193 NA NA -0.00717788 0.03878075 0.989708 0.9774806 NA 0.01580143 NA FALSE NA 0 -1.748 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:69170311 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 intron_variant -0.505534 0.08517 0.00286 0.095506 0.3803969 0.0761408 0.9852832 TRUE 2.03239e-05 ENSE00001434518_014 ENSE00001434518 014 2 69397311 69397480 + 69 42 59 G A 69397443 1454 133 GCTCTCCACCCTACTCTGCCACCCTGCCCACCCACTGTCATCCTGCTGTGGTCACTTACCTCACTCTCCTCGGCAGGGGGTGGAGGGACCTCCTTGATAATCTGAAAAGAAAACAGAGAACAGGTCAGTGAAAAATCTCTGGCTACCTGCCTCCTAAGAGGCTTGCTGTC 69170178 69170348 69170310 69170311 69170311 downstr_intron 22 1.37931 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGACAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 706 393 0.9968133 1 0.9984066 0.991533 0.9878831 0.9937419 0.9612193 NA NA 0.003071331 0.03878075 0.989708 0.9774806 NA 0.02092604 NA FALSE NA 0 -1.748 NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00001434518 intron_variant -0.312542 0.10439 0.00788 0.095506 0.2222742 0.0761408 0.9852832 TRUE 4.06478e-06 ENSE00001434518_015 ENSE00001434518 015 2 69397311 69397480 + 69 42 59 G A 69397449 1455 139 GCTCTCCACCCTACTCTGCCACCCTGCCCACTCACTGCCATCCTGCTGTGGTCACTTACCTCACTCTCCTCGGCAGGGGGTGGAGGGACCTCCTTGATAATCTGAAAAGAAAACAGAGAACAGGTCAGTGAAAAATCTCTGGCTACCTGCCTCCTAAGAGGCTTGCTGTC 69170178 69170348 69170316 69170317 69170317 downstr_intron 28 1.482759 GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGAGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC mutant NA NA NA NA NA 70 28 1 1 1 0.991533 0.9878831 0.9937419 0.9612193 NA NA 0.00625807 0.03878075 0.989708 0.9774806 NA 0.02251941 NA FALSE NA 0 -0.702 . intron_variant MODIFIER ANTXR1 HGNC 21014 ENST00000409349 14/14 1 NA GGG G,A 8.237e-06 2:69170317 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00001434518 intron_variant 0.306633 0.17787 0.01706 0.095506 0.6387796 0.0761408 0.9852832 TRUE 4.066e-06 ENSE00001434518_BRK ENSE00001434518 BRK 2 69397311 69397480 + 69 42 59 A,G; T,T NA NA NA GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCTTATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGCCAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC 69170178 69170348 NA NA NA NA NA NA GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCTTATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGCCAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC GACAGCAAGCCTCTTAGGAGGCAGGTAGCCAGAGATTTTTCACTGACCTGTTCTCTGTTTTCTTTTCAGATTATCAAGGAGGTCCCTCCACCCCCTGCCGAGGAGAGTGAGGTAAGTGACCACAGCAGGATGGCAGTGGGTGGGCAGGGTGGCAGAGTAGGGTGGAGAGC control 147 48 0 0 0 372 36 0.001617224 0 0.000808612 0.991533 0.9878831 0.9937419 0.9612193 -0.991533 -0.9878831 -0.9921247 -0.9612193 0.989708 0.9774806 -0.989708 -0.976672 0.01303607 TRUE TRUE NA NA NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00001434518 NA NA NA NA NA NA NA 0.9852832 TRUE NA ENSE00001434680_000 ENSE00001434680 000 6 158288532 158288701 + 47 87 36 NA NA NA NA NA CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT 157867499 157867669 NA NA NA NA NA NA CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT natural NA NA NA NA NA 1892 744 0.9906857 0.9579223 0.974304 NA NA 0.9906857 0.9579223 NA NA 0 0 NA 0.974304 NA 0 NA FALSE NA NA NA NA NA NA SNX9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX9 NA NA NA ENSG00000130340 ENSE00001434680 NA NA NA NA NA NA NA 0.5785752 FALSE NA ENSE00001434680_003 ENSE00001434680 003 6 158288532 158288701 + 47 87 36 C T 158288564 2552 33 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTTTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT 157867499 157867669 157867531 157867532 157867532 upstr_intron -15 -0.2978723 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTTTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 268 183 1 1 1 NA NA 0.9906857 0.9579223 NA NA 0.00931428 0.04207771 NA 0.974304 NA 0.025696 NA FALSE NA 0 -0.197 . intron_variant MODIFIER SNX9 HGNC 14973 ENST00000392185 1/17 1 NA TCT C,T 3.295e-05 6:157867532 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 intron_variant 0.693582 0.1317 0.02294 0.101703 0.7497572 0.15829 0.5785752 FALSE 2.03419e-05 ENSE00001434680_005 ENSE00001434680 005 6 158288532 158288701 + 47 87 36 T C 158288589 2554 58 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTACGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT 157867499 157867669 157867556 157867557 157867557 exon 11 0.1264368 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTACGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 145 291 1 1 1 NA NA 0.9906857 0.9579223 NA NA 0.00931428 0.04207771 NA 0.974304 NA 0.025696 NA FALSE NA 1 5.864 . missense_variant MODERATE SNX9 HGNC 14973 ENST00000392185 2/18 1 deleterious(0) benign(0.243) NA ATG T,C 1.647e-05 6:157867557 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 start_lost 3.611655 0.90952 0.85025 0.730579 0.9878654 0 0.5785752 FALSE 8.12678e-06 ENSE00001434680_007 ENSE00001434680 007 6 158288532 158288701 + 47 87 36 G C 158288600 2556 69 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTCCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT 157867499 157867669 157867567 157867568 157867568 exon 22 0.2528736 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTCCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 175 28 1 0.95 0.975 NA NA 0.9906857 0.9579223 NA NA 0.00931428 -0.007922286 NA 0.974304 NA 0.0006959969 NA FALSE NA 1 3.283 . missense_variant MODERATE SNX9 HGNC 14973 ENST00000392185 2/18 1 tolerated(0.22) possibly_damaging(0.632) NA TGC G,C 8.236e-06 6:157867568 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 missense_variant 3.819701 0.88166 0.67343 0.730579 0.9939042 0 0.5785752 FALSE 4.06293e-06 ENSE00001434680_008 ENSE00001434680 008 6 158288532 158288701 + 47 87 36 T A 158288605 2557 74 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCAGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT 157867499 157867669 157867572 157867573 157867573 exon 27 0.3103448 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCAGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 180 217 0.9175793 0.9998244 0.9587019 NA NA 0.9906857 0.9579223 NA NA -0.07310645 0.04190214 NA 0.974304 NA -0.01560215 NA FALSE NA 0.999 0.36 . downstream_gene_variant MODIFIER RP11-52J3.2 Clone_based_vega_gene NA ENST00000422776 1 NA CTG T,A 8.236e-06 6:157867573 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 synonymous_variant 1.38239 0.93559 0.50965 0.730579 0.8355518 0 0.5785752 FALSE 4.06253e-06 ENSE00001434680_009 ENSE00001434680 009 6 158288532 158288701 + 47 87 36 A T 158288607 2558 76 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGTACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT 157867499 157867669 157867574 157867575 157867575 exon 29 0.3333333 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGTACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 33 675 1 1 1 NA NA 0.9906857 0.9579223 NA NA 0.00931428 0.04207771 NA 0.974304 NA 0.025696 NA FALSE NA 1 6.809 . downstream_gene_variant MODIFIER RP11-52J3.2 Clone_based_vega_gene NA ENST00000422776 1 NA GAA A,T 8.236e-06 6:157867575 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 missense_variant 6.464427 0.86173 0.84393 0.730579 0.9935943 0 0.5785752 FALSE 4.06253e-06 ENSE00001434680_010 ENSE00001434680 010 6 158288532 158288701 + 47 87 36 A T 158288627 2559 96 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGTCGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT 157867499 157867669 157867594 157867595 157867595 exon -39 0.5632184 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGTCGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 66 12 0.9987462 1 0.9993731 NA NA 0.9906857 0.9579223 NA NA 0.00806049 0.04207771 NA 0.974304 NA 0.0250691 NA FALSE NA 1 3.791 . downstream_gene_variant MODIFIER RP11-52J3.2 Clone_based_vega_gene NA ENST00000422776 1 NA GAC A,T 1.647e-05 6:157867595 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 missense_variant 0.668322 0.93874 0.71732 0.730579 0.8951068 0 0.5785752 FALSE 1.62517e-05 ENSE00001434680_014 ENSE00001434680 014 6 158288532 158288701 + 47 87 36 G C 158288677 2563 146 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTCTACATTCGAGTCTGATTGTCCCAT 157867499 157867669 157867644 157867645 157867645 downstr_intron 12 1.342857 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTCTACATTCGAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 124 261 1 0.9998541 0.999927 NA NA 0.9906857 0.9579223 NA NA 0.00931428 0.04193177 NA 0.974304 NA 0.02562302 NA FALSE NA 0 -2.72 . downstream_gene_variant MODIFIER RP11-52J3.2 Clone_based_vega_gene NA ENST00000422776 1 NA TGT G,C 8.238e-06 6:157867645 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 intron_variant -0.512298 0.24453 0.03604 0.108992 0.5248118 0.0519007 0.5785752 FALSE 4.08797e-06 ENSE00001434680_015 ENSE00001434680 015 6 158288532 158288701 + 47 87 36 G A 158288685 2564 154 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCAAGTCTGATTGTCCCAT 157867499 157867669 157867652 157867653 157867653 downstr_intron 20 1.571429 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCAAGTCTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 135 520 0.9825195 0.9988106 0.990665 NA NA 0.9906857 0.9579223 NA NA -0.008166238 0.04088831 NA 0.974304 NA 0.01636104 NA FALSE NA 0 -0.429 rs141851391 downstream_gene_variant MODIFIER RP11-52J3.2 Clone_based_vega_gene NA ENST00000422776 rs141851391 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 CGA G,A 0.0002059 6:157867653 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 intron_variant -0.210895 0.12802 0.00275 0.108992 0.7683186 0.0524767 0.5785752 FALSE 0.000152109 ENSE00001434680_017 ENSE00001434680 017 6 158288532 158288701 + 47 87 36 T A 158288688 2566 157 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGACTGATTGTCCCAT 157867499 157867669 157867655 157867656 157867656 downstr_intron 23 1.657143 CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGACTGATTGTCCCAT CTCTGTTTGTGTTTGTAACATCCTCTTTTCCTCTCCACTCCTGATAGGCTCGGGTTATGTATGATTTTGCTGCTGAACCTGGAAATAATGAACTGACGGTTAATGAAGGAGAAATCATCACAATCACAAATCCGGTAAGAGAACTGTACATTCGAGTCTGATTGTCCCAT mutant NA NA NA NA NA 165 1627 1 0.9988218 0.9994109 NA NA 0.9906857 0.9579223 NA NA 0.00931428 0.04089953 NA 0.974304 NA 0.02510691 NA FALSE NA 0 -0.82 . downstream_gene_variant MODIFIER RP11-52J3.2 Clone_based_vega_gene NA ENST00000422776 1 NA GTC T,A 1.648e-05 6:157867656 SNX9 HGNC Symbol protein_coding 244690 ENSG00000130340 ENSE00001434680 intron_variant 0.481693 0.13135 0.01636 0.108992 0.7663076 0.0524767 0.5785752 FALSE 4.11906e-06 ENSE00001434905_000 ENSE00001434905 000 X 107821477 107821646 + 44 93 33 NA NA NA NA NA AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 NA NA NA NA NA NA AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT natural 624 406 0.8196327 0.7283365 0.7739846 9650 11928 0.8258183 0.9360931 0.8809557 0.8196327 0.7283365 0.8258183 0.9360931 0 0 0 0 0.7739846 0.8809557 0 0 0 FALSE FALSE NA NA NA NA NA COL4A5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A5 NA NA NA ENSG00000188153 ENSE00001434905 NA NA NA NA NA NA NA 0.9999183 TRUE NA ENSE00001434905_001 ENSE00001434905 001 X 107821477 107821646 + 44 93 33 T C 107821507 915 31 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATGAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578276 108578277 108578277 upstr_intron -14 -0.2954545 AGATTATGAAGTATCACCACTGTCTTATTTCATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 478 1355 0.04553414 0.009887 0.02771057 0.8196327 0.7283365 0.8258183 0.9360931 NA NA -0.7802841 -0.9262061 0.7739846 0.8809557 NA -0.8532451 NA TRUE NA 0.003 0.844 . intron_variant MODIFIER COL4A5 HGNC 2207 ENST00000328300 12/52 1 NA TTA T,C 3.295e-05 X:108578277 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 intron_variant 0.09354 0.23727 0.26591 0 0.7856352 0.0504749 0.9999183 TRUE 1.68164e-05 ENSE00001434905_002 ENSE00001434905 002 X 107821477 107821646 + 44 93 33 C T 107821510 916 34 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAAATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578279 108578280 108578280 upstr_intron -11 -0.2272727 AGATTATGAAGTATCACCACTGTCTTATTTTATTTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 1009 278 0.9561214 0.9684031 0.9622622 0.8196327 0.7283365 0.8258183 0.9360931 NA NA 0.1303031 0.03231001 0.7739846 0.8809557 NA 0.08130655 NA FALSE NA 0.229 0.355 . intron_variant MODIFIER COL4A5 HGNC 2207 ENST00000328300 12/52 rs201020166 1 NA T:0 T:0.0004 TCT C,T 0.0003542 X:108578280 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 intron_variant 0.107977 0.17449 0.04987 0 0.4909702 0.0893166 0.9999183 TRUE 0.00030828 ENSE00001434905_003 ENSE00001434905 003 X 107821477 107821646 + 44 93 33 C G 107821533 917 57 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAACACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578302 108578303 108578303 exon 13 0.1397849 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTGTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 1431 902 0.006583633 0.05753163 0.03205763 0.8196327 0.7283365 0.8258183 0.9360931 NA NA -0.8192347 -0.8785614 0.7739846 0.8809557 NA -0.8488981 NA TRUE NA 1 2.162 . missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 13/53 1 unknown(0) NA TCT C,G 8.237e-06 X:108578303 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 missense_variant 1.910529 0.97677 0.90972 0 0.80651 0 0.9999183 TRUE 5.59929e-06 ENSE00001434905_004 ENSE00001434905 004 X 107821477 107821646 + 44 93 33 G A 107821559 918 83 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGTCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578328 108578329 108578329 exon 39 0.4193548 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGACAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 866 9357 0.9999525 0.9736308 0.9867916 0.8196327 0.7283365 0.8258183 0.9360931 NA NA 0.1741342 0.03753775 0.7739846 0.8809557 NA 0.105836 NA FALSE NA 0.968 0.082 . synonymous_variant LOW COL4A5 HGNC 2207 ENST00000328300 13/53 1 NA GGC G,A 8.237e-06 X:108578329 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 synonymous_variant 0.992842 0.96202 0.5483 0 0.7087132 0 0.9999183 TRUE 5.60274e-06 ENSE00001434905_005 ENSE00001434905 005 X 107821477 107821646 + 44 93 33 A T 107821563 919 87 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGAACTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578332 108578333 108578333 exon 43 0.4623656 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGTTCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 10 606 0.8625954 0.88872 0.8756577 0.8196327 0.7283365 0.8258183 0.9360931 NA NA 0.03677708 -0.04737306 0.7739846 0.8809557 NA -0.005297988 NA FALSE NA 1 3.389 . missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 13/53 1 unknown(0) NA GAT A,T 1.647e-05 X:108578333 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 missense_variant 2.731375 0.97366 0.86081 0 0.7902568 0 0.9999183 TRUE 1.12044e-05 ENSE00001434905_006 ENSE00001434905 006 X 107821477 107821646 + 44 93 33 T C 107821568 920 92 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCGCTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578337 108578338 108578338 exon -46 0.516129 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGCGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 73 399 0.9130187 0.9973723 0.9551955 0.8196327 0.7283365 0.8258183 0.9360931 NA NA 0.0872004 0.06127925 0.7739846 0.8809557 NA 0.07423982 NA FALSE NA 0.981 -0.035 . synonymous_variant LOW COL4A5 HGNC 2207 ENST00000328300 13/53 1 NA GTG T,C 1.647e-05 X:108578338 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 synonymous_variant 0.618401 0.93994 0.70455 0 0.758902 0 0.9999183 TRUE 5.60205e-06 ENSE00001434905_007 ENSE00001434905 007 X 107821477 107821646 + 44 93 33 A G 107821584 921 108 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAACTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578353 108578354 108578354 exon -30 0.688172 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAGTTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 1030 559 0.9401775 0.9423309 0.9412542 0.8196327 0.7283365 0.8258183 0.9360931 NA NA 0.1143592 0.006237837 0.7739846 0.8809557 NA 0.06029854 NA FALSE NA 0.977 1.729 . missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 13/53 1 unknown(0) NA AAT A,G 8.237e-06 X:108578354 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 missense_variant 1.908972 0.98015 0.75794 0 0.9583107 0 0.9999183 TRUE 1.12041e-05 ENSE00001434905_008 ENSE00001434905 008 X 107821477 107821646 + 44 93 33 T C 107821589 922 113 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACGTCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578358 108578359 108578359 exon -25 0.7419355 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGACGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 252 1903 0.9753896 0.9940165 0.9847031 0.8196327 0.7283365 0.8258183 0.9360931 NA NA 0.1495713 0.05792345 0.7739846 0.8809557 NA 0.1037474 NA FALSE NA 0.806 0.326 . synonymous_variant LOW COL4A5 HGNC 2207 ENST00000328300 13/53 1 NA ATG T,C 1.647e-05 X:108578359 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 synonymous_variant 0.061053 0.66786 0.25518 0 0.5148424 0 0.9999183 TRUE 1.12048e-05 ENSE00001434905_009 ENSE00001434905 009 X 107821477 107821646 + 44 93 33 G A 107821590 923 114 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTATATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578359 108578360 108578360 exon -24 0.7526882 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATATAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 273 875 0.8015443 0.8008252 0.8011847 0.8196327 0.7283365 0.8258183 0.9360931 NA NA -0.02427403 -0.1352679 0.7739846 0.8809557 NA -0.07977095 NA FALSE NA 0.8 0.322 rs112564124 missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 13/53 rs112564124 1 unknown(0) NA TGT G,A 1.647e-05 X:108578360 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 missense_variant 1.765743 0.65554 0.12315 0 0.8686412 0 0.9999183 TRUE 1.12052e-05 ENSE00001434905_010 ENSE00001434905 010 X 107821477 107821646 + 44 93 33 A C 107821594 924 118 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATCTCCTTTCTGAAACGCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578363 108578364 108578364 exon -20 0.7956989 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGCGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 48 443 0.9408285 0.9983509 0.9695897 0.8196327 0.7283365 0.8258183 0.9360931 NA NA 0.1150102 0.0622578 0.7739846 0.8809557 NA 0.08863399 NA FALSE NA 1 2.755 . missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 13/53 CD961904 1 unknown(0) NA GAG A,C 1.647e-05 X:108578364 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 missense_variant 1.398143 0.97321 0.8613 0 0.9252049 0 0.9999183 TRUE 5.60215e-06 ENSE00001434905_011 ENSE00001434905 011 X 107821477 107821646 + 44 93 33 G A 107821608 925 132 AGATTTTCATTGACTTCCTCCCTACTTACTCACCTGATTTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578377 108578378 108578378 exon -6 0.9462366 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAAATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 543 165 0.9688955 0.9550508 0.9619732 0.8196327 0.7283365 0.8258183 0.9360931 NA NA 0.1430772 0.01895773 0.7739846 0.8809557 NA 0.08101748 NA FALSE NA 1 9.213 . missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 13/53 1 unknown(0) NA AGA G,A 1.647e-05 X:108578378 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 missense_variant 3.882872 0.99331 0.99111 0 0.9976747 0 0.9999183 TRUE 5.60328e-06 ENSE00001434905_012 ENSE00001434905 012 X 107821477 107821646 + 44 93 33 A G 107821612 926 136 AGATTTTCATTGACTTCCTCCCTACTTACTCACCCGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578381 108578382 108578382 exon -2 0.9892473 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCGGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 566 229 0.8015205 0.8036246 0.8025725 0.8196327 0.7283365 0.8258183 0.9360931 NA NA -0.02429779 -0.1324685 0.7739846 0.8809557 NA -0.07838315 NA FALSE NA 1 5.48 . missense_variant&splice_region_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 13/53 rs372889859 1 unknown(0) NA G:0 G:0.0001 CAG A,G 4.118e-05 X:108578382 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 missense_variant 2.282603 0.99118 0.97562 0 0.9503 0 0.9999183 TRUE 3.923e-05 ENSE00001434905_013 ENSE00001434905 013 X 107821477 107821646 + 44 93 33 G T 107821614 927 138 AGATTTTCATTGACTTCCTCCCTACTTACTCAACTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578383 108578384 108578384 downstr_intron 1 1.03125 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGTTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 256 838 0 0.05010527 0.02505263 0.8196327 0.7283365 0.8258183 0.9360931 NA NA -0.8258183 -0.8859878 0.7739846 0.8809557 NA -0.8559031 NA TRUE NA 1 8.945 . splice_donor_variant HIGH COL4A5 HGNC 2207 ENST00000328300 13/52 1 NA HC GGT G,T 8.237e-06 X:108578384 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 splice_donor_variant 5.229378 0.99351 0.99704 0 0.995491 0.977344 0.9999183 TRUE 5.60453e-06 ENSE00001434905_014 ENSE00001434905 014 X 107821477 107821646 + 44 93 33 A G 107821620 928 144 AGATTTTCATTGACTTCCTCCCTACTCACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578389 108578390 108578390 downstr_intron 7 1.21875 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTGAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 284 2406 0.8005672 0.9517839 0.8761756 0.8196327 0.7283365 0.8258183 0.9360931 NA NA -0.02525106 0.01569081 0.7739846 0.8809557 NA -0.004780127 NA FALSE NA 0.592 0.824 . splice_region_variant&intron_variant LOW COL4A5 HGNC 2207 ENST00000328300 13/52 rs377320477 1 NA G:0.0003 G:0 TAA A,G 8.237e-06 X:108578390 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 splice_region_variant 1.445584 0.31604 0.21765 0 0.7934841 0.352022 0.9999183 TRUE NA ENSE00001434905_015 ENSE00001434905 015 X 107821477 107821646 + 44 93 33 G C 107821627 929 151 AGATTTTCATTGACTTCCTGCCTACTTACTCACCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCCTGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 108578396 108578397 108578397 downstr_intron 14 1.4375 AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGCAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT mutant NA NA NA NA NA 1123 744 0.7656091 0.8571113 0.8113602 0.8196327 0.7283365 0.8258183 0.9360931 NA NA -0.06020918 -0.07898178 0.7739846 0.8809557 NA -0.06959548 NA FALSE NA 0.381 0.142 . intron_variant MODIFIER COL4A5 HGNC 2207 ENST00000328300 13/52 1 NA GGA G,C 0.000173 X:108578397 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00001434905 intron_variant 1.315318 0.22783 0.12497 0 0.7857369 0.139761 0.9999183 TRUE 0.000134655 ENSE00001434905_BRK ENSE00001434905 BRK X 107821477 107821646 + 44 93 33 A,G; T,T NA NA NA AGATTTTCATTGACTTCCTCCCTACTTACTCGGCTGATCTCCTTTCTGAAACTCTACATCAATTGGTCTTTTCTGTTCACTGATCTGCCCAGGTGGCCCAGGTGGGCCCTGAAGACCTTGCTCACCAAGTTTGCAAGATAAAATAAGACAGTGGTGATACTTCATAATCT 108578246 108578416 NA NA NA NA NA NA AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACTTGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGCCGAGTAAGTAGGGAGGAAGTCAATGAAAATCT AGATTATGAAGTATCACCACTGTCTTATTTTATCTTGCAAACAGGGTGAGCAAGGTCTTCAGGGCCCACCTGGGCCACCTGGGCAGATCAGTGAACAGAAAAGACCAATTGATGTAGAGTTTCAGAAAGGAGATCAGGTGAGTAAGTAGGGAGGAAGTCAATGAAAATCT control NA NA NA NA NA 442 629 0 0.003581786 0.001790893 0.8196327 0.7283365 0.8258183 0.9360931 NA NA -0.8258183 -0.9325113 0.7739846 0.8809557 NA -0.8791648 NA TRUE NA NA NA NA NA NA COL4A5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A5 NA NA NA ENSG00000188153 ENSE00001434905 NA NA NA NA NA NA NA 0.9999183 TRUE NA ENSE00001435474_000 ENSE00001435474 000 1 201822092 201822261 + 47 87 36 NA NA NA NA NA CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 NA NA NA NA NA NA CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC natural 21 47 0.9931721 0.9389812 0.9660767 1322 4205 0.9146759 0.968802 0.941739 0.9931721 0.9389812 0.9146759 0.968802 0 0 0 0 0.9660767 0.941739 0 0 0 FALSE FALSE NA NA NA NA NA IPO9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPO9 NA NA NA ENSG00000198700 ENSE00001435474 NA NA NA NA NA NA NA 0.9999922 TRUE NA ENSE00001435474_001 ENSE00001435474 001 1 201822092 201822261 + 47 87 36 G A 201822104 4566 13 CACTCCAGTCTCATGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201852975 201852976 201852976 upstr_intron -35 -0.7234043 CACTCCAGTCTCATGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 195 79 0.9919202 0.9995168 0.9957185 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.07724424 0.03071482 0.9660767 0.941739 NA 0.05397953 NA FALSE NA 0.001 0.236 . downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 1 NA CGT G,A 2.471e-05 1:201852976 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 intron_variant 0.055154 0.13496 0.00481 0.156188 0.7669387 0.0852439 0.9999922 TRUE 1.62627e-05 ENSE00001435474_003 ENSE00001435474 003 1 201822092 201822261 + 47 87 36 A G 201822110 4568 19 CACTCCAGTCTCGTGGCTGTGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201852981 201852982 201852982 upstr_intron -29 -0.5957447 CACTCCAGTCTCGTGGCTGTGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 853 33 0.990691 1 0.9953455 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.07601505 0.03119801 0.9660767 0.941739 NA 0.05360653 NA FALSE NA 0 -0.806 NA NA NA IPO9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:201852982 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 intron_variant 0.244515 0.07946 8e-04 0.295142 0.6033257 0.0852439 0.9999922 TRUE 4.06402e-06 ENSE00001435474_007 ENSE00001435474 007 1 201822092 201822261 + 47 87 36 C T 201822121 4572 30 CACTCCAGTCTCGTGGCTATGCTGTTATGTTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201852992 201852993 201852993 upstr_intron -18 -0.3617021 CACTCCAGTCTCGTGGCTATGCTGTTATGTTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 383 38 0.9977215 0.9969378 0.9973296 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.08304552 0.02813579 0.9660767 0.941739 NA 0.05559065 NA FALSE NA 0.001 0.812 . downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 1 NA GCT C,T 8.236e-06 1:201852993 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 intron_variant 0.650664 0.25838 0.06639 0.295142 0.6231105 0.663305 0.9999922 TRUE 4.0621e-06 ENSE00001435474_009 ENSE00001435474 009 1 201822092 201822261 + 47 87 36 C G 201822136 4574 45 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCGAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201853007 201853008 201853008 upstr_intron -3 -0.04255319 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCGAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 31 77 0 0 0 0.9931721 0.9389812 0.9146759 0.968802 NA NA -0.9146759 -0.968802 0.9660767 0.941739 NA -0.941739 NA TRUE NA 0.149 0.655 . downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 1 NA CCA C,G 8.236e-06 1:201853008 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 splice_region_variant 1.300163 0.97793 0.66082 0.295142 0.7950362 0.815387 0.9999922 TRUE 4.06144e-06 ENSE00001435474_012 ENSE00001435474 012 1 201822092 201822261 + 47 87 36 T C 201822149 4577 58 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTACTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201853020 201853021 201853021 exon 11 0.1264368 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTACTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 247 41 1 1 1 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.08532407 0.03119801 0.9660767 0.941739 NA 0.05826104 NA FALSE NA 1 7.586 . downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 1 NA ATT T,C 8.236e-06 1:201853021 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 missense_variant 5.653576 0.98997 0.98713 0.706548 0.9982656 0 0.9999922 TRUE 4.06108e-06 ENSE00001435474_013 ENSE00001435474 013 1 201822092 201822261 + 47 87 36 C T 201822161 4578 70 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTTCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201853032 201853033 201853033 exon 23 0.2643678 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTTCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 52 283 1 0.9875427 0.9937714 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.08532407 0.01874075 0.9660767 0.941739 NA 0.05203241 NA FALSE NA 1 7.377 . downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 rs546528389 1 NA TCC C,T 8.236e-06 1:201853033 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 missense_variant 6.80055 0.99232 0.98812 0.706548 0.9985924 0 0.9999922 TRUE 4.06114e-06 ENSE00001435474_014 ENSE00001435474 014 1 201822092 201822261 + 47 87 36 C T 201822168 4579 77 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCTGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201853039 201853040 201853040 exon 30 0.3448276 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCTGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 42 387 0.9654314 0.9999016 0.9826665 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.05075548 0.03109961 0.9660767 0.941739 NA 0.04092754 NA FALSE NA 0.39 -0.383 . downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 1 NA CCG C,T 1.647e-05 1:201853040 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 synonymous_variant 2.67369 0.91781 0.24335 0.706548 0.7660299 0 0.9999922 TRUE 4.06095e-06 ENSE00001435474_017 ENSE00001435474 017 1 201822092 201822261 + 47 87 36 T A 201822177 4582 86 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATATTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201853048 201853049 201853049 exon 39 0.4482759 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATATTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 185 28 1 1 1 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.08532407 0.03119801 0.9660767 0.941739 NA 0.05826104 NA FALSE NA 0.92 -0.033 rs140251055 downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 rs140251055 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 TTT T,A 8.236e-06 1:201853049 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 synonymous_variant 1.771154 0.93754 0.72843 0.706548 0.7172379 0 0.9999922 TRUE 4.06108e-06 ENSE00001435474_023 ENSE00001435474 023 1 201822092 201822261 + 47 87 36 C G 201822236 4588 145 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTGTTTGGATCAATAACAGACTTCATGC 201852963 201853133 201853107 201853108 201853108 downstr_intron 11 1.314286 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTGTTTGGATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 93 17 1 0.95 0.975 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.08532407 -0.01880199 0.9660767 0.941739 NA 0.03326104 NA FALSE NA 0.024 2.352 NA NA NA IPO9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:201853108 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 intron_variant 0.155309 0.29876 0.28129 0.062308 0.4975043 0.153832 0.9999922 TRUE 0.000117831 ENSE00001435474_024 ENSE00001435474 024 1 201822092 201822261 + 47 87 36 G T 201822241 4589 150 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGTATCAATAACAGACTTCATGC 201852963 201853133 201853112 201853113 201853113 downstr_intron 16 1.457143 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGTATCAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 173 365 0.9843688 0.9692811 0.9768249 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.0696929 0.0004790626 0.9660767 0.941739 NA 0.03508598 NA FALSE NA 0.042 0.06 . downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 1 NA GGA G,T 8.236e-06 1:201853113 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 intron_variant 0.000759 0.24044 0.09402 0.062308 0.5089544 0.155319 0.9999922 TRUE 4.06319e-06 ENSE00001435474_025 ENSE00001435474 025 1 201822092 201822261 + 47 87 36 C G 201822244 4590 153 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATGAATAACAGACTTCATGC 201852963 201853133 201853115 201853116 201853116 downstr_intron 19 1.542857 CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATGAATAACAGACTTCATGC CACTCCAGTCTCGTGGCTATGCTGTTATGCTGTAACCTTTCTTCCAGGTGTATGGTATTCGAACCCGTTCCCGAGCCGTGGAGATTTTTACCACTTGTGCCCATATGATCTGTAACATGGAGGAGCTGGAAAAGGTAAGCAGGTCTTTGGATCAATAACAGACTTCATGC mutant NA NA NA NA NA 442 49 0.9806172 1 0.9903086 0.9931721 0.9389812 0.9146759 0.968802 NA NA 0.06594126 0.03119801 0.9660767 0.941739 NA 0.04856963 NA FALSE NA 0 -0.664 rs147724148 downstream_gene_variant MODIFIER IPO9 HGNC 19425 ENST00000479374 rs147724148 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TCA C,G 8.236e-06 1:201853116 IPO9 HGNC Symbol protein_coding 55153 ENSG00000198700 ENSE00001435474 intron_variant 0.209591 0.20469 0.03092 0.062308 0.5680541 0.155319 0.9999922 TRUE 8.1283e-06 ENSE00001436426_000 ENSE00001436426 000 X 107802249 107802418 + 45 90 35 NA NA NA NA NA CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 NA NA NA NA NA NA GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG natural 232 252 0.9937313 0.9913224 0.9925268 7248 7533 0.9677654 0.9924018 0.9800836 0.9937313 0.9913224 0.9677654 0.9924018 0 0 0 0 0.9925268 0.9800836 0 0 0 FALSE FALSE NA NA NA NA NA COL4A5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A5 NA NA NA ENSG00000188153 ENSE00003486836 NA NA NA NA NA NA NA 0.9999183 TRUE NA ENSE00001436426_001 ENSE00001436426 001 X 107802249 107802418 + 45 90 35 A G 107802261 899 13 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCACTTGTGAATTTTC 108559018 108559188 108559030 108559031 108559031 upstr_intron -33 -0.7111111 GAAAATTCACAAGTGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 1782 161 0.9994908 0.9997633 0.999627 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.03172539 0.007361513 0.9925268 0.9800836 NA 0.01954345 NA FALSE NA 0.952 1.523 . intron_variant MODIFIER COL4A5 HGNC 2207 ENST00000328300 2/52 1 NA AAT A,G 8.24e-06 X:108559031 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 intron_variant 1.951933 0.20977 0.51296 0 0.8817426 0.19403 0.9999183 TRUE 5.62502e-06 ENSE00001436426_002 ENSE00001436426 002 X 107802249 107802418 + 45 90 35 T C 107802268 900 20 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTGAGGTCATTTGTGAATTTTC 108559018 108559188 108559037 108559038 108559038 upstr_intron -26 -0.5555556 GAAAATTCACAAATGACCTCACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 1291 1638 0.9964024 0.9959743 0.9961883 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.02863695 0.003572548 0.9925268 0.9800836 NA 0.01610475 NA FALSE NA 0 0.861 . intron_variant MODIFIER COL4A5 HGNC 2207 ENST00000328300 2/52 rs374514674 1 NA C:0 C:0.0001 TTA T,C 2.472e-05 X:108559038 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 intron_variant 1.829584 0.18303 0.07396 0 0.8561963 0.1273 0.9999183 TRUE 6.17877e-05 ENSE00001436426_003 ENSE00001436426 003 X 107802249 107802418 + 45 90 35 G T 107802290 901 42 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGAAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559059 108559060 108559060 upstr_intron -4 -0.06666667 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTTCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 827 251 0.9965726 1 0.9982863 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.0288072 0.007598241 0.9925268 0.9800836 NA 0.01820272 NA FALSE NA 0.278 -0.339 . splice_region_variant&intron_variant LOW COL4A5 HGNC 2207 ENST00000328300 2/52 1 NA TGC G,T 8.237e-06 X:108559060 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 splice_region_variant 0.065733 0.17334 0.08128 0 0.7175834 0.215169 0.9999183 TRUE NA ENSE00001436426_004 ENSE00001436426 004 X 107802249 107802418 + 45 90 35 A G 107802296 902 48 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCCCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559065 108559066 108559066 exon 3 0.03333333 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGGGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 376 442 0.9928286 0.9765553 0.984692 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.02506319 -0.01584642 0.9925268 0.9800836 NA 0.004608383 NA FALSE NA 0.998 1.291 . splice_region_variant&synonymous_variant LOW COL4A5 HGNC 2207 ENST00000328300 3/53 1 NA GAG A,G 1.647e-05 X:108559066 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 splice_region_variant 1.787466 0.96444 0.53699 0 0.8485969 0 0.9999183 TRUE 1.1215e-05 ENSE00001436426_005 ENSE00001436426 005 X 107802249 107802418 + 45 90 35 T G 107802316 903 68 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCCAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559085 108559086 108559086 exon 23 0.2555556 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTGGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 208 1140 1 0.8730734 0.9365367 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.03223457 -0.1193284 0.9925268 0.9800836 NA -0.04354691 NA FALSE NA 1 6.591 . missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 3/53 1 unknown(0) NA TTG T,G 8.237e-06 X:108559086 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 missense_variant 4.255063 0.98956 0.96101 0 0.936078 0 0.9999183 TRUE 5.60441e-06 ENSE00001436426_006 ENSE00001436426 006 X 107802249 107802418 + 45 90 35 C T 107802324 904 76 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTATCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559093 108559094 108559094 exon 31 0.3444444 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGATACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 1770 2557 1 0.9477872 0.9738936 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.03223457 -0.0446146 0.9925268 0.9800836 NA -0.006190016 NA FALSE NA 0.992 6.411 . missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 3/53 rs372805446&COSM610062 1 unknown(0) NA T:0 T:0.0001 ACA C,T 1.647e-05 X:108559094 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 missense_variant 1.972345 0.99188 0.95718 0 0.9153963 0 0.9999183 TRUE 5.60488e-06 ENSE00001436426_007 ENSE00001436426 007 X 107802249 107802418 + 45 90 35 A G 107802347 905 99 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCCGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559116 108559117 108559117 exon -37 0.6 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCGGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 388 171 1 0.9935083 0.9967541 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.03223457 0.001106514 0.9925268 0.9800836 NA 0.01667054 NA FALSE NA 0.997 0.113 . synonymous_variant LOW COL4A5 HGNC 2207 ENST00000328300 3/53 1 NA CAG A,G 8.237e-06 X:108559117 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 synonymous_variant 0.104415 0.9631 0.62669 0 0.6174612 0 0.9999183 TRUE 5.60544e-06 ENSE00001436426_008 ENSE00001436426 008 X 107802249 107802418 + 45 90 35 G C 107802357 906 109 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCGTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559126 108559127 108559127 exon -27 0.7111111 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAACGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 1210 897 0.9429416 0.9867322 0.9648369 0.9937313 0.9913224 0.9677654 0.9924018 NA NA -0.02482387 -0.005669553 0.9925268 0.9800836 NA -0.01524671 NA FALSE NA 1 8.071 . missense_variant MODERATE COL4A5 HGNC 2207 ENST00000328300 3/53 1 unknown(0) NA AGG G,C 8.237e-06 X:108559127 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 missense_variant 4.762039 0.99242 0.9791 0 0.9981458 0 0.9999183 TRUE 5.60661e-06 ENSE00001436426_010 ENSE00001436426 010 X 107802249 107802418 + 45 90 35 G A 107802373 908 125 CATCTGGCATTACTGGTTGGCAACATGATACATACCTTTTGTCCCTGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559142 108559143 108559143 exon -11 0.8888889 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCAGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 1609 638 0.9997439 0.9875082 0.9936261 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.03197852 -0.00489357 0.9925268 0.9800836 NA 0.01354247 NA FALSE NA 0.841 1.228 NA NA NA COL4A5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:108559143 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 missense_variant 2.578252 0.62203 0.57747 0 0.9547138 0 0.9999183 TRUE 2.24466e-05 ENSE00001436426_012 ENSE00001436426 012 X 107802249 107802418 + 45 90 35 G A 107802383 910 135 CATCTGGCATTACTGGTTGGCAACATGATACATACTTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559152 108559153 108559153 exon -1 1 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAAGTATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 61 138 0.9684015 0.9988522 0.9836269 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.0006360875 0.006450475 0.9925268 0.9800836 NA 0.003543281 NA FALSE NA 1 6.318 . splice_region_variant&synonymous_variant LOW COL4A5 HGNC 2207 ENST00000328300 3/53 1 NA AGG G,A 8.237e-06 X:108559153 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 splice_region_variant 2.434899 0.98665 0.94802 0 0.8556704 0 0.9999183 TRUE 5.61331e-06 ENSE00001436426_013 ENSE00001436426 013 X 107802249 107802418 + 45 90 35 T C 107802385 911 137 CATCTGGCATTACTGGTTGGCAACATGATACATGCCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559154 108559155 108559155 downstr_intron 2 1.058824 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGCATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 1470 1244 0.7900766 0.8495981 0.8198373 0.9937313 0.9913224 0.9677654 0.9924018 NA NA -0.1776888 -0.1428037 0.9925268 0.9800836 NA -0.1602462 NA FALSE NA 1 6.591 . splice_donor_variant HIGH COL4A5 HGNC 2207 ENST00000328300 3/52 1 NA HC GTA T,C 1.647e-05 X:108559155 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 splice_donor_variant 4.546341 0.98272 0.93612 0 0.992128 0.809686 0.9999183 TRUE 5.61385e-06 ENSE00001436426_015 ENSE00001436426 015 X 107802249 107802418 + 45 90 35 G T 107802395 913 147 CATCTGGCATTACTGGTTGGCAAAATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559164 108559165 108559165 downstr_intron 12 1.352941 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATTTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 329 677 0.9998748 0.9962014 0.9980381 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.03210942 0.003799682 0.9925268 0.9800836 NA 0.01795455 NA FALSE NA 0.001 0.085 . intron_variant MODIFIER COL4A5 HGNC 2207 ENST00000328300 3/52 1 NA TGT G,T 8.238e-06 X:108559165 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 intron_variant 0.143878 0.20753 0.03904 0 0.7216805 0.0504749 0.9999183 TRUE 5.62025e-06 ENSE00001436426_016 ENSE00001436426 016 X 107802249 107802418 + 45 90 35 G A 107802406 914 158 CATCTGGCATTATTGGTTGGCAACATGATACATACCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCCTGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 108559175 108559176 108559176 downstr_intron 23 1.676471 GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAATAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG mutant NA NA NA NA NA 974 1207 0.9998309 0.9940379 0.9969344 0.9937313 0.9913224 0.9677654 0.9924018 NA NA 0.03206544 0.001636182 0.9925268 0.9800836 NA 0.01685081 NA FALSE NA 0.001 -0.292 . intron_variant MODIFIER COL4A5 HGNC 2207 ENST00000328300 3/52 rs372023171 1 NA A:0.0003 A:0 AGT G,A 1.648e-05 X:108559176 COL4A5 HGNC Symbol protein_coding 257701 ENSG00000188153 ENSE00003486836 intron_variant 0.523377 0.11978 0.01375 0 0.8041538 0.0851412 0.9999183 TRUE 5.62971e-06 ENSE00001436426_BRK ENSE00001436426 BRK X 107802249 107802418 + 45 90 35 A,G; T,T NA NA NA CATCTGGCATTACTGGTTGGCAACATGATACATGGCTTTTGTCCCCGAGGCCCCGGAGGCCCTTCTGGACCTGGAAATCCAGGCAATCCTGGGTGTCCTTCCAAACCTGGAAACCCTCTCTCTCCAAGCAATTAAATGAGAATGAAAGGTAAGGTCATTTGTGAATTTTC 108559018 108559188 NA NA NA NA NA NA GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCTTGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGCCATGTATCATGTTGCCAACCAGTAATGCCAGATG GAAAATTCACAAATGACCTTACCTTTCATTCTCATTTAATTGCAGGGAGAGAGAGGGTTTCCAGGTTTGGAAGGACACCCAGGATTGCCTGGATTTCCAGGTCCAGAAGGGCCTCCGGGGCCTCGGGGACAAAAGGTATGTATCATGTTGCCAACCAGTAATGCCAGATG control 96 60 0 0 0 1271 1677 0.04150857 0.001257159 0.02138286 0.9937313 0.9913224 0.9677654 0.9924018 -0.9937313 -0.9913224 -0.9262569 -0.9911446 0.9925268 0.9800836 -0.9925268 -0.9587007 0.03382609 TRUE TRUE NA NA NA NA NA COL4A5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A5 NA NA NA ENSG00000188153 ENSE00003486836 NA NA NA NA NA NA NA 0.9999183 TRUE NA ENSE00001453940_000 ENSE00001453940 000 20 60573141 60573310 - 51 57 62 NA NA NA NA NA TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 NA NA NA NA NA NA TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG natural NA NA NA NA NA 279 1643 0.9932315 0.9904403 0.9918359 NA NA 0.9932315 0.9904403 NA NA 0 0 NA 0.9918359 NA 0 NA FALSE NA NA NA NA NA NA TAF4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAF4 NA NA NA ENSG00000130699 ENSE00003705897 NA NA NA NA NA NA NA 0.9994871 TRUE NA ENSE00001453940_001 ENSE00001453940 001 20 60573141 60573310 - 51 57 62 C G 60573151 1893 160 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTCTGCACTGTAG 61998084 61998254 61998094 61998095 61998095 downstr_intron 41 1.82 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTCTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 59 137 1 1 1 NA NA 0.9932315 0.9904403 NA NA 0.006768481 0.009559656 NA 0.9918359 NA 0.008164069 NA FALSE NA 0 -1.878 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 13/14 1 NA ACA C,G 8.236e-06 20:61998095 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.027709 0.14093 0.03894 0.156188 0.4664753 0.0447131 0.9994871 TRUE 4.12215e-06 ENSE00001453940_004 ENSE00001453940 004 20 60573141 60573310 - 51 57 62 A G 60573155 1896 156 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTCGCTGTGCACTGTAG 61998084 61998254 61998098 61998099 61998099 downstr_intron 37 1.74 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTCGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 1174 296 0.998802 0.9973728 0.9980874 NA NA 0.9932315 0.9904403 NA NA 0.005570511 0.006932466 NA 0.9918359 NA 0.006251488 NA FALSE NA 0 -1.244 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 13/14 rs368236053 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 CAA A,G 3.295e-05 20:61998099 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant -0.036573 0.13398 0.01597 0.295142 0.2932923 0.0447131 0.9994871 TRUE 2.87111e-05 ENSE00001453940_005 ENSE00001453940 005 20 60573141 60573310 - 51 57 62 C T 60573165 1897 146 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCATGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998108 61998109 61998109 downstr_intron 27 1.54 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCATGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 1003 805 0.1429095 0.001026323 0.07196789 NA NA 0.9932315 0.9904403 NA NA -0.8503221 -0.989414 NA 0.9918359 NA -0.919868 NA TRUE NA 0.001 0.388 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 13/14 rs372000436 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 ACG C,T 3.295e-05 20:61998109 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.415874 0.21951 0.1387 0.295142 0.497786 0.076545 0.9994871 TRUE 1.63055e-05 ENSE00001453940_006 ENSE00001453940 006 20 60573141 60573310 - 51 57 62 G A 60573166 1898 145 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTTGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998109 61998110 61998110 downstr_intron 26 1.52 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTTGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 519 145 0.8418877 1 0.9209439 NA NA 0.9932315 0.9904403 NA NA -0.1513438 0.009559656 NA 0.9918359 NA -0.07089206 NA FALSE NA 0.001 -0.858 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 13/14 rs377102223 1 NA A:0.0005 A:0 CGA G,A 5.765e-05 20:61998110 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.199275 0.22358 0.08709 0.295142 0.5092975 0.0447131 0.9994871 TRUE 8.56046e-05 ENSE00001453940_008 ENSE00001453940 008 20 60573141 60573310 - 51 57 62 C T 60573175 1900 136 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCATGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998118 61998119 61998119 downstr_intron 17 1.34 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCATGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 142 487 0.9945595 1 0.9972798 NA NA 0.9932315 0.9904403 NA NA 0.001328004 0.009559656 NA 0.9918359 NA 0.00544383 NA FALSE NA 0 -4.034 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 13/14 rs369143235 1 T:0.0036 T:0 T:0 NA T:0 T:0 T:0.0184 ACG C,T 0.001392 20:61998119 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant -0.166487 0.11039 0.00959 0.295142 0.6216842 0.0447131 0.9994871 TRUE 0.00108176 ENSE00001453940_009 ENSE00001453940 009 20 60573141 60573310 - 51 57 62 G A 60573176 1901 135 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTTGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998119 61998120 61998120 downstr_intron 16 1.32 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTTGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 30 174 1 1 1 NA NA 0.9932315 0.9904403 NA NA 0.006768481 0.009559656 NA 0.9918359 NA 0.008164069 NA FALSE NA 0 -0.775 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 13/14 rs368030373 1 NA A:0.0009 A:0.0001 CGA G,A 8.236e-05 20:61998120 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.424472 0.22702 0.02999 0.295142 0.6449539 0.0447131 0.9994871 TRUE 6.91113e-05 ENSE00001453940_011 ENSE00001453940 011 20 60573141 60573310 - 51 57 62 T C 60573179 1903 132 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTGGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998122 61998123 61998123 downstr_intron 13 1.26 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTGGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 380 656 1 0.9986469 0.9993234 NA NA 0.9932315 0.9904403 NA NA 0.006768481 0.008206528 NA 0.9918359 NA 0.007487505 NA FALSE NA 0 0.015 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 13/14 1 NA CTA T,C 8.236e-06 20:61998123 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.133589 0.27305 0.02701 0.295142 0.452189 0.0447131 0.9994871 TRUE 4.06418e-06 ENSE00001453940_012 ENSE00001453940 012 20 60573141 60573310 - 51 57 62 C T 60573219 1904 92 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAATTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998162 61998163 61998163 exon -28 0.5263158 TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAATTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 843 96 0.9997693 1 0.9998846 NA NA 0.9932315 0.9904403 NA NA 0.006537775 0.009559656 NA 0.9918359 NA 0.008048715 NA FALSE NA 0.715 -0.137 . synonymous_variant LOW TAF4 HGNC 11537 ENST00000252996 13/15 1 NA ACT C,T 8.236e-06 20:61998163 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 synonymous_variant 1.496297 0.90213 0.43973 0.732398 0.4795502 0 0.9994871 TRUE 4.06336e-06 ENSE00001453940_013 ENSE00001453940 013 20 60573141 60573310 - 51 57 62 G A 60573286 1905 25 TTGTTAAATGATAAACATTTAGTTTATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998229 61998230 61998230 upstr_intron -38 -0.5967742 TTGTTAAATGATAAACATTTAGTTTATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 10 203 1 0.9998123 0.9999062 NA NA 0.9932315 0.9904403 NA NA 0.006768481 0.009371964 NA 0.9918359 NA 0.008070223 NA FALSE NA 0 0.117 rs28382119 intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 12/14 rs28382119 1 A:0.0166 A:0.0605 A:0.0043 NA A:0 A:0 A:0 A:0.0511 A:0.0003 TGA G,A 0.004901 20:61998230 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.565374 0.18497 0.11617 0.106106 0.7512389 0.119646 0.9994871 TRUE 0.00398546 ENSE00001453940_014 ENSE00001453940 014 20 60573141 60573310 - 51 57 62 A T 60573288 1906 23 TTGTTAAATGATAAACATTTAGATCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998231 61998232 61998232 upstr_intron -40 -0.6290323 TTGTTAAATGATAAACATTTAGATCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 872 196 0.9901593 1 0.9950796 NA NA 0.9932315 0.9904403 NA NA -0.003072227 0.009559656 NA 0.9918359 NA 0.003243715 NA FALSE NA 0 -0.647 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 12/14 1 NA AAC A,T 8.236e-06 20:61998232 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.041479 0.15493 0.03431 0.106106 0.7528426 0.0714558 0.9994871 TRUE 8.36617e-06 ENSE00001453940_015 ENSE00001453940 015 20 60573141 60573310 - 51 57 62 C G 60573289 1907 22 TTGTTAAATGATAAACATTTACTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998232 61998233 61998233 upstr_intron -41 -0.6451613 TTGTTAAATGATAAACATTTACTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 772 284 0.841522 0.9740815 0.9078017 NA NA 0.9932315 0.9904403 NA NA -0.1517095 -0.01635889 NA 0.9918359 NA -0.08403422 NA FALSE NA 0 -0.378 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 12/14 rs372146792 1 G:0.0052 G:0 G:0 NA G:0 G:0 G:0.0266 ACT C,G 0.002438 20:61998233 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.250475 0.24642 0.12119 0.106106 0.6509071 0.0904331 0.9994871 TRUE 0.00232013 ENSE00001453940_016 ENSE00001453940 016 20 60573141 60573310 - 51 57 62 A C 60573291 1908 20 TTGTTAAATGATAAACATTGAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 61998234 61998235 61998235 upstr_intron -43 -0.6774194 TTGTTAAATGATAAACATTGAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG mutant NA NA NA NA NA 887 239 0.9994419 1 0.999721 NA NA 0.9932315 0.9904403 NA NA 0.006210393 0.009559656 NA 0.9918359 NA 0.007885025 NA FALSE NA 0 0.156 . intron_variant MODIFIER TAF4 HGNC 11537 ENST00000252996 12/14 1 NA TAA A,C 1.647e-05 20:61998235 TAF4 HGNC Symbol protein_coding 112341 ENSG00000130699 ENSE00003705897 intron_variant 0.131606 0.18731 0.03517 0.106106 0.7432688 0.0917733 0.9994871 TRUE 8.42652e-06 ENSE00001453940_BRK ENSE00001453940 BRK 20 60573141 60573310 - 51 57 62 A,G; T,T NA NA NA TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATTTTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGCCGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG 61998084 61998254 NA NA NA NA NA NA TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATTTTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGCCGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG TTGTTAAATGATAAACATTTAGTTCATAACTTACTTTTCTTTTCTGCCTCTTTCAAAAATAGTCTCGGTCAAGACAAGAAGATCCAGAACAGTTAAGGCTGAAACAGAAGGCAAAGGAGGTGAGCCCTGTTAGTCGTGAGTGCTCGTGGGCACTTTGCTGTGCACTGTAG control NA NA NA NA NA 275 244 0.1746212 0.001313472 0.08796733 NA NA 0.9932315 0.9904403 NA NA -0.8186103 -0.9891269 NA 0.9918359 NA -0.9038686 NA TRUE NA NA NA NA NA NA TAF4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAF4 NA NA NA ENSG00000130699 ENSE00003705897 NA NA NA NA NA NA NA 0.9994871 TRUE NA ENSE00001461269_000 ENSE00001461269 000 2 228118769 228118938 + 59 63 48 NA NA NA NA NA GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 NA NA NA NA NA NA TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC natural 175 344 0.8470142 0.8779541 0.8624841 5295 2001 0.961352 0.9454277 0.9533898 0.8470142 0.8779541 0.961352 0.9454277 0 0 0 0 0.8624841 0.9533898 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001461269 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001461269_020 ENSE00001461269 020 2 228118769 228118938 + 59 63 48 A C 228118908 5097 140 GGCTCTACTTTATGTGTTATGGGGACAATAGAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254191 227254192 227254192 downstr_intron 18 1.382979 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTCTATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 962 608 0.9762367 0.9855246 0.9808806 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.01488468 0.04009692 0.8624841 0.9533898 NA 0.0274908 NA FALSE NA 0 -0.369 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001461269 intron_variant -0.004 0.1403 0.02549 0.074636 0.6762711 0.0448725 4.676361e-13 FALSE 2.44063e-05 ENSE00001461269_024 ENSE00001461269 024 2 228118769 228118938 + 59 63 48 A C 228118922 5101 154 GGCTCTACTTTATGTGGTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254205 227254206 227254206 downstr_intron 32 1.680851 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATACCACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 2363 929 0.9394401 0.8001016 0.8697708 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.02191191 -0.1453261 0.8624841 0.9533898 NA -0.08361902 NA FALSE NA 0.005 0.933 NA NA NA AC097662.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC097662.1 NA NA NA ENSG00000236432 ENSE00001461269 intron_variant -0.038721 0.22209 0.07864 0.074636 0.4005442 0.0448725 NA NA 4.07445e-06 ENSE00001461269_BRK ENSE00001461269 BRK 2 228118769 228118938 + 59 63 48 A,G; T,T NA NA NA GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTGGTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCAAGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 NA NA NA NA NA NA TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCTTGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCACCAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC control NA NA NA NA NA 950 2072 0 0.002791866 0.001395933 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.961352 -0.9426358 0.8624841 0.9533898 NA -0.9519939 NA TRUE NA NA NA NA NA NA AC097662.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC097662.1 NA NA NA ENSG00000236432 ENSE00001461269 NA NA NA NA NA NA NA NA NA NA ENSE00001461281_000 ENSE00001461281 000 2 228110611 228110780 + 59 63 48 NA NA NA NA NA TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 NA NA NA NA NA NA TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG natural 24 19 0.9853702 0.9918064 0.9885883 2612 2825 0.9936331 0.9878615 0.9907473 0.9853702 0.9918064 0.9936331 0.9878615 0 0 0 0 0.9885883 0.9907473 0 0 0 FALSE FALSE NA NA NA NA NA AC097662.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC097662.1 NA NA NA ENSG00000236432 ENSE00001461281 NA NA NA NA NA NA NA NA NA NA ENSE00001461313_000 ENSE00001461313 000 2 227973487 227973656 - 62 36 72 NA NA NA NA NA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 NA NA NA NA NA NA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA natural NA NA NA NA NA 1168 1282 0.9818169 0.9990962 0.9904566 NA NA 0.9818169 0.9990962 NA NA 0 0 NA 0.9904566 NA 0 NA FALSE NA NA NA NA NA NA COL4A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A4 NA NA NA ENSG00000081052 ENSE00001461313 NA NA NA NA NA NA NA 1.689779e-08 FALSE NA ENSE00001461313_001 ENSE00001461313 001 2 227973487 227973656 - 62 36 72 T C 227973506 4933 151 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAGTGAAATGGTTGACCACTGA 227108770 227108940 227108789 227108790 227108790 downstr_intron 43 1.704918 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAGTGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA mutant NA NA NA NA NA 53 102 1 1 1 NA NA 0.9818169 0.9990962 NA NA 0.01818309 0.0009038044 NA 0.9904566 NA 0.009543447 NA FALSE NA 0 -3.711 rs138960238 intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 11/46 rs138960238 1 C:0.0014 C:0 C:0 NA C:0.006 C:0 C:0.001 ATT T,C 0.0007534 2:227108790 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461313 intron_variant -0.202871 0.06412 0.00536 0.078448 0.48039 0.0689857 1.689779e-08 FALSE 0.000792393 ENSE00001461313_002 ENSE00001461313 002 2 227973487 227973656 - 62 36 72 G A 227973523 4934 134 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATTAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 227108806 227108807 227108807 downstr_intron 26 1.42623 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATTAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA mutant NA NA NA NA NA 112 71 0.965386 1 0.982693 NA NA 0.9818169 0.9990962 NA NA -0.01643093 0.0009038044 NA 0.9904566 NA -0.007763561 NA FALSE NA 0 -1.004 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 11/46 1 NA TGA G,A 8.279e-06 2:227108807 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461313 intron_variant 0.037542 0.14094 0.01043 0.078448 0.5631068 0.117477 1.689779e-08 FALSE NA ENSE00001461313_003 ENSE00001461313 003 2 227973487 227973656 - 62 36 72 A G 227973528 4935 129 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGACACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 227108811 227108812 227108812 downstr_intron 21 1.344262 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGACACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA mutant NA NA NA NA NA 294 1292 0.9511698 1 0.9755849 NA NA 0.9818169 0.9990962 NA NA -0.03064716 0.0009038044 NA 0.9904566 NA -0.01487168 NA FALSE NA 0 -0.124 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 11/46 1 NA TAT A,G 8.278e-06 2:227108812 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461313 intron_variant 0.058839 0.16089 0.02163 0.078448 0.6102746 0.117477 1.689779e-08 FALSE NA ENSE00001461313_007 ENSE00001461313 007 2 227973487 227973656 - 62 36 72 G T 227973559 4939 98 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCAAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 227108842 227108843 227108843 exon -11 0.7222222 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCAAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA mutant NA NA NA NA NA 93 39 0.995948 0.9505048 0.9732264 NA NA 0.9818169 0.9990962 NA NA 0.01413114 -0.04859144 NA 0.9904566 NA -0.01723015 NA FALSE NA 1 3.182 . missense_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 11/47 1 probably_damaging(0.999) NA TGG G,T 4.967e-05 2:227108843 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461313 missense_variant 4.281534 0.98648 0.90293 0.553676 0.9889888 0 1.689779e-08 FALSE NA ENSE00001461313_010 ENSE00001461313 010 2 227973487 227973656 - 62 36 72 G T 227973569 4942 88 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAAACAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 227108852 227108853 227108853 exon 16 0.4444444 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAAACAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA mutant NA NA NA NA NA 17 975 0.8 0.9983037 0.8991519 NA NA 0.9818169 0.9990962 NA NA -0.1818169 -0.000792461 NA 0.9904566 NA -0.09130469 NA FALSE NA 1 3.332 . missense_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 11/47 rs370606294 1 probably_damaging(0.999) NA T:0 T:0.0001 GGT G,T 2.484e-05 2:227108853 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461313 missense_variant 4.557134 0.97244 0.89416 0.553676 0.9945568 0 1.689779e-08 FALSE 1.64917e-05 ENSE00001461313_011 ENSE00001461313 011 2 227973487 227973656 - 62 36 72 C T 227973576 4943 81 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCAGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 227108859 227108860 227108860 exon 9 0.25 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCAGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA mutant NA NA NA NA NA 51 325 1 1 1 NA NA 0.9818169 0.9990962 NA NA 0.01818309 0.0009038044 NA 0.9904566 NA 0.009543447 NA FALSE NA 0.002 -3.505 rs111945121 synonymous_variant LOW COL4A4 HGNC 2206 ENST00000329662 11/47 rs111945121 1 T:0.0074 T:0.0257 T:0.0043 NA T:0 T:0 T:0 T:0.0185 T:0.0001 CCG C,T 0.001954 2:227108860 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461313 synonymous_variant 0.973622 0.06565 0.00274 0.553676 0.3064945 0 1.689779e-08 FALSE 0.00162281 ENSE00001461313_013 ENSE00001461313 013 2 227973487 227973656 - 62 36 72 C T 227973583 4945 74 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGAACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 227108866 227108867 227108867 exon 2 0.05555556 GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGAACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA mutant NA NA NA NA NA 35 15 1 0.95 0.975 NA NA 0.9818169 0.9990962 NA NA 0.01818309 -0.0490962 NA 0.9904566 NA -0.01545655 NA FALSE NA 1 3.879 . missense_variant&splice_region_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 11/47 1 probably_damaging(1) NA TCC C,T 8.279e-06 2:227108867 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461313 missense_variant 5.524327 0.98534 0.91966 0.553676 0.9973397 0 1.689779e-08 FALSE 4.13835e-06 ENSE00001461313_016 ENSE00001461313 016 2 227973487 227973656 - 62 36 72 T C 227973626 4948 31 GGTAACAAAAGAAGGCACATTCTGATTTCTGTGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 227108909 227108910 227108910 upstr_intron -42 -0.5694444 GGTAACAAAAGAAGGCACATTCTGATTTCTGTGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA mutant NA NA NA NA NA 54 25 1 1 1 NA NA 0.9818169 0.9990962 NA NA 0.01818309 0.0009038044 NA 0.9904566 NA 0.009543447 NA FALSE NA 0 -0.757 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 10/46 rs543108738 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATA T,C 8.281e-06 2:227108910 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461313 intron_variant -0.042529 0.11236 0.01144 0.078448 0.5268982 0.151315 1.689779e-08 FALSE 8.53009e-06 ENSE00001461313_BRK ENSE00001461313 BRK 2 227973487 227973656 - 62 36 72 A,G; T,T NA NA NA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTTTGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGCCAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA 227108770 227108940 NA NA NA NA NA NA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTTTGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGCCAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA GGTAACAAAAGAAGGCACATTCTGATTTCTATGTCTGATGATTGATTTGTGTTTTTTTCTCCCTTGATTTAGGGACCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAGGTAGGCAGTCATGAGCAAGATACATCAATAGAGCCCTGAACAATGAAATGGTTGACCACTGA control NA NA NA NA NA 194 100 0 0 0 NA NA 0.9818169 0.9990962 NA NA -0.9818169 -0.9990962 NA 0.9904566 NA -0.9904566 NA TRUE NA NA NA NA NA NA COL4A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A4 NA NA NA ENSG00000081052 ENSE00001461313 NA NA NA NA NA NA NA 1.689779e-08 FALSE NA ENSE00001461314_000 ENSE00001461314 000 2 227973892 227974061 - 48 63 59 NA NA NA NA NA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA 227109175 227109345 NA NA NA NA NA NA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA natural 27 50 0.85 0.85 0.85 640 2511 0.9610035 0.8359006 0.8984521 0.85 0.85 0.9610035 0.8359006 0 0 0 0 0.85 0.8984521 0 0 0 FALSE FALSE NA NA NA NA NA COL4A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A4 NA NA NA ENSG00000081052 ENSE00001461314 NA NA NA NA NA NA NA 1.689779e-08 FALSE NA ENSE00001461314_002 ENSE00001461314 002 2 227973892 227974061 - 48 63 59 C T 227973919 4951 143 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATATGATCCCTTTAAAAACCAGATTCTACA 227109175 227109345 227109202 227109203 227109203 downstr_intron 21 1.446809 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATATGATCCCTTTAAAAACCAGATTCTACA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA mutant NA NA NA NA NA 545 88 0.9598614 0.9811371 0.9704993 0.85 0.85 0.9610035 0.8359006 NA NA -0.001142119 0.1452365 0.85 0.8984521 NA 0.0720472 NA FALSE NA 0 -0.592 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 10/46 1 NA ACA C,T 8.275e-06 2:227109203 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461314 intron_variant 0.053714 0.13489 0.01781 0.078448 0.5571376 0.152352 1.689779e-08 FALSE 4.06418e-06 ENSE00001461314_003 ENSE00001461314 003 2 227973892 227974061 - 48 63 59 G A 227973924 4952 138 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGTTGATGTGATCCCTTTAAAAACCAGATTCTACA 227109175 227109345 227109207 227109208 227109208 downstr_intron 16 1.340426 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGTTGATGTGATCCCTTTAAAAACCAGATTCTACA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA mutant NA NA NA NA NA 186 206 0.960382 0.9701713 0.9652766 0.85 0.85 0.9610035 0.8359006 NA NA -0.0006215151 0.1342707 0.85 0.8984521 NA 0.06682457 NA FALSE NA 0 -0.623 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 10/46 1 NA AGC G,A 8.275e-06 2:227109208 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461314 intron_variant 0.324477 0.15901 0.02997 0.078448 0.6237771 0.152352 1.689779e-08 FALSE 4.06441e-06 ENSE00001461314_004 ENSE00001461314 004 2 227973892 227974061 - 48 63 59 G A 227973932 4953 130 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTATAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA 227109175 227109345 227109215 227109216 227109216 downstr_intron 8 1.170213 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTATAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA mutant NA NA NA NA NA 1675 457 0.8069044 0.8 0.8034522 0.85 0.85 0.9610035 0.8359006 NA NA -0.1540991 -0.03590062 0.85 0.8984521 NA -0.09499988 NA FALSE NA 0 0.077 . splice_region_variant&intron_variant LOW COL4A4 HGNC 2206 ENST00000329662 10/46 1 NA TGT G,A 8.276e-06 2:227109216 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461314 splice_region_variant 0.522431 0.15485 0.01485 0.078448 0.5504154 0.149779 1.689779e-08 FALSE 1.62577e-05 ENSE00001461314_010 ENSE00001461314 010 2 227973892 227974061 - 48 63 59 C G 227974002 4959 60 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGCGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA 227109175 227109345 227109285 227109286 227109286 exon 1 0.01587302 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGCGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA mutant NA NA NA NA NA 35 122 0 0 0 0.85 0.85 0.9610035 0.8359006 NA NA -0.9610035 -0.8359006 0.85 0.8984521 NA -0.8984521 NA TRUE NA 1 2.343 . missense_variant&splice_region_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 10/47 CM099458 1 probably_damaging(1) NA CCC C,G 8.276e-06 2:227109286 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461314 missense_variant 6.792309 0.98717 0.91091 0.553676 0.9993485 0 1.689779e-08 FALSE 4.06355e-06 ENSE00001461314_011 ENSE00001461314 011 2 227973892 227974061 - 48 63 59 A T 227974005 4960 57 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTAAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA 227109175 227109345 227109288 227109289 227109289 upstr_intron -3 -0.03389831 TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTAAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA mutant NA NA NA NA NA 262 159 0.004621097 0.03371107 0.01916608 0.85 0.85 0.9610035 0.8359006 NA NA -0.9563824 -0.8021895 0.85 0.8984521 NA -0.879286 NA TRUE NA 0.688 0.38 . splice_region_variant&intron_variant LOW COL4A4 HGNC 2206 ENST00000329662 9/46 1 NA TAA A,T 8.276e-06 2:227109289 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461314 splice_region_variant 1.448838 0.73928 0.27704 0.053691 0.8535761 0.29305 1.689779e-08 FALSE 8.12691e-06 ENSE00001461314_016 ENSE00001461314 016 2 227973892 227974061 - 48 63 59 G C 227974030 4965 32 TTCTGTGAAAGATGATTACAATTTTGGGTAAGAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA 227109175 227109345 227109313 227109314 227109314 upstr_intron -28 -0.4576271 TTCTGTGAAAGATGATTACAATTTTGGGTAAGAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA mutant NA NA NA NA NA 412 32 0.02127844 0.01018161 0.01573002 0.85 0.85 0.9610035 0.8359006 NA NA -0.9397251 -0.825719 0.85 0.8984521 NA -0.882722 NA TRUE NA 0 -0.478 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 9/46 rs567667400 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TGT G,C 8.275e-06 2:227109314 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461314 intron_variant -0.172317 0.19294 0.05187 0.053691 0.6019092 0.0647611 1.689779e-08 FALSE 4.06365e-06 ENSE00001461314_017 ENSE00001461314 017 2 227973892 227974061 - 48 63 59 G A 227974043 4966 19 TTCTGTGAAAGATGATTATAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA 227109175 227109345 227109326 227109327 227109327 upstr_intron -41 -0.6779661 TTCTGTGAAAGATGATTATAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA TTCTGTGAAAGATGATTACAATTTTGGGTAACAGATGCACTGATTTTTCTCATGTTTAGGGATCTTGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTGGTAAGTACAGCACTGCTGATGTGATCCCTTTAAAAACCAGATTCTACA mutant NA NA NA NA NA 1088 77 0.7112187 0.8609512 0.7860849 0.85 0.85 0.9610035 0.8359006 NA NA -0.2497848 0.02505061 0.85 0.8984521 NA -0.1123671 NA FALSE NA 0 -1.329 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 9/46 rs200548552 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0008 A:0 TGT G,A 5.792e-05 2:227109327 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461314 intron_variant 0.100817 0.09822 0.00179 0.053691 0.6410462 0.0647611 1.689779e-08 FALSE 7.72169e-05 ENSE00001461316_000 ENSE00001461316 000 2 227976332 227976501 - 62 36 72 NA NA NA NA NA TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 NA NA NA NA NA NA TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT natural 134 399 0.85 0.85 0.85 3665 1874 0.7909368 0.6229211 0.706929 0.85 0.85 0.7909368 0.6229211 0 0 0 0 0.85 0.706929 0 0 0 FALSE FALSE NA NA NA NA NA COL4A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A4 NA NA NA ENSG00000081052 ENSE00001461316 NA NA NA NA NA NA NA 1.689779e-08 FALSE NA ENSE00001461316_001 ENSE00001461316 001 2 227976332 227976501 - 62 36 72 A G 227976344 4967 158 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCCATGATCCACGTT 227111615 227111785 227111627 227111628 227111628 downstr_intron 50 1.819672 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCCATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 149 700 0.8288114 0.8 0.8144057 0.85 0.85 0.7909368 0.6229211 NA NA 0.0378746 0.1770789 0.85 0.706929 NA 0.1074767 NA FALSE NA 0 -1.192 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 9/46 1 NA TAG A,G 8.275e-06 2:227111628 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant -0.078987 0.13746 0.01771 0.078448 0.5022681 0.0443366 1.689779e-08 FALSE 4.06458e-06 ENSE00001461316_003 ENSE00001461316 003 2 227976332 227976501 - 62 36 72 T C 227976351 4969 151 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAGATAGCCTATGATCCACGTT 227111615 227111785 227111634 227111635 227111635 downstr_intron 43 1.704918 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAGATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 709 1046 0.8 0.8 0.8 0.85 0.85 0.7909368 0.6229211 NA NA 0.009063182 0.1770789 0.85 0.706929 NA 0.09307103 NA FALSE NA 0 -0.29 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 9/46 1 NA TTT T,C 8.275e-06 2:227111635 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant 0.051986 0.25497 0.01652 0.078448 0.3851816 0.0443366 1.689779e-08 FALSE 4.06421e-06 ENSE00001461316_006 ENSE00001461316 006 2 227976332 227976501 - 62 36 72 T C 227976371 4972 131 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTGTGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111654 227111655 227111655 downstr_intron 23 1.377049 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTGTGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 377 1198 0.8011118 0.8004221 0.8007669 0.85 0.85 0.7909368 0.6229211 NA NA 0.01017499 0.1775009 0.85 0.706929 NA 0.09383797 NA FALSE NA 0 -1.027 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 9/46 1 NA ATA T,C 8.276e-06 2:227111655 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant -0.04586 0.14093 0.0079 0.053691 0.4599267 0.0443366 1.689779e-08 FALSE 1.21926e-05 ENSE00001461316_007 ENSE00001461316 007 2 227976332 227976501 - 62 36 72 C T 227976376 4973 126 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGACTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111659 227111660 227111660 downstr_intron 18 1.295082 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGACTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 118 219 0.8928088 0.8890343 0.8909215 0.85 0.85 0.7909368 0.6229211 NA NA 0.101872 0.2661132 0.85 0.706929 NA 0.1839926 NA FALSE NA 0 -0.382 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 9/46 1 NA GCC C,T 8.276e-06 2:227111660 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant 1.234321 0.14408 0.01331 0.078448 0.6801182 0.1273 1.689779e-08 FALSE 4.06431e-06 ENSE00001461316_008 ENSE00001461316 008 2 227976332 227976501 - 62 36 72 G A 227976395 4974 107 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACTAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111678 227111679 227111679 exon -2 0.9722222 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACTAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 399 530 0.789388 0.8089818 0.7991849 0.85 0.85 0.7909368 0.6229211 NA NA -0.001548867 0.1860607 0.85 0.706929 NA 0.09225592 NA FALSE NA 1 5.465 . missense_variant&splice_region_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 9/47 1 probably_damaging(0.973) NA TGG G,A 1.655e-05 2:227111679 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 missense_variant 2.608501 0.98883 0.96526 0.553676 0.9982243 0 1.689779e-08 FALSE 8.12816e-06 ENSE00001461316_010 ENSE00001461316 010 2 227976332 227976501 - 62 36 72 C T 227976406 4976 96 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTACCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111689 227111690 227111690 exon -13 0.6666667 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTACCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 416 201 0.006574835 0.1270327 0.06680379 0.85 0.85 0.7909368 0.6229211 NA NA -0.784362 -0.4958884 0.85 0.706929 NA -0.6401252 NA TRUE NA 0.991 0.097 . synonymous_variant LOW COL4A4 HGNC 2206 ENST00000329662 9/47 1 NA GCA C,T 8.275e-06 2:227111690 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 synonymous_variant 1.118692 0.95533 0.32075 0.553676 0.5528102 0 1.689779e-08 FALSE 4.06382e-06 ENSE00001461316_012 ENSE00001461316 012 2 227976332 227976501 - 62 36 72 G A 227976415 4978 87 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGATCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111698 227111699 227111699 exon 15 0.4166667 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGATCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 641 417 0.7986853 0.8339298 0.8163075 0.85 0.85 0.7909368 0.6229211 NA NA 0.007748433 0.2110087 0.85 0.706929 NA 0.1093786 NA FALSE NA 1 1.073 . synonymous_variant LOW COL4A4 HGNC 2206 ENST00000329662 9/47 1 NA GGT G,A 8.276e-06 2:227111699 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 synonymous_variant 0.460277 0.96642 0.65428 0.553676 0.4563027 0 1.689779e-08 FALSE 1.2191e-05 ENSE00001461316_013 ENSE00001461316 013 2 227976332 227976501 - 62 36 72 C A 227976418 4979 84 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGTGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111701 227111702 227111702 exon 12 0.3333333 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGTGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 339 498 0.001444944 0.00064274 0.001043842 0.85 0.85 0.7909368 0.6229211 NA NA -0.7894919 -0.6222784 0.85 0.706929 NA -0.7058851 NA TRUE NA 0.906 0.117 . synonymous_variant LOW COL4A4 HGNC 2206 ENST00000329662 9/47 1 NA CCC C,A 8.277e-06 2:227111702 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 synonymous_variant 1.343866 0.95654 0.37974 0.553676 0.4463919 0 1.689779e-08 FALSE 4.06379e-06 ENSE00001461316_015 ENSE00001461316 015 2 227976332 227976501 - 62 36 72 T C 227976425 4981 77 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGGCAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111708 227111709 227111709 exon 5 0.1388889 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGGCAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 646 967 0.7991345 0.8541745 0.8266545 0.85 0.85 0.7909368 0.6229211 NA NA 0.008197632 0.2312534 0.85 0.706929 NA 0.1197255 NA FALSE NA 1 2.943 rs146817833 missense_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 9/47 rs146817833 1 probably_damaging(0.958) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GTC T,C 8.277e-06 2:227111709 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 missense_variant 4.636024 0.98628 0.92817 0.553676 0.9980755 0 1.689779e-08 FALSE 4.06395e-06 ENSE00001461316_016 ENSE00001461316 016 2 227976332 227976501 - 62 36 72 T A 227976431 4982 71 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCTGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111714 227111715 227111715 upstr_intron -2 -0.01388889 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCTGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 2062 678 0.0005284256 0.0009447369 0.0007365812 0.85 0.85 0.7909368 0.6229211 NA NA -0.7904084 -0.6219764 0.85 0.706929 NA -0.7061924 NA TRUE NA 1 4.424 . splice_acceptor_variant HIGH COL4A4 HGNC 2206 ENST00000329662 8/46 1 NA HC CTG T,A 8.276e-06 2:227111715 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 splice_acceptor_variant 4.875179 0.98666 0.95878 0.078448 0.9926085 0.974047 1.689779e-08 FALSE 8.12863e-06 ENSE00001461316_017 ENSE00001461316 017 2 227976332 227976501 - 62 36 72 T C 227976450 4983 52 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCGATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111733 227111734 227111734 upstr_intron -21 -0.2777778 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCGATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 116 556 0.8 0.8 0.8 0.85 0.85 0.7909368 0.6229211 NA NA 0.009063182 0.1770789 0.85 0.706929 NA 0.09307103 NA FALSE NA 0 -0.479 rs56306477 intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 8/46 rs56306477 1 C:0.0072 C:0.0008 C:0.0173 NA C:0 C:0.0209 C:0.002 C:0.0024 C:0.0139 TTG T,C 0.012 2:227111734 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant -0.249857 0.14785 0.0206 0.053691 0.4580411 0.0448725 1.689779e-08 FALSE 0.0124634 ENSE00001461316_018 ENSE00001461316 018 2 227976332 227976501 - 62 36 72 C A 227976460 4984 42 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGTACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111743 227111744 227111744 upstr_intron -31 -0.4166667 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGTACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 439 264 0.7984488 0.8009571 0.7997029 0.85 0.85 0.7909368 0.6229211 NA NA 0.007512 0.178036 0.85 0.706929 NA 0.09277398 NA FALSE NA 0 -1.154 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 8/46 1 NA TCC C,A 7.449e-05 2:227111744 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant 0.014578 0.23954 0.01481 0.053691 0.2746783 0.0448725 1.689779e-08 FALSE NA ENSE00001461316_020 ENSE00001461316 020 2 227976332 227976501 - 62 36 72 C T 227976463 4986 39 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTATGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111746 227111747 227111747 upstr_intron -34 -0.4583333 TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTATGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 63 129 0.8 0.8112249 0.8056124 0.85 0.85 0.7909368 0.6229211 NA NA 0.009063182 0.1883038 0.85 0.706929 NA 0.09868347 NA FALSE NA 0 -0.423 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 8/46 1 NA ACA C,T 1.655e-05 2:227111747 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant 0.083243 0.15582 0.00816 0.053691 0.5341763 0.0448725 1.689779e-08 FALSE 8.14538e-06 ENSE00001461316_021 ENSE00001461316 021 2 227976332 227976501 - 62 36 72 T A 227976474 4987 28 TTTCTATTTTTACATAATCTCTGTTTTTGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111757 227111758 227111758 upstr_intron -45 -0.6111111 TTTCTATTTTTACATAATCTCTGTTTTTGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 953 35 0.6905328 0.7700403 0.7302865 0.85 0.85 0.7909368 0.6229211 NA NA -0.100404 0.1471192 0.85 0.706929 NA 0.02335757 NA FALSE NA 0 -0.397 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 8/46 1 NA CTA T,A 3.311e-05 2:227111758 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant 0.100892 0.16461 0.0284 0.053691 0.7208023 0.0448725 1.689779e-08 FALSE NA ENSE00001461316_022 ENSE00001461316 022 2 227976332 227976501 - 62 36 72 G A 227976481 4988 21 TTTCTATTTTTACATAATCTTTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 227111764 227111765 227111765 upstr_intron -52 -0.7083333 TTTCTATTTTTACATAATCTTTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT mutant NA NA NA NA NA 394 2011 0.7786878 0.6447353 0.7117116 0.85 0.85 0.7909368 0.6229211 NA NA -0.012249 0.02181419 0.85 0.706929 NA 0.004782592 NA FALSE NA 0 -0.467 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 8/46 1 NA AGA G,A 4.139e-05 2:227111765 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461316 intron_variant 0.03086 0.20286 0.02192 0.053691 0.5899208 0.0455939 1.689779e-08 FALSE 4.5313e-05 ENSE00001461316_BRK ENSE00001461316 BRK 2 227976332 227976501 - 62 36 72 A,G; T,T NA NA NA TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCTTGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCACCAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT 227111615 227111785 NA NA NA NA NA NA TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCTTGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCACCAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT TTTCTATTTTTACATAATCTCTGTTTTAGGAACATTGTGTGGACTTAAAGCAATGCATTCTTATTTTTGCAGGGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCAGTAAGTCTCCTGAGCAGGCTCTATGCTTCTATTTCCTCCTCAAATAGCCTATGATCCACGTT control NA NA NA NA NA 659 262 0.00372535 0 0.001862675 0.85 0.85 0.7909368 0.6229211 NA NA -0.7872115 -0.6229211 0.85 0.706929 NA -0.7050663 NA TRUE NA NA NA NA NA NA COL4A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A4 NA NA NA ENSG00000081052 ENSE00001461316 NA NA NA NA NA NA NA 1.689779e-08 FALSE NA ENSE00001461320_000 ENSE00001461320 000 2 228004836 228005005 - 41 78 51 NA NA NA NA NA AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 NA NA NA NA NA NA GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT natural 332 131 0.7837643 0.8762596 0.8300119 4227 7764 0.9569575 0.9579948 0.9574761 0.7837643 0.8762596 0.9569575 0.9579948 0 0 0 0 0.8300119 0.9574761 0 0 0 FALSE FALSE NA NA NA NA NA COL4A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A4 NA NA NA ENSG00000081052 ENSE00001461320 NA NA NA NA NA NA NA 1.689779e-08 FALSE NA ENSE00001461320_001 ENSE00001461320 001 2 228004836 228005005 - 41 78 51 T A 228004846 4989 160 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCTTTCCTGAATT 227140119 227140289 227140129 227140130 227140130 downstr_intron 31 1.775 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCTTTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 819 483 0.9994964 1 0.9997482 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04253897 0.04200519 0.8300119 0.9574761 NA 0.04227208 NA FALSE NA 0 -1.282 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 4/46 1 NA ATG T,A 1.655e-05 2:227140130 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant 0.089347 0.13511 0.00546 0.074636 0.4169756 0.116125 1.689779e-08 FALSE 1.62543e-05 ENSE00001461320_002 ENSE00001461320 002 2 228004836 228005005 - 41 78 51 G C 228004850 4990 156 AATTCAGGAATGCTCCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140133 227140134 227140134 downstr_intron 27 1.675 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGGAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 1982 1076 0.9853912 0.9824157 0.9839034 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.02843376 0.02442085 0.8300119 0.9574761 NA 0.0264273 NA FALSE NA 0 0.021 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 4/46 rs371719472 1 NA C:0 C:0.0001 TGC G,C 8.275e-06 2:227140134 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant -0.197466 0.18767 0.0119 0.074636 0.4012921 0.116125 1.689779e-08 FALSE 2.03151e-05 ENSE00001461320_003 ENSE00001461320 003 2 228004836 228005005 - 41 78 51 G A 228004856 4991 150 AATTCAGGAATGCTGCCCATATTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140139 227140140 227140140 downstr_intron 21 1.525 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAATATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 949 2007 0.9985162 0.9967656 0.9976409 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04155872 0.03877076 0.8300119 0.9574761 NA 0.04016474 NA FALSE NA 0 0.147 rs74920785 intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 4/46 rs74920785 1 A:0.0024 A:0.0083 A:0.0014 NA A:0 A:0 A:0 A:0.0045 A:0.0001 TGT G,A 0.0005296 2:227140140 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant 0.107204 0.15553 0.00852 0.074636 0.3439446 0.117417 1.689779e-08 FALSE 0.000446886 ENSE00001461320_004 ENSE00001461320 004 2 228004836 228005005 - 41 78 51 C T 228004877 4992 129 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACTCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140160 227140161 227140161 exon -1 1 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGAGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 328 376 0.00266611 0.02039846 0.01153229 0.7837643 0.8762596 0.9569575 0.9579948 NA NA -0.9542914 -0.9375963 0.8300119 0.9574761 NA -0.9459439 NA TRUE NA 1 2.373 . splice_region_variant&synonymous_variant LOW COL4A4 HGNC 2206 ENST00000329662 4/47 1 NA CCC C,T 8.275e-06 2:227140161 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 splice_region_variant 2.524744 0.98538 0.76449 0.553676 0.9433842 0 1.689779e-08 FALSE 1.62467e-05 ENSE00001461320_005 ENSE00001461320 005 2 228004836 228005005 - 41 78 51 C T 228004878 4993 128 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCTGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140161 227140162 227140162 exon -2 0.9871795 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCAGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 949 951 0.996955 1 0.9984775 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.03999755 0.04200519 0.8300119 0.9574761 NA 0.04100137 NA FALSE NA 1 2.36 . missense_variant&splice_region_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 4/47 rs371326070&COSM1669816 1 probably_damaging(0.995) NA T:0.0011 T:0 CCG C,T 3.31e-05 2:227140162 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 missense_variant 5.066217 0.97077 0.74948 0.553676 0.9988365 0 1.689779e-08 FALSE 1.62462e-05 ENSE00001461320_006 ENSE00001461320 006 2 228004836 228005005 - 41 78 51 G A 228004879 4994 127 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCAAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140162 227140163 227140163 exon -3 0.974359 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTTGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 46 724 0.9945054 0.9855193 0.9900123 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.03754791 0.02752447 0.8300119 0.9574761 NA 0.03253619 NA FALSE NA 1 1.389 . missense_variant&splice_region_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 4/47 rs200668675 1 probably_damaging(0.997) NA CGA G,A 2.482e-05 2:227140163 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 missense_variant 7.175945 0.97144 0.71458 0.553676 0.9988679 0 1.689779e-08 FALSE 4.46777e-05 ENSE00001461320_007 ENSE00001461320 007 2 228004836 228005005 - 41 78 51 C G 228004883 4995 123 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGAGCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140166 227140167 227140167 exon -7 0.9230769 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGCTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 418 314 1 0.9984087 0.9992043 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04304253 0.04041386 0.8300119 0.9574761 NA 0.0417282 NA FALSE NA 0.534 -1.02 . synonymous_variant LOW COL4A4 HGNC 2206 ENST00000329662 4/47 1 NA ACC C,G 8.274e-06 2:227140167 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 synonymous_variant 1.367501 0.78645 0.15449 0.553676 0.6420371 0 1.689779e-08 FALSE NA ENSE00001461320_009 ENSE00001461320 009 2 228004836 228005005 - 41 78 51 C A 228004905 4997 101 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGAAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140188 227140189 227140189 exon -29 0.6410256 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTTCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 980 386 0.8345471 0.9528537 0.8937004 0.7837643 0.8762596 0.9569575 0.9579948 NA NA -0.1224104 -0.005141103 0.8300119 0.9574761 NA -0.06377573 NA FALSE NA 1 3.804 . missense_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 4/47 rs570529667 1 probably_damaging(0.998) A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 GCA C,A 1.655e-05 2:227140189 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 missense_variant 6.366164 0.98593 0.89418 0.553676 0.9912281 0 1.689779e-08 FALSE 2.03075e-05 ENSE00001461320_011 ENSE00001461320 011 2 228004836 228005005 - 41 78 51 G C 228004911 4999 95 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACACAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140194 227140195 227140195 exon -35 0.5641026 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTGTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 474 569 1 0.9989226 0.9994613 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04304253 0.04092782 0.8300119 0.9574761 NA 0.04198518 NA FALSE NA 0.997 3.237 . missense_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 4/47 1 probably_damaging(0.995) NA AGA G,C 1.655e-05 2:227140195 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 missense_variant 4.756055 0.97411 0.87581 0.553676 0.9872977 0 1.689779e-08 FALSE 8.12315e-06 ENSE00001461320_012 ENSE00001461320 012 2 228004836 228005005 - 41 78 51 C A 228004914 5000 92 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGAAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140197 227140198 227140198 exon -38 0.525641 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTTCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 547 217 0.8067557 0.9585709 0.8826633 0.7837643 0.8762596 0.9569575 0.9579948 NA NA -0.1502017 0.0005760807 0.8300119 0.9574761 NA -0.07481283 NA FALSE NA 1 3.804 . missense_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 4/47 1 probably_damaging(0.998) NA GCA C,A 8.275e-06 2:227140198 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 missense_variant 6.643575 0.98593 0.89418 0.553676 0.9913456 0 1.689779e-08 FALSE 1.21845e-05 ENSE00001461320_013 ENSE00001461320 013 2 228004836 228005005 - 41 78 51 T C 228004922 5001 84 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTCCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140205 227140206 227140206 exon 33 0.4230769 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGGAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 209 205 0.4259334 0.413497 0.4197152 0.7837643 0.8762596 0.9569575 0.9579948 NA NA -0.5310241 -0.5444979 0.8300119 0.9574761 NA -0.537761 NA TRUE NA 1 1.088 . synonymous_variant LOW COL4A4 HGNC 2206 ENST00000329662 4/47 1 NA TTC T,C 8.274e-06 2:227140206 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 synonymous_variant 0.31218 0.96767 0.62957 0.553676 0.7361736 0 1.689779e-08 FALSE 4.06144e-06 ENSE00001461320_014 ENSE00001461320 014 2 228004836 228005005 - 41 78 51 G T 228004933 5002 73 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGTACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140216 227140217 227140217 exon 22 0.2820513 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTACTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 342 649 0.8368234 0.8011677 0.8189955 0.7837643 0.8762596 0.9569575 0.9579948 NA NA -0.1201341 -0.1568271 0.8300119 0.9574761 NA -0.1384806 NA FALSE NA 0.046 2.279 . missense_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 4/47 rs374836502&COSM3578448 1 probably_damaging(0.945) NA T:0.0008 T:0 GGA G,T 3.31e-05 2:227140217 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 missense_variant 4.425569 0.37326 0.11215 0.638212 0.9974728 0 1.689779e-08 FALSE 3.24936e-05 ENSE00001461320_015 ENSE00001461320 015 2 228004836 228005005 - 41 78 51 C A 228004936 5003 70 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACAAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140219 227140220 227140220 exon 19 0.2435897 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTTGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 2098 542 0.8851784 0.9712774 0.9282279 0.7837643 0.8762596 0.9569575 0.9579948 NA NA -0.07177902 0.01328257 0.8300119 0.9574761 NA -0.02924822 NA FALSE NA 0.005 0.576 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:227140220 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 missense_variant 4.380756 0.25631 0.06397 0.638212 0.9911894 0 1.689779e-08 FALSE 8.12367e-06 ENSE00001461320_016 ENSE00001461320 016 2 228004836 228005005 - 41 78 51 C G 228004936 5004 70 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACGAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140219 227140220 227140220 exon 19 0.2435897 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTCGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 987 1896 0.9989051 0.9192978 0.9591014 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04194762 -0.03869702 0.8300119 0.9574761 NA 0.001625296 NA FALSE NA 0.005 0.576 NA NA NA COL4A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A4 NA NA NA ENSG00000081052 ENSE00001461320 missense_variant 3.826608 0.25887 0.06873 0.638212 0.9986811 0 1.689779e-08 FALSE 4.06184e-06 ENSE00001461320_017 ENSE00001461320 017 2 228004836 228005005 - 41 78 51 C T 228004950 5005 56 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTTCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140233 227140234 227140234 exon 5 0.06410256 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGAAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 650 551 1 0.9896839 0.994842 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04304253 0.0316891 0.8300119 0.9574761 NA 0.03736582 NA FALSE NA 1 0.89 . missense_variant MODERATE COL4A4 HGNC 2206 ENST00000329662 4/47 rs370128179&COSM1531070 1 probably_damaging(0.939) NA T:0.0003 T:0 TCC C,T 8.275e-06 2:227140234 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 missense_variant 3.955425 0.97698 0.67025 0.638212 0.9929111 0 1.689779e-08 FALSE 4.06207e-06 ENSE00001461320_018 ENSE00001461320 018 2 228004836 228005005 - 41 78 51 G A 228004964 5006 42 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTAAAGCATCTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140247 227140248 227140248 upstr_intron -10 -0.1764706 GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTTACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 436 1594 0.9968429 0.9999761 0.9984095 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.03988545 0.04198131 0.8300119 0.9574761 NA 0.04093338 NA FALSE NA 0.178 0.14 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 3/46 1 NA TGA G,A 1.655e-05 2:227140248 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant 1.706419 0.1709 0.02437 0.061011 0.7460434 0.377515 1.689779e-08 FALSE 8.12533e-06 ENSE00001461320_019 ENSE00001461320 019 2 228004836 228005005 - 41 78 51 C T 228004971 5007 35 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATTTTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140254 227140255 227140255 upstr_intron -17 -0.3137255 GTAGTTAAACGATGAGTACTGGTATACTAAATAAAATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 1013 415 0.9985694 0.9991704 0.9988699 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04161191 0.04117557 0.8300119 0.9574761 NA 0.04139374 NA FALSE NA 0 -0.69 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 3/46 rs373374906 1 NA T:0.0003 T:0 TCT C,T 1.655e-05 2:227140255 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant 1.727675 0.17748 0.04405 0.061011 0.7889768 0.288039 1.689779e-08 FALSE 4.06303e-06 ENSE00001461320_020 ENSE00001461320 020 2 228004836 228005005 - 41 78 51 T G 228004972 5008 34 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCGTATTTAGTATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140255 227140256 227140256 upstr_intron -18 -0.3333333 GTAGTTAAACGATGAGTACTGGTATACTAAATACGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 531 959 1 0.9977055 0.9988527 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04304253 0.03971064 0.8300119 0.9574761 NA 0.04137659 NA FALSE NA 0 0.469 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 3/46 1 NA CTT T,G 1.655e-05 2:227140256 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant 1.759602 0.2411 0.06097 0.061011 0.8446107 0.288039 1.689779e-08 FALSE 2.03164e-05 ENSE00001461320_021 ENSE00001461320 021 2 228004836 228005005 - 41 78 51 T C 228004980 5009 26 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGCATACCAGTACTCATCGTTTAACTAC 227140119 227140289 227140263 227140264 227140264 upstr_intron -26 -0.4901961 GTAGTTAAACGATGAGTACTGGTATGCTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 1974 199 0.954734 0.9066652 0.9306996 0.7837643 0.8762596 0.9569575 0.9579948 NA NA -0.00222346 -0.05132963 0.8300119 0.9574761 NA -0.02677655 NA FALSE NA 0.516 0.493 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 3/46 1 NA GTA T,C 8.275e-06 2:227140264 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant 1.059179 0.2682 0.24192 0.061011 0.6901163 0.288039 1.689779e-08 FALSE 8.12902e-06 ENSE00001461320_023 ENSE00001461320 023 2 228004836 228005005 - 41 78 51 C T 228004990 5011 16 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTATTCATCGTTTAACTAC 227140119 227140289 227140273 227140274 227140274 upstr_intron -36 -0.6862745 GTAGTTAAACGATGAATACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 121 945 0.9832473 0.8630796 0.9231634 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.0262898 -0.09491524 0.8300119 0.9574761 NA -0.03431272 NA FALSE NA 0 0.111 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 3/46 1 NA ACT C,T 8.275e-06 2:227140274 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant 0.361004 0.1785 0.00636 0.061011 0.7398773 0.152352 1.689779e-08 FALSE 1.22124e-05 ENSE00001461320_024 ENSE00001461320 024 2 228004836 228005005 - 41 78 51 C T 228004995 5012 11 AATTCAGGAATGCTGCCCATGTTGGTCTTTACATCACTTACCCGAGACCCCTTTTCAGGAACACAGTGGCAAACAGAGCAATCTCTTCCTCCACAAGGACCAATGTATTTCTTTCCACTCTGGAAAGTGAAGCATCTTATTTAGTATACCAGTACTCATTGTTTAACTAC 227140119 227140289 227140278 227140279 227140279 upstr_intron -41 -0.7843137 GTAGTTAAACAATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT mutant NA NA NA NA NA 663 148 1 0.9957767 0.9978884 0.7837643 0.8762596 0.9569575 0.9579948 NA NA 0.04304253 0.0377819 0.8300119 0.9574761 NA 0.04041222 NA FALSE NA 0 -0.229 . intron_variant MODIFIER COL4A4 HGNC 2206 ENST00000329662 3/46 1 NA TCG C,T 8.275e-06 2:227140279 COL4A4 HGNC Symbol protein_coding 161742 ENSG00000081052 ENSE00001461320 intron_variant -0.42346 0.16842 0.06058 0.061011 0.7185757 0.151247 1.689779e-08 FALSE 1.22637e-05 ENSE00001461320_BRK ENSE00001461320 BRK 2 228004836 228005005 - 41 78 51 A,G; T,T NA NA NA GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCTTAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGCCAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT 227140119 227140289 NA NA NA NA NA NA GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCTTAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGCCAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT GTAGTTAAACGATGAGTACTGGTATACTAAATAAGATGCTTCACTTTCCAGAGTGGAAAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAAAAGGGGTCTCGGGTAAGTGATGTAAAGACCAACATGGGCAGCATTCCTGAATT control 92 162 0 0 0 591 196 0 0 0 0.7837643 0.8762596 0.9569575 0.9579948 -0.7837643 -0.8762596 -0.9569575 -0.9579948 0.8300119 0.9574761 -0.8300119 -0.9574761 0.1274642 TRUE TRUE NA NA NA NA NA COL4A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL4A4 NA NA NA ENSG00000081052 ENSE00001461320 NA NA NA NA NA NA NA 1.689779e-08 FALSE NA ENSE00001464882_000 ENSE00001464882 000 2 189933482 189933651 - 30 99 41 NA NA NA NA NA GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 NA NA NA NA NA NA GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC natural 216 433 0.8346226 0.7623572 0.7984899 1867 796 0.8984806 0.935192 0.9168363 0.8346226 0.7623572 0.8984806 0.935192 0 0 0 0 0.7984899 0.9168363 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464882 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464882_002 ENSE00001464882 002 2 189933482 189933651 - 30 99 41 T C 189933498 3806 154 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCGTATTTAAGAACCAGCC 189068755 189068925 189068771 189068772 189068772 downstr_intron 14 1.482759 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCGTATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 36 135 0.8089152 0.9066098 0.8577625 0.8346226 0.7623572 0.8984806 0.935192 NA NA -0.08956543 -0.02858224 0.7984899 0.9168363 NA -0.05907383 NA FALSE NA 0 -0.431 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 19/53 rs552621350 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T 8.237e-06 2:189068772 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant -0.045362 0.23922 0.01474 0.062308 0.3821287 0.044906 1 TRUE 4.07256e-06 ENSE00001464882_003 ENSE00001464882 003 2 189933482 189933651 - 30 99 41 G A 189933499 3807 153 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGTATATTTAAGAACCAGCC 189068755 189068925 189068772 189068773 189068773 downstr_intron 13 1.448276 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGTATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 1097 247 0.9506908 0.9474779 0.9490843 0.8346226 0.7623572 0.8984806 0.935192 NA NA 0.05221015 0.01228588 0.7984899 0.9168363 NA 0.03224802 NA FALSE NA 0 -1.395 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 19/53 1 NA TGC G 8.237e-06 2:189068773 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant 0.152225 0.20379 0.0207 0.062308 0.2386582 0.044906 1 TRUE 4.07292e-06 ENSE00001464882_004 ENSE00001464882 004 2 189933482 189933651 - 30 99 41 C T 189933500 3808 152 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAACATATTTAAGAACCAGCC 189068755 189068925 189068773 189068774 189068774 downstr_intron 12 1.413793 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAACATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 676 1834 0.9633254 0.9817048 0.9725151 0.8346226 0.7623572 0.8984806 0.935192 NA NA 0.06484481 0.04651282 0.7984899 0.9168363 NA 0.05567882 NA FALSE NA 0.001 1.425 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 19/53 1 NA GCT C 8.237e-06 2:189068774 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant 0.079519 0.24907 0.05907 0.062308 0.2682793 0.044906 1 TRUE 1.22181e-05 ENSE00001464882_005 ENSE00001464882 005 2 189933482 189933651 - 30 99 41 C T 189933532 3809 120 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAATTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068805 189068806 189068806 exon -21 0.7979798 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAATTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 1849 57 0.8954704 0.9025979 0.8990341 0.8346226 0.7623572 0.8984806 0.935192 NA NA -0.003010225 -0.03259414 0.7984899 0.9168363 NA -0.01780218 NA FALSE NA 0.047 0.414 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 19/54 1 benign(0.444) NA ACT C 8.237e-06 2:189068806 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 missense_variant 4.491874 0.98328 0.43822 0.706548 0.9962208 0 1 TRUE 8.14558e-06 ENSE00001464882_006 ENSE00001464882 006 2 189933482 189933651 - 30 99 41 G A 189933540 3810 112 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCTAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068813 189068814 189068814 exon -29 0.7171717 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCTAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 1210 330 0.8001332 0.8 0.8000666 0.8346226 0.7623572 0.8984806 0.935192 NA NA -0.09834746 -0.135192 0.7984899 0.9168363 NA -0.1167697 NA FALSE NA 0.957 1.586 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 19/54 1 possibly_damaging(0.613) NA TGG G 8.237e-06 2:189068814 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 missense_variant 4.474063 0.73423 0.84486 0.706548 0.9985896 0 1 TRUE 4.07302e-06 ENSE00001464882_008 ENSE00001464882 008 2 189933482 189933651 - 30 99 41 G C 189933544 3812 108 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGGCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068817 189068818 189068818 exon -33 0.6767677 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGGCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 101 423 0.9436678 0.9286973 0.9361826 0.8346226 0.7623572 0.8984806 0.935192 NA NA 0.04518721 -0.006494712 0.7984899 0.9168363 NA 0.01934625 NA FALSE NA 0.363 2.749 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 19/54 1 probably_damaging(0.945) NA GGC G 8.237e-06 2:189068818 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 missense_variant 1.985106 0.473 0.7576 0.706548 0.9129139 0 1 TRUE 4.07352e-06 ENSE00001464882_010 ENSE00001464882 010 2 189933482 189933651 - 30 99 41 C T 189933587 3814 65 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCACGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068860 189068861 189068861 exon 24 0.2424242 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCACGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 11 235 0.9372257 0.9424712 0.9398485 0.8346226 0.7623572 0.8984806 0.935192 NA NA 0.0387451 0.007279238 0.7984899 0.9168363 NA 0.02301217 NA FALSE NA 0 -2.236 rs148229627 synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 19/54 rs148229627&COSM1404026 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 T:0 T:0.0003 GCG C 0.0003131 2:189068861 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 synonymous_variant 2.557545 0.1158 0.02331 0.706548 0.6083574 0 1 TRUE 0.000330799 ENSE00001464882_011 ENSE00001464882 011 2 189933482 189933651 - 30 99 41 G A 189933588 3815 64 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGTGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068861 189068862 189068862 exon 23 0.2323232 GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGTGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 1900 15 1 0.8 0.9 0.8346226 0.7623572 0.8984806 0.935192 NA NA 0.1015194 -0.135192 0.7984899 0.9168363 NA -0.01683632 NA FALSE NA 0.996 2.962 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 19/54 rs370121305&COSM1201932 1 possibly_damaging(0.812) NA CGC G 8.238e-06 2:189068862 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 missense_variant 5.542916 0.98561 0.94068 0.706548 0.9992099 0 1 TRUE 8.1672e-06 ENSE00001464882_013 ENSE00001464882 013 2 189933482 189933651 - 30 99 41 T C 189933620 3817 32 GTATTTTTCTTAAATTAACATTTCCCTTTGCGCCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068893 189068894 189068894 upstr_intron -10 -0.2195122 GTATTTTTCTTAAATTAACATTTCCCTTTGCGCCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 88 1608 0.7791742 0.7989135 0.7890438 0.8346226 0.7623572 0.8984806 0.935192 NA NA -0.1193065 -0.1362785 0.7984899 0.9168363 NA -0.1277925 NA FALSE NA 0 -1.308 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 18/53 1 NA GTG T 2.472e-05 2:189068894 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant 0.228912 0.15978 0.10678 0.062308 0.3938105 0.089498 1 TRUE 3.69731e-05 ENSE00001464882_014 ENSE00001464882 014 2 189933482 189933651 - 30 99 41 C T 189933622 3818 30 GTATTTTTCTTAAATTAACATTTCCCTTTACACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068895 189068896 189068896 upstr_intron -12 -0.2682927 GTATTTTTCTTAAATTAACATTTCCCTTTACACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 47 1302 0.7561357 0.8003884 0.778262 0.8346226 0.7623572 0.8984806 0.935192 NA NA -0.1423449 -0.1348037 0.7984899 0.9168363 NA -0.1385743 NA FALSE NA 0 -1.958 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 18/53 rs370331835 1 NA T:0 T:0.0001 GCA C 8.241e-06 2:189068896 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant 0.122533 0.23793 0.11249 0.062308 0.581719 0.0875389 1 TRUE 4.11367e-06 ENSE00001464882_015 ENSE00001464882 015 2 189933482 189933651 - 30 99 41 A G 189933623 3819 29 GTATTTTTCTTAAATTAACATTTCCCTTCGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068896 189068897 189068897 upstr_intron -13 -0.2926829 GTATTTTTCTTAAATTAACATTTCCCTTCGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 727 331 0.01053577 0.08837232 0.04945404 0.8346226 0.7623572 0.8984806 0.935192 NA NA -0.8879449 -0.8468197 0.7984899 0.9168363 NA -0.8673823 NA TRUE NA 0.001 1.212 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 18/53 1 NA CAA A 8.242e-06 2:189068897 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant 0.325787 0.23296 0.2062 0.062308 0.6414896 0.0904871 1 TRUE 2.05731e-05 ENSE00001464882_016 ENSE00001464882 016 2 189933482 189933651 - 30 99 41 G A 189933626 3820 26 GTATTTTTCTTAAATTAACATTTCCTTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068899 189068900 189068900 upstr_intron -16 -0.3658537 GTATTTTTCTTAAATTAACATTTCCTTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 258 558 1 0.8376685 0.9188343 0.8346226 0.7623572 0.8984806 0.935192 NA NA 0.1015194 -0.09752348 0.7984899 0.9168363 NA 0.001997948 NA FALSE NA 0 -0.574 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 18/53 rs201400695 1 NA AGG G 2.473e-05 2:189068900 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant 0.409636 0.16178 0.01603 0.062308 0.5470715 0.0792226 1 TRUE 2.06182e-05 ENSE00001464882_017 ENSE00001464882 017 2 189933482 189933651 - 30 99 41 G A 189933628 3821 24 GTATTTTTCTTAAATTAACATTTTCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068901 189068902 189068902 upstr_intron -18 -0.4146341 GTATTTTTCTTAAATTAACATTTTCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 204 382 0.9997981 0.9888043 0.9943012 0.8346226 0.7623572 0.8984806 0.935192 NA NA 0.1013175 0.05361231 0.7984899 0.9168363 NA 0.07746489 NA FALSE NA 0.001 0.393 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 18/53 1 NA GGA G 1.649e-05 2:189068902 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant 0.301594 0.1971 0.01861 0.062308 0.6188056 0.0448725 1 TRUE 8.25873e-06 ENSE00001464882_019 ENSE00001464882 019 2 189933482 189933651 - 30 99 41 G A 189933633 3823 19 GTATTTTTCTTAAATTAATATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 189068906 189068907 189068907 upstr_intron -23 -0.5365854 GTATTTTTCTTAAATTAATATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC mutant NA NA NA NA NA 226 174 0.8419524 0.8895796 0.865766 0.8346226 0.7623572 0.8984806 0.935192 NA NA -0.05652818 -0.04561244 0.7984899 0.9168363 NA -0.05107031 NA FALSE NA 0 -1.429 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 18/53 1 NA TGT G 8.245e-06 2:189068907 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464882 intron_variant 0.7515 0.27111 0.06799 0.062308 0.8463622 0.0822831 1 TRUE 4.15372e-06 ENSE00001464882_BRK ENSE00001464882 BRK 2 189933482 189933651 - 30 99 41 A,G; T,T NA NA NA GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTTTGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTCCAAGTTTCTAGCATATTTAAGAACCAGCC 189068755 189068925 NA NA NA NA NA NA GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTTTGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTCCAAGTTTCTAGCATATTTAAGAACCAGCC GTATTTTTCTTAAATTAACATTTCCCTTTGCACCCTTTTAGGGAGAAGCAGGTCCTACAGGGGCGCGAGGCCCTGAAGGTCCTCAGGGGCAGAGAGGTGAAACTGGGCCCCCAGGTCCAGTTGGCTCTCCAGGTCTTCCTGTAAGTTTCTAGCATATTTAAGAACCAGCC control 213 70 0 0 0 471 384 0.00776167 0.05579298 0.03177733 0.8346226 0.7623572 0.8984806 0.935192 -0.8346226 -0.7623572 -0.890719 -0.879399 0.7984899 0.9168363 -0.7984899 -0.885059 0.08656911 TRUE TRUE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464882 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464916_000 ENSE00001464916 000 2 189909852 189910021 - 53 54 63 NA NA NA NA NA ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTAGGGTTCTCGGGGTCCTATAGGACCACCTGGTCGAGCTGGGAAACGTGGATTACCTGTAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT 189045125 189045295 NA NA NA NA NA NA ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTAGGGTTCTCGGGGTCCTATAGGACCACCTGGTCGAGCTGGGAAACGTGGATTACCTGTAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTAGGGTTCTCGGGGTCCTATAGGACCACCTGGTCGAGCTGGGAAACGTGGATTACCTGTAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT natural NA NA NA NA NA 805 805 0.9944327 0.9998107 0.9971217 NA NA 0.9944327 0.9998107 NA NA 0 0 NA 0.9971217 NA 0 NA FALSE NA NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464916 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464916_011 ENSE00001464916 011 2 189909852 189910021 - 53 54 63 C T 189909927 3639 95 ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTAGGGTTCTCGGGGTCCTATAGGACCACCTGGTCAAGCTGGGAAACGTGGATTACCTGTAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT 189045125 189045295 189045200 189045201 189045201 exon -23 0.5925926 ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTAGGGTTCTCGGGGTCCTATAGGACCACCTGGTCAAGCTGGGAAACGTGGATTACCTGTAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTAGGGTTCTCGGGGTCCTATAGGACCACCTGGTCGAGCTGGGAAACGTGGATTACCTGTAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT mutant NA NA NA NA NA 450 80 0.9938126 1 0.9969063 NA NA 0.9944327 0.9998107 NA NA -0.0006201169 0.0001893261 NA 0.9971217 NA -0.0002153954 NA FALSE NA 0.998 3.306 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 47/54 rs377049803 1 unknown(0) NA T:0.0002 T:0.0001 TCG C 1.648e-05 2:189045201 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464916 missense_variant 5.219348 0.98621 0.95136 0.732398 0.9990916 0 1 TRUE 1.64958e-05 ENSE00001464916_BRK ENSE00001464916 BRK 2 189909852 189910021 - 53 54 63 A,G; T,T NA NA NA ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTTTGGTTCTCGGGGTCCTATAGGACCACCTGGTCGAGCTGGGAAACGTGGATTACCTCCAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT 189045125 189045295 NA NA NA NA NA NA ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTTTGGTTCTCGGGGTCCTATAGGACCACCTGGTCGAGCTGGGAAACGTGGATTACCTCCAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT ATCTATGTAATATGTGAATATCTTTTTTACATGCCAATTTTTTTTGTTGTAAATTTCTTTTAGGGTTCTCGGGGTCCTATAGGACCACCTGGTCGAGCTGGGAAACGTGGATTACCTGTAAGTTCTCTTTTTTTGTTTTTTAAAAAATGTTTTCTTATATAAAATATACT control NA NA NA NA NA 740 30 0 0 0 NA NA 0.9944327 0.9998107 NA NA -0.9944327 -0.9998107 NA 0.9971217 NA -0.9971217 NA TRUE NA NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464916 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464919_000 ENSE00001464919 000 2 189912882 189913051 - 53 54 63 NA NA NA NA NA ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 NA NA NA NA NA NA ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT natural 41 129 0.9726594 0.9727449 0.9727021 8061 6995 0.9278372 0.7490114 0.8384243 0.9726594 0.9727449 0.9278372 0.7490114 0 0 0 0 0.9727021 0.8384243 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464919 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464919_001 ENSE00001464919 001 2 189912882 189913051 - 53 54 63 G A 189912895 3651 157 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGTAAATCTGAAATCT 189048155 189048325 189048168 189048169 189048169 downstr_intron 40 1.769231 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGTAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 1330 464 0.9962396 0.9936741 0.9949568 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.06840246 0.2446626 0.9727021 0.8384243 NA 0.1565326 NA FALSE NA 0 0.133 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 45/53 rs550307943 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G 3.295e-05 2:189048169 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant 0.062295 0.14792 0.00109 0.106106 0.682393 0.0439205 1 TRUE 2.4424e-05 ENSE00001464919_003 ENSE00001464919 003 2 189912882 189913051 - 53 54 63 A T 189912897 3653 155 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCAAGCAAATCTGAAATCT 189048155 189048325 189048170 189048171 189048171 downstr_intron 38 1.730769 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCAAGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 1083 881 0.8412683 0.9774008 0.9093346 0.9726594 0.9727449 0.9278372 0.7490114 NA NA -0.08656882 0.2283894 0.9727021 0.8384243 NA 0.07091028 NA FALSE NA 0 0.02 NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:189048171 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant -0.347632 0.21531 0.15737 0.106106 0.3982849 0.0439534 1 TRUE 0.000134227 ENSE00001464919_004 ENSE00001464919 004 2 189912882 189913051 - 53 54 63 T A 189912898 3654 154 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCTTGCAAATCTGAAATCT 189048155 189048325 189048171 189048172 189048172 downstr_intron 37 1.711538 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCTTGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 724 361 0.9975879 0.9945335 0.9960607 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.06975074 0.2455221 0.9727021 0.8384243 NA 0.1576364 NA FALSE NA 0 -0.634 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 45/53 1 NA ATG T 8.236e-06 2:189048172 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant 0.509328 0.19294 0.07395 0.106106 0.8261316 0.0439534 1 TRUE 4.06709e-06 ENSE00001464919_005 ENSE00001464919 005 2 189912882 189913051 - 53 54 63 T C 189912904 3655 148 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTGAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048177 189048178 189048178 downstr_intron 31 1.596154 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTGAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 481 246 0.9636622 0.9937239 0.9786931 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.03582506 0.2447125 0.9727021 0.8384243 NA 0.1402688 NA FALSE NA 0 -0.441 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 45/53 1 NA TTA T 8.236e-06 2:189048178 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant 1.167765 0.16856 0.00762 0.106106 0.7078376 0.0439534 1 TRUE 4.06497e-06 ENSE00001464919_006 ENSE00001464919 006 2 189912882 189913051 - 53 54 63 A G 189912907 3656 145 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAACCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048180 189048181 189048181 downstr_intron 28 1.538462 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAACCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 511 920 0.9861979 0.9911823 0.9886901 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.05836075 0.2421709 0.9727021 0.8384243 NA 0.1502658 NA FALSE NA 0 1.073 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 45/53 1 NA GAT A 2.471e-05 2:189048181 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant 1.168787 0.24224 0.01404 0.106106 0.7383234 0.0930981 1 TRUE 1.21923e-05 ENSE00001464919_007 ENSE00001464919 007 2 189912882 189913051 - 53 54 63 T C 189912911 3657 141 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATGAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048184 189048185 189048185 downstr_intron 24 1.461538 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATGAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 20 115 1 0.9973078 0.9986539 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.07216284 0.2482964 0.9727021 0.8384243 NA 0.1602296 NA FALSE NA 0.041 2.306 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 45/53 1 NA TTA T 8.236e-06 2:189048185 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant 0.420074 0.30998 0.45342 0.106106 0.6280442 0.0930981 1 TRUE 4.06365e-06 ENSE00001464919_008 ENSE00001464919 008 2 189912882 189913051 - 53 54 63 A T 189912918 3658 134 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACATATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048191 189048192 189048192 downstr_intron 17 1.326923 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACATATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 1339 83 0.926162 0.8945404 0.9103512 0.9726594 0.9727449 0.9278372 0.7490114 NA NA -0.001675196 0.145529 0.9727021 0.8384243 NA 0.07192691 NA FALSE NA 0 -0.026 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 45/53 1 NA AAG A 7.413e-05 2:189048192 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant -0.162284 0.35551 0.07224 0.106106 0.5214703 0.0930981 1 TRUE 4.46915e-05 ENSE00001464919_010 ENSE00001464919 010 2 189912882 189913051 - 53 54 63 T G 189912920 3660 132 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCCCTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048193 189048194 189048194 downstr_intron 15 1.288462 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCCCTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 962 1292 0.939429 0.9508222 0.9451256 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.01159186 0.2018108 0.9727021 0.8384243 NA 0.1067013 NA FALSE NA 0 0.31 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 45/53 1 NA GTG T 8.236e-06 2:189048194 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant -0.025252 0.21435 0.22975 0.106106 0.5184443 0.0930981 1 TRUE 4.06286e-06 ENSE00001464919_011 ENSE00001464919 011 2 189912882 189913051 - 53 54 63 G A 189912921 3661 131 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTTACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048194 189048195 189048195 downstr_intron 14 1.269231 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTTACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 681 2345 1 0.9412528 0.9706264 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.07216284 0.1922413 0.9727021 0.8384243 NA 0.1322021 NA FALSE NA 0 -0.288 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 45/53 rs368713290 1 NA A:0 A:0.0001 TGA G 3.295e-05 2:189048195 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant 0.10226 0.13309 0.02336 0.106106 0.4791964 0.0930981 1 TRUE 9.75047e-05 ENSE00001464919_013 ENSE00001464919 013 2 189912882 189913051 - 53 54 63 G T 189912927 3663 125 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGACATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048200 189048201 189048201 downstr_intron 8 1.153846 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGACATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 66 371 0.9527346 0.9781922 0.9654634 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.02489742 0.2291807 0.9727021 0.8384243 NA 0.1270391 NA FALSE NA 0.008 0.567 . splice_region_variant&intron_variant LOW COL5A2 HGNC 2210 ENST00000374866 45/53 1 NA GGC G 8.236e-06 2:189048201 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 splice_region_variant 0.262255 0.30124 0.07818 0.106106 0.5636513 0.164766 1 TRUE 4.0622e-06 ENSE00001464919_014 ENSE00001464919 014 2 189912882 189913051 - 53 54 63 C A 189912928 3664 124 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGATCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048201 189048202 189048202 downstr_intron 7 1.134615 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGATCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 61 778 0.9841462 0.9572661 0.9707061 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.05630901 0.2082547 0.9727021 0.8384243 NA 0.1322819 NA FALSE NA 0 -2.292 . splice_region_variant&intron_variant LOW COL5A2 HGNC 2210 ENST00000374866 45/53 1 NA GCT C 8.236e-06 2:189048202 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 splice_region_variant 0.849179 0.27169 0.02968 0.106106 0.5387306 0.164766 1 TRUE 4.062e-06 ENSE00001464919_015 ENSE00001464919 015 2 189912882 189913051 - 53 54 63 C T 189912936 3665 116 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACATGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048209 189048210 189048210 exon -2 0.9814815 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACATGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 410 232 0.998311 1 0.9991555 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.0704738 0.2509886 0.9727021 0.8384243 NA 0.1607312 NA FALSE NA 0.931 3.453 . missense_variant&splice_region_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 45/54 1 unknown(0) NA ACG C 1.647e-05 2:189048210 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 missense_variant 5.341203 0.98449 0.95753 0.732398 0.9963535 0 1 TRUE 8.12328e-06 ENSE00001464919_016 ENSE00001464919 016 2 189912882 189913051 - 53 54 63 G T 189912937 3666 115 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAAAGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048210 189048211 189048211 exon -3 0.962963 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAAAGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 416 510 0.9553017 0.9552736 0.9552877 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.02746459 0.2062622 0.9727021 0.8384243 NA 0.1168634 NA FALSE NA 1 4.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:189048211 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 missense_variant 4.807863 0.9807 0.8195 0.732398 0.9911966 0 1 TRUE 4.06167e-06 ENSE00001464919_017 ENSE00001464919 017 2 189912882 189913051 - 53 54 63 G A 189912937 3667 115 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAATGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048210 189048211 189048211 exon -3 0.962963 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAATGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 216 585 0.9576613 0.9435975 0.9506294 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.02982416 0.194586 0.9727021 0.8384243 NA 0.1122051 NA FALSE NA 1 4.323 NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464919 missense_variant 5.4128 0.98405 0.97789 0.732398 0.9959152 0 1 TRUE 4.46784e-05 ENSE00001464919_018 ENSE00001464919 018 2 189912882 189913051 - 53 54 63 C T 189912940 3668 112 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAAAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048213 189048214 189048214 exon -6 0.9074074 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAAAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 1797 131 0.9477659 0.878281 0.9130234 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.01992869 0.1292696 0.9727021 0.8384243 NA 0.07459914 NA FALSE NA 1 3.276 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 45/54 COSM1201935 1 unknown(0) NA TCT C 8.236e-06 2:189048214 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 missense_variant 3.103343 0.98743 0.94754 0.732398 0.6535657 0 1 TRUE 8.12295e-06 ENSE00001464919_019 ENSE00001464919 019 2 189912882 189913051 - 53 54 63 T C 189912941 3669 111 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGGGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048214 189048215 189048215 exon -7 0.8888889 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGGGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 3048 1391 0.007050623 0.002415905 0.004733264 0.9726594 0.9727449 0.9278372 0.7490114 NA NA -0.9207865 -0.7465955 0.9727021 0.8384243 NA -0.833691 NA TRUE NA 1 1.734 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 45/54 1 NA CTC T 2.471e-05 2:189048215 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 synonymous_variant -0.454053 0.98228 0.96258 0.732398 0.6518793 0 1 TRUE 2.4371e-05 ENSE00001464919_020 ENSE00001464919 020 2 189912882 189913051 - 53 54 63 C T 189912957 3670 95 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACAGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048230 189048231 189048231 exon -23 0.5925926 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACAGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 494 373 0.950491 0.9324503 0.9414707 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.02265388 0.1834389 0.9727021 0.8384243 NA 0.1030464 NA FALSE NA 0.998 4.1 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 45/54 1 unknown(0) NA CCG C 8.236e-06 2:189048231 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 missense_variant 5.619517 0.96799 0.88875 0.732398 0.9989248 0 1 TRUE 8.12407e-06 ENSE00001464919_021 ENSE00001464919 021 2 189912882 189913051 - 53 54 63 G A 189912958 3671 94 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGATGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048231 189048232 189048232 exon -24 0.5740741 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGATGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 533 531 0.8005267 0.6744535 0.7374901 0.9726594 0.9727449 0.9278372 0.7490114 NA NA -0.1273104 -0.07455787 0.9727021 0.8384243 NA -0.1009341 NA FALSE NA 1 2.795 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 45/54 rs374549843 1 unknown(0) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 CGT G 4.942e-05 2:189048232 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 missense_variant 4.746715 0.94878 0.9121 0.732398 0.9883308 0 1 TRUE 5.68708e-05 ENSE00001464919_022 ENSE00001464919 022 2 189912882 189913051 - 53 54 63 G T 189912966 3672 86 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTAACCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048239 189048240 189048240 exon 23 0.4259259 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTAACCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 1221 181 0.9669021 0.9995784 0.9832403 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.03906499 0.250567 0.9727021 0.8384243 NA 0.144816 NA FALSE NA 1 6.72 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 45/54 rs201186702 1 unknown(0) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0001 GGT G 5.765e-05 2:189048240 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 missense_variant 3.022425 0.97243 0.96608 0.732398 0.9825183 0 1 TRUE 5.28073e-05 ENSE00001464919_023 ENSE00001464919 023 2 189912882 189913051 - 53 54 63 T C 189912967 3673 85 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTGCCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048240 189048241 189048241 exon 22 0.4074074 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTGCCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 1191 996 0.9933236 0.8525089 0.9229162 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.06548644 0.1034975 0.9727021 0.8384243 NA 0.08449196 NA FALSE NA 0.622 2.492 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 45/54 1 unknown(0) NA GTA T 1.647e-05 2:189048241 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 missense_variant 1.465099 0.93839 0.83459 0.732398 0.9243248 0 1 TRUE 8.12612e-06 ENSE00001464919_024 ENSE00001464919 024 2 189912882 189913051 - 53 54 63 C T 189912969 3674 83 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGATACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048242 189048243 189048243 exon 20 0.3703704 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGATACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 921 445 0.9999553 1 0.9999777 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.07211815 0.2509886 0.9727021 0.8384243 NA 0.1615534 NA FALSE NA 1 7.093 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 45/54 1 unknown(0) NA ACC C 8.236e-06 2:189048243 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 missense_variant 5.380552 0.98139 0.97866 0.732398 0.9909993 0 1 TRUE 4.06197e-06 ENSE00001464919_026 ENSE00001464919 026 2 189912882 189913051 - 53 54 63 A G 189912974 3676 78 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAACGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048247 189048248 189048248 exon 15 0.2777778 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAACGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 1159 1683 0.9952676 0.9965156 0.9958916 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.06743041 0.2475042 0.9727021 0.8384243 NA 0.1574673 NA FALSE NA 0.988 0.657 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 45/54 1 NA CAT A 1.647e-05 2:189048248 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 synonymous_variant 0.640181 0.92659 0.81493 0.732398 0.6717955 0 1 TRUE 1.21864e-05 ENSE00001464919_028 ENSE00001464919 028 2 189912882 189913051 - 53 54 63 T C 189912992 3678 60 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTGTAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048265 189048266 189048266 upstr_intron -4 -0.04761905 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTGTAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 4554 1267 0.974423 0.8429032 0.9086631 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.04658584 0.09389182 0.9727021 0.8384243 NA 0.07023883 NA FALSE NA 0.264 0.196 . splice_region_variant&intron_variant LOW COL5A2 HGNC 2210 ENST00000374866 44/53 1 NA ATA T 8.236e-06 2:189048266 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 splice_region_variant -0.282593 0.26405 0.38821 0.163922 0.432945 0.104293 1 TRUE 4.06415e-06 ENSE00001464919_029 ENSE00001464919 029 2 189912882 189913051 - 53 54 63 A T 189912997 3679 55 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATACTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048270 189048271 189048271 upstr_intron -9 -0.1269841 ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATACTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 1299 2607 0.7438571 0.800097 0.7719771 0.9726594 0.9727449 0.9278372 0.7490114 NA NA -0.18398 0.05108559 0.9727021 0.8384243 NA -0.06644722 NA FALSE NA 0.884 4.391 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 44/53 rs371002380 1 NA T:0.0002 T:0 GAA A 8.236e-06 2:189048271 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant -0.029565 0.47303 0.89382 0.088506 0.6326087 0.0930635 1 TRUE 4.06567e-06 ENSE00001464919_031 ENSE00001464919 031 2 189912882 189913051 - 53 54 63 T C 189913019 3681 33 ATTGGAATGAGGATTTTTTTCATTACTCAGTTGAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048292 189048293 189048293 upstr_intron -31 -0.4761905 ATTGGAATGAGGATTTTTTTCATTACTCAGTTGAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 870 1896 0.9513163 0.9517863 0.9515513 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.02347911 0.2027749 0.9727021 0.8384243 NA 0.113127 NA FALSE NA 0.006 0.366 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 44/53 1 NA TTA T 1.647e-05 2:189048293 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant 0.100584 0.2759 0.16128 0.088506 0.4140901 0.117989 1 TRUE NA ENSE00001464919_032 ENSE00001464919 032 2 189912882 189913051 - 53 54 63 C T 189913022 3682 30 ATTGGAATGAGGATTTTTTTCATTACTCAATTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 189048295 189048296 189048296 upstr_intron -34 -0.5238095 ATTGGAATGAGGATTTTTTTCATTACTCAATTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT mutant NA NA NA NA NA 997 2385 0.9990051 0.9975849 0.998295 0.9726594 0.9727449 0.9278372 0.7490114 NA NA 0.07116796 0.2485735 0.9727021 0.8384243 NA 0.1598707 NA FALSE NA 0 -1.19 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 44/53 1 NA ACT C 2.471e-05 2:189048296 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464919 intron_variant -0.030632 0.25921 0.02819 0.088506 0.37309 0.117989 1 TRUE 1.22503e-05 ENSE00001464919_BRK ENSE00001464919 BRK 2 189912882 189913051 - 53 54 63 A,G; T,T NA NA NA ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATTTGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTCCAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT 189048155 189048325 NA NA NA NA NA NA ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATTTGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTCCAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT ATTGGAATGAGGATTTTTTTCATTACTCAGTTAAGTAGTTTTTCAAACCATTATTCTTTATAGGGTCCAGCTGGCAATGATGGTACCCCAGGACGGGATGGTGCTGTTGGAGAACGTGTAAGAGCCATTTCACTTATTATAAAATCTAAAGTCATGCAAATCTGAAATCT control 140 147 0 0 0 1623 1826 0 0.1039125 0.05195627 0.9726594 0.9727449 0.9278372 0.7490114 -0.9726594 -0.9727449 -0.9278372 -0.6450989 0.9727021 0.8384243 -0.9727021 -0.786468 0.1862341 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464919 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464928_000 ENSE00001464928 000 2 189916845 189917014 - 53 54 63 NA NA NA NA NA GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 NA NA NA NA NA NA GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC natural 405 231 0.6517456 0.7334563 0.6926009 8841 7937 0.9687727 0.9631747 0.9659737 0.6517456 0.7334563 0.9687727 0.9631747 0 0 0 0 0.6926009 0.9659737 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464928 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464928_001 ENSE00001464928 001 2 189916845 189917014 - 53 54 63 G A 189916878 3684 137 GTGTGTGTGTAATTATTTCATTATCAGTGACTTATCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052151 189052152 189052152 downstr_intron 20 1.384615 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGATAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 960 1224 0.9912655 0.9998085 0.995537 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.02249281 0.03663385 0.6926009 0.9659737 NA 0.02956333 NA FALSE NA 0 -0.394 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 41/53 1 NA TGT G,A 8.236e-06 2:189052152 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 intron_variant -0.073601 0.25583 0.05339 0.106106 0.5357947 0.0673465 1 TRUE 4.06339e-06 ENSE00001464928_002 ENSE00001464928 002 2 189916845 189917014 - 53 54 63 T A 189916879 3685 136 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGTCAAGTCACTGATAATGAAATAATTACACACACAC 189052118 189052288 189052152 189052153 189052153 downstr_intron 19 1.365385 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGTCAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 2297 200 0.9823837 0.9804042 0.981394 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.01361102 0.01722956 0.6926009 0.9659737 NA 0.01542029 NA FALSE NA 0 0.28 rs111609220 intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 41/53 rs111609220 1 A:0.0082 A:0.028 A:0.0058 NA A:0 A:0 A:0 A:0.0154 A:0 GTC A,A 0.001606 2:189052153 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 intron_variant 0.309409 0.16604 0.00632 0.106106 0.4768851 0.0673465 1 TRUE 0.00117438 ENSE00001464928_003 ENSE00001464928 003 2 189916845 189917014 - 53 54 63 C G 189916884 3686 131 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCAGTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052157 189052158 189052158 downstr_intron 14 1.269231 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTACTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 1582 1164 0.9963579 0.9923163 0.9943371 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.02758518 0.02914163 0.6926009 0.9659737 NA 0.02836341 NA FALSE NA 0 -0.729 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 41/53 1 NA ACT C,G 8.236e-06 2:189052158 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 intron_variant -0.070842 0.25148 0.06702 0.106106 0.4483629 0.1162 1 TRUE 8.1242e-06 ENSE00001464928_004 ENSE00001464928 004 2 189916845 189917014 - 53 54 63 A G 189916886 3687 129 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTGAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052159 189052160 189052160 downstr_intron 12 1.230769 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTCAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 577 710 0.9962378 0.9938347 0.9950362 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.02746508 0.03066005 0.6926009 0.9659737 NA 0.02906256 NA FALSE NA 0.002 0.286 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 41/53 1 NA TAA A,G 8.236e-06 2:189052160 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 intron_variant 0.208251 0.22113 0.03553 0.106106 0.5570857 0.1162 1 TRUE NA ENSE00001464928_007 ENSE00001464928 007 2 189916845 189917014 - 53 54 63 T A 189916919 3690 96 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGTGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC 189052118 189052288 189052192 189052193 189052193 exon -22 0.6111111 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGTGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 1978 941 0.9625959 0.9676335 0.9651147 0.6517456 0.7334563 0.9687727 0.9631747 NA NA -0.006176852 0.004458883 0.6926009 0.9659737 NA -0.0008589843 NA FALSE NA 1 3.407 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 41/54 1 unknown(0) NA CTC T,A 8.236e-06 2:189052193 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 missense_variant 3.999212 0.95283 0.93838 0.732398 0.9942425 0 1 TRUE 4.06081e-06 ENSE00001464928_008 ENSE00001464928 008 2 189916845 189917014 - 53 54 63 G T 189916922 3691 93 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTTCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052195 189052196 189052196 exon -25 0.5555556 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGAAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 485 853 0.9923759 0.9999554 0.9961656 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.02360318 0.03678072 0.6926009 0.9659737 NA 0.03019195 NA FALSE NA 0.005 -0.227 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 41/54 1 NA TGC G,T 8.236e-06 2:189052196 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 synonymous_variant 1.082687 0.73424 0.13657 0.732398 0.637151 0 1 TRUE 1.21828e-05 ENSE00001464928_009 ENSE00001464928 009 2 189916845 189917014 - 53 54 63 C T 189916923 3692 92 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGTCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052196 189052197 189052197 exon -26 0.537037 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGACAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 1778 1883 0.99934 0.9601814 0.9797607 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.03056731 -0.002993236 0.6926009 0.9659737 NA 0.01378704 NA FALSE NA 1 7.741 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 41/54 1 unknown(0) NA GCC C,T 8.236e-06 2:189052197 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 missense_variant 5.628534 0.9786 0.97513 0.732398 0.9967099 0 1 TRUE 4.06091e-06 ENSE00001464928_011 ENSE00001464928 011 2 189916845 189917014 - 53 54 63 G A 189916926 3694 89 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCACAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052199 189052200 189052200 exon 26 0.4814815 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGTGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 400 865 0.8176556 0.8043338 0.8109947 0.6517456 0.7334563 0.9687727 0.9631747 NA NA -0.1511171 -0.1588409 0.6926009 0.9659737 NA -0.154979 NA FALSE NA 1 9.767 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 41/54 rs201486858&COSM1243173 1 unknown(0) NA CGC G,A 0.0001071 2:189052200 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 missense_variant 5.991234 0.97897 0.9818 0.732398 0.9982868 0 1 TRUE 8.52806e-05 ENSE00001464928_012 ENSE00001464928 012 2 189916845 189917014 - 53 54 63 T A 189916943 3695 72 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACTGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC 189052118 189052288 189052216 189052217 189052217 exon 9 0.1666667 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACTGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 1142 388 0.9925166 0.9990852 0.9958009 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.02374386 0.0359105 0.6926009 0.9659737 NA 0.02982718 NA FALSE NA 0.998 0.527 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 41/54 1 NA CTG T,A 8.236e-06 2:189052217 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 synonymous_variant 1.596376 0.9109 0.35703 0.732398 0.7310369 0 1 TRUE 4.06131e-06 ENSE00001464928_014 ENSE00001464928 014 2 189916845 189917014 - 53 54 63 C T 189916950 3697 65 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCATCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052223 189052224 189052224 exon 2 0.03703704 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGATGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 844 610 0.9949687 0.9964376 0.9957032 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.02619603 0.03326293 0.6926009 0.9659737 NA 0.02972948 NA FALSE NA 1 7.741 . missense_variant&splice_region_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 41/54 1 unknown(0) NA ACC C,T 8.236e-06 2:189052224 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 missense_variant 5.664529 0.9786 0.97513 0.732398 0.9957691 0 1 TRUE 4.06161e-06 ENSE00001464928_015 ENSE00001464928 015 2 189916845 189917014 - 53 54 63 G A 189916955 3698 60 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAAAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052228 189052229 189052229 upstr_intron -4 -0.04761905 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTTTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 3626 475 0.9420315 0.9565425 0.949287 0.6517456 0.7334563 0.9687727 0.9631747 NA NA -0.02674117 -0.006632188 0.6926009 0.9659737 NA -0.01668668 NA FALSE NA 0.387 0.073 rs111644889 splice_region_variant&intron_variant LOW COL5A2 HGNC 2210 ENST00000374866 40/53 rs111644889 1 A:0.0082 A:0.028 A:0.0058 NA A:0 A:0 A:0 A:0.0154 A:0 AGA G,A 0.001606 2:189052229 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 splice_region_variant 0.86808 0.8608 0.25031 0.106106 0.550508 0.242921 1 TRUE 0.00117387 ENSE00001464928_016 ENSE00001464928 016 2 189916845 189917014 - 53 54 63 A G 189916960 3699 55 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCGGAATATCATATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052233 189052234 189052234 upstr_intron -9 -0.1269841 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCCGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 4784 3035 0.7711692 0.7590487 0.7651089 0.6517456 0.7334563 0.9687727 0.9631747 NA NA -0.1976035 -0.204126 0.6926009 0.9659737 NA -0.2008647 NA FALSE NA 0 0.505 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 40/53 1 NA CAG A,G 8.236e-06 2:189052234 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 intron_variant 0.320005 0.33757 0.05904 0.106106 0.750987 0.13161 1 TRUE 4.06623e-06 ENSE00001464928_017 ENSE00001464928 017 2 189916845 189917014 - 53 54 63 A G 189916968 3700 47 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCGTATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052241 189052242 189052242 upstr_intron -17 -0.2539683 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATACGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 175 2819 0.9997646 0.9889103 0.9943374 0.6517456 0.7334563 0.9687727 0.9631747 NA NA 0.03099189 0.02573563 0.6926009 0.9659737 NA 0.02836376 NA FALSE NA 0.001 1.657 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:189052242 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 intron_variant -0.252411 0.33763 0.24577 0.106106 0.5941125 0.117098 1 TRUE 4.06266e-06 ENSE00001464928_018 ENSE00001464928 018 2 189916845 189917014 - 53 54 63 A C 189916968 3701 47 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCCTATAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052241 189052242 189052242 upstr_intron -17 -0.2539683 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATAGGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 596 784 0.0380012 0.0387267 0.03836395 0.6517456 0.7334563 0.9687727 0.9631747 NA NA -0.9307715 -0.9244479 0.6926009 0.9659737 NA -0.9276097 NA TRUE NA 0.001 1.657 NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464928 intron_variant -0.457264 0.3331 0.30335 0.106106 0.5574565 0.117098 1 TRUE 2.03133e-05 ENSE00001464928_019 ENSE00001464928 019 2 189916845 189917014 - 53 54 63 T C 189916971 3702 44 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATACAAGCAATTTTTAAGGTAATATAAATTAGTTACATGTATTTTCC 189052118 189052288 189052244 189052245 189052245 upstr_intron -20 -0.3015873 GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTGTATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 2330 702 0.8688589 0.8032409 0.8360499 0.6517456 0.7334563 0.9687727 0.9631747 NA NA -0.09991377 -0.1599338 0.6926009 0.9659737 NA -0.1299238 NA FALSE NA 0 -0.21 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 40/53 1 NA ATA T,C 2.471e-05 2:189052245 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 intron_variant -0.306034 0.23601 0.10071 0.106106 0.5602001 0.0673465 1 TRUE 2.84414e-05 ENSE00001464928_022 ENSE00001464928 022 2 189916845 189917014 - 53 54 63 T C 189916996 3705 19 GTGTGTGTGTAATTATTTCATTATCAGTGACTTGTCTCACTAAGTTGACTTACAGCAGGGCCTGGAGGTCCAACTCTGCCCGCAGAACCAGGAAATCCTGTAGCACCCTAGAACCAGAATATCATATAAGCAATTTTTAAGGTAATATAAACTAGTTACATGTATTTTCC 189052118 189052288 189052269 189052270 189052270 upstr_intron -45 -0.6984127 GGAAAATACATGTAACTAGTTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC mutant NA NA NA NA NA 526 630 0.9646293 0.9606865 0.9626579 0.6517456 0.7334563 0.9687727 0.9631747 NA NA -0.004143409 -0.002488171 0.6926009 0.9659737 NA -0.00331579 NA FALSE NA 0 0.185 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 40/53 rs370106653 1 NA C:0 C:0.0001 ATT T,C 8.237e-06 2:189052270 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464928 intron_variant 0.11047 0.26875 0.1156 0.106106 0.4905544 0.108007 1 TRUE 4.07136e-06 ENSE00001464928_BRK ENSE00001464928 BRK 2 189916845 189917014 - 53 54 63 A,G; T,T NA NA NA GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTTTGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTCCAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC 189052118 189052288 NA NA NA NA NA NA GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTTTGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTCCAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC GGAAAATACATGTAACTAATTTATATTACCTTAAAAATTGCTTATATGATATTCTGGTTCTAGGGTGCTACAGGATTTCCTGGTTCTGCGGGCAGAGTTGGACCTCCAGGCCCTGCTGTAAGTCAACTTAGTGAGACAAGTCACTGATAATGAAATAATTACACACACAC control 573 202 0 0 0 2005 1887 0.002706597 0.003238589 0.002972593 0.6517456 0.7334563 0.9687727 0.9631747 -0.6517456 -0.7334563 -0.9660661 -0.9599361 0.6926009 0.9659737 -0.6926009 -0.9630011 0.2704001 TRUE TRUE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464928 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464936_000 ENSE00001464936 000 2 189918097 189918266 - 53 54 63 NA NA NA NA NA TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 NA NA NA NA NA NA TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT natural 30 87 0.9994233 0.9859527 0.992688 3284 4860 0.9904084 0.9933503 0.9918793 0.9994233 0.9859527 0.9904084 0.9933503 0 0 0 0 0.992688 0.9918793 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464936 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464936_002 ENSE00001464936 002 2 189918097 189918266 - 53 54 63 T A 189918113 3708 154 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACTCTTATCTTGTTATAAT 189053370 189053540 189053386 189053387 189053387 downstr_intron 37 1.711538 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACTCTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1500 841 0.9977799 0.94873 0.9732549 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.007371513 -0.04462031 0.992688 0.9918793 NA -0.0186244 NA FALSE NA 0 -0.004 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 38/53 rs563849855 1 A:0.0004 A:0.0008 A:0 NA A:0 A:0 A:0.001 GTG T,A 0.0004036 2:189053387 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant 0.202905 0.23192 0.01737 0.088506 0.489129 0.0937674 1 TRUE 0.000342944 ENSE00001464936_003 ENSE00001464936 003 2 189918097 189918266 - 53 54 63 T C 189918119 3709 148 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAGTAAACACTTATCTTGTTATAAT 189053370 189053540 189053392 189053393 189053393 downstr_intron 31 1.596154 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAGTAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1237 2689 0.9931747 0.9528305 0.9730026 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.002766362 -0.04051971 0.992688 0.9918793 NA -0.01887667 NA FALSE NA 0 -0.183 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 38/53 1 NA ATT T,C 1.647e-05 2:189053393 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant -0.354101 0.24347 0.08565 0.088506 0.438194 0.14132 1 TRUE 1.6293e-05 ENSE00001464936_004 ENSE00001464936 004 2 189918097 189918266 - 53 54 63 C G 189918150 3710 117 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCACGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053423 189053424 189053424 exon -1 1 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCACGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 872 1115 0.02995761 0.007386888 0.01867225 0.9994233 0.9859527 0.9904084 0.9933503 NA NA -0.9604507 -0.9859634 0.992688 0.9918793 NA -0.9732071 NA TRUE NA 1 1.083 . missense_variant&splice_region_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 38/54 1 unknown(0) NA CCT C,G 8.237e-06 2:189053424 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 missense_variant 4.802306 0.98374 0.92069 0.732398 0.9944307 0 1 TRUE 4.062e-06 ENSE00001464936_005 ENSE00001464936 005 2 189918097 189918266 - 53 54 63 G T 189918153 3711 114 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCACAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053426 189053427 189053427 exon -4 0.9444444 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCACAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 621 563 0.9999337 0.9836417 0.9917877 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.009525352 -0.009708595 0.992688 0.9918793 NA -9.162178e-05 NA FALSE NA 0.038 -0.36 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 38/54 rs375877757 1 NA T:0 T:0.0001 GGG G,T 2.471e-05 2:189053427 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 synonymous_variant 1.027299 0.85579 0.50771 0.732398 0.6660919 0 1 TRUE 1.62468e-05 ENSE00001464936_006 ENSE00001464936 006 2 189918097 189918266 - 53 54 63 G A 189918159 3712 108 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCTGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053432 189053433 189053433 exon -10 0.8333333 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCTGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 2001 574 0.9959382 0.9933425 0.9946404 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.005529878 -7.777621e-06 0.992688 0.9918793 NA 0.00276105 NA FALSE NA 1 1.19 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 38/54 rs370774253 1 NA A:0.0002 A:0.0002 CGG G,A 9.06e-05 2:189053433 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 synonymous_variant 2.032409 0.9515 0.25859 0.732398 0.6559434 0 1 TRUE 5.68671e-05 ENSE00001464936_007 ENSE00001464936 007 2 189918097 189918266 - 53 54 63 A G 189918169 3713 98 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGCTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053442 189053443 189053443 exon -20 0.6481481 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGCTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 4783 2562 0.9976168 0.8689821 0.9332994 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.007208432 -0.1243682 0.992688 0.9918793 NA -0.05857989 NA FALSE NA 1 3.352 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 38/54 1 unknown(0) NA AAC A,G 2.471e-05 2:189053443 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 missense_variant 2.214365 0.98281 0.94824 0.732398 0.780593 0 1 TRUE 1.62454e-05 ENSE00001464936_009 ENSE00001464936 009 2 189918097 189918266 - 53 54 63 C T 189918194 3715 73 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAAGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053467 189053468 189053468 exon 10 0.1851852 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAAGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1493 649 1 0.9997562 0.9998781 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.00959164 0.006405976 0.992688 0.9918793 NA 0.007998808 NA FALSE NA 1 7.449 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 38/54 1 unknown(0) NA CCT C,T 8.237e-06 2:189053468 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 missense_variant 6.005485 0.99515 0.99723 0.732398 0.9945735 0 1 TRUE 4.0619e-06 ENSE00001464936_010 ENSE00001464936 010 2 189918097 189918266 - 53 54 63 C G 189918196 3716 71 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCCAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053469 189053470 189053470 exon 8 0.1481481 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCCAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1061 1760 0.9908896 1 0.9954448 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.0004812529 0.00664974 0.992688 0.9918793 NA 0.003565496 NA FALSE NA 1 3.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:189053470 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 missense_variant 6.063831 0.99206 0.98654 0.732398 0.9938898 0 1 TRUE 1.62472e-05 ENSE00001464936_011 ENSE00001464936 011 2 189918097 189918266 - 53 54 63 C T 189918196 3717 71 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCAAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053469 189053470 189053470 exon 8 0.1481481 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCAAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1209 3023 0.9986072 0.9935065 0.9960568 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.008198834 0.0001562222 0.992688 0.9918793 NA 0.004177528 NA FALSE NA 1 3.687 NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464936 missense_variant 6.466123 0.99066 0.96642 0.732398 0.999116 0 1 TRUE 2.0309e-05 ENSE00001464936_012 ENSE00001464936 012 2 189918097 189918266 - 53 54 63 G C 189918197 3718 70 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTGGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053470 189053471 189053471 exon 7 0.1296296 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTGGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 977 759 1 1 1 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.00959164 0.00664974 0.992688 0.9918793 NA 0.00812069 NA FALSE NA 1 3.847 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 38/54 rs367718811 1 unknown(0) NA C:0 C:0.0001 CGA G,C 8.237e-06 2:189053471 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 missense_variant 5.403992 0.98694 0.97145 0.732398 0.9910429 0 1 TRUE 8.124e-06 ENSE00001464936_013 ENSE00001464936 013 2 189918097 189918266 - 53 54 63 G C 189918199 3719 68 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTGTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053472 189053473 189053473 exon 5 0.09259259 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTGTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 835 309 0.9943273 1 0.9971637 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.003918945 0.00664974 0.992688 0.9918793 NA 0.005284343 NA FALSE NA 0.993 3.558 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 38/54 1 unknown(0) NA AGA G,C 8.237e-06 2:189053473 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 missense_variant 4.529328 0.98769 0.95452 0.732398 0.9808879 0 1 TRUE 4.06184e-06 ENSE00001464936_014 ENSE00001464936 014 2 189918097 189918266 - 53 54 63 C A 189918203 3720 64 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGTGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053476 189053477 189053477 exon 1 0.01851852 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGTGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 5105 684 0.9641693 0.9402975 0.9522334 0.9994233 0.9859527 0.9904084 0.9933503 NA NA -0.0262391 -0.05305281 0.992688 0.9918793 NA -0.03964596 NA FALSE NA 1 5.637 . missense_variant&splice_region_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 38/54 1 unknown(0) NA CCC C,A 8.237e-06 2:189053477 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 missense_variant 5.856461 0.99072 0.97854 0.732398 0.9937105 0 1 TRUE 4.0618e-06 ENSE00001464936_015 ENSE00001464936 015 2 189918097 189918266 - 53 54 63 A G 189918214 3721 53 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGCCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053487 189053488 189053488 upstr_intron -11 -0.1587302 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGCCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 12191 3313 0.9422752 0.9381942 0.9402347 0.9994233 0.9859527 0.9904084 0.9933503 NA NA -0.04813313 -0.05515609 0.992688 0.9918793 NA -0.05164461 NA FALSE NA 0.004 -0.221 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 rs374901051 1 NA G:0.0002 G:0 GAC A,G 8.237e-06 2:189053488 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant -0.360918 0.24773 0.17279 0.106106 0.5062597 0.229294 1 TRUE 4.06233e-06 ENSE00001464936_016 ENSE00001464936 016 2 189918097 189918266 - 53 54 63 C A 189918215 3722 52 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTTTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053488 189053489 189053489 upstr_intron -12 -0.1746032 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTTTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 2593 2398 0.9980227 0.9976201 0.9978214 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.007614326 0.004269866 0.992688 0.9918793 NA 0.005942096 NA FALSE NA 0 -2.198 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 1 NA ACA C,A 8.237e-06 2:189053489 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant 0.222388 0.2089 0.06896 0.106106 0.4321214 0.225451 1 TRUE 2.84368e-05 ENSE00001464936_017 ENSE00001464936 017 2 189918097 189918266 - 53 54 63 G C 189918219 3723 48 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATGTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053492 189053493 189053493 upstr_intron -16 -0.2380952 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATGTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1439 1138 0.960353 0.999861 0.980107 0.9994233 0.9859527 0.9904084 0.9933503 NA NA -0.03005535 0.006510741 0.992688 0.9918793 NA -0.01177231 NA FALSE NA 0 -1.571 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 1 NA AGA G,C 8.237e-06 2:189053493 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant -0.244842 0.22886 0.09496 0.106106 0.4921649 0.152421 1 TRUE 4.06309e-06 ENSE00001464936_018 ENSE00001464936 018 2 189918097 189918266 - 53 54 63 A G 189918220 3724 47 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAACCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053493 189053494 189053494 upstr_intron -17 -0.2539683 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAACCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 940 2986 0.9981466 0.999898 0.9990223 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.007738225 0.006547714 0.992688 0.9918793 NA 0.00714297 NA FALSE NA 0 0.249 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 rs530643338 1 G:0.0006 G:0 G:0 NA G:0 G:0 G:0.0031 GAT A,G 8.237e-05 2:189053494 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant 0.223966 0.2323 0.03695 0.106106 0.6002457 0.152421 1 TRUE 4.46936e-05 ENSE00001464936_019 ENSE00001464936 019 2 189918097 189918266 - 53 54 63 A C 189918223 3725 44 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGGAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053496 189053497 189053497 upstr_intron -20 -0.3015873 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGGAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1252 3259 0.9631186 0.9542442 0.9586814 0.9994233 0.9859527 0.9904084 0.9933503 NA NA -0.02728975 -0.03910611 0.992688 0.9918793 NA -0.03319793 NA FALSE NA 0.011 1.116 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 1 NA TAC A,C 8.237e-06 2:189053497 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant 0.267595 0.55907 0.34381 0.106106 0.7272519 0.917956 1 TRUE 4.06349e-06 ENSE00001464936_020 ENSE00001464936 020 2 189918097 189918266 - 53 54 63 T C 189918227 3726 40 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTGCAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053500 189053501 189053501 upstr_intron -24 -0.3650794 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTGCAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 760 2881 1 0.9977258 0.9988629 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.00959164 0.004375572 0.992688 0.9918793 NA 0.006983606 NA FALSE NA 0 0.599 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 1 NA GTA T,C 8.237e-06 2:189053501 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant 0.115396 0.2267 0.10481 0.106106 0.4648174 0.152421 1 TRUE 8.12803e-06 ENSE00001464936_021 ENSE00001464936 021 2 189918097 189918266 - 53 54 63 A G 189918228 3727 39 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCCACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053501 189053502 189053502 upstr_intron -25 -0.3809524 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCCACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1235 1042 0.998288 0.9878657 0.9930769 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.007879685 -0.005484565 0.992688 0.9918793 NA 0.00119756 NA FALSE NA 0 0.162 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 1 NA TAG A,G 8.237e-06 2:189053502 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant 0.354505 0.24464 0.08814 0.106106 0.4671688 0.215109 1 TRUE 4.06418e-06 ENSE00001464936_022 ENSE00001464936 022 2 189918097 189918266 - 53 54 63 C T 189918230 3728 37 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAACTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053503 189053504 189053504 upstr_intron -27 -0.4126984 TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAACTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1746 3459 0.9931677 0.9446385 0.9689031 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.002759291 -0.04871181 0.992688 0.9918793 NA -0.02297626 NA FALSE NA 0 -1.123 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 1 NA GCT C,T 8.237e-06 2:189053504 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant 0.154118 0.17311 0.01117 0.106106 0.666508 0.152421 1 TRUE 4.06471e-06 ENSE00001464936_023 ENSE00001464936 023 2 189918097 189918266 - 53 54 63 C G 189918250 3729 17 TTAAAATACTGTTCCTCTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 189053523 189053524 189053524 upstr_intron -47 -0.7301587 TTAAAATACTGTTCCTCTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT mutant NA NA NA NA NA 1390 648 1 1 1 0.9994233 0.9859527 0.9904084 0.9933503 NA NA 0.00959164 0.00664974 0.992688 0.9918793 NA 0.00812069 NA FALSE NA 0 -2.44 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 37/53 1 NA ACA C,G 8.238e-06 2:189053524 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464936 intron_variant 1.76177 0.1849 0.01733 0.106106 0.7095415 0.152421 1 TRUE 4.08914e-06 ENSE00001464936_BRK ENSE00001464936 BRK 2 189918097 189918266 - 53 54 63 A,G; T,T NA NA NA TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTTTGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGCCATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT 189053370 189053540 NA NA NA NA NA NA TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTTTGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGCCATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT TTAAAATACTGTTCCTGTTTAGGATAATGTGTGAAAGCTACAGTAATCTTTGTCTCCTCCTAGGGTTCTCGAGGTGAAAATGGGCCAACTGGAGCTGTTGGTTTTGCCGGACCCCAGGTATAATTTTCAAATATCCCTAATTTACAAATAAACACTTATCTTGTTATAAT control 74 121 0 0 0 769 1280 0.03798892 0.003266859 0.02062789 0.9994233 0.9859527 0.9904084 0.9933503 -0.9994233 -0.9859527 -0.9524194 -0.9900834 0.992688 0.9918793 -0.992688 -0.9712514 0.02143657 TRUE TRUE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464936 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464940_000 ENSE00001464940 000 2 189918832 189919001 - 53 54 63 NA NA NA NA NA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 NA NA NA NA NA NA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA natural 25 56 0.9938908 0.9875349 0.9907129 3544 3626 0.9220942 0.9084475 0.9152708 0.9938908 0.9875349 0.9220942 0.9084475 0 0 0 0 0.9907129 0.9152708 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464940 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464940_001 ENSE00001464940 001 2 189918832 189919001 - 53 54 63 G T 189918842 3730 160 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTACTGAATAGCA 189054105 189054275 189054115 189054116 189054116 downstr_intron 43 1.826923 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTACTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 513 182 0.9966638 0.9891859 0.9929248 0.9938908 0.9875349 0.9220942 0.9084475 NA NA 0.07456961 0.08073834 0.9907129 0.9152708 NA 0.07765398 NA FALSE NA 0 -0.036 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 36/53 1 NA GGA G,T 1.647e-05 2:189054116 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 intron_variant -0.207053 0.23814 0.17818 0.088506 0.3952061 0.0689414 1 TRUE 8.13173e-06 ENSE00001464940_005 ENSE00001464940 005 2 189918832 189919001 - 53 54 63 G A 189918857 3734 145 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACATTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054130 189054131 189054131 downstr_intron 28 1.538462 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACATTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 5546 718 0.9995113 0.9981166 0.998814 0.9938908 0.9875349 0.9220942 0.9084475 NA NA 0.07741716 0.08966913 0.9907129 0.9152708 NA 0.08354315 NA FALSE NA 0 -0.351 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 36/53 1 NA AGT G,A 7.413e-05 2:189054131 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 intron_variant 0.275055 0.24605 0.03704 0.088506 0.5834982 0.118391 1 TRUE 7.31517e-05 ENSE00001464940_006 ENSE00001464940 006 2 189918832 189919001 - 53 54 63 C G 189918870 3735 132 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTCTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054143 189054144 189054144 downstr_intron 15 1.288462 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTCTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 219 1059 0.9661507 0.9982562 0.9822035 0.9938908 0.9875349 0.9220942 0.9084475 NA NA 0.04405659 0.08980866 0.9907129 0.9152708 NA 0.06693262 NA FALSE NA 0 -0.22 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 36/53 1 NA ACA C,G 8.236e-06 2:189054144 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 intron_variant 0.086129 0.21856 0.07253 0.106106 0.5519505 0.118391 1 TRUE 8.12783e-06 ENSE00001464940_007 ENSE00001464940 007 2 189918832 189919001 - 53 54 63 T C 189918888 3736 114 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAGAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054161 189054162 189054162 exon -4 0.9444444 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAGAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 103 2201 0.9985089 0.9984638 0.9984863 0.9938908 0.9875349 0.9220942 0.9084475 NA NA 0.07641471 0.09001624 0.9907129 0.9152708 NA 0.08321548 NA FALSE NA 1 3.066 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 36/54 1 NA TTT T,C 1.647e-05 2:189054162 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 synonymous_variant 0.391558 0.98089 0.92728 0.732398 0.6653873 0 1 TRUE 8.12678e-06 ENSE00001464940_008 ENSE00001464940 008 2 189918832 189919001 - 53 54 63 G A 189918895 3737 107 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTATTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054168 189054169 189054169 exon -11 0.8148148 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTATTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 1241 84 1 1 1 0.9938908 0.9875349 0.9220942 0.9084475 NA NA 0.07790584 0.09155249 0.9907129 0.9152708 NA 0.08472916 NA FALSE NA 1 3.84 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 36/54 1 unknown(0) NA AGT G,A 8.236e-06 2:189054169 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 missense_variant 3.637248 0.98517 0.95546 0.732398 0.9969747 0 1 TRUE 4.06355e-06 ENSE00001464940_009 ENSE00001464940 009 2 189918832 189919001 - 53 54 63 C T 189918906 3738 96 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCAGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054179 189054180 189054180 exon -22 0.6111111 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCAGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 472 855 0.9602791 0.9571587 0.9587189 0.9938908 0.9875349 0.9220942 0.9084475 NA NA 0.03818491 0.04871115 0.9907129 0.9152708 NA 0.04344803 NA FALSE NA 1 0.82 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 36/54 rs200019093&COSM1530204 1 NA CCG C,T 4.942e-05 2:189054180 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 synonymous_variant 2.461368 0.97268 0.71409 0.732398 0.5470734 0 1 TRUE 4.47005e-05 ENSE00001464940_010 ENSE00001464940 010 2 189918832 189919001 - 53 54 63 G A 189918907 3739 95 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCTGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054180 189054181 189054181 exon -23 0.5925926 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCTGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 52 785 1 0.9999515 0.9999758 0.9938908 0.9875349 0.9220942 0.9084475 NA NA 0.07790584 0.09150399 0.9907129 0.9152708 NA 0.08470492 NA FALSE NA 1 9.202 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 36/54 rs575864379 1 unknown(0) A:0.0006 A:0.0008 A:0 NA A:0 A:0 A:0.002 CGG G,A 7.413e-05 2:189054181 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 missense_variant 5.999687 0.99568 0.99611 0.732398 0.9976637 0 1 TRUE 6.09578e-05 ENSE00001464940_015 ENSE00001464940 015 2 189918832 189919001 - 53 54 63 A G 189918945 3744 57 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAACTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054218 189054219 189054219 upstr_intron -7 -0.0952381 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAACTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 733 151 0.8969475 0.8 0.8484738 0.9938908 0.9875349 0.9220942 0.9084475 NA NA -0.02514665 -0.1084475 0.9907129 0.9152708 NA -0.06679708 NA FALSE NA 0.999 2.319 . splice_region_variant&intron_variant LOW COL5A2 HGNC 2210 ENST00000374866 35/53 1 NA AAT A,G 8.236e-06 2:189054219 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 splice_region_variant 0.82236 0.36429 0.34861 0.106106 0.5997312 0.209428 1 TRUE NA ENSE00001464940_016 ENSE00001464940 016 2 189918832 189919001 - 53 54 63 A G 189918956 3745 46 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTACGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054229 189054230 189054230 upstr_intron -18 -0.2698413 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTACGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 942 123 0.8101445 0.8020519 0.8060982 0.9938908 0.9875349 0.9220942 0.9084475 NA NA -0.1119496 -0.1063957 0.9907129 0.9152708 NA -0.1091726 NA FALSE NA 0.003 0.91 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 35/53 1 NA CAT A,G 8.236e-06 2:189054230 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 intron_variant -0.180653 0.25199 0.04621 0.106106 0.5871442 0.1805 1 TRUE 8.12922e-06 ENSE00001464940_017 ENSE00001464940 017 2 189918832 189919001 - 53 54 63 A C 189918962 3746 40 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATAGGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054235 189054236 189054236 upstr_intron -24 -0.3650794 GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATAGGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 1360 869 0.8022488 0.6103277 0.7062882 0.9938908 0.9875349 0.9220942 0.9084475 NA NA -0.1198453 -0.2981199 0.9907129 0.9152708 NA -0.2089826 NA FALSE NA 0.066 1.027 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 35/53 1 NA CAT A,C 8.236e-06 2:189054236 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 intron_variant 0.119003 0.45458 0.25937 0.106106 0.3091812 0.715445 1 TRUE 4.08387e-06 ENSE00001464940_018 ENSE00001464940 018 2 189918832 189919001 - 53 54 63 G A 189918979 3747 23 GCTAAGCATGAAGATTTCTGTGTATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 189054252 189054253 189054253 upstr_intron -41 -0.6349206 GCTAAGCATGAAGATTTCTGTGTATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA mutant NA NA NA NA NA 600 34 0.9928807 1 0.9964403 0.9938908 0.9875349 0.9220942 0.9084475 NA NA 0.0707865 0.09155249 0.9907129 0.9152708 NA 0.08116949 NA FALSE NA 0 -0.117 rs114959831 intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 35/53 rs114959831 1 A:0.0092 A:0.0015 A:0.0086 NA A:0.003 A:0.0278 A:0.0072 A:0.0043 A:0.021 TGC G,A 0.017 2:189054253 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464940 intron_variant -0.006411 0.17081 0.04113 0.106106 0.5713139 0.119696 1 TRUE 0.017253 ENSE00001464940_BRK ENSE00001464940 BRK 2 189918832 189919001 - 53 54 63 A,G; T,T NA NA NA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACTTGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGCCAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA 189054105 189054275 NA NA NA NA NA NA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACTTGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGCCAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA GCTAAGCATGAAGATTTCTGTGCATTTTTTACCTCAATATGCCTATGTTCTGTTAATTGACAGGGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAGGTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCA control NA NA NA NA NA 1208 582 0.0002483011 0.0005498776 0.0003990893 0.9938908 0.9875349 0.9220942 0.9084475 NA NA -0.9218459 -0.9078976 0.9907129 0.9152708 NA -0.9148717 NA TRUE NA NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464940 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464942_000 ENSE00001464942 000 2 189921646 189921815 - 53 54 63 NA NA NA NA NA GATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAA 189056919 189057089 NA NA NA NA NA NA TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC natural 1008 1471 0.7918821 0.8304656 0.8111738 3829 3015 0.8216177 0.9134533 0.8675355 0.7918821 0.8304656 0.8216177 0.9134533 0 0 0 0 0.8111738 0.8675355 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464942 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464942_002 ENSE00001464942 002 2 189921646 189921815 - 53 54 63 T C 189921666 3749 150 GATACTGTAATGTTGGTTCCCAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAA 189056919 189057089 189056939 189056940 189056940 downstr_intron 33 1.634615 TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTGGGAACCAACATTACAGTATC TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC mutant NA NA NA NA NA 58 81 0.9082266 0.9975642 0.9528954 0.7918821 0.8304656 0.8216177 0.9134533 NA NA 0.08660885 0.08411088 0.8111738 0.8675355 NA 0.08535986 NA FALSE NA 0 -1.535 rs192360671 intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 35/53 rs192360671 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0 C:0.0001 CTA T,C 8.236e-06 2:189056940 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464942 non_coding_transcript_exon_variant 0.079448 0.12942 0.02236 0.156188 0.5841732 0.0551519 1 TRUE 8.12783e-06 ENSE00001464942_003 ENSE00001464942 003 2 189921646 189921815 - 53 54 63 C T 189921674 3750 142 GATACTGTAATGTTGGTTCCTAGCCCAGTTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAA 189056919 189057089 189056947 189056948 189056948 downstr_intron 25 1.480769 TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAACTGGGCTAGGAACCAACATTACAGTATC TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC mutant NA NA NA NA NA 266 1776 0.9911677 0.9952743 0.993221 0.7918821 0.8304656 0.8216177 0.9134533 NA NA 0.16955 0.08182095 0.8111738 0.8675355 NA 0.1256855 NA FALSE NA 0 -1.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:189056948 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464942 non_coding_transcript_exon_variant 0.479556 0.27933 0.024 0.099367 0.4786525 0.0557716 1 TRUE 4.46933e-05 ENSE00001464942_004 ENSE00001464942 004 2 189921646 189921815 - 53 54 63 C G 189921674 3751 142 GATACTGTAATGTTGGTTCCTAGCCCAGGTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAA 189056919 189057089 189056947 189056948 189056948 downstr_intron 25 1.480769 TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTACCTGGGCTAGGAACCAACATTACAGTATC TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC mutant NA NA NA NA NA 194 19 0.9952376 1 0.9976188 0.7918821 0.8304656 0.8216177 0.9134533 NA NA 0.1736198 0.08654668 0.8111738 0.8675355 NA 0.1300833 NA FALSE NA 0 -1.289 NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464942 non_coding_transcript_exon_variant 0.305482 0.25444 0.01966 0.099367 0.5758929 0.0557716 1 TRUE 1.21891e-05 ENSE00001464942_008 ENSE00001464942 008 2 189921646 189921815 - 53 54 63 A G 189921729 3755 87 GATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCGGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAA 189056919 189057089 189057002 189057003 189057003 exon 24 0.4444444 TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCCGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC mutant NA NA NA NA NA 84 260 0.8 0.7923447 0.7961723 0.7918821 0.8304656 0.8216177 0.9134533 NA NA -0.02161774 -0.1211086 0.8111738 0.8675355 NA -0.07136319 NA FALSE NA 0.972 0.284 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 35/54 rs555754492 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAG A,G 8.236e-06 2:189057003 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464942 synonymous_variant 0.954882 0.96992 0.94682 0.706548 0.5623254 0 1 TRUE 4.0623e-06 ENSE00001464942_013 ENSE00001464942 013 2 189921646 189921815 - 53 54 63 C T 189921773 3760 43 GATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATATAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAA 189056919 189057089 189057046 189057047 189057047 upstr_intron -21 -0.3174603 TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTATATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC mutant NA NA NA NA NA 765 227 0.7978981 0.8 0.798949 0.7918821 0.8304656 0.8216177 0.9134533 NA NA -0.02371964 -0.1134533 0.8111738 0.8675355 NA -0.06858648 NA FALSE NA 0 -0.321 rs149932760 intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 34/53 rs149932760 1 T:0.0004 T:0 T:0.0029 NA T:0 T:0 T:0 ACA C,T 0.0004777 2:189057047 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464942 intron_variant 0.191064 0.32659 0.05005 0.099367 0.5627419 0.0448725 1 TRUE 0.000589354 ENSE00001464942_015 ENSE00001464942 015 2 189921646 189921815 - 53 54 63 T A 189921792 3762 24 GATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTACTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCCTGGGAAAACACACAAAATACAATTGATTCATTTAATTGACTCTTTCCCACACTTGTGTGTAA 189056919 189057089 189057065 189057066 189057066 upstr_intron -40 -0.6190476 TTACACACAAGTGTGGGAAAGAGTCAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC mutant NA NA NA NA NA 89 323 0.8030749 0.9226867 0.8628808 0.7918821 0.8304656 0.8216177 0.9134533 NA NA -0.01854287 0.009233401 0.8111738 0.8675355 NA -0.004654734 NA FALSE NA 0.029 1.087 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 34/53 1 NA GTC T,A 4.118e-05 2:189057066 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464942 intron_variant 1.745493 0.22472 0.08746 0.099367 0.8578544 0.0448725 1 TRUE 3.25322e-05 ENSE00001464942_BRK ENSE00001464942 BRK 2 189921646 189921815 - 53 54 63 A,G; T,T NA NA NA GATACTGTAATGTTGGTTCCTAGCCCAGCTAGAAAAGGAATACTTTCACTTGGTCTTGCACCATCATTTCCAGCTGTGCCTTCAGCACCTTTTTCTCCTATGCCACCAAGGGAAAACACACAAAATACAATTGATTCATTTAATTGTCTCTTTCCCACACTTGTGTGTAA 189056919 189057089 NA NA NA NA NA NA TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCTTGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGACCAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC TTACACACAAGTGTGGGAAAGAGACAATTAAATGAATCAATTGTATTTTGTGTGTTTTCCCAGGGTGGCATAGGAGAAAAAGGTGCTGAAGGCACAGCTGGAAATGATGGTGCAAGAGTAAGTGAAAGTATTCCTTTTCTAGCTGGGCTAGGAACCAACATTACAGTATC control NA NA NA NA NA 46 184 0 0.08926535 0.04463267 0.7918821 0.8304656 0.8216177 0.9134533 NA NA -0.8216177 -0.824188 0.8111738 0.8675355 NA -0.8229029 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464942 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464962_000 ENSE00001464962 000 2 189929253 189929422 - 30 99 41 NA NA NA NA NA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 NA NA NA NA NA NA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA natural 51 49 0.85 0.85 0.85 2160 2409 0.9161539 0.8998906 0.9080223 0.85 0.85 0.9161539 0.8998906 0 0 0 0 0.85 0.9080223 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464962 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001464962_002 ENSE00001464962 002 2 189929253 189929422 - 30 99 41 C T 189929271 3780 152 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAACAAGTGTTTGCTACATCA 189064526 189064696 189064544 189064545 189064545 downstr_intron 12 1.413793 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAACAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 110 66 0.9778758 0.994606 0.9862409 0.85 0.85 0.9161539 0.8998906 NA NA 0.0617219 0.09471534 0.85 0.9080223 NA 0.07821862 NA FALSE NA 0 -0.606 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 25/53 1 NA GCT C,T 3.295e-05 2:189064545 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 intron_variant 0.164965 0.25255 0.06904 0.099367 0.3017058 0.105044 1 TRUE 3.25659e-05 ENSE00001464962_003 ENSE00001464962 003 2 189929253 189929422 - 30 99 41 T C 189929274 3781 149 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATGTAGCAAGTGTTTGCTACATCA 189064526 189064696 189064547 189064548 189064548 downstr_intron 9 1.310345 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATGTAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 258 245 0 0.133325 0.06666248 0.85 0.85 0.9161539 0.8998906 NA NA -0.9161539 -0.7665657 0.85 0.9080223 NA -0.8413598 NA TRUE NA 0 -0.913 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 25/53 rs201934598 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 ATA C,C 0.0001318 2:189064548 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 intron_variant -0.166385 0.20667 0.08163 0.099367 0.4061819 0.156843 1 TRUE 0.000134294 ENSE00001464962_004 ENSE00001464962 004 2 189929253 189929422 - 30 99 41 C A 189929283 3782 140 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGTGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064556 189064557 189064557 exon -1 1 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGTGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 639 152 0.0004696184 0.04141315 0.02094139 0.85 0.85 0.9161539 0.8998906 NA NA -0.9156843 -0.8584775 0.85 0.9080223 NA -0.8870809 NA TRUE NA 1 5.703 . splice_region_variant&synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 25/54 1 NA CCC C,A 8.237e-06 2:189064557 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 splice_region_variant 2.773944 0.99322 0.98804 0.706548 0.9476122 0 1 TRUE 4.06759e-06 ENSE00001464962_006 ENSE00001464962 006 2 189929253 189929422 - 30 99 41 G A 189929285 3784 138 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTTGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064558 189064559 189064559 exon -3 0.979798 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTTGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 155 612 0.8 0.8533093 0.8266547 0.85 0.85 0.9161539 0.8998906 NA NA -0.1161539 -0.04658128 0.85 0.9080223 NA -0.0813676 NA FALSE NA 1 6.558 . missense_variant&splice_region_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 25/54 1 probably_damaging(0.999) NA CGA G,A 1.647e-05 2:189064559 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 missense_variant 7.99985 0.99191 0.96966 0.706548 0.9991942 0 1 TRUE 8.13425e-06 ENSE00001464962_007 ENSE00001464962 007 2 189929253 189929422 - 30 99 41 A G 189929295 3785 128 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTCCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064568 189064569 189064569 exon -13 0.8787879 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTCCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 133 581 0.9821586 0.9749627 0.9785606 0.85 0.85 0.9161539 0.8998906 NA NA 0.06600466 0.07507204 0.85 0.9080223 NA 0.07053835 NA FALSE NA 0.555 -0.062 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 25/54 1 NA GAA A,G 1.647e-05 2:189064569 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 synonymous_variant 1.154839 0.96964 0.7404 0.706548 0.7613616 0 1 TRUE 8.13015e-06 ENSE00001464962_008 ENSE00001464962 008 2 189929253 189929422 - 30 99 41 C T 189929307 3786 116 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGAGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064580 189064581 189064581 exon -25 0.7575758 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGAGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 185 88 0.9988824 0.952231 0.9755567 0.85 0.85 0.9161539 0.8998906 NA NA 0.08272849 0.05234037 0.85 0.9080223 NA 0.06753443 NA FALSE NA 0 -1.397 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 25/54 1 NA CCC C,T 8.236e-06 2:189064581 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 synonymous_variant 1.696912 0.21991 0.03326 0.706548 0.6639299 0 1 TRUE 4.06431e-06 ENSE00001464962_013 ENSE00001464962 013 2 189929253 189929422 - 30 99 41 A T 189929351 3791 72 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTACTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064624 189064625 189064625 exon 31 0.3131313 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTACTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 85 536 0.8 0.8322518 0.8161259 0.85 0.85 0.9161539 0.8998906 NA NA -0.1161539 -0.06763884 0.85 0.9080223 NA -0.09189638 NA FALSE NA 0.98 2.991 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 25/54 1 possibly_damaging(0.635) NA GAA A,T 8.236e-06 2:189064625 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 missense_variant 4.040468 0.97284 0.86211 0.706548 0.9939076 0 1 TRUE 4.06402e-06 ENSE00001464962_014 ENSE00001464962 014 2 189929253 189929422 - 30 99 41 C A 189929353 3792 70 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGTTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064626 189064627 189064627 exon 29 0.2929293 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGTTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 434 23 0.9401616 0.9489667 0.9445641 0.85 0.85 0.9161539 0.8998906 NA NA 0.0240077 0.04907605 0.85 0.9080223 NA 0.03654187 NA FALSE NA 1 7.445 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 25/54 1 probably_damaging(1) NA ACC C,A 8.236e-06 2:189064627 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 missense_variant 7.596122 0.99488 0.99084 0.706548 0.9981811 0 1 TRUE 4.06438e-06 ENSE00001464962_016 ENSE00001464962 016 2 189929253 189929422 - 30 99 41 C T 189929363 3794 60 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGAGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064636 189064637 189064637 exon 19 0.1919192 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGAGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 92 1114 0.9780258 0.9712384 0.9746321 0.85 0.85 0.9161539 0.8998906 NA NA 0.06187188 0.07134776 0.85 0.9080223 NA 0.06660982 NA FALSE NA 1 7.445 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 25/54 rs369506320 1 probably_damaging(1) NA T:0 T:0.0001 CCC C,T 8.236e-06 2:189064637 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 missense_variant 7.873252 0.99468 0.98848 0.706548 0.9987839 0 1 TRUE 4.06464e-06 ENSE00001464962_017 ENSE00001464962 017 2 189929253 189929422 - 30 99 41 C T 189929365 3795 58 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACAGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064638 189064639 189064639 exon 17 0.1717172 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACAGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 1105 63 0.8002362 0.804589 0.8024126 0.85 0.85 0.9161539 0.8998906 NA NA -0.1159177 -0.09530167 0.85 0.9080223 NA -0.1056097 NA FALSE NA 1 7.445 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 25/54 1 probably_damaging(0.996) NA CCG C,T 8.236e-06 2:189064639 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 missense_variant 8.487679 0.99468 0.98848 0.706548 0.999507 0 1 TRUE 8.13008e-06 ENSE00001464962_019 ENSE00001464962 019 2 189929253 189929422 - 30 99 41 T C 189929373 3797 50 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAGGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064646 189064647 189064647 exon 9 0.09090909 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAGGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 265 2501 0.1181904 0.007781782 0.06298607 0.85 0.85 0.9161539 0.8998906 NA NA -0.7979635 -0.8921088 0.85 0.9080223 NA -0.8450362 NA TRUE NA 1 3.043 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 25/54 1 NA CTT T,C 8.237e-06 2:189064647 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 synonymous_variant 0.316138 0.98376 0.93699 0.706548 0.6527255 0 1 TRUE 4.06547e-06 ENSE00001464962_020 ENSE00001464962 020 2 189929253 189929422 - 30 99 41 T A 189929374 3798 49 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCTAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064647 189064648 189064648 exon 8 0.08080808 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCTAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 421 156 0.01038079 0 0.005190397 0.85 0.85 0.9161539 0.8998906 NA NA -0.9057731 -0.8998906 0.85 0.9080223 NA -0.9028319 NA TRUE NA 1 5.833 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 25/54 1 possibly_damaging(0.557) NA TTG T,A 1.647e-05 2:189064648 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 missense_variant 5.253699 0.98795 0.97467 0.706548 0.9945233 0 1 TRUE 1.21967e-05 ENSE00001464962_021 ENSE00001464962 021 2 189929253 189929422 - 30 99 41 C A 189929378 3799 45 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTTCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064651 189064652 189064652 exon 4 0.04040404 TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTTCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 1121 650 0.8111232 0.8 0.8055616 0.85 0.85 0.9161539 0.8998906 NA NA -0.1050307 -0.09989063 0.85 0.9080223 NA -0.1024607 NA FALSE NA 1 3.694 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 25/54 1 benign(0.394) NA GCA C,A 2.471e-05 2:189064652 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 missense_variant 3.707543 0.99092 0.97012 0.706548 0.9968926 0 1 TRUE 2.0334e-05 ENSE00001464962_024 ENSE00001464962 024 2 189929253 189929422 - 30 99 41 T C 189929402 3802 21 TATACTCTTTTTCTTCATGCGTCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064675 189064676 189064676 upstr_intron -21 -0.4878049 TATACTCTTTTTCTTCATGCGTCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 195 22 0.8188407 0.8065739 0.8127073 0.85 0.85 0.9161539 0.8998906 NA NA -0.09731319 -0.09331669 0.85 0.9080223 NA -0.09531494 NA FALSE NA 0 -2.145 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 24/53 rs200384423 1 C:0.0012 C:0.0045 C:0 NA C:0 C:0 C:0 C:0.0011 C:0 ATG T,C 0.0001565 2:189064676 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 intron_variant -0.316366 0.10242 0.00667 0.062308 0.300064 0.0769989 1 TRUE 9.80072e-05 ENSE00001464962_026 ENSE00001464962 026 2 189929253 189929422 - 30 99 41 A C 189929411 3804 12 TATACTCTTTTGCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 189064684 189064685 189064685 upstr_intron -30 -0.7073171 TATACTCTTTTGCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA mutant NA NA NA NA NA 185 38 0.8859867 0.8 0.8429934 0.85 0.85 0.9161539 0.8998906 NA NA -0.03016718 -0.09989063 0.85 0.9080223 NA -0.06502891 NA FALSE NA 0 -0.613 NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:189064685 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00001464962 intron_variant -0.377303 0.3051 0.28166 0.062308 0.5152733 0.0443366 1 TRUE 4.09903e-06 ENSE00001464962_BRK ENSE00001464962 BRK 2 189929253 189929422 - 30 99 41 A,G; T,T NA NA NA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACTTGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGCCAAGAATATAGCAAGTGTTTGCTACATCA 189064526 189064696 NA NA NA NA NA NA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACTTGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGCCAAGAATATAGCAAGTGTTTGCTACATCA TATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAGGGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGGGTAAGAATATAGCAAGTGTTTGCTACATCA control NA NA NA NA NA 197 173 0 0.001854404 0.0009272022 0.85 0.85 0.9161539 0.8998906 NA NA -0.9161539 -0.8980362 0.85 0.9080223 NA -0.9070951 NA TRUE NA NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00001464962 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001465378_000 ENSE00001465378 000 9 101811916 101812085 + 56 69 45 NA NA NA NA NA GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGGCCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCGATTGGCCTAAGCT 99049633 99049803 NA NA NA NA NA NA GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGGCCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCGATTGGCCTAAGCT GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGGCCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCGATTGGCCTAAGCT natural NA NA NA NA NA 1829 1017 0.9977278 0.9982981 0.998013 NA NA 0.9977278 0.9982981 NA NA 0 0 NA 0.998013 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL15A1 NA NA NA ENSG00000204291 ENSE00001465378 NA NA NA NA NA NA NA 3.683859e-06 FALSE NA ENSE00001465378_006 ENSE00001465378 006 9 101811916 101812085 + 56 69 45 G A 101811973 1233 58 GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGACCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCGATTGGCCTAAGCT 99049633 99049803 99049690 99049691 99049691 exon 2 0.02898551 GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGACCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCGATTGGCCTAAGCT GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGGCCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCGATTGGCCTAAGCT mutant NA NA NA NA NA 68 19 1 1 1 NA NA 0.9977278 0.9982981 NA NA 0.002272177 0.001701911 NA 0.998013 NA 0.001987044 NA FALSE NA 1 6.087 NA NA NA COL15A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:99049691 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465378 missense_variant 2.811765 0.95645 0.94481 0.487112 0.9961854 0 3.683859e-06 FALSE 4.06408e-06 ENSE00001465378_030 ENSE00001465378 030 9 101811916 101812085 + 56 69 45 G A 101812072 1257 157 GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGGCCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCAATTGGCCTAAGCT 99049633 99049803 99049789 99049790 99049790 downstr_intron 32 1.727273 GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGGCCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCAATTGGCCTAAGCT GCCCCTGCATTCACAACAACCTGAACTAATGGAATGGCCTTTTTTTCTTCCTTCAGGGCCCACCTGGCTTACCTGGCCCTCCAGGCCCCCCTGGGCCACCTGGAGCTGTGATTAACATCAAAGGAGTAAGTTGGCACGCAGTGGGAAGACCTTCCCGATTGGCCTAAGCT mutant NA NA NA NA NA 47 75 1 1 1 NA NA 0.9977278 0.9982981 NA NA 0.002272177 0.001701911 NA 0.998013 NA 0.001987044 NA FALSE NA 0 -0.602 rs13296166 intron_variant MODIFIER COL15A1 HGNC 2192 ENST00000375001 29/41 rs13296166 1 A:0.1536 A:0.09 A:0.1484 NA A:0.1736 A:0.1501 A:0.226 A:0.0908 A:0.1342 CGA G 0.138 9:99049790 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465378 intron_variant -0.010819 0.2365 0.07174 0.053691 0.4819938 0.111109 3.683859e-06 FALSE 0.138878 ENSE00001465387_000 ENSE00001465387 000 9 101806794 101806963 + 56 69 45 NA NA NA NA NA AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 NA NA NA NA NA NA TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT natural 172 253 0.9082164 0.9097623 0.9089894 1163 2199 0.9880615 0.916504 0.9522827 0.9082164 0.9097623 0.9880615 0.916504 0 0 0 0 0.9089894 0.9522827 0 0 0 FALSE FALSE NA NA NA NA NA COL15A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL15A1 NA NA NA ENSG00000204291 ENSE00001465387 NA NA NA NA NA NA NA 3.683859e-06 FALSE NA ENSE00001465387_001 ENSE00001465387 001 9 101806794 101806963 + 56 69 45 G T 101806813 1197 20 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTACTCCTTGCCACCTTGTCCA 99044511 99044681 99044530 99044531 99044531 upstr_intron -37 -0.6428571 TGGACAAGGTGGCAAGGAGTAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 229 817 0.8115611 0.9775303 0.8945457 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.1765004 0.06102629 0.9089894 0.9522827 NA -0.05773704 NA FALSE NA 0.957 0.227 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA GGA G,T 1.647e-05 9:99044531 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 0.298533 0.3843 0.54973 0.053691 0.8071948 0.046323 3.683859e-06 FALSE 1.22111e-05 ENSE00001465387_003 ENSE00001465387 003 9 101806794 101806963 + 56 69 45 T A 101806816 1199 23 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGTCTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044533 99044534 99044534 upstr_intron -34 -0.5892857 TGGACAAGGTGGCAAGGAGGAGACCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 911 1071 0.9967742 0.9996082 0.9981912 0.9082164 0.9097623 0.9880615 0.916504 NA NA 0.008712683 0.08310415 0.9089894 0.9522827 NA 0.04590842 NA FALSE NA 0.001 -0.494 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs376334203 1 NA A:0 A:0.0001 GTC T,A 8.236e-06 9:99044534 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 0.762109 0.12524 0.00254 0.053691 0.7567965 0.046323 3.683859e-06 FALSE 4.06858e-06 ENSE00001465387_004 ENSE00001465387 004 9 101806794 101806963 + 56 69 45 C T 101806817 1200 24 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGAACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044534 99044535 99044535 upstr_intron -33 -0.5714286 TGGACAAGGTGGCAAGGAGGAGTTCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 938 407 0.9983653 0.9902773 0.9943213 0.9082164 0.9097623 0.9880615 0.916504 NA NA 0.01030381 0.07377326 0.9089894 0.9522827 NA 0.04203853 NA FALSE NA 0 -0.044 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA TCC C,T 8.236e-06 9:99044535 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 0.573584 0.17311 0.01737 0.053691 0.7556318 0.046875 3.683859e-06 FALSE 4.06838e-06 ENSE00001465387_006 ENSE00001465387 006 9 101806794 101806963 + 56 69 45 A T 101806821 1202 28 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGACAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044538 99044539 99044539 upstr_intron -29 -0.5 TGGACAAGGTGGCAAGGAGGAGTCCTGTCTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 1330 311 0.9650269 0.9791048 0.9720659 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.02303454 0.06260082 0.9089894 0.9522827 NA 0.01978314 NA FALSE NA 0 -0.09 NA NA NA COL15A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:99044539 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 0.390285 0.2332 0.11326 0.053691 0.7959291 0.046875 3.683859e-06 FALSE 4.06646e-06 ENSE00001465387_007 ENSE00001465387 007 9 101806794 101806963 + 56 69 45 C A 101806822 1203 29 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAATTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044539 99044540 99044540 upstr_intron -28 -0.4821429 TGGACAAGGTGGCAAGGAGGAGTCCTGAATTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 135 322 0.9458542 0.9574756 0.9516649 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.04220727 0.04097154 0.9089894 0.9522827 NA -0.0006178649 NA FALSE NA 0 -0.105 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA ACT C,A 8.236e-06 9:99044540 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 0.561265 0.24802 0.1189 0.053691 0.7082862 0.046875 3.683859e-06 FALSE 4.0661e-06 ENSE00001465387_009 ENSE00001465387 009 9 101806794 101806963 + 56 69 45 T C 101806828 1205 35 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCGATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044545 99044546 99044546 upstr_intron -22 -0.375 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATCGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 188 124 0.9932422 0.9996925 0.9964673 0.9082164 0.9097623 0.9880615 0.916504 NA NA 0.005180721 0.08318849 0.9089894 0.9522827 NA 0.0441846 NA FALSE NA 0 -4.155 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs568535631 1 C:0.0010 C:0 C:0 NA C:0 C:0 C:0.0051 TTG T,C 0.0005683 9:99044546 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant -0.343324 0.09558 0.00464 0.053691 0.2683734 0.046875 3.683859e-06 FALSE 0.000475548 ENSE00001465387_010 ENSE00001465387 010 9 101806794 101806963 + 56 69 45 G A 101806831 1206 38 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATTTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044548 99044549 99044549 upstr_intron -19 -0.3214286 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAAATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 725 880 0.9839132 0.9980299 0.9909715 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.004148238 0.08152584 0.9089894 0.9522827 NA 0.0386888 NA FALSE NA 0.259 1.251 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA AGA G,A 1.647e-05 9:99044549 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant -0.207112 0.09594 0.00048 0.053691 0.512778 0.09251 3.683859e-06 FALSE 8.1281e-06 ENSE00001465387_011 ENSE00001465387 011 9 101806794 101806963 + 56 69 45 T C 101806835 1207 42 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAGCATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044552 99044553 99044553 upstr_intron -15 -0.25 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGCTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 117 826 0.4637307 0.36503 0.4143804 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.5243308 -0.551474 0.9089894 0.9522827 NA -0.5379024 NA TRUE NA 0.581 0.842 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs370772501 1 NA C:0.0002 C:0 GTT T,C 1.647e-05 9:99044553 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 0.137204 0.8496 0.5291 0.053691 0.4937425 0.146534 3.683859e-06 FALSE 8.12724e-06 ENSE00001465387_012 ENSE00001465387 012 9 101806794 101806963 + 56 69 45 T C 101806836 1208 43 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGGACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044553 99044554 99044554 upstr_intron -14 -0.2321429 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTCCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 186 332 0.8146282 0.8 0.8073141 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.1734333 -0.116504 0.9089894 0.9522827 NA -0.1449687 NA FALSE NA 0.69 1.958 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA TTC T,C 8.236e-06 9:99044554 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 0.302166 0.94409 0.7858 0.053691 0.5130138 0.158242 3.683859e-06 FALSE NA ENSE00001465387_014 ENSE00001465387 014 9 101806794 101806963 + 56 69 45 C T 101806852 1210 59 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCACCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044569 99044570 99044570 exon 3 0.04347826 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGTGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 640 305 0.8095254 0.8887127 0.8491191 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.1785361 -0.02779126 0.9089894 0.9522827 NA -0.1031637 NA FALSE NA 0.023 -2.671 rs151134132 downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs151134132&COSM1103178 1 NA T:0.0002 T:0.0001 GCG C,T 5.765e-05 9:99044570 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 splice_region_variant 0.617899 0.81557 0.00812 0.487112 0.3456752 0 3.683859e-06 FALSE 5.28202e-05 ENSE00001465387_015 ENSE00001465387 015 9 101806794 101806963 + 56 69 45 G A 101806853 1211 60 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTTGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044570 99044571 99044571 exon 4 0.05797101 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCAAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 591 498 0.9861282 0.988712 0.9874201 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.001933279 0.07220801 0.9089894 0.9522827 NA 0.03513737 NA FALSE NA 1 5.72 rs185912222 downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs185912222 1 A:0.0006 A:0 A:0.0043 NA A:0 A:0 A:0 CGA G,A 4.118e-05 9:99044571 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 missense_variant 4.46126 0.97195 0.91493 0.487112 0.9971054 0 3.683859e-06 FALSE 2.844e-05 ENSE00001465387_016 ENSE00001465387 016 9 101806794 101806963 + 56 69 45 G A 101806858 1212 65 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCTTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044575 99044576 99044576 exon 9 0.1304348 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAAGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 137 771 0.9984883 0.9979502 0.9982192 0.9082164 0.9097623 0.9880615 0.916504 NA NA 0.01042683 0.08144618 0.9089894 0.9522827 NA 0.04593651 NA FALSE NA 1 1.297 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs570788435 1 A:0.0010 A:0 A:0 NA A:0 A:0 A:0.0051 AGG G,A 0.0003295 9:99044576 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 synonymous_variant 0.506541 0.96738 0.73432 0.487112 0.4610675 0 3.683859e-06 FALSE 0.000357506 ENSE00001465387_017 ENSE00001465387 017 9 101806794 101806963 + 56 69 45 G A 101806859 1213 66 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCTCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044576 99044577 99044577 exon 10 0.1449275 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGAGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 548 1900 0.8307674 0.9865105 0.9086389 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.1572941 0.0700065 0.9089894 0.9522827 NA -0.04364379 NA FALSE NA 1 5.72 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA GGG G,A 8.236e-06 9:99044577 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 missense_variant 4.386672 0.98282 0.93476 0.487112 0.9980074 0 3.683859e-06 FALSE 8.12486e-06 ENSE00001465387_018 ENSE00001465387 018 9 101806794 101806963 + 56 69 45 C T 101806866 1214 73 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCAGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044583 99044584 99044584 exon 17 0.2463768 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCTGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 1154 106 0.8051005 0.8023801 0.8037403 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.182961 -0.1141239 0.9089894 0.9522827 NA -0.1485424 NA FALSE NA 0.998 4.525 rs140219439 downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs140219439&COSM3652262 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 T:0 T:0.0002 CCG C,T 2.471e-05 9:99044584 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 missense_variant 5.245209 0.98023 0.90465 0.487112 0.9926853 0 3.683859e-06 FALSE 2.43758e-05 ENSE00001465387_019 ENSE00001465387 019 9 101806794 101806963 + 56 69 45 G A 101806867 1215 74 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCTGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044584 99044585 99044585 exon 18 0.2608696 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCAGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 354 1274 0.8018192 0.9255993 0.8637093 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.1862423 0.009095286 0.9089894 0.9522827 NA -0.08857349 NA FALSE NA 0 -5.262 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:99044585 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 synonymous_variant 0.755949 0.07428 0.00259 0.487112 0.4489122 0 3.683859e-06 FALSE 0.000215321 ENSE00001465387_020 ENSE00001465387 020 9 101806794 101806963 + 56 69 45 G T 101806867 1216 74 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCAGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044584 99044585 99044585 exon 18 0.2608696 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCTGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 186 590 0.9854225 0.9898451 0.9876338 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.002638976 0.0733411 0.9089894 0.9522827 NA 0.03535106 NA FALSE NA 0 -5.262 NA NA NA COL15A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL15A1 NA NA NA ENSG00000204291 ENSE00001465387 synonymous_variant 0.427578 0.07606 0.00487 0.487112 0.4355718 0 3.683859e-06 FALSE 4.06266e-06 ENSE00001465387_022 ENSE00001465387 022 9 101806794 101806963 + 56 69 45 T C 101806875 1218 82 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGGTGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044592 99044593 99044593 exon 26 0.3768116 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCACCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 205 665 0.9258883 0.9364734 0.9311809 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.06217315 0.01996938 0.9089894 0.9522827 NA -0.02110188 NA FALSE NA 0.98 3.105 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA ATC T,C 8.236e-06 9:99044593 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 missense_variant 2.117079 0.97979 0.85872 0.487112 0.9934133 0 3.683859e-06 FALSE 4.06253e-06 ENSE00001465387_023 ENSE00001465387 023 9 101806794 101806963 + 56 69 45 C T 101806876 1219 83 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGAATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044593 99044594 99044594 exon 27 0.3913043 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATTCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 276 1593 0.9290421 0.9355206 0.9322813 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.05901939 0.01901658 0.9089894 0.9522827 NA -0.02000141 NA FALSE NA 0.721 1.017 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 COSM752309 1 NA TCC C,T 9.884e-05 9:99044594 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 synonymous_variant 1.714263 0.97071 0.4916 0.487112 0.7743426 0 3.683859e-06 FALSE 8.12486e-05 ENSE00001465387_024 ENSE00001465387 024 9 101806794 101806963 + 56 69 45 A G 101806887 1220 94 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGCCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044604 99044605 99044605 exon -32 0.5507246 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGGCATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 363 1413 0.983357 0.9671416 0.9752493 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.004704511 0.05063755 0.9089894 0.9522827 NA 0.02296652 NA FALSE NA 0.948 3.703 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA GAC A,G 8.236e-06 9:99044605 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 missense_variant 3.42773 0.78463 0.74576 0.487112 0.9912094 0 3.683859e-06 FALSE 4.06246e-06 ENSE00001465387_025 ENSE00001465387 025 9 101806794 101806963 + 56 69 45 G C 101806897 1221 104 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCGAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044614 99044615 99044615 exon -22 0.6956522 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTCGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 1016 1257 0.9990531 0.9998742 0.9994636 0.9082164 0.9097623 0.9880615 0.916504 NA NA 0.01099161 0.08337015 0.9089894 0.9522827 NA 0.04718088 NA FALSE NA 1 1.513 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs368105489 1 NA C:0 C:0.0001 TGG G,C 8.236e-06 9:99044615 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 synonymous_variant 0.466003 0.98354 0.83672 0.487112 0.7116353 0 3.683859e-06 FALSE 4.06263e-06 ENSE00001465387_026 ENSE00001465387 026 9 101806794 101806963 + 56 69 45 C G 101806931 1222 138 AAGCTGGGGCAGATATGTGCCTGCAGGGTCTGCTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044648 99044649 99044649 downstr_intron 13 1.295455 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCAGCAGACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 96 1004 0.8232472 0.8469147 0.835081 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.1648143 -0.06958929 0.9089894 0.9522827 NA -0.1172018 NA FALSE NA 0 -0.624 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA ACC C,G 8.236e-06 9:99044649 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 2.043027 0.21976 0.03473 0.053691 0.8405553 0.32466 3.683859e-06 FALSE NA ENSE00001465387_027 ENSE00001465387 027 9 101806794 101806963 + 56 69 45 G C 101806934 1223 141 AAGCTGGGGCAGATATGTGCCTGCAGGGTGTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044651 99044652 99044652 downstr_intron 16 1.363636 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCACACCCTGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 478 39 0.9980709 1 0.9990354 0.9082164 0.9097623 0.9880615 0.916504 NA NA 0.01000939 0.08349599 0.9089894 0.9522827 NA 0.04675269 NA FALSE NA 0 0.486 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 rs573210859 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AGA G,C 8.236e-06 9:99044652 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 1.809569 0.26925 0.0439 0.053691 0.8507462 0.238456 3.683859e-06 FALSE 4.06319e-06 ENSE00001465387_028 ENSE00001465387 028 9 101806794 101806963 + 56 69 45 T G 101806939 1224 146 AAGCTGGGGCAGATATGTGCCTGCCGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044656 99044657 99044657 downstr_intron 21 1.477273 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCGGCAGGCACATATCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 324 370 0.7364104 0.8172464 0.7768284 0.9082164 0.9097623 0.9880615 0.916504 NA NA -0.251651 -0.09925762 0.9089894 0.9522827 NA -0.1754543 NA FALSE NA 0 -0.271 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA CTG T,G 8.236e-06 9:99044657 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 2.199574 0.20267 0.04798 0.053691 0.8898152 0.238456 3.683859e-06 FALSE 4.06309e-06 ENSE00001465387_031 ENSE00001465387 031 9 101806794 101806963 + 56 69 45 A G 101806950 1227 157 AAGCTGGGGCAGACATGTGCCTGCAGGGTCTGGTGACATAATTACCTTTTTCCCCATCAGCCTTTCCAGAGGAATGTCCTCTGTCAGGATGGCACCCGGCTCTCCCTTCTCGCCCTGCAATTCAGAGAACATCTCAATGAAGTCAGGACTCCTCCTTGCCACCTTGTCCA 99044511 99044681 99044667 99044668 99044668 downstr_intron 32 1.727273 TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATGTCTGCCCCAGCTT TGGACAAGGTGGCAAGGAGGAGTCCTGACTTCATTGAGATGTTCTCTGAATTGCAGGGCGAGAAGGGAGAGCCGGGTGCCATCCTGACAGAGGACATTCCTCTGGAAAGGCTGATGGGGAAAAAGGTAATTATGTCACCAGACCCTGCAGGCACATATCTGCCCCAGCTT mutant NA NA NA NA NA 443 692 0.9889046 0.9945511 0.9917278 0.9082164 0.9097623 0.9880615 0.916504 NA NA 0.0008431098 0.0780471 0.9089894 0.9522827 NA 0.0394451 NA FALSE NA 0 -0.151 . downstream_gene_variant MODIFIER COL15A1 HGNC 2192 ENST00000496686 1 NA TAT A,G 2.471e-05 9:99044668 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465387 intron_variant 1.932778 0.21526 0.0466 0.053691 0.901523 0.238456 3.683859e-06 FALSE 1.62521e-05 ENSE00001465407_000 ENSE00001465407 000 9 101784313 101784482 + 60 60 50 NA NA NA NA NA AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 NA NA NA NA NA NA AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT natural 485 451 0.8467797 0.8426235 0.8447016 1771 1522 0.8516301 0.8088468 0.8302385 0.8467797 0.8426235 0.8516301 0.8088468 0 0 0 0 0.8447016 0.8302385 0 0 0 FALSE FALSE NA NA NA NA NA COL15A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL15A1 NA NA NA ENSG00000204291 ENSE00001465407 NA NA NA NA NA NA NA 3.683859e-06 FALSE NA ENSE00001465407_001 ENSE00001465407 001 9 101784313 101784482 + 60 60 50 G C 101784326 1148 14 AGGTGGGGAGATGCTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022043 99022044 99022044 upstr_intron -47 -0.7666667 AGGTGGGGAGATGCTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 102 150 0.8015786 0.9010307 0.8513047 0.8467797 0.8426235 0.8516301 0.8088468 NA NA -0.05005146 0.09218389 0.8447016 0.8302385 NA 0.02106622 NA FALSE NA 0.002 0.961 . intron_variant MODIFIER COL15A1 HGNC 2192 ENST00000375001 12/41 1 NA GGT G 8.236e-06 9:99022044 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 intron_variant -0.331267 0.13729 0.05307 0.053691 0.2589272 0.0448725 3.683859e-06 FALSE 8.13372e-06 ENSE00001465407_006 ENSE00001465407 006 9 101784313 101784482 + 60 60 50 G A 101784346 1153 34 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCATTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022063 99022064 99022064 upstr_intron -27 -0.4333333 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCATTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 488 82 0.8493708 0.9802892 0.91483 0.8467797 0.8426235 0.8516301 0.8088468 NA NA -0.002259305 0.1714424 0.8447016 0.8302385 NA 0.08459155 NA FALSE NA 0 -0.791 . intron_variant MODIFIER COL15A1 HGNC 2192 ENST00000375001 12/41 rs376032418 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0.0005 A:0.0001 CGT C 9.884e-05 9:99022064 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 intron_variant -0.06817 0.12296 0.01094 0.053691 0.9344096 0.0455939 3.683859e-06 FALSE 8.1248e-05 ENSE00001465407_007 ENSE00001465407 007 9 101784313 101784482 + 60 60 50 T C 101784375 1154 63 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGCGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022092 99022093 99022093 exon 3 0.05 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGCGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 1225 589 0.9909246 0.9182943 0.9546095 0.8467797 0.8426235 0.8516301 0.8088468 NA NA 0.1392945 0.1094475 0.8447016 0.8302385 NA 0.124371 NA FALSE NA 1 0.547 . splice_region_variant&synonymous_variant LOW COL15A1 HGNC 2192 ENST00000375001 13/42 1 NA GTG T 8.236e-06 9:99022093 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 splice_region_variant 0.045469 0.75402 0.48165 0.487112 0.496428 0 3.683859e-06 FALSE 4.06091e-06 ENSE00001465407_008 ENSE00001465407 008 9 101784313 101784482 + 60 60 50 G A 101784376 1155 64 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTAATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022093 99022094 99022094 exon 4 0.06666667 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTAATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 116 539 0.06771928 0.1527428 0.110231 0.8467797 0.8426235 0.8516301 0.8088468 NA NA -0.7839108 -0.656104 0.8447016 0.8302385 NA -0.7200074 NA TRUE NA 1 2.227 . missense_variant MODERATE COL15A1 HGNC 2192 ENST00000375001 13/42 1 tolerated(0.06) benign(0.051) NA TGA G 8.236e-06 9:99022094 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 missense_variant 1.079554 0.74291 0.56446 0.487112 0.6312905 0 3.683859e-06 FALSE 4.06068e-06 ENSE00001465407_009 ENSE00001465407 009 9 101784313 101784482 + 60 60 50 C T 101784380 1156 68 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGTTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022097 99022098 99022098 exon 8 0.1333333 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGTTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 367 231 0.0008182674 0.002782417 0.001800342 0.8467797 0.8426235 0.8516301 0.8088468 NA NA -0.8508118 -0.8060644 0.8447016 0.8302385 NA -0.8284381 NA TRUE NA 0.998 2.343 . missense_variant MODERATE COL15A1 HGNC 2192 ENST00000375001 13/42 1 tolerated(0.08) benign(0.068) NA GCT C 1.647e-05 9:99022098 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 missense_variant 1.413419 0.56709 0.70155 0.487112 0.7906889 0 3.683859e-06 FALSE 1.21821e-05 ENSE00001465407_010 ENSE00001465407 010 9 101784313 101784482 + 60 60 50 G A 101784383 1157 71 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGAGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022100 99022101 99022101 exon 11 0.1833333 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGAGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 175 26 0.8832337 0.8 0.8416169 0.8467797 0.8426235 0.8516301 0.8088468 NA NA 0.03160363 -0.008846842 0.8447016 0.8302385 NA 0.01137839 NA FALSE NA 0.918 -0.275 . missense_variant MODERATE COL15A1 HGNC 2192 ENST00000375001 13/42 rs370443025 1 tolerated(0.41) benign(0.001) NA A:0.0002 A:0 GGG G 1.647e-05 9:99022101 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 missense_variant -0.924979 0.09753 0.09951 0.487112 0.3758433 0 3.683859e-06 FALSE 8.12156e-06 ENSE00001465407_013 ENSE00001465407 013 9 101784313 101784482 + 60 60 50 T A 101784402 1160 90 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCACCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022119 99022120 99022120 exon 30 0.5 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCACCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 194 223 0.94928 0.9909859 0.9701329 0.8467797 0.8426235 0.8516301 0.8088468 NA NA 0.09764991 0.1821391 0.8447016 0.8302385 NA 0.1398945 NA FALSE NA 0 -0.755 . synonymous_variant LOW COL15A1 HGNC 2192 ENST00000375001 13/42 1 NA CTC T 1.647e-05 9:99022120 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 synonymous_variant -1.191022 0.11263 0.01917 0.487112 0.1792308 0 3.683859e-06 FALSE 8.1215e-06 ENSE00001465407_014 ENSE00001465407 014 9 101784313 101784482 + 60 60 50 C T 101784410 1161 98 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACTTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022127 99022128 99022128 exon -23 0.6333333 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACTTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 9568 709 0.7749612 0.808981 0.7919711 0.8467797 0.8426235 0.8516301 0.8088468 NA NA -0.07666884 0.0001341769 0.8447016 0.8302385 NA -0.03826733 NA FALSE NA 0.001 0.133 . missense_variant MODERATE COL15A1 HGNC 2192 ENST00000375001 13/42 1 tolerated(0.94) benign(0.026) NA CCT C 9.06e-05 9:99022128 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 missense_variant 0.336135 0.13847 0.02543 0.553676 0.241994 0 3.683859e-06 FALSE 4.8729e-05 ENSE00001465407_017 ENSE00001465407 017 9 101784313 101784482 + 60 60 50 C T 101784428 1164 116 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACTCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022145 99022146 99022146 exon -5 0.9333333 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACTCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 50 565 1 0.9999326 0.9999663 0.8467797 0.8426235 0.8516301 0.8088468 NA NA 0.1483699 0.1910858 0.8447016 0.8302385 NA 0.1697279 NA FALSE NA 1 2.103 . missense_variant MODERATE COL15A1 HGNC 2192 ENST00000375001 13/42 1 deleterious(0.04) benign(0.011) NA CCC C 8.236e-06 9:99022146 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 missense_variant 1.778883 0.95386 0.69812 0.594549 0.6828127 0 3.683859e-06 FALSE 4.06091e-06 ENSE00001465407_020 ENSE00001465407 020 9 101784313 101784482 + 60 60 50 G C 101784433 1167 121 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGCTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 99022150 99022151 99022151 downstr_intron 1 1.020408 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGCTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 64 98 0 0 0 0.8467797 0.8426235 0.8516301 0.8088468 NA NA -0.8516301 -0.8088468 0.8447016 0.8302385 NA -0.8302385 NA TRUE NA 1 3.546 . splice_donor_variant HIGH COL15A1 HGNC 2192 ENST00000375001 13/41 rs374848020 1 NA C:0 C:0.0001 HC GGT G 8.236e-06 9:99022151 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 splice_donor_variant 2.648928 0.95855 0.91357 0.080754 0.9557944 0.226927 3.683859e-06 FALSE 8.12216e-06 ENSE00001465407_027 ENSE00001465407 027 9 101784313 101784482 + 60 60 50 A G 101784461 1174 149 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACGCACAGGTGTAAGACCAGGGAT 99022030 99022200 99022178 99022179 99022179 downstr_intron 29 1.591837 AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACGCACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT mutant NA NA NA NA NA 53 414 0.9682285 0.9447301 0.9564793 0.8467797 0.8426235 0.8516301 0.8088468 NA NA 0.1165984 0.1358833 0.8447016 0.8302385 NA 0.1262408 NA FALSE NA 0 -1.392 . intron_variant MODIFIER COL15A1 HGNC 2192 ENST00000375001 13/41 1 NA CAC A 8.236e-06 9:99022179 COL15A1 HGNC Symbol protein_coding 127613 ENSG00000204291 ENSE00001465407 intron_variant -0.060716 0.08554 0.00353 0.053691 0.628504 0.0518458 3.683859e-06 FALSE 4.06213e-06 ENSE00001465407_BRK ENSE00001465407 BRK 9 101784313 101784482 + 60 60 50 A,G; T,T NA NA NA AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTTTGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGCCGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT 99022030 99022200 NA NA NA NA NA NA AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTTTGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGCCGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT AGGTGGGGAGATGGTAGGAACAGAGTTCCAGCCGTTCACTGACCATTTTGTTCTCTTTAGGGTGATGCTGGGGAGGAGCTTCCTGGCCCTCCTGAACCTTCTGGGCCTGTTGGACCCACGGTGAGATTCCCATCCAGGCTTGTCACACACACAGGTGTAAGACCAGGGAT control 286 398 0 0 0 751 1004 0.06332896 0.0003186154 0.03182379 0.8467797 0.8426235 0.8516301 0.8088468 -0.8467797 -0.8426235 -0.7883011 -0.8085282 0.8447016 0.8302385 -0.8447016 -0.7984147 0.04628693 TRUE TRUE NA NA NA NA NA COL15A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL15A1 NA NA NA ENSG00000204291 ENSE00001465407 NA NA NA NA NA NA NA 3.683859e-06 FALSE NA ENSE00001465477_000 ENSE00001465477 000 1 21094038 21094207 - 39 81 50 NA NA NA NA NA CAGCTCCACAGCACTCAAACTGTGGTATAGATGTCTTACCTTTCTGTTTCTGGATTTCTGAGGTGTTTTTCTTGATTTCTGAACCACAACAAAACTTCCAGAAGCACCTTTTCCTTTAACCTAAAGTAAATTAATTTTTGTTATTCTAGTATTCATAACTTTACAGTAGG 20767544 20767714 NA NA NA NA NA NA CCTACTGTAAAGTTATGAATACTAGAATAACAAAAATTAATTTACTTTAGGTTAAAGGAAAAGGTGCTTCTGGAAGTTTTGTTGTGGTTCAGAAATCAAGAAAAACACCTCAGAAATCCAGAAACAGAAAGGTAAGACATCTATACCACAGTTTGAGTGCTGTGGAGCTG CCTACTGTAAAGTTATGAATACTAGAATAACAAAAATTAATTTACTTTAGGTTAAAGGAAAAGGTGCTTCTGGAAGTTTTGTTGTGGTTCAGAAATCAAGAAAAACACCTCAGAAATCCAGAAACAGAAAGGTAAGACATCTATACCACAGTTTGAGTGCTGTGGAGCTG natural NA NA NA NA NA 71 418 1 0.9630951 0.9815475 NA NA 1 0.9630951 NA NA 0 0 NA 0.9815475 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001465477 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001466198_000 ENSE00001466198 000 2 174125738 174125907 + 53 75 42 NA NA NA NA NA TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 NA NA NA NA NA NA TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT natural 61 26 0.9860019 0.991396 0.988699 948 476 0.9853278 0.9990348 0.9921813 0.9860019 0.991396 0.9853278 0.9990348 0 0 0 0 0.988699 0.9921813 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001466198 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001466198_007 ENSE00001466198 007 2 174125738 174125907 + 53 75 42 C A 174125763 3252 26 TAGTAGAGCAGACTGTGTTATGGTAATACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261034 173261035 173261035 upstr_intron -28 -0.509434 TAGTAGAGCAGACTGTGTTATGGTAATACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 331 331 1 1 1 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01467215 0.0009652238 0.988699 0.9921813 NA 0.007818688 NA FALSE NA 0 -0.241 NA NA NA MLTK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAP3K20 NA NA NA ENSG00000091436 ENSE00001466198 intron_variant 2.168455 0.26038 0.05479 0.156188 0.8507297 0.172027 NA NA 8.13385e-06 ENSE00001468233_000 ENSE00001468233 000 11 103306626 103306795 + 45 90 35 NA NA NA NA NA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 NA NA NA NA NA NA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA natural NA NA NA NA NA 2112 1244 0.9509744 0.8182201 0.8845973 NA NA 0.9509744 0.8182201 NA NA 0 0 NA 0.8845973 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYNC2H1 NA NA NA ENSG00000187240 ENSE00003666819 NA NA NA NA NA NA NA 2.178537e-21 FALSE NA ENSE00001468233_001 ENSE00001468233 001 11 103306626 103306795 + 45 90 35 C T 103306639 2346 14 AGTATCATATACATAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435910 103435911 103435911 upstr_intron -32 -0.6888889 AGTATCATATACATAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 1430 206 0.9980223 0.9954393 0.9967308 NA NA 0.9509744 0.8182201 NA NA 0.04704785 0.1772192 NA 0.8845973 NA 0.1121335 NA FALSE NA 0 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:103435911 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 intron_variant 0.128802 0.08015 0.00011 0.061011 0.5188463 0.0443366 2.178537e-21 FALSE 5.98168e-05 ENSE00001468233_002 ENSE00001468233 002 11 103306626 103306795 + 45 90 35 C A 103306639 2347 14 AGTATCATATACAAAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435910 103435911 103435911 upstr_intron -32 -0.6888889 AGTATCATATACAAAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant 10 10 0.9966049 0.9927816 0.9946933 NA NA NA NA NA NA NA 0.9509744 0.8182201 NA NA NA NA NA 0.8845973 NA NA NA NA NA 0 0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYNC2H1 NA NA NA ENSG00000187240 ENSE00003666819 intron_variant 0.186127 0.29413 0.04164 0.061011 0.5344968 0.0443366 2.178537e-21 FALSE 0 ENSE00001468233_003 ENSE00001468233 003 11 103306626 103306795 + 45 90 35 A C 103306641 2348 16 AGTATCATATACACACACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435912 103435913 103435913 upstr_intron -30 -0.6444444 AGTATCATATACACACACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 82 3254 1 0.99548 0.99774 NA NA 0.9509744 0.8182201 NA NA 0.04902558 0.1772599 NA 0.8845973 NA 0.1131427 NA FALSE NA 0 0.195 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:103435913 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 intron_variant 0.072647 0.20232 0.07788 0.061011 0.5714901 0.0443366 2.178537e-21 FALSE 3.38699e-05 ENSE00001468233_004 ENSE00001468233 004 11 103306626 103306795 + 45 90 35 A G 103306641 2349 16 AGTATCATATACACAGACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435912 103435913 103435913 upstr_intron -30 -0.6444444 AGTATCATATACACAGACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant 58 68 0.9453724 0.9474496 0.946411 464 428 0.9991097 1 0.9995548 NA NA 0.9509744 0.8182201 NA NA 0.04813527 0.1817799 NA 0.8845973 NA 0.1149576 NA FALSE NA 0 0.195 NA NA NA DYNC2H1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYNC2H1 NA NA NA ENSG00000187240 ENSE00003666819 intron_variant 0.283083 0.19973 0.11074 0.061011 0.5769486 0.0443366 2.178537e-21 FALSE 4.23374e-06 ENSE00001468233_005 ENSE00001468233 005 11 103306626 103306795 + 45 90 35 C A 103306643 2350 18 AGTATCATATACACAAAATTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435914 103435915 103435915 upstr_intron -28 -0.6 AGTATCATATACACAAAATTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 454 921 0.9955069 0.9998282 0.9976675 NA NA 0.9509744 0.8182201 NA NA 0.04453244 0.1816081 NA 0.8845973 NA 0.1130703 NA FALSE NA 0 -1.061 . intron_variant MODIFIER DYNC2H1 HGNC 2962 ENST00000398093 85/89 1 NA ACT C,A 8.286e-06 11:103435915 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 intron_variant 0.224537 0.17384 0.02738 0.061011 0.5286113 0.0443366 2.178537e-21 FALSE 8.42559e-06 ENSE00001468233_007 ENSE00001468233 007 11 103306626 103306795 + 45 90 35 T C 103306666 2352 41 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATCGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435937 103435938 103435938 upstr_intron -5 -0.08888889 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATCGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 569 220 0.9983461 1 0.999173 NA NA 0.9509744 0.8182201 NA NA 0.04737164 0.1817799 NA 0.8845973 NA 0.1145758 NA FALSE NA 0.397 0.924 . splice_region_variant&intron_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 85/89 1 NA TTG T,C 8.283e-06 11:103435938 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 splice_region_variant 1.083725 0.40382 0.21736 0.061011 0.7699893 0.269328 2.178537e-21 FALSE 4.08797e-06 ENSE00001468233_008 ENSE00001468233 008 11 103306626 103306795 + 45 90 35 C T 103306679 2353 54 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTTGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435950 103435951 103435951 exon 9 0.1 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTTGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 278 542 0.9983602 0.9931548 0.9957575 NA NA 0.9509744 0.8182201 NA NA 0.04738574 0.1749346 NA 0.8845973 NA 0.1111602 NA FALSE NA 0.001 -0.578 . synonymous_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 86/90 COSM1603965&COSM1603964 1 NA TCG C,T 4.968e-05 11:103435951 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 synonymous_variant 2.54586 0.57956 0.0398 0.638212 0.7339919 0 2.178537e-21 FALSE 4.07884e-05 ENSE00001468233_009 ENSE00001468233 009 11 103306626 103306795 + 45 90 35 G A 103306680 2354 55 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCACATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435951 103435952 103435952 exon 10 0.1111111 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCACATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 230 450 0.9896617 0.9874031 0.9885324 NA NA 0.9509744 0.8182201 NA NA 0.03868731 0.1691829 NA 0.8845973 NA 0.1039351 NA FALSE NA 0.001 1.311 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 rs200636241 1 benign(0) A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGC G,A 4.14e-05 11:103435952 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 1.855551 0.49715 0.00895 0.638212 0.7287361 0 2.178537e-21 FALSE 5.30357e-05 ENSE00001468233_010 ENSE00001468233 010 11 103306626 103306795 + 45 90 35 C T 103306681 2355 56 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGTATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435952 103435953 103435953 exon 11 0.1222222 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGTATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 1014 121 0.9958941 1 0.9979471 NA NA 0.9509744 0.8182201 NA NA 0.04491973 0.1817799 NA 0.8845973 NA 0.1133498 NA FALSE NA 0.005 1.027 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 benign(0.003) NA GCA C,T 8.279e-06 11:103435953 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 3.479621 0.6828 0.0928 0.638212 0.9928209 0 2.178537e-21 FALSE 8.15574e-06 ENSE00001468233_011 ENSE00001468233 011 11 103306626 103306795 + 45 90 35 C G 103306691 2356 66 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGGAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435962 103435963 103435963 exon 21 0.2333333 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGGAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 2407 1771 0.9947387 0.9997998 0.9972693 NA NA 0.9509744 0.8182201 NA NA 0.04376428 0.1815797 NA 0.8845973 NA 0.112672 NA FALSE NA 1 0.721 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 benign(0.005) NA GCA C,G 8.278e-06 11:103435963 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 3.356908 0.97408 0.79261 0.638212 0.9841242 0 2.178537e-21 FALSE 1.22239e-05 ENSE00001468233_012 ENSE00001468233 012 11 103306626 103306795 + 45 90 35 A G 103306693 2357 68 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAGGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435964 103435965 103435965 exon 23 0.2555556 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAGGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 150 583 1 0.998151 0.9990755 NA NA 0.9509744 0.8182201 NA NA 0.04902558 0.1799309 NA 0.8845973 NA 0.1144782 NA FALSE NA 1 3.278 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 rs368043505 1 benign(0.002) NA G:0 G:0.0001 AAG A,G 5.795e-05 11:103435965 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 1.969158 0.96768 0.8006 0.638212 0.9651245 0 2.178537e-21 FALSE 6.11058e-05 ENSE00001468233_013 ENSE00001468233 013 11 103306626 103306795 + 45 90 35 G A 103306694 2358 69 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAATGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435965 103435966 103435966 exon 24 0.2666667 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAATGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 372 242 0.9988884 0.9927423 0.9958154 NA NA 0.9509744 0.8182201 NA NA 0.04791403 0.1745221 NA 0.8845973 NA 0.1112181 NA FALSE NA 0.98 0.096 . synonymous_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 NA AGT G,A 8.278e-06 11:103435966 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 synonymous_variant 1.734671 0.9568 0.56684 0.638212 0.5366603 0 2.178537e-21 FALSE 4.07382e-06 ENSE00001468233_014 ENSE00001468233 014 11 103306626 103306795 + 45 90 35 A G 103306706 2359 81 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCGGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435977 103435978 103435978 exon 36 0.4 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCGGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 1169 837 0.9998689 0.9146834 0.9572761 NA NA 0.9509744 0.8182201 NA NA 0.04889447 0.09646328 NA 0.8845973 NA 0.07267887 NA FALSE NA 0.993 0.451 . synonymous_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 NA CAG A,G 8.277e-06 11:103435978 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 synonymous_variant 1.006803 0.93527 0.55226 0.638212 0.648306 0 2.178537e-21 FALSE 4.07259e-06 ENSE00001468233_015 ENSE00001468233 015 11 103306626 103306795 + 45 90 35 C T 103306713 2360 88 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATTCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435984 103435985 103435985 exon 43 0.4777778 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATTCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 63 474 1 0.9984598 0.9992299 NA NA 0.9509744 0.8182201 NA NA 0.04902558 0.1802396 NA 0.8845973 NA 0.1146326 NA FALSE NA 1 5.914 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 probably_damaging(0.931) NA TCC C,T 8.277e-06 11:103435985 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 6.709989 0.98646 0.92301 0.638212 0.9984938 0 2.178537e-21 FALSE 1.22164e-05 ENSE00001468233_016 ENSE00001468233 016 11 103306626 103306795 + 45 90 35 C G 103306714 2361 89 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCGCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435985 103435986 103435986 exon 44 0.4888889 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCGCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 56 399 1 0.9980693 0.9990346 NA NA 0.9509744 0.8182201 NA NA 0.04902558 0.1798492 NA 0.8845973 NA 0.1144374 NA FALSE NA 1 5.914 NA NA NA DYNC2H1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:103435986 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 6.704294 0.98683 0.94206 0.638212 0.9981431 0 2.178537e-21 FALSE 8.14505e-06 ENSE00001468233_018 ENSE00001468233 018 11 103306626 103306795 + 45 90 35 A G 103306720 2363 95 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACGATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103435991 103435992 103435992 exon -41 0.5555556 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACGATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 893 149 0.9993067 0.985732 0.9925193 NA NA 0.9509744 0.8182201 NA NA 0.04833226 0.1675119 NA 0.8845973 NA 0.1079221 NA FALSE NA 1 7.033 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 rs1793493 1 benign(0.086) NA CAA A,G 8.278e-06 11:103435992 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 1.84749 0.97473 0.94175 0.638212 0.944528 0 2.178537e-21 FALSE 4.07186e-06 ENSE00001468233_020 ENSE00001468233 020 11 103306626 103306795 + 45 90 35 T C 103306733 2365 108 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGCCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103436004 103436005 103436005 exon -28 0.7 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGCCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 71 2661 1 0.9980522 0.9990261 NA NA 0.9509744 0.8182201 NA NA 0.04902558 0.1798321 NA 0.8845973 NA 0.1144288 NA FALSE NA 0.036 -1.828 . synonymous_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 NA GTC T,C 8.278e-06 11:103436005 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 synonymous_variant 0.305634 0.77596 0.03672 0.693126 0.6251737 0 2.178537e-21 FALSE 4.07392e-06 ENSE00001468233_021 ENSE00001468233 021 11 103306626 103306795 + 45 90 35 T C 103306738 2366 113 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGCTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103436009 103436010 103436010 exon -23 0.7555556 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGCTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 770 1381 0.9939736 0.9978145 0.995894 NA NA 0.9509744 0.8182201 NA NA 0.04299916 0.1795943 NA 0.8845973 NA 0.1112967 NA FALSE NA 1 6.079 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 benign(0.081) NA GTT T,C 1.656e-05 11:103436010 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 1.900821 0.89755 0.87528 0.693126 0.9733219 0 2.178537e-21 FALSE 1.2219e-05 ENSE00001468233_023 ENSE00001468233 023 11 103306626 103306795 + 45 90 35 G A 103306744 2368 119 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCATGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103436015 103436016 103436016 exon -17 0.8222222 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCATGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 364 3471 0.995763 0.9521267 0.9739448 NA NA 0.9509744 0.8182201 NA NA 0.04478855 0.1339065 NA 0.8845973 NA 0.08934754 NA FALSE NA 1 7.422 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 probably_damaging(0.988) NA CGT G,A 3.311e-05 11:103436016 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 7.2807 0.98601 0.95214 0.693126 0.9984508 0 2.178537e-21 FALSE 2.85302e-05 ENSE00001468233_024 ENSE00001468233 024 11 103306626 103306795 + 45 90 35 C T 103306747 2369 122 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGTCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103436018 103436019 103436019 exon -14 0.8555556 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGTCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 1149 221 0.9998666 0.998566 0.9992163 NA NA 0.9509744 0.8182201 NA NA 0.04889219 0.1803459 NA 0.8845973 NA 0.1146191 NA FALSE NA 1 5.914 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 86/90 1 benign(0.079) NA GCC C,T 8.278e-06 11:103436019 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 missense_variant 3.188631 0.98515 0.92054 0.693126 0.9897055 0 2.178537e-21 FALSE 8.15182e-06 ENSE00001468233_025 ENSE00001468233 025 11 103306626 103306795 + 45 90 35 T C 103306762 2370 137 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGCATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103436033 103436034 103436034 downstr_intron 2 1.058824 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGCATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 206 89 0 0 0 NA NA 0.9509744 0.8182201 NA NA -0.9509744 -0.8182201 NA 0.8845973 NA -0.8845973 NA TRUE NA 1 6.079 . splice_donor_variant HIGH DYNC2H1 HGNC 2962 ENST00000398093 86/89 1 NA HC GTA T,C 8.279e-06 11:103436034 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 splice_donor_variant 3.958766 0.98354 0.9186 0.061011 0.9917969 0.979146 2.178537e-21 FALSE 8.17508e-06 ENSE00001468233_026 ENSE00001468233 026 11 103306626 103306795 + 45 90 35 G C 103306765 2371 140 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATCCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103436036 103436037 103436037 downstr_intron 5 1.147059 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATCCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 381 496 0.9983684 0.9982939 0.9983312 NA NA 0.9509744 0.8182201 NA NA 0.04739401 0.1800738 NA 0.8845973 NA 0.1137339 NA FALSE NA 0.961 1.764 . splice_region_variant&intron_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 86/89 rs545516611 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TGC G,C 8.279e-06 11:103436037 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 splice_region_variant 0.06962 0.48107 0.64473 0.061011 0.3911581 0.327175 2.178537e-21 FALSE NA ENSE00001468233_027 ENSE00001468233 027 11 103306626 103306795 + 45 90 35 C T 103306767 2372 142 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCTTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 103436038 103436039 103436039 downstr_intron 7 1.205882 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCTTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 1096 1254 1 0.9991415 0.9995707 NA NA 0.9509744 0.8182201 NA NA 0.04902558 0.1809213 NA 0.8845973 NA 0.1149735 NA FALSE NA 0 -1.843 . splice_region_variant&intron_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 86/89 rs372189534&COSM2108836&COSM2108835 1 NA T:0 T:0.0001 CCT C,T 6.624e-05 11:103436039 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 splice_region_variant 0.334485 0.15156 0.01089 0.061011 0.3894686 0.257331 2.178537e-21 FALSE 5.73085e-05 ENSE00001468233_028 ENSE00001468233 028 11 103306626 103306795 + 45 90 35 T C 103306776 2373 151 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATCTACTAAGTGGGTTGTCTGA 103435897 103436067 103436047 103436048 103436048 downstr_intron 16 1.470588 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATCTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 180 276 0.9896224 0.9991684 0.9943954 NA NA 0.9509744 0.8182201 NA NA 0.03864799 0.1809482 NA 0.8845973 NA 0.1097981 NA FALSE NA 0 0.044 . intron_variant MODIFIER DYNC2H1 HGNC 2962 ENST00000398093 86/89 1 NA TTT T,C 8.281e-06 11:103436048 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 intron_variant -0.052297 0.20083 0.05049 0.061011 0.3848132 0.0931705 2.178537e-21 FALSE 4.1063e-06 ENSE00001468233_029 ENSE00001468233 029 11 103306626 103306795 + 45 90 35 T C 103306777 2374 152 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTCACTAAGTGGGTTGTCTGA 103435897 103436067 103436048 103436049 103436049 downstr_intron 17 1.5 AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTCACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA mutant NA NA NA NA NA 227 1891 1 1 1 NA NA 0.9509744 0.8182201 NA NA 0.04902558 0.1817799 NA 0.8845973 NA 0.1154027 NA FALSE NA 0 -0.293 . intron_variant MODIFIER DYNC2H1 HGNC 2962 ENST00000398093 86/89 1 NA TTA T,C 3.312e-05 11:103436049 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00003666819 intron_variant 0.004319 0.17385 0.03219 0.061011 0.3056293 0.0931705 2.178537e-21 FALSE 2.05359e-05 ENSE00001468233_BRK ENSE00001468233 BRK 11 103306626 103306795 + 45 90 35 A,G; T,T NA NA NA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCTTTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGCCATGCCTAAATTATTTACTAAGTGGGTTGTCTGA 103435897 103436067 NA NA NA NA NA NA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCTTTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGCCATGCCTAAATTATTTACTAAGTGGGTTGTCTGA AGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGA control 13 18 0 0 0 1206 279 0.110314 0.002301652 0.05630784 NA NA 0.9509744 0.8182201 NA NA -0.8406604 -0.8159185 NA 0.8845973 NA -0.8282894 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003666819 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001468448_000 ENSE00001468448 000 13 111098113 111098282 + 63 54 53 NA NA NA NA NA TGCAGTCCCTTTTTGGAGTTATACATCAGAGACAAAAATTAAAAGCAAATATCTTTCTTGCAGGGAAGCCGAGGCCTGGATGGCTATCAAGGGCCTGATGGACCCCGGGGACCCAAGGTGAGCCCGTTTCTCATGTCTTTGCCACTTATGGTGTCTCGCCCACCCTGGCT 110445765 110445935 NA NA NA NA NA NA TGCAGTCCCTTTTTGGAGTTATACATCAGAGACAAAAATTAAAAGCAAATATCTTTCTTGCAGGGAAGCCGAGGCCTGGATGGCTATCAAGGGCCTGATGGACCCCGGGGACCCAAGGTGAGCCCGTTTCTCATGTCTTTGCCACTTATGGTGTCTCGCCCACCCTGGCT TGCAGTCCCTTTTTGGAGTTATACATCAGAGACAAAAATTAAAAGCAAATATCTTTCTTGCAGGGAAGCCGAGGCCTGGATGGCTATCAAGGGCCTGATGGACCCCGGGGACCCAAGGTGAGCCCGTTTCTCATGTCTTTGCCACTTATGGTGTCTCGCCCACCCTGGCT natural 43 82 0.9978847 0.9963187 0.9971017 1536 1355 0.9909285 0.9629854 0.976957 0.9978847 0.9963187 0.9909285 0.9629854 0 0 0 0 0.9971017 0.976957 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00001468448 NA NA NA NA NA NA NA NA NA NA ENSE00001468448_BRK ENSE00001468448 BRK 13 111098113 111098282 + 63 54 53 A,G; T,T NA NA NA TGCAGTCCCTTTTTGGAGTTATACATCAGAGACAAAAATTAAAAGCAAATATCTTTCTTGCTTGGAAGCCGAGGCCTGGATGGCTATCAAGGGCCTGATGGACCCCGGGGACCCAAGCCGAGCCCGTTTCTCATGTCTTTGCCACTTATGGTGTCTCGCCCACCCTGGCT 110445765 110445935 NA NA NA NA NA NA TGCAGTCCCTTTTTGGAGTTATACATCAGAGACAAAAATTAAAAGCAAATATCTTTCTTGCTTGGAAGCCGAGGCCTGGATGGCTATCAAGGGCCTGATGGACCCCGGGGACCCAAGCCGAGCCCGTTTCTCATGTCTTTGCCACTTATGGTGTCTCGCCCACCCTGGCT TGCAGTCCCTTTTTGGAGTTATACATCAGAGACAAAAATTAAAAGCAAATATCTTTCTTGCAGGGAAGCCGAGGCCTGGATGGCTATCAAGGGCCTGATGGACCCCGGGGACCCAAGGTGAGCCCGTTTCTCATGTCTTTGCCACTTATGGTGTCTCGCCCACCCTGGCT control 106 36 0 0 0 NA NA NA NA NA 0.9978847 0.9963187 0.9909285 0.9629854 -0.9978847 -0.9963187 NA NA 0.9971017 0.976957 -0.9971017 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001468448 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001468451_000 ENSE00001468451 000 13 111090277 111090446 + 72 36 62 NA NA NA NA NA AACCCTGATTGATTTTTACCCATTACCATCCTCAAATTAATAAGCGTTTCTTATTTTTCATATTCTTCACAGGGTGAAAAAGGCAGTGAGGGGGAACCAGGAATAAGAGTAAGTCGAGTAATGAGCATGCCCCCTCCCCTGTGGCTCCTGGGCTGTCGGCGCTCTGCCAG 110437929 110438099 NA NA NA NA NA NA AACCCTGATTGATTTTTACCCATTACCATCCTCAAATTAATAAGCGTTTCTTATTTTTCATATTCTTCACAGGGTGAAAAAGGCAGTGAGGGGGAACCAGGAATAAGAGTAAGTCGAGTAATGAGCATGCCCCCTCCCCTGTGGCTCCTGGGCTGTCGGCGCTCTGCCAG AACCCTGATTGATTTTTACCCATTACCATCCTCAAATTAATAAGCGTTTCTTATTTTTCATATTCTTCACAGGGTGAAAAAGGCAGTGAGGGGGAACCAGGAATAAGAGTAAGTCGAGTAATGAGCATGCCCCCTCCCCTGTGGCTCCTGGGCTGTCGGCGCTCTGCCAG natural 15 21 0.85 0.85 0.85 204 569 0.9363768 0.940827 0.9386019 0.85 0.85 0.9363768 0.940827 0 0 0 0 0.85 0.9386019 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001468451 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001468455_000 ENSE00001468455 000 13 111084600 111084769 + 72 36 62 NA NA NA NA NA AGCTTTCCACCAGATGTTATCTGGGTCCTGGGGTAAAGAAAACCATTTACACATTTCTTTGTATTTGTACAGGGACCACCTGGACCCCCTGGACCAAAAGGACAGCAAGTAAGTTGGTTTTGGGGGGTGAGGATGAGGGAAGGGGGTACTTAGGTGTTTGTGGGTTTGTT 110432252 110432422 NA NA NA NA NA NA AGCTTTCCACCAGATGTTATCTGGGTCCTGGGGTAAAGAAAACCATTTACACATTTCTTTGTATTTGTACAGGGACCACCTGGACCCCCTGGACCAAAAGGACAGCAAGTAAGTTGGTTTTGGGGGGTGAGGATGAGGGAAGGGGGTACTTAGGTGTTTGTGGGTTTGTT AGCTTTCCACCAGATGTTATCTGGGTCCTGGGGTAAAGAAAACCATTTACACATTTCTTTGTATTTGTACAGGGACCACCTGGACCCCCTGGACCAAAAGGACAGCAAGTAAGTTGGTTTTGGGGGGTGAGGATGAGGGAAGGGGGTACTTAGGTGTTTGTGGGTTTGTT natural 160 120 0.9974322 0.9950234 0.9962278 215 167 0.9148134 0.9618396 0.9383265 0.9974322 0.9950234 0.9148134 0.9618396 0 0 0 0 0.9962278 0.9383265 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001468455 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001468455_BRK ENSE00001468455 BRK 13 111084600 111084769 + 72 36 62 A,G; T,T NA NA NA AGCTTTCCACCAGATGTTATCTGGGTCCTGGGGTAAAGAAAACCATTTACACATTTCTTTGTATTTGTACTTGGACCACCTGGACCCCCTGGACCAAAAGGACAGCAACCAAGTTGGTTTTGGGGGGTGAGGATGAGGGAAGGGGGTACTTAGGTGTTTGTGGGTTTGTT 110432252 110432422 NA NA NA NA NA NA AGCTTTCCACCAGATGTTATCTGGGTCCTGGGGTAAAGAAAACCATTTACACATTTCTTTGTATTTGTACTTGGACCACCTGGACCCCCTGGACCAAAAGGACAGCAACCAAGTTGGTTTTGGGGGGTGAGGATGAGGGAAGGGGGTACTTAGGTGTTTGTGGGTTTGTT AGCTTTCCACCAGATGTTATCTGGGTCCTGGGGTAAAGAAAACCATTTACACATTTCTTTGTATTTGTACAGGGACCACCTGGACCCCCTGGACCAAAAGGACAGCAAGTAAGTTGGTTTTGGGGGGTGAGGATGAGGGAAGGGGGTACTTAGGTGTTTGTGGGTTTGTT control 261 413 0.01505561 0.00473107 0.009893338 576 402 0 0.001595305 0.0007976527 0.9974322 0.9950234 0.9148134 0.9618396 -0.9823766 -0.9902923 -0.9148134 -0.9602443 0.9962278 0.9383265 -0.9863345 -0.9375289 0.04880563 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001468455 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001469378_000 ENSE00001469378 000 11 84822663 84822832 - 42 75 53 NA NA NA NA NA ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 NA NA NA NA NA NA TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT natural 39 45 0.9833618 0.9472911 0.9653264 9301 6322 0.8968457 0.9893957 0.9431207 0.9833618 0.9472911 0.8968457 0.9893957 0 0 0 0 0.9653264 0.9431207 0 0 0 FALSE FALSE NA NA NA NA NA DLG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DLG2 NA NA NA ENSG00000150672 ENSE00001469378 NA NA NA NA NA NA NA 0.6735454 FALSE NA ENSE00001469378_001 ENSE00001469378 001 11 84822663 84822832 - 42 75 53 T G 84822678 2248 155 ATTTATCCTTCAATCGGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111633 85111634 85111634 downstr_intron 27 1.658537 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCCGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 205 641 1 0.9969177 0.9984589 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.1031543 0.007522041 0.9653264 0.9431207 NA 0.05533819 NA FALSE NA 0 0.299 . intron_variant MODIFIER DLG2 HGNC 2901 ENST00000527088 2/2 1 NA CTG T,G 4.491e-05 11:85111634 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 intron_variant 0.082198 0.25073 0.11273 0.053691 0.5718082 0.0448725 0.6735454 FALSE 3.55169e-05 ENSE00001469378_002 ENSE00001469378 002 11 84822663 84822832 - 42 75 53 G T 84822689 2249 144 ATTTATCCTTCAATCTGCTAATCTTGTAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111644 85111645 85111645 downstr_intron 16 1.390244 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTACAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 1400 1497 0.6820028 0.5299433 0.605973 0.9833618 0.9472911 0.8968457 0.9893957 NA NA -0.2148429 -0.4594524 0.9653264 0.9431207 NA -0.3371477 NA FALSE NA 0.003 0.058 . intron_variant MODIFIER DLG2 HGNC 2901 ENST00000527088 2/2 1 NA GGA G,T 8.795e-06 11:85111645 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 intron_variant -0.345978 0.15003 0.04451 0.053691 0.4599771 0.0448725 0.6735454 FALSE NA ENSE00001469378_003 ENSE00001469378 003 11 84822663 84822832 - 42 75 53 C G 84822704 2250 129 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTAGAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111659 85111660 85111660 downstr_intron 1 1.02439 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTCTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant 28 82 0 0.06492286 0.03246143 113 1601 0.07526721 0.03398925 0.05462823 0.9833618 0.9472911 0.8968457 0.9893957 -0.9833618 -0.8823682 -0.8215785 -0.9554064 0.9653264 0.9431207 -0.932865 -0.8884924 0.04437257 TRUE TRUE 1 4.745 . splice_donor_variant HIGH DLG2 HGNC 2901 ENST00000527088 2/2 1 NA HC ACA C,G 8.656e-06 11:85111660 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 splice_donor_variant 5.011984 0.98406 0.94072 0.053691 0.992704 0.964352 0.6735454 FALSE NA ENSE00001469378_004 ENSE00001469378 004 11 84822663 84822832 - 42 75 53 G A 84822717 2251 116 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGAACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111672 85111673 85111673 exon -13 0.84 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTTCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 586 565 0.8894063 0.9987099 0.9440581 0.9833618 0.9472911 0.8968457 0.9893957 NA NA -0.007439407 0.009314176 0.9653264 0.9431207 NA 0.0009373848 NA FALSE NA 0.659 -0.464 . synonymous_variant LOW DLG2 HGNC 2901 ENST00000527088 2/3 1 NA GGA G,A 8.576e-06 11:85111673 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 synonymous_variant 1.103283 0.94826 0.28369 0.553676 0.7077257 0 0.6735454 FALSE NA ENSE00001469378_005 ENSE00001469378 005 11 84822663 84822832 - 42 75 53 G A 84822722 2252 111 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGACATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111677 85111678 85111678 exon -18 0.7733333 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGTCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 442 342 0.9766216 0.9471542 0.9618879 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.07977592 -0.04224151 0.9653264 0.9431207 NA 0.0187672 NA FALSE NA 1 6.038 . missense_variant MODERATE DLG2 HGNC 2901 ENST00000527088 2/3 rs529154147 1 tolerated_low_confidence(0.16) probably_damaging(0.968) A:0.0006 A:0 A:0 NA A:0.001 A:0 A:0.002 GGC G,A 5.142e-05 11:85111678 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 missense_variant 2.978661 0.98364 0.94965 0.553676 0.9984028 0 0.6735454 FALSE NA ENSE00001469378_007 ENSE00001469378 007 11 84822663 84822832 - 42 75 53 A T 84822728 2254 105 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCTAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111683 85111684 85111684 exon -24 0.6933333 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTAGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 235 989 0.8011093 0.7310601 0.7660847 0.9833618 0.9472911 0.8968457 0.9893957 NA NA -0.09573633 -0.2583356 0.9653264 0.9431207 NA -0.1770359 NA FALSE NA 1 5.706 . missense_variant MODERATE DLG2 HGNC 2901 ENST00000527088 2/3 rs568789379 1 tolerated_low_confidence(0.16) probably_damaging(0.969) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CAA A,T 2.569e-05 11:85111684 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 missense_variant 1.98174 0.9808 0.94621 0.553676 0.9931603 0 0.6735454 FALSE 3.94602e-05 ENSE00001469378_008 ENSE00001469378 008 11 84822663 84822832 - 42 75 53 G C 84822734 2255 99 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGCGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111689 85111690 85111690 exon -30 0.6133333 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCGCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 182 1011 1 0.9255978 0.9627989 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.1031543 -0.06379786 0.9653264 0.9431207 NA 0.01967824 NA FALSE NA 1 6.038 . missense_variant MODERATE DLG2 HGNC 2901 ENST00000527088 2/3 rs201189173 1 tolerated_low_confidence(0.23) probably_damaging(0.956) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0007 GGG G,C 0.0004281 11:85111690 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 missense_variant 1.089158 0.98434 0.95943 0.553676 0.9951783 0 0.6735454 FALSE 0.000433583 ENSE00001469378_009 ENSE00001469378 009 11 84822663 84822832 - 42 75 53 C A 84822743 2256 90 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCAATGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111698 85111699 85111699 exon 37 0.4933333 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCATTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 362 504 0.9998863 0.9996861 0.9997862 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.1030406 0.0102904 0.9653264 0.9431207 NA 0.0566655 NA FALSE NA 1 3.193 . missense_variant MODERATE DLG2 HGNC 2901 ENST00000527088 2/3 1 tolerated(1) benign(0.001) NA ACT C,A 8.611e-06 11:85111699 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 missense_variant 2.407452 0.97426 0.88402 0.553676 0.9585687 0 0.6735454 FALSE NA ENSE00001469378_010 ENSE00001469378 010 11 84822663 84822832 - 42 75 53 C A 84822748 2257 85 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAAAAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111703 85111704 85111704 exon 32 0.4266667 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTTTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 779 203 0.9952447 1 0.9976223 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.09839903 0.01060432 0.9653264 0.9431207 NA 0.05450168 NA FALSE NA 1 4.745 . missense_variant MODERATE DLG2 HGNC 2901 ENST00000527088 2/3 rs139399525 1 deleterious(0.05) probably_damaging(0.962) NA A:0.0003 A:0 ACA C,A 8.626e-06 11:85111704 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 missense_variant 3.813057 0.98382 0.93722 0.553676 0.9904761 0 0.6735454 FALSE NA ENSE00001469378_011 ENSE00001469378 011 11 84822663 84822832 - 42 75 53 T C 84822751 2258 82 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAACTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111706 85111707 85111707 exon 29 0.3866667 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAGTTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 1001 75 0.9948818 0.9973682 0.996125 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.09803618 0.007972486 0.9653264 0.9431207 NA 0.05300433 NA FALSE NA 1 4.871 . missense_variant MODERATE DLG2 HGNC 2901 ENST00000527088 2/3 rs551495508 1 tolerated_low_confidence(0.74) benign(0.037) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATT T,C 1.727e-05 11:85111707 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 missense_variant 0.622154 0.98012 0.91656 0.553676 0.9927761 0 0.6735454 FALSE 1.17491e-05 ENSE00001469378_012 ENSE00001469378 012 11 84822663 84822832 - 42 75 53 C A 84822758 2259 75 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGATGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111713 85111714 85111714 exon 22 0.2933333 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCATCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 2371 488 0.9752875 0.8372859 0.9062867 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.07844189 -0.1521098 0.9653264 0.9431207 NA -0.03683395 NA FALSE NA 0.994 0.246 rs144805693 missense_variant MODERATE DLG2 HGNC 2901 ENST00000527088 2/3 rs144805693 1 tolerated_low_confidence(0.86) benign(0.002) NA A:0.0003 A:0 GCT C,A 8.698e-06 11:85111714 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 missense_variant 1.436136 0.96549 0.61346 0.553676 0.9935227 0 0.6735454 FALSE NA ENSE00001469378_013 ENSE00001469378 013 11 84822663 84822832 - 42 75 53 G A 84822762 2260 71 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGACATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111717 85111718 85111718 exon 18 0.24 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGTCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant 12 18 0.9968422 1 0.9984211 NA NA NA NA NA 0.9833618 0.9472911 0.8968457 0.9893957 0.01348047 0.0527089 NA NA 0.9653264 0.9431207 0.03309468 NA NA NA FALSE 1 0.65 . synonymous_variant LOW DLG2 HGNC 2901 ENST00000527088 2/3 1 NA GGC G,A 1.745e-05 11:85111718 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 synonymous_variant 0.763076 0.94736 0.65315 0.553676 0.4742853 0 0.6735454 FALSE NA ENSE00001469378_014 ENSE00001469378 014 11 84822663 84822832 - 42 75 53 G T 84822773 2261 60 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTTGTTTTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111728 85111729 85111729 exon 7 0.09333333 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACAAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 471 637 0.9985936 0.9960776 0.9973356 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.1017479 0.006681891 0.9653264 0.9431207 NA 0.05421489 NA FALSE NA 1 4.417 . missense_variant MODERATE DLG2 HGNC 2901 ENST00000527088 2/3 1 tolerated_low_confidence(0.54) benign(0.018) NA TGG G,T 9.034e-06 11:85111729 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 missense_variant 1.523119 0.98405 0.93757 0.553676 0.9886691 0 0.6735454 FALSE 4.37911e-05 ENSE00001469378_015 ENSE00001469378 015 11 84822663 84822832 - 42 75 53 T C 84822777 2262 56 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTCTGCTGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111732 85111733 85111733 exon 3 0.04 TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAGAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 880 1768 0.9656557 0.9143285 0.9399921 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.06881002 -0.07506722 0.9653264 0.9431207 NA -0.003128601 NA FALSE NA 1 0.72 . splice_region_variant&synonymous_variant LOW DLG2 HGNC 2901 ENST00000527088 2/3 rs373639792 1 NA C:0.0003 C:0 TTT T,C 9.282e-06 11:85111733 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 splice_region_variant 1.148416 0.95618 0.56888 0.553676 0.7736721 0 0.6735454 FALSE NA ENSE00001469378_016 ENSE00001469378 016 11 84822663 84822832 - 42 75 53 T G 84822798 2263 35 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATGATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111753 85111754 85111754 upstr_intron -19 -0.3396226 TACATACTGGCCCATAATAAATAGAATATAATATCATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant NA NA NA NA NA 1037 801 0.9941994 0.942194 0.9681967 0.9833618 0.9472911 0.8968457 0.9893957 NA NA 0.09735373 -0.04720164 0.9653264 0.9431207 NA 0.02507605 NA FALSE NA 0 -3.223 rs601375 intron_variant MODIFIER DLG2 HGNC 2901 ENST00000527088 1/2 rs601375 1 T:0.2582 G:0.7988 G:0.6441 NA G:0.9315 G:0.6074 G:0.6769 G:0.8272 G:0.6686 TTA G,G 0.64 11:85111754 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 intron_variant -0.359354 0.03948 0.00185 0.053691 0.4018031 0.0754154 0.6735454 FALSE 0.643198 ENSE00001469378_017 ENSE00001469378 017 11 84822663 84822832 - 42 75 53 T G 84822808 2264 25 ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTACAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGCTGCAAATAAGTAAAAATTATATTATATGCTATTTATTATGGGCCAGTATGTA 85111618 85111788 85111763 85111764 85111764 upstr_intron -29 -0.5283019 TACATACTGGCCCATAATAAATAGCATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT mutant 11 63 1 0.9841727 0.9920863 985 1103 0.999749 0.9998566 0.9998028 0.9833618 0.9472911 0.8968457 0.9893957 0.01663822 0.03688156 0.1029034 0.01046091 0.9653264 0.9431207 0.02675989 0.05668215 0.02992226 FALSE FALSE 0.103 1.457 rs349058 intron_variant MODIFIER DLG2 HGNC 2901 ENST00000527088 1/2 rs349058 1 G:0.0250 G:0.003 G:0.0821 NA G:0.0119 G:0.0308 G:0.0215 G:0.0079 G:0.0303 TTC T,G 0.03 11:85111764 DLG2 HGNC Symbol protein_coding 2172910 ENSG00000150672 ENSE00001469378 intron_variant -0.038316 0.18753 0.46231 0.053691 0.6139087 0.0443366 0.6735454 FALSE 0.0369282 ENSE00001469378_BRK ENSE00001469378 BRK 11 84822663 84822832 - 42 75 53 A,G; T,T NA NA NA ATTTATCCTTCAATCTGCTAATCTTGGAATAATCAAACTTGGAGTACAGTGGTGGACAGGCATCCAAGCAGGGGCTTCCACTGAACAATTCTGGGCTGGGCATCTGCCTTGGTTTTGAAGCAAATAAGTAAAAATTATATTATATTCTATTTATTATGGGCCAGTATGTA 85111618 85111788 NA NA NA NA NA NA TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCTTCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTCCAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT TACATACTGGCCCATAATAAATAGAATATAATATAATTTTTACTTATTTGCAGCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCAGTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTGTAAGTTTGATTATTCCAAGATTAGCAGATTGAAGGATAAAT control 27 56 0 0 0 3774 219 0.01182155 0.0601102 0.03596587 0.9833618 0.9472911 0.8968457 0.9893957 -0.9833618 -0.9472911 -0.8850241 -0.9292855 0.9653264 0.9431207 -0.9653264 -0.9071548 0.05817164 TRUE TRUE NA NA NA NA NA DLG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DLG2 NA NA NA ENSG00000150672 ENSE00001469378 NA NA NA NA NA NA NA 0.6735454 FALSE NA ENSE00001471865_000 ENSE00001471865 000 2 101643800 101643969 - 45 69 56 NA NA NA NA NA ACCCCTGGGGGTGCAGGCCTAGATTTCACGCCATTGCTGTTTATTCTTTCCTCAAGCTTCGAGTCGTTATCCCGGAAGTCTCAATTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGTACGCAGCTCTGGGAAGATGAGGGGTTCCAGGCCCTGAGCTGGC 101027337 101027507 NA NA NA NA NA NA ACCCCTGGGGGTGCAGGCCTAGATTTCACGCCATTGCTGTTTATTCTTTCCTCAAGCTTCGAGTCGTTATCCCGGAAGTCTCAATTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGTACGCAGCTCTGGGAAGATGAGGGGTTCCAGGCCCTGAGCTGGC ACCCCTGGGGGTGCAGGCCTAGATTTCACGCCATTGCTGTTTATTCTTTCCTCAAGCTTCGAGTCGTTATCCCGGAAGTCTCAATTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGTACGCAGCTCTGGGAAGATGAGGGGTTCCAGGCCCTGAGCTGGC natural NA NA NA NA NA 789 935 0.992628 0.996803 0.9947155 NA NA 0.992628 0.996803 NA NA 0 0 NA 0.9947155 NA 0 NA FALSE NA NA NA NA NA NA TBC1D8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBC1D8 NA NA NA ENSG00000204634 ENSE00001471865 NA NA NA NA NA NA NA 5.261327e-07 FALSE NA ENSE00001471865_024 ENSE00001471865 024 2 101643800 101643969 - 45 69 56 G A 101643941 2355 29 ACCCCTGGGGGTGCAGGCCTAGATTTCATGCCATTGCTGTTTATTCTTTCCTCAAGCTTCGAGTCGTTATCCCGGAAGTCTCAATTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGTACGCAGCTCTGGGAAGATGAGGGGTTCCAGGCCCTGAGCTGGC 101027337 101027507 101027478 101027479 101027479 upstr_intron -28 -0.4821429 ACCCCTGGGGGTGCAGGCCTAGATTTCATGCCATTGCTGTTTATTCTTTCCTCAAGCTTCGAGTCGTTATCCCGGAAGTCTCAATTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGTACGCAGCTCTGGGAAGATGAGGGGTTCCAGGCCCTGAGCTGGC ACCCCTGGGGGTGCAGGCCTAGATTTCACGCCATTGCTGTTTATTCTTTCCTCAAGCTTCGAGTCGTTATCCCGGAAGTCTCAATTCTTCCTGAAGACCTAGAGGAGCTCTACGACTTATTCAAGGTACGCAGCTCTGGGAAGATGAGGGGTTCCAGGCCCTGAGCTGGC mutant NA NA NA NA NA 65 230 1 1 1 NA NA 0.992628 0.996803 NA NA 0.007372003 0.003196966 NA 0.9947155 NA 0.005284485 NA FALSE NA 0.001 0.637 . downstream_gene_variant MODIFIER TBC1D8 HGNC 17791 ENST00000473937 rs374622999 1 NA A:0 A:0.0001 CGT G,A 2.482e-05 2:101027479 TBC1D8 HGNC Symbol protein_coding 245249 ENSG00000204634 ENSE00001471865 intron_variant -0.452662 0.21314 0.02991 0.099367 0.6487765 0.17184 5.261327e-07 FALSE 1.62481e-05 ENSE00001476510_000 ENSE00001476510 000 1 5933274 5933443 - 38 84 48 NA NA NA NA NA CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 NA NA NA NA NA NA CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT natural 242 83 0.8817051 0.9186602 0.9001827 2542 2480 0.9456191 0.9584234 0.9520213 0.8817051 0.9186602 0.9456191 0.9584234 0 0 0 0 0.9001827 0.9520213 0 0 0 FALSE FALSE NA NA NA NA NA NPHP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPHP4 NA NA NA ENSG00000131697 ENSE00003535040 NA NA NA NA NA NA NA 1.293744e-17 FALSE NA ENSE00001476510_001 ENSE00001476510 001 1 5933274 5933443 - 38 84 48 T G 5933293 75 151 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGCCAAACTGATCTCGGGGCTT 5873213 5873383 5873232 5873233 5873233 downstr_intron 19 1.513514 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGCCAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 938 928 0.912845 0.9948677 0.9538563 0.8817051 0.9186602 0.9456191 0.9584234 NA NA -0.03277408 0.03644426 0.9001827 0.9520213 NA 0.00183509 NA FALSE NA 0 -1.293 . intron_variant MODIFIER NPHP4 HGNC 19104 ENST00000378156 23/29 1 NA GTC T,G 8.266e-06 1:5873233 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 intron_variant 0.014555 0.09391 0.00139 0.163922 0.3786631 0.0823793 1.293744e-17 FALSE NA ENSE00001476510_002 ENSE00001476510 002 1 5933274 5933443 - 38 84 48 C T 5933295 76 149 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAAGACAAACTGATCTCGGGGCTT 5873213 5873383 5873234 5873235 5873235 downstr_intron 17 1.459459 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAAGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 32 11 0.9370133 1 0.9685066 0.8817051 0.9186602 0.9456191 0.9584234 NA NA -0.008605813 0.04157659 0.9001827 0.9520213 NA 0.01648539 NA FALSE NA 0 0.061 . intron_variant MODIFIER NPHP4 HGNC 19104 ENST00000378156 23/29 1 NA CCT C,T 6.613e-05 1:5873235 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 intron_variant -0.089286 0.10614 0.01195 0.163922 0.358413 0.0476976 1.293744e-17 FALSE 3.25095e-05 ENSE00001476510_003 ENSE00001476510 003 1 5933274 5933443 - 38 84 48 C T 5933298 77 146 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACAGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873237 5873238 5873238 downstr_intron 14 1.378378 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACAGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 454 401 0.9996369 1 0.9998184 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05401776 0.04157659 0.9001827 0.9520213 NA 0.04779717 NA FALSE NA 0 -0.935 . intron_variant MODIFIER NPHP4 HGNC 19104 ENST00000378156 23/29 1 NA CCG C,T 1.653e-05 1:5873238 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 intron_variant -0.104894 0.08429 0.00112 0.163922 0.3432713 0.0476976 1.293744e-17 FALSE 3.65717e-05 ENSE00001476510_004 ENSE00001476510 004 1 5933274 5933443 - 38 84 48 G A 5933299 78 145 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAATGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873238 5873239 5873239 downstr_intron 13 1.351351 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAATGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 392 339 0.9926299 1 0.996315 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.04701081 0.04157659 0.9001827 0.9520213 NA 0.0442937 NA FALSE NA 0 -4.227 . intron_variant MODIFIER NPHP4 HGNC 19104 ENST00000378156 23/29 rs376968017 1 NA A:0 A:0.0001 CGT G,A 8.265e-06 1:5873239 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 intron_variant -0.348181 0.09183 0.00465 0.163922 0.4439041 0.0476976 1.293744e-17 FALSE 1.62517e-05 ENSE00001476510_005 ENSE00001476510 005 1 5933274 5933443 - 38 84 48 T C 5933313 79 131 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAGGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873252 5873253 5873253 exon -2 0.9880952 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAGGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 33 425 0.9868228 0.8005947 0.8937088 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.04120371 -0.1578287 0.9001827 0.9520213 NA -0.05831248 NA FALSE NA 1 2.627 . missense_variant&splice_region_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 rs201574744 1 tolerated(0.1) possibly_damaging(0.852) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CTT T,C 8.264e-06 1:5873253 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant 4.408383 0.96797 0.89684 0.706298 0.998259 0 1.293744e-17 FALSE NA ENSE00001476510_006 ENSE00001476510 006 1 5933274 5933443 - 38 84 48 C T 5933317 80 127 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACACCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873256 5873257 5873257 exon -6 0.9404762 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACACCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 1705 510 0.9988814 1 0.9994407 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05326234 0.04157659 0.9001827 0.9520213 NA 0.04741947 NA FALSE NA 0.893 2.587 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 1 tolerated(0.07) possibly_damaging(0.551) NA GCG C,T 2.479e-05 1:5873257 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant 5.533384 0.87997 0.45588 0.706298 0.9946903 0 1.293744e-17 FALSE 2.03087e-05 ENSE00001476510_007 ENSE00001476510 007 1 5933274 5933443 - 38 84 48 G A 5933318 81 126 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACATGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873257 5873258 5873258 exon -7 0.9285714 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACATGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 52 95 0.9900988 1 0.9950494 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.04447973 0.04157659 0.9001827 0.9520213 NA 0.04302816 NA FALSE NA 0.001 -0.509 . synonymous_variant LOW NPHP4 HGNC 19104 ENST00000378156 23/30 rs200320780 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0 A:0.0004 CGT G,A 0.0002314 1:5873258 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 synonymous_variant -0.009293 0.10902 0.01455 0.706298 0.3894422 0 1.293744e-17 FALSE 0.000182771 ENSE00001476510_008 ENSE00001476510 008 1 5933274 5933443 - 38 84 48 T C 5933319 82 125 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACGCGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873258 5873259 5873259 exon -8 0.9166667 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACGCGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 55 32 1 1 1 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05438091 0.04157659 0.9001827 0.9520213 NA 0.04797875 NA FALSE NA 0.001 0.071 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 1 tolerated(0.4) benign(0.02) NA GTG T,C 1.653e-05 1:5873259 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant -1.544681 0.13549 0.02135 0.706298 0.6522291 0 1.293744e-17 FALSE 1.21849e-05 ENSE00001476510_009 ENSE00001476510 009 1 5933274 5933443 - 38 84 48 T C 5933326 83 118 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCGCTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873265 5873266 5873266 exon -15 0.8333333 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCGCTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 698 3819 1 0.9844702 0.9922351 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05438091 0.02604675 0.9001827 0.9520213 NA 0.04021383 NA FALSE NA 0.833 1.242 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 rs372569755 1 tolerated(0.35) possibly_damaging(0.623) NA A:0 A:0.0001 GTG T,C 3.304e-05 1:5873266 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant 0.23723 0.15944 0.29705 0.706298 0.5835767 0 1.293744e-17 FALSE 2.03072e-05 ENSE00001476510_010 ENSE00001476510 010 1 5933274 5933443 - 38 84 48 G A 5933329 84 115 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGTCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873268 5873269 5873269 exon -18 0.797619 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGTCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant 28 61 0.9867035 0.9531732 0.9699384 412 640 0.9829155 0.999103 0.9910093 0.8817051 0.9186602 0.9456191 0.9584234 0.1049985 0.03451295 0.03729638 0.04067961 0.9001827 0.9520213 0.06975571 0.038988 0.03076771 FALSE FALSE 0.439 0.964 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 COSM911154 1 tolerated(0.44) benign(0.02) NA GGC G,A 8.259e-06 1:5873269 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant 0.368725 0.42068 0.21202 0.706298 0.9113026 0 1.293744e-17 FALSE 4.06151e-06 ENSE00001476510_011 ENSE00001476510 011 1 5933274 5933443 - 38 84 48 C T 5933335 85 109 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCACAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873274 5873275 5873275 exon -24 0.7261905 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCACAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 479 564 0.9766562 0.9984243 0.9875402 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.03103708 0.04000086 0.9001827 0.9520213 NA 0.03551897 NA FALSE NA 0 -0.668 rs41280798 missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 rs41280798&CM051581 1 tolerated(0.55) benign(0.005) T:0.0012 T:0 T:0 NA T:0 T:0.004 T:0.002 T:0.0002 T:0.0009 GCG C,T 0.0007928 1:5873275 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant -1.001993 0.08007 0.01263 0.706298 0.7656877 0 1.293744e-17 FALSE 0.000694518 ENSE00001476510_012 ENSE00001476510 012 1 5933274 5933443 - 38 84 48 G A 5933336 86 108 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGTGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873275 5873276 5873276 exon -25 0.7142857 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGTGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 446 551 0.9481585 0.9997129 0.9739357 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.002539379 0.04128945 0.9001827 0.9520213 NA 0.02191442 NA FALSE NA 0 -0.926 . synonymous_variant LOW NPHP4 HGNC 19104 ENST00000378156 23/30 rs543488908 1 NA CGC G,A 3.303e-05 1:5873276 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 synonymous_variant 0.602245 0.07725 0.00589 0.706298 0.5157712 0 1.293744e-17 FALSE 2.43696e-05 ENSE00001476510_014 ENSE00001476510 014 1 5933274 5933443 - 38 84 48 C A 5933346 88 98 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTTGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873285 5873286 5873286 exon -35 0.5952381 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTTGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 55 548 1 0.9973937 0.9986968 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05438091 0.03897025 0.9001827 0.9520213 NA 0.04667558 NA FALSE NA 0 -0.614 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 1 tolerated(0.66) benign(0.005) NA CCA C,A 8.255e-06 1:5873286 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant -0.052936 0.12196 0.03182 0.706298 0.6205783 0 1.293744e-17 FALSE 4.06171e-06 ENSE00001476510_015 ENSE00001476510 015 1 5933274 5933443 - 38 84 48 C A 5933356 89 88 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCTTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873295 5873296 5873296 exon 40 0.4761905 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCTTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 234 497 1 1 1 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05438091 0.04157659 0.9001827 0.9520213 NA 0.04797875 NA FALSE NA 0 -0.722 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 1 tolerated(0.32) benign(0.003) NA ACG C,A 8.254e-06 1:5873296 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant 0.138185 0.16946 0.08998 0.706298 0.2376219 0 1.293744e-17 FALSE 4.06184e-06 ENSE00001476510_016 ENSE00001476510 016 1 5933274 5933443 - 38 84 48 G A 5933357 90 87 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCTGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873296 5873297 5873297 exon 39 0.4642857 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCTGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 1432 471 0.9756574 0.9931994 0.9844284 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.03003832 0.03477602 0.9001827 0.9520213 NA 0.03240717 NA FALSE NA 0 -3.66 . synonymous_variant LOW NPHP4 HGNC 19104 ENST00000378156 23/30 COSM911156 1 NA CGG G,A 4.126e-05 1:5873297 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 synonymous_variant 0.986567 0.0607 0.00492 0.706298 0.379675 0 1.293744e-17 FALSE 3.24936e-05 ENSE00001476510_017 ENSE00001476510 017 1 5933274 5933443 - 38 84 48 C T 5933359 91 85 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACACCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873298 5873299 5873299 exon 37 0.4404762 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACACCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 428 450 0.9132582 0.9996484 0.9564533 0.8817051 0.9186602 0.9456191 0.9584234 NA NA -0.03236085 0.04122498 0.9001827 0.9520213 NA 0.004432066 NA FALSE NA 0 -2.314 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 rs573269001&COSM4009112 1 tolerated(0.37) benign(0.019) NA GCG C,T 1.65e-05 1:5873299 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant 0.088744 0.09232 0.01183 0.706298 0.8925095 0 1.293744e-17 FALSE 1.62467e-05 ENSE00001476510_018 ENSE00001476510 018 1 5933274 5933443 - 38 84 48 G A 5933360 92 84 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGATGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873299 5873300 5873300 exon 36 0.4285714 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGATGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 1088 1284 0.8639947 0.9979587 0.9309767 0.8817051 0.9186602 0.9456191 0.9584234 NA NA -0.08162438 0.0395353 0.9001827 0.9520213 NA -0.02104454 NA FALSE NA 0 -3.662 rs187149431 synonymous_variant LOW NPHP4 HGNC 19104 ENST00000378156 23/30 rs187149431 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGT G,A 0.000165 1:5873300 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 synonymous_variant -0.387286 0.05057 0.00759 0.706298 0.372354 0 1.293744e-17 FALSE 0.000219323 ENSE00001476510_019 ENSE00001476510 019 1 5933274 5933443 - 38 84 48 T C 5933365 93 79 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCGTGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873304 5873305 5873305 exon 31 0.3690476 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCGTGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 961 190 0.9148376 1 0.9574188 0.8817051 0.9186602 0.9456191 0.9584234 NA NA -0.03078149 0.04157659 0.9001827 0.9520213 NA 0.005397551 NA FALSE NA 0 -1.2 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 1 tolerated(0.42) benign(0) NA ATG T,C 8.25e-06 1:5873305 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant -1.590519 0.11182 0.01416 0.706298 0.3506711 0 1.293744e-17 FALSE NA ENSE00001476510_022 ENSE00001476510 022 1 5933274 5933443 - 38 84 48 G A 5933375 96 69 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAATGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873314 5873315 5873315 exon 21 0.25 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAATGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 676 483 0.8956015 0.9978438 0.9467227 0.8817051 0.9186602 0.9456191 0.9584234 NA NA -0.0500176 0.03942041 0.9001827 0.9520213 NA -0.005298596 NA FALSE NA 0 -2.374 . synonymous_variant LOW NPHP4 HGNC 19104 ENST00000378156 23/30 1 NA CGT G,A 8.249e-06 1:5873315 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 synonymous_variant 0.345577 0.07625 0.00577 0.706298 0.4867078 0 1.293744e-17 FALSE 1.21852e-05 ENSE00001476510_023 ENSE00001476510 023 1 5933274 5933443 - 38 84 48 C T 5933379 97 65 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAACAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873318 5873319 5873319 exon 17 0.202381 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAACAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 836 401 1 0.9989363 0.9994681 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05438091 0.04051287 0.9001827 0.9520213 NA 0.04744689 NA FALSE NA 0.004 1.165 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 1 tolerated(0.49) benign(0.438) NA GCT C,T 8.248e-06 1:5873319 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant 0.325029 0.17412 0.15972 0.706298 0.6159507 0 1.293744e-17 FALSE 4.06164e-06 ENSE00001476510_024 ENSE00001476510 024 1 5933274 5933443 - 38 84 48 C G 5933384 98 60 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGCTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873323 5873324 5873324 exon 12 0.1428571 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGCTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 258 425 1 1 1 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05438091 0.04157659 0.9001827 0.9520213 NA 0.04797875 NA FALSE NA 0 0.447 rs41280800 synonymous_variant LOW NPHP4 HGNC 19104 ENST00000378156 23/30 rs41280800&COSM3747036 1 G:0.0090 G:0.0053 G:0.013 NA G:0 G:0.0288 G:0 G:0.0088 G:0.0251 ACC C,G 0.014 1:5873324 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 synonymous_variant 0.474195 0.18713 0.09663 0.706298 0.4733685 0 1.293744e-17 FALSE 0.0143857 ENSE00001476510_025 ENSE00001476510 025 1 5933274 5933443 - 38 84 48 C G 5933386 99 58 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTCGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873325 5873326 5873326 exon 10 0.1190476 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTCGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 1203 102 0.9991416 1 0.9995708 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05352253 0.04157659 0.9001827 0.9520213 NA 0.04754956 NA FALSE NA 0 1.207 . missense_variant MODERATE NPHP4 HGNC 19104 ENST00000378156 23/30 rs373981841 1 tolerated(0.39) benign(0.022) NA G:0 G:0.0001 CCA C,G 1.65e-05 1:5873326 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 missense_variant 0.548865 0.22294 0.16012 0.706298 0.5409553 0 1.293744e-17 FALSE 8.12387e-06 ENSE00001476510_027 ENSE00001476510 027 1 5933274 5933443 - 38 84 48 G A 5933407 101 37 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTTGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873346 5873347 5873347 upstr_intron -12 -0.2291667 CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTTGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 752 436 0.8757634 1 0.9378817 0.8817051 0.9186602 0.9456191 0.9584234 NA NA -0.06985568 0.04157659 0.9001827 0.9520213 NA -0.01413955 NA FALSE NA 0 -1.036 . intron_variant MODIFIER NPHP4 HGNC 19104 ENST00000378156 22/29 rs370840400 1 A:0.0006 A:0.0008 A:0.0029 NA A:0 A:0 A:0 A:0.0023 A:0.0001 CGA G,A 0.000272 1:5873347 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 non_coding_transcript_exon_variant -0.179708 0.11368 0.00406 0.099367 0.381617 0.104235 1.293744e-17 FALSE 0.000276328 ENSE00001476510_028 ENSE00001476510 028 1 5933274 5933443 - 38 84 48 A G 5933429 102 15 CCTAATGGTGTTGCCTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 5873368 5873369 5873369 upstr_intron -34 -0.6875 CCTAATGGTGTTGCCTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT mutant NA NA NA NA NA 1013 97 0.9988569 1 0.9994285 0.8817051 0.9186602 0.9456191 0.9584234 NA NA 0.05323781 0.04157659 0.9001827 0.9520213 NA 0.0474072 NA FALSE NA 0 -0.213 . intron_variant MODIFIER NPHP4 HGNC 19104 ENST00000378156 22/29 1 NA AAG A,G 8.24e-06 1:5873369 NPHP4 HGNC Symbol protein_coding 129662 ENSG00000131697 ENSE00003535040 non_coding_transcript_exon_variant -0.084023 0.06807 0.00067 0.099367 0.2764719 0.0973741 1.293744e-17 FALSE 4.07249e-06 ENSE00001476510_BRK ENSE00001476510 BRK 1 5933274 5933443 - 38 84 48 A,G; T,T NA NA NA CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCTTGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGCCAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT 5873213 5873383 NA NA NA NA NA NA CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCTTGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGCCAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT CCTAATGGTGTTGCTTCCTGACCTGCTTGTGCTGTTCGGTTCCTGCAGGCCTCTCCTGGGTTGAGCAACGAGAAGGGCATGGACGCCGTGTCACCTTGGAAGTCCAGCGCAGTGCCCACTAAACACGCCAAGGTAAAGGGGCAACGGAGGACAAACTGATCTCGGGGCTT control 186 282 0 0 0 132 248 0.02449261 0 0.01224631 0.8817051 0.9186602 0.9456191 0.9584234 -0.8817051 -0.9186602 -0.9211265 -0.9584234 0.9001827 0.9520213 -0.9001827 -0.9397749 0.03959228 TRUE TRUE NA NA NA NA NA NPHP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPHP4 NA NA NA ENSG00000131697 ENSE00003535040 NA NA NA NA NA NA NA 1.293744e-17 FALSE NA ENSE00001478904_000 ENSE00001478904 000 11 44074490 44074659 + 51 78 41 NA NA NA NA NA ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 NA NA NA NA NA NA ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC natural 10 33 0.9991048 1 0.9995524 6570 3967 0.9971986 0.9767615 0.98698 0.9991048 1 0.9971986 0.9767615 0 0 0 0 0.9995524 0.98698 0 0 0 FALSE FALSE NA NA NA NA NA ACCSL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACCSL NA NA NA ENSG00000205126 ENSE00003489752 NA NA NA NA NA NA NA 2.583242e-11 FALSE NA ENSE00001478904_002 ENSE00001478904 002 11 44074490 44074659 + 51 78 41 A T 44074512 1041 23 ATCAAGACTTAGATTTTAAGAGTCACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44052961 44052962 44052962 upstr_intron -29 -0.5490196 ATCAAGACTTAGATTTTAAGAGTCACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 517 125 1 0.9300892 0.9650446 0.9991048 1 0.9971986 0.9767615 NA NA 0.002801443 -0.04667237 0.9995524 0.98698 NA -0.02193546 NA FALSE NA 0.001 0.554 . intron_variant MODIFIER ACCSL HGNC 34391 ENST00000378832 6/13 1 NA GAC A,T 8.274e-06 11:44052962 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 intron_variant -0.072994 0.26165 0.063 0.080785 0.416002 0.0543843 2.583242e-11 FALSE 4.07325e-06 ENSE00001478904_003 ENSE00001478904 003 11 44074490 44074659 + 51 78 41 C T 44074515 1042 26 ATCAAGACTTAGATTTTAAGAGACATTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44052964 44052965 44052965 upstr_intron -26 -0.4901961 ATCAAGACTTAGATTTTAAGAGACATTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 111 1142 1 0.9855924 0.9927962 0.9991048 1 0.9971986 0.9767615 NA NA 0.002801443 0.008830895 0.9995524 0.98698 NA 0.005816169 NA FALSE NA 0 -0.698 . intron_variant MODIFIER ACCSL HGNC 34391 ENST00000378832 6/13 1 NA ACT C,T 8.274e-06 11:44052965 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 intron_variant -0.07822 0.1383 0.01399 0.080785 0.5218553 0.0543843 2.583242e-11 FALSE NA ENSE00001478904_004 ENSE00001478904 004 11 44074490 44074659 + 51 78 41 G C 44074526 1043 37 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATACTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44052975 44052976 44052976 upstr_intron -15 -0.2745098 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATACTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 70 261 1 1 1 0.9991048 1 0.9971986 0.9767615 NA NA 0.002801443 0.02323846 0.9995524 0.98698 NA 0.01301995 NA FALSE NA 0 -0.003 . intron_variant MODIFIER ACCSL HGNC 34391 ENST00000378832 6/13 rs531254704 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 AGT G,C 8.274e-06 11:44052976 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 intron_variant -0.915441 0.2413 0.08891 0.080785 0.2674745 0.0543843 2.583242e-11 FALSE 4.06808e-06 ENSE00001478904_005 ENSE00001478904 005 11 44074490 44074659 + 51 78 41 A C 44074544 1044 55 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCCCTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44052993 44052994 44052994 exon 4 0.05128205 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCCCTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 1088 45 0.9984004 1 0.9992002 0.9991048 1 0.9971986 0.9767615 NA NA 0.001201881 0.02323846 0.9995524 0.98698 NA 0.01222017 NA FALSE NA 0.001 0.555 rs190671293 missense_variant MODERATE ACCSL HGNC 34391 ENST00000378832 7/14 rs190671293 1 deleterious(0.02) benign(0.376) NA CAC A,C 1.655e-05 11:44052994 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 missense_variant 0.487361 0.51172 0.14729 0.487112 0.8477701 0 2.583242e-11 FALSE 3.25253e-05 ENSE00001478904_006 ENSE00001478904 006 11 44074490 44074659 + 51 78 41 C T 44074551 1045 62 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTATAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053000 44053001 44053001 exon 11 0.1410256 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTATAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 446 37 0.9968931 1 0.9984466 0.9991048 1 0.9971986 0.9767615 NA NA -0.0003054529 0.02323846 0.9995524 0.98698 NA 0.0114665 NA FALSE NA 0 -0.794 . missense_variant MODERATE ACCSL HGNC 34391 ENST00000378832 7/14 1 tolerated(0.17) benign(0.004) NA ACA C,T 8.274e-06 11:44053001 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 missense_variant -0.374363 0.19696 0.05812 0.487112 0.6460988 0 2.583242e-11 FALSE 4.06514e-06 ENSE00001478904_007 ENSE00001478904 007 11 44074490 44074659 + 51 78 41 C A 44074555 1046 66 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAAAACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053004 44053005 44053005 exon 15 0.1923077 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAAAACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 294 94 1 1 1 0.9991048 1 0.9971986 0.9767615 NA NA 0.002801443 0.02323846 0.9995524 0.98698 NA 0.01301995 NA FALSE NA 0 -0.055 . missense_variant MODERATE ACCSL HGNC 34391 ENST00000378832 7/14 1 tolerated(0.06) benign(0.125) NA ACA C,A 8.273e-06 11:44053005 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 missense_variant 2.634437 0.28187 0.07545 0.487112 0.9718266 0 2.583242e-11 FALSE 4.06484e-06 ENSE00001478904_011 ENSE00001478904 011 11 44074490 44074659 + 51 78 41 G A 44074585 1050 96 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAATTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053034 44053035 44053035 exon -34 0.5769231 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAATTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 465 215 0.9993788 0.994317 0.9968479 0.9991048 1 0.9971986 0.9767615 NA NA 0.002180277 0.01755549 0.9995524 0.98698 NA 0.009867884 NA FALSE NA 0.578 0.769 . synonymous_variant LOW ACCSL HGNC 34391 ENST00000378832 7/14 1 NA AGT G,A 8.274e-06 11:44053035 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 synonymous_variant 0.57137 0.94934 0.24659 0.487112 0.4511619 0 2.583242e-11 FALSE 8.12982e-06 ENSE00001478904_012 ENSE00001478904 012 11 44074490 44074659 + 51 78 41 G A 44074595 1051 106 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAACCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053044 44053045 44053045 exon -24 0.7051282 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAACCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 24 116 0.9664408 0.879922 0.9231814 0.9991048 1 0.9971986 0.9767615 NA NA -0.03075774 -0.09683955 0.9995524 0.98698 NA -0.06379864 NA FALSE NA 0.092 0.993 . missense_variant MODERATE ACCSL HGNC 34391 ENST00000378832 7/14 1 tolerated(0.11) benign(0.21) NA AGC G,A 1.655e-05 11:44053045 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 missense_variant 0.03521 0.21124 0.10371 0.487112 0.7715645 0 2.583242e-11 FALSE 1.21969e-05 ENSE00001478904_013 ENSE00001478904 013 11 44074490 44074659 + 51 78 41 C A 44074596 1052 107 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGACCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053045 44053046 44053046 exon -23 0.7179487 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGACCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 426 696 0.9882063 0.9987734 0.9934899 0.9991048 1 0.9971986 0.9767615 NA NA -0.008992253 0.02201186 0.9995524 0.98698 NA 0.006509804 NA FALSE NA 0.098 1.382 . missense_variant MODERATE ACCSL HGNC 34391 ENST00000378832 7/14 1 deleterious(0) probably_damaging(0.954) NA GCC C,A 8.274e-06 11:44053046 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 missense_variant 4.113948 0.33154 0.25473 0.487112 0.9865988 0 2.583242e-11 FALSE NA ENSE00001478904_014 ENSE00001478904 014 11 44074490 44074659 + 51 78 41 C G 44074597 1053 108 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCGCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053046 44053047 44053047 exon -22 0.7307692 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCGCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 122 870 0.9833834 0.9409483 0.9621659 0.9991048 1 0.9971986 0.9767615 NA NA -0.01381514 -0.03581324 0.9995524 0.98698 NA -0.02481419 NA FALSE NA 0.075 -0.185 . synonymous_variant LOW ACCSL HGNC 34391 ENST00000378832 7/14 1 NA CCC C,G 8.274e-06 11:44053047 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 synonymous_variant 0.722017 0.3528 0.10601 0.487112 0.4227347 0 2.583242e-11 FALSE 4.06567e-06 ENSE00001478904_015 ENSE00001478904 015 11 44074490 44074659 + 51 78 41 C G 44074608 1054 119 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGGTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053057 44053058 44053058 exon -11 0.8717949 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGGTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 218 343 1 0.9829247 0.9914624 0.9991048 1 0.9971986 0.9767615 NA NA 0.002801443 0.006163192 0.9995524 0.98698 NA 0.004482317 NA FALSE NA 0.999 4.233 . missense_variant MODERATE ACCSL HGNC 34391 ENST00000378832 7/14 1 deleterious(0) probably_damaging(0.964) NA GCT C,G 4.965e-05 11:44053058 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 missense_variant 5.294806 0.99343 0.9833 0.487112 0.9928789 0 2.583242e-11 FALSE 4.06686e-05 ENSE00001478904_017 ENSE00001478904 017 11 44074490 44074659 + 51 78 41 A G 44074621 1056 132 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTGAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053070 44053071 44053071 downstr_intron 3 1.075 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTGAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 163 39 0.8 0.8064415 0.8032207 0.9991048 1 0.9971986 0.9767615 NA NA -0.1971986 -0.1703201 0.9995524 0.98698 NA -0.1837593 NA FALSE NA 1 1.169 . splice_region_variant&intron_variant LOW ACCSL HGNC 34391 ENST00000378832 7/13 1 NA TAA A,G 8.275e-06 11:44053071 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 splice_region_variant 0.5287 0.97244 0.50414 0.06567 0.7218698 0.21872 2.583242e-11 FALSE 8.13782e-06 ENSE00001478904_019 ENSE00001478904 019 11 44074490 44074659 + 51 78 41 A G 44074630 1058 141 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAGCCATATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053079 44053080 44053080 downstr_intron 12 1.3 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAGCCATATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 153 887 1 1 1 0.9991048 1 0.9971986 0.9767615 NA NA 0.002801443 0.02323846 0.9995524 0.98698 NA 0.01301995 NA FALSE NA 0 0.144 . intron_variant MODIFIER ACCSL HGNC 34391 ENST00000378832 7/13 1 NA AAC A,G 8.275e-06 11:44053080 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 intron_variant 0.14198 0.22337 0.01447 0.06567 0.574545 0.0930411 2.583242e-11 FALSE 8.14432e-06 ENSE00001478904_020 ENSE00001478904 020 11 44074490 44074659 + 51 78 41 T G 44074634 1059 145 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCAGATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053083 44053084 44053084 downstr_intron 16 1.4 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCAGATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 147 59 0.9839813 1 0.9919907 0.9991048 1 0.9971986 0.9767615 NA NA -0.01321722 0.02323846 0.9995524 0.98698 NA 0.00501062 NA FALSE NA 0 -1.203 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:44053084 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 intron_variant -0.060999 0.23449 0.0321 0.06567 0.5503907 0.0930411 2.583242e-11 FALSE 4.07415e-06 ENSE00001478904_021 ENSE00001478904 021 11 44074490 44074659 + 51 78 41 T C 44074634 1060 145 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCACATTTTTAGGATGGCCACTGCTGGTC 44052939 44053109 44053083 44053084 44053084 downstr_intron 16 1.4 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCACATTTTTAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 318 231 1 1 1 0.9991048 1 0.9971986 0.9767615 NA NA 0.002801443 0.02323846 0.9995524 0.98698 NA 0.01301995 NA FALSE NA 0 -1.203 NA NA NA ACCSL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACCSL NA NA NA ENSG00000205126 ENSE00003489752 intron_variant -0.198463 0.21355 0.01997 0.06567 0.5364678 0.0930411 2.583242e-11 FALSE 4.07415e-06 ENSE00001478904_022 ENSE00001478904 022 11 44074490 44074659 + 51 78 41 T A 44074640 1061 151 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTAAGGATGGCCACTGCTGGTC 44052939 44053109 44053089 44053090 44053090 downstr_intron 22 1.55 ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTAAGGATGGCCACTGCTGGTC ATCAAGACTTAGATTTTAAGAGACACTTCTCACATAGTGTTTCTCTTCCAGGTCACTGTTACAAACACCCATCCTTTCCAGCTCACTGTGGACAAGTTAGAGGAAGCCCTGCTTGAAGCTAGGCTTGAGGTAAGGTGGGAACCATATTTTTAGGATGGCCACTGCTGGTC mutant NA NA NA NA NA 920 294 0.9988311 1 0.9994156 0.9991048 1 0.9971986 0.9767615 NA NA 0.001632571 0.02323846 0.9995524 0.98698 NA 0.01243551 NA FALSE NA 0 -0.325 . intron_variant MODIFIER ACCSL HGNC 34391 ENST00000378832 7/13 1 NA TTA T,A 8.275e-06 11:44053090 ACCSL HGNC Symbol protein_coding 11996 ENSG00000205126 ENSE00003489752 intron_variant 0.205222 0.23698 0.03634 0.06567 0.6250231 0.0930411 2.583242e-11 FALSE 4.07671e-06 ENSE00001479783_000 ENSE00001479783 000 8 80679200 80679369 - 32 96 42 NA NA NA NA NA CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 NA NA NA NA NA NA CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC natural 65 32 0.9839419 0.9856507 0.9847963 1239 1291 0.9992001 0.9948161 0.9970081 0.9839419 0.9856507 0.9992001 0.9948161 0 0 0 0 0.9847963 0.9970081 0 0 0 FALSE FALSE NA NA NA NA NA HEY1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HEY1 NA NA NA ENSG00000164683 ENSE00001479783 NA NA NA NA NA NA NA 0.9161047 TRUE NA ENSE00001479783_001 ENSE00001479783 001 8 80679200 80679369 - 32 96 42 C A 80679210 1488 160 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATATCTATCTGCAC 79766964 79767134 79766974 79766975 79766975 downstr_intron 22 1.709677 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATATCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 761 10 1 0.8197648 0.9098824 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 -0.1750512 0.9847963 0.9970081 NA -0.08712566 NA FALSE NA 0 0.917 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 3/4 rs374632267 1 NA A:0.0002 A:0 GCT C,A 8.236e-06 8:79766975 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 1.055038 0.34127 0.21756 0.166803 0.6420958 0.141386 0.9161047 TRUE NA ENSE00001479783_002 ENSE00001479783 002 8 80679200 80679369 - 32 96 42 T C 80679213 1489 157 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCGTAGCTATCTGCAC 79766964 79767134 79766977 79766978 79766978 downstr_intron 19 1.612903 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCGTAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 77 316 1 1 1 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 0.005183948 0.9847963 0.9970081 NA 0.002991923 NA FALSE NA 0 0.023 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 3/4 rs572924409 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATG T,C 1.647e-05 8:79766978 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 0.345022 0.11637 0.00301 0.166803 0.7249029 0.141386 0.9161047 TRUE 8.14306e-06 ENSE00001479783_003 ENSE00001479783 003 8 80679200 80679369 - 32 96 42 A C 80679218 1490 152 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCGCAGCATAGCTATCTGCAC 79766964 79767134 79766982 79766983 79766983 downstr_intron 14 1.451613 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCGCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 1272 284 0.9997409 0.9994427 0.9995918 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0005407851 0.004626665 0.9847963 0.9970081 NA 0.002583725 NA FALSE NA 0 0.186 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 3/4 1 NA GAG A,C 8.236e-06 8:79766983 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 0.819666 0.21719 0.13096 0.206829 0.7913329 0.141386 0.9161047 TRUE 4.06851e-06 ENSE00001479783_005 ENSE00001479783 005 8 80679200 80679369 - 32 96 42 G A 80679221 1492 149 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGTTCTCAGCATAGCTATCTGCAC 79766964 79767134 79766985 79766986 79766986 downstr_intron 11 1.354839 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGTTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 53 136 0.9970959 0.9941405 0.9956182 0.9839419 0.9856507 0.9992001 0.9948161 NA NA -0.002104186 -0.0006755239 0.9847963 0.9970081 NA -0.001389855 NA FALSE NA 0.005 0.505 rs113738053 intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 3/4 rs113738053 1 A:0.0140 A:0.0522 A:0.0014 NA A:0 A:0 A:0 A:0.0424 A:0 AGC G,A 0.004052 8:79766986 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 0.714454 0.35318 0.10946 0.206829 0.661806 0.141386 0.9161047 TRUE 0.00320057 ENSE00001479783_008 ENSE00001479783 008 8 80679200 80679369 - 32 96 42 G C 80679262 1495 108 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCGAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767026 79767027 79767027 exon -31 0.6875 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCGAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 142 526 1 0.9965253 0.9982627 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 0.001709287 0.9847963 0.9970081 NA 0.001254593 NA FALSE NA 0.997 0.288 rs140932864 synonymous_variant LOW HEY1 HGNC 4880 ENST00000354724 3/5 rs140932864 1 C:0.0008 C:0.0023 C:0.0014 NA C:0 C:0 C:0 C:0.0016 C:0 TGG G,C 0.0001565 8:79767027 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 synonymous_variant 1.054507 0.92054 0.75329 0.652421 0.7332193 0 0.9161047 TRUE 0.000109651 ENSE00001479783_010 ENSE00001479783 010 8 80679200 80679369 - 32 96 42 C T 80679280 1497 90 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAACTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767044 79767045 79767045 exon 48 0.5 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAACTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 1065 157 1 0.9979799 0.99899 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 0.003163893 0.9847963 0.9970081 NA 0.001981896 NA FALSE NA 1 3.77 . synonymous_variant LOW HEY1 HGNC 4880 ENST00000354724 3/5 rs544475862 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCT C,T 8.236e-06 8:79767045 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 synonymous_variant 1.806813 0.96881 0.87012 0.652421 0.8669499 0 0.9161047 TRUE 4.06105e-06 ENSE00001479783_011 ENSE00001479783 011 8 80679200 80679369 - 32 96 42 C A 80679301 1498 69 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGTATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767065 79767066 79767066 exon 27 0.28125 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGTATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 215 78 1 1 1 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 0.005183948 0.9847963 0.9970081 NA 0.002991923 NA FALSE NA 0.996 0.617 . synonymous_variant LOW HEY1 HGNC 4880 ENST00000354724 3/5 1 NA TCC C,A 8.236e-06 8:79767066 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 synonymous_variant 2.561851 0.90706 0.67378 0.652421 0.8136808 0 0.9161047 TRUE 4.06101e-06 ENSE00001479783_014 ENSE00001479783 014 8 80679200 80679369 - 32 96 42 G A 80679337 1501 33 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGTCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767101 79767102 79767102 upstr_intron -10 -0.2142857 CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGTCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 54 1149 1 0.9944001 0.9972 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 -0.0004159918 0.9847963 0.9970081 NA 0.0001919536 NA FALSE NA 0.002 0.582 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 2/4 1 NA GGC G,A 8.236e-06 8:79767102 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 0.885493 0.37986 0.09767 0.199473 0.6970606 0.323219 0.9161047 TRUE 4.06418e-06 ENSE00001479783_015 ENSE00001479783 015 8 80679200 80679369 - 32 96 42 A T 80679350 1502 20 CGTAATGGTAATGCCTTCCATTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767114 79767115 79767115 upstr_intron -23 -0.5238095 CGTAATGGTAATGCCTTCCATTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 105 562 0.9807196 0.9677962 0.9742579 0.9839419 0.9856507 0.9992001 0.9948161 NA NA -0.01848049 -0.02701983 0.9847963 0.9970081 NA -0.02275016 NA FALSE NA 0.996 2.879 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 2/4 1 NA AAG A,T 8.237e-06 8:79767115 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 0.999442 0.92496 0.82778 0.199473 0.713358 0.546877 0.9161047 TRUE 4.06564e-06 ENSE00001479783_016 ENSE00001479783 016 8 80679200 80679369 - 32 96 42 A C 80679353 1503 17 CGTAATGGTAATGCCTGCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767117 79767118 79767118 upstr_intron -26 -0.5952381 CGTAATGGTAATGCCTGCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 569 223 1 1 1 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 0.005183948 0.9847963 0.9970081 NA 0.002991923 NA FALSE NA 0.008 -0.072 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 2/4 rs374460385 1 C:0.0018 C:0 C:0 NA C:0.0089 C:0 C:0 GAA A,C 0.0002059 8:79767118 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 0.17327 0.25442 0.05149 0.199473 0.5682308 0.316474 0.9161047 TRUE 0.000207479 ENSE00001479783_017 ENSE00001479783 017 8 80679200 80679369 - 32 96 42 G C 80679355 1504 15 CGTAATGGTAATGCGTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767119 79767120 79767120 upstr_intron -28 -0.6428571 CGTAATGGTAATGCGTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 87 357 1 1 1 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 0.005183948 0.9847963 0.9970081 NA 0.002991923 NA FALSE NA 0.036 1.515 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 2/4 rs377204964 1 NA C:0 C:0.0001 AGG G,C 8.236e-06 8:79767120 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant -0.118477 0.31227 0.15582 0.199473 0.4318124 0.331138 0.9161047 TRUE 4.07325e-06 ENSE00001479783_018 ENSE00001479783 018 8 80679200 80679369 - 32 96 42 G T 80679356 1505 14 CGTAATGGTAATGACTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767120 79767121 79767121 upstr_intron -29 -0.6666667 CGTAATGGTAATGACTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 401 38 1 0.9741755 0.9870878 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 -0.02064055 0.9847963 0.9970081 NA -0.009920325 NA FALSE NA 0.001 -0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:79767121 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant -0.237784 0.22106 0.05186 0.199473 0.6841456 0.304917 0.9161047 TRUE 4.07359e-06 ENSE00001479783_019 ENSE00001479783 019 8 80679200 80679369 - 32 96 42 G A 80679356 1506 14 CGTAATGGTAATGTCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767120 79767121 79767121 upstr_intron -29 -0.6666667 CGTAATGGTAATGTCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 374 84 0.9778862 1 0.9889431 0.9839419 0.9856507 0.9992001 0.9948161 NA NA -0.02131391 0.005183948 0.9847963 0.9970081 NA -0.008064981 NA FALSE NA 0.001 -0.38 NA NA NA HEY1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HEY1 NA NA NA ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 0.043522 0.2089 0.00787 0.199473 0.8164061 0.304917 0.9161047 TRUE 3.66623e-05 ENSE00001479783_020 ENSE00001479783 020 8 80679200 80679369 - 32 96 42 C T 80679357 1507 13 CGTAATGGTAATACCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767121 79767122 79767122 upstr_intron -30 -0.6904762 CGTAATGGTAATACCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 29 114 1 0.9896926 0.9948463 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 -0.005123453 0.9847963 0.9970081 NA -0.002161777 NA FALSE NA 0.007 -0.141 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 2/4 rs374178891 1 NA T:0.0002 T:0 GCA C,T 8.236e-06 8:79767122 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant -0.127558 0.20745 0.08058 0.199473 0.8540611 0.198488 0.9161047 TRUE 4.07402e-06 ENSE00001479783_021 ENSE00001479783 021 8 80679200 80679369 - 32 96 42 A G 80679358 1508 12 CGTAATGGTAACGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC 79766964 79767134 79767122 79767123 79767123 upstr_intron -31 -0.7142857 CGTAATGGTAACGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC CGTAATGGTAATGCCTTCCTTTGTTTTGCTTGCCTTCTGCAGATAATTGAGAAGCGCCGACGAGACCGGATCAATAACAGTTTGTCTGAGCTGAGAAGGCTGGTACCCAGTGCTTTTGAGAAGCAGGTAATGGAGCAAGTAGGTAAAGCTCTCAGCATAGCTATCTGCAC mutant NA NA NA NA NA 43 326 1 0.9989424 0.9994712 0.9839419 0.9856507 0.9992001 0.9948161 NA NA 0.0007998989 0.00412633 0.9847963 0.9970081 NA 0.002463114 NA FALSE NA 0.207 1.598 . intron_variant MODIFIER HEY1 HGNC 4880 ENST00000354724 2/4 rs368306843 1 NA G:0 G:0.0001 CAT A,G 2.471e-05 8:79767123 HEY1 HGNC Symbol protein_coding 3853 ENSG00000164683 ENSE00001479783 non_coding_transcript_exon_variant 0.261594 0.31754 0.44856 0.199473 0.4996231 0.264967 0.9161047 TRUE 2.03588e-05 ENSE00001481041_000 ENSE00001481041 000 19 19770672 19770841 - 35 90 45 NA NA NA NA NA GCCCCTCCTCCAGGAGCCCAGCAGGCAGTCCCTACCTCATTGCGGTGCAGGGCCACGAGCTCCGTGGAGCCATTGTTGGGGGTTGGCACCACCTTCACAAAGGTCGCTTTGCTGGGGTCGTACTCCTGACAGAGACAAAGAAAGCATTGTGGCTTAGCTCTTCTCAACCT 19659862 19660032 NA NA NA NA NA NA AGGTTGAGAAGAGCTAAGCCACAATGCTTTCTTTGTCTCTGTCAGGAGTACGACCCCAGCAAAGCGACCTTTGTGAAGGTGGTGCCAACCCCCAACAATGGCTCCACGGAGCTCGTGGCCCTGCACCGCAATGAGGTAGGGACTGCCTGCTGGGCTCCTGGAGGAGGGGC AGGTTGAGAAGAGCTAAGCCACAATGCTTTCTTTGTCTCTGTCAGGAGTACGACCCCAGCAAAGCGACCTTTGTGAAGGTGGTGCCAACCCCCAACAATGGCTCCACGGAGCTCGTGGCCCTGCACCGCAATGAGGTAGGGACTGCCTGCTGGGCTCCTGGAGGAGGGGC natural 21 113 0.9491183 0.85 0.8995592 261 174 0.95 0.9753169 0.9626584 0.9491183 0.85 0.95 0.9753169 0 0 0 0 0.8995592 0.9626584 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001481041 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001481111_000 ENSE00001481111 000 8 62465555 62465724 - 35 90 45 NA NA NA NA NA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 NA NA NA NA NA NA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA natural 125 202 0.85 0.85 0.85 4622 3103 0.938905 0.9186686 0.9287868 0.85 0.85 0.938905 0.9186686 0 0 0 0 0.85 0.9287868 0 0 0 FALSE FALSE NA NA NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASPH NA NA NA ENSG00000198363 ENSE00003804713 NA NA NA NA NA NA NA 1.017662e-08 FALSE NA ENSE00001481111_001 ENSE00001481111 001 8 62465555 62465724 - 35 90 45 T G 62465574 1301 151 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGACTTTCTGATTCTCTCTAACA 61552995 61553165 61553014 61553015 61553015 downstr_intron 16 1.470588 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGACTTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 535 1418 0.8733362 0.8187988 0.8460675 0.85 0.85 0.938905 0.9186686 NA NA -0.06556884 -0.09986978 0.85 0.9287868 NA -0.08271931 NA FALSE NA 0 -0.588 . intron_variant MODIFIER ASPH HGNC 757 ENST00000541428 20/24 1 NA ATT T,G 8.236e-06 8:61553015 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 intron_variant -0.036029 0.22852 0.00756 0.053691 0.5025288 0.0448725 1.017662e-08 FALSE 4.084e-06 ENSE00001481111_003 ENSE00001481111 003 8 62465555 62465724 - 35 90 45 T C 62465593 1303 132 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAGGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553033 61553034 61553034 exon -4 0.9666667 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAGGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 428 1666 0.9276443 0.7471633 0.8374038 0.85 0.85 0.938905 0.9186686 NA NA -0.01126072 -0.1715053 0.85 0.9287868 NA -0.091383 NA FALSE NA 1 1.662 . synonymous_variant LOW ASPH HGNC 757 ENST00000541428 20/25 1 NA CTT T,C 8.236e-06 8:61553034 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 synonymous_variant 0.01641 0.97478 0.8666 0.706298 0.7142255 0 1.017662e-08 FALSE 4.06673e-06 ENSE00001481111_005 ENSE00001481111 005 8 62465555 62465724 - 35 90 45 C A 62465600 1305 125 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGTGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553040 61553041 61553041 exon -11 0.8888889 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGTGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 328 386 1 0.9999013 0.9999507 0.85 0.85 0.938905 0.9186686 NA NA 0.06109499 0.08123278 0.85 0.9287868 NA 0.07116388 NA FALSE NA 1 7.192 . missense_variant MODERATE ASPH HGNC 757 ENST00000541428 20/25 1 deleterious(0) probably_damaging(0.979) NA CCC C,A 8.236e-06 8:61553041 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 7.402463 0.99423 0.98563 0.706298 0.997967 0 1.017662e-08 FALSE 4.0659e-06 ENSE00001481111_007 ENSE00001481111 007 8 62465555 62465724 - 35 90 45 C T 62465604 1307 121 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGATTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553044 61553045 61553045 exon -15 0.8444444 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGATTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 381 251 0.9998919 0.9980042 0.9989481 0.85 0.85 0.938905 0.9186686 NA NA 0.06098692 0.07933568 0.85 0.9287868 NA 0.0701613 NA FALSE NA 0.996 2.297 . missense_variant MODERATE ASPH HGNC 757 ENST00000541428 20/25 rs532922932 1 tolerated(0.22) benign(0.198) T:0.0014 T:0 T:0 NA T:0 T:0 T:0.0072 ACC C,T 0.0006177 8:61553045 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 3.640907 0.98953 0.89104 0.706298 0.9920403 0 1.017662e-08 FALSE 0.000552926 ENSE00001481111_008 ENSE00001481111 008 8 62465555 62465724 - 35 90 45 C T 62465608 1308 117 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAAAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553048 61553049 61553049 exon -19 0.8 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAAAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 635 280 0.9556512 0.9560641 0.9558576 0.85 0.85 0.938905 0.9186686 NA NA 0.01674614 0.0373955 0.85 0.9287868 NA 0.02707082 NA FALSE NA 0.998 0.573 . synonymous_variant LOW ASPH HGNC 757 ENST00000541428 20/25 1 NA TCT C,T 8.236e-06 8:61553049 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 synonymous_variant 1.385424 0.97246 0.80451 0.706298 0.6524005 0 1.017662e-08 FALSE 4.06507e-06 ENSE00001481111_009 ENSE00001481111 009 8 62465555 62465724 - 35 90 45 G A 62465610 1309 115 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGTAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553050 61553051 61553051 exon -21 0.7777778 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGTAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 539 241 0.008847682 0.001520144 0.005183913 0.85 0.85 0.938905 0.9186686 NA NA -0.9300573 -0.9171484 0.85 0.9287868 NA -0.9236029 NA TRUE NA 1 9.096 . stop_gained HIGH ASPH HGNC 757 ENST00000541428 20/25 1 NA HC TGC G,A 8.236e-06 8:61553051 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 stop_gained 13.98768 0.99397 0.98968 0.706298 0.998233 0 1.017662e-08 FALSE 4.06567e-06 ENSE00001481111_010 ENSE00001481111 010 8 62465555 62465724 - 35 90 45 A G 62465612 1310 113 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCACGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553052 61553053 61553053 exon -23 0.7555556 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCACGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 457 932 0.9993679 0.9975538 0.9984609 0.85 0.85 0.938905 0.9186686 NA NA 0.06046292 0.07888528 0.85 0.9287868 NA 0.0696741 NA FALSE NA 1 8.604 . missense_variant MODERATE ASPH HGNC 757 ENST00000541428 20/25 1 deleterious(0) benign(0.092) NA CAT A,G 8.236e-06 8:61553053 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 4.127261 0.99211 0.98855 0.706298 0.9873023 0 1.017662e-08 FALSE 4.06497e-06 ENSE00001481111_012 ENSE00001481111 012 8 62465555 62465724 - 35 90 45 T C 62465613 1312 112 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCGTGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553053 61553054 61553054 exon -24 0.7444444 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCGTGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 962 345 0.9777059 0.9985388 0.9881224 0.85 0.85 0.938905 0.9186686 NA NA 0.03880087 0.07987025 0.85 0.9287868 NA 0.05933556 NA FALSE NA 1 1.241 NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:61553054 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 2.777309 0.97287 0.83809 0.706298 0.9705334 0 1.017662e-08 FALSE 4.06511e-06 ENSE00001481111_013 ENSE00001481111 013 8 62465555 62465724 - 35 90 45 G T 62465615 1313 110 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGACATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553055 61553056 61553056 exon -26 0.7222222 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGACATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 52 42 0.8030943 0.8 0.8015472 0.85 0.85 0.938905 0.9186686 NA NA -0.1358107 -0.1186686 0.85 0.9287868 NA -0.1272396 NA FALSE NA 1 9.096 . missense_variant MODERATE ASPH HGNC 757 ENST00000541428 20/25 1 deleterious(0) possibly_damaging(0.82) NA GGC G,T 2.471e-05 8:61553056 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 6.996183 0.99413 0.99112 0.706298 0.998249 0 1.017662e-08 FALSE 1.62645e-05 ENSE00001481111_014 ENSE00001481111 014 8 62465555 62465724 - 35 90 45 C T 62465621 1314 104 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGAGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553061 61553062 61553062 exon -32 0.6555556 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGAGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 40 408 1 0.9999067 0.9999533 0.85 0.85 0.938905 0.9186686 NA NA 0.06109499 0.0812381 0.85 0.9287868 NA 0.07116654 NA FALSE NA 1 7.192 . missense_variant MODERATE ASPH HGNC 757 ENST00000541428 20/25 1 deleterious(0) probably_damaging(0.969) NA CCC C,T 8.236e-06 8:61553062 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 7.276198 0.99381 0.98235 0.706298 0.9980928 0 1.017662e-08 FALSE 4.06547e-06 ENSE00001481111_015 ENSE00001481111 015 8 62465555 62465724 - 35 90 45 G A 62465625 1315 100 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACTTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553065 61553066 61553066 exon -36 0.6111111 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACTTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 951 1441 0.6691856 0.7519745 0.71058 0.85 0.85 0.938905 0.9186686 NA NA -0.2697195 -0.1666941 0.85 0.9287868 NA -0.2182068 NA FALSE NA 1 1.442 . synonymous_variant LOW ASPH HGNC 757 ENST00000541428 20/25 1 NA AGG G,A 8.236e-06 8:61553066 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 synonymous_variant 1.06507 0.97202 0.84559 0.706298 0.7794186 0 1.017662e-08 FALSE 4.06587e-06 ENSE00001481111_016 ENSE00001481111 016 8 62465555 62465724 - 35 90 45 G A 62465626 1316 99 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCATCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553066 61553067 61553067 exon -37 0.6 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCATCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 171 853 0.005129911 0 0.002564956 0.85 0.85 0.938905 0.9186686 NA NA -0.9337751 -0.9186686 0.85 0.9287868 NA -0.9262218 NA TRUE NA 1 3.329 . synonymous_variant LOW ASPH HGNC 757 ENST00000541428 20/25 rs375608999 1 A:0.0006 A:0 A:0 NA A:0.002 A:0 A:0.001 A:0.0002 A:0 GGT G,A 7.413e-05 8:61553067 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 synonymous_variant 0.79546 0.97742 0.87795 0.706298 0.6408101 0 1.017662e-08 FALSE 0.00011384 ENSE00001481111_017 ENSE00001481111 017 8 62465555 62465724 - 35 90 45 G C 62465629 1317 96 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTGCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553069 61553070 61553070 exon -40 0.5666667 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTGCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 2036 444 0.9291469 0.9038567 0.9165018 0.85 0.85 0.938905 0.9186686 NA NA -0.009758114 -0.01481188 0.85 0.9287868 NA -0.012285 NA FALSE NA 1 1.655 . missense_variant MODERATE ASPH HGNC 757 ENST00000541428 20/25 COSM3669933 1 deleterious(0.02) benign(0.294) NA GGA G,C 8.236e-06 8:61553070 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 2.843126 0.97419 0.91715 0.706298 0.9930172 0 1.017662e-08 FALSE 4.06554e-06 ENSE00001481111_019 ENSE00001481111 019 8 62465555 62465724 - 35 90 45 C T 62465639 1319 86 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAAATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553079 61553080 61553080 exon 41 0.4555556 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAAATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 839 809 0.808813 0.8003125 0.8045628 0.85 0.85 0.938905 0.9186686 NA NA -0.130092 -0.118356 0.85 0.9287868 NA -0.124224 NA FALSE NA 0.926 7.192 . missense_variant MODERATE ASPH HGNC 757 ENST00000541428 20/25 1 tolerated(0.1) benign(0.14) NA TCT C,T 7.413e-05 8:61553080 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 3.899769 0.98878 0.97421 0.706298 0.9956148 0 1.017662e-08 FALSE 7.72427e-05 ENSE00001481111_020 ENSE00001481111 020 8 62465555 62465724 - 35 90 45 C G 62465646 1320 79 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATCATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553086 61553087 61553087 exon 34 0.3777778 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATCATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 587 80 0.8082309 0.8 0.8041154 0.85 0.85 0.938905 0.9186686 NA NA -0.1306741 -0.1186686 0.85 0.9287868 NA -0.1246714 NA FALSE NA 1 7.192 NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:61553087 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 6.550024 0.99412 0.98684 0.706298 0.996376 0 1.017662e-08 FALSE 4.06593e-06 ENSE00001481111_022 ENSE00001481111 022 8 62465555 62465724 - 35 90 45 C A 62465655 1322 70 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTTGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553095 61553096 61553096 exon 25 0.2777778 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTTGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 134 752 0.808385 0.9533986 0.8808918 0.85 0.85 0.938905 0.9186686 NA NA -0.13052 0.03473 0.85 0.9287868 NA -0.04789501 NA FALSE NA 1 7.192 . missense_variant MODERATE ASPH HGNC 757 ENST00000541428 20/25 1 deleterious(0) probably_damaging(0.984) NA CCA C,A 0.0001153 8:61553096 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 7.440261 0.99405 0.98601 0.706298 0.9971823 0 1.017662e-08 FALSE 9.35256e-05 ENSE00001481111_023 ENSE00001481111 023 8 62465555 62465724 - 35 90 45 G C 62465658 1323 67 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATGCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553098 61553099 61553099 exon 22 0.2444444 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATGCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 1230 527 0.9231339 0.8742797 0.8987068 0.85 0.85 0.938905 0.9186686 NA NA -0.01577107 -0.04438884 0.85 0.9287868 NA -0.03007996 NA FALSE NA 1 7.155 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:61553099 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003804713 missense_variant 2.881334 0.99423 0.98644 0.706298 0.9953255 0 1.017662e-08 FALSE 8.13412e-06 ENSE00001481111_024 ENSE00001481111 024 8 62465555 62465724 - 35 90 45 G A 62465658 1324 67 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATTCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 61553098 61553099 61553099 exon 22 0.2444444 TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATTCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA mutant NA NA NA NA NA 412 1044 0.8189026 0.7684484 0.7936755 0.85 0.85 0.938905 0.9186686 NA NA -0.1200024 -0.1502201 0.85 0.9287868 NA -0.1351113 NA FALSE NA 1 7.155 NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASPH NA NA NA ENSG00000198363 ENSE00003804713 missense_variant 4.863523 0.99397 0.98373 0.706298 0.998963 0 1.017662e-08 FALSE 4.06706e-06 ENSE00001481111_BRK ENSE00001481111 BRK 8 62465555 62465724 - 35 90 45 A,G; T,T NA NA NA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACTTGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGCCAATGGGTATATGAATTTCTGATTCTCTCTAACA 61552995 61553165 NA NA NA NA NA NA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACTTGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGCCAATGGGTATATGAATTTCTGATTCTCTCTAACA TGGTATTTAATTATTTTACCCATACTAACACTGTCCTTTCTACAGGAAGGAATAGAATCCGGAGATCCTGGCACTGATGATGGGAGATTTTATTTCCACCTGGGGGATGCCATGCAGAGGGTTGGGAACAAAGAGGTAATGGGTATATGAATTTCTGATTCTCTCTAACA control NA NA NA NA NA 355 1877 0 0.00136609 0.0006830448 0.85 0.85 0.938905 0.9186686 NA NA -0.938905 -0.9173025 0.85 0.9287868 NA -0.9281037 NA TRUE NA NA NA NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASPH NA NA NA ENSG00000198363 ENSE00003804713 NA NA NA NA NA NA NA 1.017662e-08 FALSE NA ENSE00001483044_000 ENSE00001483044 000 7 94028289 94028458 + 72 36 62 NA NA NA NA NA GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 NA NA NA NA NA NA GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC natural 58 57 0.9975639 0.9925316 0.9950477 5792 6875 0.9685803 0.95213 0.9603552 0.9975639 0.9925316 0.9685803 0.95213 0 0 0 0 0.9950477 0.9603552 0 0 0 FALSE FALSE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001483044 NA NA NA NA NA NA NA 0.9997549 TRUE NA ENSE00001483044_001 ENSE00001483044 001 7 94028289 94028458 + 72 36 62 C A 94028320 1512 32 GAATGATTTGTTTGTTCACTGGAAATTACTTATTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399007 94399008 94399008 upstr_intron -41 -0.5555556 GAATGATTTGTTTGTTCACTGGAAATTACTTATTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 1512 208 0.9922081 0.9604046 0.9763064 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.02362779 0.008274637 0.9950477 0.9603552 NA 0.01595121 NA FALSE NA 0 -0.389 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 3/51 rs371864333 1 NA A:0 A:0.0001 TCT C,A 5.765e-05 7:94399008 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 intron_variant 0.652217 0.24042 0.16752 0.053691 0.7455681 0.167921 0.9997549 TRUE 4.06283e-05 ENSE00001483044_002 ENSE00001483044 002 7 94028289 94028458 + 72 36 62 A C 94028331 1513 43 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTCTTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399018 94399019 94399019 upstr_intron -30 -0.4027778 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTCTTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 799 177 0.8323764 0.8 0.8161882 0.9975639 0.9925316 0.9685803 0.95213 NA NA -0.136204 -0.15213 0.9950477 0.9603552 NA -0.144167 NA FALSE NA 0.533 0.965 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 3/51 1 NA TAT A,C 8.236e-06 7:94399019 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 intron_variant 0.513064 0.21243 0.24844 0.053691 0.6385078 0.16523 0.9997549 TRUE 8.12433e-06 ENSE00001483044_003 ENSE00001483044 003 7 94028289 94028458 + 72 36 62 G C 94028346 1514 58 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTCTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399033 94399034 94399034 upstr_intron -15 -0.1944444 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTCTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 280 577 1 0.9993377 0.9996688 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.03141968 0.04720769 0.9950477 0.9603552 NA 0.03931368 NA FALSE NA 0.001 -0.65 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 3/51 1 NA TGT G,C 1.647e-05 7:94399034 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 intron_variant 0.507357 0.25949 0.11788 0.053691 0.565864 0.356257 0.9997549 TRUE 4.0618e-06 ENSE00001483044_005 ENSE00001483044 005 7 94028289 94028458 + 72 36 62 T G 94028356 1516 68 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCGGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399043 94399044 94399044 upstr_intron -5 -0.05555556 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCGGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 156 993 0.02042971 0.001018875 0.01072429 0.9975639 0.9925316 0.9685803 0.95213 NA NA -0.9481506 -0.9511111 0.9950477 0.9603552 NA -0.9496309 NA TRUE NA 0 0.023 . splice_region_variant&intron_variant LOW COL1A2 HGNC 2198 ENST00000297268 3/51 1 NA CTG T,G 3.295e-05 7:94399044 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 splice_region_variant 0.577556 0.46152 0.20238 0.053691 0.6328291 0.511867 0.9997549 TRUE 2.03077e-05 ENSE00001483044_006 ENSE00001483044 006 7 94028289 94028458 + 72 36 62 C T 94028369 1517 81 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCTGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399056 94399057 94399057 exon 9 0.25 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCTGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 20 19 0.955947 0.95 0.9529735 0.9975639 0.9925316 0.9685803 0.95213 NA NA -0.01263331 -0.002130009 0.9950477 0.9603552 NA -0.00738166 NA FALSE NA 0 -0.505 . synonymous_variant LOW COL1A2 HGNC 2198 ENST00000297268 4/52 rs533917998 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 8.236e-06 7:94399057 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 synonymous_variant 2.024053 0.20565 0.03898 0.706298 0.535048 0 0.9997549 TRUE 8.12341e-06 ENSE00001483044_008 ENSE00001483044 008 7 94028289 94028458 + 72 36 62 A G 94028376 1519 88 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATGGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399063 94399064 94399064 exon 16 0.4444444 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATGGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 485 471 0.9999151 0.9993278 0.9996215 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.0313348 0.04719784 0.9950477 0.9603552 NA 0.03926632 NA FALSE NA 1 4.009 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 4/52 1 unknown(0) NA TAG A,G 8.236e-06 7:94399064 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 missense_variant 3.242494 0.94832 0.91281 0.706298 0.9872926 0 0.9997549 TRUE 4.06138e-06 ENSE00001483044_009 ENSE00001483044 009 7 94028289 94028458 + 72 36 62 G C 94028380 1520 92 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGCACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399067 94399068 94399068 exon -17 0.5555556 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGCACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 376 2028 0.9806775 0.960444 0.9705608 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.01209721 0.008314015 0.9950477 0.9603552 NA 0.01020561 NA FALSE NA 1 8.004 . missense_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 4/52 1 unknown(0) NA GGA G,C 8.236e-06 7:94399068 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 missense_variant 4.116177 0.97831 0.97798 0.706298 0.9955053 0 0.9997549 TRUE 4.06154e-06 ENSE00001483044_013 ENSE00001483044 013 7 94028289 94028458 + 72 36 62 G A 94028395 1524 107 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAAGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399082 94399083 94399083 exon -2 0.9722222 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAAGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 550 422 1 0.9858733 0.9929367 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.03141968 0.03374332 0.9950477 0.9603552 NA 0.0325815 NA FALSE NA 1 3.463 . missense_variant&splice_region_variant MODERATE COL1A2 HGNC 2198 ENST00000297268 4/52 1 unknown(0) NA AGG G,A 8.236e-06 7:94399083 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 missense_variant 2.529343 0.96526 0.93002 0.706298 0.9668474 0 0.9997549 TRUE NA ENSE00001483044_014 ENSE00001483044 014 7 94028289 94028458 + 72 36 62 A G 94028403 1525 115 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTGATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399090 94399091 94399091 downstr_intron 7 1.114754 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTGATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 429 1169 0.8449831 0.9453681 0.8951756 0.9975639 0.9925316 0.9685803 0.95213 NA NA -0.1235973 -0.006761867 0.9950477 0.9603552 NA -0.06517956 NA FALSE NA 0.956 0.57 . splice_region_variant&intron_variant LOW COL1A2 HGNC 2198 ENST00000297268 4/51 1 NA TAA A,G 8.236e-06 7:94399091 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 splice_region_variant 1.831935 0.91263 0.78444 0.053691 0.880808 0.527454 0.9997549 TRUE 4.06171e-06 ENSE00001483044_016 ENSE00001483044 016 7 94028289 94028458 + 72 36 62 T C 94028416 1527 128 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTACAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399103 94399104 94399104 downstr_intron 20 1.327869 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTACAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 890 1045 0.8539282 0.9964635 0.9251959 0.9975639 0.9925316 0.9685803 0.95213 NA NA -0.1146521 0.0443335 0.9950477 0.9603552 NA -0.03515929 NA FALSE NA 0.002 0.154 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 4/51 1 NA ATA T,C 8.236e-06 7:94399104 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 intron_variant 1.643316 0.25666 0.24555 0.078448 0.6715961 0.303826 0.9997549 TRUE 1.62487e-05 ENSE00001483044_017 ENSE00001483044 017 7 94028289 94028458 + 72 36 62 G A 94028420 1528 132 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAAGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399107 94399108 94399108 downstr_intron 24 1.393443 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAAGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 225 724 1 0.9991014 0.9995507 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.03141968 0.04697136 0.9950477 0.9603552 NA 0.03919552 NA FALSE NA 0 0.154 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 4/51 1 NA AGG G,A 4.942e-05 7:94399108 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 intron_variant 1.5293 0.23208 0.08215 0.078448 0.7666784 0.300033 0.9997549 TRUE 4.06256e-05 ENSE00001483044_019 ENSE00001483044 019 7 94028289 94028458 + 72 36 62 C G 94028429 1530 141 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTGCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399116 94399117 94399117 downstr_intron 33 1.540984 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTGCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 530 98 0.9932072 0.9980344 0.9956208 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.02462687 0.04590437 0.9950477 0.9603552 NA 0.03526562 NA FALSE NA 0 -0.063 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 4/51 1 NA TCC C,G 8.236e-06 7:94399117 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 intron_variant -0.009105 0.28698 0.25374 0.053691 0.2875341 0.162044 0.9997549 TRUE 4.06435e-06 ENSE00001483044_020 ENSE00001483044 020 7 94028289 94028458 + 72 36 62 C A 94028431 1531 143 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCAGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 94399118 94399119 94399119 downstr_intron 35 1.57377 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCAGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 121 532 0.9996594 0.9992814 0.9994704 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.03107907 0.04715141 0.9950477 0.9603552 NA 0.03911524 NA FALSE NA 0.001 0.322 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 4/51 1 NA CCG C,A 1.647e-05 7:94399119 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 intron_variant 0.032304 0.32167 0.28327 0.053691 0.3693257 0.162044 0.9997549 TRUE 1.21991e-05 ENSE00001483044_022 ENSE00001483044 022 7 94028289 94028458 + 72 36 62 C G 94028444 1533 156 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAAGTATATGTTAGAAAC 94398976 94399146 94399131 94399132 94399132 downstr_intron 48 1.786885 GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAAGTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC mutant NA NA NA NA NA 1109 247 1 0.9930873 0.9965436 0.9975639 0.9925316 0.9685803 0.95213 NA NA 0.03141968 0.04095729 0.9950477 0.9603552 NA 0.03618848 NA FALSE NA 0 0.157 . intron_variant MODIFIER COL1A2 HGNC 2198 ENST00000297268 4/51 1 NA ACT C,G 8.236e-06 7:94399132 COL1A2 HGNC Symbol protein_coding 36671 ENSG00000164692 ENSE00001483044 intron_variant 0.005521 0.25011 0.17848 0.053691 0.1737677 0.163567 0.9997549 TRUE 4.06891e-06 ENSE00001483044_BRK ENSE00001483044 BRK 7 94028289 94028458 + 72 36 62 A,G; T,T NA NA NA GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTTTGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGCCGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC 94398976 94399146 NA NA NA NA NA NA GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTTTGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGCCGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC GAATGATTTGTTTGTTCACTGGAAATTACTTCTTAGGCATTTATTATTGTCCTGTTTGTATCTTTCCTGTAGGGCCCAGCCGGAGATAGAGGACCACGTGGAGAAAGGGTGTGTAATTTTTGAACTATAAAGGGCTTCGTCCCGTATTTGAATAACTATATGTTAGAAAC control 119 158 0.1956278 0 0.09781388 NA NA NA NA NA 0.9975639 0.9925316 0.9685803 0.95213 -0.8019361 -0.9925316 NA NA 0.9950477 0.9603552 -0.8972339 NA NA NA TRUE NA NA NA NA NA COL1A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A2 NA NA NA ENSG00000164692 ENSE00001483044 NA NA NA NA NA NA NA 0.9997549 TRUE NA ENSE00001483454_000 ENSE00001483454 000 12 52574265 52574434 - 32 96 42 NA NA NA NA NA GCTTGGCAAGACACTGGCCCCATCTCACTCACCTGCTCATAGATGGTTTTCATCAACTCCACGAAGCTCTCCAGGCTTTTTAACTTGGTTTCCAGTTCAGTCCGATGAAGACACTCTGCATCCAGGTCCTGGGGTTGGCAGCAGTGGTGAGTGGTGGGAGAGGGAATGGA 52180480 52180650 NA NA NA NA NA NA TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC natural 14 22 0.9968264 0.9997596 0.998293 310 2895 0.9895487 0.9467741 0.9681614 0.9968264 0.9997596 0.9895487 0.9467741 0 0 0 0 0.998293 0.9681614 0 0 0 FALSE FALSE NA NA NA NA NA KRT80 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT80 NA NA NA ENSG00000167767 ENSE00001483454 NA NA NA NA NA NA NA 5.430984e-05 FALSE NA ENSE00001484412_000 ENSE00001484412 000 9 20907105 20907274 + 44 93 33 NA NA NA NA NA TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 NA NA NA NA NA NA TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG natural 19 24 0.9930434 0.9692524 0.9811479 850 436 0.9870377 0.9894401 0.9882389 0.9930434 0.9692524 0.9870377 0.9894401 0 0 0 0 0.9811479 0.9882389 0 0 0 FALSE FALSE NA NA NA NA NA FOCAD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOCAD NA NA NA ENSG00000188352 ENSE00003667317 NA NA NA NA NA NA NA 5.372981e-16 FALSE NA ENSE00001484412_001 ENSE00001484412 001 9 20907105 20907274 + 44 93 33 A G 20907116 176 12 TAATACTGTGTGGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907116 20907117 20907117 upstr_intron -33 -0.7272727 TAATACTGTGTGGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 56 342 1 0.9602308 0.9801154 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.0129623 -0.02920935 0.9811479 0.9882389 NA -0.008123526 NA FALSE NA 0 -0.433 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 23/45 1 NA TAG A,G 2.472e-05 9:20907117 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 intron_variant 0.293551 0.18948 0.04609 0.295142 0.6018021 0.0455939 5.372981e-16 FALSE 2.47417e-05 ENSE00001484412_002 ENSE00001484412 002 9 20907105 20907274 + 44 93 33 A G 20907124 177 20 TAATACTGTGTAGCCTAATGTGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907124 20907125 20907125 upstr_intron -25 -0.5454545 TAATACTGTGTAGCCTAATGTGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 1380 228 0.8951954 0.9915638 0.9433796 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.09184235 0.002123715 0.9811479 0.9882389 NA -0.04485932 NA FALSE NA 0 -0.366 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 23/45 1 NA TAT A,G 4.119e-05 9:20907125 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 intron_variant -0.026465 0.21118 0.01854 0.295142 0.6581883 0.0455939 5.372981e-16 FALSE 4.50683e-05 ENSE00001484412_003 ENSE00001484412 003 9 20907105 20907274 + 44 93 33 T C 20907125 178 21 TAATACTGTGTAGCCTAATACGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907125 20907126 20907126 upstr_intron -24 -0.5227273 TAATACTGTGTAGCCTAATACGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 32 383 1 0.9716794 0.9858397 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.0129623 -0.01776077 0.9811479 0.9882389 NA -0.002399236 NA FALSE NA 0 0.195 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 23/45 1 NA ATG T,C 1.648e-05 9:20907126 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 intron_variant -0.057984 0.19297 0.05199 0.295142 0.6483503 0.0455939 5.372981e-16 FALSE 1.22879e-05 ENSE00001484412_004 ENSE00001484412 004 9 20907105 20907274 + 44 93 33 T C 20907133 179 29 TAATACTGTGTAGCCTAATATGTTGTGGCACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907133 20907134 20907134 upstr_intron -16 -0.3409091 TAATACTGTGTAGCCTAATATGTTGTGGCACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 232 644 0.8011237 0.8 0.8005618 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.185914 -0.1894401 0.9811479 0.9882389 NA -0.1876771 NA FALSE NA 0.004 0.749 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 23/45 1 NA GTA T,C 8.238e-06 9:20907134 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 intron_variant 0.36217 0.21789 0.08827 0.295142 0.7265301 0.129676 5.372981e-16 FALSE NA ENSE00001484412_005 ENSE00001484412 005 9 20907105 20907274 + 44 93 33 T C 20907141 180 37 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTCCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907141 20907142 20907142 upstr_intron -8 -0.1590909 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTCCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 3275 1018 0.9517811 0.941477 0.9466291 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.03525661 -0.0479631 0.9811479 0.9882389 NA -0.04160986 NA FALSE NA 0 0.114 . splice_region_variant&intron_variant LOW FOCAD HGNC 23377 ENST00000380249 23/45 1 NA TTC T,C 8.237e-06 9:20907142 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 splice_region_variant 0.504658 0.19125 0.05092 0.295142 0.669889 0.178087 5.372981e-16 FALSE 4.08183e-06 ENSE00001484412_006 ENSE00001484412 006 9 20907105 20907274 + 44 93 33 C T 20907142 181 38 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTTCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907142 20907143 20907143 upstr_intron -7 -0.1363636 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTTCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 190 881 0.9958105 0.9995669 0.9976887 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.008772845 0.01012673 0.9811479 0.9882389 NA 0.009449788 NA FALSE NA 0 0.457 . splice_region_variant&intron_variant LOW FOCAD HGNC 23377 ENST00000380249 23/45 rs201638336 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 TCC C,T 0.0001236 9:20907143 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 splice_region_variant 1.341765 0.22267 0.01361 0.295142 0.5720119 0.178087 5.372981e-16 FALSE 0.000110324 ENSE00001484412_008 ENSE00001484412 008 9 20907105 20907274 + 44 93 33 T C 20907154 183 50 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCACATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907154 20907155 20907155 exon 6 0.06451613 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCACATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 608 749 0.9975451 0.993109 0.9953271 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.01050743 0.003668891 0.9811479 0.9882389 NA 0.007088163 NA FALSE NA 0.898 -0.324 . synonymous_variant LOW FOCAD HGNC 23377 ENST00000380249 24/46 1 NA ATA T,C 3.295e-05 9:20907155 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 synonymous_variant -0.089122 0.93563 0.09823 0.706298 0.5629973 0 5.372981e-16 FALSE 2.85237e-05 ENSE00001484412_009 ENSE00001484412 009 9 20907105 20907274 + 44 93 33 C G 20907157 184 53 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATGCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907157 20907158 20907158 exon 9 0.09677419 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATGCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 743 1192 0.9540497 0.9839828 0.9690163 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.03298801 -0.005457276 0.9811479 0.9882389 NA -0.01922264 NA FALSE NA 1 0.905 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 24/46 1 possibly_damaging(0.453) NA TCC C,G 8.237e-06 9:20907158 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 4.714366 0.9735 0.78581 0.706298 0.9844023 0 5.372981e-16 FALSE 8.14976e-06 ENSE00001484412_010 ENSE00001484412 010 9 20907105 20907274 + 44 93 33 C T 20907165 185 61 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTTAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907165 20907166 20907166 exon 17 0.1827957 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTTAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 125 395 0.7667312 0.8 0.7833656 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.2203065 -0.1894401 0.9811479 0.9882389 NA -0.2048733 NA FALSE NA 0.401 1.313 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 24/46 1 benign(0.016) NA TCA C,T 8.237e-06 9:20907166 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 2.273141 0.52967 0.29061 0.706298 0.9902533 0 5.372981e-16 FALSE 1.22194e-05 ENSE00001484412_012 ENSE00001484412 012 9 20907105 20907274 + 44 93 33 G A 20907169 187 65 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAATGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907169 20907170 20907170 exon 21 0.2258065 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAATGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 317 43 0.8959998 0.9925904 0.9442951 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.09103786 0.003150285 0.9811479 0.9882389 NA -0.04394379 NA FALSE NA 1 1.273 . synonymous_variant LOW FOCAD HGNC 23377 ENST00000380249 24/46 rs371228089 1 NA A:0 A:0.0002 AGT G,A 1.647e-05 9:20907170 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 synonymous_variant 0.648241 0.9618 0.64061 0.706298 0.5068747 0 5.372981e-16 FALSE 2.44337e-05 ENSE00001484412_013 ENSE00001484412 013 9 20907105 20907274 + 44 93 33 C T 20907176 188 72 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACTGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907176 20907177 20907177 exon 28 0.3010753 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACTGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 88 369 0.5810917 0.4587432 0.5199175 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.405946 -0.5306969 0.9811479 0.9882389 NA -0.4683214 NA FALSE NA 1 5.012 rs188648560 missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 24/46 rs188648560&COSM3906541 1 probably_damaging(0.912) T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 T:0 T:0.0001 CCG C,T 1.647e-05 9:20907177 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 7.583359 0.98665 0.93779 0.706298 0.9993662 0 5.372981e-16 FALSE 3.25733e-05 ENSE00001484412_014 ENSE00001484412 014 9 20907105 20907274 + 44 93 33 G A 20907177 189 73 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCATGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907177 20907178 20907178 exon 29 0.311828 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCATGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 299 385 0.922292 0.9501705 0.9362312 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.0647457 -0.03926963 0.9811479 0.9882389 NA -0.05200767 NA FALSE NA 0.996 2.864 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 24/46 rs199581066&COSM1461734 1 benign(0.04) A:0.0004 A:0 A:0 NA A:0 A:0.001 A:0.001 A:0 A:0.0001 CGT G,A 7.413e-05 9:20907178 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 3.610392 0.97829 0.87169 0.706298 0.9977036 0 5.372981e-16 FALSE 7.32875e-05 ENSE00001484412_015 ENSE00001484412 015 9 20907105 20907274 + 44 93 33 A G 20907181 190 77 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCGATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907181 20907182 20907182 exon 33 0.3548387 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCGATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 334 51 0.8754584 1 0.9377292 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.1115793 0.01055988 0.9811479 0.9882389 NA -0.05050972 NA FALSE NA 0 -1.488 . synonymous_variant LOW FOCAD HGNC 23377 ENST00000380249 24/46 rs372178551 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CAA G,G 3.295e-05 9:20907182 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 synonymous_variant 0.308516 0.15115 0.02021 0.706298 0.3958501 0 5.372981e-16 FALSE 3.25653e-05 ENSE00001484412_016 ENSE00001484412 016 9 20907105 20907274 + 44 93 33 T C 20907189 191 85 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCCTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907189 20907190 20907190 exon 41 0.4408602 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCCTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 66 323 1 0.9931169 0.9965584 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.0129623 0.003676767 0.9811479 0.9882389 NA 0.008319531 NA FALSE NA 0.98 5.147 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 24/46 rs567258919 1 possibly_damaging(0.855) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTT T,C 8.237e-06 9:20907190 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 5.398177 0.96942 0.92195 0.706298 0.9990042 0 5.372981e-16 FALSE NA ENSE00001484412_017 ENSE00001484412 017 9 20907105 20907274 + 44 93 33 A T 20907193 192 89 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCTCAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907193 20907194 20907194 exon 45 0.483871 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCTCAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 343 495 0.9447164 1 0.9723582 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.04232135 0.01055988 0.9811479 0.9882389 NA -0.01588074 NA FALSE NA 0.117 -0.695 . synonymous_variant LOW FOCAD HGNC 23377 ENST00000380249 24/46 1 NA CAC A,T 8.237e-06 9:20907194 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 synonymous_variant -0.713924 0.82477 0.07829 0.706298 0.5904738 0 5.372981e-16 FALSE 4.06928e-06 ENSE00001484412_019 ENSE00001484412 019 9 20907105 20907274 + 44 93 33 C T 20907198 194 94 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGTCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907198 20907199 20907199 exon -44 0.5376344 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGTCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 488 20 0.9026191 0.8 0.8513096 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.08441859 -0.1894401 0.9811479 0.9882389 NA -0.1369294 NA FALSE NA 1 2.516 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 24/46 1 benign(0.231) NA GCC C,T 1.647e-05 9:20907199 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 4.947037 0.98665 0.8879 0.706298 0.9984041 0 5.372981e-16 FALSE 8.13789e-06 ENSE00001484412_021 ENSE00001484412 021 9 20907105 20907274 + 44 93 33 A G 20907208 196 104 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCGTACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907208 20907209 20907209 exon -34 0.6451613 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCGTACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 416 536 1 0.9945774 0.9972887 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.0129623 0.005137295 0.9811479 0.9882389 NA 0.009049796 NA FALSE NA 0.048 -1.139 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:20907209 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 synonymous_variant 0.324458 0.67363 0.05444 0.706298 0.4184585 0 5.372981e-16 FALSE 0.000207471 ENSE00001484412_022 ENSE00001484412 022 9 20907105 20907274 + 44 93 33 A C 20907208 197 104 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCCTACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907208 20907209 20907209 exon -34 0.6451613 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCCTACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 1239 465 0.9936638 0.997675 0.9956694 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.006626092 0.008234852 0.9811479 0.9882389 NA 0.007430472 NA FALSE NA 0.048 -1.139 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOCAD NA NA NA ENSG00000188352 ENSE00003667317 synonymous_variant -0.375778 0.68266 0.06552 0.706298 0.4390821 0 5.372981e-16 FALSE 0.000231879 ENSE00001484412_023 ENSE00001484412 023 9 20907105 20907274 + 44 93 33 C G 20907218 198 114 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATGGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907218 20907219 20907219 exon -24 0.7526882 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATGGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 1082 852 0.9990069 0.9959711 0.997489 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.01196918 0.00653101 0.9811479 0.9882389 NA 0.009250094 NA FALSE NA 0.956 1.962 NA NA NA FOCAD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:20907219 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 5.945769 0.95122 0.76363 0.706298 0.997093 0 5.372981e-16 FALSE 4.06822e-06 ENSE00001484412_027 ENSE00001484412 027 9 20907105 20907274 + 44 93 33 C A 20907231 202 127 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGACATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907231 20907232 20907232 exon -11 0.8924731 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGACATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 863 520 0.9837409 0.9940734 0.9889071 0.9930434 0.9692524 0.9870377 0.9894401 NA NA -0.00329684 0.00463325 0.9811479 0.9882389 NA 0.0006682051 NA FALSE NA 0.998 5.012 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 24/46 rs200955578 1 probably_damaging(0.998) NA GCC C,A 8.236e-06 9:20907232 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 6.837045 0.98695 0.94979 0.706298 0.9978672 0 5.372981e-16 FALSE 4.06835e-06 ENSE00001484412_028 ENSE00001484412 028 9 20907105 20907274 + 44 93 33 T A 20907236 203 132 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTATACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907236 20907237 20907237 exon -6 0.9462366 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTATACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 596 83 1 0.9723479 0.9861739 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.0129623 -0.01709224 0.9811479 0.9882389 NA -0.002064973 NA FALSE NA 0.979 0.653 . missense_variant MODERATE FOCAD HGNC 23377 ENST00000380249 24/46 rs376500027&COSM240386 1 benign(0.156) NA A:0 A:0.0002 TTT T,A 9.06e-05 9:20907237 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 missense_variant 1.905342 0.84764 0.66804 0.706298 0.990522 0 5.372981e-16 FALSE 8.95e-05 ENSE00001484412_030 ENSE00001484412 030 9 20907105 20907274 + 44 93 33 C A 20907254 205 150 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCAAAGGATAGGTTTGCTTTGGCG 20907105 20907275 20907254 20907255 20907255 downstr_intron 13 1.40625 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCAAAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 78 744 1 0.9974535 0.9987268 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.0129623 0.008013397 0.9811479 0.9882389 NA 0.01048785 NA FALSE NA 0 -1.215 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 24/45 1 NA ACA C,A 8.236e-06 9:20907255 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 intron_variant 0.019937 0.17859 0.05638 0.062308 0.516722 0.0582165 5.372981e-16 FALSE 4.07222e-06 ENSE00001484412_031 ENSE00001484412 031 9 20907105 20907274 + 44 93 33 G A 20907257 206 153 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGAATAGGTTTGCTTTGGCG 20907105 20907275 20907257 20907258 20907258 downstr_intron 16 1.5 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGAATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 651 509 1 0.9987947 0.9993973 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.0129623 0.009354547 0.9811479 0.9882389 NA 0.01115842 NA FALSE NA 0 -0.242 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 24/45 1 NA GGA G,A 8.237e-06 9:20907258 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 intron_variant -0.034073 0.188 0.03574 0.062308 0.4249591 0.0582165 5.372981e-16 FALSE 4.07571e-06 ENSE00001484412_032 ENSE00001484412 032 9 20907105 20907274 + 44 93 33 G C 20907261 207 157 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATACGTTTGCTTTGGCG 20907105 20907275 20907261 20907262 20907262 downstr_intron 20 1.625 TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATACGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG mutant NA NA NA NA NA 413 630 1 0.905736 0.952868 0.9930434 0.9692524 0.9870377 0.9894401 NA NA 0.0129623 -0.08370414 0.9811479 0.9882389 NA -0.03537092 NA FALSE NA 0 -0.332 . intron_variant MODIFIER FOCAD HGNC 23377 ENST00000380249 24/45 rs200865973 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 AGG G,C 8.237e-06 9:20907262 FOCAD HGNC Symbol protein_coding 337646 ENSG00000188352 ENSE00003667317 intron_variant -0.410591 0.20881 0.04127 0.062308 0.3615692 0.0440564 5.372981e-16 FALSE 4.08817e-06 ENSE00001484412_BRK ENSE00001484412 BRK 9 20907105 20907274 + 44 93 33 A,G; T,T NA NA NA TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATTTGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGCCAATGAAACCACAGGATAGGTTTGCTTTGGCG 20907105 20907275 NA NA NA NA NA NA TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATTTGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGCCAATGAAACCACAGGATAGGTTTGCTTTGGCG TAATACTGTGTAGCCTAATATGTTGTGGTACATTTTTCCCATAGGTTCATATCCAGCTTTCAGAGTGGCACCGTGCAATTTTTCTTCCACAGGCCTGGCTTGCATACATGAATCGAGCTTATCATGCCATTTTACAGGTAATGAAACCACAGGATAGGTTTGCTTTGGCG control 43 383 0 0 0 1780 784 0.001012671 0.03567826 0.01834547 0.9930434 0.9692524 0.9870377 0.9894401 -0.9930434 -0.9692524 -0.986025 -0.9537619 0.9811479 0.9882389 -0.9811479 -0.9698934 0.01125446 TRUE TRUE NA NA NA NA NA FOCAD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FOCAD NA NA NA ENSG00000188352 ENSE00003667317 NA NA NA NA NA NA NA 5.372981e-16 FALSE NA ENSE00001485402_000 ENSE00001485402 000 11 2972438 2972607 - 51 57 62 NA NA NA NA NA TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 NA NA NA NA NA NA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA natural NA NA NA NA NA 1405 1035 0.994057 0.9970516 0.9955543 NA NA 0.994057 0.9970516 NA NA 0 0 NA 0.9955543 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAP1L4 NA NA NA ENSG00000205531 ENSE00003647775 NA NA NA NA NA NA NA 0.995731 TRUE NA ENSE00001485402_003 ENSE00001485402 003 11 2972438 2972607 - 51 57 62 A G 2972454 56 154 TCTAAGAGTGCAGCATGATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951223 2951224 2951224 downstr_intron 35 1.7 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATCATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 51 583 1 1 1 NA NA 0.994057 0.9970516 NA NA 0.005942961 0.002948442 NA 0.9955543 NA 0.004445702 NA FALSE NA 0 -0.84 NA NA NA NAP1L4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:2951224 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant 0.142356 0.12699 0.04343 0.295142 0.5936144 0.0495094 0.995731 TRUE 4.90709e-05 ENSE00001485402_005 ENSE00001485402 005 11 2972438 2972607 - 51 57 62 G A 2972462 58 146 TCTAAGAGTGCAGCATAATAAGTAAGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951231 2951232 2951232 downstr_intron 27 1.54 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACTTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 474 233 0.9987781 0.9990139 0.998896 NA NA 0.994057 0.9970516 NA NA 0.004721079 0.001962378 NA 0.9955543 NA 0.003341728 NA FALSE NA 0 0.086 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs369167728 1 NA A:0 A:0.0001 AGG G,A 8.275e-06 11:2951232 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant 0.204548 0.19001 0.06647 0.295142 0.6072033 0.0502563 0.995731 TRUE 4.07083e-06 ENSE00001485402_006 ENSE00001485402 006 11 2972438 2972607 - 51 57 62 T C 2972464 59 144 TCTAAGAGTGCAGCATAATAAGTAGGCCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951233 2951234 2951234 downstr_intron 25 1.5 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGGCCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 26 142 1 1 1 NA NA 0.994057 0.9970516 NA NA 0.005942961 0.002948442 NA 0.9955543 NA 0.004445702 NA FALSE NA 0 -1.736 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs200497985 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 GTC T,C 3.31e-05 11:2951234 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant 0.110386 0.14656 0.02453 0.295142 0.4445506 0.0502563 0.995731 TRUE 2.84847e-05 ENSE00001485402_008 ENSE00001485402 008 11 2972438 2972607 - 51 57 62 G A 2972468 61 140 TCTAAGAGTGCAGCATAATAAGTAGGTCTGAGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951237 2951238 2951238 downstr_intron 21 1.42 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACTCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 476 52 1 0.9663083 0.9831541 NA NA 0.994057 0.9970516 NA NA 0.005942961 -0.0307433 NA 0.9955543 NA -0.01240017 NA FALSE NA 0 0.193 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA GGG G,A 8.275e-06 11:2951238 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant 0.234617 0.23874 0.0422 0.295142 0.7530268 0.0502563 0.995731 TRUE 8.14074e-06 ENSE00001485402_010 ENSE00001485402 010 11 2972438 2972607 - 51 57 62 G C 2972494 63 114 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGCGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951263 2951264 2951264 exon -6 0.9122807 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACGCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 17 825 1 0.9994445 0.9997223 NA NA 0.994057 0.9970516 NA NA 0.005942961 0.002392961 NA 0.9955543 NA 0.004167961 NA FALSE NA 1 7.018 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA GGG G,C 8.275e-06 11:2951264 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 missense_variant 2.762814 0.9524 0.94438 0.730579 0.9766982 0 0.995731 TRUE 4.06339e-06 ENSE00001485402_011 ENSE00001485402 011 11 2972438 2972607 - 51 57 62 C T 2972504 64 104 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCTGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951273 2951274 2951274 exon -16 0.7368421 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCAGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 1566 790 0.9986953 1 0.9993476 NA NA 0.994057 0.9970516 NA NA 0.004638224 0.002948442 NA 0.9955543 NA 0.003793333 NA FALSE NA 0.253 -1.473 rs140246404 downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs140246404 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 CCG C,T 5.793e-05 11:2951274 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 synonymous_variant 1.678377 0.11019 0.03119 0.730579 0.8724041 0 0.995731 TRUE 6.5001e-05 ENSE00001485402_012 ENSE00001485402 012 11 2972438 2972607 - 51 57 62 G A 2972505 65 103 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCACATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951274 2951275 2951275 exon -17 0.7192982 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGTGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 139 769 0.8 0.7207148 0.7603574 NA NA 0.994057 0.9970516 NA NA -0.194057 -0.2763367 NA 0.9955543 NA -0.2351969 NA FALSE NA 0.934 3.274 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs200179608 1 NA A:0.0003 A:0.0001 CGC G,A 8.275e-05 11:2951275 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 missense_variant 2.996159 0.8916 0.81687 0.730579 0.9253269 0 0.995731 TRUE 8.12526e-05 ENSE00001485402_013 ENSE00001485402 013 11 2972438 2972607 - 51 57 62 C T 2972506 66 102 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGTATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951275 2951276 2951276 exon -18 0.7017544 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATACGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 149 863 1 0.9989792 0.9994896 NA NA 0.994057 0.9970516 NA NA 0.005942961 0.001927688 NA 0.9955543 NA 0.003935325 NA FALSE NA 0.936 1.45 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA GCA C,T 8.276e-06 11:2951276 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 missense_variant 2.580289 0.87025 0.63585 0.730579 0.9401196 0 0.995731 TRUE 4.06197e-06 ENSE00001485402_014 ENSE00001485402 014 11 2972438 2972607 - 51 57 62 C T 2972515 67 93 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTTGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951284 2951285 2951285 exon -27 0.5438596 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACAAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 75 216 1 1 1 NA NA 0.994057 0.9970516 NA NA 0.005942961 0.002948442 NA 0.9955543 NA 0.004445702 NA FALSE NA 0.998 5.599 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs368801317 1 NA T:0 T:0.0001 TCG C,T 8.276e-06 11:2951285 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 missense_variant 4.988394 0.95 0.92107 0.730579 0.9974283 0 0.995731 TRUE 8.12387e-06 ENSE00001485402_016 ENSE00001485402 016 11 2972438 2972607 - 51 57 62 T C 2972526 69 82 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCCCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951295 2951296 2951296 exon 20 0.3508772 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGGGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 129 24 0.95 0.95 0.95 NA NA 0.994057 0.9970516 NA NA -0.04405704 -0.04705156 NA 0.9955543 NA -0.0455543 NA FALSE NA 1 5.755 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA CTC T,C 8.276e-06 11:2951296 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 missense_variant 4.916972 0.94118 0.91909 0.730579 0.9954268 0 0.995731 TRUE 8.12348e-06 ENSE00001485402_019 ENSE00001485402 019 11 2972438 2972607 - 51 57 62 T C 2972537 72 71 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCCTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951306 2951307 2951307 exon 9 0.1578947 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAGGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 95 211 1 0.9953596 0.9976798 NA NA 0.994057 0.9970516 NA NA 0.005942961 -0.001691971 NA 0.9955543 NA 0.002125495 NA FALSE NA 1 1.342 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs376933138 1 NA C:0.0003 C:0 CTT T,C 3.311e-05 11:2951307 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 synonymous_variant 0.292651 0.89321 0.68658 0.730579 0.7927468 0 0.995731 TRUE 1.219e-05 ENSE00001485402_020 ENSE00001485402 020 11 2972438 2972607 - 51 57 62 C G 2972539 73 69 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTGTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951308 2951309 2951309 exon 7 0.122807 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTACAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 23 71 1 1 1 NA NA 0.994057 0.9970516 NA NA 0.005942961 0.002948442 NA 0.9955543 NA 0.004445702 NA FALSE NA 1 5.066 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA TCT C,G 5.794e-05 11:2951309 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 missense_variant 3.196215 0.94659 0.9237 0.730579 0.9846062 0 0.995731 TRUE 4.87484e-05 ENSE00001485402_022 ENSE00001485402 022 11 2972438 2972607 - 51 57 62 A G 2972568 75 40 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTGGCTGGAATGACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951337 2951338 2951338 upstr_intron -23 -0.3548387 TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCCAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 81 13 0.9807457 0.95 0.9653728 NA NA 0.994057 0.9970516 NA NA -0.01331137 -0.04705156 NA 0.9955543 NA -0.03018146 NA FALSE NA 0.001 -0.083 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA TAG A,G 8.277e-06 11:2951338 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant 0.435022 0.1819 0.03058 0.156188 0.7558701 0.0702732 0.995731 TRUE 4.06481e-06 ENSE00001485402_023 ENSE00001485402 023 11 2972438 2972607 - 51 57 62 G A 2972577 76 31 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATAACAAGATTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951346 2951347 2951347 upstr_intron -32 -0.5 TTGTGAATGCCACAAGAGTTTAAATCTTGTTATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 172 154 1 1 1 NA NA 0.994057 0.9970516 NA NA 0.005942961 0.002948442 NA 0.9955543 NA 0.004445702 NA FALSE NA 0 -0.464 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs371308395 1 NA A:0.0005 A:0 TGA G,A 1.655e-05 11:2951347 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant 0.337423 0.16246 0.05263 0.156188 0.8381483 0.111546 0.995731 TRUE 1.62689e-05 ENSE00001485402_024 ENSE00001485402 024 11 2972438 2972607 - 51 57 62 T C 2972584 77 24 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGACTTAAACTCTTGTGGCATTCACAA 2951207 2951377 2951353 2951354 2951354 upstr_intron -39 -0.6129032 TTGTGAATGCCACAAGAGTTTAAGTCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 534 517 0.9985265 1 0.9992632 NA NA 0.994057 0.9970516 NA NA 0.00446943 0.002948442 NA 0.9955543 NA 0.003708936 NA FALSE NA 0 -2.827 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA ATT T,C 8.276e-06 11:2951354 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant -0.120939 0.08193 0.00755 0.156188 0.5889793 0.0825251 0.995731 TRUE 4.06828e-06 ENSE00001485402_026 ENSE00001485402 026 11 2972438 2972607 - 51 57 62 A G 2972587 79 21 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTGAACTCTTGTGGCATTCACAA 2951207 2951377 2951356 2951357 2951357 upstr_intron -42 -0.6612903 TTGTGAATGCCACAAGAGTTCAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 77 305 1 1 1 NA NA 0.994057 0.9970516 NA NA 0.005942961 0.002948442 NA 0.9955543 NA 0.004445702 NA FALSE NA 0 0.415 NA NA NA NAP1L4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:2951357 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant 0.035479 0.14444 0.03457 0.156188 0.630548 0.0825251 0.995731 TRUE 4.06944e-06 ENSE00001485402_027 ENSE00001485402 027 11 2972438 2972607 - 51 57 62 C A 2972592 80 16 TCTAAGAGTGCAGCATAATAAGTAGGTCTGGGTGGCCCCAAAGTTACCAACCTTGGGGTTAATTTCCGCATCATCCTCGTCTTCTCCCTCCTCGTCACCTTCTAATTCCTGTATTTAAAAAGTGAGAATTAGCTGGAATGACAAGATTTAAACTATTGTGGCATTCACAA 2951207 2951377 2951361 2951362 2951362 upstr_intron -47 -0.7419355 TTGTGAATGCCACAATAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA TTGTGAATGCCACAAGAGTTTAAATCTTGTCATTCCAGCTAATTCTCACTTTTTAAATACAGGAATTAGAAGGTGACGAGGAGGGAGAAGACGAGGATGATGCGGAAATTAACCCCAAGGTTGGTAACTTTGGGGCCACCCAGACCTACTTATTATGCTGCACTCTTAGA mutant NA NA NA NA NA 1241 116 0.9944877 0.9860878 0.9902877 NA NA 0.994057 0.9970516 NA NA 0.0004306372 -0.01096373 NA 0.9955543 NA -0.005266549 NA FALSE NA 0 -0.356 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs377624301 1 NA A:0 A:0.0001 TCT C,A 8.276e-06 11:2951362 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00003647775 intron_variant 0.503382 0.1332 0.01924 0.156188 0.6803648 0.0825251 0.995731 TRUE 4.079e-06 ENSE00001485415_000 ENSE00001485415 000 11 2992642 2992811 - 36 87 47 NA NA NA NA NA AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 NA NA NA NA NA NA TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT natural 15 21 1 0.9978018 0.9989009 3449 3774 0.9782387 0.947713 0.9629758 1 0.9978018 0.9782387 0.947713 0 0 0 0 0.9989009 0.9629758 0 0 0 FALSE FALSE NA NA NA NA NA NAP1L4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAP1L4 NA NA NA ENSG00000205531 ENSE00001485415 NA NA NA NA NA NA NA 0.995731 TRUE NA ENSE00001485415_001 ENSE00001485415 001 11 2992642 2992811 - 36 87 47 G A 2992653 92 159 AAACAGAACATAAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971422 2971423 2971423 downstr_intron 25 1.714286 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTTATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 21 103 0.9980237 0.9898618 0.9939427 1 0.9978018 0.9782387 0.947713 NA NA 0.01978496 0.04214885 0.9989009 0.9629758 NA 0.0309669 NA FALSE NA 0 -2.015 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 1 NA TGA G,A 8.279e-06 11:2971423 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 intron_variant -0.464153 0.06198 0.00278 0.295142 0.4701165 0.046875 0.995731 TRUE 4.09269e-06 ENSE00001485415_002 ENSE00001485415 002 11 2992642 2992811 - 36 87 47 T C 2992661 93 151 AAACAGAACATGAGTCACACGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971430 2971431 2971431 downstr_intron 17 1.485714 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACGTGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 185 350 0.9956952 1 0.9978476 1 0.9978018 0.9782387 0.947713 NA NA 0.01745651 0.05228704 0.9989009 0.9629758 NA 0.03487178 NA FALSE NA 0 -0.344 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 1 NA ATG T,C 1.656e-05 11:2971431 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 intron_variant -0.330992 0.06411 0.0112 0.295142 0.3033571 0.046875 0.995731 TRUE 2.03935e-05 ENSE00001485415_004 ENSE00001485415 004 11 2992642 2992811 - 36 87 47 C A 2992687 95 125 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTATCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971456 2971457 2971457 exon -10 0.8965517 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGATAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 942 443 0.9948433 1 0.9974217 1 0.9978018 0.9782387 0.947713 NA NA 0.01660461 0.05228704 0.9989009 0.9629758 NA 0.03444583 NA FALSE NA 0 -2.218 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 1 NA TCT C,A 8.278e-06 11:2971457 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 missense_variant -0.274065 0.19329 0.06817 0.706548 0.7548436 0 0.995731 TRUE 1.21992e-05 ENSE00001485415_005 ENSE00001485415 005 11 2992642 2992811 - 36 87 47 T G 2992690 96 122 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCGTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971459 2971460 2971460 exon -13 0.862069 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGACGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 333 350 0.9837363 1 0.9918682 1 0.9978018 0.9782387 0.947713 NA NA 0.005497637 0.05228704 0.9989009 0.9629758 NA 0.02889234 NA FALSE NA 0.78 -0.139 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 1 NA CTT T,G 8.278e-06 11:2971460 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 missense_variant 0.610807 0.96519 0.85818 0.706548 0.952349 0 0.995731 TRUE 8.13121e-06 ENSE00001485415_006 ENSE00001485415 006 11 2992642 2992811 - 36 87 47 C T 2992693 97 119 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCTTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971462 2971463 2971463 exon -16 0.8275862 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAAGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 153 712 1 0.9991942 0.9995971 1 0.9978018 0.9782387 0.947713 NA NA 0.02176129 0.05148123 0.9989009 0.9629758 NA 0.03662126 NA FALSE NA 0.065 -0.769 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 rs375996878 1 NA T:0 T:0.0001 CCT C,T 8.278e-06 11:2971463 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 synonymous_variant 1.65617 0.96528 0.25911 0.706548 0.4445672 0 0.995731 TRUE 8.13127e-06 ENSE00001485415_007 ENSE00001485415 007 11 2992642 2992811 - 36 87 47 T C 2992701 98 111 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATCTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971470 2971471 2971471 exon -24 0.7356322 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAGATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 181 109 1 1 1 1 0.9978018 0.9782387 0.947713 NA NA 0.02176129 0.05228704 0.9989009 0.9629758 NA 0.03702417 NA FALSE NA 0.001 1.485 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 rs367863841 1 NA C:0.0003 C:0 TTT T,C 1.656e-05 11:2971471 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 missense_variant -0.638689 0.22768 0.20087 0.706548 0.8781747 0 0.995731 TRUE 3.25172e-05 ENSE00001485415_008 ENSE00001485415 008 11 2992642 2992811 - 36 87 47 C T 2992717 99 95 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCTGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971486 2971487 2971487 exon -40 0.5517241 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCAGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 150 193 0.99945 1 0.999725 1 0.9978018 0.9782387 0.947713 NA NA 0.02121128 0.05228704 0.9989009 0.9629758 NA 0.03674916 NA FALSE NA 0.005 -1.193 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 1 NA CCG C,T 2.483e-05 11:2971487 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 synonymous_variant 1.889213 0.24052 0.03381 0.706548 0.6269565 0 0.995731 TRUE 2.43952e-05 ENSE00001485415_010 ENSE00001485415 010 11 2992642 2992811 - 36 87 47 C T 2992723 101 89 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCTGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971492 2971493 2971493 exon 42 0.4827586 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCAGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 201 106 0.9814284 1 0.9907142 1 0.9978018 0.9782387 0.947713 NA NA 0.003189673 0.05228704 0.9989009 0.9629758 NA 0.02773836 NA FALSE NA 0.011 -1.298 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 1 NA CCG C,T 8.278e-06 11:2971493 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 synonymous_variant 2.051975 0.95093 0.08088 0.706548 0.6229828 0 0.995731 TRUE 4.0657e-06 ENSE00001485415_011 ENSE00001485415 011 11 2992642 2992811 - 36 87 47 A T 2992739 102 73 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCATCATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971508 2971509 2971509 exon 26 0.2988506 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGATGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 71 48 0.9964695 0.9595997 0.9780346 1 0.9978018 0.9782387 0.947713 NA NA 0.01823076 0.01188671 0.9989009 0.9629758 NA 0.01505873 NA FALSE NA 0.033 1.594 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 rs558161309 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 AAC A,T 8.28e-06 11:2971509 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 missense_variant 3.174519 0.21175 0.21994 0.706548 0.9669028 0 0.995731 TRUE 4.06745e-06 ENSE00001485415_015 ENSE00001485415 015 11 2992642 2992811 - 36 87 47 G A 2992748 106 64 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGATGATAAATTCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971517 2971518 2971518 exon 17 0.1954023 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCATCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 83 222 1 1 1 1 0.9978018 0.9782387 0.947713 NA NA 0.02176129 0.05228704 0.9989009 0.9629758 NA 0.03702417 NA FALSE NA 0.555 0.517 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 rs200092825&COSM1739811 1 NA A:0.0003 A:0.0004 GGT G,A 0.0001987 11:2971518 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 missense_variant 1.610243 0.95267 0.80569 0.706548 0.9773498 0 0.995731 TRUE 0.000183164 ENSE00001485415_016 ENSE00001485415 016 11 2992642 2992811 - 36 87 47 T G 2992757 107 55 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATGCTCTTCTCTACATAAAAATGAGACCTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971526 2971527 2971527 exon 8 0.09195402 TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGCATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant NA NA NA NA NA 962 20 0.9362599 0.9899647 0.9631123 1 0.9978018 0.9782387 0.947713 NA NA -0.04197881 0.04225179 0.9989009 0.9629758 NA 0.0001364893 NA FALSE NA 1 7.23 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 1 NA TTC T,G 8.28e-06 11:2971527 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 missense_variant 2.990799 0.99087 0.9938 0.706548 0.9947029 0 0.995731 TRUE 8.14485e-06 ENSE00001485415_019 ENSE00001485415 019 11 2992642 2992811 - 36 87 47 C G 2992782 110 30 AAACAGAACATGAGTCACATGTTTCTAAAGACTTACAGCCAATTTCTCTTCCTCTTCATTTTCACTGTGCCATTCCGATTCCGCATCTGTTGGTTCAACATCGCCGGTGATAAATTCTCTTCTCTACATAAAAATGAGACGTTATTAGAATTATGTTATTAGCTTACTTA 2971411 2971581 2971551 2971552 2971552 upstr_intron -18 -0.3617021 TAAGTAAGCTAATAACATAATTCTAATAACGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT TAAGTAAGCTAATAACATAATTCTAATAAGGTCTCATTTTTATGTAGAGAAGAGAATTTATCACCGGCGATGTTGAACCAACAGATGCGGAATCGGAATGGCACAGTGAAAATGAAGAGGAAGAGAAATTGGCTGTAAGTCTTTAGAAACATGTGACTCATGTTCTGTTT mutant 11 13 1 1 1 NA NA NA NA NA 1 0.9978018 0.9782387 0.947713 0 0.002198178 NA NA 0.9989009 0.9629758 0.001099089 NA NA NA FALSE 0 -0.533 . downstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000455338 1 NA CCT C,G 8.28e-06 11:2971552 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001485415 intron_variant -0.300238 0.13982 0.02523 0.099367 0.4635962 0.046875 0.995731 TRUE 4.11614e-06 ENSE00001487205_000 ENSE00001487205 000 19 8613082 8613251 - 39 81 50 NA NA NA NA NA TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT 8548197 8548367 NA NA NA NA NA NA TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT natural NA NA NA NA NA 198 677 1 0.9971863 0.9985931 NA NA 1 0.9971863 NA NA 0 0 NA 0.9985931 NA 0 NA FALSE NA NA NA NA NA NA MYO1F NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1F NA NA NA ENSG00000142347 ENSE00003672169 NA NA NA NA NA NA NA 0.1580222 FALSE NA ENSE00001487205_002 ENSE00001487205 002 19 8613082 8613251 - 39 81 50 C T 8613116 751 136 AGGGAGGACAGGATGTGGGCTGGAGGCAGGGGGCTGTACCTGGAAGATCTCGAAGCCGTAAATGTCCAGCACACCGATGCTGTACTCTTCCTGGGGTTTCTGCATAGCACGGTTGATGGCCTGCGGTGTGGGTGGGGACAGGAAGTCAGTGGGCATCGGTCAGATCTGAA 8548197 8548367 8548231 8548232 8548232 downstr_intron 5 1.131579 TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACAGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT mutant NA NA NA NA NA 32 13 0.9646724 1 0.9823362 NA NA 1 0.9971863 NA NA -0.03532758 0.002813713 NA 0.9985931 NA -0.01625694 NA FALSE NA 0 -0.407 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MYO1F HGNC 7600 ENST00000600825 2/2 1 NA CCG C,T 3.308e-05 19:8548232 MYO1F HGNC Symbol protein_coding 56787 ENSG00000142347 ENSE00003672169 splice_region_variant 0.571409 0.22751 0.08094 0.162113 0.7647796 0.070412 0.1580222 FALSE 4.06114e-05 ENSE00001487205_007 ENSE00001487205 007 19 8613082 8613251 - 39 81 50 C G 8613137 756 115 TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGCCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT 8548197 8548367 8548252 8548253 8548253 exon -17 0.8024691 TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGCCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT mutant NA NA NA NA NA 32 728 1 1 1 NA NA 1 0.9971863 NA NA 0 0.002813713 NA 0.9985931 NA 0.001406857 NA FALSE NA 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MYO1F HGNC 7600 ENST00000600825 2/3 1 NA GCC C,G 8.267e-06 19:8548253 MYO1F HGNC Symbol protein_coding 56787 ENSG00000142347 ENSE00003672169 missense_variant 5.604838 0.99344 0.9923 0.615465 0.9980664 0 0.1580222 FALSE 4.06098e-06 ENSE00001487205_009 ENSE00001487205 009 19 8613082 8613251 - 39 81 50 C T 8613156 758 96 AGGGAGGACAGGATGTGGGCTGGAGGCAGGGGGCCGTACCTGGAAGATCTCGAAGCCGTAAATGTCCAGCACACTGATGCTGTACTCTTCCTGGGGTTTCTGCATAGCACGGTTGATGGCCTGCGGTGTGGGTGGGGACAGGAAGTCAGTGGGCATCGGTCAGATCTGAA 8548197 8548367 8548271 8548272 8548272 exon -36 0.5679012 TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCAGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT mutant NA NA NA NA NA 37 71 1 1 1 NA NA 1 0.9971863 NA NA 0 0.002813713 NA 0.9985931 NA 0.001406857 NA FALSE NA 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MYO1F HGNC 7600 ENST00000600825 2/3 rs368749334 1 NA T:0 T:0.0001 CCG C,T 8.267e-05 19:8548272 MYO1F HGNC Symbol protein_coding 56787 ENSG00000142347 ENSE00003672169 missense_variant 7.174422 0.9931 0.99024 0.615465 0.9989308 0 0.1580222 FALSE 8.12249e-05 ENSE00001487205_016 ENSE00001487205 016 19 8613082 8613251 - 39 81 50 C A 8613205 765 47 TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCTCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT 8548197 8548367 8548320 8548321 8548321 upstr_intron -4 -0.06 TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCTCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT TTCAGATCTGACCGATGCCCACTGACTTCCTGTCCCCACCCACACCGCAGGCCATCAACCGTGCTATGCAGAAACCCCAGGAAGAGTACAGCATCGGTGTGCTGGACATTTACGGCTTCGAGATCTTCCAGGTACGGCCCCCTGCCTCCAGCCCACATCCTGTCCTCCCT mutant NA NA NA NA NA 51 89 1 1 1 NA NA 1 0.9971863 NA NA 0 0.002813713 NA 0.9985931 NA 0.001406857 NA FALSE NA 0 -4.408 NA NA NA MYO1F NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:8548321 MYO1F HGNC Symbol protein_coding 56787 ENSG00000142347 ENSE00003672169 splice_region_variant 0.140223 0.1977 0.00632 0.060467 0.8155321 0.055107 0.1580222 FALSE 8.15288e-06 ENSE00001488336_000 ENSE00001488336 000 12 26864074 26864243 - 32 96 42 NA NA NA NA NA ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 NA NA NA NA NA NA ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT natural 74 118 0.9790674 0.9525132 0.9657903 18227 12445 0.8979285 0.8969622 0.8974453 0.9790674 0.9525132 0.8979285 0.8969622 0 0 0 0 0.9657903 0.8974453 0 0 0 FALSE FALSE NA NA NA NA NA ITPR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR2 NA NA NA ENSG00000123104 ENSE00003652573 NA NA NA NA NA NA NA 5.735928e-11 FALSE NA ENSE00001488336_002 ENSE00001488336 002 12 26864074 26864243 - 32 96 42 T C 26864096 832 148 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAGTGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711162 26711163 26711163 downstr_intron 10 1.322581 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAGTGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 294 2450 0.9676688 0.9997667 0.9837177 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.06974034 0.1028044 0.9657903 0.8974453 NA 0.08627239 NA FALSE NA 0 -0.898 . intron_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 2/2 1 NA ATT T,C 8.274e-06 12:26711163 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 intron_variant -0.062338 0.2437 0.03415 0.295142 0.5032398 0.0783011 5.735928e-11 FALSE 8.15448e-06 ENSE00001488336_003 ENSE00001488336 003 12 26864074 26864243 - 32 96 42 C T 26864105 833 139 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGATAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711171 26711172 26711172 downstr_intron 1 1.032258 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGATAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant 477 296 0 0 0 1308 377 0.003207079 0.01488762 0.00904735 0.9790674 0.9525132 0.8979285 0.8969622 -0.9790674 -0.9525132 -0.8947214 -0.8820746 0.9657903 0.8974453 -0.9657903 -0.888398 0.07739232 TRUE TRUE 1 7.64 . splice_donor_variant&non_coding_transcript_variant HIGH ITPR2 HGNC 6181 ENST00000540791 2/2 1 NA ACC C,T 1.655e-05 12:26711172 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 splice_donor_variant 6.274084 0.99552 0.99724 0.295142 0.9957122 0.989915 5.735928e-11 FALSE 1.62979e-05 ENSE00001488336_004 ENSE00001488336 004 12 26864074 26864243 - 32 96 42 G A 26864110 834 134 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGTAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711176 26711177 26711177 exon -5 0.9583333 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGTAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 2255 2231 0.9950429 0.942113 0.9685779 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.0971144 0.0451508 0.9657903 0.8974453 NA 0.0711326 NA FALSE NA 1 9.644 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 2/3 1 NA TGC G,A 8.274e-06 12:26711177 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 missense_variant 5.932856 0.99562 0.99825 0.706548 0.9991551 0 5.735928e-11 FALSE NA ENSE00001488336_005 ENSE00001488336 005 12 26864074 26864243 - 32 96 42 A C 26864116 835 128 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTGAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711182 26711183 26711183 exon -11 0.8958333 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTGAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant 39 63 0.9434146 0.9772665 0.9603406 57 613 0.9777633 1 0.9888816 0.9790674 0.9525132 0.8979285 0.8969622 -0.03565284 0.02475334 0.0798348 0.1030378 0.9657903 0.8974453 -0.005449751 0.09143629 0.09688604 FALSE FALSE 1 9.127 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 2/3 1 NA TAA A,C 8.274e-06 12:26711183 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 stop_gained 13.28898 0.99434 0.99828 0.706548 0.9916781 0 5.735928e-11 FALSE 4.07272e-06 ENSE00001488336_006 ENSE00001488336 006 12 26864074 26864243 - 32 96 42 C T 26864132 836 112 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTACAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711198 26711199 26711199 exon -27 0.7291667 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTACAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 391 781 0.9812249 0.9877508 0.9844879 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.08329641 0.09078863 0.9657903 0.8974453 NA 0.08704252 NA FALSE NA 1 7.64 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 2/3 1 NA GCA C,T 8.273e-06 12:26711199 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 missense_variant 7.42167 0.99564 0.99724 0.706548 0.9991235 0 5.735928e-11 FALSE 4.07053e-06 ENSE00001488336_007 ENSE00001488336 007 12 26864074 26864243 - 32 96 42 G A 26864138 837 106 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGTATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711204 26711205 26711205 exon -33 0.6666667 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGTATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 1343 2159 0.9603425 0.9506855 0.955514 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.062414 0.05372331 0.9657903 0.8974453 NA 0.05806866 NA FALSE NA 1 9.644 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 2/3 rs370341195 1 NA A:0 A:0.0001 TGC G,A 8.272e-06 12:26711205 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 missense_variant 6.380995 0.99574 0.99825 0.706548 0.9985892 0 5.735928e-11 FALSE NA ENSE00001488336_008 ENSE00001488336 008 12 26864074 26864243 - 32 96 42 G A 26864148 838 96 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTTAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711214 26711215 26711215 exon -43 0.5625 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTTAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 2054 586 0.9974165 0.9995441 0.9984803 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.09948802 0.1025819 0.9657903 0.8974453 NA 0.1010349 NA FALSE NA 1 1.736 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 2/3 rs568276736 1 NA TGA G,A 1.654e-05 12:26711215 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 synonymous_variant 1.554162 0.98435 0.91642 0.706548 0.8546332 0 5.735928e-11 FALSE 2.03507e-05 ENSE00001488336_010 ENSE00001488336 010 12 26864074 26864243 - 32 96 42 T C 26864164 840 80 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACGGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711230 26711231 26711231 exon 38 0.3958333 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACGGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant 46 44 0.8885388 0.9342673 0.9114031 1079 3568 0.9897981 0.997266 0.993532 0.9790674 0.9525132 0.8979285 0.8969622 -0.09052858 -0.01824591 0.09186961 0.1003038 0.9657903 0.8974453 -0.05438724 0.0960867 0.1504739 FALSE FALSE 1 7.814 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 2/3 1 NA CTG T,C 8.269e-06 12:26711231 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 missense_variant 3.09544 0.99395 0.99171 0.706548 0.9930689 0 5.735928e-11 FALSE 4.06994e-06 ENSE00001488336_011 ENSE00001488336 011 12 26864074 26864243 - 32 96 42 C A 26864179 841 65 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCTTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711245 26711246 26711246 exon 23 0.2395833 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCTTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 780 2556 0.9921534 0.988827 0.9904902 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.0942249 0.09186483 0.9657903 0.8974453 NA 0.09304486 NA FALSE NA 1 7.598 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:26711246 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 missense_variant 8.255182 0.99581 0.99377 0.706548 0.9983756 0 5.735928e-11 FALSE 8.14233e-06 ENSE00001488336_012 ENSE00001488336 012 12 26864074 26864243 - 32 96 42 C T 26864179 842 65 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCATGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711245 26711246 26711246 exon 23 0.2395833 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCATGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 708 1773 0.9851073 0.9872798 0.9861936 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.08717888 0.09031754 0.9657903 0.8974453 NA 0.08874821 NA FALSE NA 1 7.598 NA NA NA ITPR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR2 NA NA NA ENSG00000123104 ENSE00003652573 missense_variant 8.119614 0.99562 0.99249 0.706548 0.9993867 0 5.735928e-11 FALSE 8.14233e-06 ENSE00001488336_014 ENSE00001488336 014 12 26864074 26864243 - 32 96 42 A G 26864206 844 38 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTCGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711272 26711273 26711273 upstr_intron -5 -0.0952381 ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTCGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 797 2131 0.9983359 0.9733294 0.9858326 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.1004074 0.07636714 0.9657903 0.8974453 NA 0.08838727 NA FALSE NA 0 1.736 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ITPR2 HGNC 6181 ENST00000540791 1/2 rs533723709 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAA A,G 4.961e-05 12:26711273 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 splice_region_variant 0.690733 0.30258 0.65676 0.062308 0.7001956 0.377278 5.735928e-11 FALSE 7.74297e-05 ENSE00001488336_015 ENSE00001488336 015 12 26864074 26864243 - 32 96 42 C T 26864217 845 27 ATAAATATTGTTTTGCCATTACTATCATTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711283 26711284 26711284 upstr_intron -16 -0.3571429 ATAAATATTGTTTTGCCATTACTATCATTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 432 349 0.9817232 0.9986806 0.9902019 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.08379473 0.1017184 0.9657903 0.8974453 NA 0.09275657 NA FALSE NA 0 -2.541 . intron_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 1/2 rs370845853 1 NA T:0 T:0.0001 ACG C,T 8.269e-06 12:26711284 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 intron_variant -0.469089 0.06277 0.00713 0.062308 0.6324132 0.0556289 5.735928e-11 FALSE 4.08113e-06 ENSE00001488336_016 ENSE00001488336 016 12 26864074 26864243 - 32 96 42 G A 26864218 846 26 ATAAATATTGTTTTGCCATTACTATTGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711284 26711285 26711285 upstr_intron -17 -0.3809524 ATAAATATTGTTTTGCCATTACTATTGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 1156 1381 0.9423644 0.9985682 0.9704663 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.04443591 0.101606 0.9657903 0.8974453 NA 0.07302093 NA FALSE NA 0 -1.682 . intron_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 1/2 rs374164368 1 NA A:0.0002 A:0 CGA G,A 8.269e-06 12:26711285 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 intron_variant -0.384007 0.14 0.0163 0.062308 0.4104393 0.0556289 5.735928e-11 FALSE 2.4488e-05 ENSE00001488336_017 ENSE00001488336 017 12 26864074 26864243 - 32 96 42 T C 26864220 847 24 ATAAATATTGTTTTGCCATTACTGTCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711286 26711287 26711287 upstr_intron -19 -0.4285714 ATAAATATTGTTTTGCCATTACTGTCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant 44 68 0.9548988 0.936693 0.9457959 128 1096 1 0.9983468 0.9991734 0.9790674 0.9525132 0.8979285 0.8969622 -0.0241686 -0.0158202 0.1020715 0.1013846 0.9657903 0.8974453 -0.0199944 0.1017281 0.1217225 FALSE FALSE 0 -2.561 . intron_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 1/2 1 NA ATA T,C 1.654e-05 12:26711287 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 intron_variant -0.679256 0.10691 0.01263 0.062308 0.2263181 0.0556289 5.735928e-11 FALSE 1.22417e-05 ENSE00001488336_018 ENSE00001488336 018 12 26864074 26864243 - 32 96 42 G T 26864222 848 22 ATAAATATTGTTTTGCCATTAATATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711288 26711289 26711289 upstr_intron -21 -0.4761905 ATAAATATTGTTTTGCCATTAATATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant 63 10 0.8608685 1 0.9304342 502 1019 0.9980991 0.9977111 0.9979051 0.9790674 0.9525132 0.8979285 0.8969622 -0.118199 0.04748681 0.1001706 0.1007489 0.9657903 0.8974453 -0.03535607 0.1004598 0.1358158 FALSE FALSE 0 0.153 . intron_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 1/2 rs368037830 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0014 AGT G,T 0.001331 12:26711289 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 intron_variant -0.398045 0.23169 0.08627 0.062308 0.538742 0.0556289 5.735928e-11 FALSE 0.00142074 ENSE00001488336_019 ENSE00001488336 019 12 26864074 26864243 - 32 96 42 T C 26864226 849 18 ATAAATATTGTTTTGCCGTTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711292 26711293 26711293 upstr_intron -25 -0.5714286 ATAAATATTGTTTTGCCGTTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 610 1122 1 0.9999661 0.999983 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.1020715 0.1030039 0.9657903 0.8974453 NA 0.1025377 NA FALSE NA 0 -1.322 . intron_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 1/2 1 NA ATG T,C 8.27e-06 12:26711293 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 intron_variant 0.715277 0.40399 0.06702 0.062308 0.7339832 0.0556289 5.735928e-11 FALSE 4.08473e-06 ENSE00001488336_020 ENSE00001488336 020 12 26864074 26864243 - 32 96 42 A G 26864231 850 13 ATAAATATTGTTCTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 26711297 26711298 26711298 upstr_intron -30 -0.6904762 ATAAATATTGTTCTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT mutant NA NA NA NA NA 1964 758 0.9894015 0.9991349 0.9942682 0.9790674 0.9525132 0.8979285 0.8969622 NA NA 0.09147305 0.1021727 0.9657903 0.8974453 NA 0.09682286 NA FALSE NA 0 1.013 . intron_variant&non_coding_transcript_variant MODIFIER ITPR2 HGNC 6181 ENST00000540791 1/2 rs571601814 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAA A,G 0.0001075 12:26711298 ITPR2 HGNC Symbol protein_coding 496683 ENSG00000123104 ENSE00003652573 intron_variant 0.362651 0.31408 0.16747 0.062308 0.6640983 0.117079 5.735928e-11 FALSE 8.5825e-05 ENSE00001488336_BRK ENSE00001488336 BRK 12 26864074 26864243 - 32 96 42 A,G; T,T NA NA NA ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTTTGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGCCAAGACTAATGGATAAAGTGGTATTAAGTTT 26711140 26711310 NA NA NA NA NA NA ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTTTGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGCCAAGACTAATGGATAAAGTGGTATTAAGTTT ATAAATATTGTTTTGCCATTACTATCGTTGCTCTCTTTGTAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCTGCAGAGGTAAGACTAATGGATAAAGTGGTATTAAGTTT control 346 477 0 0 0 1337 720 0.003614691 0.05270085 0.02815777 0.9790674 0.9525132 0.8979285 0.8969622 -0.9790674 -0.9525132 -0.8943138 -0.8442614 0.9657903 0.8974453 -0.9657903 -0.8692876 0.09650274 TRUE TRUE NA NA NA NA NA ITPR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITPR2 NA NA NA ENSG00000123104 ENSE00003652573 NA NA NA NA NA NA NA 5.735928e-11 FALSE NA ENSE00001488518_000 ENSE00001488518 000 10 1060130 1060299 + 57 66 47 NA NA NA NA NA TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 NA NA NA NA NA NA TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT natural 28 15 0.9761881 0.9932671 0.9847276 2454 2044 0.9924344 0.9902658 0.9913501 0.9761881 0.9932671 0.9924344 0.9902658 0 0 0 0 0.9847276 0.9913501 0 0 0 FALSE FALSE NA NA NA NA NA GTPBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GTPBP4 NA NA NA ENSG00000107937 ENSE00003490454 NA NA NA NA NA NA NA 0.9998656 TRUE NA ENSE00001488518_002 ENSE00001488518 002 10 1060130 1060299 + 57 66 47 A G 1060144 55 15 TTTTTCAACATTTCGTCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014203 1014204 1014204 upstr_intron -43 -0.7368421 TTTTTCAACATTTCGTCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 1011 328 0.9976525 0.9994177 0.9985351 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.005218092 0.009151959 0.9847276 0.9913501 NA 0.007185025 NA FALSE NA 0 0.975 . intron_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 1/3 1 NA CAT A,G 9.06e-05 10:1014204 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 intron_variant 0.122255 0.23487 0.07821 0.256867 0.6836404 0.0989932 0.9998656 TRUE 6.9833e-05 ENSE00001488518_003 ENSE00001488518 003 10 1060130 1060299 + 57 66 47 T G 1060151 56 22 TTTTTCAACATTTCATCAAACGAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014210 1014211 1014211 upstr_intron -36 -0.6140351 TTTTTCAACATTTCATCAAACGAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 130 424 1 0.9983678 0.9991839 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.008102047 0.9847276 0.9913501 NA 0.007833828 NA FALSE NA 0 1.253 . intron_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 1/3 1 NA CTA T,G 9.884e-05 10:1014211 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 intron_variant 0.27934 0.31321 0.33262 0.256867 0.7535576 0.0989932 0.9998656 TRUE 6.94921e-05 ENSE00001488518_004 ENSE00001488518 004 10 1060130 1060299 + 57 66 47 A G 1060152 57 23 TTTTTCAACATTTCATCAAACTGATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014211 1014212 1014212 upstr_intron -35 -0.5964912 TTTTTCAACATTTCATCAAACTGATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 11 591 1 0.9988324 0.9994162 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.008566631 0.9847276 0.9913501 NA 0.00806612 NA FALSE NA 0 -0.889 . intron_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 1/3 1 NA TAA A,G 8.236e-05 10:1014212 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 intron_variant 0.009107 0.20332 0.07523 0.256867 0.601556 0.0989932 0.9998656 TRUE 7.75251e-05 ENSE00001488518_006 ENSE00001488518 006 10 1060130 1060299 + 57 66 47 T C 1060171 59 42 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCCTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014230 1014231 1014231 upstr_intron -16 -0.2631579 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCCTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 176 592 0.9917686 1 0.9958843 0.9761881 0.9932671 0.9924344 0.9902658 NA NA -0.0006658053 0.009734211 0.9847276 0.9913501 NA 0.004534203 NA FALSE NA 0.009 -0.026 . intron_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 1/3 1 NA CTT T,C 2.471e-05 10:1014231 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 intron_variant -0.27206 0.22352 0.15891 0.256867 0.5504805 0.0863292 0.9998656 TRUE 2.43895e-05 ENSE00001488518_007 ENSE00001488518 007 10 1060130 1060299 + 57 66 47 A G 1060176 60 47 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTGTCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014235 1014236 1014236 upstr_intron -11 -0.1754386 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTGTCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 150 1127 1 0.9999662 0.9999831 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.009700436 0.9847276 0.9913501 NA 0.008633022 NA FALSE NA 0.002 -0.242 . intron_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 1/3 1 NA TAT A,G 1.647e-05 10:1014236 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 intron_variant 0.114666 0.30337 0.03614 0.256867 0.5156673 0.0863292 0.9998656 TRUE 2.03259e-05 ENSE00001488518_008 ENSE00001488518 008 10 1060130 1060299 + 57 66 47 C A 1060179 61 50 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCATTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014238 1014239 1014239 upstr_intron -8 -0.122807 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCATTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 34 856 1 1 1 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.009734211 0.9847276 0.9913501 NA 0.00864991 NA FALSE NA 0 -1.354 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW GTPBP4 HGNC 21535 ENST00000483839 1/3 rs201740389 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CCT C,A 4.118e-05 10:1014239 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 splice_region_variant 0.21369 0.22923 0.10894 0.256867 0.5100571 0.0863292 0.9998656 TRUE 3.25248e-05 ENSE00001488518_010 ENSE00001488518 010 10 1060130 1060299 + 57 66 47 G T 1060187 63 58 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGTTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014246 1014247 1014247 exon 1 0.01515152 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGTTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 104 863 1 0.9878419 0.993921 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 -0.002423874 0.9847276 0.9913501 NA 0.002570868 NA FALSE NA 1 6.918 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW GTPBP4 HGNC 21535 ENST00000483839 2/4 1 NA GGT G,T 8.236e-06 10:1014247 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 1.068181 0.94883 0.97346 0.706548 0.6338852 0 0.9998656 TRUE 4.06197e-06 ENSE00001488518_011 ENSE00001488518 011 10 1060130 1060299 + 57 66 47 C G 1060190 64 61 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTGAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014249 1014250 1014250 exon 4 0.06060606 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTGAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 101 33 0.940993 1 0.9704965 0.9761881 0.9932671 0.9924344 0.9902658 NA NA -0.05144136 0.009734211 0.9847276 0.9913501 NA -0.02085358 NA FALSE NA 1 4.398 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 rs370193949 1 NA G:0.0002 G:0 TCA C,G 8.236e-06 10:1014250 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 0.02282 0.93483 0.87458 0.706548 0.4877913 0 0.9998656 TRUE NA ENSE00001488518_012 ENSE00001488518 012 10 1060130 1060299 + 57 66 47 G C 1060192 65 63 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCACAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014251 1014252 1014252 exon 6 0.09090909 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCACAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 703 79 0.9990006 0.9508282 0.9749144 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.006566162 -0.03943754 0.9847276 0.9913501 NA -0.01643569 NA FALSE NA 1 0.598 rs138824875 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 rs138824875 1 NA C:0 C:0.0002 AGA G,C 4.942e-05 10:1014252 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 1.660516 0.9281 0.89863 0.706548 0.8796204 0 0.9998656 TRUE 3.24876e-05 ENSE00001488518_013 ENSE00001488518 013 10 1060130 1060299 + 57 66 47 A T 1060193 66 64 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGTGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014252 1014253 1014253 exon 7 0.1060606 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGTGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 153 871 1 0.9987613 0.9993807 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.008495553 0.9847276 0.9913501 NA 0.008030581 NA FALSE NA 0.999 0.856 NA NA NA GTPBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:1014253 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 3.528965 0.92139 0.79574 0.706548 0.9844277 0 0.9998656 TRUE 4.06088e-06 ENSE00001488518_015 ENSE00001488518 015 10 1060130 1060299 + 57 66 47 A C 1060198 68 69 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACCGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014257 1014258 1014258 exon 12 0.1818182 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACCGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 282 428 1 0.9874679 0.993734 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 -0.002797845 0.9847276 0.9913501 NA 0.002383882 NA FALSE NA 0.998 1.502 rs142209029 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 rs142209029 1 NA C:0 C:0.0001 CAG A,C 1.647e-05 10:1014258 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 synonymous_variant -1.721692 0.86219 0.79154 0.706548 0.5005212 0 0.9998656 TRUE 4.06072e-06 ENSE00001488518_017 ENSE00001488518 017 10 1060130 1060299 + 57 66 47 G T 1060210 70 81 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAATGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014269 1014270 1014270 exon 24 0.3636364 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAATGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 1115 375 0.9964991 0.9983343 0.9974167 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.004064676 0.008068514 0.9847276 0.9913501 NA 0.006066595 NA FALSE NA 0.998 0.367 NA NA NA GTPBP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:1014270 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 0.895786 0.8893 0.50505 0.706548 0.7721279 0 0.9998656 TRUE 6.90305e-05 ENSE00001488518_020 ENSE00001488518 020 10 1060130 1060299 + 57 66 47 G A 1060218 73 89 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCATAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014277 1014278 1014278 exon 32 0.4848485 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCATAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 265 231 0.9874234 1 0.9937117 0.9761881 0.9932671 0.9924344 0.9902658 NA NA -0.005010988 0.009734211 0.9847276 0.9913501 NA 0.002361611 NA FALSE NA 0.988 2.008 rs3207775 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 rs3207775&COSM3751517 1 A:0.0795 A:0.0477 A:0.0576 NA A:0.0972 A:0.0795 A:0.1196 A:0.0658 A:0.0965 CGT G,A 0.083 10:1014278 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 2.654125 0.70053 0.82013 0.706548 0.9940045 0 0.9998656 TRUE 0.0837598 ENSE00001488518_021 ENSE00001488518 021 10 1060130 1060299 + 57 66 47 A G 1060235 74 106 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACGTGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014294 1014295 1014295 exon -18 0.7424242 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACGTGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 191 253 1 1 1 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.009734211 0.9847276 0.9913501 NA 0.00864991 NA FALSE NA 1 6.728 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 1 NA CAT A,G 1.647e-05 10:1014295 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 0.752652 0.95048 0.95623 0.706548 0.8758777 0 0.9998656 TRUE 8.12117e-06 ENSE00001488518_022 ENSE00001488518 022 10 1060130 1060299 + 57 66 47 G A 1060238 75 109 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGAACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014297 1014298 1014298 exon -15 0.7878788 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGAACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 31 62 1 1 1 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.009734211 0.9847276 0.9913501 NA 0.00864991 NA FALSE NA 0.977 1.741 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 1 NA GGA G,A 4.942e-05 10:1014298 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 3.177423 0.93236 0.80465 0.706548 0.9956997 0 0.9998656 TRUE 3.24847e-05 ENSE00001488518_024 ENSE00001488518 024 10 1060130 1060299 + 57 66 47 C T 1060240 77 111 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGATGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014299 1014300 1014300 exon -13 0.8181818 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGATGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 724 139 0.8991049 1 0.9495524 0.9761881 0.9932671 0.9924344 0.9902658 NA NA -0.0933295 0.009734211 0.9847276 0.9913501 NA -0.04179764 NA FALSE NA 0.228 -0.132 rs149613254 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 rs149613254 1 NA T:0 T:0.0001 ACG C,T 1.647e-05 10:1014300 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 synonymous_variant 1.595999 0.23414 0.06908 0.706548 0.7697821 0 0.9998656 TRUE 1.21819e-05 ENSE00001488518_025 ENSE00001488518 025 10 1060130 1060299 + 57 66 47 G A 1060241 78 112 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACAATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014300 1014301 1014301 exon -12 0.8333333 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACAATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 23 318 1 1 1 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.009734211 0.9847276 0.9913501 NA 0.00864991 NA FALSE NA 0.38 0.557 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 1 NA CGA G,A 1.647e-05 10:1014301 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 0.473423 0.23002 0.291 0.706548 0.8241185 0 0.9998656 TRUE 1.21819e-05 ENSE00001488518_027 ENSE00001488518 027 10 1060130 1060299 + 57 66 47 A G 1060248 80 119 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGGCGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014307 1014308 1014308 exon -5 0.9393939 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGGCGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 88 270 1 1 1 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007565609 0.009734211 0.9847276 0.9913501 NA 0.00864991 NA FALSE NA 1 8.507 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/4 1 NA GAC A,G 8.236e-06 10:1014308 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 missense_variant 1.614592 0.96709 0.98005 0.706548 0.885864 0 0.9998656 TRUE 4.06065e-06 ENSE00001488518_029 ENSE00001488518 029 10 1060130 1060299 + 57 66 47 C T 1060266 82 137 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGTGGTTCATGTGTTTATGTGGCTGGATACACCTTT 1014189 1014359 1014325 1014326 1014326 downstr_intron 14 1.304348 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGTGGTTCATGTGTTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 598 409 0.9997436 0.9966754 0.9982095 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.007309259 0.006409571 0.9847276 0.9913501 NA 0.006859415 NA FALSE NA 0 -0.492 . intron_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/3 1 NA GCG C,T 1.647e-05 10:1014326 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 intron_variant 0.507194 0.22745 0.02273 0.069865 0.9004207 0.046875 0.9998656 TRUE 1.62489e-05 ENSE00001488518_032 ENSE00001488518 032 10 1060130 1060299 + 57 66 47 G A 1060276 85 147 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTATTTATGTGGCTGGATACACCTTT 1014189 1014359 1014335 1014336 1014336 downstr_intron 24 1.521739 TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTATTTATGTGGCTGGATACACCTTT TTTTTCAACATTTCATCAAACTAATTTAAAGCTAATATTTCTTTTTATCCTTCTCAGGTTCAGAGGACAGTTTTGGAGAAGGAGATGCGTAGTCTTGGTGTTGACATGGACGATAAAGACGATGTGAGTGTGGGGGCGGTTCATGTGTTTATGTGGCTGGATACACCTTT mutant NA NA NA NA NA 224 98 0.9937847 1 0.9968924 0.9761881 0.9932671 0.9924344 0.9902658 NA NA 0.001350358 0.009734211 0.9847276 0.9913501 NA 0.005542284 NA FALSE NA 0 -0.414 . intron_variant&non_coding_transcript_variant MODIFIER GTPBP4 HGNC 21535 ENST00000483839 2/3 1 NA TGT G,A 1.647e-05 10:1014336 GTPBP4 HGNC Symbol protein_coding 31917 ENSG00000107937 ENSE00003490454 intron_variant 0.161641 0.14201 0.05038 0.099367 0.7623885 0.046323 0.9998656 TRUE 4.06174e-05 ENSE00001498078_000 ENSE00001498078 000 3 112054737 112054906 + 53 75 42 NA NA NA NA NA GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGATGGTGGTCTTTCCTAGGAGTGTAGCTGTAAGGAGAGGGCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 NA NA NA NA NA NA GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC natural NA NA NA NA NA 1762 2304 0.8218905 0.8047584 0.8133245 NA NA 0.8218905 0.8047584 NA NA 0 0 NA 0.8133245 NA 0 NA FALSE NA NA NA NA NA NA CD200 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD200 NA NA NA ENSG00000091972 ENSE00001498078 NA NA NA NA NA NA NA 0.1602386 FALSE NA ENSE00001498078_001 ENSE00001498078 001 3 112054737 112054906 + 53 75 42 T C 112054754 2324 18 GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGATGGTGGTCTTTCCTAGGAGTGTAGCTGTAAGGAGAGGGCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGGGCCAATATTGTCTCAGC 112335889 112336059 112335906 112335907 112335907 upstr_intron -36 -0.6603774 GCTGAGACAATATTGGCCCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 338 46 0.8 0.8054669 0.8027334 NA NA 0.8218905 0.8047584 NA NA -0.0218905 0.0007084185 NA 0.8133245 NA -0.01059104 NA FALSE NA 0.002 0.5 rs139668233 intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 rs139668233 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 CTC T,C 0.00014 3:112335907 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 non_coding_transcript_exon_variant -0.225038 0.09544 0.00885 0 0.7260424 0.0517534 0.1602386 FALSE 0.000126038 ENSE00001498078_005 ENSE00001498078 005 3 112054737 112054906 + 53 75 42 A T 112054776 2328 40 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGTTCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC 112335889 112336059 112335928 112335929 112335929 upstr_intron -14 -0.245283 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGTTCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 83 323 0.95 0.9515362 0.9507681 NA NA 0.8218905 0.8047584 NA NA 0.1281095 0.1467778 NA 0.8133245 NA 0.1374436 NA FALSE NA 0 0.281 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 rs201119808 1 NA GAT A,T 4.118e-05 3:112335929 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 non_coding_transcript_exon_variant 0.032034 0.12155 0.01562 0 0.7885125 0.0517534 0.1602386 FALSE 2.43688e-05 ENSE00001498078_008 ENSE00001498078 008 3 112054737 112054906 + 53 75 42 T C 112054806 2331 70 GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGATGGTGGTCTTTCCTAGGAGTGTAGCTGTAAGGAGAGGGCCCCCAGTTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 112335958 112335959 112335959 exon 17 0.2266667 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAACTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 537 39 0.9405381 0.9420242 0.9412811 NA NA 0.8218905 0.8047584 NA NA 0.1186476 0.1372658 NA 0.8133245 NA 0.1279567 NA FALSE NA 0.011 0.097 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 rs374482918 1 NA C:0 C:0.0001 ATT T,C 3.295e-05 3:112335959 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 missense_variant 0.556947 0.09296 0.00123 0.722319 0.9752601 0 0.1602386 FALSE 2.03042e-05 ENSE00001498078_010 ENSE00001498078 010 3 112054737 112054906 + 53 75 42 C G 112054813 2333 77 GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGATGGTGGTCTTTCCTAGGAGTGTAGCTGTAAGGAGAGGCCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 112335965 112335966 112335966 exon 24 0.32 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGGCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 21 133 0.01471393 0 0.007356965 NA NA 0.8218905 0.8047584 NA NA -0.8071766 -0.8047584 NA 0.8133245 NA -0.8059675 NA TRUE NA 0 -0.908 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 1 NA GCC C,G 8.236e-06 3:112335966 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 synonymous_variant -0.061464 0.10324 0.00316 0.722319 0.487902 0 0.1602386 FALSE 4.06095e-06 ENSE00001498078_012 ENSE00001498078 012 3 112054737 112054906 + 53 75 42 C T 112054824 2335 88 GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGATGGTGGTCTTTCCTAGGAGTGTAGCTATAAGGAGAGGGCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 112335976 112335977 112335977 exon 35 0.4666667 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTATAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 82 103 0.1472073 0 0.07360365 NA NA 0.8218905 0.8047584 NA NA -0.6746832 -0.8047584 NA 0.8133245 NA -0.7397208 NA TRUE NA 0 -1.987 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 1 NA ACA C,T 8.236e-06 3:112335977 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 missense_variant -1.753318 0.05686 0.00076 0.722319 0.2782161 0 0.1602386 FALSE 8.12189e-06 ENSE00001498078_013 ENSE00001498078 013 3 112054737 112054906 + 53 75 42 A G 112054825 2336 89 GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGATGGTGGTCTTTCCTAGGAGTGTAGCCGTAAGGAGAGGGCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 112335977 112335978 112335978 exon 36 0.48 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACGGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 770 61 0.9996789 0.9448971 0.972288 NA NA 0.8218905 0.8047584 NA NA 0.1777884 0.1401386 NA 0.8133245 NA 0.1589635 NA FALSE NA 0 0.056 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 1 NA CAG A,G 8.236e-06 3:112335978 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 synonymous_variant -1.072191 0.14338 0.01298 0.722319 0.7667929 0 0.1602386 FALSE 4.06088e-06 ENSE00001498078_015 ENSE00001498078 015 3 112054737 112054906 + 53 75 42 A C 112054841 2338 105 GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGATGGTGGTCTGTCCTAGGAGTGTAGCTGTAAGGAGAGGGCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 112335993 112335994 112335994 exon -24 0.6933333 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGACAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 354 16 0.7962093 0.8 0.7981046 NA NA 0.8218905 0.8047584 NA NA -0.02568122 -0.004758437 NA 0.8133245 NA -0.01521983 NA FALSE NA 0.002 0.725 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 1 NA AAA A,C 8.236e-06 3:112335994 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 missense_variant -1.030382 0.12867 0.01999 0.722319 0.9477428 0 0.1602386 FALSE 4.06095e-06 ENSE00001498078_018 ENSE00001498078 018 3 112054737 112054906 + 53 75 42 T G 112054851 2341 115 GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGCTGGTGGTCTTTCCTAGGAGTGTAGCTGTAAGGAGAGGGCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 112336003 112336004 112336004 exon -14 0.8266667 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCAGCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 182 538 0.8 0.6938397 0.7469199 NA NA 0.8218905 0.8047584 NA NA -0.0218905 -0.1109187 NA 0.8133245 NA -0.06640462 NA FALSE NA 0 0.373 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 1 NA ATC T,G 8.236e-06 3:112336004 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 missense_variant 0.37913 0.15859 0.01964 0.722319 0.9798276 0 0.1602386 FALSE 4.06124e-06 ENSE00001498078_022 ENSE00001498078 022 3 112054737 112054906 + 53 75 42 T C 112054866 2345 130 GTTACTAACCAAGTCCCTTCATAGGTAGGGGTAGAAAATTGCCTGGTAATCATTGATGGTGGTCTTTCCTAGGAGTGTAGCTGTAAGGAGAGGGCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 112336018 112336019 112336019 downstr_intron 2 1.04878 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGCAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 133 576 0 0 0 NA NA 0.8218905 0.8047584 NA NA -0.8218905 -0.8047584 NA 0.8133245 NA -0.8133245 NA TRUE NA 0.002 0.355 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 1 NA GTA T,C 3.295e-05 3:112336019 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 splice_donor_variant 0.218272 0.1184 0.01905 0.07523 0.7733846 0.103281 0.1602386 FALSE 3.24934e-05 ENSE00001498078_026 ENSE00001498078 026 3 112054737 112054906 + 53 75 42 G T 112054891 2349 155 GTTACTAACCAAGTCACTTCATAGGTAGGGGTAGAAAATTACCTGGTAATCATTGATGGTGGTCTTTCCTAGGAGTGTAGCTGTAAGGAGAGGGCCCCCAATTGTCCTGGTCAGAGTCTGTGGTTTGAGATCAATGAGATGATAAAAATTAGAGCCAATATTGTCTCAGC 112335889 112336059 112336043 112336044 112336044 downstr_intron 27 1.658537 GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGTGACTTGGTTAGTAAC GCTGAGACAATATTGGCTCTAATTTTTATCATCTCATTGATCTCAAACCACAGACTCTGACCAGGACAATTGGGGGCCCTCTCCTTACAGCTACACTCCTAGGAAAGACCACCATCAATGATTACCAGGTAATTTTCTACCCCTACCTATGAAGGGACTTGGTTAGTAAC mutant NA NA NA NA NA 204 260 0.8025515 0.8445185 0.823535 NA NA 0.8218905 0.8047584 NA NA -0.01933899 0.03976007 NA 0.8133245 NA 0.01021054 NA FALSE NA 0 -0.467 . intron_variant MODIFIER CD200 HGNC 7203 ENST00000315711 1/5 1 NA GGG G,T 8.237e-06 3:112336044 CD200 HGNC Symbol protein_coding 30465 ENSG00000091972 ENSE00001498078 intron_variant 0.189294 0.09423 0.00401 0.079558 0.7783759 0.0511232 0.1602386 FALSE 4.06755e-06 ENSE00001504275_000 ENSE00001504275 000 12 104120997 104121166 + 48 84 38 NA NA NA NA NA TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 NA NA NA NA NA NA TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG natural 17 15 0.994533 0.9743442 0.9844386 280 1480 0.9909702 0.8967232 0.9438467 0.994533 0.9743442 0.9909702 0.8967232 0 0 0 0 0.9844386 0.9438467 0 0 0 FALSE FALSE NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00001504275 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00001504275_001 ENSE00001504275 001 12 104120997 104121166 + 48 84 38 T C 104121010 2927 14 TATTGATGTTAAGCGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727231 103727232 103727232 upstr_intron -35 -0.7083333 TATTGATGTTAAGCGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 118 38 1 1 1 0.994533 0.9743442 0.9909702 0.8967232 NA NA 0.009029754 0.1032768 0.9844386 0.9438467 NA 0.05615326 NA FALSE NA 0 -0.215 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 46/68 1 NA GTG T 8.236e-06 12:103727232 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 intron_variant 0.732434 0.14532 0.06586 0.061011 0.6965578 0.0443366 4.175676e-28 FALSE 4.06431e-06 ENSE00001504275_003 ENSE00001504275 003 12 104120997 104121166 + 48 84 38 T G 104121019 2929 23 TATTGATGTTAAGTGAGTGATGGGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727240 103727241 103727241 upstr_intron -26 -0.5208333 TATTGATGTTAAGTGAGTGATGGGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 36 53 0.8346226 0.85 0.8423113 876 94 0.8058531 0.8 0.8029265 0.994533 0.9743442 0.9909702 0.8967232 -0.1599104 -0.1243442 -0.1851172 -0.09672323 0.9844386 0.9438467 -0.1421273 -0.1409202 0.001207075 FALSE FALSE 0 -1.125 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 46/68 1 NA GTG T 1.647e-05 12:103727241 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 intron_variant 0.043445 0.15347 0.03161 0.061011 0.6649607 0.0448725 4.175676e-28 FALSE 8.12552e-06 ENSE00001504275_004 ENSE00001504275 004 12 104120997 104121166 + 48 84 38 G A 104121020 2930 24 TATTGATGTTAAGTGAGTGATGTATGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727241 103727242 103727242 upstr_intron -25 -0.5 TATTGATGTTAAGTGAGTGATGTATGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 66 345 0.9916014 0.9944587 0.9930301 0.994533 0.9743442 0.9909702 0.8967232 NA NA 0.0006311115 0.09773552 0.9844386 0.9438467 NA 0.04918332 NA FALSE NA 0 -0.403 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 46/68 1 NA TGT G 8.236e-06 12:103727242 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 intron_variant -0.00483 0.1559 0.02769 0.061011 0.6704274 0.0448725 4.175676e-28 FALSE 4.06276e-06 ENSE00001504275_005 ENSE00001504275 005 12 104120997 104121166 + 48 84 38 G A 104121022 2931 26 TATTGATGTTAAGTGAGTGATGTGTAAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727243 103727244 103727244 upstr_intron -23 -0.4583333 TATTGATGTTAAGTGAGTGATGTGTAAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 38 17 0.9315539 0.952773 0.9421634 299 737 0.9788381 0.9958287 0.9873334 0.994533 0.9743442 0.9909702 0.8967232 -0.06297909 -0.02157118 -0.01213218 0.09910546 0.9844386 0.9438467 -0.04227514 0.04348664 0.08576178 FALSE FALSE 0.003 1.155 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 46/68 1 NA TGA G 8.236e-06 12:103727244 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 intron_variant -0.096734 0.18502 0.07452 0.061011 0.7333389 0.0448725 4.175676e-28 FALSE 4.06256e-06 ENSE00001504275_008 ENSE00001504275 008 12 104120997 104121166 + 48 84 38 A G 104121041 2934 45 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCGCAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727262 103727263 103727263 upstr_intron -4 -0.0625 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCGCAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 46 207 1 1 1 0.994533 0.9743442 0.9909702 0.8967232 NA NA 0.009029754 0.1032768 0.9844386 0.9438467 NA 0.05615326 NA FALSE NA 0 -0.773 rs147827190 splice_region_variant&intron_variant LOW STAB2 HGNC 18629 ENST00000388887 46/68 rs147827190 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAC A 8.236e-06 12:103727263 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 splice_region_variant 0.204693 0.11191 0.00397 0.061011 0.5687789 0.0945736 4.175676e-28 FALSE 4.06253e-06 ENSE00001504275_009 ENSE00001504275 009 12 104120997 104121166 + 48 84 38 G A 104121047 2935 51 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAACATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727268 103727269 103727269 exon 3 0.03571429 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAACATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 426 19 0.9428835 0.9915835 0.9672335 0.994533 0.9743442 0.9909702 0.8967232 NA NA -0.0480867 0.09486032 0.9844386 0.9438467 NA 0.02338681 NA FALSE NA 0.589 -0.378 rs148601762 splice_region_variant&synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 47/69 rs148601762 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 AGC G 6.589e-05 12:103727269 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 splice_region_variant 0.31456 0.32734 0.04219 0.487112 0.7220486 0 4.175676e-28 FALSE 4.4694e-05 ENSE00001504275_011 ENSE00001504275 011 12 104120997 104121166 + 48 84 38 G A 104121054 2937 58 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCATGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727275 103727276 103727276 exon 10 0.1190476 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCATGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 31 14 0.8321136 0.85 0.8410568 NA NA NA NA NA 0.994533 0.9743442 0.9909702 0.8967232 -0.1624194 -0.1243442 NA NA 0.9844386 0.9438467 -0.1433818 NA NA NA FALSE 0.012 0.005 rs142064323 missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 47/69 rs142064323 1 deleterious(0.03) benign(0.379) NA A:0.0002 A:0 CGT G 1.647e-05 12:103727276 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 missense_variant 1.990041 0.15626 0.02335 0.487112 0.9953959 0 4.175676e-28 FALSE 2.03145e-05 ENSE00001504275_012 ENSE00001504275 012 12 104120997 104121166 + 48 84 38 G A 104121056 2938 60 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTAAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727277 103727278 103727278 exon 12 0.1428571 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTAAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 147 181 0.8425063 0.85 0.8462532 209 73 0.8438143 0.8 0.8219072 0.994533 0.9743442 0.9909702 0.8967232 -0.1520267 -0.1243442 -0.1471559 -0.09672323 0.9844386 0.9438467 -0.1381854 -0.1219396 0.01624585 FALSE FALSE 0.04 -1.095 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 47/69 1 NA TGA G 8.236e-06 12:103727278 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 synonymous_variant 0.387855 0.11565 0.0181 0.487112 0.5573645 0 4.175676e-28 FALSE 4.06299e-06 ENSE00001504275_013 ENSE00001504275 013 12 104120997 104121166 + 48 84 38 G A 104121065 2939 69 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTAGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727286 103727287 103727287 exon 21 0.25 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTAGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 458 524 0.91274 0.9505777 0.9316588 0.994533 0.9743442 0.9909702 0.8967232 NA NA -0.07823029 0.05385447 0.9844386 0.9438467 NA -0.01218791 NA FALSE NA 0.082 0.38 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 47/69 1 NA TGG G 7.413e-05 12:103727287 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 synonymous_variant 0.088085 0.80277 0.26783 0.487112 0.4023642 0 4.175676e-28 FALSE 6.90731e-05 ENSE00001504275_014 ENSE00001504275 014 12 104120997 104121166 + 48 84 38 C T 104121068 2940 72 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTTGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727289 103727290 103727290 exon 24 0.2857143 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTTGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 1718 82 0.9538919 0.9854308 0.9696614 0.994533 0.9743442 0.9909702 0.8967232 NA NA -0.0370783 0.08870761 0.9844386 0.9438467 NA 0.02581465 NA FALSE NA 0 -1.975 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 47/69 COSM3455294 1 NA TCG C 8.236e-06 12:103727290 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 synonymous_variant 1.182225 0.08174 0.00163 0.487112 0.4844849 0 4.175676e-28 FALSE 1.62529e-05 ENSE00001504275_015 ENSE00001504275 015 12 104120997 104121166 + 48 84 38 G T 104121069 2941 73 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCTGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727290 103727291 103727291 exon 25 0.297619 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCTGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 64 48 0.85 0.85 0.85 723 36 0.9764619 0.951809 0.9641354 0.994533 0.9743442 0.9909702 0.8967232 -0.144533 -0.1243442 -0.01450835 0.05508577 0.9844386 0.9438467 -0.1344386 0.02028871 0.1547273 FALSE FALSE 0.669 1.663 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103727291 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 missense_variant 3.880886 0.3473 0.56939 0.487112 0.9884209 0 4.175676e-28 FALSE 4.06329e-06 ENSE00001504275_016 ENSE00001504275 016 12 104120997 104121166 + 48 84 38 G A 104121069 2942 73 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCAGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727290 103727291 103727291 exon 25 0.297619 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCAGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 202 290 0.938879 0.9517091 0.9452941 0.994533 0.9743442 0.9909702 0.8967232 NA NA -0.05209126 0.0549859 0.9844386 0.9438467 NA 0.001447319 NA FALSE NA 0.669 1.663 NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00001504275 missense_variant 1.039424 0.31646 0.31297 0.487112 0.8328991 0 4.175676e-28 FALSE 5.68861e-05 ENSE00001504275_019 ENSE00001504275 019 12 104120997 104121166 + 48 84 38 G C 104121087 2945 91 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTCTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727308 103727309 103727309 exon -42 0.5119048 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTCTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 896 16 0.8256196 1 0.9128098 0.994533 0.9743442 0.9909702 0.8967232 NA NA -0.1653506 0.1032768 0.9844386 0.9438467 NA -0.03103693 NA FALSE NA 0.976 2.125 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 47/69 1 tolerated(0.15) benign(0.364) NA TGT G 8.236e-06 12:103727309 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 missense_variant 1.616024 0.92615 0.88133 0.487112 0.9582658 0 4.175676e-28 FALSE 4.06296e-06 ENSE00001504275_020 ENSE00001504275 020 12 104120997 104121166 + 48 84 38 T C 104121091 2946 95 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTCTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727312 103727313 103727313 exon -38 0.5595238 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTCTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 591 82 1 1 1 0.994533 0.9743442 0.9909702 0.8967232 NA NA 0.009029754 0.1032768 0.9844386 0.9438467 NA 0.05615326 NA FALSE NA 1 5.847 rs141432051 missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 47/69 rs141432051 1 deleterious(0) possibly_damaging(0.901) C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 C:0 C:0.0001 TTT T 4.118e-05 12:103727313 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 missense_variant 4.848859 0.97339 0.98044 0.487112 0.997944 0 4.175676e-28 FALSE 2.84396e-05 ENSE00001504275_021 ENSE00001504275 021 12 104120997 104121166 + 48 84 38 C T 104121094 2947 98 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGTACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727315 103727316 103727316 exon -35 0.5952381 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGTACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 140 319 0.85 0.85 0.85 NA NA NA NA NA 0.994533 0.9743442 0.9909702 0.8967232 -0.144533 -0.1243442 NA NA 0.9844386 0.9438467 -0.1344386 NA NA NA FALSE 0 -0.832 rs151168605 missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 47/69 rs151168605 1 tolerated(1) benign(0.042) NA T:0 T:0.0001 GCA C 2.471e-05 12:103727316 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 missense_variant -0.168583 0.64264 0.02821 0.487112 0.09086448 0 4.175676e-28 FALSE 3.25076e-05 ENSE00001504275_024 ENSE00001504275 024 12 104120997 104121166 + 48 84 38 C G 104121110 2950 114 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCGTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727331 103727332 103727332 exon -19 0.7857143 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCGTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 20 58 1 1 1 0.994533 0.9743442 0.9909702 0.8967232 NA NA 0.009029754 0.1032768 0.9844386 0.9438467 NA 0.05615326 NA FALSE NA 0.503 0.142 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 47/69 1 NA CCT C 1.647e-05 12:103727332 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 synonymous_variant 1.518806 0.95441 0.828 0.487112 0.5142996 0 4.175676e-28 FALSE 8.12896e-06 ENSE00001504275_025 ENSE00001504275 025 12 104120997 104121166 + 48 84 38 C T 104121126 2951 130 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTTGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727347 103727348 103727348 exon -3 0.9761905 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTTGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 26 29 0.6868257 0.7029633 0.6948945 65 69 0.95 0.9650233 0.9575116 0.994533 0.9743442 0.9909702 0.8967232 -0.3077073 -0.2713808 -0.04097025 0.06830004 0.9844386 0.9438467 -0.2895441 0.0136649 0.303209 FALSE FALSE 0 0.057 . missense_variant&splice_region_variant MODERATE STAB2 HGNC 18629 ENST00000388887 47/69 1 deleterious(0.03) possibly_damaging(0.88) NA TCG C 6.589e-05 12:103727348 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 missense_variant 5.300284 0.16648 0.13072 0.487112 0.997966 0 4.175676e-28 FALSE 4.47191e-05 ENSE00001504275_026 ENSE00001504275 026 12 104120997 104121166 + 48 84 38 G A 104121127 2952 131 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCAGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727348 103727349 103727349 exon -2 0.9880952 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCAGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 1963 36 1 0.9464893 0.9732447 0.994533 0.9743442 0.9909702 0.8967232 NA NA 0.009029754 0.0497661 0.9844386 0.9438467 NA 0.02939793 NA FALSE NA 0 -2.342 . missense_variant&splice_region_variant MODERATE STAB2 HGNC 18629 ENST00000388887 47/69 rs541202265 1 tolerated(0.48) benign(0.02) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGG G 1.647e-05 12:103727349 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 missense_variant 0.790225 0.12119 0.00231 0.487112 0.9404935 0 4.175676e-28 FALSE 8.13074e-06 ENSE00001504275_027 ENSE00001504275 027 12 104120997 104121166 + 48 84 38 G A 104121131 2953 135 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTAAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 103727352 103727353 103727353 downstr_intron 3 1.081081 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTAAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 39 494 1 0.9961386 0.9980693 0.994533 0.9743442 0.9909702 0.8967232 NA NA 0.009029754 0.09941541 0.9844386 0.9438467 NA 0.05422258 NA FALSE NA 1 0.859 . splice_region_variant&intron_variant LOW STAB2 HGNC 18629 ENST00000388887 47/68 1 NA TGA G 8.236e-06 12:103727353 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 splice_region_variant 0.523536 0.89485 0.11834 0.061011 0.4801094 0.184371 4.175676e-28 FALSE 4.06537e-06 ENSE00001504275_029 ENSE00001504275 029 12 104120997 104121166 + 48 84 38 A G 104121151 2955 155 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGGAGGGGGAGGTCTGCG 103727218 103727388 103727372 103727373 103727373 downstr_intron 23 1.621622 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGGAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 673 53 0.9995098 1 0.9997549 0.994533 0.9743442 0.9909702 0.8967232 NA NA 0.008539532 0.1032768 0.9844386 0.9438467 NA 0.05590815 NA FALSE NA 0 -0.142 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 47/68 1 NA GAA A 8.236e-06 12:103727373 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 intron_variant -0.106493 0.10167 0.00155 0.061011 0.339253 0.0455939 4.175676e-28 FALSE 4.06686e-06 ENSE00001504275_030 ENSE00001504275 030 12 104120997 104121166 + 48 84 38 G A 104121153 2956 157 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAAGGGGAGGTCTGCG 103727218 103727388 103727374 103727375 103727375 downstr_intron 25 1.675676 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAAGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 24 21 0.85 0.85 0.85 243 233 0.8 0.8021661 0.801083 0.994533 0.9743442 0.9909702 0.8967232 -0.144533 -0.1243442 -0.1909702 -0.09455714 0.9844386 0.9438467 -0.1344386 -0.1427637 0.008325116 FALSE FALSE 0 -1.548 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103727375 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 intron_variant -0.016253 0.1252 0.00874 0.061011 0.4760475 0.0455939 4.175676e-28 FALSE 1.62697e-05 ENSE00001504275_031 ENSE00001504275 031 12 104120997 104121166 + 48 84 38 G C 104121153 2957 157 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAACGGGGAGGTCTGCG 103727218 103727388 103727374 103727375 103727375 downstr_intron 25 1.675676 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAACGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 1463 156 0.8874879 0.9533861 0.920437 0.994533 0.9743442 0.9909702 0.8967232 NA NA -0.1034824 0.0566629 0.9844386 0.9438467 NA -0.02340973 NA FALSE NA 0 -1.548 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00001504275 intron_variant -0.416653 0.13556 0.01162 0.061011 0.4266561 0.0455939 4.175676e-28 FALSE 1.62697e-05 ENSE00001504275_033 ENSE00001504275 033 12 104120997 104121166 + 48 84 38 G A 104121154 2959 158 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGAGGGAGGTCTGCG 103727218 103727388 103727375 103727376 103727376 downstr_intron 26 1.702703 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGAGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant NA NA NA NA NA 319 213 0.9707707 0.9651008 0.9679357 0.994533 0.9743442 0.9909702 0.8967232 NA NA -0.02019955 0.06837753 0.9844386 0.9438467 NA 0.02408899 NA FALSE NA 0 0.07 NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103727376 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 intron_variant 0.193099 0.20402 0.01099 0.061011 0.3802728 0.0455939 4.175676e-28 FALSE 4.06884e-06 ENSE00001504275_034 ENSE00001504275 034 12 104120997 104121166 + 48 84 38 G A 104121156 2960 160 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGAGAGGTCTGCG 103727218 103727388 103727377 103727378 103727378 downstr_intron 28 1.756757 TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGAGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG mutant 11 11 0.85 0.85 0.85 104 903 0.8 0.7043173 0.7521586 0.994533 0.9743442 0.9909702 0.8967232 -0.144533 -0.1243442 -0.1909702 -0.192406 0.9844386 0.9438467 -0.1344386 -0.1916881 0.05724952 FALSE FALSE 0 0.048 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 47/68 1 NA GGG G 8.236e-06 12:103727378 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504275 intron_variant -0.010477 0.13944 0.00395 0.061011 0.4540365 0.0455939 4.175676e-28 FALSE 4.06795e-06 ENSE00001504275_BRK ENSE00001504275 BRK 12 104120997 104121166 + 48 84 38 A,G; T,T NA NA NA TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACTTGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGCCGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG 103727218 103727388 NA NA NA NA NA NA TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACTTGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGCCGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG TATTGATGTTAAGTGAGTGATGTGTGAGCCTCACCTTTCTTCCCACAGGAGCATTTCGTGAAAGATCTGGTCGGCCCAGGCCCCTTCACTGTTTTTGCACCTTTATCTGCAGCCTTTGATGAGGAAGCTCGGGTGAGCATGAGACTGTGGGCAGAAGGGGGAGGTCTGCG control 80 19 0 0 0 NA NA NA NA NA 0.994533 0.9743442 0.9909702 0.8967232 -0.994533 -0.9743442 NA NA 0.9844386 0.9438467 -0.9844386 NA NA NA TRUE NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00001504275 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00001504278_000 ENSE00001504278 000 12 104111494 104111663 + 54 72 44 NA NA NA NA NA GGGCTCTGAGGCTTGAAGGATATCCACCCTAGAGCCATACTCACAGTTAAGCAGACATTGATGAGTGTGCAGACCTTTCCATCTCCAGTGTATGCTGGCAAACAGTTACAGGCAGCCTGTCCAGGAGTAGAAGCACATGGGGTCATTTTGCAGGTGGGTTCTGTACTGGC 103717715 103717885 NA NA NA NA NA NA GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC natural 156 50 0.968171 0.9916774 0.9799242 2664 1519 0.9935486 0.9663881 0.9799684 0.968171 0.9916774 0.9935486 0.9663881 0 0 0 0 0.9799242 0.9799684 0 0 0 FALSE FALSE NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00001504278 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00001504278_001 ENSE00001504278 001 12 104111494 104111663 + 54 72 44 C T 104111510 2901 17 GCCAGTACAGAACCCATCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 103717731 103717732 103717732 upstr_intron -38 -0.6851852 GCCAGTACAGAACCCATCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 360 51 0.8117716 1 0.9058858 0.968171 0.9916774 0.9935486 0.9663881 NA NA -0.181777 0.03361192 0.9799242 0.9799684 NA -0.07408257 NA FALSE NA 0 -0.566 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 43/68 rs201882903 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACC C,T 8.236e-06 12:103717732 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 intron_variant -0.171718 0.09423 0.00088 0.061011 0.2911657 0.0436289 4.175676e-28 FALSE 4.07511e-06 ENSE00001504278_002 ENSE00001504278 002 12 104111494 104111663 + 54 72 44 C G 104111511 2902 18 GGGCTCTGAGGCTTGAAGGATATCCACCCTAGAGCCATACTCACAGTTAAGCAGACATTGATGAGTGTGCAGACCTTTCCATCTCCAGTGTATGCTGGCAAACAGTTACAGGCAGCCTGTCCAGGAGTAGAAGCACATGGGGTCATTTTGCACGTGGGTTCTGTACTGGC 103717715 103717885 103717732 103717733 103717733 upstr_intron -37 -0.6666667 GCCAGTACAGAACCCACGTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 442 1050 0.9953852 1 0.9976926 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.001836516 0.03361192 0.9799242 0.9799684 NA 0.01772422 NA FALSE NA 0.001 0.636 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 43/68 1 NA CCT C,G 8.236e-06 12:103717733 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 intron_variant -0.007495 0.23906 0.0958 0.061011 0.3789794 0.0436289 4.175676e-28 FALSE 4.07442e-06 ENSE00001504278_005 ENSE00001504278 005 12 104111494 104111663 + 54 72 44 C G 104111522 2905 29 GGGCTCTGAGGCTTGAAGGATATCCACCCTAGAGCCATACTCACAGTTAAGCAGACATTGATGAGTGTGCAGACCTTTCCATCTCCAGTGTATGCTGGCAAACAGTTACAGGCAGCCTGTCCAGGAGTAGAAGCACATGGGCTCATTTTGCAGGTGGGTTCTGTACTGGC 103717715 103717885 103717743 103717744 103717744 upstr_intron -26 -0.462963 GCCAGTACAGAACCCACCTGCAAAATGAGCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant 13 18 0.85 0.9453616 0.8976808 38 24 0.9660693 0.8 0.8830346 0.968171 0.9916774 0.9935486 0.9663881 -0.118171 -0.0463158 -0.02747936 -0.1663881 0.9799242 0.9799684 -0.08224341 -0.09693372 0.01469032 FALSE FALSE 0.002 1.205 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 43/68 1 NA ACC C,G 1.647e-05 12:103717744 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 intron_variant 0.382545 0.27896 0.05536 0.061011 0.6109956 0.0436289 4.175676e-28 FALSE 1.62755e-05 ENSE00001504278_006 ENSE00001504278 006 12 104111494 104111663 + 54 72 44 T C 104111527 2906 34 GGGCTCTGAGGCTTGAAGGATATCCACCCTAGAGCCATACTCACAGTTAAGCAGACATTGATGAGTGTGCAGACCTTTCCATCTCCAGTGTATGCTGGCAAACAGTTACAGGCAGCCTGTCCAGGAGTAGAAGCACGTGGGGTCATTTTGCAGGTGGGTTCTGTACTGGC 103717715 103717885 103717748 103717749 103717749 upstr_intron -21 -0.3703704 GCCAGTACAGAACCCACCTGCAAAATGACCCCACGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 116 48 0.8 1 0.9 0.968171 0.9916774 0.9935486 0.9663881 NA NA -0.1935486 0.03361192 0.9799242 0.9799684 NA -0.07996836 NA FALSE NA 0 -0.408 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 43/68 rs528132982 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 1.647e-05 12:103717749 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 intron_variant -0.001303 0.222 0.01741 0.061011 0.5142477 0.0436289 4.175676e-28 FALSE 1.62664e-05 ENSE00001504278_009 ENSE00001504278 009 12 104111494 104111663 + 54 72 44 A G 104111544 2909 51 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGGCAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 103717765 103717766 103717766 upstr_intron -4 -0.05555556 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGGCAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant 39 16 0.85 0.85 0.85 NA NA NA NA NA 0.968171 0.9916774 0.9935486 0.9663881 -0.118171 -0.1416774 NA NA 0.9799242 0.9799684 -0.1299242 NA NA NA FALSE 0.064 0 . splice_region_variant&intron_variant LOW STAB2 HGNC 18629 ENST00000388887 43/68 rs571201067 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 GAC A,G 0.0003953 12:103717766 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 splice_region_variant -0.027063 0.21065 0.01218 0.080785 0.7030616 0.105903 4.175676e-28 FALSE 0.000398251 ENSE00001504278_012 ENSE00001504278 012 12 104111494 104111663 + 54 72 44 G T 104111565 2912 72 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTTCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 103717786 103717787 103717787 exon 18 0.25 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTTCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 600 276 0.9987296 0.9930917 0.9959106 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.005180979 0.02670359 0.9799242 0.9799684 NA 0.01594229 NA FALSE NA 0.998 1.521 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 44/69 1 deleterious(0.01) probably_damaging(0.997) NA TGC G,T 8.236e-06 12:103717787 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 missense_variant 5.096183 0.97546 0.83777 0.516011 0.9984807 0 4.175676e-28 FALSE 4.06227e-06 ENSE00001504278_013 ENSE00001504278 013 12 104111494 104111663 + 54 72 44 C T 104111574 2913 81 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATATACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 103717795 103717796 103717796 exon 27 0.375 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATATACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 37 916 1 0.9988703 0.9994351 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.006451358 0.03248221 0.9799242 0.9799684 NA 0.01946678 NA FALSE NA 1 2.809 rs138243582 synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 44/69 rs138243582 1 NA T:0.0002 T:0.0001 ACA C,T 8.236e-06 12:103717796 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 synonymous_variant 0.07715 0.98092 0.62529 0.516011 0.4923268 0 4.175676e-28 FALSE 4.06243e-06 ENSE00001504278_014 ENSE00001504278 014 12 104111494 104111663 + 54 72 44 C T 104111576 2914 83 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACATTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 103717797 103717798 103717798 exon 29 0.4027778 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACATTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 70 74 1 1 1 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.006451358 0.03361192 0.9799242 0.9799684 NA 0.02003164 NA FALSE NA 0.998 3.751 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 44/69 rs537041300 1 deleterious(0.01) possibly_damaging(0.82) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACT C,T 8.236e-06 12:103717798 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 missense_variant 5.354162 0.98925 0.92938 0.516011 0.9981367 0 4.175676e-28 FALSE 8.1248e-06 ENSE00001504278_016 ENSE00001504278 016 12 104111494 104111663 + 54 72 44 T A 104111583 2916 90 GGGCTCTGAGGCTTGAAGGATATCCACCCTAGAGCCATACTCACAGTTAAGCAGACATTGATGAGTGTGCAGACCTTTCCTTCTCCAGTGTATGCTGGCAAACAGTTACAGGCAGCCTGTCCAGGAGTAGAAGCACATGGGGTCATTTTGCAGGTGGGTTCTGTACTGGC 103717715 103717885 103717804 103717805 103717805 exon 36 0.5 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGAAGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 137 167 1 0.9986209 0.9993104 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.006451358 0.03223278 0.9799242 0.9799684 NA 0.01934207 NA FALSE NA 0.416 -0.632 NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103717805 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 missense_variant 2.776792 0.8978 0.36783 0.516011 0.9486132 0 4.175676e-28 FALSE 4.0627e-06 ENSE00001504278_017 ENSE00001504278 017 12 104111494 104111663 + 54 72 44 A G 104111587 2917 94 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAGAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 103717808 103717809 103717809 exon -33 0.5555556 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAGAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 35 232 1 1 1 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.006451358 0.03361192 0.9799242 0.9799684 NA 0.02003164 NA FALSE NA 1 4.609 rs185812040 missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 44/69 rs185812040 1 deleterious(0.01) probably_damaging(0.936) G:0.0006 G:0 G:0 NA G:0.003 G:0 G:0 AAA A,G 0.0005024 12:103717809 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 missense_variant 3.862993 0.45876 0.80179 0.516011 0.9940905 0 4.175676e-28 FALSE 0.000495645 ENSE00001504278_020 ENSE00001504278 020 12 104111494 104111663 + 54 72 44 A G 104111598 2920 105 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACGCTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 103717819 103717820 103717820 exon -22 0.7083333 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACGCTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 160 35 1 1 1 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.006451358 0.03361192 0.9799242 0.9799684 NA 0.02003164 NA FALSE NA 0 -6.071 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 44/69 1 NA CAC G,G 8.236e-06 12:103717820 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 synonymous_variant -1.293764 0.12429 0.00336 0.516011 0.5822166 0 4.175676e-28 FALSE 8.12764e-06 ENSE00001504278_021 ENSE00001504278 021 12 104111494 104111663 + 54 72 44 A G 104111606 2921 113 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAGTGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 103717827 103717828 103717828 exon -14 0.8194444 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAGTGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 13 14 1 1 1 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.006451358 0.03361192 0.9799242 0.9799684 NA 0.02003164 NA FALSE NA 0.791 1.257 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 44/69 1 tolerated(0.24) benign(0.043) NA AAT A,G 1.647e-05 12:103717828 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 missense_variant 0.09607 0.85632 0.44847 0.487112 0.8815552 0 4.175676e-28 FALSE 8.12876e-06 ENSE00001504278_023 ENSE00001504278 023 12 104111494 104111663 + 54 72 44 G A 104111620 2923 127 GGGCTCTGAGGCTTGAAGGATATCCACCCTAGAGCCATACTCATAGTTAAGCAGACATTGATGAGTGTGCAGACCTTTCCATCTCCAGTGTATGCTGGCAAACAGTTACAGGCAGCCTGTCCAGGAGTAGAAGCACATGGGGTCATTTTGCAGGTGGGTTCTGTACTGGC 103717715 103717885 103717841 103717842 103717842 downstr_intron 1 1.023256 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTATGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant 32 31 0 0 0 171 344 0.002868792 0.1780342 0.09045148 0.968171 0.9916774 0.9935486 0.9663881 -0.968171 -0.9916774 -0.9906798 -0.7883539 0.9799242 0.9799684 -0.9799242 -0.8895169 0.09040732 TRUE TRUE 1 6.691 . splice_donor_variant HIGH STAB2 HGNC 18629 ENST00000388887 44/68 1 NA HC TGT G,A 8.237e-06 12:103717842 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 splice_donor_variant 4.068837 0.98968 0.96392 0.061011 0.9890578 0.973028 4.175676e-28 FALSE 8.13134e-06 ENSE00001504278_026 ENSE00001504278 026 12 104111494 104111663 + 54 72 44 C T 104111646 2926 153 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCTTTCAAGCCTCAGAGCCC 103717715 103717885 103717867 103717868 103717868 downstr_intron 27 1.627907 GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCTTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC mutant NA NA NA NA NA 682 132 0.9990913 0.9988 0.9989457 0.968171 0.9916774 0.9935486 0.9663881 NA NA 0.005542692 0.0324119 0.9799242 0.9799684 NA 0.01897729 NA FALSE NA 0 -0.433 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 44/68 1 NA CCT C,T 8.236e-06 12:103717868 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00001504278 intron_variant -0.041574 0.14058 0.01159 0.061011 0.3906947 0.0448725 4.175676e-28 FALSE 4.07767e-06 ENSE00001504278_BRK ENSE00001504278 BRK 12 104111494 104111663 + 54 72 44 A,G; T,T NA NA NA GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACTTGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTCCGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC 103717715 103717885 NA NA NA NA NA NA GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACTTGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTCCGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC GCCAGTACAGAACCCACCTGCAAAATGACCCCATGTGCTTCTACTCCTGGACAGGCTGCCTGTAACTGTTTGCCAGCATACACTGGAGATGGAAAGGTCTGCACACTCATCAATGTCTGCTTAACTGTGAGTATGGCTCTAGGGTGGATATCCTTCAAGCCTCAGAGCCC control 69 120 0 0 0 899 605 0.003696487 0.006959337 0.005327912 0.968171 0.9916774 0.9935486 0.9663881 -0.968171 -0.9916774 -0.9898522 -0.9594287 0.9799242 0.9799684 -0.9799242 -0.9746405 0.005283749 TRUE TRUE NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00001504278 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00001504580_000 ENSE00001504580 000 12 56651574 56651743 - 38 84 48 NA NA NA NA NA TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC 56257789 56257959 NA NA NA NA NA NA TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC natural 272 509 0.8577046 0.8478182 0.8527614 1190 738 0.8127198 0.8956914 0.8542056 0.8577046 0.8478182 0.8127198 0.8956914 0 0 0 0 0.8527614 0.8542056 0 0 0 FALSE FALSE NA NA NA NA NA ANKRD52 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD52 NA NA NA ENSG00000139645 ENSE00001504580 NA NA NA NA NA NA NA 0.999988 TRUE NA ENSE00001504580_004 ENSE00001504580 004 12 56651574 56651743 - 38 84 48 A G 56651590 2062 154 TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGACGGCGAGACCGGAATCC 56257789 56257959 56257805 56257806 56257806 downstr_intron 22 1.594595 TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGACGGCGAGACCGGAATCC TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC mutant NA NA NA NA NA 46 282 0.8 0.8133578 0.8066789 0.8577046 0.8478182 0.8127198 0.8956914 NA NA -0.01271984 -0.08233361 0.8527614 0.8542056 NA -0.04752672 NA FALSE NA 0.933 1.894 . upstream_gene_variant MODIFIER ANKRD52 HGNC 26614 ENST00000551023 1 NA CAT A,G 1.655e-05 12:56257806 ANKRD52 HGNC Symbol protein_coding 20584 ENSG00000139645 ENSE00001504580 intron_variant 1.777406 0.85797 0.37165 0.08998 0.8266481 0.424176 0.999988 TRUE 8.27568e-06 ENSE00001504580_008 ENSE00001504580 008 12 56651574 56651743 - 38 84 48 T C 56651619 2066 125 TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAGTGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC 56257789 56257959 56257834 56257835 56257835 exon -8 0.9166667 TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAGTGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC mutant 16 95 0.85 0.85 0.85 NA NA NA NA NA 0.8577046 0.8478182 0.8127198 0.8956914 -0.007704619 0.002181785 NA NA 0.8527614 0.8542056 -0.002761417 NA NA NA FALSE 1 5.655 . upstream_gene_variant MODIFIER ANKRD52 HGNC 26614 ENST00000551023 1 NA ATT T,C 4.961e-05 12:56257835 ANKRD52 HGNC Symbol protein_coding 20584 ENSG00000139645 ENSE00001504580 missense_variant 3.665443 0.96281 0.89321 0.733237 0.9977979 0 0.999988 TRUE 3.66898e-05 ENSE00001504580_013 ENSE00001504580 013 12 56651574 56651743 - 38 84 48 T G 56651642 2071 102 TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTCCTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC 56257789 56257959 56257857 56257858 56257858 exon -31 0.6428571 TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTCCTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC mutant NA NA NA NA NA 580 388 0.7963299 0.8 0.7981649 0.8577046 0.8478182 0.8127198 0.8956914 NA NA -0.01638999 -0.09569142 0.8527614 0.8542056 NA -0.0560407 NA FALSE NA 0.997 0.541 . upstream_gene_variant MODIFIER ANKRD52 HGNC 26614 ENST00000551023 1 NA GTA T,G 8.27e-06 12:56257858 ANKRD52 HGNC Symbol protein_coding 20584 ENSG00000139645 ENSE00001504580 synonymous_variant 0.51815 0.88314 0.40113 0.733237 0.7369314 0 0.999988 TRUE 4.07189e-06 ENSE00001504580_019 ENSE00001504580 019 12 56651574 56651743 - 38 84 48 G C 56651710 2077 34 TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCGGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC 56257789 56257959 56257925 56257926 56257926 upstr_intron -15 -0.2916667 TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCGGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC mutant 168 22 0.007820372 0 0.003910186 58 34 0 0 0 0.8577046 0.8478182 0.8127198 0.8956914 -0.8498842 -0.8478182 -0.8127198 -0.8956914 0.8527614 0.8542056 -0.8488512 -0.8542056 0.005354398 TRUE TRUE 0.99 1.034 . upstream_gene_variant MODIFIER ANKRD52 HGNC 26614 ENST00000551023 rs200163647 1 NA C:0.0005 C:0.0004 CGG G,C 0.0006375 12:56257926 ANKRD52 HGNC Symbol protein_coding 20584 ENSG00000139645 ENSE00001504580 intron_variant 0.053047 0.83296 0.30001 0 0.6745875 0.181099 0.999988 TRUE 0.000590895 ENSE00001504580_023 ENSE00001504580 023 12 56651574 56651743 - 38 84 48 G T 56651726 2081 18 TTCCGCTCCGGCTCCAGACCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC 56257789 56257959 56257941 56257942 56257942 upstr_intron -31 -0.625 TTCCGCTCCGGCTCCAGACCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC mutant 21 13 0.85 0.85 0.85 NA NA NA NA NA 0.8577046 0.8478182 0.8127198 0.8956914 -0.007704619 0.002181785 NA NA 0.8527614 0.8542056 -0.002761417 NA NA NA FALSE 0.969 0.925 . upstream_gene_variant MODIFIER ANKRD52 HGNC 26614 ENST00000551023 rs375769590 1 NA T:0 T:0.0001 GGC G,T 3.314e-05 12:56257942 ANKRD52 HGNC Symbol protein_coding 20584 ENSG00000139645 ENSE00001504580 intron_variant 0.405224 0.92164 0.7249 0 0.7287008 0.712959 0.999988 TRUE 3.32425e-05 ENSE00001504580_024 ENSE00001504580 024 12 56651574 56651743 - 38 84 48 T C 56651728 2082 16 TTCCGCTCCGGCTCCGGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC 56257789 56257959 56257943 56257944 56257944 upstr_intron -33 -0.6666667 TTCCGCTCCGGCTCCGGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC mutant 13 54 0.85 0.85 0.85 NA NA NA NA NA 0.8577046 0.8478182 0.8127198 0.8956914 -0.007704619 0.002181785 NA NA 0.8527614 0.8542056 -0.002761417 NA NA NA FALSE 0.022 -0.355 . upstream_gene_variant MODIFIER ANKRD52 HGNC 26614 ENST00000551023 rs201831319 1 C:0.0014 C:0 C:0 NA C:0.0069 C:0 C:0 CTG T,C 0.001119 12:56257944 ANKRD52 HGNC Symbol protein_coding 20584 ENSG00000139645 ENSE00001504580 intron_variant 0.366977 0.78942 0.02054 0 0.6590817 0.223633 0.999988 TRUE 0.00122271 ENSE00001504580_025 ENSE00001504580 025 12 56651574 56651743 - 38 84 48 C G 56651733 2083 11 TTCCGCTCCGCCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC 56257789 56257959 56257948 56257949 56257949 upstr_intron -38 -0.7708333 TTCCGCTCCGCCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC TTCCGCTCCGGCTCCAGCCCGCTCTCAGAATGCCGGTTCTCTCTGCAGCCGCCCCTGGTCCAGGCCATCTTTAGCCGAGATGTGGAGGAAGTGCGTTCCCTACTCTCGCAGAAGGAGAACATCAATGTGCTGGTGAGTTGGGAGCAGGGAGGATGGCGAGACCGGAATCC mutant 44 65 0.8864311 0.9227568 0.904594 22 33 1 0.8 0.9 0.8577046 0.8478182 0.8127198 0.8956914 0.02872648 0.07493862 0.1872802 -0.09569142 0.8527614 0.8542056 0.05183255 0.04579437 0.006038179 FALSE FALSE 0.48 0.774 . upstream_gene_variant MODIFIER ANKRD52 HGNC 26614 ENST00000551023 1 NA GCC C,G 8.287e-06 12:56257949 ANKRD52 HGNC Symbol protein_coding 20584 ENSG00000139645 ENSE00001504580 intron_variant 0.748726 0.9379 0.31962 0 0.7392786 0.956397 0.999988 TRUE NA ENSE00001505581_000 ENSE00001505581 000 16 70287581 70287750 - 36 87 47 NA NA NA NA NA GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 NA NA NA NA NA NA GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC natural 115 148 0.9993964 0.9970882 0.9982423 347 1214 0.9822027 0.9850828 0.9836428 0.9993964 0.9970882 0.9822027 0.9850828 0 0 0 0 0.9982423 0.9836428 0 0 0 FALSE FALSE NA NA NA NA NA AARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AARS NA NA NA ENSG00000090861 ENSE00001505581 NA NA NA NA NA NA NA 4.678315e-05 FALSE NA ENSE00001505581_001 ENSE00001505581 001 16 70287581 70287750 - 36 87 47 C T 70287599 2421 152 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGATCCCCTCCCCTAGGGCTC 70253677 70253847 70253695 70253696 70253696 downstr_intron 18 1.514286 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGATCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant NA NA NA NA NA 129 1005 1 0.9940523 0.9970262 0.9993964 0.9970882 0.9822027 0.9850828 NA NA 0.01779727 0.008969511 0.9982423 0.9836428 NA 0.01338339 NA FALSE NA 0.001 0.506 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 1 NA ACC C,T 8.236e-06 16:70253696 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 non_coding_transcript_exon_variant 0.449017 0.1119 0.10225 0.256867 0.6107771 0.0577291 4.678315e-05 FALSE NA ENSE00001505581_003 ENSE00001505581 003 16 70287581 70287750 - 36 87 47 G T 70287610 2423 141 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCAAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253706 70253707 70253707 downstr_intron 7 1.2 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCAAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 29 41 1 0.9969241 0.998462 36 32 1 1 1 0.9993964 0.9970882 0.9822027 0.9850828 0.0006035735 -0.0001640952 0.01779727 0.01491721 0.9982423 0.9836428 0.0002197392 0.01635724 0.0161375 FALSE FALSE 0 -2.406 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 1 NA TGG N,T 8.236e-06 16:70253707 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 splice_region_variant 0.213124 0.09644 0.12695 0.256867 0.747271 0.0962599 4.678315e-05 FALSE NA ENSE00001505581_006 ENSE00001505581 006 16 70287581 70287750 - 36 87 47 C T 70287628 2426 123 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCACCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253724 70253725 70253725 exon -12 0.8735632 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCACCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 30 20 1 1 1 NA NA NA NA NA 0.9993964 0.9970882 0.9822027 0.9850828 0.0006035735 0.002911826 NA NA 0.9982423 0.9836428 0.0017577 NA NA NA FALSE 1 7.368 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 rs374478964 1 NA T:0 T:0.0001 GCG C,T 8.236e-06 16:70253725 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 missense_variant 5.304951 0.95505 0.98255 0.751926 0.9985572 0 4.678315e-05 FALSE 2.03188e-05 ENSE00001505581_009 ENSE00001505581 009 16 70287581 70287750 - 36 87 47 C T 70287638 2429 113 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATAGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253734 70253735 70253735 exon -22 0.7586207 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATAGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 27 20 0.9986616 0.9997344 0.999198 NA NA NA NA NA 0.9993964 0.9970882 0.9822027 0.9850828 -0.0007348378 0.002646217 NA NA 0.9982423 0.9836428 0.0009556894 NA NA NA FALSE 1 7.368 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 1 NA CCA C,T 8.236e-06 16:70253735 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 missense_variant 3.597159 0.95098 0.97926 0.751926 0.9904387 0 4.678315e-05 FALSE NA ENSE00001505581_011 ENSE00001505581 011 16 70287581 70287750 - 36 87 47 G C 70287655 2431 96 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTGTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253751 70253752 70253752 exon -39 0.5632184 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTGTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 12 22 0.9968422 1 0.9984211 NA NA NA NA NA 0.9993964 0.9970882 0.9822027 0.9850828 -0.002554181 0.002911826 NA NA 0.9982423 0.9836428 0.0001788226 NA NA NA FALSE 1 6.159 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 1 NA AGA G,C 8.236e-06 16:70253752 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 missense_variant 2.270705 0.94715 0.98165 0.751926 0.8700809 0 4.678315e-05 FALSE 4.06151e-06 ENSE00001505581_014 ENSE00001505581 014 16 70287581 70287750 - 36 87 47 C G 70287659 2434 92 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCACCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253755 70253756 70253756 exon -43 0.5172414 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCACCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 27 21 1 1 1 316 56 0.8234068 0.863263 0.8433349 0.9993964 0.9970882 0.9822027 0.9850828 0.0006035735 0.002911826 -0.1587959 -0.1218198 0.9982423 0.9836428 0.0017577 -0.1403079 0.1420656 FALSE FALSE 1 1.075 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 1 NA GCT C,G 2.471e-05 16:70253756 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 missense_variant 3.696515 0.86324 0.94678 0.751926 0.9911631 0 4.678315e-05 FALSE 1.21855e-05 ENSE00001505581_015 ENSE00001505581 015 16 70287581 70287750 - 36 87 47 C T 70287672 2435 79 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAACAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253768 70253769 70253769 exon 32 0.3678161 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAACAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant NA NA NA NA NA 386 81 0.9824837 0.948077 0.9652803 0.9993964 0.9970882 0.9822027 0.9850828 NA NA 0.0002809462 -0.0370058 0.9982423 0.9836428 NA -0.01836243 NA FALSE NA 1 1.926 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 rs368011194 1 NA T:0 T:0.0001 GCT C,T 8.236e-06 16:70253769 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 missense_variant 2.035279 0.86263 0.91969 0.751926 0.9537721 0 4.678315e-05 FALSE 1.21848e-05 ENSE00001505581_016 ENSE00001505581 016 16 70287581 70287750 - 36 87 47 G A 70287674 2436 77 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGATAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253770 70253771 70253771 exon 30 0.3448276 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGATAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 13 45 1 0.9233693 0.9616846 82 52 1 1 1 0.9993964 0.9970882 0.9822027 0.9850828 0.0006035735 -0.0737189 0.01779727 0.01491721 0.9982423 0.9836428 -0.03655766 0.01635724 0.0529149 FALSE FALSE 0.922 -0.012 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 rs575239120 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGT G,A 8.236e-06 16:70253771 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 synonymous_variant 0.474012 0.82748 0.83636 0.751926 0.6866888 0 4.678315e-05 FALSE 4.06164e-06 ENSE00001505581_017 ENSE00001505581 017 16 70287581 70287750 - 36 87 47 C T 70287676 2437 75 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCAACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253772 70253773 70253773 exon 28 0.3218391 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCAACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant NA NA NA NA NA 109 120 0.1100668 0.2220268 0.1660468 0.9993964 0.9970882 0.9822027 0.9850828 NA NA -0.8721359 -0.763056 0.9982423 0.9836428 NA -0.8175959 NA TRUE NA 1 4.469 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 COSM972985 1 NA TCG C,T 2.471e-05 16:70253773 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 missense_variant 3.543075 0.92001 0.96365 0.751926 0.9969447 0 4.678315e-05 FALSE 3.65536e-05 ENSE00001505581_018 ENSE00001505581 018 16 70287581 70287750 - 36 87 47 G A 70287677 2438 74 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATTGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253773 70253774 70253774 exon 27 0.3103448 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATTGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 39 23 0.9701806 1 0.9850903 34 19 1 1 1 0.9993964 0.9970882 0.9822027 0.9850828 -0.02921581 0.002911826 0.01779727 0.01491721 0.9982423 0.9836428 -0.01315199 0.01635724 0.02950923 FALSE FALSE 0.003 -1.159 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AARS HGNC 20 ENST00000569825 5/5 1 NA CGA N,A 2.471e-05 16:70253774 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 synonymous_variant 0.84996 0.74006 0.29977 0.751926 0.6523666 0 4.678315e-05 FALSE 2.84294e-05 ENSE00001505581_022 ENSE00001505581 022 16 70287581 70287750 - 36 87 47 A T 70287713 2442 38 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTATTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253809 70253810 70253810 upstr_intron -10 -0.1914894 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTATTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 39 40 1 1 1 NA NA NA NA NA 0.9993964 0.9970882 0.9822027 0.9850828 0.0006035735 0.002911826 NA NA 0.9982423 0.9836428 0.0017577 NA NA NA FALSE 0.011 0.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:70253810 AARS HGNC Symbol protein_coding 37248 ENSG00000090861 ENSE00001505581 intron_variant -0.329901 0.15829 0.31534 0.115753 0.7679073 0.161562 4.678315e-05 FALSE 4.06098e-06 ENSE00001505581_023 ENSE00001505581 023 16 70287581 70287750 - 36 87 47 A G 70287713 2443 38 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTCTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 70253809 70253810 70253810 upstr_intron -10 -0.1914894 GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTCTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC mutant 10 14 1 1 1 NA NA NA NA NA 0.9993964 0.9970882 0.9822027 0.9850828 0.0006035735 0.002911826 NA NA 0.9982423 0.9836428 0.0017577 NA NA NA FALSE 0.011 0.19 NA NA NA AARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AARS NA NA NA ENSG00000090861 ENSE00001505581 intron_variant -0.153113 0.11948 0.07427 0.115753 0.6379164 0.161562 4.678315e-05 FALSE NA ENSE00001505581_BRK ENSE00001505581 BRK 16 70287581 70287750 - 36 87 47 A,G; T,T NA NA NA GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCTTGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGCCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC 70253677 70253847 NA NA NA NA NA NA GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCTTGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGCCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC GCCTGGGCTTTTGGTCTGAGCTGCTGTTCTGGACTTTTTTCTTGCAGGTGTTAGAGAAGACGAAGCAGTTCATCGACAGCAACCCCAACCAGCCTCTTGTCATCCTGGAGATGGAGAGCGGCGCCTCAGCCAAGGCAACCCAGGGGCCAGGGTCCCCTCCCCTAGGGCTC control NA NA NA NA NA 264 441 0 0.0007259284 0.0003629642 0.9993964 0.9970882 0.9822027 0.9850828 NA NA -0.9822027 -0.9843569 0.9982423 0.9836428 NA -0.9832798 NA TRUE NA NA NA NA NA NA AARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AARS NA NA NA ENSG00000090861 ENSE00001505581 NA NA NA NA NA NA NA 4.678315e-05 FALSE NA ENSE00001505837_000 ENSE00001505837 000 17 16330722 16330891 + 41 99 30 NA NA NA NA NA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 NA NA NA NA NA NA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA natural NA NA NA NA NA 300 121 0.9912223 0.9986907 0.9949565 NA NA 0.9912223 0.9986907 NA NA 0 0 NA 0.9949565 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPV2 NA NA NA ENSG00000187688 ENSE00001505837 NA NA NA NA NA NA NA 0.005629157 FALSE NA ENSE00001505837_002 ENSE00001505837 002 17 16330722 16330891 + 41 99 30 G T 16330733 779 12 GAGGACCCAAGTCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427418 16427419 16427419 upstr_intron -30 -0.7073171 GAGGACCCAAGTCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 43 322 1 1 1 NA NA 0.9912223 0.9986907 NA NA 0.008777668 0.001309302 NA 0.9949565 NA 0.005043485 NA FALSE NA 0 -0.239 NA NA NA TRPV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:16427419 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 intron_variant 0.195932 0.23087 0.1312 0.256867 0.7910537 0.123323 0.005629157 FALSE 1.23192e-05 ENSE00001505837_004 ENSE00001505837 004 17 16330722 16330891 + 41 99 30 T C 16330748 781 27 GAGGACCCAAGGCCCTAGGTCTCATCCGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427433 16427434 16427434 upstr_intron -15 -0.3414634 GAGGACCCAAGGCCCTAGGTCTCATCCGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 81 106 0.9592732 0.9894097 0.9743414 NA NA 0.9912223 0.9986907 NA NA -0.03194913 -0.009281006 NA 0.9949565 NA -0.02061507 NA FALSE NA 0 -1.333 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA CTG T,C 8.237e-06 17:16427434 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 intron_variant 1.44347 0.18221 0.04295 0.256867 0.7801925 0.124323 0.005629157 FALSE NA ENSE00001505837_005 ENSE00001505837 005 17 16330722 16330891 + 41 99 30 G C 16330749 782 28 GAGGACCCAAGGCCCTAGGTCTCATCTCAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427434 16427435 16427435 upstr_intron -14 -0.3170732 GAGGACCCAAGGCCCTAGGTCTCATCTCAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant 10 15 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9912223 0.9986907 NA NA NA NA NA 0.9949565 NA NA NA NA NA 0 0.543 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA TGA G,C 8.237e-06 17:16427435 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 intron_variant 1.303597 0.22999 0.213 0.256867 0.7600763 0.124323 0.005629157 FALSE NA ENSE00001505837_007 ENSE00001505837 007 17 16330722 16330891 + 41 99 30 G A 16330753 784 32 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTATGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427438 16427439 16427439 upstr_intron -10 -0.2195122 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTATGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 15 223 1 1 1 NA NA 0.9912223 0.9986907 NA NA 0.008777668 0.001309302 NA 0.9949565 NA 0.005043485 NA FALSE NA 0.001 -0.284 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA TGT G,A 8.237e-06 17:16427439 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 intron_variant 1.988973 0.30981 0.07888 0.256867 0.8561227 0.222584 0.005629157 FALSE 4.07093e-06 ENSE00001505837_009 ENSE00001505837 009 17 16330722 16330891 + 41 99 30 C T 16330768 786 47 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCTGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427453 16427454 16427454 exon 6 0.06060606 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCTGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 86 187 1 0.9573382 0.9786691 NA NA 0.9912223 0.9986907 NA NA 0.008777668 -0.04135251 NA 0.9949565 NA -0.01628742 NA FALSE NA 0 -0.669 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA CCG C,T 2.471e-05 17:16427454 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 synonymous_variant 1.616234 0.18711 0.04566 0.67177 0.7247991 0 0.005629157 FALSE 3.25259e-05 ENSE00001505837_010 ENSE00001505837 010 17 16330722 16330891 + 41 99 30 G A 16330769 787 48 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCACCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427454 16427455 16427455 exon 7 0.07070707 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCACCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 85 20 1 1 1 NA NA 0.9912223 0.9986907 NA NA 0.008777668 0.001309302 NA 0.9949565 NA 0.005043485 NA FALSE NA 0 -0.161 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA CGC G,A 1.647e-05 17:16427455 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 missense_variant 0.315236 0.21686 0.04705 0.67177 0.8050445 0 0.005629157 FALSE 1.62628e-05 ENSE00001505837_011 ENSE00001505837 011 17 16330722 16330891 + 41 99 30 T A 16330774 788 53 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCACACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427459 16427460 16427460 exon 12 0.1212121 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCACACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 50 154 1 0.9969783 0.9984892 NA NA 0.9912223 0.9986907 NA NA 0.008777668 -0.001712394 NA 0.9949565 NA 0.003532637 NA FALSE NA 0 -1.841 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA CTC T,A 8.236e-06 17:16427460 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 synonymous_variant -0.480008 0.17292 0.04361 0.67177 0.5852279 0 0.005629157 FALSE NA ENSE00001505837_012 ENSE00001505837 012 17 16330722 16330891 + 41 99 30 C T 16330775 789 54 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTTACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427460 16427461 16427461 exon 13 0.1313131 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTTACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 39 238 1 0.9847576 0.9923788 NA NA 0.9912223 0.9986907 NA NA 0.008777668 -0.01393308 NA 0.9949565 NA -0.002577706 NA FALSE NA 0 -0.047 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA TCA C,T 2.471e-05 17:16427461 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 missense_variant -1.3324 0.22739 0.06753 0.67177 0.6674106 0 0.005629157 FALSE 2.43803e-05 ENSE00001505837_013 ENSE00001505837 013 17 16330722 16330891 + 41 99 30 G A 16330786 790 65 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCAGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427471 16427472 16427472 exon 24 0.2424242 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCAGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant 14 28 0.85 0.85 0.85 279 128 0.7769258 0.8268852 0.8019055 NA NA 0.9912223 0.9986907 NA NA -0.2142965 -0.1718055 NA 0.9949565 NA -0.193051 NA FALSE NA 0 -2.998 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 rs546804162&COSM1163144 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 9.06e-05 17:16427472 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 synonymous_variant 0.552052 0.13905 0.02914 0.67177 0.586783 0 0.005629157 FALSE 9.74984e-05 ENSE00001505837_017 ENSE00001505837 017 17 16330722 16330891 + 41 99 30 G A 16330813 794 92 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACAGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427498 16427499 16427499 exon -49 0.5151515 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACAGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 100 97 0.98516 0.9821077 0.9836339 NA NA 0.9912223 0.9986907 NA NA -0.00606233 -0.01658298 NA 0.9949565 NA -0.01132266 NA FALSE NA 0.997 1.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001505837 synonymous_variant 0.250264 0.38207 0.4355 0.67177 0.6897195 0 0.0002572748 FALSE 1.21881e-05 ENSE00001505837_023 ENSE00001505837 023 17 16330722 16330891 + 41 99 30 G C 16330839 800 118 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGCGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427524 16427525 16427525 exon -23 0.7777778 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGCGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 241 55 0.9948735 0.8 0.8974367 NA NA 0.9912223 0.9986907 NA NA 0.003651157 -0.1986907 NA 0.9949565 NA -0.09751977 NA FALSE NA 1 3.831 NA NA NA TRPV2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPV2 NA NA NA ENSG00000187688 ENSE00001505837 missense_variant 0.514596 0.90444 0.81926 0.67177 0.7768758 0 0.005629157 FALSE 4.10256e-06 ENSE00001506418_000 ENSE00001506418 000 15 41771259 41771428 + 42 96 32 NA NA NA NA NA CTCAGCAGGCAACAGGGTGGTACCACACTTGCCTTGCTCATTTCCTTTGGAGCATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAATAAGTTGTTTTAGAGATTGCTTGACACTC 41479060 41479230 NA NA NA NA NA NA GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG natural 103 258 0.9498313 0.9026357 0.9262335 2026 3905 0.8931289 0.9335291 0.913329 0.9498313 0.9026357 0.8931289 0.9335291 0 0 0 0 0.9262335 0.913329 0 0 0 FALSE FALSE NA NA NA NA NA RTF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RTF1 NA NA NA ENSG00000137815 ENSE00003661749 NA NA NA NA NA NA NA 0.9936378 TRUE NA ENSE00001506418_001 ENSE00001506418 001 15 41771259 41771428 + 42 96 32 A G 41771271 615 13 CTCAGCAGGCAACAGGGTGGTACCACACTTGCCTTGCTCATTTCCTTTGGAGCATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAATAAGTTGTTTTAGAGACTGCTTGACACTC 41479060 41479230 41479072 41479073 41479073 upstr_intron -30 -0.6904762 GAGTGTCAAGCAGTCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG mutant 46 25 0.85 0.85 0.85 NA NA NA NA NA 0.9498313 0.9026357 0.8931289 0.9335291 -0.09983125 -0.05263573 NA NA 0.9262335 0.913329 -0.07623349 NA NA NA FALSE 0 -0.317 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 rs370815893 1 NA G:0 G:0.0002 AAT A,G 8.237e-06 15:41479073 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003661749 intron_variant 2.253508 0.1429 0.00765 0.156188 0.8273163 0.381093 0.9936378 TRUE NA ENSE00001506418_002 ENSE00001506418 002 15 41771259 41771428 + 42 96 32 A C 41771278 616 20 CTCAGCAGGCAACAGGGTGGTACCACACTTGCCTTGCTCATTTCCTTTGGAGCATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAATAAGTTGTTGTAGAGATTGCTTGACACTC 41479060 41479230 41479079 41479080 41479080 upstr_intron -23 -0.5238095 GAGTGTCAAGCAATCTCTACAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG mutant 18 22 0.85 0.85 0.85 NA NA NA NA NA 0.9498313 0.9026357 0.8931289 0.9335291 -0.09983125 -0.05263573 NA NA 0.9262335 0.913329 -0.07623349 NA NA NA FALSE 0.026 2.806 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA AAA A,C 8.236e-06 15:41479080 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003661749 intron_variant 2.178268 0.22306 0.11531 0.295142 0.8957497 0.40959 0.9936378 TRUE 4.08814e-06 ENSE00001506418_003 ENSE00001506418 003 15 41771259 41771428 + 42 96 32 T C 41771288 617 30 CTCAGCAGGCAACAGGGTGGTACCACACTTGCCTTGCTCATTTCCTTTGGAGCATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAGTAAGTTGTTTTAGAGATTGCTTGACACTC 41479060 41479230 41479089 41479090 41479090 upstr_intron -13 -0.2857143 GAGTGTCAAGCAATCTCTAAAACAACTTACTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG mutant 328 435 0.85 0.85 0.85 NA NA NA NA NA 0.9498313 0.9026357 0.8931289 0.9335291 -0.09983125 -0.05263573 NA NA 0.9262335 0.913329 -0.07623349 NA NA NA FALSE 0.021 0.249 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 rs537357096 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATT T,C 3.295e-05 15:41479090 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003661749 intron_variant 1.2548 0.94598 0.18658 0.295142 0.8327923 0.477055 0.9936378 TRUE 1.6312e-05 ENSE00001506418_009 ENSE00001506418 009 15 41771259 41771428 + 42 96 32 C T 41771377 623 119 CTCAGCAGGCAACAGGGTGGTACCACACTTGCCTTGCTCATTTCCTTTGGAACATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAATAAGTTGTTTTAGAGATTGCTTGACACTC 41479060 41479230 41479178 41479179 41479179 exon -20 0.8020833 GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGTTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG mutant NA NA NA NA NA 462 462 1 0.995048 0.997524 0.9498313 0.9026357 0.8931289 0.9335291 NA NA 0.1068711 0.06151885 0.9262335 0.913329 NA 0.08419496 NA FALSE NA 1 2.987 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA GCT C,T 8.236e-06 15:41479179 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003661749 missense_variant 3.522518 0.98507 0.98411 0.706548 0.9919211 0 0.9936378 TRUE 2.03087e-05 ENSE00001506418_010 ENSE00001506418 010 15 41771259 41771428 + 42 96 32 A C 41771381 624 123 CTCAGCAGGCAACAGGGTGGTACCACACTTGCCTTGCTCATTTCCTTGGGAGCATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAATAAGTTGTTTTAGAGATTGCTTGACACTC 41479060 41479230 41479182 41479183 41479183 exon -16 0.84375 GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCCAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG mutant 11 10 1 1 1 NA NA NA NA NA 0.9498313 0.9026357 0.8931289 0.9335291 0.05016875 0.09736427 NA NA 0.9262335 0.913329 0.07376651 NA NA NA FALSE 0.995 0.512 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA CAA A,C 8.236e-06 15:41479183 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003661749 synonymous_variant 0.215669 0.97139 0.90565 0.706548 0.7510399 0 0.9936378 TRUE 4.06174e-06 ENSE00001506418_012 ENSE00001506418 012 15 41771259 41771428 + 42 96 32 C T 41771398 626 140 CTCAGCAGGCAACAGGGTGGTACCACACTTACCTTGCTCATTTCCTTTGGAGCATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAATAAGTTGTTTTAGAGATTGCTTGACACTC 41479060 41479230 41479199 41479200 41479200 downstr_intron 2 1.064516 GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGTAAGTGTGGTACCACCCTGTTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG mutant NA NA NA NA NA 216 275 0.997691 1 0.9988455 0.9498313 0.9026357 0.8931289 0.9335291 NA NA 0.1045621 0.06647085 0.9262335 0.913329 NA 0.08551647 NA FALSE NA 1 1.07 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA GCA C,T 8.236e-06 15:41479200 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003661749 splice_donor_variant 3.198987 0.96728 0.76885 0.156188 0.7377941 0.530938 0.9936378 TRUE 4.06636e-06 ENSE00001506418_013 ENSE00001506418 013 15 41771259 41771428 + 42 96 32 A G 41771408 627 150 CTCAGCAGGCAACAGGGTGGCACCACACTTGCCTTGCTCATTTCCTTTGGAGCATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAATAAGTTGTTTTAGAGATTGCTTGACACTC 41479060 41479230 41479209 41479210 41479210 downstr_intron 12 1.387097 GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTGCCACCCTGTTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG mutant NA NA NA NA NA 552 213 0.9930543 0.9970891 0.9950717 0.9498313 0.9026357 0.8931289 0.9335291 NA NA 0.0999254 0.06355991 0.9262335 0.913329 NA 0.08174265 NA FALSE NA 0 -1.646 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA TAC A,G 8.237e-06 15:41479210 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003661749 intron_variant 0.29804 0.15861 0.06428 0.099367 0.4027897 0.168078 0.9936378 TRUE 4.07398e-06 ENSE00001506418_014 ENSE00001506418 014 15 41771259 41771428 + 42 96 32 T C 41771417 628 159 CTCAGCAGGCAGCAGGGTGGTACCACACTTGCCTTGCTCATTTCCTTTGGAGCATCTGGTAACACTCCAGAACCGTATTTTGCATTCAGCTGGGCCAAGATGGCAGCTTGAACAGCTGGGTCTCTGGACTGAGAGAGAAAATAAGTTGTTTTAGAGATTGCTTGACACTC 41479060 41479230 41479218 41479219 41479219 downstr_intron 21 1.677419 GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGCTGCCTGCTGAG GAGTGTCAAGCAATCTCTAAAACAACTTATTTTCTCTCTCAGTCCAGAGACCCAGCTGTTCAAGCTGCCATCTTGGCCCAGCTGAATGCAAAATACGGTTCTGGAGTGTTACCAGATGCTCCAAAGGAAATGAGCAAGGCAAGTGTGGTACCACCCTGTTGCCTGCTGAG mutant NA NA NA NA NA 164 48 0.9930215 0.95 0.9715107 0.9498313 0.9026357 0.8931289 0.9335291 NA NA 0.09989257 0.01647085 0.9262335 0.913329 NA 0.05818171 NA FALSE NA 0 -0.261 . downstream_gene_variant MODIFIER RTF1 HGNC 28996 ENST00000560447 1 NA GTT T,C 8.237e-06 15:41479219 RTF1 HGNC Symbol protein_coding 75155 ENSG00000137815 ENSE00003661749 intron_variant 0.272859 0.21509 0.01079 0.099367 0.5741792 0.168078 0.9936378 TRUE 1.2381e-05 ENSE00001506571_000 ENSE00001506571 000 18 7046242 7046411 - 35 90 45 NA NA NA NA NA GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC 7046242 7046412 NA NA NA NA NA NA GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC natural NA NA NA NA NA 5003 5608 0.9080377 0.973074 0.9405558 NA NA 0.9080377 0.973074 NA NA 0 0 NA 0.9405558 NA 0 NA FALSE NA NA NA NA NA NA LAMA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LAMA1 NA NA NA ENSG00000101680 ENSE00003539306 NA NA NA NA NA NA NA 1.391761e-24 FALSE NA ENSE00001506571_001 ENSE00001506571 001 18 7046242 7046411 - 35 90 45 T A 7046264 121 148 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTTTTTCACATTTTACTAAAACTTC 7046242 7046412 7046264 7046265 7046265 downstr_intron 13 1.382353 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTTTTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC mutant NA NA NA NA NA 43 226 1 1 1 NA NA 0.9080377 0.973074 NA NA 0.09196231 0.026926 NA 0.9405558 NA 0.05944416 NA FALSE NA 0 0.12 . intron_variant&non_coding_transcript_variant MODIFIER LAMA1 HGNC 6481 ENST00000579014 6/61 1 NA ATA T,A 2.471e-05 18:7046265 LAMA1 HGNC Symbol protein_coding 176070 ENSG00000101680 ENSE00003539306 intron_variant 1.369713 0.27066 0.02572 0.053691 0.7762459 0.240765 1.391761e-24 FALSE 2.44268e-05 ENSE00001506571_004 ENSE00001506571 004 18 7046242 7046411 - 35 90 45 A C 7046289 124 123 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGAGGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC 7046242 7046412 7046289 7046290 7046290 exon -13 0.8666667 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGAGGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC mutant NA NA NA NA NA 1670 546 0.9993327 0.9972993 0.998316 NA NA 0.9080377 0.973074 NA NA 0.09129505 0.02422531 NA 0.9405558 NA 0.05776018 NA FALSE NA 1 3.911 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAMA1 HGNC 6481 ENST00000579014 6/62 1 NA CAT A,C 8.236e-06 18:7046290 LAMA1 HGNC Symbol protein_coding 176070 ENSG00000101680 ENSE00003539306 missense_variant 6.358483 0.99078 0.97756 0.706298 0.9965791 0 1.391761e-24 FALSE 4.06564e-06 ENSE00001506571_005 ENSE00001506571 005 18 7046242 7046411 - 35 90 45 T C 7046295 125 117 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCGTGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC 7046242 7046412 7046295 7046296 7046296 exon -19 0.8 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCGTGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC mutant NA NA NA NA NA 1417 2162 0.9988911 0.9974867 0.9981889 NA NA 0.9080377 0.973074 NA NA 0.09085344 0.02441273 NA 0.9405558 NA 0.05763308 NA FALSE NA 0 -2.932 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAMA1 HGNC 6481 ENST00000579014 6/62 1 NA ATG T,C 8.236e-06 18:7046296 LAMA1 HGNC Symbol protein_coding 176070 ENSG00000101680 ENSE00003539306 synonymous_variant 0.42973 0.18413 0.04336 0.706298 0.5269379 0 1.391761e-24 FALSE 3.65866e-05 ENSE00001506571_007 ENSE00001506571 007 18 7046242 7046411 - 35 90 45 G C 7046301 127 111 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGGTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC 7046242 7046412 7046301 7046302 7046302 exon -25 0.7333333 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGGTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC mutant NA NA NA NA NA 257 160 0.972215 0.95 0.9611075 NA NA 0.9080377 0.973074 NA NA 0.06417727 -0.023074 NA 0.9405558 NA 0.02055164 NA FALSE NA 1 3.956 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAMA1 HGNC 6481 ENST00000579014 6/62 1 NA AGC G,C 1.647e-05 18:7046302 LAMA1 HGNC Symbol protein_coding 176070 ENSG00000101680 ENSE00003539306 missense_variant 6.053781 0.98705 0.96872 0.706298 0.9979082 0 1.391761e-24 FALSE 1.21975e-05 ENSE00001506571_009 ENSE00001506571 009 18 7046242 7046411 - 35 90 45 T C 7046324 129 88 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTGTCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC 7046242 7046412 7046324 7046325 7046325 exon 43 0.4777778 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTGTCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC mutant NA NA NA NA NA 1382 31 0.998489 0.9935779 0.9960334 NA NA 0.9080377 0.973074 NA NA 0.09045127 0.02050387 NA 0.9405558 NA 0.05547757 NA FALSE NA 1 7.849 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAMA1 HGNC 6481 ENST00000579014 6/62 1 NA ATA T,C 1.647e-05 18:7046325 LAMA1 HGNC Symbol protein_coding 176070 ENSG00000101680 ENSE00003539306 missense_variant 4.617506 0.99386 0.98859 0.706298 0.9992357 0 1.391761e-24 FALSE 1.22146e-05 ENSE00001506571_013 ENSE00001506571 013 18 7046242 7046411 - 35 90 45 T C 7046354 133 58 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAGTAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC 7046242 7046412 7046354 7046355 7046355 exon 13 0.1444444 GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAGTAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC mutant NA NA NA NA NA 3119 638 0.9839701 0.9929361 0.9884531 NA NA 0.9080377 0.973074 NA NA 0.07593237 0.01986212 NA 0.9405558 NA 0.04789724 NA FALSE NA 1 4.023 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LAMA1 HGNC 6481 ENST00000579014 6/62 rs370249044 1 NA C:0.0002 C:0 ATT T,C 5.766e-05 18:7046355 LAMA1 HGNC Symbol protein_coding 176070 ENSG00000101680 ENSE00003539306 missense_variant 2.063296 0.98637 0.97567 0.706298 0.98813 0 1.391761e-24 FALSE 5.7673e-05 ENSE00001506571_016 ENSE00001506571 016 18 7046242 7046411 - 35 90 45 A G 7046394 136 18 GAAATCTAGGTTTTAATCTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC 7046242 7046412 7046394 7046395 7046395 upstr_intron -28 -0.6 GAAATCTAGGTTTTAATCTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC mutant NA NA NA NA NA 32 18 1 1 1 NA NA 0.9080377 0.973074 NA NA 0.09196231 0.026926 NA 0.9405558 NA 0.05944416 NA FALSE NA 0 -0.35 . intron_variant&non_coding_transcript_variant MODIFIER LAMA1 HGNC 6481 ENST00000579014 5/61 1 NA AAA A,G 2.472e-05 18:7046395 LAMA1 HGNC Symbol protein_coding 176070 ENSG00000101680 ENSE00003539306 intron_variant 1.63482 0.21714 0.01961 0.078448 0.831426 0.0832456 1.391761e-24 FALSE 2.94026e-05 ENSE00001506571_017 ENSE00001506571 017 18 7046242 7046411 - 35 90 45 A G 7046395 137 17 GAAATCTAGGTTTTAACTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC 7046242 7046412 7046395 7046396 7046396 upstr_intron -29 -0.6222222 GAAATCTAGGTTTTAACTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC GAAATCTAGGTTTTAATTTTTGTTCATAACTTTCTTTTTCCTTAGTATTATTATTCAATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCATGGGATGAAACTACAAAGGTGAGTTCTAGTATTTCACATTTTACTAAAACTTC mutant NA NA NA NA NA 13 1770 1 0.9988522 0.9994261 NA NA 0.9080377 0.973074 NA NA 0.09196231 0.02577824 NA 0.9405558 NA 0.05887028 NA FALSE NA 0 0.308 . intron_variant&non_coding_transcript_variant MODIFIER LAMA1 HGNC 6481 ENST00000579014 5/61 rs368648242 1 NA G:0 G:0.0006 AAT A,G 0.0001648 18:7046396 LAMA1 HGNC Symbol protein_coding 176070 ENSG00000101680 ENSE00003539306 intron_variant 1.664731 0.26393 0.0236 0.078448 0.8648127 0.0832456 1.391761e-24 FALSE 0.000218447 ENSE00001507234_000 ENSE00001507234 000 12 124414169 124414338 + 42 96 32 NA NA NA NA NA TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 NA NA NA NA NA NA TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC natural 36 36 0.9965164 0.983704 0.9901102 567 1606 0.9741485 0.9142474 0.9441979 0.9965164 0.983704 0.9741485 0.9142474 0 0 0 0 0.9901102 0.9441979 0 0 0 FALSE FALSE NA NA NA NA NA CCDC92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC92 NA NA NA ENSG00000119242 ENSE00001507234 NA NA NA NA NA NA NA 0.3688496 FALSE NA ENSE00001507234_BRK ENSE00001507234 BRK 12 124414169 124414338 + 42 96 32 A,G; T,T NA NA NA TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCATTGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGCCAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 NA NA NA NA NA NA TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCATTGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGCCAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC control 75 30 0 0 0 503 501 0 0.0282215 0.01411075 0.9965164 0.983704 0.9741485 0.9142474 -0.9965164 -0.983704 -0.9741485 -0.8860259 0.9901102 0.9441979 -0.9901102 -0.9300872 0.06002304 TRUE TRUE NA NA NA NA NA CCDC92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC92 NA NA NA ENSG00000119242 ENSE00001507234 NA NA NA NA NA NA NA 0.3688496 FALSE NA ENSE00001534938_000 ENSE00001534938 000 2 39181466 39181635 + 48 84 38 NA NA NA NA NA ATGCAAATCAGTTTGGTGGCTTTCCCACCCATGCCTACCTGCAGATGTATCAGATATTCAGGGATGCGCTGGACTATGTGAAAAAACAACGTGTAGATGTCAGATTTAATCTCTTCATCACCCTGAATGAAAGAAAGGTCAAGTTACTCTTCAGTGTTCCTCCAGCTGTG 38954324 38954494 NA NA NA NA NA NA CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT natural 113 59 0.9698784 0.9830302 0.9764543 2421 1069 0.9361035 0.9853578 0.9607307 0.9698784 0.9830302 0.9361035 0.9853578 0 0 0 0 0.9764543 0.9607307 0 0 0 FALSE FALSE NA NA NA NA NA ARHGEF33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF33 NA NA NA ENSG00000214694 ENSE00001534938 NA NA NA NA NA NA NA NA NA NA ENSE00001534938_001 ENSE00001534938 001 2 39181466 39181635 + 48 84 38 T C 39181490 1191 25 ATGCAAATCAGTTTGGTGGCTTTCCCACCCATGCCTACCTGCAGATGTATCAGATATTCAGGGATGCGCTGGACTATGTGAAAAAACAACGTGTAGATGTCAGATTTAATCTCTTCATCACCCTGAATGAAAGAAAGGTCAAGTTGCTCTTCAGTGTTCCTCCAGCTGTG 38954324 38954494 38954348 38954349 38954349 upstr_intron -24 -0.4791667 CACAGCTGGAGGAACACTGAAGAGCAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT mutant NA NA NA NA NA 99 73 0.1963388 0 0.09816938 0.9698784 0.9830302 0.9361035 0.9853578 NA NA -0.7397647 -0.9853578 0.9764543 0.9607307 NA -0.8625613 NA TRUE NA 0.047 1.34 . intron_variant MODIFIER ARHGEF33 HGNC 37252 ENST00000536934 10/15 1 NA GTA T,C 4.067e-05 2:38954349 ARHGEF33 HGNC Symbol protein_coding 85608 ENSG00000214694 ENSE00001534938 intron_variant 0.294135 0.22049 0.17341 0.06567 0.5710962 0.266171 NA NA 6.632e-06 ENSE00001534938_002 ENSE00001534938 002 2 39181466 39181635 + 48 84 38 T C 39181494 1192 29 ATGCAAATCAGTTTGGTGGCTTTCCCACCCATGCCTACCTGCAGATGTATCAGATATTCAGGGATGCGCTGGACTATGTGAAAAAACAACGTGTAGATGTCAGATTTAATCTCTTCATCACCCTGAATGAAAGAAAGGTCAGGTTACTCTTCAGTGTTCCTCCAGCTGTG 38954324 38954494 38954352 38954353 38954353 upstr_intron -20 -0.3958333 CACAGCTGGAGGAACACTGAAGAGTAACCTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT mutant NA NA NA NA NA 753 84 0.9887109 1 0.9943555 0.9698784 0.9830302 0.9361035 0.9853578 NA NA 0.05260741 0.01464216 0.9764543 0.9607307 NA 0.03362478 NA FALSE NA 0 -0.294 . intron_variant MODIFIER ARHGEF33 HGNC 37252 ENST00000536934 10/15 1 NA CTT T,C 4.078e-05 2:38954353 ARHGEF33 HGNC Symbol protein_coding 85608 ENSG00000214694 ENSE00001534938 intron_variant -0.518302 0.16773 0.04025 0.06567 0.3534568 0.1853 NA NA 6.62489e-06 ENSE00001534938_003 ENSE00001534938 003 2 39181466 39181635 + 48 84 38 T C 39181500 1193 35 ATGCAAATCAGTTTGGTGGCTTTCCCACCCATGCCTACCTGCAGATGTATCAGATATTCAGGGATGCGCTGGACTATGTGAAAAAACAACGTGTAGATGTCAGATTTAATCTCTTCATCACCCTGAATGAAAGAAGGGTCAAGTTACTCTTCAGTGTTCCTCCAGCTGTG 38954324 38954494 38954358 38954359 38954359 upstr_intron -14 -0.2708333 CACAGCTGGAGGAACACTGAAGAGTAACTTGACCCTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT mutant NA NA NA NA NA 18 277 0.8177574 0.9402396 0.8789985 0.9698784 0.9830302 0.9361035 0.9853578 NA NA -0.1183461 -0.04511824 0.9764543 0.9607307 NA -0.08173215 NA FALSE NA 0.999 2.776 . intron_variant MODIFIER ARHGEF33 HGNC 37252 ENST00000536934 10/15 rs544861194 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTT T,C 0.0006542 2:38954359 ARHGEF33 HGNC Symbol protein_coding 85608 ENSG00000214694 ENSE00001534938 intron_variant 0.796909 0.72264 0.86824 0.06567 0.7699268 0.952199 NA NA 0.000251656 ENSE00001534938_004 ENSE00001534938 004 2 39181466 39181635 + 48 84 38 G T 39181514 1194 49 ATGCAAATCAGTTTGGTGGCTTTCCCACCCATGCCTACCTGCAGATGTATCAGATATTCAGGGATGCGCTGGACTATGTGAAAAAACAACGTGTAGATGTCAGATTTAATCTCTTCATCACACTGAATGAAAGAAAGGTCAAGTTACTCTTCAGTGTTCCTCCAGCTGTG 38954324 38954494 38954372 38954373 38954373 exon 1 0.01190476 CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGTGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT mutant NA NA NA NA NA 95 81 0.005176235 0.01263249 0.008904363 0.9698784 0.9830302 0.9361035 0.9853578 NA NA -0.9309273 -0.9727254 0.9764543 0.9607307 NA -0.9518263 NA TRUE NA 1 5.33 . missense_variant&splice_region_variant MODERATE ARHGEF33 HGNC 37252 ENST00000536934 11/16 1 possibly_damaging(0.754) NA GGG G,T 4.11e-05 2:38954373 ARHGEF33 HGNC Symbol protein_coding 85608 ENSG00000214694 ENSE00001534938 missense_variant 4.586419 0.98335 0.97458 0.549168 0.9948159 0 NA NA 4.65419e-05 ENSE00001534938_005 ENSE00001534938 005 2 39181466 39181635 + 48 84 38 T C 39181519 1195 54 ATGCAAATCAGTTTGGTGGCTTTCCCACCCATGCCTACCTGCAGATGTATCAGATATTCAGGGATGCGCTGGACTATGTGAAAAAACAACGTGTAGATGTCAGATTTAATCTCTTCGTCACCCTGAATGAAAGAAAGGTCAAGTTACTCTTCAGTGTTCCTCCAGCTGTG 38954324 38954494 38954377 38954378 38954378 exon 6 0.07142857 CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGACGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT mutant NA NA NA NA NA 435 499 0.9999054 0.9992337 0.9995695 0.9698784 0.9830302 0.9361035 0.9853578 NA NA 0.06380186 0.01387583 0.9764543 0.9607307 NA 0.03883884 NA FALSE NA 1 1.011 . synonymous_variant LOW ARHGEF33 HGNC 37252 ENST00000536934 11/16 1 NA ATG T,C 4.118e-05 2:38954378 ARHGEF33 HGNC Symbol protein_coding 85608 ENSG00000214694 ENSE00001534938 synonymous_variant -0.132643 0.97086 0.82988 0.549168 0.5369573 0 NA NA 6.61376e-06 ENSE00001534938_006 ENSE00001534938 006 2 39181466 39181635 + 48 84 38 T A 39181563 1196 98 ATGCAAATCAGTTTGGTGGCTTTCCCACCCATGCCTACCTGCAGATGTATCAGATATTCAGGGATGCGCTGGTCTATGTGAAAAAACAACGTGTAGATGTCAGATTTAATCTCTTCATCACCCTGAATGAAAGAAAGGTCAAGTTACTCTTCAGTGTTCCTCCAGCTGTG 38954324 38954494 38954421 38954422 38954422 exon -35 0.5952381 CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGACCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT mutant NA NA NA NA NA 47 143 1 1 1 0.9698784 0.9830302 0.9361035 0.9853578 NA NA 0.0638965 0.01464216 0.9764543 0.9607307 NA 0.03926933 NA FALSE NA 1 6.338 . missense_variant MODERATE ARHGEF33 HGNC 37252 ENST00000536934 11/16 1 probably_damaging(0.985) NA GTC T,A 4.127e-05 2:38954422 ARHGEF33 HGNC Symbol protein_coding 85608 ENSG00000214694 ENSE00001534938 missense_variant 6.76348 0.98878 0.97334 0.553676 0.9869456 0 NA NA 6.60991e-06 ENSE00001534938_BRK ENSE00001534938 BRK 2 39181466 39181635 + 48 84 38 A,G; T,T NA NA NA CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCTTGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGCCAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT 38954324 38954494 NA NA NA NA NA NA CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCTTGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGCCAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT CACAGCTGGAGGAACACTGAAGAGTAACTTGACCTTTCTTTCATTCAGGGTGATGAAGAGATTAAATCTGACATCTACACGTTGTTTTTTCACATAGTCCAGCGCATCCCTGAATATCTGATACATCTGCAGGTAGGCATGGGTGGGAAAGCCACCAAACTGATTTGCAT control 62 58 0 0 0 NA NA NA NA NA 0.9698784 0.9830302 0.9361035 0.9853578 -0.9698784 -0.9830302 NA NA 0.9764543 0.9607307 -0.9764543 NA NA NA TRUE NA NA NA NA NA ARHGEF33 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF33 NA NA NA ENSG00000214694 ENSE00001534938 NA NA NA NA NA NA NA NA NA NA ENSE00001538243_000 ENSE00001538243 000 7 7421130 7421299 - 45 69 56 NA NA NA NA NA GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 NA NA NA NA NA NA ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC natural NA NA NA NA NA 5311 4351 0.9109905 0.995252 0.9531212 NA NA 0.9109905 0.995252 NA NA 0 0 NA 0.9531212 NA 0 NA FALSE NA NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00001538243 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001538243_002 ENSE00001538243 002 7 7421130 7421299 - 45 69 56 C G 7421142 362 158 GCGATCCTAAGCGTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381510 7381511 7381511 downstr_intron 33 1.75 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTACGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 321 71 0.9993572 1 0.9996786 NA NA 0.9109905 0.995252 NA NA 0.08836669 0.004748048 NA 0.9531212 NA 0.04655737 NA FALSE NA 0.002 0.879 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 28/34 1 NA CCT C 8.276e-06 7:7381511 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 intron_variant 0.41564 0.41089 0.1467 0.061011 0.6001029 0.932611 1.893035e-20 FALSE 4.10071e-06 ENSE00001538243_004 ENSE00001538243 004 7 7421130 7421299 - 45 69 56 A G 7421159 364 141 GCGATCCTAAGCCTAAGCATTTCTCTAAGGTCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381527 7381528 7381528 downstr_intron 16 1.363636 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGACCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 969 177 0.995184 0.990427 0.9928055 NA NA 0.9109905 0.995252 NA NA 0.08419346 -0.004824944 NA 0.9531212 NA 0.03968426 NA FALSE NA 0 -0.598 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 28/34 1 NA GAT A 8.276e-06 7:7381528 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 intron_variant -0.039217 0.15748 0.00152 0.061011 0.440836 0.117417 1.893035e-20 FALSE 4.08363e-06 ENSE00001538243_005 ENSE00001538243 005 7 7421130 7421299 - 45 69 56 T C 7421163 365 137 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCCGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381531 7381532 7381532 downstr_intron 12 1.272727 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCGGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 35 71 0.9726338 1 0.9863169 NA NA 0.9109905 0.995252 NA NA 0.06164329 0.004748048 NA 0.9531212 NA 0.03319567 NA FALSE NA 0 -0.019 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 28/34 rs377230561 1 NA C:0 C:0.0001 CTG T 2.483e-05 7:7381532 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 intron_variant 0.528034 0.24357 0.0699 0.061011 0.683676 0.24245 1.893035e-20 FALSE 2.85498e-05 ENSE00001538243_006 ENSE00001538243 006 7 7421130 7421299 - 45 69 56 G C 7421164 366 136 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTCAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381532 7381533 7381533 downstr_intron 11 1.25 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTGAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 46 34 0.9685117 1 0.9842558 NA NA 0.9109905 0.995252 NA NA 0.05752113 0.004748048 NA 0.9531212 NA 0.03113459 NA FALSE NA 0 -0.085 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 28/34 rs375609798 1 NA TGA G 4.138e-05 7:7381533 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 intron_variant 0.309227 0.17998 0.01089 0.061011 0.5965733 0.259505 1.893035e-20 FALSE 4.89353e-05 ENSE00001538243_007 ENSE00001538243 007 7 7421130 7421299 - 45 69 56 G A 7421166 367 134 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAAACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381534 7381535 7381535 downstr_intron 9 1.204545 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTTTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 142 735 0.9788342 0.9960197 0.9874269 NA NA 0.9109905 0.995252 NA NA 0.0678437 0.0007676985 NA 0.9531212 NA 0.0343057 NA FALSE NA 0 -0.387 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 28/34 1 NA AGA G 8.277e-06 7:7381535 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 intron_variant 1.203619 0.20037 0.00635 0.061011 0.722933 0.343607 1.893035e-20 FALSE 4.07687e-06 ENSE00001538243_008 ENSE00001538243 008 7 7421130 7421299 - 45 69 56 C G 7421174 368 126 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTAGCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381542 7381543 7381543 downstr_intron 1 1.022727 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGCTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 594 1485 0 0.01156211 0.005781057 NA NA 0.9109905 0.995252 NA NA -0.9109905 -0.9836898 NA 0.9531212 NA -0.9473402 NA TRUE NA 1 7.048 . splice_donor_variant HIGH COL28A1 HGNC 22442 ENST00000399429 28/34 1 NA HC ACC C 8.277e-06 7:7381543 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 splice_donor_variant 5.073017 0.99003 0.98916 0.061011 0.9921977 0.895389 1.893035e-20 FALSE 4.06841e-06 ENSE00001538243_009 ENSE00001538243 009 7 7421130 7421299 - 45 69 56 T C 7421177 369 123 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTCCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381545 7381546 7381546 exon -3 0.9710145 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGGAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 1699 879 0.9846616 0.9993915 0.9920266 NA NA 0.9109905 0.995252 NA NA 0.07367105 0.004139597 NA 0.9531212 NA 0.03890532 NA FALSE NA 1 5.552 . missense_variant&splice_region_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 1 deleterious(0) probably_damaging(1) NA TTC T 8.277e-06 7:7381546 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 6.423928 0.99177 0.9839 0.553676 0.9988015 0 1.893035e-20 FALSE 4.06653e-06 ENSE00001538243_010 ENSE00001538243 010 7 7421130 7421299 - 45 69 56 C A 7421178 370 122 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTATGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381546 7381547 7381547 exon -4 0.9565217 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCATAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 1430 1366 0.9941704 0.998906 0.9965382 NA NA 0.9109905 0.995252 NA NA 0.08317989 0.00365405 NA 0.9531212 NA 0.04341697 NA FALSE NA 0.856 -0.396 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 COSM1313281 1 tolerated(0.08) possibly_damaging(0.617) NA TCT C 2.483e-05 7:7381547 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 4.61945 0.95194 0.31438 0.553676 0.9966413 0 1.893035e-20 FALSE 2.03312e-05 ENSE00001538243_012 ENSE00001538243 012 7 7421130 7421299 - 45 69 56 T C 7421194 372 106 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCACGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381562 7381563 7381563 exon -20 0.7246377 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCGTGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 1011 566 0.9987312 0.9921696 0.9954504 NA NA 0.9109905 0.995252 NA NA 0.08774072 -0.003082316 NA 0.9531212 NA 0.0423292 NA FALSE NA 0 -1.716 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 rs376179370 1 tolerated(0.66) benign(0.002) NA C:0.0003 C:0 ATG T 8.276e-06 7:7381563 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant -1.771417 0.27127 0.05129 0.553676 0.2029725 0 1.893035e-20 FALSE 8.12546e-06 ENSE00001538243_013 ENSE00001538243 013 7 7421130 7421299 - 45 69 56 C T 7421199 373 101 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCTATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381567 7381568 7381568 exon -25 0.6521739 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATAGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 1423 587 0.9899536 0.9835297 0.9867417 NA NA 0.9109905 0.995252 NA NA 0.07896312 -0.01172224 NA 0.9531212 NA 0.03362044 NA FALSE NA 0.002 -0.564 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 1 tolerated(0.51) benign(0) NA CCA C 8.277e-06 7:7381568 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 1.107256 0.40836 0.0235 0.553676 0.8903535 0 1.893035e-20 FALSE 8.12506e-06 ENSE00001538243_014 ENSE00001538243 014 7 7421130 7421299 - 45 69 56 C T 7421206 374 94 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGTCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381574 7381575 7381575 exon -32 0.5507246 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGACACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 88 1181 1 0.9985283 0.9992642 NA NA 0.9109905 0.995252 NA NA 0.08900948 0.003276395 NA 0.9531212 NA 0.04614294 NA FALSE NA 1 7.075 rs75350369 missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 rs75350369 1 deleterious(0) probably_damaging(1) T:0.0008 T:0 T:0 NA T:0 T:0.004 T:0 T:0.0003 T:0.0018 GCC C 0.001051 7:7381575 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 6.992559 0.99362 0.98966 0.553676 0.9984683 0 1.893035e-20 FALSE 0.0010522 ENSE00001538243_015 ENSE00001538243 015 7 7421130 7421299 - 45 69 56 T C 7421211 375 89 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTCGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381579 7381580 7381580 exon 33 0.4782609 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCGAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 767 555 0.9950857 0.997351 0.9962184 NA NA 0.9109905 0.995252 NA NA 0.0840952 0.002099043 NA 0.9531212 NA 0.04309712 NA FALSE NA 0 -0.305 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 28/35 1 NA TTG T 1.655e-05 7:7381580 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 synonymous_variant 0.430993 0.53845 0.14142 0.553676 0.7042001 0 1.893035e-20 FALSE 1.62487e-05 ENSE00001538243_016 ENSE00001538243 016 7 7421130 7421299 - 45 69 56 G A 7421212 376 88 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTAGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381580 7381581 7381581 exon 32 0.4637681 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCTAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 554 879 1 0.9968607 0.9984303 NA NA 0.9109905 0.995252 NA NA 0.08900948 0.001608747 NA 0.9531212 NA 0.04530911 NA FALSE NA 0.002 1.647 rs184719460 missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 rs184719460 1 tolerated(0.14) benign(0.025) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGG G 0.0001076 7:7381581 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 3.80538 0.55061 0.18532 0.553676 0.9970929 0 1.893035e-20 FALSE 0.000109683 ENSE00001538243_017 ENSE00001538243 017 7 7421130 7421299 - 45 69 56 C T 7421215 377 85 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGTCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381583 7381584 7381584 exon 29 0.4202899 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGACCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 150 27 0.9920557 1 0.9960278 NA NA 0.9109905 0.995252 NA NA 0.08106515 0.004748048 NA 0.9531212 NA 0.0429066 NA FALSE NA 1 5.385 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 1 deleterious(0) probably_damaging(1) NA GCC C 3.311e-05 7:7381584 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 6.298808 0.98312 0.97653 0.553676 0.9980025 0 1.893035e-20 FALSE 4.06266e-05 ENSE00001538243_018 ENSE00001538243 018 7 7421130 7421299 - 45 69 56 C T 7421216 378 84 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCTTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381584 7381585 7381585 exon 28 0.4057971 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAAGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 388 768 0.9941279 0.9999008 0.9970144 NA NA 0.9109905 0.995252 NA NA 0.08313736 0.00464888 NA 0.9531212 NA 0.04389312 NA FALSE NA 1 5.385 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 1 deleterious(0) probably_damaging(1) NA CCT C 8.277e-06 7:7381585 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 7.413157 0.99317 0.98506 0.553676 0.9983292 0 1.893035e-20 FALSE NA ENSE00001538243_019 ENSE00001538243 019 7 7421130 7421299 - 45 69 56 G A 7421220 379 80 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGAAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381588 7381589 7381589 exon 24 0.3478261 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTTCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 583 103 1 0.9918437 0.9959218 NA NA 0.9109905 0.995252 NA NA 0.08900948 -0.003408297 NA 0.9531212 NA 0.04280059 NA FALSE NA 0 -0.627 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 28/35 1 NA GGA G 5.794e-05 7:7381589 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 synonymous_variant 1.029074 0.15984 0.00765 0.553676 0.6742334 0 1.893035e-20 FALSE 8.93728e-05 ENSE00001538243_020 ENSE00001538243 020 7 7421130 7421299 - 45 69 56 G A 7421223 380 77 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAACCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381591 7381592 7381592 exon 21 0.3043478 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGTTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 232 1464 0.9424152 0.9578138 0.9501145 NA NA 0.9109905 0.995252 NA NA 0.03142464 -0.03743811 NA 0.9531212 NA -0.003006732 NA FALSE NA 0 -0.22 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 28/35 rs202213416 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0003 A:0.0027 AGC G 0.001606 7:7381592 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 synonymous_variant 1.290807 0.19554 0.02527 0.553676 0.5931517 0 1.893035e-20 FALSE 0.00144628 ENSE00001538243_021 ENSE00001538243 021 7 7421130 7421299 - 45 69 56 C A 7421224 381 76 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGACTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381592 7381593 7381593 exon 20 0.2898551 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGTCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 234 343 1 1 1 NA NA 0.9109905 0.995252 NA NA 0.08900948 0.004748048 NA 0.9531212 NA 0.04687876 NA FALSE NA 1 7.075 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7381593 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 7.456841 0.99387 0.9911 0.553676 0.9964364 0 1.893035e-20 FALSE 4.46882e-05 ENSE00001538243_023 ENSE00001538243 023 7 7421130 7421299 - 45 69 56 T C 7421229 383 71 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGCGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381597 7381598 7381598 exon 15 0.2173913 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCGCAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 308 1476 1 0.9776876 0.9888438 NA NA 0.9109905 0.995252 NA NA 0.08900948 -0.01756434 NA 0.9531212 NA 0.03572257 NA FALSE NA 0.998 0.788 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 28/35 1 NA GTG T 8.277e-06 7:7381598 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 synonymous_variant 0.125467 0.96885 0.77209 0.553676 0.6786659 0 1.893035e-20 FALSE 1.62493e-05 ENSE00001538243_024 ENSE00001538243 024 7 7421130 7421299 - 45 69 56 C G 7421234 384 66 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCGTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381602 7381603 7381603 exon 10 0.1449275 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAACGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 1201 107 0.9968067 0.9970323 0.9969195 NA NA 0.9109905 0.995252 NA NA 0.08581619 0.001780337 NA 0.9531212 NA 0.04379827 NA FALSE NA 1 6.923 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 rs267601567 1 deleterious(0) probably_damaging(1) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CCT C 3.311e-05 7:7381603 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 7.15687 0.99398 0.99087 0.553676 0.9993106 0 1.893035e-20 FALSE 5.68787e-05 ENSE00001538243_025 ENSE00001538243 025 7 7421130 7421299 - 45 69 56 G C 7421237 385 63 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTCTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381605 7381606 7381606 exon 7 0.1014493 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAAGAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 313 2146 0.9988106 0.9996445 0.9992276 NA NA 0.9109905 0.995252 NA NA 0.0878201 0.004392581 NA 0.9531212 NA 0.04610634 NA FALSE NA 0.844 1.111 rs138688284 missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 rs138688284 1 tolerated(0.14) possibly_damaging(0.594) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TGT G 5.794e-05 7:7381606 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 3.477826 0.97923 0.4342 0.487112 0.9694761 0 1.893035e-20 FALSE 5.28168e-05 ENSE00001538243_026 ENSE00001538243 026 7 7421130 7421299 - 45 69 56 C T 7421241 386 59 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCTCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381609 7381610 7381610 exon 3 0.04347826 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGAGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 326 717 0.9719447 0.9996809 0.9858128 NA NA 0.9109905 0.995252 NA NA 0.06095422 0.004428944 NA 0.9531212 NA 0.03269158 NA FALSE NA 0.259 0.25 . splice_region_variant&synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 28/35 rs369032731 1 T:0.0014 T:0 T:0 NA T:0 T:0 T:0.0072 CCC C 0.001159 7:7381610 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 splice_region_variant 1.607741 0.9634 0.58974 0.487112 0.7076016 0 1.893035e-20 FALSE 0.00108074 ENSE00001538243_027 ENSE00001538243 027 7 7421130 7421299 - 45 69 56 C T 7421243 387 57 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCTCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381611 7381612 7381612 exon 1 0.01449275 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGAGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 2131 75 0.0004592515 0.01116387 0.005811563 NA NA 0.9109905 0.995252 NA NA -0.9105313 -0.9840881 NA 0.9531212 NA -0.9473097 NA TRUE NA 1 7.075 . missense_variant&splice_region_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 28/35 1 deleterious(0) probably_damaging(1) NA CCC C 1.656e-05 7:7381612 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 missense_variant 7.294902 0.99386 0.98989 0.487112 0.9993512 0 1.893035e-20 FALSE 8.1277e-06 ENSE00001538243_029 ENSE00001538243 029 7 7421130 7421299 - 45 69 56 T C 7421245 389 55 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCCACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 7381613 7381614 7381614 upstr_intron -2 -0.01785714 ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTGGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 373 105 0.001313053 0 0.0006565263 NA NA 0.9109905 0.995252 NA NA -0.9096775 -0.995252 NA 0.9531212 NA -0.9524647 NA TRUE NA 1 7.275 . splice_acceptor_variant HIGH COL28A1 HGNC 22442 ENST00000399429 27/34 1 NA HC CTA T 1.656e-05 7:7381614 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 splice_acceptor_variant 4.637492 0.99177 0.98933 0.061011 0.9950877 0.976164 1.893035e-20 FALSE 2.43813e-05 ENSE00001538243_031 ENSE00001538243 031 7 7421130 7421299 - 45 69 56 C T 7421282 391 18 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCTCAGGATAGCTTGGCTAT 7381498 7381668 7381650 7381651 7381651 upstr_intron -39 -0.6785714 ATAGCCAAGCTATCCTGAGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 218 2823 0.9975197 0.9701661 0.9838429 NA NA 0.9109905 0.995252 NA NA 0.08652921 -0.02508584 NA 0.9531212 NA 0.03072168 NA FALSE NA 0 -0.663 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 27/34 1 NA CCC C 8.278e-06 7:7381651 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 intron_variant 0.448925 0.18875 0.01923 0.061011 0.7345011 0.0448725 1.893035e-20 FALSE 4.09128e-06 ENSE00001538243_032 ENSE00001538243 032 7 7421130 7421299 - 45 69 56 A G 7421284 392 16 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCGGGATAGCTTGGCTAT 7381498 7381668 7381652 7381653 7381653 upstr_intron -41 -0.7142857 ATAGCCAAGCTATCCCGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 325 34 0.9797482 0.9556401 0.9676941 NA NA 0.9109905 0.995252 NA NA 0.06875764 -0.03961182 NA 0.9531212 NA 0.01457291 NA FALSE NA 0 0.356 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 27/34 1 NA CAG A 8.277e-06 7:7381653 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 intron_variant 0.260988 0.22529 0.07041 0.061011 0.6463182 0.0448725 1.893035e-20 FALSE 4.09934e-06 ENSE00001538243_033 ENSE00001538243 033 7 7421130 7421299 - 45 69 56 T C 7421288 393 12 GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTACCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCCTACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGACAGCTTGGCTAT 7381498 7381668 7381656 7381657 7381657 upstr_intron -45 -0.7857143 ATAGCCAAGCTGTCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC mutant NA NA NA NA NA 1500 528 0.939316 0.9988287 0.9690724 NA NA 0.9109905 0.995252 NA NA 0.02832552 0.003576772 NA 0.9531212 NA 0.01595115 NA FALSE NA 0 -0.241 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 27/34 1 NA ATA T 8.277e-06 7:7381657 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001538243 intron_variant 0.154614 0.22476 0.06168 0.061011 0.6074794 0.0448725 1.893035e-20 FALSE 8.21531e-06 ENSE00001538243_BRK ENSE00001538243 BRK 7 7421130 7421299 - 45 69 56 A,G; T,T NA NA NA GCGATCCTAAGCCTAAGCATTTCTCTAAGATCCTGAGACACTTGGCTTCTGGCCTGGGAGGCCATGGCCCATTGTGCCCTTTGGGCCTGGGAAGCCTTGTGGTCCTTGTTCCCCAAACATAGGATATGAGAAAGAGATGTTCTATTAATTTCCCAGGATAGCTTGGCTAT 7381498 7381668 NA NA NA NA NA NA ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTTTGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGCCAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC ATAGCCAAGCTATCCTGGGAAATTAATAGAACATCTCTTTCTCATATCCTATGTAGGGGGAACAAGGACCACAAGGCTTCCCAGGCCCAAAGGGCACAATGGGCCATGGCCTCCCAGGCCAGAAGGTAAGTGTCTCAGGATCTTAGAGAAATGCTTAGGCTTAGGATCGC control NA NA NA NA NA 512 3087 0.001544228 0.03515123 0.01834773 NA NA 0.9109905 0.995252 NA NA -0.9094463 -0.9601007 NA 0.9531212 NA -0.9347735 NA TRUE NA NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00001538243 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001543521_000 ENSE00001543521 000 18 8635486 8635655 + 45 90 35 NA NA NA NA NA AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 NA NA NA NA NA NA GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT natural 654 1274 0.8441108 0.8271402 0.8356255 327 327 0.8617585 0.8641905 0.8629745 0.8441108 0.8271402 0.8617585 0.8641905 0 0 0 0 0.8356255 0.8629745 0 0 0 FALSE FALSE NA NA NA NA NA RP11-661O13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP001793.1 NA NA NA ENSG00000266708 ENSE00001543521 NA NA NA NA NA NA NA NA NA NA ENSE00001543521_BRK ENSE00001543521 BRK 18 8635486 8635655 + 45 90 35 A,G; T,T NA NA NA AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCGGCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATAAAGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 NA NA NA NA NA NA GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACTTTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGCCGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT control 51 61 0 0 0 158 1909 0 0.0001675218 8.376092e-05 0.8441108 0.8271402 0.8617585 0.8641905 -0.8441108 -0.8271402 -0.8617585 -0.864023 0.8356255 0.8629745 -0.8356255 -0.8628907 0.02726523 TRUE TRUE NA NA NA NA NA RP11-661O13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP001793.1 NA NA NA ENSG00000266708 ENSE00001543521 NA NA NA NA NA NA NA NA NA NA ENSE00001577294_000 ENSE00001577294 000 4 6043841 6044010 - 45 69 56 NA NA NA NA NA CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG 6042113 6042283 NA NA NA NA NA NA CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG natural 112 65 0.9624491 0.9642438 0.9633464 151 301 0.9979641 0.9893434 0.9936537 0.9624491 0.9642438 0.9979641 0.9893434 0 0 0 0 0.9633464 0.9936537 0 0 0 FALSE FALSE NA NA NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP1 NA NA NA ENSG00000152969 ENSE00001577294 NA NA NA NA NA NA NA 0.9931668 TRUE NA ENSE00001577294_001 ENSE00001577294 001 4 6043841 6044010 - 45 69 56 C T 6043851 326 160 CTCTTTGAACTCTCTCCCCCACCCCCAGGCAGTCAAATCTTTTACCTTCTCCTTCTCCAGGTCCAGCATCTTCTGGGTCAGGGCGGCCTCGGTCCCCTCTATTTGCTTCAGCCACTAGAAAACAGCAGGGACAGGACGGGTGCAGCAAAGTGAGAGTCAGAACCCAAGGG 6042113 6042283 6042123 6042124 6042124 downstr_intron 35 1.795455 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGAGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 68 173 1 0.9952425 0.9976212 0.9624491 0.9642438 0.9979641 0.9893434 NA NA 0.002035941 0.00589903 0.9633464 0.9936537 NA 0.003967485 NA FALSE NA 0 -0.1 . intron_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000409021 17/20 rs371865443 1 NA T:0.0003 T:0 CCC C,T 1.654e-05 4:6042124 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 intron_variant 0.019149 0.15285 0.01142 0.077194 0.5570731 0.062521 0.9931668 TRUE 8.14306e-06 ENSE00001577294_003 ENSE00001577294 003 4 6043841 6044010 - 45 69 56 C T 6043860 328 151 CTCTTTGAACCCTCTCCCCTACCCCCAGGCAGTCAAATCTTTTACCTTCTCCTTCTCCAGGTCCAGCATCTTCTGGGTCAGGGCGGCCTCGGTCCCCTCTATTTGCTTCAGCCACTAGAAAACAGCAGGGACAGGACGGGTGCAGCAAAGTGAGAGTCAGAACCCAAGGG 6042113 6042283 6042132 6042133 6042133 downstr_intron 26 1.590909 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTAGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 46 12 1 1 1 0.9624491 0.9642438 0.9979641 0.9893434 NA NA 0.002035941 0.01065657 0.9633464 0.9936537 NA 0.006346255 NA FALSE NA 0 -0.694 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:6042133 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 intron_variant -0.175214 0.13549 0.02875 0.116174 0.6201711 0.062521 0.9931668 TRUE 8.13253e-06 ENSE00001577294_008 ENSE00001577294 008 4 6043841 6044010 - 45 69 56 T A 6043873 333 138 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGTCTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG 6042113 6042283 6042145 6042146 6042146 downstr_intron 13 1.295455 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGTCTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 29 61 1 1 1 0.9624491 0.9642438 0.9979641 0.9893434 NA NA 0.002035941 0.01065657 0.9633464 0.9936537 NA 0.006346255 NA FALSE NA 0 -0.351 NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:6042146 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 intron_variant 0.416506 0.18421 0.05251 0.116174 0.6478232 0.0476458 0.9931668 TRUE NA ENSE00001577294_009 ENSE00001577294 009 4 6043841 6044010 - 45 69 56 C A 6043879 334 132 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAATATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG 6042113 6042283 6042151 6042152 6042152 downstr_intron 7 1.159091 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAATATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 73 40 0.9760662 1 0.9880331 0.9624491 0.9642438 0.9979641 0.9893434 NA NA -0.02189788 0.01065657 0.9633464 0.9936537 NA -0.005620654 NA FALSE NA 0 -0.139 . splice_region_variant&intron_variant LOW JAKMIP1 HGNC 26460 ENST00000409021 17/20 1 NA TCT C,A 1.654e-05 4:6042152 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 splice_region_variant 0.783095 0.24584 0.15723 0.116174 0.6147166 0.250518 0.9931668 TRUE 4.06303e-06 ENSE00001577294_010 ENSE00001577294 010 4 6043841 6044010 - 45 69 56 G A 6043901 335 110 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGATCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG 6042113 6042283 6042173 6042174 6042174 exon -16 0.7826087 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGATCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 56 72 1 0.9939656 0.9969828 0.9624491 0.9642438 0.9979641 0.9893434 NA NA 0.002035941 0.004622142 0.9633464 0.9936537 NA 0.003329041 NA FALSE NA 1 1.907 . synonymous_variant LOW JAKMIP1 HGNC 26460 ENST00000409021 17/21 1 NA GGT G,A 8.273e-06 4:6042174 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 synonymous_variant 0.83457 0.98027 0.8988 0.615755 0.5752261 0 0.9931668 TRUE 4.06283e-06 ENSE00001577294_012 ENSE00001577294 012 4 6043841 6044010 - 45 69 56 G A 6043931 337 80 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACTGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG 6042113 6042283 6042203 6042204 6042204 exon 24 0.3478261 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACTGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 381 38 0.9975779 0.9958151 0.9966965 0.9624491 0.9642438 0.9979641 0.9893434 NA NA -0.0003861666 0.006471643 0.9633464 0.9936537 NA 0.003042738 NA FALSE NA 0.002 -1.327 . synonymous_variant LOW JAKMIP1 HGNC 26460 ENST00000409021 17/21 rs201118091 1 NA A:0.0003 A:0.0001 CGG G,A 0.0002068 4:6042204 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 synonymous_variant 1.037178 0.08444 0.01699 0.608966 0.5979611 0 0.9931668 TRUE 0.000154418 ENSE00001577294_014 ENSE00001577294 014 4 6043841 6044010 - 45 69 56 A G 6043957 339 54 CTCTTTGAACCCTCTCCCCCACCCCCAGGCAGTCAAATCTTTTACCTTCTCCTTCTCCAGGTCCAGCATCTTCTGGGTCAGGGCGGCCTCGGTCCCCTCTATTTGCTTCAGCCACTGGAAAACAGCAGGGACAGGACGGGTGCAGCAAAGTGAGAGTCAGAACCCAAGGG 6042113 6042283 6042229 6042230 6042230 upstr_intron -3 -0.03571429 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCCAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 108 31 0.9930876 1 0.9965438 0.9624491 0.9642438 0.9979641 0.9893434 NA NA -0.004876502 0.01065657 0.9633464 0.9936537 NA 0.002890034 NA FALSE NA 0.997 1.512 . splice_region_variant&intron_variant LOW JAKMIP1 HGNC 26460 ENST00000409021 16/20 1 NA TAG A,G 8.272e-06 4:6042230 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 splice_region_variant 1.657875 0.956 0.55715 0.077194 0.862762 0.473781 0.9931668 TRUE 4.06438e-06 ENSE00001577294_015 ENSE00001577294 015 4 6043841 6044010 - 45 69 56 C T 6043977 340 34 CTCTTTGAACCCTCTCCCCCACCCCCAGGCAGTCAAATCTTTTACCTTCTCCTTCTCCAGGTCCAGCATCTTCTGGGTCAGGGCGGCCTCGGTCCCCTCTATTTGCTTCAGCCACTAGAAAACAGCAGGGACAGGATGGGTGCAGCAAAGTGAGAGTCAGAACCCAAGGG 6042113 6042283 6042249 6042250 6042250 upstr_intron -23 -0.3928571 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCATCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 33 16 0.9949024 1 0.9974512 0.9624491 0.9642438 0.9979641 0.9893434 NA NA -0.003061658 0.01065657 0.9633464 0.9936537 NA 0.003797456 NA FALSE NA 0.622 -0.547 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:6042250 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 intron_variant 0.368937 0.21837 0.02148 0.119485 0.8477217 0.108302 0.9931668 TRUE 0.00024429 ENSE00001577294_017 ENSE00001577294 017 4 6043841 6044010 - 45 69 56 G A 6043978 342 33 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCTGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG 6042113 6042283 6042250 6042251 6042251 upstr_intron -24 -0.4107143 CCCTTGGGTTCTGACTCTCACTTTGCTGCACCTGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 110 111 1 0.9594677 0.9797339 0.9624491 0.9642438 0.9979641 0.9893434 NA NA 0.002035941 -0.02987569 0.9633464 0.9936537 NA -0.01391988 NA FALSE NA 0.62 1.078 NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:6042251 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 intron_variant 0.599947 0.19806 0.08514 0.119485 0.8109999 0.108302 0.9931668 TRUE 2.44844e-05 ENSE00001577294_021 ENSE00001577294 021 4 6043841 6044010 - 45 69 56 C G 6043986 346 25 CCCTTGGGTTCTGACTCTCACTTTCCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG 6042113 6042283 6042258 6042259 6042259 upstr_intron -32 -0.5535714 CCCTTGGGTTCTGACTCTCACTTTCCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 196 121 1 1 1 0.9624491 0.9642438 0.9979641 0.9893434 NA NA 0.002035941 0.01065657 0.9633464 0.9936537 NA 0.006346255 NA FALSE NA 0.004 0.219 . intron_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000409021 16/20 rs560156381 1 NA GCA C,G 8.27e-06 4:6042259 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 intron_variant 1.299969 0.63669 0.04431 0.119485 0.8495096 0.107374 0.9931668 TRUE 8.1584e-06 ENSE00001577294_024 ENSE00001577294 024 4 6043841 6044010 - 45 69 56 A G 6043999 349 12 CTCTTTGAACCCTCTCCCCCACCCCCAGGCAGTCAAATCTTTTACCTTCTCCTTCTCCAGGTCCAGCATCTTCTGGGTCAGGGCGGCCTCGGTCCCCTCTATTTGCTTCAGCCACTAGAAAACAGCAGGGACAGGACGGGTGCAGCAAAGTGAGAGTCGGAACCCAAGGG 6042113 6042283 6042271 6042272 6042272 upstr_intron -45 -0.7857143 CCCTTGGGTTCCGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG mutant NA NA NA NA NA 97 357 0.95 0.9980578 0.9740289 0.9624491 0.9642438 0.9979641 0.9893434 NA NA -0.04796406 0.008714356 0.9633464 0.9936537 NA -0.01962485 NA FALSE NA 0 -0.812 . intron_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000409021 16/20 1 NA CAG A,G 8.269e-06 4:6042272 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001577294 intron_variant -0.256126 0.10376 0.00617 0.119485 0.3318617 0.0609977 0.9931668 TRUE 4.09457e-06 ENSE00001577294_BRK ENSE00001577294 BRK 4 6043841 6044010 - 45 69 56 A,G; T,T NA NA NA CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTTTTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGCCAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG 6042113 6042283 NA NA NA NA NA NA CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTTTTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGCCAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG CCCTTGGGTTCTGACTCTCACTTTGCTGCACCCGTCCTGTCCCTGCTGTTTTCTAGTGGCTGAAGCAAATAGAGGGGACCGAGGCCGCCCTGACCCAGAAGATGCTGGACCTGGAGAAGGAGAAGGTAAAAGATTTGACTGCCTGGGGGTGGGGGAGAGGGTTCAAAGAG control NA NA NA NA NA 303 114 0.004998646 0 0.002499323 0.9624491 0.9642438 0.9979641 0.9893434 NA NA -0.9929654 -0.9893434 0.9633464 0.9936537 NA -0.9911544 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP1 NA NA NA ENSG00000152969 ENSE00001577294 NA NA NA NA NA NA NA 0.9931668 TRUE NA ENSE00001580926_000 ENSE00001580926 000 2 153378409 153378578 + 48 84 38 NA NA NA NA NA TTACTTTTTTCATAAAAGAAAGTGTCACTGTTTCTTACCTGATCACAAATCAGTTCCCATTTTTTCTCATTATCATACTGCCGCAGTAACCTGGCTTTGTCAGGAGGTAGGTTCATAGCATTCTGTTTAAAAAAAATAAAGAGAGAAAAGATGTCACATTCCACAGCAGG 152521894 152522064 NA NA NA NA NA NA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA natural NA NA NA NA NA 1245 5024 0.9860544 0.9747535 0.980404 NA NA 0.9860544 0.9747535 NA NA 0 0 NA 0.980404 NA 0 NA FALSE NA NA NA NA NA NA FMNL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FMNL2 NA NA NA ENSG00000157827 ENSE00001580926 NA NA NA NA NA NA NA 0.9969994 TRUE NA ENSE00001580926_002 ENSE00001580926 002 2 153378409 153378578 + 48 84 38 T C 153378441 2997 33 TTACTTTTTTCATAAAAGAAAGTGTCACTGTTTCTTACCTGATCACAAATCAGTTCCCATTTTTTCTCATTATCATACTGCCGCAGTAACCTGGCTTTGTCAGGAGGTAGGTTCATAGCATTCTGTTTAAAAAAAATGAAGAGAGAAAAGATGTCACATTCCACAGCAGG 152521894 152522064 152521926 152521927 152521927 upstr_intron -16 -0.3125 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTCATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA mutant NA NA NA NA NA 14 13 1 0.8300369 0.9150184 NA NA 0.9860544 0.9747535 NA NA 0.01394559 -0.1447166 NA 0.980404 NA -0.06538551 NA FALSE NA 0.027 1.79 . intron_variant MODIFIER FMNL2 HGNC 18267 ENST00000288670 1/25 1 NA TTA T 8.28e-06 2:152521927 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001580926 intron_variant -0.518617 0.23943 0.29438 0.074636 0.3613898 0.0456277 0.9969994 TRUE 8.1606e-06 ENSE00001580926_004 ENSE00001580926 004 2 153378409 153378578 + 48 84 38 T C 153378459 2999 51 TTACTTTTTTCATAAAAGAAAGTGTCACTGTTTCTTACCTGATCACAAATCAGTTCCCATTTTTTCTCATTATCATACTGCCGCAGTAACCTGGCTTTGTCAGGAGGTAGGTTCATAGCGTTCTGTTTAAAAAAAATAAAGAGAGAAAAGATGTCACATTCCACAGCAGG 152521894 152522064 152521944 152521945 152521945 exon 3 0.03571429 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAACGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA mutant NA NA NA NA NA 924 102 1 1 1 NA NA 0.9860544 0.9747535 NA NA 0.01394559 0.0252465 NA 0.980404 NA 0.01959604 NA FALSE NA 1 1.579 rs4664114 splice_region_variant&synonymous_variant LOW FMNL2 HGNC 18267 ENST00000288670 2/26 rs4664114 1 T:0.3093 C:0.6377 C:0.7723 NA C:0.751 C:0.673 C:0.6605 C:0.6412 C:0.6602 ATG T 0.684 2:152521945 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001580926 splice_region_variant 1.42587 0.98187 0.76248 0.706298 0.8996761 0 0.9969994 TRUE 0.693544 ENSE00001580926_011 ENSE00001580926 011 2 153378409 153378578 + 48 84 38 C T 153378475 3006 67 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTTCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA 152521894 152522064 152521960 152521961 152521961 exon 19 0.2261905 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTTCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA mutant NA NA NA NA NA 78 66 1 1 1 NA NA 0.9860544 0.9747535 NA NA 0.01394559 0.0252465 NA 0.980404 NA 0.01959604 NA FALSE NA 1 7.027 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000288670 2/26 1 probably_damaging(0.999) NA TCC C 8.278e-06 2:152521961 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001580926 missense_variant 6.967233 0.99382 0.96614 0.706298 0.9989798 0 0.9969994 TRUE 4.08137e-06 ENSE00001580926_012 ENSE00001580926 012 2 153378409 153378578 + 48 84 38 T C 153378477 3007 69 TTACTTTTTTCATAAAAGAAAGTGTCACTGTTTCTTACCTGATCACAAATCAGTTCCCATTTTTTCTCATTATCATACTGCCGCAGTAACCTGGCTTTGTCGGGAGGTAGGTTCATAGCATTCTGTTTAAAAAAAATAAAGAGAGAAAAGATGTCACATTCCACAGCAGG 152521894 152522064 152521962 152521963 152521963 exon 21 0.25 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCCGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA mutant NA NA NA NA NA 152 36 1 0.9989358 0.9994679 NA NA 0.9860544 0.9747535 NA NA 0.01394559 0.02418231 NA 0.980404 NA 0.01906395 NA FALSE NA 0.958 0.042 . synonymous_variant LOW FMNL2 HGNC 18267 ENST00000288670 2/26 1 NA CTG T 3.311e-05 2:152521963 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001580926 synonymous_variant 0.566572 0.97476 0.71947 0.706298 0.7719621 0 0.9969994 TRUE 6.12485e-05 ENSE00001580926_014 ENSE00001580926 014 2 153378409 153378578 + 48 84 38 C T 153378496 3009 88 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGTGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA 152521894 152522064 152521981 152521982 152521982 exon 40 0.4761905 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGTGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA mutant NA NA NA NA NA 97 12 1 0.972689 0.9863445 NA NA 0.9860544 0.9747535 NA NA 0.01394559 -0.002064532 NA 0.980404 NA 0.005940529 NA FALSE NA 1 1.988 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000288670 2/26 rs375469230&COSM4085661 1 probably_damaging(0.981) NA T:0 T:0.0001 GCG C 1.656e-05 2:152521982 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001580926 missense_variant 7.698246 0.98626 0.8779 0.706298 0.9973348 0 0.9969994 TRUE 2.45972e-05 ENSE00001580926_015 ENSE00001580926 015 2 153378409 153378578 + 48 84 38 G A 153378497 3010 89 TTACTTTTTTCATAAAAGAAAGTGTCACTGTTTCTTACCTGATCACAAATCAGTTCCCATTTTTTCTCATTATCATACTGCTGCAGTAACCTGGCTTTGTCAGGAGGTAGGTTCATAGCATTCTGTTTAAAAAAAATAAAGAGAGAAAAGATGTCACATTCCACAGCAGG 152521894 152522064 152521982 152521983 152521983 exon 41 0.4880952 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCAGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA mutant NA NA NA NA NA 29 804 0.9319484 1 0.9659742 NA NA 0.9860544 0.9747535 NA NA -0.05410598 0.0252465 NA 0.980404 NA -0.01442974 NA FALSE NA 1 7.068 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000288670 2/26 1 benign(0.253) NA CGG G 8.278e-06 2:152521983 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001580926 missense_variant 5.922142 0.99398 0.9726 0.706298 0.9990832 0 0.9969994 TRUE 8.19001e-06 ENSE00001580926_021 ENSE00001580926 021 2 153378409 153378578 + 48 84 38 A G 153378566 3016 158 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTGTGAAAAAAGTAA 152521894 152522064 152522051 152522052 152522052 downstr_intron 26 1.702703 CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTGTGAAAAAAGTAA CCTGCTGTGGAATGTGACATCTTTTCTCTCTTTATTTTTTTTAAACAGAATGCTATGAACCTACCTCCTGACAAAGCCAGGTTACTGCGGCAGTATGATAATGAGAAAAAATGGGAACTGATTTGTGATCAGGTAAGAAACAGTGACACTTTCTTTTATGAAAAAAGTAA mutant NA NA NA NA NA 24 117 1 1 1 NA NA 0.9860544 0.9747535 NA NA 0.01394559 0.0252465 NA 0.980404 NA 0.01959604 NA FALSE NA 0.007 0.399 . intron_variant MODIFIER FMNL2 HGNC 18267 ENST00000288670 2/25 1 NA TAT A 8.279e-06 2:152522052 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001580926 intron_variant 1.502338 0.17939 0.00823 0.053691 0.7169804 0.145123 0.9969994 TRUE 4.34416e-06 ENSE00001582317_000 ENSE00001582317 000 17 58979933 58980102 + 48 84 38 NA NA NA NA NA CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 NA NA NA NA NA NA CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT natural 90 48 0.9993195 0.9946666 0.9969931 4667 3910 0.9139897 0.9947445 0.9543671 0.9993195 0.9946666 0.9139897 0.9947445 0 0 0 0 0.9969931 0.9543671 0 0 0 FALSE FALSE NA NA NA NA NA BCAS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCAS3 NA NA NA ENSG00000141376 ENSE00003570000 NA NA NA NA NA NA NA 0.9988482 TRUE NA ENSE00001582317_001 ENSE00001582317 001 17 58979933 58980102 + 48 84 38 A G 58979949 2770 17 CAGATTAATAGAAATGGCGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902587 60902588 60902588 upstr_intron -32 -0.6458333 CAGATTAATAGAAATGGCGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 1163 126 1 1 1 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 0.005255543 0.9969931 0.9543671 NA 0.04563291 NA FALSE NA 0.538 2.531 . intron_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 1/5 1 NA GAC A,G 5.791e-05 17:60902588 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 intron_variant -0.259359 0.97905 0.80078 0.074636 0.4244634 0.396069 0.9988482 TRUE 3.26629e-05 ENSE00001582317_002 ENSE00001582317 002 17 58979933 58980102 + 48 84 38 C T 58979950 2771 18 CAGATTAATAGAAATGATGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902588 60902589 60902589 upstr_intron -31 -0.625 CAGATTAATAGAAATGATGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 973 351 0.9908381 0.9981222 0.9944802 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.07684841 0.003377731 0.9969931 0.9543671 NA 0.04011307 NA FALSE NA 0.46 0.856 . intron_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 1/5 1 NA ACG C,T 4.137e-05 17:60902589 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 intron_variant 0.131499 0.97652 0.50049 0.074636 0.5501085 0.263232 0.9988482 TRUE 5.31146e-05 ENSE00001582317_003 ENSE00001582317 003 17 58979933 58980102 + 48 84 38 G A 58979951 2772 19 CAGATTAATAGAAATGACATTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902589 60902590 60902590 upstr_intron -30 -0.6041667 CAGATTAATAGAAATGACATTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 384 546 0.8314302 1 0.9157151 0.9993195 0.9946666 0.9139897 0.9947445 NA NA -0.08255956 0.005255543 0.9969931 0.9543671 NA -0.03865201 NA FALSE NA 0.283 1.315 . intron_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 1/5 rs553689541 1 NA CGT T,A 4.137e-05 17:60902590 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 intron_variant 0.01698 0.97963 0.30642 0.074636 0.7288562 0.253735 0.9988482 TRUE 4.0811e-05 ENSE00001582317_005 ENSE00001582317 005 17 58979933 58980102 + 48 84 38 T C 58979963 2774 31 CAGATTAATAGAAATGACGTTCTGCTTCTCCCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902601 60902602 60902602 upstr_intron -18 -0.3541667 CAGATTAATAGAAATGACGTTCTGCTTCTCCCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 670 763 1 0.996326 0.998163 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 0.001581538 0.9969931 0.9543671 NA 0.0437959 NA FALSE NA 0.004 3.041 . intron_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 1/5 rs202058797 1 NA C:0.0003 C:0 CTC T,C 8.273e-06 17:60902602 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 intron_variant -0.638629 0.47955 0.63252 0.074636 0.5216621 0.0853353 0.9988482 TRUE 4.07246e-06 ENSE00001582317_006 ENSE00001582317 006 17 58979933 58980102 + 48 84 38 A G 58979984 2775 52 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGGTTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902622 60902623 60902623 exon 4 0.04761905 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGGTTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 364 323 1 0.9929886 0.9964943 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 -0.001755889 0.9969931 0.9543671 NA 0.04212719 NA FALSE NA 1 8.94 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 1 NA GAT A,G 8.273e-06 17:60902623 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 missense_variant 1.28659 0.99315 0.98825 0.693126 0.9886619 0 0.9988482 TRUE 4.06616e-06 ENSE00001582317_007 ENSE00001582317 007 17 58979933 58980102 + 48 84 38 C G 58979987 2776 55 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTGGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902625 60902626 60902626 exon 7 0.08333333 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTGGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 256 538 0.9994009 0.9999292 0.9996651 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08541114 0.005184774 0.9969931 0.9543671 NA 0.04529796 NA FALSE NA 1 3.75 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 1 NA TCG C,G 8.272e-06 17:60902626 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 missense_variant 4.412496 0.98402 0.93839 0.693126 0.9910085 0 0.9988482 TRUE 2.84627e-05 ENSE00001582317_008 ENSE00001582317 008 17 58979933 58980102 + 48 84 38 T C 58979995 2777 63 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCACCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902633 60902634 60902634 exon 15 0.1785714 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCACCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 187 463 1 0.9989242 0.9994621 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 0.004179783 0.9969931 0.9543671 NA 0.04509503 NA FALSE NA 1 1.996 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 1 NA ATC T,C 8.272e-06 17:60902634 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 synonymous_variant -0.49497 0.97563 0.81366 0.693126 0.7487712 0 0.9988482 TRUE 4.06488e-06 ENSE00001582317_009 ENSE00001582317 009 17 58979933 58980102 + 48 84 38 C T 58980002 2778 70 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCTGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902640 60902641 60902641 exon 22 0.2619048 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCTGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 44 149 1 0.9939006 0.9969503 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 -0.0008438717 0.9969931 0.9543671 NA 0.0425832 NA FALSE NA 1 7.468 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 rs371260723 1 NA T:0 T:0.0001 CCG C,T 1.654e-05 17:60902641 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 missense_variant 4.438473 0.99471 0.98206 0.693126 0.9993743 0 0.9988482 TRUE 1.62603e-05 ENSE00001582317_010 ENSE00001582317 010 17 58979933 58980102 + 48 84 38 G A 58980003 2779 71 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCATGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902641 60902642 60902642 exon 23 0.2738095 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCATGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 240 24 0.9993609 0.9763224 0.9878417 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08537116 -0.01842203 0.9969931 0.9543671 NA 0.03347456 NA FALSE NA 1 7.613 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 rs201556656&COSM2793576&COSM4068392 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0.0003 A:0 CGT G,A 8.271e-05 17:60902642 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 missense_variant 3.675809 0.99484 0.98457 0.693126 0.9993219 0 0.9988482 TRUE 7.31666e-05 ENSE00001582317_011 ENSE00001582317 011 17 58979933 58980102 + 48 84 38 G C 58980005 2780 73 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTCGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902643 60902644 60902644 exon 25 0.297619 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTCGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 1206 75 0.9983158 1 0.9991579 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.0843261 0.005255543 0.9969931 0.9543671 NA 0.04479082 NA FALSE NA 1 9.453 rs139472840 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 rs139472840 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TGG G,C 8.271e-06 17:60902644 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 missense_variant 6.104838 0.99507 0.99193 0.693126 0.9994096 0 0.9988482 TRUE 4.06471e-06 ENSE00001582317_012 ENSE00001582317 012 17 58979933 58980102 + 48 84 38 C T 58980013 2781 81 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCTTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902651 60902652 60902652 exon 33 0.3928571 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCTTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 66 902 1 0.993278 0.996639 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 -0.001466417 0.9969931 0.9543671 NA 0.04227193 NA FALSE NA 1 0.907 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 1 NA CCT C,T 8.272e-06 17:60902652 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 synonymous_variant 1.478195 0.97239 0.81211 0.693126 0.8579557 0 0.9988482 TRUE 4.06435e-06 ENSE00001582317_013 ENSE00001582317 013 17 58979933 58980102 + 48 84 38 G A 58980018 2782 86 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGAAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902656 60902657 60902657 exon 38 0.452381 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGAAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 230 773 1 0.9974434 0.9987217 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 0.002698937 0.9969931 0.9543671 NA 0.0443546 NA FALSE NA 1 9.453 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 1 NA GGA G,A 8.272e-06 17:60902657 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 missense_variant 5.968758 0.99481 0.98991 0.693126 0.9982932 0 0.9988482 TRUE 8.12843e-06 ENSE00001582317_014 ENSE00001582317 014 17 58979933 58980102 + 48 84 38 G A 58980020 2783 88 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAAACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902658 60902659 60902659 exon 40 0.4761905 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAAACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 1614 99 0.9986923 1 0.9993462 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08470258 0.005255543 0.9969931 0.9543671 NA 0.04497906 NA FALSE NA 1 9.453 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 1 NA AGA G,A 1.654e-05 17:60902659 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 missense_variant 3.382079 0.99481 0.98991 0.693126 0.9980784 0 0.9988482 TRUE 2.03211e-05 ENSE00001582317_015 ENSE00001582317 015 17 58979933 58980102 + 48 84 38 C T 58980049 2784 117 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTTATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902687 60902688 60902688 exon -16 0.8214286 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTTATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant 15 70 1 0.9543009 0.9771505 516 146 0.9961901 1 0.9980951 0.9993195 0.9946666 0.9139897 0.9947445 0.0006804877 -0.04036566 0.08220041 0.005255543 0.9969931 0.9543671 -0.01984258 0.04372798 0.06357056 FALSE FALSE 1 1.254 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/6 1 NA TCA C,T 8.272e-06 17:60902688 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 synonymous_variant 0.962217 0.97951 0.86848 0.693126 0.856702 0 0.9988482 TRUE 4.06382e-06 ENSE00001582317_017 ENSE00001582317 017 17 58979933 58980102 + 48 84 38 C T 58980072 2786 140 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTATCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902710 60902711 60902711 downstr_intron 8 1.216216 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTATCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 614 1093 0.9798624 0.9971289 0.9884956 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.06587265 0.002384418 0.9969931 0.9543671 NA 0.03412853 NA FALSE NA 0.476 0.035 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW BCAS3 HGNC 14347 ENST00000586041 2/5 1 NA ACC C,T 8.275e-06 17:60902711 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 splice_region_variant -0.000246 0.22993 0.13424 0.074636 0.693358 0.514999 0.9988482 TRUE 4.07199e-06 ENSE00001582317_018 ENSE00001582317 018 17 58979933 58980102 + 48 84 38 C T 58980073 2787 141 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACTTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902711 60902712 60902712 downstr_intron 9 1.243243 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACTTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 1266 759 1 1 1 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 0.005255543 0.9969931 0.9543671 NA 0.04563291 NA FALSE NA 0.485 0.493 . intron_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/5 rs376772947 1 NA T:0.0003 T:0.0001 CCT C,T 2.482e-05 17:60902712 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 intron_variant -0.016689 0.23459 0.10306 0.074636 0.6849713 0.44035 0.9988482 TRUE 3.66527e-05 ENSE00001582317_019 ENSE00001582317 019 17 58979933 58980102 + 48 84 38 C T 58980076 2788 144 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCTGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 60902714 60902715 60902715 downstr_intron 12 1.324324 CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCTGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT mutant NA NA NA NA NA 595 255 1 1 1 0.9993195 0.9946666 0.9139897 0.9947445 NA NA 0.08601027 0.005255543 0.9969931 0.9543671 NA 0.04563291 NA FALSE NA 0.002 0.036 . intron_variant&non_coding_transcript_variant MODIFIER BCAS3 HGNC 14347 ENST00000586041 2/5 1 NA CCG C,T 6.62e-05 17:60902715 BCAS3 HGNC Symbol protein_coding 715385 ENSG00000141376 ENSE00003570000 intron_variant -0.51219 0.19082 0.02903 0.074636 0.7803206 0.0863722 0.9988482 TRUE 5.2967e-05 ENSE00001582317_BRK ENSE00001582317 BRK 17 58979933 58980102 + 48 84 38 A,G; T,T NA NA NA CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCTTTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAACCGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT 60902571 60902741 NA NA NA NA NA NA CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCTTTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAACCGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT CAGATTAATAGAAATGACGTTCTGCTTCTCTCTCTCTCTTTTTCTCAGTTGATTCGATGTCATCAGTCCCGTGGTGGAGCCTGTGGAGACAACATTCAGTCTTATACTGCCACAGTCATTAGTGCTGCTAAAGTGAGTACCTCCGAAATCTTGGAGAGTTGTGGTTATGT control 240 143 0.06414024 0.137806 0.1009731 NA NA NA NA NA 0.9993195 0.9946666 0.9139897 0.9947445 -0.9351793 -0.8568606 NA NA 0.9969931 0.9543671 -0.8960199 NA NA NA TRUE NA NA NA NA NA BCAS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCAS3 NA NA NA ENSG00000141376 ENSE00003570000 NA NA NA NA NA NA NA 0.9988482 TRUE NA ENSE00001582750_000 ENSE00001582750 000 17 5271624 5271793 + 41 99 30 NA NA NA NA NA CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 NA NA NA NA NA NA CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT natural 39 23 0.831927 0.8975315 0.8647292 7788 6927 0.8825496 0.8978075 0.8901785 0.831927 0.8975315 0.8825496 0.8978075 0 0 0 0 0.8647292 0.8901785 0 0 0 FALSE FALSE NA NA NA NA NA RABEP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RABEP1 NA NA NA ENSG00000029725 ENSE00003622269 NA NA NA NA NA NA NA 0.9828151 TRUE NA ENSE00001582750_BRK ENSE00001582750 BRK 17 5271624 5271793 + 41 99 30 A,G; T,T NA NA NA CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAATTATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGCCAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 NA NA NA NA NA NA CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAATTATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGCCAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT control 527 1024 0 0.005089021 0.002544511 370 1598 0.02805121 0.008610711 0.01833096 0.831927 0.8975315 0.8825496 0.8978075 -0.831927 -0.8924425 -0.8544984 -0.8891968 0.8647292 0.8901785 -0.8621847 -0.8718476 0.009662854 TRUE TRUE NA NA NA NA NA RABEP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RABEP1 NA NA NA ENSG00000029725 ENSE00003622269 NA NA NA NA NA NA NA 0.9828151 TRUE NA ENSE00001587179_000 ENSE00001587179 000 1 3160586 3160755 + 65 51 54 NA NA NA NA NA CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 NA NA NA NA NA NA GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG natural 100 31 0.8904868 0.990691 0.9405889 5358 1656 0.9829049 0.9894449 0.9861749 0.8904868 0.990691 0.9829049 0.9894449 0 0 0 0 0.9405889 0.9861749 0 0 0 FALSE FALSE NA NA NA NA NA PRDM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRDM16 NA NA NA ENSG00000142611 ENSE00003480863 NA NA NA NA NA NA NA 0.9998432 TRUE NA ENSE00001587179_001 ENSE00001587179 001 1 3160586 3160755 + 65 51 54 T C 3160607 1 22 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACGTTCTCAAGCTACACTGGGTTC 3244021 3244191 3244042 3244043 3244043 upstr_intron -44 -0.6615385 GAACCCAGTGTAGCTTGAGAACGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 171 3018 1 0.9892551 0.9946276 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 -0.0001897513 0.9405889 0.9861749 NA 0.008452684 NA FALSE NA 0 -0.262 . intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 2/16 1 NA ATG T,C 1.654e-05 1:3244043 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.22706 0.03405 0.00035 0.053691 0.4515782 0.0448725 0.9998432 TRUE 1.21922e-05 ENSE00001587179_003 ENSE00001587179 003 1 3160586 3160755 + 65 51 54 C T 3160629 3 44 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGAGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244064 3244065 3244065 upstr_intron -22 -0.3230769 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACTCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 237 116 1 1 1 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.01055511 0.9405889 0.9861749 NA 0.01382511 NA FALSE NA 0.007 1.617 . intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 2/16 1 NA CCC C,T 1.654e-05 1:3244065 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant 0.310022 0.15224 0.08881 0.053691 0.6543029 0.0945736 0.9998432 TRUE 8.1248e-06 ENSE00001587179_005 ENSE00001587179 005 1 3160586 3160755 + 65 51 54 C T 3160633 5 48 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAAAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244068 3244069 3244069 upstr_intron -18 -0.2615385 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTTTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 98 169 1 0.9997745 0.9998872 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.0103296 0.9405889 0.9861749 NA 0.01371236 NA FALSE NA 0 -1.433 . intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 2/16 1 NA TCT C,T 9.925e-05 1:3244069 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.149464 0.06156 0.0028 0.053691 0.4672357 0.0937141 0.9998432 TRUE 6.9054e-05 ENSE00001587179_006 ENSE00001587179 006 1 3160586 3160755 + 65 51 54 C G 3160657 6 72 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCACTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244092 3244093 3244093 exon 7 0.1372549 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATAGTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 50 898 1 0.999319 0.9996595 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.009874139 0.9405889 0.9861749 NA 0.01348463 NA FALSE NA 1 2.944 . missense_variant MODERATE PRDM16 HGNC 14000 ENST00000441472 3/17 1 benign(0.094) NA ACT C,G 8.269e-06 1:3244093 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 missense_variant 2.403678 0.97039 0.95592 0.487112 0.9762568 0 0.9998432 TRUE 4.06187e-06 ENSE00001587179_007 ENSE00001587179 007 1 3160586 3160755 + 65 51 54 C T 3160661 7 76 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCATCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244096 3244097 3244097 exon 11 0.2156863 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGATGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 804 800 1 0.9998023 0.9999011 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.01035737 0.9405889 0.9861749 NA 0.01372624 NA FALSE NA 0.977 2.447 . missense_variant MODERATE PRDM16 HGNC 14000 ENST00000441472 3/17 rs530119550 1 possibly_damaging(0.467) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACG C,T 5.788e-05 1:3244097 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 missense_variant 3.533624 0.95385 0.91916 0.487112 0.9775859 0 0.9998432 TRUE 4.87432e-05 ENSE00001587179_009 ENSE00001587179 009 1 3160586 3160755 + 65 51 54 C T 3160665 9 80 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACATCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244100 3244101 3244101 exon 15 0.2941176 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGATGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 56 201 0.9641582 0.9622726 0.9632154 0.8904868 0.990691 0.9829049 0.9894449 NA NA -0.01874669 -0.02717225 0.9405889 0.9861749 NA -0.02295947 NA FALSE NA 0.172 0.544 . synonymous_variant LOW PRDM16 HGNC 14000 ENST00000441472 3/17 1 NA ACG C,T 1.653e-05 1:3244101 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 synonymous_variant 0.905287 0.05117 0.00838 0.487112 0.4055214 0 0.9998432 TRUE 1.21863e-05 ENSE00001587179_011 ENSE00001587179 011 1 3160586 3160755 + 65 51 54 C T 3160676 11 91 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCAACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244111 3244112 3244112 exon -26 0.5098039 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTTGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 357 117 1 1 1 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.01055511 0.9405889 0.9861749 NA 0.01382511 NA FALSE NA 0.925 2.196 . missense_variant MODERATE PRDM16 HGNC 14000 ENST00000441472 3/17 rs552668116 1 benign(0.048) NA TCG C,T 2.479e-05 1:3244112 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 missense_variant 3.56498 0.85263 0.83035 0.487112 0.995294 0 0.9998432 TRUE 3.24989e-05 ENSE00001587179_012 ENSE00001587179 012 1 3160586 3160755 + 65 51 54 G A 3160677 12 92 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGTGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244112 3244113 3244113 exon -25 0.5294118 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCACCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 1659 63 0.9994779 0.9949457 0.9972118 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01657302 0.005500848 0.9405889 0.9861749 NA 0.01103693 NA FALSE NA 0.803 -0.065 . synonymous_variant LOW PRDM16 HGNC 14000 ENST00000441472 3/17 rs201641748 1 NA A:0 A:0.0001 CGC G,A 2.479e-05 1:3244113 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 synonymous_variant 0.485955 0.20349 0.24752 0.487112 0.7509972 0 0.9998432 TRUE 2.03128e-05 ENSE00001587179_013 ENSE00001587179 013 1 3160586 3160755 + 65 51 54 C T 3160679 13 94 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGAGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244114 3244115 3244115 exon -23 0.5686275 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCTCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 325 439 0.9998733 1 0.9999367 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01696842 0.01055511 0.9405889 0.9861749 NA 0.01376177 NA FALSE NA 0.904 3.934 . missense_variant MODERATE PRDM16 HGNC 14000 ENST00000441472 3/17 1 benign(0.108) NA CCC C,T 8.264e-06 1:3244115 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 missense_variant 3.113594 0.597 0.84361 0.487112 0.9945679 0 0.9998432 TRUE 4.06243e-06 ENSE00001587179_014 ENSE00001587179 014 1 3160586 3160755 + 65 51 54 C T 3160692 14 107 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATACAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244127 3244128 3244128 exon -10 0.8235294 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGTATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 512 30 0.993654 0.9946913 0.9941726 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01074913 0.00524636 0.9405889 0.9861749 NA 0.007997744 NA FALSE NA 1 1.537 rs150097149 synonymous_variant LOW PRDM16 HGNC 14000 ENST00000441472 3/17 rs150097149 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0031 T:0 GCA C,T 0.0002065 1:3244128 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 synonymous_variant 0.897332 0.94757 0.81477 0.487112 0.7492618 0 0.9998432 TRUE 0.000190996 ENSE00001587179_017 ENSE00001587179 017 1 3160586 3160755 + 65 51 54 G A 3160714 17 129 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGTGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244149 3244150 3244150 downstr_intron 13 1.245283 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCACCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 139 202 1 0.987262 0.993631 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 -0.002182866 0.9405889 0.9861749 NA 0.007456126 NA FALSE NA 0 -0.813 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:3244150 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.379953 0.04295 0.01327 0.053691 0.6289526 0.0977633 0.9998432 TRUE 1.62904e-05 ENSE00001587179_018 ENSE00001587179 018 1 3160586 3160755 + 65 51 54 G T 3160714 18 129 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGAGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244149 3244150 3244150 downstr_intron 13 1.245283 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCTCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 178 445 1 1 1 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.01055511 0.9405889 0.9861749 NA 0.01382511 NA FALSE NA 0 -0.813 NA NA NA PRDM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRDM16 NA NA NA ENSG00000142611 ENSE00003480863 intron_variant -0.571398 0.04574 0.008 0.053691 0.5238324 0.0977633 0.9998432 TRUE 1.22178e-05 ENSE00001587179_019 ENSE00001587179 019 1 3160586 3160755 + 65 51 54 C T 3160716 19 131 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGAGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244151 3244152 3244152 downstr_intron 15 1.283019 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCTCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 49 630 1 0.9071064 0.9535532 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 -0.08233851 0.9405889 0.9861749 NA -0.0326217 NA FALSE NA 0 -1.591 rs182265560 intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 3/16 rs182265560 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0014 T:0 CCC C,T 8.262e-05 1:3244152 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.031642 0.04152 0.00281 0.053691 0.598643 0.157275 0.9998432 TRUE 6.10854e-05 ENSE00001587179_021 ENSE00001587179 021 1 3160586 3160755 + 65 51 54 C G 3160720 21 135 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCCCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244155 3244156 3244156 downstr_intron 19 1.358491 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGGGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 92 18 1 1 1 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.01055511 0.9405889 0.9861749 NA 0.01382511 NA FALSE NA 0 -3.876 NA NA NA PRDM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:3244156 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.129765 0.08349 0.01151 0.053691 0.3074145 0.0989383 0.9998432 TRUE 0.000366772 ENSE00001587179_023 ENSE00001587179 023 1 3160586 3160755 + 65 51 54 G A 3160721 23 136 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGTGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244156 3244157 3244157 downstr_intron 20 1.377358 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCACCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 12 211 1 0.998498 0.999249 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.00905306 0.9405889 0.9861749 NA 0.01307409 NA FALSE NA 0 -0.984 . intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 3/16 rs531910591 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 8.261e-06 1:3244157 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant 0.008503 0.07314 0.01141 0.053691 0.4501995 0.10616 0.9998432 TRUE NA ENSE00001587179_024 ENSE00001587179 024 1 3160586 3160755 + 65 51 54 C T 3160723 24 138 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACAGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244158 3244159 3244159 downstr_intron 22 1.415094 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCTGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 3694 79 0.9980959 0.9959748 0.9970354 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01519099 0.006529947 0.9405889 0.9861749 NA 0.01086047 NA FALSE NA 0 -0.069 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:3244159 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant 0.179799 0.07223 0.0165 0.053691 0.705358 0.156572 0.9998432 TRUE 4.07751e-06 ENSE00001587179_025 ENSE00001587179 025 1 3160586 3160755 + 65 51 54 C G 3160723 25 138 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACCGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244158 3244159 3244159 downstr_intron 22 1.415094 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCGGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 30 1351 0.95 0.9919199 0.9709599 0.8904868 0.990691 0.9829049 0.9894449 NA NA -0.03290488 0.002474964 0.9405889 0.9861749 NA -0.01521496 NA FALSE NA 0 -0.069 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRDM16 NA NA NA ENSG00000142611 ENSE00003480863 intron_variant 0.042523 0.08897 0.01529 0.053691 0.3450812 0.156572 0.9998432 TRUE 8.15501e-06 ENSE00001587179_026 ENSE00001587179 026 1 3160586 3160755 + 65 51 54 G A 3160724 26 139 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGATGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244159 3244160 3244160 downstr_intron 23 1.433962 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCATCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 152 338 1 0.9917083 0.9958541 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.002263364 0.9405889 0.9861749 NA 0.009679241 NA FALSE NA 0 -1.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:3244160 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.219435 0.05862 0.00945 0.053691 0.7443934 0.10616 0.9998432 TRUE 0.000350811 ENSE00001587179_027 ENSE00001587179 027 1 3160586 3160755 + 65 51 54 G T 3160724 27 139 CAGGAGCTCCGAGGACGCTGGGGAGCTGAGAAGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244159 3244160 3244160 downstr_intron 23 1.433962 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCTTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 134 134 1 1 1 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.01055511 0.9405889 0.9861749 NA 0.01382511 NA FALSE NA 0 -1.522 NA NA NA PRDM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRDM16 NA NA NA ENSG00000142611 ENSE00003480863 intron_variant -0.36818 0.05221 0.00138 0.053691 0.572453 0.10616 0.9998432 TRUE 8.1584e-06 ENSE00001587179_029 ENSE00001587179 029 1 3160586 3160755 + 65 51 54 A G 3160729 29 144 CAGGAGCTCCGAGGACGCTGGGGAGCCGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244164 3244165 3244165 downstr_intron 28 1.528302 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCGGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 113 204 1 0.9903465 0.9951733 0.8904868 0.990691 0.9829049 0.9894449 NA NA 0.01709512 0.0009016263 0.9405889 0.9861749 NA 0.008998372 NA FALSE NA 0 -3.985 . intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 3/16 1 NA CAG A,G 8.261e-06 1:3244165 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.612974 0.04119 0.00249 0.053691 0.09917884 0.109704 0.9998432 TRUE 4.0829e-06 ENSE00001587179_030 ENSE00001587179 030 1 3160586 3160755 + 65 51 54 C T 3160739 30 154 CAGGAGCTCCGAGGACACTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244174 3244175 3244175 downstr_intron 38 1.716981 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGTGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant 18 12 0.976143 1 0.9880715 486 265 1 1 1 0.8904868 0.990691 0.9829049 0.9894449 0.08565623 0.009308985 0.01709512 0.01055511 0.9405889 0.9861749 0.04748261 0.01382511 0.03365749 FALSE FALSE 0 -1.961 . intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 3/16 rs373475171 1 NA T:0 T:0.0001 GCG C,T 0.0002313 1:3244175 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.299038 0.05352 0.00612 0.053691 0.8010229 0.0545518 0.9998432 TRUE 0.000147514 ENSE00001587179_031 ENSE00001587179 031 1 3160586 3160755 + 65 51 54 G A 3160740 31 155 CAGGAGCTCCGAGGATGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244175 3244176 3244176 downstr_intron 39 1.735849 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCATCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 1663 1692 0.9108912 0.9984328 0.954662 0.8904868 0.990691 0.9829049 0.9894449 NA NA -0.07201365 0.008987885 0.9405889 0.9861749 NA -0.03151288 NA FALSE NA 0 -0.651 . intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 3/16 rs377213212 1 A:0.0024 A:0.0076 A:0.0029 NA A:0 A:0 A:0 A:0.0077 A:0 CGT G,A 0.0007518 1:3244176 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant -0.348023 0.06296 0.006 0.053691 0.7889012 0.0545518 0.9998432 TRUE 0.000750215 ENSE00001587179_032 ENSE00001587179 032 1 3160586 3160755 + 65 51 54 C T 3160745 32 160 CAGGAGCTCCAAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTACCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGCTGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 3244180 3244181 3244181 downstr_intron 44 1.830189 GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTTGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG mutant NA NA NA NA NA 373 1062 0.9603534 0.9180668 0.9392101 0.8904868 0.990691 0.9829049 0.9894449 NA NA -0.02255145 -0.07137814 0.9405889 0.9861749 NA -0.0469648 NA FALSE NA 0 0.1 . intron_variant MODIFIER PRDM16 HGNC 14000 ENST00000441472 3/16 rs533648997 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 8.261e-05 1:3244181 PRDM16 HGNC Symbol protein_coding 369453 ENSG00000142611 ENSE00003480863 intron_variant 0.07897 0.06073 0.00095 0.053691 0.728043 0.0545518 0.9998432 TRUE 0.000111017 ENSE00001587179_BRK ENSE00001587179 BRK 1 3160586 3160755 + 65 51 54 A,G; T,T NA NA NA CAGGAGCTCCGAGGACGCTGGGGAGCTGAGACGGCGCAGGGCGAGCTCTCCTGGCTTTGTGATGCAGCCTTCCTGGGGCGACACTTCCACGTCCGTCAGTATTTGAAGCAAAACAATTTTGAGAGGGGTTGTTAGTTTCTGATAAAACATTCTCAAGCTACACTGGGTTC 3244021 3244191 NA NA NA NA NA NA GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCTTCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGCCAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG GAACCCAGTGTAGCTTGAGAATGTTTTATCAGAAACTAACAACCCCTCTCAAAATTGTTTTGCAGCAAATACTGACGGACGTGGAAGTGTCGCCCCAGGAAGGCTGCATCACAAAGGTAGGAGAGCTCGCCCTGCGCCGTCTCAGCTCCCCAGCGTCCTCGGAGCTCCTG control 203 52 0 0 0 1243 160 0 0.00402645 0.002013225 0.8904868 0.990691 0.9829049 0.9894449 -0.8904868 -0.990691 -0.9829049 -0.9854184 0.9405889 0.9861749 -0.9405889 -0.9841617 0.04357275 TRUE TRUE NA NA NA NA NA PRDM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRDM16 NA NA NA ENSG00000142611 ENSE00003480863 NA NA NA NA NA NA NA 0.9998432 TRUE NA ENSE00001589348_000 ENSE00001589348 000 4 6031396 6031565 - 47 66 57 NA NA NA NA NA ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 NA NA NA NA NA NA AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT natural NA NA NA NA NA 2471 5179 0.9623422 0.9224619 0.942402 NA NA 0.9623422 0.9224619 NA NA 0 0 NA 0.942402 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP1 NA NA NA ENSG00000152969 ENSE00001589348 NA NA NA NA NA NA NA 0.9931668 TRUE NA ENSE00001589348_001 ENSE00001589348 001 4 6031396 6031565 - 47 66 57 C T 6031439 306 127 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACTTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029711 6029712 6029712 downstr_intron 4 1.086957 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAAGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 882 800 0.9989559 0.998366 0.998661 NA NA 0.9623422 0.9224619 NA NA 0.0366137 0.07590414 NA 0.942402 NA 0.05625892 NA FALSE NA 0.29 0.056 NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:6029712 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 splice_region_variant 1.371456 0.18767 0.04053 0.080785 0.7923916 0.343349 0.9931668 TRUE 4.03479e-05 ENSE00001589348_003 ENSE00001589348 003 4 6031396 6031565 - 47 66 57 C T 6031451 308 115 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTTCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029723 6029724 6029724 exon -9 0.8787879 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGAAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 3154 993 0.8739578 1 0.9369789 NA NA 0.9623422 0.9224619 NA NA -0.08838437 0.07753813 NA 0.942402 NA -0.005423119 NA FALSE NA 1 6.468 . missense_variant MODERATE JAKMIP1 HGNC 26460 ENST00000409021 20/21 1 deleterious(0) probably_damaging(0.981) NA TCC C,T 8.284e-06 4:6029724 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 missense_variant 7.684935 0.99188 0.96994 0.516011 0.9990246 0 0.9931668 TRUE NA ENSE00001589348_004 ENSE00001589348 004 4 6031396 6031565 - 47 66 57 C T 6031452 309 114 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCTAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029724 6029725 6029725 exon -10 0.8636364 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTAGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 1351 390 0.9999695 0.9948629 0.9974162 NA NA 0.9623422 0.9224619 NA NA 0.03762733 0.07240103 NA 0.942402 NA 0.05501418 NA FALSE NA 0.096 -0.514 . synonymous_variant LOW JAKMIP1 HGNC 26460 ENST00000409021 20/21 1 NA CCA C,T 8.284e-05 4:6029725 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 synonymous_variant 1.403347 0.95731 0.15618 0.516011 0.7938416 0 0.9931668 TRUE 0.000118165 ENSE00001589348_005 ENSE00001589348 005 4 6031396 6031565 - 47 66 57 G A 6031466 310 100 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTACCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029738 6029739 6029739 exon -24 0.6515152 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGTACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 698 728 1 0.9862564 0.9931282 NA NA 0.9623422 0.9224619 NA NA 0.03765779 0.06379452 NA 0.942402 NA 0.05072616 NA FALSE NA 1 8.117 . missense_variant MODERATE JAKMIP1 HGNC 26460 ENST00000409021 20/21 1 tolerated(0.12) benign(0.046) NA TGC G,A 8.281e-06 4:6029739 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 missense_variant 3.061818 0.99207 0.97972 0.516011 0.9912425 0 0.9931668 TRUE NA ENSE00001589348_006 ENSE00001589348 006 4 6031396 6031565 - 47 66 57 G A 6031469 311 97 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCACTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029741 6029742 6029742 exon -27 0.6060606 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGTGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 1550 736 0.9482238 0.9959125 0.9720681 NA NA 0.9623422 0.9224619 NA NA -0.01411844 0.07345061 NA 0.942402 NA 0.02966608 NA FALSE NA 0.831 0.248 . missense_variant MODERATE JAKMIP1 HGNC 26460 ENST00000409021 20/21 rs376058279&COSM351047&COSM1056418 1 deleterious(0) probably_damaging(0.999) NA A:0 A:0.0001 CGC G,A 0.0001077 4:6029742 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 missense_variant 6.791658 0.57394 0.45217 0.516011 0.9989499 0 0.9931668 TRUE 6.04292e-05 ENSE00001589348_007 ENSE00001589348 007 4 6031396 6031565 - 47 66 57 C T 6031482 312 84 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCTAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029754 6029755 6029755 exon 27 0.4090909 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTAGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 339 360 0.8978843 0.8404974 0.8691908 NA NA 0.9623422 0.9224619 NA NA -0.06445795 -0.08196451 NA 0.942402 NA -0.07321123 NA FALSE NA 0.312 -0.168 . synonymous_variant LOW JAKMIP1 HGNC 26460 ENST00000409021 20/21 1 NA CCA C,T 8.281e-06 4:6029755 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 synonymous_variant 0.633045 0.93131 0.39723 0.516011 0.661005 0 0.9931668 TRUE NA ENSE00001589348_008 ENSE00001589348 008 4 6031396 6031565 - 47 66 57 C T 6031490 313 76 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTTCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029762 6029763 6029763 exon 19 0.2878788 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGAACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 508 212 0.9990238 0.9507588 0.9748913 NA NA 0.9623422 0.9224619 NA NA 0.03668159 0.02829691 NA 0.942402 NA 0.03248925 NA FALSE NA 1 6.468 . missense_variant MODERATE JAKMIP1 HGNC 26460 ENST00000409021 20/21 1 deleterious(0) benign(0.25) NA TCC C,T 1.656e-05 4:6029763 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 missense_variant 5.465182 0.99188 0.96994 0.516011 0.9985109 0 0.9931668 TRUE 5.6108e-05 ENSE00001589348_009 ENSE00001589348 009 4 6031396 6031565 - 47 66 57 C T 6031493 314 73 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTTCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029765 6029766 6029766 exon 16 0.2424242 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGAAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 659 1001 0.9988074 0.9996839 0.9992456 NA NA 0.9623422 0.9224619 NA NA 0.0364652 0.07722201 NA 0.942402 NA 0.05684361 NA FALSE NA 1 6.468 . missense_variant MODERATE JAKMIP1 HGNC 26460 ENST00000409021 20/21 rs369217731&COSM3604731 1 deleterious(0) probably_damaging(0.996) NA T:0 T:0.0001 TCC C,T 2.485e-05 4:6029766 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 missense_variant 7.443519 0.99188 0.96994 0.516011 0.9988286 0 0.9931668 TRUE 3.02894e-05 ENSE00001589348_010 ENSE00001589348 010 4 6031396 6031565 - 47 66 57 G A 6031496 315 70 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAATTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029768 6029769 6029769 exon 13 0.1969697 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAATTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 29 362 1 0.9954587 0.9977294 NA NA 0.9623422 0.9224619 NA NA 0.03765779 0.07299686 NA 0.942402 NA 0.05532733 NA FALSE NA 0.692 0.957 . synonymous_variant LOW JAKMIP1 HGNC 26460 ENST00000409021 20/21 1 NA AGT G,A 8.283e-06 4:6029769 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 synonymous_variant 0.415441 0.81104 0.48851 0.516011 0.7051033 0 0.9931668 TRUE NA ENSE00001589348_011 ENSE00001589348 011 4 6031396 6031565 - 47 66 57 C T 6031501 316 65 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTTGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029773 6029774 6029774 exon 8 0.1212121 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCAAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 384 488 0.9998928 0.9916337 0.9957632 NA NA 0.9623422 0.9224619 NA NA 0.03755058 0.06917183 NA 0.942402 NA 0.0533612 NA FALSE NA 1 6.468 . missense_variant MODERATE JAKMIP1 HGNC 26460 ENST00000409021 20/21 rs373843338 1 deleterious(0.04) probably_damaging(0.996) NA T:0 T:0.0001 TCG C,T 8.284e-06 4:6029774 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 missense_variant 7.47297 0.98591 0.95843 0.516011 0.9994931 0 0.9931668 TRUE NA ENSE00001589348_012 ENSE00001589348 012 4 6031396 6031565 - 47 66 57 C A 6031507 317 59 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTATCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029779 6029780 6029780 exon 2 0.03030303 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGATAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 2156 466 0.9989755 1 0.9994877 NA NA 0.9623422 0.9224619 NA NA 0.03663328 0.07753813 NA 0.942402 NA 0.05708571 NA FALSE NA 1 4.808 . missense_variant&splice_region_variant MODERATE JAKMIP1 HGNC 26460 ENST00000409021 20/21 COSM179370 1 deleterious(0) benign(0.216) NA TCT C,A 1.657e-05 4:6029780 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 missense_variant 4.708116 0.98259 0.9427 0.516011 0.9790607 0 0.9931668 TRUE NA ENSE00001589348_014 ENSE00001589348 014 4 6031396 6031565 - 47 66 57 C T 6031527 319 39 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTATGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029799 6029800 6029800 upstr_intron -19 -0.3157895 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACATAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 789 1086 0.996129 0.9986836 0.9974063 NA NA 0.9623422 0.9224619 NA NA 0.03378684 0.07622173 NA 0.942402 NA 0.05500428 NA FALSE NA 0 -2.114 . intron_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000409021 19/20 rs201768809 1 T:0.0030 T:0.0106 T:0 NA T:0.001 T:0 T:0 T:0.0057 T:0.0001 ACG T,T 0.0005981 4:6029800 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 intron_variant -0.603748 0.08195 0.00358 0.053691 0.4391489 0.116125 0.9931668 TRUE 0.000509878 ENSE00001589348_015 ENSE00001589348 015 4 6031396 6031565 - 47 66 57 G A 6031528 320 38 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACATGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029800 6029801 6029801 upstr_intron -20 -0.3333333 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACATGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 680 283 0.9982316 0.9965415 0.9973865 NA NA 0.9623422 0.9224619 NA NA 0.03588939 0.07407962 NA 0.942402 NA 0.05498451 NA FALSE NA 0 -0.05 . intron_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000409021 19/20 rs201555526 1 NA CGT G,A 4.155e-05 4:6029801 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 intron_variant -0.363459 0.18183 0.02697 0.053691 0.3807242 0.116125 0.9931668 TRUE 5.28633e-05 ENSE00001589348_017 ENSE00001589348 017 4 6031396 6031565 - 47 66 57 T G 6031531 322 35 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGGCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029803 6029804 6029804 upstr_intron -23 -0.3859649 AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGCCACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 4444 351 0.9981213 1 0.9990606 NA NA 0.9623422 0.9224619 NA NA 0.03577905 0.07753813 NA 0.942402 NA 0.05665859 NA FALSE NA 0.057 1.241 NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:6029804 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 intron_variant 0.115622 0.32115 0.17062 0.053691 0.6514046 0.116125 0.9931668 TRUE 4.97196e-06 ENSE00001589348_018 ENSE00001589348 018 4 6031396 6031565 - 47 66 57 A G 6031535 323 31 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGGAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029807 6029808 6029808 upstr_intron -27 -0.4561404 AGAGTTTTTAAACCTGGAAAACTTACTTTTCCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 886 122 0.8859899 0.9987424 0.9423661 NA NA 0.9623422 0.9224619 NA NA -0.07635235 0.07628052 NA 0.942402 NA -3.591079e-05 NA FALSE NA 0 -0.8 rs147965335 intron_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000409021 19/20 rs147965335 1 G:0.0078 G:0 G:0 NA G:0.0387 G:0 G:0 GAA A,G 0.001833 4:6029808 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 intron_variant -0.09127 0.2195 0.03216 0.053691 0.6525044 0.113915 0.9931668 TRUE 0.00206647 ENSE00001589348_019 ENSE00001589348 019 4 6031396 6031565 - 47 66 57 T C 6031545 324 21 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGCTTTCCAGGTTTAAAAACTCT 6029668 6029838 6029817 6029818 6029818 upstr_intron -37 -0.6315789 AGAGTTTTTAAACCTGGAAAGCTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 2470 1406 0.9979123 0.961369 0.9796406 NA NA 0.9623422 0.9224619 NA NA 0.0355701 0.03890709 NA 0.942402 NA 0.0372386 NA FALSE NA 0 -1.615 . intron_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000409021 19/20 rs368572458 1 C:0.0008 C:0 C:0 NA C:0 C:0 C:0.0041 GTT T,C 4.201e-05 4:6029818 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 intron_variant -0.121603 0.13258 0.01411 0.053691 0.3641126 0.112073 0.9931668 TRUE 2.24588e-05 ENSE00001589348_020 ENSE00001589348 020 4 6031396 6031565 - 47 66 57 C T 6031550 325 16 ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTACCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTCTGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCTAGGTTTAAAAACTCT 6029668 6029838 6029822 6029823 6029823 upstr_intron -42 -0.7192982 AGAGTTTTTAAACCTAGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT mutant NA NA NA NA NA 823 252 0.9990964 1 0.9995482 NA NA 0.9623422 0.9224619 NA NA 0.03675423 0.07753813 NA 0.942402 NA 0.05714618 NA FALSE NA 0 -0.009 rs191428347 intron_variant MODIFIER JAKMIP1 HGNC 26460 ENST00000409021 19/20 rs191428347 1 T:0.0008 T:0 T:0.0058 NA T:0 T:0 T:0 CCA C,T 2.526e-05 4:6029823 JAKMIP1 HGNC Symbol protein_coding 174392 ENSG00000152969 ENSE00001589348 intron_variant -0.121491 0.16467 0.01587 0.053691 0.6083697 0.0643616 0.9931668 TRUE 2.30261e-05 ENSE00001589348_BRK ENSE00001589348 BRK 4 6031396 6031565 - 47 66 57 A,G; T,T NA NA NA ATTTCATGGAAAGAAACCTGGGGACAGTCTGAGCTGCAGTCACCTGGCTTTTCCTCCAGTTCTTTCAGGTGCCGCTTCTGAAACTCCAGTTTGTCCTCCAGTTCTCGGATTCTAAGAAATACACCAGGTTACGTGTCAGAAAAAGTAAGTTTTCCAGGTTTAAAAACTCT 6029668 6029838 NA NA NA NA NA NA AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCTTAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGCCAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT AGAGTTTTTAAACCTGGAAAACTTACTTTTTCTGACACGTAACCTGGTGTATTTCAGAGAATCCGAGAACTGGAGGACAAACTGGAGTTTCAGAAGCGGCACCTGAAAGAACTGGAGGAAAAGGTAGGTGACTGCAGCTCAGACTGTCCCCAGGTTTCTTTCCATGAAAT control 140 91 0 0 0 154 199 0.01402555 0.001611387 0.007818469 NA NA 0.9623422 0.9224619 NA NA -0.9483167 -0.9208505 NA 0.942402 NA -0.9345836 NA TRUE NA NA NA NA NA NA JAKMIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP1 NA NA NA ENSG00000152969 ENSE00001589348 NA NA NA NA NA NA NA 0.9931668 TRUE NA ENSE00001589892_000 ENSE00001589892 000 10 64219438 64219607 + 62 57 51 NA NA NA NA NA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 NA NA NA NA NA NA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA natural NA NA NA NA NA 805 461 0.9944874 0.9996568 0.9970721 NA NA 0.9944874 0.9996568 NA NA 0 0 NA 0.9970721 NA 0 NA FALSE NA NA NA NA NA NA ZNF365 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF365 NA NA NA ENSG00000138311 ENSE00001589892 NA NA NA NA NA NA NA 3.621154e-05 FALSE NA ENSE00001589892_001 ENSE00001589892 001 10 64219438 64219607 + 62 57 51 C T 64219456 1122 19 TGACTTATTCAGTCTACATACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459696 62459697 62459697 upstr_intron -44 -0.6935484 TGACTTATTCAGTCTACATACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 70 114 1 1 1 NA NA 0.9944874 0.9996568 NA NA 0.005512619 0.0003432178 NA 0.9970721 NA 0.002927918 NA FALSE NA 0 -0.928 . intron_variant MODIFIER ZNF365 HGNC 18194 ENST00000410046 3/7 1 NA ACA C,T 8.252e-06 10:62459697 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 intron_variant 0.102805 0.18797 0.02697 0.053691 0.7351236 0.108993 3.621154e-05 FALSE NA ENSE00001589892_002 ENSE00001589892 002 10 64219438 64219607 + 62 57 51 A T 64219457 1123 20 TGACTTATTCAGTCTACACTCTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459697 62459698 62459698 upstr_intron -43 -0.6774194 TGACTTATTCAGTCTACACTCTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 488 25 0.9051027 0.9936205 0.9493616 NA NA 0.9944874 0.9996568 NA NA -0.08938472 -0.006036239 NA 0.9970721 NA -0.04771048 NA FALSE NA 0 -0.034 . intron_variant MODIFIER ZNF365 HGNC 18194 ENST00000410046 3/7 1 NA CAC A,T 8.251e-06 10:62459698 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 intron_variant -0.073962 0.21509 0.06312 0.053691 0.7350026 0.108993 3.621154e-05 FALSE 4.99575e-06 ENSE00001589892_003 ENSE00001589892 003 10 64219438 64219607 + 62 57 51 G C 64219479 1124 42 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCACTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459719 62459720 62459720 upstr_intron -21 -0.3225806 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCACTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 17 1488 1 0.9771955 0.9885978 NA NA 0.9944874 0.9996568 NA NA 0.005512619 -0.02246124 NA 0.9970721 NA -0.008474309 NA FALSE NA 0.005 0.737 . intron_variant MODIFIER ZNF365 HGNC 18194 ENST00000410046 3/7 1 NA AGT G,C 2.473e-05 10:62459720 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 intron_variant -0.130449 0.27129 0.06737 0.053691 0.5244155 0.192619 3.621154e-05 FALSE 8.90416e-06 ENSE00001589892_007 ENSE00001589892 007 10 64219438 64219607 + 62 57 51 G A 64219518 1128 81 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCAAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459758 62459759 62459759 exon 19 0.3333333 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCAAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 933 363 0.9563291 0.878053 0.9171911 NA NA 0.9944874 0.9996568 NA NA -0.03815829 -0.1216037 NA 0.9970721 NA -0.07988101 NA FALSE NA 0 0.144 rs112684479 missense_variant MODERATE ZNF365 HGNC 18194 ENST00000410046 4/8 rs112684479 1 tolerated_low_confidence(0.35) benign(0.023) NA A:0.0007 A:0.0001 CGA G,A 8.238e-05 10:62459759 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 missense_variant 1.438196 0.19883 0.05683 0.487112 0.9651636 0 3.621154e-05 FALSE 8.74002e-05 ENSE00001589892_008 ENSE00001589892 008 10 64219438 64219607 + 62 57 51 C A 64219522 1129 85 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGATCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459762 62459763 62459763 exon 23 0.4035088 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGATCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 103 472 1 0.9956189 0.9978094 NA NA 0.9944874 0.9996568 NA NA 0.005512619 -0.0040379 NA 0.9970721 NA 0.0007373592 NA FALSE NA 0 -0.666 . missense_variant MODERATE ZNF365 HGNC 18194 ENST00000410046 4/8 rs199638728 1 tolerated_low_confidence(0.27) benign(0.107) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GCT C,A 2.471e-05 10:62459763 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 missense_variant 0.227716 0.19795 0.06212 0.487112 0.8233367 0 3.621154e-05 FALSE 1.66373e-05 ENSE00001589892_010 ENSE00001589892 010 10 64219438 64219607 + 62 57 51 G A 64219525 1131 88 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCACCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459765 62459766 62459766 exon 26 0.4561404 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCACCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 32 82 0.9947395 1 0.9973697 NA NA 0.9944874 0.9996568 NA NA 0.0002521166 0.0003432178 NA 0.9970721 NA 0.0002976672 NA FALSE NA 0 -0.257 . missense_variant MODERATE ZNF365 HGNC 18194 ENST00000410046 4/8 COSM3807453&COSM3807452 1 tolerated_low_confidence(0.46) benign(0.002) NA CGC G,A 8.238e-06 10:62459766 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 missense_variant 2.152501 0.2014 0.05275 0.487112 0.9573465 0 3.621154e-05 FALSE NA ENSE00001589892_011 ENSE00001589892 011 10 64219438 64219607 + 62 57 51 C T 64219527 1132 90 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCTTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459767 62459768 62459768 exon 28 0.4912281 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCTTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 112 292 1 1 1 NA NA 0.9944874 0.9996568 NA NA 0.005512619 0.0003432178 NA 0.9970721 NA 0.002927918 NA FALSE NA 0 -0.246 rs150466479 synonymous_variant LOW ZNF365 HGNC 18194 ENST00000410046 4/8 rs150466479 1 NA T:0.0002 T:0.0008 CCT C,T 0.0002142 10:62459768 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 synonymous_variant 0.423617 0.2611 0.06222 0.487112 0.5446161 0 3.621154e-05 FALSE 0.000228696 ENSE00001589892_013 ENSE00001589892 013 10 64219438 64219607 + 62 57 51 T A 64219541 1134 104 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAAAGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459781 62459782 62459782 exon -16 0.7368421 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAAAGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 49 92 1 1 1 NA NA 0.9944874 0.9996568 NA NA 0.005512619 0.0003432178 NA 0.9970721 NA 0.002927918 NA FALSE NA 0 -0.362 . missense_variant MODERATE ZNF365 HGNC 18194 ENST00000410046 4/8 rs547125606 1 tolerated_low_confidence(0.06) benign(0.017) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ATG T,A 8.238e-06 10:62459782 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 missense_variant 1.010499 0.20073 0.07605 0.487112 0.7764917 0 3.621154e-05 FALSE 8.35324e-06 ENSE00001589892_014 ENSE00001589892 014 10 64219438 64219607 + 62 57 51 G A 64219548 1135 111 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGAAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459788 62459789 62459789 exon -9 0.8596491 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGAAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 432 59 0.94384 0.9682903 0.9560651 NA NA 0.9944874 0.9996568 NA NA -0.05064743 -0.0313665 NA 0.9970721 NA -0.04100696 NA FALSE NA 0.017 1.638 . missense_variant MODERATE ZNF365 HGNC 18194 ENST00000410046 4/8 1 tolerated_low_confidence(0.35) benign(0) NA GGA G,A 1.648e-05 10:62459789 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 missense_variant 2.851761 0.3423 0.19251 0.553676 0.993406 0 3.621154e-05 FALSE 3.35993e-05 ENSE00001589892_015 ENSE00001589892 015 10 64219438 64219607 + 62 57 51 T C 64219551 1136 114 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAACTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459791 62459792 62459792 exon -6 0.9122807 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAACTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 13 400 1 1 1 NA NA 0.9944874 0.9996568 NA NA 0.005512619 0.0003432178 NA 0.9970721 NA 0.002927918 NA FALSE NA 0 -0.636 . synonymous_variant LOW ZNF365 HGNC 18194 ENST00000410046 4/8 1 NA ATT T,C 8.239e-06 10:62459792 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 synonymous_variant -0.549283 0.23022 0.04985 0.553676 0.6296203 0 3.621154e-05 FALSE 8.42247e-06 ENSE00001589892_017 ENSE00001589892 017 10 64219438 64219607 + 62 57 51 G C 64219577 1138 140 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGCGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459817 62459818 62459818 downstr_intron 21 1.42 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGCGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 26 38 0.95 1 0.975 NA NA 0.9944874 0.9996568 NA NA -0.04448738 0.0003432178 NA 0.9970721 NA -0.02207208 NA FALSE NA 0.001 0.414 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:62459818 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 intron_variant -0.225617 0.17174 0.07276 0.053691 0.7016714 0.16589 3.621154e-05 FALSE 4.66366e-06 ENSE00001589892_018 ENSE00001589892 018 10 64219438 64219607 + 62 57 51 G T 64219577 1139 140 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGTGTGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459817 62459818 62459818 downstr_intron 21 1.42 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGTGTGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 83 41 0.9632541 1 0.981627 NA NA 0.9944874 0.9996568 NA NA -0.03123332 0.0003432178 NA 0.9970721 NA -0.01544505 NA FALSE NA 0.001 0.414 NA NA NA ZNF365 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF365 NA NA NA ENSG00000138311 ENSE00001589892 intron_variant -0.114896 0.17153 0.07051 0.053691 0.7688639 0.16589 3.621154e-05 FALSE 9.32731e-06 ENSE00001589892_021 ENSE00001589892 021 10 64219438 64219607 + 62 57 51 T G 64219579 1142 142 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGGGGGTTGGGCCTGGTTACAATAACCAGCA 62459678 62459848 62459819 62459820 62459820 downstr_intron 23 1.46 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGGGGGTTGGGCCTGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 27 621 0.9577081 0.958179 0.9579435 NA NA 0.9944874 0.9996568 NA NA -0.03677927 -0.0414778 NA 0.9970721 NA -0.03912854 NA FALSE NA 0 -0.223 . intron_variant MODIFIER ZNF365 HGNC 18194 ENST00000410046 4/7 1 NA GTG T,G 3.303e-05 10:62459820 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 intron_variant 0.426397 0.16771 0.0174 0.053691 0.6751865 0.165346 3.621154e-05 FALSE 1.86967e-05 ENSE00001589892_023 ENSE00001589892 023 10 64219438 64219607 + 62 57 51 T C 64219590 1144 153 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCCGGTTACAATAACCAGCA 62459678 62459848 62459830 62459831 62459831 downstr_intron 34 1.68 TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCCGGTTACAATAACCAGCA TGACTTATTCAGTCTACACACTAGCTCCATTCATGATGGCAGTACCCTTCTTTTCCTTTCAGAGCTGGAAAGGTGCTGGCGAAGCTCGCCTGGTGTGCCAAAATGACCTGGAATTGGAGGTAAAGCCACCACCTGGGTGGGTGGGTTGGGCCTGGTTACAATAACCAGCA mutant NA NA NA NA NA 31 28 1 1 1 NA NA 0.9944874 0.9996568 NA NA 0.005512619 0.0003432178 NA 0.9970721 NA 0.002927918 NA FALSE NA 0.001 0.352 . intron_variant MODIFIER ZNF365 HGNC 18194 ENST00000410046 4/7 1 NA CTG T,C 2.482e-05 10:62459831 ZNF365 HGNC Symbol protein_coding 297819 ENSG00000138311 ENSE00001589892 intron_variant 0.198212 0.21143 0.06424 0.053691 0.650839 0.111679 3.621154e-05 FALSE 2.52189e-05 ENSE00001591839_000 ENSE00001591839 000 12 53859647 53859816 + 69 42 59 NA NA NA NA NA TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 NA NA NA NA NA NA TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC natural 210 385 0.85 0.8213662 0.8356831 3554 3048 0.9219256 0.9346209 0.9282732 0.85 0.8213662 0.9219256 0.9346209 0 0 0 0 0.8356831 0.9282732 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003523658 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001591839_013 ENSE00001591839 013 12 53859647 53859816 + 69 42 59 T C 53859778 1887 132 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCCTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 53465993 53465994 53465994 downstr_intron 21 1.362069 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCCTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 363 425 0.8299275 0.9050424 0.867485 0.85 0.8213662 0.9219256 0.9346209 NA NA -0.09199806 -0.02957849 0.8356831 0.9282732 NA -0.06078827 NA FALSE NA 1 2.99 NA NA NA PCBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCBP2 NA NA NA ENSG00000197111 ENSE00003523658 intron_variant 1.714399 0.96547 0.89211 0.121938 0.8932362 0.795744 0.9870303 TRUE 4.06151e-06 ENSE00001591839_BRK ENSE00001591839 BRK 12 53859647 53859816 + 69 42 59 A,G; T,T NA NA NA TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTTTGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATCCAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 NA NA NA NA NA NA TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTTTGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATCCAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC control NA NA NA NA NA 69 141 0 0 0 0.85 0.8213662 0.9219256 0.9346209 NA NA -0.9219256 -0.9346209 0.8356831 0.9282732 NA -0.9282732 NA TRUE NA NA NA NA NA NA PCBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCBP2 NA NA NA ENSG00000197111 ENSE00003523658 NA NA NA NA NA NA NA 0.9870303 TRUE NA ENSE00001591943_000 ENSE00001591943 000 12 48373739 48373908 - 53 54 63 NA NA NA NA NA AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC 47979955 47980125 NA NA NA NA NA NA AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC natural 10 13 1 1 1 3108 1107 0.9486088 0.9925012 0.970555 1 1 0.9486088 0.9925012 0 0 0 0 1 0.970555 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003566920 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001591943_001 ENSE00001591943 001 12 48373739 48373908 - 53 54 63 G C 48373757 1030 152 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTGACAAAGAGGCCTGGCCCC 47979955 47980125 47979973 47979974 47979974 downstr_intron 35 1.673077 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTGACAAAGAGGCCTGGCCCC AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC mutant NA NA NA NA NA 100 46 0.9995877 1 0.9997939 1 1 0.9486088 0.9925012 NA NA 0.05097896 0.007498821 1 0.970555 NA 0.02923889 NA FALSE NA 0.001 0.599 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA TGA G,C 9.762e-06 12:47979974 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003566920 intron_variant -0.078556 0.19635 0.05877 0.084033 0.5820349 0.0476879 1 TRUE 6.93529e-06 ENSE00001591943_004 ENSE00001591943 004 12 48373739 48373908 - 53 54 63 C A 48373783 1033 126 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGATGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC 47979955 47980125 47979999 47980000 47980000 downstr_intron 9 1.173077 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGATGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC mutant NA NA NA NA NA 3144 2528 0.9986439 0.9990035 0.9988237 1 1 0.9486088 0.9925012 NA NA 0.05003514 0.006502345 1 0.970555 NA 0.02826874 NA FALSE NA 0.654 -0.225 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CCT C,A 9.275e-06 12:47980000 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003566920 intron_variant 2.054295 0.25141 0.08163 0.084033 0.7834249 0.255404 1 TRUE NA ENSE00001591943_005 ENSE00001591943 005 12 48373739 48373908 - 53 54 63 C T 48373792 1034 117 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCAGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC 47979955 47980125 47980008 47980009 47980009 exon -1 1 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCAGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC mutant NA NA NA NA NA 14 278 0.970149 0.9783908 0.9742699 1 1 0.9486088 0.9925012 NA NA 0.02154018 -0.01411036 1 0.970555 NA 0.00371491 NA FALSE NA 0.755 -0.087 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs369684691 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 T:0 T:0.0001 CCG C,T 1.835e-05 12:47980009 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003566920 splice_region_variant 2.090607 0.97979 0.46926 0.736574 0.7932571 0 1 TRUE NA ENSE00001591943_006 ENSE00001591943 006 12 48373739 48373908 - 53 54 63 G C 48373798 1035 111 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGGCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC 47979955 47980125 47980014 47980015 47980015 exon -7 0.8888889 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGGCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC mutant NA NA NA NA NA 84 50 1 1 1 1 1 0.9486088 0.9925012 NA NA 0.05139122 0.007498821 1 0.970555 NA 0.02944502 NA FALSE NA 0 -2.581 rs41272029 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs41272029 1 C:0.0300 C:0.0008 C:0 NA C:0.121 C:0.0219 C:0.0051 C:0.0019 C:0.0069 GGC G,C 0.009369 12:47980015 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003566920 synonymous_variant 0.464606 0.2432 0.13843 0.736574 0.6871239 0 1 TRUE 0.0205115 ENSE00001591943_007 ENSE00001591943 007 12 48373739 48373908 - 53 54 63 T A 48373816 1036 93 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGTGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC 47979955 47980125 47980032 47980033 47980033 exon -25 0.5555556 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGTGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC mutant NA NA NA NA NA 149 621 0.9865041 0.9980773 0.9922907 1 1 0.9486088 0.9925012 NA NA 0.03789531 0.005576126 1 0.970555 NA 0.02173572 NA FALSE NA 1 0.926 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CTC T,A 9.091e-06 12:47980033 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003566920 synonymous_variant 0.834282 0.97577 0.80002 0.615465 0.7625087 0 1 TRUE 6.45886e-06 ENSE00001591943_008 ENSE00001591943 008 12 48373739 48373908 - 53 54 63 G C 48373854 1037 55 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTGCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC 47979955 47980125 47980070 47980071 47980071 upstr_intron -9 -0.1269841 AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTGCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC AGACAGAAGCCCACCGTCTTCCTTGGGCCACTGGGCCTCACTGTCTCCCTCTTTCCTTTCCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGTGAGTGAGGCCTCTGACACCCCACCCTGCACCTCACAAAGAGGCCTGGCCCC mutant NA NA NA NA NA 861 250 0.9927867 0.9669882 0.9798875 1 1 0.9486088 0.9925012 NA NA 0.04417794 -0.02551299 1 0.970555 NA 0.009332478 NA FALSE NA 0 0.027 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs373598295 1 NA C:0 C:0.0001 GGA G,C 9.816e-06 12:47980071 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003566920 intron_variant -0.046488 0.27839 0.11314 0.053691 0.6196462 0.14772 1 TRUE 6.64593e-06 ENSE00001593543_000 ENSE00001593543 000 5 38338752 38338921 + 48 84 38 NA NA NA NA NA ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 NA NA NA NA NA NA ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG natural 47 51 0.990594 0.9790939 0.9848439 2476 1811 0.781053 0.8494499 0.8152514 0.990594 0.9790939 0.781053 0.8494499 0 0 0 0 0.9848439 0.8152514 0 0 0 FALSE FALSE NA NA NA NA NA EGFLAM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EGFLAM NA NA NA ENSG00000164318 ENSE00003524469 NA NA NA NA NA NA NA 9.384386e-10 FALSE NA ENSE00001593543_001 ENSE00001593543 001 5 38338752 38338921 + 48 84 38 G A 38338762 547 11 ACACAAGCACAGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338659 38338660 38338660 upstr_intron -38 -0.7708333 ACACAAGCACAGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 3069 718 0.9621008 0.9954183 0.9787596 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.1810478 0.1459685 0.9848439 0.8152514 NA 0.1635081 NA FALSE NA 0 -0.39 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 3/5 rs564517516 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGG G,A 2.471e-05 5:38338660 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.760093 0.5265 0.05373 0.061011 0.7893742 0.0604843 9.384386e-10 FALSE 1.62894e-05 ENSE00001593543_003 ENSE00001593543 003 5 38338752 38338921 + 48 84 38 T A 38338768 549 17 ACACAAGCACGGGCTCAGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338665 38338666 38338666 upstr_intron -32 -0.6458333 ACACAAGCACGGGCTCAGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 1060 663 0.9347085 0.9998276 0.9672681 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.1536556 0.1503777 0.9848439 0.8152514 NA 0.1520167 NA FALSE NA 0 0.216 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:38338666 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 1.62417 0.63501 0.15754 0.061011 0.8866315 0.0604843 9.384386e-10 FALSE 1.21961e-05 ENSE00001593543_004 ENSE00001593543 004 5 38338752 38338921 + 48 84 38 T G 38338768 550 17 ACACAAGCACGGGCTCGGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338665 38338666 38338666 upstr_intron -32 -0.6458333 ACACAAGCACGGGCTCGGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 237 105 0.9998262 1 0.9999131 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2187733 0.1505501 0.9848439 0.8152514 NA 0.1846617 NA FALSE NA 0 0.216 NA NA NA EGFLAM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EGFLAM NA NA NA ENSG00000164318 ENSE00003524469 intron_variant 1.470091 0.6379 0.16234 0.061011 0.788437 0.0604843 9.384386e-10 FALSE 1.21961e-05 ENSE00001593543_005 ENSE00001593543 005 5 38338752 38338921 + 48 84 38 G A 38338769 551 18 ACACAAGCACGGGCTCTACTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338666 38338667 38338667 upstr_intron -31 -0.625 ACACAAGCACGGGCTCTACTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 59 130 0.9214719 1 0.960736 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.140419 0.1505501 0.9848439 0.8152514 NA 0.1454846 NA FALSE NA 0 -0.447 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 3/5 1 NA TGC G,A 8.236e-06 5:38338667 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 1.546628 0.5324 0.05828 0.061011 0.8152243 0.104089 9.384386e-10 FALSE NA ENSE00001593543_006 ENSE00001593543 006 5 38338752 38338921 + 48 84 38 A C 38338778 552 27 ACACAAGCACGGGCTCTGCTCTCACCCGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338675 38338676 38338676 upstr_intron -22 -0.4375 ACACAAGCACGGGCTCTGCTCTCACCCGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 807 493 0.9969517 1 0.9984759 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2158988 0.1505501 0.9848439 0.8152514 NA 0.1832244 NA FALSE NA 0 -0.091 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 3/5 1 NA CAG A,C 8.236e-06 5:38338676 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.091884 0.52057 0.04598 0.061011 0.6797029 0.157881 9.384386e-10 FALSE 4.06369e-06 ENSE00001593543_007 ENSE00001593543 007 5 38338752 38338921 + 48 84 38 G T 38338780 553 29 ACACAAGCACGGGCTCTGCTCTCACCAGTGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338677 38338678 38338678 upstr_intron -20 -0.3958333 ACACAAGCACGGGCTCTGCTCTCACCAGTGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 2646 1077 0.9966538 1 0.9983269 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2156009 0.1505501 0.9848439 0.8152514 NA 0.1830755 NA FALSE NA 0 -0.482 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 3/5 1 NA GGG G,T 8.236e-06 5:38338678 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.562517 0.69346 0.18371 0.061011 0.7980308 0.153192 9.384386e-10 FALSE 4.06359e-06 ENSE00001593543_008 ENSE00001593543 008 5 38338752 38338921 + 48 84 38 G T 38338781 554 30 ACACAAGCACGGGCTCTGCTCTCACCAGGTTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338678 38338679 38338679 upstr_intron -19 -0.375 ACACAAGCACGGGCTCTGCTCTCACCAGGTTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 93 491 0.9931674 1 0.9965837 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2121144 0.1505501 0.9848439 0.8152514 NA 0.1813323 NA FALSE NA 0.001 1.771 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 3/5 1 NA GGT G,T 1.647e-05 5:38338679 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.619764 0.45985 0.19738 0.061011 0.7511774 0.102449 9.384386e-10 FALSE 8.12658e-06 ENSE00001593543_009 ENSE00001593543 009 5 38338752 38338921 + 48 84 38 C T 38338785 555 34 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTTTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338682 38338683 38338683 upstr_intron -15 -0.2916667 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTTTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 2096 733 0.9747259 0.9997322 0.987229 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.1936729 0.1502823 0.9848439 0.8152514 NA 0.1719776 NA FALSE NA 0.609 2.585 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 3/5 1 NA TCT C,T 8.236e-06 5:38338683 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 1.185881 0.8787 0.42128 0.061011 0.7866449 0.928747 9.384386e-10 FALSE 4.06227e-06 ENSE00001593543_010 ENSE00001593543 010 5 38338752 38338921 + 48 84 38 G A 38338787 556 36 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTACATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338684 38338685 38338685 upstr_intron -13 -0.25 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTACATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 75 1295 0.9700903 0.9941691 0.9821297 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.1890373 0.1447192 0.9848439 0.8152514 NA 0.1668782 NA FALSE NA 0 -0.277 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 3/5 rs576611976 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 4.942e-05 5:38338685 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.634969 0.54187 0.0651 0.061011 0.6920153 0.174899 9.384386e-10 FALSE 4.06279e-05 ENSE00001593543_011 ENSE00001593543 011 5 38338752 38338921 + 48 84 38 A G 38338789 557 38 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCGTCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338686 38338687 38338687 upstr_intron -11 -0.2083333 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCGTCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 310 347 0.8147664 0.8103165 0.8125415 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.03371343 -0.03913336 0.9848439 0.8152514 NA -0.002709962 NA FALSE NA 0 -0.944 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 3/5 1 NA CAT A,G 8.236e-06 5:38338687 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.652326 0.44399 0.03668 0.061011 0.5704182 0.17351 9.384386e-10 FALSE NA ENSE00001593543_013 ENSE00001593543 013 5 38338752 38338921 + 48 84 38 C T 38338820 559 69 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGTGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338717 38338718 38338718 exon 21 0.25 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGTGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 548 183 0.7984689 0.8041284 0.8012986 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.01741597 -0.04532152 0.9848439 0.8152514 NA -0.01395278 NA FALSE NA 0 -2.756 rs142461042 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 rs142461042&COSM3975530&COSM3975529 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0.0001 GCG C,T 4.942e-05 5:38338718 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 synonymous_variant 1.515226 0.50266 0.02384 0.487112 0.7854465 0 9.384386e-10 FALSE 4.06184e-05 ENSE00001593543_014 ENSE00001593543 014 5 38338752 38338921 + 48 84 38 G A 38338821 560 70 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCACAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338718 38338719 38338719 exon 22 0.2619048 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCACAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 349 13 0.8412811 0.9641358 0.9027084 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.06022811 0.114686 0.9848439 0.8152514 NA 0.08745704 NA FALSE NA 0 -0.087 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 rs201545200 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGC G,A 8.236e-05 5:38338719 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant 0.232676 0.54768 0.07857 0.487112 0.811143 0 9.384386e-10 FALSE 5.68639e-05 ENSE00001593543_015 ENSE00001593543 015 5 38338752 38338921 + 48 84 38 G A 38338824 561 73 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAAATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338721 38338722 38338722 exon 25 0.297619 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAAATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 677 837 0.8671763 0.9973655 0.9322709 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.0861233 0.1479156 0.9848439 0.8152514 NA 0.1170195 NA FALSE NA 0.787 2.469 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 1 NA AGA G,A 1.647e-05 5:38338722 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant 1.179686 0.97417 0.66387 0.487112 0.9884939 0 9.384386e-10 FALSE 8.12321e-06 ENSE00001593543_016 ENSE00001593543 016 5 38338752 38338921 + 48 84 38 G A 38338841 562 90 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAACAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338738 38338739 38338739 exon 42 0.5 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAACAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 125 1014 1 0.9992026 0.9996013 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 0.1497528 0.9848439 0.8152514 NA 0.1843499 NA FALSE NA 1 2.401 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 1 NA AGC G,A 8.236e-06 5:38338739 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 synonymous_variant 0.326684 0.98068 0.80281 0.487112 0.646504 0 9.384386e-10 FALSE 4.06157e-06 ENSE00001593543_017 ENSE00001593543 017 5 38338752 38338921 + 48 84 38 A G 38338843 563 92 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCGGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338740 38338741 38338741 exon -41 0.5238095 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCGGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 320 1228 1 0.8490844 0.9245422 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 -0.0003654785 0.9848439 0.8152514 NA 0.1092908 NA FALSE NA 0.125 -0.407 rs77586117 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 rs77586117 1 G:0.0118 G:0.0416 G:0.0058 NA G:0 G:0 G:0 G:0.0286 G:0.0001 CAG A,G 0.003196 5:38338741 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant -1.860993 0.64838 0.02633 0.487112 0.4039005 0 9.384386e-10 FALSE 0.00250599 ENSE00001593543_018 ENSE00001593543 018 5 38338752 38338921 + 48 84 38 G A 38338852 564 101 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAACGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338749 38338750 38338750 exon -32 0.6309524 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAACGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 813 568 0.9907817 0.9983672 0.9945745 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2097288 0.1489173 0.9848439 0.8152514 NA 0.1793231 NA FALSE NA 0 -0.232 rs141979824 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 rs141979824&COSM1717537&COSM1717536 1 NA A:0.0002 A:0 AGC G,A 1.647e-05 5:38338750 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant -0.988985 0.54488 0.03551 0.487112 0.6088258 0 9.384386e-10 FALSE 8.12407e-06 ENSE00001593543_019 ENSE00001593543 019 5 38338752 38338921 + 48 84 38 C T 38338853 565 102 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGTGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338750 38338751 38338751 exon -31 0.6428571 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGTGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 379 2122 0.9267554 0.9557715 0.9412635 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.1457024 0.1063217 0.9848439 0.8152514 NA 0.126012 NA FALSE NA 0.089 0.253 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 1 NA GCG C,T 1.647e-05 5:38338751 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 synonymous_variant 1.182869 0.4347 0.01409 0.487112 0.7573717 0 9.384386e-10 FALSE 2.03102e-05 ENSE00001593543_020 ENSE00001593543 020 5 38338752 38338921 + 48 84 38 G A 38338854 566 103 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCATGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338751 38338752 38338752 exon -30 0.6547619 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCATGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 92 2141 1 0.9970503 0.9985252 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 0.1476005 0.9848439 0.8152514 NA 0.1832738 NA FALSE NA 1 4.272 rs145835462 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 rs145835462 1 A:0.0012 A:0.003 A:0 NA A:0.002 A:0 A:0 A:0.002 A:0 CGT G,A 0.0002224 5:38338752 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant 5.146112 0.9898 0.89419 0.487112 0.9984394 0 9.384386e-10 FALSE 0.000186855 ENSE00001593543_021 ENSE00001593543 021 5 38338752 38338921 + 48 84 38 C T 38338866 567 115 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCTGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338763 38338764 38338764 exon -18 0.797619 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCTGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 584 338 0.992798 1 0.996399 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2117451 0.1505501 0.9848439 0.8152514 NA 0.1811476 NA FALSE NA 0.031 1.084 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 1 NA CCG C,T 8.236e-06 5:38338764 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant 2.505784 0.78239 0.18285 0.487112 0.9834087 0 9.384386e-10 FALSE 1.21881e-05 ENSE00001593543_023 ENSE00001593543 023 5 38338752 38338921 + 48 84 38 G T 38338869 569 118 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGTACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338766 38338767 38338767 exon -15 0.8333333 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGTACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 57 817 0.9973005 0.9945542 0.9959274 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2162476 0.1451043 0.9848439 0.8152514 NA 0.1806759 NA FALSE NA 0.998 2.52 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 1 NA GGA G,T 8.236e-06 5:38338767 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant 4.800485 0.96316 0.8468 0.487112 0.9883534 0 9.384386e-10 FALSE NA ENSE00001593543_024 ENSE00001593543 024 5 38338752 38338921 + 48 84 38 C T 38338874 570 123 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATTCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338771 38338772 38338772 exon -10 0.8928571 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATTCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 246 292 0.9008079 0.995442 0.948125 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.119755 0.1459921 0.9848439 0.8152514 NA 0.1328735 NA FALSE NA 0 -0.192 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 1 NA TCC C,T 8.236e-06 5:38338772 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 synonymous_variant 0.971733 0.48137 0.04657 0.487112 0.704273 0 9.384386e-10 FALSE 4.06263e-06 ENSE00001593543_025 ENSE00001593543 025 5 38338752 38338921 + 48 84 38 C G 38338876 571 125 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCGGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338773 38338774 38338774 exon -8 0.9166667 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCGGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 517 406 1 0.9948405 0.9974202 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 0.1453906 0.9848439 0.8152514 NA 0.1821688 NA FALSE NA 0 -0.194 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:38338774 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant 0.154265 0.48078 0.06567 0.487112 0.980745 0 9.384386e-10 FALSE 2.84423e-05 ENSE00001593543_026 ENSE00001593543 026 5 38338752 38338921 + 48 84 38 C T 38338876 572 125 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCTGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338773 38338774 38338774 exon -8 0.9166667 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCTGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 118 169 1 1 1 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 0.1505501 0.9848439 0.8152514 NA 0.1847486 NA FALSE NA 0 -0.194 NA NA NA EGFLAM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EGFLAM NA NA NA ENSG00000164318 ENSE00003524469 missense_variant -0.825538 0.40834 0.01285 0.487112 0.7102992 0 9.384386e-10 FALSE 1.62528e-05 ENSE00001593543_027 ENSE00001593543 027 5 38338752 38338921 + 48 84 38 G A 38338877 573 126 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCAACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338774 38338775 38338775 exon -7 0.9285714 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCAACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 245 545 0.8183065 0.9963573 0.9073319 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.03725359 0.1469074 0.9848439 0.8152514 NA 0.09208052 NA FALSE NA 0 -0.503 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/6 rs200341315 1 NA CGA G,A 2.471e-05 5:38338775 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 synonymous_variant 0.509519 0.4659 0.03979 0.487112 0.6131843 0 9.384386e-10 FALSE 3.25066e-05 ENSE00001593543_028 ENSE00001593543 028 5 38338752 38338921 + 48 84 38 C T 38338879 574 128 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGATCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338776 38338777 38338777 exon -5 0.952381 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGATCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 82 14 1 1 1 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 0.1505501 0.9848439 0.8152514 NA 0.1847486 NA FALSE NA 0 -0.101 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:38338777 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant 0.208554 0.48 0.03921 0.487112 0.8630224 0 9.384386e-10 FALSE 0.00136926 ENSE00001593543_029 ENSE00001593543 029 5 38338752 38338921 + 48 84 38 C G 38338879 575 128 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGAGCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338776 38338777 38338777 exon -5 0.952381 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGAGCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 781 127 0.9967407 1 0.9983703 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2156877 0.1505501 0.9848439 0.8152514 NA 0.1831189 NA FALSE NA 0 -0.101 NA NA NA EGFLAM NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EGFLAM NA NA NA ENSG00000164318 ENSE00003524469 missense_variant -0.727345 0.48936 0.05026 0.487112 0.5867231 0 9.384386e-10 FALSE 0.000178776 ENSE00001593543_030 ENSE00001593543 030 5 38338752 38338921 + 48 84 38 C T 38338882 576 131 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCATGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338779 38338780 38338780 exon -2 0.9880952 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCATGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 534 241 1 1 1 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 0.1505501 0.9848439 0.8152514 NA 0.1847486 NA FALSE NA 0 0.05 rs141310046 splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW EGFLAM HGNC 26810 ENST00000504709 4/6 rs141310046 1 NA T:0.0014 T:0 ACG C,T 9.884e-05 5:38338780 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 missense_variant 0.655971 0.49535 0.0379 0.487112 0.7670037 0 9.384386e-10 FALSE 7.72132e-05 ENSE00001593543_031 ENSE00001593543 031 5 38338752 38338921 + 48 84 38 C G 38338894 577 143 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTGCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338791 38338792 38338792 downstr_intron 11 1.297297 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTGCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 439 834 1 0.9995883 0.9997941 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 0.1501384 0.9848439 0.8152514 NA 0.1845427 NA FALSE NA 0.004 0.973 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/5 1 NA TCC C,G 8.236e-06 5:38338792 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.324354 0.51662 0.10021 0.061011 0.6272177 0.111251 9.384386e-10 FALSE 4.06547e-06 ENSE00001593543_032 ENSE00001593543 032 5 38338752 38338921 + 48 84 38 C T 38338895 578 144 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCTATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 38338792 38338793 38338793 downstr_intron 12 1.324324 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCTATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 338 1212 0.9970407 0.9909033 0.993972 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2159877 0.1414535 0.9848439 0.8152514 NA 0.1787206 NA FALSE NA 0.003 0.621 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/5 1 NA CCA C,T 5.765e-05 5:38338793 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.59981 0.59381 0.12063 0.061011 0.7184438 0.701752 9.384386e-10 FALSE 6.91226e-05 ENSE00001593543_033 ENSE00001593543 033 5 38338752 38338921 + 48 84 38 G A 38338901 579 150 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTAGCAGCCCACTCAAAAGCATG 38338649 38338819 38338798 38338799 38338799 downstr_intron 18 1.486486 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTAGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 331 197 0.9972322 1 0.9986161 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.2161792 0.1505501 0.9848439 0.8152514 NA 0.1833647 NA FALSE NA 0.011 1.33 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/5 rs369077468 1 NA TGG G,A 1.647e-05 5:38338799 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.250917 0.48332 0.15467 0.061011 0.6810378 0.0536054 9.384386e-10 FALSE 2.03421e-05 ENSE00001593543_034 ENSE00001593543 034 5 38338752 38338921 + 48 84 38 G A 38338902 580 151 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGACAGCCCACTCAAAAGCATG 38338649 38338819 38338799 38338800 38338800 downstr_intron 19 1.513514 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGACAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 96 415 0.9897039 0.9952431 0.9924735 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.208651 0.1457933 0.9848439 0.8152514 NA 0.1772221 NA FALSE NA 0.004 0.284 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/5 1 NA GGC G,A 8.236e-06 5:38338800 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant -0.255019 0.42058 0.07205 0.061011 0.7237391 0.0536054 9.384386e-10 FALSE 8.13835e-06 ENSE00001593543_035 ENSE00001593543 035 5 38338752 38338921 + 48 84 38 C T 38338910 581 159 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCATTCAAAAGCATG 38338649 38338819 38338807 38338808 38338808 downstr_intron 27 1.72973 ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCATTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG mutant NA NA NA NA NA 409 420 1 0.9999093 0.9999547 0.990594 0.9790939 0.781053 0.8494499 NA NA 0.218947 0.1504595 0.9848439 0.8152514 NA 0.1847033 NA FALSE NA 0 -0.026 . intron_variant&NMD_transcript_variant MODIFIER EGFLAM HGNC 26810 ENST00000504709 4/5 1 NA ACT C,T 8.236e-06 5:38338808 EGFLAM HGNC Symbol protein_coding 206612 ENSG00000164318 ENSE00003524469 intron_variant 0.895409 0.20658 0.03559 0.061011 0.8829901 0.0536054 9.384386e-10 FALSE 2.03739e-05 ENSE00001593543_BRK ENSE00001593543 BRK 5 38338752 38338921 + 48 84 38 A,G; T,T NA NA NA ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCATTGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGCCGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG 38338649 38338819 NA NA NA NA NA NA ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCATTGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGCCGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG ACACAAGCACGGGCTCTGCTCTCACCAGGGTGTCTGCATCTTTTCAAGGTCTTTTACTCTGAGGTTGGCGCAGATAAATCCCTGCAGGAGCAGTTGCACAGCGTGCCTCTCAGCCGGGACATCCCGACCACGGTGAGTCTTTCCATCCTGGCAGCCCACTCAAAAGCATG control 255 291 0 0 0 944 333 0 0.001519877 0.0007599387 0.990594 0.9790939 0.781053 0.8494499 -0.990594 -0.9790939 -0.781053 -0.84793 0.9848439 0.8152514 -0.9848439 -0.8144915 0.1703525 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EGFLAM NA NA NA ENSG00000164318 ENSE00003524469 NA NA NA NA NA NA NA 9.384386e-10 FALSE NA ENSE00001593922_000 ENSE00001593922 000 4 141870411 141870580 - 44 72 54 NA NA NA NA NA TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGCGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 NA NA NA NA NA NA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA natural 85 38 0.9259438 0.9913919 0.9586678 3634 4842 0.9891852 0.9896824 0.9894338 0.9259438 0.9913919 0.9891852 0.9896824 0 0 0 0 0.9586678 0.9894338 0 0 0 FALSE FALSE NA NA NA NA NA RNF150 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF150 NA NA NA ENSG00000170153 ENSE00003574389 NA NA NA NA NA NA NA 0.01368975 FALSE NA ENSE00001593922_002 ENSE00001593922 002 4 141870411 141870580 - 44 72 54 C T 141870429 1573 152 TCTTTGAATAGCTCCTCATCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGCGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949274 140949275 140949275 downstr_intron 26 1.604651 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGATGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 191 902 0.8882481 1 0.9441241 0.9259438 0.9913919 0.9891852 0.9896824 NA NA -0.1009371 0.01031762 0.9586678 0.9894338 NA -0.04530975 NA FALSE NA 0 -1.383 . intron_variant MODIFIER RNF150 HGNC 23138 ENST00000379512 3/6 rs552016200 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACC C,T 8.236e-06 4:140949275 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 intron_variant 0.145742 0.12514 0.01223 0.053691 0.4690305 0.116125 0.01368975 FALSE 4.20755e-06 ENSE00001593922_004 ENSE00001593922 004 4 141870411 141870580 - 44 72 54 T C 141870449 1575 132 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCCATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGCGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949294 140949295 140949295 downstr_intron 6 1.139535 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATGGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 80 61 0.9810877 1 0.9905439 0.9259438 0.9913919 0.9891852 0.9896824 NA NA -0.008097502 0.01031762 0.9586678 0.9894338 NA 0.00111006 NA FALSE NA 0.292 0.478 . splice_region_variant&intron_variant LOW RNF150 HGNC 23138 ENST00000379512 3/6 1 NA CTA T,C 8.236e-06 4:140949295 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 splice_region_variant 0.276895 0.24547 0.12451 0.053691 0.5834704 0.199723 0.01368975 FALSE NA ENSE00001593922_005 ENSE00001593922 005 4 141870411 141870580 - 44 72 54 C T 141870460 1576 121 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTTACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGCGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949305 140949306 140949306 exon -6 0.9305556 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTAACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 638 135 0.9994546 1 0.9997273 0.9259438 0.9913919 0.9891852 0.9896824 NA NA 0.01026936 0.01031762 0.9586678 0.9894338 NA 0.01029349 NA FALSE NA 1 6.977 . missense_variant MODERATE RNF150 HGNC 23138 ENST00000379512 3/7 1 deleterious(0.03) probably_damaging(0.946) NA TCA C,T 8.236e-06 4:140949306 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 missense_variant 7.174404 0.99523 0.97731 0.615465 0.9993453 0 0.01368975 FALSE NA ENSE00001593922_006 ENSE00001593922 006 4 141870411 141870580 - 44 72 54 C G 141870464 1577 117 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCGTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGCGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949309 140949310 140949310 exon -10 0.875 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAACGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 144 357 0.9880815 0.9942569 0.9911692 0.9259438 0.9913919 0.9891852 0.9896824 NA NA -0.001103731 0.004574538 0.9586678 0.9894338 NA 0.001735403 NA FALSE NA 1 0.852 . missense_variant MODERATE RNF150 HGNC 23138 ENST00000379512 3/7 1 tolerated(0.08) possibly_damaging(0.628) NA CCT C,G 8.236e-06 4:140949310 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 missense_variant 6.172443 0.98201 0.84628 0.615465 0.9972053 0 0.01368975 FALSE 4.08e-06 ENSE00001593922_009 ENSE00001593922 009 4 141870411 141870580 - 44 72 54 C T 141870508 1580 73 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGTTGCATCCCCCAGTCGGCGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949353 140949354 140949354 exon 19 0.2638889 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAACAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 97 993 1 0.9987641 0.999382 0.9259438 0.9913919 0.9891852 0.9896824 NA NA 0.01081478 0.009081711 0.9586678 0.9894338 NA 0.009948247 NA FALSE NA 1 6.977 . missense_variant MODERATE RNF150 HGNC 23138 ENST00000379512 3/7 COSM1739034&COSM1739035&COSM1739033 1 tolerated(0.06) benign(0.336) NA GCT C,T 8.236e-06 4:140949354 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 missense_variant 4.387417 0.99523 0.97731 0.615465 0.9988367 0 0.01368975 FALSE 4.07246e-06 ENSE00001593922_012 ENSE00001593922 012 4 141870411 141870580 - 44 72 54 G A 141870523 1583 58 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCAGCGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949368 140949369 140949369 exon 4 0.05555556 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCTGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 13 31 0.9545969 1 0.9772985 0.9259438 0.9913919 0.9891852 0.9896824 NA NA -0.03458827 0.01031762 0.9586678 0.9894338 NA -0.01213532 NA FALSE NA 1 5.497 . stop_gained HIGH RNF150 HGNC 23138 ENST00000379512 3/7 1 NA HC CGG G,A 8.236e-06 4:140949369 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 stop_gained 13.55817 0.98775 0.94699 0.615465 0.9983701 0 0.01368975 FALSE NA ENSE00001593922_013 ENSE00001593922 013 4 141870411 141870580 - 44 72 54 C T 141870525 1584 56 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGTGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949370 140949371 140949371 exon 2 0.02777778 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCACCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 61 172 1 0.9997784 0.9998892 0.9259438 0.9913919 0.9891852 0.9896824 NA NA 0.01081478 0.01009605 0.9586678 0.9894338 NA 0.01045542 NA FALSE NA 1 6.977 . missense_variant&splice_region_variant MODERATE RNF150 HGNC 23138 ENST00000379512 3/7 rs373846181&COSM3696463&COSM3696464&COSM3696462 1 deleterious(0.01) probably_damaging(0.972) NA T:0 T:0.0001 GCG C,T 1.647e-05 4:140949371 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 missense_variant 7.783174 0.99523 0.97731 0.615465 0.9993429 0 0.01368975 FALSE 3.26219e-05 ENSE00001593922_014 ENSE00001593922 014 4 141870411 141870580 - 44 72 54 G A 141870526 1585 55 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGCACTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949371 140949372 140949372 exon 1 0.01388889 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGTGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 635 83 0.8577094 0.9995402 0.9286248 0.9259438 0.9913919 0.9891852 0.9896824 NA NA -0.1314758 0.009857785 0.9586678 0.9894338 NA -0.06080901 NA FALSE NA 1 4.027 . missense_variant&splice_region_variant MODERATE RNF150 HGNC 23138 ENST00000379512 3/7 COSM3392709&COSM3392710&COSM3392708 1 deleterious(0) probably_damaging(0.972) NA CGC G,A 8.236e-06 4:140949372 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 missense_variant 7.477851 0.99016 0.90511 0.615465 0.9994612 0 0.01368975 FALSE 1.63119e-05 ENSE00001593922_016 ENSE00001593922 016 4 141870411 141870580 - 44 72 54 G C 141870544 1587 37 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGCGCTGAAAAGCCAAAACGTCCTTGTTAATAATAAAGATCTGTAATTCTTGACTTCA 140949256 140949426 140949389 140949390 140949390 upstr_intron -18 -0.3148148 TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGGACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 491 348 1 0.9955022 0.9977511 0.9259438 0.9913919 0.9891852 0.9896824 NA NA 0.01081478 0.005819803 0.9586678 0.9894338 NA 0.008317293 NA FALSE NA 0 0.347 rs146714448 intron_variant MODIFIER RNF150 HGNC 23138 ENST00000379512 2/6 rs146714448 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TGC G,C 1.647e-05 4:140949390 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 intron_variant -0.522842 0.1892 0.06014 0.053691 0.36312 0.117477 0.01368975 FALSE 8.16267e-06 ENSE00001593922_017 ENSE00001593922 017 4 141870411 141870580 - 44 72 54 T C 141870566 1588 15 TCTTTGAATAGCTCCTCACCAAAAAGAAAAGAGGCTGCTATTACCTTGTCACCCTTCTTGATGGTCCTGATCTGGAGTTTGCTGATGGCTTTCTTTGCTGCATCCCCCAGTCGGCGCTGAAAAGCCAAAACGTGCTTGTTAATAATAAAGATCTGCAATTCTTGACTTCA 140949256 140949426 140949411 140949412 140949412 upstr_intron -40 -0.7222222 TGAAGTCAAGAATTGCAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA TGAAGTCAAGAATTACAGATCTTTATTATTAACAAGCACGTTTTGGCTTTTCAGCGCCGACTGGGGGATGCAGCAAAGAAAGCCATCAGCAAACTCCAGATCAGGACCATCAAGAAGGGTGACAAGGTAATAGCAGCCTCTTTTCTTTTTGGTGAGGAGCTATTCAAAGA mutant NA NA NA NA NA 849 306 0.9999515 0.9994828 0.9997172 0.9259438 0.9913919 0.9891852 0.9896824 NA NA 0.0107663 0.009800433 0.9586678 0.9894338 NA 0.01028337 NA FALSE NA 0 -0.276 . intron_variant MODIFIER RNF150 HGNC 23138 ENST00000379512 2/6 1 NA GTA T,C 8.236e-06 4:140949412 RNF150 HGNC Symbol protein_coding 353070 ENSG00000170153 ENSE00003574389 intron_variant 0.014757 0.19084 0.03534 0.053691 0.2779569 0.117477 0.01368975 FALSE 1.64509e-05 ENSE00001594034_000 ENSE00001594034 000 1 114254333 114254502 - 35 90 45 NA NA NA NA NA CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 NA NA NA NA NA NA CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT natural 114 45 0.9741197 0.9877778 0.9809488 10130 10738 0.9223138 0.9647704 0.9435421 0.9741197 0.9877778 0.9223138 0.9647704 0 0 0 0 0.9809488 0.9435421 0 0 0 FALSE FALSE NA NA NA NA NA PHTF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHTF1 NA NA NA ENSG00000116793 ENSE00003466622 NA NA NA NA NA NA NA 5.474649e-18 FALSE NA ENSE00001594034_001 ENSE00001594034 001 1 114254333 114254502 - 35 90 45 C T 114254362 3099 141 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAATATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711739 113711740 113711740 downstr_intron 6 1.176471 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAATATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 312 2031 0.001570192 0.005957464 0.003763828 0.9741197 0.9877778 0.9223138 0.9647704 NA NA -0.9207436 -0.9588129 0.9809488 0.9435421 NA -0.9397783 NA TRUE NA 0.001 1.121 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PHTF1 HGNC 8939 ENST00000474926 3/11 1 NA ACT C,T 2.471e-05 1:113711740 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 splice_region_variant 0.94127 0.31155 0.02566 0.295142 0.5640437 0.764118 5.474649e-18 FALSE 1.22003e-05 ENSE00001594034_002 ENSE00001594034 002 1 114254333 114254502 - 35 90 45 T A 114254369 3100 134 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCTGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711746 113711747 113711747 exon -2 0.9888889 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCTGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant 116 158 0 0.1247212 0.0623606 1278 1034 0.06333891 0.04904257 0.05619074 0.9741197 0.9877778 0.9223138 0.9647704 -0.9741197 -0.8630566 -0.8589749 -0.9157278 0.9809488 0.9435421 -0.9185882 -0.8873513 0.03123681 TRUE TRUE 1 4.778 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PHTF1 HGNC 8939 ENST00000474926 3/12 1 NA CTG T,A 8.236e-06 1:113711747 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 missense_variant 4.829296 0.98366 0.95769 0.706298 0.9949448 0 5.474649e-18 FALSE 4.06336e-06 ENSE00001594034_003 ENSE00001594034 003 1 114254333 114254502 - 35 90 45 G A 114254370 3101 133 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCTAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711747 113711748 113711748 exon -3 0.9777778 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCTAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 31 84 0.03263024 0 0.01631512 0.9741197 0.9877778 0.9223138 0.9647704 NA NA -0.8896835 -0.9647704 0.9809488 0.9435421 NA -0.927227 NA TRUE NA 1 5.912 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PHTF1 HGNC 8939 ENST00000474926 3/12 1 NA TGG G,A 8.236e-06 1:113711748 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 stop_gained 11.29266 0.97772 0.9574 0.706298 0.9980892 0 5.474649e-18 FALSE 4.06309e-06 ENSE00001594034_004 ENSE00001594034 004 1 114254333 114254502 - 35 90 45 G T 114254378 3102 125 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGACTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711755 113711756 113711756 exon -11 0.8888889 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGACTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 385 42 0.188123 0.03406711 0.1110951 0.9741197 0.9877778 0.9223138 0.9647704 NA NA -0.7341907 -0.9307033 0.9809488 0.9435421 NA -0.832447 NA TRUE NA 0.582 0.339 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 3/12 1 NA GGC G,T 8.236e-06 1:113711756 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 missense_variant 1.113201 0.94329 0.65922 0.706298 0.9284696 0 5.474649e-18 FALSE NA ENSE00001594034_005 ENSE00001594034 005 1 114254333 114254502 - 35 90 45 C T 114254379 3103 124 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAACCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711756 113711757 113711757 exon -12 0.8777778 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAACCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 891 470 0.9671864 0.9880849 0.9776357 0.9741197 0.9877778 0.9223138 0.9647704 NA NA 0.04487263 0.02331451 0.9809488 0.9435421 NA 0.03409357 NA FALSE NA 0.559 1.253 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 3/12 1 NA GCT C,T 8.236e-06 1:113711757 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 missense_variant 2.197515 0.95797 0.6185 0.706298 0.9780372 0 5.474649e-18 FALSE 4.0624e-06 ENSE00001594034_006 ENSE00001594034 006 1 114254333 114254502 - 35 90 45 G A 114254396 3104 107 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATTAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711773 113711774 113711774 exon -29 0.6888889 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATTAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant 42 31 0.85 0.85 0.85 969 312 0.8214045 0.8662807 0.8438426 0.9741197 0.9877778 0.9223138 0.9647704 -0.1241197 -0.1377778 -0.1009092 -0.09848967 0.9809488 0.9435421 -0.1309488 -0.09969944 0.03124932 FALSE FALSE 1 6.155 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:113711774 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 missense_variant 5.064703 0.98637 0.9725 0.706298 0.9989557 0 5.474649e-18 FALSE 4.0624e-06 ENSE00001594034_007 ENSE00001594034 007 1 114254333 114254502 - 35 90 45 G C 114254396 3105 107 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATGAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711773 113711774 113711774 exon -29 0.6888889 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATGAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 26 27 0.8 0.900581 0.8502905 0.9741197 0.9877778 0.9223138 0.9647704 NA NA -0.1223138 -0.06418943 0.9809488 0.9435421 NA -0.09325159 NA FALSE NA 1 6.155 NA NA NA PHTF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHTF1 NA NA NA ENSG00000116793 ENSE00003466622 stop_gained 12.37643 0.98697 0.97796 0.706298 0.9932405 0 5.474649e-18 FALSE 8.1248e-06 ENSE00001594034_008 ENSE00001594034 008 1 114254333 114254502 - 35 90 45 G T 114254402 3106 101 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGATGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711779 113711780 113711780 exon -35 0.6222222 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGATGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 45 708 0.9555956 0.9986448 0.9771202 0.9741197 0.9877778 0.9223138 0.9647704 NA NA 0.03328186 0.03387435 0.9809488 0.9435421 NA 0.03357811 NA FALSE NA 0.071 0.767 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 3/12 1 NA AGC G,T 8.236e-06 1:113711780 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 missense_variant 2.288412 0.9736 0.43623 0.732398 0.9936148 0 5.474649e-18 FALSE 4.0624e-06 ENSE00001594034_009 ENSE00001594034 009 1 114254333 114254502 - 35 90 45 C T 114254420 3107 83 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCAGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711797 113711798 113711798 exon 38 0.4222222 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCAGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant 92 130 0.85 0.85 0.85 566 163 0.8524662 0.8723608 0.8624135 0.9741197 0.9877778 0.9223138 0.9647704 -0.1241197 -0.1377778 -0.0698476 -0.0924096 0.9809488 0.9435421 -0.1309488 -0.0811286 0.04982016 FALSE FALSE 1 3.327 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 3/12 COSM2120314 1 NA CCG C,T 2.471e-05 1:113711798 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 missense_variant 3.486138 0.97663 0.88432 0.732398 0.997624 0 5.474649e-18 FALSE 2.03117e-05 ENSE00001594034_010 ENSE00001594034 010 1 114254333 114254502 - 35 90 45 G A 114254421 3108 82 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGTGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711798 113711799 113711799 exon 37 0.4111111 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGTGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant 80 99 0.8431179 0.85 0.8465589 1988 1698 0.7931627 0.8853564 0.8392596 0.9741197 0.9877778 0.9223138 0.9647704 -0.1310018 -0.1377778 -0.1291511 -0.07941399 0.9809488 0.9435421 -0.1343898 -0.1042825 0.03010729 FALSE FALSE 1 4.625 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 3/12 1 NA CGC G,A 7.413e-05 1:113711799 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 missense_variant 6.957768 0.97284 0.94255 0.732398 0.9988406 0 5.474649e-18 FALSE 7.7195e-05 ENSE00001594034_014 ENSE00001594034 014 1 114254333 114254502 - 35 90 45 T C 114254445 3112 58 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCGCTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711822 113711823 113711823 exon 13 0.1444444 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCGCTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 6197 1743 0.9987317 0.9556444 0.977188 0.9741197 0.9877778 0.9223138 0.9647704 NA NA 0.07641795 -0.009126045 0.9809488 0.9435421 NA 0.03364595 NA FALSE NA 0.967 0.071 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 3/12 1 NA GTG T,C 7.413e-05 1:113711823 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 missense_variant -1.163701 0.43689 0.50798 0.732398 0.9188042 0 5.474649e-18 FALSE 8.15135e-05 ENSE00001594034_016 ENSE00001594034 016 1 114254333 114254502 - 35 90 45 T C 114254449 3114 54 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAGACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711826 113711827 113711827 exon 9 0.1 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAGACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 1289 696 0.9985703 0.9996712 0.9991208 0.9741197 0.9877778 0.9223138 0.9647704 NA NA 0.07625656 0.03490084 0.9809488 0.9435421 NA 0.0555787 NA FALSE NA 1 0.347 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 3/12 1 NA TTT T,C 4.118e-05 1:113711827 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 synonymous_variant -0.077029 0.95553 0.78732 0.732398 0.4951719 0 5.474649e-18 FALSE 6.5029e-05 ENSE00001594034_017 ENSE00001594034 017 1 114254333 114254502 - 35 90 45 C T 114254462 3115 41 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTAGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711839 113711840 113711840 upstr_intron -5 -0.08888889 CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTAGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 2337 314 0.8125443 0.7944612 0.8035028 0.9741197 0.9877778 0.9223138 0.9647704 NA NA -0.1097695 -0.1703092 0.9809488 0.9435421 NA -0.1400393 NA FALSE NA 0.198 0.527 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PHTF1 HGNC 8939 ENST00000474926 2/11 1 NA CCA C,T 1.647e-05 1:113711840 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 splice_region_variant 1.394454 0.85797 0.18632 0.163922 0.6378886 0.369435 5.474649e-18 FALSE 2.43902e-05 ENSE00001594034_018 ENSE00001594034 018 1 114254333 114254502 - 35 90 45 C A 114254473 3116 30 CATTTAACATATTTTCCTATTGCTTGTTGTTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711850 113711851 113711851 upstr_intron -16 -0.3333333 CATTTAACATATTTTCCTATTGCTTGTTGTTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant 30 70 0.85 0.9199001 0.88495 2107 1583 0.7877099 0.9814776 0.8845938 0.9741197 0.9877778 0.9223138 0.9647704 -0.1241197 -0.06787773 -0.1346039 0.01670722 0.9809488 0.9435421 -0.09599873 -0.05894832 0.0370504 FALSE FALSE 0.004 0.041 . intron_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 2/11 1 NA ACC C,A 8.236e-06 1:113711851 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 intron_variant 1.159959 0.94088 0.16462 0.106106 0.4664368 0.468594 5.474649e-18 FALSE 4.06517e-06 ENSE00001594034_019 ENSE00001594034 019 1 114254333 114254502 - 35 90 45 G C 114254486 3117 17 CATTTAACATATTTTCGTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 113711863 113711864 113711864 upstr_intron -29 -0.6222222 CATTTAACATATTTTCGTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT mutant NA NA NA NA NA 904 1142 0.9760786 0.9997229 0.9879008 0.9741197 0.9877778 0.9223138 0.9647704 NA NA 0.05376483 0.03495251 0.9809488 0.9435421 NA 0.04435867 NA FALSE NA 0 0.593 . intron_variant&non_coding_transcript_variant MODIFIER PHTF1 HGNC 8939 ENST00000474926 2/11 1 NA AGG G,C 3.295e-05 1:113711864 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003466622 intron_variant -0.407575 0.22312 0.17708 0.106106 0.459236 0.119757 5.474649e-18 FALSE 2.84692e-05 ENSE00001594034_BRK ENSE00001594034 BRK 1 114254333 114254502 - 35 90 45 A,G; T,T NA NA NA CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCTTGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGCCAAAGTATCCCTTTGAGAAATCAAGGTATATTTT 113711710 113711880 NA NA NA NA NA NA CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCTTGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGCCAAAGTATCCCTTTGAGAAATCAAGGTATATTTT CATTTAACATATTTTCCTATTGCTTGTTGGTTTGATTTTTGGCAGGTAAAGAAAACCACTACAAGGTGGTGTCATATTGTGCGGGATTCAGATAGTCTGGCTGAATCAGAATTTGAATCAGCAGCCTTCAGCCAGGTAAAGTATCCCTTTGAGAAATCAAGGTATATTTT control 132 68 0 0 0 4093 838 0.02899734 0.0007640987 0.01488072 0.9741197 0.9877778 0.9223138 0.9647704 -0.9741197 -0.9877778 -0.8933164 -0.9640063 0.9809488 0.9435421 -0.9809488 -0.9286614 0.05228739 TRUE TRUE NA NA NA NA NA PHTF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHTF1 NA NA NA ENSG00000116793 ENSE00003466622 NA NA NA NA NA NA NA 5.474649e-18 FALSE NA ENSE00001594092_000 ENSE00001594092 000 4 109765621 109765790 - 54 51 65 NA NA NA NA NA ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 NA NA NA NA NA NA ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG natural 27 17 0.9313283 1 0.9656641 1746 3172 0.8793121 0.9213279 0.90032 0.9313283 1 0.8793121 0.9213279 0 0 0 0 0.9656641 0.90032 0 0 0 FALSE FALSE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00003659602 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001594092_001 ENSE00001594092 001 4 109765621 109765790 - 54 51 65 A T 109765638 1102 153 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATATATGAGCATGCTGCTAG 108844464 108844634 108844481 108844482 108844482 downstr_intron 37 1.698113 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATATATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 2668 1082 0.8634384 0.9968526 0.9301455 0.9313283 1 0.8793121 0.9213279 NA NA -0.01587362 0.07552468 0.9656641 0.90032 NA 0.02982553 NA FALSE NA 0.012 0.156 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 27/32 1 NA AAA A,T 8.277e-06 4:108844482 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 intron_variant 0.339899 0.21189 0.04847 0.061011 0.8004539 0.0821837 7.11572e-08 FALSE 4.08373e-06 ENSE00001594092_002 ENSE00001594092 002 4 109765621 109765790 - 54 51 65 A G 109765639 1103 152 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTACTTATGAGCATGCTGCTAG 108844464 108844634 108844482 108844483 108844483 downstr_intron 36 1.679245 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTACTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 217 113 0.9073054 1 0.9536527 0.9313283 1 0.8793121 0.9213279 NA NA 0.02799335 0.07867207 0.9656641 0.90032 NA 0.05333271 NA FALSE NA 0.032 1.225 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 27/32 1 NA AAT A,G 8.277e-06 4:108844483 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 intron_variant 0.541237 0.3212 0.06034 0.061011 0.8546344 0.0821837 7.11572e-08 FALSE 4.08277e-06 ENSE00001594092_004 ENSE00001594092 004 4 109765621 109765790 - 54 51 65 G A 109765661 1105 130 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTTTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844504 108844505 108844505 downstr_intron 14 1.264151 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTTTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 292 978 1 0.9979106 0.9989553 0.9313283 1 0.8793121 0.9213279 NA NA 0.1206879 0.07658265 0.9656641 0.90032 NA 0.0986353 NA FALSE NA 0 -0.251 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 27/32 1 NA AGA G,A 8.278e-06 4:108844505 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 intron_variant -0.092929 0.16244 0.0156 0.061011 0.3565565 0.0821837 7.11572e-08 FALSE 4.07674e-06 ENSE00001594092_005 ENSE00001594092 005 4 109765621 109765790 - 54 51 65 A G 109765663 1106 128 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCCTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844506 108844507 108844507 downstr_intron 12 1.226415 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCCTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 886 160 0.9944025 1 0.9972012 0.9313283 1 0.8793121 0.9213279 NA NA 0.1150904 0.07867207 0.9656641 0.90032 NA 0.09688125 NA FALSE NA 0 0.01 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 27/32 1 NA AAG A,G 8.278e-06 4:108844507 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 intron_variant 0.817109 0.20667 0.0269 0.061011 0.8033865 0.188925 7.11572e-08 FALSE 4.07611e-06 ENSE00001594092_006 ENSE00001594092 006 4 109765621 109765790 - 54 51 65 A T 109765667 1107 124 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTACCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844510 108844511 108844511 downstr_intron 8 1.150943 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTACCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 386 504 1 0.977044 0.988522 0.9313283 1 0.8793121 0.9213279 NA NA 0.1206879 0.05571612 0.9656641 0.90032 NA 0.08820203 NA FALSE NA 0.066 0.279 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 27/32 1 NA GAA A,T 8.278e-06 4:108844511 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 splice_region_variant 0.803205 0.44136 0.04362 0.061011 0.7815543 0.188925 7.11572e-08 FALSE 4.07544e-06 ENSE00001594092_007 ENSE00001594092 007 4 109765621 109765790 - 54 51 65 G A 109765686 1108 105 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCATCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844529 108844530 108844530 exon -12 0.7843137 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCATCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 1304 548 0.8680558 1 0.9340279 0.9313283 1 0.8793121 0.9213279 NA NA -0.01125625 0.07867207 0.9656641 0.90032 NA 0.03370791 NA FALSE NA 1 4.489 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 27/33 1 unknown(0) NA GGT G,A 8.278e-06 4:108844530 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 missense_variant 4.560343 0.97427 0.84789 0.553676 0.994965 0 7.11572e-08 FALSE 4.07538e-06 ENSE00001594092_008 ENSE00001594092 008 4 109765621 109765790 - 54 51 65 G T 109765688 1109 103 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCAACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844531 108844532 108844532 exon -14 0.745098 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCAACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 375 931 1 0.9977852 0.9988926 0.9313283 1 0.8793121 0.9213279 NA NA 0.1206879 0.07645726 0.9656641 0.90032 NA 0.0985726 NA FALSE NA 1 4.489 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 27/33 1 unknown(0) NA TGG G,T 8.279e-06 4:108844532 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 missense_variant 3.365378 0.98362 0.88897 0.553676 0.9851847 0 7.11572e-08 FALSE 4.07701e-06 ENSE00001594092_009 ENSE00001594092 009 4 109765621 109765790 - 54 51 65 G T 109765689 1110 102 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCACACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844532 108844533 108844533 exon -15 0.7254902 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCACACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 590 121 0.9868245 1 0.9934122 0.9313283 1 0.8793121 0.9213279 NA NA 0.1075124 0.07867207 0.9656641 0.90032 NA 0.09309225 NA FALSE NA 1 4.489 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 27/33 1 unknown(0) NA GGG G,T 8.279e-06 4:108844533 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 missense_variant 2.648769 0.98362 0.88897 0.553676 0.989768 0 7.11572e-08 FALSE 4.07807e-06 ENSE00001594092_011 ENSE00001594092 011 4 109765621 109765790 - 54 51 65 G T 109765703 1112 88 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACAAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844546 108844547 108844547 exon 23 0.4509804 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACAAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 277 775 1 0.9985688 0.9992844 0.9313283 1 0.8793121 0.9213279 NA NA 0.1206879 0.0772409 0.9656641 0.90032 NA 0.09896442 NA FALSE NA 1 4.489 rs185940527 missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 27/33 rs185940527 1 unknown(0) T:0.0012 T:0 T:0.0086 NA T:0 T:0 T:0 TGG G,T 4.139e-05 4:108844547 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 missense_variant 4.74248 0.98362 0.88897 0.553676 0.9828373 0 7.11572e-08 FALSE 2.45216e-05 ENSE00001594092_012 ENSE00001594092 012 4 109765621 109765790 - 54 51 65 T C 109765705 1113 86 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCGCCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844548 108844549 108844549 exon 21 0.4117647 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCGCCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 701 298 0.9983445 0.9929245 0.9956345 0.9313283 1 0.8793121 0.9213279 NA NA 0.1190325 0.07159652 0.9656641 0.90032 NA 0.09531449 NA FALSE NA 0.974 -0.349 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 27/33 1 NA GTG T,C 8.279e-06 4:108844549 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 missense_variant 0.681004 0.95241 0.42901 0.553676 0.9608375 0 7.11572e-08 FALSE 4.08627e-06 ENSE00001594092_013 ENSE00001594092 013 4 109765621 109765790 - 54 51 65 T C 109765729 1114 62 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATGCAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844572 108844573 108844573 upstr_intron -4 -0.04615385 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATGCAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 450 736 0.9935919 1 0.996796 0.9313283 1 0.8793121 0.9213279 NA NA 0.1142799 0.07867207 0.9656641 0.90032 NA 0.09647597 NA FALSE NA 0.083 0.023 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 26/32 1 NA GTA T,C 8.279e-06 4:108844573 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 splice_region_variant 1.217764 0.63491 0.01995 0.061011 0.8293588 0.227968 7.11572e-08 FALSE 4.20366e-06 ENSE00001594092_014 ENSE00001594092 014 4 109765621 109765790 - 54 51 65 T C 109765750 1115 41 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATGCATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 108844593 108844594 108844594 upstr_intron -25 -0.3692308 ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATGCATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG mutant NA NA NA NA NA 37 596 0.9786166 1 0.9893083 0.9313283 1 0.8793121 0.9213279 NA NA 0.09930453 0.07867207 0.9656641 0.90032 NA 0.0889883 NA FALSE NA 0.749 0.7 rs11943520 intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 26/32 rs11943520 1 C:0.0102 C:0.0386 C:0 NA C:0 C:0 C:0 C:0.0428 C:0 GTA T,C 0.003286 4:108844594 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003659602 intron_variant 0.693128 0.95644 0.26235 0.061011 0.7854141 0.408395 7.11572e-08 FALSE 0.00279709 ENSE00001594092_BRK ENSE00001594092 BRK 4 109765621 109765790 - 54 51 65 A,G; T,T NA NA NA ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACTTATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGCCAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG 108844464 108844634 NA NA NA NA NA NA ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACTTATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGCCAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG ATTCAAGTTGAACTGCCTTATCTAAATGAAGTAACCAAATACATTTTTATTTTTTGGACATACAGATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCTGGCCCCATGGTAAGTTTCCCTTCTTTCTGAAATGTAATTGCTTATTTATGAGCATGCTGCTAG control 92 59 0 0 0 NA NA NA NA NA 0.9313283 1 0.8793121 0.9213279 -0.9313283 -1 NA NA 0.9656641 0.90032 -0.9656641 NA NA NA TRUE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00003659602 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001594956_000 ENSE00001594956 000 3 38912129 38912298 - 53 54 63 NA NA NA NA NA CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC 38870637 38870807 NA NA NA NA NA NA CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC natural 29 13 0.9861778 1 0.9930889 2289 1944 0.9928578 0.9748259 0.9838419 0.9861778 1 0.9928578 0.9748259 0 0 0 0 0.9930889 0.9838419 0 0 0 FALSE FALSE NA NA NA NA NA SCN11A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCN11A NA NA NA ENSG00000168356 ENSE00001594956 NA NA NA NA NA NA NA 2.51866e-19 FALSE NA ENSE00001594956_004 ENSE00001594956 004 3 38912129 38912298 - 53 54 63 T C 38912163 587 136 CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCGTGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC 38870637 38870807 38870671 38870672 38870672 downstr_intron 19 1.365385 CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCGTGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC mutant NA NA NA NA NA 725 277 0.8513672 0.9757802 0.9135737 0.9861778 1 0.9928578 0.9748259 NA NA -0.1414907 0.0009542365 0.9930889 0.9838419 NA -0.07026821 NA FALSE NA 0 -2.459 . intron_variant MODIFIER SCN11A HGNC 10583 ENST00000450244 22/25 1 NA ATG T,C 8.237e-06 3:38870672 SCN11A HGNC Symbol protein_coding 104792 ENSG00000168356 ENSE00001594956 intron_variant 0.105816 0.18012 0.00927 0.061011 0.7190693 0.0755119 2.51866e-19 FALSE 4.07797e-06 ENSE00001594956_008 ENSE00001594956 008 3 38912129 38912298 - 53 54 63 C T 38912182 591 117 CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAAGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC 38870637 38870807 38870690 38870691 38870691 exon -1 1 CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAAGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC mutant NA NA NA NA NA 997 51 0.9964803 1 0.9982401 0.9861778 1 0.9928578 0.9748259 NA NA 0.003622415 0.02517408 0.9930889 0.9838419 NA 0.01439825 NA FALSE NA 0.021 -1.181 rs140708025 splice_region_variant&synonymous_variant LOW SCN11A HGNC 10583 ENST00000450244 22/26 rs140708025 1 NA T:0 T:0.0001 CCT C,T 8.237e-06 3:38870691 SCN11A HGNC Symbol protein_coding 104792 ENSG00000168356 ENSE00001594956 splice_region_variant 0.137226 0.89264 0.229 0.487112 0.5568033 0 2.51866e-19 FALSE 4.07485e-06 ENSE00001594956_011 ENSE00001594956 011 3 38912129 38912298 - 53 54 63 T C 38912217 594 82 CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGGTGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC 38870637 38870807 38870725 38870726 38870726 exon 19 0.3518519 CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGGTGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC mutant NA NA NA NA NA 64 219 1 1 1 0.9861778 1 0.9928578 0.9748259 NA NA 0.007142159 0.02517408 0.9930889 0.9838419 NA 0.01615812 NA FALSE NA 1 3.597 . missense_variant MODERATE SCN11A HGNC 10583 ENST00000450244 22/26 1 deleterious(0) benign(0.257) NA ATC T,C 8.237e-06 3:38870726 SCN11A HGNC Symbol protein_coding 104792 ENSG00000168356 ENSE00001594956 missense_variant 2.978496 0.97566 0.94656 0.487112 0.9593115 0 2.51866e-19 FALSE 4.07558e-06 ENSE00001594956_014 ENSE00001594956 014 3 38912129 38912298 - 53 54 63 A G 38912257 597 42 CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCACGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC 38870637 38870807 38870765 38870766 38870766 upstr_intron -22 -0.3333333 CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCACGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC mutant NA NA NA NA NA 84 1014 1 1 1 0.9861778 1 0.9928578 0.9748259 NA NA 0.007142159 0.02517408 0.9930889 0.9838419 NA 0.01615812 NA FALSE NA 0 1.407 NA NA NA SCN11A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:38870766 SCN11A HGNC Symbol protein_coding 104792 ENSG00000168356 ENSE00001594956 intron_variant 0.145131 0.23558 0.05556 0.061011 0.7867403 0.114767 2.51866e-19 FALSE 8.17361e-06 ENSE00001594956_017 ENSE00001594956 017 3 38912129 38912298 - 53 54 63 T C 38912273 600 26 CCATGTATCTGTTGATGGCAAGTCTGCATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC 38870637 38870807 38870781 38870782 38870782 upstr_intron -38 -0.5873016 CCATGTATCTGTTGATGGCAAGTCTGCATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC CCATGTATCTGTTGATGGCAAGTCTACATTTGTATTATTCATGTTTTTCTGCTTTTGTTGCAGGCAACATTTAAGGGCTGGATGGATATTATATATGCAGCTGTTGATTCCACAGAGGTGAGTCAGTGTTCTACCATGTTCTGGAGTGTTATGGTCAAGTCAGAGATATC mutant NA NA NA NA NA 235 24 1 1 1 0.9861778 1 0.9928578 0.9748259 NA NA 0.007142159 0.02517408 0.9930889 0.9838419 NA 0.01615812 NA FALSE NA 0 0.08 rs150131516 intron_variant MODIFIER SCN11A HGNC 10583 ENST00000450244 21/25 rs150131516 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 GTA T,C 8.238e-06 3:38870782 SCN11A HGNC Symbol protein_coding 104792 ENSG00000168356 ENSE00001594956 intron_variant 0.422694 0.1972 0.0168 0.061011 0.8191597 0.114823 2.51866e-19 FALSE 4.10576e-06 ENSE00001595572_000 ENSE00001595572 000 17 33954608 33954777 + 42 96 32 NA NA NA NA NA TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT 35627588 35627758 NA NA NA NA NA NA TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT natural NA NA NA NA NA 2384 708 0.9505894 0.9833743 0.9669819 NA NA 0.9505894 0.9833743 NA NA 0 0 NA 0.9669819 NA 0 NA FALSE NA NA NA NA NA NA AP2B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP2B1 NA NA NA ENSG00000006125 ENSE00003570401 NA NA NA NA NA NA NA 0.9996672 TRUE NA ENSE00001595572_001 ENSE00001595572 001 17 33954608 33954777 + 42 96 32 A C 33954629 1494 22 TTTGAGAATCCTTAATGATTACCCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT 35627588 35627758 35627609 35627610 35627610 upstr_intron -21 -0.4761905 TTTGAGAATCCTTAATGATTACCCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT mutant NA NA NA NA NA 1790 288 0.9238389 0.8005014 0.8621701 NA NA 0.9505894 0.9833743 NA NA -0.02675058 -0.1828729 NA 0.9669819 NA -0.1048118 NA FALSE NA 0 -0.462 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 8/21 1 NA AAC A,C 8.236e-06 17:35627610 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003570401 intron_variant 0.774148 0.22257 0.12541 0.156188 0.6582841 0.285014 0.9996672 TRUE 4.07302e-06 ENSE00001595572_002 ENSE00001595572 002 17 33954608 33954777 + 42 96 32 C T 33954631 1495 24 TTTGAGAATCCTTAATGATTAACTACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT 35627588 35627758 35627611 35627612 35627612 upstr_intron -19 -0.4285714 TTTGAGAATCCTTAATGATTAACTACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT mutant NA NA NA NA NA 256 567 0.9756906 0.9992583 0.9874744 NA NA 0.9505894 0.9833743 NA NA 0.0251012 0.01588392 NA 0.9669819 NA 0.02049256 NA FALSE NA 0 -2.878 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 8/21 1 NA CCA C,T 1.647e-05 17:35627612 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003570401 intron_variant 0.846335 0.1276 0.00748 0.295142 0.5656351 0.356354 0.9996672 TRUE 1.22237e-05 ENSE00001595572_004 ENSE00001595572 004 17 33954608 33954777 + 42 96 32 C G 33954636 1497 29 TTTGAGAATCCTTAATGATTAACCACTTGCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT 35627588 35627758 35627616 35627617 35627617 upstr_intron -14 -0.3095238 TTTGAGAATCCTTAATGATTAACCACTTGCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT mutant NA NA NA NA NA 947 59 0.9415603 0.9973099 0.9694351 NA NA 0.9505894 0.9833743 NA NA -0.009029144 0.01393559 NA 0.9669819 NA 0.002453223 NA FALSE NA 0 -0.867 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 8/21 1 NA TCC C,G 1.647e-05 17:35627617 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003570401 intron_variant 0.875009 0.25712 0.20342 0.295142 0.6987153 0.427174 0.9996672 TRUE 8.1412e-06 ENSE00001595572_006 ENSE00001595572 006 17 33954608 33954777 + 42 96 32 A G 33954658 1499 51 TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCGGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT 35627588 35627758 35627638 35627639 35627639 exon 9 0.09375 TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCGGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT mutant NA NA NA NA NA 444 11 0.9995356 1 0.9997678 NA NA 0.9505894 0.9833743 NA NA 0.0489462 0.01662567 NA 0.9669819 NA 0.03278593 NA FALSE NA 0.077 -0.39 . synonymous_variant LOW AP2B1 HGNC 563 ENST00000589344 9/22 rs374337746 1 NA G:0 G:0.0001 CAG A,G 7.413e-05 17:35627639 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003570401 synonymous_variant 0.559419 0.96628 0.33997 0.706548 0.6927442 0 0.9996672 TRUE 6.90905e-05 ENSE00001595572_007 ENSE00001595572 007 17 33954608 33954777 + 42 96 32 G A 33954682 1500 75 TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAAGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT 35627588 35627758 35627662 35627663 35627663 exon 33 0.34375 TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAAGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT mutant NA NA NA NA NA 115 152 1 1 1 NA NA 0.9505894 0.9833743 NA NA 0.04941056 0.01662567 NA 0.9669819 NA 0.03301811 NA FALSE NA 1 2.348 . synonymous_variant LOW AP2B1 HGNC 563 ENST00000589344 9/22 rs377438224 1 NA A:0 A:0.0001 AGG G,A 1.647e-05 17:35627663 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003570401 synonymous_variant 0.792142 0.97767 0.94503 0.706548 0.4806982 0 0.9996672 TRUE 1.21875e-05 ENSE00001595572_008 ENSE00001595572 008 17 33954608 33954777 + 42 96 32 G A 33954763 1501 156 TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAATTAGGATCATGTAT 35627588 35627758 35627743 35627744 35627744 downstr_intron 18 1.580645 TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAATTAGGATCATGTAT TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT mutant NA NA NA NA NA 1130 1246 1 0.9962636 0.9981318 NA NA 0.9505894 0.9833743 NA NA 0.04941056 0.01288923 NA 0.9669819 NA 0.03114989 NA FALSE NA 0.023 1.086 . intron_variant MODIFIER AP2B1 HGNC 563 ENST00000589344 9/21 1 NA AGT G,A 1.647e-05 17:35627744 AP2B1 HGNC Symbol protein_coding 148363 ENSG00000006125 ENSE00003570401 intron_variant 0.066189 0.22518 0.03852 0.099367 0.5758736 0.0463007 0.9996672 TRUE 8.23696e-06 ENSE00001595572_BRK ENSE00001595572 BRK 17 33954608 33954777 + 42 96 32 A,G; T,T NA NA NA TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACTTGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGCCAAGTGTCTGATGGTAGTTAGGATCATGTAT 35627588 35627758 NA NA NA NA NA NA TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACTTGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGCCAAGTGTCTGATGGTAGTTAGGATCATGTAT TTTGAGAATCCTTAATGATTAACCACTTCCTGGGTTTAACAGGTTCTGGCAGAACTGAAAGAATATGCTACAGAGGTGGATGTTGACTTTGTTCGAAAAGCTGTGCGGGCCATTGGACGGTGTGCCATCAAGGTGGAGGCAAGTGTCTGATGGTAGTTAGGATCATGTAT control NA NA NA NA NA 349 95 0.01689623 0 0.008448114 NA NA 0.9505894 0.9833743 NA NA -0.9336932 -0.9833743 NA 0.9669819 NA -0.9585338 NA TRUE NA NA NA NA NA NA AP2B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP2B1 NA NA NA ENSG00000006125 ENSE00003570401 NA NA NA NA NA NA NA 0.9996672 TRUE NA ENSE00001596219_000 ENSE00001596219 000 X 70468252 70468421 - 36 87 47 NA NA NA NA NA CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG 71248401 71248571 NA NA NA NA NA NA CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG natural NA NA NA NA NA 405 307 0.9585108 0.9678234 0.9631671 NA NA 0.9585108 0.9678234 NA NA 0 0 NA 0.9631671 NA 0 NA FALSE NA NA NA NA NA NA ZMYM3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMYM3 NA NA NA ENSG00000147130 ENSE00003661454 NA NA NA NA NA NA NA 0.9999668 TRUE NA ENSE00001596219_003 ENSE00001596219 003 X 70468252 70468421 - 36 87 47 T C 70468266 654 156 CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCGCGTCTTGCCACACG 71248401 71248571 71248415 71248416 71248416 downstr_intron 22 1.628571 CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCGCGTCTTGCCACACG CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG mutant NA NA NA NA NA 171 506 0.9697721 0.9884475 0.9791098 NA NA 0.9585108 0.9678234 NA NA 0.01126131 0.0206241 NA 0.9631671 NA 0.0159427 NA FALSE NA 0.003 -0.259 . downstream_gene_variant MODIFIER ZMYM3 HGNC 13054 ENST00000373982 1 NA GTG T,C 1.649e-05 X:71248416 ZMYM3 HGNC Symbol protein_coding 15522 ENSG00000147130 ENSE00003661454 intron_variant -0.758482 0.53306 0.13061 0 0.626465 0.143577 0.9999668 TRUE 1.84386e-05 ENSE00001596219_004 ENSE00001596219 004 X 70468252 70468421 - 36 87 47 T C 70468317 655 105 CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCGGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG 71248401 71248571 71248466 71248467 71248467 exon -30 0.6666667 CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCGGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG mutant NA NA NA NA NA 1238 40 0.8136668 0.8906303 0.8521486 NA NA 0.9585108 0.9678234 NA NA -0.1448439 -0.07719315 NA 0.9631671 NA -0.1110185 NA FALSE NA 1 7.589 rs147589472 downstream_gene_variant MODIFIER ZMYM3 HGNC 13054 ENST00000373982 rs147589472 1 NA C:0 C:0.0001 CTG T,C 2.471e-05 X:71248467 ZMYM3 HGNC Symbol protein_coding 15522 ENSG00000147130 ENSE00003661454 missense_variant 2.893919 0.99268 0.99769 0 0.9942877 0 0.9999668 TRUE 5.70425e-06 ENSE00001596219_005 ENSE00001596219 005 X 70468252 70468421 - 36 87 47 G C 70468323 656 99 CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCGTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG 71248401 71248571 71248472 71248473 71248473 exon -36 0.5977011 CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCGTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG mutant NA NA NA NA NA 410 118 0.9458536 1 0.9729268 NA NA 0.9585108 0.9678234 NA NA -0.01265717 0.03217658 NA 0.9631671 NA 0.009759707 NA FALSE NA 1 4.702 . downstream_gene_variant MODIFIER ZMYM3 HGNC 13054 ENST00000373982 1 NA AGG G,C 8.238e-06 X:71248473 ZMYM3 HGNC Symbol protein_coding 15522 ENSG00000147130 ENSE00003661454 missense_variant 1.54333 0.98119 0.96961 0 0.9521985 0 0.9999668 TRUE 5.69226e-06 ENSE00001596219_009 ENSE00001596219 009 X 70468252 70468421 - 36 87 47 A C 70468383 660 39 CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTGCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG 71248401 71248571 71248532 71248533 71248533 upstr_intron -9 -0.1702128 CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTGCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG mutant NA NA NA NA NA 160 527 0.01151215 0.009257783 0.01038496 NA NA 0.9585108 0.9678234 NA NA -0.9469986 -0.9585656 NA 0.9631671 NA -0.9527821 NA TRUE NA 1 1.319 . downstream_gene_variant MODIFIER ZMYM3 HGNC 13054 ENST00000373982 1 NA GAA A,C 8.239e-06 X:71248533 ZMYM3 HGNC Symbol protein_coding 15522 ENSG00000147130 ENSE00003661454 intron_variant 0.507004 0.97646 0.91575 0 0.7483267 0.547437 0.9999668 TRUE 5.7927e-06 ENSE00001596219_010 ENSE00001596219 010 X 70468252 70468421 - 36 87 47 T A 70468395 661 27 CGCTGCACACATCTTGCCCCTCCCTTTCTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG 71248401 71248571 71248544 71248545 71248545 upstr_intron -21 -0.4255319 CGCTGCACACATCTTGCCCCTCCCTTTCTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG mutant NA NA NA NA NA 197 288 0.908905 1 0.9544525 NA NA 0.9585108 0.9678234 NA NA -0.0496058 0.03217658 NA 0.9631671 NA -0.00871461 NA FALSE NA 1 0.866 . downstream_gene_variant MODIFIER ZMYM3 HGNC 13054 ENST00000373982 rs377766546 1 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0006 GTA T,A 0.0004697 X:71248545 ZMYM3 HGNC Symbol protein_coding 15522 ENSG00000147130 ENSE00003661454 intron_variant 1.166265 0.96539 0.6204 0 0.8266928 0.42388 0.9999668 TRUE 0.000435679 ENSE00001596219_BRK ENSE00001596219 BRK X 70468252 70468421 - 36 87 47 A,G; T,T NA NA NA CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCTTCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGCCAAGAGCCCCACCCCCACCCACGTCTTGCCACACG 71248401 71248571 NA NA NA NA NA NA CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCTTCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGCCAAGAGCCCCACCCCCACCCACGTCTTGCCACACG CGCTGCACACATCTTGCCCCTCCCTTACTTGTCTTCCTTCCCTCCAGCGCACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGCAAGCCTGAGGTCTTGGACTGGCAGGTAAGAGCCCCACCCCCACCCACGTCTTGCCACACG control NA NA NA NA NA 207 34 0.002914151 0 0.001457075 NA NA 0.9585108 0.9678234 NA NA -0.9555966 -0.9678234 NA 0.9631671 NA -0.96171 NA TRUE NA NA NA NA NA NA ZMYM3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMYM3 NA NA NA ENSG00000147130 ENSE00003661454 NA NA NA NA NA NA NA 0.9999668 TRUE NA ENSE00001596360_000 ENSE00001596360 000 9 117002437 117002606 + 63 54 53 NA NA NA NA NA TTCTGCAGAGCTGTCTGCTCCTCCAACTGGAGCTGCCCTGGGCAGGTACTCACCTTCATGCCTTCTGGGCCATTGTCGCCAGGGGGGCCGATGTCTCCTGGGAATCCCTGAGGGGAAGCAGAGAGCAGGGTCACCCACGGGGGCTGTGAAGGGAGTGCTACGGGGATGCG 114240156 114240326 NA NA NA NA NA NA CGCATCCCCGTAGCACTCCCTTCACAGCCCCCGTGGGTGACCCTGCTCTCTGCTTCCCCTCAGGGATTCCCAGGAGACATCGGCCCCCCTGGCGACAATGGCCCAGAAGGCATGAAGGTGAGTACCTGCCCAGGGCAGCTCCAGTTGGAGGAGCAGACAGCTCTGCAGAA CGCATCCCCGTAGCACTCCCTTCACAGCCCCCGTGGGTGACCCTGCTCTCTGCTTCCCCTCAGGGATTCCCAGGAGACATCGGCCCCCCTGGCGACAATGGCCCAGAAGGCATGAAGGTGAGTACCTGCCCAGGGCAGCTCCAGTTGGAGGAGCAGACAGCTCTGCAGAA natural 18 15 0.9221061 0.9957031 0.9589046 842 343 0.9974409 0.9969964 0.9972187 0.9221061 0.9957031 0.9974409 0.9969964 0 0 0 0 0.9589046 0.9972187 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003558472 NA NA NA NA NA NA NA NA NA NA ENSE00001596360_BRK ENSE00001596360 BRK 9 117002437 117002606 + 63 54 53 A,G; T,T NA NA NA TTCTGCAGAGCTGTCTGCTCCTCCAACTGGAGCTGCCCTGGGCAGGTACTCGGCTTCATGCCTTCTGGGCCATTGTCGCCAGGGGGGCCGATGTCTCCTGGGAATCCAAGAGGGGAAGCAGAGAGCAGGGTCACCCACGGGGGCTGTGAAGGGAGTGCTACGGGGATGCG 114240156 114240326 NA NA NA NA NA NA CGCATCCCCGTAGCACTCCCTTCACAGCCCCCGTGGGTGACCCTGCTCTCTGCTTCCCCTCTTGGATTCCCAGGAGACATCGGCCCCCCTGGCGACAATGGCCCAGAAGGCATGAAGCCGAGTACCTGCCCAGGGCAGCTCCAGTTGGAGGAGCAGACAGCTCTGCAGAA CGCATCCCCGTAGCACTCCCTTCACAGCCCCCGTGGGTGACCCTGCTCTCTGCTTCCCCTCAGGGATTCCCAGGAGACATCGGCCCCCCTGGCGACAATGGCCCAGAAGGCATGAAGGTGAGTACCTGCCCAGGGCAGCTCCAGTTGGAGGAGCAGACAGCTCTGCAGAA control 173 13 0 0 0 NA NA NA NA NA 0.9221061 0.9957031 0.9974409 0.9969964 -0.9221061 -0.9957031 NA NA 0.9589046 0.9972187 -0.9589046 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003558472 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001596361_000 ENSE00001596361 000 3 9719615 9719784 + 53 75 42 NA NA NA NA NA TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 NA NA NA NA NA NA TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT natural 640 809 0.8428455 0.886553 0.8646992 2344 3423 0.901624 0.8637289 0.8826764 0.8428455 0.886553 0.901624 0.8637289 0 0 0 0 0.8646992 0.8826764 0 0 0 FALSE FALSE NA NA NA NA NA MTMR14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR14 NA NA NA ENSG00000163719 ENSE00003547534 NA NA NA NA NA NA NA 0.002939821 FALSE NA ENSE00001596361_001 ENSE00001596361 001 3 9719615 9719784 + 53 75 42 G A 9719630 91 16 TAAGCCTCCTCTGGTAGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9677945 9677946 9677946 upstr_intron -38 -0.6981132 TAAGCCTCCTCTGGTAGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 932 486 0.9623459 0.8135283 0.8879371 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.06072188 -0.05020055 0.8646992 0.8826764 NA 0.005260667 NA FALSE NA 0 -0.046 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA TGG G,A 8.268e-06 3:9677946 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 intron_variant 1.284509 0.2711 0.14463 0.256867 0.8272603 0.0641352 0.002939821 FALSE 8.18666e-06 ENSE00001596361_002 ENSE00001596361 002 3 9719615 9719784 + 53 75 42 A T 9719635 92 21 TAAGCCTCCTCTGGTGGCCATCCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9677950 9677951 9677951 upstr_intron -33 -0.6037736 TAAGCCTCCTCTGGTGGCCATCCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 82 37 0.9712398 0.95 0.9606199 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.06961576 0.08627114 0.8646992 0.8826764 NA 0.07794345 NA FALSE NA 0 -1.668 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 rs373789816 1 NA T:0 T:0.0001 AAC A,T 3.307e-05 3:9677951 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 intron_variant 0.410005 0.19796 0.04604 0.256867 0.7377382 0.0489983 0.002939821 FALSE 2.85535e-05 ENSE00001596361_003 ENSE00001596361 003 3 9719615 9719784 + 53 75 42 C G 9719637 93 23 TAAGCCTCCTCTGGTGGCCAACGCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9677952 9677953 9677953 upstr_intron -31 -0.5660377 TAAGCCTCCTCTGGTGGCCAACGCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 359 34 0.95 0.9473759 0.9486879 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.04837599 0.08364699 0.8646992 0.8826764 NA 0.06601149 NA FALSE NA 0 -0.635 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 rs569533704 1 NA CCC C,G 2.48e-05 3:9677953 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 intron_variant 0.270045 0.28064 0.13684 0.256867 0.6773883 0.0489983 0.002939821 FALSE 2.03975e-05 ENSE00001596361_004 ENSE00001596361 004 3 9719615 9719784 + 53 75 42 C T 9719640 94 26 TAAGCCTCCTCTGGTGGCCAACCCATATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9677955 9677956 9677956 upstr_intron -28 -0.509434 TAAGCCTCCTCTGGTGGCCAACCCATATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 146 535 0.9876508 0.9866637 0.9871573 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.08602682 0.1229349 0.8646992 0.8826764 NA 0.1044808 NA FALSE NA 0 -1.119 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA ACA C,T 8.268e-06 3:9677956 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 intron_variant 0.253113 0.21228 0.07566 0.256867 0.670717 0.0489983 0.002939821 FALSE 4.07657e-06 ENSE00001596361_005 ENSE00001596361 005 3 9719615 9719784 + 53 75 42 C G 9719654 95 40 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTGTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9677969 9677970 9677970 upstr_intron -14 -0.245283 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTGTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 1026 619 0.9514094 0.9568768 0.9541431 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.04978542 0.09314794 0.8646992 0.8826764 NA 0.07146668 NA FALSE NA 0.979 0.3 rs188918962 intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 rs188918962 1 G:0.0004 G:0 G:0.0014 NA G:0 G:0.001 G:0 G:0 G:0.0004 TCT C,G 4.134e-05 3:9677970 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 intron_variant 1.625595 0.93123 0.66874 0.256867 0.6611274 0.325934 0.002939821 FALSE 6.50819e-05 ENSE00001596361_007 ENSE00001596361 007 3 9719615 9719784 + 53 75 42 C T 9719665 97 51 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCTAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9677980 9677981 9677981 upstr_intron -3 -0.03773585 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCTAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 288 323 0.9481839 0.9606184 0.9544012 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.04655989 0.09688957 0.8646992 0.8826764 NA 0.07172473 NA FALSE NA 0.383 0.933 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA CCA C,T 8.269e-06 3:9677981 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 splice_region_variant 1.532869 0.92713 0.63178 0.256867 0.71083 0.415739 0.002939821 FALSE NA ENSE00001596361_008 ENSE00001596361 008 3 9719615 9719784 + 53 75 42 A T 9719669 98 55 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGTCTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9677984 9677985 9677985 exon 2 0.02666667 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGTCTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 45 75 1 1 1 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.09837599 0.1362711 0.8646992 0.8826764 NA 0.1173236 NA FALSE NA 1 8.364 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 rs527765188 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GAC A,T 8.268e-06 3:9677985 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 missense_variant 6.230616 0.97353 0.99026 0.706548 0.9941405 0 0.002939821 FALSE 4.06359e-06 ENSE00001596361_009 ENSE00001596361 009 3 9719615 9719784 + 53 75 42 T G 9719679 99 65 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGAGGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9677994 9677995 9677995 exon 12 0.16 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGAGGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 3147 39 0.953746 0.9381311 0.9459386 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.052122 0.07440224 0.8646992 0.8826764 NA 0.06326212 NA FALSE NA 1 1.523 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA ATG T,G 8.269e-06 3:9677995 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 missense_variant 5.110939 0.94295 0.94019 0.706548 0.9962663 0 0.002939821 FALSE NA ENSE00001596361_011 ENSE00001596361 011 3 9719615 9719784 + 53 75 42 A G 9719689 101 75 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGGGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9678004 9678005 9678005 exon 22 0.2933333 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGGGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 251 103 0.7915509 0.8028055 0.7971782 0.8428455 0.886553 0.901624 0.8637289 NA NA -0.1100731 -0.06092331 0.8646992 0.8826764 NA -0.08549819 NA FALSE NA 1 6.411 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA GAG A,G 8.27e-06 3:9678005 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 missense_variant 1.307956 0.95277 0.97303 0.706548 0.9874499 0 0.002939821 FALSE 4.06279e-06 ENSE00001596361_012 ENSE00001596361 012 3 9719615 9719784 + 53 75 42 C T 9719695 102 81 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCTCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9678010 9678011 9678011 exon 28 0.3733333 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCTCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 449 516 0.9369904 0.9625579 0.9497742 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.0353664 0.09882908 0.8646992 0.8826764 NA 0.06709774 NA FALSE NA 1 6.994 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 rs372538745&COSM1538557 1 NA T:0.0002 T:0 CCC C,T 8.269e-06 3:9678011 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 missense_variant 6.266971 0.97841 0.98106 0.706548 0.9991311 0 0.002939821 FALSE 1.2189e-05 ENSE00001596361_014 ENSE00001596361 014 3 9719615 9719784 + 53 75 42 G A 9719698 104 84 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCAACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9678013 9678014 9678014 exon 31 0.4133333 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCAACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 418 92 0.8173852 0.8132957 0.8153404 0.8428455 0.886553 0.901624 0.8637289 NA NA -0.08423881 -0.0504332 0.8646992 0.8826764 NA -0.06733601 NA FALSE NA 0.089 1.716 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA CGA G,A 8.269e-06 3:9678014 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 missense_variant 2.21552 0.58287 0.46554 0.706548 0.9791601 0 0.002939821 FALSE 4.06359e-06 ENSE00001596361_015 ENSE00001596361 015 3 9719615 9719784 + 53 75 42 C A 9719703 105 89 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTACTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9678018 9678019 9678019 exon 36 0.48 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTACTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 238 129 0.8006768 0.8 0.8003384 0.8428455 0.886553 0.901624 0.8637289 NA NA -0.1009472 -0.06372886 0.8646992 0.8826764 NA -0.08233802 NA FALSE NA 1 1.367 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA TCC C,A 8.269e-06 3:9678019 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 missense_variant 4.773066 0.94895 0.92029 0.706548 0.9747322 0 0.002939821 FALSE NA ENSE00001596361_016 ENSE00001596361 016 3 9719615 9719784 + 53 75 42 C T 9719710 106 96 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTTACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9678025 9678026 9678026 exon -33 0.5733333 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTTACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 928 93 0.9416541 0.9230401 0.9323471 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.04003009 0.05931121 0.8646992 0.8826764 NA 0.04967065 NA FALSE NA 0.012 2.202 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA TCA C,T 5.788e-05 3:9678026 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 missense_variant 1.199355 0.93698 0.43842 0.706548 0.7716007 0 0.002939821 FALSE 2.84391e-05 ENSE00001596361_023 ENSE00001596361 023 3 9719615 9719784 + 53 75 42 C T 9719752 113 138 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCTTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9678067 9678068 9678068 downstr_intron 10 1.243902 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCTTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 309 29 0.9587074 0.9986768 0.9786921 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.05708335 0.1349479 0.8646992 0.8826764 NA 0.09601565 NA FALSE NA 0.184 3.164 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 rs531916992 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 9.092e-05 3:9678068 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 intron_variant 0.361062 0.65465 0.7839 0.069865 0.5864802 0.303745 0.002939821 FALSE 9.75864e-05 ENSE00001596361_024 ENSE00001596361 024 3 9719615 9719784 + 53 75 42 C T 9719758 114 144 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTTAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 9678073 9678074 9678074 downstr_intron 16 1.390244 TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTTAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT mutant NA NA NA NA NA 23 39 0.9339989 1 0.9669995 0.8428455 0.886553 0.901624 0.8637289 NA NA 0.03237493 0.1362711 0.8646992 0.8826764 NA 0.08432304 NA FALSE NA 0 -2.048 . intron_variant MODIFIER MTMR14 HGNC 26190 ENST00000420925 1/8 1 NA TCA C,T 8.265e-06 3:9678074 MTMR14 HGNC Symbol protein_coding 52960 ENSG00000163719 ENSE00003547534 intron_variant -0.001142 0.27616 0.07446 0.099367 0.5922849 0.108857 0.002939821 FALSE 4.06788e-06 ENSE00001596361_BRK ENSE00001596361 BRK 3 9719615 9719784 + 53 75 42 A,G; T,T NA NA NA TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCTTGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGCCGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT 9677930 9678100 NA NA NA NA NA NA TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCTTGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGCCGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT TAAGCCTCCTCTGGTGGCCAACCCACATCTCACAGGAGTCTTTCTGTCCCCAGGACTACGTTGATGCCCCATTGAGCATCCCCGACTTCCTGACTCACTCTCTGAACATTGACTGGAGCCAGTATCAGGTGAGGGGCCTGACTCAAGCATTGAGGGCAGGATAAGGGAGT control 119 60 0 0 0 1390 269 0 0.003079696 0.001539848 0.8428455 0.886553 0.901624 0.8637289 -0.8428455 -0.886553 -0.901624 -0.8606492 0.8646992 0.8826764 -0.8646992 -0.8811366 0.01643738 TRUE TRUE NA NA NA NA NA MTMR14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTMR14 NA NA NA ENSG00000163719 ENSE00003547534 NA NA NA NA NA NA NA 0.002939821 FALSE NA ENSE00001596653_000 ENSE00001596653 000 3 50009447 50009616 + 45 90 35 NA NA NA NA NA TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 NA NA NA NA NA NA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA natural 87 96 0.9853362 0.9536394 0.9694878 1282 2837 0.8418755 0.8297674 0.8358214 0.9853362 0.9536394 0.8418755 0.8297674 0 0 0 0 0.9694878 0.8358214 0 0 0 FALSE FALSE NA NA NA NA NA RBM6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBM6 NA NA NA ENSG00000004534 ENSE00003693925 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001596653_001 ENSE00001596653 001 3 50009447 50009616 + 45 90 35 G A 50009463 1216 17 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCATAAATATACTTTACTGC 49972013 49972183 49972029 49972030 49972030 upstr_intron -29 -0.6222222 GCAGTAAAGTATATTTATGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 29 453 1 0.9985481 0.9992741 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.1581245 0.1687807 0.9694878 0.8358214 NA 0.1634526 NA FALSE NA 0.137 -0.213 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA TGT G,A 4.118e-05 3:49972030 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 intron_variant 0.45532 0.3067 0.24601 0.322412 0.6407413 0.119909 1 TRUE 3.80444e-05 ENSE00001596653_002 ENSE00001596653 002 3 50009447 50009616 + 45 90 35 A G 50009485 1217 39 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAACTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972051 49972052 49972052 upstr_intron -7 -0.1333333 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAGTTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 1740 657 0.9982125 0.9997592 0.9989859 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.156337 0.1699918 0.9694878 0.8358214 NA 0.1631644 NA FALSE NA 1 2.219 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA AAT A,G 1.647e-05 3:49972052 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 splice_region_variant 0.490921 0.8959 0.82052 0.322412 0.5046904 0.326732 1 TRUE 1.65826e-05 ENSE00001596653_004 ENSE00001596653 004 3 50009447 50009616 + 45 90 35 C T 50009509 1219 63 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCAGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972075 49972076 49972076 exon 18 0.2 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACTGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 1251 201 0.8628471 0.9976321 0.9302396 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.02097162 0.1678648 0.9694878 0.8358214 NA 0.09441819 NA FALSE NA 0.908 -0.181 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA CCG C,T 4.118e-05 3:49972076 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 synonymous_variant 2.027783 0.94724 0.30965 0.732398 0.607711 0 1 TRUE 6.10386e-05 ENSE00001596653_005 ENSE00001596653 005 3 50009447 50009616 + 45 90 35 G T 50009511 1220 65 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGACGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972077 49972078 49972078 exon 20 0.2222222 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGTCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 2315 769 0.9957818 0.9997943 0.997788 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.1539063 0.1700269 0.9694878 0.8358214 NA 0.1619666 NA FALSE NA 1 3.1 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA GGC G,T 2.471e-05 3:49972078 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 missense_variant 4.755305 0.98334 0.89724 0.732398 0.9940487 0 1 TRUE 1.62631e-05 ENSE00001596653_006 ENSE00001596653 006 3 50009447 50009616 + 45 90 35 C T 50009513 1221 67 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGAGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972079 49972080 49972080 exon 22 0.2444444 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCTCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 21 232 1 0.9667148 0.9833574 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.1581245 0.1369474 0.9694878 0.8358214 NA 0.1475359 NA FALSE NA 0.952 0.307 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA CCC C,T 8.236e-06 3:49972080 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 missense_variant 1.932409 0.96195 0.58489 0.732398 0.8953048 0 1 TRUE 4.06537e-06 ENSE00001596653_008 ENSE00001596653 008 3 50009447 50009616 + 45 90 35 C T 50009530 1223 84 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTAGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972096 49972097 49972097 exon 39 0.4333333 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCTAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 916 736 0.9977252 0.998277 0.9980011 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.1558497 0.1685097 0.9694878 0.8358214 NA 0.1621797 NA FALSE NA 0.984 0.245 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 rs369629704 1 NA T:0.0002 T:0 CCA C,T 1.647e-05 3:49972097 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 synonymous_variant 1.876541 0.96318 0.55052 0.732398 0.5673853 0 1 TRUE 1.62582e-05 ENSE00001596653_009 ENSE00001596653 009 3 50009447 50009616 + 45 90 35 T C 50009541 1224 95 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAGTAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972107 49972108 49972108 exon -41 0.5555556 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTACTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 169 54 0.987055 1 0.9935275 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.1451795 0.1702326 0.9694878 0.8358214 NA 0.1577061 NA FALSE NA 1 5.475 rs148410099 intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 rs148410099 1 NA C:0.0002 C:0 ATT T,C 8.236e-06 3:49972108 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 missense_variant 5.677388 0.98736 0.9579 0.732398 0.9986293 0 1 TRUE 1.62555e-05 ENSE00001596653_011 ENSE00001596653 011 3 50009447 50009616 + 45 90 35 G A 50009544 1226 98 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATTGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972110 49972111 49972111 exon -38 0.5888889 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCAATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 545 836 0.9981735 0.9994977 0.9988356 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.156298 0.1697303 0.9694878 0.8358214 NA 0.1630142 NA FALSE NA 1 1.772 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA CGA G,A 1.647e-05 3:49972111 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 missense_variant 3.214885 0.97893 0.87487 0.732398 0.9992514 0 1 TRUE 8.13332e-06 ENSE00001596653_013 ENSE00001596653 013 3 50009447 50009616 + 45 90 35 G A 50009561 1228 115 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTTAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972127 49972128 49972128 exon -21 0.7777778 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTAAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 355 354 1 0.999553 0.9997765 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.1581245 0.1697856 0.9694878 0.8358214 NA 0.1639551 NA FALSE NA 1 3.543 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA TGA G,A 2.471e-05 3:49972128 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 missense_variant 2.676402 0.98291 0.87251 0.732398 0.988182 0 1 TRUE 1.62701e-05 ENSE00001596653_014 ENSE00001596653 014 3 50009447 50009616 + 45 90 35 A G 50009574 1229 128 TGACACAGAGAAACAGGAGAGAAGACATGCCTTACCTCTTCTCTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972140 49972141 49972141 exon -8 0.9222222 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAGAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 1021 191 0.9908495 0.9991711 0.9950103 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.148974 0.1694037 0.9694878 0.8358214 NA 0.1591888 NA FALSE NA 1 4.777 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA AAA A,G 8.236e-06 3:49972141 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 missense_variant 4.014097 0.97922 0.87602 0.732398 0.9974862 0 1 TRUE 4.07471e-06 ENSE00001596653_016 ENSE00001596653 016 3 50009447 50009616 + 45 90 35 G A 50009591 1231 145 TGACACAGAGAAACAGGAGAGAAGATATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972157 49972158 49972158 downstr_intron 10 1.294118 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATATCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 224 1126 1 0.9878351 0.9939175 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.1581245 0.1580677 0.9694878 0.8358214 NA 0.1580961 NA FALSE NA 0 -0.628 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA TGT G,A 8.237e-06 3:49972158 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 intron_variant -0.108228 0.16494 0.01986 0.106106 0.405262 0.0455939 1 TRUE 4.1806e-06 ENSE00001596653_017 ENSE00001596653 017 3 50009447 50009616 + 45 90 35 C A 50009600 1232 154 TGACACAGAGAAACAGTAGAGAAGACATGCCTTACCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCCTTAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 49972166 49972167 49972167 downstr_intron 19 1.558824 GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTACTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA mutant NA NA NA NA NA 74 927 1 0.9991332 0.9995666 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.1581245 0.1693658 0.9694878 0.8358214 NA 0.1637452 NA FALSE NA 0 -0.199 . intron_variant MODIFIER RBM6 HGNC 9903 ENST00000539992 2/15 1 NA TCC C,A 8.237e-06 3:49972167 RBM6 HGNC Symbol protein_coding 160038 ENSG00000004534 ENSE00003693925 intron_variant -0.026839 0.1673 0.06103 0.106106 0.4336535 0.0455939 1 TRUE 4.45018e-06 ENSE00001596653_BRK ENSE00001596653 BRK 3 50009447 50009616 + 45 90 35 A,G; T,T NA NA NA TGACACAGAGAAACAGGAGAGAAGACATGCCTTGGCTCTTCTTTTGTGGCATCTTCAGGTACCCCACTTAATCGAATAAGCCTGCTGGGTTTCTCCTCACTTGGGCCGGTCCTATAATCTTGATCAATAAATTGAGAATGAAAAATTATTTCACAAATATACTTTACTGC 49972013 49972183 NA NA NA NA NA NA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTATTGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGCCAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA GCAGTAAAGTATATTTGTGAAATAATTTTTCATTCTCAATTTAAGGATCAAGATTATAGGACCGGCCCAAGTGAGGAGAAACCCAGCAGGCTTATTCGATTAAGTGGGGTACCTGAAGATGCCACAAAAGAAGAGGTAAGGCATGTCTTCTCTCCTGTTTCTCTGTGTCA control NA NA NA NA NA 130 28 0.8560652 0.8 0.8280326 0.9853362 0.9536394 0.8418755 0.8297674 NA NA 0.01418971 -0.02976738 0.9694878 0.8358214 NA -0.007788833 NA FALSE NA NA NA NA NA NA RBM6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBM6 NA NA NA ENSG00000004534 ENSE00003693925 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001597290_000 ENSE00001597290 000 2 28836841 28837010 + 57 66 47 NA NA NA NA NA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA 28613973 28614143 NA NA NA NA NA NA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA natural NA NA NA NA NA 246 640 0.9496359 0.9228218 0.9362288 NA NA 0.9496359 0.9228218 NA NA 0 0 NA 0.9362288 NA 0 NA FALSE NA NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003621474 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001597290_002 ENSE00001597290 002 2 28836841 28837010 + 57 66 47 C T 28836859 792 19 CTCAAGCAAACTTCAGTGTTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA 28613973 28614143 28613991 28613992 28613992 upstr_intron -39 -0.6666667 CTCAAGCAAACTTCAGTGTTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA mutant NA NA NA NA NA 202 126 0.9931007 0.982204 0.9876523 NA NA 0.9496359 0.9228218 NA NA 0.04346483 0.05938221 NA 0.9362288 NA 0.05142352 NA FALSE NA 0.003 0.059 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 43/57 1 NA GCT C,T 1.647e-05 2:28613992 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003621474 intron_variant 0.471666 0.21796 0.09952 0.065574 0.6025804 0.197153 1.993153e-56 FALSE 1.22107e-05 ENSE00001597290_006 ENSE00001597290 006 2 28836841 28837010 + 57 66 47 G A 28836879 796 39 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATATGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA 28613973 28614143 28614011 28614012 28614012 upstr_intron -19 -0.3157895 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATATGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA mutant NA NA NA NA NA 37 216 1 1 1 NA NA 0.9496359 0.9228218 NA NA 0.05036412 0.07717824 NA 0.9362288 NA 0.06377118 NA FALSE NA 0.002 0.323 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 43/57 1 NA TGT G,A 0.0001071 2:28614012 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003621474 intron_variant 0.69352 0.31593 0.15578 0.065574 0.7521355 0.196933 1.993153e-56 FALSE 9.35926e-05 ENSE00001597290_015 ENSE00001597290 015 2 28836841 28837010 + 57 66 47 T C 28836907 805 67 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCCTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA 28613973 28614143 28614039 28614040 28614040 exon 10 0.1515152 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCCTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA mutant NA NA NA NA NA 60 429 1 0.9999112 0.9999556 NA NA 0.9496359 0.9228218 NA NA 0.05036412 0.07708948 NA 0.9362288 NA 0.0637268 NA FALSE NA 1 3.95 rs180979575 missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 44/58 rs180979575 1 deleterious(0) probably_damaging(0.999) NA CTT T,C 0.0001235 2:28614040 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003621474 missense_variant 6.164291 0.938 0.77011 0.554377 0.9987022 0 1.993153e-56 FALSE 7.31095e-05 ENSE00001597290_016 ENSE00001597290 016 2 28836841 28837010 + 57 66 47 C T 28836909 806 69 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTTCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA 28613973 28614143 28614041 28614042 28614042 exon 12 0.1818182 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTTCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA mutant NA NA NA NA NA 130 155 0.9424531 0.8019769 0.872215 NA NA 0.9496359 0.9228218 NA NA -0.007182737 -0.1208449 NA 0.9362288 NA -0.06401381 NA FALSE NA 1 3.85 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 44/58 1 NA TCC C,T 8.236e-06 2:28614042 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003621474 synonymous_variant 1.65771 0.92353 0.74306 0.554377 0.7747174 0 1.993153e-56 FALSE 4.06147e-06 ENSE00001597290_022 ENSE00001597290 022 2 28836841 28837010 + 57 66 47 A G 28836946 812 106 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCGTCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA 28613973 28614143 28614078 28614079 28614079 exon -18 0.7424242 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCGTCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA mutant NA NA NA NA NA 17 542 1 0.977766 0.988883 NA NA 0.9496359 0.9228218 NA NA 0.05036412 0.05494422 NA 0.9362288 NA 0.05265417 NA FALSE NA 0 -0.396 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 44/58 1 tolerated(0.37) benign(0.004) NA CAT A,G 8.236e-06 2:28614079 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003621474 missense_variant -0.409761 0.21446 0.01923 0.497415 0.6493781 0 1.993153e-56 FALSE 4.06108e-06 ENSE00001597290_024 ENSE00001597290 024 2 28836841 28837010 + 57 66 47 C A 28836970 814 130 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCACTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA 28613973 28614143 28614102 28614103 28614103 downstr_intron 7 1.152174 CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCACTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA CTCAAGCAAACTTCAGTGCTGTCAGATAACTTCTCCATGTGTTTTTTTTTCTCTTAGAATGAGCCCTTCCTGAGAACCCCTCGGAATAGTAACTACACGTACCCCATCAAGCCAGCCATTGAGGTAACCCCTGACTCACATCTGCCTCTCTCAGACACAAACCATTTCCA mutant NA NA NA NA NA 228 26 1 1 1 NA NA 0.9496359 0.9228218 NA NA 0.05036412 0.07717824 NA 0.9362288 NA 0.06377118 NA FALSE NA 0 -0.83 . splice_region_variant&intron_variant LOW PLB1 HGNC 30041 ENST00000327757 44/57 rs193921064 1 NA CCC C,A 4.118e-05 2:28614103 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003621474 splice_region_variant 0.584789 0.20366 0.04043 0.053691 0.7794792 0.280451 1.993153e-56 FALSE 2.43688e-05 ENSE00001597659_000 ENSE00001597659 000 1 103363628 103363797 - 53 54 63 NA NA NA NA NA AATTTTGTTTTAGAAATTCTCACTTTTTAAATGACTGAAAAGATCTTACTCACCATAGGACCAGGTGGTCCATCTTGGCCTGCAGCTCCAGGGAGACCTTGTTCTCCCTAGAGAAAATAAAAATGATTGATTTTTAAAATTAATAAAATAATACATATTTATTTATTTAT 102898071 102898241 NA NA NA NA NA NA ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT natural NA NA NA NA NA 7262 11815 0.9406217 0.838871 0.8897463 NA NA 0.9406217 0.838871 NA NA 0 0 NA 0.8897463 NA 0 NA FALSE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001597659 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001597659_001 ENSE00001597659 001 1 103363628 103363797 - 53 54 63 A G 103363658 2719 140 AATTTTGTTTTAGAAATTCTCACTTTTTAAGTGACTGAAAAGATCTTACTCACCATAGGACCAGGTGGTCCATCTTGGCCTGCAGCTCCAGGGAGACCTTGTTCTCCCTAGAGAAAATAAAAATGATTGATTTTTAAAATTAATAAAATAATACATATTTATTTATTTAT 102898071 102898241 102898101 102898102 102898102 downstr_intron 23 1.442308 ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCACTTAAAAAGTGAGAATTTCTAAAACAAAATT ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT mutant NA NA NA NA NA 1374 1463 0.9915897 0.9976961 0.9946429 NA NA 0.9406217 0.838871 NA NA 0.05096799 0.1588251 NA 0.8897463 NA 0.1048966 NA FALSE NA 0 -1.206 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 55/64 1 NA AAT A,G 8.255e-06 1:102898102 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001597659 intron_variant 0.061348 0.34112 0.06758 0.074636 0.7275943 0.0455939 0.9999806 TRUE NA ENSE00001597659_002 ENSE00001597659 002 1 103363628 103363797 - 53 54 63 A G 103363668 2720 130 AATTTTGTTTTAGAAATTCTCACTTTTTAAATGACTGAAAGGATCTTACTCACCATAGGACCAGGTGGTCCATCTTGGCCTGCAGCTCCAGGGAGACCTTGTTCTCCCTAGAGAAAATAAAAATGATTGATTTTTAAAATTAATAAAATAATACATATTTATTTATTTAT 102898071 102898241 102898111 102898112 102898112 downstr_intron 13 1.25 ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCCTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT mutant NA NA NA NA NA 452 1758 0.9999089 0.9984839 0.9991964 NA NA 0.9406217 0.838871 NA NA 0.05928724 0.1596129 NA 0.8897463 NA 0.1094501 NA FALSE NA 0 0.64 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:102898112 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001597659 intron_variant 0.266235 0.23685 0.09292 0.074636 0.6524533 0.0455939 0.9999806 TRUE NA ENSE00001597659_005 ENSE00001597659 005 1 103363628 103363797 - 53 54 63 T C 103363683 2723 115 AATTTTGTTTTAGAAATTCTCACTTTTTAAATGACTGAAAAGATCTTACTCACCACAGGACCAGGTGGTCCATCTTGGCCTGCAGCTCCAGGGAGACCTTGTTCTCCCTAGAGAAAATAAAAATGATTGATTTTTAAAATTAATAAAATAATACATATTTATTTATTTAT 102898071 102898241 102898126 102898127 102898127 exon -3 0.962963 ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTGTGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT mutant NA NA NA NA NA 894 1074 0.8985165 0.9907912 0.9446539 NA NA 0.9406217 0.838871 NA NA -0.04210514 0.1519202 NA 0.8897463 NA 0.05490751 NA FALSE NA 0 -0.195 . missense_variant&splice_region_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 55/65 1 unknown(0) NA ATA T,C 8.248e-06 1:102898127 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001597659 missense_variant -1.11924 0.22186 0.09112 0.693126 0.3704511 0 0.9999806 TRUE NA ENSE00001597659_006 ENSE00001597659 006 1 103363628 103363797 - 53 54 63 T C 103363700 2724 98 AATTTTGTTTTAGAAATTCTCACTTTTTAAATGACTGAAAAGATCTTACTCACCATAGGACCAGGTGGTCCACCTTGGCCTGCAGCTCCAGGGAGACCTTGTTCTCCCTAGAGAAAATAAAAATGATTGATTTTTAAAATTAATAAAATAATACATATTTATTTATTTAT 102898071 102898241 102898143 102898144 102898144 exon -20 0.6481481 ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGGTGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT mutant NA NA NA NA NA 575 210 1 0.9931607 0.9965804 NA NA 0.9406217 0.838871 NA NA 0.05937832 0.1542897 NA 0.8897463 NA 0.106834 NA FALSE NA 1 5.004 rs137860254 missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 55/65 rs137860254 1 unknown(0) NA C:0 C:0.0001 ATC T,C 1.65e-05 1:102898144 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001597659 missense_variant 3.556819 0.98664 0.97909 0.693126 0.9783273 0 0.9999806 TRUE NA ENSE00001597659_009 ENSE00001597659 009 1 103363628 103363797 - 53 54 63 G A 103363738 2727 60 AATTTTGTTTTAGAAATTCTCACTTTTTAAATGACTGAAAAGATCTTACTCACCATAGGACCAGGTGGTCCATCTTGGCCTGCAGCTCCAGGGAGACCTTGTTCTCCCTAAAGAAAATAAAAATGATTGATTTTTAAAATTAATAAAATAATACATATTTATTTATTTAT 102898071 102898241 102898181 102898182 102898182 upstr_intron -4 -0.04761905 ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTTTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT mutant NA NA NA NA NA 316 601 0.9966381 0.9478077 0.9722229 NA NA 0.9406217 0.838871 NA NA 0.05601644 0.1089367 NA 0.8897463 NA 0.08247658 NA FALSE NA 0.002 -0.764 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 54/64 rs560690662 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGA G,A 8.456e-06 1:102898182 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001597659 splice_region_variant 0.406341 0.19216 0.02075 0.061011 0.5434168 0.050703 0.9999806 TRUE 8.42914e-06 ENSE00001597659_BRK ENSE00001597659 BRK 1 103363628 103363797 - 53 54 63 A,G; T,T NA NA NA AATTTTGTTTTAGAAATTCTCACTTTTTAAATGACTGAAAAGATCTTACTCGGCATAGGACCAGGTGGTCCATCTTGGCCTGCAGCTCCAGGGAGACCTTGTTCTCCAAAGAGAAAATAAAAATGATTGATTTTTAAAATTAATAAAATAATACATATTTATTTATTTAT 102898071 102898241 NA NA NA NA NA NA ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTTTGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGCCGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT ATAAATAAATAAATATGTATTATTTTATTAATTTTAAAAATCAATCATTTTTATTTTCTCTAGGGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATGGTGAGTAAGATCTTTTCAGTCATTTAAAAAGTGAGAATTTCTAAAACAAAATT control NA NA NA NA NA 479 1235 0.05338145 0 0.02669072 NA NA 0.9406217 0.838871 NA NA -0.8872402 -0.838871 NA 0.8897463 NA -0.8630556 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001597659 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001597828_000 ENSE00001597828 000 10 133962875 133963044 + 41 99 30 NA NA NA NA NA GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 NA NA NA NA NA NA ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC natural NA NA NA NA NA 991 1078 0.9968928 0.9873483 0.9921205 NA NA 0.9968928 0.9873483 NA NA 0 0 NA 0.9921205 NA 0 NA FALSE NA NA NA NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003588532 NA NA NA NA NA NA NA 0.05393183 FALSE NA ENSE00001597828_001 ENSE00001597828 001 10 133962875 133963044 + 41 99 30 C T 133962887 2985 13 ATGGGAGGGGAGTGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149382 132149383 132149383 upstr_intron -29 -0.6829268 ATGGGAGGGGAGTGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 1078 94 0.999541 1 0.9997705 NA NA 0.9968928 0.9873483 NA NA 0.002648235 0.01265165 NA 0.9921205 NA 0.007649945 NA FALSE NA 0 -0.541 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/13 rs370351597 1 NA T:0.0011 T:0 GCG C,T 7.535e-05 10:132149383 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 intron_variant 0.258256 0.08277 0.00479 0.056701 0.5337092 0.0920624 0.05393183 FALSE 0.000109702 ENSE00001597828_002 ENSE00001597828 002 10 133962875 133963044 + 41 99 30 G A 133962888 2986 14 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCTGCTCCCCTCCCAT 132149370 132149540 132149383 132149384 132149384 upstr_intron -28 -0.6585366 ATGGGAGGGGAGCAGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 64 847 1 0.9974561 0.998728 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.01010771 NA 0.9921205 NA 0.006607476 NA FALSE NA 0 -4.202 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/13 rs373816287 1 NA A:0 A:0.0004 CGG G,A 8.368e-05 10:132149384 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 intron_variant -0.046184 0.07957 0.00067 0.056701 0.6095809 0.0920624 0.05393183 FALSE 0.000100611 ENSE00001597828_003 ENSE00001597828 003 10 133962875 133963044 + 41 99 30 G C 133962889 2987 15 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGGCGCTCCCCTCCCAT 132149370 132149540 132149384 132149385 132149385 upstr_intron -27 -0.6341463 ATGGGAGGGGAGCGCCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 847 15 0.9986316 0.8761632 0.9373974 NA NA 0.9968928 0.9873483 NA NA 0.001738803 -0.1111852 NA 0.9921205 NA -0.05472317 NA FALSE NA 0 0.095 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/13 rs540468289 1 C:0.0022 C:0 C:0 NA C:0.001 C:0 C:0.0102 GGC G,C 0.0007528 10:132149385 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 intron_variant 0.063584 0.16298 0.06469 0.056701 0.7744913 0.0920624 0.05393183 FALSE 0.000911612 ENSE00001597828_005 ENSE00001597828 005 10 133962875 133963044 + 41 99 30 C T 133962903 2989 29 ATGGGAGGGGAGCGGCTCACCCTTCTGTTCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149398 132149399 132149399 upstr_intron -13 -0.2926829 ATGGGAGGGGAGCGGCTCACCCTTCTGTTCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 176 647 1 0.9965752 0.9982876 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.009226834 NA 0.9921205 NA 0.00616704 NA FALSE NA 0.001 0.223 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/13 1 NA TCC C,T 3.333e-05 10:132149399 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 intron_variant 0.348617 0.12373 0.00378 0.056701 0.6113262 0.147788 0.05393183 FALSE 3.36849e-05 ENSE00001597828_006 ENSE00001597828 006 10 133962875 133963044 + 41 99 30 C T 133962907 2990 33 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTTTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149402 132149403 132149403 upstr_intron -9 -0.195122 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTTTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 471 1338 0.9956281 0.9960384 0.9958333 NA NA 0.9968928 0.9873483 NA NA -0.001264657 0.008690061 NA 0.9921205 NA 0.003712702 NA FALSE NA 0.02 -0.273 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/13 1 NA TCT C,T 8.33e-06 10:132149403 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 intron_variant 0.305964 0.16102 0.03458 0.056701 0.5888801 0.143816 0.05393183 FALSE 1.41642e-05 ENSE00001597828_007 ENSE00001597828 007 10 133962875 133963044 + 41 99 30 G A 133962909 2991 35 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGATAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149404 132149405 132149405 upstr_intron -7 -0.1463415 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTATCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 254 1254 1 1 1 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.01265165 NA 0.9921205 NA 0.00787945 NA FALSE NA 0.22 1.043 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132149405 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 splice_region_variant 0.065819 0.23667 0.17917 0.056701 0.6227226 0.165978 0.05393183 FALSE 4.67006e-06 ENSE00001597828_008 ENSE00001597828 008 10 133962875 133963044 + 41 99 30 G C 133962909 2992 35 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGAGAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149404 132149405 132149405 upstr_intron -7 -0.1463415 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTCTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 123 412 0.9654096 1 0.9827048 NA NA 0.9968928 0.9873483 NA NA -0.03148312 0.01265165 NA 0.9921205 NA -0.009415731 NA FALSE NA 0.22 1.043 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003588532 splice_region_variant -0.072193 0.236 0.26743 0.056701 0.6010795 0.165978 0.05393183 FALSE 9.34012e-06 ENSE00001597828_009 ENSE00001597828 009 10 133962875 133963044 + 41 99 30 G A 133962924 2993 50 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTTTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149419 132149420 132149420 exon 9 0.09090909 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAAAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 680 226 0.999697 0.9998314 0.9997642 NA NA 0.9968928 0.9873483 NA NA 0.002804254 0.01248308 NA 0.9921205 NA 0.007643669 NA FALSE NA 0.998 0.672 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 1 NA AGA G,A 8.319e-06 10:132149420 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 synonymous_variant 1.043243 0.93281 0.36082 0.646311 0.8388388 0 0.05393183 FALSE NA ENSE00001597828_010 ENSE00001597828 010 10 133962875 133963044 + 41 99 30 G T 133962937 2994 63 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCTCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149432 132149433 132149433 exon 22 0.2222222 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCTCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 51 945 1 0.9979606 0.9989803 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.0106123 NA 0.9921205 NA 0.006859773 NA FALSE NA 1 4.482 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132149433 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 missense_variant 4.096227 0.96285 0.93501 0.646311 0.9962572 0 0.05393183 FALSE 0.000103506 ENSE00001597828_012 ENSE00001597828 012 10 133962875 133963044 + 41 99 30 C T 133962945 2996 71 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGTTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149440 132149441 132149441 exon 30 0.3030303 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGTTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 236 818 0.9968183 0.999346 0.9980821 NA NA 0.9968928 0.9873483 NA NA -7.449953e-05 0.01199764 NA 0.9921205 NA 0.005961573 NA FALSE NA 0.999 0.893 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 1 NA GCT C,T 8.308e-06 10:132149441 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 synonymous_variant 1.475359 0.96096 0.78657 0.646311 0.8986465 0 0.05393183 FALSE NA ENSE00001597828_013 ENSE00001597828 013 10 133962875 133963044 + 41 99 30 A G 133962950 2997 76 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCGCCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149445 132149446 132149446 exon 35 0.3535354 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCGCCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 201 175 0.9973075 0.9997822 0.9985449 NA NA 0.9968928 0.9873483 NA NA 0.0004147811 0.01243389 NA 0.9921205 NA 0.006424336 NA FALSE NA 1 5.165 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 1 NA CAC A,G 8.307e-06 10:132149446 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 missense_variant 1.412262 0.97126 0.94067 0.646311 0.946309 0 0.05393183 FALSE 4.24711e-06 ENSE00001597828_014 ENSE00001597828 014 10 133962875 133963044 + 41 99 30 C T 133962956 2998 82 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACATGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149451 132149452 132149452 exon 41 0.4141414 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACATGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 78 1346 0.9980295 0.9999717 0.9990006 NA NA 0.9968928 0.9873483 NA NA 0.001136755 0.01262338 NA 0.9921205 NA 0.006880066 NA FALSE NA 0.008 0.825 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 1 NA ACG C,T 4.985e-05 10:132149452 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 missense_variant 2.379635 0.14999 0.01084 0.646311 0.979282 0 0.05393183 FALSE 3.3974e-05 ENSE00001597828_015 ENSE00001597828 015 10 133962875 133963044 + 41 99 30 G A 133962957 2999 83 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGTGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149452 132149453 132149453 exon 42 0.4242424 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACACCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 283 111 0.9983893 0.9985725 0.9984809 NA NA 0.9968928 0.9873483 NA NA 0.001496572 0.01122417 NA 0.9921205 NA 0.006360373 NA FALSE NA 0 -4.469 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132149453 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 synonymous_variant 1.523757 0.11579 0.01981 0.646311 0.917932 0 0.05393183 FALSE 4.67683e-05 ENSE00001597828_016 ENSE00001597828 016 10 133962875 133963044 + 41 99 30 G C 133962957 3000 83 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGGGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149452 132149453 132149453 exon 42 0.4242424 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACCCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 454 11 1 1 1 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.01265165 NA 0.9921205 NA 0.00787945 NA FALSE NA 0 -4.469 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003588532 synonymous_variant 0.757105 0.10856 0.0071 0.646311 0.7146973 0 0.05393183 FALSE 4.25166e-06 ENSE00001597828_018 ENSE00001597828 018 10 133962875 133963044 + 41 99 30 C T 133962963 3002 89 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTTGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149458 132149459 132149459 exon 48 0.4848485 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTTGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 1127 1058 0.9993409 0.9995513 0.9994461 NA NA 0.9968928 0.9873483 NA NA 0.002448099 0.01220294 NA 0.9921205 NA 0.007325521 NA FALSE NA 0.928 -0.057 rs143153948 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 rs143153948 1 NA T:0.0007 T:0 TCG C,T 8.31e-05 10:132149459 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 synonymous_variant 2.159847 0.92708 0.2758 0.646311 0.9136443 0 0.05393183 FALSE 7.23669e-05 ENSE00001597828_019 ENSE00001597828 019 10 133962875 133963044 + 41 99 30 C T 133962969 3003 95 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGATGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149464 132149465 132149465 exon -46 0.5454545 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGATGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 189 351 0.994275 1 0.9971375 NA NA 0.9968928 0.9873483 NA NA -0.002617795 0.01265165 NA 0.9921205 NA 0.00501693 NA FALSE NA 0 -2.098 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 rs369054799 1 NA T:0 T:0.0001 ACG C,T 2.494e-05 10:132149465 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 synonymous_variant 1.820761 0.83742 0.03755 0.646311 0.9193951 0 0.05393183 FALSE 4.28064e-05 ENSE00001597828_021 ENSE00001597828 021 10 133962875 133963044 + 41 99 30 G C 133962971 3005 97 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCGCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149466 132149467 132149467 exon -44 0.5656566 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGCGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 41 1435 1 0.9998898 0.9999449 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.01254143 NA 0.9921205 NA 0.007824337 NA FALSE NA 1 6.811 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 1 NA GGG G,C 8.313e-06 10:132149467 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 missense_variant 4.470308 0.97798 0.97789 0.646311 0.996038 0 0.05393183 FALSE NA ENSE00001597828_022 ENSE00001597828 022 10 133962875 133963044 + 41 99 30 C T 133962996 3006 122 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGTGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149491 132149492 132149492 exon -19 0.8181818 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGTGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 408 742 0.9934807 0.9991751 0.9963279 NA NA 0.9968928 0.9873483 NA NA -0.003412071 0.01182678 NA 0.9921205 NA 0.004207354 NA FALSE NA 0.076 -0.955 rs150346687 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 rs150346687 1 T:0.0032 T:0.0121 T:0 NA T:0 T:0 T:0 T:0.0044 T:0 GCG C,T 0.0004833 10:132149492 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 synonymous_variant 1.779881 0.90364 0.02317 0.646311 0.9227201 0 0.05393183 FALSE 0.000432396 ENSE00001597828_023 ENSE00001597828 023 10 133962875 133963044 + 41 99 30 C G 133963002 3007 128 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACACCTTCCGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149497 132149498 132149498 exon -13 0.8787879 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCGGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 49 213 0.8928858 0.9946444 0.9437651 NA NA 0.9968928 0.9873483 NA NA -0.104007 0.00729606 NA 0.9921205 NA -0.04835546 NA FALSE NA 0 -4.264 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132149498 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 synonymous_variant 1.713244 0.7993 0.02022 0.646311 0.6523359 0 0.05393183 FALSE 4.70026e-06 ENSE00001597828_024 ENSE00001597828 024 10 133962875 133963044 + 41 99 30 C T 133963002 3008 128 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCTGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149497 132149498 132149498 exon -13 0.8787879 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCTGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 120 328 1 0.9998839 0.9999419 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.01253554 NA 0.9921205 NA 0.007821395 NA FALSE NA 0 -4.264 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003588532 synonymous_variant 2.365563 0.79381 0.01865 0.646311 0.8908013 0 0.05393183 FALSE 2.82016e-05 ENSE00001597828_025 ENSE00001597828 025 10 133962875 133963044 + 41 99 30 A T 133963004 3009 130 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGTAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149499 132149500 132149500 exon -11 0.8989899 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGTAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 51 205 1 1 1 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.01265165 NA 0.9921205 NA 0.00787945 NA FALSE NA 1 8.083 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 1 NA GAA A,T 8.351e-06 10:132149500 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 missense_variant 5.883418 0.98244 0.98704 0.646311 0.990284 0 0.05393183 FALSE NA ENSE00001597828_026 ENSE00001597828 026 10 133962875 133963044 + 41 99 30 T A 133963008 3010 134 GGCGGAGTGGGCAGGAGGGGCGGGACTCACCGTCACTCCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149503 132149504 132149504 exon -7 0.9393939 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGAGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 202 343 1 0.9586646 0.9793323 NA NA 0.9968928 0.9873483 NA NA 0.003107245 -0.02868379 NA 0.9921205 NA -0.01278827 NA FALSE NA 0.945 -0.295 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/14 1 NA GTG C,A 8.369e-06 10:132149504 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 synonymous_variant 0.452594 0.85138 0.26542 0.646311 0.6947692 0 0.05393183 FALSE NA ENSE00001597828_027 ENSE00001597828 027 10 133962875 133963044 + 41 99 30 C T 133963013 3011 139 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGATGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149508 132149509 132149509 exon -2 0.989899 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGATGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 12 237 1 0.9952998 0.9976499 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.007951463 NA 0.9921205 NA 0.005529354 NA FALSE NA 0.986 0.896 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW JAKMIP3 HGNC 23523 ENST00000477275 5/14 rs373056876 1 NA T:0 T:0.0001 ACG C,T 8.444e-06 10:132149509 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 missense_variant 3.23324 0.95955 0.80085 0.646311 0.9977527 0 0.05393183 FALSE 4.92255e-05 ENSE00001597828_028 ENSE00001597828 028 10 133962875 133963044 + 41 99 30 C T 133963023 3012 149 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCTGCCCCTCCTGCCCACTCCGCC 132149370 132149540 132149518 132149519 132149519 downstr_intron 9 1.310345 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCTGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 14 242 1 1 1 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.01265165 NA 0.9921205 NA 0.00787945 NA FALSE NA 0 -0.176 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132149519 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 intron_variant 0.548134 0.14907 0.00616 0.056701 0.8413549 0.0855861 0.05393183 FALSE 0.000205108 ENSE00001597828_029 ENSE00001597828 029 10 133962875 133963044 + 41 99 30 C G 133963023 3013 149 GGCGGAGTGGGCAGGAGGGGCCGGACTCACCGTCACACCTTCGGCCTCGCAGTACACCTGGAGGGGGCTCTTCCCGTCCACGAAGGGCGTGTGGTGGAAGCTGATGGCGGGTGACTTCCTCTCCCTCTCCTAGGACAGAGGGACAGAAGGGTGAGCCGCTCCCCTCCCAT 132149370 132149540 132149518 132149519 132149519 downstr_intron 9 1.310345 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCGGCCCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 101 800 1 1 1 NA NA 0.9968928 0.9873483 NA NA 0.003107245 0.01265165 NA 0.9921205 NA 0.00787945 NA FALSE NA 0 -0.176 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003588532 intron_variant 0.301098 0.15747 0.00826 0.056701 0.6122552 0.0855861 0.05393183 FALSE 6.61638e-06 ENSE00001597828_030 ENSE00001597828 030 10 133962875 133963044 + 41 99 30 C T 133963026 3014 152 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCTCCTCCTGCCCACTCCGCC 132149370 132149540 132149521 132149522 132149522 downstr_intron 12 1.413793 ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCTCCTCCTGCCCACTCCGCC ATGGGAGGGGAGCGGCTCACCCTTCTGTCCCTCTGTCCTAGGAGAGGGAGAGGAAGTCACCCGCCATCAGCTTCCACCACACGCCCTTCGTGGACGGGAAGAGCCCCCTCCAGGTGTACTGCGAGGCCGAAGGTGTGACGGTGAGTCCCGCCCCTCCTGCCCACTCCGCC mutant NA NA NA NA NA 1128 881 0.9956641 0.9992622 0.9974632 NA NA 0.9968928 0.9873483 NA NA -0.001228625 0.0119139 NA 0.9921205 NA 0.005342639 NA FALSE NA 0 0.44 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 5/13 1 NA CCC C,T 8.995e-06 10:132149522 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003588532 intron_variant 0.395682 0.19931 0.00232 0.056701 0.9380662 0.0855861 0.05393183 FALSE NA ENSE00001597968_000 ENSE00001597968 000 2 28855769 28855938 + 42 96 32 NA NA NA NA NA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 NA NA NA NA NA NA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA natural NA NA NA NA NA 500 905 0.9880936 0.9455881 0.9668409 NA NA 0.9880936 0.9455881 NA NA 0 0 NA 0.9668409 NA 0 NA FALSE NA NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003624512 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001597968_011 ENSE00001597968 011 2 28855769 28855938 + 42 96 32 G A 28855841 870 73 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCAAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28632973 28632974 28632974 exon 31 0.3229167 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCAAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 88 155 0.9236277 0.9768656 0.9502467 NA NA 0.9880936 0.9455881 NA NA -0.06446588 0.03127749 NA 0.9668409 NA -0.01659419 NA FALSE NA 0.359 2.392 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 rs373797644 1 NA A:0.0002 A:0 CGA G,A 3.295e-05 2:28632974 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 missense_variant 5.477155 0.97971 0.74966 0.487112 0.9990979 0 1.993153e-56 FALSE 2.43698e-05 ENSE00001597968_013 ENSE00001597968 013 2 28855769 28855938 + 42 96 32 T G 28855850 872 82 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTGTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28632982 28632983 28632983 exon 40 0.4166667 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTGTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 66 108 0 0 0 NA NA 0.9880936 0.9455881 NA NA -0.9880936 -0.9455881 NA 0.9668409 NA -0.9668409 NA TRUE NA 0.992 0.84 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 rs367597002 1 NA G:0.0002 G:0 TTT T,G 1.647e-05 2:28632983 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 missense_variant 5.388113 0.96277 0.76457 0.487112 0.9887448 0 1.993153e-56 FALSE 8.12295e-06 ENSE00001597968_014 ENSE00001597968 014 2 28855769 28855938 + 42 96 32 C G 28855855 873 87 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCAGTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28632987 28632988 28632988 exon 45 0.46875 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCAGTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 249 136 0 0 0 NA NA 0.9880936 0.9455881 NA NA -0.9880936 -0.9455881 NA 0.9668409 NA -0.9668409 NA TRUE NA 1 1.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28632988 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 missense_variant 5.311973 0.96761 0.82372 0.554377 0.9963904 0 1.993153e-56 FALSE 2.03074e-05 ENSE00001597968_015 ENSE00001597968 015 2 28855769 28855938 + 42 96 32 C T 28855855 874 87 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCATTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28632987 28632988 28632988 exon 45 0.46875 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCATTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 66 118 0.880304 0.9469281 0.913616 NA NA 0.9880936 0.9455881 NA NA -0.1077896 0.001339938 NA 0.9668409 NA -0.05322484 NA FALSE NA 1 1.512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003624512 synonymous_variant 0.911831 0.96455 0.67162 0.554377 0.7858349 0 1.993153e-56 FALSE 4.06147e-06 ENSE00001597968_018 ENSE00001597968 018 2 28855769 28855938 + 42 96 32 C T 28855865 877 97 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACTGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28632997 28632998 28632998 exon -42 0.5729167 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACTGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 29 316 1 0.9970442 0.9985221 NA NA 0.9880936 0.9455881 NA NA 0.01190641 0.05145611 NA 0.9668409 NA 0.03168126 NA FALSE NA 0.998 1.398 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28632998 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 missense_variant 6.181089 0.7091 0.61981 0.554377 0.9991564 0 1.993153e-56 FALSE 7.31101e-05 ENSE00001597968_022 ENSE00001597968 022 2 28855769 28855938 + 42 96 32 C T 28855876 881 108 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCTGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28633008 28633009 28633009 exon -31 0.6875 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCTGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 358 235 0.9983794 1 0.9991897 NA NA 0.9880936 0.9455881 NA NA 0.01028585 0.05441188 NA 0.9668409 NA 0.03234887 NA FALSE NA 0 -7.162 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 COSM575032&COSM1142593 1 NA CCG C,T 8.236e-06 2:28633009 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 synonymous_variant 1.444314 0.03052 0.00209 0.554377 0.8875239 0 1.993153e-56 FALSE 1.62492e-05 ENSE00001597968_026 ENSE00001597968 026 2 28855769 28855938 + 42 96 32 C G 28855888 885 120 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATGGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28633020 28633021 28633021 exon -19 0.8125 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATGGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 184 193 0.09113247 0.1764221 0.1337773 NA NA 0.9880936 0.9455881 NA NA -0.8969611 -0.769166 NA 0.9668409 NA -0.8330636 NA TRUE NA 0.351 -0.615 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28633021 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 missense_variant 2.522239 0.46186 0.15722 0.554377 0.9819167 0 1.993153e-56 FALSE 4.06408e-06 ENSE00001597968_028 ENSE00001597968 028 2 28855769 28855938 + 42 96 32 C T 28855892 887 124 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCATTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28633024 28633025 28633025 exon -15 0.8541667 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCATTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 345 298 0.9946263 1 0.9973131 NA NA 0.9880936 0.9455881 NA NA 0.006532709 0.05441188 NA 0.9668409 NA 0.03047229 NA FALSE NA 0.996 3.721 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 1 NA ACT C,T 8.236e-06 2:28633025 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 missense_variant 4.944846 0.98358 0.89765 0.554377 0.9987801 0 1.993153e-56 FALSE 8.13815e-06 ENSE00001597968_029 ENSE00001597968 029 2 28855769 28855938 + 42 96 32 C G 28855894 888 126 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTGTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28633026 28633027 28633027 exon -13 0.875 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTGTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 166 125 1 1 1 NA NA 0.9880936 0.9455881 NA NA 0.01190641 0.05441188 NA 0.9668409 NA 0.03315915 NA FALSE NA 1 0.736 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 rs373910705 1 NA G:0.0002 G:0 TCT C,G 8.236e-06 2:28633027 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 synonymous_variant 1.09021 0.96545 0.66059 0.554377 0.6980719 0 1.993153e-56 FALSE 8.1483e-06 ENSE00001597968_033 ENSE00001597968 033 2 28855769 28855938 + 42 96 32 G A 28855911 892 143 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAACAGCCAAGGCCTGGTGGGCCTTGTCAA 28632901 28633072 28633043 28633044 28633044 downstr_intron 5 1.16129 AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAACAGCCAAGGCCTGGTGGGCCTTGTCAA AGCCCTTTCCCAGGATGATAACCTCCTTGCCGTTGGTTGCAGAGAGGGGACACTGACCTCACCTTCTTCTCCGAGGACTGTTTTCACTTCTCAGACCGCGGGCATGCCGAGATGGCCATCGCACTCTGGAACAACATGGTGAGCAGCCAAGGCCTGGTGGGCCTTGTCAA mutant NA NA NA NA NA 57 14 0 0.02385878 0.01192939 NA NA 0.9880936 0.9455881 NA NA -0.9880936 -0.9217293 NA 0.9668409 NA -0.9549115 NA TRUE NA 1 6.631 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 1 NA AGC G,A 1.023e-05 2:28633044 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003624512 splice_region_variant 1.123617 0.98262 0.98179 0.053691 0.8649044 0.965105 1.993153e-56 FALSE 0.000164727 ENSE00001598152_000 ENSE00001598152 000 22 28269685 28269854 - 41 78 51 NA NA NA NA NA AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA 27873696 27873866 NA NA NA NA NA NA AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA natural 16 14 1 0.9445125 0.9722563 2288 1613 0.8150472 0.8584684 0.8367578 1 0.9445125 0.8150472 0.8584684 0 0 0 0 0.9722563 0.8367578 0 0 0 FALSE FALSE NA NA NA NA NA PITPNB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PITPNB NA NA NA ENSG00000180957 ENSE00003623733 NA NA NA NA NA NA NA 0.974445 TRUE NA ENSE00001598152_005 ENSE00001598152 005 22 28269685 28269854 - 41 78 51 C T 28269741 378 114 AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTAGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA 27873696 27873866 27873752 27873753 27873753 exon -16 0.8076923 AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTAGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA mutant NA NA NA NA NA 82 79 1 1 1 1 0.9445125 0.8150472 0.8584684 NA NA 0.1849528 0.1415316 0.9722563 0.8367578 NA 0.1632422 NA FALSE NA 1 2.531 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PITPNB HGNC 9002 ENST00000477861 5/8 rs531603937 1 T:0.0018 T:0 T:0 NA T:0 T:0 T:0.0092 CCA C,T 0.0006836 22:27873753 PITPNB HGNC Symbol protein_coding 68465 ENSG00000180957 ENSE00003623733 synonymous_variant 1.913654 0.98638 0.89464 0.732398 0.7924948 0 0.974445 TRUE 0.000646783 ENSE00001598152_011 ENSE00001598152 011 22 28269685 28269854 - 41 78 51 G A 28269798 384 57 AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTATAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA 27873696 27873866 27873809 27873810 27873810 exon 6 0.07692308 AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTATAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA mutant NA NA NA NA NA 78 1218 0.9468894 0.9972991 0.9720943 1 0.9445125 0.8150472 0.8584684 NA NA 0.1318422 0.1388308 0.9722563 0.8367578 NA 0.1353365 NA FALSE NA 1 1.144 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PITPNB HGNC 9002 ENST00000477861 5/8 rs202070823 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 8.236e-06 22:27873810 PITPNB HGNC Symbol protein_coding 68465 ENSG00000180957 ENSE00003623733 synonymous_variant 0.456168 0.96572 0.83149 0.732398 0.5022412 0 0.974445 TRUE 8.13762e-06 ENSE00001598152_012 ENSE00001598152 012 22 28269685 28269854 - 41 78 51 C A 28269807 385 48 AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTTCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA 27873696 27873866 27873818 27873819 27873819 upstr_intron -4 -0.05882353 AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTTCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA mutant NA NA NA NA NA 191 25 1 1 1 1 0.9445125 0.8150472 0.8584684 NA NA 0.1849528 0.1415316 0.9722563 0.8367578 NA 0.1632422 NA FALSE NA 0.845 -0.333 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PITPNB HGNC 9002 ENST00000477861 4/7 1 NA GCA C,A 8.237e-06 22:27873819 PITPNB HGNC Symbol protein_coding 68465 ENSG00000180957 ENSE00003623733 splice_region_variant 1.901468 0.96663 0.59805 0.106106 0.7827955 0.438205 0.974445 TRUE NA ENSE00001598152_013 ENSE00001598152 013 22 28269685 28269854 - 41 78 51 G A 28269811 386 44 AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGTTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA 27873696 27873866 27873822 27873823 27873823 upstr_intron -8 -0.1372549 AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGTTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA mutant NA NA NA NA NA 66 126 1 0.8020031 0.9010016 1 0.9445125 0.8150472 0.8584684 NA NA 0.1849528 -0.05646524 0.9722563 0.8367578 NA 0.06424375 NA FALSE NA 0.877 0.162 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PITPNB HGNC 9002 ENST00000477861 4/7 1 NA AGC G,A 8.237e-06 22:27873823 PITPNB HGNC Symbol protein_coding 68465 ENSG00000180957 ENSE00003623733 splice_region_variant 1.735251 0.95469 0.38137 0.106106 0.7643521 0.434099 0.974445 TRUE 4.07209e-06 ENSE00001598152_014 ENSE00001598152 014 22 28269685 28269854 - 41 78 51 A G 28269838 387 17 AGAATATTCTCTGGTTCTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA 27873696 27873866 27873849 27873850 27873850 upstr_intron -35 -0.6666667 AGAATATTCTCTGGTTCTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA AGAATATTCTCTGGTTTTCTTCTCTGCCTCTGACTTTGTTTTGCTTTGCAGGACTACAAAGCTGATGAAGACCCAGCATTATTCCAGTCAGTCAAGACCAAGAGAGGCCCTTTGGGACCCAACTGGAAGGTACTGGATGCTGACCTTTCTGACAGGCAGAGTCTTGGCAA mutant NA NA NA NA NA 50 101 1 0.9851729 0.9925864 1 0.9445125 0.8150472 0.8584684 NA NA 0.1849528 0.1267045 0.9722563 0.8367578 NA 0.1558286 NA FALSE NA 0.037 2.918 . intron_variant&non_coding_transcript_variant MODIFIER PITPNB HGNC 9002 ENST00000477861 4/7 rs201334050 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAA A,G 8.237e-06 22:27873850 PITPNB HGNC Symbol protein_coding 68465 ENSG00000180957 ENSE00003623733 intron_variant 2.684461 0.24249 0.47032 0.106106 0.7704062 0.81398 0.974445 TRUE 4.11191e-06 ENSE00001598578_000 ENSE00001598578 000 3 48929380 48929549 - 33 93 44 NA NA NA NA NA GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC 48891946 48892116 NA NA NA NA NA NA GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC natural 50 21 0.9998348 0.9978018 0.9988183 4333 1314 0.7951194 0.8026881 0.7989038 0.9998348 0.9978018 0.7951194 0.8026881 0 0 0 0 0.9988183 0.7989038 0 0 0 FALSE FALSE NA NA NA NA NA SLC25A20 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC25A20 NA NA NA ENSG00000178537 ENSE00003641024 NA NA NA NA NA NA NA 2.045668e-07 FALSE NA ENSE00001598578_001 ENSE00001598578 001 3 48929380 48929549 - 33 93 44 C A 48929394 1084 156 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGTCATTCCTCTTACTC 48891946 48892116 48891960 48891961 48891961 downstr_intron 19 1.59375 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGTCATTCCTCTTACTC GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC mutant NA NA NA NA NA 1265 655 0.9983886 0.9999419 0.9991652 0.9998348 0.9978018 0.7951194 0.8026881 NA NA 0.2032692 0.1972538 0.9988183 0.7989038 NA 0.2002615 NA FALSE NA 0 -0.105 . intron_variant MODIFIER SLC25A20 HGNC 1421 ENST00000544097 3/9 rs199753606 1 NA GCC C,A 8.236e-06 3:48891961 SLC25A20 HGNC Symbol protein_coding 42062 ENSG00000178537 ENSE00003641024 intron_variant 1.990222 0.19928 0.11889 0.162113 0.8614839 0.199275 2.045668e-07 FALSE 1.21819e-05 ENSE00001598578_002 ENSE00001598578 002 3 48929380 48929549 - 33 93 44 C T 48929399 1085 151 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTACTGGGCATTCCTCTTACTC 48891946 48892116 48891965 48891966 48891966 downstr_intron 14 1.4375 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTACTGGGCATTCCTCTTACTC GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC mutant NA NA NA NA NA 1983 916 0.9998754 0.9998273 0.9998514 0.9998348 0.9978018 0.7951194 0.8026881 NA NA 0.204756 0.1971392 0.9988183 0.7989038 NA 0.2009476 NA FALSE NA 0 0.402 . intron_variant MODIFIER SLC25A20 HGNC 1421 ENST00000544097 3/9 1 NA GCA C,T 8.236e-06 3:48891966 SLC25A20 HGNC Symbol protein_coding 42062 ENSG00000178537 ENSE00003641024 intron_variant 2.057658 0.29874 0.10479 0.162113 0.866274 0.199275 2.045668e-07 FALSE 8.12117e-06 ENSE00001598578_007 ENSE00001598578 007 3 48929380 48929549 - 33 93 44 G A 48929433 1090 117 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCTGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC 48891946 48892116 48891999 48892000 48892000 exon -21 0.7849462 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCTGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC mutant NA NA NA NA NA 393 186 0.9948113 1 0.9974056 0.9998348 0.9978018 0.7951194 0.8026881 NA NA 0.1996919 0.1973119 0.9988183 0.7989038 NA 0.1985019 NA FALSE NA 1 3.708 . missense_variant MODERATE SLC25A20 HGNC 1421 ENST00000544097 3/10 1 possibly_damaging(0.766) NA CGG G,A 2.471e-05 3:48892000 SLC25A20 HGNC Symbol protein_coding 42062 ENSG00000178537 ENSE00003641024 missense_variant 7.566575 0.98552 0.88629 0.706298 0.9992497 0 2.045668e-07 FALSE 2.43643e-05 ENSE00001598578_009 ENSE00001598578 009 3 48929380 48929549 - 33 93 44 C T 48929471 1092 79 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGAACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC 48891946 48892116 48892037 48892038 48892038 exon 35 0.3763441 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGAACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC mutant NA NA NA NA NA 242 110 1 1 1 0.9998348 0.9978018 0.7951194 0.8026881 NA NA 0.2048806 0.1973119 0.9988183 0.7989038 NA 0.2010962 NA FALSE NA 1 4.955 . 5_prime_UTR_variant MODIFIER SLC25A20 HGNC 1421 ENST00000544097 3/10 1 NA TCC C,T 3.295e-05 3:48892038 SLC25A20 HGNC Symbol protein_coding 42062 ENSG00000178537 ENSE00003641024 stop_gained 6.516586 0.99242 0.96276 0.706298 0.9938932 0 2.045668e-07 FALSE 2.03037e-05 ENSE00001598578_010 ENSE00001598578 010 3 48929380 48929549 - 33 93 44 C A 48929476 1093 74 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTTCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC 48891946 48892116 48892042 48892043 48892043 exon 30 0.3225806 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTTCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC mutant NA NA NA NA NA 335 1312 0.99379 0.9974592 0.9956246 0.9998348 0.9978018 0.7951194 0.8026881 NA NA 0.1986706 0.1947711 0.9988183 0.7989038 NA 0.1967208 NA FALSE NA 0.492 0.608 . 5_prime_UTR_variant MODIFIER SLC25A20 HGNC 1421 ENST00000544097 3/10 COSM335188 1 NA GCA C,A 0.0001071 3:48892043 SLC25A20 HGNC Symbol protein_coding 42062 ENSG00000178537 ENSE00003641024 missense_variant 2.81287 0.92567 0.25324 0.706298 0.9338566 0 2.045668e-07 FALSE 0.000150246 ENSE00001598578_012 ENSE00001598578 012 3 48929380 48929549 - 33 93 44 G A 48929483 1095 67 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACTGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC 48891946 48892116 48892049 48892050 48892050 exon 23 0.2473118 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACTGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC mutant NA NA NA NA NA 431 178 0.9952677 0.9991105 0.9971891 0.9998348 0.9978018 0.7951194 0.8026881 NA NA 0.2001483 0.1964224 0.9988183 0.7989038 NA 0.1982853 NA FALSE NA 0.491 2.917 . 5_prime_UTR_variant MODIFIER SLC25A20 HGNC 1421 ENST00000544097 3/10 1 NA CGG G,A 8.236e-06 3:48892050 SLC25A20 HGNC Symbol protein_coding 42062 ENSG00000178537 ENSE00003641024 missense_variant 2.022767 0.25281 0.34865 0.706298 0.809842 0 2.045668e-07 FALSE 8.1217e-06 ENSE00001598578_013 ENSE00001598578 013 3 48929380 48929549 - 33 93 44 G A 48929487 1096 63 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGTCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC 48891946 48892116 48892053 48892054 48892054 exon 19 0.2043011 GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGTCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC GTTCTGATTCTGGTAGGTGACTGCATTTTAACTTCTGTTTTCAGGTCCGACTGCAGACACAGCCACCGAGTTTGCCTGGACAACCTCCCATGTACTCTGGGACCTTTGACTGTTTCCGGAAGACTCTTTTTAGAGAGGTTGGTATATGGTGCTGGGCATTCCTCTTACTC mutant NA NA NA NA NA 386 96 0.9949901 1 0.997495 0.9998348 0.9978018 0.7951194 0.8026881 NA NA 0.1998707 0.1973119 0.9988183 0.7989038 NA 0.1985913 NA FALSE NA 1 8.343 . 5_prime_UTR_variant MODIFIER SLC25A20 HGNC 1421 ENST00000544097 3/10 rs367835261 1 NA A:0 A:0.0001 GGC G,A 4.118e-05 3:48892054 SLC25A20 HGNC Symbol protein_coding 42062 ENSG00000178537 ENSE00003641024 missense_variant 3.490477 0.99219 0.98146 0.706298 0.9735458 0 2.045668e-07 FALSE 2.43647e-05 ENSE00001598832_000 ENSE00001598832 000 12 48387724 48387893 - 53 54 63 NA NA NA NA NA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA 47993940 47994110 NA NA NA NA NA NA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA natural 646 997 0.838029 0.8455473 0.8417882 467 85 0.7382182 0.8316474 0.7849328 0.838029 0.8455473 0.7382182 0.8316474 0 0 0 0 0.8417882 0.7849328 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001598832 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001598832_002 ENSE00001598832 002 12 48387724 48387893 - 53 54 63 C T 48387755 1292 139 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGATTGGAAGGAAGAGATGCCTGGTGGGAGAGAA 47993940 47994110 47993971 47993972 47993972 downstr_intron 22 1.423077 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGATTGGAAGGAAGAGATGCCTGGTGGGAGAGAA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA mutant 13 59 0.85 0.85 0.85 201 70 0.8323781 0.8480305 0.8402043 0.838029 0.8455473 0.7382182 0.8316474 0.01197101 0.004452681 0.09415993 0.01638316 0.8417882 0.7849328 0.008211846 0.05527154 0.0470597 FALSE FALSE 0 -0.866 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47993972 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001598832 intron_variant 0.169077 0.21736 0.01731 0.06567 0.6834248 0.044906 1 TRUE 4.06114e-06 ENSE00001598832_005 ENSE00001598832 005 12 48387724 48387893 - 53 54 63 G A 48387766 1295 128 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCATGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA 47993940 47994110 47993982 47993983 47993983 downstr_intron 11 1.211538 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCATGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA mutant 48 57 0.85 0.85 0.85 NA NA NA NA NA 0.838029 0.8455473 0.7382182 0.8316474 0.01197101 0.004452681 NA NA 0.8417882 0.7849328 0.008211846 NA NA NA FALSE 0 -1.154 rs191695664 intron_variant MODIFIER COL2A1 HGNC 2200 ENST00000380518 13/53 rs191695664 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0016 A:0.0001 CGT G,A 0.0001318 12:47993983 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001598832 intron_variant -0.406627 0.16412 0.00346 0.06567 0.4673949 0.077721 1 TRUE 0.000138114 ENSE00001598832_010 ENSE00001598832 010 12 48387724 48387893 - 53 54 63 C T 48387823 1300 71 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCATGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA 47993940 47994110 47994039 47994040 47994040 exon 8 0.1481481 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCATGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA mutant 209 18 0 0 0 NA NA NA NA NA 0.838029 0.8455473 0.7382182 0.8316474 -0.838029 -0.8455473 NA NA 0.8417882 0.7849328 -0.8417882 NA NA NA TRUE 1 7.464 . missense_variant MODERATE COL2A1 HGNC 2200 ENST00000380518 13/54 1 unknown(0) NA ACG C,T 1.647e-05 12:47994040 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001598832 missense_variant 6.339225 0.99552 0.98585 0.648238 0.9979044 0 1 TRUE 8.13968e-06 ENSE00001598832_012 ENSE00001598832 012 12 48387724 48387893 - 53 54 63 G A 48387851 1302 43 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAATACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA 47993940 47994110 47994067 47994068 47994068 upstr_intron -21 -0.3174603 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAATACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA mutant 70 17 0.85 0.85 0.85 NA NA NA NA NA 0.838029 0.8455473 0.7382182 0.8316474 0.01197101 0.004452681 NA NA 0.8417882 0.7849328 0.008211846 NA NA NA FALSE 0 0.692 . intron_variant MODIFIER COL2A1 HGNC 2200 ENST00000380518 12/53 1 NA TGT G,A 8.237e-06 12:47994068 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001598832 intron_variant 0.342241 0.24402 0.01747 0.077785 0.6622509 0.0937141 1 TRUE 4.08741e-06 ENSE00001598832_013 ENSE00001598832 013 12 48387724 48387893 - 53 54 63 C A 48387859 1303 35 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTTCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA 47993940 47994110 47994075 47994076 47994076 upstr_intron -29 -0.4444444 CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTTCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA mutant 35 53 0.85 0.85 0.85 NA NA NA NA NA 0.838029 0.8455473 0.7382182 0.8316474 0.01197101 0.004452681 NA NA 0.8417882 0.7849328 0.008211846 NA NA NA FALSE 0 0.019 . intron_variant MODIFIER COL2A1 HGNC 2200 ENST00000380518 12/53 1 NA GCA C,A 8.237e-06 12:47994076 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001598832 intron_variant 0.40054 0.2686 0.07783 0.077785 0.7541595 0.0937141 1 TRUE 8.19169e-06 ENSE00001598832_014 ENSE00001598832 014 12 48387724 48387893 - 53 54 63 T G 48387871 1304 23 CCCAGGGCAGCTTTCCACTGTTCTTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA 47993940 47994110 47994087 47994088 47994088 upstr_intron -41 -0.6349206 CCCAGGGCAGCTTTCCACTGTTCTTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA CCCAGGGCAGCTTTCCACTGTTATTTTACTCTGTGCTCTGAACACCTCCACTTTGGATTGCAGGGTGCTCGTGGTTTCCCAGGAACCCCAGGCCTTCCTGGTGTCAAAGGTCACAGAGTAAGTATCACGGGTGAGAAGGTTGGAAGGAAGAGATGCCTGGTGGGAGAGAA mutant 27 29 0.85 0.85 0.85 NA NA NA NA NA 0.838029 0.8455473 0.7382182 0.8316474 0.01197101 0.004452681 NA NA 0.8417882 0.7849328 0.008211846 NA NA NA FALSE 0.001 -1.139 . intron_variant MODIFIER COL2A1 HGNC 2200 ENST00000380518 12/53 1 NA ATA T,G 8.237e-06 12:47994088 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001598832 intron_variant -0.026162 0.12876 0.00131 0.077785 0.5485015 0.0443366 1 TRUE 8.21618e-06 ENSE00001600280_000 ENSE00001600280 000 6 30134911 30135080 + 42 96 32 NA NA NA NA NA AAGGAAAAGGTAGCCAGTGACGTGGCCTGTACCAGCAGCACTTGAAGCTTCTGGTCTTCTTGACACTTTACATCCTCAATCTCATCTCTCTCCGTGCTCAGAGCTTCCAGTCGACTCCTGAGACGATCCTGTGGGGAGAAGAATGGGTGGATAGAGGTGACTGAATTAAT 30167133 30167303 NA NA NA NA NA NA ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT natural NA NA NA NA NA 276 474 0.99262 1 0.99631 NA NA 0.99262 1 NA NA 0 0 NA 0.99631 NA 0 NA FALSE NA NA NA NA NA NA TRIM15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM15 NA NA NA ENSG00000204610 ENSE00001600280 NA NA NA NA NA NA NA 2.183509e-11 FALSE NA ENSE00001600280_005 ENSE00001600280 005 6 30134911 30135080 + 42 96 32 A G 30134965 426 55 AAGGAAAAGGTAGCCAGTGACGTGGCCTGTACCAGCAGCACTTGAAGCTTCTGGTCTTCTTGACACTTTACATCCTCAATCTCATCTCTCTCCGTGCTCAGAGCTTCCAGTCGACCCCTGAGACGATCCTGTGGGGAGAAGAATGGGTGGATAGAGGTGACTGAATTAAT 30167133 30167303 30167187 30167188 30167188 exon 13 0.1354167 ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGGGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT mutant NA NA NA NA NA 17 36 1 1 1 NA NA 0.99262 1 NA NA 0.007379971 0 NA 0.99631 NA 0.003689985 NA FALSE NA 0.021 1.343 rs139358870 intron_variant MODIFIER TRIM15 HGNC 16284 ENST00000376688 1/2 rs139358870 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0013 G:0 GAG A,G 0.0001441 6:30167188 TRIM15 HGNC Symbol protein_coding 9490 ENSG00000204610 ENSE00001600280 missense_variant 1.107929 0.97752 0.42899 0.603402 0.9358494 0 2.183509e-11 FALSE 0.000120287 ENSE00001600280_009 ENSE00001600280 009 6 30134911 30135080 + 42 96 32 G A 30134982 430 72 AAGGAAAAGGTAGCCAGTGACGTGGCCTGTACCAGCAGCACTTGAAGCTTCTGGTCTTCTTGACACTTTACATCCTCAATCTCATCTCTCTCCGTGCTTAGAGCTTCCAGTCGACTCCTGAGACGATCCTGTGGGGAGAAGAATGGGTGGATAGAGGTGACTGAATTAAT 30167133 30167303 30167204 30167205 30167205 exon 30 0.3125 ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTAAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT mutant NA NA NA NA NA 135 38 1 1 1 NA NA 0.99262 1 NA NA 0.007379971 0 NA 0.99631 NA 0.003689985 NA FALSE NA 0 -0.015 . intron_variant MODIFIER TRIM15 HGNC 16284 ENST00000376688 1/2 1 NA TGA G,A 8.474e-06 6:30167205 TRIM15 HGNC Symbol protein_coding 9490 ENSG00000204610 ENSE00001600280 synonymous_variant -0.2359 0.23054 0.04804 0.603402 0.4464664 0 2.183509e-11 FALSE 4.14731e-06 ENSE00001600280_012 ENSE00001600280 012 6 30134911 30135080 + 42 96 32 G C 30134991 433 81 AAGGAAAAGGTAGCCAGTGACGTGGCCTGTACCAGCAGCACTTGAAGCTTCTGGTCTTCTTGACACTTTACATCCTCAATCTCATCTCTGTCCGTGCTCAGAGCTTCCAGTCGACTCCTGAGACGATCCTGTGGGGAGAAGAATGGGTGGATAGAGGTGACTGAATTAAT 30167133 30167303 30167213 30167214 30167214 exon 39 0.40625 ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGACAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT mutant NA NA NA NA NA 143 240 1 1 1 NA NA 0.99262 1 NA NA 0.007379971 0 NA 0.99631 NA 0.003689985 NA FALSE NA 0.93 0.013 . intron_variant MODIFIER TRIM15 HGNC 16284 ENST00000376688 1/2 COSM3394044 1 NA AGA G,C 8.473e-06 6:30167214 TRIM15 HGNC Symbol protein_coding 9490 ENSG00000204610 ENSE00001600280 missense_variant 1.420822 0.69516 0.53115 0.603402 0.9806762 0 2.183509e-11 FALSE 4.14683e-06 ENSE00001600280_015 ENSE00001600280 015 6 30134911 30135080 + 42 96 32 G A 30135006 436 96 AAGGAAAAGGTAGCCAGTGACGTGGCCTGTACCAGCAGCACTTGAAGCTTCTGGTCTTCTTGACACTTTACATCTTCAATCTCATCTCTCTCCGTGCTCAGAGCTTCCAGTCGACTCCTGAGACGATCCTGTGGGGAGAAGAATGGGTGGATAGAGGTGACTGAATTAAT 30167133 30167303 30167228 30167229 30167229 exon -43 0.5625 ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAAGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT mutant NA NA NA NA NA 322 341 1 1 1 NA NA 0.99262 1 NA NA 0.007379971 0 NA 0.99631 NA 0.003689985 NA FALSE NA 0.003 -0.3 . intron_variant MODIFIER TRIM15 HGNC 16284 ENST00000376688 1/2 1 NA AGG G,A 8.472e-06 6:30167229 TRIM15 HGNC Symbol protein_coding 9490 ENSG00000204610 ENSE00001600280 synonymous_variant -0.258627 0.15352 0.00863 0.603402 0.3843353 0 2.183509e-11 FALSE 4.14635e-06 ENSE00001600280_017 ENSE00001600280 017 6 30134911 30135080 + 42 96 32 A C 30135014 438 104 AAGGAAAAGGTAGCCAGTGACGTGGCCTGTACCAGCAGCACTTGAAGCTTCTGGTCTTCTTGACACGTTACATCCTCAATCTCATCTCTCTCCGTGCTCAGAGCTTCCAGTCGACTCCTGAGACGATCCTGTGGGGAGAAGAATGGGTGGATAGAGGTGACTGAATTAAT 30167133 30167303 30167236 30167237 30167237 exon -35 0.6458333 ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAACGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT mutant NA NA NA NA NA 241 92 1 1 1 NA NA 0.99262 1 NA NA 0.007379971 0 NA 0.99631 NA 0.003689985 NA FALSE NA 0.003 0.924 . intron_variant MODIFIER TRIM15 HGNC 16284 ENST00000376688 1/2 1 NA AAG A,C 8.474e-06 6:30167237 TRIM15 HGNC Symbol protein_coding 9490 ENSG00000204610 ENSE00001600280 missense_variant 2.871029 0.33211 0.25738 0.603402 0.9960418 0 2.183509e-11 FALSE 4.14618e-06 ENSE00001600280_018 ENSE00001600280 018 6 30134911 30135080 + 42 96 32 A G 30135026 439 116 AAGGAAAAGGTAGCCAGTGACGTGGCCTGTACCAGCAGCACTTGAAGCTTCTGGCCTTCTTGACACTTTACATCCTCAATCTCATCTCTCTCCGTGCTCAGAGCTTCCAGTCGACTCCTGAGACGATCCTGTGGGGAGAAGAATGGGTGGATAGAGGTGACTGAATTAAT 30167133 30167303 30167248 30167249 30167249 exon -23 0.7708333 ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGGCCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT ATTAATTCAGTCACCTCTATCCACCCATTCTTCTCCCCACAGGATCGTCTCAGGAGTCGACTGGAAGCTCTGAGCACGGAGAGAGATGAGATTGAGGATGTAAAGTGTCAAGAAGACCAGAAGCTTCAAGTGCTGCTGGTACAGGCCACGTCACTGGCTACCTTTTCCTT mutant NA NA NA NA NA 34 31 1 0.95 0.975 NA NA 0.99262 1 NA NA 0.007379971 -0.05 NA 0.99631 NA -0.02131001 NA FALSE NA 0.921 1.979 . intron_variant MODIFIER TRIM15 HGNC 16284 ENST00000376688 1/2 1 NA GAC A,G 8.472e-06 6:30167249 TRIM15 HGNC Symbol protein_coding 9490 ENSG00000204610 ENSE00001600280 missense_variant 2.934135 0.9756 0.91766 0.603402 0.9951831 0 2.183509e-11 FALSE 8.29291e-06 ENSE00001600313_000 ENSE00001600313 000 1 39723564 39723733 + 44 93 33 NA NA NA NA NA AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 NA NA NA NA NA NA AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT natural 215 196 0.9805247 0.9791581 0.9798414 4074 3965 0.7262198 0.6633577 0.6947887 0.9805247 0.9791581 0.7262198 0.6633577 0 0 0 0 0.9798414 0.6947887 0 0 0 FALSE FALSE NA NA NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MACF1 NA NA NA ENSG00000127603 ENSE00003602769 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001600313_001 ENSE00001600313 001 1 39723564 39723733 + 44 93 33 T C 39723579 1304 16 AAAAAGTCCTAGAGCCCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257906 39257907 39257907 upstr_intron -29 -0.6363636 AAAAAGTCCTAGAGCCCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 362 24 1 1 1 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.2737802 0.3366423 0.9798414 0.6947887 NA 0.3052113 NA FALSE NA 0.036 0.474 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 4/92 rs558427968 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTC T,C 8.236e-06 1:39257907 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 intron_variant 0.392126 0.30943 0.14709 0.156188 0.6531243 0.119696 1 TRUE 8.15361e-06 ENSE00001600313_002 ENSE00001600313 002 1 39723564 39723733 + 44 93 33 G A 39723582 1305 19 AAAAAGTCCTAGAGCTCTAAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257909 39257910 39257910 upstr_intron -26 -0.5681818 AAAAAGTCCTAGAGCTCTAAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 119 333 0.9829682 1 0.9914841 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.2567483 0.3366423 0.9798414 0.6947887 NA 0.2966953 NA FALSE NA 0.062 0.206 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 4/92 1 NA TGA G,A 2.471e-05 1:39257910 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 intron_variant 0.375545 0.18624 0.13281 0.156188 0.7053535 0.119696 1 TRUE 2.03797e-05 ENSE00001600313_004 ENSE00001600313 004 1 39723564 39723733 + 44 93 33 A G 39723583 1307 20 AAAAAGTCCTAGAGCTCTGGGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257910 39257911 39257911 upstr_intron -25 -0.5454545 AAAAAGTCCTAGAGCTCTGGGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 23 111 0.881236 0.9985725 0.9399042 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.1550161 0.3352148 0.9798414 0.6947887 NA 0.2451155 NA FALSE NA 0.064 2.999 NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:39257911 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 intron_variant 0.409978 0.29678 0.84117 0.156188 0.6138916 0.119696 1 TRUE 4.07554e-06 ENSE00001600313_005 ENSE00001600313 005 1 39723564 39723733 + 44 93 33 C T 39723586 1308 23 AAAAAGTCCTAGAGCTCTGAGCTGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257913 39257914 39257914 upstr_intron -22 -0.4772727 AAAAAGTCCTAGAGCTCTGAGCTGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant 49 46 0.8561394 0.9096028 0.8828711 NA NA NA NA NA 0.9805247 0.9791581 0.7262198 0.6633577 -0.1243852 -0.0695553 NA NA 0.9798414 0.6947887 -0.09697027 NA NA NA FALSE 0 -0.503 rs145835394 intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 4/92 rs145835394 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 1.647e-05 1:39257914 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 intron_variant 0.376954 0.17669 0.04204 0.156188 0.6396375 0.119696 1 TRUE 8.14989e-06 ENSE00001600313_006 ENSE00001600313 006 1 39723564 39723733 + 44 93 33 G A 39723587 1309 24 AAAAAGTCCTAGAGCTCTGAGCCATGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257914 39257915 39257915 upstr_intron -21 -0.4545455 AAAAAGTCCTAGAGCTCTGAGCCATGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 104 505 0.8937314 0.9878317 0.9407816 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.1675116 0.324474 0.9798414 0.6947887 NA 0.2459928 NA FALSE NA 0 -3.973 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 4/92 rs374811732 1 NA A:0 A:0.0001 CGT G,A 9.884e-05 1:39257915 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 intron_variant 0.063492 0.19814 0.01141 0.156188 0.7131912 0.119696 1 TRUE 0.000109971 ENSE00001600313_007 ENSE00001600313 007 1 39723564 39723733 + 44 93 33 G A 39723589 1310 26 AAAAAGTCCTAGAGCTCTGAGCCGTACTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257916 39257917 39257917 upstr_intron -19 -0.4090909 AAAAAGTCCTAGAGCTCTGAGCCGTACTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant 16 10 1 1 1 29 71 1 1 1 0.9805247 0.9791581 0.7262198 0.6633577 0.01947532 0.02084189 0.2737802 0.3366423 0.9798414 0.6947887 0.02015861 0.3052113 0.2850526 FALSE FALSE 0 -1.335 rs7545369 intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 4/92 rs7545369 1 A:0.0014 A:0.0008 A:0.0014 NA A:0 A:0.005 A:0 A:0.002 A:0.0081 TGC G,A 0.004003 1:39257917 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 intron_variant 0.103087 0.14768 0.0072 0.156188 0.6515044 0.119696 1 TRUE 0.00383657 ENSE00001600313_008 ENSE00001600313 008 1 39723564 39723733 + 44 93 33 T C 39723594 1311 31 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTCATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257921 39257922 39257922 upstr_intron -14 -0.2954545 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTCATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 735 123 0.9785262 0.998712 0.9886191 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.2523064 0.3353544 0.9798414 0.6947887 NA 0.2938304 NA FALSE NA 0 -0.298 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 4/92 rs199655004 1 NA C:0 C:0.0005 TTA T,C 0.000173 1:39257922 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 intron_variant 0.443884 0.22071 0.09268 0.156188 0.6579996 0.119696 1 TRUE 0.000171035 ENSE00001600313_009 ENSE00001600313 009 1 39723564 39723733 + 44 93 33 T C 39723603 1312 40 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTCTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257930 39257931 39257931 upstr_intron -5 -0.09090909 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTCTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 11 766 1 1 1 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.2737802 0.3366423 0.9798414 0.6947887 NA 0.3052113 NA FALSE NA 0.964 2.555 . splice_region_variant&intron_variant LOW MACF1 HGNC 13664 ENST00000361689 4/92 1 NA TTT T,C 8.236e-06 1:39257931 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 splice_region_variant 0.460467 0.26254 0.78745 0 0.7185852 0.46112 1 TRUE 4.06782e-06 ENSE00001600313_010 ENSE00001600313 010 1 39723564 39723733 + 44 93 33 C G 39723614 1313 51 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAAGTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257941 39257942 39257942 exon 7 0.07526882 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAAGTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 11 188 0.95 1 0.975 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.2237802 0.3366423 0.9798414 0.6947887 NA 0.2802113 NA FALSE NA 0.993 1.856 . missense_variant MODERATE MACF1 HGNC 13664 ENST00000361689 5/93 1 benign(0.435) NA ACT C,G 8.236e-06 1:39257942 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 missense_variant 3.546969 0.97371 0.93049 0.722319 0.9975542 0 1 TRUE 4.06279e-06 ENSE00001600313_011 ENSE00001600313 011 1 39723564 39723733 + 44 93 33 A G 39723638 1314 75 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACGTCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39257965 39257966 39257966 exon 31 0.3333333 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACGTCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 355 96 0.9077647 1 0.9538823 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.1815448 0.3366423 0.9798414 0.6947887 NA 0.2590936 NA FALSE NA 1 9.018 . missense_variant MODERATE MACF1 HGNC 13664 ENST00000361689 5/93 1 probably_damaging(0.933) NA CAT A,G 8.236e-06 1:39257966 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 missense_variant 5.373874 0.99257 0.98883 0.722319 0.9991619 0 1 TRUE 8.12262e-06 ENSE00001600313_013 ENSE00001600313 013 1 39723564 39723733 + 44 93 33 G A 39723710 1316 147 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATATGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 39258037 39258038 39258038 downstr_intron 10 1.3125 AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATATGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT mutant NA NA NA NA NA 571 352 1 0.992284 0.996142 0.9805247 0.9791581 0.7262198 0.6633577 NA NA 0.2737802 0.3289264 0.9798414 0.6947887 NA 0.3013533 NA FALSE NA 0 -2.505 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 5/92 1 NA TGT G,A 8.236e-06 1:39258038 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003602769 intron_variant 0.166461 0.14643 0.02744 0.0869 0.4014339 0.0563326 1 TRUE 1.21865e-05 ENSE00001600313_BRK ENSE00001600313 BRK 1 39723564 39723733 + 44 93 33 A,G; T,T NA NA NA AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCTTGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGCCAGGGCATGTGAAGTTTGGAATTCCTGTTGCT 39257891 39258061 NA NA NA NA NA NA AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCTTGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGCCAGGGCATGTGAAGTTTGGAATTCCTGTTGCT AAAAAGTCCTAGAGCTCTGAGCCGTGCTTTTATTTCTTTTTCAGGTGAAACTAGTGAATATTCGCAATGATGACATCACAGATGGCAACCCCAAGTTGACCCTGGGTCTGATCTGGACCATTATTTTGCATTTCCAGGTAGGGCATGTGAAGTTTGGAATTCCTGTTGCT control 278 733 0 0.005332485 0.002666243 NA NA NA NA NA 0.9805247 0.9791581 0.7262198 0.6633577 -0.9805247 -0.9738256 NA NA 0.9798414 0.6947887 -0.9771751 NA NA NA TRUE NA NA NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MACF1 NA NA NA ENSG00000127603 ENSE00003602769 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001601217_000 ENSE00001601217 000 13 32825962 32826131 + 53 75 42 NA NA NA NA NA CAGATTTGCTCACAGGAACCCATAATGAAACCTGCCTTGTGTTTCTTTTCCAGAAGAGAACAAAAGAGAAGTTGGTACATGTCCTTTCTCTGTGTGGCCAAGAAGTAGGATTGAGCAAAAATCCATCAGTAAGTTCTGTCATGTGTCATAGTTATTTTGGTGTCATATCT 32251824 32251994 NA NA NA NA NA NA CAGATTTGCTCACAGGAACCCATAATGAAACCTGCCTTGTGTTTCTTTTCCAGAAGAGAACAAAAGAGAAGTTGGTACATGTCCTTTCTCTGTGTGGCCAAGAAGTAGGATTGAGCAAAAATCCATCAGTAAGTTCTGTCATGTGTCATAGTTATTTTGGTGTCATATCT CAGATTTGCTCACAGGAACCCATAATGAAACCTGCCTTGTGTTTCTTTTCCAGAAGAGAACAAAAGAGAAGTTGGTACATGTCCTTTCTCTGTGTGGCCAAGAAGTAGGATTGAGCAAAAATCCATCAGTAAGTTCTGTCATGTGTCATAGTTATTTTGGTGTCATATCT natural 74 60 0.9994149 0.9877093 0.9935621 3790 3347 0.9788569 0.9561639 0.9675104 0.9994149 0.9877093 0.9788569 0.9561639 0 0 0 0 0.9935621 0.9675104 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001601217 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001601217_BRK ENSE00001601217 BRK 13 32825962 32826131 + 53 75 42 A,G; T,T NA NA NA CAGATTTGCTCACAGGAACCCATAATGAAACCTGCCTTGTGTTTCTTTTCCTTAAGAGAACAAAAGAGAAGTTGGTACATGTCCTTTCTCTGTGTGGCCAAGAAGTAGGATTGAGCAAAAATCCATCACCAAGTTCTGTCATGTGTCATAGTTATTTTGGTGTCATATCT 32251824 32251994 NA NA NA NA NA NA CAGATTTGCTCACAGGAACCCATAATGAAACCTGCCTTGTGTTTCTTTTCCTTAAGAGAACAAAAGAGAAGTTGGTACATGTCCTTTCTCTGTGTGGCCAAGAAGTAGGATTGAGCAAAAATCCATCACCAAGTTCTGTCATGTGTCATAGTTATTTTGGTGTCATATCT CAGATTTGCTCACAGGAACCCATAATGAAACCTGCCTTGTGTTTCTTTTCCAGAAGAGAACAAAAGAGAAGTTGGTACATGTCCTTTCTCTGTGTGGCCAAGAAGTAGGATTGAGCAAAAATCCATCAGTAAGTTCTGTCATGTGTCATAGTTATTTTGGTGTCATATCT control NA NA NA NA NA 124 883 0.02546065 0 0.01273032 0.9994149 0.9877093 0.9788569 0.9561639 NA NA -0.9533962 -0.9561639 0.9935621 0.9675104 NA -0.9547801 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001601217 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001601380_000 ENSE00001601380 000 20 42208567 42208736 + 45 90 35 NA NA NA NA NA GGAAATCCAGAGTCTAGAATGCTGTGACCTCTTACCACATTTGGGTTGAAGGGTGGAGTTAGCCTCTTGTGGTACAGGTCATCCCAGTTTATGGGGCTGAAGAATACATGGTTCTTAATCTCAAGCTGCAGGAAGTGCAGAAAAAAGGTTCTGGTTAGAAGTAGCCCTCC 43579926 43580096 NA NA NA NA NA NA GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC natural 1054 1633 0.840411 0.8469019 0.8436564 3864 3066 0.9502849 0.9294742 0.9398796 0.840411 0.8469019 0.9502849 0.9294742 0 0 0 0 0.8436564 0.9398796 0 0 0 FALSE FALSE NA NA NA NA NA SGK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SGK2 NA NA NA ENSG00000101049 ENSE00003500053 NA NA NA NA NA NA NA 2.934573e-07 FALSE NA ENSE00001601380_002 ENSE00001601380 002 20 42208567 42208736 + 45 90 35 G A 42208586 1329 20 GGAAATCCAGAGTCTAGAATGCTGTGACCTCTTACCACATTTGGGTTGAAGGGTGGAGTTAGCCTCTTGTGGTACAGGTCATCCCAGTTTATGGGGCTGAAGAATACATGGTTCTTAATCTCAAGCTGCAGGAAGTGCAGAAAAAAGGTTTTGGTTAGAAGTAGCCCTCC 43579926 43580096 43579945 43579946 43579946 upstr_intron -26 -0.5555556 GGAGGGCTACTTCTAACCAAAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 777 387 0.9853573 0.9824207 0.983889 0.840411 0.8469019 0.9502849 0.9294742 NA NA 0.03507235 0.05294657 0.8436564 0.9398796 NA 0.04400946 NA FALSE NA 0.077 2.028 . intron_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 11/13 1 NA AGA G,A 8.236e-06 20:43579946 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 intron_variant 1.189025 0.30105 0.13439 0.06567 0.729086 0.229214 2.934573e-07 FALSE 4.06322e-06 ENSE00001601380_003 ENSE00001601380 003 20 42208567 42208736 + 45 90 35 A C 42208587 1330 21 GGAGGGCTACTTCTAACCAGCACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43579946 43579947 43579947 upstr_intron -25 -0.5333333 GGAGGGCTACTTCTAACCAGCACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 1613 246 0.8848647 0.9471056 0.9159851 0.840411 0.8469019 0.9502849 0.9294742 NA NA -0.06542025 0.01763141 0.8436564 0.9398796 NA -0.02389442 NA FALSE NA 0.002 -0.901 . intron_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 11/13 rs570797751 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GAA A,C 8.236e-06 20:43579947 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 intron_variant 0.593479 0.20381 0.02752 0.06567 0.8201051 0.229098 2.934573e-07 FALSE 4.06296e-06 ENSE00001601380_004 ENSE00001601380 004 20 42208567 42208736 + 45 90 35 C A 42208589 1331 23 GGAAATCCAGAGTCTAGAATGCTGTGACCTCTTACCACATTTGGGTTGAAGGGTGGAGTTAGCCTCTTGTGGTACAGGTCATCCCAGTTTATGGGGCTGAAGAATACATGGTTCTTAATCTCAAGCTGCAGGAAGTGCAGAAAAAAGTTTCTGGTTAGAAGTAGCCCTCC 43579926 43580096 43579948 43579949 43579949 upstr_intron -23 -0.4888889 GGAGGGCTACTTCTAACCAGAAACTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 790 179 0.9146414 0.9277437 0.9211925 0.840411 0.8469019 0.9502849 0.9294742 NA NA -0.03564354 -0.001730488 0.8436564 0.9398796 NA -0.01868701 NA FALSE NA 0.016 0.435 NA NA NA SGK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:43579949 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 intron_variant 2.220246 0.90582 0.40765 0.06567 0.8231378 0.352603 2.934573e-07 FALSE 2.43778e-05 ENSE00001601380_006 ENSE00001601380 006 20 42208567 42208736 + 45 90 35 C T 42208600 1333 34 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGTACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43579959 43579960 43579960 upstr_intron -12 -0.2444444 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGTACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 599 246 0.9970883 0.9670427 0.9820655 0.840411 0.8469019 0.9502849 0.9294742 NA NA 0.04680334 0.03756857 0.8436564 0.9398796 NA 0.04218596 NA FALSE NA 0.574 0.181 . intron_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 11/13 1 NA GCA C,T 2.471e-05 20:43579960 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 intron_variant 1.771548 0.90714 0.25995 0.074636 0.9210241 0.386986 2.934573e-07 FALSE 1.21892e-05 ENSE00001601380_007 ENSE00001601380 007 20 42208567 42208736 + 45 90 35 C T 42208605 1334 39 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTTCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43579964 43579965 43579965 upstr_intron -7 -0.1333333 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTTCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 337 617 0.9998778 0.9960818 0.9979798 0.840411 0.8469019 0.9502849 0.9294742 NA NA 0.04959288 0.06660762 0.8436564 0.9398796 NA 0.05810025 NA FALSE NA 0.106 0.119 . splice_region_variant&intron_variant&NMD_transcript_variant LOW SGK2 HGNC 13900 ENST00000496343 11/13 rs368501749 1 NA T:0 T:0.0001 TCC C,T 1.647e-05 20:43579965 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 splice_region_variant 1.730454 0.45107 0.41635 0.074636 0.8170644 0.304072 2.934573e-07 FALSE 8.12684e-06 ENSE00001601380_008 ENSE00001601380 008 20 42208567 42208736 + 45 90 35 A G 42208618 1335 52 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGGTTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43579977 43579978 43579978 exon 7 0.07777778 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGGTTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 349 101 0.9150708 0.8039249 0.8594978 0.840411 0.8469019 0.9502849 0.9294742 NA NA -0.03521414 -0.1255493 0.8436564 0.9398796 NA -0.08038172 NA FALSE NA 1 7.083 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 12/14 1 NA GAT A,G 4.942e-05 20:43579978 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 missense_variant 2.151281 0.96858 0.97134 0.553676 0.9955558 0 2.934573e-07 FALSE 4.46936e-05 ENSE00001601380_010 ENSE00001601380 010 20 42208567 42208736 + 45 90 35 C T 42208627 1337 61 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACTATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43579986 43579987 43579987 exon 16 0.1777778 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACTATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 1340 376 0.8093022 0.8 0.8046511 0.840411 0.8469019 0.9502849 0.9294742 NA NA -0.1409827 -0.1294742 0.8436564 0.9398796 NA -0.1352284 NA FALSE NA 1 5.859 rs35793869 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 12/14 rs35793869 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0005 T:0.0016 CCA C,T 0.001483 20:43579987 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 missense_variant 6.484772 0.97383 0.92985 0.553676 0.9968704 0 2.934573e-07 FALSE 0.00125176 ENSE00001601380_011 ENSE00001601380 011 20 42208567 42208736 + 45 90 35 A G 42208628 1338 62 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCGTGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43579987 43579988 43579988 exon 17 0.1888889 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCGTGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 456 1122 1 0.9978998 0.9989499 0.840411 0.8469019 0.9502849 0.9294742 NA NA 0.04971506 0.06842564 0.8436564 0.9398796 NA 0.05907035 NA FALSE NA 1 9.072 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 12/14 rs200797550 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 CAT A,G 1.647e-05 20:43579988 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 missense_variant 5.763188 0.96855 0.95957 0.553676 0.9966278 0 2.934573e-07 FALSE 1.21922e-05 ENSE00001601380_012 ENSE00001601380 012 20 42208567 42208736 + 45 90 35 T C 42208629 1339 63 GGAAATCCAGAGTCTAGAATGCTGTGACCTCTTACCACATTTGGGTTGAAGGGTGGAGTTAGCCTCTTGTGGTACAGGTCATCCCAGTTTATGGGGCTGAAGAATACGTGGTTCTTAATCTCAAGCTGCAGGAAGTGCAGAAAAAAGGTTCTGGTTAGAAGTAGCCCTCC 43579926 43580096 43579988 43579989 43579989 exon 18 0.2 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCACGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 386 942 1 0.8813606 0.9406803 0.840411 0.8469019 0.9502849 0.9294742 NA NA 0.04971506 -0.04811359 0.8436564 0.9398796 NA 0.0008007348 NA FALSE NA 0.142 -0.04 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 12/14 COSM3841056 1 NA ATG T,C 1.647e-05 20:43579989 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 synonymous_variant 0.021763 0.92161 0.45759 0.553676 0.8871908 0 2.934573e-07 FALSE 8.12856e-06 ENSE00001601380_013 ENSE00001601380 013 20 42208567 42208736 + 45 90 35 C T 42208644 1340 78 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCTATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43580003 43580004 43580004 exon 33 0.3666667 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCTATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 703 1597 0.9986458 0.9924365 0.9955411 0.840411 0.8469019 0.9502849 0.9294742 NA NA 0.04836082 0.06296236 0.8436564 0.9398796 NA 0.05566159 NA FALSE NA 0.91 0.154 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 12/14 1 NA CCA C,T 8.236e-06 20:43580004 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 synonymous_variant 1.355347 0.90941 0.60224 0.553676 0.6219463 0 2.934573e-07 FALSE 4.07435e-06 ENSE00001601380_015 ENSE00001601380 015 20 42208567 42208736 + 45 90 35 C T 42208665 1342 99 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTATCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43580024 43580025 43580025 exon -37 0.6 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTATCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 461 263 0.9927822 0.9925615 0.9926718 0.840411 0.8469019 0.9502849 0.9294742 NA NA 0.04249726 0.06308732 0.8436564 0.9398796 NA 0.05279229 NA FALSE NA 0.81 0.11 rs145973289 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 12/14 rs145973289 1 T:0.0004 T:0 T:0.0014 NA T:0 T:0.001 T:0 T:0 T:0.0014 ACC C,T 0.00112 20:43580025 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 synonymous_variant 1.037864 0.91382 0.60301 0.553676 0.7129788 0 2.934573e-07 FALSE 0.00114844 ENSE00001601380_016 ENSE00001601380 016 20 42208567 42208736 + 45 90 35 A G 42208670 1343 104 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAGGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 43580029 43580030 43580030 exon -32 0.6555556 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAGGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 90 1402 0.004277633 0.1690847 0.08668116 0.840411 0.8469019 0.9502849 0.9294742 NA NA -0.9460073 -0.7603895 0.8436564 0.9398796 NA -0.8531984 NA TRUE NA 1 9.072 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 12/14 1 NA AAG A,G 1.647e-05 20:43580030 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 missense_variant 2.680816 0.96851 0.95966 0.553676 0.9958589 0 2.934573e-07 FALSE 1.24772e-05 ENSE00001601380_019 ENSE00001601380 019 20 42208567 42208736 + 45 90 35 T C 42208726 1346 160 GGAAATCCAGGGTCTAGAATGCTGTGACCTCTTACCACATTTGGGTTGAAGGGTGGAGTTAGCCTCTTGTGGTACAGGTCATCCCAGTTTATGGGGCTGAAGAATACATGGTTCTTAATCTCAAGCTGCAGGAAGTGCAGAAAAAAGGTTCTGGTTAGAAGTAGCCCTCC 43579926 43580096 43580085 43580086 43580086 downstr_intron 25 1.735294 GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACCCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC mutant NA NA NA NA NA 617 860 0.956223 0.9767786 0.9665008 0.840411 0.8469019 0.9502849 0.9294742 NA NA 0.005938047 0.04730445 0.8436564 0.9398796 NA 0.02662125 NA FALSE NA 0 0.329 . intron_variant&NMD_transcript_variant MODIFIER SGK2 HGNC 13900 ENST00000496343 12/13 1 NA CTC T,C 8.247e-06 20:43580086 SGK2 HGNC Symbol protein_coding 29269 ENSG00000101049 ENSE00003500053 intron_variant 0.843092 0.3363 0.08577 0.06567 0.8724372 0.0618917 2.934573e-07 FALSE 1.12194e-05 ENSE00001601380_BRK ENSE00001601380 BRK 20 42208567 42208736 + 45 90 35 A,G; T,T NA NA NA GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCTTCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGCCAAGAGGTCACAGCATTCTAGACTCTGGATTTCC 43579926 43580096 NA NA NA NA NA NA GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCTTCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGCCAAGAGGTCACAGCATTCTAGACTCTGGATTTCC GGAGGGCTACTTCTAACCAGAACCTTTTTTCTGCACTTCCTGCAGCTTGAGATTAAGAACCATGTATTCTTCAGCCCCATAAACTGGGATGACCTGTACCACAAGAGGCTAACTCCACCCTTCAACCCAAATGTGGTAAGAGGTCACAGCATTCTAGACTCTGGATTTCC control 411 345 0 0 0 NA NA NA NA NA 0.840411 0.8469019 0.9502849 0.9294742 -0.840411 -0.8469019 NA NA 0.8436564 0.9398796 -0.8436564 NA NA NA TRUE NA NA NA NA NA SGK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SGK2 NA NA NA ENSG00000101049 ENSE00003500053 NA NA NA NA NA NA NA 2.934573e-07 FALSE NA ENSE00001601473_000 ENSE00001601473 000 6 70875765 70875934 + 68 45 57 NA NA NA NA NA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA 70165872 70166042 NA NA NA NA NA NA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA natural 138 236 0.9783609 0.9197834 0.9490721 8365 8119 0.8611536 0.9726354 0.9168945 0.9783609 0.9197834 0.8611536 0.9726354 0 0 0 0 0.9490721 0.9168945 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003724090 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001601473_003 ENSE00001601473 003 6 70875765 70875934 + 68 45 57 G A 70875806 1631 42 TTATAAAAGTCTTAAGTAAACACATGAATTTTAAATTTTAAGCCTAGAACAACTCACAGGTGGTCCAGGTGGTCCGGGTTTCCCAGGGGGTCCGTCGCTGCCCTGCAAGGGATATATAGACATATCAGTGGCGTAGACGTTTCTACCCCAGGTTTACAAACTATCTTCTG 70165872 70166042 70165913 70165914 70165914 upstr_intron -27 -0.3823529 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCACTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 2832 93 0.9966525 0.993136 0.9948942 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.1354989 0.02050063 0.9490721 0.9168945 NA 0.07799976 NA FALSE NA 0 -0.054 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70165914 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 intron_variant -0.066305 0.0935 0.00029 0.079558 0.7916208 0.152352 5.55032e-17 FALSE 1.22622e-05 ENSE00001601473_004 ENSE00001601473 004 6 70875765 70875934 + 68 45 57 G T 70875806 1632 42 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCTCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA 70165872 70166042 70165913 70165914 70165914 upstr_intron -27 -0.3823529 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCTCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 370 1626 0.9358622 0.9974315 0.9666468 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.07470855 0.02479612 0.9490721 0.9168945 NA 0.04975234 NA FALSE NA 0 -0.054 NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003724090 intron_variant -0.242121 0.21938 0.04159 0.079558 0.6747452 0.152352 5.55032e-17 FALSE 5.31363e-05 ENSE00001601473_006 ENSE00001601473 006 6 70875765 70875934 + 68 45 57 T C 70875813 1634 49 TTATAAAAGTCTTAAGTAAACACATGAATTTTAAATTTTAAGCCTAGAACAACTCACAGGTGGTCCAGGTGGTCCGGGTTTCCCAGGGGGTCCGTCGCTGCCCTGCAAGGGATATATAGACGTATCAGCGGCGTAGACGTTTCTACCCCAGGTTTACAAACTATCTTCTG 70165872 70166042 70165920 70165921 70165921 upstr_intron -20 -0.2794118 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATACGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 518 1207 1 0.9914165 0.9957082 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.1388464 0.01878108 0.9490721 0.9168945 NA 0.07881374 NA FALSE NA 0.005 -0.385 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 36/50 1 NA ATG T,C 1.647e-05 6:70165921 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 intron_variant -0.262906 0.19258 0.04871 0.079558 0.4025367 0.152352 5.55032e-17 FALSE 2.85139e-05 ENSE00001601473_007 ENSE00001601473 007 6 70875765 70875934 + 68 45 57 C G 70875816 1635 52 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTGTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA 70165872 70166042 70165923 70165924 70165924 upstr_intron -17 -0.2352941 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTGTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 24 1449 1 0.991836 0.995918 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.1388464 0.01920063 0.9490721 0.9168945 NA 0.07902351 NA FALSE NA 0.001 0.264 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 36/50 1 NA TCT C,G 1.647e-05 6:70165924 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 intron_variant -0.106693 0.20765 0.13326 0.079558 0.3571909 0.152352 5.55032e-17 FALSE 2.4416e-05 ENSE00001601473_008 ENSE00001601473 008 6 70875765 70875934 + 68 45 57 A G 70875818 1636 54 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTGTATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA 70165872 70166042 70165925 70165926 70165926 upstr_intron -15 -0.2058824 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTGTATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 167 629 1 0.9994448 0.9997224 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.1388464 0.02680943 0.9490721 0.9168945 NA 0.08282792 NA FALSE NA 0 -0.724 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 36/50 rs373268496 1 NA G:0.0002 G:0 TAT A,G 8.236e-06 6:70165926 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 intron_variant -0.171228 0.11715 0.00699 0.079558 0.3279565 0.152352 5.55032e-17 FALSE 4.06759e-06 ENSE00001601473_009 ENSE00001601473 009 6 70875765 70875934 + 68 45 57 C T 70875830 1637 66 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGTAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA 70165872 70166042 70165937 70165938 70165938 upstr_intron -3 -0.02941176 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGTAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 3454 1798 0.9988989 0.9977631 0.998331 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.1377453 0.02512771 0.9490721 0.9168945 NA 0.0814365 NA FALSE NA 0.9 2.34 . splice_region_variant&intron_variant LOW COL19A1 HGNC 2196 ENST00000322773 36/50 1 NA GCA C,T 8.236e-06 6:70165938 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 splice_region_variant 1.365835 0.9693 0.79759 0.079558 0.6009482 0.353566 5.55032e-17 FALSE 8.13511e-06 ENSE00001601473_011 ENSE00001601473 011 6 70875765 70875934 + 68 45 57 G C 70875853 1639 89 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGCAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA 70165872 70166042 70165960 70165961 70165961 exon 21 0.4666667 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGCAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 2261 608 0.9949292 0.9980283 0.9964787 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.1337756 0.0253929 0.9490721 0.9168945 NA 0.07958425 NA FALSE NA 1 1.067 . synonymous_variant LOW COL19A1 HGNC 2196 ENST00000322773 37/51 1 NA GGA G,C 8.237e-06 6:70165961 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 synonymous_variant 0.310011 0.97482 0.94773 0.487112 0.6072629 0 5.55032e-17 FALSE NA ENSE00001601473_012 ENSE00001601473 012 6 70875765 70875934 + 68 45 57 G A 70875860 1640 96 TTATAAAAGTCTTAAGTAAACACATGAATTTTAAATTTTAAGCCTAGAACAACTCACAGGTGGTCCAGGTGGTCTGGGTTTCCCAGGGGGTCCGTCGCTGCCCTGCAAGGGATATATAGACATATCAGCGGCGTAGACGTTTCTACCCCAGGTTTACAAACTATCTTCTG 70165872 70166042 70165967 70165968 70165968 exon -18 0.6222222 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCAGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 527 675 0.9171327 0.982585 0.9498588 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.0559791 0.009949615 0.9490721 0.9168945 NA 0.03296436 NA FALSE NA 1 6.472 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 37/51 1 deleterious(0) probably_damaging(1) NA CGG G,A 1.647e-05 6:70165968 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 missense_variant 5.890312 0.96534 0.97243 0.487112 0.9982963 0 5.55032e-17 FALSE 8.13458e-06 ENSE00001601473_013 ENSE00001601473 013 6 70875765 70875934 + 68 45 57 G A 70875870 1641 106 TTATAAAAGTCTTAAGTAAACACATGAATTTTAAATTTTAAGCCTAGAACAACTCACAGGTGGTTCAGGTGGTCCGGGTTTCCCAGGGGGTCCGTCGCTGCCCTGCAAGGGATATATAGACATATCAGCGGCGTAGACGTTTCTACCCCAGGTTTACAAACTATCTTCTG 70165872 70166042 70165977 70165978 70165978 exon -8 0.8444444 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGAACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 221 786 0.9814621 0.9934551 0.9874586 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.1203085 0.02081972 0.9490721 0.9168945 NA 0.07056413 NA FALSE NA 1 6.489 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 37/51 COSM421251 1 deleterious(0) probably_damaging(1) NA GGA G,A 8.237e-06 6:70165978 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 missense_variant 5.138507 0.96625 0.97283 0.500041 0.9963079 0 5.55032e-17 FALSE 4.06673e-06 ENSE00001601473_015 ENSE00001601473 015 6 70875765 70875934 + 68 45 57 G A 70875892 1643 128 TTATAAAAGTCTTAAGTAAACACATGAATTTTAAATTTTAAGTCTAGAACAACTCACAGGTGGTCCAGGTGGTCCGGGTTTCCCAGGGGGTCCGTCGCTGCCCTGCAAGGGATATATAGACATATCAGCGGCGTAGACGTTTCTACCCCAGGTTTACAAACTATCTTCTG 70165872 70166042 70165999 70166000 70166000 downstr_intron 15 1.267857 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGACTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 865 855 0.9454405 0.997875 0.9716577 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.08428688 0.02523964 0.9490721 0.9168945 NA 0.05476326 NA FALSE NA 0 -0.831 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 37/50 1 NA GGC G,A 1.647e-05 6:70166000 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 intron_variant -0.094487 0.25812 0.10821 0.080754 0.6265638 0.153832 5.55032e-17 FALSE 1.22101e-05 ENSE00001601473_016 ENSE00001601473 016 6 70875765 70875934 + 68 45 57 T C 70875894 1644 130 TTATAAAAGTCTTAAGTAAACACATGAATTTTAAATTTTAGGCCTAGAACAACTCACAGGTGGTCCAGGTGGTCCGGGTTTCCCAGGGGGTCCGTCGCTGCCCTGCAAGGGATATATAGACATATCAGCGGCGTAGACGTTTCTACCCCAGGTTTACAAACTATCTTCTG 70165872 70166042 70166001 70166002 70166002 downstr_intron 17 1.303571 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCCTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 206 966 1 0.9980816 0.9990408 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.1388464 0.02544619 0.9490721 0.9168945 NA 0.08214629 NA FALSE NA 0.257 2.047 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 37/50 1 NA CTT T,C 2.471e-05 6:70166002 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 intron_variant 0.366245 0.87204 0.61888 0.080754 0.4386486 0.71005 5.55032e-17 FALSE 1.22566e-05 ENSE00001601473_019 ENSE00001601473 019 6 70875765 70875934 + 68 45 57 T C 70875916 1647 152 TTATAAAAGTCTTAAGTAGACACATGAATTTTAAATTTTAAGCCTAGAACAACTCACAGGTGGTCCAGGTGGTCCGGGTTTCCCAGGGGGTCCGTCGCTGCCCTGCAAGGGATATATAGACATATCAGCGGCGTAGACGTTTCTACCCCAGGTTTACAAACTATCTTCTG 70165872 70166042 70166023 70166024 70166024 downstr_intron 39 1.696429 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTCTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 672 2066 0.9295285 0.9565964 0.9430625 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.0683749 -0.01603895 0.9490721 0.9168945 NA 0.02616798 NA FALSE NA 0.001 0.543 rs184268877 intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 37/50 rs184268877 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTT T,C 9.062e-05 6:70166024 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 intron_variant 0.121261 0.25427 0.0383 0.080754 0.4675652 0.115176 5.55032e-17 FALSE 0.000130499 ENSE00001601473_020 ENSE00001601473 020 6 70875765 70875934 + 68 45 57 G A 70875924 1648 160 TTATAAAAGTTTTAAGTAAACACATGAATTTTAAATTTTAAGCCTAGAACAACTCACAGGTGGTCCAGGTGGTCCGGGTTTCCCAGGGGGTCCGTCGCTGCCCTGCAAGGGATATATAGACATATCAGCGGCGTAGACGTTTCTACCCCAGGTTTACAAACTATCTTCTG 70165872 70166042 70166031 70166032 70166032 downstr_intron 47 1.839286 CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAAACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA mutant NA NA NA NA NA 738 2121 0.9888096 0.9972677 0.9930386 0.9783609 0.9197834 0.8611536 0.9726354 NA NA 0.127656 0.02463233 0.9490721 0.9168945 NA 0.07614414 NA FALSE NA 0.002 0.883 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 37/50 1 NA AGA G,A 8.238e-06 6:70166032 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003724090 intron_variant 0.195819 0.23103 0.10842 0.080754 0.7202655 0.0656782 5.55032e-17 FALSE 4.08473e-06 ENSE00001601473_BRK ENSE00001601473 BRK 6 70875765 70875934 + 68 45 57 A,G; T,T NA NA NA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCTTGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTCCGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA 70165872 70166042 NA NA NA NA NA NA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCTTGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTCCGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA CAGAAGATAGTTTGTAAACCTGGGGTAGAAACGTCTACGCCGCTGATATGTCTATATATCCCTTGCAGGGCAGCGACGGACCCCCTGGGAAACCCGGACCACCTGGACCACCTGTGAGTTGTTCTAGGCTTAAAATTTAAAATTCATGTGTTTACTTAAGACTTTTATAA control 427 261 0 0 0 NA NA NA NA NA 0.9783609 0.9197834 0.8611536 0.9726354 -0.9783609 -0.9197834 NA NA 0.9490721 0.9168945 -0.9490721 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003724090 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001602061_000 ENSE00001602061 000 12 23887573 23887742 - 45 69 56 NA NA NA NA NA ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 NA NA NA NA NA NA CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT natural NA NA NA NA NA 6617 4798 0.9348618 0.8199235 0.8773927 NA NA 0.9348618 0.8199235 NA NA 0 0 NA 0.8773927 NA 0 NA FALSE NA NA NA NA NA NA SOX5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SOX5 NA NA NA ENSG00000134532 ENSE00003663308 NA NA NA NA NA NA NA 0.9993989 TRUE NA ENSE00001602061_001 ENSE00001602061 001 12 23887573 23887742 - 45 69 56 A G 23887585 796 158 ATATATTTTTTAGATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734650 23734651 23734651 downstr_intron 33 1.75 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATCTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 335 3841 1 0.9970103 0.9985051 NA NA 0.9348618 0.8199235 NA NA 0.06513822 0.1770867 NA 0.8773927 NA 0.1211125 NA FALSE NA 0 1.262 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 6/14 rs370489700 1 NA G:0.0005 G:0 AAA A,G 3.296e-05 12:23734651 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 0.266183 0.24645 0.03408 0.061011 0.8287202 0.0448725 0.9993989 TRUE 7.57144e-05 ENSE00001602061_002 ENSE00001602061 002 12 23887573 23887742 - 45 69 56 G A 23887589 797 154 ATATATTTTTTAAATTATAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734654 23734655 23734655 downstr_intron 29 1.659091 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTATAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 4073 1828 0.9353812 0.9959147 0.9656479 NA NA 0.9348618 0.8199235 NA NA 0.0005194115 0.1759911 NA 0.8773927 NA 0.08825528 NA FALSE NA 0.001 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:23734655 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 0.452367 0.16291 0.06723 0.061011 0.4808185 0.0448725 0.9993989 TRUE 8.56957e-06 ENSE00001602061_003 ENSE00001602061 003 12 23887573 23887742 - 45 69 56 G T 23887589 798 154 ATATATTTTTTAAATTTTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734654 23734655 23734655 downstr_intron 29 1.659091 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTAAAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 787 527 0.9953941 0.9962522 0.9958231 NA NA 0.9348618 0.8199235 NA NA 0.06053228 0.1763287 NA 0.8773927 NA 0.1184305 NA FALSE NA 0.001 0.542 NA NA NA SOX5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SOX5 NA NA NA ENSG00000134532 ENSE00003663308 intron_variant 0.221435 0.18225 0.1181 0.061011 0.6475455 0.0448725 0.9993989 TRUE 2.57087e-05 ENSE00001602061_004 ENSE00001602061 004 12 23887573 23887742 - 45 69 56 T C 23887598 799 145 ATATATTTTTTAAATTGTAAGTATACTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734663 23734664 23734664 downstr_intron 20 1.454545 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAGTATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 449 69 1 0.997701 0.9988505 NA NA 0.9348618 0.8199235 NA NA 0.06513822 0.1777774 NA 0.8773927 NA 0.1214578 NA FALSE NA 0.002 -0.516 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 6/14 1 NA ATT T,C 1.648e-05 12:23734664 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 1.899857 0.17769 0.02973 0.061011 0.8663287 0.187533 0.9993989 TRUE 1.24669e-05 ENSE00001602061_005 ENSE00001602061 005 12 23887573 23887742 - 45 69 56 T A 23887599 800 144 ATATATTTTTTAAATTGTAAGTATATAGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734664 23734665 23734665 downstr_intron 19 1.431818 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCTATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 335 1246 0.9998771 0.9998425 0.9998598 NA NA 0.9348618 0.8199235 NA NA 0.06501531 0.1799189 NA 0.8773927 NA 0.1224671 NA FALSE NA 0.687 1.568 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 6/14 rs566786039 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TTG T,A 0.0001153 12:23734665 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 2.605406 0.46904 0.71627 0.061011 0.9040602 0.293273 0.9993989 TRUE 0.000149464 ENSE00001602061_006 ENSE00001602061 006 12 23887573 23887742 - 45 69 56 G T 23887600 801 143 ATATATTTTTTAAATTGTAAGTATATTTAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734665 23734666 23734666 downstr_intron 18 1.409091 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTAAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 2646 434 0.9985157 0.9996354 0.9990756 NA NA 0.9348618 0.8199235 NA NA 0.06365392 0.1797119 NA 0.8773927 NA 0.1216829 NA FALSE NA 0.696 2.243 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 6/14 1 NA TGA G,T 8.237e-06 12:23734666 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 2.226794 0.62526 0.55337 0.061011 0.8894663 0.855481 0.9993989 TRUE 4.14783e-06 ENSE00001602061_007 ENSE00001602061 007 12 23887573 23887742 - 45 69 56 G T 23887608 802 135 ATATATTTTTTAAATTGTAAGTATATTGAAATTATTATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734673 23734674 23734674 downstr_intron 10 1.227273 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATAATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 39 501 1 0.9960581 0.998029 NA NA 0.9348618 0.8199235 NA NA 0.06513822 0.1761345 NA 0.8773927 NA 0.1206364 NA FALSE NA 0.995 1.652 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 6/14 1 NA TGA G,T 8.237e-06 12:23734674 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 2.493121 0.97831 0.92272 0.061011 0.8250551 0.914632 0.9993989 TRUE 4.12436e-06 ENSE00001602061_009 ENSE00001602061 009 12 23887573 23887742 - 45 69 56 T C 23887627 804 116 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGCTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734692 23734693 23734693 exon -10 0.8695652 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAGCAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 431 1815 0.9891382 1 0.9945691 NA NA 0.9348618 0.8199235 NA NA 0.0542764 0.1800765 NA 0.8773927 NA 0.1171764 NA FALSE NA 0.73 -0.204 . synonymous_variant LOW SOX5 HGNC 11201 ENST00000309359 6/15 1 NA GTT T,C 8.237e-06 12:23734693 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 synonymous_variant -0.097094 0.97147 0.56347 0.553676 0.5699356 0 0.9993989 TRUE 8.17107e-06 ENSE00001602061_010 ENSE00001602061 010 12 23887573 23887742 - 45 69 56 G A 23887633 805 110 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGAAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734698 23734699 23734699 exon -16 0.7826087 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTTCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 46 1702 1 0.9943747 0.9971873 NA NA 0.9348618 0.8199235 NA NA 0.06513822 0.1744511 NA 0.8773927 NA 0.1197947 NA FALSE NA 0.766 -0.064 rs142014018 synonymous_variant LOW SOX5 HGNC 11201 ENST00000309359 6/15 rs142014018 1 A:0.0036 A:0.0113 A:0.0043 NA A:0 A:0 A:0 A:0.0123 A:0 GGA G,A 0.001079 12:23734699 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 synonymous_variant 1.00687 0.93206 0.28023 0.553676 0.6396046 0 0.9993989 TRUE 0.00082513 ENSE00001602061_011 ENSE00001602061 011 12 23887573 23887742 - 45 69 56 T C 23887640 806 103 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAACTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734705 23734706 23734706 exon -23 0.6811594 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAGTTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 361 1374 1 0.9998572 0.9999286 NA NA 0.9348618 0.8199235 NA NA 0.06513822 0.1799336 NA 0.8773927 NA 0.1225359 NA FALSE NA 1 7.339 . missense_variant MODERATE SOX5 HGNC 11201 ENST00000309359 6/15 1 deleterious(0) probably_damaging(0.986) NA ATT T,C 8.237e-06 12:23734706 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 missense_variant 5.285545 0.9902 0.97449 0.553676 0.998587 0 0.9993989 TRUE 8.16327e-06 ENSE00001602061_013 ENSE00001602061 013 12 23887573 23887742 - 45 69 56 T C 23887678 808 65 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGCCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734743 23734744 23734744 exon 9 0.1304348 CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGGCAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 714 5666 0.9770705 0.8267477 0.9019091 NA NA 0.9348618 0.8199235 NA NA 0.04220873 0.006824134 NA 0.8773927 NA 0.02451643 NA FALSE NA 1 1.453 rs144824530 synonymous_variant LOW SOX5 HGNC 11201 ENST00000309359 6/15 rs144824530 1 C:0.0010 C:0 C:0 NA C:0 C:0.005 C:0 C:0.0002 C:0.001 GTC T,C 0.001483 12:23734744 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 synonymous_variant 0.363669 0.96703 0.81852 0.553676 0.7293679 0 0.9993989 TRUE 0.001777 ENSE00001602061_014 ENSE00001602061 014 12 23887573 23887742 - 45 69 56 T G 23887712 809 31 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAAGTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734777 23734778 23734778 upstr_intron -26 -0.4464286 CTTCCCTCCGGGACTACAATATACTTGTAACTTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 1956 839 0.9989133 0.9959271 0.9974202 NA NA 0.9348618 0.8199235 NA NA 0.06405149 0.1760036 NA 0.8773927 NA 0.1200275 NA FALSE NA 0 -0.604 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 5/14 1 NA ATT T,G 1.648e-05 12:23734778 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 1.449109 0.22839 0.02095 0.061011 0.8165048 0.234512 0.9993989 TRUE 8.27952e-06 ENSE00001602061_015 ENSE00001602061 015 12 23887573 23887742 - 45 69 56 C T 23887716 810 27 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTATAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734781 23734782 23734782 upstr_intron -30 -0.5178571 CTTCCCTCCGGGACTACAATATACTTATAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 695 448 0.9958412 1 0.9979206 NA NA 0.9348618 0.8199235 NA NA 0.06097945 0.1800765 NA 0.8773927 NA 0.120528 NA FALSE NA 0.148 1.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:23734782 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 1.164858 0.21238 0.03022 0.061011 0.753483 0.163561 0.9993989 TRUE NA ENSE00001602061_016 ENSE00001602061 016 12 23887573 23887742 - 45 69 56 C G 23887716 811 27 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTAGAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 23734781 23734782 23734782 upstr_intron -30 -0.5178571 CTTCCCTCCGGGACTACAATATACTTCTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 1223 404 0.9991218 1 0.9995609 NA NA 0.9348618 0.8199235 NA NA 0.06426004 0.1800765 NA 0.8773927 NA 0.1221682 NA FALSE NA 0.148 1.015 NA NA NA SOX5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SOX5 NA NA NA ENSG00000134532 ENSE00003663308 intron_variant 1.073821 0.19679 0.0157 0.061011 0.7536739 0.163561 0.9993989 TRUE 4.1264e-06 ENSE00001602061_017 ENSE00001602061 017 12 23887573 23887742 - 45 69 56 T C 23887724 812 19 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATACTGTAGTCCCGGAGGGAAG 23734638 23734808 23734789 23734790 23734790 upstr_intron -38 -0.6607143 CTTCCCTCCGGGACTACAGTATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 290 2305 0.9987158 0.9736883 0.986202 NA NA 0.9348618 0.8199235 NA NA 0.063854 0.1537648 NA 0.8773927 NA 0.1088094 NA FALSE NA 0 -0.291 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 5/14 1 NA ATT T,C 8.238e-06 12:23734790 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 0.752452 0.15523 0.03061 0.061011 0.7825929 0.228604 0.9993989 TRUE 8.36267e-06 ENSE00001602061_018 ENSE00001602061 018 12 23887573 23887742 - 45 69 56 G C 23887726 813 17 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTCTAGTCCCGGAGGGAAG 23734638 23734808 23734791 23734792 23734792 upstr_intron -40 -0.6964286 CTTCCCTCCGGGACTAGAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 2048 477 0.9988692 0.9958602 0.9973647 NA NA 0.9348618 0.8199235 NA NA 0.06400747 0.1759366 NA 0.8773927 NA 0.119972 NA FALSE NA 0 -0.026 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 5/14 rs367600825 1 NA C:0.0007 C:0 TGT G,C 2.471e-05 12:23734792 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant 0.133946 0.17809 0.05563 0.061011 0.7053106 0.186072 0.9993989 TRUE 1.25724e-05 ENSE00001602061_019 ENSE00001602061 019 12 23887573 23887742 - 45 69 56 T C 23887727 814 16 ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGACCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATCTGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGCAGTCCCGGAGGGAAG 23734638 23734808 23734792 23734793 23734793 upstr_intron -41 -0.7142857 CTTCCCTCCGGGACTGCAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT mutant NA NA NA NA NA 2468 1275 0.9998712 0.9961764 0.9980238 NA NA 0.9348618 0.8199235 NA NA 0.06500939 0.1762528 NA 0.8773927 NA 0.1206311 NA FALSE NA 0 -0.772 . intron_variant MODIFIER SOX5 HGNC 11201 ENST00000309359 5/14 1 NA GTA T,C 8.238e-06 12:23734793 SOX5 HGNC Symbol protein_coding 1033044 ENSG00000134532 ENSE00003663308 intron_variant -0.473378 0.0847 0.0112 0.061011 0.540543 0.0455939 0.9993989 TRUE 8.3913e-06 ENSE00001602061_BRK ENSE00001602061 BRK 12 23887573 23887742 - 45 69 56 A,G; T,T NA NA NA ATATATTTTTTAAATTGTAAGTATATTGAAATTATGATTTCTGGGCTGGATCTGTTGCTGGAGCAAATTGATTTTGTGTTGTTGCTGTAGAAGCTGCTGCTGCTGTCTTGCAATAAGTGAAGAAATTGCACATGAGAAATTTACAAGTATATTGTAGTCCCGGAGGGAAG 23734638 23734808 NA NA NA NA NA NA CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACTTATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGCCCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT CTTCCCTCCGGGACTACAATATACTTGTAAATTTCTCATGTGCAATTTCTTCACAGATTGCAAGACAGCAGCAGCAGCTTCTACAGCAACAACACAAAATCAATTTGCTCCAGCAACAGATCCAGGTCAGAAATCATAATTTCAATATACTTACAATTTAAAAAATATAT control NA NA NA NA NA 921 1762 0 0.0001815026 9.07513e-05 NA NA 0.9348618 0.8199235 NA NA -0.9348618 -0.819742 NA 0.8773927 NA -0.8773019 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SOX5 NA NA NA ENSG00000134532 ENSE00003663308 NA NA NA NA NA NA NA 0.9993989 TRUE NA ENSE00001602153_000 ENSE00001602153 000 15 74368204 74368373 - 36 87 47 NA NA NA NA NA TCTTCCTTCCACATCCCTCCCTCTGCAAAGCCTCACCTGTGTCACGTGTGCGTTCAGCAGCGCCCGCTCCTTTATGGTCTGCTGTAACCACCGCTGGAGGACCGCTTCTCTGCAGCTCGAGGACTGGATGGTGAAGAGTGAGAAGTTTTGATCTGGGGAGCTCAGGCAGT 74075862 74076032 NA NA NA NA NA NA ACTGCCTGAGCTCCCCAGATCAAAACTTCTCACTCTTCACCATCCAGTCCTCGAGCTGCAGAGAAGCGGTCCTCCAGCGGTGGTTACAGCAGACCATAAAGGAGCGGGCGCTGCTGAACGCACACGTGACACAGGTGAGGCTTTGCAGAGGGAGGGATGTGGAAGGAAGA ACTGCCTGAGCTCCCCAGATCAAAACTTCTCACTCTTCACCATCCAGTCCTCGAGCTGCAGAGAAGCGGTCCTCCAGCGGTGGTTACAGCAGACCATAAAGGAGCGGGCGCTGCTGAACGCACACGTGACACAGGTGAGGCTTTGCAGAGGGAGGGATGTGGAAGGAAGA natural NA NA NA NA NA 1324 2609 0.8861745 0.7726605 0.8294175 NA NA 0.8861745 0.7726605 NA NA 0 0 NA 0.8294175 NA 0 NA FALSE NA NA NA NA NA NA GOLGA6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GOLGA6A NA NA NA ENSG00000159289 ENSE00002484842 NA NA NA NA NA NA NA 0.2244114 FALSE NA ENSE00001602153_001 ENSE00001602153 001 15 74368204 74368373 - 36 87 47 G A 74368255 1836 119 TCTTCCTTCCACATCCCTCCCTCTGCAAAGCCTCACCTGTGTCACGTGTGCATTCAGCAGCGCCCGCTCCTTTATGGTCTGCTGTAACCACCGCTGGAGGACCGCTTCTCTGCAGCTCGAGGACTGGATGGTGAAGAGTGAGAAGTTTTGATCTGGGGAGCTCAGGCAGT 74075862 74076032 74075913 74075914 74075914 exon -16 0.8275862 ACTGCCTGAGCTCCCCAGATCAAAACTTCTCACTCTTCACCATCCAGTCCTCGAGCTGCAGAGAAGCGGTCCTCCAGCGGTGGTTACAGCAGACCATAAAGGAGCGGGCGCTGCTGAATGCACACGTGACACAGGTGAGGCTTTGCAGAGGGAGGGATGTGGAAGGAAGA ACTGCCTGAGCTCCCCAGATCAAAACTTCTCACTCTTCACCATCCAGTCCTCGAGCTGCAGAGAAGCGGTCCTCCAGCGGTGGTTACAGCAGACCATAAAGGAGCGGGCGCTGCTGAACGCACACGTGACACAGGTGAGGCTTTGCAGAGGGAGGGATGTGGAAGGAAGA mutant NA NA NA NA NA 152 85 1 1 1 NA NA 0.8861745 0.7726605 NA NA 0.1138255 0.2273395 NA 0.8294175 NA 0.1705825 NA FALSE NA 0.033 0.001 rs146226196 upstream_gene_variant MODIFIER GOLGA6A HGNC 13567 ENST00000562157 rs146226196 1 A:0.0036 A:0.0121 A:0.0029 NA A:0 A:0 A:0 A:0.0123 A:0.0005 CGT G,A 0.00153 15:74075914 GOLGA6A HGNC Symbol protein_coding 12693 ENSG00000159289 ENSE00002484842 synonymous_variant -0.508434 0.07083 0.00841 0.553676 0.8001813 0 0.2244114 FALSE 0.00124643 ENSE00001602153_BRK ENSE00001602153 BRK 15 74368204 74368373 - 36 87 47 A,G; T,T NA NA NA TCTTCCTTCCACATCCCTCCCTCTGCAAAGCCTCGGCTGTGTCACGTGTGCGTTCAGCAGCGCCCGCTCCTTTATGGTCTGCTGTAACCACCGCTGGAGGACCGCTTCTCTGCAGCTCGAGGAAAGGATGGTGAAGAGTGAGAAGTTTTGATCTGGGGAGCTCAGGCAGT 74075862 74076032 NA NA NA NA NA NA ACTGCCTGAGCTCCCCAGATCAAAACTTCTCACTCTTCACCATCCTTTCCTCGAGCTGCAGAGAAGCGGTCCTCCAGCGGTGGTTACAGCAGACCATAAAGGAGCGGGCGCTGCTGAACGCACACGTGACACAGCCGAGGCTTTGCAGAGGGAGGGATGTGGAAGGAAGA ACTGCCTGAGCTCCCCAGATCAAAACTTCTCACTCTTCACCATCCAGTCCTCGAGCTGCAGAGAAGCGGTCCTCCAGCGGTGGTTACAGCAGACCATAAAGGAGCGGGCGCTGCTGAACGCACACGTGACACAGGTGAGGCTTTGCAGAGGGAGGGATGTGGAAGGAAGA control NA NA NA NA NA 503 125 0.009109998 0 0.004554999 NA NA 0.8861745 0.7726605 NA NA -0.8770645 -0.7726605 NA 0.8294175 NA -0.8248625 NA TRUE NA NA NA NA NA NA GOLGA6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GOLGA6A NA NA NA ENSG00000159289 ENSE00002484842 NA NA NA NA NA NA NA 0.2244114 FALSE NA ENSE00001602316_000 ENSE00001602316 000 1 145566641 145566810 + 45 90 35 NA NA NA NA NA AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 NA NA NA NA NA NA AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG natural 90 60 0.9775832 0.9958904 0.9867368 3241 3316 0.9637756 0.832871 0.8983233 0.9775832 0.9958904 0.9637756 0.832871 0 0 0 0 0.9867368 0.8983233 0 0 0 FALSE FALSE NA NA NA NA NA ANKRD35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA ENSG00000198483 NA NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001602316_002 ENSE00001602316 002 1 145566641 145566810 + 45 90 35 T C 145566658 3268 18 AATGACTTGGAGCCTCACTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868427 145868428 145868428 upstr_intron -28 -0.6 AATGACTTGGAGCCTCACTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 152 116 0.9941719 0.9976699 0.9959209 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03039625 0.1647989 0.9867368 0.8983233 NA 0.09759757 NA FALSE NA 0 -0.412 . intron_variant MODIFIER ANKRD35 HGNC 26323 ENST00000355594 10/13 rs376003808 1 NA C:0.0005 C:0 ATT T,C 3.295e-05 1:145868426 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA intron_variant 1.073951 0.09993 0.01607 0.087844 0.8317477 0.0730561 4.676361e-13 FALSE 1.62763e-05 ENSE00001602316_003 ENSE00001602316 003 1 145566641 145566810 + 45 90 35 G T 145566661 3269 21 AATGACTTGGAGCCTCATTGTTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868424 145868425 145868425 upstr_intron -25 -0.5333333 AATGACTTGGAGCCTCATTGTTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 270 132 1 0.9898816 0.9949408 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03622437 0.1570106 0.9867368 0.8983233 NA 0.09661748 NA FALSE NA 0 0.402 . intron_variant MODIFIER ANKRD35 HGNC 26323 ENST00000355594 10/13 rs370412219 1 NA T:0.0002 T:0 GGT G,T 8.237e-06 1:145868423 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA intron_variant 0.985506 0.1465 0.03347 0.087844 0.7817491 0.0740448 4.676361e-13 FALSE 4.06749e-06 ENSE00001602316_005 ENSE00001602316 005 1 145566641 145566810 + 45 90 35 C T 145566683 3271 43 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTTAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868402 145868403 145868403 upstr_intron -3 -0.04444444 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTTAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 359 232 1 0.981135 0.9905675 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03622437 0.148264 0.9867368 0.8983233 NA 0.0922442 NA FALSE NA 0.993 0.736 . splice_region_variant&intron_variant LOW ANKRD35 HGNC 26323 ENST00000355594 10/13 1 NA TCA C,T 8.236e-06 1:145868401 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA splice_acceptor_variant 1.719393 0.88843 0.31263 0.162113 0.8096293 0.370791 4.676361e-13 FALSE 4.06187e-06 ENSE00001602316_008 ENSE00001602316 008 1 145566641 145566810 + 45 90 35 G C 145566694 3274 54 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGACTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868391 145868392 145868392 exon 9 0.1 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGACTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 206 121 1 1 1 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03622437 0.167129 0.9867368 0.8983233 NA 0.1016767 NA FALSE NA 0.432 -0.024 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 11/14 1 possibly_damaging(0.84) NA AGT G,C 8.236e-06 1:145868390 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA missense_variant 4.250118 0.94239 0.58069 0.706298 0.9968169 0 4.676361e-13 FALSE 4.06105e-06 ENSE00001602316_009 ENSE00001602316 009 1 145566641 145566810 + 45 90 35 C T 145566707 3275 67 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGTTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868378 145868379 145868379 exon 22 0.2444444 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGTTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 1586 56 0.9978526 1 0.9989263 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.034077 0.167129 0.9867368 0.8983233 NA 0.100603 NA FALSE NA 0.937 -0.019 . synonymous_variant LOW ANKRD35 HGNC 26323 ENST00000355594 11/14 1 NA GCT C,T 8.236e-06 1:145868377 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA synonymous_variant 1.579595 0.94742 0.59878 0.706298 0.6717178 0 4.676361e-13 FALSE 4.06091e-06 ENSE00001602316_012 ENSE00001602316 012 1 145566641 145566810 + 45 90 35 C T 145566720 3278 80 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTTAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868365 145868366 145868366 exon 35 0.3888889 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTTAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 323 163 1 0.997078 0.998539 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03622437 0.164207 0.9867368 0.8983233 NA 0.1002157 NA FALSE NA 0.988 3.844 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 11/14 1 possibly_damaging(0.719) NA TCA C,T 8.236e-06 1:145868364 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA missense_variant 6.811966 0.97712 0.93554 0.706298 0.9983675 0 4.676361e-13 FALSE 4.06091e-06 ENSE00001602316_014 ENSE00001602316 014 1 145566641 145566810 + 45 90 35 C T 145566740 3280 100 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTTGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868345 145868346 145868346 exon -36 0.6111111 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTTGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 11 97 1 1 1 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03622437 0.167129 0.9867368 0.8983233 NA 0.1016767 NA FALSE NA 0.955 1.416 rs148940814 missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 11/14 rs148940814 1 probably_damaging(0.984) NA T:0.0002 T:0 TCG C,T 8.236e-06 1:145868344 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA synonymous_variant 8.072343 0.97708 0.89928 0.706298 0.9991616 0 4.676361e-13 FALSE 1.21824e-05 ENSE00001602316_015 ENSE00001602316 015 1 145566641 145566810 + 45 90 35 G A 145566741 3281 101 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCAGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868344 145868345 145868345 exon -35 0.6222222 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCAGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 128 194 0.999678 1 0.999839 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03590241 0.167129 0.9867368 0.8983233 NA 0.1015157 NA FALSE NA 0.964 3.312 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 11/14 rs374436917 1 possibly_damaging(0.731) NA A:0.0002 A:0 CGG G,A 4.118e-05 1:145868343 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA stop_gained 5.144098 0.97802 0.90385 0.706298 0.9892679 0 4.676361e-13 FALSE 4.46697e-05 ENSE00001602316_018 ENSE00001602316 018 1 145566641 145566810 + 45 90 35 G A 145566752 3284 112 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATACTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868333 145868334 145868334 exon -24 0.7444444 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATACTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 789 27 0.9983189 0.9292764 0.9637976 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03454322 0.0964054 0.9867368 0.8983233 NA 0.06547431 NA FALSE NA 0.036 -0.058 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:145868332 ANKRD35 HGNC Symbol protein_coding 19306 NA NA synonymous_variant 1.868227 0.93807 0.0713 0.706298 0.947867 0 4.676361e-13 FALSE 4.06085e-06 ENSE00001602316_019 ENSE00001602316 019 1 145566641 145566810 + 45 90 35 G T 145566752 3285 112 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATTCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868333 145868334 145868334 exon -24 0.7444444 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATTCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 115 468 0.9986648 0.9965947 0.9976298 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03488915 0.1637237 0.9867368 0.8983233 NA 0.09930643 NA FALSE NA 0.036 -0.058 NA NA NA ANKRD35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA ENSG00000198483 NA synonymous_variant 1.718397 0.9439 0.25621 0.706298 0.9547186 0 4.676361e-13 FALSE 4.06085e-06 ENSE00001602316_020 ENSE00001602316 020 1 145566641 145566810 + 45 90 35 C T 145566755 3286 115 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTTGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868330 145868331 145868331 exon -21 0.7777778 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTTGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 1299 924 0.9362376 1 0.9681188 0.9775832 0.9958904 0.9637756 0.832871 NA NA -0.02753804 0.167129 0.9867368 0.8983233 NA 0.06979548 NA FALSE NA 0.847 1.054 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 11/14 1 benign(0.033) NA TCG C,T 4.942e-05 1:145868329 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA synonymous_variant 5.708306 0.96519 0.43039 0.706298 0.9985363 0 4.676361e-13 FALSE 4.06081e-05 ENSE00001602316_022 ENSE00001602316 022 1 145566641 145566810 + 45 90 35 C A 145566757 3288 117 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGACTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868328 145868329 145868329 exon -19 0.8 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGACTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 764 15 0.9066493 1 0.9533247 0.9775832 0.9958904 0.9637756 0.832871 NA NA -0.05712631 0.167129 0.9867368 0.8983233 NA 0.05500135 NA FALSE NA 0.98 0.572 . synonymous_variant LOW ANKRD35 HGNC 26323 ENST00000355594 11/14 1 NA GCC C,A 8.236e-06 1:145868327 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA missense_variant 2.530702 0.96742 0.6045 0.706298 0.6600834 0 4.676361e-13 FALSE 4.06095e-06 ENSE00001602316_023 ENSE00001602316 023 1 145566641 145566810 + 45 90 35 T C 145566759 3289 119 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCCTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868326 145868327 145868327 exon -17 0.8222222 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCCTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 190 135 0.9975928 0.9988267 0.9982097 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.03381715 0.1659557 0.9867368 0.8983233 NA 0.09988642 NA FALSE NA 0.997 3.917 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 11/14 rs587692787 1 probably_damaging(0.999) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTT T,C 8.236e-05 1:145868325 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA missense_variant 6.368394 0.97272 0.94263 0.706298 0.9987002 0 4.676361e-13 FALSE 6.90344e-05 ENSE00001602316_024 ENSE00001602316 024 1 145566641 145566810 + 45 90 35 A G 145566774 3290 134 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCGGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868311 145868312 145868312 exon -2 0.9888889 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCGGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 855 278 0.9863589 0.985505 0.985932 0.9775832 0.9958904 0.9637756 0.832871 NA NA 0.0225833 0.152634 0.9867368 0.8983233 NA 0.08760864 NA FALSE NA 1 2.863 NA NA NA ANKRD35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:145868310 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA splice_donor_variant 3.813005 0.96286 0.83248 0.706298 0.9926683 0 4.676361e-13 FALSE 2.03064e-05 ENSE00001602316_027 ENSE00001602316 027 1 145566641 145566810 + 45 90 35 A G 145566778 3293 138 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTGTGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868307 145868308 145868308 downstr_intron 3 1.088235 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTGTGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant 23 46 0.85 0.9361337 0.8930669 13 44 0.8 0.8057139 0.8028569 0.9775832 0.9958904 0.9637756 0.832871 -0.1275832 -0.05975671 -0.1637756 -0.02715714 0.9867368 0.8983233 -0.09366998 -0.09546639 0.001796407 FALSE FALSE 0.01 -0.334 . splice_region_variant&intron_variant LOW ANKRD35 HGNC 26323 ENST00000355594 11/13 1 NA TAT A,G 8.236e-06 1:145868306 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA splice_region_variant 1.713092 0.74318 0.04513 0.074388 0.7517491 0.283517 4.676361e-13 FALSE 4.06144e-06 ENSE00001602316_029 ENSE00001602316 029 1 145566641 145566810 + 45 90 35 T C 145566788 3295 148 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCCGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 145868297 145868298 145868298 downstr_intron 13 1.382353 AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCCGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG mutant NA NA NA NA NA 657 62 0.8015157 1 0.9007579 0.9775832 0.9958904 0.9637756 0.832871 NA NA -0.1622599 0.167129 0.9867368 0.8983233 NA 0.002434545 NA FALSE NA 0 -0.338 . intron_variant MODIFIER ANKRD35 HGNC 26323 ENST00000355594 11/13 1 NA CTG T,C 8.236e-06 1:145868296 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA intron_variant 1.756709 0.10942 0.00029 0.074388 0.7174817 0.14348 4.676361e-13 FALSE 4.06223e-06 ENSE00001602316_BRK ENSE00001602316 BRK 1 145566641 145566810 + 45 90 35 A,G; T,T NA NA NA AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCTTATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGCCATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG 145868275 145868445 NA NA NA NA NA NA AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCTTATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGCCATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG AATGACTTGGAGCCTCATTGGTTGCCTCTTTCCTCTTGGCCTCAGATCAAGGAGTTGTTGAAGAAGCTGGAGCAGCTTTCAGAAGAGGTTCTAGCAATTCGGGGAGAAAATGCTCGCCTTGCCCTGCAGCTGCAGGTATGTTTTGGCTGTCAGGGATGGTGCTGGAGAAG control 39 41 0 0 0 38 674 0 0.04025688 0.02012844 0.9775832 0.9958904 0.9637756 0.832871 -0.9775832 -0.9958904 -0.9637756 -0.7926141 0.9867368 0.8983233 -0.9867368 -0.8781949 0.108542 TRUE TRUE NA NA NA NA NA ANKRD35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA ENSG00000198483 NA NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001603482_000 ENSE00001603482 000 10 133961415 133961584 + 41 99 30 NA NA NA NA NA GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 NA NA NA NA NA NA GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC natural 50 87 0.8880882 0.9213254 0.9047068 202 519 0.9995918 0.9963178 0.9979548 0.8880882 0.9213254 0.9995918 0.9963178 0 0 0 0 0.9047068 0.9979548 0 0 0 FALSE FALSE NA NA NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003506621 NA NA NA NA NA NA NA 0.05393183 FALSE NA ENSE00001603482_001 ENSE00001603482 001 10 133961415 133961584 + 41 99 30 C T 133961425 2946 11 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGATCTGGTTCTC 132147910 132148080 132147920 132147921 132147921 upstr_intron -31 -0.7317073 GAGAACCAGATCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 317 313 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0 -1.39 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/13 rs369954215 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 ACC C,T 9.139e-05 10:132147921 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 intron_variant 0.311454 0.16441 0.00227 0.056701 0.7877774 0.0712279 0.05393183 FALSE 5.48805e-05 ENSE00001603482_002 ENSE00001603482 002 10 133961415 133961584 + 41 99 30 C G 133961427 2947 13 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGCGGTCTGGTTCTC 132147910 132148080 132147922 132147923 132147923 upstr_intron -29 -0.6829268 GAGAACCAGACCGCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 29 336 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0 -0.415 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132147923 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 intron_variant 0.13662 0.16511 0.00442 0.056701 0.722081 0.0712279 0.05393183 FALSE 1.07105e-05 ENSE00001603482_003 ENSE00001603482 003 10 133961415 133961584 + 41 99 30 C T 133961427 2948 13 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGAGGTCTGGTTCTC 132147910 132148080 132147922 132147923 132147923 upstr_intron -29 -0.6829268 GAGAACCAGACCTCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 460 140 0.9065185 1 0.9532593 0.8880882 0.9213254 0.9995918 0.9963178 NA NA -0.09307332 0.003682179 0.9047068 0.9979548 NA -0.04469557 NA FALSE NA 0 -0.415 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003506621 intron_variant 0.311106 0.13104 0.00242 0.056701 0.8243683 0.0712279 0.05393183 FALSE 5.35527e-06 ENSE00001603482_005 ENSE00001603482 005 10 133961415 133961584 + 41 99 30 C T 133961433 2950 19 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAAGTGAGGGGTCTGGTTCTC 132147910 132148080 132147928 132147929 132147929 upstr_intron -23 -0.5365854 GAGAACCAGACCCCTCACTTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 1754 113 0.9793116 1 0.9896558 0.8880882 0.9213254 0.9995918 0.9963178 NA NA -0.02028019 0.003682179 0.9047068 0.9979548 NA -0.008299006 NA FALSE NA 0 -0.856 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/13 1 NA CCT C,T 2.485e-05 10:132147929 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 intron_variant 0.167278 0.18616 0.02159 0.056701 0.5959814 0.13972 0.05393183 FALSE 2.50951e-05 ENSE00001603482_006 ENSE00001603482 006 10 133961415 133961584 + 41 99 30 C T 133961435 2951 21 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATAAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147930 132147931 132147931 upstr_intron -21 -0.4878049 GAGAACCAGACCCCTCACCTTATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 33 221 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0 -0.548 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/13 1 NA TCA C,T 2.484e-05 10:132147931 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 intron_variant 0.096461 0.13737 0.00899 0.056701 0.6041425 0.0901703 0.05393183 FALSE 1.47203e-05 ENSE00001603482_009 ENSE00001603482 009 10 133961415 133961584 + 41 99 30 G A 133961452 2954 38 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGTAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147947 132147948 132147948 upstr_intron -4 -0.07317073 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTACAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 41 20 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0 -0.742 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW JAKMIP3 HGNC 23523 ENST00000477275 3/13 rs376007515 1 NA A:0.0002 A:0 TGC G,A 8.264e-06 10:132147948 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 splice_region_variant -0.913661 0.07289 0.00966 0.056701 0.4423243 0.162069 0.05393183 FALSE NA ENSE00001603482_010 ENSE00001603482 010 10 133961415 133961584 + 41 99 30 G C 133961455 2955 41 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATGTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147950 132147951 132147951 upstr_intron -1 0 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCACATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant 54 20 0 0 0 NA NA NA NA NA 0.8880882 0.9213254 0.9995918 0.9963178 -0.8880882 -0.9213254 NA NA 0.9047068 0.9979548 -0.9047068 NA NA NA TRUE 1 3.993 . splice_acceptor_variant&non_coding_transcript_variant HIGH JAKMIP3 HGNC 23523 ENST00000477275 3/13 1 NA AGA G,C 8.262e-06 10:132147951 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 splice_acceptor_variant 3.017004 0.99401 0.96505 0.056701 0.9856705 0.842629 0.05393183 FALSE 4.33294e-06 ENSE00001603482_011 ENSE00001603482 011 10 133961415 133961584 + 41 99 30 A G 133961461 2956 47 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGCTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147956 132147957 132147957 exon 6 0.06060606 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAGCAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 181 86 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0.005 -0.046 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 1 NA AAC A,G 8.261e-06 10:132147957 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 synonymous_variant -0.389802 0.25074 0.29483 0.580535 0.3020727 0 0.05393183 FALSE NA ENSE00001603482_012 ENSE00001603482 012 10 133961415 133961584 + 41 99 30 A G 133961463 2957 49 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTCGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147958 132147959 132147959 exon 8 0.08080808 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACGAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 147 136 0.9854225 1 0.9927112 0.8880882 0.9213254 0.9995918 0.9963178 NA NA -0.01416933 0.003682179 0.9047068 0.9979548 NA -0.005243577 NA FALSE NA 0.745 3.222 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 rs368625157 1 NA G:0 G:0.0001 CAA A,G 4.13e-05 10:132147959 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 missense_variant -0.090576 0.82047 0.90977 0.580535 0.3934933 0 0.05393183 FALSE 2.11767e-05 ENSE00001603482_013 ENSE00001603482 013 10 133961415 133961584 + 41 99 30 T C 133961466 2958 52 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCGTTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147961 132147962 132147962 exon 11 0.1111111 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAACGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 227 95 1 0.9864431 0.9932215 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 -0.009874726 0.9047068 0.9979548 NA -0.004733277 NA FALSE NA 1 7.169 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 1 NA ATG T,C 8.26e-06 10:132147962 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 missense_variant 2.199126 0.98211 0.99088 0.580535 0.7056802 0 0.05393183 FALSE 8.43469e-06 ENSE00001603482_017 ENSE00001603482 017 10 133961415 133961584 + 41 99 30 C G 133961483 2962 69 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCCAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147978 132147979 132147979 exon 28 0.2828283 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTGGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 80 77 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 1 3.991 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132147979 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 missense_variant 4.188789 0.98904 0.98552 0.580535 0.9963297 0 0.05393183 FALSE 4.15089e-06 ENSE00001603482_019 ENSE00001603482 019 10 133961415 133961584 + 41 99 30 G A 133961484 2964 70 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCTGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147979 132147980 132147980 exon 29 0.2929293 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCAGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 45 244 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 1 4.817 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132147980 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 missense_variant 2.10109 0.98064 0.95177 0.580535 0.3564514 0 0.05393183 FALSE 3.31901e-05 ENSE00001603482_021 ENSE00001603482 021 10 133961415 133961584 + 41 99 30 C T 133961488 2966 74 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTAAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147983 132147984 132147984 exon 33 0.3333333 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTTAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 10 37 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0 -0.863 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 COSM465449 1 NA TCA C,T 1.652e-05 10:132147984 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 synonymous_variant -0.060131 0.4557 0.07344 0.646311 0.6043224 0 0.05393183 FALSE NA ENSE00001603482_022 ENSE00001603482 022 10 133961415 133961584 + 41 99 30 A G 133961489 2967 75 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCCGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147984 132147985 132147985 exon 34 0.3434343 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCGGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant 38 49 0.85 0.85 0.85 NA NA NA NA NA 0.8880882 0.9213254 0.9995918 0.9963178 -0.03808821 -0.07132539 NA NA 0.9047068 0.9979548 -0.0547068 NA NA NA FALSE 0.005 1.55 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 rs371971797 1 NA G:0 G:0.0001 CAG A,G 2.477e-05 10:132147985 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 missense_variant 2.672455 0.96572 0.70573 0.646311 0.9614577 0 0.05393183 FALSE 8.67245e-05 ENSE00001603482_023 ENSE00001603482 023 10 133961415 133961584 + 41 99 30 C T 133961494 2968 80 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCATGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147989 132147990 132147990 exon 39 0.3939394 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACATGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 340 248 0.96787 0.9715463 0.9697081 0.8880882 0.9213254 0.9995918 0.9963178 NA NA -0.03172181 -0.02477156 0.9047068 0.9979548 NA -0.02824668 NA FALSE NA 0 -3.799 rs2818384 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 rs2818384&COSM3751629 1 T:0.4255 T:0.2821 T:0.7233 NA T:0.3065 T:0.5895 T:0.362 T:0.3462 T:0.6064 ACG C,T 0.537 10:132147990 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 synonymous_variant 1.020741 0.63225 0.01933 0.646311 0.472338 0 0.05393183 FALSE 0.553922 ENSE00001603482_024 ENSE00001603482 024 10 133961415 133961584 + 41 99 30 G A 133961500 2969 86 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGTACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132147995 132147996 132147996 exon 45 0.4545455 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTACAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 12 15 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0 -1.722 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 1 NA TGC G,A 1.652e-05 10:132147996 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 synonymous_variant 0.015701 0.9034 0.1073 0.646311 0.5478117 0 0.05393183 FALSE NA ENSE00001603482_026 ENSE00001603482 026 10 133961415 133961584 + 41 99 30 G A 133961507 2971 93 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGTGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132148002 132148003 132148003 exon -48 0.5252525 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACACCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 36 666 1 0.9905455 0.9952728 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 -0.005772297 0.9047068 0.9979548 NA -0.002682062 NA FALSE NA 0.341 2.413 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 1 NA CGC G,A 8.257e-06 10:132148003 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 missense_variant 1.352546 0.26934 0.32803 0.646311 0.9471214 0 0.05393183 FALSE NA ENSE00001603482_027 ENSE00001603482 027 10 133961415 133961584 + 41 99 30 A G 133961512 2972 98 GGCCACAGTGCTGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCCCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132148007 132148008 132148008 exon -43 0.5757576 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGGGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 72 148 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0.4 1.191 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/14 1 NA GAG A,G 8.257e-06 10:132148008 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 synonymous_variant -0.865142 0.77246 0.44391 0.646311 0.46253 0 0.05393183 FALSE 1.24029e-05 ENSE00001603482_037 ENSE00001603482 037 10 133961415 133961584 + 41 99 30 C A 133961571 2982 157 GGCCACAGTGCTGTCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132148066 132148067 132148067 downstr_intron 17 1.586207 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGACAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 41 19 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0 -1.081 rs183845236 intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/13 rs183845236 1 A:0.0018 A:0 A:0 NA A:0.0079 A:0 A:0.001 GCC C,A 0.0006707 10:132148067 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 intron_variant 0.197995 0.11682 0.00741 0.056701 0.611695 0.0464013 0.05393183 FALSE 0.000847113 ENSE00001603482_039 ENSE00001603482 039 10 133961415 133961584 + 41 99 30 A T 133961573 2984 159 GGCCACAGTGCAGGCCATCCACTCAGCTACCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATCTGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 132148068 132148069 132148069 downstr_intron 19 1.655172 GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCTGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC mutant NA NA NA NA NA 22 115 1 1 1 0.8880882 0.9213254 0.9995918 0.9963178 NA NA 0.000408173 0.003682179 0.9047068 0.9979548 NA 0.002045176 NA FALSE NA 0 -0.278 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 4/13 1 NA CAG A,T 8.284e-06 10:132148069 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003506621 intron_variant -0.297079 0.06099 0.01574 0.056701 0.6857782 0.0464013 0.05393183 FALSE 1.90962e-05 ENSE00001603482_BRK ENSE00001603482 BRK 10 133961415 133961584 + 41 99 30 A,G; T,T NA NA NA GGCCACAGTGCTGGCCATCCACTCAGCTGGCTCAAGCTCCAGGATCCTGAACTCCAGCAGCTCGTTTTGGTCTCTGGCGTCCTGCACCTCGTGTCTGAGCCGAGCCTCTTCCGTCTCCATTTGTTTGATAAGCAACATAAAAGATGCATGAGGTGAGGGGTCTGGTTCTC 132147910 132148080 NA NA NA NA NA NA GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCTTATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGCCAGCTGAGTGGATGGCCAGCACTGTGGCC GAGAACCAGACCCCTCACCTCATGCATCTTTTATGTTGCAGATCAAACAAATGGAGACGGAAGAGGCTCGGCTCAGACACGAGGTGCAGGACGCCAGAGACCAAAACGAGCTGCTGGAGTTCAGGATCCTGGAGCTTGAGGTAGCTGAGTGGATGGCCAGCACTGTGGCC control 429 440 0 0 0 NA NA NA NA NA 0.8880882 0.9213254 0.9995918 0.9963178 -0.8880882 -0.9213254 NA NA 0.9047068 0.9979548 -0.9047068 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003506621 NA NA NA NA NA NA NA 0.05393183 FALSE NA ENSE00001603717_000 ENSE00001603717 000 1 19518925 19519094 - 50 60 60 NA NA NA NA NA GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 NA NA NA NA NA NA GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG natural 49 46 0.9741923 0.9748218 0.974507 2667 1951 0.9956336 0.9073647 0.9514992 0.9741923 0.9748218 0.9956336 0.9073647 0 0 0 0 0.974507 0.9514992 0 0 0 FALSE FALSE NA NA NA NA NA UBR4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBR4 NA NA NA ENSG00000127481 ENSE00001603717 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001603717_001 ENSE00001603717 001 1 19518925 19519094 - 50 60 60 T C 19518948 522 147 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCGTACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192453 19192454 19192454 downstr_intron 27 1.55102 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCGTACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 756 827 0.9972993 0.9419016 0.9696004 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.001665623 0.03453692 0.974507 0.9514992 NA 0.01810127 NA FALSE NA 0 -1.791 . intron_variant MODIFIER UBR4 HGNC 30313 ENST00000375254 10/105 1 NA ATG T,C 7.413e-05 1:19192454 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 intron_variant -0.199013 0.17323 0.04942 0.156188 0.2504262 0.0507372 1 TRUE 9.35446e-05 ENSE00001603717_002 ENSE00001603717 002 1 19518925 19519094 - 50 60 60 A G 19518962 523 133 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTACCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192467 19192468 19192468 downstr_intron 13 1.265306 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTACCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 1058 177 0.9988272 1 0.9994136 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.003193563 0.0926353 0.974507 0.9514992 NA 0.04791443 NA FALSE NA 0.022 0.836 . intron_variant MODIFIER UBR4 HGNC 30313 ENST00000375254 10/105 1 NA GAT A,G 1.647e-05 1:19192468 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 intron_variant 0.184896 0.22674 0.332 0.156188 0.4193314 0.092701 1 TRUE 4.06699e-06 ENSE00001603717_003 ENSE00001603717 003 1 19518925 19519094 - 50 60 60 C T 19518965 524 130 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCATATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192470 19192471 19192471 downstr_intron 10 1.204082 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCATATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 166 95 1 1 1 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.004366363 0.0926353 0.974507 0.9514992 NA 0.04850083 NA FALSE NA 0 -7.235 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:19192471 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 intron_variant -0.348104 0.16783 0.08824 0.156188 0.7915644 0.143237 1 TRUE 7.73005e-05 ENSE00001603717_004 ENSE00001603717 004 1 19518925 19519094 - 50 60 60 C A 19518965 525 130 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCTTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192470 19192471 19192471 downstr_intron 10 1.204082 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCTTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 386 234 0.9929648 0.9370338 0.9649993 0.9741923 0.9748218 0.9956336 0.9073647 NA NA -0.002668871 0.02966905 0.974507 0.9514992 NA 0.01350009 NA FALSE NA 0 -7.235 NA NA NA UBR4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBR4 NA NA NA ENSG00000127481 ENSE00001603717 intron_variant -0.336957 0.18104 0.08002 0.156188 0.6864128 0.143237 1 TRUE 4.06845e-06 ENSE00001603717_005 ENSE00001603717 005 1 19518925 19519094 - 50 60 60 G A 19518966 526 129 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGTGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192471 19192472 19192472 downstr_intron 9 1.183673 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGTGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 142 164 1 0.9832428 0.9916214 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.004366363 0.07587808 0.974507 0.9514992 NA 0.04012222 NA FALSE NA 0 -0.22 . intron_variant MODIFIER UBR4 HGNC 30313 ENST00000375254 10/105 1 NA CGC G,A 8.236e-06 1:19192472 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 intron_variant 0.423568 0.22289 0.09918 0.156188 0.5722575 0.293125 1 TRUE 8.13617e-06 ENSE00001603717_006 ENSE00001603717 006 1 19518925 19519094 - 50 60 60 C G 19518967 527 128 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAACCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192472 19192473 19192473 downstr_intron 8 1.163265 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAACCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 69 1407 1 0.9904973 0.9952486 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.004366363 0.08313255 0.974507 0.9514992 NA 0.04374946 NA FALSE NA 0 -0.062 . splice_region_variant&intron_variant LOW UBR4 HGNC 30313 ENST00000375254 10/105 1 NA GCT C,G 8.236e-06 1:19192473 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 splice_region_variant 0.439491 0.27133 0.33157 0.156188 0.4726639 0.302438 1 TRUE 8.13584e-06 ENSE00001603717_007 ENSE00001603717 007 1 19518925 19519094 - 50 60 60 C G 19518979 528 116 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGCTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192484 19192485 19192485 exon -5 0.9333333 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGCTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant 55 27 0.987041 1 0.9935205 611 753 0.9966594 0.9570206 0.97684 0.9741923 0.9748218 0.9956336 0.9073647 0.01284868 0.02517821 0.001025788 0.04965586 0.974507 0.9514992 0.01901344 0.02534083 0.006327384 FALSE FALSE 1 7.439 . missense_variant MODERATE UBR4 HGNC 30313 ENST00000375254 10/106 1 probably_damaging(0.955) NA ACC C,G 8.236e-06 1:19192485 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 missense_variant 4.903823 0.97379 0.98048 0.706548 0.9983509 0 1 TRUE 4.06679e-06 ENSE00001603717_008 ENSE00001603717 008 1 19518925 19519094 - 50 60 60 C T 19518986 529 109 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGACTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192491 19192492 19192492 exon -12 0.8166667 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGACTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 35 834 0.9464587 0.9043149 0.9253868 0.9741923 0.9748218 0.9956336 0.9073647 NA NA -0.04917489 -0.003049829 0.974507 0.9514992 NA -0.02611236 NA FALSE NA 1 7.439 . missense_variant MODERATE UBR4 HGNC 30313 ENST00000375254 10/106 1 probably_damaging(0.94) NA GCC C,T 4.118e-05 1:19192492 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 missense_variant 5.471413 0.97275 0.97678 0.706548 0.9984952 0 1 TRUE 3.25362e-05 ENSE00001603717_009 ENSE00001603717 009 1 19518925 19519094 - 50 60 60 G A 19518989 530 106 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCTGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192494 19192495 19192495 exon -15 0.7666667 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCTGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant 66 85 0.85 0.8891533 0.8695766 NA NA NA NA NA 0.9741923 0.9748218 0.9956336 0.9073647 -0.1241923 -0.08566853 NA NA 0.974507 0.9514992 -0.1049304 NA NA NA FALSE 1 3.177 rs147369957 missense_variant MODERATE UBR4 HGNC 30313 ENST00000375254 10/106 rs147369957 1 probably_damaging(0.999) NA A:0.0002 A:0.0001 CGG G,A 3.295e-05 1:19192495 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 missense_variant 6.915792 0.92505 0.9194 0.706548 0.9973878 0 1 TRUE 2.84726e-05 ENSE00001603717_010 ENSE00001603717 010 1 19518925 19519094 - 50 60 60 C T 19518991 531 104 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCACCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192496 19192497 19192497 exon -17 0.7333333 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCACCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 517 18 0.8474642 0.941361 0.8944126 0.9741923 0.9748218 0.9956336 0.9073647 NA NA -0.1481694 0.03399629 0.974507 0.9514992 NA -0.05708655 NA FALSE NA 1 7.439 . missense_variant MODERATE UBR4 HGNC 30313 ENST00000375254 10/106 rs200140861 1 probably_damaging(0.929) NA GCG C,T 3.295e-05 1:19192497 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 missense_variant 6.736326 0.97275 0.97678 0.706548 0.9994383 0 1 TRUE 5.28735e-05 ENSE00001603717_012 ENSE00001603717 012 1 19518925 19519094 - 50 60 60 A G 19519023 533 72 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTACGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192528 19192529 19192529 exon 12 0.2 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTACGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 459 276 1 1 1 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.004366363 0.0926353 0.974507 0.9514992 NA 0.04850083 NA FALSE NA 1 1.581 rs145160676 synonymous_variant LOW UBR4 HGNC 30313 ENST00000375254 10/106 rs145160676 1 NA G:0 G:0.0001 CAT A,G 8.236e-06 1:19192529 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 synonymous_variant -0.316488 0.91111 0.88065 0.706548 0.3860276 0 1 TRUE 4.06961e-06 ENSE00001603717_013 ENSE00001603717 013 1 19518925 19519094 - 50 60 60 T C 19519030 534 65 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGGAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192535 19192536 19192536 exon 5 0.08333333 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGGAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 512 534 0.995783 1 0.9978915 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.0001493143 0.0926353 0.974507 0.9514992 NA 0.04639231 NA FALSE NA 1 7.649 . missense_variant MODERATE UBR4 HGNC 30313 ENST00000375254 10/106 1 probably_damaging(0.995) NA TTC T,C 8.237e-06 1:19192536 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 missense_variant 6.227192 0.96762 0.97523 0.706548 0.9990732 0 1 TRUE 4.07113e-06 ENSE00001603717_014 ENSE00001603717 014 1 19518925 19519094 - 50 60 60 C T 19519031 535 64 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCAAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192536 19192537 19192537 exon 4 0.06666667 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCAAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 324 1741 0.9836892 0.960912 0.9723006 0.9741923 0.9748218 0.9956336 0.9073647 NA NA -0.01194445 0.05354727 0.974507 0.9514992 NA 0.02080141 NA FALSE NA 1 7.439 . missense_variant MODERATE UBR4 HGNC 30313 ENST00000375254 10/106 1 probably_damaging(0.99) NA TCG C,T 8.237e-06 1:19192537 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 missense_variant 7.612044 0.97356 0.97663 0.706548 0.9993493 0 1 TRUE 8.14365e-06 ENSE00001603717_015 ENSE00001603717 015 1 19518925 19519094 - 50 60 60 G A 19519032 536 63 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTTGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192537 19192538 19192538 exon 3 0.05 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTTGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 549 24 0.9856185 0.9137282 0.9496734 0.9741923 0.9748218 0.9956336 0.9073647 NA NA -0.01001516 0.006363528 0.974507 0.9514992 NA -0.001825814 NA FALSE NA 1 1.456 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:19192538 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 splice_region_variant 1.627159 0.88822 0.52068 0.706548 0.7025346 0 1 TRUE 2.0361e-05 ENSE00001603717_016 ENSE00001603717 016 1 19518925 19519094 - 50 60 60 G C 19519032 537 63 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTGGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192537 19192538 19192538 exon 3 0.05 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTGGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 176 2624 1 0.9363639 0.968182 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.004366363 0.02899923 0.974507 0.9514992 NA 0.0166828 NA FALSE NA 1 1.456 NA NA NA UBR4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBR4 NA NA NA ENSG00000127481 ENSE00001603717 splice_region_variant 1.447254 0.88406 0.6536 0.706548 0.7047789 0 1 TRUE 2.44332e-05 ENSE00001603717_017 ENSE00001603717 017 1 19518925 19519094 - 50 60 60 G A 19519037 538 58 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTATAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192542 19192543 19192543 upstr_intron -3 -0.03333333 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTATAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 1590 27 0.8019476 0.8931023 0.847525 0.9741923 0.9748218 0.9956336 0.9073647 NA NA -0.193686 -0.01426239 0.974507 0.9514992 NA -0.1039742 NA FALSE NA 1 5.393 . splice_region_variant&intron_variant LOW UBR4 HGNC 30313 ENST00000375254 9/105 rs375006732 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 TGT G,A 0.0001235 1:19192543 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 splice_region_variant 2.053882 0.96093 0.959 0.062308 0.9560268 0.89885 1 TRUE 6.92532e-05 ENSE00001603717_018 ENSE00001603717 018 1 19518925 19519094 - 50 60 60 C A 19519040 539 55 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTTTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192545 19192546 19192546 upstr_intron -6 -0.08333333 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTTTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 278 302 1 0.993469 0.9967345 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.004366363 0.08610428 0.974507 0.9514992 NA 0.04523532 NA FALSE NA 0.025 0.557 . splice_region_variant&intron_variant LOW UBR4 HGNC 30313 ENST00000375254 9/105 rs367587979 1 NA A:0 A:0.0002 ACA C,A 5.766e-05 1:19192546 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 splice_region_variant 2.015664 0.63546 0.20878 0.062308 0.8017994 0.332185 1 TRUE 6.11381e-05 ENSE00001603717_019 ENSE00001603717 019 1 19518925 19519094 - 50 60 60 T C 19519043 540 52 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATGTTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192548 19192549 19192549 upstr_intron -9 -0.1333333 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATGTTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 44 52 0.9432353 1 0.9716176 0.9741923 0.9748218 0.9956336 0.9073647 NA NA -0.05239834 0.0926353 0.974507 0.9514992 NA 0.02011848 NA FALSE NA 0 -1.68 . intron_variant MODIFIER UBR4 HGNC 30313 ENST00000375254 9/105 1 NA ATA T,C 8.237e-06 1:19192549 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 intron_variant 0.936675 0.19134 0.05053 0.099367 0.4334418 0.332185 1 TRUE NA ENSE00001603717_020 ENSE00001603717 020 1 19518925 19519094 - 50 60 60 C T 19519056 541 39 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTATGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192561 19192562 19192562 upstr_intron -22 -0.35 GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTATGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 130 648 1 0.9966418 0.9983209 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.004366363 0.08927713 0.974507 0.9514992 NA 0.04682175 NA FALSE NA 0.043 -0.211 . intron_variant MODIFIER UBR4 HGNC 30313 ENST00000375254 9/105 rs200627407 1 NA ACA C,T 1.647e-05 1:19192562 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 intron_variant 2.149356 0.77479 0.29031 0.099367 0.845872 0.440357 1 TRUE 1.22648e-05 ENSE00001603717_022 ENSE00001603717 022 1 19518925 19519094 - 50 60 60 T G 19519081 543 14 GCATTTATGATGACATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 19192586 19192587 19192587 upstr_intron -47 -0.7666667 GCATTTATGATGACATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG mutant NA NA NA NA NA 273 530 0.9998492 1 0.9999246 0.9741923 0.9748218 0.9956336 0.9073647 NA NA 0.004215521 0.0926353 0.974507 0.9514992 NA 0.04842541 NA FALSE NA 0.005 0.213 . intron_variant MODIFIER UBR4 HGNC 30313 ENST00000375254 9/105 rs571901020 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 TTT T,G 4.118e-05 1:19192587 UBR4 HGNC Symbol protein_coding 135770 ENSG00000127481 ENSE00001603717 intron_variant 0.590699 0.33755 0.21939 0.099367 0.6759871 0.046875 1 TRUE 2.0842e-05 ENSE00001603717_BRK ENSE00001603717 BRK 1 19518925 19519094 - 50 60 60 A,G; T,T NA NA NA GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACTTCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGCCAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG 19192430 19192600 NA NA NA NA NA NA GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACTTCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGCCAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG GCATTTATGATGAAATCTGTCAGCTTGTTCAGATTTTTGTGTCTGTTTGATATTGTACAGCTCGAAATCTATGACATGATTGGACAAGCAATCAGCAGTTCTCGCCGGGCTGGTGGTGAGGTAAGAAGCGTATCTGTCTCTGCTGCATACTTCCTATCTTGTCCTCTCTG control NA NA NA NA NA 4000 150 0.007246288 0.03772852 0.0224874 0.9741923 0.9748218 0.9956336 0.9073647 NA NA -0.9883873 -0.8696362 0.974507 0.9514992 NA -0.9290118 NA TRUE NA NA NA NA NA NA UBR4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBR4 NA NA NA ENSG00000127481 ENSE00001603717 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001604398_000 ENSE00001604398 000 7 7495630 7495799 - 45 69 56 NA NA NA NA NA ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 NA NA NA NA NA NA ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG natural NA NA NA NA NA 613 1018 0.9713808 0.9598524 0.9656166 NA NA 0.9713808 0.9598524 NA NA 0 0 NA 0.9656166 NA 0 NA FALSE NA NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003578523 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001604398_001 ENSE00001604398 001 7 7495630 7495799 - 45 69 56 C T 7495640 520 160 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAAAACATTCCAG 7455998 7456168 7456008 7456009 7456009 downstr_intron 35 1.795455 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAAAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 273 261 0.9879499 0.9993936 0.9936717 NA NA 0.9713808 0.9598524 NA NA 0.01656911 0.03954113 NA 0.9656166 NA 0.02805512 NA FALSE NA 0.003 0.086 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 16/34 1 NA TCT C,T 2.483e-05 7:7456009 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant 0.10877 0.18262 0.03256 0.053691 0.6814981 0.0672918 1.893035e-20 FALSE 8.1644e-06 ENSE00001604398_002 ENSE00001604398 002 7 7495630 7495799 - 45 69 56 C T 7495645 521 155 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAATGCAGAACATTCCAG 7455998 7456168 7456013 7456014 7456014 downstr_intron 30 1.681818 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAATGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 47 35 1 1 1 NA NA 0.9713808 0.9598524 NA NA 0.02861924 0.04014756 NA 0.9656166 NA 0.0343834 NA FALSE NA 0 -0.048 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 16/34 1 NA ACT C,T 6.621e-05 7:7456014 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant 0.02727 0.13253 0.01897 0.053691 0.4284976 0.0682314 1.893035e-20 FALSE 6.11257e-05 ENSE00001604398_004 ENSE00001604398 004 7 7495630 7495799 - 45 69 56 G A 7495647 523 153 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTTAGTGCAGAACATTCCAG 7455998 7456168 7456015 7456016 7456016 downstr_intron 28 1.636364 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTTAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 305 198 0.9666803 0.9492131 0.9579467 NA NA 0.9713808 0.9598524 NA NA -0.004700473 -0.01063934 NA 0.9656166 NA -0.007669909 NA FALSE NA 0 -0.71 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7456016 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant -0.180108 0.11246 0.00589 0.053691 0.4991582 0.0682314 1.893035e-20 FALSE 4.07239e-05 ENSE00001604398_005 ENSE00001604398 005 7 7495630 7495799 - 45 69 56 A C 7495648 524 152 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTGCAGTGCAGAACATTCCAG 7455998 7456168 7456016 7456017 7456017 downstr_intron 27 1.613636 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTGCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 22 34 0.8 0.95 0.875 NA NA 0.9713808 0.9598524 NA NA -0.1713808 -0.009852436 NA 0.9656166 NA -0.0906166 NA FALSE NA 0.004 2.043 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 16/34 1 NA GAA A,C 8.276e-06 7:7456017 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant 0.092082 0.23113 0.23208 0.053691 0.6475017 0.0682314 1.893035e-20 FALSE 4.07173e-06 ENSE00001604398_006 ENSE00001604398 006 7 7495630 7495799 - 45 69 56 G A 7495651 525 149 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCTCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456019 7456020 7456020 downstr_intron 24 1.545455 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCTCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 163 13 1 0.95 0.975 NA NA 0.9713808 0.9598524 NA NA 0.02861924 -0.009852436 NA 0.9656166 NA 0.009383404 NA FALSE NA 0 -0.588 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 16/34 1 NA GGG G,A 8.276e-06 7:7456020 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant 0.282968 0.12488 0.01107 0.053691 0.647101 0.0682314 1.893035e-20 FALSE 1.62817e-05 ENSE00001604398_007 ENSE00001604398 007 7 7495630 7495799 - 45 69 56 A C 7495659 526 141 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCGTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456027 7456028 7456028 downstr_intron 16 1.363636 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCGTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 53 19 0.9014373 0.8 0.8507186 NA NA 0.9713808 0.9598524 NA NA -0.06994347 -0.1598524 NA 0.9656166 NA -0.114898 NA FALSE NA 0 0.01 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 16/34 1 NA AAG A,C 8.276e-06 7:7456028 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant -0.323284 0.1648 0.04937 0.053691 0.547475 0.111284 1.893035e-20 FALSE 4.06732e-06 ENSE00001604398_008 ENSE00001604398 008 7 7495630 7495799 - 45 69 56 A T 7495662 527 138 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCAATCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456030 7456031 7456031 downstr_intron 13 1.295455 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCAATCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 438 349 0.9320295 0.950589 0.9413092 NA NA 0.9713808 0.9598524 NA NA -0.03935122 -0.009263485 NA 0.9656166 NA -0.02430735 NA FALSE NA 0 0.372 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 16/34 1 NA AAT A,T 8.276e-06 7:7456031 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant -0.009755 0.15197 0.06806 0.053691 0.5116311 0.0682314 1.893035e-20 FALSE 1.62656e-05 ENSE00001604398_009 ENSE00001604398 009 7 7495630 7495799 - 45 69 56 T C 7495663 528 137 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCGTTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456031 7456032 7456032 downstr_intron 12 1.272727 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCGTTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 358 16 0.9324762 0.8 0.8662381 NA NA 0.9713808 0.9598524 NA NA -0.03890456 -0.1598524 NA 0.9656166 NA -0.0993785 NA FALSE NA 0 -0.26 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 16/34 1 NA ATG T,C 1.655e-05 7:7456032 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant -0.173047 0.15673 0.01717 0.053691 0.5197612 0.0682314 1.893035e-20 FALSE NA ENSE00001604398_014 ENSE00001604398 014 7 7495630 7495799 - 45 69 56 T A 7495684 533 116 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCATGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456052 7456053 7456053 exon -10 0.8695652 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCATGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 145 71 0.9334819 0.9487366 0.9411093 NA NA 0.9713808 0.9598524 NA NA -0.03789883 -0.01111583 NA 0.9656166 NA -0.02450733 NA FALSE NA 1 3.386 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 rs577280435 1 deleterious(0.01) possibly_damaging(0.664) A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 CTT T,A 6.621e-05 7:7456053 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 5.509649 0.9732 0.87103 0.553676 0.9975469 0 1.893035e-20 FALSE 6.09672e-05 ENSE00001604398_017 ENSE00001604398 017 7 7495630 7495799 - 45 69 56 C T 7495692 536 108 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCAGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456060 7456061 7456061 exon -18 0.7536232 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCAGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 44 51 0.975155 0.95 0.9625775 NA NA 0.9713808 0.9598524 NA NA 0.003774223 -0.009852436 NA 0.9656166 NA -0.003039107 NA FALSE NA 0.304 3.235 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7456061 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 7.588821 0.97329 0.61157 0.553676 0.9991473 0 1.893035e-20 FALSE 5.69022e-05 ENSE00001604398_019 ENSE00001604398 019 7 7495630 7495799 - 45 69 56 T C 7495696 538 104 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGGATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456064 7456065 7456065 exon -22 0.6956522 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGGATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 84 723 0.8 0.8 0.8 NA NA 0.9713808 0.9598524 NA NA -0.1713808 -0.1598524 NA 0.9656166 NA -0.1656166 NA FALSE NA 0.335 0.919 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 16/35 rs555223790 1 NA TTC T,C 3.311e-05 7:7456065 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 synonymous_variant 0.557097 0.81541 0.34252 0.553676 0.7266308 0 1.893035e-20 FALSE 2.03193e-05 ENSE00001604398_020 ENSE00001604398 020 7 7495630 7495799 - 45 69 56 C T 7495697 539 103 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGAAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456065 7456066 7456066 exon -23 0.6811594 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGAAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 547 1772 0.7961091 0.8001427 0.7981259 NA NA 0.9713808 0.9598524 NA NA -0.1752716 -0.1597097 NA 0.9656166 NA -0.1674907 NA FALSE NA 0.477 3.333 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 rs367823573 1 deleterious(0) possibly_damaging(0.802) NA T:0.0003 T:0 TCC C,T 8.278e-06 7:7456066 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 6.402512 0.97153 0.81549 0.553676 0.9960932 0 1.893035e-20 FALSE 4.06375e-06 ENSE00001604398_022 ENSE00001604398 022 7 7495630 7495799 - 45 69 56 G C 7495700 541 100 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCGTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456068 7456069 7456069 exon -26 0.6376812 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCGTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 888 113 0.9722661 0.9798845 0.9760753 NA NA 0.9713808 0.9598524 NA NA 0.0008853838 0.02003209 NA 0.9656166 NA 0.01045874 NA FALSE NA 0.767 2.699 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 rs542163430 1 deleterious(0) possibly_damaging(0.776) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AGG G,C 8.277e-06 7:7456069 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 5.356278 0.96457 0.85674 0.553676 0.9962547 0 1.893035e-20 FALSE 8.12797e-06 ENSE00001604398_023 ENSE00001604398 023 7 7495630 7495799 - 45 69 56 G T 7495701 542 99 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCACTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456069 7456070 7456070 exon -27 0.6231884 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCACTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 1105 1196 0.9927807 0.9989406 0.9958607 NA NA 0.9713808 0.9598524 NA NA 0.02139995 0.03908821 NA 0.9656166 NA 0.03024408 NA FALSE NA 0.776 4.214 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 1 deleterious(0.02) possibly_damaging(0.625) NA GGG G,T 2.483e-05 7:7456070 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 3.903391 0.96087 0.89593 0.553676 0.9485753 0 1.893035e-20 FALSE 1.62567e-05 ENSE00001604398_024 ENSE00001604398 024 7 7495630 7495799 - 45 69 56 A G 7495709 543 91 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAACGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456077 7456078 7456078 exon -35 0.5072464 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAACGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 341 932 0.9940225 0.99864 0.9963313 NA NA 0.9713808 0.9598524 NA NA 0.02264172 0.0387876 NA 0.9656166 NA 0.03071466 NA FALSE NA 0.413 0.314 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 1 tolerated(0.47) benign(0.001) NA CAT A,G 1.656e-05 7:7456078 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 1.012714 0.86123 0.05617 0.553676 0.8503869 0 1.893035e-20 FALSE 4.06365e-06 ENSE00001604398_025 ENSE00001604398 025 7 7495630 7495799 - 45 69 56 T C 7495710 544 90 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAGTGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456078 7456079 7456079 exon 34 0.4927536 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAGTGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 196 636 0.9166884 0.8489682 0.8828283 NA NA 0.9713808 0.9598524 NA NA -0.05469234 -0.1108842 NA 0.9656166 NA -0.08278828 NA FALSE NA 0.406 0.088 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 1 tolerated(1) benign(0) NA ATT T,C 8.278e-06 7:7456079 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant -0.604186 0.85728 0.05524 0.553676 0.4711873 0 1.893035e-20 FALSE 4.06379e-06 ENSE00001604398_026 ENSE00001604398 026 7 7495630 7495799 - 45 69 56 C T 7495724 545 76 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGAACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456092 7456093 7456093 exon 20 0.2898551 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGAACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 1826 262 0.9969225 0.9998546 0.9983886 NA NA 0.9713808 0.9598524 NA NA 0.02554177 0.04000218 NA 0.9656166 NA 0.03277198 NA FALSE NA 0.996 3.333 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 COSM3640555 1 deleterious(0) probably_damaging(0.999) NA TCC C,T 8.279e-06 7:7456093 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 6.993347 0.9844 0.88802 0.553676 0.9968828 0 1.893035e-20 FALSE 4.06534e-06 ENSE00001604398_027 ENSE00001604398 027 7 7495630 7495799 - 45 69 56 C T 7495725 546 75 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGAGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456093 7456094 7456094 exon 19 0.2753623 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGAGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 993 366 0.9979092 1 0.9989546 NA NA 0.9713808 0.9598524 NA NA 0.02652845 0.04014756 NA 0.9656166 NA 0.03333801 NA FALSE NA 1 3.333 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 COSM1201870 1 deleterious(0) probably_damaging(0.999) NA CCC C,T 8.279e-06 7:7456094 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 7.378547 0.9844 0.88827 0.553676 0.9992429 0 1.893035e-20 FALSE 1.21969e-05 ENSE00001604398_029 ENSE00001604398 029 7 7495630 7495799 - 45 69 56 T C 7495735 548 65 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATGGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456103 7456104 7456104 exon 9 0.1304348 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATGGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 505 1622 0.95511 0.9619885 0.9585492 NA NA 0.9713808 0.9598524 NA NA -0.01627079 0.002136032 NA 0.9656166 NA -0.007067378 NA FALSE NA 0.994 0.148 rs55745506 missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 rs55745506&COSM3982266 1 tolerated(0.37) benign(0.001) C:0.3163 C:0.5726 C:0.2522 NA C:0.2103 C:0.2107 C:0.2331 C:0.484 C:0.204 CTA C,C 0.239 7:7456104 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 1.067283 0.88073 0.01582 0.553676 0.8251238 0 1.893035e-20 FALSE 0.230928 ENSE00001604398_030 ENSE00001604398 030 7 7495630 7495799 - 45 69 56 T G 7495737 549 63 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATCTAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456105 7456106 7456106 exon 7 0.1014493 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATCTAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 52 170 1 1 1 NA NA 0.9713808 0.9598524 NA NA 0.02861924 0.04014756 NA 0.9656166 NA 0.0343834 NA FALSE NA 1 0.057 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 1 tolerated(1) benign(0) NA ATA T,G 8.279e-06 7:7456106 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 0.773294 0.9707 0.44516 0.553676 0.5149109 0 1.893035e-20 FALSE 8.13339e-06 ENSE00001604398_031 ENSE00001604398 031 7 7495630 7495799 - 45 69 56 C A 7495740 550 60 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGTATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456108 7456109 7456109 exon 4 0.05797101 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGTATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 546 63 0.9293481 0.839057 0.8842025 NA NA 0.9713808 0.9598524 NA NA -0.04203264 -0.1207955 NA 0.9656166 NA -0.08141405 NA FALSE NA 0.992 3.333 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 16/35 COSM1452061 1 deleterious(0) possibly_damaging(0.823) NA TCC C,A 8.279e-06 7:7456109 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 missense_variant 6.494083 0.9857 0.9069 0.553676 0.9913651 0 1.893035e-20 FALSE NA ENSE00001604398_032 ENSE00001604398 032 7 7495630 7495799 - 45 69 56 C G 7495741 551 59 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGCGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456109 7456110 7456110 exon 3 0.04347826 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGCGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 767 24 0.9993544 1 0.9996772 NA NA 0.9713808 0.9598524 NA NA 0.0279736 0.04014756 NA 0.9656166 NA 0.03406058 NA FALSE NA 0.713 -2.061 . splice_region_variant&synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 16/35 1 NA CCC C,G 8.279e-06 7:7456110 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 splice_region_variant 1.470019 0.96012 0.12159 0.553676 0.7585485 0 1.893035e-20 FALSE 8.15927e-06 ENSE00001604398_033 ENSE00001604398 033 7 7495630 7495799 - 45 69 56 G T 7495763 552 37 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCATGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456131 7456132 7456132 upstr_intron -20 -0.3392857 ATGAAATAATAAGATTTTATTTTATTGTTATATTTCATGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 144 68 0.9688144 0.9791097 0.9739621 NA NA 0.9713808 0.9598524 NA NA -0.002566317 0.01925728 NA 0.9656166 NA 0.008345481 NA FALSE NA 0.621 0.31 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 15/34 rs372127651 1 NA T:0 T:0.0001 AGG G,T 8.28e-06 7:7456132 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant -0.08546 0.20674 0.09127 0.053691 0.4611419 0.119698 1.893035e-20 FALSE 8.25791e-06 ENSE00001604398_034 ENSE00001604398 034 7 7495630 7495799 - 45 69 56 A G 7495769 553 31 ATGAAATAATAAGATTTTATTTTATTGTTACATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456137 7456138 7456138 upstr_intron -26 -0.4464286 ATGAAATAATAAGATTTTATTTTATTGTTACATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 304 814 0.9546537 0.8235561 0.8891049 NA NA 0.9713808 0.9598524 NA NA -0.01672702 -0.1362963 NA 0.9656166 NA -0.07651165 NA FALSE NA 0.022 0.155 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 15/34 1 NA TAT A,G 8.28e-06 7:7456138 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant 0.114194 0.13624 0.03846 0.053691 0.7792842 0.109996 1.893035e-20 FALSE 4.15296e-06 ENSE00001604398_035 ENSE00001604398 035 7 7495630 7495799 - 45 69 56 A G 7495780 554 20 ATGAAATAATAAGATTTTACTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456148 7456149 7456149 upstr_intron -37 -0.6428571 ATGAAATAATAAGATTTTACTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 247 394 0.9604225 0.9217447 0.9410836 NA NA 0.9713808 0.9598524 NA NA -0.01095828 -0.03810771 NA 0.9656166 NA -0.02453299 NA FALSE NA 0.005 0.329 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 15/34 rs376552810 1 NA G:0 G:0.0002 AAT A,G 5.798e-05 7:7456149 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant -0.045078 0.14035 0.0305 0.053691 0.7245187 0.0689414 1.893035e-20 FALSE 4.22726e-05 ENSE00001604398_036 ENSE00001604398 036 7 7495630 7495799 - 45 69 56 T C 7495781 555 19 ATGAAATAATAAGATTTTGTTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG 7455998 7456168 7456149 7456150 7456150 upstr_intron -38 -0.6607143 ATGAAATAATAAGATTTTGTTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG ATGAAATAATAAGATTTTATTTTATTGTTATATTTCCTGGCTTATTTTCTGTGCAGGGGGATATAGGACCTGTGGGACCCCAAGGACCAATGGGTATCCCTGGAATCGGGAGTCAAGGGGAACAGGTAATTAATGCATTCTTCCTTTCCCTTCAGTGCAGAACATTCCAG mutant NA NA NA NA NA 188 1324 0.9774263 0.9783554 0.9778909 NA NA 0.9713808 0.9598524 NA NA 0.006045583 0.01850293 NA 0.9656166 NA 0.01227426 NA FALSE NA 0 -1.584 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 15/34 rs369456323 1 NA C:0 C:0.0002 ATA T,C 4.969e-05 7:7456150 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003578523 intron_variant -0.619414 0.07285 0.00206 0.053691 0.561793 0.0689414 1.893035e-20 FALSE 6.34964e-05 ENSE00001604658_000 ENSE00001604658 000 9 137690191 137690360 + 63 54 53 NA NA NA NA NA ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 NA NA NA NA NA NA ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG natural NA NA NA NA NA 512 690 0.9972136 0.9785633 0.9878885 NA NA 0.9972136 0.9785633 NA NA 0 0 NA 0.9878885 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001604658 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001604658_003 ENSE00001604658 003 9 137690191 137690360 + 63 54 53 G T 137690220 3840 30 ATTCTCAAAGGTGGTTGCTTCTCAGACACTAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 134798373 134798374 134798374 upstr_intron -34 -0.5238095 ATTCTCAAAGGTGGTTGCTTCTCAGACACTAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 57 154 1 0.9037506 0.9518753 NA NA 0.9972136 0.9785633 NA NA 0.00278642 -0.07481276 NA 0.9878885 NA -0.03601317 NA FALSE NA 0 -0.493 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134798374 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 intron_variant -0.148996 0.13798 0.02351 0.080785 0.5559211 0.0800041 1 TRUE 8.13531e-06 ENSE00001604658_004 ENSE00001604658 004 9 137690191 137690360 + 63 54 53 C T 137690230 3841 40 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTTCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 134798383 134798384 134798384 upstr_intron -24 -0.3650794 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTTCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 26 94 1 1 1 NA NA 0.9972136 0.9785633 NA NA 0.00278642 0.02143666 NA 0.9878885 NA 0.01211154 NA FALSE NA 0 -0.12 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 36/65 1 NA TCC C 2.471e-05 9:134798384 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 intron_variant 0.185901 0.08233 0.00068 0.218109 0.6938093 0.139208 1 TRUE 2.84523e-05 ENSE00001604658_006 ENSE00001604658 006 9 137690191 137690360 + 63 54 53 T C 137690246 3843 56 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTCTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 134798399 134798400 134798400 upstr_intron -8 -0.1111111 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTCTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 471 27 1 0.9940968 0.9970484 NA NA 0.9972136 0.9785633 NA NA 0.00278642 0.01553345 NA 0.9878885 NA 0.009159935 NA FALSE NA 0.026 1.641 . splice_region_variant&intron_variant LOW COL5A1 HGNC 2209 ENST00000371817 36/65 1 NA TTT T 8.237e-06 9:134798400 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 splice_region_variant 0.362965 0.28626 0.18184 0.218109 0.6686591 0.378182 1 TRUE 4.06289e-06 ENSE00001604658_009 ENSE00001604658 009 9 137690191 137690360 + 63 54 53 G A 137690282 3846 92 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGAACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 134798435 134798436 134798436 exon -26 0.537037 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGAACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 169 253 0.9879762 0.9963062 0.9921412 NA NA 0.9972136 0.9785633 NA NA -0.009237373 0.01774285 NA 0.9878885 NA 0.004252737 NA FALSE NA 1 9.448 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 37/66 1 unknown(0) NA GGA G 8.236e-06 9:134798436 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 missense_variant 5.029927 0.99436 0.99295 0.706548 0.9951052 0 1 TRUE 4.06303e-06 ENSE00001604658_011 ENSE00001604658 011 9 137690191 137690360 + 63 54 53 G A 137690317 3848 127 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCAAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 134798470 134798471 134798471 downstr_intron 10 1.192308 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCAAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 120 126 1 0.9880074 0.9940037 NA NA 0.9972136 0.9785633 NA NA 0.00278642 0.009444099 NA 0.9878885 NA 0.00611526 NA FALSE NA 0 -0.01 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 37/65 rs376326277 1 NA A:0.0002 A:0 CGA G 1.647e-05 9:134798471 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 intron_variant -0.477187 0.13417 0.01389 0.156188 0.5283783 0.0952982 1 TRUE 8.13398e-06 ENSE00001604658_013 ENSE00001604658 013 9 137690191 137690360 + 63 54 53 G T 137690321 3850 131 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGTTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 134798474 134798475 134798475 downstr_intron 14 1.269231 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGTTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 151 950 1 0.9746157 0.9873078 NA NA 0.9972136 0.9785633 NA NA 0.00278642 -0.003947677 NA 0.9878885 NA -0.0005806282 NA FALSE NA 0 -0.224 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 37/65 1 NA GGT G 4.118e-05 9:134798475 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 intron_variant -0.245563 0.18516 0.05562 0.156188 0.3918032 0.0729123 1 TRUE 2.03426e-05 ENSE00001604658_014 ENSE00001604658 014 9 137690191 137690360 + 63 54 53 C T 137690332 3851 142 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGATGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 134798485 134798486 134798486 downstr_intron 25 1.480769 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGATGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 63 338 1 1 1 NA NA 0.9972136 0.9785633 NA NA 0.00278642 0.02143666 NA 0.9878885 NA 0.01211154 NA FALSE NA 0.001 -1.244 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 37/65 rs530777170 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACG C 9.884e-05 9:134798486 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 intron_variant 0.077669 0.14943 0.00855 0.156188 0.5648107 0.0650763 1 TRUE 9.77844e-05 ENSE00001604658_016 ENSE00001604658 016 9 137690191 137690360 + 63 54 53 G C 137690339 3853 149 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTCGCTGGCTCTCTGACCACCCTG 134798344 134798514 134798492 134798493 134798493 downstr_intron 32 1.615385 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTCGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 52 73 1 1 1 NA NA 0.9972136 0.9785633 NA NA 0.00278642 0.02143666 NA 0.9878885 NA 0.01211154 NA FALSE NA 0.013 0.985 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 37/65 rs372550171 1 NA C:0.0002 C:0 TGG G 8.237e-06 9:134798493 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 intron_variant -0.213257 0.1602 0.12743 0.156188 0.6566421 0.0650763 1 TRUE 4.07914e-06 ENSE00001604658_019 ENSE00001604658 019 9 137690191 137690360 + 63 54 53 C T 137690347 3856 157 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTTTCTGACCACCCTG 134798344 134798514 134798500 134798501 134798501 downstr_intron 40 1.769231 ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTTTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG mutant NA NA NA NA NA 269 89 1 0.9651199 0.98256 NA NA 0.9972136 0.9785633 NA NA 0.00278642 -0.01344343 NA 0.9878885 NA -0.005328503 NA FALSE NA 0 -0.17 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 37/65 1 NA TCT C 8.237e-06 9:134798501 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001604658 intron_variant 0.376199 0.14698 0.04103 0.156188 0.7659335 0.0650763 1 TRUE 4.08624e-06 ENSE00001604658_BRK ENSE00001604658 BRK 9 137690191 137690360 + 63 54 53 A,G; T,T NA NA NA ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCTTGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTCCGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG 134798344 134798514 NA NA NA NA NA NA ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCTTGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTCCGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG ATTCTCAAAGGTGGTTGCTTCTCAGACACGAATGAACCTCCTTTCCTTTGGTTTTTTCTTCAGGGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACTGTGAGTATCGAGGGTGCTGGGGGACGTGGCTGGCTGGCTCTCTGACCACCCTG control NA NA NA NA NA 32 1014 0 0.007027805 0.003513903 NA NA 0.9972136 0.9785633 NA NA -0.9972136 -0.9715355 NA 0.9878885 NA -0.9843746 NA TRUE NA NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001604658 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001604689_000 ENSE00001604689 000 7 5941222 5941391 + 66 48 56 NA NA NA NA NA CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 NA NA NA NA NA NA CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG natural NA NA NA NA NA 3154 1594 0.5772738 0.6758169 0.6265454 NA NA 0.5772738 0.6758169 NA NA 0 0 NA 0.6265454 NA 0 NA FALSE NA NA NA NA NA NA CCZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCZ1 NA NA NA ENSG00000122674 ENSE00003538155 NA NA NA NA NA NA NA 0.9946947 TRUE NA ENSE00001604689_001 ENSE00001604689 001 7 5941222 5941391 + 66 48 56 A G 5941237 253 16 CCATCTATCCAGTAGGCATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 5901605 5901606 5901606 upstr_intron -51 -0.7575758 CCATCTATCCAGTAGGCATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 210 680 0.7899144 0.6819427 0.7359286 NA NA 0.5772738 0.6758169 NA NA 0.2126405 0.00612586 NA 0.6265454 NA 0.1093832 NA FALSE NA 0.001 1.087 . downstream_gene_variant MODIFIER CCZ1 HGNC 21691 ENST00000461592 rs553358071 1 G:0.0004 G:0 G:0.0029 NA G:0 G:0 G:0 GAC A,G 8.346e-06 7:5901606 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 non_coding_transcript_exon_variant -0.12413 0.13398 0.02094 0.110006 0.5511609 0.098394 0.9946947 TRUE NA ENSE00001604689_003 ENSE00001604689 003 7 5941222 5941391 + 66 48 56 C T 5941277 255 56 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTTGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 5901645 5901646 5901646 upstr_intron -11 -0.1515152 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTTGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 58 1808 1 0.9939925 0.9969962 NA NA 0.5772738 0.6758169 NA NA 0.4227262 0.3181756 NA 0.6265454 NA 0.3704509 NA FALSE NA 0.551 1.378 . downstream_gene_variant MODIFIER CCZ1 HGNC 21691 ENST00000461592 rs545486224 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 TCG C,T 0.0003336 7:5901646 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 non_coding_transcript_exon_variant -0.221196 0.14911 0.0146 0.256391 0.744878 0.106652 0.9946947 TRUE 0.000293233 ENSE00001604689_004 ENSE00001604689 004 7 5941222 5941391 + 66 48 56 C T 5941312 256 91 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGTGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 5901680 5901681 5901681 exon -24 0.5208333 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGTGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 1059 289 0.002561423 0.001108526 0.001834974 NA NA 0.5772738 0.6758169 NA NA -0.5747124 -0.6747084 NA 0.6265454 NA -0.6247104 NA TRUE NA 0.999 4.468 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:5901681 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 missense_variant 6.46446 0.94631 0.93147 0.706548 0.999007 0 0.9946947 TRUE 0.000140995 ENSE00001604689_006 ENSE00001604689 006 7 5941222 5941391 + 66 48 56 G A 5941325 258 104 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAACATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 5901693 5901694 5901694 exon -11 0.7916667 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAACATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 71 18 0.95 1 0.975 NA NA 0.5772738 0.6758169 NA NA 0.3727262 0.3241831 NA 0.6265454 NA 0.3484546 NA FALSE NA 1 5.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:5901694 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 missense_variant 1.952119 0.98479 0.96314 0.706548 0.9837779 0 0.9946947 TRUE 0.000669571 ENSE00001604689_007 ENSE00001604689 007 7 5941222 5941391 + 66 48 56 G T 5941325 259 104 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACATCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 5901693 5901694 5901694 exon -11 0.7916667 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACATCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 252 98 0.9365764 0.8781638 0.9073701 NA NA 0.5772738 0.6758169 NA NA 0.3593026 0.2023469 NA 0.6265454 NA 0.2808247 NA FALSE NA 1 5.24 NA NA NA CCZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCZ1 NA NA NA ENSG00000122674 ENSE00003538155 missense_variant 3.088864 0.98567 0.97484 0.706548 0.9737344 0 0.9946947 TRUE 1.65326e-05 ENSE00001604689_008 ENSE00001604689 008 7 5941222 5941391 + 66 48 56 T C 5941343 260 122 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGCGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 5901711 5901712 5901712 downstr_intron 8 1.145455 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGCGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 886 231 0.8 0.862254 0.831127 NA NA 0.5772738 0.6758169 NA NA 0.2227262 0.1864371 NA 0.6265454 NA 0.2045816 NA FALSE NA 0 -0.79 rs147443489 downstream_gene_variant MODIFIER CCZ1 HGNC 21691 ENST00000461592 rs147443489&COSM3812435 1 C:0.0974 C:0.18 C:0.0793 NA C:0.002 C:0.0974 C:0.0971 C:0.1448 C:0.0854 GTG T,C 0.082 7:5901712 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 splice_region_variant -0.654996 0.12405 0.03068 0.099367 0.5507857 0.0522201 0.9946947 TRUE 0.0797966 ENSE00001604689_009 ENSE00001604689 009 7 5941222 5941391 + 66 48 56 C T 5941346 261 125 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGTGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 5901714 5901715 5901715 downstr_intron 11 1.2 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGTGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 1938 1077 0.8161504 0.8 0.8080752 NA NA 0.5772738 0.6758169 NA NA 0.2388765 0.1241831 NA 0.6265454 NA 0.1815298 NA FALSE NA 0 0.265 . downstream_gene_variant MODIFIER CCZ1 HGNC 21691 ENST00000461592 rs372413716 1 T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 T:0 T:0.0001 GCG C,T 0.0002416 7:5901715 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 non_coding_transcript_exon_variant 0.154511 0.20628 0.02082 0.099367 0.5615605 0.0522201 0.9946947 TRUE 0.000178058 ENSE00001604689_010 ENSE00001604689 010 7 5941222 5941391 + 66 48 56 T C 5941353 262 132 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTCCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG 5901590 5901760 5901721 5901722 5901722 downstr_intron 18 1.327273 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTCCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 56 10 0.8 0.8 0.8 NA NA 0.5772738 0.6758169 NA NA 0.2227262 0.1241831 NA 0.6265454 NA 0.1734546 NA FALSE NA 0.11 0.748 . downstream_gene_variant MODIFIER CCZ1 HGNC 21691 ENST00000461592 rs375548886 1 NA C:0.0005 C:0 TTC T,C 2.499e-05 7:5901722 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 non_coding_transcript_exon_variant 0.073198 0.31876 0.0456 0.099367 0.4319483 0.0530182 0.9946947 TRUE 3.72344e-05 ENSE00001604689_013 ENSE00001604689 013 7 5941222 5941391 + 66 48 56 C G 5941374 265 153 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCAGTTACCCCTATCTCTAGG 5901590 5901760 5901742 5901743 5901743 downstr_intron 39 1.709091 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCAGTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 91 1295 0.8 0.6738939 0.736947 NA NA 0.5772738 0.6758169 NA NA 0.2227262 -0.001922976 NA 0.6265454 NA 0.1104016 NA FALSE NA 0 -0.984 . downstream_gene_variant MODIFIER CCZ1 HGNC 21691 ENST00000461592 rs369835545 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0011 G:0 ACT C,G 0.000125 7:5901743 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 non_coding_transcript_exon_variant -0.394255 0.04054 0.00075 0.099367 0.5939006 0.0530182 0.9946947 TRUE 7.46077e-05 ENSE00001604689_015 ENSE00001604689 015 7 5941222 5941391 + 66 48 56 C A 5941378 267 157 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTAACCCTATCTCTAGG 5901590 5901760 5901746 5901747 5901747 downstr_intron 43 1.781818 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTAACCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 1236 965 0.8 0.8307189 0.8153594 NA NA 0.5772738 0.6758169 NA NA 0.2227262 0.154902 NA 0.6265454 NA 0.1888141 NA FALSE NA 0.001 0.056 NA NA NA CCZ1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:5901747 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 non_coding_transcript_exon_variant 0.156657 0.11593 0.02901 0.099367 0.7152804 0.0522201 0.9946947 TRUE 0 ENSE00001604689_016 ENSE00001604689 016 7 5941222 5941391 + 66 48 56 C T 5941380 268 159 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCTCTATCTCTAGG 5901590 5901760 5901748 5901749 5901749 downstr_intron 45 1.818182 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCTCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 1152 199 0.06000465 0.1841613 0.122083 NA NA 0.5772738 0.6758169 NA NA -0.5172692 -0.4916555 NA 0.6265454 NA -0.5044624 NA TRUE NA 0 -0.393 . downstream_gene_variant MODIFIER CCZ1 HGNC 21691 ENST00000461592 1 NA CCC C,T 8.331e-06 7:5901749 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 non_coding_transcript_exon_variant 0.17299 0.15457 0.02441 0.099367 0.7518214 0.0522201 0.9946947 TRUE 4.15915e-06 ENSE00001604689_017 ENSE00001604689 017 7 5941222 5941391 + 66 48 56 C T 5941381 269 160 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCTTATCTCTAGG 5901590 5901760 5901749 5901750 5901750 downstr_intron 46 1.836364 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCTTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAGCCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 343 237 0.522249 0.5251231 0.5236861 NA NA 0.5772738 0.6758169 NA NA -0.05502484 -0.1506937 NA 0.6265454 NA -0.1028593 NA FALSE NA 0 0.011 . downstream_gene_variant MODIFIER CCZ1 HGNC 21691 ENST00000461592 1 NA CCT C,T 8.331e-06 7:5901750 CCZ1 HGNC Symbol protein_coding 27825 ENSG00000122674 ENSE00003538155 non_coding_transcript_exon_variant 0.008325 0.10293 0.0261 0.099367 0.7457508 0.0522201 0.9946947 TRUE 4.16074e-06 ENSE00001605790_000 ENSE00001605790 000 15 91435225 91435394 + 63 54 53 NA NA NA NA NA CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 NA NA NA NA NA NA CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG natural NA NA NA NA NA 724 797 0.993226 0.9942013 0.9937136 NA NA 0.993226 0.9942013 NA NA 0 0 NA 0.9937136 NA 0 NA FALSE NA NA NA NA NA NA FES NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FES NA NA NA ENSG00000182511 ENSE00003602818 NA NA NA NA NA NA NA 2.773904e-05 FALSE NA ENSE00001605790_001 ENSE00001605790 001 15 91435225 91435394 + 63 54 53 C T 91435243 2485 19 CTTCTAAGGGCCCAGCACTCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892012 90892013 90892013 upstr_intron -45 -0.6984127 CTTCTAAGGGCCCAGCACTCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 141 46 0.9798359 1 0.9899179 NA NA 0.993226 0.9942013 NA NA -0.0133901 0.005798723 NA 0.9937136 NA -0.003795689 NA FALSE NA 0 -0.493 . intron_variant&NMD_transcript_variant MODIFIER FES HGNC 3657 ENST00000464684 12/17 rs374030853 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0003 CCC C,T 0.0003377 15:90892013 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 intron_variant 0.367623 0.15023 0.03683 0.162113 0.6160715 0.051514 2.773904e-05 FALSE 0.000386704 ENSE00001605790_003 ENSE00001605790 003 15 91435225 91435394 + 63 54 53 T C 91435269 2487 45 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCCGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892038 90892039 90892039 upstr_intron -19 -0.2857143 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCCGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 423 73 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0 -1.127 . intron_variant&NMD_transcript_variant MODIFIER FES HGNC 3657 ENST00000464684 12/17 1 NA CTG T,C 1.647e-05 15:90892039 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 intron_variant -0.205597 0.11327 0.00582 0.162113 0.3116512 0.0678303 2.773904e-05 FALSE 2.03168e-05 ENSE00001605790_004 ENSE00001605790 004 15 91435225 91435394 + 63 54 53 C G 91435275 2488 51 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCGTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892044 90892045 90892045 upstr_intron -13 -0.1904762 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCGTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 103 55 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0 -0.723 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:90892045 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 intron_variant 0.036074 0.17484 0.07316 0.162113 0.3583136 0.0678303 2.773904e-05 FALSE 8.12632e-06 ENSE00001605790_005 ENSE00001605790 005 15 91435225 91435394 + 63 54 53 C T 91435275 2489 51 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCTTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892044 90892045 90892045 upstr_intron -13 -0.1904762 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCTTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 182 450 0.9951526 0.9796314 0.987392 NA NA 0.993226 0.9942013 NA NA 0.001926583 -0.01456988 NA 0.9937136 NA -0.00632165 NA FALSE NA 0 -0.723 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FES NA NA NA ENSG00000182511 ENSE00003602818 intron_variant 0.229635 0.15885 0.0399 0.162113 0.3319179 0.0678303 2.773904e-05 FALSE 2.03158e-05 ENSE00001605790_007 ENSE00001605790 007 15 91435225 91435394 + 63 54 53 C G 91435277 2491 53 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTGTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892046 90892047 90892047 upstr_intron -11 -0.1587302 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTGTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 251 118 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0 -0.682 NA NA NA FES NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:90892047 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 intron_variant 0.275278 0.25167 0.09317 0.162113 0.6807852 0.0678303 2.773904e-05 FALSE 8.12658e-06 ENSE00001605790_016 ENSE00001605790 016 15 91435225 91435394 + 63 54 53 C T 91435339 2500 115 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGATGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892108 90892109 90892109 exon -3 0.962963 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGATGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 712 56 0.9831643 1 0.9915822 NA NA 0.993226 0.9942013 NA NA -0.01006169 0.005798723 NA 0.9937136 NA -0.002131483 NA FALSE NA 0 0.106 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW FES HGNC 3657 ENST00000464684 13/18 1 NA ACG C,T 8.236e-06 15:90892109 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 missense_variant 7.603998 0.92981 0.51639 0.67177 0.999065 0 2.773904e-05 FALSE 2.03169e-05 ENSE00001605790_017 ENSE00001605790 017 15 91435225 91435394 + 63 54 53 G T 91435340 2501 116 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACTGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892109 90892110 90892110 exon -2 0.9814815 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACTGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 147 165 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0.994 2.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:90892110 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 missense_variant 6.988442 0.98485 0.87439 0.67177 0.9974254 0 2.773904e-05 FALSE 1.21904e-05 ENSE00001605790_018 ENSE00001605790 018 15 91435225 91435394 + 63 54 53 G A 91435340 2502 116 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACAGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892109 90892110 90892110 exon -2 0.9814815 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACAGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 65 65 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0.994 2.338 NA NA NA FES NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FES NA NA NA ENSG00000182511 ENSE00003602818 missense_variant 4.350102 0.98189 0.93837 0.67177 0.9989632 0 2.773904e-05 FALSE 8.12691e-06 ENSE00001605790_020 ENSE00001605790 020 15 91435225 91435394 + 63 54 53 T G 91435347 2504 123 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGGGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892116 90892117 90892117 downstr_intron 6 1.115385 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGGGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant 32 26 0.85 0.8077608 0.8288804 NA NA NA NA NA NA NA 0.993226 0.9942013 NA NA NA NA NA 0.9937136 NA NA NA NA NA 0.998 3.37 . splice_region_variant&intron_variant&NMD_transcript_variant LOW FES HGNC 3657 ENST00000464684 13/17 rs199830753 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GTG T,G 8.236e-06 15:90892117 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 splice_region_variant 1.173829 0.961 0.92983 0.115753 0.8479801 0.966975 2.773904e-05 FALSE 2.03226e-05 ENSE00001605790_021 ENSE00001605790 021 15 91435225 91435394 + 63 54 53 C T 91435349 2505 125 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGTGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892118 90892119 90892119 downstr_intron 8 1.153846 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGTGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant 28 17 0.9110011 0.85 0.8805005 193 55 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0 -2.634 NA NA NA FES NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:90892119 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 splice_region_variant 0.876217 0.19757 0.01431 0.115753 0.5512189 0.271879 2.773904e-05 FALSE 0.000451278 ENSE00001605790_023 ENSE00001605790 023 15 91435225 91435394 + 63 54 53 G A 91435350 2507 126 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCACCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892119 90892120 90892120 downstr_intron 9 1.173077 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCACCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 91 367 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0 -2.609 . intron_variant&NMD_transcript_variant MODIFIER FES HGNC 3657 ENST00000464684 13/17 rs376699225 1 NA A:0 A:0.0001 CGC G,A 1.647e-05 15:90892120 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 non_coding_transcript_exon_variant 0.241587 0.11348 0.00171 0.115753 0.7945145 0.139618 2.773904e-05 FALSE 2.84655e-05 ENSE00001605790_026 ENSE00001605790 026 15 91435225 91435394 + 63 54 53 C A 91435364 2510 140 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTACTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892133 90892134 90892134 downstr_intron 23 1.442308 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTACTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 10 667 1 0.9195608 0.9597804 NA NA 0.993226 0.9942013 NA NA 0.006773998 -0.07464049 NA 0.9937136 NA -0.03393324 NA FALSE NA 0 2.362 . intron_variant&NMD_transcript_variant MODIFIER FES HGNC 3657 ENST00000464684 13/17 1 NA TCC C,A 8.236e-06 15:90892134 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 non_coding_transcript_exon_variant 0.397783 0.32936 0.22672 0.162113 0.8033645 0.0907066 2.773904e-05 FALSE 4.06921e-06 ENSE00001605790_027 ENSE00001605790 027 15 91435225 91435394 + 63 54 53 T G 91435369 2511 145 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGGCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892138 90892139 90892139 downstr_intron 28 1.538462 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGGCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 19 236 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0 -1.393 . intron_variant&NMD_transcript_variant MODIFIER FES HGNC 3657 ENST00000464684 13/17 1 NA GTC T,G 8.236e-06 15:90892139 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 non_coding_transcript_exon_variant 0.120383 0.181 0.01474 0.162113 0.448125 0.0493728 2.773904e-05 FALSE 2.03616e-05 ENSE00001605790_029 ENSE00001605790 029 15 91435225 91435394 + 63 54 53 G T 91435371 2513 147 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCTCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 90892140 90892141 90892141 downstr_intron 30 1.576923 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCTCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant 31 12 0.6643382 0.6735528 0.6689455 644 566 0.9968303 1 0.9984152 NA NA 0.993226 0.9942013 NA NA 0.003604324 0.005798723 NA 0.9937136 NA 0.004701524 NA FALSE NA 0 -0.533 NA NA NA FES NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:90892141 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 non_coding_transcript_exon_variant -0.271013 0.1327 0.02634 0.162113 0.5918992 0.0493728 2.773904e-05 FALSE 2.44493e-05 ENSE00001605790_032 ENSE00001605790 032 15 91435225 91435394 + 63 54 53 C T 91435376 2516 152 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGTGACTTCTCCTGAGTCGCG 90891994 90892164 90892145 90892146 90892146 downstr_intron 35 1.673077 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGTGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 98 126 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0 -0.232 . intron_variant&NMD_transcript_variant MODIFIER FES HGNC 3657 ENST00000464684 13/17 1 NA GCG C,T 8.236e-06 15:90892146 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 non_coding_transcript_exon_variant 0.099444 0.12913 0.0373 0.162113 0.5378825 0.0493728 2.773904e-05 FALSE 1.22424e-05 ENSE00001605790_033 ENSE00001605790 033 15 91435225 91435394 + 63 54 53 G A 91435377 2517 153 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCAACTTCTCCTGAGTCGCG 90891994 90892164 90892146 90892147 90892147 downstr_intron 36 1.692308 CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCAACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG mutant NA NA NA NA NA 14 538 1 1 1 NA NA 0.993226 0.9942013 NA NA 0.006773998 0.005798723 NA 0.9937136 NA 0.006286361 NA FALSE NA 0 -2.122 . intron_variant&NMD_transcript_variant MODIFIER FES HGNC 3657 ENST00000464684 13/17 rs377021804 1 NA A:0 A:0.0002 CGA G,A 4.942e-05 15:90892147 FES HGNC Symbol protein_coding 12081 ENSG00000182511 ENSE00003602818 non_coding_transcript_exon_variant -0.394693 0.05458 0.01332 0.162113 0.6194116 0.0493728 2.773904e-05 FALSE 3.26379e-05 ENSE00001605790_BRK ENSE00001605790 BRK 15 91435225 91435394 + 63 54 53 A,G; T,T NA NA NA CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCTTGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGCCGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG 90891994 90892164 NA NA NA NA NA NA CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCTTGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGCCGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG CTTCTAAGGGCCCAGCACCCCTTTTCTTCAGACTTCTGATCCCCTGTCTCCTCTCTTCCCCAGGACAAGTGGGTGCTGAACCATGAGGACCTGGTGTTGGGTGAGCAGATTGGACGGGTGAGTGCGCCTCTGCTGGCCTCCTTGTCGCTGGCGACTTCTCCTGAGTCGCG control NA NA NA NA NA 298 109 0 0.002949259 0.00147463 NA NA 0.993226 0.9942013 NA NA -0.993226 -0.991252 NA 0.9937136 NA -0.992239 NA TRUE NA NA NA NA NA NA FES NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FES NA NA NA ENSG00000182511 ENSE00003602818 NA NA NA NA NA NA NA 2.773904e-05 FALSE NA ENSE00001606096_000 ENSE00001606096 000 11 47819888 47820057 - 32 96 42 NA NA NA NA NA ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 NA NA NA NA NA NA ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT natural 12 11 1 1 1 4644 1976 0.9447735 0.9914384 0.968106 1 1 0.9447735 0.9914384 0 0 0 0 1 0.968106 0 0 0 FALSE FALSE NA NA NA NA NA NUP160 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP160 NA NA NA ENSG00000030066 ENSE00001606096 NA NA NA NA NA NA NA 0.02397915 FALSE NA ENSE00001606096_003 ENSE00001606096 003 11 47819888 47820057 - 32 96 42 A G 47819918 1217 140 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGCAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798365 47798366 47798366 downstr_intron 2 1.064516 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGCAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 198 891 0 0.001439114 0.000719557 1 1 0.9447735 0.9914384 NA NA -0.9447735 -0.9899993 1 0.968106 NA -0.9673864 NA TRUE NA 1 8.924 . splice_donor_variant HIGH NUP160 HGNC 18017 ENST00000528071 22/25 1 NA HC TAC A,G 8.236e-06 11:47798366 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 splice_donor_variant 5.267209 0.9913 0.99811 0.156188 0.9922551 0.984293 0.02397915 FALSE 4.0657e-06 ENSE00001606096_005 ENSE00001606096 005 11 47819888 47820057 - 32 96 42 T C 47819933 1219 125 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGGCTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798380 47798381 47798381 exon -14 0.8645833 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGGCTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 526 243 1 1 1 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.008561565 1 0.968106 NA 0.03189402 NA FALSE NA 1 5.93 . missense_variant MODERATE NUP160 HGNC 18017 ENST00000528071 22/26 1 benign(0.325) NA GTC T,C 8.236e-06 11:47798381 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 missense_variant 3.387792 0.98529 0.98481 0.722319 0.9986548 0 0.02397915 FALSE 4.06385e-06 ENSE00001606096_006 ENSE00001606096 006 11 47819888 47820057 - 32 96 42 C T 47819940 1220 118 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAAGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798387 47798388 47798388 exon -21 0.7916667 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAAGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 504 150 0.9956463 1 0.9978231 1 1 0.9447735 0.9914384 NA NA 0.05087273 0.008561565 1 0.968106 NA 0.02971715 NA FALSE NA 0.767 2.847 rs114776609 missense_variant MODERATE NUP160 HGNC 18017 ENST00000528071 22/26 rs114776609 1 benign(0.007) T:0.0016 T:0.0061 T:0 NA T:0 T:0 T:0 T:0.0098 T:0 CCT C,T 0.0008072 11:47798388 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 missense_variant 2.165418 0.98404 0.97664 0.722319 0.3682066 0 0.02397915 FALSE 0.000540422 ENSE00001606096_007 ENSE00001606096 007 11 47819888 47820057 - 32 96 42 G A 47819948 1221 110 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAATTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798395 47798396 47798396 exon -29 0.7083333 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAATTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 817 52 1 0.9969463 0.9984732 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.005507901 1 0.968106 NA 0.03036719 NA FALSE NA 1 6.272 . missense_variant MODERATE NUP160 HGNC 18017 ENST00000528071 22/26 rs558863897 1 benign(0.374) A:0.0010 A:0 A:0 NA A:0 A:0 A:0.0051 AGT G,A 9.884e-05 11:47798396 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 missense_variant 3.342836 0.98356 0.97382 0.722319 0.9979498 0 0.02397915 FALSE 0.000105652 ENSE00001606096_009 ENSE00001606096 009 11 47819888 47820057 - 32 96 42 T C 47819961 1223 97 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTGCATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798408 47798409 47798409 exon -42 0.5729167 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTGCATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 164 1880 1 0.9973661 0.998683 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.005927638 1 0.968106 NA 0.03057706 NA FALSE NA 0.983 2.073 . missense_variant MODERATE NUP160 HGNC 18017 ENST00000528071 22/26 1 benign(0.005) NA GTA T,C 8.236e-06 11:47798409 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 missense_variant 1.180187 0.92776 0.9196 0.722319 0.9860122 0 0.02397915 FALSE 8.12764e-06 ENSE00001606096_010 ENSE00001606096 010 11 47819888 47820057 - 32 96 42 C T 47819968 1224 90 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAATTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798415 47798416 47798416 exon 48 0.5 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAATTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 128 59 0.9909827 0.9993523 0.9951675 1 1 0.9447735 0.9914384 NA NA 0.04620917 0.007913915 1 0.968106 NA 0.02706154 NA FALSE NA 1 3.746 . synonymous_variant LOW NUP160 HGNC 18017 ENST00000528071 22/26 1 NA ACT C,T 8.236e-06 11:47798416 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 synonymous_variant 1.407429 0.98818 0.97414 0.722319 0.7236837 0 0.02397915 FALSE 4.06395e-06 ENSE00001606096_011 ENSE00001606096 011 11 47819888 47820057 - 32 96 42 A C 47819971 1225 87 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATGCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798418 47798419 47798419 exon 45 0.46875 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATGCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 206 1334 1 0.9929235 0.9964618 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.001485096 1 0.968106 NA 0.02835579 NA FALSE NA 1 1.052 . missense_variant MODERATE NUP160 HGNC 18017 ENST00000528071 22/26 1 probably_damaging(0.988) NA GAA A,C 8.236e-06 11:47798419 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 missense_variant 4.522683 0.97322 0.92415 0.722319 0.9967241 0 0.02397915 FALSE 8.1283e-06 ENSE00001606096_013 ENSE00001606096 013 11 47819888 47820057 - 32 96 42 G A 47819979 1227 79 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAATTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798426 47798427 47798427 exon 37 0.3854167 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAATTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 94 330 1 1 1 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.008561565 1 0.968106 NA 0.03189402 NA FALSE NA 1 5.479 . synonymous_variant LOW NUP160 HGNC 18017 ENST00000528071 22/26 1 NA AGT G,A 8.236e-06 11:47798427 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 synonymous_variant 1.21973 0.98147 0.98391 0.722319 0.6948888 0 0.02397915 FALSE 4.06732e-06 ENSE00001606096_014 ENSE00001606096 014 11 47819888 47820057 - 32 96 42 T G 47819999 1228 59 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGCTGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798446 47798447 47798447 exon 17 0.1770833 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGCTGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 325 1031 0.9909173 0.9999631 0.9954402 1 1 0.9447735 0.9914384 NA NA 0.04614383 0.008524644 1 0.968106 NA 0.02733424 NA FALSE NA 1 5.981 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:47798447 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 missense_variant 4.595715 0.99128 0.99012 0.722319 0.9921283 0 0.02397915 FALSE 4.08847e-06 ENSE00001606096_015 ENSE00001606096 015 11 47819888 47820057 - 32 96 42 T C 47819999 1229 59 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGGTGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798446 47798447 47798447 exon 17 0.1770833 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGGTGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 380 1451 1 0.965942 0.982971 1 1 0.9447735 0.9914384 NA NA 0.05522648 -0.0254964 1 0.968106 NA 0.01486504 NA FALSE NA 1 5.981 NA NA NA NUP160 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP160 NA NA NA ENSG00000030066 ENSE00001606096 missense_variant 4.381237 0.99101 0.98654 0.722319 0.9953628 0 0.02397915 FALSE 4.08847e-06 ENSE00001606096_016 ENSE00001606096 016 11 47819888 47820057 - 32 96 42 G C 47820006 1230 52 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGAGTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798453 47798454 47798454 exon 10 0.1041667 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGAGTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 11 45 1 1 1 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.008561565 1 0.968106 NA 0.03189402 NA FALSE NA 0.617 1.091 . missense_variant MODERATE NUP160 HGNC 18017 ENST00000528071 22/26 1 probably_damaging(0.991) NA AGT G,C 8.236e-06 11:47798454 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 missense_variant 3.960982 0.34773 0.72527 0.706548 0.9963852 0 0.02397915 FALSE 4.11181e-06 ENSE00001606096_017 ENSE00001606096 017 11 47819888 47820057 - 32 96 42 T G 47820007 1231 51 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGCCTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798454 47798455 47798455 exon 9 0.09375 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGCCTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 266 1525 0.9923437 0.9995244 0.9959341 1 1 0.9447735 0.9914384 NA NA 0.04757015 0.008086001 1 0.968106 NA 0.02782808 NA FALSE NA 0 -1.793 . synonymous_variant LOW NUP160 HGNC 18017 ENST00000528071 22/26 1 NA GTC T,G 4.942e-05 11:47798455 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 synonymous_variant 0.506374 0.14215 0.05191 0.706548 0.5680341 0 0.02397915 FALSE 4.18137e-05 ENSE00001606096_019 ENSE00001606096 019 11 47819888 47820057 - 32 96 42 C G 47820015 1233 43 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGCTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798462 47798463 47798463 exon 1 0.01041667 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGCTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 67 345 1 0.9955786 0.9977893 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.00414012 1 0.968106 NA 0.0296833 NA FALSE NA 1 5.761 . missense_variant&splice_region_variant MODERATE NUP160 HGNC 18017 ENST00000528071 22/26 rs201885703 1 benign(0.274) NA G:0 G:0.0001 ACC C,G 2.471e-05 11:47798463 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 missense_variant 6.095805 0.98949 0.99045 0.706548 0.9922036 0 0.02397915 FALSE 5.05604e-05 ENSE00001606096_020 ENSE00001606096 020 11 47819888 47820057 - 32 96 42 C T 47820020 1234 38 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCATTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798467 47798468 47798468 upstr_intron -5 -0.0952381 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCATTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 366 605 1 1 1 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.008561565 1 0.968106 NA 0.03189402 NA FALSE NA 0 0.135 . splice_region_variant&intron_variant LOW NUP160 HGNC 18017 ENST00000528071 21/25 rs201369503 1 T:0.0004 T:0.0008 T:0 NA T:0 T:0 T:0.001 ACG C,T 9.884e-05 11:47798468 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 splice_region_variant 0.350556 0.23438 0.15711 0.156188 0.3097844 0.164761 0.02397915 FALSE 0.000228132 ENSE00001606096_021 ENSE00001606096 021 11 47819888 47820057 - 32 96 42 G A 47820021 1235 37 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTTGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798468 47798469 47798469 upstr_intron -6 -0.1190476 ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTTGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 272 39 0.9814012 0.9990182 0.9902097 1 1 0.9447735 0.9914384 NA NA 0.03662765 0.00757974 1 0.968106 NA 0.02210369 NA FALSE NA 0 -0.463 . splice_region_variant&intron_variant LOW NUP160 HGNC 18017 ENST00000528071 21/25 1 NA CGA G,A 8.236e-06 11:47798469 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 splice_region_variant -0.172571 0.14872 0.15465 0.062308 0.3859411 0.164761 0.02397915 FALSE NA ENSE00001606096_022 ENSE00001606096 022 11 47819888 47820057 - 32 96 42 T C 47820027 1236 31 ACAATATTAATTTTAATGGAAATTTCTTCTGTTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798474 47798475 47798475 upstr_intron -12 -0.2619048 ACAATATTAATTTTAATGGAAATTTCTTCTGTTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 317 641 1 0.9970367 0.9985184 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.00559829 1 0.968106 NA 0.03041239 NA FALSE NA 0 -3.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:47798475 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 intron_variant -0.171741 0.13507 0.02482 0.062308 0.2810031 0.152352 0.02397915 FALSE 1.76638e-05 ENSE00001606096_023 ENSE00001606096 023 11 47819888 47820057 - 32 96 42 T G 47820027 1237 31 ACAATATTAATTTTAATGGAAATTTCTTCTCTTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798474 47798475 47798475 upstr_intron -12 -0.2619048 ACAATATTAATTTTAATGGAAATTTCTTCTCTTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 33 59 1 0.988224 0.994112 1 1 0.9447735 0.9914384 NA NA 0.05522648 -0.003214404 1 0.968106 NA 0.02600604 NA FALSE NA 0 -3.284 NA NA NA NUP160 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP160 NA NA NA ENSG00000030066 ENSE00001606096 intron_variant -0.00606 0.13759 0.0422 0.062308 0.33012 0.152352 0.02397915 FALSE 4.41595e-06 ENSE00001606096_024 ENSE00001606096 024 11 47819888 47820057 - 32 96 42 A G 47820028 1238 30 ACAATATTAATTTTAATGGAAATTTCTTCCATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 47798475 47798476 47798476 upstr_intron -13 -0.2857143 ACAATATTAATTTTAATGGAAATTTCTTCCATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT mutant NA NA NA NA NA 303 1720 1 0.9996452 0.9998226 1 1 0.9447735 0.9914384 NA NA 0.05522648 0.008206761 1 0.968106 NA 0.03171662 NA FALSE NA 0 0.442 . intron_variant MODIFIER NUP160 HGNC 18017 ENST00000528071 21/25 1 NA TAG A,G 8.237e-06 11:47798476 NUP160 HGNC Symbol protein_coding 70468 ENSG00000030066 ENSE00001606096 intron_variant 0.023457 0.24399 0.10123 0.062308 0.4665524 0.152352 0.02397915 FALSE 4.41614e-06 ENSE00001606096_BRK ENSE00001606096 BRK 11 47819888 47820057 - 32 96 42 A,G; T,T NA NA NA ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTTTGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGCCAAGAATTGGCTGCAATTTGGTTGTTTTCTT 47798335 47798505 NA NA NA NA NA NA ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTTTGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGCCAAGAATTGGCTGCAATTTGGTTGTTTTCTT ACAATATTAATTTTAATGGAAATTTCTTCTATTTCTCGTTAGGTTTTACGACTACTAGATGTCATTGGTTTGCCTGAACTGGTTATTCAGTTGGCTACATCAGCCATAACTGAAGCAGGTGATGACTGGAAAAGTCAGGTAAGAATTGGCTGCAATTTGGTTGTTTTCTT control NA NA NA NA NA 263 487 0.01640516 0.02339733 0.01990125 1 1 0.9447735 0.9914384 NA NA -0.9283684 -0.9680411 1 0.968106 NA -0.9482047 NA TRUE NA NA NA NA NA NA NUP160 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP160 NA NA NA ENSG00000030066 ENSE00001606096 NA NA NA NA NA NA NA 0.02397915 FALSE NA ENSE00001606225_000 ENSE00001606225 000 17 17053413 17053582 + 45 90 35 NA NA NA NA NA CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 NA NA NA NA NA NA TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG natural 18 23 0.9989936 0.9921816 0.9955876 1251 4150 0.8496284 0.8235766 0.8366025 0.9989936 0.9921816 0.8496284 0.8235766 0 0 0 0 0.9955876 0.8366025 0 0 0 FALSE FALSE NA NA NA NA NA MPRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPRIP NA NA NA ENSG00000133030 ENSE00001606225 NA NA NA NA NA NA NA 0.870658 FALSE NA ENSE00001606225_003 ENSE00001606225 003 17 17053413 17053582 + 45 90 35 A G 17053438 860 26 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGGAAGTGAGAACGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150123 17150124 17150124 upstr_intron -20 -0.4222222 TTCTACTTCCTAAAAATCTCAAGACGTTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant NA NA NA NA NA 82 616 0.9981259 1 0.999063 0.9989936 0.9921816 0.8496284 0.8235766 NA NA 0.1484975 0.1764234 0.9955876 0.8366025 NA 0.1624604 NA FALSE NA 0 -1.135 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 rs377407141 1 NA G:0.0002 G:0 CAT A,G 8.236e-06 17:17150124 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 non_coding_transcript_exon_variant 0.197495 0.28237 0.0392 0.101703 0.5559157 0.132241 0.870658 FALSE 8.18659e-06 ENSE00001606225_005 ENSE00001606225 005 17 17053413 17053582 + 45 90 35 C G 17053448 862 36 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGCAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150133 17150134 17150134 upstr_intron -10 -0.2 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTGCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant NA NA NA NA NA 695 185 0.9990487 1 0.9995244 0.9989936 0.9921816 0.8496284 0.8235766 NA NA 0.1494203 0.1764234 0.9955876 0.8366025 NA 0.1629218 NA FALSE NA 0 -0.053 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 1 NA TCC C,G 2.471e-05 17:17150134 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 non_coding_transcript_exon_variant 1.158184 0.23581 0.15793 0.101703 0.7244403 0.212926 0.870658 FALSE 1.63036e-05 ENSE00001606225_006 ENSE00001606225 006 17 17053413 17053582 + 45 90 35 G A 17053453 863 41 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCTGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150138 17150139 17150139 upstr_intron -5 -0.08888889 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCAGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant NA NA NA NA NA 94 94 1 0.9643226 0.9821613 0.9989936 0.9921816 0.8496284 0.8235766 NA NA 0.1503716 0.140746 0.9955876 0.8366025 NA 0.1455588 NA FALSE NA 0.007 -0.135 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:17150139 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 splice_region_variant 1.601613 0.48763 0.17317 0.101703 0.9387276 0.423612 0.870658 FALSE 1.63619e-05 ENSE00001606225_008 ENSE00001606225 008 17 17053413 17053582 + 45 90 35 G T 17053453 865 41 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCAGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150138 17150139 17150139 upstr_intron -5 -0.08888889 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCTGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant NA NA NA NA NA 16 471 1 0.9921137 0.9960568 0.9989936 0.9921816 0.8496284 0.8235766 NA NA 0.1503716 0.168537 0.9955876 0.8366025 NA 0.1594543 NA FALSE NA 0.007 -0.135 NA NA NA MPRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPRIP NA NA NA ENSG00000133030 ENSE00001606225 splice_region_variant 1.472468 0.35532 0.01303 0.101703 0.8057245 0.423612 0.870658 FALSE 1.63619e-05 ENSE00001606225_009 ENSE00001606225 009 17 17053413 17053582 + 45 90 35 C T 17053463 866 51 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCAGCTGCCTGCCGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150148 17150149 17150149 exon 6 0.06666667 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCTGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant 13 24 0.9880634 0.9344984 0.9612809 NA NA NA NA NA 0.9989936 0.9921816 0.8496284 0.8235766 -0.01093026 -0.05768317 NA NA 0.9955876 0.8366025 -0.03430672 NA NA NA FALSE 0.034 -1.068 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 1 NA CCG C,T 1.647e-05 17:17150149 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 synonymous_variant 2.204864 0.26967 0.0613 0.730579 0.8803972 0 0.870658 FALSE 1.22189e-05 ENSE00001606225_016 ENSE00001606225 016 17 17053413 17053582 + 45 90 35 C T 17053499 873 87 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATCATAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150184 17150185 17150185 exon 42 0.4666667 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTATGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant NA NA NA NA NA 378 304 0.990124 1 0.995062 0.9989936 0.9921816 0.8496284 0.8235766 NA NA 0.1404956 0.1764234 0.9955876 0.8366025 NA 0.1584595 NA FALSE NA 0 -2.245 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 1 NA ACG C,T 6.589e-05 17:17150185 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 synonymous_variant 1.465631 0.2544 0.0675 0.730579 0.8886786 0 0.870658 FALSE 7.32255e-05 ENSE00001606225_017 ENSE00001606225 017 17 17053413 17053582 + 45 90 35 G A 17053500 874 88 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATTGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150185 17150186 17150186 exon 43 0.4777778 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACAATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant 22 23 0.85 0.85 0.85 NA NA NA NA NA 0.9989936 0.9921816 0.8496284 0.8235766 -0.1489936 -0.1421816 NA NA 0.9955876 0.8366025 -0.1455876 NA NA NA FALSE 0.882 1.5 rs144918812 upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 rs144918812 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGA G,A 3.295e-05 17:17150186 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 missense_variant 0.651056 0.43383 0.6591 0.730579 0.9063389 0 0.870658 FALSE 3.25447e-05 ENSE00001606225_021 ENSE00001606225 021 17 17053413 17053582 + 45 90 35 C G 17053515 878 103 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGCATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150200 17150201 17150201 exon -33 0.6444444 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATGCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant NA NA NA NA NA 35 249 1 1 1 0.9989936 0.9921816 0.8496284 0.8235766 NA NA 0.1503716 0.1764234 0.9955876 0.8366025 NA 0.1633975 NA FALSE NA 0.997 3.848 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 1 NA TCC C,G 8.236e-06 17:17150201 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 missense_variant 2.505134 0.97356 0.93393 0.730579 0.9914875 0 0.870658 FALSE 6.0989e-05 ENSE00001606225_022 ENSE00001606225 022 17 17053413 17053582 + 45 90 35 A G 17053528 879 116 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAGCCATAGCTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150213 17150214 17150214 exon -20 0.7888889 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAGCTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant 12 38 0.85 0.85 0.85 83 88 0.967185 0.95 0.9585925 0.9989936 0.9921816 0.8496284 0.8235766 -0.1489936 -0.1421816 0.1175566 0.1264234 0.9955876 0.8366025 -0.1455876 0.12199 0.2675776 FALSE FALSE 1 9.233 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 1 NA AAC A,G 8.236e-06 17:17150214 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 missense_variant 5.760984 0.97679 0.97363 0.730579 0.9990177 0 0.870658 FALSE 4.06497e-06 ENSE00001606225_023 ENSE00001606225 023 17 17053413 17053582 + 45 90 35 C T 17053535 880 123 CAAGCCTGTGGCCCCACTTCCATCCCTGGACTCACATGTATCTGGAAACCATAGTTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150220 17150221 17150221 exon -13 0.8666667 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGTTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant 193 440 0.8414326 0.8594962 0.8504644 NA NA NA NA NA 0.9989936 0.9921816 0.8496284 0.8235766 -0.157561 -0.1326854 NA NA 0.9955876 0.8366025 -0.1451232 NA NA NA FALSE 1 1.581 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 1 NA GCT C,T 8.236e-06 17:17150221 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 synonymous_variant 1.975186 0.97248 0.8751 0.730579 0.9242812 0 0.870658 FALSE 4.0654e-06 ENSE00001606225_024 ENSE00001606225 024 17 17053413 17053582 + 45 90 35 A T 17053551 881 139 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGTGTCCAGGGATGGAAGTGGGGCCACAGGCTTG 17150098 17150268 17150236 17150237 17150237 downstr_intron 4 1.117647 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGTGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant 43 20 0 0 0 NA NA NA NA NA 0.9989936 0.9921816 0.8496284 0.8235766 -0.9989936 -0.9921816 NA NA 0.9955876 0.8366025 -0.9955876 NA NA NA TRUE 1 2.279 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 1 NA GAG A,T 8.236e-06 17:17150237 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 splice_region_variant 1.461213 0.94132 0.86436 0.108992 0.9119063 0.559501 0.870658 FALSE 4.06977e-06 ENSE00001606225_025 ENSE00001606225 025 17 17053413 17053582 + 45 90 35 G A 17053562 882 150 CAAGCCTGTGGCCCCACTTCTATCCCTGGACTCACATGTATCTGGAAGCCATAGTTTCTCTGAACTGGATACTCTGTGACATCGTAACATGCGGACAAGTCAATTTCTCCATCCAAGTCGGCTGCCTGCCGAGGGAAGTGAGAATGTCTTGAGATTTTTAGGAAGTAGAA 17150098 17150268 17150247 17150248 17150248 downstr_intron 15 1.441176 TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATAGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG mutant NA NA NA NA NA 22 143 1 0.9645344 0.9822672 0.9989936 0.9921816 0.8496284 0.8235766 NA NA 0.1503716 0.1409578 0.9955876 0.8366025 NA 0.1456647 NA FALSE NA 0.001 -0.109 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000579832 rs202086832 1 A:0.0012 A:0 A:0 NA A:0.005 A:0 A:0.001 TGG G,A 0.0001812 17:17150248 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001606225 intron_variant 0.136055 0.24719 0.13837 0.108992 0.699396 0.123284 0.870658 FALSE 0.000150834 ENSE00001606225_BRK ENSE00001606225 BRK 17 17053413 17053582 + 45 90 35 A,G; T,T NA NA NA TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCTTGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATCCGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG 17150098 17150268 NA NA NA NA NA NA TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCTTGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATCCGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG TTCTACTTCCTAAAAATCTCAAGACATTCTCACTTCCCTCGGCAGGCAGCCGACTTGGATGGAGAAATTGACTTGTCCGCATGTTACGATGTCACAGAGTATCCAGTTCAGAGAAACTATGGCTTCCAGATACATGTGAGTCCAGGGATGGAAGTGGGGCCACAGGCTTG control NA NA NA NA NA 455 1588 0.01051339 0.0002013977 0.005357396 0.9989936 0.9921816 0.8496284 0.8235766 NA NA -0.839115 -0.8233752 0.9955876 0.8366025 NA -0.8312451 NA TRUE NA NA NA NA NA NA MPRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPRIP NA NA NA ENSG00000133030 ENSE00001606225 NA NA NA NA NA NA NA 0.870658 FALSE NA ENSE00001606284_000 ENSE00001606284 000 12 48387539 48387708 - 53 54 63 NA NA NA NA NA CGTGCATTTCTTCCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC 47993755 47993925 NA NA NA NA NA NA CGTGCATTTCTTCCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC CGTGCATTTCTTCCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC natural 32 15 0.9946519 0.9891049 0.9918784 385 1205 0.9951914 0.913937 0.9545642 0.9946519 0.9891049 0.9951914 0.913937 0 0 0 0 0.9918784 0.9545642 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001606284 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001606284_002 ENSE00001606284 002 12 48387539 48387708 - 53 54 63 C T 48387563 1271 146 CGTGCATTTCTTCCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGAGGAGGAGGGAGACAATGAGGAGCC 47993755 47993925 47993779 47993780 47993780 downstr_intron 29 1.557692 CGTGCATTTCTTCCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGAGGAGGAGGGAGACAATGAGGAGCC CGTGCATTTCTTCCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC mutant 14 14 0.85 0.85 0.85 NA NA NA NA NA 0.9946519 0.9891049 0.9951914 0.913937 -0.1446519 -0.1391049 NA NA 0.9918784 0.9545642 -0.1418784 NA NA NA FALSE 0 0.12 . intron_variant MODIFIER COL2A1 HGNC 2200 ENST00000380518 14/53 rs373453716 1 NA T:0.0002 T:0 CCC C,T 2.471e-05 12:47993780 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001606284 intron_variant -0.045515 0.20302 0.04211 0.06567 0.359463 0.10308 1 TRUE 4.06197e-06 ENSE00001606284_017 ENSE00001606284 017 12 48387539 48387708 - 53 54 63 C T 48387679 1286 30 CGTGCATTTCTTCCAACTTGGGTTTCCCAAAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC 47993755 47993925 47993895 47993896 47993896 upstr_intron -34 -0.5238095 CGTGCATTTCTTCCAACTTGGGTTTCCCAAAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC CGTGCATTTCTTCCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC mutant 14 10 1 0.9890638 0.9945319 NA NA NA NA NA 0.9946519 0.9891049 0.9951914 0.913937 0.005348078 -4.110795e-05 NA NA 0.9918784 0.9545642 0.002653485 NA NA NA FALSE 0 -0.375 . intron_variant MODIFIER COL2A1 HGNC 2200 ENST00000380518 13/53 1 NA TCT C,T 8.236e-06 12:47993896 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001606284 intron_variant 0.591615 0.30015 0.02089 0.06567 0.7587708 0.14219 1 TRUE 4.06075e-06 ENSE00001606284_021 ENSE00001606284 021 12 48387539 48387708 - 53 54 63 G A 48387696 1290 13 CGTGCATTTCTTTCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC 47993755 47993925 47993912 47993913 47993913 upstr_intron -51 -0.7936508 CGTGCATTTCTTTCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC CGTGCATTTCTTCCAACTTGGGTTTCCCAGAAGTCTGATTGAACATTTTCTCTTGTTCCCTAGGGTTATCCAGGCCTGGACGGTGCTAAGGGAGAGGCGGGTGCTCCTGGTGTGAAGGTGAGAGGCCAGAAAGTACAATGGGATGGGGAGGAGGGAGACAATGAGGAGCC mutant NA NA NA NA NA 145 152 1 0.9887412 0.9943706 0.9946519 0.9891049 0.9951914 0.913937 NA NA 0.004808574 0.07480421 0.9918784 0.9545642 NA 0.03980639 NA FALSE NA 0.001 0.068 . intron_variant MODIFIER COL2A1 HGNC 2200 ENST00000380518 13/53 1 NA GGA G,A 8.236e-06 12:47993913 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001606284 intron_variant 0.174251 0.32772 0.12127 0.06567 0.6015168 0.0443366 1 TRUE 4.06072e-06 ENSE00001606314_000 ENSE00001606314 000 12 22012481 22012650 - 39 81 50 NA NA NA NA NA ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 NA NA NA NA NA NA ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT natural 148 83 0.9844107 0.9891268 0.9867687 10598 11060 0.9353338 0.9431758 0.9392548 0.9844107 0.9891268 0.9353338 0.9431758 0 0 0 0 0.9867687 0.9392548 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001606314 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001606314_008 ENSE00001606314 008 12 22012481 22012650 - 39 81 50 C T 22012550 780 101 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCACTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859615 21859616 21859616 exon -31 0.6296296 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCACTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 134 262 0.85 0.85 0.85 1809 805 0.8544218 0.9742817 0.9143518 0.9844107 0.9891268 0.9353338 0.9431758 -0.1344107 -0.1391268 -0.08091193 0.03110596 0.9867687 0.9392548 -0.1367687 -0.02490299 0.1118657 FALSE FALSE 0.896 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001606314 synonymous_variant 2.245264 0.95883 0.46335 0.487112 0.8202729 0 9.990095e-18 FALSE 3.25068e-05 ENSE00001606314_020 ENSE00001606314 020 12 22012481 22012650 - 39 81 50 C A 22012615 792 36 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGTTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859680 21859681 21859681 upstr_intron -15 -0.28 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGTTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 2143 1814 0.9916928 0.9949128 0.9933028 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.05635907 0.05173706 0.9867687 0.9392548 NA 0.05404807 NA FALSE NA 0 -1.738 NA NA NA RP11-729I10.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC008250.1 NA NA NA ENSG00000257022 ENSE00001606314 intron_variant 1.329078 0.25991 0.03181 0.061011 0.7572534 0.0443366 NA NA 4.06507e-06 ENSE00001606314_BRK ENSE00001606314 BRK 12 22012481 22012650 - 39 81 50 A,G; T,T NA NA NA ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTTTGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGCCAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 NA NA NA NA NA NA ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTTTGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGCCAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT control 74 71 0.03510262 0 0.01755131 786 621 0 0.0367751 0.01838755 0.9844107 0.9891268 0.9353338 0.9431758 -0.9493081 -0.9891268 -0.9353338 -0.9064007 0.9867687 0.9392548 -0.9692174 -0.9208672 0.04835022 TRUE TRUE NA NA NA NA NA RP11-729I10.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC008250.1 NA NA NA ENSG00000257022 ENSE00001606314 NA NA NA NA NA NA NA NA NA NA ENSE00001606466_000 ENSE00001606466 000 9 137655471 137655640 + 68 45 57 NA NA NA NA NA ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC 134763624 134763794 NA NA NA NA NA NA ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC natural NA NA NA NA NA 683 293 0.8631212 0.9800557 0.9215884 NA NA 0.8631212 0.9800557 NA NA 0 0 NA 0.9215884 NA 0 NA FALSE NA NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001606466 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001606466_004 ENSE00001606466 004 9 137655471 137655640 + 68 45 57 T C 137655506 3636 36 ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCACTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC 134763624 134763794 134763659 134763660 134763660 upstr_intron -33 -0.4705882 ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCACTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC mutant NA NA NA NA NA 23 186 1 1 1 NA NA 0.8631212 0.9800557 NA NA 0.1368788 0.01994434 NA 0.9215884 NA 0.07841155 NA FALSE NA 0.003 0.261 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 19/65 1 NA ATT T 8.236e-06 9:134763660 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001606466 intron_variant 0.121525 0.15489 0.00578 0.062308 0.4559561 0.119237 1 TRUE 4.06309e-06 ENSE00001606466_010 ENSE00001606466 010 9 137655471 137655640 + 68 45 57 C T 137655544 3642 74 ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGATGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC 134763624 134763794 134763697 134763698 134763698 exon 6 0.1333333 ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGATGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC mutant NA NA NA NA NA 195 31 1 0.8 0.9 NA NA 0.8631212 0.9800557 NA NA 0.1368788 -0.1800557 NA 0.9215884 NA -0.02158845 NA FALSE NA 0.075 -1.318 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 20/66 COSM753242 1 NA ACG C 2.471e-05 9:134763698 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001606466 synonymous_variant 1.886576 0.9052 0.01804 0.706548 0.5110035 0 1 TRUE 1.21904e-05 ENSE00001606466_027 ENSE00001606466 027 9 137655471 137655640 + 68 45 57 G C 137655625 3659 155 ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGCAGAAAGGCTTTGTCC 134763624 134763794 134763778 134763779 134763779 downstr_intron 42 1.75 ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGCAGAAAGGCTTTGTCC ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC mutant NA NA NA NA NA 29 207 1 1 1 NA NA 0.8631212 0.9800557 NA NA 0.1368788 0.01994434 NA 0.9215884 NA 0.07841155 NA FALSE NA 0 -0.097 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 20/65 rs368784912 1 NA C:0 C:0.0002 GGA G 4.119e-05 9:134763779 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001606466 intron_variant -0.188288 0.13198 0.09259 0.099367 0.4857147 0.11352 1 TRUE 2.46047e-05 ENSE00001606466_BRK ENSE00001606466 BRK 9 137655471 137655640 + 68 45 57 A,G; T,T NA NA NA ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCTTGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCCCAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC 134763624 134763794 NA NA NA NA NA NA ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCTTGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCCCAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC ACTGAGGGGAAGCTGGTGTCCAGGCTAACAGCTCATTTCTCTAACCTTGCCTTTTTTCTCCTCTGCAGGGTGACGACGGAGAAGTTGGGCCCAGGGGGCTGCCTGGGGAGCCCGTAAGTCTGTGAGCTGAGTGGGACGGTGGGGGCTCAGTGTGGAGAAAGGCTTTGTCC control NA NA NA NA NA 21 138 0 0 0 NA NA 0.8631212 0.9800557 NA NA -0.8631212 -0.9800557 NA 0.9215884 NA -0.9215884 NA TRUE NA NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001606466 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001607254_000 ENSE00001607254 000 14 39587158 39587327 + 45 90 35 NA NA NA NA NA TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 NA NA NA NA NA NA TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT natural 37 28 0.9954187 0.9895827 0.9925007 7776 3789 0.9657354 0.9772063 0.9714708 0.9954187 0.9895827 0.9657354 0.9772063 0 0 0 0 0.9925007 0.9714708 0 0 0 FALSE FALSE NA NA NA NA NA GEMIN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GEMIN2 NA NA NA ENSG00000092208 ENSE00003671537 NA NA NA NA NA NA NA 0.006609197 FALSE NA ENSE00001607254_001 ENSE00001607254 001 14 39587158 39587327 + 45 90 35 G A 39587170 299 13 TTTGACACTAATATTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39117965 39117966 39117966 upstr_intron -33 -0.7111111 TTTGACACTAATATTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 825 1265 0.9926751 0.9661781 0.9794266 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.02693972 -0.01102811 0.9925007 0.9714708 NA 0.007955805 NA FALSE NA 0 -0.318 . intron_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 2/4 1 NA TGT G,A 8.236e-06 14:39117966 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 intron_variant 0.092775 0.08691 0.00079 0.256391 0.4987298 0.0759802 0.006609197 FALSE NA ENSE00001607254_002 ENSE00001607254 002 14 39587158 39587327 + 45 90 35 C A 39587176 300 19 TTTGACACTAATGTTGATACTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39117971 39117972 39117972 upstr_intron -27 -0.5777778 TTTGACACTAATGTTGATACTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 865 2420 1 0.9930095 0.9965048 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03426463 0.01580326 0.9925007 0.9714708 NA 0.02503394 NA FALSE NA 0 -0.324 . intron_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 2/4 rs375414937 1 NA A:0.0002 A:0 TCC C,A 8.236e-06 14:39117972 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 intron_variant 0.349786 0.2188 0.04821 0.110006 0.6878761 0.0759802 0.006609197 FALSE NA ENSE00001607254_003 ENSE00001607254 003 14 39587158 39587327 + 45 90 35 C G 39587203 301 46 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGGTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39117998 39117999 39117999 exon 1 0.01111111 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGGTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 2987 287 0.9989443 0.9964761 0.9977102 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03320897 0.01926985 0.9925007 0.9714708 NA 0.02623941 NA FALSE NA 1 2.758 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA GCT C,G 8.236e-06 14:39117999 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 1.764496 0.99099 0.93172 0.732398 0.949856 0 0.006609197 FALSE 1.24582e-05 ENSE00001607254_004 ENSE00001607254 004 14 39587158 39587327 + 45 90 35 T C 39587205 302 48 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTCTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118000 39118001 39118001 exon 3 0.03333333 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTCTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 269 832 0.9998469 0.9997251 0.999786 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03411155 0.02251883 0.9925007 0.9714708 NA 0.02831519 NA FALSE NA 0.995 0.044 rs148880033 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW GEMIN2 HGNC 10884 ENST00000525430 3/5 rs148880033 1 NA C:0.0009 C:0 TTT T,C 7.413e-05 14:39118001 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 splice_region_variant 1.040884 0.96718 0.68023 0.732398 0.664734 0 0.006609197 FALSE 4.56363e-05 ENSE00001607254_005 ENSE00001607254 005 14 39587158 39587327 + 45 90 35 C T 39587218 303 61 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAATCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118013 39118014 39118014 exon 16 0.1777778 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAATCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 882 521 0.9994387 1 0.9997194 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03370337 0.02279375 0.9925007 0.9714708 NA 0.02824856 NA FALSE NA 1 5.319 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA ACC C,T 8.237e-06 14:39118014 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 6.357457 0.99051 0.94659 0.732398 0.9991812 0 0.006609197 FALSE NA ENSE00001607254_006 ENSE00001607254 006 14 39587158 39587327 + 45 90 35 C A 39587219 304 62 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACACGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118014 39118015 39118015 exon 17 0.1888889 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACACGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 1416 429 0.9966811 1 0.9983406 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03094574 0.02279375 0.9925007 0.9714708 NA 0.02686974 NA FALSE NA 1 5.319 rs143568851 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 rs143568851 1 NA A:0.0002 A:0 CCC C,A 8.236e-06 14:39118015 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 6.77416 0.9909 0.95695 0.732398 0.9959067 0 0.006609197 FALSE 4.13609e-06 ENSE00001607254_007 ENSE00001607254 007 14 39587158 39587327 + 45 90 35 C A 39587220 305 63 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCAGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118015 39118016 39118016 exon 18 0.2 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCAGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 1730 287 0.9967437 0.9411026 0.9689231 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03100829 -0.03610365 0.9925007 0.9714708 NA -0.002547679 NA FALSE NA 0.999 0.255 rs150986614 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 rs150986614 1 A:0.0018 A:0 A:0.0086 NA A:0 A:0.003 A:0 A:0.0009 A:0.0041 CCG C,A 0.00252 14:39118016 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 synonymous_variant 2.400993 0.96925 0.52453 0.732398 0.6746221 0 0.006609197 FALSE 0.00264478 ENSE00001607254_008 ENSE00001607254 008 14 39587158 39587327 + 45 90 35 G A 39587221 306 64 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCACCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118016 39118017 39118017 exon 19 0.2111111 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCACCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 2211 3473 0.9960688 0.9991518 0.9976103 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03033344 0.0219455 0.9925007 0.9714708 NA 0.02613947 NA FALSE NA 1 6.687 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA CGC G,A 8.236e-06 14:39118017 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 6.966177 0.99073 0.96486 0.732398 0.9993336 0 0.006609197 FALSE 1.2424e-05 ENSE00001607254_009 ENSE00001607254 009 14 39587158 39587327 + 45 90 35 C G 39587225 307 68 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCGTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118020 39118021 39118021 exon 23 0.2555556 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCGTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 388 1247 0.9889509 0.9972494 0.9931001 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.02321549 0.02004311 0.9925007 0.9714708 NA 0.0216293 NA FALSE NA 1 5.319 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA CCT C,G 8.236e-06 14:39118021 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 5.975309 0.99099 0.95938 0.732398 0.9983078 0 0.006609197 FALSE 4.11838e-06 ENSE00001607254_010 ENSE00001607254 010 14 39587158 39587327 + 45 90 35 A C 39587234 308 77 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTCTTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118029 39118030 39118030 exon 32 0.3555556 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTCTTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 624 656 1 1 1 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03426463 0.02279375 0.9925007 0.9714708 NA 0.02852919 NA FALSE NA 1 3.493 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA TAT A,C 8.236e-06 14:39118030 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 4.477522 0.98914 0.91607 0.732398 0.9914126 0 0.006609197 FALSE 8.20237e-06 ENSE00001607254_011 ENSE00001607254 011 14 39587158 39587327 + 45 90 35 C A 39587237 309 80 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTACCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118032 39118033 39118033 exon 35 0.3888889 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTACCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 2108 429 0.993859 1 0.9969295 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.0281236 0.02279375 0.9925007 0.9714708 NA 0.02545867 NA FALSE NA 0.999 5.319 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA TCC C,A 8.236e-06 14:39118033 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 6.310335 0.9909 0.95685 0.732398 0.9928683 0 0.006609197 FALSE 4.09524e-06 ENSE00001607254_014 ENSE00001607254 014 14 39587158 39587327 + 45 90 35 A C 39587241 312 84 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCCACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118036 39118037 39118037 exon 39 0.4333333 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCCACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 913 98 0.9634609 0.9783647 0.9709128 0.9954187 0.9895827 0.9657354 0.9772063 NA NA -0.002274461 0.001158428 0.9925007 0.9714708 NA -0.0005580169 NA FALSE NA 0.998 0.352 rs142482613 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 rs142482613 1 NA C:0 C:0.0002 CAA A,C 3.295e-05 14:39118037 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 synonymous_variant -0.63648 0.96034 0.48955 0.732398 0.7092399 0 0.006609197 FALSE 8.18237e-05 ENSE00001607254_015 ENSE00001607254 015 14 39587158 39587327 + 45 90 35 A G 39587242 313 85 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAGCACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118037 39118038 39118038 exon 40 0.4444444 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAGCACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 822 1693 0.9906882 0.9999066 0.9952974 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.02495282 0.02270032 0.9925007 0.9714708 NA 0.02382657 NA FALSE NA 1 6.335 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:39118038 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 3.976836 0.98897 0.96376 0.732398 0.995698 0 0.006609197 FALSE 3.68228e-05 ENSE00001607254_016 ENSE00001607254 016 14 39587158 39587327 + 45 90 35 A C 39587242 314 85 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCACCACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118037 39118038 39118038 exon 40 0.4444444 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCACCACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 2186 884 0.9889111 0.9958627 0.9923869 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.02317569 0.01865642 0.9925007 0.9714708 NA 0.02091605 NA FALSE NA 1 6.335 NA NA NA GEMIN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GEMIN2 NA NA NA ENSG00000092208 ENSE00003671537 missense_variant 3.719951 0.98914 0.96634 0.732398 0.9968008 0 0.006609197 FALSE 1.22743e-05 ENSE00001607254_018 ENSE00001607254 018 14 39587158 39587327 + 45 90 35 G C 39587252 316 95 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATCGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118047 39118048 39118048 exon -41 0.5555556 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATCGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 1332 1981 0.9618345 0.9972918 0.9795632 0.9954187 0.9895827 0.9657354 0.9772063 NA NA -0.003900861 0.02008559 0.9925007 0.9714708 NA 0.008092366 NA FALSE NA 1 6.687 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 rs535828171 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGG G,C 8.236e-06 14:39118048 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 6.393927 0.99079 0.97127 0.732398 0.9911444 0 0.006609197 FALSE 4.09829e-06 ENSE00001607254_019 ENSE00001607254 019 14 39587158 39587327 + 45 90 35 A G 39587262 317 105 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAGCAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118057 39118058 39118058 exon -31 0.6666667 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAGCAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant 10 51 0.9248078 0.9474496 0.9361287 652 2158 0.9890074 0.9985227 0.9937651 0.9954187 0.9895827 0.9657354 0.9772063 -0.07061094 -0.04213312 0.02327207 0.02131646 0.9925007 0.9714708 -0.05637203 0.02229426 0.07866629 FALSE FALSE 0.953 -0.198 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA AAC A,G 8.236e-06 14:39118058 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 synonymous_variant 0.315795 0.95812 0.41663 0.732398 0.5273814 0 0.006609197 FALSE 4.10469e-06 ENSE00001607254_020 ENSE00001607254 020 14 39587158 39587327 + 45 90 35 A G 39587271 318 114 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCGCAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118066 39118067 39118067 exon -22 0.7666667 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCGCAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 1958 1942 0.9687499 0.9981364 0.9834431 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.003014507 0.02093012 0.9925007 0.9714708 NA 0.01197231 NA FALSE NA 0.975 0.306 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA CAC A,G 8.236e-06 14:39118067 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 synonymous_variant 0.457582 0.97418 0.68619 0.732398 0.737692 0 0.006609197 FALSE 4.12769e-06 ENSE00001607254_021 ENSE00001607254 021 14 39587158 39587327 + 45 90 35 A T 39587273 319 116 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACTGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118068 39118069 39118069 exon -20 0.7888889 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACTGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 1467 544 0.9337092 0.9963691 0.9650391 0.9954187 0.9895827 0.9657354 0.9772063 NA NA -0.0320262 0.01916286 0.9925007 0.9714708 NA -0.006431674 NA FALSE NA 1 4.071 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA CAG A,T 8.236e-06 14:39118069 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 2.907971 0.98862 0.93005 0.732398 0.9861439 0 0.006609197 FALSE 4.13387e-06 ENSE00001607254_023 ENSE00001607254 023 14 39587158 39587327 + 45 90 35 G C 39587284 321 127 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTCTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118079 39118080 39118080 exon -9 0.9111111 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTCTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 2127 764 0.9986201 0.9997006 0.9991603 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03288469 0.02249431 0.9925007 0.9714708 NA 0.0276895 NA FALSE NA 0.885 1.399 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA TGT G,C 8.236e-06 14:39118080 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 missense_variant 2.247282 0.97474 0.87041 0.732398 0.9542515 0 0.006609197 FALSE 4.18256e-06 ENSE00001607254_024 ENSE00001607254 024 14 39587158 39587327 + 45 90 35 C T 39587287 322 130 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTTGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118082 39118083 39118083 exon -6 0.9444444 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTTGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 178 625 0.9549148 0.9178016 0.9363582 0.9954187 0.9895827 0.9657354 0.9772063 NA NA -0.01082059 -0.05940466 0.9925007 0.9714708 NA -0.03511263 NA FALSE NA 1 2.638 rs146348850 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/5 rs146348850&COSM167406 1 NA T:0.0002 T:0 TCG C,T 1.647e-05 14:39118083 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 stop_gained 13.73062 0.99007 0.90531 0.6512 0.9980232 0 0.006609197 FALSE 4.18256e-06 ENSE00001607254_025 ENSE00001607254 025 14 39587158 39587327 + 45 90 35 G A 39587292 323 135 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAAGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118087 39118088 39118088 exon -1 1 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAAGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 809 3315 1 0.9922678 0.9961339 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03426463 0.0150615 0.9925007 0.9714708 NA 0.02466307 NA FALSE NA 1 3.089 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW GEMIN2 HGNC 10884 ENST00000525430 3/5 1 NA AGG G,A 8.236e-06 14:39118088 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 splice_region_variant 1.31073 0.98371 0.90253 0.6512 0.9237846 0 0.006609197 FALSE NA ENSE00001607254_026 ENSE00001607254 026 14 39587158 39587327 + 45 90 35 C G 39587301 324 144 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTGATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 39118096 39118097 39118097 downstr_intron 9 1.264706 TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTGATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT mutant NA NA NA NA NA 824 627 1 1 1 0.9954187 0.9895827 0.9657354 0.9772063 NA NA 0.03426463 0.02279375 0.9925007 0.9714708 NA 0.02852919 NA FALSE NA 0 0.154 . intron_variant&non_coding_transcript_variant MODIFIER GEMIN2 HGNC 10884 ENST00000525430 3/4 1 NA TCA C,G 8.237e-06 14:39118097 GEMIN2 HGNC Symbol protein_coding 22750 ENSG00000092208 ENSE00003671537 intron_variant 1.096652 0.2639 0.05789 0.088506 0.6537135 0.126322 0.006609197 FALSE NA ENSE00001607254_BRK ENSE00001607254 BRK 14 39587158 39587327 + 45 90 35 A,G; T,T NA NA NA TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTTTCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGCCAAGTGTCATATTTAATCTAATTAAGCCCCTGTT 39117953 39118123 NA NA NA NA NA NA TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTTTCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGCCAAGTGTCATATTTAATCTAATTAAGCCCCTGTT TTTGACACTAATGTTGATCCTAATATTTGTGAACTTGATCTCTAGCTTTCAGGATGCCAACCCGCCCCTGAAGGTTATTCCCCAACACTTCAATGGCAACAGCAACAAGTGGCACAGTTTTCAACTGTTCGACAGGTAAGTGTCATATTTAATCTAATTAAGCCCCTGTT control 193 33 0.01358186 0 0.00679093 150 462 0.03889331 0.07502448 0.05695889 0.9954187 0.9895827 0.9657354 0.9772063 -0.9818369 -0.9895827 -0.9268421 -0.9021818 0.9925007 0.9714708 -0.9857098 -0.9145119 0.07119789 TRUE TRUE NA NA NA NA NA GEMIN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GEMIN2 NA NA NA ENSG00000092208 ENSE00003671537 NA NA NA NA NA NA NA 0.006609197 FALSE NA ENSE00001608196_000 ENSE00001608196 000 9 116984435 116984604 + 68 45 57 NA NA NA NA NA TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC 114222154 114222324 NA NA NA NA NA NA TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC natural 124 116 0.7807181 0.85 0.815359 1304 1413 0.9564451 0.8591969 0.907821 0.7807181 0.85 0.9564451 0.8591969 0 0 0 0 0.815359 0.907821 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00001608196 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001608196_001 ENSE00001608196 001 9 116984435 116984604 + 68 45 57 C T 116984452 1723 18 TGACATGGAGGGAGGGGTCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC 114222154 114222324 114222171 114222172 114222172 upstr_intron -51 -0.7352941 TGACATGGAGGGAGGGGTCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC mutant NA NA NA NA NA 148 38 0.9504099 0.8656922 0.9080511 0.7807181 0.85 0.9564451 0.8591969 NA NA -0.006035246 0.006495384 0.815359 0.907821 NA 0.0002300686 NA FALSE NA 0.002 0.226 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 10/57 1 NA GCC C,T 8.236e-06 9:114222172 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001608196 intron_variant 2.019941 0.23507 0.10567 0.108992 0.9129202 0.147615 0.9999994 TRUE 8.14246e-06 ENSE00001608196_009 ENSE00001608196 009 9 116984435 116984604 + 68 45 57 C A 116984527 1731 93 GCTCCACCCTGAGTCTCCTCAACACCCACCTGCTGCCCCAGGCATCAATGTACTTACAATGAGGCCGGGGACTCCAGTGGGGCCTGGCAGGCCCAGTTCTCCCTGCAGATAGAGAGAGACCAAGGTGGTTACTTGTCCCATCTCCCTCCAGGGCCCCTCCCTCCATGTCA 114222154 114222324 114222246 114222247 114222247 exon -21 0.5555556 TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCACTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC mutant NA NA NA NA NA 206 86 0.9878057 0.982844 0.9853249 0.7807181 0.85 0.9564451 0.8591969 NA NA 0.03136057 0.1236472 0.815359 0.907821 NA 0.07750387 NA FALSE NA 1 0.684 . missense_variant&NMD_transcript_variant MODERATE COL27A1 HGNC 22986 ENST00000494090 11/58 1 deleterious(0.04) possibly_damaging(0.566) NA CCC C,A 2.471e-05 9:114222247 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001608196 missense_variant 3.160054 0.97171 0.82191 0.706298 0.9931081 0 0.9999994 TRUE 2.03115e-05 ENSE00001608196_014 ENSE00001608196 014 9 116984435 116984604 + 68 45 57 G T 116984562 1736 128 TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATTCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC 114222154 114222324 114222281 114222282 114222282 downstr_intron 15 1.267857 TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATTCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC mutant NA NA NA NA NA 83 43 1 0.99911 0.999555 0.7807181 0.85 0.9564451 0.8591969 NA NA 0.04355489 0.1399132 0.815359 0.907821 NA 0.09173402 NA FALSE NA 0 0.153 rs72762630 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 11/57 rs72762630 1 T:0.0016 T:0 T:0.0014 NA T:0 T:0.007 T:0 T:0.0016 T:0.0077 TGC G,T 0.003838 9:114222282 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001608196 intron_variant -0.390568 0.21216 0.08203 0.078051 0.4796871 0.0725607 0.9999994 TRUE 0.00376432 ENSE00001608196_019 ENSE00001608196 019 9 116984435 116984604 + 68 45 57 G A 116984588 1741 154 GCTCCACCCTGAGTCTTCTCAACACCCACCTGCTGCCCCAGGCATCAATGTACTTACAATGAGGCCGGGGACTCCAGGGGGGCCTGGCAGGCCCAGTTCTCCCTGCAGATAGAGAGAGACCAAGGTGGTTACTTGTCCCATCTCCCTCCAGGGCCCCTCCCTCCATGTCA 114222154 114222324 114222307 114222308 114222308 downstr_intron 41 1.732143 TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGAAGACTCAGGGTGGAGC TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC mutant NA NA NA NA NA 115 244 0.9611624 0.9592633 0.9602128 0.7807181 0.85 0.9564451 0.8591969 NA NA 0.004717294 0.1000664 0.815359 0.907821 NA 0.05239185 NA FALSE NA 0 -1.157 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 11/57 1 NA GGA G,A 6.589e-05 9:114222308 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001608196 intron_variant 0.214296 0.16783 0.0149 0.078051 0.5051146 0.0476178 0.9999994 TRUE 6.93515e-05 ENSE00001608196_BRK ENSE00001608196 BRK 9 116984435 116984604 + 68 45 57 A,G; T,T NA NA NA TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCTTGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTCCAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC 114222154 114222324 NA NA NA NA NA NA TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCTTGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTCCAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC TGACATGGAGGGAGGGGCCCTGGAGGGAGATGGGACAAGTAACCACCTTGGTCTCTCTCTATCTGCAGGGAGAACTGGGCCTGCCAGGCCCCCCTGGAGTCCCCGGCCTCATTGTAAGTACATTGATGCCTGGGGCAGCAGGTGGGTGTTGAGGAGACTCAGGGTGGAGC control NA NA NA NA NA 105 66 0 0 0 0.7807181 0.85 0.9564451 0.8591969 NA NA -0.9564451 -0.8591969 0.815359 0.907821 NA -0.907821 NA TRUE NA NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00001608196 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001608767_000 ENSE00001608767 000 10 75602178 75602347 - 38 84 48 NA NA NA NA NA CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC 73842419 73842589 NA NA NA NA NA NA CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC natural 54 77 0.9868849 0.948625 0.9677549 641 1452 0.9863655 0.9989712 0.9926684 0.9868849 0.948625 0.9863655 0.9989712 0 0 0 0 0.9677549 0.9926684 0 0 0 FALSE FALSE NA NA NA NA NA CAMK2G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMK2G NA NA NA ENSG00000148660 ENSE00003676789 NA NA NA NA NA NA NA 0.9945061 TRUE NA ENSE00001608767_BRK ENSE00001608767 BRK 10 75602178 75602347 - 38 84 48 A,G; T,T NA NA NA CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTTTCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGCCGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC 73842419 73842589 NA NA NA NA NA NA CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTTTCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGCCGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC control NA NA NA NA NA 182 921 0 0.03813623 0.01906811 0.9868849 0.948625 0.9863655 0.9989712 NA NA -0.9863655 -0.960835 0.9677549 0.9926684 NA -0.9736002 NA TRUE NA NA NA NA NA NA CAMK2G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMK2G NA NA NA ENSG00000148660 ENSE00003676789 NA NA NA NA NA NA NA 0.9945061 TRUE NA ENSE00001608815_000 ENSE00001608815 000 21 27348225 27348394 - 42 75 53 NA NA NA NA NA GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 NA NA NA NA NA NA TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC natural 28 126 0.9713988 0.9543009 0.9628499 2732 1670 0.9955797 0.8442128 0.9198962 0.9713988 0.9543009 0.9955797 0.8442128 0 0 0 0 0.9628499 0.9198962 0 0 0 FALSE FALSE NA NA NA NA NA APP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APP NA NA NA ENSG00000142192 ENSE00001608815 NA NA NA NA NA NA NA 0.3317106 FALSE NA ENSE00001608815_001 ENSE00001608815 001 21 27348225 27348394 - 42 75 53 T C 27348244 21 151 GCTGGCATGTGATGTTTGGCAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25975930 25975931 25975931 downstr_intron 23 1.560976 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTGCCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 414 191 0.9968771 1 0.9984386 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.001297438 0.1557872 0.9628499 0.9198962 NA 0.07854232 NA FALSE NA 0 -1.744 . intron_variant MODIFIER APP HGNC 620 ENST00000440126 9/16 1 NA GTA T,C 8.237e-06 21:25975931 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 intron_variant 0.033827 0.16169 0.04428 0.262962 0.4131033 0.0455939 0.3317106 FALSE 4.06497e-06 ENSE00001608815_004 ENSE00001608815 004 21 27348225 27348394 - 42 75 53 A G 27348258 24 137 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCGGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25975944 25975945 25975945 downstr_intron 9 1.219512 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCCGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 2084 376 0.9980086 1 0.9990043 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.002428981 0.1557872 0.9628499 0.9198962 NA 0.0791081 NA FALSE NA 0 -0.134 rs114675472 intron_variant MODIFIER APP HGNC 620 ENST00000440126 9/16 rs114675472 1 G:0.0128 G:0.0439 G:0.0086 NA G:0 G:0 G:0 G:0.0406 G:0 CAG A,G 0.003838 21:25975945 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 intron_variant 0.370066 0.16902 0.01338 0.262962 0.6293931 0.0528747 0.3317106 FALSE 0.00305203 ENSE00001608815_005 ENSE00001608815 005 21 27348225 27348394 - 42 75 53 T C 27348264 25 131 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTCACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25975950 25975951 25975951 downstr_intron 3 1.073171 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTGAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 871 651 0.9999527 0.9990591 0.9995059 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.004373078 0.1548463 0.9628499 0.9198962 NA 0.07960971 NA FALSE NA 1 2.184 . splice_region_variant&intron_variant LOW APP HGNC 620 ENST00000440126 9/16 1 NA TTA T,C 8.237e-06 21:25975951 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 splice_region_variant 2.017881 0.98498 0.93972 0.262962 0.97141 0.969799 0.3317106 FALSE 4.06342e-06 ENSE00001608815_006 ENSE00001608815 006 21 27348225 27348394 - 42 75 53 C G 27348275 26 120 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAAGTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25975961 25975962 25975962 exon -9 0.8933333 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCACTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 427 1804 1 0.9969408 0.9984704 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.004420336 0.152728 0.9628499 0.9198962 NA 0.07857419 NA FALSE NA 0.991 4.205 rs141941701 missense_variant MODERATE APP HGNC 620 ENST00000440126 9/17 rs141941701 1 tolerated(1) unknown(0) NA G:0 G:0.0001 ACT C,G 1.647e-05 21:25975962 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 missense_variant 2.215308 0.98944 0.97206 0.706298 0.6834692 0 0.3317106 FALSE 8.12645e-06 ENSE00001608815_007 ENSE00001608815 007 21 27348225 27348394 - 42 75 53 T C 27348280 27 115 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCCTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25975966 25975967 25975967 exon -14 0.8266667 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAGGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 759 166 0.8120707 0.9923097 0.9021902 0.9713988 0.9543009 0.9955797 0.8442128 NA NA -0.183509 0.1480969 0.9628499 0.9198962 NA -0.01770606 NA FALSE NA 1 7.326 rs188433801 missense_variant MODERATE APP HGNC 620 ENST00000440126 9/17 rs188433801 1 deleterious(0.01) unknown(0) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTT T,C 1.647e-05 21:25975967 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 missense_variant 5.124795 0.99051 0.99058 0.706298 0.9959052 0 0.3317106 FALSE 8.12612e-06 ENSE00001608815_008 ENSE00001608815 008 21 27348225 27348394 - 42 75 53 C T 27348287 28 108 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATTAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25975973 25975974 25975974 exon -21 0.7333333 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTAATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 27 444 1 1 1 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.004420336 0.1557872 0.9628499 0.9198962 NA 0.08010377 NA FALSE NA 1 5.426 . missense_variant MODERATE APP HGNC 620 ENST00000440126 9/17 1 deleterious(0.02) unknown(0) NA TCA C,T 8.237e-06 21:25975974 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 missense_variant 7.184883 0.98866 0.93047 0.706298 0.9987524 0 0.3317106 FALSE 4.06349e-06 ENSE00001608815_010 ENSE00001608815 010 21 27348225 27348394 - 42 75 53 T C 27348306 30 89 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTCGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25975992 25975993 25975993 exon 36 0.48 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCGAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 800 215 1 1 1 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.004420336 0.1557872 0.9628499 0.9198962 NA 0.08010377 NA FALSE NA 0.924 -0.002 . synonymous_variant LOW APP HGNC 620 ENST00000440126 9/17 1 NA TTG T,C 8.237e-06 21:25975993 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 synonymous_variant 0.853471 0.97104 0.85566 0.706298 0.6964681 0 0.3317106 FALSE 4.06402e-06 ENSE00001608815_012 ENSE00001608815 012 21 27348225 27348394 - 42 75 53 T C 27348318 32 77 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCCGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25976004 25976005 25976005 exon 24 0.32 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCGGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 443 979 1 0.9999222 0.9999611 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.004420336 0.1557094 0.9628499 0.9198962 NA 0.08006488 NA FALSE NA 0.928 0.011 . synonymous_variant LOW APP HGNC 620 ENST00000440126 9/17 rs556540232 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTG T,C 2.471e-05 21:25976005 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 synonymous_variant 1.156359 0.96548 0.8744 0.706298 0.6701904 0 0.3317106 FALSE 1.62561e-05 ENSE00001608815_014 ENSE00001608815 014 21 27348225 27348394 - 42 75 53 A T 27348347 34 48 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATATATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25976033 25976034 25976034 upstr_intron -6 -0.09433962 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATATATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 1877 2109 0.952448 0.999982 0.976215 0.9713988 0.9543009 0.9955797 0.8442128 NA NA -0.04313171 0.1557692 0.9628499 0.9198962 NA 0.05631873 NA FALSE NA 0.914 2.458 . splice_region_variant&intron_variant LOW APP HGNC 620 ENST00000440126 8/16 1 NA AAA A,T 1.647e-05 21:25976034 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 splice_region_variant 0.411115 0.21231 0.03518 0.062308 0.6464201 0.320612 0.3317106 FALSE 1.62698e-05 ENSE00001608815_015 ENSE00001608815 015 21 27348225 27348394 - 42 75 53 A G 27348348 35 47 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAGTTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25976034 25976035 25976035 upstr_intron -7 -0.1132075 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAACTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 332 1769 0.9925859 1 0.9962929 0.9713988 0.9543009 0.9955797 0.8442128 NA NA -0.002993781 0.1557872 0.9628499 0.9198962 NA 0.07639671 NA FALSE NA 0.924 0.55 . splice_region_variant&intron_variant LOW APP HGNC 620 ENST00000440126 8/16 1 NA AAT A,G 8.237e-06 21:25976035 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 splice_region_variant 0.575856 0.31165 0.03992 0.062308 0.7034891 0.324776 0.3317106 FALSE 4.06752e-06 ENSE00001608815_016 ENSE00001608815 016 21 27348225 27348394 - 42 75 53 A T 27348352 36 43 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTATGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 25976038 25976039 25976039 upstr_intron -11 -0.1886792 TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCATAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 372 554 1 1 1 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.004420336 0.1557872 0.9628499 0.9198962 NA 0.08010377 NA FALSE NA 0.045 3.584 . intron_variant MODIFIER APP HGNC 620 ENST00000440126 8/16 rs201326163 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 AAG A,T 0.0003954 21:25976039 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 intron_variant 0.091057 0.32902 0.6866 0.062308 0.5818036 0.68463 0.3317106 FALSE 0.000349867 ENSE00001608815_017 ENSE00001608815 017 21 27348225 27348394 - 42 75 53 A G 27348372 37 23 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAGTCATCAGTTCATCCTTTGAATA 25975911 25976081 25976058 25976059 25976059 upstr_intron -31 -0.5660377 TATTCAAAGGATGAACTGATGACTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 1343 2633 0.9981693 0.9481357 0.9731525 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.002589622 0.1039229 0.9628499 0.9198962 NA 0.05325627 NA FALSE NA 0.001 1.174 rs3737413 intron_variant MODIFIER APP HGNC 620 ENST00000440126 8/16 rs3737413 1 G:0.3143 G:0.264 G:0.3242 NA G:0.4345 G:0.1889 G:0.3804 G:0.268 G:0.1902 AAT A,G 0.255 21:25976059 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 intron_variant 0.932868 0.22838 0.19213 0.062308 0.8285073 0.0989719 0.3317106 FALSE 0.262114 ENSE00001608815_019 ENSE00001608815 019 21 27348225 27348394 - 42 75 53 A G 27348375 39 20 GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTACCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACCTATAAATTAAGGAAACATTTGAATTTAAAATCGTCAGTTCATCCTTTGAATA 25975911 25976081 25976061 25976062 25976062 upstr_intron -34 -0.6226415 TATTCAAAGGATGAACTGACGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC mutant NA NA NA NA NA 69 392 1 0.9987278 0.9993639 0.9713988 0.9543009 0.9955797 0.8442128 NA NA 0.004420336 0.154515 0.9628499 0.9198962 NA 0.07946769 NA FALSE NA 0 0.252 . intron_variant MODIFIER APP HGNC 620 ENST00000440126 8/16 rs200262429 1 NA CAT A,G 8.238e-06 21:25976062 APP HGNC Symbol protein_coding 290578 ENSG00000142192 ENSE00001608815 intron_variant -0.036065 0.21814 0.1213 0.062308 0.6384636 0.167662 0.3317106 FALSE 2.85586e-05 ENSE00001608815_BRK ENSE00001608815 BRK 21 27348225 27348394 - 42 75 53 A,G; T,T NA NA NA GCTGGCATGTGATGTTTGGTAGGAAATGGGTTCAGGTTTTGGCTGGATAACTGCCTTCTTATCAGCTTTAGGCAAGTTCTTTGCTTGACGTTCTGCCTCTTCCCATTCTCTCATGACAAATAAATTAAGGAAACATTTGAATTTAAAATCATCAGTTCATCCTTTGAATA 25975911 25976081 NA NA NA NA NA NA TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATTTGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGCCAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC TATTCAAAGGATGAACTGATGATTTTAAATTCAAATGTTTCCTTAATTTATAGGTCATGAGAGAATGGGAAGAGGCAGAACGTCAAGCAAAGAACTTGCCTAAAGCTGATAAGAAGGCAGTTATCCAGGTAAAACCTGAACCCATTTCCTACCAAACATCACATGCCAGC control NA NA NA NA NA 327 305 0 0 0 0.9713988 0.9543009 0.9955797 0.8442128 NA NA -0.9955797 -0.8442128 0.9628499 0.9198962 NA -0.9198962 NA TRUE NA NA NA NA NA NA APP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APP NA NA NA ENSG00000142192 ENSE00001608815 NA NA NA NA NA NA NA 0.3317106 FALSE NA ENSE00001609036_000 ENSE00001609036 000 16 15170382 15170551 - 33 93 44 NA NA NA NA NA TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 NA NA NA NA NA NA TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG natural NA NA NA NA NA 669 1521 0.9873663 0.9856251 0.9864957 NA NA 0.9873663 0.9856251 NA NA 0 0 NA 0.9864957 NA 0 NA FALSE NA NA NA NA NA NA RRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RRN3 NA NA NA ENSG00000085721 ENSE00003544685 NA NA NA NA NA NA NA 0.0004745804 FALSE NA ENSE00001609217_000 ENSE00001609217 000 10 90499699 90499868 + 54 72 44 NA NA NA NA NA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA 88739941 88740111 NA NA NA NA NA NA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA natural NA NA NA NA NA 419 1619 0.9125163 0.8208576 0.866687 NA NA 0.9125163 0.8208576 NA NA 0 0 NA 0.866687 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIPK NA NA NA ENSG00000204021 ENSE00002453949 NA NA NA NA NA NA NA 1.190292e-08 FALSE NA ENSE00001609217_001 ENSE00001609217 001 10 90499699 90499868 + 54 72 44 T A 90499717 1872 19 ACTTGTGGTATGATGATAAGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA 88739941 88740111 88739959 88739960 88739960 upstr_intron -36 -0.6481481 ACTTGTGGTATGATGATAAGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA mutant NA NA NA NA NA 160 30 0.9178168 0.95 0.9339084 NA NA 0.9125163 0.8208576 NA NA 0.005300541 0.1291424 NA 0.866687 NA 0.06722147 NA FALSE NA 0 0.177 NA NA NA LIPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:88739960 LIPK HGNC Symbol protein_coding 28242 ENSG00000204021 ENSE00002453949 intron_variant 0.062006 0.17279 0.0296 0.061011 0.712111 0.0975182 1.190292e-08 FALSE 9.78199e-05 ENSE00001609217_003 ENSE00001609217 003 10 90499699 90499868 + 54 72 44 A T 90499719 1874 21 ACTTGTGGTATGATGATATGTTTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA 88739941 88740111 88739961 88739962 88739962 upstr_intron -34 -0.6111111 ACTTGTGGTATGATGATATGTTTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA mutant NA NA NA NA NA 117 198 0.9780598 0.9843826 0.9812212 NA NA 0.9125163 0.8208576 NA NA 0.06554344 0.163525 NA 0.866687 NA 0.1145342 NA FALSE NA 0 -0.042 . intron_variant MODIFIER LIPK HGNC 23444 ENST00000404190 6/8 1 NA GAT A 8.276e-06 10:88739962 LIPK HGNC Symbol protein_coding 28242 ENSG00000204021 ENSE00002453949 intron_variant -0.017751 0.19232 0.03264 0.061011 0.7042241 0.0975182 1.190292e-08 FALSE NA ENSE00001609217_008 ENSE00001609217 008 10 90499699 90499868 + 54 72 44 C T 90499750 1879 52 ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGTAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA 88739941 88740111 88739992 88739993 88739993 upstr_intron -3 -0.03703704 ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGTAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA mutant NA NA NA NA NA 283 783 0.002714155 0.001582293 0.002148224 NA NA 0.9125163 0.8208576 NA NA -0.9098022 -0.8192753 NA 0.866687 NA -0.8645387 NA TRUE NA 0.998 4.622 . splice_region_variant&intron_variant LOW LIPK HGNC 23444 ENST00000404190 6/8 rs554120423 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCA C 1.655e-05 10:88739993 LIPK HGNC Symbol protein_coding 28242 ENSG00000204021 ENSE00002453949 splice_region_variant 2.403982 0.99244 0.77863 0.061011 0.9760721 0.977959 1.190292e-08 FALSE 8.15634e-06 ENSE00001609217_014 ENSE00001609217 014 10 90499699 90499868 + 54 72 44 A G 90499781 1885 83 ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAGTCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA 88739941 88740111 88740023 88740024 88740024 exon 29 0.4027778 ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAGTCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA mutant NA NA NA NA NA 364 253 0.9841821 0.9406431 0.9624126 NA NA 0.9125163 0.8208576 NA NA 0.07166581 0.1197855 NA 0.866687 NA 0.09572563 NA FALSE NA 0 -0.672 . missense_variant MODERATE LIPK HGNC 23444 ENST00000404190 7/9 1 tolerated(0.81) benign(0.016) NA AAT A 3.309e-05 10:88740024 LIPK HGNC Symbol protein_coding 28242 ENSG00000204021 ENSE00002453949 missense_variant -1.380286 0.14387 0.00704 0.487112 0.2913976 0 1.190292e-08 FALSE 1.62723e-05 ENSE00001609217_024 ENSE00001609217 024 10 90499699 90499868 + 54 72 44 G A 90499844 1895 146 ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTACTTGATGCACACATATCTCTGCAA 88739941 88740111 88740086 88740087 88740087 downstr_intron 20 1.465116 ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTACTTGATGCACACATATCTCTGCAA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA mutant NA NA NA NA NA 1247 1593 0.9986724 0.9942321 0.9964523 NA NA 0.9125163 0.8208576 NA NA 0.08615609 0.1733745 NA 0.866687 NA 0.1297653 NA FALSE NA 0 0.628 NA NA NA LIPK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:88740087 LIPK HGNC Symbol protein_coding 28242 ENSG00000204021 ENSE00002453949 intron_variant -0.073376 0.20369 0.08764 0.06567 0.4954187 0.0448725 1.190292e-08 FALSE 8.18652e-06 ENSE00001609217_025 ENSE00001609217 025 10 90499699 90499868 + 54 72 44 T C 90499846 1896 148 ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCCTGATGCACACATATCTCTGCAA 88739941 88740111 88740088 88740089 88740089 downstr_intron 22 1.511628 ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCCTGATGCACACATATCTCTGCAA ACTTGTGGTATGATGATATGATTAGCCTCTAGATGAGAAGTAATCTCTTTGCAGAGTCGCTTGGATGTTTATTTGTCACACAATCCTGCGGGAACATCTGTTCAGAATATGCTGCACTGGGCTCAGGTAAGTGCTTCTTATTCCTGCTTGATGCACACATATCTCTGCAA mutant 54 109 0.8397823 0.85 0.8448912 NA NA NA NA NA NA NA 0.9125163 0.8208576 NA NA NA NA NA 0.866687 NA NA NA NA NA 0 -3.495 . intron_variant MODIFIER LIPK HGNC 23444 ENST00000404190 7/8 1 NA CTT T 8.27e-06 10:88740089 LIPK HGNC Symbol protein_coding 28242 ENSG00000204021 ENSE00002453949 intron_variant 0.095405 0.0818 0.00046 0.06567 0.6934119 0.0448725 1.190292e-08 FALSE 4.09262e-06 ENSE00001610821_000 ENSE00001610821 000 3 33415286 33415455 + 53 75 42 NA NA NA NA NA CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG 33373793 33373963 NA NA NA NA NA NA CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG natural 38 48 0.9943281 0.9710645 0.9826963 2516 1979 0.9935356 0.9907146 0.9921251 0.9943281 0.9710645 0.9935356 0.9907146 0 0 0 0 0.9826963 0.9921251 0 0 0 FALSE FALSE NA NA NA NA NA FBXL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXL2 NA NA NA ENSG00000153558 ENSE00003545230 NA NA NA NA NA NA NA 0.2164791 FALSE NA ENSE00001610821_002 ENSE00001610821 002 3 33415286 33415455 + 53 75 42 C G 33415354 434 69 CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTGTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG 33373793 33373963 33373861 33373862 33373862 exon 16 0.2133333 CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTGTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG mutant NA NA NA NA NA 54 128 1 1 1 0.9943281 0.9710645 0.9935356 0.9907146 NA NA 0.006464427 0.009285358 0.9826963 0.9921251 NA 0.007874893 NA FALSE NA 0.69 0.95 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 7/13 1 NA TCT C,G 8.236e-06 3:33373862 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003545230 missense_variant 4.194377 0.95582 0.9328 0.67177 0.9820745 0 0.2164791 FALSE 8.12249e-06 ENSE00001610821_006 ENSE00001610821 006 3 33415286 33415455 + 53 75 42 G A 33415404 438 119 CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAATCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG 33373793 33373963 33373911 33373912 33373912 exon -10 0.88 CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAATCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG mutant NA NA NA NA NA 25 157 1 0.9929108 0.9964554 0.9943281 0.9710645 0.9935356 0.9907146 NA NA 0.006464427 0.002196183 0.9826963 0.9921251 NA 0.004330305 NA FALSE NA 1 4.692 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 7/13 1 NA AGT G,A 8.236e-06 3:33373912 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003545230 synonymous_variant 0.452728 0.95421 0.92966 0.615465 0.6909016 0 0.2164791 FALSE 4.06154e-06 ENSE00001610821_007 ENSE00001610821 007 3 33415286 33415455 + 53 75 42 G C 33415414 439 129 CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCACTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG 33373793 33373963 33373921 33373922 33373922 downstr_intron 1 1.02439 CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCACTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG mutant NA NA NA NA NA 276 113 0 0.002844303 0.001422152 0.9943281 0.9710645 0.9935356 0.9907146 NA NA -0.9935356 -0.9878703 0.9826963 0.9921251 NA -0.990703 NA TRUE NA 1 9.727 . splice_donor_variant&NMD_transcript_variant HIGH FBXL2 HGNC 13598 ENST00000432809 7/12 1 NA AGT G,C 8.236e-06 3:33373922 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003545230 splice_donor_variant 5.144944 0.97656 0.98732 0.099367 0.9939324 0.984634 0.2164791 FALSE NA ENSE00001610821_008 ENSE00001610821 008 3 33415286 33415455 + 53 75 42 C T 33415422 440 137 CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGTGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG 33373793 33373963 33373929 33373930 33373930 downstr_intron 9 1.219512 CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGTGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG mutant NA NA NA NA NA 264 42 1 0.9591725 0.9795863 0.9943281 0.9710645 0.9935356 0.9907146 NA NA 0.006464427 -0.03154209 0.9826963 0.9921251 NA -0.01253883 NA FALSE NA 0 -0.022 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 7/12 1 NA GCG C,T 3.295e-05 3:33373930 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003545230 intron_variant 0.11348 0.25698 0.03809 0.062308 0.4656282 0.157815 0.2164791 FALSE 3.25031e-05 ENSE00001610821_BRK ENSE00001610821 BRK 3 33415286 33415455 + 53 75 42 A,G; T,T NA NA NA CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCTTTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCACCAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG 33373793 33373963 NA NA NA NA NA NA CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCTTTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCACCAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG CACTGTTCCCTCACCTGGATTCCAGCTGTCTTTTGTTTTCTCTGTCCACTCAGTTAGAAGATGAAGCTCTGAAACACATTCAGAATTACTGCCATGAGCTTGTGAGCCTCAACTTGCAGTCCTGCTCAGTAAGTAGCGTGCCTTTCCTGAACACTGTTTGCTCTATCTTG control NA NA NA NA NA 337 70 0.02826079 0 0.01413039 0.9943281 0.9710645 0.9935356 0.9907146 NA NA -0.9652748 -0.9907146 0.9826963 0.9921251 NA -0.9779947 NA TRUE NA NA NA NA NA NA FBXL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXL2 NA NA NA ENSG00000153558 ENSE00003545230 NA NA NA NA NA NA NA 0.2164791 FALSE NA ENSE00001612920_000 ENSE00001612920 000 11 60617360 60617529 + 53 75 42 NA NA NA NA NA ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 NA NA NA NA NA NA ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG natural NA NA NA NA NA 1331 925 0.9870172 0.9946678 0.9908425 NA NA 0.9870172 0.9946678 NA NA 0 0 NA 0.9908425 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003550038 NA NA NA NA NA NA NA NA NA NA ENSE00001612920_016 ENSE00001612920 016 11 60617360 60617529 + 53 75 42 C T 60617439 1350 80 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAATCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60849965 60849966 60849966 exon 27 0.36 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAATCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 502 732 0.9948485 0.9913048 0.9930766 NA NA 0.9870172 0.9946678 NA NA 0.007831327 -0.003363028 NA 0.9908425 NA 0.00223415 NA FALSE NA 1 3.585 NA NA NA CCDC86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC86 NA NA NA ENSG00000110104 ENSE00003550038 synonymous_variant 1.633872 0.98536 0.96033 0.706548 0.8963412 0 0.001477357 FALSE 4.06501e-06 ENSE00001612920_BRK ENSE00001612920 BRK 11 60617360 60617529 + 53 75 42 A,G; T,T NA NA NA ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCTTGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGCCGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 NA NA NA NA NA NA ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCTTGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGCCGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG control 250 122 0.01049878 0.005339784 0.007919282 NA NA NA NA NA NA NA 0.9870172 0.9946678 NA NA NA NA NA 0.9908425 NA NA NA NA NA NA NA NA NA NA CCDC86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC86 NA NA NA ENSG00000110104 ENSE00003550038 NA NA NA NA NA NA NA 0.001477357 FALSE NA ENSE00001612942_000 ENSE00001612942 000 7 7528975 7529144 - 45 69 56 NA NA NA NA NA ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 NA NA NA NA NA NA ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT natural 27 21 0.9939411 0.9988198 0.9963805 4749 3006 0.9751566 0.9413876 0.9582721 0.9939411 0.9988198 0.9751566 0.9413876 0 0 0 0 0.9963805 0.9582721 0 0 0 FALSE FALSE NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003600737 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001612942_001 ENSE00001612942 001 7 7528975 7529144 - 45 69 56 T G 7528989 586 156 ACTATATTTGTCCTGTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489357 7489358 7489358 downstr_intron 31 1.704545 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAACAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 274 160 0.9910123 1 0.9955062 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.0158557 0.05861241 0.9963805 0.9582721 NA 0.03723406 NA FALSE NA 0.003 0.564 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 13/34 1 NA TTT T,G 5.795e-05 7:7489358 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 intron_variant 0.072532 0.15855 0.09635 0.053691 0.6429613 0.0455939 1.893035e-20 FALSE 4.47649e-05 ENSE00001612942_002 ENSE00001612942 002 7 7528975 7529144 - 45 69 56 T G 7529013 587 132 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCGACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489381 7489382 7489382 downstr_intron 7 1.159091 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTCGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 689 4077 0.997037 0.999682 0.9983595 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02188043 0.05829441 0.9963805 0.9582721 NA 0.04008742 NA FALSE NA 0.011 -0.179 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7489382 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 splice_region_variant 1.465334 0.8952 0.04647 0.053691 0.8621486 0.463039 1.893035e-20 FALSE 4.06706e-06 ENSE00001612942_005 ENSE00001612942 005 7 7528975 7529144 - 45 69 56 G A 7529022 590 123 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGACTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489390 7489391 7489391 exon -3 0.9710145 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGTCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1948 2378 0.7555318 0.9509819 0.8532568 0.9939411 0.9988198 0.9751566 0.9413876 NA NA -0.2196248 0.009594277 0.9963805 0.9582721 NA -0.1050153 NA FALSE NA 1 1.346 . missense_variant&splice_region_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 1 deleterious(0.05) benign(0.108) NA GGC G,A 8.279e-06 7:7489391 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant 3.468801 0.95923 0.73435 0.487112 0.9924386 0 1.893035e-20 FALSE 4.06686e-06 ENSE00001612942_006 ENSE00001612942 006 7 7528975 7529144 - 45 69 56 C T 7529023 591 122 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGTTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489391 7489392 7489392 exon -4 0.9565217 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAACCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 412 1436 1 0.9969573 0.9984786 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02484339 0.05556971 0.9963805 0.9582721 NA 0.04020655 NA FALSE NA 1 0.912 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 13/35 1 NA GCT C,T 3.312e-05 7:7489392 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 synonymous_variant 1.265383 0.95605 0.63708 0.487112 0.5551244 0 1.893035e-20 FALSE 2.84657e-05 ENSE00001612942_007 ENSE00001612942 007 7 7528975 7529144 - 45 69 56 C T 7529028 592 117 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCTAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489396 7489397 7489397 exon -9 0.884058 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTAGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1580 1911 0.9989535 0.9979312 0.9984423 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02379685 0.05654362 0.9963805 0.9582721 NA 0.04017024 NA FALSE NA 0.982 3.66 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 rs564068207 1 deleterious(0) probably_damaging(0.999) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCA C,T 8.279e-06 7:7489397 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant 6.742557 0.97988 0.91119 0.487112 0.9991666 0 1.893035e-20 FALSE 8.13306e-06 ENSE00001612942_009 ENSE00001612942 009 7 7528975 7529144 - 45 69 56 C G 7529037 594 108 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACGAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489405 7489406 7489406 exon -18 0.7536232 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTCGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1664 952 0.9984565 0.9988728 0.9986646 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02329986 0.05748518 0.9963805 0.9582721 NA 0.04039252 NA FALSE NA 1 2.244 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 rs200547651 1 deleterious(0) probably_damaging(0.999) G:0.0008 G:0 G:0.0014 NA G:0 G:0.003 G:0 G:0.0005 G:0.0032 CCA C,G 0.001432 7:7489406 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant 6.205655 0.96302 0.78282 0.487112 0.999108 0 1.893035e-20 FALSE 0.00132162 ENSE00001612942_010 ENSE00001612942 010 7 7528975 7529144 - 45 69 56 A G 7529045 595 100 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAGTGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489413 7489414 7489414 exon -26 0.6376812 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCACTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1121 707 0.9978622 0.9995523 0.9987073 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02270563 0.05816476 0.9963805 0.9582721 NA 0.04043519 NA FALSE NA 0 0.287 rs113773733 missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 rs113773733 1 tolerated(0.34) benign(0.001) NA AAT A,G 8.278e-06 7:7489414 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant -0.136798 0.15129 0.01919 0.487112 0.6399197 0 1.893035e-20 FALSE 1.21982e-05 ENSE00001612942_011 ENSE00001612942 011 7 7528975 7529144 - 45 69 56 G C 7529047 596 98 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATCGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489415 7489416 7489416 exon -28 0.6086957 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCGATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 165 1482 0.911593 0.9990147 0.9553038 0.9939411 0.9988198 0.9751566 0.9413876 NA NA -0.06356362 0.05762707 0.9963805 0.9582721 NA -0.002968275 NA FALSE NA 0 -4.363 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 13/35 1 NA TGG G,C 8.278e-06 7:7489416 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 synonymous_variant -0.102265 0.05237 0.00348 0.487112 0.4894216 0 1.893035e-20 FALSE 4.06587e-06 ENSE00001612942_013 ENSE00001612942 013 7 7528975 7529144 - 45 69 56 G A 7529049 598 96 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGATCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489417 7489418 7489418 exon -30 0.5797101 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGATCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 998 888 1 1 1 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02484339 0.05861241 0.9963805 0.9582721 NA 0.0417279 NA FALSE NA 1 2.974 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 1 deleterious(0) benign(0.219) NA GGT G,A 8.278e-06 7:7489418 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant 2.749333 0.96465 0.83839 0.487112 0.9960261 0 1.893035e-20 FALSE 4.06607e-06 ENSE00001612942_014 ENSE00001612942 014 7 7528975 7529144 - 45 69 56 G C 7529055 599 90 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGCAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489423 7489424 7489424 exon 34 0.4927536 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTGCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 62 37 1 1 1 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02484339 0.05861241 0.9963805 0.9582721 NA 0.0417279 NA FALSE NA 1 4.444 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 rs549830532 1 tolerated(0.09) benign(0.345) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 GGA G,C 8.278e-06 7:7489424 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant 2.192417 0.97979 0.93197 0.487112 0.9952413 0 1.893035e-20 FALSE 1.22005e-05 ENSE00001612942_015 ENSE00001612942 015 7 7528975 7529144 - 45 69 56 C T 7529062 600 83 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCTGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489430 7489431 7489431 exon 27 0.3913043 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCAGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1382 621 0.9986823 0.8794545 0.9390684 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02352574 -0.06193305 0.9963805 0.9582721 NA -0.01920366 NA FALSE NA 0.89 0.478 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 13/35 rs199637955&COSM3882415 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 8.279e-06 7:7489431 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 synonymous_variant 1.743643 0.10853 0.02139 0.487112 0.4615786 0 1.893035e-20 FALSE 1.2205e-05 ENSE00001612942_016 ENSE00001612942 016 7 7528975 7529144 - 45 69 56 G A 7529063 601 82 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCAGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489431 7489432 7489432 exon 26 0.3768116 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACTGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 430 198 0.999039 0.9927423 0.9958906 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02388239 0.05135468 0.9963805 0.9582721 NA 0.03761853 NA FALSE NA 0.854 -0.172 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 1 tolerated(0.52) benign(0) NA CGG G,A 8.279e-05 7:7489432 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant -0.390894 0.09767 0.1331 0.487112 0.6170732 0 1.893035e-20 FALSE 6.51058e-05 ENSE00001612942_017 ENSE00001612942 017 7 7528975 7529144 - 45 69 56 T C 7529075 602 70 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTCGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489443 7489444 7489444 exon 14 0.2028986 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCGAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 192 1357 0.9961467 0.9945729 0.9953598 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02099012 0.05318527 0.9963805 0.9582721 NA 0.03708769 NA FALSE NA 0.999 0.562 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 rs368687427 1 tolerated(0.43) benign(0.352) NA C:0.0003 C:0 TTG T,C 8.28e-06 7:7489444 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant 1.881725 0.96386 0.64454 0.487112 0.9975524 0 1.893035e-20 FALSE NA ENSE00001612942_018 ENSE00001612942 018 7 7528975 7529144 - 45 69 56 C A 7529078 603 67 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGACTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489446 7489447 7489447 exon 11 0.1594203 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGTCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 522 554 1 0.9988564 0.9994282 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02484339 0.0574688 0.9963805 0.9582721 NA 0.0411561 NA FALSE NA 1 2.267 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 13/35 rs535605980 1 deleterious(0) probably_damaging(1) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GCC C,A 8.28e-06 7:7489447 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 missense_variant 6.813602 0.97989 0.88272 0.487112 0.9969528 0 1.893035e-20 FALSE 1.22202e-05 ENSE00001612942_019 ENSE00001612942 019 7 7528975 7529144 - 45 69 56 T G 7529086 604 59 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCGCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489454 7489455 7489455 exon 3 0.04347826 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGCGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 550 681 0.9946632 1 0.9973316 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.01950663 0.05861241 0.9963805 0.9582721 NA 0.03905952 NA FALSE NA 0.999 0.159 . splice_region_variant&synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 13/35 1 NA CTC T,G 3.312e-05 7:7489455 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 splice_region_variant 1.565341 0.95396 0.70842 0.487112 0.8718589 0 1.893035e-20 FALSE 2.03844e-05 ENSE00001612942_020 ENSE00001612942 020 7 7528975 7529144 - 45 69 56 C T 7529089 605 56 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCTTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489457 7489458 7489458 upstr_intron -1 0 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAAGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 32 17 0.9951761 1 0.997588 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02001948 0.05861241 0.9963805 0.9582721 NA 0.03931594 NA FALSE NA 1 3.491 . splice_acceptor_variant HIGH COL28A1 HGNC 22442 ENST00000399429 12/34 COSM3640596 1 NA HC CCT C,T 8.28e-06 7:7489458 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 splice_acceptor_variant 5.007 0.97846 0.95145 0.053691 0.9942512 0.976311 1.893035e-20 FALSE 4.0792e-06 ENSE00001612942_022 ENSE00001612942 022 7 7528975 7529144 - 45 69 56 A G 7529098 607 47 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAGGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489466 7489467 7489467 upstr_intron -10 -0.1607143 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCCTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1023 116 0.9972926 0.9830845 0.9901885 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.022136 0.04169688 0.9963805 0.9582721 NA 0.03191644 NA FALSE NA 0.976 4.11 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 12/34 1 NA AAG A,G 8.281e-06 7:7489467 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 intron_variant 0.645981 0.35089 0.89747 0.053691 0.7613765 0.881806 1.893035e-20 FALSE 8.18652e-06 ENSE00001612942_023 ENSE00001612942 023 7 7528975 7529144 - 45 69 56 G T 7529099 608 46 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAATAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489467 7489468 7489468 upstr_intron -11 -0.1785714 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTATTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1047 175 0.9958505 1 0.9979253 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02069392 0.05861241 0.9963805 0.9582721 NA 0.03965317 NA FALSE NA 0.976 0.43 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 12/34 1 NA AGA G,T 1.656e-05 7:7489468 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 intron_variant -0.102975 0.18881 0.16431 0.053691 0.5798746 0.0547539 1.893035e-20 FALSE 8.18773e-06 ENSE00001612942_024 ENSE00001612942 024 7 7528975 7529144 - 45 69 56 T C 7529106 609 39 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAACAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489474 7489475 7489475 upstr_intron -18 -0.3035714 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTGTTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1582 665 0.9963586 0.9997621 0.9980603 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.02120195 0.05837452 0.9963805 0.9582721 NA 0.03978824 NA FALSE NA 0 -0.079 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 12/34 rs373039949 1 NA ATA T,C 0.0001988 7:7489475 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 intron_variant -0.198782 0.1789 0.0298 0.053691 0.621827 0.0547157 1.893035e-20 FALSE 0.000180386 ENSE00001612942_025 ENSE00001612942 025 7 7528975 7529144 - 45 69 56 A C 7529109 610 36 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGCATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489477 7489478 7489478 upstr_intron -21 -0.3571429 ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATGCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 1114 31 0.9615885 1 0.9807942 0.9939411 0.9988198 0.9751566 0.9413876 NA NA -0.01356813 0.05861241 0.9963805 0.9582721 NA 0.02252214 NA FALSE NA 0.089 3.405 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 12/34 rs547299005 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GAA A,C 1.656e-05 7:7489478 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 intron_variant 0.132925 0.35164 0.45515 0.053691 0.7150034 0.0547157 1.893035e-20 FALSE 1.23645e-05 ENSE00001612942_026 ENSE00001612942 026 7 7528975 7529144 - 45 69 56 G T 7529116 611 29 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAATCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 7489484 7489485 7489485 upstr_intron -28 -0.4821429 ATGTTTATTCTTTATTTAAAATCTCAAGATTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 115 514 0.9857549 0.9960546 0.9909047 0.9939411 0.9988198 0.9751566 0.9413876 NA NA 0.01059828 0.05466698 0.9963805 0.9582721 NA 0.03263263 NA FALSE NA 0 -0.775 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 12/34 1 NA AGC G,T 8.283e-06 7:7489485 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 intron_variant -0.30441 0.14247 0.03161 0.053691 0.7671082 0.0547157 1.893035e-20 FALSE NA ENSE00001612942_027 ENSE00001612942 027 7 7528975 7529144 - 45 69 56 A T 7529130 612 15 ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTACTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCCTAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAATTAAAGAATAAACAT 7489343 7489513 7489498 7489499 7489499 upstr_intron -42 -0.7321429 ATGTTTATTCTTTAATTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT mutant NA NA NA NA NA 839 1324 0.9028814 0.9490911 0.9259863 0.9939411 0.9988198 0.9751566 0.9413876 NA NA -0.07227519 0.007703523 0.9963805 0.9582721 NA -0.03228583 NA FALSE NA 0.703 1.339 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 12/34 1 NA AAT A,T 8.287e-06 7:7489499 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003600737 intron_variant 0.226925 0.22818 0.24762 0.053691 0.831656 0.0639214 1.893035e-20 FALSE 4.22872e-06 ENSE00001612942_BRK ENSE00001612942 BRK 7 7528975 7529144 - 45 69 56 A,G; T,T NA NA NA ACTATATTTGTCCTTTTCATTCCATCTAGAATTTTTGCTACTTGGTGGCTGTCCAGGCTCACCAACTCCAATGGGTCCTGGAGCTCCCGGTCTTCCTTCTTGGCCTCTTTCTCCAAAAGAGAAAGAAATAATAGAATGAAAGCTTGAGATTTTAAATAAAGAATAAACAT 7489343 7489513 NA NA NA NA NA NA ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTTTGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCACCAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT ATGTTTATTCTTTATTTAAAATCTCAAGCTTTCATTCTATTATTTCTTTCTCTTAGGGAGAAAGAGGCCAAGAAGGAAGACCGGGAGCTCCAGGACCCATTGGAGTTGGTGAGCCTGGACAGCCAGTAAGTAGCAAAAATTCTAGATGGAATGAAAAGGACAAATATAGT control 154 44 0 0 0 360 979 0 0.0003267567 0.0001633783 0.9939411 0.9988198 0.9751566 0.9413876 -0.9939411 -0.9988198 -0.9751566 -0.9410608 0.9963805 0.9582721 -0.9963805 -0.9581087 0.03827175 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003600737 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001614247_000 ENSE00001614247 000 8 6357322 6357491 + 51 78 41 NA NA NA NA NA CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 NA NA NA NA NA NA CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT natural 33 28 0.9978491 0.9966222 0.9972356 2668 4050 0.9776981 0.7984589 0.8880785 0.9978491 0.9966222 0.9776981 0.7984589 0 0 0 0 0.9972356 0.8880785 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003625574 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001614247_031 ENSE00001614247 031 8 6357322 6357491 + 51 78 41 G A 6357445 67 124 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAACTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499923 6499924 6499924 exon -6 0.9358974 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAACTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 1173 1500 0.9992152 0.9991556 0.9991854 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02151718 0.2006967 0.9972356 0.8880785 NA 0.1111069 NA FALSE NA 1 8.891 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003625574 missense_variant 7.316148 0.99464 0.98982 0.732398 0.9991302 0 0.994933 TRUE 4.06151e-06 ENSE00001614247_035 ENSE00001614247 035 8 6357322 6357491 + 51 78 41 C G 6357450 71 129 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCGGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499928 6499929 6499929 exon -1 1 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCGGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 317 147 0.9881894 1 0.9940947 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01049129 0.2015411 0.9972356 0.8880785 NA 0.1060162 NA FALSE NA 0.984 0.151 NA NA NA MCPH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MCPH1 NA NA NA ENSG00000147316 ENSE00003625574 splice_region_variant 1.135493 0.70463 0.41309 0.732398 0.7873258 0 5.16507e-18 FALSE 8.12321e-06 ENSE00001614247_BRK ENSE00001614247 BRK 8 6357322 6357491 + 51 78 41 A,G; T,T NA NA NA CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCTTGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCCCAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 NA NA NA NA NA NA CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCTTGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCCCAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT control 157 122 0 0 0 1191 180 0.0002518472 0.08334053 0.04179619 0.9978491 0.9966222 0.9776981 0.7984589 -0.9978491 -0.9966222 -0.9774462 -0.7151184 0.9972356 0.8880785 -0.9972356 -0.8462823 0.1509533 TRUE TRUE NA NA NA NA NA MCPH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MCPH1 NA NA NA ENSG00000147316 ENSE00003625574 NA NA NA NA NA NA NA 5.16507e-18 FALSE NA ENSE00001614618_000 ENSE00001614618 000 10 120921810 120921979 - 42 75 53 NA NA NA NA NA TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 NA NA NA NA NA NA TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG natural 429 656 0.8487213 0.8449254 0.8468233 2219 1408 0.718807 0.8092808 0.7640439 0.8487213 0.8449254 0.718807 0.8092808 0 0 0 0 0.8468233 0.7640439 0 0 0 FALSE FALSE NA NA NA NA NA SFXN4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN4 NA NA NA ENSG00000183605 ENSE00003611443 NA NA NA NA NA NA NA 0.0001483205 FALSE NA ENSE00001614618_001 ENSE00001614618 001 10 120921810 120921979 - 42 75 53 A G 120921825 2718 155 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCCGGTTGCCCTCAGATG 119162297 119162467 119162312 119162313 119162313 downstr_intron 27 1.658537 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCCGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant NA NA NA NA NA 29 1444 0.8684699 0.8001751 0.8343225 0.8487213 0.8449254 0.718807 0.8092808 NA NA 0.1496628 -0.009105725 0.8468233 0.7640439 NA 0.07027855 NA FALSE NA 0 -1.136 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/7 1 NA CAG A,G 8.236e-06 10:119162313 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant 0.101099 0.17642 0.02176 0.256391 0.358821 0.0704226 0.0001483205 FALSE 4.0701e-06 ENSE00001614618_002 ENSE00001614618 002 10 120921810 120921979 - 42 75 53 G A 120921830 2719 150 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTTTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162317 119162318 119162318 downstr_intron 22 1.536585 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTTTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 131 136 0.8415861 0.85 0.845793 149 137 0.8971839 0.9038992 0.9005416 0.8487213 0.8449254 0.718807 0.8092808 -0.007135205 0.005074572 0.1783769 0.0946184 0.8468233 0.7640439 -0.001030317 0.1364976 0.1375279 FALSE FALSE 0 -0.241 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/7 rs377492354 1 NA A:0 A:0.0001 AGA G,A 8.236e-06 10:119162318 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant -0.05717 0.16022 0.03614 0.256391 0.511388 0.0892414 0.0001483205 FALSE NA ENSE00001614618_003 ENSE00001614618 003 10 120921810 120921979 - 42 75 53 C A 120921833 2720 147 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCATGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162320 119162321 119162321 downstr_intron 19 1.463415 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCATGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 12 21 0.85 0.85 0.85 358 103 0.904728 0.9151881 0.9099581 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 0.185921 0.1059073 0.8468233 0.7640439 0.003176656 0.1459141 0.1427375 FALSE FALSE 0 -0.65 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/7 1 NA CCT C,A 8.236e-06 10:119162321 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant 0.084468 0.18588 0.03215 0.256391 0.2627256 0.113141 0.0001483205 FALSE 4.06739e-06 ENSE00001614618_004 ENSE00001614618 004 10 120921810 120921979 - 42 75 53 C T 120921840 2721 140 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACATGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162327 119162328 119162328 downstr_intron 12 1.292683 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACATGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant NA NA NA NA NA 444 1708 0.02041476 0.0003746177 0.01039469 0.8487213 0.8449254 0.718807 0.8092808 NA NA -0.6983923 -0.8089062 0.8468233 0.7640439 NA -0.7536493 NA TRUE NA 0 -1.217 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/7 rs372212559 1 NA T:0.0002 T:0 ACG C,T 8.236e-06 10:119162328 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant -0.071275 0.18027 0.0327 0.256391 0.4646997 0.113141 0.0001483205 FALSE 4.06464e-06 ENSE00001614618_005 ENSE00001614618 005 10 120921810 120921979 - 42 75 53 G A 120921841 2722 139 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCATGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162328 119162329 119162329 downstr_intron 11 1.268293 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCATGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 92 115 0.8753495 0.85 0.8626747 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 0.02662821 0.005074572 NA NA 0.8468233 0.7640439 0.01585139 NA NA NA FALSE 0 -1.195 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/7 1 NA CGT G,A 2.471e-05 10:119162329 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant -0.286623 0.11714 0.00373 0.256391 0.5523557 0.113141 0.0001483205 FALSE 2.43857e-05 ENSE00001614618_006 ENSE00001614618 006 10 120921810 120921979 - 42 75 53 C A 120921852 2723 128 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGTGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162339 119162340 119162340 exon -1 1 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGTGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 126 111 0 0 0 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 -0.8487213 -0.8449254 NA NA 0.8468233 0.7640439 -0.8468233 NA NA NA TRUE 0.836 1.505 . splice_region_variant&5_prime_UTR_variant LOW SFXN4 HGNC 16088 ENST00000419372 3/8 1 NA CCC C,A 8.236e-06 10:119162340 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 missense_variant 3.475795 0.63218 0.47641 0.706298 0.9768796 0 0.0001483205 FALSE 1.62537e-05 ENSE00001614618_007 ENSE00001614618 007 10 120921810 120921979 - 42 75 53 G C 120921858 2724 122 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGAGCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162345 119162346 119162346 exon -7 0.92 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGAGCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 40 27 0.4753506 0.4804986 0.4779246 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 -0.3733707 -0.3644269 NA NA 0.8468233 0.7640439 -0.3688988 NA NA NA FALSE 0.146 2.067 rs148864064 5_prime_UTR_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/8 rs148864064 1 NA C:0.0002 C:0 GGT G,C 8.236e-06 10:119162346 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 missense_variant 3.51034 0.30442 0.20431 0.706298 0.990185 0 0.0001483205 FALSE 4.0622e-06 ENSE00001614618_008 ENSE00001614618 008 10 120921810 120921979 - 42 75 53 C T 120921861 2725 119 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCAGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162348 119162349 119162349 exon -10 0.88 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCAGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 198 18 0.006638754 0.0366001 0.02161943 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 -0.8420825 -0.8083253 NA NA 0.8468233 0.7640439 -0.8252039 NA NA NA TRUE 0.002 -0.132 . 5_prime_UTR_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/8 1 NA CCG C,T 2.471e-05 10:119162349 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 synonymous_variant 1.47755 0.18643 0.04587 0.706298 0.519143 0 0.0001483205 FALSE 2.8437e-05 ENSE00001614618_009 ENSE00001614618 009 10 120921810 120921979 - 42 75 53 G A 120921862 2726 118 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGTGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162349 119162350 119162350 exon -11 0.8666667 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGTGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant NA NA NA NA NA 145 649 0.7865501 0.8020301 0.7942901 0.8487213 0.8449254 0.718807 0.8092808 NA NA 0.06774306 -0.007250703 0.8468233 0.7640439 NA 0.03024618 NA FALSE NA 0.001 0.185 . 5_prime_UTR_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/8 1 NA CGC G,A 2.471e-05 10:119162350 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 missense_variant 0.802869 0.19621 0.04079 0.706298 0.9410009 0 0.0001483205 FALSE 2.4378e-05 ENSE00001614618_010 ENSE00001614618 010 10 120921810 120921979 - 42 75 53 C T 120921864 2727 116 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCAGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162351 119162352 119162352 exon -13 0.84 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCAGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 24 12 0.85 0.85 0.85 1534 144 0.8119883 0.8 0.8059941 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 0.09318122 -0.009280847 0.8468233 0.7640439 0.003176656 0.04195019 0.03877353 FALSE FALSE 0.002 1.497 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:119162352 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 synonymous_variant 1.513742 0.21629 0.0746 0.706298 0.4703339 0 0.0001483205 FALSE 0.000186889 ENSE00001614618_011 ENSE00001614618 011 10 120921810 120921979 - 42 75 53 C A 120921864 2728 116 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCTGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162351 119162352 119162352 exon -13 0.84 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCTGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 21 18 0.85 0.85 0.85 138 20 0.949429 0.8364364 0.8929327 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 0.2306219 0.02715552 0.8468233 0.7640439 0.003176656 0.1288887 0.1257121 FALSE FALSE 0.002 1.497 NA NA NA SFXN4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN4 NA NA NA ENSG00000183605 ENSE00003611443 synonymous_variant 1.674211 0.23008 0.14011 0.706298 0.4551631 0 0.0001483205 FALSE 4.06279e-06 ENSE00001614618_012 ENSE00001614618 012 10 120921810 120921979 - 42 75 53 G A 120921865 2729 115 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTTGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162352 119162353 119162353 exon -14 0.8266667 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTTGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 53 72 0.85 0.85 0.85 1102 316 0.8027746 0.8631567 0.8329657 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 0.0839676 0.05387588 0.8468233 0.7640439 0.003176656 0.06892174 0.06574508 FALSE FALSE 0 0.106 . 5_prime_UTR_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/8 COSM3806557 1 NA CGA G,A 4.118e-05 10:119162353 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 missense_variant -0.206787 0.15429 0.00294 0.706298 0.4870639 0 0.0001483205 FALSE 3.65565e-05 ENSE00001614618_013 ENSE00001614618 013 10 120921810 120921979 - 42 75 53 C A 120921874 2730 106 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCATCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162361 119162362 119162362 exon -23 0.7066667 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCATCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 21 146 0 0.02244778 0.01122389 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 -0.8487213 -0.8224777 NA NA 0.8468233 0.7640439 -0.8355995 NA NA NA TRUE 0 -1.227 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:119162362 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 missense_variant -0.708379 0.14356 0.01814 0.706298 0.3520921 0 0.0001483205 FALSE 8.12249e-06 ENSE00001614618_014 ENSE00001614618 014 10 120921810 120921979 - 42 75 53 C G 120921874 2731 106 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCACCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162361 119162362 119162362 exon -23 0.7066667 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCACCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 27 16 0 0 0 248 1042 0.7830124 0.6768049 0.7299086 0.8487213 0.8449254 0.718807 0.8092808 -0.8487213 -0.8449254 0.06420533 -0.1324759 0.8468233 0.7640439 -0.8468233 -0.0341353 0.812688 FALSE TRUE 0 -1.227 NA NA NA SFXN4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN4 NA NA NA ENSG00000183605 ENSE00003611443 missense_variant -2.037469 0.15007 0.02629 0.706298 0.3082671 0 0.0001483205 FALSE 8.12249e-06 ENSE00001614618_015 ENSE00001614618 015 10 120921810 120921979 - 42 75 53 C T 120921887 2732 93 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATAAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162374 119162375 119162375 exon -36 0.5333333 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATAAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 243 117 0 0 0 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 -0.8487213 -0.8449254 NA NA 0.8468233 0.7640439 -0.8468233 NA NA NA TRUE 0.013 -0.006 . 5_prime_UTR_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/8 1 NA TCA C,T 8.236e-06 10:119162375 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 missense_variant 1.598922 0.19153 0.0353 0.706298 0.9792049 0 0.0001483205 FALSE 4.06101e-06 ENSE00001614618_016 ENSE00001614618 016 10 120921810 120921979 - 42 75 53 C T 120921897 2733 83 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTATGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162384 119162385 119162385 exon 30 0.4 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTATGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 30 15 0 0.1849814 0.09249071 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 -0.8487213 -0.659944 NA NA 0.8468233 0.7640439 -0.7543326 NA NA NA TRUE 0.034 0.395 . 5_prime_UTR_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/8 1 NA ACA C,T 8.236e-06 10:119162385 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 synonymous_variant 0.588319 0.18297 0.03243 0.706298 0.5798847 0 0.0001483205 FALSE 4.06124e-06 ENSE00001614618_017 ENSE00001614618 017 10 120921810 120921979 - 42 75 53 T C 120921900 2734 80 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTGTTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162387 119162388 119162388 exon 27 0.36 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTGTTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 20 11 0.8220983 0.85 0.8360491 149 961 0.95 0.9434757 0.9467379 0.8487213 0.8449254 0.718807 0.8092808 -0.02662298 0.005074572 0.231193 0.1341949 0.8468233 0.7640439 -0.0107742 0.1826939 0.1934681 FALSE FALSE 0 -3.089 rs148808232 5_prime_UTR_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/8 rs148808232 1 C:0.0056 C:0.0204 C:0.0014 NA C:0 C:0 C:0 C:0.0209 C:0 ATA T,C 0.002092 10:119162388 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 synonymous_variant -0.50411 0.13365 0.0112 0.706298 0.3576092 0 0.0001483205 FALSE 0.00167315 ENSE00001614618_018 ENSE00001614618 018 10 120921810 120921979 - 42 75 53 A G 120921921 2735 59 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGCATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162408 119162409 119162409 exon 6 0.08 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGCATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 106 156 0.872476 0.85 0.861238 479 634 0.9242599 0.9339839 0.9291219 0.8487213 0.8449254 0.718807 0.8092808 0.02375473 0.005074572 0.2054529 0.124703 0.8468233 0.7640439 0.01441465 0.165078 0.1506633 FALSE FALSE 0.998 0.454 . 5_prime_UTR_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 3/8 COSM4012070 1 NA TAC A,G 8.236e-06 10:119162409 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 synonymous_variant -0.85393 0.84564 0.25265 0.706298 0.2848568 0 0.0001483205 FALSE 8.12466e-06 ENSE00001614618_019 ENSE00001614618 019 10 120921810 120921979 - 42 75 53 G A 120921936 2736 44 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATTTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162423 119162424 119162424 upstr_intron -10 -0.1698113 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATTTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 153 203 0.85 0.85 0.85 555 1041 0.8 0.8339407 0.8169704 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 0.08119296 0.0246599 0.8468233 0.7640439 0.003176656 0.05292643 0.04974977 FALSE FALSE 0 -0.109 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 2/7 1 NA AGA G,A 8.236e-06 10:119162424 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant -0.098817 0.16514 0.02911 0.079558 0.2884773 0.189838 0.0001483205 FALSE 4.06379e-06 ENSE00001614618_020 ENSE00001614618 020 10 120921810 120921979 - 42 75 53 T C 120921938 2737 42 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATGTCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162425 119162426 119162426 upstr_intron -12 -0.2075472 TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATGTCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 19 44 0.85 0.85 0.85 1350 249 0.7029405 0.8268586 0.7648996 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 -0.01586649 0.01757773 0.8468233 0.7640439 0.003176656 0.0008556197 0.002321036 FALSE FALSE 0 -1.66 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 2/7 1 NA ATA T,C 1.647e-05 10:119162426 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant -0.820017 0.09882 0.01711 0.079558 0.2431878 0.193451 0.0001483205 FALSE 1.21931e-05 ENSE00001614618_021 ENSE00001614618 021 10 120921810 120921979 - 42 75 53 A G 120921943 2738 37 TAAACCTGAACAATGTTGAGATCATTACTTGATTACCTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162430 119162431 119162431 upstr_intron -17 -0.3018868 TAAACCTGAACAATGTTGAGATCATTACTTGATTACCTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 16 38 0.85 0.85 0.85 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 NA NA 0.8468233 0.7640439 0.003176656 NA NA NA FALSE 0.093 1.983 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 2/7 1 NA AAG A,G 8.237e-06 10:119162431 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant 0.039751 0.21443 0.10691 0.079558 0.7025495 0.125036 0.0001483205 FALSE 4.06822e-06 ENSE00001614618_022 ENSE00001614618 022 10 120921810 120921979 - 42 75 53 T G 120921945 2739 35 TAAACCTGAACAATGTTGAGATCATTACTTGATTCCTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162432 119162433 119162433 upstr_intron -19 -0.3396226 TAAACCTGAACAATGTTGAGATCATTACTTGATTCCTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 130 131 0.85 0.85 0.85 962 441 0.8217229 0.8005732 0.8111481 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 0.1029159 -0.008707672 0.8468233 0.7640439 0.003176656 0.04710411 0.04392745 FALSE FALSE 0.032 0.765 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 2/7 1 NA GTA T,G 1.647e-05 10:119162433 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant 0.124934 0.23153 0.02673 0.079558 0.7173379 0.150534 0.0001483205 FALSE 8.14253e-06 ENSE00001614618_023 ENSE00001614618 023 10 120921810 120921979 - 42 75 53 A G 120921946 2740 34 TAAACCTGAACAATGTTGAGATCATTACTTGATCACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162433 119162434 119162434 upstr_intron -20 -0.3584906 TAAACCTGAACAATGTTGAGATCATTACTTGATCACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 274 108 0 0 0 172 150 0.001749339 0 0.0008746694 0.8487213 0.8449254 0.718807 0.8092808 -0.8487213 -0.8449254 -0.7170577 -0.8092808 0.8468233 0.7640439 -0.8468233 -0.7631693 0.08365407 TRUE TRUE 0.011 0.314 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:119162434 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant 0.122901 0.19216 0.03664 0.079558 0.7417432 0.213156 0.0001483205 FALSE 8.13716e-06 ENSE00001614618_024 ENSE00001614618 024 10 120921810 120921979 - 42 75 53 A T 120921946 2741 34 TAAACCTGAACAATGTTGAGATCATTACTTGATAACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162433 119162434 119162434 upstr_intron -20 -0.3584906 TAAACCTGAACAATGTTGAGATCATTACTTGATAACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 31 76 0.8321136 0.85 0.8410568 383 16 0.8 0.8 0.8 0.8487213 0.8449254 0.718807 0.8092808 -0.01660763 0.005074572 0.08119296 -0.009280847 0.8468233 0.7640439 -0.005766529 0.03595606 0.04172259 FALSE FALSE 0.011 0.314 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN4 NA NA NA ENSG00000183605 ENSE00003611443 intron_variant 0.037952 0.20022 0.03867 0.079558 0.7202507 0.213156 0.0001483205 FALSE 2.44115e-05 ENSE00001614618_025 ENSE00001614618 025 10 120921810 120921979 - 42 75 53 T C 120921953 2742 27 TAAACCTGAACAATGTTGAGATCATTGCTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162440 119162441 119162441 upstr_intron -27 -0.490566 TAAACCTGAACAATGTTGAGATCATTGCTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant NA NA NA NA NA 255 726 0.9974388 0.9372768 0.9673578 0.8487213 0.8449254 0.718807 0.8092808 NA NA 0.2786317 0.127996 0.8468233 0.7640439 NA 0.2033139 NA FALSE NA 0 -0.23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:119162441 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant 0.482331 0.13903 0.00479 0.079558 0.7692912 0.150534 0.0001483205 FALSE 0.000122226 ENSE00001614618_026 ENSE00001614618 026 10 120921810 120921979 - 42 75 53 T A 120921953 2743 27 TAAACCTGAACAATGTTGAGATCATTTCTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162440 119162441 119162441 upstr_intron -27 -0.490566 TAAACCTGAACAATGTTGAGATCATTTCTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 393 415 0.8728145 0.85 0.8614072 339 1363 0.8809933 0.9122906 0.8966419 0.8487213 0.8449254 0.718807 0.8092808 0.02409323 0.005074572 0.1621862 0.1030098 0.8468233 0.7640439 0.0145839 0.132598 0.1180141 FALSE FALSE 0 -0.23 NA NA NA SFXN4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN4 NA NA NA ENSG00000183605 ENSE00003611443 intron_variant 0.813009 0.21029 0.02622 0.079558 0.8247637 0.150534 0.0001483205 FALSE 8.14843e-06 ENSE00001614618_027 ENSE00001614618 027 10 120921810 120921979 - 42 75 53 A G 120921964 2744 16 TAAACCTGAACAATGCTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162451 119162452 119162452 upstr_intron -38 -0.6981132 TAAACCTGAACAATGCTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 43 52 0.85 0.85 0.85 NA NA NA NA NA 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.005074572 NA NA 0.8468233 0.7640439 0.003176656 NA NA NA FALSE 0 -0.016 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 2/7 1 NA AAC A,G 8.237e-06 10:119162452 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant 0.693164 0.19062 0.02957 0.079558 0.7621261 0.217576 0.0001483205 FALSE 4.09984e-06 ENSE00001614618_028 ENSE00001614618 028 10 120921810 120921979 - 42 75 53 T C 120921967 2745 13 TAAACCTGAACAGTGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 119162454 119162455 119162455 upstr_intron -41 -0.754717 TAAACCTGAACAGTGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG mutant 61 61 0.85 0.9588945 0.9044473 1107 2285 0.7251011 0.7705448 0.747823 0.8487213 0.8449254 0.718807 0.8092808 0.00127874 0.1139691 0.006294106 -0.03873607 0.8468233 0.7640439 0.05762392 -0.01622098 0.0738449 FALSE FALSE 0 -1.368 . intron_variant MODIFIER SFXN4 HGNC 16088 ENST00000419372 2/7 rs201202336 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 ATT T,C 0.0002718 10:119162455 SFXN4 HGNC Symbol protein_coding 24900 ENSG00000183605 ENSE00003611443 intron_variant 0.31028 0.14212 0.01675 0.078448 0.6854948 0.11233 0.0001483205 FALSE 0.000343004 ENSE00001614618_BRK ENSE00001614618 BRK 10 120921810 120921979 - 42 75 53 A,G; T,T NA NA NA TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTTTGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGCCATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG 119162297 119162467 NA NA NA NA NA NA TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTTTGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGCCATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG TAAACCTGAACAATGTTGAGATCATTACTTGATTACTTGATATCTGATTTTAGGAAAGTATAGAAAACTCGAGGCAACTATTGTGCACAAATGAAGATGTTTCCAGCCCTGCCTCGGCGGACCAAAGGGTATGTTTCACGTGCTCAGGTCTGGCTGGTTGCCCTCAGATG control 244 449 0 0 0 313 250 0.1056081 0 0.05280404 0.8487213 0.8449254 0.718807 0.8092808 -0.8487213 -0.8449254 -0.613199 -0.8092808 0.8468233 0.7640439 -0.8468233 -0.7112399 0.1355834 TRUE TRUE NA NA NA NA NA SFXN4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN4 NA NA NA ENSG00000183605 ENSE00003611443 NA NA NA NA NA NA NA 0.0001483205 FALSE NA ENSE00001614720_000 ENSE00001614720 000 X 32867812 32867981 - 33 93 44 NA NA NA NA NA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 NA NA NA NA NA NA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA natural 120 186 0.9982527 0.9890022 0.9936274 8511 8496 0.9704442 0.9011444 0.9357943 0.9982527 0.9890022 0.9704442 0.9011444 0 0 0 0 0.9936274 0.9357943 0 0 0 FALSE FALSE NA NA NA NA NA DMD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DMD NA NA NA ENSG00000198947 ENSE00003691097 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001614720_001 ENSE00001614720 001 X 32867812 32867981 - 33 93 44 T A 32867824 310 158 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGTAAGTTAACTTTA 32849694 32849864 32849706 32849707 32849707 downstr_intron 21 1.65625 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGTAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 5163 2810 0.983328 0.9990745 0.9912012 0.9982527 0.9890022 0.9704442 0.9011444 NA NA 0.01288377 0.09793004 0.9936274 0.9357943 NA 0.0554069 NA FALSE NA 0.037 1.5 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA TTC T,A 8.237e-06 X:32849707 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 intron_variant 0.134003 0.14753 0.10772 0 0.5213518 0.0431032 1 TRUE 5.61637e-06 ENSE00001614720_002 ENSE00001614720 002 X 32867812 32867981 - 33 93 44 T C 32867826 311 156 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAGGAAAGTTAACTTTA 32849694 32849864 32849708 32849709 32849709 downstr_intron 19 1.59375 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAGGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 746 1752 0.8162284 0.9869227 0.9015756 0.9982527 0.9890022 0.9704442 0.9011444 NA NA -0.1542158 0.08577831 0.9936274 0.9357943 NA -0.03421875 NA FALSE NA 0.001 0.145 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA CTT T,C 1.647e-05 X:32849709 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 intron_variant 0.153392 0.19503 0.01309 0 0.7230442 0.0431032 1 TRUE NA ENSE00001614720_003 ENSE00001614720 003 X 32867812 32867981 - 33 93 44 G C 32867836 312 146 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGAGTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 32849718 32849719 32849719 downstr_intron 9 1.28125 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGAGTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 7011 2485 0.9883346 0.9987566 0.9935456 0.9982527 0.9890022 0.9704442 0.9011444 NA NA 0.01789041 0.0976122 0.9936274 0.9357943 NA 0.0577513 NA FALSE NA 0 -1.982 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA AGT G,C 8.237e-06 X:32849719 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 intron_variant 0.072629 0.15383 0.014 0 0.6351335 0.0431032 1 TRUE 5.60403e-06 ENSE00001614720_005 ENSE00001614720 005 X 32867812 32867981 - 33 93 44 G A 32867886 314 96 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGTGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 32849768 32849769 32849769 exon -42 0.5591398 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGTGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 3510 3081 0.9777429 0.9946484 0.9861957 0.9982527 0.9890022 0.9704442 0.9011444 NA NA 0.00729873 0.09350401 0.9936274 0.9357943 NA 0.05040137 NA FALSE NA 1 1.616 rs147548697 intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 rs147548697 1 NA A:0.0005 A:0 CGC G,A 4.118e-05 X:32849769 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 missense_variant 6.686802 0.96635 0.72769 0 0.9948973 0 1 TRUE 6.16554e-05 ENSE00001614720_006 ENSE00001614720 006 X 32867812 32867981 - 33 93 44 T G 32867922 315 60 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATCTTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 32849804 32849805 32849805 exon 16 0.172043 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATCTTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 1987 1778 0.9992937 0.9898906 0.9945921 0.9982527 0.9890022 0.9704442 0.9011444 NA NA 0.02884948 0.08874618 0.9936274 0.9357943 NA 0.05879783 NA FALSE NA 1 3.404 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA ATA T,G 8.237e-06 X:32849805 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 missense_variant 4.588477 0.98118 0.90944 0 0.9862998 0 1 TRUE 1.12818e-05 ENSE00001614720_009 ENSE00001614720 009 X 32867812 32867981 - 33 93 44 G A 32867940 318 42 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTTAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 32849822 32849823 32849823 upstr_intron -3 -0.04545455 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTTAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 4137 3169 0.9854606 0.7890008 0.8872307 0.9982527 0.9890022 0.9704442 0.9011444 NA NA 0.01501636 -0.1121436 0.9936274 0.9357943 NA -0.04856362 NA FALSE NA 1 2.426 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 rs373907950 1 NA A:0.0013 A:0 TGA G,A 6.639e-05 X:32849823 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 splice_region_variant 1.450212 0.96387 0.79338 0 0.7919423 0.82663 1 TRUE 3.51424e-05 ENSE00001614720_010 ENSE00001614720 010 X 32867812 32867981 - 33 93 44 A T 32867946 319 36 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTAAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 32849828 32849829 32849829 upstr_intron -9 -0.1818182 GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTAAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 493 1162 0.9980641 0.9957086 0.9968864 0.9982527 0.9890022 0.9704442 0.9011444 NA NA 0.02761989 0.09456421 0.9936274 0.9357943 NA 0.06109205 NA FALSE NA 0 0 rs3764764 intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 rs3764764&rs66800250&DMD:c.94-9T>A 1 T:0.0008&T:0.0008 T:0&T:0 NA T:0.002&T:0.002 T:0&T:0 T:0&T:0 TAA A,T 0.0006536 X:32849829 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 intron_variant 0.497746 0.21624 0.12406 0 0.815548 0.0925095 1 TRUE 0.000717437 ENSE00001614720_011 ENSE00001614720 011 X 32867812 32867981 - 33 93 44 C T 32867956 320 26 GGAAGTGTGCTTTGTTAAATTGAGTATATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 32849838 32849839 32849839 upstr_intron -19 -0.4090909 GGAAGTGTGCTTTGTTAAATTGAGTATATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 1887 774 0.9780664 1 0.9890332 0.9982527 0.9890022 0.9704442 0.9011444 NA NA 0.007622181 0.09885558 0.9936274 0.9357943 NA 0.05323888 NA FALSE NA 0 -3.401 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA ACA C,T 8.237e-06 X:32849839 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 intron_variant -0.136643 0.09178 0.00273 0 0.6552939 0.0436289 1 TRUE 5.6442e-06 ENSE00001614720_012 ENSE00001614720 012 X 32867812 32867981 - 33 93 44 C A 32867958 321 24 GGAAGTGTGCTTTGTTAAATTGATTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 32849840 32849841 32849841 upstr_intron -21 -0.4545455 GGAAGTGTGCTTTGTTAAATTGATTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 1509 2621 0.9605566 0.9964884 0.9785225 0.9982527 0.9890022 0.9704442 0.9011444 NA NA -0.009887635 0.09534393 0.9936274 0.9357943 NA 0.04272815 NA FALSE NA 0 -1.616 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA ACT C,A 1.647e-05 X:32849841 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 intron_variant -0.027588 0.10749 0.02009 0 0.4647027 0.0818383 1 TRUE NA ENSE00001614720_013 ENSE00001614720 013 X 32867812 32867981 - 33 93 44 T C 32867963 322 19 GGAAGTGTGCTTTGTTAAGTTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 32849845 32849846 32849846 upstr_intron -26 -0.5681818 GGAAGTGTGCTTTGTTAAGTTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA mutant NA NA NA NA NA 1686 1705 0.8967292 0.9964972 0.9466132 0.9982527 0.9890022 0.9704442 0.9011444 NA NA -0.07371497 0.09535279 0.9936274 0.9357943 NA 0.01081891 NA FALSE NA 0 1.331 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA ATT T,C 1.648e-05 X:32849846 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00003691097 intron_variant 0.14612 0.21969 0.10819 0 0.6049203 0.0436289 1 TRUE 5.6708e-06 ENSE00001614720_BRK ENSE00001614720 BRK X 32867812 32867981 - 33 93 44 A,G; T,T NA NA NA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCTTTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGCCATGTGACTTATTTTTAAGAAAGTTAACTTTA 32849694 32849864 NA NA NA NA NA NA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCTTTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGCCATGTGACTTATTTTTAAGAAAGTTAACTTTA GGAAGTGTGCTTTGTTAAATTGAGTGTATTTTTTTTAATTTCAGTTTGGGAAGCAGCATATTGAGAACCTCTTCAGTGACCTACAGGATGGGAGGCGCCTCCTAGACCTCCTCGAAGGCCTGACAGGGCAAAAACTGGTATGTGACTTATTTTTAAGAAAGTTAACTTTA control 254 87 0 0 0 710 962 0 0.03658118 0.01829059 0.9982527 0.9890022 0.9704442 0.9011444 -0.9982527 -0.9890022 -0.9704442 -0.8645632 0.9936274 0.9357943 -0.9936274 -0.9175037 0.07612371 TRUE TRUE NA NA NA NA NA DMD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DMD NA NA NA ENSG00000198947 ENSE00003691097 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001615110_000 ENSE00001615110 000 12 9310321 9310490 - 42 75 53 NA NA NA NA NA TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 NA NA NA NA NA NA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA natural 665 1246 0.8392099 0.8437681 0.841489 3344 5937 0.9029785 0.9094267 0.9062026 0.8392099 0.8437681 0.9029785 0.9094267 0 0 0 0 0.841489 0.9062026 0 0 0 FALSE FALSE NA NA NA NA NA PZP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PZP NA NA NA ENSG00000126838 ENSE00003464013 NA NA NA NA NA NA NA 1.351838e-21 FALSE NA ENSE00001615110_001 ENSE00001615110 001 12 9310321 9310490 - 42 75 53 G A 9310334 707 157 TACAGTTTTCATGATAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157737 9157738 9157738 downstr_intron 29 1.707317 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTATCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 318 597 0.85 0.8571133 0.8535566 162 251 0.9202627 0.8852521 0.9027574 0.8392099 0.8437681 0.9029785 0.9094267 0.01079014 0.01334521 0.01728422 -0.0241746 0.841489 0.9062026 0.01206768 -0.00344519 0.01551287 FALSE FALSE 0.009 -0.76 . intron_variant MODIFIER PZP HGNC 9750 ENST00000261336 27/35 1 NA GGT G,A 1.647e-05 12:9157738 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 intron_variant 0.106863 0.18681 0.04246 0.053691 0.3398762 0.0540496 1.351838e-21 FALSE 8.1485e-06 ENSE00001615110_002 ENSE00001615110 002 12 9310321 9310490 - 42 75 53 G T 9310354 708 137 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTTGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157757 9157758 9157758 downstr_intron 9 1.219512 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACAAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 52 214 0.85 0.8242225 0.8371112 509 1147 0.9556149 0.9321577 0.9438863 0.8392099 0.8437681 0.9029785 0.9094267 0.01079014 -0.01954559 0.0526364 0.022731 0.841489 0.9062026 -0.004377722 0.0376837 0.04206142 FALSE FALSE 0 0.796 rs193099336 intron_variant MODIFIER PZP HGNC 9750 ENST00000261336 27/35 rs193099336 1 T:0 T:0 NA T:0.001 T:0 T:0 TGG G,T 4.942e-05 12:9157758 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 intron_variant 0.056739 0.19268 0.11844 0.053691 0.7699653 0.0540496 1.351838e-21 FALSE 2.43786e-05 ENSE00001615110_003 ENSE00001615110 003 12 9310321 9310490 - 42 75 53 A G 9310363 709 128 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACGGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157766 9157767 9157767 exon -1 1 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACCGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 53 51 0.85 0.85 0.85 281 478 0.980474 0.9805217 0.9804979 0.8392099 0.8437681 0.9029785 0.9094267 0.01079014 0.006231933 0.07749553 0.07109499 0.841489 0.9062026 0.008511038 0.07429526 0.06578422 FALSE FALSE 0 -0.729 . splice_region_variant&synonymous_variant LOW PZP HGNC 9750 ENST00000261336 27/36 1 NA CAG A,G 8.236e-06 12:9157767 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 splice_region_variant -0.205425 0.30772 0.12841 0.516011 0.6578962 0 1.351838e-21 FALSE 8.12453e-06 ENSE00001615110_004 ENSE00001615110 004 12 9310321 9310490 - 42 75 53 C T 9310368 710 123 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGATTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157771 9157772 9157772 exon -6 0.9333333 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAATCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 46 143 0.85 0.85 0.85 NA NA NA NA NA 0.8392099 0.8437681 0.9029785 0.9094267 0.01079014 0.006231933 NA NA 0.841489 0.9062026 0.008511038 NA NA NA FALSE 0 -0.151 . missense_variant MODERATE PZP HGNC 9750 ENST00000261336 27/36 1 tolerated(0.12) benign(0.026) NA ACT C,T 0.0001812 12:9157772 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 missense_variant 2.249411 0.43074 0.20891 0.516011 0.9875774 0 1.351838e-21 FALSE 0.00015436 ENSE00001615110_005 ENSE00001615110 005 12 9310321 9310490 - 42 75 53 C A 9310383 711 108 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTACAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157786 9157787 9157787 exon -21 0.7333333 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGTAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 61 70 0 0 0 674 46 0.08893181 0.03562518 0.06227849 0.8392099 0.8437681 0.9029785 0.9094267 -0.8392099 -0.8437681 -0.8140467 -0.8738015 0.841489 0.9062026 -0.841489 -0.8439241 0.002435144 TRUE TRUE 1 5.003 rs140851445 stop_gained HIGH PZP HGNC 9750 ENST00000261336 27/36 rs140851445 1 A:0 A:0.0014 NA A:0 A:0 A:0 HC TCC C,A 0.0005601 12:9157787 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 stop_gained 11.70627 0.94181 0.93973 0.497415 0.9968544 0 1.351838e-21 FALSE 0.000625635 ENSE00001615110_006 ENSE00001615110 006 12 9310321 9310490 - 42 75 53 T C 9310403 712 88 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACACAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157806 9157807 9157807 exon 35 0.4666667 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTGTGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 34 36 0.903895 0.9816218 0.9427584 564 75 0.9994881 1 0.9997441 0.8392099 0.8437681 0.9029785 0.9094267 0.06468513 0.1378537 0.09650959 0.09057332 0.841489 0.9062026 0.1012694 0.09354146 0.007727965 FALSE FALSE 1 2.571 . missense_variant MODERATE PZP HGNC 9750 ENST00000261336 27/36 1 deleterious(0) probably_damaging(0.998) NA ATA T,C 2.471e-05 12:9157807 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 missense_variant 4.344601 0.9209 0.85002 0.497415 0.9932961 0 1.351838e-21 FALSE 3.24952e-05 ENSE00001615110_007 ENSE00001615110 007 12 9310321 9310490 - 42 75 53 G A 9310405 713 86 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAAGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157808 9157809 9157809 exon 33 0.44 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCTTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 81 58 0.8635987 0.9427129 0.9031558 2312 669 0.7995385 0.6874844 0.7435114 0.8392099 0.8437681 0.9029785 0.9094267 0.02438881 0.0989448 -0.10344 -0.2219423 0.841489 0.9062026 0.0616668 -0.1626912 0.224358 FALSE FALSE 0.999 0.511 . synonymous_variant LOW PZP HGNC 9750 ENST00000261336 27/36 1 NA AGG G,A 8.236e-06 12:9157809 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 synonymous_variant 0.636026 0.93726 0.81219 0.497415 0.7206193 0 1.351838e-21 FALSE 4.06204e-06 ENSE00001615110_008 ENSE00001615110 008 12 9310321 9310490 - 42 75 53 C T 9310407 714 84 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGTGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157810 9157811 9157811 exon 31 0.4133333 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCACCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant NA NA NA NA NA 3323 1359 0.7996303 0.8558527 0.8277415 0.8392099 0.8437681 0.9029785 0.9094267 NA NA -0.1033482 -0.05357398 0.841489 0.9062026 NA -0.07846108 NA FALSE NA 0.995 3.106 . missense_variant MODERATE PZP HGNC 9750 ENST00000261336 27/36 COSM171473&COSM171474 1 deleterious(0.01) benign(0.005) NA GCG C,T 8.236e-05 12:9157811 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 missense_variant 3.552601 0.91181 0.88285 0.497415 0.9942563 0 1.351838e-21 FALSE 8.53228e-05 ENSE00001615110_009 ENSE00001615110 009 12 9310321 9310490 - 42 75 53 G A 9310408 715 83 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCAGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157811 9157812 9157812 exon 30 0.4 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCTGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant NA NA NA NA NA 237 441 0.7649563 0.6730061 0.7189812 0.8392099 0.8437681 0.9029785 0.9094267 NA NA -0.1380222 -0.2364206 0.841489 0.9062026 NA -0.1872214 NA FALSE NA 0.045 -0.478 . synonymous_variant LOW PZP HGNC 9750 ENST00000261336 27/36 1 NA CGG G,A 3.295e-05 12:9157812 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 synonymous_variant 1.353343 0.79584 0.02072 0.497415 0.6666342 0 1.351838e-21 FALSE 5.28189e-05 ENSE00001615110_010 ENSE00001615110 010 12 9310321 9310490 - 42 75 53 C T 9310417 716 74 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTTGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157820 9157821 9157821 exon 21 0.28 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCAACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 158 274 0.846523 0.8378744 0.8421987 546 147 0.8005901 0.8009824 0.8007863 0.8392099 0.8437681 0.9029785 0.9094267 0.00731318 -0.005893684 -0.1023884 -0.1084442 0.841489 0.9062026 0.0007097482 -0.1054163 0.1061261 FALSE FALSE 0 -0.591 . synonymous_variant LOW PZP HGNC 9750 ENST00000261336 27/36 1 NA TCG C,T 8.236e-06 12:9157821 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 synonymous_variant 1.590369 0.66088 0.20972 0.497415 0.7193874 0 1.351838e-21 FALSE 8.12889e-06 ENSE00001615110_011 ENSE00001615110 011 12 9310321 9310490 - 42 75 53 G A 9310418 717 73 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCACTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157821 9157822 9157822 exon 20 0.2666667 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGTGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 25 51 0.85 0.85 0.85 153 1445 0.8449303 0.8374293 0.8411798 0.8392099 0.8437681 0.9029785 0.9094267 0.01079014 0.006231933 -0.05804824 -0.07199736 0.841489 0.9062026 0.008511038 -0.0650228 0.07353384 FALSE FALSE 0.014 3.311 rs139562683 missense_variant MODERATE PZP HGNC 9750 ENST00000261336 27/36 rs139562683 1 tolerated(1) benign(0) A:0 A:0 NA A:0.002 A:0 A:0 A:0 A:0.0001 CGC G,A 4.118e-05 12:9157822 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 missense_variant -0.359486 0.65449 0.00731 0.497415 0.6550416 0 1.351838e-21 FALSE 5.28438e-05 ENSE00001615110_012 ENSE00001615110 012 12 9310321 9310490 - 42 75 53 A T 9310423 718 68 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCTTCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157826 9157827 9157827 exon 15 0.2 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGAAGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 20 134 0.85 0.85 0.85 NA NA NA NA NA 0.8392099 0.8437681 0.9029785 0.9094267 0.01079014 0.006231933 NA NA 0.841489 0.9062026 0.008511038 NA NA NA FALSE 0.616 0.337 rs185115711 missense_variant MODERATE PZP HGNC 9750 ENST00000261336 27/36 rs185115711 1 deleterious(0) probably_damaging(0.924) G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,T 8.236e-06 12:9157827 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 missense_variant 3.854602 0.89039 0.8592 0.497415 0.9845635 0 1.351838e-21 FALSE 4.06491e-06 ENSE00001615110_013 ENSE00001615110 013 12 9310321 9310490 - 42 75 53 C T 9310447 719 44 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATATAACATTGATTTGATTAATTCCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157850 9157851 9157851 upstr_intron -10 -0.1698113 GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTATATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant NA NA NA NA NA 96 28 0.8823552 0.8051634 0.8437593 0.8392099 0.8437681 0.9029785 0.9094267 NA NA -0.02062331 -0.1042633 0.841489 0.9062026 NA -0.06244332 NA FALSE NA 0 -0.495 . intron_variant MODIFIER PZP HGNC 9750 ENST00000261336 26/35 1 NA ACA C,T 1.647e-05 12:9157851 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 intron_variant -0.22691 0.11616 0.02083 0.053691 0.7721657 0.0964423 1.351838e-21 FALSE 4.08727e-06 ENSE00001615110_014 ENSE00001615110 014 12 9310321 9310490 - 42 75 53 T A 9310466 720 25 GAATATACTAACACTTGGCACTGGTATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA 9157724 9157894 9157869 9157870 9157870 upstr_intron -29 -0.5283019 GAATATACTAACACTTGGCACTGGTATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 26 96 0.85 0.85 0.85 NA NA NA NA NA 0.8392099 0.8437681 0.9029785 0.9094267 0.01079014 0.006231933 NA NA 0.841489 0.9062026 0.008511038 NA NA NA FALSE 0 -0.46 . intron_variant MODIFIER PZP HGNC 9750 ENST00000261336 26/35 1 NA TTC T,A 8.237e-06 12:9157870 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 intron_variant 0.848781 0.19542 0.07341 0.053691 0.8431961 0.0546611 1.351838e-21 FALSE 8.36694e-06 ENSE00001615110_015 ENSE00001615110 015 12 9310321 9310490 - 42 75 53 C T 9310467 721 24 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTTCAGTGCCAAGTGTTAGTATATTC 9157724 9157894 9157870 9157871 9157871 upstr_intron -30 -0.5471698 GAATATACTAACACTTGGCACTGAAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant NA NA NA NA NA 325 647 0.9704595 0.9278865 0.949173 0.8392099 0.8437681 0.9029785 0.9094267 NA NA 0.06748099 0.01845983 0.841489 0.9062026 NA 0.04297041 NA FALSE NA 0 -0.797 . intron_variant MODIFIER PZP HGNC 9750 ENST00000261336 26/35 1 NA TCC C,T 8.237e-06 12:9157871 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 intron_variant 0.483054 0.17467 0.02224 0.053691 0.8681446 0.0546611 1.351838e-21 FALSE 8.39313e-06 ENSE00001615110_016 ENSE00001615110 016 12 9310321 9310490 - 42 75 53 G T 9310470 722 21 TACAGTTTTCATGGTAGGGAATGGGATTGAGCTGGTACCTACAGTGACTGGGAGAGGAATTTCCAGAAGGGCAATAGTAACATAGGCGGAGAGGGTCGCTTCATCTTCTACACCTCCCTGTGAATACAACATTGATTTGATTAATTCCATTGCCAAGTGTTAGTATATTC 9157724 9157894 9157873 9157874 9157874 upstr_intron -33 -0.6037736 GAATATACTAACACTTGGCAATGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA mutant 41 36 0.85 0.85 0.85 176 20 0.9922689 0.95 0.9711344 0.8392099 0.8437681 0.9029785 0.9094267 0.01079014 0.006231933 0.08929036 0.04057332 0.841489 0.9062026 0.008511038 0.06493184 0.0564208 FALSE FALSE 0 -1.099 . intron_variant MODIFIER PZP HGNC 9750 ENST00000261336 26/35 1 NA AGT G,T 8.238e-06 12:9157874 PZP HGNC Symbol protein_coding 59530 ENSG00000126838 ENSE00003464013 intron_variant -0.304882 0.1663 0.0125 0.053691 0.6852199 0.0909749 1.351838e-21 FALSE 4.24232e-06 ENSE00001615110_BRK ENSE00001615110 BRK 12 9310321 9310490 - 42 75 53 A,G; T,T NA NA NA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACTTGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTCCAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA 9157724 9157894 NA NA NA NA NA NA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACTTGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTCCAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA GAATATACTAACACTTGGCACTGGAATTAATCAAATCAATGTTGTATTCACAGGGAGGTGTAGAAGATGAAGCGACCCTCTCCGCCTATGTTACTATTGCCCTTCTGGAAATTCCTCTCCCAGTCACTGTAGGTACCAGCTCAATCCCATTCCCTACCATGAAAACTGTA control 35 60 0 0 0 783 129 0 0.006450616 0.003225308 0.8392099 0.8437681 0.9029785 0.9094267 -0.8392099 -0.8437681 -0.9029785 -0.9029761 0.841489 0.9062026 -0.841489 -0.9029773 0.06148833 TRUE TRUE NA NA NA NA NA PZP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PZP NA NA NA ENSG00000126838 ENSE00003464013 NA NA NA NA NA NA NA 1.351838e-21 FALSE NA ENSE00001615124_000 ENSE00001615124 000 X 13753326 13753495 + 41 99 30 NA NA NA NA NA CCTCTGCCCCGCAGGTAACCTATAACCATTTTGTCTTTTAGTCCAACATGTTTACCGTGGCTGATGTGTTGAGTCAAGATGAACTGCGCAAAAAGCTATACCAGACGTTTAAGGATCGGGGTATACTGGATACACTCAAGGTATCGGATTTAGGCGTATCTGTGTCAGCT 13735206 13735376 NA NA NA NA NA NA CCTCTGCCCCGCAGGTAACCTATAACCATTTTGTCTTTTAGTCCAACATGTTTACCGTGGCTGATGTGTTGAGTCAAGATGAACTGCGCAAAAAGCTATACCAGACGTTTAAGGATCGGGGTATACTGGATACACTCAAGGTATCGGATTTAGGCGTATCTGTGTCAGCT CCTCTGCCCCGCAGGTAACCTATAACCATTTTGTCTTTTAGTCCAACATGTTTACCGTGGCTGATGTGTTGAGTCAAGATGAACTGCGCAAAAAGCTATACCAGACGTTTAAGGATCGGGGTATACTGGATACACTCAAGGTATCGGATTTAGGCGTATCTGTGTCAGCT natural NA NA NA NA NA 1851 827 0.9695159 0.8891844 0.9293501 NA NA 0.9695159 0.8891844 NA NA 0 0 NA 0.9293501 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003513024 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001615631_000 ENSE00001615631 000 3 9121661 9121830 - 48 63 59 NA NA NA NA NA ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 NA NA NA NA NA NA ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT natural 159 218 0.9330962 0.9572582 0.9451772 2111 659 0.9037166 0.967941 0.9358288 0.9330962 0.9572582 0.9037166 0.967941 0 0 0 0 0.9451772 0.9358288 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRGAP3 NA NA NA ENSG00000196220 ENSE00003503743 NA NA NA NA NA NA NA 0.9999978 TRUE NA ENSE00001615631_001 ENSE00001615631 001 3 9121661 9121830 - 48 63 59 C A 9121671 66 160 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGTGTCTCTGTCT 9079976 9080146 9079986 9079987 9079987 downstr_intron 38 1.808511 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGTGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 370 128 1 0.9987624 0.9993812 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09628345 0.03082141 0.9451772 0.9358288 NA 0.06355243 NA FALSE NA 0 0.336 NA NA NA SRGAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:9079987 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant 0.844699 0.25256 0.16864 0.078448 0.8234626 0.108368 0.9999978 TRUE 4.0857e-06 ENSE00001615631_003 ENSE00001615631 003 3 9121661 9121830 - 48 63 59 T C 9121675 68 156 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGGTTGGGTCTCTGTCT 9079976 9080146 9079990 9079991 9079991 downstr_intron 34 1.723404 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGGTTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 642 163 0.9968315 0.8113535 0.9040925 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09311494 -0.1565875 0.9451772 0.9358288 NA -0.03173628 NA FALSE NA 0 -0.78 . intron_variant MODIFIER SRGAP3 HGNC 19744 ENST00000360413 4/21 1 NA ATC T,C 1.647e-05 3:9079991 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant 0.366778 0.21143 0.05647 0.078448 0.8266366 0.0654795 0.9999978 TRUE 8.159e-06 ENSE00001615631_005 ENSE00001615631 005 3 9121661 9121830 - 48 63 59 C G 9121683 70 148 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTCTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9079998 9079999 9079999 downstr_intron 26 1.553191 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTCTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 49 161 0.9939685 1 0.9969843 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09025196 0.032059 0.9451772 0.9358288 NA 0.06115548 NA FALSE NA 0.002 -0.011 . intron_variant MODIFIER SRGAP3 HGNC 19744 ENST00000360413 4/21 1 NA ACA C,G 8.236e-06 3:9079999 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant 0.370887 0.22662 0.12976 0.078448 0.7059591 0.0654795 0.9999978 TRUE 4.07438e-06 ENSE00001615631_006 ENSE00001615631 006 3 9121661 9121830 - 48 63 59 A G 9121684 71 147 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCCGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9079999 9080000 9080000 downstr_intron 25 1.531915 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCCGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 92 28 1 1 1 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09628345 0.032059 0.9451772 0.9358288 NA 0.06417122 NA FALSE NA 0.005 0.155 . intron_variant MODIFIER SRGAP3 HGNC 19744 ENST00000360413 4/21 1 NA CAG A,G 1.647e-05 3:9080000 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant 0.027841 0.20296 0.09269 0.078448 0.7723553 0.0654795 0.9999978 TRUE 1.22184e-05 ENSE00001615631_007 ENSE00001615631 007 3 9121661 9121830 - 48 63 59 G A 9121688 72 143 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCATTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080003 9080004 9080004 downstr_intron 21 1.446809 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCATTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 49 449 1 0.997416 0.998708 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09628345 0.029475 0.9451772 0.9358288 NA 0.06287922 NA FALSE NA 0.017 1.133 . intron_variant MODIFIER SRGAP3 HGNC 19744 ENST00000360413 4/21 1 NA AGT G,A 8.236e-06 3:9080004 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant 0.058253 0.18574 0.09731 0.078448 0.4353363 0.0654795 0.9999978 TRUE 4.07146e-06 ENSE00001615631_011 ENSE00001615631 011 3 9121661 9121830 - 48 63 59 G A 9121745 76 86 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCATGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080060 9080061 9080061 exon 27 0.4285714 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCATGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 307 377 0.9862401 0.835642 0.9109411 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.08252359 -0.132299 0.9451772 0.9358288 NA -0.02488769 NA FALSE NA 0 -1.869 . synonymous_variant LOW SRGAP3 HGNC 19744 ENST00000360413 4/22 1 NA CGT G,A 1.647e-05 3:9080061 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 synonymous_variant 1.061137 0.78755 0.06559 0.614807 0.8552643 0 0.9999978 TRUE 1.62645e-05 ENSE00001615631_012 ENSE00001615631 012 3 9121661 9121830 - 48 63 59 T G 9121750 77 81 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGCTGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080065 9080066 9080066 exon 22 0.3492063 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGCTGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 88 98 1 0.9555753 0.9777876 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09628345 -0.01236575 0.9451772 0.9358288 NA 0.04195885 NA FALSE NA 1 5.326 . missense_variant MODERATE SRGAP3 HGNC 19744 ENST00000360413 4/22 rs374698201 1 tolerated(1) possibly_damaging(0.856) NA G:0 G:0.0001 ATC T,G 8.236e-06 3:9080066 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 missense_variant 2.997716 0.93583 0.86389 0.614807 0.8869937 0 0.9999978 TRUE 1.62619e-05 ENSE00001615631_014 ENSE00001615631 014 3 9121661 9121830 - 48 63 59 C T 9121758 79 73 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGACCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080073 9080074 9080074 exon 14 0.2222222 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGACCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 65 122 1 1 1 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09628345 0.032059 0.9451772 0.9358288 NA 0.06417122 NA FALSE NA 1 5.184 . missense_variant MODERATE SRGAP3 HGNC 19744 ENST00000360413 4/22 1 deleterious(0.02) probably_damaging(1) NA GCC C,T 8.236e-06 3:9080074 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 missense_variant 5.52698 0.9414 0.85197 0.614807 0.9982947 0 0.9999978 TRUE 8.13134e-06 ENSE00001615631_015 ENSE00001615631 015 3 9121661 9121830 - 48 63 59 C T 9121759 80 72 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTAGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080074 9080075 9080075 exon 13 0.2063492 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTAGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 102 57 1 0.9972152 0.9986076 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09628345 0.02927418 0.9451772 0.9358288 NA 0.06277882 NA FALSE NA 1 5.184 . missense_variant MODERATE SRGAP3 HGNC 19744 ENST00000360413 4/22 1 tolerated(0.16) probably_damaging(1) NA CCA C,T 8.236e-06 3:9080075 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 missense_variant 5.130061 0.9414 0.85197 0.614807 0.9986998 0 0.9999978 TRUE 8.13134e-06 ENSE00001615631_016 ENSE00001615631 016 3 9121661 9121830 - 48 63 59 G C 9121782 81 49 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTGCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080097 9080098 9080098 upstr_intron -11 -0.1694915 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTGCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 38 505 0.9388922 1 0.9694461 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.03517568 0.032059 0.9451772 0.9358288 NA 0.03361734 NA FALSE NA 0.009 -0.642 . intron_variant MODIFIER SRGAP3 HGNC 19744 ENST00000360413 3/21 1 NA GGA G,C 8.236e-06 3:9080098 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant 1.179319 0.24602 0.07951 0.074388 0.7619659 0.260769 0.9999978 TRUE 8.13035e-06 ENSE00001615631_017 ENSE00001615631 017 3 9121661 9121830 - 48 63 59 T C 9121792 82 39 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACGTTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080107 9080108 9080108 upstr_intron -21 -0.3389831 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACGTTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 97 29 1 0.9945069 0.9972534 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09628345 0.02656586 0.9451772 0.9358288 NA 0.06142465 NA FALSE NA 0.99 -0.115 . intron_variant MODIFIER SRGAP3 HGNC 19744 ENST00000360413 3/21 1 NA ATG T,C 8.236e-06 3:9080108 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant 0.445552 0.31777 0.25737 0.085619 0.7597377 0.0812853 0.9999978 TRUE 1.21963e-05 ENSE00001615631_019 ENSE00001615631 019 3 9121661 9121830 - 48 63 59 G A 9121799 84 32 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCTGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080114 9080115 9080115 upstr_intron -28 -0.4576271 ATTGGTAAATGTAGCCAGCAAACTTCTCCCCTGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 58 42 1 1 1 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09628345 0.032059 0.9451772 0.9358288 NA 0.06417122 NA FALSE NA 0 -1.186 NA NA NA SRGAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:9080115 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant -0.083232 0.10551 0.00735 0.085619 0.7796007 0.077721 0.9999978 TRUE 2.84689e-05 ENSE00001615631_025 ENSE00001615631 025 3 9121661 9121830 - 48 63 59 T G 9121809 90 22 ATTGGTAAATGTAGCCAGCAACCTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 9080124 9080125 9080125 upstr_intron -38 -0.6271186 ATTGGTAAATGTAGCCAGCAACCTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT mutant NA NA NA NA NA 127 45 0.9977094 0.9991498 0.9984296 0.9330962 0.9572582 0.9037166 0.967941 NA NA 0.09399282 0.03120878 0.9451772 0.9358288 NA 0.0626008 NA FALSE NA 0 -0.406 . intron_variant MODIFIER SRGAP3 HGNC 19744 ENST00000360413 3/21 1 NA GTT T,G 8.237e-06 3:9080125 SRGAP3 HGNC Symbol protein_coding 382462 ENSG00000196220 ENSE00003503743 intron_variant 0.334514 0.21513 0.03484 0.085619 0.7596231 0.0448725 0.9999978 TRUE 4.06828e-06 ENSE00001615631_BRK ENSE00001615631 BRK 3 9121661 9121830 - 48 63 59 A,G; T,T NA NA NA ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCTTAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACACCAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT 9079976 9080146 NA NA NA NA NA NA ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCTTAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACACCAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT ATTGGTAAATGTAGCCAGCAAACTTCTCCCCCGCTGACATTTGTTCTTCCACATTCCAGAGCAAGGAGATTGGCCTGCAGATGCACGAGGAGCTCCTGAAGGTGACCAATGAGCTCTACACAGTAAGTTCTGCCCAGGCTCACTGCTGTTTTGGGATTGGGTCTCTGTCT control 79 65 0 0 0 82 276 0 0 0 0.9330962 0.9572582 0.9037166 0.967941 -0.9330962 -0.9572582 -0.9037166 -0.967941 0.9451772 0.9358288 -0.9451772 -0.9358288 0.009348387 TRUE TRUE NA NA NA NA NA SRGAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRGAP3 NA NA NA ENSG00000196220 ENSE00003503743 NA NA NA NA NA NA NA 0.9999978 TRUE NA ENSE00001617157_000 ENSE00001617157 000 4 114214555 114214724 + 41 99 30 NA NA NA NA NA CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 NA NA NA NA NA NA CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC natural NA NA NA NA NA 167 711 0.998512 0.9918414 0.9951767 NA NA 0.998512 0.9918414 NA NA 0 0 NA 0.9951767 NA 0 NA FALSE NA NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002498329 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001617157_001 ENSE00001617157 001 4 114214555 114214724 + 41 99 30 T C 114214571 1472 17 CTCTCTTATTTCTCACCCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293414 113293415 113293415 upstr_intron -25 -0.5853659 CTCTCTTATTTCTCACCCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 14 101 1 1 1 NA NA 0.998512 0.9918414 NA NA 0.001488019 0.008158642 NA 0.9951767 NA 0.004823331 NA FALSE NA 0.492 1.939 rs112663572 intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 22/46 rs112663572 1 C:0.0014 C:0.0053 C:0 NA C:0 C:0 C:0 C:0.0077 C:0 CTC T,C 0.0006425 4:113293415 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 non_coding_transcript_exon_variant 1.482022 0.97222 0.57499 0.074636 0.7968861 0.829113 1 TRUE 0.000417062 ENSE00001617157_004 ENSE00001617157 004 4 114214555 114214724 + 41 99 30 A C 114214603 1475 49 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCACCACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293446 113293447 113293447 exon 8 0.08080808 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCACCACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 483 41 0.9987149 1 0.9993574 NA NA 0.998512 0.9918414 NA NA 0.0002029064 0.008158642 NA 0.9951767 NA 0.004180774 NA FALSE NA 1 9.343 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 23/47 1 tolerated(0.19) benign(0.343) NA AAC A,C 2.471e-05 4:113293447 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 missense_variant 4.566862 0.9787 0.95519 0.553676 0.9899233 0 1 TRUE 1.62729e-05 ENSE00001617157_006 ENSE00001617157 006 4 114214555 114214724 + 41 99 30 C T 114214640 1477 86 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATTTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293483 113293484 113293484 exon 45 0.4545455 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATTTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 426 602 1 0.9999368 0.9999684 NA NA 0.998512 0.9918414 NA NA 0.001488019 0.0080954 NA 0.9951767 NA 0.00479171 NA FALSE NA 1 3.937 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 23/47 rs554153174&COSM3599244&COSM3599245 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C,T 1.647e-05 4:113293484 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 synonymous_variant 1.82614 0.96677 0.8376 0.553676 0.9136526 0 1 TRUE 2.84463e-05 ENSE00001617157_007 ENSE00001617157 007 4 114214555 114214724 + 41 99 30 C T 114214643 1478 89 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCTGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293486 113293487 113293487 exon 48 0.4848485 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCTGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 433 364 0.9997145 0.9929838 0.9963491 NA NA 0.998512 0.9918414 NA NA 0.001202543 0.001142393 NA 0.9951767 NA 0.001172468 NA FALSE NA 0.001 -1.632 rs150598396 synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 23/47 rs150598396 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 8.236e-05 4:113293487 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 synonymous_variant 2.374068 0.85277 0.10534 0.553676 0.8788072 0 1 TRUE 6.90916e-05 ENSE00001617157_008 ENSE00001617157 008 4 114214555 114214724 + 41 99 30 T C 114214645 1479 91 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGCGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293488 113293489 113293489 exon -50 0.5050505 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGCGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 67 70 1 1 1 NA NA 0.998512 0.9918414 NA NA 0.001488019 0.008158642 NA 0.9951767 NA 0.004823331 NA FALSE NA 1 8.042 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 23/47 1 deleterious(0) probably_damaging(0.999) NA GTG T,C 4.118e-05 4:113293489 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 missense_variant 5.80808 0.97753 0.93432 0.553676 0.9987433 0 1 TRUE 3.65767e-05 ENSE00001617157_009 ENSE00001617157 009 4 114214555 114214724 + 41 99 30 G A 114214646 1480 92 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTAGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293489 113293490 113293490 exon -49 0.5151515 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTAGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 153 139 1 0.9952055 0.9976028 NA NA 0.998512 0.9918414 NA NA 0.001488019 0.003364166 NA 0.9951767 NA 0.002426093 NA FALSE NA 1 5.642 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 23/47 1 NA TGG G,A 8.236e-06 4:113293490 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 synonymous_variant 1.348182 0.96729 0.89488 0.553676 0.9124449 0 1 TRUE 8.12962e-06 ENSE00001617157_010 ENSE00001617157 010 4 114214555 114214724 + 41 99 30 C T 114214649 1481 95 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTTGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293492 113293493 113293493 exon -46 0.5454545 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTTGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 340 16 0.9911497 1 0.9955748 NA NA 0.998512 0.9918414 NA NA -0.00736233 0.008158642 NA 0.9951767 NA 0.000398156 NA FALSE NA 0.905 -0.045 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 23/47 COSM1471598&COSM3428062 1 NA TCG C,T 0.0001235 4:113293493 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 synonymous_variant 2.429596 0.9349 0.54643 0.553676 0.8942049 0 1 TRUE 0.000101642 ENSE00001617157_011 ENSE00001617157 011 4 114214555 114214724 + 41 99 30 G A 114214650 1482 96 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCAACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293493 113293494 113293494 exon -45 0.5555556 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCAACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 293 156 0.998729 1 0.9993645 NA NA 0.998512 0.9918414 NA NA 0.0002170184 0.008158642 NA 0.9951767 NA 0.00418783 NA FALSE NA 1 9.873 NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:113293494 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 missense_variant 7.223193 0.98234 0.96005 0.553676 0.9993448 0 1 TRUE 4.06577e-06 ENSE00001617157_014 ENSE00001617157 014 4 114214555 114214724 + 41 99 30 G A 114214662 1485 108 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGATTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293505 113293506 113293506 exon -33 0.6767677 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGATTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 58 13 1 1 1 NA NA 0.998512 0.9918414 NA NA 0.001488019 0.008158642 NA 0.9951767 NA 0.004823331 NA FALSE NA 1 9.873 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 23/47 1 tolerated(0.15) benign(0.014) NA GGT G,A 8.236e-06 4:113293506 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 missense_variant 4.818167 0.97455 0.95275 0.553676 0.9969008 0 1 TRUE 8.13193e-06 ENSE00001617157_016 ENSE00001617157 016 4 114214555 114214724 + 41 99 30 C G 114214685 1487 131 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACGACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293528 113293529 113293529 exon -10 0.9090909 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACGACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 231 165 0.9932985 0.9909831 0.9921408 NA NA 0.998512 0.9918414 NA NA -0.00521347 -0.0008582553 NA 0.9951767 NA -0.003035862 NA FALSE NA 0.983 0.486 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 23/47 rs553116512 1 NA CCA C,G 3.295e-05 4:113293529 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 synonymous_variant 1.369804 0.95342 0.78085 0.553676 0.765972 0 1 TRUE 2.44314e-05 ENSE00001617157_018 ENSE00001617157 018 4 114214555 114214724 + 41 99 30 T G 114214702 1489 148 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTAGGAGTGACTGACTAGCTTCAGCC 113293398 113293568 113293545 113293546 113293546 downstr_intron 8 1.275862 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTAGGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 801 408 0.9923901 0.9993444 0.9958673 NA NA 0.998512 0.9918414 NA NA -0.006121835 0.007503023 NA 0.9951767 NA 0.0006905938 NA FALSE NA 0.012 -0.09 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000506722 23/46 1 NA ATG T,G 8.236e-06 4:113293546 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 splice_region_variant 0.508789 0.33504 0.06102 0.06567 0.73534 0.19072 1 TRUE 4.08273e-06 ENSE00001617157_019 ENSE00001617157 019 4 114214555 114214724 + 41 99 30 C A 114214713 1490 159 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGAATAGCTTCAGCC 113293398 113293568 113293556 113293557 113293557 downstr_intron 19 1.655172 CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGAATAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC mutant NA NA NA NA NA 195 37 1 1 1 NA NA 0.998512 0.9918414 NA NA 0.001488019 0.008158642 NA 0.9951767 NA 0.004823331 NA FALSE NA 0 -0.583 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 23/46 rs377657569 1 NA A:0 A:0.0001 ACT C,A 1.647e-05 4:113293557 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002498329 intron_variant 0.299749 0.33326 0.08724 0.06567 0.5248123 0.046323 1 TRUE 1.22948e-05 ENSE00001617157_BRK ENSE00001617157 BRK 4 114214555 114214724 + 41 99 30 A,G; T,T NA NA NA CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCTTAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACACCGAGTATGAGTGACTGACTAGCTTCAGCC 113293398 113293568 NA NA NA NA NA NA CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCTTAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACACCGAGTATGAGTGACTGACTAGCTTCAGCC CTCTCTTATTTCTCACTCTCTCTCTTTCACTCTCTCTTCAGAATGGCAACACTGCCTTGGCGATTGCTAAGCGTCTGGGCTACATCTCCGTGGTCGACACCCTGAAGGTTGTGACTGAGGAGGTCACCACCACCACCACAGTGAGTATGAGTGACTGACTAGCTTCAGCC control 10 26 0 0 0 NA NA NA NA NA NA NA 0.998512 0.9918414 NA NA NA NA NA 0.9951767 NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002498329 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001617896_000 ENSE00001617896 000 20 20139961 20140130 + 53 75 42 NA NA NA NA NA TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 NA NA NA NA NA NA TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC natural 68 82 0.85 0.950626 0.900313 2484 2075 0.9327401 0.953181 0.9429605 0.85 0.950626 0.9327401 0.953181 0 0 0 0 0.900313 0.9429605 0 0 0 FALSE FALSE NA NA NA NA NA C20orf26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CFAP61 NA NA NA ENSG00000089101 ENSE00003589138 NA NA NA NA NA NA NA NA NA NA ENSE00001617896_001 ENSE00001617896 001 20 20139961 20140130 + 53 75 42 T A 20139975 552 15 TAAACCACTGTAGGAGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159330 20159331 20159331 upstr_intron -39 -0.7169811 TAAACCACTGTAGGAGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 470 386 0.9542517 0.9740595 0.9641556 0.85 0.950626 0.9327401 0.953181 NA NA 0.02151166 0.02087853 0.900313 0.9429605 NA 0.02119509 NA FALSE NA 0 0.021 . intron_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 9/21 1 NA GTG T,A 8.237e-06 20:20159331 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 intron_variant 0.376641 0.15819 0.01864 0.061011 0.4998435 0.0443366 NA NA 4.06679e-06 ENSE00001617896_004 ENSE00001617896 004 20 20139961 20140130 + 53 75 42 T C 20139986 555 26 TAAACCACTGTAGGTGTCGATTAATCTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159341 20159342 20159342 upstr_intron -28 -0.509434 TAAACCACTGTAGGTGTCGATTAATCTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 684 613 0.9770638 0.9797805 0.9784221 0.85 0.950626 0.9327401 0.953181 NA NA 0.0443237 0.02659956 0.900313 0.9429605 NA 0.03546163 NA FALSE NA 0.011 0.449 . intron_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 9/21 rs369312827 1 NA TTT T,C 8.237e-06 20:20159342 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 intron_variant 0.089028 0.16027 0.03296 0.061011 0.643488 0.0443366 NA NA 4.06322e-06 ENSE00001617896_005 ENSE00001617896 005 20 20139961 20140130 + 53 75 42 A G 20139990 556 30 TAAACCACTGTAGGTGTCGATTAATTTTCGTGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159345 20159346 20159346 upstr_intron -24 -0.4339623 TAAACCACTGTAGGTGTCGATTAATTTTCGTGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 152 13 1 0.95 0.975 0.85 0.950626 0.9327401 0.953181 NA NA 0.06725993 -0.003180953 0.900313 0.9429605 NA 0.03203949 NA FALSE NA 0 -1.077 . intron_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 9/21 rs377000035 1 NA G:0 G:0.0001 CAT A,G 1.647e-05 20:20159346 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 intron_variant -0.191927 0.10938 0.00829 0.061011 0.3091921 0.0828975 NA NA 8.12566e-06 ENSE00001617896_007 ENSE00001617896 007 20 20139961 20140130 + 53 75 42 T C 20139999 558 39 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCCGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159354 20159355 20159355 upstr_intron -15 -0.2641509 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCCGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 130 393 0 0.01431793 0.007158964 0.85 0.950626 0.9327401 0.953181 NA NA -0.9327401 -0.938863 0.900313 0.9429605 NA -0.9358015 NA TRUE NA 0 -0.29 NA NA NA C20orf26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:20159355 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 intron_variant -0.208206 0.11032 0.00222 0.061011 0.3479947 0.0838429 NA NA NA ENSE00001617896_010 ENSE00001617896 010 20 20139961 20140130 + 53 75 42 T C 20140007 561 47 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCACTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159362 20159363 20159363 upstr_intron -7 -0.1132075 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCACTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 2611 207 0.9355218 0.9579887 0.9467553 0.85 0.950626 0.9327401 0.953181 NA NA 0.002781751 0.004807773 0.900313 0.9429605 NA 0.003794762 NA FALSE NA 0.002 0.77 . splice_region_variant&intron_variant LOW C20orf26 HGNC 15872 ENST00000389656 9/21 1 NA ATT T,C 8.236e-06 20:20159363 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 splice_region_variant -0.120282 0.34293 0.07099 0.061011 0.4924289 0.0901438 NA NA 4.06223e-06 ENSE00001617896_011 ENSE00001617896 011 20 20139961 20140130 + 53 75 42 C T 20140010 562 50 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTTCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159365 20159366 20159366 upstr_intron -4 -0.05660377 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTTCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 1141 179 0.9551361 0.9646744 0.9599052 0.85 0.950626 0.9327401 0.953181 NA NA 0.02239598 0.0114934 0.900313 0.9429605 NA 0.01694469 NA FALSE NA 0.001 -0.311 . splice_region_variant&intron_variant LOW C20orf26 HGNC 15872 ENST00000389656 9/21 1 NA TCC C,T 8.236e-06 20:20159366 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 splice_region_variant -0.210439 0.14891 0.01149 0.061011 0.4130983 0.0443366 NA NA 8.1244e-06 ENSE00001617896_014 ENSE00001617896 014 20 20139961 20140130 + 53 75 42 C G 20140024 565 64 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGGCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159379 20159380 20159380 exon 11 0.1466667 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGGCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 49 340 1 0.8140645 0.9070323 0.85 0.950626 0.9327401 0.953181 NA NA 0.06725993 -0.1391164 0.900313 0.9429605 NA -0.03592824 NA FALSE NA 0 -2.082 NA NA NA C20orf26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:20159380 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 missense_variant -0.914669 0.15223 0.02164 0.487112 0.4576583 0 NA NA 4.06223e-06 ENSE00001617896_015 ENSE00001617896 015 20 20139961 20140130 + 53 75 42 A G 20140030 566 70 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGGAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159385 20159386 20159386 exon 17 0.2266667 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGGAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 90 259 0.9959609 0.9998529 0.9979069 0.85 0.950626 0.9327401 0.953181 NA NA 0.0632208 0.04667197 0.900313 0.9429605 NA 0.05494639 NA FALSE NA 0.251 1.974 . 5_prime_UTR_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 10/22 1 NA GAA A,G 8.236e-06 20:20159386 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 missense_variant 0.580494 0.20881 0.13615 0.487112 0.9711002 0 NA NA 4.06184e-06 ENSE00001617896_016 ENSE00001617896 016 20 20139961 20140130 + 53 75 42 G A 20140035 567 75 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTACATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159390 20159391 20159391 exon 22 0.2933333 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTACATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 443 784 0.7934233 0.8025799 0.7980016 0.85 0.950626 0.9327401 0.953181 NA NA -0.1393168 -0.150601 0.900313 0.9429605 NA -0.1449589 NA FALSE NA 0 -1.292 . 5_prime_UTR_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 10/22 1 NA TGC G,A 1.647e-05 20:20159391 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 missense_variant -1.037325 0.10308 0.00735 0.487112 0.6015825 0 NA NA 4.0618e-06 ENSE00001617896_017 ENSE00001617896 017 20 20139961 20140130 + 53 75 42 A G 20140037 568 77 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCGTCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159392 20159393 20159393 exon 24 0.32 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCGTCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 108 105 1 1 1 0.85 0.950626 0.9327401 0.953181 NA NA 0.06725993 0.04681905 0.900313 0.9429605 NA 0.05703949 NA FALSE NA 0 -0.156 . 5_prime_UTR_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 10/22 1 NA CAT A,G 8.236e-06 20:20159393 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 synonymous_variant 0.130721 0.14076 0.01382 0.487112 0.4211302 0 NA NA 4.06167e-06 ENSE00001617896_019 ENSE00001617896 019 20 20139961 20140130 + 53 75 42 G A 20140041 570 81 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCAAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159396 20159397 20159397 exon 28 0.3733333 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCAAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 884 713 0.8022279 0.9285088 0.8653684 0.85 0.950626 0.9327401 0.953181 NA NA -0.1305122 -0.02467212 0.900313 0.9429605 NA -0.07759216 NA FALSE NA 0.005 0.977 . 5_prime_UTR_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 10/22 rs565367792&COSM4096979&COSM4096980 1 NA CGA G,A 8.236e-06 20:20159397 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 missense_variant 0.936225 0.35721 0.0844 0.487112 0.8548676 0 NA NA 4.06177e-06 ENSE00001617896_020 ENSE00001617896 020 20 20139961 20140130 + 53 75 42 C T 20140048 571 88 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGTTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159403 20159404 20159404 exon 35 0.4666667 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGTTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 522 855 0.808293 0.9720269 0.89016 0.85 0.950626 0.9327401 0.953181 NA NA -0.124447 0.01884595 0.900313 0.9429605 NA -0.05280054 NA FALSE NA 0 -2.083 NA NA NA C20orf26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:20159404 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 missense_variant -0.693963 0.10585 0.0026 0.487112 0.4975731 0 NA NA 4.06184e-06 ENSE00001617896_022 ENSE00001617896 022 20 20139961 20140130 + 53 75 42 G A 20140056 573 96 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAACAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159411 20159412 20159412 exon -33 0.5733333 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAACAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 55 26 1 1 1 0.85 0.950626 0.9327401 0.953181 NA NA 0.06725993 0.04681905 0.900313 0.9429605 NA 0.05703949 NA FALSE NA 0 -0.608 . 5_prime_UTR_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 10/22 1 NA AGC G,A 1.647e-05 20:20159412 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 missense_variant -0.805922 0.09864 0.00776 0.487112 0.5322434 0 NA NA 8.12354e-06 ENSE00001617896_023 ENSE00001617896 023 20 20139961 20140130 + 53 75 42 G A 20140068 574 108 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTAGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159423 20159424 20159424 exon -21 0.7333333 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTAGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 86 700 0.004477984 0.01094531 0.007711649 0.85 0.950626 0.9327401 0.953181 NA NA -0.9282621 -0.9422356 0.900313 0.9429605 NA -0.9352489 NA TRUE NA 0 0.053 . 5_prime_UTR_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 10/22 1 NA TGG G,A 8.236e-06 20:20159424 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 missense_variant -0.231864 0.14003 0.02246 0.487112 0.950022 0 NA NA 4.0619e-06 ENSE00001617896_025 ENSE00001617896 025 20 20139961 20140130 + 53 75 42 A G 20140091 576 131 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTGGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159446 20159447 20159447 downstr_intron 3 1.073171 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTGGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 330 2122 0.8471087 0.7823601 0.8147344 0.85 0.950626 0.9327401 0.953181 NA NA -0.08563134 -0.1708209 0.900313 0.9429605 NA -0.1282261 NA FALSE NA 0.524 0.504 . splice_region_variant&intron_variant LOW C20orf26 HGNC 15872 ENST00000389656 10/21 rs372541762 1 NA G:0.0002 G:0 TAG A,G 8.236e-06 20:20159447 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 splice_region_variant 0.533526 0.76579 0.32061 0.061011 0.6035784 0.0904871 NA NA 4.06256e-06 ENSE00001617896_026 ENSE00001617896 026 20 20139961 20140130 + 53 75 42 C T 20140100 577 140 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGATGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159455 20159456 20159456 downstr_intron 12 1.292683 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGATGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 56 318 0.9697301 0.8554421 0.9125861 0.85 0.950626 0.9327401 0.953181 NA NA 0.03699004 -0.09773881 0.900313 0.9429605 NA -0.03037438 NA FALSE NA 0 -4.214 . intron_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 10/21 1 NA ACG C,T 8.237e-06 20:20159456 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 intron_variant -0.16156 0.1107 0.00514 0.061011 0.3893356 0.0448725 NA NA NA ENSE00001617896_027 ENSE00001617896 027 20 20139961 20140130 + 53 75 42 G T 20140103 578 143 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGATGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159458 20159459 20159459 downstr_intron 15 1.365854 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGATGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 173 223 0.9997619 0.972833 0.9862974 0.85 0.950626 0.9327401 0.953181 NA NA 0.06702181 0.019652 0.900313 0.9429605 NA 0.0433369 NA FALSE NA 0.224 1.974 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:20159459 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 intron_variant -0.175261 0.17472 0.24465 0.061011 0.3476768 0.0768651 NA NA 1.62553e-05 ENSE00001617896_028 ENSE00001617896 028 20 20139961 20140130 + 53 75 42 G C 20140103 579 143 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGACGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 20159458 20159459 20159459 downstr_intron 15 1.365854 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGACGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 281 210 1 0.989984 0.994992 0.85 0.950626 0.9327401 0.953181 NA NA 0.06725993 0.03680307 0.900313 0.9429605 NA 0.0520315 NA FALSE NA 0.224 1.974 NA NA NA C20orf26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CFAP61 NA NA NA ENSG00000089101 ENSE00003589138 intron_variant -0.323917 0.17287 0.24546 0.061011 0.3054627 0.0768651 NA NA 1.21915e-05 ENSE00001617896_029 ENSE00001617896 029 20 20139961 20140130 + 53 75 42 C T 20140112 580 152 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGTGTGCCTTCTAGCCACCCC 20159316 20159486 20159467 20159468 20159468 downstr_intron 24 1.585366 TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGTGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC mutant NA NA NA NA NA 113 1030 0.9709085 0.9687017 0.9698051 0.85 0.950626 0.9327401 0.953181 NA NA 0.03816843 0.01552079 0.900313 0.9429605 NA 0.02684461 NA FALSE NA 0.003 -0.899 . intron_variant MODIFIER C20orf26 HGNC 15872 ENST00000389656 10/21 rs376889511 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCG C,T 8.237e-06 20:20159468 CFAP61 HGNC Symbol protein_coding 308188 ENSG00000089101 ENSE00003589138 intron_variant 0.011632 0.13903 0.01274 0.061011 0.5016517 0.0813483 NA NA 8.13233e-06 ENSE00001617896_BRK ENSE00001617896 BRK 20 20139961 20140130 + 53 75 42 A,G; T,T NA NA NA TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCTTGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGCCAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC 20159316 20159486 NA NA NA NA NA NA TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCTTGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGCCAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC TAAACCACTGTAGGTGTCGATTAATTTTCATGTTTTGCTGTCATCATTTCCAGGGAAATATTGCCAGAGAAGCTGCATCCGAGGAAGCTTTAACAGCAGTCCAAAGTGGAAATGTTAGTGAACCGGAGGTAGGGTTTGACGAGGGCCTTTGCGTGCCTTCTAGCCACCCC control NA NA NA NA NA 295 133 0.1407239 0 0.07036195 0.85 0.950626 0.9327401 0.953181 NA NA -0.7920162 -0.953181 0.900313 0.9429605 NA -0.8725986 NA TRUE NA NA NA NA NA NA C20orf26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CFAP61 NA NA NA ENSG00000089101 ENSE00003589138 NA NA NA NA NA NA NA NA NA NA ENSE00001618586_000 ENSE00001618586 000 7 7483171 7483340 - 45 69 56 NA NA NA NA NA GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 NA NA NA NA NA NA TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC natural 23 56 0.998794 0.9966222 0.9977081 401 1708 0.9932109 0.9945196 0.9938653 0.998794 0.9966222 0.9932109 0.9945196 0 0 0 0 0.9977081 0.9938653 0 0 0 FALSE FALSE NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003464806 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001618586_004 ENSE00001618586 004 7 7483171 7483340 - 45 69 56 G A 7483221 430 120 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGAGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443589 7443590 7443590 exon -6 0.9275362 TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCTCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 609 27 0.9991863 1 0.9995931 0.998794 0.9966222 0.9932109 0.9945196 NA NA 0.005975365 0.005480375 0.9977081 0.9938653 NA 0.00572787 NA FALSE NA 0.93 -0.278 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 20/35 1 tolerated(0.29) benign(0.005) NA GGG G,A 8.273e-06 7:7443590 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 missense_variant 1.043647 0.92574 0.40647 0.57788 0.5830951 0 1.893035e-20 FALSE 8.13101e-06 ENSE00001618586_006 ENSE00001618586 006 7 7483171 7483340 - 45 69 56 G A 7483242 432 99 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGATGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443610 7443611 7443611 exon -27 0.6231884 TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCATCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 263 50 1 1 1 0.998794 0.9966222 0.9932109 0.9945196 NA NA 0.006789103 0.005480375 0.9977081 0.9938653 NA 0.006134739 NA FALSE NA 0.691 0.543 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 20/35 rs201689264 1 deleterious(0.02) probably_damaging(0.999) A:0.0014 A:0.0053 A:0 NA A:0 A:0 A:0 A:0.0026 A:0 GGT G,A 0.0002979 7:7443611 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 missense_variant 3.465392 0.70728 0.20357 0.487112 0.997415 0 1.893035e-20 FALSE 0.000272356 ENSE00001618586_008 ENSE00001618586 008 7 7483171 7483340 - 45 69 56 C G 7483247 434 94 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTGCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443615 7443616 7443616 exon -32 0.5507246 TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGCACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 88 10 0.9126182 0.9961012 0.9543597 0.998794 0.9966222 0.9932109 0.9945196 NA NA -0.08059269 0.001581581 0.9977081 0.9938653 NA -0.03950556 NA FALSE NA 0.265 0.507 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 20/35 rs543970789 1 deleterious(0.02) probably_damaging(0.999) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCC C,G 8.274e-06 7:7443616 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 missense_variant 4.511214 0.77695 0.19396 0.487112 0.9964178 0 1.893035e-20 FALSE 4.06501e-06 ENSE00001618586_011 ENSE00001618586 011 7 7483171 7483340 - 45 69 56 G T 7483254 437 87 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGTGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443622 7443623 7443623 exon 31 0.4492754 TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCACAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 336 585 0.9805185 1 0.9902593 0.998794 0.9966222 0.9932109 0.9945196 NA NA -0.01269235 0.005480375 0.9977081 0.9938653 NA -0.003605989 NA FALSE NA 1 1.498 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7443623 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 missense_variant 3.562433 0.97162 0.75435 0.487112 0.9959921 0 1.893035e-20 FALSE 4.06511e-06 ENSE00001618586_012 ENSE00001618586 012 7 7483171 7483340 - 45 69 56 C G 7483267 438 74 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCGGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443635 7443636 7443636 exon 18 0.2608696 TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCCGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 195 146 0.9895708 0.9989152 0.994243 0.998794 0.9966222 0.9932109 0.9945196 NA NA -0.003640059 0.004395591 0.9977081 0.9938653 NA 0.0003777657 NA FALSE NA 0.035 -1.7 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7443636 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 synonymous_variant 1.385818 0.7217 0.02532 0.487112 0.6189169 0 1.893035e-20 FALSE 4.0663e-06 ENSE00001618586_016 ENSE00001618586 016 7 7483171 7483340 - 45 69 56 G A 7483277 442 64 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCACTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443645 7443646 7443646 exon 8 0.115942 TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGTGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 374 90 0.9741622 0.981077 0.9776196 0.998794 0.9966222 0.9932109 0.9945196 NA NA -0.0190487 -0.01344261 0.9977081 0.9938653 NA -0.01624566 NA FALSE NA 0.902 0.945 rs186252649 missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 20/35 rs186252649&COSM1091731 1 tolerated(0.26) probably_damaging(0.997) A:0.0008 A:0 A:0 NA A:0.004 A:0 A:0 CGC G,A 0.0001407 7:7443646 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 missense_variant 4.477429 0.95969 0.41413 0.57788 0.998176 0 1.893035e-20 FALSE 0.000109828 ENSE00001618586_018 ENSE00001618586 018 7 7483171 7483340 - 45 69 56 G A 7483288 444 53 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAAAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443656 7443657 7443657 upstr_intron -4 -0.05357143 TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTTTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 272 139 0.9902806 1 0.9951403 0.998794 0.9966222 0.9932109 0.9945196 NA NA -0.002930272 0.005480375 0.9977081 0.9938653 NA 0.001275052 NA FALSE NA 0.309 0.126 . splice_region_variant&intron_variant LOW COL28A1 HGNC 22442 ENST00000399429 19/34 1 NA AGA G,A 1.655e-05 7:7443657 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 splice_region_variant 1.101373 0.94416 0.15113 0.065574 0.6810836 0.286917 1.893035e-20 FALSE 1.22058e-05 ENSE00001618586_021 ENSE00001618586 021 7 7483171 7483340 - 45 69 56 T G 7483306 447 35 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGGGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443674 7443675 7443675 upstr_intron -22 -0.375 TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACCCATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 260 42 1 1 1 0.998794 0.9966222 0.9932109 0.9945196 NA NA 0.006789103 0.005480375 0.9977081 0.9938653 NA 0.006134739 NA FALSE NA 0 0.134 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 19/34 1 NA GTG T,G 8.274e-06 7:7443675 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 intron_variant 0.082725 0.2145 0.05131 0.065574 0.2395547 0.0442614 1.893035e-20 FALSE 8.16307e-06 ENSE00001618586_022 ENSE00001618586 022 7 7483171 7483340 - 45 69 56 C T 7483317 448 24 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACTCTCCAGTAGACAGACTGTACGTA 7443539 7443709 7443685 7443686 7443686 upstr_intron -33 -0.5714286 TACGTACAGTCTGTCTACTGGAGAGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 142 52 1 1 1 0.998794 0.9966222 0.9932109 0.9945196 NA NA 0.006789103 0.005480375 0.9977081 0.9938653 NA 0.006134739 NA FALSE NA 0 -0.353 rs139502067 intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 19/34 rs139502067 1 T:0.0036 T:0.0136 T:0 NA T:0 T:0 T:0 T:0.0077 T:0.0005 CCC C,T 0.0009431 7:7443686 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 intron_variant -0.015042 0.16614 0.02475 0.065574 0.5592996 0.0456985 1.893035e-20 FALSE 0.000997612 ENSE00001618586_024 ENSE00001618586 024 7 7483171 7483340 - 45 69 56 A G 7483327 450 14 GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATACCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCCTAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGGCAGACTGTACGTA 7443539 7443709 7443695 7443696 7443696 upstr_intron -43 -0.75 TACGTACAGTCTGCCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC mutant NA NA NA NA NA 28 97 1 1 1 0.998794 0.9966222 0.9932109 0.9945196 NA NA 0.006789103 0.005480375 0.9977081 0.9938653 NA 0.006134739 NA FALSE NA 0 -0.907 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 19/34 rs373517937 1 NA GAC A,G 8.272e-06 7:7443696 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003464806 intron_variant 0.021572 0.14119 0.00799 0.065574 0.3103568 0.0456985 1.893035e-20 FALSE 1.23645e-05 ENSE00001618586_BRK ENSE00001618586 BRK 7 7483171 7483340 - 45 69 56 A,G; T,T NA NA NA GGACCAGAACACAGGCTGCTTCCACCAACACTGTCATTTCCATGGCTTGGGGCCAGGCTGTCCTTTTCCAGGTGGTCCTTCTGGGCCTCTTGCTCCCGGAAGCCCCGCTTCTCCAAAGAGAAAATGACACTGATGTGTTAGCTGACCCTCCAGTAGACAGACTGTACGTA 7443539 7443709 NA NA NA NA NA NA TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTTTGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGCCATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC TACGTACAGTCTGTCTACTGGAGGGTCAGCTAACACATCAGTGTCATTTTCTCTAGGGAGAAGCGGGGCTTCCGGGAGCAAGAGGCCCAGAAGGACCACCTGGAAAAGGACAGCCTGGCCCCAAGGTATGGAAATGACAGTGTTGGTGGAAGCAGCCTGTGTTCTGGTCC control NA NA NA NA NA 28 384 0.01095143 0 0.005475714 0.998794 0.9966222 0.9932109 0.9945196 NA NA -0.9822595 -0.9945196 0.9977081 0.9938653 NA -0.9883895 NA TRUE NA NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003464806 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001619723_000 ENSE00001619723 000 7 75692782 75692951 + 51 78 41 NA NA NA NA NA TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 NA NA NA NA NA NA TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT natural 316 618 0.85 0.842822 0.846411 3075 1149 0.9168476 0.7447965 0.830822 0.85 0.842822 0.9168476 0.7447965 0 0 0 0 0.846411 0.830822 0 0 0 FALSE FALSE NA NA NA NA NA MDH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDH2 NA NA NA ENSG00000146701 ENSE00003582996 NA NA NA NA NA NA NA 0.1776051 FALSE NA ENSE00001619723_001 ENSE00001619723 001 7 75692782 75692951 + 51 78 41 G A 75692799 1315 18 TTACAGTGAAAGAGCTTATTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063480 76063481 76063481 upstr_intron -34 -0.6470588 TTACAGTGAAAGAGCTTATTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 26 1143 0.9984063 0.9375563 0.9679813 0.85 0.842822 0.9168476 0.7447965 NA NA 0.08155875 0.1927598 0.846411 0.830822 NA 0.1371593 NA FALSE NA 0 -0.608 . intron_variant MODIFIER MDH2 HGNC 6971 ENST00000315758 5/8 1 NA TGT G,A 2.471e-05 7:76063481 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant 0.101981 0.25122 0.05324 0.256867 0.3975291 0.169509 0.1776051 FALSE 1.21868e-05 ENSE00001619723_003 ENSE00001619723 003 7 75692782 75692951 + 51 78 41 C G 75692804 1317 23 TTACAGTGAAAGAGCTTGTTAAGTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063485 76063486 76063486 upstr_intron -29 -0.5490196 TTACAGTGAAAGAGCTTGTTAAGTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 266 741 0 0 0 0.85 0.842822 0.9168476 0.7447965 NA NA -0.9168476 -0.7447965 0.846411 0.830822 NA -0.830822 NA TRUE NA 0.001 0.399 NA NA NA MDH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:76063486 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant 0.127222 0.25907 0.17123 0.256867 0.6412751 0.253261 0.1776051 FALSE 1.21853e-05 ENSE00001619723_004 ENSE00001619723 004 7 75692782 75692951 + 51 78 41 C T 75692806 1318 25 TTACAGTGAAAGAGCTTGTTAACTTATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063487 76063488 76063488 upstr_intron -27 -0.5098039 TTACAGTGAAAGAGCTTGTTAACTTATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 172 534 0.9941123 0.9626017 0.978357 0.85 0.842822 0.9168476 0.7447965 NA NA 0.07726474 0.2178052 0.846411 0.830822 NA 0.147535 NA FALSE NA 0.012 0.476 . intron_variant MODIFIER MDH2 HGNC 6971 ENST00000315758 5/8 1 NA TCA C,T 1.647e-05 7:76063488 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant 0.389333 0.30159 0.08565 0.256867 0.6596022 0.265271 0.1776051 FALSE 8.12315e-06 ENSE00001619723_005 ENSE00001619723 005 7 75692782 75692951 + 51 78 41 T C 75692808 1319 27 TTACAGTGAAAGAGCTTGTTAACTCACCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063489 76063490 76063490 upstr_intron -25 -0.4705882 TTACAGTGAAAGAGCTTGTTAACTCACCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 325 187 0.8108531 0.9108073 0.8608302 0.85 0.842822 0.9168476 0.7447965 NA NA -0.1059945 0.1660109 0.846411 0.830822 NA 0.03000818 NA FALSE NA 0 -0.279 . intron_variant MODIFIER MDH2 HGNC 6971 ENST00000315758 5/8 1 NA ATC T,C 8.236e-06 7:76063490 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant 0.275381 0.19895 0.0628 0.256867 0.6389224 0.259663 0.1776051 FALSE 8.12282e-06 ENSE00001619723_006 ENSE00001619723 006 7 75692782 75692951 + 51 78 41 G T 75692812 1320 31 TTACAGTGAAAGAGCTTGTTAACTCATCCATCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063493 76063494 76063494 upstr_intron -21 -0.3921569 TTACAGTGAAAGAGCTTGTTAACTCATCCATCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 574 845 1 0.997661 0.9988305 0.85 0.842822 0.9168476 0.7447965 NA NA 0.08315242 0.2528645 0.846411 0.830822 NA 0.1680085 NA FALSE NA 0 -1.397 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:76063494 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant 0.198993 0.23232 0.12354 0.256867 0.6990776 0.267477 0.1776051 FALSE 0.00605933 ENSE00001619723_007 ENSE00001619723 007 7 75692782 75692951 + 51 78 41 G A 75692812 1321 31 TTACAGTGAAAGAGCTTGTTAACTCATCCAACTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063493 76063494 76063494 upstr_intron -21 -0.3921569 TTACAGTGAAAGAGCTTGTTAACTCATCCAACTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 173 1620 0.9963762 0.9977581 0.9970671 0.85 0.842822 0.9168476 0.7447965 NA NA 0.07952862 0.2529616 0.846411 0.830822 NA 0.1662451 NA FALSE NA 0 -1.397 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDH2 NA NA NA ENSG00000146701 ENSE00003582996 intron_variant 0.37452 0.23696 0.14151 0.256867 0.6266547 0.267477 0.1776051 FALSE 1.21836e-05 ENSE00001619723_009 ENSE00001619723 009 7 75692782 75692951 + 51 78 41 C A 75692829 1323 48 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCAACAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063510 76063511 76063511 upstr_intron -4 -0.05882353 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCAACAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 498 270 0.9883253 0.9994342 0.9938797 0.85 0.842822 0.9168476 0.7447965 NA NA 0.07147771 0.2546377 0.846411 0.830822 NA 0.1630577 NA FALSE NA 0.002 -0.591 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:76063511 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 splice_region_variant 1.577339 0.74732 0.2075 0.256867 0.7483515 0.499623 0.1776051 FALSE NA ENSE00001619723_010 ENSE00001619723 010 7 75692782 75692951 + 51 78 41 C G 75692829 1324 48 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCAGCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063510 76063511 76063511 upstr_intron -4 -0.05882353 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCAGCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 613 4977 0.8743062 0.9797098 0.927008 0.85 0.842822 0.9168476 0.7447965 NA NA -0.04254138 0.2349133 0.846411 0.830822 NA 0.09618594 NA FALSE NA 0.002 -0.591 NA NA NA MDH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDH2 NA NA NA ENSG00000146701 ENSE00003582996 splice_region_variant 1.230931 0.74271 0.19543 0.256867 0.7837768 0.499623 0.1776051 FALSE 8.12163e-06 ENSE00001619723_011 ENSE00001619723 011 7 75692782 75692951 + 51 78 41 G C 75692838 1325 57 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTCGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063519 76063520 76063520 exon 6 0.07692308 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTCGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 333 214 0.8 0.8011804 0.8005902 0.85 0.842822 0.9168476 0.7447965 NA NA -0.1168476 0.05638394 0.846411 0.830822 NA -0.03023182 NA FALSE NA 0.995 0.339 . missense_variant MODERATE MDH2 HGNC 6971 ENST00000315758 6/9 1 deleterious(0.03) benign(0.115) NA TGG G,C 8.236e-06 7:76063520 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 missense_variant 2.487127 0.92956 0.92228 0.706548 0.9986432 0 0.1776051 FALSE 2.03037e-05 ENSE00001619723_012 ENSE00001619723 012 7 75692782 75692951 + 51 78 41 C A 75692842 1326 61 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATACAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063523 76063524 76063524 exon 10 0.1282051 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATACAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 149 337 0.9045662 0.8 0.8522831 0.85 0.842822 0.9168476 0.7447965 NA NA -0.01228142 0.05520352 0.846411 0.830822 NA 0.02146105 NA FALSE NA 1 7.241 . missense_variant MODERATE MDH2 HGNC 6971 ENST00000315758 6/9 COSM1638365 1 tolerated(0.07) possibly_damaging(0.861) NA TCC C,A 8.236e-06 7:76063524 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 missense_variant 4.89926 0.96961 0.9904 0.706548 0.9977015 0 0.1776051 FALSE 4.06081e-06 ENSE00001619723_013 ENSE00001619723 013 7 75692782 75692951 + 51 78 41 G C 75692849 1327 68 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCCAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063530 76063531 76063531 exon 17 0.2179487 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCCAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 81 716 0.8896371 0.9262007 0.9079189 0.85 0.842822 0.9168476 0.7447965 NA NA -0.02721046 0.1814042 0.846411 0.830822 NA 0.07709687 NA FALSE NA 1 6.113 NA NA NA MDH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:76063531 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 missense_variant 5.546528 0.97137 0.98755 0.706548 0.9972223 0 0.1776051 FALSE 5.27889e-05 ENSE00001619723_015 ENSE00001619723 015 7 75692782 75692951 + 51 78 41 A G 75692854 1329 73 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCGACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063535 76063536 76063536 exon 22 0.2820513 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCGACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 1589 324 0.9980939 0.9816631 0.9898785 0.85 0.842822 0.9168476 0.7447965 NA NA 0.08124631 0.2368667 0.846411 0.830822 NA 0.1590565 NA FALSE NA 1 5.705 . missense_variant MODERATE MDH2 HGNC 6971 ENST00000315758 6/9 1 tolerated(0.58) benign(0.007) NA CAA A,G 1.647e-05 7:76063536 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 missense_variant 2.029871 0.9645 0.98081 0.706548 0.989668 0 0.1776051 FALSE 8.12143e-06 ENSE00001619723_017 ENSE00001619723 017 7 75692782 75692951 + 51 78 41 G A 75692857 1331 76 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACATCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063538 76063539 76063539 exon 25 0.3205128 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACATCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 100 540 0.7806013 0.7967717 0.7886865 0.85 0.842822 0.9168476 0.7447965 NA NA -0.1362463 0.05197526 0.846411 0.830822 NA -0.0421355 NA FALSE NA 1 9.161 . missense_variant MODERATE MDH2 HGNC 6971 ENST00000315758 6/9 1 tolerated(0.24) benign(0.133) NA CGT G,A 0.000173 7:76063539 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 missense_variant 3.799942 0.97951 0.99414 0.706548 0.9960319 0 0.1776051 FALSE 0.000158368 ENSE00001619723_018 ENSE00001619723 018 7 75692782 75692951 + 51 78 41 T C 75692867 1332 86 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCACTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063548 76063549 76063549 exon 35 0.4487179 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCACTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 58 111 0.9475896 0.9824961 0.9650429 0.85 0.842822 0.9168476 0.7447965 NA NA 0.03074206 0.2376996 0.846411 0.830822 NA 0.1342208 NA FALSE NA 1 7.79 . missense_variant MODERATE MDH2 HGNC 6971 ENST00000315758 6/9 1 tolerated(0.06) probably_damaging(0.928) NA ATT T,C 2.471e-05 7:76063549 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 missense_variant 6.104636 0.97432 0.99208 0.706548 0.9979246 0 0.1776051 FALSE 2.43641e-05 ENSE00001619723_021 ENSE00001619723 021 7 75692782 75692951 + 51 78 41 T C 75692880 1335 99 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCCGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063561 76063562 76063562 exon -31 0.6153846 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCCGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 191 44 0.9196444 1 0.9598222 0.85 0.842822 0.9168476 0.7447965 NA NA 0.002796844 0.2552035 0.846411 0.830822 NA 0.1290002 NA FALSE NA 0.057 -0.522 . synonymous_variant LOW MDH2 HGNC 6971 ENST00000315758 6/9 1 NA CTG T,C 8.236e-06 7:76063562 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 synonymous_variant 0.697142 0.62447 0.45553 0.719381 0.5796343 0 0.1776051 FALSE 4.06068e-06 ENSE00001619723_024 ENSE00001619723 024 7 75692782 75692951 + 51 78 41 T A 75692894 1338 113 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCAACCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063575 76063576 76063576 exon -17 0.7948718 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCAACCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 199 875 0.9571018 0.9425111 0.9498064 0.85 0.842822 0.9168476 0.7447965 NA NA 0.04025417 0.1977147 0.846411 0.830822 NA 0.1189844 NA FALSE NA 1 7.518 . missense_variant MODERATE MDH2 HGNC 6971 ENST00000315758 6/9 1 deleterious(0) probably_damaging(0.977) NA ATC T,A 8.236e-06 7:76063576 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 missense_variant 7.462897 0.97215 0.99098 0.719381 0.9938253 0 0.1776051 FALSE 4.06078e-06 ENSE00001619723_025 ENSE00001619723 025 7 75692782 75692951 + 51 78 41 T G 75692905 1339 124 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCGCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063586 76063587 76063587 exon -6 0.9358974 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCGCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 28 39 0.95 0.95 0.95 0.85 0.842822 0.9168476 0.7447965 NA NA 0.03315242 0.2052035 0.846411 0.830822 NA 0.119178 NA FALSE NA 1 7.518 . missense_variant MODERATE MDH2 HGNC 6971 ENST00000315758 6/9 1 deleterious(0) possibly_damaging(0.761) NA CTC T,G 9.884e-05 7:76063587 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 missense_variant 6.033687 0.97192 0.99103 0.719381 0.9970779 0 0.1776051 FALSE 7.30947e-05 ENSE00001619723_026 ENSE00001619723 026 7 75692782 75692951 + 51 78 41 A G 75692913 1340 132 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTGCACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063594 76063595 76063595 downstr_intron 3 1.075 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTGCACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 784 644 0.0129599 0 0.00647995 0.85 0.842822 0.9168476 0.7447965 NA NA -0.9038877 -0.7447965 0.846411 0.830822 NA -0.8243421 NA TRUE NA 0.008 0.196 . splice_region_variant&intron_variant LOW MDH2 HGNC 6971 ENST00000315758 6/8 1 NA TAC A,G 8.236e-06 7:76063595 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 splice_region_variant 0.251012 0.16247 0.06757 0.099367 0.6488779 0.363046 0.1776051 FALSE 4.06088e-06 ENSE00001619723_027 ENSE00001619723 027 7 75692782 75692951 + 51 78 41 C T 75692916 1341 135 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACATGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063597 76063598 76063598 downstr_intron 6 1.15 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACATGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 1805 622 0.9532731 0.9495513 0.9514122 0.85 0.842822 0.9168476 0.7447965 NA NA 0.03642552 0.2047549 0.846411 0.830822 NA 0.1205902 NA FALSE NA 0 -0.013 . splice_region_variant&intron_variant LOW MDH2 HGNC 6971 ENST00000315758 6/8 1 NA ACG C,T 1.647e-05 7:76063598 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 splice_region_variant 0.471532 0.20073 0.01696 0.093477 0.6740556 0.188321 0.1776051 FALSE 2.03051e-05 ENSE00001619723_028 ENSE00001619723 028 7 75692782 75692951 + 51 78 41 G A 75692917 1342 136 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACACATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063598 76063599 76063599 downstr_intron 7 1.175 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACACATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 35 504 0.9477555 0.9222055 0.9349805 0.85 0.842822 0.9168476 0.7447965 NA NA 0.03090789 0.177409 0.846411 0.830822 NA 0.1041585 NA FALSE NA 0.001 0.692 . splice_region_variant&intron_variant LOW MDH2 HGNC 6971 ENST00000315758 6/8 1 NA CGC G,A 8.236e-06 7:76063599 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 splice_region_variant 0.348632 0.25255 0.09735 0.093477 0.5098457 0.0655072 0.1776051 FALSE 3.65503e-05 ENSE00001619723_029 ENSE00001619723 029 7 75692782 75692951 + 51 78 41 A C 75692919 1343 138 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCCTATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063600 76063601 76063601 downstr_intron 9 1.225 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCCTATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 108 1585 0.990067 0.9696877 0.9798773 0.85 0.842822 0.9168476 0.7447965 NA NA 0.07321937 0.2248912 0.846411 0.830822 NA 0.1490553 NA FALSE NA 0 0.135 . intron_variant MODIFIER MDH2 HGNC 6971 ENST00000315758 6/8 COSM4149349 1 NA CAT A,C 0.0003047 7:76063601 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant -0.329804 0.26076 0.17587 0.093477 0.3989204 0.105157 0.1776051 FALSE 0.000247722 ENSE00001619723_031 ENSE00001619723 031 7 75692782 75692951 + 51 78 41 C G 75692926 1345 145 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACGCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063607 76063608 76063608 downstr_intron 16 1.4 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACGCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 795 52 0.9801689 0.9196125 0.9498907 0.85 0.842822 0.9168476 0.7447965 NA NA 0.06332134 0.174816 0.846411 0.830822 NA 0.1190687 NA FALSE NA 0 -1.225 . intron_variant MODIFIER MDH2 HGNC 6971 ENST00000315758 6/8 1 NA CCC C,G 8.236e-06 7:76063608 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant -0.064499 0.23555 0.1441 0.093477 0.4804543 0.0655072 0.1776051 FALSE 4.06147e-06 ENSE00001619723_032 ENSE00001619723 032 7 75692782 75692951 + 51 78 41 C T 75692927 1346 146 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCTTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 76063608 76063609 76063609 downstr_intron 17 1.425 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCTTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 712 243 0.9666642 0.938993 0.9528286 0.85 0.842822 0.9168476 0.7447965 NA NA 0.0498166 0.1941965 0.846411 0.830822 NA 0.1220066 NA FALSE NA 0 -2.125 rs1637037 intron_variant MODIFIER MDH2 HGNC 6971 ENST00000315758 6/8 1 NA CCT T,T 0.406 7:76063609 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant 0.210587 0.20627 0.04088 0.093477 0.4605884 0.108791 0.1776051 FALSE 0.402769 ENSE00001619723_034 ENSE00001619723 034 7 75692782 75692951 + 51 78 41 G A 75692941 1348 160 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCAAGGTCAGGAT 76063463 76063633 76063622 76063623 76063623 downstr_intron 31 1.775 TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCAAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT mutant NA NA NA NA NA 1180 483 0.9987024 0.9668594 0.9827809 0.85 0.842822 0.9168476 0.7447965 NA NA 0.08185482 0.2220629 0.846411 0.830822 NA 0.1519589 NA FALSE NA 0 -2.481 rs182560941 intron_variant MODIFIER MDH2 HGNC 6971 ENST00000315758 6/8 1 NA CGA G,A 7.413e-05 7:76063623 MDH2 HGNC Symbol protein_coding 19457 ENSG00000146701 ENSE00003582996 intron_variant -0.400599 0.11143 0.0259 0.093477 0.5657453 0.106545 0.1776051 FALSE 4.87714e-05 ENSE00001619723_BRK ENSE00001619723 BRK 7 75692782 75692951 + 51 78 41 A,G; T,T NA NA NA TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCTTGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGCCACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT 76063463 76063633 NA NA NA NA NA NA TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCTTGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGCCACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT TTACAGTGAAAGAGCTTGTTAACTCATCCAGCTTCATACTTTGGTCACCAGGGTTTGGATCCAGCTCGAGTCAACGTCCCTGTCATTGGTGGCCATGCTGGGAAGACCATCATCCCCCTGATCTCTCAGGTACACGCATATGACCCTGTGAGGGGCTTCGAGGTCAGGAT control NA NA NA NA NA 1525 148 0.01188606 0 0.005943029 0.85 0.842822 0.9168476 0.7447965 NA NA -0.9049615 -0.7447965 0.846411 0.830822 NA -0.824879 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDH2 NA NA NA ENSG00000146701 ENSE00003582996 NA NA NA NA NA NA NA 0.1776051 FALSE NA ENSE00001619744_000 ENSE00001619744 000 20 37652282 37652451 + 51 78 41 NA NA NA NA NA TGGTGTGTTGAGGCGGCACTTCGAGCAGTAGTTGTGCTTACTTTGATAAATGCTTCATATATATTGAGCATAGTGAGGTGGTCGCCCTCCTCCACAGCAAATTTACGGTGCACTCGAATCTGGAAAGAATGAAGCAACATTCAGAATTTCACTCTTTGCTGGGTGTGGTG 39023638 39023808 NA NA NA NA NA NA CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA natural 20 18 0.9947843 0.9659518 0.980368 907 2347 0.9795793 0.8294108 0.9044951 0.9947843 0.9659518 0.9795793 0.8294108 0 0 0 0 0.980368 0.9044951 0 0 0 FALSE FALSE NA NA NA NA NA DHX35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX35 NA NA NA ENSG00000101452 ENSE00003481824 NA NA NA NA NA NA NA 9.692738e-11 FALSE NA ENSE00001619744_004 ENSE00001619744 004 20 37652282 37652451 + 51 78 41 A G 37652322 1240 41 TGGTGTGTTGAGGCGGCACTTCGAGCAGTAGTTGTGCTTACTTTGATAAATGCTTCATATATATTGAGCATAGTGAGGTGGTCGCCCTCCTCCACAGCAAATTTACGGTGCACTCGAATCTGGAAAGAACGAAGCAACATTCAGAATTTCACTCTTTGCTGGGTGTGGTG 39023638 39023808 39023678 39023679 39023679 upstr_intron -11 -0.1960784 CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCGTTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA mutant NA NA NA NA NA 16 42 1 1 1 0.9947843 0.9659518 0.9795793 0.8294108 NA NA 0.02042067 0.1705892 0.980368 0.9044951 NA 0.09550495 NA FALSE NA 0 -0.536 . intron_variant MODIFIER DHX35 HGNC 15861 ENST00000252011 16/21 1 NA CAT A,G 8.236e-06 20:39023679 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00003481824 intron_variant 0.917495 0.22714 0.06073 0.156188 0.7244878 0.0957804 9.692738e-11 FALSE 4.0704e-06 ENSE00001619744_007 ENSE00001619744 007 20 37652282 37652451 + 51 78 41 G A 37652337 1243 56 TGGTGTGTTGAGGCGGCACTTCGAGCAGTAGTTGTGCTTACTTTGATAAATGCTTCATATATATTGAGCATAGTGAGGTGGTCGCCCTCCTCCACAGCAAATTTACGGTGCACTTGAATCTGGAAAGAATGAAGCAACATTCAGAATTTCACTCTTTGCTGGGTGTGGTG 39023638 39023808 39023693 39023694 39023694 exon 5 0.06410256 CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCAAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA mutant NA NA NA NA NA 156 245 0.9867039 0.9292919 0.9579979 0.9947843 0.9659518 0.9795793 0.8294108 NA NA 0.007124527 0.0998811 0.980368 0.9044951 NA 0.05350281 NA FALSE NA 1 5.942 . missense_variant MODERATE DHX35 HGNC 15861 ENST00000252011 17/22 rs200374952 1 tolerated(0.38) benign(0.06) NA CGA G,A 1.647e-05 20:39023694 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00003481824 missense_variant 3.947623 0.98977 0.97122 0.732398 0.9966919 0 9.692738e-11 FALSE 1.62772e-05 ENSE00001619744_009 ENSE00001619744 009 20 37652282 37652451 + 51 78 41 C T 37652344 1245 63 TGGTGTGTTGAGGCGGCACTTCGAGCAGTAGTTGTGCTTACTTTGATAAATGCTTCATATATATTGAGCATAGTGAGGTGGTCGCCCTCCTCCACAGCAAATTTACGATGCACTCGAATCTGGAAAGAATGAAGCAACATTCAGAATTTCACTCTTTGCTGGGTGTGGTG 39023638 39023808 39023700 39023701 39023701 exon 12 0.1538462 CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCATCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA mutant NA NA NA NA NA 600 45 0.985302 1 0.992651 0.9947843 0.9659518 0.9795793 0.8294108 NA NA 0.005722618 0.1705892 0.980368 0.9044951 NA 0.08815592 NA FALSE NA 1 2.183 . synonymous_variant LOW DHX35 HGNC 15861 ENST00000252011 17/22 1 NA ACC C,T 8.236e-06 20:39023701 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00003481824 synonymous_variant 1.714185 0.98593 0.915 0.732398 0.6104042 0 9.692738e-11 FALSE 4.06908e-06 ENSE00001619744_012 ENSE00001619744 012 20 37652282 37652451 + 51 78 41 G T 37652346 1248 65 TGGTGTGTTGAGGCGGCACTTCGAGCAGTAGTTGTGCTTACTTTGATAAATGCTTCATATATATTGAGCATAGTGAGGTGGTCGCCCTCCTCCACAGCAAATTTAAGGTGCACTCGAATCTGGAAAGAATGAAGCAACATTCAGAATTTCACTCTTTGCTGGGTGTGGTG 39023638 39023808 39023702 39023703 39023703 exon 14 0.1794872 CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCTTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA mutant NA NA NA NA NA 42 476 0.9663524 0.9979758 0.9821641 0.9947843 0.9659518 0.9795793 0.8294108 NA NA -0.01322697 0.1685651 0.980368 0.9044951 NA 0.07766904 NA FALSE NA 1 9.018 NA NA NA DHX35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:39023703 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00003481824 missense_variant 4.482534 0.99048 0.98976 0.732398 0.9966763 0 9.692738e-11 FALSE NA ENSE00001619744_022 ENSE00001619744 022 20 37652282 37652451 + 51 78 41 T C 37652404 1258 123 TGGTGTGTTGAGGCGGCACTTCGAGCAGTAGTTGTGCTTACTTTGATGAATGCTTCATATATATTGAGCATAGTGAGGTGGTCGCCCTCCTCCACAGCAAATTTACGGTGCACTCGAATCTGGAAAGAATGAAGCAACATTCAGAATTTCACTCTTTGCTGGGTGTGGTG 39023638 39023808 39023760 39023761 39023761 exon -7 0.9230769 CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTCATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA CACCACACCCAGCAAAGAGTGAAATTCTGAATGTTGCTTCATTCTTTCCAGATTCGAGTGCACCGTAAATTTGCTGTGGAGGAGGGCGACCACCTCACTATGCTCAATATATATGAAGCATTTATCAAAGTAAGCACAACTACTGCTCGAAGTGCCGCCTCAACACACCA mutant NA NA NA NA NA 23 127 1 0.9937218 0.9968609 0.9947843 0.9659518 0.9795793 0.8294108 NA NA 0.02042067 0.1643111 0.980368 0.9044951 NA 0.09236587 NA FALSE NA 1 0.344 . synonymous_variant LOW DHX35 HGNC 15861 ENST00000252011 17/22 rs202098597 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TTA T,C 8.236e-06 20:39023761 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00003481824 synonymous_variant 0.59261 0.97006 0.70014 0.732398 0.6315448 0 9.692738e-11 FALSE 4.07388e-06 ENSE00001620494_000 ENSE00001620494 000 10 115385776 115385945 - 30 99 41 NA NA NA NA NA TTGGTGGAGAAAGGGCAGCCCAGGACTCACCCCGCTCTGTAGCTCCTGGCTCTTCTTGGCGTGCTCCATCTGGGAGCTGTCGGTCACGCTGGTGAACTTCAGCTCATCGACCCTCTGCCGGTAGTTTTTCTGTTTCCAAAGGAAAGGGACCCCACAGCATTAGGATTGGG 113626016 113626186 NA NA NA NA NA NA CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA natural NA NA NA NA NA 296 1654 0.988945 0.999977 0.994461 NA NA 0.988945 0.999977 NA NA 0 0 NA 0.994461 NA 0 NA FALSE NA NA NA NA NA NA NRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NRAP NA NA NA ENSG00000197893 ENSE00002489081 NA NA NA NA NA NA NA 2.58649e-31 FALSE NA ENSE00001620494_003 ENSE00001620494 003 10 115385776 115385945 - 30 99 41 T C 115385802 2610 144 TTGGTGGAGAAAGGGCAGCCCAGGACCCACCCCGCTCTGTAGCTCCTGGCTCTTCTTGGCGTGCTCCATCTGGGAGCTGTCGGTCACGCTGGTGAACTTCAGCTCATCGACCCTCTGCCGGTAGTTTTTCTGTTTCCAAAGGAAAGGGACCCCACAGCATTAGGATTGGG 113626016 113626186 113626042 113626043 113626043 downstr_intron 4 1.137931 CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGGGTCCTGGGCTGCCCTTTCTCCACCAA CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA mutant 48 95 0 0 0 NA NA NA NA NA NA NA 0.988945 0.999977 NA NA NA NA NA 0.994461 NA NA NA NA NA 1 4.047 . splice_region_variant&intron_variant LOW NRAP HGNC 7988 ENST00000369360 20/40 1 NA CTC T,C 8.237e-06 10:113626043 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002489081 splice_region_variant 0.251151 0.97969 0.88773 0.06567 0.6673869 0.44064 2.58649e-31 FALSE NA ENSE00001620494_010 ENSE00001620494 010 10 115385776 115385945 - 30 99 41 T C 115385822 2617 124 TTGGTGGAGAAAGGGCAGCCCAGGACTCACCCCGCTCTGTAGCTCCCGGCTCTTCTTGGCGTGCTCCATCTGGGAGCTGTCGGTCACGCTGGTGAACTTCAGCTCATCGACCCTCTGCCGGTAGTTTTTCTGTTTCCAAAGGAAAGGGACCCCACAGCATTAGGATTGGG 113626016 113626186 113626062 113626063 113626063 exon -17 0.8383838 CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCGGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA mutant NA NA NA NA NA 29 36 1 1 1 NA NA 0.988945 0.999977 NA NA 0.01105496 2.301218e-05 NA 0.994461 NA 0.005538986 NA FALSE NA 1 6.844 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 20/41 rs532259152 1 deleterious(0) probably_damaging(0.995) NA CTG T,C 1.647e-05 10:113626063 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002489081 missense_variant 5.663448 0.98817 0.96126 0.487112 0.9983746 0 2.58649e-31 FALSE 1.64898e-05 ENSE00001620494_015 ENSE00001620494 015 10 115385776 115385945 - 30 99 41 T C 115385844 2622 102 TTGGTGGAGAAAGGGCAGCCCAGGACTCACCCCGCTCTGTAGCTCCTGGCTCTTCTTGGCGTGCTCCACCTGGGAGCTGTCGGTCACGCTGGTGAACTTCAGCTCATCGACCCTCTGCCGGTAGTTTTTCTGTTTCCAAAGGAAAGGGACCCCACAGCATTAGGATTGGG 113626016 113626186 113626084 113626085 113626085 exon -39 0.6161616 CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGGTGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA mutant NA NA NA NA NA 94 29 1 1 1 NA NA 0.988945 0.999977 NA NA 0.01105496 2.301218e-05 NA 0.994461 NA 0.005538986 NA FALSE NA 1 5.148 . missense_variant MODERATE NRAP HGNC 7988 ENST00000369360 20/41 1 tolerated(0.11) benign(0.06) NA ATC T,C 1.647e-05 10:113626085 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002489081 missense_variant 1.784935 0.98814 0.95661 0.487112 0.9869132 0 2.58649e-31 FALSE 1.23405e-05 ENSE00001620494_019 ENSE00001620494 019 10 115385776 115385945 - 30 99 41 C A 115385862 2626 84 TTGGTGGAGAAAGGGCAGCCCAGGACTCACCCCGCTCTGTAGCTCCTGGCTCTTCTTGGCGTGCTCCATCTGGGAGCTGTCGGTCAAGCTGGTGAACTTCAGCTCATCGACCCTCTGCCGGTAGTTTTTCTGTTTCCAAAGGAAAGGGACCCCACAGCATTAGGATTGGG 113626016 113626186 113626102 113626103 113626103 exon 43 0.4343434 CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCTTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA CCCAATCCTAATGCTGTGGGGTCCCTTTCCTTTGGAAACAGAAAAACTACCGGCAGAGGGTCGATGAGCTGAAGTTCACCAGCGTGACCGACAGCTCCCAGATGGAGCACGCCAAGAAGAGCCAGGAGCTACAGAGCGGGGTGAGTCCTGGGCTGCCCTTTCTCCACCAA mutant NA NA NA NA NA 135 441 0.9789109 0.9991323 0.9890216 NA NA 0.988945 0.999977 NA NA -0.01003416 -0.0008446501 NA 0.994461 NA -0.005439405 NA FALSE NA 1 5.002 NA NA NA NRAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:113626103 NRAP HGNC Symbol protein_coding 75411 ENSG00000197893 ENSE00002489081 missense_variant 4.594995 0.99477 0.97454 0.487112 0.9982345 0 2.58649e-31 FALSE 4.13743e-06 ENSE00001620643_000 ENSE00001620643 000 1 39715641 39715810 + 45 90 35 NA NA NA NA NA ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 NA NA NA NA NA NA ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG natural 13 13 0.9949663 1 0.9974832 3250 3619 0.976583 0.9655305 0.9710568 0.9949663 1 0.976583 0.9655305 0 0 0 0 0.9974832 0.9710568 0 0 0 FALSE FALSE NA NA NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MACF1 NA NA NA ENSG00000127603 ENSE00003466663 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001620643_BRK ENSE00001620643 BRK 1 39715641 39715810 + 45 90 35 A,G; T,T NA NA NA ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACTTGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGCCGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 NA NA NA NA NA NA ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACTTGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGCCGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG control NA NA NA NA NA 922 1860 0.002286938 0.0002717752 0.001279357 0.9949663 1 0.976583 0.9655305 NA NA -0.9742961 -0.9652587 0.9974832 0.9710568 NA -0.9697774 NA TRUE NA NA NA NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MACF1 NA NA NA ENSG00000127603 ENSE00003466663 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001620741_000 ENSE00001620741 000 1 103435722 103435891 - 53 54 63 NA NA NA NA NA ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG 102970165 102970335 NA NA NA NA NA NA ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG natural 14 19 1 1 1 1900 3390 0.9955625 0.9228112 0.9591869 1 1 0.9955625 0.9228112 0 0 0 0 1 0.9591869 0 0 0 FALSE FALSE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001620741 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001620741_001 ENSE00001620741 001 1 103435722 103435891 - 53 54 63 A T 103435751 2877 141 CTGATGAGGTGCTAGAGATGGAAATTTTTTATAAGAGTAACAAGGTCACTTACAGTCTCCCCACGTTGCCCAGGGTGTCCTGGCAGCCCATCCTTCCCAGGTGGTCCCTGAAATTACAAATATTAAATACCACATGTCATAAATATTTAATTATTTTATAGTCTAAATGT 102970165 102970335 102970194 102970195 102970195 downstr_intron 24 1.461538 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATAAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 187 251 1 0.9915373 0.9957686 1 1 0.9955625 0.9228112 NA NA 0.004437456 0.06872612 1 0.9591869 NA 0.03658179 NA FALSE NA 0.015 0.812 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA TAA A,T 8.237e-06 1:102970195 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 intron_variant 0.070892 0.22509 0.07791 0.053691 0.4742948 0.0448725 0.9999806 TRUE 1.62624e-05 ENSE00001620741_002 ENSE00001620741 002 1 103435722 103435891 - 53 54 63 A G 103435764 2878 128 CTGATGAGGTGCTAGAGATGGAAATTTTTAATAAGAGTAACAGGGTCACTTACAGTCTCCCCACGTTGCCCAGGGTGTCCTGGCAGCCCATCCTTCCCAGGTGGTCCCTGAAATTACAAATATTAAATACCACATGTCATAAATATTTAATTATTTTATAGTCTAAATGT 102970165 102970335 102970207 102970208 102970208 downstr_intron 11 1.211538 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCCTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 228 147 0.9910734 1 0.9955367 1 1 0.9955625 0.9228112 NA NA -0.004489107 0.07718883 1 0.9591869 NA 0.03634986 NA FALSE NA 0 -1.432 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA AAG A,G 8.236e-06 1:102970208 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 intron_variant 0.230345 0.14086 0.00246 0.053691 0.699706 0.0448725 0.9999806 TRUE 4.0627e-06 ENSE00001620741_003 ENSE00001620741 003 1 103435722 103435891 - 53 54 63 G A 103435766 2879 126 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGATCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG 102970165 102970335 102970209 102970210 102970210 downstr_intron 9 1.173077 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGATCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 147 20 0.9863673 1 0.9931837 1 1 0.9955625 0.9228112 NA NA -0.009195239 0.07718883 1 0.9591869 NA 0.0339968 NA FALSE NA 0.003 0.75 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA GGT G,A 8.236e-06 1:102970210 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 intron_variant 0.546668 0.21258 0.04452 0.053691 0.5925736 0.0952943 0.9999806 TRUE 8.12566e-06 ENSE00001620741_004 ENSE00001620741 004 1 103435722 103435891 - 53 54 63 T G 103435767 2880 125 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGCCCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG 102970165 102970335 102970210 102970211 102970211 downstr_intron 8 1.153846 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGCCCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 829 15 0.922599 0.8165692 0.8695841 1 1 0.9955625 0.9228112 NA NA -0.07296356 -0.106242 1 0.9591869 NA -0.08960278 NA FALSE NA 0.002 0.849 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA GTC T,G 1.647e-05 1:102970211 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 splice_region_variant 0.289784 0.22417 0.0473 0.053691 0.5949743 0.094275 0.9999806 TRUE 8.12552e-06 ENSE00001620741_005 ENSE00001620741 005 1 103435722 103435891 - 53 54 63 C T 103435778 2881 114 CTGATGAGGTGCTAGAGATGGAAATTTTTAATAAGAGTAACAAGGTCACTTACAGTTTCCCCACGTTGCCCAGGGTGTCCTGGCAGCCCATCCTTCCCAGGTGGTCCCTGAAATTACAAATATTAAATACCACATGTCATAAATATTTAATTATTTTATAGTCTAAATGT 102970165 102970335 102970221 102970222 102970222 exon -4 0.9444444 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAAACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 433 35 1 0.9954542 0.9977271 1 1 0.9955625 0.9228112 NA NA 0.004437456 0.07264304 1 0.9591869 NA 0.03854025 NA FALSE NA 0.481 -0.498 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 35/65 COSM352782&COSM352783 1 NA TCT C,T 2.471e-05 1:102970222 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 synonymous_variant 1.988864 0.9524 0.18304 0.706298 0.5094463 0 0.9999806 TRUE 8.12414e-06 ENSE00001620741_006 ENSE00001620741 006 1 103435722 103435891 - 53 54 63 G A 103435795 2882 97 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACTCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG 102970165 102970335 102970238 102970239 102970239 exon -21 0.6296296 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACTCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 161 858 1 0.9937522 0.9968761 1 1 0.9955625 0.9228112 NA NA 0.004437456 0.07094106 1 0.9591869 NA 0.03768926 NA FALSE NA 1 9.593 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 35/65 1 unknown(0) NA GGG G,A 8.236e-06 1:102970239 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 missense_variant 4.950781 0.99634 0.99721 0.706298 0.9972311 0 0.9999806 TRUE 4.0619e-06 ENSE00001620741_008 ENSE00001620741 008 1 103435722 103435891 - 53 54 63 T A 103435823 2884 69 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCTCCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG 102970165 102970335 102970266 102970267 102970267 exon 6 0.1111111 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCTCCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 1541 150 1 1 1 1 1 0.9955625 0.9228112 NA NA 0.004437456 0.07718883 1 0.9591869 NA 0.04081314 NA FALSE NA 0.444 -0.346 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 35/65 1 NA GTG T,A 8.237e-06 1:102970267 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 synonymous_variant 1.314804 0.952 0.6288 0.706298 0.6713721 0 0.9999806 TRUE 4.06481e-06 ENSE00001620741_009 ENSE00001620741 009 1 103435722 103435891 - 53 54 63 G C 103435824 2885 68 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACGACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG 102970165 102970335 102970267 102970268 102970268 exon 5 0.09259259 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACGACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 359 1009 1 0.8112485 0.9056242 1 1 0.9955625 0.9228112 NA NA 0.004437456 -0.1115627 1 0.9591869 NA -0.05356262 NA FALSE NA 1 9.593 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 35/65 1 unknown(0) NA TGG G,C 2.471e-05 1:102970268 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 missense_variant 3.790543 0.99724 0.99879 0.706298 0.9891853 0 0.9999806 TRUE 2.03366e-05 ENSE00001620741_010 ENSE00001620741 010 1 103435722 103435891 - 53 54 63 G A 103435825 2886 67 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGATCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG 102970165 102970335 102970268 102970269 102970269 exon 4 0.07407407 ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGATCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG mutant NA NA NA NA NA 158 119 1 1 1 1 1 0.9955625 0.9228112 NA NA 0.004437456 0.07718883 1 0.9591869 NA 0.04081314 NA FALSE NA 1 9.593 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 35/65 rs371076582 1 unknown(0) NA A:0 A:0.0001 GGT G,A 8.237e-06 1:102970269 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001620741 missense_variant 4.075256 0.99706 0.9986 0.706298 0.9971271 0 0.9999806 TRUE 4.06488e-06 ENSE00001620741_BRK ENSE00001620741 BRK 1 103435722 103435891 - 53 54 63 A,G; T,T NA NA NA ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCTTGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTCCAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG 102970165 102970335 NA NA NA NA NA NA ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCTTGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTCCAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG ACATTTAGACTATAAAATAATTAAATATTTATGACATGTGGTATTTAATATTTGTAATTTCAGGGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACTGTAAGTGACCTTGTTACTCTTATTAAAAATTTCCATCTCTAGCACCTCATCAG control NA NA NA NA NA 152 155 0 0 0 1 1 0.9955625 0.9228112 NA NA -0.9955625 -0.9228112 1 0.9591869 NA -0.9591869 NA TRUE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001620741 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001620747_000 ENSE00001620747 000 17 10206481 10206650 - 32 96 42 NA NA NA NA NA TGTGGGCACTGCCGGGGACCTCCTGTGCTTACCGCCTCCTCAGCCTGCCTCTTGTAAGACTTCACTTTGGCCTGCAGCTTGTCCACCAGGTCCTGGAGCCTAAGGATATTCTTGTGGTCCTCCTCAGCCTGCAAACAGAGTACACGTGGCAGGGGCCCGCAAACCTATGG 10303163 10303333 NA NA NA NA NA NA CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGGCCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGGCCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA natural NA NA NA NA NA 126 139 0.9926208 0.9858639 0.9892423 NA NA 0.9926208 0.9858639 NA NA 0 0 NA 0.9892423 NA 0 NA FALSE NA NA NA NA NA NA MYH13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYH13 NA NA NA ENSG00000006788 ENSE00001620747 NA NA NA NA NA NA NA 1.88616e-29 FALSE NA ENSE00001620851_000 ENSE00001620851 000 15 70952443 70952612 - 47 66 57 NA NA NA NA NA ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 NA NA NA NA NA NA AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT natural 80 119 0.9975172 0.9987672 0.9981422 11660 9257 0.943689 0.9783107 0.9609999 0.9975172 0.9987672 0.943689 0.9783107 0 0 0 0 0.9981422 0.9609999 0 0 0 FALSE FALSE NA NA NA NA NA UACA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UACA NA NA NA ENSG00000137831 ENSE00003617095 NA NA NA NA NA NA NA 2.350352e-17 FALSE NA ENSE00001620851_001 ENSE00001620851 001 15 70952443 70952612 - 47 66 57 A T 70952457 1621 156 ATTATCTCTAAAGCTATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660117 70660118 70660118 downstr_intron 33 1.717391 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATAGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 641 1263 0.9886539 0.9932044 0.9909291 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.04496481 0.01489373 0.9981422 0.9609999 NA 0.02992927 NA FALSE NA 0 -0.262 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/2 1 NA CAA A,T 8.237e-06 15:70660118 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 intron_variant 1.688497 0.1464 0.04158 0.164513 0.828936 0.128316 2.350352e-17 FALSE 4.40699e-06 ENSE00001620851_002 ENSE00001620851 002 15 70952443 70952612 - 47 66 57 T C 70952461 1622 152 ATTATCTCTAAAGCAATACTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660121 70660122 70660122 downstr_intron 29 1.630435 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAGTATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 14 10 0.9745316 1 0.9872658 765 929 0.9922233 0.9980091 0.9951162 0.9975172 0.9987672 0.943689 0.9783107 -0.02298556 0.00123276 0.04853429 0.0196984 0.9981422 0.9609999 -0.0108764 0.03411635 0.04499275 FALSE FALSE 0 0.138 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/2 1 NA ATT T,C 8.237e-06 15:70660122 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 intron_variant 1.689087 0.15503 0.02664 0.164513 0.8224133 0.129676 2.350352e-17 FALSE 4.39715e-06 ENSE00001620851_004 ENSE00001620851 004 15 70952443 70952612 - 47 66 57 T C 70952466 1624 147 ATTATCTCTAAAGCAATATTCTTCCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660126 70660127 70660127 downstr_intron 24 1.521739 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGGAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 2107 1012 0.9717181 0.9977673 0.9847427 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.02802902 0.01945658 0.9981422 0.9609999 NA 0.0237428 NA FALSE NA 0 -0.222 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/2 rs577752517 1 NA TTC T,C 1.647e-05 15:70660127 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 intron_variant 1.874787 0.17393 0.06138 0.164513 0.8422621 0.128316 2.350352e-17 FALSE 2.14985e-05 ENSE00001620851_005 ENSE00001620851 005 15 70952443 70952612 - 47 66 57 A G 70952470 1625 143 ATTATCTCTAAAGCAATATTCTTTCCAGAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660130 70660131 70660131 downstr_intron 20 1.434783 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTCTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1633 10933 0.9912558 0.9821512 0.9867035 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.04756673 0.003840503 0.9981422 0.9609999 NA 0.02570362 NA FALSE NA 0 -0.212 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/2 rs535336219 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAA A,G 8.237e-06 15:70660131 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 intron_variant 1.86803 0.14663 0.03756 0.164513 0.7957629 0.128316 2.350352e-17 FALSE NA ENSE00001620851_007 ENSE00001620851 007 15 70952443 70952612 - 47 66 57 T C 70952479 1627 134 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGCAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660139 70660140 70660140 downstr_intron 11 1.23913 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTGCTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 2880 1839 0.9949761 0.9937638 0.9943699 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.05128705 0.01545307 0.9981422 0.9609999 NA 0.03337006 NA FALSE NA 0 -2.708 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/2 rs369454622 1 NA C:0 C:0.0001 GTA T,C 9.884e-05 15:70660140 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 intron_variant 1.772787 0.06616 0.00798 0.164513 0.6522755 0.128316 2.350352e-17 FALSE 0.000117367 ENSE00001620851_008 ENSE00001620851 008 15 70952443 70952612 - 47 66 57 T C 70952482 1628 131 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGCTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660142 70660143 70660143 downstr_intron 8 1.173913 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAGCTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 898 890 0.9944796 0.9924771 0.9934783 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.05079052 0.01416637 0.9981422 0.9609999 NA 0.03247844 NA FALSE NA 0 -0.419 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW UACA HGNC 15947 ENST00000560831 2/2 1 NA GTT T,C 8.237e-06 15:70660143 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 splice_region_variant 0.880814 0.13779 0.03205 0.164513 0.7282437 0.128316 2.350352e-17 FALSE NA ENSE00001620851_009 ENSE00001620851 009 15 70952443 70952612 - 47 66 57 T C 70952483 1629 130 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTCCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660143 70660144 70660144 downstr_intron 7 1.152174 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGGACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1269 1472 0.9931907 0.9827563 0.9879735 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.04950162 0.00444557 0.9981422 0.9609999 NA 0.02697359 NA FALSE NA 0 -0.007 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW UACA HGNC 15947 ENST00000560831 2/2 1 NA TTC T,C 8.237e-06 15:70660144 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 splice_region_variant 0.793612 0.12624 0.02922 0.164513 0.7095309 0.128316 2.350352e-17 FALSE 8.24049e-06 ENSE00001620851_010 ENSE00001620851 010 15 70952443 70952612 - 47 66 57 T C 70952487 1630 126 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTCACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660147 70660148 70660148 downstr_intron 3 1.065217 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTGAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 357 286 0.02195026 0 0.01097513 4280 1462 0.2217681 0.2613319 0.24155 0.9975172 0.9987672 0.943689 0.9783107 -0.9755669 -0.9987672 -0.721921 -0.7169788 0.9981422 0.9609999 -0.9871671 -0.7194499 0.2677172 TRUE TRUE 1 1.422 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW UACA HGNC 15947 ENST00000560831 2/2 1 NA TTA T,C 1.647e-05 15:70660148 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 splice_region_variant 1.228456 0.60144 0.32382 0.164513 0.8350277 0.192357 2.350352e-17 FALSE 4.10485e-06 ENSE00001620851_011 ENSE00001620851 011 15 70952443 70952612 - 47 66 57 C T 70952489 1631 124 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTATCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660149 70660150 70660150 downstr_intron 1 1.021739 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGATAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 450 569 0.003523974 0.08533897 0.04443147 0.9975172 0.9987672 0.943689 0.9783107 NA NA -0.9401651 -0.8929717 0.9981422 0.9609999 NA -0.9165684 NA TRUE NA 1 7.175 . splice_donor_variant&non_coding_transcript_variant HIGH UACA HGNC 15947 ENST00000560831 2/2 1 NA ACC C,T 8.237e-06 15:70660150 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 splice_donor_variant 5.867145 0.99257 0.98917 0.164513 0.9956881 0.97605 2.350352e-17 FALSE 4.09923e-06 ENSE00001620851_012 ENSE00001620851 012 15 70952443 70952612 - 47 66 57 A G 70952496 1632 117 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCGGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660156 70660157 70660157 exon -7 0.9090909 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCCGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1928 1822 0.9786428 0.9948255 0.9867341 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.03495371 0.01651481 0.9981422 0.9609999 NA 0.02573426 NA FALSE NA 0.995 0.472 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/3 1 NA CAG A,G 6.589e-05 15:70660157 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 synonymous_variant 1.058421 0.96236 0.83076 0.631515 0.6982214 0 2.350352e-17 FALSE 6.52039e-05 ENSE00001620851_013 ENSE00001620851 013 15 70952443 70952612 - 47 66 57 A G 70952505 1633 108 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGGAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660165 70660166 70660166 exon -16 0.7727273 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTCCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 45 19 0.9792822 1 0.9896411 1873 429 0.9991808 0.9992871 0.999234 0.9975172 0.9987672 0.943689 0.9783107 -0.01823494 0.00123276 0.05549179 0.02097644 0.9981422 0.9609999 -0.00850109 0.03823412 0.04673521 FALSE FALSE 0.322 -0.073 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/3 1 NA GAA A,G 1.647e-05 15:70660166 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 synonymous_variant 0.154247 0.90096 0.50735 0.631515 0.7465729 0 2.350352e-17 FALSE 2.84972e-05 ENSE00001620851_014 ENSE00001620851 014 15 70952443 70952612 - 47 66 57 T G 70952513 1634 100 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGGCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660173 70660174 70660174 exon -24 0.6515152 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGCCACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 11 13 0.9970208 0.9894268 0.9932238 4143 2151 0.967939 0.9842218 0.9760804 0.9975172 0.9987672 0.943689 0.9783107 -0.0004963132 -0.009340395 0.02424994 0.005911084 0.9981422 0.9609999 -0.004918354 0.01508051 0.01999887 FALSE FALSE 1 5.527 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/3 rs201974563 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GTC T,G 8.237e-06 15:70660174 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 missense_variant 6.031118 0.98423 0.97924 0.631515 0.996749 0 2.350352e-17 FALSE 8.13994e-06 ENSE00001620851_015 ENSE00001620851 015 15 70952443 70952612 - 47 66 57 C T 70952515 1635 98 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCTGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660175 70660176 70660176 exon -26 0.6212121 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCAGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 275 697 0.8047199 0.8150593 0.8098896 0.9975172 0.9987672 0.943689 0.9783107 NA NA -0.1389692 -0.1632514 0.9981422 0.9609999 NA -0.1511103 NA FALSE NA 1 7.175 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/3 1 NA CCG C,T 1.647e-05 15:70660176 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 missense_variant 8.13792 0.99269 0.98925 0.631515 0.9995707 0 2.350352e-17 FALSE 2.03566e-05 ENSE00001620851_016 ENSE00001620851 016 15 70952443 70952612 - 47 66 57 G A 70952516 1636 97 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCAATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660176 70660177 70660177 exon -27 0.6060606 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATTGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 956 2257 0.9891774 0.9940698 0.9916236 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.04548834 0.01575913 0.9981422 0.9609999 NA 0.03062373 NA FALSE NA 1 4.894 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/3 1 NA CGA G,A 8.237e-06 15:70660177 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 missense_variant 7.97263 0.98783 0.97486 0.631515 0.9989851 0 2.350352e-17 FALSE 1.62856e-05 ENSE00001620851_017 ENSE00001620851 017 15 70952443 70952612 - 47 66 57 G T 70952537 1637 76 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTTGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660197 70660198 70660198 exon 19 0.2878788 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACAAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1181 1052 0.9788218 0.97088 0.9748509 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.03513274 -0.007430713 0.9981422 0.9609999 NA 0.01385101 NA FALSE NA 1 6.708 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/3 1 NA TGG G,T 8.237e-06 15:70660198 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 missense_variant 5.033021 0.98491 0.94842 0.631515 0.9954795 0 2.350352e-17 FALSE 4.07468e-06 ENSE00001620851_018 ENSE00001620851 018 15 70952443 70952612 - 47 66 57 T C 70952544 1638 69 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGCCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660204 70660205 70660205 exon 12 0.1818182 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGGCAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 58 25 0.85 0.85 0.85 1351 3487 0.9031408 0.9286427 0.9158918 0.9975172 0.9987672 0.943689 0.9783107 -0.1475172 -0.1487672 -0.04054822 -0.04966799 0.9981422 0.9609999 -0.1481422 -0.04510811 0.1030341 FALSE FALSE 1 0.986 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:70660205 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 synonymous_variant 0.345296 0.96602 0.62194 0.631515 0.6337338 0 2.350352e-17 FALSE 4.07548e-06 ENSE00001620851_019 ENSE00001620851 019 15 70952443 70952612 - 47 66 57 T A 70952544 1639 69 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGACTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660204 70660205 70660205 exon 12 0.1818182 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGTCAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 57 159 0.85 0.85 0.85 1701 1919 0.7992783 0.8098224 0.8045504 0.9975172 0.9987672 0.943689 0.9783107 -0.1475172 -0.1487672 -0.1444107 -0.1684883 0.9981422 0.9609999 -0.1481422 -0.1564495 0.008307312 FALSE FALSE 1 0.986 NA NA NA UACA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UACA NA NA NA ENSG00000137831 ENSE00003617095 missense_variant 4.881509 0.97368 0.88047 0.631515 0.9978399 0 2.350352e-17 FALSE 4.07548e-06 ENSE00001620851_020 ENSE00001620851 020 15 70952443 70952612 - 47 66 57 T C 70952548 1640 65 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGCCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660208 70660209 70660209 exon 8 0.1212121 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGGCAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1626 2496 0.9917778 0.980929 0.9863534 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.04808875 0.002618303 0.9981422 0.9609999 NA 0.02535353 NA FALSE NA 1 4.578 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 2/3 1 NA GTC T,C 8.237e-06 15:70660209 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 missense_variant 4.24796 0.98386 0.96974 0.631515 0.9947793 0 2.350352e-17 FALSE 4.07222e-06 ENSE00001620851_021 ENSE00001620851 021 15 70952443 70952612 - 47 66 57 C T 70952555 1641 58 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATTCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660215 70660216 70660216 exon 1 0.01515152 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGAATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1031 371 0.8012496 0.8135597 0.8074047 0.9975172 0.9987672 0.943689 0.9783107 NA NA -0.1424394 -0.164751 0.9981422 0.9609999 NA -0.1535952 NA FALSE NA 1 5.487 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW UACA HGNC 15947 ENST00000560831 2/3 1 NA TCC C,T 8.237e-06 15:70660216 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 missense_variant 5.777777 0.98704 0.96433 0.631515 0.9989706 0 2.350352e-17 FALSE 4.07415e-06 ENSE00001620851_022 ENSE00001620851 022 15 70952443 70952612 - 47 66 57 T C 70952557 1642 56 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCCAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660217 70660218 70660218 upstr_intron -2 -0.01754386 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTGGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1022 1079 0.02382384 0.01670747 0.02026566 0.9975172 0.9987672 0.943689 0.9783107 NA NA -0.9198652 -0.9616032 0.9981422 0.9609999 NA -0.9407342 NA TRUE NA 1 7.373 . splice_acceptor_variant&non_coding_transcript_variant HIGH UACA HGNC 15947 ENST00000560831 1/2 1 NA CTA T,C 8.237e-06 15:70660218 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 splice_acceptor_variant 4.097364 0.9836 0.99422 0.160901 0.9818099 0.812231 2.350352e-17 FALSE 4.07671e-06 ENSE00001620851_024 ENSE00001620851 024 15 70952443 70952612 - 47 66 57 A C 70952558 1644 55 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTCGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660218 70660219 70660219 upstr_intron -3 -0.03508772 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCGAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 116 95 0.1997119 0 0.09985595 2581 78 0.005047182 0.008325566 0.006686374 0.9975172 0.9987672 0.943689 0.9783107 -0.7978053 -0.9987672 -0.9386419 -0.9699851 0.9981422 0.9609999 -0.8982863 -0.9543135 0.05602725 TRUE TRUE 0.402 0.781 NA NA NA UACA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:70660219 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 splice_region_variant 0.645209 0.23399 0.62727 0.075938 0.7522383 0.220653 2.350352e-17 FALSE 4.07644e-06 ENSE00001620851_027 ENSE00001620851 027 15 70952443 70952612 - 47 66 57 T C 70952573 1647 40 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGACGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660233 70660234 70660234 upstr_intron -18 -0.2982456 AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCGTCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 11 13 1 1 1 1450 1944 0.9462041 0.9994274 0.9728157 0.9975172 0.9987672 0.943689 0.9783107 0.002482848 0.00123276 0.002515037 0.02111672 0.9981422 0.9609999 0.001857804 0.01181588 0.009958073 FALSE FALSE 0 -1.705 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 1/2 1 NA ATG T,C 8.237e-06 15:70660234 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 non_coding_transcript_exon_variant 0.162996 0.13534 0.02473 0.069865 0.5068483 0.0540496 2.350352e-17 FALSE 8.20647e-06 ENSE00001620851_028 ENSE00001620851 028 15 70952443 70952612 - 47 66 57 G C 70952584 1648 29 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTCACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660244 70660245 70660245 upstr_intron -29 -0.4912281 AAAGTTTGGAAATGTGAACGCTGATAGTGACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 28 11 1 1 1 768 2684 0.9871263 0.9989112 0.9930187 0.9975172 0.9987672 0.943689 0.9783107 0.002482848 0.00123276 0.04343722 0.02060052 0.9981422 0.9609999 0.001857804 0.03201887 0.03016107 FALSE FALSE 0 0.66 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 1/2 rs376099768 1 NA C:0 C:0.0001 TGA G,C 8.237e-06 15:70660245 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 non_coding_transcript_exon_variant 0.026744 0.24749 0.1021 0.069865 0.4019424 0.591329 2.350352e-17 FALSE 2.49341e-05 ENSE00001620851_029 ENSE00001620851 029 15 70952443 70952612 - 47 66 57 T A 70952587 1649 26 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACAATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660247 70660248 70660248 upstr_intron -32 -0.5438596 AAAGTTTGGAAATGTGAACGCTGATTGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 2913 2250 0.9673423 0.9601998 0.963771 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.02365323 -0.01811089 0.9981422 0.9609999 NA 0.002771169 NA FALSE NA 0 -0.274 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 1/2 rs375116011 1 NA A:0.0002 A:0 CTA T,A 8.237e-06 15:70660248 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 non_coding_transcript_exon_variant 0.622785 0.19175 0.03772 0.069865 0.7225865 0.0540496 2.350352e-17 FALSE 4.15707e-06 ENSE00001620851_030 ENSE00001620851 030 15 70952443 70952612 - 47 66 57 T C 70952589 1650 24 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTACCAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660249 70660250 70660250 upstr_intron -34 -0.5789474 AAAGTTTGGAAATGTGAACGCTGGTAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant 16 19 0.9876071 0.9945855 0.9910963 2053 2070 0.9625035 0.9865222 0.9745128 0.9975172 0.9987672 0.943689 0.9783107 -0.009910063 -0.004181735 0.01881445 0.008211484 0.9981422 0.9609999 -0.007045899 0.01351297 0.02055887 FALSE FALSE 0 0.412 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:70660250 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 non_coding_transcript_exon_variant 0.27186 0.15095 0.02203 0.069865 0.596085 0.0540496 2.350352e-17 FALSE 4.16382e-06 ENSE00001620851_031 ENSE00001620851 031 15 70952443 70952612 - 47 66 57 T A 70952589 1651 24 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTAACAGCGTTCACATTTCCAAACTTT 70660103 70660273 70660249 70660250 70660250 upstr_intron -34 -0.5789474 AAAGTTTGGAAATGTGAACGCTGTTAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1346 1349 0.998406 0.9991206 0.9987633 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.05471697 0.02080993 0.9981422 0.9609999 NA 0.03776345 NA FALSE NA 0 0.412 NA NA NA UACA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UACA NA NA NA ENSG00000137831 ENSE00003617095 non_coding_transcript_exon_variant 0.525346 0.16067 0.02504 0.069865 0.7860242 0.0540496 2.350352e-17 FALSE 8.32764e-06 ENSE00001620851_032 ENSE00001620851 032 15 70952443 70952612 - 47 66 57 G C 70952592 1652 21 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCACCGTTCACATTTCCAAACTTT 70660103 70660273 70660252 70660253 70660253 upstr_intron -37 -0.6315789 AAAGTTTGGAAATGTGAACGGTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 1003 1964 0.9489432 0.9423643 0.9456538 0.9975172 0.9987672 0.943689 0.9783107 NA NA 0.005254186 -0.03594636 0.9981422 0.9609999 NA -0.01534609 NA FALSE NA 0.001 0.099 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 1/2 1 NA AGC G,C 8.237e-06 15:70660253 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 non_coding_transcript_exon_variant 0.19514 0.28571 0.1071 0.069865 0.4931197 0.517124 2.350352e-17 FALSE 4.18533e-06 ENSE00001620851_034 ENSE00001620851 034 15 70952443 70952612 - 47 66 57 T C 70952595 1654 18 ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTACCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCCTAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGCTCACATTTCCAAACTTT 70660103 70660273 70660255 70660256 70660256 upstr_intron -40 -0.6842105 AAAGTTTGGAAATGTGAGCGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT mutant NA NA NA NA NA 2063 626 0.9068027 0.9999392 0.953371 0.9975172 0.9987672 0.943689 0.9783107 NA NA -0.03688631 0.02162848 0.9981422 0.9609999 NA -0.007628913 NA FALSE NA 0 -1.005 . intron_variant&non_coding_transcript_variant MODIFIER UACA HGNC 15947 ENST00000560831 1/2 1 NA GTT T,C 1.647e-05 15:70660256 UACA HGNC Symbol protein_coding 109039 ENSG00000137831 ENSE00003617095 non_coding_transcript_exon_variant -0.017243 0.09202 0.0073 0.069865 0.3445664 0.0532412 2.350352e-17 FALSE 2.51492e-05 ENSE00001620851_BRK ENSE00001620851 BRK 15 70952443 70952612 - 47 66 57 A,G; T,T NA NA NA ATTATCTCTAAAGCAATATTCTTTCCAAAGGAGAAGTAGTTCTTTGGCTGTGCAGCACTAAGAAGGTGTGTCCGATAAATTGCAATTACTTCTTGGTGCTGTCTGTCAGCATCAAAGAAATGTGGAAAGATGGACAGATGTGACTATCAGCGTTCACATTTCCAAACTTT 70660103 70660273 NA NA NA NA NA NA AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTTTGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGCCAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT AAAGTTTGGAAATGTGAACGCTGATAGTCACATCTGTCCATCTTTCCACATTTCTAGGATGCTGACAGACAGCACCAAGAAGTAATTGCAATTTATCGGACACACCTTCTTAGTGCTGCACAGGTAAAGAACTACTTCTCCTTTGGAAAGAATATTGCTTTAGAGATAAT control 463 101 0 0 0 1994 693 0.01402488 0.01323824 0.01363156 0.9975172 0.9987672 0.943689 0.9783107 -0.9975172 -0.9987672 -0.9296642 -0.9650725 0.9981422 0.9609999 -0.9981422 -0.9473683 0.05077389 TRUE TRUE NA NA NA NA NA UACA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UACA NA NA NA ENSG00000137831 ENSE00003617095 NA NA NA NA NA NA NA 2.350352e-17 FALSE NA ENSE00001621432_000 ENSE00001621432 000 12 48376819 48376988 - 57 45 68 NA NA NA NA NA TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGGTGAGTATCCTGTTGGCCAATGCGGGCTGCCTCCTTGGGCCTGCCCTGGGTCCTATG 47983035 47983205 NA NA NA NA NA NA TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGGTGAGTATCCTGTTGGCCAATGCGGGCTGCCTCCTTGGGCCTGCCCTGGGTCCTATG TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGGTGAGTATCCTGTTGGCCAATGCGGGCTGCCTCCTTGGGCCTGCCCTGGGTCCTATG natural NA NA NA NA NA 550 96 0.8290633 0.9916722 0.9103678 NA NA 0.8290633 0.9916722 NA NA 0 0 NA 0.9103678 NA 0 NA FALSE NA NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003463788 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001621432_005 ENSE00001621432 005 12 48376819 48376988 - 57 45 68 G A 48376849 1044 140 TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGGTGAGTATCCTGTTGGCCAATGCGGGTTGCCTCCTTGGGCCTGCCCTGGGTCCTATG 47983035 47983205 47983065 47983066 47983066 downstr_intron 27 1.482143 TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGGTGAGTATCCTGTTGGCCAATGCGGGTTGCCTCCTTGGGCCTGCCCTGGGTCCTATG TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGGTGAGTATCCTGTTGGCCAATGCGGGCTGCCTCCTTGGGCCTGCCCTGGGTCCTATG mutant NA NA NA NA NA 14 228 1 0.9998329 0.9999165 NA NA 0.8290633 0.9916722 NA NA 0.1709367 0.008160728 NA 0.9103678 NA 0.08954869 NA FALSE NA 0 -1.175 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 3/7 rs372963375 1 NA A:0 A:0.0001 AGC G,A 8.237e-06 12:47983066 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003463788 intron_variant -0.145703 0.09526 0.00209 0.06567 0.5317447 0.0528517 1 TRUE NA ENSE00001621432_BRK ENSE00001621432 BRK 12 48376819 48376988 - 57 45 68 A,G; T,T NA NA NA TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCTTGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGCCGAGTATCCTGTTGGCCAATGCGGGCTGCCTCCTTGGGCCTGCCCTGGGTCCTATG 47983035 47983205 NA NA NA NA NA NA TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCTTGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGCCGAGTATCCTGTTGGCCAATGCGGGCTGCCTCCTTGGGCCTGCCCTGGGTCCTATG TGTGGAGAATTGTTCAGGGGTCTGTGATATGAAGCCTTCACTCTCACACATCTTTCTTTGTTCTCCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGGTGAGTATCCTGTTGGCCAATGCGGGCTGCCTCCTTGGGCCTGCCCTGGGTCCTATG control 21 10 0 0 0 NA NA NA NA NA NA NA 0.8290633 0.9916722 NA NA NA NA NA 0.9103678 NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003463788 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001621722_000 ENSE00001621722 000 1 39758387 39758556 + 51 78 41 NA NA NA NA NA GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 NA NA NA NA NA NA GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC natural NA NA NA NA NA 3743 3696 0.973782 0.9414955 0.9576387 NA NA 0.973782 0.9414955 NA NA 0 0 NA 0.9576387 NA 0 NA FALSE NA NA NA NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MACF1 NA NA NA ENSG00000127603 ENSE00001621722 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001621722_003 ENSE00001621722 003 1 39758387 39758556 + 51 78 41 G A 39758409 1320 23 GTTTACTTACTCTTTCTCTAATATATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292736 39292737 39292737 upstr_intron -29 -0.5490196 GTTTACTTACTCTTTCTCTAATATATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 1177 872 0.9998698 0.9994746 0.9996722 NA NA 0.973782 0.9414955 NA NA 0.02608781 0.05797903 NA 0.9576387 NA 0.04203342 NA FALSE NA 0.001 -0.405 . intron_variant&NMD_transcript_variant MODIFIER MACF1 HGNC 13664 ENST00000496804 11/30 1 NA TGT G,A 2.472e-05 1:39292737 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 intron_variant 1.403932 0.15897 0.0322 0.099367 0.7267266 0.152421 1 TRUE 2.69765e-05 ENSE00001621722_006 ENSE00001621722 006 1 39758387 39758556 + 51 78 41 T C 39758423 1323 37 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCACTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292750 39292751 39292751 upstr_intron -15 -0.2745098 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCACTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 54 230 1 1 1 NA NA 0.973782 0.9414955 NA NA 0.02621803 0.05850447 NA 0.9576387 NA 0.04236125 NA FALSE NA 0.997 2.676 . intron_variant&NMD_transcript_variant MODIFIER MACF1 HGNC 13664 ENST00000496804 11/30 rs375827574 1 NA C:0 C:0.0001 ATT T,C 1.648e-05 1:39292751 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 intron_variant 0.065507 0.60829 0.66816 0.099367 0.5310497 0.648381 1 TRUE 8.53322e-06 ENSE00001621722_008 ENSE00001621722 008 1 39758387 39758556 + 51 78 41 C T 39758425 1325 39 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTTTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292752 39292753 39292753 upstr_intron -13 -0.2352941 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTTTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 654 57 0.9980968 1 0.9990484 NA NA 0.973782 0.9414955 NA NA 0.02431482 0.05850447 NA 0.9576387 NA 0.04140964 NA FALSE NA 0.953 0.823 . intron_variant&NMD_transcript_variant MODIFIER MACF1 HGNC 13664 ENST00000496804 11/30 1 NA TCT C,T 8.238e-06 1:39292753 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 intron_variant 0.003216 0.21939 0.14995 0.156188 0.2874318 0.151315 1 TRUE 4.26876e-06 ENSE00001621722_009 ENSE00001621722 009 1 39758387 39758556 + 51 78 41 A T 39758433 1326 47 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTATTCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292760 39292761 39292761 upstr_intron -5 -0.07843137 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTATTCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 241 174 0.9749132 1 0.9874566 NA NA 0.973782 0.9414955 NA NA 0.001131234 0.05850447 NA 0.9576387 NA 0.02981785 NA FALSE NA 0.001 -0.468 . splice_region_variant&intron_variant&NMD_transcript_variant LOW MACF1 HGNC 13664 ENST00000496804 11/30 1 NA AAT A,T 1.647e-05 1:39292761 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 splice_region_variant 0.652148 0.73085 0.14948 0.156188 0.4708949 0.283562 1 TRUE 8.29421e-06 ENSE00001621722_011 ENSE00001621722 011 1 39758387 39758556 + 51 78 41 G C 39758452 1328 66 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCACAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292779 39292780 39292780 exon 15 0.1923077 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCACAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 268 336 1 1 1 NA NA 0.973782 0.9414955 NA NA 0.02621803 0.05850447 NA 0.9576387 NA 0.04236125 NA FALSE NA 0.739 -0.207 . missense_variant&NMD_transcript_variant MODERATE MACF1 HGNC 13664 ENST00000496804 12/31 1 deleterious(0.03) benign(0.023) NA AGA G,C 8.237e-06 1:39292780 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 missense_variant 0.357953 0.36207 0.55199 0.706548 0.9494416 0 1 TRUE 1.6439e-05 ENSE00001621722_015 ENSE00001621722 015 1 39758387 39758556 + 51 78 41 A G 39758469 1332 83 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTGTGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292796 39292797 39292797 exon 32 0.4102564 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTGTGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 93 80 1 1 1 NA NA 0.973782 0.9414955 NA NA 0.02621803 0.05850447 NA 0.9576387 NA 0.04236125 NA FALSE NA 1 8.588 . missense_variant&NMD_transcript_variant MODERATE MACF1 HGNC 13664 ENST00000496804 12/31 1 deleterious(0.01) probably_damaging(0.997) NA TAT A,G 8.237e-06 1:39292797 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 missense_variant 6.130487 0.99184 0.99628 0.706548 0.9982154 0 1 TRUE 8.16647e-06 ENSE00001621722_016 ENSE00001621722 016 1 39758387 39758556 + 51 78 41 T C 39758473 1333 87 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCCGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292800 39292801 39292801 exon 36 0.4615385 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCCGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 33 812 1 1 1 NA NA 0.973782 0.9414955 NA NA 0.02621803 0.05850447 NA 0.9576387 NA 0.04236125 NA FALSE NA 0.94 -0.024 . synonymous_variant&NMD_transcript_variant LOW MACF1 HGNC 13664 ENST00000496804 12/31 1 NA CTG T,C 8.237e-06 1:39292801 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 synonymous_variant 0.71506 0.96396 0.88467 0.706548 0.7079411 0 1 TRUE NA ENSE00001621722_017 ENSE00001621722 017 1 39758387 39758556 + 51 78 41 T C 39758481 1334 95 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCCTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292808 39292809 39292809 exon -35 0.5641026 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCCTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 336 100 1 0.9957008 0.9978504 NA NA 0.973782 0.9414955 NA NA 0.02621803 0.05420528 NA 0.9576387 NA 0.04021165 NA FALSE NA 1 7.404 . missense_variant&NMD_transcript_variant MODERATE MACF1 HGNC 13664 ENST00000496804 12/31 1 deleterious(0) probably_damaging(0.99) NA CTT T,C 8.237e-06 1:39292809 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 missense_variant 6.094485 0.99141 0.99392 0.706548 0.9993022 0 1 TRUE 1.22364e-05 ENSE00001621722_019 ENSE00001621722 019 1 39758387 39758556 + 51 78 41 G A 39758518 1336 132 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTAAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292845 39292846 39292846 downstr_intron 3 1.075 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTAAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 193 941 1 0.9992279 0.9996139 NA NA 0.973782 0.9414955 NA NA 0.02621803 0.05773233 NA 0.9576387 NA 0.04197518 NA FALSE NA 0.994 0.17 . splice_region_variant&intron_variant&NMD_transcript_variant LOW MACF1 HGNC 13664 ENST00000496804 12/30 1 NA TGA G,A 8.237e-06 1:39292846 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 splice_region_variant 0.133075 0.95938 0.86592 0.099367 0.4516612 0.365238 1 TRUE 1.64852e-05 ENSE00001621722_020 ENSE00001621722 020 1 39758387 39758556 + 51 78 41 G C 39758526 1337 140 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTCCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292853 39292854 39292854 downstr_intron 11 1.275 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTCCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 73 172 1 0.9870833 0.9935417 NA NA 0.973782 0.9414955 NA NA 0.02621803 0.04558779 NA 0.9576387 NA 0.03590291 NA FALSE NA 0.002 0.102 . intron_variant&NMD_transcript_variant MODIFIER MACF1 HGNC 13664 ENST00000496804 12/30 1 NA TGC G,C 8.237e-06 1:39292854 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 intron_variant -0.196605 0.22227 0.02943 0.099367 0.381147 0.0958038 1 TRUE 4.14676e-06 ENSE00001621722_021 ENSE00001621722 021 1 39758387 39758556 + 51 78 41 C T 39758528 1338 142 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCTGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292855 39292856 39292856 downstr_intron 13 1.325 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCTGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 295 86 0.9993401 1 0.9996701 NA NA 0.973782 0.9414955 NA NA 0.02555816 0.05850447 NA 0.9576387 NA 0.04203131 NA FALSE NA 0.001 0.775 . intron_variant&NMD_transcript_variant MODIFIER MACF1 HGNC 13664 ENST00000496804 12/30 rs370188162 1 NA T:0.0002 T:0 CCG C,T 4.118e-05 1:39292856 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 intron_variant 0.07753 0.2117 0.00943 0.099367 0.3663147 0.0851235 1 TRUE 3.74146e-05 ENSE00001621722_022 ENSE00001621722 022 1 39758387 39758556 + 51 78 41 G A 39758529 1339 143 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCAATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 39292856 39292857 39292857 downstr_intron 14 1.35 GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCAATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC mutant NA NA NA NA NA 478 117 1 1 1 NA NA 0.973782 0.9414955 NA NA 0.02621803 0.05850447 NA 0.9576387 NA 0.04236125 NA FALSE NA 0 -1.455 . intron_variant&NMD_transcript_variant MODIFIER MACF1 HGNC 13664 ENST00000496804 12/30 rs372457398 1 NA A:0 A:0.0001 CGA G,A 0.0001895 1:39292857 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001621722 intron_variant -0.273411 0.12942 0.00628 0.099367 0.4166445 0.0851235 1 TRUE 0.000175184 ENSE00001621722_BRK ENSE00001621722 BRK 1 39758387 39758556 + 51 78 41 A,G; T,T NA NA NA GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCTTGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGCCGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC 39292714 39292884 NA NA NA NA NA NA GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCTTGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGCCGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC GTTTACTTACTCTTTCTCTAATGTATTTTTATTTCATTCTTTTTTAATCAGGGAAAGATGTCCCAGAATTTCCATACCAGCTATGCTGAAACTCTTGGAAAGCTGGAGACACAGTATTGTAAATTGAAGGTGAGTTTCTGCCGATTCTCTTACATTCTGCTCATAGAGTC control NA NA NA NA NA 15 310 0 0 0 NA NA 0.973782 0.9414955 NA NA -0.973782 -0.9414955 NA 0.9576387 NA -0.9576387 NA TRUE NA NA NA NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MACF1 NA NA NA ENSG00000127603 ENSE00001621722 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001621867_000 ENSE00001621867 000 9 137630533 137630702 + 59 63 48 NA NA NA NA NA CTTGGACCTTGCCCTGCGGCCCCATCTTCTAACTGCCCCAACTTTATTTTTAATTCTAGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTCGGGGACCCTGGAGAAAGGGTAAGAGGTTGACTGTGTTTCCTGAGATCACACAAGGTGTGGGGCTGC 134738686 134738856 NA NA NA NA NA NA CTTGGACCTTGCCCTGCGGCCCCATCTTCTAACTGCCCCAACTTTATTTTTAATTCTAGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTCGGGGACCCTGGAGAAAGGGTAAGAGGTTGACTGTGTTTCCTGAGATCACACAAGGTGTGGGGCTGC CTTGGACCTTGCCCTGCGGCCCCATCTTCTAACTGCCCCAACTTTATTTTTAATTCTAGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTCGGGGACCCTGGAGAAAGGGTAAGAGGTTGACTGTGTTTCCTGAGATCACACAAGGTGTGGGGCTGC natural NA NA NA NA NA 464 554 0.988771 0.9772977 0.9830343 NA NA 0.988771 0.9772977 NA NA 0 0 NA 0.9830343 NA 0 NA FALSE NA NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001621867 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001621867_017 ENSE00001621867 017 9 137630533 137630702 + 59 63 48 G A 137630640 3498 108 CTTGGACCTTGCCCTGCGGCCCCATCTTCTAACTGCCCCAACTTTATTTTTAATTCTAGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTCGGGAACCCTGGAGAAAGGGTAAGAGGTTGACTGTGTTTCCTGAGATCACACAAGGTGTGGGGCTGC 134738686 134738856 134738793 134738794 134738794 exon -15 0.7777778 CTTGGACCTTGCCCTGCGGCCCCATCTTCTAACTGCCCCAACTTTATTTTTAATTCTAGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTCGGGAACCCTGGAGAAAGGGTAAGAGGTTGACTGTGTTTCCTGAGATCACACAAGGTGTGGGGCTGC CTTGGACCTTGCCCTGCGGCCCCATCTTCTAACTGCCCCAACTTTATTTTTAATTCTAGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTCGGGGACCCTGGAGAAAGGGTAAGAGGTTGACTGTGTTTCCTGAGATCACACAAGGTGTGGGGCTGC mutant NA NA NA NA NA 40 40 0.8 1 0.9 NA NA 0.988771 0.9772977 NA NA -0.188771 0.0227023 NA 0.9830343 NA -0.08303434 NA FALSE NA 1 6.338 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 11/66 COSM3905453 1 probably_damaging(0.998) NA GGA G 8.236e-06 9:134738794 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001621867 missense_variant 6.69662 0.93642 0.94613 0.712529 0.9977375 0 1 TRUE 4.06147e-06 ENSE00001622323_000 ENSE00001622323 000 10 99220401 99220570 - 51 57 62 NA NA NA NA NA TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 NA NA NA NA NA NA TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG natural 81 171 0.85 0.8435134 0.8467567 1460 1731 0.7858398 0.8750989 0.8304693 0.85 0.8435134 0.7858398 0.8750989 0 0 0 0 0.8467567 0.8304693 0 0 0 FALSE FALSE NA NA NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003487682 NA NA NA NA NA NA NA 0.831822 FALSE NA ENSE00001622323_002 ENSE00001622323 002 10 99220401 99220570 - 51 57 62 G C 99220424 2162 147 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACGCAGGACCTAAACAAACTTTCTGG 97460643 97460813 97460666 97460667 97460667 downstr_intron 28 1.56 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACGCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG mutant NA NA NA NA NA 244 1090 0.8092062 0.9554889 0.8823476 0.85 0.8435134 0.7858398 0.8750989 NA NA 0.02336646 0.08038999 0.8467567 0.8304693 NA 0.05187823 NA FALSE NA 0.006 -0.196 . downstream_gene_variant MODIFIER MMS19 HGNC 13824 ENST00000478452 rs376121571 1 NA C:0 C:0.0001 GGG G,C 1.657e-05 10:97460667 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003487682 intron_variant 0.043028 0.21111 0.13656 0.256867 0.7214706 0.0503676 0.831822 FALSE 5.3613e-06 ENSE00001622323_004 ENSE00001622323 004 10 99220401 99220570 - 51 57 62 G A 99220448 2164 123 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTATGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 97460690 97460691 97460691 downstr_intron 4 1.08 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTATGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG mutant NA NA NA NA NA 680 30 0.8011842 0.808357 0.8047706 0.85 0.8435134 0.7858398 0.8750989 NA NA 0.01534439 -0.06674187 0.8467567 0.8304693 NA -0.02569874 NA FALSE NA 0.989 0.356 . downstream_gene_variant MODIFIER MMS19 HGNC 13824 ENST00000478452 rs376742227 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 CGT G,A 6.601e-05 10:97460691 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003487682 splice_region_variant 0.875678 0.87018 0.4386 0.256867 0.7976049 0.412619 0.831822 FALSE 7.15069e-05 ENSE00001622323_005 ENSE00001622323 005 10 99220401 99220570 - 51 57 62 C T 99220453 2165 118 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCAGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 97460695 97460696 97460696 exon -2 0.9824561 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCAGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG mutant NA NA NA NA NA 221 133 0.9858326 0.9976457 0.9917391 0.85 0.8435134 0.7858398 0.8750989 NA NA 0.1999928 0.1225468 0.8467567 0.8304693 NA 0.1612698 NA FALSE NA 0.994 0.11 . downstream_gene_variant MODIFIER MMS19 HGNC 13824 ENST00000478452 rs369840797 1 NA T:0 T:0.0003 CCG C,T 6.598e-05 10:97460696 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003487682 missense_variant 2.481354 0.85312 0.44753 0.67177 0.9140739 0 0.831822 FALSE 5.62161e-05 ENSE00001622323_007 ENSE00001622323 007 10 99220401 99220570 - 51 57 62 A C 99220462 2167 109 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCGTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 97460704 97460705 97460705 exon -11 0.8245614 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCGTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG mutant NA NA NA NA NA 148 182 0.9747829 0.87945 0.9271164 0.85 0.8435134 0.7858398 0.8750989 NA NA 0.1889431 0.004351083 0.8467567 0.8304693 NA 0.09664711 NA FALSE NA 1 6.794 . downstream_gene_variant MODIFIER MMS19 HGNC 13824 ENST00000478452 rs374461373 1 NA C:0 C:0.0001 AAG A,C 2.473e-05 10:97460705 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003487682 missense_variant 6.350835 0.95637 0.97995 0.67177 0.9978957 0 0.831822 FALSE 2.27432e-05 ENSE00001622323_009 ENSE00001622323 009 10 99220401 99220570 - 51 57 62 G A 99220470 2169 101 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGTTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 97460712 97460713 97460713 exon -19 0.6842105 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGTTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG mutant NA NA NA NA NA 403 853 0.906597 0.895482 0.9010395 0.85 0.8435134 0.7858398 0.8750989 NA NA 0.1207572 0.02038312 0.8467567 0.8304693 NA 0.07057018 NA FALSE NA 1 0.7 . downstream_gene_variant MODIFIER MMS19 HGNC 13824 ENST00000478452 rs201388911 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGC G,A 8.244e-06 10:97460713 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003487682 synonymous_variant 1.450423 0.89402 0.70258 0.67177 0.830712 0 0.831822 FALSE NA ENSE00001622323_011 ENSE00001622323 011 10 99220401 99220570 - 51 57 62 T A 99220515 2171 56 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCATTTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 97460757 97460758 97460758 upstr_intron -7 -0.09677419 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCATTTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG mutant NA NA NA NA NA 192 204 0.9738046 0.9256855 0.949745 0.85 0.8435134 0.7858398 0.8750989 NA NA 0.1879648 0.05058657 0.8467567 0.8304693 NA 0.1192757 NA FALSE NA 0 -0.096 . downstream_gene_variant MODIFIER MMS19 HGNC 13824 ENST00000478452 rs373070416 1 NA A:0 A:0.0002 ATT T,A 2.475e-05 10:97460758 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003487682 splice_region_variant 0.985897 0.20119 0.15945 0.069865 0.7990979 0.36376 0.831822 FALSE 2.32866e-05 ENSE00001622323_013 ENSE00001622323 013 10 99220401 99220570 - 51 57 62 G A 99220524 2173 47 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTTTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 97460766 97460767 97460767 upstr_intron -16 -0.2419355 TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTTTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG mutant NA NA NA NA NA 728 122 0.9870016 0.9987014 0.9928515 0.85 0.8435134 0.7858398 0.8750989 NA NA 0.2011618 0.1236026 0.8467567 0.8304693 NA 0.1623822 NA FALSE NA 0.577 -0.244 . downstream_gene_variant MODIFIER MMS19 HGNC 13824 ENST00000478452 rs369546919 1 NA A:0 A:0.0001 AGA G,A 1.651e-05 10:97460767 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003487682 intron_variant 0.038864 0.13852 0.10642 0.115753 0.8016387 0.0887428 0.831822 FALSE 9.579e-06 ENSE00001622323_019 ENSE00001622323 019 10 99220401 99220570 - 51 57 62 C T 99220555 2179 16 TGTCTCAGGGTTCTCAGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 97460797 97460798 97460798 upstr_intron -47 -0.7419355 TGTCTCAGGGTTCTCAGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG mutant NA NA NA NA NA 550 188 0.8571703 0.8015366 0.8293534 0.85 0.8435134 0.7858398 0.8750989 NA NA 0.07133047 -0.07356232 0.8467567 0.8304693 NA -0.001115923 NA FALSE NA 0.001 1.055 . downstream_gene_variant MODIFIER MMS19 HGNC 13824 ENST00000478452 rs375151041 1 NA T:0 T:0.0002 CCG C,T 9.114e-05 10:97460798 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003487682 intron_variant 0.734483 0.35618 0.30684 0.115753 0.7226896 0.54011 0.831822 FALSE 5.97813e-05 ENSE00001622323_BRK ENSE00001622323 BRK 10 99220401 99220570 - 51 57 62 A,G; T,T NA NA NA TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACTTGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGCCACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG 97460643 97460813 NA NA NA NA NA NA TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACTTGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGCCACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG TGTCTCAGGGTTCTCGGGTTTGAGTGTCATTCCCCAATTGCTCTCTCTGTCTCCAATTACAGGTAACAAAGGCCCTAGTGCTCAGATACCATCCTCTCAGCTCCTGCCTTACAGCCCGGGTACGTCCTTTCTGGAGACAGAAGAACCCAGGACCTAAACAAACTTTCTGG control NA NA NA NA NA 42 252 0 0 0 0.85 0.8435134 0.7858398 0.8750989 NA NA -0.7858398 -0.8750989 0.8467567 0.8304693 NA -0.8304693 NA TRUE NA NA NA NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003487682 NA NA NA NA NA NA NA 0.831822 FALSE NA ENSE00001622388_000 ENSE00001622388 000 9 131735394 131735563 + 45 90 35 NA NA NA NA NA AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG 128973114 128973284 NA NA NA NA NA NA AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG natural 51 19 0.9981181 0.9948432 0.9964806 1943 1669 0.9582381 0.8337925 0.8960153 0.9981181 0.9948432 0.9582381 0.8337925 0 0 0 0 0.9964806 0.8960153 0 0 0 FALSE FALSE NA NA NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP188 NA NA NA ENSG00000095319 ENSE00001622388 NA NA NA NA NA NA NA 0.9870793 TRUE NA ENSE00001622388_001 ENSE00001622388 001 9 131735394 131735563 + 45 90 35 C T 131735404 2879 11 AGTTGTATTATTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG 128973114 128973284 128973124 128973125 128973125 upstr_intron -35 -0.7555556 AGTTGTATTATTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG mutant NA NA NA NA NA 133 895 1 1 1 0.9981181 0.9948432 0.9582381 0.8337925 NA NA 0.0417619 0.1662075 0.9964806 0.8960153 NA 0.1039847 NA FALSE NA 0 -1.36 rs2181260 intron_variant MODIFIER NUP188 HGNC 17859 ENST00000372577 11/43 rs2181260 1 T:0.0028 T:0.0106 T:0 NA T:0 T:0 T:0 T:0.0086 T:0.0001 ACT C,T 0.000939 9:128973125 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00001622388 intron_variant 0.302325 0.1075 0.01618 0.156188 0.7303203 0.0776643 0.9870793 TRUE 0.000684293 ENSE00001622388_005 ENSE00001622388 005 9 131735394 131735563 + 45 90 35 A G 131735460 2883 67 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCGTGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG 128973114 128973284 128973180 128973181 128973181 exon 22 0.2444444 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCGTGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG mutant NA NA NA NA NA 41 98 1 0.9983828 0.9991914 0.9981181 0.9948432 0.9582381 0.8337925 NA NA 0.0417619 0.1645903 0.9964806 0.8960153 NA 0.1031761 NA FALSE NA 1 3.449 . missense_variant MODERATE NUP188 HGNC 17859 ENST00000372577 12/44 COSM3996356 1 tolerated(0.6) benign(0.012) NA CAT A,G 8.236e-06 9:128973181 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00001622388 missense_variant 0.933578 0.92815 0.8276 0.706548 0.9620862 0 0.9870793 TRUE 1.62778e-05 ENSE00001622388_010 ENSE00001622388 010 9 131735394 131735563 + 45 90 35 C A 131735494 2888 101 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGAACTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG 128973114 128973284 128973214 128973215 128973215 exon -35 0.6222222 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGAACTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG mutant NA NA NA NA NA 208 641 0.9976619 1 0.998831 0.9981181 0.9948432 0.9582381 0.8337925 NA NA 0.03942383 0.1662075 0.9964806 0.8960153 NA 0.1028157 NA FALSE NA 1 6.956 . missense_variant MODERATE NUP188 HGNC 17859 ENST00000372577 12/44 1 deleterious(0.01) possibly_damaging(0.696) NA ACC C,A 8.236e-06 9:128973215 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00001622388 missense_variant 4.708543 0.95732 0.94555 0.706548 0.991176 0 0.9870793 TRUE NA ENSE00001622388_012 ENSE00001622388 012 9 131735394 131735563 + 45 90 35 C T 131735497 2890 104 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTTGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG 128973114 128973284 128973217 128973218 128973218 exon -32 0.6555556 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTTGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG mutant NA NA NA NA NA 427 1427 0.8338382 0.8169319 0.825385 0.9981181 0.9948432 0.9582381 0.8337925 NA NA -0.1243999 -0.01686063 0.9964806 0.8960153 NA -0.07063028 NA FALSE NA 0.999 4.077 . missense_variant MODERATE NUP188 HGNC 17859 ENST00000372577 12/44 COSM1701812 1 tolerated(0.26) benign(0.009) NA TCG C,T 1.647e-05 9:128973218 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00001622388 missense_variant 3.546549 0.93449 0.86647 0.706548 0.8908296 0 0.9870793 TRUE 1.62717e-05 ENSE00001622388_015 ENSE00001622388 015 9 131735394 131735563 + 45 90 35 C A 131735519 2893 126 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGAAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG 128973114 128973284 128973239 128973240 128973240 exon -10 0.9 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGAAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG mutant NA NA NA NA NA 27 112 1 0.9891095 0.9945547 0.9981181 0.9948432 0.9582381 0.8337925 NA NA 0.0417619 0.155317 0.9964806 0.8960153 NA 0.09853943 NA FALSE NA 0.832 -0.149 . synonymous_variant LOW NUP188 HGNC 17859 ENST00000372577 12/44 1 NA GCA C,A 1.647e-05 9:128973240 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00001622388 synonymous_variant 1.939062 0.8898 0.66349 0.706548 0.8623136 0 0.9870793 TRUE 8.15182e-06 ENSE00001622388_022 ENSE00001622388 022 9 131735394 131735563 + 45 90 35 C T 131735552 2900 159 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGTTGTCTCTACTG 128973114 128973284 128973272 128973273 128973273 downstr_intron 24 1.705882 AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGTTGTCTCTACTG AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG mutant NA NA NA NA NA 123 196 0.9966054 1 0.9983027 0.9981181 0.9948432 0.9582381 0.8337925 NA NA 0.03836728 0.1662075 0.9964806 0.8960153 NA 0.1022874 NA FALSE NA 0.003 0.811 . intron_variant MODIFIER NUP188 HGNC 17859 ENST00000372577 12/43 1 NA GCT C,T 8.236e-06 9:128973273 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00001622388 intron_variant 0.486561 0.22321 0.08006 0.099367 0.7345981 0.0521447 0.9870793 TRUE NA ENSE00001622388_BRK ENSE00001622388 BRK 9 131735394 131735563 + 45 90 35 A,G; T,T NA NA NA AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCTTTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGCCCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG 128973114 128973284 NA NA NA NA NA NA AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCTTTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGCCCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG AGTTGTATTACTCAGAATGATTCACTGACTCCTTTGTCATTCCAGTGCACCACCAGCACTGCATGCATGTGTGTCTATGGACTGCTCTCTTTCGTTCTGACCTCGTTGGAGCTGCACACCCTGGGCAATCAGCAGGTCAGTGTCTGGCTTTCATGAAGCTGTCTCTACTG control 23 20 0 0 0 NA NA NA NA NA 0.9981181 0.9948432 0.9582381 0.8337925 -0.9981181 -0.9948432 NA NA 0.9964806 0.8960153 -0.9964806 NA NA NA TRUE NA NA NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP188 NA NA NA ENSG00000095319 ENSE00001622388 NA NA NA NA NA NA NA 0.9870793 TRUE NA ENSE00001622396_000 ENSE00001622396 000 13 113525992 113526161 + 57 66 47 NA NA NA NA NA GGGGTTCACTGTGGCTGGGGGAGGAACGTGAGCGCGAGACCACTTACCTTTAGTGTAACTGTGAACACCATCACGGTGAATACCAGCGTTCCAAACGTCCAGTTTCCAAATATCTGTTTGGGGAAAATAGTCCAAGTCATCTCGTTTTTATGTATTTTTTTTTCTCTTTC 112871677 112871847 NA NA NA NA NA NA GAAAGAGAAAAAAAAATACATAAAAACGAGATGACTTGGACTATTTTCCCCAAACAGATATTTGGAAACTGGACGTTTGGAACGCTGGTATTCACCGTGATGGTGTTCACAGTTACACTAAAGGTAAGTGGTCTCGCGCTCACGTTCCTCCCCCAGCCACAGTGAACCCC GAAAGAGAAAAAAAAATACATAAAAACGAGATGACTTGGACTATTTTCCCCAAACAGATATTTGGAAACTGGACGTTTGGAACGCTGGTATTCACCGTGATGGTGTTCACAGTTACACTAAAGGTAAGTGGTCTCGCGCTCACGTTCCTCCCCCAGCCACAGTGAACCCC natural 20 13 0.9966049 0.9984985 0.9975517 2156 1666 0.9540867 0.9924824 0.9732845 0.9966049 0.9984985 0.9540867 0.9924824 0 0 0 0 0.9975517 0.9732845 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003466979 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001622396_BRK ENSE00001622396 BRK 13 113525992 113526161 + 57 66 47 A,G; T,T NA NA NA GGGGTTCACTGTGGCTGGGGGAGGAACGTGAGCGCGAGACCACTTGGCTTTAGTGTAACTGTGAACACCATCACGGTGAATACCAGCGTTCCAAACGTCCAGTTTCCAAATATAAGTTTGGGGAAAATAGTCCAAGTCATCTCGTTTTTATGTATTTTTTTTTCTCTTTC 112871677 112871847 NA NA NA NA NA NA GAAAGAGAAAAAAAAATACATAAAAACGAGATGACTTGGACTATTTTCCCCAAACTTATATTTGGAAACTGGACGTTTGGAACGCTGGTATTCACCGTGATGGTGTTCACAGTTACACTAAAGCCAAGTGGTCTCGCGCTCACGTTCCTCCCCCAGCCACAGTGAACCCC GAAAGAGAAAAAAAAATACATAAAAACGAGATGACTTGGACTATTTTCCCCAAACAGATATTTGGAAACTGGACGTTTGGAACGCTGGTATTCACCGTGATGGTGTTCACAGTTACACTAAAGGTAAGTGGTCTCGCGCTCACGTTCCTCCCCCAGCCACAGTGAACCCC control NA NA NA NA NA 657 739 0.007056101 0.03008752 0.01857181 0.9966049 0.9984985 0.9540867 0.9924824 NA NA -0.9470306 -0.9623949 0.9975517 0.9732845 NA -0.9547127 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003466979 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001623199_000 ENSE00001623199 000 1 44685024 44685193 + 54 72 44 NA NA NA NA NA ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 NA NA NA NA NA NA ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG natural 598 752 0.8017934 0.8455725 0.8236829 2068 2332 0.8037454 0.8092564 0.8065009 0.8017934 0.8455725 0.8037454 0.8092564 0 0 0 0 0.8236829 0.8065009 0 0 0 FALSE FALSE NA NA NA NA NA ERI3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DMAP1 NA NA NA ENSG00000178028 ENSE00003692513 NA NA NA NA NA NA NA 0.3361416 FALSE NA ENSE00001623199_001 ENSE00001623199 001 1 44685024 44685193 + 54 72 44 T G 44685043 1690 20 ACCCTGGGCCCTCTCCCTGGGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219370 44219371 44219371 upstr_intron -35 -0.6296296 ACCCTGGGCCCTCTCCCTGGGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant NA NA NA NA NA 18 13 0.8941981 0.8 0.8470991 0.8017934 0.8455725 0.8037454 0.8092564 NA NA 0.09045278 -0.00925638 0.8236829 0.8065009 NA 0.0405982 NA FALSE NA 0 0.422 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA GTG T,G 8.25e-06 1:44219371 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.055711 0.21288 0.26382 0.115753 0.612178 0.114764 0.3361416 FALSE 5.3384e-06 ENSE00001623199_002 ENSE00001623199 002 1 44685024 44685193 + 54 72 44 T C 44685050 1691 27 ACCCTGGGCCCTCTCCCTGTGACACCCTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219377 44219378 44219378 upstr_intron -28 -0.5 ACCCTGGGCCCTCTCCCTGTGACACCCTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 25 66 0.85 0.85 0.85 370 90 0.8491322 0.9482692 0.8987007 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 0.04538682 0.1390128 0.8236829 0.8065009 0.02631706 0.09219983 0.06588277 FALSE FALSE 0 -0.354 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA CTT T,C 8.248e-06 1:44219378 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.07426 0.1983 0.07985 0.256867 0.6031596 0.114764 0.3361416 FALSE NA ENSE00001623199_003 ENSE00001623199 003 1 44685024 44685193 + 54 72 44 G A 44685052 1692 29 ACCCTGGGCCCTCTCCCTGTGACACCTTAGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219379 44219380 44219380 upstr_intron -26 -0.462963 ACCCTGGGCCCTCTCCCTGTGACACCTTAGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 30 28 0.85 0.85 0.85 437 255 0.8 0.8 0.8 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 -0.003745362 -0.00925638 0.8236829 0.8065009 0.02631706 -0.006500871 0.03281793 FALSE FALSE 0.002 0.07 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA TGG G,A 1.65e-05 1:44219380 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.182607 0.2105 0.17552 0.256867 0.5015693 0.167299 0.3361416 FALSE 1.04086e-05 ENSE00001623199_004 ENSE00001623199 004 1 44685024 44685193 + 54 72 44 A C 44685061 1693 38 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATCATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219388 44219389 44219389 upstr_intron -17 -0.2962963 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATCATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 85 88 0.85 0.85 0.85 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 NA NA 0.8236829 0.8065009 0.02631706 NA NA NA FALSE 0.148 0.751 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA TAA A,C 8.245e-06 1:44219389 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.897868 0.27222 0.06642 0.256867 0.837726 0.373638 0.3361416 FALSE 4.9731e-06 ENSE00001623199_005 ENSE00001623199 005 1 44685024 44685193 + 54 72 44 T C 44685063 1694 40 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAACGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219390 44219391 44219391 upstr_intron -15 -0.2592593 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAACGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 17 34 0.85 0.85 0.85 60 546 0.8 0.800463 0.8002315 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 -0.003745362 -0.008793378 0.8236829 0.8065009 0.02631706 -0.00626937 0.03258643 FALSE FALSE 0 -0.238 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA ATG T,C 8.243e-06 1:44219391 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 1.122527 0.21758 0.01067 0.256867 0.8489494 0.335893 0.3361416 FALSE 1.48655e-05 ENSE00001623199_006 ENSE00001623199 006 1 44685024 44685193 + 54 72 44 C T 44685066 1695 43 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCTTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219393 44219394 44219394 upstr_intron -12 -0.2037037 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCTTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant NA NA NA NA NA 220 437 0.9310584 0.748687 0.8398727 0.8017934 0.8455725 0.8037454 0.8092564 NA NA 0.1273131 -0.06056936 0.8236829 0.8065009 NA 0.03337186 NA FALSE NA 0.008 0.448 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 rs569675468 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 3.297e-05 1:44219394 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 1.712657 0.58639 0.17087 0.256867 0.795413 0.356627 0.3361416 FALSE 3.43417e-05 ENSE00001623199_007 ENSE00001623199 007 1 44685024 44685193 + 54 72 44 C G 44685073 1696 50 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCGCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219400 44219401 44219401 upstr_intron -5 -0.07407407 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCGCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 211 106 0 0 0 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 -0.8017934 -0.8455725 NA NA 0.8236829 0.8065009 -0.8236829 NA NA NA TRUE 0.002 1.25 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 rs567616646 1 NA CCC C,G 0.0007581 1:44219401 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 splice_region_variant 1.331485 0.25741 0.25289 0.256867 0.7529722 0.44526 0.3361416 FALSE 0.000696425 ENSE00001623199_008 ENSE00001623199 008 1 44685024 44685193 + 54 72 44 A G 44685099 1697 76 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCGTCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219426 44219427 44219427 exon 22 0.3055556 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCGTCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 195 247 0.85 0.85 0.85 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 NA NA 0.8236829 0.8065009 0.02631706 NA NA NA FALSE 1 8.72 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA CAT A,G 1.648e-05 1:44219427 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 missense_variant 4.274688 0.95809 0.97047 0.706548 0.998417 0 0.3361416 FALSE 8.91361e-06 ENSE00001623199_014 ENSE00001623199 014 1 44685024 44685193 + 54 72 44 C T 44685147 1703 124 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAATGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219474 44219475 44219475 exon -3 0.9722222 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAATGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant NA NA NA NA NA 44 278 0.8395498 0.8 0.8197749 0.8017934 0.8455725 0.8037454 0.8092564 NA NA 0.03580444 -0.00925638 0.8236829 0.8065009 NA 0.01327403 NA FALSE NA 1 4.205 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA ACG C,T 1.649e-05 1:44219475 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 missense_variant 7.615438 0.93198 0.85482 0.706548 0.9991099 0 0.3361416 FALSE NA ENSE00001623199_015 ENSE00001623199 015 1 44685024 44685193 + 54 72 44 G A 44685154 1704 131 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACATGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219481 44219482 44219482 downstr_intron 5 1.116279 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACATGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 251 82 0.1119891 0 0.05599453 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 -0.6898044 -0.8455725 NA NA 0.8236829 0.8065009 -0.7676884 NA NA NA TRUE 1 8.708 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA CGT G,A 1.65e-05 1:44219482 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 splice_region_variant 2.189622 0.95997 0.98349 0.160901 0.964458 0.963943 0.3361416 FALSE NA ENSE00001623199_016 ENSE00001623199 016 1 44685024 44685193 + 54 72 44 C T 44685160 1705 137 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTTACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219487 44219488 44219488 downstr_intron 11 1.255814 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTTACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 198 314 0.8472267 0.7670166 0.8071217 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 0.04543328 -0.07855581 NA NA 0.8236829 0.8065009 -0.01656126 NA NA NA FALSE 0 -0.308 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA TCA C,T 8.252e-06 1:44219488 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.222016 0.21117 0.0935 0.160901 0.7789372 0.16683 0.3361416 FALSE 5.20037e-06 ENSE00001623199_017 ENSE00001623199 017 1 44685024 44685193 + 54 72 44 T C 44685164 1706 141 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCCCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219491 44219492 44219492 downstr_intron 15 1.348837 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCCCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 67 88 0.85 0.85 0.85 446 88 0.8731462 0.9482299 0.910688 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 0.06940079 0.1389735 0.8236829 0.8065009 0.02631706 0.1041872 0.0778701 FALSE FALSE 0 0 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA CTC T,C 1.651e-05 1:44219492 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.19033 0.17161 0.08348 0.160901 0.5366928 0.107953 0.3361416 FALSE 2.64352e-05 ENSE00001623199_018 ENSE00001623199 018 1 44685024 44685193 + 54 72 44 T A 44685169 1707 146 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTAAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219496 44219497 44219497 downstr_intron 20 1.465116 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTAAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 355 541 0.85 0.85 0.85 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 NA NA 0.8236829 0.8065009 0.02631706 NA NA NA FALSE 0 -0.022 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 rs200056210 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 TTA T,A 6.606e-05 1:44219497 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.426266 0.20388 0.13967 0.160901 0.5845672 0.0534087 0.3361416 FALSE 8.54026e-05 ENSE00001623199_019 ENSE00001623199 019 1 44685024 44685193 + 54 72 44 C A 44685172 1708 149 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGAAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 44219499 44219500 44219500 downstr_intron 23 1.534884 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGAAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 137 100 0.85 0.85 0.85 73 354 0.8623354 0.8 0.8311677 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 0.05859005 -0.00925638 0.8236829 0.8065009 0.02631706 0.02466683 0.001650222 FALSE FALSE 0 -2.993 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 rs201621376 1 A:0.0020 A:0.0076 A:0 NA A:0 A:0 A:0 A:0.0059 A:0 GCA C,A 0.0005204 1:44219500 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant -0.041557 0.13543 0.08385 0.160901 0.7246924 0.0534087 0.3361416 FALSE 0.00051965 ENSE00001623199_020 ENSE00001623199 020 1 44685024 44685193 + 54 72 44 T G 44685177 1709 154 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTGTGGGTCCTGGGCTCTG 44219351 44219521 44219504 44219505 44219505 downstr_intron 28 1.651163 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTGTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 119 163 0.85 0.85 0.85 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 NA NA 0.8236829 0.8065009 0.02631706 NA NA NA FALSE 0 -0.526 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 1 NA TTT T,G 1.653e-05 1:44219505 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.35774 0.23047 0.16806 0.160901 0.6882453 0.0534087 0.3361416 FALSE 5.3808e-06 ENSE00001623199_021 ENSE00001623199 021 1 44685024 44685193 + 54 72 44 G A 44685181 1710 158 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGATCCTGGGCTCTG 44219351 44219521 44219508 44219509 44219509 downstr_intron 32 1.744186 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGATCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 137 103 0.85 0.85 0.85 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 NA NA 0.8236829 0.8065009 0.02631706 NA NA NA FALSE 0 -0.065 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 rs377361405 1 NA A:0 A:0.0001 GGT G,A 3.308e-05 1:44219509 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.454208 0.20046 0.13891 0.160901 0.7556058 0.0534087 0.3361416 FALSE 4.91723e-05 ENSE00001623199_022 ENSE00001623199 022 1 44685024 44685193 + 54 72 44 T C 44685182 1711 159 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGCCCTGGGCTCTG 44219351 44219521 44219509 44219510 44219510 downstr_intron 33 1.767442 ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGCCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG mutant 182 114 0.85 0.85 0.85 NA NA NA NA NA 0.8017934 0.8455725 0.8037454 0.8092564 0.04820656 0.004427547 NA NA 0.8236829 0.8065009 0.02631706 NA NA NA FALSE 0 -1.082 . downstream_gene_variant MODIFIER ERI3 HGNC 17276 ENST00000372259 rs374082056 1 NA C:0 C:0.0001 GTC T,C 4.136e-05 1:44219510 DMAP1 HGNC Symbol protein_coding 7226 ENSG00000178028 ENSE00003692513 intron_variant 0.076074 0.12596 0.01601 0.160901 0.609934 0.0534087 0.3361416 FALSE 3.29421e-05 ENSE00001623199_BRK ENSE00001623199 BRK 1 44685024 44685193 + 54 72 44 A,G; T,T NA NA NA ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCTTGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGCCACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG 44219351 44219521 NA NA NA NA NA NA ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCTTGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGCCACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG ACCCTGGGCCCTCTCCCTGTGACACCTTGGTCTCCATAATGCCTTCTCCCCCAGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTCAAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGGTACGTGAGTCACCTCCTTTAGCAAGTTTGGGTCCTGGGCTCTG control NA NA NA NA NA 170 145 0 0.002213985 0.001106993 0.8017934 0.8455725 0.8037454 0.8092564 NA NA -0.8037454 -0.8070424 0.8236829 0.8065009 NA -0.8053939 NA TRUE NA NA NA NA NA NA ERI3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DMAP1 NA NA NA ENSG00000178028 ENSE00003692513 NA NA NA NA NA NA NA 0.3361416 FALSE NA ENSE00001623452_000 ENSE00001623452 000 9 116967976 116968145 + 63 54 53 NA NA NA NA NA CCCCCAGACCCAGAGCTGGGCAGGGTCTTTCTTTTCCTTATGTTTCTCTCTGTTCCTTTGCAGGGGCAGCCAGGACCTGAGGGCAGCCCAGGGGCCAAAGGTTACCCTGGCAGGCAGGTGCAGTATATGGCTTCTGGAAGCTCTGTGGCCATGGTGATGTGAAGATGGCC 114205695 114205865 NA NA NA NA NA NA CCCCCAGACCCAGAGCTGGGCAGGGTCTTTCTTTTCCTTATGTTTCTCTCTGTTCCTTTGCAGGGGCAGCCAGGACCTGAGGGCAGCCCAGGGGCCAAAGGTTACCCTGGCAGGCAGGTGCAGTATATGGCTTCTGGAAGCTCTGTGGCCATGGTGATGTGAAGATGGCC CCCCCAGACCCAGAGCTGGGCAGGGTCTTTCTTTTCCTTATGTTTCTCTCTGTTCCTTTGCAGGGGCAGCCAGGACCTGAGGGCAGCCCAGGGGCCAAAGGTTACCCTGGCAGGCAGGTGCAGTATATGGCTTCTGGAAGCTCTGTGGCCATGGTGATGTGAAGATGGCC natural 42 14 0.9894957 1 0.9947479 277 21 0.9845982 0.8973547 0.9409765 0.9894957 1 0.9845982 0.8973547 0 0 0 0 0.9947479 0.9409765 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001623452 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001623489_000 ENSE00001623489 000 1 55625242 55625411 - 42 75 53 NA NA NA NA NA CTAACTGGCACTGGGGCCTATCTGGCTGGAGAAGGCATTTACCTTGTCTTTGAGGTCTTTCTCTTCTACACTCCGTACATCCTGGATTGTAGTAAGAATGACTGGGTCTAGCATGGGCTGTAGAAATAAAATGCTACAGTTAAGAACTCCCGAAGCTGTCCCAAAAGTAG 55159568 55159738 NA NA NA NA NA NA CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG natural 15 28 0.9980007 0.9531863 0.9755935 1725 1030 0.8963719 0.9908938 0.9436328 0.9980007 0.9531863 0.8963719 0.9908938 0 0 0 0 0.9755935 0.9436328 0 0 0 FALSE FALSE NA NA NA NA NA USP24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP24 NA NA NA ENSG00000162402 ENSE00001623489 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001623489_003 ENSE00001623489 003 1 55625242 55625411 - 42 75 53 T G 55625285 2005 127 CTAACTGGCACTGGGGCCTATCTGGCTGGAGAAGGCATTTACCGTGTCTTTGAGGTCTTTCTCTTCTACACTCCGTACATCCTGGATTGTAGTAAGAATGACTGGGTCTAGCATGGGCTGTAGAAATAAAATGCTACAGTTAAGAACTCCCGAAGCTGTCCCAAAAGTAG 55159568 55159738 55159611 55159612 55159612 exon -2 0.9866667 CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACACGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG mutant 11 68 0.85 0.85 0.85 NA NA NA NA NA 0.9980007 0.9531863 0.8963719 0.9908938 -0.1480007 -0.1031863 NA NA 0.9755935 0.9436328 -0.1255935 NA NA NA FALSE 1 7.022 . missense_variant&splice_region_variant MODERATE USP24 HGNC 12623 ENST00000407756 8/65 rs528017784 1 possibly_damaging(0.728) NA CTT T,G 8.665e-06 1:55159612 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00001623489 missense_variant 4.625216 0.96449 0.96548 0.562547 0.997467 0 1 TRUE 1.80249e-05 ENSE00001623489_005 ENSE00001623489 005 1 55625242 55625411 - 42 75 53 A G 55625320 2007 92 CTAACTGGCACTGGGGCCTATCTGGCTGGAGAAGGCATTTACCTTGTCTTTGAGGTCTTTCTCTTCTACACTCCGTACGTCCTGGATTGTAGTAAGAATGACTGGGTCTAGCATGGGCTGTAGAAATAAAATGCTACAGTTAAGAACTCCCGAAGCTGTCCCAAAAGTAG 55159568 55159738 55159646 55159647 55159647 exon -37 0.52 CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGACGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG mutant NA NA NA NA NA 1440 478 1 0.9984627 0.9992313 0.9980007 0.9531863 0.8963719 0.9908938 NA NA 0.1036281 0.007568944 0.9755935 0.9436328 NA 0.0555985 NA FALSE NA 0.998 0.708 . synonymous_variant LOW USP24 HGNC 12623 ENST00000407756 8/65 rs371607238 1 NA G:0 G:0.0007 CAT A,G 0.0001629 1:55159647 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00001623489 synonymous_variant 0.453183 0.90004 0.78093 0.706548 0.6212528 0 1 TRUE 0.000237789 ENSE00001623489_006 ENSE00001623489 006 1 55625242 55625411 - 42 75 53 T C 55625328 2008 84 CTAACTGGCACTGGGGCCTATCTGGCTGGAGAAGGCATTTACCTTGTCTTTGAGGTCTTTCTCTTCTACACTCCGTACATCCTGGACTGTAGTAAGAATGACTGGGTCTAGCATGGGCTGTAGAAATAAAATGCTACAGTTAAGAACTCCCGAAGCTGTCCCAAAAGTAG 55159568 55159738 55159654 55159655 55159655 exon 31 0.4133333 CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAGTCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG mutant NA NA NA NA NA 147 670 1 1 1 0.9980007 0.9531863 0.8963719 0.9908938 NA NA 0.1036281 0.009106248 0.9755935 0.9436328 NA 0.05636716 NA FALSE NA 1 7.022 rs150880897 missense_variant MODERATE USP24 HGNC 12623 ENST00000407756 8/65 rs150880897 1 benign(0.002) C:0.0020 C:0.0076 C:0 NA C:0 C:0 C:0 C:0.0059 C:0.0005 ATT T,C 0.0007146 1:55159655 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00001623489 missense_variant 1.30333 0.96339 0.96073 0.706548 0.990498 0 1 TRUE 0.00119518 ENSE00001623489_009 ENSE00001623489 009 1 55625242 55625411 - 42 75 53 C T 55625388 2011 24 CTAACTGGCACTGGGGCCTATCTGGCTGGAGAAGGCATTTACCTTGTCTTTGAGGTCTTTCTCTTCTACACTCCGTACATCCTGGATTGTAGTAAGAATGACTGGGTCTAGCATGGGCTGTAGAAATAAAATGCTACAGTTAAGAATTCCCGAAGCTGTCCCAAAAGTAG 55159568 55159738 55159714 55159715 55159715 upstr_intron -30 -0.5471698 CTACTTTTGGGACAGCTTCGGGAATTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG mutant NA NA NA NA NA 437 1591 0.9961199 0.9891886 0.9926542 0.9980007 0.9531863 0.8963719 0.9908938 NA NA 0.09974799 -0.001705191 0.9755935 0.9436328 NA 0.0490214 NA FALSE NA 0 -0.18 . intron_variant MODIFIER USP24 HGNC 12623 ENST00000407756 7/64 1 NA ACT C,T 2.065e-05 1:55159715 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00001623489 intron_variant 0.040707 0.1945 0.16638 0.062308 0.6435531 0.0873401 1 TRUE 4.63914e-05 ENSE00001623489_010 ENSE00001623489 010 1 55625242 55625411 - 42 75 53 C T 55625392 2012 20 CTAACTGGCACTGGGGCCTATCTGGCTGGAGAAGGCATTTACCTTGTCTTTGAGGTCTTTCTCTTCTACACTCCGTACATCCTGGATTGTAGTAAGAATGACTGGGTCTAGCATGGGCTGTAGAAATAAAATGCTACAGTTAAGAACTCCTGAAGCTGTCCCAAAAGTAG 55159568 55159738 55159718 55159719 55159719 upstr_intron -34 -0.6226415 CTACTTTTGGGACAGCTTCAGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG mutant NA NA NA NA NA 1261 486 0.9976263 0.977986 0.9878061 0.9980007 0.9531863 0.8963719 0.9908938 NA NA 0.1012543 -0.01290779 0.9755935 0.9436328 NA 0.04417327 NA FALSE NA 0 -0.167 . intron_variant MODIFIER USP24 HGNC 12623 ENST00000407756 7/64 1 NA CCG C,T 3.128e-05 1:55159719 USP24 HGNC Symbol protein_coding 148754 ENSG00000162402 ENSE00001623489 intron_variant -0.16136 0.11424 0.00782 0.099367 0.4245058 0.0873401 1 TRUE NA ENSE00001623489_BRK ENSE00001623489 BRK 1 55625242 55625411 - 42 75 53 A,G; T,T NA NA NA CTAACTGGCACTGGGGCCTATCTGGCTGGAGAAGGCATTTGGCTTGTCTTTGAGGTCTTTCTCTTCTACACTCCGTACATCCTGGATTGTAGTAAGAATGACTGGGTCTAGCATGGGAAGTAGAAATAAAATGCTACAGTTAAGAACTCCCGAAGCTGTCCCAAAAGTAG 55159568 55159738 NA NA NA NA NA NA CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACTTCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGCCAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG CTACTTTTGGGACAGCTTCGGGAGTTCTTAACTGTAGCATTTTATTTCTACAGCCCATGCTAGACCCAGTCATTCTTACTACAATCCAGGATGTACGGAGTGTAGAAGAGAAAGACCTCAAAGACAAGGTAAATGCCTTCTCCAGCCAGATAGGCCCCAGTGCCAGTTAG control NA NA NA NA NA 717 1272 0 0 0 0.9980007 0.9531863 0.8963719 0.9908938 NA NA -0.8963719 -0.9908938 0.9755935 0.9436328 NA -0.9436328 NA TRUE NA NA NA NA NA NA USP24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP24 NA NA NA ENSG00000162402 ENSE00001623489 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001623528_000 ENSE00001623528 000 2 152727006 152727175 - 39 81 50 NA NA NA NA NA GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG 151870491 151870661 NA NA NA NA NA NA GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG natural 122 201 0.8364028 0.828021 0.8322119 684 808 0.631418 0.6931195 0.6622687 0.8364028 0.828021 0.631418 0.6931195 0 0 0 0 0.8322119 0.6622687 0 0 0 FALSE FALSE NA NA NA NA NA CACNB4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNB4 NA NA NA ENSG00000182389 ENSE00001623528 NA NA NA NA NA NA NA 0.01136358 FALSE NA ENSE00001624107_000 ENSE00001624107 000 9 116279773 116279942 + 48 84 38 NA NA NA NA NA TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG 113517492 113517662 NA NA NA NA NA NA TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG natural 19 22 0.9990524 0.9956133 0.9973329 1259 863 0.9969353 0.99582 0.9963777 0.9990524 0.9956133 0.9969353 0.99582 0 0 0 0 0.9973329 0.9963777 0 0 0 FALSE FALSE NA NA NA NA NA RGS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGS3 NA NA NA ENSG00000138835 ENSE00003542863 NA NA NA NA NA NA NA 9.68169e-05 FALSE NA ENSE00001624107_001 ENSE00001624107 001 9 116279773 116279942 + 48 84 38 C T 116279784 1530 12 TCACCCAGCCTTTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG 113517492 113517662 113517503 113517504 113517504 upstr_intron -37 -0.75 TCACCCAGCCTTTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG mutant NA NA NA NA NA 141 625 0.8401995 0.9355478 0.8878736 0.9990524 0.9956133 0.9969353 0.99582 NA NA -0.1567358 -0.06027223 0.9973329 0.9963777 NA -0.108504 NA FALSE NA 0.001 0.723 . intron_variant MODIFIER RGS3 HGNC 9999 ENST00000317613 13/17 1 NA TCT C,T 8.236e-06 9:113517504 RGS3 HGNC Symbol protein_coding 153012 ENSG00000138835 ENSE00003542863 non_coding_transcript_exon_variant 1.201065 0.38723 0.02984 0.08998 0.8111484 0.747713 9.68169e-05 FALSE 5.31928e-05 ENSE00001624107_004 ENSE00001624107 004 9 116279773 116279942 + 48 84 38 A T 116279799 1533 27 TCACCCAGCCTCTTTTTGAACTGCCCTCTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG 113517492 113517662 113517518 113517519 113517519 upstr_intron -22 -0.4375 TCACCCAGCCTCTTTTTGAACTGCCCTCTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG mutant NA NA NA NA NA 666 218 0.9986951 0.994023 0.9963591 0.9990524 0.9956133 0.9969353 0.99582 NA NA 0.001759788 -0.001797007 0.9973329 0.9963777 NA -1.860949e-05 NA FALSE NA 0.005 0.16 . intron_variant MODIFIER RGS3 HGNC 9999 ENST00000317613 13/17 1 NA CAC A,T 2.471e-05 9:113517519 RGS3 HGNC Symbol protein_coding 153012 ENSG00000138835 ENSE00003542863 non_coding_transcript_exon_variant 1.559586 0.22212 0.0942 0.08998 0.9081958 0.287553 9.68169e-05 FALSE 1.22413e-05 ENSE00001624107_017 ENSE00001624107 017 9 116279773 116279942 + 48 84 38 G A 116279856 1546 84 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTACTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG 113517492 113517662 113517575 113517576 113517576 exon 36 0.4285714 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTACTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG mutant NA NA NA NA NA 82 117 0.9953937 1 0.9976969 0.9990524 0.9956133 0.9969353 0.99582 NA NA -0.001541579 0.004179982 0.9973329 0.9963777 NA 0.001319202 NA FALSE NA 1 3.778 . synonymous_variant LOW RGS3 HGNC 9999 ENST00000317613 14/18 1 NA TGC G,A 8.236e-06 9:113517576 RGS3 HGNC Symbol protein_coding 153012 ENSG00000138835 ENSE00003542863 synonymous_variant 1.008133 0.94063 0.88297 0.645754 0.9019597 0 9.68169e-05 FALSE 4.06151e-06 ENSE00001624107_018 ENSE00001624107 018 9 116279773 116279942 + 48 84 38 G T 116279859 1547 87 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTTTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG 113517492 113517662 113517578 113517579 113517579 exon 39 0.4642857 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTTTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG mutant NA NA NA NA NA 93 18 1 0.953587 0.9767935 0.9990524 0.9956133 0.9969353 0.99582 NA NA 0.003064693 -0.04223303 0.9973329 0.9963777 NA -0.01958417 NA FALSE NA 1 2.47 . synonymous_variant LOW RGS3 HGNC 9999 ENST00000317613 14/18 1 NA TGT G,T 8.236e-06 9:113517579 RGS3 HGNC Symbol protein_coding 153012 ENSG00000138835 ENSE00003542863 synonymous_variant 0.847765 0.91773 0.83829 0.645754 0.8680646 0 9.68169e-05 FALSE 2.43677e-05 ENSE00001624107_019 ENSE00001624107 019 9 116279773 116279942 + 48 84 38 G A 116279866 1548 94 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGAAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG 113517492 113517662 113517585 113517586 113517586 exon -39 0.547619 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGAAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG mutant NA NA NA NA NA 158 118 0.997632 1 0.998816 0.9990524 0.9956133 0.9969353 0.99582 NA NA 0.0006966546 0.004179982 0.9973329 0.9963777 NA 0.002438318 NA FALSE NA 1 6.923 rs142653039 missense_variant MODERATE RGS3 HGNC 9999 ENST00000317613 14/18 rs142653039 1 deleterious(0) probably_damaging(0.947) NA A:0 A:0.0001 GGA G,A 8.236e-06 9:113517586 RGS3 HGNC Symbol protein_coding 153012 ENSG00000138835 ENSE00003542863 missense_variant 6.663605 0.96217 0.95209 0.645754 0.999258 0 9.68169e-05 FALSE 8.12229e-06 ENSE00001624107_020 ENSE00001624107 020 9 116279773 116279942 + 48 84 38 G T 116279871 1549 99 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTTCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG 113517492 113517662 113517590 113517591 113517591 exon -34 0.6071429 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTTCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG mutant NA NA NA NA NA 153 51 0.9821199 1 0.9910599 0.9990524 0.9956133 0.9969353 0.99582 NA NA -0.01481541 0.004179982 0.9973329 0.9963777 NA -0.005317713 NA FALSE NA 1 3.205 . synonymous_variant LOW RGS3 HGNC 9999 ENST00000317613 14/18 1 NA TGC G,T 2.471e-05 9:113517591 RGS3 HGNC Symbol protein_coding 153012 ENSG00000138835 ENSE00003542863 synonymous_variant 0.690154 0.91904 0.78751 0.645754 0.8442199 0 9.68169e-05 FALSE 1.2184e-05 ENSE00001624107_028 ENSE00001624107 028 9 116279773 116279942 + 48 84 38 G A 116279902 1557 130 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCAAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG 113517492 113517662 113517621 113517622 113517622 exon -3 0.9761905 TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCAAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG TCACCCAGCCTCTTTTTGAACTGCCCACTCAGCCTGCTTTATTTCCAGCCTCTAGATCTCTGTAATCCTGCCCGGACCCTCCTGCTGTCAGAGGAGCTGCTGCTGTATGAAGGGAGGAACAAGGCTGCCGAGGTAAGACTTTCACCTGCATTTTTTAGGGGGCTTTCTGG mutant NA NA NA NA NA 204 16 1 1 1 0.9990524 0.9956133 0.9969353 0.99582 NA NA 0.003064693 0.004179982 0.9973329 0.9963777 NA 0.003622338 NA FALSE NA 0.975 1.866 . missense_variant&splice_region_variant MODERATE RGS3 HGNC 9999 ENST00000317613 14/18 1 tolerated(1) benign(0.003) NA CGA G,A 1.647e-05 9:113517622 RGS3 HGNC Symbol protein_coding 153012 ENSG00000138835 ENSE00003542863 missense_variant 1.498706 0.81713 0.34082 0.645754 0.8502119 0 9.68169e-05 FALSE 2.84451e-05 ENSE00001624623_000 ENSE00001624623 000 7 87774386 87774555 + 54 72 44 NA NA NA NA NA GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 NA NA NA NA NA NA GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG natural 12 22 0.9983962 0.9885277 0.993462 4897 5505 0.9135284 0.9220624 0.9177954 0.9983962 0.9885277 0.9135284 0.9220624 0 0 0 0 0.993462 0.9177954 0 0 0 FALSE FALSE NA NA NA NA NA ADAM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM22 NA NA NA ENSG00000008277 ENSE00001624623 NA NA NA NA NA NA NA 0.9993889 TRUE NA ENSE00001624623_001 ENSE00001624623 001 7 87774386 87774555 + 54 72 44 C T 87774405 1402 20 GTCTTTGATGTTGATTTTTTTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145089 88145090 88145090 upstr_intron -35 -0.6296296 GTCTTTGATGTTGATTTTTTTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 381 671 0.9946937 0.9950287 0.9948612 0.9983962 0.9885277 0.9135284 0.9220624 NA NA 0.08116537 0.07296629 0.993462 0.9177954 NA 0.07706583 NA FALSE NA 0 0.294 . intron_variant MODIFIER ADAM22 HGNC 201 ENST00000398209 15/30 1 NA TCT C,T 3.311e-05 7:88145090 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 intron_variant 0.383273 0.18136 0.02096 0.078448 0.6411708 0.152352 0.9993889 TRUE 3.77615e-05 ENSE00001624623_002 ENSE00001624623 002 7 87774386 87774555 + 54 72 44 A G 87774407 1403 22 GTCTTTGATGTTGATTTTTCTGTATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145091 88145092 88145092 upstr_intron -33 -0.5925926 GTCTTTGATGTTGATTTTTCTGTATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 418 29 0.9999015 0.9889333 0.9944174 0.9983962 0.9885277 0.9135284 0.9220624 NA NA 0.08637314 0.0668709 0.993462 0.9177954 NA 0.07662202 NA FALSE NA 0 -0.586 rs145107858 intron_variant MODIFIER ADAM22 HGNC 201 ENST00000398209 15/30 rs145107858 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAT A,G 4.967e-05 7:88145092 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 intron_variant 1.204388 0.18368 0.02491 0.078448 0.8279402 0.151247 0.9993889 TRUE 5.00592e-05 ENSE00001624623_004 ENSE00001624623 004 7 87774386 87774555 + 54 72 44 G C 87774426 1405 41 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTCGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145110 88145111 88145111 upstr_intron -14 -0.2407407 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTCGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 727 149 0.9986998 0.9989371 0.9988185 0.9983962 0.9885277 0.9135284 0.9220624 NA NA 0.08517145 0.07687469 0.993462 0.9177954 NA 0.08102307 NA FALSE NA 0.001 0.345 . intron_variant MODIFIER ADAM22 HGNC 201 ENST00000398209 15/30 1 NA TGG G,C 8.278e-06 7:88145111 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 intron_variant -0.478439 0.27066 0.22361 0.162113 0.5489787 0.151247 0.9993889 TRUE 4.12643e-06 ENSE00001624623_005 ENSE00001624623 005 7 87774386 87774555 + 54 72 44 C T 87774433 1406 48 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCTTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145117 88145118 88145118 upstr_intron -7 -0.1111111 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCTTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 98 161 0.980502 1 0.990251 0.9983962 0.9885277 0.9135284 0.9220624 NA NA 0.06697366 0.0779376 0.993462 0.9177954 NA 0.07245563 NA FALSE NA 0 -1.419 . splice_region_variant&intron_variant LOW ADAM22 HGNC 201 ENST00000398209 15/30 rs375811748 1 NA T:0 T:0.0002 CCT C,T 3.311e-05 7:88145118 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 splice_region_variant 0.539171 0.21931 0.0276 0.162113 0.4953184 0.165593 0.9993889 TRUE 1.23202e-05 ENSE00001624623_006 ENSE00001624623 006 7 87774386 87774555 + 54 72 44 T C 87774460 1407 75 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGCGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145144 88145145 88145145 exon 21 0.2916667 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGCGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 388 635 0.9922304 1 0.9961152 0.9983962 0.9885277 0.9135284 0.9220624 NA NA 0.07870202 0.0779376 0.993462 0.9177954 NA 0.07831981 NA FALSE NA 1 1.832 . synonymous_variant LOW ADAM22 HGNC 201 ENST00000398209 16/31 1 NA GTG T,C 8.277e-06 7:88145145 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 synonymous_variant 0.416598 0.97963 0.88878 0.706298 0.7002099 0 0.9993889 TRUE 1.62566e-05 ENSE00001624623_007 ENSE00001624623 007 7 87774386 87774555 + 54 72 44 T C 87774474 1408 89 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCACTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145158 88145159 88145159 exon 35 0.4861111 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCACTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 19 392 0.9531615 0.9343852 0.9437734 0.9983962 0.9885277 0.9135284 0.9220624 NA NA 0.03963315 0.01232281 0.993462 0.9177954 NA 0.02597798 NA FALSE NA 1 7.334 . missense_variant MODERATE ADAM22 HGNC 201 ENST00000398209 16/31 rs370077891 1 deleterious(0) possibly_damaging(0.497) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 C:0.0003 C:0 ATT T,C 9.932e-05 7:88145159 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 missense_variant 4.288287 0.99245 0.98622 0.706298 0.9985965 0 0.9993889 TRUE 8.93938e-05 ENSE00001624623_011 ENSE00001624623 011 7 87774386 87774555 + 54 72 44 G A 87774522 1412 137 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTAGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145206 88145207 88145207 downstr_intron 11 1.255814 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTAGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 1291 238 0.9980715 0.9993349 0.9987032 0.9983962 0.9885277 0.9135284 0.9220624 NA NA 0.08454315 0.07727252 0.993462 0.9177954 NA 0.08090783 NA FALSE NA 0.17 1.095 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:88145207 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 intron_variant 0.179209 0.25132 0.04795 0.078448 0.4347463 0.166745 0.9993889 TRUE 4.0702e-06 ENSE00001624623_012 ENSE00001624623 012 7 87774386 87774555 + 54 72 44 G C 87774522 1413 137 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTCGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145206 88145207 88145207 downstr_intron 11 1.255814 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTCGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 587 295 0.9602976 0.9983882 0.9793429 0.9983962 0.9885277 0.9135284 0.9220624 NA NA 0.04676925 0.07632585 0.993462 0.9177954 NA 0.06154755 NA FALSE NA 0.17 1.095 NA NA NA ADAM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM22 NA NA NA ENSG00000008277 ENSE00001624623 intron_variant -0.145485 0.246 0.1042 0.078448 0.3191535 0.166745 0.9993889 TRUE 1.22106e-05 ENSE00001624623_013 ENSE00001624623 013 7 87774386 87774555 + 54 72 44 T C 87774524 1414 139 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGCTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145208 88145209 88145209 downstr_intron 13 1.302326 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGCTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 758 333 0.9061966 0.9841888 0.9451927 0.9983962 0.9885277 0.9135284 0.9220624 NA NA -0.007331726 0.06212638 0.993462 0.9177954 NA 0.02739733 NA FALSE NA 0.033 0.398 . intron_variant MODIFIER ADAM22 HGNC 201 ENST00000398209 16/30 rs376007071 1 NA C:0 C:0.0001 GTT T,C 8.276e-05 7:88145209 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 intron_variant -0.018052 0.22426 0.07739 0.078448 0.358363 0.152352 0.9993889 TRUE 4.8852e-05 ENSE00001624623_014 ENSE00001624623 014 7 87774386 87774555 + 54 72 44 A G 87774532 1415 147 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGGTGATATTTTCTAGGTAATTCAGG 88145070 88145240 88145216 88145217 88145217 downstr_intron 21 1.488372 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGGTGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 551 521 0.8864095 0.9996339 0.9430217 0.9983962 0.9885277 0.9135284 0.9220624 NA NA -0.02711888 0.07757154 0.993462 0.9177954 NA 0.02522633 NA FALSE NA 0 0.68 . intron_variant MODIFIER ADAM22 HGNC 201 ENST00000398209 16/30 1 NA GAT A,G 8.276e-06 7:88145217 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 intron_variant 0.283441 0.21883 0.15745 0.078448 0.5403233 0.152352 0.9993889 TRUE 4.08113e-06 ENSE00001624623_015 ENSE00001624623 015 7 87774386 87774555 + 54 72 44 A G 87774535 1416 150 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGGTATTTTCTAGGTAATTCAGG 88145070 88145240 88145219 88145220 88145220 downstr_intron 24 1.55814 GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGGTATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG mutant NA NA NA NA NA 334 268 0.8209211 1 0.9104605 0.9983962 0.9885277 0.9135284 0.9220624 NA NA -0.09260727 0.0779376 0.993462 0.9177954 NA -0.007334832 NA FALSE NA 0 -1.079 . intron_variant MODIFIER ADAM22 HGNC 201 ENST00000398209 16/30 1 NA GAT A,G 8.276e-06 7:88145220 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001624623 intron_variant -0.231384 0.16444 0.04696 0.078448 0.360553 0.152352 0.9993889 TRUE 4.08781e-06 ENSE00001624623_BRK ENSE00001624623 BRK 7 87774386 87774555 + 54 72 44 A,G; T,T NA NA NA GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACTTCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCCCAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG 88145070 88145240 NA NA NA NA NA NA GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACTTCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCCCAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG GTCTTTGATGTTGATTTTTCTATATTTTAGTTCACTTTTTGGTTTTCCTCACAGCTTCTTGATCCTCCTGAGTGTGGCAATGGCTTCATTGAAACTGGAGAGGAGTGTGATTGTGGAACCCCGGCCGTAAGTCTCTGGTTGTTTTGATGATATTTTCTAGGTAATTCAGG control 57 44 0 0 0 NA NA NA NA NA 0.9983962 0.9885277 0.9135284 0.9220624 -0.9983962 -0.9885277 NA NA 0.993462 0.9177954 -0.993462 NA NA NA TRUE NA NA NA NA NA ADAM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM22 NA NA NA ENSG00000008277 ENSE00001624623 NA NA NA NA NA NA NA 0.9993889 TRUE NA ENSE00001625249_000 ENSE00001625249 000 22 30862937 30863106 - 32 96 42 NA NA NA NA NA AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 NA NA NA NA NA NA CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT natural 166 177 0.9854821 0.9663917 0.9759369 2945 7083 0.9282698 0.9701465 0.9492082 0.9854821 0.9663917 0.9282698 0.9701465 0 0 0 0 0.9759369 0.9492082 0 0 0 FALSE FALSE NA NA NA NA NA SEC14L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC14L3 NA NA NA ENSG00000100012 ENSE00003655343 NA NA NA NA NA NA NA 4.210578e-18 FALSE NA ENSE00001625249_001 ENSE00001625249 001 22 30862937 30863106 - 32 96 42 C G 30862952 475 155 AAGCGGGGGGTGGCCGTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30466964 30466965 30466965 downstr_intron 17 1.548387 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTACGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 133 221 1 0.9816758 0.9908379 0.9854821 0.9663917 0.9282698 0.9701465 NA NA 0.07173016 0.01152935 0.9759369 0.9492082 NA 0.04162976 NA FALSE NA 0 -0.639 . intron_variant MODIFIER SEC14L3 HGNC 18655 ENST00000540910 6/11 rs368660045 1 NA G:0 G:0.0001 CCT C,G 8.237e-06 22:30466965 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 intron_variant -0.572447 0.12794 0.02189 0 0.3975444 0.0471795 4.210578e-18 FALSE 4.0937e-06 ENSE00001625249_003 ENSE00001625249 003 22 30862937 30863106 - 32 96 42 T C 30862965 477 142 AAGCGGGGGGTGGCCCTAGGACTTCTCCCTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30466977 30466978 30466978 downstr_intron 4 1.129032 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAGGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 436 620 0.0208056 0.05038811 0.03559685 0.9854821 0.9663917 0.9282698 0.9701465 NA NA -0.9074642 -0.9197584 0.9759369 0.9492082 NA -0.9136113 NA TRUE NA 1 3.059 . splice_region_variant&intron_variant LOW SEC14L3 HGNC 18655 ENST00000540910 6/11 1 NA CTT T,C 8.236e-06 22:30466978 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 splice_region_variant 0.671371 0.96795 0.79131 0 0.816002 0.199861 4.210578e-18 FALSE 4.06716e-06 ENSE00001625249_004 ENSE00001625249 004 22 30862937 30863106 - 32 96 42 T C 30862966 478 141 AAGCGGGGGGTGGCCCTAGGACTTCTCCTCACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30466978 30466979 30466979 downstr_intron 3 1.096774 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTGAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 1090 256 0.000448924 0.007957869 0.004203397 0.9854821 0.9663917 0.9282698 0.9701465 NA NA -0.9278209 -0.9621886 0.9759369 0.9492082 NA -0.9450048 NA TRUE NA 0.999 0.336 . splice_region_variant&intron_variant LOW SEC14L3 HGNC 18655 ENST00000540910 6/11 1 NA TTA T,C 8.236e-06 22:30466979 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 splice_region_variant 0.4877 0.94111 0.23213 0 0.5912675 0.200596 4.210578e-18 FALSE 4.06666e-06 ENSE00001625249_005 ENSE00001625249 005 22 30862937 30863106 - 32 96 42 C T 30862968 479 139 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTATCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30466980 30466981 30466981 downstr_intron 1 1.032258 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGATAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 2080 759 0.04651567 0.00151163 0.02401365 0.9854821 0.9663917 0.9282698 0.9701465 NA NA -0.8817542 -0.9686348 0.9759369 0.9492082 NA -0.9251945 NA TRUE NA 1 7.335 . splice_donor_variant HIGH SEC14L3 HGNC 18655 ENST00000540910 6/11 rs200869785 1 NA HC ACC C,T 1.647e-05 22:30466981 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 splice_donor_variant 4.967791 0.99077 0.97518 0 0.9956123 0.966623 4.210578e-18 FALSE 8.13253e-06 ENSE00001625249_006 ENSE00001625249 006 22 30862937 30863106 - 32 96 42 C T 30862972 480 135 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCTTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30466984 30466985 30466985 exon -4 0.96875 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAAGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 359 756 0.9943213 0.9387164 0.9665189 0.9854821 0.9663917 0.9282698 0.9701465 NA NA 0.06605147 -0.03143002 0.9759369 0.9492082 NA 0.01731073 NA FALSE NA 0.998 1.039 rs147755743 synonymous_variant LOW SEC14L3 HGNC 18655 ENST00000540910 6/12 rs147755743 1 NA T:0 T:0.0001 CCT C,T 8.236e-06 22:30466985 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 synonymous_variant 1.101167 0.95602 0.55769 0.497415 0.777207 0 4.210578e-18 FALSE 4.06372e-06 ENSE00001625249_009 ENSE00001625249 009 22 30862937 30863106 - 32 96 42 C A 30862996 483 111 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTACAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467008 30467009 30467009 exon -28 0.71875 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGTAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 48 93 0.8 0.8027119 0.8013559 0.9854821 0.9663917 0.9282698 0.9701465 NA NA -0.1282698 -0.1674346 0.9759369 0.9492082 NA -0.1478522 NA FALSE NA 1 4.523 . missense_variant MODERATE SEC14L3 HGNC 18655 ENST00000540910 6/12 rs570127053 1 deleterious(0) probably_damaging(0.998) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TCC C,A 8.236e-06 22:30467009 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 missense_variant 6.899473 0.99145 0.96393 0.497415 0.9929554 0 4.210578e-18 FALSE 4.06154e-06 ENSE00001625249_010 ENSE00001625249 010 22 30862937 30863106 - 32 96 42 C T 30863008 484 99 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTTAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467020 30467021 30467021 exon -40 0.59375 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTAAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 25 284 1 0.8688222 0.9344111 0.9854821 0.9663917 0.9282698 0.9701465 NA NA 0.07173016 -0.1013242 0.9759369 0.9492082 NA -0.01479703 NA FALSE NA 1 3.691 rs142636401 synonymous_variant LOW SEC14L3 HGNC 18655 ENST00000540910 6/12 rs142636401 1 NA T:0.0002 T:0 TCA C,T 8.236e-06 22:30467021 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 synonymous_variant 1.200256 0.98553 0.93833 0.497415 0.8462523 0 4.210578e-18 FALSE NA ENSE00001625249_011 ENSE00001625249 011 22 30862937 30863106 - 32 96 42 T G 30863011 485 96 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGGCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467023 30467024 30467024 exon -43 0.5625 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGCCTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 727 103 0.9974823 0.9842198 0.990851 0.9854821 0.9663917 0.9282698 0.9701465 NA NA 0.06921249 0.0140733 0.9759369 0.9492082 NA 0.0416429 NA FALSE NA 0.738 -0.321 . synonymous_variant LOW SEC14L3 HGNC 18655 ENST00000540910 6/12 1 NA GTC T,G 8.236e-06 22:30467024 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 synonymous_variant 0.545355 0.91755 0.28956 0.497415 0.6961941 0 4.210578e-18 FALSE 4.06124e-06 ENSE00001625249_012 ENSE00001625249 012 22 30862937 30863106 - 32 96 42 C A 30863012 486 95 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTACCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467024 30467025 30467025 exon -44 0.5520833 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGTACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 244 105 0.7501076 0.6323896 0.6912486 0.9854821 0.9663917 0.9282698 0.9701465 NA NA -0.1781622 -0.3377569 0.9759369 0.9492082 NA -0.2579595 NA FALSE NA 1 7.35 . missense_variant MODERATE SEC14L3 HGNC 18655 ENST00000540910 6/12 1 deleterious(0) probably_damaging(0.998) NA TCC C,A 8.236e-06 22:30467025 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 missense_variant 6.544066 0.99145 0.98103 0.497415 0.9979733 0 4.210578e-18 FALSE 4.06134e-06 ENSE00001625249_013 ENSE00001625249 013 22 30862937 30863106 - 32 96 42 C T 30863024 487 83 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCATAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467036 30467037 30467037 exon 41 0.4270833 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTATGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 180 773 1 0.9924478 0.9962239 0.9854821 0.9663917 0.9282698 0.9701465 NA NA 0.07173016 0.02230134 0.9759369 0.9492082 NA 0.04701575 NA FALSE NA 0.655 1.245 . missense_variant MODERATE SEC14L3 HGNC 18655 ENST00000540910 6/12 1 deleterious(0.03) possibly_damaging(0.464) NA ACA C,T 8.236e-06 22:30467037 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 missense_variant 5.857552 0.97103 0.69809 0.497415 0.9957945 0 4.210578e-18 FALSE 4.06114e-06 ENSE00001625249_014 ENSE00001625249 014 22 30862937 30863106 - 32 96 42 A G 30863030 488 77 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAGATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467042 30467043 30467043 exon 35 0.3645833 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATCTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 110 165 1 1 1 0.9854821 0.9663917 0.9282698 0.9701465 NA NA 0.07173016 0.02985353 0.9759369 0.9492082 NA 0.05079185 NA FALSE NA 1 2.836 . missense_variant MODERATE SEC14L3 HGNC 18655 ENST00000540910 6/12 1 deleterious(0) benign(0.309) NA AAA A,G 8.236e-06 22:30467043 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 missense_variant 5.899002 0.97464 0.83649 0.497415 0.9982196 0 4.210578e-18 FALSE 4.06114e-06 ENSE00001625249_015 ENSE00001625249 015 22 30862937 30863106 - 32 96 42 C A 30863038 489 69 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATAACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467050 30467051 30467051 exon 27 0.28125 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTTATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 465 401 0.8582244 0.8494642 0.8538443 0.9854821 0.9663917 0.9282698 0.9701465 NA NA -0.0700454 -0.1206823 0.9759369 0.9492082 NA -0.09536386 NA FALSE NA 0.021 -0.955 . synonymous_variant LOW SEC14L3 HGNC 18655 ENST00000540910 6/12 1 NA TCA C,A 8.236e-06 22:30467051 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 synonymous_variant 1.889641 0.95522 0.1487 0.497415 0.8352662 0 4.210578e-18 FALSE 4.06124e-06 ENSE00001625249_016 ENSE00001625249 016 22 30862937 30863106 - 32 96 42 C T 30863040 490 67 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCATGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467052 30467053 30467053 exon 25 0.2604167 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCATGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 11 1817 1 0.965868 0.982934 0.9854821 0.9663917 0.9282698 0.9701465 NA NA 0.07173016 -0.004278508 0.9759369 0.9492082 NA 0.03372583 NA FALSE NA 0.922 0.87 rs115617635 missense_variant MODERATE SEC14L3 HGNC 18655 ENST00000540910 6/12 rs115617635 1 tolerated(0.22) benign(0.066) T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 ACG C,T 0.0002059 22:30467053 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 missense_variant 3.230007 0.96023 0.49601 0.497415 0.9915496 0 4.210578e-18 FALSE 0.000255869 ENSE00001625249_018 ENSE00001625249 018 22 30862937 30863106 - 32 96 42 T C 30863043 492 64 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGACGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467055 30467056 30467056 exon 22 0.2291667 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCGTCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 63 88 1 1 1 0.9854821 0.9663917 0.9282698 0.9701465 NA NA 0.07173016 0.02985353 0.9759369 0.9492082 NA 0.05079185 NA FALSE NA 1 4.578 . missense_variant MODERATE SEC14L3 HGNC 18655 ENST00000540910 6/12 1 tolerated(0.67) benign(0.022) NA ATG T,C 8.236e-06 22:30467056 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 missense_variant 2.601789 0.97426 0.82997 0.497415 0.9448109 0 4.210578e-18 FALSE 4.06128e-06 ENSE00001625249_024 ENSE00001625249 024 22 30862937 30863106 - 32 96 42 T C 30863066 498 41 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCCGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 30467078 30467079 30467079 upstr_intron -2 -0.02380952 CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCGGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 414 226 0.2160303 0.03243427 0.1242323 0.9854821 0.9663917 0.9282698 0.9701465 NA NA -0.7122395 -0.9377122 0.9759369 0.9492082 NA -0.8249759 NA TRUE NA 1 7.556 . splice_acceptor_variant HIGH SEC14L3 HGNC 18655 ENST00000540910 5/11 1 NA HC CTG T,C 8.236e-06 22:30467079 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 splice_acceptor_variant 3.834775 0.98846 0.97403 0.06567 0.9948701 0.780608 4.210578e-18 FALSE 4.0621e-06 ENSE00001625249_025 ENSE00001625249 025 22 30862937 30863106 - 32 96 42 T C 30863090 499 17 AAGCGGGGGGTGGCCCTAGGACTTCTCCTTACCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGCTGCAAGGATGAGAGCAAGAAGTAGCTCTGGAGTTCAGGGTG 30466949 30467119 30467102 30467103 30467103 upstr_intron -26 -0.5952381 CACCCTGAACTCCAGAGCTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT mutant NA NA NA NA NA 163 1168 0.7743315 0.8006492 0.7874903 0.9854821 0.9663917 0.9282698 0.9701465 NA NA -0.1539383 -0.1694973 0.9759369 0.9492082 NA -0.1617178 NA FALSE NA 0 0.618 . intron_variant MODIFIER SEC14L3 HGNC 18655 ENST00000540910 5/11 1 NA GTT T,C 2.471e-05 22:30467103 SEC14L3 HGNC Symbol protein_coding 24090 ENSG00000100012 ENSE00003655343 intron_variant -0.077901 0.19486 0.01816 0.06567 0.5232313 0.053652 4.210578e-18 FALSE 2.44e-05 ENSE00001625249_BRK ENSE00001625249 BRK 22 30862937 30863106 - 32 96 42 A,G; T,T NA NA NA AAGCGGGGGGTGGCCCTAGGACTTCTCCTTGGCTCCTGGTACACTTCTACCAGAGGTTTCCAGAAGTGTTTCAGTCCCAGGCCCTCACAGTCAAATATCATCACGATGGTCTCAATCTTCTTCCCTAGAAGCAAGGATGAGAGCAAGAAGTAGTTCTGGAGTTCAGGGTG 30466949 30467119 NA NA NA NA NA NA CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCTTCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGCCAAGGAGAAGTCCTAGGGCCACCCCCCGCTT CACCCTGAACTCCAGAACTACTTCTTGCTCTCATCCTTGCAGCTAGGGAAGAAGATTGAGACCATCGTGATGATATTTGACTGTGAGGGCCTGGGACTGAAACACTTCTGGAAACCTCTGGTAGAAGTGTACCAGGAGGTAAGGAGAAGTCCTAGGGCCACCCCCCGCTT control 63 88 0 0.007408408 0.003704204 NA NA NA NA NA 0.9854821 0.9663917 0.9282698 0.9701465 -0.9854821 -0.9589833 NA NA 0.9759369 0.9492082 -0.9722327 NA NA NA TRUE NA NA NA NA NA SEC14L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC14L3 NA NA NA ENSG00000100012 ENSE00003655343 NA NA NA NA NA NA NA 4.210578e-18 FALSE NA ENSE00001625323_000 ENSE00001625323 000 1 86249131 86249300 - 48 63 59 NA NA NA NA NA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA 85783447 85783617 NA NA NA NA NA NA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA natural NA NA NA NA NA 1506 310 0.9549911 0.9510717 0.9530314 NA NA 0.9549911 0.9510717 NA NA 0 0 NA 0.9530314 NA 0 NA FALSE NA NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003575300 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001625323_001 ENSE00001625323 001 1 86249131 86249300 - 48 63 59 C T 86249145 2209 156 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTATGGTTCTTTGCTTA 85783447 85783617 85783461 85783462 85783462 downstr_intron 34 1.723404 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTATGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA mutant NA NA NA NA NA 40 1383 0.95 0.9479011 0.9489506 NA NA 0.9549911 0.9510717 NA NA -0.004991135 -0.00317056 NA 0.9530314 NA -0.004080847 NA FALSE NA 0 -0.446 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 51/57 1 NA ACA C,T 9.102e-05 1:85783462 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003575300 intron_variant 0.355271 0.16867 0.04308 0.163922 0.5665264 0.132559 1.063411e-25 FALSE 5.32717e-05 ENSE00001625323_002 ENSE00001625323 002 1 86249131 86249300 - 48 63 59 A G 86249147 2210 154 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAACTGTGGTTCTTTGCTTA 85783447 85783617 85783463 85783464 85783464 downstr_intron 32 1.680851 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAACTGTGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA mutant NA NA NA NA NA 100 17 0.9231165 0.95 0.9365583 NA NA 0.9549911 0.9510717 NA NA -0.03187463 -0.001071668 NA 0.9530314 NA -0.01647315 NA FALSE NA 0 -0.586 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 51/57 1 NA AAT A,G 8.275e-06 1:85783464 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003575300 intron_variant -0.069554 0.09152 0.01574 0.163922 0.6271051 0.105066 1.063411e-25 FALSE 4.09346e-06 ENSE00001625323_011 ENSE00001625323 011 1 86249131 86249300 - 48 63 59 T C 86249206 2219 95 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCGGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA 85783447 85783617 85783522 85783523 85783523 exon -28 0.5714286 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCGGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA mutant NA NA NA NA NA 63 460 1 0.9953623 0.9976812 NA NA 0.9549911 0.9510717 NA NA 0.04500887 0.04429063 NA 0.9530314 NA 0.04464975 NA FALSE NA 1 1.16 rs7520146 synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 51/58 rs7520146 1 C:0.0254 C:0.0212 C:0.0231 NA C:0.0198 C:0.0427 C:0.0204 C:0.0207 C:0.0414 CTG T,C 0.032 1:85783523 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003575300 synonymous_variant 0.662418 0.93682 0.74684 0.6512 0.6741526 0 1.063411e-25 FALSE 0.0310612 ENSE00001625323_020 ENSE00001625323 020 1 86249131 86249300 - 48 63 59 T C 86249249 2228 52 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTGTGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA 85783447 85783617 85783565 85783566 85783566 upstr_intron -8 -0.1186441 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTGTGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA mutant 13 18 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9549911 0.9510717 NA NA NA NA NA 0.9530314 NA NA NA NA NA 0.875 0.367 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 50/57 1 NA ATA T,C 3.312e-05 1:85783566 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003575300 splice_region_variant -0.281357 0.20516 0.4177 0.106106 0.4638983 0.146483 1.063411e-25 FALSE 3.66455e-05 ENSE00001625323_022 ENSE00001625323 022 1 86249131 86249300 - 48 63 59 A G 86249253 2230 48 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTACTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA 85783447 85783617 85783569 85783570 85783570 upstr_intron -12 -0.1864407 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTACTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA mutant NA NA NA NA NA 1298 3281 0.8038416 0.8006712 0.8022564 NA NA 0.9549911 0.9510717 NA NA -0.1511496 -0.1504004 NA 0.9530314 NA -0.150775 NA FALSE NA 0.613 0.832 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:85783570 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003575300 intron_variant -0.072625 0.23007 0.3564 0.088506 0.5958473 0.123975 1.063411e-25 FALSE 4.07637e-06 ENSE00001625323_023 ENSE00001625323 023 1 86249131 86249300 - 48 63 59 A C 86249253 2231 48 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTAGTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA 85783447 85783617 85783569 85783570 85783570 upstr_intron -12 -0.1864407 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTAGTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA mutant 50 84 0 0 0 NA NA NA NA NA NA NA 0.9549911 0.9510717 NA NA NA NA NA 0.9530314 NA NA NA NA NA 0.613 0.832 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003575300 intron_variant -0.26963 0.25238 0.55905 0.088506 0.5875313 0.123975 1.063411e-25 FALSE 8.15275e-06 ENSE00001625323_025 ENSE00001625323 025 1 86249131 86249300 - 48 63 59 A C 86249259 2233 42 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTGTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA 85783447 85783617 85783575 85783576 85783576 upstr_intron -18 -0.2881356 TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTGTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA mutant NA NA NA NA NA 18 259 0.6914605 0.8 0.7457303 NA NA 0.9549911 0.9510717 NA NA -0.2635306 -0.1510717 NA 0.9530314 NA -0.2073011 NA FALSE NA 0 0.694 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 50/57 1 NA AAA A,C 2.484e-05 1:85783576 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003575300 intron_variant -0.139356 0.31037 0.19462 0.088506 0.6812099 0.0682314 1.063411e-25 FALSE 1.63244e-05 ENSE00001625323_027 ENSE00001625323 027 1 86249131 86249300 - 48 63 59 T C 86249278 2235 23 TGTAAAATGTTCATATAGAGCTGCAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA 85783447 85783617 85783594 85783595 85783595 upstr_intron -37 -0.6101695 TGTAAAATGTTCATATAGAGCTGCAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA TGTAAAATGTTCATATAGAGCTACAAATTTTATCTTTTTGTTTCTTATTGTATGTCTAGGGTCCTGAAGGGGATGCTGGCATTGTTGGGATATCAGGTCCTAAAGGTCCTATTGGACACAGAGTAAGTGTAAAGTCATTCTGCCTACCAGAAATTGTGGTTCTTTGCTTA mutant NA NA NA NA NA 1222 127 0.9745002 0.9607929 0.9676465 NA NA 0.9549911 0.9510717 NA NA 0.01950907 0.00972122 NA 0.9530314 NA 0.01461515 NA FALSE NA 0.001 0.247 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 50/57 1 NA GTA T,C 8.282e-06 1:85783595 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003575300 intron_variant 0.136707 0.20417 0.10082 0.088506 0.7124741 0.0443366 1.063411e-25 FALSE 4.12239e-06 ENSE00001625403_000 ENSE00001625403 000 17 17050577 17050746 + 56 69 45 NA NA NA NA NA CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 NA NA NA NA NA NA CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG natural 49 38 0.9884428 0.9409455 0.9646941 1161 2916 0.8583656 0.9424915 0.9004286 0.9884428 0.9409455 0.8583656 0.9424915 0 0 0 0 0.9646941 0.9004286 0 0 0 FALSE FALSE NA NA NA NA NA MPRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPRIP NA NA NA ENSG00000133030 ENSE00001625403 NA NA NA NA NA NA NA 0.870658 FALSE NA ENSE00001625403_002 ENSE00001625403 002 17 17050577 17050746 + 56 69 45 A G 17050589 833 13 CAGGCATGCTGTGTAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147274 17147275 17147275 upstr_intron -44 -0.7678571 CAGGCATGCTGTGTAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant 29 82 0.995852 0.9551221 0.975487 NA NA NA NA NA 0.9884428 0.9409455 0.8583656 0.9424915 0.007409177 0.01417663 NA NA 0.9646941 0.9004286 0.01079291 NA NA NA FALSE 0 -1.254 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 rs367612838 1 NA G:0.0002 G:0.0001 TAT A,G 1.647e-05 17:17147275 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 intron_variant 0.077316 0.25204 0.09574 0.062308 0.3364831 0.0526402 0.870658 FALSE 2.84453e-05 ENSE00001625403_005 ENSE00001625403 005 17 17050577 17050746 + 56 69 45 C T 17050604 836 28 CAGGCATGCTGTATAGGAGTTGGTAGTTGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147289 17147290 17147290 upstr_intron -29 -0.5 CAGGCATGCTGTATAGGAGTTGGTAGTTGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 1067 76 0.999575 1 0.9997875 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1412093 0.05750846 0.9646941 0.9004286 NA 0.0993589 NA FALSE NA 0.014 -0.307 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA TCG C,T 8.236e-06 17:17147290 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 intron_variant 0.17565 0.1863 0.00717 0.099367 0.8180721 0.11304 0.870658 FALSE 4.06124e-06 ENSE00001625403_006 ENSE00001625403 006 17 17050577 17050746 + 56 69 45 G A 17050605 837 29 CAGGCATGCTGTATAGGAGTTGGTAGTCAAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147290 17147291 17147291 upstr_intron -28 -0.4821429 CAGGCATGCTGTATAGGAGTTGGTAGTCAAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 48 86 1 1 1 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1416344 0.05750846 0.9646941 0.9004286 NA 0.09957142 NA FALSE NA 0.009 0.027 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA CGA G,A 1.647e-05 17:17147291 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 intron_variant 0.374027 0.29639 0.01542 0.099367 0.7690581 0.11304 0.870658 FALSE 8.12189e-06 ENSE00001625403_008 ENSE00001625403 008 17 17050577 17050746 + 56 69 45 T C 17050622 839 46 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCCTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147307 17147308 17147308 upstr_intron -11 -0.1785714 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCCTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 14 127 1 0.8901808 0.9450904 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1416344 -0.05231074 0.9646941 0.9004286 NA 0.04466181 NA FALSE NA 0 -0.176 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA CTT T,C 8.236e-06 17:17147308 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 intron_variant -0.191953 0.2782 0.20968 0.099367 0.5782395 0.233759 0.870658 FALSE 4.06068e-06 ENSE00001625403_009 ENSE00001625403 009 17 17050577 17050746 + 56 69 45 C A 17050624 840 48 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTACCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147309 17147310 17147310 upstr_intron -9 -0.1428571 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTACCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 20 101 0.9922475 1 0.9961237 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1338819 0.05750846 0.9646941 0.9004286 NA 0.09569516 NA FALSE NA 0 0.719 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA TCC C,A 8.236e-06 17:17147310 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 intron_variant 0.12322 0.3013 0.44389 0.099367 0.4732087 0.166294 0.870658 FALSE 4.06081e-06 ENSE00001625403_011 ENSE00001625403 011 17 17050577 17050746 + 56 69 45 C G 17050644 842 68 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACAGTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147329 17147330 17147330 exon 12 0.173913 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACAGTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 209 1197 1 0.9948832 0.9974416 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1416344 0.05239168 0.9646941 0.9004286 NA 0.09701302 NA FALSE NA 1 3.225 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA ACT C,G 8.236e-06 17:17147330 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 missense_variant 6.277705 0.96447 0.94489 0.562547 0.9970193 0 0.870658 FALSE 4.06065e-06 ENSE00001625403_012 ENSE00001625403 012 17 17050577 17050746 + 56 69 45 C T 17050656 843 80 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTTGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147341 17147342 17147342 exon 24 0.3478261 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTTGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 65 59 0.9690424 0.9056807 0.9373616 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1106768 -0.03681084 0.9646941 0.9004286 NA 0.03693297 NA FALSE NA 1 2.039 rs147271679 upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 rs147271679 1 NA T:0.0002 T:0 TCG C,T 1.647e-05 17:17147342 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 synonymous_variant 2.217298 0.92833 0.6993 0.562547 0.7062355 0 0.870658 FALSE 2.84245e-05 ENSE00001625403_015 ENSE00001625403 015 17 17050577 17050746 + 56 69 45 G A 17050660 846 84 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCAATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147345 17147346 17147346 exon 28 0.4057971 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCAATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 393 303 0.9967079 1 0.9983539 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1383422 0.05750846 0.9646941 0.9004286 NA 0.09792535 NA FALSE NA 1 7.871 NA NA NA MPRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:17147346 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 missense_variant 7.207219 0.98017 0.96914 0.562547 0.9993255 0 0.870658 FALSE 2.03032e-05 ENSE00001625403_017 ENSE00001625403 017 17 17050577 17050746 + 56 69 45 C T 17050668 848 92 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGTCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147353 17147354 17147354 exon -34 0.5217391 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGTCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 26 13 1 1 1 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1416344 0.05750846 0.9646941 0.9004286 NA 0.09957142 NA FALSE NA 1 1.224 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA GCC C,T 8.236e-06 17:17147354 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 synonymous_variant 1.738951 0.93178 0.77054 0.562547 0.6582275 0 0.870658 FALSE 4.06058e-06 ENSE00001625403_018 ENSE00001625403 018 17 17050577 17050746 + 56 69 45 G A 17050673 849 97 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAAATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147358 17147359 17147359 exon -29 0.5942029 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAAATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 151 15 0.988262 1 0.994131 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1298964 0.05750846 0.9646941 0.9004286 NA 0.09370243 NA FALSE NA 1 7.755 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 rs200990767 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0005 AGA G,A 0.0007083 17:17147359 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 missense_variant 5.134519 0.97022 0.96582 0.562547 0.9950945 0 0.870658 FALSE 0.000726839 ENSE00001625403_021 ENSE00001625403 021 17 17050577 17050746 + 56 69 45 G A 17050704 852 128 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTAAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147389 17147390 17147390 downstr_intron 3 1.068182 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTAAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 248 18 1 1 1 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1416344 0.05750846 0.9646941 0.9004286 NA 0.09957142 NA FALSE NA 0.991 0.32 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA TGA G,A 1.647e-05 17:17147390 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 splice_region_variant 1.989473 0.94461 0.51815 0.099367 0.9280708 0.635297 0.870658 FALSE 1.21822e-05 ENSE00001625403_022 ENSE00001625403 022 17 17050577 17050746 + 56 69 45 G T 17050708 853 132 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTTTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147393 17147394 17147394 downstr_intron 7 1.159091 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTTTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 13 162 1 0.9990225 0.9995112 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1416344 0.05653096 0.9646941 0.9004286 NA 0.09908266 NA FALSE NA 0.71 0.344 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 rs372318149 1 NA T:0 T:0.0001 TGT G,T 8.236e-06 17:17147394 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 splice_region_variant 1.689017 0.81825 0.38591 0.099367 0.8731269 0.326644 0.870658 FALSE 4.06081e-06 ENSE00001625403_023 ENSE00001625403 023 17 17050577 17050746 + 56 69 45 T G 17050711 854 135 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCGGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147396 17147397 17147397 downstr_intron 10 1.227273 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCGGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 45 521 1 0.9832447 0.9916224 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1416344 0.04075318 0.9646941 0.9004286 NA 0.09119377 NA FALSE NA 0.042 -0.031 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA CTG T,G 8.236e-06 17:17147397 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 intron_variant 1.910222 0.32084 0.16521 0.099367 0.7162596 0.203617 0.870658 FALSE 4.06078e-06 ENSE00001625403_024 ENSE00001625403 024 17 17050577 17050746 + 56 69 45 C T 17050723 855 147 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTTTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 17147408 17147409 17147409 downstr_intron 22 1.5 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTTTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 259 174 0.999841 1 0.9999205 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1414754 0.05750846 0.9646941 0.9004286 NA 0.09949192 NA FALSE NA 0 -0.865 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA TCT C,T 8.236e-06 17:17147409 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 intron_variant 0.387958 0.21717 0.04475 0.099367 0.6805224 0.0532412 0.870658 FALSE 8.12183e-06 ENSE00001625403_026 ENSE00001625403 026 17 17050577 17050746 + 56 69 45 G A 17050733 857 157 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAAACAGCTGGAGGGG 17147262 17147432 17147418 17147419 17147419 downstr_intron 32 1.727273 CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAAACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG mutant NA NA NA NA NA 24 22 1 1 1 0.9884428 0.9409455 0.8583656 0.9424915 NA NA 0.1416344 0.05750846 0.9646941 0.9004286 NA 0.09957142 NA FALSE NA 0 0.539 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 rs200161526 1 A:0.0022 A:0.0083 A:0 NA A:0 A:0 A:0 A:0.0032 A:0 AGA G,A 0.0003212 17:17147419 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001625403 intron_variant 0.35219 0.24911 0.15919 0.099367 0.641672 0.0540496 0.870658 FALSE 0.000259928 ENSE00001625403_BRK ENSE00001625403 BRK 17 17050577 17050746 + 56 69 45 A,G; T,T NA NA NA CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTTTTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGCCGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG 17147262 17147432 NA NA NA NA NA NA CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTTTTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGCCGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG CAGGCATGCTGTATAGGAGTTGGTAGTCGAGTCATTTTTCTTTTCTTCCCCTTTAGTGGAAGAAACACTGGTTTGTCCTCGCCGATCAAAGCCTGAGATACTACAGGGATTCAGTGGCTGAGGAGGTGAGTGTCTGGGCTTTGCCTCTGCTGTGGAGACAGCTGGAGGGG control 203 63 0 0 0 NA NA NA NA NA 0.9884428 0.9409455 0.8583656 0.9424915 -0.9884428 -0.9409455 NA NA 0.9646941 0.9004286 -0.9646941 NA NA NA TRUE NA NA NA NA NA MPRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPRIP NA NA NA ENSG00000133030 ENSE00001625403 NA NA NA NA NA NA NA 0.870658 FALSE NA ENSE00001625471_000 ENSE00001625471 000 2 31564148 31564317 - 47 66 57 NA NA NA NA NA CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 NA NA NA NA NA NA CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC natural 715 1204 0.8940985 0.8490773 0.8715879 4962 3587 0.8951228 0.9516102 0.9233665 0.8940985 0.8490773 0.8951228 0.9516102 0 0 0 0 0.8715879 0.9233665 0 0 0 FALSE FALSE NA NA NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001625471 NA NA NA NA NA NA NA 1.557604e-13 FALSE NA ENSE00001625471_001 ENSE00001625471 001 2 31564148 31564317 - 47 66 57 G A 31564166 909 152 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGATAGACTTGGCCACCGATGC 31341281 31341451 31341299 31341300 31341300 downstr_intron 29 1.630435 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGATAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 1810 320 0.9559148 0.9641029 0.9600089 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.06079201 0.01249262 0.8715879 0.9233665 NA 0.03664231 NA FALSE NA 0 -0.409 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 33/35 1 NA TGT G 8.612e-06 2:31341300 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 intron_variant 0.078197 0.11343 0.00742 0.061011 0.3101745 0.0484247 1.557604e-13 FALSE NA ENSE00001625471_002 ENSE00001625471 002 2 31564148 31564317 - 47 66 57 C T 31564170 910 148 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGATGACAGACTTGGCCACCGATGC 31341281 31341451 31341303 31341304 31341304 downstr_intron 25 1.543478 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGATGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 120 34 0.9673757 0.95 0.9586879 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.07225286 -0.001610245 0.8715879 0.9233665 NA 0.03532131 NA FALSE NA 0 -0.168 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 33/35 rs528529273 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 ACC C 1.715e-05 2:31341304 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 intron_variant 0.276847 0.21091 0.04099 0.061011 0.3864158 0.0484247 1.557604e-13 FALSE 2.49113e-05 ENSE00001625471_004 ENSE00001625471 004 2 31564148 31564317 - 47 66 57 C G 31564189 912 129 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGCCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341322 31341323 31341323 downstr_intron 6 1.130435 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGCCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 3740 2980 0.9842801 0.925827 0.9550536 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.08915731 -0.02578328 0.8715879 0.9233665 NA 0.03168701 NA FALSE NA 0.077 0.073 . splice_region_variant&intron_variant LOW XDH HGNC 12805 ENST00000379416 33/35 rs369248960 1 NA G:0 G:0.0001 GCC C 2.526e-05 2:31341323 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 splice_region_variant -0.210849 0.23691 0.04874 0.061011 0.5277402 0.11622 1.557604e-13 FALSE 1.69997e-05 ENSE00001625471_005 ENSE00001625471 005 2 31564148 31564317 - 47 66 57 A G 31564204 913 114 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGACATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341337 31341338 31341338 exon -10 0.8636364 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGACATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 381 518 0.8532619 0.9690371 0.9111495 0.8940985 0.8490773 0.8951228 0.9516102 NA NA -0.04186093 0.01742686 0.8715879 0.9233665 NA -0.01221703 NA FALSE NA 0.972 0.247 . synonymous_variant LOW XDH HGNC 12805 ENST00000379416 33/36 rs542321750 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAT A 5.852e-05 2:31341338 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 synonymous_variant -0.301783 0.96557 0.64646 0.553676 0.4323358 0 1.557604e-13 FALSE 3.7519e-05 ENSE00001625471_006 ENSE00001625471 006 2 31564148 31564317 - 47 66 57 C A 31564223 914 95 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCATTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341356 31341357 31341357 exon -29 0.5757576 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCATTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 542 133 0.8012589 0.8 0.8006295 0.8940985 0.8490773 0.8951228 0.9516102 NA NA -0.09386391 -0.1516102 0.8715879 0.9233665 NA -0.1227371 NA FALSE NA 1 7.55 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 33/36 1 deleterious(0) probably_damaging(1) NA ACT C 8.33e-06 2:31341357 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 missense_variant 7.531229 0.9954 0.99239 0.553676 0.9971465 0 1.557604e-13 FALSE NA ENSE00001625471_007 ENSE00001625471 007 2 31564148 31564317 - 47 66 57 A T 31564238 915 80 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCAAGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341371 31341372 31341372 exon 23 0.3484848 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCAAGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 623 316 0.9481651 0.9495069 0.948836 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.05304224 -0.002103343 0.8715879 0.9233665 NA 0.02546945 NA FALSE NA 1 9.016 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 33/36 rs373259977 1 deleterious(0) probably_damaging(0.998) NA T:0 T:0.0001 CAT A 8.322e-06 2:31341372 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 missense_variant 6.690147 0.99377 0.99429 0.553676 0.9896362 0 1.557604e-13 FALSE NA ENSE00001625471_008 ENSE00001625471 008 2 31564148 31564317 - 47 66 57 A G 31564241 916 77 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGCCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341374 31341375 31341375 exon 20 0.3030303 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGCCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 762 323 0.9629339 0.9662862 0.9646101 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.06781106 0.01467599 0.8715879 0.9233665 NA 0.04124352 NA FALSE NA 1 9.016 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 33/36 1 deleterious(0) probably_damaging(1) NA GAC A 2.498e-05 2:31341375 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 missense_variant 6.811609 0.99375 0.99412 0.553676 0.9987528 0 1.557604e-13 FALSE 1.02793e-05 ENSE00001625471_009 ENSE00001625471 009 2 31564148 31564317 - 47 66 57 A G 31564244 917 74 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATACTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341377 31341378 31341378 exon 17 0.2575758 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATACTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 2327 421 0.9881612 0.9908244 0.9894928 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.09303834 0.03921416 0.8715879 0.9233665 NA 0.06612625 NA FALSE NA 1 9.016 rs139515054 missense_variant MODERATE XDH HGNC 12805 ENST00000379416 33/36 rs139515054 1 deleterious(0) probably_damaging(0.978) G:0.0004 G:0 G:0 NA G:0 G:0.002 G:0 G:0.0005 G:0.0029 AAT A 0.001642 2:31341378 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 missense_variant 6.595234 0.99372 0.99412 0.553676 0.9975469 0 1.557604e-13 FALSE 0.00204726 ENSE00001625471_010 ENSE00001625471 010 2 31564148 31564317 - 47 66 57 G A 31564250 918 68 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCATAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341383 31341384 31341384 exon 11 0.1666667 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCATAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 446 36 0.8 0.8 0.8 0.8940985 0.8490773 0.8951228 0.9516102 NA NA -0.09512284 -0.1516102 0.8715879 0.9233665 NA -0.1233665 NA FALSE NA 1 9.526 rs148972840 missense_variant MODERATE XDH HGNC 12805 ENST00000379416 33/36 rs148972840 1 deleterious(0.01) probably_damaging(0.994) NA A:0.0005 A:0 TGT G 1.669e-05 2:31341384 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 missense_variant 6.875721 0.99534 0.99406 0.553676 0.9988127 0 1.557604e-13 FALSE NA ENSE00001625471_011 ENSE00001625471 011 2 31564148 31564317 - 47 66 57 C T 31564253 919 65 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCACACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341386 31341387 31341387 exon 8 0.1212121 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCACACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 30 1010 0.8053579 0.720158 0.762758 0.8940985 0.8490773 0.8951228 0.9516102 NA NA -0.08976492 -0.2314522 0.8715879 0.9233665 NA -0.1606086 NA FALSE NA 1 2.857 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 33/36 rs529891514 1 deleterious(0.03) benign(0.178) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C 6.682e-05 2:31341387 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 missense_variant 5.936656 0.98851 0.96478 0.553676 0.9979534 0 1.557604e-13 FALSE 7.39137e-05 ENSE00001625471_012 ENSE00001625471 012 2 31564148 31564317 - 47 66 57 G A 31564254 920 64 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCTGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341387 31341388 31341388 exon 7 0.1060606 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCTGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 576 432 0.8005594 0.8003342 0.8004468 0.8940985 0.8490773 0.8951228 0.9516102 NA NA -0.09456348 -0.151276 0.8715879 0.9233665 NA -0.1229197 NA FALSE NA 1 3.981 rs45624433 missense_variant MODERATE XDH HGNC 12805 ENST00000379416 33/36 rs45624433 1 deleterious(0) benign(0.248) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGG G 2.508e-05 2:31341388 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 missense_variant 6.349981 0.99132 0.97036 0.553676 0.9991768 0 1.557604e-13 FALSE NA ENSE00001625471_013 ENSE00001625471 013 2 31564148 31564317 - 47 66 57 A C 31564256 921 62 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCGCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341389 31341390 31341390 exon 5 0.07575758 CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCGCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 130 349 0.998085 1 0.9990425 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.1029621 0.04838976 0.8715879 0.9233665 NA 0.07567595 NA FALSE NA 1 8.982 . missense_variant MODERATE XDH HGNC 12805 ENST00000379416 33/36 1 tolerated(0.05) possibly_damaging(0.464) NA GAG A 8.365e-06 2:31341390 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 missense_variant 6.351976 0.99383 0.9976 0.553676 0.9975902 0 1.557604e-13 FALSE 5.35688e-06 ENSE00001625471_015 ENSE00001625471 015 2 31564148 31564317 - 47 66 57 A G 31564300 923 18 CATATTCCAAACATCTTCTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341433 31341434 31341434 upstr_intron -40 -0.6842105 CATATTCCAAACATCTTCTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 49 135 0.9607341 0.8696847 0.9152094 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.06561123 -0.08192559 0.8715879 0.9233665 NA -0.008157179 NA FALSE NA 0 -0.134 . intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 32/35 1 NA AAA A 1.789e-05 2:31341434 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 intron_variant 0.28038 0.23544 0.07008 0.074636 0.4052576 0.0570046 1.557604e-13 FALSE 6.45403e-06 ENSE00001625471_016 ENSE00001625471 016 2 31564148 31564317 - 47 66 57 T C 31564305 924 13 CATATTCCAAACGTCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 31341438 31341439 31341439 upstr_intron -45 -0.7719298 CATATTCCAAACGTCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC mutant NA NA NA NA NA 97 23 0.9947949 0.95 0.9723975 0.8940985 0.8490773 0.8951228 0.9516102 NA NA 0.09967211 -0.001610245 0.8715879 0.9233665 NA 0.04903093 NA FALSE NA 0 -0.231 rs35059671 intron_variant MODIFIER XDH HGNC 12805 ENST00000379416 32/35 rs35059671 1 C:0.0228 C:0.0855 C:0.0014 NA C:0 C:0 C:0 C:0.0716 C:0.0005 ATG T 0.004762 2:31341439 XDH HGNC Symbol protein_coding 80394 ENSG00000158125 ENSE00001625471 intron_variant 0.193527 0.24417 0.06363 0.074636 0.5756921 0.056376 1.557604e-13 FALSE 0.00546694 ENSE00001625471_BRK ENSE00001625471 BRK 2 31564148 31564317 - 47 66 57 A,G; T,T NA NA NA CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTTTAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGCCGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC 31341281 31341451 NA NA NA NA NA NA CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTTTAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGCCGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC CATATTCCAAACATCTTTTCCTCCTCTAACTTCTTGTAATTTTGCTGTCTACTCTAGAACCTCCGCACAGATATTGTCATGGATGTTGGCTCCAGTCTAAACCCTGCCATTGATATTGGACAGGTGAGGCTCAGTGGGACCAGGGTGGTGACAGACTTGGCCACCGATGC control 233 128 0 0 0 NA NA NA NA NA 0.8940985 0.8490773 0.8951228 0.9516102 -0.8940985 -0.8490773 NA NA 0.8715879 0.9233665 -0.8715879 NA NA NA TRUE NA NA NA NA NA XDH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XDH NA NA NA ENSG00000158125 ENSE00001625471 NA NA NA NA NA NA NA 1.557604e-13 FALSE NA ENSE00001625627_000 ENSE00001625627 000 9 117005724 117005893 + 63 54 53 NA NA NA NA NA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 NA NA NA NA NA NA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA natural 121 147 0.85 0.8689761 0.859488 68 460 0.8666106 0.8585325 0.8625716 0.85 0.8689761 0.8666106 0.8585325 0 0 0 0 0.859488 0.8625716 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003530254 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001625627_004 ENSE00001625627 004 9 117005724 117005893 + 63 54 53 A C 117005764 1837 41 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCCCTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 114243483 114243484 114243484 upstr_intron -23 -0.3492063 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCCCTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA mutant NA NA NA NA NA 737 10 0.8 0.8 0.8 0.85 0.8689761 0.8666106 0.8585325 NA NA -0.0666106 -0.05853254 0.859488 0.8625716 NA -0.06257157 NA FALSE NA 0.002 0.987 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 19/57 1 NA CAC A,C 8.237e-06 9:114243484 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003530254 intron_variant 1.218006 0.21996 0.11242 0.062308 0.7733472 0.0705947 0.9999994 TRUE 4.0787e-06 ENSE00001625627_007 ENSE00001625627 007 9 117005724 117005893 + 63 54 53 T C 117005777 1840 54 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCCCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 114243496 114243497 114243497 upstr_intron -10 -0.1428571 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCCCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA mutant NA NA NA NA NA 339 713 0.01085232 0 0.00542616 0.85 0.8689761 0.8666106 0.8585325 NA NA -0.8557583 -0.8585325 0.859488 0.8625716 NA -0.8571454 NA TRUE NA 0.93 3.482 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 19/57 1 NA CTC T,C 8.237e-06 9:114243497 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003530254 intron_variant 2.517943 0.89976 0.7598 0.062308 0.7968198 0.44346 0.9999994 TRUE 4.07329e-06 ENSE00001625627_010 ENSE00001625627 010 9 117005724 117005893 + 63 54 53 A G 117005803 1843 80 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAGGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 114243522 114243523 114243523 exon 17 0.3148148 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAGGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA mutant NA NA NA NA NA 15 639 0.9023578 0.95 0.9261789 0.85 0.8689761 0.8666106 0.8585325 NA NA 0.0357472 0.09146746 0.859488 0.8625716 NA 0.06360733 NA FALSE NA 1 6.017 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 20/58 1 NA AAG A,G 1.647e-05 9:114243523 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003530254 missense_variant 4.742001 0.94076 0.9299 0.615465 0.9975322 0 0.9999994 TRUE 8.14525e-06 ENSE00001625627_012 ENSE00001625627 012 9 117005724 117005893 + 63 54 53 C T 117005820 1845 97 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGTCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 114243539 114243540 114243540 exon -21 0.6296296 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGTCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA mutant NA NA NA NA NA 256 78 0.8158347 0.9575315 0.8866831 0.85 0.8689761 0.8666106 0.8585325 NA NA -0.05077591 0.09899898 0.859488 0.8625716 NA 0.02411153 NA FALSE NA 1 3.33 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 20/58 rs532856260 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCC C,T 1.647e-05 9:114243540 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003530254 missense_variant 3.019871 0.9451 0.87713 0.615465 0.991314 0 0.9999994 TRUE 2.03814e-05 ENSE00001625627_014 ENSE00001625627 014 9 117005724 117005893 + 63 54 53 G A 117005823 1847 100 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCAGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 114243542 114243543 114243543 exon -18 0.6851852 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCAGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA mutant NA NA NA NA NA 26 204 0.9675322 0.9406577 0.9540949 0.85 0.8689761 0.8666106 0.8585325 NA NA 0.1009216 0.08212514 0.859488 0.8625716 NA 0.09152337 NA FALSE NA 1 6.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114243543 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003530254 missense_variant 4.723874 0.94527 0.94793 0.615465 0.9933001 0 0.9999994 TRUE 2.44684e-05 ENSE00001625627_015 ENSE00001625627 015 9 117005724 117005893 + 63 54 53 G T 117005823 1848 100 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCTGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 114243542 114243543 114243543 exon -18 0.6851852 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCTGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA mutant NA NA NA NA NA 17 127 0.8 0.8011372 0.8005686 0.85 0.8689761 0.8666106 0.8585325 NA NA -0.0666106 -0.05739535 0.859488 0.8625716 NA -0.06200297 NA FALSE NA 1 6.34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003530254 missense_variant 5.794848 0.94652 0.95241 0.615465 0.9908402 0 0.9999994 TRUE 4.07807e-06 ENSE00001625627_019 ENSE00001625627 019 9 117005724 117005893 + 63 54 53 C G 117005834 1852 111 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGGGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 114243553 114243554 114243554 exon -7 0.8888889 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGGGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA mutant NA NA NA NA NA 260 382 0 0 0 0.85 0.8689761 0.8666106 0.8585325 NA NA -0.8666106 -0.8585325 0.859488 0.8625716 NA -0.8625716 NA TRUE NA 0.339 0.217 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114243554 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003530254 synonymous_variant 1.161408 0.86932 0.31634 0.615465 0.5223073 0 0.9999994 TRUE 8.17294e-06 ENSE00001625627_024 ENSE00001625627 024 9 117005724 117005893 + 63 54 53 G C 117005854 1857 131 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGCAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA 114243443 114243613 114243573 114243574 114243574 downstr_intron 14 1.269231 CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGCAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA CCCTGGACCCCAGCCATGTTGCCCCTGTCCAGCTTCTCCCACTTACCTGTCTCTCTGTTGCAGGGTCAGCCTGGCAGGAAGGGGTTTCCTGGGAGGCCCGGCCTGGATGGCGTGAAGGTGAGGGGACCTGGAGATCCCTGGGGACAAGAGGAAAGAGGGGATCCTACATA mutant NA NA NA NA NA 374 10 0.9341196 0.9190731 0.9265964 0.85 0.8689761 0.8666106 0.8585325 NA NA 0.06750905 0.06054055 0.859488 0.8625716 NA 0.0640248 NA FALSE NA 0.002 0.931 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 20/57 rs549785266 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 GGA G,C 0.0001153 9:114243574 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003530254 intron_variant -0.166376 0.27862 0.15542 0.099367 0.4245741 0.089307 0.9999994 TRUE 0.00013565 ENSE00001626662_000 ENSE00001626662 000 12 48388985 48389154 - 53 54 63 NA NA NA NA NA TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 NA NA NA NA NA NA TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG natural 49 29 0.9946109 0.99584 0.9952255 2476 2991 0.9559866 0.9900065 0.9729966 0.9946109 0.99584 0.9559866 0.9900065 0 0 0 0 0.9952255 0.9729966 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001626662 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001626662_006 ENSE00001626662 006 12 48388985 48389154 - 53 54 63 T C 48389016 1342 139 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAGATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995232 47995233 47995233 downstr_intron 22 1.423077 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAGATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 846 498 1 0.8560692 0.9280346 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 -0.1339372 0.9952255 0.9729966 NA -0.04496193 NA FALSE NA 0 -3.289 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA TTT T,C 8.236e-06 12:47995233 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant -0.011346 0.26626 0.02984 0.06567 0.3257195 0.0726835 1 TRUE 3.24907e-05 ENSE00001626662_007 ENSE00001626662 007 12 48388985 48389154 - 53 54 63 T G 48389017 1343 138 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACCAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995233 47995234 47995234 downstr_intron 21 1.403846 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACCAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 86 120 1 0.95 0.975 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 -0.04000648 0.9952255 0.9729966 NA 0.002003447 NA FALSE NA 0 -1.234 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA TTG T,G 8.236e-06 12:47995234 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant 0.140224 0.22851 0.03396 0.06567 0.4430045 0.0726835 1 TRUE 8.12275e-06 ENSE00001626662_009 ENSE00001626662 009 12 48388985 48389154 - 53 54 63 C T 48389020 1345 135 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAAACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995236 47995237 47995237 downstr_intron 18 1.346154 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAAACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 883 3368 0.99826 0.9953595 0.9968097 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04227335 0.005352977 0.9952255 0.9729966 NA 0.02381316 NA FALSE NA 0 0.129 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA TCT C,T 8.236e-06 12:47995237 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant 0.079946 0.23779 0.0286 0.06567 0.2381717 0.0726835 1 TRUE 1.21838e-05 ENSE00001626662_010 ENSE00001626662 010 12 48388985 48389154 - 53 54 63 C T 48389023 1346 132 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAATAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995239 47995240 47995240 downstr_intron 15 1.288462 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAATAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 236 467 0.9913747 1 0.9956873 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.03538807 0.009993519 0.9952255 0.9729966 NA 0.0226908 NA FALSE NA 0 0.254 rs10875716 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs10875716 1 T:0.1607 T:0.0219 T:0.2089 NA T:0.0109 T:0.3658 T:0.2577 T:0.0735 T:0.3671 ACT C,T 0.293 12:47995240 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant 0.082881 0.21494 0.01757 0.06567 0.3088019 0.0726835 1 TRUE 0.292812 ENSE00001626662_011 ENSE00001626662 011 12 48388985 48389154 - 53 54 63 C T 48389025 1347 130 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACAAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995241 47995242 47995242 downstr_intron 13 1.25 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACAAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 273 219 0.9966357 0.99216 0.9943978 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04064902 0.002153506 0.9952255 0.9729966 NA 0.02140127 NA FALSE NA 0 -0.719 rs147698746 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs147698746 1 T:0.0016 T:0.0061 T:0 NA T:0 T:0 T:0 T:0.0009 T:0 TCG C,T 0.0001894 12:47995242 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant 0.016545 0.21185 0.01698 0.06567 0.3701937 0.0726835 1 TRUE 0.000146204 ENSE00001626662_014 ENSE00001626662 014 12 48388985 48389154 - 53 54 63 T A 48389051 1350 104 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAATGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995267 47995268 47995268 exon -14 0.7592593 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAATGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 319 144 1 1 1 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 0.009993519 0.9952255 0.9729966 NA 0.02700345 NA FALSE NA 1 7.737 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA CTT T,A 8.236e-06 12:47995268 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 missense_variant 4.921533 0.99427 0.99017 0.648238 0.98798 0 1 TRUE 4.06091e-06 ENSE00001626662_015 ENSE00001626662 015 12 48388985 48389154 - 53 54 63 G C 48389057 1351 98 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCGTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995273 47995274 47995274 exon -20 0.6481481 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCGTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 443 18 0.9975697 1 0.9987848 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04158304 0.009993519 0.9952255 0.9729966 NA 0.02578828 NA FALSE NA 1 9.489 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA AGG G,C 8.236e-06 12:47995274 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 missense_variant 4.206811 0.99198 0.99032 0.648238 0.9934086 0 1 TRUE 4.06098e-06 ENSE00001626662_016 ENSE00001626662 016 12 48388985 48389154 - 53 54 63 G A 48389061 1352 94 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTTCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995277 47995278 47995278 exon -24 0.5740741 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTTCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 191 166 1 1 1 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 0.009993519 0.9952255 0.9729966 NA 0.02700345 NA FALSE NA 1 6.43 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs377490073&COSM137579 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 12:47995278 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 missense_variant 2.873989 0.98933 0.96712 0.648238 0.9965133 0 1 TRUE 4.06105e-06 ENSE00001626662_017 ENSE00001626662 017 12 48388985 48389154 - 53 54 63 G A 48389086 1353 69 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCTATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995302 47995303 47995303 exon 6 0.1111111 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCTATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 95 117 0.9246999 0.9818552 0.9532775 0.9946109 0.99584 0.9559866 0.9900065 NA NA -0.03128668 -0.008151329 0.9952255 0.9729966 NA -0.01971901 NA FALSE NA 0.227 -0.069 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA TGG G,A 1.647e-05 12:47995303 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 synonymous_variant 0.917265 0.97726 0.72181 0.648238 0.6203575 0 1 TRUE 8.12203e-06 ENSE00001626662_018 ENSE00001626662 018 12 48388985 48389154 - 53 54 63 G C 48389088 1354 67 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTGCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995304 47995305 47995305 exon 4 0.07407407 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTGCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 766 116 0.9973345 1 0.9986672 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04134784 0.009993519 0.9952255 0.9729966 NA 0.02567068 NA FALSE NA 1 3.029 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA GGA G,C 8.236e-06 12:47995305 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 missense_variant 2.245783 0.9893 0.94741 0.648238 0.9767647 0 1 TRUE 2.03051e-05 ENSE00001626662_019 ENSE00001626662 019 12 48388985 48389154 - 53 54 63 A G 48389089 1355 66 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGCCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995305 47995306 47995306 exon 3 0.05555556 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGCCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 78 144 1 1 1 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 0.009993519 0.9952255 0.9729966 NA 0.02700345 NA FALSE NA 0.946 0.938 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47995306 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 splice_region_variant 1.96177 0.9826 0.84248 0.648238 0.8730345 0 1 TRUE 4.06098e-06 ENSE00001626662_022 ENSE00001626662 022 12 48388985 48389154 - 53 54 63 A G 48389100 1358 55 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTCGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995316 47995317 47995317 upstr_intron -9 -0.1269841 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTCGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 1255 87 1 0.9830622 0.9915311 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 -0.00694428 0.9952255 0.9729966 NA 0.01853455 NA FALSE NA 0 0.757 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs374291498 1 NA G:0.0005 G:0 CAA A,G 1.647e-05 12:47995317 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant 1.496129 0.30727 0.09647 0.06567 0.7952339 0.315478 1 TRUE 8.12242e-06 ENSE00001626662_023 ENSE00001626662 023 12 48388985 48389154 - 53 54 63 G A 48389104 1359 51 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTTCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995320 47995321 47995321 upstr_intron -13 -0.1904762 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTTCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 167 47 0.9878502 1 0.9939251 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.03186357 0.009993519 0.9952255 0.9729966 NA 0.02092854 NA FALSE NA 0 -3.16 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs367792761 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 12:47995321 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant 0.949564 0.195 0.01224 0.06567 0.6005751 0.282685 1 TRUE 4.06124e-06 ENSE00001626662_026 ENSE00001626662 026 12 48388985 48389154 - 53 54 63 A C 48389115 1362 40 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTGAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995331 47995332 47995332 upstr_intron -24 -0.3650794 TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTGAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 84 943 1 0.998821 0.9994105 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 0.008814506 0.9952255 0.9729966 NA 0.02641394 NA FALSE NA 0 0.904 rs142381765 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs142381765 1 C:0.0018 C:0.0068 C:0 NA C:0 C:0 C:0 C:0.002 C:0 TAA A,C 0.0002718 12:47995332 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant 0.602614 0.33041 0.09533 0.06567 0.7960567 0.0967866 1 TRUE 0.000182772 ENSE00001626662_027 ENSE00001626662 027 12 48388985 48389154 - 53 54 63 A G 48389126 1363 29 TGTCCATTGCTTAGGTGTCTTCCCACTACAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995342 47995343 47995343 upstr_intron -35 -0.5396825 TGTCCATTGCTTAGGTGTCTTCCCACTACAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 12 406 1 1 1 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 0.009993519 0.9952255 0.9729966 NA 0.02700345 NA FALSE NA 0 0.107 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA TAT A,G 1.647e-05 12:47995343 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant -0.094061 0.18842 0.00094 0.06567 0.3865149 0.0967866 1 TRUE 1.21871e-05 ENSE00001626662_028 ENSE00001626662 028 12 48388985 48389154 - 53 54 63 T C 48389127 1364 28 TGTCCATTGCTTAGGTGTCTTCCCACTGTAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 47995343 47995344 47995344 upstr_intron -36 -0.5555556 TGTCCATTGCTTAGGTGTCTTCCCACTGTAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG mutant NA NA NA NA NA 174 518 1 0.9960858 0.9980429 0.9946109 0.99584 0.9559866 0.9900065 NA NA 0.04401337 0.006079302 0.9952255 0.9729966 NA 0.02504634 NA FALSE NA 0 0.317 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs371800369 1 NA C:0 C:0.0001 ATA G,C 1.647e-05 12:47995344 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001626662 intron_variant 0.03005 0.30349 0.0333 0.06567 0.7673853 0.0967866 1 TRUE 1.21879e-05 ENSE00001626662_BRK ENSE00001626662 BRK 12 48388985 48389154 - 53 54 63 A,G; T,T NA NA NA TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTTTGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATCCGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG 47995201 47995371 NA NA NA NA NA NA TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTTTGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATCCGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG TGTCCATTGCTTAGGTGTCTTCCCACTATAACCATCTCTTAAACTATCTTCCTTTGTTTGTAGGGTCCCATGGGTCCCCGTGGTCCTCCTGGTCCCCCTGGAAAGCCTGGTGATGATGTGAGTATACACGAGTAGACAAATGAGGAGCTGCCTCCTTTGAAAGGGCCTGG control 29 33 0 0 0 872 535 0.009631092 0 0.004815546 0.9946109 0.99584 0.9559866 0.9900065 -0.9946109 -0.99584 -0.9463555 -0.9900065 0.9952255 0.9729966 -0.9952255 -0.968181 0.02704445 TRUE TRUE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001626662 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001627308_000 ENSE00001627308 000 17 36886941 36887110 + 72 36 62 NA NA NA NA NA TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG 38730687 38730857 NA NA NA NA NA NA TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG natural 14 31 0.9751949 0.9641061 0.9696505 97 84 0.875843 0.7846837 0.8302634 0.9751949 0.9641061 0.875843 0.7846837 0 0 0 0 0.9696505 0.8302634 0 0 0 FALSE FALSE NA NA NA NA NA PCGF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CISD3 NA NA NA ENSG00000277972 ENSE00003740030 NA NA NA NA NA NA NA NA NA NA ENSE00001627308_003 ENSE00001627308 003 17 36886941 36887110 + 72 36 62 C G 36887055 1624 115 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTGCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG 38730687 38730857 38730801 38730802 38730802 downstr_intron 7 1.114754 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTGCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG mutant NA NA NA NA NA 234 38 0.999824 1 0.999912 0.9751949 0.9641061 0.875843 0.7846837 NA NA 0.123981 0.2153163 0.9696505 0.8302634 NA 0.1696486 NA FALSE NA 0 -0.22 rs186544010 downstream_gene_variant MODIFIER PCGF2 HGNC 12929 ENST00000578109 rs186544010 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TCC C,G 3.215e-05 17:38730802 CISD3 HGNC Symbol protein_coding 4809 ENSG00000277972 ENSE00003740030 splice_region_variant 0.146062 0.17933 0.03207 0 0.7233559 0.115963 NA NA 6.72613e-05 ENSE00001627308_004 ENSE00001627308 004 17 36886941 36887110 + 72 36 62 C T 36887058 1625 118 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCTCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG 38730687 38730857 38730804 38730805 38730805 downstr_intron 10 1.163934 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCTCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG mutant NA NA NA NA NA 298 199 0.9884885 0.9849282 0.9867083 0.9751949 0.9641061 0.875843 0.7846837 NA NA 0.1126455 0.2002445 0.9696505 0.8302634 NA 0.156445 NA FALSE NA 0 0.444 . downstream_gene_variant MODIFIER PCGF2 HGNC 12929 ENST00000578109 rs564337173 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCC C,T 0.0001291 17:38730805 CISD3 HGNC Symbol protein_coding 4809 ENSG00000277972 ENSE00003740030 intron_variant 0.97943 0.19745 0.07308 0 0.8687354 0.0711933 NA NA 9.41214e-05 ENSE00001627308_005 ENSE00001627308 005 17 36886941 36887110 + 72 36 62 C T 36887068 1626 128 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCTCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG 38730687 38730857 38730814 38730815 38730815 downstr_intron 20 1.327869 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCTCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG mutant NA NA NA NA NA 85 12 1 1 1 0.9751949 0.9641061 0.875843 0.7846837 NA NA 0.124157 0.2153163 0.9696505 0.8302634 NA 0.1697366 NA FALSE NA 0 -0.501 rs149418830 downstream_gene_variant MODIFIER PCGF2 HGNC 12929 ENST00000578109 rs149418830 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCC C,T 6.462e-05 17:38730815 CISD3 HGNC Symbol protein_coding 4809 ENSG00000277972 ENSE00003740030 intron_variant 0.948348 0.19253 0.03949 0 0.8884177 0.133664 NA NA 4.03578e-05 ENSE00001627308_006 ENSE00001627308 006 17 36886941 36887110 + 72 36 62 C G 36887074 1627 134 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTGCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG 38730687 38730857 38730820 38730821 38730821 downstr_intron 26 1.42623 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTGCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG mutant NA NA NA NA NA 15 65 1 0.9926295 0.9963148 0.9751949 0.9641061 0.875843 0.7846837 NA NA 0.124157 0.2079458 0.9696505 0.8302634 NA 0.1660514 NA FALSE NA 0 -1.087 . downstream_gene_variant MODIFIER PCGF2 HGNC 12929 ENST00000578109 1 NA TCC C,G 3.211e-05 17:38730821 CISD3 HGNC Symbol protein_coding 4809 ENSG00000277972 ENSE00003740030 intron_variant 0.59905 0.20563 0.11768 0 0.753626 0.120419 NA NA 6.72658e-06 ENSE00001627308_007 ENSE00001627308 007 17 36886941 36887110 + 72 36 62 C G 36887090 1628 150 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCGAGGCACGGAGATCTCAAAGG 38730687 38730857 38730836 38730837 38730837 downstr_intron 42 1.688525 TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCGAGGCACGGAGATCTCAAAGG TTTCCACTGATTTTATTTTTCCGTTTCCAAACCACCGTCTTGTGATGCCTGCCATGCTTGCGTACCTTGCAGGACCTGAACCCGCGGCGGGACATCTCCTCCTGGCTGGTGAGTCCCCCCATCCTCCCCTCCTCCTCGCACAAGACCCCCAGGCACGGAGATCTCAAAGG mutant NA NA NA NA NA 1434 1224 0.9972694 0.9990617 0.9981656 0.9751949 0.9641061 0.875843 0.7846837 NA NA 0.1214264 0.214378 0.9696505 0.8302634 NA 0.1679022 NA FALSE NA 0 -0.152 rs117131107 downstream_gene_variant MODIFIER PCGF2 HGNC 12929 ENST00000578109 rs117131107 1 G:0.0044 G:0 G:0 NA G:0.0208 G:0 G:0.001 CCA C,G 0.0003487 17:38730837 CISD3 HGNC Symbol protein_coding 4809 ENSG00000277972 ENSE00003740030 intron_variant 0.301465 0.20077 0.06919 0 0.7297484 0.0969929 NA NA 0.00114571 ENSE00001628285_000 ENSE00001628285 000 4 114161600 114161769 + 41 99 30 NA NA NA NA NA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 NA NA NA NA NA NA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA natural 403 418 0.85 0.85 0.85 3307 1786 0.7780842 0.8436495 0.8108668 0.85 0.85 0.7780842 0.8436495 0 0 0 0 0.85 0.8108668 0 0 0 FALSE FALSE NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002429935 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001628285_002 ENSE00001628285 002 4 114161600 114161769 + 41 99 30 T C 114161619 1346 20 AGTGAAGCGCTATACTGACCGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240462 113240463 113240463 upstr_intron -22 -0.5121951 AGTGAAGCGCTATACTGACCGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 279 538 0.8704047 0.8029543 0.8366795 0.85 0.85 0.7780842 0.8436495 NA NA 0.09232056 -0.04069522 0.85 0.8108668 NA 0.02581267 NA FALSE NA 0 0.094 rs45616931 intron_variant MODIFIER ANK2 HGNC 493 ENST00000503271 8/30 rs45616931 1 C:0.0028 C:0.0015 C:0 NA C:0 C:0.0089 C:0.0031 C:0.0023 C:0.0116 CTG T,C 0.007207 4:113240463 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 intron_variant 0.242196 0.16673 0.02286 0.074636 0.4853797 0.0469094 1 TRUE 0.00705376 ENSE00001628285_004 ENSE00001628285 004 4 114161600 114161769 + 41 99 30 T C 114161621 1348 22 AGTGAAGCGCTATACTGACTGCCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240464 113240465 113240465 upstr_intron -20 -0.4634146 AGTGAAGCGCTATACTGACTGCCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 653 500 0.507473 0.6446497 0.5760614 0.85 0.85 0.7780842 0.8436495 NA NA -0.2706111 -0.1989998 0.85 0.8108668 NA -0.2348055 NA FALSE NA 0 0.226 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000503271 8/30 1 NA GTC T,C 1.647e-05 4:113240465 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 intron_variant 0.073882 0.20608 0.02543 0.074636 0.5253186 0.0806108 1 TRUE 1.21889e-05 ENSE00001628285_005 ENSE00001628285 005 4 114161600 114161769 + 41 99 30 C T 114161627 1349 28 AGTGAAGCGCTATACTGACTGTCATATTTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240470 113240471 113240471 upstr_intron -14 -0.3170732 AGTGAAGCGCTATACTGACTGTCATATTTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 1246 108 0.9328823 0.9433609 0.9381216 0.85 0.85 0.7780842 0.8436495 NA NA 0.1547982 0.0997114 0.85 0.8108668 NA 0.1272548 NA FALSE NA 0.043 -0.184 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000503271 8/30 1 NA TCT C,T 8.236e-06 4:113240471 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 intron_variant 0.350911 0.22769 0.01509 0.053691 0.5651945 0.122059 1 TRUE 4.06293e-06 ENSE00001628285_006 ENSE00001628285 006 4 114161600 114161769 + 41 99 30 A G 114161650 1350 51 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTGCCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240493 113240494 113240494 exon 10 0.1010101 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTGCCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 32 234 0.8831293 0.8373797 0.8602545 0.85 0.85 0.7780842 0.8436495 NA NA 0.1050452 -0.006269806 0.85 0.8108668 NA 0.04938767 NA FALSE NA 1 9.291 . missense_variant MODERATE ANK2 HGNC 493 ENST00000503271 9/31 1 deleterious_low_confidence(0) probably_damaging(0.996) NA TAC A,G 8.236e-06 4:113240494 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 missense_variant 6.175181 0.99434 0.98826 0.706298 0.99876 0 1 TRUE 4.062e-06 ENSE00001628285_007 ENSE00001628285 007 4 114161600 114161769 + 41 99 30 C T 114161676 1351 77 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTATGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240519 113240520 113240520 exon 36 0.3636364 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTATGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 118 241 0.8 0.8 0.8 0.85 0.85 0.7780842 0.8436495 NA NA 0.02191584 -0.0436495 0.85 0.8108668 NA -0.01086683 NA FALSE NA 0.056 -0.882 . synonymous_variant LOW ANK2 HGNC 493 ENST00000503271 9/31 1 NA ACG C,T 8.236e-06 4:113240520 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 synonymous_variant 1.470268 0.72934 0.02338 0.706298 0.6012983 0 1 TRUE 8.12341e-06 ENSE00001628285_009 ENSE00001628285 009 4 114161600 114161769 + 41 99 30 C T 114161688 1353 89 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAATGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240531 113240532 113240532 exon 48 0.4848485 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAATGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 306 1589 0.0410173 0.002339558 0.02167843 0.85 0.85 0.7780842 0.8436495 NA NA -0.7370669 -0.8413099 0.85 0.8108668 NA -0.7891884 NA TRUE NA 0 -1.641 rs190102899 synonymous_variant LOW ANK2 HGNC 493 ENST00000503271 9/31 rs190102899 1 T:0.0004 T:0.0008 T:0.0014 NA T:0 T:0 T:0 T:0.0002 T:0 ACG C,T 9.06e-05 4:113240532 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 synonymous_variant 2.107328 0.96467 0.07904 0.706298 0.6541339 0 1 TRUE 9.74778e-05 ENSE00001628285_010 ENSE00001628285 010 4 114161600 114161769 + 41 99 30 G A 114161689 1354 90 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACATGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240532 113240533 113240533 exon 49 0.4949495 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACATGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 684 617 0.0004386941 0.0155002 0.007969446 0.85 0.85 0.7780842 0.8436495 NA NA -0.7776455 -0.8281493 0.85 0.8108668 NA -0.8028974 NA TRUE NA 1 9.818 . missense_variant MODERATE ANK2 HGNC 493 ENST00000503271 9/31 1 deleterious_low_confidence(0.03) probably_damaging(0.982) NA CGT G,A 1.647e-05 4:113240533 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 missense_variant 7.037791 0.99592 0.99049 0.706298 0.9988397 0 1 TRUE 1.21852e-05 ENSE00001628285_012 ENSE00001628285 012 4 114161600 114161769 + 41 99 30 G A 114161711 1356 112 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCAGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240554 113240555 113240555 exon -29 0.7171717 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCAGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 29 15 0.8 0.8 0.8 0.85 0.85 0.7780842 0.8436495 NA NA 0.02191584 -0.0436495 0.85 0.8108668 NA -0.01086683 NA FALSE NA 1 7.813 . missense_variant MODERATE ANK2 HGNC 493 ENST00000503271 9/31 COSM1131297 1 deleterious_low_confidence(0) probably_damaging(0.996) NA CGG G,A 8.236e-06 4:113240555 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 missense_variant 7.60232 0.99259 0.98022 0.706298 0.9996139 0 1 TRUE 4.06204e-06 ENSE00001628285_013 ENSE00001628285 013 4 114161600 114161769 + 41 99 30 T C 114161743 1357 144 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTACGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 113240586 113240587 113240587 downstr_intron 4 1.137931 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTACGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 5191 990 0.7995889 0.7010673 0.7503281 0.85 0.85 0.7780842 0.8436495 NA NA 0.02150472 -0.1425821 0.85 0.8108668 NA -0.06053871 NA FALSE NA 0 -1.332 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000503271 9/30 rs374253227 1 NA C:0 C:0.0002 ATG T,C 8.236e-06 4:113240587 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 splice_region_variant 1.200067 0.50053 0.0266 0.053691 0.7228382 0.405581 1 TRUE 1.21914e-05 ENSE00001628285_015 ENSE00001628285 015 4 114161600 114161769 + 41 99 30 A G 114161754 1359 155 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATGGTTTCTCATTCTAGA 113240443 113240613 113240597 113240598 113240598 downstr_intron 15 1.517241 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATGGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 495 145 0.8045478 0.8573483 0.8309481 0.85 0.85 0.7780842 0.8436495 NA NA 0.02646365 0.01369884 0.85 0.8108668 NA 0.02008125 NA FALSE NA 0 -2.738 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000503271 9/30 rs375914552 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 G:0 G:0.0003 TAG A,G 0.0003212 4:113240598 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 intron_variant 0.336342 0.19052 0.01687 0.053691 0.5954707 0.0648037 1 TRUE 0.000317145 ENSE00001628285_016 ENSE00001628285 016 4 114161600 114161769 + 41 99 30 C A 114161759 1360 160 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTATCATTCTAGA 113240443 113240613 113240602 113240603 113240603 downstr_intron 20 1.689655 AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTATCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA mutant NA NA NA NA NA 306 4367 0.8633684 0.7984006 0.8308845 0.85 0.85 0.7780842 0.8436495 NA NA 0.08528425 -0.04524889 0.85 0.8108668 NA 0.02001768 NA FALSE NA 0.001 1.31 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000503271 9/30 1 NA TCT C,A 2.471e-05 4:113240603 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002429935 intron_variant 1.059297 0.84998 0.27693 0.053691 0.7149648 0.0648037 1 TRUE 2.44059e-05 ENSE00001628285_BRK ENSE00001628285 BRK 4 114161600 114161769 + 41 99 30 A,G; T,T NA NA NA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATTTAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGCCATGGATTGAAATAGTTTCTCATTCTAGA 113240443 113240613 NA NA NA NA NA NA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATTTAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGCCATGGATTGAAATAGTTTCTCATTCTAGA AGTGAAGCGCTATACTGACTGTCATATCTTTGCTTTCATAGAGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGGTATGGATTGAAATAGTTTCTCATTCTAGA control 32 52 0.04049461 0.0125606 0.0265276 NA NA NA NA NA 0.85 0.85 0.7780842 0.8436495 -0.8095054 -0.8374394 NA NA 0.85 0.8108668 -0.8234724 NA NA NA TRUE NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002429935 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001628572_000 ENSE00001628572 000 10 3141416 3141585 + 51 78 41 NA NA NA NA NA CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 NA NA NA NA NA NA CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG natural NA NA NA NA NA 593 1605 0.9978992 0.8990687 0.948484 NA NA 0.9978992 0.8990687 NA NA 0 0 NA 0.948484 NA 0 NA FALSE NA NA NA NA NA NA PFKP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKP NA NA NA ENSG00000067057 ENSE00003709765 NA NA NA NA NA NA NA 7.083428e-15 FALSE NA ENSE00001628572_001 ENSE00001628572 001 10 3141416 3141585 + 51 78 41 A G 3141426 86 11 CATTTAGTGAGGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099233 3099234 3099234 upstr_intron -41 -0.7843137 CATTTAGTGAGGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 29 44 1 1 1 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.1009313 NA 0.948484 NA 0.05151602 NA FALSE NA 0 -0.273 rs138573995 intron_variant MODIFIER PFKP HGNC 8878 ENST00000407806 2/6 rs138573995 1 G:0.0032 G:0.0121 G:0 NA G:0 G:0 G:0 G:0.0109 G:0 AAG A,G 0.0009884 10:3099234 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 intron_variant 0.103548 0.196 0.0522 0.295142 0.3646449 0.0455939 7.083428e-15 FALSE 0.000810614 ENSE00001628572_002 ENSE00001628572 002 10 3141416 3141585 + 51 78 41 T C 3141428 87 13 CATTTAGTGAAGCTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099235 3099236 3099236 upstr_intron -39 -0.745098 CATTTAGTGAAGCTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 407 214 0.9996233 1 0.9998116 NA NA 0.9978992 0.8990687 NA NA 0.001724035 0.1009313 NA 0.948484 NA 0.05132766 NA FALSE NA 0.001 0.008 . intron_variant MODIFIER PFKP HGNC 8878 ENST00000407806 2/6 rs369578831 1 NA C:0.0002 C:0 GTT T,C 1.647e-05 10:3099236 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 intron_variant -0.120821 0.23363 0.08123 0.295142 0.4773335 0.0455939 7.083428e-15 FALSE 2.06842e-05 ENSE00001628572_003 ENSE00001628572 003 10 3141416 3141585 + 51 78 41 A T 3141431 88 16 CATTTAGTGAAGTTTTTCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099238 3099239 3099239 upstr_intron -36 -0.6862745 CATTTAGTGAAGTTTTTCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 121 886 0.9947839 0.9984823 0.9966331 NA NA 0.9978992 0.8990687 NA NA -0.003115296 0.0994136 NA 0.948484 NA 0.04814915 NA FALSE NA 0 -0.199 . intron_variant MODIFIER PFKP HGNC 8878 ENST00000407806 2/6 1 NA TAT A,T 8.237e-06 10:3099239 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 intron_variant -0.022513 0.33244 0.23909 0.295142 0.6510901 0.0455939 7.083428e-15 FALSE 8.26884e-06 ENSE00001628572_004 ENSE00001628572 004 10 3141416 3141585 + 51 78 41 A C 3141444 89 29 CATTTAGTGAAGTTTATCTCATTTTTAACAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099251 3099252 3099252 upstr_intron -23 -0.4313725 CATTTAGTGAAGTTTATCTCATTTTTAACAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 87 1159 1 0.9978738 0.9989369 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.09880508 NA 0.948484 NA 0.05045292 NA FALSE NA 0 0.339 . intron_variant MODIFIER PFKP HGNC 8878 ENST00000407806 2/6 rs373276680 1 NA C:0.0002 C:0 AAA A,C 1.647e-05 10:3099252 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 intron_variant -0.331875 0.30362 0.38821 0.295142 0.6660959 0.046323 7.083428e-15 FALSE 1.65332e-05 ENSE00001628572_007 ENSE00001628572 007 10 3141416 3141585 + 51 78 41 C T 3141462 92 47 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCTCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099269 3099270 3099270 upstr_intron -5 -0.07843137 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCTCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 28 61 1 1 1 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.1009313 NA 0.948484 NA 0.05151602 NA FALSE NA 0 -0.521 . splice_region_variant&intron_variant LOW PFKP HGNC 8878 ENST00000407806 2/6 1 NA CCC C,T 8.236e-06 10:3099270 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 splice_region_variant 0.285496 0.32787 0.17104 0.295142 0.7779634 0.0862103 7.083428e-15 FALSE 4.10469e-06 ENSE00001628572_008 ENSE00001628572 008 10 3141416 3141585 + 51 78 41 C T 3141472 93 57 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTATCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099279 3099280 3099280 exon 6 0.07692308 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTATCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 549 34 1 1 1 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.1009313 NA 0.948484 NA 0.05151602 NA FALSE NA 1 2.498 . synonymous_variant LOW PFKP HGNC 8878 ENST00000407806 3/7 rs370874746 1 NA T:0 T:0.0001 ACC C,T 1.647e-05 10:3099280 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 missense_variant 1.160252 0.95996 0.90903 0.722319 0.9981635 0 7.083428e-15 FALSE 8.20459e-06 ENSE00001628572_010 ENSE00001628572 010 10 3141416 3141585 + 51 78 41 G C 3141476 95 61 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGCGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099283 3099284 3099284 exon 10 0.1282051 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGCGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 192 38 1 1 1 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.1009313 NA 0.948484 NA 0.05151602 NA FALSE NA 1 9.579 . missense_variant MODERATE PFKP HGNC 8878 ENST00000407806 3/7 1 deleterious(0) probably_damaging(0.999) NA GGG G,C 8.236e-06 10:3099284 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 missense_variant 6.812047 0.98614 0.98916 0.722319 0.9993431 0 7.083428e-15 FALSE 4.10196e-06 ENSE00001628572_011 ENSE00001628572 011 10 3141416 3141585 + 51 78 41 G T 3141477 96 62 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGTCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099284 3099285 3099285 exon 11 0.1410256 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGTCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 1126 360 0.998121 0.9985061 0.9983136 NA NA 0.9978992 0.8990687 NA NA 0.0002217407 0.09943743 NA 0.948484 NA 0.04982959 NA FALSE NA 1 9.579 . missense_variant MODERATE PFKP HGNC 8878 ENST00000407806 3/7 1 deleterious(0) probably_damaging(0.997) NA GGC G,T 8.236e-06 10:3099285 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 missense_variant 6.777172 0.98594 0.98864 0.722319 0.9981373 0 7.083428e-15 FALSE 4.10203e-06 ENSE00001628572_013 ENSE00001628572 013 10 3141416 3141585 + 51 78 41 G A 3141488 98 73 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACAGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099295 3099296 3099296 exon 22 0.2820513 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACAGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 204 572 1 0.9957358 0.9978679 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.09666709 NA 0.948484 NA 0.04938392 NA FALSE NA 1 9.579 . missense_variant MODERATE PFKP HGNC 8878 ENST00000407806 3/7 rs372587471&COSM3978439&COSM3978440 1 deleterious(0) probably_damaging(0.998) NA A:0 A:0.0001 CGG G,A 8.236e-06 10:3099296 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 missense_variant 7.030895 0.98569 0.98719 0.722319 0.999414 0 7.083428e-15 FALSE 8.20358e-06 ENSE00001628572_014 ENSE00001628572 014 10 3141416 3141585 + 51 78 41 C T 3141502 99 87 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATTGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099309 3099310 3099310 exon 36 0.4615385 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATTGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 33 157 1 1 1 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.1009313 NA 0.948484 NA 0.05151602 NA FALSE NA 0.815 0.011 rs139851195 synonymous_variant LOW PFKP HGNC 8878 ENST00000407806 3/7 rs551733263&COSM917673&COSM917674 1 NA TCG C,T 4.118e-05 10:3099310 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 missense_variant 1.388728 0.88812 0.56629 0.722319 0.9944539 0 7.083428e-15 FALSE 4.51182e-05 ENSE00001628572_015 ENSE00001628572 015 10 3141416 3141585 + 51 78 41 G A 3141503 100 88 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCACAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099310 3099311 3099311 exon 37 0.474359 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCACAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 264 245 0.6821402 0.8689651 0.7755527 NA NA 0.9978992 0.8990687 NA NA -0.315759 -0.03010356 NA 0.948484 NA -0.1729313 NA FALSE NA 1 5.01 rs143287169 missense_variant MODERATE PFKP HGNC 8878 ENST00000407806 3/7 rs143287169 1 tolerated(0.21) benign(0.01) NA A:0.0002 A:0.0002 CGC G,A 0.0001235 10:3099311 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 missense_variant 2.102083 0.95289 0.92202 0.722319 0.9884715 0 7.083428e-15 FALSE 0.000110747 ENSE00001628572_016 ENSE00001628572 016 10 3141416 3141585 + 51 78 41 C T 3141510 101 95 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGTCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099317 3099318 3099318 exon -35 0.5641026 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGTCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 229 226 1 1 1 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.1009313 NA 0.948484 NA 0.05151602 NA FALSE NA 0.999 3.818 . missense_variant MODERATE PFKP HGNC 8878 ENST00000407806 3/7 1 tolerated(0.27) benign(0.076) NA GCC C,T 8.236e-06 10:3099318 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 missense_variant 2.33618 0.96838 0.89456 0.722319 0.7770795 0 7.083428e-15 FALSE 4.10182e-06 ENSE00001628572_022 ENSE00001628572 022 10 3141416 3141585 + 51 78 41 G A 3141522 107 107 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAATGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG 3099223 3099393 3099329 3099330 3099330 exon -23 0.7179487 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAATGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 203 156 1 1 1 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.1009313 NA 0.948484 NA 0.05151602 NA FALSE NA 1 6.522 . missense_variant MODERATE PFKP HGNC 8878 ENST00000407806 3/7 rs534446586 1 deleterious(0.03) benign(0.019) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGT G,A 1.647e-05 10:3099330 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 missense_variant 2.762685 0.98266 0.97988 0.722319 0.9953485 0 7.083428e-15 FALSE 1.23059e-05 ENSE00001628572_033 ENSE00001628572 033 10 3141416 3141585 + 51 78 41 G T 3141569 118 154 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGTGTTCTCTGAGTTAGAG 3099223 3099393 3099376 3099377 3099377 downstr_intron 25 1.625 CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGTGTTCTCTGAGTTAGAG CATTTAGTGAAGTTTATCTCATTTTTAAAAGATTCTCCCTTTCTCCCCTAGGGCTACCAGGGCATGGTGGACGGAGGCTCAAACATCGCAGAGGCCGACTGGGAGAGTGTCTCCAGCATCCTGCAAGTGGTAGGTACTGGGCTGCGTCCACAGGGTTCTCTGAGTTAGAG mutant NA NA NA NA NA 130 65 1 1 1 NA NA 0.9978992 0.8990687 NA NA 0.002100756 0.1009313 NA 0.948484 NA 0.05151602 NA FALSE NA 0 0.315 . intron_variant MODIFIER PFKP HGNC 8878 ENST00000407806 3/6 1 NA GGG G,T 8.236e-06 10:3099377 PFKP HGNC Symbol protein_coding 71379 ENSG00000067057 ENSE00003709765 intron_variant -0.097156 0.27609 0.10395 0.099367 0.7324567 0.0686523 7.083428e-15 FALSE NA ENSE00001628677_000 ENSE00001628677 000 6 33137555 33137724 - 53 54 63 NA NA NA NA NA GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 NA NA NA NA NA NA GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC natural 32 22 0.9812929 0.996258 0.9887755 3554 2168 0.7765311 0.9150491 0.8457901 0.9812929 0.996258 0.7765311 0.9150491 0 0 0 0 0.9887755 0.8457901 0 0 0 FALSE FALSE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001628677 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001628677_001 ENSE00001628677 001 6 33137555 33137724 - 53 54 63 C T 33137570 799 155 GGTTGAGGCGGGTGATGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169792 33169793 33169793 downstr_intron 38 1.730769 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCATCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 298 1110 0.9692668 0.9985818 0.9839243 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.1927357 0.08353271 0.9887755 0.8457901 NA 0.1381342 NA FALSE NA 0 -0.398 rs78244274 intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 49/64 rs78244274 1 T:0.1767 T:0.1067 T:0.0807 NA T:0.4881 T:0.0954 T:0.1022 T:0.1003 T:0.0699 ACG C,T 0.105 6:33169793 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 intron_variant -0.206058 0.14924 0.00709 0.126639 0.5852875 0.068533 0.9999993 TRUE 0.104505 ENSE00001628677_002 ENSE00001628677 002 6 33137555 33137724 - 53 54 63 G A 33137571 800 154 GGTTGAGGCGGGTGACAGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169793 33169794 33169794 downstr_intron 37 1.711538 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCTGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 1144 735 0.9950774 0.9980078 0.9965426 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2185463 0.08295876 0.9887755 0.8457901 NA 0.1507525 NA FALSE NA 0.001 0.295 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 49/64 rs540252944 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 CGG G,A 4.942e-05 6:33169794 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 intron_variant 0.064632 0.20909 0.0139 0.126639 0.7325813 0.068533 0.9999993 TRUE 3.6564e-05 ENSE00001628677_003 ENSE00001628677 003 6 33137555 33137724 - 53 54 63 A C 33137582 801 143 GGTTGAGGCGGGTGACGGGGACTGGGGCGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169804 33169805 33169805 downstr_intron 26 1.5 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACGCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 136 115 1 1 1 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2234689 0.08495092 0.9887755 0.8457901 NA 0.1542099 NA FALSE NA 0 -0.134 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 49/64 1 NA GAG A,C 8.236e-06 6:33169805 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 intron_variant -0.090311 0.28242 0.01706 0.126639 0.7363928 0.0526996 0.9999993 TRUE 4.06937e-06 ENSE00001628677_004 ENSE00001628677 004 6 33137555 33137724 - 53 54 63 C T 33137613 802 112 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGATACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169835 33169836 33169836 exon -6 0.9074074 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTATCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 251 145 0.9767796 1 0.9883898 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2002485 0.08495092 0.9887755 0.8457901 NA 0.1425997 NA FALSE NA 0.029 1.109 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 49/65 1 unknown(0) NA ACA C,T 8.236e-06 6:33169836 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 missense_variant 3.152835 0.93089 0.1389 0.554377 0.9832927 0 0.9999993 TRUE 4.06128e-06 ENSE00001628677_006 ENSE00001628677 006 6 33137555 33137724 - 53 54 63 G A 33137623 804 102 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCACCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169845 33169846 33169846 exon -16 0.7222222 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGTGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 119 85 1 0.999551 0.9997755 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2234689 0.08450193 0.9887755 0.8457901 NA 0.1539854 NA FALSE NA 0 -5.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:33169846 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 synonymous_variant 1.357817 0.20911 0.00824 0.615465 0.7684246 0 0.9999993 TRUE 5.28022e-05 ENSE00001628677_007 ENSE00001628677 007 6 33137555 33137724 - 53 54 63 G T 33137623 805 102 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCTCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169845 33169846 33169846 exon -16 0.7222222 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGAGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 311 1566 0.9934478 1 0.9967239 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2169167 0.08495092 0.9887755 0.8457901 NA 0.1509338 NA FALSE NA 0 -5.57 NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001628677 synonymous_variant 0.933633 0.19175 0.00478 0.615465 0.7945667 0 0.9999993 TRUE NA ENSE00001628677_008 ENSE00001628677 008 6 33137555 33137724 - 53 54 63 C T 33137626 806 99 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCTTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169848 33169849 33169849 exon -19 0.6666667 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAAGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 377 134 1 0.9985672 0.9992836 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2234689 0.08351812 0.9887755 0.8457901 NA 0.1534935 NA FALSE NA 0.029 0.385 . synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 49/65 1 NA CCT C,T 8.236e-06 6:33169849 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 synonymous_variant 1.280098 0.91972 0.14438 0.615465 0.6989452 0 0.9999993 TRUE 4.06124e-06 ENSE00001628677_010 ENSE00001628677 010 6 33137555 33137724 - 53 54 63 T C 33137644 808 81 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCCGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169866 33169867 33169867 exon 18 0.3333333 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCGGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 415 410 1 1 1 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2234689 0.08495092 0.9887755 0.8457901 NA 0.1542099 NA FALSE NA 0.001 -0.708 rs146962984 synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 49/65 rs146962984 1 C:0.0008 C:0 C:0 NA C:0 C:0 C:0.0041 C:0.0002 C:0.0003 CTG T,C 0.0002389 6:33169867 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 synonymous_variant 0.253974 0.87995 0.04403 0.615465 0.7045814 0 0.9999993 TRUE 0.000280212 ENSE00001628677_011 ENSE00001628677 011 6 33137555 33137724 - 53 54 63 G A 33137645 809 80 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTAACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169867 33169868 33169868 exon 17 0.3148148 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTTAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 198 293 1 0.9943275 0.9971637 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2234689 0.07927837 0.9887755 0.8457901 NA 0.1513736 NA FALSE NA 0.327 1.781 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 49/65 rs375065728 1 unknown(0) NA A:0 A:0.0001 TGA G,A 2.471e-05 6:33169868 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 missense_variant 4.031038 0.95186 0.09383 0.615465 0.9964683 0 0.9999993 TRUE 1.21837e-05 ENSE00001628677_012 ENSE00001628677 012 6 33137555 33137724 - 53 54 63 T C 33137653 810 72 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCCGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169875 33169876 33169876 exon 9 0.1666667 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCGGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 1206 548 0.9687727 0.999652 0.9842123 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.1922416 0.08460293 0.9887755 0.8457901 NA 0.1384223 NA FALSE NA 0.002 -0.449 . synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 49/65 1 NA CTG T,C 8.236e-06 6:33169876 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 synonymous_variant 0.197619 0.92322 0.10205 0.554377 0.7615161 0 0.9999993 TRUE 8.12236e-06 ENSE00001628677_013 ENSE00001628677 013 6 33137555 33137724 - 53 54 63 G A 33137664 811 61 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTACAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169886 33169887 33169887 upstr_intron -3 -0.03174603 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGTAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 145 921 1 0.8273455 0.9136727 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2234689 -0.08770359 0.9887755 0.8457901 NA 0.06788266 NA FALSE NA 0.997 1.598 . splice_region_variant&intron_variant LOW COL11A2 HGNC 2187 ENST00000395197 48/64 1 NA TGC G,A 8.236e-06 6:33169887 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 splice_region_variant 1.643727 0.83806 0.36301 0.126639 0.7804958 0.477811 0.9999993 TRUE 4.06124e-06 ENSE00001628677_014 ENSE00001628677 014 6 33137555 33137724 - 53 54 63 C T 33137686 812 39 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAATCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169908 33169909 33169909 upstr_intron -25 -0.3809524 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGATTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 829 185 0.9046792 1 0.9523396 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.1281482 0.08495092 0.9887755 0.8457901 NA 0.1065495 NA FALSE NA 0 0.097 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 48/64 rs369527072 1 NA T:0 T:0.0001 ACC C,T 8.236e-06 6:33169909 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 intron_variant 0.126448 0.29078 0.02401 0.126639 0.6076465 0.116382 0.9999993 TRUE 4.06141e-06 ENSE00001628677_016 ENSE00001628677 016 6 33137555 33137724 - 53 54 63 T C 33137688 814 37 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCCCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169910 33169911 33169911 upstr_intron -27 -0.4126984 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGGGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 270 464 0.9929327 1 0.9964664 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2164016 0.08495092 0.9887755 0.8457901 NA 0.1506763 NA FALSE NA 0 -0.382 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 48/64 1 NA CTC T,C 0.0001318 6:33169911 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 intron_variant 0.231983 0.35776 0.02969 0.126639 0.7039364 0.116382 0.9999993 TRUE 0.000125906 ENSE00001628677_017 ENSE00001628677 017 6 33137555 33137724 - 53 54 63 C T 33137689 815 36 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTTCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169911 33169912 33169912 upstr_intron -28 -0.4285714 GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGAAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 760 179 0.9892544 1 0.9946272 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2127233 0.08495092 0.9887755 0.8457901 NA 0.1488371 NA FALSE NA 0 -0.659 rs9277929 intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 48/64 rs9277929 1 T:0.0853 T:0.0303 T:0.0533 NA T:0.0486 T:0.1074 T:0.1973 T:0.0429 T:0.1092 TCC C,T 0.107 6:33169912 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 intron_variant 0.154617 0.27292 0.02121 0.126639 0.6064739 0.116382 0.9999993 TRUE 0.104488 ENSE00001628677_018 ENSE00001628677 018 6 33137555 33137724 - 53 54 63 C T 33137699 816 26 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCTCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 33169921 33169922 33169922 upstr_intron -38 -0.5873016 GGGAATATCAGAATTTTTTGGCTGGAGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 712 769 0.9990132 0.9610986 0.9800559 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.2224822 0.04604951 0.9887755 0.8457901 NA 0.1342658 NA FALSE NA 0.001 -0.534 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 48/64 1 NA CCC C,T 2.471e-05 6:33169922 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 intron_variant 0.055755 0.29559 0.00499 0.126639 0.2001673 0.169136 0.9999993 TRUE 2.03133e-05 ENSE00001628677_019 ENSE00001628677 019 6 33137555 33137724 - 53 54 63 G A 33137703 817 22 GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCACCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCCTGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAACCAAAAAATTCTGATATTCCC 33169777 33169947 33169925 33169926 33169926 upstr_intron -42 -0.6507937 GGGAATATCAGAATTTTTTGGTTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC mutant NA NA NA NA NA 338 179 0.9022991 1 0.9511495 0.9812929 0.996258 0.7765311 0.9150491 NA NA 0.125768 0.08495092 0.9887755 0.8457901 NA 0.1053595 NA FALSE NA 0 -0.495 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 48/64 1 NA AGC G,A 8.236e-06 6:33169926 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001628677 intron_variant -0.053752 0.16844 0.0015 0.126639 0.2252536 0.113275 0.9999993 TRUE 4.06349e-06 ENSE00001628677_BRK ENSE00001628677 BRK 6 33137555 33137724 - 53 54 63 A,G; T,T NA NA NA GGTTGAGGCGGGTGACGGGGACTGGGGAGTAAGGCCTTGGAGCTGTCACTCGGCTTGACACCTGGCTCGCCCTGGATCCCTGGAGATCCTGACTCTCCTGGTTCCCCAAGCAAAGAGATTAGAGTCAAAAACCTCCTCTCCTTCCCCAGCCAAAAAATTCTGATATTCCC 33169777 33169947 NA NA NA NA NA NA GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCTTGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGCCGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC GGGAATATCAGAATTTTTTGGCTGGGGAAGGAGAGGAGGTTTTTGACTCTAATCTCTTTGCAGGGGGAACCAGGAGAGTCAGGATCTCCAGGGATCCAGGGCGAGCCAGGTGTCAAGGTGAGTGACAGCTCCAAGGCCTTACTCCCCAGTCCCCGTCACCCGCCTCAACC control NA NA NA NA NA 299 150 0 0 0 0.9812929 0.996258 0.7765311 0.9150491 NA NA -0.7765311 -0.9150491 0.9887755 0.8457901 NA -0.8457901 NA TRUE NA NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001628677 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001629189_000 ENSE00001629189 000 6 30547655 30547824 + 53 75 42 NA NA NA NA NA TTCCTGGGCCCCAATACCTCCTCCTGCTAGTTACTCTCTCACCTTAGCCTTCCCTTTTGACTTCTCTTCCTTTCCCTTTTTGCCCTTGAGTGCAGGCTGCTGTTCCTCAGATACGGCCTGGAGGAGACACACATACACATTACACACATACATACAAATTATTGTGCTAC 30579877 30580047 NA NA NA NA NA NA GTAGCACAATAATTTGTATGTATGTGTGTAATGTGTATGTGTGTCTCCTCCAGGCCGTATCTGAGGAACAGCAGCCTGCACTCAAGGGCAAAAAGGGAAAGGAAGAGAAGTCAAAAGGGAAGGCTAAGGTGAGAGAGTAACTAGCAGGAGGAGGTATTGGGGCCCAGGAA GTAGCACAATAATTTGTATGTATGTGTGTAATGTGTATGTGTGTCTCCTCCAGGCCGTATCTGAGGAACAGCAGCCTGCACTCAAGGGCAAAAAGGGAAAGGAAGAGAAGTCAAAAGGGAAGGCTAAGGTGAGAGAGTAACTAGCAGGAGGAGGTATTGGGGCCCAGGAA natural 325 504 0.85 0.8479307 0.8489654 1087 1337 0.8906923 0.8316456 0.8611689 0.85 0.8479307 0.8906923 0.8316456 0 0 0 0 0.8489654 0.8611689 0 0 0 FALSE FALSE NA NA NA NA NA ABCF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCF1 NA NA NA ENSG00000204574 ENSE00001629189 NA NA NA NA NA NA NA 2.730242e-06 FALSE NA ENSE00001629189_016 ENSE00001629189 016 6 30547655 30547824 + 53 75 42 A G 30547738 517 84 TTCCTGGGCCCCAATACCTCCTCCTGCTAGTTACTCTCTCACCTTAGCCTTCCCTTTTGACTTCTCTTCCTTTCCCTTTTTGCCCTCGAGTGCAGGCTGCTGTTCCTCAGATACGGCCTGGAGGAGACACACATACACATTACACACATACATACAAATTATTGTGCTAC 30579877 30580047 30579960 30579961 30579961 exon 31 0.4133333 GTAGCACAATAATTTGTATGTATGTGTGTAATGTGTATGTGTGTCTCCTCCAGGCCGTATCTGAGGAACAGCAGCCTGCACTCGAGGGCAAAAAGGGAAAGGAAGAGAAGTCAAAAGGGAAGGCTAAGGTGAGAGAGTAACTAGCAGGAGGAGGTATTGGGGCCCAGGAA GTAGCACAATAATTTGTATGTATGTGTGTAATGTGTATGTGTGTCTCCTCCAGGCCGTATCTGAGGAACAGCAGCCTGCACTCAAGGGCAAAAAGGGAAAGGAAGAGAAGTCAAAAGGGAAGGCTAAGGTGAGAGAGTAACTAGCAGGAGGAGGTATTGGGGCCCAGGAA mutant NA NA NA NA NA 163 14 0.9356527 0.8177307 0.8766917 0.85 0.8479307 0.8906923 0.8316456 NA NA 0.04496042 -0.01391485 0.8489654 0.8611689 NA 0.01552279 NA FALSE NA 0.492 2.557 . missense_variant MODERATE ABCF1 HGNC 70 ENST00000441867 7/11 1 NA CAA A,G 3.392e-05 6:30579961 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00001629189 missense_variant 0.59496 0.41653 0.13844 0.706548 0.9936801 0 2.730242e-06 FALSE 2.07484e-05 ENSE00001629189_BRK ENSE00001629189 BRK 6 30547655 30547824 + 53 75 42 A,G; T,T NA NA NA TTCCTGGGCCCCAATACCTCCTCCTGCTAGTTACTCTCTCGGCTTAGCCTTCCCTTTTGACTTCTCTTCCTTTCCCTTTTTGCCCTTGAGTGCAGGCTGCTGTTCCTCAGATACGGCAAGGAGGAGACACACATACACATTACACACATACATACAAATTATTGTGCTAC 30579877 30580047 NA NA NA NA NA NA GTAGCACAATAATTTGTATGTATGTGTGTAATGTGTATGTGTGTCTCCTCCTTGCCGTATCTGAGGAACAGCAGCCTGCACTCAAGGGCAAAAAGGGAAAGGAAGAGAAGTCAAAAGGGAAGGCTAAGCCGAGAGAGTAACTAGCAGGAGGAGGTATTGGGGCCCAGGAA GTAGCACAATAATTTGTATGTATGTGTGTAATGTGTATGTGTGTCTCCTCCAGGCCGTATCTGAGGAACAGCAGCCTGCACTCAAGGGCAAAAAGGGAAAGGAAGAGAAGTCAAAAGGGAAGGCTAAGGTGAGAGAGTAACTAGCAGGAGGAGGTATTGGGGCCCAGGAA control 310 43 0 0 0 NA NA NA NA NA 0.85 0.8479307 0.8906923 0.8316456 -0.85 -0.8479307 NA NA 0.8489654 0.8611689 -0.8489654 NA NA NA TRUE NA NA NA NA NA ABCF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCF1 NA NA NA ENSG00000204574 ENSE00001629189 NA NA NA NA NA NA NA 2.730242e-06 FALSE NA ENSE00001629231_000 ENSE00001629231 000 2 28766017 28766186 + 62 57 51 NA NA NA NA NA TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 NA NA NA NA NA NA TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC natural 23 14 0.9971928 0.9966222 0.9969075 922 792 0.8714965 0.9110389 0.8912677 0.9971928 0.9966222 0.8714965 0.9110389 0 0 0 0 0.9969075 0.8912677 0 0 0 FALSE FALSE NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001629231 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001629231_001 ENSE00001629231 001 2 28766017 28766186 + 62 57 51 A G 28766044 622 28 TAGCAGGTCCGTTGCATTCCTGGGGAGGCAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543176 28543177 28543177 upstr_intron -35 -0.5483871 TAGCAGGTCCGTTGCATTCCTGGGGAGGCAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 56 572 1 1 1 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.1285035 0.08896111 0.9969075 0.8912677 NA 0.1087323 NA FALSE NA 0 -1.029 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 rs367699503 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 GAC A,G 4.127e-05 2:28543177 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 intron_variant 0.018826 0.10221 0.00873 0.053691 0.5179768 0.0463016 1.993153e-56 FALSE 1.00082e-05 ENSE00001629231_003 ENSE00001629231 003 2 28766017 28766186 + 62 57 51 G A 28766056 624 40 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCACTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543188 28543189 28543189 upstr_intron -23 -0.3548387 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCACTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 122 245 0.9984013 0.9876834 0.9930423 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.1269048 0.07664448 0.9969075 0.8912677 NA 0.1017746 NA FALSE NA 0 -0.052 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 1 NA CGC G,A 8.244e-06 2:28543189 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 intron_variant -0.04428 0.14352 0.01464 0.053691 0.4394292 0.0601456 1.993153e-56 FALSE NA ENSE00001629231_006 ENSE00001629231 006 2 28766017 28766186 + 62 57 51 G C 28766081 627 65 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGACGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543213 28543214 28543214 exon 3 0.05263158 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGACGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 128 195 0.9990315 1 0.9995157 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.127535 0.08896111 0.9969075 0.8912677 NA 0.108248 NA FALSE NA 0 -0.266 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28543214 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 missense_variant -0.927665 0.17199 0.027 0.497415 0.5719265 0 1.993153e-56 FALSE 8.45845e-06 ENSE00001629231_007 ENSE00001629231 007 2 28766017 28766186 + 62 57 51 C A 28766084 628 68 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGAACCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543216 28543217 28543217 exon 6 0.1052632 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGAACCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 427 1157 0.9860732 0.9988737 0.9924735 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.1145767 0.08783485 0.9969075 0.8912677 NA 0.1012058 NA FALSE NA 0 -0.667 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28543217 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 missense_variant -1.649426 0.14297 0.00544 0.497415 0.2466939 0 1.993153e-56 FALSE NA ENSE00001629231_012 ENSE00001629231 012 2 28766017 28766186 + 62 57 51 G A 28766089 633 73 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCAACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543221 28543222 28543222 exon 11 0.1929825 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCAACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 96 40 0.8721981 0.8062815 0.8392398 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.0007016037 -0.1047574 0.9969075 0.8912677 NA -0.0520279 NA FALSE NA 0 -0.884 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 rs547926410 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 5.766e-05 2:28543222 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 missense_variant -0.675269 0.11251 0.00799 0.497415 0.6177668 0 1.993153e-56 FALSE 3.75852e-05 ENSE00001629231_014 ENSE00001629231 014 2 28766017 28766186 + 62 57 51 G A 28766097 635 81 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGAATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543229 28543230 28543230 exon 19 0.3333333 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGAATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 251 760 1 0.9942348 0.9971174 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.1285035 0.08319593 0.9969075 0.8912677 NA 0.1058497 NA FALSE NA 0.96 1.834 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 COSM1690352&COSM1690353 1 NA GGA G,A 8.237e-06 2:28543230 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 missense_variant -0.309841 0.33234 0.47205 0.497415 0.9493308 0 1.993153e-56 FALSE 4.14883e-06 ENSE00001629231_017 ENSE00001629231 017 2 28766017 28766186 + 62 57 51 G A 28766108 638 92 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACACTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543240 28543241 28543241 exon -28 0.5263158 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACACTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 166 78 0.9979997 1 0.9989998 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.1265032 0.08896111 0.9969075 0.8912677 NA 0.1077321 NA FALSE NA 0 -3.722 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 1 NA CGC G,A 8.238e-06 2:28543241 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 synonymous_variant 0.155142 0.03078 0.00095 0.497415 0.4054414 0 1.993153e-56 FALSE NA ENSE00001629231_018 ENSE00001629231 018 2 28766017 28766186 + 62 57 51 C T 28766113 639 97 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGTCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543245 28543246 28543246 exon -23 0.6140351 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGTCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 250 888 1 1 1 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.1285035 0.08896111 0.9969075 0.8912677 NA 0.1087323 NA FALSE NA 0.506 1.183 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 1 NA GCC C,T 8.238e-06 2:28543246 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 missense_variant 2.537451 0.27651 0.2219 0.497415 0.9960558 0 1.993153e-56 FALSE NA ENSE00001629231_022 ENSE00001629231 022 2 28766017 28766186 + 62 57 51 C G 28766150 643 134 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGGCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543282 28543283 28543283 downstr_intron 15 1.3 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGGCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 127 57 1 1 1 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.1285035 0.08896111 0.9969075 0.8912677 NA 0.1087323 NA FALSE NA 0.016 -0.357 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 1 NA GCC C,G 8.242e-06 2:28543283 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 intron_variant 0.39631 0.19038 0.08573 0.053691 0.5397989 0.0851235 1.993153e-56 FALSE 4.27102e-06 ENSE00001629231_024 ENSE00001629231 024 2 28766017 28766186 + 62 57 51 G A 28766159 645 143 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGAGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 28543291 28543292 28543292 downstr_intron 24 1.48 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGAGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 14 106 1 0.9924657 0.9962328 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.1285035 0.08142676 0.9969075 0.8912677 NA 0.1049652 NA FALSE NA 0 -0.248 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 1 NA GGG G,A 8.243e-06 2:28543292 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 intron_variant -0.223362 0.15179 0.02131 0.053691 0.5621824 0.0851235 1.993153e-56 FALSE NA ENSE00001629231_025 ENSE00001629231 025 2 28766017 28766186 + 62 57 51 G A 28766170 646 154 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAAGAGGGGCAAGGTCTCC 28543149 28543319 28543302 28543303 28543303 downstr_intron 35 1.7 TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAAGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC mutant NA NA NA NA NA 450 337 0.9979504 1 0.9989752 0.9971928 0.9966222 0.8714965 0.9110389 NA NA 0.126454 0.08896111 0.9969075 0.8912677 NA 0.1077075 NA FALSE NA 0.007 0.029 . downstream_gene_variant MODIFIER PLB1 HGNC 30041 ENST00000416713 1 NA AGG G,A 0.0001155 2:28543303 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001629231 intron_variant 0.107368 0.16291 0.00188 0.053691 0.4707181 0.0851235 1.993153e-56 FALSE 7.01748e-05 ENSE00001629231_BRK ENSE00001629231 BRK 2 28766017 28766186 + 62 57 51 A,G; T,T NA NA NA TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTTTGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGCCGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC 28543149 28543319 NA NA NA NA NA NA TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTTTGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGCCGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC TAGCAGGTCCGTTGCATTCCTGGGGAGACAAAAGGTCCCGCTGTCAACTGGTTCTCTTTTAGGAGGACCCCCGACTCCAGGATTCTACCACGCTGGCCTGGCATCTCTGGAATAGGATGGTGAGTAGATGGGGCCTGGGGTGGGGCCCACAGAGGAGGGGCAAGGTCTCC control NA NA NA NA NA 44 175 0 0 0 0.9971928 0.9966222 0.8714965 0.9110389 NA NA -0.8714965 -0.9110389 0.9969075 0.8912677 NA -0.8912677 NA TRUE NA NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001629231 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001629650_000 ENSE00001629650 000 3 47437580 47437749 + 53 75 42 NA NA NA NA NA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 NA NA NA NA NA NA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA natural 80 66 0.9960672 0.9934567 0.9947619 1749 2785 0.9342294 0.9968577 0.9655436 0.9960672 0.9934567 0.9342294 0.9968577 0 0 0 0 0.9947619 0.9655436 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN23 NA NA NA ENSG00000076201 ENSE00003548306 NA NA NA NA NA NA NA 0.6475968 FALSE NA ENSE00001629650_002 ENSE00001629650 002 3 47437580 47437749 + 53 75 42 C T 47437610 854 31 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGTTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396119 47396120 47396120 upstr_intron -23 -0.4150943 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGTTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 254 1171 0.997544 0.9978592 0.9977016 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.06331462 0.001001442 0.9947619 0.9655436 NA 0.03215803 NA FALSE NA 0 -1.256 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:47396120 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 intron_variant 0.293976 0.0709 0.00366 0.295142 0.6226539 0.0455939 0.6475968 FALSE 8.22754e-06 ENSE00001629650_003 ENSE00001629650 003 3 47437580 47437749 + 53 75 42 C A 47437610 855 31 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGATTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396119 47396120 47396120 upstr_intron -23 -0.4150943 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGATTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 178 24 0.9885806 1 0.9942903 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.0543512 0.003142281 0.9947619 0.9655436 NA 0.02874674 NA FALSE NA 0 -1.256 NA NA NA PTPN23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN23 NA NA NA ENSG00000076201 ENSE00003548306 intron_variant 0.379651 0.17448 0.03825 0.295142 0.7224231 0.0455939 0.6475968 FALSE 4.11377e-06 ENSE00001629650_004 ENSE00001629650 004 3 47437580 47437749 + 53 75 42 T G 47437612 856 33 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTGATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396121 47396122 47396122 upstr_intron -21 -0.3773585 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTGATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 89 728 1 0.9880286 0.9940143 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.06577059 -0.008829084 0.9947619 0.9655436 NA 0.02847076 NA FALSE NA 0 -0.707 . intron_variant MODIFIER PTPN23 HGNC 14406 ENST00000431726 1/23 rs373638778 1 NA G:0.0002 G:0 TTA T,G 1.647e-05 3:47396122 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 intron_variant 0.452373 0.18204 0.133 0.295142 0.7052346 0.0455939 0.6475968 FALSE 8.21551e-06 ENSE00001629650_007 ENSE00001629650 007 3 47437580 47437749 + 53 75 42 A G 47437649 859 70 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTGTGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396158 47396159 47396159 exon 17 0.2266667 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTGTGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 114 109 1 0.9698533 0.9849267 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.06577059 -0.02700439 0.9947619 0.9655436 NA 0.0193831 NA FALSE NA 1 6.946 . 5_prime_UTR_variant MODIFIER PTPN23 HGNC 14406 ENST00000431726 2/24 1 NA TAT A,G 8.236e-06 3:47396159 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 missense_variant 4.589142 0.99007 0.98472 0.722319 0.9973611 0 0.6475968 FALSE NA ENSE00001629650_008 ENSE00001629650 008 3 47437580 47437749 + 53 75 42 T C 47437650 860 71 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTACGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396159 47396160 47396160 exon 18 0.24 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTACGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 127 778 1 0.9983193 0.9991597 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.06577059 0.001461592 0.9947619 0.9655436 NA 0.03361609 NA FALSE NA 0.931 -0.035 . 5_prime_UTR_variant MODIFIER PTPN23 HGNC 14406 ENST00000431726 2/24 1 NA ATG T,C 1.647e-05 3:47396160 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 synonymous_variant -0.065318 0.95257 0.75956 0.722319 0.4170309 0 0.6475968 FALSE 8.12982e-06 ENSE00001629650_009 ENSE00001629650 009 3 47437580 47437749 + 53 75 42 G A 47437654 861 75 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAAAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396163 47396164 47396164 exon 22 0.2933333 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAAAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 253 341 0.9988558 0.9995359 0.9991958 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.06462637 0.002678208 0.9947619 0.9655436 NA 0.03365229 NA FALSE NA 1 9.261 . 5_prime_UTR_variant MODIFIER PTPN23 HGNC 14406 ENST00000431726 2/24 1 NA AGA G,A 8.236e-06 3:47396164 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 missense_variant 5.568834 0.99248 0.99115 0.722319 0.9993688 0 0.6475968 FALSE 4.06408e-06 ENSE00001629650_011 ENSE00001629650 011 3 47437580 47437749 + 53 75 42 A G 47437670 863 91 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTGCAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396179 47396180 47396180 exon -38 0.5066667 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTGCAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 931 420 0.9983499 0.9995457 0.9989478 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.0641205 0.002687933 0.9947619 0.9655436 NA 0.03340422 NA FALSE NA 1 8.76 . 5_prime_UTR_variant MODIFIER PTPN23 HGNC 14406 ENST00000431726 2/24 1 NA TAC A,G 8.236e-06 3:47396180 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 missense_variant 4.206398 0.98985 0.99031 0.722319 0.9982776 0 0.6475968 FALSE 4.0621e-06 ENSE00001629650_012 ENSE00001629650 012 3 47437580 47437749 + 53 75 42 A G 47437673 864 94 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAGTGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396182 47396183 47396183 exon -35 0.5466667 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAGTGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 287 176 1 1 1 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.06577059 0.003142281 0.9947619 0.9655436 NA 0.03445644 NA FALSE NA 1 5.629 . 5_prime_UTR_variant MODIFIER PTPN23 HGNC 14406 ENST00000431726 2/24 1 NA AAT A,G 1.647e-05 3:47396183 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 missense_variant 1.455248 0.98353 0.96702 0.722319 0.7102519 0 0.6475968 FALSE 1.21861e-05 ENSE00001629650_014 ENSE00001629650 014 3 47437580 47437749 + 53 75 42 C T 47437690 866 111 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGTTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396199 47396200 47396200 exon -18 0.7733333 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGTTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 935 237 0.9998361 0.868076 0.933956 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.06560666 -0.1287817 0.9947619 0.9655436 NA -0.03158753 NA FALSE NA 1 4.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:47396200 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 synonymous_variant 1.300709 0.98224 0.95485 0.722319 0.7291243 0 0.6475968 FALSE 2.03169e-05 ENSE00001629650_015 ENSE00001629650 015 3 47437580 47437749 + 53 75 42 C G 47437690 867 111 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGGTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396199 47396200 47396200 exon -18 0.7733333 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGGTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 119 398 0.9755395 1 0.9877698 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.04131014 0.003142281 0.9947619 0.9655436 NA 0.02222621 NA FALSE NA 1 4.53 NA NA NA PTPN23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN23 NA NA NA ENSG00000076201 ENSE00003548306 missense_variant 3.643259 0.98366 0.97292 0.722319 0.9980689 0 0.6475968 FALSE 4.06339e-06 ENSE00001629650_016 ENSE00001629650 016 3 47437580 47437749 + 53 75 42 G A 47437712 868 133 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGAAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396221 47396222 47396222 downstr_intron 5 1.121951 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGAAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 915 1907 0.9919626 0.9998002 0.9958814 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.05773321 0.002942467 0.9947619 0.9655436 NA 0.03033784 NA FALSE NA 1 8.3 . splice_region_variant&intron_variant LOW PTPN23 HGNC 14406 ENST00000431726 2/23 1 NA GGA G,A 6.589e-05 3:47396222 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 splice_region_variant 2.063462 0.9848 0.99424 0.099367 0.9394887 0.909602 0.6475968 FALSE 5.6993e-05 ENSE00001629650_017 ENSE00001629650 017 3 47437580 47437749 + 53 75 42 G C 47437715 869 136 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGCATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396224 47396225 47396225 downstr_intron 8 1.195122 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGCATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 377 690 0.9962574 0.9998344 0.9980459 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.06202804 0.002976645 0.9947619 0.9655436 NA 0.03250234 NA FALSE NA 0 -0.909 . splice_region_variant&intron_variant LOW PTPN23 HGNC 14406 ENST00000431726 2/23 1 NA GGA G,C 8.236e-06 3:47396225 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 splice_region_variant -0.200655 0.17719 0.04286 0.099367 0.5045372 0.172559 0.6475968 FALSE 1.22295e-05 ENSE00001629650_018 ENSE00001629650 018 3 47437580 47437749 + 53 75 42 T C 47437720 870 141 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGCATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 47396229 47396230 47396230 downstr_intron 13 1.317073 GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGCATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA mutant NA NA NA NA NA 177 226 0.993 1 0.9965 0.9960672 0.9934567 0.9342294 0.9968577 NA NA 0.05877063 0.003142281 0.9947619 0.9655436 NA 0.03095646 NA FALSE NA 0.009 0.473 . intron_variant MODIFIER PTPN23 HGNC 14406 ENST00000431726 2/23 1 NA GTA T,C 8.236e-06 3:47396230 PTPN23 HGNC Symbol protein_coding 32430 ENSG00000076201 ENSE00003548306 non_coding_transcript_exon_variant -0.065246 0.18983 0.03743 0.099367 0.4615997 0.157936 0.6475968 FALSE NA ENSE00001629650_BRK ENSE00001629650 BRK 3 47437580 47437749 + 53 75 42 A,G; T,T NA NA NA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTTTTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGCCAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA 47396089 47396259 NA NA NA NA NA NA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTTTTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGCCAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA GGGCAAGGCGGGGGTCTTCTCTGCCACTGGCTTATGTTCTTCTCTCTCTGTAGTTTGTCCTGAAGAATTATGGAGAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGGTAGGAGGATAGTATTATCTTTTTATGCATGGGTAGACAGGA control 98 174 0.9053272 0.9331453 0.9192363 NA NA NA NA NA 0.9960672 0.9934567 0.9342294 0.9968577 -0.09073993 -0.06031142 NA NA 0.9947619 0.9655436 -0.07552568 NA NA NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003548306 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001629985_000 ENSE00001629985 000 4 15480299 15480468 + 48 84 38 NA NA NA NA NA ATGACAATACGCAGACACAGTTTCTTGTCACTTCTTACCTGTTTCTTTCTTGGCTGTCTTCGAACCTTTGAGTTCTTATTCTGTCTTCCCATGTCTGCATCCTCATCATTTTCAATGAACTCCTTTGTGAAAATGCAAAAGGGAGAGAATCTTAAGACAGGAAGAGAGGT 15478674 15478844 NA NA NA NA NA NA ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT natural 13 13 1 0.9636083 0.9818041 1789 6522 0.9939541 0.9233379 0.958646 1 0.9636083 0.9939541 0.9233379 0 0 0 0 0.9818041 0.958646 0 0 0 FALSE FALSE NA NA NA NA NA CC2D2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CC2D2A NA NA NA ENSG00000048342 ENSE00003512227 NA NA NA NA NA NA NA 5.494064e-15 FALSE NA ENSE00001629985_003 ENSE00001629985 003 4 15480299 15480468 + 48 84 38 G C 15480362 575 64 ATGACAATACGCAGACACAGTTTCTTGTCACTTCTTACCTGTTTCTTTCTTGGCTGTCTTCGAACCTTTGAGTTCTTATTCTGTCTTCCCATGTCTGCATCCTCATGATTTTCAATGAACTCCTTTGTGAAAATGCAAAAGGGAGAGAATCTTAAGACAGGAAGAGAGGT 15478674 15478844 15478737 15478738 15478738 exon 16 0.1904762 ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATCATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT mutant NA NA NA NA NA 55 153 0.9635187 1 0.9817593 1 0.9636083 0.9939541 0.9233379 NA NA -0.03043541 0.0766621 0.9818041 0.958646 NA 0.02311334 NA FALSE NA 0.002 0.274 . missense_variant MODERATE CC2D2A HGNC 29253 ENST00000503292 4/38 1 deleterious_low_confidence(0.03) possibly_damaging(0.468) NA TGA G,C 9.207e-06 4:15478738 CC2D2A HGNC Symbol protein_coding 131692 ENSG00000048342 ENSE00003512227 missense_variant 1.646069 0.20992 0.10516 0.516011 0.8885891 0 5.494064e-15 FALSE 1.27455e-05 ENSE00001629985_004 ENSE00001629985 004 4 15480299 15480468 + 48 84 38 A T 15480377 576 79 ATGACAATACGCAGACACAGTTTCTTGTCACTTCTTACCTGTTTCTTTCTTGGCTGTCTTCGAACCTTTGAGTTCTTATTCTGTCTTCCCAAGTCTGCATCCTCATCATTTTCAATGAACTCCTTTGTGAAAATGCAAAAGGGAGAGAATCTTAAGACAGGAAGAGAGGT 15478674 15478844 15478752 15478753 15478753 exon 31 0.3690476 ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACTTGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT mutant NA NA NA NA NA 55 410 0.9742351 0.9878077 0.9810214 1 0.9636083 0.9939541 0.9233379 NA NA -0.01971901 0.06446979 0.9818041 0.958646 NA 0.02237539 NA FALSE NA 0.004 1.528 . missense_variant MODERATE CC2D2A HGNC 29253 ENST00000503292 4/38 1 tolerated_low_confidence(0.19) benign(0) NA CAT A,T 9.201e-06 4:15478753 CC2D2A HGNC Symbol protein_coding 131692 ENSG00000048342 ENSE00003512227 missense_variant -1.519508 0.2529 0.06143 0.516011 0.3897684 0 5.494064e-15 FALSE 1.90006e-05 ENSE00001629985_005 ENSE00001629985 005 4 15480299 15480468 + 48 84 38 A G 15480389 577 91 ATGACAATACGCAGACACAGTTTCTTGTCACTTCTTACCTGTTTCTTTCTTGGCTGTCTTCGAACCTTTGAGTTCTTATCCTGTCTTCCCATGTCTGCATCCTCATCATTTTCAATGAACTCCTTTGTGAAAATGCAAAAGGGAGAGAATCTTAAGACAGGAAGAGAGGT 15478674 15478844 15478764 15478765 15478765 exon -42 0.5119048 ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGGATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT mutant NA NA NA NA NA 285 625 0.996758 0.9997469 0.9982524 1 0.9636083 0.9939541 0.9233379 NA NA 0.002803909 0.07640897 0.9818041 0.958646 NA 0.03960644 NA FALSE NA 0.999 1.357 . missense_variant MODERATE CC2D2A HGNC 29253 ENST00000503292 4/38 1 deleterious_low_confidence(0.01) benign(0.001) NA GAA A,G 9.259e-06 4:15478765 CC2D2A HGNC Symbol protein_coding 131692 ENSG00000048342 ENSE00003512227 missense_variant 0.47964 0.84505 0.66643 0.516011 0.9814614 0 5.494064e-15 FALSE NA ENSE00001629985_010 ENSE00001629985 010 4 15480299 15480468 + 48 84 38 A C 15480426 582 128 ATGACAATACGCAGACACAGTTTCTTGTCACTTCTTACCTGTGTCTTTCTTGGCTGTCTTCGAACCTTTGAGTTCTTATTCTGTCTTCCCATGTCTGCATCCTCATCATTTTCAATGAACTCCTTTGTGAAAATGCAAAAGGGAGAGAATCTTAAGACAGGAAGAGAGGT 15478674 15478844 15478801 15478802 15478802 exon -5 0.952381 ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGACACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT mutant NA NA NA NA NA 160 91 0.9780766 0.9276358 0.9528562 1 0.9636083 0.9939541 0.9233379 NA NA -0.01587749 0.004297896 0.9818041 0.958646 NA -0.005789795 NA FALSE NA 0.925 1.215 . missense_variant MODERATE CC2D2A HGNC 29253 ENST00000503292 4/38 1 deleterious_low_confidence(0.01) benign(0.354) NA AAA A,C 2.048e-05 4:15478802 CC2D2A HGNC Symbol protein_coding 131692 ENSG00000048342 ENSE00003512227 missense_variant 2.256184 0.37496 0.46795 0.533608 0.9962859 0 5.494064e-15 FALSE 2.60305e-05 ENSE00001629985_012 ENSE00001629985 012 4 15480299 15480468 + 48 84 38 A G 15480446 584 148 ATGACAATACGCAGACACAGTTCCTTGTCACTTCTTACCTGTTTCTTTCTTGGCTGTCTTCGAACCTTTGAGTTCTTATTCTGTCTTCCCATGTCTGCATCCTCATCATTTTCAATGAACTCCTTTGTGAAAATGCAAAAGGGAGAGAATCTTAAGACAGGAAGAGAGGT 15478674 15478844 15478821 15478822 15478822 downstr_intron 16 1.432432 ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGGAACTGTGTCTGCGTATTGTCAT ACCTCTCTTCCTGTCTTAAGATTCTCTCCCTTTTGCATTTTCACAAAGGAGTTCATTGAAAATGATGAGGATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAACAGGTAAGAAGTGACAAGAAACTGTGTCTGCGTATTGTCAT mutant NA NA NA NA NA 198 356 1 0.989153 0.9945765 1 0.9636083 0.9939541 0.9233379 NA NA 0.00604592 0.06581511 0.9818041 0.958646 NA 0.03593052 NA FALSE NA 0.212 0.332 . intron_variant MODIFIER CC2D2A HGNC 29253 ENST00000503292 4/37 1 NA GAA A,G 1.123e-05 4:15478822 CC2D2A HGNC Symbol protein_coding 131692 ENSG00000048342 ENSE00003512227 intron_variant 0.838026 0.21468 0.08532 0.093295 0.7483361 0.0977026 5.494064e-15 FALSE 3.29268e-05 ENSE00001630121_000 ENSE00001630121 000 22 29738244 29738413 - 30 99 41 NA NA NA NA NA TGAGGCCCACACTTCCTCCTCGTCACCGCTGTTCCCTGCAGGTCCAGCTGCAGCTGCTGACAGCCATTGTGAAACTCTTTCTAAAGAAGCCAACAGAGACCCAGGAGCTGGTGCAGCAGGTCCTCAGTTTGGCCACTCAGGTGGGTGCCCCAACCTCCCCGCTGTGCCCA 29342254 29342424 NA NA NA NA NA NA TGAGGCCCACACTTCCTCCTCGTCACCGCTGTTCCCTGCAGGTCCAGCTGCAGCTGCTGACAGCCATTGTGAAACTCTTTCTAAAGAAGCCAACAGAGACCCAGGAGCTGGTGCAGCAGGTCCTCAGTTTGGCCACTCAGGTGGGTGCCCCAACCTCCCCGCTGTGCCCA TGAGGCCCACACTTCCTCCTCGTCACCGCTGTTCCCTGCAGGTCCAGCTGCAGCTGCTGACAGCCATTGTGAAACTCTTTCTAAAGAAGCCAACAGAGACCCAGGAGCTGGTGCAGCAGGTCCTCAGTTTGGCCACTCAGGTGGGTGCCCCAACCTCCCCGCTGTGCCCA natural NA NA NA NA NA 912 323 0.9958226 0.9808792 0.9883509 NA NA 0.9958226 0.9808792 NA NA 0 0 NA 0.9883509 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP1B1 NA NA NA ENSG00000100280 ENSE00001630121 NA NA NA NA NA NA NA 0.9915831 TRUE NA ENSE00001630121_017 ENSE00001630121 017 22 29738244 29738413 - 30 99 41 G A 29738399 434 15 TGAGGCCCACACTTTCTCCTCGTCACCGCTGTTCCCTGCAGGTCCAGCTGCAGCTGCTGACAGCCATTGTGAAACTCTTTCTAAAGAAGCCAACAGAGACCCAGGAGCTGGTGCAGCAGGTCCTCAGTTTGGCCACTCAGGTGGGTGCCCCAACCTCCCCGCTGTGCCCA 29342254 29342424 29342409 29342410 29342410 upstr_intron -27 -0.6341463 TGAGGCCCACACTTTCTCCTCGTCACCGCTGTTCCCTGCAGGTCCAGCTGCAGCTGCTGACAGCCATTGTGAAACTCTTTCTAAAGAAGCCAACAGAGACCCAGGAGCTGGTGCAGCAGGTCCTCAGTTTGGCCACTCAGGTGGGTGCCCCAACCTCCCCGCTGTGCCCA TGAGGCCCACACTTCCTCCTCGTCACCGCTGTTCCCTGCAGGTCCAGCTGCAGCTGCTGACAGCCATTGTGAAACTCTTTCTAAAGAAGCCAACAGAGACCCAGGAGCTGGTGCAGCAGGTCCTCAGTTTGGCCACTCAGGTGGGTGCCCCAACCTCCCCGCTGTGCCCA mutant NA NA NA NA NA 23 66 1 0.9888976 0.9944488 NA NA 0.9958226 0.9808792 NA NA 0.004177424 0.008018411 NA 0.9883509 NA 0.006097917 NA FALSE NA 0 1.214 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:29342410 AP1B1 HGNC Symbol protein_coding 95499 ENSG00000100280 ENSE00001630121 intron_variant 0.302512 0.23642 0.05735 0.106106 0.7131462 0.0944164 0.9915831 TRUE NA ENSE00001630920_000 ENSE00001630920 000 20 23375518 23375687 - 41 78 51 NA NA NA NA NA TCTGCCTGCTTCACATCTGAGGAAGTGTGCCCACTGCTTACCTTCTCAATGTCTACAAGTTCAGTCTCATAGATCTCTGCAATAGTAATGTGGTGCTTGGCTGCAATTGTAAACCTTCCCTAGGGGAAAAAACAAGAAACAGTCACACACCGATTTTACCTATCTGAATG 23394880 23395050 NA NA NA NA NA NA CATTCAGATAGGTAAAATCGGTGTGTGACTGTTTCTTGTTTTTTCCCCTAGGGAAGGTTTACAATTGCAGCCAAGCACCACATTACTATTGCAGAGATCTATGAGACTGAACTTGTAGACATTGAGAAGGTAAGCAGTGGGCACACTTCCTCAGATGTGAAGCAGGCAGA CATTCAGATAGGTAAAATCGGTGTGTGACTGTTTCTTGTTTTTTCCCCTAGGGAAGGTTTACAATTGCAGCCAAGCACCACATTACTATTGCAGAGATCTATGAGACTGAACTTGTAGACATTGAGAAGGTAAGCAGTGGGCACACTTCCTCAGATGTGAAGCAGGCAGA natural NA NA NA NA NA 143 268 0.9684927 0.9781414 0.973317 NA NA 0.9684927 0.9781414 NA NA 0 0 NA 0.973317 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003466421 NA NA NA NA NA NA NA NA NA NA ENSE00001632092_000 ENSE00001632092 000 7 6862888 6863057 - 56 48 66 NA NA NA NA NA CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG 6823256 6823426 NA NA NA NA NA NA CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG natural 491 614 0.8387552 0.808849 0.8238021 2802 2270 0.6783451 0.5467276 0.6125363 0.8387552 0.808849 0.6783451 0.5467276 0 0 0 0 0.8238021 0.6125363 0 0 0 FALSE FALSE NA NA NA NA NA CCZ1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCZ1B NA NA NA ENSG00000146574 ENSE00003575512 NA NA NA NA NA NA NA NA NA NA ENSE00001632092_002 ENSE00001632092 002 7 6862888 6863057 - 56 48 66 G T 6862907 352 151 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACAACTTACCCCTATCTCTAGG 6823256 6823426 6823275 6823276 6823276 downstr_intron 37 1.672727 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACAACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 1974 371 0.8277965 0.8 0.8138982 0.8387552 0.808849 0.6783451 0.5467276 NA NA 0.1494514 0.2532724 0.8238021 0.6125363 NA 0.2013619 NA FALSE NA 0.123 1.198 . downstream_gene_variant MODIFIER CCZ1B HGNC 21717 ENST00000496187 1 NA TGG .,T 0.0001571 7:6823276 CCZ1B HGNC Symbol protein_coding 32636 ENSG00000146574 ENSE00003575512 intron_variant -0.097903 0.1296 0.06685 0.322412 0.6146114 0.0532261 NA NA 0.000261729 ENSE00001632092_004 ENSE00001632092 004 7 6862888 6863057 - 56 48 66 G A 6862933 354 125 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGTGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG 6823256 6823426 6823301 6823302 6823302 downstr_intron 11 1.2 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGTGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 284 428 0.8819871 0.8013498 0.8416685 0.8387552 0.808849 0.6783451 0.5467276 NA NA 0.203642 0.2546223 0.8238021 0.6125363 NA 0.2291321 NA FALSE NA 0 0.908 . downstream_gene_variant MODIFIER CCZ1B HGNC 21717 ENST00000496187 rs374742337 1 NA A:0.0002 A:0.0001 CGC .,A 1.649e-05 7:6823302 CCZ1B HGNC Symbol protein_coding 32636 ENSG00000146574 ENSE00003575512 intron_variant -0.015132 0.10671 0.01251 0.322412 0.2683633 0.0540343 NA NA 1.63488e-05 ENSE00001632092_005 ENSE00001632092 005 7 6862888 6863057 - 56 48 66 C G 6862935 355 123 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTCGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG 6823256 6823426 6823303 6823304 6823304 downstr_intron 9 1.163636 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTCGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 1223 2112 0.8121843 0.9046824 0.8584334 0.8387552 0.808849 0.6783451 0.5467276 NA NA 0.1338392 0.3579548 0.8238021 0.6125363 NA 0.245897 NA FALSE NA 0 0.747 . downstream_gene_variant MODIFIER CCZ1B HGNC 21717 ENST00000496187 rs368840027 1 G:0.0012 G:0.0045 G:0 NA G:0 G:0 G:0 A:0 A:0.0001 CCA .,G 6.598e-05 7:6823304 CCZ1B HGNC Symbol protein_coding 32636 ENSG00000146574 ENSE00003575512 intron_variant -0.094086 0.12224 0.02724 0.322412 0.2058725 0.0540343 NA NA 1.22614e-05 ENSE00001632092_007 ENSE00001632092 007 7 6862888 6863057 - 56 48 66 T C 6862955 357 103 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACGGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG 6823256 6823426 6823323 6823324 6823324 exon -12 0.7708333 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACGGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 155 90 0.9779048 0.8569781 0.9174414 0.8387552 0.808849 0.6783451 0.5467276 NA NA 0.2995596 0.3102505 0.8238021 0.6125363 NA 0.3049051 NA FALSE NA 1 5.377 rs145021569 downstream_gene_variant MODIFIER CCZ1B HGNC 21717 ENST00000496187 rs145021569 1 C:0.0022 C:0.0083 C:0 NA C:0 C:0 C:0 C:0.0087 C:0 CTG .,C 0.0007498 7:6823324 CCZ1B HGNC Symbol protein_coding 32636 ENSG00000146574 ENSE00003575512 missense_variant 0.747859 0.96717 0.95487 0.732398 0.8406645 0 NA NA 0.000559407 ENSE00001632092_008 ENSE00001632092 008 7 6862888 6863057 - 56 48 66 C T 6862965 358 93 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGACAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG 6823256 6823426 6823333 6823334 6823334 exon -22 0.5625 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGACAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 960 462 0.9554527 0.9559164 0.9556845 0.8387552 0.808849 0.6783451 0.5467276 NA NA 0.2771076 0.4091888 0.8238021 0.6125363 NA 0.3431482 NA FALSE NA 0.797 -0.041 . downstream_gene_variant MODIFIER CCZ1B HGNC 21717 ENST00000496187 rs199643615&COSM1091422 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCC .,T 8.239e-06 7:6823334 CCZ1B HGNC Symbol protein_coding 32636 ENSG00000146574 ENSE00003575512 synonymous_variant 1.010114 0.90654 0.37009 0.732398 0.4861207 0 NA NA 4.0856e-06 ENSE00001632092_009 ENSE00001632092 009 7 6862888 6863057 - 56 48 66 C T 6862966 359 92 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCAGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG 6823256 6823426 6823334 6823335 6823335 exon -23 0.5416667 CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCAGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 2273 305 0.005553244 0.004837934 0.005195589 0.8387552 0.808849 0.6783451 0.5467276 NA NA -0.6727919 -0.5418896 0.8238021 0.6125363 NA -0.6073407 NA TRUE NA 1 4.249 rs147596025 downstream_gene_variant MODIFIER CCZ1B HGNC 21717 ENST00000496187 rs147596025 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0035 CCG .,T 0.001689 7:6823335 CCZ1B HGNC Symbol protein_coding 32636 ENSG00000146574 ENSE00003575512 missense_variant 0.738761 0.88178 0.04436 0.732398 0.475551 0 NA NA 0.00181016 ENSE00001632092_010 ENSE00001632092 010 7 6862888 6863057 - 56 48 66 G A 6863029 360 29 CCATCTATCCAGTAGACATTGTTTTTCCTTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG 6823256 6823426 6823397 6823398 6823398 upstr_intron -38 -0.5606061 CCATCTATCCAGTAGACATTGTTTTTCCTTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG mutant NA NA NA NA NA 444 313 0.8618446 0.8267967 0.8443206 0.8387552 0.808849 0.6783451 0.5467276 NA NA 0.1834995 0.2800691 0.8238021 0.6125363 NA 0.2317843 NA FALSE NA 0 0.467 . downstream_gene_variant MODIFIER CCZ1B HGNC 21717 ENST00000496187 rs372059507 1 NA A:0 A:0.0001 AGG .,A 2.471e-05 7:6823398 CCZ1B HGNC Symbol protein_coding 32636 ENSG00000146574 ENSE00003575512 intron_variant 0.143222 0.09922 0.0189 0.162113 0.7470062 0.0533052 NA NA 1.22726e-05 ENSE00001632092_BRK ENSE00001632092 BRK 7 6862888 6863057 - 56 48 66 A,G; T,T NA NA NA CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCTTGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGCCAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG 6823256 6823426 NA NA NA NA NA NA CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCTTGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGCCAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG CCATCTATCCAGTAGACATTGTTTTTCCCTTGAACTGAGCTGTGTGCTGTGTTTTCGCGTCTGCAGGACAAGGTTTATAGCTCGGTGCTGCGGCAGTGCTACAGCATGTACAAGGTAAGCGTGGCGTTCTTTCTCAACTCAGAGTCCAACCACTTACCCCTATCTCTAGG control NA NA NA NA NA 1464 277 0.06459754 0.001156654 0.0328771 0.8387552 0.808849 0.6783451 0.5467276 NA NA -0.6137476 -0.5455709 0.8238021 0.6125363 NA -0.5796592 NA TRUE NA NA NA NA NA NA CCZ1B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCZ1B NA NA NA ENSG00000146574 ENSE00003575512 NA NA NA NA NA NA NA NA NA NA ENSE00001632119_000 ENSE00001632119 000 3 49020281 49020450 + 48 84 38 NA NA NA NA NA CCTGCAATATAGAATCCAAGAGGACAGTAGGCACTTACCCCTCTGTCATAGCTGTCTGCACGCTCCACTTTCCATGAGAGGTTTTCGATCTCAGCCTCCAGCTGAGCCTGCTGGTATTCAAACTGTATAGGCAGAGCAGGAGGGTCAAAAGGTGAGTGGGCTGTGGCTGG 48982847 48983017 NA NA NA NA NA NA CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG natural 37 44 0.9981323 0.9894656 0.9937989 2082 960 0.9287799 0.9941204 0.9614502 0.9981323 0.9894656 0.9287799 0.9941204 0 0 0 0 0.9937989 0.9614502 0 0 0 FALSE FALSE NA NA NA NA NA RP13-131K19.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC137630.2 NA NA NA ENSG00000235236 ENSE00003635096 NA NA NA NA NA NA NA NA NA NA ENSE00001632119_BRK ENSE00001632119 BRK 3 49020281 49020450 + 48 84 38 A,G; T,T NA NA NA CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACTTTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGCCAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG 48982847 48983017 NA NA NA NA NA NA CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACTTTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGCCAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG control 130 78 0 0.04231702 0.02115851 NA NA NA NA NA 0.9981323 0.9894656 0.9287799 0.9941204 -0.9981323 -0.9471485 NA NA 0.9937989 0.9614502 -0.9726404 NA NA NA TRUE NA NA NA NA NA RP13-131K19.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC137630.2 NA NA NA ENSG00000235236 ENSE00003635096 NA NA NA NA NA NA NA NA NA NA ENSE00001632380_000 ENSE00001632380 000 9 116993296 116993465 + 63 54 53 NA NA NA NA NA CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG 114231015 114231185 NA NA NA NA NA NA CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG natural NA NA NA NA NA 93 200 0.9968606 0.9928155 0.9948381 NA NA 0.9968606 0.9928155 NA NA 0 0 NA 0.9948381 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00001632380 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001632380_011 ENSE00001632380 011 9 116993296 116993465 + 63 54 53 C T 116993381 1753 86 CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCTGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG 114231015 114231185 114231100 114231101 114231101 exon 23 0.4259259 CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCTGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG mutant NA NA NA NA NA 192 163 0.9982725 0.9976305 0.9979515 NA NA 0.9968606 0.9928155 NA NA 0.001411911 0.004814982 NA 0.9948381 NA 0.003113447 NA FALSE NA 0.81 1.296 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114231101 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001632380 missense_variant 3.754626 0.91129 0.60111 0.706298 0.9964271 0 0.9999994 TRUE 1.62786e-05 ENSE00001632380_015 ENSE00001632380 015 9 116993296 116993465 + 63 54 53 C T 116993393 1757 98 CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCTGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG 114231015 114231185 114231112 114231113 114231113 exon -20 0.6481481 CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCTGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG mutant NA NA NA NA NA 45 29 1 0.9832775 0.9916388 NA NA 0.9968606 0.9928155 NA NA 0.003139366 -0.009538009 NA 0.9948381 NA -0.003199322 NA FALSE NA 1 3.729 rs147281917 missense_variant&NMD_transcript_variant MODERATE COL27A1 HGNC 22986 ENST00000494090 12/58 rs147281917&COSM3942880 1 deleterious(0) probably_damaging(0.96) NA T:0.0002 T:0.0001 CCG C,T 6.589e-05 9:114231113 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001632380 missense_variant 6.09223 0.94321 0.8278 0.706298 0.9959531 0 0.9999994 TRUE 4.88587e-05 ENSE00001632380_025 ENSE00001632380 025 9 116993296 116993465 + 63 54 53 C T 116993453 1767 158 CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGTTGGGCACCCCCG 114231015 114231185 114231172 114231173 114231173 downstr_intron 41 1.788462 CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGTTGGGCACCCCCG CACCCAGGCCAGCCTCCTGTGGGCCACTGCTCACAGCACCCTCTTCTCTTTCTCTCCCCACAGGGTGACTTAGGAGTGTTGGGTCCGATTGGCTACCCGGGACCCAAGGGCATGAAGGTAAGCAAGGGATGTTCCCCCGATTCAGGCCTTGTCCAAGCTGGGCACCCCCG mutant NA NA NA NA NA 15 62 1 1 1 NA NA 0.9968606 0.9928155 NA NA 0.003139366 0.007184469 NA 0.9948381 NA 0.005161917 NA FALSE NA 0 -0.331 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 12/57 1 NA GCT C,T 8.236e-06 9:114231173 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001632380 intron_variant -0.048491 0.24819 0.1542 0.062308 0.7243809 0.0873401 0.9999994 TRUE 4.09991e-06 ENSE00001632653_000 ENSE00001632653 000 1 86307698 86307867 - 53 54 63 NA NA NA NA NA TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 NA NA NA NA NA NA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA natural 737 892 0.8447763 0.8636519 0.8542141 11515 11919 0.8280008 0.7062197 0.7671102 0.8447763 0.8636519 0.8280008 0.7062197 0 0 0 0 0.8542141 0.7671102 0 0 0 FALSE FALSE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003612727 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001632653_001 ENSE00001632653 001 1 86307698 86307867 - 53 54 63 A G 86307710 2285 158 TTCATGAACTCAGTGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842026 85842027 85842027 downstr_intron 41 1.788462 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACACTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 35 13 0.85 0.85 0.85 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 0.005223694 -0.01365189 NA NA 0.8542141 0.7671102 -0.0042141 NA NA NA FALSE 0 0.659 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 41/57 1 NA AAT A,G 4.14e-05 1:85842027 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 intron_variant 0.051993 0.22391 0.10195 0.162113 0.4965214 0.0431032 1.063411e-25 FALSE 4.0839e-05 ENSE00001632653_002 ENSE00001632653 002 1 86307698 86307867 - 53 54 63 G A 86307724 2286 144 TTCATGAACTCAATGTTTAACTTTAAAATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842040 85842041 85842041 downstr_intron 27 1.519231 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATTTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 160 241 0.85 0.85 0.85 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 0.005223694 -0.01365189 NA NA 0.8542141 0.7671102 -0.0042141 NA NA NA FALSE 0 0.488 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 41/57 1 NA AGA G,A 8.28e-06 1:85842041 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 intron_variant 0.276418 0.21509 0.00354 0.162113 0.4679187 0.0431032 1.063411e-25 FALSE 4.07637e-06 ENSE00001632653_004 ENSE00001632653 004 1 86307698 86307867 - 53 54 63 A C 86307748 2288 120 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACACACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842064 85842065 85842065 downstr_intron 3 1.057692 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTGTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 39 29 0.85 0.85 0.85 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 0.005223694 -0.01365189 NA NA 0.8542141 0.7671102 -0.0042141 NA NA NA FALSE 0 -1.891 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 41/57 1 NA AAA A,C 8.28e-06 1:85842065 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 splice_region_variant 0.053098 0.15439 0.00145 0.162113 0.6216575 0.206234 1.063411e-25 FALSE 4.06689e-06 ENSE00001632653_005 ENSE00001632653 005 1 86307698 86307867 - 53 54 63 C T 86307772 2289 96 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGTAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842088 85842089 85842089 exon -22 0.6111111 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTACCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant NA NA NA NA NA 14 16 0.9191215 0.7674165 0.843269 0.8447763 0.8636519 0.8280008 0.7062197 NA NA 0.09112064 0.06119682 0.8542141 0.7671102 NA 0.07615873 NA FALSE NA 0.401 -0.765 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 41/58 1 NA GCA C,T 8.28e-06 1:85842089 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 synonymous_variant 1.9755 0.95189 0.16207 0.706298 0.7704811 0 1.063411e-25 FALSE 8.13292e-06 ENSE00001632653_006 ENSE00001632653 006 1 86307698 86307867 - 53 54 63 G A 86307783 2290 85 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGATCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842099 85842100 85842100 exon 22 0.4074074 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGATCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 44 74 0.8374412 0.7909166 0.8141789 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 -0.007335065 -0.07273531 NA NA 0.8542141 0.7671102 -0.04003519 NA NA NA FALSE 1 3.928 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 41/58 COSM4010314 1 benign(0.036) NA GGT G,A 8.279e-06 1:85842100 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 missense_variant 2.684983 0.97476 0.83012 0.706298 0.9595769 0 1.063411e-25 FALSE NA ENSE00001632653_007 ENSE00001632653 007 1 86307698 86307867 - 53 54 63 C T 86307786 2291 82 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCTTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842102 85842103 85842103 exon 19 0.3518519 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAAGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant NA NA NA NA NA 25 78 0.8291618 0.8055611 0.8173614 0.8447763 0.8636519 0.8280008 0.7062197 NA NA 0.001160972 0.09934145 0.8542141 0.7671102 NA 0.05025121 NA FALSE NA 1 4.511 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 41/58 1 probably_damaging(1) NA CCT C,T 8.279e-06 1:85842103 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 missense_variant 5.748043 0.98132 0.93247 0.706298 0.9979231 0 1.063411e-25 FALSE 8.13352e-06 ENSE00001632653_008 ENSE00001632653 008 1 86307698 86307867 - 53 54 63 C T 86307794 2292 74 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGTCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842110 85842111 85842111 exon 11 0.2037037 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGACCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant NA NA NA NA NA 17 13 0.7784357 0.7303922 0.754414 0.8447763 0.8636519 0.8280008 0.7062197 NA NA -0.04956508 0.02417255 0.8542141 0.7671102 NA -0.01269627 NA FALSE NA 1 6.297 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 41/58 1 probably_damaging(1) NA GCC C,T 8.279e-06 1:85842111 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 missense_variant 5.458953 0.98923 0.97585 0.706298 0.996304 0 1.063411e-25 FALSE 8.13484e-06 ENSE00001632653_009 ENSE00001632653 009 1 86307698 86307867 - 53 54 63 G C 86307798 2293 70 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTCATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842114 85842115 85842115 exon 7 0.1296296 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATGAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 34 13 0 0 0 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 -0.8447763 -0.8636519 NA NA 0.8542141 0.7671102 -0.8542141 NA NA NA TRUE 0.998 1.143 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 41/58 1 benign(0.009) NA TGA G,C 1.656e-05 1:85842115 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 missense_variant 1.691725 0.97198 0.82506 0.706298 0.943787 0 1.063411e-25 FALSE 1.22019e-05 ENSE00001632653_014 ENSE00001632653 014 1 86307698 86307867 - 53 54 63 A C 86307811 2298 57 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGACAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842127 85842128 85842128 upstr_intron -7 -0.0952381 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTGTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 91 90 0 0 0 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 -0.8447763 -0.8636519 NA NA 0.8542141 0.7671102 -0.8542141 NA NA NA TRUE 0.962 1.068 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 40/57 rs200748464 1 NA AAA A,C 2.484e-05 1:85842128 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 splice_region_variant 0.375471 0.27554 0.75711 0.06567 0.693492 0.291947 1.063411e-25 FALSE 2.03401e-05 ENSE00001632653_015 ENSE00001632653 015 1 86307698 86307867 - 53 54 63 C A 86307824 2299 44 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGAAATTTATACATGCTCTACCTAGATATTAGATATTGCATTATTCT 85842014 85842184 85842140 85842141 85842141 upstr_intron -20 -0.3015873 AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATTTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 80 331 0.85 0.85 0.85 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 0.005223694 -0.01365189 NA NA 0.8542141 0.7671102 -0.0042141 NA NA NA FALSE 0 -0.647 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 40/57 1 NA ACA C,A 8.28e-06 1:85842141 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 intron_variant 0.527861 0.19016 0.00882 0.06567 0.6722208 0.0801229 1.063411e-25 FALSE 8.13954e-06 ENSE00001632653_016 ENSE00001632653 016 1 86307698 86307867 - 53 54 63 C A 86307842 2300 26 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACATAGATATTAGATATTGCATTATTCT 85842014 85842184 85842158 85842159 85842159 upstr_intron -38 -0.5873016 AGAATAATGCAATATCTAATATCTATGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant NA NA NA NA NA 112 118 0.9975125 0.9874769 0.9924947 0.8447763 0.8636519 0.8280008 0.7062197 NA NA 0.1695117 0.2812572 0.8542141 0.7671102 NA 0.2253845 NA FALSE NA 0 -1.248 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 40/57 1 NA CCT C,A 8.279e-06 1:85842159 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 intron_variant 0.0913 0.17884 0.0533 0.06567 0.4970636 0.0436289 1.063411e-25 FALSE 4.07721e-06 ENSE00001632653_017 ENSE00001632653 017 1 86307698 86307867 - 53 54 63 G A 86307845 2301 23 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAAATATTAGATATTGCATTATTCT 85842014 85842184 85842161 85842162 85842162 upstr_intron -41 -0.6349206 AGAATAATGCAATATCTAATATTTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 29 108 0.85 0.85 0.85 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 0.005223694 -0.01365189 NA NA 0.8542141 0.7671102 -0.0042141 NA NA NA FALSE 0 -3.338 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 40/57 rs200392642 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0006 A:0 AGA G,A 4.14e-05 1:85842162 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 intron_variant -0.15455 0.09262 0.00058 0.06567 0.5176197 0.0436289 1.063411e-25 FALSE 1.22557e-05 ENSE00001632653_018 ENSE00001632653 018 1 86307698 86307867 - 53 54 63 A G 86307848 2302 20 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATGTTAGATATTGCATTATTCT 85842014 85842184 85842164 85842165 85842165 upstr_intron -44 -0.6825397 AGAATAATGCAATATCTAACATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 685 579 0.8419565 0.85 0.8459782 32 65 1 0.8 0.9 0.8447763 0.8636519 0.8280008 0.7062197 -0.002819836 -0.01365189 0.1719992 0.09378034 0.8542141 0.7671102 -0.008235865 0.1328898 0.1411256 FALSE FALSE 0.002 -0.192 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 40/57 1 NA TAT A,G 8.279e-06 1:85842165 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 intron_variant -0.159618 0.17875 0.07085 0.06567 0.6044345 0.0436289 1.063411e-25 FALSE 4.08851e-06 ENSE00001632653_019 ENSE00001632653 019 1 86307698 86307867 - 53 54 63 G A 86307852 2303 16 TTCATGAACTCAATGTTTAACTTTAAGATTAAAAAGCCAATATATACACAAACCTTTTCTCCTTTAGGTCCTGGCAATCCAGAGGGTCCTGGTTGGCCCTGATGGCCCTACGAAAGGACAAGTAGACATTTATACATGCTCTACCTAGATATTAAATATTGCATTATTCT 85842014 85842184 85842168 85842169 85842169 upstr_intron -48 -0.7460317 AGAATAATGCAATATTTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA mutant 102 377 0.85 0.85 0.85 NA NA NA NA NA 0.8447763 0.8636519 0.8280008 0.7062197 0.005223694 -0.01365189 NA NA 0.8542141 0.7671102 -0.0042141 NA NA NA FALSE 0 -0.571 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 40/57 1 NA AGA G,A 8.279e-06 1:85842169 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003612727 intron_variant 0.030022 0.19995 0.02359 0.06567 0.6029411 0.0436289 1.063411e-25 FALSE 4.09189e-06 ENSE00001632653_BRK ENSE00001632653 BRK 1 86307698 86307867 - 53 54 63 A,G; T,T NA NA NA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTTTGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGCCTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA 85842014 85842184 NA NA NA NA NA NA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTTTGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGCCTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA AGAATAATGCAATATCTAATATCTAGGTAGAGCATGTATAAATGTCTACTTGTCCTTTCGTAGGGCCATCAGGGCCAACCAGGACCCTCTGGATTGCCAGGACCTAAAGGAGAAAAGGTTTGTGTATATATTGGCTTTTTAATCTTAAAGTTAAACATTGAGTTCATGAA control 172 575 0 0 0 501 2211 0 0.004962027 0.002481014 0.8447763 0.8636519 0.8280008 0.7062197 -0.8447763 -0.8636519 -0.8280008 -0.7012576 0.8542141 0.7671102 -0.8542141 -0.7646292 0.08958488 TRUE TRUE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003612727 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001632875_000 ENSE00001632875 000 9 33926559 33926728 - 56 48 66 NA NA NA NA NA GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 NA NA NA NA NA NA GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC natural 23 43 0.9904135 0.9876155 0.9890145 2756 785 0.9835858 0.96466 0.9741229 0.9904135 0.9876155 0.9835858 0.96466 0 0 0 0 0.9890145 0.9741229 0 0 0 FALSE FALSE NA NA NA NA NA UBAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBAP2 NA NA NA ENSG00000137073 ENSE00003458372 NA NA NA NA NA NA NA 0.9895094 TRUE NA ENSE00001632875_001 ENSE00001632875 001 9 33926559 33926728 - 56 48 66 G A 33926579 283 150 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTTAGAATCTTTTACATGTCCCC 33926560 33926730 33926580 33926581 33926581 downstr_intron 36 1.654545 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTTAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 122 1247 1 1 1 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.03534 0.9890145 0.9741229 NA 0.0258771 NA FALSE NA 0 -0.627 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/8 1 NA TGA G,A 8.236e-06 9:33926581 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant 0.800792 0.16933 0.0673 0.115753 0.7865137 0.0505678 0.9895094 TRUE 1.21869e-05 ENSE00001632875_002 ENSE00001632875 002 9 33926559 33926728 - 56 48 66 A G 33926581 284 148 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGCTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926582 33926583 33926583 downstr_intron 34 1.618182 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGCTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 128 31 1 1 1 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.03534 0.9890145 0.9741229 NA 0.0258771 NA FALSE NA 0 -0.485 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/8 1 NA AAC A,G 8.236e-06 9:33926583 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant 0.72876 0.19398 0.04952 0.115753 0.648204 0.0505678 0.9895094 TRUE 4.06223e-06 ENSE00001632875_004 ENSE00001632875 004 9 33926559 33926728 - 56 48 66 G A 33926593 286 136 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTTGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926594 33926595 33926595 downstr_intron 22 1.4 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTTGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 710 55 1 1 1 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.03534 0.9890145 0.9741229 NA 0.0258771 NA FALSE NA 0 -2.779 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/8 1 NA CGA G,A 4.118e-05 9:33926595 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant -0.146941 0.19865 0.0171 0.256867 0.7403491 0.0497944 0.9895094 TRUE 5.68583e-05 ENSE00001632875_005 ENSE00001632875 005 9 33926559 33926728 - 56 48 66 C G 33926606 287 123 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGCGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926607 33926608 33926608 downstr_intron 9 1.163636 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGCGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 3095 14 0.997972 0.9767108 0.9873414 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.01438618 0.01205076 0.9890145 0.9741229 NA 0.01321847 NA FALSE NA 0 0.108 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/8 1 NA CCC C,G 8.236e-06 9:33926608 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant 0.669956 0.30104 0.10404 0.256867 0.5942283 0.0583523 0.9895094 TRUE 4.06095e-06 ENSE00001632875_007 ENSE00001632875 007 9 33926559 33926728 - 56 48 66 G C 33926623 289 106 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGGTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926624 33926625 33926625 exon -9 0.8333333 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGGTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 61 163 1 0.9860331 0.9930165 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.02137308 0.9890145 0.9741229 NA 0.01889364 NA FALSE NA 1 5.373 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 rs368390826 1 NA C:0.0002 C:0 AGC G,C 8.236e-06 9:33926625 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 missense_variant 4.516898 0.97528 0.96762 0.67177 0.9960442 0 0.9895094 TRUE 8.12203e-06 ENSE00001632875_008 ENSE00001632875 008 9 33926559 33926728 - 56 48 66 C T 33926625 290 104 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACAGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926626 33926627 33926627 exon -11 0.7916667 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACAGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 324 4212 0.9937098 0.9498952 0.9718025 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.01012404 -0.01476482 0.9890145 0.9741229 NA -0.002320388 NA FALSE NA 1 7.437 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 COSM1108390 1 NA CCG C,T 8.236e-06 9:33926627 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 missense_variant 6.692007 0.97389 0.97403 0.67177 0.9988761 0 0.9895094 TRUE 1.62439e-05 ENSE00001632875_010 ENSE00001632875 010 9 33926559 33926728 - 56 48 66 T C 33926627 292 102 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCGCGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926628 33926629 33926629 exon -13 0.75 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCGCGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 417 261 0.9509012 1 0.9754506 0.9904135 0.9876155 0.9835858 0.96466 NA NA -0.03268455 0.03534 0.9890145 0.9741229 NA 0.001327723 NA FALSE NA 0.986 -0.41 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 1 NA GTG T,C 8.236e-06 9:33926629 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 synonymous_variant 0.626722 0.91043 0.51487 0.67177 0.712985 0 0.9895094 TRUE 4.06108e-06 ENSE00001632875_011 ENSE00001632875 011 9 33926559 33926728 - 56 48 66 G A 33926635 293 94 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGTTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926636 33926637 33926637 exon -21 0.5833333 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGTTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 65 124 1 1 1 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.03534 0.9890145 0.9741229 NA 0.0258771 NA FALSE NA 1 9.412 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 1 NA AGC G,A 8.236e-06 9:33926637 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 synonymous_variant 1.334226 0.97475 0.98116 0.67177 0.7549411 0 0.9895094 TRUE 8.12255e-06 ENSE00001632875_012 ENSE00001632875 012 9 33926559 33926728 - 56 48 66 C T 33926639 294 90 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAAATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926640 33926641 33926641 exon 24 0.5 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAAATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 20 132 1 0.9921339 0.9960669 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.0274739 0.9890145 0.9741229 NA 0.02194405 NA FALSE NA 1 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:33926641 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 synonymous_variant 1.338265 0.93092 0.7643 0.67177 0.7332302 0 0.9895094 TRUE 2.43675e-05 ENSE00001632875_013 ENSE00001632875 013 9 33926559 33926728 - 56 48 66 C G 33926639 295 90 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCACATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926640 33926641 33926641 exon 24 0.5 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCACATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 332 466 0.9909869 0.9885316 0.9897592 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.007401066 0.02387157 0.9890145 0.9741229 NA 0.01563632 NA FALSE NA 1 0.413 NA NA NA UBAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBAP2 NA NA NA ENSG00000137073 ENSE00003458372 missense_variant 3.20061 0.9322 0.81385 0.67177 0.9897999 0 0.9895094 TRUE 4.06124e-06 ENSE00001632875_015 ENSE00001632875 015 9 33926559 33926728 - 56 48 66 G A 33926648 297 81 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGATGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926649 33926650 33926650 exon 15 0.3125 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGATGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 223 256 0.9909434 1 0.9954717 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.007357624 0.03534 0.9890145 0.9741229 NA 0.02134881 NA FALSE NA 0.004 -1.252 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 1 NA CGT G,A 8.236e-06 9:33926650 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 synonymous_variant 1.278816 0.89237 0.14329 0.67177 0.5795119 0 0.9895094 TRUE 1.62471e-05 ENSE00001632875_016 ENSE00001632875 016 9 33926559 33926728 - 56 48 66 C T 33926650 298 79 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATAACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926651 33926652 33926652 exon 13 0.2708333 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATAACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 714 101 0.8372241 1 0.9186121 0.9904135 0.9876155 0.9835858 0.96466 NA NA -0.1463617 0.03534 0.9890145 0.9741229 NA -0.05551085 NA FALSE NA 1 7.437 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 rs370299605 1 NA T:0.0005 T:0 TCA C,T 7.413e-05 9:33926652 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 missense_variant 5.820328 0.97429 0.97432 0.67177 0.9981268 0 0.9895094 TRUE 6.49873e-05 ENSE00001632875_017 ENSE00001632875 017 9 33926559 33926728 - 56 48 66 T C 33926652 299 77 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTGTGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926653 33926654 33926654 exon 11 0.2291667 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTGTGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 99 966 0.95 0.9531749 0.9515875 0.9904135 0.9876155 0.9835858 0.96466 NA NA -0.0335858 -0.01148507 0.9890145 0.9741229 NA -0.02253544 NA FALSE NA 1 5.815 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 rs566113875 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATA T,C 8.236e-06 9:33926654 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 missense_variant 4.725431 0.9683 0.96418 0.67177 0.9914999 0 0.9895094 TRUE 4.0618e-06 ENSE00001632875_018 ENSE00001632875 018 9 33926559 33926728 - 56 48 66 C T 33926656 300 73 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATAGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926657 33926658 33926658 exon 7 0.1458333 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATAGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 838 290 0.9947028 0.9970597 0.9958812 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.01111697 0.03239966 0.9890145 0.9741229 NA 0.02175832 NA FALSE NA 1 7.437 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 1 NA CCA C,T 8.236e-06 9:33926658 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 missense_variant 5.826851 0.97429 0.97432 0.67177 0.9946436 0 0.9895094 TRUE 4.06194e-06 ENSE00001632875_019 ENSE00001632875 019 9 33926559 33926728 - 56 48 66 T C 33926658 301 71 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTGTGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926659 33926660 33926660 exon 5 0.1041667 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTGTGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 686 322 0.9966321 1 0.9983161 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0130463 0.03534 0.9890145 0.9741229 NA 0.02419315 NA FALSE NA 1 7.646 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 7/9 1 NA ATA T,C 8.236e-06 9:33926660 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 missense_variant 4.62246 0.9683 0.97268 0.67177 0.9923985 0 0.9895094 TRUE 8.12433e-06 ENSE00001632875_020 ENSE00001632875 020 9 33926559 33926728 - 56 48 66 T C 33926668 302 61 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCGCACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926669 33926670 33926670 upstr_intron -6 -0.07575758 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCGCACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 165 34 0.9752317 1 0.9876158 0.9904135 0.9876155 0.9835858 0.96466 NA NA -0.008354125 0.03534 0.9890145 0.9741229 NA 0.01349294 NA FALSE NA 0 -0.14 rs41312824 splice_region_variant&intron_variant&non_coding_transcript_variant LOW UBAP2 HGNC 14185 ENST00000474372 6/8 rs41312824 1 C:0.0020 C:0 C:0.0043 NA C:0 C:0.007 C:0 C:0.0009 C:0.002 GTG T,C 0.001079 9:33926670 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 splice_region_variant 1.021375 0.24474 0.24071 0.069865 0.7335568 0.351396 0.9895094 TRUE 0.00111729 ENSE00001632875_023 ENSE00001632875 023 9 33926559 33926728 - 56 48 66 A G 33926679 305 50 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTCTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926680 33926681 33926681 upstr_intron -17 -0.2424242 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTCTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 109 451 1 0.9907713 0.9953856 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.02611129 0.9890145 0.9741229 NA 0.02126274 NA FALSE NA 0.012 1.124 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 6/8 rs375029814 1 NA G:0 G:0.0001 AAA A,G 8.236e-06 9:33926681 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant 0.158904 0.27984 0.07306 0.069865 0.718172 0.142326 0.9895094 TRUE NA ENSE00001632875_024 ENSE00001632875 024 9 33926559 33926728 - 56 48 66 G A 33926692 306 37 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTTCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926693 33926694 33926694 upstr_intron -30 -0.4393939 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTTCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 266 103 1 1 1 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.03534 0.9890145 0.9741229 NA 0.0258771 NA FALSE NA 0 0.209 rs2296364 intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 6/8 rs2296364 1 A:0.0146 A:0.0008 A:0 NA A:0.0536 A:0.0149 A:0.0031 A:0.0048 A:0.0209 GGA G,A 0.018 9:33926694 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant 0.622226 0.21542 0.12997 0.069865 0.6952589 0.142326 0.9895094 TRUE 0.0173715 ENSE00001632875_025 ENSE00001632875 025 9 33926559 33926728 - 56 48 66 C A 33926695 307 34 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGTTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926696 33926697 33926697 upstr_intron -33 -0.4848485 GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGTTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 131 123 1 1 1 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.0164142 0.03534 0.9890145 0.9741229 NA 0.0258771 NA FALSE NA 0 0.395 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 6/8 rs570546311 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 ACC C,A 6.589e-05 9:33926697 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant 0.699552 0.23521 0.2528 0.069865 0.7341792 0.237843 0.9895094 TRUE 5.69921e-05 ENSE00001632875_026 ENSE00001632875 026 9 33926559 33926728 - 56 48 66 C T 33926702 308 27 GATGGACCTGGGCTTCCCAGGGTGTGATATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926703 33926704 33926704 upstr_intron -40 -0.5909091 GATGGACCTGGGCTTCCCAGGGTGTGATATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 1092 18 0.9995847 1 0.9997924 0.9904135 0.9876155 0.9835858 0.96466 NA NA 0.01599891 0.03534 0.9890145 0.9741229 NA 0.02566945 NA FALSE NA 0 -0.308 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 6/8 rs539622922 1 T:0.0012 T:0 T:0 NA T:0 T:0 T:0.0061 ACC C,T 0.0003212 9:33926704 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant -0.020244 0.20777 0.05919 0.069865 0.6489081 0.0868384 0.9895094 TRUE 0.000224087 ENSE00001632875_027 ENSE00001632875 027 9 33926559 33926728 - 56 48 66 C G 33926707 309 22 GATGGACCTGGGCTTCCCAGGCTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926708 33926709 33926709 upstr_intron -45 -0.6666667 GATGGACCTGGGCTTCCCAGGCTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 1740 87 0.9709534 0.9981778 0.9845656 0.9904135 0.9876155 0.9835858 0.96466 NA NA -0.01263244 0.03351778 0.9890145 0.9741229 NA 0.01044267 NA FALSE NA 0 -0.059 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 6/8 1 NA ACC C,G 8.236e-06 9:33926709 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant -0.070578 0.27648 0.15948 0.069865 0.3935798 0.0879356 0.9895094 TRUE 4.0786e-06 ENSE00001632875_029 ENSE00001632875 029 9 33926559 33926728 - 56 48 66 G A 33926712 311 17 GATGGACCTGGGCTTCTCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC 33926560 33926730 33926713 33926714 33926714 upstr_intron -50 -0.7424242 GATGGACCTGGGCTTCTCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC GATGGACCTGGGCTTCCCAGGGTGTGGTATGTGGTTCCTAAAATACACTTTCTGGTTCTCACACAGATCTATGGCTATGACGAGCTCCAGATGCTGCAGTCACGGCTGCCAGTGGTGAGTGGGGTATGGACTGGTCGGAGCAGAGGGTTCAGAATCTTTTACATGTCCCC mutant NA NA NA NA NA 142 378 0.9638334 0.9985779 0.9812057 0.9904135 0.9876155 0.9835858 0.96466 NA NA -0.01975241 0.03391791 0.9890145 0.9741229 NA 0.007082752 NA FALSE NA 0.003 0.454 . intron_variant&non_coding_transcript_variant MODIFIER UBAP2 HGNC 14185 ENST00000474372 6/8 1 NA GGG G,A 1.647e-05 9:33926714 UBAP2 HGNC Symbol protein_coding 127256 ENSG00000137073 ENSE00003458372 intron_variant 0.239003 0.26348 0.10349 0.069865 0.3561691 0.069292 0.9895094 TRUE 8.1598e-06 ENSE00001634152_000 ENSE00001634152 000 19 21205551 21205720 + 44 93 33 NA NA NA NA NA GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 NA NA NA NA NA NA GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC natural 232 77 0.872142 0.9844035 0.9282727 1837 2399 0.9702796 0.99453 0.9824048 0.872142 0.9844035 0.9702796 0.99453 0 0 0 0 0.9282727 0.9824048 0 0 0 FALSE FALSE NA NA NA NA NA ZNF430 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF430 NA NA NA ENSG00000118620 ENSE00003471620 NA NA NA NA NA NA NA 0.0001807907 FALSE NA ENSE00001634152_002 ENSE00001634152 002 19 21205551 21205720 + 44 93 33 A T 21205598 1929 48 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGTACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022791 21022792 21022792 exon 4 0.04301075 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGTACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 302 150 0.9494606 1 0.9747303 0.872142 0.9844035 0.9702796 0.99453 NA NA -0.02081894 0.00547002 0.9282727 0.9824048 NA -0.007674461 NA FALSE NA 0.001 0.507 . missense_variant MODERATE ZNF430 HGNC 20808 ENST00000595401 2/4 1 deleterious_low_confidence(0) possibly_damaging(0.461) NA GAA .,T 3.295e-05 19:21022792 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 missense_variant 1.159481 0.09204 0.00802 0.732398 0.9668676 0 0.0001807907 FALSE 2.43675e-05 ENSE00001634152_003 ENSE00001634152 003 19 21205551 21205720 + 44 93 33 G A 21205606 1930 56 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAATCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022799 21022800 21022800 exon 12 0.1290323 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAATCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 46 141 1 0.9764559 0.9882279 0.872142 0.9844035 0.9702796 0.99453 NA NA 0.02972042 -0.01807411 0.9282727 0.9824048 NA 0.005823153 NA FALSE NA 0.005 0.529 . synonymous_variant LOW ZNF430 HGNC 20808 ENST00000595401 2/4 1 NA AGT .,A 8.236e-06 19:21022800 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 synonymous_variant 0.47554 0.09037 0.00842 0.706548 0.5780845 0 0.0001807907 FALSE 4.06085e-06 ENSE00001634152_004 ENSE00001634152 004 19 21205551 21205720 + 44 93 33 T C 21205609 1931 59 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCCGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022802 21022803 21022803 exon 15 0.1612903 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCCGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 244 33 0.9905211 1 0.9952606 0.872142 0.9844035 0.9702796 0.99453 NA NA 0.02024156 0.00547002 0.9282727 0.9824048 NA 0.01285579 NA FALSE NA 0.005 0.449 . synonymous_variant LOW ZNF430 HGNC 20808 ENST00000595401 2/4 rs370425319 1 NA C:0 C:0.0002 CTG .,C 1.647e-05 19:21022803 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 synonymous_variant -0.377929 0.08894 0.00717 0.706548 0.4893658 0 0.0001807907 FALSE 8.12156e-06 ENSE00001634152_005 ENSE00001634152 005 19 21205551 21205720 + 44 93 33 G A 21205615 1932 65 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTATATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022808 21022809 21022809 exon 21 0.2258065 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTATATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 126 205 1 0.9963929 0.9981965 0.872142 0.9844035 0.9702796 0.99453 NA NA 0.02972042 0.001862962 0.9282727 0.9824048 NA 0.01579169 NA FALSE NA 0.009 -0.293 rs148941941 synonymous_variant LOW ZNF430 HGNC 20808 ENST00000595401 2/4 1 NA TGT .,A 1.647e-05 19:21022809 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 synonymous_variant 0.010743 0.08982 0.00565 0.706548 0.634161 0 0.0001807907 FALSE 1.21825e-05 ENSE00001634152_006 ENSE00001634152 006 19 21205551 21205720 + 44 93 33 A G 21205625 1933 75 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCGAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022818 21022819 21022819 exon 31 0.3333333 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCGAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 681 191 1 1 1 0.872142 0.9844035 0.9702796 0.99453 NA NA 0.02972042 0.00547002 0.9282727 0.9824048 NA 0.01759522 NA FALSE NA 0.032 0.507 . missense_variant MODERATE ZNF430 HGNC 20808 ENST00000595401 2/4 1 deleterious_low_confidence(0.03) benign(0.15) NA CAA .,G 8.236e-06 19:21022819 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 missense_variant 1.790248 0.1126 0.01159 0.706548 0.9680216 0 0.0001807907 FALSE 4.06078e-06 ENSE00001634152_007 ENSE00001634152 007 19 21205551 21205720 + 44 93 33 G A 21205628 1934 78 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGAAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022821 21022822 21022822 exon 34 0.3655914 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGAAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 1677 1120 0.9800355 0.9945722 0.9873038 0.872142 0.9844035 0.9702796 0.99453 NA NA 0.009755881 4.220911e-05 0.9282727 0.9824048 NA 0.004899045 NA FALSE NA 0.012 0.529 . missense_variant MODERATE ZNF430 HGNC 20808 ENST00000595401 2/4 COSM3531316 1 tolerated_low_confidence(0.24) benign(0.058) NA GGA .,A 8.236e-06 19:21022822 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 missense_variant 0.628986 0.09106 0.00848 0.706548 0.9061746 0 0.0001807907 FALSE 4.06075e-06 ENSE00001634152_009 ENSE00001634152 009 19 21205551 21205720 + 44 93 33 G A 21205646 1936 96 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTAGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022839 21022840 21022840 exon -42 0.5591398 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTAGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 168 148 0.9503611 0.9541504 0.9522558 0.872142 0.9844035 0.9702796 0.99453 NA NA -0.01991844 -0.04037953 0.9282727 0.9824048 NA -0.03014899 NA FALSE NA 0.002 0.529 rs143182179 missense_variant MODERATE ZNF430 HGNC 20808 ENST00000595401 2/4 1 deleterious_low_confidence(0.02) possibly_damaging(0.587) NA TGG .,A 0.000626 19:21022840 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 missense_variant 0.603819 0.09054 0.008 0.627647 0.9923293 0 0.0001807907 FALSE 0.000471074 ENSE00001634152_011 ENSE00001634152 011 19 21205551 21205720 + 44 93 33 C A 21205654 1938 104 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGAAAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022847 21022848 21022848 exon -34 0.6451613 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGAAAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 78 142 1 1 1 0.872142 0.9844035 0.9702796 0.99453 NA NA 0.02972042 0.00547002 0.9282727 0.9824048 NA 0.01759522 NA FALSE NA 0.001 -1.754 . missense_variant MODERATE ZNF430 HGNC 20808 ENST00000595401 2/4 rs199897701 1 tolerated_low_confidence(1) benign(0.001) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 ACA .,A 8.236e-06 19:21022848 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 missense_variant -1.611664 0.06871 0.0024 0.562547 0.2550665 0 0.0001807907 FALSE 4.06111e-06 ENSE00001634152_012 ENSE00001634152 012 19 21205551 21205720 + 44 93 33 T A 21205660 1939 110 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAAACTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022853 21022854 21022854 exon -28 0.7096774 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAAACTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 70 47 1 1 1 0.872142 0.9844035 0.9702796 0.99453 NA NA 0.02972042 0.00547002 0.9282727 0.9824048 NA 0.01759522 NA FALSE NA 0 0.449 . missense_variant MODERATE ZNF430 HGNC 20808 ENST00000595401 2/4 1 tolerated_low_confidence(0.64) benign(0.002) NA ATC .,A 2.471e-05 19:21022854 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 missense_variant -0.337518 0.11708 0.0099 0.562547 0.5884093 0 0.0001807907 FALSE 2.43661e-05 ENSE00001634152_013 ENSE00001634152 013 19 21205551 21205720 + 44 93 33 T G 21205663 1940 113 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTGCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022856 21022857 21022857 exon -25 0.7419355 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTGCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 454 245 1 1 1 0.872142 0.9844035 0.9702796 0.99453 NA NA 0.02972042 0.00547002 0.9282727 0.9824048 NA 0.01759522 NA FALSE NA 0 -0.381 . synonymous_variant LOW ZNF430 HGNC 20808 ENST00000595401 2/4 1 NA TTC .,G 8.236e-06 19:21022857 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 synonymous_variant -0.239107 0.08203 0.0052 0.562547 0.7526337 0 0.0001807907 FALSE 4.06105e-06 ENSE00001634152_014 ENSE00001634152 014 19 21205551 21205720 + 44 93 33 C T 21205695 1941 145 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCTTTGAGATGTTAAAATTGTCTTCACC 21022744 21022914 21022888 21022889 21022889 downstr_intron 8 1.25 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCTTTGAGATGTTAAAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 980 2308 0.8755616 0.9958127 0.9356872 0.872142 0.9844035 0.9702796 0.99453 NA NA -0.09471794 0.00128272 0.9282727 0.9824048 NA -0.04671761 NA FALSE NA 0.005 0.441 . splice_region_variant&intron_variant LOW ZNF430 HGNC 20808 ENST00000595401 2/3 1 NA CCT .,T 8.236e-06 19:21022889 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 splice_region_variant 0.353535 0.0891 0.00753 0.062308 0.592941 0.051324 0.0001807907 FALSE 4.06421e-06 ENSE00001634152_015 ENSE00001634152 015 19 21205551 21205720 + 44 93 33 A T 21205707 1942 157 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTATAATTGTCTTCACC 21022744 21022914 21022900 21022901 21022901 downstr_intron 20 1.625 GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTATAATTGTCTTCACC GAGTGTCTAGTGGATATCAGCTTCTGGGTTATTTTCTCCCATAGGAGAACCTGAAGTCTGGAGTGTATCCTCTCAAGGAAGCAAGTGGATGCCCTGGGGCTGACAGGAATCTTCTGGTGTACTCTTTTTATGAAAAGGTAACCCCTTGAGATGTTAAAATTGTCTTCACC mutant NA NA NA NA NA 295 2211 0.9330125 0.9991054 0.966059 0.872142 0.9844035 0.9702796 0.99453 NA NA -0.03726704 0.004575455 0.9282727 0.9824048 NA -0.01634579 NA FALSE NA 0 -0.291 . intron_variant MODIFIER ZNF430 HGNC 20808 ENST00000595401 2/3 1 NA AAA .,T 8.236e-06 19:21022901 ZNF430 HGNC Symbol protein_coding 39430 ENSG00000118620 ENSE00003471620 intron_variant -0.220387 0.10186 0.00888 0.062308 0.4883946 0.0518374 0.0001807907 FALSE 4.06765e-05 ENSE00001635067_000 ENSE00001635067 000 16 24817476 24817645 + 51 78 41 NA NA NA NA NA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 NA NA NA NA NA NA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA natural 36 31 0.85 0.85 0.85 1285 651 0.926379 0.9841216 0.9552503 0.85 0.85 0.926379 0.9841216 0 0 0 0 0.85 0.9552503 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003531845 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001635067_017 ENSE00001635067 017 16 24817476 24817645 + 51 78 41 G T 24817569 1404 94 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCTTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806247 24806248 24806248 exon -36 0.5512821 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCTTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 1234 213 0.9844141 0.97361 0.9790121 0.85 0.85 0.926379 0.9841216 NA NA 0.05803514 -0.01051163 0.85 0.9552503 NA 0.02376175 NA FALSE NA 1 3.133 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003531845 missense_variant 4.80873 0.94442 0.91725 0.706548 0.9894083 0 0.994933 TRUE 4.06683e-06 ENSE00001635067_028 ENSE00001635067 028 16 24817476 24817645 + 51 78 41 G T 24817626 1415 151 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCTCAATGCTGTCTTTGTGTTA 24806154 24806324 24806304 24806305 24806305 downstr_intron 22 1.55 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCTCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 23 1155 1 0.9816737 0.9908368 0.85 0.85 0.926379 0.9841216 NA NA 0.07362103 -0.002447967 0.85 0.9552503 NA 0.03558653 NA FALSE NA 0.009 0.977 NA NA NA TNRC6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNRC6A NA NA NA ENSG00000090905 ENSE00003531845 intron_variant 0.134026 0.24019 0.24279 0.099367 0.6386725 0.0950751 0.9999999 TRUE 4.91674e-05 ENSE00001635103_000 ENSE00001635103 000 9 125009761 125009930 - 36 87 47 NA NA NA NA NA ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 NA NA NA NA NA NA GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT natural 29 10 0.999402 1 0.999701 2765 3738 0.8496744 0.8411665 0.8454205 0.999402 1 0.8496744 0.8411665 0 0 0 0 0.999701 0.8454205 0 0 0 FALSE FALSE NA NA NA NA NA RBM18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBM18 NA NA NA ENSG00000119446 ENSE00003687045 NA NA NA NA NA NA NA 0.03800987 FALSE NA ENSE00001635103_001 ENSE00001635103 001 9 125009761 125009930 - 36 87 47 G A 125009773 2303 158 ATGAGGCTTGATATCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247493 122247494 122247494 downstr_intron 24 1.685714 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGATATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 524 442 0.8105489 1 0.9052745 0.999402 1 0.8496744 0.8411665 NA NA -0.03912545 0.1588335 0.999701 0.8454205 NA 0.05985402 NA FALSE NA 0 0.464 . intron_variant&non_coding_transcript_variant MODIFIER RBM18 HGNC 28413 ENST00000483428 5/6 rs200232710 1 NA A:0 A:0.0003 TGT G,A 4.942e-05 9:122247494 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 intron_variant -0.015236 0.16723 0.0409 0.115753 0.5448448 0.046875 0.03800987 FALSE 4.07269e-05 ENSE00001635103_003 ENSE00001635103 003 9 125009761 125009930 - 36 87 47 C T 125009792 2305 139 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGATGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247512 122247513 122247513 downstr_intron 5 1.142857 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACATCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 370 1888 0.8049275 0.852812 0.8288697 0.999402 1 0.8496744 0.8411665 NA NA -0.0447469 0.01164544 0.999701 0.8454205 NA -0.01655073 NA FALSE NA 0.98 3.746 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RBM18 HGNC 28413 ENST00000483428 5/6 rs202092943 1 T:0.0008 T:0 T:0.0043 NA T:0 T:0.001 T:0 T:0 T:0.0005 ACG C,T 0.0006177 9:122247513 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 splice_region_variant 1.439819 0.8745 0.89859 0.115753 0.7176662 0.939657 0.03800987 FALSE 0.000650396 ENSE00001635103_004 ENSE00001635103 004 9 125009761 125009930 - 36 87 47 G A 125009793 2306 138 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACATACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247513 122247514 122247514 downstr_intron 4 1.114286 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTATGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 69 33 0.999402 1 0.999701 0.999402 1 0.8496744 0.8411665 NA NA 0.1497276 0.1588335 0.999701 0.8454205 NA 0.1542806 NA FALSE NA 0.917 0 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RBM18 HGNC 28413 ENST00000483428 5/6 1 NA CGT G,A 8.236e-06 9:122247514 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 splice_region_variant 0.460416 0.59435 0.49672 0.115753 0.6830827 0.193495 0.03800987 FALSE 4.0654e-06 ENSE00001635103_005 ENSE00001635103 005 9 125009761 125009930 - 36 87 47 T C 125009798 2307 133 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCCTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247518 122247519 122247519 exon -2 0.9885057 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAGGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 217 32 0.9768544 0.8834568 0.9301556 0.999402 1 0.8496744 0.8411665 NA NA 0.1271801 0.04229031 0.999701 0.8454205 NA 0.08473518 NA FALSE NA 1 4.641 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW RBM18 HGNC 28413 ENST00000483428 5/7 1 NA CTT T,C 8.236e-06 9:122247519 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 missense_variant 1.663103 0.98255 0.93262 0.722319 0.9842148 0 0.03800987 FALSE 4.06392e-06 ENSE00001635103_006 ENSE00001635103 006 9 125009761 125009930 - 36 87 47 T C 125009804 2308 127 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTCGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247524 122247525 122247525 exon -8 0.9195402 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCGAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 189 142 0.9980237 0.9861605 0.9920921 0.999402 1 0.8496744 0.8411665 NA NA 0.1483493 0.144994 0.999701 0.8454205 NA 0.1466716 NA FALSE NA 1 7.804 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:122247525 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 missense_variant 2.610488 0.99249 0.98955 0.722319 0.9918078 0 0.03800987 FALSE 1.21908e-05 ENSE00001635103_007 ENSE00001635103 007 9 125009761 125009930 - 36 87 47 T A 125009804 2309 127 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTAGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247524 122247525 122247525 exon -8 0.9195402 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCTAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 87 945 1 1 1 0.999402 1 0.8496744 0.8411665 NA NA 0.1503256 0.1588335 0.999701 0.8454205 NA 0.1545795 NA FALSE NA 1 7.804 NA NA NA RBM18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBM18 NA NA NA ENSG00000119446 ENSE00003687045 missense_variant 3.301191 0.99265 0.99085 0.722319 0.9870999 0 0.03800987 FALSE 1.62543e-05 ENSE00001635103_008 ENSE00001635103 008 9 125009761 125009930 - 36 87 47 G C 125009805 2310 126 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTCAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247525 122247526 122247526 exon -9 0.908046 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTGAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 101 307 1 0.9711188 0.9855594 0.999402 1 0.8496744 0.8411665 NA NA 0.1503256 0.1299523 0.999701 0.8454205 NA 0.140139 NA FALSE NA 1 7.586 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBM18 HGNC 28413 ENST00000483428 5/7 COSM1314420 1 NA TGA G,C 8.236e-06 9:122247526 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 missense_variant 1.704469 0.99069 0.98813 0.722319 0.9825206 0 0.03800987 FALSE 4.06365e-06 ENSE00001635103_009 ENSE00001635103 009 9 125009761 125009930 - 36 87 47 G C 125009811 2311 120 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATCTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247531 122247532 122247532 exon -15 0.8390805 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCAGATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 270 116 0.9270803 1 0.9635401 0.999402 1 0.8496744 0.8411665 NA NA 0.07740587 0.1588335 0.999701 0.8454205 NA 0.1181197 NA FALSE NA 1 9.579 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBM18 HGNC 28413 ENST00000483428 5/7 1 NA TGT G,C 4.118e-05 9:122247532 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 missense_variant 2.859254 0.98801 0.99315 0.722319 0.987881 0 0.03800987 FALSE 2.43815e-05 ENSE00001635103_012 ENSE00001635103 012 9 125009761 125009930 - 36 87 47 T C 125009831 2314 100 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCCTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247551 122247552 122247552 exon -35 0.6091954 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAGGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 931 69 1 0.9966205 0.9983103 0.999402 1 0.8496744 0.8411665 NA NA 0.1503256 0.155454 0.999701 0.8454205 NA 0.1528898 NA FALSE NA 1 4.838 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBM18 HGNC 28413 ENST00000483428 5/7 1 NA CTT T,C 2.471e-05 9:122247552 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 missense_variant 2.344346 0.98752 0.96699 0.722319 0.9966868 0 0.03800987 FALSE 2.03153e-05 ENSE00001635103_013 ENSE00001635103 013 9 125009761 125009930 - 36 87 47 C T 125009880 2315 51 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGTTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247600 122247601 122247601 exon 4 0.04597701 GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAACAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 57 114 1 1 1 0.999402 1 0.8496744 0.8411665 NA NA 0.1503256 0.1588335 0.999701 0.8454205 NA 0.1545795 NA FALSE NA 1 7.589 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RBM18 HGNC 28413 ENST00000483428 5/7 1 NA GCT C,T 8.236e-06 9:122247601 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 missense_variant 7.024055 0.99445 0.99052 0.722319 0.9990904 0 0.03800987 FALSE 4.06554e-06 ENSE00001635103_014 ENSE00001635103 014 9 125009761 125009930 - 36 87 47 A G 125009902 2316 29 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAGATGTTAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247622 122247623 122247623 upstr_intron -19 -0.3829787 GTTAAGCATTTCAGTTTTTAACTAACATCTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 15 354 1 0.9952392 0.9976196 0.999402 1 0.8496744 0.8411665 NA NA 0.1503256 0.1540726 0.999701 0.8454205 NA 0.1521991 NA FALSE NA 0 0.053 . intron_variant&non_coding_transcript_variant MODIFIER RBM18 HGNC 28413 ENST00000483428 4/6 1 NA AAA A,G 1.647e-05 9:122247623 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 intron_variant 0.025949 0.23641 0.13181 0.069865 0.7192878 0.0924448 0.03800987 FALSE 1.62934e-05 ENSE00001635103_016 ENSE00001635103 016 9 125009761 125009930 - 36 87 47 T C 125009907 2318 24 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTCAGTTAAAAACTGAAATGCTTAAC 122247481 122247651 122247627 122247628 122247628 upstr_intron -24 -0.4893617 GTTAAGCATTTCAGTTTTTAACTGACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 88 78 0.8396052 1 0.9198026 0.999402 1 0.8496744 0.8411665 NA NA -0.01006924 0.1588335 0.999701 0.8454205 NA 0.07438212 NA FALSE NA 0.023 -0.146 . intron_variant&non_coding_transcript_variant MODIFIER RBM18 HGNC 28413 ENST00000483428 4/6 1 NA TTA T,C 8.236e-06 9:122247628 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 intron_variant 0.402306 0.2348 0.01521 0.069865 0.8406339 0.144285 0.03800987 FALSE 4.07624e-06 ENSE00001635103_017 ENSE00001635103 017 9 125009761 125009930 - 36 87 47 T C 125009911 2319 20 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTCAAAAACTGAAATGCTTAAC 122247481 122247651 122247631 122247632 122247632 upstr_intron -28 -0.5744681 GTTAAGCATTTCAGTTTTTGACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 142 877 0.9967465 0.9975323 0.9971394 0.999402 1 0.8496744 0.8411665 NA NA 0.1470721 0.1563658 0.999701 0.8454205 NA 0.1517189 NA FALSE NA 0.002 -0.063 . intron_variant&non_coding_transcript_variant MODIFIER RBM18 HGNC 28413 ENST00000483428 4/6 rs369301073 1 NA C:0.0002 C:0 TTA T,C 8.236e-06 9:122247632 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 intron_variant 0.097511 0.21394 0.0148 0.069865 0.73433 0.142442 0.03800987 FALSE 8.16486e-06 ENSE00001635103_019 ENSE00001635103 019 9 125009761 125009930 - 36 87 47 G C 125009919 2321 12 ATGAGGCTTGATGTCTTTCTAGCCTCTCAGACGTACCTTTACTTGAGCATGTGCCCATCGCACCACCAGCTTCTTGGACAGGGCCAACTTGCCATTGAGACACTGGATGGCTTGCTCTGCTTCCTGTCCAGGAAAGGGACAAATGTTAGTTAAAAACTCAAATGCTTAAC 122247481 122247651 122247639 122247640 122247640 upstr_intron -36 -0.7446809 GTTAAGCATTTGAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT GTTAAGCATTTCAGTTTTTAACTAACATTTGTCCCTTTCCTGGACAGGAAGCAGAGCAAGCCATCCAGTGTCTCAATGGCAAGTTGGCCCTGTCCAAGAAGCTGGTGGTGCGATGGGCACATGCTCAAGTAAAGGTACGTCTGAGAGGCTAGAAAGACATCAAGCCTCAT mutant NA NA NA NA NA 760 327 0.9992394 1 0.9996197 0.999402 1 0.8496744 0.8411665 NA NA 0.149565 0.1588335 0.999701 0.8454205 NA 0.1541993 NA FALSE NA 0 -0.196 NA NA NA RBM18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:122247640 RBM18 HGNC Symbol protein_coding 27215 ENSG00000119446 ENSE00003687045 intron_variant -0.308545 0.0905 0.00557 0.069865 0.5324631 0.14162 0.03800987 FALSE 4.10189e-06 ENSE00001635327_000 ENSE00001635327 000 16 5145405 5145574 - 48 63 59 NA NA NA NA NA GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 NA NA NA NA NA NA GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT natural 195 148 0.9863974 0.9731335 0.9797654 3605 5582 0.932 0.9525105 0.9422553 0.9863974 0.9731335 0.932 0.9525105 0 0 0 0 0.9797654 0.9422553 0 0 0 FALSE FALSE NA NA NA NA NA FAM86A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EEF2KMT NA NA NA ENSG00000118894 ENSE00003511143 NA NA NA NA NA NA NA NA NA NA ENSE00001635327_001 ENSE00001635327 001 16 5145405 5145574 - 48 63 59 C G 5145417 635 158 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTCCCTCCTGAATCT 5095403 5095573 5095415 5095416 5095416 downstr_intron 36 1.765957 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTCCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 111 21 1 1 1 86 369 0.8879349 0.9939517 0.9409433 0.9863974 0.9731335 0.932 0.9525105 0.01360265 0.02686649 -0.0440651 0.04144113 0.9797654 0.9422553 0.02023457 -0.001311984 0.02154655 FALSE FALSE 0.001 0.063 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA GCA C,G 8.242e-06 16:5095416 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 synonymous_variant -0.078229 0.35636 0.1342 0.615465 0.7624029 0 NA NA 4.08851e-06 ENSE00001635327_002 ENSE00001635327 002 16 5145405 5145574 - 48 63 59 T G 5145425 636 150 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCCTGACCCTGCCTCCTGAATCT 5095403 5095573 5095423 5095424 5095424 downstr_intron 28 1.595745 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCCTGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 811 1828 0.9962463 0.9907934 0.9935198 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06424628 0.03828287 0.9797654 0.9422553 NA 0.05126457 NA FALSE NA 0 -0.072 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA ATG T,G 8.24e-06 16:5095424 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 missense_variant 0.157002 0.44183 0.03237 0.706298 0.6674728 0 NA NA 4.08303e-06 ENSE00001635327_003 ENSE00001635327 003 16 5145405 5145574 - 48 63 59 C G 5145438 637 137 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGACTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095436 5095437 5095437 downstr_intron 15 1.319149 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGACTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 198 131 1 0.984718 0.992359 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06800001 0.03220752 0.9797654 0.9422553 NA 0.05010376 NA FALSE NA 0 -0.365 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs371818567 1 NA G:0.0005 G:0 ACT C,G 2.471e-05 16:5095437 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 missense_variant 0.217967 0.28092 0.06284 0.706298 0.6472523 0 NA NA 2.03897e-05 ENSE00001635327_004 ENSE00001635327 004 16 5145405 5145574 - 48 63 59 C A 5145440 638 135 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCATAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095438 5095439 5095439 downstr_intron 13 1.276596 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCATAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 369 395 0.8097903 1 0.9048952 0.9863974 0.9731335 0.932 0.9525105 NA NA -0.1222097 0.04748947 0.9797654 0.9422553 NA -0.03736009 NA FALSE NA 0.009 0.856 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA TCT C,A 8.238e-06 16:5095439 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 stop_gained 0.373986 0.28695 0.09062 0.706298 0.6869979 0 NA NA 4.0776e-06 ENSE00001635327_005 ENSE00001635327 005 16 5145405 5145574 - 48 63 59 G C 5145444 639 131 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATGCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095442 5095443 5095443 downstr_intron 9 1.191489 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATGCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 2252 546 0.8124561 0.9963824 0.9044193 0.9863974 0.9731335 0.932 0.9525105 NA NA -0.1195439 0.04387186 0.9797654 0.9422553 NA -0.037836 NA FALSE NA 0 0.599 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA GGA G,C 8.237e-06 16:5095443 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 missense_variant -0.126541 0.31571 0.1537 0.706298 0.6593906 0 NA NA 4.07544e-06 ENSE00001635327_006 ENSE00001635327 006 16 5145405 5145574 - 48 63 59 T C 5145466 640 109 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGGTATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095464 5095465 5095465 exon -14 0.7936508 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGGTATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 418 555 1 0.9186544 0.9593272 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06800001 -0.03385612 0.9797654 0.9422553 NA 0.01707194 NA FALSE NA 1 1.187 . missense_variant MODERATE FAM86A HGNC 32221 ENST00000587133 2/6 rs371812270 1 deleterious(0.04) benign(0.234) C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 ATC T,C 0.0002306 16:5095465 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 missense_variant 1.804247 0.91176 0.63573 0.706298 0.9708642 0 NA NA 0.000183249 ENSE00001635327_007 ENSE00001635327 007 16 5145405 5145574 - 48 63 59 C T 5145469 641 106 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCAGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095467 5095468 5095468 exon -17 0.7460317 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCAGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 395 486 1 1 1 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06800001 0.04748947 0.9797654 0.9422553 NA 0.05774474 NA FALSE NA 1 0.982 . missense_variant MODERATE FAM86A HGNC 32221 ENST00000587133 2/6 1 tolerated(0.31) benign(0.011) NA CCG C,T 2.471e-05 16:5095468 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 missense_variant 1.270309 0.91919 0.37306 0.706298 0.55687 0 NA NA 1.62888e-05 ENSE00001635327_008 ENSE00001635327 008 16 5145405 5145574 - 48 63 59 G A 5145470 642 105 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGTGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095468 5095469 5095469 exon -18 0.7301587 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGTGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 878 350 1 1 1 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06800001 0.04748947 0.9797654 0.9422553 NA 0.05774474 NA FALSE NA 1 1.23 rs143508087 missense_variant MODERATE FAM86A HGNC 32221 ENST00000587133 2/6 COSM281021 1 tolerated(0.18) possibly_damaging(0.799) NA CGC G,A 2.471e-05 16:5095469 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 missense_variant 2.879368 0.92571 0.64293 0.706298 0.9557261 0 NA NA 8.14279e-06 ENSE00001635327_009 ENSE00001635327 009 16 5145405 5145574 - 48 63 59 G C 5145473 643 102 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGGTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095471 5095472 5095472 exon -21 0.6825397 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGGTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 23 19 1 1 1 46 2244 1 0.9981064 0.9990532 0.9863974 0.9731335 0.932 0.9525105 0.01360265 0.02686649 0.06800001 0.04559589 0.9797654 0.9422553 0.02023457 0.05679795 0.03656338 FALSE FALSE 1 2.521 rs147997807 missense_variant MODERATE FAM86A HGNC 32221 ENST00000587133 2/6 rs147997807&COSM971369 1 deleterious(0.02) probably_damaging(0.998) NA AGC G,C 0.0001483 16:5095472 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 missense_variant 2.599752 0.94026 0.7872 0.706298 0.9911214 0 NA NA 0.000105849 ENSE00001635327_010 ENSE00001635327 010 16 5145405 5145574 - 48 63 59 C T 5145474 644 101 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTACTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095472 5095473 5095473 exon -22 0.6666667 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTACTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 36 47 1 1 1 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06800001 0.04748947 0.9797654 0.9422553 NA 0.05774474 NA FALSE NA 1 0.594 rs7192650 synonymous_variant LOW FAM86A HGNC 32221 ENST00000587133 2/6 1 NA GCA C,T 0.152 16:5095473 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 synonymous_variant 0.76449 0.95414 0.68424 0.706298 0.6174777 0 NA NA 0.160425 ENSE00001635327_011 ENSE00001635327 011 16 5145405 5145574 - 48 63 59 G A 5145476 645 99 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGTTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095474 5095475 5095475 exon -24 0.6349206 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGTTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 52 85 0.9409955 0.9667672 0.9538813 NA NA NA NA NA 0.9863974 0.9731335 0.932 0.9525105 -0.04540183 -0.006366349 NA NA 0.9797654 0.9422553 -0.02588409 NA NA NA FALSE 0.992 1.259 . synonymous_variant LOW FAM86A HGNC 32221 ENST00000587133 2/6 rs375081296 1 NA A:0 A:0.0001 AGC G,A 8.237e-06 16:5095475 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 synonymous_variant 0.295482 0.93713 0.63208 0.706298 0.5904481 0 NA NA NA ENSE00001635327_013 ENSE00001635327 013 16 5145405 5145574 - 48 63 59 T C 5145486 647 89 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCGGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095484 5095485 5095485 exon 30 0.4761905 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCGGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 527 633 0.9945327 0.9985439 0.9965383 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06253268 0.04603338 0.9797654 0.9422553 NA 0.05428303 NA FALSE NA 0 -0.858 . synonymous_variant LOW FAM86A HGNC 32221 ENST00000587133 2/6 1 NA CTG T,C 8.237e-06 16:5095485 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 synonymous_variant -0.480204 0.19769 0.02103 0.706298 0.475714 0 NA NA 4.0712e-06 ENSE00001635327_014 ENSE00001635327 014 16 5145405 5145574 - 48 63 59 G C 5145487 648 88 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATGAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095485 5095486 5095486 exon 29 0.4603175 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATGAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 10 24 1 1 1 NA NA NA NA NA 0.9863974 0.9731335 0.932 0.9525105 0.01360265 0.02686649 NA NA 0.9797654 0.9422553 0.02023457 NA NA NA FALSE 0.012 1.683 . stop_gained HIGH FAM86A HGNC 32221 ENST00000587133 2/6 1 NA HC TGA G,C 8.237e-06 16:5095486 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 stop_gained 7.163113 0.26488 0.16759 0.706298 0.9820446 0 NA NA 8.1406e-06 ENSE00001635327_015 ENSE00001635327 015 16 5145405 5145574 - 48 63 59 A C 5145499 649 76 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTGAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095497 5095498 5095498 exon 17 0.2698413 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTGAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 141 25 0.8655404 0.9936205 0.9295805 0.9863974 0.9731335 0.932 0.9525105 NA NA -0.0664596 0.04111002 0.9797654 0.9422553 NA -0.01267479 NA FALSE NA 0.999 4.697 . stop_gained HIGH FAM86A HGNC 32221 ENST00000587133 2/6 1 NA HC TAA A,C 8.237e-06 16:5095498 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 stop_gained 8.742185 0.4707 0.80788 0.634777 0.9772485 0 NA NA 4.06891e-06 ENSE00001635327_016 ENSE00001635327 016 16 5145405 5145574 - 48 63 59 T C 5145504 650 71 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCGAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095502 5095503 5095503 exon 12 0.1904762 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCGAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 18 24 0.9728797 1 0.9864399 175 726 0.9917199 0.9989978 0.9953588 0.9863974 0.9731335 0.932 0.9525105 -0.01351761 0.02686649 0.05971988 0.04648724 0.9797654 0.9422553 0.006674444 0.05310356 0.04642912 FALSE FALSE 0.999 0.194 . synonymous_variant LOW FAM86A HGNC 32221 ENST00000587133 2/6 rs558193081 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTG T,C 2.471e-05 16:5095503 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 synonymous_variant -1.110012 0.81702 0.08484 0.634777 0.3870037 0 NA NA 2.84733e-05 ENSE00001635327_017 ENSE00001635327 017 16 5145405 5145574 - 48 63 59 G C 5145505 651 70 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGGAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095503 5095504 5095504 exon 11 0.1746032 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGGAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 812 986 1 0.9998009 0.9999005 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06800001 0.04729039 0.9797654 0.9422553 NA 0.0576452 NA FALSE NA 1 2.526 . missense_variant MODERATE FAM86A HGNC 32221 ENST00000587133 2/6 rs578037243 1 tolerated(0.2) benign(0.279) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TGC G,C 8.236e-06 16:5095504 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 missense_variant 0.59853 0.91904 0.53973 0.634777 0.9687612 0 NA NA 4.06729e-06 ENSE00001635327_019 ENSE00001635327 019 16 5145405 5145574 - 48 63 59 T C 5145517 653 58 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACGGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095515 5095516 5095516 upstr_intron -2 -0.01694915 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACGGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 11 42 0 0 0 86 1747 0.005721172 0.01284969 0.009285432 0.9863974 0.9731335 0.932 0.9525105 -0.9863974 -0.9731335 -0.9262788 -0.9396608 0.9797654 0.9422553 -0.9797654 -0.9329698 0.0467956 TRUE TRUE 0.991 4.026 . splice_acceptor_variant HIGH FAM86A HGNC 32221 ENST00000587133 1/5 rs377539094 1 NA C:0.0002 C:0 HC CTG T,C 8.236e-06 16:5095516 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 splice_acceptor_variant 3.245375 0.9289 0.85881 0.060467 0.9850482 0.817477 NA NA 4.06679e-06 ENSE00001635327_020 ENSE00001635327 020 16 5145405 5145574 - 48 63 59 G A 5145520 654 55 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCATACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095518 5095519 5095519 upstr_intron -5 -0.06779661 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCATACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 14 212 1 1 1 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06800001 0.04748947 0.9797654 0.9422553 NA 0.05774474 NA FALSE NA 0.07 -0.092 . splice_region_variant&intron_variant LOW FAM86A HGNC 32221 ENST00000587133 1/5 1 NA TGT G,A 1.647e-05 16:5095519 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 splice_region_variant 0.40736 0.24889 0.05208 0.060467 0.6752119 0.260461 NA NA 2.84671e-05 ENSE00001635327_022 ENSE00001635327 022 16 5145405 5145574 - 48 63 59 A G 5145531 656 44 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCCTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095529 5095530 5095530 upstr_intron -16 -0.2542373 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCCTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 21 253 1 0.9970898 0.9985449 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06800001 0.04457926 0.9797654 0.9422553 NA 0.05628963 NA FALSE NA 0 0.311 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 1/5 1 NA AAG A,G 3.295e-05 16:5095530 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 intron_variant 1.353302 0.22514 0.02705 0.078448 0.786893 0.165389 NA NA 4.06659e-05 ENSE00001635327_024 ENSE00001635327 024 16 5145405 5145574 - 48 63 59 G C 5145536 658 39 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTGTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095534 5095535 5095535 upstr_intron -21 -0.3389831 GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTGTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 227 82 0.9910343 0.8826712 0.9368528 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.0590343 -0.0698393 0.9797654 0.9422553 NA -0.005402501 NA FALSE NA 0 -0.146 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 1/5 1 NA AGA G,C 8.236e-06 16:5095535 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 intron_variant 1.009967 0.24542 0.08652 0.078448 0.6937906 0.165389 NA NA 8.13319e-06 ENSE00001635327_025 ENSE00001635327 025 16 5145405 5145574 - 48 63 59 G C 5145546 659 29 GCGTGTTTAATGTTCCTGTGAATGCGCCGTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095544 5095545 5095545 upstr_intron -31 -0.5084746 GCGTGTTTAATGTTCCTGTGAATGCGCCGTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 2001 422 0.9386358 1 0.9693179 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.006635781 0.04748947 0.9797654 0.9422553 NA 0.02706263 NA FALSE NA 0.042 1.184 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 1/5 1 NA AGG G,C 8.236e-06 16:5095545 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 intron_variant -0.08747 0.2832 0.19993 0.078448 0.5930655 0.167679 NA NA 4.06683e-06 ENSE00001635327_026 ENSE00001635327 026 16 5145405 5145574 - 48 63 59 T C 5145554 660 21 GCGTGTTTAATGTTCCTGTGGATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095552 5095553 5095553 upstr_intron -39 -0.6440678 GCGTGTTTAATGTTCCTGTGGATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 492 1897 0.998823 0.9968186 0.9978208 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.06682306 0.04430811 0.9797654 0.9422553 NA 0.05556558 NA FALSE NA 0.009 1.116 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 1/5 1 NA TTC T,C 8.236e-06 16:5095553 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 intron_variant 0.108134 0.25328 0.03687 0.078448 0.583508 0.167679 NA NA NA ENSE00001635327_027 ENSE00001635327 027 16 5145405 5145574 - 48 63 59 A G 5145558 661 17 GCGTGTTTAATGTTCCCGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095556 5095557 5095557 upstr_intron -43 -0.7118644 GCGTGTTTAATGTTCCCGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 21 18 1 1 1 313 389 1 0.9941086 0.9970543 0.9863974 0.9731335 0.932 0.9525105 0.01360265 0.02686649 0.06800001 0.04159806 0.9797654 0.9422553 0.02023457 0.05479903 0.03456446 FALSE FALSE 0.044 0.141 rs149678667 intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 1/5 rs149678667 1 G:0.0070 G:0 G:0 NA G:0.0327 G:0 G:0.002 CAG A,G 0.002858 16:5095557 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 intron_variant -0.483705 0.20956 0.03147 0.078448 0.3976996 0.167679 NA NA 0.00270563 ENSE00001635327_028 ENSE00001635327 028 16 5145405 5145574 - 48 63 59 G C 5145559 662 16 GCGTGTTTAATGTTCGTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095557 5095558 5095558 upstr_intron -44 -0.7288136 GCGTGTTTAATGTTCGTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 138 1310 0.9911941 1 0.9955971 0.9863974 0.9731335 0.932 0.9525105 NA NA 0.05919415 0.04748947 0.9797654 0.9422553 NA 0.05334181 NA FALSE NA 0.22 0.809 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 1/5 1 NA AGG G,C 8.236e-06 16:5095558 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 intron_variant -0.155921 0.25889 0.21493 0.078448 0.4724957 0.167679 NA NA 1.62741e-05 ENSE00001635327_029 ENSE00001635327 029 16 5145405 5145574 - 48 63 59 A T 5145562 663 13 GCGTGTTTAATGATCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 5095403 5095573 5095560 5095561 5095561 upstr_intron -47 -0.779661 GCGTGTTTAATGATCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCGCCCTTGAGATTTCTCTCTTTCCCCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCACAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 980 718 0.8457941 0.9598269 0.9028105 0.9863974 0.9731335 0.932 0.9525105 NA NA -0.08620588 0.007316362 0.9797654 0.9422553 NA -0.03944476 NA FALSE NA 0.345 1.193 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 1/5 1 NA AAC A,T 8.237e-06 16:5095561 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003511143 intron_variant 0.066878 0.38261 0.291 0.078448 0.7635568 0.167679 NA NA 4.06924e-06 ENSE00001636485_000 ENSE00001636485 000 3 48643167 48643336 - 36 87 47 NA NA NA NA NA CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 NA NA NA NA NA NA CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG natural 37 49 0.8350422 0.85 0.8425211 2356 924 0.9363875 0.810084 0.8732358 0.8350422 0.85 0.9363875 0.810084 0 0 0 0 0.8425211 0.8732358 0 0 0 FALSE FALSE NA NA NA NA NA UQCRC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UQCRC1 NA NA NA ENSG00000010256 ENSE00003598610 NA NA NA NA NA NA NA 0.1324671 FALSE NA ENSE00001636485_004 ENSE00001636485 004 3 48643167 48643336 - 36 87 47 C T 48643211 1017 126 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGACTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605777 48605778 48605778 exon -9 0.908046 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGACTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 1364 587 0.9549446 0.9447762 0.9498604 0.8350422 0.85 0.9363875 0.810084 NA NA 0.01855712 0.1346923 0.8425211 0.8732358 NA 0.07662469 NA FALSE NA 1 7.79 . upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 1 NA GCC C,T 8.236e-06 3:48605778 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 stop_gained 7.278093 0.97325 0.97361 0.719381 0.9875187 0 0.1324671 FALSE 4.07704e-06 ENSE00001636485_006 ENSE00001636485 006 3 48643167 48643336 - 36 87 47 T C 48643216 1019 121 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCGTCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605782 48605783 48605783 exon -14 0.8505747 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCGTCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 2151 344 0.7925809 0.9634837 0.8780323 0.8350422 0.85 0.9363875 0.810084 NA NA -0.1438066 0.1533997 0.8425211 0.8732358 NA 0.004796578 NA FALSE NA 1 8.011 rs75795944 upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 rs75795944 1 NA ATG T,C 8.236e-06 3:48605783 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 missense_variant 5.602231 0.96667 0.97175 0.719381 0.9967208 0 0.1324671 FALSE NA ENSE00001636485_007 ENSE00001636485 007 3 48643167 48643336 - 36 87 47 C G 48643218 1020 119 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGACCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605784 48605785 48605785 exon -16 0.8275862 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGACCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 300 16 0.9787403 1 0.9893702 0.8350422 0.85 0.9363875 0.810084 NA NA 0.0423528 0.189916 0.8425211 0.8732358 NA 0.1161344 NA FALSE NA 0.937 0.108 . upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 rs370404470&COSM1045890 1 NA G:0 G:0.0001 GCT C,G 8.236e-06 3:48605785 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 missense_variant 6.156226 0.93404 0.8548 0.719381 0.998264 0 0.1324671 FALSE 4.07475e-06 ENSE00001636485_008 ENSE00001636485 008 3 48643167 48643336 - 36 87 47 C G 48643221 1021 116 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTCGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605787 48605788 48605788 exon -19 0.7931034 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTCGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 75 11 0.9462695 0.8 0.8731348 0.8350422 0.85 0.9363875 0.810084 NA NA 0.009882032 -0.01008399 0.8425211 0.8732358 NA -0.0001009795 NA FALSE NA 1 2.699 . upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 1 NA CCA C,G 8.236e-06 3:48605788 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 missense_variant 5.805316 0.95313 0.93368 0.719381 0.9961126 0 0.1324671 FALSE NA ENSE00001636485_012 ENSE00001636485 012 3 48643167 48643336 - 36 87 47 C T 48643235 1025 102 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGACAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605801 48605802 48605802 exon -33 0.6321839 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGACAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 76 274 0.9972607 0.999861 0.9985608 0.8350422 0.85 0.9363875 0.810084 NA NA 0.06087315 0.189777 0.8425211 0.8732358 NA 0.1253251 NA FALSE NA 0.531 1.557 NA NA NA UQCRC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:48605802 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 missense_variant 2.349331 0.9398 0.84171 0.719381 0.8814223 0 0.1324671 FALSE 4.87991e-05 ENSE00001636485_013 ENSE00001636485 013 3 48643167 48643336 - 36 87 47 A C 48643239 1026 98 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAAGGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605805 48605806 48605806 exon -37 0.5862069 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAAGGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 69 375 0.8 0.7946829 0.7973415 0.8350422 0.85 0.9363875 0.810084 NA NA -0.1363875 -0.01540105 0.8425211 0.8732358 NA -0.07589428 NA FALSE NA 0.171 -0.065 . upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 rs577470436 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CAT A,C 8.236e-06 3:48605806 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 missense_variant 5.414307 0.91173 0.68597 0.719381 0.9976594 0 0.1324671 FALSE 4.06577e-06 ENSE00001636485_014 ENSE00001636485 014 3 48643167 48643336 - 36 87 47 C T 48643261 1027 76 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCATTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605827 48605828 48605828 exon 29 0.3333333 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCATTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 501 102 0.8066188 0.801416 0.8040174 0.8350422 0.85 0.9363875 0.810084 NA NA -0.1297687 -0.008667977 0.8425211 0.8732358 NA -0.06921833 NA FALSE NA 1 7.79 . upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 1 NA ACG C,T 8.236e-06 3:48605828 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 missense_variant 7.884723 0.97325 0.97361 0.719381 0.9992805 0 0.1324671 FALSE 8.13345e-06 ENSE00001636485_018 ENSE00001636485 018 3 48643167 48643336 - 36 87 47 G C 48643298 1031 39 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTGTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605864 48605865 48605865 upstr_intron -9 -0.1702128 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTGTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 24 97 0.8 0.8 0.8 0.8350422 0.85 0.9363875 0.810084 NA NA -0.1363875 -0.01008399 0.8425211 0.8732358 NA -0.07323575 NA FALSE NA 0.132 0.55 . upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 1 NA AGA G,C 2.471e-05 3:48605865 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 intron_variant 0.326896 0.92236 0.42377 0.093477 0.6010851 0.332705 0.1324671 FALSE 3.26605e-05 ENSE00001636485_019 ENSE00001636485 019 3 48643167 48643336 - 36 87 47 C G 48643302 1032 35 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGCCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605868 48605869 48605869 upstr_intron -13 -0.2553191 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGCCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 123 470 0.9955676 1 0.9977838 0.8350422 0.85 0.9363875 0.810084 NA NA 0.05918007 0.189916 0.8425211 0.8732358 NA 0.124548 NA FALSE NA 0 -1.349 . upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 1 NA GCC C,G 2.471e-05 3:48605869 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 intron_variant 0.388506 0.2134 0.0778 0.093477 0.6399282 0.132069 0.1324671 FALSE 3.67515e-05 ENSE00001636485_020 ENSE00001636485 020 3 48643167 48643336 - 36 87 47 C T 48643305 1033 32 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGATGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG 48605733 48605903 48605871 48605872 48605872 upstr_intron -16 -0.3191489 CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGATGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG CTGGGGAGTGGTTTGTTTGTAACCTTTTCTGGTGGCTTCTTGACCAGGTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGTGAGGCTCTTAAAGTCTGTCTCCTCTGGGCTTAGG mutant NA NA NA NA NA 300 247 0.9997253 1 0.9998627 0.8350422 0.85 0.9363875 0.810084 NA NA 0.06333781 0.189916 0.8425211 0.8732358 NA 0.1266269 NA FALSE NA 0 -0.337 . upstream_gene_variant MODIFIER UQCRC1 HGNC 12585 ENST00000460105 1 NA ACC C,T 8.236e-06 3:48605872 UQCRC1 HGNC Symbol protein_coding 11974 ENSG00000010256 ENSE00003598610 intron_variant 0.348467 0.24926 0.08404 0.093477 0.6174019 0.0803269 0.1324671 FALSE 4.08577e-06 ENSE00001637247_000 ENSE00001637247 000 9 82242236 82242405 + 53 75 42 NA NA NA NA NA TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 NA NA NA NA NA NA TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC natural 20 29 0.9889562 0.9944363 0.9916962 5467 4886 0.9743647 0.9285112 0.9514379 0.9889562 0.9944363 0.9743647 0.9285112 0 0 0 0 0.9916962 0.9514379 0 0 0 FALSE FALSE NA NA NA NA NA TLE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE4 NA NA NA ENSG00000106829 ENSE00003503015 NA NA NA NA NA NA NA 0.9999216 TRUE NA ENSE00001637247_001 ENSE00001637247 001 9 82242236 82242405 + 53 75 42 C T 82242252 645 17 TTGACTGAGTAGAAAATAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 79627336 79627337 79627337 upstr_intron -37 -0.6792453 TTGACTGAGTAGAAAATAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC mutant NA NA NA NA NA 432 908 0.9996451 0.9767718 0.9882085 0.9889562 0.9944363 0.9743647 0.9285112 NA NA 0.02528037 0.04826066 0.9916962 0.9514379 NA 0.03677051 NA FALSE NA 1 3.23 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/20 rs374303267 1 NA T:0 T:0.0001 ACA C,T 5.768e-05 9:79627337 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003503015 intron_variant 2.23252 0.98734 0.73516 0.156188 0.8138392 0.981786 0.9999216 TRUE 5.6863e-05 ENSE00001637247_002 ENSE00001637247 002 9 82242236 82242405 + 53 75 42 G A 82242268 646 33 TTGACTGAGTAGAAAACAAATAATTGTATTCTATTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 79627352 79627353 79627353 upstr_intron -21 -0.3773585 TTGACTGAGTAGAAAACAAATAATTGTATTCTATTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC mutant NA NA NA NA NA 1493 692 0.9994751 0.9607819 0.9801285 0.9889562 0.9944363 0.9743647 0.9285112 NA NA 0.02511038 0.03227078 0.9916962 0.9514379 NA 0.02869058 NA FALSE NA 1 7.238 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 5/20 1 NA TGT G,A 8.238e-06 9:79627353 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003503015 intron_variant 2.1 0.97982 0.99001 0.156188 0.8150806 0.909065 0.9999216 TRUE NA ENSE00001637247_003 ENSE00001637247 003 9 82242236 82242405 + 53 75 42 G C 82242309 647 74 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCACGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 79627393 79627394 79627394 exon 21 0.28 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCACGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC mutant NA NA NA NA NA 190 1304 1 0.9933234 0.9966617 0.9889562 0.9944363 0.9743647 0.9285112 NA NA 0.02563528 0.06481223 0.9916962 0.9514379 NA 0.04522375 NA FALSE NA 1 5.739 . 5_prime_UTR_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 6/21 rs201980306 1 NA AGG G,C 0.000173 9:79627394 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003503015 missense_variant 3.846116 0.98897 0.97772 0.706298 0.9974221 0 0.9999216 TRUE 0.000109639 ENSE00001637247_004 ENSE00001637247 004 9 82242236 82242405 + 53 75 42 G A 82242310 648 75 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGACTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 79627394 79627395 79627395 exon 22 0.2933333 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGACTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC mutant NA NA NA NA NA 589 1035 1 0.9994836 0.9997418 0.9889562 0.9944363 0.9743647 0.9285112 NA NA 0.02563528 0.07097239 0.9916962 0.9514379 NA 0.04830384 NA FALSE NA 1 9.817 . 5_prime_UTR_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 6/21 1 NA GGC G,A 8.237e-06 9:79627395 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003503015 missense_variant 6.225611 0.99505 0.9912 0.706298 0.9990978 0 0.9999216 TRUE 4.06075e-06 ENSE00001637247_005 ENSE00001637247 005 9 82242236 82242405 + 53 75 42 T C 82242312 649 77 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCCGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 79627396 79627397 79627397 exon 24 0.32 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCCGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC mutant NA NA NA NA NA 1092 1004 1 0.9998424 0.9999212 0.9889562 0.9944363 0.9743647 0.9285112 NA NA 0.02563528 0.07133128 0.9916962 0.9514379 NA 0.04848328 NA FALSE NA 1 0.92 . 5_prime_UTR_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 6/21 rs200765806 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTG T,C 8.237e-06 9:79627397 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003503015 synonymous_variant 0.091954 0.98258 0.89525 0.706298 0.7122112 0 0.9999216 TRUE 4.06075e-06 ENSE00001637247_006 ENSE00001637247 006 9 82242236 82242405 + 53 75 42 G A 82242352 650 117 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACACCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 79627436 79627437 79627437 exon -12 0.8533333 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACACCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC mutant NA NA NA NA NA 498 214 0.8776644 0.9976344 0.9376494 0.9889562 0.9944363 0.9743647 0.9285112 NA NA -0.09670034 0.06912322 0.9916962 0.9514379 NA -0.01378856 NA FALSE NA 1 9.873 . 5_prime_UTR_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 6/21 1 NA CGC G,A 1.647e-05 9:79627437 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003503015 missense_variant 5.250236 0.99505 0.99139 0.706298 0.9981756 0 0.9999216 TRUE 1.2183e-05 ENSE00001637247_007 ENSE00001637247 007 9 82242236 82242405 + 53 75 42 G T 82242371 651 136 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGTCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 79627455 79627456 79627456 downstr_intron 8 1.195122 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGTCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC mutant NA NA NA NA NA 868 2177 1 0.8040092 0.9020046 0.9889562 0.9944363 0.9743647 0.9285112 NA NA 0.02563528 -0.124502 0.9916962 0.9514379 NA -0.04943334 NA FALSE NA 1 4.423 . splice_region_variant&intron_variant LOW TLE4 HGNC 11840 ENST00000376534 6/20 1 NA GGC G,T 8.237e-06 9:79627456 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003503015 splice_region_variant 1.410508 0.98792 0.97778 0.062308 0.9348087 0.977363 0.9999216 TRUE 1.21881e-05 ENSE00001637247_008 ENSE00001637247 008 9 82242236 82242405 + 53 75 42 C T 82242377 652 142 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTTCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 79627461 79627462 79627462 downstr_intron 14 1.341463 TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTTCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC mutant NA NA NA NA NA 575 1413 0.9989323 0.996502 0.9977171 0.9889562 0.9944363 0.9743647 0.9285112 NA NA 0.02456754 0.06799087 0.9916962 0.9514379 NA 0.04627921 NA FALSE NA 1 5.809 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 6/20 1 NA TCC C,T 8.237e-06 9:79627462 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003503015 non_coding_transcript_exon_variant 2.342466 0.99138 0.98869 0.062308 0.8162743 0.9814 0.9999216 TRUE 4.06312e-06 ENSE00001637247_BRK ENSE00001637247 BRK 9 82242236 82242405 + 53 75 42 A,G; T,T NA NA NA TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATTTCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGCCACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC 79627320 79627490 NA NA NA NA NA NA TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATTTCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGCCACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC TTGACTGAGTAGAAAACAAATAATTGTATTCTGTTTCTGATCTTCATTTATAGCACCAGCAACAAGTGGTGCAGGCTGTGGAACGGGCCAAGCAGGTGACCATGGCAGAACTGAACGCCATCATTGGGGTACGTGGCCTTTCCATTTTAGCTCTGATCTTAGTGTTTGTC control NA NA NA NA NA 3927 717 0.08447024 0.02278309 0.05362666 0.9889562 0.9944363 0.9743647 0.9285112 NA NA -0.8898945 -0.9057281 0.9916962 0.9514379 NA -0.8978113 NA TRUE NA NA NA NA NA NA TLE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE4 NA NA NA ENSG00000106829 ENSE00003503015 NA NA NA NA NA NA NA 0.9999216 TRUE NA ENSE00001637332_000 ENSE00001637332 000 12 52182416 52182585 + 63 54 53 NA NA NA NA NA GCTTGCTTTCCAGCCATCTGAGAAGGTGGTATTTTCGCCATGTACATCCTTACCTTCCGGGAATCTACAGCTGCATACATGATGTCCATCCAGCCTTTGAAGGTTGCCTGGCAAACAGAGTCAGTCATTAGACGGTGCCTATAAAGGGAGTGGATGGGAGTCTAGGCAGG 51788631 51788801 NA NA NA NA NA NA CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC natural 45 21 0.8944104 0.7471806 0.8207955 486 75 0.9116407 0.95 0.9308204 0.8944104 0.7471806 0.9116407 0.95 0 0 0 0 0.8207955 0.9308204 0 0 0 FALSE FALSE NA NA NA NA NA SCN8A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCN8A NA NA NA ENSG00000196876 ENSE00001637332 NA NA NA NA NA NA NA 0.9999983 TRUE NA ENSE00001637332_010 ENSE00001637332 010 12 52182416 52182585 + 63 54 53 G A 52182529 1624 114 GCTTGCTTTCCAGCCATCTGAGAAGGTGGTATTTTCGCCATGTACATCCTTACCTTTCGGGAATCTACAGCTGCATACATGATGTCCATCCAGCCTTTGAAGGTTGCCTGGCAAACAGAGTCAGTCATTAGACGGTGCCTATAAAGGGAGTGGATGGGAGTCTAGGCAGG 51788631 51788801 51788744 51788745 51788745 exon -4 0.9444444 CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGAAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC mutant NA NA NA NA NA 42 217 0.95 0.95 0.95 0.8944104 0.7471806 0.9116407 0.95 NA NA 0.03835926 0 0.8207955 0.9308204 NA 0.01917963 NA FALSE NA 0.694 0.018 rs143867796 synonymous_variant LOW SCN8A HGNC 10596 ENST00000354534 23/27 rs143867796&COSM1628666&COSM1628667 1 A:0.0014 A:0.0053 A:0 NA A:0 A:0 A:0 A:0.0059 A:0 GGA G,A 0.0004448 12:51788745 SCN8A HGNC Symbol protein_coding 222598 ENSG00000196876 ENSE00001637332 synonymous_variant 0.704146 0.89897 0.07764 0.706548 0.5721788 0 0.9999983 TRUE 0.000410236 ENSE00001637332_013 ENSE00001637332 013 12 52182416 52182585 + 63 54 53 C T 52182549 1627 134 GCTTGCTTTCCAGCCATCTGAGAAGGTGGTATTTTCACCATGTACATCCTTACCTTCCGGGAATCTACAGCTGCATACATGATGTCCATCCAGCCTTTGAAGGTTGCCTGGCAAACAGAGTCAGTCATTAGACGGTGCCTATAAAGGGAGTGGATGGGAGTCTAGGCAGG 51788631 51788801 51788764 51788765 51788765 downstr_intron 17 1.326923 CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGTGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC mutant NA NA NA NA NA 78 1186 0.9994712 0.9748013 0.9871362 0.8944104 0.7471806 0.9116407 0.95 NA NA 0.08783045 0.02480127 0.8207955 0.9308204 NA 0.05631586 NA FALSE NA 0 -0.119 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:51788765 SCN8A HGNC Symbol protein_coding 222598 ENSG00000196876 ENSE00001637332 intron_variant 0.033826 0.08061 0.00184 0.088506 0.5272517 0.046323 0.9999983 TRUE 1.66459e-05 ENSE00001637332_014 ENSE00001637332 014 12 52182416 52182585 + 63 54 53 C A 52182549 1628 134 GCTTGCTTTCCAGCCATCTGAGAAGGTGGTATTTTCTCCATGTACATCCTTACCTTCCGGGAATCTACAGCTGCATACATGATGTCCATCCAGCCTTTGAAGGTTGCCTGGCAAACAGAGTCAGTCATTAGACGGTGCCTATAAAGGGAGTGGATGGGAGTCTAGGCAGG 51788631 51788801 51788764 51788765 51788765 downstr_intron 17 1.326923 CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGAGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC mutant 32 94 0.85 0.85 0.85 NA NA NA NA NA 0.8944104 0.7471806 0.9116407 0.95 -0.0444104 0.1028194 NA NA 0.8207955 0.9308204 0.02920449 NA NA NA FALSE 0 -0.119 NA NA NA SCN8A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCN8A NA NA NA ENSG00000196876 ENSE00001637332 intron_variant 0.03519 0.19171 0.03572 0.088506 0.4902502 0.046323 0.9999983 TRUE 2.49688e-05 ENSE00001637332_017 ENSE00001637332 017 12 52182416 52182585 + 63 54 53 G A 52182571 1631 156 GCTTGCTTTCCAGCTATCTGAGAAGGTGGTATTTTCGCCATGTACATCCTTACCTTCCGGGAATCTACAGCTGCATACATGATGTCCATCCAGCCTTTGAAGGTTGCCTGGCAAACAGAGTCAGTCATTAGACGGTGCCTATAAAGGGAGTGGATGGGAGTCTAGGCAGG 51788631 51788801 51788786 51788787 51788787 downstr_intron 39 1.75 CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATAGCTGGAAAGCAAGC CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC mutant NA NA NA NA NA 154 375 0.9954562 0.9808695 0.9881629 0.8944104 0.7471806 0.9116407 0.95 NA NA 0.08381547 0.03086951 0.8207955 0.9308204 NA 0.05734249 NA FALSE NA 0 0.451 . intron_variant MODIFIER SCN8A HGNC 10596 ENST00000354534 23/26 1 NA TGG G,A 1.648e-05 12:51788787 SCN8A HGNC Symbol protein_coding 222598 ENSG00000196876 ENSE00001637332 intron_variant 0.316484 0.17265 0.09219 0.088506 0.6866523 0.046323 0.9999983 TRUE 1.72879e-05 ENSE00001637332_BRK ENSE00001637332 BRK 12 52182416 52182585 + 63 54 53 A,G; T,T NA NA NA GCTTGCTTTCCAGCCATCTGAGAAGGTGGTATTTTCGCCATGTACATCCTTGGCTTCCGGGAATCTACAGCTGCATACATGATGTCCATCCAGCCTTTGAAGGTTGCAAGGCAAACAGAGTCAGTCATTAGACGGTGCCTATAAAGGGAGTGGATGGGAGTCTAGGCAGG 51788631 51788801 NA NA NA NA NA NA CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCTTGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGCCAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC CCTGCCTAGACTCCCATCCACTCCCTTTATAGGCACCGTCTAATGACTGACTCTGTTTGCCAGGCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAGGTAAGGATGTACATGGCGAAAATACCACCTTCTCAGATGGCTGGAAAGCAAGC control 104 268 0 0 0 NA NA NA NA NA 0.8944104 0.7471806 0.9116407 0.95 -0.8944104 -0.7471806 NA NA 0.8207955 0.9308204 -0.8207955 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCN8A NA NA NA ENSG00000196876 ENSE00001637332 NA NA NA NA NA NA NA 0.9999983 TRUE NA ENSE00001638395_000 ENSE00001638395 000 6 33137771 33137940 - 53 54 63 NA NA NA NA NA CAACTCCCATCCCCCACTTCCATGACTGGTCCACTCACCCCCTTCCCAGTTACCTTCTCTCCAGGGGGACCCAGGTTCCCAACACCTCCTGGGGGACCTTGTGGGCCCTGGAAGAGGAACAGAAATAGGTGTCATTGCTTAGGATGGAGGTGCCATTTCAGGGGCAAAGT 33169993 33170163 NA NA NA NA NA NA ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG natural 263 329 0.8850113 0.856219 0.8706152 1670 698 0.9613835 0.8557254 0.9085545 0.8850113 0.856219 0.9613835 0.8557254 0 0 0 0 0.8706152 0.9085545 0 0 0 FALSE FALSE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001638395 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001638395_001 ENSE00001638395 001 6 33137771 33137940 - 53 54 63 A G 33137792 818 149 CAACTCCCATCCCCCACTTCCGTGACTGGTCCACTCACCCCCTTCCCAGTTACCTTCTCTCCAGGGGGACCCAGGTTCCCAACACCTCCTGGGGGACCTTGTGGGCCCTGGAAGAGGAACAGAAATAGGTGTCATTGCTTAGGATGGAGGTGCCATTTCAGGGGCAAAGT 33169993 33170163 33170014 33170015 33170015 downstr_intron 32 1.615385 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCACGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 110 25 0.9651565 0.9600367 0.9625966 0.8850113 0.856219 0.9613835 0.8557254 NA NA 0.003773011 0.1043113 0.8706152 0.9085545 NA 0.05404216 NA FALSE NA 0 -0.086 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 48/64 rs530689722 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAT A,G 5.788e-05 6:33170015 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 intron_variant 0.175408 0.23313 0.00961 0.120566 0.3565624 0.0437693 0.9999993 TRUE 4.1212e-05 ENSE00001638395_004 ENSE00001638395 004 6 33137771 33137940 - 53 54 63 C A 33137811 821 130 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGTGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG 33169993 33170163 33170033 33170034 33170034 downstr_intron 13 1.25 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGTGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 520 24 0.9763242 0.8983191 0.9373217 0.8850113 0.856219 0.9613835 0.8557254 NA NA 0.01494067 0.04259368 0.8706152 0.9085545 NA 0.02876717 NA FALSE NA 0 -0.116 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 48/64 rs376636281 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CCC C,A 4.153e-05 6:33170034 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 intron_variant 2.066248 0.27574 0.01914 0.120566 0.7870622 0.358116 0.9999993 TRUE 2.89087e-05 ENSE00001638395_009 ENSE00001638395 009 6 33137771 33137940 - 53 54 63 C T 33137841 826 100 CAACTCCCATCCCCCACTTCCATGACTGGTCCACTCACCCCCTTCCCAGTTACCTTCTCTCCAGGGGGACTCAGGTTCCCAACACCTCCTGGGGGACCTTGTGGGCCCTGGAAGAGGAACAGAAATAGGTGTCATTGCTTAGGATGGAGGTGCCATTTCAGGGGCAAAGT 33169993 33170163 33170063 33170064 33170064 exon -18 0.6851852 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGAGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 68 32 0.9885712 1 0.9942856 0.8850113 0.856219 0.9613835 0.8557254 NA NA 0.02718769 0.1442746 0.8706152 0.9085545 NA 0.08573112 NA FALSE NA 1 7.513 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 48/65 1 unknown(0) NA CCC C,T 8.347e-06 6:33170064 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 missense_variant 5.583941 0.96935 0.81101 0.615465 0.9922876 0 0.9999993 TRUE 4.1387e-06 ENSE00001638395_010 ENSE00001638395 010 6 33137771 33137940 - 53 54 63 G A 33137844 827 97 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACTTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG 33169993 33170163 33170066 33170067 33170067 exon -21 0.6296296 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACTTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 41 32 0.9718719 0.8555307 0.9137013 0.8850113 0.856219 0.9613835 0.8557254 NA NA 0.01048836 -0.0001947212 0.8706152 0.9085545 NA 0.00514682 NA FALSE NA 0.982 1.853 rs147576338 synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 48/65 rs147576338 1 A:0.0008 A:0 A:0.0014 NA A:0 A:0 A:0.0031 A:0 A:0.0002 AGG G,A 0.000384 6:33170067 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 synonymous_variant 0.62638 0.9155 0.36874 0.615465 0.7504494 0 0.9999993 TRUE 0.000347685 ENSE00001638395_013 ENSE00001638395 013 6 33137771 33137940 - 53 54 63 C T 33137867 830 74 CAACTCCCATCCCCCACTTCCATGACTGGTCCACTCACCCCCTTCCCAGTTACCTTCTCTCCAGGGGGACCCAGGTTCCCAACACCTCCTGGGGGATCTTGTGGGCCCTGGAAGAGGAACAGAAATAGGTGTCATTGCTTAGGATGGAGGTGCCATTTCAGGGGCAAAGT 33169993 33170163 33170089 33170090 33170090 exon 11 0.2037037 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGATCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 31 247 0.9986649 1 0.9993324 0.8850113 0.856219 0.9613835 0.8557254 NA NA 0.03728132 0.1442746 0.8706152 0.9085545 NA 0.09077794 NA FALSE NA 1 7.513 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 48/65 1 unknown(0) NA ACC C,T 8.366e-06 6:33170090 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 missense_variant 4.354036 0.96941 0.81101 0.554377 0.9924001 0 0.9999993 TRUE 4.14106e-06 ENSE00001638395_014 ENSE00001638395 014 6 33137771 33137940 - 53 54 63 G A 33137880 831 61 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCTAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG 33169993 33170163 33170102 33170103 33170103 upstr_intron -3 -0.03174603 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCTAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 131 225 0.8985987 0.9963671 0.9474829 0.8850113 0.856219 0.9613835 0.8557254 NA NA -0.0627848 0.1406416 0.8706152 0.9085545 NA 0.03892841 NA FALSE NA 0.75 1.965 . splice_region_variant&intron_variant LOW COL11A2 HGNC 2187 ENST00000395197 47/64 1 NA TGG G,A 3.344e-05 6:33170103 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 splice_region_variant 0.089005 0.69618 0.04042 0.126639 0.5246833 0.375112 0.9999993 TRUE 3.3137e-05 ENSE00001638395_015 ENSE00001638395 015 6 33137771 33137940 - 53 54 63 G T 33137881 832 60 CAACTCCCATCCCCCACTTCCATGACTGGTCCACTCACCCCCTTCCCAGTTACCTTCTCTCCAGGGGGACCCAGGTTCCCAACACCTCCTGGGGGACCTTGTGGGCCCTGTAAGAGGAACAGAAATAGGTGTCATTGCTTAGGATGGAGGTGCCATTTCAGGGGCAAAGT 33169993 33170163 33170103 33170104 33170104 upstr_intron -4 -0.04761905 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTACAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 67 55 0.9993841 1 0.9996921 0.8850113 0.856219 0.9613835 0.8557254 NA NA 0.03800062 0.1442746 0.8706152 0.9085545 NA 0.09113759 NA FALSE NA 0 -0.122 . splice_region_variant&intron_variant LOW COL11A2 HGNC 2187 ENST00000395197 47/64 1 NA GGA G,T 8.361e-06 6:33170104 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 splice_region_variant -0.215771 0.23557 0.02531 0.126639 0.6986362 0.36168 0.9999993 TRUE 4.14202e-06 ENSE00001638395_018 ENSE00001638395 018 6 33137771 33137940 - 53 54 63 G T 33137898 835 43 CAACTCCCATCCCCCACTTCCATGACTGGTCCACTCACCCCCTTCCCAGTTACCTTCTCTCCAGGGGGACCCAGGTTCCCAACACCTCCTGGGGGACCTTGTGGGCCCTGGAAGAGGAACAGAAATATGTGTCATTGCTTAGGATGGAGGTGCCATTTCAGGGGCAAAGT 33169993 33170163 33170120 33170121 33170121 upstr_intron -21 -0.3174603 ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACATATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 198 50 0.93817 0.95 0.944085 0.8850113 0.856219 0.9613835 0.8557254 NA NA -0.02321355 0.09427456 0.8706152 0.9085545 NA 0.0355305 NA FALSE NA 0 -0.235 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 47/64 1 NA AGG G,T 8.348e-06 6:33170121 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 intron_variant 1.024064 0.21574 0.00517 0.126639 0.8776204 0.0688306 0.9999993 TRUE 4.14175e-06 ENSE00001638395_019 ENSE00001638395 019 6 33137771 33137940 - 53 54 63 C A 33137923 836 18 ACTTTGCCCCTGAAATGTCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG 33169993 33170163 33170145 33170146 33170146 upstr_intron -46 -0.7142857 ACTTTGCCCCTGAAATGTCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 119 65 0.9921346 0.9809955 0.986565 0.8850113 0.856219 0.9613835 0.8557254 NA NA 0.03075102 0.1252701 0.8706152 0.9085545 NA 0.07801056 NA FALSE NA 0 -0.002 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 47/64 1 NA GCC C,A 8.316e-06 6:33170146 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 intron_variant 0.848786 0.27136 0.01222 0.120566 0.8464541 0.0537858 0.9999993 TRUE 1.65789e-05 ENSE00001638395_020 ENSE00001638395 020 6 33137771 33137940 - 53 54 63 C A 33137924 837 17 ACTTTGCCCCTGAAATTGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG 33169993 33170163 33170146 33170147 33170147 upstr_intron -47 -0.7301587 ACTTTGCCCCTGAAATTGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG mutant NA NA NA NA NA 123 336 0.9581539 0.8531199 0.9056369 0.8850113 0.856219 0.9613835 0.8557254 NA NA -0.003229654 -0.002605551 0.8706152 0.9085545 NA -0.002917602 NA FALSE NA 0.001 0.874 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 47/64 1 NA CCA C,A 8.315e-06 6:33170147 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001638395 intron_variant 0.863067 0.27682 0.03674 0.120566 0.8507187 0.0537858 0.9999993 TRUE 8.28892e-06 ENSE00001638395_BRK ENSE00001638395 BRK 6 33137771 33137940 - 53 54 63 A,G; T,T NA NA NA ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCTTGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGCCAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG 33169993 33170163 NA NA NA NA NA NA ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCTTGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGCCAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG ACTTTGCCCCTGAAATGGCACCTCCATCCTAAGCAATGACACCTATTTCTGTTCCTCTTCCAGGGCCCACAAGGTCCCCCAGGAGGTGTTGGGAACCTGGGTCCCCCTGGAGAGAAGGTAACTGGGAAGGGGGTGAGTGGACCAGTCATGGAAGTGGGGGATGGGAGTTG control 41 18 0 0 0 NA NA NA NA NA 0.8850113 0.856219 0.9613835 0.8557254 -0.8850113 -0.856219 NA NA 0.8706152 0.9085545 -0.8706152 NA NA NA TRUE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001638395 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001638836_000 ENSE00001638836 000 16 55890244 55890413 - 45 69 56 NA NA NA NA NA AAGTGCATGTGTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 NA NA NA NA NA NA ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT natural 753 990 0.8514706 0.8102308 0.8308507 1441 1104 0.922986 0.8538982 0.8884421 0.8514706 0.8102308 0.922986 0.8538982 0 0 0 0 0.8308507 0.8884421 0 0 0 FALSE FALSE NA NA NA NA NA CES5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CES5A NA NA NA ENSG00000159398 ENSE00003694532 NA NA NA NA NA NA NA 5.951612e-19 FALSE NA ENSE00001638836_001 ENSE00001638836 001 16 55890244 55890413 - 45 69 56 G T 55890254 1677 160 AAGTGCATGTTTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856341 55856342 55856342 downstr_intron 35 1.795455 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGAAACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant 10 39 0.85 0.85 0.85 36 165 0.997691 0.946024 0.9718575 0.8514706 0.8102308 0.922986 0.8538982 -0.001470611 0.03976916 0.07470505 0.09212576 0.8308507 0.8884421 0.01914927 0.08341541 0.06426613 FALSE FALSE 0 -2.089 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 9/12 1 NA TGT G,T 8.236e-06 16:55856342 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant -0.175987 0.04255 0.00644 0.053691 0.672316 0.0448725 5.951612e-19 FALSE 4.06898e-06 ENSE00001638836_002 ENSE00001638836 002 16 55890244 55890413 - 45 69 56 T C 55890257 1678 157 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGGGACACATGCACTT 55856331 55856501 55856344 55856345 55856345 downstr_intron 32 1.727273 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGGGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 142 200 0.95 0.9769708 0.9634854 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.02701404 0.1230726 0.8308507 0.8884421 NA 0.0750433 NA FALSE NA 0.003 -0.239 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 9/12 1 NA CTC T,C 4.118e-05 16:55856345 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant 0.325614 0.12959 0.03676 0.053691 0.8258782 0.0448725 5.951612e-19 FALSE 5.28791e-05 ENSE00001638836_003 ENSE00001638836 003 16 55890244 55890413 - 45 69 56 C G 55890266 1679 148 AAGTGCATGTGTCTCTGGAGTAGTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856353 55856354 55856354 downstr_intron 23 1.522727 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCACTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 22 49 0.95 0.95 0.95 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.02701404 0.09610178 0.8308507 0.8884421 NA 0.06155791 NA FALSE NA 0 -1.178 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 9/12 1 NA ACT C,G 2.471e-05 16:55856354 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant -0.211179 0.08089 0.01869 0.053691 0.6867315 0.0448725 5.951612e-19 FALSE 8.1324e-06 ENSE00001638836_004 ENSE00001638836 004 16 55890244 55890413 - 45 69 56 C T 55890269 1680 145 AAGTGCATGTGTCTCTGGAGTACTGTAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856356 55856357 55856357 downstr_intron 20 1.454545 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTACAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 827 565 0.9189482 0.9753689 0.9471585 0.8514706 0.8102308 0.922986 0.8538982 NA NA -0.004037804 0.1214706 0.8308507 0.8884421 NA 0.05871642 NA FALSE NA 0 0.481 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 9/12 rs367960815 1 NA T:0 T:0.0001 GCA C,T 8.236e-06 16:55856357 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant -0.28672 0.1066 0.02825 0.053691 0.3140508 0.0448725 5.951612e-19 FALSE NA ENSE00001638836_005 ENSE00001638836 005 16 55890244 55890413 - 45 69 56 G T 55890271 1681 143 AAGTGCATGTGTCTCTGGAGTACTGCATCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856358 55856359 55856359 downstr_intron 18 1.409091 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGATGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant 23 15 0.85 0.85 0.85 151 314 0.9798629 0.9606235 0.9702432 0.8514706 0.8102308 0.922986 0.8538982 -0.001470611 0.03976916 0.05687694 0.1067253 0.8308507 0.8884421 0.01914927 0.0818011 0.06265183 FALSE FALSE 0 -0.693 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 9/12 1 NA AGC G,T 2.471e-05 16:55856359 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant -0.419234 0.11517 0.01298 0.053691 0.3191682 0.0448725 5.951612e-19 FALSE 2.03262e-05 ENSE00001638836_008 ENSE00001638836 008 16 55890244 55890413 - 45 69 56 A G 55890287 1684 127 AAGTGCATGTGTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCGCCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856374 55856375 55856375 downstr_intron 2 1.045455 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGCGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 34 444 0.01460469 0.0007210169 0.007662852 0.8514706 0.8102308 0.922986 0.8538982 NA NA -0.9083813 -0.8531772 0.8308507 0.8884421 NA -0.8807792 NA TRUE NA 1 3.575 . splice_donor_variant HIGH CES5A HGNC 26459 ENST00000520435 9/12 1 NA HC CAC A,G 0.0002553 16:55856375 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 splice_donor_variant 2.635182 0.96201 0.85273 0.053691 0.9250162 0.198957 5.951612e-19 FALSE 0.000199142 ENSE00001638836_009 ENSE00001638836 009 16 55890244 55890413 - 45 69 56 T C 55890301 1685 113 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATGCAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 55856388 55856389 55856389 exon -13 0.826087 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATGCAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 661 253 0.9986852 0.9942329 0.9964591 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.07569921 0.1403347 0.8308507 0.8884421 NA 0.108017 NA FALSE NA 0 -1.334 . missense_variant MODERATE CES5A HGNC 26459 ENST00000520435 9/13 rs199536556 1 tolerated(0.2) possibly_damaging(0.854) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GTA T,C 8.236e-06 16:55856389 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 missense_variant 1.244559 0.12314 0.01241 0.487112 0.1574144 0 5.951612e-19 FALSE 4.06355e-06 ENSE00001638836_010 ENSE00001638836 010 16 55890244 55890413 - 45 69 56 A G 55890302 1686 112 AAGTGCATGTGTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTGTCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856389 55856390 55856390 exon -14 0.8115942 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGACACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 34 4014 0.9898962 0.9551444 0.9725203 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.06691029 0.1012462 0.8308507 0.8884421 NA 0.08407825 NA FALSE NA 0.001 1.427 . missense_variant MODERATE CES5A HGNC 26459 ENST00000520435 9/13 1 tolerated(0.24) benign(0.057) NA TAT A,G 8.236e-06 16:55856390 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 missense_variant 0.700398 0.20703 0.06864 0.487112 0.7181124 0 5.951612e-19 FALSE 1.21909e-05 ENSE00001638836_013 ENSE00001638836 013 16 55890244 55890413 - 45 69 56 G A 55890314 1689 100 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGTCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 55856401 55856402 55856402 exon -26 0.6376812 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGTCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 60 514 0.9974361 0.9968982 0.9971671 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.07445009 0.143 0.8308507 0.8884421 NA 0.108725 NA FALSE NA 0.005 1.548 . missense_variant MODERATE CES5A HGNC 26459 ENST00000520435 9/13 1 tolerated(0.18) possibly_damaging(0.549) NA GGC G,A 8.236e-06 16:55856402 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 missense_variant 2.423049 0.21345 0.03583 0.487112 0.9466844 0 5.951612e-19 FALSE 4.06412e-06 ENSE00001638836_015 ENSE00001638836 015 16 55890244 55890413 - 45 69 56 C A 55890322 1691 92 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAATTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 55856409 55856410 55856410 exon -34 0.5217391 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAATTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant 429 859 0.8474404 0.8550138 0.8512271 NA NA NA NA NA 0.8514706 0.8102308 0.922986 0.8538982 -0.004030211 0.04478292 NA NA 0.8308507 0.8884421 0.02037635 NA NA NA FALSE 0.929 0.243 . missense_variant MODERATE CES5A HGNC 26459 ENST00000520435 9/13 rs544222694 1 deleterious(0.04) possibly_damaging(0.88) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ACT C,A 2.471e-05 16:55856410 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 missense_variant 4.155317 0.93786 0.58676 0.487112 0.9954501 0 5.951612e-19 FALSE 3.2514e-05 ENSE00001638836_017 ENSE00001638836 017 16 55890244 55890413 - 45 69 56 G A 55890328 1693 86 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCTAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 55856415 55856416 55856416 exon 30 0.4347826 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCTAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant 26 42 0.8286263 0.85 0.8393132 NA NA NA NA NA 0.8514706 0.8102308 0.922986 0.8538982 -0.0228443 0.03976916 NA NA 0.8308507 0.8884421 0.008462427 NA NA NA FALSE 1 3.777 . synonymous_variant LOW CES5A HGNC 26459 ENST00000520435 9/13 1 NA TGG G,A 3.295e-05 16:55856416 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 synonymous_variant 0.666559 0.96388 0.83924 0.487112 0.5647184 0 5.951612e-19 FALSE 4.47064e-05 ENSE00001638836_018 ENSE00001638836 018 16 55890244 55890413 - 45 69 56 C T 55890332 1694 82 AAGTGCATGTGTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGTCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856419 55856420 55856420 exon 26 0.3768116 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGACTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 44 66 0.9498369 0.9921339 0.9709854 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.02685094 0.1382357 0.8308507 0.8884421 NA 0.08254331 NA FALSE NA 0.115 0.518 . missense_variant MODERATE CES5A HGNC 26459 ENST00000520435 9/13 1 tolerated(0.17) benign(0.272) NA GCC C,T 8.237e-06 16:55856420 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 missense_variant 0.786004 0.33003 0.05306 0.487112 0.7810488 0 5.951612e-19 FALSE 4.06435e-06 ENSE00001638836_020 ENSE00001638836 020 16 55890244 55890413 - 45 69 56 A T 55890334 1696 80 AAGTGCATGTGTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCTCTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856421 55856422 55856422 exon 24 0.3478261 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGAGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 131 1036 0.964099 0.9538589 0.9589789 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.04111301 0.09996065 0.8308507 0.8884421 NA 0.07053683 NA FALSE NA 0 -0.883 NA NA NA CES5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:55856422 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 missense_variant -1.006877 0.08234 0.00577 0.487112 0.3818616 0 5.951612e-19 FALSE 0 ENSE00001638836_022 ENSE00001638836 022 16 55890244 55890413 - 45 69 56 C A 55890343 1698 71 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGATATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 55856430 55856431 55856431 exon 15 0.2173913 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGATATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant 22 129 0.8246764 0.85 0.8373382 1114 28 0.9399226 0.9444421 0.9421823 0.8514706 0.8102308 0.922986 0.8538982 -0.02679419 0.03976916 0.01693664 0.09054385 0.8308507 0.8884421 0.006487482 0.05374025 0.04725276 FALSE FALSE 0.742 0.215 . missense_variant MODERATE CES5A HGNC 26459 ENST00000520435 9/13 rs80171734 1 tolerated(0.29) benign(0.046) NA TCT C,A 3.295e-05 16:55856431 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 missense_variant 0.849126 0.48748 0.19596 0.487112 0.6000919 0 5.951612e-19 FALSE 3.65788e-05 ENSE00001638836_024 ENSE00001638836 024 16 55890244 55890413 - 45 69 56 G A 55890362 1700 52 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCTACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 55856449 55856450 55856450 upstr_intron -5 -0.07142857 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCTACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 44 144 0.8 0.7727643 0.7863822 0.8514706 0.8102308 0.922986 0.8538982 NA NA -0.122986 -0.08113388 0.8308507 0.8884421 NA -0.1020599 NA FALSE NA 0.993 0.623 . splice_region_variant&intron_variant LOW CES5A HGNC 26459 ENST00000520435 8/12 1 NA TGG G,A 3.295e-05 16:55856450 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 splice_region_variant 0.282531 0.86703 0.51071 0.053691 0.389922 0.348952 5.951612e-19 FALSE 2.0325e-05 ENSE00001638836_025 ENSE00001638836 025 16 55890244 55890413 - 45 69 56 G A 55890370 1701 44 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGTTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 55856457 55856458 55856458 upstr_intron -13 -0.2142857 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGTTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 93 127 1 1 1 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.07701404 0.1461018 0.8308507 0.8884421 NA 0.1115579 NA FALSE NA 0.089 -0.006 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 8/12 1 NA AGC G,A 5.766e-05 16:55856458 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant -0.069519 0.08375 0.01747 0.053691 0.4128169 0.153991 5.951612e-19 FALSE 5.69157e-05 ENSE00001638836_027 ENSE00001638836 027 16 55890244 55890413 - 45 69 56 G A 55890372 1703 42 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCATGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 55856459 55856460 55856460 upstr_intron -15 -0.25 ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCATGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 33 84 0.9987462 0.9990887 0.9989175 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.07576025 0.1451905 0.8308507 0.8884421 NA 0.1104754 NA FALSE NA 0.003 1.331 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 8/12 1 NA CGT G,A 9.884e-05 16:55856460 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant -0.179025 0.12118 0.04941 0.053691 0.5770728 0.181978 5.951612e-19 FALSE 9.35378e-05 ENSE00001638836_028 ENSE00001638836 028 16 55890244 55890413 - 45 69 56 C G 55890390 1704 24 AAGTGCATGTGTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATGTGGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856477 55856478 55856478 upstr_intron -33 -0.5714286 ATGGGTTTACCTTCTCATGACCACATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 353 184 0.9672874 0.9905868 0.9789371 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.04430144 0.1366886 0.8308507 0.8884421 NA 0.09049503 NA FALSE NA 0 -0.029 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 8/12 rs369050069 1 NA G:0.0005 G:0 TCT C,G 1.647e-05 16:55856478 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant 0.064649 0.15438 0.06658 0.053691 0.7727433 0.181978 5.951612e-19 FALSE 1.22214e-05 ENSE00001638836_030 ENSE00001638836 030 16 55890244 55890413 - 45 69 56 G T 55890392 1706 22 AAGTGCATGTGTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTTGTCATGAGAAGGTAAACCCAT 55856331 55856501 55856479 55856480 55856480 upstr_intron -35 -0.6071429 ATGGGTTTACCTTCTCATGACAAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant 10 21 0.85 0.7978489 0.8239244 NA NA NA NA NA 0.8514706 0.8102308 0.922986 0.8538982 -0.001470611 -0.01238196 NA NA 0.8308507 0.8884421 -0.006926286 NA NA NA FALSE 0 0.044 NA NA NA CES5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:55856480 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant -0.043622 0.12862 0.05077 0.053691 0.6561646 0.183578 5.951612e-19 FALSE 1.63044e-05 ENSE00001638836_033 ENSE00001638836 033 16 55890244 55890413 - 45 69 56 A G 55890402 1709 12 AAGTGCATGTGTCTCTGGAGTACTGCAGCCTCCCAAGCTACTCACCAGGATGTTTTGTATCAGATGGAGGGCAAGGGACTTGTTGGAGCCACTGAGGATCTCAGGAGCCTCCTTCTGTGGAGAGAAGCGTGCCCTCTGTAAGCCATCTGGTCATGAGAGGGTAAACCCAT 55856331 55856501 55856489 55856490 55856490 upstr_intron -45 -0.7857143 ATGGGTTTACCCTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT mutant NA NA NA NA NA 27 1358 0.95 0.9540968 0.9520484 0.8514706 0.8102308 0.922986 0.8538982 NA NA 0.02701404 0.1001986 0.8308507 0.8884421 NA 0.06360633 NA FALSE NA 0.029 1.068 . intron_variant MODIFIER CES5A HGNC 26459 ENST00000520435 8/12 1 NA AAG A,G 8.237e-06 16:55856490 CES5A HGNC Symbol protein_coding 109877 ENSG00000159398 ENSE00003694532 intron_variant -0.030271 0.10719 0.04746 0.055872 0.6252213 0.155478 5.951612e-19 FALSE 4.08487e-06 ENSE00001638836_BRK ENSE00001638836 BRK 16 55890244 55890413 - 45 69 56 A,G; T,T NA NA NA ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACTTAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGCCGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT 55856331 55856501 NA NA NA NA NA NA ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACTTAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGCCGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT ATGGGTTTACCTTCTCATGACCAGATGGCTTACAGAGGGCACGCTTCTCTCCACAGAAGGAGGCTCCTGAGATCCTCAGTGGCTCCAACAAGTCCCTTGCCCTCCATCTGATACAAAACATCCTGGTGAGTAGCTTGGGAGGCTGCAGTACTCCAGAGACACATGCACTT control NA NA NA NA NA 114 168 0 0 0 0.8514706 0.8102308 0.922986 0.8538982 NA NA -0.922986 -0.8538982 0.8308507 0.8884421 NA -0.8884421 NA TRUE NA NA NA NA NA NA CES5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CES5A NA NA NA ENSG00000159398 ENSE00003694532 NA NA NA NA NA NA NA 5.951612e-19 FALSE NA ENSE00001638909_000 ENSE00001638909 000 19 5613428 5613597 - 48 63 59 NA NA NA NA NA TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 NA NA NA NA NA NA TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT natural 109 85 0.9960472 0.9909679 0.9935075 1563 2129 0.9947903 0.9906509 0.9927206 0.9960472 0.9909679 0.9947903 0.9906509 0 0 0 0 0.9935075 0.9927206 0 0 0 FALSE FALSE NA NA NA NA NA SAFB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAFB2 NA NA NA ENSG00000130254 ENSE00003594754 NA NA NA NA NA NA NA 0.9995825 TRUE NA ENSE00001638909_001 ENSE00001638909 001 19 5613428 5613597 - 48 63 59 A T 5613448 381 150 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCAGGAAATGTTAATCGAGTGGT 5613416 5613586 5613436 5613437 5613437 downstr_intron 28 1.595745 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCAGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 347 1324 0.9948636 1 0.9974318 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 7.332468e-05 0.009349071 0.9935075 0.9927206 NA 0.004711198 NA FALSE NA 0 -1.054 . intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 2/8 rs371059125 1 NA T:0.0009 T:0 CAG A,T 3.295e-05 19:5613437 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant 0.129527 0.18483 0.04827 0.283894 0.7608814 0.0539571 0.9995825 TRUE 1.65276e-05 ENSE00001638909_002 ENSE00001638909 002 19 5613428 5613597 - 48 63 59 C T 5613450 382 148 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCACTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613438 5613439 5613439 downstr_intron 26 1.553191 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCACTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 653 601 0.9994314 0.9981535 0.9987924 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.004641094 0.007502539 0.9935075 0.9927206 NA 0.006071816 NA FALSE NA 0 -3.21 rs142593043 intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 2/8 rs142593043 1 T:0.0040 T:0.0023 T:0.0072 NA T:0 T:0.0109 T:0.001 T:0.0016 T:0.011 GCG C,T 0.008055 19:5613439 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant -0.411635 0.14699 0.02551 0.283894 0.7273658 0.0539571 0.9995825 TRUE 0.00824791 ENSE00001638909_006 ENSE00001638909 006 19 5613428 5613597 - 48 63 59 G A 5613467 386 131 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTATCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613455 5613456 5613456 downstr_intron 9 1.191489 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTATCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 560 1942 0.9994106 0.9953991 0.9974048 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.004620283 0.004748163 0.9935075 0.9927206 NA 0.004684223 NA FALSE NA 0 -0.679 . intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 2/8 1 NA GGT G,A 8.236e-06 19:5613456 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant 0.37394 0.20934 0.10754 0.283894 0.6576409 0.073833 0.9995825 TRUE 4.07687e-06 ENSE00001638909_007 ENSE00001638909 007 19 5613428 5613597 - 48 63 59 C T 5613476 387 122 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCAGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613464 5613465 5613465 exon -1 1 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCAGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 2044 207 0.9476412 0.9961605 0.9719009 0.9960472 0.9909679 0.9947903 0.9906509 NA NA -0.04714912 0.005509579 0.9935075 0.9927206 NA -0.02081977 NA FALSE NA 0.988 0.832 . splice_region_variant&synonymous_variant&NMD_transcript_variant LOW SAFB2 HGNC 21605 ENST00000591123 2/9 COSM1612863 1 NA CCG C,T 2.471e-05 19:5613465 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 splice_region_variant 0.522484 0.60643 0.74982 0.706548 0.7024625 0 0.9995825 TRUE 3.26238e-05 ENSE00001638909_008 ENSE00001638909 008 19 5613428 5613597 - 48 63 59 G A 5613477 388 121 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCTGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613465 5613466 5613466 exon -2 0.984127 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCTGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 49 1550 1 0.998438 0.999219 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 0.007787087 0.9935075 0.9927206 NA 0.006498382 NA FALSE NA 0.968 1.773 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE SAFB2 HGNC 21605 ENST00000591123 2/9 rs371499049 1 tolerated(0.35) possibly_damaging(0.664) NA A:0 A:0.0001 CGG G,A 9.06e-05 19:5613466 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 missense_variant 1.41362 0.60075 0.59031 0.706548 0.2255233 0 0.9995825 TRUE 0.000134529 ENSE00001638909_009 ENSE00001638909 009 19 5613428 5613597 - 48 63 59 T C 5613486 389 112 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAGAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613474 5613475 5613475 exon -11 0.8412698 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAGAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 51 134 1 1 1 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 0.009349071 0.9935075 0.9927206 NA 0.007279374 NA FALSE NA 0.114 0.493 . missense_variant&NMD_transcript_variant MODERATE SAFB2 HGNC 21605 ENST00000591123 2/9 1 tolerated(0.39) benign(0.113) NA TTT T,C 4.118e-05 19:5613475 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 missense_variant 0.437849 0.4455 0.46008 0.706548 0.9542637 0 0.9995825 TRUE 2.84866e-05 ENSE00001638909_010 ENSE00001638909 010 19 5613428 5613597 - 48 63 59 T C 5613487 390 111 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCGAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613475 5613476 5613476 exon -12 0.8253968 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCGAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 193 217 0.8394674 1 0.9197337 0.9960472 0.9909679 0.9947903 0.9906509 NA NA -0.1553229 0.009349071 0.9935075 0.9927206 NA -0.0729869 NA FALSE NA 0.981 1.922 . missense_variant&NMD_transcript_variant MODERATE SAFB2 HGNC 21605 ENST00000591123 2/9 1 tolerated(0.36) possibly_damaging(0.72) NA TTG T,C 8.236e-06 19:5613476 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 missense_variant 0.810419 0.89659 0.88072 0.706548 0.7100965 0 0.9995825 TRUE 4.06762e-06 ENSE00001638909_011 ENSE00001638909 011 19 5613428 5613597 - 48 63 59 A C 5613490 391 108 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACGTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613478 5613479 5613479 exon -15 0.7777778 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACGTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 94 725 1 1 1 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 0.009349071 0.9935075 0.9927206 NA 0.007279374 NA FALSE NA 1 0.694 . missense_variant&NMD_transcript_variant MODERATE SAFB2 HGNC 21605 ENST00000591123 2/9 1 tolerated(0.06) possibly_damaging(0.688) NA AAG A,C 1.647e-05 19:5613479 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 missense_variant 1.990108 0.87825 0.76208 0.706548 0.9624013 0 0.9995825 TRUE 8.13478e-06 ENSE00001638909_012 ENSE00001638909 012 19 5613428 5613597 - 48 63 59 G A 5613498 392 100 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATTGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613486 5613487 5613487 exon -23 0.6507937 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATTGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 105 14 1 1 1 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 0.009349071 0.9935075 0.9927206 NA 0.007279374 NA FALSE NA 0.073 2.747 . missense_variant&NMD_transcript_variant MODERATE SAFB2 HGNC 21605 ENST00000591123 2/9 1 deleterious(0) possibly_damaging(0.823) NA CGA G,A 1.647e-05 19:5613487 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 missense_variant 2.248676 0.29409 0.32152 0.706548 0.9942334 0 0.9995825 TRUE 8.1281e-06 ENSE00001638909_013 ENSE00001638909 013 19 5613428 5613597 - 48 63 59 A G 5613510 393 88 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTCGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613498 5613499 5613499 exon 29 0.4603175 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTCGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 1582 143 0.9375392 0.9950612 0.9663002 0.9960472 0.9909679 0.9947903 0.9906509 NA NA -0.0572511 0.004410226 0.9935075 0.9927206 NA -0.02642044 NA FALSE NA 0.978 2.555 . missense_variant&NMD_transcript_variant MODERATE SAFB2 HGNC 21605 ENST00000591123 2/9 1 deleterious(0.01) benign(0.426) NA CAA A,G 8.236e-06 19:5613499 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 missense_variant 1.430859 0.61911 0.81638 0.706548 0.9823959 0 0.9995825 TRUE 1.21859e-05 ENSE00001638909_014 ENSE00001638909 014 19 5613428 5613597 - 48 63 59 A G 5613512 394 86 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACCTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613500 5613501 5613501 exon 27 0.4285714 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACCTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 400 673 0.9981641 0.9985161 0.9983401 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.003373777 0.007865135 0.9935075 0.9927206 NA 0.005619456 NA FALSE NA 0.083 1.265 rs148685765 synonymous_variant&NMD_transcript_variant LOW SAFB2 HGNC 21605 ENST00000591123 2/9 rs148685765 1 NA G:0 G:0.0003 AAG A,G 0.0003953 19:5613501 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 synonymous_variant -0.969465 0.2774 0.50637 0.706548 0.4026171 0 0.9995825 TRUE 0.000312795 ENSE00001638909_016 ENSE00001638909 016 19 5613428 5613597 - 48 63 59 A T 5613522 396 76 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATATAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613510 5613511 5613511 exon 17 0.2698413 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATATAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 533 1064 0.9977627 1 0.9988813 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.002972363 0.009349071 0.9935075 0.9927206 NA 0.006160717 NA FALSE NA 0.035 3.429 rs142234147 missense_variant&NMD_transcript_variant MODERATE SAFB2 HGNC 21605 ENST00000591123 2/9 rs142234147 1 tolerated(0.05) possibly_damaging(0.601) NA T:0.0002 T:0 AAA A,T 2.471e-05 19:5613511 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 missense_variant 1.745756 0.39773 0.53459 0.706548 0.9848458 0 0.9995825 TRUE 1.21884e-05 ENSE00001638909_020 ENSE00001638909 020 19 5613428 5613597 - 48 63 59 A G 5613546 400 52 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGCTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613534 5613535 5613535 upstr_intron -8 -0.1186441 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGCTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 33 533 1 1 1 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 0.009349071 0.9935075 0.9927206 NA 0.007279374 NA FALSE NA 0.29 1.366 . splice_region_variant&intron_variant&NMD_transcript_variant LOW SAFB2 HGNC 21605 ENST00000591123 1/8 1 NA AAC A,G 8.236e-06 19:5613535 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 splice_region_variant 1.133053 0.27244 0.32648 0.075938 0.6872687 0.115222 0.9995825 TRUE 4.07e-06 ENSE00001638909_021 ENSE00001638909 021 19 5613428 5613597 - 48 63 59 T C 5613552 401 46 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCGTTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613540 5613541 5613541 upstr_intron -14 -0.220339 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCGTTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 499 437 1 0.9978821 0.9989411 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 0.00723122 0.9935075 0.9927206 NA 0.006220448 NA FALSE NA 0 -2.614 . intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 1/8 rs201943640 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0.0002 C:0.0027 ATG T,C 0.001087 19:5613541 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant 1.692982 0.17021 0.05006 0.075938 0.7690243 0.095993 0.9995825 TRUE 0.00116909 ENSE00001638909_023 ENSE00001638909 023 19 5613428 5613597 - 48 63 59 C T 5613565 403 33 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACAAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613553 5613554 5613554 upstr_intron -27 -0.440678 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACAAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 726 623 0.9994887 1 0.9997444 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.004698391 0.009349071 0.9935075 0.9927206 NA 0.007023731 NA FALSE NA 0 -0.482 . intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 1/8 1 NA TCG C,T 2.471e-05 19:5613554 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant 0.610689 0.12516 0.01487 0.099367 0.8578062 0.0584137 0.9995825 TRUE 1.6358e-05 ENSE00001638909_024 ENSE00001638909 024 19 5613428 5613597 - 48 63 59 G A 5613566 404 32 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCATGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613554 5613555 5613555 upstr_intron -28 -0.4576271 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCATGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 179 430 1 0.9981195 0.9990597 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 0.007468553 0.9935075 0.9927206 NA 0.006339115 NA FALSE NA 0 -0.278 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:5613555 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant 0.65718 0.2144 0.11078 0.099367 0.8077509 0.0584137 0.9995825 TRUE 1.22702e-05 ENSE00001638909_025 ENSE00001638909 025 19 5613428 5613597 - 48 63 59 G C 5613566 405 32 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCAGGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613554 5613555 5613555 upstr_intron -28 -0.4576271 TCAGCCTTGGTTTTCATAGCTCCAGCCTCCAGGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 938 905 0.9948225 0.9978159 0.9963192 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 3.222028e-05 0.00716496 0.9935075 0.9927206 NA 0.00359859 NA FALSE NA 0 -0.278 NA NA NA SAFB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAFB2 NA NA NA ENSG00000130254 ENSE00003594754 intron_variant 0.354016 0.25449 0.30292 0.099367 0.6467839 0.0584137 0.9995825 TRUE 4.09008e-06 ENSE00001638909_026 ENSE00001638909 026 19 5613428 5613597 - 48 63 59 G A 5613568 406 30 TCAGCCTTGGTTTTCATAGCTCCAGCCTCTACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613556 5613557 5613557 upstr_intron -30 -0.4915254 TCAGCCTTGGTTTTCATAGCTCCAGCCTCTACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 744 2007 0.9918677 0.9361343 0.964001 0.9960472 0.9909679 0.9947903 0.9906509 NA NA -0.002922606 -0.05451662 0.9935075 0.9927206 NA -0.02871961 NA FALSE NA 0.151 0.804 . intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 1/8 1 NA TGG G,A 8.237e-06 19:5613557 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant 0.644386 0.24007 0.15918 0.099367 0.8060507 0.0584137 0.9995825 TRUE 4.09323e-06 ENSE00001638909_027 ENSE00001638909 027 19 5613428 5613597 - 48 63 59 C G 5613573 407 25 TCAGCCTTGGTTTTCATAGCTCCACCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613561 5613562 5613562 upstr_intron -35 -0.5762712 TCAGCCTTGGTTTTCATAGCTCCACCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 225 94 1 1 1 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 0.009349071 0.9935075 0.9927206 NA 0.007279374 NA FALSE NA 0 -0.289 . intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 1/8 rs369714416 1 NA G:0.0007 G:0 GCT C,G 0.0001153 19:5613562 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant 0.165427 0.20359 0.0811 0.099367 0.333196 0.0584137 0.9995825 TRUE 9.12159e-05 ENSE00001638909_028 ENSE00001638909 028 19 5613428 5613597 - 48 63 59 T C 5613582 408 16 TCAGCCTTGGTTTTCGTAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613570 5613571 5613571 upstr_intron -44 -0.7288136 TCAGCCTTGGTTTTCGTAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 336 535 1 0.8727111 0.9363555 0.9960472 0.9909679 0.9947903 0.9906509 NA NA 0.005209677 -0.1179398 0.9935075 0.9927206 NA -0.05636508 NA FALSE NA 0 -2.014 . intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 1/8 1 NA ATG T,C 6.589e-05 19:5613571 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant 0.091719 0.14861 0.03317 0.099367 0.5732503 0.0584137 0.9995825 TRUE 6.3358e-05 ENSE00001638909_029 ENSE00001638909 029 19 5613428 5613597 - 48 63 59 A C 5613587 409 11 TCAGCCTTGGGTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 5613575 5613576 5613576 upstr_intron -49 -0.8135593 TCAGCCTTGGGTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT mutant NA NA NA NA NA 782 587 0.9310083 0.995302 0.9631551 0.9960472 0.9909679 0.9947903 0.9906509 NA NA -0.06378207 0.004651052 0.9935075 0.9927206 NA -0.02956551 NA FALSE NA 0 0.147 . intron_variant&NMD_transcript_variant MODIFIER SAFB2 HGNC 21605 ENST00000591123 1/8 1 NA AAC A,C 8.237e-06 19:5613576 SAFB2 HGNC Symbol protein_coding 37047 ENSG00000130254 ENSE00003594754 intron_variant -0.213202 0.24851 0.14361 0.099367 0.3661872 0.0584137 0.9995825 TRUE 4.26141e-06 ENSE00001638909_BRK ENSE00001638909 BRK 19 5613428 5613597 - 48 63 59 A,G; T,T NA NA NA TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCTTGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGCCAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT 5613416 5613586 NA NA NA NA NA NA TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCTTGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGCCAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT TCAGCCTTGGTTTTCATAGCTCCAGCCTCCACGAAGTCATCTTCCATTTTGTTTTTCAGGTGGATGGGGAAGGATTTAAGAACACTTTGGAAACTTCATCGTTGAACTTCAAAGTAACTCCGGTAAGTTACCATCTGGTTCTGCATCGCTGGAAATGTTAATCGAGTGGT control 34 98 0 0 0 NA NA NA NA NA 0.9960472 0.9909679 0.9947903 0.9906509 -0.9960472 -0.9909679 NA NA 0.9935075 0.9927206 -0.9935075 NA NA NA TRUE NA NA NA NA NA SAFB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAFB2 NA NA NA ENSG00000130254 ENSE00003594754 NA NA NA NA NA NA NA 0.9995825 TRUE NA ENSE00001639156_000 ENSE00001639156 000 4 114153276 114153445 + 41 99 30 NA NA NA NA NA ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 NA NA NA NA NA NA ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT natural NA NA NA NA NA 3114 2731 0.9030926 0.9880665 0.9455796 NA NA 0.9030926 0.9880665 NA NA 0 0 NA 0.9455796 NA 0 NA FALSE NA NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00003645016 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001639156_002 ENSE00001639156 002 4 114153276 114153445 + 41 99 30 G A 114153292 1331 17 ACAAATGATTGAAGGTATCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232135 113232136 113232136 upstr_intron -25 -0.5853659 ACAAATGATTGAAGGTATCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 330 143 1 1 1 NA NA 0.9030926 0.9880665 NA NA 0.09690737 0.01193345 NA 0.9455796 NA 0.05442041 NA FALSE NA 0 -3.238 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000503271 5/30 1 NA TGT G,A 8.236e-06 4:113232136 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 intron_variant 0.105177 0.14817 0.00803 0.053691 0.5957261 0.0689855 1 TRUE 4.0654e-06 ENSE00001639156_003 ENSE00001639156 003 4 114153276 114153445 + 41 99 30 C T 114153311 1332 36 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTTCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232154 113232155 113232155 upstr_intron -6 -0.1219512 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTTCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 215 629 0.997289 0.9966013 0.9969452 NA NA 0.9030926 0.9880665 NA NA 0.09419639 0.008534778 NA 0.9455796 NA 0.05136558 NA FALSE NA 0 -0.085 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000503271 5/30 rs199939848 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 TCC C,T 7.413e-05 4:113232155 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 splice_region_variant 0.3206 0.23172 0.0446 0.078448 0.2340984 0.0784279 1 TRUE 6.50063e-05 ENSE00001639156_006 ENSE00001639156 006 4 114153276 114153445 + 41 99 30 C T 114153345 1335 70 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGTCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232188 113232189 113232189 exon 29 0.2929293 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGTCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 82 881 0.9989919 0.9992622 0.9991271 NA NA 0.9030926 0.9880665 NA NA 0.09589928 0.0111957 NA 0.9455796 NA 0.05354749 NA FALSE NA 1 7.778 . missense_variant MODERATE ANK2 HGNC 493 ENST00000503271 6/31 1 deleterious_low_confidence(0) probably_damaging(0.985) NA GCC C,T 8.236e-06 4:113232189 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 missense_variant 7.435673 0.99481 0.9922 0.615465 0.9990358 0 1 TRUE 8.12519e-06 ENSE00001639156_007 ENSE00001639156 007 4 114153276 114153445 + 41 99 30 A G 114153370 1336 95 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTGAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232213 113232214 113232214 exon -46 0.5454545 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTGAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 245 517 1 0.9987744 0.9993872 NA NA 0.9030926 0.9880665 NA NA 0.09690737 0.01070786 NA 0.9455796 NA 0.05380761 NA FALSE NA 0.03 -0.591 . synonymous_variant LOW ANK2 HGNC 493 ENST00000503271 6/31 1 NA TAA A,G 2.471e-05 4:113232214 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 synonymous_variant 0.442801 0.3022 0.03377 0.706298 0.6363044 0 1 TRUE 2.84363e-05 ENSE00001639156_008 ENSE00001639156 008 4 114153276 114153445 + 41 99 30 A T 114153373 1337 98 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAATTATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232216 113232217 113232217 exon -43 0.5757576 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAATTATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 224 870 1 0.9976924 0.9988462 NA NA 0.9030926 0.9880665 NA NA 0.09690737 0.009625856 NA 0.9455796 NA 0.05326661 NA FALSE NA 0.367 -0.142 . missense_variant MODERATE ANK2 HGNC 493 ENST00000503271 6/31 1 deleterious_low_confidence(0) probably_damaging(0.947) NA AAT A,T 8.236e-06 4:113232217 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 missense_variant 3.724921 0.96985 0.45621 0.706298 0.9926005 0 1 TRUE 2.84354e-05 ENSE00001639156_009 ENSE00001639156 009 4 114153276 114153445 + 41 99 30 C G 114153393 1338 118 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGGTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232236 113232237 113232237 exon -23 0.7777778 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGGTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 309 799 1 0.996246 0.998123 NA NA 0.9030926 0.9880665 NA NA 0.09690737 0.008179501 NA 0.9455796 NA 0.05254343 NA FALSE NA 1 4.809 . missense_variant MODERATE ANK2 HGNC 493 ENST00000503271 6/31 1 tolerated_low_confidence(0.16) benign(0.305) NA GCT C,G 8.236e-06 4:113232237 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 missense_variant 3.789692 0.98977 0.92864 0.706298 0.9977852 0 1 TRUE 1.21909e-05 ENSE00001639156_010 ENSE00001639156 010 4 114153276 114153445 + 41 99 30 G C 114153407 1339 132 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTCCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232250 113232251 113232251 exon -9 0.9191919 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTCCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 122 839 1 0.9975074 0.9987537 NA NA 0.9030926 0.9880665 NA NA 0.09690737 0.009440871 NA 0.9455796 NA 0.05317412 NA FALSE NA 1 9.786 . missense_variant MODERATE ANK2 HGNC 493 ENST00000503271 6/31 1 tolerated_low_confidence(0.09) possibly_damaging(0.613) NA TGC G,C 8.236e-06 4:113232251 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 missense_variant 6.638103 0.99515 0.99525 0.706298 0.9976338 0 1 TRUE 8.12916e-06 ENSE00001639156_011 ENSE00001639156 011 4 114153276 114153445 + 41 99 30 A G 114153410 1340 135 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTGCAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232253 113232254 113232254 exon -6 0.9494949 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTGCAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 224 674 1 1 1 NA NA 0.9030926 0.9880665 NA NA 0.09690737 0.01193345 NA 0.9455796 NA 0.05442041 NA FALSE NA 1 9.261 . missense_variant MODERATE ANK2 HGNC 493 ENST00000503271 6/31 1 deleterious_low_confidence(0) probably_damaging(0.977) NA TAC A,G 8.236e-06 4:113232254 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 missense_variant 5.996115 0.9931 0.99406 0.706298 0.9979313 0 1 TRUE 4.06425e-06 ENSE00001639156_013 ENSE00001639156 013 4 114153276 114153445 + 41 99 30 A G 114153421 1342 146 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGGCTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232264 113232265 113232265 downstr_intron 6 1.206897 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGGCTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 14 594 0.9542736 0.9635497 0.9589116 NA NA 0.9030926 0.9880665 NA NA 0.05118093 -0.02451682 NA 0.9455796 NA 0.01333205 NA FALSE NA 0.003 0.141 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000503271 6/30 1 NA GAC A,G 8.236e-06 4:113232265 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 splice_region_variant 0.673128 0.34565 0.04892 0.053691 0.7358612 0.294366 1 TRUE 4.06573e-06 ENSE00001639156_014 ENSE00001639156 014 4 114153276 114153445 + 41 99 30 T C 114153423 1343 148 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACCGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 113232266 113232267 113232267 downstr_intron 8 1.275862 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACCGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 18 369 0.8926424 0.9823346 0.9374885 NA NA 0.9030926 0.9880665 NA NA -0.01045025 -0.005731994 NA 0.9455796 NA -0.008091123 NA FALSE NA 0.001 0.622 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000503271 6/30 1 NA CTG T,C 1.647e-05 4:113232267 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 splice_region_variant 0.340846 0.19427 0.04663 0.053691 0.8046179 0.15744 1 TRUE 8.13312e-06 ENSE00001639156_015 ENSE00001639156 015 4 114153276 114153445 + 41 99 30 A C 114153435 1344 160 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAACGCCTTGAATT 113232119 113232289 113232278 113232279 113232279 downstr_intron 20 1.689655 ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAACGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT mutant NA NA NA NA NA 80 248 1 0.8799207 0.9399603 NA NA 0.9030926 0.9880665 NA NA 0.09690737 -0.1081459 NA 0.9455796 NA -0.00561926 NA FALSE NA 0 0.056 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000503271 6/30 1 NA AAG A,C 8.237e-06 4:113232279 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003645016 intron_variant -0.462882 0.13702 0.01059 0.053691 0.4286227 0.105013 1 TRUE 4.06967e-06 ENSE00001639156_BRK ENSE00001639156 BRK 4 114153276 114153445 + 41 99 30 A,G; T,T NA NA NA ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCTTAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGCCAAGACTGTCAGCCCTAAAGCCTTGAATT 113232119 113232289 NA NA NA NA NA NA ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCTTAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGCCAAGACTGTCAGCCCTAAAGCCTTGAATT ACAAATGATTGAAGGTGTCTTTTTTTATTGCTTGTCCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAGGTAAGACTGTCAGCCCTAAAGCCTTGAATT control NA NA NA NA NA 464 282 0.007214084 0 0.003607042 NA NA 0.9030926 0.9880665 NA NA -0.8958786 -0.9880665 NA 0.9455796 NA -0.9419725 NA TRUE NA NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00003645016 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001639453_000 ENSE00001639453 000 12 52632422 52632591 + 42 96 32 NA NA NA NA NA TAAGACATGTCACCCAGCTCCATGGTCCTCACCGTCTCATTGAGGGTCCTGAGGAAGTTGATCTCATCATTCAGGGCATCCACCTTGGCCTCCAGCTCCACCTTGCTCATGTAGGCAGCATCCACATCCTGGGGGTTGGGGCAAGATGGGGCAGAGGGAGACCATGTCCT 52238637 52238807 NA NA NA NA NA NA AGGACATGGTCTCCCTCTGCCCCATCTTGCCCCAACCCCCAGGATGTGGATGCTGCCTACATGAGCAAGGTGGAGCTGGAGGCCAAGGTGGATGCCCTGAATGATGAGATCAACTTCCTCAGGACCCTCAATGAGACGGTGAGGACCATGGAGCTGGGTGACATGTCTTA AGGACATGGTCTCCCTCTGCCCCATCTTGCCCCAACCCCCAGGATGTGGATGCTGCCTACATGAGCAAGGTGGAGCTGGAGGCCAAGGTGGATGCCCTGAATGATGAGATCAACTTCCTCAGGACCCTCAATGAGACGGTGAGGACCATGGAGCTGGGTGACATGTCTTA natural NA NA NA NA NA 64 11 0.7020761 0.8224528 0.7622645 NA NA 0.7020761 0.8224528 NA NA 0 0 NA 0.7622645 NA 0 NA FALSE NA NA NA NA NA NA KRT7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT7 NA NA NA ENSG00000135480 ENSE00003688832 NA NA NA NA NA NA NA 2.78645e-09 FALSE NA ENSE00001639453_007 ENSE00001639453 007 12 52632422 52632591 + 42 96 32 G C 52632502 1668 81 TAAGACATGTCACCCAGCTCCATGGTCCTCACCGTCTCATTGAGGGTCCTGAGGAAGTTGATCTCATCATTCAGGGCATCCACCTTGGCGTCCAGCTCCACCTTGCTCATGTAGGCAGCATCCACATCCTGGGGGTTGGGGCAAGATGGGGCAGAGGGAGACCATGTCCT 52238637 52238807 52238717 52238718 52238718 exon 39 0.40625 AGGACATGGTCTCCCTCTGCCCCATCTTGCCCCAACCCCCAGGATGTGGATGCTGCCTACATGAGCAAGGTGGAGCTGGACGCCAAGGTGGATGCCCTGAATGATGAGATCAACTTCCTCAGGACCCTCAATGAGACGGTGAGGACCATGGAGCTGGGTGACATGTCTTA AGGACATGGTCTCCCTCTGCCCCATCTTGCCCCAACCCCCAGGATGTGGATGCTGCCTACATGAGCAAGGTGGAGCTGGAGGCCAAGGTGGATGCCCTGAATGATGAGATCAACTTCCTCAGGACCCTCAATGAGACGGTGAGGACCATGGAGCTGGGTGACATGTCTTA mutant NA NA NA NA NA 20 27 1 1 1 NA NA 0.7020761 0.8224528 NA NA 0.2979239 0.1775472 NA 0.7622645 NA 0.2377355 NA FALSE NA 1 1.116 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KRT7 HGNC 6445 ENST00000547613 4/5 1 NA AGG G,C 8.236e-06 12:52238718 KRT7 HGNC Symbol protein_coding 19666 ENSG00000135480 ENSE00003688832 missense_variant 4.46072 0.94667 0.86576 0.67177 0.997403 0 2.78645e-09 FALSE NA ENSE00001639529_000 ENSE00001639529 000 1 86304215 86304384 - 53 54 63 NA NA NA NA NA CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 NA NA NA NA NA NA CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT natural 26 19 0.9996765 0.9918064 0.9957415 5979 4533 0.9934969 0.9953205 0.9944087 0.9996765 0.9918064 0.9934969 0.9953205 0 0 0 0 0.9957415 0.9944087 0 0 0 FALSE FALSE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003654913 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001639529_001 ENSE00001639529 001 1 86304215 86304384 - 53 54 63 C A 86304226 2237 159 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGTTTCTCTGTGTT 85838531 85838701 85838542 85838543 85838543 downstr_intron 42 1.807692 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGTTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 2460 809 0.8955733 0.9997573 0.9476653 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.09792359 0.004436847 0.9957415 0.9944087 NA -0.04674337 NA FALSE NA 0 -1.86 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 43/57 1 NA ACC C,A 2.484e-05 1:85838543 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.382871 0.13055 0.0665 0.078448 0.3317556 0.0641115 1.063411e-25 FALSE 1.23109e-05 ENSE00001639529_002 ENSE00001639529 002 1 86304215 86304384 - 53 54 63 T A 86304232 2238 153 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTATATAGGGTTCTCTGTGTT 85838531 85838701 85838548 85838549 85838549 downstr_intron 36 1.692308 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTATATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 132 1599 0.9942494 0.9994951 0.9968723 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.000752532 0.004174654 0.9957415 0.9944087 NA 0.002463593 NA FALSE NA 0.002 0.849 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 43/57 rs557670655 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TTT T,A 8.279e-06 1:85838549 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.524103 0.35121 0.3588 0.078448 0.5862118 0.873666 1.063411e-25 FALSE 4.09799e-06 ENSE00001639529_004 ENSE00001639529 004 1 86304215 86304384 - 53 54 63 A T 86304235 2240 150 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATATAAATAGGGTTCTCTGTGTT 85838531 85838701 85838551 85838552 85838552 downstr_intron 33 1.634615 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATATAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 803 405 0.9934059 1 0.996703 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -9.098973e-05 0.004679514 0.9957415 0.9944087 NA 0.002294262 NA FALSE NA 0 0.011 rs180972612 intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 43/57 rs180972612 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 AAA A,T 8.279e-06 1:85838552 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant -0.067731 0.26615 0.27229 0.078448 0.4962674 0.0641115 1.063411e-25 FALSE 4.09085e-06 ENSE00001639529_005 ENSE00001639529 005 1 86304215 86304384 - 53 54 63 C A 86304239 2241 146 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATTAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838555 85838556 85838556 downstr_intron 29 1.557692 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATTAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 291 235 0.9985771 1 0.9992886 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.005080233 0.004679514 0.9957415 0.9944087 NA 0.004879873 NA FALSE NA 0 -0.4 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 43/57 1 NA TCA C,A 8.279e-06 1:85838556 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.005234 0.21691 0.06575 0.078448 0.3365713 0.0641115 1.063411e-25 FALSE 8.19679e-06 ENSE00001639529_006 ENSE00001639529 006 1 86304215 86304384 - 53 54 63 A G 86304243 2242 142 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACCAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838559 85838560 85838560 downstr_intron 25 1.480769 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACCAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 1510 202 0.8509026 0.9848257 0.9178642 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.1425943 -0.01049478 0.9957415 0.9944087 NA -0.07654453 NA FALSE NA 0.003 1.462 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 43/57 1 NA TAG A,G 8.279e-06 1:85838560 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.164993 0.33995 0.38435 0.078448 0.5638222 0.873666 1.063411e-25 FALSE 4.08103e-06 ENSE00001639529_007 ENSE00001639529 007 1 86304215 86304384 - 53 54 63 G C 86304244 2243 141 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTAGTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838560 85838561 85838561 downstr_intron 24 1.461538 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTAGTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 999 363 0.9845953 0.9834702 0.9840327 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.00890166 -0.01185028 0.9957415 0.9944087 NA -0.01037597 NA FALSE NA 0.001 0.436 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 43/57 1 NA AGT G,C 8.279e-06 1:85838561 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant -0.187306 0.20464 0.23748 0.078448 0.3869334 0.0641115 1.063411e-25 FALSE 4.08103e-06 ENSE00001639529_008 ENSE00001639529 008 1 86304215 86304384 - 53 54 63 T G 86304245 2244 140 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTCCTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838561 85838562 85838562 downstr_intron 23 1.442308 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTCCTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 3027 106 0.8687462 1 0.9343731 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.1247507 0.004679514 0.9957415 0.9944087 NA -0.06003561 NA FALSE NA 0 -0.999 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 43/57 rs377463158 1 NA G:0 G:0.0001 GTA T,G 8.279e-06 1:85838562 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.050505 0.16938 0.06114 0.078448 0.4987452 0.0641115 1.063411e-25 FALSE 4.07269e-06 ENSE00001639529_009 ENSE00001639529 009 1 86304215 86304384 - 53 54 63 A G 86304266 2245 119 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGCAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838582 85838583 85838583 downstr_intron 2 1.038462 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGCAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant 208 178 0 0 0 205 395 0.06526143 0.001281015 0.03327122 0.9996765 0.9918064 0.9934969 0.9953205 -0.9996765 -0.9918064 -0.9282355 -0.9940395 0.9957415 0.9944087 -0.9957415 -0.9611375 0.03460398 TRUE TRUE 1 6.521 . splice_donor_variant HIGH COL24A1 HGNC 20821 ENST00000436319 43/57 COSM3934839 1 NA HC TAC A,G 8.277e-06 1:85838583 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 splice_donor_variant 4.956313 0.93955 0.95346 0.162113 0.9932738 0.972954 1.063411e-25 FALSE 4.06392e-06 ENSE00001639529_010 ENSE00001639529 010 1 86304215 86304384 - 53 54 63 C T 86304268 2246 117 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAAGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838584 85838585 85838585 exon -1 1 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAAGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant 94 93 0 0 0 1244 163 0.07727163 0.1412318 0.1092517 0.9996765 0.9918064 0.9934969 0.9953205 -0.9996765 -0.9918064 -0.9162253 -0.8540887 0.9957415 0.9944087 -0.9957415 -0.885157 0.1105845 TRUE TRUE 1 5.486 . splice_region_variant&synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 43/58 1 NA CCT C,T 2.483e-05 1:85838585 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 splice_region_variant 2.266659 0.94445 0.93722 0.615465 0.9021799 0 1.063411e-25 FALSE 1.62537e-05 ENSE00001639529_011 ENSE00001639529 011 1 86304215 86304384 - 53 54 63 A G 86304273 2247 112 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGACATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838589 85838590 85838590 exon -6 0.9074074 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGACATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 56 1399 0.804636 0.9979612 0.9012986 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.1888609 0.002640751 0.9957415 0.9944087 NA -0.09311006 NA FALSE NA 1 6.521 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 43/58 1 probably_damaging(0.986) NA TAT A,G 8.277e-06 1:85838590 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 missense_variant 4.816863 0.93955 0.95346 0.615465 0.9735667 0 1.063411e-25 FALSE 2.8443e-05 ENSE00001639529_012 ENSE00001639529 012 1 86304215 86304384 - 53 54 63 C T 86304282 2248 103 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAACAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838598 85838599 85838599 exon -15 0.7407407 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAACAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 193 146 1 1 1 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.006503085 0.004679514 0.9957415 0.9944087 NA 0.005591299 NA FALSE NA 0.531 2.21 rs183769998 missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 43/58 rs183769998 1 benign(0.006) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0003 T:0.0004 GCT C,T 0.0001821 1:85838599 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 missense_variant 3.727107 0.93931 0.8743 0.615465 0.9450635 0 1.063411e-25 FALSE 0.000195008 ENSE00001639529_013 ENSE00001639529 013 1 86304215 86304384 - 53 54 63 A G 86304286 2249 99 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCCGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838602 85838603 85838603 exon -19 0.6666667 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCCGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 548 393 1 0.9963608 0.9981804 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.006503085 0.001040283 0.9957415 0.9944087 NA 0.003771684 NA FALSE NA 0.985 0.041 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 43/58 rs368067260 1 NA G:0 G:0.0001 CAG A,G 8.278e-06 1:85838603 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 synonymous_variant 0.494125 0.46441 0.4628 0.615465 0.7568525 0 1.063411e-25 FALSE 4.06293e-06 ENSE00001639529_014 ENSE00001639529 014 1 86304215 86304384 - 53 54 63 C A 86304309 2250 76 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGTACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838625 85838626 85838626 exon 13 0.2407407 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGTACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 30 874 1 0.9999564 0.9999782 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.006503085 0.004635959 0.9957415 0.9944087 NA 0.005569522 NA FALSE NA 0.998 2.933 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:85838626 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 missense_variant 4.801888 0.90762 0.89534 0.706298 0.984268 0 1.063411e-25 FALSE 4.06326e-06 ENSE00001639529_015 ENSE00001639529 015 1 86304215 86304384 - 53 54 63 C T 86304309 2251 76 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGAACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838625 85838626 85838626 exon 13 0.2407407 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGAACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 1201 1006 0.9963881 0.9648271 0.9806076 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.002891145 -0.0304934 0.9957415 0.9944087 NA -0.01380113 NA FALSE NA 0.998 2.933 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003654913 missense_variant 3.358541 0.8999 0.84713 0.706298 0.9780014 0 1.063411e-25 FALSE 1.6253e-05 ENSE00001639529_016 ENSE00001639529 016 1 86304215 86304384 - 53 54 63 C G 86304311 2252 74 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGCGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838627 85838628 85838628 exon 11 0.2037037 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGCGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 270 694 0.8315469 0.9977195 0.9146332 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.16195 0.002399029 0.9957415 0.9944087 NA -0.07977547 NA FALSE NA 1 5.486 rs190550059 missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 43/58 rs190550059 1 probably_damaging(1) G:0.0008 G:0 G:0.0058 NA G:0 G:0 G:0 CCC C,G 0.0001656 1:85838628 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 missense_variant 4.805784 0.95327 0.93017 0.706298 0.9972825 0 1.063411e-25 FALSE 0.000690726 ENSE00001639529_017 ENSE00001639529 017 1 86304215 86304384 - 53 54 63 C T 86304313 2253 72 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTAGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838629 85838630 85838630 exon 9 0.1666667 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTAGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 520 1928 0.983016 0.9692023 0.9761092 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.01048088 -0.02611818 0.9957415 0.9944087 NA -0.01829953 NA FALSE NA 0.002 -0.284 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 43/58 1 NA CCA C,T 1.656e-05 1:85838630 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 synonymous_variant 1.567487 0.4862 0.05531 0.706298 0.6166252 0 1.063411e-25 FALSE 8.12552e-06 ENSE00001639529_018 ENSE00001639529 018 1 86304215 86304384 - 53 54 63 C T 86304315 2254 70 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAATGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838631 85838632 85838632 exon 7 0.1296296 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAATGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 613 1209 0.9912941 0.9887798 0.990037 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.002202792 -0.006540641 0.9957415 0.9944087 NA -0.004371717 NA FALSE NA 0 -0.477 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 43/58 1 benign(0.007) NA ACT C,T 8.278e-06 1:85838632 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 missense_variant 1.451866 0.44608 0.01959 0.615465 0.8124684 0 1.063411e-25 FALSE 4.06309e-06 ENSE00001639529_019 ENSE00001639529 019 1 86304215 86304384 - 53 54 63 G A 86304317 2255 68 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCTAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838633 85838634 85838634 exon 5 0.09259259 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCTAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 468 1550 0.7963565 0.7309005 0.7636285 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.1971405 -0.26442 0.9957415 0.9944087 NA -0.2307802 NA FALSE NA 0.979 3.203 rs147006450 missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 43/58 rs147006450 1 benign(0.035) A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 TGG G,A 0.0002649 1:85838634 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 missense_variant 2.653058 0.91654 0.84857 0.706298 0.9076876 0 1.063411e-25 FALSE 0.000227559 ENSE00001639529_020 ENSE00001639529 020 1 86304215 86304384 - 53 54 63 A G 86304326 2256 59 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCCGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838642 85838643 85838643 upstr_intron -5 -0.06349206 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCCGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 338 712 0.9636822 0.9957008 0.9796915 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.02981472 0.0003802782 0.9957415 0.9944087 NA -0.01471722 NA FALSE NA 0.143 1.588 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA CAG A,G 8.277e-06 1:85838643 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 splice_region_variant 1.149837 0.33825 0.48832 0.053691 0.7784985 0.398294 1.063411e-25 FALSE 4.06435e-06 ENSE00001639529_021 ENSE00001639529 021 1 86304215 86304384 - 53 54 63 C T 86304331 2257 54 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGATCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838647 85838648 85838648 upstr_intron -10 -0.1428571 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGATCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 389 977 1 0.8529172 0.9264586 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.006503085 -0.1424033 0.9957415 0.9944087 NA -0.06795011 NA FALSE NA 0.1 -0.046 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 rs538754320 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACC C,T 8.277e-06 1:85838648 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 1.981604 0.28291 0.15722 0.053691 0.674705 0.37856 1.063411e-25 FALSE 8.13101e-06 ENSE00001639529_022 ENSE00001639529 022 1 86304215 86304384 - 53 54 63 A G 86304340 2258 45 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTCTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838656 85838657 85838657 upstr_intron -19 -0.2857143 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTCTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 2963 1019 0.9948021 0.9998448 0.9973234 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.001305151 0.004524279 0.9957415 0.9944087 NA 0.002914715 NA FALSE NA 0.033 1.341 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA AAA A,G 8.277e-06 1:85838657 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 1.784125 0.54669 0.35547 0.053691 0.8848644 0.286722 1.063411e-25 FALSE 8.14657e-06 ENSE00001639529_023 ENSE00001639529 023 1 86304215 86304384 - 53 54 63 C A 86304343 2259 42 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTTTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838659 85838660 85838660 upstr_intron -22 -0.3333333 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTTTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 1465 881 0.9988142 0.9961397 0.997477 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.00531725 0.0008192627 0.9957415 0.9944087 NA 0.003068256 NA FALSE NA 0 -1.353 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA ACA C,A 2.483e-05 1:85838660 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 1.68573 0.24244 0.04854 0.053691 0.8179541 0.286722 1.063411e-25 FALSE 3.26107e-05 ENSE00001639529_024 ENSE00001639529 024 1 86304215 86304384 - 53 54 63 A T 86304344 2260 41 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATAGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838660 85838661 85838661 upstr_intron -23 -0.3492063 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATAGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant 101 229 0.85 0.85 0.85 1257 1586 0.861779 0.8475201 0.8546496 0.9996765 0.9918064 0.9934969 0.9953205 -0.1496765 -0.1418064 -0.1317179 -0.1478003 0.9957415 0.9944087 -0.1457415 -0.1397591 0.005982353 FALSE FALSE 0.001 0.751 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:85838661 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 1.320017 0.33726 0.1419 0.053691 0.895887 0.357406 1.063411e-25 FALSE 1.22627e-05 ENSE00001639529_025 ENSE00001639529 025 1 86304215 86304384 - 53 54 63 A C 86304344 2261 41 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATGGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838660 85838661 85838661 upstr_intron -23 -0.3492063 CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATGGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 805 698 0.9610168 0.9862599 0.9736384 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.03248012 -0.009060571 0.9957415 0.9944087 NA -0.02077034 NA FALSE NA 0.001 0.751 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003654913 intron_variant 1.238741 0.36565 0.16959 0.053691 0.8700178 0.357406 1.063411e-25 FALSE 1.22627e-05 ENSE00001639529_026 ENSE00001639529 026 1 86304215 86304384 - 53 54 63 T C 86304352 2262 33 CCTGCATTCGCATATACTTTGATCCAGCTGTAGAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838668 85838669 85838669 upstr_intron -31 -0.4761905 CCTGCATTCGCATATACTTTGATCCAGCTGTAGAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 1538 1484 0.9680277 0.9868433 0.9774355 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.02546923 -0.008477228 0.9957415 0.9944087 NA -0.01697323 NA FALSE NA 0 0.203 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA TTT T,C 8.276e-06 1:85838669 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 1.071498 0.83343 0.1402 0.053691 0.797031 0.288603 1.063411e-25 FALSE NA ENSE00001639529_027 ENSE00001639529 027 1 86304215 86304384 - 53 54 63 C G 86304355 2263 30 CCTGCATTCGCATATACTTTGATCCAGCTCTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838671 85838672 85838672 upstr_intron -34 -0.5238095 CCTGCATTCGCATATACTTTGATCCAGCTCTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 2153 798 0.751299 0.8656499 0.8084745 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.2421979 -0.1296706 0.9957415 0.9944087 NA -0.1859342 NA FALSE NA 0 0.035 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA ACA C,G 8.277e-06 1:85838672 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.994924 0.9052 0.29575 0.053691 0.7342951 0.179679 1.063411e-25 FALSE 4.11414e-06 ENSE00001639529_028 ENSE00001639529 028 1 86304215 86304384 - 53 54 63 G A 86304360 2264 25 CCTGCATTCGCATATACTTTGATCTAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838676 85838677 85838677 upstr_intron -39 -0.6031746 CCTGCATTCGCATATACTTTGATCTAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 721 331 0.9278909 1 0.9639454 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.06560602 0.004679514 0.9957415 0.9944087 NA -0.03046325 NA FALSE NA 0.89 1.197 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA TGG G,A 1.655e-05 1:85838677 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.93702 0.82889 0.60076 0.053691 0.7694465 0.136394 1.063411e-25 FALSE 2.07636e-05 ENSE00001639529_029 ENSE00001639529 029 1 86304215 86304384 - 53 54 63 T C 86304369 2265 16 CCTGCATTCGCATATGCTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838685 85838686 85838686 upstr_intron -48 -0.7460317 CCTGCATTCGCATATGCTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 978 66 0.9937241 0.9975961 0.9956601 0.9996765 0.9918064 0.9934969 0.9953205 NA NA 0.0002271457 0.002275657 0.9957415 0.9944087 NA 0.001251401 NA FALSE NA 0.001 0.139 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA GTA T,C 4.138e-05 1:85838686 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.042163 0.22052 0.02984 0.053691 0.6002702 0.0821837 1.063411e-25 FALSE 4.61568e-05 ENSE00001639529_030 ENSE00001639529 030 1 86304215 86304384 - 53 54 63 T A 86304373 2266 12 CCTGCATTCGCTTATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 85838689 85838690 85838690 upstr_intron -52 -0.8095238 CCTGCATTCGCTTATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT mutant NA NA NA NA NA 451 792 0.9210897 0.997956 0.9595228 0.9996765 0.9918064 0.9934969 0.9953205 NA NA -0.07240719 0.002635466 0.9957415 0.9944087 NA -0.03488586 NA FALSE NA 0 -0.162 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 rs570624915 1 NA ATG T,A 8.276e-06 1:85838690 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003654913 intron_variant 0.151575 0.16289 0.02354 0.053691 0.3538677 0.0821837 1.063411e-25 FALSE 1.2557e-05 ENSE00001639529_BRK ENSE00001639529 BRK 1 86304215 86304384 - 53 54 63 A,G; T,T NA NA NA CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTTTGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGCCAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT 85838531 85838701 NA NA NA NA NA NA CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTTTGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGCCAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT CCTGCATTCGCATATACTTTGATCCAGCTGTAAAACTGATTGTTTTGTGTGTGGTCTCTGTAGGGTCCAGTGGGGGACCAAGGAGAGAGAGGAGAGCCTGGAGCAGAGGGATATAAGGTAATTGCAAGTTATACCCCTTACTAATGAATTTAAATAGGGTTCTCTGTGTT control 94 171 0 0 0 42 262 0 0 0 0.9996765 0.9918064 0.9934969 0.9953205 -0.9996765 -0.9918064 -0.9934969 -0.9953205 0.9957415 0.9944087 -0.9957415 -0.9944087 0.001332758 TRUE TRUE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003654913 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001639984_000 ENSE00001639984 000 18 5395578 5395747 - 30 99 41 NA NA NA NA NA AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 NA NA NA NA NA NA GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT natural 1141 1477 0.8458414 0.8327787 0.83931 2727 1886 0.921451 0.9026563 0.9120536 0.8458414 0.8327787 0.921451 0.9026563 0 0 0 0 0.83931 0.9120536 0 0 0 FALSE FALSE NA NA NA NA NA EPB41L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L3 NA NA NA ENSG00000082397 ENSE00003572917 NA NA NA NA NA NA NA 0.02927839 FALSE NA ENSE00001639984_001 ENSE00001639984 001 18 5395578 5395747 - 30 99 41 C T 5395589 69 159 AATCCTCTTCTTGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395589 5395590 5395590 downstr_intron 19 1.655172 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCAAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 82 80 0.7873998 0.85 0.8186999 170 882 0.9716238 0.9551626 0.9633932 0.8458414 0.8327787 0.921451 0.9026563 -0.05844159 0.0172213 0.05017281 0.05250626 0.83931 0.9120536 -0.02061014 0.05133953 0.07194967 FALSE FALSE 0 -0.497 . intron_variant MODIFIER EPB41L3 HGNC 3380 ENST00000342933 20/21 1 NA TCG C,T 8.236e-06 18:5395590 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 intron_variant -0.495772 0.1431 0.1192 0.099367 0.41119 0.0532412 0.02927839 FALSE 1.22284e-05 ENSE00001639984_002 ENSE00001639984 002 18 5395578 5395747 - 30 99 41 G A 5395590 70 158 AATCCTCTTCTCAGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395590 5395591 5395591 downstr_intron 18 1.62069 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACTGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 60 110 0.8408102 0.85 0.8454051 188 98 0.9481869 0.9450197 0.9466033 0.8458414 0.8327787 0.921451 0.9026563 -0.005031191 0.0172213 0.02673589 0.0423634 0.83931 0.9120536 0.006095056 0.03454965 0.02845459 FALSE FALSE 0 -1.649 . intron_variant MODIFIER EPB41L3 HGNC 3380 ENST00000342933 20/21 1 NA CGG G,A 4.942e-05 18:5395591 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 intron_variant -0.074335 0.13842 0.0662 0.099367 0.3479164 0.0532412 0.02927839 FALSE 3.25863e-05 ENSE00001639984_003 ENSE00001639984 003 18 5395578 5395747 - 30 99 41 G A 5395591 71 157 AATCCTCTTCTCGATTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395591 5395592 5395592 downstr_intron 17 1.586207 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAATCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 102 131 0.85 0.85 0.85 1287 462 0.9638434 0.9503825 0.9571129 0.8458414 0.8327787 0.921451 0.9026563 0.004158624 0.0172213 0.04239243 0.04772616 0.83931 0.9120536 0.01068996 0.04505929 0.03436933 FALSE FALSE 0 0.046 . intron_variant MODIFIER EPB41L3 HGNC 3380 ENST00000342933 20/21 rs200995918 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0039 A:0 GGT G,A 0.0004118 18:5395592 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 intron_variant -0.00889 0.19821 0.1607 0.099367 0.3625259 0.0532412 0.02927839 FALSE 0.00030534 ENSE00001639984_004 ENSE00001639984 004 18 5395578 5395747 - 30 99 41 T C 5395608 72 140 AATCCTCTTCTCGGTTCTCACTCCACTTACCTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395608 5395609 5395609 exon -1 1 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAGGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 706 476 0.9971069 0.9730704 0.9850886 0.8458414 0.8327787 0.921451 0.9026563 NA NA 0.07565588 0.07041406 0.83931 0.9120536 NA 0.07303497 NA FALSE NA 1 3.782 . splice_region_variant&synonymous_variant LOW EPB41L3 HGNC 3380 ENST00000342933 20/22 rs200474691 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTT T,C 4.942e-05 18:5395609 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 splice_region_variant 1.795942 0.98583 0.8921 0.706298 0.9150243 0 0.02927839 FALSE 3.66068e-05 ENSE00001639984_005 ENSE00001639984 005 18 5395578 5395747 - 30 99 41 T C 5395610 73 138 AATCCTCTTCTCGGTTCTCACTCCACTTACTTCGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395610 5395611 5395611 exon -3 0.979798 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCGAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 586 834 0.9926092 0.9716006 0.9821049 0.8458414 0.8327787 0.921451 0.9026563 NA NA 0.0711582 0.06894434 0.83931 0.9120536 NA 0.07005127 NA FALSE NA 1 7.964 . missense_variant&splice_region_variant MODERATE EPB41L3 HGNC 3380 ENST00000342933 20/22 1 deleterious(0.01) benign(0.181) NA TTG T,C 8.236e-06 18:5395611 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 missense_variant 5.078246 0.99433 0.99063 0.706298 0.9989803 0 0.02927839 FALSE 4.06623e-06 ENSE00001639984_006 ENSE00001639984 006 18 5395578 5395747 - 30 99 41 G A 5395617 74 131 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATATGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395617 5395618 5395618 exon -10 0.9090909 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCATATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 167 123 0.85 0.85 0.85 250 383 0.8594101 0.9250405 0.8922253 0.8458414 0.8327787 0.921451 0.9026563 0.004158624 0.0172213 -0.06204092 0.02238419 0.83931 0.9120536 0.01068996 -0.01982836 0.03051833 FALSE FALSE 0.962 0.364 . synonymous_variant LOW EPB41L3 HGNC 3380 ENST00000342933 20/22 rs202000684 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 TGT G,A 7.413e-05 18:5395618 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 synonymous_variant 1.291111 0.97508 0.85736 0.706298 0.7179239 0 0.02927839 FALSE 9.75697e-05 ENSE00001639984_007 ENSE00001639984 007 18 5395578 5395747 - 30 99 41 C T 5395620 75 128 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGTGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395620 5395621 5395621 exon -13 0.8787879 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACACACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 45 14 0.02893761 0 0.0144688 521 836 0.6592698 0.8006047 0.7299372 0.8458414 0.8327787 0.921451 0.9026563 -0.8169038 -0.8327787 -0.2621812 -0.1020516 0.83931 0.9120536 -0.8248412 -0.1821164 0.6427248 FALSE TRUE 0.323 -0.304 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:5395621 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 synonymous_variant 2.663066 0.96224 0.19585 0.706298 0.7690538 0 0.02927839 FALSE 2.0326e-05 ENSE00001639984_008 ENSE00001639984 008 18 5395578 5395747 - 30 99 41 C A 5395620 76 128 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGAGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395620 5395621 5395621 exon -13 0.8787879 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACTCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 481 930 0.8026767 0.8006988 0.8016877 0.8458414 0.8327787 0.921451 0.9026563 NA NA -0.1187743 -0.1019575 0.83931 0.9120536 NA -0.1103659 NA FALSE NA 0.323 -0.304 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L3 NA NA NA ENSG00000082397 ENSE00003572917 synonymous_variant 3.010044 0.96863 0.45142 0.706298 0.75274 0 0.02927839 FALSE 4.06521e-06 ENSE00001639984_009 ENSE00001639984 009 18 5395578 5395747 - 30 99 41 G A 5395621 77 127 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCATAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395621 5395622 5395622 exon -14 0.8686869 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTATGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 1151 47 0.8013457 0.8053512 0.8033484 0.8458414 0.8327787 0.921451 0.9026563 NA NA -0.1201053 -0.09730511 0.83931 0.9120536 NA -0.1087052 NA FALSE NA 1 9.773 NA NA NA EPB41L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:5395622 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 missense_variant 7.640065 0.996 0.99479 0.706298 0.9993119 0 0.02927839 FALSE 1.21924e-05 ENSE00001639984_011 ENSE00001639984 011 18 5395578 5395747 - 30 99 41 G T 5395627 79 121 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGTTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395627 5395628 5395628 exon -20 0.8080808 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCAACACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 56 104 0.8301726 0.85 0.8400863 223 63 0.860654 0.8 0.830327 0.8458414 0.8327787 0.921451 0.9026563 -0.01566876 0.0172213 -0.06079694 -0.1026563 0.83931 0.9120536 0.0007762701 -0.08172662 0.08250289 FALSE FALSE 1 7.972 . missense_variant MODERATE EPB41L3 HGNC 3380 ENST00000342933 20/22 1 deleterious(0) probably_damaging(0.962) NA GGT G,T 8.236e-06 18:5395628 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 missense_variant 6.749454 0.99333 0.99155 0.706298 0.9939011 0 0.02927839 FALSE 1.21897e-05 ENSE00001639984_013 ENSE00001639984 013 18 5395578 5395747 - 30 99 41 T G 5395650 81 98 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGAGGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395650 5395651 5395651 exon -43 0.5757576 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACCTCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 64 36 0.9328482 0.9453616 0.9391049 NA NA NA NA NA 0.8458414 0.8327787 0.921451 0.9026563 0.08700679 0.1125829 NA NA 0.83931 0.9120536 0.09979484 NA NA NA FALSE 0.009 -1.09 . synonymous_variant LOW EPB41L3 HGNC 3380 ENST00000342933 20/22 1 NA ATG T,G 8.236e-06 18:5395651 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 synonymous_variant 0.993781 0.39832 0.17176 0.706298 0.5596718 0 0.02927839 FALSE 4.06227e-06 ENSE00001639984_015 ENSE00001639984 015 18 5395578 5395747 - 30 99 41 T C 5395658 83 90 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGCCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395658 5395659 5395659 exon 49 0.4949495 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGGCGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 37 81 0.85 0.85 0.85 NA NA NA NA NA 0.8458414 0.8327787 0.921451 0.9026563 0.004158624 0.0172213 NA NA 0.83931 0.9120536 0.01068996 NA NA NA FALSE 1 7.964 . missense_variant MODERATE EPB41L3 HGNC 3380 ENST00000342933 20/22 1 deleterious(0.04) probably_damaging(0.994) NA GTC T,C 8.236e-06 18:5395659 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 missense_variant 5.197761 0.97575 0.96815 0.706298 0.9982118 0 0.02927839 FALSE 4.06177e-06 ENSE00001639984_016 ENSE00001639984 016 18 5395578 5395747 - 30 99 41 C G 5395671 84 77 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATGAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395671 5395672 5395672 exon 36 0.3636364 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTCATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 155 79 0 0.04177328 0.02088664 NA NA NA NA NA 0.8458414 0.8327787 0.921451 0.9026563 -0.8458414 -0.7910054 NA NA 0.83931 0.9120536 -0.8184234 NA NA NA TRUE 0.936 -0.023 . synonymous_variant LOW EPB41L3 HGNC 3380 ENST00000342933 20/22 rs368249382 1 NA G:0.0002 G:0 TCA C,G 8.236e-06 18:5395672 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 synonymous_variant 1.611595 0.92601 0.73529 0.706298 0.6732783 0 0.02927839 FALSE 4.06319e-06 ENSE00001639984_017 ENSE00001639984 017 18 5395578 5395747 - 30 99 41 C T 5395676 85 72 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCATGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395676 5395677 5395677 exon 31 0.3131313 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCATGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 74 208 0.8425572 0.85 0.8462786 NA NA NA NA NA 0.8458414 0.8327787 0.921451 0.9026563 -0.003284193 0.0172213 NA NA 0.83931 0.9120536 0.006968555 NA NA NA FALSE 0.994 3.207 . missense_variant MODERATE EPB41L3 HGNC 3380 ENST00000342933 20/22 COSM989056&COSM3355995 1 deleterious(0.03) possibly_damaging(0.473) NA ACG C,T 8.236e-06 18:5395677 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 missense_variant 5.261361 0.95301 0.89835 0.706298 0.998149 0 0.02927839 FALSE 1.62536e-05 ENSE00001639984_018 ENSE00001639984 018 18 5395578 5395747 - 30 99 41 G T 5395677 86 71 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACTCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395677 5395678 5395678 exon 30 0.3030303 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGAGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 299 985 0.9728787 0.9906765 0.9817776 0.8458414 0.8327787 0.921451 0.9026563 NA NA 0.05142771 0.08802019 0.83931 0.9120536 NA 0.06972395 NA FALSE NA 0 -2.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:5395678 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 synonymous_variant 1.296399 0.19743 0.09344 0.706298 0.7022781 0 0.02927839 FALSE 6.09593e-05 ENSE00001639984_019 ENSE00001639984 019 18 5395578 5395747 - 30 99 41 G A 5395677 87 71 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACACCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395677 5395678 5395678 exon 30 0.3030303 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGTGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 18 17 0.07105536 0.03878323 0.05491929 NA NA NA NA NA 0.8458414 0.8327787 0.921451 0.9026563 -0.774786 -0.7939955 NA NA 0.83931 0.9120536 -0.7843907 NA NA NA TRUE 0 -2.015 NA NA NA EPB41L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L3 NA NA NA ENSG00000082397 ENSE00003572917 synonymous_variant 2.037483 0.1745 0.06166 0.706298 0.7135283 0 0.02927839 FALSE 2.03198e-05 ENSE00001639984_020 ENSE00001639984 020 18 5395578 5395747 - 30 99 41 T G 5395684 88 64 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCGCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395684 5395685 5395685 exon 23 0.2323232 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGCGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 199 321 0.88311 0.85 0.866555 1579 44 0.8350473 0.8838185 0.8594329 0.8458414 0.8327787 0.921451 0.9026563 0.0372686 0.0172213 -0.0864037 -0.01883779 0.83931 0.9120536 0.02724495 -0.05262075 0.0798657 FALSE FALSE 1 7.964 . missense_variant MODERATE EPB41L3 HGNC 3380 ENST00000342933 20/22 1 deleterious(0.02) possibly_damaging(0.887) NA CTC T,G 8.236e-06 18:5395685 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 missense_variant 5.464401 0.97649 0.97203 0.706298 0.9957627 0 0.02927839 FALSE 1.21915e-05 ENSE00001639984_021 ENSE00001639984 021 18 5395578 5395747 - 30 99 41 A T 5395689 89 59 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGTTCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395689 5395690 5395690 exon 18 0.1818182 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGAACTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 180 1228 0.9740811 0.9953759 0.9847285 0.8458414 0.8327787 0.921451 0.9026563 NA NA 0.05263013 0.09271962 0.83931 0.9120536 NA 0.07267487 NA FALSE NA 0.077 0.4 rs144613208 missense_variant MODERATE EPB41L3 HGNC 3380 ENST00000342933 20/22 rs144613208 1 tolerated(0.12) probably_damaging(0.992) NA T:0 T:0.0001 GAT A,T 8.236e-06 18:5395690 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 missense_variant 3.553084 0.90844 0.56001 0.706298 0.9927973 0 0.02927839 FALSE 8.1279e-06 ENSE00001639984_022 ENSE00001639984 022 18 5395578 5395747 - 30 99 41 A G 5395701 90 47 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGGTCGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395701 5395702 5395702 exon 6 0.06060606 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGACCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 1299 411 0.9546487 0.9921293 0.973389 0.8458414 0.8327787 0.921451 0.9026563 NA NA 0.0331977 0.08947296 0.83931 0.9120536 NA 0.06133533 NA FALSE NA 0.036 0.586 . synonymous_variant LOW EPB41L3 HGNC 3380 ENST00000342933 20/22 1 NA GAT A,G 8.236e-06 18:5395702 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 synonymous_variant 0.268974 0.29257 0.59604 0.706298 0.4065902 0 0.02927839 FALSE 4.06613e-06 ENSE00001639984_023 ENSE00001639984 023 18 5395578 5395747 - 30 99 41 C T 5395703 91 45 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATTGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395703 5395704 5395704 exon 4 0.04040404 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCAATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 14 21 0.85 0.85 0.85 400 776 0.8893184 0.7727236 0.831021 0.8458414 0.8327787 0.921451 0.9026563 0.004158624 0.0172213 -0.03213262 -0.1299327 0.83931 0.9120536 0.01068996 -0.08103265 0.09172262 FALSE FALSE 1 5.832 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:5395704 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 missense_variant 6.775139 0.96969 0.97504 0.706298 0.9984587 0 0.02927839 FALSE 5.2892e-05 ENSE00001639984_024 ENSE00001639984 024 18 5395578 5395747 - 30 99 41 C A 5395703 92 45 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATAGACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395703 5395704 5395704 exon 4 0.04040404 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCTATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 23 23 0.9185309 0.85 0.8842655 13 17 0.8123246 0.8 0.8061623 0.8458414 0.8327787 0.921451 0.9026563 0.07268953 0.0172213 -0.1091264 -0.1026563 0.83931 0.9120536 0.04495542 -0.1058913 0.1508467 FALSE FALSE 1 5.832 NA NA NA EPB41L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L3 NA NA NA ENSG00000082397 ENSE00003572917 missense_variant 6.815327 0.9717 0.96783 0.706298 0.9904287 0 0.02927839 FALSE 3.25489e-05 ENSE00001639984_025 ENSE00001639984 025 18 5395578 5395747 - 30 99 41 G A 5395704 93 44 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCAACCTAAAGCAGCAGAGGCATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395704 5395705 5395705 exon 3 0.03030303 GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTTGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 44 35 0.85 0.85 0.85 499 26 0.8995274 0.8055611 0.8525443 0.8458414 0.8327787 0.921451 0.9026563 0.004158624 0.0172213 -0.02192359 -0.0970952 0.83931 0.9120536 0.01068996 -0.05950939 0.07019935 FALSE FALSE 0 -1.626 rs116148637 splice_region_variant&synonymous_variant LOW EPB41L3 HGNC 3380 ENST00000342933 20/22 rs116148637 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0048 A:0 CGA G,A 0.0003871 18:5395705 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 splice_region_variant 0.30563 0.7725 0.14198 0.706298 0.3004422 0 0.02927839 FALSE 0.000362086 ENSE00001639984_026 ENSE00001639984 026 18 5395578 5395747 - 30 99 41 G A 5395721 94 27 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGACATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395721 5395722 5395722 upstr_intron -15 -0.3414634 GTGAGCACCTGGATGAGGGGTCTATGTCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 428 892 1 0.9959505 0.9979753 0.8458414 0.8327787 0.921451 0.9026563 NA NA 0.07854901 0.09329421 0.83931 0.9120536 NA 0.08592161 NA FALSE NA 0 0.561 . intron_variant MODIFIER EPB41L3 HGNC 3380 ENST00000342933 19/21 rs367734348 1 NA A:0 A:0.0001 GGC G,A 2.471e-05 18:5395722 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 intron_variant 0.319818 0.30681 0.05096 0.062308 0.6146825 0.0666035 0.02927839 FALSE 2.44918e-05 ENSE00001639984_027 ENSE00001639984 027 18 5395578 5395747 - 30 99 41 C G 5395722 95 26 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGGATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395722 5395723 5395723 upstr_intron -16 -0.3658537 GTGAGCACCTGGATGAGGGGTCTATCCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 119 172 0.85 0.7072742 0.7786371 43 605 0.8134236 0.8894296 0.8514266 0.8458414 0.8327787 0.921451 0.9026563 0.004158624 -0.1255045 -0.1080274 -0.01322674 0.83931 0.9120536 -0.06067292 -0.06062708 4.584163e-05 FALSE FALSE 0 -0.678 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:5395723 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 intron_variant -0.201603 0.23153 0.04829 0.062308 0.5553052 0.0666035 0.02927839 FALSE 4.08477e-06 ENSE00001639984_028 ENSE00001639984 028 18 5395578 5395747 - 30 99 41 C T 5395722 96 26 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGTATAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395722 5395723 5395723 upstr_intron -16 -0.3658537 GTGAGCACCTGGATGAGGGGTCTATACCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 57 137 0.85 0.85 0.85 1172 22 0.7992176 0.9390144 0.869116 0.8458414 0.8327787 0.921451 0.9026563 0.004158624 0.0172213 -0.1222333 0.03635814 0.83931 0.9120536 0.01068996 -0.0429376 0.05362757 FALSE FALSE 0 -0.678 NA NA NA EPB41L3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L3 NA NA NA ENSG00000082397 ENSE00003572917 intron_variant -0.062452 0.23978 0.05082 0.062308 0.6939372 0.0666035 0.02927839 FALSE 1.22543e-05 ENSE00001639984_029 ENSE00001639984 029 18 5395578 5395747 - 30 99 41 T G 5395724 97 24 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCAGAGACCCCTCATCCAGGTGCTCAC 5395578 5395748 5395724 5395725 5395725 upstr_intron -18 -0.4146341 GTGAGCACCTGGATGAGGGGTCTCTGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 440 708 1 0.996876 0.998438 0.8458414 0.8327787 0.921451 0.9026563 NA NA 0.07854901 0.09421974 0.83931 0.9120536 NA 0.08638437 NA FALSE NA 0 -2.373 . intron_variant MODIFIER EPB41L3 HGNC 3380 ENST00000342933 19/21 1 NA ATA T,G 8.236e-06 18:5395725 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 intron_variant -0.128983 0.22837 0.0412 0.062308 0.5265566 0.0666035 0.02927839 FALSE 4.08754e-06 ENSE00001639984_030 ENSE00001639984 030 18 5395578 5395747 - 30 99 41 A T 5395727 98 21 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGTCCCCTCATCCAGGTGCTCAC 5395578 5395748 5395727 5395728 5395728 upstr_intron -21 -0.4878049 GTGAGCACCTGGATGAGGGGACTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant NA NA NA NA NA 416 761 0.9896009 0.9687978 0.9791994 0.8458414 0.8327787 0.921451 0.9026563 NA NA 0.06814995 0.06614149 0.83931 0.9120536 NA 0.06714572 NA FALSE NA 0.003 1.101 . intron_variant MODIFIER EPB41L3 HGNC 3380 ENST00000342933 19/21 1 NA GAC A,T 8.236e-06 18:5395728 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 intron_variant 0.596046 0.92959 0.19729 0.062308 0.7271044 0.115349 0.02927839 FALSE 4.10378e-06 ENSE00001639984_031 ENSE00001639984 031 18 5395578 5395747 - 30 99 41 C T 5395730 99 18 AATCCTCTTCTCGGTTCTCACTCCACTTACTTTGGTGATGTGCGTAGTGGTGGTGGTACTGGTGGTTTCAGATGTGATCGTCTGTGCACTCATCAGCACGCCTGGCTCCAGATCTGTGCCTGGATCGACCTAAAGCAGCAGAGGCATAGACCTCTCATCCAGGTGCTCAC 5395578 5395748 5395730 5395731 5395731 upstr_intron -24 -0.5609756 GTGAGCACCTGGATGAGAGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT GTGAGCACCTGGATGAGGGGTCTATGCCTCTGCTGCTTTAGGTCGATCCAGGCACAGATCTGGAGCCAGGCGTGCTGATGAGTGCACAGACGATCACATCTGAAACCACCAGTACCACCACCACTACGCACATCACCAAAGTAAGTGGAGTGAGAACCGAGAAGAGGATT mutant 35 72 0.85 0.85 0.85 NA NA NA NA NA 0.8458414 0.8327787 0.921451 0.9026563 0.004158624 0.0172213 NA NA 0.83931 0.9120536 0.01068996 NA NA NA FALSE 0 -0.967 rs149003216 intron_variant MODIFIER EPB41L3 HGNC 3380 ENST00000342933 19/21 rs149003216 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 CCC C,T 5.765e-05 18:5395731 EPB41L3 HGNC Symbol protein_coding 238319 ENSG00000082397 ENSE00003572917 intron_variant 0.482758 0.20575 0.08351 0.062308 0.8532299 0.0666035 0.02927839 FALSE 6.18843e-05 ENSE00001640206_000 ENSE00001640206 000 X 32862859 32863028 - 41 78 51 NA NA NA NA NA CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 NA NA NA NA NA NA GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG natural 28 35 0.9990336 0.9864498 0.9927417 608 926 0.995623 0.9944949 0.995059 0.9990336 0.9864498 0.995623 0.9944949 0 0 0 0 0.9927417 0.995059 0 0 0 FALSE FALSE NA NA NA NA NA DMD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DMD NA NA NA ENSG00000198947 ENSE00001640206 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001640206_002 ENSE00001640206 002 X 32862859 32863028 - 41 78 51 C G 32862884 294 145 CTGTGTCACAGCATCCAGACCTTGTGCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 32844766 32844767 32844767 downstr_intron 16 1.4 GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGCACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 94 22 1 1 1 0.9990336 0.9864498 0.995623 0.9944949 NA NA 0.004376985 0.005505088 0.9927417 0.995059 NA 0.004941036 NA FALSE NA 0 0.147 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 rs370983176 1 NA G:0.0003 G:0 TCC C,G 2.471e-05 X:32844767 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 intron_variant -0.168214 0.18672 0.03624 0 0.6251294 0.0604104 1 TRUE 5.60488e-06 ENSE00001640206_005 ENSE00001640206 005 X 32862859 32863028 - 41 78 51 G A 32862920 297 109 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCACAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 32844802 32844803 32844803 exon -21 0.7435897 GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGTGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 642 941 0.8365495 0.9983606 0.9174551 0.9990336 0.9864498 0.995623 0.9944949 NA NA -0.1590735 0.003865735 0.9927417 0.995059 NA -0.0776039 NA FALSE NA 0.601 1.9 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA CGC G,A 1.647e-05 X:32844803 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 missense_variant 6.201901 0.93502 0.67204 0 0.9973286 0 1 TRUE 1.11984e-05 ENSE00001640206_006 ENSE00001640206 006 X 32862859 32863028 - 41 78 51 C T 32862921 298 108 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGTAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 32844803 32844804 32844804 exon -22 0.7307692 GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTACGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 29 56 1 1 1 0.9990336 0.9864498 0.995623 0.9944949 NA NA 0.004376985 0.005505088 0.9927417 0.995059 NA 0.004941036 NA FALSE NA 0.621 0.161 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA GCA C,T 8.237e-06 X:32844804 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 synonymous_variant 1.22594 0.93194 0.43489 0 0.7291118 0 1 TRUE 1.67948e-05 ENSE00001640206_007 ENSE00001640206 007 X 32862859 32863028 - 41 78 51 G C 32862939 299 90 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTCTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 32844821 32844822 32844822 exon 39 0.5 GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAAGAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 94 373 1 0.9953806 0.9976903 0.9990336 0.9864498 0.995623 0.9944949 NA NA 0.004376985 0.0008856685 0.9927417 0.995059 NA 0.002631327 NA FALSE NA 1 3.884 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA TGT G,C 8.237e-06 X:32844822 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 missense_variant 5.30838 0.97099 0.92332 0 0.9980324 0 1 TRUE 5.59688e-06 ENSE00001640206_008 ENSE00001640206 008 X 32862859 32863028 - 41 78 51 T G 32862957 300 72 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTGGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 32844839 32844840 32844840 exon 21 0.2692308 GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACCAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 568 41 0.996407 0.9880242 0.9922156 0.9990336 0.9864498 0.995623 0.9944949 NA NA 0.0007839783 -0.006470698 0.9927417 0.995059 NA -0.00284336 NA FALSE NA 1 2.666 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA TTG T,G 2.471e-05 X:32844840 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 synonymous_variant 0.559154 0.98194 0.85615 0 0.7926459 0 1 TRUE 1.1194e-05 ENSE00001640206_011 ENSE00001640206 011 X 32862859 32863028 - 41 78 51 G C 32862995 303 34 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAACAGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 32844877 32844878 32844878 upstr_intron -18 -0.3333333 GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTGTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 608 64 0.9889678 1 0.9944839 0.9990336 0.9864498 0.995623 0.9944949 NA NA -0.006655196 0.005505088 0.9927417 0.995059 NA -0.000575054 NA FALSE NA 0 -1.453 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA AGA G,C 8.237e-06 X:32844878 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 intron_variant -0.851426 0.08464 0.00697 0 0.3605619 0.0651752 1 TRUE 5.61495e-06 ENSE00001640206_012 ENSE00001640206 012 X 32862859 32863028 - 41 78 51 A T 32862996 304 33 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGTGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 32844878 32844879 32844879 upstr_intron -19 -0.3529412 GATTGTCGGTCTCTCTGCTGGTCAGTGAACACACTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 1147 55 1 1 1 0.9990336 0.9864498 0.995623 0.9944949 NA NA 0.004376985 0.005505088 0.9927417 0.995059 NA 0.004941036 NA FALSE NA 0 -0.052 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA GAG A,T 3.295e-05 X:32844879 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 intron_variant -0.172483 0.13233 0.04885 0 0.5046169 0.0651752 1 TRUE 2.24635e-05 ENSE00001640206_014 ENSE00001640206 014 X 32862859 32863028 - 41 78 51 G A 32862999 306 30 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTATTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 32844881 32844882 32844882 upstr_intron -22 -0.4117647 GATTGTCGGTCTCTCTGCTGGTCAGTGAATACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 490 127 0.9992417 0.9845384 0.99189 0.9990336 0.9864498 0.995623 0.9944949 NA NA 0.003618644 -0.009956528 0.9927417 0.995059 NA -0.003168942 NA FALSE NA 0.128 0.18 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA TGT G,A 3.295e-05 X:32844882 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 intron_variant 0.291973 0.66415 0.53087 0 0.5633673 0.0651752 1 TRUE 2.24948e-05 ENSE00001640206_016 ENSE00001640206 016 X 32862859 32863028 - 41 78 51 C A 32863009 308 20 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTGTTCACTGACAAGCAGAGAGACCGACAATC 32844741 32844911 32844891 32844892 32844892 upstr_intron -32 -0.6078431 GATTGTCGGTCTCTCTGCTTGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 59 23 1 1 1 0.9990336 0.9864498 0.995623 0.9944949 NA NA 0.004376985 0.005505088 0.9927417 0.995059 NA 0.004941036 NA FALSE NA 0 -0.724 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 1 NA CCA C,A 4.119e-05 X:32844892 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 intron_variant 0.644484 0.17844 0.05056 0 0.6975233 0.0498714 1 TRUE 1.69809e-05 ENSE00001640206_017 ENSE00001640206 017 X 32862859 32863028 - 41 78 51 G A 32863011 309 18 CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTACATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGCTGAGAACAAAACAAAAGAGTGTTCACTGACCAACAGAGAGACCGACAATC 32844741 32844911 32844893 32844894 32844894 upstr_intron -34 -0.6470588 GATTGTCGGTCTCTCTGTTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG mutant NA NA NA NA NA 1018 81 0.9994733 1 0.9997366 0.9990336 0.9864498 0.995623 0.9944949 NA NA 0.003850262 0.005505088 0.9927417 0.995059 NA 0.004677675 NA FALSE NA 0.058 1.266 . intron_variant MODIFIER DMD HGNC 2928 ENST00000448370 2/2 rs376216937 1 NA A:0 A:0.0001 AGC G,A 8.238e-06 X:32844894 DMD HGNC Symbol protein_coding 2241764 ENSG00000198947 ENSE00001640206 intron_variant 0.72479 0.27066 0.09935 0 0.7075101 0.0498714 1 TRUE 5.66646e-06 ENSE00001640206_BRK ENSE00001640206 BRK X 32862859 32863028 - 41 78 51 A,G; T,T NA NA NA CTGTGTCACAGCATCCAGACCTTGTCCAGGGTACTACTTGGATTATTGTTCTGCAAAACCCGCAGTGCCTTGTTGACATTGTTCAGGGCATGAACTCTTGTGGATCCTTTTTCTTTTGGAAGAGAACAAAACAAAAGAGTGTTCACTGACCAGCAGAGAGACCGACAATC 32844741 32844911 NA NA NA NA NA NA GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCTTCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATCCAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG GATTGTCGGTCTCTCTGCTGGTCAGTGAACACTCTTTTGTTTTGTTCTCAGCCAAAAGAAAAAGGATCCACAAGAGTTCATGCCCTGAACAATGTCAACAAGGCACTGCGGGTTTTGCAGAACAATAATGTAAGTAGTACCCTGGACAAGGTCTGGATGCTGTGACACAG control 220 87 0.02372839 0.1087429 0.06623566 NA NA NA NA NA 0.9990336 0.9864498 0.995623 0.9944949 -0.9753052 -0.8777068 NA NA 0.9927417 0.995059 -0.926506 NA NA NA TRUE NA NA NA NA NA DMD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DMD NA NA NA ENSG00000198947 ENSE00001640206 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001640621_000 ENSE00001640621 000 14 24526325 24526494 + 51 78 41 NA NA NA NA NA GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 NA NA NA NA NA NA GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG natural 884 1472 0.8542568 0.85 0.8521284 1655 3459 0.8594554 0.7481187 0.803787 0.8542568 0.85 0.8594554 0.7481187 0 0 0 0 0.8521284 0.803787 0 0 0 FALSE FALSE NA NA NA NA NA LRRC16B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARMIL3 NA NA NA ENSG00000186648 ENSE00003511364 NA NA NA NA NA NA NA NA NA NA ENSE00001640621_001 ENSE00001640621 001 14 24526325 24526494 + 51 78 41 C A 24526340 241 16 GCGAGACTCCATCATACCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057130 24057131 24057131 upstr_intron -36 -0.6862745 GCGAGACTCCATCATACCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 41 16 0.85 0.85 0.85 27 90 0.9708402 0.966923 0.9688816 0.8542568 0.85 0.8594554 0.7481187 -0.004256751 0 0.1113848 0.2188043 0.8521284 0.803787 -0.002128376 0.1650946 0.1672229 FALSE FALSE 0 -0.251 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 1 NA TCC C,A 8.238e-06 14:24057131 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 intron_variant 0.427051 0.23089 0.12385 0.126639 0.4999209 0.0478519 NA NA 4.18526e-06 ENSE00001640621_002 ENSE00001640621 002 14 24526325 24526494 + 51 78 41 T C 24526344 242 20 GCGAGACTCCATCATCCCTCCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057134 24057135 24057135 upstr_intron -32 -0.6078431 GCGAGACTCCATCATCCCTCCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 69 106 0.85 0.7983338 0.8241669 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.004256751 -0.05166615 NA NA 0.8521284 0.803787 -0.02796145 NA NA NA FALSE 0 -1.569 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 1 NA TTC T,C 8.238e-06 14:24057135 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 intron_variant 0.095086 0.16162 0.03394 0.126639 0.3870082 0.0478519 NA NA 4.1606e-06 ENSE00001640621_003 ENSE00001640621 003 14 24526325 24526494 + 51 78 41 C T 24526348 243 24 GCGAGACTCCATCATCCCTTCCCTTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057138 24057139 24057139 upstr_intron -28 -0.5294118 GCGAGACTCCATCATCCCTTCCCTTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 209 275 0.85 0.85 0.85 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.004256751 0 NA NA 0.8521284 0.803787 -0.002128376 NA NA NA FALSE 0 0.023 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 1 NA CCT C,T 7.414e-05 14:24057139 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 intron_variant 0.280887 0.1872 0.02186 0.126639 0.5935355 0.0478519 NA NA 9.52223e-05 ENSE00001640621_004 ENSE00001640621 004 14 24526325 24526494 + 51 78 41 C A 24526366 244 42 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTACTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057156 24057157 24057157 upstr_intron -10 -0.1764706 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTACTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 1357 97 0.0009709615 0 0.0004854808 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.8532858 -0.85 NA NA 0.8521284 0.803787 -0.8516429 NA NA NA TRUE 0 0.719 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 rs201448069 1 NA A:0 A:0.0002 TCC C,A 4.118e-05 14:24057157 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 intron_variant 0.340365 0.29811 0.17665 0.126639 0.6784228 0.0826245 NA NA 2.45024e-05 ENSE00001640621_005 ENSE00001640621 005 14 24526325 24526494 + 51 78 41 C A 24526377 245 53 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGACCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057167 24057168 24057168 exon 2 0.02564103 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGACCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 293 335 0.85 0.85 0.85 79 227 0.95 0.9589257 0.9544629 0.8542568 0.85 0.8594554 0.7481187 -0.004256751 0 0.09054461 0.2108071 0.8521284 0.803787 -0.002128376 0.1506758 0.1528042 FALSE FALSE 0.985 0.633 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 rs371545401 1 NA A:0 A:0.0001 GCC C,A 8.237e-06 14:24057168 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 missense_variant 2.297827 0.97136 0.06801 0.713056 0.9725148 0 NA NA 2.03656e-05 ENSE00001640621_007 ENSE00001640621 007 14 24526325 24526494 + 51 78 41 A G 24526383 247 59 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTGCAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057173 24057174 24057174 exon 8 0.1025641 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTGCAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 312 383 0.8534452 0.7928904 0.8231678 14 357 0.95 0.9657859 0.957893 0.8542568 0.85 0.8594554 0.7481187 -0.0008115391 -0.05710965 0.09054461 0.2176673 0.8521284 0.803787 -0.02896059 0.1541059 0.1830665 FALSE FALSE 0.068 2.717 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 1 NA TAC A,G 8.237e-06 14:24057174 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 missense_variant 5.033844 0.98073 0.71615 0.713056 0.9883546 0 NA NA 4.06954e-06 ENSE00001640621_010 ENSE00001640621 010 14 24526325 24526494 + 51 78 41 C A 24526405 250 81 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAAAGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057195 24057196 24057196 exon 30 0.3846154 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAAAGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 103 72 0 0 0 61 85 0.4457132 0.3137722 0.3797427 0.8542568 0.85 0.8594554 0.7481187 -0.8542568 -0.85 -0.4137422 -0.4343465 0.8521284 0.803787 -0.8521284 -0.4240443 0.428084 FALSE TRUE 0.939 -0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:24057196 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 missense_variant 4.179358 0.96204 0.44342 0.675385 0.9109468 0 NA NA 7.31945e-05 ENSE00001640621_011 ENSE00001640621 011 14 24526325 24526494 + 51 78 41 C T 24526405 251 81 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAATGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057195 24057196 24057196 exon 30 0.3846154 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAATGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 96 46 0 0.01420735 0.007103675 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.8542568 -0.8357927 NA NA 0.8521284 0.803787 -0.8450247 NA NA NA TRUE 0.939 -0.012 NA NA NA LRRC16B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARMIL3 NA NA NA ENSG00000186648 ENSE00003511364 synonymous_variant 0.895188 0.95053 0.10996 0.675385 0.4920611 0 NA NA 3.65973e-05 ENSE00001640621_012 ENSE00001640621 012 14 24526325 24526494 + 51 78 41 C T 24526409 252 85 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCTTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057199 24057200 24057200 exon 34 0.4358974 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCTTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 45 59 0.85 0.85 0.85 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.004256751 0 NA NA 0.8521284 0.803787 -0.002128376 NA NA NA FALSE 0.828 0.767 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 1 NA CCT C,T 1.647e-05 14:24057200 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 synonymous_variant 0.894878 0.9722 0.43101 0.675385 0.456101 0 NA NA 1.62621e-05 ENSE00001640621_013 ENSE00001640621 013 14 24526325 24526494 + 51 78 41 C G 24526418 253 94 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACGTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057208 24057209 24057209 exon -36 0.5512821 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACGTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 274 574 0.7832154 0.85 0.8166077 511 220 0.9584732 0.905663 0.9320681 0.8542568 0.85 0.8594554 0.7481187 -0.0710414 0 0.09901783 0.1575443 0.8521284 0.803787 -0.0355207 0.1282811 0.1638018 FALSE FALSE 0.998 0.734 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 1 NA CCT C,G 8.236e-06 14:24057209 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 missense_variant 2.838569 0.96812 0.792 0.675385 0.9885883 0 NA NA 8.13114e-06 ENSE00001640621_015 ENSE00001640621 015 14 24526325 24526494 + 51 78 41 C T 24526441 255 117 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGTGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057231 24057232 24057232 exon -13 0.8461538 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGTGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 145 101 0 0.01293543 0.006467714 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.8542568 -0.8370646 NA NA 0.8521284 0.803787 -0.8456607 NA NA NA TRUE 0 -0.372 rs144839309 upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 rs144839309 1 NA T:0 T:0.0005 GCG C,T 0.0002059 14:24057232 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 synonymous_variant 1.639163 0.49987 0.12911 0.675385 0.6073454 0 NA NA 0.000199546 ENSE00001640621_017 ENSE00001640621 017 14 24526325 24526494 + 51 78 41 T G 24526446 257 122 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCAGCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057236 24057237 24057237 exon -8 0.9102564 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCAGCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant NA NA NA NA NA 61 187 0.8671269 0.9706891 0.918908 0.8542568 0.85 0.8594554 0.7481187 NA NA 0.007671469 0.2225705 0.8521284 0.803787 NA 0.115121 NA FALSE NA 0.698 6.427 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:24057237 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 missense_variant 3.439302 0.94286 0.98876 0.713056 0.973547 0 NA NA 8.14863e-06 ENSE00001640621_018 ENSE00001640621 018 14 24526325 24526494 + 51 78 41 T C 24526446 258 122 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCACCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057236 24057237 24057237 exon -8 0.9102564 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCACCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 343 230 0 0 0 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.8542568 -0.85 NA NA 0.8521284 0.803787 -0.8521284 NA NA NA TRUE 0.698 6.427 NA NA NA LRRC16B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARMIL3 NA NA NA ENSG00000186648 ENSE00003511364 missense_variant 2.523762 0.9416 0.98819 0.713056 0.9691267 0 NA NA 4.07432e-06 ENSE00001640621_019 ENSE00001640621 019 14 24526325 24526494 + 51 78 41 C T 24526447 259 123 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATTGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057237 24057238 24057238 exon -7 0.9230769 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATTGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 95 119 0.8442086 0.85 0.8471043 77 236 0.8610152 0.8490566 0.8550359 0.8542568 0.85 0.8594554 0.7481187 -0.01004814 1.110223e-16 0.001559832 0.1009379 0.8521284 0.803787 -0.00502407 0.05124888 0.05627295 FALSE FALSE 0.001 -2.672 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 1 NA TCG C,T 8.236e-06 14:24057238 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 synonymous_variant 1.619207 0.37929 0.0056 0.713056 0.6945077 0 NA NA 8.15441e-06 ENSE00001640621_020 ENSE00001640621 020 14 24526325 24526494 + 51 78 41 G A 24526448 260 124 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCAACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057238 24057239 24057239 exon -6 0.9358974 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCAACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 206 254 0 0 0 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.8542568 -0.85 NA NA 0.8521284 0.803787 -0.8521284 NA NA NA TRUE 1 6.174 rs148593427 upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 rs148593427 1 NA A:0.0005 A:0 CGA G,A 4.118e-05 14:24057239 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 missense_variant 5.989226 0.99241 0.98845 0.713056 0.9972898 0 NA NA 1.63179e-05 ENSE00001640621_021 ENSE00001640621 021 14 24526325 24526494 + 51 78 41 C T 24526450 261 126 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGATTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057240 24057241 24057241 exon -4 0.9615385 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGATTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant NA NA NA NA NA 298 676 0.9846926 0.9574792 0.9710859 0.8542568 0.85 0.8594554 0.7481187 NA NA 0.1252372 0.2093606 0.8521284 0.803787 NA 0.1672989 NA FALSE NA 0.016 -0.034 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 1 NA ACT C,T 8.237e-06 14:24057241 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 synonymous_variant 0.192107 0.97551 0.36367 0.713056 0.2928489 0 NA NA NA ENSE00001640621_022 ENSE00001640621 022 14 24526325 24526494 + 51 78 41 T C 24526466 262 142 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGCGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057256 24057257 24057257 downstr_intron 13 1.325 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGCGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 11 54 0.9473798 0.85 0.8986899 10 612 0.8 0.9882448 0.8941224 0.8542568 0.85 0.8594554 0.7481187 0.09312304 1.110223e-16 -0.05945539 0.2401261 0.8521284 0.803787 0.04656152 0.09033538 0.04377386 FALSE FALSE 0.001 0.614 rs45592432 upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 rs45592432 1 C:0.0064 C:0.0015 C:0.0101 NA C:0 C:0.0199 C:0.0031 C:0.0039 C:0.0207 GTG T,C 0.013 14:24057257 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 intron_variant -0.070091 0.1281 0.03839 0.126639 0.4544297 0.0891925 NA NA 0.0134176 ENSE00001640621_023 ENSE00001640621 023 14 24526325 24526494 + 51 78 41 A C 24526474 263 150 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGACGCCAGTCTGAGGTGATTTGG 24057115 24057285 24057264 24057265 24057265 downstr_intron 21 1.525 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGACGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 91 347 0.85 0.85 0.85 NA NA NA NA NA 0.8542568 0.85 0.8594554 0.7481187 -0.004256751 0 NA NA 0.8521284 0.803787 -0.002128376 NA NA NA FALSE 0 -0.338 . upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 rs199978548 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 AAG A,C 8.237e-06 14:24057265 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 intron_variant 0.105614 0.18079 0.03456 0.126639 0.4455226 0.0891925 NA NA 4.14298e-06 ENSE00001640621_024 ENSE00001640621 024 14 24526325 24526494 + 51 78 41 A G 24526478 264 154 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCGGTCTGAGGTGATTTGG 24057115 24057285 24057268 24057269 24057269 downstr_intron 25 1.625 GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCGGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG mutant 60 38 0.85 0.85 0.85 130 250 0.9551906 0.8785185 0.9168545 0.8542568 0.85 0.8594554 0.7481187 -0.004256751 0 0.0957352 0.1303998 0.8521284 0.803787 -0.002128376 0.1130675 0.1151959 FALSE FALSE 0 -0.072 rs12879859 upstream_gene_variant MODIFIER LRRC16B HGNC 20272 ENST00000561354 rs12879859 1 G:0.2825 G:0.2073 G:0.2017 NA G:0.4196 G:0.2525 G:0.3313 G:0.2149 G:0.2785 CAG A,G 0.266 14:24057269 CARMIL3 HGNC Symbol protein_coding 17728 ENSG00000186648 ENSE00003511364 intron_variant 0.115782 0.19723 0.01132 0.126639 0.3653694 0.048342 NA NA 0.267287 ENSE00001640621_BRK ENSE00001640621 BRK 14 24526325 24526494 + 51 78 41 A,G; T,T NA NA NA GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCTTGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGCCGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG 24057115 24057285 NA NA NA NA NA NA GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCTTGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGCCGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG GCGAGACTCCATCATCCCTTCCCCTGCAACCCCTCTTCCTTCCTACTCCAGGCCCTCTACAGTTTCCTGGCCCAACCCAACGCCCTGGTGCACCTGGACCTGTCAGGAACTGACTGCGTCATCGACTTGGTGAGGAGTTGGTGATGGGAAGCCAGTCTGAGGTGATTTGG control 283 187 0 0 0 86 25 0 0.0131026 0.006551302 0.8542568 0.85 0.8594554 0.7481187 -0.8542568 -0.85 -0.8594554 -0.7350161 0.8521284 0.803787 -0.8521284 -0.7972357 0.05489265 TRUE TRUE NA NA NA NA NA LRRC16B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CARMIL3 NA NA NA ENSG00000186648 ENSE00003511364 NA NA NA NA NA NA NA NA NA NA ENSE00001641604_000 ENSE00001641604 000 15 76462095 76462264 + 62 57 51 NA NA NA NA NA AGCTTCCAGGATGGCAGAGTGGGGGCTTTGGGGGTGGACATTGGTCTTTACCTCTATTTTGTTTTCGATGTAATCCCAGATCCCAAGCACCACAATCCGTAGAACAGTCTGAGGAAAGGAAGTGAGAAAGTGGTTATTCTCCAGGTCTTCCTCCAGCCGAGAAGATTCCA 76169753 76169923 NA NA NA NA NA NA TGGAATCTTCTCGGCTGGAGGAAGACCTGGAGAATAACCACTTTCTCACTTCCTTTCCTCAGACTGTTCTACGGATTGTGGTGCTTGGGATCTGGGATTACATCGAAAACAAAATAGAGGTAAAGACCAATGTCCACCCCCAAAGCCCCCACTCTGCCATCCTGGAAGCT TGGAATCTTCTCGGCTGGAGGAAGACCTGGAGAATAACCACTTTCTCACTTCCTTTCCTCAGACTGTTCTACGGATTGTGGTGCTTGGGATCTGGGATTACATCGAAAACAAAATAGAGGTAAAGACCAATGTCCACCCCCAAAGCCCCCACTCTGCCATCCTGGAAGCT natural 18 77 0.9950135 0.9389448 0.9669792 2047 1816 0.878486 0.7729793 0.8257327 0.9950135 0.9389448 0.878486 0.7729793 0 0 0 0 0.9669792 0.8257327 0 0 0 FALSE FALSE NA NA NA NA NA C15orf27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM266 NA NA NA ENSG00000169758 ENSE00003470968 NA NA NA NA NA NA NA NA NA NA ENSE00001641604_008 ENSE00001641604 008 15 76462095 76462264 + 62 57 51 C T 76462195 2005 101 AGCTTCCAGGATGGCAGAGTGGGGGCTTTGGGGGTGGACATTGGTCTTTACCTCTATTTTGTTTTCGATATAATCCCAGATCCCAAGCACCACAATCCGTAGAACAGTCTGAGGAAAGGAAGTGAGAAAGTGGTTATTCTCCAGGTCTTCCTCCAGCCGAGAAGATTCCA 76169753 76169923 76169853 76169854 76169854 exon -19 0.6842105 TGGAATCTTCTCGGCTGGAGGAAGACCTGGAGAATAACCACTTTCTCACTTCCTTTCCTCAGACTGTTCTACGGATTGTGGTGCTTGGGATCTGGGATTATATCGAAAACAAAATAGAGGTAAAGACCAATGTCCACCCCCAAAGCCCCCACTCTGCCATCCTGGAAGCT TGGAATCTTCTCGGCTGGAGGAAGACCTGGAGAATAACCACTTTCTCACTTCCTTTCCTCAGACTGTTCTACGGATTGTGGTGCTTGGGATCTGGGATTACATCGAAAACAAAATAGAGGTAAAGACCAATGTCCACCCCCAAAGCCCCCACTCTGCCATCCTGGAAGCT mutant 10 10 0.85 0.85 0.85 NA NA NA NA NA 0.9950135 0.9389448 0.878486 0.7729793 -0.1450135 -0.08894484 NA NA 0.9669792 0.8257327 -0.1169792 NA NA NA FALSE 1 0.694 . missense_variant&NMD_transcript_variant MODERATE C15orf27 HGNC 26763 ENST00000561302 5/11 1 unknown(0) NA ACA C,T 3.31e-05 15:76169854 TMEM266 HGNC Symbol protein_coding 169284 ENSG00000169758 ENSE00003470968 missense_variant 1.047317 0.91933 0.75204 0.615465 0.8880539 0 NA NA 2.84428e-05 ENSE00001641604_010 ENSE00001641604 010 15 76462095 76462264 + 62 57 51 C T 76462198 2007 104 AGCTTCCAGGATGGCAGAGTGGGGGCTTTGGGGGTGGACATTGGTCTTTACCTCTATTTTGTTTTCAATGTAATCCCAGATCCCAAGCACCACAATCCGTAGAACAGTCTGAGGAAAGGAAGTGAGAAAGTGGTTATTCTCCAGGTCTTCCTCCAGCCGAGAAGATTCCA 76169753 76169923 76169856 76169857 76169857 exon -16 0.7368421 TGGAATCTTCTCGGCTGGAGGAAGACCTGGAGAATAACCACTTTCTCACTTCCTTTCCTCAGACTGTTCTACGGATTGTGGTGCTTGGGATCTGGGATTACATTGAAAACAAAATAGAGGTAAAGACCAATGTCCACCCCCAAAGCCCCCACTCTGCCATCCTGGAAGCT TGGAATCTTCTCGGCTGGAGGAAGACCTGGAGAATAACCACTTTCTCACTTCCTTTCCTCAGACTGTTCTACGGATTGTGGTGCTTGGGATCTGGGATTACATCGAAAACAAAATAGAGGTAAAGACCAATGTCCACCCCCAAAGCCCCCACTCTGCCATCCTGGAAGCT mutant 31 26 0.85 0.85 0.85 NA NA NA NA NA 0.9950135 0.9389448 0.878486 0.7729793 -0.1450135 -0.08894484 NA NA 0.9669792 0.8257327 -0.1169792 NA NA NA FALSE 0.239 -0.708 . stop_gained&NMD_transcript_variant HIGH C15orf27 HGNC 26763 ENST00000561302 5/11 rs368635240 1 NA T:0 T:0.0001 TCG C,T 1.655e-05 15:76169857 TMEM266 HGNC Symbol protein_coding 169284 ENSG00000169758 ENSE00003470968 stop_gained 2.487834 0.8771 0.15777 0.615465 0.9818858 0 NA NA 1.62537e-05 ENSE00001641604_012 ENSE00001641604 012 15 76462095 76462264 + 62 57 51 G A 76462214 2009 120 AGCTTCCAGGATGGCAGAGTGGGGGCTTTGGGGGTGGACATTGGTCTTTATCTCTATTTTGTTTTCGATGTAATCCCAGATCCCAAGCACCACAATCCGTAGAACAGTCTGAGGAAAGGAAGTGAGAAAGTGGTTATTCTCCAGGTCTTCCTCCAGCCGAGAAGATTCCA 76169753 76169923 76169872 76169873 76169873 downstr_intron 1 1.02 TGGAATCTTCTCGGCTGGAGGAAGACCTGGAGAATAACCACTTTCTCACTTCCTTTCCTCAGACTGTTCTACGGATTGTGGTGCTTGGGATCTGGGATTACATCGAAAACAAAATAGAGATAAAGACCAATGTCCACCCCCAAAGCCCCCACTCTGCCATCCTGGAAGCT TGGAATCTTCTCGGCTGGAGGAAGACCTGGAGAATAACCACTTTCTCACTTCCTTTCCTCAGACTGTTCTACGGATTGTGGTGCTTGGGATCTGGGATTACATCGAAAACAAAATAGAGGTAAAGACCAATGTCCACCCCCAAAGCCCCCACTCTGCCATCCTGGAAGCT mutant 47 85 0 0 0 NA NA NA NA NA 0.9950135 0.9389448 0.878486 0.7729793 -0.9950135 -0.9389448 NA NA 0.9669792 0.8257327 -0.9669792 NA NA NA TRUE 1 8.813 . splice_donor_variant&NMD_transcript_variant HIGH C15orf27 HGNC 26763 ENST00000561302 5/10 1 NA GGT G,A 8.274e-06 15:76169873 TMEM266 HGNC Symbol protein_coding 169284 ENSG00000169758 ENSE00003470968 splice_donor_variant 5.841574 0.97022 0.96551 0.078448 0.9958667 0.98452 NA NA 4.06527e-06 ENSE00001642061_000 ENSE00001642061 000 2 27722201 27722370 + 63 54 53 NA NA NA NA NA CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG 27499333 27499503 NA NA NA NA NA NA CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG natural 493 524 0.8543669 0.8653114 0.8598392 2597 1573 0.7115894 0.7988107 0.7552 0.8543669 0.8653114 0.7115894 0.7988107 0 0 0 0 0.8598392 0.7552 0 0 0 FALSE FALSE NA NA NA NA NA GCKR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GCKR NA NA NA ENSG00000084734 ENSE00003578255 NA NA NA NA NA NA NA 3.583925e-16 FALSE NA ENSE00001642061_004 ENSE00001642061 004 2 27722201 27722370 + 63 54 53 A G 27722237 557 37 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACGCTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG 27499333 27499503 27499369 27499370 27499370 upstr_intron -27 -0.4126984 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACGCTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG mutant NA NA NA NA NA 47 49 0.8 0.8 0.8 0.8543669 0.8653114 0.7115894 0.7988107 NA NA 0.08841065 0.001189261 0.8598392 0.7552 NA 0.04479995 NA FALSE NA 0 -1.141 . intron_variant MODIFIER GCKR HGNC 4196 ENST00000453813 5/7 1 NA CAC A,G 0.00014 2:27499370 GCKR HGNC Symbol protein_coding 26842 ENSG00000084734 ENSE00003578255 intron_variant -0.134204 0.14972 0.01807 0.053691 0.4619657 0.0532938 3.583925e-16 FALSE 0.000113696 ENSE00001642061_010 ENSE00001642061 010 2 27722201 27722370 + 63 54 53 C T 27722272 563 72 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCTGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG 27499333 27499503 27499404 27499405 27499405 exon 9 0.1666667 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCTGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG mutant NA NA NA NA NA 17 558 0.01830823 0.0005735537 0.009440891 0.8543669 0.8653114 0.7115894 0.7988107 NA NA -0.6932811 -0.7982372 0.8598392 0.7552 NA -0.7457592 NA TRUE NA 0.978 -0.298 rs189485742 synonymous_variant LOW GCKR HGNC 4196 ENST00000453813 6/8 rs189485742&COSM82150&COSM1407476 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 CCG C,T 9.06e-05 2:27499405 GCKR HGNC Symbol protein_coding 26842 ENSG00000084734 ENSE00003578255 missense_variant 1.500672 0.80728 0.07859 0.615465 0.6101323 0 3.583925e-16 FALSE 8.1215e-05 ENSE00001642061_015 ENSE00001642061 015 2 27722201 27722370 + 63 54 53 A G 27722300 568 100 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCGTTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG 27499333 27499503 27499432 27499433 27499433 exon -18 0.6851852 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCGTTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG mutant NA NA NA NA NA 107 227 0.95 0.9822561 0.9661281 0.8543669 0.8653114 0.7115894 0.7988107 NA NA 0.2384106 0.1834454 0.8598392 0.7552 NA 0.210928 NA FALSE NA 0.999 1.344 . missense_variant MODERATE GCKR HGNC 4196 ENST00000453813 6/8 1 tolerated(0.22) benign(0.075) NA CAT A,G 8.236e-06 2:27499433 GCKR HGNC Symbol protein_coding 26842 ENSG00000084734 ENSE00003578255 missense_variant 0.256346 0.86076 0.58251 0.615465 0.9106426 0 3.583925e-16 FALSE 4.06058e-06 ENSE00001642061_021 ENSE00001642061 021 2 27722201 27722370 + 63 54 53 A C 27722326 574 126 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAACAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG 27499333 27499503 27499458 27499459 27499459 downstr_intron 9 1.173077 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAACAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG mutant NA NA NA NA NA 3189 92 0.8016662 0.8 0.8008331 0.8543669 0.8653114 0.7115894 0.7988107 NA NA 0.0900768 0.001189261 0.8598392 0.7552 NA 0.04563303 NA FALSE NA 0.044 0.487 . intron_variant MODIFIER GCKR HGNC 4196 ENST00000453813 6/7 1 NA AAA A,C 8.236e-06 2:27499459 GCKR HGNC Symbol protein_coding 26842 ENSG00000084734 ENSE00003578255 intron_variant 1.235359 0.89828 0.14205 0.053691 0.8002503 0.300591 3.583925e-16 FALSE 4.06058e-06 ENSE00001642061_024 ENSE00001642061 024 2 27722201 27722370 + 63 54 53 G A 27722355 577 155 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAAAGAGGAAGTGAGTGG 27499333 27499503 27499487 27499488 27499488 downstr_intron 38 1.730769 CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAAAGAGGAAGTGAGTGG CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG mutant NA NA NA NA NA 264 1021 0.8 0.8002477 0.8001238 0.8543669 0.8653114 0.7115894 0.7988107 NA NA 0.08841065 0.001436917 0.8598392 0.7552 NA 0.04492378 NA FALSE NA 0.002 0.577 . intron_variant MODIFIER GCKR HGNC 4196 ENST00000453813 6/7 rs377307319 1 NA A:0.0007 A:0 AGA G,A 1.647e-05 2:27499488 GCKR HGNC Symbol protein_coding 26842 ENSG00000084734 ENSE00003578255 intron_variant 0.04679 0.18798 0.03388 0.053691 0.6030352 0.0516226 3.583925e-16 FALSE 8.1217e-06 ENSE00001642061_BRK ENSE00001642061 BRK 2 27722201 27722370 + 63 54 53 A,G; T,T NA NA NA CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTTTGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTCCGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG 27499333 27499503 NA NA NA NA NA NA CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTTTGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTCCGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG CACAGTAGATTTGTGCCCTGGAATCCTCCCAGTTACACTACCTTGTCCATCCTCCTCTCCTAGGTGGCTGCCGGGAAGAAGAGAGTGATTGTCATTGGCATTTCTGTGGGACTCTCTGTGAGTAAAAAGATGGGTTGAGTGGATCAATTTTAGAGAGAGGAAGTGAGTGG control 61 378 0 0 0 NA NA NA NA NA 0.8543669 0.8653114 0.7115894 0.7988107 -0.8543669 -0.8653114 NA NA 0.8598392 0.7552 -0.8598392 NA NA NA TRUE NA NA NA NA NA GCKR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GCKR NA NA NA ENSG00000084734 ENSE00003578255 NA NA NA NA NA NA NA 3.583925e-16 FALSE NA ENSE00001642210_000 ENSE00001642210 000 14 75366944 75367113 + 48 84 38 NA NA NA NA NA CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 NA NA NA NA NA NA AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG natural NA NA NA NA NA 1398 1687 0.9724419 0.9966348 0.9845384 NA NA 0.9724419 0.9966348 NA NA 0 0 NA 0.9845384 NA 0 NA FALSE NA NA NA NA NA NA DLST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DLST NA NA NA ENSG00000119689 ENSE00003579414 NA NA NA NA NA NA NA 0.9503937 TRUE NA ENSE00001642210_001 ENSE00001642210 001 14 75366944 75367113 + 48 84 38 A G 75366981 1088 38 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGGGGGCGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900277 74900278 74900278 upstr_intron -11 -0.2083333 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCGCCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant NA NA NA NA NA 728 44 0.9925491 1 0.9962745 NA NA 0.9724419 0.9966348 NA NA 0.02010714 0.003365171 NA 0.9845384 NA 0.01173616 NA FALSE NA 0 0.422 . intron_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 9/11 1 NA CAC A,G 1.647e-05 14:74900278 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 intron_variant 1.313512 0.25026 0.07261 0.156188 0.7654868 0.242581 0.9503937 TRUE 1.62862e-05 ENSE00001642210_002 ENSE00001642210 002 14 75366944 75367113 + 48 84 38 C T 75366984 1089 41 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGGAGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900280 74900281 74900281 upstr_intron -8 -0.1458333 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCTCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant NA NA NA NA NA 1379 355 0.9992215 0.9367365 0.967979 NA NA 0.9724419 0.9966348 NA NA 0.02677958 -0.05989828 NA 0.9845384 NA -0.01655935 NA FALSE NA 0 0.175 . splice_region_variant&intron_variant&NMD_transcript_variant LOW DLST HGNC 2911 ENST00000554612 9/11 1 NA CCC C,T 1.647e-05 14:74900281 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 splice_region_variant 1.051133 0.24201 0.06451 0.156188 0.7544209 0.250098 0.9503937 TRUE 1.22107e-05 ENSE00001642210_003 ENSE00001642210 003 14 75366944 75367113 + 48 84 38 C G 75366985 1090 42 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGCGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900281 74900282 74900282 upstr_intron -7 -0.125 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCGCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant NA NA NA NA NA 1634 178 0.9982912 0.9061067 0.9521989 NA NA 0.9724419 0.9966348 NA NA 0.02584926 -0.09052816 NA 0.9845384 NA -0.03233945 NA FALSE NA 0 0.704 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:74900282 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 splice_region_variant 0.411041 0.24679 0.39609 0.156188 0.7264116 0.185723 0.9503937 TRUE 0.000325598 ENSE00001642210_004 ENSE00001642210 004 14 75366944 75367113 + 48 84 38 C T 75366985 1091 42 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGAGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900281 74900282 74900282 upstr_intron -7 -0.125 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCTCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant NA NA NA NA NA 719 1197 0.9971287 0.9973791 0.9972539 NA NA 0.9724419 0.9966348 NA NA 0.02468674 0.0007442284 NA 0.9845384 NA 0.01271549 NA FALSE NA 0 0.704 NA NA NA DLST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DLST NA NA NA ENSG00000119689 ENSE00003579414 splice_region_variant 0.679073 0.19429 0.03155 0.156188 0.6998063 0.185723 0.9503937 TRUE 8.13994e-06 ENSE00001642210_006 ENSE00001642210 006 14 75366944 75367113 + 48 84 38 A G 75367006 1093 63 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACCGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900302 74900303 74900303 exon 15 0.1785714 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCGGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant 35 67 1 0.9984446 0.9992223 367 808 0.9939858 0.9982862 0.996136 NA NA 0.9724419 0.9966348 NA NA 0.02154384 0.001651338 NA 0.9845384 NA 0.01159759 NA FALSE NA 0.003 -1.438 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 10/12 1 NA CAG A,G 8.236e-06 14:74900303 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 synonymous_variant 0.872677 0.41062 0.1284 0.706548 0.6966273 0 0.9503937 TRUE 4.06517e-06 ENSE00001642210_008 ENSE00001642210 008 14 75366944 75367113 + 48 84 38 G A 75367015 1095 72 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTTCTGATGACTGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900311 74900312 74900312 exon 24 0.2857143 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGAAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant NA NA NA NA NA 794 310 0.9969545 0.9933821 0.9951683 NA NA 0.9724419 0.9966348 NA NA 0.02451257 -0.003252751 NA 0.9845384 NA 0.01062991 NA FALSE NA 1 2.54 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 10/12 1 NA GGA G,A 8.236e-06 14:74900312 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 synonymous_variant 1.500668 0.972 0.93649 0.706548 0.7656663 0 0.9503937 TRUE 4.06454e-06 ENSE00001642210_009 ENSE00001642210 009 14 75366944 75367113 + 48 84 38 A G 75367017 1096 74 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACACTCCTGATGACTGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900313 74900314 74900314 exon 26 0.3095238 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAGTGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant 45 40 1 1 1 133 1524 1 0.9981304 0.9990652 NA NA 0.9724419 0.9966348 NA NA 0.02755809 0.001495592 NA 0.9845384 NA 0.01452684 NA FALSE NA 1 5.561 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 10/12 1 NA AAT A,G 8.236e-06 14:74900314 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 missense_variant 4.266955 0.98751 0.98317 0.706548 0.9972971 0 0.9503937 TRUE 4.06402e-06 ENSE00001642210_010 ENSE00001642210 010 14 75366944 75367113 + 48 84 38 A G 75367023 1097 80 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTCCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900319 74900320 74900320 exon 32 0.3809524 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGGAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant 13 18 1 0.9985693 0.9992847 62 298 1 0.9955984 0.9977992 NA NA 0.9724419 0.9966348 NA NA 0.02755809 -0.001036469 NA 0.9845384 NA 0.01326081 NA FALSE NA 1 7.581 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 10/12 1 NA GAA A,G 8.236e-06 14:74900320 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 missense_variant 7.01405 0.99282 0.99331 0.706548 0.999247 0 0.9503937 TRUE NA ENSE00001642210_011 ENSE00001642210 011 14 75366944 75367113 + 48 84 38 C T 75367026 1098 83 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAACTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900322 74900323 74900323 exon 35 0.4166667 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGTTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant NA NA NA NA NA 435 98 0.9896224 1 0.9948112 NA NA 0.9724419 0.9966348 NA NA 0.01718049 0.003365171 NA 0.9845384 NA 0.01027283 NA FALSE NA 0 0.564 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 10/12 1 NA GCT C,T 8.236e-06 14:74900323 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 missense_variant 4.064105 0.27988 0.21804 0.706548 0.9954892 0 0.9503937 TRUE 4.06365e-06 ENSE00001642210_012 ENSE00001642210 012 14 75366944 75367113 + 48 84 38 G A 75367037 1099 94 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGTAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900333 74900334 74900334 exon -39 0.547619 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTACAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant 14 21 1 1 1 202 151 0.9860546 1 0.9930273 NA NA 0.9724419 0.9966348 NA NA 0.01361271 0.003365171 NA 0.9845384 NA 0.008488941 NA FALSE NA 1 7.958 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 10/12 1 NA TGC G,A 8.236e-06 14:74900334 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 missense_variant 5.864356 0.9945 0.99424 0.706548 0.9988167 0 0.9503937 TRUE 4.06293e-06 ENSE00001642210_014 ENSE00001642210 014 14 75366944 75367113 + 48 84 38 G A 75367050 1101 107 CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCTGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900346 74900347 74900347 exon -26 0.702381 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACAGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant NA NA NA NA NA 118 275 1 1 1 NA NA 0.9724419 0.9966348 NA NA 0.02755809 0.003365171 NA 0.9845384 NA 0.01546163 NA FALSE NA 1 4.497 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 10/12 rs201581688 1 NA CGG G,A 1.647e-05 14:74900347 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 missense_variant 3.949229 0.98464 0.96995 0.706548 0.9906285 0 0.9503937 TRUE 2.84456e-05 ENSE00001642210_017 ENSE00001642210 017 14 75366944 75367113 + 48 84 38 A G 75367089 1104 146 CGCCTGCTTAGCAGCTTGTATACACCTTTCTACTTTACCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCCTGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 74900385 74900386 74900386 downstr_intron 14 1.378378 AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGGTGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG mutant 13 15 0.9976072 0.9992262 0.9984167 NA NA NA NA NA NA NA 0.9724419 0.9966348 NA NA NA NA NA 0.9845384 NA NA NA NA NA 0 -1.656 . intron_variant&NMD_transcript_variant MODIFIER DLST HGNC 2911 ENST00000554612 10/11 rs373779680 1 NA G:0.0007 G:0 GAT A,G 4.118e-05 14:74900386 DLST HGNC Symbol protein_coding 21854 ENSG00000119689 ENSE00003579414 intron_variant 0.678681 0.12203 0.00953 0.099367 0.6905849 0.186787 0.9503937 TRUE 3.66369e-05 ENSE00001642210_BRK ENSE00001642210 BRK 14 75366944 75367113 + 48 84 38 A,G; T,T NA NA NA CGCCTGCTTAGCAGCTTGTATACATCTTTCTACTTTGGCTTCTCTCCCAGTTCAGTGATGGTCCGTTCAATATCTGCAAAATTCATAGCTTCCACATTCCTGATGACTGGAACCACCAGACCAAGAAGGGGGTGAAAAGCTGTTTTCAGTTGCAAATTAATAGTACCTTT 74900240 74900410 NA NA NA NA NA NA AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCTTGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGCCAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG AAAGGTACTATTAATTTGCAACTGAAAACAGCTTTTCACCCCCTTCAGGGTCTGGTGGTTCCAGTCATCAGGAATGTGGAAGCTATGAATTTTGCAGATATTGAACGGACCATCACTGAACTGGGAGAGAAGGTAAAGTAGAAAGATGTATACAAGCTGCTAAGCAGGCG control 76 202 0 0 0 75 402 0.02524624 0 0.01262312 NA NA 0.9724419 0.9966348 NA NA -0.9471957 -0.9966348 NA 0.9845384 NA -0.9719153 NA TRUE NA NA NA NA NA NA DLST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DLST NA NA NA ENSG00000119689 ENSE00003579414 NA NA NA NA NA NA NA 0.9503937 TRUE NA ENSE00001642361_000 ENSE00001642361 000 12 31249204 31249373 + 71 39 60 NA NA NA NA NA TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT 31096269 31096439 NA NA NA NA NA NA TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT natural 26 46 0.85 0.85 0.85 1381 2467 0.819414 0.8050086 0.8122113 0.85 0.85 0.819414 0.8050086 0 0 0 0 0.85 0.8122113 0 0 0 FALSE FALSE NA NA NA NA NA DDX11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX11 NA NA NA ENSG00000013573 ENSE00003603262 NA NA NA NA NA NA NA NA NA NA ENSE00001642361_001 ENSE00001642361 001 12 31249204 31249373 + 71 39 60 T C 31249225 919 22 TTTGTTTTGTTTTTAAGATTACAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT 31096269 31096439 31096290 31096291 31096291 upstr_intron -50 -0.6901408 TTTGTTTTGTTTTTAAGATTACAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT mutant NA NA NA NA NA 197 655 0.8777051 0.9551423 0.9164237 0.85 0.85 0.819414 0.8050086 NA NA 0.05829106 0.1501338 0.85 0.8122113 NA 0.1042124 NA FALSE NA 0 -0.078 rs9788047 upstream_gene_variant MODIFIER DDX11 HGNC 2736 ENST00000542661 rs9788047 1 NA ATA C,C 0.27 12:31096291 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003603262 intron_variant -0.066041 0.05472 6e-05 0.256867 0.6113684 0.046323 NA NA 0.327726 ENSE00001642361_002 ENSE00001642361 002 12 31249204 31249373 + 71 39 60 G C 31249227 920 24 TTTGTTTTGTTTTTAAGATTATACCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT 31096269 31096439 31096292 31096293 31096293 upstr_intron -48 -0.6619718 TTTGTTTTGTTTTTAAGATTATACCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT mutant NA NA NA NA NA 53 399 0.8 0.8377578 0.8188789 0.85 0.85 0.819414 0.8050086 NA NA -0.019414 0.03274922 0.85 0.8122113 NA 0.006667606 NA FALSE NA 0 0.116 . upstream_gene_variant MODIFIER DDX11 HGNC 2736 ENST00000542661 1 NA AGC G,C 1.705e-05 12:31096293 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003603262 intron_variant -0.433634 0.11474 0.01842 0.256867 0.5565039 0.046323 NA NA 4.60859e-06 ENSE00001642361_006 ENSE00001642361 006 12 31249204 31249373 + 71 39 60 A G 31249235 924 32 TTTGTTTTGTTTTTAAGATTATAGCTTGCTCGGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT 31096269 31096439 31096300 31096301 31096301 upstr_intron -40 -0.5492958 TTTGTTTTGTTTTTAAGATTATAGCTTGCTCGGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT mutant NA NA NA NA NA 81 139 0.7937243 0.8018161 0.7977702 0.85 0.85 0.819414 0.8050086 NA NA -0.02568967 -0.003192448 0.85 0.8122113 NA -0.01444106 NA FALSE NA 0 -3.177 . upstream_gene_variant MODIFIER DDX11 HGNC 2736 ENST00000542661 rs368402493 1 NA G:0 G:0.0001 CAG A,G 2.533e-05 12:31096301 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003603262 intron_variant -0.314013 0.06902 0.00367 0.256867 0.3954359 0.046875 NA NA 1.36839e-05 ENSE00001642361_007 ENSE00001642361 007 12 31249204 31249373 + 71 39 60 T A 31249244 925 41 TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACACATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT 31096269 31096439 31096309 31096310 31096310 upstr_intron -31 -0.4225352 TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACACATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT mutant NA NA NA NA NA 101 43 0.9090954 0.8 0.8545477 0.85 0.85 0.819414 0.8050086 NA NA 0.08968135 -0.005008573 0.85 0.8122113 NA 0.04233639 NA FALSE NA 0 -2.926 rs9788048 upstream_gene_variant MODIFIER DDX11 HGNC 2736 ENST00000542661 rs9788048 1 NA CTC A,A 0.284 12:31096310 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003603262 intron_variant 0.307126 0.07875 0.00271 0.256867 0.3527817 0.046875 NA NA 0.342327 ENSE00001642361_009 ENSE00001642361 009 12 31249204 31249373 + 71 39 60 G A 31249255 927 52 TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAACTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT 31096269 31096439 31096320 31096321 31096321 upstr_intron -20 -0.2676056 TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAACTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT mutant NA NA NA NA NA 169 11 0.9935908 0.9964635 0.9950272 0.85 0.85 0.819414 0.8050086 NA NA 0.1741768 0.1914549 0.85 0.8122113 NA 0.1828159 NA FALSE NA 0 0.203 . upstream_gene_variant MODIFIER DDX11 HGNC 2736 ENST00000542661 1 NA AGC G,A 1.656e-05 12:31096321 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003603262 intron_variant 0.509511 0.10555 0.0127 0.256867 0.6809691 0.046875 NA NA NA ENSE00001642361_012 ENSE00001642361 012 12 31249204 31249373 + 71 39 60 C G 31249342 930 139 TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAAGAAGACCCAGCTGTGCCCCAACCCCCTGCCCT 31096269 31096439 31096407 31096408 31096408 downstr_intron 29 1.491525 TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAAGAAGACCCAGCTGTGCCCCAACCCCCTGCCCT TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT mutant NA NA NA NA NA 24 496 0.9834708 0.9732655 0.9783682 0.85 0.85 0.819414 0.8050086 NA NA 0.1640568 0.168257 0.85 0.8122113 NA 0.1661569 NA FALSE NA 0 -5.247 . upstream_gene_variant MODIFIER DDX11 HGNC 2736 ENST00000542661 1 NA ACA C,G 0.0002141 12:31096408 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003603262 intron_variant -0.402053 0.06923 0.00405 0.115753 0.445509 0.0549928 NA NA 1.62661e-05 ENSE00001642361_BRK ENSE00001642361 BRK 12 31249204 31249373 + 71 39 60 A,G; T,T NA NA NA TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCTTGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGCCAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT 31096269 31096439 NA NA NA NA NA NA TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCTTGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGCCAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT TTTGTTTTGTTTTTAAGATTATAGCTTGCTCAGTTTGCACTCATGCCTACAGCTGGGCTTGGTTTTTGCAGGTGCAGCGATACTGTGAGAAGAGCATGATCAGCAGAAAGGTAACTGCTCCCATCTTGTGGTCCTGAACAAGACCCAGCTGTGCCCCAACCCCCTGCCCT control NA NA NA NA NA 75 62 0 0 0 0.85 0.85 0.819414 0.8050086 NA NA -0.819414 -0.8050086 0.85 0.8122113 NA -0.8122113 NA TRUE NA NA NA NA NA NA DDX11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX11 NA NA NA ENSG00000013573 ENSE00003603262 NA NA NA NA NA NA NA NA NA NA ENSE00001642461_000 ENSE00001642461 000 9 82320741 82320910 + 63 54 53 NA NA NA NA NA CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT 79705825 79705995 NA NA NA NA NA NA CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT natural 55 127 0.798508 0.85 0.824254 2965 1404 0.6785463 0.8178334 0.7481898 0.798508 0.85 0.6785463 0.8178334 0 0 0 0 0.824254 0.7481898 0 0 0 FALSE FALSE NA NA NA NA NA TLE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE4 NA NA NA ENSG00000106829 ENSE00003465046 NA NA NA NA NA NA NA 0.9999216 TRUE NA ENSE00001642461_005 ENSE00001642461 005 9 82320741 82320910 + 63 54 53 C T 82320845 657 105 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGATGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT 79705825 79705995 79705929 79705930 79705930 exon -13 0.7777778 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGATGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT mutant NA NA NA NA NA 293 741 0.1468185 0.112762 0.1297902 0.798508 0.85 0.6785463 0.8178334 NA NA -0.5317277 -0.7050714 0.824254 0.7481898 NA -0.6183996 NA TRUE NA 0.041 -0.547 . 5_prime_UTR_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 11/21 rs368395841 1 NA T:0 T:0.0001 ACG C,T 2.482e-05 9:79705930 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003465046 synonymous_variant 2.12733 0.97288 0.21359 0.732398 0.6395371 0 0.9999216 TRUE 1.21828e-05 ENSE00001642461_008 ENSE00001642461 008 9 82320741 82320910 + 63 54 53 G A 82320866 660 126 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTATGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT 79705825 79705995 79705950 79705951 79705951 downstr_intron 9 1.173077 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTATGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT mutant NA NA NA NA NA 176 1782 0.8 0.6469379 0.723469 0.798508 0.85 0.6785463 0.8178334 NA NA 0.1214537 -0.1708955 0.824254 0.7481898 NA -0.02472087 NA FALSE NA 0 -0.357 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 11/20 1 NA TGT G,A 1.655e-05 9:79705951 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003465046 intron_variant 0.327255 0.15346 0.00891 0.099367 0.5382275 0.0536794 0.9999216 TRUE 1.21834e-05 ENSE00001642461_010 ENSE00001642461 010 9 82320741 82320910 + 63 54 53 A C 82320887 662 147 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCCCTTGCCCAGCCATATCAAAGACT 79705825 79705995 79705971 79705972 79705972 downstr_intron 30 1.576923 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCCCTTGCCCAGCCATATCAAAGACT CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT mutant NA NA NA NA NA 45 261 0.8 0.8 0.8 0.798508 0.85 0.6785463 0.8178334 NA NA 0.1214537 -0.0178334 0.824254 0.7481898 NA 0.05181016 NA FALSE NA 0 0.254 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:79705972 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003465046 intron_variant 0.068451 0.22546 0.02706 0.099367 0.1143805 0.046323 0.9999216 TRUE NA ENSE00001642461_011 ENSE00001642461 011 9 82320741 82320910 + 63 54 53 C T 82320888 663 148 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCATTTGCCCAGCCATATCAAAGACT 79705825 79705995 79705972 79705973 79705973 downstr_intron 31 1.596154 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCATTTGCCCAGCCATATCAAAGACT CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT mutant NA NA NA NA NA 692 59 0.8271746 0.8024487 0.8148116 0.798508 0.85 0.6785463 0.8178334 NA NA 0.1486283 -0.01538472 0.824254 0.7481898 NA 0.0666218 NA FALSE NA 0 -0.169 NA NA NA TLE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:79705973 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003465046 intron_variant 0.198817 0.23795 0.03808 0.099367 0.6433578 0.046323 0.9999216 TRUE 0.000382895 ENSE00001642461_013 ENSE00001642461 013 9 82320741 82320910 + 63 54 53 C A 82320893 665 153 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCACAGCCATATCAAAGACT 79705825 79705995 79705977 79705978 79705978 downstr_intron 36 1.692308 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCACAGCCATATCAAAGACT CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT mutant NA NA NA NA NA 1216 102 0.8169089 0.842938 0.8299234 0.798508 0.85 0.6785463 0.8178334 NA NA 0.1383627 0.02510455 0.824254 0.7481898 NA 0.0817336 NA FALSE NA 0 -0.235 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 11/20 1 NA CCC C,A 1.659e-05 9:79705978 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003465046 intron_variant 0.2631 0.17604 0.04212 0.099367 0.5690541 0.046323 0.9999216 TRUE 8.12427e-06 ENSE00001642461_014 ENSE00001642461 014 9 82320741 82320910 + 63 54 53 C G 82320894 666 154 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCGAGCCATATCAAAGACT 79705825 79705995 79705978 79705979 79705979 downstr_intron 37 1.711538 CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCGAGCCATATCAAAGACT CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT mutant NA NA NA NA NA 2147 648 0.7563507 0.8003902 0.7783704 0.798508 0.85 0.6785463 0.8178334 NA NA 0.07780441 -0.01744325 0.824254 0.7481898 NA 0.03018058 NA FALSE NA 0 -0.152 . intron_variant MODIFIER TLE4 HGNC 11840 ENST00000376534 11/20 1 NA CCA C,G 1.655e-05 9:79705979 TLE4 HGNC Symbol protein_coding 155109 ENSG00000106829 ENSE00003465046 intron_variant 0.17582 0.25915 0.22437 0.099367 0.5377626 0.046323 0.9999216 TRUE 1.21869e-05 ENSE00001642461_BRK ENSE00001642461 BRK 9 82320741 82320910 + 63 54 53 A,G; T,T NA NA NA CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCTTGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGCCATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT 79705825 79705995 NA NA NA NA NA NA CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCTTGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGCCATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT CTTAGGGTAAATGTGGTATGTTTTGTGAGGGGAGAAGATAATGCTTCTCACTTGTCAATGCAGGACAGCGATGGTGAGAAAAGTGATGACAACTTGGTGGTTGACGTTTCCAATGAGGTATGTTTGTGGCTACTTTAATTTTTTGCACTTGCCCAGCCATATCAAAGACT control NA NA NA NA NA 374 212 0 0.05704125 0.02852063 0.798508 0.85 0.6785463 0.8178334 NA NA -0.6785463 -0.7607921 0.824254 0.7481898 NA -0.7196692 NA TRUE NA NA NA NA NA NA TLE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE4 NA NA NA ENSG00000106829 ENSE00003465046 NA NA NA NA NA NA NA 0.9999216 TRUE NA ENSE00001642477_000 ENSE00001642477 000 18 47367700 47367869 - 35 90 45 NA NA NA NA NA AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 NA NA NA NA NA NA AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT natural 25 28 0.9985502 1 0.9992751 2482 1779 0.994253 0.9506756 0.9724643 0.9985502 1 0.994253 0.9506756 0 0 0 0 0.9992751 0.9724643 0 0 0 FALSE FALSE NA NA NA NA NA SCARNA17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNHG22 NA NA NA ENSG00000267322 ENSE00001642477 NA NA NA NA NA NA NA NA NA NA ENSE00001642477_BRK ENSE00001642477 BRK 18 47367700 47367869 - 35 90 45 A,G; T,T NA NA NA AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACTTAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGCCGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 NA NA NA NA NA NA AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACTTAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGCCGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT control 35 64 0 0 0 NA NA NA NA NA 0.9985502 1 0.994253 0.9506756 -0.9985502 -1 NA NA 0.9992751 0.9724643 -0.9992751 NA NA NA TRUE NA NA NA NA NA SCARNA17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNHG22 NA NA NA ENSG00000267322 ENSE00001642477 NA NA NA NA NA NA NA NA NA NA ENSE00001643037_000 ENSE00001643037 000 1 103463813 103463982 - 53 54 63 NA NA NA NA NA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 NA NA NA NA NA NA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA natural NA NA NA NA NA 6525 4180 0.8989813 0.9098174 0.9043994 NA NA 0.8989813 0.9098174 NA NA 0 0 NA 0.9043994 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001643037 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001643037_001 ENSE00001643037 001 1 103463813 103463982 - 53 54 63 T C 103463828 2906 155 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACGTTATCTTTAAAAATA 102998256 102998426 102998271 102998272 102998272 downstr_intron 38 1.730769 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACGTTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 796 89 0.9994446 0.994698 0.9970713 NA NA 0.8989813 0.9098174 NA NA 0.1004633 0.0848806 NA 0.9043994 NA 0.09267193 NA FALSE NA 0 -0.874 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:102998272 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 intron_variant 0.231517 0.19953 0.03667 0.061011 0.801306 0.0641209 0.9999806 TRUE 3.69728e-05 ENSE00001643037_003 ENSE00001643037 003 1 103463813 103463982 - 53 54 63 G T 103463834 2908 149 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTATTTACATTATCTTTAAAAATA 102998256 102998426 102998277 102998278 102998278 downstr_intron 32 1.615385 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTATTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 1395 351 0.9987888 0.9991279 0.9989583 NA NA 0.8989813 0.9098174 NA NA 0.09980748 0.08931046 NA 0.9043994 NA 0.09455897 NA FALSE NA 0.002 0.943 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 23/64 1 NA AGA G,T 8.24e-06 1:102998278 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 intron_variant 0.034102 0.22659 0.19417 0.061011 0.5934556 0.0648037 0.9999806 TRUE 1.22967e-05 ENSE00001643037_005 ENSE00001643037 005 1 103463813 103463982 - 53 54 63 T A 103463839 2910 144 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAATATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998282 102998283 102998283 downstr_intron 27 1.519231 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAATATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 371 283 0.9987734 0.9272025 0.9629879 NA NA 0.8989813 0.9098174 NA NA 0.09979208 0.01738507 NA 0.9043994 NA 0.05858858 NA FALSE NA 0 -0.207 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 23/64 1 NA TTT T,A 1.648e-05 1:102998283 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 intron_variant 0.720182 0.20161 0.11486 0.061011 0.7032653 0.0648037 0.9999806 TRUE 1.22731e-05 ENSE00001643037_007 ENSE00001643037 007 1 103463813 103463982 - 53 54 63 A G 103463849 2912 134 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCCGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998292 102998293 102998293 downstr_intron 17 1.326923 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCCGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 413 214 0.997787 0.9761632 0.9869751 NA NA 0.8989813 0.9098174 NA NA 0.09880565 0.06634583 NA 0.9043994 NA 0.08257574 NA FALSE NA 0.001 1.166 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 23/64 1 NA CAG A,G 2.472e-05 1:102998293 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 intron_variant 0.135375 0.24041 0.12155 0.061011 0.5823438 0.0648037 0.9999806 TRUE 8.161e-06 ENSE00001643037_008 ENSE00001643037 008 1 103463813 103463982 - 53 54 63 G A 103463851 2913 132 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTATCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998294 102998295 102998295 downstr_intron 15 1.288462 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTATCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 27 24 1 0.9207824 0.9603912 NA NA 0.8989813 0.9098174 NA NA 0.1010187 0.01096495 NA 0.9043994 NA 0.05599182 NA FALSE NA 0 0.026 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 23/64 1 NA GGT G,A 2.472e-05 1:102998295 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 intron_variant 0.042802 0.18194 0.01372 0.061011 0.3703979 0.0648037 0.9999806 TRUE 2.03917e-05 ENSE00001643037_009 ENSE00001643037 009 1 103463813 103463982 - 53 54 63 T C 103463859 2914 124 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTGACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998302 102998303 102998303 downstr_intron 7 1.134615 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTGACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 60 110 0.7680339 0.8544487 0.8112413 NA NA 0.8989813 0.9098174 NA NA -0.1309474 -0.05536868 NA 0.9043994 NA -0.09315804 NA FALSE NA 0.01 0.027 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 23/64 1 NA TTA T,C 7.416e-05 1:102998303 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 splice_region_variant -0.11906 0.21857 0.03708 0.061011 0.6139299 0.128875 0.9999806 TRUE 5.70474e-05 ENSE00001643037_010 ENSE00001643037 010 1 103463813 103463982 - 53 54 63 G A 103463868 2915 115 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTTCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998311 102998312 102998312 exon -3 0.962963 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTTCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 89 210 0.9915472 0.9846317 0.9880895 NA NA 0.8989813 0.9098174 NA NA 0.09256591 0.07481428 NA 0.9043994 NA 0.0836901 NA FALSE NA 1 6.035 . missense_variant&splice_region_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 23/65 rs375443900 1 probably_damaging(0.968) NA A:0 A:0.0001 GGA G,A 1.648e-05 1:102998312 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 missense_variant 4.575386 0.99598 0.98979 0.693126 0.998937 0 0.9999806 TRUE 8.15089e-06 ENSE00001643037_011 ENSE00001643037 011 1 103463813 103463982 - 53 54 63 A G 103463869 2916 114 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCCCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998312 102998313 102998313 exon -4 0.9444444 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCCCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 467 388 0.8075185 0.8091392 0.8083288 NA NA 0.8989813 0.9098174 NA NA -0.09146278 -0.1006783 NA 0.9043994 NA -0.09607052 NA FALSE NA 1 1.526 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 23/65 1 NA GAG A,G 8.24e-06 1:102998313 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 synonymous_variant 1.001583 0.97871 0.90701 0.693126 0.7556567 0 0.9999806 TRUE 4.07485e-06 ENSE00001643037_012 ENSE00001643037 012 1 103463813 103463982 - 53 54 63 G A 103463871 2917 112 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGTCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998314 102998315 102998315 exon -6 0.9074074 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGTCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 89 197 0.8029229 0.8154525 0.8091877 NA NA 0.8989813 0.9098174 NA NA -0.09605838 -0.09436489 NA 0.9043994 NA -0.09521163 NA FALSE NA 1 9.112 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 23/65 1 probably_damaging(0.968) NA GGC G,A 8.24e-06 1:102998315 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 missense_variant 3.678083 0.99598 0.99535 0.693126 0.9987341 0 0.9999806 TRUE 8.15016e-06 ENSE00001643037_014 ENSE00001643037 014 1 103463813 103463982 - 53 54 63 A G 103463888 2919 95 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACCTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998331 102998332 102998332 exon -23 0.5925926 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACCTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 234 270 0.9898394 0.9801631 0.9850012 NA NA 0.8989813 0.9098174 NA NA 0.09085812 0.07034564 NA 0.9043994 NA 0.08060188 NA FALSE NA 1 8.619 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 23/65 1 probably_damaging(0.979) NA AAG A,G 1.648e-05 1:102998332 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 missense_variant 4.8521 0.99491 0.99561 0.693126 0.9990245 0 0.9999806 TRUE NA ENSE00001643037_017 ENSE00001643037 017 1 103463813 103463982 - 53 54 63 C T 103463910 2922 73 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAAGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998353 102998354 102998354 exon 10 0.1851852 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAAGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 174 117 0.9751823 0.9903402 0.9827613 NA NA 0.8989813 0.9098174 NA NA 0.07620098 0.08052282 NA 0.9043994 NA 0.0783619 NA FALSE NA 1 5.505 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 23/65 1 probably_damaging(0.996) NA CCT C,T 8.249e-06 1:102998354 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 missense_variant 5.557455 0.99671 0.972 0.693126 0.9993517 0 0.9999806 TRUE NA ENSE00001643037_018 ENSE00001643037 018 1 103463813 103463982 - 53 54 63 T C 103463912 2923 71 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACGAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998355 102998356 102998356 exon 8 0.1481481 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACGAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 599 1026 0.9994491 0.9998458 0.9996474 NA NA 0.8989813 0.9098174 NA NA 0.1004678 0.09002842 NA 0.9043994 NA 0.09524809 NA FALSE NA 1 4.549 rs142524348 missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 23/65 rs142524348 1 possibly_damaging(0.693) NA C:0.0007 C:0 TTG T,C 4.125e-05 1:102998356 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 missense_variant 2.154107 0.9919 0.9532 0.638212 0.9954056 0 0.9999806 TRUE 2.47388e-05 ENSE00001643037_020 ENSE00001643037 020 1 103463813 103463982 - 53 54 63 T C 103463924 2925 59 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTGTAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998367 102998368 102998368 upstr_intron -5 -0.06349206 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTGTAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 503 1313 0.9769169 0.9802474 0.9785821 NA NA 0.8989813 0.9098174 NA NA 0.07793557 0.07042996 NA 0.9043994 NA 0.07418276 NA FALSE NA 0 -2.482 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 22/64 COSM1954064&COSM1954065 1 NA ATA T,C 2.494e-05 1:102998368 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 splice_region_variant 0.171851 0.20902 0.07062 0.061011 0.608303 0.094275 0.9999806 TRUE 1.85401e-05 ENSE00001643037_021 ENSE00001643037 021 1 103463813 103463982 - 53 54 63 A G 103463925 2926 58 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCCATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998368 102998369 102998369 upstr_intron -6 -0.07936508 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCCATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 161 130 0.9997441 0.9987815 0.9992628 NA NA 0.8989813 0.9098174 NA NA 0.1007628 0.08896408 NA 0.9043994 NA 0.09486344 NA FALSE NA 0 0.205 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 22/64 1 NA TAG A,G 8.338e-06 1:102998369 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 splice_region_variant 0.156981 0.30207 0.31303 0.061011 0.6342413 0.0983901 0.9999806 TRUE 4.75159e-06 ENSE00001643037_023 ENSE00001643037 023 1 103463813 103463982 - 53 54 63 T C 103463941 2928 42 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAGTATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998384 102998385 102998385 upstr_intron -22 -0.3333333 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAGTATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant 94 21 0 0 0 403 187 0 0 0 NA NA 0.8989813 0.9098174 NA NA -0.8989813 -0.9098174 NA 0.9043994 NA -0.9043994 NA TRUE NA 0.002 1.286 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 22/64 1 NA ATT T,C 8.85e-06 1:102998385 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 intron_variant 0.320337 0.33695 0.7894 0.061011 0.7477584 0.0448725 0.9999806 TRUE 1.12057e-05 ENSE00001643037_024 ENSE00001643037 024 1 103463813 103463982 - 53 54 63 A C 103463947 2929 36 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCGTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 102998390 102998391 102998391 upstr_intron -28 -0.4285714 TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCGTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA mutant NA NA NA NA NA 963 1138 0.9986244 0.9996263 0.9991254 NA NA 0.8989813 0.9098174 NA NA 0.09964311 0.08980891 NA 0.9043994 NA 0.09472601 NA FALSE NA 0.268 0.97 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 22/64 1 NA AAG A,C 2.813e-05 1:102998391 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001643037 intron_variant 0.218145 0.21453 0.12781 0.061011 0.7191397 0.0455939 0.9999806 TRUE 2.50988e-05 ENSE00001643037_BRK ENSE00001643037 BRK 1 103463813 103463982 - 53 54 63 A,G; T,T NA NA NA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATATTGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTCCAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA 102998256 102998426 NA NA NA NA NA NA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATATTGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTCCAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA TGTACACGTTAAAGCTTTTTAAAATTATTTTTATCTTTTTAATATTTTTTTTTTCTCTATAAGGGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCTGTAAGTAACAGCTACCTGGTCATTAAAATTTCTTTACATTATCTTTAAAAATA control NA NA NA NA NA 1663 170 0.02355905 0.002981424 0.01327024 NA NA 0.8989813 0.9098174 NA NA -0.8754223 -0.906836 NA 0.9043994 NA -0.8911291 NA TRUE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001643037 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001644049_000 ENSE00001644049 000 9 117015096 117015265 + 63 54 53 NA NA NA NA NA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 NA NA NA NA NA NA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA natural 106 118 0.9919881 0.9964496 0.9942189 3125 5473 0.9628782 0.9963393 0.9796087 0.9919881 0.9964496 0.9628782 0.9963393 0 0 0 0 0.9942189 0.9796087 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003475888 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001644049_001 ENSE00001644049 001 9 117015096 117015265 + 63 54 53 G A 117015109 1859 14 AGGTGGGACTGAAAGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252828 114252829 114252829 upstr_intron -50 -0.7777778 AGGTGGGACTGAAAGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 108 481 1 0.9962754 0.9981377 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03712183 -6.38493e-05 0.9942189 0.9796087 NA 0.01852899 NA FALSE NA 0.127 1.068 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 23/57 1 NA AGG G,A 8.236e-06 9:114252829 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.798757 0.64449 0.37245 0.126639 0.8420407 0.0799581 0.9999994 TRUE 8.13617e-06 ENSE00001644049_002 ENSE00001644049 002 9 117015096 117015265 + 63 54 53 G T 117015116 1860 21 AGGTGGGACTGAAGGAGGAATCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252835 114252836 114252836 upstr_intron -43 -0.6666667 AGGTGGGACTGAAGGAGGAATCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 1548 497 0.9979146 1 0.9989573 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03503641 0.003660748 0.9942189 0.9796087 NA 0.01934858 NA FALSE NA 0.006 -0.046 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 23/57 1 NA AGC G,T 8.236e-06 9:114252836 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.391693 0.46316 0.13958 0.126639 0.8293353 0.0448725 0.9999994 TRUE 4.06511e-06 ENSE00001644049_003 ENSE00001644049 003 9 117015096 117015265 + 63 54 53 T C 117015127 1861 32 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCCGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252846 114252847 114252847 upstr_intron -32 -0.4920635 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCCGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 1134 845 0.9981987 0.9984079 0.9983033 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.0353205 0.002068685 0.9942189 0.9796087 NA 0.01869459 NA FALSE NA 0.304 0.992 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 23/57 1 NA CTG T,C 8.236e-06 9:114252847 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.104403 0.20781 0.14727 0.126639 0.4327681 0.10163 0.9999994 TRUE 4.06326e-06 ENSE00001644049_004 ENSE00001644049 004 9 117015096 117015265 + 63 54 53 A T 117015129 1862 34 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGTTTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252848 114252849 114252849 upstr_intron -30 -0.4603175 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGTTTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 205 204 0.9993962 0.9895643 0.9944803 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03651802 -0.006774936 0.9942189 0.9796087 NA 0.01487154 NA FALSE NA 0.333 0.806 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 23/57 1 NA GAT A,T 8.236e-06 9:114252849 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant -0.083606 0.22983 0.23082 0.126639 0.5539637 0.10163 0.9999994 TRUE 4.06293e-06 ENSE00001644049_005 ENSE00001644049 005 9 117015096 117015265 + 63 54 53 C T 117015136 1863 41 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCTTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252855 114252856 114252856 upstr_intron -23 -0.3492063 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCTTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 568 1627 0.9887373 0.9972277 0.9929825 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.02585915 0.0008884603 0.9942189 0.9796087 NA 0.01337381 NA FALSE NA 0 -0.375 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 23/57 1 NA CCT C,T 8.236e-06 9:114252856 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.16342 0.1892 0.08323 0.126639 0.3449486 0.10163 0.9999994 TRUE 1.21878e-05 ENSE00001644049_006 ENSE00001644049 006 9 117015096 117015265 + 63 54 53 G A 117015155 1864 60 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGACAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252874 114252875 114252875 upstr_intron -4 -0.04761905 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGACAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 465 1529 0.9963139 0.9973385 0.9968262 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03343575 0.0009992163 0.9942189 0.9796087 NA 0.01721749 NA FALSE NA 0.019 -0.113 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114252875 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 splice_region_variant 0.453531 0.20158 0.07457 0.126639 0.6875123 0.147786 0.9999994 TRUE 3.65634e-05 ENSE00001644049_007 ENSE00001644049 007 9 117015096 117015265 + 63 54 53 G T 117015155 1865 60 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGTCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252874 114252875 114252875 upstr_intron -4 -0.04761905 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGTCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 1296 412 0.9975945 1 0.9987972 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03471629 0.003660748 0.9942189 0.9796087 NA 0.01918852 NA FALSE NA 0.019 -0.113 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003475888 splice_region_variant 0.320135 0.20457 0.09792 0.126639 0.7027235 0.147786 0.9999994 TRUE 1.62504e-05 ENSE00001644049_008 ENSE00001644049 008 9 117015096 117015265 + 63 54 53 A G 117015163 1866 68 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCGTCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252882 114252883 114252883 exon 5 0.09259259 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCGTCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 301 191 0.9802735 1 0.9901368 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.01739533 0.003660748 0.9942189 0.9796087 NA 0.01052804 NA FALSE NA 1 4.01 rs7038559 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/58 rs7038559 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0009 G:0 CAT A,G 0.0001318 9:114252883 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 missense_variant 3.469085 0.92905 0.77804 0.634777 0.9785388 0 0.9999994 TRUE 0.000117817 ENSE00001644049_009 ENSE00001644049 009 9 117015096 117015265 + 63 54 53 A G 117015176 1867 81 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCGGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252895 114252896 114252896 exon 18 0.3333333 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCGGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 2070 396 0.9976385 0.9807515 0.989195 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03476031 -0.01558779 0.9942189 0.9796087 NA 0.009586259 NA FALSE NA 0.146 -0.379 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/58 1 NA CAG A,G 8.236e-06 9:114252896 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 synonymous_variant 0.190149 0.32371 0.20155 0.634777 0.6366987 0 0.9999994 TRUE 4.06352e-06 ENSE00001644049_011 ENSE00001644049 011 9 117015096 117015265 + 63 54 53 G A 117015185 1869 90 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATAGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252904 114252905 114252905 exon 27 0.5 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATAGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 453 59 0.9963324 0.9918719 0.9941021 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.0334542 -0.004467336 0.9942189 0.9796087 NA 0.01449343 NA FALSE NA 0.001 -0.541 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/58 1 NA TGG G,A 8.236e-06 9:114252905 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 missense_variant 1.24971 0.448 0.09829 0.634777 0.8673954 0 0.9999994 TRUE 4.06547e-06 ENSE00001644049_013 ENSE00001644049 013 9 117015096 117015265 + 63 54 53 C A 117015190 1871 95 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGAACCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252909 114252910 114252910 exon -23 0.5925926 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGAACCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 2936 1866 0.9989298 0.9928486 0.9958892 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03605165 -0.003490648 0.9942189 0.9796087 NA 0.0162805 NA FALSE NA 0 -2.187 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114252910 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 missense_variant 0.718195 0.17838 0.03124 0.634777 0.7591345 0 0.9999994 TRUE 1.22053e-05 ENSE00001644049_014 ENSE00001644049 014 9 117015096 117015265 + 63 54 53 T A 117015194 1872 99 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCAGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252913 114252914 114252914 exon -19 0.6666667 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCAGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 82 537 1 0.9021107 0.9510554 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03712183 -0.09422852 0.9942189 0.9796087 NA -0.02855335 NA FALSE NA 0 -2.709 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/58 1 NA CTG T,A 8.236e-06 9:114252914 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 synonymous_variant 1.193312 0.22116 0.04976 0.634777 0.533096 0 0.9999994 TRUE 4.07047e-06 ENSE00001644049_015 ENSE00001644049 015 9 117015096 117015265 + 63 54 53 C T 117015202 1873 107 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCTTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252921 114252922 114252922 exon -11 0.8148148 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCTTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 1885 1691 0.9965345 0.9917975 0.994166 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03365637 -0.004541765 0.9942189 0.9796087 NA 0.0145573 NA FALSE NA 0.921 1.374 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114252922 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 missense_variant 3.629592 0.91119 0.63622 0.626454 0.9260154 0 0.9999994 TRUE 4.07817e-06 ENSE00001644049_016 ENSE00001644049 016 9 117015096 117015265 + 63 54 53 C G 117015202 1874 107 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCGTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252921 114252922 114252922 exon -11 0.8148148 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCGTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 1733 736 0.995231 1 0.9976155 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03235282 0.003660748 0.9942189 0.9796087 NA 0.01800679 NA FALSE NA 0.921 1.374 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003475888 missense_variant 4.108165 0.91175 0.72451 0.626454 0.9768622 0 0.9999994 TRUE 2.85472e-05 ENSE00001644049_017 ENSE00001644049 017 9 117015096 117015265 + 63 54 53 A G 117015206 1875 111 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGGCCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252925 114252926 114252926 exon -7 0.8888889 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGGCCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 841 635 0.9937107 0.9989746 0.9963427 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03083254 0.002635351 0.9942189 0.9796087 NA 0.01673395 NA FALSE NA 1 1.907 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/58 1 NA GAC A,G 8.237e-06 9:114252926 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 synonymous_variant 1.010356 0.89006 0.5742 0.626454 0.7565238 0 0.9999994 TRUE 8.16446e-06 ENSE00001644049_018 ENSE00001644049 018 9 117015096 117015265 + 63 54 53 C T 117015207 1876 112 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGATCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252926 114252927 114252927 exon -6 0.9074074 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGATCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 189 2017 0.9946541 0.9770176 0.9858359 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.0317759 -0.01932163 0.9942189 0.9796087 NA 0.006227137 NA FALSE NA 0.997 1.266 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/58 1 NA ACC C,T 8.237e-06 9:114252927 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 missense_variant 2.152921 0.91092 0.73275 0.626454 0.6312038 0 0.9999994 TRUE 1.63343e-05 ENSE00001644049_019 ENSE00001644049 019 9 117015096 117015265 + 63 54 53 C T 117015227 1877 132 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTTGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252946 114252947 114252947 downstr_intron 15 1.288462 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTTGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 2428 2545 0.9757557 0.9975831 0.9866694 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.01287749 0.001243835 0.9942189 0.9796087 NA 0.007060662 NA FALSE NA 0 -0.105 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 rs201852695 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 6.59e-05 9:114252947 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.072313 0.19454 0.02212 0.06567 0.5654651 0.0978416 0.9999994 TRUE 2.48385e-05 ENSE00001644049_020 ENSE00001644049 020 9 117015096 117015265 + 63 54 53 G A 117015228 1878 133 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCATGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252947 114252948 114252948 downstr_intron 16 1.307692 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCATGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 1387 271 0.9933906 0.9990109 0.9962008 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03051245 0.002671632 0.9942189 0.9796087 NA 0.01659204 NA FALSE NA 0 -4.353 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114252948 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant -1.000595 0.07648 0.00989 0.06567 0.4666093 0.133934 0.9999994 TRUE 7.03905e-05 ENSE00001644049_021 ENSE00001644049 021 9 117015096 117015265 + 63 54 53 G C 117015228 1879 133 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCCTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 114252947 114252948 114252948 downstr_intron 16 1.307692 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCCTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 300 964 0.9911722 0.9841344 0.9876533 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.02829402 -0.01220489 0.9942189 0.9796087 NA 0.008044562 NA FALSE NA 0 -4.353 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003475888 intron_variant -1.328542 0.08103 0.01176 0.06567 0.3981844 0.133934 0.9999994 TRUE 8.28123e-06 ENSE00001644049_022 ENSE00001644049 022 9 117015096 117015265 + 63 54 53 A G 117015245 1880 150 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAGCCACTGTCAGATAAGGGTTA 114252815 114252985 114252964 114252965 114252965 downstr_intron 33 1.634615 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAGCCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 1925 1671 0.9612874 0.9977261 0.9795067 0.9919881 0.9964496 0.9628782 0.9963393 NA NA -0.001590788 0.001386844 0.9942189 0.9796087 NA -0.000101972 NA FALSE NA 0 0.629 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 1 NA AAC A,G 8.239e-06 9:114252965 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.042682 0.16988 0.06461 0.078448 0.7148455 0.0862078 0.9999994 TRUE 8.54642e-06 ENSE00001644049_023 ENSE00001644049 023 9 117015096 117015265 + 63 54 53 C T 117015246 1881 151 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAATCACTGTCAGATAAGGGTTA 114252815 114252985 114252965 114252966 114252966 downstr_intron 34 1.653846 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAATCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 808 114 0.9991309 1 0.9995655 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03625274 0.003660748 0.9942189 0.9796087 NA 0.01995675 NA FALSE NA 0 -0.02 rs114573891 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 rs114573891 1 T:0.0062 T:0.0234 T:0 NA T:0 T:0 T:0 T:0.0159 T:0 ACC C,T 0.001318 9:114252966 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.091956 0.1364 0.0466 0.078448 0.7728603 0.0862078 0.9999994 TRUE 0.00103281 ENSE00001644049_024 ENSE00001644049 024 9 117015096 117015265 + 63 54 53 C T 117015247 1882 152 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACTACTGTCAGATAAGGGTTA 114252815 114252985 114252966 114252967 114252967 downstr_intron 35 1.673077 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACTACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 2144 1844 0.9094929 0.9991916 0.9543422 0.9919881 0.9964496 0.9628782 0.9963393 NA NA -0.05338526 0.002852319 0.9942189 0.9796087 NA -0.02526647 NA FALSE NA 0 0.632 rs182870722 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 rs182870722 1 T:0.0012 T:0.0045 T:0 NA T:0 T:0 T:0 T:0.0034 T:0 CCA C,T 0.0002801 9:114252967 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.37918 0.1741 0.01894 0.078448 0.804272 0.0862078 0.9999994 TRUE 0.000236238 ENSE00001644049_025 ENSE00001644049 025 9 117015096 117015265 + 63 54 53 T A 117015250 1883 155 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACAGTCAGATAAGGGTTA 114252815 114252985 114252969 114252970 114252970 downstr_intron 38 1.730769 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACAGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 1264 701 0.9402764 0.9974571 0.9688668 0.9919881 0.9964496 0.9628782 0.9963393 NA NA -0.02260175 0.001117846 0.9942189 0.9796087 NA -0.01074195 NA FALSE NA 0.001 0.323 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114252970 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.742195 0.17441 0.106 0.078448 0.8623843 0.0862078 0.9999994 TRUE 4.32781e-06 ENSE00001644049_026 ENSE00001644049 026 9 117015096 117015265 + 63 54 53 T C 117015250 1884 155 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACCGTCAGATAAGGGTTA 114252815 114252985 114252969 114252970 114252970 downstr_intron 38 1.730769 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACCGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 874 321 0.9998246 0.9952381 0.9975314 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.03694645 -0.001101153 0.9942189 0.9796087 NA 0.01792265 NA FALSE NA 0.001 0.323 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003475888 intron_variant 0.304403 0.16301 0.0346 0.078448 0.7911506 0.0862078 0.9999994 TRUE 3.02946e-05 ENSE00001644049_027 ENSE00001644049 027 9 117015096 117015265 + 63 54 53 C T 117015253 1885 158 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTTAGATAAGGGTTA 114252815 114252985 114252972 114252973 114252973 downstr_intron 41 1.788462 AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTTAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA mutant NA NA NA NA NA 715 38 0.9915336 0.8066098 0.8990717 0.9919881 0.9964496 0.9628782 0.9963393 NA NA 0.02865544 -0.1897294 0.9942189 0.9796087 NA -0.080537 NA FALSE NA 0 0.541 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 24/57 1 NA TCA C,T 1.648e-05 9:114252973 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003475888 intron_variant 0.509104 0.15276 0.02358 0.078448 0.8562731 0.0862078 0.9999994 TRUE 1.31055e-05 ENSE00001644049_BRK ENSE00001644049 BRK 9 117015096 117015265 + 63 54 53 A,G; T,T NA NA NA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCTTGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGCCAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA 114252815 114252985 NA NA NA NA NA NA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCTTGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGCCAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA AGGTGGGACTGAAGGAGGAAGCTTCCATAGCTGATTCCTCCTTTGTCTTCTCTGTCTTGGCAGGGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAGGTAAGCAAAGCCCTCGTGATCCCTAAGCTCAAACCACTGTCAGATAAGGGTTA control 197 601 0.03299387 0 0.01649693 371 280 0.02285791 0 0.01142896 0.9919881 0.9964496 0.9628782 0.9963393 -0.9589943 -0.9964496 -0.9400203 -0.9963393 0.9942189 0.9796087 -0.9777219 -0.9681798 0.009542178 TRUE TRUE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003475888 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001644164_000 ENSE00001644164 000 12 50532296 50532465 - 54 51 65 NA NA NA NA NA TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 NA NA NA NA NA NA TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG natural 377 350 0.8444872 0.85 0.8472436 3677 7494 0.79846 0.8052723 0.8018661 0.8444872 0.85 0.79846 0.8052723 0 0 0 0 0.8472436 0.8018661 0 0 0 FALSE FALSE NA NA NA NA NA CERS5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS5 NA NA NA ENSG00000139624 ENSE00003697975 NA NA NA NA NA NA NA 1.310677e-05 FALSE NA ENSE00001644541_000 ENSE00001644541 000 20 34219828 34219997 - 39 81 50 NA NA NA NA NA ATAATGGTTGTTTGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTGGGGTAGGAGA 35631905 35632075 NA NA NA NA NA NA ATAATGGTTGTTTGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTGGGGTAGGAGA ATAATGGTTGTTTGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTGGGGTAGGAGA natural NA NA NA NA NA 446 241 0.9644839 0.9821498 0.9733169 NA NA 0.9644839 0.9821498 NA NA 0 0 NA 0.9733169 NA 0 NA FALSE NA NA NA NA NA NA CPNE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE1 NA NA NA ENSG00000214078 ENSE00003492556 NA NA NA NA NA NA NA 3.870951e-07 FALSE NA ENSE00001644541_001 ENSE00001644541 001 20 34219828 34219997 - 39 81 50 C A 34219838 853 160 ATAATGGTTGTTTGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTTGGGTAGGAGA 35631905 35632075 35631915 35631916 35631916 downstr_intron 29 1.763158 ATAATGGTTGTTTGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTTGGGTAGGAGA ATAATGGTTGTTTGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTGGGGTAGGAGA mutant NA NA NA NA NA 158 778 1 0.9769922 0.9884961 NA NA 0.9644839 0.9821498 NA NA 0.03551608 -0.005157588 NA 0.9733169 NA 0.01517925 NA FALSE NA 0 -0.466 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 1 NA CCA C,A 8.237e-06 20:35631916 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003492556 intron_variant -0.303617 0.20553 0.02667 0.295142 0.4986548 0.0666035 3.870951e-07 FALSE 4.08487e-06 ENSE00001644541_023 ENSE00001644541 023 20 34219828 34219997 - 39 81 50 A C 34219985 875 13 ATAATGGTTGTTGGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTGGGGTAGGAGA 35631905 35632075 35632062 35632063 35632063 upstr_intron -38 -0.74 ATAATGGTTGTTGGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTGGGGTAGGAGA ATAATGGTTGTTTGTTCCTGAGTCTTGTAACTGGGGTCTCGCATTGGCAGGACTTCCTGGGAAAATCAGATCCATTTCTGGAGTTCTTCCGCCAGGGTGATGGGAAATGGCACCTGGTGTACAGATCTGAGGTATGAGACCCCTGGGATTGGGTGGGCTGGGGTAGGAGA mutant NA NA NA NA NA 25 51 0.8625954 0.8750389 0.8688171 NA NA 0.9644839 0.9821498 NA NA -0.1018885 -0.1071109 NA 0.9733169 NA -0.1044997 NA FALSE NA 0 0.91 . upstream_gene_variant MODIFIER CPNE1 HGNC 2314 ENST00000415920 rs545992709 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 CAA A,C 4.942e-05 20:35632063 CPNE1 HGNC Symbol protein_coding 38925 ENSG00000214078 ENSE00003492556 intron_variant -0.982588 0.25237 0.26094 0.099367 0.5486595 0.0476178 3.870951e-07 FALSE 4.07677e-05 ENSE00001644701_000 ENSE00001644701 000 12 48377817 48377986 - 53 54 63 NA NA NA NA NA CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 NA NA NA NA NA NA CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG natural NA NA NA NA NA 1709 2219 0.9556242 0.9281198 0.941872 NA NA 0.9556242 0.9281198 NA NA 0 0 NA 0.941872 NA 0 NA FALSE NA NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003641845 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001644701_003 ENSE00001644701 003 12 48377817 48377986 - 53 54 63 G A 48377852 1110 135 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCTTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984068 47984069 47984069 downstr_intron 18 1.346154 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCTTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 28 164 1 0.9956936 0.9978468 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.06757383 NA 0.941872 NA 0.0559748 NA FALSE NA 0.172 -0.198 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA AGG G,A 2.473e-05 12:47984069 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant 0.221768 0.37683 0.0389 0.080785 0.5988825 0.0906862 1 TRUE 1.27062e-05 ENSE00001644701_005 ENSE00001644701 005 12 48377817 48377986 - 53 54 63 G C 48377853 1112 134 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGGCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984069 47984070 47984070 downstr_intron 17 1.326923 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGGCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 540 301 1 0.9974305 0.9987153 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.06931075 NA 0.941872 NA 0.05684326 NA FALSE NA 0.173 0.055 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47984070 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant -0.019471 0.47311 0.07909 0.080785 0.5421766 0.690594 1 TRUE 4.2308e-05 ENSE00001644701_006 ENSE00001644701 006 12 48377817 48377986 - 53 54 63 G A 48377856 1113 131 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCTAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984072 47984073 47984073 downstr_intron 14 1.269231 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCTAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 211 297 0.9962343 0.9797703 0.9880023 NA NA 0.9556242 0.9281198 NA NA 0.04061003 0.0516505 NA 0.941872 NA 0.04613026 NA FALSE NA 0.056 0.723 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs201963693 1 A:0.0024 A:0 A:0 NA A:0.0109 A:0 A:0.001 TGG G,A 0.0003957 12:47984073 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant -0.138836 0.20507 0.01367 0.080785 0.2810074 0.0906862 1 TRUE 0.000399176 ENSE00001644701_007 ENSE00001644701 007 12 48377817 48377986 - 53 54 63 C T 48377872 1114 115 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTACTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984088 47984089 47984089 exon -3 0.962963 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTACTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 115 46 1 1 1 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.07188021 NA 0.941872 NA 0.05812799 NA FALSE NA 0 0.035 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 COSM1512126&COSM1512125 1 NA GCA C,T 1.648e-05 12:47984089 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 missense_variant 3.109197 0.72677 0.32747 0.706298 0.9961606 0 1 TRUE NA ENSE00001644701_008 ENSE00001644701 008 12 48377817 48377986 - 53 54 63 A G 48377873 1115 114 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCCGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984089 47984090 47984090 exon -4 0.9444444 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCCGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 1153 60 0.9988017 0.9024069 0.9506043 NA NA 0.9556242 0.9281198 NA NA 0.04317745 -0.0257129 NA 0.941872 NA 0.008732278 NA FALSE NA 0 -2.396 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs368641858 1 NA G:0 G:0.0001 CAG A,G 8.24e-06 12:47984090 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 synonymous_variant 0.131608 0.24829 0.00452 0.706298 0.5766051 0 1 TRUE NA ENSE00001644701_009 ENSE00001644701 009 12 48377817 48377986 - 53 54 63 G T 48377882 1116 105 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCACCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984098 47984099 47984099 exon -13 0.7777778 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCACCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 36 276 1 0.9842414 0.9921207 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.05612163 NA 0.941872 NA 0.0502487 NA FALSE NA 0.857 -0.145 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs375813386 1 NA T:0.0002 T:0 GGG G,T 2.472e-05 12:47984099 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 synonymous_variant 0.468893 0.97512 0.4609 0.706298 0.6919263 0 1 TRUE 1.23327e-05 ENSE00001644701_010 ENSE00001644701 010 12 48377817 48377986 - 53 54 63 T A 48377885 1117 102 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGTCCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984101 47984102 47984102 exon -16 0.7222222 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGTCCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 563 122 1 1 1 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.07188021 NA 0.941872 NA 0.05812799 NA FALSE NA 0 -4.16 rs147360055 upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs147360055 1 NA A:0.0002 A:0 GTC T,A 8.239e-06 12:47984102 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 synonymous_variant 0.625951 0.91461 0.0491 0.615465 0.7475607 0 1 TRUE NA ENSE00001644701_012 ENSE00001644701 012 12 48377817 48377986 - 53 54 63 C T 48377900 1119 87 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAAACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984116 47984117 47984117 exon 24 0.4444444 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAAACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 100 75 1 1 1 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.07188021 NA 0.941872 NA 0.05812799 NA FALSE NA 0.066 -0.057 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA TCT C,T 7.414e-05 12:47984117 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 synonymous_variant 1.783447 0.96536 0.40414 0.706298 0.6280473 0 1 TRUE 9.4115e-05 ENSE00001644701_013 ENSE00001644701 013 12 48377817 48377986 - 53 54 63 G T 48377912 1120 75 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGAAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984128 47984129 47984129 exon 12 0.2222222 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGAAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 253 214 1 0.9856927 0.9928464 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.05757292 NA 0.941872 NA 0.05097435 NA FALSE NA 0.011 -0.357 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA TGC G,T 8.238e-06 12:47984129 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 synonymous_variant 0.690034 0.94681 0.39228 0.615465 0.6905986 0 1 TRUE NA ENSE00001644701_014 ENSE00001644701 014 12 48377817 48377986 - 53 54 63 G A 48377934 1121 53 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTTTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984150 47984151 47984151 upstr_intron -11 -0.1587302 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTTTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 143 67 1 0.9903819 0.9951909 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.0622621 NA 0.941872 NA 0.05331894 NA FALSE NA 0 -0.241 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs369924617 1 NA A:0.0002 A:0 AGA G,A 8.238e-06 12:47984151 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant 0.127735 0.26123 0.03058 0.053691 0.4985375 0.102154 1 TRUE 4.10934e-06 ENSE00001644701_015 ENSE00001644701 015 12 48377817 48377986 - 53 54 63 A C 48377945 1122 42 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTGTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984161 47984162 47984162 upstr_intron -22 -0.3333333 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTGTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 626 20 0.9896737 0.9920088 0.9908412 NA NA 0.9556242 0.9281198 NA NA 0.03404943 0.06388903 NA 0.941872 NA 0.04896923 NA FALSE NA 0 0.749 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA AAA A,C 8.239e-06 12:47984162 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant -0.32516 0.26812 0.03842 0.053691 0.3447398 0.0610205 1 TRUE 4.13962e-06 ENSE00001644701_017 ENSE00001644701 017 12 48377817 48377986 - 53 54 63 A G 48377956 1124 31 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGCGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984172 47984173 47984173 upstr_intron -33 -0.5079365 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGCGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 166 495 1 0.9914965 0.9957483 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.06337673 NA 0.941872 NA 0.05387625 NA FALSE NA 0 -1.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47984173 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant 0.014698 0.15801 0.04298 0.053691 0.4382038 0.0616821 1 TRUE 0.000208362 ENSE00001644701_018 ENSE00001644701 018 12 48377817 48377986 - 53 54 63 A T 48377956 1125 31 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGAGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984172 47984173 47984173 upstr_intron -33 -0.5079365 CTAGGGGGACTGCAAGTGGGAAGAAAAGCGAGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 179 232 1 0.9993177 0.9996588 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.07119791 NA 0.941872 NA 0.05778684 NA FALSE NA 0 -1.017 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003641845 intron_variant -0.124854 0.15497 0.04071 0.053691 0.5724527 0.0616821 1 TRUE 4.25228e-06 ENSE00001644701_022 ENSE00001644701 022 12 48377817 48377986 - 53 54 63 C A 48377968 1129 19 CTAGGGGGACTGCAAGTGTGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984184 47984185 47984185 upstr_intron -45 -0.6984127 CTAGGGGGACTGCAAGTGTGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 19 102 0.9918344 1 0.9959172 NA NA 0.9556242 0.9281198 NA NA 0.03621015 0.07188021 NA 0.941872 NA 0.05404518 NA FALSE NA 0 -0.422 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CCC C,A 8.261e-06 12:47984185 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant -0.104149 0.14724 0.00395 0.053691 0.4428454 0.0616821 1 TRUE NA ENSE00001644701_023 ENSE00001644701 023 12 48377817 48377986 - 53 54 63 A G 48377970 1130 17 CTAGGGGGACTGCAAGCGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984186 47984187 47984187 upstr_intron -47 -0.7301587 CTAGGGGGACTGCAAGCGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 69 475 0.8972379 1 0.948619 NA NA 0.9556242 0.9281198 NA NA -0.05838629 0.07188021 NA 0.941872 NA 0.006746961 NA FALSE NA 0 -1.206 rs1635550 upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs1635550 1 A:0.3169 G:0.6422 G:0.6225 NA G:0.5883 G:0.835 G:0.7229 G:0.6465 G:0.8271 CAC G,G 0.736 12:47984187 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant 0.022636 0.14122 0.01219 0.053691 0.3036469 0.0616821 1 TRUE 0.740595 ENSE00001644701_024 ENSE00001644701 024 12 48377817 48377986 - 53 54 63 C A 48377975 1131 12 CTAGGGGGACTTCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 47984191 47984192 47984192 upstr_intron -52 -0.8095238 CTAGGGGGACTTCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG mutant NA NA NA NA NA 149 1286 1 0.9930882 0.9965441 NA NA 0.9556242 0.9281198 NA NA 0.04437577 0.06496842 NA 0.941872 NA 0.0546721 NA FALSE NA 0 -0.772 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GCA C,A 8.264e-06 12:47984192 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003641845 intron_variant -0.645966 0.10543 0.02307 0.053691 0.4404733 0.0476879 1 TRUE NA ENSE00001644701_BRK ENSE00001644701 BRK 12 48377817 48377986 - 53 54 63 A,G; T,T NA NA NA CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTTTGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTCCAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG 47984033 47984203 NA NA NA NA NA NA CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTTTGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTCCAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG CTAGGGGGACTGCAAGTGGGAAGAAAAGCGTGTCATTGACTTTTCTTTTTCTCTTCTGTCTAGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGTAAGTACCTGCCCAGCCTCCCCAGGTGGCCCTGGGGGCAGGGGCTGGGAGGG control NA NA NA NA NA 321 331 0 0.007840627 0.003920314 NA NA 0.9556242 0.9281198 NA NA -0.9556242 -0.9202792 NA 0.941872 NA -0.9379517 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003641845 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001645115_000 ENSE00001645115 000 6 30545553 30545722 + 42 96 32 NA NA NA NA NA CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 NA NA NA NA NA NA CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG natural NA NA NA NA NA 407 757 0.9586544 0.987643 0.9731487 NA NA 0.9586544 0.987643 NA NA 0 0 NA 0.9731487 NA 0 NA FALSE NA NA NA NA NA NA ABCF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCF1 NA NA NA ENSG00000204574 ENSE00003549661 NA NA NA NA NA NA NA 2.730242e-06 FALSE NA ENSE00001645115_001 ENSE00001645115 001 6 30545553 30545722 + 42 96 32 G A 30545566 479 14 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAATATGTTTCCAAGAG 30577775 30577945 30577788 30577789 30577789 upstr_intron -29 -0.6666667 CTCTTGGAAACATATTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 410 555 0.9961222 1 0.9980611 NA NA 0.9586544 0.987643 NA NA 0.03746777 0.01235702 NA 0.9731487 NA 0.02491239 NA FALSE NA 0 0.134 . intron_variant MODIFIER ABCF1 HGNC 70 ENST00000441867 2/10 1 NA TGT G,A 8.33e-06 6:30577789 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 intron_variant 0.448059 0.15962 0.01798 0.295142 0.6256443 0.049537 2.730242e-06 FALSE 1.6776e-05 ENSE00001645115_002 ENSE00001645115 002 6 30545553 30545722 + 42 96 32 C G 30545571 480 19 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGCTAAACATGTTTCCAAGAG 30577775 30577945 30577793 30577794 30577794 upstr_intron -24 -0.547619 CTCTTGGAAACATGTTTAGCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 29 259 0.8750981 0.9024364 0.8887673 NA NA 0.9586544 0.987643 NA NA -0.08355636 -0.08520655 NA 0.9731487 NA -0.08438145 NA FALSE NA 0 0.176 . intron_variant MODIFIER ABCF1 HGNC 70 ENST00000441867 2/10 1 NA ACC C,G 8.332e-06 6:30577794 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 intron_variant 0.260249 0.22991 0.18165 0.295142 0.7249623 0.049537 2.730242e-06 FALSE 4.19182e-06 ENSE00001645115_003 ENSE00001645115 003 6 30545553 30545722 + 42 96 32 A G 30545576 481 24 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCCACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577798 30577799 30577799 upstr_intron -19 -0.4285714 CTCTTGGAAACATGTTTACCTGTGGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 73 236 1 1 1 NA NA 0.9586544 0.987643 NA NA 0.04134556 0.01235702 NA 0.9731487 NA 0.02685129 NA FALSE NA 0 -1.874 . intron_variant MODIFIER ABCF1 HGNC 70 ENST00000441867 2/10 1 NA TAG A,G 8.33e-06 6:30577799 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 intron_variant 0.069122 0.14763 0.02889 0.295142 0.5326992 0.0905806 2.730242e-06 FALSE 8.37381e-06 ENSE00001645115_004 ENSE00001645115 004 6 30545553 30545722 + 42 96 32 C T 30545586 482 34 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGAGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577808 30577809 30577809 upstr_intron -9 -0.1904762 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCTCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 591 403 0.9992212 0.9899617 0.9945914 NA NA 0.9586544 0.987643 NA NA 0.04056678 0.002318688 NA 0.9731487 NA 0.02144273 NA FALSE NA 0 -0.235 . intron_variant MODIFIER ABCF1 HGNC 70 ENST00000441867 2/10 1 NA CCC C,T 8.328e-06 6:30577809 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 intron_variant 0.190099 0.17495 0.04464 0.295142 0.354811 0.092579 2.730242e-06 FALSE 4.18232e-06 ENSE00001645115_005 ENSE00001645115 005 6 30545553 30545722 + 42 96 32 A G 30545591 483 39 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTACAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577813 30577814 30577814 upstr_intron -4 -0.07142857 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTGTAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 167 528 0.9928891 0.9875323 0.9902107 NA NA 0.9586544 0.987643 NA NA 0.03423467 -0.0001106834 NA 0.9731487 NA 0.01706199 NA FALSE NA 0 -2.583 . splice_region_variant&intron_variant LOW ABCF1 HGNC 70 ENST00000441867 2/10 1 NA TAT A,G 8.327e-06 6:30577814 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 splice_region_variant -0.047053 0.15 0.04961 0.295142 0.4693751 0.111438 2.730242e-06 FALSE NA ENSE00001645115_006 ENSE00001645115 006 6 30545553 30545722 + 42 96 32 C T 30545597 484 45 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAAAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577819 30577820 30577820 exon 3 0.03125 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTTTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 355 306 1 0.9984935 0.9992467 NA NA 0.9586544 0.987643 NA NA 0.04134556 0.01085049 NA 0.9731487 NA 0.02609803 NA FALSE NA 1 1.7 . splice_region_variant&synonymous_variant LOW ABCF1 HGNC 70 ENST00000441867 3/11 1 NA TCT C,T 8.324e-06 6:30577820 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 splice_region_variant 2.46702 0.91566 0.76353 0.706548 0.9006832 0 2.730242e-06 FALSE 4.17959e-06 ENSE00001645115_009 ENSE00001645115 009 6 30545553 30545722 + 42 96 32 A G 30545626 487 74 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCCGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577848 30577849 30577849 exon 32 0.3333333 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACGGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 235 482 1 0.9097911 0.9548955 NA NA 0.9586544 0.987643 NA NA 0.04134556 -0.07785192 NA 0.9731487 NA -0.01825318 NA FALSE NA 0.996 2.815 . missense_variant MODERATE ABCF1 HGNC 70 ENST00000441867 3/11 1 NA CAG A,G 8.289e-06 6:30577849 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 missense_variant 3.701767 0.93792 0.86245 0.706548 0.9907315 0 2.730242e-06 FALSE NA ENSE00001645115_011 ENSE00001645115 011 6 30545553 30545722 + 42 96 32 G T 30545628 489 76 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGACTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577850 30577851 30577851 exon 34 0.3541667 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGTCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 27 1085 1 1 1 NA NA 0.9586544 0.987643 NA NA 0.04134556 0.01235702 NA 0.9731487 NA 0.02685129 NA FALSE NA 0.798 1.82 . missense_variant MODERATE ABCF1 HGNC 70 ENST00000441867 3/11 1 NA GGC G,T 8.286e-06 6:30577851 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 missense_variant 1.940857 0.88266 0.71111 0.706548 0.9716475 0 2.730242e-06 FALSE 8.33292e-06 ENSE00001645115_014 ENSE00001645115 014 6 30545553 30545722 + 42 96 32 G A 30545648 492 96 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGTACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577870 30577871 30577871 exon -43 0.5625 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTACTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 851 152 0.9934141 1 0.996707 NA NA 0.9586544 0.987643 NA NA 0.03475965 0.01235702 NA 0.9731487 NA 0.02355833 NA FALSE NA 0 -1.449 . synonymous_variant LOW ABCF1 HGNC 70 ENST00000441867 3/11 1 NA TGC G,A 1.652e-05 6:30577871 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 synonymous_variant 0.06166 0.14467 0.048 0.706548 0.5905646 0 2.730242e-06 FALSE 2.49424e-05 ENSE00001645115_016 ENSE00001645115 016 6 30545553 30545722 + 42 96 32 G A 30545666 494 114 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGTTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577888 30577889 30577889 exon -25 0.75 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAACAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 70 608 1 0.9989288 0.9994644 NA NA 0.9586544 0.987643 NA NA 0.04134556 0.01128578 NA 0.9731487 NA 0.02631567 NA FALSE NA 1 1.259 . synonymous_variant LOW ABCF1 HGNC 70 ENST00000441867 3/11 1 NA AGC G,A 2.476e-05 6:30577889 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 synonymous_variant 0.302141 0.89552 0.68333 0.706548 0.5183794 0 2.730242e-06 FALSE 2.07412e-05 ENSE00001645115_017 ENSE00001645115 017 6 30545553 30545722 + 42 96 32 G A 30545669 495 117 CCCAGGATTGGTGGGCCCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGTTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577891 30577892 30577892 exon -22 0.78125 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAACAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 150 835 0.9987005 1 0.9993503 NA NA 0.9586544 0.987643 NA NA 0.04004606 0.01235702 NA 0.9731487 NA 0.02620154 NA FALSE NA 1 1.594 . synonymous_variant LOW ABCF1 HGNC 70 ENST00000441867 3/11 rs533236632 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGC G,A 8.25e-06 6:30577892 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 synonymous_variant 0.355094 0.89773 0.78734 0.706548 0.5356886 0 2.730242e-06 FALSE NA ENSE00001645115_020 ENSE00001645115 020 6 30545553 30545722 + 42 96 32 A C 30545696 498 144 CCCAGGATTGGTGGGCCCTGTGGCACGTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577918 30577919 30577919 downstr_intron 6 1.193548 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACACGTGCCACAGGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 450 181 0.8243693 1 0.9121847 NA NA 0.9586544 0.987643 NA NA -0.1342851 0.01235702 NA 0.9731487 NA -0.06096404 NA FALSE NA 0 -0.698 . splice_region_variant&intron_variant LOW ABCF1 HGNC 70 ENST00000441867 3/10 rs374230455 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AAG A,C 8.24e-06 6:30577919 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 splice_region_variant 0.137037 0.16747 0.09467 0.099367 0.6407005 0.0864562 2.730242e-06 FALSE 4.13942e-06 ENSE00001645115_022 ENSE00001645115 022 6 30545553 30545722 + 42 96 32 G T 30545705 500 153 CCCAGGATTGGTGGGCCATGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577927 30577928 30577928 downstr_intron 15 1.483871 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACATGGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 367 874 1 0.9997754 0.9998877 NA NA 0.9586544 0.987643 NA NA 0.04134556 0.01213241 NA 0.9731487 NA 0.02673899 NA FALSE NA 0 -0.297 . intron_variant MODIFIER ABCF1 HGNC 70 ENST00000441867 3/10 1 NA AGG G,T 8.24e-06 6:30577928 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 intron_variant -0.084404 0.2012 0.12077 0.099367 0.6161857 0.0874635 2.730242e-06 FALSE 4.14185e-06 ENSE00001645115_023 ENSE00001645115 023 6 30545553 30545722 + 42 96 32 G A 30545706 501 154 CCCAGGATTGGTGGGCTCTGTGGCACTTGTACCTGCTGTTGCTGTTGCTGCTGCTGCTGCTCCTTCTCCTTGAGCACTTTCTCTTCTTCCCCAGCCTGTTTATCTTCTACTGCCAGCTCTTCAAAGAACTATAAAGGGAGTTAAGCTACAGGTAAACATGTTTCCAAGAG 30577775 30577945 30577928 30577929 30577929 downstr_intron 16 1.516129 CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGAGCCCACCAATCCTGGG CTCTTGGAAACATGTTTACCTGTAGCTTAACTCCCTTTATAGTTCTTTGAAGAGCTGGCAGTAGAAGATAAACAGGCTGGGGAAGAAGAGAAAGTGCTCAAGGAGAAGGAGCAGCAGCAGCAGCAACAGCAACAGCAGGTACAAGTGCCACAGGGCCCACCAATCCTGGG mutant NA NA NA NA NA 326 31 0.9998737 1 0.9999368 NA NA 0.9586544 0.987643 NA NA 0.04121926 0.01235702 NA 0.9731487 NA 0.02678814 NA FALSE NA 0 0.324 . intron_variant MODIFIER ABCF1 HGNC 70 ENST00000441867 3/10 1 NA GGG G,A 8.24e-06 6:30577929 ABCF1 HGNC Symbol protein_coding 25803 ENSG00000204574 ENSE00003549661 intron_variant 0.245675 0.15713 0.1472 0.099367 0.4824827 0.0493866 2.730242e-06 FALSE 4.14254e-06 ENSE00001645639_000 ENSE00001645639 000 20 3783714 3783883 + 41 99 30 NA NA NA NA NA TCAGGGCCTCTCCCCATTGCCCCATCTTACCTTGATGTGCCCGCCTTCATATTCATAGGGGTATCTGCAGTCTACAATCACAAACTTATCCACGATGTTGCTGAACTTGCCCGTCAATAGGGCCACCATCTGTAGGAGGTCATGGGGGTTGGTTCCGGCAGGTCAGGCTG 3803066 3803236 NA NA NA NA NA NA CAGCCTGACCTGCCGGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA CAGCCTGACCTGCCGGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA natural 372 470 0.7742575 0.8405677 0.8074126 240 370 0.8780801 0.8529198 0.8655 0.7742575 0.8405677 0.8780801 0.8529198 0 0 0 0 0.8074126 0.8655 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25B NA NA NA ENSG00000101224 ENSE00003546037 NA NA NA NA NA NA NA 0.5907332 FALSE NA ENSE00001645639_002 ENSE00001645639 002 20 3783714 3783883 + 41 99 30 G A 3783728 135 15 TCAGGGCCTCTCCCCATTGCCCCATCTTACCTTGATGTGCCCGCCTTCATATTCATAGGGGTATCTGCAGTCTACAATCACAAACTTATCCACGATGTTGCTGAACTTGCCCGTCAATAGGGCCACCATCTGTAGGAGGTCATGGGGGTTGGTTCTGGCAGGTCAGGCTG 3803066 3803236 3803080 3803081 3803081 upstr_intron -27 -0.6341463 CAGCCTGACCTGCCAGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA CAGCCTGACCTGCCGGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA mutant NA NA NA NA NA 80 99 0.8219322 0.8 0.8109661 0.7742575 0.8405677 0.8780801 0.8529198 NA NA -0.05614792 -0.05291982 0.8074126 0.8655 NA -0.05453387 NA FALSE NA 0 -1.722 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:3803081 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003546037 intron_variant 0.039191 0.21858 0.09204 0.298561 0.41406 0.128465 0.5907332 FALSE 1.63034e-05 ENSE00001645639_003 ENSE00001645639 003 20 3783714 3783883 + 41 99 30 G T 3783728 136 15 TCAGGGCCTCTCCCCATTGCCCCATCTTACCTTGATGTGCCCGCCTTCATATTCATAGGGGTATCTGCAGTCTACAATCACAAACTTATCCACGATGTTGCTGAACTTGCCCGTCAATAGGGCCACCATCTGTAGGAGGTCATGGGGGTTGGTTCAGGCAGGTCAGGCTG 3803066 3803236 3803080 3803081 3803081 upstr_intron -27 -0.6341463 CAGCCTGACCTGCCTGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA CAGCCTGACCTGCCGGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA mutant NA NA NA NA NA 18 16 1 1 1 0.7742575 0.8405677 0.8780801 0.8529198 NA NA 0.1219199 0.1470802 0.8074126 0.8655 NA 0.1345 NA FALSE NA 0 -1.722 NA NA NA CDC25B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDC25B NA NA NA ENSG00000101224 ENSE00003546037 intron_variant -0.139686 0.22558 0.10148 0.298561 0.5079081 0.128465 0.5907332 FALSE 1.22275e-05 ENSE00001645639_014 ENSE00001645639 014 20 3783714 3783883 + 41 99 30 C T 3783787 147 74 TCAGGGCCTCTCCCCATTGCCCCATCTTACCTTGATGTGCCCGCCTTCATATTCATAGGGGTATCTGCAGTCTACAATCACAAACTTATCCACGATATTGCTGAACTTGCCCGTCAATAGGGCCACCATCTGTAGGAGGTCATGGGGGTTGGTTCCGGCAGGTCAGGCTG 3803066 3803236 3803139 3803140 3803140 exon 33 0.3333333 CAGCCTGACCTGCCGGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAATATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA CAGCCTGACCTGCCGGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA mutant NA NA NA NA NA 327 33 0 0 0 0.7742575 0.8405677 0.8780801 0.8529198 NA NA -0.8780801 -0.8529198 0.8074126 0.8655 NA -0.8655 NA TRUE NA 0.79 0.291 . synonymous_variant LOW CDC25B HGNC 1726 ENST00000340833 12/15 1 NA ACA C,T 8.236e-06 20:3803140 CDC25B HGNC Symbol protein_coding 19349 ENSG00000101224 ENSE00003546037 synonymous_variant 1.644892 0.90934 0.35884 0.706548 0.7427971 0 0.5907332 FALSE 2.43742e-05 ENSE00001645639_BRK ENSE00001645639 BRK 20 3783714 3783883 + 41 99 30 A,G; T,T NA NA NA TCAGGGCCTCTCCCCATTGCCCCATCTTGGCTTGATGTGCCCGCCTTCATATTCATAGGGGTATCTGCAGTCTACAATCACAAACTTATCCACGATGTTGCTGAACTTGCCCGTCAATAGGGCCACCATAAGTAGGAGGTCATGGGGGTTGGTTCCGGCAGGTCAGGCTG 3803066 3803236 NA NA NA NA NA NA CAGCCTGACCTGCCGGAACCAACCCCCATGACCTCCTACTTATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGCCAAGATGGGGCAATGGGGAGAGGCCCTGA CAGCCTGACCTGCCGGAACCAACCCCCATGACCTCCTACAGATGGTGGCCCTATTGACGGGCAAGTTCAGCAACATCGTGGATAAGTTTGTGATTGTAGACTGCAGATACCCCTATGAATATGAAGGCGGGCACATCAAGGTAAGATGGGGCAATGGGGAGAGGCCCTGA control 75 41 0 0 0 NA NA NA NA NA 0.7742575 0.8405677 0.8780801 0.8529198 -0.7742575 -0.8405677 NA NA 0.8074126 0.8655 -0.8074126 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003546037 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001645667_000 ENSE00001645667 000 3 49019037 49019206 + 56 69 45 NA NA NA NA NA CCTTTGAGGCTAACGGGACAGAGTAGAAAAATTGCTTTGCCTTACCAGCTTCTTCCTGGGTCCGGACTCCATGTAATATGCATATGGGTAGGTGTATTGCAGGGTGTATCGACACTGCAACAGGAGAGAAGAGAAGGAACCTGTGTCTGTGATTCTAAGCTACCTGCATC 48981603 48981773 NA NA NA NA NA NA GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG natural 1043 1337 0.8431378 0.8500042 0.846571 3821 3482 0.8214457 0.6314064 0.7264261 0.8431378 0.8500042 0.8214457 0.6314064 0 0 0 0 0.846571 0.7264261 0 0 0 FALSE FALSE NA NA NA NA NA RP13-131K19.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC137630.2 NA NA NA ENSG00000235236 ENSE00003503384 NA NA NA NA NA NA NA NA NA NA ENSE00001646088_000 ENSE00001646088 000 7 38574492 38574661 - 39 81 50 NA NA NA NA NA AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTTGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 NA NA NA NA NA NA TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT natural 16 28 1 1 1 1494 2965 0.9677292 0.9426346 0.9551819 1 1 0.9677292 0.9426346 0 0 0 0 1 0.9551819 0 0 0 FALSE FALSE NA NA NA NA NA AMPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AMPH NA NA NA ENSG00000078053 ENSE00001646088 NA NA NA NA NA NA NA 0.03226657 FALSE NA ENSE00001646088_001 ENSE00001646088 001 7 38574492 38574661 - 39 81 50 T C 38574514 880 148 AACAATTTCCCACTCCAGAAACCAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTTGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534913 38534914 38534914 downstr_intron 17 1.447368 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTGGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 576 968 1 0.9945953 0.9972977 1 1 0.9677292 0.9426346 NA NA 0.0322708 0.05196074 1 0.9551819 NA 0.04211577 NA FALSE NA 0 -0.875 . intron_variant MODIFIER AMPH HGNC 471 ENST00000356264 2/20 1 NA CTA T,C 8.237e-06 7:38534914 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 intron_variant -0.869023 0.08549 0.02499 0.053691 0.2044017 0.0455939 0.03226657 FALSE 4.08067e-06 ENSE00001646088_002 ENSE00001646088 002 7 38574492 38574661 - 39 81 50 G A 38574539 881 123 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCATTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTTGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534938 38534939 38534939 exon -9 0.9012346 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAATGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 772 113 0.9981192 0.9985978 0.9983585 1 1 0.9677292 0.9426346 NA NA 0.03038996 0.05596325 1 0.9551819 NA 0.0431766 NA FALSE NA 1 1.238 rs147234401 missense_variant MODERATE AMPH HGNC 471 ENST00000356264 2/21 rs147234401&COSM1450618&COSM4006707 1 deleterious(0) probably_damaging(0.982) A:0.0004 A:0.0008 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0028 CGT G,A 0.001153 7:38534939 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 missense_variant 6.897656 0.94504 0.6528 0.706298 0.9988771 0 0.03226657 FALSE 0.00118323 ENSE00001646088_004 ENSE00001646088 004 7 38574492 38574661 - 39 81 50 A G 38574555 883 107 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACGTATTCTTCGAACTGTTCGTCTTTTGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534954 38534955 38534955 exon -25 0.7037037 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATACGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 289 212 0.9974083 1 0.9987041 1 1 0.9677292 0.9426346 NA NA 0.02967906 0.05736542 1 0.9551819 NA 0.04352224 NA FALSE NA 1 3.178 . synonymous_variant LOW AMPH HGNC 471 ENST00000356264 2/21 1 NA CAT A,G 8.237e-06 7:38534955 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 synonymous_variant -0.382437 0.97771 0.8184 0.706298 0.7888862 0 0.03226657 FALSE 4.06312e-06 ENSE00001646088_005 ENSE00001646088 005 7 38574492 38574661 - 39 81 50 T C 38574558 884 104 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATACTCTTCGAACTGTTCGTCTTTTGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534957 38534958 38534958 exon -28 0.6666667 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAGTATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 604 87 0.9994536 1 0.9997268 1 1 0.9677292 0.9426346 NA NA 0.03172445 0.05736542 1 0.9551819 NA 0.04454493 NA FALSE NA 0.998 0.221 . synonymous_variant LOW AMPH HGNC 471 ENST00000356264 2/21 1 NA ATT T,C 8.237e-06 7:38534958 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 synonymous_variant 0.489157 0.96505 0.57579 0.706298 0.7722051 0 0.03226657 FALSE 4.06306e-06 ENSE00001646088_006 ENSE00001646088 006 7 38574492 38574661 - 39 81 50 C T 38574563 885 99 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTTGAACTGTTCGTCTTTTGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534962 38534963 38534963 exon -33 0.6049383 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCAAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 14 17 0.9970229 1 0.9985114 1 1 0.9677292 0.9426346 NA NA 0.02929366 0.05736542 1 0.9551819 NA 0.04332954 NA FALSE NA 1 5.812 . missense_variant MODERATE AMPH HGNC 471 ENST00000356264 2/21 COSM1089484&COSM3638576 1 deleterious(0) probably_damaging(0.999) NA TCG C,T 8.237e-06 7:38534963 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 missense_variant 7.707722 0.98826 0.91538 0.706298 0.9993363 0 0.03226657 FALSE 1.62528e-05 ENSE00001646088_009 ENSE00001646088 009 7 38574492 38574661 - 39 81 50 T C 38574579 888 83 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTCGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534978 38534979 38534979 exon 33 0.4074074 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACGAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 613 531 0.9994617 1 0.9997308 1 1 0.9677292 0.9426346 NA NA 0.03173249 0.05736542 1 0.9551819 NA 0.04454895 NA FALSE NA 0.907 -0.515 . synonymous_variant LOW AMPH HGNC 471 ENST00000356264 2/21 1 NA TTG T,C 4.118e-05 7:38534979 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 synonymous_variant 0.45454 0.94092 0.29072 0.706298 0.715609 0 0.03226657 FALSE 2.03178e-05 ENSE00001646088_010 ENSE00001646088 010 7 38574492 38574661 - 39 81 50 C T 38574582 889 80 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTTGTTTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534981 38534982 38534982 exon 30 0.3703704 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAAACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 238 711 1 1 1 1 1 0.9677292 0.9426346 NA NA 0.0322708 0.05736542 1 0.9551819 NA 0.04481811 NA FALSE NA 0.997 0.351 . synonymous_variant LOW AMPH HGNC 471 ENST00000356264 2/21 1 NA TCT C,T 8.237e-06 7:38534982 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 synonymous_variant 2.060402 0.95145 0.36903 0.706298 0.8397686 0 0.03226657 FALSE 4.06385e-06 ENSE00001646088_011 ENSE00001646088 011 7 38574492 38574661 - 39 81 50 T A 38574586 890 76 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTTGTCTCAACAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534985 38534986 38534986 exon 26 0.3209877 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGTTGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 117 73 0.880811 1 0.9404055 1 1 0.9677292 0.9426346 NA NA -0.08691821 0.05736542 1 0.9551819 NA -0.0147764 NA FALSE NA 1 5.974 rs141452785 missense_variant MODERATE AMPH HGNC 471 ENST00000356264 2/21 rs141452785 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0001 ATC T,A 8.237e-06 7:38534986 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 missense_variant 6.675674 0.98571 0.92008 0.706298 0.9921252 0 0.03226657 FALSE 4.06431e-06 ENSE00001646088_012 ENSE00001646088 012 7 38574492 38574661 - 39 81 50 A C 38574588 891 74 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTTGTCTCATCCGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38534987 38534988 38534988 exon 24 0.2962963 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCGGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 309 370 1 1 1 1 1 0.9677292 0.9426346 NA NA 0.0322708 0.05736542 1 0.9551819 NA 0.04481811 NA FALSE NA 0.779 -0.322 . synonymous_variant LOW AMPH HGNC 471 ENST00000356264 2/21 1 NA CAG A,C 8.237e-06 7:38534988 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 synonymous_variant 0.371863 0.95573 0.21264 0.706298 0.7515618 0 0.03226657 FALSE 4.06494e-06 ENSE00001646088_015 ENSE00001646088 015 7 38574492 38574661 - 39 81 50 T G 38574616 894 46 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTTGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAAGTTGCAAATAAAACAAAATGGTTTAATTTAATAATGTTTTCAAAGA 38534891 38535061 38535015 38535016 38535016 upstr_intron -5 -0.08 TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAACTTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 309 171 0.9758325 0.9269763 0.9514044 1 1 0.9677292 0.9426346 NA NA 0.00810335 -0.01565825 1 0.9551819 NA -0.003777449 NA FALSE NA 0.007 1.021 . splice_region_variant&intron_variant LOW AMPH HGNC 471 ENST00000356264 1/20 rs554794959 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 ATT T,G 2.471e-05 7:38535016 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 splice_region_variant 1.684074 0.77717 0.2059 0.078448 0.8714855 0.577763 0.03226657 FALSE 1.22105e-05 ENSE00001646088_016 ENSE00001646088 016 7 38574492 38574661 - 39 81 50 A T 38574640 895 22 AACAATTTCCCACTCCAGAAACTAAACAAATGGACTCACTTCTTGCCGTTTGAAGTTCTGGACATATTCTTCGAACTGTTCGTCTTTTGTCTCATCAGCTTTCCCCAGCTTTTGGAGGACCTAATTTGCAAATAAAACAAAATGGTTTTATTTAATAATGTTTTCAAAGA 38534891 38535061 38535039 38535040 38535040 upstr_intron -29 -0.56 TCTTTGAAAACATTATTAAATAAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT TCTTTGAAAACATTATTAAATTAAACCATTTTGTTTTATTTGCAAATTAGGTCCTCCAAAAGCTGGGGAAAGCTGATGAGACAAAAGACGAACAGTTCGAAGAATATGTCCAGAACTTCAAACGGCAAGAAGTGAGTCCATTTGTTTAGTTTCTGGAGTGGGAAATTGTT mutant NA NA NA NA NA 91 429 1 1 1 1 1 0.9677292 0.9426346 NA NA 0.0322708 0.05736542 1 0.9551819 NA 0.04481811 NA FALSE NA 0 -0.003 . intron_variant MODIFIER AMPH HGNC 471 ENST00000356264 1/20 1 NA TAA A,T 8.238e-06 7:38535040 AMPH HGNC Symbol protein_coding 247863 ENSG00000078053 ENSE00001646088 intron_variant 0.092724 0.18859 0.02759 0.053691 0.8095839 0.165146 0.03226657 FALSE 8.17307e-06 ENSE00001647173_000 ENSE00001647173 000 11 5718436 5718605 + 42 96 32 NA NA NA NA NA CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 NA NA NA NA NA NA GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG natural 38 22 0.9900927 0.9779144 0.9840036 6079 792 0.9114513 0.9543364 0.9328938 0.9900927 0.9779144 0.9114513 0.9543364 0 0 0 0 0.9840036 0.9328938 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001647173 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001647173_008 ENSE00001647173 008 11 5718436 5718605 + 42 96 32 A C 5718476 251 41 CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCGGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697245 5697246 5697246 upstr_intron -2 -0.02380952 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACCGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant 403 847 0 0.07978502 0.03989251 274 138 0 0 0 0.9900927 0.9779144 0.9114513 0.9543364 -0.9900927 -0.8981294 -0.9114513 -0.9543364 0.9840036 0.9328938 -0.944111 -0.9328938 0.0112172 TRUE TRUE 0.998 4.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001647173 splice_acceptor_variant 2.651057 0.91552 0.9212 0.283894 0.9717435 0.673191 0.454891 FALSE 1.28298e-05 ENSE00001647173_020 ENSE00001647173 020 11 5718436 5718605 + 42 96 32 G A 5718565 263 130 CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGTGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697334 5697335 5697335 exon -9 0.9166667 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCACCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant NA NA NA NA NA 21 52 1 0.8096298 0.9048149 0.9900927 0.9779144 0.9114513 0.9543364 NA NA 0.08854874 -0.1447067 0.9840036 0.9328938 NA -0.02807897 NA FALSE NA 0 -2.544 NA NA NA TRIM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM22 NA NA NA ENSG00000132274 ENSE00001647173 missense_variant -0.596764 0.12401 0.0183 0.706548 0.6741014 0 3.156222e-12 FALSE 1.64175e-05 ENSE00001647173_BRK ENSE00001647173 BRK 11 5718436 5718605 + 42 96 32 A,G; T,T NA NA NA CTAATTATCCCTTAGGAGGTGTCTCCTCCTGGCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCAAGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 NA NA NA NA NA NA GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACTTGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGCCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG control 146 116 0 0 0 NA NA NA NA NA 0.9900927 0.9779144 0.9114513 0.9543364 -0.9900927 -0.9779144 NA NA 0.9840036 0.9328938 -0.9840036 NA NA NA TRUE NA NA NA NA NA TRIM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM22 NA NA NA ENSG00000132274 ENSE00001647173 NA NA NA NA NA NA NA 3.156222e-12 FALSE NA ENSE00001647198_000 ENSE00001647198 000 20 43552760 43552929 + 42 96 32 NA NA NA NA NA CGCTGTCCCCCGGAGGTGCCCCCAGTCCTCACCTTCGCACTGGTAATTACTCCATAGGGAGAGAACTCTTTCCTCAGTTTGTCGTCATCAATGGAGTCGTCCAGATTCTTCACATACAAGTTCACACCCTGGGATGGAAGGGAAACTGCTGGATGTCCCCTTCTCCTCCA 44924118 44924288 NA NA NA NA NA NA TGGAGGAGAAGGGGACATCCAGCAGTTTCCCTTCCATCCCAGGGTGTGAACTTGTATGTGAAGAATCTGGACGACTCCATTGATGACGACAAACTGAGGAAAGAGTTCTCTCCCTATGGAGTAATTACCAGTGCGAAGGTGAGGACTGGGGGCACCTCCGGGGGACAGCG TGGAGGAGAAGGGGACATCCAGCAGTTTCCCTTCCATCCCAGGGTGTGAACTTGTATGTGAAGAATCTGGACGACTCCATTGATGACGACAAACTGAGGAAAGAGTTCTCTCCCTATGGAGTAATTACCAGTGCGAAGGTGAGGACTGGGGGCACCTCCGGGGGACAGCG natural 50 48 0.9800058 0.9847816 0.9823937 170 1127 0.9960612 0.8415233 0.9187922 0.9800058 0.9847816 0.9960612 0.8415233 0 0 0 0 0.9823937 0.9187922 0 0 0 FALSE FALSE NA NA NA NA NA PABPC1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PABPC1L NA NA NA ENSG00000101104 ENSE00003515430 NA NA NA NA NA NA NA 0.9933498 TRUE NA ENSE00001647198_001 ENSE00001647198 001 20 43552760 43552929 + 42 96 32 A G 43552774 1387 15 CGCTGTCCCCCGGAGGTGCCCCCAGTCCTCACCTTCGCACTGGTAATTACTCCATAGGGAGAGAACTCTTTCCTCAGTTTGTCGTCATCAATGGAGTCGTCCAGATTCTTCACATACAAGTTCACACCCTGGGATGGAAGGGAAACTGCTGGATGCCCCCTTCTCCTCCA 44924118 44924288 44924132 44924133 44924133 upstr_intron -28 -0.6428571 TGGAGGAGAAGGGGGCATCCAGCAGTTTCCCTTCCATCCCAGGGTGTGAACTTGTATGTGAAGAATCTGGACGACTCCATTGATGACGACAAACTGAGGAAAGAGTTCTCTCCCTATGGAGTAATTACCAGTGCGAAGGTGAGGACTGGGGGCACCTCCGGGGGACAGCG TGGAGGAGAAGGGGACATCCAGCAGTTTCCCTTCCATCCCAGGGTGTGAACTTGTATGTGAAGAATCTGGACGACTCCATTGATGACGACAAACTGAGGAAAGAGTTCTCTCCCTATGGAGTAATTACCAGTGCGAAGGTGAGGACTGGGGGCACCTCCGGGGGACAGCG mutant NA NA NA NA NA 268 863 0.9924006 0.9936471 0.9930238 0.9800058 0.9847816 0.9960612 0.8415233 NA NA -0.003660573 0.1521238 0.9823937 0.9187922 NA 0.07423163 NA FALSE NA 0 -2.154 . intron_variant MODIFIER PABPC1L HGNC 15797 ENST00000217073 6/13 1 NA GAC A,G 8.297e-06 20:44924133 PABPC1L HGNC Symbol protein_coding 48973 ENSG00000101104 ENSE00003515430 intron_variant -0.031622 0.08461 0.012 0.295142 0.3418122 0.0539696 0.9933498 TRUE 8.14856e-06 ENSE00001647198_BRK ENSE00001647198 BRK 20 43552760 43552929 + 42 96 32 A,G; T,T NA NA NA CGCTGTCCCCCGGAGGTGCCCCCAGTCCTCGGCTTCGCACTGGTAATTACTCCATAGGGAGAGAACTCTTTCCTCAGTTTGTCGTCATCAATGGAGTCGTCCAGATTCTTCACATACAAGTTCACACCAAGGGATGGAAGGGAAACTGCTGGATGTCCCCTTCTCCTCCA 44924118 44924288 NA NA NA NA NA NA TGGAGGAGAAGGGGACATCCAGCAGTTTCCCTTCCATCCCTTGGTGTGAACTTGTATGTGAAGAATCTGGACGACTCCATTGATGACGACAAACTGAGGAAAGAGTTCTCTCCCTATGGAGTAATTACCAGTGCGAAGCCGAGGACTGGGGGCACCTCCGGGGGACAGCG TGGAGGAGAAGGGGACATCCAGCAGTTTCCCTTCCATCCCAGGGTGTGAACTTGTATGTGAAGAATCTGGACGACTCCATTGATGACGACAAACTGAGGAAAGAGTTCTCTCCCTATGGAGTAATTACCAGTGCGAAGGTGAGGACTGGGGGCACCTCCGGGGGACAGCG control 218 264 0.02985521 0 0.0149276 NA NA NA NA NA 0.9800058 0.9847816 0.9960612 0.8415233 -0.9501506 -0.9847816 NA NA 0.9823937 0.9187922 -0.9674661 NA NA NA TRUE NA NA NA NA NA PABPC1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PABPC1L NA NA NA ENSG00000101104 ENSE00003515430 NA NA NA NA NA NA NA 0.9933498 TRUE NA ENSE00001647405_000 ENSE00001647405 000 7 17841167 17841336 - 44 72 54 NA NA NA NA NA TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 NA NA NA NA NA NA TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT natural NA NA NA NA NA 1833 2132 0.919451 0.9924542 0.9559526 NA NA 0.919451 0.9924542 NA NA 0 0 NA 0.9559526 NA 0 NA FALSE NA NA NA NA NA NA SNX13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX13 NA NA NA ENSG00000071189 ENSE00003478331 NA NA NA NA NA NA NA 0.9853216 TRUE NA ENSE00001647405_002 ENSE00001647405 002 7 17841167 17841336 - 44 72 54 G A 17841194 663 143 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTTTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801570 17801571 17801571 downstr_intron 17 1.395349 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTTTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 256 71 0.9965744 1 0.9982872 NA NA 0.919451 0.9924542 NA NA 0.07712345 0.00754579 NA 0.9559526 NA 0.04233462 NA FALSE NA 0 0.132 . intron_variant MODIFIER SNX13 HGNC 21335 ENST00000428135 22/25 1 NA AGA G,A 1.657e-05 7:17801571 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 intron_variant 0.277313 0.17396 0.00593 0.106106 0.7283399 0.046323 0.9853216 TRUE 9.00074e-06 ENSE00001647405_009 ENSE00001647405 009 7 17841167 17841336 - 44 72 54 T C 17841242 670 95 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACGTCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801618 17801619 17801619 exon -32 0.5694444 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACGTCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 1334 195 1 1 1 NA NA 0.919451 0.9924542 NA NA 0.08054903 0.00754579 NA 0.9559526 NA 0.04404741 NA FALSE NA 1 7.139 . missense_variant MODERATE SNX13 HGNC 21335 ENST00000428135 22/26 rs375657290 1 tolerated(0.45) benign(0.098) NA C:0 C:0.0001 ATG T,C 8.281e-06 7:17801619 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 missense_variant 1.55914 0.99348 0.9875 0.732398 0.991406 0 0.9853216 TRUE NA ENSE00001647405_011 ENSE00001647405 011 7 17841167 17841336 - 44 72 54 G A 17841250 672 87 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGATCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801626 17801627 17801627 exon 33 0.4583333 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGATCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 137 102 1 1 1 NA NA 0.919451 0.9924542 NA NA 0.08054903 0.00754579 NA 0.9559526 NA 0.04404741 NA FALSE NA 1 4.021 . synonymous_variant LOW SNX13 HGNC 21335 ENST00000428135 22/26 COSM255555 1 NA GGT G,A 6.626e-05 7:17801627 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 synonymous_variant 0.747098 0.96865 0.39258 0.732398 0.5931687 0 0.9853216 TRUE 4.18197e-05 ENSE00001647405_013 ENSE00001647405 013 7 17841167 17841336 - 44 72 54 T C 17841261 674 76 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGGCTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801637 17801638 17801638 exon 22 0.3055556 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGGCTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 614 297 0.9933486 1 0.9966743 NA NA 0.919451 0.9924542 NA NA 0.0738976 0.00754579 NA 0.9559526 NA 0.0407217 NA FALSE NA 1 2.829 . missense_variant MODERATE SNX13 HGNC 21335 ENST00000428135 22/26 1 tolerated(0.65) benign(0.001) NA GTC T,C 8.283e-06 7:17801638 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 missense_variant 1.372653 0.98103 0.90314 0.732398 0.9693946 0 0.9853216 TRUE NA ENSE00001647405_014 ENSE00001647405 014 7 17841167 17841336 - 44 72 54 A G 17841269 675 68 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAACTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801645 17801646 17801646 exon 14 0.1944444 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAACTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 3101 1174 0.9910755 0.992 0.9915377 NA NA 0.919451 0.9924542 NA NA 0.07162451 -0.000454231 NA 0.9559526 NA 0.03558514 NA FALSE NA 1 8.301 rs61755315 missense_variant MODERATE SNX13 HGNC 21335 ENST00000428135 22/26 rs61755315 1 deleterious(0.04) benign(0.009) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0009 AAT A,G 0.0002485 7:17801646 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 missense_variant 4.590948 0.99383 0.99271 0.732398 0.9951193 0 0.9853216 TRUE 0.000233075 ENSE00001647405_015 ENSE00001647405 015 7 17841167 17841336 - 44 72 54 C T 17841295 676 42 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGATTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801671 17801672 17801672 upstr_intron -13 -0.2222222 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGATTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 39 136 1 1 1 NA NA 0.919451 0.9924542 NA NA 0.08054903 0.00754579 NA 0.9559526 NA 0.04404741 NA FALSE NA 0 -0.976 . intron_variant MODIFIER SNX13 HGNC 21335 ENST00000428135 21/25 1 NA ACC C,T 3.318e-05 7:17801672 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 intron_variant -0.193554 0.27298 0.01883 0.106106 0.5948758 0.0518458 0.9853216 TRUE 1.80994e-05 ENSE00001647405_016 ENSE00001647405 016 7 17841167 17841336 - 44 72 54 T C 17841300 677 37 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGGTTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801676 17801677 17801677 upstr_intron -18 -0.3148148 TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGGTTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 969 699 0.9996171 1 0.9998086 NA NA 0.919451 0.9924542 NA NA 0.08016617 0.00754579 NA 0.9559526 NA 0.04385598 NA FALSE NA 0.017 0.088 . intron_variant MODIFIER SNX13 HGNC 21335 ENST00000428135 21/25 1 NA ATC C,C 1.66e-05 7:17801677 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 intron_variant 0.009084 0.22183 0.00572 0.106106 0.6103964 0.0518458 0.9853216 TRUE 4.65112e-06 ENSE00001647405_017 ENSE00001647405 017 7 17841167 17841336 - 44 72 54 A G 17841312 678 25 TCTTTCACTGTCTGCTTTAGTGTGCTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801688 17801689 17801689 upstr_intron -30 -0.537037 TCTTTCACTGTCTGCTTTAGTGTGCTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 331 91 1 0.9504492 0.9752246 NA NA 0.919451 0.9924542 NA NA 0.08054903 -0.04200504 NA 0.9559526 NA 0.01927199 NA FALSE NA 0.295 1.036 . intron_variant MODIFIER SNX13 HGNC 21335 ENST00000428135 21/25 1 NA AAC A,G 8.314e-06 7:17801689 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 intron_variant 0.269809 0.3722 0.11944 0.106106 0.7887405 0.105544 0.9853216 TRUE NA ENSE00001647405_019 ENSE00001647405 019 7 17841167 17841336 - 44 72 54 A C 17841324 680 13 TCTTTCACTGTCGGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT 17801543 17801713 17801700 17801701 17801701 upstr_intron -42 -0.7592593 TCTTTCACTGTCGGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT TCTTTCACTGTCTGCTTTAGTGTGTTTACTTTGTGGATTTGGTTTTATTTTTAGGTGCCTCCTTTAATTCCTAAGACTGATTCAGACCCTGAACATCGCCGAGTTTCGGCTCAACTTGACGATAATGTGAGTTAATTTTATTCTTGGTAGTATTTAGTTTAAGTCATACT mutant NA NA NA NA NA 1370 1107 0.9994882 0.9942415 0.9968649 NA NA 0.919451 0.9924542 NA NA 0.08003724 0.001787323 NA 0.9559526 NA 0.04091228 NA FALSE NA 0 0.455 . intron_variant MODIFIER SNX13 HGNC 21335 ENST00000428135 21/25 rs371724081 1 NA C:0 C:0.0001 CAG A,C 0.0001084 7:17801701 SNX13 HGNC Symbol protein_coding 149740 ENSG00000071189 ENSE00003478331 intron_variant 0.060519 0.24798 0.192 0.106106 0.318229 0.603139 0.9853216 TRUE 0.000134924 ENSE00001647737_000 ENSE00001647737 000 1 146633246 146633415 - 45 69 56 NA NA NA NA NA CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG 147161666 147161836 NA NA NA NA NA NA CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG natural 12 12 0.9983962 0.9855258 0.991961 2092 1529 0.9077358 0.8419651 0.8748505 0.9983962 0.9855258 0.9077358 0.8419651 0 0 0 0 0.991961 0.8748505 0 0 0 FALSE FALSE NA NA NA NA NA PRKAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKAB2 NA NA NA ENSG00000131791 ENSE00003664558 NA NA NA NA NA NA NA 0.7671085 FALSE NA ENSE00001647737_001 ENSE00001647737 001 1 146633246 146633415 - 45 69 56 A G 146633260 3360 156 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCCCCCTGGAATGAGAG 147161666 147161836 147161680 147161681 147161681 downstr_intron 31 1.704545 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCCCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG mutant NA NA NA NA NA 88 337 0.998254 0.9997738 0.9990139 0.9983962 0.9855258 0.9077358 0.8419651 NA NA 0.09051825 0.1578087 0.991961 0.8748505 NA 0.1241635 NA FALSE NA 0 -0.751 . downstream_gene_variant MODIFIER PRKAB2 HGNC 9379 ENST00000474939 1 NA GAG A,G 1.647e-05 1:147161681 PRKAB2 HGNC Symbol protein_coding 17444 ENSG00000131791 ENSE00003664558 intron_variant 0.292334 0.20083 0.02734 0.156188 0.6873246 0.0673029 0.7671085 FALSE 1.63744e-05 ENSE00001647737_004 ENSE00001647737 004 1 146633246 146633415 - 45 69 56 G A 146633266 3363 150 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCATAGAGCTCCCTGGAATGAGAG 147161666 147161836 147161686 147161687 147161687 downstr_intron 25 1.568182 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCATAGAGCTCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG mutant NA NA NA NA NA 92 335 1 0.9947184 0.9973592 0.9983962 0.9855258 0.9077358 0.8419651 NA NA 0.09226423 0.1527533 0.991961 0.8748505 NA 0.1225088 NA FALSE NA 0 -0.262 . downstream_gene_variant MODIFIER PRKAB2 HGNC 9379 ENST00000474939 1 NA TGT G,A 8.237e-06 1:147161687 PRKAB2 HGNC Symbol protein_coding 17444 ENSG00000131791 ENSE00003664558 intron_variant 0.019093 0.18017 0.01486 0.156188 0.5538786 0.0673029 0.7671085 FALSE 4.0808e-06 ENSE00001647737_008 ENSE00001647737 008 1 146633246 146633415 - 45 69 56 G A 146633315 3367 101 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAATCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG 147161666 147161836 147161735 147161736 147161736 exon -25 0.6521739 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAATCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG mutant NA NA NA NA NA 107 52 0.9605218 0.9992648 0.9798933 0.9983962 0.9855258 0.9077358 0.8419651 NA NA 0.05278602 0.1572996 0.991961 0.8748505 NA 0.1050428 NA FALSE NA 1 1.475 . downstream_gene_variant MODIFIER PRKAB2 HGNC 9379 ENST00000474939 1 NA GGT G,A 8.236e-06 1:147161736 PRKAB2 HGNC Symbol protein_coding 17444 ENSG00000131791 ENSE00003664558 synonymous_variant 1.078585 0.96814 0.88894 0.706548 0.616292 0 0.7671085 FALSE 4.06663e-06 ENSE00001647737_009 ENSE00001647737 009 1 146633246 146633415 - 45 69 56 A C 146633327 3368 89 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCAGGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG 147161666 147161836 147161747 147161748 147161748 exon 33 0.4782609 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCAGGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG mutant NA NA NA NA NA 31 625 1 0.9997469 0.9998734 0.9983962 0.9855258 0.9077358 0.8419651 NA NA 0.09226423 0.1577817 0.991961 0.8748505 NA 0.125023 NA FALSE NA 0 -1.343 . downstream_gene_variant MODIFIER PRKAB2 HGNC 9379 ENST00000474939 1 NA CAT A,C 1.647e-05 1:147161748 PRKAB2 HGNC Symbol protein_coding 17444 ENSG00000131791 ENSE00003664558 missense_variant 4.617952 0.96099 0.64381 0.706548 0.9922799 0 0.7671085 FALSE 8.13709e-06 ENSE00001647737_010 ENSE00001647737 010 1 146633246 146633415 - 45 69 56 T C 146633328 3369 88 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCGTGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG 147161666 147161836 147161748 147161749 147161749 exon 32 0.4637681 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCGTGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG mutant NA NA NA NA NA 85 37 1 1 1 0.9983962 0.9855258 0.9077358 0.8419651 NA NA 0.09226423 0.1580349 0.991961 0.8748505 NA 0.1251495 NA FALSE NA 1 7.525 . downstream_gene_variant MODIFIER PRKAB2 HGNC 9379 ENST00000474939 1 NA ATG T,C 2.471e-05 1:147161749 PRKAB2 HGNC Symbol protein_coding 17444 ENSG00000131791 ENSE00003664558 missense_variant 5.607998 0.98963 0.99688 0.706548 0.9975267 0 0.7671085 FALSE 2.84831e-05 ENSE00001647737_011 ENSE00001647737 011 1 146633246 146633415 - 45 69 56 G A 146633330 3370 86 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAATCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG 147161666 147161836 147161750 147161751 147161751 exon 30 0.4347826 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAATCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG mutant NA NA NA NA NA 184 26 0.9956714 1 0.9978357 0.9983962 0.9855258 0.9077358 0.8419651 NA NA 0.08793562 0.1580349 0.991961 0.8748505 NA 0.1229852 NA FALSE NA 1 0.753 . downstream_gene_variant MODIFIER PRKAB2 HGNC 9379 ENST00000474939 1 NA GGT G,A 8.236e-06 1:147161751 PRKAB2 HGNC Symbol protein_coding 17444 ENSG00000131791 ENSE00003664558 synonymous_variant 1.248057 0.96136 0.78533 0.706548 0.5998734 0 0.7671085 FALSE 4.06984e-06 ENSE00001647737_012 ENSE00001647737 012 1 146633246 146633415 - 45 69 56 G C 146633348 3371 68 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCGTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG 147161666 147161836 147161768 147161769 147161769 exon 12 0.173913 CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCGTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG mutant NA NA NA NA NA 515 66 0.9930842 1 0.9965421 0.9983962 0.9855258 0.9077358 0.8419651 NA NA 0.0853484 0.1580349 0.991961 0.8748505 NA 0.1216916 NA FALSE NA 0.997 0.072 . downstream_gene_variant MODIFIER PRKAB2 HGNC 9379 ENST00000474939 1 NA AGG G,C 9.884e-05 1:147161769 PRKAB2 HGNC Symbol protein_coding 17444 ENSG00000131791 ENSE00003664558 synonymous_variant 1.05365 0.97572 0.95717 0.706548 0.7198473 0 0.7671085 FALSE 0.00013097 ENSE00001647737_015 ENSE00001647737 015 1 146633246 146633415 - 45 69 56 T C 146633392 3374 24 CTGTGCATTAATTTCATTTAGTAGTTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG 147161666 147161836 147161812 147161813 147161813 upstr_intron -33 -0.5714286 CTGTGCATTAATTTCATTTAGTAGTTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG CTGTGCATTAATTTCATTTAGTAATTTTTTTAGTAATTTTTTTCTCTTTCTCTTAGTGTGACCCAGCCTTACTCCCTGAGCCCAACCATGTTATGCTGAACCATCTCTATGCATTGTCCATTAAGGTAAGTGGTGGCCCTGGCTCTTCACAGAGCTCCCTGGAATGAGAG mutant NA NA NA NA NA 302 1138 1 0.9970017 0.9985009 0.9983962 0.9855258 0.9077358 0.8419651 NA NA 0.09226423 0.1550366 0.991961 0.8748505 NA 0.1236504 NA FALSE NA 0 -0.22 . downstream_gene_variant MODIFIER PRKAB2 HGNC 9379 ENST00000474939 1 NA ATT T,C 1.655e-05 1:147161813 PRKAB2 HGNC Symbol protein_coding 17444 ENSG00000131791 ENSE00003664558 intron_variant 0.926163 0.17291 0.00963 0.062308 0.7832405 0.118391 0.7671085 FALSE 4.04302e-05 ENSE00001648073_000 ENSE00001648073 000 1 86306854 86307023 - 51 57 62 NA NA NA NA NA GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 NA NA NA NA NA NA GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT natural 117 261 0.7990755 0.8234769 0.8112762 6732 4799 0.9167906 0.9151711 0.9159809 0.7990755 0.8234769 0.9167906 0.9151711 0 0 0 0 0.8112762 0.9159809 0 0 0 FALSE FALSE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003543677 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001648073_001 ENSE00001648073 001 1 86306854 86307023 - 51 57 62 C G 86306869 2267 155 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAACATAAAACACAATTAT 85841170 85841340 85841185 85841186 85841186 downstr_intron 36 1.72 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAACATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant NA NA NA NA NA 520 702 0.9452637 0.9163181 0.9307909 0.7990755 0.8234769 0.9167906 0.9151711 NA NA 0.02847311 0.001146995 0.8112762 0.9159809 NA 0.01481005 NA FALSE NA 0.751 0.025 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA TCT C,G 8.283e-06 1:85841186 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 intron_variant 0.623901 0.69621 0.56416 0.162113 0.7219554 0.0414318 1.063411e-25 FALSE NA ENSE00001648073_002 ENSE00001648073 002 1 86306854 86307023 - 51 57 62 A G 86306891 2268 133 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCCGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841207 85841208 85841208 downstr_intron 14 1.28 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCCGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant 66 218 0.8160495 0.85 0.8330248 619 450 0.8948094 0.7958856 0.8453475 0.7990755 0.8234769 0.9167906 0.9151711 0.01697406 0.02652313 -0.02198122 -0.1192855 0.8112762 0.9159809 0.02174859 -0.07063337 0.09238196 FALSE FALSE 1 2.409 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 42/57 1 NA CAG A,G 8.281e-06 1:85841208 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 intron_variant 1.876206 0.9756 0.82421 0.162113 0.8430771 0.188404 1.063411e-25 FALSE NA ENSE00001648073_005 ENSE00001648073 005 1 86306854 86307023 - 51 57 62 C T 86306912 2271 112 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGATGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841228 85841229 85841229 exon -8 0.877193 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGATGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant NA NA NA NA NA 70 586 0.9982228 0.99973 0.9989764 0.7990755 0.8234769 0.9167906 0.9151711 NA NA 0.0814322 0.08455891 0.8112762 0.9159809 NA 0.08299555 NA FALSE NA 1 6.288 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 42/58 1 probably_damaging(0.99) NA ACC C,T 8.28e-06 1:85841229 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 missense_variant 5.377911 0.98566 0.95685 0.615465 0.9954878 0 1.063411e-25 FALSE 4.23388e-06 ENSE00001648073_006 ENSE00001648073 006 1 86306854 86307023 - 51 57 62 C T 86306915 2272 109 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCAAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841231 85841232 85841232 exon -11 0.8245614 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCAAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant NA NA NA NA NA 74 196 0.8021753 0.8 0.8010877 0.7990755 0.8234769 0.9167906 0.9151711 NA NA -0.1146153 -0.1151711 0.8112762 0.9159809 NA -0.1148932 NA FALSE NA 1 2.629 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 42/58 1 possibly_damaging(0.747) NA TCG C,T 1.656e-05 1:85841232 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 missense_variant 5.542205 0.95958 0.70956 0.615465 0.9424214 0 1.063411e-25 FALSE 3.38883e-05 ENSE00001648073_010 ENSE00001648073 010 1 86306854 86307023 - 51 57 62 C T 86306930 2276 94 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGAACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841246 85841247 85841247 exon -26 0.5614035 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGAACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant NA NA NA NA NA 21 174 0.8197465 0.8022804 0.8110134 0.7990755 0.8234769 0.9167906 0.9151711 NA NA -0.09704414 -0.1128907 0.8112762 0.9159809 NA -0.1049674 NA FALSE NA 1 6.288 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 42/58 rs375340928 1 probably_damaging(0.996) NA T:0 T:0.0002 TCC C,T 2.484e-05 1:85841247 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 missense_variant 5.267547 0.98566 0.95685 0.615465 0.9944118 0 1.063411e-25 FALSE 1.68127e-05 ENSE00001648073_011 ENSE00001648073 011 1 86306854 86307023 - 51 57 62 T C 86306932 2277 92 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTGGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841248 85841249 85841249 exon -28 0.5263158 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTGGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant 31 80 0.85 0.85 0.85 NA NA NA NA NA 0.7990755 0.8234769 0.9167906 0.9151711 0.05092452 0.02652313 NA NA 0.8112762 0.9159809 0.03872382 NA NA NA FALSE 0.465 -0.208 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 42/58 rs368315060 1 NA C:0 C:0.0001 CTA T,C 0.0001904 1:85841249 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 synonymous_variant 0.637652 0.84605 0.4121 0.615465 0.8057623 0 1.063411e-25 FALSE 0.000163831 ENSE00001648073_012 ENSE00001648073 012 1 86306854 86307023 - 51 57 62 T C 86306945 2278 79 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGGTAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841261 85841262 85841262 exon 17 0.2982456 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGGTAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant 58 24 0.0225126 0 0.0112563 1312 695 0.004847017 0.03121072 0.01802887 0.7990755 0.8234769 0.9167906 0.9151711 -0.7765629 -0.8234769 -0.9119436 -0.8839604 0.8112762 0.9159809 -0.8000199 -0.897952 0.09793212 TRUE TRUE 1 3.79 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 42/58 1 benign(0.107) NA ATC T,C 8.28e-06 1:85841262 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 missense_variant 2.723795 0.97234 0.88317 0.615465 0.9930713 0 1.063411e-25 FALSE 8.57038e-06 ENSE00001648073_014 ENSE00001648073 014 1 86306854 86307023 - 51 57 62 A G 86306958 2280 66 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCCACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841274 85841275 85841275 exon 4 0.07017544 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCCACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant 13 26 0.85 0.85 0.85 193 1249 0.7834208 0.9520464 0.8677336 0.7990755 0.8234769 0.9167906 0.9151711 0.05092452 0.02652313 -0.1333698 0.03687529 0.8112762 0.9159809 0.03872382 -0.04824726 0.08697108 FALSE FALSE 1 5.775 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 42/58 COSM682871 1 probably_damaging(0.997) NA TAG A,G 4.14e-05 1:85841275 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 missense_variant 2.472738 0.9735 0.94233 0.615465 0.9604911 0 1.063411e-25 FALSE 3.52091e-05 ENSE00001648073_015 ENSE00001648073 015 1 86306854 86307023 - 51 57 62 G A 86306977 2281 47 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATTATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841293 85841294 85841294 upstr_intron -16 -0.2419355 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATTATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant NA NA NA NA NA 686 254 0.9911283 0.975407 0.9832677 0.7990755 0.8234769 0.9167906 0.9151711 NA NA 0.07433772 0.06023592 0.8112762 0.9159809 NA 0.06728682 NA FALSE NA 0 -0.406 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 41/57 1 NA TGA G,A 8.283e-06 1:85841294 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 intron_variant 1.944555 0.12289 0.01639 0.053691 0.7488155 0.180835 1.063411e-25 FALSE 1.35408e-05 ENSE00001648073_016 ENSE00001648073 016 1 86306854 86307023 - 51 57 62 T C 86306983 2282 41 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTGTAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841299 85841300 85841300 upstr_intron -22 -0.3387097 GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTGTAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant NA NA NA NA NA 962 140 0.8002713 0.8 0.8001356 0.7990755 0.8234769 0.9167906 0.9151711 NA NA -0.1165194 -0.1151711 0.8112762 0.9159809 NA -0.1158452 NA FALSE NA 0 -1.049 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 41/57 1 NA ATA T,C 8.287e-06 1:85841300 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 intron_variant 1.714793 0.18741 0.07845 0.053691 0.8132881 0.12172 1.063411e-25 FALSE NA ENSE00001648073_017 ENSE00001648073 017 1 86306854 86307023 - 51 57 62 T C 86307001 2283 23 GTGTGTTTTTGATGTTTATTTTGTTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841317 85841318 85841318 upstr_intron -40 -0.6290323 GTGTGTTTTTGATGTTTATTTTGTTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant 48 21 0.9440795 0.974769 0.9594243 334 2561 0.9320597 0.963481 0.9477703 0.7990755 0.8234769 0.9167906 0.9151711 0.145004 0.1512922 0.01526905 0.04830985 0.8112762 0.9159809 0.1481481 0.03178945 0.1163586 FALSE FALSE 0 -1.132 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 41/57 1 NA ATA T,C 1.661e-05 1:85841318 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 intron_variant 0.104588 0.22011 0.02156 0.053691 0.5495441 0.0414318 1.063411e-25 FALSE NA ENSE00001648073_018 ENSE00001648073 018 1 86306854 86307023 - 51 57 62 T C 86307006 2284 18 GTGTGTTTTTGATGTTTGTTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT 85841170 85841340 85841322 85841323 85841323 upstr_intron -45 -0.7096774 GTGTGTTTTTGATGTTTGTTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT GTGTGTTTTTGATGTTTATTTTATTTATTGAGTTTTGTTTATAAATCATTATTTCATTTTAGGGCTACCCAGGAGAAGATAGCACAGTCCTAGGACCACCTGGGCCTCGAGGTGAACCAGTAGGTCTTTTTCTGAAATAATTCTGGTTATTCAAGATAAAACACAATTAT mutant 12 63 0.85 0.85 0.85 1006 475 0.9561514 0.980907 0.9685292 0.7990755 0.8234769 0.9167906 0.9151711 0.05092452 0.02652313 0.03936081 0.0657359 0.8112762 0.9159809 0.03872382 0.05254835 0.01382453 FALSE FALSE 0.037 1.56 rs72952539 intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 41/57 rs72952539 1 C:0.0086 C:0.0303 C:0.0043 NA C:0 C:0 C:0 C:0.0388 C:0.0002 ATA T,C 0.0032 1:85841323 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003543677 intron_variant -0.071954 0.15959 0.21298 0.053691 0.2728363 0.0414318 1.063411e-25 FALSE 0.00275714 ENSE00001649206_000 ENSE00001649206 000 15 40684097 40684266 + 53 75 42 NA NA NA NA NA GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 NA NA NA NA NA NA GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG natural 109 103 0.991954 0.9988651 0.9954096 5748 4067 0.893492 0.957947 0.9257195 0.991954 0.9988651 0.893492 0.957947 0 0 0 0 0.9954096 0.9257195 0 0 0 FALSE FALSE NA NA NA NA NA KNSTRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNSTRN NA NA NA ENSG00000128944 ENSE00003556903 NA NA NA NA NA NA NA 3.158341e-07 FALSE NA ENSE00001649206_001 ENSE00001649206 001 15 40684097 40684266 + 53 75 42 T C 40684110 402 14 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATGAAACCAGACTTGC 40391895 40392065 40391908 40391909 40391909 upstr_intron -40 -0.7358491 GCAAGTCTGGTTTCATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 782 56 0.8828066 0.965272 0.9240393 0.991954 0.9988651 0.893492 0.957947 NA NA -0.01068538 0.00732495 0.9954096 0.9257195 NA -0.001680214 NA FALSE NA 0 -1.598 . intron_variant MODIFIER KNSTRN HGNC 30767 ENST00000608100 7/8 rs576978532 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TTA T,C 8.276e-06 15:40391909 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 non_coding_transcript_exon_variant 0.571722 0.11498 0.00448 0.156188 0.8239233 0.197312 3.158341e-07 FALSE 4.37621e-06 ENSE00001649206_002 ENSE00001649206 002 15 40684097 40684266 + 53 75 42 T C 40684112 403 16 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATGTAAAACCAGACTTGC 40391895 40392065 40391910 40391911 40391911 upstr_intron -38 -0.6981132 GCAAGTCTGGTTTTACATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 868 1190 0.998939 0.9993349 0.999137 0.991954 0.9988651 0.893492 0.957947 NA NA 0.105447 0.04138786 0.9954096 0.9257195 NA 0.07341745 NA FALSE NA 0 -0.603 . intron_variant MODIFIER KNSTRN HGNC 30767 ENST00000608100 7/8 rs376172321 1 NA C:0 C:0.0001 ATA T,C 2.483e-05 15:40391911 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 non_coding_transcript_exon_variant 0.452385 0.09158 0.01669 0.156188 0.8203269 0.197312 3.158341e-07 FALSE 2.61894e-05 ENSE00001649206_003 ENSE00001649206 003 15 40684097 40684266 + 53 75 42 T G 40684124 404 28 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAACCAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40391922 40391923 40391923 upstr_intron -26 -0.4716981 GCAAGTCTGGTTTTATATGAAGATTTGGTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 270 625 0.9506828 0.9999391 0.9753109 0.991954 0.9988651 0.893492 0.957947 NA NA 0.05719081 0.04199204 0.9954096 0.9257195 NA 0.04959142 NA FALSE NA 0.001 -0.87 . intron_variant MODIFIER KNSTRN HGNC 30767 ENST00000608100 7/8 1 NA GTT T,G 8.276e-06 15:40391923 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 non_coding_transcript_exon_variant 1.360291 0.25746 0.06369 0.295142 0.8714822 0.198964 3.158341e-07 FALSE 4.29997e-06 ENSE00001649206_004 ENSE00001649206 004 15 40684097 40684266 + 53 75 42 A G 40684132 405 36 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACGTTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40391930 40391931 40391931 upstr_intron -18 -0.3207547 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACGTTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 15 47 0.9617019 0.9922745 0.9769882 3370 874 0.9983855 0.999819 0.9991022 0.991954 0.9988651 0.893492 0.957947 -0.03025208 -0.006590666 0.1048935 0.04187196 0.9954096 0.9257195 -0.01842138 0.07338272 0.0918041 FALSE FALSE 0 -1.389 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40391931 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 non_coding_transcript_exon_variant 1.096193 0.08465 0.02123 0.295142 0.7764238 0.198964 3.158341e-07 FALSE 8.42602e-05 ENSE00001649206_005 ENSE00001649206 005 15 40684097 40684266 + 53 75 42 A C 40684132 406 36 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACCTTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40391930 40391931 40391931 upstr_intron -18 -0.3207547 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACCTTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 804 1063 0.9889054 0.9999642 0.9944348 0.991954 0.9988651 0.893492 0.957947 NA NA 0.09541342 0.04201714 0.9954096 0.9257195 NA 0.06871528 NA FALSE NA 0 -1.389 NA NA NA KNSTRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNSTRN NA NA NA ENSG00000128944 ENSE00003556903 non_coding_transcript_exon_variant 0.850117 0.08077 0.02043 0.295142 0.7798184 0.198964 3.158341e-07 FALSE 4.21301e-06 ENSE00001649206_006 ENSE00001649206 006 15 40684097 40684266 + 53 75 42 T C 40684134 407 38 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACGATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40391932 40391933 40391933 upstr_intron -16 -0.2830189 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATCGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 57 682 0.9992758 0.9696391 0.9844574 0.991954 0.9988651 0.893492 0.957947 NA NA 0.1057838 0.01169202 0.9954096 0.9257195 NA 0.05873789 NA FALSE NA 0.124 3.418 . intron_variant MODIFIER KNSTRN HGNC 30767 ENST00000608100 7/8 rs377517216 1 C:0.0066 C:0 C:0 NA C:0.001 C:0 C:0.0327 TTG T,C 0.003485 15:40391933 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 non_coding_transcript_exon_variant 1.658043 0.27371 0.55447 0.295142 0.8630862 0.686222 3.158341e-07 FALSE 0.00319168 ENSE00001649206_007 ENSE00001649206 007 15 40684097 40684266 + 53 75 42 G A 40684137 408 41 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGTACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40391935 40391936 40391936 upstr_intron -13 -0.2264151 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTACTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 376 688 0.9975669 0.9992218 0.9983944 0.991954 0.9988651 0.893492 0.957947 NA NA 0.1040749 0.04127476 0.9954096 0.9257195 NA 0.07267483 NA FALSE NA 0.005 -1.695 . intron_variant MODIFIER KNSTRN HGNC 30767 ENST00000608100 7/8 1 NA TGC G,A 8.276e-06 15:40391936 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 non_coding_transcript_exon_variant 1.065519 0.08716 0.00227 0.295142 0.5170596 0.198964 3.158341e-07 FALSE 4.24329e-06 ENSE00001649206_008 ENSE00001649206 008 15 40684097 40684266 + 53 75 42 T C 40684141 409 45 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGGAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40391939 40391940 40391940 upstr_intron -9 -0.1509434 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTCCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 437 1095 0.998242 0.9375633 0.9679027 0.991954 0.9988651 0.893492 0.957947 NA NA 0.10475 -0.0203837 0.9954096 0.9257195 NA 0.04218315 NA FALSE NA 0.61 0.716 . intron_variant MODIFIER KNSTRN HGNC 30767 ENST00000608100 7/8 1 NA TTC T,C 8.277e-06 15:40391940 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 non_coding_transcript_exon_variant 1.766809 0.58395 0.56003 0.295142 0.9133674 0.352098 3.158341e-07 FALSE NA ENSE00001649206_009 ENSE00001649206 009 15 40684097 40684266 + 53 75 42 C T 40684143 410 47 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCTTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40391941 40391942 40391942 upstr_intron -7 -0.1132075 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCTTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 28 19 0.9997004 1 0.9998502 651 2468 0.9993661 0.9344955 0.9669308 0.991954 0.9988651 0.893492 0.957947 0.007746397 0.001134862 0.1058741 -0.02345152 0.9954096 0.9257195 0.00444063 0.0412113 0.03677067 FALSE FALSE 0.02 0.042 . splice_region_variant&intron_variant LOW KNSTRN HGNC 30767 ENST00000608100 7/8 1 NA CCT C,T 8.277e-06 15:40391942 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 splice_region_variant 1.483902 0.37119 0.05795 0.295142 0.6536041 0.390204 3.158341e-07 FALSE 8.51869e-06 ENSE00001649206_010 ENSE00001649206 010 15 40684097 40684266 + 53 75 42 G A 40684149 411 53 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAATTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40391947 40391948 40391948 upstr_intron -1 0 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAATTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 29 164 0 0 0 1098 773 0.01336127 0.01796223 0.01566175 0.991954 0.9988651 0.893492 0.957947 -0.991954 -0.9988651 -0.8801307 -0.9399848 0.9954096 0.9257195 -0.9954096 -0.9100578 0.0853518 TRUE TRUE 1 4.559 . splice_acceptor_variant HIGH KNSTRN HGNC 30767 ENST00000608100 7/8 1 NA HC AGT G,A 2.483e-05 15:40391948 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 splice_acceptor_variant 5.163909 0.97802 0.97708 0.295142 0.994253 0.975857 3.158341e-07 FALSE 3.38464e-05 ENSE00001649206_013 ENSE00001649206 013 15 40684097 40684266 + 53 75 42 G C 40684171 414 75 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAACAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40391969 40391970 40391970 exon 22 0.2933333 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAACAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 10 24 1 0.9997805 0.9998903 715 1318 0.9989013 0.9955478 0.9972245 0.991954 0.9988651 0.893492 0.957947 0.008045998 0.0009153777 0.1054092 0.03760074 0.9954096 0.9257195 0.004480688 0.07150499 0.0670243 FALSE FALSE 1 3.258 . missense_variant MODERATE KNSTRN HGNC 30767 ENST00000608100 8/9 1 tolerated(0.12) benign(0.069) NA AGA G,C 8.276e-06 15:40391970 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 3.987436 0.97917 0.96241 0.706548 0.9605283 0 3.158341e-07 FALSE 4.10718e-06 ENSE00001649206_014 ENSE00001649206 014 15 40684097 40684266 + 53 75 42 A G 40684172 415 76 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGGGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40391970 40391971 40391971 exon 23 0.3066667 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGGGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 458 839 0.8539456 0.9911925 0.922569 0.991954 0.9988651 0.893492 0.957947 NA NA -0.03954638 0.03324541 0.9954096 0.9257195 NA -0.003150486 NA FALSE NA 0.998 0.974 . missense_variant MODERATE KNSTRN HGNC 30767 ENST00000608100 8/9 1 tolerated(0.07) benign(0.001) NA GAG A,G 1.655e-05 15:40391971 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 2.712748 0.9627 0.87687 0.706548 0.9896129 0 3.158341e-07 FALSE 1.23216e-05 ENSE00001649206_015 ENSE00001649206 015 15 40684097 40684266 + 53 75 42 G A 40684173 416 77 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCTTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40391971 40391972 40391972 exon 24 0.32 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAAGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 1528 2400 0.9799205 0.9977885 0.9888545 0.991954 0.9988651 0.893492 0.957947 NA NA 0.08642846 0.0398415 0.9954096 0.9257195 NA 0.06313498 NA FALSE NA 0.996 0.127 . synonymous_variant LOW KNSTRN HGNC 30767 ENST00000608100 8/9 1 NA AGG G,A 4.966e-05 15:40391972 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 0.910124 0.94804 0.42664 0.706548 0.9629084 0 3.158341e-07 FALSE 4.10856e-05 ENSE00001649206_016 ENSE00001649206 016 15 40684097 40684266 + 53 75 42 A T 40684175 417 79 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGTGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40391973 40391974 40391974 exon 26 0.3466667 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGTGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 412 848 1 0.9734027 0.9867013 0.991954 0.9988651 0.893492 0.957947 NA NA 0.106508 0.01545565 0.9954096 0.9257195 NA 0.06098182 NA FALSE NA 1 4.515 . missense_variant MODERATE KNSTRN HGNC 30767 ENST00000608100 8/9 COSM1640222 1 deleterious(0) probably_damaging(0.999) NA GAG A,T 8.276e-06 15:40391974 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 6.633909 0.97606 0.98023 0.706548 0.9949134 0 3.158341e-07 FALSE 4.09531e-06 ENSE00001649206_017 ENSE00001649206 017 15 40684097 40684266 + 53 75 42 C A 40684177 418 81 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCATCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40391975 40391976 40391976 exon 28 0.3733333 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGATGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 88 1041 1 0.9953461 0.9976731 0.991954 0.9988651 0.893492 0.957947 NA NA 0.106508 0.03739908 0.9954096 0.9257195 NA 0.07195354 NA FALSE NA 0.991 0.619 . missense_variant MODERATE KNSTRN HGNC 30767 ENST00000608100 8/9 1 deleterious(0) probably_damaging(0.999) NA GCT C,A 8.276e-06 15:40391976 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 5.903017 0.96744 0.92189 0.706548 0.9583595 0 3.158341e-07 FALSE 1.6384e-05 ENSE00001649206_018 ENSE00001649206 018 15 40684097 40684266 + 53 75 42 C T 40684191 419 95 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAATGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40391989 40391990 40391990 exon -34 0.56 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAATGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 2445 465 0.9977258 0.9995776 0.9986517 0.991954 0.9988651 0.893492 0.957947 NA NA 0.1042338 0.04163059 0.9954096 0.9257195 NA 0.07293218 NA FALSE NA 0.627 -1.167 . synonymous_variant LOW KNSTRN HGNC 30767 ENST00000608100 8/9 rs372765825 1 NA T:0.0008 T:0 ACG C,T 6.62e-05 15:40391990 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 synonymous_variant 1.959683 0.88914 0.02766 0.706548 0.6802478 0 3.158341e-07 FALSE 5.32761e-05 ENSE00001649206_019 ENSE00001649206 019 15 40684097 40684266 + 53 75 42 G A 40684192 420 96 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTTGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40391990 40391991 40391991 exon -33 0.5733333 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACAAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 805 1069 0.9932379 0.9986718 0.9959548 0.991954 0.9988651 0.893492 0.957947 NA NA 0.09974585 0.04072476 0.9954096 0.9257195 NA 0.07023531 NA FALSE NA 0.998 1.385 . missense_variant MODERATE KNSTRN HGNC 30767 ENST00000608100 8/9 rs199907924&COSM1198134&COSM4054353 1 deleterious(0.03) benign(0.184) A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 A:0 A:0.0004 CGA G,A 0.0002234 15:40391991 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 5.471042 0.96711 0.85769 0.706548 0.9991772 0 3.158341e-07 FALSE 0.000204926 ENSE00001649206_020 ENSE00001649206 020 15 40684097 40684266 + 53 75 42 A G 40684193 421 97 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGGAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40391991 40391992 40391992 exon -32 0.5866667 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGGAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 50 43 1 1 1 488 660 1 1 1 0.991954 0.9988651 0.893492 0.957947 0.008045998 0.001134862 0.106508 0.04205295 0.9954096 0.9257195 0.00459043 0.07428047 0.06969004 FALSE FALSE 1 4.574 . missense_variant MODERATE KNSTRN HGNC 30767 ENST00000608100 8/9 1 deleterious(0) possibly_damaging(0.813) NA GAA A,G 8.276e-06 15:40391992 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 6.521739 0.97866 0.97442 0.706548 0.9991506 0 3.158341e-07 FALSE 8.1888e-06 ENSE00001649206_021 ENSE00001649206 021 15 40684097 40684266 + 53 75 42 A G 40684214 422 118 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGGGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40392012 40392013 40392013 exon -11 0.8666667 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGGGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 53 16 0.85 0.85 0.85 807 887 0.9432677 0.939098 0.9411828 0.991954 0.9988651 0.893492 0.957947 -0.141954 -0.1488651 0.04977565 -0.01884901 0.9954096 0.9257195 -0.1454096 0.01546332 0.1608729 FALSE FALSE 1 3.089 . missense_variant MODERATE KNSTRN HGNC 30767 ENST00000608100 8/9 1 deleterious(0.02) probably_damaging(0.911) NA GAG A,G 8.275e-06 15:40392013 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 6.800376 0.97866 0.95649 0.706548 0.9986447 0 3.158341e-07 FALSE 8.239e-06 ENSE00001649206_023 ENSE00001649206 023 15 40684097 40684266 + 53 75 42 A G 40684223 424 127 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACGGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40392021 40392022 40392022 exon -2 0.9866667 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACGGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 1300 1041 0 0.003898526 0.001949263 0.991954 0.9988651 0.893492 0.957947 NA NA -0.893492 -0.9540485 0.9954096 0.9257195 NA -0.9237703 NA TRUE NA 1 3.017 . missense_variant&splice_region_variant MODERATE KNSTRN HGNC 30767 ENST00000608100 8/9 rs527518315 1 deleterious(0) probably_damaging(0.997) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAG A,G 8.275e-06 15:40392022 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 missense_variant 5.602465 0.97747 0.95404 0.706548 0.9982877 0 3.158341e-07 FALSE NA ENSE00001649206_024 ENSE00001649206 024 15 40684097 40684266 + 53 75 42 T G 40684226 425 130 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCCCCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40392024 40392025 40392025 downstr_intron 2 1.04878 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGGGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 64 111 0 0 0 259 94 0.03677215 0 0.01838607 0.991954 0.9988651 0.893492 0.957947 -0.991954 -0.9988651 -0.8567199 -0.957947 0.9954096 0.9257195 -0.9954096 -0.9073335 0.08807612 TRUE TRUE 1 3.915 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40392025 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 splice_donor_variant 4.907688 0.97665 0.96644 0.099367 0.9874122 0.902919 3.158341e-07 FALSE 1.25964e-05 ENSE00001649206_025 ENSE00001649206 025 15 40684097 40684266 + 53 75 42 T C 40684226 426 130 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGCCTCTCGCCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40392024 40392025 40392025 downstr_intron 2 1.04878 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGCGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 83 102 0 0.03878323 0.01939161 436 151 0.01252009 0.003357803 0.007938946 0.991954 0.9988651 0.893492 0.957947 -0.991954 -0.9600819 -0.8809719 -0.9545892 0.9954096 0.9257195 -0.976018 -0.9177806 0.05823737 TRUE TRUE 1 3.915 NA NA NA KNSTRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNSTRN NA NA NA ENSG00000128944 ENSE00003556903 splice_donor_variant 4.626143 0.97576 0.96216 0.099367 0.9873239 0.902919 3.158341e-07 FALSE 8.39757e-06 ENSE00001649206_026 ENSE00001649206 026 15 40684097 40684266 + 53 75 42 G C 40684229 427 133 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGACAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 40392027 40392028 40392028 downstr_intron 5 1.121951 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGACAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 13 59 0 0 0 291 513 0.1568462 0 0.07842308 0.991954 0.9988651 0.893492 0.957947 -0.991954 -0.9988651 -0.7366458 -0.957947 0.9954096 0.9257195 -0.9954096 -0.8472964 0.1481131 TRUE TRUE 1 4.458 . splice_region_variant&intron_variant LOW KNSTRN HGNC 30767 ENST00000608100 8/8 1 NA AGA G,C 8.276e-06 15:40392028 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 splice_region_variant 1.928829 0.98017 0.97317 0.099367 0.953102 0.982687 3.158341e-07 FALSE 4.18288e-06 ENSE00001649206_027 ENSE00001649206 027 15 40684097 40684266 + 53 75 42 G A 40684232 428 136 CTATCATGGTAGGAAATGGTCAGGGTGATGTCTGTCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40392030 40392031 40392031 downstr_intron 8 1.195122 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGACAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant NA NA NA NA NA 136 1682 1 0.9948589 0.9974294 0.991954 0.9988651 0.893492 0.957947 NA NA 0.106508 0.03691181 0.9954096 0.9257195 NA 0.0717099 NA FALSE NA 0.496 0.473 rs72733427 splice_region_variant&intron_variant LOW KNSTRN HGNC 30767 ENST00000608100 8/8 rs72733427 1 A:0.0823 A:0.0711 A:0.085 NA A:0.0129 A:0.1431 A:0.1043 A:0.0742 A:0.1442 GGC G,A 0.123 15:40392031 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 splice_region_variant 1.21041 0.9377 0.63614 0.099367 0.5491098 0.358399 3.158341e-07 FALSE 0.122512 ENSE00001649206_028 ENSE00001649206 028 15 40684097 40684266 + 53 75 42 C T 40684249 429 153 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACTATTTCCTACCATGATAG 40391895 40392065 40392047 40392048 40392048 downstr_intron 25 1.609756 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACTATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 40 28 0.993704 0.9986338 0.9961689 853 915 0.8536326 0.9994993 0.9265659 0.991954 0.9988651 0.893492 0.957947 0.001750001 -0.0002313617 -0.03985944 0.04155228 0.9954096 0.9257195 0.0007593195 0.0008464195 8.710002e-05 FALSE FALSE 0 -2.215 . intron_variant MODIFIER KNSTRN HGNC 30767 ENST00000608100 8/8 1 NA CCA C,T 8.277e-06 15:40392048 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 intron_variant 0.183408 0.1247 0.01668 0.099367 0.6903106 0.0468434 3.158341e-07 FALSE 4.8197e-06 ENSE00001649206_029 ENSE00001649206 029 15 40684097 40684266 + 53 75 42 T C 40684251 430 155 CTATCATGGTAGGAAGTGGTCAGGGTGATGTCTGCCTCTCACCTGTAACTCCTCCATCTGCTTTTTGGCTGTTTCGTTAAAAAGCTTCAGCTCCTCTTGCAAAGTTTCTAACAGCAACTAAGAGGAAAGCACAATGTAGTAAACAAATCTTCATATAAAACCAGACTTGC 40391895 40392065 40392049 40392050 40392050 downstr_intron 27 1.658537 GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCACTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG mutant 13 18 1 1 1 NA NA NA NA NA 0.991954 0.9988651 0.893492 0.957947 0.008045998 0.001134862 NA NA 0.9954096 0.9257195 0.00459043 NA NA NA FALSE 0 -0.674 . intron_variant MODIFIER KNSTRN HGNC 30767 ENST00000608100 8/8 1 NA ATT T,C 8.277e-06 15:40392050 KNSTRN HGNC Symbol protein_coding 11525 ENSG00000128944 ENSE00003556903 intron_variant 0.075148 0.17905 0.02701 0.099367 0.6802022 0.0468434 3.158341e-07 FALSE 4.85753e-06 ENSE00001649206_BRK ENSE00001649206 BRK 15 40684097 40684266 + 53 75 42 A,G; T,T NA NA NA GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTTTTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGCCGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG 40391895 40392065 NA NA NA NA NA NA GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTTTTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGCCGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG GCAAGTCTGGTTTTATATGAAGATTTGTTTACTACATTGTGCTTTCCTCTTAGTTGCTGTTAGAAACTTTGCAAGAGGAGCTGAAGCTTTTTAACGAAACAGCCAAAAAGCAGATGGAGGAGTTACAGGTGAGAGGCAGACATCACCCTGACCATTTCCTACCATGATAG control 121 102 0 0 0 NA NA NA NA NA 0.991954 0.9988651 0.893492 0.957947 -0.991954 -0.9988651 NA NA 0.9954096 0.9257195 -0.9954096 NA NA NA TRUE NA NA NA NA NA KNSTRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNSTRN NA NA NA ENSG00000128944 ENSE00003556903 NA NA NA NA NA NA NA 3.158341e-07 FALSE NA ENSE00001649911_000 ENSE00001649911 000 1 29438830 29438999 + 50 81 39 NA NA NA NA NA AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC 29112317 29112487 NA NA NA NA NA NA AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC natural 73 67 0.7941763 0.8944469 0.8443116 3598 3067 0.9093563 0.9842729 0.9468146 0.7941763 0.8944469 0.9093563 0.9842729 0 0 0 0 0.8443116 0.9468146 0 0 0 FALSE FALSE NA NA NA NA NA EPB41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41 NA NA NA ENSG00000159023 ENSE00003493439 NA NA NA NA NA NA NA 0.06210987 FALSE NA ENSE00001649911_003 ENSE00001649911 003 1 29438830 29438999 + 50 81 39 C G 29438851 932 22 AATTCTTGTTATATCGCTGATGTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC 29112317 29112487 29112338 29112339 29112339 upstr_intron -29 -0.56 AATTCTTGTTATATCGCTGATGTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC mutant 188 20 0 0.066585 0.0332925 NA NA NA NA NA 0.7941763 0.8944469 0.9093563 0.9842729 -0.7941763 -0.8278619 NA NA 0.8443116 0.9468146 -0.8110191 NA NA NA TRUE 0 -0.254 . intron_variant MODIFIER EPB41 HGNC 3377 ENST00000356093 16/18 1 NA TCT C,G 8.236e-06 1:29112339 EPB41 HGNC Symbol protein_coding 232955 ENSG00000159023 ENSE00003493439 intron_variant 1.687589 0.43579 0.2407 0.156188 0.7162529 0.0476178 0.06210987 FALSE 4.06204e-06 ENSE00001649911_004 ENSE00001649911 004 1 29438830 29438999 + 50 81 39 A G 29438859 933 30 AATTCTTGTTATATCGCTGATCTCATATGGCATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC 29112317 29112487 29112346 29112347 29112347 upstr_intron -21 -0.4 AATTCTTGTTATATCGCTGATCTCATATGGCATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC mutant 19 11 0.85 0.85 0.85 NA NA NA NA NA 0.7941763 0.8944469 0.9093563 0.9842729 0.05582366 -0.04444688 NA NA 0.8443116 0.9468146 0.00568839 NA NA NA FALSE 0 -0.428 . intron_variant MODIFIER EPB41 HGNC 3377 ENST00000356093 16/18 1 NA GAC A,G 8.236e-06 1:29112347 EPB41 HGNC Symbol protein_coding 232955 ENSG00000159023 ENSE00003493439 intron_variant 0.937967 0.21614 0.05045 0.295142 0.6172087 0.0833491 0.06210987 FALSE 4.06161e-06 ENSE00001649911_007 ENSE00001649911 007 1 29438830 29438999 + 50 81 39 G A 29438908 936 79 AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACATATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC 29112317 29112487 29112395 29112396 29112396 exon 29 0.3580247 AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACATATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC mutant 47 116 0.85 0.85 0.85 27 547 0.9508761 0.9550397 0.9529579 0.7941763 0.8944469 0.9093563 0.9842729 0.05582366 -0.04444688 0.04151972 -0.02923313 0.8443116 0.9468146 0.00568839 0.006143297 0.0004549072 FALSE FALSE 1 9.599 . missense_variant MODERATE EPB41 HGNC 3377 ENST00000356093 17/19 1 probably_damaging(0.998) NA CGT G,A 1.647e-05 1:29112396 EPB41 HGNC Symbol protein_coding 232955 ENSG00000159023 ENSE00003493439 missense_variant 7.759728 0.99473 0.98991 0.732398 0.9993821 0 0.06210987 FALSE 4.06091e-06 ENSE00001649911_010 ENSE00001649911 010 1 29438830 29438999 + 50 81 39 A C 29438950 939 121 AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGCCCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC 29112317 29112487 29112437 29112438 29112438 exon -11 0.8765432 AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGCCCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC mutant 133 228 0.8417133 0.85 0.8458566 922 162 0.9487535 0.9565017 0.9526276 0.7941763 0.8944469 0.9093563 0.9842729 0.04753692 -0.04444688 0.03939721 -0.02777112 0.8443116 0.9468146 0.00154502 0.005813043 0.004268023 FALSE FALSE 1 9.086 . missense_variant MODERATE EPB41 HGNC 3377 ENST00000356093 17/19 COSM1341644&COSM1341643 1 probably_damaging(0.995) NA GAC A,C 8.236e-06 1:29112438 EPB41 HGNC Symbol protein_coding 232955 ENSG00000159023 ENSE00003493439 missense_variant 6.650702 0.993 0.98931 0.732398 0.9957662 0 0.06210987 FALSE NA ENSE00001649911_014 ENSE00001649911 014 1 29438830 29438999 + 50 81 39 G T 29438983 943 154 AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGTGCCTGGGAGGGGTCCC 29112317 29112487 29112470 29112471 29112471 downstr_intron 23 1.605263 AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGTGCCTGGGAGGGGTCCC AATTCTTGTTATATCGCTGATCTCATATGACATCTTCTCTTTGGTTCCAGACTGTAAAAGGTGGGATTTCAGAGACACGTATTGAAAAGAGAATTGTGATCACAGGAGATGCTGATATTGACCATGATCAGGTGGGAATGTTGAAGAGATCTGGGCCTGGGAGGGGTCCC mutant NA NA NA NA NA 491 1728 0.9758532 0.9774199 0.9766365 0.7941763 0.8944469 0.9093563 0.9842729 NA NA 0.06649682 -0.006852916 0.8443116 0.9468146 NA 0.02982195 NA FALSE NA 0.009 1.608 . intron_variant MODIFIER EPB41 HGNC 3377 ENST00000356093 17/18 1 NA GGG G,T 8.236e-06 1:29112471 EPB41 HGNC Symbol protein_coding 232955 ENSG00000159023 ENSE00003493439 intron_variant 0.975509 0.65885 0.08273 0.099367 0.8348176 0.134497 0.06210987 FALSE 8.12275e-06 ENSE00001649956_000 ENSE00001649956 000 9 34485385 34485554 + 50 81 39 NA NA NA NA NA AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 NA NA NA NA NA NA AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT natural 33 21 0.9932242 0.9864181 0.9898212 1105 1769 0.9846009 0.9614172 0.973009 0.9932242 0.9864181 0.9846009 0.9614172 0 0 0 0 0.9898212 0.973009 0 0 0 FALSE FALSE NA NA NA NA NA DNAI1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAI1 NA NA NA ENSG00000122735 ENSE00003613629 NA NA NA NA NA NA NA 0.0001273439 FALSE NA ENSE00001649956_001 ENSE00001649956 001 9 34485385 34485554 + 50 81 39 G A 34485395 337 11 AGGGTTGGGGAGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485396 34485397 34485397 upstr_intron -40 -0.78 AGGGTTGGGGAGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 1121 1529 0.9128652 0.9817394 0.9473023 0.9932242 0.9864181 0.9846009 0.9614172 NA NA -0.07173562 0.02032213 0.9898212 0.973009 NA -0.02570675 NA FALSE NA 0 -0.411 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 1/8 1 NA GGG G,A 8.236e-06 9:34485397 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant 0.61515 0.17332 0.0394 0.06567 0.7130766 0.112627 0.0001273439 FALSE 8.18197e-06 ENSE00001649956_002 ENSE00001649956 002 9 34485385 34485554 + 50 81 39 A C 34485402 338 18 AGGGTTGGGGGGTCTTCCTGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485403 34485404 34485404 upstr_intron -33 -0.64 AGGGTTGGGGGGTCTTCCTGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 368 789 1 0.9995162 0.9997581 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.03809897 0.9898212 0.973009 NA 0.02674906 NA FALSE NA 0 0.423 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 1/8 1 NA CAT A,C 8.236e-06 9:34485404 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant 0.403534 0.22582 0.11371 0.06567 0.786355 0.112627 0.0001273439 FALSE 4.07455e-06 ENSE00001649956_003 ENSE00001649956 003 9 34485385 34485554 + 50 81 39 T G 34485403 339 19 AGGGTTGGGGGGTCTTCAGGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485404 34485405 34485405 upstr_intron -32 -0.62 AGGGTTGGGGGGTCTTCAGGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 120 259 1 1 1 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.03858277 0.9898212 0.973009 NA 0.02699096 NA FALSE NA 0 -0.13 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 1/8 rs201016554 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 ATG T,G 0.0004283 9:34485405 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant 0.71843 0.20508 0.12278 0.06567 0.792778 0.112627 0.0001273439 FALSE 0.000423629 ENSE00001649956_005 ENSE00001649956 005 9 34485385 34485554 + 50 81 39 C T 34485410 341 26 AGGGTTGGGGGGTCTTCATGTATGATCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485411 34485412 34485412 upstr_intron -25 -0.48 AGGGTTGGGGGGTCTTCATGTATGATCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 10 105 1 1 1 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.03858277 0.9898212 0.973009 NA 0.02699096 NA FALSE NA 0 -0.288 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 1/8 rs376344776 1 NA T:0.0002 T:0 ACC C,T 1.647e-05 9:34485412 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant 0.46895 0.1659 0.03667 0.06567 0.6854372 0.152352 0.0001273439 FALSE 8.13464e-06 ENSE00001649956_006 ENSE00001649956 006 9 34485385 34485554 + 50 81 39 C T 34485411 342 27 AGGGTTGGGGGGTCTTCATGTATGACTCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485412 34485413 34485413 upstr_intron -24 -0.46 AGGGTTGGGGGGTCTTCATGTATGACTCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 648 16 0.9177032 0.9899845 0.9538439 0.9932242 0.9864181 0.9846009 0.9614172 NA NA -0.06689765 0.02856732 0.9898212 0.973009 NA -0.01916517 NA FALSE NA 0 -1.298 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 1/8 1 NA CCC C,T 6.589e-05 9:34485413 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant -0.022156 0.12437 0.00685 0.06567 0.8160794 0.152352 0.0001273439 FALSE 8.94716e-05 ENSE00001649956_007 ENSE00001649956 007 9 34485385 34485554 + 50 81 39 C T 34485412 343 28 AGGGTTGGGGGGTCTTCATGTATGACCTTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485413 34485414 34485414 upstr_intron -23 -0.44 AGGGTTGGGGGGTCTTCATGTATGACCTTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 53 927 1 0.9941284 0.9970642 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.0327112 0.9898212 0.973009 NA 0.02405517 NA FALSE NA 0 -0.829 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 1/8 1 NA CCT C,T 8.236e-06 9:34485414 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant 0.498982 0.1851 0.01954 0.06567 0.7275597 0.152352 0.0001273439 FALSE 8.13273e-06 ENSE00001649956_008 ENSE00001649956 008 9 34485385 34485554 + 50 81 39 C T 34485414 344 30 AGGGTTGGGGGGTCTTCATGTATGACCCTTTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485415 34485416 34485416 upstr_intron -21 -0.4 AGGGTTGGGGGGTCTTCATGTATGACCCTTTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 510 382 1 0.9787166 0.9893583 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.0172994 0.9898212 0.973009 NA 0.01634927 NA FALSE NA 0 -0.931 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 1/8 1 NA TCT C,T 8.236e-06 9:34485416 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant 0.473668 0.13677 0.00927 0.06567 0.7621877 0.152352 0.0001273439 FALSE 4.06494e-06 ENSE00001649956_009 ENSE00001649956 009 9 34485385 34485554 + 50 81 39 T C 34485416 345 32 AGGGTTGGGGGGTCTTCATGTATGACCCTCTCGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485417 34485418 34485418 upstr_intron -19 -0.36 AGGGTTGGGGGGTCTTCATGTATGACCCTCTCGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 427 41 0.9896013 1 0.9948006 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.005000442 0.03858277 0.9898212 0.973009 NA 0.02179161 NA FALSE NA 0.98 2.202 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 1/8 1 NA TTG T,C 8.236e-06 9:34485418 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant 0.303113 0.2157 0.56824 0.06567 0.7261464 0.152352 0.0001273439 FALSE 4.06362e-06 ENSE00001649956_011 ENSE00001649956 011 9 34485385 34485554 + 50 81 39 C T 34485456 347 72 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTTGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485457 34485458 34485458 exon 22 0.2716049 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTTGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 297 419 0.9919727 0.9996224 0.9957975 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.007371806 0.03820513 0.9898212 0.973009 NA 0.02278847 NA FALSE NA 1 3.028 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/9 1 NA TCG C,T 2.471e-05 9:34485458 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 missense_variant 7.514369 0.97772 0.83043 0.553676 0.999228 0 0.0001273439 FALSE 2.03057e-05 ENSE00001649956_012 ENSE00001649956 012 9 34485385 34485554 + 50 81 39 G A 34485457 348 73 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCAGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485458 34485459 34485459 exon 23 0.2839506 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCAGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 154 824 0.8510062 0.8045611 0.8277837 0.9932242 0.9864181 0.9846009 0.9614172 NA NA -0.1335946 -0.1568561 0.9898212 0.973009 NA -0.1452254 NA FALSE NA 1 7.35 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/9 1 NA CGG G,A 2.471e-05 9:34485459 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 missense_variant 7.240391 0.98697 0.96204 0.553676 0.9995742 0 0.0001273439 FALSE 2.03062e-05 ENSE00001649956_013 ENSE00001649956 013 9 34485385 34485554 + 50 81 39 C G 34485480 349 96 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCAGACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485481 34485482 34485482 exon -36 0.5679012 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCAGACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 547 631 0.9987139 0.9923892 0.9955516 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01411309 0.03097198 0.9898212 0.973009 NA 0.02254254 NA FALSE NA 1 4.086 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/9 1 NA ACA C,G 8.236e-06 9:34485482 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 missense_variant 4.441406 0.97867 0.91259 0.553676 0.9924333 0 0.0001273439 FALSE 4.06088e-06 ENSE00001649956_014 ENSE00001649956 014 9 34485385 34485554 + 50 81 39 C T 34485482 350 98 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACATGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485483 34485484 34485484 exon -34 0.5925926 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACATGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 815 101 0.9999495 0.9805964 0.9902729 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01534864 0.01917914 0.9898212 0.973009 NA 0.01726389 NA FALSE NA 0.032 -0.828 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/9 1 NA ACG C,T 4.118e-05 9:34485484 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 synonymous_variant 1.302229 0.88046 0.01681 0.553676 0.7180899 0 0.0001273439 FALSE 3.24886e-05 ENSE00001649956_015 ENSE00001649956 015 9 34485385 34485554 + 50 81 39 G A 34485483 351 99 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACACACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485484 34485485 34485485 exon -33 0.6049383 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACACACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 28 416 1 0.9613506 0.9806753 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 -6.666818e-05 0.9898212 0.973009 NA 0.007666239 NA FALSE NA 1 5.598 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/9 1 NA CGC G,A 8.236e-06 9:34485485 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 missense_variant 6.696162 0.98697 0.93587 0.553676 0.9992979 0 0.0001273439 FALSE 8.12222e-06 ENSE00001649956_017 ENSE00001649956 017 9 34485385 34485554 + 50 81 39 C G 34485489 353 105 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCGAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485490 34485491 34485491 exon -27 0.6790123 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCGAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 483 84 1 1 1 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.03858277 0.9898212 0.973009 NA 0.02699096 NA FALSE NA 1 5.829 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/9 1 NA CCA C,G 1.647e-05 9:34485491 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 missense_variant 1.926705 0.98811 0.96208 0.553676 0.9937157 0 0.0001273439 FALSE 8.12222e-06 ENSE00001649956_018 ENSE00001649956 018 9 34485385 34485554 + 50 81 39 T C 34485496 354 112 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACACTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485497 34485498 34485498 exon -20 0.7654321 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACACTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 214 385 1 0.9974899 0.9987449 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.03607263 0.9898212 0.973009 NA 0.02573589 NA FALSE NA 1 5.99 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/9 rs375988210 1 NA C:0 C:0.0001 ATT T,C 1.647e-05 9:34485498 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 missense_variant 5.308544 0.98505 0.94929 0.487112 0.9973358 0 0.0001273439 FALSE 1.21834e-05 ENSE00001649956_019 ENSE00001649956 019 9 34485385 34485554 + 50 81 39 T C 34485510 355 126 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCCTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485511 34485512 34485512 exon -6 0.9382716 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCCTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 254 307 1 1 1 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.03858277 0.9898212 0.973009 NA 0.02699096 NA FALSE NA 1 3.392 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/9 rs376483151 1 NA C:0.0002 C:0 CTT T,C 8.236e-06 9:34485512 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 missense_variant 4.242277 0.98505 0.91112 0.487112 0.9985706 0 0.0001273439 FALSE 1.21886e-05 ENSE00001649956_020 ENSE00001649956 020 9 34485385 34485554 + 50 81 39 A G 34485523 356 139 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCGTCCCCTCCTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485524 34485525 34485525 downstr_intron 8 1.210526 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCGTCCCCTCCTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 629 517 0.9976873 0.9749567 0.986322 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01308645 0.01353951 0.9898212 0.973009 NA 0.01331298 NA FALSE NA 0.883 0.517 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DNAI1 HGNC 2954 ENST00000488369 2/8 1 NA CAT A,G 8.236e-06 9:34485525 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 splice_region_variant 1.242039 0.24361 0.0477 0.06567 0.7542855 0.310902 0.0001273439 FALSE 4.06653e-06 ENSE00001649956_021 ENSE00001649956 021 9 34485385 34485554 + 50 81 39 C T 34485531 357 147 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCTTGGGCAGGGGCATCTATACCCAT 34485386 34485556 34485532 34485533 34485533 downstr_intron 16 1.421053 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCTTGGGCAGGGGCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 279 227 1 1 1 0.9932242 0.9864181 0.9846009 0.9614172 NA NA 0.01539915 0.03858277 0.9898212 0.973009 NA 0.02699096 NA FALSE NA 0 -1.302 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/8 rs373020025 1 NA T:0.0002 T:0 CCT C,T 8.236e-06 9:34485533 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant 2.029677 0.15322 0.01291 0.06567 0.7930768 0.293126 0.0001273439 FALSE 4.07581e-06 ENSE00001649956_022 ENSE00001649956 022 9 34485385 34485554 + 50 81 39 G T 34485541 358 157 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGTCATCTATACCCAT 34485386 34485556 34485542 34485543 34485543 downstr_intron 26 1.684211 AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGTCATCTATACCCAT AGGGTTGGGGGGTCTTCATGTATGACCCTCTTGGTATTTTTCTCCCTCAGGAGTTAAAGGAGGAGTTCACTCGGATTTTGACAGCCAACAACCCACACGCACCCCAGAACATTGTCAGGTACAGCTTCAAAGTAAGTCATCCCCTCCTGGGCAGGGGCATCTATACCCAT mutant NA NA NA NA NA 883 105 0.8965833 1 0.9482917 0.9932242 0.9864181 0.9846009 0.9614172 NA NA -0.08801755 0.03858277 0.9898212 0.973009 NA -0.02471739 NA FALSE NA 0 0.204 . intron_variant&non_coding_transcript_variant MODIFIER DNAI1 HGNC 2954 ENST00000488369 2/8 rs558874385 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GGC G,T 8.237e-06 9:34485543 DNAI1 HGNC Symbol protein_coding 63575 ENSG00000122735 ENSE00003613629 intron_variant -0.103832 0.19334 0.11288 0.06567 0.7021066 0.0666035 0.0001273439 FALSE 4.10438e-06 ENSE00001650565_000 ENSE00001650565 000 18 47398490 47398659 - 47 66 57 NA NA NA NA NA CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 NA NA NA NA NA NA CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG natural NA NA NA NA NA 682 693 0.9969432 0.8658663 0.9314048 NA NA 0.9969432 0.8658663 NA NA 0 0 NA 0.9314048 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO5B NA NA NA ENSG00000167306 ENSE00003474654 NA NA NA NA NA NA NA 5.423175e-10 FALSE NA ENSE00001650565_004 ENSE00001650565 004 18 47398490 47398659 - 47 66 57 T C 47398504 645 156 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACGCTCCCCTGGCAGAG 49872119 49872289 49872133 49872134 49872134 downstr_intron 33 1.717391 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACGCTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 48 33 0.9991395 1 0.9995697 NA NA 0.9969432 0.8658663 NA NA 0.002196221 0.1341337 NA 0.9314048 NA 0.06816496 NA FALSE NA 0 -2.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:49872134 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 intron_variant -0.369928 0.14459 0.00691 0.06567 0.3086813 0.0455939 5.423175e-10 FALSE 0.254604 ENSE00001650565_005 ENSE00001650565 005 18 47398490 47398659 - 47 66 57 T G 47398504 646 156 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACCCTCCCCTGGCAGAG 49872119 49872289 49872133 49872134 49872134 downstr_intron 33 1.717391 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACCCTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 47 355 1 1 1 NA NA 0.9969432 0.8658663 NA NA 0.003056752 0.1341337 NA 0.9314048 NA 0.06859522 NA FALSE NA 0 -2.44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO5B NA NA NA ENSG00000167306 ENSE00003474654 intron_variant -0.177286 0.14763 0.00159 0.06567 0.3776518 0.0455939 5.423175e-10 FALSE 4.06392e-06 ENSE00001650565_008 ENSE00001650565 008 18 47398490 47398659 - 47 66 57 G A 47398519 649 141 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGATAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872148 49872149 49872149 downstr_intron 18 1.391304 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGATAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 549 105 1 1 1 NA NA 0.9969432 0.8658663 NA NA 0.003056752 0.1341337 NA 0.9314048 NA 0.06859522 NA FALSE NA 0.01 0.283 NA NA NA MYO5B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:49872149 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 intron_variant 0.166115 0.28886 0.05262 0.078448 0.6393534 0.0625886 5.423175e-10 FALSE 1.21868e-05 ENSE00001650565_010 ENSE00001650565 010 18 47398490 47398659 - 47 66 57 C T 47398544 651 116 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAATCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872173 49872174 49872174 exon -8 0.8939394 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAATCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 81 595 1 0.9888444 0.9944222 NA NA 0.9969432 0.8658663 NA NA 0.003056752 0.1229781 NA 0.9314048 NA 0.06301742 NA FALSE NA 1 1.938 . missense_variant MODERATE MYO5B HGNC 7603 ENST00000324581 7/19 1 benign(0.003) NA ACT C,T 8.275e-06 18:49872174 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 missense_variant 2.541731 0.97852 0.89252 0.615465 0.9815028 0 5.423175e-10 FALSE 4.0618e-06 ENSE00001650565_012 ENSE00001650565 012 18 47398490 47398659 - 47 66 57 A C 47398558 653 102 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGAGCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872187 49872188 49872188 exon -22 0.6818182 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGAGCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 1332 13 0.9991937 0.8 0.8995969 NA NA 0.9969432 0.8658663 NA NA 0.002250459 -0.0658663 NA 0.9314048 NA -0.03180792 NA FALSE NA 1 1.573 . missense_variant MODERATE MYO5B HGNC 7603 ENST00000324581 7/19 rs541626099 1 benign(0.008) NA GAT A,C 1.655e-05 18:49872188 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 missense_variant 0.466404 0.98175 0.97153 0.615465 0.9875443 0 5.423175e-10 FALSE 2.437e-05 ENSE00001650565_013 ENSE00001650565 013 18 47398490 47398659 - 47 66 57 C T 47398567 654 93 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCAAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872196 49872197 49872197 exon -31 0.5454545 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCAAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 118 675 1 1 1 NA NA 0.9969432 0.8658663 NA NA 0.003056752 0.1341337 NA 0.9314048 NA 0.06859522 NA FALSE NA 0.99 -0.083 . synonymous_variant LOW MYO5B HGNC 7603 ENST00000324581 7/19 COSM262262 1 NA TCG C,T 1.655e-05 18:49872197 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 synonymous_variant 0.953513 0.94443 0.5794 0.615465 0.6836979 0 5.423175e-10 FALSE 1.21851e-05 ENSE00001650565_014 ENSE00001650565 014 18 47398490 47398659 - 47 66 57 G A 47398568 655 92 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCTGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872197 49872198 49872198 exon -32 0.530303 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCTGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 261 249 0.9922775 1 0.9961388 NA NA 0.9969432 0.8658663 NA NA -0.004665702 0.1341337 NA 0.9314048 NA 0.064734 NA FALSE NA 0.999 0.832 . missense_variant MODERATE MYO5B HGNC 7603 ENST00000324581 7/19 rs373211672 1 benign(0.003) A:0.0004 A:0 A:0 NA A:0 A:0.001 A:0.001 A:0 A:0.0001 CGG G,A 0.0003557 18:49872198 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 missense_variant 1.768324 0.9813 0.71026 0.615465 0.7654708 0 5.423175e-10 FALSE 0.000341172 ENSE00001650565_016 ENSE00001650565 016 18 47398490 47398659 - 47 66 57 C G 47398578 657 82 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATACATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872207 49872208 49872208 exon 25 0.3787879 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATACATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 230 387 0.9985597 1 0.9992799 NA NA 0.9969432 0.8658663 NA NA 0.001616471 0.1341337 NA 0.9314048 NA 0.06787508 NA FALSE NA 0.012 1.117 . missense_variant MODERATE MYO5B HGNC 7603 ENST00000324581 7/19 rs201172517 1 benign(0.083) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TCT C,G 8.272e-06 18:49872208 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 missense_variant 0.738812 0.38609 0.32524 0.706298 0.9474238 0 5.423175e-10 FALSE 4.06144e-06 ENSE00001650565_020 ENSE00001650565 020 18 47398490 47398659 - 47 66 57 T C 47398608 661 52 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCGTGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872237 49872238 49872238 upstr_intron -6 -0.0877193 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCGTGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 40 32 0.963607 1 0.9818035 NA NA 0.9969432 0.8658663 NA NA -0.03333624 0.1341337 NA 0.9314048 NA 0.05039873 NA FALSE NA 0 -3.208 rs184723047 splice_region_variant&intron_variant LOW MYO5B HGNC 7603 ENST00000324581 6/18 rs184723047 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 C:0 C:0.0002 ATG T,C 4.962e-05 18:49872238 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 splice_region_variant -1.00746 0.07033 0.00539 0.06567 0.2896056 0.0882523 5.423175e-10 FALSE 5.28013e-05 ENSE00001650565_022 ENSE00001650565 022 18 47398490 47398659 - 47 66 57 A G 47398615 663 45 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCCCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872244 49872245 49872245 upstr_intron -13 -0.2105263 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCCCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 36 203 1 1 1 NA NA 0.9969432 0.8658663 NA NA 0.003056752 0.1341337 NA 0.9314048 NA 0.06859522 NA FALSE NA 0.274 1.105 rs189418976 intron_variant MODIFIER MYO5B HGNC 7603 ENST00000324581 6/18 rs189418976 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GAG A,G 2.481e-05 18:49872245 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 intron_variant 0.033209 0.22184 0.12206 0.06567 0.3726029 0.084869 5.423175e-10 FALSE 1.21858e-05 ENSE00001650565_024 ENSE00001650565 024 18 47398490 47398659 - 47 66 57 A G 47398625 665 35 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTACCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872254 49872255 49872255 upstr_intron -23 -0.3859649 CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTACCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 816 24 0.9440191 0.9527018 0.9483605 NA NA 0.9969432 0.8658663 NA NA -0.05292413 0.08683551 NA 0.9314048 NA 0.01695569 NA FALSE NA 0.001 0.691 . intron_variant MODIFIER MYO5B HGNC 7603 ENST00000324581 6/18 1 NA GAT A,G 2.48e-05 18:49872255 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 intron_variant -0.035692 0.16343 0.00505 0.06567 0.4653704 0.0616993 5.423175e-10 FALSE 2.03113e-05 ENSE00001650565_025 ENSE00001650565 025 18 47398490 47398659 - 47 66 57 A G 47398635 666 25 CTCTGTGGAATATCTTGCTCGAGGCCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872264 49872265 49872265 upstr_intron -33 -0.5614035 CTCTGTGGAATATCTTGCTCGAGGCCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 400 58 0.9890949 1 0.9945474 NA NA 0.9969432 0.8658663 NA NA -0.007848356 0.1341337 NA 0.9314048 NA 0.06314267 NA FALSE NA 0.003 0.426 . intron_variant MODIFIER MYO5B HGNC 7603 ENST00000324581 6/18 1 NA GAC A,G 8.267e-06 18:49872265 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 intron_variant -0.138991 0.16823 0.01691 0.06567 0.349064 0.0469587 5.423175e-10 FALSE 4.06312e-06 ENSE00001650565_027 ENSE00001650565 027 18 47398490 47398659 - 47 66 57 G C 47398640 668 20 CTCTGTGGAATATCTTGCTGGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872269 49872270 49872270 upstr_intron -38 -0.6491228 CTCTGTGGAATATCTTGCTGGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 651 261 0.9976373 1 0.9988186 NA NA 0.9969432 0.8658663 NA NA 0.0006940206 0.1341337 NA 0.9314048 NA 0.06741386 NA FALSE NA 0.002 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:49872270 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00003474654 intron_variant -0.350438 0.21754 0.03883 0.06567 0.5665561 0.0469587 5.423175e-10 FALSE 0.000276337 ENSE00001650565_028 ENSE00001650565 028 18 47398490 47398659 - 47 66 57 G A 47398640 669 20 CTCTGTGGAATATCTTGCTTGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872269 49872270 49872270 upstr_intron -38 -0.6491228 CTCTGTGGAATATCTTGCTTGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 170 666 1 1 1 NA NA 0.9969432 0.8658663 NA NA 0.003056752 0.1341337 NA 0.9314048 NA 0.06859522 NA FALSE NA 0.002 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003474654 intron_variant -0.058813 0.07519 0.00082 0.06567 0.6354656 0.0469587 0.0002572748 FALSE 1.62551e-05 ENSE00001650565_029 ENSE00001650565 029 18 47398490 47398659 - 47 66 57 G T 47398640 670 20 CTCTGTGGAATATCTTGCTAGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG 49872119 49872289 49872269 49872270 49872270 upstr_intron -38 -0.6491228 CTCTGTGGAATATCTTGCTAGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG CTCTGTGGAATATCTTGCTCGAGGTCTGCACTTATCTTTGTGTCTCTATCCATGCAGGCGGAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTGAAGGTAAGATTCTTGGGGGACAGGCTTCCTGGAACACTCCCCTGGCAGAG mutant NA NA NA NA NA 142 827 0.9956548 0.9016716 0.9486632 NA NA 0.9969432 0.8658663 NA NA -0.001288416 0.03580532 NA 0.9314048 NA 0.01725845 NA FALSE NA 0.002 0.098 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO5B NA NA NA ENSG00000167306 ENSE00003474654 intron_variant -0.248882 0.19971 0.03312 0.06567 0.6314254 0.0469587 5.423175e-10 FALSE 1.21914e-05 ENSE00001650689_000 ENSE00001650689 000 10 6259036 6259205 + 62 57 51 NA NA NA NA NA TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 NA NA NA NA NA NA TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC natural NA NA NA NA NA 998 2694 0.9615712 0.9646047 0.963088 NA NA 0.9615712 0.9646047 NA NA 0 0 NA 0.963088 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKFB3 NA NA NA ENSG00000170525 ENSE00001650689 NA NA NA NA NA NA NA 0.04893181 FALSE NA ENSE00001650689_002 ENSE00001650689 002 10 6259036 6259205 + 62 57 51 G T 6259057 243 22 TGATGGCAAGGTTGATCCTTCTTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217093 6217094 6217094 upstr_intron -41 -0.6451613 TGATGGCAAGGTTGATCCTTCTTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 692 154 0.9620984 0.977107 0.9696027 NA NA 0.9615712 0.9646047 NA NA 0.0005271727 0.01250227 NA 0.963088 NA 0.006514721 NA FALSE NA 0 -0.185 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:6217094 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant -0.481789 0.23695 0.19594 0.160075 0.6311575 0.0489644 0.04893181 FALSE NA ENSE00001650689_003 ENSE00001650689 003 10 6259036 6259205 + 62 57 51 G A 6259057 244 22 TGATGGCAAGGTTGATCCTTCATGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217093 6217094 6217094 upstr_intron -41 -0.6451613 TGATGGCAAGGTTGATCCTTCATGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant 24 92 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9615712 0.9646047 NA NA NA NA NA 0.963088 NA NA NA NA NA 0 -0.185 NA NA NA PFKFB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKFB3 NA NA NA ENSG00000170525 ENSE00001650689 intron_variant -0.337984 0.23897 0.17198 0.160075 0.7608458 0.0489644 0.04893181 FALSE 1.2189e-05 ENSE00001650689_007 ENSE00001650689 007 10 6259036 6259205 + 62 57 51 T C 6259070 248 35 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTCCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217106 6217107 6217107 upstr_intron -28 -0.4354839 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTCCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 1358 333 0.8936341 0.8156722 0.8546531 NA NA 0.9615712 0.9646047 NA NA -0.06793716 -0.1489325 NA 0.963088 NA -0.1084348 NA FALSE NA 0.001 0 . intron_variant MODIFIER PFKFB3 HGNC 8874 ENST00000540253 5/14 1 NA TTC T,C 8.236e-06 10:6217107 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant 0.38108 0.29244 0.07193 0.359288 0.5509213 0.0489644 0.04893181 FALSE 4.06154e-06 ENSE00001650689_009 ENSE00001650689 009 10 6259036 6259205 + 62 57 51 A T 6259076 250 41 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACTTCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217112 6217113 6217113 upstr_intron -22 -0.3387097 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACTTCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 1949 333 0.8875351 0.9493138 0.9184245 NA NA 0.9615712 0.9646047 NA NA -0.0740361 -0.01529088 NA 0.963088 NA -0.04466349 NA FALSE NA 0 -0.378 . intron_variant MODIFIER PFKFB3 HGNC 8874 ENST00000540253 5/14 1 NA CAT A,T 8.236e-06 10:6217113 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant -0.136603 0.21871 0.10856 0.359288 0.5408952 0.0489644 0.04893181 FALSE 8.12242e-06 ENSE00001650689_012 ENSE00001650689 012 10 6259036 6259205 + 62 57 51 C G 6259084 253 49 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACGTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217120 6217121 6217121 upstr_intron -14 -0.2096774 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACGTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 173 646 0.0935514 0.06005817 0.07680478 NA NA 0.9615712 0.9646047 NA NA -0.8680198 -0.9045465 NA 0.963088 NA -0.8862832 NA TRUE NA 0 0.028 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:6217121 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant 0.086943 0.37481 0.39095 0.359288 0.3566061 0.0489644 0.04893181 FALSE 4.06111e-06 ENSE00001650689_013 ENSE00001650689 013 10 6259036 6259205 + 62 57 51 C T 6259084 254 49 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACTTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217120 6217121 6217121 upstr_intron -14 -0.2096774 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACTTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 60 260 1 1 1 NA NA 0.9615712 0.9646047 NA NA 0.03842876 0.03539531 NA 0.963088 NA 0.03691204 NA FALSE NA 0 0.028 NA NA NA PFKFB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKFB3 NA NA NA ENSG00000170525 ENSE00001650689 intron_variant 0.177786 0.33214 0.14615 0.359288 0.4830716 0.0489644 0.04893181 FALSE 8.12222e-06 ENSE00001650689_014 ENSE00001650689 014 10 6259036 6259205 + 62 57 51 C T 6259095 255 60 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACTAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217131 6217132 6217132 upstr_intron -3 -0.03225806 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACTAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 381 600 0.8192818 0.8 0.8096409 NA NA 0.9615712 0.9646047 NA NA -0.1422894 -0.1646047 NA 0.963088 NA -0.1534471 NA FALSE NA 1 5.021 . splice_region_variant&intron_variant LOW PFKFB3 HGNC 8874 ENST00000540253 5/14 1 NA CCA C,T 8.236e-06 10:6217132 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 splice_region_variant 0.706881 0.93807 0.70597 0.359288 0.679007 0.161782 0.04893181 FALSE 4.06098e-06 ENSE00001650689_016 ENSE00001650689 016 10 6259036 6259205 + 62 57 51 G A 6259100 257 65 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCATTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217136 6217137 6217137 exon 3 0.05263158 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCATTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 41 624 0.95 0.9896319 0.969816 NA NA 0.9615712 0.9646047 NA NA -0.01157124 0.02502723 NA 0.963088 NA 0.006727998 NA FALSE NA 0.631 0.02 rs34969226 splice_region_variant&synonymous_variant LOW PFKFB3 HGNC 8874 ENST00000540253 6/15 rs34969226 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0018 A:0 CGT G,A 0.0001153 10:6217137 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 splice_region_variant 0.482945 0.93253 0.79911 0.719381 0.5216862 0 0.04893181 FALSE 0.000134011 ENSE00001650689_019 ENSE00001650689 019 10 6259036 6259205 + 62 57 51 G A 6259115 260 80 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCAGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217151 6217152 6217152 exon 18 0.3157895 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCAGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 12 114 0.95 0.8 0.875 NA NA 0.9615712 0.9646047 NA NA -0.01157124 -0.1646047 NA 0.963088 NA -0.08808796 NA FALSE NA 0 -3.144 rs79668213 synonymous_variant LOW PFKFB3 HGNC 8874 ENST00000540253 6/15 rs79668213 1 NA A:0.0002 A:0 CGG G,A 0.0001318 10:6217152 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 synonymous_variant 0.215851 0.17485 0.09361 0.706548 0.5504841 0 0.04893181 FALSE 0.000117768 ENSE00001650689_021 ENSE00001650689 021 10 6259036 6259205 + 62 57 51 T C 6259117 262 82 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGCGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217153 6217154 6217154 exon 20 0.3508772 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGCGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 583 64 0.9929153 0.95 0.9714577 NA NA 0.9615712 0.9646047 NA NA 0.03134407 -0.01460469 NA 0.963088 NA 0.008369692 NA FALSE NA 1 7.789 . missense_variant MODERATE PFKFB3 HGNC 8874 ENST00000540253 6/15 1 possibly_damaging(0.768) NA GTG T,C 8.236e-06 10:6217154 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 missense_variant 4.712145 0.97832 0.97997 0.706548 0.9967688 0 0.04893181 FALSE 4.06072e-06 ENSE00001650689_022 ENSE00001650689 022 10 6259036 6259205 + 62 57 51 C T 6259121 263 86 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGTGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217157 6217158 6217158 exon 24 0.4210526 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGTGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant 34 51 0.85 0.85 0.85 187 39 0.9605168 0.9805075 0.9705122 NA NA 0.9615712 0.9646047 NA NA -0.001054387 0.01590277 NA 0.963088 NA 0.007424192 NA FALSE NA 0.055 -1.116 . synonymous_variant LOW PFKFB3 HGNC 8874 ENST00000540253 6/15 1 NA GCG C,T 8.236e-06 10:6217158 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 synonymous_variant 1.138694 0.88554 0.11558 0.706548 0.6457687 0 0.04893181 FALSE 8.12156e-06 ENSE00001650689_024 ENSE00001650689 024 10 6259036 6259205 + 62 57 51 C T 6259124 265 89 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGATGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217160 6217161 6217161 exon 27 0.4736842 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGATGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 193 399 0.9010984 0.9224601 0.9117793 NA NA 0.9615712 0.9646047 NA NA -0.06047283 -0.04214458 NA 0.963088 NA -0.0513087 NA FALSE NA 0.026 -0.695 . synonymous_variant LOW PFKFB3 HGNC 8874 ENST00000540253 6/15 rs573415324 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 1.647e-05 10:6217161 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 synonymous_variant 1.6057 0.91293 0.15579 0.706548 0.5118261 0 0.04893181 FALSE 1.21822e-05 ENSE00001650689_027 ENSE00001650689 027 10 6259036 6259205 + 62 57 51 T C 6259153 268 118 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCACGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217189 6217190 6217190 exon -2 0.9824561 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCACGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 431 166 1 0.997674 0.998837 NA NA 0.9615712 0.9646047 NA NA 0.03842876 0.03306927 NA 0.963088 NA 0.03574902 NA FALSE NA 1 3.282 . missense_variant&splice_region_variant MODERATE PFKFB3 HGNC 8874 ENST00000540253 6/15 1 benign(0.03) NA ATG T,C 8.236e-06 10:6217190 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 missense_variant 0.870459 0.96037 0.914 0.706548 0.6219713 0 0.04893181 FALSE 4.06164e-06 ENSE00001650689_031 ENSE00001650689 031 10 6259036 6259205 + 62 57 51 C A 6259173 272 138 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCACGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217209 6217210 6217210 downstr_intron 19 1.38 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCACGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant 31 83 0.85 0.85 0.85 29 258 0.8023595 0.7956201 0.7989898 NA NA 0.9615712 0.9646047 NA NA -0.1592117 -0.1689846 NA 0.963088 NA -0.1640981 NA FALSE NA 0 0.244 . intron_variant MODIFIER PFKFB3 HGNC 8874 ENST00000540253 6/14 rs372302650 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0005 CCC C,A 0.0004283 10:6217210 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant 0.230595 0.32548 0.37218 0.099367 0.6183487 0.0502369 0.04893181 FALSE 0.000410389 ENSE00001650689_032 ENSE00001650689 032 10 6259036 6259205 + 62 57 51 C T 6259174 273 139 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCTGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217210 6217211 6217211 downstr_intron 20 1.4 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCTGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 77 34 0.9130685 0.9454218 0.9292451 NA NA 0.9615712 0.9646047 NA NA -0.04850278 -0.01918293 NA 0.963088 NA -0.03384286 NA FALSE NA 0 -1.951 . intron_variant MODIFIER PFKFB3 HGNC 8874 ENST00000540253 6/14 rs201986131 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0002 T:0.0001 CCG C,T 5.765e-05 10:6217211 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant 0.087892 0.24221 0.05752 0.099367 0.6365655 0.0510148 0.04893181 FALSE 7.721e-05 ENSE00001650689_033 ENSE00001650689 033 10 6259036 6259205 + 62 57 51 C T 6259178 274 143 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGTTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217214 6217215 6217215 downstr_intron 24 1.48 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGTTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 171 441 0.9997591 0.9967417 0.9982504 NA NA 0.9615712 0.9646047 NA NA 0.03818785 0.03213705 NA 0.963088 NA 0.03516245 NA FALSE NA 0 -0.293 . intron_variant MODIFIER PFKFB3 HGNC 8874 ENST00000540253 6/14 1 NA GCT C,T 0.0003047 10:6217215 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant 0.306745 0.27684 0.11956 0.099367 0.7267461 0.0510148 0.04893181 FALSE 0.000243835 ENSE00001650689_034 ENSE00001650689 034 10 6259036 6259205 + 62 57 51 C T 6259184 275 149 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGTGGCAGCGTAGACCACAAGGGC 6217072 6217242 6217220 6217221 6217221 downstr_intron 30 1.6 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGTGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 828 366 0.9733546 0.9624141 0.9678843 NA NA 0.9615712 0.9646047 NA NA 0.01178337 -0.0021906 NA 0.963088 NA 0.004796383 NA FALSE NA 0 -3.535 . intron_variant MODIFIER PFKFB3 HGNC 8874 ENST00000540253 6/14 rs369747428 1 NA T:0.0002 T:0 GCG C,T 2.471e-05 10:6217221 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant -0.329959 0.11566 0.02533 0.099367 0.7626831 0.0502369 0.04893181 FALSE 2.84502e-05 ENSE00001650689_035 ENSE00001650689 035 10 6259036 6259205 + 62 57 51 G A 6259185 276 150 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCAGCAGCGTAGACCACAAGGGC 6217072 6217242 6217221 6217222 6217222 downstr_intron 31 1.62 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCAGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 62 996 0.9986649 0.9972006 0.9979327 NA NA 0.9615712 0.9646047 NA NA 0.03709362 0.03259589 NA 0.963088 NA 0.03484475 NA FALSE NA 0 -3.631 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:6217222 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant -0.105728 0.16918 0.03476 0.099367 0.7657057 0.0502369 0.04893181 FALSE 1.62549e-05 ENSE00001650689_036 ENSE00001650689 036 10 6259036 6259205 + 62 57 51 G T 6259185 277 150 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCTGCAGCGTAGACCACAAGGGC 6217072 6217242 6217221 6217222 6217222 downstr_intron 31 1.62 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCTGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 375 35 0.9646887 0.9486538 0.9566713 NA NA 0.9615712 0.9646047 NA NA 0.003117441 -0.01595085 NA 0.963088 NA -0.006416707 NA FALSE NA 0 -3.631 NA NA NA PFKFB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PFKFB3 NA NA NA ENSG00000170525 ENSE00001650689 intron_variant -0.276919 0.17152 0.03554 0.099367 0.6251777 0.0502369 0.04893181 FALSE 8.12744e-06 ENSE00001650689_037 ENSE00001650689 037 10 6259036 6259205 + 62 57 51 C G 6259190 278 155 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGGGTAGACCACAAGGGC 6217072 6217242 6217226 6217227 6217227 downstr_intron 36 1.72 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGGGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 191 168 0.9374949 0.9412023 0.9393486 NA NA 0.9615712 0.9646047 NA NA -0.02407634 -0.02340242 NA 0.963088 NA -0.02373938 NA FALSE NA 0 -0.201 . intron_variant MODIFIER PFKFB3 HGNC 8874 ENST00000540253 6/14 rs201712189 1 G:0.0004 G:0 G:0.0029 NA G:0 G:0 G:0 GCG C,G 4.118e-05 10:6217227 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant -0.100713 0.31442 0.19103 0.156188 0.4501174 0.0502369 0.04893181 FALSE 2.43944e-05 ENSE00001650689_039 ENSE00001650689 039 10 6259036 6259205 + 62 57 51 A G 6259193 280 158 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTGGACCACAAGGGC 6217072 6217242 6217229 6217230 6217230 downstr_intron 39 1.78 TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTGGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC mutant NA NA NA NA NA 605 170 0.9934971 0.986393 0.9899451 NA NA 0.9615712 0.9646047 NA NA 0.03192586 0.02178833 NA 0.963088 NA 0.02685709 NA FALSE NA 0 0.585 . intron_variant MODIFIER PFKFB3 HGNC 8874 ENST00000540253 6/14 1 NA TAG A,G 1.647e-05 10:6217230 PFKFB3 HGNC Symbol protein_coding 109710 ENSG00000170525 ENSE00001650689 intron_variant 0.118989 0.24303 0.11435 0.156188 0.1980808 0.0502369 0.04893181 FALSE 3.65916e-05 ENSE00001650689_BRK ENSE00001650689 BRK 10 6259036 6259205 + 62 57 51 A,G; T,T NA NA NA TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCTTGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGCCAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC 6217072 6217242 NA NA NA NA NA NA TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCTTGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGCCAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC TGATGGCAAGGTTGATCCTTCGTGGTGTTTGTTTTCTAACATCCCCACCTCACTTCCACCAGGCGTTTTTCATCGAGTCGGTGTGCGACGACCCTACAGTTGTGGCCTCCAATATCATGGTAAGACAGCCGGGAGCCCCGTGCTTCTGCGGCAGCGTAGACCACAAGGGC control NA NA NA NA NA 137 192 0 0.1659962 0.08299811 NA NA 0.9615712 0.9646047 NA NA -0.9615712 -0.7986085 NA 0.963088 NA -0.8800898 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001650689 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001650838_000 ENSE00001650838 000 10 61973140 61973309 - 30 99 41 NA NA NA NA NA TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 NA NA NA NA NA NA TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG natural 13 15 1 0.9996398 0.9998199 3772 3821 0.9638776 0.9250461 0.9444619 1 0.9996398 0.9638776 0.9250461 0 0 0 0 0.9998199 0.9444619 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00002442133 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001650838_001 ENSE00001650838 001 10 61973140 61973309 - 30 99 41 C A 61973154 1046 156 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGTTTTCTGGACATTGG 60213381 60213551 60213395 60213396 60213396 downstr_intron 16 1.551724 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGTTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 724 2590 0.977004 0.9903655 0.9836847 1 0.9996398 0.9638776 0.9250461 NA NA 0.01312636 0.06531934 0.9998199 0.9444619 NA 0.03922285 NA FALSE NA 0 -0.797 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:60213396 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 intron_variant 0.684691 0.23419 0.04439 0.053691 0.5875072 0.0368695 1 TRUE 0 ENSE00001650838_002 ENSE00001650838 002 10 61973140 61973309 - 30 99 41 C T 61973154 1047 156 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGATTTCTGGACATTGG 60213381 60213551 60213395 60213396 60213396 downstr_intron 16 1.551724 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGATTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 1612 1365 0.9482185 0.9982049 0.9732117 1 0.9996398 0.9638776 0.9250461 NA NA -0.01565915 0.0731588 0.9998199 0.9444619 NA 0.02874982 NA FALSE NA 0 -0.797 NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00002442133 intron_variant 0.518868 0.19412 0.01793 0.053691 0.6326003 0.0368695 1 TRUE 4.12872e-06 ENSE00001650838_003 ENSE00001650838 003 10 61973140 61973309 - 30 99 41 G A 61973157 1048 153 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTTAGGTTTCTGGACATTGG 60213381 60213551 60213398 60213399 60213399 downstr_intron 13 1.448276 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTTAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 1600 2608 1 0.9298866 0.9649433 1 0.9996398 0.9638776 0.9250461 NA NA 0.03612235 0.004840517 0.9998199 0.9444619 NA 0.02048144 NA FALSE NA 0 0.014 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 10/43 1 NA TGA G,A 3.295e-05 10:60213399 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 intron_variant 0.789542 0.26239 0.03744 0.053691 0.6345681 0.0368695 1 TRUE 2.47437e-05 ENSE00001650838_005 ENSE00001650838 005 10 61973140 61973309 - 30 99 41 G A 61973162 1050 148 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTTTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213403 60213404 60213404 downstr_intron 8 1.275862 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTTTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 3127 406 0.9976446 0.9860444 0.9918445 1 0.9996398 0.9638776 0.9250461 NA NA 0.03376692 0.06099831 0.9998199 0.9444619 NA 0.04738261 NA FALSE NA 0.256 1.199 . splice_region_variant&intron_variant LOW ANK3 HGNC 494 ENST00000373827 10/43 1 NA AGA G,A 8.238e-06 10:60213404 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 splice_region_variant 1.091621 0.37948 0.27699 0.053691 0.5876225 0.0431951 1 TRUE 4.11872e-06 ENSE00001650838_006 ENSE00001650838 006 10 61973140 61973309 - 30 99 41 C T 61973224 1051 86 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAACAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213465 60213466 60213466 exon 45 0.4545455 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAACAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 1915 1020 0.9950009 0.9021581 0.9485795 1 0.9996398 0.9638776 0.9250461 NA NA 0.0311233 -0.022888 0.9998199 0.9444619 NA 0.004117648 NA FALSE NA 0.905 0.12 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 10/44 rs201414456 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCT C,T 8.238e-06 10:60213466 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 synonymous_variant 1.947802 0.98523 0.77645 0.706298 0.6369466 0 1 TRUE 4.08727e-06 ENSE00001650838_007 ENSE00001650838 007 10 61973140 61973309 - 30 99 41 G A 61973227 1052 83 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCATGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213468 60213469 60213469 exon 42 0.4242424 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCATGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 83 783 1 1 1 1 0.9996398 0.9638776 0.9250461 NA NA 0.03612235 0.07495389 0.9998199 0.9444619 NA 0.05553812 NA FALSE NA 0.994 0.714 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:60213469 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 synonymous_variant 1.018316 0.92685 0.4022 0.706298 0.6623566 0 1 TRUE 6.53937e-05 ENSE00001650838_008 ENSE00001650838 008 10 61973140 61973309 - 30 99 41 G T 61973227 1053 83 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCAAGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213468 60213469 60213469 exon 42 0.4242424 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCAAGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 512 786 0.9999196 1 0.9999598 1 0.9996398 0.9638776 0.9250461 NA NA 0.03604195 0.07495389 0.9998199 0.9444619 NA 0.05549792 NA FALSE NA 0.994 0.714 NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00002442133 missense_variant 4.358756 0.9438 0.79786 0.706298 0.9867686 0 1 TRUE 1.22613e-05 ENSE00001650838_009 ENSE00001650838 009 10 61973140 61973309 - 30 99 41 C T 61973232 1054 78 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTAGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213473 60213474 60213474 exon 37 0.3737374 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTAGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 124 9656 0.9836492 0.9307449 0.9571971 1 0.9996398 0.9638776 0.9250461 NA NA 0.01977154 0.00569882 0.9998199 0.9444619 NA 0.01273518 NA FALSE NA 1 7.653 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 10/44 1 deleterious_low_confidence(0) benign(0.002) NA CCA C,T 8.238e-06 10:60213474 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 missense_variant 6.970207 0.99412 0.98207 0.706298 0.9988592 0 1 TRUE 4.08807e-06 ENSE00001650838_010 ENSE00001650838 010 10 61973140 61973309 - 30 99 41 C A 61973241 1055 69 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGATCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213482 60213483 60213483 exon 28 0.2828283 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGATCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 370 43 1 1 1 1 0.9996398 0.9638776 0.9250461 NA NA 0.03612235 0.07495389 0.9998199 0.9444619 NA 0.05553812 NA FALSE NA 1 7.653 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 10/44 1 tolerated_low_confidence(0.06) benign(0.01) NA GCT C,A 8.238e-06 10:60213483 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 missense_variant 5.831803 0.99668 0.98872 0.706298 0.9973565 0 1 TRUE 4.09095e-06 ENSE00001650838_011 ENSE00001650838 011 10 61973140 61973309 - 30 99 41 T G 61973257 1056 53 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACCCCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213498 60213499 60213499 exon 12 0.1212121 TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACCCCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 171 2738 0.9858448 0.9180499 0.9519473 1 0.9996398 0.9638776 0.9250461 NA NA 0.02196713 -0.006996217 0.9998199 0.9444619 NA 0.007485455 NA FALSE NA 0 -6.327 rs73269474 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 10/44 rs73269474 1 G:0.0284 G:0.0991 G:0.0159 NA G:0 G:0 G:0 G:0.0908 G:0.0013 GTG T,G 0.009837 10:60213499 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 synonymous_variant 0.703021 0.15857 0.02258 0.706298 0.5552492 0 1 TRUE 0.00850641 ENSE00001650838_013 ENSE00001650838 013 10 61973140 61973309 - 30 99 41 G A 61973281 1058 29 TATTGTCAAATTTAATTGGTGATGTTTCTTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213522 60213523 60213523 upstr_intron -13 -0.2926829 TATTGTCAAATTTAATTGGTGATGTTTCTTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 1198 1237 0.9589043 1 0.9794521 1 0.9996398 0.9638776 0.9250461 NA NA -0.004973361 0.07495389 0.9998199 0.9444619 NA 0.03499026 NA FALSE NA 0.992 2.337 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 9/43 rs368836380 1 A:0.0010 A:0 A:0 NA A:0.005 A:0 A:0 AGG G,A 0.0002225 10:60213523 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 intron_variant 0.250156 0.2848 0.13898 0.053691 0.4902346 0.138524 1 TRUE 0.000226831 ENSE00001650838_015 ENSE00001650838 015 10 61973140 61973309 - 30 99 41 C T 61973291 1060 19 TATTGTCAAATTTAATTGATGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213532 60213533 60213533 upstr_intron -23 -0.5365854 TATTGTCAAATTTAATTGATGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant NA NA NA NA NA 1203 2547 0.976342 0.9983426 0.9873423 1 0.9996398 0.9638776 0.9250461 NA NA 0.01246435 0.07329647 0.9998199 0.9444619 NA 0.04288041 NA FALSE NA 0 -0.768 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 9/43 1 NA ACC C,T 5.77e-05 10:60213533 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 intron_variant 0.119502 0.11889 0.00435 0.053691 0.5069261 0.0811687 1 TRUE 4.91199e-05 ENSE00001650838_016 ENSE00001650838 016 10 61973140 61973309 - 30 99 41 C T 61973292 1061 18 TATTGTCAAATTTAATTAGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 60213533 60213534 60213534 upstr_intron -24 -0.5609756 TATTGTCAAATTTAATTAGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG mutant 16 14 0.9981526 1 0.9990763 729 388 0.996407 0.9712276 0.9838173 1 0.9996398 0.9638776 0.9250461 -0.001847442 0.0003602423 0.03252932 0.04618148 0.9998199 0.9444619 -0.0007435999 0.0393554 0.040099 FALSE FALSE 0 -0.935 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 9/43 1 NA CCA C,T 1.648e-05 10:60213534 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002442133 intron_variant 0.255844 0.18312 0.02864 0.053691 0.6116009 0.0801492 1 TRUE 1.79038e-05 ENSE00001650838_BRK ENSE00001650838 BRK 10 61973140 61973309 - 30 99 41 A,G; T,T NA NA NA TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACTTGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGCCAATTTCTTTTCAGGTTTCTGGACATTGG 60213381 60213551 NA NA NA NA NA NA TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACTTGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGCCAATTTCTTTTCAGGTTTCTGGACATTGG TATTGTCAAATTTAATTGGTGATGTTTCCTTTGTTCAACAGGATGGTCTGACACCACTGCACTGTGGAGCAAGGAGTGGCCACGAGCAGGTGGTAGAAATGTTGCTTGATCGAGCTGCCCCCATTCTTTCAAAAACCAAGGTAATTTCTTTTCAGGTTTCTGGACATTGG control NA NA NA NA NA 564 1337 0 0.02503421 0.0125171 1 0.9996398 0.9638776 0.9250461 NA NA -0.9638776 -0.9000119 0.9998199 0.9444619 NA -0.9319448 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00002442133 NA NA NA NA NA NA NA NA NA NA ENSE00001650929_000 ENSE00001650929 000 9 116999879 117000048 + 63 54 53 NA NA NA NA NA CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 NA NA NA NA NA NA CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT natural 51 98 0.9670473 0.9320588 0.949553 325 634 0.9960072 0.962355 0.9791811 0.9670473 0.9320588 0.9960072 0.962355 0 0 0 0 0.949553 0.9791811 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003531080 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001650929_001 ENSE00001650929 001 9 116999879 117000048 + 63 54 53 A G 116999894 1795 16 CAGGGGGTTCATGGAGGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237613 114237614 114237614 upstr_intron -48 -0.7460317 CAGGGGGTTCATGGAGGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 20 2391 1 0.9959575 0.9979788 0.9670473 0.9320588 0.9960072 0.962355 NA NA 0.003992772 0.03360251 0.949553 0.9791811 NA 0.01879764 NA FALSE NA 0.006 1.123 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 15/57 rs557964339 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAG A,G 8.236e-06 9:114237614 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.762387 0.43512 0.29595 0.053691 0.816617 0.490576 0.9999994 TRUE 4.06865e-06 ENSE00001650929_004 ENSE00001650929 004 9 116999879 117000048 + 63 54 53 G A 116999901 1798 23 CAGGGGGTTCATGGAAGGTGGGATCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237620 114237621 114237621 upstr_intron -41 -0.6349206 CAGGGGGTTCATGGAAGGTGGGATCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 74 205 0.9960409 0.9994411 0.997741 0.9670473 0.9320588 0.9960072 0.962355 NA NA 3.363296e-05 0.03708612 0.949553 0.9791811 NA 0.01855988 NA FALSE NA 0 -0.094 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114237621 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.008114 0.16758 0.07611 0.053691 0.8289601 0.0455939 0.9999994 TRUE 0.00035365 ENSE00001650929_006 ENSE00001650929 006 9 116999879 117000048 + 63 54 53 T C 116999902 1800 24 CAGGGGGTTCATGGAAGGTGGGGCCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237621 114237622 114237622 upstr_intron -40 -0.6190476 CAGGGGGTTCATGGAAGGTGGGGCCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 312 218 1 0.9879848 0.9939924 0.9670473 0.9320588 0.9960072 0.962355 NA NA 0.003992772 0.02562983 0.949553 0.9791811 NA 0.0148113 NA FALSE NA 0 -1.552 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 15/57 1 NA GTC C,C 8.236e-06 9:114237622 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.232676 0.07595 0.00118 0.053691 0.5872587 0.0455939 0.9999994 TRUE 4.06577e-06 ENSE00001650929_007 ENSE00001650929 007 9 116999879 117000048 + 63 54 53 C T 116999908 1801 30 CAGGGGGTTCATGGAAGGTGGGGTCCTCATCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237627 114237628 114237628 upstr_intron -34 -0.5238095 CAGGGGGTTCATGGAAGGTGGGGTCCTCATCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 236 29 0.9978885 0.9973314 0.99761 0.9670473 0.9320588 0.9960072 0.962355 NA NA 0.001881237 0.03497644 0.949553 0.9791811 NA 0.01842884 NA FALSE NA 0 0.013 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 15/57 1 NA ACC C,T 8.236e-06 9:114237628 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.199626 0.15425 0.03727 0.053691 0.8211163 0.0455939 0.9999994 TRUE 4.06326e-06 ENSE00001650929_008 ENSE00001650929 008 9 116999879 117000048 + 63 54 53 C T 116999909 1802 31 CAGGGGGTTCATGGAAGGTGGGGTCCTCACTCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237628 114237629 114237629 upstr_intron -33 -0.5079365 CAGGGGGTTCATGGAAGGTGGGGTCCTCACTCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 299 41 0.9969321 0.95 0.973466 0.9670473 0.9320588 0.9960072 0.962355 NA NA 0.0009248338 -0.012355 0.949553 0.9791811 NA -0.005715084 NA FALSE NA 0 0.155 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 15/57 1 NA CCC C,T 8.236e-06 9:114237629 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.329236 0.15852 0.0012 0.053691 0.683119 0.0455939 0.9999994 TRUE 1.62512e-05 ENSE00001650929_009 ENSE00001650929 009 9 116999879 117000048 + 63 54 53 A G 116999924 1803 46 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAGCCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237643 114237644 114237644 upstr_intron -18 -0.2698413 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAGCCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 278 263 0.7647677 0.9594334 0.8621006 0.9670473 0.9320588 0.9960072 0.962355 NA NA -0.2312395 -0.002921591 0.949553 0.9791811 NA -0.1170805 NA FALSE NA 0.001 1.161 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 15/57 rs370790433 1 NA G:0.0002 G:0 AAC A,G 3.295e-05 9:114237644 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.363579 0.16548 0.14868 0.078448 0.6010688 0.0455939 0.9999994 TRUE 1.21841e-05 ENSE00001650929_011 ENSE00001650929 011 9 116999879 117000048 + 63 54 53 A G 116999958 1805 80 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAGAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237677 114237678 114237678 exon 17 0.3148148 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAGAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 93 250 0.9964052 0.997212 0.9968086 0.9670473 0.9320588 0.9960072 0.962355 NA NA 0.0003979946 0.03485697 0.949553 0.9791811 NA 0.01762748 NA FALSE NA 1 3.099 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 16/58 1 NA AAA A,G 8.236e-06 9:114237678 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 missense_variant 2.911666 0.98372 0.92634 0.706298 0.971959 0 0.9999994 TRUE 8.12176e-06 ENSE00001650929_016 ENSE00001650929 016 9 116999879 117000048 + 63 54 53 A C 116999989 1810 111 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGCCCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237708 114237709 114237709 exon -7 0.8888889 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGCCCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 1109 190 0.8980177 0.9102095 0.9041136 0.9670473 0.9320588 0.9960072 0.962355 NA NA -0.09798953 -0.05214547 0.949553 0.9791811 NA -0.0750675 NA FALSE NA 0.201 -0.795 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 16/58 1 NA GAC A,C 8.236e-06 9:114237709 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 synonymous_variant 0.560036 0.84946 0.07759 0.706298 0.7689778 0 0.9999994 TRUE 4.06118e-06 ENSE00001650929_018 ENSE00001650929 018 9 116999879 117000048 + 63 54 53 A T 117000010 1812 132 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCTTTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237729 114237730 114237730 downstr_intron 15 1.288462 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCTTTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 258 395 0.99807 0.9695076 0.9837888 0.9670473 0.9320588 0.9960072 0.962355 NA NA 0.002062785 0.007152632 0.949553 0.9791811 NA 0.004607709 NA FALSE NA 0 0.175 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 16/57 1 NA CAT A,T 8.236e-06 9:114237730 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.757721 0.14287 0.04683 0.078448 0.7074714 0.194343 0.9999994 TRUE 4.06237e-06 ENSE00001650929_019 ENSE00001650929 019 9 116999879 117000048 + 63 54 53 C T 117000017 1813 139 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCTGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 114237736 114237737 114237737 downstr_intron 22 1.423077 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCTGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 265 86 0.8603846 0.9753125 0.9178486 0.9670473 0.9320588 0.9960072 0.962355 NA NA -0.1356226 0.01295751 0.949553 0.9791811 NA -0.06133254 NA FALSE NA 0 0.084 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 16/57 1 NA CCG C,T 2.471e-05 9:114237737 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.300856 0.0598 0.00015 0.078448 0.8204534 0.0840473 0.9999994 TRUE 2.84493e-05 ENSE00001650929_022 ENSE00001650929 022 9 116999879 117000048 + 63 54 53 G A 117000036 1816 158 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGAACTCGGTCTTGT 114237598 114237768 114237755 114237756 114237756 downstr_intron 41 1.788462 CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGAACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT mutant NA NA NA NA NA 197 28 0.9840966 1 0.9920483 0.9670473 0.9320588 0.9960072 0.962355 NA NA -0.01191066 0.037645 0.949553 0.9791811 NA 0.01286717 NA FALSE NA 0.009 1.703 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114237756 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003531080 intron_variant 0.943072 0.15791 0.12783 0.053691 0.8188537 0.0448725 0.9999994 TRUE 8.15375e-06 ENSE00001650929_BRK ENSE00001650929 BRK 9 116999879 117000048 + 63 54 53 A,G; T,T NA NA NA CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACTTGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGCCATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT 114237598 114237768 NA NA NA NA NA NA CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACTTGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGCCATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT CAGGGGGTTCATGGAAGGTGGGGTCCTCACCCCTGCCTCCCTGCAACCTCTTCTCTTCCACAGGGCAAAGTCGGAGACAAAGGATCCATTGGGTTTCCCGGGCCCCCTGGACCCGAGGTATGTGATGCCCCATTTCTCCGTGTCTGGCTGCTGCTGGGACTCGGTCTTGT control NA NA NA NA NA 124 203 0.04207767 0 0.02103884 0.9670473 0.9320588 0.9960072 0.962355 NA NA -0.9539296 -0.962355 0.949553 0.9791811 NA -0.9581423 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003531080 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001650977_000 ENSE00001650977 000 16 19644364 19644533 + 50 81 39 NA NA NA NA NA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 NA NA NA NA NA NA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA natural 20 26 1 0.9959702 0.9979851 2541 2439 0.9422442 0.8023813 0.8723128 1 0.9959702 0.9422442 0.8023813 0 0 0 0 0.9979851 0.8723128 0 0 0 FALSE FALSE NA NA NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35L NA NA NA ENSG00000103544 ENSE00001650977 NA NA NA NA NA NA NA NA NA NA ENSE00001650977_001 ENSE00001650977 001 16 19644364 19644533 + 50 81 39 A T 19644374 1161 11 CAGTTGCCATTCAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633051 19633052 19633052 upstr_intron -40 -0.78 CAGTTGCCATTCAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant 31 13 1 0.9969055 0.9984527 15 27 0.8479421 0.9940968 0.9210194 1 0.9959702 0.9422442 0.8023813 0 0.0009352793 -0.09430213 0.1917154 0.9979851 0.8723128 0.0004676396 0.04870666 0.04823902 FALSE FALSE 0 -0.836 . intron_variant MODIFIER C16orf62 HGNC 24641 ENST00000417362 16/27 1 NA TAC A,T 8.236e-06 16:19633052 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 intron_variant 0.067046 0.10411 0.00265 0.099367 0.7450666 0.0549589 NA NA 4.06994e-06 ENSE00001650977_002 ENSE00001650977 002 16 19644364 19644533 + 50 81 39 G C 19644377 1162 14 CAGTTGCCATACACTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633054 19633055 19633055 upstr_intron -37 -0.72 CAGTTGCCATACACTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 460 1291 0.9993721 1 0.999686 1 0.9959702 0.9422442 0.8023813 NA NA 0.05712786 0.1976187 0.9979851 0.8723128 NA 0.1273733 NA FALSE NA 0 1.965 NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:19633055 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 intron_variant 0.045438 0.24661 0.24154 0.099367 0.556013 0.0549589 NA NA 1.62741e-05 ENSE00001650977_004 ENSE00001650977 004 16 19644364 19644533 + 50 81 39 T C 19644380 1164 17 CAGTTGCCATACAGTGCCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633057 19633058 19633058 upstr_intron -34 -0.66 CAGTTGCCATACAGTGCCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 160 45 1 1 1 1 0.9959702 0.9422442 0.8023813 NA NA 0.05775579 0.1976187 0.9979851 0.8723128 NA 0.1276872 NA FALSE NA 0 -0.243 . intron_variant MODIFIER C16orf62 HGNC 24641 ENST00000417362 16/27 1 NA GTC T,C 8.236e-06 16:19633058 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 intron_variant 0.317245 0.3395 0.03842 0.099367 0.632471 0.0544739 NA NA NA ENSE00001650977_007 ENSE00001650977 007 16 19644364 19644533 + 50 81 39 C T 19644405 1167 42 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTTCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633082 19633083 19633083 upstr_intron -9 -0.16 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTTCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 1233 27 0.9592274 1 0.9796137 1 0.9959702 0.9422442 0.8023813 NA NA 0.01698315 0.1976187 0.9979851 0.8723128 NA 0.1073009 NA FALSE NA 0.001 0.774 . intron_variant MODIFIER C16orf62 HGNC 24641 ENST00000417362 16/27 rs572000185 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCC C,T 8.236e-06 16:19633083 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 intron_variant 0.263739 0.23993 0.20804 0.156188 0.6223571 0.120271 NA NA NA ENSE00001650977_009 ENSE00001650977 009 16 19644364 19644533 + 50 81 39 T G 19644410 1169 47 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCGTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633087 19633088 19633088 upstr_intron -4 -0.06 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCGTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant 16 24 1 1 1 NA NA NA NA NA 1 0.9959702 0.9422442 0.8023813 0 0.004029802 NA NA 0.9979851 0.8723128 0.002014901 NA NA NA FALSE 0 -0.885 . splice_region_variant&intron_variant LOW C16orf62 HGNC 24641 ENST00000417362 16/27 1 NA CTT T,G 8.236e-06 16:19633088 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 splice_region_variant 0.61699 0.18797 0.06771 0.295142 0.4599238 0.261858 NA NA 4.06151e-06 ENSE00001650977_010 ENSE00001650977 010 16 19644364 19644533 + 50 81 39 G A 19644432 1170 69 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCATTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633109 19633110 19633110 exon 19 0.2345679 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCATTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 203 27 1 1 1 1 0.9959702 0.9422442 0.8023813 NA NA 0.05775579 0.1976187 0.9979851 0.8723128 NA 0.1276872 NA FALSE NA 1 3.731 . missense_variant MODERATE C16orf62 HGNC 24641 ENST00000417362 17/28 1 benign(0.008) NA CGT G,A 8.236e-06 16:19633110 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 missense_variant 2.985487 0.98932 0.94059 0.732398 0.9891683 0 NA NA 4.06091e-06 ENSE00001650977_014 ENSE00001650977 014 16 19644364 19644533 + 50 81 39 C G 19644460 1174 97 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGAGTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633137 19633138 19633138 exon -35 0.5802469 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGAGTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 1742 492 0.99828 0.9871291 0.9927045 1 0.9959702 0.9422442 0.8023813 NA NA 0.05603576 0.1847478 0.9979851 0.8723128 NA 0.1203918 NA FALSE NA 1 5.63 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:19633138 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 missense_variant 2.967448 0.99287 0.97947 0.744818 0.9962313 0 NA NA 4.06091e-06 ENSE00001650977_015 ENSE00001650977 015 16 19644364 19644533 + 50 81 39 C T 19644460 1175 97 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGATTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633137 19633138 19633138 exon -35 0.5802469 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGATTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 29 379 1 0.8806557 0.9403279 1 0.9959702 0.9422442 0.8023813 NA NA 0.05775579 0.07827436 0.9979851 0.8723128 NA 0.06801508 NA FALSE NA 1 5.63 NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35L NA NA NA ENSG00000103544 ENSE00001650977 missense_variant 3.773013 0.99252 0.97255 0.744818 0.9991239 0 NA NA 2.84264e-05 ENSE00001650977_016 ENSE00001650977 016 16 19644364 19644533 + 50 81 39 G A 19644469 1176 106 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCATGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633146 19633147 19633147 exon -26 0.691358 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCATGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 59 112 1 0.9996595 0.9998297 1 0.9959702 0.9422442 0.8023813 NA NA 0.05775579 0.1972781 0.9979851 0.8723128 NA 0.127517 NA FALSE NA 1 7.477 rs139805019 missense_variant MODERATE C16orf62 HGNC 24641 ENST00000417362 17/28 rs139805019 1 possibly_damaging(0.741) NA A:0 A:0.0001 CGT G,A 2.471e-05 16:19633147 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 missense_variant 7.828333 0.99262 0.97967 0.744818 0.9994606 0 NA NA 3.24913e-05 ENSE00001650977_021 ENSE00001650977 021 16 19644364 19644533 + 50 81 39 C T 19644490 1181 127 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCTCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633167 19633168 19633168 exon -5 0.9506173 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCTCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 18 546 1 0.9999303 0.9999651 1 0.9959702 0.9422442 0.8023813 NA NA 0.05775579 0.1975489 0.9979851 0.8723128 NA 0.1276524 NA FALSE NA 1 5.53 rs143313550 missense_variant MODERATE C16orf62 HGNC 24641 ENST00000417362 17/28 rs143313550 1 benign(0.059) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 CCC C,T 5.765e-05 16:19633168 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 missense_variant 5.859267 0.99224 0.96981 0.732398 0.998519 0 NA NA 4.4673e-05 ENSE00001650977_023 ENSE00001650977 023 16 19644364 19644533 + 50 81 39 C T 19644507 1183 144 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGTATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 19633184 19633185 19633185 downstr_intron 13 1.342105 CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGTATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA mutant NA NA NA NA NA 93 680 1 1 1 1 0.9959702 0.9422442 0.8023813 NA NA 0.05775579 0.1976187 0.9979851 0.8723128 NA 0.1276872 NA FALSE NA 0 -0.276 . intron_variant MODIFIER C16orf62 HGNC 24641 ENST00000417362 17/27 1 NA GCA C,T 8.236e-06 16:19633185 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00001650977 intron_variant 2.342411 0.27511 0.0252 0.088506 0.8128915 0.246227 NA NA 4.06174e-06 ENSE00001650977_BRK ENSE00001650977 BRK 16 19644364 19644533 + 50 81 39 A,G; T,T NA NA NA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTTTAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGCCAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA 19633041 19633211 NA NA NA NA NA NA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTTTAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGCCAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA CAGTTGCCATACAGTGTCTAATTCAGGTTTGGTTCCTTTTTCCTGCTTAGAAACGAGAGGTGAATACCGTTTTGGCAGATGTCATCAAGCACATGACTCCAGATCGTGCATTTGAAGATTCCTACCCCCAGGTAACAGATTTGCATTTCTCATTTCAACATTGTTAGGAA control 28 15 0 0 0 341 77 0 0 0 1 0.9959702 0.9422442 0.8023813 -1 -0.9959702 -0.9422442 -0.8023813 0.9979851 0.8723128 -0.9979851 -0.8723128 0.1256723 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35L NA NA NA ENSG00000103544 ENSE00001650977 NA NA NA NA NA NA NA NA NA NA ENSE00001651121_000 ENSE00001651121 000 1 21562302 21562471 - 41 78 51 NA NA NA NA NA TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 NA NA NA NA NA NA TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC natural 33 52 0.9986185 0.9973452 0.9979818 386 995 0.9893552 0.9974657 0.9934105 0.9986185 0.9973452 0.9893552 0.9974657 0 0 0 0 0.9979818 0.9934105 0 0 0 FALSE FALSE NA NA NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003662858 NA NA NA NA NA NA NA 0.9997686 TRUE NA ENSE00001651121_002 ENSE00001651121 002 1 21562302 21562471 - 41 78 51 G A 21562319 603 153 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCTTTGCGTTCCTAAATGCC 21235808 21235978 21235825 21235826 21235826 downstr_intron 24 1.6 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCTTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 734 536 0.9967597 0.9638259 0.9802928 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.00740441 -0.03363986 0.9979818 0.9934105 NA -0.01311773 NA FALSE NA 0 -1.255 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 12/17 1 NA AGG G,A 2.471e-05 1:21235826 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 intron_variant 0.252008 0.20332 0.0331 0.156188 0.6068942 0.0641646 0.9997686 TRUE 1.21831e-05 ENSE00001651121_003 ENSE00001651121 003 1 21562302 21562471 - 41 78 51 G A 21562323 604 149 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGTCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235829 21235830 21235830 downstr_intron 20 1.5 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGTCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 694 654 0.9995842 0.9928082 0.9961962 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.01022893 -0.004657559 0.9979818 0.9934105 NA 0.002785683 NA FALSE NA 0.019 0.031 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 12/17 1 NA GGC G,A 8.236e-06 1:21235830 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 intron_variant 0.25186 0.28203 0.06154 0.156188 0.5056195 0.0641646 0.9997686 TRUE 4.06098e-06 ENSE00001651121_004 ENSE00001651121 004 1 21562302 21562471 - 41 78 51 C T 21562332 605 140 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTACTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235838 21235839 21235839 downstr_intron 11 1.275 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTACTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 662 743 0.8466583 1 0.9233292 0.9986185 0.9973452 0.9893552 0.9974657 NA NA -0.1426969 0.002534251 0.9979818 0.9934105 NA -0.07008134 NA FALSE NA 0.002 0.037 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 12/17 1 NA GCA C,T 3.295e-05 1:21235839 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 intron_variant 0.388079 0.24102 0.05454 0.156188 0.659364 0.0732011 0.9997686 TRUE 3.6547e-05 ENSE00001651121_005 ENSE00001651121 005 1 21562302 21562471 - 41 78 51 G A 21562343 606 129 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGATGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235849 21235850 21235850 exon -1 1 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGATGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 407 54 1 1 1 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.01064476 0.002534251 0.9979818 0.9934105 NA 0.006589505 NA FALSE NA 0.005 -1.588 rs28368018 splice_region_variant&synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 12/18 rs28368018&COSM4028058&COSM4028059&COSM4028060 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0034 A:0.0003 CGT G,A 0.0004036 1:21235850 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 splice_region_variant 0.127942 0.94829 0.0818 0.706298 0.3639062 0 0.9997686 TRUE 0.000332984 ENSE00001651121_006 ENSE00001651121 006 1 21562302 21562471 - 41 78 51 C T 21562354 607 118 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAATGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235860 21235861 21235861 exon -12 0.8589744 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAATGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 200 807 0.9868018 1 0.9934009 0.9986185 0.9973452 0.9893552 0.9974657 NA NA -0.002553406 0.002534251 0.9979818 0.9934105 NA -9.577529e-06 NA FALSE NA 1 7.433 rs187474823 missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 12/18 rs187474823 1 deleterious(0.04) possibly_damaging(0.872) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0002 ACT C,T 0.0002636 1:21235861 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 missense_variant 6.020509 0.99322 0.98625 0.706298 0.9986945 0 0.9997686 TRUE 0.000170553 ENSE00001651121_008 ENSE00001651121 008 1 21562302 21562471 - 41 78 51 G A 21562363 609 109 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGTTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235869 21235870 21235870 exon -21 0.7435897 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGTTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 354 1068 0.9990662 0.9979459 0.9985061 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.009711007 0.0004801439 0.9979818 0.9934105 NA 0.005095576 NA FALSE NA 1 6.339 rs143819896 synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 12/18 rs143819896 1 NA A:0.0002 A:0.0002 AGC G,A 0.00014 1:21235870 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 synonymous_variant 1.479047 0.98853 0.97653 0.706298 0.7697783 0 0.9997686 TRUE 0.000186797 ENSE00001651121_009 ENSE00001651121 009 1 21562302 21562471 - 41 78 51 T C 21562369 610 103 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCGAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235875 21235876 21235876 exon -27 0.6666667 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCGAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 675 386 1 1 1 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.01064476 0.002534251 0.9979818 0.9934105 NA 0.006589505 NA FALSE NA 1 7.642 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 12/18 1 tolerated(0.27) benign(0.005) NA TTG T,C 5.765e-05 1:21235876 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 missense_variant 2.418006 0.98497 0.97766 0.706298 0.9957793 0 0.9997686 TRUE 6.49709e-05 ENSE00001651121_010 ENSE00001651121 010 1 21562302 21562471 - 41 78 51 G A 21562372 611 100 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATTCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235878 21235879 21235879 exon -30 0.6282051 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATTCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 57 288 1 0.9988018 0.9994009 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.01064476 0.001336037 0.9979818 0.9934105 NA 0.005990397 NA FALSE NA 1 2.757 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 12/18 1 tolerated(0.2) benign(0.021) NA GGA G,A 8.236e-06 1:21235879 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 missense_variant 3.189523 0.98836 0.93561 0.706298 0.9952778 0 0.9997686 TRUE 4.06075e-06 ENSE00001651121_012 ENSE00001651121 012 1 21562302 21562471 - 41 78 51 G A 21562418 613 54 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCTGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235924 21235925 21235925 exon 3 0.03846154 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCTGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 125 48 1 1 1 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.01064476 0.002534251 0.9979818 0.9934105 NA 0.006589505 NA FALSE NA 0 -2.527 . splice_region_variant&synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 12/18 rs374765464 1 NA A:0 A:0.0001 CGG G,A 5.765e-05 1:21235925 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 splice_region_variant 0.509333 0.1707 0.04294 0.706298 0.529957 0 0.9997686 TRUE 5.27979e-05 ENSE00001651121_013 ENSE00001651121 013 1 21562302 21562471 - 41 78 51 A G 21562430 614 42 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGCCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235936 21235937 21235937 upstr_intron -10 -0.1764706 TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGCCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant 18 32 0.85 0.9233564 0.8866782 38 191 1 0.9940043 0.9970022 0.9986185 0.9973452 0.9893552 0.9974657 -0.1486185 -0.07398878 0.01064476 -0.003461434 0.9979818 0.9934105 -0.1113036 0.003591662 0.1148953 FALSE FALSE 0.003 0.292 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 11/17 1 NA GAC A,G 8.236e-06 1:21235937 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 intron_variant 0.401782 0.21765 0.04594 0.099367 0.6568143 0.0606269 0.9997686 TRUE 4.06141e-06 ENSE00001651121_014 ENSE00001651121 014 1 21562302 21562471 - 41 78 51 T A 21562448 615 24 TGGCCTGGTCGATGTTGCCGGGCTCTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235954 21235955 21235955 upstr_intron -28 -0.5294118 TGGCCTGGTCGATGTTGCCGGGCTCTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 140 765 0.9997057 0.9656574 0.9826816 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.01035043 -0.03180831 0.9979818 0.9934105 NA -0.01072894 NA FALSE NA 0 -1.818 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 11/17 rs201958563 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 GTG T,A 2.471e-05 1:21235955 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 intron_variant 0.463356 0.14003 0.00887 0.099367 0.539973 0.046323 0.9997686 TRUE 2.03163e-05 ENSE00001651121_015 ENSE00001651121 015 1 21562302 21562471 - 41 78 51 C T 21562452 616 20 TGGCCTGGTCGATGTTGCCAGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235958 21235959 21235959 upstr_intron -32 -0.6078431 TGGCCTGGTCGATGTTGCCAGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 407 479 0.9980628 0.9970167 0.9975398 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.008707598 -0.0004490104 0.9979818 0.9934105 NA 0.004129294 NA FALSE NA 0 -1.412 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 11/17 rs374838276 1 NA T:0 T:0.0001 CCG C,T 3.295e-05 1:21235959 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 intron_variant -0.179804 0.13472 0.01142 0.062308 0.4306246 0.046323 0.9997686 TRUE 5.28365e-05 ENSE00001651121_016 ENSE00001651121 016 1 21562302 21562471 - 41 78 51 G A 21562453 617 19 TGGCCTGGTCGATGTTGCTGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235959 21235960 21235960 upstr_intron -33 -0.627451 TGGCCTGGTCGATGTTGCTGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 362 14 0.9935883 1 0.9967941 0.9986185 0.9973452 0.9893552 0.9974657 NA NA 0.004233019 0.002534251 0.9979818 0.9934105 NA 0.003383635 NA FALSE NA 0 -2.014 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 11/17 1 NA CGG G,A 1.647e-05 1:21235960 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 intron_variant -0.186221 0.10165 0.00305 0.062308 0.4716126 0.046323 0.9997686 TRUE 2.03231e-05 ENSE00001651121_017 ENSE00001651121 017 1 21562302 21562471 - 41 78 51 C T 21562461 618 11 TGGCCTGGTCAATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 21235967 21235968 21235968 upstr_intron -41 -0.7843137 TGGCCTGGTCAATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC mutant NA NA NA NA NA 264 336 0.9881818 0.999529 0.9938554 0.9986185 0.9973452 0.9893552 0.9974657 NA NA -0.001173481 0.002063269 0.9979818 0.9934105 NA 0.0004448939 NA FALSE NA 0 -2.568 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 11/17 1 NA TCG C,T 6.589e-05 1:21235968 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003662858 intron_variant 0.041172 0.09613 0.00218 0.062308 0.3910137 0.046323 0.9997686 TRUE 4.87904e-05 ENSE00001651121_BRK ENSE00001651121 BRK 1 21562302 21562471 - 41 78 51 A,G; T,T NA NA NA TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCTTGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACCCGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC 21235808 21235978 NA NA NA NA NA NA TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCTTGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACCCGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC TGGCCTGGTCGATGTTGCCGGGCACTCACTTCCTCTGTCTGTCCTGTCCAGGCCGATGCCATCTACAACATGATAGGATACCCCAACTTCATCATGGATCCCAAGGAGCTGGACAAAGTGTTTAATGACGTGAGTAGCTGCTGCCCTGCCCCCTTGCGTTCCTAAATGCC control 11 45 0 0 0 188 100 0 0 0 0.9986185 0.9973452 0.9893552 0.9974657 -0.9986185 -0.9973452 -0.9893552 -0.9974657 0.9979818 0.9934105 -0.9979818 -0.9934105 0.004571345 TRUE TRUE NA NA NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003662858 NA NA NA NA NA NA NA 0.9997686 TRUE NA ENSE00001651331_000 ENSE00001651331 000 7 87778242 87778411 + 50 81 39 NA NA NA NA NA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA 88148926 88149096 NA NA NA NA NA NA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA natural 26 24 1 0.9997805 0.9998903 6196 5488 0.9901404 0.9718552 0.9809978 1 0.9997805 0.9901404 0.9718552 0 0 0 0 0.9998903 0.9809978 0 0 0 FALSE FALSE NA NA NA NA NA ADAM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM22 NA NA NA ENSG00000008277 ENSE00001651331 NA NA NA NA NA NA NA 0.9993889 TRUE NA ENSE00001651331_005 ENSE00001651331 005 7 87778242 87778411 + 50 81 39 G C 87778297 1441 56 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCACCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA 88148926 88149096 88148981 88148982 88148982 exon 6 0.07407407 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCACCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA mutant NA NA NA NA NA 373 397 0.8080101 0.8019074 0.8049588 1 0.9997805 0.9901404 0.9718552 NA NA -0.1821303 -0.1699477 0.9998903 0.9809978 NA -0.176039 NA FALSE NA 1 3.671 . missense_variant MODERATE ADAM22 HGNC 201 ENST00000398209 18/31 1 tolerated(0.05) possibly_damaging(0.673) NA AGC G,C 8.28e-06 7:88148982 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001651331 missense_variant 4.047813 0.97926 0.92706 0.693126 0.9967613 0 0.9993889 TRUE 8.19061e-06 ENSE00001651331_009 ENSE00001651331 009 7 87778242 87778411 + 50 81 39 T G 87778333 1445 92 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGAGTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA 88148926 88149096 88149017 88149018 88149018 exon -40 0.5185185 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGAGTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA mutant NA NA NA NA NA 163 743 0.8077103 0.9967598 0.902235 1 0.9997805 0.9901404 0.9718552 NA NA -0.1824301 0.02490458 0.9998903 0.9809978 NA -0.07876277 NA FALSE NA 0.998 0.754 . missense_variant MODERATE ADAM22 HGNC 201 ENST00000398209 18/31 rs200566855 1 tolerated(0.78) benign(0.035) NA G:0 G:0.0002 ATT T,G 0.0001408 7:88149018 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001651331 missense_variant 1.120578 0.97156 0.85909 0.693126 0.976875 0 0.9993889 TRUE 0.000114153 ENSE00001651331_010 ENSE00001651331 010 7 87778242 87778411 + 50 81 39 A G 87778340 1446 99 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATGTTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA 88148926 88149096 88149024 88149025 88149025 exon -33 0.6049383 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATGTTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA mutant NA NA NA NA NA 1492 2426 0.9994747 0.999573 0.9995239 1 0.9997805 0.9901404 0.9718552 NA NA 0.009334324 0.02771782 0.9998903 0.9809978 NA 0.01852607 NA FALSE NA 1 8.295 . missense_variant MODERATE ADAM22 HGNC 201 ENST00000398209 18/31 1 tolerated(0.06) benign(0.085) NA TAT A,G 1.656e-05 7:88149025 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001651331 missense_variant 2.677174 0.9927 0.98769 0.693126 0.997682 0 0.9993889 TRUE 2.03867e-05 ENSE00001651331_018 ENSE00001651331 018 7 87778242 87778411 + 50 81 39 A G 87778385 1454 144 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAGTAACTGCTCTAAAACTTATGGGAAAA 88148926 88149096 88149069 88149070 88149070 downstr_intron 13 1.342105 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAGTAACTGCTCTAAAACTTATGGGAAAA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA mutant NA NA NA NA NA 815 287 0.9990366 1 0.9995183 1 0.9997805 0.9901404 0.9718552 NA NA 0.008896202 0.02814482 0.9998903 0.9809978 NA 0.01852051 NA FALSE NA 0 0.586 . intron_variant MODIFIER ADAM22 HGNC 201 ENST00000398209 18/30 1 NA AAT A,G 8.282e-06 7:88149070 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001651331 intron_variant 0.680667 0.2011 0.05849 0.106106 0.551731 0.151247 0.9993889 TRUE NA ENSE00001651331_020 ENSE00001651331 020 7 87778242 87778411 + 50 81 39 T C 87778390 1456 149 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACCGCTCTAAAACTTATGGGAAAA 88148926 88149096 88149074 88149075 88149075 downstr_intron 18 1.473684 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACCGCTCTAAAACTTATGGGAAAA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA mutant NA NA NA NA NA 439 145 1 1 1 1 0.9997805 0.9901404 0.9718552 NA NA 0.009859577 0.02814482 0.9998903 0.9809978 NA 0.0190022 NA FALSE NA 0 0.237 . intron_variant MODIFIER ADAM22 HGNC 201 ENST00000398209 18/30 rs373526912 1 NA C:0 C:0.0001 CTG T,C 8.283e-06 7:88149075 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001651331 intron_variant 0.429685 0.23956 0.10979 0.106106 0.5368651 0.117417 0.9993889 TRUE 4.12052e-06 ENSE00001651331_022 ENSE00001651331 022 7 87778242 87778411 + 50 81 39 C T 87778400 1458 159 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAATTTATGGGAAAA 88148926 88149096 88149084 88149085 88149085 downstr_intron 28 1.736842 GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAATTTATGGGAAAA GATTTTTTTTTCTCCCTACAGTTTCACACGTTGATTTTTGTTCATTTTAGTTTCAGCCTATGGGCACTGTGTGCCGAGAAGCAGTAAATGATTGTGATATTCGTGAAACGTGCTCAGGAAATTCAAGCCAGGTAATTTACAAAATAACTGCTCTAAAACTTATGGGAAAA mutant NA NA NA NA NA 185 294 1 0.9998705 0.9999352 1 0.9997805 0.9901404 0.9718552 NA NA 0.009859577 0.02801527 0.9998903 0.9809978 NA 0.01893742 NA FALSE NA 0 -0.651 NA NA NA ADAM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:88149085 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001651331 intron_variant 0.254936 0.19017 0.03298 0.106106 0.7437502 0.117417 0.9993889 TRUE 5.0163e-05 ENSE00001651596_000 ENSE00001651596 000 X 148796099 148796268 + 42 96 32 NA NA NA NA NA AGGAACCCTCAATCCTCCCTCAGGTTTCTCACCTGGACTCTTGGCAGATCCTGGGACCACTGTAGTTGTGGACCATATGGGGCTCTTTCTGTTGACTGGAAGTCGTCCTCTGAGAACATAGTGCTCACCTGCCCAAGATTCCAAAACAGAAGTAAGGGGCCCCACGTCCC 149714438 149714608 NA NA NA NA NA NA GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT natural 338 572 0.7771725 0.8172737 0.7972231 2357 1342 0.9840263 0.9726881 0.9783572 0.7771725 0.8172737 0.9840263 0.9726881 0 0 0 0 0.7972231 0.9783572 0 0 0 FALSE FALSE NA NA NA NA NA MAGEA11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAGEA11 NA NA NA ENSG00000185247 ENSE00001651596 NA NA NA NA NA NA NA 0.5945445 FALSE NA ENSE00001651596_002 ENSE00001651596 002 X 148796099 148796268 + 42 96 32 C T 148796164 1053 66 AGGAACCCTCAATCCTCCCTCAGGTTTCTCACCTGGACTCTTGGCAGATCCTGGGACCACTGTAGTTGTGGACCATATGGGGCTCTTTCTGTTGACTGGAAGTCATCCTCTGAGAACATAGTGCTCACCTGCCCAAGATTCCAAAACAGAAGTAAGGGGCCCCACGTCCC 149714438 149714608 149714503 149714504 149714504 exon 24 0.25 GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGATGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT mutant NA NA NA NA NA 2846 256 0.805666 0.7845417 0.7951039 0.7771725 0.8172737 0.9840263 0.9726881 NA NA -0.1783603 -0.1881464 0.7972231 0.9783572 NA -0.1832534 NA FALSE NA 0 -0.353 rs73640691 synonymous_variant LOW MAGEA11 HGNC 6798 ENST00000355220 3/5 1 NA ACG N,T 0.00678 X:149714504 MAGEA11 HGNC Symbol protein_coding 29038 ENSG00000185247 ENSE00001651596 synonymous_variant 0.829373 0.06324 0.00116 0 0.2553662 0 0.5945445 FALSE 0.0060888 ENSE00001651596_003 ENSE00001651596 003 X 148796099 148796268 + 42 96 32 G A 148796186 1054 88 AGGAACCCTCAATCCTCCCTCAGGTTTCTCACCTGGACTCTTGGCAGATCCTGGGACCACTGTAGTTGTGGACCATATGGGGTTCTTTCTGTTGACTGGAAGTCGTCCTCTGAGAACATAGTGCTCACCTGCCCAAGATTCCAAAACAGAAGTAAGGGGCCCCACGTCCC 149714438 149714608 149714525 149714526 149714526 exon 46 0.4791667 GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAACCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT mutant NA NA NA NA NA 525 66 0.9803639 1 0.9901819 0.7771725 0.8172737 0.9840263 0.9726881 NA NA -0.003662472 0.02731191 0.7972231 0.9783572 NA 0.01182472 NA FALSE NA 0 -0.189 . missense_variant MODERATE MAGEA11 HGNC 6798 ENST00000355220 3/5 1 deleterious_low_confidence(0.05) possibly_damaging(0.811) NA AGC N,A 4.943e-05 X:149714526 MAGEA11 HGNC Symbol protein_coding 29038 ENSG00000185247 ENSE00001651596 missense_variant 2.811497 0.0698 0.00379 0 0.8733228 0 0.5945445 FALSE 7.30657e-05 ENSE00001651596_005 ENSE00001651596 005 X 148796099 148796268 + 42 96 32 A T 148796191 1056 93 AGGAACCCTCAATCCTCCCTCAGGTTTCTCACCTGGACTCTTGGCAGATCCTGGGACCACTGTAGTTGTGGACCATAAGGGGCTCTTTCTGTTGACTGGAAGTCGTCCTCTGAGAACATAGTGCTCACCTGCCCAAGATTCCAAAACAGAAGTAAGGGGCCCCACGTCCC 149714438 149714608 149714530 149714531 149714531 exon -46 0.53125 GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCTTATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT mutant NA NA NA NA NA 18 317 0.9879777 0.95 0.9689888 0.7771725 0.8172737 0.9840263 0.9726881 NA NA 0.003951318 -0.02268809 0.7972231 0.9783572 NA -0.009368384 NA FALSE NA 0 -2.159 NA NA NA MAGEA11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:149714531 MAGEA11 HGNC Symbol protein_coding 29038 ENSG00000185247 ENSE00001651596 synonymous_variant -1.343996 0.06935 0.00125 0 0.2776607 0 0.5945445 FALSE 0 ENSE00001651596_006 ENSE00001651596 006 X 148796099 148796268 + 42 96 32 T C 148796192 1057 94 AGGAACCCTCAATCCTCCCTCAGGTTTCTCACCTGGACTCTTGGCAGATCCTGGGACCACTGTAGTTGTGGACCATGTGGGGCTCTTTCTGTTGACTGGAAGTCGTCCTCTGAGAACATAGTGCTCACCTGCCCAAGATTCCAAAACAGAAGTAAGGGGCCCCACGTCCC 149714438 149714608 149714531 149714532 149714532 exon -45 0.5416667 GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCACATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT mutant NA NA NA NA NA 196 243 1 0.9964784 0.9982392 0.7771725 0.8172737 0.9840263 0.9726881 NA NA 0.01597366 0.0237903 0.7972231 0.9783572 NA 0.01988198 NA FALSE NA 0 -0.278 . missense_variant MODERATE MAGEA11 HGNC 6798 ENST00000355220 3/5 1 tolerated_low_confidence(0.54) benign(0) NA ATA N,C 8.239e-06 X:149714532 MAGEA11 HGNC Symbol protein_coding 29038 ENSG00000185247 ENSE00001651596 missense_variant 0.515919 0.09536 0.00197 0 0.7688955 0 0.5945445 FALSE 5.6205e-06 ENSE00001651596_008 ENSE00001651596 008 X 148796099 148796268 + 42 96 32 C A 148796233 1059 135 AGGAACCCTCAATCCTCCCTCAGGTTTCTCACCTGTACTCTTGGCAGATCCTGGGACCACTGTAGTTGTGGACCATATGGGGCTCTTTCTGTTGACTGGAAGTCGTCCTCTGAGAACATAGTGCTCACCTGCCCAAGATTCCAAAACAGAAGTAAGGGGCCCCACGTCCC 149714438 149714608 149714572 149714573 149714573 exon -4 0.96875 GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTACAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT GGGACGTGGGGCCCCTTACTTCTGTTTTGGAATCTTGGGCAGGTGAGCACTATGTTCTCAGAGGACGACTTCCAGTCAACAGAAAGAGCCCCATATGGTCCACAACTACAGTGGTCCCAGGATCTGCCAAGAGTCCAGGTGAGAAACCTGAGGGAGGATTGAGGGTTCCT mutant NA NA NA NA NA 787 1644 0.974241 0.9791703 0.9767056 0.7771725 0.8172737 0.9840263 0.9726881 NA NA -0.009785371 0.006482235 0.7972231 0.9783572 NA -0.001651568 NA FALSE NA 0.005 0.223 . synonymous_variant LOW MAGEA11 HGNC 6798 ENST00000355220 3/5 1 NA TCC N,A 1.648e-05 X:149714573 MAGEA11 HGNC Symbol protein_coding 29038 ENSG00000185247 ENSE00001651596 synonymous_variant 0.695508 0.10273 0.01901 0 0.5253401 0 0.5945445 FALSE NA ENSE00001652578_000 ENSE00001652578 000 6 70852596 70852765 + 63 54 53 NA NA NA NA NA GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 NA NA NA NA NA NA GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT natural 21 31 0.99775 0.9671802 0.9824651 8048 7417 0.9444214 0.8954919 0.9199566 0.99775 0.9671802 0.9444214 0.8954919 0 0 0 0 0.9824651 0.9199566 0 0 0 FALSE FALSE NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003717160 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001652578_001 ENSE00001652578 001 6 70852596 70852765 + 63 54 53 T G 70852608 1555 13 GTACAATCTATCGTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142715 70142716 70142716 upstr_intron -51 -0.7936508 GTACAATCTATCGTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 1069 73 0.9478731 0.9441639 0.9460185 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.00345173 0.048672 0.9824651 0.9199566 NA 0.02606187 NA FALSE NA 0.001 -1.193 rs184738912 intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 22/50 rs184738912 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CTT T,G 2.441e-05 6:70142716 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant -0.259812 0.18996 0.07587 0.088506 0.5368498 0.0431032 5.55032e-17 FALSE 1.70532e-05 ENSE00001652578_002 ENSE00001652578 002 6 70852596 70852765 + 63 54 53 T C 70852618 1556 23 GTACAATCTATCTTTTTTTTTCCTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142725 70142726 70142726 upstr_intron -41 -0.6349206 GTACAATCTATCTTTTTTTTTCCTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 190 1577 0.9969276 0.9994187 0.9981732 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05250622 0.1039268 0.9824651 0.9199566 NA 0.07821652 NA FALSE NA 0.038 -0.342 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 22/50 rs374003202 1 NA CTT T,C 8.24e-06 6:70142726 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant -0.151202 0.18951 0.00706 0.106106 0.3777108 0.0431032 5.55032e-17 FALSE NA ENSE00001652578_003 ENSE00001652578 003 6 70852596 70852765 + 63 54 53 T G 70852619 1557 24 GTACAATCTATCTTTTTTTTTCTGTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142726 70142727 70142727 upstr_intron -40 -0.6190476 GTACAATCTATCTTTTTTTTTCTGTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 36 505 0.9395613 0.9699681 0.9547647 0.99775 0.9671802 0.9444214 0.8954919 NA NA -0.004860128 0.07447622 0.9824651 0.9199566 NA 0.03480805 NA FALSE NA 0.114 1.586 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 22/50 1 NA TTT T,G 8.239e-06 6:70142727 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant -0.000191 0.15487 0.05532 0.106106 0.2566677 0.0431032 5.55032e-17 FALSE 4.52677e-06 ENSE00001652578_004 ENSE00001652578 004 6 70852596 70852765 + 63 54 53 T C 70852620 1558 25 GTACAATCTATCTTTTTTTTTCTTCTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142727 70142728 70142728 upstr_intron -39 -0.6031746 GTACAATCTATCTTTTTTTTTCTTCTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 859 1408 0.9938767 0.8798891 0.9368829 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.04945528 -0.0156028 0.9824651 0.9199566 NA 0.01692624 NA FALSE NA 0.068 0.663 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 22/50 rs201226212 1 C:0.0000 C:0 C:0 NA C:0 C:0 C:0 TTT T,C 1.648e-05 6:70142728 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant -0.285277 0.22029 0.14336 0.106106 0.513102 0.0431032 5.55032e-17 FALSE 4.07255e-05 ENSE00001652578_006 ENSE00001652578 006 6 70852596 70852765 + 63 54 53 A G 70852640 1560 45 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATGTACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142747 70142748 70142748 upstr_intron -19 -0.2857143 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATGTACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 201 1289 1 0.9995516 0.9997758 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05557862 0.1040597 0.9824651 0.9199566 NA 0.07981914 NA FALSE NA 0 -0.099 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 22/50 1 NA TAT A,G 8.237e-06 6:70142748 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant -0.209202 0.1544 0.04643 0.106106 0.3108082 0.098662 5.55032e-17 FALSE 8.31691e-06 ENSE00001652578_007 ENSE00001652578 007 6 70852596 70852765 + 63 54 53 A G 70852642 1561 47 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATGCCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142749 70142750 70142750 upstr_intron -17 -0.2539683 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATGCCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 1511 1688 0.9378345 0.9867231 0.9622788 0.99775 0.9671802 0.9444214 0.8954919 NA NA -0.006586843 0.09123125 0.9824651 0.9199566 NA 0.0423222 NA FALSE NA 0 -0.904 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 22/50 1 NA TAC A,G 8.237e-06 6:70142750 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant -0.242413 0.17038 0.01367 0.106106 0.3441154 0.0431032 5.55032e-17 FALSE NA ENSE00001652578_012 ENSE00001652578 012 6 70852596 70852765 + 63 54 53 A G 70852670 1566 75 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGGTCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142777 70142778 70142778 exon 12 0.2222222 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGGTCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 409 559 0.9923079 0.9655958 0.9789519 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.04788655 0.07010393 0.9824651 0.9199566 NA 0.05899524 NA FALSE NA 1 1.056 . synonymous_variant LOW COL19A1 HGNC 2196 ENST00000322773 23/51 1 NA GAT A,G 8.237e-06 6:70142778 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 synonymous_variant -0.117605 0.96235 0.71241 0.475973 0.4938821 0 5.55032e-17 FALSE 8.17214e-06 ENSE00001652578_013 ENSE00001652578 013 6 70852596 70852765 + 63 54 53 C T 70852681 1567 86 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTTCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142788 70142789 70142789 exon 23 0.4259259 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTTCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 177 369 1 1 1 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05557862 0.1045081 0.9824651 0.9199566 NA 0.08004337 NA FALSE NA 0.012 1.507 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 23/51 1 deleterious(0.05) probably_damaging(0.917) NA TCC C,T 8.237e-06 6:70142789 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 missense_variant 2.422617 0.22715 0.11336 0.475973 0.9681004 0 5.55032e-17 FALSE 4.08447e-06 ENSE00001652578_014 ENSE00001652578 014 6 70852596 70852765 + 63 54 53 G C 70852693 1568 98 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCACAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142800 70142801 70142801 exon -20 0.6481481 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCACAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 210 179 1 1 1 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05557862 0.1045081 0.9824651 0.9199566 NA 0.08004337 NA FALSE NA 1 5.854 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 23/51 1 deleterious(0.04) probably_damaging(0.983) NA AGA G,C 8.237e-06 6:70142801 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 missense_variant 4.070348 0.98962 0.97436 0.475973 0.9598054 0 5.55032e-17 FALSE 8.16466e-06 ENSE00001652578_016 ENSE00001652578 016 6 70852596 70852765 + 63 54 53 C A 70852699 1570 104 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACAGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142806 70142807 70142807 exon -14 0.7592593 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACAGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 14 2200 1 0.9983827 0.9991914 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05557862 0.1028908 0.9824651 0.9199566 NA 0.07923472 NA FALSE NA 0.064 0.147 NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70142807 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 missense_variant 3.985056 0.96443 0.22826 0.6512 0.9547498 0 5.55032e-17 FALSE 4.08543e-06 ENSE00001652578_019 ENSE00001652578 019 6 70852596 70852765 + 63 54 53 C G 70852702 1573 107 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCGAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142809 70142810 70142810 exon -11 0.8148148 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCGAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 186 1021 0.9878961 0.8785381 0.9332171 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.04347468 -0.01695379 0.9824651 0.9199566 NA 0.01326044 NA FALSE NA 1 2.129 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 23/51 1 tolerated(0.09) possibly_damaging(0.668) NA CCA C,G 8.237e-06 6:70142810 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 missense_variant 3.267662 0.97615 0.915 0.475973 0.9861926 0 5.55032e-17 FALSE NA ENSE00001652578_020 ENSE00001652578 020 6 70852596 70852765 + 63 54 53 G A 70852705 1574 110 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGAAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142812 70142813 70142813 exon -8 0.8703704 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGAAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 92 660 1 1 1 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05557862 0.1045081 0.9824651 0.9199566 NA 0.08004337 NA FALSE NA 1 5.854 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 23/51 1 deleterious(0) probably_damaging(0.999) NA GGA G,A 8.238e-06 6:70142813 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 missense_variant 4.455233 0.99158 0.9747 0.475973 0.9940247 0 5.55032e-17 FALSE 4.08737e-06 ENSE00001652578_021 ENSE00001652578 021 6 70852596 70852765 + 63 54 53 A G 70852719 1575 124 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTGTAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142826 70142827 70142827 downstr_intron 7 1.134615 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTGTAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 208 423 0.9826805 0.9838485 0.9832645 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.03825914 0.08835658 0.9824651 0.9199566 NA 0.06330786 NA FALSE NA 1 2.294 . splice_region_variant&intron_variant LOW COL19A1 HGNC 2196 ENST00000322773 23/50 1 NA TAT A,G 8.238e-06 6:70142827 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 splice_region_variant 1.449119 0.97848 0.91356 0.106106 0.8900046 0.323589 5.55032e-17 FALSE 8.23208e-06 ENSE00001652578_022 ENSE00001652578 022 6 70852596 70852765 + 63 54 53 T C 70852723 1576 128 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAACGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142830 70142831 70142831 downstr_intron 11 1.211538 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAACGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 778 903 1 0.9952198 0.9976099 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05557862 0.09972788 0.9824651 0.9199566 NA 0.07765325 NA FALSE NA 0 0.089 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 23/50 rs375508868 1 NA C:0 C:0.0001 ATG T,C 8.238e-05 6:70142831 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant 0.47882 0.25481 0.07759 0.106106 0.6763409 0.214699 5.55032e-17 FALSE 7.42605e-05 ENSE00001652578_023 ENSE00001652578 023 6 70852596 70852765 + 63 54 53 G A 70852724 1577 129 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATATCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142831 70142832 70142832 downstr_intron 12 1.230769 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATATCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 213 938 1 0.9993073 0.9996536 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05557862 0.1038154 0.9824651 0.9199566 NA 0.079697 NA FALSE NA 0 -0.135 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 23/50 rs200684298 1 NA TGT G,A 8.239e-06 6:70142832 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant 0.373648 0.18296 0.0213 0.106106 0.549624 0.153901 5.55032e-17 FALSE 8.26241e-06 ENSE00001652578_024 ENSE00001652578 024 6 70852596 70852765 + 63 54 53 T C 70852728 1578 133 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTCTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142835 70142836 70142836 downstr_intron 16 1.307692 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTCTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 574 45 0.9997329 1 0.9998665 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05531154 0.1045081 0.9824651 0.9199566 NA 0.07990983 NA FALSE NA 0.009 0.756 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 23/50 1 NA TTT T,C 8.239e-06 6:70142836 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant 0.233619 0.2252 0.04043 0.106106 0.5754361 0.153901 5.55032e-17 FALSE 4.18085e-06 ENSE00001652578_025 ENSE00001652578 025 6 70852596 70852765 + 63 54 53 T C 70852734 1579 139 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATACTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142841 70142842 70142842 downstr_intron 22 1.423077 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATACTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 1089 236 0.9995456 1 0.9997728 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.05512425 0.1045081 0.9824651 0.9199566 NA 0.07981618 NA FALSE NA 0 -0.144 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 23/50 rs375041181 1 NA C:0.0002 C:0 ATT T,C 8.239e-06 6:70142842 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant 0.158561 0.17779 0.04351 0.106106 0.6456756 0.153901 5.55032e-17 FALSE 4.26763e-06 ENSE00001652578_026 ENSE00001652578 026 6 70852596 70852765 + 63 54 53 A T 70852741 1580 146 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGTATTGAAATTGAGACTAGGACATGT 70142703 70142873 70142848 70142849 70142849 downstr_intron 29 1.557692 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGTATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 118 780 0.9785417 0.9995035 0.9890226 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.03412035 0.1040116 0.9824651 0.9199566 NA 0.06906596 NA FALSE NA 0.564 1.169 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 23/50 1 NA GAA A,T 8.24e-06 6:70142849 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant 0.498933 0.6241 0.45148 0.106106 0.7737493 0.153901 5.55032e-17 FALSE 4.2969e-06 ENSE00001652578_027 ENSE00001652578 027 6 70852596 70852765 + 63 54 53 T C 70852743 1581 148 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAACTGAAATTGAGACTAGGACATGT 70142703 70142873 70142850 70142851 70142851 downstr_intron 31 1.596154 GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAACTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT mutant NA NA NA NA NA 1200 697 0.9942021 1 0.9971011 0.99775 0.9671802 0.9444214 0.8954919 NA NA 0.04978074 0.1045081 0.9824651 0.9199566 NA 0.07714443 NA FALSE NA 0.589 0.147 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 23/50 rs200192558 1 C:0.0004 C:0 C:0.0029 NA C:0 C:0 C:0 C:0 C:0.0003 ATT T,C 0.000173 6:70142851 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003717160 intron_variant 0.025013 0.17414 0.0509 0.106106 0.4740413 0.153901 5.55032e-17 FALSE 0.000176144 ENSE00001652578_BRK ENSE00001652578 BRK 6 70852596 70852765 + 63 54 53 A,G; T,T NA NA NA GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTTTGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTCCATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT 70142703 70142873 NA NA NA NA NA NA GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTTTGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTCCATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT GTACAATCTATCTTTTTTTTTCTTTTTTAGCAAAGCTAAAGTATATACCACCTTTTATTTTAGGGTCAGCAAGGATCTGCAGGCTCCATGGGACCCAGAGGACCGCCAGGAGATGTTGTATGTATAATGTCTTTGATATTTCTGGAATTGAAATTGAGACTAGGACATGT control 77 357 0 0 0 88 406 0 0 0 0.99775 0.9671802 0.9444214 0.8954919 -0.99775 -0.9671802 -0.9444214 -0.8954919 0.9824651 0.9199566 -0.9824651 -0.9199566 0.06250846 TRUE TRUE NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003717160 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001652796_000 ENSE00001652796 000 9 125832576 125832745 + 53 75 42 NA NA NA NA NA GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 NA NA NA NA NA NA GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC natural 131 131 0.9890217 0.992464 0.9907429 2204 3055 0.9829336 0.9269887 0.9549612 0.9890217 0.992464 0.9829336 0.9269887 0 0 0 0 0.9907429 0.9549612 0 0 0 FALSE FALSE NA NA NA NA NA RABGAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RABGAP1 NA NA NA ENSG00000011454 ENSE00003607685 NA NA NA NA NA NA NA 0.9999998 TRUE NA ENSE00001652796_001 ENSE00001652796 001 9 125832576 125832745 + 53 75 42 A G 125832590 2355 15 GCCCACAAGTGGCTGCATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 123070310 123070311 123070311 upstr_intron -39 -0.7169811 GCCCACAAGTGGCTGCATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC mutant NA NA NA NA NA 633 59 0.9972602 0.9918644 0.9945623 0.9890217 0.992464 0.9829336 0.9269887 NA NA 0.01432656 0.06487573 0.9907429 0.9549612 NA 0.03960114 NA FALSE NA 0 -1.451 . upstream_gene_variant MODIFIER RABGAP1 HGNC 17155 ENST00000474707 rs538023447 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAC A,G 8.237e-06 9:123070311 RABGAP1 HGNC Symbol protein_coding 164033 ENSG00000011454 ENSE00003607685 intron_variant 0.056408 0.16601 0.02422 0.156188 0.4512323 0.0526402 0.9999998 TRUE 4.08604e-06 ENSE00001652796_002 ENSE00001652796 002 9 125832576 125832745 + 53 75 42 A T 125832592 2356 17 GCCCACAAGTGGCTACTTTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 123070312 123070313 123070313 upstr_intron -37 -0.6792453 GCCCACAAGTGGCTACTTTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC mutant NA NA NA NA NA 459 59 0.9955557 1 0.9977778 0.9890217 0.992464 0.9829336 0.9269887 NA NA 0.01262206 0.07301131 0.9907429 0.9549612 NA 0.04281669 NA FALSE NA 0 -0.374 . upstream_gene_variant MODIFIER RABGAP1 HGNC 17155 ENST00000474707 1 NA CAT A,T 8.237e-06 9:123070313 RABGAP1 HGNC Symbol protein_coding 164033 ENSG00000011454 ENSE00003607685 intron_variant -0.451305 0.05961 0.01509 0.156188 0.4722543 0.0526402 0.9999998 TRUE 4.0829e-06 ENSE00001652796_003 ENSE00001652796 003 9 125832576 125832745 + 53 75 42 T C 125832603 2357 28 GCCCACAAGTGGCTACATTCATTTACACTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 123070323 123070324 123070324 upstr_intron -26 -0.4716981 GCCCACAAGTGGCTACATTCATTTACACTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC mutant NA NA NA NA NA 583 203 1 0.9992201 0.9996101 0.9890217 0.992464 0.9829336 0.9269887 NA NA 0.01706637 0.07223144 0.9907429 0.9549612 NA 0.0446489 NA FALSE NA 0 -0.646 . upstream_gene_variant MODIFIER RABGAP1 HGNC 17155 ENST00000474707 1 NA ATT T,C 8.237e-06 9:123070324 RABGAP1 HGNC Symbol protein_coding 164033 ENSG00000011454 ENSE00003607685 intron_variant 0.030818 0.12229 0.00482 0.156188 0.445075 0.0526402 0.9999998 TRUE 8.14803e-06 ENSE00001652796_004 ENSE00001652796 004 9 125832576 125832745 + 53 75 42 C T 125832626 2358 51 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCTAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 123070346 123070347 123070347 upstr_intron -3 -0.03773585 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCTAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC mutant NA NA NA NA NA 532 868 1 0.9948637 0.9974318 0.9890217 0.992464 0.9829336 0.9269887 NA NA 0.01706637 0.06787498 0.9907429 0.9549612 NA 0.04247067 NA FALSE NA 0.836 1.563 . upstream_gene_variant MODIFIER RABGAP1 HGNC 17155 ENST00000474707 1 NA CCA C,T 8.237e-06 9:123070347 RABGAP1 HGNC Symbol protein_coding 164033 ENSG00000011454 ENSE00003607685 splice_region_variant 1.995532 0.97752 0.81932 0.156188 0.8604522 0.476809 0.9999998 TRUE 8.13564e-06 ENSE00001652796_006 ENSE00001652796 006 9 125832576 125832745 + 53 75 42 C T 125832670 2360 95 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGTCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 123070390 123070391 123070391 exon -34 0.56 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGTCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC mutant NA NA NA NA NA 815 82 0.9983034 0.9327946 0.965549 0.9890217 0.992464 0.9829336 0.9269887 NA NA 0.01536979 0.00580594 0.9907429 0.9549612 NA 0.01058787 NA FALSE NA 1 1.695 . upstream_gene_variant MODIFIER RABGAP1 HGNC 17155 ENST00000474707 1 NA GCC C,T 8.236e-06 9:123070391 RABGAP1 HGNC Symbol protein_coding 164033 ENSG00000011454 ENSE00003607685 synonymous_variant 1.329843 0.9756 0.89448 0.706298 0.6977618 0 0.9999998 TRUE 8.12533e-06 ENSE00001652796_007 ENSE00001652796 007 9 125832576 125832745 + 53 75 42 C T 125832694 2361 119 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTTCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 123070414 123070415 123070415 exon -10 0.88 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTTCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC mutant NA NA NA NA NA 217 3718 1 0.9992286 0.9996143 0.9890217 0.992464 0.9829336 0.9269887 NA NA 0.01706637 0.07223991 0.9907429 0.9549612 NA 0.04465314 NA FALSE NA 1 1.462 . upstream_gene_variant MODIFIER RABGAP1 HGNC 17155 ENST00000474707 1 NA TCC C,T 8.236e-06 9:123070415 RABGAP1 HGNC Symbol protein_coding 164033 ENSG00000011454 ENSE00003607685 synonymous_variant 1.261349 0.983 0.87746 0.706298 0.667275 0 0.9999998 TRUE 1.21904e-05 ENSE00001652796_008 ENSE00001652796 008 9 125832576 125832745 + 53 75 42 G C 125832715 2362 140 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTACGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 123070435 123070436 123070436 downstr_intron 12 1.292683 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTACGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC mutant NA NA NA NA NA 379 3634 1 0.9999895 0.9999948 0.9890217 0.992464 0.9829336 0.9269887 NA NA 0.01706637 0.07300084 0.9907429 0.9549612 NA 0.0450336 NA FALSE NA 0 -0.771 . upstream_gene_variant MODIFIER RABGAP1 HGNC 17155 ENST00000474707 1 NA AGG G,C 8.237e-06 9:123070436 RABGAP1 HGNC Symbol protein_coding 164033 ENSG00000011454 ENSE00003607685 intron_variant 1.901419 0.22853 0.09073 0.099367 0.7785968 0.277206 0.9999998 TRUE 4.06587e-06 ENSE00001652796_010 ENSE00001652796 010 9 125832576 125832745 + 53 75 42 T C 125832731 2364 156 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTCAACACATGGCCTCC 123070296 123070466 123070451 123070452 123070452 downstr_intron 28 1.682927 GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTCAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC mutant NA NA NA NA NA 144 452 0.9968133 0.9989489 0.9978811 0.9890217 0.992464 0.9829336 0.9269887 NA NA 0.01387965 0.07196018 0.9907429 0.9549612 NA 0.04291991 NA FALSE NA 0 0.112 . upstream_gene_variant MODIFIER RABGAP1 HGNC 17155 ENST00000474707 1 NA TTA T,C 3.295e-05 9:123070452 RABGAP1 HGNC Symbol protein_coding 164033 ENSG00000011454 ENSE00003607685 intron_variant 1.045374 0.34612 0.15678 0.099367 0.8236629 0.106787 0.9999998 TRUE 1.22166e-05 ENSE00001652796_BRK ENSE00001652796 BRK 9 125832576 125832745 + 53 75 42 A,G; T,T NA NA NA GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCTTGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATCCGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC 123070296 123070466 NA NA NA NA NA NA GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCTTGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATCCGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC GCCCACAAGTGGCTACATTCATTTACATTTCCTCTGTGTGTTTTATTTTCCAGGCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCATGTGAGTAATTAGGTCTCTGTTATGACTTAACACATGGCCTCC control 765 474 0 0 0 263 833 0.001142612 0.02448792 0.01281527 0.9890217 0.992464 0.9829336 0.9269887 -0.9890217 -0.992464 -0.981791 -0.9025008 0.9907429 0.9549612 -0.9907429 -0.9421459 0.04859698 TRUE TRUE NA NA NA NA NA RABGAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RABGAP1 NA NA NA ENSG00000011454 ENSE00003607685 NA NA NA NA NA NA NA 0.9999998 TRUE NA ENSE00001652806_000 ENSE00001652806 000 19 14522285 14522454 - 33 93 44 NA NA NA NA NA GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 NA NA NA NA NA NA GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC natural 78 56 0.9797558 0.9948753 0.9873155 5156 2354 0.9607222 0.9100954 0.9354088 0.9797558 0.9948753 0.9607222 0.9100954 0 0 0 0 0.9873155 0.9354088 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX39A NA NA NA ENSG00000123136 ENSE00003607722 NA NA NA NA NA NA NA 0.8434858 FALSE NA ENSE00001652806_001 ENSE00001652806 001 19 14522285 14522454 - 33 93 44 C T 14522300 1202 155 GGCGCCTGGTCCAGTTTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411487 14411488 14411488 downstr_intron 18 1.5625 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAAACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 2153 811 0.7821655 0.9387426 0.860454 0.9797558 0.9948753 0.9607222 0.9100954 NA NA -0.1785567 0.02864723 0.9873155 0.9354088 NA -0.07495474 NA FALSE NA 0.004 0.857 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:14411488 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 non_coding_transcript_exon_variant 0.295659 0.18258 0.61536 0.283894 0.7377754 0.0690295 0.8434858 FALSE 4.06382e-06 ENSE00001652806_002 ENSE00001652806 002 19 14522285 14522454 - 33 93 44 C A 14522300 1203 155 GGCGCCTGGTCCAGTATGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411487 14411488 14411488 downstr_intron 18 1.5625 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCATACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 98 922 1 0.9978561 0.9989281 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03927783 0.08776074 0.9873155 0.9354088 NA 0.06351929 NA FALSE NA 0.004 0.857 NA NA NA DDX39A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX39A NA NA NA ENSG00000123136 ENSE00003607722 non_coding_transcript_exon_variant 0.275799 0.20147 0.66025 0.283894 0.7525319 0.0690295 0.8434858 FALSE 4.06382e-06 ENSE00001652806_003 ENSE00001652806 003 19 14522285 14522454 - 33 93 44 C T 14522306 1204 149 GGCGCCTGGTCCAGTCTGGCCTGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411493 14411494 14411494 downstr_intron 12 1.375 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCAGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 1028 237 0.9337125 1 0.9668562 0.9797558 0.9948753 0.9607222 0.9100954 NA NA -0.0270097 0.08990462 0.9873155 0.9354088 NA 0.03144746 NA FALSE NA 0 -1.055 . intron_variant MODIFIER DDX39A HGNC 17821 ENST00000454233 3/5 1 NA CCG C,T 2.471e-05 19:14411494 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 non_coding_transcript_exon_variant -0.036883 0.13859 0.13284 0.283894 0.5883746 0.069123 0.8434858 FALSE 2.03127e-05 ENSE00001652806_004 ENSE00001652806 004 19 14522285 14522454 - 33 93 44 G A 14522307 1205 148 GGCGCCTGGTCCAGTCTGGCCCAAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411494 14411495 14411495 downstr_intron 11 1.34375 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTTGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 1232 644 1 0.9997543 0.9998772 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03927783 0.08965897 0.9873155 0.9354088 NA 0.0644684 NA FALSE NA 0 -0.264 . intron_variant MODIFIER DDX39A HGNC 17821 ENST00000454233 3/5 rs369868129 1 NA A:0.0005 A:0 CGA G,A 3.295e-05 19:14411495 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 non_coding_transcript_exon_variant -0.059234 0.15631 0.16553 0.283894 0.5887266 0.069123 0.8434858 FALSE 2.4373e-05 ENSE00001652806_005 ENSE00001652806 005 19 14522285 14522454 - 33 93 44 C T 14522323 1206 132 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGATGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411510 14411511 14411511 exon -6 0.9462366 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCATCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 511 633 0.9945574 0.9965669 0.9955621 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03383521 0.08647153 0.9873155 0.9354088 NA 0.06015337 NA FALSE NA 1 5.277 rs36127505 missense_variant MODERATE DDX39A HGNC 17821 ENST00000454233 3/6 rs36127505 1 tolerated(0.41) benign(0.073) T:0.0146 T:0.0514 T:0.0072 NA T:0 T:0 T:0 T:0.0508 T:0.0001 ACG C,T 0.004843 19:14411511 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 missense_variant 3.515042 0.95725 0.98092 0.67177 0.996557 0 0.8434858 FALSE 0.00434959 ENSE00001652806_006 ENSE00001652806 006 19 14522285 14522454 - 33 93 44 G A 14522324 1207 131 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACACTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411511 14411512 14411512 exon -7 0.9354839 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGTGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 738 1678 0.8994088 0.9986388 0.9490238 0.9797558 0.9948753 0.9607222 0.9100954 NA NA -0.06131335 0.08854338 0.9873155 0.9354088 NA 0.01361502 NA FALSE NA 0.003 -1.207 . synonymous_variant LOW DDX39A HGNC 17821 ENST00000454233 3/6 1 NA CGC G,A 8.236e-06 19:14411512 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 synonymous_variant 2.098247 0.47961 0.25584 0.67177 0.8868204 0 0.8434858 FALSE 8.12222e-06 ENSE00001652806_007 ENSE00001652806 007 19 14522285 14522454 - 33 93 44 C A 14522325 1208 130 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGATGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411512 14411513 14411513 exon -8 0.9247312 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCATCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 1877 1105 0.9975416 0.989241 0.9933913 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03681946 0.07914558 0.9873155 0.9354088 NA 0.05798252 NA FALSE NA 0.331 0.409 . missense_variant MODERATE DDX39A HGNC 17821 ENST00000454233 3/6 1 tolerated(0.07) benign(0.107) NA GCT C,A 8.236e-06 19:14411513 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 missense_variant 3.424069 0.85887 0.68968 0.67177 0.9901733 0 0.8434858 FALSE 4.06118e-06 ENSE00001652806_008 ENSE00001652806 008 19 14522285 14522454 - 33 93 44 T G 14522326 1209 129 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCGGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411513 14411514 14411514 exon -9 0.9139785 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCCGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 237 258 1 0.998772 0.999386 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03927783 0.08867665 0.9873155 0.9354088 NA 0.06397724 NA FALSE NA 1 4.409 . missense_variant MODERATE DDX39A HGNC 17821 ENST00000454233 3/6 1 deleterious(0.05) possibly_damaging(0.596) NA CTG T,G 8.236e-06 19:14411514 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 missense_variant 3.341126 0.93085 0.97774 0.67177 0.9957587 0 0.8434858 FALSE 4.06111e-06 ENSE00001652806_009 ENSE00001652806 009 19 14522285 14522454 - 33 93 44 G C 14522327 1210 128 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTCGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411514 14411515 14411515 exon -10 0.9032258 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCGAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 814 335 1 1 1 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03927783 0.08990462 0.9873155 0.9354088 NA 0.06459123 NA FALSE NA 1 1.731 . synonymous_variant LOW DDX39A HGNC 17821 ENST00000454233 3/6 1 NA TGG G,C 2.471e-05 19:14411515 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 synonymous_variant 1.210315 0.90531 0.95907 0.67177 0.8053529 0 0.8434858 FALSE 1.62439e-05 ENSE00001652806_010 ENSE00001652806 010 19 14522285 14522454 - 33 93 44 T G 14522332 1211 123 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCAGGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411519 14411520 14411520 exon -15 0.8494624 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACCTGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 1144 793 0.9997119 1 0.9998559 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03898969 0.08990462 0.9873155 0.9354088 NA 0.06444716 NA FALSE NA 1 7.194 . missense_variant MODERATE DDX39A HGNC 17821 ENST00000454233 3/6 1 tolerated(0.67) benign(0.026) NA ATG T,G 8.236e-06 19:14411520 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 missense_variant 2.32795 0.95011 0.98793 0.67177 0.9104814 0 0.8434858 FALSE 4.06068e-06 ENSE00001652806_011 ENSE00001652806 011 19 14522285 14522454 - 33 93 44 C T 14522350 1212 105 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTTATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411537 14411538 14411538 exon -33 0.655914 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATAAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 457 247 0.993037 0.8934254 0.9432312 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03231485 -0.01666999 0.9873155 0.9354088 NA 0.007822432 NA FALSE NA 1 5.262 . missense_variant MODERATE DDX39A HGNC 17821 ENST00000454233 3/6 rs375885508&COSM403734 1 tolerated(0.26) benign(0.044) NA T:0 T:0.0001 TCA C,T 8.236e-06 19:14411538 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 missense_variant 2.744605 0.92373 0.97208 0.67177 0.9976684 0 0.8434858 FALSE 8.1215e-06 ENSE00001652806_014 ENSE00001652806 014 19 14522285 14522454 - 33 93 44 G A 14522385 1215 70 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCATGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411572 14411573 14411573 exon 26 0.2795699 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACATGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 598 261 0.9971691 0.8672528 0.9322109 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03644691 -0.04284257 0.9873155 0.9354088 NA -0.003197834 NA FALSE NA 1 6.961 . missense_variant MODERATE DDX39A HGNC 17821 ENST00000454233 3/6 1 deleterious(0) probably_damaging(0.994) NA CGT G,A 1.647e-05 19:14411573 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 missense_variant 6.492432 0.9582 0.98555 0.67177 0.9991732 0 0.8434858 FALSE 8.12269e-06 ENSE00001652806_015 ENSE00001652806 015 19 14522285 14522454 - 33 93 44 A G 14522394 1216 61 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACGTGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411581 14411582 14411582 exon 17 0.1827957 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCACGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 186 1436 0.9267223 0.9952119 0.9609671 0.9797558 0.9948753 0.9607222 0.9100954 NA NA -0.03399991 0.0851165 0.9873155 0.9354088 NA 0.02555829 NA FALSE NA 1 8.318 . missense_variant MODERATE DDX39A HGNC 17821 ENST00000454233 3/6 1 deleterious(0) possibly_damaging(0.817) NA CAT A,G 8.236e-06 19:14411582 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 missense_variant 5.508207 0.94968 0.9908 0.67177 0.9895548 0 0.8434858 FALSE 4.06171e-06 ENSE00001652806_016 ENSE00001652806 016 19 14522285 14522454 - 33 93 44 C T 14522399 1217 56 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACTAGGACCGTCACCTGGGAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411586 14411587 14411587 exon 12 0.1290323 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTAGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 549 682 1 1 1 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03927783 0.08990462 0.9873155 0.9354088 NA 0.06459123 NA FALSE NA 0.534 -0.189 rs144413770 synonymous_variant LOW DDX39A HGNC 17821 ENST00000454233 3/6 rs144413770 1 NA T:0.0005 T:0 CCA C,T 1.647e-05 19:14411587 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 synonymous_variant 1.685902 0.88083 0.83606 0.67177 0.8002377 0 0.8434858 FALSE 4.06246e-06 ENSE00001652806_018 ENSE00001652806 018 19 14522285 14522454 - 33 93 44 G T 14522415 1219 40 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGTAAGTGGCATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411602 14411603 14411603 upstr_intron -5 -0.09090909 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTACCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 945 235 0.9990819 0.988729 0.9939054 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.0383597 0.07863365 0.9873155 0.9354088 NA 0.05849668 NA FALSE NA 0.003 -0.148 . splice_region_variant&intron_variant LOW DDX39A HGNC 17821 ENST00000454233 2/5 1 NA GGA G,T 8.237e-06 19:14411603 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 splice_region_variant -0.193968 0.16183 0.16833 0.115753 0.7677752 0.111063 0.8434858 FALSE 4.08473e-06 ENSE00001652806_020 ENSE00001652806 020 19 14522285 14522454 - 33 93 44 G A 14522421 1221 34 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGACATAAGAAGAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411608 14411609 14411609 upstr_intron -11 -0.2272727 GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGTCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 1785 739 0.9706514 0.9842885 0.9774699 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.009929191 0.07419312 0.9873155 0.9354088 NA 0.04206115 NA FALSE NA 0.018 0.83 NA NA NA DDX39A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:14411609 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 intron_variant 0.14873 0.15505 0.28283 0.069865 0.6429167 0.0674148 0.8434858 FALSE 8.33201e-06 ENSE00001652806_021 ENSE00001652806 021 19 14522285 14522454 - 33 93 44 G A 14522430 1222 25 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAAAGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411617 14411618 14411618 upstr_intron -20 -0.4318182 GGACACTGCCTAAGGTAAGGCCCTTTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 703 923 0.9990006 0.9861745 0.9925875 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03827838 0.07607912 0.9873155 0.9354088 NA 0.05717875 NA FALSE NA 0.008 -0.789 . intron_variant MODIFIER DDX39A HGNC 17821 ENST00000454233 2/5 1 NA AGA G,A 2.59e-05 19:14411618 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 intron_variant -0.018878 0.11322 0.14192 0.069865 0.4144863 0.0674148 0.8434858 FALSE 2.14611e-05 ENSE00001652806_022 ENSE00001652806 022 19 14522285 14522454 - 33 93 44 A G 14522431 1223 24 GGCGCCTGGTCCAGTCTGGCCCGAGGGACTCACCTTGACGCTGGGCATGTACTTGGAAAAGCGCTCATATTCCTTGCTGATCTGGAAGGCCAGCTCCCTCGTGTGGCACATGACCAGGACCGTCACCTGGGAAGTGGCATAAGAAGGGGGCCTTACCTTAGGCAGTGTCC 14411472 14411642 14411618 14411619 14411619 upstr_intron -21 -0.4545455 GGACACTGCCTAAGGTAAGGCCCCCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC mutant NA NA NA NA NA 928 1103 0.9970366 0.9976989 0.9973678 0.9797558 0.9948753 0.9607222 0.9100954 NA NA 0.03631446 0.08760351 0.9873155 0.9354088 NA 0.06195899 NA FALSE NA 0 0.192 . intron_variant MODIFIER DDX39A HGNC 17821 ENST00000454233 2/5 1 NA GAG A,G 1.295e-05 19:14411619 DDX39A HGNC Symbol protein_coding 10564 ENSG00000123136 ENSE00003607722 intron_variant -0.188039 0.13017 0.04191 0.069865 0.4037088 0.0674148 0.8434858 FALSE 1.06984e-05 ENSE00001652806_BRK ENSE00001652806 BRK 19 14522285 14522454 - 33 93 44 A,G; T,T NA NA NA GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCTTGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGCCGAGTCCCTCGGGCCAGACTGGACCAGGCGCC 14411472 14411642 NA NA NA NA NA NA GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCTTGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGCCGAGTCCCTCGGGCCAGACTGGACCAGGCGCC GGACACTGCCTAAGGTAAGGCCCTCTTCTTATGCCACTTCCCAGGTGACGGTCCTGGTCATGTGCCACACGAGGGAGCTGGCCTTCCAGATCAGCAAGGAATATGAGCGCTTTTCCAAGTACATGCCCAGCGTCAAGGTGAGTCCCTCGGGCCAGACTGGACCAGGCGCC control 50 60 0.02607537 0 0.01303769 NA NA NA NA NA 0.9797558 0.9948753 0.9607222 0.9100954 -0.9536804 -0.9948753 NA NA 0.9873155 0.9354088 -0.9742779 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003607722 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001653697_000 ENSE00001653697 000 8 134258803 134258972 - 56 48 66 NA NA NA NA NA GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 NA NA NA NA NA NA GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT natural 48 69 0.9877567 0.9865908 0.9871738 2102 1918 0.9560284 0.9953657 0.975697 0.9877567 0.9865908 0.9560284 0.9953657 0 0 0 0 0.9871738 0.975697 0 0 0 FALSE FALSE NA NA NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG1 NA NA NA ENSG00000104419 ENSE00003632772 NA NA NA NA NA NA NA 0.05382324 FALSE NA ENSE00001653697_001 ENSE00001653697 001 8 134258803 134258972 - 56 48 66 T C 134258825 2071 148 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTGTTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246581 133246582 133246582 downstr_intron 34 1.618182 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTGTTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 1222 841 0.9994937 1 0.9997469 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04346536 0.004634302 0.9871738 0.975697 NA 0.02404983 NA FALSE NA 0 -0.601 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 12/14 rs367862297 1 NA C:0 C:0.0001 ATA T,C 8.236e-06 8:133246582 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant -0.14925 0.15849 0.0607 0.360735 0.2676525 0.046875 0.05382324 FALSE 4.06058e-06 ENSE00001653697_002 ENSE00001653697 002 8 134258803 134258972 - 56 48 66 C T 134258834 2072 139 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCATGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246590 133246591 133246591 downstr_intron 25 1.454545 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCATGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 1352 245 0.998899 0.9993762 0.9991376 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04287063 0.004010536 0.9871738 0.975697 NA 0.02344058 NA FALSE NA 0 0.131 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 12/14 rs370127482 1 NA T:0.0002 T:0 ACG C,T 1.647e-05 8:133246591 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.236591 0.17654 0.15139 0.360735 0.4782463 0.046875 0.05382324 FALSE 1.21818e-05 ENSE00001653697_003 ENSE00001653697 003 8 134258803 134258972 - 56 48 66 G A 134258835 2073 138 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTTGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246591 133246592 133246592 downstr_intron 24 1.436364 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTTGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 686 256 0.9970241 0.9950252 0.9960247 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04099571 -0.0003404644 0.9871738 0.975697 NA 0.02032762 NA FALSE NA 0 0.061 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:133246592 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.032676 0.08803 0.00401 0.360735 0.5154875 0.046875 0.05382324 FALSE 1.62427e-05 ENSE00001653697_004 ENSE00001653697 004 8 134258803 134258972 - 56 48 66 G C 134258835 2074 138 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTGGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246591 133246592 133246592 downstr_intron 24 1.436364 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTGGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 588 339 0.9957348 0.9941798 0.9949573 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.0397064 -0.00118594 0.9871738 0.975697 NA 0.01926023 NA FALSE NA 0 0.061 NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG1 NA NA NA ENSG00000104419 ENSE00003632772 intron_variant -0.328986 0.16423 0.02787 0.360735 0.5288349 0.046875 0.05382324 FALSE 4.06068e-06 ENSE00001653697_005 ENSE00001653697 005 8 134258803 134258972 - 56 48 66 C A 134258839 2075 134 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGTGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246595 133246596 133246596 downstr_intron 20 1.363636 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGTGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 354 534 0.9671952 0.9997037 0.9834495 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.0111668 0.004338021 0.9871738 0.975697 NA 0.007752411 NA FALSE NA 0 -2.276 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 12/14 1 NA CCC C,A 2.471e-05 8:133246596 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.191881 0.18974 0.10137 0.360735 0.3596362 0.046875 0.05382324 FALSE 1.21818e-05 ENSE00001653697_006 ENSE00001653697 006 8 134258803 134258972 - 56 48 66 T C 134258845 2076 128 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACGGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246601 133246602 133246602 downstr_intron 14 1.254545 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACGGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 118 457 0.979924 0.9996538 0.9897889 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.02389557 0.004288078 0.9871738 0.975697 NA 0.01409182 NA FALSE NA 0 0.009 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 12/14 1 NA CTG T,C 8.236e-06 8:133246602 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.203852 0.15447 0.07007 0.360735 0.4513838 0.046875 0.05382324 FALSE 1.21818e-05 ENSE00001653697_007 ENSE00001653697 007 8 134258803 134258972 - 56 48 66 C T 134258851 2077 122 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGAAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246607 133246608 133246608 downstr_intron 8 1.145455 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGAAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 113 686 1 1 1 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04397161 0.004634302 0.9871738 0.975697 NA 0.02430296 NA FALSE NA 0 -0.203 . splice_region_variant&intron_variant LOW NDRG1 HGNC 7679 ENST00000537882 12/14 1 NA TCC C,T 0.0001235 8:133246608 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 splice_region_variant 0.201637 0.18038 0.11845 0.360735 0.3750123 0.0536794 0.05382324 FALSE 0.000109636 ENSE00001653697_008 ENSE00001653697 008 8 134258803 134258972 - 56 48 66 C T 134258853 2078 120 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAAGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246609 133246610 133246610 downstr_intron 6 1.109091 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAAGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 435 92 0.9968142 0.9957226 0.9962684 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04078577 0.0003569451 0.9871738 0.975697 NA 0.02057136 NA FALSE NA 0 -0.995 . splice_region_variant&intron_variant LOW NDRG1 HGNC 7679 ENST00000537882 12/14 rs372507544 1 NA T:0.0002 T:0 CCT C,T 8.236e-06 8:133246610 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 splice_region_variant 0.563647 0.1976 0.03726 0.360735 0.4694623 0.204853 0.05382324 FALSE NA ENSE00001653697_009 ENSE00001653697 009 8 134258803 134258972 - 56 48 66 T C 134258856 2079 117 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTGCAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246612 133246613 133246613 downstr_intron 3 1.054545 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTGCAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 315 147 0.9278673 0.8088599 0.8683636 0.9877567 0.9865908 0.9560284 0.9953657 NA NA -0.02816109 -0.1865058 0.9871738 0.975697 NA -0.1073334 NA FALSE NA 0.999 4.437 . splice_region_variant&intron_variant LOW NDRG1 HGNC 7679 ENST00000537882 12/14 1 NA GTA T,C 8.236e-06 8:133246613 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 splice_region_variant 1.926123 0.96009 0.81403 0.360735 0.9706387 0.971283 0.05382324 FALSE 4.06058e-06 ENSE00001653697_010 ENSE00001653697 010 8 134258803 134258972 - 56 48 66 G A 134258862 2080 111 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTTAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246618 133246619 133246619 exon -4 0.9375 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTTAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 2181 71 0.9612428 1 0.9806214 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.005214433 0.004634302 0.9871738 0.975697 NA 0.004924367 NA FALSE NA 0.691 -0.186 . synonymous_variant LOW NDRG1 HGNC 7679 ENST00000537882 12/15 rs376272911 1 NA A:0.0002 A:0 TGA G,A 1.647e-05 8:133246619 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 synonymous_variant 1.001337 0.89359 0.66956 0.634777 0.7845865 0 0.05382324 FALSE 8.1211e-06 ENSE00001653697_011 ENSE00001653697 011 8 134258803 134258972 - 56 48 66 G A 134258864 2081 109 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCTTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246620 133246621 133246621 exon -6 0.8958333 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCTTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 149 310 1 0.9580838 0.9790419 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04397161 -0.03728185 0.9871738 0.975697 NA 0.003344879 NA FALSE NA 1 6.179 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000537882 12/15 1 deleterious(0.02) probably_damaging(0.999) NA AGG G,A 8.236e-06 8:133246621 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 missense_variant 6.460019 0.9696 0.97228 0.634777 0.999029 0 0.05382324 FALSE 4.06055e-06 ENSE00001653697_012 ENSE00001653697 012 8 134258803 134258972 - 56 48 66 T A 134258879 2082 94 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCATCAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246635 133246636 133246636 exon -21 0.5833333 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCATCAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 549 1135 0.9947528 0.9284117 0.9615822 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.03872438 -0.06695399 0.9871738 0.975697 NA -0.01411481 NA FALSE NA 1 7.469 . missense_variant MODERATE NDRG1 HGNC 7679 ENST00000537882 12/15 1 tolerated(0.05) probably_damaging(0.992) NA GTT T,A 2.471e-05 8:133246636 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 missense_variant 4.177103 0.96189 0.98126 0.634777 0.9945129 0 0.05382324 FALSE 2.03029e-05 ENSE00001653697_013 ENSE00001653697 013 8 134258803 134258972 - 56 48 66 G A 134258883 2083 90 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGATCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246639 133246640 133246640 exon 24 0.5 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGATCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 217 627 0.9863025 1 0.9931512 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.03027409 0.004634302 0.9871738 0.975697 NA 0.01745419 NA FALSE NA 1 2.06 . synonymous_variant LOW NDRG1 HGNC 7679 ENST00000537882 12/15 1 NA GGT G,A 8.236e-06 8:133246640 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 synonymous_variant 0.732295 0.91945 0.90533 0.634777 0.466036 0 0.05382324 FALSE 4.06058e-06 ENSE00001653697_014 ENSE00001653697 014 8 134258803 134258972 - 56 48 66 C T 134258901 2084 72 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAATGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246657 133246658 133246658 exon 6 0.125 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAATGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 387 1126 0.9955062 0.9986365 0.9970713 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.03947777 0.003270808 0.9871738 0.975697 NA 0.02137429 NA FALSE NA 0.941 0.041 . synonymous_variant LOW NDRG1 HGNC 7679 ENST00000537882 12/15 rs368468160 1 NA T:0.0002 T:0 ACT C,T 1.647e-05 8:133246658 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 synonymous_variant 1.643534 0.91445 0.74158 0.634777 0.5540647 0 0.05382324 FALSE 2.03028e-05 ENSE00001653697_015 ENSE00001653697 015 8 134258803 134258972 - 56 48 66 C A 134258912 2085 61 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTTTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246668 133246669 133246669 upstr_intron -6 -0.07575758 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTTTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 1481 649 0.9982032 0.9983935 0.9982983 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04217479 0.003027804 0.9871738 0.975697 NA 0.0226013 NA FALSE NA 0 0.044 . splice_region_variant&intron_variant LOW NDRG1 HGNC 7679 ENST00000537882 11/14 1 NA ACA C,A 8.236e-06 8:133246669 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 splice_region_variant 0.791299 0.19995 0.27679 0.053691 0.649925 0.123869 0.05382324 FALSE 1.21819e-05 ENSE00001653697_016 ENSE00001653697 016 8 134258803 134258972 - 56 48 66 G A 134258918 2086 55 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCTCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246674 133246675 133246675 upstr_intron -12 -0.1666667 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCTCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 848 2015 0.9992209 0.8317096 0.9154652 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04319254 -0.1636561 0.9871738 0.975697 NA -0.0602318 NA FALSE NA 0 -0.32 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 11/14 rs368230609 1 NA A:0.0002 A:0 GGG G,A 8.237e-05 8:133246675 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.128332 0.17658 0.043 0.053691 0.5593187 0.0881274 0.05382324 FALSE 6.90339e-05 ENSE00001653697_017 ENSE00001653697 017 8 134258803 134258972 - 56 48 66 G A 134258929 2087 44 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAATAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246685 133246686 133246686 upstr_intron -23 -0.3333333 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAATAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 627 872 0.9994078 0.9975516 0.9984797 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04337939 0.002185877 0.9871738 0.975697 NA 0.02278263 NA FALSE NA 0 0.326 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 11/14 1 NA TGT G,A 8.236e-06 8:133246686 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.290235 0.1903 0.10534 0.053691 0.7155043 0.046875 0.05382324 FALSE 4.06081e-06 ENSE00001653697_018 ENSE00001653697 018 8 134258803 134258972 - 56 48 66 T C 134258937 2088 36 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGGAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246693 133246694 133246694 upstr_intron -31 -0.4545455 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGGAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 1588 2664 0.9514458 0.8709973 0.9112216 0.9877567 0.9865908 0.9560284 0.9953657 NA NA -0.004582542 -0.1243684 0.9871738 0.975697 NA -0.06447548 NA FALSE NA 0 -1.05 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 11/14 rs541244774 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTC T,C 1.647e-05 8:133246694 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.04835 0.18478 0.15256 0.053691 0.3904737 0.046875 0.05382324 FALSE 8.12156e-06 ENSE00001653697_019 ENSE00001653697 019 8 134258803 134258972 - 56 48 66 T C 134258939 2089 34 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTGGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246695 133246696 133246696 upstr_intron -33 -0.4848485 GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTGGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 200 230 1 1 1 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04397161 0.004634302 0.9871738 0.975697 NA 0.02430296 NA FALSE NA 0 -0.116 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 11/14 rs370084375 1 NA C:0.0007 C:0 CTA T,C 1.647e-05 8:133246696 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.423345 0.18597 0.12786 0.053691 0.7338058 0.046875 0.05382324 FALSE 8.1217e-06 ENSE00001653697_021 ENSE00001653697 021 8 134258803 134258972 - 56 48 66 T G 134258943 2091 30 GAAGGGGGAGATGTTTTGGCTTTGGCTTCCCGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 133246699 133246700 133246700 upstr_intron -37 -0.5454545 GAAGGGGGAGATGTTTTGGCTTTGGCTTCCCGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT mutant NA NA NA NA NA 1246 231 0.9989716 0.9888847 0.9939281 0.9877567 0.9865908 0.9560284 0.9953657 NA NA 0.04294321 -0.006481014 0.9871738 0.975697 NA 0.0182311 NA FALSE NA 0 -0.873 . intron_variant MODIFIER NDRG1 HGNC 7679 ENST00000537882 11/14 1 NA GTG T,G 1.647e-05 8:133246700 NDRG1 HGNC Symbol protein_coding 64851 ENSG00000104419 ENSE00003632772 intron_variant 0.163171 0.17461 0.18136 0.053691 0.5515532 0.0833221 0.05382324 FALSE 1.62442e-05 ENSE00001653697_BRK ENSE00001653697 BRK 8 134258803 134258972 - 56 48 66 A,G; T,T NA NA NA GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCTTGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGCCACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT 133246559 133246729 NA NA NA NA NA NA GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCTTGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGCCACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT GAAGGGGGAGATGTTTTGGCTTTGGCTTCACGTAGAAAATTAACAGATTTCCTCCCTCTTGTGCAGGTGGAGTGCAACTCAAAATTGGACCCAACAAAGACCACTCTCCTCAAGGTACAGGGAAAACAGTGGGGGTTCGTGTTTGTTATTTCTTAGAAACTCTCAGACGT control 34 49 0 0 0 147 93 0 0.01051653 0.005258266 0.9877567 0.9865908 0.9560284 0.9953657 -0.9877567 -0.9865908 -0.9560284 -0.9848492 0.9871738 0.975697 -0.9871738 -0.9704388 0.01673499 TRUE TRUE NA NA NA NA NA NDRG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NDRG1 NA NA NA ENSG00000104419 ENSE00003632772 NA NA NA NA NA NA NA 0.05382324 FALSE NA ENSE00001653953_000 ENSE00001653953 000 10 49444481 49444650 - 44 72 54 NA NA NA NA NA CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 NA NA NA NA NA NA CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG natural 111 70 0.9826662 0.9307101 0.9566882 1225 2069 0.9924127 0.937334 0.9648733 0.9826662 0.9307101 0.9924127 0.937334 0 0 0 0 0.9566882 0.9648733 0 0 0 FALSE FALSE NA NA NA NA NA FRMPD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMPD2 NA NA NA ENSG00000170324 ENSE00003526705 NA NA NA NA NA NA NA 1.174027e-15 FALSE NA ENSE00001653953_002 ENSE00001653953 002 10 49444481 49444650 - 44 72 54 C T 49444498 803 153 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGAATGGAGGGTGGCGAGGG 48236437 48236607 48236454 48236455 48236455 downstr_intron 27 1.627907 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGAATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 108 400 0.9862801 0.9688842 0.9775822 0.9826662 0.9307101 0.9924127 0.937334 NA NA -0.006132552 0.03155022 0.9566882 0.9648733 NA 0.01270884 NA FALSE NA 0 -0.26 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 9/28 1 NA TCC C,T 2.471e-05 10:48236455 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.736651 0.38684 0.04013 0.074636 0.7658461 0.120516 1.174027e-15 FALSE 2.8449e-05 ENSE00001653953_003 ENSE00001653953 003 10 49444481 49444650 - 44 72 54 G T 49444507 804 144 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGAATGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236463 48236464 48236464 downstr_intron 18 1.418605 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGAATGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 12 10 0.9944256 1 0.9972128 216 83 1 0.9923097 0.9961548 0.9826662 0.9307101 0.9924127 0.937334 0.01175933 0.06928986 0.007587322 0.05497568 0.9566882 0.9648733 0.0405246 0.0312815 0.009243096 FALSE FALSE 0 -1.153 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 9/28 1 NA AGT G,T 8.236e-06 10:48236464 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.253719 0.37053 0.0784 0.074636 0.7041102 0.154762 1.174027e-15 FALSE 4.0623e-06 ENSE00001653953_004 ENSE00001653953 004 10 49444481 49444650 - 44 72 54 G C 49444512 805 139 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGGTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236468 48236469 48236469 downstr_intron 13 1.302326 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGGTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 492 177 0.9937111 1 0.9968555 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.001298382 0.06266601 0.9566882 0.9648733 NA 0.0319822 NA FALSE NA 0.001 -0.281 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:48236469 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.025411 0.42209 0.05273 0.074636 0.5049108 0.154762 1.174027e-15 FALSE 4.06213e-06 ENSE00001653953_005 ENSE00001653953 005 10 49444481 49444650 - 44 72 54 G T 49444512 806 139 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGATAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236468 48236469 48236469 downstr_intron 13 1.302326 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGATAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 71 127 0.4540988 0.5385677 0.4963332 NA NA NA NA NA 0.9826662 0.9307101 0.9924127 0.937334 -0.5285675 -0.3921425 NA NA 0.9566882 0.9648733 -0.460355 NA NA NA FALSE 0.001 -0.281 NA NA NA FRMPD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMPD2 NA NA NA ENSG00000170324 ENSE00003526705 intron_variant 0.194655 0.41997 0.06657 0.074636 0.6086828 0.154762 1.174027e-15 FALSE 4.06213e-06 ENSE00001653953_006 ENSE00001653953 006 10 49444481 49444650 - 44 72 54 C T 49444514 807 137 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGAGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236470 48236471 48236471 downstr_intron 11 1.255814 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGAGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 115 151 0.85 0.8747707 0.8623854 241 47 0.9041342 0.8 0.8520671 0.9826662 0.9307101 0.9924127 0.937334 -0.1326662 -0.0559394 -0.08827847 -0.137334 0.9566882 0.9648733 -0.09430283 -0.1128062 0.0185034 FALSE FALSE 0 0.516 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 9/28 1 NA CCC C,T 4.118e-05 10:48236471 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.536485 0.38055 0.04914 0.074636 0.5679721 0.69643 1.174027e-15 FALSE 4.06204e-05 ENSE00001653953_007 ENSE00001653953 007 10 49444481 49444650 - 44 72 54 A G 49444519 808 132 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACCACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236475 48236476 48236476 downstr_intron 6 1.139535 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACCACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 76 157 0.85 0.85 0.85 NA NA NA NA NA 0.9826662 0.9307101 0.9924127 0.937334 -0.1326662 -0.08071014 NA NA 0.9566882 0.9648733 -0.1066882 NA NA NA FALSE 0.27 0.874 . splice_region_variant&intron_variant LOW FRMPD2 HGNC 28572 ENST00000374201 9/28 1 NA TAG A,G 1.647e-05 10:48236476 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 splice_region_variant -0.042984 0.37832 0.17119 0.074636 0.3720064 0.237204 1.174027e-15 FALSE 1.21851e-05 ENSE00001653953_008 ENSE00001653953 008 10 49444481 49444650 - 44 72 54 C A 49444527 809 124 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTTTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236483 48236484 48236484 exon -3 0.9722222 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTTTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 35 11 0.8418563 0.6941532 0.7680047 673 140 0.9888854 1 0.9944427 0.9826662 0.9307101 0.9924127 0.937334 -0.1408099 -0.236557 -0.003527298 0.06266601 0.9566882 0.9648733 -0.1886834 0.02956936 0.2182528 FALSE FALSE 0.999 0.829 . missense_variant&splice_region_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 1 tolerated(0.08) benign(0.368) NA ACA C,A 8.236e-06 10:48236484 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 2.713289 0.98017 0.74234 0.600919 0.8256981 0 1.174027e-15 FALSE 8.12367e-06 ENSE00001653953_009 ENSE00001653953 009 10 49444481 49444650 - 44 72 54 C T 49444531 810 120 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCAGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236487 48236488 48236488 exon -7 0.9166667 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCAGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 11 51 0.9955071 0.9216987 0.9586029 NA NA NA NA NA 0.9826662 0.9307101 0.9924127 0.937334 0.01284082 -0.009011404 NA NA 0.9566882 0.9648733 0.001914708 NA NA NA FALSE 0.019 -1.921 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:48236488 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 synonymous_variant 1.180496 0.08634 0.00393 0.600919 0.4070496 0 1.174027e-15 FALSE 5.28009e-05 ENSE00001653953_010 ENSE00001653953 010 10 49444481 49444650 - 44 72 54 C G 49444531 811 120 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCCGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236487 48236488 48236488 exon -7 0.9166667 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCCGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 99 181 1 0.9906571 0.9953286 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.007587322 0.05332312 0.9566882 0.9648733 NA 0.03045522 NA FALSE NA 0.019 -1.921 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMPD2 NA NA NA ENSG00000170324 ENSE00003526705 synonymous_variant 0.744605 0.1006 0.00559 0.600919 0.331453 0 1.174027e-15 FALSE 4.06161e-06 ENSE00001653953_011 ENSE00001653953 011 10 49444481 49444650 - 44 72 54 G A 49444532 812 119 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATTGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236488 48236489 48236489 exon -8 0.9027778 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATTGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 14 13 0.9923101 0.9568039 0.974557 147 292 1 0.981529 0.9907645 0.9826662 0.9307101 0.9924127 0.937334 0.009643871 0.0260938 0.007587322 0.04419501 0.9566882 0.9648733 0.01786883 0.02589117 0.008022332 FALSE FALSE 1 5.38 NA NA NA FRMPD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:48236489 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 5.683886 0.97588 0.9156 0.600919 0.9983976 0 1.174027e-15 FALSE 4.8742e-05 ENSE00001653953_013 ENSE00001653953 013 10 49444481 49444650 - 44 72 54 A C 49444533 814 118 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGAGCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236489 48236490 48236490 exon -9 0.8888889 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGAGCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 14 21 0.9899191 0.9636205 0.9767698 NA NA NA NA NA 0.9826662 0.9307101 0.9924127 0.937334 0.007252847 0.03291041 NA NA 0.9566882 0.9648733 0.02008163 NA NA NA FALSE 1 2.646 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 1 deleterious(0) benign(0.444) NA GAT A,C 1.647e-05 10:48236490 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 2.381876 0.95474 0.71778 0.600919 0.9935326 0 1.174027e-15 FALSE 1.21847e-05 ENSE00001653953_015 ENSE00001653953 015 10 49444481 49444650 - 44 72 54 G A 49444538 816 113 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCTGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236494 48236495 48236495 exon -14 0.8194444 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCTGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 191 99 0.9947113 0.9853438 0.9900276 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.002298652 0.04800981 0.9566882 0.9648733 NA 0.02515423 NA FALSE NA 1 3.829 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 rs561957692&COSM3382875 1 deleterious(0.02) possibly_damaging(0.885) A:0.0004 A:0 A:0 NA A:0.001 A:0 A:0.001 CGG G,A 3.295e-05 10:48236495 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 5.765635 0.98029 0.81466 0.600919 0.998527 0 1.174027e-15 FALSE 2.437e-05 ENSE00001653953_016 ENSE00001653953 016 10 49444481 49444650 - 44 72 54 A G 49444541 817 110 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCCGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236497 48236498 48236498 exon -17 0.7777778 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCCGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 250 82 1 1 1 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.007587322 0.06266601 0.9566882 0.9648733 NA 0.03512667 NA FALSE NA 1 5.09 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 1 deleterious(0) probably_damaging(0.999) NA CAG A,G 8.236e-06 10:48236498 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 5.127054 0.97596 0.92079 0.600919 0.9983365 0 1.174027e-15 FALSE 4.06134e-06 ENSE00001653953_017 ENSE00001653953 017 10 49444481 49444650 - 44 72 54 G A 49444550 818 101 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGATACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236506 48236507 48236507 exon -26 0.6527778 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGATACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 293 280 0.9949779 0.9956721 0.995325 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.002565261 0.05833814 0.9566882 0.9648733 NA 0.0304517 NA FALSE NA 0.963 1.113 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 1 tolerated(0.27) benign(0.012) NA TGT G,A 8.236e-06 10:48236507 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant -0.507898 0.40869 0.43699 0.600919 0.9277582 0 1.174027e-15 FALSE 1.62452e-05 ENSE00001653953_018 ENSE00001653953 018 10 49444481 49444650 - 44 72 54 A T 49444553 819 98 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGAAGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236509 48236510 48236510 exon -29 0.6111111 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGAAGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 295 581 0.9985966 0.9980897 0.9983432 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.006183879 0.06075576 0.9566882 0.9648733 NA 0.03346982 NA FALSE NA 1 2.503 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 rs372558925 1 deleterious(0) benign(0.006) NA T:0 T:0.0001 CAT A,T 8.236e-06 10:48236510 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 0.735437 0.51975 0.61604 0.600919 0.7032116 0 1.174027e-15 FALSE 4.06134e-06 ENSE00001653953_020 ENSE00001653953 020 10 49444481 49444650 - 44 72 54 C T 49444555 821 96 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCAATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236511 48236512 48236512 exon -31 0.5833333 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCAATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 37 58 0.85 0.9271724 0.8885862 NA NA NA NA NA 0.9826662 0.9307101 0.9924127 0.937334 -0.1326662 -0.003537713 NA NA 0.9566882 0.9648733 -0.06810198 NA NA NA FALSE 0 -4.219 rs116392343 synonymous_variant LOW FRMPD2 HGNC 28572 ENST00000374201 9/29 rs116392343 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 TCG C,T 0.0001483 10:48236512 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 synonymous_variant 0.825303 0.10739 0.00368 0.600919 0.4939623 0 1.174027e-15 FALSE 0.00011778 ENSE00001653953_021 ENSE00001653953 021 10 49444481 49444650 - 44 72 54 G A 49444556 822 95 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCTGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236512 48236513 48236513 exon -32 0.5694444 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCTGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 667 1228 0.9750371 0.9918564 0.9834467 0.9826662 0.9307101 0.9924127 0.937334 NA NA -0.01737562 0.05452243 0.9566882 0.9648733 NA 0.01857341 NA FALSE NA 1 5.38 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 COSM346266 1 tolerated(0.19) probably_damaging(0.999) NA CGG G,A 1.647e-05 10:48236513 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 2.688514 0.95889 0.88897 0.600919 0.9240975 0 1.174027e-15 FALSE 8.12282e-06 ENSE00001653953_022 ENSE00001653953 022 10 49444481 49444650 - 44 72 54 C T 49444560 823 91 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGACCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236516 48236517 48236517 exon -36 0.5138889 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGACCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 20 18 1 1 1 227 444 0.9996369 0.9956863 0.9976616 0.9826662 0.9307101 0.9924127 0.937334 0.01733375 0.06928986 0.007224172 0.05835235 0.9566882 0.9648733 0.04331181 0.03278826 0.01052354 FALSE FALSE 1 1.912 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 1 deleterious(0.03) possibly_damaging(0.827) NA GCC C,T 8.236e-06 10:48236517 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 6.157003 0.96067 0.59242 0.600919 0.9987103 0 1.174027e-15 FALSE 8.12269e-06 ENSE00001653953_023 ENSE00001653953 023 10 49444481 49444650 - 44 72 54 T G 49444578 824 73 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCCTCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236534 48236535 48236535 exon 19 0.2638889 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCCTCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 938 338 0.9985264 0.996549 0.9975377 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.00611372 0.05921504 0.9566882 0.9648733 NA 0.03266438 NA FALSE NA 0.001 -0.696 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 1 tolerated(0.25) benign(0) NA ATG T,G 0.0001071 10:48236535 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 1.145725 0.1942 0.01972 0.600919 0.9158292 0 1.174027e-15 FALSE 8.52896e-05 ENSE00001653953_024 ENSE00001653953 024 10 49444481 49444650 - 44 72 54 G C 49444592 825 59 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTGCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236548 48236549 48236549 exon 5 0.06944444 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTGCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 81 252 1 0.9943713 0.9971856 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.007587322 0.05703727 0.9566882 0.9648733 NA 0.0323123 NA FALSE NA 1 5.38 . missense_variant MODERATE FRMPD2 HGNC 28572 ENST00000374201 9/29 1 deleterious(0.03) probably_damaging(0.957) NA GGA G,C 1.647e-05 10:48236549 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 missense_variant 4.228578 0.98113 0.93442 0.553676 0.9885095 0 1.174027e-15 FALSE 1.21847e-05 ENSE00001653953_025 ENSE00001653953 025 10 49444481 49444650 - 44 72 54 C T 49444597 826 54 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAATTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236553 48236554 48236554 upstr_intron -1 0 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAATTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 17 13 1 0.9807937 0.9903968 NA NA NA NA NA 0.9826662 0.9307101 0.9924127 0.937334 0.01733375 0.05008356 NA NA 0.9566882 0.9648733 0.03370865 NA NA NA FALSE 1 2.788 rs190311980 splice_acceptor_variant HIGH FRMPD2 HGNC 28572 ENST00000374201 8/28 rs190311980 1 NA T:0 T:0.0001 HC ACT C,T 9.06e-05 10:48236554 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 splice_acceptor_variant 5.076509 0.98003 0.73976 0.074636 0.9945015 0.978846 1.174027e-15 FALSE 0.000146214 ENSE00001653953_026 ENSE00001653953 026 10 49444481 49444650 - 44 72 54 T C 49444598 827 53 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCGGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236554 48236555 48236555 upstr_intron -2 -0.01851852 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCGGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 49 21 0.9556023 0.9997476 0.977675 NA NA NA NA NA 0.9826662 0.9307101 0.9924127 0.937334 -0.02706395 0.06903751 NA NA 0.9566882 0.9648733 0.02098678 NA NA NA FALSE 1 4.364 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:48236555 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 splice_acceptor_variant 4.419318 0.97561 0.87723 0.057505 0.9891067 0.868025 1.174027e-15 FALSE 8.12315e-06 ENSE00001653953_027 ENSE00001653953 027 10 49444481 49444650 - 44 72 54 T G 49444598 828 53 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCCGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236554 48236555 48236555 upstr_intron -2 -0.01851852 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCCGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 120 93 0.02940711 0 0.01470356 0.9826662 0.9307101 0.9924127 0.937334 NA NA -0.9630056 -0.937334 0.9566882 0.9648733 NA -0.9501698 NA TRUE NA 1 4.364 NA NA NA FRMPD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMPD2 NA NA NA ENSG00000170324 ENSE00003526705 splice_acceptor_variant 4.64074 0.97633 0.89558 0.057505 0.9894399 0.868025 1.174027e-15 FALSE 8.12315e-06 ENSE00001653953_028 ENSE00001653953 028 10 49444481 49444650 - 44 72 54 C T 49444608 829 43 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTATTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236564 48236565 48236565 upstr_intron -12 -0.2037037 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTATTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 607 113 0.9876541 0.9979533 0.9928037 0.9826662 0.9307101 0.9924127 0.937334 NA NA -0.004758572 0.06061935 0.9566882 0.9648733 NA 0.02793039 NA FALSE NA 0 -0.966 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 8/28 rs547223846 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACA C,T 8.236e-06 10:48236565 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant -0.002336 0.15177 0.0101 0.061011 0.4852668 0.0689414 1.174027e-15 FALSE 8.12407e-06 ENSE00001653953_029 ENSE00001653953 029 10 49444481 49444650 - 44 72 54 G A 49444610 830 41 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGATTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236566 48236567 48236567 upstr_intron -14 -0.2407407 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGATTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 62 536 1 1 1 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.007587322 0.06266601 0.9566882 0.9648733 NA 0.03512667 NA FALSE NA 0.108 0.525 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 8/28 1 NA AGT G,A 8.237e-06 10:48236567 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.014452 0.20829 0.0386 0.061011 0.5046637 0.0698953 1.174027e-15 FALSE NA ENSE00001653953_030 ENSE00001653953 030 10 49444481 49444650 - 44 72 54 T C 49444616 831 35 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATGTGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236572 48236573 48236573 upstr_intron -20 -0.3518519 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATGTGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 288 80 0.9956327 0.9925298 0.9940813 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.003220033 0.05519582 0.9566882 0.9648733 NA 0.02920793 NA FALSE NA 0 -1.826 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 8/28 rs369175378 1 NA C:0.0005 C:0 ATA T,C 3.295e-05 10:48236573 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant -0.601778 0.12975 0.00999 0.061011 0.36606 0.0455939 1.174027e-15 FALSE 2.43766e-05 ENSE00001653953_031 ENSE00001653953 031 10 49444481 49444650 - 44 72 54 G A 49444619 832 32 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACTATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236575 48236576 48236576 upstr_intron -23 -0.4074074 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACTATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 11 11 0.9952744 1 0.9976372 92 225 1 0.9657728 0.9828864 0.9826662 0.9307101 0.9924127 0.937334 0.01260812 0.06928986 0.007587322 0.02843885 0.9566882 0.9648733 0.04094899 0.01801309 0.0229359 FALSE FALSE 0 -2.766 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:48236576 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.066746 0.09959 0.00492 0.061011 0.3343523 0.0455939 1.174027e-15 FALSE 4.06369e-06 ENSE00001653953_032 ENSE00001653953 032 10 49444481 49444650 - 44 72 54 G C 49444619 833 32 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACGATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236575 48236576 48236576 upstr_intron -23 -0.4074074 CCCAAAGCCTGGAATCTGTTGTCTTCTCTACGATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 96 97 1 0.9833363 0.9916681 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.007587322 0.04600227 0.9566882 0.9648733 NA 0.02679479 NA FALSE NA 0 -2.766 NA NA NA FRMPD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMPD2 NA NA NA ENSG00000170324 ENSE00003526705 intron_variant -0.377535 0.10809 0.01686 0.061011 0.3821459 0.0455939 1.174027e-15 FALSE 4.06369e-06 ENSE00001653953_033 ENSE00001653953 033 10 49444481 49444650 - 44 72 54 G A 49444625 834 26 CCCAAAGCCTGGAATCTGTTGTCTTTTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236581 48236582 48236582 upstr_intron -29 -0.5185185 CCCAAAGCCTGGAATCTGTTGTCTTTTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 310 1206 0.9934267 0.9845645 0.9889956 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.001014049 0.04723052 0.9566882 0.9648733 NA 0.02412229 NA FALSE NA 0 -0.193 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 8/28 1 NA AGA G,A 1.647e-05 10:48236582 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.162385 0.1541 0.01208 0.061011 0.5175892 0.0448725 1.174027e-15 FALSE 1.21972e-05 ENSE00001653953_034 ENSE00001653953 034 10 49444481 49444650 - 44 72 54 A G 49444626 835 25 CCCAAAGCCTGGAATCTGTTGTCTCCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236582 48236583 48236583 upstr_intron -30 -0.537037 CCCAAAGCCTGGAATCTGTTGTCTCCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant NA NA NA NA NA 92 30 1 1 1 0.9826662 0.9307101 0.9924127 0.937334 NA NA 0.007587322 0.06266601 0.9566882 0.9648733 NA 0.03512667 NA FALSE NA 0 -1.356 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 8/28 1 NA GAA A,G 4.942e-05 10:48236583 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.075913 0.14529 0.00735 0.061011 0.6577773 0.0448725 1.174027e-15 FALSE 5.28503e-05 ENSE00001653953_035 ENSE00001653953 035 10 49444481 49444650 - 44 72 54 C T 49444639 836 12 CCCAAAGCCTGAAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 48236595 48236596 48236596 upstr_intron -43 -0.7777778 CCCAAAGCCTGAAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG mutant 26 11 0.9897057 0.9802461 0.9849759 70 90 1 0.9688977 0.9844488 0.9826662 0.9307101 0.9924127 0.937334 0.007039459 0.04953596 0.007587322 0.03156366 0.9566882 0.9648733 0.02828771 0.01957549 0.008712217 FALSE FALSE 0 -0.278 . intron_variant MODIFIER FRMPD2 HGNC 28572 ENST00000374201 8/28 1 NA TCC C,T 8.237e-06 10:48236596 FRMPD2 HGNC Symbol protein_coding 121782 ENSG00000170324 ENSE00003526705 intron_variant 0.108223 0.16719 0.02172 0.061011 0.6635994 0.0448725 1.174027e-15 FALSE 4.07797e-06 ENSE00001653953_BRK ENSE00001653953 BRK 10 49444481 49444650 - 44 72 54 A,G; T,T NA NA NA CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCTTTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGCCAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG 48236437 48236607 NA NA NA NA NA NA CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCTTTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGCCAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG CCCAAAGCCTGGAATCTGTTGTCTTCTCTACCATATGTGACTGTTTTCCTCCAGTTTTCCAGGCCAGAGTTCATCCTGTTGGCTGGAGAGGCCCCGATGACACTACATCTGCCGGGATCGGTTGTGGTAACTACTGGGCTAGACTGGGCAGGGATGGAGGGTGGCGAGGG control 177 175 0 0.007450856 0.003725428 1396 1323 0.9523243 0.8303972 0.8913607 0.9826662 0.9307101 0.9924127 0.937334 -0.9826662 -0.9232593 -0.04008841 -0.1069368 0.9566882 0.9648733 -0.9529628 -0.07351258 0.8794502 FALSE TRUE NA NA NA NA NA FRMPD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMPD2 NA NA NA ENSG00000170324 ENSE00003526705 NA NA NA NA NA NA NA 1.174027e-15 FALSE NA ENSE00001654867_000 ENSE00001654867 000 7 50680408 50680577 - 30 99 41 NA NA NA NA NA ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 NA NA NA NA NA NA CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT natural 88 67 0.9980841 0.9968611 0.9974726 1682 1380 0.9251488 0.9942415 0.9596952 0.9980841 0.9968611 0.9251488 0.9942415 0 0 0 0 0.9974726 0.9596952 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRB10 NA NA NA ENSG00000106070 ENSE00001654867 NA NA NA NA NA NA NA 0.3674237 FALSE NA ENSE00001654867_001 ENSE00001654867 001 7 50680408 50680577 - 30 99 41 C T 50680421 1049 157 ACTCAACACAAACTGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612723 50612724 50612724 downstr_intron 17 1.586207 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCAGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 657 291 1 1 1 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07485123 0.005758451 0.9974726 0.9596952 NA 0.04030484 NA FALSE NA 0 -0.254 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:50612724 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 intron_variant -0.189692 0.08422 0.01411 0.156188 0.4084153 0.0540496 0.3674237 FALSE 2.44435e-05 ENSE00001654867_002 ENSE00001654867 002 7 50680408 50680577 - 30 99 41 C A 50680421 1050 157 ACTCAACACAAACAGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612723 50612724 50612724 downstr_intron 17 1.586207 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCTGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 219 185 1 1 1 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07485123 0.005758451 0.9974726 0.9596952 NA 0.04030484 NA FALSE NA 0 -0.254 NA NA NA GRB10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRB10 NA NA NA ENSG00000106070 ENSE00001654867 intron_variant -0.088543 0.09394 0.03484 0.156188 0.3656488 0.0540496 0.3674237 FALSE 4.07392e-06 ENSE00001654867_003 ENSE00001654867 003 7 50680408 50680577 - 30 99 41 G A 50680422 1051 156 ACTCAACACAAACCACAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612724 50612725 50612725 downstr_intron 16 1.551724 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGTGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 45 326 0.9555956 1 0.9777978 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.03044685 0.005758451 0.9974726 0.9596952 NA 0.01810265 NA FALSE NA 0 -1.775 . intron_variant MODIFIER GRB10 HGNC 4564 ENST00000406641 11/16 1 NA CGC G,A 4.124e-05 7:50612725 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 intron_variant -0.039246 0.14142 0.01833 0.156188 0.3127381 0.0540496 0.3674237 FALSE NA ENSE00001654867_009 ENSE00001654867 009 7 50680408 50680577 - 30 99 41 C G 50680480 1057 98 ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGGTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612782 50612783 50612783 exon -43 0.5757576 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGACCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 28 29 1 0.820018 0.910009 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07485123 -0.1742236 0.9974726 0.9596952 NA -0.04968617 NA FALSE NA 1 0.93 . missense_variant MODERATE GRB10 HGNC 4564 ENST00000406641 11/17 1 deleterious(0.01) benign(0.205) NA GCT C,G 8.253e-06 7:50612783 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 missense_variant 3.043338 0.9778 0.94394 0.722319 0.9937505 0 0.3674237 FALSE 4.06207e-06 ENSE00001654867_011 ENSE00001654867 011 7 50680408 50680577 - 30 99 41 C T 50680482 1059 96 ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTTGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612784 50612785 50612785 exon -45 0.5555556 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACAAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 55 31 1 1 1 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07485123 0.005758451 0.9974726 0.9596952 NA 0.04030484 NA FALSE NA 1 7.815 . missense_variant MODERATE GRB10 HGNC 4564 ENST00000406641 11/17 1 deleterious(0) possibly_damaging(0.784) NA TCG C,T 1.651e-05 7:50612785 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 missense_variant 6.75567 0.99479 0.99337 0.722319 0.9992692 0 0.3674237 FALSE 8.12427e-06 ENSE00001654867_014 ENSE00001654867 014 7 50680408 50680577 - 30 99 41 T C 50680512 1062 66 ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTCAGTTTCATTCCTGACTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612814 50612815 50612815 exon 25 0.2525253 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTGAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 1173 176 0.9966969 1 0.9983485 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07154817 0.005758451 0.9974726 0.9596952 NA 0.03865331 NA FALSE NA 1 8.038 . missense_variant MODERATE GRB10 HGNC 4564 ENST00000406641 11/17 1 deleterious(0) possibly_damaging(0.796) NA TTA T,C 8.263e-06 7:50612815 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 missense_variant 5.876159 0.99283 0.99264 0.722319 0.99848 0 0.3674237 FALSE 4.06332e-06 ENSE00001654867_015 ENSE00001654867 015 7 50680408 50680577 - 30 99 41 A G 50680526 1063 52 ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGGCTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612828 50612829 50612829 exon 11 0.1111111 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGCCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 229 251 1 0.9993694 0.9996847 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07485123 0.005127839 0.9974726 0.9596952 NA 0.03998953 NA FALSE NA 0.949 2.699 . missense_variant MODERATE GRB10 HGNC 4564 ENST00000406641 11/17 1 tolerated(1) benign(0.005) NA GAC A,G 8.268e-06 7:50612829 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 missense_variant 0.366179 0.52978 0.76985 0.722319 0.3996097 0 0.3674237 FALSE 4.0662e-06 ENSE00001654867_017 ENSE00001654867 017 7 50680408 50680577 - 30 99 41 G C 50680536 1065 42 ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGCCTACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612838 50612839 50612839 exon 1 0.01010101 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGGCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 227 413 1 0.9999078 0.9999539 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07485123 0.005666251 0.9974726 0.9596952 NA 0.04025874 NA FALSE NA 1 5.744 . missense_variant&splice_region_variant MODERATE GRB10 HGNC 4564 ENST00000406641 11/17 1 deleterious(0.02) benign(0.17) NA GGC G,C 2.481e-05 7:50612839 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 missense_variant 3.529143 0.98882 0.98737 0.722319 0.9916484 0 0.3674237 FALSE 1.22204e-05 ENSE00001654867_018 ENSE00001654867 018 7 50680408 50680577 - 30 99 41 G A 50680543 1066 35 ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGAAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612845 50612846 50612846 upstr_intron -7 -0.1463415 CCCTGTGTAACACTAACAGGACTTTCTTTTACCTTCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 391 130 1 0.9997067 0.9998534 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07485123 0.005465168 0.9974726 0.9596952 NA 0.0401582 NA FALSE NA 0.764 0.833 . splice_region_variant&intron_variant LOW GRB10 HGNC 4564 ENST00000406641 10/16 rs374085668 1 NA A:0 A:0.0001 GGA G,A 8.269e-06 7:50612846 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 splice_region_variant 0.784314 0.26765 0.32736 0.099367 0.5689374 0.238287 0.3674237 FALSE 4.08513e-06 ENSE00001654867_020 ENSE00001654867 020 7 50680408 50680577 - 30 99 41 G A 50680545 1068 33 ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGGAAGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 50612847 50612848 50612848 upstr_intron -9 -0.195122 CCCTGTGTAACACTAACAGGACTTTCTTTTACTTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 154 32 0.9980038 1 0.9990019 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07285507 0.005758451 0.9974726 0.9596952 NA 0.03930676 NA FALSE NA 0 -0.714 NA NA NA GRB10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:50612848 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 intron_variant 1.170453 0.23452 0.04612 0.099367 0.6841893 0.224056 0.3674237 FALSE 4.08878e-06 ENSE00001654867_022 ENSE00001654867 022 7 50680408 50680577 - 30 99 41 A C 50680564 1070 14 ACTCAACACAAACCGCAAGATGTCACATACCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGCTACAGGAGGTAAAAGAAAGTCCTGTTCGTGTTACACAGGG 50612710 50612880 50612866 50612867 50612867 upstr_intron -28 -0.6585366 CCCTGTGTAACACGAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT mutant NA NA NA NA NA 1371 28 0.9977267 1 0.9988634 0.9980841 0.9968611 0.9251488 0.9942415 NA NA 0.07257795 0.005758451 0.9974726 0.9596952 NA 0.0391682 NA FALSE NA 0.477 2.248 . intron_variant MODIFIER GRB10 HGNC 4564 ENST00000406641 10/16 1 NA TAG A,C 8.271e-06 7:50612867 GRB10 HGNC Symbol protein_coding 203399 ENSG00000106070 ENSE00001654867 intron_variant 0.06739 0.77576 0.55539 0.099367 0.7282738 0.0879324 0.3674237 FALSE 4.2885e-06 ENSE00001654867_BRK ENSE00001654867 BRK 7 50680408 50680577 - 30 99 41 A,G; T,T NA NA NA ACTCAACACAAACCGCAAGATGTCACATGGCTTGAGGAGTCTGAACGCTGTCATCCAGCACGTCCTGGTTTGCTCGTCCTCTGCACAGAGCAACCTCAGCTCTTTAGTTTCATTCCTGACTTTGTTTGGAAACAGGAGGTAAAAGAAAGTCCTGTTAGTGTTACACAGGG 50612710 50612880 NA NA NA NA NA NA CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTTTCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGCCATGTGACATCTTGCGGTTTGTGTTGAGT CCCTGTGTAACACTAACAGGACTTTCTTTTACCTCCTGTAGCCAAACAAAGTCAGGAATGAAACTAAAGAGCTGAGGTTGCTCTGTGCAGAGGACGAGCAAACCAGGACGTGCTGGATGACAGCGTTCAGACTCCTCAAGGTATGTGACATCTTGCGGTTTGTGTTGAGT control 183 181 0 0 0 NA NA NA NA NA 0.9980841 0.9968611 0.9251488 0.9942415 -0.9980841 -0.9968611 NA NA 0.9974726 0.9596952 -0.9974726 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001654867 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001654905_000 ENSE00001654905 000 Y 6953886 6954055 + 53 75 42 NA NA NA NA NA ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGCTGGCGTCCTGCTCGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC 7085844 7086014 NA NA NA NA NA NA ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGCTGGCGTCCTGCTCGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGCTGGCGTCCTGCTCGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC natural NA NA NA NA NA 755 1047 0.9747733 0.9874597 0.9811165 NA NA 0.9747733 0.9874597 NA NA 0 0 NA 0.9811165 NA 0 NA FALSE NA NA NA NA NA NA TBL1Y NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBL1Y NA NA NA ENSG00000092377 ENSE00001654905 NA NA NA NA NA NA NA NA NA NA ENSE00001654905_006 ENSE00001654905 006 Y 6953886 6954055 + 53 75 42 C T 6953981 13 96 ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGTTGGCGTCCTGCTCGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC 7085844 7086014 7085939 7085940 7085940 exon -33 0.5733333 ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGTTGGCGTCCTGCTCGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGCTGGCGTCCTGCTCGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC mutant NA NA NA NA NA 89 545 1 1 1 NA NA 0.9747733 0.9874597 NA NA 0.02522672 0.01254027 NA 0.9811165 NA 0.01888349 NA FALSE NA 1 2.432 . synonymous_variant LOW TBL1Y HGNC 18502 ENST00000383032 15/19 1 NA GCT .,T 2.865e-05 Y:7085940 TBL1Y HGNC Symbol protein_coding 180997 ENSG00000092377 ENSE00001654905 synonymous_variant 1.461193 0.76748 0.83251 0 0.8891576 0 NA NA 1.49303e-05 ENSE00001654905_008 ENSE00001654905 008 Y 6953886 6954055 + 53 75 42 C T 6953994 15 109 ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGCTGGCGTCCTGCTTGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC 7085844 7086014 7085952 7085953 7085953 exon -20 0.7466667 ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGCTGGCGTCCTGCTTGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC ATCTACTCACAGGTCCTGATATATTTTTCAAGAGACTCTCCGCTCTGTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCTTCTGGAATGTTGCTGGCGTCCTGCTCGGATGACATGACATTGAAGGTAGAGTCAGCATGGCAAGGGGTGGGCTGTTTAATCTCAGAC mutant NA NA NA NA NA 32 64 1 1 1 NA NA 0.9747733 0.9874597 NA NA 0.02522672 0.01254027 NA 0.9811165 NA 0.01888349 NA FALSE NA 1 6.872 . missense_variant MODERATE TBL1Y HGNC 18502 ENST00000383032 15/19 1 deleterious(0) possibly_damaging(0.636) NA TCG .,T 2.876e-05 Y:7085953 TBL1Y HGNC Symbol protein_coding 180997 ENSG00000092377 ENSE00001654905 missense_variant 6.164627 0.8558 0.94441 0 0.9964921 0 NA NA 1.49441e-05 ENSE00001654942_000 ENSE00001654942 000 1 23710795 23710964 - 44 72 54 NA NA NA NA NA TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 NA NA NA NA NA NA TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC natural 82 56 0.9761488 0.9974481 0.9867984 3355 1726 0.9280386 0.9978942 0.9629664 0.9761488 0.9974481 0.9280386 0.9978942 0 0 0 0 0.9867984 0.9629664 0 0 0 FALSE FALSE NA NA NA NA NA TCEA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TCEA3 NA NA NA ENSG00000204219 ENSE00003464044 NA NA NA NA NA NA NA 0.0009658859 FALSE NA ENSE00001654942_001 ENSE00001654942 001 1 23710795 23710964 - 44 72 54 A G 23710805 693 160 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTCATCCACATAC 23384301 23384471 23384311 23384312 23384312 downstr_intron 34 1.790698 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTCATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 637 233 0.9996765 0.9993206 0.9994986 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07163791 0.001426398 0.9867984 0.9629664 NA 0.03653216 NA FALSE NA 0 -0.1 rs605468 intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 10/10 rs605468 1 A:0.1482 G:0.7587 G:0.9308 NA G:0.9077 G:0.9145 G:0.7996 G:0.7941 G:0.9175 TAA G,G 0.898 1:23384312 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.094488 0.13877 0.01221 0.087844 0.6032714 0.110175 0.0009658859 FALSE 0.903276 ENSE00001654942_002 ENSE00001654942 002 1 23710795 23710964 - 44 72 54 G A 23710818 694 147 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTTCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384324 23384325 23384325 downstr_intron 21 1.488372 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTTCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 122 794 1 0.9970921 0.9985461 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07196139 -0.0008021059 0.9867984 0.9629664 NA 0.03557964 NA FALSE NA 0 0.414 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 10/10 rs572257870 1 NA GGA G,A 3.302e-05 1:23384325 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.375709 0.2946 0.08388 0.074388 0.7687432 0.100113 0.0009658859 FALSE 2.84497e-05 ENSE00001654942_003 ENSE00001654942 003 1 23710795 23710964 - 44 72 54 A G 23710820 695 145 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATCTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384326 23384327 23384327 downstr_intron 19 1.44186 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATCTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 3822 335 0.9985591 0.9995276 0.9990433 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07052044 0.001633381 0.9867984 0.9629664 NA 0.03607691 NA FALSE NA 0.01 0.423 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 10/10 1 NA AAA A,G 8.255e-06 1:23384327 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.176076 0.14875 0.0195 0.074388 0.6607418 0.122944 0.0009658859 FALSE 4.06372e-06 ENSE00001654942_004 ENSE00001654942 004 1 23710795 23710964 - 44 72 54 C T 23710824 696 141 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATATATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384330 23384331 23384331 downstr_intron 15 1.348837 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATATATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 672 773 0.9969622 0.9937052 0.9953337 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.06892358 -0.004189074 0.9867984 0.9629664 NA 0.03236725 NA FALSE NA 0 -2.871 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:23384331 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.178531 0.10975 0.00758 0.074388 0.7672511 0.134149 0.0009658859 FALSE 7.31392e-05 ENSE00001654942_005 ENSE00001654942 005 1 23710795 23710964 - 44 72 54 C A 23710824 697 141 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATTTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384330 23384331 23384331 downstr_intron 15 1.348837 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATTTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 634 310 0.978186 0.9994895 0.9888378 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.05014741 0.001595259 0.9867984 0.9629664 NA 0.02587134 NA FALSE NA 0 -2.871 NA NA NA TCEA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TCEA3 NA NA NA ENSG00000204219 ENSE00003464044 intron_variant 0.270843 0.17051 0.04346 0.074388 0.7183076 0.134149 0.0009658859 FALSE 4.06329e-06 ENSE00001654942_006 ENSE00001654942 006 1 23710795 23710964 - 44 72 54 A T 23710825 698 140 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTAAGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384331 23384332 23384332 downstr_intron 14 1.325581 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTAAGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 137 302 1 1 1 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07196139 0.00210577 0.9867984 0.9629664 NA 0.03703358 NA FALSE NA 0 -0.543 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 10/10 rs367701164 1 NA T:0 T:0.0001 CAT A,T 8.254e-06 1:23384332 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant -0.12298 0.26825 0.11388 0.074388 0.7125421 0.134149 0.0009658859 FALSE 4.06312e-06 ENSE00001654942_007 ENSE00001654942 007 1 23710795 23710964 - 44 72 54 T C 23710826 699 139 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTGTGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384332 23384333 23384333 downstr_intron 13 1.302326 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTGTGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 655 1193 1 0.9997348 0.9998674 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07196139 0.001840545 0.9867984 0.9629664 NA 0.03690097 NA FALSE NA 0 -0.875 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 10/10 1 NA ATA T,C 1.651e-05 1:23384333 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.018816 0.18789 0.00986 0.074388 0.487132 0.134149 0.0009658859 FALSE 1.6253e-05 ENSE00001654942_008 ENSE00001654942 008 1 23710795 23710964 - 44 72 54 C T 23710830 700 135 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATATTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384336 23384337 23384337 downstr_intron 9 1.209302 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATATTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 452 230 1 0.9886563 0.9943282 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07196139 -0.009237889 0.9867984 0.9629664 NA 0.03136175 NA FALSE NA 0.003 -0.126 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 10/10 1 NA ACA C,T 8.252e-06 1:23384337 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.534214 0.22576 0.06145 0.074388 0.7380297 0.254578 0.0009658859 FALSE 4.06293e-06 ENSE00001654942_009 ENSE00001654942 009 1 23710795 23710964 - 44 72 54 T A 23710832 701 133 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTTTGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384338 23384339 23384339 downstr_intron 7 1.162791 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTTTGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 771 464 0.9954051 1 0.9977026 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.06736653 0.00210577 0.9867984 0.9629664 NA 0.03473615 NA FALSE NA 0.926 1.051 rs115575061 splice_region_variant&intron_variant LOW TCEA3 HGNC 11615 ENST00000450454 10/10 rs115575061 1 A:0.0062 A:0.0212 A:0.0043 NA A:0 A:0 A:0 A:0.0199 A:0 ATA T,A 0.001543 1:23384339 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 splice_region_variant -0.014693 0.41006 0.22957 0.074388 0.6108596 0.262323 0.0009658859 FALSE 0.00130821 ENSE00001654942_011 ENSE00001654942 011 1 23710795 23710964 - 44 72 54 C T 23710846 703 119 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCACTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384352 23384353 23384353 exon -8 0.9027778 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCACTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 349 420 0.9942823 1 0.9971412 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.0662437 0.00210577 0.9867984 0.9629664 NA 0.03417474 NA FALSE NA 1 7.801 . missense_variant MODERATE TCEA3 HGNC 11615 ENST00000450454 10/11 1 deleterious(0) probably_damaging(0.958) NA GCG C,T 1.65e-05 1:23384353 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 missense_variant 8.24007 0.97642 0.95572 0.549168 0.9995182 0 0.0009658859 FALSE 1.62499e-05 ENSE00001654942_012 ENSE00001654942 012 1 23710795 23710964 - 44 72 54 A G 23710860 704 105 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAACGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384366 23384367 23384367 exon -22 0.7083333 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAACGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 380 937 0.9816544 0.9952443 0.9884493 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.0536158 -0.002649947 0.9867984 0.9629664 NA 0.02548292 NA FALSE NA 0.993 0.535 . synonymous_variant LOW TCEA3 HGNC 11615 ENST00000450454 10/11 1 NA CAT A,G 8.248e-06 1:23384367 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 synonymous_variant 0.704783 0.92011 0.6073 0.653281 0.7446199 0 0.0009658859 FALSE 4.062e-06 ENSE00001654942_013 ENSE00001654942 013 1 23710795 23710964 - 44 72 54 G A 23710863 705 102 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGTAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384369 23384370 23384370 exon -25 0.6666667 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGTAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 163 260 0.9875364 1 0.9937682 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.05949782 0.00210577 0.9867984 0.9629664 NA 0.03080179 NA FALSE NA 1 2.57 . synonymous_variant LOW TCEA3 HGNC 11615 ENST00000450454 10/11 1 NA TGC G,A 2.474e-05 1:23384370 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 synonymous_variant 0.921105 0.93068 0.82587 0.653281 0.8285994 0 0.0009658859 FALSE 2.43784e-05 ENSE00001654942_014 ENSE00001654942 014 1 23710795 23710964 - 44 72 54 C T 23710864 706 101 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATACAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384370 23384371 23384371 exon -26 0.6527778 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATACAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 480 1454 0.9989666 0.998514 0.9987403 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07092798 0.000619744 0.9867984 0.9629664 NA 0.03577386 NA FALSE NA 1 7.801 . missense_variant MODERATE TCEA3 HGNC 11615 ENST00000450454 10/11 1 deleterious(0) probably_damaging(1) NA GCA C,T 8.248e-06 1:23384371 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 missense_variant 6.804011 0.97642 0.95572 0.653281 0.9980649 0 0.0009658859 FALSE 4.0624e-06 ENSE00001654942_016 ENSE00001654942 016 1 23710795 23710964 - 44 72 54 G T 23710869 708 96 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTATTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384375 23384376 23384376 exon -31 0.5833333 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTATTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 569 3720 1 0.9953307 0.9976654 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07196139 -0.002563495 0.9867984 0.9629664 NA 0.03469895 NA FALSE NA 0.994 0.595 . synonymous_variant LOW TCEA3 HGNC 11615 ENST00000450454 10/11 1 NA AGA G,T 8.247e-06 1:23384376 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 synonymous_variant 1.121135 0.93789 0.80115 0.653281 0.822059 0 0.0009658859 FALSE NA ENSE00001654942_017 ENSE00001654942 017 1 23710795 23710964 - 44 72 54 G C 23710885 709 80 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCGCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384391 23384392 23384392 exon 26 0.3611111 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCGCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 165 131 1 1 1 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07196139 0.00210577 0.9867984 0.9629664 NA 0.03703358 NA FALSE NA 1 9.847 . missense_variant MODERATE TCEA3 HGNC 11615 ENST00000450454 10/11 1 deleterious(0) probably_damaging(0.998) NA GGG G,C 8.247e-06 1:23384392 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 missense_variant 5.762566 0.96759 0.96942 0.653281 0.9985432 0 0.0009658859 FALSE 4.06445e-06 ENSE00001654942_018 ENSE00001654942 018 1 23710795 23710964 - 44 72 54 G T 23710913 710 52 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTAAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384419 23384420 23384420 upstr_intron -3 -0.03703704 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTAAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 338 137 0.9998782 1 0.9999391 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07183957 0.00210577 0.9867984 0.9629664 NA 0.03697267 NA FALSE NA 0.32 1.254 . splice_region_variant&intron_variant LOW TCEA3 HGNC 11615 ENST00000450454 9/10 1 NA TGA G,T 8.252e-06 1:23384420 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 splice_region_variant 1.863959 0.9447 0.88776 0.074388 0.9260982 0.498096 0.0009658859 FALSE NA ENSE00001654942_019 ENSE00001654942 019 1 23710795 23710964 - 44 72 54 C T 23710932 711 33 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATAAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384438 23384439 23384439 upstr_intron -22 -0.3888889 TGGCAGGTCCTAGAACAGGGGAGTGACTTCATAAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 34 152 1 1 1 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07196139 0.00210577 0.9867984 0.9629664 NA 0.03703358 NA FALSE NA 0 0.197 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 9/10 1 NA TCA C,T 8.256e-06 1:23384439 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.875191 0.32012 0.31349 0.074388 0.6780309 0.113428 0.0009658859 FALSE 4.10772e-06 ENSE00001654942_021 ENSE00001654942 021 1 23710795 23710964 - 44 72 54 G C 23710938 713 27 TGGCAGGTCCTAGAACAGGGGAGTGAGTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384444 23384445 23384445 upstr_intron -28 -0.5 TGGCAGGTCCTAGAACAGGGGAGTGAGTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 1232 460 0.9716096 0.9950168 0.9833132 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.043571 -0.002877424 0.9867984 0.9629664 NA 0.02034679 NA FALSE NA 0 -0.008 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 9/10 1 NA AGT G,C 8.258e-06 1:23384445 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant -0.147005 0.25881 0.22661 0.074388 0.6495919 0.137752 0.0009658859 FALSE 4.12062e-06 ENSE00001654942_022 ENSE00001654942 022 1 23710795 23710964 - 44 72 54 C G 23710945 714 20 TGGCAGGTCCTAGAACAGGCGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384451 23384452 23384452 upstr_intron -35 -0.6296296 TGGCAGGTCCTAGAACAGGCGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 320 1425 0.9936315 0.9998128 0.9967222 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.06559286 0.001918606 0.9867984 0.9629664 NA 0.03375573 NA FALSE NA 0 -2.196 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 9/10 1 NA CCC C,G 8.26e-06 1:23384452 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.238245 0.21419 0.16344 0.074388 0.4683 0.139162 0.0009658859 FALSE 4.15079e-06 ENSE00001654942_023 ENSE00001654942 023 1 23710795 23710964 - 44 72 54 C T 23710946 715 19 TGGCAGGTCCTAGAACAGAGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 23384452 23384453 23384453 upstr_intron -36 -0.6481481 TGGCAGGTCCTAGAACAGAGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC mutant NA NA NA NA NA 344 259 1 0.998217 0.9991085 0.9761488 0.9974481 0.9280386 0.9978942 NA NA 0.07196139 0.0003227954 0.9867984 0.9629664 NA 0.03614209 NA FALSE NA 0 -0.135 . intron_variant MODIFIER TCEA3 HGNC 11615 ENST00000450454 9/10 1 NA CCC C,T 8.26e-06 1:23384453 TCEA3 HGNC Symbol protein_coding 43679 ENSG00000204219 ENSE00003464044 intron_variant 0.055317 0.20836 0.22151 0.074388 0.486883 0.139162 0.0009658859 FALSE NA ENSE00001654942_BRK ENSE00001654942 BRK 1 23710795 23710964 - 44 72 54 A,G; T,T NA NA NA TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCTTGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGCCCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC 23384301 23384471 NA NA NA NA NA NA TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCTTGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGCCCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC TGGCAGGTCCTAGAACAGGGGAGTGACTTCATGAGTGGTTCTTCTCTCTCTCAGGTGCAGACACGCAGTGCTGATGAGCCCATGACTACCTTTGTCTTATGCAATGAATGTGGCAATCGCTGGAAGGTCTGTATGTTTATGTATTTCCCCCTTCCCTGTTATCCACATAC control NA NA NA NA NA 829 66 0.1413612 0.1408868 0.141124 0.9761488 0.9974481 0.9280386 0.9978942 NA NA -0.7866774 -0.8570075 0.9867984 0.9629664 NA -0.8218424 NA TRUE NA NA NA NA NA NA TCEA3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TCEA3 NA NA NA ENSG00000204219 ENSE00003464044 NA NA NA NA NA NA NA 0.0009658859 FALSE NA ENSE00001655129_000 ENSE00001655129 000 7 7491905 7492074 - 45 69 56 NA NA NA NA NA TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 NA NA NA NA NA NA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA natural 44 53 0.9959215 0.9713632 0.9836424 8883 8056 0.9746081 0.9146739 0.944641 0.9959215 0.9713632 0.9746081 0.9146739 0 0 0 0 0.9836424 0.944641 0 0 0 FALSE FALSE NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003587205 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001655129_001 ENSE00001655129 001 7 7491905 7492074 - 45 69 56 G A 7491916 488 159 TGTTACATAAAATATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452284 7452285 7452285 downstr_intron 34 1.772727 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATATTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1016 1283 0.8367175 0.9484503 0.8925839 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.1378906 0.03377637 0.9836424 0.944641 NA -0.05205714 NA FALSE NA 0.002 0.838 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 18/34 1 NA AGT G,A 8.275e-06 7:7452285 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant -0.040508 0.16422 0.02498 0.061011 0.3851963 0.0502809 1.893035e-20 FALSE 4.49039e-06 ENSE00001655129_002 ENSE00001655129 002 7 7491905 7492074 - 45 69 56 T C 7491931 489 144 TGTTACATAAAGTATCATATCACTTCCGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452299 7452300 7452300 downstr_intron 19 1.431818 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCGGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 363 584 1 0.9988844 0.9994422 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02539186 0.08421052 0.9836424 0.944641 NA 0.05480119 NA FALSE NA 0 0.167 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 18/34 1 NA CTG T,C 8.276e-06 7:7452300 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant 0.002494 0.15416 0.02166 0.061011 0.6027727 0.102212 1.893035e-20 FALSE NA ENSE00001655129_004 ENSE00001655129 004 7 7491905 7492074 - 45 69 56 A C 7491933 491 142 TGTTACATAAAGTATCATATCACTTCTGCGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452301 7452302 7452302 downstr_intron 17 1.386364 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCGCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 588 2251 0.9984707 0.9979352 0.9982029 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02386256 0.08326127 0.9836424 0.944641 NA 0.05356192 NA FALSE NA 0.003 2.243 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7452302 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant 0.066413 0.34029 0.3304 0.061011 0.6221038 0.592567 1.893035e-20 FALSE 4.35388e-06 ENSE00001655129_005 ENSE00001655129 005 7 7491905 7492074 - 45 69 56 A T 7491933 492 142 TGTTACATAAAGTATCATATCACTTCTGTGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452301 7452302 7452302 downstr_intron 17 1.386364 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCACAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 468 3170 0.9950609 0.9983504 0.9967056 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02045277 0.08367647 0.9836424 0.944641 NA 0.05206462 NA FALSE NA 0.003 2.243 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003587205 intron_variant 0.186538 0.33779 0.32432 0.061011 0.6069779 0.592567 1.893035e-20 FALSE 4.35388e-06 ENSE00001655129_006 ENSE00001655129 006 7 7491905 7492074 - 45 69 56 G A 7491937 493 138 TGTTACATAAAGTATCATATCACTTCTGAGCAACAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452305 7452306 7452306 downstr_intron 13 1.295455 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGTTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 5265 1370 0.8803794 0.9979965 0.9391879 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.09422874 0.08332254 0.9836424 0.944641 NA -0.005453099 NA FALSE NA 0 -0.076 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 18/34 1 NA AGC G,A 8.276e-06 7:7452306 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant 0.010954 0.13638 0.03087 0.061011 0.5099424 0.162092 1.893035e-20 FALSE NA ENSE00001655129_007 ENSE00001655129 007 7 7491905 7492074 - 45 69 56 C A 7491950 494 125 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACATTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452318 7452319 7452319 exon -1 1 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAATGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 651 1524 0.008364682 0.0009957873 0.004680234 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.9662435 -0.9136781 0.9836424 0.944641 NA -0.9399608 NA TRUE NA 1 1.132 . missense_variant&splice_region_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 18/35 1 deleterious(0) probably_damaging(0.999) NA CCT C,A 8.276e-06 7:7452319 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant 7.099802 0.98235 0.78549 0.553676 0.9988167 0 1.893035e-20 FALSE 4.23549e-06 ENSE00001655129_009 ENSE00001655129 009 7 7491905 7492074 - 45 69 56 G A 7491954 496 121 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTAGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452322 7452323 7452323 exon -5 0.942029 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCTAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 935 127 0.9984492 1 0.9992246 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02384109 0.08532609 0.9836424 0.944641 NA 0.05458359 NA FALSE NA 1 4.045 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 18/35 1 tolerated(0.4) probably_damaging(1) NA TGG G,A 8.276e-06 7:7452323 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant 5.466976 0.9828 0.9097 0.553676 0.9957348 0 1.893035e-20 FALSE NA ENSE00001655129_010 ENSE00001655129 010 7 7491905 7492074 - 45 69 56 G C 7491955 497 120 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGCACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452323 7452324 7452324 exon -6 0.9275362 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTGCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 201 1459 1 1 1 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02539186 0.08532609 0.9836424 0.944641 NA 0.05535897 NA FALSE NA 1 2.604 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 18/35 1 tolerated(0.26) probably_damaging(0.999) NA GGA G,C 8.276e-06 7:7452324 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant 3.497589 0.97101 0.86213 0.553676 0.9838842 0 1.893035e-20 FALSE 1.27057e-05 ENSE00001655129_011 ENSE00001655129 011 7 7491905 7492074 - 45 69 56 G C 7491961 498 114 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTCTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452329 7452330 7452330 exon -12 0.8405797 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTAGAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1206 128 0.9366631 0.9960388 0.966351 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.037945 0.08136486 0.9836424 0.944641 NA 0.02170993 NA FALSE NA 0.987 2.559 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 18/35 rs565849104 1 tolerated(0.1) probably_damaging(0.988) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TGT G,C 8.276e-06 7:7452330 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant 4.296353 0.9786 0.86032 0.553676 0.9896141 0 1.893035e-20 FALSE 4.2249e-06 ENSE00001655129_014 ENSE00001655129 014 7 7491905 7492074 - 45 69 56 C G 7491976 501 99 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCAGTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452344 7452345 7452345 exon -27 0.6231884 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCACTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1520 162 0.989886 1 0.994943 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.01527782 0.08532609 0.9836424 0.944641 NA 0.05030196 NA FALSE NA 0.121 -0.547 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 18/35 COSM3923957 1 tolerated(0.75) benign(0.058) NA ACT C,G 8.276e-06 7:7452345 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant 1.269899 0.17099 0.01936 0.553676 0.8948019 0 1.893035e-20 FALSE 8.38828e-06 ENSE00001655129_016 ENSE00001655129 016 7 7491905 7492074 - 45 69 56 G T 7491979 503 96 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGTTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452347 7452348 7452348 exon -30 0.5797101 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGAACAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1655 3031 0.9198195 0.998857 0.9593383 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.05478859 0.08418313 0.9836424 0.944641 NA 0.01469727 NA FALSE NA 0.972 4.045 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 18/35 1 tolerated(0.3) possibly_damaging(0.8) NA GGT G,T 8.276e-06 7:7452348 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant 4.363909 0.97552 0.89251 0.553676 0.9970636 0 1.893035e-20 FALSE NA ENSE00001655129_017 ENSE00001655129 017 7 7491905 7492074 - 45 69 56 T A 7491980 504 95 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGTCCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA 7452273 7452443 7452348 7452349 7452349 exon -31 0.5652174 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGTCCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 260 783 0.8901107 0.8021182 0.8461145 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.08449746 -0.1125557 0.9836424 0.944641 NA -0.09852656 NA FALSE NA 0.966 -0.042 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 18/35 rs576651457 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GTC T,A 8.276e-06 7:7452349 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 synonymous_variant 1.193111 0.94802 0.62539 0.553676 0.7399501 0 1.893035e-20 FALSE 4.19498e-06 ENSE00001655129_018 ENSE00001655129 018 7 7491905 7492074 - 45 69 56 C T 7491981 505 94 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTTCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452349 7452350 7452350 exon -32 0.5507246 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGAACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 2004 461 0.9996092 0.999574 0.9995916 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02500102 0.08490006 0.9836424 0.944641 NA 0.05495054 NA FALSE NA 0.996 1.869 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 18/35 1 deleterious(0) probably_damaging(1) NA TCC C,T 8.277e-06 7:7452350 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant 6.579275 0.97761 0.76544 0.553676 0.9975363 0 1.893035e-20 FALSE 4.2072e-06 ENSE00001655129_019 ENSE00001655129 019 7 7491905 7492074 - 45 69 56 G A 7491985 506 90 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCAAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452353 7452354 7452354 exon 34 0.4927536 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTTGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 89 31 0.9251464 0.9381227 0.9316346 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.04946173 0.02344882 0.9836424 0.944641 NA -0.01300645 NA FALSE NA 1 0.696 . stop_gained HIGH COL28A1 HGNC 22442 ENST00000399429 18/35 1 NA HC CGA G,A 8.277e-06 7:7452354 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 stop_gained 11.03814 0.95916 0.41495 0.553676 0.9963252 0 1.893035e-20 FALSE 1.26295e-05 ENSE00001655129_022 ENSE00001655129 022 7 7491905 7492074 - 45 69 56 G C 7491996 509 79 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTACGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452364 7452365 7452365 exon 23 0.3333333 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACGTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 325 1202 0.9987268 0.9989804 0.9988536 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02411867 0.08430645 0.9836424 0.944641 NA 0.05421256 NA FALSE NA 0.946 1.078 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7452365 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant 3.718427 0.97458 0.7332 0.553676 0.9555746 0 1.893035e-20 FALSE 0.00358164 ENSE00001655129_023 ENSE00001655129 023 7 7491905 7492074 - 45 69 56 G A 7491996 510 79 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAAGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452364 7452365 7452365 exon 23 0.3333333 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACTTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1779 1137 0.9940878 0.9998274 0.9969576 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.01947965 0.08515346 0.9836424 0.944641 NA 0.05231655 NA FALSE NA 0.946 1.078 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003587205 missense_variant 3.286473 0.97321 0.66966 0.553676 0.9398934 0 1.893035e-20 FALSE 8.55827e-06 ENSE00001655129_024 ENSE00001655129 024 7 7491905 7492074 - 45 69 56 T C 7492003 511 72 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCACTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452371 7452372 7452372 exon 16 0.2318841 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAGTGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 772 732 0.9963177 0.9955392 0.9959285 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02170957 0.08086528 0.9836424 0.944641 NA 0.05128742 NA FALSE NA 0.059 0.085 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 18/35 1 tolerated(0.43) benign(0.001) NA ATT T,C 8.277e-06 7:7452372 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 missense_variant -0.073564 0.17226 0.01866 0.553676 0.418363 0 1.893035e-20 FALSE 4.33219e-06 ENSE00001655129_025 ENSE00001655129 025 7 7491905 7492074 - 45 69 56 T A 7492020 512 55 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTTGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA 7452273 7452443 7452388 7452389 7452389 upstr_intron -2 -0.01785714 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTTGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1487 612 0.009585996 0.02283632 0.01621116 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.9650221 -0.8918376 0.9836424 0.944641 NA -0.9284299 NA TRUE NA 0.982 3.289 . splice_acceptor_variant HIGH COL28A1 HGNC 22442 ENST00000399429 17/34 1 NA HC CTA T,A 8.278e-06 7:7452389 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 splice_acceptor_variant 3.572023 0.96522 0.83599 0.074636 0.9815121 0.96596 1.893035e-20 FALSE 8.8987e-06 ENSE00001655129_026 ENSE00001655129 026 7 7491905 7492074 - 45 69 56 G T 7492031 513 44 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAATAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452399 7452400 7452400 upstr_intron -13 -0.2142857 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTATTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 779 1595 0.9938454 0.9915017 0.9926736 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.01923727 0.0768278 0.9836424 0.944641 NA 0.04803253 NA FALSE NA 0.998 1.208 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7452400 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant -0.165078 0.27234 0.51352 0.061011 0.5754845 0.221262 1.893035e-20 FALSE 1.80973e-05 ENSE00001655129_027 ENSE00001655129 027 7 7491905 7492074 - 45 69 56 G C 7492031 514 44 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAACAGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452399 7452400 7452400 upstr_intron -13 -0.2142857 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTGTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 5062 2359 0.9745091 0.9886407 0.9815749 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -9.908573e-05 0.07396682 0.9836424 0.944641 NA 0.03693387 NA FALSE NA 0.998 1.208 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003587205 intron_variant -0.310403 0.27586 0.53815 0.061011 0.596324 0.221262 1.893035e-20 FALSE 1.35729e-05 ENSE00001655129_028 ENSE00001655129 028 7 7491905 7492074 - 45 69 56 A G 7492032 515 43 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGGGTTTAATACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452400 7452401 7452401 upstr_intron -14 -0.2321429 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACCCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 753 553 0.9582534 0.9561739 0.9572136 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.01635474 0.04149995 0.9836424 0.944641 NA 0.01257261 NA FALSE NA 0.986 2.416 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 17/34 1 NA GAG A,G 1.656e-05 7:7452401 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant -0.574732 0.16589 0.40243 0.061011 0.5871231 0.160576 1.893035e-20 FALSE 3.23424e-05 ENSE00001655129_029 ENSE00001655129 029 7 7491905 7492074 - 45 69 56 A G 7492038 516 37 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAGTACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452406 7452407 7452407 upstr_intron -20 -0.3392857 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTACTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1862 506 0.9555141 0.9934214 0.9744677 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.01909409 0.07874752 0.9836424 0.944641 NA 0.02982672 NA FALSE NA 0 -0.93 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 17/34 1 NA AAT A,G 5.794e-05 7:7452407 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant -0.188233 0.13969 0.01951 0.061011 0.5125754 0.222249 1.893035e-20 FALSE 6.06179e-05 ENSE00001655129_030 ENSE00001655129 030 7 7491905 7492074 - 45 69 56 T C 7492039 517 36 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAACACAGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452407 7452408 7452408 upstr_intron -21 -0.3571429 ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTGTTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1891 1438 0.9049038 0.9908624 0.9478831 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.06970436 0.07618848 0.9836424 0.944641 NA 0.003242058 NA FALSE NA 0 -0.582 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 17/34 rs376599205 1 NA C:0 C:0.0001 ATA T,C 8.278e-06 7:7452408 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant -0.13585 0.15826 0.04043 0.061011 0.6604198 0.160576 1.893035e-20 FALSE 4.66444e-06 ENSE00001655129_031 ENSE00001655129 031 7 7491905 7492074 - 45 69 56 A G 7492042 518 33 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACGGCAGCAAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452410 7452411 7452411 upstr_intron -24 -0.4107143 ACAGCAGGAATATATTATTTTCACTTTGCTGCCGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 2471 1657 0.9985588 0.998493 0.9985259 0.9959215 0.9713632 0.9746081 0.9146739 NA NA 0.02395069 0.0838191 0.9836424 0.944641 NA 0.0538849 NA FALSE NA 0 0.737 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 17/34 1 NA CAG A,G 8.278e-06 7:7452411 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant 0.013905 0.132 0.02281 0.061011 0.6999383 0.160576 1.893035e-20 FALSE 4.8514e-06 ENSE00001655129_032 ENSE00001655129 032 7 7491905 7492074 - 45 69 56 A G 7492048 519 27 TGTTACATAAAGTATCATATCACTTCTGAGCAGCAGTCAACTCACCTTTGGACCTTGTACTCCAATTCCCACTGGTCCTCGAGGGCCTGTAGGTCCCATTTGGCCTACTTCTCCCTAGTAAGAAAAGAGTTTAATACAGCAGCGAAGTGAAAATAATATATTCCTGCTGT 7452273 7452443 7452416 7452417 7452417 upstr_intron -30 -0.5178571 ACAGCAGGAATATATTATTTTCACTTCGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA mutant NA NA NA NA NA 1026 452 0.9625775 0.9956317 0.9791046 0.9959215 0.9713632 0.9746081 0.9146739 NA NA -0.01203062 0.08095776 0.9836424 0.944641 NA 0.03446357 NA FALSE NA 0.002 1.312 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 17/34 1 NA CAA A,G 8.278e-06 7:7452417 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003587205 intron_variant 0.346089 0.37994 0.132 0.061011 0.7293645 0.65276 1.893035e-20 FALSE 9.71242e-06 ENSE00001655129_BRK ENSE00001655129 BRK 7 7491905 7492074 - 45 69 56 A,G; T,T NA NA NA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTTTGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGCCGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA 7452273 7452443 NA NA NA NA NA NA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTTTGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGCCGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA ACAGCAGGAATATATTATTTTCACTTTGCTGCTGTATTAAACTCTTTTCTTACTAGGGAGAAGTAGGCCAAATGGGACCTACAGGCCCTCGAGGACCAGTGGGAATTGGAGTACAAGGTCCAAAGGTGAGTTGACTGCTGCTCAGAAGTGATATGATACTTTATGTAACA control 184 60 0 0 0 793 1062 0.002661027 0.0003012048 0.001481116 0.9959215 0.9713632 0.9746081 0.9146739 -0.9959215 -0.9713632 -0.9719471 -0.9143727 0.9836424 0.944641 -0.9836424 -0.9431599 0.04048246 TRUE TRUE NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003587205 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001655385_000 ENSE00001655385 000 9 137653708 137653877 + 63 54 53 NA NA NA NA NA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA 134761861 134762031 NA NA NA NA NA NA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA natural 14 23 0.8515529 0.7585719 0.8050624 918 1079 0.9297765 0.9915059 0.9606412 0.8515529 0.7585719 0.9297765 0.9915059 0 0 0 0 0.8050624 0.9606412 0 0 0 FALSE FALSE NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001655385 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001655385_005 ENSE00001655385 005 9 137653708 137653877 + 63 54 53 C A 137653736 3595 29 ACCTTGGACAAGCCCTGCATGACCTGCTAAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA 134761861 134762031 134761889 134761890 134761890 upstr_intron -35 -0.5396825 ACCTTGGACAAGCCCTGCATGACCTGCTAAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA mutant NA NA NA NA NA 28 67 1 0.9871065 0.9935532 0.8515529 0.7585719 0.9297765 0.9915059 NA NA 0.07022346 -0.004399429 0.8050624 0.9606412 NA 0.03291201 NA FALSE NA 0 -0.319 rs10858278 intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 18/65 rs10858278 1 A:0.2101 A:0.3464 A:0.2262 NA A:0.2808 A:0.0408 A:0.1155 A:0.2805 A:0.0417 TCA C 0.113 9:134761890 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001655385 intron_variant 0.263625 0.15965 0.04895 0.062308 0.6849044 0.118391 1 TRUE 0.114221 ENSE00001655385_011 ENSE00001655385 011 9 137653708 137653877 + 63 54 53 G T 137653753 3601 46 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTTACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA 134761861 134762031 134761906 134761907 134761907 upstr_intron -18 -0.2698413 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTTACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA mutant NA NA NA NA NA 1673 13 0.9471394 1 0.9735697 0.8515529 0.7585719 0.9297765 0.9915059 NA NA 0.01736283 0.008494097 0.8050624 0.9606412 NA 0.01292846 NA FALSE NA 0.003 0.991 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 18/65 1 NA TGA G 8.237e-06 9:134761907 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001655385 intron_variant 0.301534 0.683 0.25016 0.062308 0.5801096 0.6314 1 TRUE 1.21967e-05 ENSE00001655385_013 ENSE00001655385 013 9 137653708 137653877 + 63 54 53 C T 137653755 3603 48 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGATCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA 134761861 134762031 134761908 134761909 134761909 upstr_intron -16 -0.2380952 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGATCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA mutant NA NA NA NA NA 68 100 0.9699286 0.9804042 0.9751664 0.8515529 0.7585719 0.9297765 0.9915059 NA NA 0.04015209 -0.01110169 0.8050624 0.9606412 NA 0.0145252 NA FALSE NA 0 -0.372 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134761909 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001655385 intron_variant 0.531386 0.45664 0.06771 0.062308 0.5481543 0.129384 1 TRUE 1.21973e-05 ENSE00001655385_017 ENSE00001655385 017 9 137653708 137653877 + 63 54 53 T G 137653779 3607 72 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCGGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA 134761861 134762031 134761932 134761933 134761933 exon 9 0.1666667 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCGGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA mutant NA NA NA NA NA 231 18 0.8583764 0.8 0.8291882 0.8515529 0.7585719 0.9297765 0.9915059 NA NA -0.07140018 -0.1915059 0.8050624 0.9606412 NA -0.131453 NA FALSE NA 0.971 -0.124 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134761933 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001655385 synonymous_variant 0.697468 0.94272 0.57794 0.706298 0.7349077 0 1 TRUE 4.06481e-06 ENSE00001655385_027 ENSE00001655385 027 9 137653708 137653877 + 63 54 53 C A 137653812 3617 105 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGAAGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA 134761861 134762031 134761965 134761966 134761966 exon -13 0.7777778 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGAAGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA mutant NA NA NA NA NA 311 140 0.9985353 0.9792087 0.988872 0.8515529 0.7585719 0.9297765 0.9915059 NA NA 0.06875871 -0.01229721 0.8050624 0.9606412 NA 0.02823075 NA FALSE NA 0 -3.999 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134761966 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001655385 missense_variant -2.299801 0.07456 0.00666 0.706298 0.2371721 0 1 TRUE 2.84601e-05 ENSE00001655385_040 ENSE00001655385 040 9 137653708 137653877 + 63 54 53 G A 137653857 3630 150 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTACCTGCCCTACTCCTCAGTGA 134761861 134762031 134762010 134762011 134762011 downstr_intron 33 1.634615 ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTACCTGCCCTACTCCTCAGTGA ACCTTGGACAAGCCCTGCATGACCTGCTCAGGAGAGGCTGACGTTGACCCTTTCACTTCCTAGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGTAGGTATTCTGCCGTCCCTCCGACTGCTCCTGCCTGCCCTACTCCTCAGTGA mutant NA NA NA NA NA 86 250 0.9494621 0.9962608 0.9728614 0.8515529 0.7585719 0.9297765 0.9915059 NA NA 0.01968551 0.004754915 0.8050624 0.9606412 NA 0.01222021 NA FALSE NA 0 -0.005 rs188386906 intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 19/65 rs188386906 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 TGC G 2.472e-05 9:134762011 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001655385 intron_variant 0.649049 0.09834 0.02576 0.062308 0.852733 0.0924974 1 TRUE 3.66399e-05 ENSE00001656237_000 ENSE00001656237 000 13 99582387 99582556 - 35 90 45 NA NA NA NA NA CCTCCTTCACTTACCCAAGGCTTTTCCTCCTGTTTTTGTTTCCAGACGGCCATCCTGAGACGACAGGGTCGATACATATGCTCAACAGTGCCTGCGAAGGCGGAAGAGGAAGCACAGAGCTTGTTTGTTACAGAGGTAAGGCTCTTTCCTGCATTAATTTACATTTTGAA 98930132 98930302 NA NA NA NA NA NA CCTCCTTCACTTACCCAAGGCTTTTCCTCCTGTTTTTGTTTCCAGACGGCCATCCTGAGACGACAGGGTCGATACATATGCTCAACAGTGCCTGCGAAGGCGGAAGAGGAAGCACAGAGCTTGTTTGTTACAGAGGTAAGGCTCTTTCCTGCATTAATTTACATTTTGAA CCTCCTTCACTTACCCAAGGCTTTTCCTCCTGTTTTTGTTTCCAGACGGCCATCCTGAGACGACAGGGTCGATACATATGCTCAACAGTGCCTGCGAAGGCGGAAGAGGAAGCACAGAGCTTGTTTGTTACAGAGGTAAGGCTCTTTCCTGCATTAATTTACATTTTGAA natural 36 24 0.9853702 0.9908524 0.9881113 379 340 0.8025492 0.9159175 0.8592334 0.9853702 0.9908524 0.8025492 0.9159175 0 0 0 0 0.9881113 0.8592334 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00001656237 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001656237_BRK ENSE00001656237 BRK 13 99582387 99582556 - 35 90 45 A,G; T,T NA NA NA CCTCCTTCACTTACCCAAGGCTTTTCCTCCTGTTTTTGTTTCCTTACGGCCATCCTGAGACGACAGGGTCGATACATATGCTCAACAGTGCCTGCGAAGGCGGAAGAGGAAGCACAGAGCTTGTTTGTTACAGAGCCAAGGCTCTTTCCTGCATTAATTTACATTTTGAA 98930132 98930302 NA NA NA NA NA NA CCTCCTTCACTTACCCAAGGCTTTTCCTCCTGTTTTTGTTTCCTTACGGCCATCCTGAGACGACAGGGTCGATACATATGCTCAACAGTGCCTGCGAAGGCGGAAGAGGAAGCACAGAGCTTGTTTGTTACAGAGCCAAGGCTCTTTCCTGCATTAATTTACATTTTGAA CCTCCTTCACTTACCCAAGGCTTTTCCTCCTGTTTTTGTTTCCAGACGGCCATCCTGAGACGACAGGGTCGATACATATGCTCAACAGTGCCTGCGAAGGCGGAAGAGGAAGCACAGAGCTTGTTTGTTACAGAGGTAAGGCTCTTTCCTGCATTAATTTACATTTTGAA control 33 302 0 0.004312664 0.002156332 NA NA NA NA NA 0.9853702 0.9908524 0.8025492 0.9159175 -0.9853702 -0.9865397 NA NA 0.9881113 0.8592334 -0.985955 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001656237 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001656503_000 ENSE00001656503 000 22 41173012 41173181 - 32 96 42 NA NA NA NA NA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 NA NA NA NA NA NA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA natural NA NA NA NA NA 1296 1295 0.9534437 0.8909128 0.9221783 NA NA 0.9534437 0.8909128 NA NA 0 0 NA 0.9221783 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC25A17 NA NA NA ENSG00000100372 ENSE00003665269 NA NA NA NA NA NA NA 0.02418484 FALSE NA ENSE00001656503_001 ENSE00001656503 001 22 41173012 41173181 - 32 96 42 C T 41173022 1039 160 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCACATTTAGTCA 40777007 40777177 40777017 40777018 40777018 downstr_intron 22 1.709677 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCACATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 1032 606 0.9986766 0.9964695 0.997573 NA NA 0.9534437 0.8909128 NA NA 0.04523283 0.1055566 NA 0.9221783 NA 0.07539473 NA FALSE NA 0 0.04 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:40777018 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 intron_variant -0.068884 0.22976 0.07085 0.295142 0.6352827 0.0882427 0.02418484 FALSE 8.16427e-06 ENSE00001656503_002 ENSE00001656503 002 22 41173012 41173181 - 32 96 42 C A 41173022 1040 160 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCTCATTTAGTCA 40777007 40777177 40777017 40777018 40777018 downstr_intron 22 1.709677 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCTCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 725 284 1 1 1 NA NA 0.9534437 0.8909128 NA NA 0.04655627 0.1090872 NA 0.9221783 NA 0.07782171 NA FALSE NA 0 0.04 NA NA NA SLC25A17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC25A17 NA NA NA ENSG00000100372 ENSE00003665269 intron_variant -0.065393 0.26661 0.25936 0.295142 0.4895648 0.0882427 0.02418484 FALSE 8.16427e-06 ENSE00001656503_003 ENSE00001656503 003 22 41173012 41173181 - 32 96 42 G A 41173023 1041 159 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTTGCATTTAGTCA 40777007 40777177 40777018 40777019 40777019 downstr_intron 21 1.677419 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTTGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 22 71 0.8 0.9722902 0.8861451 NA NA 0.9534437 0.8909128 NA NA -0.1534437 0.08137736 NA 0.9221783 NA -0.03603319 NA FALSE NA 0 0.551 . intron_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/6 rs370769537 1 NA A:0.0007 A:0 CGA G,A 0.0001153 22:40777019 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 intron_variant 0.044095 0.20262 0.00442 0.295142 0.5992798 0.0882427 0.02418484 FALSE 0.000114198 ENSE00001656503_004 ENSE00001656503 004 22 41173012 41173181 - 32 96 42 G T 41173028 1042 154 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTATCTTCGCATTTAGTCA 40777007 40777177 40777023 40777024 40777024 downstr_intron 16 1.516129 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTATCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 682 1395 1 0.9977872 0.9988936 NA NA 0.9534437 0.8909128 NA NA 0.04655627 0.1068744 NA 0.9221783 NA 0.07671532 NA FALSE NA 0.002 1.402 . intron_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/6 rs373911571 1 NA T:0 T:0.0002 AGA G,T 6.589e-05 22:40777024 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 intron_variant -0.189573 0.25561 0.30703 0.295142 0.4297566 0.158097 0.02418484 FALSE 6.51922e-05 ENSE00001656503_007 ENSE00001656503 007 22 41173012 41173181 - 32 96 42 C T 41173044 1045 138 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGAGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777039 40777040 40777040 exon -1 1 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGAGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 466 782 0.9972297 1 0.9986149 NA NA 0.9534437 0.8909128 NA NA 0.043786 0.1090872 NA 0.9221783 NA 0.07643658 NA FALSE NA 1 4.632 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW SLC25A17 HGNC 10987 ENST00000447566 5/7 1 NA CCC C,T 0.0003542 22:40777040 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 splice_region_variant 2.077094 0.98861 0.98158 0.706548 0.9444731 0 0.02418484 FALSE 0.000292626 ENSE00001656503_010 ENSE00001656503 010 22 41173012 41173181 - 32 96 42 G A 41173063 1048 119 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGATGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777058 40777059 40777059 exon -20 0.8020833 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGATGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 2249 26 0.9726579 1 0.9863289 NA NA 0.9534437 0.8909128 NA NA 0.01921416 0.1090872 NA 0.9221783 NA 0.06415066 NA FALSE NA 1 6.423 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 rs564359013&COSM215864 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 2.471e-05 22:40777059 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 missense_variant 5.853504 0.99188 0.99135 0.706548 0.9986839 0 0.02418484 FALSE 4.8748e-05 ENSE00001656503_013 ENSE00001656503 013 22 41173012 41173181 - 32 96 42 G A 41173084 1051 98 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCATGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777079 40777080 40777080 exon -41 0.5833333 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCATGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 138 17 0.9506519 0.990581 0.9706165 NA NA 0.9534437 0.8909128 NA NA -0.00279183 0.09966819 NA 0.9221783 NA 0.04843818 NA FALSE NA 1 5.459 rs141659758 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 rs141659758 1 NA A:0.0002 A:0 CGT G,A 1.647e-05 22:40777080 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 missense_variant 5.75587 0.98912 0.98281 0.706548 0.9888705 0 0.02418484 FALSE 2.84299e-05 ENSE00001656503_014 ENSE00001656503 014 22 41173012 41173181 - 32 96 42 G C 41173086 1052 96 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACGACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777081 40777082 40777082 exon -43 0.5625 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACGACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 37 219 1 0.9910048 0.9955024 NA NA 0.9534437 0.8909128 NA NA 0.04655627 0.1000919 NA 0.9221783 NA 0.0733241 NA FALSE NA 1 0.77 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 rs375523852 1 NA C:0 C:0.0001 TGG G,C 8.236e-06 22:40777082 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 synonymous_variant 0.187756 0.97078 0.97119 0.706548 0.5103505 0 0.02418484 FALSE 4.06138e-06 ENSE00001656503_015 ENSE00001656503 015 22 41173012 41173181 - 32 96 42 A G 41173093 1053 89 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGACTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777088 40777089 40777089 exon 47 0.4895833 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGACTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 126 560 0.9433174 0.9474501 0.9453837 NA NA 0.9534437 0.8909128 NA NA -0.01012638 0.05653723 NA 0.9221783 NA 0.02320543 NA FALSE NA 1 5.992 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 1 NA AAT A,G 8.236e-06 22:40777089 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 missense_variant 4.46554 0.99456 0.98126 0.706548 0.9985764 0 0.02418484 FALSE 4.06114e-06 ENSE00001656503_016 ENSE00001656503 016 22 41173012 41173181 - 32 96 42 C T 41173095 1054 87 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCAATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777090 40777091 40777091 exon 45 0.46875 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCAATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 274 33 0.9960283 1 0.9980141 NA NA 0.9534437 0.8909128 NA NA 0.04258453 0.1090872 NA 0.9221783 NA 0.07583584 NA FALSE NA 0 -3.862 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 rs368601514 1 NA T:0 T:0.0001 TCG C,T 4.118e-05 22:40777091 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 synonymous_variant 2.111093 0.10351 0.00671 0.706548 0.6345194 0 0.02418484 FALSE 3.65509e-05 ENSE00001656503_017 ENSE00001656503 017 22 41173012 41173181 - 32 96 42 G A 41173096 1055 86 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGTGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777091 40777092 40777092 exon 44 0.4583333 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGTGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 1766 267 0.7989402 0.9770016 0.8879709 NA NA 0.9534437 0.8909128 NA NA -0.1545036 0.08608873 NA 0.9221783 NA -0.03420743 NA FALSE NA 1 7.663 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 rs371543259&COSM277305 1 NA A:0.0007 A:0 CGC G,A 3.295e-05 22:40777092 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 missense_variant 7.221347 0.99592 0.9973 0.706548 0.9992888 0 0.02418484 FALSE 1.62456e-05 ENSE00001656503_018 ENSE00001656503 018 22 41173012 41173181 - 32 96 42 C T 41173106 1056 76 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAATAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777101 40777102 40777102 exon 34 0.3541667 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAATAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 111 225 0.8365054 1 0.9182527 NA NA 0.9534437 0.8909128 NA NA -0.1169384 0.1090872 NA 0.9221783 NA -0.003925598 NA FALSE NA 0 -1.271 rs146202372 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 rs146202372 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0.0011 T:0 ACT C,T 7.413e-05 22:40777102 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 missense_variant -0.843396 0.10355 0.01834 0.706548 0.5579276 0 0.02418484 FALSE 4.46751e-05 ENSE00001656503_019 ENSE00001656503 019 22 41173012 41173181 - 32 96 42 C G 41173111 1057 71 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGCTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777106 40777107 40777107 exon 29 0.3020833 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGCTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 518 1875 1 0.9986258 0.9993129 NA NA 0.9534437 0.8909128 NA NA 0.04655627 0.1077129 NA 0.9221783 NA 0.07713459 NA FALSE NA 1 7.51 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 1 NA ACC C,G 2.471e-05 22:40777107 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 missense_variant 6.3425 0.99683 0.99867 0.706548 0.9986334 0 0.02418484 FALSE 4.87337e-05 ENSE00001656503_020 ENSE00001656503 020 22 41173012 41173181 - 32 96 42 T C 41173118 1058 64 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCGTCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777113 40777114 40777114 exon 22 0.2291667 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCGTCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 75 14 1 1 1 NA NA 0.9534437 0.8909128 NA NA 0.04655627 0.1090872 NA 0.9221783 NA 0.07782171 NA FALSE NA 0.812 -0.372 rs137901231 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 rs137901231 1 NA C:0.0002 C:0.002 ATG T,C 0.001104 22:40777114 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 missense_variant -0.00556 0.73894 0.18342 0.706548 0.6402366 0 0.02418484 FALSE 0.0010072 ENSE00001656503_022 ENSE00001656503 022 22 41173012 41173181 - 32 96 42 A G 41173134 1060 48 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCCTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777129 40777130 40777130 exon 6 0.0625 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCCTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 281 725 1 0.9976564 0.9988282 NA NA 0.9534437 0.8909128 NA NA 0.04655627 0.1067435 NA 0.9221783 NA 0.0766499 NA FALSE NA 0.013 -0.778 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 5/7 1 NA AAG A,G 1.647e-05 22:40777130 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 synonymous_variant 0.845552 0.9665 0.32894 0.706548 0.6789273 0 0.02418484 FALSE 8.12216e-06 ENSE00001656503_023 ENSE00001656503 023 22 41173012 41173181 - 32 96 42 G A 41173142 1061 40 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCTAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777137 40777138 40777138 upstr_intron -3 -0.04761905 GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCTAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 416 317 1 1 1 NA NA 0.9534437 0.8909128 NA NA 0.04655627 0.1090872 NA 0.9221783 NA 0.07782171 NA FALSE NA 1 2.433 . splice_region_variant&intron_variant&NMD_transcript_variant LOW SLC25A17 HGNC 10987 ENST00000447566 4/6 rs375925295 1 NA A:0 A:0.0001 TGG G,A 1.647e-05 22:40777138 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 splice_region_variant 1.689153 0.964 0.94311 0.156188 0.824668 0.520048 0.02418484 FALSE 1.21845e-05 ENSE00001656503_025 ENSE00001656503 025 22 41173012 41173181 - 32 96 42 C T 41173163 1063 19 GTTGACTTGATTGATATGATTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777158 40777159 40777159 upstr_intron -24 -0.547619 GTTGACTTGATTGATATGATTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 475 1915 0.9985178 0.9974765 0.9979971 NA NA 0.9534437 0.8909128 NA NA 0.04507403 0.1065637 NA 0.9221783 NA 0.07581886 NA FALSE NA 0 -2.045 . intron_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 4/6 1 NA ACC C,T 1.647e-05 22:40777159 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 intron_variant 0.13436 0.21412 0.02638 0.062308 0.4689117 0.0725737 0.02418484 FALSE 8.12374e-06 ENSE00001656503_027 ENSE00001656503 027 22 41173012 41173181 - 32 96 42 C A 41173169 1065 13 GTTGACTTGATTTATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA 40777007 40777177 40777164 40777165 40777165 upstr_intron -30 -0.6904762 GTTGACTTGATTTATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA GTTGACTTGATTGATATGGTTTGTTCTTCCTTTGCTTTCCAGCTTTCTTCCTTGGATGTGTTCATCATTGGTGCAGTAGCCAAAGCGATTGCCACCACGGTGACCTATCCCCTGCAGACGGTACAGTCAATTCTGAGGGTGAGTGCTGGAGTTCTCTTCGCATTTAGTCA mutant NA NA NA NA NA 320 215 1 0.9933622 0.9966811 NA NA 0.9534437 0.8909128 NA NA 0.04655627 0.1024494 NA 0.9221783 NA 0.07450283 NA FALSE NA 0.066 0.844 . intron_variant&NMD_transcript_variant MODIFIER SLC25A17 HGNC 10987 ENST00000447566 4/6 1 NA TCA C,A 8.236e-06 22:40777165 SLC25A17 HGNC Symbol protein_coding 49769 ENSG00000100372 ENSE00003665269 intron_variant 0.055495 0.27083 0.29918 0.156188 0.5620478 0.0718406 0.02418484 FALSE 4.06263e-06 ENSE00001657914_000 ENSE00001657914 000 13 99040595 99040764 + 42 96 32 NA NA NA NA NA GTTATGCATTTCCTGGCTCACTGCTACTGTCTTTCTTTTTAGGGTTTCACTAAGATCAATGCCTTCAACTGGGCCAAGGTGCGGAAGCTGAGCTTCAAGAGGAAGCGCTTTCTCATCAAGCTCCGGCCAGATGCCAATGTAAGTGGTCCTGGCGGGAAAGGGGACCCGTT 98388340 98388510 NA NA NA NA NA NA GTTATGCATTTCCTGGCTCACTGCTACTGTCTTTCTTTTTAGGGTTTCACTAAGATCAATGCCTTCAACTGGGCCAAGGTGCGGAAGCTGAGCTTCAAGAGGAAGCGCTTTCTCATCAAGCTCCGGCCAGATGCCAATGTAAGTGGTCCTGGCGGGAAAGGGGACCCGTT GTTATGCATTTCCTGGCTCACTGCTACTGTCTTTCTTTTTAGGGTTTCACTAAGATCAATGCCTTCAACTGGGCCAAGGTGCGGAAGCTGAGCTTCAAGAGGAAGCGCTTTCTCATCAAGCTCCGGCCAGATGCCAATGTAAGTGGTCCTGGCGGGAAAGGGGACCCGTT natural 48 48 0.9994616 0.9807625 0.990112 2272 1428 0.9591919 0.9946335 0.9769127 0.9994616 0.9807625 0.9591919 0.9946335 0 0 0 0 0.990112 0.9769127 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003659207 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001657914_BRK ENSE00001657914 BRK 13 99040595 99040764 + 42 96 32 A,G; T,T NA NA NA GTTATGCATTTCCTGGCTCACTGCTACTGTCTTTCTTTTTTTGGTTTCACTAAGATCAATGCCTTCAACTGGGCCAAGGTGCGGAAGCTGAGCTTCAAGAGGAAGCGCTTTCTCATCAAGCTCCGGCCAGATGCCAATCCAAGTGGTCCTGGCGGGAAAGGGGACCCGTT 98388340 98388510 NA NA NA NA NA NA GTTATGCATTTCCTGGCTCACTGCTACTGTCTTTCTTTTTTTGGTTTCACTAAGATCAATGCCTTCAACTGGGCCAAGGTGCGGAAGCTGAGCTTCAAGAGGAAGCGCTTTCTCATCAAGCTCCGGCCAGATGCCAATCCAAGTGGTCCTGGCGGGAAAGGGGACCCGTT GTTATGCATTTCCTGGCTCACTGCTACTGTCTTTCTTTTTAGGGTTTCACTAAGATCAATGCCTTCAACTGGGCCAAGGTGCGGAAGCTGAGCTTCAAGAGGAAGCGCTTTCTCATCAAGCTCCGGCCAGATGCCAATGTAAGTGGTCCTGGCGGGAAAGGGGACCCGTT control NA NA NA NA NA 273 47 0 0.006890112 0.003445056 0.9994616 0.9807625 0.9591919 0.9946335 NA NA -0.9591919 -0.9877434 0.990112 0.9769127 NA -0.9734676 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003659207 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001658157_000 ENSE00001658157 000 9 137688631 137688800 + 63 54 53 NA NA NA NA NA TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCCAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 NA NA NA NA NA NA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA natural 34 10 0.9992197 1 0.9996098 636 752 0.9879408 0.9922798 0.9901103 0.9992197 1 0.9879408 0.9922798 0 0 0 0 0.9996098 0.9901103 0 0 0 FALSE FALSE NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001658157 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001658157_001 ENSE00001658157 001 9 137688631 137688800 + 63 54 53 T A 137688645 3806 15 TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCCAGTTTGAGGACAAGAGGTCTCTCCCGAGCTGCTCCTGCCGCTGA 134796784 134796954 134796798 134796799 134796799 upstr_intron -49 -0.7619048 TCAGCGGCAGGAGCAGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 45 131 0.9757646 1 0.9878823 0.9992197 1 0.9879408 0.9922798 NA NA -0.01217621 0.007720225 0.9996098 0.9901103 NA -0.002227992 NA FALSE NA 0 -0.696 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 1 NA CTG T 8.238e-06 9:134796799 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.626922 0.10858 0.03549 0.218109 0.7847605 0.0675211 1 TRUE 4.09702e-06 ENSE00001658157_002 ENSE00001658157 002 9 137688631 137688800 + 63 54 53 C T 137688649 3807 19 TCAGCGGCAGGAGCTGCTTGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796802 134796803 134796803 upstr_intron -45 -0.6984127 TCAGCGGCAGGAGCTGCTTGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 313 31 0.9824048 1 0.9912024 0.9992197 1 0.9879408 0.9922798 NA NA -0.005536044 0.007720225 0.9996098 0.9901103 NA 0.001092091 NA FALSE NA 0 -1.52 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 1 NA TCG C 4.942e-05 9:134796803 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.059749 0.09367 0.0139 0.218109 0.6757857 0.0518458 1 TRUE 4.07967e-05 ENSE00001658157_003 ENSE00001658157 003 9 137688631 137688800 + 63 54 53 G T 137688650 3808 20 TCAGCGGCAGGAGCTGCTCTGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796803 134796804 134796804 upstr_intron -44 -0.6825397 TCAGCGGCAGGAGCTGCTCTGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 260 1047 0.9873849 1 0.9936924 0.9992197 1 0.9879408 0.9922798 NA NA -0.0005559399 0.007720225 0.9996098 0.9901103 NA 0.003582143 NA FALSE NA 0 -1.187 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 1 NA CGG G 1.647e-05 9:134796804 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant -0.513134 0.12302 0.0071 0.218109 0.705513 0.0518458 1 TRUE 4.07697e-06 ENSE00001658157_004 ENSE00001658157 004 9 137688631 137688800 + 63 54 53 A G 137688655 3809 25 TCAGCGGCAGGAGCTGCTCGGGAGGGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796808 134796809 134796809 upstr_intron -39 -0.6031746 TCAGCGGCAGGAGCTGCTCGGGAGGGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 120 349 1 0.9842721 0.992136 0.9992197 1 0.9879408 0.9922798 NA NA 0.01205917 -0.008007699 0.9996098 0.9901103 NA 0.002025735 NA FALSE NA 0 0.236 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 1 NA GAG A 1.647e-05 9:134796809 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.108433 0.10924 0.04006 0.080785 0.4326875 0.0675211 1 TRUE 8.13531e-06 ENSE00001658157_005 ENSE00001658157 005 9 137688631 137688800 + 63 54 53 A G 137688657 3810 27 TCAGCGGCAGGAGCTGCTCGGGAGAGGCCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796810 134796811 134796811 upstr_intron -37 -0.5714286 TCAGCGGCAGGAGCTGCTCGGGAGAGGCCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 26 44 0.95 0.8 0.875 0.9992197 1 0.9879408 0.9922798 NA NA -0.03794083 -0.1922798 0.9996098 0.9901103 NA -0.1151103 NA FALSE NA 0 0.479 rs3811159 intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 rs3811159 1 A:0.4722 G:0.5461 G:0.4438 NA G:0.748 G:0.4095 G:0.4571 G:0.554 G:0.4628 GAC A 0.484 9:134796811 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.094781 0.04526 0.00024 0.080785 0.4203643 0.0675211 1 TRUE 0.480369 ENSE00001658157_009 ENSE00001658157 009 9 137688631 137688800 + 63 54 53 C A 137688667 3814 37 TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCCAGTTTGATGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796820 134796821 134796821 upstr_intron -27 -0.4126984 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCATCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 19 280 0.9787231 0.9994348 0.9890789 0.9992197 1 0.9879408 0.9922798 NA NA -0.009217719 0.007154976 0.9996098 0.9901103 NA -0.001031372 NA FALSE NA 0.003 0.034 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 1 NA CCT C 0.0001071 9:134796821 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.597656 0.1468 0.04278 0.080785 0.7872815 0.116441 1 TRUE 8.93553e-05 ENSE00001658157_010 ENSE00001658157 010 9 137688631 137688800 + 63 54 53 A G 137688672 3815 42 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAGCTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796825 134796826 134796826 upstr_intron -22 -0.3333333 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAGCTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 93 87 0.9903206 0.95 0.9701603 0.9992197 1 0.9879408 0.9922798 NA NA 0.002379779 -0.04227977 0.9996098 0.9901103 NA -0.01995 NA FALSE NA 0 0.409 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 rs574954328 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAC A 8.236e-05 9:134796826 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.363701 0.12718 0.01184 0.080785 0.6065397 0.156787 1 TRUE 5.68579e-05 ENSE00001658157_011 ENSE00001658157 011 9 137688631 137688800 + 63 54 53 G A 137688675 3816 45 TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCTAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796828 134796829 134796829 upstr_intron -19 -0.2857143 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTAGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 135 158 1 1 1 0.9992197 1 0.9879408 0.9922798 NA NA 0.01205917 0.007720225 0.9996098 0.9901103 NA 0.009889698 NA FALSE NA 0 0.327 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 1 NA TGG G 8.236e-06 9:134796829 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.336663 0.17192 0.04507 0.080785 0.640406 0.156787 1 TRUE 8.12269e-06 ENSE00001658157_012 ENSE00001658157 012 9 137688631 137688800 + 63 54 53 G A 137688676 3817 46 TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGTCAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796829 134796830 134796830 upstr_intron -18 -0.2698413 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGACCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 589 193 0.9950193 0.9998026 0.9974109 0.9992197 1 0.9879408 0.9922798 NA NA 0.007078458 0.007522796 0.9996098 0.9901103 NA 0.007300627 NA FALSE NA 0 0.5 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 1 NA GGC G 1.647e-05 9:134796830 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.159375 0.12679 0.01787 0.080785 0.6290517 0.156787 1 TRUE NA ENSE00001658157_015 ENSE00001658157 015 9 137688631 137688800 + 63 54 53 T C 137688683 3820 53 TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGGGAAAGGCCAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796836 134796837 134796837 upstr_intron -11 -0.1587302 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCCCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 1127 398 0.001333746 0.001271347 0.001302547 0.9992197 1 0.9879408 0.9922798 NA NA -0.9866071 -0.9910084 0.9996098 0.9901103 NA -0.9888078 NA TRUE NA 0.354 3.969 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 35/65 1 NA CTC T 8.236e-06 9:134796837 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.675891 0.3187 0.63452 0.080785 0.7811281 0.251664 1 TRUE 8.12183e-06 ENSE00001658157_017 ENSE00001658157 017 9 137688631 137688800 + 63 54 53 A G 137688701 3822 71 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAGTGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796854 134796855 134796855 exon 8 0.1481481 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAGTGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 378 54 0.9880289 1 0.9940145 0.9992197 1 0.9879408 0.9922798 NA NA 8.811676e-05 0.007720225 0.9996098 0.9901103 NA 0.003904171 NA FALSE NA 0.998 3.826 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134796855 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 missense_variant 2.289774 0.96654 0.94214 0.706548 0.9912166 0 1 TRUE 0.01012 ENSE00001658157_019 ENSE00001658157 019 9 137688631 137688800 + 63 54 53 C T 137688706 3824 76 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGATCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796859 134796860 134796860 exon 13 0.2407407 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGATCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 347 1074 0.989592 0.958869 0.9742305 0.9992197 1 0.9879408 0.9922798 NA NA 0.001651211 -0.03341073 0.9996098 0.9901103 NA -0.01587976 NA FALSE NA 1 2.95 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 36/66 1 unknown(0) NA ACC C 8.236e-06 9:134796860 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 missense_variant 3.306256 0.97003 0.93328 0.706548 0.9948403 0 1 TRUE NA ENSE00001658157_020 ENSE00001658157 020 9 137688631 137688800 + 63 54 53 A G 137688718 3825 88 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCGCAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796871 134796872 134796872 exon 25 0.462963 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCGCAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 76 105 0.9650273 1 0.9825137 0.9992197 1 0.9879408 0.9922798 NA NA -0.02291351 0.007720225 0.9996098 0.9901103 NA -0.007596644 NA FALSE NA 1 5.782 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 36/66 1 unknown(0) NA CAC A 8.236e-06 9:134796872 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 missense_variant 1.184425 0.97592 0.95326 0.706548 0.8735607 0 1 TRUE NA ENSE00001658157_022 ENSE00001658157 022 9 137688631 137688800 + 63 54 53 T G 137688729 3827 99 TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCCGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCCAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796882 134796883 134796883 exon -19 0.6666667 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCGGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 143 19 1 1 1 0.9992197 1 0.9879408 0.9922798 NA NA 0.01205917 0.007720225 0.9996098 0.9901103 NA 0.009889698 NA FALSE NA 0.951 -0.016 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 36/66 rs560755167 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CTG T 1.647e-05 9:134796883 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 synonymous_variant 0.776666 0.95406 0.7822 0.706548 0.6881324 0 1 TRUE 8.12493e-06 ENSE00001658157_023 ENSE00001658157 023 9 137688631 137688800 + 63 54 53 C T 137688741 3828 111 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGTCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796894 134796895 134796895 exon -7 0.8888889 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGTCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 118 326 0.9505139 0.9608991 0.9557065 0.9992197 1 0.9879408 0.9922798 NA NA -0.03742695 -0.03138072 0.9996098 0.9901103 NA -0.03440383 NA FALSE NA 0.925 0.175 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134796895 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 synonymous_variant 1.694429 0.95689 0.72154 0.706548 0.6689767 0 1 TRUE 0.0409717 ENSE00001658157_026 ENSE00001658157 026 9 137688631 137688800 + 63 54 53 C G 137688744 3831 114 TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGCGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCCAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796897 134796898 134796898 exon -4 0.9444444 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCGCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 191 119 1 1 1 0.9992197 1 0.9879408 0.9922798 NA NA 0.01205917 0.007720225 0.9996098 0.9901103 NA 0.009889698 NA FALSE NA 0.626 -0.199 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 36/66 1 NA CCC C 3.295e-05 9:134796898 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 synonymous_variant 1.103476 0.94719 0.65489 0.706548 0.5212425 0 1 TRUE 2.03497e-05 ENSE00001658157_027 ENSE00001658157 027 9 137688631 137688800 + 63 54 53 C G 137688763 3832 133 TGGGTTTTGGAGGGGACAGGCAGTGCTGGCCCAGCAACGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCCAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796916 134796917 134796917 downstr_intron 16 1.307692 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCGTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 322 423 0.992193 1 0.9960965 0.9992197 1 0.9879408 0.9922798 NA NA 0.004252186 0.007720225 0.9996098 0.9901103 NA 0.005986206 NA FALSE NA 0.008 0.289 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 36/65 1 NA CCT C 8.237e-06 9:134796917 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant -0.286024 0.23569 0.08214 0.062308 0.4701184 0.0497025 1 TRUE 4.06683e-06 ENSE00001658157_028 ENSE00001658157 028 9 137688631 137688800 + 63 54 53 C T 137688767 3833 137 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGTTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA 134796784 134796954 134796920 134796921 134796921 downstr_intron 20 1.384615 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGTTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 616 159 0.9967484 1 0.9983742 0.9992197 1 0.9879408 0.9922798 NA NA 0.008807593 0.007720225 0.9996098 0.9901103 NA 0.008263909 NA FALSE NA 0 -0.264 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 36/65 1 NA GCT C 1.648e-05 9:134796921 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant -0.095836 0.14127 0.02829 0.062308 0.2324831 0.0497025 1 TRUE 2.07643e-05 ENSE00001658157_031 ENSE00001658157 031 9 137688631 137688800 + 63 54 53 C A 137688776 3836 146 TGGGTTTTGGAGGGGACAGGCAGTTCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCCAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796929 134796930 134796930 downstr_intron 29 1.557692 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGAACTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 154 51 1 1 1 0.9992197 1 0.9879408 0.9922798 NA NA 0.01205917 0.007720225 0.9996098 0.9901103 NA 0.009889698 NA FALSE NA 0 -1.508 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 36/65 1 NA GCA C 2.472e-05 9:134796930 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant 0.094585 0.11424 0.00755 0.062308 0.7037367 0.0497025 1 TRUE 1.29695e-05 ENSE00001658157_032 ENSE00001658157 032 9 137688631 137688800 + 63 54 53 C G 137688778 3837 148 TGGGTTTTGGAGGGGACAGGCACTGCTGGCCCAGCAAGGAAGCCATTACTTACAGGGGGGCCCTTTGGTCCAGGAAATCCTGTGGGTCCTTGGGGTCCATTGGGTCCCTGGGAACAGAGAAAGGCCAGTTTGAGGACAAGAGGTCTCTCCCGAGCAGCTCCTGCCGCTGA 134796784 134796954 134796931 134796932 134796932 downstr_intron 31 1.596154 TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCAGTGCCTGTCCCCTCCAAAACCCA TCAGCGGCAGGAGCTGCTCGGGAGAGACCTCTTGTCCTCAAACTGGCCTTTCTCTGTTCCCAGGGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCTGTAAGTAATGGCTTCCTTGCTGGGCCAGCACTGCCTGTCCCCTCCAAAACCCA mutant NA NA NA NA NA 192 75 1 1 1 0.9992197 1 0.9879408 0.9922798 NA NA 0.01205917 0.007720225 0.9996098 0.9901103 NA 0.009889698 NA FALSE NA 0 -0.761 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 36/65 1 NA ACT C 8.242e-06 9:134796932 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001658157 intron_variant -0.344284 0.0747 0.01558 0.062308 0.6405837 0.0497025 1 TRUE 1.31973e-05 ENSE00001658520_000 ENSE00001658520 000 9 134358699 134358868 + 47 87 36 NA NA NA NA NA GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 NA NA NA NA NA NA GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG natural 1128 1436 0.8446362 0.8462971 0.8454667 6455 2631 0.8132269 0.8108158 0.8120213 0.8446362 0.8462971 0.8132269 0.8108158 0 0 0 0 0.8454667 0.8120213 0 0 0 FALSE FALSE NA NA NA NA NA PRRC2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRRC2B NA NA NA ENSG00000130723 ENSE00003631378 NA NA NA NA NA NA NA 0.9999991 TRUE NA ENSE00001658520_001 ENSE00001658520 001 9 134358699 134358868 + 47 87 36 C T 134358711 3159 13 GGCCAGGAGGATTTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483323 131483324 131483324 upstr_intron -35 -0.7234043 GGCCAGGAGGATTTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 613 282 0.8242629 0.8118118 0.8180374 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.01103608 0.0009960353 0.8454667 0.8120213 NA 0.006016056 NA FALSE NA 0 -1.105 . intron_variant MODIFIER PRRC2B HGNC 28121 ENST00000451855 7/8 1 NA TCT C,T 1.654e-05 9:131483324 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.301137 0.16538 0.03119 0.256867 0.4850751 0.0559044 0.9999991 TRUE 8.14777e-06 ENSE00001658520_002 ENSE00001658520 002 9 134358699 134358868 + 47 87 36 G A 134358719 3160 21 GGCCAGGAGGATCTCAGTGGACTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483331 131483332 131483332 upstr_intron -27 -0.5531915 GGCCAGGAGGATCTCAGTGGACTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 485 1284 0.8 0.8010123 0.8005061 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.01322686 -0.009803486 0.8454667 0.8120213 NA -0.01151517 NA FALSE NA 0 -0.19 rs41317004 intron_variant MODIFIER PRRC2B HGNC 28121 ENST00000451855 7/8 rs41317004 1 A:0.0477 A:0.0061 A:0.0634 NA A:0.001 A:0.16 A:0.0256 A:0.0208 A:0.1346 GGC G,A 0.108 9:131483332 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.390667 0.25961 0.24863 0.256867 0.6034393 0.0559044 0.9999991 TRUE 0.107951 ENSE00001658520_003 ENSE00001658520 003 9 134358699 134358868 + 47 87 36 C T 134358720 3161 22 GGCCAGGAGGATCTCAGTGGGTTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483332 131483333 131483333 upstr_intron -26 -0.5319149 GGCCAGGAGGATCTCAGTGGGTTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 75 1524 0.8646198 0.8645446 0.8645822 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.05139291 0.0537288 0.8454667 0.8120213 NA 0.05256086 NA FALSE NA 0.06 0.722 . intron_variant MODIFIER PRRC2B HGNC 28121 ENST00000451855 7/8 1 NA GCT C,T 8.272e-06 9:131483333 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.518268 0.23734 0.30251 0.256867 0.589725 0.0559044 0.9999991 TRUE 4.066e-06 ENSE00001658520_004 ENSE00001658520 004 9 134358699 134358868 + 47 87 36 T G 134358734 3162 36 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTGTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483346 131483347 131483347 upstr_intron -12 -0.2340426 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTGTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 379 409 0.7943919 0.8 0.797196 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.01883492 -0.01081576 0.8454667 0.8120213 NA -0.01482534 NA FALSE NA 0 0.489 . intron_variant MODIFIER PRRC2B HGNC 28121 ENST00000451855 7/8 rs375881479 1 NA G:0.0003 G:0 TTT T,G 2.482e-05 9:131483347 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.052077 0.33138 0.38226 0.256867 0.3418362 0.122766 0.9999991 TRUE 3.65601e-05 ENSE00001658520_006 ENSE00001658520 006 9 134358699 134358868 + 47 87 36 T C 134358749 3164 51 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACCCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483361 131483362 131483362 exon 4 0.04597701 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACCCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 206 694 0.8007819 0.7942557 0.7975188 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.01244494 -0.01656002 0.8454667 0.8120213 NA -0.01450248 NA FALSE NA 1 4.572 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 1 deleterious(0) probably_damaging(0.962) NA CTC T,C 8.274e-06 9:131483362 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 5.215606 0.93678 0.97092 0.706548 0.9983869 0 0.9999991 TRUE 4.06098e-06 ENSE00001658520_007 ENSE00001658520 007 9 134358699 134358868 + 47 87 36 G A 134358752 3165 54 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCAATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483364 131483365 131483365 exon 7 0.08045977 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCAATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 58 441 0.7642222 0.795476 0.7798491 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.04900469 -0.01533977 0.8454667 0.8120213 NA -0.03217223 NA FALSE NA 1 7.738 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 COSM165987 1 deleterious(0) probably_damaging(0.999) NA CGA G,A 8.273e-06 9:131483365 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 6.576053 0.96089 0.9862 0.706548 0.9988374 0 0.9999991 TRUE 8.12196e-06 ENSE00001658520_008 ENSE00001658520 008 9 134358699 134358868 + 47 87 36 C T 134358757 3166 59 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTTAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483369 131483370 131483370 exon 12 0.137931 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTTAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 106 150 0.06344713 0.261242 0.1623446 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.7497797 -0.5495738 0.8454667 0.8120213 NA -0.6496767 NA TRUE NA 1 1.997 . synonymous_variant LOW PRRC2B HGNC 28121 ENST00000451855 8/9 rs376070009 1 NA T:0.0003 T:0 TCA C,T 8.273e-06 9:131483370 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 synonymous_variant 1.174168 0.93073 0.89086 0.706548 0.6441413 0 0.9999991 TRUE 2.03049e-05 ENSE00001658520_010 ENSE00001658520 010 9 134358699 134358868 + 47 87 36 C G 134358764 3168 66 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGGCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483376 131483377 131483377 exon 19 0.2183908 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGGCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 22 1092 0 0.04820974 0.02410487 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.8132269 -0.762606 0.8454667 0.8120213 NA -0.7879164 NA TRUE NA 1 5.046 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 1 deleterious(0) possibly_damaging(0.61) NA GCC C,G 8.273e-06 9:131483377 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 3.08004 0.95284 0.96058 0.706548 0.9676418 0 0.9999991 TRUE 8.12196e-06 ENSE00001658520_011 ENSE00001658520 011 9 134358699 134358868 + 47 87 36 C G 134358768 3169 70 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACGTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483380 131483381 131483381 exon 23 0.2643678 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACGTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 110 67 0.8858237 0.9085662 0.897195 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.07259686 0.09775049 0.8454667 0.8120213 NA 0.08517367 NA FALSE NA 1 6.7 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 1 deleterious(0) possibly_damaging(0.821) NA CCT C,G 1.655e-05 9:131483381 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 5.528621 0.96823 0.97762 0.706548 0.9977528 0 0.9999991 TRUE 8.12189e-06 ENSE00001658520_012 ENSE00001658520 012 9 134358699 134358868 + 47 87 36 T C 134358773 3170 75 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTCCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483385 131483386 131483386 exon 28 0.3218391 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTCCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 913 36 0.8878894 0.95 0.9189447 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.07466249 0.1391842 0.8454667 0.8120213 NA 0.1069234 NA FALSE NA 1 3.972 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 1 deleterious(0) probably_damaging(0.974) NA TTC T,C 8.272e-06 9:131483386 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 5.273788 0.92314 0.92842 0.706548 0.9981134 0 0.9999991 TRUE 4.06095e-06 ENSE00001658520_013 ENSE00001658520 013 9 134358699 134358868 + 47 87 36 C T 134358777 3171 79 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGTCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483389 131483390 131483390 exon 32 0.3678161 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGTCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 321 526 0.8131014 0.8004806 0.806791 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.00012545 -0.01033517 0.8454667 0.8120213 NA -0.005230308 NA FALSE NA 0.996 2.493 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 rs369376734 1 tolerated(1) benign(0.028) NA T:0.0003 T:0 GCC C,T 8.272e-06 9:131483390 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 1.666986 0.95032 0.92577 0.706548 0.6462262 0 0.9999991 TRUE NA ENSE00001658520_014 ENSE00001658520 014 9 134358699 134358868 + 47 87 36 C A 134358780 3172 82 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTATGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483392 131483393 131483393 exon 35 0.4022989 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTATGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 114 738 0.8 0.8003426 0.8001713 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.01322686 -0.01047317 0.8454667 0.8120213 NA -0.01185002 NA FALSE NA 1 6.7 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 1 deleterious(0) possibly_damaging(0.776) NA TCT C,A 8.271e-06 9:131483393 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 6.013429 0.96799 0.97684 0.706548 0.9940614 0 0.9999991 TRUE 4.06101e-06 ENSE00001658520_015 ENSE00001658520 015 9 134358699 134358868 + 47 87 36 C G 134358785 3173 87 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTGCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483397 131483398 131483398 exon 40 0.4597701 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTGCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 184 850 0.788502 0.8 0.794251 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.02472483 -0.01081576 0.8454667 0.8120213 NA -0.0177703 NA FALSE NA 0.848 1.845 rs144475187 missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 rs144475187 1 tolerated(0.08) benign(0.209) G:0.0004 G:0 G:0 NA G:0 G:0.002 G:0 TCC C,G 8.271e-06 9:131483398 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 0.578674 0.44364 0.71783 0.706548 0.9124978 0 0.9999991 TRUE 4.06095e-06 ENSE00001658520_016 ENSE00001658520 016 9 134358699 134358868 + 47 87 36 T C 134358790 3174 92 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACCGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483402 131483403 131483403 exon -43 0.5172414 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACCGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 1389 3621 0.9417186 0.9443369 0.9430278 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.1284917 0.1335212 0.8454667 0.8120213 NA 0.1310064 NA FALSE NA 0 -2.055 . synonymous_variant LOW PRRC2B HGNC 28121 ENST00000451855 8/9 1 NA CTG T,C 8.27e-06 9:131483403 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 synonymous_variant -0.593291 0.19981 0.12305 0.706548 0.368433 0 0.9999991 TRUE 8.12189e-06 ENSE00001658520_017 ENSE00001658520 017 9 134358699 134358868 + 47 87 36 G A 134358792 3175 94 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGAGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483404 131483405 131483405 exon -41 0.5402299 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGAGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 277 542 0.7847697 0.8 0.7923848 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.02845717 -0.01081576 0.8454667 0.8120213 NA -0.01963647 NA FALSE NA 1 5.733 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 rs199806950 1 deleterious(0) probably_damaging(0.927) A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 GGG G,A 1.654e-05 9:131483405 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 4.493101 0.94267 0.92271 0.706548 0.9801546 0 0.9999991 TRUE 8.12189e-06 ENSE00001658520_018 ENSE00001658520 018 9 134358699 134358868 + 47 87 36 G A 134358803 3176 105 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTATTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483415 131483416 131483416 exon -30 0.6666667 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTATTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 36 258 0.8 0.8100994 0.8050497 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.01322686 -0.0007163142 0.8454667 0.8120213 NA -0.006971589 NA FALSE NA 0.999 3.345 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 rs374142488 1 deleterious(0.01) benign(0.197) NA A:0 A:0.0001 TGT G,A 3.307e-05 9:131483416 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 2.342703 0.94306 0.83623 0.706548 0.9448746 0 0.9999991 TRUE 2.43659e-05 ENSE00001658520_019 ENSE00001658520 019 9 134358699 134358868 + 47 87 36 T C 134358810 3177 112 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACCTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483422 131483423 131483423 exon -23 0.7471264 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACCTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 1572 48 0.7408091 0.8 0.7704045 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.07241777 -0.01081576 0.8454667 0.8120213 NA -0.04161677 NA FALSE NA 1 6.887 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 1 deleterious(0) probably_damaging(1) NA CTT T,C 2.48e-05 9:131483423 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 5.78918 0.96047 0.97236 0.706548 0.998977 0 0.9999991 TRUE 2.03051e-05 ENSE00001658520_020 ENSE00001658520 020 9 134358699 134358868 + 47 87 36 C G 134358820 3178 122 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCGTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483432 131483433 131483433 exon -13 0.862069 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCGTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 2957 769 0.7889827 0.8003288 0.7946557 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.0242442 -0.01048698 0.8454667 0.8120213 NA -0.01736559 NA FALSE NA 0.785 -0.061 . synonymous_variant LOW PRRC2B HGNC 28121 ENST00000451855 8/9 rs376974037 1 NA G:0.0002 G:0 CCT C,G 1.653e-05 9:131483433 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 synonymous_variant 1.417544 0.85 0.66255 0.706548 0.6182663 0 0.9999991 TRUE 4.06101e-06 ENSE00001658520_021 ENSE00001658520 021 9 134358699 134358868 + 47 87 36 A T 134358827 3179 129 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCTGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483439 131483440 131483440 exon -6 0.9425287 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCTGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 106 100 0.8805069 0.8644744 0.8724907 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.06728005 0.05365866 0.8454667 0.8120213 NA 0.06046936 NA FALSE NA 1 4.937 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 1 deleterious(0) probably_damaging(0.999) NA CAG A,T 1.653e-05 9:131483440 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 5.587208 0.96222 0.97834 0.706548 0.9929688 0 0.9999991 TRUE NA ENSE00001658520_022 ENSE00001658520 022 9 134358699 134358868 + 47 87 36 G A 134358828 3180 130 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAATAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483440 131483441 131483441 exon -5 0.954023 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAATAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 564 1264 0.902693 0.9388548 0.9207739 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.08946611 0.1280391 0.8454667 0.8120213 NA 0.1087526 NA FALSE NA 1 5.018 . missense_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 1 tolerated(0.34) probably_damaging(0.998) NA AGT G,A 8.265e-06 9:131483441 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 4.033043 0.94081 0.94287 0.706548 0.9935058 0 0.9999991 TRUE 4.06101e-06 ENSE00001658520_023 ENSE00001658520 023 9 134358699 134358868 + 47 87 36 A G 134358831 3181 133 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAGTGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483443 131483444 131483444 exon -2 0.9885057 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAGTGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 363 658 0.02247947 0.04486008 0.03366978 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.7907474 -0.7659557 0.8454667 0.8120213 NA -0.7783515 NA TRUE NA 1 4.857 . missense_variant&splice_region_variant MODERATE PRRC2B HGNC 28121 ENST00000451855 8/9 rs543835820 1 deleterious(0.01) benign(0.032) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAT A,G 8.264e-06 9:131483444 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 missense_variant 2.590874 0.93343 0.95217 0.706548 0.9926768 0 0.9999991 TRUE 8.12196e-06 ENSE00001658520_024 ENSE00001658520 024 9 134358699 134358868 + 47 87 36 G A 134358833 3182 135 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATATAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483445 131483446 131483446 downstr_intron 1 1.028571 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATATAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 1463 1456 0.01533834 0.008703318 0.01202083 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.7978885 -0.8021124 0.8454667 0.8120213 NA -0.8000005 NA TRUE NA 1 8.236 . splice_donor_variant HIGH PRRC2B HGNC 28121 ENST00000451855 8/8 1 NA HC TGT G,A 8.263e-06 9:131483446 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 splice_donor_variant 4.967589 0.96784 0.98766 0.295142 0.9944534 0.976489 0.9999991 TRUE 4.06108e-06 ENSE00001658520_025 ENSE00001658520 025 9 134358699 134358868 + 47 87 36 T G 134358834 3183 136 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGGAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483446 131483447 131483447 downstr_intron 2 1.057143 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGGAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 88 1584 0 0.003842941 0.001921471 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.8132269 -0.8069728 0.8454667 0.8120213 NA -0.8100998 NA TRUE NA 1 6.701 . splice_donor_variant HIGH PRRC2B HGNC 28121 ENST00000451855 8/8 1 NA HC GTA T,G 8.263e-06 9:131483447 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 splice_donor_variant 4.265538 0.96175 0.98371 0.295142 0.9938743 0.960547 0.9999991 TRUE 4.06101e-06 ENSE00001658520_026 ENSE00001658520 026 9 134358699 134358868 + 47 87 36 A G 134358841 3184 143 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCGCACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483453 131483454 131483454 downstr_intron 9 1.257143 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCGCACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 119 1064 0.9006681 0.9031902 0.9019291 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.08744122 0.0923744 0.8454667 0.8120213 NA 0.08990781 NA FALSE NA 0 -0.463 rs184504924 intron_variant MODIFIER PRRC2B HGNC 28121 ENST00000451855 8/8 rs184504924 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAC A,G 1.652e-05 9:131483454 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.305621 0.14577 0.0162 0.115753 0.6748738 0.0942659 0.9999991 TRUE 2.43665e-05 ENSE00001658520_027 ENSE00001658520 027 9 134358699 134358868 + 47 87 36 A C 134358843 3185 145 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACCCTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483455 131483456 131483456 downstr_intron 11 1.314286 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACCCTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 201 529 0.9521695 0.9567305 0.95445 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.1389426 0.1459147 0.8454667 0.8120213 NA 0.1424287 NA FALSE NA 0 -0.47 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:131483456 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.006068 0.13993 0.08097 0.115753 0.5457657 0.0942659 0.9999991 TRUE 8.12222e-06 ENSE00001658520_028 ENSE00001658520 028 9 134358699 134358868 + 47 87 36 A G 134358843 3186 145 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACGCTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 131483455 131483456 131483456 downstr_intron 11 1.314286 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACGCTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 571 678 0.8 0.6370331 0.7185165 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.01322686 -0.1737827 0.8454667 0.8120213 NA -0.09350479 NA FALSE NA 0 -0.47 NA NA NA PRRC2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRRC2B NA NA NA ENSG00000130723 ENSE00003631378 intron_variant 0.237716 0.10104 0.02927 0.115753 0.5480074 0.0942659 0.9999991 TRUE 2.43667e-05 ENSE00001658520_029 ENSE00001658520 029 9 134358699 134358868 + 47 87 36 C A 134358848 3187 150 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCAACTTTTGGCTCCACTCACTG 131483311 131483481 131483460 131483461 131483461 downstr_intron 16 1.457143 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCAACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 415 1930 0.8989603 0.7629933 0.8309768 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.08573348 -0.04782248 0.8454667 0.8120213 NA 0.0189555 NA FALSE NA 0 -1.185 rs139220950 intron_variant MODIFIER PRRC2B HGNC 28121 ENST00000451855 8/8 rs139220950 1 A:0.0032 A:0.0113 A:0.0014 NA A:0 A:0 A:0 A:0.0092 A:0.0002 CCA C,A 0.001074 9:131483461 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.165118 0.237 0.20366 0.115753 0.3963134 0.0645167 0.9999991 TRUE 0.000917826 ENSE00001658520_030 ENSE00001658520 030 9 134358699 134358868 + 47 87 36 T G 134358853 3188 155 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTGTGGCTCCACTCACTG 131483311 131483481 131483465 131483466 131483466 downstr_intron 21 1.6 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTGTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 57 776 0.8 0.6573796 0.7286898 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.01322686 -0.1534362 0.8454667 0.8120213 NA -0.08333151 NA FALSE NA 0 0.309 . intron_variant MODIFIER PRRC2B HGNC 28121 ENST00000451855 8/8 rs373820162 1 NA G:0 G:0.0001 TTT C,G 4.957e-05 9:131483466 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.313955 0.22086 0.04609 0.115753 0.1801344 0.0645167 0.9999991 TRUE 2.8428e-05 ENSE00001658520_031 ENSE00001658520 031 9 134358699 134358868 + 47 87 36 C T 134358857 3189 159 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGTTCCACTCACTG 131483311 131483481 131483469 131483470 131483470 downstr_intron 25 1.714286 GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGTTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG mutant NA NA NA NA NA 2128 248 0.9543981 0.9502637 0.9523309 0.8446362 0.8462971 0.8132269 0.8108158 NA NA 0.1411712 0.1394479 0.8454667 0.8120213 NA 0.1403096 NA FALSE NA 0 1.054 . intron_variant MODIFIER PRRC2B HGNC 28121 ENST00000451855 8/8 1 NA GCT C,T 8.263e-06 9:131483470 PRRC2B HGNC Symbol protein_coding 126561 ENSG00000130723 ENSE00003631378 intron_variant 0.329259 0.30793 0.17134 0.115753 0.246877 0.0645167 0.9999991 TRUE 4.06151e-06 ENSE00001658520_BRK ENSE00001658520 BRK 9 134358699 134358868 + 47 87 36 A,G; T,T NA NA NA GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCTTGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATCCAAGTCCACACTTCCACTTTTGGCTCCACTCACTG 131483311 131483481 NA NA NA NA NA NA GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCTTGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATCCAAGTCCACACTTCCACTTTTGGCTCCACTCACTG GGCCAGGAGGATCTCAGTGGGCTGTGTGGCCTTTTTTATTTTTTCAGGACTCCGATTTCAGCTTGCCACCTGGTTCTGCCTCTGGTCCTACTGGGAGTCCAGTTGTTAAACTTCAGGATGCCTTGGCCAGTAATGTAAGTCCACACTTCCACTTTTGGCTCCACTCACTG control NA NA NA NA NA 574 203 0.008504814 0.001579542 0.005042178 0.8446362 0.8462971 0.8132269 0.8108158 NA NA -0.804722 -0.8092362 0.8454667 0.8120213 NA -0.8069791 NA TRUE NA NA NA NA NA NA PRRC2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRRC2B NA NA NA ENSG00000130723 ENSE00003631378 NA NA NA NA NA NA NA 0.9999991 TRUE NA ENSE00001659382_000 ENSE00001659382 000 14 103928680 103928849 + 62 57 51 NA NA NA NA NA TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 NA NA NA NA NA NA TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT natural 112 89 0.9856385 0.9973842 0.9915114 5802 6282 0.9202076 0.909642 0.9149248 0.9856385 0.9973842 0.9202076 0.909642 0 0 0 0 0.9915114 0.9149248 0 0 0 FALSE FALSE NA NA NA NA NA MARK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARK3 NA NA NA ENSG00000075413 ENSE00003608398 NA NA NA NA NA NA NA 6.11449e-05 FALSE NA ENSE00001659382_001 ENSE00001659382 001 14 103928680 103928849 + 62 57 51 C T 103928697 1757 18 TATTTTCATCTTAATTATGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462359 103462360 103462360 upstr_intron -45 -0.7096774 TATTTTCATCTTAATTATGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 1131 361 0.9981573 0.9994558 0.9988065 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07794969 0.08981384 0.9915114 0.9149248 NA 0.08388177 NA FALSE NA 0 -0.566 . intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 5/6 1 NA ACG C,T 0.0001653 14:103462360 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant -0.177256 0.08414 0.00119 0.295142 0.7622903 0.122471 6.11449e-05 FALSE 0.000164656 ENSE00001659382_002 ENSE00001659382 002 14 103928680 103928849 + 62 57 51 G A 103928698 1758 19 TATTTTCATCTTAATTACAAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462360 103462361 103462361 upstr_intron -44 -0.6935484 TATTTTCATCTTAATTACAAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 343 231 1 1 1 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07979243 0.09035803 0.9915114 0.9149248 NA 0.08507523 NA FALSE NA 0 0.043 . intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 5/6 1 NA CGA G,A 6.614e-05 14:103462361 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant -0.044931 0.19009 0.02252 0.295142 0.6793147 0.111799 6.11449e-05 FALSE 6.57662e-05 ENSE00001659382_003 ENSE00001659382 003 14 103928680 103928849 + 62 57 51 A G 103928699 1759 20 TATTTTCATCTTAATTACGGATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462361 103462362 103462362 upstr_intron -43 -0.6774194 TATTTTCATCTTAATTACGGATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 878 311 0.9962716 0.9993682 0.9978199 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.076064 0.08972623 0.9915114 0.9149248 NA 0.08289511 NA FALSE NA 0 0.001 . intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 5/6 1 NA GAA A,G 8.267e-06 14:103462362 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant 0.087151 0.18714 0.04048 0.295142 0.2497584 0.151386 6.11449e-05 FALSE 4.10226e-06 ENSE00001659382_004 ENSE00001659382 004 14 103928680 103928849 + 62 57 51 C T 103928705 1760 26 TATTTTCATCTTAATTACGAATCTGTACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462367 103462368 103462368 upstr_intron -37 -0.5806452 TATTTTCATCTTAATTACGAATCTGTACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant 35 16 1 0.9988423 0.9994212 536 403 0.9996371 0.9987255 0.9991813 0.9856385 0.9973842 0.9202076 0.909642 0.0143615 0.001458126 0.07942948 0.08908355 0.9915114 0.9149248 0.007909813 0.08425652 0.0763467 FALSE FALSE 0 -0.554 . intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 5/6 1 NA GCA C,T 8.266e-06 14:103462368 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant -0.124628 0.14614 0.01486 0.295142 0.7623466 0.160745 6.11449e-05 FALSE 4.0948e-06 ENSE00001659382_005 ENSE00001659382 005 14 103928680 103928849 + 62 57 51 A G 103928706 1761 27 TATTTTCATCTTAATTACGAATCTGCGCCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462368 103462369 103462369 upstr_intron -36 -0.5645161 TATTTTCATCTTAATTACGAATCTGCGCCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 2037 1048 0.9977725 0.997339 0.9975557 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07756489 0.08769707 0.9915114 0.9149248 NA 0.08263098 NA FALSE NA 0 0.022 . intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 5/6 1 NA CAC A,G 8.267e-06 14:103462369 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant 0.027311 0.13899 0.06259 0.295142 0.2038748 0.160745 6.11449e-05 FALSE 8.19847e-06 ENSE00001659382_007 ENSE00001659382 007 14 103928680 103928849 + 62 57 51 C T 103928726 1763 47 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGTGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462388 103462389 103462389 upstr_intron -16 -0.2419355 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGTGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 510 61 1 0.9627185 0.9813592 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07979243 0.0530765 0.9915114 0.9149248 NA 0.06643446 NA FALSE NA 0 -0.068 . intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 5/6 rs201120664 1 NA GCG C,T 8.267e-06 14:103462389 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant -0.297428 0.22932 0.03939 0.295142 0.6210871 0.160745 6.11449e-05 FALSE 1.22272e-05 ENSE00001659382_008 ENSE00001659382 008 14 103928680 103928849 + 62 57 51 G A 103928727 1764 48 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCATCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462389 103462390 103462390 upstr_intron -15 -0.2258065 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCATCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 867 2333 0.9989031 1 0.9994516 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07869555 0.09035803 0.9915114 0.9149248 NA 0.08452679 NA FALSE NA 0 -2.978 . intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 5/6 rs377549185 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0032 A:0 CGT G,A 0.0002315 14:103462390 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant -0.335643 0.13038 0.05808 0.295142 0.6218837 0.160745 6.11449e-05 FALSE 0.000183358 ENSE00001659382_010 ENSE00001659382 010 14 103928680 103928849 + 62 57 51 A G 103928736 1766 57 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTGTTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462398 103462399 103462399 upstr_intron -6 -0.08064516 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTGTTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 101 481 0.9958528 0.9996711 0.9977619 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.0756452 0.09002909 0.9915114 0.9149248 NA 0.08283714 NA FALSE NA 0 -1.815 . splice_region_variant&intron_variant LOW MARK3 HGNC 6897 ENST00000560417 5/6 rs373197790 1 NA G:0 G:0.0001 TAT A,G 2.48e-05 14:103462399 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 splice_region_variant -0.401254 0.12474 0.03067 0.295142 0.4459344 0.160816 6.11449e-05 FALSE 1.21921e-05 ENSE00001659382_011 ENSE00001659382 011 14 103928680 103928849 + 62 57 51 T C 103928738 1767 59 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATCCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462400 103462401 103462401 upstr_intron -4 -0.0483871 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATCCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 194 303 0.9965557 0.9904127 0.9934842 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07634808 0.08077069 0.9915114 0.9149248 NA 0.07855938 NA FALSE NA 0 -0.159 . splice_region_variant&intron_variant LOW MARK3 HGNC 6897 ENST00000560417 5/6 1 NA TTC T,C 8.268e-06 14:103462401 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 splice_region_variant -0.129408 0.24819 0.02883 0.295142 0.2988649 0.177129 6.11449e-05 FALSE 4.06372e-06 ENSE00001659382_013 ENSE00001659382 013 14 103928680 103928849 + 62 57 51 A G 103928742 1769 63 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGGTTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462404 103462405 103462405 exon 1 0.01754386 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGGTTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 15 45 1 1 1 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07979243 0.09035803 0.9915114 0.9149248 NA 0.08507523 NA FALSE NA 1 9.291 . missense_variant&splice_region_variant MODERATE MARK3 HGNC 6897 ENST00000560417 6/7 1 deleterious_low_confidence(0.05) benign(0.159) NA GAT A,G 8.267e-06 14:103462405 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 missense_variant 2.430077 0.99033 0.99474 0.732398 0.9415588 0 6.11449e-05 FALSE 8.12625e-06 ENSE00001659382_014 ENSE00001659382 014 14 103928680 103928849 + 62 57 51 T C 103928743 1770 64 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGACTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462405 103462406 103462406 exon 2 0.03508772 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGACTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 778 305 0.9854329 0.8908279 0.9381304 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.06522538 -0.01881403 0.9915114 0.9149248 NA 0.02320567 NA FALSE NA 1 7.999 . missense_variant&splice_region_variant MODERATE MARK3 HGNC 6897 ENST00000560417 6/7 rs376017188 1 deleterious_low_confidence(0) probably_damaging(0.954) NA C:0.0002 C:0 ATT T,C 8.267e-06 14:103462406 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 missense_variant 4.802032 0.99413 0.9936 0.732398 0.9931395 0 6.11449e-05 FALSE NA ENSE00001659382_015 ENSE00001659382 015 14 103928680 103928849 + 62 57 51 A G 103928759 1771 80 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAGTACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462421 103462422 103462422 exon 18 0.3157895 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAGTACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant 44 17 0.9520798 0.9941596 0.9731197 23 57 0.9981969 1 0.9990984 0.9856385 0.9973842 0.9202076 0.909642 -0.03355872 -0.003224628 0.07798928 0.09035803 0.9915114 0.9149248 -0.01839167 0.08417366 0.1025653 FALSE FALSE 1 3.024 . synonymous_variant LOW MARK3 HGNC 6897 ENST00000560417 6/7 rs370805910 1 G:0.0008 G:0 G:0 NA G:0 G:0 G:0.0041 G:0 G:0.0001 AAT A,G 0.0003389 14:103462422 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 synonymous_variant -0.484098 0.96167 0.27145 0.732398 0.4096956 0 6.11449e-05 FALSE 0.000308682 ENSE00001659382_018 ENSE00001659382 018 14 103928680 103928849 + 62 57 51 A G 103928797 1774 118 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAGGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462459 103462460 103462460 exon -2 0.9824561 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAGGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 1134 945 0.9979129 1 0.9989564 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07770532 0.09035803 0.9915114 0.9149248 NA 0.08403167 NA FALSE NA 1 9.291 . missense_variant&splice_region_variant MODERATE MARK3 HGNC 6897 ENST00000560417 6/7 1 deleterious_low_confidence(0.02) probably_damaging(0.996) NA AAG A,G 8.269e-06 14:103462460 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 missense_variant 5.157532 0.99456 0.99633 0.732398 0.9981803 0 6.11449e-05 FALSE 4.06322e-06 ENSE00001659382_019 ENSE00001659382 019 14 103928680 103928849 + 62 57 51 C T 103928819 1775 140 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTTAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462481 103462482 103462482 downstr_intron 21 1.42 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTTAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant 53 41 0.85 0.85 0.85 1000 294 0.8900079 0.9994617 0.9447348 0.9856385 0.9973842 0.9202076 0.909642 -0.1356385 -0.1473842 -0.03019963 0.08981972 0.9915114 0.9149248 -0.1415114 0.02981004 0.1713214 FALSE FALSE 0 0.152 rs10145934 intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 6/6 rs10145934 1 T:0.0329 T:0.121 T:0.0072 NA T:0 T:0 T:0 T:0.0848 T:0.0007 TCA C,T 0.008054 14:103462482 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant 0.063827 0.12875 0.05557 0.156188 0.7457023 0.0511418 6.11449e-05 FALSE 0.00674521 ENSE00001659382_020 ENSE00001659382 020 14 103928680 103928849 + 62 57 51 T C 103928822 1776 143 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGCGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 103462484 103462485 103462485 downstr_intron 24 1.48 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGCGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 1372 144 0.9995492 0.9989001 0.9992247 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07934163 0.08925816 0.9915114 0.9149248 NA 0.08429989 NA FALSE NA 0 -0.239 . intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 6/6 1 NA GTG T,C 1.654e-05 14:103462485 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant 0.046607 0.20661 0.03432 0.156188 0.4694668 0.0511418 6.11449e-05 FALSE 2.44636e-05 ENSE00001659382_021 ENSE00001659382 021 14 103928680 103928849 + 62 57 51 T C 103928838 1777 159 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTCTGTGTGCAGTT 103462342 103462512 103462500 103462501 103462501 downstr_intron 40 1.8 TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTCTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT mutant NA NA NA NA NA 256 260 1 1 1 0.9856385 0.9973842 0.9202076 0.909642 NA NA 0.07979243 0.09035803 0.9915114 0.9149248 NA 0.08507523 NA FALSE NA 0 -0.711 rs182399811 intron_variant MODIFIER MARK3 HGNC 6897 ENST00000560417 6/6 rs182399811 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TTT T,C 7.443e-05 14:103462501 MARK3 HGNC Symbol protein_coding 118439 ENSG00000075413 ENSE00003608398 intron_variant -0.199071 0.11305 0.03491 0.295142 0.2075888 0.0511418 6.11449e-05 FALSE 0.000141048 ENSE00001659382_BRK ENSE00001659382 BRK 14 103928680 103928849 + 62 57 51 A,G; T,T NA NA NA TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCTTATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGCCGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT 103462342 103462512 NA NA NA NA NA NA TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCTTATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGCCGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT TATTTTCATCTTAATTACGAATCTGCACCAGTGATGACTGACTCTGCGTCTCTCCTATTCAGATTGTGTCTGCAGTTCAATACTGCCATCAGAAACGGATCGTACATCGAGACCTCAAGGTGAGTAGAAGTGCCTCACTCAGTGTATGCTCTGTCTGTTTGTGTGCAGTT control 22 23 0 0 0 NA NA NA NA NA 0.9856385 0.9973842 0.9202076 0.909642 -0.9856385 -0.9973842 NA NA 0.9915114 0.9149248 -0.9915114 NA NA NA TRUE NA NA NA NA NA MARK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARK3 NA NA NA ENSG00000075413 ENSE00003608398 NA NA NA NA NA NA NA 6.11449e-05 FALSE NA ENSE00001659433_000 ENSE00001659433 000 17 17049288 17049457 + 62 57 51 NA NA NA NA NA ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG 17145973 17146143 NA NA NA NA NA NA ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG natural NA NA NA NA NA 1435 1254 0.9985704 0.9576665 0.9781185 NA NA 0.9985704 0.9576665 NA NA 0 0 NA 0.9781185 NA 0 NA FALSE NA NA NA NA NA NA MPRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPRIP NA NA NA ENSG00000133030 ENSE00001659433 NA NA NA NA NA NA NA 0.870658 FALSE NA ENSE00001659433_002 ENSE00001659433 002 17 17049288 17049457 + 62 57 51 A C 17049302 810 15 ATCAGACACTCATGCCACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG 17145973 17146143 17145987 17145988 17145988 upstr_intron -48 -0.7580645 ATCAGACACTCATGCCACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG mutant NA NA NA NA NA 55 189 1 1 1 NA NA 0.9985704 0.9576665 NA NA 0.001429582 0.04233345 NA 0.9781185 NA 0.02188152 NA FALSE NA 0.001 0.307 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA GAC A,C 8.24e-06 17:17145988 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001659433 intron_variant 0.036336 0.20507 0.09747 0.099367 0.3141924 0.046875 0.870658 FALSE 4.22947e-06 ENSE00001659433_004 ENSE00001659433 004 17 17049288 17049457 + 62 57 51 C T 17049317 812 30 ATCAGACACTCATGACACTAGAAGAGTTTTCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG 17145973 17146143 17146002 17146003 17146003 upstr_intron -33 -0.516129 ATCAGACACTCATGACACTAGAAGAGTTTTCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG mutant NA NA NA NA NA 117 54 1 1 1 NA NA 0.9985704 0.9576665 NA NA 0.001429582 0.04233345 NA 0.9781185 NA 0.02188152 NA FALSE NA 0 0.069 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA TCC C,T 8.238e-06 17:17146003 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001659433 intron_variant 0.133276 0.26609 0.01822 0.099367 0.6132585 0.0968874 0.870658 FALSE 1.23373e-05 ENSE00001659433_005 ENSE00001659433 005 17 17049288 17049457 + 62 57 51 T G 17049319 813 32 ATCAGACACTCATGACACTAGAAGAGTTTCCGCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG 17145973 17146143 17146004 17146005 17146005 upstr_intron -31 -0.483871 ATCAGACACTCATGACACTAGAAGAGTTTCCGCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG mutant NA NA NA NA NA 746 93 1 1 1 NA NA 0.9985704 0.9576665 NA NA 0.001429582 0.04233345 NA 0.9781185 NA 0.02188152 NA FALSE NA 0.723 1.209 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 1 NA CTC T,G 3.295e-05 17:17146005 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001659433 intron_variant 0.474471 0.28082 0.43926 0.099367 0.6546041 0.0968874 0.870658 FALSE 3.28383e-05 ENSE00001659433_015 ENSE00001659433 015 17 17049288 17049457 + 62 57 51 G A 17049401 823 114 ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACAGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG 17145973 17146143 17146086 17146087 17146087 exon -6 0.9122807 ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACAGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG ATCAGACACTCATGACACTAGAAGAGTTTCCTCTGAGCTGTTCTTTTTTCTCCCTTTCTCAGCCCGACCTGCTGAATTTCAAGAAAGGCTGGCTGACTAAGCAGTATGAGGACGGCCAGGTGAGTGTGCAGGGTTGCCGTGGCCCCTGAGGGATCTGGGGACAGGGTGAG mutant NA NA NA NA NA 66 38 1 1 1 NA NA 0.9985704 0.9576665 NA NA 0.001429582 0.04233345 NA 0.9781185 NA 0.02188152 NA FALSE NA 1 5.169 . upstream_gene_variant MODIFIER MPRIP HGNC 30321 ENST00000581955 rs368930105 1 NA A:0.0002 A:0 CGG G,A 2.471e-05 17:17146087 MPRIP HGNC Symbol protein_coding 175134 ENSG00000133030 ENSE00001659433 missense_variant 3.703343 0.98596 0.98567 0.615465 0.9975592 0 0.870658 FALSE 4.06974e-05 ENSE00001659445_000 ENSE00001659445 000 17 27794109 27794278 + 54 72 44 NA NA NA NA NA CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT 29467090 29467260 NA NA NA NA NA NA CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT natural NA NA NA NA NA 4095 2985 0.9954988 0.9849272 0.990213 NA NA 0.9954988 0.9849272 NA NA 0 0 NA 0.990213 NA 0 NA FALSE NA NA NA NA NA NA TAOK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAOK1 NA NA NA ENSG00000160551 ENSE00001659445 NA NA NA NA NA NA NA 0.9999997 TRUE NA ENSE00001659445_003 ENSE00001659445 003 17 27794109 27794278 + 54 72 44 T G 27794145 1234 37 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTGCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT 29467090 29467260 29467126 29467127 29467127 upstr_intron -18 -0.3148148 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTGCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT mutant NA NA NA NA NA 11 44 1 1 1 NA NA 0.9954988 0.9849272 NA NA 0.004501169 0.01507275 NA 0.990213 NA 0.009786961 NA FALSE NA 0.942 0.753 . intron_variant MODIFIER TAOK1 HGNC 29259 ENST00000261716 2/19 1 NA TTC T,G 2.471e-05 17:29467127 TAOK1 HGNC Symbol protein_coding 161440 ENSG00000160551 ENSE00001659445 intron_variant -0.105016 0.31634 0.21077 0.099367 0.4991758 0.0840473 0.9999997 TRUE 1.77002e-05 ENSE00001659445_006 ENSE00001659445 006 17 27794109 27794278 + 54 72 44 G A 27794189 1237 81 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTAGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT 29467090 29467260 29467170 29467171 29467171 exon 27 0.375 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTAGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT mutant NA NA NA NA NA 315 208 0.9886169 0.9791483 0.9838826 NA NA 0.9954988 0.9849272 NA NA -0.006881933 -0.005778903 NA 0.990213 NA -0.006330418 NA FALSE NA 1 3.938 . synonymous_variant LOW TAOK1 HGNC 29259 ENST00000261716 3/20 1 NA TGG G,A 6.589e-05 17:29467171 TAOK1 HGNC Symbol protein_coding 161440 ENSG00000160551 ENSE00001659445 synonymous_variant 1.224397 0.98014 0.95104 0.732398 0.7317531 0 0.9999997 TRUE 5.70242e-05 ENSE00001659445_009 ENSE00001659445 009 17 27794109 27794278 + 54 72 44 T C 27794216 1240 108 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGCGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT 29467090 29467260 29467197 29467198 29467198 exon -19 0.75 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGCGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT mutant NA NA NA NA NA 12 1367 1 0.9999722 0.9999861 NA NA 0.9954988 0.9849272 NA NA 0.004501169 0.01504491 NA 0.990213 NA 0.009773039 NA FALSE NA 1 2.112 . synonymous_variant LOW TAOK1 HGNC 29259 ENST00000261716 3/20 1 NA GTG T,C 8.236e-06 17:29467198 TAOK1 HGNC Symbol protein_coding 161440 ENSG00000160551 ENSE00001659445 synonymous_variant 0.723155 0.979 0.90222 0.732398 0.7796394 0 0.9999997 TRUE NA ENSE00001659445_011 ENSE00001659445 011 17 27794109 27794278 + 54 72 44 G C 27794238 1242 130 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTACGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT 29467090 29467260 29467219 29467220 29467220 downstr_intron 4 1.093023 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTACGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT mutant NA NA NA NA NA 38 1718 1 0.9978219 0.998911 NA NA 0.9954988 0.9849272 NA NA 0.004501169 0.01289466 NA 0.990213 NA 0.008697916 NA FALSE NA 0.998 0.535 . splice_region_variant&intron_variant LOW TAOK1 HGNC 29259 ENST00000261716 3/19 1 NA AGG G,C 8.236e-06 17:29467220 TAOK1 HGNC Symbol protein_coding 161440 ENSG00000160551 ENSE00001659445 splice_region_variant 1.315511 0.97142 0.90645 0.088506 0.8090028 0.412197 0.9999997 TRUE 4.21159e-06 ENSE00001659445_012 ENSE00001659445 012 17 27794109 27794278 + 54 72 44 G A 27794239 1243 131 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGATTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT 29467090 29467260 29467220 29467221 29467221 downstr_intron 5 1.116279 CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGATTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT CCTAGATTTCACCTGTTAATTTTTACAGTGCTTCTTTCTTTCTTTCTTCTTTAGGCACGAGATGTGCGTACCAATGAAGTGGTGGCCATCAAGAAAATGTCTTATAGTGGAAAGCAGTCTACTGAGGTAGGTTAAATATGTACATTCTTGTTTTTTTCTTATATTTATCT mutant NA NA NA NA NA 152 1423 1 0.9926863 0.9963431 NA NA 0.9954988 0.9849272 NA NA 0.004501169 0.007759018 NA 0.990213 NA 0.006130093 NA FALSE NA 1 4.68 . splice_region_variant&intron_variant LOW TAOK1 HGNC 29259 ENST00000261716 3/19 1 NA GGT G,A 1.647e-05 17:29467221 TAOK1 HGNC Symbol protein_coding 161440 ENSG00000160551 ENSE00001659445 splice_region_variant 2.410103 0.99442 0.97695 0.088506 0.9777468 0.983331 0.9999997 TRUE 1.26442e-05 ENSE00001659705_000 ENSE00001659705 000 13 52656332 52656501 - 42 75 53 NA NA NA NA NA GATTCTCAATGATTTGGCCCATACTAAGAATTATTATTATCTTTTTTTTTTAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAA 52082195 52082365 NA NA NA NA NA NA GATTCTCAATGATTTGGCCCATACTAAGAATTATTATTATCTTTTTTTTTTAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAA GATTCTCAATGATTTGGCCCATACTAAGAATTATTATTATCTTTTTTTTTTAGATGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAA natural 10 41 0.9509201 0.9816913 0.9663057 185 220 0.9227783 0.9087871 0.9157827 0.9509201 0.9816913 0.9227783 0.9087871 0 0 0 0 0.9663057 0.9157827 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001659705 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001659778_000 ENSE00001659778 000 11 62651873 62652042 + 56 69 45 NA NA NA NA NA TTCTGAGCCTTTTCCTGAGAACTGATGTCTGTCCTTTATTCTTCTGCCCCCTATAGGATGCTCTGGAGTTTTGGCTGCAAGCTGGCGTGGATGGGTTCCAGGTTCGGGACATAGAGAATCTGAAGGTGAGTTCCCTTTCCACATTAGGGACAAAGCTTGGGCGAGAACAG 62884400 62884570 NA NA NA NA NA NA TTCTGAGCCTTTTCCTGAGAACTGATGTCTGTCCTTTATTCTTCTGCCCCCTATAGGATGCTCTGGAGTTTTGGCTGCAAGCTGGCGTGGATGGGTTCCAGGTTCGGGACATAGAGAATCTGAAGGTGAGTTCCCTTTCCACATTAGGGACAAAGCTTGGGCGAGAACAG TTCTGAGCCTTTTCCTGAGAACTGATGTCTGTCCTTTATTCTTCTGCCCCCTATAGGATGCTCTGGAGTTTTGGCTGCAAGCTGGCGTGGATGGGTTCCAGGTTCGGGACATAGAGAATCTGAAGGTGAGTTCCCTTTCCACATTAGGGACAAAGCTTGGGCGAGAACAG natural NA NA NA NA NA 320 82 0.9967398 1 0.9983699 NA NA 0.9967398 1 NA NA 0 0 NA 0.9983699 NA 0 NA FALSE NA NA NA NA NA NA SLC3A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC3A2 NA NA NA ENSG00000168003 ENSE00003660800 NA NA NA NA NA NA NA 0.9232342 TRUE NA ENSE00001659778_015 ENSE00001659778 015 11 62651873 62652042 + 56 69 45 C G 62652023 1571 151 TTCTGAGCCTTTTCCTGAGAACTGATGTCTGTCCTTTATTCTTCTGCCCCCTATAGGATGCTCTGGAGTTTTGGCTGCAAGCTGGCGTGGATGGGTTCCAGGTTCGGGACATAGAGAATCTGAAGGTGAGTTCCCTTTCCACATTAGGGAGAAAGCTTGGGCGAGAACAG 62884400 62884570 62884550 62884551 62884551 downstr_intron 26 1.590909 TTCTGAGCCTTTTCCTGAGAACTGATGTCTGTCCTTTATTCTTCTGCCCCCTATAGGATGCTCTGGAGTTTTGGCTGCAAGCTGGCGTGGATGGGTTCCAGGTTCGGGACATAGAGAATCTGAAGGTGAGTTCCCTTTCCACATTAGGGAGAAAGCTTGGGCGAGAACAG TTCTGAGCCTTTTCCTGAGAACTGATGTCTGTCCTTTATTCTTCTGCCCCCTATAGGATGCTCTGGAGTTTTGGCTGCAAGCTGGCGTGGATGGGTTCCAGGTTCGGGACATAGAGAATCTGAAGGTGAGTTCCCTTTCCACATTAGGGACAAAGCTTGGGCGAGAACAG mutant NA NA NA NA NA 110 91 1 0.9529151 0.9764576 NA NA 0.9967398 1 NA NA 0.003260163 -0.0470849 NA 0.9983699 NA -0.02191237 NA FALSE NA 0.007 0.662 . intron_variant MODIFIER SLC3A2 HGNC 11026 ENST00000377892 8/12 rs367621753 1 NA G:0 G:0.0001 ACA C,G 1.647e-05 11:62884551 SLC3A2 HGNC Symbol protein_coding 32773 ENSG00000168003 ENSE00003660800 intron_variant 1.726663 0.40382 0.49154 0 0.8560111 0.939737 0.9232342 TRUE 1.2182e-05 ENSE00001660309_000 ENSE00001660309 000 12 54799603 54799772 - 51 57 62 NA NA NA NA NA TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 NA NA NA NA NA NA TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC natural 25 60 0.85 0.7774072 0.8137036 2174 1115 0.8619929 0.7855596 0.8237762 0.85 0.7774072 0.8619929 0.7855596 0 0 0 0 0.8137036 0.8237762 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003522800 NA NA NA NA NA NA NA NA NA NA ENSE00001660309_011 ENSE00001660309 011 12 54799603 54799772 - 51 57 62 A G 54799696 1904 77 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAACGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405911 54405912 54405912 exon 15 0.2631579 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAACGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 508 1747 0.971337 0.9691016 0.9702193 0.85 0.7774072 0.8619929 0.7855596 NA NA 0.1093441 0.183542 0.8137036 0.8237762 NA 0.1464431 NA FALSE NA 1 0.729 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003522800 synonymous_variant 0.598193 0.93008 0.77529 0.67177 0.9010614 0 0.008565806 FALSE 1.62438e-05 ENSE00001660309_015 ENSE00001660309 015 12 54799603 54799772 - 51 57 62 T G 54799727 1908 46 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTCTCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405942 54405943 54405943 upstr_intron -17 -0.2580645 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTCTCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 110 585 1 0.9934295 0.9967148 0.85 0.7774072 0.8619929 0.7855596 NA NA 0.1380071 0.2078699 0.8137036 0.8237762 NA 0.1729385 NA FALSE NA 0 -1.948 NA NA NA ITGA5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGA5 NA NA NA ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant 2.180437 0.18465 0.06195 0.115753 0.8550653 0.183973 0.9997981 TRUE 4.06141e-06 ENSE00001660611_000 ENSE00001660611 000 10 53814193 53814362 + 51 78 41 NA NA NA NA NA TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 NA NA NA NA NA NA TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC natural 63 62 0.9983856 0.9957046 0.9970451 1751 2149 0.9061984 0.9917885 0.9489934 0.9983856 0.9957046 0.9061984 0.9917885 0 0 0 0 0.9970451 0.9489934 0 0 0 FALSE FALSE NA NA NA NA NA PRKG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKG1 NA NA NA ENSG00000185532 ENSE00003487488 NA NA NA NA NA NA NA 0.9997437 TRUE NA ENSE00001660611_001 ENSE00001660611 001 10 53814193 53814362 + 51 78 41 T C 53814204 864 12 TGGTAACTTACCGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054443 52054444 52054444 upstr_intron -40 -0.7647059 TGGTAACTTACCGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant 44 13 0.9983434 0.9957884 0.9970659 794 218 0.9989588 1 0.9994794 0.9983856 0.9957046 0.9061984 0.9917885 -4.219608e-05 8.377032e-05 0.0927604 0.008211456 0.9970451 0.9489934 2.078712e-05 0.05048593 0.05046514 FALSE FALSE 0.013 1.858 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 4/6 rs547015369 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTG T,C 8.238e-06 10:52054444 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant 0.152939 0.22465 0.04745 0.053691 0.6317796 0.099547 0.9997437 TRUE 8.37647e-06 ENSE00001660611_002 ENSE00001660611 002 10 53814193 53814362 + 51 78 41 T C 53814212 865 20 TGGTAACTTACTGCTTGCTCAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054451 52054452 52054452 upstr_intron -32 -0.6078431 TGGTAACTTACTGCTTGCTCAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 59 445 0.9898069 1 0.9949034 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.08360851 0.008211456 0.9970451 0.9489934 NA 0.04590999 NA FALSE NA 0.358 0.862 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 4/6 1 NA TTA T,C 1.648e-05 10:52054452 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant 0.406047 0.34047 0.42736 0.053691 0.7832161 0.099547 0.9997437 TRUE 8.27102e-06 ENSE00001660611_003 ENSE00001660611 003 10 53814193 53814362 + 51 78 41 A C 53814213 866 21 TGGTAACTTACTGCTTGCTTCATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054452 52054453 52054453 upstr_intron -31 -0.5882353 TGGTAACTTACTGCTTGCTTCATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 223 37 1 1 1 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.09380165 0.008211456 0.9970451 0.9489934 NA 0.05100655 NA FALSE NA 0.983 1.598 NA NA NA PRKG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:52054453 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant 0.567915 0.36614 0.33792 0.053691 0.8625475 0.099547 0.9997437 TRUE 4.13425e-06 ENSE00001660611_005 ENSE00001660611 005 10 53814193 53814362 + 51 78 41 T A 53814222 868 30 TGGTAACTTACTGCTTGCTTAATTTTTTTACTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054461 52054462 52054462 upstr_intron -22 -0.4117647 TGGTAACTTACTGCTTGCTTAATTTTTTTACTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 62 1165 0.9813591 0.9973021 0.9893306 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.0751607 0.005513578 0.9970451 0.9489934 NA 0.04033714 NA FALSE NA 0.923 6.084 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 4/6 1 NA TTC T,A 1.648e-05 10:52054462 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant 1.458387 0.44424 0.96989 0.053691 0.8094907 0.0436289 0.9997437 TRUE 8.21463e-06 ENSE00001660611_008 ENSE00001660611 008 10 53814193 53814362 + 51 78 41 T C 53814230 871 38 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGCTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054469 52054470 52054470 upstr_intron -14 -0.254902 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGCTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 68 249 1 1 1 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.09380165 0.008211456 0.9970451 0.9489934 NA 0.05100655 NA FALSE NA 0.56 1.229 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 4/6 1 NA GTT T,C 8.238e-06 10:52054470 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant 1.092484 0.24195 0.10141 0.053691 0.8455955 0.050703 0.9997437 TRUE 4.09092e-06 ENSE00001660611_009 ENSE00001660611 009 10 53814193 53814362 + 51 78 41 T C 53814231 872 39 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTCTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054470 52054471 52054471 upstr_intron -13 -0.2352941 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTCTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 77 182 1 0.9892883 0.9946441 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.09380165 -0.002500279 0.9970451 0.9489934 NA 0.04565068 NA FALSE NA 0.56 1.296 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 4/6 1 NA TTT T,C 8.237e-06 10:52054471 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant 1.545892 0.5002 0.07384 0.053691 0.8529392 0.918857 0.9997437 TRUE 8.17768e-06 ENSE00001660611_011 ENSE00001660611 011 10 53814193 53814362 + 51 78 41 C T 53814245 874 53 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGATCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054484 52054485 52054485 exon 2 0.02564103 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGATCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 154 1542 0.9948093 1 0.9974047 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.08861099 0.008211456 0.9970451 0.9489934 NA 0.04841122 NA FALSE NA 1 7.351 . missense_variant&splice_region_variant MODERATE PRKG1 HGNC 9414 ENST00000373976 5/7 COSM3978609&COSM3978611&COSM3978610 1 tolerated(0.25) benign(0.33) NA ACC C,T 1.647e-05 10:52054485 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 missense_variant 3.895233 0.99543 0.99591 0.615465 0.9940416 0 0.9997437 TRUE 8.15461e-06 ENSE00001660611_012 ENSE00001660611 012 10 53814193 53814362 + 51 78 41 A G 53814251 875 59 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTGTGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054490 52054491 52054491 exon 8 0.1025641 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTGTGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 689 283 0.9051038 1 0.9525519 0.9983856 0.9957046 0.9061984 0.9917885 NA NA -0.001094567 0.008211456 0.9970451 0.9489934 NA 0.003558445 NA FALSE NA 1 8.794 . missense_variant MODERATE PRKG1 HGNC 9414 ENST00000373976 5/7 1 deleterious(0) probably_damaging(0.999) NA TAT A,G 8.237e-06 10:52054491 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 missense_variant 6.515025 0.99421 0.99717 0.615465 0.9980012 0 0.9997437 TRUE NA ENSE00001660611_013 ENSE00001660611 013 10 53814193 53814362 + 51 78 41 T C 53814258 876 66 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAACGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054497 52054498 52054498 exon 15 0.1923077 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAACGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 98 371 1 1 1 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.09380165 0.008211456 0.9970451 0.9489934 NA 0.05100655 NA FALSE NA 1 0.957 . synonymous_variant LOW PRKG1 HGNC 9414 ENST00000373976 5/7 1 NA ATG T,C 1.647e-05 10:52054498 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 synonymous_variant 0.438376 0.97974 0.90201 0.615465 0.663079 0 0.9997437 TRUE 1.62844e-05 ENSE00001660611_014 ENSE00001660611 014 10 53814193 53814362 + 51 78 41 T C 53814269 877 77 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATACTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054508 52054509 52054509 exon 26 0.3333333 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATACTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 16 2675 1 0.9990529 0.9995264 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.09380165 0.007264317 0.9970451 0.9489934 NA 0.05053298 NA FALSE NA 1 7.555 . missense_variant MODERATE PRKG1 HGNC 9414 ENST00000373976 5/7 1 deleterious(0) probably_damaging(0.996) NA ATT T,C 8.237e-06 10:52054509 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 missense_variant 5.643102 0.98951 0.98152 0.615465 0.9986494 0 0.9997437 TRUE 4.06822e-06 ENSE00001660611_016 ENSE00001660611 016 10 53814193 53814362 + 51 78 41 G A 53814280 879 88 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAAGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054519 52054520 52054520 exon 37 0.474359 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAAGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 146 167 1 1 1 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.09380165 0.008211456 0.9970451 0.9489934 NA 0.05100655 NA FALSE NA 1 9.292 . missense_variant MODERATE PRKG1 HGNC 9414 ENST00000373976 5/7 1 deleterious(0) probably_damaging(0.96) NA AGG G,A 8.237e-06 10:52054520 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 missense_variant 6.982464 0.99534 0.9918 0.615465 0.9988446 0 0.9997437 TRUE 8.13431e-06 ENSE00001660611_018 ENSE00001660611 018 10 53814193 53814362 + 51 78 41 A T 53814304 881 112 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTTTCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054543 52054544 52054544 exon -18 0.7820513 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTTTCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant 33 31 0.97066 0.9245858 0.9476229 30 123 1 0.9235442 0.9617721 0.9983856 0.9957046 0.9061984 0.9917885 -0.02772562 -0.07111878 0.09380165 -0.06824436 0.9970451 0.9489934 -0.0494222 0.01277864 0.06220084 FALSE FALSE 1 8.79 . missense_variant MODERATE PRKG1 HGNC 9414 ENST00000373976 5/7 1 deleterious(0) probably_damaging(0.999) NA TAT A,T 8.237e-06 10:52054544 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 missense_variant 6.682967 0.99511 0.9935 0.706298 0.987034 0 0.9997437 TRUE 4.0659e-06 ENSE00001660611_019 ENSE00001660611 019 10 53814193 53814362 + 51 78 41 C T 53814320 882 128 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAATGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 52054559 52054560 52054560 exon -2 0.9871795 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAATGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 19 195 0.8979983 0.9998046 0.9489015 0.9983856 0.9957046 0.9061984 0.9917885 NA NA -0.00820003 0.008016054 0.9970451 0.9489934 NA -9.198772e-05 NA FALSE NA 1 3.171 . missense_variant&splice_region_variant MODERATE PRKG1 HGNC 9414 ENST00000373976 5/7 rs376134488&COSM918850 1 deleterious(0.02) possibly_damaging(0.717) NA T:0 T:0.0001 ACG C,T 5.766e-05 10:52054560 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 missense_variant 4.073981 0.9758 0.86421 0.706298 0.9859946 0 0.9997437 TRUE 6.09989e-05 ENSE00001660611_021 ENSE00001660611 021 10 53814193 53814362 + 51 78 41 C G 53814343 884 151 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGAGAGTGATGCACTAGGGGAGC 52054432 52054602 52054582 52054583 52054583 downstr_intron 22 1.55 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGAGAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 75 202 1 1 1 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.09380165 0.008211456 0.9970451 0.9489934 NA 0.05100655 NA FALSE NA 0 -2.584 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 5/6 rs369203562 1 NA G:0 G:0.0001 ACA C,G 1.648e-05 10:52054583 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant -0.243291 0.08496 0.00199 0.053691 0.6337449 0.0448725 0.9997437 TRUE 8.141e-06 ENSE00001660611_022 ENSE00001660611 022 10 53814193 53814362 + 51 78 41 A G 53814348 885 156 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGGTGCACTAGGGGAGC 52054432 52054602 52054587 52054588 52054588 downstr_intron 27 1.675 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGGTGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant 19 27 0.9714828 1 0.9857414 647 71 1 0.9840792 0.9920396 0.9983856 0.9957046 0.9061984 0.9917885 -0.02690285 0.004295415 0.09380165 -0.007709392 0.9970451 0.9489934 -0.01130372 0.04304613 0.05434984 FALSE FALSE 0 -0.177 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 5/6 rs371360016 1 NA G:0.0005 G:0 GAT A,G 1.648e-05 10:52054588 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant 0.146192 0.21294 0.04544 0.053691 0.521915 0.078309 0.9997437 TRUE 4.07169e-06 ENSE00001660611_023 ENSE00001660611 023 10 53814193 53814362 + 51 78 41 C T 53814351 886 159 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGTACTAGGGGAGC 52054432 52054602 52054590 52054591 52054591 downstr_intron 30 1.75 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGTACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant NA NA NA NA NA 19 143 1 0.996185 0.9980925 0.9983856 0.9957046 0.9061984 0.9917885 NA NA 0.09380165 0.004396413 0.9970451 0.9489934 NA 0.04909903 NA FALSE NA 0 -2.499 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 5/6 rs536066003 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCA C,T 4.119e-05 10:52054591 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant -0.33724 0.07192 0.00948 0.053691 0.3727067 0.0448725 0.9997437 TRUE 4.07408e-05 ENSE00001660611_024 ENSE00001660611 024 10 53814193 53814362 + 51 78 41 A C 53814352 887 160 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCCCTAGGGGAGC 52054432 52054602 52054591 52054592 52054592 downstr_intron 31 1.775 TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCCCTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC mutant 42 62 0.9825245 0.9682612 0.9753928 341 278 0.9995163 0.9990359 0.9992761 0.9983856 0.9957046 0.9061984 0.9917885 -0.01586114 -0.0274434 0.09331791 0.007247397 0.9970451 0.9489934 -0.02165227 0.05028265 0.07193493 FALSE FALSE 0 -1.865 . intron_variant MODIFIER PRKG1 HGNC 9414 ENST00000373976 5/6 rs374704502 1 NA C:0.0002 C:0 CAC A,C 3.295e-05 10:52054592 PRKG1 HGNC Symbol protein_coding 1307459 ENSG00000185532 ENSE00003487488 intron_variant -0.061781 0.17782 0.01804 0.053691 0.390899 0.0448725 0.9997437 TRUE 5.70395e-05 ENSE00001660611_BRK ENSE00001660611 BRK 10 53814193 53814362 + 51 78 41 A,G; T,T NA NA NA TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCTTACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGCCAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC 52054432 52054602 NA NA NA NA NA NA TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCTTACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGCCAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC TGGTAACTTACTGCTTGCTTAATTTTTTTTCTTATTGTTTCTACTTTTCAGACCCACTATGAAAATGGAGAATATATTATCAGGCAAGGTGCAAGAGGGGACACCTTCTTTATCATCAGCAAAGGAACGGTAAGCTTTGGTGGCACAAGACAGTGATGCACTAGGGGAGC control 144 29 0 0 0 61 34 0 0 0 0.9983856 0.9957046 0.9061984 0.9917885 -0.9983856 -0.9957046 -0.9061984 -0.9917885 0.9970451 0.9489934 -0.9970451 -0.9489934 0.04805167 TRUE TRUE NA NA NA NA NA PRKG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKG1 NA NA NA ENSG00000185532 ENSE00003487488 NA NA NA NA NA NA NA 0.9997437 TRUE NA ENSE00001661147_000 ENSE00001661147 000 3 45764314 45764483 + 47 87 36 NA NA NA NA NA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA 45722821 45722991 NA NA NA NA NA NA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA natural 27 11 0.9996889 0.9903037 0.9949963 3879 5099 0.9557462 0.9588026 0.9572744 0.9996889 0.9903037 0.9557462 0.9588026 0 0 0 0 0.9949963 0.9572744 0 0 0 FALSE FALSE NA NA NA NA NA SACM1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SACM1L NA NA NA ENSG00000211456 ENSE00003540813 NA NA NA NA NA NA NA 0.7219017 FALSE NA ENSE00001661147_001 ENSE00001661147 001 3 45764314 45764483 + 47 87 36 T G 45764325 764 12 AACAAGTATGTGTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA 45722821 45722991 45722832 45722833 45722833 upstr_intron -36 -0.7446809 AACAAGTATGTGTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA mutant NA NA NA NA NA 117 200 1 1 1 0.9996889 0.9903037 0.9557462 0.9588026 NA NA 0.04425382 0.04119737 0.9949963 0.9572744 NA 0.04272559 NA FALSE NA 0 -1.252 . intron_variant&NMD_transcript_variant MODIFIER SACM1L HGNC 17059 ENST00000441228 8/18 1 NA TTT T,G 1.648e-05 3:45722833 SACM1L HGNC Symbol protein_coding 56368 ENSG00000211456 ENSE00003540813 intron_variant 0.184739 0.15616 0.00613 0.160075 0.6731975 0.157936 0.7219017 FALSE 2.11015e-05 ENSE00001661147_004 ENSE00001661147 004 3 45764314 45764483 + 47 87 36 T C 45764353 767 40 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTCCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA 45722821 45722991 45722860 45722861 45722861 upstr_intron -8 -0.1489362 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTCCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA mutant NA NA NA NA NA 252 73 0.9998366 0.9800562 0.9899464 0.9996889 0.9903037 0.9557462 0.9588026 NA NA 0.0440904 0.02125354 0.9949963 0.9572744 NA 0.03267197 NA FALSE NA 0.996 1.652 . splice_region_variant&intron_variant&NMD_transcript_variant LOW SACM1L HGNC 17059 ENST00000441228 8/18 1 NA TTC T,C 8.236e-06 3:45722861 SACM1L HGNC Symbol protein_coding 56368 ENSG00000211456 ENSE00003540813 splice_region_variant 0.8109 0.80612 0.88722 0.359288 0.7076851 0.354755 0.7219017 FALSE NA ENSE00001661147_006 ENSE00001661147 006 3 45764314 45764483 + 47 87 36 T C 45764358 769 45 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTCAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA 45722821 45722991 45722865 45722866 45722866 upstr_intron -3 -0.04255319 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTCAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA mutant NA NA NA NA NA 121 667 0.9996594 1 0.9998297 0.9996889 0.9903037 0.9557462 0.9588026 NA NA 0.04391321 0.04119737 0.9949963 0.9572744 NA 0.04255529 NA FALSE NA 1 1.252 . splice_region_variant&intron_variant&NMD_transcript_variant LOW SACM1L HGNC 17059 ENST00000441228 8/18 rs371851070 1 NA C:0.0002 C:0 TTA T,C 1.647e-05 3:45722866 SACM1L HGNC Symbol protein_coding 56368 ENSG00000211456 ENSE00003540813 splice_region_variant 1.577987 0.97007 0.53684 0.359288 0.854988 0.51981 0.7219017 FALSE 4.08057e-06 ENSE00001661147_009 ENSE00001661147 009 3 45764314 45764483 + 47 87 36 A G 45764417 772 104 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCGCTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA 45722821 45722991 45722924 45722925 45722925 exon -31 0.6551724 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCGCTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA mutant NA NA NA NA NA 331 104 0.9998756 1 0.9999378 0.9996889 0.9903037 0.9557462 0.9588026 NA NA 0.04412942 0.04119737 0.9949963 0.9572744 NA 0.0426634 NA FALSE NA 0.104 0.371 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SACM1L HGNC 17059 ENST00000441228 9/19 1 NA CAC A,G 8.236e-06 3:45722925 SACM1L HGNC Symbol protein_coding 56368 ENSG00000211456 ENSE00003540813 synonymous_variant -0.032877 0.24327 0.12995 0.719381 0.5472263 0 0.7219017 FALSE 4.06841e-06 ENSE00001661147_011 ENSE00001661147 011 3 45764314 45764483 + 47 87 36 T A 45764437 774 124 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGAAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA 45722821 45722991 45722944 45722945 45722945 exon -11 0.8850575 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGAAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA mutant NA NA NA NA NA 89 230 1 0.9998344 0.9999172 0.9996889 0.9903037 0.9557462 0.9588026 NA NA 0.04425382 0.04103173 0.9949963 0.9572744 NA 0.04264278 NA FALSE NA 1 1.684 NA NA NA SACM1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:45722945 SACM1L HGNC Symbol protein_coding 56368 ENSG00000211456 ENSE00003540813 missense_variant 1.064622 0.97546 0.92312 0.706548 0.4630464 0 0.7219017 FALSE 4.07295e-06 ENSE00001661147_016 ENSE00001661147 016 3 45764314 45764483 + 47 87 36 T C 45764469 779 156 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTCTTGTTGGTTAAAAA 45722821 45722991 45722976 45722977 45722977 downstr_intron 22 1.628571 AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTCTTGTTGGTTAAAAA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA mutant NA NA NA NA NA 216 114 0.9998093 1 0.9999047 0.9996889 0.9903037 0.9557462 0.9588026 NA NA 0.04406314 0.04119737 0.9949963 0.9572744 NA 0.04263025 NA FALSE NA 0 -0.075 . intron_variant&NMD_transcript_variant MODIFIER SACM1L HGNC 17059 ENST00000441228 9/18 1 NA TTT T,C 1.647e-05 3:45722977 SACM1L HGNC Symbol protein_coding 56368 ENSG00000211456 ENSE00003540813 intron_variant -0.010497 0.17714 0.12024 0.062308 0.480451 0.0977633 0.7219017 FALSE 1.23722e-05 ENSE00001661147_BRK ENSE00001661147 BRK 3 45764314 45764483 + 47 87 36 A,G; T,T NA NA NA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTTTACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACCCGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA 45722821 45722991 NA NA NA NA NA NA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTTTACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACCCGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA AACAAGTATGTTTGTGTTTCTTTTCACATTTCTCTCTTTTCTTTTAGACTCGAGGATCAATACCTGTTTTCTGGTCCCAAAGACCAAACCTCAAGTACAAACCACTGCCACAGATCAGCAAAGTAGCAAATCACGTGTGTATCTTGCATGCCTTTTTTGTTGGTTAAAAA control NA NA NA NA NA 3430 853 0.005570365 0.0003750572 0.002972711 0.9996889 0.9903037 0.9557462 0.9588026 NA NA -0.9501758 -0.9584276 0.9949963 0.9572744 NA -0.9543017 NA TRUE NA NA NA NA NA NA SACM1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SACM1L NA NA NA ENSG00000211456 ENSE00003540813 NA NA NA NA NA NA NA 0.7219017 FALSE NA ENSE00001662387_000 ENSE00001662387 000 11 63666462 63666631 + 62 57 51 NA NA NA NA NA CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCTGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC 63898989 63899159 NA NA NA NA NA NA CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCTGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCTGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC natural 68 22 0.9288963 0.9994961 0.9641962 617 99 0.9201942 0.890094 0.9051441 0.9288963 0.9994961 0.9201942 0.890094 0 0 0 0 0.9641962 0.9051441 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MARK2 NA NA NA ENSG00000072518 ENSE00002495001 NA NA NA NA NA NA NA 0.9999009 TRUE NA ENSE00001662387_003 ENSE00001662387 003 11 63666462 63666631 + 62 57 51 C A 63666492 1576 31 CTGTCAGCCCCTGTGGCCCACCCTCAGGCAACCCTGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC 63898989 63899159 63899019 63899020 63899020 upstr_intron -32 -0.5 CTGTCAGCCCCTGTGGCCCACCCTCAGGCAACCCTGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCTGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC mutant NA NA NA NA NA 124 71 1 0.9994622 0.9997311 0.9288963 0.9994961 0.9201942 0.890094 NA NA 0.07980582 0.1093682 0.9641962 0.9051441 NA 0.09458699 NA FALSE NA 0 -0.377 NA NA NA MARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:63899020 MARK2 HGNC Symbol protein_coding 72091 ENSG00000072518 ENSE00002495001 intron_variant 0.49788 0.33476 0.19483 0.115753 0.6923612 0.0968874 0.9999009 TRUE 4.06537e-06 ENSE00001662387_004 ENSE00001662387 004 11 63666462 63666631 + 62 57 51 T C 63666496 1577 35 CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCCGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC 63898989 63899159 63899023 63899024 63899024 upstr_intron -28 -0.4354839 CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCCGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCTGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC mutant NA NA NA NA NA 58 298 1 1 1 0.9288963 0.9994961 0.9201942 0.890094 NA NA 0.07980582 0.109906 0.9641962 0.9051441 NA 0.0948559 NA FALSE NA 0 -0.401 . intron_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 6/17 1 NA CTG T,C 8.236e-06 11:63899024 MARK2 HGNC Symbol protein_coding 72091 ENSG00000072518 ENSE00002495001 intron_variant 0.230775 0.19821 0.01922 0.115753 0.6863919 0.0977633 0.9999009 TRUE 4.06421e-06 ENSE00001662387_006 ENSE00001662387 006 11 63666462 63666631 + 62 57 51 C G 63666505 1579 44 CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCTGGGTTAACGCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC 63898989 63899159 63899032 63899033 63899033 upstr_intron -19 -0.2903226 CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCTGGGTTAACGCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC CTGTCAGCCCCTGTGGCCCACCCTCAGGCACCCCTGGGTTAACCCTTCTTCCTTCCTTTCAGATAGTGTCTGCTGTGCAGTACTGTCACCAGAAGTTTATTGTCCATAGAGACTTAAAGGTAAGGCATGCACTTCTCCTTGTGCCTTTGAGTGGGAGCCAGGTTGTTGCC mutant NA NA NA NA NA 41 48 1 1 1 0.9288963 0.9994961 0.9201942 0.890094 NA NA 0.07980582 0.109906 0.9641962 0.9051441 NA 0.0948559 NA FALSE NA 0 0.91 . intron_variant MODIFIER MARK2 HGNC 3332 ENST00000509502 6/17 1 NA CCC C,G 8.236e-06 11:63899033 MARK2 HGNC Symbol protein_coding 72091 ENSG00000072518 ENSE00002495001 intron_variant 0.661211 0.96261 0.88229 0.256867 0.6533217 0.353501 0.9999009 TRUE 4.06372e-06 ENSE00001662388_000 ENSE00001662388 000 14 81380630 81380799 - 36 87 47 NA NA NA NA NA GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 NA NA NA NA NA NA AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC natural 30 21 0.9509201 0.9908858 0.9709029 1848 912 0.9627314 0.997485 0.9801082 0.9509201 0.9908858 0.9627314 0.997485 0 0 0 0 0.9709029 0.9801082 0 0 0 FALSE FALSE NA NA NA NA NA CEP128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP128 NA NA NA ENSG00000100629 ENSE00003504666 NA NA NA NA NA NA NA 4.0919e-18 FALSE NA ENSE00001662388_002 ENSE00001662388 002 14 81380630 81380799 - 36 87 47 T C 81380655 1313 145 GGGTAGGAGAAAATGCAAACAAATGCAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914310 80914311 80914311 downstr_intron 11 1.314286 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTGCATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 2341 18 0.9987362 1 0.9993681 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03600483 0.00251497 0.9709029 0.9801082 NA 0.0192599 NA FALSE NA 0 -0.728 . intron_variant MODIFIER CEP128 HGNC 20359 ENST00000281129 3/23 rs370861560 1 NA C:0 C:0.0002 GTA T,C 3.295e-05 14:80914311 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 intron_variant 0.097921 0.15866 0.04093 0.074636 0.2802782 0.0544609 4.0919e-18 FALSE 4.48851e-05 ENSE00001662388_003 ENSE00001662388 003 14 81380630 81380799 - 36 87 47 A G 81380666 1314 134 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACGTGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914321 80914322 80914322 exon -1 1 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACACGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 734 233 0.9983256 1 0.9991628 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03559418 0.00251497 0.9709029 0.9801082 NA 0.01905457 NA FALSE NA 0 -3.047 . splice_region_variant&synonymous_variant LOW CEP128 HGNC 20359 ENST00000281129 3/24 1 NA CAT A,G 8.236e-06 14:80914322 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 splice_region_variant -0.53899 0.12813 0.0118 0.660377 0.5716261 0 4.0919e-18 FALSE 1.22392e-05 ENSE00001662388_005 ENSE00001662388 005 14 81380630 81380799 - 36 87 47 C T 81380675 1316 125 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATTGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914330 80914331 80914331 exon -10 0.8965517 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCAATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 32 141 1 0.9947012 0.9973506 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03726861 -0.002783786 0.9709029 0.9801082 NA 0.01724241 NA FALSE NA 0.708 -0.397 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:80914331 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 synonymous_variant 2.306215 0.94698 0.18001 0.660377 0.8477926 0 4.0919e-18 FALSE 6.51487e-05 ENSE00001662388_006 ENSE00001662388 006 14 81380630 81380799 - 36 87 47 C A 81380675 1317 125 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATAGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914330 80914331 80914331 exon -10 0.8965517 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCTATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 2287 966 0.9456266 0.9998362 0.9727314 0.9509201 0.9908858 0.9627314 0.997485 NA NA -0.0171048 0.002351216 0.9709029 0.9801082 NA -0.007376794 NA FALSE NA 0.708 -0.397 NA NA NA CEP128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP128 NA NA NA ENSG00000100629 ENSE00003504666 synonymous_variant 3.034692 0.93461 0.08405 0.660377 0.8155846 0 4.0919e-18 FALSE 4.07179e-06 ENSE00001662388_007 ENSE00001662388 007 14 81380630 81380799 - 36 87 47 G A 81380676 1318 124 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCACACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914331 80914332 80914332 exon -11 0.8850575 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGTGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 20 33 0.997924 1 0.998962 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03519258 0.00251497 0.9709029 0.9801082 NA 0.01885377 NA FALSE NA 0.996 6.23 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000281129 3/24 rs375520776 1 deleterious(0) possibly_damaging(0.743) NA A:0 A:0.0001 CGC G,A 8.236e-06 14:80914332 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 missense_variant 6.481676 0.97351 0.93506 0.660377 0.9990568 0 4.0919e-18 FALSE 8.15641e-06 ENSE00001662388_009 ENSE00001662388 009 14 81380630 81380799 - 36 87 47 T C 81380691 1320 109 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCACTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914346 80914347 80914347 exon -26 0.7126437 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAGTGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 16 27 1 1 1 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03726861 0.00251497 0.9709029 0.9801082 NA 0.01989179 NA FALSE NA 0.992 1.387 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000281129 3/24 rs538356707 1 tolerated(0.27) benign(0.009) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATT T,C 8.236e-06 14:80914347 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 missense_variant 0.59355 0.96306 0.71771 0.660377 0.9788012 0 4.0919e-18 FALSE 1.21885e-05 ENSE00001662388_010 ENSE00001662388 010 14 81380630 81380799 - 36 87 47 C A 81380703 1321 97 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTAGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914358 80914359 80914359 exon -38 0.5747126 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCTAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 49 194 0.9308554 1 0.9654277 0.9509201 0.9908858 0.9627314 0.997485 NA NA -0.03187604 0.00251497 0.9709029 0.9801082 NA -0.01468053 NA FALSE NA 1 2.503 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:80914359 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 missense_variant 7.515337 0.98352 0.9057 0.660377 0.9973274 0 4.0919e-18 FALSE 8.1246e-06 ENSE00001662388_011 ENSE00001662388 011 14 81380630 81380799 - 36 87 47 C T 81380703 1322 97 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTTGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914358 80914359 80914359 exon -38 0.5747126 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCAAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 208 547 0.9965872 0.9816388 0.989113 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03385577 -0.01584627 0.9709029 0.9801082 NA 0.009004748 NA FALSE NA 1 2.503 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP128 NA NA NA ENSG00000100629 ENSE00003504666 missense_variant 5.720858 0.98288 0.87273 0.660377 0.9988574 0 4.0919e-18 FALSE 4.0623e-06 ENSE00001662388_012 ENSE00001662388 012 14 81380630 81380799 - 36 87 47 G T 81380704 1323 96 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCTGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914359 80914360 80914360 exon -39 0.5632184 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACAGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 208 281 0.914841 1 0.9574205 0.9509201 0.9908858 0.9627314 0.997485 NA NA -0.04789038 0.00251497 0.9709029 0.9801082 NA -0.02268771 NA FALSE NA 1 3.089 NA NA NA CEP128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:80914360 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 synonymous_variant 1.627966 0.96385 0.69202 0.660377 0.754834 0 4.0919e-18 FALSE 8.12572e-05 ENSE00001662388_014 ENSE00001662388 014 14 81380630 81380799 - 36 87 47 C T 81380709 1325 91 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATTGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914364 80914365 80914365 exon -44 0.5057471 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACAATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 1198 3942 1 0.999054 0.999527 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03726861 0.001568985 0.9709029 0.9801082 NA 0.0194188 NA FALSE NA 0.874 -0.007 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000281129 3/24 rs201719117&COSM3498368&COSM3498369&COSM3498370 1 tolerated(1) benign(0.004) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0001 TCG C,T 4.118e-05 14:80914365 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 missense_variant 0.511188 0.38318 0.06298 0.660377 0.7925389 0 4.0919e-18 FALSE 5.68861e-05 ENSE00001662388_016 ENSE00001662388 016 14 81380630 81380799 - 36 87 47 G T 81380710 1327 90 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCTTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914365 80914366 80914366 exon 43 0.4942529 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGAAGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 466 100 0.9906614 1 0.9953307 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.02793001 0.00251497 0.9709029 0.9801082 NA 0.01522249 NA FALSE NA 1 4.484 NA NA NA CEP128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:80914366 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 synonymous_variant 1.499944 0.96599 0.89356 0.660377 0.787965 0 4.0919e-18 FALSE 4.06322e-06 ENSE00001662388_017 ENSE00001662388 017 14 81380630 81380799 - 36 87 47 A G 81380718 1328 82 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCGTCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914373 80914374 80914374 exon 35 0.4022989 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGACGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 388 155 0.9990415 1 0.9995207 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03631009 0.00251497 0.9709029 0.9801082 NA 0.01941253 NA FALSE NA 1 5.898 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000281129 3/24 1 deleterious(0) possibly_damaging(0.72) NA CAT A,G 8.236e-06 14:80914374 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 start_lost 5.358635 0.98046 0.94762 0.660377 0.9075632 0 4.0919e-18 FALSE 4.06286e-06 ENSE00001662388_019 ENSE00001662388 019 14 81380630 81380799 - 36 87 47 C T 81380733 1330 67 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTTGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914388 80914389 80914389 exon 20 0.2298851 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCAACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 116 1155 1 0.9979982 0.9989991 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03726861 0.0005131612 0.9709029 0.9801082 NA 0.01889088 NA FALSE NA 1 0.588 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000281129 3/24 1 tolerated(0.08) benign(0.1) NA TCG C,T 8.236e-06 14:80914389 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 missense_variant 4.346385 0.9733 0.72923 0.660377 0.9985017 0 4.0919e-18 FALSE 1.21894e-05 ENSE00001662388_021 ENSE00001662388 021 14 81380630 81380799 - 36 87 47 A G 81380736 1332 64 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCGGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914391 80914392 80914392 exon 17 0.1954023 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCCGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 56 89 0.9992628 1 0.9996314 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.0365314 0.00251497 0.9709029 0.9801082 NA 0.01952318 NA FALSE NA 1 5.898 rs116679913 missense_variant MODERATE CEP128 HGNC 20359 ENST00000281129 3/24 rs116679913 1 deleterious(0) probably_damaging(1) G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 CAG A,G 1.647e-05 14:80914392 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 missense_variant 6.473536 0.98046 0.94762 0.638212 0.9989402 0 4.0919e-18 FALSE 8.12605e-06 ENSE00001662388_022 ENSE00001662388 022 14 81380630 81380799 - 36 87 47 C T 81380742 1333 58 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCTGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914397 80914398 80914398 exon 11 0.1264368 AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCAGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 131 128 1 1 1 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03726861 0.00251497 0.9709029 0.9801082 NA 0.01989179 NA FALSE NA 1 4.933 . missense_variant MODERATE CEP128 HGNC 20359 ENST00000281129 3/24 1 tolerated(0.05) possibly_damaging(0.887) NA CCG C,T 8.236e-06 14:80914398 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 missense_variant 7.396015 0.98288 0.92264 0.660377 0.999385 0 4.0919e-18 FALSE 2.84426e-05 ENSE00001662388_027 ENSE00001662388 027 14 81380630 81380799 - 36 87 47 T G 81380767 1338 33 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAAGGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914422 80914423 80914423 upstr_intron -15 -0.2978723 AAAAAAAGTATTTGGAATAATTAATTCAGTCCCTTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 254 28 1 1 1 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03726861 0.00251497 0.9709029 0.9801082 NA 0.01989179 NA FALSE NA 0.001 -0.18 . intron_variant MODIFIER CEP128 HGNC 20359 ENST00000281129 2/23 1 NA ATG T,G 8.236e-06 14:80914423 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 intron_variant 0.044678 0.17627 0.0935 0.053691 0.3505068 0.149847 4.0919e-18 FALSE 4.06702e-06 ENSE00001662388_028 ENSE00001662388 028 14 81380630 81380799 - 36 87 47 G T 81380768 1339 32 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATTGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 80914423 80914424 80914424 upstr_intron -16 -0.3191489 AAAAAAAGTATTTGGAATAATTAATTCAGTCAATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 249 573 0.9912021 1 0.995601 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.02847067 0.00251497 0.9709029 0.9801082 NA 0.01549282 NA FALSE NA 0 -0.175 . intron_variant MODIFIER CEP128 HGNC 20359 ENST00000281129 2/23 1 NA TGG G,T 8.236e-06 14:80914424 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 intron_variant -0.925429 0.14977 0.07941 0.053691 0.4314046 0.149847 4.0919e-18 FALSE 4.07153e-06 ENSE00001662388_029 ENSE00001662388 029 14 81380630 81380799 - 36 87 47 T C 81380780 1340 20 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAACTATTCCAAATACTTTTTTT 80914285 80914455 80914435 80914436 80914436 upstr_intron -28 -0.5744681 AAAAAAAGTATTTGGAATAGTTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 228 897 1 0.9988778 0.9994389 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03726861 0.001392765 0.9709029 0.9801082 NA 0.01933069 NA FALSE NA 0 -0.084 . intron_variant MODIFIER CEP128 HGNC 20359 ENST00000281129 2/23 1 NA ATT T,C 8.236e-06 14:80914436 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 intron_variant 0.190909 0.21148 0.07639 0.053691 0.5089203 0.14875 4.0919e-18 FALSE 8.17494e-06 ENSE00001662388_030 ENSE00001662388 030 14 81380630 81380799 - 36 87 47 T C 81380781 1341 19 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATCATTCCAAATACTTTTTTT 80914285 80914455 80914436 80914437 80914437 upstr_intron -29 -0.5957447 AAAAAAAGTATTTGGAATGATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 315 262 0.9998693 1 0.9999346 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03713789 0.00251497 0.9709029 0.9801082 NA 0.01982643 NA FALSE NA 0.004 1.361 rs185851351 intron_variant MODIFIER CEP128 HGNC 20359 ENST00000281129 2/23 rs185851351 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TTA T,C 8.236e-06 14:80914437 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 intron_variant 0.235702 0.21467 0.10164 0.053691 0.4989562 0.14875 4.0919e-18 FALSE 4.08901e-06 ENSE00001662388_031 ENSE00001662388 031 14 81380630 81380799 - 36 87 47 T C 81380783 1342 17 GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCACATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCCTTGAGAAAGAAAATGGACTGAATTAATTACTCCAAATACTTTTTTT 80914285 80914455 80914438 80914439 80914439 upstr_intron -31 -0.6382979 AAAAAAAGTATTTGGAGTAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC mutant NA NA NA NA NA 326 169 1 1 1 0.9509201 0.9908858 0.9627314 0.997485 NA NA 0.03726861 0.00251497 0.9709029 0.9801082 NA 0.01989179 NA FALSE NA 0 -0.804 . intron_variant MODIFIER CEP128 HGNC 20359 ENST00000281129 2/23 1 NA ATT T,C 8.236e-06 14:80914439 CEP128 HGNC Symbol protein_coding 482534 ENSG00000100629 ENSE00003504666 intron_variant -0.020172 0.16935 0.04345 0.053691 0.4006558 0.149847 4.0919e-18 FALSE 4.09625e-06 ENSE00001662388_BRK ENSE00001662388 BRK 14 81380630 81380799 - 36 87 47 A,G; T,T NA NA NA GGGTAGGAGAAAATGCAAACAAATGTAGTTTCTCGGATGTTCTATCGCACCCGCCTGTCCATTACTGTATTCTCGGTATCGTCCAAGCATCTGGTCCACTTGTCGCAGGTTCCGACTGGTATCAATGAGAAAGAAAATGGACTGAATTAATTATTCCAAATACTTTTTTT 80914285 80914455 NA NA NA NA NA NA AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCATTGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATCCGAGAAACTACATTTGTTTGCATTTTCTCCTACCC AAAAAAAGTATTTGGAATAATTAATTCAGTCCATTTTCTTTCTCAAGGATACCAGTCGGAACCTGCGACAAGTGGACCAGATGCTTGGACGATACCGAGAATACAGTAATGGACAGGCGGGTGCGATAGAACATGTGAGAAACTACATTTGTTTGCATTTTCTCCTACCC control 36 51 0.85 0.85 0.85 NA NA NA NA NA 0.9509201 0.9908858 0.9627314 0.997485 -0.1009201 -0.1408858 NA NA 0.9709029 0.9801082 -0.1209029 NA NA NA FALSE NA NA NA NA NA CEP128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP128 NA NA NA ENSG00000100629 ENSE00003504666 NA NA NA NA NA NA NA 4.0919e-18 FALSE NA ENSE00001662971_000 ENSE00001662971 000 6 17777467 17777636 - 41 78 51 NA NA NA NA NA ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 NA NA NA NA NA NA TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT natural NA NA NA NA NA 583 387 0.9141078 0.9917355 0.9529217 NA NA 0.9141078 0.9917355 NA NA 0 0 NA 0.9529217 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF13A NA NA NA ENSG00000137177 ENSE00001662971 NA NA NA NA NA NA NA 0.9999585 TRUE NA ENSE00001662971_001 ENSE00001662971 001 6 17777467 17777636 - 41 78 51 T C 17777477 175 160 ACATGTCACACAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777245 17777246 17777246 downstr_intron 31 1.775 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTGTGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 22 24 1 1 1 NA NA 0.9141078 0.9917355 NA NA 0.08589219 0.008264454 NA 0.9529217 NA 0.04707832 NA FALSE NA 0 -2.556 NA NA NA KIF13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:17777246 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 intron_variant -0.650037 0.03356 0.0171 0.088506 0.265946 0.0455939 0.9999585 TRUE 1.77974e-05 ENSE00001662971_003 ENSE00001662971 003 6 17777467 17777636 - 41 78 51 T C 17777487 177 150 ACATGTCACATAGGAGCAGACCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777255 17777256 17777256 downstr_intron 21 1.525 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGGTCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 15 471 1 0.9989913 0.9994957 NA NA 0.9141078 0.9917355 NA NA 0.08589219 0.007255774 NA 0.9529217 NA 0.04657398 NA FALSE NA 0 -3.56 . intron_variant MODIFIER KIF13A HGNC 14566 ENST00000378814 33/37 rs200307783 1 C:0.0008 C:0 C:0.0014 NA C:0 C:0.002 C:0.001 C:0.001 C:0.0072 ATC T,C 0.004425 6:17777256 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 intron_variant -0.243811 0.09654 0.00842 0.088506 0.2402233 0.0455939 0.9999585 TRUE 0.00482498 ENSE00001662971_004 ENSE00001662971 004 6 17777467 17777636 - 41 78 51 C G 17777494 178 143 ACATGTCACATAGGAGCAGATCCTTGGGAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777262 17777263 17777263 downstr_intron 14 1.35 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTCCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 144 113 1 0.9521124 0.9760562 NA NA 0.9141078 0.9917355 NA NA 0.08589219 -0.03962319 NA 0.9529217 NA 0.0231345 NA FALSE NA 0 -0.096 . intron_variant MODIFIER KIF13A HGNC 14566 ENST00000378814 33/37 1 NA GCA C,G 5.789e-05 6:17777263 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 intron_variant 0.15879 0.21233 0.06412 0.088506 0.4371051 0.119696 0.9999585 TRUE 8.01431e-05 ENSE00001662971_006 ENSE00001662971 006 6 17777467 17777636 - 41 78 51 A G 17777515 180 122 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAGCATTTGGTGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777283 17777284 17777284 exon -8 0.9102564 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGCTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 24 48 1 1 1 NA NA 0.9141078 0.9917355 NA NA 0.08589219 0.008264454 NA 0.9529217 NA 0.04707832 NA FALSE NA 1 8.911 . missense_variant MODERATE KIF13A HGNC 14566 ENST00000378814 33/38 rs368584415 1 deleterious(0) benign(0.201) NA G:0 G:0.0001 AAC A,G 8.271e-06 6:17777284 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 4.714441 0.99205 0.99494 0.732398 0.9985727 0 0.9999585 TRUE 4.10482e-06 ENSE00001662971_008 ENSE00001662971 008 6 17777467 17777636 - 41 78 51 T C 17777523 182 114 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGCGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777291 17777292 17777292 exon -16 0.8076923 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACGCCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 13 133 1 0.9927974 0.9963987 NA NA 0.9141078 0.9917355 NA NA 0.08589219 0.001061806 NA 0.9529217 NA 0.043477 NA FALSE NA 0.014 -1.08 . synonymous_variant LOW KIF13A HGNC 14566 ENST00000378814 33/38 1 NA GTG T,C 8.272e-06 6:17777292 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 synonymous_variant 0.600733 0.96128 0.2936 0.732398 0.7711939 0 0.9999585 TRUE 8.17314e-06 ENSE00001662971_009 ENSE00001662971 009 6 17777467 17777636 - 41 78 51 T A 17777525 183 112 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGAACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777293 17777294 17777294 exon -18 0.7820513 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTTCACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 23 288 1 0.9605252 0.9802626 NA NA 0.9141078 0.9917355 NA NA 0.08589219 -0.03121039 NA 0.9529217 NA 0.0273409 NA FALSE NA 1 5.833 . missense_variant MODERATE KIF13A HGNC 14566 ENST00000378814 33/38 1 tolerated(1) possibly_damaging(0.722) NA GTA T,A 8.272e-06 6:17777294 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 3.756318 0.99202 0.98199 0.732398 0.989231 0 0.9999585 TRUE 4.08237e-06 ENSE00001662971_010 ENSE00001662971 010 6 17777467 17777636 - 41 78 51 C T 17777527 184 110 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTATTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777295 17777296 17777296 exon -20 0.7564103 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAATACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 92 342 0.9986503 1 0.9993251 NA NA 0.9141078 0.9917355 NA NA 0.08454244 0.008264454 NA 0.9529217 NA 0.04640345 NA FALSE NA 1 7.445 . missense_variant MODERATE KIF13A HGNC 14566 ENST00000378814 33/38 1 deleterious(0) possibly_damaging(0.575) NA ACT C,T 2.482e-05 6:17777296 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 7.328063 0.99395 0.99209 0.732398 0.9973134 0 0.9999585 TRUE 1.22433e-05 ENSE00001662971_011 ENSE00001662971 011 6 17777467 17777636 - 41 78 51 C T 17777539 185 98 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCTGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777307 17777308 17777308 exon -32 0.6025641 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCAGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 20 23 0.9958105 1 0.9979053 NA NA 0.9141078 0.9917355 NA NA 0.08170273 0.008264454 NA 0.9529217 NA 0.04498359 NA FALSE NA 1 4.63 . missense_variant MODERATE KIF13A HGNC 14566 ENST00000378814 33/38 1 deleterious(0.03) benign(0.082) NA CCG C,T 0.0004716 6:17777308 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 5.06895 0.98969 0.97129 0.732398 0.99935 0 0.9999585 TRUE 0.000521678 ENSE00001662971_013 ENSE00001662971 013 6 17777467 17777636 - 41 78 51 T C 17777543 187 94 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAACGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777311 17777312 17777312 exon -36 0.5512821 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACGTTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 56 25 0.9962666 1 0.9981333 NA NA 0.9141078 0.9917355 NA NA 0.08215881 0.008264454 NA 0.9529217 NA 0.04521163 NA FALSE NA 1 1.983 . missense_variant MODERATE KIF13A HGNC 14566 ENST00000378814 33/38 1 tolerated(0.49) benign(0.062) NA ATG T,C 8.273e-06 6:17777312 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 0.982761 0.96633 0.90607 0.732398 0.942829 0 0.9999585 TRUE 8.14365e-06 ENSE00001662971_014 ENSE00001662971 014 6 17777467 17777636 - 41 78 51 C T 17777548 188 89 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCTGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777316 17777317 17777317 exon 38 0.4871795 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCAGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 15 116 1 1 1 NA NA 0.9141078 0.9917355 NA NA 0.08589219 0.008264454 NA 0.9529217 NA 0.04707832 NA FALSE NA 1 3.585 . missense_variant MODERATE KIF13A HGNC 14566 ENST00000378814 33/38 1 tolerated(0.18) benign(0.045) NA CCG C,T 4.137e-05 6:17777317 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 4.9283 0.98513 0.9654 0.732398 0.9994686 0 0.9999585 TRUE 3.25823e-05 ENSE00001662971_015 ENSE00001662971 015 6 17777467 17777636 - 41 78 51 G A 17777549 189 88 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCAGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777317 17777318 17777318 exon 37 0.474359 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCTGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 37 218 0.9660016 0.9978173 0.9819095 NA NA 0.9141078 0.9917355 NA NA 0.05189378 0.006081771 NA 0.9529217 NA 0.02898778 NA FALSE NA 0.999 2.922 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:17777318 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 6.734122 0.52011 0.83635 0.732398 0.998984 0 0.9999585 TRUE 4.88802e-05 ENSE00001662971_016 ENSE00001662971 016 6 17777467 17777636 - 41 78 51 G C 17777549 190 88 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCCGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777317 17777318 17777318 exon 37 0.474359 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCGGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 20 94 1 0.9983639 0.999182 NA NA 0.9141078 0.9917355 NA NA 0.08589219 0.006628392 NA 0.9529217 NA 0.04626029 NA FALSE NA 0.999 2.922 NA NA NA KIF13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF13A NA NA NA ENSG00000137177 ENSE00001662971 missense_variant 5.65119 0.52992 0.85502 0.732398 0.9978911 0 0.9999585 TRUE NA ENSE00001662971_018 ENSE00001662971 018 6 17777467 17777636 - 41 78 51 G C 17777566 192 71 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTCCTTCTTTGACTGTGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777334 17777335 17777335 exon 20 0.2564103 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGGACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 10 99 1 1 1 NA NA 0.9141078 0.9917355 NA NA 0.08589219 0.008264454 NA 0.9529217 NA 0.04707832 NA FALSE NA 1 9.422 . missense_variant MODERATE KIF13A HGNC 14566 ENST00000378814 33/38 1 tolerated(0.43) possibly_damaging(0.611) NA TGC G,C 8.275e-06 6:17777335 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 3.437653 0.99437 0.99615 0.732398 0.9968646 0 0.9999585 TRUE 4.0803e-06 ENSE00001662971_019 ENSE00001662971 019 6 17777467 17777636 - 41 78 51 T C 17777579 193 58 ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTACATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGCGACGGCCTGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 17777347 17777348 17777348 exon 7 0.08974359 TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCGCAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT mutant NA NA NA NA NA 99 24 0.939944 1 0.969972 NA NA 0.9141078 0.9917355 NA NA 0.0258362 0.008264454 NA 0.9529217 NA 0.01705033 NA FALSE NA 1 5.937 . missense_variant MODERATE KIF13A HGNC 14566 ENST00000378814 33/38 1 tolerated(1) benign(0.076) NA GTG T,C 1.655e-05 6:17777348 KIF13A HGNC Symbol protein_coding 228440 ENSG00000137177 ENSE00001662971 missense_variant 2.446321 0.99183 0.988 0.732398 0.4111383 0 0.9999585 TRUE 2.46318e-05 ENSE00001662971_BRK ENSE00001662971 BRK 6 17777467 17777636 - 41 78 51 A,G; T,T NA NA NA ACATGTCACATAGGAGCAGATCCTTGGCAGGATGCACTTGGATTATGAACATTTGGTGTACTGAGGCTCCTCCGAATGTGCCGGGCTTTGGTGGAAAGTGCTTCTTTGACTGTGACGGCAAGTAAACATAATAATTTGAAAATAACACTTTTTTTTTTTTTCCCCAGAGA 17777235 17777405 NA NA NA NA NA NA TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACTTGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATCCAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT TCTCTGGGGAAAAAAAAAAAAAGTGTTATTTTCAAATTATTATGTTTACAGGCCGTCACAGTCAAAGAAGCACTTTCCACCAAAGCCCGGCACATTCGGAGGAGCCTCAGTACACCAAATGTTCATAATGTAAGTGCATCCTGCCAAGGATCTGCTCCTATGTGACATGT control 57 29 0 0 0 NA NA NA NA NA NA NA 0.9141078 0.9917355 NA NA NA NA NA 0.9529217 NA NA NA NA NA NA NA NA NA NA KIF13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF13A NA NA NA ENSG00000137177 ENSE00001662971 NA NA NA NA NA NA NA 0.9999585 TRUE NA ENSE00001663400_000 ENSE00001663400 000 13 101290151 101290320 - 33 93 44 NA NA NA NA NA AGCCAAGCTCTCCCGTGGCTGATTGTCTTGCTTTGCTTTCTTAGGGTTTAAATGCGGTATTTGACATCTTGGTGATAGGCAAATTCAATGTTCTGGAAATTGTCCAGAAGGTACTACATAAGGACAAGTCATTAGAGGTGAGTCTGTACTTTTATCTCCAGCCCAGACAT 100637896 100638066 NA NA NA NA NA NA AGCCAAGCTCTCCCGTGGCTGATTGTCTTGCTTTGCTTTCTTAGGGTTTAAATGCGGTATTTGACATCTTGGTGATAGGCAAATTCAATGTTCTGGAAATTGTCCAGAAGGTACTACATAAGGACAAGTCATTAGAGGTGAGTCTGTACTTTTATCTCCAGCCCAGACAT AGCCAAGCTCTCCCGTGGCTGATTGTCTTGCTTTGCTTTCTTAGGGTTTAAATGCGGTATTTGACATCTTGGTGATAGGCAAATTCAATGTTCTGGAAATTGTCCAGAAGGTACTACATAAGGACAAGTCATTAGAGGTGAGTCTGTACTTTTATCTCCAGCCCAGACAT natural 1151 1613 0.8471374 0.8472465 0.8471919 4403 3753 0.7934456 0.7876713 0.7905584 0.8471374 0.8472465 0.7934456 0.7876713 0 0 0 0 0.8471919 0.7905584 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003603844 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001663400_BRK ENSE00001663400 BRK 13 101290151 101290320 - 33 93 44 A,G; T,T NA NA NA AGCCAAGCTCTCCCGTGGCTGATTGTCTTGCTTTGCTTTCTTTTGGTTTAAATGCGGTATTTGACATCTTGGTGATAGGCAAATTCAATGTTCTGGAAATTGTCCAGAAGGTACTACATAAGGACAAGTCATTAGAGCCGAGTCTGTACTTTTATCTCCAGCCCAGACAT 100637896 100638066 NA NA NA NA NA NA AGCCAAGCTCTCCCGTGGCTGATTGTCTTGCTTTGCTTTCTTTTGGTTTAAATGCGGTATTTGACATCTTGGTGATAGGCAAATTCAATGTTCTGGAAATTGTCCAGAAGGTACTACATAAGGACAAGTCATTAGAGCCGAGTCTGTACTTTTATCTCCAGCCCAGACAT AGCCAAGCTCTCCCGTGGCTGATTGTCTTGCTTTGCTTTCTTAGGGTTTAAATGCGGTATTTGACATCTTGGTGATAGGCAAATTCAATGTTCTGGAAATTGTCCAGAAGGTACTACATAAGGACAAGTCATTAGAGGTGAGTCTGTACTTTTATCTCCAGCCCAGACAT control 126 34 0 0 0 667 451 0.008694677 0 0.004347339 0.8471374 0.8472465 0.7934456 0.7876713 -0.8471374 -0.8472465 -0.7847509 -0.7876713 0.8471919 0.7905584 -0.8471919 -0.7862111 0.06098085 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003603844 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001664070_000 ENSE00001664070 000 11 17434174 17434343 - 39 81 50 NA NA NA NA NA TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 NA NA NA NA NA NA TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC natural 591 599 0.759681 0.7933924 0.7765367 567 1996 0.5865188 0.7342796 0.6603992 0.759681 0.7933924 0.5865188 0.7342796 0 0 0 0 0.7765367 0.6603992 0 0 0 FALSE FALSE NA NA NA NA NA ABCC8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC8 NA NA NA ENSG00000006071 ENSE00003466753 NA NA NA NA NA NA NA 3.938723e-15 FALSE NA ENSE00001664070_001 ENSE00001664070 001 11 17434174 17434343 - 39 81 50 G A 17434188 596 156 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCTTGGTCTCTGGCTGC 17412626 17412796 17412640 17412641 17412641 downstr_intron 25 1.657895 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCTTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant 11 50 0.85 0.85 0.85 683 114 0.796882 0.8 0.798441 0.759681 0.7933924 0.5865188 0.7342796 0.09031905 0.05660755 0.2103632 0.0657204 0.7765367 0.6603992 0.0734633 0.1380418 0.06457848 FALSE FALSE 0.605 1.733 rs180777979 intron_variant&NMD_transcript_variant MODIFIER ABCC8 HGNC 59 ENST00000527905 21/30 rs180777979 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGG G,A 2.472e-05 11:17412641 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 intron_variant 2.541194 0.94856 0.59705 0.053691 0.90941 0.925075 3.938723e-15 FALSE 2.19605e-05 ENSE00001664070_004 ENSE00001664070 004 11 17434174 17434343 - 39 81 50 A G 17434196 599 148 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCCTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412648 17412649 17412649 downstr_intron 17 1.447368 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCCTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 16 360 0.6791743 0.8076352 0.7434047 0.759681 0.7933924 0.5865188 0.7342796 NA NA 0.09265552 0.07335557 0.7765367 0.6603992 NA 0.08300554 NA FALSE NA 0 0.08 . intron_variant&NMD_transcript_variant MODIFIER ABCC8 HGNC 59 ENST00000527905 21/30 rs374812726 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 G:0 G:0.0001 AAG A,G 1.648e-05 11:17412649 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 intron_variant 1.785435 0.16875 0.0321 0.053691 0.7269524 0.164077 3.938723e-15 FALSE 8.51216e-06 ENSE00001664070_005 ENSE00001664070 005 11 17434174 17434343 - 39 81 50 C T 17434210 600 134 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTAAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412662 17412663 17412663 downstr_intron 3 1.078947 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTAAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 342 1469 0.9684307 0.9631427 0.9657867 0.759681 0.7933924 0.5865188 0.7342796 NA NA 0.3819119 0.2288631 0.7765367 0.6603992 NA 0.3053875 NA FALSE NA 1 1.185 . splice_region_variant&intron_variant&NMD_transcript_variant LOW ABCC8 HGNC 59 ENST00000527905 21/30 1 NA TCA C,T 4.118e-05 11:17412663 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 splice_region_variant 2.260217 0.98506 0.87493 0.055872 0.9463594 0.977885 3.938723e-15 FALSE 3.75915e-05 ENSE00001664070_006 ENSE00001664070 006 11 17434174 17434343 - 39 81 50 C T 17434212 601 132 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGATGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412664 17412665 17412665 downstr_intron 1 1.026316 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGATGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 235 469 0 0.0006825339 0.0003412669 0.759681 0.7933924 0.5865188 0.7342796 NA NA -0.5865188 -0.7335971 0.7765367 0.6603992 NA -0.6600579 NA TRUE NA 1 7.765 . splice_donor_variant&NMD_transcript_variant HIGH ABCC8 HGNC 59 ENST00000527905 21/30 1 NA ACC C,T 8.237e-06 11:17412665 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 splice_donor_variant 6.109129 0.99715 0.99121 0.070351 0.9953526 0.988805 3.938723e-15 FALSE 8.33083e-06 ENSE00001664070_008 ENSE00001664070 008 11 17434174 17434343 - 39 81 50 G A 17434225 603 119 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAATGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412677 17412678 17412678 exon -13 0.8518519 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAATGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 284 743 0.001349428 0.02204753 0.01169848 0.759681 0.7933924 0.5865188 0.7342796 NA NA -0.5851694 -0.7122321 0.7765367 0.6603992 NA -0.6487007 NA TRUE NA 0.003 -0.408 rs144200345 synonymous_variant&NMD_transcript_variant LOW ABCC8 HGNC 59 ENST00000527905 21/31 rs144200345 1 NA A:0 A:0.0001 CGT G,A 2.471e-05 11:17412678 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 synonymous_variant 0.956348 0.66129 0.06577 0.533608 0.6655762 0 3.938723e-15 FALSE 2.48486e-05 ENSE00001664070_009 ENSE00001664070 009 11 17434174 17434343 - 39 81 50 C T 17434230 604 114 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACACCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412682 17412683 17412683 exon -18 0.7901235 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACACCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant 47 37 0.9531706 0.85 0.9015853 883 406 0.8126993 0.6281991 0.7204492 0.759681 0.7933924 0.5865188 0.7342796 0.1934896 0.05660755 0.2261805 -0.1060805 0.7765367 0.6603992 0.1250486 0.06004999 0.0649986 FALSE FALSE 1 5.03 NA NA NA ABCC8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:17412683 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 missense_variant 2.546022 0.97438 0.21737 0.533608 0.4133323 0 3.938723e-15 FALSE 1.6561e-05 ENSE00001664070_011 ENSE00001664070 011 11 17434174 17434343 - 39 81 50 G A 17434231 606 113 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCATGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412683 17412684 17412684 exon -19 0.7777778 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCATGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant 50 51 0.827759 0.85 0.8388795 244 148 0.8010685 0.8 0.8005342 0.759681 0.7933924 0.5865188 0.7342796 0.06807809 0.05660755 0.2145497 0.0657204 0.7765367 0.6603992 0.06234282 0.140135 0.07779221 FALSE FALSE 0.941 0.004 rs73423037 synonymous_variant&NMD_transcript_variant LOW ABCC8 HGNC 59 ENST00000527905 21/31 rs73423037 1 A:0.0074 A:0.0257 A:0.0043 NA A:0 A:0 A:0 A:0.0291 A:0.0005 CGT G,A 0.00299 11:17412684 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 synonymous_variant 0.641705 0.97094 0.7327 0.533608 0.7411318 0 3.938723e-15 FALSE 0.0024839 ENSE00001664070_012 ENSE00001664070 012 11 17434174 17434343 - 39 81 50 G T 17434243 607 101 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCACTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412695 17412696 17412696 exon -31 0.6296296 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCACTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant 78 41 0.8944155 0.85 0.8722077 509 12 0.008390056 0.02804466 0.01821736 0.759681 0.7933924 0.5865188 0.7342796 0.1347345 0.05660755 -0.5781288 -0.7062349 0.7765367 0.6603992 0.09567104 -0.6421818 0.7378529 TRUE FALSE 0.755 -0.033 . synonymous_variant&NMD_transcript_variant LOW ABCC8 HGNC 59 ENST00000527905 21/31 1 NA GGG G,T 2.471e-05 11:17412696 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 synonymous_variant 0.676391 0.75169 0.50849 0.533608 0.6123902 0 3.938723e-15 FALSE 2.88707e-05 ENSE00001664070_013 ENSE00001664070 013 11 17434174 17434343 - 39 81 50 C T 17434247 608 97 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCAAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412699 17412700 17412700 exon -35 0.5802469 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCAAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 28 117 0.8 0.8 0.8 0.759681 0.7933924 0.5865188 0.7342796 NA NA 0.2134812 0.0657204 0.7765367 0.6603992 NA 0.1396008 NA FALSE NA 1 7.765 . missense_variant&NMD_transcript_variant MODERATE ABCC8 HGNC 59 ENST00000527905 21/31 rs547150342&CM112697 1 deleterious(0) probably_damaging(1) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCG C,T 8.237e-06 11:17412700 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 missense_variant 8.016951 0.99629 0.98722 0.533608 0.9995753 0 3.938723e-15 FALSE NA ENSE00001664070_014 ENSE00001664070 014 11 17434174 17434343 - 39 81 50 G A 17434250 609 94 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGTCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412702 17412703 17412703 exon -38 0.5432099 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGTCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 48 160 0.95 0.8773205 0.9136602 0.759681 0.7933924 0.5865188 0.7342796 NA NA 0.3634812 0.1430409 0.7765367 0.6603992 NA 0.253261 NA FALSE NA 1 9.8 . missense_variant&NMD_transcript_variant MODERATE ABCC8 HGNC 59 ENST00000527905 21/31 1 deleterious(0) probably_damaging(0.994) NA GGC G,A 8.237e-06 11:17412703 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 missense_variant 7.061428 0.99639 0.99248 0.533608 0.9992361 0 3.938723e-15 FALSE NA ENSE00001664070_015 ENSE00001664070 015 11 17434174 17434343 - 39 81 50 C A 17434252 610 92 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTTGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412704 17412705 17412705 exon -40 0.5185185 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTTGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 24 416 0 0.000769617 0.0003848085 0.759681 0.7933924 0.5865188 0.7342796 NA NA -0.5865188 -0.73351 0.7765367 0.6603992 NA -0.6600144 NA TRUE NA 0.998 1.239 rs184329953 synonymous_variant&NMD_transcript_variant LOW ABCC8 HGNC 59 ENST00000527905 21/31 rs184329953 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CCA C,A 2.471e-05 11:17412705 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 synonymous_variant 1.97236 0.98383 0.91289 0.533608 0.7903763 0 3.938723e-15 FALSE 2.88617e-05 ENSE00001664070_017 ENSE00001664070 017 11 17434174 17434343 - 39 81 50 G A 17434263 612 81 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGTGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412715 17412716 17412716 exon 31 0.382716 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGTGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant 234 120 0.85 0.8407637 0.8453818 NA NA NA NA NA 0.759681 0.7933924 0.5865188 0.7342796 0.09031905 0.04737121 NA NA 0.7765367 0.6603992 0.06884513 NA NA NA FALSE 1 2.673 rs72559722 stop_gained&NMD_transcript_variant HIGH ABCC8 HGNC 59 ENST00000527905 21/31 rs72559722&COSM1352946&CM001605 1 NA CGC G,A 5.766e-05 11:17412716 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 stop_gained 12.83483 0.95557 0.88109 0.533608 0.9982846 0 3.938723e-15 FALSE 6.20599e-05 ENSE00001664070_018 ENSE00001664070 018 11 17434174 17434343 - 39 81 50 C T 17434268 613 76 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACACCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412720 17412721 17412721 exon 26 0.3209877 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACACCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 305 36 0.005238799 0.01837388 0.01180634 0.759681 0.7933924 0.5865188 0.7342796 NA NA -0.58128 -0.7159057 0.7765367 0.6603992 NA -0.6485929 NA TRUE NA 1 3.126 . missense_variant&NMD_transcript_variant MODERATE ABCC8 HGNC 59 ENST00000527905 21/31 1 deleterious(0) probably_damaging(0.992) NA GCG C,T 1.647e-05 11:17412721 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 missense_variant 7.605869 0.96066 0.83808 0.533608 0.9995866 0 3.938723e-15 FALSE 2.4936e-05 ENSE00001664070_021 ENSE00001664070 021 11 17434174 17434343 - 39 81 50 G A 17434284 616 60 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACTTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412736 17412737 17412737 exon 10 0.1234568 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACTTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant 99 62 0.85 0.85 0.85 180 10 0.9646746 0.9838469 0.9742607 0.759681 0.7933924 0.5865188 0.7342796 0.09031905 0.05660755 0.3781558 0.2495672 0.7765367 0.6603992 0.0734633 0.3138615 0.2403982 FALSE FALSE 1 4.112 rs1805036 synonymous_variant&NMD_transcript_variant LOW ABCC8 HGNC 59 ENST00000527905 21/31 rs1805036 1 A:0.1202 A:0.289 A:0.0591 NA A:0.0208 A:0.0954 A:0.0634 A:0.2523 A:0.0971 AGG G,A 0.098 11:17412737 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 synonymous_variant 1.020691 0.97113 0.91559 0.533608 0.7455902 0 3.938723e-15 FALSE 0.0966294 ENSE00001664070_022 ENSE00001664070 022 11 17434174 17434343 - 39 81 50 G A 17434310 617 34 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCTTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412762 17412763 17412763 upstr_intron -17 -0.32 TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCTTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 446 277 1 0.9967761 0.9983881 0.759681 0.7933924 0.5865188 0.7342796 NA NA 0.4134812 0.2624965 0.7765367 0.6603992 NA 0.3379889 NA FALSE NA 0.972 1.747 . intron_variant&NMD_transcript_variant MODIFIER ABCC8 HGNC 59 ENST00000527905 20/30 1 NA AGG G,A 8.246e-06 11:17412763 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 intron_variant 2.188786 0.34149 0.3724 0.055872 0.8462469 0.291428 3.938723e-15 FALSE NA ENSE00001664070_023 ENSE00001664070 023 11 17434174 17434343 - 39 81 50 C G 17434314 618 30 TGTCTCCTGAATGGCTGAGGGCATGATGTCTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412766 17412767 17412767 upstr_intron -21 -0.4 TGTCTCCTGAATGGCTGAGGGCATGATGTCTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant 14 30 0.85 0.85 0.85 139 257 0.8206677 0.8 0.8103339 0.759681 0.7933924 0.5865188 0.7342796 0.09031905 0.05660755 0.2341489 0.0657204 0.7765367 0.6603992 0.0734633 0.1499347 0.07647136 FALSE FALSE 0.009 -0.279 . intron_variant&NMD_transcript_variant MODIFIER ABCC8 HGNC 59 ENST00000527905 20/30 1 NA ACA C,G 8.252e-06 11:17412767 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 intron_variant 2.025505 0.24392 0.0962 0.055872 0.7131191 0.273872 3.938723e-15 FALSE 9.27145e-06 ENSE00001664070_024 ENSE00001664070 024 11 17434174 17434343 - 39 81 50 A G 17434317 619 27 TGTCTCCTGAATGGCTGAGGGCATGACGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412769 17412770 17412770 upstr_intron -24 -0.46 TGTCTCCTGAATGGCTGAGGGCATGACGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 869 379 0.969159 0.9720235 0.9705913 0.759681 0.7933924 0.5865188 0.7342796 NA NA 0.3826402 0.2377439 0.7765367 0.6603992 NA 0.310192 NA FALSE NA 0.001 -0.179 . intron_variant&NMD_transcript_variant MODIFIER ABCC8 HGNC 59 ENST00000527905 20/30 1 NA CAT A,G 8.254e-06 11:17412770 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 intron_variant 1.713946 0.24491 0.03776 0.055872 0.7933116 0.273872 3.938723e-15 FALSE NA ENSE00001664070_026 ENSE00001664070 026 11 17434174 17434343 - 39 81 50 C T 17434324 621 20 TGTCTCCTGAATGGCTGAGAGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412776 17412777 17412777 upstr_intron -31 -0.6 TGTCTCCTGAATGGCTGAGAGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant NA NA NA NA NA 544 1177 0.9952132 0.9882488 0.991731 0.759681 0.7933924 0.5865188 0.7342796 NA NA 0.4086944 0.2539692 0.7765367 0.6603992 NA 0.3313318 NA FALSE NA 0 -0.005 . intron_variant&NMD_transcript_variant MODIFIER ABCC8 HGNC 59 ENST00000527905 20/30 rs200351168 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 CCC C,T 6.611e-05 11:17412777 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 intron_variant 1.028314 0.26648 0.04225 0.055872 0.7507076 0.166866 3.938723e-15 FALSE 4.44611e-05 ENSE00001664070_027 ENSE00001664070 027 11 17434174 17434343 - 39 81 50 A G 17434332 622 12 TGTCTCCTGAACGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC 17412626 17412796 17412784 17412785 17412785 upstr_intron -39 -0.76 TGTCTCCTGAACGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC TGTCTCCTGAATGGCTGAGGGCATGATGTGTTCCTCCTCTTTGGTGACAGGGCATCAACCTGTCTGGTGGTCAACGCCAGCGAATCAGTGTGGCCCGAGCCCTCTACCAGCACGCCAACGTTGTCTTCTTGGTGAGTGCAAGTTCCCTTGGGGTCCTGGTCTCTGGCTGC mutant 24 40 0.85 0.85 0.85 113 335 0.8 0.8007544 0.8003772 0.759681 0.7933924 0.5865188 0.7342796 0.09031905 0.05660755 0.2134812 0.06647479 0.7765367 0.6603992 0.0734633 0.139978 0.06651469 FALSE FALSE 0.003 -0.133 . intron_variant&NMD_transcript_variant MODIFIER ABCC8 HGNC 59 ENST00000527905 20/30 1 NA CAT A,G 8.284e-06 11:17412785 ABCC8 HGNC Symbol protein_coding 84381 ENSG00000006071 ENSE00003466753 intron_variant 0.877081 0.3391 0.09548 0.055872 0.8062415 0.166866 3.938723e-15 FALSE 5.31836e-06 ENSE00001664111_000 ENSE00001664111 000 18 21226123 21226292 - 30 99 41 NA NA NA NA NA ATTTTTCTTCAAGTGCAAAGCCTGACCTACCTCTCTCTGGAGATTGATGTCTGCTCCTTGCAGAACCAGTTCCCTCACACAGTCTATGTGGCCAGCGTAGGCAGCAACCATCAGGAGTGTGGTGCCATGCTGGATGGAGGAGAGACAGATGAAGAGTTAGGCCACTGCTA 23646158 23646328 NA NA NA NA NA NA TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT natural 93 231 0.9535554 0.8921174 0.9228364 8572 8186 0.9312711 0.9401903 0.9357307 0.9535554 0.8921174 0.9312711 0.9401903 0 0 0 0 0.9228364 0.9357307 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD29 NA NA NA ENSG00000154065 ENSE00001664111 NA NA NA NA NA NA NA 2.599822e-05 FALSE NA ENSE00001664111_001 ENSE00001664111 001 18 21226123 21226292 - 30 99 41 T G 21226136 258 157 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCCCTTGAAGAAAAAT 23646158 23646328 23646171 23646172 23646172 downstr_intron 17 1.586207 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCCCTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 3263 658 0.972279 0.9787618 0.9755204 0.9535554 0.8921174 0.9312711 0.9401903 NA NA 0.04100788 0.03857145 0.9228364 0.9357307 NA 0.03978966 NA FALSE NA 0 -1.89 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:23646172 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 intron_variant 1.462554 0.14062 0.02806 0.078448 0.7559998 0.203213 2.599822e-05 FALSE 1.62978e-05 ENSE00001664111_002 ENSE00001664111 002 18 21226123 21226292 - 30 99 41 T C 21226136 259 157 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCGCTTGAAGAAAAAT 23646158 23646328 23646171 23646172 23646172 downstr_intron 17 1.586207 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCGCTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 1000 296 0.9643971 0.9581715 0.9612843 0.9535554 0.8921174 0.9312711 0.9401903 NA NA 0.03312603 0.0179812 0.9228364 0.9357307 NA 0.02555361 NA FALSE NA 0 -1.89 NA NA NA ANKRD29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD29 NA NA NA ENSG00000154065 ENSE00001664111 intron_variant 1.259864 0.12494 0.00413 0.078448 0.7404662 0.203213 2.599822e-05 FALSE NA ENSE00001664111_004 ENSE00001664111 004 18 21226123 21226292 - 30 99 41 C A 21226148 261 145 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGTTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646183 23646184 23646184 downstr_intron 5 1.172414 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGTTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 1400 205 0.01613507 0.05590248 0.03601878 0.9535554 0.8921174 0.9312711 0.9401903 NA NA -0.9151361 -0.8842878 0.9228364 0.9357307 NA -0.8997119 NA TRUE NA 0.557 2.982 . splice_region_variant&intron_variant LOW ANKRD29 HGNC 27110 ENST00000284207 3/8 1 NA ACC C,A 8.236e-06 18:23646184 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 splice_region_variant 2.521449 0.98578 0.86264 0.078448 0.9610741 0.98425 2.599822e-05 FALSE 4.06828e-06 ENSE00001664111_006 ENSE00001664111 006 18 21226123 21226292 - 30 99 41 C A 21226152 263 141 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGTTAGGTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646187 23646188 23646188 downstr_intron 1 1.034483 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGTTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 347 1259 0.0200379 0.0009832425 0.01051057 0.9535554 0.8921174 0.9312711 0.9401903 NA NA -0.9112332 -0.9392071 0.9228364 0.9357307 NA -0.9252201 NA TRUE NA 1 7.07 . splice_donor_variant HIGH ANKRD29 HGNC 27110 ENST00000284207 3/8 1 NA HC ACC C,A 8.236e-06 18:23646188 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 splice_donor_variant 6.114156 0.99486 0.98121 0.078448 0.995688 0.989636 2.599822e-05 FALSE 4.06696e-06 ENSE00001664111_007 ENSE00001664111 007 18 21226123 21226292 - 30 99 41 C T 21226153 264 140 ATTTTTCTTCAAGTGCAAAGCCTGACCTACTTCTCTCTGGAGATTGATGTCTGCTCCTTGCAGAACCAGTTCCCTCACACAGTCTATGTGGCCAGCGTAGGCAGCAACCATCAGGAGTGTGGTGCCATGCTGGATGGAGGAGAGACAGATGAAGAGTTAGGCCACTGCTA 23646158 23646328 23646188 23646189 23646189 exon -1 1 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAAGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 164 1278 0.01417737 0.0005365964 0.007356981 0.9535554 0.8921174 0.9312711 0.9401903 NA NA -0.9170938 -0.9396537 0.9228364 0.9357307 NA -0.9283737 NA TRUE NA 1 7.07 . splice_region_variant&synonymous_variant LOW ANKRD29 HGNC 27110 ENST00000284207 3/9 1 NA CCT C,T 8.236e-06 18:23646189 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 splice_region_variant 2.525138 0.99465 0.9769 0.615465 0.8725387 0 2.599822e-05 FALSE 4.06669e-06 ENSE00001664111_008 ENSE00001664111 008 18 21226123 21226292 - 30 99 41 T C 21226167 265 126 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCGATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646202 23646203 23646203 exon -15 0.8585859 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCGATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 334 132 0.9975473 0.9809566 0.989252 0.9535554 0.8921174 0.9312711 0.9401903 NA NA 0.06627617 0.04076634 0.9228364 0.9357307 NA 0.05352125 NA FALSE NA 1 7.269 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 3/9 rs201313724 1 probably_damaging(0.998) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTG T,C 8.236e-06 18:23646203 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 missense_variant 4.697697 0.99295 0.97526 0.615465 0.9939013 0 2.599822e-05 FALSE 4.06415e-06 ENSE00001664111_009 ENSE00001664111 009 18 21226123 21226292 - 30 99 41 C A 21226188 266 105 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGTTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646223 23646224 23646224 exon -36 0.6464646 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGTTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 498 147 0.9778235 0.975604 0.9767138 0.9535554 0.8921174 0.9312711 0.9401903 NA NA 0.04655243 0.03541369 0.9228364 0.9357307 NA 0.04098306 NA FALSE NA 1 4.997 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 3/9 COSM3796320 1 probably_damaging(0.915) NA ACC C,A 8.236e-06 18:23646224 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 missense_variant 6.83018 0.99011 0.94237 0.615465 0.9957685 0 2.599822e-05 FALSE 4.06316e-06 ENSE00001664111_010 ENSE00001664111 010 18 21226123 21226292 - 30 99 41 G A 21226210 267 83 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCATATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646245 23646246 23646246 exon 42 0.4242424 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCATATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 992 2120 0.8605062 0.9490567 0.9047814 0.9535554 0.8921174 0.9312711 0.9401903 NA NA -0.07076496 0.008866422 0.9228364 0.9357307 NA -0.03094927 NA FALSE NA 1 2.989 . synonymous_variant LOW ANKRD29 HGNC 27110 ENST00000284207 3/9 1 NA TGT G,A 8.236e-06 18:23646246 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 synonymous_variant 0.755666 0.97546 0.79814 0.549168 0.560416 0 2.599822e-05 FALSE 2.03164e-05 ENSE00001664111_011 ENSE00001664111 011 18 21226123 21226292 - 30 99 41 G A 21226213 268 80 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGTCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646248 23646249 23646249 exon 39 0.3939394 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGTCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 2062 2549 0.905605 0.945711 0.925658 0.9535554 0.8921174 0.9312711 0.9401903 NA NA -0.02566607 0.005520736 0.9228364 0.9357307 NA -0.01007267 NA FALSE NA 0.381 -0.345 . synonymous_variant LOW ANKRD29 HGNC 27110 ENST00000284207 3/9 1 NA GGC G,A 8.236e-06 18:23646249 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 synonymous_variant 0.979955 0.72954 0.16769 0.549168 0.5546221 0 2.599822e-05 FALSE 4.06385e-06 ENSE00001664111_012 ENSE00001664111 012 18 21226123 21226292 - 30 99 41 C T 21226218 269 75 ATTTTTCTTCAAGTGCAAAGCCTGACCTACCTCTCTCTGGAGATTGATGTCTGCTCCTTGCAGAACCAGTTCCCTCACACAGTCTATGTGGCCAGTGTAGGCAGCAACCATCAGGAGTGTGGTGCCATGCTGGATGGAGGAGAGACAGATGAAGAGTTAGGCCACTGCTA 23646158 23646328 23646253 23646254 23646254 exon 34 0.3434343 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACACTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant 11 13 1 1 1 840 512 0.9980384 0.9990278 0.9985331 0.9535554 0.8921174 0.9312711 0.9401903 0.04644455 0.1078826 0.06676733 0.05883752 0.9228364 0.9357307 0.07716356 0.06280242 0.01436114 FALSE FALSE 0.932 2.672 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 3/9 1 benign(0.095) NA GCG C,T 3.295e-05 18:23646254 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 missense_variant 2.884457 0.92341 0.59599 0.615465 0.9975575 0 2.599822e-05 FALSE 3.25142e-05 ENSE00001664111_013 ENSE00001664111 013 18 21226123 21226292 - 30 99 41 T C 21226220 270 73 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTGCGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646255 23646256 23646256 exon 32 0.3232323 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTGCGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 769 358 0.9957183 0.9940451 0.9948817 0.9535554 0.8921174 0.9312711 0.9401903 NA NA 0.06444718 0.05385475 0.9228364 0.9357307 NA 0.05915096 NA FALSE NA 1 5.531 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 3/9 1 probably_damaging(0.943) NA GTA T,C 8.236e-06 18:23646256 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 missense_variant 3.626908 0.98756 0.94752 0.615465 0.9979419 0 2.599822e-05 FALSE 8.12816e-06 ENSE00001664111_014 ENSE00001664111 014 18 21226123 21226292 - 30 99 41 A G 21226225 271 68 ATTTTTCTTCAAGTGCAAAGCCTGACCTACCTCTCTCTGGAGATTGATGTCTGCTCCTTGCAGAACCAGTTCCCTCACACAGTCTATGTGGCCAGCGTAGGCGGCAACCATCAGGAGTGTGGTGCCATGCTGGATGGAGGAGAGACAGATGAAGAGTTAGGCCACTGCTA 23646158 23646328 23646260 23646261 23646261 exon 27 0.2727273 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCCGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant 11 14 0.85 0.85 0.85 562 704 0.7969637 0.8004102 0.7986869 0.9535554 0.8921174 0.9312711 0.9401903 -0.1035554 -0.04211744 -0.1343075 -0.1397801 0.9228364 0.9357307 -0.07283644 -0.1370438 0.06420733 FALSE FALSE 0.24 -0.205 . synonymous_variant LOW ANKRD29 HGNC 27110 ENST00000284207 3/9 rs370373437 1 NA G:0.0002 G:0 CAG A,G 8.236e-06 18:23646261 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 synonymous_variant 0.744038 0.9606 0.18707 0.615465 0.6848809 0 2.599822e-05 FALSE 1.626e-05 ENSE00001664111_015 ENSE00001664111 015 18 21226123 21226292 - 30 99 41 A G 21226232 272 61 ATTTTTCTTCAAGTGCAAAGCCTGACCTACCTCTCTCTGGAGATTGATGTCTGCTCCTTGCAGAACCAGTTCCCTCACACAGTCTATGTGGCCAGCGTAGGCAGCAACCGTCAGGAGTGTGGTGCCATGCTGGATGGAGGAGAGACAGATGAAGAGTTAGGCCACTGCTA 23646158 23646328 23646267 23646268 23646268 exon 20 0.2020202 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGACGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 390 49 0.9973644 1 0.9986822 0.9535554 0.8921174 0.9312711 0.9401903 NA NA 0.06609333 0.05980969 0.9228364 0.9357307 NA 0.06295151 NA FALSE NA 1 8.445 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 3/9 1 probably_damaging(0.99) NA CAT A,G 8.236e-06 18:23646268 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 missense_variant 4.145272 0.99285 0.98207 0.615465 0.9923713 0 2.599822e-05 FALSE NA ENSE00001664111_016 ENSE00001664111 016 18 21226123 21226292 - 30 99 41 G A 21226244 273 49 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCATCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646279 23646280 23646280 exon 8 0.08080808 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCATCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 1245 14 0.9942088 1 0.9971044 0.9535554 0.8921174 0.9312711 0.9401903 NA NA 0.06293768 0.05980969 0.9228364 0.9357307 NA 0.06137368 NA FALSE NA 1 8.925 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 3/9 1 possibly_damaging(0.72) NA GGT G,A 8.236e-06 18:23646280 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 missense_variant 5.839568 0.99449 0.98354 0.615465 0.9984703 0 2.599822e-05 FALSE 4.0699e-06 ENSE00001664111_018 ENSE00001664111 018 18 21226123 21226292 - 30 99 41 C A 21226252 275 41 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCATCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT 23646158 23646328 23646287 23646288 23646288 upstr_intron -1 0 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCATCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant 199 145 0 0 0 NA NA NA NA NA 0.9535554 0.8921174 0.9312711 0.9401903 -0.9535554 -0.8921174 NA NA 0.9228364 0.9357307 -0.9228364 NA NA NA TRUE 1 7.07 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:23646288 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 splice_acceptor_variant 5.552518 0.99458 0.97817 0.078448 0.994948 0.987038 2.599822e-05 FALSE 8.14631e-06 ENSE00001664111_019 ENSE00001664111 019 18 21226123 21226292 - 30 99 41 C T 21226252 276 41 ATTTTTCTTCAAGTGCAAAGCCTGACCTACCTCTCTCTGGAGATTGATGTCTGCTCCTTGCAGAACCAGTTCCCTCACACAGTCTATGTGGCCAGCGTAGGCAGCAACCATCAGGAGTGTGGTGCCATGTTGGATGGAGGAGAGACAGATGAAGAGTTAGGCCACTGCTA 23646158 23646328 23646287 23646288 23646288 upstr_intron -1 0 TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAACATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 223 538 0.03639179 0.01231293 0.02435236 0.9535554 0.8921174 0.9312711 0.9401903 NA NA -0.8948793 -0.9278774 0.9228364 0.9357307 NA -0.9113783 NA TRUE NA 1 7.07 NA NA NA ANKRD29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD29 NA NA NA ENSG00000154065 ENSE00001664111 splice_acceptor_variant 5.578101 0.99436 0.97257 0.078448 0.9949761 0.987038 2.599822e-05 FALSE 1.22195e-05 ENSE00001664111_020 ENSE00001664111 020 18 21226123 21226292 - 30 99 41 A G 21226269 277 24 ATTTTTCTTCAAGTGCAAAGCCTGACCTACCTCTCTCTGGAGATTGATGTCTGCTCCTTGCAGAACCAGTTCCCTCACACAGTCTATGTGGCCAGCGTAGGCAGCAACCATCAGGAGTGTGGTGCCATGCTGGATGGAGGAGAGACGGATGAAGAGTTAGGCCACTGCTA 23646158 23646328 23646304 23646305 23646305 upstr_intron -18 -0.4146341 TAGCAGTGGCCTAACTCTTCATCCGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 109 671 0.8247435 0.8159328 0.8203382 0.9535554 0.8921174 0.9312711 0.9401903 NA NA -0.1065276 -0.1242575 0.9228364 0.9357307 NA -0.1153926 NA FALSE NA 0.749 4.602 . intron_variant MODIFIER ANKRD29 HGNC 27110 ENST00000284207 2/8 1 NA CAG A,G 1.647e-05 18:23646305 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 non_coding_transcript_exon_variant 1.508723 0.66801 0.58987 0.078448 0.8711665 0.780173 2.599822e-05 FALSE 8.1821e-06 ENSE00001664111_022 ENSE00001664111 022 18 21226123 21226292 - 30 99 41 A G 21226275 279 18 ATTTTTCTTCAAGTGCAAAGCCTGACCTACCTCTCTCTGGAGATTGATGTCTGCTCCTTGCAGAACCAGTTCCCTCACACAGTCTATGTGGCCAGCGTAGGCAGCAACCATCAGGAGTGTGGTGCCATGCTGGATGGAGGAGAGACAGATGAGGAGTTAGGCCACTGCTA 23646158 23646328 23646310 23646311 23646311 upstr_intron -24 -0.5609756 TAGCAGTGGCCTAACTCCTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT TAGCAGTGGCCTAACTCTTCATCTGTCTCTCCTCCATCCAGCATGGCACCACACTCCTGATGGTTGCTGCCTACGCTGGCCACATAGACTGTGTGAGGGAACTGGTTCTGCAAGGAGCAGACATCAATCTCCAGAGAGAGGTAGGTCAGGCTTTGCACTTGAAGAAAAAT mutant NA NA NA NA NA 219 2301 0.8675246 0.9319259 0.8997253 0.9535554 0.8921174 0.9312711 0.9401903 NA NA -0.06374651 -0.008264386 0.9228364 0.9357307 NA -0.03600545 NA FALSE NA 0 -0.028 rs183573022 intron_variant MODIFIER ANKRD29 HGNC 27110 ENST00000284207 2/8 rs183573022 1 G:0.0026 G:0.0098 G:0 NA G:0 G:0 G:0 G:0.0086 G:0 AAG A,G 0.0008731 18:23646311 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00001664111 non_coding_transcript_exon_variant 1.211692 0.33337 0.08217 0.078448 0.7904024 0.195581 2.599822e-05 FALSE 0.000626782 ENSE00001665059_000 ENSE00001665059 000 4 80929643 80929812 - 32 96 42 NA NA NA NA NA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 NA NA NA NA NA NA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA natural NA NA NA NA NA 3368 3435 0.9336389 0.9678416 0.9507402 NA NA 0.9336389 0.9678416 NA NA 0 0 NA 0.9507402 NA 0 NA FALSE NA NA NA NA NA NA ANTXR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR2 NA NA NA ENSG00000163297 ENSE00003593368 NA NA NA NA NA NA NA 0.4051887 FALSE NA ENSE00001665059_001 ENSE00001665059 001 4 80929643 80929812 - 32 96 42 T C 80929654 838 159 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAGCTCTACTTAAA 80008488 80008658 80008499 80008500 80008500 downstr_intron 21 1.677419 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAGCTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 461 495 1 0.9978968 0.9989484 NA NA 0.9336389 0.9678416 NA NA 0.06636107 0.03005523 NA 0.9507402 NA 0.04820815 NA FALSE NA 0 -0.223 . intron_variant MODIFIER ANTXR2 HGNC 21732 ENST00000307333 12/15 1 NA GTT T,C 8.276e-06 4:80008500 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 intron_variant 1.270755 0.15423 0.02443 0.084569 0.781359 0.0710293 0.4051887 FALSE 4.25891e-06 ENSE00001665059_002 ENSE00001665059 002 4 80929643 80929812 - 32 96 42 T C 80929655 839 158 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACGACTCTACTTAAA 80008488 80008658 80008500 80008501 80008501 downstr_intron 20 1.645161 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACGACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 370 580 0.9979806 1 0.9989903 NA NA 0.9336389 0.9678416 NA NA 0.06434164 0.03215845 NA 0.9507402 NA 0.04825004 NA FALSE NA 0.005 0.895 . intron_variant MODIFIER ANTXR2 HGNC 21732 ENST00000307333 12/15 1 NA TTG T,C 8.275e-06 4:80008501 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 intron_variant 1.229363 0.19559 0.0982 0.084569 0.7553269 0.0710293 0.4051887 FALSE NA ENSE00001665059_003 ENSE00001665059 003 4 80929643 80929812 - 32 96 42 G C 80929656 840 157 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTAGAACTCTACTTAAA 80008488 80008658 80008501 80008502 80008502 downstr_intron 19 1.612903 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTAGAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 667 258 0.9885605 0.9923594 0.99046 NA NA 0.9336389 0.9678416 NA NA 0.05492162 0.02451783 NA 0.9507402 NA 0.03971972 NA FALSE NA 0 0.19 . intron_variant MODIFIER ANTXR2 HGNC 21732 ENST00000307333 12/15 rs200250276 1 C:0.0018 C:0.0008 C:0.0014 NA C:0 C:0.007 C:0 C:0.0013 C:0.005 TGT G,C 0.00278 4:80008502 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 intron_variant 0.851625 0.16883 0.10894 0.084569 0.7073572 0.0710293 0.4051887 FALSE NA ENSE00001665059_005 ENSE00001665059 005 4 80929643 80929812 - 32 96 42 G A 80929681 842 132 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGTAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008526 80008527 80008527 exon -7 0.9375 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGTAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 78 24 1 1 1 NA NA 0.9336389 0.9678416 NA NA 0.06636107 0.03215845 NA 0.9507402 NA 0.04925976 NA FALSE NA 1 4.016 . synonymous_variant LOW ANTXR2 HGNC 21732 ENST00000307333 12/16 1 NA TGC G,A 1.655e-05 4:80008527 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 synonymous_variant 1.031892 0.9836 0.90633 0.75658 0.6908662 0 0.4051887 FALSE 8.29889e-06 ENSE00001665059_006 ENSE00001665059 006 4 80929643 80929812 - 32 96 42 G A 80929690 843 123 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCTCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008535 80008536 80008536 exon -16 0.84375 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCTCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 99 1155 1 0.9966025 0.9983013 NA NA 0.9336389 0.9678416 NA NA 0.06636107 0.02876095 NA 0.9507402 NA 0.04756101 NA FALSE NA 0.995 0.193 . synonymous_variant LOW ANTXR2 HGNC 21732 ENST00000307333 12/16 1 NA GGG G,A 1.654e-05 4:80008536 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 synonymous_variant 1.235706 0.93172 0.40705 0.75658 0.7018164 0 0.4051887 FALSE 8.3011e-06 ENSE00001665059_007 ENSE00001665059 007 4 80929643 80929812 - 32 96 42 G A 80929691 844 122 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCTCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008536 80008537 80008537 exon -17 0.8333333 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCTCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 465 506 0.9979465 0.99894 0.9984433 NA NA 0.9336389 0.9678416 NA NA 0.06430756 0.03109849 NA 0.9507402 NA 0.04770302 NA FALSE NA 1 6.955 . missense_variant MODERATE ANTXR2 HGNC 21732 ENST00000307333 12/16 1 deleterious(0.03) probably_damaging(1) NA GGG G,A 1.654e-05 4:80008537 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 missense_variant 6.899226 0.9836 0.95517 0.75658 0.9988618 0 0.4051887 FALSE 8.29036e-06 ENSE00001665059_008 ENSE00001665059 008 4 80929643 80929812 - 32 96 42 C T 80929708 845 105 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTAATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008553 80008554 80008554 exon -34 0.65625 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTAATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 226 39 0.9954725 1 0.9977363 NA NA 0.9336389 0.9678416 NA NA 0.06183361 0.03215845 NA 0.9507402 NA 0.04699603 NA FALSE NA 1 0.39 . synonymous_variant LOW ANTXR2 HGNC 21732 ENST00000307333 12/16 1 NA TCA C,T 8.272e-06 4:80008554 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 synonymous_variant 1.39769 0.96435 0.6467 0.75658 0.7481666 0 0.4051887 FALSE NA ENSE00001665059_009 ENSE00001665059 009 4 80929643 80929812 - 32 96 42 C T 80929713 846 100 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCAGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008558 80008559 80008559 exon -39 0.6041667 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCAGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 38 153 1 0.9997509 0.9998754 NA NA 0.9336389 0.9678416 NA NA 0.06636107 0.03190932 NA 0.9507402 NA 0.04913519 NA FALSE NA 0.733 2.84 . missense_variant MODERATE ANTXR2 HGNC 21732 ENST00000307333 12/16 1 deleterious(0.03) possibly_damaging(0.509) NA CCG C,T 2.482e-05 4:80008559 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 missense_variant 5.979147 0.96345 0.33932 0.75658 0.9937036 0 0.4051887 FALSE 2.06694e-05 ENSE00001665059_010 ENSE00001665059 010 4 80929643 80929812 - 32 96 42 G A 80929714 847 99 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATTGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008559 80008560 80008560 exon -40 0.59375 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATTGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 280 532 0.9820063 0.9463824 0.9641944 NA NA 0.9336389 0.9678416 NA NA 0.04836739 -0.02145914 NA 0.9507402 NA 0.01345413 NA FALSE NA 0.001 -2.082 NA NA NA ANTXR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:80008560 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 synonymous_variant 1.687164 0.11516 0.01123 0.75658 0.67013 0 0.4051887 FALSE 1.67221e-05 ENSE00001665059_012 ENSE00001665059 012 4 80929643 80929812 - 32 96 42 C G 80929729 849 84 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTCCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008574 80008575 80008575 exon 42 0.4375 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTCCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 568 85 0.9860935 1 0.9930467 NA NA 0.9336389 0.9678416 NA NA 0.05245452 0.03215845 NA 0.9507402 NA 0.04230648 NA FALSE NA 0.986 -0.214 . synonymous_variant LOW ANTXR2 HGNC 21732 ENST00000307333 12/16 1 NA GCA C,G 8.273e-06 4:80008575 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 synonymous_variant 0.742571 0.55261 0.30574 0.75658 0.5683998 0 0.4051887 FALSE 4.17913e-06 ENSE00001665059_013 ENSE00001665059 013 4 80929643 80929812 - 32 96 42 C T 80929755 850 58 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAACCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008600 80008601 80008601 exon 16 0.1666667 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAACCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 181 94 0.9887688 0.8812445 0.9350067 NA NA 0.9336389 0.9678416 NA NA 0.05512986 -0.08659702 NA 0.9507402 NA -0.01573358 NA FALSE NA 1 2.138 . missense_variant MODERATE ANTXR2 HGNC 21732 ENST00000307333 12/16 1 tolerated(0.11) possibly_damaging(0.83) NA GCT C,T 8.273e-06 4:80008601 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 missense_variant 5.139127 0.94634 0.58426 0.75658 0.9955168 0 0.4051887 FALSE 1.26823e-05 ENSE00001665059_014 ENSE00001665059 014 4 80929643 80929812 - 32 96 42 G A 80929757 851 56 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGTAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008602 80008603 80008603 exon 14 0.1458333 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGTAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 100 281 1 0.986406 0.993203 NA NA 0.9336389 0.9678416 NA NA 0.06636107 0.01856448 NA 0.9507402 NA 0.04246277 NA FALSE NA 0.998 2.139 . missense_variant MODERATE ANTXR2 HGNC 21732 ENST00000307333 12/16 1 tolerated(0.55) benign(0.021) NA TGC G,A 6.618e-05 4:80008603 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 missense_variant 1.901183 0.91192 0.36774 0.75658 0.5644844 0 0.4051887 FALSE 5.49576e-05 ENSE00001665059_015 ENSE00001665059 015 4 80929643 80929812 - 32 96 42 C T 80929758 852 55 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCACAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008603 80008604 80008604 exon 13 0.1354167 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCACAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 228 1006 1 0.9947763 0.9973881 NA NA 0.9336389 0.9678416 NA NA 0.06636107 0.02693472 NA 0.9507402 NA 0.04664789 NA FALSE NA 0.994 2.264 . missense_variant MODERATE ANTXR2 HGNC 21732 ENST00000307333 12/16 COSM1058028&COSM1058029 1 tolerated(0.41) possibly_damaging(0.667) NA GCG C,T 2.482e-05 4:80008604 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 missense_variant 4.731745 0.92834 0.44567 0.75658 0.9966862 0 0.4051887 FALSE NA ENSE00001665059_016 ENSE00001665059 016 4 80929643 80929812 - 32 96 42 G A 80929759 853 54 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATTGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008604 80008605 80008605 exon 12 0.125 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATTGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 143 281 1 0.9994368 0.9997184 NA NA 0.9336389 0.9678416 NA NA 0.06636107 0.03159521 NA 0.9507402 NA 0.04897814 NA FALSE NA 0 -1.922 . synonymous_variant LOW ANTXR2 HGNC 21732 ENST00000307333 12/16 rs372195102 1 NA A:0.0003 A:0.0001 CGA G,A 4.137e-05 4:80008605 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 synonymous_variant 1.494436 0.8628 0.01942 0.75658 0.7362788 0 0.4051887 FALSE 5.10044e-05 ENSE00001665059_017 ENSE00001665059 017 4 80929643 80929812 - 32 96 42 G A 80929765 854 48 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAATGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008610 80008611 80008611 exon 6 0.0625 AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAATGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 15 342 1 1 1 NA NA 0.9336389 0.9678416 NA NA 0.06636107 0.03215845 NA 0.9507402 NA 0.04925976 NA FALSE NA 0.633 0.295 . synonymous_variant LOW ANTXR2 HGNC 21732 ENST00000307333 12/16 1 NA CGT A,A 3.309e-05 4:80008611 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 synonymous_variant 0.665224 0.18078 0.01487 0.75658 0.4846258 0 0.4051887 FALSE 2.1578e-05 ENSE00001665059_021 ENSE00001665059 021 4 80929643 80929812 - 32 96 42 G A 80929798 858 15 AGCTGTGCTGACTGTTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008643 80008644 80008644 upstr_intron -28 -0.6428571 AGCTGTGCTGACTGTTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 585 557 0.9934916 0.9771846 0.9853381 NA NA 0.9336389 0.9678416 NA NA 0.05985263 0.009343022 NA 0.9507402 NA 0.03459783 NA FALSE NA 0.006 0.925 . intron_variant MODIFIER ANTXR2 HGNC 21732 ENST00000307333 11/15 1 NA AGC G,A 1.656e-05 4:80008644 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 intron_variant 0.203915 0.18531 0.00488 0.057505 0.586267 0.044906 0.4051887 FALSE NA ENSE00001665059_022 ENSE00001665059 022 4 80929643 80929812 - 32 96 42 C T 80929799 859 14 AGCTGTGCTGACTACTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 80008644 80008645 80008645 upstr_intron -29 -0.6666667 AGCTGTGCTGACTACTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA mutant NA NA NA NA NA 159 1516 0.9990348 0.9941125 0.9965737 NA NA 0.9336389 0.9678416 NA NA 0.06539589 0.02627093 NA 0.9507402 NA 0.04583341 NA FALSE NA 0 -0.884 . intron_variant MODIFIER ANTXR2 HGNC 21732 ENST00000307333 11/15 1 NA GCA C,T 8.28e-06 4:80008645 ANTXR2 HGNC Symbol protein_coding 224305 ENSG00000163297 ENSE00003593368 intron_variant 0.10673 0.08806 0.01318 0.057505 0.6418292 0.044906 0.4051887 FALSE NA ENSE00001665059_BRK ENSE00001665059 BRK 4 80929643 80929812 - 32 96 42 A,G; T,T NA NA NA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTTTTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGCCGAGTAAGAAGGATTTACAACTCTACTTAAA 80008488 80008658 NA NA NA NA NA NA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTTTTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGCCGAGTAAGAAGGATTTACAACTCTACTTAAA AGCTGTGCTGACTGCTTTGTTTTTGCTTTTTGCCTACTTTAGTCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTGAGTAAGAAGGATTTACAACTCTACTTAAA control 19 91 0 0 0 498 646 0.0009831327 0.0004953499 0.0007392413 NA NA 0.9336389 0.9678416 NA NA -0.9326558 -0.9673462 NA 0.9507402 NA -0.950001 NA TRUE NA NA NA NA NA NA ANTXR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR2 NA NA NA ENSG00000163297 ENSE00003593368 NA NA NA NA NA NA NA 0.4051887 FALSE NA ENSE00001665537_000 ENSE00001665537 000 3 42597375 42597544 - 47 66 57 NA NA NA NA NA ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 NA NA NA NA NA NA ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC natural 26 57 0.9985406 1 0.9992703 3120 1873 0.9025555 0.9913034 0.9469294 0.9985406 1 0.9025555 0.9913034 0 0 0 0 0.9992703 0.9469294 0 0 0 FALSE FALSE NA NA NA NA NA SEC22C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC22C NA NA NA ENSG00000093183 ENSE00003570836 NA NA NA NA NA NA NA 1.723808e-06 FALSE NA ENSE00001665537_001 ENSE00001665537 001 3 42597375 42597544 - 47 66 57 G A 42597386 664 159 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATTCATGACCTTAC 42555882 42556052 42555893 42555894 42555894 downstr_intron 36 1.782609 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATTCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 366 73 1 1 1 0.9985406 1 0.9025555 0.9913034 NA NA 0.09744448 0.008696634 0.9992703 0.9469294 NA 0.05307055 NA FALSE NA 0 0.229 . intron_variant MODIFIER SEC22C HGNC 16828 ENST00000264454 6/6 1 NA GGA G,A 1.647e-05 3:42555894 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 intron_variant 0.262299 0.15847 0.06583 0.156188 0.6300165 0.0867207 1.723808e-06 FALSE 4.51508e-05 ENSE00001665537_002 ENSE00001665537 002 3 42597375 42597544 - 47 66 57 T C 42597393 665 152 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGGTTAAATCCATGACCTTAC 42555882 42556052 42555900 42555901 42555901 downstr_intron 29 1.630435 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGGTTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 401 1518 0.9991761 0.9978851 0.9985306 0.9985406 1 0.9025555 0.9913034 NA NA 0.09662056 0.006581717 0.9992703 0.9469294 NA 0.05160114 NA FALSE NA 0 -0.283 . intron_variant MODIFIER SEC22C HGNC 16828 ENST00000264454 6/6 1 NA ATC T,C 8.236e-06 3:42555901 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 intron_variant -0.013657 0.08752 0.00453 0.156188 0.4385661 0.0875422 1.723808e-06 FALSE NA ENSE00001665537_003 ENSE00001665537 003 3 42597375 42597544 - 47 66 57 C T 42597410 666 135 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACAATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555917 42555918 42555918 downstr_intron 12 1.26087 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACAATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 91 28 1 1 1 0.9985406 1 0.9025555 0.9913034 NA NA 0.09744448 0.008696634 0.9992703 0.9469294 NA 0.05307055 NA FALSE NA 0 -0.185 rs144058451 intron_variant MODIFIER SEC22C HGNC 16828 ENST00000264454 6/6 rs144058451 1 T:0.0054 T:0 T:0.013 NA T:0 T:0.0139 T:0.0041 T:0.0025 T:0.0147 TCG C,T 0.01 3:42555918 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 intron_variant 1.958526 0.17821 0.00787 0.156188 0.7960271 0.21442 1.723808e-06 FALSE 0.0105608 ENSE00001665537_006 ENSE00001665537 006 3 42597375 42597544 - 47 66 57 G T 42597424 669 121 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCAAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555931 42555932 42555932 exon -3 0.969697 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCAAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 417 36 1 1 1 0.9985406 1 0.9025555 0.9913034 NA NA 0.09744448 0.008696634 0.9992703 0.9469294 NA 0.05307055 NA FALSE NA 1 4.179 . missense_variant&splice_region_variant MODERATE SEC22C HGNC 16828 ENST00000264454 6/7 1 deleterious(0) possibly_damaging(0.892) NA TGG G,T 8.236e-06 3:42555932 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 missense_variant 6.015774 0.9776 0.96526 0.706548 0.9905571 0 1.723808e-06 FALSE 4.07266e-06 ENSE00001665537_008 ENSE00001665537 008 3 42597375 42597544 - 47 66 57 G A 42597440 671 105 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTTGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555947 42555948 42555948 exon -19 0.7272727 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTTGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 360 290 0.8825508 1 0.9412754 0.9985406 1 0.9025555 0.9913034 NA NA -0.0200047 0.008696634 0.9992703 0.9469294 NA -0.005654035 NA FALSE NA 0.997 1.018 . synonymous_variant LOW SEC22C HGNC 16828 ENST00000264454 6/7 COSM1044702 1 NA CGA G,A 3.295e-05 3:42555948 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 synonymous_variant 1.940289 0.89735 0.02684 0.706548 0.6333861 0 1.723808e-06 FALSE 3.25672e-05 ENSE00001665537_009 ENSE00001665537 009 3 42597375 42597544 - 47 66 57 A T 42597441 672 104 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTACGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555948 42555949 42555949 exon -20 0.7121212 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTACGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 1085 787 0.999544 1 0.999772 0.9985406 1 0.9025555 0.9913034 NA NA 0.09698843 0.008696634 0.9992703 0.9469294 NA 0.05284253 NA FALSE NA 1 4.266 . missense_variant MODERATE SEC22C HGNC 16828 ENST00000264454 6/7 1 deleterious(0.03) possibly_damaging(0.661) NA GAA A,T 8.236e-06 3:42555949 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 missense_variant 4.067294 0.97789 0.96057 0.706548 0.9755065 0 1.723808e-06 FALSE 4.06984e-06 ENSE00001665537_010 ENSE00001665537 010 3 42597375 42597544 - 47 66 57 A G 42597450 673 95 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCCTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555957 42555958 42555958 exon -29 0.5757576 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCCTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 71 22 0.9978346 1 0.9989173 0.9985406 1 0.9025555 0.9913034 NA NA 0.09527907 0.008696634 0.9992703 0.9469294 NA 0.05198785 NA FALSE NA 1 5.89 . missense_variant MODERATE SEC22C HGNC 16828 ENST00000264454 6/7 1 deleterious(0) possibly_damaging(0.779) NA AAG A,G 8.236e-06 3:42555958 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 missense_variant 6.566022 0.98612 0.98189 0.706548 0.9990273 0 1.723808e-06 FALSE 4.07232e-06 ENSE00001665537_011 ENSE00001665537 011 3 42597375 42597544 - 47 66 57 G A 42597451 674 94 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTTTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555958 42555959 42555959 exon -30 0.5606061 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTTTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 142 485 1 0.9716561 0.9858281 0.9985406 1 0.9025555 0.9913034 NA NA 0.09744448 -0.01964722 0.9992703 0.9469294 NA 0.03889863 NA FALSE NA 1 0.931 . missense_variant MODERATE SEC22C HGNC 16828 ENST00000264454 6/7 1 tolerated(1) benign(0.006) NA AGA G,A 2.471e-05 3:42555959 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 missense_variant 1.30281 0.96103 0.79108 0.706548 0.4002211 0 1.723808e-06 FALSE 1.22244e-05 ENSE00001665537_012 ENSE00001665537 012 3 42597375 42597544 - 47 66 57 G T 42597460 675 85 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTATGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555967 42555968 42555968 exon 28 0.4242424 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTATGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 14 40 1 1 1 0.9985406 1 0.9025555 0.9913034 NA NA 0.09744448 0.008696634 0.9992703 0.9469294 NA 0.05307055 NA FALSE NA 0.1 0.148 . missense_variant MODERATE SEC22C HGNC 16828 ENST00000264454 6/7 COSM3373181&COSM3373180 1 tolerated(0.19) benign(0.024) NA AGA G,T 1.647e-05 3:42555968 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 missense_variant 1.57802 0.44365 0.062 0.706548 0.9103055 0 1.723808e-06 FALSE 8.15468e-06 ENSE00001665537_014 ENSE00001665537 014 3 42597375 42597544 - 47 66 57 T C 42597480 677 65 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCGTGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555987 42555988 42555988 exon 8 0.1212121 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCGTGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 115 161 1 1 1 0.9985406 1 0.9025555 0.9913034 NA NA 0.09744448 0.008696634 0.9992703 0.9469294 NA 0.05307055 NA FALSE NA 0.8 0.906 rs189708135 missense_variant MODERATE SEC22C HGNC 16828 ENST00000264454 6/7 rs189708135 1 tolerated(0.27) benign(0.001) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATG T,C 8.237e-06 3:42555988 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 missense_variant 1.217488 0.67651 0.4607 0.706548 0.9470433 0 1.723808e-06 FALSE 8.15661e-06 ENSE00001665537_015 ENSE00001665537 015 3 42597375 42597544 - 47 66 57 A G 42597490 678 55 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTCAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42555997 42555998 42555998 upstr_intron -3 -0.03508772 ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTCAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 59 27 1 1 1 0.9985406 1 0.9025555 0.9913034 NA NA 0.09744448 0.008696634 0.9992703 0.9469294 NA 0.05307055 NA FALSE NA 0.431 0.572 . splice_region_variant&intron_variant LOW SEC22C HGNC 16828 ENST00000264454 5/6 rs550344857 1 G:0.0008 G:0 G:0 NA G:0 G:0 G:0.0041 TAA A,G 0.0003048 3:42555998 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 splice_region_variant 1.376975 0.70243 0.24342 0.099367 0.7760414 0.28923 1.723808e-06 FALSE 0.000225034 ENSE00001665537_017 ENSE00001665537 017 3 42597375 42597544 - 47 66 57 A G 42597520 680 25 ACAGTGTTTCCTTTCATCTAAATACCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42556027 42556028 42556028 upstr_intron -33 -0.5614035 ACAGTGTTTCCTTTCATCTAAATACCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 368 1101 0.9994395 0.9990962 0.9992679 0.9985406 1 0.9025555 0.9913034 NA NA 0.09688398 0.007792832 0.9992703 0.9469294 NA 0.05233841 NA FALSE NA 0 -1.365 . intron_variant MODIFIER SEC22C HGNC 16828 ENST00000264454 5/6 1 NA GAT A,G 8.237e-06 3:42556028 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 intron_variant 0.066219 0.15696 0.08682 0.099367 0.6759153 0.0848212 1.723808e-06 FALSE 4.2239e-06 ENSE00001665537_018 ENSE00001665537 018 3 42597375 42597544 - 47 66 57 T C 42597521 681 24 ACAGTGTTTCCTTTCATCTAAATGTCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42556028 42556029 42556029 upstr_intron -34 -0.5789474 ACAGTGTTTCCTTTCATCTAAATGTCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 4136 106 0.9993562 0.9996402 0.9994982 0.9985406 1 0.9025555 0.9913034 NA NA 0.09680064 0.008336798 0.9992703 0.9469294 NA 0.05256872 NA FALSE NA 0 -0.287 . intron_variant MODIFIER SEC22C HGNC 16828 ENST00000264454 5/6 1 NA ATA T,C 8.237e-06 3:42556029 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 intron_variant 0.20984 0.21972 0.19187 0.099367 0.7194024 0.0490206 1.723808e-06 FALSE 4.24899e-06 ENSE00001665537_019 ENSE00001665537 019 3 42597375 42597544 - 47 66 57 G A 42597527 682 18 ACAGTGTTTCCTTTCATTTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42556034 42556035 42556035 upstr_intron -40 -0.6842105 ACAGTGTTTCCTTTCATTTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 73 234 0.9723872 0.9577949 0.9650911 0.9985406 1 0.9025555 0.9913034 NA NA 0.06983164 -0.03350843 0.9992703 0.9469294 NA 0.01816161 NA FALSE NA 0.005 1.915 . intron_variant MODIFIER SEC22C HGNC 16828 ENST00000264454 5/6 1 NA AGA G,A 8.237e-06 3:42556035 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 intron_variant 0.128318 0.23845 0.22268 0.099367 0.3869861 0.0490206 1.723808e-06 FALSE 4.31444e-06 ENSE00001665537_020 ENSE00001665537 020 3 42597375 42597544 - 47 66 57 G T 42597530 683 15 ACAGTGTTTCCTTTAATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC 42555882 42556052 42556037 42556038 42556038 upstr_intron -43 -0.7368421 ACAGTGTTTCCTTTAATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC ACAGTGTTTCCTTTCATCTAAATATCCCTTTCCTTGTGTTCCTTGTATTTGTTTTAGGTTGCCCATGAGGAAATTGGAAACATTCTGGCTTTTCTTGTTCCTTTCGTAGCCTGCATTTTCCAGGTGGGTGAAACGATATTTTGGTCAGTGGATTAAATCCATGACCTTAC mutant NA NA NA NA NA 1643 713 0.9981956 0.9997781 0.9989869 0.9985406 1 0.9025555 0.9913034 NA NA 0.09564006 0.008474757 0.9992703 0.9469294 NA 0.05205741 NA FALSE NA 0 0.308 . intron_variant MODIFIER SEC22C HGNC 16828 ENST00000264454 5/6 1 NA TGA G,T 8.237e-06 3:42556038 SEC22C HGNC Symbol protein_coding 53111 ENSG00000093183 ENSE00003570836 intron_variant -0.16656 0.20942 0.14318 0.099367 0.3968751 0.0908163 1.723808e-06 FALSE 8.71802e-06 ENSE00001665782_000 ENSE00001665782 000 2 24435489 24435658 - 30 99 41 NA NA NA NA NA GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 NA NA NA NA NA NA GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG natural 102 120 0.9344554 0.9850842 0.9597698 1217 1641 0.9765252 0.9847964 0.9806608 0.9344554 0.9850842 0.9765252 0.9847964 0 0 0 0 0.9597698 0.9806608 0 0 0 FALSE FALSE NA NA NA NA NA ITSN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITSN2 NA NA NA ENSG00000198399 ENSE00001665782 NA NA NA NA NA NA NA 0.02443369 FALSE NA ENSE00001665782_001 ENSE00001665782 001 2 24435489 24435658 - 30 99 41 T A 24435499 290 160 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCTGTGGGGTCTG 24212619 24212789 24212629 24212630 24212630 downstr_intron 20 1.689655 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCTGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 1118 49 0.9991132 1 0.9995566 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02258804 0.01520361 0.9597698 0.9806608 NA 0.01889582 NA FALSE NA 0 -3.498 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA CTG T,A 8.237e-06 2:24212630 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 intron_variant 0.153674 0.13954 0.01327 0.099367 0.4672538 0.0634511 0.02443369 FALSE 4.45224e-06 ENSE00001665782_002 ENSE00001665782 002 2 24435489 24435658 - 30 99 41 C T 24435503 291 156 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCAGGCAGTGGGGTCTG 24212619 24212789 24212633 24212634 24212634 downstr_intron 16 1.551724 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCAGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 191 396 1 1 1 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02347484 0.01520361 0.9597698 0.9806608 NA 0.01933922 NA FALSE NA 0 -1.155 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA CCG C,T 1.647e-05 2:24212634 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 intron_variant 0.18751 0.18518 0.01751 0.156188 0.7145858 0.0634511 0.02443369 FALSE 5.70346e-05 ENSE00001665782_004 ENSE00001665782 004 2 24435489 24435658 - 30 99 41 C G 24435520 293 139 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAACTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212650 24212651 24212651 exon -2 0.989899 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAACTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 178 225 0.9933411 1 0.9966706 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.01681596 0.01520361 0.9597698 0.9806608 NA 0.01600979 NA FALSE NA 1 3.014 rs146765583 upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 rs146765583 1 G:0.0022 G:0.0083 G:0 NA G:0 G:0 G:0 G:0.0064 G:0.0001 ACT C,G 0.0007083 2:24212651 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 missense_variant 4.812069 0.98034 0.97026 0.562547 0.9858253 0 0.02443369 FALSE 0.00057661 ENSE00001665782_005 ENSE00001665782 005 2 24435489 24435658 - 30 99 41 G A 24435536 294 123 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACTCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212666 24212667 24212667 exon -18 0.8282828 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACTCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 17 26 0.95 1 0.975 0.9344554 0.9850842 0.9765252 0.9847964 NA NA -0.02652516 0.01520361 0.9597698 0.9806608 NA -0.005660775 NA FALSE NA 1 9.344 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA GGG G,A 8.236e-06 2:24212667 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 missense_variant 4.060518 0.99245 0.99696 0.706548 0.996551 0 0.02443369 FALSE 8.18605e-06 ENSE00001665782_006 ENSE00001665782 006 2 24435489 24435658 - 30 99 41 G A 24435542 295 117 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCTGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212672 24212673 24212673 exon -24 0.7676768 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCTGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 123 34 1 0.9953197 0.9976598 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02347484 0.01052329 0.9597698 0.9806608 NA 0.01699906 NA FALSE NA 1 6.155 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA CGG G,A 4.118e-05 2:24212673 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 missense_variant 6.595399 0.99245 0.99237 0.706548 0.9982195 0 0.02443369 FALSE 3.26739e-05 ENSE00001665782_007 ENSE00001665782 007 2 24435489 24435658 - 30 99 41 G A 24435544 296 115 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCATCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212674 24212675 24212675 exon -26 0.7474747 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCATCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 14 60 1 1 1 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02347484 0.01520361 0.9597698 0.9806608 NA 0.01933922 NA FALSE NA 1 9.323 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 rs201987810 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGT G,A 8.236e-06 2:24212675 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 missense_variant 5.236515 0.99245 0.9915 0.706548 0.9976587 0 0.02443369 FALSE 4.08313e-06 ENSE00001665782_008 ENSE00001665782 008 2 24435489 24435658 - 30 99 41 G A 24435558 297 101 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCTATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212688 24212689 24212689 exon -40 0.6060606 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCTATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 24 819 1 0.9988769 0.9994385 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02347484 0.01408053 0.9597698 0.9806608 NA 0.01877769 NA FALSE NA 1 0.544 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA TGG G,A 8.236e-06 2:24212689 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 synonymous_variant 1.565018 0.97319 0.85299 0.706548 0.7722442 0 0.02443369 FALSE NA ENSE00001665782_009 ENSE00001665782 009 2 24435489 24435658 - 30 99 41 G T 24435559 298 100 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACACATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212689 24212690 24212690 exon -41 0.5959596 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACACATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 18 92 0.861624 0.8805584 0.8710912 0.9344554 0.9850842 0.9765252 0.9847964 NA NA -0.1149011 -0.104238 0.9597698 0.9806608 NA -0.1095696 NA FALSE NA 1 9.296 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA GGG G,T 8.236e-06 2:24212690 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 missense_variant 4.914504 0.99264 0.99267 0.706548 0.9924631 0 0.02443369 FALSE 8.14578e-06 ENSE00001665782_012 ENSE00001665782 012 2 24435489 24435658 - 30 99 41 G A 24435581 301 78 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCTTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212711 24212712 24212712 exon 37 0.3737374 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCTTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 424 13 0.9996384 1 0.9998192 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02311323 0.01520361 0.9597698 0.9806608 NA 0.01915842 NA FALSE NA 1 5.149 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 rs184065623 1 NA AGG G,A 8.236e-06 2:24212712 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 missense_variant 4.861119 0.98712 0.96641 0.706548 0.9969645 0 0.02443369 FALSE 4.06547e-06 ENSE00001665782_013 ENSE00001665782 013 2 24435489 24435658 - 30 99 41 C A 24435597 302 62 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGTTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212727 24212728 24212728 exon 21 0.2121212 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGTTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 23 46 1 1 1 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02347484 0.01520361 0.9597698 0.9806608 NA 0.01933922 NA FALSE NA 0 -7.306 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 COSM720811 1 NA ACC C,A 8.236e-06 2:24212728 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 synonymous_variant 2.171987 0.08502 0.02882 0.706548 0.8766102 0 0.02443369 FALSE 4.06131e-06 ENSE00001665782_014 ENSE00001665782 014 2 24435489 24435658 - 30 99 41 C T 24435598 303 61 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCAGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212728 24212729 24212729 exon 20 0.2020202 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCAGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 112 34 0.95 0.9953933 0.9726966 0.9344554 0.9850842 0.9765252 0.9847964 NA NA -0.02652516 0.0105969 0.9597698 0.9806608 NA -0.00796413 NA FALSE NA 1 7.379 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA CCG C,T 1.647e-05 2:24212729 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 missense_variant 6.543754 0.99221 0.99488 0.706548 0.9988229 0 0.02443369 FALSE 1.21837e-05 ENSE00001665782_017 ENSE00001665782 017 2 24435489 24435658 - 30 99 41 C T 24435611 306 48 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGACATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212741 24212742 24212742 exon 7 0.07070707 GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGACATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 54 289 1 0.996352 0.998176 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02347484 0.01155565 0.9597698 0.9806608 NA 0.01751525 NA FALSE NA 1 7.379 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA GCC C,T 8.236e-06 2:24212742 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 missense_variant 4.762766 0.99225 0.99488 0.706548 0.9962396 0 0.02443369 FALSE 4.06124e-06 ENSE00001665782_021 ENSE00001665782 021 2 24435489 24435658 - 30 99 41 A G 24435646 310 13 GGAGCTGTGATTCCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 24212776 24212777 24212777 upstr_intron -29 -0.6829268 GGAGCTGTGATTCCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG mutant NA NA NA NA NA 423 71 1 0.9950253 0.9975126 0.9344554 0.9850842 0.9765252 0.9847964 NA NA 0.02347484 0.0102289 0.9597698 0.9806608 NA 0.01685187 NA FALSE NA 0.002 0.619 . upstream_gene_variant MODIFIER ITSN2 HGNC 6184 ENST00000427234 1 NA GAA A,G 8.236e-06 2:24212777 ITSN2 HGNC Symbol protein_coding 157850 ENSG00000198399 ENSE00001665782 intron_variant 0.452734 0.3163 0.11636 0.062308 0.7296684 0.187955 0.02443369 FALSE 4.06712e-06 ENSE00001665782_BRK ENSE00001665782 BRK 2 24435489 24435658 - 30 99 41 A,G; T,T NA NA NA GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCTTAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTCCGAGTGTGCAGGCCGGGCAGTGGGGTCTG 24212619 24212789 NA NA NA NA NA NA GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCTTAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTCCGAGTGTGCAGGCCGGGCAGTGGGGTCTG GGAGCTGTGATTTCCTCACGAGCCTCACTGTTGTTTTGCAGAAGCTGGCATCTGACCCGCGGTGTAAAGGAATGCCCCTCTCCAGCTTCCTGCTGAAACCCATGCAGAGGATCACCCGCTACCCACTGCTCATCAGAAGTGTGAGTGTGCAGGCCGGGCAGTGGGGTCTG control 702 469 0.1463195 0.1276279 0.1369737 47 14 0 0 0 0.9344554 0.9850842 0.9765252 0.9847964 -0.7881359 -0.8574563 -0.9765252 -0.9847964 0.9597698 0.9806608 -0.8227961 -0.9806608 0.1578647 TRUE TRUE NA NA NA NA NA ITSN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITSN2 NA NA NA ENSG00000198399 ENSE00001665782 NA NA NA NA NA NA NA 0.02443369 FALSE NA ENSE00001665823_000 ENSE00001665823 000 16 16375048 16375217 + 48 84 38 NA NA NA NA NA TACGACAAGCCCCCTTTCTAGAGAACTGACTCCTGAGTTTTTTTGCAGCCGGGATGTGTGTACCACGTTCAGCTCAAGGCAGAAGGCAACGACCACATTGAGCGGGCGCTCCCCCACCATAGGGTGATTGAGGTAAGGCATTCAGTGCTGCCGCTGCACCTGGGTGTGGG 16281190 16281360 NA NA NA NA NA NA TACGACAAGCCCCCTTTCTAGAGAACTGACTCCTGAGTTTTTTTGCAGCCGGGATGTGTGTACCACGTTCAGCTCAAGGCAGAAGGCAACGACCACATTGAGCGGGCGCTCCCCCACCATAGGGTGATTGAGGTAAGGCATTCAGTGCTGCCGCTGCACCTGGGTGTGGG TACGACAAGCCCCCTTTCTAGAGAACTGACTCCTGAGTTTTTTTGCAGCCGGGATGTGTGTACCACGTTCAGCTCAAGGCAGAAGGCAACGACCACATTGAGCGGGCGCTCCCCCACCATAGGGTGATTGAGGTAAGGCATTCAGTGCTGCCGCTGCACCTGGGTGTGGG natural 42 62 0.915274 0.8765994 0.8959367 2168 1491 0.9806483 0.9822541 0.9814512 0.915274 0.8765994 0.9806483 0.9822541 0 0 0 0 0.8959367 0.9814512 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003647358 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001665910_000 ENSE00001665910 000 11 11941661 11941830 + 42 96 32 NA NA NA NA NA TTCCTAAGTATTAATCTCTACATGGCATTTACCTTCCGTGCATCACACTTCTTCTTACAACGTTCACAAAAATACTGATTTGGGCCATCCAGAATCTCTGGCTGAATAAATGCATGCAATGCTTCTTCCTAGTTAGAAAAAAATTTGTTTTATAATTACTTAAAATATTA 11920113 11920283 NA NA NA NA NA NA TAATATTTTAAGTAATTATAAAACAAATTTTTTTCTAACTAGGAAGAAGCATTGCATGCATTTATTCAGCCAGAGATTCTGGATGGCCCAAATCAGTATTTTTGTGAACGTTGTAAGAAGAAGTGTGATGCACGGAAGGTAAATGCCATGTAGAGATTAATACTTAGGAA TAATATTTTAAGTAATTATAAAACAAATTTTTTTCTAACTAGGAAGAAGCATTGCATGCATTTATTCAGCCAGAGATTCTGGATGGCCCAAATCAGTATTTTTGTGAACGTTGTAAGAAGAAGTGTGATGCACGGAAGGTAAATGCCATGTAGAGATTAATACTTAGGAA natural 16 67 0.85 0.85 0.85 1029 483 0.8331498 0.9298289 0.8814893 0.85 0.85 0.8331498 0.9298289 0 0 0 0 0.85 0.8814893 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003544901 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001666005_000 ENSE00001666005 000 10 28436373 28436542 - 39 81 50 NA NA NA NA NA TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 NA NA NA NA NA NA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA natural 43 35 0.9841208 0.9943469 0.9892338 3267 2513 0.9853939 0.9986079 0.9920009 0.9841208 0.9943469 0.9853939 0.9986079 0 0 0 0 0.9892338 0.9920009 0 0 0 FALSE FALSE NA NA NA NA NA MPP7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPP7 NA NA NA ENSG00000150054 ENSE00003470343 NA NA NA NA NA NA NA 8.579717e-07 FALSE NA ENSE00001666005_001 ENSE00001666005 001 10 28436373 28436542 - 39 81 50 C T 28436393 693 150 TGTTTGAAGGTATTTATTACTGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147463 28147464 28147464 downstr_intron 19 1.5 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCAGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 193 592 0.996757 0.9851455 0.9909512 0.9841208 0.9943469 0.9853939 0.9986079 NA NA 0.0113631 -0.01346246 0.9892338 0.9920009 NA -0.001049679 NA FALSE NA 0.138 0.652 . intron_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 4/15 1 NA CCG C,T 1.647e-05 10:28147464 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 intron_variant -0.447692 0.23966 0.06524 0.053691 0.524759 0.150185 8.579717e-07 FALSE 3.25698e-05 ENSE00001666005_002 ENSE00001666005 002 10 28436373 28436542 - 39 81 50 G A 28436394 694 149 TGTTTGAAGGTATTTATTACCAGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147464 28147465 28147465 downstr_intron 18 1.473684 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCTGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 35 100 0.8073936 1 0.9036968 0.9841208 0.9943469 0.9853939 0.9986079 NA NA -0.1780003 0.001392081 0.9892338 0.9920009 NA -0.08830408 NA FALSE NA 0.195 1.577 . intron_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 4/15 rs370641042 1 NA A:0.0002 A:0.0008 CGG G,A 0.0003624 10:28147465 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 intron_variant -0.361857 0.31086 0.29522 0.053691 0.4597445 0.150185 8.579717e-07 FALSE 0.000354085 ENSE00001666005_006 ENSE00001666005 006 10 28436373 28436542 - 39 81 50 T G 28436420 698 123 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATGGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147490 28147491 28147491 exon -9 0.9012346 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCCATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 510 875 1 0.9994764 0.9997382 0.9841208 0.9943469 0.9853939 0.9986079 NA NA 0.01460614 0.0008684464 0.9892338 0.9920009 NA 0.007737292 NA FALSE NA 1 3.563 . 5_prime_UTR_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 4/16 1 NA TTG T,G 0.00014 10:28147491 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 missense_variant 0.711157 0.99098 0.96774 0.638212 0.1649336 0 8.579717e-07 FALSE 0.000142285 ENSE00001666005_007 ENSE00001666005 007 10 28436373 28436542 - 39 81 50 G C 28436428 699 115 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTCACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147498 28147499 28147499 exon -17 0.8024691 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTGAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant 10 18 0.9991048 0.9945226 0.9968137 NA NA NA NA NA 0.9841208 0.9943469 0.9853939 0.9986079 0.01498401 0.000175691 NA NA 0.9892338 0.9920009 0.007579852 NA NA NA FALSE 1 7.039 . 5_prime_UTR_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 4/16 1 NA TGA G,C 8.236e-06 10:28147499 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 stop_gained 13.78941 0.99316 0.99073 0.638212 0.9942746 0 8.579717e-07 FALSE 8.13054e-06 ENSE00001666005_009 ENSE00001666005 009 10 28436373 28436542 - 39 81 50 G A 28436451 701 92 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTAATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147521 28147522 28147522 exon -40 0.5185185 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATTAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant 69 94 0.85 0.85 0.85 108 19 0.801491 0.8 0.8007455 0.9841208 0.9943469 0.9853939 0.9986079 -0.1341208 -0.1443469 -0.1839029 -0.1986079 0.9892338 0.9920009 -0.1392338 -0.1912554 0.05202156 FALSE FALSE 1 4.195 . 5_prime_UTR_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 4/16 1 NA TGA G,A 8.236e-06 10:28147522 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 synonymous_variant 1.376775 0.99258 0.97535 0.638212 0.8140761 0 8.579717e-07 FALSE 8.13008e-06 ENSE00001666005_010 ENSE00001666005 010 10 28436373 28436542 - 39 81 50 C A 28436454 702 89 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATATCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147524 28147525 28147525 exon 39 0.4814815 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGATATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 110 101 0.9527607 1 0.9763804 0.9841208 0.9943469 0.9853939 0.9986079 NA NA -0.03263313 0.001392081 0.9892338 0.9920009 NA -0.01562052 NA FALSE NA 1 1.703 . 5_prime_UTR_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 4/16 1 NA TCT C,A 1.647e-05 10:28147525 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 missense_variant 2.011675 0.97817 0.95759 0.638212 0.9829151 0 8.579717e-07 FALSE 2.03249e-05 ENSE00001666005_011 ENSE00001666005 011 10 28436373 28436542 - 39 81 50 T C 28436466 703 77 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAACGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147536 28147537 28147537 exon 27 0.3333333 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCGTTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 929 621 0.9956082 1 0.9978041 0.9841208 0.9943469 0.9853939 0.9986079 NA NA 0.01021433 0.001392081 0.9892338 0.9920009 NA 0.005803207 NA FALSE NA 0.035 -0.172 . 5_prime_UTR_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 4/16 1 NA ATG T,C 8.236e-06 10:28147537 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 synonymous_variant 0.479663 0.26344 0.06676 0.638212 0.6509839 0 8.579717e-07 FALSE NA ENSE00001666005_012 ENSE00001666005 012 10 28436373 28436542 - 39 81 50 C T 28436486 704 57 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTTGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147556 28147557 28147557 exon 7 0.08641975 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCAAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 13 35 0.95 0.8867122 0.9183561 0.9841208 0.9943469 0.9853939 0.9986079 NA NA -0.03539386 -0.1118957 0.9892338 0.9920009 NA -0.07364478 NA FALSE NA 1 5.538 rs142463330 5_prime_UTR_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 4/16 rs142463330 1 NA G:0 G:0.0001 TCG C,T 7.413e-05 10:28147557 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 missense_variant 4.591214 0.9918 0.97389 0.638212 0.9990254 0 8.579717e-07 FALSE 4.06716e-05 ENSE00001666005_015 ENSE00001666005 015 10 28436373 28436542 - 39 81 50 C T 28436499 707 44 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAATGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147569 28147570 28147570 upstr_intron -7 -0.12 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCATTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 1407 583 0.9957719 0.9963395 0.9960557 0.9841208 0.9943469 0.9853939 0.9986079 NA NA 0.01037802 -0.002268456 0.9892338 0.9920009 NA 0.004054784 NA FALSE NA 1 1.695 NA NA NA MPP7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:28147570 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 splice_region_variant 1.712404 0.61142 0.47184 0.053691 0.687303 0.423465 8.579717e-07 FALSE 2.03455e-05 ENSE00001666005_017 ENSE00001666005 017 10 28436373 28436542 - 39 81 50 G A 28436500 709 43 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACAGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147570 28147571 28147571 upstr_intron -8 -0.14 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCTGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 90 775 0.9843094 1 0.9921547 0.9841208 0.9943469 0.9853939 0.9986079 NA NA -0.001084479 0.001392081 0.9892338 0.9920009 NA 0.0001538011 NA FALSE NA 1 1.079 rs41307549 splice_region_variant&intron_variant LOW MPP7 HGNC 26542 ENST00000445954 3/15 rs41307549 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.001 CGG G,A 0.0004365 10:28147571 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 splice_region_variant 1.641241 0.64246 0.67736 0.053691 0.6804799 0.415148 8.579717e-07 FALSE 0.000451745 ENSE00001666005_020 ENSE00001666005 020 10 28436373 28436542 - 39 81 50 G T 28436503 712 40 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGATATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 28147573 28147574 28147574 upstr_intron -11 -0.2 CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATATCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant 60 93 0.85 0.85 0.85 NA NA NA NA NA 0.9841208 0.9943469 0.9853939 0.9986079 -0.1341208 -0.1443469 NA NA 0.9892338 0.9920009 -0.1392338 NA NA NA FALSE 1 3.293 . intron_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 3/15 1 NA AGA G,T 8.236e-06 10:28147574 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 intron_variant 2.107944 0.99206 0.95919 0.053691 0.8038761 0.986174 8.579717e-07 FALSE 4.07024e-06 ENSE00001666005_021 ENSE00001666005 021 10 28436373 28436542 - 39 81 50 A C 28436528 713 15 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTCGTAAGAGCATTGTG 28147443 28147613 28147598 28147599 28147599 upstr_intron -36 -0.7 CACAATGCTCTTACGAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 17 1426 0.7857862 0.8935979 0.8396921 0.9841208 0.9943469 0.9853939 0.9986079 NA NA -0.1996077 -0.10501 0.9892338 0.9920009 NA -0.1523088 NA FALSE NA 0.933 2.235 . intron_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 3/15 rs368513026 1 NA C:0 C:0.0002 TAG A,C 4.942e-05 10:28147599 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 intron_variant 0.238651 0.75227 0.73829 0.053691 0.5541594 0.149495 8.579717e-07 FALSE 4.8968e-05 ENSE00001666005_022 ENSE00001666005 022 10 28436373 28436542 - 39 81 50 A C 28436531 714 12 TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCACCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGCTGCAACGGAGATTACATTGACTTAAAGAACATTTAGTCAGAGCATTGTG 28147443 28147613 28147601 28147602 28147602 upstr_intron -39 -0.76 CACAATGCTCTGACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA mutant NA NA NA NA NA 221 484 1 1 1 0.9841208 0.9943469 0.9853939 0.9986079 NA NA 0.01460614 0.001392081 0.9892338 0.9920009 NA 0.007999109 NA FALSE NA 0.001 -0.728 . intron_variant MODIFIER MPP7 HGNC 26542 ENST00000445954 3/15 1 NA TAA A,C 8.237e-06 10:28147602 MPP7 HGNC Symbol protein_coding 283493 ENSG00000150054 ENSE00003470343 intron_variant 0.06826 0.37964 0.07303 0.053691 0.5170881 0.214436 8.579717e-07 FALSE 4.0821e-06 ENSE00001666005_BRK ENSE00001666005 BRK 10 28436373 28436542 - 39 81 50 A,G; T,T NA NA NA TGTTTGAAGGTATTTATTACCGGCGTAACATGTCCTCGGCTTCACATTGGGTTTTGACAGTAGTTTCAACAGCTCTCTGATCTCACTGTTTAATGGCTTGTTCTGAAGCTCTTCGGCCAGAAGCAACGGAGATTACATTGACTTAAAGAACATTTAGTAAGAGCATTGTG 28147443 28147613 NA NA NA NA NA NA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCTTCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGCCGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA CACAATGCTCTTACTAAATGTTCTTTAAGTCAATGTAATCTCCGTTGCAGCTGGCCGAAGAGCTTCAGAACAAGCCATTAAACAGTGAGATCAGAGAGCTGTTGAAACTACTGTCAAAACCCAATGTGAAGGTGAGGACATGTTACGCCGGTAATAAATACCTTCAAACA control 102 265 0 0 0 52 846 0 0.0005977105 0.0002988552 0.9841208 0.9943469 0.9853939 0.9986079 -0.9841208 -0.9943469 -0.9853939 -0.9980102 0.9892338 0.9920009 -0.9892338 -0.991702 0.002468193 TRUE TRUE NA NA NA NA NA MPP7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPP7 NA NA NA ENSG00000150054 ENSE00003470343 NA NA NA NA NA NA NA 8.579717e-07 FALSE NA ENSE00001666264_000 ENSE00001666264 000 16 24873868 24874037 + 54 72 44 NA NA NA NA NA ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 NA NA NA NA NA NA ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT natural NA NA NA NA NA 4210 3670 0.9512445 0.8263687 0.8888066 NA NA 0.9512445 0.8263687 NA NA 0 0 NA 0.8888066 NA 0 NA FALSE NA NA NA NA NA NA SLC5A11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A11 NA NA NA ENSG00000158865 ENSE00003559653 NA NA NA NA NA NA NA 1.496412e-06 FALSE NA ENSE00001666264_002 ENSE00001666264 002 16 24873868 24874037 + 54 72 44 C T 24873885 1418 18 ATGCCTCTGATTGCTAATGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862563 24862564 24862564 upstr_intron -37 -0.6666667 ATGCCTCTGATTGCTAATGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 989 369 0.9972635 1 0.9986317 NA NA 0.9512445 0.8263687 NA NA 0.04601898 0.1736313 NA 0.8888066 NA 0.1098252 NA FALSE NA 0 -0.279 . intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 1/14 1 NA ACG C,T 8.236e-06 16:24862564 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant -0.231995 0.12394 0.01651 0.053691 0.5580801 0.107772 1.496412e-06 FALSE NA ENSE00001666264_004 ENSE00001666264 004 16 24873868 24874037 + 54 72 44 A T 24873896 1420 29 ATGCCTCTGATTGCTAACGTCTTCCCTCTCCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862574 24862575 24862575 upstr_intron -26 -0.462963 ATGCCTCTGATTGCTAACGTCTTCCCTCTCCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 849 509 0.9976992 1 0.9988496 NA NA 0.9512445 0.8263687 NA NA 0.04645474 0.1736313 NA 0.8888066 NA 0.110043 NA FALSE NA 0 -0.541 . intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 1/14 1 NA CAC A,T 8.237e-06 16:24862575 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant -0.029952 0.1954 0.00911 0.053691 0.6375208 0.107772 1.496412e-06 FALSE NA ENSE00001666264_005 ENSE00001666264 005 16 24873868 24874037 + 54 72 44 C T 24873902 1421 35 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACTTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862580 24862581 24862581 upstr_intron -20 -0.3518519 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACTTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant 19 31 0.9260399 0.9507589 0.9383994 NA NA NA NA NA NA NA 0.9512445 0.8263687 NA NA NA NA NA 0.8888066 NA NA NA NA NA 0 -0.037 . intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 1/14 1 NA CCT C,T 8.239e-06 16:24862581 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant 0.09715 0.15309 0.0057 0.053691 0.4858996 0.140237 1.496412e-06 FALSE 1.23756e-05 ENSE00001666264_006 ENSE00001666264 006 16 24873868 24874037 + 54 72 44 T C 24873910 1422 43 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCCTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862588 24862589 24862589 upstr_intron -12 -0.2037037 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCCTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 108 692 0.9378646 0.9969154 0.96739 NA NA 0.9512445 0.8263687 NA NA -0.01337986 0.1705467 NA 0.8888066 NA 0.07858344 NA FALSE NA 0.766 -0.301 rs192418816 intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 1/14 rs192418816&~rs140369052 1 NA -:0.0279 -:0.0244 CTT T,C 0.0001016 16:24862589 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant -0.23183 0.15896 0.08242 0.053691 0.6230153 0.201693 1.496412e-06 FALSE NA ENSE00001666264_008 ENSE00001666264 008 16 24873868 24874037 + 54 72 44 T A 24873916 1424 49 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTATTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862594 24862595 24862595 upstr_intron -6 -0.09259259 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTATTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant 26 14 0.85 0.85 0.85 2849 1804 0.9315331 0.7635331 0.8475331 NA NA 0.9512445 0.8263687 NA NA -0.01971141 -0.06283562 NA 0.8888066 NA -0.04127352 NA FALSE NA 0.771 1.681 . splice_region_variant&intron_variant LOW SLC5A11 HGNC 23091 ENST00000539472 1/14 1 NA TTT T,A 2.471e-05 16:24862595 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 splice_region_variant 0.225561 0.84131 0.36556 0.053691 0.6504905 0.786188 1.496412e-06 FALSE 4.47336e-05 ENSE00001666264_011 ENSE00001666264 011 16 24873868 24874037 + 54 72 44 A C 24873927 1427 60 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACCGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862605 24862606 24862606 exon 6 0.08333333 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACCGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 394 834 0.8080987 1 0.9040494 NA NA 0.9512445 0.8263687 NA NA -0.1431458 0.1736313 NA 0.8888066 NA 0.01524279 NA FALSE NA 0.989 0.07 NA NA NA SLC5A11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:24862606 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 synonymous_variant -1.101619 0.96892 0.64739 0.487112 0.6698163 0 1.496412e-06 FALSE 4.06428e-06 ENSE00001666264_012 ENSE00001666264 012 16 24873868 24874037 + 54 72 44 T C 24873929 1428 62 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGCGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862607 24862608 24862608 exon 8 0.1111111 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGCGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 2492 1151 0.9972754 0.9949002 0.9960878 NA NA 0.9512445 0.8263687 NA NA 0.04603089 0.1685315 NA 0.8888066 NA 0.1072812 NA FALSE NA 1 3.203 . 5_prime_UTR_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 2/15 1 NA GTG T,C 1.647e-05 16:24862608 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 missense_variant 1.504605 0.97851 0.82442 0.487112 0.954078 0 1.496412e-06 FALSE 8.12414e-06 ENSE00001666264_013 ENSE00001666264 013 16 24873868 24874037 + 54 72 44 A G 24873940 1429 73 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAGGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862618 24862619 24862619 exon 19 0.2638889 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAGGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 230 108 0.9822072 0.8167297 0.8994685 NA NA 0.9512445 0.8263687 NA NA 0.03096274 -0.009638965 NA 0.8888066 NA 0.01066189 NA FALSE NA 1 2.174 . 5_prime_UTR_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 2/15 1 NA AAG A,G 8.236e-06 16:24862619 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 missense_variant 5.441835 0.98174 0.84554 0.487112 0.9969294 0 1.496412e-06 FALSE NA ENSE00001666264_015 ENSE00001666264 015 16 24873868 24874037 + 54 72 44 G A 24873975 1431 108 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGAGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862653 24862654 24862654 exon -19 0.75 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGAGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 586 340 0.9985158 0.9315147 0.9650152 NA NA 0.9512445 0.8263687 NA NA 0.04727133 0.105146 NA 0.8888066 NA 0.07620866 NA FALSE NA 0.996 0.262 . 5_prime_UTR_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 2/15 1 NA GGG G,A 2.471e-05 16:24862654 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 synonymous_variant -0.656921 0.94988 0.66705 0.487112 0.4976619 0 1.496412e-06 FALSE 1.21841e-05 ENSE00001666264_016 ENSE00001666264 016 16 24873868 24874037 + 54 72 44 A G 24873979 1432 112 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACGTGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862657 24862658 24862658 exon -15 0.8055556 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACGTGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 746 1705 0.9950309 0.9918061 0.9934185 NA NA 0.9512445 0.8263687 NA NA 0.04378641 0.1654374 NA 0.8888066 NA 0.1046119 NA FALSE NA 1 6.565 . start_lost LOW SLC5A11 HGNC 23091 ENST00000539472 2/15 rs544345215 1 deleterious(0.02) benign(0.077) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAT A,G 4.118e-05 16:24862658 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 start_lost 0.655974 0.98724 0.9709 0.487112 0.9365739 0 1.496412e-06 FALSE 4.87353e-05 ENSE00001666264_018 ENSE00001666264 018 16 24873868 24874037 + 54 72 44 C T 24873992 1434 125 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCTAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862670 24862671 24862671 exon -2 0.9861111 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCTAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 457 176 1 0.9918158 0.9959079 NA NA 0.9512445 0.8263687 NA NA 0.04875552 0.1654471 NA 0.8888066 NA 0.1071013 NA FALSE NA 1 7.001 . missense_variant&splice_region_variant MODERATE SLC5A11 HGNC 23091 ENST00000539472 2/15 1 deleterious(0.01) probably_damaging(0.996) NA CCA C,T 8.236e-05 16:24862671 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 missense_variant 6.596596 0.9948 0.98 0.487112 0.9979403 0 1.496412e-06 FALSE 8.93655e-05 ENSE00001666264_019 ENSE00001666264 019 16 24873868 24874037 + 54 72 44 A G 24874013 1435 146 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAGTTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862691 24862692 24862692 downstr_intron 20 1.465116 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAGTTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 25 203 1 0.9725495 0.9862748 NA NA 0.9512445 0.8263687 NA NA 0.04875552 0.1461809 NA 0.8888066 NA 0.0974682 NA FALSE NA 0 -1.501 . intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 2/14 rs200363281 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAT A,G 8.236e-05 16:24862692 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant 1.289546 0.1187 0.02933 0.053691 0.8048117 0.311476 1.496412e-06 FALSE 0.000121918 ENSE00001666264_020 ENSE00001666264 020 16 24873868 24874037 + 54 72 44 T C 24874014 1436 147 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAACTAAAGTCACTTCTTAAAGAATCT 24862546 24862716 24862692 24862693 24862693 downstr_intron 21 1.488372 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAACTAAAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 26 530 0.8641358 0.9953441 0.9297399 NA NA 0.9512445 0.8263687 NA NA -0.08710868 0.1689754 NA 0.8888066 NA 0.04093337 NA FALSE NA 0 -0.004 . intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 2/14 rs202027469 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0 C:0.0001 ATT T,C 1.647e-05 16:24862693 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant 1.425988 0.14699 0.03394 0.053691 0.8722721 0.311476 1.496412e-06 FALSE 1.62565e-05 ENSE00001666264_022 ENSE00001666264 022 16 24873868 24874037 + 54 72 44 A G 24874017 1438 150 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAGAGTCACTTCTTAAAGAATCT 24862546 24862716 24862695 24862696 24862696 downstr_intron 24 1.55814 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAGAGTCACTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 748 63 0.9978343 0.9690716 0.983453 NA NA 0.9512445 0.8263687 NA NA 0.04658985 0.142703 NA 0.8888066 NA 0.09464641 NA FALSE NA 0 0.35 . intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 2/14 1 NA AAA A,G 8.236e-06 16:24862696 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant 1.617689 0.19889 0.05033 0.053691 0.9027911 0.311476 1.496412e-06 FALSE 8.13021e-06 ENSE00001666264_023 ENSE00001666264 023 16 24873868 24874037 + 54 72 44 C G 24874023 1439 156 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCAGTTCTTAAAGAATCT 24862546 24862716 24862701 24862702 24862702 downstr_intron 30 1.697674 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCAGTTCTTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 216 383 0.9256429 1 0.9628215 NA NA 0.9512445 0.8263687 NA NA -0.02560156 0.1736313 NA 0.8888066 NA 0.07401488 NA FALSE NA 0.283 0.191 . intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 2/14 1 NA ACT C,G 1.647e-05 16:24862702 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant 1.386328 0.16378 0.02892 0.053691 0.8021896 0.277827 1.496412e-06 FALSE 2.43982e-05 ENSE00001666264_024 ENSE00001666264 024 16 24873868 24874037 + 54 72 44 T G 24874027 1440 160 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCGTAAAGAATCT 24862546 24862716 24862705 24862706 24862706 downstr_intron 34 1.790698 ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCGTAAAGAATCT ATGCCTCTGATTGCTAACGTCTTCCCTCACCCACCTCTCTTCTTTTTTTTTCAGTCCACAGTGAAGACCAAAAGAGACACAGTGAAAGGCTACTTCCTGGCTGGAGGGGACATGGTGTGGTGGCCAGTAAGTGGTCTTTGGTTCAATTAAAGTCACTTCTTAAAGAATCT mutant NA NA NA NA NA 517 64 0.9991211 0.9268199 0.9629705 NA NA 0.9512445 0.8263687 NA NA 0.04787661 0.1004512 NA 0.8888066 NA 0.07416392 NA FALSE NA 0.17 0.125 . intron_variant MODIFIER SLC5A11 HGNC 23091 ENST00000539472 2/14 1 NA CTT T,G 8.236e-06 16:24862706 SLC5A11 HGNC Symbol protein_coding 65787 ENSG00000158865 ENSE00003559653 intron_variant 1.729689 0.78529 0.09082 0.053691 0.8915955 0.381348 1.496412e-06 FALSE 4.06868e-06 ENSE00001666348_000 ENSE00001666348 000 9 117126790 117126959 - 50 60 60 NA NA NA NA NA GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 NA NA NA NA NA NA GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC natural 55 154 0.9388121 0.9378336 0.9383228 2431 739 0.9740535 0.9772438 0.9756487 0.9388121 0.9378336 0.9740535 0.9772438 0 0 0 0 0.9383228 0.9756487 0 0 0 FALSE FALSE NA NA NA NA NA AKNA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AKNA NA NA NA ENSG00000106948 ENSE00001666348 NA NA NA NA NA NA NA 0.02852574 FALSE NA ENSE00001666348_005 ENSE00001666348 005 9 117126790 117126959 - 50 60 60 G T 117126855 2047 105 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGTGGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364574 114364575 114364575 exon -16 0.75 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCACAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 37 69 1 1 1 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.02594648 0.02275618 0.9383228 0.9756487 NA 0.02435133 NA FALSE NA 0.626 -0.179 . synonymous_variant LOW AKNA HGNC 24108 ENST00000307564 7/22 1 NA GGG G,T 8.236e-06 9:114364575 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 synonymous_variant -0.55955 0.56948 0.42322 0.730579 0.6477581 0 0.02852574 FALSE 4.06058e-06 ENSE00001666348_006 ENSE00001666348 006 9 117126790 117126959 - 50 60 60 G C 117126856 2048 104 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGCGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364575 114364576 114364576 exon -17 0.7333333 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCGCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 583 201 1 1 1 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.02594648 0.02275618 0.9383228 0.9756487 NA 0.02435133 NA FALSE NA 0.876 4.839 . missense_variant MODERATE AKNA HGNC 24108 ENST00000307564 7/22 1 deleterious(0.03) benign(0.059) NA GGG G,C 2.471e-05 9:114364576 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 missense_variant 0.708924 0.69018 0.86531 0.730579 0.9952025 0 0.02852574 FALSE 8.1211e-06 ENSE00001666348_007 ENSE00001666348 007 9 117126790 117126959 - 50 60 60 T C 117126860 2049 100 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCACGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364579 114364580 114364580 exon -21 0.6666667 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCGTGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 40 470 0.9761789 0.9956001 0.9858895 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.002125409 0.01835631 0.9383228 0.9756487 NA 0.01024086 NA FALSE NA 0.007 0.357 . missense_variant MODERATE AKNA HGNC 24108 ENST00000307564 7/22 rs574380903 1 tolerated(0.11) benign(0.003) NA ATG T,C 8.236e-06 9:114364580 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 missense_variant -1.990029 0.20214 0.08988 0.730579 0.6566949 0 0.02852574 FALSE NA ENSE00001666348_008 ENSE00001666348 008 9 117126790 117126959 - 50 60 60 C T 117126865 2050 95 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGATGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364584 114364585 114364585 exon -26 0.5833333 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACATCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 1954 156 0.7989084 0.7964482 0.7976783 0.9388121 0.9378336 0.9740535 0.9772438 NA NA -0.1751451 -0.1807956 0.9383228 0.9756487 NA -0.1779704 NA FALSE NA 0 -1.349 . missense_variant MODERATE AKNA HGNC 24108 ENST00000307564 7/22 1 tolerated(0.31) benign(0.091) NA ACG C,T 8.236e-06 9:114364585 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 missense_variant 0.400083 0.16335 0.02616 0.730579 0.9616182 0 0.02852574 FALSE 1.21817e-05 ENSE00001666348_009 ENSE00001666348 009 9 117126790 117126959 - 50 60 60 G T 117126866 2051 94 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACTTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364585 114364586 114364586 exon -27 0.5666667 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGAAGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 97 98 0.1838592 0.1867612 0.1853102 0.9388121 0.9378336 0.9740535 0.9772438 NA NA -0.7901943 -0.7904826 0.9383228 0.9756487 NA -0.7903384 NA TRUE NA 0.001 1.04 . missense_variant MODERATE AKNA HGNC 24108 ENST00000307564 7/22 rs199833455 1 tolerated(0.15) benign(0.009) NA CGT G,T 2.471e-05 9:114364586 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 missense_variant 0.322593 0.19703 0.08883 0.730579 0.9022544 0 0.02852574 FALSE 1.21817e-05 ENSE00001666348_010 ENSE00001666348 010 9 117126790 117126959 - 50 60 60 T C 117126870 2052 90 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCCGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364589 114364590 114364590 exon 30 0.5 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCGGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 452 35 1 0.8795033 0.9397516 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.02594648 -0.09774053 0.9383228 0.9756487 NA -0.03589702 NA FALSE NA 0 -2.352 . synonymous_variant LOW AKNA HGNC 24108 ENST00000307564 7/22 rs377034938&COSM2153974 1 NA C:0 C:0.0001 CTG T,C 8.236e-06 9:114364590 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 synonymous_variant -0.735896 0.15505 0.03689 0.730579 0.553528 0 0.02852574 FALSE 4.06055e-06 ENSE00001666348_011 ENSE00001666348 011 9 117126790 117126959 - 50 60 60 T G 117126878 2053 82 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTAGCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364597 114364598 114364598 exon 22 0.3666667 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGCTACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 204 31 0.9933603 0.9948637 0.994112 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.01930679 0.01761985 0.9383228 0.9756487 NA 0.01846332 NA FALSE NA 0.32 0.031 . missense_variant MODERATE AKNA HGNC 24108 ENST00000307564 7/22 rs543391673 1 tolerated(0.19) benign(0.001) NA ATC T,G 8.236e-06 9:114364598 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 missense_variant -0.650128 0.45749 0.31909 0.730579 0.77913 0 0.02852574 FALSE 4.06055e-06 ENSE00001666348_012 ENSE00001666348 012 9 117126790 117126959 - 50 60 60 T C 117126886 2054 74 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTATCAGTCTTCCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364605 114364606 114364606 exon 14 0.2333333 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGGAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 112 125 0.999632 1 0.999816 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.02557846 0.02275618 0.9383228 0.9756487 NA 0.02416732 NA FALSE NA 0.001 0.511 . missense_variant MODERATE AKNA HGNC 24108 ENST00000307564 7/22 1 deleterious(0.05) benign(0.075) NA TTC T,C 1.647e-05 9:114364606 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 missense_variant 1.175811 0.21308 0.08711 0.730579 0.990298 0 0.02852574 FALSE 2.03028e-05 ENSE00001666348_013 ENSE00001666348 013 9 117126790 117126959 - 50 60 60 C T 117126894 2055 66 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGATTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364613 114364614 114364614 exon 6 0.1 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAATCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 155 791 0.9630824 0.978855 0.9709687 0.9388121 0.9378336 0.9740535 0.9772438 NA NA -0.01097114 0.001611167 0.9383228 0.9756487 NA -0.004679989 NA FALSE NA 0.433 -0.466 . synonymous_variant LOW AKNA HGNC 24108 ENST00000307564 7/22 1 NA ACT C,T 8.236e-06 9:114364614 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 synonymous_variant 1.251733 0.75596 0.24879 0.730579 0.6156105 0 0.02852574 FALSE 4.06055e-06 ENSE00001666348_014 ENSE00001666348 014 9 117126790 117126959 - 50 60 60 T G 117126908 2056 52 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATGGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364627 114364628 114364628 upstr_intron -9 -0.1333333 GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCCATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 48 490 1 0.9910163 0.9955081 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.02594648 0.01377245 0.9383228 0.9756487 NA 0.01985947 NA FALSE NA 0 -0.932 rs76732041 intron_variant MODIFIER AKNA HGNC 24108 ENST00000307564 6/21 rs76732041 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TTG T,G 8.236e-06 9:114364628 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 intron_variant -0.044795 0.08651 0.0459 0.101703 0.7307893 0.203076 0.02852574 FALSE 8.12117e-06 ENSE00001666348_015 ENSE00001666348 015 9 117126790 117126959 - 50 60 60 C T 117126928 2057 32 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGTTCCATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364647 114364648 114364648 upstr_intron -29 -0.4666667 GTGTGGGAGTCTACAGGACTGGATTAATGGAACATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 556 214 1 0.9950493 0.9975246 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.02594648 0.01780544 0.9383228 0.9756487 NA 0.02187596 NA FALSE NA 0 0.158 . intron_variant MODIFIER AKNA HGNC 24108 ENST00000307564 6/21 1 NA GCT C,T 1.647e-05 9:114364648 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 intron_variant 0.333655 0.17951 0.13845 0.101703 0.5450984 0.113736 0.02852574 FALSE 1.62429e-05 ENSE00001666348_016 ENSE00001666348 016 9 117126790 117126959 - 50 60 60 C T 117126931 2058 29 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCTATTAATCCAGTCCTGTAGACTCCCACAC 114364509 114364679 114364650 114364651 114364651 upstr_intron -32 -0.5166667 GTGTGGGAGTCTACAGGACTGGATTAATAGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 214 143 0.9442915 0.937521 0.9409062 0.9388121 0.9378336 0.9740535 0.9772438 NA NA -0.02976203 -0.03972286 0.9383228 0.9756487 NA -0.03474244 NA FALSE NA 0 -0.493 . intron_variant MODIFIER AKNA HGNC 24108 ENST00000307564 6/21 1 NA CCA C,T 8.236e-06 9:114364651 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 intron_variant 0.146796 0.11288 0.09104 0.101703 0.5726983 0.167301 0.02852574 FALSE 4.06095e-06 ENSE00001666348_017 ENSE00001666348 017 9 117126790 117126959 - 50 60 60 T C 117126945 2059 15 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCCGTAGACTCCCACAC 114364509 114364679 114364664 114364665 114364665 upstr_intron -46 -0.75 GTGTGGGAGTCTACGGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 429 227 0.9866084 0.9450473 0.9658279 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.01255489 -0.03219649 0.9383228 0.9756487 NA -0.009820804 NA FALSE NA 0 -0.035 . intron_variant MODIFIER AKNA HGNC 24108 ENST00000307564 6/21 1 NA CTG T,C 8.236e-06 9:114364665 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 intron_variant -0.055415 0.1491 0.04853 0.108992 0.7552622 0.0919111 0.02852574 FALSE 4.06365e-06 ENSE00001666348_018 ENSE00001666348 018 9 117126790 117126959 - 50 60 60 G C 117126946 2060 14 GACAGTGGTTGTCTGGCAGTTCCATGGGTGGCTCCTGAATTGGGCAGTACCTTGACTTGGTCCTGGGGCATGAGACGTCCTGCCTGTATCAGTCTTTCAAAGGACTCCACCTGGACATTGGGAGGGGAAGGAAATATGCTCCATTAATCCAGTCCTCTAGACTCCCACAC 114364509 114364679 114364665 114364666 114364666 upstr_intron -47 -0.7666667 GTGTGGGAGTCTAGAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC GTGTGGGAGTCTACAGGACTGGATTAATGGAGCATATTTCCTTCCCCTCCCAATGTCCAGGTGGAGTCCTTTGAAAGACTGATACAGGCAGGACGTCTCATGCCCCAGGACCAAGTCAAGGTACTGCCCAATTCAGGAGCCACCCATGGAACTGCCAGACAACCACTGTC mutant NA NA NA NA NA 1222 471 0.9876719 0.9773167 0.9824943 0.9388121 0.9378336 0.9740535 0.9772438 NA NA 0.01361839 7.288526e-05 0.9383228 0.9756487 NA 0.006845638 NA FALSE NA 0 -0.995 . intron_variant MODIFIER AKNA HGNC 24108 ENST00000307564 6/21 1 NA TGT G,C 8.236e-06 9:114364666 AKNA HGNC Symbol protein_coding 60249 ENSG00000106948 ENSE00001666348 intron_variant -0.110465 0.16642 0.10365 0.108992 0.7033822 0.0919111 0.02852574 FALSE 4.06395e-06 ENSE00001667108_000 ENSE00001667108 000 7 7516698 7516867 - 45 69 56 NA NA NA NA NA CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 NA NA NA NA NA NA CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG natural 64 163 0.85 0.8431957 0.8465978 1461 2361 0.9366979 0.9239864 0.9303422 0.85 0.8431957 0.9366979 0.9239864 0 0 0 0 0.8465978 0.9303422 0 0 0 FALSE FALSE NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003473615 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001667108_001 ENSE00001667108 001 7 7516698 7516867 - 45 69 56 G A 7516711 556 157 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGTTTTGTCTTACATG 7477066 7477236 7477079 7477080 7477080 downstr_intron 32 1.727273 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGTTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 263 103 0.9780838 0.9484876 0.9632857 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.04138585 0.02450119 0.8465978 0.9303422 NA 0.03294352 NA FALSE NA 0.008 0.479 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 14/34 1 NA AGC G,A 8.277e-06 7:7477080 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 intron_variant 0.498338 0.1593 0.03354 0.061011 0.6690448 0.0603618 1.893035e-20 FALSE NA ENSE00001667108_002 ENSE00001667108 002 7 7516698 7516867 - 45 69 56 T C 7516718 557 150 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAGAAGGTGCTTTGTCTTACATG 7477066 7477236 7477086 7477087 7477087 downstr_intron 25 1.568182 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAGAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 13 366 0.95 0.9359981 0.9429991 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.01330208 0.01201176 0.8465978 0.9303422 NA 0.01265692 NA FALSE NA 0.004 0.231 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 14/34 rs370767982 1 C:0.0012 C:0 C:0 NA C:0 C:0.001 C:0.0051 C:0 C:0.0002 TTT T,C 0.0007863 7:7477087 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 intron_variant 1.00137 0.1726 0.03037 0.061011 0.7266696 0.0603618 1.893035e-20 FALSE 0.00073146 ENSE00001667108_003 ENSE00001667108 003 7 7516698 7516867 - 45 69 56 A G 7516726 558 142 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGCACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477094 7477095 7477095 downstr_intron 17 1.386364 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGCACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 49 126 0.95 0.9487636 0.9493818 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.01330208 0.02477719 0.8465978 0.9303422 NA 0.01903963 NA FALSE NA 0 -0.03 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 14/34 1 NA TAC A,G 8.277e-06 7:7477095 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 intron_variant 1.276449 0.14111 0.02033 0.061011 0.6421882 0.0603618 1.893035e-20 FALSE 4.06392e-06 ENSE00001667108_004 ENSE00001667108 004 7 7516698 7516867 - 45 69 56 G A 7516732 559 136 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACTTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477100 7477101 7477101 downstr_intron 11 1.25 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACTTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 17 422 1 0.9656881 0.982844 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.06330208 0.04170167 0.8465978 0.9303422 NA 0.05250188 NA FALSE NA 0 -0.381 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 14/34 1 NA AGG G,A 8.277e-06 7:7477101 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 intron_variant 1.644735 0.14563 0.03183 0.061011 0.7814314 0.156124 1.893035e-20 FALSE 8.12724e-06 ENSE00001667108_006 ENSE00001667108 006 7 7516698 7516867 - 45 69 56 G A 7516748 561 120 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGATCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477116 7477117 7477117 exon -6 0.9275362 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGATCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 77 17 0.9989261 1 0.9994631 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.06222823 0.07601362 0.8465978 0.9303422 NA 0.06912092 NA FALSE NA 0.999 5.202 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 14/35 1 tolerated(0.17) probably_damaging(0.998) NA GGT G,A 8.277e-06 7:7477117 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 missense_variant 4.835514 0.98079 0.92132 0.487112 0.9988297 0 1.893035e-20 FALSE 4.0622e-06 ENSE00001667108_009 ENSE00001667108 009 7 7516698 7516867 - 45 69 56 A G 7516757 564 111 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGACTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477125 7477126 7477126 exon -15 0.7971014 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGACTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 90 184 0.961027 0.9530229 0.9570249 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.02432905 0.02903653 0.8465978 0.9303422 NA 0.02668279 NA FALSE NA 0.553 -0.644 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 14/35 1 tolerated(1) benign(0.001) NA AAT A,G 8.277e-06 7:7477126 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 missense_variant 1.033426 0.92661 0.0945 0.487112 0.7557271 0 1.893035e-20 FALSE 4.06197e-06 ENSE00001667108_011 ENSE00001667108 011 7 7516698 7516867 - 45 69 56 G A 7516767 566 101 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCTGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477135 7477136 7477136 exon -25 0.6521739 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCTGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 37 272 0.01050562 0 0.005252808 0.85 0.8431957 0.9366979 0.9239864 NA NA -0.9261923 -0.9239864 0.8465978 0.9303422 NA -0.9250893 NA TRUE NA 0.004 -3.241 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 14/35 rs367990101 1 NA A:0.0003 A:0 CGG G,A 4.967e-05 7:7477136 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 synonymous_variant 1.63025 0.09208 0.0044 0.487112 0.6580907 0 1.893035e-20 FALSE 9.3445e-05 ENSE00001667108_013 ENSE00001667108 013 7 7516698 7516867 - 45 69 56 C G 7516777 568 91 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGACGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477145 7477146 7477146 exon -35 0.5072464 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGACGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 42 314 1 0.987881 0.9939405 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.06330208 0.06389461 0.8465978 0.9303422 NA 0.06359834 NA FALSE NA 1 1.886 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 14/35 rs370254789 1 deleterious(0.03) probably_damaging(0.985) NA G:0 G:0.0001 CCT C,G 1.656e-05 7:7477146 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 missense_variant 5.029753 0.9813 0.86073 0.487112 0.9864017 0 1.893035e-20 FALSE 1.62505e-05 ENSE00001667108_017 ENSE00001667108 017 7 7516698 7516867 - 45 69 56 G C 7516808 572 60 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTGCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477176 7477177 7477177 exon 4 0.05797101 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTGCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 295 50 0.9727241 0.9783908 0.9755575 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.03602622 0.05440443 0.8465978 0.9303422 NA 0.04521533 NA FALSE NA 1 2.691 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 14/35 rs201982609&COSM1313282 1 deleterious(0) benign(0.243) NA C:0.0003 C:0.002 GGA G,C 0.00125 7:7477177 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 missense_variant 3.361886 0.98162 0.88876 0.487112 0.9956518 0 1.893035e-20 FALSE 0.00106521 ENSE00001667108_020 ENSE00001667108 020 7 7516698 7516867 - 45 69 56 G C 7516815 575 53 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAAGCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477183 7477184 7477184 upstr_intron -4 -0.05357143 CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAAGCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 211 109 0.9720332 0.9817844 0.9769088 0.85 0.8431957 0.9366979 0.9239864 NA NA 0.03533526 0.05779806 0.8465978 0.9303422 NA 0.04656666 NA FALSE NA 0.697 0.154 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7477184 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 splice_region_variant 1.134848 0.77826 0.11202 0.061011 0.8030129 0.323105 1.893035e-20 FALSE 8.13637e-06 ENSE00001667108_027 ENSE00001667108 027 7 7516698 7516867 - 45 69 56 G C 7516849 582 19 CTCCTCTTTCCCTTTTCTGTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477217 7477218 7477218 upstr_intron -38 -0.6607143 CTCCTCTTTCCCTTTTCTGTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 24 16 0.8107398 0.8 0.8053699 0.85 0.8431957 0.9366979 0.9239864 NA NA -0.1259581 -0.1239864 0.8465978 0.9303422 NA -0.1249722 NA FALSE NA 0 -0.481 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7477218 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 intron_variant -0.456678 0.14864 0.05156 0.061011 0.404558 0.0804431 1.893035e-20 FALSE 4.22819e-06 ENSE00001667108_028 ENSE00001667108 028 7 7516698 7516867 - 45 69 56 G A 7516849 583 19 CTCCTCTTTCCCTTTTCTTTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477217 7477218 7477218 upstr_intron -38 -0.6607143 CTCCTCTTTCCCTTTTCTTTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 44 547 0.8058917 0.9404622 0.8731769 0.85 0.8431957 0.9366979 0.9239864 NA NA -0.1308062 0.01647578 0.8465978 0.9303422 NA -0.05716522 NA FALSE NA 0 -0.481 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003473615 intron_variant -0.102079 0.12784 0.01025 0.061011 0.3959138 0.0804431 1.893035e-20 FALSE 0.000101476 ENSE00001667108_029 ENSE00001667108 029 7 7516698 7516867 - 45 69 56 G A 7516851 584 17 CTCCTCTTTCCCTTTTTTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477219 7477220 7477220 upstr_intron -40 -0.6964286 CTCCTCTTTCCCTTTTTTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 276 432 0.8787692 0.8 0.8393846 0.85 0.8431957 0.9366979 0.9239864 NA NA -0.05792875 -0.1239864 0.8465978 0.9303422 NA -0.09095757 NA FALSE NA 0 -1.532 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 13/34 rs537427236 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGA G,A 8.279e-06 7:7477220 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 intron_variant -0.00464 0.12103 0.00504 0.061011 0.4795707 0.0436289 1.893035e-20 FALSE 4.25952e-06 ENSE00001667108_030 ENSE00001667108 030 7 7516698 7516867 - 45 69 56 A G 7516854 585 14 CTCCTCTTTCCCTCTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG 7477066 7477236 7477222 7477223 7477223 upstr_intron -43 -0.75 CTCCTCTTTCCCTCTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG CTCCTCTTTCCCTTTTCTCTCTCCTCCTGCTCCTCATTTTCTCCTATCCTAACCAGGGTCCCCGTGGTCCTGAGGGAGTACCAGGAGAGAGGGGCTTACCCGGAGAAGGATTTCCAGGACCAAAGGTAACAATACCTTCTGTACCAGGAAAAGGTGCTTTGTCTTACATG mutant NA NA NA NA NA 19 95 0.8635864 0.8886203 0.8761034 0.85 0.8431957 0.9366979 0.9239864 NA NA -0.07311148 -0.0353661 0.8465978 0.9303422 NA -0.05423879 NA FALSE NA 0.123 1.621 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 13/34 1 NA AAA A,G 8.279e-06 7:7477223 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003473615 intron_variant 0.015572 0.23732 0.12925 0.061011 0.5078957 0.0436289 1.893035e-20 FALSE 4.26196e-06 ENSE00001668372_000 ENSE00001668372 000 14 68022483 68022652 + 59 63 48 NA NA NA NA NA CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 NA NA NA NA NA NA TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG natural 61 96 0.9947973 0.9900472 0.9924223 1654 2469 0.974449 0.9967247 0.9855868 0.9947973 0.9900472 0.974449 0.9967247 0 0 0 0 0.9924223 0.9855868 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00001668372 NA NA NA NA NA NA NA 0.0006602846 FALSE NA ENSE00001668372_001 ENSE00001668372 001 14 68022483 68022652 + 59 63 48 A G 68022495 722 13 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACCGTGAACACGGCA 67555765 67555935 67555777 67555778 67555778 upstr_intron -47 -0.779661 TGCCGTGTTCACGGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 61 366 1 0.9987014 0.9993507 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.025551 0.001976766 0.9924223 0.9855868 NA 0.01376388 NA FALSE NA 0 -0.898 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 2/28 rs367736150 1 NA G:0 G:0.0006 CAG A 0.0001734 14:67555778 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant -0.081678 0.13452 0.01167 0.06567 0.6549408 0.0867463 0.0006602846 FALSE 0.00026627 ENSE00001668372_002 ENSE00001668372 002 14 68022483 68022652 + 59 63 48 A G 68022498 723 16 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCCACTGTGAACACGGCA 67555765 67555935 67555780 67555781 67555781 upstr_intron -44 -0.7288136 TGCCGTGTTCACAGTGGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 1672 901 0.9993583 0.9951665 0.9972624 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.02490929 -0.001558155 0.9924223 0.9855868 NA 0.01167557 NA FALSE NA 0 -0.503 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 2/28 rs371569953 1 NA G:0.0002 G:0 TAG A 5.78e-05 14:67555781 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant -0.006025 0.11623 0.01053 0.06567 0.6574832 0.0513867 0.0006602846 FALSE 5.87692e-05 ENSE00001668372_003 ENSE00001668372 003 14 68022483 68022652 + 59 63 48 A C 68022504 724 22 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCAGGTCCCTACTGTGAACACGGCA 67555765 67555935 67555786 67555787 67555787 upstr_intron -38 -0.6271186 TGCCGTGTTCACAGTAGGGACCTGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 640 96 1 0.9709163 0.9854582 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.025551 -0.02580834 0.9924223 0.9855868 NA -0.0001286687 NA FALSE NA 0 -0.403 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 2/28 1 NA CAT A 8.257e-06 14:67555787 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant -0.095872 0.11312 0.02783 0.06567 0.7709488 0.0507997 0.0006602846 FALSE 4.14309e-06 ENSE00001668372_005 ENSE00001668372 005 14 68022483 68022652 + 59 63 48 C T 68022514 726 32 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATATAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555796 67555797 67555797 upstr_intron -28 -0.4576271 TGCCGTGTTCACAGTAGGGACATGGCACCTATATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant 63 72 0.9878094 0.9886512 0.9882303 434 948 1 1 1 0.9947973 0.9900472 0.974449 0.9967247 -0.006987934 -0.001396044 0.025551 0.003275318 0.9924223 0.9855868 -0.004191989 0.01441316 0.01860515 FALSE FALSE 0 -3.221 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 2/28 1 NA ACA C 0.0001817 14:67555797 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant 1.241422 0.16807 0.00693 0.06567 0.8092489 0.175836 0.0006602846 FALSE 0.000151806 ENSE00001668372_006 ENSE00001668372 006 14 68022483 68022652 + 59 63 48 C T 68022517 727 35 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAAATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555799 67555800 67555800 upstr_intron -25 -0.4067797 TGCCGTGTTCACAGTAGGGACATGGCACCTACATTTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 220 306 1 0.9890639 0.9945319 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.025551 -0.007660811 0.9924223 0.9855868 NA 0.008945094 NA FALSE NA 0 -0.441 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 2/28 1 NA TCT C 8.257e-06 14:67555800 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant 1.464553 0.17407 0.01342 0.06567 0.8312117 0.158646 0.0006602846 FALSE 4.09514e-06 ENSE00001668372_007 ENSE00001668372 007 14 68022483 68022652 + 59 63 48 A C 68022537 728 55 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCGTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555819 67555820 67555820 upstr_intron -5 -0.06779661 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCACGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 302 245 0.9958388 0.9913052 0.993572 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.02138979 -0.005419455 0.9924223 0.9855868 NA 0.007985167 NA FALSE NA 0.343 0.266 . splice_region_variant&intron_variant LOW PLEKHH1 HGNC 17733 ENST00000329153 2/28 rs201463836 1 NA AAG A 5.779e-05 14:67555820 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 splice_region_variant 1.134974 0.28854 0.09676 0.06567 0.8232381 0.447318 0.0006602846 FALSE 4.88751e-05 ENSE00001668372_008 ENSE00001668372 008 14 68022483 68022652 + 59 63 48 G T 68022544 729 62 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGAATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555826 67555827 67555827 exon 3 0.04761905 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATTCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 105 74 0.9896224 1 0.9948112 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.0151734 0.003275318 0.9924223 0.9855868 NA 0.009224361 NA FALSE NA 1 7.55 . missense_variant&splice_region_variant MODERATE PLEKHH1 HGNC 17733 ENST00000329153 3/29 1 tolerated(0.1) possibly_damaging(0.574) NA TGC G 8.256e-06 14:67555827 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 missense_variant 4.698605 0.99435 0.9844 0.706298 0.9964635 0 0.0006602846 FALSE 8.14405e-06 ENSE00001668372_010 ENSE00001668372 010 14 68022483 68022652 + 59 63 48 G A 68022571 731 89 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCTTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555853 67555854 67555854 exon 30 0.4761905 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAAGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 310 853 0.9894523 0.9977686 0.9936104 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.01500333 0.001043873 0.9924223 0.9855868 NA 0.008023602 NA FALSE NA 0.983 0.592 . synonymous_variant LOW PLEKHH1 HGNC 17733 ENST00000329153 3/29 rs528996610 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGG G 0.0001239 14:67555854 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 synonymous_variant 1.230056 0.97233 0.75062 0.706298 0.6744982 0 0.0006602846 FALSE 0.000126169 ENSE00001668372_011 ENSE00001668372 011 14 68022483 68022652 + 59 63 48 G A 68022572 732 90 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGTCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555854 67555855 67555855 exon 31 0.4920635 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGACAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 641 218 0.9991162 1 0.9995581 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.02466716 0.003275318 0.9924223 0.9855868 NA 0.01397124 NA FALSE NA 1 5.666 . missense_variant MODERATE PLEKHH1 HGNC 17733 ENST00000329153 3/29 rs200379117 1 deleterious(0) probably_damaging(0.954) NA GGC G 0.0001899 14:67555855 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 missense_variant 6.865642 0.99089 0.95758 0.706298 0.999153 0 0.0006602846 FALSE 0.000122108 ENSE00001668372_012 ENSE00001668372 012 14 68022483 68022652 + 59 63 48 C T 68022592 733 110 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCATTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555874 67555875 67555875 exon -13 0.8095238 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAATGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 476 271 0.8971422 1 0.9485711 0.9947973 0.9900472 0.974449 0.9967247 NA NA -0.07730678 0.003275318 0.9924223 0.9855868 NA -0.03701573 NA FALSE NA 0.031 -0.746 rs116093796 synonymous_variant LOW PLEKHH1 HGNC 17733 ENST00000329153 3/29 rs116093796 1 T:0.0134 T:0.0499 T:0.0014 NA T:0 T:0 T:0 T:0.0464 T:0.0004 ACG C 0.004312 14:67555875 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 synonymous_variant 1.284972 0.23024 0.01041 0.706298 0.7230475 0 0.0006602846 FALSE 0.00363007 ENSE00001668372_013 ENSE00001668372 013 14 68022483 68022652 + 59 63 48 T G 68022595 734 113 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCCGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555877 67555878 67555878 exon -10 0.8571429 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCGGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 307 1515 1 0.9973906 0.9986953 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.025551 0.0006658711 0.9924223 0.9855868 NA 0.01310843 NA FALSE NA 0 -4.399 . synonymous_variant LOW PLEKHH1 HGNC 17733 ENST00000329153 3/29 1 NA CTG C 1.652e-05 14:67555878 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 synonymous_variant 0.50196 0.0909 0.00808 0.706298 0.5026737 0 0.0006602846 FALSE 1.2221e-05 ENSE00001668372_014 ENSE00001668372 014 14 68022483 68022652 + 59 63 48 C G 68022601 735 119 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGCGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555883 67555884 67555884 exon -4 0.952381 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACGCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant 16 13 1 1 1 779 1898 1 0.9989139 0.9994569 0.9947973 0.9900472 0.974449 0.9967247 0.005202652 0.009952762 0.025551 0.002189206 0.9924223 0.9855868 0.007577707 0.0138701 0.006292395 FALSE FALSE 1 0.847 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:67555884 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 synonymous_variant 1.630194 0.96305 0.62816 0.736574 0.582274 0 0.0006602846 FALSE 4.0785e-06 ENSE00001668372_015 ENSE00001668372 015 14 68022483 68022652 + 59 63 48 C T 68022601 736 119 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGAGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555883 67555884 67555884 exon -4 0.952381 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACTCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant 20 21 0.9887535 0.981206 0.9849797 NA NA NA NA NA 0.9947973 0.9900472 0.974449 0.9967247 -0.006043886 -0.008841203 NA NA 0.9924223 0.9855868 -0.007442545 NA NA NA FALSE 1 0.847 NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00001668372 synonymous_variant 1.87568 0.96202 0.55594 0.736574 0.7190667 0 0.0006602846 FALSE NA ENSE00001668372_017 ENSE00001668372 017 14 68022483 68022652 + 59 63 48 C T 68022609 738 127 CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGATTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555891 67555892 67555892 downstr_intron 5 1.106383 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAATCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 477 257 0.9960517 0.998203 0.9971274 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.02160271 0.001478311 0.9924223 0.9855868 NA 0.01154051 NA FALSE NA 0.073 -0.195 . splice_region_variant&intron_variant LOW PLEKHH1 HGNC 17733 ENST00000329153 3/28 1 NA ACC C 8.264e-06 14:67555892 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 splice_region_variant 1.499188 0.30687 0.06445 0.084033 0.7925886 0.186919 0.0006602846 FALSE 4.081e-06 ENSE00001668372_018 ENSE00001668372 018 14 68022483 68022652 + 59 63 48 C T 68022626 739 144 CGACGGTCATTCCCCTGCATATTCCCACCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555908 67555909 67555909 downstr_intron 22 1.468085 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGTGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 299 912 0.9974959 1 0.9987479 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.02304687 0.003275318 0.9924223 0.9855868 NA 0.0131611 NA FALSE NA 0 -4.14 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 3/28 1 NA GCG C 8.268e-06 14:67555909 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant -0.311331 0.05318 0.00197 0.084033 0.6539237 0.112611 0.0006602846 FALSE NA ENSE00001668372_019 ENSE00001668372 019 14 68022483 68022652 + 59 63 48 G A 68022627 740 145 CGACGGTCATTCCCCTGCATATTCCTGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555909 67555910 67555910 downstr_intron 23 1.489362 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCAGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 1351 397 0.97449 0.9984392 0.9864646 0.9947973 0.9900472 0.974449 0.9967247 NA NA 4.095267e-05 0.001714532 0.9924223 0.9855868 NA 0.0008777424 NA FALSE NA 0 -0.849 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 3/28 1 NA CGG G 8.268e-05 14:67555910 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant -0.093821 0.08372 0.01488 0.084033 0.681311 0.0693539 0.0006602846 FALSE 5.4095e-05 ENSE00001668372_020 ENSE00001668372 020 14 68022483 68022652 + 59 63 48 G A 68022638 741 156 CGACGGTCATTCCCTTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555920 67555921 67555921 downstr_intron 34 1.723404 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAAGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 555 335 0.9955524 1 0.9977762 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.02110336 0.003275318 0.9924223 0.9855868 NA 0.01218934 NA FALSE NA 0 -0.398 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 3/28 1 NA AGG G 8.269e-06 14:67555921 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant 0.150125 0.16441 0.02918 0.073086 0.5807787 0.0533931 0.0006602846 FALSE 4.23671e-06 ENSE00001668372_021 ENSE00001668372 021 14 68022483 68022652 + 59 63 48 G A 68022640 742 158 CGACGGTCATTCTCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTACCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATCTGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 67555922 67555923 67555923 downstr_intron 36 1.765957 TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGAGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG mutant NA NA NA NA NA 693 279 0.9985835 0.9988829 0.9987332 0.9947973 0.9900472 0.974449 0.9967247 NA NA 0.02413448 0.002158187 0.9924223 0.9855868 NA 0.01314633 NA FALSE NA 0 -0.169 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 3/28 1 NA GGG G 8.27e-06 14:67555923 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001668372 intron_variant 0.076678 0.12835 0.03966 0.073086 0.7404437 0.0533931 0.0006602846 FALSE 4.26964e-06 ENSE00001668372_BRK ENSE00001668372 BRK 14 68022483 68022652 + 59 63 48 A,G; T,T NA NA NA CGACGGTCATTCCCCTGCATATTCCCGCCGATCCCCTCCCCTGGTTGGCTGGGTCTCAGCGTTCTCTGCTCTCTGCTCTGCCTCCAGCAGCCTCTGCTCCAGCTCCTGCATAAGCTTGGCCAGAGAGAAAGGGGAGATGTAGGTGCCATGTCCCTACTGTGAACACGGCA 67555765 67555935 NA NA NA NA NA NA TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCTTATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGCCAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG TGCCGTGTTCACAGTAGGGACATGGCACCTACATCTCCCCTTTCTCTCTGGCCAAGCAGATGCAGGAGCTGGAGCAGAGGCTGCTGGAGGCAGAGCAGAGAGCAGAGAACGCTGAGACCCAGGTAACCAGGGGAGGGGATCGGCGGGAATATGCAGGGGAATGACCGTCG control 327 171 0 0 0 NA NA NA NA NA 0.9947973 0.9900472 0.974449 0.9967247 -0.9947973 -0.9900472 NA NA 0.9924223 0.9855868 -0.9924223 NA NA NA TRUE NA NA NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00001668372 NA NA NA NA NA NA NA 0.0006602846 FALSE NA ENSE00001668416_000 ENSE00001668416 000 14 68040471 68040640 + 47 87 36 NA NA NA NA NA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 NA NA NA NA NA NA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA natural 148 149 0.9634634 0.9908356 0.9771495 4942 5721 0.8973614 0.8996904 0.8985259 0.9634634 0.9908356 0.8973614 0.8996904 0 0 0 0 0.9771495 0.8985259 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00003684431 NA NA NA NA NA NA NA 0.0006602846 FALSE NA ENSE00001668416_001 ENSE00001668416 001 14 68040471 68040640 + 47 87 36 C T 68040493 761 23 AAAGGCTCCACATTCAGTGGCTTTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573775 67573776 67573776 upstr_intron -25 -0.5106383 AAAGGCTCCACATTCAGTGGCTTTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 16 27 0.9976824 0.922917 0.9602997 634 2824 0.9936129 0.9979463 0.9957796 0.9634634 0.9908356 0.8973614 0.8996904 0.03421892 -0.06791869 0.0962515 0.09825586 0.9771495 0.8985259 -0.01684988 0.09725368 0.1141036 FALSE FALSE 0.002 -0.727 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:67573776 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 intron_variant 0.076943 0.12399 0.00356 0.078448 0.7311402 0.0887467 0.0006602846 FALSE 7.31137e-05 ENSE00001668416_002 ENSE00001668416 002 14 68040471 68040640 + 47 87 36 C G 68040493 762 23 AAAGGCTCCACATTCAGTGGCTGTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573775 67573776 67573776 upstr_intron -25 -0.5106383 AAAGGCTCCACATTCAGTGGCTGTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 24 19 1 1 1 237 1372 1 0.8520232 0.9260116 0.9634634 0.9908356 0.8973614 0.8996904 0.03653656 0.009164363 0.1026386 -0.04766727 0.9771495 0.8985259 0.02285046 0.02748566 0.004635192 FALSE FALSE 0.002 -0.727 NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00003684431 intron_variant -0.060496 0.18901 0.03015 0.078448 0.6167686 0.0887467 0.0006602846 FALSE 1.62475e-05 ENSE00001668416_003 ENSE00001668416 003 14 68040471 68040640 + 47 87 36 C G 68040500 763 30 AAAGGCTCCACATTCAGTGGCTCTCCTCTGCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573782 67573783 67573783 upstr_intron -18 -0.3617021 AAAGGCTCCACATTCAGTGGCTCTCCTCTGCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 30 37 0.985286 0.9958225 0.9905542 160 2111 1 0.9828984 0.9914492 0.9634634 0.9908356 0.8973614 0.8996904 0.02182258 0.004986838 0.1026386 0.08320796 0.9771495 0.8985259 0.01340471 0.09292327 0.07951856 FALSE FALSE 0 -0.092 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 1 NA TCC C,G 8.273e-06 14:67573783 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 intron_variant -0.392532 0.19464 0.03971 0.078448 0.3108613 0.0887467 0.0006602846 FALSE 4.06157e-06 ENSE00001668416_004 ENSE00001668416 004 14 68040471 68040640 + 47 87 36 T C 68040509 764 39 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTCCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573791 67573792 67573792 upstr_intron -9 -0.1702128 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTCCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 19 11 0.9980679 0.9994961 0.998782 513 604 0.99676 1 0.99838 0.9634634 0.9908356 0.8973614 0.8996904 0.03460445 0.008660508 0.09939855 0.1003096 0.9771495 0.8985259 0.02163248 0.09985406 0.07822158 FALSE FALSE 0.001 0.318 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 1 NA TTC T,C 8.272e-06 14:67573792 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 intron_variant -0.107622 0.28605 0.29871 0.078448 0.4553118 0.27604 0.0006602846 FALSE 8.12229e-06 ENSE00001668416_005 ENSE00001668416 005 14 68040471 68040640 + 47 87 36 T G 68040513 765 43 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTGACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573795 67573796 67573796 upstr_intron -5 -0.08510638 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTGACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 29 16 0.9997111 0.9988423 0.9992767 270 843 0.9980015 0.9999548 0.9989782 0.9634634 0.9908356 0.8973614 0.8996904 0.03624764 0.008006705 0.1006401 0.1002644 0.9771495 0.8985259 0.02212717 0.1004523 0.07832508 FALSE FALSE 0.263 1.88 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 rs547618550 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TTA T,G 2.482e-05 14:67573796 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 splice_region_variant 0.79843 0.34464 0.35762 0.078448 0.6492895 0.843113 0.0006602846 FALSE 2.43665e-05 ENSE00001668416_006 ENSE00001668416 006 14 68040471 68040640 + 47 87 36 A G 68040516 766 46 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACGGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573798 67573799 67573799 upstr_intron -2 -0.0212766 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACGGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 1641 522 0.0008029782 0.001246152 0.001024565 622 743 0.0221886 0.003095593 0.0126421 0.9634634 0.9908356 0.8973614 0.8996904 -0.9626605 -0.9895895 -0.8751728 -0.8965948 0.9771495 0.8985259 -0.976125 -0.8858838 0.09024114 TRUE TRUE 1 9.111 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 1 NA CAG A,G 8.272e-06 14:67573799 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 splice_acceptor_variant 4.825477 0.99438 0.99597 0.162113 0.9952919 0.982402 0.0006602846 FALSE 4.06105e-06 ENSE00001668416_007 ENSE00001668416 007 14 68040471 68040640 + 47 87 36 C T 68040530 767 60 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCTGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573812 67573813 67573813 exon 13 0.1494253 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCTGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 34 20 0.9989452 0.9991131 0.9990292 1113 633 0.9238359 0.9959999 0.9599179 0.9634634 0.9908356 0.8973614 0.8996904 0.03548176 0.008277485 0.02647444 0.09630947 0.9771495 0.8985259 0.02187962 0.06139195 0.03951233 FALSE FALSE 1 1.839 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 rs530418837 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 0.0001737 14:67573813 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 missense_variant 7.730031 0.97937 0.94301 0.706298 0.9991881 0 0.0006602846 FALSE 0.000158383 ENSE00001668416_008 ENSE00001668416 008 14 68040471 68040640 + 47 87 36 G A 68040531 768 61 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCAGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573813 67573814 67573814 exon 14 0.1609195 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCAGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 22 25 1 1 1 925 773 0.8649152 0.7654368 0.815176 0.9634634 0.9908356 0.8973614 0.8996904 0.03653656 0.009164363 -0.0324462 -0.1342537 0.9771495 0.8985259 0.02285046 -0.08334993 0.1062004 FALSE FALSE 1 4.685 rs143727242 upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 rs143727242 1 A:0.0008 A:0.0015 A:0.0014 NA A:0 A:0.001 A:0 CGG G,A 1.655e-05 14:67573814 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 missense_variant 5.739666 0.98926 0.9754 0.706298 0.9989141 0 0.0006602846 FALSE 8.12209e-06 ENSE00001668416_009 ENSE00001668416 009 14 68040471 68040640 + 47 87 36 A G 68040541 769 71 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAGGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573823 67573824 67573824 exon 24 0.2758621 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAGGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant NA NA NA NA NA 270 1734 0.995428 0.9995598 0.9974939 0.9634634 0.9908356 0.8973614 0.8996904 NA NA 0.09806654 0.0998694 0.9771495 0.8985259 NA 0.09896797 NA FALSE NA 1 1.68 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 rs375218462 1 NA G:0.0003 G:0 AAG A,G 1.655e-05 14:67573824 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 synonymous_variant 0.595881 0.96535 0.57907 0.706298 0.5164356 0 0.0006602846 FALSE 8.12203e-06 ENSE00001668416_010 ENSE00001668416 010 14 68040471 68040640 + 47 87 36 C T 68040563 770 93 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCTGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573845 67573846 67573846 exon -42 0.5287356 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCTGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant NA NA NA NA NA 210 922 0.9949954 1 0.9974977 0.9634634 0.9908356 0.8973614 0.8996904 NA NA 0.09763397 0.1003096 0.9771495 0.8985259 NA 0.09897177 NA FALSE NA 0.004 2.057 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 1 NA CCG C,T 0.0001489 14:67573846 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 missense_variant 3.100193 0.41265 0.067 0.706298 0.973295 0 0.0006602846 FALSE 0.000117769 ENSE00001668416_011 ENSE00001668416 011 14 68040471 68040640 + 47 87 36 G A 68040564 771 94 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCACTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573846 67573847 67573847 exon -41 0.5402299 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCACTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 11 26 0.9291374 0.85 0.8895687 NA NA NA NA NA 0.9634634 0.9908356 0.8973614 0.8996904 -0.03432602 -0.1408356 NA NA 0.9771495 0.8985259 -0.08758083 NA NA NA FALSE 0.001 0.71 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 rs369545508 1 NA A:0 A:0.0001 CGC G,A 1.655e-05 14:67573847 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 missense_variant 1.682259 0.29027 0.11917 0.706298 0.8386222 0 0.0006602846 FALSE 2.03052e-05 ENSE00001668416_012 ENSE00001668416 012 14 68040471 68040640 + 47 87 36 T C 68040573 772 103 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAACTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573855 67573856 67573856 exon -32 0.6436782 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAACTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant NA NA NA NA NA 199 753 0.9981238 0.9305679 0.9643458 0.9634634 0.9908356 0.8973614 0.8996904 NA NA 0.1007624 0.03087742 0.9771495 0.8985259 NA 0.06581989 NA FALSE NA 1 7.801 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 rs201861455&COSM1370704&COSM1370703 1 NA C:0 C:0.0004 ATT T,C 0.0002896 14:67573856 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 missense_variant 4.232099 0.99411 0.99703 0.706298 0.9987224 0 0.0006602846 FALSE 0.000430464 ENSE00001668416_013 ENSE00001668416 013 14 68040471 68040640 + 47 87 36 C T 68040578 773 108 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTTGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573860 67573861 67573861 exon -27 0.7011494 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTTGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 18 18 0.9923101 0.9993707 0.9958404 312 47 0.7438609 0.881123 0.8124919 0.9634634 0.9908356 0.8973614 0.8996904 0.02884668 0.008535073 -0.1535005 -0.01856745 0.9771495 0.8985259 0.01869088 -0.08603398 0.1047249 FALSE FALSE 0.997 3.045 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 COSM1290314&COSM1290313 1 NA TCG C,T 8.273e-06 14:67573861 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 stop_gained 13.28836 0.98796 0.97731 0.706298 0.998218 0 0.0006602846 FALSE 4.06105e-06 ENSE00001668416_014 ENSE00001668416 014 14 68040471 68040640 + 47 87 36 G A 68040587 774 117 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGAGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573869 67573870 67573870 exon -18 0.8045977 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGAGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant NA NA NA NA NA 744 1922 1 0.8078605 0.9039302 0.9634634 0.9908356 0.8973614 0.8996904 NA NA 0.1026386 -0.09182995 0.9771495 0.8985259 NA 0.005404315 NA FALSE NA 1 9.571 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 rs377660207 1 NA A:0 A:0.0001 GGG G,A 1.655e-05 14:67573870 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 missense_variant 6.793137 0.99576 0.99809 0.706298 0.9989025 0 0.0006602846 FALSE 2.03054e-05 ENSE00001668416_015 ENSE00001668416 015 14 68040471 68040640 + 47 87 36 C T 68040597 775 127 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGATGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573879 67573880 67573880 exon -8 0.9195402 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGATGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant NA NA NA NA NA 2521 316 0.9737841 0.9990307 0.9864074 0.9634634 0.9908356 0.8973614 0.8996904 NA NA 0.07642265 0.09934024 0.9771495 0.8985259 NA 0.08788144 NA FALSE NA 1 4.769 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 1 NA ACG C,T 4.136e-05 14:67573880 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 missense_variant 6.676868 0.98741 0.97248 0.706298 0.9988619 0 0.0006602846 FALSE 2.43675e-05 ENSE00001668416_016 ENSE00001668416 016 14 68040471 68040640 + 47 87 36 G A 68040598 776 128 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACATTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573880 67573881 67573881 exon -7 0.9310345 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACATTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant NA NA NA NA NA 1674 540 1 1 1 0.9634634 0.9908356 0.8973614 0.8996904 NA NA 0.1026386 0.1003096 0.9771495 0.8985259 NA 0.1014741 NA FALSE NA 0.004 -0.831 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 1 NA CGT G,A 4.963e-05 14:67573881 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 synonymous_variant 1.298735 0.15559 0.00807 0.706298 0.6624001 0 0.0006602846 FALSE 2.84306e-05 ENSE00001668416_017 ENSE00001668416 017 14 68040471 68040640 + 47 87 36 C T 68040612 777 142 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCATGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573894 67573895 67573895 downstr_intron 8 1.228571 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCATGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 18 11 1 1 1 1105 862 1 0.9977071 0.9988535 0.9634634 0.9908356 0.8973614 0.8996904 0.03653656 0.009164363 0.1026386 0.09801662 0.9771495 0.8985259 0.02285046 0.1003276 0.07747714 FALSE FALSE 0 -0.174 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 1 NA ACG C,T 1.655e-05 14:67573895 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 splice_region_variant 0.442678 0.19324 0.0141 0.078448 0.6975248 0.310561 0.0006602846 FALSE 2.43698e-05 ENSE00001668416_018 ENSE00001668416 018 14 68040471 68040640 + 47 87 36 G A 68040613 778 143 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACACTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 67573895 67573896 67573896 downstr_intron 9 1.257143 AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACACTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA mutant 23 31 1 1 1 1180 857 0.9994757 1 0.9997378 0.9634634 0.9908356 0.8973614 0.8996904 0.03653656 0.009164363 0.1021143 0.1003096 0.9771495 0.8985259 0.02285046 0.1012119 0.07836145 FALSE FALSE 0 -0.279 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000561370 rs374493058 1 NA A:0 A:0.0005 CGC G,A 0.0003805 14:67573896 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003684431 intron_variant -0.018875 0.27436 0.05583 0.078448 0.7471186 0.310561 0.0006602846 FALSE 0.000333109 ENSE00001668416_BRK ENSE00001668416 BRK 14 68040471 68040640 + 47 87 36 A,G; T,T NA NA NA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACTTAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGCCGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA 67573753 67573923 NA NA NA NA NA NA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACTTAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGCCGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA AAAGGCTCCACATTCAGTGGCTCTCCTCTCCAATACTTTCTTTACAGAGTGATGTCATCCGGAAACCTCAAGGCCAAGTGGATCTGAACTCCCGCTGCCAAATTGTTCGAGGGGAGGGTTCACAGACGTTTCAGGTGAGCACGCTCCTGGCTGCTAGTATTTTAAACAGA control 110 67 0 0 0 547 60 0.02595186 0 0.01297593 0.9634634 0.9908356 0.8973614 0.8996904 -0.9634634 -0.9908356 -0.8714096 -0.8996904 0.9771495 0.8985259 -0.9771495 -0.88555 0.09159954 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003684431 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001668703_000 ENSE00001668703 000 X 21519582 21519751 + 56 69 45 NA NA NA NA NA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA 21501463 21501633 NA NA NA NA NA NA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA natural 21 14 0.7860588 0.974769 0.8804139 1592 1378 0.9551079 0.9912803 0.9731941 0.7860588 0.974769 0.9551079 0.9912803 0 0 0 0 0.8804139 0.9731941 0 0 0 FALSE FALSE NA NA NA NA NA CNKSR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNKSR2 NA NA NA ENSG00000149970 ENSE00003617203 NA NA NA NA NA NA NA 0.999748 TRUE NA ENSE00001668703_004 ENSE00001668703 004 X 21519582 21519751 + 56 69 45 T C 21519612 244 31 CAGGAAATGACTGATAAAATTTATGTTCTTCATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA 21501463 21501633 21501493 21501494 21501494 upstr_intron -26 -0.4464286 CAGGAAATGACTGATAAAATTTATGTTCTTCATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA mutant NA NA NA NA NA 137 82 0.9766727 0.9819122 0.9792924 0.7860588 0.974769 0.9551079 0.9912803 NA NA 0.02156478 -0.009368148 0.8804139 0.9731941 NA 0.006098315 NA FALSE NA 1 1.73 . intron_variant MODIFIER CNKSR2 HGNC 19701 ENST00000379510 7/21 1 NA TTA T,C 1.65e-05 X:21501494 CNKSR2 HGNC Symbol protein_coding 281894 ENSG00000149970 ENSE00003617203 intron_variant 0.566269 0.98056 0.93203 0 0.4446971 0.137797 0.999748 TRUE NA ENSE00001668703_010 ENSE00001668703 010 X 21519582 21519751 + 56 69 45 T C 21519710 250 129 CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTACGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA 21501463 21501633 21501591 21501592 21501592 downstr_intron 4 1.090909 CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTACGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA mutant NA NA NA NA NA 232 42 0.9899403 1 0.9949702 0.7860588 0.974769 0.9551079 0.9912803 NA NA 0.03483246 0.008719697 0.8804139 0.9731941 NA 0.02177608 NA FALSE NA 1 2.263 . splice_region_variant&intron_variant LOW CNKSR2 HGNC 19701 ENST00000379510 8/21 1 NA ATG T,C 3.3e-05 X:21501592 CNKSR2 HGNC Symbol protein_coding 281894 ENSG00000149970 ENSE00003617203 splice_region_variant 1.527538 0.97867 0.87559 0 0.914016 0.439708 0.999748 TRUE 1.29421e-05 ENSE00001668703_012 ENSE00001668703 012 X 21519582 21519751 + 56 69 45 G C 21519726 252 145 CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAACAGTCAGTGGGAGGAACTAATTTTGA 21501463 21501633 21501607 21501608 21501608 downstr_intron 20 1.454545 CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAACAGTCAGTGGGAGGAACTAATTTTGA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA mutant NA NA NA NA NA 34 37 0.9954618 1 0.9977309 0.7860588 0.974769 0.9551079 0.9912803 NA NA 0.04035393 0.008719697 0.8804139 0.9731941 NA 0.02453682 NA FALSE NA 1 1.609 . intron_variant MODIFIER CNKSR2 HGNC 19701 ENST00000379510 8/21 rs536652526 1 NA AGA G,C 8.258e-06 X:21501608 CNKSR2 HGNC Symbol protein_coding 281894 ENSG00000149970 ENSE00003617203 intron_variant 2.073018 0.9825 0.88476 0 0.867758 0.432062 0.999748 TRUE 2.24856e-05 ENSE00001668703_BRK ENSE00001668703 BRK X 21519582 21519751 + 56 69 45 A,G; T,T NA NA NA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCTTTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGCCATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA 21501463 21501633 NA NA NA NA NA NA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCTTTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGCCATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA CAGGAAATGACTGATAAAATTTATGTTCTTTATCGTTTCTTTTATATTAAATTCAGTCACCTGCAGATCGGTGCAAGAAAATCCATGCTGGCGATGAAGTGATTCAAGTTAATCATCAGACTGTGGTATGTATAATTAACTTAAGAGTCAGTGGGAGGAACTAATTTTGA control 174 125 0 0 0 102 262 0 0 0 0.7860588 0.974769 0.9551079 0.9912803 -0.7860588 -0.974769 -0.9551079 -0.9912803 0.8804139 0.9731941 -0.8804139 -0.9731941 0.09278015 TRUE TRUE NA NA NA NA NA CNKSR2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNKSR2 NA NA NA ENSG00000149970 ENSE00003617203 NA NA NA NA NA NA NA 0.999748 TRUE NA ENSE00001668796_000 ENSE00001668796 000 12 48381364 48381533 - 30 99 41 NA NA NA NA NA CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG 47987580 47987750 NA NA NA NA NA NA CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG natural 29 11 0.9012956 0.9903037 0.9457997 4145 1182 0.9833164 0.8948013 0.9390589 0.9012956 0.9903037 0.9833164 0.8948013 0 0 0 0 0.9457997 0.9390589 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003598556 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001668796_005 ENSE00001668796 005 12 48381364 48381533 - 30 99 41 G A 48381415 1212 119 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCTCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG 47987580 47987750 47987631 47987632 47987632 exon -22 0.7878788 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCTCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG mutant NA NA NA NA NA 590 56 0.9548586 0.9732677 0.9640632 0.9012956 0.9903037 0.9833164 0.8948013 NA NA -0.02845782 0.07846644 0.9457997 0.9390589 NA 0.02500431 NA FALSE NA 0.242 -0.151 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GGG G,A 8.24e-06 12:47987632 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003598556 synonymous_variant 1.193957 0.96738 0.53876 0.615465 0.728715 0 1 TRUE 8.25893e-06 ENSE00001668796_006 ENSE00001668796 006 12 48381364 48381533 - 30 99 41 G A 48381425 1213 109 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTATTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG 47987580 47987750 47987641 47987642 47987642 exon -32 0.6868687 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTATTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG mutant NA NA NA NA NA 957 266 1 0.9980839 0.999042 0.9012956 0.9903037 0.9833164 0.8948013 NA NA 0.01668356 0.1032827 0.9457997 0.9390589 NA 0.05998311 NA FALSE NA 0.006 2.073 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA AGT G,A 8.239e-06 12:47987642 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003598556 missense_variant 2.354483 0.96638 0.78209 0.615465 0.9913153 0 1 TRUE 8.24375e-06 ENSE00001668796_008 ENSE00001668796 008 12 48381364 48381533 - 30 99 41 G A 48381439 1215 95 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGTGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG 47987580 47987750 47987655 47987656 47987656 exon -46 0.5454545 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGTGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG mutant NA NA NA NA NA 25 189 1 0.9737916 0.9868958 0.9012956 0.9903037 0.9833164 0.8948013 NA NA 0.01668356 0.07899037 0.9457997 0.9390589 NA 0.04783697 NA FALSE NA 0 -7.528 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs201575114 1 A:0.0012 A:0.0008 A:0.0058 NA A:0 A:0.001 A:0 A:0.0005 A:0.0001 CGC G,A 0.000379 12:47987656 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003598556 synonymous_variant 1.009321 0.08448 0.01073 0.615465 0.791565 0 1 TRUE 0.000374698 ENSE00001668796_009 ENSE00001668796 009 12 48381364 48381533 - 30 99 41 C T 48381440 1216 94 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCACGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG 47987580 47987750 47987656 47987657 47987657 exon -47 0.5353535 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCACGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG mutant NA NA NA NA NA 126 36 0.9507371 1 0.9753685 0.9012956 0.9903037 0.9833164 0.8948013 NA NA -0.03257935 0.1051987 0.9457997 0.9390589 NA 0.03630969 NA FALSE NA 0.963 2.499 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs201953356&COSM1512118&COSM1512117 1 NA GCG C,T 7.415e-05 12:47987657 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003598556 missense_variant 5.805351 0.98928 0.70229 0.615465 0.9979582 0 1 TRUE 6.99882e-05 ENSE00001668796_011 ENSE00001668796 011 12 48381364 48381533 - 30 99 41 A G 48381466 1218 68 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGCGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG 47987580 47987750 47987682 47987683 47987683 exon 27 0.2727273 CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGCGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG CCTCTCTTCTTCTTCATTTCATCCTCCCTGTCTCTTCCCAGGGTGAAGCCGGCCCCACTGGTGCCCGTGGTCCTGAAGGTGCTCAAGGTCCTCGCGGTGAACCTGGTACTCCTGGGTCCCCTGGGCCTGCTGGTGCCTCCGTAAGTGCAGCTTCTCTTTGGCCTGGGGGG mutant NA NA NA NA NA 655 371 1 0.9969686 0.9984843 0.9012956 0.9903037 0.9833164 0.8948013 NA NA 0.01668356 0.1021674 0.9457997 0.9390589 NA 0.05942546 NA FALSE NA 0.002 -0.696 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CAC A,G 8.24e-06 12:47987683 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003598556 synonymous_variant 0.556112 0.95708 0.30951 0.615465 0.7518743 0 1 TRUE NA ENSE00001669553_000 ENSE00001669553 000 1 151665840 151666009 + 60 60 50 NA NA NA NA NA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 NA NA NA NA NA NA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA natural 907 1269 0.8634096 0.8465008 0.8549552 3817 2894 0.8340773 0.8136587 0.823868 0.8634096 0.8465008 0.8340773 0.8136587 0 0 0 0 0.8549552 0.823868 0 0 0 FALSE FALSE NA NA NA NA NA SNX27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNX27 NA NA NA ENSG00000143376 ENSE00003511664 NA NA NA NA NA NA NA 0.9998848 TRUE NA ENSE00001669553_001 ENSE00001669553 001 1 151665840 151666009 + 60 60 50 G A 151665852 3501 13 GCACAGTCCTGAAATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693375 151693376 151693376 upstr_intron -48 -0.7833333 GCACAGTCCTGAAATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 114 105 0.9321477 0.8832951 0.9077214 2028 95 0.9633141 0.9568073 0.9600607 0.8634096 0.8465008 0.8340773 0.8136587 0.06873808 0.03679429 0.1292368 0.1431486 0.8549552 0.823868 0.05276618 0.1361927 0.08342651 FALSE FALSE 0.063 0.795 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 10/11 1 NA AGA G,A 8.404e-06 1:151693376 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant 0.376764 0.40573 0.21759 0.093477 0.5403711 0.0750417 0.9998848 TRUE 4.16178e-06 ENSE00001669553_002 ENSE00001669553 002 1 151665840 151666009 + 60 60 50 A G 151665853 3502 14 GCACAGTCCTGAGGTGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693376 151693377 151693377 upstr_intron -47 -0.7666667 GCACAGTCCTGAGGTGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 48 62 0.85 0.85 0.85 NA NA NA NA NA 0.8634096 0.8465008 0.8340773 0.8136587 -0.01340959 0.003499208 NA NA 0.8549552 0.823868 -0.004955193 NA NA NA FALSE 0.061 0.287 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 10/11 1 NA GAT A,G 8.404e-06 1:151693377 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant -0.057283 0.16924 0.00218 0.093477 0.670224 0.0750417 0.9998848 TRUE 8.32251e-06 ENSE00001669553_003 ENSE00001669553 003 1 151665840 151666009 + 60 60 50 G A 151665855 3503 16 GCACAGTCCTGAGATACCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693378 151693379 151693379 upstr_intron -45 -0.7333333 GCACAGTCCTGAGATACCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 139 182 0.8340637 0.85 0.8420319 902 516 0.9388129 0.931877 0.935345 0.8634096 0.8465008 0.8340773 0.8136587 -0.02934585 0.003499208 0.1047356 0.1182183 0.8549552 0.823868 -0.01292332 0.111477 0.1244003 FALSE FALSE 0 0.099 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 10/11 1 NA TGC G,A 3.362e-05 1:151693379 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant -0.04253 0.26201 0.09758 0.160075 0.6331422 0.168695 0.9998848 TRUE 2.91276e-05 ENSE00001669553_004 ENSE00001669553 004 1 151665840 151666009 + 60 60 50 C G 151665856 3504 17 GCACAGTCCTGAGATGGCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693379 151693380 151693380 upstr_intron -44 -0.7166667 GCACAGTCCTGAGATGGCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant NA NA NA NA NA 4978 263 0.8176626 0.8779594 0.847811 0.8634096 0.8465008 0.8340773 0.8136587 NA NA -0.01641474 0.06430073 0.8549552 0.823868 NA 0.023943 NA FALSE NA 0 0.524 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 10/11 1 NA GCC C,G 8.404e-06 1:151693380 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant 0.287557 0.37938 0.14592 0.160075 0.4312849 0.16525 0.9998848 TRUE 8.32307e-06 ENSE00001669553_005 ENSE00001669553 005 1 151665840 151666009 + 60 60 50 C A 151665860 3505 21 GCACAGTCCTGAGATGCCTGATCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693383 151693384 151693384 upstr_intron -40 -0.65 GCACAGTCCTGAGATGCCTGATCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 23 10 0.85 0.85 0.85 1597 1584 0.9388906 0.7501327 0.8445117 0.8634096 0.8465008 0.8340773 0.8136587 -0.01340959 0.003499208 0.1048133 -0.06352594 0.8549552 0.823868 -0.004955193 0.02064369 0.02559889 FALSE FALSE 0 -0.583 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 10/11 rs202024310 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GCT C,A 1.647e-05 1:151693384 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant 0.132958 0.26819 0.04235 0.160075 0.4293345 0.166158 0.9998848 TRUE 2.43754e-05 ENSE00001669553_006 ENSE00001669553 006 1 151665840 151666009 + 60 60 50 T C 151665863 3506 24 GCACAGTCCTGAGATGCCTGCTCCTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693386 151693387 151693387 upstr_intron -37 -0.6 GCACAGTCCTGAGATGCCTGCTCCTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 64 153 0.8413878 0.85 0.8456939 1506 497 0.8308893 0.8606769 0.8457831 0.8634096 0.8465008 0.8340773 0.8136587 -0.02202184 0.003499208 -0.003188037 0.04701817 0.8549552 0.823868 -0.009261317 0.02191507 0.03117638 FALSE FALSE 0 -0.398 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 10/11 rs547649312 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTT T,C 8.236e-06 1:151693387 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant -0.128918 0.20671 0.01562 0.093477 0.3440375 0.170202 0.9998848 TRUE 4.06154e-06 ENSE00001669553_007 ENSE00001669553 007 1 151665840 151666009 + 60 60 50 C T 151665885 3507 46 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACTACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693408 151693409 151693409 upstr_intron -15 -0.2333333 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACTACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 18 83 0.981522 0.8698439 0.9256829 1245 1129 0.961521 0.9697297 0.9656254 0.8634096 0.8465008 0.8340773 0.8136587 0.1181124 0.02334309 0.1274437 0.156071 0.8549552 0.823868 0.07072774 0.1417574 0.07102963 FALSE FALSE 0.001 0.175 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 10/11 1 NA CCA C,T 8.236e-06 1:151693409 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant 0.518689 0.26499 0.01202 0.093477 0.6430979 0.13619 0.9998848 TRUE NA ENSE00001669553_008 ENSE00001669553 008 1 151665840 151666009 + 60 60 50 T C 151665892 3508 53 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTCTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693415 151693416 151693416 upstr_intron -8 -0.1166667 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTCTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 155 290 0.85 0.85 0.85 769 466 0.8180877 0.7936146 0.8058512 0.8634096 0.8465008 0.8340773 0.8136587 -0.01340959 0.003499208 -0.01598957 -0.02004408 0.8549552 0.823868 -0.004955193 -0.01801682 0.01306163 FALSE FALSE 0.007 0.944 . splice_region_variant&intron_variant&NMD_transcript_variant LOW SNX27 HGNC 20073 ENST00000368841 10/11 rs375601770 1 NA C:0 C:0.0001 TTT T,C 9.06e-05 1:151693416 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 splice_region_variant 0.81292 0.44016 0.27259 0.093477 0.8206973 0.405117 0.9998848 TRUE 8.52743e-05 ENSE00001669553_009 ENSE00001669553 009 1 151665840 151666009 + 60 60 50 A G 151665904 3509 65 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAGTTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693427 151693428 151693428 exon 5 0.08333333 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAGTTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant NA NA NA NA NA 72 65 0.8804624 1 0.9402312 0.8634096 0.8465008 0.8340773 0.8136587 NA NA 0.0463851 0.1863413 0.8549552 0.823868 NA 0.1163632 NA FALSE NA 1 8.481 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/12 1 NA AAT A,G 1.647e-05 1:151693428 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 missense_variant 3.654089 0.97816 0.96067 0.712529 0.9116804 0 0.9998848 TRUE 1.62437e-05 ENSE00001669553_010 ENSE00001669553 010 1 151665840 151666009 + 60 60 50 C T 151665923 3510 84 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTTGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693446 151693447 151693447 exon 24 0.4 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTTGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 144 141 0.85 0.8187491 0.8343745 126 1663 0.8561362 0.760393 0.8082646 0.8634096 0.8465008 0.8340773 0.8136587 -0.01340959 -0.02775174 0.02205888 -0.05326569 0.8549552 0.823868 -0.02058067 -0.01560341 0.00497726 FALSE FALSE 0.724 -0.151 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/12 COSM3418044&COSM3418043 1 NA TCG C,T 1.647e-05 1:151693447 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 synonymous_variant 2.301348 0.92457 0.60564 0.712529 0.8315699 0 0.9998848 TRUE 8.12123e-06 ENSE00001669553_011 ENSE00001669553 011 1 151665840 151666009 + 60 60 50 A T 151665925 3511 86 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGTGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693448 151693449 151693449 exon 26 0.4333333 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGTGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 128 357 0.85 0.85 0.85 428 1851 0.9573844 0.8477517 0.902568 0.8634096 0.8465008 0.8340773 0.8136587 -0.01340959 0.003499208 0.1233071 0.034093 0.8549552 0.823868 -0.004955193 0.07870004 0.08365524 FALSE FALSE 1 8.481 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/12 1 NA GAG A,T 8.236e-06 1:151693449 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 missense_variant 5.806198 0.97676 0.9899 0.712529 0.9947732 0 0.9998848 TRUE 4.06058e-06 ENSE00001669553_012 ENSE00001669553 012 1 151665840 151666009 + 60 60 50 G A 151665929 3512 90 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGAGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693452 151693453 151693453 exon 30 0.5 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGAGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 132 308 0.8416501 0.85 0.8458251 688 947 0.9750283 0.9740581 0.9745432 0.8634096 0.8465008 0.8340773 0.8136587 -0.02175945 0.003499208 0.1409511 0.1603995 0.8549552 0.823868 -0.009130122 0.1506753 0.1598054 FALSE FALSE 1 2.077 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/12 1 NA GGG G,A 8.236e-06 1:151693453 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 synonymous_variant 1.301949 0.91227 0.95351 0.712529 0.8235988 0 0.9998848 TRUE NA ENSE00001669553_013 ENSE00001669553 013 1 151665840 151666009 + 60 60 50 G A 151665939 3513 100 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCAAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693462 151693463 151693463 exon -21 0.6666667 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCAAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 107 265 0.8132884 0.85 0.8316442 820 233 0.8397778 0.8435155 0.8416466 0.8634096 0.8465008 0.8340773 0.8136587 -0.05012121 0.003499208 0.005700514 0.0298568 0.8549552 0.823868 -0.023311 0.01777866 0.04108966 FALSE FALSE 1 8.972 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/12 COSM4135567&COSM4135566 1 NA CGA G,A 8.236e-06 1:151693463 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 missense_variant 7.751422 0.98386 0.99368 0.712529 0.999348 0 0.9998848 TRUE 8.1215e-06 ENSE00001669553_014 ENSE00001669553 014 1 151665840 151666009 + 60 60 50 A G 151665951 3514 112 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGGGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693474 151693475 151693475 exon -9 0.8666667 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGGGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant NA NA NA NA NA 868 304 0.9105126 0.9391156 0.9248141 0.8634096 0.8465008 0.8340773 0.8136587 NA NA 0.07643529 0.125457 0.8549552 0.823868 NA 0.1009461 NA FALSE NA 1 4.331 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/12 1 NA GAG A,G 8.236e-06 1:151693475 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 missense_variant 6.867703 0.98081 0.97436 0.712529 0.996362 0 0.9998848 TRUE 4.06078e-06 ENSE00001669553_015 ENSE00001669553 015 1 151665840 151666009 + 60 60 50 G A 151665952 3515 113 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAAAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693475 151693476 151693476 exon -8 0.8833333 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAAAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 43 21 0.85 0.85 0.85 355 940 0.9379791 0.8784374 0.9082083 0.8634096 0.8465008 0.8340773 0.8136587 -0.01340959 0.003499208 0.1039018 0.06477874 0.8549552 0.823868 -0.004955193 0.08434029 0.08929548 FALSE FALSE 1 7.173 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/12 1 NA AGA G,A 4.942e-05 1:151693476 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 missense_variant 4.750914 0.97049 0.9786 0.712529 0.9817421 0 0.9998848 TRUE 3.24873e-05 ENSE00001669553_016 ENSE00001669553 016 1 151665840 151666009 + 60 60 50 C T 151665975 3516 136 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTTCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693498 151693499 151693499 downstr_intron 16 1.326531 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTTCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 30 17 0.85 0.85 0.85 306 1242 0.9435762 0.8688954 0.9062358 0.8634096 0.8465008 0.8340773 0.8136587 -0.01340959 0.003499208 0.1094989 0.05523671 0.8549552 0.823868 -0.004955193 0.0823678 0.08732299 FALSE FALSE 0 -0.04 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/11 1 NA TCC C,T 8.236e-06 1:151693499 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant -0.069373 0.18269 0.01776 0.093477 0.6505775 0.0998861 0.9998848 TRUE 8.12183e-06 ENSE00001669553_017 ENSE00001669553 017 1 151665840 151666009 + 60 60 50 T C 151665977 3517 138 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCCTGAATTGACCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693500 151693501 151693501 downstr_intron 18 1.367347 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCCTGAATTGACCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 281 318 0.8675685 0.85 0.8587842 93 1317 0.9382826 0.8354803 0.8868815 0.8634096 0.8465008 0.8340773 0.8136587 0.004158857 0.003499208 0.1042053 0.02182164 0.8549552 0.823868 0.003829033 0.06301347 0.05918444 FALSE FALSE 0.001 0.488 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/11 1 NA CTT T,C 1.647e-05 1:151693501 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant 0.04907 0.36891 0.25026 0.093477 0.4252826 0.0998861 0.9998848 TRUE 1.21829e-05 ENSE00001669553_018 ENSE00001669553 018 1 151665840 151666009 + 60 60 50 C T 151665986 3518 147 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGATCTTTTCATCTTTTTGTTTCTTTA 151693363 151693533 151693509 151693510 151693510 downstr_intron 27 1.55102 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGATCTTTTCATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 68 50 0.85 0.85 0.85 1240 1718 0.9613411 0.9635221 0.9624316 0.8634096 0.8465008 0.8340773 0.8136587 -0.01340959 0.003499208 0.1272638 0.1498634 0.8549552 0.823868 -0.004955193 0.1385636 0.1435188 FALSE FALSE 0 -0.641 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/11 rs376159605 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0002 T:0 ACC C,T 8.237e-06 1:151693510 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant 0.802179 0.28856 0.03967 0.093477 0.690645 0.0998861 0.9998848 TRUE NA ENSE00001669553_019 ENSE00001669553 019 1 151665840 151666009 + 60 60 50 T A 151665991 3519 152 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTACATCTTTTTGTTTCTTTA 151693363 151693533 151693514 151693515 151693515 downstr_intron 32 1.653061 GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTACATCTTTTTGTTTCTTTA GCACAGTCCTGAGATGCCTGCTCTTGAGAAGTTAGTGAGTGTCACCACCTTTTTTTTCAGTTCAATTACATGCATGAGTGCTTCGAGAGGGTGTTCTGCGAGCTCAAGTGGAGAAAAGAGGTAATTCTGAACAGTCCTTGAATTGACCTTTTCATCTTTTTGTTTCTTTA mutant 318 515 0.8482744 0.7109934 0.7796339 730 2577 0.8167301 0.8 0.808365 0.8634096 0.8465008 0.8340773 0.8136587 -0.01513519 -0.1355074 -0.0173472 -0.01365868 0.8549552 0.823868 -0.07532128 -0.01550294 0.05981833 FALSE FALSE 0.01 1.678 . intron_variant&NMD_transcript_variant MODIFIER SNX27 HGNC 20073 ENST00000368841 11/11 1 NA TTC T,A 4.118e-05 1:151693515 SNX27 HGNC Symbol protein_coding 87085 ENSG00000143376 ENSE00003511664 intron_variant 0.66819 0.41635 0.386 0.093477 0.7395749 0.0998861 0.9998848 TRUE 3.65494e-05 ENSE00001669897_000 ENSE00001669897 000 6 33144716 33144885 - 53 54 63 NA NA NA NA NA GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 NA NA NA NA NA NA GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG natural 1630 2290 0.8493272 0.8471698 0.8482485 4668 3511 0.8000849 0.7886752 0.7943801 0.8493272 0.8471698 0.8000849 0.7886752 0 0 0 0 0.8482485 0.7943801 0 0 0 FALSE FALSE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001669897 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001669897_001 ENSE00001669897 001 6 33144716 33144885 - 53 54 63 G A 33144730 881 156 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGTCTTCCACCCCAGTG 33176938 33177108 33176952 33176953 33176953 downstr_intron 39 1.75 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGTCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 389 1213 0.8268143 0.8333073 0.8300608 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.02672933 0.04463209 0.8482485 0.7943801 NA 0.03568071 NA FALSE NA 0 -0.302 rs114654584 intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 rs114654584 1 A:0.0006 A:0 A:0 NA A:0 A:0.003 A:0 A:0.0003 A:0.0007 GGC G,A 0.00061 6:33176953 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant 0.129111 0.0831 0.01497 0.053691 0.6000575 0.0762098 0.9999993 TRUE 0.000682514 ENSE00001669897_002 ENSE00001669897 002 6 33144716 33144885 - 53 54 63 G A 33144736 882 150 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCTCTTGGCCTTCCACCCCAGTG 33176938 33177108 33176958 33176959 33176959 downstr_intron 33 1.634615 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCTCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 888 3100 0.7977434 0.8247574 0.8112504 0.8493272 0.8471698 0.8000849 0.7886752 NA NA -0.002341511 0.03608219 0.8482485 0.7943801 NA 0.01687034 NA FALSE NA 0 -0.89 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 1 NA GGG G,A 8.243e-06 6:33176959 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant 0.641783 0.12714 0.01634 0.053691 0.8206496 0.0436289 0.9999993 TRUE NA ENSE00001669897_003 ENSE00001669897 003 6 33144716 33144885 - 53 54 63 C T 33144748 883 138 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCAAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33176970 33176971 33176971 downstr_intron 21 1.403846 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCAAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 481 739 0.8 0.8036051 0.8018026 0.8493272 0.8471698 0.8000849 0.7886752 NA NA -8.492133e-05 0.0149299 0.8482485 0.7943801 NA 0.007422489 NA FALSE NA 0 -1.344 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 rs369055608 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0003 T:0 TCG C,T 4.123e-05 6:33176971 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant -0.343118 0.0729 0.01098 0.053691 0.6154438 0.0672918 0.9999993 TRUE 2.59578e-05 ENSE00001669897_004 ENSE00001669897 004 6 33144716 33144885 - 53 54 63 G A 33144749 884 137 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCTGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33176971 33176972 33176972 downstr_intron 20 1.384615 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCTGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 149 134 0.6734718 0.8336935 0.7535826 0.8493272 0.8471698 0.8000849 0.7886752 NA NA -0.1266131 0.04501822 0.8482485 0.7943801 NA -0.04079745 NA FALSE NA 0 -0.77 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 1 NA CGG G,A 8.246e-06 6:33176972 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant -0.102283 0.08378 0.00044 0.053691 0.2827605 0.0672918 0.9999993 TRUE 1.29395e-05 ENSE00001669897_005 ENSE00001669897 005 6 33144716 33144885 - 53 54 63 G T 33144757 885 129 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACACCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33176979 33176980 33176980 downstr_intron 12 1.230769 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACACCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 1002 1715 0.8 0.7387506 0.7693753 0.8493272 0.8471698 0.8000849 0.7886752 NA NA -8.492133e-05 -0.04992462 0.8482485 0.7943801 NA -0.02500477 NA FALSE NA 0 -0.25 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 1 NA GGG G,T 1.652e-05 6:33176980 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant 0.163226 0.17139 0.06715 0.053691 0.6954671 0.116125 0.9999993 TRUE NA ENSE00001669897_006 ENSE00001669897 006 6 33144716 33144885 - 53 54 63 C G 33144760 886 126 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGCACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33176982 33176983 33176983 downstr_intron 9 1.173077 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGCACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 2011 487 0.8971387 0.9184311 0.9077849 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.09705373 0.1297559 0.8482485 0.7943801 NA 0.1134048 NA FALSE NA 0.001 -1.414 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 1 NA TCC C,G 8.266e-06 6:33176983 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant 0.898053 0.18241 0.00696 0.053691 0.5994207 0.128762 0.9999993 TRUE 4.27899e-06 ENSE00001669897_007 ENSE00001669897 007 6 33144716 33144885 - 53 54 63 C T 33144761 887 125 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGAGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33176983 33176984 33176984 downstr_intron 8 1.153846 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGAGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 453 258 0.9533308 0.9560606 0.9546957 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.1532459 0.1673854 0.8482485 0.7943801 NA 0.1603157 NA FALSE NA 0.147 1.067 . splice_region_variant&intron_variant LOW COL11A2 HGNC 2187 ENST00000395197 24/64 1 NA CCC C,T 8.267e-06 6:33176984 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 splice_region_variant 0.75894 0.16138 0.01257 0.053691 0.754244 0.184201 0.9999993 TRUE NA ENSE00001669897_008 ENSE00001669897 008 6 33144716 33144885 - 53 54 63 G A 33144770 888 116 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCTGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33176992 33176993 33176993 exon -2 0.9814815 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCTGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 780 755 0.8216068 0.9147702 0.8681885 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.02152188 0.126095 0.8482485 0.7943801 NA 0.07380844 NA FALSE NA 1 3.248 rs144992893 missense_variant&splice_region_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 24/65 rs144992893 1 possibly_damaging(0.844) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGG G,A 4.97e-05 6:33176993 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 missense_variant 6.952559 0.98933 0.87921 0.615465 0.9987369 0 0.9999993 TRUE 5.52388e-05 ENSE00001669897_009 ENSE00001669897 009 6 33144716 33144885 - 53 54 63 G A 33144774 889 112 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGATCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33176996 33176997 33176997 exon -6 0.9074074 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGATCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 495 511 0.8 0.8011305 0.8005653 0.8493272 0.8471698 0.8000849 0.7886752 NA NA -8.492133e-05 0.01245527 0.8482485 0.7943801 NA 0.006185176 NA FALSE NA 1 4.61 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 24/65 1 benign(0.352) NA GGT G,A 1.658e-05 6:33176997 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 missense_variant 2.844469 0.98232 0.76062 0.615465 0.9990452 0 0.9999993 TRUE 1.27024e-05 ENSE00001669897_011 ENSE00001669897 011 6 33144716 33144885 - 53 54 63 G C 33144784 891 102 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGGTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177006 33177007 33177007 exon -16 0.7222222 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGGTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 569 835 0.9594167 0.9630193 0.961218 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.1593318 0.174344 0.8482485 0.7943801 NA 0.1668379 NA FALSE NA 0.199 0.041 . synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 24/65 1 NA AGC G,C 8.321e-06 6:33177007 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 splice_donor_variant 0.648312 0.96505 0.36599 0.615465 0.9128072 0 0.9999993 TRUE 4.21085e-06 ENSE00001669897_012 ENSE00001669897 012 6 33144716 33144885 - 53 54 63 C T 33144785 892 101 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGACTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177007 33177008 33177008 exon -17 0.7037037 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGACTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 1145 101 0.9936555 0.9867675 0.9902115 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.1935706 0.1980923 0.8482485 0.7943801 NA 0.1958314 NA FALSE NA 1 2.886 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 24/65 1 probably_damaging(0.998) NA GCC C,T 8.32e-06 6:33177008 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 splice_donor_variant 6.703204 0.9891 0.85528 0.615465 0.9946758 0 0.9999993 TRUE NA ENSE00001669897_013 ENSE00001669897 013 6 33144716 33144885 - 53 54 63 C T 33144795 893 91 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCAGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177017 33177018 33177018 exon -27 0.5185185 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCAGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 423 267 0.8171585 0.8201122 0.8186354 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.0170736 0.03143695 0.8482485 0.7943801 NA 0.02425528 NA FALSE NA 1 7.212 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 24/65 1 probably_damaging(1) NA CCG C,T 8.332e-06 6:33177018 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 missense_variant 7.431467 0.9891 0.99022 0.516011 0.9989601 0 0.9999993 TRUE 1.26146e-05 ENSE00001669897_014 ENSE00001669897 014 6 33144716 33144885 - 53 54 63 G A 33144796 894 90 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCTGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177018 33177019 33177019 exon 27 0.5 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCTGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 303 53 0.8 0.9474257 0.8737129 0.8493272 0.8471698 0.8000849 0.7886752 NA NA -8.492133e-05 0.1587505 0.8482485 0.7943801 NA 0.07933279 NA FALSE NA 0.736 -0.462 . synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 24/65 1 NA CGG G,A 1.668e-05 6:33177019 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 synonymous_variant 1.75912 0.94738 0.05135 0.516011 0.6663949 0 0.9999993 TRUE 4.2095e-05 ENSE00001669897_015 ENSE00001669897 015 6 33144716 33144885 - 53 54 63 G T 33144806 895 80 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCAAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177028 33177029 33177029 exon 17 0.3148148 GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCAAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 2678 295 0.9663608 0.9838663 0.9751135 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.1662759 0.195191 0.8482485 0.7943801 NA 0.1807334 NA FALSE NA 1 4.268 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 24/65 1 benign(0.113) NA TGG G,T 8.357e-06 6:33177029 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 missense_variant 4.895328 0.98865 0.96608 0.516011 0.9814426 0 0.9999993 TRUE 3.35838e-05 ENSE00001669897_018 ENSE00001669897 018 6 33144716 33144885 - 53 54 63 G A 33144855 898 31 GGATTTTGTCTGTGTCCAGACATGACCCCTTTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177077 33177078 33177078 upstr_intron -33 -0.5079365 GGATTTTGTCTGTGTCCAGACATGACCCCTTTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 400 222 0.8 0.8 0.8 0.8493272 0.8471698 0.8000849 0.7886752 NA NA -8.492133e-05 0.01132476 0.8482485 0.7943801 NA 0.005619921 NA FALSE NA 0 -0.04 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 23/64 1 NA AGA G,A 8.407e-06 6:33177078 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant -0.089388 0.17714 0.02161 0.053691 0.655931 0.0832456 0.9999993 TRUE 4.16677e-06 ENSE00001669897_019 ENSE00001669897 019 6 33144716 33144885 - 53 54 63 G A 33144859 899 27 GGATTTTGTCTGTGTCCAGACATGACTCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177081 33177082 33177082 upstr_intron -37 -0.5714286 GGATTTTGTCTGTGTCCAGACATGACTCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 836 926 0.9385113 0.9460903 0.9423008 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.1384264 0.1574151 0.8482485 0.7943801 NA 0.1479207 NA FALSE NA 0 -0.351 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 23/64 1 NA GGG G,A 8.408e-06 6:33177082 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant 0.272488 0.16498 0.01679 0.053691 0.7807395 0.132036 0.9999993 TRUE 4.16646e-06 ENSE00001669897_020 ENSE00001669897 020 6 33144716 33144885 - 53 54 63 T A 33144861 900 25 GGATTTTGTCTGTGTCCAGACATGTCCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177083 33177084 33177084 upstr_intron -39 -0.6031746 GGATTTTGTCTGTGTCCAGACATGTCCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 794 1723 0.797317 0.7999275 0.7986222 0.8493272 0.8471698 0.8000849 0.7886752 NA NA -0.002767961 0.01125229 0.8482485 0.7943801 NA 0.004242166 NA FALSE NA 0 -0.728 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 23/64 rs377292380 1 NA A:0 A:0.0002 GTC T,A 8.407e-06 6:33177084 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant 0.663033 0.1732 0.01165 0.053691 0.6577857 0.0832456 0.9999993 TRUE NA ENSE00001669897_022 ENSE00001669897 022 6 33144716 33144885 - 53 54 63 G T 33144870 902 16 GGATTTTGTCTGTGTACAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 33177092 33177093 33177093 upstr_intron -48 -0.7460317 GGATTTTGTCTGTGTACAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG mutant NA NA NA NA NA 274 994 0.9022592 0.9495454 0.9259023 0.8493272 0.8471698 0.8000849 0.7886752 NA NA 0.1021743 0.1608702 0.8482485 0.7943801 NA 0.1315222 NA FALSE NA 0 0.181 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 23/64 1 NA GGA G,T 1.681e-05 6:33177093 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001669897 intron_variant 0.397244 0.1576 0.01624 0.053691 0.7967923 0.0443366 0.9999993 TRUE 1.2477e-05 ENSE00001669897_BRK ENSE00001669897 BRK 6 33144716 33144885 - 53 54 63 A,G; T,T NA NA NA GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCTTGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGCCGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG 33176938 33177108 NA NA NA NA NA NA GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCTTGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGCCGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG GGATTTTGTCTGTGTCCAGACATGACCCCTCTAGTGACCCTGAGCCTCTTTGTCTTCCTGCAGGGTCCTCAAGGGAAGCCAGGGCTCCCCGGCATGCCTGGCTCAGACGGACCCCCGGTGAGTGGGACCCCACTTCCGAATCCAGTTCCCCTTGGCCTTCCACCCCAGTG control 82 108 0 0 0 47 292 0 0.1448359 0.07241797 0.8493272 0.8471698 0.8000849 0.7886752 -0.8493272 -0.8471698 -0.8000849 -0.6438393 0.8482485 0.7943801 -0.8482485 -0.7219621 0.1262864 TRUE TRUE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001669897 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001670105_000 ENSE00001670105 000 11 77614547 77614716 - 39 81 50 NA NA NA NA NA CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 NA NA NA NA NA NA CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT natural 43 56 0.9929816 0.9661661 0.9795738 2037 2258 0.9967339 0.9942603 0.9954971 0.9929816 0.9661661 0.9967339 0.9942603 0 0 0 0 0.9795738 0.9954971 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003580029 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001670105_009 ENSE00001670105 009 11 77614547 77614716 - 39 81 50 C T 77614649 2215 68 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTATGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903602 77903603 77903603 exon 18 0.2222222 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTATGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant 20 37 0.9509201 0.85 0.90046 16 212 0.8314302 0.95 0.8907151 0.9929816 0.9661661 0.9967339 0.9942603 -0.04206148 -0.1161661 -0.1653037 -0.04426032 0.9795738 0.9954971 -0.07911379 -0.104782 0.02566824 FALSE FALSE 0.998 0.36 NA NA NA INTS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA INTS4 NA NA NA ENSG00000149262 ENSE00003580029 synonymous_variant 1.718636 0.9572 0.62324 0.706548 0.8510765 0 0.6530713 FALSE 4.07578e-06 ENSE00001670105_BRK ENSE00001670105 BRK 11 77614547 77614716 - 39 81 50 A,G; T,T NA NA NA CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTTTGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGCCAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 NA NA NA NA NA NA CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTTTGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGCCAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT control 32 76 0 0 0 NA NA NA NA NA 0.9929816 0.9661661 0.9967339 0.9942603 -0.9929816 -0.9661661 NA NA 0.9795738 0.9954971 -0.9795738 NA NA NA TRUE NA NA NA NA NA INTS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA INTS4 NA NA NA ENSG00000149262 ENSE00003580029 NA NA NA NA NA NA NA 0.6530713 FALSE NA ENSE00001670992_000 ENSE00001670992 000 2 153496431 153496600 + 41 99 30 NA NA NA NA NA GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 NA NA NA NA NA NA TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC natural NA NA NA NA NA 1592 2367 0.9809651 0.9922222 0.9865937 NA NA 0.9809651 0.9922222 NA NA 0 0 NA 0.9865937 NA 0 NA FALSE NA NA NA NA NA NA FMNL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FMNL2 NA NA NA ENSG00000157827 ENSE00001670992 NA NA NA NA NA NA NA 0.9969994 TRUE NA ENSE00001670992_001 ENSE00001670992 001 2 153496431 153496600 + 41 99 30 C T 153496467 3043 37 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGATAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152639952 152639953 152639953 upstr_intron -5 -0.09756098 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTATCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 609 1347 0.9902283 0.9997651 0.9949967 NA NA 0.9809651 0.9922222 NA NA 0.00926322 0.007542895 NA 0.9865937 NA 0.008403058 NA FALSE NA 0 -1.33 . splice_region_variant&intron_variant LOW FMNL2 HGNC 18267 ENST00000475377 10/13 1 NA ACC C,T 1.785e-05 2:152639953 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 splice_region_variant 0.535194 0.16936 0.06073 0.156188 0.5739509 0.102239 0.9969994 TRUE NA ENSE00001670992_002 ENSE00001670992 002 2 153496431 153496600 + 41 99 30 A C 153496480 3044 50 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCGTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152639965 152639966 152639966 exon 9 0.09090909 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGACGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 83 95 0.9868164 1 0.9934082 NA NA 0.9809651 0.9922222 NA NA 0.005851273 0.007777788 NA 0.9865937 NA 0.006814531 NA FALSE NA 0.984 0.059 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000475377 11/14 rs368095588 1 tolerated(0.23) benign(0.217) NA C:0 C:0.0001 AAG A,C 8.764e-06 2:152639966 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 missense_variant 2.054241 0.95239 0.84307 0.706548 0.9649148 0 0.9969994 TRUE 6.23745e-06 ENSE00001670992_003 ENSE00001670992 003 2 153496431 153496600 + 41 99 30 A G 153496510 3045 80 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGCTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152639995 152639996 152639996 exon 39 0.3939394 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAGCAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 48 636 0.9967919 0.9971371 0.9969645 NA NA 0.9809651 0.9922222 NA NA 0.01582681 0.00491489 NA 0.9865937 NA 0.01037085 NA FALSE NA 0.993 0.456 . synonymous_variant LOW FMNL2 HGNC 18267 ENST00000475377 11/14 1 NA AAC A,G 8.779e-06 2:152639996 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 synonymous_variant 1.299222 0.96241 0.36245 0.706548 0.6147752 0 0.9969994 TRUE NA ENSE00001670992_004 ENSE00001670992 004 2 153496431 153496600 + 41 99 30 G A 153496523 3046 93 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTTCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640008 152640009 152640009 exon -48 0.5252525 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGAAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 894 145 0.9882997 0.9989077 0.9936037 NA NA 0.9809651 0.9922222 NA NA 0.007334581 0.006685512 NA 0.9865937 NA 0.007010046 NA FALSE NA 1 9.789 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000475377 11/14 1 deleterious(0.04) benign(0.292) NA GGA G,A 1.772e-05 2:152640009 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 missense_variant 6.194605 0.9944 0.99449 0.706548 0.9981762 0 0.9969994 TRUE 5.53908e-05 ENSE00001670992_005 ENSE00001670992 005 2 153496431 153496600 + 41 99 30 C T 153496532 3047 102 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAAGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640017 152640018 152640018 exon -39 0.6161616 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCTTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 285 227 0.9937729 0.9828133 0.9882931 NA NA 0.9809651 0.9922222 NA NA 0.01280783 -0.009408945 NA 0.9865937 NA 0.001699442 NA FALSE NA 0.001 -0.04 . synonymous_variant LOW FMNL2 HGNC 18267 ENST00000475377 11/14 rs562203731 1 T:0.0014 T:0 T:0 NA T:0 T:0 T:0.0072 CCT C,T 0.0001345 2:152640018 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 synonymous_variant 1.98625 0.29974 0.06563 0.706548 0.6550277 0 0.9969994 TRUE 0.000161683 ENSE00001670992_006 ENSE00001670992 006 2 153496431 153496600 + 41 99 30 G C 153496541 3048 111 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTGTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640026 152640027 152640027 exon -30 0.7070707 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAACAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 937 3908 0.9992067 0.9740251 0.9866159 NA NA 0.9809651 0.9922222 NA NA 0.01824163 -0.0181971 NA 0.9865937 NA 2.226229e-05 NA FALSE NA 1 9.789 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000475377 11/14 1 tolerated(0.09) benign(0.403) NA AGA G,C 9.104e-06 2:152640027 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 missense_variant 4.923708 0.99469 0.99559 0.706548 0.9939764 0 0.9969994 TRUE 1.26299e-05 ENSE00001670992_007 ENSE00001670992 007 2 153496431 153496600 + 41 99 30 G A 153496553 3049 123 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTTCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640038 152640039 152640039 exon -18 0.8282828 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGAAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 625 524 0.9990081 1 0.9995041 NA NA 0.9809651 0.9922222 NA NA 0.018043 0.007777788 NA 0.9865937 NA 0.01291039 NA FALSE NA 1 5.373 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000475377 11/14 1 tolerated(0.42) benign(0.292) NA GGA G,A 9.379e-06 2:152640039 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 missense_variant 5.243445 0.9818 0.96473 0.706548 0.9849903 0 0.9969994 TRUE NA ENSE00001670992_008 ENSE00001670992 008 2 153496431 153496600 + 41 99 30 A G 153496554 3050 124 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCCCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640039 152640040 152640040 exon -17 0.8383838 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGGGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 98 972 1 1 1 NA NA 0.9809651 0.9922222 NA NA 0.01903489 0.007777788 NA 0.9865937 NA 0.01340634 NA FALSE NA 1 7.254 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000475377 11/14 1 tolerated(0.13) benign(0.403) NA GAG A,G 9.374e-06 2:152640040 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 missense_variant 5.576286 0.98622 0.98714 0.706548 0.9945585 0 0.9969994 TRUE NA ENSE00001670992_009 ENSE00001670992 009 2 153496431 153496600 + 41 99 30 G T 153496562 3051 132 GACCTGTCTCATGAGTGCGGCACTTCTTACCTTTGGATACTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640047 152640048 152640048 exon -9 0.9191919 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGTATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 37 628 1 1 1 NA NA 0.9809651 0.9922222 NA NA 0.01903489 0.007777788 NA 0.9865937 NA 0.01340634 NA FALSE NA 1 5.382 . missense_variant MODERATE FMNL2 HGNC 18267 ENST00000475377 11/14 rs370350208 1 deleterious(0.01) possibly_damaging(0.861) NA T:0.0003 T:0 GGA G,T 9.593e-06 2:152640048 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 missense_variant 6.776523 0.99023 0.93948 0.706548 0.9885316 0 0.9969994 TRUE NA ENSE00001670992_011 ENSE00001670992 011 2 153496431 153496600 + 41 99 30 G A 153496578 3053 148 GACCTGTCTCATGAGTGCGGCATTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640063 152640064 152640064 downstr_intron 8 1.275862 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAATGCCGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 615 242 0.9985016 1 0.9992508 NA NA 0.9809651 0.9922222 NA NA 0.01753647 0.007777788 NA 0.9865937 NA 0.01265713 NA FALSE NA 0.004 1.281 . splice_region_variant&intron_variant LOW FMNL2 HGNC 18267 ENST00000475377 11/13 1 NA AGT G,A 1.037e-05 2:152640064 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 splice_region_variant -0.211159 0.23397 0.03512 0.099367 0.5757158 0.0476178 0.9969994 TRUE 6.87673e-06 ENSE00001670992_012 ENSE00001670992 012 2 153496431 153496600 + 41 99 30 C T 153496582 3054 152 GACCTGTCTCATGAGTGCAGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640067 152640068 152640068 downstr_intron 12 1.413793 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCTGCACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 387 358 0.9943328 1 0.9971664 NA NA 0.9809651 0.9922222 NA NA 0.01336764 0.007777788 NA 0.9865937 NA 0.01057272 NA FALSE NA 0 0.001 . intron_variant MODIFIER FMNL2 HGNC 18267 ENST00000475377 11/13 rs374315974 1 NA T:0.0003 T:0 CCG C,T 2.122e-05 2:152640068 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 intron_variant -0.17721 0.18792 0.07235 0.099367 0.3330914 0.0476178 0.9969994 TRUE 7.0207e-05 ENSE00001670992_013 ENSE00001670992 013 2 153496431 153496600 + 41 99 30 G A 153496583 3055 153 GACCTGTCTCATGAGTGTGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640068 152640069 152640069 downstr_intron 13 1.448276 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCACACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 506 588 0.9993938 0.9977105 0.9985521 NA NA 0.9809651 0.9922222 NA NA 0.01842864 0.005488244 NA 0.9865937 NA 0.01195844 NA FALSE NA 0 -2.099 rs143307065 intron_variant MODIFIER FMNL2 HGNC 18267 ENST00000475377 11/13 rs143307065 1 A:0.0048 A:0.0151 A:0.0058 NA A:0 A:0 A:0 A:0.0149 A:0.0001 CGC G,A 0.0006863 2:152640069 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 intron_variant -0.275289 0.11045 0.01116 0.099367 0.2881078 0.0476178 0.9969994 TRUE 0.000984628 ENSE00001670992_014 ENSE00001670992 014 2 153496431 153496600 + 41 99 30 C T 153496584 3056 154 GACCTGTCTCATGAGTACGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640069 152640070 152640070 downstr_intron 14 1.482759 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGTACTCATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 414 538 0.9947113 1 0.9973557 NA NA 0.9809651 0.9922222 NA NA 0.0137462 0.007777788 NA 0.9865937 NA 0.010762 NA FALSE NA 0 -1.105 . intron_variant MODIFIER FMNL2 HGNC 18267 ENST00000475377 11/13 rs371986410 1 NA T:0 T:0.0001 GCA C,T 4.284e-05 2:152640070 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 intron_variant -0.084253 0.20215 0.04308 0.099367 0.3131891 0.0476178 0.9969994 TRUE 4.93716e-05 ENSE00001670992_015 ENSE00001670992 015 2 153496431 153496600 + 41 99 30 C T 153496588 3057 158 GACCTGTCTCATAAGTGCGGCACTTCTTACCTTTGGATCCTGCTGCTCCATCAGAGCTTCTTGCTCTAGGAGTTTTTCCATGAGAGCTTGTTCCTGCTTTTTCCTCAGCTCATTTTCCTCTTCTGCTTGCTGGGTAAATCAAAAGAACCAGAAAGATGATGTTAATGGAA 152639916 152640086 152640073 152640074 152640074 downstr_intron 18 1.62069 TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTTATGAGACAGGTC TTCCATTAACATCATCTTTCTGGTTCTTTTGATTTACCCAGCAAGCAGAAGAGGAAAATGAGCTGAGGAAAAAGCAGGAACAAGCTCTCATGGAAAAACTCCTAGAGCAAGAAGCTCTGATGGAGCAGCAGGATCCAAAGGTAAGAAGTGCCGCACTCATGAGACAGGTC mutant NA NA NA NA NA 141 65 1 1 1 NA NA 0.9809651 0.9922222 NA NA 0.01903489 0.007777788 NA 0.9865937 NA 0.01340634 NA FALSE NA 0 -3.388 . intron_variant MODIFIER FMNL2 HGNC 18267 ENST00000475377 11/13 1 NA TCA C,T 9.849e-05 2:152640074 FMNL2 HGNC Symbol protein_coding 314597 ENSG00000157827 ENSE00001670992 intron_variant 0.138388 0.17573 0.04671 0.099367 0.2458787 0.0476178 0.9969994 TRUE 0.000117947 ENSE00001671197_000 ENSE00001671197 000 10 62038502 62038671 - 30 99 41 NA NA NA NA NA AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 NA NA NA NA NA NA AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT natural 49 46 0.9711457 0.9944016 0.9827737 6308 4961 0.9287704 0.9128985 0.9208345 0.9711457 0.9944016 0.9287704 0.9128985 0 0 0 0 0.9827737 0.9208345 0 0 0 FALSE FALSE NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00002433170 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001671197_001 ENSE00001671197 001 10 62038502 62038671 - 30 99 41 A G 62038514 1096 158 AATGTCTGTGGCGTGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278755 60278756 60278756 downstr_intron 18 1.62069 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCACGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 1370 277 0.9968225 0.9724097 0.9846161 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.06805208 0.05951118 0.9827737 0.9208345 NA 0.06378163 NA FALSE NA 0 0.137 rs139733143 intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 5/43 rs139733143 1 G:0.0004 G:0 G:0 NA G:0 G:0.002 G:0 G:0 G:0.0002 CAT A,G 0.0003542 10:60278756 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 intron_variant -0.070585 0.17096 0.06989 0.061011 0.4597256 0.0851235 1 TRUE 0.000399605 ENSE00001671197_002 ENSE00001671197 002 10 62038502 62038671 - 30 99 41 T C 62038523 1097 149 AATGTCTGTGGCATGGAGTTGCAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278764 60278765 60278765 downstr_intron 9 1.310345 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTGCAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 1817 564 0.9872145 0.999371 0.9932927 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.05844406 0.08647249 0.9827737 0.9208345 NA 0.07245828 NA FALSE NA 0 -0.152 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 5/43 1 NA GTA T,C 1.647e-05 10:60278765 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 intron_variant 0.062956 0.20918 0.05786 0.061011 0.6670792 0.0958038 1 TRUE 8.14359e-06 ENSE00001671197_003 ENSE00001671197 003 10 62038502 62038671 - 30 99 41 G C 62038526 1098 146 AATGTCTGTGGCATGGAGTTGTAGCCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278767 60278768 60278768 downstr_intron 6 1.206897 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGGCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 855 1573 0.9983259 0.9998994 0.9991127 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.0695555 0.08700096 0.9827737 0.9208345 NA 0.07827823 NA FALSE NA 0 -0.642 . splice_region_variant&intron_variant LOW ANK3 HGNC 494 ENST00000373827 5/43 1 NA GGC G,C 8.237e-06 10:60278768 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 splice_region_variant -0.430145 0.25022 0.0383 0.061011 0.4888286 0.177691 1 TRUE 1.62836e-05 ENSE00001671197_005 ENSE00001671197 005 10 62038502 62038671 - 30 99 41 A G 62038544 1100 128 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCGTTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278785 60278786 60278786 exon -13 0.8787879 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAACGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 670 684 1 0.9941751 0.9970875 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.07122958 0.08127659 0.9827737 0.9208345 NA 0.07625308 NA FALSE NA 0.979 0.271 rs1031688 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 5/44 rs1031688 1 G:0.0240 G:0.0257 G:0.0187 NA G:0.001 G:0.0348 G:0.0378 G:0.0193 G:0.0299 CAT A,G 0.022 10:60278786 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 synonymous_variant 0.657531 0.9766 0.62312 0.693126 0.6618891 0 1 TRUE 0.0214024 ENSE00001671197_006 ENSE00001671197 006 10 62038502 62038671 - 30 99 41 G A 62038547 1101 125 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTAACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278788 60278789 60278789 exon -16 0.8484848 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTTAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 15 130 0.8 1 0.9 0.9711457 0.9944016 0.9287704 0.9128985 NA NA -0.1287704 0.08710152 0.9827737 0.9208345 NA -0.02083445 NA FALSE NA 1 3.851 rs77316697 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 5/44 rs77316697 1 A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 A:0.0005 A:0.0019 TGA G,A 0.0006095 10:60278789 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 synonymous_variant 1.384215 0.99647 0.967 0.638212 0.8152366 0 1 TRUE 0.000768824 ENSE00001671197_007 ENSE00001671197 007 10 62038502 62038671 - 30 99 41 T C 62038551 1102 121 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACACTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278792 60278793 60278793 exon -20 0.8080808 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAGTGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 735 2512 0.9985351 0.9974056 0.9979703 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.06976465 0.08450708 0.9827737 0.9208345 NA 0.07713586 NA FALSE NA 1 7.803 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 5/44 1 tolerated_low_confidence(0.11) benign(0.001) NA ATT T,C 8.237e-06 10:60278793 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 missense_variant 2.932089 0.99494 0.98493 0.693126 0.9957735 0 1 TRUE 3.25415e-05 ENSE00001671197_008 ENSE00001671197 008 10 62038502 62038671 - 30 99 41 G A 62038554 1103 118 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGACTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278795 60278796 60278796 exon -23 0.7777778 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGTCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 45 399 0.9965769 0.9999046 0.9982407 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.06780651 0.08700608 0.9827737 0.9208345 NA 0.0774063 NA FALSE NA 1 9.574 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 5/44 rs377444314 1 deleterious_low_confidence(0.01) benign(0.028) NA A:0 A:0.0001 GGC G,A 8.237e-06 10:60278796 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 missense_variant 6.91987 0.99647 0.99218 0.693126 0.9990514 0 1 TRUE 4.06798e-06 ENSE00001671197_009 ENSE00001671197 009 10 62038502 62038671 - 30 99 41 C T 62038557 1104 115 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTTCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278798 60278799 60278799 exon -26 0.7474747 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGAAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant 15 46 0.9960539 0.989271 0.9926625 795 1516 0.9254463 0.9817516 0.953599 0.9711457 0.9944016 0.9287704 0.9128985 0.02490821 -0.005130588 -0.003324081 0.06885311 0.9827737 0.9208345 0.009888809 0.03276451 0.02287571 FALSE FALSE 1 3.142 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 5/44 rs544201420 1 deleterious_low_confidence(0.01) benign(0.03) T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 TCC C,T 4.942e-05 10:60278799 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 missense_variant 6.88825 0.99638 0.94898 0.693126 0.9970107 0 1 TRUE 3.25423e-05 ENSE00001671197_010 ENSE00001671197 010 10 62038502 62038671 - 30 99 41 T A 62038561 1105 111 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATATGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278802 60278803 60278803 exon -30 0.7070707 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACATATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 854 843 0.9999518 1 0.9999759 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.07118138 0.08710152 0.9827737 0.9208345 NA 0.07914145 NA FALSE NA 1 3.189 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 5/44 1 tolerated_low_confidence(0.44) possibly_damaging(0.844) NA TTT T,A 8.237e-06 10:60278803 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 missense_variant 4.545982 0.99103 0.92649 0.693126 0.7185157 0 1 TRUE 4.06769e-06 ENSE00001671197_011 ENSE00001671197 011 10 62038502 62038671 - 30 99 41 G A 62038563 1106 109 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTATAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278804 60278805 60278805 exon -32 0.6868687 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTATAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant 15 93 0.9960539 0.9825948 0.9893243 1168 492 0.9998335 0.9917092 0.9957714 0.9711457 0.9944016 0.9287704 0.9128985 0.02490821 -0.01180685 0.07106309 0.07881073 0.9827737 0.9208345 0.006550676 0.07493691 0.06838623 FALSE FALSE 1 3.013 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 5/44 1 deleterious_low_confidence(0.01) benign(0.001) NA TGT G,A 8.237e-06 10:60278805 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 missense_variant 5.933967 0.99057 0.94901 0.693126 0.9981118 0 1 TRUE 4.06805e-06 ENSE00001671197_012 ENSE00001671197 012 10 62038502 62038671 - 30 99 41 T C 62038564 1107 108 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGCAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278805 60278806 60278806 exon -33 0.6767677 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTGCAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 2392 751 0.9977118 0.9979989 0.9978553 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.06894135 0.08510038 0.9827737 0.9208345 NA 0.07702087 NA FALSE NA 1 4.079 rs114937210 missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 5/44 rs114937210 1 deleterious_low_confidence(0.03) benign(0.007) C:0.0108 C:0.0401 C:0.0014 NA C:0 C:0 C:0 C:0.0354 C:0 GTA T,C 0.003056 10:60278806 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 missense_variant 3.972725 0.99129 0.94769 0.693126 0.983777 0 1 TRUE 0.00248135 ENSE00001671197_013 ENSE00001671197 013 10 62038502 62038671 - 30 99 41 C T 62038568 1108 104 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACTAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278809 60278810 60278810 exon -37 0.6363636 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTAGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant 10 15 1 0.9967037 0.9983519 990 2266 0.9969694 0.9999302 0.9984498 0.9711457 0.9944016 0.9287704 0.9128985 0.0288543 0.0023021 0.068199 0.08703172 0.9827737 0.9208345 0.0155782 0.07761536 0.06203716 FALSE FALSE 1 2.454 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 5/44 1 NA CCA C,T 8.237e-06 10:60278810 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 synonymous_variant 1.54906 0.98523 0.90025 0.693126 0.7074174 0 1 TRUE 4.06745e-06 ENSE00001671197_014 ENSE00001671197 014 10 62038502 62038671 - 30 99 41 C T 62038582 1109 90 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCATCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278823 60278824 60278824 exon 49 0.4949495 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGATGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 1128 340 1 0.9968978 0.9984489 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.07122958 0.08399929 0.9827737 0.9208345 NA 0.07761443 NA FALSE NA 1 5.872 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 5/44 1 deleterious_low_confidence(0) possibly_damaging(0.879) NA ACC C,T 8.237e-06 10:60278824 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 missense_variant 6.704686 0.99343 0.9681 0.693126 0.9987784 0 1 TRUE 4.06779e-06 ENSE00001671197_015 ENSE00001671197 015 10 62038502 62038671 - 30 99 41 A C 62038601 1110 71 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAACGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278842 60278843 60278843 exon 30 0.3030303 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCGTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 1074 2177 0.9945047 0.9970457 0.9957752 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.06573433 0.08414722 0.9827737 0.9208345 NA 0.07494077 NA FALSE NA 0.117 -0.77 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 5/44 1 NA AAG A,C 8.237e-06 10:60278843 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 synonymous_variant -0.8815 0.30119 0.06765 0.693126 0.6154777 0 1 TRUE 4.06792e-06 ENSE00001671197_016 ENSE00001671197 016 10 62038502 62038671 - 30 99 41 T C 62038604 1111 68 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGACGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278845 60278846 60278846 exon 27 0.2727273 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCGTCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 615 1010 0.863511 1 0.9317555 0.9711457 0.9944016 0.9287704 0.9128985 NA NA -0.06525943 0.08710152 0.9827737 0.9208345 NA 0.01092104 NA FALSE NA 0.942 0.202 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 5/44 1 NA ATG T,C 8.237e-06 10:60278846 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 synonymous_variant 0.781997 0.98177 0.82772 0.693126 0.7516446 0 1 TRUE NA ENSE00001671197_017 ENSE00001671197 017 10 62038502 62038671 - 30 99 41 C T 62038606 1112 66 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGTGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278847 60278848 60278848 exon 25 0.2525253 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCACATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 1569 1468 0.9953296 0.9958447 0.9955872 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.06655918 0.08294626 0.9827737 0.9208345 NA 0.07475272 NA FALSE NA 1 5.781 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 5/44 COSM919320 1 deleterious_low_confidence(0) benign(0.019) NA GCG C,T 8.237e-06 10:60278848 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 missense_variant 7.164188 0.99385 0.97832 0.693126 0.9992547 0 1 TRUE 4.06798e-06 ENSE00001671197_018 ENSE00001671197 018 10 62038502 62038671 - 30 99 41 G A 62038610 1113 62 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATATGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278851 60278852 60278852 exon 21 0.2121212 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCATATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant 26 21 0.9656338 0.9883433 0.9769886 4940 267 0.9727051 0.9982188 0.985462 0.9711457 0.9944016 0.9287704 0.9128985 -0.005511887 -0.006058265 0.04393465 0.08532035 0.9827737 0.9208345 -0.005785076 0.0646275 0.07041258 FALSE FALSE 1 3.828 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 5/44 1 NA TGT G,A 8.237e-06 10:60278852 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 synonymous_variant 0.817306 0.98456 0.92994 0.693126 0.5854137 0 1 TRUE 4.06881e-06 ENSE00001671197_019 ENSE00001671197 019 10 62038502 62038671 - 30 99 41 T A 62038625 1114 47 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTACCTTTCTGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278866 60278867 60278867 exon 6 0.06060606 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGTAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 357 798 1 0.9968389 0.9984194 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.07122958 0.08394037 0.9827737 0.9208345 NA 0.07758497 NA FALSE NA 1 0.998 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 5/44 1 NA TTC T,A 8.237e-06 10:60278867 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 synonymous_variant 0.843599 0.9783 0.91203 0.693126 0.6674527 0 1 TRUE 4.06937e-06 ENSE00001671197_020 ENSE00001671197 020 10 62038502 62038671 - 30 99 41 T G 62038634 1115 38 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGGGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278875 60278876 60278876 upstr_intron -4 -0.07317073 AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCCCAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 1189 33 0.9654008 0.9951769 0.9802889 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.03663038 0.08227846 0.9827737 0.9208345 NA 0.05945442 NA FALSE NA 0.002 0.296 . splice_region_variant&intron_variant LOW ANK3 HGNC 494 ENST00000373827 4/43 1 NA GTG T,G 8.237e-06 10:60278876 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 splice_region_variant 0.490245 0.24349 0.38728 0.074636 0.5981408 0.303414 1 TRUE NA ENSE00001671197_021 ENSE00001671197 021 10 62038502 62038671 - 30 99 41 G C 62038640 1116 32 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATCAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278881 60278882 60278882 upstr_intron -10 -0.2195122 AAAGATCGATGAGTTGATATATCTTGACTTTGATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 204 1400 1 0.999864 0.999932 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.07122958 0.08696549 0.9827737 0.9208345 NA 0.07909753 NA FALSE NA 0.003 -0.427 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 4/43 1 NA TGA G,C 8.237e-06 10:60278882 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 intron_variant 0.281093 0.33676 0.17032 0.061011 0.5804327 0.207057 1 TRUE 4.07236e-06 ENSE00001671197_022 ENSE00001671197 022 10 62038502 62038671 - 30 99 41 T C 62038645 1117 27 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGCCAAGATATATCAACTCATCGATCTTT 60278743 60278913 60278886 60278887 60278887 upstr_intron -15 -0.3414634 AAAGATCGATGAGTTGATATATCTTGGCTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 287 659 0.9998565 0.997179 0.9985177 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.0710861 0.08428048 0.9827737 0.9208345 NA 0.07768329 NA FALSE NA 0 -0.282 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 4/43 1 NA GTC T,C 1.647e-05 10:60278887 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 intron_variant -0.237511 0.1543 0.02068 0.061011 0.493598 0.0505976 1 TRUE 5.70237e-05 ENSE00001671197_023 ENSE00001671197 023 10 62038502 62038671 - 30 99 41 A G 62038648 1118 24 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAGGATATATCAACTCATCGATCTTT 60278743 60278913 60278889 60278890 60278890 upstr_intron -18 -0.4146341 AAAGATCGATGAGTTGATATATCCTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant 12 29 0.9960539 0.9991955 0.9976247 564 121 0.9947013 0.9986907 0.996696 0.9711457 0.9944016 0.9287704 0.9128985 0.02490821 0.004793844 0.06593092 0.08579222 0.9827737 0.9208345 0.01485103 0.07586157 0.06101054 FALSE FALSE 0.142 0.578 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 4/43 1 NA AAG A,G 8.237e-06 10:60278890 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 intron_variant -0.030282 0.15445 0.06712 0.061011 0.5895369 0.0505976 1 TRUE 4.07269e-06 ENSE00001671197_025 ENSE00001671197 025 10 62038502 62038671 - 30 99 41 A C 62038658 1120 14 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCACCTCATCGATCTTT 60278743 60278913 60278899 60278900 60278900 upstr_intron -28 -0.6585366 AAAGATCGATGAGGTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant 19 27 0.9755607 0.9681448 0.9718528 1009 1015 0.9946136 0.9265598 0.9605867 0.9711457 0.9944016 0.9287704 0.9128985 0.004415045 -0.02625681 0.06584313 0.01366135 0.9827737 0.9208345 -0.01092088 0.03975224 0.05067312 FALSE FALSE 0 0.429 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 4/43 rs372385433 1 NA C:0.0002 C:0 AAC A,C 8.238e-06 10:60278900 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 intron_variant 0.061617 0.19121 0.14382 0.061011 0.5471658 0.0500165 1 TRUE 4.07508e-06 ENSE00001671197_026 ENSE00001671197 026 10 62038502 62038671 - 30 99 41 C A 62038661 1121 11 AATGTCTGTGGCATGGAGTTGTAGGCTTACCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTCTGTGAAATGAAAGTCAAGATATATCAACTAATCGATCTTT 60278743 60278913 60278902 60278903 60278903 upstr_intron -31 -0.7317073 AAAGATCGATTAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT mutant NA NA NA NA NA 1038 891 0.9999603 0.9992706 0.9996155 0.9711457 0.9944016 0.9287704 0.9128985 NA NA 0.07118992 0.08637208 0.9827737 0.9208345 NA 0.078781 NA FALSE NA 0 -0.037 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 4/43 1 NA TCA C,A 8.238e-06 10:60278903 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002433170 intron_variant 0.147989 0.26436 0.20066 0.061011 0.6412735 0.0492488 1 TRUE 4.07614e-06 ENSE00001671197_BRK ENSE00001671197 BRK 10 62038502 62038671 - 30 99 41 A,G; T,T NA NA NA AATGTCTGTGGCATGGAGTTGTAGGCTTGGCTGAGATTGTGCATTGACATTGGCTCCATTTGTAACCAAGACTTTTACCACCTCTGCTTGCCCAGCCAAAGATGCGATGTGCAATGCTGTGTTTCCTTTAAGTGAAATGAAAGTCAAGATATATCAACTCATCGATCTTT 60278743 60278913 NA NA NA NA NA NA AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACTTAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGCCAAGCCTACAACTCCATGCCACAGACATT AAAGATCGATGAGTTGATATATCTTGACTTTCATTTCACAGAAAGGAAACACAGCATTGCACATCGCATCTTTGGCTGGGCAAGCAGAGGTGGTAAAAGTCTTGGTTACAAATGGAGCCAATGTCAATGCACAATCTCAGGTAAGCCTACAACTCCATGCCACAGACATT control 127 40 0 0 0 1261 587 0.04122045 0 0.02061023 0.9711457 0.9944016 0.9287704 0.9128985 -0.9711457 -0.9944016 -0.88755 -0.9128985 0.9827737 0.9208345 -0.9827737 -0.9002242 0.08254943 TRUE TRUE NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00002433170 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001671444_000 ENSE00001671444 000 1 26863348 26863517 + 68 45 57 NA NA NA NA NA CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 NA NA NA NA NA NA CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG natural 48 49 0.9868238 0.9234145 0.9551192 1757 1490 0.9805936 0.9615571 0.9710754 0.9868238 0.9234145 0.9805936 0.9615571 0 0 0 0 0.9551192 0.9710754 0 0 0 FALSE FALSE NA NA NA NA NA RPS6KA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS6KA1 NA NA NA ENSG00000117676 ENSE00003770295 NA NA NA NA NA NA NA 0.7258756 FALSE NA ENSE00001671444_002 ENSE00001671444 002 1 26863348 26863517 + 68 45 57 C T 26863369 817 22 CCACAGAGTCTTTCTCCCAAGTGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536877 26536878 26536878 upstr_intron -47 -0.6764706 CCACAGAGTCTTTCTCCCAAGTGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 57 21 0.8 1 0.9 0.9868238 0.9234145 0.9805936 0.9615571 NA NA -0.1805936 0.03844289 0.9551192 0.9710754 NA -0.07107536 NA FALSE NA 0 -0.068 . intron_variant&NMD_transcript_variant MODIFIER RPS6KA1 HGNC 10430 ENST00000525525 2/3 rs199568066 1 T:0.0006 T:0 T:0 NA T:0 T:0.003 T:0 T:0 T:0.0013 GCG C,T 0.0008484 1:26536878 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 intron_variant 0.357281 0.22399 0.0602 0.106106 0.3498225 0.0484703 0.7258756 FALSE 0.000739507 ENSE00001671444_003 ENSE00001671444 003 1 26863348 26863517 + 68 45 57 G C 26863370 818 23 CCACAGAGTCTTTCTCCCAAGCCTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536878 26536879 26536879 upstr_intron -46 -0.6617647 CCACAGAGTCTTTCTCCCAAGCCTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 57 100 1 0.9252712 0.9626356 0.9868238 0.9234145 0.9805936 0.9615571 NA NA 0.01940638 -0.03628595 0.9551192 0.9710754 NA -0.008439785 NA FALSE NA 0 -0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:26536879 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 intron_variant -0.448425 0.17457 0.03169 0.106106 0.313016 0.0484703 0.7258756 FALSE 0.000194998 ENSE00001671444_004 ENSE00001671444 004 1 26863348 26863517 + 68 45 57 G A 26863370 819 23 CCACAGAGTCTTTCTCCCAAGCATGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536878 26536879 26536879 upstr_intron -46 -0.6617647 CCACAGAGTCTTTCTCCCAAGCATGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 38 117 0.8135214 1 0.9067607 0.9868238 0.9234145 0.9805936 0.9615571 NA NA -0.1670722 0.03844289 0.9551192 0.9710754 NA -0.06431467 NA FALSE NA 0 -0.83 NA NA NA RPS6KA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS6KA1 NA NA NA ENSG00000117676 ENSE00003770295 intron_variant -0.209852 0.1638 0.0193 0.106106 0.2364904 0.0484703 0.7258756 FALSE 1.21874e-05 ENSE00001671444_006 ENSE00001671444 006 1 26863348 26863517 + 68 45 57 A G 26863384 821 37 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACGGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536892 26536893 26536893 upstr_intron -32 -0.4558824 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACGGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 25 368 1 1 1 0.9868238 0.9234145 0.9805936 0.9615571 NA NA 0.01940638 0.03844289 0.9551192 0.9710754 NA 0.02892464 NA FALSE NA 0 -0.044 . intron_variant&NMD_transcript_variant MODIFIER RPS6KA1 HGNC 10430 ENST00000525525 2/3 rs568731194 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAG A,G 8.236e-06 1:26536893 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 intron_variant -0.344699 0.24795 0.07362 0.163922 0.5694292 0.0635055 0.7258756 FALSE 4.06131e-06 ENSE00001671444_007 ENSE00001671444 007 1 26863348 26863517 + 68 45 57 G C 26863387 822 40 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTCCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536895 26536896 26536896 upstr_intron -29 -0.4117647 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTCCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 86 103 1 1 1 0.9868238 0.9234145 0.9805936 0.9615571 NA NA 0.01940638 0.03844289 0.9551192 0.9710754 NA 0.02892464 NA FALSE NA 0 -0.789 . intron_variant&NMD_transcript_variant MODIFIER RPS6KA1 HGNC 10430 ENST00000525525 2/3 rs373377281 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TGC G,C 2.471e-05 1:26536896 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 intron_variant -0.324089 0.24237 0.09454 0.163922 0.3991967 0.0635055 0.7258756 FALSE 3.65524e-05 ENSE00001671444_009 ENSE00001671444 009 1 26863348 26863517 + 68 45 57 C T 26863392 824 45 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCTCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536900 26536901 26536901 upstr_intron -24 -0.3382353 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCTCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 96 121 0.9464759 1 0.9732379 0.9868238 0.9234145 0.9805936 0.9615571 NA NA -0.03411773 0.03844289 0.9551192 0.9710754 NA 0.002162576 NA FALSE NA 0 -0.982 NA NA NA RPS6KA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:26536901 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 intron_variant 0.245357 0.22833 0.06525 0.163922 0.5150738 0.0635055 0.7258756 FALSE 0.000198998 ENSE00001671444_012 ENSE00001671444 012 1 26863348 26863517 + 68 45 57 T C 26863418 827 71 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAACGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536926 26536927 26536927 exon 3 0.06666667 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAACGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 203 221 1 0.9801714 0.9900857 0.9868238 0.9234145 0.9805936 0.9615571 NA NA 0.01940638 0.01861431 0.9551192 0.9710754 NA 0.01901035 NA FALSE NA 1 2.332 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW RPS6KA1 HGNC 10430 ENST00000525525 3/4 rs574836970 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 3.295e-05 1:26536927 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 splice_region_variant 1.697338 0.94405 0.70808 0.736574 0.9197939 0 0.7258756 FALSE 3.65482e-05 ENSE00001671444_015 ENSE00001671444 015 1 26863348 26863517 + 68 45 57 G A 26863434 830 87 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGAAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536942 26536943 26536943 exon 19 0.4222222 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGAAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 88 29 1 1 1 0.9868238 0.9234145 0.9805936 0.9615571 NA NA 0.01940638 0.03844289 0.9551192 0.9710754 NA 0.02892464 NA FALSE NA 1 4.608 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RPS6KA1 HGNC 10430 ENST00000525525 3/4 1 NA GGA G,A 2.471e-05 1:26536943 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 missense_variant 3.741402 0.95058 0.86084 0.736574 0.9991825 0 0.7258756 FALSE 1.2183e-05 ENSE00001671444_020 ENSE00001671444 020 1 26863348 26863517 + 68 45 57 G A 26863454 835 107 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCATCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536962 26536963 26536963 exon -7 0.8666667 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCATCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 296 504 1 0.9990123 0.9995061 0.9868238 0.9234145 0.9805936 0.9615571 NA NA 0.01940638 0.03745518 0.9551192 0.9710754 NA 0.02843078 NA FALSE NA 0.004 -0.762 rs17847444 3_prime_UTR_variant&NMD_transcript_variant MODIFIER RPS6KA1 HGNC 10430 ENST00000525525 3/4 rs17847444 1 A:0.0004 A:0.0008 A:0 NA A:0.001 A:0 A:0 A:0.0002 A:0.0001 CGT G,A 0.0001977 1:26536963 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 synonymous_variant 0.605566 0.14312 0.00938 0.736574 0.8226423 0 0.7258756 FALSE 0.000198991 ENSE00001671444_022 ENSE00001671444 022 1 26863348 26863517 + 68 45 57 G A 26863466 837 119 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGAACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536974 26536975 26536975 downstr_intron 6 1.107143 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGAACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 106 373 1 0.9976183 0.9988091 0.9868238 0.9234145 0.9805936 0.9615571 NA NA 0.01940638 0.03606115 0.9551192 0.9710754 NA 0.02773377 NA FALSE NA 0.435 0.584 NA NA NA RPS6KA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:26536975 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 splice_region_variant 1.540928 0.92015 0.41206 0.106106 0.8859184 0.800265 0.7258756 FALSE 4.06128e-06 ENSE00001671444_023 ENSE00001671444 023 1 26863348 26863517 + 68 45 57 A G 26863470 838 123 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCGTGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536978 26536979 26536979 downstr_intron 10 1.178571 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCGTGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant 15 11 1 1 1 NA NA NA NA NA 0.9868238 0.9234145 0.9805936 0.9615571 0.0131762 0.07658547 NA NA 0.9551192 0.9710754 0.04488084 NA NA NA FALSE 0 -0.379 . intron_variant&NMD_transcript_variant MODIFIER RPS6KA1 HGNC 10430 ENST00000525525 3/3 rs376800319 1 NA G:0 G:0.0001 CAT A,G 6.589e-05 1:26536979 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 intron_variant 1.150041 0.39349 0.0646 0.106106 0.78923 0.0936394 0.7258756 FALSE 4.46748e-05 ENSE00001671444_024 ENSE00001671444 024 1 26863348 26863517 + 68 45 57 C T 26863487 839 140 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGTGAGGGGCTGTGGGGGATCCTGTTTGCATGG 26536856 26537026 26536995 26536996 26536996 downstr_intron 27 1.482143 CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGTGAGGGGCTGTGGGGGATCCTGTTTGCATGG CCACAGAGTCTTTCTCCCAAGCGTGTAAGTTCTGACAGTGCTCCCCCAATCTCCTTTCTCTTTTCCAGAATGGACAGACCTCAGGGGAAGAAGCTGGACTTCAGCCGTCCAAGGTGAGGACCATGGCCAGCACCCTGAGCGAGGGGCTGTGGGGGATCCTGTTTGCATGG mutant NA NA NA NA NA 55 120 0.9635187 0.8163991 0.8899589 0.9868238 0.9234145 0.9805936 0.9615571 NA NA -0.01707495 -0.1451581 0.9551192 0.9710754 NA -0.0811165 NA FALSE NA 0 -1.186 . intron_variant&NMD_transcript_variant MODIFIER RPS6KA1 HGNC 10430 ENST00000525525 3/3 1 NA GCG C,T 0.0001153 1:26536996 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003770295 intron_variant 0.422301 0.20452 0.02004 0.106106 0.5145805 0.0650062 0.7258756 FALSE 8.12552e-05 ENSE00001671663_000 ENSE00001671663 000 1 40771758 40771927 - 57 45 68 NA NA NA NA NA TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCGCCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 NA NA NA NA NA NA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA natural NA NA NA NA NA 433 818 0.9919364 0.9752979 0.9836171 NA NA 0.9919364 0.9752979 NA NA 0 0 NA 0.9836171 NA 0 NA FALSE NA NA NA NA NA NA COL9A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A2 NA NA NA ENSG00000049089 ENSE00003570138 NA NA NA NA NA NA NA 0.1828012 FALSE NA ENSE00001671663_001 ENSE00001671663 001 1 40771758 40771927 - 57 45 68 C T 40771784 1479 144 TCTTCCTGGCCCCAGACTTCCTTGCTTAATTCTGTCCCCAGCTTGGGATCGCCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 40306111 40306112 40306112 downstr_intron 31 1.553571 AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTAAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA mutant NA NA NA NA NA 324 403 0.9733433 0.9569259 0.9651346 NA NA 0.9919364 0.9752979 NA NA -0.01859309 -0.01837195 NA 0.9836171 NA -0.01848252 NA FALSE NA 0 0.299 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000417105 1 NA TCA .,T 8.236e-06 1:40306112 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003570138 intron_variant 0.46716 0.3324 0.14395 0.256867 0.7076744 0.102323 0.1828012 FALSE 4.06121e-06 ENSE00001671663_002 ENSE00001671663 002 1 40771758 40771927 - 57 45 68 C T 40771799 1480 129 TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGTTTGGGATCGCCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 40306126 40306127 40306127 downstr_intron 16 1.285714 AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAACTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA mutant NA NA NA NA NA 80 203 0.9816878 0.9258809 0.9537843 NA NA 0.9919364 0.9752979 NA NA -0.0102486 -0.049417 NA 0.9836171 NA -0.0298328 NA FALSE NA 0 -1.115 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000417105 1 NA GCT .,T 8.236e-06 1:40306127 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003570138 intron_variant 0.175609 0.20522 0.04886 0.256867 0.4591606 0.0894079 0.1828012 FALSE 8.12189e-06 ENSE00001671663_003 ENSE00001671663 003 1 40771758 40771927 - 57 45 68 C T 40771807 1481 121 TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATTGCCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 40306134 40306135 40306135 downstr_intron 8 1.142857 AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCAATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA mutant NA NA NA NA NA 291 413 0.8666671 0.9601407 0.9134039 NA NA 0.9919364 0.9752979 NA NA -0.1252692 -0.01515718 NA 0.9836171 NA -0.07021321 NA FALSE NA 0.219 0.461 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000417105 1 NA TCG .,T 5.765e-05 1:40306135 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003570138 splice_region_variant 1.32072 0.28295 0.0529 0.256867 0.568201 0.295398 0.1828012 FALSE 4.06095e-05 ENSE00001671663_004 ENSE00001671663 004 1 40771758 40771927 - 57 45 68 G A 40771808 1482 120 TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCACCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 40306135 40306136 40306136 downstr_intron 7 1.125 AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGTGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA mutant NA NA NA NA NA 256 366 0.9771114 0.9700238 0.9735676 NA NA 0.9919364 0.9752979 NA NA -0.01482491 -0.005274048 NA 0.9836171 NA -0.01004948 NA FALSE NA 0.294 0.228 rs79627294 downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000417105 rs79627294 1 A:0.0090 A:0.0325 A:0.0014 NA A:0 A:0 A:0.001 A:0.0159 A:0.0001 CGC .,A 0.001894 1:40306136 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003570138 splice_region_variant 0.904437 0.19639 0.03595 0.256867 0.6294939 0.365157 0.1828012 FALSE 0.00160823 ENSE00001671663_005 ENSE00001671663 005 1 40771758 40771927 - 57 45 68 C T 40771809 1483 119 TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCGTCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 40306136 40306137 40306137 downstr_intron 6 1.107143 AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGACGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA mutant NA NA NA NA NA 70 86 0.9933481 1 0.9966741 NA NA 0.9919364 0.9752979 NA NA 0.001411758 0.02470212 NA 0.9836171 NA 0.01305694 NA FALSE NA 0.426 0.029 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000417105 1 NA GCC .,T 8.236e-06 1:40306137 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003570138 splice_region_variant 1.373635 0.26933 0.05931 0.256867 0.6598515 0.380728 0.1828012 FALSE NA ENSE00001671663_007 ENSE00001671663 007 1 40771758 40771927 - 57 45 68 G A 40771827 1485 101 TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCGCCTCACCTGGTCTCCAGGACCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 40306154 40306155 40306155 exon -13 0.7333333 AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGTCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA mutant 18 34 0.8189357 0.85 0.8344678 NA NA NA NA NA NA NA 0.9919364 0.9752979 NA NA NA NA NA 0.9836171 NA NA NA NA NA 0.971 0.181 rs138882727 downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000417105 rs138882727 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0012 GGC .,A 0.0008566 1:40306155 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003570138 synonymous_variant 1.090991 0.8716 0.71746 0.631515 0.7179938 0 0.1828012 FALSE 0.000942186 ENSE00001671663_008 ENSE00001671663 008 1 40771758 40771927 - 57 45 68 G C 40771843 1486 85 TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCGCCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCACGCTGGCCTGGCACACCCTGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 40306170 40306171 40306171 exon 17 0.3777778 AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCGTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA mutant NA NA NA NA NA 169 66 0.9972902 0.9326663 0.9649782 NA NA 0.9919364 0.9752979 NA NA 0.005353826 -0.04263156 NA 0.9836171 NA -0.01863887 NA FALSE NA 1 5.023 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000417105 1 NA AGG .,C 8.236e-06 1:40306171 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003570138 missense_variant 5.210204 0.95439 0.95996 0.631515 0.9842582 0 0.1828012 FALSE 4.06118e-06 ENSE00001671663_014 ENSE00001671663 014 1 40771758 40771927 - 57 45 68 A C 40771871 1492 57 TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCGCCTCACCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCCTGCAGAAAGACGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 40306198 40306199 40306199 upstr_intron -12 -0.1617647 AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACGTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA mutant NA NA NA NA NA 29 99 0 0 0 NA NA 0.9919364 0.9752979 NA NA -0.9919364 -0.9752979 NA 0.9836171 NA -0.9836171 NA TRUE NA 0.996 1.877 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000417105 rs200570244 1 C:0.0016 C:0.0061 C:0 NA C:0 C:0 C:0 C:0.0036 C:0 AAG .,C 0.0003295 1:40306199 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003570138 intron_variant 1.672123 0.89736 0.77443 0.075938 0.8723051 0.462689 0.1828012 FALSE 0.000288369 ENSE00001671663_BRK ENSE00001671663 BRK 1 40771758 40771927 - 57 45 68 A,G; T,T NA NA NA TCTTCCTGGCCCCAGACTTCCTTGCTCAATTCTGTCCCCAGCTTGGGATCGCCTCGGCTGGTCTCCAGGGCCTCCTTTTGTCCCAGGCTGGCCTGGCACACCAAGCAGAAAGAAGTTGAAGTCAGTTTCTGCCCTGGCATGAGGGAGCCCCATGCACCTGCTGCTTTGCT 40306085 40306255 NA NA NA NA NA NA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCTTGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGCCGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA AGCAAAGCAGCAGGTGCATGGGGCTCCCTCATGCCAGGGCAGAAACTGACTTCAACTTCTTTCTGCAGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGTGAGGCGATCCCAAGCTGGGGACAGAATTGAGCAAGGAAGTCTGGGGCCAGGAAGA control 89 31 0 0 0 NA NA NA NA NA NA NA 0.9919364 0.9752979 NA NA NA NA NA 0.9836171 NA NA NA NA NA NA NA NA NA NA COL9A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A2 NA NA NA ENSG00000049089 ENSE00003570138 NA NA NA NA NA NA NA 0.1828012 FALSE NA ENSE00001672473_000 ENSE00001672473 000 11 57561428 57561597 + 54 72 44 NA NA NA NA NA ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 NA NA NA NA NA NA ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC natural 348 489 0.8292488 0.8364169 0.8328328 6651 6749 0.9378419 0.8440486 0.8909452 0.8292488 0.8364169 0.9378419 0.8440486 0 0 0 0 0.8328328 0.8909452 0 0 0 FALSE FALSE NA NA NA NA NA CTNND1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNND1 NA NA NA ENSG00000198561 ENSE00003469970 NA NA NA NA NA NA NA 0.9953127 TRUE NA ENSE00001672473_001 ENSE00001672473 001 11 57561428 57561597 + 54 72 44 A G 57561438 1268 11 ATAGAGCAAAGGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57793965 57793966 57793966 upstr_intron -44 -0.7962963 ATAGAGCAAAGGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 1249 1463 0.9730129 0.9651989 0.9691059 0.8292488 0.8364169 0.9378419 0.8440486 NA NA 0.03517102 0.1211504 0.8328328 0.8909452 NA 0.07816069 NA FALSE NA 0.889 0.072 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs549738133 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAG A,G 8.276e-06 11:57793966 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 1.419763 0.08384 0.00142 0 0.5500186 0.323484 0.9953127 TRUE 4.10553e-06 ENSE00001672473_002 ENSE00001672473 002 11 57561428 57561597 + 54 72 44 G A 57561443 1269 16 ATAGAGCAAAAGAAGACCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57793970 57793971 57793971 upstr_intron -39 -0.7037037 ATAGAGCAAAAGAAGACCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 17 52 0.9304472 0.85 0.8902236 1463 1682 0.641131 0.5426058 0.5918684 0.8292488 0.8364169 0.9378419 0.8440486 0.1011984 0.01358313 -0.2967109 -0.3014428 0.8328328 0.8909452 0.05739079 -0.2990768 0.3564676 FALSE FALSE 0.934 0.817 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA GGC G,A 8.276e-06 11:57793971 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 2.574096 0.21016 0.04186 0 0.8217316 0.24701 0.9953127 TRUE 8.20991e-06 ENSE00001672473_003 ENSE00001672473 003 11 57561428 57561597 + 54 72 44 C T 57561447 1270 20 ATAGAGCAAAAGAAGGCCATAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57793974 57793975 57793975 upstr_intron -35 -0.6296296 ATAGAGCAAAAGAAGGCCATAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 252 457 0.95 0.9513725 0.9506863 0.8292488 0.8364169 0.9378419 0.8440486 NA NA 0.01215809 0.1073239 0.8328328 0.8909452 NA 0.05974101 NA FALSE NA 0 -0.249 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA ACA C,T 8.277e-06 11:57793975 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 2.672263 0.41588 0.03764 0 0.8441852 0.327933 0.9953127 TRUE 4.10435e-06 ENSE00001672473_004 ENSE00001672473 004 11 57561428 57561597 + 54 72 44 T C 57561456 1271 29 ATAGAGCAAAAGAAGGCCACAAAATGAACTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57793983 57793984 57793984 upstr_intron -26 -0.462963 ATAGAGCAAAAGAAGGCCACAAAATGAACTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 19 40 0.85 0.85 0.85 NA NA NA NA NA 0.8292488 0.8364169 0.9378419 0.8440486 0.02075125 0.01358313 NA NA 0.8328328 0.8909452 0.01716719 NA NA NA FALSE 0.991 0.194 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA ATT T,C 2.483e-05 11:57793984 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 2.668753 0.94117 0.23487 0 0.7059271 0.388335 0.9953127 TRUE 1.23114e-05 ENSE00001672473_005 ENSE00001672473 005 11 57561428 57561597 + 54 72 44 T C 57561461 1272 34 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCCTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57793988 57793989 57793989 upstr_intron -21 -0.3703704 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCCTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 2515 982 0.9540369 0.8277346 0.8908857 0.8292488 0.8364169 0.9378419 0.8440486 NA NA 0.01619501 -0.01631401 0.8328328 0.8909452 NA -5.9502e-05 NA FALSE NA 0.953 1.183 rs186648416 intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs186648416 1 C:0.0014 C:0 C:0 NA C:0.003 C:0 C:0.0041 C:0.0003 C:0 CTT T,C 0.0004552 11:57793989 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 2.671997 0.95574 0.74107 0 0.7479055 0.398051 0.9953127 TRUE 0.000397994 ENSE00001672473_006 ENSE00001672473 006 11 57561428 57561597 + 54 72 44 C G 57561463 1273 36 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTGTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57793990 57793991 57793991 upstr_intron -19 -0.3333333 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTGTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 1839 743 0.9481725 0.9461922 0.9471823 0.8292488 0.8364169 0.9378419 0.8440486 NA NA 0.01033061 0.1021436 0.8328328 0.8909452 NA 0.05623709 NA FALSE NA 0.984 0.622 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA TCT C,G 8.277e-06 11:57793991 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 2.694565 0.95074 0.91547 0 0.736975 0.385568 0.9953127 TRUE 4.10283e-06 ENSE00001672473_007 ENSE00001672473 007 11 57561428 57561597 + 54 72 44 G C 57561481 1274 54 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCACAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794008 57794009 57794009 upstr_intron -1 0 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCACAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 35 65 0 0 0 771 2848 0.005506218 0.00236781 0.003937014 0.8292488 0.8364169 0.9378419 0.8440486 -0.8292488 -0.8364169 -0.9323357 -0.8416808 0.8328328 0.8909452 -0.8328328 -0.8870082 0.05417542 TRUE TRUE 1 5.872 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA AGA G,C 8.277e-06 11:57794009 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 splice_acceptor_variant 4.71884 0.97781 0.9698 0.262962 0.9866117 0.859243 0.9953127 TRUE 4.10243e-06 ENSE00001672473_008 ENSE00001672473 008 11 57561428 57561597 + 54 72 44 C T 57561484 1275 57 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAATGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794011 57794012 57794012 exon 3 0.04166667 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAATGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 89 275 0.85 0.85 0.85 1135 441 0.9597928 0.9587379 0.9592653 0.8292488 0.8364169 0.9378419 0.8440486 0.02075125 0.01358313 0.02195086 0.1146893 0.8328328 0.8909452 0.01716719 0.06832009 0.0511529 FALSE FALSE 1 1.122 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs566085193 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACG C,T 3.311e-05 11:57794012 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 splice_region_variant 1.999242 0.96727 0.81224 0.722319 0.929464 0 0.9953127 TRUE 4.10246e-05 ENSE00001672473_009 ENSE00001672473 009 11 57561428 57561597 + 54 72 44 C T 57561488 1276 61 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCTGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794015 57794016 57794016 exon 7 0.09722222 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCTGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 640 833 0.6631781 0.5937431 0.6284606 0.8292488 0.8364169 0.9378419 0.8440486 NA NA -0.2746638 -0.2503055 0.8328328 0.8909452 NA -0.2624847 NA FALSE NA 1 3.13 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs201927451 1 NA T:0 T:0.0011 CCG C,T 0.0004138 11:57794016 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 missense_variant 8.016681 0.98525 0.92686 0.722319 0.9992796 0 0.9953127 TRUE 0.000393833 ENSE00001672473_010 ENSE00001672473 010 11 57561428 57561597 + 54 72 44 G A 57561489 1277 62 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCAGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794016 57794017 57794017 exon 8 0.1111111 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCAGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 66 153 0.85 0.85 0.85 474 225 0.8263914 0.8006418 0.8135166 0.8292488 0.8364169 0.9378419 0.8440486 0.02075125 0.01358313 -0.1114505 -0.04340679 0.8328328 0.8909452 0.01716719 -0.07742864 0.09459583 FALSE FALSE 1 4.258 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:57794017 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 missense_variant 3.906335 0.97524 0.93021 0.722319 0.9993638 0 0.9953127 TRUE 0.000127173 ENSE00001672473_011 ENSE00001672473 011 11 57561428 57561597 + 54 72 44 G C 57561489 1278 62 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCCGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794016 57794017 57794017 exon 8 0.1111111 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCCGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 1031 2388 0.006564688 0.006230403 0.006397546 0.8292488 0.8364169 0.9378419 0.8440486 NA NA -0.9312772 -0.8378182 0.8328328 0.8909452 NA -0.8845477 NA TRUE NA 1 4.258 NA NA NA CTNND1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNND1 NA NA NA ENSG00000198561 ENSE00003469970 missense_variant 6.554037 0.9777 0.95458 0.722319 0.9976475 0 0.9953127 TRUE 4.10236e-06 ENSE00001672473_012 ENSE00001672473 012 11 57561428 57561597 + 54 72 44 C T 57561499 1279 72 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGTGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794026 57794027 57794027 exon 18 0.25 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGTGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 100 3700 0.780707 0.8019761 0.7913416 0.8292488 0.8364169 0.9378419 0.8440486 NA NA -0.1571349 -0.04207246 0.8328328 0.8909452 NA -0.09960366 NA FALSE NA 1 3.118 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs553795773&COSM3739144&COSM3739143 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCG C,T 2.483e-05 11:57794027 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 synonymous_variant 2.318936 0.96613 0.89196 0.722319 0.8439282 0 0.9953127 TRUE 2.4614e-05 ENSE00001672473_014 ENSE00001672473 014 11 57561428 57561597 + 54 72 44 T C 57561511 1281 84 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTCGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794038 57794039 57794039 exon 30 0.4166667 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTCGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 1265 2021 0.9892962 0.9958704 0.9925833 0.8292488 0.8364169 0.9378419 0.8440486 NA NA 0.05145431 0.1518218 0.8328328 0.8909452 NA 0.1016381 NA FALSE NA 1 3.274 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs565495946 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TTG T,C 8.277e-06 11:57794039 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 synonymous_variant 0.116303 0.97107 0.8747 0.722319 0.7982034 0 0.9953127 TRUE 4.10226e-06 ENSE00001672473_015 ENSE00001672473 015 11 57561428 57561597 + 54 72 44 A G 57561543 1282 116 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAGCGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794070 57794071 57794071 exon -11 0.8611111 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAGCGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 21 62 0.85 0.85 0.85 627 166 0.8014429 0.80087 0.8011564 0.8292488 0.8364169 0.9378419 0.8440486 0.02075125 0.01358313 -0.136399 -0.04317863 0.8328328 0.8909452 0.01716719 -0.08978881 0.106956 FALSE FALSE 1 2.928 rs76817459 intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs76817459&COSM3383603&COSM3383602 1 G:0.0008 G:0 G:0.0029 NA G:0 G:0.002 G:0 G:0.0005 G:0.0015 AAC A,G 0.001043 11:57794071 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 missense_variant 1.602904 0.96184 0.82564 0.722319 0.9959384 0 0.9953127 TRUE 0.00121429 ENSE00001672473_017 ENSE00001672473 017 11 57561428 57561597 + 54 72 44 G A 57561553 1284 126 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAAGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794080 57794081 57794081 exon -1 1 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAAGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 176 45 0 0 0 1207 2118 0 0.1396518 0.06982592 0.8292488 0.8364169 0.9378419 0.8440486 -0.8292488 -0.8364169 -0.9378419 -0.7043967 0.8328328 0.8909452 -0.8328328 -0.8211193 0.01171349 TRUE TRUE 1 5.872 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA AGG G,A 8.278e-06 11:57794081 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 splice_region_variant 1.770806 0.97615 0.96064 0.722319 0.8808974 0 0.9953127 TRUE 8.20479e-06 ENSE00001672473_018 ENSE00001672473 018 11 57561428 57561597 + 54 72 44 T C 57561555 1285 128 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGCAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794082 57794083 57794083 downstr_intron 2 1.046512 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGCAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 15 21 0 0 0 NA NA NA NA NA 0.8292488 0.8364169 0.9378419 0.8440486 -0.8292488 -0.8364169 NA NA 0.8328328 0.8909452 -0.8328328 NA NA NA TRUE 1 4.741 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA GTA T,C 1.656e-05 11:57794083 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 splice_donor_variant 5.168235 0.98223 0.95338 0.162113 0.9885255 0.966156 0.9953127 TRUE 1.64103e-05 ENSE00001672473_019 ENSE00001672473 019 11 57561428 57561597 + 54 72 44 A G 57561557 1286 130 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAGTTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794084 57794085 57794085 downstr_intron 4 1.093023 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAGTTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 229 577 0.0419066 0.000633985 0.02127029 0.8292488 0.8364169 0.9378419 0.8440486 NA NA -0.8959353 -0.8434146 0.8328328 0.8909452 NA -0.869675 NA TRUE NA 0.951 2.024 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA AAT A,G 8.278e-06 11:57794085 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 splice_region_variant 1.875915 0.9718 0.67325 0.078448 0.9343639 0.783675 0.9953127 TRUE 4.10267e-06 ENSE00001672473_020 ENSE00001672473 020 11 57561428 57561597 + 54 72 44 T G 57561562 1287 135 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTGTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794089 57794090 57794090 downstr_intron 9 1.209302 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTGTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant NA NA NA NA NA 2988 6686 0.9440278 0.9498939 0.9469608 0.8292488 0.8364169 0.9378419 0.8440486 NA NA 0.006185897 0.1058453 0.8328328 0.8909452 NA 0.05601558 NA FALSE NA 0.001 0.346 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs370894288 1 NA G:0 G:0.0001 TTT T,G 8.278e-06 11:57794090 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 2.398857 0.22038 0.12113 0.078448 0.8253984 0.212373 0.9953127 TRUE 4.10277e-06 ENSE00001672473_021 ENSE00001672473 021 11 57561428 57561597 + 54 72 44 G C 57561565 1288 138 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGCCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794092 57794093 57794093 downstr_intron 12 1.27907 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGCCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 42 52 0.85 0.85 0.85 2119 806 0.9529014 0.9624906 0.957696 0.8292488 0.8364169 0.9378419 0.8440486 0.02075125 0.01358313 0.0150595 0.118442 0.8328328 0.8909452 0.01716719 0.06675076 0.04958357 FALSE FALSE 0.003 0.741 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA GGC G,C 8.278e-06 11:57794093 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 1.782948 0.18033 0.15854 0.078448 0.7806508 0.148885 0.9953127 TRUE 8.20627e-06 ENSE00001672473_022 ENSE00001672473 022 11 57561428 57561597 + 54 72 44 C T 57561566 1289 139 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGTTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794093 57794094 57794094 downstr_intron 13 1.302326 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGTTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 41 60 0.794605 0.85 0.8223025 602 783 0.9688369 0.943274 0.9560555 0.8292488 0.8364169 0.9378419 0.8440486 -0.03464373 0.01358313 0.03099502 0.09922543 0.8328328 0.8909452 -0.0105303 0.06511022 0.07564052 FALSE FALSE 0 -1.062 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA GCT C,T 1.656e-05 11:57794094 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 2.434983 0.10739 0.01914 0.078448 0.8371188 0.135259 0.9953127 TRUE 6.56507e-05 ENSE00001672473_023 ENSE00001672473 023 11 57561428 57561597 + 54 72 44 C G 57561568 1290 141 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTGAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794095 57794096 57794096 downstr_intron 15 1.348837 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTGAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 58 128 0.85 0.85 0.85 1039 4461 0.8704725 0.9334549 0.9019637 0.8292488 0.8364169 0.9378419 0.8440486 0.02075125 0.01358313 -0.06736942 0.08940635 0.8328328 0.8909452 0.01716719 0.01101846 0.006148725 FALSE FALSE 0 -0.232 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 1 NA TCA C,G 2.483e-05 11:57794096 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 2.100182 0.17406 0.12339 0.078448 0.7455042 0.135259 0.9953127 TRUE 1.23105e-05 ENSE00001672473_024 ENSE00001672473 024 11 57561428 57561597 + 54 72 44 G T 57561571 1291 144 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAATACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 57794098 57794099 57794099 downstr_intron 18 1.418605 ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAATACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC mutant 17 48 0.9304472 0.85 0.8902236 169 1184 0.9549444 0.9517605 0.9533524 0.8292488 0.8364169 0.9378419 0.8440486 0.1011984 0.01358313 0.01710247 0.1077119 0.8328328 0.8909452 0.05739079 0.0624072 0.005016412 FALSE FALSE 0.016 1.295 . intron_variant MODIFIER CTNND1 HGNC 2515 ENST00000533189 1/1 rs373862115 1 NA T:0.0003 T:0 AGA G,T 8.278e-06 11:57794099 CTNND1 HGNC Symbol protein_coding 66303 ENSG00000198561 ENSE00003469970 intron_variant 1.659514 0.19483 0.17605 0.078448 0.7972646 0.135259 0.9953127 TRUE 2.87262e-05 ENSE00001672473_BRK ENSE00001672473 BRK 11 57561428 57561597 + 54 72 44 A,G; T,T NA NA NA ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCTTAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGCCAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC 57793955 57794125 NA NA NA NA NA NA ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCTTAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGCCAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC ATAGAGCAAAAGAAGGCCACAAAATGAATTGTCTTCTTGTGGGCTGTGTTTCAGAACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTTTCAGATTTGAAACTCAACGGACCCCAGGTAATTCTTTGGCTCAAGACCTGGGTTGCTTCATTCATATTTTC control 26 82 0 0 0 585 775 0 0.00415735 0.002078675 0.8292488 0.8364169 0.9378419 0.8440486 -0.8292488 -0.8364169 -0.9378419 -0.8398912 0.8328328 0.8909452 -0.8328328 -0.8888666 0.05603376 TRUE TRUE NA NA NA NA NA CTNND1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNND1 NA NA NA ENSG00000198561 ENSE00003469970 NA NA NA NA NA NA NA 0.9953127 TRUE NA ENSE00001672515_000 ENSE00001672515 000 19 17729664 17729833 - 51 57 62 NA NA NA NA NA CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 NA NA NA NA NA NA TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG natural 35 42 0.9989614 0.9997476 0.9993545 851 502 0.7968352 0.9819952 0.8894152 0.9989614 0.9997476 0.7968352 0.9819952 0 0 0 0 0.9993545 0.8894152 0 0 0 FALSE FALSE NA NA NA NA NA UNC13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13A NA NA NA ENSG00000130477 ENSE00001672515 NA NA NA NA NA NA NA 0.9999867 TRUE NA ENSE00001672515_001 ENSE00001672515 001 19 17729664 17729833 - 51 57 62 G T 17729676 1693 158 CATGAGTTTGGGTGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618866 17618867 17618867 downstr_intron 39 1.78 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCACCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 60 20 0.9789109 1 0.9894554 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1820757 0.0180048 0.9993545 0.8894152 NA 0.1000402 NA FALSE NA 0.001 -0.021 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 38/42 1 NA GGG G,T 8.26e-06 19:17618867 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 intron_variant -0.018023 0.26179 0.02842 0.060467 0.4856518 0.0725737 0.9999867 TRUE 4.06521e-06 ENSE00001672515_002 ENSE00001672515 002 19 17729664 17729833 - 51 57 62 C T 17729679 1694 155 CATGAGTTTGGGGGGTAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618869 17618870 17618870 downstr_intron 36 1.72 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTACCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 29 197 0.9362188 0.9943383 0.9652786 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1393836 0.0123431 0.9993545 0.8894152 NA 0.07586336 NA FALSE NA 0.004 0.714 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 38/42 1 NA GCA C,T 1.652e-05 19:17618870 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 intron_variant 0.163911 0.15039 0.00174 0.060467 0.2407138 0.0725737 0.9999867 TRUE 8.13292e-06 ENSE00001672515_003 ENSE00001672515 003 19 17729664 17729833 - 51 57 62 C T 17729683 1695 151 CATGAGTTTGGGGGGCAGTTCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618873 17618874 17618874 downstr_intron 32 1.64 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGAACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 487 312 0.9958107 0.9991416 0.9974761 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1989755 0.01714636 0.9993545 0.8894152 NA 0.1080609 NA FALSE NA 0 0.014 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 38/42 1 NA TCC C,T 8.259e-06 19:17618874 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 intron_variant 0.27358 0.15266 0.01378 0.060467 0.3129672 0.0725737 0.9999867 TRUE 1.62516e-05 ENSE00001672515_004 ENSE00001672515 004 19 17729664 17729833 - 51 57 62 C T 17729689 1696 145 CATGAGTTTGGGGGGCAGTCCCTCATGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618879 17618880 17618880 downstr_intron 26 1.52 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCATGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 726 160 0.9971164 1 0.9985582 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.2002812 0.0180048 0.9993545 0.8894152 NA 0.109143 NA FALSE NA 0 -0.72 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 38/42 rs199696476 1 NA ACG C,T 4.129e-05 19:17618880 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 intron_variant 0.050537 0.14545 0.01091 0.060467 0.2926368 0.0725737 0.9999867 TRUE 2.03105e-05 ENSE00001672515_006 ENSE00001672515 006 19 17729664 17729833 - 51 57 62 C T 17729703 1698 131 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCTCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618893 17618894 17618894 downstr_intron 12 1.24 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGAGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 116 332 0.9914701 1 0.995735 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1946349 0.0180048 0.9993545 0.8894152 NA 0.1063198 NA FALSE NA 0 0.042 rs79759760 intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 38/42 rs79759760 1 T:0.0186 T:0.0666 T:0.0058 NA T:0 T:0.001 T:0 T:0.0519 T:0.0001 CCC C,T 0.004855 19:17618894 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 intron_variant 0.39093 0.15899 0.02244 0.060467 0.4675026 0.123341 0.9999867 TRUE 0.00380929 ENSE00001672515_007 ENSE00001672515 007 19 17729664 17729833 - 51 57 62 C T 17729704 1699 130 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCTCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618894 17618895 17618895 downstr_intron 11 1.22 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGAGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 15 178 0.95 0.9525519 0.9512759 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1531648 -0.02944332 0.9993545 0.8894152 NA 0.06186073 NA FALSE NA 0.003 0.272 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 38/42 1 NA CCC C,T 8.256e-06 19:17618895 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 intron_variant 0.439004 0.17013 0.01399 0.060467 0.4876777 0.136368 0.9999867 TRUE 4.06091e-06 ENSE00001672515_009 ENSE00001672515 009 19 17729664 17729833 - 51 57 62 C T 17729739 1701 95 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGTTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618929 17618930 17618930 exon -25 0.5789474 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAACTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 122 169 1 1 1 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.2031648 0.0180048 0.9993545 0.8894152 NA 0.1105848 NA FALSE NA 0.627 -0.014 rs191793337 synonymous_variant LOW UNC13A HGNC 23150 ENST00000252773 38/43 rs191793337 1 T:0.0022 T:0.0061 T:0.0014 NA T:0 T:0.002 T:0 T:0.0074 T:0.0001 GCT C,T 0.0008174 19:17618930 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 synonymous_variant 1.425375 0.95475 0.40907 0.650006 0.4784499 0 0.9999867 TRUE 0.000690361 ENSE00001672515_010 ENSE00001672515 010 19 17729664 17729833 - 51 57 62 A G 17729751 1702 83 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCGTTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618941 17618942 17618942 exon 21 0.3684211 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAACGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 35 127 1 0.8326975 0.9163488 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.2031648 -0.1492977 0.9993545 0.8894152 NA 0.02693356 NA FALSE NA 0.679 0.167 . synonymous_variant LOW UNC13A HGNC 23150 ENST00000252773 38/43 rs377686256 1 NA G:0.0002 G:0.0001 CAT A,G 5.781e-05 19:17618942 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 synonymous_variant 0.794973 0.95972 0.72833 0.650006 0.7472312 0 0.9999867 TRUE 4.46708e-05 ENSE00001672515_011 ENSE00001672515 011 19 17729664 17729833 - 51 57 62 T C 17729752 1703 82 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCACTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618942 17618943 17618943 exon 20 0.3508772 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAGTGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 44 145 1 0.9541544 0.9770772 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.2031648 -0.0278408 0.9993545 0.8894152 NA 0.08766199 NA FALSE NA 0.989 3.983 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:17618943 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 missense_variant 3.058466 0.9882 0.94798 0.650006 0.9490312 0 0.9999867 TRUE 3.65488e-05 ENSE00001672515_012 ENSE00001672515 012 19 17729664 17729833 - 51 57 62 T A 17729752 1704 82 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCATTGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG 17618854 17619024 17618942 17618943 17618943 exon 20 0.3508772 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCATTGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 18 89 1 0.9928514 0.9964257 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.2031648 0.01085617 0.9993545 0.8894152 NA 0.1070105 NA FALSE NA 0.989 3.983 NA NA NA UNC13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13A NA NA NA ENSG00000130477 ENSE00001672515 missense_variant 5.758315 0.98848 0.97759 0.650006 0.982609 0 0.9999867 TRUE 4.06098e-06 ENSE00001672515_013 ENSE00001672515 013 19 17729664 17729833 - 51 57 62 G A 17729757 1705 77 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAAATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618947 17618948 17618948 exon 15 0.2631579 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATTTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 70 315 0.9257757 0.9490108 0.9373933 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1289405 -0.03298441 0.9993545 0.8894152 NA 0.04797804 NA FALSE NA 0.997 0.691 . synonymous_variant LOW UNC13A HGNC 23150 ENST00000252773 38/43 rs370625317 1 NA A:0 A:0.0001 AGA G,A 8.258e-06 19:17618948 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 synonymous_variant 1.94583 0.96445 0.83447 0.650006 0.7566819 0 0.9999867 TRUE 2.03051e-05 ENSE00001672515_014 ENSE00001672515 014 19 17729664 17729833 - 51 57 62 A G 17729758 1706 76 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGGTCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618948 17618949 17618949 exon 14 0.245614 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGACCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 40 17 0.988104 0.8 0.894052 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1912688 -0.1819952 0.9993545 0.8894152 NA 0.004636806 NA FALSE NA 1 8.938 . missense_variant MODERATE UNC13A HGNC 23150 ENST00000252773 38/43 rs373988526 1 possibly_damaging(0.763) NA G:0 G:0.0001 GAT A,G 8.258e-06 19:17618949 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 missense_variant 6.060175 0.98875 0.99391 0.650006 0.9975145 0 0.9999867 TRUE 4.06105e-06 ENSE00001672515_015 ENSE00001672515 015 19 17729664 17729833 - 51 57 62 T A 17729759 1707 75 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGTTCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG 17618854 17619024 17618949 17618950 17618950 exon 13 0.2280702 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGTTCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 873 122 0.945108 0.9879186 0.9665133 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1482728 0.005923405 0.9993545 0.8894152 NA 0.07709809 NA FALSE NA 1 5.915 . missense_variant MODERATE UNC13A HGNC 23150 ENST00000252773 38/43 1 probably_damaging(0.938) NA ATC T,A 8.259e-06 19:17618950 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 missense_variant 6.732579 0.98848 0.98571 0.650006 0.9879305 0 0.9999867 TRUE 4.06105e-06 ENSE00001672515_016 ENSE00001672515 016 19 17729664 17729833 - 51 57 62 C G 17729760 1708 74 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATGATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618950 17618951 17618951 exon 12 0.2105263 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATCATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 67 43 1 0.9925904 0.9962952 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.2031648 0.0105952 0.9993545 0.8894152 NA 0.10688 NA FALSE NA 1 0.685 . missense_variant MODERATE UNC13A HGNC 23150 ENST00000252773 38/43 1 benign(0.228) NA TCA C,G 8.259e-06 19:17618951 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 missense_variant 3.135744 0.9694 0.68534 0.650006 0.9836852 0 0.9999867 TRUE 4.06105e-06 ENSE00001672515_020 ENSE00001672515 020 19 17729664 17729833 - 51 57 62 G A 17729796 1712 38 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGATGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618986 17618987 17618987 upstr_intron -25 -0.3870968 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCATCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 118 130 0.9931793 1 0.9965897 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1963441 0.0180048 0.9993545 0.8894152 NA 0.1071744 NA FALSE NA 0 -0.059 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:17618987 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 non_coding_transcript_exon_variant 2.205196 0.32373 0.02603 0 0.8736364 0.135296 0.9999867 TRUE 4.06322e-06 ENSE00001672515_021 ENSE00001672515 021 19 17729664 17729833 - 51 57 62 G T 17729796 1713 38 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGTTGAGGGCAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618986 17618987 17618987 upstr_intron -25 -0.3870968 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCAACCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 253 89 0.8787109 0.998271 0.9384909 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.08187564 0.01627582 0.9993545 0.8894152 NA 0.04907573 NA FALSE NA 0 -0.059 NA NA NA UNC13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13A NA NA NA ENSG00000130477 ENSE00001672515 non_coding_transcript_exon_variant 2.030908 0.37221 0.08059 0 0.9229505 0.135296 0.9999867 TRUE 8.12645e-06 ENSE00001672515_022 ENSE00001672515 022 19 17729664 17729833 - 51 57 62 G A 17729802 1714 32 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGACAGGGGTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618992 17618993 17618993 upstr_intron -31 -0.483871 TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGTCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 78 101 0.9940478 1 0.9970239 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1972126 0.0180048 0.9993545 0.8894152 NA 0.1076087 NA FALSE NA 0 0.489 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 37/42 rs374454360 1 NA A:0 A:0.0001 GGC G,A 8.262e-06 19:17618993 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 non_coding_transcript_exon_variant 2.533849 0.31192 0.04366 0.21705 0.8363468 0.658583 0.9999867 TRUE 4.06524e-06 ENSE00001672515_025 ENSE00001672515 025 19 17729664 17729833 - 51 57 62 G T 17729808 1717 26 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGTTGCTACAGCTGACACTCCAGCCCCA 17618854 17619024 17618998 17618999 17618999 upstr_intron -37 -0.5806452 TGGGGCTGGAGTGTCAGCTGTAGCAACCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 135 135 1 0.9929051 0.9964525 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.2031648 0.01090986 0.9993545 0.8894152 NA 0.1070373 NA FALSE NA 0 -0.057 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 37/42 rs368569563 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 GGT G,T 3.305e-05 19:17618999 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 non_coding_transcript_exon_variant -0.164518 0.13606 0.02115 0.21705 0.5082936 0.135296 0.9999867 TRUE 2.84866e-05 ENSE00001672515_027 ENSE00001672515 027 19 17729664 17729833 - 51 57 62 C G 17729814 1719 20 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTAGAGCTGACACTCCAGCCCCA 17618854 17619024 17619004 17619005 17619005 upstr_intron -43 -0.6774194 TGGGGCTGGAGTGTCAGCTCTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 40 48 0.9843094 0.9967642 0.9905368 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1874742 0.014769 0.9993545 0.8894152 NA 0.1011216 NA FALSE NA 0 -1.441 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 37/42 1 NA ACA C,G 8.262e-06 19:17619005 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 non_coding_transcript_exon_variant 0.540862 0.13384 0.03342 0.21705 0.780023 0.202733 0.9999867 TRUE 4.07717e-06 ENSE00001672515_028 ENSE00001672515 028 19 17729664 17729833 - 51 57 62 G A 17729816 1720 18 CATGAGTTTGGGGGGCAGTCCCTCACGCCATAATCTATCCCCACTCCTCACCTTGAGTTTGGACAGCTGACCCAGCTCCTTGGCTGCATTGAAGATCATCTGGGTTCCCTGCAGGTAACAACATACAGCTGGGTGAGGGCAGGGGTGCTACAACTGACACTCCAGCCCCA 17618854 17619024 17619006 17619007 17619007 upstr_intron -45 -0.7096774 TGGGGCTGGAGTGTCAGTTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG mutant NA NA NA NA NA 68 33 0.9391172 1 0.9695586 0.9989614 0.9997476 0.7968352 0.9819952 NA NA 0.1422819 0.0180048 0.9993545 0.8894152 NA 0.08014337 NA FALSE NA 0 0.067 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 37/42 1 NA AGC G,A 2.479e-05 19:17619007 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00001672515 non_coding_transcript_exon_variant 0.710891 0.16263 0.02023 0.21705 0.7129706 0.202733 0.9999867 TRUE 1.633e-05 ENSE00001672515_BRK ENSE00001672515 BRK 19 17729664 17729833 - 51 57 62 A,G; T,T NA NA NA TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCTTGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGCCGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG 17618854 17619024 NA NA NA NA NA NA TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCTTGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGCCGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG TGGGGCTGGAGTGTCAGCTGTAGCACCCCTGCCCTCACCCAGCTGTATGTTGTTACCTGCAGGGAACCCAGATGATCTTCAATGCAGCCAAGGAGCTGGGTCAGCTGTCCAAACTCAAGGTGAGGAGTGGGGATAGATTATGGCGTGAGGGACTGCCCCCCAAACTCATG control NA NA NA NA NA 19 145 0 0 0 0.9989614 0.9997476 0.7968352 0.9819952 NA NA -0.7968352 -0.9819952 0.9993545 0.8894152 NA -0.8894152 NA TRUE NA NA NA NA NA NA UNC13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13A NA NA NA ENSG00000130477 ENSE00001672515 NA NA NA NA NA NA NA 0.9999867 TRUE NA ENSE00001672550_000 ENSE00001672550 000 14 100759593 100759762 - 38 84 48 NA NA NA NA NA GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 NA NA NA NA NA NA GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG natural 19 26 0.999551 0.9930855 0.9963183 1462 1954 0.9955837 0.9952395 0.9954116 0.999551 0.9930855 0.9955837 0.9952395 0 0 0 0 0.9963183 0.9954116 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003653908 NA NA NA NA NA NA NA NA NA NA ENSE00001672550_034 ENSE00001672550 034 14 100759593 100759762 - 38 84 48 A T 100759738 1585 25 GTGCTCTGGTCCTGCCTGCCTGCCACTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293400 100293401 100293401 upstr_intron -24 -0.4791667 GTGCTCTGGTCCTGCCTGCCTGCCACTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 78 161 1 0.9990164 0.9995082 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.003776958 0.9963183 0.9954116 NA 0.004096653 NA FALSE NA 0 0.143 NA NA NA SLC25A29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC25A29 NA NA NA ENSG00000197119 ENSE00003653908 5_prime_UTR_variant 0.105062 0.14686 0.02348 0.184171 0.7686245 0.0754327 0.006060973 FALSE 2.12536e-05 ENSE00001672550_BRK ENSE00001672550 BRK 14 100759593 100759762 - 38 84 48 A,G; T,T NA NA NA GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCTTGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCCCGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 NA NA NA NA NA NA GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCTTGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCCCGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG control 62 125 0.02107296 0 0.01053648 NA NA NA NA NA 0.999551 0.9930855 0.9955837 0.9952395 -0.9784781 -0.9930855 NA NA 0.9963183 0.9954116 -0.9857818 NA NA NA TRUE NA NA NA NA NA SLC25A29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC25A29 NA NA NA ENSG00000197119 ENSE00003653908 NA NA NA NA NA NA NA 0.006060973 FALSE NA ENSE00001673549_000 ENSE00001673549 000 10 121156156 121156325 + 51 78 41 NA NA NA NA NA CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 NA NA NA NA NA NA AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG natural 234 111 0.962108 0.995783 0.9789455 3437 2770 0.9090249 0.9331779 0.9211014 0.962108 0.995783 0.9090249 0.9331779 0 0 0 0 0.9789455 0.9211014 0 0 0 FALSE FALSE NA NA NA NA NA GRK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRK5 NA NA NA ENSG00000198873 ENSE00003650498 NA NA NA NA NA NA NA 0.9841077 TRUE NA ENSE00001673549_001 ENSE00001673549 001 10 121156156 121156325 + 51 78 41 C T 121156173 2746 18 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGATTTGCTCATGAGCTTCT 119396643 119396813 119396660 119396661 119396661 upstr_intron -34 -0.6470588 AGAAGCTCATGAGCAAATCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 1708 219 0.9983186 0.9732523 0.9857855 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.0892937 0.0400744 0.9789455 0.9211014 NA 0.06468405 NA FALSE NA 0 -0.527 rs144519773 intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 2/14 rs144519773 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACC C,T 8.237e-06 10:119396661 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant -0.316688 0.12 0.01046 0 0.1311731 0.0625256 0.9841077 TRUE 4.06755e-06 ENSE00001673549_002 ENSE00001673549 002 10 121156156 121156325 + 51 78 41 T A 121156178 2747 23 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATTACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396665 119396666 119396666 upstr_intron -29 -0.5490196 AGAAGCTCATGAGCAAACCTGTAATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 387 645 1 0.9997547 0.9998774 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.09097511 0.06657678 0.9789455 0.9211014 NA 0.07877595 NA FALSE NA 0 -0.058 . intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 2/14 rs571556447 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TTA T,A 8.236e-06 10:119396666 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant 0.410422 0.19908 0.1972 0 0.4557231 0.0625256 0.9841077 TRUE 4.06415e-06 ENSE00001673549_003 ENSE00001673549 003 10 121156156 121156325 + 51 78 41 T C 121156180 2748 25 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAGTAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396667 119396668 119396668 upstr_intron -27 -0.5098039 AGAAGCTCATGAGCAAACCTGTTACTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 308 1627 0.9989261 0.8994166 0.9491714 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.08990126 -0.03376134 0.9789455 0.9211014 NA 0.02806996 NA FALSE NA 0 -2.3 . intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 2/14 1 NA ATT T,C 8.236e-06 10:119396668 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant -0.09043 0.15806 0.07703 0 0.4338946 0.0625256 0.9841077 TRUE 1.21908e-05 ENSE00001673549_004 ENSE00001673549 004 10 121156156 121156325 + 51 78 41 T C 121156186 2749 31 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAGGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396673 119396674 119396674 upstr_intron -21 -0.3921569 AGAAGCTCATGAGCAAACCTGTTATTGTTCCTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 2149 122 0.8345735 0.9973984 0.915986 0.962108 0.995783 0.9090249 0.9331779 NA NA -0.07445136 0.06422049 0.9789455 0.9211014 NA -0.005115437 NA FALSE NA 0 -0.07 . intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 2/14 1 NA CTT T,C 8.236e-06 10:119396674 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant -0.117058 0.17439 0.1348 0 0.5015745 0.0668055 0.9841077 TRUE 8.12506e-06 ENSE00001673549_005 ENSE00001673549 005 10 121156156 121156325 + 51 78 41 C G 121156198 2750 43 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACACAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396685 119396686 119396686 upstr_intron -9 -0.1568627 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTGTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 1160 1020 0.9217226 0.999551 0.9606368 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.01269772 0.06637307 0.9789455 0.9211014 NA 0.0395354 NA FALSE NA 0.999 0.439 . intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 2/14 1 NA TCT C,G 8.236e-06 10:119396686 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant 0.056213 0.72567 0.78288 0 0.5265991 0.0491113 0.9841077 TRUE 1.21903e-05 ENSE00001673549_006 ENSE00001673549 006 10 121156156 121156325 + 51 78 41 C T 121156208 2751 53 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTACCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396695 119396696 119396696 exon 2 0.02564103 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGTAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 946 873 0.9999565 1 0.9999782 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.0909316 0.06682206 0.9789455 0.9211014 NA 0.07887683 NA FALSE NA 1 3.443 . splice_region_variant&5_prime_UTR_variant LOW GRK5 HGNC 4544 ENST00000369108 3/15 1 NA GCA C,T 8.236e-06 10:119396696 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 missense_variant 2.589978 0.94369 0.85131 0.706548 0.9983636 0 0.9841077 TRUE NA ENSE00001673549_007 ENSE00001673549 007 10 121156156 121156325 + 51 78 41 A G 121156214 2752 59 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCACATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396701 119396702 119396702 exon 8 0.1025641 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATGTGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 186 158 1 0.9676418 0.9838209 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.09097511 0.03446389 0.9789455 0.9211014 NA 0.0627195 NA FALSE NA 1 5.934 . 5_prime_UTR_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 3/15 1 NA TAT A,G 1.647e-05 10:119396702 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 missense_variant 5.141085 0.93782 0.92314 0.706548 0.9976134 0 0.9841077 TRUE 1.62427e-05 ENSE00001673549_008 ENSE00001673549 008 10 121156156 121156325 + 51 78 41 T C 121156230 2753 75 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCGTCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396717 119396718 119396718 exon 24 0.3076923 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGACGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 872 814 0.9976597 0.9999532 0.9988065 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.08863478 0.06677529 0.9789455 0.9211014 NA 0.07770504 NA FALSE NA 1 5.126 . 5_prime_UTR_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 3/15 rs527735295 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATG T,C 8.236e-06 10:119396718 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 synonymous_variant -0.090134 0.93441 0.89131 0.730579 0.6318036 0 0.9841077 TRUE 4.06058e-06 ENSE00001673549_009 ENSE00001673549 009 10 121156156 121156325 + 51 78 41 G A 121156251 2754 96 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTTCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396738 119396739 119396739 exon -34 0.5769231 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGAAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 884 94 0.9982149 1 0.9991075 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.08919002 0.06682206 0.9789455 0.9211014 NA 0.07800604 NA FALSE NA 1 1.276 . 5_prime_UTR_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 3/15 1 NA GGA G,A 2.471e-05 10:119396739 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 synonymous_variant 0.636486 0.88253 0.71073 0.730579 0.7134351 0 0.9841077 TRUE 2.8425e-05 ENSE00001673549_011 ENSE00001673549 011 10 121156156 121156325 + 51 78 41 A G 121156291 2756 136 CCTCCTGTGCCACCTGCTGTGGGGTTTGGAAGACCCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396778 119396779 119396779 downstr_intron 7 1.175 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGGGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 1000 642 0.9793322 0.9937909 0.9865615 0.962108 0.995783 0.9090249 0.9331779 NA NA 0.07030728 0.06061292 0.9789455 0.9211014 NA 0.0654601 NA FALSE NA 0.961 0.085 . splice_region_variant&intron_variant LOW GRK5 HGNC 4544 ENST00000369108 3/14 1 NA GAG A,G 8.236e-06 10:119396779 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 splice_region_variant -0.245779 0.11426 0.09785 0.101703 0.4289616 0.0782116 0.9841077 TRUE 4.06105e-06 ENSE00001673549_012 ENSE00001673549 012 10 121156156 121156325 + 51 78 41 T G 121156296 2757 141 CCTCCTGTGCCACCTGCTGTGGGGTTTGGCAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396783 119396784 119396784 downstr_intron 12 1.3 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTGCCAAACCCCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 428 347 0.8885286 0.9870193 0.937774 0.962108 0.995783 0.9090249 0.9331779 NA NA -0.02049631 0.05384138 0.9789455 0.9211014 NA 0.01667254 NA FALSE NA 0 0.057 . intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 3/14 rs566803771 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TTC T,G 8.236e-06 10:119396784 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant 0.077893 0.18135 0.06094 0.101703 0.4067952 0.0687856 0.9841077 TRUE 4.06151e-06 ENSE00001673549_013 ENSE00001673549 013 10 121156156 121156325 + 51 78 41 C T 121156304 2758 149 CCTCCTGTGCCACCTGCTGTGAGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396791 119396792 119396792 downstr_intron 20 1.5 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCTCACAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant NA NA NA NA NA 951 106 0.8500234 1 0.9250117 0.962108 0.995783 0.9090249 0.9331779 NA NA -0.05900147 0.06682206 0.9789455 0.9211014 NA 0.003910297 NA FALSE NA 0 -0.026 . intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 3/14 1 NA CCC C,T 8.236e-06 10:119396792 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant 0.247727 0.19459 0.11651 0.101703 0.363667 0.0687856 0.9841077 TRUE NA ENSE00001673549_014 ENSE00001673549 014 10 121156156 121156325 + 51 78 41 A G 121156306 2759 151 CCTCCTGTGCCACCTGCTGCGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396793 119396794 119396794 downstr_intron 22 1.55 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCGCAGCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant 11 13 0.9970208 0.992325 0.9946729 NA NA NA NA NA 0.962108 0.995783 0.9090249 0.9331779 0.03491283 -0.003457925 NA NA 0.9789455 0.9211014 0.01572745 NA NA NA FALSE 0 -0.426 . intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 3/14 1 NA CAC A,G 8.236e-06 10:119396794 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant 0.441562 0.18269 0.10839 0.101703 0.7024743 0.0687856 0.9841077 TRUE 4.06303e-06 ENSE00001673549_015 ENSE00001673549 015 10 121156156 121156325 + 51 78 41 G T 121156309 2760 154 CCTCCTGTGCCACCTGATGTGGGGTTTGGAAGACTCCTTACCTTTGGGGTGAGGTACTTGGTCATAATTTCCTTCCCTTTCTCTCCCAGTTTTTCATCTGGAGTAACTTCATATTCTGCCTAAAACAGAAGGAGAAAAAAGAACAATAACAGGTTTGCTCATGAGCTTCT 119396643 119396813 119396796 119396797 119396797 downstr_intron 25 1.625 AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACATCAGGTGGCACAGGAGG AGAAGCTCATGAGCAAACCTGTTATTGTTCTTTTTTCTCCTTCTGTTTTAGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATTATGACCAAGTACCTCACCCCAAAGGTAAGGAGTCTTCCAAACCCCACAGCAGGTGGCACAGGAGG mutant 10 24 0.9928522 0.9794728 0.9861625 3953 309 0.9664597 0.997822 0.9821409 0.962108 0.995783 0.9090249 0.9331779 0.03074419 -0.0163101 0.05743483 0.06464405 0.9789455 0.9211014 0.007217043 0.06103944 0.0538224 FALSE FALSE 0.003 0.132 . intron_variant MODIFIER GRK5 HGNC 4544 ENST00000369108 3/14 1 NA AGC G,T 1.647e-05 10:119396797 GRK5 HGNC Symbol protein_coding 252153 ENSG00000198873 ENSE00003650498 intron_variant 0.163137 0.18917 0.08612 0.101703 0.7089005 0.0687856 0.9841077 TRUE 1.62549e-05 ENSE00001674129_000 ENSE00001674129 000 10 98994944 98995113 - 30 99 41 NA NA NA NA NA TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT 97235186 97235356 NA NA NA NA NA NA TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT natural NA NA NA NA NA 414 275 0.9979948 0.9964635 0.9972291 NA NA 0.9979948 0.9964635 NA NA 0 0 NA 0.9972291 NA 0 NA FALSE NA NA NA NA NA NA ARHGAP19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGAP19 NA NA NA ENSG00000213390 ENSE00003551419 NA NA NA NA NA NA NA 1.63036e-07 FALSE NA ENSE00001674714_000 ENSE00001674714 000 10 133958963 133959132 + 59 63 48 NA NA NA NA NA AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 NA NA NA NA NA NA AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC natural 32 53 0.9977643 0.9943726 0.9960685 4191 1936 0.9902695 0.9931069 0.9916882 0.9977643 0.9943726 0.9902695 0.9931069 0 0 0 0 0.9960685 0.9916882 0 0 0 FALSE FALSE NA NA NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003519491 NA NA NA NA NA NA NA 0.05393183 FALSE NA ENSE00001674714_001 ENSE00001674714 001 10 133958963 133959132 + 59 63 48 T C 133958996 2933 34 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTCTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 132145491 132145492 132145492 upstr_intron -26 -0.4237288 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTCTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC mutant NA NA NA NA NA 859 29 0.9924033 1 0.9962017 0.9977643 0.9943726 0.9902695 0.9931069 NA NA 0.002133841 0.006893125 0.9960685 0.9916882 NA 0.004513483 NA FALSE NA 0 -0.173 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/13 1 NA TTT T,C 9.152e-06 10:132145492 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003519491 intron_variant -0.100553 0.17024 0.04834 0.056701 0.3007874 0.0448725 0.05393183 FALSE 6.48643e-06 ENSE00001674714_002 ENSE00001674714 002 10 133958963 133959132 + 59 63 48 T C 133959004 2934 42 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTCTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 132145499 132145500 132145500 upstr_intron -18 -0.2881356 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTCTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC mutant NA NA NA NA NA 131 543 1 1 1 0.9977643 0.9943726 0.9902695 0.9931069 NA NA 0.009730524 0.006893125 0.9960685 0.9916882 NA 0.008311825 NA FALSE NA 0 -0.04 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/13 1 NA TTT T,C 8.946e-06 10:132145500 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003519491 intron_variant -0.096137 0.17174 0.02162 0.056701 0.6697872 0.0945736 0.05393183 FALSE NA ENSE00001674714_004 ENSE00001674714 004 10 133958963 133959132 + 59 63 48 A G 133959025 2936 63 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATGTGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 132145520 132145521 132145521 exon 4 0.06349206 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATGTGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC mutant NA NA NA NA NA 895 28 0.9949969 1 0.9974984 0.9977643 0.9943726 0.9902695 0.9931069 NA NA 0.004727383 0.006893125 0.9960685 0.9916882 NA 0.005810254 NA FALSE NA 0.897 1.308 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/14 1 NA TAT A,G 1.721e-05 10:132145521 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003519491 missense_variant -1.407931 0.96864 0.86559 0.580535 0.2517734 0 0.05393183 FALSE 3.04692e-05 ENSE00001674714_005 ENSE00001674714 005 10 133958963 133959132 + 59 63 48 T C 133959026 2937 64 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATACGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 132145521 132145522 132145522 exon 5 0.07936508 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATACGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC mutant NA NA NA NA NA 54 1748 1 0.9990803 0.9995402 0.9977643 0.9943726 0.9902695 0.9931069 NA NA 0.009730524 0.005973442 0.9960685 0.9916882 NA 0.007851983 NA FALSE NA 0.956 1.003 rs143832937 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/14 rs143832937 1 NA C:0.0021 C:0 ATG T,C 5.166e-05 10:132145522 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003519491 missense_variant -0.671377 0.96915 0.65468 0.580535 0.3912575 0 0.05393183 FALSE 7.32073e-05 ENSE00001674714_008 ENSE00001674714 008 10 133958963 133959132 + 59 63 48 G A 133959059 2940 97 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCAGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 132145554 132145555 132145555 exon -26 0.6031746 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCAGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC mutant NA NA NA NA NA 170 306 1 1 1 0.9977643 0.9943726 0.9902695 0.9931069 NA NA 0.009730524 0.006893125 0.9960685 0.9916882 NA 0.008311825 NA FALSE NA 0.073 2.714 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/14 1 NA CGG G,A 1.702e-05 10:132145555 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003519491 missense_variant 2.816709 0.29387 0.24601 0.580535 0.9944764 0 0.05393183 FALSE NA ENSE00001674714_009 ENSE00001674714 009 10 133958963 133959132 + 59 63 48 G A 133959062 2941 100 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAAAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 132145557 132145558 132145558 exon -23 0.6507937 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAAAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC mutant NA NA NA NA NA 214 84 0.9778884 0.9392995 0.9585939 0.9977643 0.9943726 0.9902695 0.9931069 NA NA -0.01238109 -0.05380742 0.9960685 0.9916882 NA -0.03309425 NA FALSE NA 1 7.163 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/14 1 NA AGA G,A 8.526e-06 10:132145558 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003519491 missense_variant 2.590483 0.91183 0.9753 0.580535 0.9872372 0 0.05393183 FALSE NA ENSE00001674714_010 ENSE00001674714 010 10 133958963 133959132 + 59 63 48 C T 133959093 2942 131 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCTGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 132145588 132145589 132145589 downstr_intron 9 1.191489 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCTGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC mutant NA NA NA NA NA 391 581 0.9839294 0.9943567 0.9891431 0.9977643 0.9943726 0.9902695 0.9931069 NA NA -0.006340091 0.001249873 0.9960685 0.9916882 NA -0.002545109 NA FALSE NA 0 -1.369 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/13 rs367704696 1 NA T:0 T:0.0001 CCG C,T 1.747e-05 10:132145589 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003519491 intron_variant -0.074103 0.09079 0.00162 0.056701 0.6758494 0.0448725 0.05393183 FALSE NA ENSE00001674714_012 ENSE00001674714 012 10 133958963 133959132 + 59 63 48 C T 133959120 2944 158 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTTGCTCTATGCTCC 132145458 132145628 132145615 132145616 132145616 downstr_intron 36 1.765957 AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTTGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC mutant NA NA NA NA NA 11 492 1 0.990232 0.995116 0.9977643 0.9943726 0.9902695 0.9931069 NA NA 0.009730524 -0.002874891 0.9960685 0.9916882 NA 0.003427817 NA FALSE NA 0 -1.508 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 3/13 rs372207623 1 NA T:0 T:0.0001 TCG C,T 6.401e-05 10:132145616 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003519491 intron_variant -0.152227 0.06566 0.00224 0.056701 0.5676241 0.0510595 0.05393183 FALSE NA ENSE00001674714_BRK ENSE00001674714 BRK 10 133958963 133959132 + 59 63 48 A,G; T,T NA NA NA AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCATTGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGCCGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC 132145458 132145628 NA NA NA NA NA NA AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCATTGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGCCGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC AACGTTGGTTTATGAGTTCCTCCCTCAGTGTCTTTATTTCTTTCAATTCCATTTGCAAGGATATGAAGTGGATTGAAGAGAAGCAGGCACTGTACCGGAGAAATCAAGAGCTTGTGGAAAAGGTGAGCCCCGAACCCCTGGAGGCCCTGGCAGGACTCGCTCTATGCTCC control NA NA NA NA NA 529 233 0 0 0 0.9977643 0.9943726 0.9902695 0.9931069 NA NA -0.9902695 -0.9931069 0.9960685 0.9916882 NA -0.9916882 NA TRUE NA NA NA NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003519491 NA NA NA NA NA NA NA 0.05393183 FALSE NA ENSE00001676110_000 ENSE00001676110 000 15 29673928 29674097 - 51 57 62 NA NA NA NA NA TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA 29381723 29381893 NA NA NA NA NA NA TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA natural NA NA NA NA NA 402 1869 0.9713549 0.9988887 0.9851218 NA NA 0.9713549 0.9988887 NA NA 0 0 NA 0.9851218 NA 0 NA FALSE NA NA NA NA NA NA FAM189A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM189A1 NA NA NA ENSG00000104059 ENSE00003533998 NA NA NA NA NA NA NA NA NA NA ENSE00001676110_001 ENSE00001676110 001 15 29673928 29674097 - 51 57 62 C T 29674008 194 90 TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCATCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA 29381723 29381893 29381803 29381804 29381804 exon 28 0.4912281 TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCATCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA mutant NA NA NA NA NA 155 822 0.9868975 0.9985989 0.9927482 NA NA 0.9713549 0.9988887 NA NA 0.01554255 -0.0002898903 NA 0.9851218 NA 0.007626328 NA FALSE NA 0.985 4.118 . missense_variant MODERATE FAM189A1 HGNC 29075 ENST00000261275 2/11 rs200001561 1 tolerated(0.09) benign(0.003) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 0.0001684 15:29381804 FAM189A1 HGNC Symbol protein_coding 450469 ENSG00000104059 ENSE00003533998 missense_variant 2.454573 0.9734 0.83587 0.615465 0.9981003 0 NA NA 0.000363563 ENSE00001676110_002 ENSE00001676110 002 15 29673928 29674097 - 51 57 62 T A 29674021 195 77 TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGTCTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA 29381723 29381893 29381816 29381817 29381817 exon 15 0.2631579 TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGTCTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA mutant NA NA NA NA NA 22 977 1 0.9296257 0.9648129 NA NA 0.9713549 0.9988887 NA NA 0.02864509 -0.069263 NA 0.9851218 NA -0.02030895 NA FALSE NA 0.951 -0.719 . synonymous_variant LOW FAM189A1 HGNC 29075 ENST00000261275 2/11 1 NA GTC T,A 0.0001261 15:29381817 FAM189A1 HGNC Symbol protein_coding 450469 ENSG00000104059 ENSE00003533998 synonymous_variant 0.657261 0.94734 0.32546 0.615465 0.7329888 0 NA NA 5.38445e-05 ENSE00001676110_003 ENSE00001676110 003 15 29673928 29674097 - 51 57 62 T C 29674052 196 46 TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTGTCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA 29381723 29381893 29381847 29381848 29381848 upstr_intron -17 -0.2580645 TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTGTCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA mutant NA NA NA NA NA 339 260 0.9624489 1 0.9812245 NA NA 0.9713549 0.9988887 NA NA -0.008905971 0.001111253 NA 0.9851218 NA -0.003897359 NA FALSE NA 0 -2.907 rs145029356 intron_variant MODIFIER FAM189A1 HGNC 29075 ENST00000261275 1/10 rs145029356 1 C:0.0018 C:0.0061 C:0 NA C:0 C:0.001 C:0 C:0.0058 C:0 ATA T,C 0.0006241 15:29381848 FAM189A1 HGNC Symbol protein_coding 450469 ENSG00000104059 ENSE00003533998 intron_variant -0.14602 0.14594 0.01944 0.053691 0.4274121 0.0944075 NA NA 0.00023563 ENSE00001676110_004 ENSE00001676110 004 15 29673928 29674097 - 51 57 62 G A 29674060 197 38 TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACTTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA 29381723 29381893 29381855 29381856 29381856 upstr_intron -25 -0.3870968 TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACTTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA mutant NA NA NA NA NA 119 1036 1 0.998853 0.9994265 NA NA 0.9713549 0.9988887 NA NA 0.02864509 -3.570539e-05 NA 0.9851218 NA 0.01430469 NA FALSE NA 0.013 0.027 rs111293020 intron_variant MODIFIER FAM189A1 HGNC 29075 ENST00000261275 1/10 rs111293020 1 A:0.0104 A:0.0386 A:0.0014 NA A:0 A:0 A:0 AGG G,A 0.003104 15:29381856 FAM189A1 HGNC Symbol protein_coding 450469 ENSG00000104059 ENSE00003533998 intron_variant 0.579645 0.13709 0.00556 0.053691 0.8685808 0.0944075 NA NA 0.0022787 ENSE00001676110_005 ENSE00001676110 005 15 29673928 29674097 - 51 57 62 C T 29674073 198 25 TTTTGATTGCCCATGCAAGGTTTCAGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA 29381723 29381893 29381868 29381869 29381869 upstr_intron -38 -0.5967742 TTTTGATTGCCCATGCAAGGTTTCAGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA TTTTGATTGCCCATGCAAGGTTTCGGAAGCATCTCACCTTCCTGTATCTTTTGTCCTTCCAGGTGCTGCTGTCGGGACTCATAGGTGTCGTCTCCTGGAAGAGGCCTCTCTCCCTTGTGGTAAGTGGCACCTGCGTCTCCAGGTGGCCTTGGAGCAGGGTTCCACCTTCA mutant NA NA NA NA NA 130 477 1 0.9973229 0.9986615 NA NA 0.9713549 0.9988887 NA NA 0.02864509 -0.001565837 NA 0.9851218 NA 0.01353963 NA FALSE NA 0 -0.99 . intron_variant MODIFIER FAM189A1 HGNC 29075 ENST00000261275 1/10 1 NA CCG C,T 4.104e-05 15:29381869 FAM189A1 HGNC Symbol protein_coding 450469 ENSG00000104059 ENSE00003533998 intron_variant 0.09808 0.11377 0.00457 0.053691 0.7861229 0.0688042 NA NA 1.34975e-05 ENSE00001678695_000 ENSE00001678695 000 3 40208600 40208769 + 50 81 39 NA NA NA NA NA CAGGAAACTGCAGCCATCCCACTGCCAGGACCCACCTACCTTCTGCAGGATTGTCGTGGCCAGTTCCTCAGTTAGCTCCTCCTTGTGGTCCCGCAGGTAACTGGCCTCATTTTGCTTGTCCTGAGGAGGGAAGAGAATGGCTGTGTGCTGTGGGTGGATTTGGGGTGACT 40167108 40167278 NA NA NA NA NA NA AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG natural 27 36 0.7620135 0.6219014 0.6919574 1296 1502 0.9864917 0.9985038 0.9924977 0.7620135 0.6219014 0.9864917 0.9985038 0 0 0 0 0.6919574 0.9924977 0 0 0 FALSE FALSE NA NA NA NA NA MYRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYRIP NA NA NA ENSG00000170011 ENSE00003557154 NA NA NA NA NA NA NA 0.0009025411 FALSE NA ENSE00001678695_001 ENSE00001678695 001 3 40208600 40208769 + 50 81 39 A G 40208610 603 11 CAGGAAACTGCAGCCATCCCACTGCCAGGACCCACCTACCTTCTGCAGGATTGTCGTGGCCAGTTCCTCAGTTAGCTCCTCCTTGTGGTCCCGCAGGTAACTGGCCTCATTTTGCTTGTCCTGAGGAGGGAAGAGAATGGCTGTGTGCTGTGGGTGGATCTGGGGTGACT 40167108 40167278 40167118 40167119 40167119 upstr_intron -40 -0.78 AGTCACCCCAGATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG mutant NA NA NA NA NA 20 125 1 0.997212 0.998606 0.7620135 0.6219014 0.9864917 0.9985038 NA NA 0.01350832 -0.001291822 0.6919574 0.9924977 NA 0.006108249 NA FALSE NA 0 -2.163 . intron_variant MODIFIER MYRIP HGNC 19156 ENST00000302541 6/16 rs542335323 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 AAA A,G 7.413e-05 3:40167119 MYRIP HGNC Symbol protein_coding 451407 ENSG00000170011 ENSE00003557154 intron_variant -0.203875 0.15244 0.01577 0.095506 0.4741114 0.186182 0.0009025411 FALSE 4.48599e-05 ENSE00001678695_006 ENSE00001678695 006 3 40208600 40208769 + 50 81 39 C T 40208625 608 26 CAGGAAACTGCAGCCATCCCACTGCCAGGACCCACCTACCTTCTGCAGGATTGTCGTGGCCAGTTCCTCAGTTAGCTCCTCCTTGTGGTCCCGCAGGTAACTGGCCTCATTTTGCTTGTCCTGAGGAGGGAAGAGAATGGCTGTATGCTGTGGGTGGATTTGGGGTGACT 40167108 40167278 40167133 40167134 40167134 upstr_intron -25 -0.48 AGTCACCCCAAATCCACCCACAGCATACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG mutant NA NA NA NA NA 293 159 1 1 1 0.7620135 0.6219014 0.9864917 0.9985038 NA NA 0.01350832 0.001496207 0.6919574 0.9924977 NA 0.007502263 NA FALSE NA 0 -1.832 . intron_variant MODIFIER MYRIP HGNC 19156 ENST00000302541 6/16 1 NA ACA C,T 8.236e-06 3:40167134 MYRIP HGNC Symbol protein_coding 451407 ENSG00000170011 ENSE00003557154 intron_variant 0.42993 0.22499 0.01749 0.095506 0.6505088 0.157901 0.0009025411 FALSE 1.62795e-05 ENSE00001678695_009 ENSE00001678695 009 3 40208600 40208769 + 50 81 39 G T 40208665 611 66 CAGGAAACTGCAGCCATCCCACTGCCAGGACCCACCTACCTTCTGCAGGATTGTCGTGGCCAGTTCCTCAGTTAGCTCCTCCTTGTGGTCCCGCAGGTAACTGGACTCATTTTGCTTGTCCTGAGGAGGGAAGAGAATGGCTGTGTGCTGTGGGTGGATTTGGGGTGACT 40167108 40167278 40167173 40167174 40167174 exon 16 0.1975309 AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGTCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG mutant NA NA NA NA NA 158 49 1 1 1 0.7620135 0.6219014 0.9864917 0.9985038 NA NA 0.01350832 0.001496207 0.6919574 0.9924977 NA 0.007502263 NA FALSE NA 1 7.497 . missense_variant MODERATE MYRIP HGNC 19156 ENST00000302541 7/17 1 tolerated(0.06) probably_damaging(0.999) NA GGC G,T 8.236e-06 3:40167174 MYRIP HGNC Symbol protein_coding 451407 ENSG00000170011 ENSE00003557154 missense_variant 4.644517 0.95808 0.89508 0.706548 0.9964093 0 0.0009025411 FALSE 4.06633e-06 ENSE00001678695_014 ENSE00001678695 014 3 40208600 40208769 + 50 81 39 C A 40208683 616 84 CAGGAAACTGCAGCCATCCCACTGCCAGGACCCACCTACCTTCTGCAGGATTGTCGTGGCCAGTTCCTCAGTTAGCTCCTCCTTGTTGTCCCGCAGGTAACTGGCCTCATTTTGCTTGTCCTGAGGAGGGAAGAGAATGGCTGTGTGCTGTGGGTGGATTTGGGGTGACT 40167108 40167278 40167191 40167192 40167192 exon 34 0.4197531 AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACAACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG mutant NA NA NA NA NA 357 162 0.9967467 0.9966418 0.9966942 0.7620135 0.6219014 0.9864917 0.9985038 NA NA 0.01025497 -0.001861962 0.6919574 0.9924977 NA 0.004196505 NA FALSE NA 1 3.125 rs141961787 missense_variant MODERATE MYRIP HGNC 19156 ENST00000302541 7/17 rs141961787 1 tolerated(0.13) probably_damaging(0.999) NA A:0.0002 A:0.0005 CCA C,A 0.0001812 3:40167192 MYRIP HGNC Symbol protein_coding 451407 ENSG00000170011 ENSE00003557154 missense_variant 5.235987 0.93562 0.74579 0.706548 0.9876944 0 0.0009025411 FALSE 0.000280654 ENSE00001678695_015 ENSE00001678695 015 3 40208600 40208769 + 50 81 39 G A 40208689 617 90 CAGGAAACTGCAGCCATCCCACTGCCAGGACCCACCTACCTTCTGCAGGATTGTCGTGGCCAGTTCCTCAGTTAGCTCCTTCTTGTGGTCCCGCAGGTAACTGGCCTCATTTTGCTTGTCCTGAGGAGGGAAGAGAATGGCTGTGTGCTGTGGGTGGATTTGGGGTGACT 40167108 40167278 40167197 40167198 40167198 exon 40 0.4938272 AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGAAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG mutant NA NA NA NA NA 756 24 0.998079 0.9845801 0.9913296 0.7620135 0.6219014 0.9864917 0.9985038 NA NA 0.01158734 -0.0139237 0.6919574 0.9924977 NA -0.001168182 NA FALSE NA 1 5.731 . missense_variant MODERATE MYRIP HGNC 19156 ENST00000302541 7/17 1 deleterious(0.03) possibly_damaging(0.771) NA GGA G,A 8.236e-06 3:40167198 MYRIP HGNC Symbol protein_coding 451407 ENSG00000170011 ENSE00003557154 missense_variant 5.194057 0.93976 0.80042 0.706548 0.9989889 0 0.0009025411 FALSE 1.22038e-05 ENSE00001678695_018 ENSE00001678695 018 3 40208600 40208769 + 50 81 39 C T 40208714 620 115 CAGGAAACTGCAGCCATCCCACTGCCAGGACCCACCTACCTTCTGCAGGATTGTCATGGCCAGTTCCTCAGTTAGCTCCTCCTTGTGGTCCCGCAGGTAACTGGCCTCATTTTGCTTGTCCTGAGGAGGGAAGAGAATGGCTGTGTGCTGTGGGTGGATTTGGGGTGACT 40167108 40167278 40167222 40167223 40167223 exon -17 0.8024691 AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCATGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG mutant NA NA NA NA NA 48 229 1 0.9983206 0.9991603 0.7620135 0.6219014 0.9864917 0.9985038 NA NA 0.01350832 -0.0001831733 0.6919574 0.9924977 NA 0.006662573 NA FALSE NA 0.996 3.323 . missense_variant MODERATE MYRIP HGNC 19156 ENST00000302541 7/17 1 deleterious(0) probably_damaging(0.93) NA ACG C,T 8.236e-06 3:40167223 MYRIP HGNC Symbol protein_coding 451407 ENSG00000170011 ENSE00003557154 missense_variant 6.236679 0.93232 0.72506 0.706548 0.9982821 0 0.0009025411 FALSE 8.14438e-06 ENSE00001678695_024 ENSE00001678695 024 3 40208600 40208769 + 50 81 39 T C 40208740 626 141 CAGGAAACTGCAGCCATCCCACTGCCAGGGCCCACCTACCTTCTGCAGGATTGTCGTGGCCAGTTCCTCAGTTAGCTCCTCCTTGTGGTCCCGCAGGTAACTGGCCTCATTTTGCTTGTCCTGAGGAGGGAAGAGAATGGCTGTGTGCTGTGGGTGGATTTGGGGTGACT 40167108 40167278 40167248 40167249 40167249 downstr_intron 10 1.263158 AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGCCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG mutant NA NA NA NA NA 57 255 1 1 1 0.7620135 0.6219014 0.9864917 0.9985038 NA NA 0.01350832 0.001496207 0.6919574 0.9924977 NA 0.007502263 NA FALSE NA 0 0.049 . intron_variant MODIFIER MYRIP HGNC 19156 ENST00000302541 7/16 1 NA GTC T,C 8.236e-06 3:40167249 MYRIP HGNC Symbol protein_coding 451407 ENSG00000170011 ENSE00003557154 intron_variant 0.783055 0.21311 0.00364 0.095506 0.8069739 0.0890223 0.0009025411 FALSE NA ENSE00001678695_BRK ENSE00001678695 BRK 3 40208600 40208769 + 50 81 39 A,G; T,T NA NA NA CAGGAAACTGCAGCCATCCCACTGCCAGGACCCACCTGGCTTCTGCAGGATTGTCGTGGCCAGTTCCTCAGTTAGCTCCTCCTTGTGGTCCCGCAGGTAACTGGCCTCATTTTGCTTGTCAAGAGGAGGGAAGAGAATGGCTGTGTGCTGTGGGTGGATTTGGGGTGACT 40167108 40167278 NA NA NA NA NA NA AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCTTGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGCCAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG AGTCACCCCAAATCCACCCACAGCACACAGCCATTCTCTTCCCTCCTCAGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGGTAGGTGGGTCCTGGCAGTGGGATGGCTGCAGTTTCCTG control 39 166 0 0 0 NA NA NA NA NA 0.7620135 0.6219014 0.9864917 0.9985038 -0.7620135 -0.6219014 NA NA 0.6919574 0.9924977 -0.6919574 NA NA NA TRUE NA NA NA NA NA MYRIP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYRIP NA NA NA ENSG00000170011 ENSE00003557154 NA NA NA NA NA NA NA 0.0009025411 FALSE NA ENSE00001679174_000 ENSE00001679174 000 9 137660193 137660362 + 63 54 53 NA NA NA NA NA CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 NA NA NA NA NA NA CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC natural 67 65 0.998909 0.9978726 0.9983908 1543 3076 0.9419077 0.995817 0.9688624 0.998909 0.9978726 0.9419077 0.995817 0 0 0 0 0.9983908 0.9688624 0 0 0 FALSE FALSE NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001679174 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001679174_001 ENSE00001679174 001 9 137660193 137660362 + 63 54 53 G T 137660210 3660 18 CGACGGAGAGGTCAGGTTAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768363 134768364 134768364 upstr_intron -46 -0.7142857 CGACGGAGAGGTCAGGTTAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 38 360 1 0.9975309 0.9987655 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 0.001713877 0.9983908 0.9688624 NA 0.0299031 NA FALSE NA 0 -1.371 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 24/65 1 NA TGA G 8.236e-06 9:134768364 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 intron_variant -0.266381 0.1259 0.01367 0.093477 0.8293937 0.078079 1 TRUE 2.03135e-05 ENSE00001679174_002 ENSE00001679174 002 9 137660193 137660362 + 63 54 53 A T 137660211 3661 19 CGACGGAGAGGTCAGGTGTGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768364 134768365 134768365 upstr_intron -45 -0.6984127 CGACGGAGAGGTCAGGTGTGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 246 11 0.9743796 0.95 0.9621898 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.03247196 -0.04581705 0.9983908 0.9688624 NA -0.006672544 NA FALSE NA 0 0.167 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 24/65 1 NA GAG A 8.236e-06 9:134768365 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 intron_variant 0.09714 0.18592 0.11797 0.093477 0.8332641 0.078079 1 TRUE 2.03127e-05 ENSE00001679174_003 ENSE00001679174 003 9 137660193 137660362 + 63 54 53 G C 137660212 3662 20 CGACGGAGAGGTCAGGTGACCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768365 134768366 134768366 upstr_intron -44 -0.6825397 CGACGGAGAGGTCAGGTGACCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 298 130 1 0.9997067 0.9998534 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 0.003889672 0.9983908 0.9688624 NA 0.03099099 NA FALSE NA 0 -4.013 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 24/65 rs200884150 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AGC G 1.647e-05 9:134768366 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 intron_variant -0.222908 0.13556 0.02024 0.093477 0.7549723 0.078079 1 TRUE 8.12493e-06 ENSE00001679174_004 ENSE00001679174 004 9 137660193 137660362 + 63 54 53 G A 137660218 3663 26 CGACGGAGAGGTCAGGTGAGCCTAGAGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768371 134768372 134768372 upstr_intron -38 -0.5873016 CGACGGAGAGGTCAGGTGAGCCTAGAGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 453 968 1 0.9960584 0.9980292 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 0.0002413927 0.9983908 0.9688624 NA 0.02916685 NA FALSE NA 0.001 0.562 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 24/65 rs375925722 1 NA A:0.0002 A:0 GGG G 4.942e-05 9:134768372 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 intron_variant 0.173453 0.17105 0.01283 0.162113 0.6209719 0.078079 1 TRUE 3.65562e-05 ENSE00001679174_005 ENSE00001679174 005 9 137660193 137660362 + 63 54 53 G A 137660221 3664 29 CGACGGAGAGGTCAGGTGAGCCTAGGGAAGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768374 134768375 134768375 upstr_intron -35 -0.5396825 CGACGGAGAGGTCAGGTGAGCCTAGGGAAGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 23 333 1 1 1 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 0.004182954 0.9983908 0.9688624 NA 0.03113764 NA FALSE NA 0 -0.317 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 24/65 1 NA AGG G 8.236e-06 9:134768375 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 intron_variant 0.204554 0.17249 0.02332 0.162113 0.6902961 0.078079 1 TRUE 4.06161e-06 ENSE00001679174_007 ENSE00001679174 007 9 137660193 137660362 + 63 54 53 A G 137660225 3666 33 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCGTCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768378 134768379 134768379 upstr_intron -31 -0.4761905 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCGTCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 164 29 1 1 1 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 0.004182954 0.9983908 0.9688624 NA 0.03113764 NA FALSE NA 0 -2.347 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 24/65 1 NA CAT A 8.236e-06 9:134768379 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 intron_variant -0.132412 0.0717 0.00233 0.162113 0.3196179 0.124611 1 TRUE 4.06157e-06 ENSE00001679174_010 ENSE00001679174 010 9 137660193 137660362 + 63 54 53 A G 137660233 3669 41 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCGTGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768386 134768387 134768387 upstr_intron -23 -0.3492063 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCGTGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 99 600 0.7787937 0.8363283 0.807561 0.998909 0.9978726 0.9419077 0.995817 NA NA -0.163114 -0.1594888 0.9983908 0.9688624 NA -0.1613014 NA FALSE NA 0.062 1.145 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134768387 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 intron_variant 0.272246 0.20363 0.09777 0.162113 0.5162917 0.119696 1 TRUE 2.03064e-05 ENSE00001679174_013 ENSE00001679174 013 9 137660193 137660362 + 63 54 53 T C 137660250 3672 58 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGCTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768403 134768404 134768404 upstr_intron -6 -0.07936508 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGCTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 37 192 0.8 0.9122159 0.8561079 0.998909 0.9978726 0.9419077 0.995817 NA NA -0.1419077 -0.08360116 0.9983908 0.9688624 NA -0.1127544 NA FALSE NA 0.01 0.655 . splice_region_variant&intron_variant LOW COL5A1 HGNC 2209 ENST00000371817 24/65 1 NA GTT T 8.236e-06 9:134768404 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 splice_region_variant 1.00438 0.21122 0.06776 0.162113 0.7857825 0.329728 1 TRUE 4.06098e-06 ENSE00001679174_019 ENSE00001679174 019 9 137660193 137660362 + 63 54 53 C T 137660291 3678 99 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCTGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768444 134768445 134768445 exon -19 0.6666667 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCTGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 30 125 0.8 0.8091736 0.8045868 0.998909 0.9978726 0.9419077 0.995817 NA NA -0.1419077 -0.1866434 0.9983908 0.9688624 NA -0.1642756 NA FALSE NA 0.562 -1.025 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 25/66 rs367755808 1 NA T:0 T:0.0001 CCG C,T 5.765e-05 9:134768445 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 synonymous_variant 2.426481 0.92281 0.06173 0.706548 0.6602745 0 1 TRUE 4.06134e-05 ENSE00001679174_020 ENSE00001679174 020 9 137660193 137660362 + 63 54 53 G C 137660298 3679 106 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTCACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768451 134768452 134768452 exon -12 0.7962963 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTCACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 314 57 0.9671692 0.9972152 0.9821922 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.02526153 0.001398142 0.9983908 0.9688624 NA 0.01332984 NA FALSE NA 0.956 6.457 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 25/66 1 unknown(0) NA TGA G,C 1.647e-05 9:134768452 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 missense_variant 4.560287 0.96334 0.96278 0.706548 0.987608 0 1 TRUE 8.12262e-06 ENSE00001679174_021 ENSE00001679174 021 9 137660193 137660362 + 63 54 53 C T 137660300 3680 108 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGATGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768453 134768454 134768454 exon -10 0.8333333 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGATGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 43 992 1 0.999654 0.999827 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 0.003836932 0.9983908 0.9688624 NA 0.03096462 NA FALSE NA 0 -4.581 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 25/66 rs372185208&COSM299835 1 NA T:0.0002 T:0 ACG C,T 1.647e-05 9:134768454 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 synonymous_variant 2.319075 0.85487 0.009 0.706548 0.5857508 0 1 TRUE 2.43688e-05 ENSE00001679174_022 ENSE00001679174 022 9 137660193 137660362 + 63 54 53 C T 137660304 3681 112 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGATCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768457 134768458 134768458 exon -6 0.9074074 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGATCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 75 431 1 0.9888689 0.9944344 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 -0.006948179 0.9983908 0.9688624 NA 0.02557207 NA FALSE NA 1 5.131 rs140486644 missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 25/66 rs140486644 1 unknown(0) NA T:0 T:0.0002 ACC C,T 8.236e-06 9:134768458 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 missense_variant 3.834199 0.97449 0.94258 0.706548 0.9961726 0 1 TRUE 2.84319e-05 ENSE00001679174_023 ENSE00001679174 023 9 137660193 137660362 + 63 54 53 C T 137660305 3682 113 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACTCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768458 134768459 134768459 exon -5 0.9259259 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACTCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 47 2076 1 0.9997245 0.9998623 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 0.003907503 0.9983908 0.9688624 NA 0.03099991 NA FALSE NA 1 5.131 rs150434732 missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 25/66 rs150434732 1 unknown(0) NA T:0 T:0.0001 CCC C,T 8.236e-06 9:134768459 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 missense_variant 4.309598 0.97438 0.94258 0.706548 0.9893541 0 1 TRUE 4.06134e-06 ENSE00001679174_024 ENSE00001679174 024 9 137660193 137660362 + 63 54 53 C A 137660307 3683 115 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCACGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768460 134768461 134768461 exon -3 0.962963 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCACGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 15 559 1 0.99821 0.999105 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.05809232 0.002392991 0.9983908 0.9688624 NA 0.03024265 NA FALSE NA 1 5.138 . missense_variant&splice_region_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 25/66 rs202175001&COSM1701918 1 benign(0.126) NA CCC C,A 8.236e-06 9:134768461 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 missense_variant 4.593187 0.97531 0.95231 0.706548 0.9944867 0 1 TRUE 1.21839e-05 ENSE00001679174_028 ENSE00001679174 028 9 137660193 137660362 + 63 54 53 C T 137660323 3687 131 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGTCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 134768476 134768477 134768477 downstr_intron 14 1.269231 CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGTCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC mutant NA NA NA NA NA 174 82 0.9790985 1 0.9895492 0.998909 0.9978726 0.9419077 0.995817 NA NA 0.0371908 0.004182954 0.9983908 0.9688624 NA 0.02068688 NA FALSE NA 0 -0.396 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 25/65 1 NA GCC C,T 8.236e-06 9:134768477 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001679174 intron_variant 0.761125 0.16108 0.0307 0.099367 0.6196876 0.36271 1 TRUE 4.06293e-06 ENSE00001679174_BRK ENSE00001679174 BRK 9 137660193 137660362 + 63 54 53 A,G; T,T NA NA NA CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTTTGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGCCGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC 134768346 134768516 NA NA NA NA NA NA CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTTTGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGCCGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC CGACGGAGAGGTCAGGTGAGCCTAGGGAGGGCATCTCCTCATGGAGTCTCTGGTTTGTTCTAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCGGTGAGTAGCCCTGCCCACCTCATCCCTCCATACTCTCCCCACCTCCACCCTGC control 23 24 0 0 0 NA NA NA NA NA 0.998909 0.9978726 0.9419077 0.995817 -0.998909 -0.9978726 NA NA 0.9983908 0.9688624 -0.9983908 NA NA NA TRUE NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001679174 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001679208_000 ENSE00001679208 000 1 39761417 39761586 + 42 96 32 NA NA NA NA NA GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 NA NA NA NA NA NA GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG natural 24 13 0.997346 0.9963417 0.9968439 3127 3494 0.9022249 0.8771612 0.8896931 0.997346 0.9963417 0.9022249 0.8771612 0 0 0 0 0.9968439 0.8896931 0 0 0 FALSE FALSE NA NA NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MACF1 NA NA NA ENSG00000127603 ENSE00001679208 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001679208_002 ENSE00001679208 002 1 39761417 39761586 + 42 96 32 C G 39761430 1341 14 GTTAAACTCAAGCGCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 39295757 39295758 39295758 upstr_intron -29 -0.6666667 GTTAAACTCAAGCGCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant NA NA NA NA NA 558 11 0.962785 0.9558063 0.9592956 0.997346 0.9963417 0.9022249 0.8771612 NA NA 0.06056004 0.07864507 0.9968439 0.8896931 NA 0.06960255 NA FALSE NA 0 0.007 . upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 1 NA CCC C,G 8.236e-06 1:39295758 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 intron_variant 0.309331 0.26751 0.16179 0.115753 0.6057712 0.153832 1 TRUE 4.24939e-06 ENSE00001679208_005 ENSE00001679208 005 1 39761417 39761586 + 42 96 32 G A 39761440 1344 24 GTTAAACTCAAGCCCTTCTGTCTATGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 39295767 39295768 39295768 upstr_intron -19 -0.4285714 GTTAAACTCAAGCCCTTCTGTCTATGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant NA NA NA NA NA 157 232 1 0.9894163 0.9947082 0.997346 0.9963417 0.9022249 0.8771612 NA NA 0.09777506 0.1122551 0.9968439 0.8896931 NA 0.1050151 NA FALSE NA 0 -0.434 . upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 1 NA TGT G,A 8.236e-06 1:39295768 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 intron_variant 0.089249 0.19075 0.07705 0.115753 0.3825201 0.153832 1 TRUE 8.27712e-06 ENSE00001679208_006 ENSE00001679208 006 1 39761417 39761586 + 42 96 32 T A 39761449 1345 33 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGATTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 39295776 39295777 39295777 upstr_intron -10 -0.2142857 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGATTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant 118 158 0.7358125 0.85 0.7929062 NA NA NA NA NA 0.997346 0.9963417 0.9022249 0.8771612 -0.2615335 -0.1463417 NA NA 0.9968439 0.8896931 -0.2039376 NA NA NA FALSE 0 -0.672 . upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 1 NA GTT T,A 4.118e-05 1:39295777 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 intron_variant -0.125203 0.22363 0.073 0.115753 0.3593 0.226334 1 TRUE 2.46496e-05 ENSE00001679208_007 ENSE00001679208 007 1 39761417 39761586 + 42 96 32 T C 39761453 1346 37 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTACTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 39295780 39295781 39295781 upstr_intron -6 -0.1190476 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTACTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant 39 68 0.85 0.85 0.85 NA NA NA NA NA 0.997346 0.9963417 0.9022249 0.8771612 -0.147346 -0.1463417 NA NA 0.9968439 0.8896931 -0.1468439 NA NA NA FALSE 0 0.321 . upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 rs375252164 1 NA C:0 C:0.0001 ATT T,C 8.236e-06 1:39295781 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 splice_region_variant -0.355495 0.2602 0.13948 0.115753 0.5078456 0.255702 1 TRUE 4.10014e-06 ENSE00001679208_010 ENSE00001679208 010 1 39761417 39761586 + 42 96 32 C A 39761481 1349 65 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTACCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 39295808 39295809 39295809 exon 23 0.2395833 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTACCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant NA NA NA NA NA 18 126 0.8 1 0.9 0.997346 0.9963417 0.9022249 0.8771612 NA NA -0.1022249 0.1228388 0.9968439 0.8896931 NA 0.01030691 NA FALSE NA 1 4.959 NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:39295809 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 missense_variant 6.325411 0.99074 0.98461 0.719381 0.995251 0 1 TRUE 1.22006e-05 ENSE00001679208_013 ENSE00001679208 013 1 39761417 39761586 + 42 96 32 G C 39761506 1352 90 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTCTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 39295833 39295834 39295834 exon 48 0.5 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTCTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant NA NA NA NA NA 1677 19 0.9982379 0.9915835 0.9949107 0.997346 0.9963417 0.9022249 0.8771612 NA NA 0.096013 0.1144223 0.9968439 0.8896931 NA 0.1052177 NA FALSE NA 0.775 0.042 rs116026083 upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 rs116026083 1 C:0.0100 C:0.0371 C:0.0014 NA C:0 C:0 C:0 C:0.0331 C:0.0002 TGT G,C 0.002973 1:39295834 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 synonymous_variant 1.036063 0.96033 0.82257 0.719381 0.7181054 0 1 TRUE 0.00238478 ENSE00001679208_014 ENSE00001679208 014 1 39761417 39761586 + 42 96 32 T C 39761518 1353 102 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTCGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 39295845 39295846 39295846 exon -37 0.625 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTCGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant NA NA NA NA NA 216 339 1 0.989219 0.9946095 0.997346 0.9963417 0.9022249 0.8771612 NA NA 0.09777506 0.1120578 0.9968439 0.8896931 NA 0.1049164 NA FALSE NA 0.003 -1.261 . upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 1 NA TTG T,C 1.647e-05 1:39295846 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 synonymous_variant 0.512634 0.95087 0.25818 0.706548 0.7070294 0 1 TRUE 8.12585e-06 ENSE00001679208_015 ENSE00001679208 015 1 39761417 39761586 + 42 96 32 T C 39761550 1354 134 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTCTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 39295877 39295878 39295878 exon -5 0.9583333 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTCTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant 89 162 0.8947685 0.85 0.8723843 NA NA NA NA NA 0.997346 0.9963417 0.9022249 0.8771612 -0.1025775 -0.1463417 NA NA 0.9968439 0.8896931 -0.1244596 NA NA NA FALSE 1 6.175 . upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 1 NA TTT T,C 8.237e-06 1:39295878 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 missense_variant 4.820835 0.99228 0.98425 0.706548 0.9988597 0 1 TRUE 4.06901e-06 ENSE00001679208_017 ENSE00001679208 017 1 39761417 39761586 + 42 96 32 G T 39761572 1356 156 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTTTTTGTGTGTGTGTG 39295744 39295914 39295899 39295900 39295900 downstr_intron 18 1.580645 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTTTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant NA NA NA NA NA 82 38 0.8611116 1 0.9305558 0.997346 0.9963417 0.9022249 0.8771612 NA NA -0.0411133 0.1228388 0.9968439 0.8896931 NA 0.04086273 NA FALSE NA 0 -1.322 . upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 1 NA TGT G,T 8.237e-06 1:39295900 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 intron_variant 0.170036 0.06629 0.02728 0.062308 0.5997325 0.0934923 1 TRUE 4.10024e-06 ENSE00001679208_019 ENSE00001679208 019 1 39761417 39761586 + 42 96 32 G T 39761576 1358 160 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTTTGTGTGTGTG 39295744 39295914 39295903 39295904 39295904 downstr_intron 22 1.709677 GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTTTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG mutant NA NA NA NA NA 355 1121 1 0.999966 0.999983 0.997346 0.9963417 0.9022249 0.8771612 NA NA 0.09777506 0.1228048 0.9968439 0.8896931 NA 0.1102899 NA FALSE NA 0 0.022 . upstream_gene_variant MODIFIER MACF1 HGNC 13664 ENST00000372925 1 NA TGT G,T 8.267e-06 1:39295904 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00001679208 intron_variant 1.489237 0.98962 0.25729 0.062308 0.8050632 0.927442 1 TRUE 4.42216e-06 ENSE00001679208_BRK ENSE00001679208 BRK 1 39761417 39761586 + 42 96 32 A,G; T,T NA NA NA GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCTTGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGCCGTGATGGATTTCTGTGTTTGTGTGTGTGTG 39295744 39295914 NA NA NA NA NA NA GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCTTGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGCCGTGATGGATTTCTGTGTTTGTGTGTGTGTG GTTAAACTCAAGCCCTTCTGTCTGTGTGCTTGTTTATTGCAGGCTTACAGTGCTGCTGTCCAGTCCCAGTTGCAGTGGATGAAGCAGCTGTGCCTGTGTGTTGAGCAGCATGTGAAAGAGAATACTGCTTATTTTCAGGTGTGATGGATTTCTGTGTTTGTGTGTGTGTG control NA NA NA NA NA 163 347 0 0.08554671 0.04277336 0.997346 0.9963417 0.9022249 0.8771612 NA NA -0.9022249 -0.7916145 0.9968439 0.8896931 NA -0.8469197 NA TRUE NA NA NA NA NA NA MACF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MACF1 NA NA NA ENSG00000127603 ENSE00001679208 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001680525_000 ENSE00001680525 000 11 2985866 2986035 - 44 72 54 NA NA NA NA NA AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 NA NA NA NA NA NA AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG natural 13 48 0.9847494 0.9256298 0.9551896 2748 3600 0.8314037 0.9104226 0.8709131 0.9847494 0.9256298 0.8314037 0.9104226 0 0 0 0 0.9551896 0.8709131 0 0 0 FALSE FALSE NA NA NA NA NA NAP1L4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAP1L4 NA NA NA ENSG00000205531 ENSE00001680525 NA NA NA NA NA NA NA 0.995731 TRUE NA ENSE00001680525_001 ENSE00001680525 001 11 2985866 2986035 - 44 72 54 G A 2985878 81 158 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATTAGACAGGGTCAG 2964635 2964805 2964647 2964648 2964648 downstr_intron 32 1.744186 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATTAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 166 35 0.9896859 1 0.994843 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.1582823 0.08957744 0.9551896 0.8709131 NA 0.1239298 NA FALSE NA 0 -0.188 . intron_variant&non_coding_transcript_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1/4 1 NA TGA G,A 8.275e-06 11:2964648 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 intron_variant 0.145644 0.19245 0.14483 0.256867 0.6304994 0.0540496 0.995731 TRUE 4.13544e-06 ENSE00001680525_002 ENSE00001680525 002 11 2985866 2986035 - 44 72 54 A G 2985888 82 148 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCCGGTTGGCATCAGACAGGGTCAG 2964635 2964805 2964657 2964658 2964658 downstr_intron 22 1.511628 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCCGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 1153 542 0.9030955 0.9932119 0.9481537 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.07169186 0.08278938 0.9551896 0.8709131 NA 0.07724062 NA FALSE NA 0.002 0.598 . intron_variant&non_coding_transcript_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1/4 rs370545591 1 NA G:0.0003 G:0 CAG A,G 2.483e-05 11:2964658 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 intron_variant 0.300266 0.19921 0.04225 0.256867 0.7770749 0.0546611 0.995731 TRUE 2.46362e-05 ENSE00001680525_003 ENSE00001680525 003 11 2985866 2986035 - 44 72 54 T C 2985912 83 124 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTGTGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 2964681 2964682 2964682 exon -3 0.9722222 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTGTGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 151 555 1 1 1 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.1685963 0.08957744 0.9551896 0.8709131 NA 0.1290869 NA FALSE NA 1 7.431 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW NAP1L4 HGNC 7640 ENST00000528363 1/5 1 NA ATA T,C 3.31e-05 11:2964682 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 missense_variant 2.3838 0.96987 0.9901 0.706548 0.9513733 0 0.995731 TRUE 3.25098e-05 ENSE00001680525_005 ENSE00001680525 005 11 2985866 2986035 - 44 72 54 G C 2985923 85 113 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCGTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 2964692 2964693 2964693 exon -14 0.8194444 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCGTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 419 543 0.9951325 0.9246847 0.9599086 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.1637288 0.01426213 0.9551896 0.8709131 NA 0.08899547 NA FALSE NA 1 6.083 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1/5 1 NA AGG G,C 8.277e-06 11:2964693 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 missense_variant 4.860963 0.96167 0.98244 0.706548 0.9945331 0 0.995731 TRUE NA ENSE00001680525_006 ENSE00001680525 006 11 2985866 2986035 - 44 72 54 T C 2985942 86 94 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTGAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 2964711 2964712 2964712 exon -33 0.5555556 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTGAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 626 641 1 0.9995062 0.9997531 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.1685963 0.08908367 0.9551896 0.8709131 NA 0.12884 NA FALSE NA 0.995 2.898 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1/5 1 NA TTA T,C 8.277e-06 11:2964712 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 missense_variant 4.384336 0.9409 0.92921 0.706548 0.9970145 0 0.995731 TRUE 4.06316e-06 ENSE00001680525_007 ENSE00001680525 007 11 2985866 2986035 - 44 72 54 A G 2985973 87 63 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGACGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 2964742 2964743 2964743 exon 9 0.125 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGACGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 452 609 0.9991777 0.9999375 0.9995576 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.167774 0.08951493 0.9551896 0.8709131 NA 0.1286445 NA FALSE NA 1 3.956 . upstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs373268440 1 NA G:0 G:0.0004 CAT A,G 0.0001076 11:2964743 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 synonymous_variant 1.130629 0.93531 0.92976 0.706548 0.907412 0 0.995731 TRUE 5.69963e-05 ENSE00001680525_008 ENSE00001680525 008 11 2985866 2986035 - 44 72 54 C T 2985981 88 55 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGAAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 2964750 2964751 2964751 exon 1 0.01388889 AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGAAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 64 2332 1 0.9838094 0.9919047 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.1685963 0.07338684 0.9551896 0.8709131 NA 0.1209916 NA FALSE NA 1 7.238 . upstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA TCC C,T 8.279e-06 11:2964751 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 missense_variant 6.297207 0.97527 0.97881 0.706548 0.9972612 0 0.995731 TRUE 4.08427e-06 ENSE00001680525_010 ENSE00001680525 010 11 2985866 2986035 - 44 72 54 T C 2986015 90 21 AGATGTGTTGTTTTTTTAAAGGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 2964784 2964785 2964785 upstr_intron -34 -0.6111111 AGATGTGTTGTTTTTTTAAAGGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 184 663 1 0.988374 0.994187 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.1685963 0.07795144 0.9551896 0.8709131 NA 0.1232739 NA FALSE NA 0.001 1.085 rs74462529 upstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 rs74462529 1 NA CTT T,C 8.294e-06 11:2964785 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 intron_variant 0.134132 0.21126 0.18666 0.099367 0.7546931 0.0651386 0.995731 TRUE NA ENSE00001680525_011 ENSE00001680525 011 11 2985866 2986035 - 44 72 54 A G 2986025 91 11 AGATGTGTTGCTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 2964794 2964795 2964795 upstr_intron -44 -0.7962963 AGATGTGTTGCTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG mutant NA NA NA NA NA 279 412 1 0.9936227 0.9968114 0.9847494 0.9256298 0.8314037 0.9104226 NA NA 0.1685963 0.08320017 0.9551896 0.8709131 NA 0.1258983 NA FALSE NA 0.011 0.138 . upstream_gene_variant MODIFIER NAP1L4 HGNC 7640 ENST00000528363 1 NA AAC A,G 8.303e-06 11:2964795 NAP1L4 HGNC Symbol protein_coding 47946 ENSG00000205531 ENSE00001680525 intron_variant 0.050844 0.21807 0.13163 0.099367 0.663992 0.0651386 0.995731 TRUE 9.27197e-06 ENSE00001680525_BRK ENSE00001680525 BRK 11 2985866 2986035 - 44 72 54 A,G; T,T NA NA NA AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTTTGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGCCGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG 2964635 2964805 NA NA NA NA NA NA AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTTTGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGCCGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG AGATGTGTTGTTTTTTTAAAAGCCTGTTGGAATTTTTTTTCTCTTTTTGATTAGGAATATGATGAACCAATCTTGAAACACCTGCAGGATATTAAAGTGAAATTTTCTGACCCTGGACAGCCTATGGTGAGTACTGACTTGACCTTCTGGTTGGCATCAGACAGGGTCAG control 29 73 0 0 0 246 33 0 0 0 0.9847494 0.9256298 0.8314037 0.9104226 -0.9847494 -0.9256298 -0.8314037 -0.9104226 0.9551896 0.8709131 -0.9551896 -0.8709131 0.08427649 TRUE TRUE NA NA NA NA NA NAP1L4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAP1L4 NA NA NA ENSG00000205531 ENSE00001680525 NA NA NA NA NA NA NA 0.995731 TRUE NA ENSE00001680803_000 ENSE00001680803 000 15 63354355 63354524 + 59 63 48 NA NA NA NA NA CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 NA NA NA NA NA NA AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG natural 131 196 0.9803216 0.9825047 0.9814132 4883 3767 0.9715723 0.8329201 0.9022462 0.9803216 0.9825047 0.9715723 0.8329201 0 0 0 0 0.9814132 0.9022462 0 0 0 FALSE FALSE NA NA NA NA NA TPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TPM1 NA NA NA ENSG00000140416 ENSE00003790929 NA NA NA NA NA NA NA 0.79947 FALSE NA ENSE00001680803_001 ENSE00001680803 001 15 63354355 63354524 + 59 63 48 G T 63354375 1252 21 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGATCAATCTACTCATGGCTTCT 63062155 63062325 63062175 63062176 63062176 upstr_intron -39 -0.6440678 AGAAGCCATGAGTAGATTGATCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant NA NA NA NA NA 257 984 1 0.9921687 0.9960844 0.9803216 0.9825047 0.9715723 0.8329201 NA NA 0.02842769 0.1592486 0.9814132 0.9022462 NA 0.09383815 NA FALSE NA 0.001 0.342 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 1 NA AGC G,T 8.236e-06 15:63062176 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant -0.369663 0.28172 0.20389 0.256867 0.6607568 0.345226 0.79947 FALSE 4.06815e-06 ENSE00001680803_002 ENSE00001680803 002 15 63354355 63354524 + 59 63 48 G T 63354381 1253 27 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGATGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062181 63062182 63062182 upstr_intron -33 -0.5423729 AGAAGCCATGAGTAGATTGAGCTGCATCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant NA NA NA NA NA 1497 706 0.9970333 0.9993971 0.9982152 0.9803216 0.9825047 0.9715723 0.8329201 NA NA 0.02546094 0.1664769 0.9814132 0.9022462 NA 0.09596894 NA FALSE NA 0.322 1.393 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 1 NA AGC G,T 5.765e-05 15:63062182 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant 1.361371 0.9374 0.88134 0.256867 0.8632723 0.884092 0.79947 FALSE 4.879e-05 ENSE00001680803_003 ENSE00001680803 003 15 63354355 63354524 + 59 63 48 C T 63354382 1254 28 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGACTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062182 63062183 63062183 upstr_intron -32 -0.5254237 AGAAGCCATGAGTAGATTGAGCTGCAGTCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant 20 14 0.9981694 1 0.9990847 76 1065 1 1 1 0.9803216 0.9825047 0.9715723 0.8329201 0.01784781 0.01749527 0.02842769 0.1670799 0.9814132 0.9022462 0.01767154 0.09775379 0.08008224 FALSE FALSE 0.994 2.856 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 1 NA GCC C,T 4.942e-05 15:63062183 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant 1.608962 0.91427 0.52139 0.256867 0.8419237 0.505441 0.79947 FALSE 4.06616e-05 ENSE00001680803_005 ENSE00001680803 005 15 63354355 63354524 + 59 63 48 C T 63354400 1256 46 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAAAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062200 63062201 63062201 upstr_intron -14 -0.220339 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTTTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant 20 22 0.959151 0.9916866 0.9754188 616 851 0.8832227 0.9986925 0.9409576 0.9803216 0.9825047 0.9715723 0.8329201 -0.02117061 0.009181856 -0.08834959 0.1657724 0.9814132 0.9022462 -0.005994376 0.03871139 0.04470576 FALSE FALSE 0.95 1.218 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 1 NA TCT C,T 8.236e-06 15:63062201 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant 1.486421 0.84001 0.41118 0.256867 0.8463687 0.471016 0.79947 FALSE 4.06464e-06 ENSE00001680803_006 ENSE00001680803 006 15 63354355 63354524 + 59 63 48 C T 63354404 1257 50 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAAAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062204 63062205 63062205 upstr_intron -10 -0.1525424 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTTTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant NA NA NA NA NA 274 442 0.9920757 1 0.9960378 0.9803216 0.9825047 0.9715723 0.8329201 NA NA 0.02050337 0.1670799 0.9814132 0.9022462 NA 0.09379162 NA FALSE NA 0.991 0.434 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 1 NA TCT C,T 8.236e-06 15:63062205 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant 1.289348 0.86533 0.42097 0.256867 0.812506 0.508005 0.79947 FALSE 4.06451e-06 ENSE00001680803_007 ENSE00001680803 007 15 63354355 63354524 + 59 63 48 C T 63354418 1258 64 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCAAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062218 63062219 63062219 exon 5 0.07936508 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTTGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant 23 33 0.9977818 0.9833115 0.9905466 800 146 0.9885859 0.997619 0.9931025 0.9803216 0.9825047 0.9715723 0.8329201 0.01746021 0.0008067245 0.01701363 0.1646989 0.9814132 0.9022462 0.00913347 0.09085625 0.08172278 FALSE FALSE 1 7.687 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 rs199476316&CM087722 1 NA TCG C,T 8.236e-06 15:63062219 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 missense_variant 6.000756 0.98315 0.97512 0.67177 0.9990092 0 0.79947 FALSE 4.06497e-06 ENSE00001680803_008 ENSE00001680803 008 15 63354355 63354524 + 59 63 48 G A 63354419 1259 65 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGTGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062219 63062220 63062220 exon 6 0.0952381 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCACAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant NA NA NA NA NA 86 628 0.9778969 0.9994351 0.988666 0.9803216 0.9825047 0.9715723 0.8329201 NA NA 0.006324598 0.166515 0.9814132 0.9022462 NA 0.08641981 NA FALSE NA 0.004 -0.694 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 COSM963662&COSM963663&COSM1152851 1 NA CGC G,A 2.471e-05 15:63062220 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 synonymous_variant 0.786995 0.14788 0.0507 0.67177 0.7458699 0 0.79947 FALSE 2.03249e-05 ENSE00001680803_009 ENSE00001680803 009 15 63354355 63354524 + 59 63 48 G A 63354433 1260 79 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATTTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062233 63062234 63062234 exon 20 0.3174603 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAAATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant NA NA NA NA NA 40 137 0.9501863 1 0.9750932 0.9803216 0.9825047 0.9715723 0.8329201 NA NA -0.02138597 0.1670799 0.9814132 0.9022462 NA 0.07284696 NA FALSE NA 1 6.188 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 1 NA AGA G,A 8.236e-06 15:63062234 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 missense_variant 0.582878 0.91947 0.24816 0.67177 0.8238736 0 0.79947 FALSE 8.12744e-06 ENSE00001680803_011 ENSE00001680803 011 15 63354355 63354524 + 59 63 48 A G 63354443 1262 89 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCCTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062243 63062244 63062244 exon 30 0.4761905 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAGGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant NA NA NA NA NA 164 297 1 0.9675151 0.9837576 0.9803216 0.9825047 0.9715723 0.8329201 NA NA 0.02842769 0.134595 0.9814132 0.9022462 NA 0.08151136 NA FALSE NA 1 1.14 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 rs573495443 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAG A,G 1.647e-05 15:63062244 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 synonymous_variant -0.219376 0.90072 0.43168 0.67177 0.5496676 0 0.79947 FALSE 8.12625e-06 ENSE00001680803_012 ENSE00001680803 012 15 63354355 63354524 + 59 63 48 C T 63354461 1263 107 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCAGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062261 63062262 63062262 exon -16 0.7619048 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCTGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant NA NA NA NA NA 1514 652 0.9985354 0.9990015 0.9987685 0.9803216 0.9825047 0.9715723 0.8329201 NA NA 0.02696314 0.1660814 0.9814132 0.9022462 NA 0.09652226 NA FALSE NA 0.997 0.36 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/3 1 NA CCG C,T 8.236e-06 15:63062262 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 synonymous_variant 1.418985 0.8538 0.38746 0.67177 0.7998156 0 0.79947 FALSE 3.65702e-05 ENSE00001680803_013 ENSE00001680803 013 15 63354355 63354524 + 59 63 48 T A 63354483 1264 129 CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCTTATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062283 63062284 63062284 downstr_intron 7 1.148936 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATAAGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant 12 10 0.9923101 0.9814669 0.9868885 565 997 0.9643961 0.9994198 0.9819079 0.9803216 0.9825047 0.9715723 0.8329201 0.01198854 -0.001037808 -0.007176256 0.1664997 0.9814132 0.9022462 0.005475367 0.07966173 0.07418637 FALSE FALSE 0.179 0.126 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TPM1 HGNC 12010 ENST00000559108 1/2 rs201873332 1 NA ATG T,A 8.236e-06 15:63062284 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 splice_region_variant 0.578187 0.20913 0.17831 0.256867 0.8222768 0.180452 0.79947 FALSE 4.06286e-06 ENSE00001680803_014 ENSE00001680803 014 15 63354355 63354524 + 59 63 48 T C 63354492 1265 138 CAAACTCATTTAAAATCCAGTTGGCTTCATCCGCAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062292 63062293 63062293 downstr_intron 16 1.340426 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGCGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant 64 16 0.9121282 0.9315896 0.9218589 318 878 0.9929327 0.9971679 0.9950503 0.9803216 0.9825047 0.9715723 0.8329201 -0.06819336 -0.05091512 0.0213604 0.1642478 0.9814132 0.9022462 -0.05955424 0.09280412 0.1523584 FALSE FALSE 0 0.023 . intron_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/2 rs540541346 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTG T,C 8.236e-06 15:63062293 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant 0.396095 0.20438 0.14891 0.256867 0.5666313 0.113934 0.79947 FALSE 8.12612e-06 ENSE00001680803_015 ENSE00001680803 015 15 63354355 63354524 + 59 63 48 G A 63354500 1266 146 CAAACTCATTTAAAATCCAGTTGGTTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062300 63062301 63062301 downstr_intron 24 1.510638 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAACCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant 51 38 0.9174468 0.9877002 0.9525735 121 313 0.9790907 0.9912796 0.9851851 0.9803216 0.9825047 0.9715723 0.8329201 -0.06287475 0.005195426 0.007518419 0.1583594 0.9814132 0.9022462 -0.02883966 0.08293893 0.1117786 FALSE FALSE 0 -0.245 . intron_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/2 1 NA AGC G,A 1.647e-05 15:63062301 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant 0.309904 0.23562 0.05588 0.256867 0.5232534 0.113934 0.79947 FALSE 8.12698e-06 ENSE00001680803_016 ENSE00001680803 016 15 63354355 63354524 + 59 63 48 G A 63354507 1267 153 CAAACTCATTTAAAATCTAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062307 63062308 63062308 downstr_intron 31 1.659574 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTAGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant 63 74 0.9491183 0.9523815 0.9507499 794 477 0.9839499 0.9961598 0.9900548 0.9803216 0.9825047 0.9715723 0.8329201 -0.03120325 -0.03012327 0.01237756 0.1632397 0.9814132 0.9022462 -0.03066326 0.08780862 0.1184719 FALSE FALSE 0 -0.109 . intron_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/2 1 NA TGG G,A 8.237e-06 15:63062308 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant 0.386991 0.26223 0.06951 0.256867 0.3816753 0.717688 0.79947 FALSE 4.06468e-06 ENSE00001680803_017 ENSE00001680803 017 15 63354355 63354524 + 59 63 48 G T 63354508 1268 154 CAAACTCATTTAAAATACAGTTGGCTTCATCCACAACTCTCATATTACCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTACTGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 63062308 63062309 63062309 downstr_intron 32 1.680851 AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGTATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG mutant 23 17 0.9817549 0.9993289 0.9905419 226 486 0.9942786 0.9999217 0.9971001 0.9803216 0.9825047 0.9715723 0.8329201 0.001433316 0.01682421 0.02270625 0.1670015 0.9814132 0.9022462 0.009128765 0.09485389 0.08572513 FALSE FALSE 0 -2.026 . intron_variant&non_coding_transcript_variant MODIFIER TPM1 HGNC 12010 ENST00000559108 1/2 rs565549316 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GGA G,T 8.237e-06 15:63062309 TPM1 HGNC Symbol protein_coding 29283 ENSG00000140416 ENSE00003790929 non_coding_transcript_exon_variant -0.053869 0.21917 0.12451 0.256867 0.4920608 0.155798 0.79947 FALSE 4.06514e-06 ENSE00001680803_BRK ENSE00001680803 BRK 15 63354355 63354524 + 59 63 48 A,G; T,T NA NA NA CAAACTCATTTAAAATCCAGTTGGCTTCATCCACAACTCTCATATTGGCTCCTTCAGCTTGTCGGAAAGGACCTTGATCTCTTCCTCATATCTGTCTTCCTTCTGCGAGTAAAGTAATTAGAAAGAGCATTCCAGATGTCAGGCTGCAGCTCAATCTACTCATGGCTTCT 63062155 63062325 NA NA NA NA NA NA AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACTTTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGCCAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG AGAAGCCATGAGTAGATTGAGCTGCAGCCTGACATCTGGAATGCTCTTTCTAATTACAGTACTCGCAGAAGGAAGACAGATATGAGGAAGAGATCAAGGTCCTTTCCGACAAGCTGAAGGAGGTAATATGAGAGTTGTGGATGAAGCCAACTGGATTTTAAATGAGTTTG control 629 242 0.01457981 0 0.007289904 NA NA NA NA NA 0.9803216 0.9825047 0.9715723 0.8329201 -0.9657418 -0.9825047 NA NA 0.9814132 0.9022462 -0.9741233 NA NA NA TRUE NA NA NA NA NA TPM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TPM1 NA NA NA ENSG00000140416 ENSE00003790929 NA NA NA NA NA NA NA 0.79947 FALSE NA ENSE00001680843_000 ENSE00001680843 000 17 4781555 4781724 + 57 66 47 NA NA NA NA NA GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT 4878259 4878429 NA NA NA NA NA NA GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT natural 34 42 0.9975004 0.9989265 0.9982135 1044 2386 0.893001 0.936908 0.9149545 0.9975004 0.9989265 0.893001 0.936908 0 0 0 0 0.9982135 0.9149545 0 0 0 FALSE FALSE NA NA NA NA NA RN7SL171P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MINK1 NA NA NA ENSG00000141503 ENSE00003594060 NA NA NA NA NA NA NA 0.999984 TRUE NA ENSE00001680843_001 ENSE00001680843 001 17 4781555 4781724 + 57 66 47 T C 4781635 494 81 GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTCGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT 4878259 4878429 4878339 4878340 4878340 exon 24 0.3636364 GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTCGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT mutant 13 15 1 1 1 292 85 1 0.9842571 0.9921285 0.9975004 0.9989265 0.893001 0.936908 0.002499575 0.001073491 0.106999 0.04734906 0.9982135 0.9149545 0.001786533 0.07717405 0.07538751 FALSE FALSE 1 2.961 . downstream_gene_variant MODIFIER RN7SL171P HGNC 46187 ENST00000579185 rs565123872 1 NA TTG T,C 1.202e-05 17:4878340 MINK1 HGNC Symbol protein_coding 64673 ENSG00000141503 ENSE00003594060 missense_variant 0.408867 0.97894 0.8228 0.732398 0.9612063 0 0.999984 TRUE NA ENSE00001680843_002 ENSE00001680843 002 17 4781555 4781724 + 57 66 47 G A 4781644 495 90 GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTAGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT 4878259 4878429 4878348 4878349 4878349 exon 33 0.5 GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTAGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT mutant NA NA NA NA NA 287 204 1 1 1 0.9975004 0.9989265 0.893001 0.936908 NA NA 0.106999 0.06309197 0.9982135 0.9149545 NA 0.0850455 NA FALSE NA 0.89 0.05 . downstream_gene_variant MODIFIER RN7SL171P HGNC 46187 ENST00000579185 rs546567935 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGG G,A 1.23e-05 17:4878349 MINK1 HGNC Symbol protein_coding 64673 ENSG00000141503 ENSE00003594060 stop_gained 1.395279 0.96444 0.78159 0.732398 0.9859067 0 0.999984 TRUE 6.43307e-05 ENSE00001680843_003 ENSE00001680843 003 17 4781555 4781724 + 57 66 47 C T 4781662 496 108 GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTATGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT 4878259 4878429 4878366 4878367 4878367 exon -16 0.7727273 GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTATGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT mutant NA NA NA NA NA 151 2627 0.9912329 0.9974212 0.9943271 0.9975004 0.9989265 0.893001 0.936908 NA NA 0.0982319 0.06051322 0.9982135 0.9149545 NA 0.07937256 NA FALSE NA 0.001 -2.193 . downstream_gene_variant MODIFIER RN7SL171P HGNC 46187 ENST00000579185 1 NA ACG C,T 0.0001809 17:4878367 MINK1 HGNC Symbol protein_coding 64673 ENSG00000141503 ENSE00003594060 missense_variant 0.726397 0.82063 0.0234 0.732398 0.8426099 0 0.999984 TRUE 0.000236396 ENSE00001680843_004 ENSE00001680843 004 17 4781555 4781724 + 57 66 47 G A 4781685 497 131 GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACAAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT 4878259 4878429 4878389 4878390 4878390 downstr_intron 8 1.173913 GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACAAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT mutant NA NA NA NA NA 706 606 0.9903086 0.9965351 0.9934218 0.9975004 0.9989265 0.893001 0.936908 NA NA 0.0973076 0.05962703 0.9982135 0.9149545 NA 0.07846732 NA FALSE NA 0 -1.436 . downstream_gene_variant MODIFIER RN7SL171P HGNC 46187 ENST00000579185 rs370743044 1 NA CGA G,A 1.508e-05 17:4878390 MINK1 HGNC Symbol protein_coding 64673 ENSG00000141503 ENSE00003594060 splice_region_variant -1.03736 0.0537 0.00479 0.088506 0.779153 0.046875 0.999984 TRUE 5.7852e-05 ENSE00001680843_BRK ENSE00001680843 BRK 17 4781555 4781724 + 57 66 47 A,G; T,T NA NA NA GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTTTGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGCCGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT 4878259 4878429 NA NA NA NA NA NA GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTTTGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGCCGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT GCTCTGTAATCCTTTTCTAAAGTCTTGACACAGTATTCTTCTGTCTCCTGCCCCTAGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACCTACGGACAGGTGTACAAGGTGAGACGAATGGTGTGGAAGTATGACCTCCACATCTGCAGGGCAGT control NA NA NA NA NA 294 33 0.05074285 0 0.02537142 0.9975004 0.9989265 0.893001 0.936908 NA NA -0.8422581 -0.936908 0.9982135 0.9149545 NA -0.8895831 NA TRUE NA NA NA NA NA NA RN7SL171P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MINK1 NA NA NA ENSG00000141503 ENSE00003594060 NA NA NA NA NA NA NA 0.999984 TRUE NA ENSE00001681429_000 ENSE00001681429 000 16 19627385 19627554 + 51 78 41 NA NA NA NA NA AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 NA NA NA NA NA NA TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT natural 98 153 0.5412472 0.5441444 0.5426958 7671 13301 0.8074664 0.8170189 0.8122426 0.5412472 0.5441444 0.8074664 0.8170189 0 0 0 0 0.5426958 0.8122426 0 0 0 FALSE FALSE NA NA NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35L NA NA NA ENSG00000103544 ENSE00003547874 NA NA NA NA NA NA NA NA NA NA ENSE00001681429_001 ENSE00001681429 001 16 19627385 19627554 + 51 78 41 T C 19627415 1131 31 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAGAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616092 19616093 19616093 upstr_intron -21 -0.3921569 TCATACTATAGTCATTATTTGCAACCAGTTCTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 52 22 0 0 0 113 356 0.005365439 0.04958985 0.02747764 0.5412472 0.5441444 0.8074664 0.8170189 -0.5412472 -0.5441444 -0.8021009 -0.7674291 0.5426958 0.8122426 -0.5426958 -0.784765 0.2420692 TRUE TRUE 0.002 0.353 . intron_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 5/6 rs201165968 1 NA TTT T,C 1.647e-05 16:19616093 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 intron_variant 0.004905 0.16882 0.0266 0.163922 0.7671094 0.0455939 NA NA 4.06967e-06 ENSE00001681429_002 ENSE00001681429 002 16 19627385 19627554 + 51 78 41 C T 19627426 1132 42 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAAACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616103 19616104 19616104 upstr_intron -10 -0.1764706 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTTTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 683 93 0.999551 0.9772267 0.9883888 0.5412472 0.5441444 0.8074664 0.8170189 NA NA 0.1920846 0.1602078 0.5426958 0.8122426 NA 0.1761462 NA FALSE NA 0.925 2.316 . intron_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 5/6 1 NA TCT C,T 8.236e-06 16:19616104 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 intron_variant 0.826019 0.15342 0.08951 0.163922 0.4957077 0.0922404 NA NA 4.07471e-06 ENSE00001681429_003 ENSE00001681429 003 16 19627385 19627554 + 51 78 41 G A 19627436 1133 52 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCATCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616113 19616114 19616114 exon 1 0.01282051 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGATGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 20 20 0 0 0 119 22 0.134473 0.1137008 0.1240869 0.5412472 0.5441444 0.8074664 0.8170189 -0.5412472 -0.5441444 -0.6729934 -0.7033181 0.5426958 0.8122426 -0.5426958 -0.6881558 0.14546 TRUE TRUE 1 6.332 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW C16orf62 HGNC 24641 ENST00000535164 6/7 1 NA GGT G,A 8.236e-06 16:19616114 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 5.260414 0.99623 0.99115 0.732398 0.9980328 0 NA NA 4.06306e-06 ENSE00001681429_004 ENSE00001681429 004 16 19627385 19627554 + 51 78 41 G A 19627438 1134 54 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCTACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616115 19616116 19616116 exon 3 0.03846154 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTAGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 376 1379 0.7947751 0.8001834 0.7974792 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.01269127 -0.01683554 0.5426958 0.8122426 NA -0.01476341 NA FALSE NA 1 2.568 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW C16orf62 HGNC 24641 ENST00000535164 6/7 1 NA TGG G,A 8.236e-06 16:19616116 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 splice_region_variant 1.738809 0.98337 0.94045 0.732398 0.8253462 0 NA NA 4.06303e-06 ENSE00001681429_005 ENSE00001681429 005 16 19627385 19627554 + 51 78 41 G C 19627440 1135 56 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTGCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616117 19616118 19616118 exon 5 0.06410256 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGCAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 211 400 0.844787 0.85 0.8473935 2047 767 0.7743842 0.8020718 0.788228 0.5412472 0.5441444 0.8074664 0.8170189 0.3035398 0.3058556 -0.03308216 -0.01494716 0.5426958 0.8122426 0.3046977 -0.02401466 0.3287124 FALSE FALSE 1 9.39 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/7 rs199755110 1 NA GGA G,C 1.647e-05 16:19616118 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 3.732859 0.99287 0.99557 0.732398 0.9976693 0 NA NA 4.0619e-06 ENSE00001681429_006 ENSE00001681429 006 16 19627385 19627554 + 51 78 41 T C 19627443 1136 59 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCGTTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616120 19616121 19616121 exon 8 0.1025641 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAACGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 70 90 0.85 0.85 0.85 269 1394 0.7938161 0.8001814 0.7969987 0.5412472 0.5441444 0.8074664 0.8170189 0.3087528 0.3058556 -0.01365028 -0.01683751 0.5426958 0.8122426 0.3073042 -0.0152439 0.3225481 FALSE FALSE 1 7.629 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:19616121 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 2.382403 0.99248 0.9916 0.732398 0.9714752 0 NA NA 5.68606e-05 ENSE00001681429_007 ENSE00001681429 007 16 19627385 19627554 + 51 78 41 T A 19627443 1137 59 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCTTTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616120 19616121 19616121 exon 8 0.1025641 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAAAGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 755 78 0.7971787 0.8 0.7985893 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.01028768 -0.01701892 0.5426958 0.8122426 NA -0.0136533 NA FALSE NA 1 7.629 NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35L NA NA NA ENSG00000103544 ENSE00003547874 missense_variant 3.780202 0.99271 0.99254 0.732398 0.9771215 0 NA NA 4.06147e-06 ENSE00001681429_008 ENSE00001681429 008 16 19627385 19627554 + 51 78 41 G T 19627445 1138 61 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTACATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616122 19616123 19616123 exon 10 0.1282051 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGTAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 852 2242 0.02208458 0.01562697 0.01885578 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.7853818 -0.8013919 0.5426958 0.8122426 NA -0.7933869 NA TRUE NA 1 9.39 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/7 1 NA GGA G,T 8.236e-06 16:19616123 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 stop_gained 14.26834 0.99474 0.99549 0.732398 0.995345 0 NA NA 4.06154e-06 ENSE00001681429_009 ENSE00001681429 009 16 19627385 19627554 + 51 78 41 G A 19627450 1139 66 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCTACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616127 19616128 19616128 exon 15 0.1923077 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTAGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 32 285 0.01949903 0.005668453 0.01258374 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.7879673 -0.8113505 0.5426958 0.8122426 NA -0.7996589 NA TRUE NA 0.997 0.246 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/7 1 NA TGG G,A 8.236e-06 16:19616128 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 synonymous_variant 1.125889 0.97497 0.88651 0.732398 0.7552706 0 NA NA 4.06131e-06 ENSE00001681429_010 ENSE00001681429 010 16 19627385 19627554 + 51 78 41 G A 19627451 1140 67 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGTCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616128 19616129 19616129 exon 16 0.2051282 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGACCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 599 1665 0.7985934 0.8002386 0.799416 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.008872945 -0.01678033 0.5426958 0.8122426 NA -0.01282664 NA FALSE NA 1 7.426 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/7 rs200642096 1 NA GGC G,A 8.236e-06 16:19616129 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 4.349834 0.99452 0.99082 0.732398 0.83951 0 NA NA 1.62448e-05 ENSE00001681429_011 ENSE00001681429 011 16 19627385 19627554 + 51 78 41 C T 19627470 1141 86 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGATTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616147 19616148 19616148 exon 35 0.4487179 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAATCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 35 48 0.85 0.85 0.85 1097 166 0.8004031 0.8 0.8002016 0.5412472 0.5441444 0.8074664 0.8170189 0.3087528 0.3058556 -0.007063256 -0.01701892 0.5426958 0.8122426 0.3073042 -0.01204109 0.3193453 FALSE FALSE 1 3.751 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/7 rs201667481 1 NA ACC C,T 8.236e-06 16:19616148 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 2.40799 0.98157 0.88493 0.732398 0.9675536 0 NA NA 4.06108e-06 ENSE00001681429_012 ENSE00001681429 012 16 19627385 19627554 + 51 78 41 A C 19627474 1142 90 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTGAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616151 19616152 19616152 exon 39 0.5 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTCAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 71 41 0.85 0.85 0.85 NA NA NA NA NA 0.5412472 0.5441444 0.8074664 0.8170189 0.3087528 0.3058556 NA NA 0.5426958 0.8122426 0.3073042 NA NA NA FALSE 0.021 -1.325 rs140203828 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/7 rs140203828 1 C:0.0026 C:0.0008 C:0.0014 NA C:0 C:0.0109 C:0 C:0.0018 C:0.0062 TAA A,C 0.00551 16:19616152 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 synonymous_variant -0.242637 0.72606 0.08559 0.732398 0.7288031 0 NA NA 0.00525089 ENSE00001681429_013 ENSE00001681429 013 16 19627385 19627554 + 51 78 41 A T 19627482 1143 98 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGATCTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT 19616062 19616232 19616159 19616160 19616160 exon -32 0.6025641 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGATCTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 64 15 0 0 0 1013 661 0.01705149 0.1628856 0.08996857 0.5412472 0.5441444 0.8074664 0.8170189 -0.5412472 -0.5441444 -0.7904149 -0.6541333 0.5426958 0.8122426 -0.5426958 -0.7222741 0.1795783 TRUE TRUE 1 8.88 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/7 1 NA AAC A,T 8.236e-06 16:19616160 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 4.462059 0.99304 0.99521 0.732398 0.993615 0 NA NA 4.06121e-06 ENSE00001681429_014 ENSE00001681429 014 16 19627385 19627554 + 51 78 41 T G 19627493 1144 109 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGACGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616170 19616171 19616171 exon -21 0.7435897 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACGTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 78 27 0.85 0.85 0.85 756 556 0.9371024 0.9818694 0.9594859 0.5412472 0.5441444 0.8074664 0.8170189 0.3087528 0.3058556 0.1296361 0.1648505 0.5426958 0.8122426 0.3073042 0.1472433 0.1600609 FALSE FALSE 1 4.378 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:19616171 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 5.104002 0.98609 0.98181 0.732398 0.9842705 0 NA NA 8.12308e-06 ENSE00001681429_015 ENSE00001681429 015 16 19627385 19627554 + 51 78 41 T C 19627493 1145 109 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAGGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616170 19616171 19616171 exon -21 0.7435897 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACCTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 488 1875 0.8068807 0.7468384 0.7768595 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.0005856999 -0.07018048 0.5426958 0.8122426 NA -0.03538309 NA FALSE NA 1 4.378 NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35L NA NA NA ENSG00000103544 ENSE00003547874 missense_variant 2.59342 0.98461 0.89824 0.732398 0.9726199 0 NA NA NA ENSE00001681429_016 ENSE00001681429 016 16 19627385 19627554 + 51 78 41 T G 19627500 1146 116 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTACGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616177 19616178 19616178 exon -14 0.8333333 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCGTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 20 28 0.8220983 0.9543009 0.8881996 655 223 0.8686504 0.95 0.9093252 0.5412472 0.5441444 0.8074664 0.8170189 0.2808511 0.4101565 0.06118405 0.1329811 0.5426958 0.8122426 0.3455038 0.09708257 0.2484213 FALSE FALSE 0.997 3.026 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/7 1 NA CTT T,G 8.236e-06 16:19616178 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 4.154376 0.98992 0.94707 0.732398 0.9944985 0 NA NA 4.06213e-06 ENSE00001681429_017 ENSE00001681429 017 16 19627385 19627554 + 51 78 41 C T 19627503 1147 119 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACATAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616180 19616181 19616181 exon -11 0.8717949 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTATGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 67 60 0.1238712 0.03401185 0.07894153 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.6835951 -0.7830071 0.5426958 0.8122426 NA -0.7333011 NA TRUE NA 1 6.389 NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:19616181 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 missense_variant 7.087022 0.99109 0.99459 0.732398 0.9990764 0 NA NA 0.000109687 ENSE00001681429_021 ENSE00001681429 021 16 19627385 19627554 + 51 78 41 A G 19627516 1151 132 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCTCTCACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616193 19616194 19616194 downstr_intron 3 1.075 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTGAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 55 65 0 0 0 179 905 0.007861668 0.001977779 0.004919723 0.5412472 0.5441444 0.8074664 0.8170189 -0.5412472 -0.5441444 -0.7996047 -0.8150411 0.5426958 0.8122426 -0.5426958 -0.8073229 0.2646271 TRUE TRUE 1 2.868 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW C16orf62 HGNC 24641 ENST00000535164 6/6 rs201653504 1 G:0.0006 G:0 G:0 NA G:0 G:0.003 G:0 G:0.0002 G:0.0029 TAA A,G 0.001219 16:19616194 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 splice_region_variant 1.846537 0.99001 0.95539 0.106106 0.9643319 0.97398 NA NA 0.00130834 ENSE00001681429_022 ENSE00001681429 022 16 19627385 19627554 + 51 78 41 A G 19627519 1152 135 AACTGTTATATCGATGAGCTATTCTGATAGTGTTCCCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616196 19616197 19616197 downstr_intron 6 1.15 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGGGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 117 145 0.1093942 0.234509 0.1719516 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.6980722 -0.5825099 0.5426958 0.8122426 NA -0.640291 NA TRUE NA 1 3.211 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW C16orf62 HGNC 24641 ENST00000535164 6/6 1 NA GAG A,G 8.236e-06 16:19616197 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 splice_region_variant 0.730806 0.56867 0.8545 0.106106 0.7554291 0.430263 NA NA 4.06369e-06 ENSE00001681429_023 ENSE00001681429 023 16 19627385 19627554 + 51 78 41 G C 19627520 1153 136 AACTGTTATATCGATGAGCTATTCTGATAGTGTTGTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616197 19616198 19616198 downstr_intron 7 1.175 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGACAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 3273 2077 0.8441708 0.8006084 0.8223896 0.5412472 0.5441444 0.8074664 0.8170189 NA NA 0.03670449 -0.01641055 0.5426958 0.8122426 NA 0.01014697 NA FALSE NA 1 1.763 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW C16orf62 HGNC 24641 ENST00000535164 6/6 rs373050551 1 NA C:0.0002 C:0 AGA G,C 1.647e-05 16:19616198 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 splice_region_variant 0.640904 0.59604 0.90597 0.106106 0.6754532 0.273858 NA NA 8.12975e-06 ENSE00001681429_024 ENSE00001681429 024 16 19627385 19627554 + 51 78 41 T C 19627526 1154 142 AACTGTTATATCGATGAGCTATTCTGATGGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616203 19616204 19616204 downstr_intron 13 1.325 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACCATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 1171 816 0.8781598 0.8003099 0.8392348 0.5412472 0.5441444 0.8074664 0.8170189 NA NA 0.0706934 -0.01670906 0.5426958 0.8122426 NA 0.02699217 NA FALSE NA 0 -0.568 . intron_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/6 1 NA CTA T,C 8.236e-06 16:19616204 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 intron_variant 0.54614 0.15462 0.02338 0.106106 0.6072449 0.0968874 NA NA 4.07156e-06 ENSE00001681429_025 ENSE00001681429 025 16 19627385 19627554 + 51 78 41 A C 19627527 1155 143 AACTGTTATATCGATGAGCTATTCTGAGAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616204 19616205 19616205 downstr_intron 14 1.35 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTCTCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 1629 1602 0.7973844 0.8001579 0.7987711 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.01008201 -0.01686106 0.5426958 0.8122426 NA -0.01347153 NA FALSE NA 0 -5.815 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:19616205 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 intron_variant -0.822819 0.0642 0.01341 0.106106 0.3582028 0.0968874 NA NA 2.84891e-05 ENSE00001681429_026 ENSE00001681429 026 16 19627385 19627554 + 51 78 41 A G 19627527 1156 143 AACTGTTATATCGATGAGCTATTCTGACAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616204 19616205 19616205 downstr_intron 14 1.35 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTGTCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 972 1871 0.8 0.8001352 0.8000676 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.007466357 -0.01688375 0.5426958 0.8122426 NA -0.01217506 NA FALSE NA 0 -5.815 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003547874 intron_variant -0.615343 0.06375 0.00742 0.106106 0.3459846 0.0968874 0.008565806 FALSE 2.44192e-05 ENSE00001681429_027 ENSE00001681429 027 16 19627385 19627554 + 51 78 41 A T 19627527 1157 143 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTTTCAGAATAGCTCATCGATATAACAGTT 19616062 19616232 19616204 19616205 19616205 downstr_intron 14 1.35 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTTTCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant 22 33 0.85 0.6586545 0.7543273 2103 6903 0.7939381 0.7998698 0.796904 0.5412472 0.5441444 0.8074664 0.8170189 0.3087528 0.1145101 -0.01352826 -0.01714911 0.5426958 0.8122426 0.2116315 -0.01533868 0.2269702 FALSE FALSE 0 -5.815 NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35L NA NA NA ENSG00000103544 ENSE00003547874 intron_variant -0.679499 0.06055 0.00661 0.106106 0.3654902 0.0968874 NA NA 1.22096e-05 ENSE00001681429_028 ENSE00001681429 028 16 19627385 19627554 + 51 78 41 T G 19627528 1158 144 AACTGTTATATCGATGAGCTATTCTGCTAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616205 19616206 19616206 downstr_intron 15 1.375 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTAGCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 314 615 0.7932372 0.7967528 0.794995 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.01422918 -0.02026608 0.5426958 0.8122426 NA -0.01724763 NA FALSE NA 0 -0.006 . intron_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/6 1 NA ATC T,G 8.236e-06 16:19616206 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 intron_variant 0.13662 0.19776 0.07683 0.106106 0.4267362 0.0968874 NA NA 4.0812e-06 ENSE00001681429_029 ENSE00001681429 029 16 19627385 19627554 + 51 78 41 C G 19627537 1159 153 AACTGTTATATCGATGACCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616214 19616215 19616215 downstr_intron 24 1.6 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGGTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 757 386 0.7306517 0.8010287 0.7658402 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.07681462 -0.01599024 0.5426958 0.8122426 NA -0.04640243 NA FALSE NA 0 0.189 . intron_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/6 1 NA GCT C,G 8.236e-06 16:19616215 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 intron_variant 0.338092 0.28639 0.16295 0.106106 0.511798 0.614229 NA NA 4.07598e-06 ENSE00001681429_030 ENSE00001681429 030 16 19627385 19627554 + 51 78 41 C T 19627542 1160 158 AACTGTTATATCAATGAGCTATTCTGATAGTGTTCTCTTACCTGTTTGAACGTAAGGAGGAAGTCAAAAAAGTTCTTATTTAGGGTTTCTTTGAGATGTGGGGCCACTTCCATTCCCACCTGCAGCCAGACAAATGGAAAAACTGGTTGCAAATAATGACTATAGTATGA 19616062 19616232 19616219 19616220 19616220 downstr_intron 29 1.725 TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATTGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT mutant NA NA NA NA NA 1423 452 0.8003109 0.8228135 0.8115622 0.5412472 0.5441444 0.8074664 0.8170189 NA NA -0.007155419 0.005794561 0.5426958 0.8122426 NA -0.0006804287 NA FALSE NA 0.004 -0.258 . intron_variant&non_coding_transcript_variant MODIFIER C16orf62 HGNC 24641 ENST00000535164 6/6 rs370914557 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 TCG C,T 3.295e-05 16:19616220 VPS35L HGNC Symbol protein_coding 151553 ENSG00000103544 ENSE00003547874 intron_variant -0.203728 0.07796 0.00048 0.106106 0.6888829 0.0968874 NA NA 2.04178e-05 ENSE00001681429_BRK ENSE00001681429 BRK 16 19627385 19627554 + 51 78 41 A,G; T,T NA NA NA TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCTTGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGCCAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT 19616062 19616232 NA NA NA NA NA NA TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCTTGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGCCAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT TCATACTATAGTCATTATTTGCAACCAGTTTTTCCATTTGTCTGGCTGCAGGTGGGAATGGAAGTGGCCCCACATCTCAAAGAAACCCTAAATAAGAACTTTTTTGACTTCCTCCTTACGTTCAAACAGGTAAGAGAACACTATCAGAATAGCTCATCGATATAACAGTT control 546 174 0 0 0 730 253 0.009635333 0 0.004817666 0.5412472 0.5441444 0.8074664 0.8170189 -0.5412472 -0.5441444 -0.797831 -0.8170189 0.5426958 0.8122426 -0.5426958 -0.807425 0.2647292 TRUE TRUE NA NA NA NA NA C16orf62 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS35L NA NA NA ENSG00000103544 ENSE00003547874 NA NA NA NA NA NA NA NA NA NA ENSE00001681699_000 ENSE00001681699 000 16 14932219 14932388 + 45 90 35 NA NA NA NA NA CCAAAGGCAATGTTATGATTTCTGTTTTCCTTCCTTCCTTTCCAGATAAAGCTGTACACCAAGCATGGGACTTTGAAATACCAGACAGACTGTGCCCCTAATAATGGTTACTTTATGATCCCTTTGTATGATAAGGTAAGAGGGGACTGCTTGTCACTTATGATGGGAAA 14838361 14838531 NA NA NA NA NA NA CCAAAGGCAATGTTATGATTTCTGTTTTCCTTCCTTCCTTTCCAGATAAAGCTGTACACCAAGCATGGGACTTTGAAATACCAGACAGACTGTGCCCCTAATAATGGTTACTTTATGATCCCTTTGTATGATAAGGTAAGAGGGGACTGCTTGTCACTTATGATGGGAAA CCAAAGGCAATGTTATGATTTCTGTTTTCCTTCCTTCCTTTCCAGATAAAGCTGTACACCAAGCATGGGACTTTGAAATACCAGACAGACTGTGCCCCTAATAATGGTTACTTTATGATCCCTTTGTATGATAAGGTAAGAGGGGACTGCTTGTCACTTATGATGGGAAA natural NA NA NA NA NA 868 577 0.9296054 0.9950792 0.9623423 NA NA 0.9296054 0.9950792 NA NA 0 0 NA 0.9623423 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001681699 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001682514_000 ENSE00001682514 000 17 1496448 1496617 - 33 93 44 NA NA NA NA NA GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 NA NA NA NA NA NA GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC natural 61 59 0.9983282 0.9889899 0.9936591 3076 2416 0.9952496 0.9950736 0.9951616 0.9983282 0.9889899 0.9952496 0.9950736 0 0 0 0 0.9936591 0.9951616 0 0 0 FALSE FALSE NA NA NA NA NA SLC43A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC43A2 NA NA NA ENSG00000167703 ENSE00003743851 NA NA NA NA NA NA NA 0.0618427 FALSE NA ENSE00001682514_001 ENSE00001682514 001 17 1496448 1496617 - 33 93 44 C T 1496472 167 146 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACATGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593177 1593178 1593178 downstr_intron 9 1.28125 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACATGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 103 36 1 1 1 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004750383 0.004926423 0.9936591 0.9951616 NA 0.004838403 NA FALSE NA 0 -3.353 . intron_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 3/4 rs200711546 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACG C,T 2.471e-05 17:1593178 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 intron_variant 0.445266 0.05472 0.06445 0.101703 0.5622652 0.234185 0.0618427 FALSE 2.04933e-05 ENSE00001682514_003 ENSE00001682514 003 17 1496448 1496617 - 33 93 44 T G 1496474 169 144 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCCCGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593179 1593180 1593180 downstr_intron 7 1.21875 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCCCGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant 12 19 0.9983962 1 0.9991981 822 200 0.9992466 0.997879 0.9985628 0.9983282 0.9889899 0.9952496 0.9950736 6.802458e-05 0.01101011 0.003996979 0.002805442 0.9936591 0.9951616 0.005539069 0.003401211 0.002137859 FALSE FALSE 0.002 -0.267 . splice_region_variant&intron_variant&NMD_transcript_variant LOW SLC43A2 HGNC 23087 ENST00000576721 3/4 rs369982979 1 NA G:0 G:0.0001 GTG T,G 1.647e-05 17:1593180 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 splice_region_variant -0.193534 0.07044 0.08563 0.101703 0.4910676 0.234185 0.0618427 FALSE 8.1817e-06 ENSE00001682514_004 ENSE00001682514 004 17 1496448 1496617 - 33 93 44 C A 1496480 170 138 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGTTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593185 1593186 1593186 downstr_intron 1 1.03125 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGTTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant 217 224 0 0 0 NA NA NA NA NA 0.9983282 0.9889899 0.9952496 0.9950736 -0.9983282 -0.9889899 NA NA 0.9936591 0.9951616 -0.9936591 NA NA NA TRUE 1 7.442 . splice_donor_variant&NMD_transcript_variant HIGH SLC43A2 HGNC 23087 ENST00000576721 3/4 1 NA ACC C,A 8.237e-06 17:1593186 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 splice_donor_variant 6.349436 0.9324 0.98975 0.101703 0.9957013 0.992754 0.0618427 FALSE NA ENSE00001682514_006 ENSE00001682514 006 17 1496448 1496617 - 33 93 44 T G 1496502 172 116 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCCGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593207 1593208 1593208 exon -22 0.7741935 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCCGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 173 226 0.7566571 0.9557096 0.8561834 0.9983282 0.9889899 0.9952496 0.9950736 NA NA -0.2385925 -0.039364 0.9936591 0.9951616 NA -0.1389782 NA FALSE NA 0.003 -1.516 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 3/5 1 NA CTG T,G 8.236e-06 17:1593208 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 synonymous_variant 0.685536 0.31991 0.32522 0.706548 0.7083387 0 0.0618427 FALSE 8.13564e-06 ENSE00001682514_008 ENSE00001682514 008 17 1496448 1496617 - 33 93 44 C T 1496513 174 105 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACACCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593218 1593219 1593219 exon -33 0.655914 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACACCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 264 99 0.999419 1 0.9997095 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004169424 0.004926423 0.9936591 0.9951616 NA 0.004547923 NA FALSE NA 1 7.442 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 3/5 1 NA GCG C,T 8.236e-06 17:1593219 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 missense_variant 7.559019 0.93059 0.98852 0.706548 0.9994054 0 0.0618427 FALSE 4.06673e-06 ENSE00001682514_009 ENSE00001682514 009 17 1496448 1496617 - 33 93 44 G A 1496514 175 104 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTATGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593219 1593220 1593220 exon -34 0.6451613 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTATGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 840 1147 1 0.9950881 0.9975441 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004750383 1.454868e-05 0.9936591 0.9951616 NA 0.002382466 NA FALSE NA 0.444 -0.182 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 3/5 rs200602476 1 NA CGT G,A 3.295e-05 17:1593220 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 synonymous_variant 0.71955 0.66412 0.37097 0.706548 0.8874946 0 0.0618427 FALSE 2.03303e-05 ENSE00001682514_010 ENSE00001682514 010 17 1496448 1496617 - 33 93 44 C T 1496520 176 98 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGATCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593225 1593226 1593226 exon -40 0.5806452 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGATCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 123 1842 0.9820815 0.9991037 0.9905926 0.9983282 0.9889899 0.9952496 0.9950736 NA NA -0.01316815 0.00403017 0.9936591 0.9951616 NA -0.004568988 NA FALSE NA 0.923 -0.091 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 3/5 1 NA ACC C,T 8.236e-06 17:1593226 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 synonymous_variant 1.671788 0.76328 0.70254 0.706548 0.898256 0 0.0618427 FALSE 4.06583e-06 ENSE00001682514_012 ENSE00001682514 012 17 1496448 1496617 - 33 93 44 C T 1496541 178 77 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACATTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593246 1593247 1593247 exon 33 0.3548387 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACATTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 121 231 0.9996594 0.9304715 0.9650654 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004409776 -0.0646021 0.9936591 0.9951616 NA -0.03009616 NA FALSE NA 0 -2.845 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:1593247 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 synonymous_variant 2.144088 0.10787 0.08094 0.706548 0.9111917 0 0.0618427 FALSE 4.06745e-05 ENSE00001682514_013 ENSE00001682514 013 17 1496448 1496617 - 33 93 44 C A 1496541 179 77 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACTTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593246 1593247 1593247 exon 33 0.3548387 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACTTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant 18 26 0.9979545 1 0.9989772 511 220 0.997805 1 0.9989025 0.9983282 0.9889899 0.9952496 0.9950736 -0.000373758 0.01101011 0.002555425 0.004926423 0.9936591 0.9951616 0.005318178 0.003740924 0.001577254 FALSE FALSE 0 -2.845 NA NA NA SLC43A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC43A2 NA NA NA ENSG00000167703 ENSE00003743851 synonymous_variant 2.926547 0.11204 0.1074 0.706548 0.862843 0 0.0618427 FALSE 4.06745e-06 ENSE00001682514_014 ENSE00001682514 014 17 1496448 1496617 - 33 93 44 C T 1496558 180 60 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCAGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593263 1593264 1593264 exon 16 0.172043 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCAGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant 15 54 1 0.9052694 0.9526347 193 696 1 1 1 0.9983282 0.9889899 0.9952496 0.9950736 0.001671775 -0.08372045 0.004750383 0.004926423 0.9936591 0.9951616 -0.04102434 0.004838403 0.04586274 FALSE FALSE 1 7.442 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 3/5 1 NA CCG C,T 1.647e-05 17:1593264 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 missense_variant 7.92269 0.95245 0.9732 0.706548 0.9989313 0 0.0618427 FALSE 1.62962e-05 ENSE00001682514_015 ENSE00001682514 015 17 1496448 1496617 - 33 93 44 G A 1496559 181 59 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTTGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593264 1593265 1593265 exon 15 0.1612903 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTTGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 12 545 1 0.9973016 0.9986508 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004750383 0.00222799 0.9936591 0.9951616 NA 0.003489186 NA FALSE NA 0.912 0.171 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 3/5 rs199849545 1 A:0.0012 A:0 A:0 NA A:0.006 A:0 A:0 A:0 A:0.0001 CGA G,A 0.0001894 17:1593265 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 synonymous_variant 1.709361 0.66464 0.25579 0.706548 0.9044107 0 0.0618427 FALSE 0.00017935 ENSE00001682514_016 ENSE00001682514 016 17 1496448 1496617 - 33 93 44 G A 1496565 182 53 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAATATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593270 1593271 1593271 exon 9 0.09677419 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAATATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 563 240 1 0.9974218 0.9987109 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004750383 0.002348257 0.9936591 0.9951616 NA 0.00354932 NA FALSE NA 1 3.836 rs150348636 3_prime_UTR_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 3/5 rs150348636 1 A:0.0010 A:0.0038 A:0 NA A:0 A:0 A:0 A:0.005 A:0.0002 TGT G,A 0.000626 17:1593271 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 synonymous_variant 1.110883 0.90763 0.89728 0.706548 0.9118999 0 0.0618427 FALSE 0.000481 ENSE00001682514_017 ENSE00001682514 017 17 1496448 1496617 - 33 93 44 G C 1496573 183 45 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGGTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593278 1593279 1593279 exon 1 0.01075269 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGGTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 1033 287 1 0.9312445 0.9656223 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004750383 -0.06382903 0.9936591 0.9951616 NA -0.02953932 NA FALSE NA 1 6.376 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW SLC43A2 HGNC 23087 ENST00000576721 3/5 1 NA AGC G,C 8.237e-06 17:1593279 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 missense_variant 3.390486 0.91969 0.96743 0.706548 0.9806994 0 0.0618427 FALSE 2.4515e-05 ENSE00001682514_018 ENSE00001682514 018 17 1496448 1496617 - 33 93 44 G C 1496585 184 33 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTGTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593290 1593291 1593291 upstr_intron -12 -0.25 GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTGTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 53 1211 1 0.9993373 0.9996687 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004750383 0.004263736 0.9936591 0.9951616 NA 0.00450706 NA FALSE NA 0.718 0.927 . intron_variant&NMD_transcript_variant MODIFIER SLC43A2 HGNC 23087 ENST00000576721 2/4 1 NA AGA G,C 8.238e-06 17:1593291 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 intron_variant 0.154464 0.1523 0.25843 0.101703 0.7190984 0.0907525 0.0618427 FALSE NA ENSE00001682514_021 ENSE00001682514 021 17 1496448 1496617 - 33 93 44 G T 1496607 187 11 GGTGCATCCTACCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593312 1593313 1593313 upstr_intron -34 -0.75 GGTGCATCCTACCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 84 278 1 1 1 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.004750383 0.004926423 0.9936591 0.9951616 NA 0.004838403 NA FALSE NA 0 -0.485 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:1593313 SLC43A2 HGNC Symbol protein_coding 59619 ENSG00000167703 ENSE00003743851 intron_variant 0.059524 0.10523 0.11422 0.101703 0.4209799 0.0907525 0.0618427 FALSE 1.70736e-05 ENSE00001682514_022 ENSE00001682514 022 17 1496448 1496617 - 33 93 44 G A 1496607 188 11 GGTGCATCCTTCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC 1593153 1593323 1593312 1593313 1593313 upstr_intron -34 -0.75 GGTGCATCCTTCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC GGTGCATCCTCCCCACTGAGGTTTCTCTGCTTCTTATCTCTCAGCTGCCCAACATGTTCGGCGACCTTCGGTCCACGTTTATTGCCTTGATGATTGGGTCCTACGCCTCCTCGGCAGTCACCTTTCCAGGAATCAAGGTGAGCACGTGTATTTTGCACTGGTGTCTGTGC mutant NA NA NA NA NA 904 2534 0.9974474 0.9999226 0.998685 0.9983282 0.9889899 0.9952496 0.9950736 NA NA 0.002197823 0.004848979 0.9936591 0.9951616 NA 0.003523401 NA FALSE NA 0 -0.485 NA NA NA SLC43A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC43A2 NA NA NA ENSG00000167703 ENSE00003743851 intron_variant 0.219433 0.10889 0.10419 0.101703 0.5099628 0.0907525 0.0618427 FALSE 1.70736e-05 ENSE00001682778_000 ENSE00001682778 000 16 16387465 16387634 + 44 93 33 NA NA NA NA NA CTTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG 16293607 16293777 NA NA NA NA NA NA CTTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG CTTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG natural NA NA NA NA NA 129 464 0.9775619 0.9957907 0.9866763 NA NA 0.9775619 0.9957907 NA NA 0 0 NA 0.9866763 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003493928 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001682778_BRK ENSE00001682778 BRK 16 16387465 16387634 + 44 93 33 A,G; T,T NA NA NA CTTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCTTAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGCCAGGAAATCCAGAGGCCTCAGGAGATGGCGGG 16293607 16293777 NA NA NA NA NA NA CTTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCTTAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGCCAGGAAATCCAGAGGCCTCAGGAGATGGCGGG CTTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG control NA NA NA NA NA 152 330 0 0 0 NA NA 0.9775619 0.9957907 NA NA -0.9775619 -0.9957907 NA 0.9866763 NA -0.9866763 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003493928 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001682992_000 ENSE00001682992 000 9 34263055 34263224 - 44 72 54 NA NA NA NA NA TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 NA NA NA NA NA NA TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT natural 49 85 0.85 0.85 0.85 2853 2789 0.9213168 0.9499543 0.9356356 0.85 0.85 0.9213168 0.9499543 0 0 0 0 0.85 0.9356356 0 0 0 FALSE FALSE NA NA NA NA NA KIF24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF24 NA NA NA ENSG00000186638 ENSE00001682992 NA NA NA NA NA NA NA 7.564611e-14 FALSE NA ENSE00001682992_002 ENSE00001682992 002 9 34263055 34263224 - 44 72 54 T G 34263083 313 142 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGCGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263084 34263085 34263085 downstr_intron 16 1.372093 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGCGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 719 169 0.9884013 1 0.9942007 0.85 0.85 0.9213168 0.9499543 NA NA 0.06708456 0.05004565 0.85 0.9356356 NA 0.0585651 NA FALSE NA 0.005 0.851 . intron_variant MODIFIER KIF24 HGNC 19916 ENST00000345050 6/9 1 NA CTC T,G 8.272e-06 9:34263085 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 intron_variant 1.618025 0.39217 0.17818 0.106106 0.7431339 0.145268 7.564611e-14 FALSE 4.10394e-06 ENSE00001682992_007 ENSE00001682992 007 9 34263055 34263224 - 44 72 54 T C 34263109 318 116 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAGACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263110 34263111 34263111 exon -11 0.8611111 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAGACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 4120 376 0.8489368 0.9253735 0.8871551 0.85 0.85 0.9213168 0.9499543 NA NA -0.07237999 -0.02458085 0.85 0.9356356 NA -0.04848042 NA FALSE NA 1 5.07 . missense_variant MODERATE KIF24 HGNC 19916 ENST00000345050 6/10 rs538202695 1 deleterious(0) benign(0.027) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTT T,C 2.482e-05 9:34263111 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 missense_variant 5.696229 0.98567 0.97686 0.6512 0.9989933 0 7.564611e-14 FALSE 3.259e-05 ENSE00001682992_008 ENSE00001682992 008 9 34263055 34263224 - 44 72 54 G A 34263124 319 101 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCTCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263125 34263126 34263126 exon -26 0.6527778 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCTCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 31 334 1 0.9966257 0.9983128 0.85 0.85 0.9213168 0.9499543 NA NA 0.07868322 0.04667135 0.85 0.9356356 NA 0.06267728 NA FALSE NA 1 8.277 NA NA NA KIF24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:34263126 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 missense_variant 6.756534 0.99341 0.99153 0.6512 0.9988595 0 7.564611e-14 FALSE 8.1422e-06 ENSE00001682992_010 ENSE00001682992 010 9 34263055 34263224 - 44 72 54 A G 34263126 321 99 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACCCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263127 34263128 34263128 exon -28 0.625 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACCCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 146 295 0.8400816 0.9950101 0.9175459 0.85 0.85 0.9213168 0.9499543 NA NA -0.0812352 0.04505579 0.85 0.9356356 NA -0.01808971 NA FALSE NA 1 0.807 . synonymous_variant LOW KIF24 HGNC 19916 ENST00000345050 6/10 1 NA GAG A,G 8.272e-06 9:34263128 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 synonymous_variant 0.799031 0.97323 0.86109 0.6512 0.6688199 0 7.564611e-14 FALSE NA ENSE00001682992_011 ENSE00001682992 011 9 34263055 34263224 - 44 72 54 T C 34263130 322 95 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCGTACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263131 34263132 34263132 exon -32 0.5694444 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCGTACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 499 676 0.9596832 0.9978885 0.9787859 0.85 0.85 0.9213168 0.9499543 NA NA 0.03836645 0.0479342 0.85 0.9356356 NA 0.04315032 NA FALSE NA 1 6.732 . missense_variant MODERATE KIF24 HGNC 19916 ENST00000345050 6/10 1 deleterious(0) benign(0.005) NA ATG T,C 8.271e-06 9:34263132 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 missense_variant 5.35213 0.99121 0.98695 0.6512 0.9931969 0 7.564611e-14 FALSE 4.07007e-06 ENSE00001682992_013 ENSE00001682992 013 9 34263055 34263224 - 44 72 54 G A 34263132 324 93 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACTCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263133 34263134 34263134 exon -34 0.5416667 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACTCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 1527 87 0.8781255 0.9418465 0.909986 0.85 0.85 0.9213168 0.9499543 NA NA -0.04319123 -0.008107848 0.85 0.9356356 NA -0.02564954 NA FALSE NA 0.999 0.458 . synonymous_variant LOW KIF24 HGNC 19916 ENST00000345050 6/10 1 NA GGG G,A 1.654e-05 9:34263134 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 synonymous_variant 0.955309 0.96769 0.73389 0.6512 0.588508 0 7.564611e-14 FALSE NA ENSE00001682992_014 ENSE00001682992 014 9 34263055 34263224 - 44 72 54 T C 34263138 325 87 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAGCACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263139 34263140 34263140 exon 33 0.4583333 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAGCACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 1325 837 0.9944557 0.995509 0.9949823 0.85 0.85 0.9213168 0.9499543 NA NA 0.07313889 0.04555462 0.85 0.9356356 NA 0.05934675 NA FALSE NA 0.998 0.305 . synonymous_variant LOW KIF24 HGNC 19916 ENST00000345050 6/10 1 NA GTT T,C 8.271e-06 9:34263140 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 synonymous_variant -0.226918 0.96065 0.75272 0.6512 0.6224703 0 7.564611e-14 FALSE 4.07176e-06 ENSE00001682992_015 ENSE00001682992 015 9 34263055 34263224 - 44 72 54 T C 34263145 326 80 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGGTCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263146 34263147 34263147 exon 26 0.3611111 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGGTCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 170 451 0.00225753 0 0.001128765 0.85 0.85 0.9213168 0.9499543 NA NA -0.9190593 -0.9499543 0.85 0.9356356 NA -0.9345068 NA TRUE NA 1 6.732 . missense_variant MODERATE KIF24 HGNC 19916 ENST00000345050 6/10 1 deleterious(0) benign(0.032) NA ATC T,C 2.481e-05 9:34263147 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 missense_variant 4.567478 0.99121 0.98695 0.6512 0.9962898 0 7.564611e-14 FALSE 2.85202e-05 ENSE00001682992_016 ENSE00001682992 016 9 34263055 34263224 - 44 72 54 C T 34263147 327 78 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTAGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263148 34263149 34263149 exon 24 0.3333333 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTAGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 123 181 0 0.1298763 0.06493813 0.85 0.85 0.9213168 0.9499543 NA NA -0.9213168 -0.8200781 0.85 0.9356356 NA -0.8706974 NA TRUE NA 1 3.024 . synonymous_variant LOW KIF24 HGNC 19916 ENST00000345050 6/10 COSM1255827 1 NA CCA C,T 8.272e-06 9:34263149 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 synonymous_variant 1.517082 0.98616 0.97475 0.6512 0.7548719 0 7.564611e-14 FALSE 8.15149e-06 ENSE00001682992_019 ENSE00001682992 019 9 34263055 34263224 - 44 72 54 G A 34263173 330 52 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGTAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263174 34263175 34263175 upstr_intron -3 -0.03703704 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGTAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 454 178 0.01175247 0.003616516 0.007684492 0.85 0.85 0.9213168 0.9499543 NA NA -0.9095643 -0.9463378 0.85 0.9356356 NA -0.9279511 NA TRUE NA 1 3.997 . splice_region_variant&intron_variant LOW KIF24 HGNC 19916 ENST00000345050 5/9 rs376103952 1 NA A:0 A:0.0001 TGC G,A 3.309e-05 9:34263175 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 splice_region_variant 1.391229 0.98149 0.89407 0.106106 0.7552888 0.970849 7.564611e-14 FALSE NA ENSE00001682992_020 ENSE00001682992 020 9 34263055 34263224 - 44 72 54 G A 34263180 331 45 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCTACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263181 34263182 34263182 upstr_intron -10 -0.1666667 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCTACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 184 1056 0.9997761 0.9950582 0.9974172 0.85 0.85 0.9213168 0.9499543 NA NA 0.07845934 0.04510386 0.85 0.9356356 NA 0.0617816 NA FALSE NA 0 -0.297 rs187998432 intron_variant MODIFIER KIF24 HGNC 19916 ENST00000345050 5/9 rs187998432 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 TGG G,A 3.308e-05 9:34263182 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 intron_variant 0.087123 0.21889 0.05061 0.106106 0.5025196 0.163455 7.564611e-14 FALSE 3.29186e-05 ENSE00001682992_021 ENSE00001682992 021 9 34263055 34263224 - 44 72 54 G T 34263181 332 44 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCACACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263182 34263183 34263183 upstr_intron -11 -0.1851852 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCACACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 37 21 0.8043463 0.8 0.8021731 0.85 0.85 0.9213168 0.9499543 NA NA -0.1169705 -0.1499543 0.85 0.9356356 NA -0.1334624 NA FALSE NA 0.008 0.996 . intron_variant MODIFIER KIF24 HGNC 19916 ENST00000345050 5/9 1 NA GGG G,T 2.481e-05 9:34263183 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 intron_variant -0.138767 0.26199 0.27183 0.106106 0.5364174 0.211083 7.564611e-14 FALSE 1.64549e-05 ENSE00001682992_023 ENSE00001682992 023 9 34263055 34263224 - 44 72 54 C A 34263187 334 38 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTTTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263188 34263189 34263189 upstr_intron -17 -0.2962963 TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTTTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 31 37 1 1 1 0.85 0.85 0.9213168 0.9499543 NA NA 0.07868322 0.05004565 0.85 0.9356356 NA 0.06436444 NA FALSE NA 0 -0.652 NA NA NA KIF24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:34263189 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 intron_variant -0.288224 0.15763 0.02259 0.106106 0.4657738 0.109924 7.564611e-14 FALSE 3.31868e-05 ENSE00001682992_025 ENSE00001682992 025 9 34263055 34263224 - 44 72 54 T C 34263202 336 23 TGTTACTCTCCCTTTGCACTTGGTACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT 34263056 34263226 34263203 34263204 34263204 upstr_intron -32 -0.5740741 TGTTACTCTCCCTTTGCACTTGGTACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT TGTTACTCTCCCTTTGCACTTGATACTTGATGTGCTTGTTCTCCCACTTTGCAGCTGAAGGAATGTATCCGAGCACTGGATCAGGAACACACCCATACTCCCTTCAGGCAAAGCAAACTAACTCAGGTAAAGTTAAATGTGAGCCTTGAGTTTGTTCTGATTCATTCCTT mutant NA NA NA NA NA 399 263 0.8 0.8 0.8 0.85 0.85 0.9213168 0.9499543 NA NA -0.1213168 -0.1499543 0.85 0.9356356 NA -0.1356356 NA FALSE NA 0 0.087 . intron_variant MODIFIER KIF24 HGNC 19916 ENST00000345050 5/9 1 NA ATC T,C 8.271e-06 9:34263204 KIF24 HGNC Symbol protein_coding 58990 ENSG00000186638 ENSE00001682992 intron_variant 0.202844 0.16888 0.07012 0.099367 0.3067278 0.109924 7.564611e-14 FALSE 4.24574e-06 ENSE00001683233_000 ENSE00001683233 000 1 114300270 114300439 - 51 57 62 NA NA NA NA NA TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA 113757647 113757817 NA NA NA NA NA NA TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA natural NA NA NA NA NA 2259 2700 0.9779052 0.9079825 0.9429439 NA NA 0.9779052 0.9079825 NA NA 0 0 NA 0.9429439 NA 0 NA FALSE NA NA NA NA NA NA RSBN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHTF1 NA NA NA ENSG00000116793 ENSE00003545554 NA NA NA NA NA NA NA 5.474649e-18 FALSE NA ENSE00001683233_001 ENSE00001683233 001 1 114300270 114300439 - 51 57 62 A G 114300293 3118 147 TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTACGTTTCACTGCATTAATATGAAGA 113757647 113757817 113757670 113757671 113757671 downstr_intron 28 1.56 TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTACGTTTCACTGCATTAATATGAAGA TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA mutant NA NA NA NA NA 839 802 1 0.9989492 0.9994746 NA NA 0.9779052 0.9079825 NA NA 0.02209478 0.09096664 NA 0.9429439 NA 0.05653071 NA FALSE NA 0.942 2.881 . downstream_gene_variant MODIFIER RSBN1 HGNC 25642 ENST00000261441 rs369333829 1 NA G:0.0007 G:0 CAT A,G 8.237e-06 1:113757671 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003545554 intron_variant 0.904057 0.87385 0.83297 0.093295 0.6978094 0.204841 5.474649e-18 FALSE NA ENSE00001683233_020 ENSE00001683233 020 1 114300270 114300439 - 51 57 62 T C 114300391 3137 49 TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTGCTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA 113757647 113757817 113757768 113757769 113757769 upstr_intron -14 -0.2096774 TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTGCTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA mutant NA NA NA NA NA 645 17 1 0.990581 0.9952905 NA NA 0.9779052 0.9079825 NA NA 0.02209478 0.08259851 NA 0.9429439 NA 0.05234664 NA FALSE NA 0.957 0.284 . downstream_gene_variant MODIFIER RSBN1 HGNC 25642 ENST00000261441 1 NA GTA T,C 8.236e-06 1:113757769 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003545554 intron_variant 0.350378 0.16463 0.02504 0.093295 0.6179104 0.154223 5.474649e-18 FALSE 4.06296e-06 ENSE00001683233_026 ENSE00001683233 026 1 114300270 114300439 - 51 57 62 T C 114300425 3143 15 TGACTTAATAATGTGAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA 113757647 113757817 113757802 113757803 113757803 upstr_intron -48 -0.7580645 TGACTTAATAATGTGAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA TGACTTAATAATGTAAGGATTTCCTTTGCATCGTTTAACTAATAGACTACTCCCTCTTTCAGATTGGAGCCTACGATCAGCAGATATGGGAAAAGTCAATCGAACAGACTCAGATTAAGGTAAATTGATTTCTTTGATTCCGCCTATGTTTCACTGCATTAATATGAAGA mutant NA NA NA NA NA 51 124 0.9933603 1 0.9966802 NA NA 0.9779052 0.9079825 NA NA 0.01545509 0.09201747 NA 0.9429439 NA 0.05373628 NA FALSE NA 0 0.271 . downstream_gene_variant MODIFIER RSBN1 HGNC 25642 ENST00000261441 1 NA TTA T,C 8.236e-06 1:113757803 PHTF1 HGNC Symbol protein_coding 62658 ENSG00000116793 ENSE00003545554 intron_variant 0.207749 0.14314 0.03106 0.093295 0.3942202 0.15019 5.474649e-18 FALSE 1.64042e-05 ENSE00001683239_000 ENSE00001683239 000 7 7484005 7484174 - 44 72 54 NA NA NA NA NA GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 NA NA NA NA NA NA CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC natural 512 742 0.8467816 0.85 0.8483908 4229 1502 0.7986768 0.8342755 0.8164761 0.8467816 0.85 0.7986768 0.8342755 0 0 0 0 0.8483908 0.8164761 0 0 0 FALSE FALSE NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003478325 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001683239_002 ENSE00001683239 002 7 7484005 7484174 - 44 72 54 A G 7484024 453 151 GTTCAACAGTTCCTACTCCGGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444392 7444393 7444393 downstr_intron 25 1.581395 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACCGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 120 391 0.8 0.8 0.8 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.00132323 -0.0342755 0.8483908 0.8164761 NA -0.01647613 NA FALSE NA 0 0.181 rs145540964 intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 19/34 rs145540964 1 G:0.0004 G:0 G:0 NA G:0 G:0.002 G:0 CAG A,G 1.654e-05 7:7444393 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 intron_variant 0.260927 0.15916 0.01493 0.057505 0.4295144 0.0503368 1.893035e-20 FALSE 1.2226e-05 ENSE00001683239_003 ENSE00001683239 003 7 7484005 7484174 - 44 72 54 G C 7484025 454 150 GTTCAACAGTTCCTACTCCACTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444393 7444394 7444394 downstr_intron 24 1.55814 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTAGTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 887 26 0.6177894 0.8 0.7088947 0.8467816 0.85 0.7986768 0.8342755 NA NA -0.1808874 -0.0342755 0.8483908 0.8164761 NA -0.1075814 NA FALSE NA 0 -0.353 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 19/34 1 NA AGT G,C 8.271e-06 7:7444394 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 intron_variant -0.081004 0.15178 0.02528 0.057505 0.3815268 0.0503368 1.893035e-20 FALSE 8.15135e-06 ENSE00001683239_005 ENSE00001683239 005 7 7484005 7484174 - 44 72 54 C T 7484031 456 144 GTTCAACAGTTCCTACTCCAGTAATATGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444399 7444400 7444400 downstr_intron 18 1.418605 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCATATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 74 189 0.98138 0.9189107 0.9501454 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.1827032 0.08463522 0.8483908 0.8164761 NA 0.1336692 NA FALSE NA 0 -1.023 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7444400 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 intron_variant -0.108431 0.06951 0.00175 0.057505 0.5113494 0.0510595 1.893035e-20 FALSE 2.44702e-05 ENSE00001683239_006 ENSE00001683239 006 7 7484005 7484174 - 44 72 54 C G 7484031 457 144 GTTCAACAGTTCCTACTCCAGTAATAGGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444399 7444400 7444400 downstr_intron 18 1.418605 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCCTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 134 215 0.8012018 0.8496538 0.8254278 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.002525066 0.0153783 0.8483908 0.8164761 NA 0.008951683 NA FALSE NA 0 -1.023 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003478325 intron_variant -0.241885 0.1121 0.00836 0.057505 0.4046074 0.0510595 1.893035e-20 FALSE 4.07837e-06 ENSE00001683239_008 ENSE00001683239 008 7 7484005 7484174 - 44 72 54 C T 7484049 459 126 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACTTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444417 7444418 7444418 exon -1 1 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAAGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 213 686 0.01301103 0 0.006505516 0.8467816 0.85 0.7986768 0.8342755 NA NA -0.7856657 -0.8342755 0.8483908 0.8164761 NA -0.8099706 NA TRUE NA 1 3.296 . splice_region_variant&synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 19/35 1 NA CCT C,T 8.272e-06 7:7444418 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 splice_region_variant 0.992874 0.97026 0.79701 0.554377 0.6545838 0 1.893035e-20 FALSE 8.14418e-06 ENSE00001683239_009 ENSE00001683239 009 7 7484005 7484174 - 44 72 54 C T 7484052 460 123 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTTTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444420 7444421 7444421 exon -4 0.9583333 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAAAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 430 106 0.9790623 0.95 0.9645311 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.1803855 0.1157245 0.8483908 0.8164761 NA 0.148055 NA FALSE NA 1 0.703 rs182158327 synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 19/35 rs182158327 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCT C,T 1.654e-05 7:7444421 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 synonymous_variant 0.886723 0.98088 0.62236 0.554377 0.4643254 0 1.893035e-20 FALSE 4.0665e-06 ENSE00001683239_011 ENSE00001683239 011 7 7484005 7484174 - 44 72 54 T G 7484058 462 117 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCGGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444426 7444427 7444427 exon -10 0.875 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCCGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 669 1985 0.9842759 0.970059 0.9771674 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.1855991 0.1357835 0.8483908 0.8164761 NA 0.1606913 NA FALSE NA 0.002 -1.201 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 19/35 rs567020923 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CTG T,G 8.272e-06 7:7444427 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 synonymous_variant -0.750717 0.08862 0.01057 0.554377 0.1601708 0 1.893035e-20 FALSE 8.13167e-06 ENSE00001683239_014 ENSE00001683239 014 7 7484005 7484174 - 44 72 54 G T 7484090 465 85 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTTTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444458 7444459 7444459 exon 31 0.4305556 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGAAAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 25 398 0.8 0.8 0.8 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.00132323 -0.0342755 0.8483908 0.8164761 NA -0.01647613 NA FALSE NA 1 1.149 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 19/35 rs534493444 1 tolerated(0.77) benign(0.13) NA TGT G,T 8.274e-06 7:7444459 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 missense_variant 1.921859 0.98182 0.75263 0.554377 0.7572541 0 1.893035e-20 FALSE 4.06749e-06 ENSE00001683239_017 ENSE00001683239 017 7 7484005 7484174 - 44 72 54 A G 7484104 468 71 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTGTTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444472 7444473 7444473 exon 17 0.2361111 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAACAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 31 118 0.9950193 0.8 0.8975096 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.1963425 -0.0342755 0.8483908 0.8164761 NA 0.08103351 NA FALSE NA 0 -0.652 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 19/35 rs202139985 1 tolerated(0.6) benign(0.007) NA G:0 G:0.0004 TAT A,G 5.793e-05 7:7444473 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 missense_variant 0.470709 0.20382 0.00908 0.554377 0.645389 0 1.893035e-20 FALSE 4.88031e-05 ENSE00001683239_018 ENSE00001683239 018 7 7484005 7484174 - 44 72 54 T C 7484105 469 70 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTACTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444473 7444474 7444474 exon 16 0.2222222 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAGTAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 548 839 0.8101288 0.7995076 0.8048182 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.01145204 -0.03476794 0.8483908 0.8164761 NA -0.01165795 NA FALSE NA 0.007 -0.26 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 19/35 rs372365805 1 tolerated(0.31) benign(0.003) C:0.0054 C:0.0008 C:0 NA C:0 C:0 C:0.0266 C:0.0008 C:0.0001 ATT T,C 0.00269 7:7444474 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 missense_variant -0.80825 0.18071 0.01364 0.554377 0.4317009 0 1.893035e-20 FALSE 0.0023751 ENSE00001683239_020 ENSE00001683239 020 7 7484005 7484174 - 44 72 54 G A 7484114 471 61 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGACTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444482 7444483 7444483 exon 7 0.09722222 CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGTCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 615 37 0.004202283 0.01004322 0.007122753 0.8467816 0.85 0.7986768 0.8342755 NA NA -0.7944745 -0.8242323 0.8483908 0.8164761 NA -0.8093534 NA TRUE NA 1 2.681 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7444483 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 missense_variant 5.83336 0.97036 0.74929 0.554377 0.9990211 0 1.893035e-20 FALSE 8.14107e-06 ENSE00001683239_028 ENSE00001683239 028 7 7484005 7484174 - 44 72 54 C G 7484149 479 26 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCGTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 7444517 7444518 7444518 upstr_intron -29 -0.5185185 CCTCAGAATGGAGGTATGAACTTTACGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 159 150 1 1 1 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.2013232 0.1657245 0.8483908 0.8164761 NA 0.1835239 NA FALSE NA 0 0.395 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 18/34 1 NA CCT C,G 1.655e-05 7:7444518 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 intron_variant -0.026048 0.20031 0.08671 0.057505 0.6156915 0.0994345 1.893035e-20 FALSE 2.45174e-05 ENSE00001683239_029 ENSE00001683239 029 7 7484005 7484174 - 44 72 54 A C 7484153 480 22 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAACGTTCATACCTCCATTCTGAGG 7444373 7444543 7444521 7444522 7444522 upstr_intron -33 -0.5925926 CCTCAGAATGGAGGTATGAACGTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 125 155 0.8 0.8 0.8 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.00132323 -0.0342755 0.8483908 0.8164761 NA -0.01647613 NA FALSE NA 0 -0.297 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 18/34 1 NA AAG A,C 8.275e-06 7:7444522 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 intron_variant -0.041134 0.16942 0.01951 0.057505 0.7254751 0.0803737 1.893035e-20 FALSE 8.18927e-06 ENSE00001683239_031 ENSE00001683239 031 7 7484005 7484174 - 44 72 54 T C 7484155 482 20 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGCTCATACCTCCATTCTGAGG 7444373 7444543 7444523 7444524 7444524 upstr_intron -35 -0.6296296 CCTCAGAATGGAGGTATGAGCTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 154 128 0.8 0.9748728 0.8874364 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.00132323 0.1405973 0.8483908 0.8164761 NA 0.07096025 NA FALSE NA 0.007 0.545 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 18/34 1 NA GTT T,C 1.655e-05 7:7444524 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 intron_variant 0.344473 0.25347 0.07312 0.057505 0.7896897 0.0851259 1.893035e-20 FALSE 8.20089e-06 ENSE00001683239_033 ENSE00001683239 033 7 7484005 7484174 - 44 72 54 A G 7484160 484 15 GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTACCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCCTGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATGCCTCCATTCTGAGG 7444373 7444543 7444528 7444529 7444529 upstr_intron -40 -0.7222222 CCTCAGAATGGAGGCATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC mutant NA NA NA NA NA 436 394 0.9749102 0.8 0.8874551 0.8467816 0.85 0.7986768 0.8342755 NA NA 0.1762334 -0.0342755 0.8483908 0.8164761 NA 0.07097897 NA FALSE NA 0 0.056 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 18/34 1 NA TAC A,G 1.655e-05 7:7444529 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003478325 intron_variant -0.13288 0.14611 0.00943 0.057505 0.3977764 0.0448725 1.893035e-20 FALSE 8.23757e-06 ENSE00001683239_BRK ENSE00001683239 BRK 7 7484005 7484174 - 44 72 54 A,G; T,T NA NA NA GTTCAACAGTTCCTACTCCAGTAATACGAAAAACTTGGTGTTGGCTTCTTCCCTGCAGCTCCATCTTCTCCTGGTACTCCTGGTTGTCCTGGGAGCCCTATTGAGCCTGGCTCTCCAAGGTGAATGAACAAATATTTTATTTCCCTAAAGTTCATACCTCCATTCTGAGG 7444373 7444543 NA NA NA NA NA NA CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCTTGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGCCAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC CCTCAGAATGGAGGTATGAACTTTAGGGAAATAAAATATTTGTTCATTCACCAGGGAGAGCCAGGCTCAATAGGGCTCCCAGGACAACCAGGAGTACCAGGAGAAGATGGAGCTGCAGGGAAGAAGGTAACACCAAGTTTTTCGTATTACTGGAGTAGGAACTGTTGAAC control 27 134 0.1380133 0 0.06900667 318 134 0 0 0 0.8467816 0.85 0.7986768 0.8342755 -0.7087683 -0.85 -0.7986768 -0.8342755 0.8483908 0.8164761 -0.7793842 -0.8164761 0.03709198 TRUE TRUE NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003478325 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001683530_000 ENSE00001683530 000 X 47035852 47036021 + 47 87 36 NA NA NA NA NA TCTGTCCATGACAACTGCTGCCCACCGCCCCTGTACCTTATTGCACAGCCAGTCCTCATTGATCTTGGGCTTGGGGTCACTGTAGTGCATCGACACCTTCTGGCCCAGGATGTTGAGGGAGTGCTGCGGGAAAAAGCAGAGCACAGTGAGGTCCAGGCAGCAGTGCCCCA 47176452 47176622 NA NA NA NA NA NA TGGGGCACTGCTGCCTGGACCTCACTGTGCTCTGCTTTTTCCCGCAGCACTCCCTCAACATCCTGGGCCAGAAGGTGTCGATGCACTACAGTGACCCCAAGCCCAAGATCAATGAGGACTGGCTGTGCAATAAGGTACAGGGGCGGTGGGCAGCAGTTGTCATGGACAGA TGGGGCACTGCTGCCTGGACCTCACTGTGCTCTGCTTTTTCCCGCAGCACTCCCTCAACATCCTGGGCCAGAAGGTGTCGATGCACTACAGTGACCCCAAGCCCAAGATCAATGAGGACTGGCTGTGCAATAAGGTACAGGGGCGGTGGGCAGCAGTTGTCATGGACAGA natural NA NA NA NA NA 159 13 0.9963191 0.9616518 0.9789854 NA NA 0.9963191 0.9616518 NA NA 0 0 NA 0.9789854 NA 0 NA FALSE NA NA NA NA NA NA RBM10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBM10 NA NA NA ENSG00000182872 ENSE00003601157 NA NA NA NA NA NA NA 0.9999122 TRUE NA ENSE00001683530_009 ENSE00001683530 009 X 47035852 47036021 + 47 87 36 C A 47035961 381 110 TCTGTCCATGACAACTGCTGCCCACCGCCCCTGTACCTTATTGCACAGCCAGTCCTCATTTATCTTGGGCTTGGGGTCACTGTAGTGCATCGACACCTTCTGGCCCAGGATGTTGAGGGAGTGCTGCGGGAAAAAGCAGAGCACAGTGAGGTCCAGGCAGCAGTGCCCCA 47176452 47176622 47176561 47176562 47176562 exon -25 0.7241379 TGGGGCACTGCTGCCTGGACCTCACTGTGCTCTGCTTTTTCCCGCAGCACTCCCTCAACATCCTGGGCCAGAAGGTGTCGATGCACTACAGTGACCCCAAGCCCAAGATAAATGAGGACTGGCTGTGCAATAAGGTACAGGGGCGGTGGGCAGCAGTTGTCATGGACAGA TGGGGCACTGCTGCCTGGACCTCACTGTGCTCTGCTTTTTCCCGCAGCACTCCCTCAACATCCTGGGCCAGAAGGTGTCGATGCACTACAGTGACCCCAAGCCCAAGATCAATGAGGACTGGCTGTGCAATAAGGTACAGGGGCGGTGGGCAGCAGTTGTCATGGACAGA mutant NA NA NA NA NA 73 24 0.9959857 0.986217 0.9911014 NA NA 0.9963191 0.9616518 NA NA -0.0003334083 0.02456524 NA 0.9789854 NA 0.01211592 NA FALSE NA 1 0.305 . synonymous_variant LOW RBM10 HGNC 9896 ENST00000329236 6/23 1 NA TCA C,A 8.237e-06 X:47176562 RBM10 HGNC Symbol protein_coding 41944 ENSG00000182872 ENSE00003601157 synonymous_variant 1.319864 0.95444 0.79546 0 0.787364 0 0.9999122 TRUE 5.60409e-06 ENSE00001683530_013 ENSE00001683530 013 X 47035852 47036021 + 47 87 36 G A 47035997 385 146 TCTGTCCATGACAACTGCTGCCCATCGCCCCTGTACCTTATTGCACAGCCAGTCCTCATTGATCTTGGGCTTGGGGTCACTGTAGTGCATCGACACCTTCTGGCCCAGGATGTTGAGGGAGTGCTGCGGGAAAAAGCAGAGCACAGTGAGGTCCAGGCAGCAGTGCCCCA 47176452 47176622 47176597 47176598 47176598 downstr_intron 12 1.342857 TGGGGCACTGCTGCCTGGACCTCACTGTGCTCTGCTTTTTCCCGCAGCACTCCCTCAACATCCTGGGCCAGAAGGTGTCGATGCACTACAGTGACCCCAAGCCCAAGATCAATGAGGACTGGCTGTGCAATAAGGTACAGGGGCGATGGGCAGCAGTTGTCATGGACAGA TGGGGCACTGCTGCCTGGACCTCACTGTGCTCTGCTTTTTCCCGCAGCACTCCCTCAACATCCTGGGCCAGAAGGTGTCGATGCACTACAGTGACCCCAAGCCCAAGATCAATGAGGACTGGCTGTGCAATAAGGTACAGGGGCGGTGGGCAGCAGTTGTCATGGACAGA mutant NA NA NA NA NA 67 199 1 1 1 NA NA 0.9963191 0.9616518 NA NA 0.003680902 0.03834823 NA 0.9789854 NA 0.02101456 NA FALSE NA 0 -0.121 . intron_variant MODIFIER RBM10 HGNC 9896 ENST00000329236 6/22 1 NA GGT G,A 1.647e-05 X:47176598 RBM10 HGNC Symbol protein_coding 41944 ENSG00000182872 ENSE00003601157 intron_variant 0.725791 0.13938 0.03271 0 0.7911533 0.202995 0.9999122 TRUE NA ENSE00001683641_000 ENSE00001683641 000 1 21563209 21563378 - 30 99 41 NA NA NA NA NA CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 NA NA NA NA NA NA CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG natural 282 217 0.9934912 0.9945563 0.9940237 2081 2372 0.9895717 0.9315433 0.9605575 0.9934912 0.9945563 0.9895717 0.9315433 0 0 0 0 0.9940237 0.9605575 0 0 0 FALSE FALSE NA NA NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003487916 NA NA NA NA NA NA NA 0.9997686 TRUE NA ENSE00001683641_002 ENSE00001683641 002 1 21563209 21563378 - 30 99 41 T A 21563226 620 153 CACCCCCTCCAAGTGCCAGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236732 21236733 21236733 downstr_intron 13 1.448276 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCTGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 21 13 0.9941577 1 0.9970789 27 188 1 1 1 0.9934912 0.9945563 0.9895717 0.9315433 0.0006665333 0.005443711 0.01042832 0.06845673 0.9940237 0.9605575 0.003055122 0.03944253 0.0363874 FALSE FALSE 0 -0.423 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 11/17 1 NA CTG T,A 2.471e-05 1:21236733 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 intron_variant 0.099187 0.09382 0.01559 0.295142 0.5943462 0.0476449 0.9997686 TRUE 1.21841e-05 ENSE00001683641_003 ENSE00001683641 003 1 21563209 21563378 - 30 99 41 T G 21563246 621 133 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCGTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236752 21236753 21236753 exon -8 0.9292929 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCACGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant NA NA NA NA NA 66 99 1 0.8860195 0.9430098 0.9934912 0.9945563 0.9895717 0.9315433 NA NA 0.01042832 -0.04552375 0.9940237 0.9605575 NA -0.01754772 NA FALSE NA 1 3.517 NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:21236753 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 missense_variant 4.536103 0.97702 0.95364 0.706548 0.9975372 0 0.9997686 TRUE 1.21828e-05 ENSE00001683641_005 ENSE00001683641 005 1 21563209 21563378 - 30 99 41 G A 21563248 623 131 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTAGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236754 21236755 21236755 exon -10 0.9090909 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCTAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 32 17 1 0.9819724 0.9909862 28 201 1 0.9992124 0.9996062 0.9934912 0.9945563 0.9895717 0.9315433 0.006508821 -0.01258384 0.01042832 0.06766909 0.9940237 0.9605575 -0.003037509 0.0390487 0.04208621 FALSE FALSE 1 1.936 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 11/18 1 NA TGG G,A 1.647e-05 1:21236755 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 synonymous_variant 1.280958 0.97888 0.90187 0.706548 0.5844662 0 0.9997686 TRUE 1.62439e-05 ENSE00001683641_007 ENSE00001683641 007 1 21563209 21563378 - 30 99 41 T G 21563257 625 122 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTGCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236763 21236764 21236764 exon -19 0.8181818 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGCAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 16 10 1 1 1 NA NA NA NA NA 0.9934912 0.9945563 0.9895717 0.9315433 0.006508821 0.005443711 NA NA 0.9940237 0.9605575 0.005976266 NA NA NA FALSE 0.968 0.082 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 11/18 1 NA TTC T,G 8.236e-06 1:21236764 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 synonymous_variant 0.299099 0.96637 0.75882 0.706548 0.5302502 0 0.9997686 TRUE 4.06081e-06 ENSE00001683641_008 ENSE00001683641 008 1 21563209 21563378 - 30 99 41 C T 21563258 626 121 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTTGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236764 21236765 21236765 exon -20 0.8080808 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCAAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 88 38 0.9103522 0.969501 0.9399266 271 801 0.9966105 0.9998097 0.9982101 0.9934912 0.9945563 0.9895717 0.9315433 -0.08313897 -0.02505533 0.007038783 0.06826646 0.9940237 0.9605575 -0.05409715 0.03765262 0.09174977 FALSE FALSE 1 4.24 rs140735120 missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 11/18 rs140735120&COSM903800 1 deleterious(0.01) possibly_damaging(0.634) NA T:0 T:0.0001 TCG C,T 4.118e-05 1:21236765 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 missense_variant 6.837564 0.9771 0.88692 0.706548 0.9994297 0 0.9997686 TRUE 4.46704e-05 ENSE00001683641_009 ENSE00001683641 009 1 21563209 21563378 - 30 99 41 T A 21563263 627 116 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTATCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236769 21236770 21236770 exon -25 0.7575758 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGATACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 43 23 1 1 1 209 12 1 1 1 0.9934912 0.9945563 0.9895717 0.9315433 0.006508821 0.005443711 0.01042832 0.06845673 0.9940237 0.9605575 0.005976266 0.03944253 0.03346626 FALSE FALSE 0.111 -0.608 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 11/18 1 tolerated(0.32) benign(0.001) NA TTT T,A 8.236e-06 1:21236770 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 missense_variant 0.738138 0.77375 0.12097 0.706548 0.963445 0 0.9997686 TRUE 4.06085e-06 ENSE00001683641_010 ENSE00001683641 010 1 21563209 21563378 - 30 99 41 A G 21563282 628 97 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCGGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236788 21236789 21236789 exon -44 0.5656566 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCCGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 25 13 1 1 1 58 465 1 1 1 0.9934912 0.9945563 0.9895717 0.9315433 0.006508821 0.005443711 0.01042832 0.06845673 0.9940237 0.9605575 0.005976266 0.03944253 0.03346626 FALSE FALSE 1 8.531 rs144737209 missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 11/18 rs144737209 1 deleterious(0) probably_damaging(0.999) NA G:0.0005 G:0 CAG A,G 1.647e-05 1:21236789 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 missense_variant 6.630715 0.98811 0.98873 0.706548 0.9992286 0 0.9997686 TRUE 1.21826e-05 ENSE00001683641_011 ENSE00001683641 011 1 21563209 21563378 - 30 99 41 G A 21563284 629 95 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGAGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236790 21236791 21236791 exon -46 0.5454545 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACTCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 44 21 1 1 1 52 60 0.990956 0.9973549 0.9941555 0.9934912 0.9945563 0.9895717 0.9315433 0.006508821 0.005443711 0.001384325 0.06581165 0.9940237 0.9605575 0.005976266 0.03359799 0.02762172 FALSE FALSE 0.087 -0.641 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 11/18 COSM1721858&COSM1721859 1 NA GGG G,A 8.236e-06 1:21236791 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 synonymous_variant 1.471077 0.77573 0.12985 0.706548 0.6281108 0 0.9997686 TRUE 4.06114e-06 ENSE00001683641_012 ENSE00001683641 012 1 21563209 21563378 - 30 99 41 G A 21563292 630 87 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAAGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236798 21236799 21236799 exon 46 0.4646465 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCTTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant NA NA NA NA NA 324 394 0.9937098 0.9995984 0.9966541 0.9934912 0.9945563 0.9895717 0.9315433 NA NA 0.004138169 0.06805512 0.9940237 0.9605575 NA 0.03609664 NA FALSE NA 1 1.147 rs142640033 synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 11/18 rs142640033 1 NA A:0 A:0.0001 AGG G,A 8.236e-06 1:21236799 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 synonymous_variant 1.384801 0.97877 0.88889 0.706548 0.7813036 0 0.9997686 TRUE 4.06118e-06 ENSE00001683641_013 ENSE00001683641 013 1 21563209 21563378 - 30 99 41 T A 21563305 631 74 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAAAGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236811 21236812 21236812 exon 33 0.3333333 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCTTTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 20 22 1 1 1 23 217 1 0.9913076 0.9956538 0.9934912 0.9945563 0.9895717 0.9315433 0.006508821 0.005443711 0.01042832 0.05976433 0.9940237 0.9605575 0.005976266 0.03509633 0.02912006 FALSE FALSE 0 -4.969 . synonymous_variant LOW ECE1 HGNC 3146 ENST00000264205 11/18 rs369424073 1 NA A:0 A:0.0001 ATG T,A 1.647e-05 1:21236812 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 synonymous_variant 1.859214 0.09001 0.02981 0.706548 0.5998734 0 0.9997686 TRUE 8.12308e-06 ENSE00001683641_014 ENSE00001683641 014 1 21563209 21563378 - 30 99 41 C A 21563307 632 72 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGACTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236813 21236814 21236814 exon 31 0.3131313 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGTCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 23 54 1 0.9999047 0.9999523 384 613 1 0.9963707 0.9981854 0.9934912 0.9945563 0.9895717 0.9315433 0.006508821 0.005348384 0.01042832 0.06482744 0.9940237 0.9605575 0.005928602 0.03762788 0.03169928 FALSE FALSE 1 7.133 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 11/18 1 deleterious(0.04) probably_damaging(0.999) NA GCC C,A 8.236e-06 1:21236814 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 missense_variant 5.925781 0.99086 0.98599 0.706548 0.997454 0 0.9997686 TRUE 4.06174e-06 ENSE00001683641_015 ENSE00001683641 015 1 21563209 21563378 - 30 99 41 A C 21563321 633 58 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCCGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236827 21236828 21236828 exon 17 0.1717172 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCGGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant NA NA NA NA NA 915 167 0.9895878 1 0.9947939 0.9934912 0.9945563 0.9895717 0.9315433 NA NA 1.607786e-05 0.06845673 0.9940237 0.9605575 NA 0.0342364 NA FALSE NA 0 0.664 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 11/18 COSM310795 1 tolerated(0.39) benign(0.008) NA CAG A,C 1.647e-05 1:21236828 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 missense_variant 1.84369 0.96564 0.25609 0.706548 0.9340571 0 0.9997686 TRUE 1.62483e-05 ENSE00001683641_016 ENSE00001683641 016 1 21563209 21563378 - 30 99 41 C T 21563331 634 48 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTTGGTGGCCTGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236837 21236838 21236838 exon 7 0.07070707 CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCAAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 19 35 0.9968372 0.9991621 0.9979997 313 40 1 1 1 0.9934912 0.9945563 0.9895717 0.9315433 0.003346062 0.004605829 0.01042832 0.06845673 0.9940237 0.9605575 0.003975945 0.03944253 0.03546658 FALSE FALSE 0.997 3.471 . missense_variant MODERATE ECE1 HGNC 3146 ENST00000264205 11/18 COSM169040 1 tolerated(0.28) benign(0.029) NA TCG C,T 4.118e-05 1:21236838 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 missense_variant 3.672304 0.98384 0.94391 0.706548 0.9970653 0 0.9997686 TRUE 4.06418e-05 ENSE00001683641_017 ENSE00001683641 017 1 21563209 21563378 - 30 99 41 C G 21563354 635 25 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATGACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 21236860 21236861 21236861 upstr_intron -17 -0.3902439 CCAGTGCGCAGACCTTACTGCTGTCATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant NA NA NA NA NA 103 91 1 1 1 0.9934912 0.9945563 0.9895717 0.9315433 NA NA 0.01042832 0.06845673 0.9940237 0.9605575 NA 0.03944253 NA FALSE NA 0 -1.033 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 10/17 1 NA TCA C,G 8.236e-06 1:21236861 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 intron_variant -0.271879 0.137 0.04961 0.099367 0.4880186 0.0746573 0.9997686 TRUE 4.06825e-06 ENSE00001683641_018 ENSE00001683641 018 1 21563209 21563378 - 30 99 41 A G 21563360 636 19 CACCCCCTCCAAGTGCCTGGCCAGCCTCACCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCCTGAGGAGATACACATCACAGCGGTAAGGTCTGCGCACTGG 21236715 21236885 21236866 21236867 21236867 upstr_intron -23 -0.5365854 CCAGTGCGCAGACCTTACCGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG mutant 23 18 0.963379 0.9943224 0.9788507 136 956 1 0.9997209 0.9998604 0.9934912 0.9945563 0.9895717 0.9315433 -0.03011219 -0.0002338852 0.01042832 0.06817758 0.9940237 0.9605575 -0.01517304 0.03930295 0.05447599 FALSE FALSE 0.001 -0.262 . intron_variant MODIFIER ECE1 HGNC 3146 ENST00000264205 10/17 1 NA CAG A,G 8.236e-06 1:21236867 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003487916 intron_variant 0.356167 0.24162 0.08657 0.099367 0.6953348 0.0756593 0.9997686 TRUE 8.14014e-06 ENSE00001683641_BRK ENSE00001683641 BRK 1 21563209 21563378 - 30 99 41 A,G; T,T NA NA NA CACCCCCTCCAAGTGCCTGGCCAGCCTCGGCTTTTCCTTGGCTGATTTTCGGGTTTCCTCATCCATCCACTTCAGGGTGCTCAGGCTTTCCTCAAATGCCTTCTTAATCTCCAGGATGATCTCGGTGGCAAGAGGAGATACACATCACAGCAGTAAGGTCTGCGCACTGG 21236715 21236885 NA NA NA NA NA NA CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCTTGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGCCGAGGCTGGCCAGGCACTTGGAGGGGGTG CCAGTGCGCAGACCTTACTGCTGTGATGTGTATCTCCTCAGGCCACCGAGATCATCCTGGAGATTAAGAAGGCATTTGAGGAAAGCCTGAGCACCCTGAAGTGGATGGATGAGGAAACCCGAAAATCAGCCAAGGAAAAGGTGAGGCTGGCCAGGCACTTGGAGGGGGTG control 197 180 0 0 0 NA NA NA NA NA 0.9934912 0.9945563 0.9895717 0.9315433 -0.9934912 -0.9945563 NA NA 0.9940237 0.9605575 -0.9940237 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003487916 NA NA NA NA NA NA NA 0.9997686 TRUE NA ENSE00001683721_000 ENSE00001683721 000 X 153553637 153553806 + 48 84 38 NA NA NA NA NA GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 NA NA NA NA NA NA GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC natural 108 68 0.9992667 0.9960964 0.9976816 2774 8565 0.9994391 0.8847961 0.9421176 0.9992667 0.9960964 0.9994391 0.8847961 0 0 0 0 0.9976816 0.9421176 0 0 0 FALSE FALSE NA NA NA NA NA TKTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKTL1 NA NA NA ENSG00000007350 ENSE00001683721 NA NA NA NA NA NA NA 0.9970262 TRUE NA ENSE00001683721_001 ENSE00001683721 001 X 153553637 153553806 + 48 84 38 G C 153553647 1080 11 GAAATTCATTCTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325300 154325301 154325301 upstr_intron -38 -0.7708333 GAAATTCATTCTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 139 52 0.9921911 1 0.9960955 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.007248039 0.1152039 0.9976816 0.9421176 NA 0.05397794 NA FALSE NA 0.927 0.948 . intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 5/8 1 NA TGT G,C 5.766e-05 X:154325301 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant -0.165749 0.22012 0.11935 0 0.2960127 0.0504749 0.9970262 TRUE 5.6254e-05 ENSE00001683721_002 ENSE00001683721 002 X 153553637 153553806 + 48 84 38 C T 153553652 1081 16 GAAATTCATTGTTTGTTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325305 154325306 154325306 upstr_intron -33 -0.6666667 GAAATTCATTGTTTGTTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 517 35 1 0.9989052 0.9994526 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1141091 0.9976816 0.9421176 NA 0.05733501 NA FALSE NA 0 -0.788 . intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 5/8 1 NA GCT C,T 1.647e-05 X:154325306 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant -0.167592 0.12337 0.01554 0 0.7675419 0.0504749 0.9970262 TRUE NA ENSE00001683721_003 ENSE00001683721 003 X 153553637 153553806 + 48 84 38 C T 153553657 1082 21 GAAATTCATTGTTTGCTTTTTTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325310 154325311 154325311 upstr_intron -28 -0.5625 GAAATTCATTGTTTGCTTTTTTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 656 38 0.996667 0.949235 0.972951 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.002772124 0.06443887 0.9976816 0.9421176 NA 0.03083337 NA FALSE NA 0.001 0.044 . intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 5/8 1 NA TCT C,T 1.647e-05 X:154325311 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant 0.270687 0.22653 0.11923 0 0.7097987 0.0504749 0.9970262 TRUE 5.61413e-06 ENSE00001683721_004 ENSE00001683721 004 X 153553637 153553806 + 48 84 38 A G 153553661 1083 25 GAAATTCATTGTTTGCTTTTCTAAGCCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325314 154325315 154325315 upstr_intron -24 -0.4791667 GAAATTCATTGTTTGCTTTTCTAAGCCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 196 3599 0.9896238 0.9991359 0.9943798 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.009815329 0.1143398 0.9976816 0.9421176 NA 0.05226224 NA FALSE NA 0.423 2.661 . intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 5/8 1 NA AAC A,G 8.237e-06 X:154325315 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant 0.203107 0.29178 0.5568 0 0.5623869 0.0518877 0.9970262 TRUE 5.61612e-06 ENSE00001683721_005 ENSE00001683721 005 X 153553637 153553806 + 48 84 38 C T 153553668 1084 32 GAAATTCATTGTTTGCTTTTCTAAACCATGGTTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325321 154325322 154325322 upstr_intron -17 -0.3333333 GAAATTCATTGTTTGCTTTTCTAAACCATGGTTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 578 493 0.9923694 0.9836125 0.987991 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.00706965 0.09881643 0.9976816 0.9421176 NA 0.04587339 NA FALSE NA 0 0.876 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:154325322 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant 0.003734 0.19411 0.01319 0 0.3407113 0.0518877 0.9970262 TRUE 1.12378e-05 ENSE00001683721_006 ENSE00001683721 006 X 153553637 153553806 + 48 84 38 C G 153553668 1085 32 GAAATTCATTGTTTGCTTTTCTAAACCATGGGTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325321 154325322 154325322 upstr_intron -17 -0.3333333 GAAATTCATTGTTTGCTTTTCTAAACCATGGGTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 790 793 0.9994256 0.999904 0.9996648 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -1.352907e-05 0.1151079 0.9976816 0.9421176 NA 0.05754717 NA FALSE NA 0 0.876 NA NA NA TKTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKTL1 NA NA NA ENSG00000007350 ENSE00001683721 intron_variant -0.071027 0.21731 0.05666 0 0.2679601 0.0518877 0.9970262 TRUE 7.86645e-05 ENSE00001683721_007 ENSE00001683721 007 X 153553637 153553806 + 48 84 38 T C 153553677 1086 41 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTACGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325330 154325331 154325331 upstr_intron -8 -0.1458333 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTACGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 1173 334 0.9978757 1 0.9989379 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.001563345 0.1152039 0.9976816 0.9421176 NA 0.05682028 NA FALSE NA 0.005 0.484 . splice_region_variant&intron_variant LOW TKTL1 HGNC 11835 ENST00000217905 5/8 1 NA ATG T,C 8.237e-06 X:154325331 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 splice_region_variant -0.379241 0.22674 0.08466 0 0.4396998 0.092485 0.9970262 TRUE 5.60768e-06 ENSE00001683721_008 ENSE00001683721 008 X 153553637 153553806 + 48 84 38 C T 153553680 1087 44 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCTCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325333 154325334 154325334 upstr_intron -5 -0.08333333 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCTCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 90 143 1 0.9991976 0.9995988 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1144015 0.9976816 0.9421176 NA 0.0574812 NA FALSE NA 0 0.061 . splice_region_variant&intron_variant LOW TKTL1 HGNC 11835 ENST00000217905 5/8 1 NA CCC C,T 8.237e-06 X:154325334 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 splice_region_variant 0.55798 0.3967 0.06634 0 0.4578494 0.0928335 0.9970262 TRUE 5.59747e-06 ENSE00001683721_009 ENSE00001683721 009 X 153553637 153553806 + 48 84 38 G T 153553685 1088 49 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGTGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325338 154325339 154325339 exon 1 0.01190476 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGTGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 39 500 0.95 0.9335359 0.941768 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.04943909 0.04873984 0.9976816 0.9421176 NA -0.0003496282 NA FALSE NA 1 9.014 . missense_variant&splice_region_variant MODERATE TKTL1 HGNC 11835 ENST00000217905 6/9 1 probably_damaging(1) NA GGG G,T 8.237e-06 X:154325339 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 missense_variant 5.898576 0.96827 0.97526 0 0.9934693 0 0.9970262 TRUE 5.59585e-06 ENSE00001683721_010 ENSE00001683721 010 X 153553637 153553806 + 48 84 38 G A 153553687 1089 51 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGAATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325340 154325341 154325341 exon 3 0.03571429 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGAATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 768 819 0.9938998 0.999907 0.9969034 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.005539332 0.1151109 0.9976816 0.9421176 NA 0.0547858 NA FALSE NA 0.002 -0.898 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:154325341 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 splice_region_variant 0.161231 0.86467 0.06004 0 0.4044619 0 0.9970262 TRUE 1.67846e-05 ENSE00001683721_011 ENSE00001683721 011 X 153553637 153553806 + 48 84 38 G T 153553687 1090 51 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGTATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325340 154325341 154325341 exon 3 0.03571429 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGTATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 264 939 0.9922859 0.9984035 0.9953447 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.007153196 0.1136074 0.9976816 0.9421176 NA 0.05322712 NA FALSE NA 0.002 -0.898 NA NA NA TKTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKTL1 NA NA NA ENSG00000007350 ENSE00001683721 splice_region_variant 0.108637 0.867 0.1167 0 0.4005163 0 0.9970262 TRUE 5.59488e-06 ENSE00001683721_012 ENSE00001683721 012 X 153553637 153553806 + 48 84 38 A G 153553697 1091 61 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCGTTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325350 154325351 154325351 exon 13 0.1547619 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCGTTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 447 288 0.9986108 0.9968889 0.9977498 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.0008283239 0.1120928 0.9976816 0.9421176 NA 0.05563224 NA FALSE NA 1 6.696 . missense_variant MODERATE TKTL1 HGNC 11835 ENST00000217905 6/9 1 benign(0.206) NA CAT A,G 8.237e-06 X:154325351 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 missense_variant 2.349275 0.96044 0.93852 0 0.9928413 0 0.9970262 TRUE 5.59328e-06 ENSE00001683721_014 ENSE00001683721 014 X 153553637 153553806 + 48 84 38 G A 153553710 1093 74 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCAACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325363 154325364 154325364 exon 26 0.3095238 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCAACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 718 796 1 0.9906353 0.9953176 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1058392 0.9976816 0.9421176 NA 0.05320005 NA FALSE NA 0.998 4.783 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:154325364 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 missense_variant 2.71314 0.70189 0.65399 0 0.9979666 0 0.9970262 TRUE 5.03389e-05 ENSE00001683721_015 ENSE00001683721 015 X 153553637 153553806 + 48 84 38 G T 153553710 1094 74 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCTACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325363 154325364 154325364 exon 26 0.3095238 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCTACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 631 2310 1 0.9980377 0.9990188 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1132416 0.9976816 0.9421176 NA 0.05690124 NA FALSE NA 0.998 4.783 NA NA NA TKTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKTL1 NA NA NA ENSG00000007350 ENSE00001683721 missense_variant 5.267163 0.71798 0.84788 0 0.996238 0 0.9970262 TRUE 5.59322e-06 ENSE00001683721_016 ENSE00001683721 016 X 153553637 153553806 + 48 84 38 A G 153553718 1095 82 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAGCTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325371 154325372 154325372 exon 34 0.4047619 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAGCTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 121 496 0.9897095 0.9990739 0.9943917 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.009729576 0.1142778 0.9976816 0.9421176 NA 0.05227413 NA FALSE NA 0.684 5.345 rs140507131 missense_variant MODERATE TKTL1 HGNC 11835 ENST00000217905 6/9 1 benign(0.378) NA AAC A,G 8.237e-06 X:154325372 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 missense_variant 2.768493 0.92037 0.837 0 0.9626522 0 0.9970262 TRUE 1.11856e-05 ENSE00001683721_017 ENSE00001683721 017 X 153553637 153553806 + 48 84 38 A G 153553721 1096 85 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTGTGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325374 154325375 154325375 exon 37 0.4404762 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTGTGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 776 270 0.9998939 0.996984 0.9984389 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0004547926 0.1121879 0.9976816 0.9421176 NA 0.05632135 NA FALSE NA 0 -1.133 . missense_variant MODERATE TKTL1 HGNC 11835 ENST00000217905 6/9 1 benign(0) NA TAT A,G 1.647e-05 X:154325375 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 missense_variant -1.335697 0.14074 0.01176 0 0.3714055 0 0.9970262 TRUE 5.59284e-06 ENSE00001683721_018 ENSE00001683721 018 X 153553637 153553806 + 48 84 38 C T 153553732 1097 96 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTATACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325385 154325386 154325386 exon -37 0.5714286 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTATACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 897 187 0.9032372 0.7959006 0.8495689 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.09620188 -0.08889544 0.9976816 0.9421176 NA -0.09254866 NA FALSE NA 0.024 0.391 . synonymous_variant LOW TKTL1 HGNC 11835 ENST00000217905 6/9 1 NA ACA C,T 8.237e-06 X:154325386 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 synonymous_variant 0.049135 0.43859 0.10858 0 0.5829466 0 0.9970262 TRUE 5.59306e-06 ENSE00001683721_020 ENSE00001683721 020 X 153553637 153553806 + 48 84 38 A G 153553741 1099 105 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAGGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325394 154325395 154325395 exon -28 0.6785714 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAGGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 624 370 0.7911812 0.9893565 0.8902688 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.2082579 0.1045604 0.9976816 0.9421176 NA -0.05184877 NA FALSE NA 0 -1.662 . synonymous_variant LOW TKTL1 HGNC 11835 ENST00000217905 6/9 1 NA AAG G,G 2.471e-05 X:154325395 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 synonymous_variant -0.559821 0.16623 0.04664 0 0.2957036 0 0.9970262 TRUE 2.23727e-05 ENSE00001683721_021 ENSE00001683721 021 X 153553637 153553806 + 48 84 38 C T 153553745 1100 109 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAATGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325398 154325399 154325399 exon -24 0.7261905 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAATGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 366 555 1 0.9990342 0.9995171 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1142381 0.9976816 0.9421176 NA 0.0573995 NA FALSE NA 0.002 0.37 . missense_variant MODERATE TKTL1 HGNC 11835 ENST00000217905 6/9 1 benign(0) NA ACG C,T 2.471e-05 X:154325399 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 missense_variant 2.403082 0.31177 0.09943 0 0.9618461 0 0.9970262 TRUE 2.23747e-05 ENSE00001683721_022 ENSE00001683721 022 X 153553637 153553806 + 48 84 38 G A 153553746 1101 110 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACACTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325399 154325400 154325400 exon -23 0.7380952 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACACTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 821 824 0.8342835 0.9979835 0.9161335 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.1651556 0.1131874 0.9976816 0.9421176 NA -0.02598408 NA FALSE NA 0.001 0.343 . missense_variant MODERATE TKTL1 HGNC 11835 ENST00000217905 6/9 1 benign(0) NA CGC G,A 3.295e-05 X:154325400 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 missense_variant 0.841672 0.261 0.02429 0 0.9342081 0 0.9970262 TRUE 1.11891e-05 ENSE00001683721_023 ENSE00001683721 023 X 153553637 153553806 + 48 84 38 C T 153553747 1102 111 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGTTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325400 154325401 154325401 exon -22 0.75 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGTTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 349 116 0.9942419 1 0.9971209 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.005197231 0.1152039 0.9976816 0.9421176 NA 0.05500334 NA FALSE NA 0.002 0.036 rs150438789 synonymous_variant LOW TKTL1 HGNC 11835 ENST00000217905 6/9 1 NA GCT C,T 0.0001894 X:154325401 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 synonymous_variant 0.929045 0.73739 0.18882 0 0.5770977 0 0.9970262 TRUE 0.000346834 ENSE00001683721_024 ENSE00001683721 024 X 153553637 153553806 + 48 84 38 C G 153553764 1103 128 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGGCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325417 154325418 154325418 exon -5 0.952381 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGGCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 493 679 1 1 1 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1152039 0.9976816 0.9421176 NA 0.05788241 NA FALSE NA 1 6.908 . missense_variant MODERATE TKTL1 HGNC 11835 ENST00000217905 6/9 1 benign(0.042) NA GCC C,G 8.237e-06 X:154325418 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 missense_variant 2.962795 0.96815 0.96248 0 0.9882363 0 0.9970262 TRUE 5.59547e-06 ENSE00001683721_025 ENSE00001683721 025 X 153553637 153553806 + 48 84 38 A G 153553772 1104 136 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAGGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325425 154325426 154325426 downstr_intron 4 1.108108 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAGGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 20 46 0.8128555 0.8108715 0.8118635 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.1865836 -0.07392456 0.9976816 0.9421176 NA -0.1302541 NA FALSE NA 1 3.298 . splice_region_variant&intron_variant LOW TKTL1 HGNC 11835 ENST00000217905 6/8 1 NA AAG A,G 1.647e-05 X:154325426 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 splice_region_variant 0.974893 0.9145 0.69467 0 0.81799 0.319355 0.9970262 TRUE NA ENSE00001683721_026 ENSE00001683721 026 X 153553637 153553806 + 48 84 38 G A 153553773 1105 137 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAAGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325426 154325427 154325427 downstr_intron 5 1.135135 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAAGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 258 297 0.9371698 0.9689127 0.9530412 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.06226933 0.08411663 0.9976816 0.9421176 NA 0.01092365 NA FALSE NA 0.999 3.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:154325427 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 splice_region_variant 0.898906 0.67298 0.39671 0 0.5077576 0.724639 0.9970262 TRUE 5.59998e-06 ENSE00001683721_027 ENSE00001683721 027 X 153553637 153553806 + 48 84 38 G C 153553773 1106 137 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAACGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325426 154325427 154325427 downstr_intron 5 1.135135 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAACGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 1722 418 0.8008418 0.8622254 0.8315336 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.1985973 -0.0225707 0.9976816 0.9421176 NA -0.110584 NA FALSE NA 0.999 3.06 NA NA NA TKTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKTL1 NA NA NA ENSG00000007350 ENSE00001683721 splice_region_variant 0.618709 0.6816 0.41856 0 0.4954664 0.724639 0.9970262 TRUE 5.59998e-06 ENSE00001683721_028 ENSE00001683721 028 X 153553637 153553806 + 48 84 38 G A 153553774 1107 138 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGAGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325427 154325428 154325428 downstr_intron 6 1.162162 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGAGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 472 1101 0.9939821 0.9096492 0.9518156 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.005456969 0.02485308 0.9976816 0.9421176 NA 0.009698054 NA FALSE NA 0.625 0.814 rs183407036 splice_region_variant&intron_variant LOW TKTL1 HGNC 11835 ENST00000217905 6/8 1 NA GGG G,A 0.0001977 X:154325428 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 splice_region_variant 0.42443 0.21047 0.12525 0 0.5596223 0.0597751 0.9970262 TRUE 0.000240801 ENSE00001683721_029 ENSE00001683721 029 X 153553637 153553806 + 48 84 38 G A 153553781 1108 145 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACACGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325434 154325435 154325435 downstr_intron 13 1.351351 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACACGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 149 456 1 0.9914947 0.9957473 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1066986 0.9976816 0.9421176 NA 0.05362973 NA FALSE NA 0 -0.14 rs4898475 intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 6/8 1 NA CGC G,A 0.259 X:154325435 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant 0.066185 0.18548 0.04211 0 0.4274539 0.0518637 0.9970262 TRUE 0.250229 ENSE00001683721_031 ENSE00001683721 031 X 153553637 153553806 + 48 84 38 G A 153553783 1110 147 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCACTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325436 154325437 154325437 downstr_intron 15 1.405405 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCACTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 312 438 1 0.996447 0.9982235 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1116509 0.9976816 0.9421176 NA 0.05610591 NA FALSE NA 0 -0.713 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:154325437 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant -0.196069 0.18422 0.03506 0 0.6219301 0.0518637 0.9970262 TRUE 1.12321e-05 ENSE00001683721_032 ENSE00001683721 032 X 153553637 153553806 + 48 84 38 G T 153553783 1111 147 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCTCTCCTGCGTTATTCAGTATCATC 154325290 154325460 154325436 154325437 154325437 downstr_intron 15 1.405405 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCTCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 21 297 1 0.9920633 0.9960317 0.9992667 0.9960964 0.9994391 0.8847961 NA NA 0.0005609061 0.1072672 0.9976816 0.9421176 NA 0.05391407 NA FALSE NA 0 -0.713 NA NA NA TKTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKTL1 NA NA NA ENSG00000007350 ENSE00001683721 intron_variant -0.39696 0.10228 0.00494 0 0.5260921 0.0518637 0.9970262 TRUE 3.36963e-05 ENSE00001683721_033 ENSE00001683721 033 X 153553637 153553806 + 48 84 38 T G 153553785 1112 149 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCGCCTGCGTTATTCAGTATCATC 154325290 154325460 154325438 154325439 154325439 downstr_intron 17 1.459459 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCGCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 1133 850 0.9981971 0.9987819 0.9984895 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.001242004 0.1139858 0.9976816 0.9421176 NA 0.0563719 NA FALSE NA 0.011 0.784 . intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 6/8 1 NA CTC T,G 1.647e-05 X:154325439 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant 0.224191 0.17083 0.02237 0 0.2952204 0.0518637 0.9970262 TRUE 5.61044e-06 ENSE00001683721_034 ENSE00001683721 034 X 153553637 153553806 + 48 84 38 C T 153553790 1113 154 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGTGTTATTCAGTATCATC 154325290 154325460 154325443 154325444 154325444 downstr_intron 22 1.594595 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGTGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 68 43 0.9905534 0.8974659 0.9440096 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.008885716 0.0126698 0.9976816 0.9421176 NA 0.001892043 NA FALSE NA 0 -2.74 . intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 6/8 1 NA GCG C,T 2.471e-05 X:154325444 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant -0.36982 0.0932 0.00199 0 0.7418782 0.051397 0.9970262 TRUE 2.80975e-05 ENSE00001683721_035 ENSE00001683721 035 X 153553637 153553806 + 48 84 38 G A 153553791 1114 155 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCATTATTCAGTATCATC 154325290 154325460 154325444 154325445 154325445 downstr_intron 23 1.621622 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCATTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 472 1138 0.7389858 0.8971829 0.8180844 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.2604532 0.01238683 0.9976816 0.9421176 NA -0.1240332 NA FALSE NA 0 -0.77 . intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 6/8 1 NA CGT G,A 4.942e-05 X:154325445 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant 0.051299 0.14857 0.03771 0 0.5278851 0.051397 0.9970262 TRUE 2.80953e-05 ENSE00001683721_036 ENSE00001683721 036 X 153553637 153553806 + 48 84 38 T G 153553793 1115 157 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTGATTCAGTATCATC 154325290 154325460 154325446 154325447 154325447 downstr_intron 25 1.675676 GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTGATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC mutant NA NA NA NA NA 2735 861 0.998866 0.9992004 0.9990332 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.0005731131 0.1144043 0.9976816 0.9421176 NA 0.0569156 NA FALSE NA 0 -0.011 . intron_variant MODIFIER TKTL1 HGNC 11835 ENST00000217905 6/8 1 NA TTA T,G 8.237e-06 X:154325447 TKTL1 HGNC Symbol protein_coding 34679 ENSG00000007350 ENSE00001683721 intron_variant 0.247312 0.16947 0.04101 0 0.3597452 0.051397 0.9970262 TRUE 5.63835e-06 ENSE00001683721_BRK ENSE00001683721 BRK X 153553637 153553806 + 48 84 38 A,G; T,T NA NA NA GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTTTGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGCCAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC 154325290 154325460 NA NA NA NA NA NA GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTTTGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGCCAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC GAAATTCATTGTTTGCTTTTCTAAACCATGGCTCCATTTATGCCCTAGGGGATGTGCTTCATTCGGACCACCCGACCAGAAACTATGGTTATTTACACCCCACAAGAACGCTTTGAGATCGGACAGGCCAAGGTAAGGGCTTACGCGCTCCTGCGTTATTCAGTATCATC control NA NA NA NA NA 970 483 0.08506784 0 0.04253392 0.9992667 0.9960964 0.9994391 0.8847961 NA NA -0.9143713 -0.8847961 0.9976816 0.9421176 NA -0.8995837 NA TRUE NA NA NA NA NA NA TKTL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKTL1 NA NA NA ENSG00000007350 ENSE00001683721 NA NA NA NA NA NA NA 0.9970262 TRUE NA ENSE00001683904_000 ENSE00001683904 000 6 70856653 70856822 + 51 78 41 NA NA NA NA NA CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 NA NA NA NA NA NA AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG natural 156 93 0.9974271 0.9942041 0.9958156 9545 7157 0.9639049 0.945131 0.954518 0.9974271 0.9942041 0.9639049 0.945131 0 0 0 0 0.9958156 0.954518 0 0 0 FALSE FALSE NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003744275 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001683904_001 ENSE00001683904 001 6 70856653 70856822 + 51 78 41 C G 70856664 1582 12 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGACACATACATTTT 70146760 70146930 70146771 70146772 70146772 upstr_intron -40 -0.7647059 AAAATGTATGTGTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 103 1982 1 0.9902606 0.9951303 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.03609506 0.0451296 0.9958156 0.954518 NA 0.04061233 NA FALSE NA 0 -0.667 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 26/50 1 NA TCT C,G 8.24e-06 6:70146772 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 intron_variant 0.067736 0.1633 0.02627 0.099367 0.5952118 0.07554 5.55032e-17 FALSE 4.38312e-06 ENSE00001683904_002 ENSE00001683904 002 6 70856653 70856822 + 51 78 41 T G 70856667 1583 15 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCACGAGACATACATTTT 70146760 70146930 70146774 70146775 70146775 upstr_intron -37 -0.7058824 AAAATGTATGTCTCGTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 779 3246 0.9404743 0.9469065 0.9436904 0.9974271 0.9942041 0.9639049 0.945131 NA NA -0.02343064 0.001775467 0.9958156 0.954518 NA -0.01082758 NA FALSE NA 0 0.062 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 26/50 1 NA CTT T,G 8.24e-06 6:70146775 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 intron_variant 0.253966 0.22269 0.06784 0.099367 0.5890187 0.0818383 5.55032e-17 FALSE 1.30978e-05 ENSE00001683904_003 ENSE00001683904 003 6 70856653 70856822 + 51 78 41 C G 70856672 1584 20 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGCCTCAAGAGACATACATTTT 70146760 70146930 70146779 70146780 70146780 upstr_intron -32 -0.6078431 AAAATGTATGTCTCTTGAGGCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 2154 1087 0.9627092 0.96873 0.9657196 0.9974271 0.9942041 0.9639049 0.945131 NA NA -0.001195779 0.02359896 0.9958156 0.954518 NA 0.01120159 NA FALSE NA 0 0.105 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 26/50 1 NA GCC C,G 8.24e-06 6:70146780 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 intron_variant -0.3198 0.23812 0.07728 0.099367 0.3937859 0.0794291 5.55032e-17 FALSE 1.76938e-05 ENSE00001683904_004 ENSE00001683904 004 6 70856653 70856822 + 51 78 41 C A 70856673 1585 21 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAATGCTCAAGAGACATACATTTT 70146760 70146930 70146780 70146781 70146781 upstr_intron -31 -0.5882353 AAAATGTATGTCTCTTGAGCATTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 990 684 0.9963857 0.9996572 0.9980215 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.03248081 0.05452616 0.9958156 0.954518 NA 0.04350349 NA FALSE NA 0 -0.102 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 26/50 1 NA CCT C,A 2.472e-05 6:70146781 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 intron_variant 0.207769 0.22112 0.05335 0.099367 0.3669025 0.0436289 5.55032e-17 FALSE 1.33485e-05 ENSE00001683904_005 ENSE00001683904 005 6 70856653 70856822 + 51 78 41 C A 70856701 1586 49 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTTTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146808 70146809 70146809 upstr_intron -3 -0.03921569 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCAAAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 2004 217 0.01529333 0.006172492 0.01073291 0.9974271 0.9942041 0.9639049 0.945131 NA NA -0.9486116 -0.9389585 0.9958156 0.954518 NA -0.9437851 NA TRUE NA 0.777 1.335 . splice_region_variant&intron_variant LOW COL19A1 HGNC 2196 ENST00000322773 26/50 1 NA ACA C,A 8.239e-06 6:70146809 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 splice_region_variant 1.171824 0.98232 0.84685 0.156188 0.6154844 0.970503 5.55032e-17 FALSE NA ENSE00001683904_006 ENSE00001683904 006 6 70856653 70856822 + 51 78 41 G A 70856707 1587 55 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTTACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146814 70146815 70146815 exon 4 0.05128205 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTAAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 560 1548 0.9799363 0.9983618 0.989149 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.01603132 0.05323082 0.9958156 0.954518 NA 0.03463107 NA FALSE NA 1 6.408 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 27/51 1 deleterious(0) probably_damaging(0.996) NA TGA G,A 1.648e-05 6:70146815 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 missense_variant 4.219316 0.9894 0.96678 0.562547 0.9966061 0 5.55032e-17 FALSE 8.54394e-06 ENSE00001683904_007 ENSE00001683904 007 6 70856653 70856822 + 51 78 41 C T 70856716 1588 64 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAATCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146823 70146824 70146824 exon 13 0.1666667 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGATTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 1407 258 0.98833 1 0.994165 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.02442508 0.054869 0.9958156 0.954518 NA 0.03964704 NA FALSE NA 1 2.534 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 27/51 1 tolerated(0.07) probably_damaging(0.999) NA ACT C,T 8.239e-06 6:70146824 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 missense_variant 3.24607 0.97493 0.86077 0.562547 0.9957993 0 5.55032e-17 FALSE NA ENSE00001683904_009 ENSE00001683904 009 6 70856653 70856822 + 51 78 41 C T 70856730 1590 78 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCATGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146837 70146838 70146838 exon 27 0.3461538 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCATGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 731 1498 0.9864696 0.9947505 0.9906101 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.0225647 0.04961947 0.9958156 0.954518 NA 0.03609209 NA FALSE NA 0.103 -1.245 . synonymous_variant LOW COL19A1 HGNC 2196 ENST00000322773 27/51 rs373282018 1 NA T:0.0002 T:0 ACG C,T 2.472e-05 6:70146838 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 synonymous_variant 0.363886 0.11285 0.01187 0.562547 0.2872562 0 5.55032e-17 FALSE NA ENSE00001683904_010 ENSE00001683904 010 6 70856653 70856822 + 51 78 41 G A 70856731 1591 79 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACTGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146838 70146839 70146839 exon 28 0.3589744 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACAGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 554 584 1 0.9966174 0.9983087 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.03609506 0.05148639 0.9958156 0.954518 NA 0.04379072 NA FALSE NA 1 6.408 rs140296027 missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 27/51 rs140296027 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0003 CGG G,A 0.0002142 6:70146839 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 missense_variant 4.013304 0.9827 0.9626 0.562547 0.9836146 0 5.55032e-17 FALSE 0.000213358 ENSE00001683904_011 ENSE00001683904 011 6 70856653 70856822 + 51 78 41 G A 70856743 1592 91 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTTCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146850 70146851 70146851 exon -39 0.5128205 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGAACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 1368 1969 0.9665118 0.9991376 0.9828247 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.002606853 0.05400658 0.9958156 0.954518 NA 0.02830672 NA FALSE NA 1 6.408 rs144153454 missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 27/51 rs144153454 1 tolerated(0.22) probably_damaging(0.975) NA A:0 A:0.0003 GGA G,A 0.0001813 6:70146851 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 missense_variant 3.256618 0.91365 0.94439 0.562547 0.9903626 0 5.55032e-17 FALSE 0.000178202 ENSE00001683904_012 ENSE00001683904 012 6 70856653 70856822 + 51 78 41 T C 70856747 1593 95 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTGTGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146854 70146855 70146855 exon -35 0.5641026 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACACAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 602 609 0.9991768 0.9985496 0.9988632 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.03527182 0.05341864 0.9958156 0.954518 NA 0.04434523 NA FALSE NA 0.002 -0.948 rs147852988 missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 27/51 rs147852988 1 tolerated(0.37) benign(0.024) NA C:0.0002 C:0 ATA T,C 4.12e-05 6:70146855 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 missense_variant -2.171056 0.11112 0.01651 0.562547 0.3050623 0 5.55032e-17 FALSE 1.31048e-05 ENSE00001683904_013 ENSE00001683904 013 6 70856653 70856822 + 51 78 41 A T 70856761 1594 109 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTAACCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146868 70146869 70146869 exon -21 0.7435897 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGTTAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 56 483 1 0.9923932 0.9961966 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.03609506 0.04726218 0.9958156 0.954518 NA 0.04167862 NA FALSE NA 0.056 -0.511 rs148894182 missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 27/51 rs148894182 1 tolerated(0.35) benign(0.005) NA T:0 T:0.0001 GAT A,T 8.24e-06 6:70146869 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 missense_variant -1.191744 0.19661 0.045 0.562547 0.7450017 0 5.55032e-17 FALSE NA ENSE00001683904_014 ENSE00001683904 014 6 70856653 70856822 + 51 78 41 T A 70856768 1595 116 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGCCAGGATTTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146875 70146876 70146876 exon -14 0.8333333 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAAATCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 806 2110 0.9835886 0.9993221 0.9914554 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.0196837 0.05419111 0.9958156 0.954518 NA 0.0369374 NA FALSE NA 1 1.995 rs185185087 missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 27/51 rs185185087 1 tolerated(0.1) possibly_damaging(0.857) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ATT T,A 8.24e-06 6:70146876 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 missense_variant 4.189141 0.98064 0.87356 0.562547 0.9541934 0 5.55032e-17 FALSE 4.54856e-06 ENSE00001683904_015 ENSE00001683904 015 6 70856653 70856822 + 51 78 41 G T 70856774 1596 122 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTGACAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146881 70146882 70146882 exon -8 0.9102564 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGTCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 783 790 0.9964786 0.9997998 0.9981392 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.03257368 0.05466876 0.9958156 0.954518 NA 0.04362122 NA FALSE NA 1 6.408 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 27/51 1 deleterious(0) probably_damaging(1) NA GGC G,T 8.24e-06 6:70146882 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 missense_variant 3.771022 0.98956 0.97144 0.562547 0.9885944 0 5.55032e-17 FALSE 4.676e-06 ENSE00001683904_017 ENSE00001683904 017 6 70856653 70856822 + 51 78 41 C A 70856775 1598 123 CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTACTGTTCTTCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146882 70146883 70146883 exon -7 0.9230769 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGAAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 351 3776 0.9456289 0.8982427 0.9219358 0.9974271 0.9942041 0.9639049 0.945131 NA NA -0.01827608 -0.04688831 0.9958156 0.954518 NA -0.03258219 NA FALSE NA 0.339 0.302 NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70146883 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 synonymous_variant 0.816887 0.25581 0.08732 0.562547 0.4525931 0 5.55032e-17 FALSE NA ENSE00001683904_018 ENSE00001683904 018 6 70856653 70856822 + 51 78 41 C T 70856798 1599 146 CAATGTTGGAATCAACAAGGACTCAAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146905 70146906 70146906 downstr_intron 17 1.425 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTTGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 5289 993 0.9989507 0.8782728 0.9386118 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.03504579 -0.06685819 0.9958156 0.954518 NA -0.0159062 NA FALSE NA 0 -1.353 rs148336750 intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 27/50 rs148336750 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 8.244e-06 6:70146906 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 intron_variant -0.300716 0.17792 0.02744 0.062308 0.3844354 0.149779 5.55032e-17 FALSE 1.53443e-05 ENSE00001683904_020 ENSE00001683904 020 6 70856653 70856822 + 51 78 41 C G 70856803 1601 151 CAATGTTGGAATCAACAAGCACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146910 70146911 70146911 downstr_intron 22 1.55 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTGCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 2240 734 0.9981065 0.9948818 0.9964941 0.9974271 0.9942041 0.9639049 0.945131 NA NA 0.03420154 0.04975075 0.9958156 0.954518 NA 0.04197615 NA FALSE NA 0.001 0.282 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 27/50 1 NA TCC C,G 8.245e-06 6:70146911 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 intron_variant -0.000882 0.23238 0.03252 0.062308 0.619338 0.149779 5.55032e-17 FALSE 5.22226e-06 ENSE00001683904_021 ENSE00001683904 021 6 70856653 70856822 + 51 78 41 C A 70856804 1602 152 CAATGTTGGAATCAACAATGACTCGAATGAATTTCACTTACTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCCTGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 70146911 70146912 70146912 downstr_intron 23 1.575 AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCATTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG mutant NA NA NA NA NA 1665 1115 0.9422545 0.9999317 0.9710931 0.9974271 0.9942041 0.9639049 0.945131 NA NA -0.02165041 0.05480071 0.9958156 0.954518 NA 0.01657515 NA FALSE NA 0 -0.647 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 27/50 1 NA CCT C,A 8.245e-06 6:70146912 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003744275 intron_variant 0.268895 0.22404 0.02249 0.062308 0.6875142 0.149779 5.55032e-17 FALSE NA ENSE00001683904_BRK ENSE00001683904 BRK 6 70856653 70856822 + 51 78 41 A,G; T,T NA NA NA CAATGTTGGAATCAACAAGGACTCGAATGAATTTCACTTGGTGTTCTGCCAGGAATTCCTATCCCTTGTGGGCCTATGTCCCCTGGGGAACCGTGAACACCTGGAAGTCCTCTTTCACCAAGTGAAATGAAAGGCTTCTGTTACTGCAAGGCTCAAGAGACATACATTTT 70146760 70146930 NA NA NA NA NA NA AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACTTGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACACCAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG AAAATGTATGTCTCTTGAGCCTTGCAGTAACAGAAGCCTTTCATTTCACAGGGTGAAAGAGGACTTCCAGGTGTTCACGGTTCCCCAGGGGACATAGGCCCACAAGGGATAGGAATTCCTGGCAGAACAGTAAGTGAAATTCATTCGAGTCCTTGTTGATTCCAACATTG control 17 86 0.1456378 0 0.07281888 277 946 0.08693997 0 0.04346999 0.9974271 0.9942041 0.9639049 0.945131 -0.8517893 -0.9942041 -0.876965 -0.945131 0.9958156 0.954518 -0.9229967 -0.911048 0.01194875 TRUE TRUE NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003744275 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001684490_000 ENSE00001684490 000 16 14976403 14976572 + 48 84 38 NA NA NA NA NA TACGACAAGCCCCCTTTCTAGAGAGCTGACTCCTGAGTTTTTTTGCAGCCGGGATGTGTGTACCACGTTCAGCTCAAGGCAGAAGGCAACGACCACATTGAGCGGGCGCTCCCCCACCATAGGGTGATTGAGGTAAGGCATTCAGTGCTGCCGCTGCACCTGGGTGTGGG 14882545 14882715 NA NA NA NA NA NA TACGACAAGCCCCCTTTCTAGAGAGCTGACTCCTGAGTTTTTTTGCAGCCGGGATGTGTGTACCACGTTCAGCTCAAGGCAGAAGGCAACGACCACATTGAGCGGGCGCTCCCCCACCATAGGGTGATTGAGGTAAGGCATTCAGTGCTGCCGCTGCACCTGGGTGTGGG TACGACAAGCCCCCTTTCTAGAGAGCTGACTCCTGAGTTTTTTTGCAGCCGGGATGTGTGTACCACGTTCAGCTCAAGGCAGAAGGCAACGACCACATTGAGCGGGCGCTCCCCCACCATAGGGTGATTGAGGTAAGGCATTCAGTGCTGCCGCTGCACCTGGGTGTGGG natural 23 22 0.8257947 0.85 0.8378974 326 1905 0.8475686 0.8152878 0.8314282 0.8257947 0.85 0.8475686 0.8152878 0 0 0 0 0.8378974 0.8314282 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001684490 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001685231_000 ENSE00001685231 000 15 43887530 43887699 + 42 96 32 NA NA NA NA NA ATTCCCTCTCCTTAACCATCTCTCCCTCTTAACTCCCCTTAGGTATTTGCTGACCTGTTTGACCCTGTGATCCAAGAGCGACACAATGGATATGACCCCCGGACAATGAAGCACACCACGGATCTAGATGCCAGTAAAGTGAGTTCAAATATCCCACTTCTGATTTGCAT 43595331 43595501 NA NA NA NA NA NA ATTCCCTCTCCTTAACCATCTCTCCCTCTTAACTCCCCTTAGGTATTTGCTGACCTGTTTGACCCTGTGATCCAAGAGCGACACAATGGATATGACCCCCGGACAATGAAGCACACCACGGATCTAGATGCCAGTAAAGTGAGTTCAAATATCCCACTTCTGATTTGCAT ATTCCCTCTCCTTAACCATCTCTCCCTCTTAACTCCCCTTAGGTATTTGCTGACCTGTTTGACCCTGTGATCCAAGAGCGACACAATGGATATGACCCCCGGACAATGAAGCACACCACGGATCTAGATGCCAGTAAAGTGAGTTCAAATATCCCACTTCTGATTTGCAT natural 10 19 0.9871897 0.995584 0.9913868 797 1167 0.9895294 0.9548911 0.9722103 0.9871897 0.995584 0.9895294 0.9548911 0 0 0 0 0.9913868 0.9722103 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003531055 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001685693_000 ENSE00001685693 000 8 118830642 118830811 - 32 96 42 NA NA NA NA NA GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 NA NA NA NA NA NA TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC natural 57 67 0.9978105 0.9969394 0.9973749 1955 3296 0.8790048 0.9941884 0.9365966 0.9978105 0.9969394 0.8790048 0.9941884 0 0 0 0 0.9973749 0.9365966 0 0 0 FALSE FALSE NA NA NA NA NA EXT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXT1 NA NA NA ENSG00000182197 ENSE00003692259 NA NA NA NA NA NA NA 0.9993205 TRUE NA ENSE00001685693_001 ENSE00001685693 001 8 118830642 118830811 - 32 96 42 G A 118830655 1833 157 GGTTCCACATATAAGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818415 117818416 117818416 downstr_intron 19 1.612903 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACTTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 223 170 1 1 1 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.005811619 0.9973749 0.9365966 NA 0.06340343 NA FALSE NA 0.001 -0.161 . intron_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/9 1 NA AGG G,A 8.236e-06 8:117818416 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 intron_variant 0.189992 0.14224 0.0105 0.099367 0.3119857 0.046323 0.9993205 TRUE 8.12731e-06 ENSE00001685693_003 ENSE00001685693 003 8 118830642 118830811 - 32 96 42 C T 118830664 1835 148 GGTTCCACATATAGGTCCCCTTTGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818424 117818425 117818425 downstr_intron 10 1.322581 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCAAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 93 197 1 1 1 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.005811619 0.9973749 0.9365966 NA 0.06340343 NA FALSE NA 0 -1.12 . intron_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/9 rs374213490 1 NA T:0.0002 T:0 TCG C,T 1.647e-05 8:117818425 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 intron_variant 0.095238 0.15488 0.04074 0.162113 0.427229 0.046323 0.9993205 TRUE 1.21917e-05 ENSE00001685693_004 ENSE00001685693 004 8 118830642 118830811 - 32 96 42 G A 118830665 1836 147 GGTTCCACATATAGGTCCCCTTCAAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818425 117818426 117818426 downstr_intron 9 1.290323 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTTGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 86 240 0.999039 0.9677053 0.9833722 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1200342 -0.02648306 0.9973749 0.9365966 NA 0.04677559 NA FALSE NA 0 -4.178 . intron_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/9 rs368634215 1 NA A:0.0002 A:0 CGA G,A 8.236e-06 8:117818426 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 intron_variant -0.205839 0.09247 0.02486 0.162113 0.5059178 0.046323 0.9993205 TRUE 4.06372e-06 ENSE00001685693_005 ENSE00001685693 005 8 118830642 118830811 - 32 96 42 T C 118830675 1837 137 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCCTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818435 117818436 117818436 exon -2 0.9895833 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAGGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 63 19 0.8989324 1 0.9494662 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.01992759 0.005811619 0.9973749 0.9365966 NA 0.0128696 NA FALSE NA 1 7.651 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW EXT1 HGNC 3512 ENST00000437196 6/10 1 NA CTT T,C 8.236e-06 8:117818436 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 missense_variant 4.897237 0.99368 0.98955 0.706298 0.9984485 0 0.9993205 TRUE 4.06319e-06 ENSE00001685693_006 ENSE00001685693 006 8 118830642 118830811 - 32 96 42 A T 118830690 1838 122 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCATTGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818450 117818451 117818451 exon -17 0.8333333 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCAATGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 58 69 0.9899143 1 0.9949571 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1109095 0.005811619 0.9973749 0.9365966 NA 0.05836055 NA FALSE NA 1 8.906 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 1 NA AAT A,T 8.236e-06 8:117818451 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 missense_variant 6.998292 0.99261 0.99159 0.706298 0.993025 0 0.9993205 TRUE 4.06303e-06 ENSE00001685693_007 ENSE00001685693 007 8 118830642 118830811 - 32 96 42 C T 118830694 1839 118 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGATGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818454 117818455 117818455 exon -21 0.7916667 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCATCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 301 236 1 1 1 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.005811619 0.9973749 0.9365966 NA 0.06340343 NA FALSE NA 1 7.441 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 COSM1454475 1 NA ACG C,T 0.0001647 8:117818455 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 missense_variant 4.170065 0.9901 0.98349 0.706298 0.997593 0 0.9993205 TRUE 0.000211281 ENSE00001685693_008 ENSE00001685693 008 8 118830642 118830811 - 32 96 42 G A 118830695 1840 117 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACAACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818455 117818456 117818456 exon -22 0.78125 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTTGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 488 999 1 0.9991575 0.9995787 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.004969103 0.9973749 0.9365966 NA 0.06298217 NA FALSE NA 0.988 0.221 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 COSM3644539 1 NA CGA G,A 2.471e-05 8:117818456 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 synonymous_variant 1.998659 0.95873 0.74278 0.706298 0.7544393 0 0.9993205 TRUE 2.03136e-05 ENSE00001685693_009 ENSE00001685693 009 8 118830642 118830811 - 32 96 42 C T 118830697 1841 115 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGATGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818457 117818458 117818458 exon -24 0.7604167 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCATCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 175 121 0.988386 1 0.994193 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1093812 0.005811619 0.9973749 0.9365966 NA 0.05759643 NA FALSE NA 1 2.463 rs144397063 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 rs144397063&CM099178 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0003 ACG T,T 0.0001318 8:117818458 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 missense_variant 2.717355 0.95086 0.28895 0.706298 0.8952646 0 0.9993205 TRUE 0.00012189 ENSE00001685693_010 ENSE00001685693 010 8 118830642 118830811 - 32 96 42 G A 118830698 1842 114 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACAACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818458 117818459 117818459 exon -25 0.75 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTTGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 29 164 1 0.9495963 0.9747981 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 -0.0445921 0.9973749 0.9365966 NA 0.03820157 NA FALSE NA 1 1.873 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 1 NA CGA G,A 8.236e-06 8:117818459 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 synonymous_variant 1.995144 0.97037 0.87331 0.706298 0.789769 0 0.9993205 TRUE 8.12559e-06 ENSE00001685693_011 ENSE00001685693 011 8 118830642 118830811 - 32 96 42 C T 118830706 1843 106 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCATAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818466 117818467 117818467 exon -33 0.6666667 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTATGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 108 440 1 0.9992177 0.9996089 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.005029366 0.9973749 0.9365966 NA 0.0630123 NA FALSE NA 1 5.65 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 COSM1551504 1 NA ACA C,T 8.236e-06 8:117818467 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 missense_variant 3.654932 0.98592 0.96984 0.706298 0.9987634 0 0.9993205 TRUE 4.06263e-06 ENSE00001685693_014 ENSE00001685693 014 8 118830642 118830811 - 32 96 42 C T 118830723 1846 89 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGTGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818483 117818484 117818484 exon 47 0.4895833 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCACTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 120 14 1 0.9972345 0.9986172 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.003046102 0.9973749 0.9365966 NA 0.06202067 NA FALSE NA 1 7.441 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 1 NA GCG C,T 3.295e-05 8:117818484 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 missense_variant 8.020157 0.99409 0.98701 0.706298 0.9991731 0 0.9993205 TRUE 3.6566e-05 ENSE00001685693_016 ENSE00001685693 016 8 118830642 118830811 - 32 96 42 T A 118830734 1848 78 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCAGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818494 117818495 117818495 exon 36 0.375 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCTGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 235 483 1 1 1 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.005811619 0.9973749 0.9365966 NA 0.06340343 NA FALSE NA 1 0.993 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 1 NA CTG T,A 8.236e-06 8:117818495 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 synonymous_variant 1.430154 0.96038 0.77849 0.706298 0.7510174 0 0.9993205 TRUE 4.06213e-06 ENSE00001685693_017 ENSE00001685693 017 8 118830642 118830811 - 32 96 42 T G 118830753 1849 59 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAAGTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818513 117818514 117818514 exon 17 0.1770833 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGACTTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 130 367 1 0.9965029 0.9982514 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.002314519 0.9973749 0.9365966 NA 0.06165488 NA FALSE NA 1 7.651 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 1 NA ATT T,G 8.236e-06 8:117818514 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 missense_variant 3.327101 0.99216 0.98871 0.706298 0.9918662 0 0.9993205 TRUE 8.12486e-06 ENSE00001685693_018 ENSE00001685693 018 8 118830642 118830811 - 32 96 42 T C 118830758 1850 54 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCACAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818518 117818519 117818519 exon 12 0.125 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTGTGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 411 46 0.994463 1 0.9972315 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1154582 0.005811619 0.9973749 0.9365966 NA 0.06063492 NA FALSE NA 0.381 -0.489 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 1 NA ATA T,C 8.236e-06 8:117818519 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 synonymous_variant 0.733666 0.95978 0.21292 0.706298 0.7403104 0 0.9993205 TRUE 8.12539e-06 ENSE00001685693_019 ENSE00001685693 019 8 118830642 118830811 - 32 96 42 G A 118830760 1851 52 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAAAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818520 117818521 117818521 exon 10 0.1041667 TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTTTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 44 32 1 1 1 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 0.005811619 0.9973749 0.9365966 NA 0.06340343 NA FALSE NA 1 4.083 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 6/10 1 NA AGA G,A 8.236e-06 8:117818521 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 synonymous_variant 1.359335 0.9804 0.91717 0.706298 0.7798075 0 0.9993205 TRUE 8.12579e-06 ENSE00001685693_020 ENSE00001685693 020 8 118830642 118830811 - 32 96 42 C T 118830785 1852 27 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGTTCATTAGATGGCTGGGGTAGGATGTA 117818402 117818572 117818545 117818546 117818546 upstr_intron -16 -0.3571429 TACATCCTACCCCAGCCATCTAATGAACCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 26 61 1 0.9941275 0.9970638 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1209952 -6.084095e-05 0.9973749 0.9365966 NA 0.0604672 NA FALSE NA 0.003 -0.997 . intron_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 5/9 rs372196988 1 NA T:0.0007 T:0 GCT C,T 7.413e-05 8:117818546 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 intron_variant -0.553596 0.07841 0.02457 0.062308 0.350323 0.0955184 0.9993205 TRUE 6.09632e-05 ENSE00001685693_021 ENSE00001685693 021 8 118830642 118830811 - 32 96 42 G C 118830800 1853 12 GGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGCGGTAGGATGTA 117818402 117818572 117818560 117818561 117818561 upstr_intron -31 -0.7142857 TACATCCTACCGCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC TACATCCTACCCCAGCCATCTAATGAGCCCCATCCCTTTCAGATCATAGTTCTATGGAATTGTGACAAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAAGGAGAGAGCAAGGTAAGACTCGAAGGGGACCTATATGTGGAACC mutant NA NA NA NA NA 409 66 0.9973541 1 0.9986771 0.9978105 0.9969394 0.8790048 0.9941884 NA NA 0.1183494 0.005811619 0.9973749 0.9365966 NA 0.0620805 NA FALSE NA 0.001 0.891 . intron_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 5/9 rs377244398 1 NA C:0 C:0.0001 GGG G,C 8.236e-06 8:117818561 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003692259 intron_variant -0.106308 0.16068 0.12936 0.062308 0.6839218 0.0943135 0.9993205 TRUE 4.06838e-06 ENSE00001685978_000 ENSE00001685978 000 1 86342752 86342921 - 53 54 63 NA NA NA NA NA GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 NA NA NA NA NA NA GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC natural 13 18 0.9337915 0.9997032 0.9667474 5801 5779 0.906541 0.9938487 0.9501949 0.9337915 0.9997032 0.906541 0.9938487 0 0 0 0 0.9667474 0.9501949 0 0 0 FALSE FALSE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003572012 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001685978_002 ENSE00001685978 002 1 86342752 86342921 - 53 54 63 A G 86342798 2349 124 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATCTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877114 85877115 85877115 downstr_intron 7 1.134615 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATCTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 1618 1543 0.8682065 0.7909665 0.8295865 0.9337915 0.9997032 0.906541 0.9938487 NA NA -0.03833449 -0.2028821 0.9667474 0.9501949 NA -0.1206083 NA FALSE NA 0.024 1.404 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 33/57 1 NA AAA A,G 8.279e-06 1:85877115 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 splice_region_variant -0.473839 0.17993 0.05782 0.294411 0.4749271 0.093262 1.063411e-25 FALSE 4.19558e-06 ENSE00001685978_003 ENSE00001685978 003 1 86342752 86342921 - 53 54 63 T A 86342806 2350 116 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGTGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877122 85877123 85877123 exon -2 0.9814815 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGTGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 966 157 0.9599326 0.9756148 0.9677737 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.05339157 -0.01823388 0.9667474 0.9501949 NA 0.01757885 NA FALSE NA 1 4.147 . missense_variant&splice_region_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 33/58 rs370001199 1 probably_damaging(0.949) NA A:0 A:0.0001 CTC T,A 1.656e-05 1:85877123 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 missense_variant 4.441569 0.98003 0.90806 0.693126 0.9820232 0 1.063411e-25 FALSE 4.13633e-06 ENSE00001685978_004 ENSE00001685978 004 1 86342752 86342921 - 53 54 63 T A 86342810 2351 112 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCTTGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877126 85877127 85877127 exon -6 0.9074074 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCTTGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 101 1070 1 0.997066 0.998533 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.09345897 0.003217325 0.9667474 0.9501949 NA 0.04833815 NA FALSE NA 0.345 -0.26 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 33/58 1 benign(0) NA ATG T,A 8.279e-06 1:85877127 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 missense_variant 1.705006 0.94107 0.09141 0.693126 0.7636944 0 1.063411e-25 FALSE 4.13811e-06 ENSE00001685978_008 ENSE00001685978 008 1 86342752 86342921 - 53 54 63 G C 86342828 2355 94 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGAGCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877144 85877145 85877145 exon -24 0.5740741 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGAGCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 107 601 0.9372283 1 0.9686141 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.03068726 0.006151302 0.9667474 0.9501949 NA 0.01841928 NA FALSE NA 0.995 1.386 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 33/58 1 benign(0.011) NA GGT G,C 8.279e-06 1:85877145 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 missense_variant 1.193722 0.96629 0.76839 0.693126 0.8087258 0 1.063411e-25 FALSE 8.27959e-06 ENSE00001685978_009 ENSE00001685978 009 1 86342752 86342921 - 53 54 63 T A 86342836 2356 86 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGTTGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877152 85877153 85877153 exon 23 0.4259259 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGTTGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 406 54 0.9983969 1 0.9991985 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.09185588 0.006151302 0.9667474 0.9501949 NA 0.04900359 NA FALSE NA 1 2.683 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 33/58 1 possibly_damaging(0.523) NA ATC T,A 1.656e-05 1:85877153 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 missense_variant 4.078853 0.96902 0.83717 0.693126 0.9374046 0 1.063411e-25 FALSE 1.2391e-05 ENSE00001685978_012 ENSE00001685978 012 1 86342752 86342921 - 53 54 63 A G 86342861 2359 61 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATACAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877177 85877178 85877178 upstr_intron -3 -0.03174603 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATACAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 263 822 1 0.999209 0.9996045 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.09345897 0.005360335 0.9667474 0.9501949 NA 0.04940965 NA FALSE NA 0.456 0.319 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 32/57 1 NA TAT A,G 1.657e-05 1:85877178 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 splice_region_variant 1.007196 0.962 0.16733 0.061011 0.7394582 0.280111 1.063411e-25 FALSE 8.77663e-06 ENSE00001685978_013 ENSE00001685978 013 1 86342752 86342921 - 53 54 63 T C 86342862 2360 60 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATGTAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877178 85877179 85877179 upstr_intron -4 -0.04761905 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATGTAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 443 366 1 1 1 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.09345897 0.006151302 0.9667474 0.9501949 NA 0.04980513 NA FALSE NA 0.352 -0.614 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 32/57 1 NA ATA T,C 8.285e-06 1:85877179 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 splice_region_variant 0.703483 0.94981 0.06226 0.061011 0.6548806 0.260585 1.063411e-25 FALSE NA ENSE00001685978_014 ENSE00001685978 014 1 86342752 86342921 - 53 54 63 A C 86342868 2361 54 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATGTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877184 85877185 85877185 upstr_intron -10 -0.1428571 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATGTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 462 831 0.8148512 0.9944403 0.9046458 0.9337915 0.9997032 0.906541 0.9938487 NA NA -0.09168979 0.0005915764 0.9667474 0.9501949 NA -0.04554911 NA FALSE NA 1 2.156 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 32/57 1 NA AAA A,C 8.29e-06 1:85877185 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 intron_variant 0.909091 0.96462 0.81975 0.061011 0.7665459 0.26958 1.063411e-25 FALSE NA ENSE00001685978_015 ENSE00001685978 015 1 86342752 86342921 - 53 54 63 A G 86342872 2362 50 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTCTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877188 85877189 85877189 upstr_intron -14 -0.2063492 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTCTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 191 1370 0.9765007 0.9997691 0.9881349 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.06995962 0.005920354 0.9667474 0.9501949 NA 0.03793999 NA FALSE NA 0.029 0.849 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:85877189 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 intron_variant 0.328562 0.32483 0.05906 0.061011 0.7737365 0.127938 1.063411e-25 FALSE 9.15022e-06 ENSE00001685978_016 ENSE00001685978 016 1 86342752 86342921 - 53 54 63 A C 86342872 2363 50 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTGTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877188 85877189 85877189 upstr_intron -14 -0.2063492 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTGTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 155 60 1 1 1 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.09345897 0.006151302 0.9667474 0.9501949 NA 0.04980513 NA FALSE NA 0.029 0.849 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003572012 intron_variant 0.158174 0.33465 0.06635 0.061011 0.7664248 0.127938 1.063411e-25 FALSE 9.15022e-06 ENSE00001685978_018 ENSE00001685978 018 1 86342752 86342921 - 53 54 63 T A 86342876 2365 46 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTATATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877192 85877193 85877193 upstr_intron -18 -0.2698413 GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTATATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 386 64 1 1 1 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.09345897 0.006151302 0.9667474 0.9501949 NA 0.04980513 NA FALSE NA 0.001 -0.044 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:85877193 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 intron_variant -0.130941 0.13914 0.02943 0.061011 0.4448343 0.0847708 1.063411e-25 FALSE 4.63929e-06 ENSE00001685978_019 ENSE00001685978 019 1 86342752 86342921 - 53 54 63 A G 86342888 2366 34 GAATACATTTACTGACATAGAGTAAACTTTTATCCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877204 85877205 85877205 upstr_intron -30 -0.4603175 GAATACATTTACTGACATAGAGTAAACTTTTATCCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 332 696 1 1 1 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.09345897 0.006151302 0.9667474 0.9501949 NA 0.04980513 NA FALSE NA 0.94 2.005 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 32/57 1 NA GAA A,G 8.315e-06 1:85877205 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 intron_variant 0.209547 0.17708 0.54139 0.061011 0.5127238 0.47345 1.063411e-25 FALSE NA ENSE00001685978_020 ENSE00001685978 020 1 86342752 86342921 - 53 54 63 C T 86342900 2367 22 GAATACATTTACTGACATAGAATAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877216 85877217 85877217 upstr_intron -42 -0.6507937 GAATACATTTACTGACATAGAATAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 426 77 0.9444123 1 0.9722062 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.0378713 0.006151302 0.9667474 0.9501949 NA 0.0220113 NA FALSE NA 0 -1.831 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 32/57 1 NA ACT C,T 8.333e-06 1:85877217 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 intron_variant 0.208508 0.1178 0.01061 0.061011 0.5879159 0.0779077 1.063411e-25 FALSE NA ENSE00001685978_021 ENSE00001685978 021 1 86342752 86342921 - 53 54 63 C T 86342902 2368 20 GAATACATTTACTGACATAAAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 85877218 85877219 85877219 upstr_intron -44 -0.6825397 GAATACATTTACTGACATAAAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC mutant NA NA NA NA NA 362 159 0.9567168 0.999004 0.9778604 0.9337915 0.9997032 0.906541 0.9938487 NA NA 0.05017579 0.005155328 0.9667474 0.9501949 NA 0.02766556 NA FALSE NA 0 -0.141 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 32/57 1 NA TCT C,T 8.335e-06 1:85877219 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003572012 intron_variant 0.122708 0.15726 0.03159 0.061011 0.5996278 0.078335 1.063411e-25 FALSE 5.60607e-06 ENSE00001685978_BRK ENSE00001685978 BRK 1 86342752 86342921 - 53 54 63 A,G; T,T NA NA NA GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATTTGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGCCAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC 85877068 85877238 NA NA NA NA NA NA GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATTTGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGCCAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC GAATACATTTACTGACATAGAGTAAACTTTTATTCTCATATCTTAAATTTTATTTTAATATAGGGACTGCGAGGACTGCAAGGTGATGTTGGACCTCCTGGAGAAATGGGCATGGAGGTAAATTTTTTGTGGCTAGTTCTTCTTCATAAATATTCTACTTTTTGTAAGAC control 142 49 0 0 0 1611 686 0 0.0009337002 0.0004668501 0.9337915 0.9997032 0.906541 0.9938487 -0.9337915 -0.9997032 -0.906541 -0.992915 0.9667474 0.9501949 -0.9667474 -0.949728 0.01701934 TRUE TRUE NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003572012 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001686462_000 ENSE00001686462 000 6 30638136 30638305 - 51 57 62 NA NA NA NA NA AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 NA NA NA NA NA NA AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT natural 80 58 0.9935958 0.9949418 0.9942688 4562 5698 0.8417308 0.8643467 0.8530387 0.9935958 0.9949418 0.8417308 0.8643467 0 0 0 0 0.9942688 0.8530387 0 0 0 FALSE FALSE NA NA NA NA NA DHX16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX16 NA NA NA ENSG00000204560 ENSE00001686462 NA NA NA NA NA NA NA 2.011082e-07 FALSE NA ENSE00001686462_001 ENSE00001686462 001 6 30638136 30638305 - 51 57 62 C T 30638152 561 154 AAGTCTTTCCTTTTGTTTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670374 30670375 30670375 downstr_intron 35 1.7 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAAACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 732 750 1 0.9967236 0.9983618 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1582692 0.1323769 0.9942688 0.8530387 NA 0.1453231 NA FALSE NA 0 -0.294 . intron_variant MODIFIER DHX16 HGNC 2739 ENST00000415603 4/5 1 NA TCT C,T 8.52e-06 6:30670375 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 0.292744 0.11942 0.02514 0.295142 0.7532145 0.128127 2.011082e-07 FALSE 4.70894e-06 ENSE00001686462_002 ENSE00001686462 002 6 30638136 30638305 - 51 57 62 G C 30638157 562 149 AAGTCTTTCCTTTTGTCTTCTCATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670379 30670380 30670380 downstr_intron 30 1.6 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATGAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 1932 305 0.9890623 1 0.9945311 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1473315 0.1356533 0.9942688 0.8530387 NA 0.1414924 NA FALSE NA 0.03 0.3 . intron_variant MODIFIER DHX16 HGNC 2739 ENST00000415603 4/5 1 NA TGA G,C 8.519e-06 6:30670380 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 0.143724 0.16753 0.06506 0.295142 0.6845828 0.128127 2.011082e-07 FALSE 9.10183e-06 ENSE00001686462_004 ENSE00001686462 004 6 30638136 30638305 - 51 57 62 G A 30638198 564 108 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCAGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670420 30670421 30670421 exon -12 0.8070175 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACTGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 475 743 0.9970836 0.9997949 0.9984392 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1553529 0.1354482 0.9942688 0.8530387 NA 0.1454005 NA FALSE NA 1 4.054 . missense_variant MODERATE DHX16 HGNC 2739 ENST00000415603 4/6 1 deleterious(0) probably_damaging(0.978) NA CGG G,A 8.53e-05 6:30670421 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 missense_variant 5.801404 0.97885 0.97787 0.706548 0.9991084 0 2.011082e-07 FALSE 7.18197e-05 ENSE00001686462_005 ENSE00001686462 005 6 30638136 30638305 - 51 57 62 C T 30638207 565 99 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTTGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670429 30670430 30670430 exon -21 0.6491228 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCAAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 481 221 1 0.9991104 0.9995552 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1582692 0.1347637 0.9942688 0.8530387 NA 0.1465165 NA FALSE NA 1 4.759 . missense_variant MODERATE DHX16 HGNC 2739 ENST00000415603 4/6 rs539487104 1 tolerated(0.07) probably_damaging(0.92) T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 TCG C,T 0.0002047 6:30670430 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 missense_variant 3.799023 0.98474 0.97167 0.706548 0.9992616 0 2.011082e-07 FALSE 0.000214598 ENSE00001686462_006 ENSE00001686462 006 6 30638136 30638305 - 51 57 62 T C 30638213 566 93 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCACCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670435 30670436 30670436 exon -27 0.5438596 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGGTGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 1591 654 0.9987158 0.9123552 0.9555355 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.156985 0.04800853 0.9942688 0.8530387 NA 0.1024968 NA FALSE NA 1 2.967 . missense_variant MODERATE DHX16 HGNC 2739 ENST00000415603 4/6 1 tolerated(0.09) benign(0.099) NA ATC T,C 8.533e-06 6:30670436 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 missense_variant 1.193841 0.96899 0.94451 0.706548 0.9430525 0 2.011082e-07 FALSE 8.81923e-05 ENSE00001686462_007 ENSE00001686462 007 6 30638136 30638305 - 51 57 62 C T 30638221 567 85 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGTGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670443 30670444 30670444 exon 23 0.4035088 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCACCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 881 1116 0.9727147 0.9964791 0.9845969 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1309839 0.1321324 0.9942688 0.8530387 NA 0.1315582 NA FALSE NA 1 4.792 . missense_variant MODERATE DHX16 HGNC 2739 ENST00000415603 4/6 rs200028840&COSM3697401&COSM274779 1 deleterious(0) probably_damaging(0.996) NA GCG C,T 0.0003755 6:30670444 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 missense_variant 5.903893 0.98309 0.87265 0.706548 0.9994164 0 2.011082e-07 FALSE 0.000298683 ENSE00001686462_008 ENSE00001686462 008 6 30638136 30638305 - 51 57 62 G A 30638222 568 84 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCACTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670444 30670445 30670445 exon 22 0.3859649 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGTGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 749 491 0.9893526 0.9953884 0.9923705 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1476218 0.1310417 0.9942688 0.8530387 NA 0.1393318 NA FALSE NA 1 4.121 . missense_variant MODERATE DHX16 HGNC 2739 ENST00000415603 4/6 1 deleterious(0.02) benign(0.435) NA CGC G,A 1.707e-05 6:30670445 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 missense_variant 5.698075 0.97575 0.96363 0.706548 0.9985685 0 2.011082e-07 FALSE 1.68245e-05 ENSE00001686462_009 ENSE00001686462 009 6 30638136 30638305 - 51 57 62 T G 30638236 569 70 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTGCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670458 30670459 30670459 exon 8 0.1403509 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGCAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 658 5491 0.9922236 0.9983797 0.9953017 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1504929 0.134033 0.9942688 0.8530387 NA 0.1422629 NA FALSE NA 1 4.958 . missense_variant MODERATE DHX16 HGNC 2739 ENST00000415603 4/6 1 tolerated(0.05) possibly_damaging(0.521) NA TTC T,G 1.707e-05 6:30670459 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 missense_variant 2.732971 0.98846 0.98316 0.706548 0.9957999 0 2.011082e-07 FALSE 2.94861e-05 ENSE00001686462_010 ENSE00001686462 010 6 30638136 30638305 - 51 57 62 G A 30638247 570 59 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAAAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670469 30670470 30670470 upstr_intron -4 -0.0483871 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTTTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 801 1989 0.9975757 0.9999013 0.9987385 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.155845 0.1355547 0.9942688 0.8530387 NA 0.1456998 NA FALSE NA 0 -0.125 . splice_region_variant&intron_variant LOW DHX16 HGNC 2739 ENST00000415603 3/5 1 NA AGA G,A 8.533e-06 6:30670470 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 splice_region_variant 0.465102 0.19201 0.12967 0.062308 0.5552111 0.179528 2.011082e-07 FALSE 4.22583e-06 ENSE00001686462_011 ENSE00001686462 011 6 30638136 30638305 - 51 57 62 G C 30638250 571 56 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAACAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670472 30670473 30670473 upstr_intron -7 -0.09677419 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTGTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 1927 810 0.9982763 0.9998047 0.9990405 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1565455 0.135458 0.9942688 0.8530387 NA 0.1460018 NA FALSE NA 0.008 -0.046 . splice_region_variant&intron_variant LOW DHX16 HGNC 2739 ENST00000415603 3/5 1 NA AGA G,C 8.535e-06 6:30670473 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 splice_region_variant -0.436629 0.21223 0.1907 0.062308 0.5373727 0.101567 2.011082e-07 FALSE 4.24957e-06 ENSE00001686462_012 ENSE00001686462 012 6 30638136 30638305 - 51 57 62 A G 30638252 572 54 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAGAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670474 30670475 30670475 upstr_intron -9 -0.1290323 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTCTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 146 277 1 1 1 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1582692 0.1356533 0.9942688 0.8530387 NA 0.1469613 NA FALSE NA 0.717 1.572 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:30670475 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 0.111078 0.09123 0.22677 0.062308 0.5616412 0.0905099 2.011082e-07 FALSE 8.48284e-06 ENSE00001686462_013 ENSE00001686462 013 6 30638136 30638305 - 51 57 62 A T 30638252 573 54 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGATAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670474 30670475 30670475 upstr_intron -9 -0.1290323 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTATCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 1677 1422 0.9987816 0.9918187 0.9953001 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1570508 0.127472 0.9942688 0.8530387 NA 0.1422614 NA FALSE NA 0.717 1.572 NA NA NA DHX16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX16 NA NA NA ENSG00000204560 ENSE00001686462 intron_variant -0.044778 0.20042 0.7091 0.062308 0.6907306 0.0905099 2.011082e-07 FALSE 4.24142e-06 ENSE00001686462_014 ENSE00001686462 014 6 30638136 30638305 - 51 57 62 G A 30638264 574 42 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATAGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670486 30670487 30670487 upstr_intron -21 -0.3225806 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCTATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 588 1261 0.9928872 0.9945127 0.9937 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1511565 0.130166 0.9942688 0.8530387 NA 0.1406613 NA FALSE NA 0 -1.104 . intron_variant MODIFIER DHX16 HGNC 2739 ENST00000415603 3/5 rs556241821 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGG G,A 8.534e-05 6:30670487 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 0.327885 0.14671 0.02286 0.062308 0.7008493 0.0715225 2.011082e-07 FALSE 7.29113e-05 ENSE00001686462_015 ENSE00001686462 015 6 30638136 30638305 - 51 57 62 G A 30638265 575 41 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGAAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670487 30670488 30670488 upstr_intron -22 -0.3387097 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTTCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 1183 2059 0.9965595 1 0.9982797 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1548287 0.1356533 0.9942688 0.8530387 NA 0.145241 NA FALSE NA 0 -0.592 . intron_variant MODIFIER DHX16 HGNC 2739 ENST00000415603 3/5 1 NA GGA G,A 8.535e-06 6:30670488 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 0.069457 0.12716 0.01354 0.062308 0.7025657 0.0715225 2.011082e-07 FALSE 4.31682e-06 ENSE00001686462_016 ENSE00001686462 016 6 30638136 30638305 - 51 57 62 G A 30638269 576 37 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGAGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670491 30670492 30670492 upstr_intron -26 -0.4032258 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACTCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 870 3360 0.8891501 0.932944 0.911047 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.04741929 0.06859731 0.9942688 0.8530387 NA 0.0580083 NA FALSE NA 0 0.21 . intron_variant MODIFIER DHX16 HGNC 2739 ENST00000415603 3/5 1 NA GGG G,A 2.559e-05 6:30670492 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 0.342737 0.14772 0.07293 0.062308 0.7128774 0.0743386 2.011082e-07 FALSE 1.73255e-05 ENSE00001686462_017 ENSE00001686462 017 6 30638136 30638305 - 51 57 62 T G 30638273 577 33 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGGGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670495 30670496 30670496 upstr_intron -30 -0.4677419 AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCCCACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 116 163 0.9985722 0.998793 0.9986826 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1568414 0.1344463 0.9942688 0.8530387 NA 0.1456439 NA FALSE NA 0.094 0.569 . intron_variant MODIFIER DHX16 HGNC 2739 ENST00000415603 3/5 1 NA GTG T,G 8.53e-06 6:30670496 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 0.74662 0.24366 0.21311 0.062308 0.6783942 0.0743386 2.011082e-07 FALSE 1.74503e-05 ENSE00001686462_019 ENSE00001686462 019 6 30638136 30638305 - 51 57 62 G A 30638277 579 29 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGACCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 30670499 30670500 30670500 upstr_intron -34 -0.5322581 AGCAGCTGTCAGTGTGGGGGCTCTTTGGTCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 733 397 0.9952967 0.9949293 0.995113 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.153566 0.1305827 0.9942688 0.8530387 NA 0.1420743 NA FALSE NA 0.002 -0.658 . intron_variant MODIFIER DHX16 HGNC 2739 ENST00000415603 3/5 1 NA GGC G,A 1.706e-05 6:30670500 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 1.380161 0.12569 0.03744 0.062308 0.8053096 0.0743386 2.011082e-07 FALSE NA ENSE00001686462_020 ENSE00001686462 020 6 30638136 30638305 - 51 57 62 A G 30638291 580 15 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCGCACTGACAGCTGCT 30670358 30670528 30670513 30670514 30670514 upstr_intron -48 -0.7580645 AGCAGCTGTCAGTGCGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 792 81 0.9231157 1 0.9615579 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.08138497 0.1356533 0.9942688 0.8530387 NA 0.1085192 NA FALSE NA 0 -0.863 . intron_variant MODIFIER DHX16 HGNC 2739 ENST00000415603 3/5 1 NA CAC A,G 8.521e-06 6:30670514 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 1.223291 0.17796 0.11038 0.062308 0.823548 0.0692434 2.011082e-07 FALSE NA ENSE00001686462_021 ENSE00001686462 021 6 30638136 30638305 - 51 57 62 C G 30638292 581 14 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCAGACTGACAGCTGCT 30670358 30670528 30670514 30670515 30670515 upstr_intron -49 -0.7741935 AGCAGCTGTCAGTCTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 327 33 0.9986074 1 0.9993037 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1568766 0.1356533 0.9942688 0.8530387 NA 0.146265 NA FALSE NA 0 -1.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:30670515 DHX16 HGNC Symbol protein_coding 19918 ENSG00000204560 ENSE00001686462 intron_variant 0.910229 0.15222 0.10753 0.062308 0.776918 0.0692434 2.011082e-07 FALSE 1.40125e-05 ENSE00001686462_022 ENSE00001686462 022 6 30638136 30638305 - 51 57 62 C T 30638292 582 14 AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCACCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCCTAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCATACTGACAGCTGCT 30670358 30670528 30670514 30670515 30670515 upstr_intron -49 -0.7741935 AGCAGCTGTCAGTATGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT mutant NA NA NA NA NA 181 1331 1 0.9440044 0.9720022 0.9935958 0.9949418 0.8417308 0.8643467 NA NA 0.1582692 0.07965774 0.9942688 0.8530387 NA 0.1189635 NA FALSE NA 0 -1.731 NA NA NA DHX16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX16 NA NA NA ENSG00000204560 ENSE00001686462 intron_variant 1.073004 0.15373 0.06313 0.062308 0.8437743 0.0692434 2.011082e-07 FALSE 9.34169e-06 ENSE00001686462_BRK ENSE00001686462 BRK 6 30638136 30638305 - 51 57 62 A,G; T,T NA NA NA AAGTCTTTCCTTTTGTCTTCTGATCTTGGCTCCCTAGGCCCTGGGACTCGGCATGGCCTTCCGGTCTTCCTCGGCCATCTTGAGGCGCTTCTGAGCCTCTTCATAAGCAAAGAAGAAAAAACAAGAATGGAGGGGTGTGAGGCCAAAGAGCCCCCACACTGACAGCTGCT 30670358 30670528 NA NA NA NA NA NA AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTTTGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGCCGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT AGCAGCTGTCAGTGTGGGGGCTCTTTGGCCTCACACCCCTCCATTCTTGTTTTTTCTTCTAGGCTTATGAAGAGGCTCAGAAGCGCCTCAAGATGGCCGAGGAAGACCGGAAGGCCATGGTGAGTCCCAGGGCCTAGGGAGCCAAGATCAGAAGACAAAAGGAAAGACTT control 124 56 0 0 0 765 524 0.006755927 0.05917755 0.03296674 0.9935958 0.9949418 0.8417308 0.8643467 -0.9935958 -0.9949418 -0.8349748 -0.8051691 0.9942688 0.8530387 -0.9942688 -0.820072 0.1741968 TRUE TRUE NA NA NA NA NA DHX16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX16 NA NA NA ENSG00000204560 ENSE00001686462 NA NA NA NA NA NA NA 2.011082e-07 FALSE NA ENSE00001686530_000 ENSE00001686530 000 15 28446572 28446741 - 30 99 41 NA NA NA NA NA GTTCTCCTGTTTTTTTGTTTGAATGTATTTATTTCTTGCAGTCTACTGGTGCTGTTGTGACGGAGAGCCAGACGTACAAAAAACGAGCTGATTTCTTGAGTAATGATGATTATGCTGTATATGTGAGAGAGAATATTCAGGTGAGTAATTGTCTTAAGCTGGAGCCTCGA 28201425 28201595 NA NA NA NA NA NA GTTCTCCTGTTTTTTTGTTTGAATGTATTTATTTCTTGCAGTCTACTGGTGCTGTTGTGACGGAGAGCCAGACGTACAAAAAACGAGCTGATTTCTTGAGTAATGATGATTATGCTGTATATGTGAGAGAGAATATTCAGGTGAGTAATTGTCTTAAGCTGGAGCCTCGA GTTCTCCTGTTTTTTTGTTTGAATGTATTTATTTCTTGCAGTCTACTGGTGCTGTTGTGACGGAGAGCCAGACGTACAAAAAACGAGCTGATTTCTTGAGTAATGATGATTATGCTGTATATGTGAGAGAGAATATTCAGGTGAGTAATTGTCTTAAGCTGGAGCCTCGA natural NA NA NA NA NA 235 323 0.9893792 0.9985735 0.9939763 NA NA 0.9893792 0.9985735 NA NA 0 0 NA 0.9939763 NA 0 NA FALSE NA NA NA NA NA NA HERC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HERC2 NA NA NA ENSG00000128731 ENSE00003514203 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001686530_005 ENSE00001686530 005 15 28446572 28446741 - 30 99 41 A G 28446600 107 142 GTTCTCCTGTTTTTTTGTTTGAATGTATTTATTTCTTGCAGTCTACTGGTGCTGTTGTGACGGAGAGCCAGACGTACAAAAAACGAGCTGATTTCTTGAGTAATGATGATTATGCTGTATATGTGAGAGAGAATATTCAGGCGAGTAATTGTCTTAAGCTGGAGCCTCGA 28201425 28201595 28201453 28201454 28201454 downstr_intron 2 1.068966 GTTCTCCTGTTTTTTTGTTTGAATGTATTTATTTCTTGCAGTCTACTGGTGCTGTTGTGACGGAGAGCCAGACGTACAAAAAACGAGCTGATTTCTTGAGTAATGATGATTATGCTGTATATGTGAGAGAGAATATTCAGGCGAGTAATTGTCTTAAGCTGGAGCCTCGA GTTCTCCTGTTTTTTTGTTTGAATGTATTTATTTCTTGCAGTCTACTGGTGCTGTTGTGACGGAGAGCCAGACGTACAAAAAACGAGCTGATTTCTTGAGTAATGATGATTATGCTGTATATGTGAGAGAGAATATTCAGGTGAGTAATTGTCTTAAGCTGGAGCCTCGA mutant NA NA NA NA NA 73 22 0 0 0 NA NA 0.9893792 0.9985735 NA NA -0.9893792 -0.9985735 NA 0.9939763 NA -0.9939763 NA TRUE NA 1 9.112 . splice_donor_variant&non_coding_transcript_variant HIGH HERC2 HGNC 4868 ENST00000567869 3/9 1 NA CAC A,G 8.237e-06 15:28201454 HERC2 HGNC Symbol protein_coding 211112 ENSG00000128731 ENSE00003514203 splice_donor_variant 5.125177 0.99303 0.99266 0.295142 0.995418 0.962022 1 TRUE 4.07634e-06 ENSE00001687147_000 ENSE00001687147 000 9 137671880 137672049 + 68 45 57 NA NA NA NA NA CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 NA NA NA NA NA NA CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC natural NA NA NA NA NA 31 788 0.9519461 0.9989727 0.9754594 NA NA 0.9519461 0.9989727 NA NA 0 0 NA 0.9754594 NA 0 NA FALSE NA NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001687147 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001687147_002 ENSE00001687147 002 9 137671880 137672049 + 68 45 57 G A 137671905 3717 26 CCTGCGACAGCTCTAGAAAGGCTGAAACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780058 134780059 134780059 upstr_intron -43 -0.6176471 CCTGCGACAGCTCTAGAAAGGCTGAAACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 106 57 0.9894479 1 0.9947239 NA NA 0.9519461 0.9989727 NA NA 0.03750172 0.001027286 NA 0.9754594 NA 0.0192645 NA FALSE NA 0 0.102 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 27/65 1 NA AGA G 3.295e-05 9:134780059 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant -0.115073 0.16415 0.03919 0.099367 0.571276 0.0521688 1 TRUE 2.03305e-05 ENSE00001687147_003 ENSE00001687147 003 9 137671880 137672049 + 68 45 57 T A 137671911 3718 32 GCTGGAATTCGGCTCCGGACTAAGCAGGGGGCCCCGTGGCTGCAAGGAGAGACTTACCTTCTCGCCCTTTGTGCCCTTCAGACCACGGATGCCATCGGCCCCCTGTGCGGGTGGGAAAAGAAAAAGGAGTGAATGGTTTCAAGTCTCAGCCTTTCTAGAGCTGTCGCAGG 134780033 134780203 134780064 134780065 134780065 upstr_intron -37 -0.5294118 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGAAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 177 374 1 0.9995919 0.999796 NA NA 0.9519461 0.9989727 NA NA 0.04805387 0.0006192202 NA 0.9754594 NA 0.02433654 NA FALSE NA 0.028 1.636 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 27/65 rs200898838 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 GTA T 0.0001071 9:134780065 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant 0.311096 0.22605 0.09547 0.099367 0.6166394 0.0521688 1 TRUE 0.000101622 ENSE00001687147_004 ENSE00001687147 004 9 137671880 137672049 + 68 45 57 C T 137671923 3719 44 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTTCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780076 134780077 134780077 upstr_intron -25 -0.3529412 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTTCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 748 517 0.999559 1 0.9997795 NA NA 0.9519461 0.9989727 NA NA 0.04761289 0.001027286 NA 0.9754594 NA 0.02432009 NA FALSE NA 0 0.154 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 27/65 rs374770348 1 NA T:0 T:0.0001 TCC C 0.0001071 9:134780077 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant 0.120558 0.15024 0.01089 0.099367 0.6899532 0.0521688 1 TRUE 9.7538e-05 ENSE00001687147_005 ENSE00001687147 005 9 137671880 137672049 + 68 45 57 T C 137671925 3720 46 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCCTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780078 134780079 134780079 upstr_intron -23 -0.3235294 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCCTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 928 108 0.9985722 0.9898816 0.9942269 NA NA 0.9519461 0.9989727 NA NA 0.04662608 -0.009091115 NA 0.9754594 NA 0.01876748 NA FALSE NA 0 0.746 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 27/65 1 NA CTT T 8.237e-06 9:134780079 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant 0.076583 0.20185 0.00615 0.099367 0.4807674 0.089894 1 TRUE NA ENSE00001687147_006 ENSE00001687147 006 9 137671880 137672049 + 68 45 57 T C 137671927 3721 48 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTCTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780080 134780081 134780081 upstr_intron -21 -0.2941176 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTCTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 442 40 0.9989713 1 0.9994856 NA NA 0.9519461 0.9989727 NA NA 0.04702516 0.001027286 NA 0.9754594 NA 0.02402622 NA FALSE NA 0 0.032 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 27/65 1 NA TTT T 8.237e-06 9:134780081 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant -0.135415 0.19503 0.0099 0.099367 0.4739233 0.0521688 1 TRUE 4.06355e-06 ENSE00001687147_008 ENSE00001687147 008 9 137671880 137672049 + 68 45 57 G A 137671942 3723 63 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCACACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780095 134780096 134780096 upstr_intron -6 -0.07352941 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCACACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 72 29 1 1 1 NA NA 0.9519461 0.9989727 NA NA 0.04805387 0.001027286 NA 0.9754594 NA 0.02454058 NA FALSE NA 0 0.065 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134780096 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 splice_region_variant 0.279532 0.22105 0.06364 0.162113 0.6671068 0.138251 1 TRUE 5.68902e-05 ENSE00001687147_009 ENSE00001687147 009 9 137671880 137672049 + 68 45 57 G T 137671942 3724 63 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCTCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780095 134780096 134780096 upstr_intron -6 -0.07352941 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCTCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 547 49 0.9994722 1 0.9997361 NA NA 0.9519461 0.9989727 NA NA 0.04752603 0.001027286 NA 0.9754594 NA 0.02427666 NA FALSE NA 0 0.065 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001687147 splice_region_variant 0.166616 0.21724 0.04234 0.162113 0.667346 0.138251 1 TRUE NA ENSE00001687147_010 ENSE00001687147 010 9 137671880 137672049 + 68 45 57 C T 137671952 3725 73 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGTCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780105 134780106 134780106 exon 5 0.1111111 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGTCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 45 171 1 1 1 NA NA 0.9519461 0.9989727 NA NA 0.04805387 0.001027286 NA 0.9754594 NA 0.02454058 NA FALSE NA 0.99 4.825 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 28/66 1 unknown(0) NA GCC C 8.237e-06 9:134780106 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 missense_variant 2.994475 0.98316 0.97076 0.706298 0.9984073 0 1 TRUE 4.06332e-06 ENSE00001687147_012 ENSE00001687147 012 9 137671880 137672049 + 68 45 57 A G 137671960 3727 81 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCGTCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780113 134780114 134780114 exon 13 0.2888889 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCGTCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 147 179 1 0.9837547 0.9918773 NA NA 0.9519461 0.9989727 NA NA 0.04805387 -0.01521804 NA 0.9754594 NA 0.01641791 NA FALSE NA 1 3.002 rs146870918 missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 28/66 rs146870918 1 unknown(0) NA G:0.0002 G:0.0001 CAT A 2.471e-05 9:134780114 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 missense_variant 0.585608 0.97108 0.74441 0.706298 0.9256907 0 1 TRUE 1.62524e-05 ENSE00001687147_016 ENSE00001687147 016 9 137671880 137672049 + 68 45 57 A G 137671996 3731 117 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAGGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780149 134780150 134780150 downstr_intron 4 1.071429 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAGGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 330 1336 0.9700128 0.9552683 0.9626406 NA NA 0.9519461 0.9989727 NA NA 0.01806667 -0.04370439 NA 0.9754594 NA -0.01281886 NA FALSE NA 1 2.761 . splice_region_variant&intron_variant LOW COL5A1 HGNC 2209 ENST00000371817 28/65 1 NA AAG A 1.647e-05 9:134780150 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 splice_region_variant 0.514389 0.95386 0.37955 0.099367 0.5452132 0.356274 1 TRUE 8.12942e-06 ENSE00001687147_019 ENSE00001687147 019 9 137671880 137672049 + 68 45 57 C A 137672008 3734 129 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGAAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780161 134780162 134780162 downstr_intron 16 1.285714 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGAAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 783 118 1 0.9986574 0.9993287 NA NA 0.9519461 0.9989727 NA NA 0.04805387 -0.0003153628 NA 0.9754594 NA 0.02386925 NA FALSE NA 0 -0.787 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134780162 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant -0.088397 0.11614 0.01523 0.099367 0.3700475 0.0527663 1 TRUE 4.06759e-06 ENSE00001687147_021 ENSE00001687147 021 9 137671880 137672049 + 68 45 57 C T 137672014 3736 135 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCATGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780167 134780168 134780168 downstr_intron 22 1.392857 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCATGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 282 38 1 1 1 NA NA 0.9519461 0.9989727 NA NA 0.04805387 0.001027286 NA 0.9754594 NA 0.02454058 NA FALSE NA 0 -3.1 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 28/65 1 NA ACG T 4.119e-05 9:134780168 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant -0.07862 0.0685 0.00247 0.099367 0.7513941 0.0527663 1 TRUE 6.51095e-05 ENSE00001687147_022 ENSE00001687147 022 9 137671880 137672049 + 68 45 57 G A 137672015 3737 136 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACAGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC 134780033 134780203 134780168 134780169 134780169 downstr_intron 23 1.410714 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACAGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 108 56 1 1 1 NA NA 0.9519461 0.9989727 NA NA 0.04805387 0.001027286 NA 0.9754594 NA 0.02454058 NA FALSE NA 0 -0.048 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 28/65 1 NA CGG G 5.766e-05 9:134780169 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant -0.036286 0.13861 0.00653 0.099367 0.831191 0.0527663 1 TRUE 5.29092e-05 ENSE00001687147_024 ENSE00001687147 024 9 137671880 137672049 + 68 45 57 G T 137672030 3739 151 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTATTCCGGAGCCGAATTCCAGC 134780033 134780203 134780183 134780184 134780184 downstr_intron 38 1.678571 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTATTCCGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 292 587 0.9934801 1 0.9967401 NA NA 0.9519461 0.9989727 NA NA 0.04153397 0.001027286 NA 0.9754594 NA 0.02128063 NA FALSE NA 0.003 0.659 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 28/65 1 NA AGT G 1.648e-05 9:134780184 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant -0.136621 0.1528 0.03272 0.099367 0.5665859 0.0527663 1 TRUE 8.15016e-06 ENSE00001687147_025 ENSE00001687147 025 9 137671880 137672049 + 68 45 57 C T 137672033 3740 154 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCTGGAGCCGAATTCCAGC 134780033 134780203 134780186 134780187 134780187 downstr_intron 41 1.732143 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCTGGAGCCGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 97 521 0.9791464 0.7976244 0.8883854 NA NA 0.9519461 0.9989727 NA NA 0.02720028 -0.2013483 NA 0.9754594 NA -0.08707399 NA FALSE NA 0 -1.166 rs149516949 intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 28/65 rs149516949 1 T:0.0066 T:0.0234 T:0.0029 NA T:0 T:0 T:0 T:0.0182 T:0.0001 CCG C 0.001623 9:134780187 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant 0.041146 0.16752 0.01235 0.099367 0.6895068 0.0527663 1 TRUE 0.00133685 ENSE00001687147_027 ENSE00001687147 027 9 137671880 137672049 + 68 45 57 C T 137672039 3742 160 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCTGAATTCCAGC 134780033 134780203 134780192 134780193 134780193 downstr_intron 47 1.839286 CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCTGAATTCCAGC CCTGCGACAGCTCTAGAAAGGCTGAGACTTGTAACCATTCACTCCTTTTTCTTTTCCCACCCGCACAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGTAAGTCTCTCCTTGCAGCCACGGGGCCCCCTGCTTAGTCCGGAGCCGAATTCCAGC mutant NA NA NA NA NA 528 16 1 1 1 NA NA 0.9519461 0.9989727 NA NA 0.04805387 0.001027286 NA 0.9754594 NA 0.02454058 NA FALSE NA 0 -3.126 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 28/65 rs368464825 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0006 CCG C 0.0001401 9:134780193 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001687147 intron_variant -0.259095 0.09795 0.00605 0.099367 0.7807582 0.0527663 1 TRUE 0.000134604 ENSE00001687232_000 ENSE00001687232 000 X 102338499 102338668 - 38 84 48 NA NA NA NA NA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA 103083570 103083740 NA NA NA NA NA NA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA natural NA NA NA NA NA 624 472 0.9742117 0.9999193 0.9870655 NA NA 0.9742117 0.9999193 NA NA 0 0 NA 0.9870655 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NXF3 NA NA NA ENSG00000147206 ENSE00003476296 NA NA NA NA NA NA NA 0.008537813 FALSE NA ENSE00001687232_003 ENSE00001687232 003 X 102338499 102338668 - 38 84 48 C A 102338548 823 121 CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCTTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA 103083570 103083740 103083619 103083620 103083620 exon -12 0.8690476 CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCTTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA mutant NA NA NA NA NA 31 17 0.9538656 0.990581 0.9722233 NA NA 0.9742117 0.9999193 NA NA -0.02034606 -0.009338297 NA 0.9870655 NA -0.01484218 NA FALSE NA 0.975 2.45 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:103083620 NXF3 HGNC Symbol protein_coding 17315 ENSG00000147206 ENSE00003476296 missense_variant 2.221113 0.26539 0.39279 0 0.9831036 0 0.008537813 FALSE 3.3577e-05 ENSE00001687232_004 ENSE00001687232 004 X 102338499 102338668 - 38 84 48 C T 102338548 824 121 TCCTGTTTTCTCTCGTCTGCCTCACGGTCCTTTCTTACCTCAACTGGGATGAAGGGTACACTGCATTCATTCTGAATCAAATTCAGCAGCCACTTCTCATTGTATTTTATGCCAAAGGGAACCTATGAGTGAAAGAAAGAATGAGTGAGGAAAGGAGACTGACATAATGG 103083570 103083740 103083619 103083620 103083620 exon -12 0.8690476 CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCATCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA mutant NA NA NA NA NA 1011 18 0.9979798 0.88615 0.9420649 NA NA 0.9742117 0.9999193 NA NA 0.02376804 -0.1137694 NA 0.9870655 NA -0.04500066 NA FALSE NA 0.975 2.45 NA NA NA NXF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NXF3 NA NA NA ENSG00000147206 ENSE00003476296 missense_variant 0.5927 0.09883 0.00223 0 0.848339 0 0.008537813 FALSE 5.59616e-05 ENSE00001687232_012 ENSE00001687232 012 X 102338499 102338668 - 38 84 48 T A 102338608 832 61 CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCTTAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA 103083570 103083740 103083679 103083680 103083680 exon 13 0.1547619 CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCTTAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA mutant NA NA NA NA NA 65 136 1 1 1 NA NA 0.9742117 0.9999193 NA NA 0.02578829 8.066932e-05 NA 0.9870655 NA 0.01293448 NA FALSE NA 0.093 2.553 . upstream_gene_variant MODIFIER NXF3 HGNC 8073 ENST00000494300 1 NA ATG T,A 8.237e-06 X:103083680 NXF3 HGNC Symbol protein_coding 17315 ENSG00000147206 ENSE00003476296 missense_variant 3.238604 0.98566 0.67301 0 0.9859278 0 0.008537813 FALSE 5.60045e-06 ENSE00001687232_014 ENSE00001687232 014 X 102338499 102338668 - 38 84 48 G A 102338627 834 42 CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCATTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA 103083570 103083740 103083698 103083699 103083699 upstr_intron -7 -0.125 CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCATTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA mutant NA NA NA NA NA 225 137 1 1 1 NA NA 0.9742117 0.9999193 NA NA 0.02578829 8.066932e-05 NA 0.9870655 NA 0.01293448 NA FALSE NA 0 -0.973 . upstream_gene_variant MODIFIER NXF3 HGNC 8073 ENST00000494300 1 NA AGT G,A 6.589e-05 X:103083699 NXF3 HGNC Symbol protein_coding 17315 ENSG00000147206 ENSE00003476296 splice_region_variant -0.383347 0.13853 0.00964 0 0.5799835 0.112744 0.008537813 FALSE 5.07703e-05 ENSE00001687232_017 ENSE00001687232 017 X 102338499 102338668 - 38 84 48 G A 102338652 837 17 CCATTATGTCAGTCTCTTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA 103083570 103083740 103083723 103083724 103083724 upstr_intron -32 -0.6458333 CCATTATGTCAGTCTCTTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA mutant NA NA NA NA NA 1753 1088 0.9994116 0.9968215 0.9981166 NA NA 0.9742117 0.9999193 NA NA 0.02519991 -0.003097792 NA 0.9870655 NA 0.01105106 NA FALSE NA 0 -1.087 . upstream_gene_variant MODIFIER NXF3 HGNC 8073 ENST00000494300 1 NA AGG G,A 8.237e-06 X:103083724 NXF3 HGNC Symbol protein_coding 17315 ENSG00000147206 ENSE00003476296 intron_variant 0.192943 0.20964 0.03816 0 0.7055005 0.116809 0.008537813 FALSE 5.71971e-06 ENSE00001687232_018 ENSE00001687232 018 X 102338499 102338668 - 38 84 48 G T 102338655 838 14 TCCTGTTTTCTCTCGTCTGCCTCACGGTCCTTTCTTACCTCAACTGGGACGAAGGGTACACTGCATTCATTCTGAATCAAATTCAGCAGCCACTTCTCATTGTATTTTATGCCAAAGGGAACCTATGAGTGAAAGAAAGAATGAGTGAGGAAAGGATACTGACATAATGG 103083570 103083740 103083726 103083727 103083727 upstr_intron -35 -0.7083333 CCATTATGTCAGTATCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA CCATTATGTCAGTCTCCTTTCCTCACTCATTCTTTCTTTCACTCATAGGTTCCCTTTGGCATAAAATACAATGAGAAGTGGCTGCTGAATTTGATTCAGAATGAATGCAGTGTACCCTTCGTCCCAGTTGAGGTAAGAAAGGACCGTGAGGCAGACGAGAGAAAACAGGA mutant NA NA NA NA NA 222 527 1 0.9889577 0.9944789 NA NA 0.9742117 0.9999193 NA NA 0.02578829 -0.01096161 NA 0.9870655 NA 0.007413339 NA FALSE NA 0 -0.354 . upstream_gene_variant MODIFIER NXF3 HGNC 8073 ENST00000494300 1 NA AGA G,T 1.647e-05 X:103083727 NXF3 HGNC Symbol protein_coding 17315 ENSG00000147206 ENSE00003476296 intron_variant 0.024309 0.20661 0.05824 0 0.688278 0.116809 0.008537813 FALSE 1.14881e-05 ENSE00001687385_000 ENSE00001687385 000 22 22036681 22036850 + 45 90 35 NA NA NA NA NA AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 NA NA NA NA NA NA AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT natural 61 129 0.9753219 0.9010833 0.9382026 1143 2641 0.9693083 0.7910377 0.880173 0.9753219 0.9010833 0.9693083 0.7910377 0 0 0 0 0.9382026 0.880173 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPIL2 NA NA NA ENSG00000100023 ENSE00003537909 NA NA NA NA NA NA NA 0.02749299 FALSE NA ENSE00001687385_002 ENSE00001687385 002 22 22036681 22036850 + 45 90 35 C A 22036692 203 12 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTTCCCCAAGCCTT 21682391 21682561 21682402 21682403 21682403 upstr_intron -34 -0.7333333 AAGGCTTGGGGAAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 416 498 0.9872079 0.9931452 0.9901765 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.01789957 0.2021075 0.9382026 0.880173 NA 0.1100035 NA FALSE NA 0 -0.853 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:21682403 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 intron_variant 0.580752 0.16111 0.05021 0.256867 0.751657 0.0479844 0.02749299 FALSE NA ENSE00001687385_003 ENSE00001687385 003 22 22036681 22036850 + 45 90 35 A T 22036697 204 17 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGAAGCCTGCCCCAAGCCTT 21682391 21682561 21682407 21682408 21682408 upstr_intron -29 -0.6222222 AAGGCTTGGGGCAGGCTTCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 163 19 0.9567848 0.9915835 0.9741842 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.0125235 0.2005458 0.9382026 0.880173 NA 0.09401117 NA FALSE NA 0 -1.035 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:21682408 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 intron_variant -0.016419 0.14694 0.04634 0.256867 0.6896634 0.0629255 0.02749299 FALSE 8.14989e-06 ENSE00001687385_004 ENSE00001687385 004 22 22036681 22036850 + 45 90 35 A G 22036697 205 17 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGACGCCTGCCCCAAGCCTT 21682391 21682561 21682407 21682408 21682408 upstr_intron -29 -0.6222222 AAGGCTTGGGGCAGGCGTCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 262 128 0.9734378 0.9463784 0.9599081 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.004129529 0.1553407 0.9382026 0.880173 NA 0.0797351 NA FALSE NA 0 -1.035 NA NA NA PPIL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPIL2 NA NA NA ENSG00000100023 ENSE00003537909 intron_variant 0.158624 0.14656 0.04721 0.256867 0.515719 0.0629255 0.02749299 FALSE 1.22248e-05 ENSE00001687385_005 ENSE00001687385 005 22 22036681 22036850 + 45 90 35 T C 22036698 206 18 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGGTGCCTGCCCCAAGCCTT 21682391 21682561 21682408 21682409 21682409 upstr_intron -28 -0.6 AAGGCTTGGGGCAGGCACCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 798 68 0.9747105 0.9360741 0.9553923 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.00540218 0.1450364 0.9382026 0.880173 NA 0.07521927 NA FALSE NA 0 -2.035 . intron_variant MODIFIER PPIL2 HGNC 9261 ENST00000398831 7/19 1 NA ATC T,C 8.237e-06 22:21682409 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 intron_variant 0.008066 0.12356 0.01026 0.256867 0.3786999 0.0629255 0.02749299 FALSE 4.07349e-06 ENSE00001687385_006 ENSE00001687385 006 22 22036681 22036850 + 45 90 35 C T 22036699 207 19 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACAATGCCTGCCCCAAGCCTT 21682391 21682561 21682409 21682410 21682410 upstr_intron -27 -0.5777778 AAGGCTTGGGGCAGGCATTGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 84 1079 0.9663524 0.9532373 0.9597949 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.002955955 0.1621996 0.9382026 0.880173 NA 0.07962184 NA FALSE NA 0 -5.316 . intron_variant MODIFIER PPIL2 HGNC 9261 ENST00000398831 7/19 rs201223799 1 NA T:0.0002 T:0 TCG C,T 7.413e-05 22:21682410 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 intron_variant 0.202827 0.10525 0.01324 0.256867 0.5278708 0.0629255 0.02749299 FALSE 4.48167e-05 ENSE00001687385_007 ENSE00001687385 007 22 22036681 22036850 + 45 90 35 C T 22036707 208 27 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTAGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682417 21682418 21682418 upstr_intron -19 -0.4 AAGGCTTGGGGCAGGCATCGTAAAACTACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 157 260 0.9709624 0.9998535 0.9854079 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.001654035 0.2088158 0.9382026 0.880173 NA 0.1052349 NA FALSE NA 0 -0.622 . intron_variant MODIFIER PPIL2 HGNC 9261 ENST00000398831 7/19 1 NA CCA C,T 8.237e-06 22:21682418 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 intron_variant 0.339926 0.16325 0.0168 0.256867 0.8623485 0.0629255 0.02749299 FALSE 4.06941e-06 ENSE00001687385_008 ENSE00001687385 008 22 22036681 22036850 + 45 90 35 G A 22036719 209 39 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGTCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682429 21682430 21682430 upstr_intron -7 -0.1333333 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGACTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 1028 601 0.9170694 0.9646702 0.9408698 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.05223895 0.1736325 0.9382026 0.880173 NA 0.06069679 NA FALSE NA 0.001 0.146 . splice_region_variant&intron_variant LOW PPIL2 HGNC 9261 ENST00000398831 7/19 rs374736196 1 NA A:0 A:0.0001 GGC G,A 8.236e-06 22:21682430 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 splice_region_variant 0.307803 0.22603 0.09162 0.256867 0.8006553 0.0730418 0.02749299 FALSE NA ENSE00001687385_009 ENSE00001687385 009 22 22036681 22036850 + 45 90 35 A G 22036754 210 74 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCCTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682464 21682465 21682465 exon 29 0.3222222 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAGGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 1219 278 0.8008148 0.801428 0.8011214 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.1684935 0.01039027 0.9382026 0.880173 NA -0.07905163 NA FALSE NA 1 8.964 rs138822922 missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 rs138822922 1 deleterious(0.05) benign(0.434) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 G:0.0005 G:0 AAG A,G 1.647e-05 22:21682465 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 3.290941 0.9668 0.9849 0.706548 0.998366 0 0.02749299 FALSE 1.21886e-05 ENSE00001687385_010 ENSE00001687385 010 22 22036681 22036850 + 45 90 35 C G 22036761 211 81 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGCAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682471 21682472 21682472 exon 36 0.4 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTGCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 761 2505 0.8599375 0.8277896 0.8438636 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.1093708 0.03675191 0.9382026 0.880173 NA -0.03630944 NA FALSE NA 0.972 0.156 . missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 1 tolerated(0.26) benign(0.007) NA TCC C,G 1.647e-05 22:21682472 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 2.859269 0.91008 0.75438 0.706548 0.9848334 0 0.02749299 FALSE 8.1277e-06 ENSE00001687385_011 ENSE00001687385 011 22 22036681 22036850 + 45 90 35 C T 22036762 212 82 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCAGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682472 21682473 21682473 exon 37 0.4111111 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCTGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 173 99 0.9923843 0.9505776 0.9714809 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.02307594 0.1595399 0.9382026 0.880173 NA 0.0913079 NA FALSE NA 0.997 1.812 . missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 1 deleterious(0) probably_damaging(0.927) NA CCG C,T 1.647e-05 22:21682473 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 7.357299 0.90964 0.72985 0.706548 0.9991526 0 0.02749299 FALSE 1.21918e-05 ENSE00001687385_012 ENSE00001687385 012 22 22036681 22036850 + 45 90 35 G A 22036763 213 83 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCTGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682473 21682474 21682474 exon 38 0.4222222 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCAGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 1428 211 0.9930039 0.9722583 0.9826311 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.02369559 0.1812206 0.9382026 0.880173 NA 0.1024581 NA FALSE NA 1 2.955 rs141435071 missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 rs141435071 1 tolerated(0.07) benign(0.126) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0012 CGG G,A 0.0009307 22:21682474 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 4.37024 0.92908 0.67188 0.706548 0.9993324 0 0.02749299 FALSE 0.000650295 ENSE00001687385_013 ENSE00001687385 013 22 22036681 22036850 + 45 90 35 C T 22036767 214 87 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGATCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682477 21682478 21682478 exon 42 0.4666667 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGATCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 611 1453 0.9746815 0.9607214 0.9677015 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.005373227 0.1696837 0.9382026 0.880173 NA 0.08752846 NA FALSE NA 1 0.739 . synonymous_variant LOW PPIL2 HGNC 9261 ENST00000398831 8/20 1 NA ACC C,T 1.647e-05 22:21682478 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 synonymous_variant 1.881414 0.9082 0.56212 0.706548 0.8864052 0 0.02749299 FALSE 2.03207e-05 ENSE00001687385_014 ENSE00001687385 014 22 22036681 22036850 + 45 90 35 C T 22036768 215 88 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAAGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682478 21682479 21682479 exon 43 0.4777778 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACTTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 641 500 0.9610729 0.8977275 0.9294002 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.008235413 0.1066898 0.9382026 0.880173 NA 0.04922719 NA FALSE NA 1 2.414 NA NA NA PPIL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:21682479 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 synonymous_variant 1.732014 0.9367 0.84171 0.706548 0.9261991 0 0.02749299 FALSE 0.00118675 ENSE00001687385_016 ENSE00001687385 016 22 22036681 22036850 + 45 90 35 C T 22036775 217 95 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGATCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682485 21682486 21682486 exon -41 0.5555556 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGATCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 190 1110 0.9932587 0.9929842 0.9931214 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.02395034 0.2019465 0.9382026 0.880173 NA 0.1129484 NA FALSE NA 1 4.716 . missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 1 deleterious(0) probably_damaging(0.94) NA ACC C,T 8.237e-06 22:21682486 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 5.692406 0.94826 0.93785 0.706548 0.9982198 0 0.02749299 FALSE 1.21963e-05 ENSE00001687385_017 ENSE00001687385 017 22 22036681 22036850 + 45 90 35 G A 22036777 218 97 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTTGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682487 21682488 21682488 exon -39 0.5777778 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCAACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 2508 388 0.9908947 0.9454425 0.9681686 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.02158637 0.1544048 0.9382026 0.880173 NA 0.08799559 NA FALSE NA 1 7.734 rs139225452 missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 rs139225452 1 deleterious(0.02) benign(0.406) NA A:0 A:0.0001 CGA G,A 2.471e-05 22:21682488 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 5.203007 0.95876 0.95235 0.706548 0.9990587 0 0.02749299 FALSE 1.62662e-05 ENSE00001687385_018 ENSE00001687385 018 22 22036681 22036850 + 45 90 35 C T 22036779 219 99 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCATCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682489 21682490 21682490 exon -37 0.6 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGATGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 839 2532 0.9614164 0.9322532 0.9468348 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.007891956 0.1412155 0.9382026 0.880173 NA 0.06666178 NA FALSE NA 0.603 -0.284 . synonymous_variant LOW PPIL2 HGNC 9261 ENST00000398831 8/20 1 NA ACG C,T 2.471e-05 22:21682490 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 synonymous_variant 2.239975 0.85684 0.10285 0.706548 0.8604594 0 0.02749299 FALSE 3.65949e-05 ENSE00001687385_019 ENSE00001687385 019 22 22036681 22036850 + 45 90 35 G A 22036780 220 100 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTTGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682490 21682491 21682491 exon -36 0.6111111 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACAAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 177 833 0.9624667 0.9418257 0.9521462 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.006841618 0.150788 0.9382026 0.880173 NA 0.0719732 NA FALSE NA 1 7.691 . missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 rs201854982&COSM269932 1 deleterious(0.04) benign(0.377) A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 A:0 A:0.0001 CGA G,A 4.942e-05 22:21682491 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 4.582505 0.95949 0.95895 0.706548 0.9992917 0 0.02749299 FALSE 6.91344e-05 ENSE00001687385_020 ENSE00001687385 020 22 22036681 22036850 + 45 90 35 C T 22036791 221 111 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGAGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682501 21682502 21682502 exon -25 0.7333333 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCTCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 206 433 0.9289511 0.966299 0.947625 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.04035718 0.1752612 0.9382026 0.880173 NA 0.06745203 NA FALSE NA 0.372 0.055 . synonymous_variant LOW PPIL2 HGNC 9261 ENST00000398831 8/20 1 NA CCC C,T 1.647e-05 22:21682502 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 synonymous_variant 2.448209 0.90156 0.40845 0.706548 0.8502203 0 0.02749299 FALSE 2.03497e-05 ENSE00001687385_021 ENSE00001687385 021 22 22036681 22036850 + 45 90 35 C A 22036792 222 112 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCTGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682502 21682503 21682503 exon -24 0.7444444 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCAGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 180 294 1 0.9935345 0.9967673 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.03069168 0.2024968 0.9382026 0.880173 NA 0.1165942 NA FALSE NA 0.383 0.523 rs116934312 synonymous_variant LOW PPIL2 HGNC 9261 ENST00000398831 8/20 rs116934312 1 A:0.0238 A:0 A:0 NA A:0.1171 A:0 A:0.001 A:0 A:0.0005 CCG C,A 0.008714 22:21682503 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 synonymous_variant 3.156762 0.91503 0.47858 0.706548 0.9037817 0 0.02749299 FALSE 0.00852164 ENSE00001687385_022 ENSE00001687385 022 22 22036681 22036850 + 45 90 35 G A 22036793 223 113 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCTGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682503 21682504 21682504 exon -23 0.7555556 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCAGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 643 1023 0.9839473 0.9894995 0.9867234 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.01463894 0.1984618 0.9382026 0.880173 NA 0.1065503 NA FALSE NA 1 6.371 . missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 1 deleterious(0) possibly_damaging(0.742) NA CGG G,A 8.237e-06 22:21682504 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 5.884532 0.94771 0.92315 0.706548 0.9995898 0 0.02749299 FALSE 2.03615e-05 ENSE00001687385_023 ENSE00001687385 023 22 22036681 22036850 + 45 90 35 A G 22036799 224 119 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGCCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682509 21682510 21682510 exon -17 0.8222222 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGGCATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 677 538 0.8231626 0.8004699 0.8118163 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.1461457 0.009432173 0.9382026 0.880173 NA -0.06835676 NA FALSE NA 1 9.016 . missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 1 deleterious(0.02) probably_damaging(0.999) NA GAC A,G 8.237e-06 22:21682510 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 4.940529 0.9668 0.97747 0.706548 0.9986956 0 0.02749299 FALSE 8.14677e-06 ENSE00001687385_024 ENSE00001687385 024 22 22036681 22036850 + 45 90 35 A G 22036804 225 124 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTGACGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682514 21682515 21682515 exon -12 0.8777778 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCGTCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 341 1118 0.9920109 0.9879147 0.9899628 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.02270261 0.196877 0.9382026 0.880173 NA 0.1097898 NA FALSE NA 1 2.034 . missense_variant MODERATE PPIL2 HGNC 9261 ENST00000398831 8/20 1 tolerated(0.07) benign(0.211) NA CAT A,G 8.237e-06 22:21682515 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 missense_variant 3.497289 0.92644 0.78878 0.706298 0.9931484 0 0.02749299 FALSE NA ENSE00001687385_025 ENSE00001687385 025 22 22036681 22036850 + 45 90 35 C T 22036806 226 126 AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCACCTGGAGGGTAATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682516 21682517 21682517 exon -10 0.9 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATTACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 496 96 0.7424538 0.8991725 0.8208131 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.2268545 0.1081348 0.9382026 0.880173 NA -0.05935987 NA FALSE NA 1 1.158 . synonymous_variant LOW PPIL2 HGNC 9261 ENST00000398831 8/20 COSM3552421 1 NA TCA C,T 4.942e-05 22:21682517 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 synonymous_variant 1.498529 0.90382 0.73749 0.706298 0.7912402 0 0.02749299 FALSE 5.30599e-05 ENSE00001687385_028 ENSE00001687385 028 22 22036681 22036850 + 45 90 35 C A 22036824 229 144 AAGGCAGCTGGGGCAGGCAGGCAGGGTACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682534 21682535 21682535 downstr_intron 9 1.264706 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTACCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 432 447 0.9932358 0.9927918 0.9930138 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.02392743 0.2017541 0.9382026 0.880173 NA 0.1128408 NA FALSE NA 0.001 0.973 NA NA NA PPIL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:21682535 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 intron_variant 0.617293 0.26895 0.22336 0.069865 0.8424609 0.0853846 0.02749299 FALSE 2.47696e-05 ENSE00001687385_029 ENSE00001687385 029 22 22036681 22036850 + 45 90 35 C T 22036830 230 150 AAGGCAGCTGGGGCAGGCAGACAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682540 21682541 21682541 downstr_intron 15 1.441176 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGTCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 11 502 1 0.9950086 0.9975043 0.9753219 0.9010833 0.9693083 0.7910377 NA NA 0.03069168 0.2039709 0.9382026 0.880173 NA 0.1173313 NA FALSE NA 0 -0.236 . intron_variant MODIFIER PPIL2 HGNC 9261 ENST00000398831 8/19 1 NA GCC C,T 1.648e-05 22:21682541 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 intron_variant 0.759346 0.25282 0.04439 0.069865 0.8848646 0.0853846 0.02749299 FALSE NA ENSE00001687385_030 ENSE00001687385 030 22 22036681 22036850 + 45 90 35 C T 22036835 231 155 AAGGCAGCTGGGGCAAGCAGGCAGGGGACACTCACCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCCTATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 21682545 21682546 21682546 downstr_intron 20 1.588235 AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCTTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT mutant NA NA NA NA NA 719 103 0.8769196 1 0.9384598 0.9753219 0.9010833 0.9693083 0.7910377 NA NA -0.09238873 0.2089623 0.9382026 0.880173 NA 0.05828678 NA FALSE NA 0 -0.796 . intron_variant MODIFIER PPIL2 HGNC 9261 ENST00000398831 8/19 1 NA CCT C,T 8.238e-06 22:21682546 PPIL2 HGNC Symbol protein_coding 34006 ENSG00000100023 ENSE00003537909 intron_variant 0.662796 0.22948 0.04575 0.069865 0.8765201 0.0613959 0.02749299 FALSE 4.17011e-06 ENSE00001687385_BRK ENSE00001687385 BRK 22 22036681 22036850 + 45 90 35 A,G; T,T NA NA NA AAGGCAGCTGGGGCAGGCAGGCAGGGGACACTCGGCTGGAGGGTGATGATGTCCTGCCGGGAGAAGGGCTCGTCGGTCAGCAGGTCCCGGAAGTTCTTGGCCTTGATATTTAGCTGTTCCACTGCAAATAGCCAGGAGGAAGTGGTTTTACGATGCCTGCCCCAAGCCTT 21682391 21682561 NA NA NA NA NA NA AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATTTGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGCCGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT AAGGCTTGGGGCAGGCATCGTAAAACCACTTCCTCCTGGCTATAGGCAGTGGAACAGCTAAATATCAAGGCCAAGAACTTCCGGGACCTGCTGACCGACGAGCCCTTCTCCCGGCAGGACATCATCACCCTCCAGGTGAGTGTCCCCTGCCTGCCTGCCCCAGCTGCCTT control 12 65 0 0 0 63 178 0 0 0 0.9753219 0.9010833 0.9693083 0.7910377 -0.9753219 -0.9010833 -0.9693083 -0.7910377 0.9382026 0.880173 -0.9382026 -0.880173 0.0580296 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPIL2 NA NA NA ENSG00000100023 ENSE00003537909 NA NA NA NA NA NA NA 0.02749299 FALSE NA ENSE00001688034_000 ENSE00001688034 000 19 19447937 19448106 + 42 96 32 NA NA NA NA NA TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC 19337127 19337297 NA NA NA NA NA NA TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC natural NA NA NA NA NA 838 207 0.8767903 1 0.9383952 NA NA 0.8767903 1 NA NA 0 0 NA 0.9383952 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAU2 NA NA NA ENSG00000129933 ENSE00001688034 NA NA NA NA NA NA NA 0.9997178 TRUE NA ENSE00001688034_001 ENSE00001688034 001 19 19447937 19448106 + 42 96 32 A T 19447951 1837 15 TTTTTTTTTCTTACTTTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC 19337127 19337297 19337141 19337142 19337142 upstr_intron -28 -0.6428571 TTTTTTTTTCTTACTTTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 712 31 0.9885454 1 0.9942727 NA NA 0.8767903 1 NA NA 0.111755 0 NA 0.9383952 NA 0.05587752 NA FALSE NA 0.001 0.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:19337142 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 intron_variant -0.471818 0.16149 0.00781 0.295142 0.6469155 0.126996 0.9997178 TRUE NA ENSE00001688034_002 ENSE00001688034 002 19 19447937 19448106 + 42 96 32 A G 19447951 1838 15 TTTTTTTTTCTTACGTTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC 19337127 19337297 19337141 19337142 19337142 upstr_intron -28 -0.6428571 TTTTTTTTTCTTACGTTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 84 93 1 1 1 NA NA 0.8767903 1 NA NA 0.1232097 0 NA 0.9383952 NA 0.06160483 NA FALSE NA 0.001 0.049 NA NA NA MAU2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAU2 NA NA NA ENSG00000129933 ENSE00001688034 intron_variant -0.243285 0.1683 0.04445 0.295142 0.3385002 0.126996 0.9997178 TRUE NA ENSE00001688034_003 ENSE00001688034 003 19 19447937 19448106 + 42 96 32 G A 19447985 1839 49 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCATTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC 19337127 19337297 19337175 19337176 19337176 exon 7 0.07291667 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCATTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 99 101 1 1 1 NA NA 0.8767903 1 NA NA 0.1232097 0 NA 0.9383952 NA 0.06160483 NA FALSE NA 1 9.766 . missense_variant MODERATE MAU2 HGNC 29140 ENST00000392313 4/19 rs377208266 1 tolerated(0.39) benign(0.013) NA A:0 A:0.0001 CGT G,A 8.277e-06 19:19337176 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 missense_variant 2.240138 0.98999 0.99069 0.706548 0.9874084 0 0.9997178 TRUE 4.0704e-06 ENSE00001688034_009 ENSE00001688034 009 19 19447937 19448106 + 42 96 32 G T 19448055 1845 119 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCTCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC 19337127 19337297 19337245 19337246 19337246 exon -20 0.8020833 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCTCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 13 1064 0.95 1 0.975 NA NA 0.8767903 1 NA NA 0.07320966 0 NA 0.9383952 NA 0.03660483 NA FALSE NA 1 9.766 . missense_variant MODERATE MAU2 HGNC 29140 ENST00000392313 4/19 1 deleterious(0) probably_damaging(0.997) NA CGC G,T 8.273e-06 19:19337246 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 missense_variant 7.329487 0.9912 0.99244 0.706548 0.9976211 0 0.9997178 TRUE 4.07047e-06 ENSE00001688034_010 ENSE00001688034 010 19 19447937 19448106 + 42 96 32 C T 19448056 1846 120 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGTCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC 19337127 19337297 19337246 19337247 19337247 exon -19 0.8125 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGTCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 168 23 0.9918879 1 0.9959439 NA NA 0.8767903 1 NA NA 0.1150975 0 NA 0.9383952 NA 0.05754877 NA FALSE NA 1 1.034 . synonymous_variant LOW MAU2 HGNC 29140 ENST00000392313 4/19 1 NA GCC C,T 1.655e-05 19:19337247 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 synonymous_variant 1.870235 0.97174 0.82936 0.706548 0.9302844 0 0.9997178 TRUE 8.13948e-06 ENSE00001688034_011 ENSE00001688034 011 19 19447937 19448106 + 42 96 32 C T 19448083 1847 147 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACTGCGGCCCGGGAACGAGGGTGCCC 19337127 19337297 19337273 19337274 19337274 downstr_intron 9 1.290323 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACTGCGGCCCGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 140 336 1 0.9983984 0.9991992 NA NA 0.8767903 1 NA NA 0.1232097 -0.001601634 NA 0.9383952 NA 0.06080401 NA FALSE NA 0 -2.422 . intron_variant MODIFIER MAU2 HGNC 29140 ENST00000392313 4/18 rs376689252 1 NA T:0 T:0.0001 CCG C,T 5.792e-05 19:19337274 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 intron_variant 0.448155 0.19138 0.00744 0.062308 0.8701027 0.0566322 0.9997178 TRUE 4.11096e-05 ENSE00001688034_012 ENSE00001688034 012 19 19447937 19448106 + 42 96 32 G A 19448084 1848 148 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCACGGCCCGGGAACGAGGGTGCCC 19337127 19337297 19337274 19337275 19337275 downstr_intron 10 1.322581 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCACGGCCCGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 159 282 1 0.9954866 0.9977433 NA NA 0.8767903 1 NA NA 0.1232097 -0.004513361 NA 0.9383952 NA 0.05934815 NA FALSE NA 0 -4.053 . intron_variant MODIFIER MAU2 HGNC 29140 ENST00000392313 4/18 1 NA CGC G,A 8.274e-06 19:19337275 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 intron_variant 0.311604 0.16356 0.0071 0.062308 0.852306 0.0566322 0.9997178 TRUE 4.11377e-06 ENSE00001688034_014 ENSE00001688034 014 19 19447937 19448106 + 42 96 32 C T 19448090 1850 154 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCTGGGAACGAGGGTGCCC 19337127 19337297 19337280 19337281 19337281 downstr_intron 16 1.516129 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCTGGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 204 60 0.9977387 1 0.9988694 NA NA 0.8767903 1 NA NA 0.1209484 0 NA 0.9383952 NA 0.06047419 NA FALSE NA 0 -1.072 . intron_variant MODIFIER MAU2 HGNC 29140 ENST00000392313 4/18 rs369779968 1 NA T:0.0003 T:0.0001 CCG C,T 1.655e-05 19:19337281 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 intron_variant 0.44797 0.24007 0.05018 0.099367 0.6112102 0.0490032 0.9997178 TRUE 2.48314e-05 ENSE00001688034_016 ENSE00001688034 016 19 19447937 19448106 + 42 96 32 G A 19448091 1852 155 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCAGGAACGAGGGTGCCC 19337127 19337297 19337281 19337282 19337282 downstr_intron 17 1.548387 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCAGGAACGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 247 462 0.999379 0.9952495 0.9973143 NA NA 0.8767903 1 NA NA 0.1225887 -0.00475047 NA 0.9383952 NA 0.0589191 NA FALSE NA 0 -0.982 NA NA NA MAU2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:19337282 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 intron_variant 0.144886 0.19078 0.01379 0.099367 0.6663285 0.0490032 0.9997178 TRUE 3.7323e-05 ENSE00001688034_017 ENSE00001688034 017 19 19447937 19448106 + 42 96 32 C T 19448096 1853 160 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAATGAGGGTGCCC 19337127 19337297 19337286 19337287 19337287 downstr_intron 22 1.709677 TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAATGAGGGTGCCC TTTTTTTTTCTTACATTCCCAAACGTGACTATTTCCTTTCAGAATTCCGTTGATGCAGCAAAGCCGCTGCTGCGGAAGGCGATCCAGATCTCACAGCAGACCCCATATTGGCACTGCCGCCTGCTCTTCCAGCTCGCTGTGAGTACCGCGGCCCGGGAACGAGGGTGCCC mutant NA NA NA NA NA 41 43 1 1 1 NA NA 0.8767903 1 NA NA 0.1232097 0 NA 0.9383952 NA 0.06160483 NA FALSE NA 0 -2.23 . intron_variant MODIFIER MAU2 HGNC 29140 ENST00000392313 4/18 1 NA ACG C,T 8.274e-06 19:19337287 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00001688034 intron_variant 0.431453 0.15746 0.01486 0.099367 0.6007317 0.0490032 0.9997178 TRUE 1.25357e-05 ENSE00001690003_000 ENSE00001690003 000 9 135527778 135527947 - 57 45 68 NA NA NA NA NA TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 NA NA NA NA NA NA TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT natural NA NA NA NA NA 884 181 0.9836525 0.9809786 0.9823155 NA NA 0.9836525 0.9809786 NA NA 0 0 NA 0.9823155 NA 0 NA FALSE NA NA NA NA NA NA DDX31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX31 NA NA NA ENSG00000125485 ENSE00001690003 NA NA NA NA NA NA NA 2.755757e-06 FALSE NA ENSE00001690003_002 ENSE00001690003 002 9 135527778 135527947 - 57 45 68 T C 135527790 3254 158 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCGCTAATGTCCCGT 132652390 132652560 132652402 132652403 132652403 downstr_intron 45 1.803571 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCGCTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 65 760 1 0.9953091 0.9976545 NA NA 0.9836525 0.9809786 NA NA 0.01634751 0.01433049 NA 0.9823155 NA 0.015339 NA FALSE NA 0 -0.682 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 7/19 1 NA GTG T,C 8.236e-06 9:132652403 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 intron_variant 0.24167 0.20308 0.07245 0.099367 0.5423038 0.0708573 2.755757e-06 FALSE 4.07106e-06 ENSE00001690003_003 ENSE00001690003 003 9 135527778 135527947 - 57 45 68 T C 135527810 3255 138 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAGGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652422 132652423 132652423 downstr_intron 25 1.446429 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAGGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 95 25 0.9946829 1 0.9973414 NA NA 0.9836525 0.9809786 NA NA 0.01103036 0.01902144 NA 0.9823155 NA 0.0150259 NA FALSE NA 0 -0.149 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 7/19 1 NA CTT T,C 8.236e-06 9:132652423 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 intron_variant -0.042134 0.15587 0.09604 0.099367 0.4555297 0.046323 2.755757e-06 FALSE 1.2187e-05 ENSE00001690003_004 ENSE00001690003 004 9 135527778 135527947 - 57 45 68 T A 135527813 3256 135 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGTCAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652425 132652426 132652426 downstr_intron 22 1.392857 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGTCAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 33 160 1 1 1 NA NA 0.9836525 0.9809786 NA NA 0.01634751 0.01902144 NA 0.9823155 NA 0.01768447 NA FALSE NA 0 -1.785 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 7/19 1 NA GTC C,A 8.236e-06 9:132652426 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 intron_variant 0.346088 0.2189 0.0298 0.099367 0.6978324 0.046323 2.755757e-06 FALSE 4.0621e-06 ENSE00001690003_005 ENSE00001690003 005 9 135527778 135527947 - 57 45 68 A G 135527818 3257 130 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTCTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652430 132652431 132652431 downstr_intron 17 1.303571 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTCTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 360 115 0.7828765 0.8 0.7914383 NA NA 0.9836525 0.9809786 NA NA -0.200776 -0.1809786 NA 0.9823155 NA -0.1908773 NA FALSE NA 0 0.314 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 7/19 rs555463511 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAA A,G 0.00014 9:132652431 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 intron_variant 0.164872 0.17767 0.10616 0.156188 0.3786262 0.046323 2.755757e-06 FALSE 0.000129983 ENSE00001690003_007 ENSE00001690003 007 9 135527778 135527947 - 57 45 68 C T 135527830 3259 118 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAACAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652442 132652443 132652443 downstr_intron 5 1.089286 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAACAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 428 195 0.001405005 0.08117077 0.04128789 NA NA 0.9836525 0.9809786 NA NA -0.9822475 -0.8998078 NA 0.9823155 NA -0.9410276 NA TRUE NA 0.999 5.553 . splice_region_variant&intron_variant LOW DDX31 HGNC 16715 ENST00000372159 7/19 1 NA GCT C,T 1.647e-05 9:132652443 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 splice_region_variant 2.248047 0.98976 0.99258 0.156188 0.9728673 0.972169 2.755757e-06 FALSE 8.12361e-06 ENSE00001690003_011 ENSE00001690003 011 9 135527778 135527947 - 57 45 68 T C 135527843 3263 105 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAGCGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652455 132652456 132652456 exon -9 0.8222222 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAGCGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 100 319 1 0.9904614 0.9952307 NA NA 0.9836525 0.9809786 NA NA 0.01634751 0.009482875 NA 0.9823155 NA 0.01291519 NA FALSE NA 1 6.73 . missense_variant MODERATE DDX31 HGNC 16715 ENST00000372159 7/20 1 deleterious(0) probably_damaging(1) NA GTT T,C 2.471e-05 9:132652456 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 missense_variant 5.377739 0.99063 0.99276 0.706548 0.9988081 0 2.755757e-06 FALSE 1.62493e-05 ENSE00001690003_012 ENSE00001690003 012 9 135527778 135527947 - 57 45 68 C T 135527849 3264 99 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCATGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652461 132652462 132652462 exon -15 0.6888889 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCATGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 245 54 0.9989878 1 0.9994939 NA NA 0.9836525 0.9809786 NA NA 0.01533529 0.01902144 NA 0.9823155 NA 0.01717836 NA FALSE NA 1 6.546 rs150127278 missense_variant MODERATE DDX31 HGNC 16715 ENST00000372159 7/20 rs150127278 1 deleterious(0) probably_damaging(0.999) NA T:0.0007 T:0 ACG C,T 4.942e-05 9:132652462 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 missense_variant 6.377423 0.99252 0.99271 0.706548 0.9986652 0 2.755757e-06 FALSE 0.000129998 ENSE00001690003_014 ENSE00001690003 014 9 135527778 135527947 - 57 45 68 C A 135527853 3266 95 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTTCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652465 132652466 132652466 exon -19 0.6 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTTCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 44 108 0.9554167 0.93484 0.9451284 NA NA 0.9836525 0.9809786 NA NA -0.02823576 -0.04613858 NA 0.9823155 NA -0.03718717 NA FALSE NA 0.002 -1.933 . synonymous_variant LOW DDX31 HGNC 16715 ENST00000372159 7/20 rs555032994 1 A:0.0016 A:0 A:0 NA A:0 A:0 A:0.0082 GCA C,A 0.0003212 9:132652466 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 synonymous_variant 0.908692 0.08604 0.05436 0.706548 0.5407244 0 2.755757e-06 FALSE 0.000255925 ENSE00001690003_019 ENSE00001690003 019 9 135527778 135527947 - 57 45 68 G A 135527879 3271 69 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGTGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652491 132652492 132652492 exon 1 0.02222222 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGTGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 31 33 1 0.9988384 0.9994192 NA NA 0.9836525 0.9809786 NA NA 0.01634751 0.0178598 NA 0.9823155 NA 0.01710365 NA FALSE NA 1 4.652 . missense_variant&splice_region_variant MODERATE DDX31 HGNC 16715 ENST00000372159 7/20 rs374539267 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0001 CGC G,A 1.647e-05 9:132652492 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 missense_variant 7.71666 0.99198 0.98623 0.706548 0.9994678 0 2.755757e-06 FALSE 1.21921e-05 ENSE00001690003_021 ENSE00001690003 021 9 135527778 135527947 - 57 45 68 A G 135527888 3273 60 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGCGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652500 132652501 132652501 upstr_intron -9 -0.1176471 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGCGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 1527 85 0.002169377 0.009833337 0.006001357 NA NA 0.9836525 0.9809786 NA NA -0.9814831 -0.9711452 NA 0.9823155 NA -0.9763142 NA TRUE NA 0.938 4.349 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 6/19 1 NA CAC A,G 8.236e-06 9:132652501 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 intron_variant 2.141235 0.87745 0.65149 0.099367 0.8413136 0.956884 2.755757e-06 FALSE 4.06448e-06 ENSE00001690003_022 ENSE00001690003 022 9 135527778 135527947 - 57 45 68 A G 135527918 3274 30 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTCTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652530 132652531 132652531 upstr_intron -39 -0.5588235 TGTCCTGTCCGTTTGGAGTCTGCCTTTGTCTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 813 34 0.9988671 0.9434297 0.9711484 NA NA 0.9836525 0.9809786 NA NA 0.01521465 -0.03754885 NA 0.9823155 NA -0.0111671 NA FALSE NA 0 0.483 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 6/19 1 NA AAA A,G 8.236e-06 9:132652531 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 intron_variant 0.328082 0.22008 0.04574 0.099367 0.5414178 0.0862078 2.755757e-06 FALSE 1.62872e-05 ENSE00001690003_023 ENSE00001690003 023 9 135527778 135527947 - 57 45 68 A G 135527921 3275 27 TGTCCTGTCCGTTTGGAGTCTGCCTTCGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 132652533 132652534 132652534 upstr_intron -42 -0.6029412 TGTCCTGTCCGTTTGGAGTCTGCCTTCGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT mutant NA NA NA NA NA 103 51 1 0.9083189 0.9541594 NA NA 0.9836525 0.9809786 NA NA 0.01634751 -0.07265968 NA 0.9823155 NA -0.02815608 NA FALSE NA 0 -3.321 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 6/19 1 NA CAA A,G 1.647e-05 9:132652534 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001690003 intron_variant -0.075318 0.08883 0.01178 0.099367 0.492133 0.0862078 2.755757e-06 FALSE 1.2224e-05 ENSE00001690003_BRK ENSE00001690003 BRK 9 135527778 135527947 - 57 45 68 A,G; T,T NA NA NA TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACTTCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGCCAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT 132652390 132652560 NA NA NA NA NA NA TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACTTCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGCCAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT TGTCCTGTCCGTTTGGAGTCTGCCTTTGTTTATCCTGCTCATGGCATTTTTTTTCTGTGTGTCAACAGCGCAGTGATGGCCCCTATGCCCTGGTGCTCGTGCCAACGAGAGAGGTAAGCAGGCTCCCTTTTGGGACAAGTTTTAAGCACATGCTTTCACTAATGTCCCGT control NA NA NA NA NA 42 170 0 0 0 NA NA 0.9836525 0.9809786 NA NA -0.9836525 -0.9809786 NA 0.9823155 NA -0.9823155 NA TRUE NA NA NA NA NA NA DDX31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX31 NA NA NA ENSG00000125485 ENSE00001690003 NA NA NA NA NA NA NA 2.755757e-06 FALSE NA ENSE00001690514_000 ENSE00001690514 000 10 133958563 133958732 + 48 84 38 NA NA NA NA NA GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 NA NA NA NA NA NA TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC natural NA NA NA NA NA 96 59 0.9628949 1 0.9814475 NA NA 0.9628949 1 NA NA 0 0 NA 0.9814475 NA 0 NA FALSE NA NA NA NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003605390 NA NA NA NA NA NA NA 0.05393183 FALSE NA ENSE00001690514_001 ENSE00001690514 001 10 133958563 133958732 + 48 84 38 T C 133958582 2895 20 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAGTTTTCTCTAAAAGCTGGGA 132145058 132145228 132145077 132145078 132145078 upstr_intron -29 -0.5833333 TCCCAGCTTTTAGAGAAAACTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 431 47 0.9976856 0.9179338 0.9578097 NA NA 0.9628949 1 NA NA 0.03479069 -0.08206622 NA 0.9814475 NA -0.02363776 NA FALSE NA 1 3.534 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 1/13 1 NA ATT T,C 8.253e-06 10:132145078 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 intron_variant 0.342722 0.9701 0.94013 0.055982 0.437955 0.170116 0.05393183 FALSE NA ENSE00001690514_003 ENSE00001690514 003 10 133958563 133958732 + 48 84 38 G A 133958588 2897 26 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATATATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145083 132145084 132145084 upstr_intron -23 -0.4583333 TCCCAGCTTTTAGAGAAAATTTGATATATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 105 280 1 1 1 NA NA 0.9628949 1 NA NA 0.03710509 0 NA 0.9814475 NA 0.01855255 NA FALSE NA 0.856 1.504 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132145084 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 intron_variant 0.318671 0.42403 0.29904 0.056701 0.7801607 0.0969417 0.05393183 FALSE 1.28572e-05 ENSE00001690514_004 ENSE00001690514 004 10 133958563 133958732 + 48 84 38 G T 133958588 2898 26 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATAAATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145083 132145084 132145084 upstr_intron -23 -0.4583333 TCCCAGCTTTTAGAGAAAATTTGATTTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 106 24 0.9985512 1 0.9992756 NA NA 0.9628949 1 NA NA 0.03565626 0 NA 0.9814475 NA 0.01782813 NA FALSE NA 0.856 1.504 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP3 NA NA NA ENSG00000188385 ENSE00003605390 intron_variant -0.018548 0.43681 0.35102 0.056701 0.7352433 0.0969417 0.05393183 FALSE 4.28574e-06 ENSE00001690514_007 ENSE00001690514 007 10 133958563 133958732 + 48 84 38 C A 133958592 2901 30 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAATATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145087 132145088 132145088 upstr_intron -19 -0.375 TCCCAGCTTTTAGAGAAAATTTGATGTATATTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 33 756 1 0.9968689 0.9984345 NA NA 0.9628949 1 NA NA 0.03710509 -0.003131055 NA 0.9814475 NA 0.01698702 NA FALSE NA 0 -0.148 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132145088 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 intron_variant -0.517111 0.17332 0.08468 0.056701 0.6212062 0.0969417 0.05393183 FALSE 2.11252e-05 ENSE00001690514_008 ENSE00001690514 008 10 133958563 133958732 + 48 84 38 C T 133958601 2902 39 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACAGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145096 132145097 132145097 upstr_intron -10 -0.1875 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCTGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 317 115 0.9653388 1 0.9826694 NA NA 0.9628949 1 NA NA 0.002443917 0 NA 0.9814475 NA 0.001221959 NA FALSE NA 0.008 -0.918 . intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 1/13 rs539746733 1 NA CCG C,T 9.074e-05 10:132145097 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 intron_variant 0.559898 0.33015 0.0238 0.056701 0.7255121 0.137874 0.05393183 FALSE 0.000103519 ENSE00001690514_011 ENSE00001690514 011 10 133958563 133958732 + 48 84 38 C T 133958614 2905 52 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACAGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145109 132145110 132145110 exon 4 0.04761905 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCTGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 54 69 0.9648757 0.9930946 0.9789851 NA NA 0.9628949 1 NA NA 0.001980771 -0.006905413 NA 0.9814475 NA -0.002462321 NA FALSE NA 1 4.3 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/14 rs373222736 1 NA T:0 T:0.0001 CCG C,T 3.299e-05 10:132145110 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 missense_variant 7.910971 0.99147 0.96168 0.580535 0.9994714 0 0.05393183 FALSE 2.46392e-05 ENSE00001690514_016 ENSE00001690514 016 10 133958563 133958732 + 48 84 38 G A 133958644 2910 82 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGTCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145139 132145140 132145140 exon 34 0.4047619 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGACACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 174 439 1 0.998865 0.9994325 NA NA 0.9628949 1 NA NA 0.03710509 -0.001134991 NA 0.9814475 NA 0.01798505 NA FALSE NA 0.68 2.211 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/14 rs375900771 1 NA A:0 A:0.0001 GGC G,A 5.777e-05 10:132145140 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 missense_variant 0.901482 0.26098 0.46096 0.646311 0.9871067 0 0.05393183 FALSE 8.59409e-05 ENSE00001690514_017 ENSE00001690514 017 10 133958563 133958732 + 48 84 38 C A 133958645 2911 83 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTTCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145140 132145141 132145141 exon 35 0.4166667 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGAACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 39 92 1 1 1 NA NA 0.9628949 1 NA NA 0.03710509 0 NA 0.9814475 NA 0.01855255 NA FALSE NA 0.669 3.041 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/14 rs370911193 1 NA A:0 A:0.0001 GCA C,A 5.777e-05 10:132145141 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 missense_variant 1.169935 0.26904 0.31007 0.646311 0.9516088 0 0.05393183 FALSE 8.59036e-05 ENSE00001690514_018 ENSE00001690514 018 10 133958563 133958732 + 48 84 38 C T 133958651 2912 89 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCACCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145146 132145147 132145147 exon 41 0.4880952 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGTGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 46 133 1 1 1 NA NA 0.9628949 1 NA NA 0.03710509 0 NA 0.9814475 NA 0.01855255 NA FALSE NA 0.753 3.436 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/14 rs374576124&COSM537913 1 NA T:0.0002 T:0 GCG C,T 5.779e-05 10:132145147 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 missense_variant 5.184786 0.96811 0.9005 0.580535 0.9983876 0 0.05393183 FALSE 0.00011059 ENSE00001690514_021 ENSE00001690514 021 10 133958563 133958732 + 48 84 38 C T 133958653 2915 91 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCACGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145148 132145149 132145149 exon -42 0.5119048 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGTGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 159 1030 0.8 1 0.9 NA NA 0.9628949 1 NA NA -0.1628949 0 NA 0.9814475 NA -0.08144745 NA FALSE NA 0.015 2.257 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/14 COSM1346845 1 NA GCG C,T 8.256e-06 10:132145149 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 missense_variant 5.726523 0.52368 0.17665 0.580535 0.998739 0 0.05393183 FALSE 2.04834e-05 ENSE00001690514_023 ENSE00001690514 023 10 133958563 133958732 + 48 84 38 A G 133958660 2917 98 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCCCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145155 132145156 132145156 exon -35 0.5952381 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGGGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 114 148 1 0.9636895 0.9818448 NA NA 0.9628949 1 NA NA 0.03710509 -0.0363105 NA 0.9814475 NA 0.0003972989 NA FALSE NA 1 4.482 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/14 1 NA GAG A,G 3.304e-05 10:132145156 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 missense_variant 4.649054 0.96202 0.92378 0.646311 0.998589 0 0.05393183 FALSE 2.05211e-05 ENSE00001690514_024 ENSE00001690514 024 10 133958563 133958732 + 48 84 38 C G 133958664 2918 102 GTGTGCCCCCACGCCCGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGCTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145159 132145160 132145160 exon -31 0.6428571 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGAGCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 494 1447 0.9970473 0.9959548 0.996501 NA NA 0.9628949 1 NA NA 0.03415236 -0.004045223 NA 0.9814475 NA 0.01505357 NA FALSE NA 1 1.089 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/14 1 NA ACC C,G 8.261e-06 10:132145160 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 missense_variant 4.906632 0.97819 0.9149 0.646311 0.997103 0 0.05393183 FALSE 8.21801e-06 ENSE00001690514_033 ENSE00001690514 033 10 133958563 133958732 + 48 84 38 C G 133958711 2927 149 GTGTGCCCCCACGCCCGTGCACATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145206 132145207 132145207 downstr_intron 17 1.459459 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATGTGCACGGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 505 511 0.9092711 0.9391362 0.9242037 NA NA 0.9628949 1 NA NA -0.05362377 -0.06086381 NA 0.9814475 NA -0.05724379 NA FALSE NA 0 1.743 rs193071667 intron_variant&non_coding_transcript_variant MODIFIER JAKMIP3 HGNC 23523 ENST00000477275 2/13 rs193071667 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TCT C,G 8.305e-06 10:132145207 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 intron_variant 0.002171 0.2168 0.0379 0.056701 0.458326 0.0436289 0.05393183 FALSE NA ENSE00001690514_036 ENSE00001690514 036 10 133958563 133958732 + 48 84 38 G T 133958717 2930 155 GTGTGCCCCCACGCCAGTGCAGATGGCTGCAGGCTCACCTGCCCCTGCTCCGCCAGGGCCTTCTCCAGGTCCTCTATCCGCGCCTGTGCCCTCTGCACTTCGGCTTGTAGCTGCTCACGGGTCTGTAGGACGGGAGGAAAGATACATCAAATTTTCTCTAAAAGCTGGGA 132145058 132145228 132145212 132145213 132145213 downstr_intron 23 1.621622 TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACTGGCGTGGGGGCACAC TCCCAGCTTTTAGAGAAAATTTGATGTATCTTTCCTCCCGTCCTACAGACCCGTGAGCAGCTACAAGCCGAAGTGCAGAGGGCACAGGCGCGGATAGAGGACCTGGAGAAGGCCCTGGCGGAGCAGGGGCAGGTGAGCCTGCAGCCATCTGCACGGGCGTGGGGGCACAC mutant NA NA NA NA NA 346 16 0.999881 1 0.9999405 NA NA 0.9628949 1 NA NA 0.03698609 0 NA 0.9814475 NA 0.01849305 NA FALSE NA 0 -0.479 NA NA NA JAKMIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:132145213 JAKMIP3 HGNC Symbol protein_coding 80138 ENSG00000188385 ENSE00003605390 intron_variant -0.161939 0.11376 0.01201 0.056701 0.7626187 0.0436289 0.05393183 FALSE 1.95387e-05 ENSE00001690853_000 ENSE00001690853 000 12 31237470 31237639 + 47 87 36 NA NA NA NA NA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA 31084535 31084705 NA NA NA NA NA NA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA natural 275 321 0.8480042 0.8465416 0.8472729 608 1164 0.7258596 0.8998779 0.8128688 0.8480042 0.8465416 0.7258596 0.8998779 0 0 0 0 0.8472729 0.8128688 0 0 0 FALSE FALSE NA NA NA NA NA DDX11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX11 NA NA NA ENSG00000013573 ENSE00003612190 NA NA NA NA NA NA NA NA NA NA ENSE00001690853_001 ENSE00001690853 001 12 31237470 31237639 + 47 87 36 T G 31237494 908 25 GGTTTTGGGCTTCCTTGGTGATTTGCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA 31084535 31084705 31084559 31084560 31084560 upstr_intron -23 -0.4680851 GGTTTTGGGCTTCCTTGGTGATTTGCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA mutant 11 25 0.85 0.85 0.85 755 1041 0.7971787 0.8335839 0.8153813 0.8480042 0.8465416 0.7258596 0.8998779 0.00199576 0.003458369 0.07131903 -0.06629407 0.8472729 0.8128688 0.002727064 0.002512481 0.0002145837 FALSE FALSE 0 0.209 . intron_variant MODIFIER DDX11 HGNC 2736 ENST00000544652 2/3 1 NA TTC T,G 8.257e-06 12:31084560 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003612190 intron_variant 0.291632 0.20516 0.05154 0.115753 0.6852373 0.0455939 NA NA 4.81084e-06 ENSE00001690853_006 ENSE00001690853 006 12 31237470 31237639 + 47 87 36 G C 31237520 913 51 GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGCAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA 31084535 31084705 31084585 31084586 31084586 exon 4 0.04597701 GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGCAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA mutant NA NA NA NA NA 255 27 1 1 1 0.8480042 0.8465416 0.7258596 0.8998779 NA NA 0.2741404 0.1001221 0.8472729 0.8128688 NA 0.1871312 NA FALSE NA 1 7.467 . intron_variant MODIFIER DDX11 HGNC 2736 ENST00000544652 2/3 rs567518266 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 GGA G,C 8.251e-06 12:31084586 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003612190 missense_variant 3.089483 0.9841 0.99072 0.67177 0.9971691 0 NA NA 1.37504e-05 ENSE00001690853_008 ENSE00001690853 008 12 31237470 31237639 + 47 87 36 G A 31237542 915 73 GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCAAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA 31084535 31084705 31084607 31084608 31084608 exon 26 0.2988506 GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCAAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA mutant 15 21 0.85 0.85 0.85 NA NA NA NA NA 0.8480042 0.8465416 0.7258596 0.8998779 0.00199576 0.003458369 NA NA 0.8472729 0.8128688 0.002727064 NA NA NA FALSE 1 3.737 rs149257160 intron_variant MODIFIER DDX11 HGNC 2736 ENST00000544652 2/3 rs149257160 1 A:0.0020 A:0.0008 A:0.0058 NA A:0 A:0.005 A:0 A:0.0016 A:0.0051 CGA G,A 0.002872 12:31084608 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003612190 missense_variant 4.21627 0.97257 0.89948 0.67177 0.9990668 0 NA NA 0.00358216 ENSE00001690853_011 ENSE00001690853 011 12 31237470 31237639 + 47 87 36 G A 31237599 918 130 GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCACCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA 31084535 31084705 31084664 31084665 31084665 exon -5 0.954023 GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCACCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA mutant NA NA NA NA NA 192 347 0.8216032 0.8 0.8108016 0.8480042 0.8465416 0.7258596 0.8998779 NA NA 0.09574358 -0.09987794 0.8472729 0.8128688 NA -0.002067177 NA FALSE NA 1 7.43 . intron_variant MODIFIER DDX11 HGNC 2736 ENST00000544652 2/3 rs367756364 1 NA A:0 A:0.0003 CGC G,A 3.304e-05 12:31084665 DDX11 HGNC Symbol protein_coding 30946 ENSG00000013573 ENSE00003612190 missense_variant 5.180978 0.97192 0.98465 0.67177 0.9977416 0 NA NA 4.39209e-05 ENSE00001690853_BRK ENSE00001690853 BRK 12 31237470 31237639 + 47 87 36 A,G; T,T NA NA NA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTTTGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGCCGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA 31084535 31084705 NA NA NA NA NA NA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTTTGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGCCGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA GGTTTTGGGCTTCCTTGGTGATTTTCCTTCATGTCTGCCTCCTGTAGGCGGAGCAGGCCAGGAGGAAGCAGCGAGAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTGGTGAGCCTCATTTCTTGGGGGGCAGGATTATGTCCA control NA NA NA NA NA 1546 30 0.002926478 0 0.001463239 0.8480042 0.8465416 0.7258596 0.8998779 NA NA -0.7229332 -0.8998779 0.8472729 0.8128688 NA -0.8114055 NA TRUE NA NA NA NA NA NA DDX11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX11 NA NA NA ENSG00000013573 ENSE00003612190 NA NA NA NA NA NA NA NA NA NA ENSE00001690966_000 ENSE00001690966 000 16 48124996 48125165 - 35 90 45 NA NA NA NA NA ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 NA NA NA NA NA NA AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT natural 16 22 0.997346 0.9981278 0.9977369 1604 1836 0.8068285 0.922461 0.8646448 0.997346 0.9981278 0.8068285 0.922461 0 0 0 0 0.9977369 0.8646448 0 0 0 FALSE FALSE NA NA NA NA NA ABCC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC12 NA NA NA ENSG00000140798 ENSE00003608468 NA NA NA NA NA NA NA 2.205352e-26 FALSE NA ENSE00001690966_003 ENSE00001690966 003 16 48124996 48125165 - 35 90 45 T G 48125015 1564 151 ACTTGTCCCTCCTCTCTGAGGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091103 48091104 48091104 downstr_intron 16 1.470588 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCCTCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 67 1749 1 0.9988163 0.9994081 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07635524 0.9977369 0.8646448 NA 0.1347634 NA FALSE NA 0 -3.033 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/27 1 NA ATG T,G 8.236e-06 16:48091104 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 intron_variant -0.240855 0.0908 0.00601 0.074388 0.2878357 0.0665926 2.205352e-26 FALSE 4.06775e-06 ENSE00001690966_005 ENSE00001690966 005 16 48124996 48125165 - 35 90 45 G A 48125032 1566 134 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCAAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091120 48091121 48091121 exon -2 0.9888889 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTTGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 144 992 0.9828574 0.9806572 0.9817573 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1760289 0.05819619 0.9977369 0.8646448 NA 0.1171125 NA FALSE NA 0 -2.642 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW ABCC12 HGNC 14640 ENST00000532494 23/28 rs200832541&COSM1378011 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 0.0001235 16:48091121 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant -0.341763 0.16564 0.01623 0 0.7284599 0 2.205352e-26 FALSE 8.94527e-05 ENSE00001690966_006 ENSE00001690966 006 16 48124996 48125165 - 35 90 45 C T 48125052 1567 114 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGTTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091140 48091141 48091141 exon -22 0.7666667 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAACTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 21 189 1 1 1 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07753896 0.9977369 0.8646448 NA 0.1353552 NA FALSE NA 0.998 0.729 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 1 NA GCT C,T 8.236e-06 16:48091141 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 synonymous_variant 0.648888 0.97569 0.7285 0 0.6891321 0 2.205352e-26 FALSE 4.06501e-06 ENSE00001690966_007 ENSE00001690966 007 16 48124996 48125165 - 35 90 45 G A 48125058 1568 108 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACAGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091146 48091147 48091147 exon -28 0.7 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCTGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 139 525 0.9140461 0.9929607 0.9535034 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1072176 0.07049964 0.9977369 0.8646448 NA 0.08885862 NA FALSE NA 0 -3.783 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 COSM1749616 1 NA CGG G,A 1.647e-05 16:48091147 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 synonymous_variant 0.829353 0.11386 0.01402 0 0.8450642 0 2.205352e-26 FALSE 1.21948e-05 ENSE00001690966_010 ENSE00001690966 010 16 48124996 48125165 - 35 90 45 T C 48125073 1571 93 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCCTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091161 48091162 48091162 exon -43 0.5333333 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAGGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 85 93 1 0.9686585 0.9843293 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.04619747 0.9977369 0.8646448 NA 0.1196845 NA FALSE NA 0.955 0.043 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 1 NA CTT T,C 8.236e-06 16:48091162 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 synonymous_variant -1.094795 0.93653 0.38258 0.559995 0.4469926 0 2.205352e-26 FALSE 4.06488e-06 ENSE00001690966_011 ENSE00001690966 011 16 48124996 48125165 - 35 90 45 T C 48125074 1572 92 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTCGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091162 48091163 48091163 exon -44 0.5222222 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCGAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 115 63 1 0.9974813 0.9987406 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07502025 0.9977369 0.8646448 NA 0.1340959 NA FALSE NA 1 5.46 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 1 NA TTG T,C 8.236e-06 16:48091163 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant 1.9534 0.98469 0.95329 0.559995 0.9664158 0 2.205352e-26 FALSE 4.06497e-06 ENSE00001690966_012 ENSE00001690966 012 16 48124996 48125165 - 35 90 45 G C 48125075 1573 91 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTCCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091163 48091164 48091164 exon -45 0.5111111 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGGAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 108 244 1 1 1 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07753896 0.9977369 0.8646448 NA 0.1353552 NA FALSE NA 1 6.053 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 1 NA TGC G,C 1.647e-05 16:48091164 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant -0.623553 0.98475 0.81037 0.559995 0.5017491 0 2.205352e-26 FALSE 8.13015e-06 ENSE00001690966_014 ENSE00001690966 014 16 48124996 48125165 - 35 90 45 G C 48125077 1575 89 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCCTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091165 48091166 48091166 exon 44 0.4888889 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGAGGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 155 379 0.9940084 0.9833654 0.9886869 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1871799 0.06090435 0.9977369 0.8646448 NA 0.1240421 NA FALSE NA 1 3.506 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 1 NA CGT G,C 2.471e-05 16:48091166 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant 4.85516 0.97977 0.93405 0.559995 0.9920902 0 2.205352e-26 FALSE 1.62599e-05 ENSE00001690966_016 ENSE00001690966 016 16 48124996 48125165 - 35 90 45 T A 48125078 1577 88 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGACTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091166 48091167 48091167 exon 43 0.4777778 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGTCGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 124 178 0.9678964 0.9685167 0.9682065 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1610679 0.04605563 0.9977369 0.8646448 NA 0.1035618 NA FALSE NA 1 2.54 NA NA NA ABCC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:48091167 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant 4.197724 0.98108 0.89414 0.559995 0.9941484 0 2.205352e-26 FALSE 4.06474e-06 ENSE00001690966_017 ENSE00001690966 017 16 48124996 48125165 - 35 90 45 C T 48125079 1578 87 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTTTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091167 48091168 48091168 exon 42 0.4666667 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAAACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 278 125 0.9776965 1 0.9888482 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.170868 0.07753896 0.9977369 0.8646448 NA 0.1242035 NA FALSE NA 1 2.051 rs143005226 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 1 NA TCT C,T 0.0002306 16:48091168 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 synonymous_variant 0.914902 0.9926 0.90954 0.559995 0.7418975 0 2.205352e-26 FALSE 0.000276412 ENSE00001690966_019 ENSE00001690966 019 16 48124996 48125165 - 35 90 45 C G 48125092 1580 74 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTGGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091180 48091181 48091181 exon 29 0.3222222 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCCAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 75 77 0.9767271 1 0.9883635 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1698986 0.07753896 0.9977369 0.8646448 NA 0.1237188 NA FALSE NA 0.992 2.708 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 rs200003763 1 NA TCG C,G 3.295e-05 16:48091181 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant 5.225175 0.98316 0.93274 0.559995 0.9922651 0 2.205352e-26 FALSE 6.91107e-05 ENSE00001690966_020 ENSE00001690966 020 16 48124996 48125165 - 35 90 45 A T 48125099 1581 67 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACTCACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091187 48091188 48091188 exon 22 0.2444444 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGAGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 107 33 1 0.9988384 0.9994192 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07637732 0.9977369 0.8646448 NA 0.1347744 NA FALSE NA 0.112 1.8 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 rs367826251 1 NA T:0 T:0.0001 CAC A,T 8.236e-06 16:48091188 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant 1.2087 0.99102 0.56197 0.559995 0.8885013 0 2.205352e-26 FALSE 8.13114e-06 ENSE00001690966_021 ENSE00001690966 021 16 48124996 48125165 - 35 90 45 A C 48125101 1582 65 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACCCTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091189 48091190 48091190 exon 20 0.2222222 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGGGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 395 307 0.9949176 0.9826566 0.9887871 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1880891 0.06019553 0.9977369 0.8646448 NA 0.1241423 NA FALSE NA 0.996 3.908 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 1 NA CAC A,C 3.295e-05 16:48091190 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant 1.888282 0.99112 0.94623 0.559995 0.9858239 0 2.205352e-26 FALSE 1.21974e-05 ENSE00001690966_023 ENSE00001690966 023 16 48124996 48125165 - 35 90 45 C T 48125113 1584 53 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTTCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091201 48091202 48091202 exon 8 0.08888889 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGAACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 28 24 1 1 1 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07753896 0.9977369 0.8646448 NA 0.1353552 NA FALSE NA 1 6.846 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 23/28 1 NA TCC C,T 8.236e-06 16:48091202 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 missense_variant 5.864717 0.98872 0.97462 0.559995 0.9973664 0 2.205352e-26 FALSE 4.06679e-06 ENSE00001690966_025 ENSE00001690966 025 16 48124996 48125165 - 35 90 45 G A 48125134 1586 32 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAACGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091222 48091223 48091223 upstr_intron -14 -0.2888889 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGTTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 129 43 1 1 1 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07753896 0.9977369 0.8646448 NA 0.1353552 NA FALSE NA 0.003 0.235 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 22/27 1 NA AGC G,A 8.237e-06 16:48091223 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 non_coding_transcript_exon_variant 0.084587 0.1357 0.00103 0.126639 0.6216888 0.0734694 2.205352e-26 FALSE NA ENSE00001690966_026 ENSE00001690966 026 16 48124996 48125165 - 35 90 45 C A 48125135 1587 31 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGAGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091223 48091224 48091224 upstr_intron -15 -0.3111111 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCTCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 304 21 1 1 1 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07753896 0.9977369 0.8646448 NA 0.1353552 NA FALSE NA 0 -0.543 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:48091224 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 non_coding_transcript_exon_variant 0.444267 0.27757 0.05784 0.126639 0.5398082 0.0734694 2.205352e-26 FALSE 5.70283e-05 ENSE00001690966_027 ENSE00001690966 027 16 48124996 48125165 - 35 90 45 C T 48125135 1588 31 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGTGAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091223 48091224 48091224 upstr_intron -15 -0.3111111 AGGAGGAAGGGGCTCTAACTGCGGCTGCTCACTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 97 46 1 0.9867295 0.9933648 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.06426847 0.9977369 0.8646448 NA 0.12872 NA FALSE NA 0 -0.543 NA NA NA ABCC12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC12 NA NA NA ENSG00000140798 ENSE00003608468 non_coding_transcript_exon_variant 0.284022 0.2367 0.0504 0.126639 0.6594318 0.0734694 2.205352e-26 FALSE 4.07345e-06 ENSE00001690966_028 ENSE00001690966 028 16 48124996 48125165 - 35 90 45 G C 48125136 1589 30 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCCAGCAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091224 48091225 48091225 upstr_intron -16 -0.3333333 AGGAGGAAGGGGCTCTAACTGCGGCTGCTGGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 548 18 0.9943593 0.9911105 0.9927349 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1875307 0.06864942 0.9977369 0.8646448 NA 0.1280901 NA FALSE NA 0 0.737 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 22/27 1 NA CGA G,C 8.237e-06 16:48091225 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 non_coding_transcript_exon_variant -0.232162 0.28342 0.01894 0.126639 0.4696307 0.0734694 2.205352e-26 FALSE 8.14518e-06 ENSE00001690966_029 ENSE00001690966 029 16 48124996 48125165 - 35 90 45 C A 48125139 1590 27 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGAAGCCGCAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091227 48091228 48091228 upstr_intron -19 -0.4 AGGAGGAAGGGGCTCTAACTGCGGCTTCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 887 590 0.9757439 0.9936529 0.9846984 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1689154 0.07119184 0.9977369 0.8646448 NA 0.1200536 NA FALSE NA 0 -0.441 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 22/27 1 NA GCA C,A 2.471e-05 16:48091228 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 non_coding_transcript_exon_variant 0.560241 0.24922 0.03197 0.126639 0.6733622 0.0734694 2.205352e-26 FALSE 1.62912e-05 ENSE00001690966_030 ENSE00001690966 030 16 48124996 48125165 - 35 90 45 G A 48125144 1591 22 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCACAGTTAGAGCCCCTTCCTCCT 48091084 48091254 48091232 48091233 48091233 upstr_intron -24 -0.5111111 AGGAGGAAGGGGCTCTAACTGTGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 213 2234 1 0.9994873 0.9997436 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.07702626 0.9977369 0.8646448 NA 0.1350989 NA FALSE NA 0 -1.797 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 22/27 1 NA CGC G,A 1.647e-05 16:48091233 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 non_coding_transcript_exon_variant 0.318672 0.08831 0.00107 0.126639 0.8606491 0.0734694 2.205352e-26 FALSE 8.15042e-06 ENSE00001690966_032 ENSE00001690966 032 16 48124996 48125165 - 35 90 45 G C 48125147 1593 19 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCACTTAGAGCCCCTTCCTCCT 48091084 48091254 48091235 48091236 48091236 upstr_intron -27 -0.5777778 AGGAGGAAGGGGCTCTAAGTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 227 150 0.976735 1 0.9883675 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1699065 0.07753896 0.9977369 0.8646448 NA 0.1237227 NA FALSE NA 0.168 0.67 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 22/27 1 NA AGT G,C 8.236e-06 16:48091236 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 non_coding_transcript_exon_variant 0.172049 0.21249 0.15751 0.126639 0.5607484 0.0734694 2.205352e-26 FALSE 4.07505e-06 ENSE00001690966_033 ENSE00001690966 033 16 48124996 48125165 - 35 90 45 C G 48125154 1594 12 ACTTGTCCCTCCTCTCTGATGCACTAATTTCTTACCGAAATGTATTCCCTGAGCAGCTCCACGGAGGTGAATTTGGCTTGCGTCTCTGTTCCCGTTCGCACACACACTTGGAGCAGTCCGCTCAGCTGTTGAAAAGGAGCGAGCAGCCGCAGTTAGAGGCCCTTCCTCCT 48091084 48091254 48091242 48091243 48091243 upstr_intron -34 -0.7333333 AGGAGGAAGGGCCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT AGGAGGAAGGGGCTCTAACTGCGGCTGCTCGCTCCTTTTCAACAGCTGAGCGGACTGCTCCAAGTGTGTGTGCGAACGGGAACAGAGACGCAAGCCAAATTCACCTCCGTGGAGCTGCTCAGGGAATACATTTCGGTAAGAAATTAGTGCATCAGAGAGGAGGGACAAGT mutant NA NA NA NA NA 147 354 1 0.9903357 0.9951679 0.997346 0.9981278 0.8068285 0.922461 NA NA 0.1931715 0.06787467 0.9977369 0.8646448 NA 0.1305231 NA FALSE NA 0 -0.754 . intron_variant&NMD_transcript_variant MODIFIER ABCC12 HGNC 14640 ENST00000532494 22/27 1 NA GCC C,G 8.236e-06 16:48091243 ABCC12 HGNC Symbol protein_coding 73045 ENSG00000140798 ENSE00003608468 intron_variant 0.08794 0.14927 0.03632 0.126639 0.4753667 0.0927511 2.205352e-26 FALSE 4.0783e-06 ENSE00001691024_000 ENSE00001691024 000 8 27326795 27326964 - 57 45 68 NA NA NA NA NA CCACTCCACCCTGTCTTCTGGGGCTGGGCCCACCCCTTTAATTGCTCCTCTGTCTCTCTCTGGGCCAGGATGAGAAGAACCAAATGATGACCACCAACGTCTGGCTAAAACAGGTGAGGGCCCCCCTCCTCCAGTCCAGGTGGCGGGTACCGGGAATCCATGGACCCCAG 27469277 27469447 NA NA NA NA NA NA CCACTCCACCCTGTCTTCTGGGGCTGGGCCCACCCCTTTAATTGCTCCTCTGTCTCTCTCTGGGCCAGGATGAGAAGAACCAAATGATGACCACCAACGTCTGGCTAAAACAGGTGAGGGCCCCCCTCCTCCAGTCCAGGTGGCGGGTACCGGGAATCCATGGACCCCAG CCACTCCACCCTGTCTTCTGGGGCTGGGCCCACCCCTTTAATTGCTCCTCTGTCTCTCTCTGGGCCAGGATGAGAAGAACCAAATGATGACCACCAACGTCTGGCTAAAACAGGTGAGGGCCCCCCTCCTCCAGTCCAGGTGGCGGGTACCGGGAATCCATGGACCCCAG natural 590 230 0 0.01706635 0.008533176 501 94 0.6721278 0.8015366 0.7368322 0 0.01706635 0.6721278 0.8015366 0 0 0 0 0.008533176 0.7368322 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003576758 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001691372_000 ENSE00001691372 000 14 92905626 92905795 + 53 75 42 NA NA NA NA NA CAGCTGCAGCAGGGACCCTCACCGACCCTGCCTGTCTCCTCTCTCCTTTGCAGGCTCTGTATATGTTCTATGCCTTGGCCATAGTGTGCGATGACTTCTTTGTTCCGTCTCTAGAGAAGATCTGTGAGGTATGTGGAAGGGACTTGGGACACCTTGGTGAAGCCTTGAAG 92439281 92439451 NA NA NA NA NA NA CAGCTGCAGCAGGGACCCTCACCGACCCTGCCTGTCTCCTCTCTCCTTTGCAGGCTCTGTATATGTTCTATGCCTTGGCCATAGTGTGCGATGACTTCTTTGTTCCGTCTCTAGAGAAGATCTGTGAGGTATGTGGAAGGGACTTGGGACACCTTGGTGAAGCCTTGAAG CAGCTGCAGCAGGGACCCTCACCGACCCTGCCTGTCTCCTCTCTCCTTTGCAGGCTCTGTATATGTTCTATGCCTTGGCCATAGTGTGCGATGACTTCTTTGTTCCGTCTCTAGAGAAGATCTGTGAGGTATGTGGAAGGGACTTGGGACACCTTGGTGAAGCCTTGAAG natural 68 33 0.9245991 0.894859 0.9097291 772 167 0.9507332 0.95 0.9503666 0.9245991 0.894859 0.9507332 0.95 0 0 0 0 0.9097291 0.9503666 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003501117 NA NA NA NA NA NA NA NA NA NA ENSE00001692194_000 ENSE00001692194 000 1 86340279 86340448 - 53 54 63 NA NA NA NA NA CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 NA NA NA NA NA NA CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC natural NA NA NA NA NA 2944 2870 0.8827784 0.9359137 0.909346 NA NA 0.8827784 0.9359137 NA NA 0 0 NA 0.909346 NA 0 NA FALSE NA NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003509273 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001692194_001 ENSE00001692194 001 1 86340279 86340448 - 53 54 63 G T 86340289 2305 160 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTATTTCAGAGGC 85874595 85874765 85874605 85874606 85874606 downstr_intron 43 1.826923 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTATTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 629 1014 0.9958321 0.9929157 0.9943739 NA NA 0.8827784 0.9359137 NA NA 0.1130538 0.05700191 NA 0.909346 NA 0.08502783 NA FALSE NA 0 -0.206 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 35/57 1 NA AGA G,T 1.656e-05 1:85874606 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 intron_variant -0.451153 0.08707 0.00114 0.074636 0.7028322 0.0414318 1.063411e-25 FALSE 1.27845e-05 ENSE00001692194_004 ENSE00001692194 004 1 86340279 86340448 - 53 54 63 T C 86340301 2308 148 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACGCTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874617 85874618 85874618 downstr_intron 31 1.596154 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACGCTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 297 264 0.9905794 0.9769878 0.9837836 NA NA 0.8827784 0.9359137 NA NA 0.107801 0.04107404 NA 0.909346 NA 0.07443754 NA FALSE NA 0 -0.139 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 35/57 rs368280687 1 C:0.0008 C:0 C:0.0029 NA C:0 C:0 C:0.002 C:0 C:0.0005 GTG T,C 0.0006955 1:85874618 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 intron_variant 0.138226 0.21796 0.05928 0.074636 0.3871759 0.0414318 1.063411e-25 FALSE 0.000775904 ENSE00001692194_005 ENSE00001692194 005 1 86340279 86340448 - 53 54 63 G C 86340322 2309 127 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCGCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874638 85874639 85874639 downstr_intron 10 1.192308 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCGCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 334 153 1 1 1 NA NA 0.8827784 0.9359137 NA NA 0.1172216 0.06408626 NA 0.909346 NA 0.09065395 NA FALSE NA 0 -0.14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:85874639 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 intron_variant -0.358303 0.19738 0.00838 0.164513 0.5698779 0.0414318 1.063411e-25 FALSE 4.88739e-05 ENSE00001692194_006 ENSE00001692194 006 1 86340279 86340448 - 53 54 63 G T 86340322 2310 127 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCACCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874638 85874639 85874639 downstr_intron 10 1.192308 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCACCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 399 65 1 1 1 NA NA 0.8827784 0.9359137 NA NA 0.1172216 0.06408626 NA 0.909346 NA 0.09065395 NA FALSE NA 0 -0.14 NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003509273 intron_variant -0.209174 0.21012 0.03016 0.164513 0.5837026 0.0414318 1.063411e-25 FALSE 4.07282e-06 ENSE00001692194_007 ENSE00001692194 007 1 86340279 86340448 - 53 54 63 G A 86340324 2311 125 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGTCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874640 85874641 85874641 downstr_intron 8 1.153846 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGTCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 432 496 0.8658788 0.9960184 0.9309486 NA NA 0.8827784 0.9359137 NA NA -0.01689958 0.06010468 NA 0.909346 NA 0.02160255 NA FALSE NA 0 0.04 rs61785085 splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 35/57 rs61785085 1 A:0.0026 A:0 A:0.0043 NA A:0 A:0.0089 A:0.001 A:0.0027 A:0.0128 GGC G,A 0.008412 1:85874641 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 splice_region_variant 0.103711 0.18713 0.00904 0.164513 0.3273349 0.0999649 1.063411e-25 FALSE 0.00816888 ENSE00001692194_008 ENSE00001692194 008 1 86340279 86340448 - 53 54 63 C T 86340327 2312 122 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAATGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874643 85874644 85874644 downstr_intron 5 1.096154 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAATGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant 188 123 0 0.0106129 0.005306449 3551 550 0.07521018 0.001503113 0.03835664 NA NA 0.8827784 0.9359137 NA NA -0.8075682 -0.9344106 NA 0.909346 NA -0.8709894 NA TRUE NA 1 2.602 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 35/57 1 NA ACT C,T 7.451e-05 1:85874644 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 splice_region_variant 1.123882 0.97241 0.89398 0.164513 0.7339087 0.286648 1.063411e-25 FALSE 4.06987e-05 ENSE00001692194_009 ENSE00001692194 009 1 86340279 86340448 - 53 54 63 C T 86340333 2313 116 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACAGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874649 85874650 85874650 exon -2 0.9814815 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACAGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 3762 946 0.9806336 1 0.9903168 NA NA 0.8827784 0.9359137 NA NA 0.09785528 0.06408626 NA 0.909346 NA 0.08097077 NA FALSE NA 1 4.094 . missense_variant&splice_region_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 35/58 COSM3948695 1 possibly_damaging(0.62) NA CCG C,T 8.279e-06 1:85874650 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 missense_variant 5.093104 0.9852 0.97139 0.638212 0.9983285 0 1.063411e-25 FALSE 3.25383e-05 ENSE00001692194_010 ENSE00001692194 010 1 86340279 86340448 - 53 54 63 G C 86340334 2314 115 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTAGGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874650 85874651 85874651 exon -3 0.962963 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTAGGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 642 577 0.9375305 0.9694531 0.9534918 NA NA 0.8827784 0.9359137 NA NA 0.05475212 0.03353936 NA 0.909346 NA 0.04414574 NA FALSE NA 0.997 2.417 . missense_variant&splice_region_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 35/58 rs538248306&COSM1344625 1 possibly_damaging(0.816) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CGT G,C 3.311e-05 1:85874651 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 missense_variant 2.994456 0.758 0.85223 0.638212 0.9704622 0 1.063411e-25 FALSE 1.62722e-05 ENSE00001692194_011 ENSE00001692194 011 1 86340279 86340448 - 53 54 63 A T 86340337 2315 112 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTATACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874653 85874654 85874654 exon -6 0.9074074 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTATACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 725 845 0.9973012 0.9408951 0.9690981 NA NA 0.8827784 0.9359137 NA NA 0.1145228 0.004981367 NA 0.909346 NA 0.05975209 NA FALSE NA 0.019 0.038 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 35/58 1 benign(0.039) NA AAA A,T 8.278e-06 1:85874654 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 missense_variant -0.0772 0.17797 0.06498 0.638212 0.8156843 0 1.063411e-25 FALSE 8.13213e-06 ENSE00001692194_012 ENSE00001692194 012 1 86340279 86340448 - 53 54 63 C A 86340339 2316 110 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGTTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874655 85874656 85874656 exon -8 0.8703704 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGTTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 336 163 1 1 1 NA NA 0.8827784 0.9359137 NA NA 0.1172216 0.06408626 NA 0.909346 NA 0.09065395 NA FALSE NA 0.997 4.094 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 35/58 1 probably_damaging(1) NA ACC C,A 8.278e-06 1:85874656 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 missense_variant 5.098078 0.98568 0.97304 0.638212 0.9942282 0 1.063411e-25 FALSE 4.0663e-06 ENSE00001692194_013 ENSE00001692194 013 1 86340279 86340448 - 53 54 63 T C 86340341 2317 108 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCGGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874657 85874658 85874658 exon -10 0.8333333 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCGGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 292 112 1 0.9996595 0.9998297 NA NA 0.8827784 0.9359137 NA NA 0.1172216 0.06374574 NA 0.909346 NA 0.09048369 NA FALSE NA 1 0.81 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 35/58 rs200035755 1 NA C:0 C:0.0001 CTG T,C 8.278e-06 1:85874658 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 synonymous_variant 0.287896 0.97313 0.85161 0.638212 0.7735429 0 1.063411e-25 FALSE 8.13107e-06 ENSE00001692194_014 ENSE00001692194 014 1 86340279 86340448 - 53 54 63 G A 86340342 2318 107 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACTAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874658 85874659 85874659 exon -11 0.8148148 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACTAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 859 868 0.9956905 0.9735727 0.9846316 NA NA 0.8827784 0.9359137 NA NA 0.1129121 0.03765894 NA 0.909346 NA 0.07528553 NA FALSE NA 1 3.431 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 35/58 rs200448368 1 possibly_damaging(0.742) NA A:0 A:0.0004 TGG G,A 0.0003477 1:85874659 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 missense_variant 4.532068 0.98651 0.9514 0.638212 0.9625803 0 1.063411e-25 FALSE 0.000349667 ENSE00001692194_015 ENSE00001692194 015 1 86340279 86340448 - 53 54 63 A C 86340350 2319 99 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACGGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874666 85874667 85874667 exon -19 0.6666667 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACGGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 141 39 1 1 1 NA NA 0.8827784 0.9359137 NA NA 0.1172216 0.06408626 NA 0.909346 NA 0.09065395 NA FALSE NA 0.941 0.394 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 35/58 1 NA CAG A,C 0.0001159 1:85874667 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 synonymous_variant -0.145987 0.94287 0.66191 0.638212 0.754246 0 1.063411e-25 FALSE 9.3502e-05 ENSE00001692194_016 ENSE00001692194 016 1 86340279 86340448 - 53 54 63 C T 86340355 2320 94 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAAGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874671 85874672 85874672 exon -24 0.5740741 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAAGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 1921 208 0.9976328 0.9347311 0.9661819 NA NA 0.8827784 0.9359137 NA NA 0.1148544 -0.001182682 NA 0.909346 NA 0.05683587 NA FALSE NA 0.957 1.841 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 35/58 1 benign(0.377) NA CCT C,T 4.967e-05 1:85874672 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 missense_variant 2.947511 0.98232 0.89916 0.638212 0.9245064 0 1.063411e-25 FALSE 4.87833e-05 ENSE00001692194_018 ENSE00001692194 018 1 86340279 86340448 - 53 54 63 G A 86340365 2322 84 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGTAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874681 85874682 85874682 exon 21 0.3888889 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGTAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 112 834 0.9641582 0.9860851 0.9751216 NA NA 0.8827784 0.9359137 NA NA 0.08137984 0.05017132 NA 0.909346 NA 0.06577558 NA FALSE NA 0.674 0.219 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 35/58 1 NA TGC G,A 8.278e-06 1:85874682 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 synonymous_variant -0.009917 0.46367 0.34367 0.638212 0.4338364 0 1.063411e-25 FALSE 4.0659e-06 ENSE00001692194_019 ENSE00001692194 019 1 86340279 86340448 - 53 54 63 A C 86340368 2323 81 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCGGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874684 85874685 85874685 exon 18 0.3333333 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCGGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 977 641 1 0.9985018 0.9992509 NA NA 0.8827784 0.9359137 NA NA 0.1172216 0.06258803 NA 0.909346 NA 0.08990484 NA FALSE NA 0.004 -0.489 . synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 35/58 1 NA CAG A,C 8.278e-06 1:85874685 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 synonymous_variant -0.911625 0.70207 0.0242 0.638212 0.4099543 0 1.063411e-25 FALSE 1.21969e-05 ENSE00001692194_020 ENSE00001692194 020 1 86340279 86340448 - 53 54 63 G A 86340372 2324 77 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAATTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874688 85874689 85874689 exon 14 0.2592593 CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAATTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 954 69 0.9453004 0.9959996 0.97065 NA NA 0.8827784 0.9359137 NA NA 0.06252206 0.06008589 NA 0.909346 NA 0.06130397 NA FALSE NA 0.999 2.699 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 35/58 1 benign(0.017) NA AGT G,A 1.656e-05 1:85874689 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 missense_variant 1.078301 0.92906 0.83388 0.638212 0.5307109 0 1.063411e-25 FALSE 8.13147e-06 ENSE00001692194_023 ENSE00001692194 023 1 86340279 86340448 - 53 54 63 T C 86340433 2327 16 CCTCCATAATTAGCCGTGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 85874749 85874750 85874750 upstr_intron -48 -0.7460317 CCTCCATAATTAGCCGTGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC mutant NA NA NA NA NA 180 894 1 0.9917977 0.9958988 NA NA 0.8827784 0.9359137 NA NA 0.1172216 0.05588395 NA 0.909346 NA 0.0865528 NA FALSE NA 0 -0.538 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 34/57 1 NA ATG T,C 2.483e-05 1:85874750 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003509273 intron_variant 0.271061 0.20134 0.00585 0.06567 0.6419315 0.0697568 1.063411e-25 FALSE 2.10445e-05 ENSE00001692194_BRK ENSE00001692194 BRK 1 86340279 86340448 - 53 54 63 A,G; T,T NA NA NA CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCTTGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGCCGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC 85874595 85874765 NA NA NA NA NA NA CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCTTGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGCCGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC CCTCCATAATTAGCCATGCAGTCTTAGTAGAAAAGAGTTTAATCTTTCCCTTTGTTTCTTCAGGGAGATGTTGGAACTGCTGGCAGTGTTGGAGGAACTGGGGAACCAGGTTTACGGGTGAGTGCCCCCTTGAAACTCTTTTAATACACTAACCCACTTCTTTCAGAGGC control NA NA NA NA NA 1092 432 0 0.03597262 0.01798631 NA NA 0.8827784 0.9359137 NA NA -0.8827784 -0.8999411 NA 0.909346 NA -0.8913597 NA TRUE NA NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003509273 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001693011_000 ENSE00001693011 000 19 16338894 16339063 + 54 72 44 NA NA NA NA NA GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 NA NA NA NA NA NA GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT natural 49 92 0.9579648 0.9626557 0.9603102 1910 2300 0.9909051 0.9938639 0.9923845 0.9579648 0.9626557 0.9909051 0.9938639 0 0 0 0 0.9603102 0.9923845 0 0 0 FALSE FALSE NA NA NA NA NA AP1M1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP1M1 NA NA NA ENSG00000072958 ENSE00001693011 NA NA NA NA NA NA NA 0.8423497 FALSE NA ENSE00001693011_001 ENSE00001693011 001 19 16338894 16339063 + 54 72 44 A T 16338905 1377 12 GGGCCTTTGTCTAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228093 16228094 16228094 upstr_intron -43 -0.7777778 GGGCCTTTGTCTAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 1598 414 0.9774644 0.9988522 0.9881583 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.01344071 0.004988336 0.9603102 0.9923845 NA -0.004226185 NA FALSE NA 0 0.13 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 1 NA CAA A,T 1.647e-05 19:16228094 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.014713 0.14972 0.06867 0.256867 0.6099313 0.0476685 0.8423497 FALSE 2.46635e-05 ENSE00001693011_002 ENSE00001693011 002 19 16338894 16339063 + 54 72 44 A G 16338906 1378 13 GGGCCTTTGTCAGACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228094 16228095 16228095 upstr_intron -42 -0.7592593 GGGCCTTTGTCAGACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 255 1655 0.9918138 0.9936889 0.9927513 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.0009086994 -0.0001750412 0.9603102 0.9923845 NA 0.0003668291 NA FALSE NA 0 -0.829 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 1 NA AAA A,G 3.295e-05 19:16228095 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.062246 0.12111 0.04135 0.256867 0.5809772 0.0476685 0.8423497 FALSE 2.05322e-05 ENSE00001693011_003 ENSE00001693011 003 19 16338894 16339063 + 54 72 44 G A 16338911 1379 18 GGGCCTTTGTCAAACAAAGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228099 16228100 16228100 upstr_intron -37 -0.6666667 GGGCCTTTGTCAAACAAAGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 180 337 0.944021 0.9503891 0.9472051 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.04688405 -0.04347476 0.9603102 0.9923845 NA -0.04517941 NA FALSE NA 0 -1.871 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 1 NA AGG G,A 0.0001977 19:16228100 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.050059 0.13668 0.0222 0.256867 0.4572795 0.0476685 0.8423497 FALSE 0.000155567 ENSE00001693011_004 ENSE00001693011 004 19 16338894 16339063 + 54 72 44 G A 16338912 1380 19 GGGCCTTTGTCAAACAAGACCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228100 16228101 16228101 upstr_intron -36 -0.6481481 GGGCCTTTGTCAAACAAGACCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 720 566 0.9969307 0.972756 0.9848433 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.006025591 -0.02110794 0.9603102 0.9923845 NA -0.007541173 NA FALSE NA 0 -0.932 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 rs374685672 1 NA A:0 A:0.0001 GGC G,A 1.647e-05 19:16228101 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.200739 0.12559 0.00856 0.256867 0.5272125 0.0484198 0.8423497 FALSE 1.2276e-05 ENSE00001693011_005 ENSE00001693011 005 19 16338894 16339063 + 54 72 44 G A 16338919 1381 26 GGGCCTTTGTCAAACAAGGCCAGGTATGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228107 16228108 16228108 upstr_intron -29 -0.5185185 GGGCCTTTGTCAAACAAGGCCAGGTATGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 503 768 0.9904907 0.999103 0.9947969 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.0004143892 0.005239127 0.9603102 0.9923845 NA 0.002412369 NA FALSE NA 0 -0.554 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 1 NA TGT G,A 1.647e-05 19:16228108 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant -0.032403 0.14682 0.04416 0.256867 0.4415443 0.0484198 0.8423497 FALSE 1.2241e-05 ENSE00001693011_006 ENSE00001693011 006 19 16338894 16339063 + 54 72 44 T C 16338920 1382 27 GGGCCTTTGTCAAACAAGGCCAGGTGCGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228108 16228109 16228109 upstr_intron -28 -0.5 GGGCCTTTGTCAAACAAGGCCAGGTGCGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 60 961 0.9564194 0.9894438 0.9729316 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.03448568 -0.004420138 0.9603102 0.9923845 NA -0.01945291 NA FALSE NA 0 -0.22 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 1 NA GTG T,C 1.647e-05 19:16228109 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant -0.109754 0.12013 0.01561 0.256867 0.5184202 0.0484198 0.8423497 FALSE 4.07904e-06 ENSE00001693011_007 ENSE00001693011 007 19 16338894 16339063 + 54 72 44 G A 16338923 1383 30 GGGCCTTTGTCAAACAAGGCCAGGTGTGAACACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228111 16228112 16228112 upstr_intron -25 -0.4444444 GGGCCTTTGTCAAACAAGGCCAGGTGTGAACACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 67 19 1 1 1 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.009094904 0.006136102 0.9603102 0.9923845 NA 0.007615503 NA FALSE NA 0.002 0.563 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 1 NA AGC G,A 8.236e-06 19:16228112 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.221146 0.205 0.03824 0.256867 0.7374549 0.0484198 0.8423497 FALSE 4.07721e-06 ENSE00001693011_008 ENSE00001693011 008 19 16338894 16339063 + 54 72 44 G A 16338934 1384 41 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTACCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228122 16228123 16228123 upstr_intron -14 -0.2407407 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTACCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 562 540 0.9920522 0.922754 0.9574031 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.001147062 -0.07110992 0.9603102 0.9923845 NA -0.03498143 NA FALSE NA 0 -1.868 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 1 NA TGC G,A 8.236e-06 19:16228123 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant -0.373382 0.08226 0.01644 0.256867 0.5187143 0.0484198 0.8423497 FALSE 4.07007e-06 ENSE00001693011_009 ENSE00001693011 009 19 16338894 16339063 + 54 72 44 C A 16338936 1385 43 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCACTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228124 16228125 16228125 upstr_intron -12 -0.2037037 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCACTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 1263 406 0.998336 0.9680816 0.9832088 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.007430876 -0.02578225 0.9603102 0.9923845 NA -0.009175688 NA FALSE NA 0 0.058 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 7/11 1 NA CCC C,A 8.236e-06 19:16228125 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.644795 0.16461 0.10772 0.256867 0.7145948 0.0484198 0.8423497 FALSE 4.06888e-06 ENSE00001693011_011 ENSE00001693011 011 19 16338894 16339063 + 54 72 44 C G 16338937 1387 44 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCGTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228125 16228126 16228126 upstr_intron -11 -0.1851852 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCGTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 107 496 0.893851 0.939346 0.9165985 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.09705413 -0.05451794 0.9603102 0.9923845 NA -0.07578603 NA FALSE NA 0 -1.918 NA NA NA AP1M1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16228126 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.515941 0.20029 0.1217 0.256867 0.6993094 0.0841598 0.8423497 FALSE 8.13537e-06 ENSE00001693011_012 ENSE00001693011 012 19 16338894 16339063 + 54 72 44 C T 16338968 1388 75 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATTGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228156 16228157 16228157 exon 21 0.2916667 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATTGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 998 598 0.8634566 0.9263282 0.8948924 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.1274485 -0.06753566 0.9603102 0.9923845 NA -0.09749207 NA FALSE NA 0.873 -0.398 . synonymous_variant LOW AP1M1 HGNC 13667 ENST00000291439 8/12 rs556098749 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 5.766e-05 19:16228157 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 synonymous_variant 2.674987 0.91815 0.18891 0.706298 0.8317106 0 0.8423497 FALSE 4.06782e-05 ENSE00001693011_013 ENSE00001693011 013 19 16338894 16339063 + 54 72 44 G A 16338969 1389 76 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCAAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228157 16228158 16228158 exon 22 0.3055556 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCAAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 3108 771 0.9931369 0.9905834 0.9918602 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.002231822 -0.00328047 0.9603102 0.9923845 NA -0.0005243237 NA FALSE NA 1 9.361 . missense_variant MODERATE AP1M1 HGNC 13667 ENST00000291439 8/12 rs376335032 1 deleterious(0.01) possibly_damaging(0.798) NA A:0 A:0.0001 CGA G,A 2.471e-05 19:16228158 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 missense_variant 7.546651 0.9903 0.99134 0.706298 0.999197 0 0.8423497 FALSE 1.22082e-05 ENSE00001693011_016 ENSE00001693011 016 19 16338894 16339063 + 54 72 44 C T 16338980 1392 87 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATTGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228168 16228169 16228169 exon 33 0.4583333 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATTGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 35 202 0.9836393 0.9673028 0.975471 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.007265793 -0.02656112 0.9603102 0.9923845 NA -0.01691346 NA FALSE NA 0.018 -1.392 . synonymous_variant LOW AP1M1 HGNC 13667 ENST00000291439 8/12 1 NA TCG C,T 8.237e-06 19:16228169 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 synonymous_variant 2.645912 0.90089 0.03567 0.706298 0.8196896 0 0.8423497 FALSE 1.22099e-05 ENSE00001693011_017 ENSE00001693011 017 19 16338894 16339063 + 54 72 44 G A 16338981 1393 88 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCAAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228169 16228170 16228170 exon 34 0.4722222 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCAAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 726 145 0.9959947 0.9504521 0.9732234 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.005089574 -0.04341183 0.9603102 0.9923845 NA -0.01916113 NA FALSE NA 1 9.361 . missense_variant MODERATE AP1M1 HGNC 13667 ENST00000291439 8/12 1 tolerated(0.11) possibly_damaging(0.844) NA CGA G,A 2.471e-05 19:16228170 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 missense_variant 6.238156 0.99031 0.99134 0.706298 0.9982052 0 0.8423497 FALSE 2.03523e-05 ENSE00001693011_018 ENSE00001693011 018 19 16338894 16339063 + 54 72 44 C A 16338991 1394 98 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTACCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228179 16228180 16228180 exon -29 0.6111111 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTACCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 128 72 1 1 1 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.009094904 0.006136102 0.9603102 0.9923845 NA 0.007615503 NA FALSE NA 1 7.423 . missense_variant MODERATE AP1M1 HGNC 13667 ENST00000291439 8/12 1 deleterious(0) possibly_damaging(0.467) NA TCC C,A 8.237e-06 19:16228180 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 missense_variant 6.42806 0.99044 0.98837 0.706298 0.9952031 0 0.8423497 FALSE 4.06669e-06 ENSE00001693011_019 ENSE00001693011 019 19 16338894 16339063 + 54 72 44 C T 16338992 1395 99 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCTCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228180 16228181 16228181 exon -28 0.625 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCTCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 751 26 0.8031168 0.8 0.8015584 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.1877883 -0.1938639 0.9603102 0.9923845 NA -0.1908261 NA FALSE NA 0.417 -0.336 . synonymous_variant LOW AP1M1 HGNC 13667 ENST00000291439 8/12 1 NA CCC C,T 8.237e-06 19:16228181 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 synonymous_variant 1.992882 0.95938 0.62305 0.706298 0.7163258 0 0.8423497 FALSE 4.06633e-06 ENSE00001693011_020 ENSE00001693011 020 19 16338894 16339063 + 54 72 44 C T 16339004 1396 111 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATTGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228192 16228193 16228193 exon -16 0.7916667 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATTGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 157 2644 0.9045298 0.9460078 0.9252688 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.08637533 -0.04785606 0.9603102 0.9923845 NA -0.06711569 NA FALSE NA 0 -3.554 . synonymous_variant LOW AP1M1 HGNC 13667 ENST00000291439 8/12 1 NA TCG C,T 2.471e-05 19:16228193 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 synonymous_variant 2.368193 0.94862 0.08637 0.706298 0.8656219 0 0.8423497 FALSE 2.03399e-05 ENSE00001693011_021 ENSE00001693011 021 19 16338894 16339063 + 54 72 44 C T 16339010 1397 117 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTATATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228198 16228199 16228199 exon -10 0.875 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTATATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 514 231 0.9911683 0.9725796 0.9818739 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.0002632362 -0.02128434 0.9603102 0.9923845 NA -0.01051055 NA FALSE NA 1 1.923 . synonymous_variant LOW AP1M1 HGNC 13667 ENST00000291439 8/12 1 NA ACA C,T 8.237e-06 19:16228199 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 synonymous_variant 1.238643 0.98346 0.93547 0.706298 0.5930716 0 0.8423497 FALSE NA ENSE00001693011_023 ENSE00001693011 023 19 16338894 16339063 + 54 72 44 G T 16339022 1399 129 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTTCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228210 16228211 16228211 downstr_intron 3 1.069767 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTTCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 122 333 0.9572768 0.9634739 0.9603753 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.03362834 -0.03039002 0.9603102 0.9923845 NA -0.03200918 NA FALSE NA 0.292 0.527 . splice_region_variant&intron_variant LOW AP1M1 HGNC 13667 ENST00000291439 8/11 1 NA TGC G,T 8.237e-06 19:16228211 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 splice_region_variant 0.668403 0.19635 0.19175 0.069865 0.8300708 0.108211 0.8423497 FALSE NA ENSE00001693011_024 ENSE00001693011 024 19 16338894 16339063 + 54 72 44 C T 16339023 1400 130 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGTGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228211 16228212 16228212 downstr_intron 4 1.093023 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGTGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 55 147 0.8151426 0.8053888 0.8102657 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.1757624 -0.1884751 0.9603102 0.9923845 NA -0.1821188 NA FALSE NA 0.003 -3.304 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16228212 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 splice_region_variant 1.147446 0.15872 0.01844 0.069865 0.8583402 0.115024 0.8423497 FALSE 1.22354e-05 ENSE00001693011_025 ENSE00001693011 025 19 16338894 16339063 + 54 72 44 C G 16339023 1401 130 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGGGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228211 16228212 16228212 downstr_intron 4 1.093023 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGGGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 1826 350 0.9176622 0.9416487 0.9296555 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.07324289 -0.05221517 0.9603102 0.9923845 NA -0.06272903 NA FALSE NA 0.003 -3.304 NA NA NA AP1M1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP1M1 NA NA NA ENSG00000072958 ENSE00001693011 splice_region_variant 0.869243 0.15675 0.01888 0.069865 0.8102744 0.115024 0.8423497 FALSE 4.07847e-06 ENSE00001693011_028 ENSE00001693011 028 19 16338894 16339063 + 54 72 44 C T 16339030 1404 137 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCTGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228218 16228219 16228219 downstr_intron 11 1.255814 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCTGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 1373 724 0.9966247 0.9866091 0.9916169 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.005719593 -0.007254772 0.9603102 0.9923845 NA -0.0007675892 NA FALSE NA 0 -0.792 rs62116347 intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 8/11 rs62116347 1 T:0.0216 T:0.0053 T:0.0274 NA T:0 T:0.0736 T:0.0082 T:0.0132 T:0.0674 CCG C,T 0.045 19:16228219 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.034609 0.14899 0.02608 0.069865 0.468592 0.0560418 0.8423497 FALSE 0.0464125 ENSE00001693011_029 ENSE00001693011 029 19 16338894 16339063 + 54 72 44 G A 16339031 1405 138 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCAAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228219 16228220 16228220 downstr_intron 12 1.27907 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCAAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 362 179 0.961953 0.990547 0.97625 0.9579648 0.9626557 0.9909051 0.9938639 NA NA -0.02895205 -0.003316896 0.9603102 0.9923845 NA -0.01613447 NA FALSE NA 0 -0.002 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 8/11 1 NA CGA G,A 1.647e-05 19:16228220 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant -0.206805 0.14867 0.01886 0.069865 0.4881293 0.0494506 0.8423497 FALSE 1.2257e-05 ENSE00001693011_030 ENSE00001693011 030 19 16338894 16339063 + 54 72 44 C T 16339038 1406 145 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCATCCACTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228226 16228227 16228227 downstr_intron 19 1.44186 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCATCCACTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 1080 1307 0.9934721 0.9982087 0.9958404 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.002567046 0.004344832 0.9603102 0.9923845 NA 0.003455939 NA FALSE NA 0 -1.015 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 8/11 1 NA ACC C,T 4.118e-05 19:16228227 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.022621 0.12717 0.01532 0.069865 0.4365472 0.0646742 0.8423497 FALSE 1.63713e-05 ENSE00001693011_031 ENSE00001693011 031 19 16338894 16339063 + 54 72 44 C T 16339042 1407 149 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCATTGAGGGCCTTCTGGTGTCTCT 16228082 16228252 16228230 16228231 16228231 downstr_intron 23 1.534884 GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCATTGAGGGCCTTCTGGTGTCTCT GGGCCTTTGTCAAACAAGGCCAGGTGTGAGCACCCTCTTTGCCCTCCTTGGCAGGTCAAGCCTTTGATATGGATCGAGTCGGTGATCGAGAAGCACTCCCACAGCCGCATCGAGTACATGATCAAGGTGCGTGGGCCGAGGCCACCCACTGAGGGCCTTCTGGTGTCTCT mutant NA NA NA NA NA 1709 352 0.9971446 0.9971276 0.9971361 0.9579648 0.9626557 0.9909051 0.9938639 NA NA 0.00623953 0.003263677 0.9603102 0.9923845 NA 0.004751603 NA FALSE NA 0 0.402 . intron_variant MODIFIER AP1M1 HGNC 13667 ENST00000291439 8/11 1 NA ACT C,T 8.237e-06 19:16228231 AP1M1 HGNC Symbol protein_coding 48329 ENSG00000072958 ENSE00001693011 intron_variant 0.22153 0.11826 0.01063 0.069865 0.7278568 0.0646742 0.8423497 FALSE 4.09792e-06 ENSE00001693143_000 ENSE00001693143 000 14 105342548 105342717 + 45 90 35 NA NA NA NA NA TGTTAAAAGGCCAGGCCAGGGCCTCTCACACTTACCCCATTGAGGCTGCCCAGGTCCTTCACCCAGTGCTCGTCCCTGTCCTGGTCGTAGTTGATGACGGCATGCTGCTTGTCCACGCTGCGGGACTGGAGAGACACACAGCCAGCCCTCAGGTGCTCCAGGGGAGGAGG 104876210 104876380 NA NA NA NA NA NA CCTCCTCCCCTGGAGCACCTGAGGGCTGGCTGTGTGTCTCTCCAGTCCCGCAGCGTGGACAAGCAGCATGCCGTCATCAACTACGACCAGGACAGGGACGAGCACTGGGTGAAGGACCTGGGCAGCCTCAATGGGGTAAGTGTGAGAGGCCCTGGCCTGGCCTTTTAACA CCTCCTCCCCTGGAGCACCTGAGGGCTGGCTGTGTGTCTCTCCAGTCCCGCAGCGTGGACAAGCAGCATGCCGTCATCAACTACGACCAGGACAGGGACGAGCACTGGGTGAAGGACCTGGGCAGCCTCAATGGGGTAAGTGTGAGAGGCCCTGGCCTGGCCTTTTAACA natural NA NA NA NA NA 441 185 0.9999066 0.9789106 0.9894086 NA NA 0.9999066 0.9789106 NA NA 0 0 NA 0.9894086 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003576886 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001694264_000 ENSE00001694264 000 7 87168543 87168712 - 41 78 51 NA NA NA NA NA TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 NA NA NA NA NA NA TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC natural 46 20 0.9207319 0.9935302 0.9571311 1849 601 0.9577595 0.9947728 0.9762661 0.9207319 0.9935302 0.9577595 0.9947728 0 0 0 0 0.9571311 0.9762661 0 0 0 FALSE FALSE NA NA NA NA NA ABCB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCB1 NA NA NA ENSG00000085563 ENSE00003292673 NA NA NA NA NA NA NA 0.7344738 FALSE NA ENSE00001694264_001 ENSE00001694264 001 7 87168543 87168712 - 41 78 51 C T 87168553 1375 160 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATATGTAGAACTC 87539226 87539396 87539236 87539237 87539237 downstr_intron 31 1.775 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATATGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 607 145 0.9928007 1 0.9964003 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.03504122 0.005227209 0.9571311 0.9762661 NA 0.02013422 NA FALSE NA 0 -1.067 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs575743182 1 NA ACA C,T 8.237e-06 7:87539237 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 intron_variant 0.232255 0.19397 0.03375 0.074636 0.4677306 0.0455939 0.7344738 FALSE 4.0806e-06 ENSE00001694264_003 ENSE00001694264 003 7 87168543 87168712 - 41 78 51 G A 87168560 1377 153 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCTTGGGATGTGTAGAACTC 87539226 87539396 87539243 87539244 87539244 downstr_intron 24 1.6 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCTTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 147 48 1 1 1 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.04224054 0.005227209 0.9571311 0.9762661 NA 0.02373388 NA FALSE NA 0.007 1.075 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs373721513 1 NA A:0.0002 A:0 AGG G,A 8.237e-06 7:87539244 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 intron_variant 0.175735 0.19511 0.06254 0.074636 0.700619 0.0455939 0.7344738 FALSE NA ENSE00001694264_004 ENSE00001694264 004 7 87168543 87168712 - 41 78 51 C T 87168570 1378 143 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAAGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539253 87539254 87539254 downstr_intron 14 1.35 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAAGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 67 63 1 1 1 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.04224054 0.005227209 0.9571311 0.9762661 NA 0.02373388 NA FALSE NA 0 0.05 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs532901859 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCT C,T 8.237e-06 7:87539254 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 intron_variant 0.332498 0.72705 0.04787 0.074636 0.4941321 0.0448725 0.7344738 FALSE 8.14717e-06 ENSE00001694264_005 ENSE00001694264 005 7 87168543 87168712 - 41 78 51 C T 87168572 1379 141 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCAAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539255 87539256 87539256 downstr_intron 12 1.3 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCAAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 2791 379 0.9298664 1 0.9649332 0.9207319 0.9935302 0.9577595 0.9947728 NA NA -0.02789304 0.005227209 0.9571311 0.9762661 NA -0.01133292 NA FALSE NA 0 -0.24 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 1 NA TCG C,T 1.647e-05 7:87539256 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 intron_variant -0.009478 0.31436 0.03107 0.074636 0.4828954 0.0448725 0.7344738 FALSE 8.14677e-06 ENSE00001694264_007 ENSE00001694264 007 7 87168543 87168712 - 41 78 51 A T 87168574 1381 139 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTAACGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539257 87539258 87539258 downstr_intron 10 1.25 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTAACGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 788 869 0.98993 0.895067 0.9424985 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.0321705 -0.09970581 0.9571311 0.9762661 NA -0.03376766 NA FALSE NA 0 -0.977 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 1 NA GAT A,T 1.647e-05 7:87539258 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 intron_variant -0.091945 0.26321 0.03566 0.074636 0.399616 0.0448725 0.7344738 FALSE 8.14392e-06 ENSE00001694264_008 ENSE00001694264 008 7 87168543 87168712 - 41 78 51 T G 87168575 1382 138 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTCTCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539258 87539259 87539259 downstr_intron 9 1.225 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTCTCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 693 1604 0.9826804 0.9999014 0.9912909 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.02492097 0.005128598 0.9571311 0.9762661 NA 0.01502478 NA FALSE NA 0 -0.087 rs2235064 upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs2235064 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 ATA T,G 7.413e-05 7:87539259 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 intron_variant 0.001785 0.31429 0.05982 0.074636 0.3301765 0.052078 0.7344738 FALSE 5.70074e-05 ENSE00001694264_009 ENSE00001694264 009 7 87168543 87168712 - 41 78 51 A T 87168576 1383 137 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCAATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539259 87539260 87539260 downstr_intron 8 1.2 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCAATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 534 807 0.9859301 0.9996692 0.9927997 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.02817068 0.004896417 0.9571311 0.9762661 NA 0.01653355 NA FALSE NA 0 0.613 rs187910292 upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs187910292 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TAG A,T 1.647e-05 7:87539260 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 splice_region_variant -0.406928 0.37095 0.13535 0.074636 0.3711423 0.052078 0.7344738 FALSE 8.14299e-06 ENSE00001694264_010 ENSE00001694264 010 7 87168543 87168712 - 41 78 51 A G 87168580 1384 133 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTACGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539263 87539264 87539264 downstr_intron 4 1.1 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTACGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 825 1068 0.9963611 0.9970321 0.9966966 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.03860162 0.002259331 0.9571311 0.9762661 NA 0.02043047 NA FALSE NA 0.791 -0.058 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs201202639 1 NA CAT A,G 8.237e-06 7:87539264 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 splice_region_variant -0.045178 0.25311 0.03825 0.061011 0.4657382 0.33162 0.7344738 FALSE 1.62852e-05 ENSE00001694264_011 ENSE00001694264 011 7 87168543 87168712 - 41 78 51 T C 87168581 1385 132 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTGTGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539264 87539265 87539265 downstr_intron 3 1.075 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTGTGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 217 519 0.02469573 0.04114212 0.03291893 0.9207319 0.9935302 0.9577595 0.9947728 NA NA -0.9330637 -0.9536307 0.9571311 0.9762661 NA -0.9433472 NA TRUE NA 1 3.719 rs28381943 upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs28381943 1 C:0.0008 C:0.003 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 ATA T,C 7.413e-05 7:87539265 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 splice_region_variant 0.829871 0.97072 0.78861 0.061011 0.8205568 0.967283 0.7344738 FALSE 4.88571e-05 ENSE00001694264_013 ENSE00001694264 013 7 87168543 87168712 - 41 78 51 G T 87168592 1387 121 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGATCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539275 87539276 87539276 exon -9 0.8974359 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGATCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 1269 237 0.9964607 1 0.9982304 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.03870124 0.005227209 0.9571311 0.9762661 NA 0.02196423 NA FALSE NA 1 0.533 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 1 NA AGC G,T 8.237e-06 7:87539276 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 missense_variant 4.268141 0.98152 0.8839 0.638212 0.9937835 0 0.7344738 FALSE 4.07126e-06 ENSE00001694264_014 ENSE00001694264 014 7 87168543 87168712 - 41 78 51 G C 87168597 1388 116 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATGCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539280 87539281 87539281 exon -14 0.8333333 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATGCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 62 147 0.9743157 1 0.9871578 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.01655622 0.005227209 0.9571311 0.9762661 NA 0.01089171 NA FALSE NA 1 9.867 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs201418528 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 GGA G,C 3.295e-05 7:87539281 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 missense_variant 5.45953 0.99674 0.99628 0.638212 0.9955367 0 0.7344738 FALSE 2.0351e-05 ENSE00001694264_015 ENSE00001694264 015 7 87168543 87168712 - 41 78 51 A T 87168598 1389 115 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGAACCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539281 87539282 87539282 exon -15 0.8205128 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGAACCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 3240 284 0.9980761 0.9945898 0.9963329 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.04031664 -0.0001829932 0.9571311 0.9762661 NA 0.02006683 NA FALSE NA 0.95 1.484 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 1 NA GAT A,T 8.236e-06 7:87539282 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 missense_variant 2.72628 0.9804 0.7944 0.638212 0.9816951 0 0.7344738 FALSE 8.13968e-06 ENSE00001694264_016 ENSE00001694264 016 7 87168543 87168712 - 41 78 51 C T 87168600 1390 113 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCAATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539283 87539284 87539284 exon -17 0.7948718 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCAATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 1007 228 0.9630206 0.9993057 0.9811632 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.005261161 0.004532925 0.9571311 0.9762661 NA 0.004897043 NA FALSE NA 0.014 0.207 NA NA NA ABCB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:87539284 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 missense_variant 2.835309 0.26922 0.02156 0.638212 0.9860848 0 0.7344738 FALSE 1.62798e-05 ENSE00001694264_018 ENSE00001694264 018 7 87168543 87168712 - 41 78 51 G A 87168602 1392 111 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTTCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539285 87539286 87539286 exon -19 0.7692308 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTTCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 579 4573 1 0.984247 0.9921235 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.04224054 -0.01052578 0.9571311 0.9762661 NA 0.01585738 NA FALSE NA 0.99 0.874 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 1 NA GGA G,A 6.589e-05 7:87539286 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 synonymous_variant 1.320313 0.98027 0.77101 0.638212 0.7368181 0 0.7344738 FALSE 8.13994e-05 ENSE00001694264_019 ENSE00001694264 019 7 87168543 87168712 - 41 78 51 A G 87168609 1393 104 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACACGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539292 87539293 87539293 exon -26 0.6794872 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACACGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 188 908 1 0.9705439 0.985272 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.04224054 -0.02422887 0.9571311 0.9762661 NA 0.009005836 NA FALSE NA 0.024 0.384 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs201661522 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAT A,G 9.06e-05 7:87539293 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 missense_variant 2.187218 0.97074 0.38556 0.553676 0.9804132 0 0.7344738 FALSE 7.32362e-05 ENSE00001694264_020 ENSE00001694264 020 7 87168543 87168712 - 41 78 51 T C 87168610 1394 103 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACGTGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539293 87539294 87539294 exon -27 0.6666667 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACGTGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 1586 1491 0.9960402 0.9998939 0.997967 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.03828073 0.005121124 0.9571311 0.9762661 NA 0.02170092 NA FALSE NA 0.013 -0.215 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 1 NA ATG T,C 8.236e-06 7:87539294 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 missense_variant 0.993918 0.96843 0.3127 0.553676 0.9583737 0 0.7344738 FALSE 4.06861e-06 ENSE00001694264_021 ENSE00001694264 021 7 87168543 87168712 - 41 78 51 G T 87168622 1395 91 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGAGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539305 87539306 87539306 exon -39 0.5128205 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGAGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 263 146 0.9556589 0.9227711 0.939215 0.9207319 0.9935302 0.9577595 0.9947728 NA NA -0.002100518 -0.07200165 0.9571311 0.9762661 NA -0.03705109 NA FALSE NA 1 1.677 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs200903110&COSM602539 1 NA T:0 T:0.0001 CGC G,T 1.647e-05 7:87539306 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 synonymous_variant 1.678852 0.98038 0.71345 0.553676 0.678474 0 0.7344738 FALSE 1.22064e-05 ENSE00001694264_022 ENSE00001694264 022 7 87168543 87168712 - 41 78 51 G A 87168626 1396 87 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACTAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539309 87539310 87539310 exon 36 0.4615385 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACTAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 198 273 0.9648818 0.9880085 0.9764452 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.007122355 -0.0067643 0.9571311 0.9762661 NA 0.0001790277 NA FALSE NA 1 1.05 rs149959129 upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs149959129 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0023 A:0 TGG G,A 0.0001565 7:87539310 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 synonymous_variant 1.136026 0.97838 0.88465 0.553676 0.5930277 0 0.7344738 FALSE 0.000138329 ENSE00001694264_023 ENSE00001694264 023 7 87168543 87168712 - 41 78 51 C G 87168661 1397 52 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGCGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539344 87539345 87539345 exon 1 0.01282051 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGCGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 177 59 0.9789562 0.95 0.9644781 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.02119669 -0.04477279 0.9571311 0.9762661 NA -0.01178805 NA FALSE NA 1 7.815 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs199564535&COSM1488745 1 NA CCC C,G 1.647e-05 7:87539345 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 missense_variant 6.575925 0.99668 0.99431 0.638212 0.9993124 0 0.7344738 FALSE 2.03517e-05 ENSE00001694264_024 ENSE00001694264 024 7 87168543 87168712 - 41 78 51 T C 87168665 1398 48 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCGCAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539348 87539349 87539349 upstr_intron -4 -0.05882353 TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCGCAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 348 34 0.9994072 1 0.9997036 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.04164775 0.005227209 0.9571311 0.9762661 NA 0.02343748 NA FALSE NA 0.312 1.173 . upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs199577971 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GTG T,C 8.237e-06 7:87539349 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 splice_region_variant 0.112002 0.29964 0.22158 0.074636 0.4977765 0.0969162 0.7344738 FALSE 1.22124e-05 ENSE00001694264_026 ENSE00001694264 026 7 87168543 87168712 - 41 78 51 C G 87168696 1400 17 TTTTATTTAAATGGTGCCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC 87539226 87539396 87539379 87539380 87539380 upstr_intron -35 -0.6666667 TTTTATTTAAATGGTGCCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC TTTTATTTAAATGGTGGCTGGGTCCCTGACAAGGTATGTTCCTGCCCACAGGGTTTCACATTTGGCAAAGCTGGAGAGATCCTCACCAAGCGGCTCCGATACATGGTTTTCCGATCCATGCTCAGACAGGTATGTCTATCGAGGGCTGTGCCCTGGGATGTGTAGAACTC mutant NA NA NA NA NA 305 494 1 0.9989141 0.9994571 0.9207319 0.9935302 0.9577595 0.9947728 NA NA 0.04224054 0.00414133 0.9571311 0.9762661 NA 0.02319094 NA FALSE NA 0 -3.312 rs28381942 upstream_gene_variant MODIFIER ABCB1 HGNC 40 ENST00000496821 rs28381942 1 G:0.0012 G:0 G:0 NA G:0.006 G:0 G:0 GCC C,G 0.0003789 7:87539380 ABCB1 HGNC Symbol protein_coding 209690 ENSG00000085563 ENSE00003292673 intron_variant -0.117664 0.17084 0.01789 0.061011 0.3701188 0.0481801 0.7344738 FALSE 0.000412889 ENSE00001694303_000 ENSE00001694303 000 1 154794533 154794702 - 32 96 42 NA NA NA NA NA TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC 154822056 154822226 NA NA NA NA NA NA TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC natural 20 27 0.9856297 0.9546998 0.9701647 2059 818 0.9741747 0.9976872 0.985931 0.9856297 0.9546998 0.9741747 0.9976872 0 0 0 0 0.9701647 0.985931 0 0 0 FALSE FALSE NA NA NA NA NA KCNN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCNN3 NA NA NA ENSG00000143603 ENSE00003568203 NA NA NA NA NA NA NA 0.8649409 FALSE NA ENSE00001694303_001 ENSE00001694303 001 1 154794533 154794702 - 32 96 42 G C 154794544 3601 159 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCGCTTCATGCAGC 154822056 154822226 154822067 154822068 154822068 downstr_intron 21 1.677419 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCGCTTCATGCAGC TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC mutant NA NA NA NA NA 26 131 0.949195 0.999709 0.974452 0.9856297 0.9546998 0.9741747 0.9976872 NA NA -0.02497972 0.00202173 0.9701647 0.985931 NA -0.011479 NA FALSE NA 0 0.2 . intron_variant MODIFIER KCNN3 HGNC 6292 ENST00000358505 2/7 1 NA GGG G,C 0.0001071 1:154822068 KCNN3 HGNC Symbol protein_coding 172825 ENSG00000143603 ENSE00003568203 intron_variant 0.004722 0.18179 0.02796 0.295142 0.6486426 0.0518458 0.8649409 FALSE 0.000109865 ENSE00001694303_002 ENSE00001694303 002 1 154794533 154794702 - 32 96 42 G A 154794546 3602 157 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCATCCCTTCATGCAGC 154822056 154822226 154822069 154822070 154822070 downstr_intron 19 1.612903 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCATCCCTTCATGCAGC TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC mutant NA NA NA NA NA 169 227 1 1 1 0.9856297 0.9546998 0.9741747 0.9976872 NA NA 0.02582531 0.00231277 0.9701647 0.985931 NA 0.01406904 NA FALSE NA 0 -1.716 . intron_variant MODIFIER KCNN3 HGNC 6292 ENST00000358505 2/7 1 NA GGT G,A 8.236e-06 1:154822070 KCNN3 HGNC Symbol protein_coding 172825 ENSG00000143603 ENSE00003568203 intron_variant -0.041042 0.17866 0.01314 0.295142 0.4620958 0.0518458 0.8649409 FALSE 4.06765e-06 ENSE00001694303_006 ENSE00001694303 006 1 154794533 154794702 - 32 96 42 C T 154794575 3606 128 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACATGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC 154822056 154822226 154822098 154822099 154822099 exon -11 0.8958333 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACATGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC mutant NA NA NA NA NA 20 44 0.8658437 1 0.9329218 0.9856297 0.9546998 0.9741747 0.9976872 NA NA -0.108331 0.00231277 0.9701647 0.985931 NA -0.05300911 NA FALSE NA 0.998 6.817 NA NA NA KCNN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:154822099 KCNN3 HGNC Symbol protein_coding 172825 ENSG00000143603 ENSE00003568203 missense_variant 6.838312 0.99216 0.96361 0.706548 0.9990081 0 0.8649409 FALSE 1.2184e-05 ENSE00001694303_011 ENSE00001694303 011 1 154794533 154794702 - 32 96 42 G A 154794589 3611 114 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATTGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC 154822056 154822226 154822112 154822113 154822113 exon -25 0.75 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATTGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC mutant NA NA NA NA NA 125 143 1 1 1 0.9856297 0.9546998 0.9741747 0.9976872 NA NA 0.02582531 0.00231277 0.9701647 0.985931 NA 0.01406904 NA FALSE NA 1 0.564 . synonymous_variant LOW KCNN3 HGNC 6292 ENST00000358505 2/8 COSM3474748&COSM3474749 1 NA CGA G,A 1.647e-05 1:154822113 KCNN3 HGNC Symbol protein_coding 172825 ENSG00000143603 ENSE00003568203 synonymous_variant 2.118447 0.98134 0.79195 0.706548 0.8323258 0 0.8649409 FALSE 1.62447e-05 ENSE00001694303_015 ENSE00001694303 015 1 154794533 154794702 - 32 96 42 G A 154794647 3615 56 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTTGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC 154822056 154822226 154822170 154822171 154822171 exon 14 0.1458333 TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTTGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC mutant NA NA NA NA NA 588 29 0.9997197 1 0.9998599 0.9856297 0.9546998 0.9741747 0.9976872 NA NA 0.02554502 0.00231277 0.9701647 0.985931 NA 0.01392889 NA FALSE NA 1 8.602 . missense_variant MODERATE KCNN3 HGNC 6292 ENST00000358505 2/8 1 deleterious(0) probably_damaging(0.994) NA CGA G,A 8.236e-06 1:154822171 KCNN3 HGNC Symbol protein_coding 172825 ENSG00000143603 ENSE00003568203 missense_variant 7.55235 0.99434 0.98451 0.706548 0.9992332 0 0.8649409 FALSE 4.06101e-06 ENSE00001694303_BRK ENSE00001694303 BRK 1 154794533 154794702 - 32 96 42 A,G; T,T NA NA NA TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCTTGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGCCAGGTGCCCCCACCTCACCCCTTCATGCAGC 154822056 154822226 NA NA NA NA NA NA TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCTTGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGCCAGGTGCCCCCACCTCACCCCTTCATGCAGC TTCCCCGCACTCCCTAATTCTCTCTCTCCATTGTTCCTGCAGGACTCCATGTTTTCGTTGGCCCTGAAATGCCTTATCAGTCTGTCCACCATCATCCTTTTGGGCTTGATCATCGCCTACCACACACGTGAAGTCCAGGTAGGTGCCCCCACCTCACCCCTTCATGCAGC control 132 26 0 0 0 NA NA NA NA NA 0.9856297 0.9546998 0.9741747 0.9976872 -0.9856297 -0.9546998 NA NA 0.9701647 0.985931 -0.9701647 NA NA NA TRUE NA NA NA NA NA KCNN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCNN3 NA NA NA ENSG00000143603 ENSE00003568203 NA NA NA NA NA NA NA 0.8649409 FALSE NA ENSE00001695085_000 ENSE00001695085 000 3 167068176 167068345 - 32 96 42 NA NA NA NA NA ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 NA NA NA NA NA NA ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG natural NA NA NA NA NA 702 205 0.9857727 0.9977198 0.9917463 NA NA 0.9857727 0.9977198 NA NA 0 0 NA 0.9917463 NA 0 NA FALSE NA NA NA NA NA NA ZBBX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZBBX NA NA NA ENSG00000169064 ENSE00001695085 NA NA NA NA NA NA NA 4.331601e-11 FALSE NA ENSE00001695085_004 ENSE00001695085 004 3 167068176 167068345 - 32 96 42 T C 167068205 3482 141 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTGTGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350416 167350417 167350417 downstr_intron 3 1.096774 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTGTGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 1804 118 0.002002514 0 0.001001257 NA NA 0.9857727 0.9977198 NA NA -0.9837702 -0.9977198 NA 0.9917463 NA -0.990745 NA TRUE NA 0.992 1.697 . splice_region_variant&intron_variant LOW ZBBX HGNC 26245 ENST00000455345 8/20 1 NA ATA T,C 8.279e-06 3:167350417 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 splice_region_variant 0.198696 0.50322 0.28319 0.055872 0.5359394 0.731241 4.331601e-11 FALSE 8.3987e-06 ENSE00001695085_005 ENSE00001695085 005 3 167068176 167068345 - 32 96 42 C T 167068211 3483 135 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTACAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350422 167350423 167350423 exon -4 0.96875 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTACAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 1010 206 1 1 1 NA NA 0.9857727 0.9977198 NA NA 0.01422729 0.002280191 NA 0.9917463 NA 0.008253741 NA FALSE NA 0.943 -0.32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:167350423 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 synonymous_variant 0.469313 0.68356 0.11612 0.55562 0.480065 0 4.331601e-11 FALSE 8.33049e-06 ENSE00001695085_006 ENSE00001695085 006 3 167068176 167068345 - 32 96 42 C A 167068211 3484 135 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTTCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350422 167350423 167350423 exon -4 0.96875 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTTCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 744 146 1 1 1 NA NA 0.9857727 0.9977198 NA NA 0.01422729 0.002280191 NA 0.9917463 NA 0.008253741 NA FALSE NA 0.943 -0.32 NA NA NA ZBBX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZBBX NA NA NA ENSG00000169064 ENSE00001695085 missense_variant 3.82355 0.70057 0.19308 0.55562 0.9977874 0 4.331601e-11 FALSE NA ENSE00001695085_008 ENSE00001695085 008 3 167068176 167068345 - 32 96 42 T C 167068233 3486 113 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAGGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350444 167350445 167350445 exon -26 0.7395833 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAGGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 1251 12 0.9978084 1 0.9989042 NA NA 0.9857727 0.9977198 NA NA 0.01203568 0.002280191 NA 0.9917463 NA 0.007157934 NA FALSE NA 1 2.035 . missense_variant MODERATE ZBBX HGNC 26245 ENST00000455345 8/21 1 tolerated(0.07) benign(0.333) NA CTT T,C 8.278e-06 3:167350445 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 missense_variant 2.676025 0.84376 0.44963 0.55562 0.9988519 0 4.331601e-11 FALSE 4.10526e-06 ENSE00001695085_009 ENSE00001695085 009 3 167068176 167068345 - 32 96 42 C G 167068240 3487 106 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGCCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350451 167350452 167350452 exon -33 0.6666667 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGCCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 126 81 1 0.9201233 0.9600617 NA NA 0.9857727 0.9977198 NA NA 0.01422729 -0.07759648 NA 0.9917463 NA -0.03168459 NA FALSE NA 1 5.09 . missense_variant MODERATE ZBBX HGNC 26245 ENST00000455345 8/21 COSM1233100&COSM1233101 1 deleterious(0) probably_damaging(0.998) NA GCC C,G 8.279e-06 3:167350452 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 missense_variant 6.626304 0.86598 0.65798 0.55562 0.998072 0 4.331601e-11 FALSE 4.1033e-06 ENSE00001695085_010 ENSE00001695085 010 3 167068176 167068345 - 32 96 42 C T 167068242 3488 104 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGAGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350453 167350454 167350454 exon -35 0.6458333 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGAGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 78 49 1 1 1 NA NA 0.9857727 0.9977198 NA NA 0.01422729 0.002280191 NA 0.9917463 NA 0.008253741 NA FALSE NA 1 5.09 . missense_variant MODERATE ZBBX HGNC 26245 ENST00000455345 8/21 1 deleterious(0) probably_damaging(0.999) NA CCC C,T 8.279e-06 3:167350454 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 missense_variant 6.760113 0.86132 0.60578 0.55562 0.9975389 0 4.331601e-11 FALSE 4.10408e-06 ENSE00001695085_014 ENSE00001695085 014 3 167068176 167068345 - 32 96 42 T A 167068256 3492 90 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAATGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350467 167350468 167350468 exon 48 0.5 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAATGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 15 204 1 0.9771798 0.9885899 NA NA 0.9857727 0.9977198 NA NA 0.01422729 -0.02053999 NA 0.9917463 NA -0.003156351 NA FALSE NA 1 2.672 rs4619784 missense_variant MODERATE ZBBX HGNC 26245 ENST00000455345 8/21 rs4619784&COSM3682973&COSM3682974 1 deleterious(0) possibly_damaging(0.903) A:0.2552 A:0.0756 A:0.3343 NA A:0.1756 A:0.4076 A:0.3671 A:0.1309 A:0.4264 CTT T,A 0.372 3:167350468 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 missense_variant 6.402569 0.85588 0.54066 0.55562 0.9981061 0 4.331601e-11 FALSE 0.372757 ENSE00001695085_016 ENSE00001695085 016 3 167068176 167068345 - 32 96 42 A G 167068267 3494 79 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGACGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350478 167350479 167350479 exon 37 0.3854167 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGACGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 355 269 1 0.9886619 0.9943309 NA NA 0.9857727 0.9977198 NA NA 0.01422729 -0.009057935 NA 0.9917463 NA 0.002584678 NA FALSE NA 1 6.043 . missense_variant MODERATE ZBBX HGNC 26245 ENST00000455345 8/21 1 deleterious(0) probably_damaging(1) NA CAT A,G 8.28e-06 3:167350479 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 missense_variant 5.381698 0.85699 0.70089 0.55562 0.9956519 0 4.331601e-11 FALSE 4.11147e-06 ENSE00001695085_018 ENSE00001695085 018 3 167068176 167068345 - 32 96 42 A G 167068289 3496 57 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGCGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350500 167350501 167350501 exon 15 0.15625 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGCGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 207 469 1 1 1 NA NA 0.9857727 0.9977198 NA NA 0.01422729 0.002280191 NA 0.9917463 NA 0.008253741 NA FALSE NA 1 2.019 . synonymous_variant LOW ZBBX HGNC 26245 ENST00000455345 8/21 1 NA CAC A,G 1.656e-05 3:167350501 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 synonymous_variant -0.408773 0.85945 0.47737 0.55562 0.7621771 0 4.331601e-11 FALSE NA ENSE00001695085_019 ENSE00001695085 019 3 167068176 167068345 - 32 96 42 G A 167068297 3497 49 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCTTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350508 167350509 167350509 exon 7 0.07291667 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCTTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 450 162 1 1 1 NA NA 0.9857727 0.9977198 NA NA 0.01422729 0.002280191 NA 0.9917463 NA 0.008253741 NA FALSE NA 0.999 1.088 rs190817691 missense_variant MODERATE ZBBX HGNC 26245 ENST00000455345 8/21 rs190817691&COSM337842&COSM337843 1 tolerated(0.06) probably_damaging(0.996) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGG G,A 9.108e-05 3:167350509 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 missense_variant 3.099305 0.74986 0.29228 0.55562 0.9979936 0 4.331601e-11 FALSE 7.70812e-05 ENSE00001695085_021 ENSE00001695085 021 3 167068176 167068345 - 32 96 42 G C 167068298 3499 48 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGGCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350509 167350510 167350510 exon 6 0.0625 ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGGCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 30 65 1 1 1 NA NA 0.9857727 0.9977198 NA NA 0.01422729 0.002280191 NA 0.9917463 NA 0.008253741 NA FALSE NA 0.994 0.11 NA NA NA ZBBX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:167350510 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 missense_variant 4.6593 0.74379 0.41385 0.55562 0.9922892 0 4.331601e-11 FALSE 4.27606e-06 ENSE00001695085_027 ENSE00001695085 027 3 167068176 167068345 - 32 96 42 T A 167068320 3505 26 ATTTTATAAGATTGTATAATTTTTTTAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350531 167350532 167350532 upstr_intron -17 -0.3809524 ATTTTATAAGATTGTATAATTTTTTTAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 63 421 1 0.9856635 0.9928317 NA NA 0.9857727 0.9977198 NA NA 0.01422729 -0.01205634 NA 0.9917463 NA 0.001085475 NA FALSE NA 0 -0.065 . intron_variant MODIFIER ZBBX HGNC 26245 ENST00000455345 7/20 1 NA TTA T,A 5.8e-05 3:167350532 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 intron_variant 0.136963 0.0697 0.01852 0.088285 0.5329928 0.0864674 4.331601e-11 FALSE 6.29944e-05 ENSE00001695085_029 ENSE00001695085 029 3 167068176 167068345 - 32 96 42 A T 167068329 3507 17 ATTTTATAAGATTGTAAAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350540 167350541 167350541 upstr_intron -26 -0.5952381 ATTTTATAAGATTGTAAAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 74 424 1 0.9976316 0.9988158 NA NA 0.9857727 0.9977198 NA NA 0.01422729 -8.816177e-05 NA 0.9917463 NA 0.007069564 NA FALSE NA 0.001 1.427 . intron_variant MODIFIER ZBBX HGNC 26245 ENST00000455345 7/20 rs575617449 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TAT A,T 0.0001747 3:167350541 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 intron_variant -0.033759 0.08048 0.03592 0.055872 0.3221321 0.0499805 4.331601e-11 FALSE 0.000121822 ENSE00001695085_031 ENSE00001695085 031 3 167068176 167068345 - 32 96 42 A G 167068334 3509 12 ATTTTATAAGACTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG 167350387 167350557 167350545 167350546 167350546 upstr_intron -31 -0.7142857 ATTTTATAAGACTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG ATTTTATAAGATTGTATAATTTTTTAAAAAATATCTTTTTAGGTATGCCTTGAATGTGGAGAAGATTATTGTTCAGGATGCTTTGCTAAAGTTCACCAGAAAGGGGCACTAAAGCTCCACAGAACAACTCTTTTGCAGGTATGGCTTTCTAAAATGATTTACTTGTAGTG mutant NA NA NA NA NA 2008 120 0.9999237 0.9836438 0.9917837 NA NA 0.9857727 0.9977198 NA NA 0.01415097 -0.01407606 NA 0.9917463 NA 3.745611e-05 NA FALSE NA 0 -1.153 . intron_variant MODIFIER ZBBX HGNC 26245 ENST00000455345 7/20 rs374499738 1 NA G:0.0003 G:0 AAT A,G 5.834e-05 3:167350546 ZBBX HGNC Symbol protein_coding 141059 ENSG00000169064 ENSE00001695085 intron_variant 0.164766 0.07054 0.01818 0.055872 0.6610854 0.0499805 4.331601e-11 FALSE 3.47274e-05 ENSE00001695162_000 ENSE00001695162 000 2 27151067 27151236 + 56 69 45 NA NA NA NA NA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 NA NA NA NA NA NA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA natural NA NA NA NA NA 1048 2017 0.8177362 0.9952711 0.9065037 NA NA 0.8177362 0.9952711 NA NA 0 0 NA 0.9065037 NA 0 NA FALSE NA NA NA NA NA NA DPYSL5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DPYSL5 NA NA NA ENSG00000157851 ENSE00001695162 NA NA NA NA NA NA NA 0.9983321 TRUE NA ENSE00001695162_001 ENSE00001695162 001 2 27151067 27151236 + 56 69 45 G A 27151079 386 13 TTCTTACACGGTATCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928210 26928211 26928211 upstr_intron -44 -0.7678571 TTCTTACACGGTATCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 12 164 1 1 1 NA NA 0.8177362 0.9952711 NA NA 0.1822638 0.004728894 NA 0.9065037 NA 0.09349634 NA FALSE NA 0 -0.363 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 1 NA TGT G,A 8.236e-06 2:26928211 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 intron_variant -0.135445 0.08246 0.00059 0.06567 0.6296666 0.0469094 0.9983321 TRUE 4.084e-06 ENSE00001695162_003 ENSE00001695162 003 2 27151067 27151236 + 56 69 45 G A 27151131 388 65 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAAGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928262 26928263 26928263 exon 9 0.1304348 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAAGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 33 748 1 0.9997885 0.9998943 NA NA 0.8177362 0.9952711 NA NA 0.1822638 0.004517402 NA 0.9065037 NA 0.0933906 NA FALSE NA 1 1.512 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 1 NA AGG G,A 8.236e-06 2:26928263 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 synonymous_variant 1.489468 0.96859 0.84457 0.706298 0.6484766 0 0.9983321 TRUE 4.06121e-06 ENSE00001695162_004 ENSE00001695162 004 2 27151067 27151236 + 56 69 45 T C 27151145 389 79 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTCGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928276 26928277 26928277 exon 23 0.3333333 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTCGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 902 81 0.9949704 1 0.9974852 NA NA 0.8177362 0.9952711 NA NA 0.1772342 0.004728894 NA 0.9065037 NA 0.09098154 NA FALSE NA 1 7.503 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 1 NA TTG T,C 8.236e-06 2:26928277 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 missense_variant 3.919509 0.99249 0.99138 0.706298 0.9978714 0 0.9983321 TRUE 4.06091e-06 ENSE00001695162_006 ENSE00001695162 006 2 27151067 27151236 + 56 69 45 G A 27151156 391 90 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAAGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928287 26928288 26928288 exon 34 0.4927536 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAAGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 193 205 1 1 1 NA NA 0.8177362 0.9952711 NA NA 0.1822638 0.004728894 NA 0.9065037 NA 0.09349634 NA FALSE NA 1 9.229 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 COSM1019450 1 NA AGG G,A 8.236e-06 2:26928288 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 missense_variant 6.928656 0.99453 0.99448 0.706298 0.9989858 0 0.9983321 TRUE 4.06105e-06 ENSE00001695162_008 ENSE00001695162 008 2 27151067 27151236 + 56 69 45 A G 27151163 393 97 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGGAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928294 26928295 26928295 exon -29 0.5942029 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGGAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 129 612 1 1 1 NA NA 0.8177362 0.9952711 NA NA 0.1822638 0.004728894 NA 0.9065037 NA 0.09349634 NA FALSE NA 1 8.729 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 1 NA GAA A,G 8.236e-06 2:26928295 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 missense_variant 6.753647 0.99291 0.9947 0.706298 0.9992848 0 0.9983321 TRUE 8.12176e-06 ENSE00001695162_009 ENSE00001695162 009 2 27151067 27151236 + 56 69 45 C T 27151170 394 104 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATTGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928301 26928302 26928302 exon -22 0.6956522 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATTGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 82 106 0.9989919 1 0.999496 NA NA 0.8177362 0.9952711 NA NA 0.1812557 0.004728894 NA 0.9065037 NA 0.0929923 NA FALSE NA 0 -3.898 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 rs373323972 1 NA T:0.0002 T:0 TCG C,T 1.647e-05 2:26928302 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 synonymous_variant 2.516768 0.48005 0.02146 0.706298 0.7334379 0 0.9983321 TRUE 8.12222e-06 ENSE00001695162_011 ENSE00001695162 011 2 27151067 27151236 + 56 69 45 A G 27151174 396 108 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGGTCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928305 26928306 26928306 exon -18 0.7536232 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGGTCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 227 374 1 0.9319313 0.9659657 NA NA 0.8177362 0.9952711 NA NA 0.1822638 -0.0633398 NA 0.9065037 NA 0.05946199 NA FALSE NA 1 4.652 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 1 NA GAT A,G 1.647e-05 2:26928306 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 missense_variant 3.803819 0.99291 0.98172 0.706298 0.9983966 0 0.9983321 TRUE 2.84264e-05 ENSE00001695162_012 ENSE00001695162 012 2 27151067 27151236 + 56 69 45 G A 27151181 397 115 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCATCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928312 26928313 26928313 exon -11 0.8550725 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCATCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 362 911 0.999087 0.9990219 0.9990544 NA NA 0.8177362 0.9952711 NA NA 0.1813508 0.003750774 NA 0.9065037 NA 0.09255076 NA FALSE NA 0.999 6.183 rs147057600 downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 rs147057600 1 NA A:0.0002 A:0.0001 CGT G,A 5.765e-05 2:26928313 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 missense_variant 6.161079 0.99045 0.9821 0.706298 0.9993605 0 0.9983321 TRUE 4.87373e-05 ENSE00001695162_013 ENSE00001695162 013 2 27151067 27151236 + 56 69 45 C T 27151183 398 117 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTTCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928314 26928315 26928315 exon -9 0.884058 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTTCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 133 21 1 1 1 NA NA 0.8177362 0.9952711 NA NA 0.1822638 0.004728894 NA 0.9065037 NA 0.09349634 NA FALSE NA 1 7.298 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 1 NA TCC C,T 8.236e-06 2:26928315 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 missense_variant 6.84924 0.99439 0.99176 0.706298 0.999192 0 0.9983321 TRUE 4.06138e-06 ENSE00001695162_015 ENSE00001695162 015 2 27151067 27151236 + 56 69 45 T G 27151207 400 141 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCGGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 26928338 26928339 26928339 downstr_intron 16 1.363636 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCGGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 47 112 1 0.9614119 0.9807059 NA NA 0.8177362 0.9952711 NA NA 0.1822638 -0.03385925 NA 0.9065037 NA 0.07420227 NA FALSE NA 0.003 0.629 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 rs370287999 1 NA G:0 G:0.0001 CTG T,G 8.236e-06 2:26928339 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 intron_variant 0.222768 0.33388 0.13737 0 0.4394947 0.0969417 0.9983321 TRUE 4.06838e-06 ENSE00001695162_016 ENSE00001695162 016 2 27151067 27151236 + 56 69 45 G A 27151217 401 151 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTATCAGCGTCTCTCATGTAGA 26928198 26928368 26928348 26928349 26928349 downstr_intron 26 1.590909 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTATCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 1766 44 0.999419 0.9726361 0.9860276 NA NA 0.8177362 0.9952711 NA NA 0.1816828 -0.02263498 NA 0.9065037 NA 0.0795239 NA FALSE NA 0 -0.37 rs143668458 downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 rs143668458 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 TGT G,A 0.0001812 2:26928349 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 intron_variant 0.232787 0.21907 0.07555 0 0.6944986 0.046323 0.9983321 TRUE 0.000199979 ENSE00001695162_017 ENSE00001695162 017 2 27151067 27151236 + 56 69 45 C A 27151219 402 153 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTAAGCGTCTCTCATGTAGA 26928198 26928368 26928350 26928351 26928351 downstr_intron 28 1.636364 TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTAAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA mutant NA NA NA NA NA 1474 744 0.9980816 0.9999488 0.9990152 NA NA 0.8177362 0.9952711 NA NA 0.1803454 0.004677726 NA 0.9065037 NA 0.09251154 NA FALSE NA 0.001 0.389 . downstream_gene_variant MODIFIER DPYSL5 HGNC 20637 ENST00000450961 1 NA TCA C,A 8.236e-06 2:26928351 DPYSL5 HGNC Symbol protein_coding 102604 ENSG00000157851 ENSE00001695162 intron_variant 0.40803 0.31957 0.14215 0 0.6528409 0.046323 0.9983321 TRUE NA ENSE00001695162_BRK ENSE00001695162 BRK 2 27151067 27151236 + 56 69 45 A,G; T,T NA NA NA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCTTGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGCCGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA 26928198 26928368 NA NA NA NA NA NA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCTTGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGCCGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA TTCTTACACGGTGTCTCTGTGATTCTCTCCATTTTCTTTCTCTTGCTGTTATCCAGGGTGCTAAGGAGGCACTGGATTTGGGGATCACAGGCCCAGAAGGAATCGAGATCAGCCGTCCAGAGGAGGTGAGAAACACTTCCTGTAGCCTTTGTCAGCGTCTCTCATGTAGA control NA NA NA NA NA 27 600 0 0.009214879 0.004607439 NA NA 0.8177362 0.9952711 NA NA -0.8177362 -0.9860562 NA 0.9065037 NA -0.9018962 NA TRUE NA NA NA NA NA NA DPYSL5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DPYSL5 NA NA NA ENSG00000157851 ENSE00001695162 NA NA NA NA NA NA NA 0.9983321 TRUE NA ENSE00001695610_000 ENSE00001695610 000 20 34051338 34051507 + 62 57 51 NA NA NA NA NA TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT 35463512 35463682 NA NA NA NA NA NA TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT natural 63 222 0.8844809 0.820215 0.8523479 2644 1925 0.9102569 0.9664103 0.9383336 0.8844809 0.820215 0.9102569 0.9664103 0 0 0 0 0.8523479 0.9383336 0 0 0 FALSE FALSE NA NA NA NA NA CEP250 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP250 NA NA NA ENSG00000126001 ENSE00001695610 NA NA NA NA NA NA NA 8.251255e-17 FALSE NA ENSE00001695610_003 ENSE00001695610 003 20 34051338 34051507 + 62 57 51 A G 34051377 761 40 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCGGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT 35463512 35463682 35463551 35463552 35463552 upstr_intron -23 -0.3548387 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCGGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT mutant NA NA NA NA NA 54 232 1 1 1 0.8844809 0.820215 0.9102569 0.9664103 NA NA 0.08974306 0.03358968 0.8523479 0.9383336 NA 0.06166637 NA FALSE NA 0 -0.052 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000446710 4/6 1 NA CAG A,G 8.237e-06 20:35463552 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00001695610 intron_variant 0.875062 0.14656 0.14425 0.106106 0.7152328 0.101024 8.251255e-17 FALSE NA ENSE00001695610_005 ENSE00001695610 005 20 34051338 34051507 + 62 57 51 G A 34051384 763 47 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTATTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT 35463512 35463682 35463558 35463559 35463559 upstr_intron -16 -0.2419355 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTATTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT mutant NA NA NA NA NA 257 228 0.9690789 0.9187537 0.9439163 0.8844809 0.820215 0.9102569 0.9664103 NA NA 0.05882196 -0.04765667 0.8523479 0.9383336 NA 0.005582646 NA FALSE NA 0.033 -0.108 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000446710 4/6 1 NA TGT G,A 2.471e-05 20:35463559 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00001695610 intron_variant 0.218031 0.21464 0.23595 0.106106 0.6150576 0.101024 8.251255e-17 FALSE 2.9583e-05 ENSE00001695610_015 ENSE00001695610 015 20 34051338 34051507 + 62 57 51 G A 34051441 773 104 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGACTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT 35463512 35463682 35463615 35463616 35463616 exon -16 0.7368421 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGACTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT mutant NA NA NA NA NA 95 118 1 0.9376114 0.9688057 0.8844809 0.820215 0.9102569 0.9664103 NA NA 0.08974306 -0.02879892 0.8523479 0.9383336 NA 0.03047207 NA FALSE NA 0.016 -0.887 . synonymous_variant LOW CEP250 HGNC 1859 ENST00000446710 5/7 1 NA GGC G,A 3.296e-05 20:35463616 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00001695610 synonymous_variant 0.995946 0.18741 0.16416 0.489673 0.7780307 0 8.251255e-17 FALSE 2.07835e-05 ENSE00001695610_016 ENSE00001695610 016 20 34051338 34051507 + 62 57 51 C T 34051442 774 105 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGTTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT 35463512 35463682 35463616 35463617 35463617 exon -15 0.754386 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGTTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT mutant NA NA NA NA NA 45 113 1 0.851795 0.9258975 0.8844809 0.820215 0.9102569 0.9664103 NA NA 0.08974306 -0.1146153 0.8523479 0.9383336 NA -0.01243614 NA FALSE NA 0.816 1.09 . synonymous_variant LOW CEP250 HGNC 1859 ENST00000446710 5/7 1 NA GCT C,T 1.648e-05 20:35463617 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00001695610 synonymous_variant 1.791317 0.88973 0.80412 0.489673 0.7643421 0 8.251255e-17 FALSE 1.24825e-05 ENSE00001695610_017 ENSE00001695610 017 20 34051338 34051507 + 62 57 51 T C 34051443 775 106 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCCAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT 35463512 35463682 35463617 35463618 35463618 exon -14 0.7719298 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCCAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT mutant NA NA NA NA NA 318 51 0.9891647 1 0.9945823 0.8844809 0.820215 0.9102569 0.9664103 NA NA 0.07890774 0.03358968 0.8523479 0.9383336 NA 0.05624871 NA FALSE NA 1 5.027 . missense_variant MODERATE CEP250 HGNC 1859 ENST00000446710 5/7 1 deleterious(0) probably_damaging(1) NA CTA T,C 8.239e-06 20:35463618 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00001695610 missense_variant 6.279821 0.94328 0.97255 0.489673 0.9989313 0 8.251255e-17 FALSE NA ENSE00001695610_021 ENSE00001695610 021 20 34051338 34051507 + 62 57 51 C A 34051481 779 144 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCAACCCCTGGGTCCTCAGTGAATATACTT 35463512 35463682 35463655 35463656 35463656 downstr_intron 25 1.5 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCAACCCCTGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT mutant NA NA NA NA NA 438 170 0.986463 1 0.9932315 0.8844809 0.820215 0.9102569 0.9664103 NA NA 0.07620601 0.03358968 0.8523479 0.9383336 NA 0.05489784 NA FALSE NA 0.001 -0.712 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:35463656 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00001695610 intron_variant 0.601341 0.20365 0.27588 0.048788 0.6139599 0.137851 8.251255e-17 FALSE 2.25542e-05 ENSE00001695610_022 ENSE00001695610 022 20 34051338 34051507 + 62 57 51 C T 34051481 780 144 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCATCCCCTGGGTCCTCAGTGAATATACTT 35463512 35463682 35463655 35463656 35463656 downstr_intron 25 1.5 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCATCCCCTGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT mutant NA NA NA NA NA 498 454 0.9920655 0.9929079 0.9924867 0.8844809 0.820215 0.9102569 0.9664103 NA NA 0.08180859 0.02649759 0.8523479 0.9383336 NA 0.05415309 NA FALSE NA 0.001 -0.712 NA NA NA CEP250 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP250 NA NA NA ENSG00000126001 ENSE00001695610 intron_variant 0.57169 0.19934 0.12866 0.048788 0.6184809 0.137851 8.251255e-17 FALSE 9.02169e-06 ENSE00001695610_024 ENSE00001695610 024 20 34051338 34051507 + 62 57 51 T G 34051486 782 149 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCGGGGTCCTCAGTGAATATACTT 35463512 35463682 35463660 35463661 35463661 downstr_intron 30 1.6 TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCGGGGTCCTCAGTGAATATACTT TTTGCTTTGGGCTGTTTGTGCCAGCTGTGTTCATTGCCCAGGGCCTGTTCTTTTTGCTGCAGGTGCTGCAGTACCGAAGCTGGTGCCAAGAGCTGGAGAAGCGGCTAGAAGCCACTGGAGTGAGTGAGGCTGAGCTCTCTGCACCCCCTGGGTCCTCAGTGAATATACTT mutant NA NA NA NA NA 1034 283 0.9897651 1 0.9948826 0.8844809 0.820215 0.9102569 0.9664103 NA NA 0.07950817 0.03358968 0.8523479 0.9383336 NA 0.05654892 NA FALSE NA 0 -0.926 . intron_variant MODIFIER CEP250 HGNC 1859 ENST00000446710 5/6 1 NA CTG T,G 8.238e-06 20:35463661 CEP250 HGNC Symbol protein_coding 64116 ENSG00000126001 ENSE00001695610 intron_variant 0.068453 0.20492 0.1861 0.048788 0.4529027 0.137019 8.251255e-17 FALSE 4.55672e-06 ENSE00001696252_000 ENSE00001696252 000 3 135789267 135789436 + 53 75 42 NA NA NA NA NA AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 NA NA NA NA NA NA AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC natural 68 73 0.9897838 0.9923145 0.9910491 12270 14968 0.9531096 0.9233833 0.9382464 0.9897838 0.9923145 0.9531096 0.9233833 0 0 0 0 0.9910491 0.9382464 0 0 0 FALSE FALSE NA NA NA NA NA PPP2R3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP2R3A NA NA NA ENSG00000073711 ENSE00001696252 NA NA NA NA NA NA NA 0.9204879 TRUE NA ENSE00001696252_001 ENSE00001696252 001 3 135789267 135789436 + 53 75 42 T A 135789283 3125 17 AGGCATAATTTTTGTAAGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070440 136070441 136070441 upstr_intron -37 -0.6792453 AGGCATAATTTTTGTAAGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 2517 3879 0.9979772 0.9990029 0.99849 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04486762 0.0756196 0.9910491 0.9382464 NA 0.06024361 NA FALSE NA 0.006 1.673 . intron_variant MODIFIER PPP2R3A HGNC 9307 ENST00000490467 4/12 1 NA ATG T,A 1.647e-05 3:136070441 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 intron_variant 0.332133 0.16926 0.14196 0.053691 0.6795334 0.167998 0.9204879 TRUE 9.9003e-06 ENSE00001696252_002 ENSE00001696252 002 3 135789267 135789436 + 53 75 42 G A 135789284 3126 18 AGGCATAATTTTTGTATATTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070441 136070442 136070442 upstr_intron -36 -0.6603774 AGGCATAATTTTTGTATATTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 2594 884 0.9971584 0.9950736 0.996116 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04404884 0.07169034 0.9910491 0.9382464 NA 0.05786959 NA FALSE NA 0.003 0.135 . intron_variant MODIFIER PPP2R3A HGNC 9307 ENST00000490467 4/12 1 NA TGT G,A 8.237e-06 3:136070442 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 intron_variant 0.068873 0.15034 0.00865 0.053691 0.6199653 0.167998 0.9204879 TRUE 4.88577e-06 ENSE00001696252_003 ENSE00001696252 003 3 135789267 135789436 + 53 75 42 T C 135789287 3127 21 AGGCATAATTTTTGTATGTTCGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070444 136070445 136070445 upstr_intron -33 -0.6037736 AGGCATAATTTTTGTATGTTCGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 1453 784 0.9978326 0.9995963 0.9987144 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04472298 0.07621305 0.9910491 0.9382464 NA 0.06046801 NA FALSE NA 0.02 1.755 . intron_variant MODIFIER PPP2R3A HGNC 9307 ENST00000490467 4/12 1 NA TTG T,C 8.237e-06 3:136070445 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 intron_variant 0.382515 0.25967 0.08483 0.053691 0.8504724 0.167998 0.9204879 TRUE NA ENSE00001696252_004 ENSE00001696252 004 3 135789267 135789436 + 53 75 42 G A 135789288 3128 22 AGGCATAATTTTTGTATGTTTATTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070445 136070446 136070446 upstr_intron -32 -0.5849057 AGGCATAATTTTTGTATGTTTATTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 4735 1181 0.982647 0.9996998 0.9911734 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.02953745 0.07631649 0.9910491 0.9382464 NA 0.05292697 NA FALSE NA 0 -0.973 . intron_variant MODIFIER PPP2R3A HGNC 9307 ENST00000490467 4/12 rs557615656 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGT G,A 8.237e-05 3:136070446 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 intron_variant 0.675318 0.22133 0.00446 0.053691 0.7481122 0.167998 0.9204879 TRUE 7.18116e-05 ENSE00001696252_005 ENSE00001696252 005 3 135789267 135789436 + 53 75 42 T C 135789313 3129 47 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTCTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070470 136070471 136070471 upstr_intron -7 -0.1132075 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTCTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 965 812 0.9999573 0.997566 0.9987617 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04684778 0.07418275 0.9910491 0.9382464 NA 0.06051526 NA FALSE NA 1 1.724 . splice_region_variant&intron_variant LOW PPP2R3A HGNC 9307 ENST00000490467 4/12 rs371003604 1 NA C:0.0002 C:0 TTT T,C 8.237e-06 3:136070471 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 splice_region_variant 1.365978 0.95353 0.48982 0.078448 0.8548041 0.576908 0.9204879 TRUE NA ENSE00001696252_006 ENSE00001696252 006 3 135789267 135789436 + 53 75 42 C T 135789333 3130 67 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATATCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070490 136070491 136070491 exon 14 0.1866667 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATATCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 1106 656 0.9943209 0.9992925 0.9968067 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04121129 0.07590923 0.9910491 0.9382464 NA 0.05856026 NA FALSE NA 1 6.801 . missense_variant MODERATE PPP2R3A HGNC 9307 ENST00000490467 5/13 1 deleterious(0) probably_damaging(0.998) NA ACC C,T 8.237e-06 3:136070491 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 missense_variant 7.079028 0.98974 0.95158 0.706298 0.9988424 0 0.9204879 TRUE 4.1755e-06 ENSE00001696252_007 ENSE00001696252 007 3 135789267 135789436 + 53 75 42 C T 135789334 3131 68 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACTCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070491 136070492 136070492 exon 15 0.2 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACTCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 2846 2520 0.9983885 0.9976805 0.9980345 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04527896 0.07429716 0.9910491 0.9382464 NA 0.05978806 NA FALSE NA 0.453 0.17 . synonymous_variant LOW PPP2R3A HGNC 9307 ENST00000490467 5/13 1 NA CCC C,T 8.236e-06 3:136070492 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 synonymous_variant 1.844889 0.95942 0.44738 0.706298 0.8466818 0 0.9204879 TRUE 4.19322e-06 ENSE00001696252_008 ENSE00001696252 008 3 135789267 135789436 + 53 75 42 T C 135789340 3132 74 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCCGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070497 136070498 136070498 exon 21 0.28 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCCGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 785 2727 0.9999476 0.9225448 0.9612462 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04683799 -0.0008385222 0.9910491 0.9382464 NA 0.02299974 NA FALSE NA 0.998 0.239 . synonymous_variant LOW PPP2R3A HGNC 9307 ENST00000490467 5/13 1 NA CTG T,C 8.236e-06 3:136070498 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 synonymous_variant 0.615358 0.97208 0.69226 0.706298 0.7886097 0 0.9204879 TRUE 4.13966e-06 ENSE00001696252_011 ENSE00001696252 011 3 135789267 135789436 + 53 75 42 C T 135789353 3135 87 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCTTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070510 136070511 136070511 exon 34 0.4533333 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCTTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 1161 524 0.9961077 0.9747357 0.9854217 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04299816 0.05135245 0.9910491 0.9382464 NA 0.0471753 NA FALSE NA 0.982 0.491 . synonymous_variant LOW PPP2R3A HGNC 9307 ENST00000490467 5/13 1 NA CCT C,T 8.236e-06 3:136070511 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 synonymous_variant 1.913115 0.96476 0.6097 0.706298 0.8480475 0 0.9204879 TRUE 4.11601e-06 ENSE00001696252_012 ENSE00001696252 012 3 135789267 135789436 + 53 75 42 A G 135789358 3136 92 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAGGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070515 136070516 136070516 exon -37 0.52 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAGGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 2073 1883 0.9997615 0.9709434 0.9853525 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04665196 0.04756009 0.9910491 0.9382464 NA 0.04710603 NA FALSE NA 1 2.447 rs146691928 synonymous_variant LOW PPP2R3A HGNC 9307 ENST00000490467 5/13 rs146691928 1 G:0.0010 G:0.003 G:0 NA G:0 G:0.001 G:0 G:0.0016 G:0 AAG A,G 0.0002059 3:136070516 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 synonymous_variant 0.275059 0.9688 0.48424 0.706298 0.7671359 0 0.9204879 TRUE 0.000147823 ENSE00001696252_013 ENSE00001696252 013 3 135789267 135789436 + 53 75 42 A G 135789360 3137 94 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGGTGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070517 136070518 136070518 exon -35 0.5466667 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGGTGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 2458 732 0.998275 1 0.9991375 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04516542 0.07661671 0.9910491 0.9382464 NA 0.06089106 NA FALSE NA 1 8.122 . missense_variant MODERATE PPP2R3A HGNC 9307 ENST00000490467 5/13 1 tolerated(0.12) probably_damaging(0.998) NA GAT A,G 5.765e-05 3:136070518 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 missense_variant 5.330781 0.98749 0.96814 0.706298 0.9964407 0 0.9204879 TRUE 6.9782e-05 ENSE00001696252_014 ENSE00001696252 014 3 135789267 135789436 + 53 75 42 A G 135789367 3138 101 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCGGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070524 136070525 136070525 exon -28 0.64 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCGGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 747 1063 1 0.9951743 0.9975871 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04689043 0.07179098 0.9910491 0.9382464 NA 0.0593407 NA FALSE NA 0.939 0.526 . synonymous_variant LOW PPP2R3A HGNC 9307 ENST00000490467 5/13 1 NA CAG A,G 1.647e-05 3:136070525 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 synonymous_variant 0.6738 0.96154 0.63305 0.706298 0.7697327 0 0.9204879 TRUE 1.64043e-05 ENSE00001696252_015 ENSE00001696252 015 3 135789267 135789436 + 53 75 42 C G 135789376 3139 110 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCAGTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070533 136070534 136070534 exon -19 0.76 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCAGTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 1995 496 0.9989403 0.9680505 0.9834954 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04583074 0.0446672 0.9910491 0.9382464 NA 0.04524897 NA FALSE NA 1 1.88 . missense_variant MODERATE PPP2R3A HGNC 9307 ENST00000490467 5/13 1 tolerated(0.34) probably_damaging(0.997) NA ACT C,G 8.236e-06 3:136070534 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 missense_variant 4.525221 0.96945 0.7791 0.626454 0.984227 0 0.9204879 TRUE 4.1058e-06 ENSE00001696252_016 ENSE00001696252 016 3 135789267 135789436 + 53 75 42 C T 135789380 3140 114 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCTGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070537 136070538 136070538 exon -15 0.8133333 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCTGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 565 1100 1 0.9998562 0.9999281 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04689043 0.07647291 0.9910491 0.9382464 NA 0.06168167 NA FALSE NA 1 4.976 . missense_variant MODERATE PPP2R3A HGNC 9307 ENST00000490467 5/13 1 deleterious(0.03) probably_damaging(0.999) NA CCG C,T 8.236e-06 3:136070538 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 missense_variant 8.169159 0.98287 0.90503 0.626454 0.9992217 0 0.9204879 TRUE 4.11848e-06 ENSE00001696252_017 ENSE00001696252 017 3 135789267 135789436 + 53 75 42 G A 135789381 3141 115 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCACTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070538 136070539 136070539 exon -14 0.8266667 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCACTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 3764 32 0.9548401 0.9848766 0.9698584 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.00173051 0.06149333 0.9910491 0.9382464 NA 0.03161192 NA FALSE NA 1 8.583 . missense_variant MODERATE PPP2R3A HGNC 9307 ENST00000490467 5/13 1 deleterious(0.01) probably_damaging(0.998) NA CGC G,A 1.647e-05 3:136070539 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 missense_variant 7.707118 0.99011 0.97162 0.626454 0.9993775 0 0.9204879 TRUE 8.2526e-06 ENSE00001696252_018 ENSE00001696252 018 3 135789267 135789436 + 53 75 42 A G 135789386 3142 120 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACGTCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070543 136070544 136070544 exon -9 0.8933333 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACGTCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 3125 271 0.9981219 1 0.9990609 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04501231 0.07661671 0.9910491 0.9382464 NA 0.06081451 NA FALSE NA 1 8.122 . missense_variant MODERATE PPP2R3A HGNC 9307 ENST00000490467 5/13 1 tolerated(0.48) probably_damaging(0.978) NA CAT A,G 9.884e-05 3:136070544 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 missense_variant 4.297513 0.98749 0.96814 0.626454 0.9334061 0 0.9204879 TRUE 0.000119637 ENSE00001696252_019 ENSE00001696252 019 3 135789267 135789436 + 53 75 42 G A 135789394 3143 128 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACAGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 136070551 136070552 136070552 exon -1 1 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACAGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 2311 1140 0.9152017 0.9973689 0.9562853 0.9897838 0.9923145 0.9531096 0.9233833 NA NA -0.03790788 0.07398557 0.9910491 0.9382464 NA 0.01803885 NA FALSE NA 1 1.431 . splice_region_variant&synonymous_variant LOW PPP2R3A HGNC 9307 ENST00000490467 5/13 1 NA CGG G,A 1.647e-05 3:136070552 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 splice_region_variant 1.75359 0.97203 0.77509 0.626454 0.9074755 0 0.9204879 TRUE 1.67983e-05 ENSE00001696252_021 ENSE00001696252 021 3 135789267 135789436 + 53 75 42 T C 135789414 3145 148 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTCTCTTAATATAACTCCATAAGTC 136070424 136070594 136070571 136070572 136070572 downstr_intron 20 1.487805 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTCTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 3913 877 0.9907396 0.9994586 0.9950991 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.03763007 0.07607532 0.9910491 0.9382464 NA 0.05685269 NA FALSE NA 0 -0.821 . intron_variant MODIFIER PPP2R3A HGNC 9307 ENST00000490467 5/12 1 NA TTT T,C 8.236e-06 3:136070572 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 intron_variant 0.446316 0.1627 0.02336 0.065574 0.6100159 0.0807296 0.9204879 TRUE NA ENSE00001696252_022 ENSE00001696252 022 3 135789267 135789436 + 53 75 42 A G 135789420 3146 154 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAGTATAACTCCATAAGTC 136070424 136070594 136070577 136070578 136070578 downstr_intron 26 1.634146 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAGTATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 1464 4000 0.9961551 0.8253182 0.9107367 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.0430455 -0.09806505 0.9910491 0.9382464 NA -0.02750977 NA FALSE NA 0.86 0.107 . intron_variant MODIFIER PPP2R3A HGNC 9307 ENST00000490467 5/12 1 NA AAT A,G 8.237e-06 3:136070578 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 intron_variant 0.37307 0.27454 0.07304 0.065574 0.7404239 0.0807296 0.9204879 TRUE 4.44599e-06 ENSE00001696252_023 ENSE00001696252 023 3 135789267 135789436 + 53 75 42 C G 135789426 3147 160 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAAGTCCATAAGTC 136070424 136070594 136070583 136070584 136070584 downstr_intron 32 1.780488 AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAAGTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC mutant NA NA NA NA NA 1993 631 0.9947092 1 0.9973546 0.9897838 0.9923145 0.9531096 0.9233833 NA NA 0.04159961 0.07661671 0.9910491 0.9382464 NA 0.05910816 NA FALSE NA 0 0.144 . intron_variant MODIFIER PPP2R3A HGNC 9307 ENST00000490467 5/12 rs374543602 1 NA G:0 G:0.0003 ACT C,G 0.0002636 3:136070584 PPP2R3A HGNC Symbol protein_coding 182218 ENSG00000073711 ENSE00001696252 intron_variant 0.705321 0.1831 0.05779 0.065574 0.6264118 0.0807296 0.9204879 TRUE 0.000245311 ENSE00001696252_BRK ENSE00001696252 BRK 3 135789267 135789436 + 53 75 42 A,G; T,T NA NA NA AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCTTGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGCCAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC 136070424 136070594 NA NA NA NA NA NA AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCTTGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGCCAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC AGGCATAATTTTTGTATGTTTGTTAATTTAGTTTTGGTTTTGATCTTTTTCAGGATGTGGTGGATACCCACCCTGGTCTCACGTTCCTGAAAGATGCTCCAGAATTCCACTCCCGCTACATCACCACGGTAGGCTGAGTCATCTTTTTTCTTAATATAACTCCATAAGTC control NA NA NA NA NA 1549 1029 0.009071247 0.03821197 0.02364161 0.9897838 0.9923145 0.9531096 0.9233833 NA NA -0.9440383 -0.8851713 0.9910491 0.9382464 NA -0.9146048 NA TRUE NA NA NA NA NA NA PPP2R3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP2R3A NA NA NA ENSG00000073711 ENSE00001696252 NA NA NA NA NA NA NA 0.9204879 TRUE NA ENSE00001696977_000 ENSE00001696977 000 15 37386674 37386843 - 54 51 65 NA NA NA NA NA AACTAGGAGAGGGAAATGGTTTAATCAACACGGGGAGCGTTATTTCCTGCTTACCTTTTCTAACTCCAAAAGATGAAACCTTAGTACTTGTATTGCTTGTATCATCTGAAAGAAAAGTTCAGGGAATGGAGTTAGAGCTCTGTGACTCTGAGGTCCTGTCTTGGGGTTGG 37094472 37094642 NA NA NA NA NA NA CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT natural 117 91 0.9851652 0.9904638 0.9878145 5075 1557 0.9758539 0.9479046 0.9618792 0.9851652 0.9904638 0.9758539 0.9479046 0 0 0 0 0.9878145 0.9618792 0 0 0 FALSE FALSE NA NA NA NA NA MEIS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MEIS2 NA NA NA ENSG00000134138 ENSE00003759114 NA NA NA NA NA NA NA 0.994255 TRUE NA ENSE00001696977_001 ENSE00001696977 001 15 37386674 37386843 - 54 51 65 A C 37386696 327 148 AACTAGGAGAGGGAAATGGTTTCATCAACACGGGGAGCGTTATTTCCTGCTTACCTTTTCTAACTCCAAAAGATGAAACCTTAGTACTTGTATTGCTTGTATCATCTGAAAGAAAAGTTCAGGGAATGGAGTTAGAGCTCTGTGACTCTGAGGTCCTGTCTTGGGGTTGG 37094472 37094642 37094494 37094495 37094495 downstr_intron 32 1.603774 CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATGAAACCATTTCCCTCTCCTAGTT CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT mutant NA NA NA NA NA 96 643 1 0.960124 0.980062 0.9851652 0.9904638 0.9758539 0.9479046 NA NA 0.02414609 0.01221943 0.9878145 0.9618792 NA 0.01818276 NA FALSE NA 0 -0.578 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 5/12 1 NA TAA A,C 1.648e-05 15:37094495 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003759114 intron_variant -0.103177 0.19102 0.1442 0.166803 0.4011943 0.0641573 0.994255 TRUE 1.65659e-05 ENSE00001696977_002 ENSE00001696977 002 15 37386674 37386843 - 54 51 65 G A 37386707 328 137 AACTAGGAGAGGGAAATGGTTTAATCAACACGGAGAGCGTTATTTCCTGCTTACCTTTTCTAACTCCAAAAGATGAAACCTTAGTACTTGTATTGCTTGTATCATCTGAAAGAAAAGTTCAGGGAATGGAGTTAGAGCTCTGTGACTCTGAGGTCCTGTCTTGGGGTTGG 37094472 37094642 37094505 37094506 37094506 downstr_intron 21 1.396226 CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCTCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT mutant NA NA NA NA NA 294 602 0.9915531 1 0.9957765 0.9851652 0.9904638 0.9758539 0.9479046 NA NA 0.01569915 0.05209545 0.9878145 0.9618792 NA 0.0338973 NA FALSE NA 0.008 1.403 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 5/12 rs376315943 1 NA A:0 A:0.0001 GGG G,A 4.943e-05 15:37094506 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003759114 intron_variant 0.99602 0.25311 0.41247 0.166803 0.7875484 0.1627 0.994255 TRUE 3.70252e-05 ENSE00001696977_003 ENSE00001696977 003 15 37386674 37386843 - 54 51 65 G A 37386710 329 134 AACTAGGAGAGGGAAATGGTTTAATCAACACGGGGAACGTTATTTCCTGCTTACCTTTTCTAACTCCAAAAGATGAAACCTTAGTACTTGTATTGCTTGTATCATCTGAAAGAAAAGTTCAGGGAATGGAGTTAGAGCTCTGTGACTCTGAGGTCCTGTCTTGGGGTTGG 37094472 37094642 37094508 37094509 37094509 downstr_intron 18 1.339623 CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGTTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT mutant NA NA NA NA NA 38 209 1 0.9970323 0.9985162 0.9851652 0.9904638 0.9758539 0.9479046 NA NA 0.02414609 0.04912775 0.9878145 0.9618792 NA 0.03663692 NA FALSE NA 0 -0.266 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 5/12 1 NA AGC G,A 1.648e-05 15:37094509 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003759114 intron_variant 1.197287 0.28051 0.18794 0.166803 0.7892303 0.278738 0.994255 TRUE 1.23238e-05 ENSE00001696977_004 ENSE00001696977 004 15 37386674 37386843 - 54 51 65 A G 37386746 330 98 AACTAGGAGAGGGAAATGGTTTAATCAACACGGGGAGCGTTATTTCCTGCTTACCTTTTCTAACTCCAAAAGGTGAAACCTTAGTACTTGTATTGCTTGTATCATCTGAAAGAAAAGTTCAGGGAATGGAGTTAGAGCTCTGTGACTCTGAGGTCCTGTCTTGGGGTTGG 37094472 37094642 37094544 37094545 37094545 exon -19 0.6470588 CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCACCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT mutant NA NA NA NA NA 489 33 0.9965347 1 0.9982674 0.9851652 0.9904638 0.9758539 0.9479046 NA NA 0.0206808 0.05209545 0.9878145 0.9618792 NA 0.03638812 NA FALSE NA 0.997 0.626 rs137952617 synonymous_variant LOW MEIS2 HGNC 7001 ENST00000424352 5/13 rs137952617 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0002 GAT A,G 0.0002306 15:37094545 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003759114 synonymous_variant -0.356729 0.93403 0.7977 0.719381 0.7427151 0 0.994255 TRUE 0.000265942 ENSE00001696977_008 ENSE00001696977 008 15 37386674 37386843 - 54 51 65 T C 37386800 334 44 AACTAGGAGAGGGAAATGGTTTAATCAACACGGGGAGCGTTATTTCCTGCTTACCTTTTCTAACTCCAAAAGATGAAACCTTAGTACTTGTATTGCTTGTATCATCTGAAAGAAAAGTTCAGGGAACGGAGTTAGAGCTCTGTGACTCTGAGGTCCTGTCTTGGGGTTGG 37094472 37094642 37094598 37094599 37094599 upstr_intron -22 -0.3230769 CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCGTTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT mutant NA NA NA NA NA 1099 799 0.9959059 0.9984066 0.9971562 0.9851652 0.9904638 0.9758539 0.9479046 NA NA 0.02005202 0.050502 0.9878145 0.9618792 NA 0.03527701 NA FALSE NA 0.652 0.454 rs145446178 intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 4/12 rs145446178 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 C:0.0002 C:0.0028 ATG T,C 0.001566 15:37094599 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003759114 intron_variant 0.38835 0.27047 0.35304 0.166803 0.6659159 0.337808 0.994255 TRUE 0.00146747 ENSE00001696977_010 ENSE00001696977 010 15 37386674 37386843 - 54 51 65 G A 37386810 336 34 AACTAGGAGAGGGAAATGGTTTAATCAACACGGGGAGCGTTATTTCCTGCTTACCTTTTCTAACTCCAAAAGATGAAACCTTAGTACTTGTATTGCTTGTATCATCTGAAAGAAAAGTTCAGGGAATGGAGTTAGAACTCTGTGACTCTGAGGTCCTGTCTTGGGGTTGG 37094472 37094642 37094608 37094609 37094609 upstr_intron -32 -0.4769231 CCAACCCCAAGACAGGACCTCAGAGTCACAGAGTTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT mutant NA NA NA NA NA 20 26 1 1 1 0.9851652 0.9904638 0.9758539 0.9479046 NA NA 0.02414609 0.05209545 0.9878145 0.9618792 NA 0.03812077 NA FALSE NA 0.05 0.034 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 4/12 1 NA AGC G,A 8.242e-06 15:37094609 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003759114 intron_variant -0.160296 0.30502 0.48338 0.199473 0.327427 0.16886 0.994255 TRUE 4.26247e-06 ENSE00001696977_011 ENSE00001696977 011 15 37386674 37386843 - 54 51 65 T C 37386820 337 24 AACTAGGAGAGGGAAATGGTTTAATCAACACGGGGAGCGTTATTTCCTGCTTACCTTTTCTAACTCCAAAAGATGAAACCTTAGTACTTGTATTGCTTGTATCATCTGAAAGAAAAGTTCAGGGAATGGAGTTAGAGCTCTGTGACCCTGAGGTCCTGTCTTGGGGTTGG 37094472 37094642 37094618 37094619 37094619 upstr_intron -42 -0.6307692 CCAACCCCAAGACAGGACCTCAGGGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT CCAACCCCAAGACAGGACCTCAGAGTCACAGAGCTCTAACTCCATTCCCTGAACTTTTCTTTCAGATGATACAAGCAATACAAGTACTAAGGTTTCATCTTTTGGAGTTAGAAAAGGTAAGCAGGAAATAACGCTCCCCGTGTTGATTAAACCATTTCCCTCTCCTAGTT mutant 22 15 0.9617544 0.9519126 0.9568335 2808 135 0.9975034 1 0.9987517 0.9851652 0.9904638 0.9758539 0.9479046 -0.02341073 -0.03855127 0.02164945 0.05209545 0.9878145 0.9618792 -0.030981 0.03687245 0.06785344 FALSE FALSE 0.002 -0.326 . intron_variant MODIFIER MEIS2 HGNC 7001 ENST00000424352 4/12 1 NA CTC T,C 8.244e-06 15:37094619 MEIS2 HGNC Symbol protein_coding 212095 ENSG00000134138 ENSE00003759114 intron_variant -0.190659 0.21374 0.27378 0.166803 0.5058569 0.0501323 0.994255 TRUE 8.75151e-06 ENSE00001697052_000 ENSE00001697052 000 6 33146403 33146572 - 53 54 63 NA NA NA NA NA AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 NA NA NA NA NA NA AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG natural 20 17 0.9980007 0.9956369 0.9968188 1836 1871 0.9423184 0.9636678 0.9529931 0.9980007 0.9956369 0.9423184 0.9636678 0 0 0 0 0.9968188 0.9529931 0 0 0 FALSE FALSE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001697052 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001697052_001 ENSE00001697052 001 6 33146403 33146572 - 53 54 63 A G 33146426 903 147 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAACTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178648 33178649 33178649 downstr_intron 30 1.576923 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAACTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 65 1712 1 0.9978142 0.9989071 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.05768159 0.03414632 0.9968188 0.9529931 NA 0.04591396 NA FALSE NA 0 -0.074 rs113665333 intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 17/64 rs113665333 1 NA G:0.0003 G:0 AAT A,G 4.204e-05 6:33178649 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant 0.237712 0.20695 0.04085 0.056701 0.7286583 0.046368 0.9999993 TRUE 3.31137e-05 ENSE00001697052_002 ENSE00001697052 002 6 33146403 33146572 - 53 54 63 A G 33146429 904 144 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGCAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178651 33178652 33178652 downstr_intron 27 1.519231 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGCAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 18 598 1 0.9994252 0.9997126 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.05768159 0.03575733 0.9968188 0.9529931 NA 0.04671946 NA FALSE NA 0 -2.253 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 17/64 1 NA TAC A,G 8.408e-06 6:33178652 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant 0.107668 0.2976 0.06562 0.056701 0.6973864 0.046368 0.9999993 TRUE NA ENSE00001697052_003 ENSE00001697052 003 6 33146403 33146572 - 53 54 63 A C 33146431 905 142 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTGGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178653 33178654 33178654 downstr_intron 25 1.480769 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTGGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 37 298 0.8 0.9927899 0.896395 0.9980007 0.9956369 0.9423184 0.9636678 NA NA -0.1423184 0.02912207 0.9968188 0.9529931 NA -0.05659817 NA FALSE NA 0 -2.751 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:33178654 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant -0.099192 0.27771 0.01224 0.056701 0.7692395 0.046368 0.9999993 TRUE NA ENSE00001697052_004 ENSE00001697052 004 6 33146403 33146572 - 53 54 63 A G 33146431 906 142 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTCGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178653 33178654 33178654 downstr_intron 25 1.480769 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTCGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 210 26 0.9933481 1 0.9966741 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.05102971 0.03633215 0.9968188 0.9529931 NA 0.04368093 NA FALSE NA 0 -2.751 NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001697052 intron_variant 0.14035 0.25685 0.03639 0.056701 0.7824639 0.046368 0.9999993 TRUE NA ENSE00001697052_005 ENSE00001697052 005 6 33146403 33146572 - 53 54 63 C T 33146435 907 138 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTATGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178657 33178658 33178658 downstr_intron 21 1.403846 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTATGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 520 141 0.9942709 0.9947012 0.9944861 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.0519525 0.0310334 0.9968188 0.9529931 NA 0.04149295 NA FALSE NA 0 1.251 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 17/64 1 NA ACA C,T 8.41e-06 6:33178658 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant 0.179757 0.19362 0.05549 0.056701 0.3359979 0.046368 0.9999993 TRUE 4.13808e-06 ENSE00001697052_006 ENSE00001697052 006 6 33146403 33146572 - 53 54 63 C T 33146437 908 136 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTATGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178659 33178660 33178660 downstr_intron 19 1.365385 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTATGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 297 78 0.9980438 1 0.9990219 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.05572539 0.03633215 0.9968188 0.9529931 NA 0.04602877 NA FALSE NA 0 0.417 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 17/64 1 NA ACA C,T 8.411e-06 6:33178660 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant -0.16792 0.14402 0.06123 0.056701 0.2394005 0.046368 0.9999993 TRUE 2.48242e-05 ENSE00001697052_007 ENSE00001697052 007 6 33146403 33146572 - 53 54 63 T C 33146449 909 124 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTGCATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178671 33178672 33178672 downstr_intron 7 1.134615 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTGCATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 343 23 0.8861811 0.8 0.8430906 0.9980007 0.9956369 0.9423184 0.9636678 NA NA -0.05613728 -0.1636678 0.9968188 0.9529931 NA -0.1099026 NA FALSE NA 0.012 -0.484 . splice_region_variant&intron_variant LOW COL11A2 HGNC 2187 ENST00000395197 17/64 1 NA GTA T,C 8.418e-06 6:33178672 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 splice_region_variant 0.015583 0.31803 0.01883 0.056701 0.6863711 0.134 0.9999993 TRUE 4.13589e-06 ENSE00001697052_008 ENSE00001697052 008 6 33146403 33146572 - 53 54 63 A G 33146459 910 114 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCACAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178681 33178682 33178682 exon -4 0.9444444 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCACAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 31 110 0.9287534 0.9971833 0.9629683 0.9980007 0.9956369 0.9423184 0.9636678 NA NA -0.01356506 0.03351546 0.9968188 0.9529931 NA 0.009975204 NA FALSE NA 0.079 0.102 . synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 17/65 rs533884328 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TAT A,G 8.419e-06 6:33178682 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 synonymous_variant -0.452767 0.93138 0.1046 0.615465 0.356676 0 0.9999993 TRUE 2.06748e-05 ENSE00001697052_009 ENSE00001697052 009 6 33146403 33146572 - 53 54 63 G T 33146461 911 112 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCAATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178683 33178684 33178684 exon -6 0.9074074 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCAATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 311 88 0.9925587 1 0.9962794 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.05024034 0.03633215 0.9968188 0.9529931 NA 0.04328624 NA FALSE NA 0.981 1.196 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 17/65 1 benign(0.099) NA TGG G,T 1.683e-05 6:33178684 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 missense_variant 1.79895 0.98029 0.90151 0.615465 0.9599113 0 0.9999993 TRUE 1.65397e-05 ENSE00001697052_013 ENSE00001697052 013 6 33146403 33146572 - 53 54 63 A G 33146515 915 58 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCCCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178737 33178738 33178738 upstr_intron -6 -0.07936508 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCCCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 288 51 0.9981274 1 0.9990637 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.05580903 0.03633215 0.9968188 0.9529931 NA 0.04607059 NA FALSE NA 0.001 0.607 . splice_region_variant&intron_variant LOW COL11A2 HGNC 2187 ENST00000395197 16/64 1 NA GAG A,G 8.418e-06 6:33178738 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 splice_region_variant 0.191576 0.18667 0.01279 0.056701 0.6660368 0.194677 0.9999993 TRUE 4.14422e-06 ENSE00001697052_014 ENSE00001697052 014 6 33146403 33146572 - 53 54 63 A C 33146518 916 55 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCGCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178740 33178741 33178741 upstr_intron -9 -0.1269841 AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCGCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 1307 663 0.9405653 0.9824789 0.9615221 0.9980007 0.9956369 0.9423184 0.9636678 NA NA -0.001753065 0.01881101 0.9968188 0.9529931 NA 0.008528975 NA FALSE NA 0 -0.394 rs181999673 intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 16/64 rs181999673 1 C:0.0008 C:0 C:0 NA C:0.004 C:0 C:0 GAG A,C 0.0002778 6:33178741 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant 0.042912 0.19244 0.07435 0.056701 0.7134384 0.179266 0.9999993 TRUE 0.000240172 ENSE00001697052_015 ENSE00001697052 015 6 33146403 33146572 - 53 54 63 G A 33146544 917 29 AGTAGGGAGGGGTGGGCTTGGACAGGGTTGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178766 33178767 33178767 upstr_intron -35 -0.5396825 AGTAGGGAGGGGTGGGCTTGGACAGGGTTGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 936 121 0.8167193 1 0.9083596 0.9980007 0.9956369 0.9423184 0.9636678 NA NA -0.1255991 0.03633215 0.9968188 0.9529931 NA -0.04463349 NA FALSE NA 0 -0.088 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 16/64 1 NA CGA G,A 8.404e-06 6:33178767 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant 0.124768 0.20395 0.00354 0.056701 0.5166005 0.0601174 0.9999993 TRUE 4.14697e-06 ENSE00001697052_016 ENSE00001697052 016 6 33146403 33146572 - 53 54 63 C T 33146553 918 20 AGTAGGGAGGGGTGGGCTTAGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178775 33178776 33178776 upstr_intron -44 -0.6825397 AGTAGGGAGGGGTGGGCTTAGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 701 491 1 0.9997671 0.9998836 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.05768159 0.03609929 0.9968188 0.9529931 NA 0.04689044 NA FALSE NA 0 0.903 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 16/64 1 NA CCA C,T 8.399e-06 6:33178776 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant 0.127562 0.21907 0.10852 0.056701 0.4132407 0.0450963 0.9999993 TRUE 4.15007e-06 ENSE00001697052_018 ENSE00001697052 018 6 33146403 33146572 - 53 54 63 C T 33146561 920 12 AGTAGGGAGGGATGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 33178783 33178784 33178784 upstr_intron -52 -0.8095238 AGTAGGGAGGGATGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG mutant NA NA NA NA NA 122 218 0.9965771 0.9992738 0.9979255 0.9980007 0.9956369 0.9423184 0.9636678 NA NA 0.05425874 0.03560599 0.9968188 0.9529931 NA 0.04493236 NA FALSE NA 0 -1.822 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 16/64 1 NA ACC C,T 8.39e-06 6:33178784 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001697052 intron_variant 0.099495 0.10452 0.0154 0.056701 0.6076088 0.0450963 0.9999993 TRUE 4.15344e-06 ENSE00001697052_BRK ENSE00001697052 BRK 6 33146403 33146572 - 53 54 63 A,G; T,T NA NA NA AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTTTGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGCCGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG 33178625 33178795 NA NA NA NA NA NA AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTTTGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGCCGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG AGTAGGGAGGGGTGGGCTTGGACAGGGTCGTGTCCTCACTCTGGCTATCCTTCCTCCTCCTAGGGTGACCGAGGTTTTGATGGACTCCCAGGGCTCCCTGGAGAGAAGGGCCATAGGGTGAGTACATTAGTGGGTGTGTGTTGTAATTGGGGATAGATCTTCTATGGGAG control 267 49 0 0 0 134 336 0 0.02282205 0.01141103 0.9980007 0.9956369 0.9423184 0.9636678 -0.9980007 -0.9956369 -0.9423184 -0.9408458 0.9968188 0.9529931 -0.9968188 -0.9415821 0.05523668 TRUE TRUE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001697052 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001697359_000 ENSE00001697359 000 14 104436828 104436997 + 50 81 39 NA NA NA NA NA TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT 103970490 103970660 NA NA NA NA NA NA TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT natural 26 32 0.9989502 0.9978957 0.9984229 2777 4604 0.9787015 0.9275286 0.9531151 0.9989502 0.9978957 0.9787015 0.9275286 0 0 0 0 0.9984229 0.9531151 0 0 0 FALSE FALSE NA NA NA NA NA TDRD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TDRD9 NA NA NA ENSG00000156414 ENSE00001697359 NA NA NA NA NA NA NA 3.822989e-07 FALSE NA ENSE00001697359_002 ENSE00001697359 002 14 104436828 104436997 + 50 81 39 T C 104436847 1813 20 TGTGTGTTGCCTGATGCCACGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT 103970490 103970660 103970509 103970510 103970510 upstr_intron -31 -0.6 TGTGTGTTGCCTGATGCCACGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT mutant NA NA NA NA NA 424 164 0.9769582 0.9541527 0.9655555 0.9989502 0.9978957 0.9787015 0.9275286 NA NA -0.001743267 0.02662409 0.9984229 0.9531151 NA 0.01244041 NA FALSE NA 0 -0.594 rs150536275 upstream_gene_variant MODIFIER TDRD9 HGNC 20122 ENST00000557332 rs150536275 1 C:0.0026 C:0.0098 C:0 NA C:0 C:0 C:0 C:0.0022 C:0 ATG T,C 0.0002657 14:103970510 TDRD9 HGNC Symbol protein_coding 124205 ENSG00000156414 ENSE00001697359 intron_variant 0.543342 0.1359 0.02691 0.061011 0.7379552 0.0647611 3.822989e-07 FALSE 0.000304995 ENSE00001697359_003 ENSE00001697359 003 14 104436828 104436997 + 50 81 39 G T 104436855 1814 28 TGTGTGTTGCCTGATGCCATGTGGGGGTTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT 103970490 103970660 103970517 103970518 103970518 upstr_intron -23 -0.44 TGTGTGTTGCCTGATGCCATGTGGGGGTTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT mutant NA NA NA NA NA 44 455 1 1 1 0.9989502 0.9978957 0.9787015 0.9275286 NA NA 0.02129851 0.07247136 0.9984229 0.9531151 NA 0.04688493 NA FALSE NA 0 -0.818 . upstream_gene_variant MODIFIER TDRD9 HGNC 20122 ENST00000557332 1 NA GGT G,T 7.648e-05 14:103970518 TDRD9 HGNC Symbol protein_coding 124205 ENSG00000156414 ENSE00001697359 intron_variant 0.437 0.13063 0.02037 0.061011 0.8900687 0.0631758 3.822989e-07 FALSE 7.28622e-05 ENSE00001697359_004 ENSE00001697359 004 14 104436828 104436997 + 50 81 39 G A 104436878 1815 51 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGATACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT 103970490 103970660 103970540 103970541 103970541 exon 1 0.01234568 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGATACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT mutant NA NA NA NA NA 798 13 0.9968804 0.9432488 0.9700646 0.9989502 0.9978957 0.9787015 0.9275286 NA NA 0.01817888 0.01572019 0.9984229 0.9531151 NA 0.01694953 NA FALSE NA 1 9.187 . upstream_gene_variant MODIFIER TDRD9 HGNC 20122 ENST00000557332 rs373902320 1 NA A:0 A:0.0003 GGT G,A 0.0001177 14:103970541 TDRD9 HGNC Symbol protein_coding 124205 ENSG00000156414 ENSE00001697359 missense_variant 6.236945 0.99618 0.99375 0.516011 0.9990081 0 3.822989e-07 FALSE 5.28248e-05 ENSE00001697359_005 ENSE00001697359 005 14 104436828 104436997 + 50 81 39 C T 104436883 1816 56 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACATGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT 103970490 103970660 103970545 103970546 103970546 exon 6 0.07407407 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACATGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT mutant NA NA NA NA NA 273 206 0.9988755 0.992244 0.9955597 0.9989502 0.9978957 0.9787015 0.9275286 NA NA 0.02017396 0.06471532 0.9984229 0.9531151 NA 0.04244464 NA FALSE NA 0.003 -1.672 . upstream_gene_variant MODIFIER TDRD9 HGNC 20122 ENST00000557332 rs533342199 1 T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 ACG C,T 0.001535 14:103970546 TDRD9 HGNC Symbol protein_coding 124205 ENSG00000156414 ENSE00001697359 synonymous_variant 1.542513 0.9338 0.02099 0.516011 0.7438 0 3.822989e-07 FALSE 0.000666596 ENSE00001697359_007 ENSE00001697359 007 14 104436828 104436997 + 50 81 39 A G 104436895 1818 68 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAGGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT 103970490 103970660 103970557 103970558 103970558 exon 18 0.2222222 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAGGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT mutant 24 42 0.85 0.85 0.85 35 240 0.9663524 0.9616327 0.9639925 0.9989502 0.9978957 0.9787015 0.9275286 -0.1489502 -0.1478957 -0.01234913 0.03410402 0.9984229 0.9531151 -0.1484229 0.01087744 0.1593004 FALSE FALSE 0.978 0.161 . upstream_gene_variant MODIFIER TDRD9 HGNC 20122 ENST00000557332 1 NA AAG A,G 3.955e-05 14:103970558 TDRD9 HGNC Symbol protein_coding 124205 ENSG00000156414 ENSE00001697359 synonymous_variant 0.59726 0.96109 0.69029 0.516011 0.5322244 0 3.822989e-07 FALSE 1.97853e-05 ENSE00001697359_009 ENSE00001697359 009 14 104436828 104436997 + 50 81 39 C T 104436923 1820 96 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCTGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT 103970490 103970660 103970585 103970586 103970586 exon -36 0.5679012 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCTGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT mutant NA NA NA NA NA 389 452 0.9919628 0.9952804 0.9936216 0.9989502 0.9978957 0.9787015 0.9275286 NA NA 0.01326135 0.06775172 0.9984229 0.9531151 NA 0.04050653 NA FALSE NA 1 2.07 . upstream_gene_variant MODIFIER TDRD9 HGNC 20122 ENST00000557332 rs576790084&COSM1135529 1 NA CCG C,T 0.0001197 14:103970586 TDRD9 HGNC Symbol protein_coding 124205 ENSG00000156414 ENSE00001697359 missense_variant 7.729673 0.99184 0.94469 0.516011 0.9994403 0 3.822989e-07 FALSE 0.000112149 ENSE00001697359_012 ENSE00001697359 012 14 104436828 104436997 + 50 81 39 T C 104436978 1823 151 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGCAACAGACATATTTAGGATT 103970490 103970660 103970640 103970641 103970641 downstr_intron 20 1.526316 TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGCAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT mutant NA NA NA NA NA 61 317 0.9670466 0.9975491 0.9822978 0.9989502 0.9978957 0.9787015 0.9275286 NA NA -0.01165491 0.07002045 0.9984229 0.9531151 NA 0.02918277 NA FALSE NA 0.932 0.678 . intron_variant MODIFIER TDRD9 HGNC 20122 ENST00000557332 1/25 1 NA GTA T,C 4.069e-05 14:103970641 TDRD9 HGNC Symbol protein_coding 124205 ENSG00000156414 ENSE00001697359 intron_variant 0.816043 0.96432 0.43622 0.061011 0.7467789 0.151322 3.822989e-07 FALSE 6.63808e-06 ENSE00001697359_BRK ENSE00001697359 BRK 14 104436828 104436997 + 50 81 39 A,G; T,T NA NA NA TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTTTGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGCCAAATTTGATTTCATGAGTAACAGACATATTTAGGATT 103970490 103970660 NA NA NA NA NA NA TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTTTGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGCCAAATTTGATTTCATGAGTAACAGACATATTTAGGATT TGTGTGTTGCCTGATGCCATGTGGGGGGTGCCCCCTTTTTTATTTTGTAGGTACACGAACGAACAGAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTTGTGAAGGTAAATTTGATTTCATGAGTAACAGACATATTTAGGATT control 811 205 0 0 0 NA NA NA NA NA 0.9989502 0.9978957 0.9787015 0.9275286 -0.9989502 -0.9978957 NA NA 0.9984229 0.9531151 -0.9984229 NA NA NA TRUE NA NA NA NA NA TDRD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TDRD9 NA NA NA ENSG00000156414 ENSE00001697359 NA NA NA NA NA NA NA 3.822989e-07 FALSE NA ENSE00001697371_000 ENSE00001697371 000 14 21930464 21930633 - 45 69 56 NA NA NA NA NA TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGAAAGGGTAGAAGTGCTGGCAGTTAACTTTGGCTTGTTCTG 21462304 21462474 NA NA NA NA NA NA TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGAAAGGGTAGAAGTGCTGGCAGTTAACTTTGGCTTGTTCTG TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGAAAGGGTAGAAGTGCTGGCAGTTAACTTTGGCTTGTTCTG natural NA NA NA NA NA 486 912 0.8972298 0.8216102 0.85942 NA NA 0.8972298 0.8216102 NA NA 0 0 NA 0.85942 NA 0 NA FALSE NA NA NA NA NA NA RAB2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB2B NA NA NA ENSG00000129472 ENSE00003482234 NA NA NA NA NA NA NA 0.0001478216 FALSE NA ENSE00001697371_001 ENSE00001697371 001 14 21930464 21930633 - 45 69 56 A G 21930475 133 159 TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGAAAGGGTAGAAGTGCTGGCAGTTAACTTCGGCTTGTTCTG 21462304 21462474 21462315 21462316 21462316 downstr_intron 34 1.772727 TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGAAAGGGTAGAAGTGCTGGCAGTTAACTTCGGCTTGTTCTG TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGAAAGGGTAGAAGTGCTGGCAGTTAACTTTGGCTTGTTCTG mutant NA NA NA NA NA 75 547 1 1 1 NA NA 0.8972298 0.8216102 NA NA 0.1027702 0.1783898 NA 0.85942 NA 0.14058 NA FALSE NA 0.003 0.801 . intron_variant&NMD_transcript_variant MODIFIER RAB2B HGNC 20246 ENST00000417141 5/5 1 NA CAA A,G 8.237e-06 14:21462316 RAB2B HGNC Symbol protein_coding 17953 ENSG00000129472 ENSE00003482234 intron_variant 0.098522 0.21638 0.15847 0.156188 0.7539289 0.0904368 0.0001478216 FALSE 4.17456e-06 ENSE00001697371_004 ENSE00001697371 004 14 21930464 21930633 - 45 69 56 T C 21930503 136 131 TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGGAAGGGTAGAAGTGCTGGCAGTTAACTTTGGCTTGTTCTG 21462304 21462474 21462343 21462344 21462344 downstr_intron 6 1.136364 TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGGAAGGGTAGAAGTGCTGGCAGTTAACTTTGGCTTGTTCTG TCCCTCATTTCTCTACCTGAACTTGAGACTGATGATACGATTTATGTCTCTTTCAGGCCTTCATTAACACAGCCAAAGAAATATATAGGAAGATCCAGCAGGGTTTATTTGATGTCCACAATGAGGTAAGAAAGGGTAGAAGTGCTGGCAGTTAACTTTGGCTTGTTCTG mutant 28 23 0.85 0.85 0.85 603 1452 0.975231 0.9607491 0.96799 NA NA 0.8972298 0.8216102 NA NA 0.07800113 0.1391389 NA 0.85942 NA 0.10857 NA FALSE NA 0.997 1.574 . splice_region_variant&intron_variant&NMD_transcript_variant LOW RAB2B HGNC 20246 ENST00000417141 5/5 1 NA TTC T,C 8.237e-06 14:21462344 RAB2B HGNC Symbol protein_coding 17953 ENSG00000129472 ENSE00003482234 splice_region_variant 1.425419 0.97079 0.69669 0.295142 0.9320335 0.511104 0.0001478216 FALSE 4.0815e-06 ENSE00001698921_000 ENSE00001698921 000 3 44869659 44869828 + 47 87 36 NA NA NA NA NA CTTTGCGATTTAATTATTCTTCTAAAAATATTTCTTTTTCACCATAGATGGCAAAAGTACAGAAACTAGAAGAGAGCTTGCTTGCTACTGAAAAAGTGATCAGTTCCCTGGAAAAGTCTAGAGATTCTGATAAGGTTGGTAGAGTTTGAAGCTACATCTCTCTGTGCATT 44828166 44828336 NA NA NA NA NA NA CTTTGCGATTTAATTATTCTTCTAAAAATATTTCTTTTTCACCATAGATGGCAAAAGTACAGAAACTAGAAGAGAGCTTGCTTGCTACTGAAAAAGTGATCAGTTCCCTGGAAAAGTCTAGAGATTCTGATAAGGTTGGTAGAGTTTGAAGCTACATCTCTCTGTGCATT CTTTGCGATTTAATTATTCTTCTAAAAATATTTCTTTTTCACCATAGATGGCAAAAGTACAGAAACTAGAAGAGAGCTTGCTTGCTACTGAAAAAGTGATCAGTTCCCTGGAAAAGTCTAGAGATTCTGATAAGGTTGGTAGAGTTTGAAGCTACATCTCTCTGTGCATT natural NA NA NA NA NA 1382 2055 0.9858961 0.9993465 0.9926213 NA NA 0.9858961 0.9993465 NA NA 0 0 NA 0.9926213 NA 0 NA FALSE NA NA NA NA NA NA KIF15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF15 NA NA NA ENSG00000163808 ENSE00003489906 NA NA NA NA NA NA NA 7.469498e-13 FALSE NA ENSE00001698921_016 ENSE00001698921 016 3 44869659 44869828 + 47 87 36 G A 44869802 721 144 CTTTGCGATTTAATTATTCTTCTAAAAATATTTCTTTTTCACCATAGATGGCAAAAGTACAGAAACTAGAAGAGAGCTTGCTTGCTACTGAAAAAGTGATCAGTTCCCTGGAAAAGTCTAGAGATTCTGATAAGGTTGGTAGAATTTGAAGCTACATCTCTCTGTGCATT 44828166 44828336 44828309 44828310 44828310 downstr_intron 10 1.285714 CTTTGCGATTTAATTATTCTTCTAAAAATATTTCTTTTTCACCATAGATGGCAAAAGTACAGAAACTAGAAGAGAGCTTGCTTGCTACTGAAAAAGTGATCAGTTCCCTGGAAAAGTCTAGAGATTCTGATAAGGTTGGTAGAATTTGAAGCTACATCTCTCTGTGCATT CTTTGCGATTTAATTATTCTTCTAAAAATATTTCTTTTTCACCATAGATGGCAAAAGTACAGAAACTAGAAGAGAGCTTGCTTGCTACTGAAAAAGTGATCAGTTCCCTGGAAAAGTCTAGAGATTCTGATAAGGTTGGTAGAGTTTGAAGCTACATCTCTCTGTGCATT mutant NA NA NA NA NA 150 815 1 0.9993369 0.9996684 NA NA 0.9858961 0.9993465 NA NA 0.01410387 -9.646338e-06 NA 0.9926213 NA 0.007047112 NA FALSE NA 0 -0.901 . intron_variant&NMD_transcript_variant MODIFIER KIF15 HGNC 17273 ENST00000438321 23/33 1 NA AGT G,A 6.589e-05 3:44828310 KIF15 HGNC Symbol protein_coding 111659 ENSG00000163808 ENSE00003489906 intron_variant 0.825456 0.17312 0.0147 0.088506 0.512294 0.239466 7.469498e-13 FALSE 3.68252e-05 ENSE00001699188_000 ENSE00001699188 000 1 103427369 103427538 - 53 54 63 NA NA NA NA NA TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 NA NA NA NA NA NA TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC natural 17 29 0.998283 0.9933585 0.9958207 1328 1675 0.9286005 0.9933012 0.9609508 0.998283 0.9933585 0.9286005 0.9933012 0 0 0 0 0.9958207 0.9609508 0 0 0 FALSE FALSE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001699188 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001699188_001 ENSE00001699188 001 1 103427369 103427538 - 53 54 63 C T 103427380 2824 159 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTAAATTACAGCTC 102961812 102961982 102961823 102961824 102961824 downstr_intron 42 1.807692 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTAAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 518 198 1 1 1 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.006698846 0.9958207 0.9609508 NA 0.03904917 NA FALSE NA 0 -0.697 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 39/64 1 NA TCA C,T 8.238e-06 1:102961824 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 non_coding_transcript_exon_variant -0.219775 0.09905 0.004 0.053691 0.22991 0.105215 0.9999806 TRUE 4.16043e-06 ENSE00001699188_002 ENSE00001699188 002 1 103427369 103427538 - 53 54 63 A G 103427381 2825 158 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGCGAATTACAGCTC 102961812 102961982 102961824 102961825 102961825 downstr_intron 41 1.788462 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGCGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 23 105 1 1 1 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.006698846 0.9958207 0.9609508 NA 0.03904917 NA FALSE NA 0 -0.594 rs1012282 intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 39/64 rs1012282 1 G:0.2414 G:0.3994 G:0.255 NA G:0.0873 G:0.2634 G:0.1544 G:0.3759 G:0.2629 CAC G,G 0.247 1:102961825 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 non_coding_transcript_exon_variant -0.447844 0.11404 0.0045 0.053691 0.3570625 0.105215 0.9999806 TRUE 0.248385 ENSE00001699188_003 ENSE00001699188 003 1 103427369 103427538 - 53 54 63 A G 103427384 2826 155 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGCTGTGAATTACAGCTC 102961812 102961982 102961827 102961828 102961828 downstr_intron 38 1.730769 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGCTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant 32 20 0.948532 0.9414429 0.9449874 1225 481 0.9992248 0.96616 0.9826924 0.998283 0.9933585 0.9286005 0.9933012 -0.04975105 -0.05191554 0.07062424 -0.02714117 0.9958207 0.9609508 -0.0508333 0.02174154 0.07257484 FALSE FALSE 0.001 0.4 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 39/64 1 NA AAC A,G 8.238e-06 1:102961828 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 non_coding_transcript_exon_variant 0.139705 0.28881 0.15033 0.053691 0.5787475 0.105215 0.9999806 TRUE 2.48373e-05 ENSE00001699188_004 ENSE00001699188 004 1 103427369 103427538 - 53 54 63 C A 103427385 2827 154 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGTTTGTGAATTACAGCTC 102961812 102961982 102961828 102961829 102961829 downstr_intron 37 1.711538 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGTTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 302 688 1 0.9997701 0.999885 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.006468905 0.9958207 0.9609508 NA 0.0389342 NA FALSE NA 0 -2.012 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 39/64 rs371621900 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 ACC C,A 9.885e-05 1:102961829 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 non_coding_transcript_exon_variant -0.218795 0.1518 0.04876 0.053691 0.3007952 0.105215 0.9999806 TRUE 8.2778e-05 ENSE00001699188_005 ENSE00001699188 005 1 103427369 103427538 - 53 54 63 C A 103427386 2828 153 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATTGTTGTGAATTACAGCTC 102961812 102961982 102961829 102961830 102961830 downstr_intron 36 1.692308 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATTGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 246 360 1 0.9886774 0.9943387 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 -0.00462372 0.9958207 0.9609508 NA 0.03338789 NA FALSE NA 0 -0.66 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 39/64 1 NA CCA C,A 8.238e-06 1:102961830 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 non_coding_transcript_exon_variant 0.102093 0.21884 0.0831 0.053691 0.3728464 0.105215 0.9999806 TRUE NA ENSE00001699188_006 ENSE00001699188 006 1 103427369 103427538 - 53 54 63 A G 103427387 2829 152 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCACGGTTGTGAATTACAGCTC 102961812 102961982 102961830 102961831 102961831 downstr_intron 35 1.673077 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCACGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 178 342 1 1 1 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.006698846 0.9958207 0.9609508 NA 0.03904917 NA FALSE NA 0 0.119 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 39/64 1 NA CAT A,G 8.237e-06 1:102961831 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 non_coding_transcript_exon_variant -0.179219 0.22039 0.10504 0.053691 0.5206822 0.105215 0.9999806 TRUE NA ENSE00001699188_007 ENSE00001699188 007 1 103427369 103427538 - 53 54 63 T C 103427391 2830 148 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAGTCATGGTTGTGAATTACAGCTC 102961812 102961982 102961834 102961835 102961835 downstr_intron 31 1.596154 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAGTCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 321 146 0.8625583 1 0.9312791 0.998283 0.9933585 0.9286005 0.9933012 NA NA -0.06604224 0.006698846 0.9958207 0.9609508 NA -0.0296717 NA FALSE NA 0 0.093 rs116365261 intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 39/64 rs116365261 1 C:0.0034 C:0.0121 C:0.0014 NA C:0 C:0 C:0 C:0.0118 C:0 ATT T,C 0.001071 1:102961835 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 non_coding_transcript_exon_variant -0.212856 0.20949 0.0411 0.053691 0.4898559 0.105215 0.9999806 TRUE 0.000762258 ENSE00001699188_008 ENSE00001699188 008 1 103427369 103427538 - 53 54 63 C G 103427399 2831 140 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATACCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961842 102961843 102961843 downstr_intron 23 1.442308 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATACCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 64 763 1 1 1 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.006698846 0.9958207 0.9609508 NA 0.03904917 NA FALSE NA 0 -0.215 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 39/64 1 NA GCT C,G 1.647e-05 1:102961843 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 non_coding_transcript_exon_variant 0.124378 0.25879 0.14918 0.053691 0.6165272 0.190389 0.9999806 TRUE 8.21814e-06 ENSE00001699188_013 ENSE00001699188 013 1 103427369 103427538 - 53 54 63 G A 103427436 2836 103 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCTCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961879 102961880 102961880 exon -15 0.7407407 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCTCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 289 133 1 0.9946774 0.9973387 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.001376254 0.9958207 0.9609508 NA 0.03638787 NA FALSE NA 1 9.461 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 39/65 1 unknown(0) NA GGG G,A 2.471e-05 1:102961880 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 missense_variant 3.615887 0.99484 0.99324 0.706298 0.9940368 0 0.9999806 TRUE 2.44892e-05 ENSE00001699188_016 ENSE00001699188 016 1 103427369 103427538 - 53 54 63 C T 103427453 2839 86 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGAGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961896 102961897 102961897 exon 23 0.4259259 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGAGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 360 296 0.9986201 0.9998713 0.9992457 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07001958 0.006570173 0.9958207 0.9609508 NA 0.03829488 NA FALSE NA 0.998 3.655 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 39/65 1 unknown(0) NA CCC C,T 4.942e-05 1:102961897 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 missense_variant 1.9355 0.98784 0.95771 0.706298 0.8135793 0 0.9999806 TRUE 3.2692e-05 ENSE00001699188_018 ENSE00001699188 018 1 103427369 103427538 - 53 54 63 G T 103427463 2841 76 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGAATGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961906 102961907 102961907 exon 13 0.2407407 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGAATGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 894 340 0.9977157 0.9990686 0.9983921 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.06911516 0.005767396 0.9958207 0.9609508 NA 0.03744128 NA FALSE NA 1 1.167 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 39/65 1 unknown(0) NA AGT G,T 8.237e-06 1:102961907 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 missense_variant 3.71999 0.98315 0.9494 0.706298 0.9907556 0 0.9999806 TRUE 1.63767e-05 ENSE00001699188_021 ENSE00001699188 021 1 103427369 103427538 - 53 54 63 C T 103427475 2844 64 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGAGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961918 102961919 102961919 exon 1 0.01851852 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGAGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 190 59 1 1 1 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.006698846 0.9958207 0.9609508 NA 0.03904917 NA FALSE NA 1 7.475 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:102961919 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 missense_variant 5.487049 0.99486 0.98947 0.706298 0.9931482 0 0.9999806 TRUE 8.21922e-06 ENSE00001699188_022 ENSE00001699188 022 1 103427369 103427538 - 53 54 63 C A 103427475 2845 64 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGTGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961918 102961919 102961919 exon 1 0.01851852 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGTGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 513 725 0.9893757 0.8197762 0.9045759 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.06077521 -0.173525 0.9958207 0.9609508 NA -0.05637489 NA FALSE NA 1 7.475 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001699188 missense_variant 5.78525 0.99506 0.99135 0.706298 0.9921967 0 0.9999806 TRUE 4.10961e-06 ENSE00001699188_023 ENSE00001699188 023 1 103427369 103427538 - 53 54 63 G A 103427480 2846 59 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTTCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961923 102961924 102961924 upstr_intron -5 -0.06349206 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTTCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 473 741 1 0.9993592 0.9996796 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.006058014 0.9958207 0.9609508 NA 0.03872875 NA FALSE NA 0.84 1.276 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 38/64 1 NA GGA G,A 2.472e-05 1:102961924 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 splice_region_variant 0.714899 0.27485 0.07787 0.053691 0.5781963 0.413322 0.9999806 TRUE 4.13445e-05 ENSE00001699188_024 ENSE00001699188 024 1 103427369 103427538 - 53 54 63 A T 103427492 2847 47 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTATTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961935 102961936 102961936 upstr_intron -17 -0.2539683 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTATTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 946 92 1 0.998277 0.9991385 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.004975889 0.9958207 0.9609508 NA 0.03818769 NA FALSE NA 0 -1.543 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 38/64 1 NA AAA A,T 8.243e-06 1:102961936 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 intron_variant -0.358091 0.30442 0.16497 0.053691 0.6508744 0.237881 0.9999806 TRUE 4.20016e-06 ENSE00001699188_025 ENSE00001699188 025 1 103427369 103427538 - 53 54 63 A T 103427496 2848 43 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTAATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961939 102961940 102961940 upstr_intron -21 -0.3174603 TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTAATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 28 283 1 1 1 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.07139949 0.006698846 0.9958207 0.9609508 NA 0.03904917 NA FALSE NA 0.052 0.856 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 38/64 1 NA TAA A,T 2.473e-05 1:102961940 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 intron_variant -0.331287 0.26371 0.05057 0.053691 0.6714984 0.143372 0.9999806 TRUE 1.68987e-05 ENSE00001699188_029 ENSE00001699188 029 1 103427369 103427538 - 53 54 63 A C 103427511 2852 28 TCTCCTCCTATTGGTATTCAATTCATAGGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 102961954 102961955 102961955 upstr_intron -36 -0.5555556 TCTCCTCCTATTGGTATTCAATTCATAGGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC mutant NA NA NA NA NA 54 152 0.9378646 1 0.9689323 0.998283 0.9933585 0.9286005 0.9933012 NA NA 0.009264112 0.006698846 0.9958207 0.9609508 NA 0.007981479 NA FALSE NA 0 0.418 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 38/64 1 NA CAT A,C 8.251e-06 1:102961955 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001699188 intron_variant -0.66512 0.23455 0.09603 0.053691 0.4742508 0.0760755 0.9999806 TRUE NA ENSE00001699188_BRK ENSE00001699188 BRK 1 103427369 103427538 - 53 54 63 A,G; T,T NA NA NA TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCTTGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTCCAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC 102961812 102961982 NA NA NA NA NA NA TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCTTGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTCCAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC TCTCCTCCTATTGGTATTCAATTCATATGGATTCATTTTCTTTATTTTTTTCACTTTTCCCAGGGTGCACCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTTGTAAGTATGATGATAATAAATAGCCAGACAATCATGGTTGTGAATTACAGCTC control NA NA NA NA NA 1731 14 0.02001932 0.02385878 0.02193905 0.998283 0.9933585 0.9286005 0.9933012 NA NA -0.9085812 -0.9694424 0.9958207 0.9609508 NA -0.9390118 NA TRUE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001699188 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001699399_000 ENSE00001699399 000 14 99872811 99872980 - 42 75 53 NA NA NA NA NA GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 NA NA NA NA NA NA GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG natural 1272 1835 0.8508947 0.8304464 0.8406705 1928 2560 0.8485287 0.7815217 0.8150252 0.8508947 0.8304464 0.8485287 0.7815217 0 0 0 0 0.8406705 0.8150252 0 0 0 FALSE FALSE NA NA NA NA NA SETD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SETD3 NA NA NA ENSG00000183576 ENSE00003668504 NA NA NA NA NA NA NA 0.371891 FALSE NA ENSE00001699399_001 ENSE00001699399 001 14 99872811 99872980 - 42 75 53 C A 99872824 1500 157 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTTAGCCAGCCAGTGG 99406473 99406643 99406486 99406487 99406487 downstr_intron 29 1.707317 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTTAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 17 145 0.85 0.85 0.85 1244 197 0.8136439 0.8302848 0.8219644 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 -0.03488484 0.0487631 0.8406705 0.8150252 0.009329451 0.006939129 0.002390322 FALSE FALSE 0.001 0.127 . intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 9/12 1 NA TCA C,A 1.647e-05 14:99406487 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant 0.31626 0.24263 0.04731 0.295142 0.4861392 0.046323 0.371891 FALSE 8.15016e-06 ENSE00001699399_002 ENSE00001699399 002 14 99872811 99872980 - 42 75 53 T G 99872828 1501 153 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAACTGTGAGCCAGCCAGTGG 99406473 99406643 99406490 99406491 99406491 downstr_intron 25 1.609756 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAACTGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 75 322 0.85 0.85 0.85 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 NA NA 0.8406705 0.8150252 0.009329451 NA NA NA FALSE 0 -2.794 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:99406491 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant -0.144231 0.05294 0.00596 0.295142 0.4071604 0.046323 0.371891 FALSE 8.14153e-06 ENSE00001699399_003 ENSE00001699399 003 14 99872811 99872980 - 42 75 53 T C 99872828 1502 153 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAGTGTGAGCCAGCCAGTGG 99406473 99406643 99406490 99406491 99406491 downstr_intron 25 1.609756 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAGTGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 34 97 0.85 0.85 0.85 326 968 0.8113711 0.9620858 0.8867285 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 -0.03715758 0.180564 0.8406705 0.8150252 0.009329451 0.07170323 0.06237378 FALSE FALSE 0 -2.794 NA NA NA SETD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SETD3 NA NA NA ENSG00000183576 ENSE00003668504 intron_variant -0.228363 0.06419 0.00476 0.295142 0.3778609 0.046323 0.371891 FALSE 1.22123e-05 ENSE00001699399_004 ENSE00001699399 004 14 99872811 99872980 - 42 75 53 G T 99872834 1503 147 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTAACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406496 99406497 99406497 downstr_intron 19 1.463415 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTAACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 64 103 0.8149645 0.85 0.8324823 2083 565 0.9537493 0.950848 0.9522986 0.8508947 0.8304464 0.8485287 0.7815217 -0.0359302 0.01955361 0.1052206 0.1693262 0.8406705 0.8150252 -0.008188297 0.1372734 0.1454617 FALSE FALSE 0 -2.271 rs1257264 intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 9/12 rs1257264 1 T:0.0238 T:0.0855 T:0.0072 NA T:0 T:0.001 T:0 T:0.0849 T:0.0005 TGA G,T 0.008311 14:99406497 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant -0.620672 0.11223 0.02845 0.295142 0.3980683 0.046323 0.371891 FALSE 0.00701165 ENSE00001699399_005 ENSE00001699399 005 14 99872811 99872980 - 42 75 53 C T 99872840 1504 141 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGACATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406502 99406503 99406503 downstr_intron 13 1.317073 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGACATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 26 19 0.85 0.85 0.85 415 785 0.976225 0.9807987 0.9785119 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 0.1276963 0.199277 0.8406705 0.8150252 0.009329451 0.1634867 0.1541572 FALSE FALSE 0.001 0.038 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:99406503 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant 0.099679 0.17669 0.03811 0.295142 0.4227148 0.046323 0.371891 FALSE 2.03416e-05 ENSE00001699399_006 ENSE00001699399 006 14 99872811 99872980 - 42 75 53 C A 99872840 1505 141 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGTCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406502 99406503 99406503 downstr_intron 13 1.317073 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGTCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant NA NA NA NA NA 99 300 0.9670524 0.999491 0.9832717 0.8508947 0.8304464 0.8485287 0.7815217 NA NA 0.1185237 0.2179692 0.8406705 0.8150252 NA 0.1682465 NA FALSE NA 0.001 0.038 NA NA NA SETD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SETD3 NA NA NA ENSG00000183576 ENSE00003668504 intron_variant 0.065685 0.17335 0.07584 0.295142 0.3915835 0.046323 0.371891 FALSE 8.13663e-06 ENSE00001699399_007 ENSE00001699399 007 14 99872811 99872980 - 42 75 53 C T 99872843 1506 138 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCATGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406505 99406506 99406506 downstr_intron 10 1.243902 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCATGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 69 72 0.85 0.85 0.85 337 182 0.82437 0.7890907 0.8067304 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 -0.02415866 0.007568934 0.8406705 0.8150252 0.009329451 -0.008294864 0.01762431 FALSE FALSE 0 -1.894 . intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 9/12 1 NA ACG C,T 8.236e-06 14:99406506 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant -0.268641 0.10032 0.00223 0.295142 0.5524112 0.046323 0.371891 FALSE 1.21996e-05 ENSE00001699399_008 ENSE00001699399 008 14 99872811 99872980 - 42 75 53 G A 99872844 1507 137 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTTGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406506 99406507 99406507 downstr_intron 9 1.219512 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTTGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 21 78 0.85 0.8917226 0.8708613 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.06127621 NA NA 0.8406705 0.8150252 0.03019075 NA NA NA FALSE 0.004 0.794 rs140196836 intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 9/12 rs140196836 1 A:0.0066 A:0.0242 A:0.0014 NA A:0 A:0 A:0 A:0.0288 A:0 CGA G,A 0.002792 14:99406507 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant -0.043171 0.22635 0.00655 0.295142 0.5266053 0.0455939 0.371891 FALSE 0.00201678 ENSE00001699399_009 ENSE00001699399 009 14 99872811 99872980 - 42 75 53 G C 99872846 1508 135 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTGTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406508 99406509 99406509 downstr_intron 7 1.170732 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTGTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 29 49 0.85 0.85 0.85 830 151 0.9533848 0.95 0.9516924 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 0.1048561 0.1684783 0.8406705 0.8150252 0.009329451 0.1366672 0.1273377 FALSE FALSE 0.019 -1.043 . splice_region_variant&intron_variant LOW SETD3 HGNC 20493 ENST00000331768 9/12 1 NA AGA G,C 8.236e-06 14:99406509 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 splice_region_variant -0.349873 0.18931 0.0407 0.295142 0.5676313 0.099419 0.371891 FALSE 4.06504e-06 ENSE00001699399_010 ENSE00001699399 010 14 99872811 99872980 - 42 75 53 C T 99872856 1509 125 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAACAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406518 99406519 99406519 exon -4 0.96 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAACAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 45 77 0.85 0.85 0.85 928 376 0.9366209 0.9592691 0.947945 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 0.08809218 0.1777474 0.8406705 0.8150252 0.009329451 0.1329198 0.1235903 FALSE FALSE 0.984 0.148 . synonymous_variant LOW SETD3 HGNC 20493 ENST00000331768 9/13 1 NA GCT C,T 8.236e-06 14:99406519 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 synonymous_variant 1.794673 0.97083 0.70788 0.706548 0.5902597 0 0.371891 FALSE 8.12665e-06 ENSE00001699399_011 ENSE00001699399 011 14 99872811 99872980 - 42 75 53 C T 99872861 1510 120 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTAGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406523 99406524 99406524 exon -9 0.8933333 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTAGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 97 158 0 0 0 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 -0.8508947 -0.8304464 NA NA 0.8406705 0.8150252 -0.8406705 NA NA NA TRUE 1 5.53 . missense_variant MODERATE SETD3 HGNC 20493 ENST00000331768 9/13 1 deleterious(0) probably_damaging(0.981) NA CCA C,T 8.236e-06 14:99406524 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 missense_variant 6.888596 0.98926 0.97277 0.706548 0.9992619 0 0.371891 FALSE 4.06312e-06 ENSE00001699399_012 ENSE00001699399 012 14 99872811 99872980 - 42 75 53 C T 99872866 1511 115 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCAGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406528 99406529 99406529 exon -14 0.8266667 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCAGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant NA NA NA NA NA 120 746 0.7824539 0.5844693 0.6834616 0.8508947 0.8304464 0.8485287 0.7815217 NA NA -0.06607482 -0.1970524 0.8406705 0.8150252 NA -0.1315636 NA FALSE NA 0.995 1.882 . missense_variant MODERATE SETD3 HGNC 20493 ENST00000331768 9/13 rs377382521 1 tolerated(0.22) benign(0) NA T:0 T:0.0001 CCG C,T 2.471e-05 14:99406529 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 missense_variant 3.921004 0.97543 0.51506 0.706548 0.9966321 0 0.371891 FALSE 2.84419e-05 ENSE00001699399_013 ENSE00001699399 013 14 99872811 99872980 - 42 75 53 G A 99872867 1512 114 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTTGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406529 99406530 99406530 exon -15 0.8133333 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTTGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 345 720 0 0 0 43 706 0.007074793 0.02069906 0.01388693 0.8508947 0.8304464 0.8485287 0.7815217 -0.8508947 -0.8304464 -0.8414539 -0.7608227 0.8406705 0.8150252 -0.8406705 -0.8011383 0.03953225 TRUE TRUE 1 4.253 . missense_variant MODERATE SETD3 HGNC 20493 ENST00000331768 9/13 1 deleterious(0) benign(0.09) NA CGA G,A 2.471e-05 14:99406530 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 missense_variant 5.371534 0.98202 0.97338 0.706548 0.9989985 0 0.371891 FALSE 2.8443e-05 ENSE00001699399_014 ENSE00001699399 014 14 99872811 99872980 - 42 75 53 A C 99872878 1513 103 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCGGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406540 99406541 99406541 exon -26 0.6666667 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCGGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 25 39 0.85 0.85 0.85 272 1301 0.8123697 0.8 0.8061848 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 -0.03615902 0.01847825 0.8406705 0.8150252 0.009329451 -0.008840383 0.01816983 FALSE FALSE 1 8.84 . missense_variant MODERATE SETD3 HGNC 20493 ENST00000331768 9/13 1 deleterious(0) possibly_damaging(0.872) NA CAG A,C 8.236e-06 14:99406541 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 missense_variant 6.513513 0.99357 0.99499 0.706548 0.9979326 0 0.371891 FALSE 4.0626e-06 ENSE00001699399_015 ENSE00001699399 015 14 99872811 99872980 - 42 75 53 C T 99872893 1514 88 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTATGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406555 99406556 99406556 exon 35 0.4666667 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTATGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant NA NA NA NA NA 595 401 0.8416354 0.8 0.8208177 0.8508947 0.8304464 0.8485287 0.7815217 NA NA -0.006893257 0.01847825 0.8406705 0.8150252 NA 0.005792497 NA FALSE NA 1 7.406 . missense_variant MODERATE SETD3 HGNC 20493 ENST00000331768 9/13 1 deleterious(0) probably_damaging(0.927) NA ACA C,T 8.236e-06 14:99406556 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 missense_variant 7.01079 0.99502 0.99169 0.706548 0.9981097 0 0.371891 FALSE 8.12361e-06 ENSE00001699399_017 ENSE00001699399 017 14 99872811 99872980 - 42 75 53 C G 99872917 1516 64 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGCTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406579 99406580 99406580 exon 11 0.1466667 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGCTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 38 46 0.85 0.85 0.85 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 NA NA 0.8406705 0.8150252 0.009329451 NA NA NA FALSE 1 7.406 . missense_variant MODERATE SETD3 HGNC 20493 ENST00000331768 9/13 1 tolerated(0.1) possibly_damaging(0.857) NA ACC C,G 8.236e-06 14:99406580 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 missense_variant 4.477573 0.99528 0.99359 0.706548 0.9965904 0 0.371891 FALSE 8.12506e-06 ENSE00001699399_019 ENSE00001699399 019 14 99872811 99872980 - 42 75 53 C T 99872934 1518 47 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCAGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406596 99406597 99406597 upstr_intron -7 -0.1132075 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCAGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 18 24 0.9995247 0.9995418 0.9995333 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 0.14863 0.1690954 NA NA 0.8406705 0.8150252 0.1588627 NA NA NA FALSE 0.001 -0.131 . splice_region_variant&intron_variant LOW SETD3 HGNC 20493 ENST00000331768 8/12 1 NA CCG C,T 8.236e-06 14:99406597 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 splice_region_variant 0.311365 0.21978 0.0944 0.099367 0.4650586 0.101122 0.371891 FALSE 8.13127e-06 ENSE00001699399_020 ENSE00001699399 020 14 99872811 99872980 - 42 75 53 G A 99872935 1519 46 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCTGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406597 99406598 99406598 upstr_intron -8 -0.1320755 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCTGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 229 274 0.85 0.85 0.85 387 900 0.6951875 0.8695738 0.7823806 0.8508947 0.8304464 0.8485287 0.7815217 -0.0008947027 0.01955361 -0.1533412 0.08805206 0.8406705 0.8150252 0.009329451 -0.03264459 0.04197404 FALSE FALSE 0 -0.688 NA NA NA SETD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:99406598 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 splice_region_variant -0.028996 0.12559 0.027 0.099367 0.4534191 0.0905899 0.371891 FALSE 3.65955e-05 ENSE00001699399_022 ENSE00001699399 022 14 99872811 99872980 - 42 75 53 G A 99872937 1521 44 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCTCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406599 99406600 99406600 upstr_intron -10 -0.1698113 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCTCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant NA NA NA NA NA 21 1193 0.8524147 0.8500263 0.8512205 0.8508947 0.8304464 0.8485287 0.7815217 NA NA 0.003886025 0.0685046 0.8406705 0.8150252 NA 0.03619531 NA FALSE NA 0 0.016 . intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 8/12 1 NA GGG G,A 8.236e-06 14:99406600 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant 0.172156 0.20366 0.12761 0.099367 0.5491111 0.0891076 0.371891 FALSE 4.06583e-06 ENSE00001699399_023 ENSE00001699399 023 14 99872811 99872980 - 42 75 53 G A 99872943 1522 38 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCTTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406605 99406606 99406606 upstr_intron -16 -0.2830189 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCTTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant NA NA NA NA NA 582 3922 0.9239052 0.9992787 0.9615919 0.8508947 0.8304464 0.8485287 0.7815217 NA NA 0.07537647 0.217757 0.8406705 0.8150252 NA 0.1465667 NA FALSE NA 0 0.196 . intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 8/12 1 NA AGG G,A 2.471e-05 14:99406606 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant -0.069838 0.14559 0.0024 0.099367 0.4038315 0.0838429 0.371891 FALSE 1.21996e-05 ENSE00001699399_024 ENSE00001699399 024 14 99872811 99872980 - 42 75 53 A G 99872945 1523 36 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTCCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406607 99406608 99406608 upstr_intron -18 -0.3207547 GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTCCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 145 61 0.0269644 0 0.0134822 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 -0.8239303 -0.8304464 NA NA 0.8406705 0.8150252 -0.8271884 NA NA NA TRUE 0 -0.134 . intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 8/12 1 NA GAA A,G 0.0001318 14:99406608 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant -0.199609 0.12998 0.01091 0.099367 0.3996963 0.046875 0.371891 FALSE 0.000101663 ENSE00001699399_025 ENSE00001699399 025 14 99872811 99872980 - 42 75 53 A T 99872950 1524 31 GAGATGTGCGTGTGTTTGCCTCACCATCATATCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406612 99406613 99406613 upstr_intron -23 -0.4150943 GAGATGTGCGTGTGTTTGCCTCACCATCATATCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 68 51 0 0.01280802 0.006404011 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 -0.8508947 -0.8176384 NA NA 0.8406705 0.8150252 -0.8342665 NA NA NA TRUE 0.004 -0.08 rs150253254 intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 8/12 rs150253254 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 AAA A,T 8.236e-06 14:99406613 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant 0.197873 0.32384 0.04252 0.099367 0.6243745 0.0798232 0.371891 FALSE NA ENSE00001699399_026 ENSE00001699399 026 14 99872811 99872980 - 42 75 53 G A 99872957 1525 24 GAGATGTGCGTGTGTTTGCCTCATCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406619 99406620 99406620 upstr_intron -30 -0.5471698 GAGATGTGCGTGTGTTTGCCTCATCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 132 230 0.8458363 0.8451751 0.8455057 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 -0.005058369 0.01472875 NA NA 0.8406705 0.8150252 0.004835191 NA NA NA FALSE 0 -0.748 . intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 8/12 1 NA GGT G,A 8.236e-06 14:99406620 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant 0.060798 0.11092 0.005 0.099367 0.5872674 0.0900942 0.371891 FALSE NA ENSE00001699399_027 ENSE00001699399 027 14 99872811 99872980 - 42 75 53 G A 99872961 1526 20 GAGATGTGCGTGTGTTTGCTTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406623 99406624 99406624 upstr_intron -34 -0.6226415 GAGATGTGCGTGTGTTTGCTTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 113 138 0.7789651 0.5885506 0.6837579 NA NA NA NA NA 0.8508947 0.8304464 0.8485287 0.7815217 -0.07192959 -0.2418958 NA NA 0.8406705 0.8150252 -0.1569127 NA NA NA FALSE 0 0.276 . intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 8/12 1 NA AGG G,A 1.647e-05 14:99406624 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant 0.140078 0.25639 0.07793 0.099367 0.7449331 0.0861861 0.371891 FALSE 8.15248e-06 ENSE00001699399_028 ENSE00001699399 028 14 99872811 99872980 - 42 75 53 C A 99872969 1527 12 GAGATGTGCGTTTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 99406631 99406632 99406632 upstr_intron -42 -0.7735849 GAGATGTGCGTTTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG mutant 168 88 0.8649641 0.8881465 0.8765553 231 48 0.8570732 0.8052403 0.8311567 0.8508947 0.8304464 0.8485287 0.7815217 0.01406935 0.0577001 0.008544465 0.02371857 0.8406705 0.8150252 0.03588472 0.01613152 0.01975321 FALSE FALSE 0 -0.518 . intron_variant MODIFIER SETD3 HGNC 20493 ENST00000331768 8/12 1 NA ACA C,A 8.236e-06 14:99406632 SETD3 HGNC Symbol protein_coding 83143 ENSG00000183576 ENSE00003668504 intron_variant 0.045405 0.11635 0.05119 0.099367 0.5598735 0.046875 0.371891 FALSE 1.22714e-05 ENSE00001699399_BRK ENSE00001699399 BRK 14 99872811 99872980 - 42 75 53 A,G; T,T NA NA NA GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTTTATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGCCGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG 99406473 99406643 NA NA NA NA NA NA GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTTTATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGCCGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG GAGATGTGCGTGTGTTTGCCTCACCATCATTTCCTTCCTCCTCCCCGGGCTAGATCACTACTGGTTACAACCTGGAAGATGACCGCTGTGAGTGTGTGGCTCTGCAGGATTTTCGGGCTGGAGAGCAGGTGGGTCTCGTGGCATCTCACAAAATGTGAGCCAGCCAGTGG control 162 361 0 0 0 852 544 0.006057346 0 0.003028673 0.8508947 0.8304464 0.8485287 0.7815217 -0.8508947 -0.8304464 -0.8424714 -0.7815217 0.8406705 0.8150252 -0.8406705 -0.8119966 0.02867399 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SETD3 NA NA NA ENSG00000183576 ENSE00003668504 NA NA NA NA NA NA NA 0.371891 FALSE NA ENSE00001699898_000 ENSE00001699898 000 15 41362626 41362795 - 39 81 50 NA NA NA NA NA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 NA NA NA NA NA NA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA natural 11 48 0.9755343 0.9621665 0.9688504 3400 1621 0.9622837 0.9060033 0.9341435 0.9755343 0.9621665 0.9622837 0.9060033 0 0 0 0 0.9688504 0.9341435 0 0 0 FALSE FALSE NA NA NA NA NA INO80 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA INO80 NA NA NA ENSG00000128908 ENSE00003481622 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001699898_003 ENSE00001699898 003 15 41362626 41362795 - 39 81 50 T G 41362643 551 153 TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTCTCTTCATTTCTCTAGAA 41070427 41070597 41070444 41070445 41070445 downstr_intron 22 1.578947 TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTCTCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 21 118 0.95 1 0.975 0.9755343 0.9621665 0.9622837 0.9060033 NA NA -0.01228368 0.09399673 0.9688504 0.9341435 NA 0.04085653 NA FALSE NA 0 -4.347 . intron_variant&NMD_transcript_variant MODIFIER INO80 HGNC 26956 ENST00000558357 13/34 1 NA ATA T,G 8.236e-06 15:41070445 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 intron_variant 0.24779 0.21357 0.02071 0.156188 0.6507933 0.0955184 1 TRUE 4.07309e-06 ENSE00001699898_007 ENSE00001699898 007 15 41362626 41362795 - 39 81 50 G A 41362713 555 83 TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGTCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 41070514 41070515 41070515 exon 33 0.4074074 TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGTCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 89 261 0.9857701 0.9944159 0.990093 0.9755343 0.9621665 0.9622837 0.9060033 NA NA 0.02348644 0.08841264 0.9688504 0.9341435 NA 0.05594954 NA FALSE NA 0.841 -0.011 . synonymous_variant&NMD_transcript_variant LOW INO80 HGNC 26956 ENST00000558357 13/35 1 NA GGC G,A 8.236e-06 15:41070515 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 synonymous_variant 1.322626 0.96318 0.72916 0.706548 0.7012074 0 1 TRUE 4.06134e-06 ENSE00001699898_008 ENSE00001699898 008 15 41362626 41362795 - 39 81 50 A G 41362752 556 44 TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTCCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 41070553 41070554 41070554 upstr_intron -7 -0.12 TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTCCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 53 33 1 1 1 0.9755343 0.9621665 0.9622837 0.9060033 NA NA 0.03771632 0.09399673 0.9688504 0.9341435 NA 0.06585653 NA FALSE NA 0 0.075 . splice_region_variant&intron_variant&NMD_transcript_variant LOW INO80 HGNC 26956 ENST00000558357 12/34 rs555960104 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GAA A,G 9.888e-05 15:41070554 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 splice_region_variant -0.523934 0.20884 0.11777 0.062308 0.3949057 0.13346 1 TRUE 9.40795e-05 ENSE00001699898_009 ENSE00001699898 009 15 41362626 41362795 - 39 81 50 T A 41362760 557 36 TTTATTTGATGAAATGCATGAGGTGTTGACCATGTTTTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 41070561 41070562 41070562 upstr_intron -15 -0.28 TTTATTTGATGAAATGCATGAGGTGTTGACCATGTTTTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 178 23 1 0.9930607 0.9965304 0.9755343 0.9621665 0.9622837 0.9060033 NA NA 0.03771632 0.08705745 0.9688504 0.9341435 NA 0.06238689 NA FALSE NA 0 -5.568 . intron_variant&NMD_transcript_variant MODIFIER INO80 HGNC 26956 ENST00000558357 12/34 1 NA ATA T,A 8.236e-06 15:41070562 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 intron_variant 0.200619 0.20663 0.01898 0.062308 0.4689496 0.0954646 1 TRUE 4.06293e-06 ENSE00001699898_012 ENSE00001699898 012 15 41362626 41362795 - 39 81 50 G C 41362765 560 31 TTTATTTGATGAAATGCATGAGGTGTTGACGATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 41070566 41070567 41070567 upstr_intron -20 -0.38 TTTATTTGATGAAATGCATGAGGTGTTGACGATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 270 124 0.9504029 1 0.9752015 0.9755343 0.9621665 0.9622837 0.9060033 NA NA -0.01188077 0.09399673 0.9688504 0.9341435 NA 0.04105798 NA FALSE NA 0 -0.137 NA NA NA INO80 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:41070567 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 intron_variant -0.17744 0.20237 0.13092 0.062308 0.5594322 0.0954646 1 TRUE NA ENSE00001699898_013 ENSE00001699898 013 15 41362626 41362795 - 39 81 50 C T 41362771 561 25 TTTATTTGATGAAATGCATGAGGTATTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 41070572 41070573 41070573 upstr_intron -26 -0.5 TTTATTTGATGAAATGCATGAGGTATTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 562 144 0.906179 0.9715081 0.9388436 0.9755343 0.9621665 0.9622837 0.9060033 NA NA -0.05610463 0.06550484 0.9688504 0.9341435 NA 0.004700105 NA FALSE NA 0 -0.72 . intron_variant&NMD_transcript_variant MODIFIER INO80 HGNC 26956 ENST00000558357 12/34 1 NA ACA C,T 1.647e-05 15:41070573 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 intron_variant 0.07572 0.17144 0.01313 0.062308 0.5702662 0.0954646 1 TRUE 8.14571e-06 ENSE00001699898_014 ENSE00001699898 014 15 41362626 41362795 - 39 81 50 T A 41362775 562 21 TTTATTTGATGAAATGCATGTGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 41070576 41070577 41070577 upstr_intron -30 -0.58 TTTATTTGATGAAATGCATGTGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 65 203 1 1 1 0.9755343 0.9621665 0.9622837 0.9060033 NA NA 0.03771632 0.09399673 0.9688504 0.9341435 NA 0.06585653 NA FALSE NA 0 0.151 . intron_variant&NMD_transcript_variant MODIFIER INO80 HGNC 26956 ENST00000558357 12/34 1 NA CTC T,A 8.236e-06 15:41070577 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 intron_variant 0.40959 0.23985 0.01959 0.062308 0.6954166 0.089025 1 TRUE 4.08991e-06 ENSE00001699898_017 ENSE00001699898 017 15 41362626 41362795 - 39 81 50 C A 41362780 565 16 TTTATTTGATGAAATTCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 41070581 41070582 41070582 upstr_intron -35 -0.68 TTTATTTGATGAAATTCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 253 62 1 1 1 0.9755343 0.9621665 0.9622837 0.9060033 NA NA 0.03771632 0.09399673 0.9688504 0.9341435 NA 0.06585653 NA FALSE NA 0 -0.8 . intron_variant&NMD_transcript_variant MODIFIER INO80 HGNC 26956 ENST00000558357 12/34 1 NA GCA C,A 1.647e-05 15:41070582 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 intron_variant 0.193426 0.26234 0.1178 0.062308 0.3762818 0.0526402 1 TRUE 3.27295e-05 ENSE00001699898_018 ENSE00001699898 018 15 41362626 41362795 - 39 81 50 T C 41362782 566 14 TTTATTTGATGAAGTGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 41070583 41070584 41070584 upstr_intron -37 -0.72 TTTATTTGATGAAGTGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA mutant NA NA NA NA NA 386 471 0.9966473 1 0.9983237 0.9755343 0.9621665 0.9622837 0.9060033 NA NA 0.03436363 0.09399673 0.9688504 0.9341435 NA 0.06418018 NA FALSE NA 0 0.134 . intron_variant&NMD_transcript_variant MODIFIER INO80 HGNC 26956 ENST00000558357 12/34 1 NA ATT T,C 1.647e-05 15:41070584 INO80 HGNC Symbol protein_coding 137474 ENSG00000128908 ENSE00003481622 intron_variant 0.099417 0.21373 0.16362 0.062308 0.4457087 0.0526402 1 TRUE 3.27839e-05 ENSE00001699898_BRK ENSE00001699898 BRK 15 41362626 41362795 - 39 81 50 A,G; T,T NA NA NA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCTTGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGCCGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA 41070427 41070597 NA NA NA NA NA NA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCTTGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGCCGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA TTTATTTGATGAAATGCATGAGGTGTTGACCATGTATTTTTTTTCCCCAGGGTATTAATGGCATTCTTGCTGATGAAATGGGCCTTGGTAAAACAGTACAGAGCATTGCCCTTCTGGCCCATCTGGCTGAGGTGGGTAGATGCAATCTTTCTATCTTCATTTCTCTAGAA control 17 23 0 0 0 NA NA NA NA NA 0.9755343 0.9621665 0.9622837 0.9060033 -0.9755343 -0.9621665 NA NA 0.9688504 0.9341435 -0.9688504 NA NA NA TRUE NA NA NA NA NA INO80 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA INO80 NA NA NA ENSG00000128908 ENSE00003481622 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001700147_000 ENSE00001700147 000 15 52487535 52487704 - 39 81 50 NA NA NA NA NA CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT 52195337 52195507 NA NA NA NA NA NA CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT natural 27 21 0.9917511 0.981206 0.9864786 953 842 0.9927415 0.8232852 0.9080134 0.9917511 0.981206 0.9927415 0.8232852 0 0 0 0 0.9864786 0.9080134 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO5C NA NA NA ENSG00000128833 ENSE00003618176 NA NA NA NA NA NA NA 4.348722e-18 FALSE NA ENSE00001700621_000 ENSE00001700621 000 15 72953558 72953727 + 47 87 36 NA NA NA NA NA TCTTCCTTCCACATCCCTCCCTCTGCAAAGCCTCACCTGTGTCACGTGTGCGTTCAGCAGCGCCCGCTCCTTTATGGTCTGCTGTAACCGCCGGTGGAGGACCGCTTCTCTGCAGCTCGAGGACTGGATGGTGAAGAGTGAGAAGTTTTGATCTGGGGAGCTCAGGCAGT 72661216 72661386 NA NA NA NA NA NA ACTGCCTGAGCTCCCCAGATCAAAACTTCTCACTCTTCACCATCCAGTCCTCGAGCTGCAGAGAAGCGGTCCTCCACCGGCGGTTACAGCAGACCATAAAGGAGCGGGCGCTGCTGAACGCACACGTGACACAGGTGAGGCTTTGCAGAGGGAGGGATGTGGAAGGAAGA ACTGCCTGAGCTCCCCAGATCAAAACTTCTCACTCTTCACCATCCAGTCCTCGAGCTGCAGAGAAGCGGTCCTCCACCGGCGGTTACAGCAGACCATAAAGGAGCGGGCGCTGCTGAACGCACACGTGACACAGGTGAGGCTTTGCAGAGGGAGGGATGTGGAAGGAAGA natural NA NA NA NA NA 921 2673 0.9963127 0.975862 0.9860874 NA NA 0.9963127 0.975862 NA NA 0 0 NA 0.9860874 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00002498230 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001700964_000 ENSE00001700964 000 X 149630985 149631154 + 53 75 42 NA NA NA NA NA TGTAAAGTGAATGGGTCCCAGCTTTGGTAAGCTTATGCTTACCTGATGCTTTCTTCCTGGGCTGCTCTTGTAGAGAAAAGATAAATCTTCTTCCTCCATCCACGAGGGCTTCTTTCCCTGGGGGTGAGAGTAGGCTGAGGAGAGCCACTTGCACACACTCTTAAAGAAAG 150462718 150462888 NA NA NA NA NA NA CTTTCTTTAAGAGTGTGTGCAAGTGGCTCTCCTCAGCCTACTCTCACCCCCAGGGAAAGAAGCCCTCGTGGATGGAGGAAGAAGATTTATCTTTTCTCTACAAGAGCAGCCCAGGAAGAAAGCATCAGGTAAGCATAAGCTTACCAAAGCTGGGACCCATTCACTTTACA CTTTCTTTAAGAGTGTGTGCAAGTGGCTCTCCTCAGCCTACTCTCACCCCCAGGGAAAGAAGCCCTCGTGGATGGAGGAAGAAGATTTATCTTTTCTCTACAAGAGCAGCCCAGGAAGAAAGCATCAGGTAAGCATAAGCTTACCAAAGCTGGGACCCATTCACTTTACA natural 25 20 0.9845501 0.9651537 0.9748519 2100 3040 0.8827207 0.9563579 0.9195393 0.9845501 0.9651537 0.8827207 0.9563579 0 0 0 0 0.9748519 0.9195393 0 0 0 FALSE FALSE NA NA NA NA NA MAMLD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAMLD1 NA NA NA ENSG00000013619 ENSE00001700964 NA NA NA NA NA NA NA 0.8401095 FALSE NA ENSE00001700964_002 ENSE00001700964 002 X 149630985 149631154 + 53 75 42 G A 149631059 1061 75 TGTAAAGTGAATGGGTCCCAGCTTTGGTAAGCTTATGCTTACCTGATGCTTTCTTCCTGGGCTGCTCTTGTAGAGAAAAGATAAATCTTCTTCCTTCATCCACGAGGGCTTCTTTCCCTGGGGGTGAGAGTAGGCTGAGGAGAGCCACTTGCACACACTCTTAAAGAAAG 150462718 150462888 150462792 150462793 150462793 exon 22 0.2933333 CTTTCTTTAAGAGTGTGTGCAAGTGGCTCTCCTCAGCCTACTCTCACCCCCAGGGAAAGAAGCCCTCGTGGATGAAGGAAGAAGATTTATCTTTTCTCTACAAGAGCAGCCCAGGAAGAAAGCATCAGGTAAGCATAAGCTTACCAAAGCTGGGACCCATTCACTTTACA CTTTCTTTAAGAGTGTGTGCAAGTGGCTCTCCTCAGCCTACTCTCACCCCCAGGGAAAGAAGCCCTCGTGGATGGAGGAAGAAGATTTATCTTTTCTCTACAAGAGCAGCCCAGGAAGAAAGCATCAGGTAAGCATAAGCTTACCAAAGCTGGGACCCATTCACTTTACA mutant NA NA NA NA NA 151 1080 1 0.9947848 0.9973924 0.9845501 0.9651537 0.8827207 0.9563579 NA NA 0.1172793 0.03842691 0.9748519 0.9195393 NA 0.0778531 NA FALSE NA 0 -0.388 . intron_variant MODIFIER MAMLD1 HGNC 2568 ENST00000426613 1/5 1 NA GGA G,A 8.274e-06 X:150462793 MAMLD1 HGNC Symbol protein_coding 152756 ENSG00000013619 ENSE00001700964 missense_variant -0.256811 0.07289 0.00364 0 0.9871226 0 0.8401095 FALSE 5.5982e-06 ENSE00001700964_004 ENSE00001700964 004 X 149630985 149631154 + 53 75 42 C G 149631082 1063 98 TGTAAAGTGAATGGGTCCCAGCTTTGGTAAGCTTATGCTTACCTGATGCTTTCTTCCTGGGCTGCTCTTGTACAGAAAAGATAAATCTTCTTCCTCCATCCACGAGGGCTTCTTTCCCTGGGGGTGAGAGTAGGCTGAGGAGAGCCACTTGCACACACTCTTAAAGAAAG 150462718 150462888 150462815 150462816 150462816 exon -31 0.6 CTTTCTTTAAGAGTGTGTGCAAGTGGCTCTCCTCAGCCTACTCTCACCCCCAGGGAAAGAAGCCCTCGTGGATGGAGGAAGAAGATTTATCTTTTCTGTACAAGAGCAGCCCAGGAAGAAAGCATCAGGTAAGCATAAGCTTACCAAAGCTGGGACCCATTCACTTTACA CTTTCTTTAAGAGTGTGTGCAAGTGGCTCTCCTCAGCCTACTCTCACCCCCAGGGAAAGAAGCCCTCGTGGATGGAGGAAGAAGATTTATCTTTTCTCTACAAGAGCAGCCCAGGAAGAAAGCATCAGGTAAGCATAAGCTTACCAAAGCTGGGACCCATTCACTTTACA mutant NA NA NA NA NA 22 104 1 0.9966371 0.9983186 0.9845501 0.9651537 0.8827207 0.9563579 NA NA 0.1172793 0.04027925 0.9748519 0.9195393 NA 0.07877927 NA FALSE NA 0.017 0.939 . intron_variant MODIFIER MAMLD1 HGNC 2568 ENST00000426613 1/5 1 NA TCT C,G 4.138e-05 X:150462816 MAMLD1 HGNC Symbol protein_coding 152756 ENSG00000013619 ENSE00001700964 synonymous_variant -0.174468 0.10145 0.01308 0 0.5605632 0 0.8401095 FALSE 3.92163e-05 ENSE00001701085_000 ENSE00001701085 000 7 7559640 7559809 - 53 54 63 NA NA NA NA NA AAAAGTCTAGAAGGAGATACGCTGGTTTAAAGAAAAGCTGTTTATTCATTTACCGGGTTTCCTTTTGGTCCTCGCTCACCTTTGATACCTGGATTTCCATGTGTACCCTGAAGGCAAAGGGAAAAAATATTATTTTAAGTAGGAATTCTATTGTTTTCTATACTTTATAA 7520008 7520178 NA NA NA NA NA NA TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT natural NA NA NA NA NA 1350 2330 0.8954425 0.9320907 0.9137666 NA NA 0.8954425 0.9320907 NA NA 0 0 NA 0.9137666 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00001701085 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001701085_002 ENSE00001701085 002 7 7559640 7559809 - 53 54 63 G C 7559655 614 155 AAAAGTCTAGAAGGACATACGCTGGTTTAAAGAAAAGCTGTTTATTCATTTACCGGGTTTCCTTTTGGTCCTCGCTCACCTTTGATACCTGGATTTCCATGTGTACCCTGAAGGCAAAGGGAAAAAATATTATTTTAAGTAGGAATTCTATTGTTTTCTATACTTTATAA 7520008 7520178 7520023 7520024 7520024 downstr_intron 38 1.730769 TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATGTCCTTCTAGACTTTT TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT mutant NA NA NA NA NA 56 34 1 0.9519144 0.9759572 NA NA 0.8954425 0.9320907 NA NA 0.1045575 0.01982375 NA 0.9137666 NA 0.06219064 NA FALSE NA 0 -0.172 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7520024 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001701085 intron_variant -0.46135 0.13468 0.03693 0.053691 0.4306847 0.0436289 1.893035e-20 FALSE 2.62858e-05 ENSE00001701085_006 ENSE00001701085 006 7 7559640 7559809 - 53 54 63 T C 7559665 618 145 AAAAGTCTAGAAGGAGATACGCTGGCTTAAAGAAAAGCTGTTTATTCATTTACCGGGTTTCCTTTTGGTCCTCGCTCACCTTTGATACCTGGATTTCCATGTGTACCCTGAAGGCAAAGGGAAAAAATATTATTTTAAGTAGGAATTCTATTGTTTTCTATACTTTATAA 7520008 7520178 7520033 7520034 7520034 downstr_intron 28 1.538462 TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAGCCAGCGTATCTCCTTCTAGACTTTT TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT mutant NA NA NA NA NA 232 47 1 1 1 NA NA 0.8954425 0.9320907 NA NA 0.1045575 0.06790932 NA 0.9137666 NA 0.08623343 NA FALSE NA 0.392 0.308 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 6/34 1 NA GTT T,C 8.28e-06 7:7520034 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001701085 intron_variant 0.243316 0.30453 0.3209 0.053691 0.5188037 0.530634 1.893035e-20 FALSE 4.26083e-06 ENSE00001701085_007 ENSE00001701085 007 7 7559640 7559809 - 53 54 63 A G 7559674 619 136 AAAAGTCTAGAAGGAGATACGCTGGTTTAAAGAAGAGCTGTTTATTCATTTACCGGGTTTCCTTTTGGTCCTCGCTCACCTTTGATACCTGGATTTCCATGTGTACCCTGAAGGCAAAGGGAAAAAATATTATTTTAAGTAGGAATTCTATTGTTTTCTATACTTTATAA 7520008 7520178 7520042 7520043 7520043 downstr_intron 19 1.365385 TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTCTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT mutant NA NA NA NA NA 787 1815 0.9991076 0.9740799 0.9865938 NA NA 0.8954425 0.9320907 NA NA 0.1036652 0.04198926 NA 0.9137666 NA 0.07282722 NA FALSE NA 0.019 2.352 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 6/34 1 NA AAA A,G 8.28e-06 7:7520043 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001701085 intron_variant 0.532368 0.32664 0.17084 0.053691 0.6360561 0.639664 1.893035e-20 FALSE 4.19481e-06 ENSE00001701085_015 ENSE00001701085 015 7 7559640 7559809 - 53 54 63 T C 7559702 627 108 AAAAGTCTAGAAGGAGATACGCTGGTTTAAAGAAAAGCTGTTTATTCATTTACCGGGTTTCCCTTTGGTCCTCGCTCACCTTTGATACCTGGATTTCCATGTGTACCCTGAAGGCAAAGGGAAAAAATATTATTTTAAGTAGGAATTCTATTGTTTTCTATACTTTATAA 7520008 7520178 7520070 7520071 7520071 exon -10 0.8333333 TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAGGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT mutant NA NA NA NA NA 110 23 0.9898483 0.8420513 0.9159498 NA NA 0.8954425 0.9320907 NA NA 0.09440585 -0.09003942 NA 0.9137666 NA 0.002183215 NA FALSE NA 1 3.234 . synonymous_variant LOW COL28A1 HGNC 22442 ENST00000399429 6/35 rs371068083 1 NA C:0.0003 C:0 CTT T,C 4.14e-05 7:7520071 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001701085 synonymous_variant 0.184231 0.97259 0.78995 0.487112 0.639815 0 1.893035e-20 FALSE 2.45604e-05 ENSE00001701085_019 ENSE00001701085 019 7 7559640 7559809 - 53 54 63 T C 7559722 631 88 AAAAGTCTAGAAGGAGATACGCTGGTTTAAAGAAAAGCTGTTTATTCATTTACCGGGTTTCCTTTTGGTCCTCGCTCACCTTCGATACCTGGATTTCCATGTGTACCCTGAAGGCAAAGGGAAAAAATATTATTTTAAGTAGGAATTCTATTGTTTTCTATACTTTATAA 7520008 7520178 7520090 7520091 7520091 exon 25 0.462963 TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCGAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT mutant NA NA NA NA NA 49 1078 1 0.9962928 0.9981464 NA NA 0.8954425 0.9320907 NA NA 0.1045575 0.06420215 NA 0.9137666 NA 0.08437984 NA FALSE NA 1 3.234 . missense_variant MODERATE COL28A1 HGNC 22442 ENST00000399429 6/35 1 tolerated(0.22) probably_damaging(0.989) NA TTG T,C 1.656e-05 7:7520091 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001701085 missense_variant 3.34198 0.97259 0.78995 0.487112 0.9987035 0 1.893035e-20 FALSE 8.16567e-06 ENSE00001701085_025 ENSE00001701085 025 7 7559640 7559809 - 53 54 63 C A 7559797 637 13 AAAAGTCTAGAAGGAGATACGCTGGTTTAAAGAAAAGCTGTTTATTCATTTACCGGGTTTCCTTTTGGTCCTCGCTCACCTTTGATACCTGGATTTCCATGTGTACCCTGAAGGCAAAGGGAAAAAATATTATTTTAAGTAGGAATTCTATTGTTTTATATACTTTATAA 7520008 7520178 7520165 7520166 7520166 upstr_intron -51 -0.7936508 TTATAAAGTATATAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT TTATAAAGTATAGAAAACAATAGAATTCCTACTTAAAATAATATTTTTTCCCTTTGCCTTCAGGGTACACATGGAAATCCAGGTATCAAAGGTGAGCGAGGACCAAAAGGAAACCCGGTAAATGAATAAACAGCTTTTCTTTAAACCAGCGTATCTCCTTCTAGACTTTT mutant NA NA NA NA NA 66 22 1 1 1 NA NA 0.8954425 0.9320907 NA NA 0.1045575 0.06790932 NA 0.9137666 NA 0.08623343 NA FALSE NA 0 -0.367 . intron_variant MODIFIER COL28A1 HGNC 22442 ENST00000399429 5/34 1 NA TCT C,A 8.327e-06 7:7520166 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00001701085 intron_variant 0.493796 0.16529 0.06976 0.053691 0.7023609 0.212132 1.893035e-20 FALSE NA ENSE00001701138_000 ENSE00001701138 000 1 109238268 109238437 + 56 69 45 NA NA NA NA NA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 NA NA NA NA NA NA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA natural NA NA NA NA NA 3500 2110 0.9576728 0.995662 0.9766674 NA NA 0.9576728 0.995662 NA NA 0 0 NA 0.9766674 NA 0 NA FALSE NA NA NA NA NA NA PRPF38B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRPF38B NA NA NA ENSG00000134186 ENSE00003579163 NA NA NA NA NA NA NA 0.9909081 TRUE NA ENSE00001701138_002 ENSE00001701138 002 1 109238268 109238437 + 56 69 45 A G 109238288 2999 21 CTTTTAAACAAATTCAAAGTGTGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695665 108695666 108695666 upstr_intron -36 -0.625 CTTTTAAACAAATTCAAAGTGTGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 838 371 1 1 1 NA NA 0.9576728 0.995662 NA NA 0.04232724 0.004337963 NA 0.9766674 NA 0.0233326 NA FALSE NA 0.058 0.263 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA TAT A,G 4.942e-05 1:108695666 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 1.189963 0.68915 0.1829 0.12324 0.5346535 0.362458 0.9909081 TRUE 3.73023e-05 ENSE00001701138_003 ENSE00001701138 003 1 109238268 109238437 + 56 69 45 T C 109238293 3000 26 CTTTTAAACAAATTCAAAGTATGAACGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695670 108695671 108695671 upstr_intron -31 -0.5357143 CTTTTAAACAAATTCAAAGTATGAACGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 375 276 0.9900438 1 0.9950219 NA NA 0.9576728 0.995662 NA NA 0.03237106 0.004337963 NA 0.9766674 NA 0.01835451 NA FALSE NA 1 1.429 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA ATG T,C 8.237e-06 1:108695671 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 1.521731 0.96582 0.85566 0.12324 0.5524138 0.602635 0.9909081 TRUE 4.10614e-06 ENSE00001701138_004 ENSE00001701138 004 1 109238268 109238437 + 56 69 45 T C 109238295 3001 28 CTTTTAAACAAATTCAAAGTATGAATGCTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695672 108695673 108695673 upstr_intron -29 -0.5 CTTTTAAACAAATTCAAAGTATGAATGCTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 294 1241 1 0.9997497 0.9998748 NA NA 0.9576728 0.995662 NA NA 0.04232724 0.004087625 NA 0.9766674 NA 0.02320743 NA FALSE NA 1 3.584 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA GTT T,C 8.237e-06 1:108695673 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 1.747349 0.96949 0.96502 0.12324 0.5840092 0.538714 0.9909081 TRUE 4.10018e-06 ENSE00001701138_005 ENSE00001701138 005 1 109238268 109238437 + 56 69 45 T A 109238299 3002 32 CTTTTAAACAAATTCAAAGTATGAATGTTTGATGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695676 108695677 108695677 upstr_intron -25 -0.4285714 CTTTTAAACAAATTCAAAGTATGAATGTTTGATGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 950 297 0.9994355 0.9994671 0.9994513 NA NA 0.9576728 0.995662 NA NA 0.04176273 0.003805091 NA 0.9766674 NA 0.02278391 NA FALSE NA 1 2.876 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA GTT T,A 1.647e-05 1:108695677 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 2.463944 0.98247 0.94874 0.12324 0.775833 0.968206 0.9909081 TRUE 1.22618e-05 ENSE00001701138_006 ENSE00001701138 006 1 109238268 109238437 + 56 69 45 T C 109238311 3003 44 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTCTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695688 108695689 108695689 upstr_intron -13 -0.2142857 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTCTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 200 1333 0.9992329 0.9984543 0.9988436 NA NA 0.9576728 0.995662 NA NA 0.04156016 0.002792255 NA 0.9766674 NA 0.02217621 NA FALSE NA 1 2.965 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA TTT T,C 2.471e-05 1:108695689 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 2.02215 0.93063 0.59512 0.12324 0.7519489 0.877114 0.9909081 TRUE 4.0707e-05 ENSE00001701138_007 ENSE00001701138 007 1 109238268 109238437 + 56 69 45 C G 109238314 3004 47 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTGTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695691 108695692 108695692 upstr_intron -10 -0.1607143 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTGTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 748 1007 0.9987685 0.9973059 0.9980372 NA NA 0.9576728 0.995662 NA NA 0.04109576 0.001643895 NA 0.9766674 NA 0.02136983 NA FALSE NA 0 0.013 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 rs368061409 1 NA G:0 G:0.0003 TCT C,G 4.118e-05 1:108695692 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 2.002897 0.71416 0.71475 0.12324 0.7300064 0.578338 0.9909081 TRUE 2.44234e-05 ENSE00001701138_008 ENSE00001701138 008 1 109238268 109238437 + 56 69 45 A G 109238316 3005 49 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTGTTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695693 108695694 108695694 upstr_intron -8 -0.125 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTGTTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 816 52 0.9999496 0.9748597 0.9874046 NA NA 0.9576728 0.995662 NA NA 0.0422768 -0.02080234 NA 0.9766674 NA 0.01073723 NA FALSE NA 0.992 0.262 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA TAT A,G 8.236e-06 1:108695694 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 splice_region_variant 1.341183 0.93751 0.79372 0.12324 0.857458 0.580929 0.9909081 TRUE 8.13484e-06 ENSE00001701138_009 ENSE00001701138 009 1 109238268 109238437 + 56 69 45 T C 109238317 3006 50 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTACTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695694 108695695 108695695 upstr_intron -7 -0.1071429 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTACTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 98 582 1 0.9972728 0.9986364 NA NA 0.9576728 0.995662 NA NA 0.04232724 0.001610777 NA 0.9766674 NA 0.02196901 NA FALSE NA 0.996 0.603 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA ATT T,C 8.236e-06 1:108695695 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 splice_region_variant 1.240506 0.97103 0.60644 0.184171 0.8621518 0.878859 0.9909081 TRUE 4.06676e-06 ENSE00001701138_010 ENSE00001701138 010 1 109238268 109238437 + 56 69 45 G A 109238329 3007 62 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACACACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695706 108695707 108695707 exon 6 0.08695652 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACACACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 130 348 1 0.9952149 0.9976074 NA NA 0.9576728 0.995662 NA NA 0.04232724 -0.0004471497 NA 0.9766674 NA 0.02094005 NA FALSE NA 0.005 -1.178 rs140358618 upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 rs140358618&COSM1332310 1 A:0.0054 A:0.0197 A:0.0014 NA A:0 A:0 A:0 A:0.0177 A:0.0001 CGC G,A 0.001861 1:108695707 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 synonymous_variant 1.399164 0.1327 0.05149 0.722319 0.763986 0 0.9909081 TRUE 0.00154798 ENSE00001701138_011 ENSE00001701138 011 1 109238268 109238437 + 56 69 45 C T 109238332 3008 65 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCATGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695709 108695710 108695710 exon 9 0.1304348 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCATGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 897 193 1 1 1 NA NA 0.9576728 0.995662 NA NA 0.04232724 0.004337963 NA 0.9766674 NA 0.0233326 NA FALSE NA 1 0.75 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 rs201667827 1 NA T:0 T:0.0001 ACG C,T 8.236e-06 1:108695710 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 synonymous_variant 1.764725 0.96179 0.50213 0.722319 0.6739058 0 0.9909081 TRUE 8.12486e-06 ENSE00001701138_012 ENSE00001701138 012 1 109238268 109238437 + 56 69 45 G A 109238333 3009 66 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACATTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695710 108695711 108695711 exon 10 0.1449275 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACATTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 238 11 0.9907742 1 0.9953871 NA NA 0.9576728 0.995662 NA NA 0.03310149 0.004337963 NA 0.9766674 NA 0.01871973 NA FALSE NA 1 3.696 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA CGT G,A 1.647e-05 1:108695711 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 missense_variant 3.337629 0.98688 0.95146 0.722319 0.9973356 0 0.9909081 TRUE 2.0312e-05 ENSE00001701138_013 ENSE00001701138 013 1 109238268 109238437 + 56 69 45 A G 109238350 3010 83 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAGGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695727 108695728 108695728 exon 27 0.3913043 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAGGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 191 171 1 1 1 NA NA 0.9576728 0.995662 NA NA 0.04232724 0.004337963 NA 0.9766674 NA 0.0233326 NA FALSE NA 1 3.217 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA AAG A,G 8.236e-06 1:108695728 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 synonymous_variant 0.408138 0.98302 0.92659 0.722319 0.643548 0 0.9909081 TRUE 4.06144e-06 ENSE00001701138_014 ENSE00001701138 014 1 109238268 109238437 + 56 69 45 G A 109238368 3011 101 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCAGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695745 108695746 108695746 exon -25 0.6521739 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCAGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 124 909 1 0.9687401 0.9843701 NA NA 0.9576728 0.995662 NA NA 0.04232724 -0.02692191 NA 0.9766674 NA 0.007702667 NA FALSE NA 0.109 -0.346 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 rs373088534&COSM4020213 1 NA CGG G,A 3.295e-05 1:108695746 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 synonymous_variant 1.537154 0.18808 0.06988 0.722319 0.7730525 0 0.9909081 TRUE 2.43675e-05 ENSE00001701138_015 ENSE00001701138 015 1 109238268 109238437 + 56 69 45 C T 109238386 3012 119 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGTGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695763 108695764 108695764 exon -7 0.9130435 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGTGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 256 294 1 0.9956106 0.9978053 NA NA 0.9576728 0.995662 NA NA 0.04232724 -5.138738e-05 NA 0.9766674 NA 0.02113793 NA FALSE NA 1 6.077 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA GCG C,T 8.236e-06 1:108695764 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 synonymous_variant 2.243144 0.99037 0.96313 0.722319 0.7212252 0 0.9909081 TRUE 1.62505e-05 ENSE00001701138_016 ENSE00001701138 016 1 109238268 109238437 + 56 69 45 C T 109238406 3013 139 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTATGTGCATTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695783 108695784 108695784 downstr_intron 14 1.318182 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTATGTGCATTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 275 482 0.9938126 0.9998419 0.9968273 NA NA 0.9576728 0.995662 NA NA 0.03613988 0.004179895 NA 0.9766674 NA 0.02015989 NA FALSE NA 1 6.069 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA ACG C,T 8.236e-06 1:108695784 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 2.54703 0.99028 0.9698 0.156188 0.8227945 0.985021 0.9909081 TRUE 2.04267e-05 ENSE00001701138_018 ENSE00001701138 018 1 109238268 109238437 + 56 69 45 T C 109238412 3015 145 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCACTTTTCAGTTTTTCTGTGTCTAATAA 108695645 108695815 108695789 108695790 108695790 downstr_intron 20 1.454545 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCACTTTTCAGTTTTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 635 842 0.995777 0.9715672 0.9836721 NA NA 0.9576728 0.995662 NA NA 0.03810421 -0.02409488 NA 0.9766674 NA 0.007004663 NA FALSE NA 1 3.908 rs183393363 upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 rs183393363 1 C:0.0010 C:0 C:0 NA C:0.004 C:0 C:0.001 ATT T,C 0.0002306 1:108695790 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 1.485521 0.97942 0.9398 0.080442 0.7917885 0.456711 0.9909081 TRUE 0.000250055 ENSE00001701138_019 ENSE00001701138 019 1 109238268 109238437 + 56 69 45 T C 109238422 3016 155 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTCTTCTGTGTCTAATAA 108695645 108695815 108695799 108695800 108695800 downstr_intron 30 1.681818 CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTCTTCTGTGTCTAATAA CTTTTAAACAAATTCAAAGTATGAATGTTTGTTGTGTTCCTCTTTTCTATTTTCAGGTCACGCACGTTGAACCATGGGAGAAAGGAAGCAGGAAAACAGCGGGCCAGACAGGGATGTGCGGAGGGGTAAGTAGAAGTACGTGCATTTTTCAGTTTTTCTGTGTCTAATAA mutant NA NA NA NA NA 161 151 1 1 1 NA NA 0.9576728 0.995662 NA NA 0.04232724 0.004337963 NA 0.9766674 NA 0.0233326 NA FALSE NA 1 3.964 . upstream_gene_variant MODIFIER PRPF38B HGNC 25512 ENST00000485810 1 NA TTT T,C 8.237e-06 1:108695800 PRPF38B HGNC Symbol protein_coding 9480 ENSG00000134186 ENSE00003579163 intron_variant 0.958657 0.98477 0.98303 0.080442 0.5813306 0.828711 0.9909081 TRUE 4.12194e-06 ENSE00001702657_000 ENSE00001702657 000 10 82264419 82264588 + 65 51 54 NA NA NA NA NA TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 NA NA NA NA NA NA TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT natural 15 21 1 0.9864181 0.9932091 1654 755 0.9262211 0.907151 0.9166861 1 0.9864181 0.9262211 0.907151 0 0 0 0 0.9932091 0.9166861 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN14 NA NA NA ENSG00000108219 ENSE00003484216 NA NA NA NA NA NA NA 0.8630695 FALSE NA ENSE00001702657_002 ENSE00001702657 002 10 82264419 82264588 + 65 51 54 G C 82264436 1800 18 TGAAGCATGTTCACAGTCCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504679 80504680 80504680 upstr_intron -48 -0.7230769 TGAAGCATGTTCACAGTCCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 86 628 1 1 1 1 0.9864181 0.9262211 0.907151 NA NA 0.07377889 0.09284899 0.9932091 0.9166861 NA 0.08331394 NA FALSE NA 0 0.338 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN14 HGNC 23303 ENST00000469149 2/4 1 NA TGC G,C 8.236e-06 10:80504680 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 intron_variant 0.134016 0.54325 0.1454 0.156188 0.7582813 0.686276 0.8630695 FALSE 4.06531e-06 ENSE00001702657_003 ENSE00001702657 003 10 82264419 82264588 + 65 51 54 C T 82264444 1801 26 TGAAGCATGTTCACAGTGCTGGTTTTCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504687 80504688 80504688 upstr_intron -40 -0.6 TGAAGCATGTTCACAGTGCTGGTTTTCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 84 1650 1 0.9996996 0.9998498 1 0.9864181 0.9262211 0.907151 NA NA 0.07377889 0.09254859 0.9932091 0.9166861 NA 0.08316374 NA FALSE NA 0 0.316 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN14 HGNC 23303 ENST00000469149 2/4 1 NA TCC C,T 8.236e-06 10:80504688 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 intron_variant 0.65587 0.55442 0.19123 0.156188 0.6696162 0.168091 0.8630695 FALSE 8.12684e-06 ENSE00001702657_004 ENSE00001702657 004 10 82264419 82264588 + 65 51 54 A G 82264447 1802 29 TGAAGCATGTTCACAGTGCTGGTTTCCAGCCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504690 80504691 80504691 upstr_intron -37 -0.5538462 TGAAGCATGTTCACAGTGCTGGTTTCCAGCCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 89 28 1 1 1 1 0.9864181 0.9262211 0.907151 NA NA 0.07377889 0.09284899 0.9932091 0.9166861 NA 0.08331394 NA FALSE NA 0 0.373 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN14 HGNC 23303 ENST00000469149 2/4 rs368194183 1 NA G:0 G:0.0001 AAC A,G 3.295e-05 10:80504691 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 intron_variant 0.333249 0.36043 0.15226 0.156188 0.4372685 0.168091 0.8630695 FALSE 3.25045e-05 ENSE00001702657_005 ENSE00001702657 005 10 82264419 82264588 + 65 51 54 T G 82264455 1803 37 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTGCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504698 80504699 80504699 upstr_intron -29 -0.4307692 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTGCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 346 253 0.9923843 0.9984814 0.9954329 1 0.9864181 0.9262211 0.907151 NA NA 0.06616315 0.09133044 0.9932091 0.9166861 NA 0.07874679 NA FALSE NA 0 -0.336 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN14 HGNC 23303 ENST00000469149 2/4 1 NA TTC T,G 8.236e-06 10:80504699 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 intron_variant 0.263098 0.3987 0.13736 0.295142 0.6241963 0.194233 0.8630695 FALSE 4.0621e-06 ENSE00001702657_006 ENSE00001702657 006 10 82264419 82264588 + 65 51 54 G A 82264478 1804 60 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCACTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504721 80504722 80504722 upstr_intron -6 -0.07692308 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCACTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 389 19 1 1 1 1 0.9864181 0.9262211 0.907151 NA NA 0.07377889 0.09284899 0.9932091 0.9166861 NA 0.08331394 NA FALSE NA 0 0.075 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TSPAN14 HGNC 23303 ENST00000469149 2/4 1 NA CGC G,A 1.647e-05 10:80504722 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 splice_region_variant 0.736865 0.36069 0.12353 0.295142 0.8345692 0.288602 0.8630695 FALSE 3.24902e-05 ENSE00001702657_009 ENSE00001702657 009 10 82264419 82264588 + 65 51 54 A C 82264522 1807 104 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCCTGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504765 80504766 80504766 exon -13 0.7647059 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCCTGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 50 140 1 1 1 1 0.9864181 0.9262211 0.907151 NA NA 0.07377889 0.09284899 0.9932091 0.9166861 NA 0.08331394 NA FALSE NA 1 1.763 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN14 HGNC 23303 ENST00000469149 3/5 1 NA CAT A,C 8.236e-06 10:80504766 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 start_lost 0.884717 0.92592 0.83293 0.730579 0.8535746 0 0.8630695 FALSE 4.06154e-06 ENSE00001702657_010 ENSE00001702657 010 10 82264419 82264588 + 65 51 54 C G 82264528 1808 110 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGGGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504771 80504772 80504772 exon -7 0.8823529 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGGGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 253 142 0.9981969 0.9872652 0.992731 1 0.9864181 0.9262211 0.907151 NA NA 0.07197574 0.08011422 0.9932091 0.9166861 NA 0.07604498 NA FALSE NA 0.997 0.447 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN14 HGNC 23303 ENST00000469149 3/5 1 NA GCG C,G 8.236e-06 10:80504772 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 missense_variant 4.724355 0.91976 0.7836 0.730579 0.9972884 0 0.8630695 FALSE 4.06174e-06 ENSE00001702657_011 ENSE00001702657 011 10 82264419 82264588 + 65 51 54 C T 82264549 1809 131 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTTGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504792 80504793 80504793 downstr_intron 15 1.283019 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTTGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 55 107 1 0.9985191 0.9992595 1 0.9864181 0.9262211 0.907151 NA NA 0.07377889 0.09136804 0.9932091 0.9166861 NA 0.08257346 NA FALSE NA 0 -1.369 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN14 HGNC 23303 ENST00000469149 3/4 rs199718290 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCG C,T 0.0002636 10:80504793 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 intron_variant 0.094056 0.23052 0.03498 0.120541 0.5702993 0.199754 0.8630695 FALSE 0.000329137 ENSE00001702657_013 ENSE00001702657 013 10 82264419 82264588 + 65 51 54 T A 82264565 1811 147 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTACAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504808 80504809 80504809 downstr_intron 31 1.584906 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTACAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 267 107 0.8319925 0.9974708 0.9147316 1 0.9864181 0.9262211 0.907151 NA NA -0.09422861 0.09031978 0.9932091 0.9166861 NA -0.001954417 NA FALSE NA 0 -2.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:80504809 TSPAN14 HGNC Symbol protein_coding 78957 ENSG00000108219 ENSE00003484216 intron_variant 0.62001 0.16402 0.09016 0.120541 0.8058429 0.170687 0.8630695 FALSE 4.06514e-06 ENSE00001702657_014 ENSE00001702657 014 10 82264419 82264588 + 65 51 54 T C 82264565 1812 147 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTCCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 80504808 80504809 80504809 downstr_intron 31 1.584906 TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTCCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT mutant NA NA NA NA NA 121 255 1 1 1 1 0.9864181 0.9262211 0.907151 NA NA 0.07377889 0.09284899 0.9932091 0.9166861 NA 0.08331394 NA FALSE NA 0 -2.443 NA NA NA TSPAN14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN14 NA NA NA ENSG00000108219 ENSE00003484216 intron_variant 0.345727 0.14856 0.04992 0.120541 0.6447501 0.170687 0.8630695 FALSE 4.06514e-06 ENSE00001702657_BRK ENSE00001702657 BRK 10 82264419 82264588 + 65 51 54 A,G; T,T NA NA NA TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTTTTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGCCAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT 80504662 80504832 NA NA NA NA NA NA TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTTTTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGCCAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT TGAAGCATGTTCACAGTGCTGGTTTCCAACCTAACTTCCTTCTCTCTTTCCTCTGCCCCGCTTAGTTGGCTGGAGTTGTCTTCCTTGGAGTCGGGCTGTGGGCATGGAGCGAAAAGGTAGGTGTAACTGTCGCAGGACACTGAGCTTCAGGCAGCCAAAACCAGATTCGT control NA NA NA NA NA 737 206 0.008411543 0 0.004205772 1 0.9864181 0.9262211 0.907151 NA NA -0.9178096 -0.907151 0.9932091 0.9166861 NA -0.9124803 NA TRUE NA NA NA NA NA NA TSPAN14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN14 NA NA NA ENSG00000108219 ENSE00003484216 NA NA NA NA NA NA NA 0.8630695 FALSE NA ENSE00001702822_000 ENSE00001702822 000 9 116982008 116982177 + 63 54 53 NA NA NA NA NA CTGTGTGTTCACTCAGAATCTCGCTCCTGTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAACAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 NA NA NA NA NA NA AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG natural 69 43 0.9883692 0.9961017 0.9922355 1870 3248 0.991558 0.9539143 0.9727361 0.9883692 0.9961017 0.991558 0.9539143 0 0 0 0 0.9922355 0.9727361 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00001702822 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001702822_001 ENSE00001702822 001 9 116982008 116982177 + 63 54 53 A G 116982027 1699 20 AAAGCCCACCCTGAAGGTGGCAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 114219746 114219747 114219747 upstr_intron -44 -0.6825397 AAAGCCCACCCTGAAGGTGGCAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 417 28 0.9986101 0.95 0.974305 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.007052134 -0.003914275 0.9922355 0.9727361 NA 0.00156893 NA FALSE NA 0 -2.699 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 9/57 rs201967917 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 G:0 G:0.0001 GAC A,G 4.942e-05 9:114219747 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant -0.032614 0.14067 0.01982 0.084569 0.4947981 0.0462455 0.9999994 TRUE 6.13768e-05 ENSE00001702822_002 ENSE00001702822 002 9 116982008 116982177 + 63 54 53 A C 116982030 1700 23 AAAGCCCACCCTGAAGGTGACACCACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 114219749 114219750 114219750 upstr_intron -41 -0.6349206 AAAGCCCACCCTGAAGGTGACACCACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 13 299 1 1 1 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04608573 0.9922355 0.9727361 NA 0.02726388 NA FALSE NA 0 -0.633 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 9/57 1 NA AAC A,C 8.236e-06 9:114219750 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant -0.014265 0.19137 0.04169 0.084569 0.7559246 0.0462455 0.9999994 TRUE 2.4489e-05 ENSE00001702822_003 ENSE00001702822 003 9 116982008 116982177 + 63 54 53 T A 116982045 1701 38 CTGTGTGTTCACTCAGAATCTCGCTCCTGTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAACAAACTTCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219764 114219765 114219765 upstr_intron -26 -0.3968254 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGAAGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 40 63 0.9132383 0.8534412 0.8833398 0.9883692 0.9961017 0.991558 0.9539143 NA NA -0.07831971 -0.100473 0.9922355 0.9727361 NA -0.08939637 NA FALSE NA 0 -0.5 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 9/57 1 NA ATG T,A 8.236e-06 9:114219765 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant 2.336613 0.2292 0.08027 0.084569 0.8424113 0.187418 0.9999994 TRUE 4.06659e-06 ENSE00001702822_004 ENSE00001702822 004 9 116982008 116982177 + 63 54 53 G A 116982050 1702 43 CTGTGTGTTCACTCAGAATCTCGCTCCTGTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAATAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219769 114219770 114219770 upstr_intron -21 -0.3174603 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTATTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 438 521 1 1 1 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04608573 0.9922355 0.9727361 NA 0.02726388 NA FALSE NA 0.01 -0.917 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114219770 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant 2.09915 0.3222 0.039 0.084569 0.7165187 0.187418 0.9999994 TRUE 4.06623e-06 ENSE00001702822_006 ENSE00001702822 006 9 116982008 116982177 + 63 54 53 C T 116982053 1704 46 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTTTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 114219772 114219773 114219773 upstr_intron -18 -0.2698413 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTTTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 293 16 1 1 1 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04608573 0.9922355 0.9727361 NA 0.02726388 NA FALSE NA 0.985 0.401 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 9/57 1 NA TCT C,T 8.236e-06 9:114219773 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant 2.59855 0.89743 0.49637 0.084569 0.7172433 0.30591 0.9999994 TRUE 4.06643e-06 ENSE00001702822_008 ENSE00001702822 008 9 116982008 116982177 + 63 54 53 C T 116982063 1706 56 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGTCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 114219782 114219783 114219783 upstr_intron -8 -0.1111111 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGTCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 153 644 1 0.9953126 0.9976563 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04139836 0.9922355 0.9727361 NA 0.0249202 NA FALSE NA 0.003 -0.125 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 9/57 rs577592327 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCC C,T 1.647e-05 9:114219783 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 splice_region_variant 1.836243 0.29517 0.02069 0.084569 0.7597428 0.187418 0.9999994 TRUE 8.1275e-06 ENSE00001702822_009 ENSE00001702822 009 9 116982008 116982177 + 63 54 53 C T 116982064 1707 57 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCTCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 114219783 114219784 114219784 upstr_intron -7 -0.0952381 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCTCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 84 218 1 0.9992738 0.9996369 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04535956 0.9922355 0.9727361 NA 0.0269008 NA FALSE NA 0.011 1.121 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 9/57 1 NA CCC C,T 8.236e-06 9:114219784 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 splice_region_variant 2.08131 0.32215 0.03717 0.084569 0.7522439 0.295404 0.9999994 TRUE 4.06392e-06 ENSE00001702822_010 ENSE00001702822 010 9 116982008 116982177 + 63 54 53 T A 116982066 1708 59 CTGTGTGTTCACTCAGAATCTCGCTCCTGTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGTGGGCATGAGAGAGAACAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219785 114219786 114219786 upstr_intron -5 -0.06349206 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCACCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 312 34 0.9955497 1 0.9977748 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.003991706 0.04608573 0.9922355 0.9727361 NA 0.02503872 NA FALSE NA 0.011 -0.114 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 9/57 1 NA CTC T,A 8.236e-06 9:114219786 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 splice_region_variant 1.717041 0.51018 0.07469 0.084569 0.8439572 0.300426 0.9999994 TRUE 4.06223e-06 ENSE00001702822_011 ENSE00001702822 011 9 116982008 116982177 + 63 54 53 C T 116982068 1709 61 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCTAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 114219787 114219788 114219788 upstr_intron -3 -0.03174603 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCTAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 25 392 1 0.9984314 0.9992157 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.0445171 0.9922355 0.9727361 NA 0.02647957 NA FALSE NA 0.317 -0.107 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 9/57 1 NA CCA C,T 2.471e-05 9:114219788 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 splice_region_variant 1.412036 0.67166 0.06627 0.093781 0.7106306 0.310843 0.9999994 TRUE 1.62495e-05 ENSE00001702822_013 ENSE00001702822 013 9 116982008 116982177 + 63 54 53 C T 116982078 1711 71 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCTTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 114219797 114219798 114219798 exon 8 0.1481481 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCTTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 526 114 1 0.9958151 0.9979075 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.0419008 0.9922355 0.9727361 NA 0.02517142 NA FALSE NA 1 4.96 . missense_variant&NMD_transcript_variant MODERATE COL27A1 HGNC 22986 ENST00000494090 10/58 COSM3903353 1 deleterious(0) probably_damaging(0.958) NA CCT C,T 2.471e-05 9:114219798 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 missense_variant 5.472769 0.94699 0.79885 0.75658 0.9959278 0 0.9999994 TRUE 3.24971e-05 ENSE00001702822_014 ENSE00001702822 014 9 116982008 116982177 + 63 54 53 G A 116982096 1712 89 CTGTGTGTTCACTCAGAATCTCGCTCCTGTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTTTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAACAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219815 114219816 114219816 exon 26 0.4814815 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAAAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 39 177 0.9838972 1 0.9919486 0.9883692 0.9961017 0.991558 0.9539143 NA NA -0.00766079 0.04608573 0.9922355 0.9727361 NA 0.01921247 NA FALSE NA 1 4.391 . missense_variant&NMD_transcript_variant MODERATE COL27A1 HGNC 22986 ENST00000494090 10/58 1 deleterious(0.02) possibly_damaging(0.567) NA AGA G,A 8.236e-06 9:114219816 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 missense_variant 3.749516 0.94792 0.75905 0.706298 0.9922637 0 0.9999994 TRUE 4.06197e-06 ENSE00001702822_015 ENSE00001702822 015 9 116982008 116982177 + 63 54 53 A T 116982120 1713 113 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAATTCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 114219839 114219840 114219840 exon -5 0.9259259 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAATTCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 468 273 0.9979598 0.975466 0.9867129 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.006401805 0.02155172 0.9922355 0.9727361 NA 0.01397676 NA FALSE NA 1 4.299 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114219840 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 missense_variant 2.656973 0.93218 0.81066 0.706298 0.9849852 0 0.9999994 TRUE 1.21878e-05 ENSE00001702822_018 ENSE00001702822 018 9 116982008 116982177 + 63 54 53 T C 116982143 1716 136 CTGTGTGTTCACTCAGAATCTCGCTCCTGTTCCCGAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAACAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219862 114219863 114219863 downstr_intron 19 1.365385 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTCGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 11 172 1 1 1 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04608573 0.9922355 0.9727361 NA 0.02726388 NA FALSE NA 0.003 -0.04 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 10/57 1 NA TTG T,C 1.647e-05 9:114219863 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant 0.009916 0.22578 0.0495 0.071141 0.3388817 0.0690784 0.9999994 TRUE 4.06421e-05 ENSE00001702822_019 ENSE00001702822 019 9 116982008 116982177 + 63 54 53 C G 116982149 1717 142 CTGTGTGTTCACTCAGAATCTCGCTCCTCTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAACAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219868 114219869 114219869 downstr_intron 25 1.480769 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAAGAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 13 1620 1 0.9979297 0.9989648 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04401538 0.9922355 0.9727361 NA 0.02622871 NA FALSE NA 0 -1.525 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 10/57 1 NA ACA C,G 8.236e-06 9:114219869 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant -0.0677 0.20039 0.05851 0.071141 0.4234306 0.0690784 0.9999994 TRUE 4.06573e-06 ENSE00001702822_021 ENSE00001702822 021 9 116982008 116982177 + 63 54 53 C T 116982155 1719 148 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGTGAGATTCTGAGTGAACACACAG 114219727 114219897 114219874 114219875 114219875 downstr_intron 31 1.596154 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGTGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 182 699 1 0.9999455 0.9999728 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04603126 0.9922355 0.9727361 NA 0.02723665 NA FALSE NA 0 0.011 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114219875 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant -0.184885 0.21625 0.04786 0.071141 0.4639781 0.0690784 0.9999994 TRUE 2.44113e-05 ENSE00001702822_022 ENSE00001702822 022 9 116982008 116982177 + 63 54 53 C A 116982155 1720 148 CTGTGTGTTCACTCAGAATCTCTCTCCTGTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAACAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219874 114219875 114219875 downstr_intron 31 1.596154 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGAGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 50 639 1 1 1 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.04608573 0.9922355 0.9727361 NA 0.02726388 NA FALSE NA 0 0.011 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00001702822 intron_variant -0.116826 0.18442 0.00434 0.071141 0.460564 0.0690784 0.9999994 TRUE 4.06855e-06 ENSE00001702822_023 ENSE00001702822 023 9 116982008 116982177 + 63 54 53 G A 116982156 1721 149 CTGTGTGTTCACTCAGAATCTTGCTCCTGTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAACAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219875 114219876 114219876 downstr_intron 32 1.615385 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCAAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 49 408 1 0.9996122 0.9998061 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.0456979 0.9922355 0.9727361 NA 0.02706997 NA FALSE NA 0 0.051 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 10/57 1 NA CGA G,A 8.236e-06 9:114219876 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant 0.082076 0.212 0.05933 0.071141 0.4017432 0.0690784 0.9999994 TRUE 4.06818e-06 ENSE00001702822_024 ENSE00001702822 024 9 116982008 116982177 + 63 54 53 T G 116982167 1722 160 CTGTGTGTTCCCTCAGAATCTCGCTCCTGTTCCCAAAGACTTGAAATACTCACAGGATTTCCATCCAGTCCAGGAGGGCCTCTTTCCCCAAAGACTCCAGGAAACCCCTGGAGGGCATGAGAGAGAACAAACATCTGTAGGTTAGTGTTGTCACCTTCAGGGTGGGCTTT 114219727 114219897 114219886 114219887 114219887 downstr_intron 43 1.826923 AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGGGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG mutant NA NA NA NA NA 51 225 1 0.9912436 0.9956218 0.9883692 0.9961017 0.991558 0.9539143 NA NA 0.008442034 0.03732933 0.9922355 0.9727361 NA 0.02288568 NA FALSE NA 0 -2.222 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 10/57 1 NA GTG T,G 8.236e-06 9:114219887 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001702822 intron_variant 0.00031 0.16452 0.02064 0.071141 0.3863347 0.0449761 0.9999994 TRUE 4.07189e-06 ENSE00001702822_BRK ENSE00001702822 BRK 9 116982008 116982177 + 63 54 53 A,G; T,T NA NA NA AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCTTGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTCCGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG 114219727 114219897 NA NA NA NA NA NA AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCTTGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTCCGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG AAAGCCCACCCTGAAGGTGACAACACTAACCTACAGATGTTTGTTCTCTCTCATGCCCTCCAGGGGTTTCCTGGAGTCTTTGGGGAAAGAGGCCCTCCTGGACTGGATGGAAATCCTGTGAGTATTTCAAGTCTTTGGGAACAGGAGCGAGATTCTGAGTGAACACACAG control NA NA NA NA NA 643 113 0 0.02056934 0.01028467 0.9883692 0.9961017 0.991558 0.9539143 NA NA -0.991558 -0.9333449 0.9922355 0.9727361 NA -0.9624514 NA TRUE NA NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00001702822 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001702990_000 ENSE00001702990 000 9 117136331 117136500 - 42 75 53 NA NA NA NA NA GGGGACTTGGGCCCATGCCTCCACCCCATCCCGGCCTGGTACCTTGGCCCCGAGGCGTAGCTGGTCAATGGTGTTCTCGGCCTCAGCGTACTTGGTGAGGAGCCTGTGGTAGTCTTCCTGCAGAAAGCGGGAGCAACACGGTCACATGCGCAGGCACACAATGAACCCCT 114374050 114374220 NA NA NA NA NA NA AGGGGTTCATTGTGTGCCTGCGCATGTGACCGTGTTGCTCCCGCTTTCTGCAGGAAGACTACCACAGGCTCCTCACCAAGTACGCTGAGGCCGAGAACACCATTGACCAGCTACGCCTCGGGGCCAAGGTACCAGGCCGGGATGGGGTGGAGGCATGGGCCCAAGTCCCC AGGGGTTCATTGTGTGCCTGCGCATGTGACCGTGTTGCTCCCGCTTTCTGCAGGAAGACTACCACAGGCTCCTCACCAAGTACGCTGAGGCCGAGAACACCATTGACCAGCTACGCCTCGGGGCCAAGGTACCAGGCCGGGATGGGGTGGAGGCATGGGCCCAAGTCCCC natural NA NA NA NA NA 1114 1322 0.7829151 0.9175361 0.8502256 NA NA 0.7829151 0.9175361 NA NA 0 0 NA 0.8502256 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003467974 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001703241_000 ENSE00001703241 000 16 270618 270787 - 30 99 41 NA NA NA NA NA GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 NA NA NA NA NA NA GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT natural 47 58 0.9919147 0.9837952 0.987855 14707 11426 0.9224108 0.8925288 0.9074698 0.9919147 0.9837952 0.9224108 0.8925288 0 0 0 0 0.987855 0.9074698 0 0 0 FALSE FALSE NA NA NA NA NA LUC7L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LUC7L NA NA NA ENSG00000007392 ENSE00003643311 NA NA NA NA NA NA NA 0.1642128 FALSE NA ENSE00001703241_001 ENSE00001703241 001 16 270618 270787 - 30 99 41 T C 270634 1 154 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTGATGTTGATTTATTCCT 220618 220788 220634 220635 220635 downstr_intron 14 1.482759 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTGATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 891 1780 0.999026 0.9992913 0.9991587 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.07661515 0.1067626 0.987855 0.9074698 NA 0.09168885 NA FALSE NA 0 -0.993 . intron_variant MODIFIER LUC7L HGNC 6723 ENST00000397783 3/9 1 NA TTA T,C 8.236e-06 16:220635 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 non_coding_transcript_exon_variant -0.256691 0.1691 0.01294 0.156188 0.2372283 0.0490728 0.1642128 FALSE 4.10277e-06 ENSE00001703241_002 ENSE00001703241 002 16 270618 270787 - 30 99 41 A G 270639 2 149 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTCATTTAATGTTGATTTATTCCT 220618 220788 220639 220640 220640 downstr_intron 9 1.310345 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTCATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant 29 52 0.9813664 0.9639114 0.9726389 2144 1247 0.9834018 0.9995671 0.9914845 0.9919147 0.9837952 0.9224108 0.8925288 -0.01054837 -0.01988382 0.06099098 0.1070383 0.987855 0.9074698 -0.01521609 0.08401466 0.09923075 FALSE FALSE 0.352 -0.329 . intron_variant MODIFIER LUC7L HGNC 6723 ENST00000397783 3/9 1 NA TAA A,G 8.236e-06 16:220640 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 non_coding_transcript_exon_variant -0.234023 0.39639 0.14334 0.156188 0.3101635 0.0567088 0.1642128 FALSE NA ENSE00001703241_003 ENSE00001703241 003 16 270618 270787 - 30 99 41 C A 270650 3 138 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTATATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220650 220651 220651 exon -3 0.979798 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTATATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 115 1248 1 0.9593602 0.9796801 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.07758915 0.06683148 0.987855 0.9074698 NA 0.07221032 NA FALSE NA 1 7.584 . missense_variant&splice_region_variant MODERATE LUC7L HGNC 6723 ENST00000397783 3/10 rs534626801 1 deleterious(0) probably_damaging(0.997) A:0.0000 A:0 A:0 NA A:0 A:0 A:0 TCT C,A 2.471e-05 16:220651 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 missense_variant 6.885732 0.99501 0.99006 0.706548 0.9950118 0 0.1642128 FALSE 8.1672e-06 ENSE00001703241_004 ENSE00001703241 004 16 270618 270787 - 30 99 41 C T 270674 4 114 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAAAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220674 220675 220675 exon -27 0.7373737 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAAAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 649 953 0.9931645 0.9966663 0.9949154 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.07075368 0.1041376 0.987855 0.9074698 NA 0.08744563 NA FALSE NA 1 4.763 . missense_variant MODERATE LUC7L HGNC 6723 ENST00000397783 3/10 rs372591235 1 tolerated(0.84) benign(0.065) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 TCT C,T 9.06e-05 16:220675 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 missense_variant 2.059144 0.98785 0.95047 0.719381 0.9952813 0 0.1642128 FALSE 8.53395e-05 ENSE00001703241_006 ENSE00001703241 006 16 270618 270787 - 30 99 41 T C 270691 6 97 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTGTGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220691 220692 220692 exon -44 0.5656566 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTGTGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 2963 4135 0.9975318 0.9980272 0.9977795 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.075121 0.1054984 0.987855 0.9074698 NA 0.0903097 NA FALSE NA 1 7.799 . missense_variant MODERATE LUC7L HGNC 6723 ENST00000397783 3/10 1 deleterious(0) probably_damaging(1) NA ATA T,C 8.236e-06 16:220692 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 missense_variant 5.937425 0.99312 0.98646 0.719381 0.9983943 0 0.1642128 FALSE 4.06243e-06 ENSE00001703241_007 ENSE00001703241 007 16 270618 270787 - 30 99 41 G A 270697 7 91 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGTAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220697 220698 220698 exon -50 0.5050505 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGTAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 1204 748 0.9213649 0.9550693 0.9382171 0.9919147 0.9837952 0.9224108 0.8925288 NA NA -0.00104593 0.06254053 0.987855 0.9074698 NA 0.0307473 NA FALSE NA 1 9.57 . missense_variant MODERATE LUC7L HGNC 6723 ENST00000397783 3/10 1 deleterious(0.04) probably_damaging(0.985) NA TGC G,A 8.236e-06 16:220698 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 missense_variant 6.836115 0.99503 0.9931 0.719381 0.9991728 0 0.1642128 FALSE 4.06266e-06 ENSE00001703241_009 ENSE00001703241 009 16 270618 270787 - 30 99 41 G T 270701 9 87 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCAGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220701 220702 220702 exon 46 0.4646465 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCAGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant 16 13 1 0.9995799 0.9997899 NA NA NA NA NA 0.9919147 0.9837952 0.9224108 0.8925288 0.008085251 0.01578471 NA NA 0.987855 0.9074698 0.01193498 NA NA NA FALSE 1 2.581 . synonymous_variant LOW LUC7L HGNC 6723 ENST00000397783 3/10 rs373487167 1 NA T:0 T:0.0001 CGG G,T 4.942e-05 16:220702 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 synonymous_variant 1.458958 0.98376 0.92902 0.719381 0.7715511 0 0.1642128 FALSE 2.84403e-05 ENSE00001703241_010 ENSE00001703241 010 16 270618 270787 - 30 99 41 C T 270713 10 75 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACAACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220713 220714 220714 exon 34 0.3434343 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACAACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant 14 52 0.9993791 0.9732878 0.9863334 1367 150 0.9997757 1 0.9998879 0.9919147 0.9837952 0.9224108 0.8925288 0.007464339 -0.0105074 0.07736488 0.1074712 0.987855 0.9074698 -0.001521532 0.09241806 0.09393959 FALSE FALSE 1 7.584 . missense_variant MODERATE LUC7L HGNC 6723 ENST00000397783 3/10 1 deleterious(0) probably_damaging(0.997) NA TCG C,T 1.647e-05 16:220714 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 missense_variant 7.532382 0.9949 0.98751 0.719381 0.9993123 0 0.1642128 FALSE 8.1244e-06 ENSE00001703241_011 ENSE00001703241 011 16 270618 270787 - 30 99 41 G A 270714 11 74 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCATGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220714 220715 220715 exon 33 0.3333333 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCATGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant 44 80 0.85 0.85 0.85 1526 4733 0.8305239 0.8894933 0.8600086 0.9919147 0.9837952 0.9224108 0.8925288 -0.1419147 -0.1337952 -0.09188698 -0.00303547 0.987855 0.9074698 -0.137855 -0.04746122 0.09039374 FALSE FALSE 1 1.64 . synonymous_variant LOW LUC7L HGNC 6723 ENST00000397783 3/10 1 NA CGT G,A 8.236e-06 16:220715 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 synonymous_variant 1.085275 0.97922 0.84021 0.719381 0.6576506 0 0.1642128 FALSE 1.21877e-05 ENSE00001703241_012 ENSE00001703241 012 16 270618 270787 - 30 99 41 G A 270723 12 65 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACTAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220723 220724 220724 exon 24 0.2424242 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACTAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 2090 224 0.9984739 0.9894006 0.9939372 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.07606303 0.09687183 0.987855 0.9074698 NA 0.08646743 NA FALSE NA 1 1.163 rs149742297 synonymous_variant LOW LUC7L HGNC 6723 ENST00000397783 3/10 rs149742297 1 NA A:0.0007 A:0 TGG G,A 7.413e-05 16:220724 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 synonymous_variant 1.084145 0.97429 0.84903 0.719381 0.642348 0 0.1642128 FALSE 4.8746e-05 ENSE00001703241_013 ENSE00001703241 013 16 270618 270787 - 30 99 41 G A 270724 13 64 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTATCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220724 220725 220725 exon 23 0.2323232 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTATCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 779 707 0.9999472 0.9978174 0.9988823 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.07753631 0.1052886 0.987855 0.9074698 NA 0.09141246 NA FALSE NA 1 9.57 . missense_variant MODERATE LUC7L HGNC 6723 ENST00000397783 3/10 rs201028787 1 tolerated(0.08) benign(0.326) NA A:0 A:0.0001 GGT G,A 0.0001318 16:220725 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 missense_variant 3.426433 0.99503 0.9931 0.719381 0.9976746 0 0.1642128 FALSE 0.00011781 ENSE00001703241_014 ENSE00001703241 014 16 270618 270787 - 30 99 41 A C 270728 14 60 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAAGGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220728 220729 220729 exon 19 0.1919192 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAAGGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 1016 708 0.9834332 0.9742671 0.9788501 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.06102232 0.08173836 0.987855 0.9074698 NA 0.07138034 NA FALSE NA 1 9.057 . missense_variant MODERATE LUC7L HGNC 6723 ENST00000397783 3/10 1 deleterious(0) probably_damaging(1) NA CAT A,C 8.236e-06 16:220729 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 missense_variant 5.565848 0.9934 0.99248 0.719381 0.975611 0 0.1642128 FALSE 4.06246e-06 ENSE00001703241_015 ENSE00001703241 015 16 270618 270787 - 30 99 41 C A 270745 15 43 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCTCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220745 220746 220746 exon 2 0.02020202 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCTCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 1426 2102 0.9697138 0.9972094 0.9834616 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.047303 0.1046806 0.987855 0.9074698 NA 0.07599182 NA FALSE NA 1 7.584 . missense_variant&splice_region_variant MODERATE LUC7L HGNC 6723 ENST00000397783 3/10 1 deleterious(0) probably_damaging(0.968) NA GCG C,A 2.471e-05 16:220746 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 missense_variant 6.464756 0.99512 0.99021 0.719381 0.9984003 0 0.1642128 FALSE 4.07349e-05 ENSE00001703241_016 ENSE00001703241 016 16 270618 270787 - 30 99 41 C T 270747 16 41 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAACGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220747 220748 220748 upstr_intron -1 0 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAACGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 1447 2154 0.01841361 0.004621706 0.01151766 0.9919147 0.9837952 0.9224108 0.8925288 NA NA -0.9039972 -0.8879071 0.987855 0.9074698 NA -0.8959521 NA TRUE NA 1 7.584 . splice_acceptor_variant HIGH LUC7L HGNC 6723 ENST00000397783 2/9 1 NA HC GCT C,T 8.236e-06 16:220748 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 splice_acceptor_variant 3.929568 0.99125 0.9824 0.359288 0.9902931 0.977444 0.1642128 FALSE 4.07432e-06 ENSE00001703241_017 ENSE00001703241 017 16 270618 270787 - 30 99 41 G A 270749 17 39 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCATAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220749 220750 220750 upstr_intron -3 -0.04878049 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCATAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 1276 944 0.9894268 0.9933736 0.9914002 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.06701598 0.1008449 0.987855 0.9074698 NA 0.08393043 NA FALSE NA 1 2.51 rs182650712 splice_region_variant&intron_variant LOW LUC7L HGNC 6723 ENST00000397783 2/9 rs182650712 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGT G,A 8.236e-06 16:220750 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 splice_region_variant 0.547327 0.98475 0.87362 0.115753 0.5766596 0.796491 0.1642128 FALSE 4.07847e-06 ENSE00001703241_018 ENSE00001703241 018 16 270618 270787 - 30 99 41 T C 270750 18 38 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCGCAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220750 220751 220751 upstr_intron -4 -0.07317073 GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCGCAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 323 642 0.9884126 0.9980732 0.9932429 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.06600178 0.1055444 0.987855 0.9074698 NA 0.08577309 NA FALSE NA 0.997 2.109 rs112337163 splice_region_variant&intron_variant LOW LUC7L HGNC 6723 ENST00000397783 2/9 rs112337163 1 NA GTG T,C 8.236e-06 16:220751 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 splice_region_variant -0.145273 0.86052 0.83422 0.099367 0.4622638 0.0766836 0.1642128 FALSE 4.07884e-06 ENSE00001703241_019 ENSE00001703241 019 16 270618 270787 - 30 99 41 C G 270761 19 27 GGTAGGCACTGAGGTCTGCATTTTCTCTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220761 220762 220762 upstr_intron -15 -0.3414634 GGTAGGCACTGAGGTCTGCATTTTCTCTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 1425 484 0.997401 0.9793433 0.9883722 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.07499016 0.08681457 0.987855 0.9074698 NA 0.08090237 NA FALSE NA 0.001 -1.68 . intron_variant MODIFIER LUC7L HGNC 6723 ENST00000397783 2/9 1 NA ACA C,G 8.236e-06 16:220762 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 intron_variant 0.035943 0.24369 0.0314 0.099367 0.2390941 0.0478249 0.1642128 FALSE 8.19101e-06 ENSE00001703241_020 ENSE00001703241 020 16 270618 270787 - 30 99 41 G A 270769 20 19 GGTAGGCACTGAGGTCTGTATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 220769 220770 220770 upstr_intron -23 -0.5365854 GGTAGGCACTGAGGTCTGTATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT mutant NA NA NA NA NA 1129 624 0.9948277 0.9302064 0.9625171 0.9919147 0.9837952 0.9224108 0.8925288 NA NA 0.07241682 0.03767768 0.987855 0.9074698 NA 0.05504725 NA FALSE NA 0 0.573 . intron_variant MODIFIER LUC7L HGNC 6723 ENST00000397783 2/9 1 NA TGC G,A 8.236e-06 16:220770 LUC7L HGNC Symbol protein_coding 40494 ENSG00000007392 ENSE00003643311 intron_variant -0.010085 0.2232 0.11076 0.099367 0.7159897 0.0478249 0.1642128 FALSE 4.10243e-06 ENSE00001703241_BRK ENSE00001703241 BRK 16 270618 270787 - 30 99 41 A,G; T,T NA NA NA GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACTTCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATCCAAGTTTTATTTAATGTTGATTTATTCCT 220618 220788 NA NA NA NA NA NA GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACTTCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATCCAAGTTTTATTTAATGTTGATTTATTCCT GGTAGGCACTGAGGTCTGCATTTTCTGTTTCTTTCCCACAGCGCATGGATTTAGGAGAATGTACCAAAATCCACGACTTGGCCCTCCGAGCAGATTATGAGATTGCAAGTAAAGAAAGAGACCTGTTTTTTGAATTAGATGTAAGTTTTATTTAATGTTGATTTATTCCT control NA NA NA NA NA 477 939 0.01027135 0.09117118 0.05072127 0.9919147 0.9837952 0.9224108 0.8925288 NA NA -0.9121395 -0.8013576 0.987855 0.9074698 NA -0.8567485 NA TRUE NA NA NA NA NA NA LUC7L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LUC7L NA NA NA ENSG00000007392 ENSE00003643311 NA NA NA NA NA NA NA 0.1642128 FALSE NA ENSE00001703347_000 ENSE00001703347 000 9 97177398 97177567 + 42 96 32 NA NA NA NA NA TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 NA NA NA NA NA NA TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT natural 23 27 0.999232 1 0.999616 4412 3447 0.9149639 0.9831552 0.9490596 0.999232 1 0.9149639 0.9831552 0 0 0 0 0.999616 0.9490596 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MFSD14B NA NA NA ENSG00000148110 ENSE00001703347 NA NA NA NA NA NA NA NA NA NA ENSE00001703347_003 ENSE00001703347 003 9 97177398 97177567 + 42 96 32 T G 97177433 926 36 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTGTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415150 94415151 94415151 upstr_intron -7 -0.1428571 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTGTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 251 674 1 0.9999435 0.9999718 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 0.01678829 0.999616 0.9490596 NA 0.0509122 NA FALSE NA 0.98 2.324 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:94415151 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 splice_region_variant 1.318618 0.95793 0.69031 0.262962 0.8602299 0.252671 NA NA 6.2204e-05 ENSE00001703347_004 ENSE00001703347 004 9 97177398 97177567 + 42 96 32 T C 97177433 927 36 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTCTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415150 94415151 94415151 upstr_intron -7 -0.1428571 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTCTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 196 126 1 1 1 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 0.01684477 0.999616 0.9490596 NA 0.05094044 NA FALSE NA 0.98 2.324 NA NA NA HIATL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MFSD14B NA NA NA ENSG00000148110 ENSE00001703347 splice_region_variant 1.055243 0.95813 0.64954 0.262962 0.8481122 0.252671 NA NA 1.65877e-05 ENSE00001703347_006 ENSE00001703347 006 9 97177398 97177567 + 42 96 32 A C 97177445 929 48 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACACGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415162 94415163 94415163 exon 6 0.0625 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACACGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 21 124 1 0.9423465 0.9711732 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 -0.04080873 0.999616 0.9490596 NA 0.02211368 NA FALSE NA 1 2.488 . missense_variant MODERATE HIATL1 HGNC 23376 ENST00000375344 2/12 1 tolerated(0.11) benign(0.033) NA AAG .,C 1.647e-05 9:94415163 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 missense_variant 1.698894 0.95084 0.6094 0.706298 0.9852691 0 NA NA 4.08053e-06 ENSE00001703347_008 ENSE00001703347 008 9 97177398 97177567 + 42 96 32 C T 97177455 931 58 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCTGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415172 94415173 94415173 exon 16 0.1666667 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCTGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 12 212 1 0.9992533 0.9996266 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 0.01609804 0.999616 0.9490596 NA 0.05056707 NA FALSE NA 0.241 0.021 . stop_gained HIGH HIATL1 HGNC 23376 ENST00000375344 2/12 COSM1463764 1 NA HC CCG .,T 8.236e-06 9:94415173 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 stop_gained 11.04904 0.94389 0.06424 0.706298 0.9957347 0 NA NA 8.13564e-06 ENSE00001703347_009 ENSE00001703347 009 9 97177398 97177567 + 42 96 32 C A 97177458 932 61 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGAACAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415175 94415176 94415176 exon 19 0.1979167 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGAACAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 39 17 1 1 1 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 0.01684477 0.999616 0.9490596 NA 0.05094044 NA FALSE NA 1 3.16 . missense_variant MODERATE HIATL1 HGNC 23376 ENST00000375344 2/12 1 deleterious(0) probably_damaging(0.978) NA ACC .,A 8.236e-06 9:94415176 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 missense_variant 6.239833 0.97758 0.80623 0.706298 0.9960394 0 NA NA 4.06646e-06 ENSE00001703347_010 ENSE00001703347 010 9 97177398 97177567 + 42 96 32 A G 97177468 933 71 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTGCCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415185 94415186 94415186 exon 29 0.3020833 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTGCCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 43 460 0.9524539 0.999656 0.976055 0.999232 1 0.9149639 0.9831552 NA NA 0.03749003 0.01650081 0.999616 0.9490596 NA 0.02699542 NA FALSE NA 1 3.888 . missense_variant MODERATE HIATL1 HGNC 23376 ENST00000375344 2/12 1 deleterious(0.01) possibly_damaging(0.823) NA TAC .,G 8.236e-06 9:94415186 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 missense_variant 5.154243 0.95787 0.74883 0.706298 0.9976075 0 NA NA 4.06587e-06 ENSE00001703347_011 ENSE00001703347 011 9 97177398 97177567 + 42 96 32 A G 97177479 934 82 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTGTTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415196 94415197 94415197 exon 40 0.4166667 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTGTTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 181 1887 1 0.9988011 0.9994006 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 0.01564592 0.999616 0.9490596 NA 0.05034101 NA FALSE NA 0.883 0.186 . missense_variant MODERATE HIATL1 HGNC 23376 ENST00000375344 2/12 1 tolerated(1) benign(0.005) NA TAT .,G 4.118e-05 9:94415197 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 missense_variant -0.351114 0.90114 0.17695 0.706298 0.4937572 0 NA NA 2.03295e-05 ENSE00001703347_013 ENSE00001703347 013 9 97177398 97177567 + 42 96 32 T C 97177486 936 89 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCACCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415203 94415204 94415204 exon 47 0.4895833 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCACCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 268 21 1 0.9069614 0.9534807 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 -0.07619384 0.999616 0.9490596 NA 0.004421131 NA FALSE NA 1 6.068 . missense_variant MODERATE HIATL1 HGNC 23376 ENST00000375344 2/12 rs556386529 1 tolerated(0.12) benign(0.173) C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATC .,C 8.236e-06 9:94415204 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 missense_variant 2.297167 0.97197 0.86238 0.706298 0.9960354 0 NA NA 4.06587e-06 ENSE00001703347_017 ENSE00001703347 017 9 97177398 97177567 + 42 96 32 A G 97177527 940 130 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAGTGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415244 94415245 94415245 exon -9 0.9166667 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAGTGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 595 112 0.9953312 0.9985853 0.9969583 0.999232 1 0.9149639 0.9831552 NA NA 0.08036732 0.01543006 0.999616 0.9490596 NA 0.04789869 NA FALSE NA 1 7.021 . missense_variant MODERATE HIATL1 HGNC 23376 ENST00000375344 2/12 1 tolerated(0.41) benign(0.013) NA AAT .,G 8.236e-05 9:94415245 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 missense_variant 1.212427 0.97167 0.90747 0.706298 0.9338025 0 NA NA 6.9122e-05 ENSE00001703347_018 ENSE00001703347 018 9 97177398 97177567 + 42 96 32 G A 97177529 941 132 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATATTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415246 94415247 94415247 exon -7 0.9375 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATATTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 14 802 1 1 1 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 0.01684477 0.999616 0.9490596 NA 0.05094044 NA FALSE NA 1 5.693 . missense_variant MODERATE HIATL1 HGNC 23376 ENST00000375344 2/12 1 tolerated(0.39) benign(0.056) NA TGT .,A 2.471e-05 9:94415247 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 missense_variant 2.112032 0.95961 0.84155 0.706298 0.966139 0 NA NA 8.1318e-06 ENSE00001703347_019 ENSE00001703347 019 9 97177398 97177567 + 42 96 32 A G 97177538 942 141 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTGAGTATTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415255 94415256 94415256 downstr_intron 3 1.096774 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTGAGTATTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 371 122 1 1 1 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 0.01684477 0.999616 0.9490596 NA 0.05094044 NA FALSE NA 1 2.049 . splice_region_variant&intron_variant LOW HIATL1 HGNC 23376 ENST00000375344 2/11 rs200761194 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TAA .,G 3.295e-05 9:94415256 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 splice_region_variant 1.78728 0.95694 0.59203 0.078448 0.9438362 0.374348 NA NA 2.43978e-05 ENSE00001703347_020 ENSE00001703347 020 9 97177398 97177567 + 42 96 32 A G 97177542 943 145 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTGTTGCTGAACTGGGTTTGTGTTTTGT 94415115 94415285 94415259 94415260 94415260 downstr_intron 7 1.225806 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTGTTGCTGAACTGGGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 109 20 0.9814204 1 0.9907102 0.999232 1 0.9149639 0.9831552 NA NA 0.06645653 0.01684477 0.999616 0.9490596 NA 0.04165065 NA FALSE NA 0.962 2.199 . splice_region_variant&intron_variant LOW HIATL1 HGNC 23376 ENST00000375344 2/11 1 NA TAT .,G 7.413e-05 9:94415260 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 splice_region_variant 1.438739 0.76719 0.13352 0.078448 0.8685223 0.287525 NA NA 0.000117925 ENSE00001703347_022 ENSE00001703347 022 9 97177398 97177567 + 42 96 32 G A 97177554 945 157 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGAGTTTGTGTTTTGT 94415115 94415285 94415271 94415272 94415272 downstr_intron 19 1.612903 TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGAGTTTGTGTTTTGT TTATATTTCTTTGCTAATTTTCATAATAACTTTCTTTTTTAGCTACAAGGCTTTGGCCGACCAAGTGTGTACCATGCTGCTATTGTCATCTTCCTTGAATTCTTTGCGTGGGGCCTGTTGACAACTCCAATGTTGACTGTAAGTATTGCTGAACTGGGTTTGTGTTTTGT mutant NA NA NA NA NA 94 31 1 1 1 0.999232 1 0.9149639 0.9831552 NA NA 0.0850361 0.01684477 0.999616 0.9490596 NA 0.05094044 NA FALSE NA 0 -0.087 . intron_variant MODIFIER HIATL1 HGNC 23376 ENST00000375344 2/11 1 NA GGG .,A 8.236e-06 9:94415272 MFSD14B HGNC Symbol protein_coding 86491 ENSG00000148110 ENSE00001703347 intron_variant 1.095943 0.15286 0.01761 0.078448 0.7571309 0.157106 NA NA 4.06769e-06 ENSE00001703609_000 ENSE00001703609 000 7 73522154 73522323 + 47 87 36 NA NA NA NA NA TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 NA NA NA NA NA NA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA natural NA NA NA NA NA 1288 2456 0.9420053 0.9911275 0.9665664 NA NA 0.9420053 0.9911275 NA NA 0 0 NA 0.9665664 NA 0 NA FALSE NA NA NA NA NA NA LIMK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LIMK1 NA NA NA ENSG00000106683 ENSE00003698568 NA NA NA NA NA NA NA 0.9908963 TRUE NA ENSE00001703609_001 ENSE00001703609 001 7 73522154 73522323 + 47 87 36 C A 73522182 1181 29 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACAGATGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107851 74107852 74107852 upstr_intron -19 -0.3829787 GCTTACAGCAGAGCTTCTGTCTTCACACATCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 58 876 1 0.9114436 0.9557218 NA NA 0.9420053 0.9911275 NA NA 0.05799472 -0.07968392 NA 0.9665664 NA -0.0108446 NA FALSE NA 0 0.076 . intron_variant MODIFIER LIMK1 HGNC 6613 ENST00000418310 8/15 1 NA CCT C,A 8.677e-06 7:74107852 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 intron_variant 0.055253 0.26397 0.21853 0.256867 0.5506682 0.046323 0.9908963 TRUE NA ENSE00001703609_002 ENSE00001703609 002 7 73522154 73522323 + 47 87 36 T C 73522185 1182 32 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACGGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107854 74107855 74107855 upstr_intron -16 -0.3191489 GCTTACAGCAGAGCTTCTGTCTTCACACCTCCGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 183 177 1 0.9997847 0.9998924 NA NA 0.9420053 0.9911275 NA NA 0.05799472 0.008657178 NA 0.9665664 NA 0.03332595 NA FALSE NA 0 -1.225 . intron_variant MODIFIER LIMK1 HGNC 6613 ENST00000418310 8/15 1 NA CTG T,C 8.624e-06 7:74107855 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 intron_variant -0.030596 0.1686 0.01204 0.256867 0.5311436 0.0794585 0.9908963 TRUE NA ENSE00001703609_004 ENSE00001703609 004 7 73522154 73522323 + 47 87 36 C T 73522196 1184 43 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCATGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107865 74107866 74107866 upstr_intron -5 -0.08510638 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACATGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 249 420 0.998503 1 0.9992515 NA NA 0.9420053 0.9911275 NA NA 0.05649768 0.008872478 NA 0.9665664 NA 0.03268508 NA FALSE NA 0 -1.927 . splice_region_variant&intron_variant LOW LIMK1 HGNC 6613 ENST00000418310 8/15 1 NA ACG C,T 8.482e-06 7:74107866 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 splice_region_variant 0.854785 0.17792 0.02057 0.256867 0.5579679 0.240934 0.9908963 TRUE NA ENSE00001703609_005 ENSE00001703609 005 7 73522154 73522323 + 47 87 36 G A 73522197 1185 44 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGTGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107866 74107867 74107867 upstr_intron -4 -0.06382979 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACACAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 58 107 0.9903951 1 0.9951975 NA NA 0.9420053 0.9911275 NA NA 0.04838981 0.008872478 NA 0.9665664 NA 0.02863114 NA FALSE NA 0 -1.5 . splice_region_variant&intron_variant LOW LIMK1 HGNC 6613 ENST00000418310 8/15 1 NA CGC G,A 8.465e-06 7:74107867 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 splice_region_variant 0.342551 0.13498 0.01654 0.256867 0.533139 0.256366 0.9908963 TRUE NA ENSE00001703609_006 ENSE00001703609 006 7 73522154 73522323 + 47 87 36 C T 73522210 1186 57 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACAGTGTGTCACCTGCGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107879 74107880 74107880 exon 10 0.1149425 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACTGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 170 18 0.9935309 1 0.9967655 NA NA 0.9420053 0.9911275 NA NA 0.05152564 0.008872478 NA 0.9665664 NA 0.03019906 NA FALSE NA 1 1.895 . missense_variant MODERATE LIMK1 HGNC 6613 ENST00000418310 9/16 1 deleterious(0) probably_damaging(0.932) NA CCG C,T 3.353e-05 7:74107880 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 missense_variant 6.796643 0.98145 0.98007 0.706548 0.999314 0 0.9908963 TRUE 5.53036e-05 ENSE00001703609_008 ENSE00001703609 008 7 73522154 73522323 + 47 87 36 G C 73522230 1188 77 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACGATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107899 74107900 74107900 exon 30 0.3448276 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATCGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 378 190 0.9943875 1 0.9971938 NA NA 0.9420053 0.9911275 NA NA 0.05238226 0.008872478 NA 0.9665664 NA 0.03062737 NA FALSE NA 1 9.352 . missense_variant MODERATE LIMK1 HGNC 6613 ENST00000418310 9/16 1 deleterious(0) probably_damaging(0.993) NA TGG G,C 8.345e-06 7:74107900 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 missense_variant 6.248567 0.99142 0.99273 0.706548 0.9973558 0 0.9908963 TRUE NA ENSE00001703609_009 ENSE00001703609 009 7 73522154 73522323 + 47 87 36 A C 73522241 1189 88 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCGCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107910 74107911 74107911 exon 41 0.4712644 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGCGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 114 409 1 0.9965783 0.9982892 NA NA 0.9420053 0.9911275 NA NA 0.05799472 0.005450808 NA 0.9665664 NA 0.03172277 NA FALSE NA 1 8.846 . missense_variant MODERATE LIMK1 HGNC 6613 ENST00000418310 9/16 1 deleterious(0.02) probably_damaging(0.997) NA GAG A,C 1.67e-05 7:74107911 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 missense_variant 6.283397 0.98871 0.99078 0.706548 0.9968413 0 0.9908963 TRUE 1.05057e-05 ENSE00001703609_010 ENSE00001703609 010 7 73522154 73522323 + 47 87 36 T A 73522244 1190 91 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCTGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107913 74107914 74107914 exon -44 0.5057471 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCAGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 20 1847 1 0.967531 0.9837655 NA NA 0.9420053 0.9911275 NA NA 0.05799472 -0.02359651 NA 0.9665664 NA 0.01719911 NA FALSE NA 1 7.6 . missense_variant MODERATE LIMK1 HGNC 6613 ENST00000418310 9/16 1 deleterious(0) probably_damaging(1) NA CTG T,A 8.353e-06 7:74107914 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 missense_variant 6.405872 0.98842 0.98513 0.706548 0.9962593 0 0.9908963 TRUE NA ENSE00001703609_012 ENSE00001703609 012 7 73522154 73522323 + 47 87 36 G A 73522250 1192 97 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACTGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107919 74107920 74107920 exon -38 0.5747126 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCAGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 1444 1322 0.9976069 0.9958327 0.9967198 NA NA 0.9420053 0.9911275 NA NA 0.05560159 0.004705188 NA 0.9665664 NA 0.03015339 NA FALSE NA 1 9.352 . missense_variant MODERATE LIMK1 HGNC 6613 ENST00000418310 9/16 1 deleterious(0.03) possibly_damaging(0.455) NA CGG G,A 1.675e-05 7:74107920 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 missense_variant 5.915833 0.99103 0.99089 0.706548 0.9991364 0 0.9908963 TRUE NA ENSE00001703609_016 ENSE00001703609 016 7 73522154 73522323 + 47 87 36 C T 73522279 1196 126 TCCCTCTGGAGGGAAGAGGGCATTCCGCTCACTGACCTCCTTGAAGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107948 74107949 74107949 exon -9 0.908046 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCTTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 145 39 1 1 1 NA NA 0.9420053 0.9911275 NA NA 0.05799472 0.008872478 NA 0.9665664 NA 0.0334336 NA FALSE NA 1 3.036 . missense_variant MODERATE LIMK1 HGNC 6613 ENST00000418310 9/16 1 deleterious(0) probably_damaging(0.99) NA CCT C,T 8.595e-06 7:74107949 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 missense_variant 5.849247 0.97786 0.91253 0.706548 0.9986631 0 0.9908963 TRUE NA ENSE00001703609_018 ENSE00001703609 018 7 73522154 73522323 + 47 87 36 C T 73522297 1198 144 TCCCTCTGGAGGGAAGAGGGCATTCCACTCACTGACCTCCTTGAGGAACGTCCTCTGGGTCTCCTCGTCGAACCGGATCAGCTCCTTCATCACCATCACCTCACCTGTCTCACGGTGTGTCACCTGCGTGTGGGACACAGAGGTGTGAAGACAGAAGCTCTGCTGTAAGC 74107823 74107993 74107966 74107967 74107967 downstr_intron 10 1.285714 GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGTGGAATGCCCTCTTCCCTCCAGAGGGA GCTTACAGCAGAGCTTCTGTCTTCACACCTCTGTGTCCCACACGCAGGTGACACACCGTGAGACAGGTGAGGTGATGGTGATGAAGGAGCTGATCCGGTTCGACGAGGAGACCCAGAGGACGTTCCTCAAGGAGGTCAGTGAGCGGAATGCCCTCTTCCCTCCAGAGGGA mutant NA NA NA NA NA 1154 751 0.9995713 0.9997386 0.9996549 NA NA 0.9420053 0.9911275 NA NA 0.057566 0.00861106 NA 0.9665664 NA 0.03308853 NA FALSE NA 0.019 -0.114 . intron_variant MODIFIER LIMK1 HGNC 6613 ENST00000418310 9/15 1 NA GCG C,T 3.6e-05 7:74107967 LIMK1 HGNC Symbol protein_coding 39592 ENSG00000106683 ENSE00003698568 intron_variant 0.295172 0.12319 0.00564 0.069865 0.6708828 0.046875 0.9908963 TRUE NA ENSE00001703905_000 ENSE00001703905 000 6 33140031 33140200 - 35 90 45 NA NA NA NA NA ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG 33172253 33172423 NA NA NA NA NA NA ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG natural NA NA NA NA NA 1672 422 0.9718204 0.9543778 0.9630991 NA NA 0.9718204 0.9543778 NA NA 0 0 NA 0.9630991 NA 0 NA FALSE NA NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001703905 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001703905_001 ENSE00001703905 001 6 33140031 33140200 - 35 90 45 T G 33140104 840 97 ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCTGCTGGTCTGCGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG 33172253 33172423 33172326 33172327 33172327 exon -39 0.5777778 ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCTGCTGGTCTGCGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG mutant NA NA NA NA NA 603 160 0.9999317 0.9733958 0.9866638 NA NA 0.9718204 0.9543778 NA NA 0.02811131 0.01901796 NA 0.9630991 NA 0.02356463 NA FALSE NA 0.945 1.551 . synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 39/65 1 NA CTC T,G 1.712e-05 6:33172327 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001703905 synonymous_variant 0.408135 0.9814 0.86695 0.615465 0.7227852 0 0.9999993 TRUE 1.00648e-05 ENSE00001703905_003 ENSE00001703905 003 6 33140031 33140200 - 35 90 45 C T 33140126 842 75 ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGAAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG 33172253 33172423 33172348 33172349 33172349 exon 30 0.3333333 ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGAAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG mutant NA NA NA NA NA 301 24 0.9392736 0.9370555 0.9381645 NA NA 0.9718204 0.9543778 NA NA -0.0325468 -0.01732236 NA 0.9630991 NA -0.02493458 NA FALSE NA 0.036 -0.514 rs147004824 synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 39/65 rs147004824 1 T:0.0008 T:0.003 T:0 NA T:0 T:0 T:0 TCC C,T 4.292e-05 6:33172349 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001703905 synonymous_variant 1.585811 0.96437 0.13417 0.615465 0.7359058 0 0.9999993 TRUE 4.06442e-05 ENSE00001703905_004 ENSE00001703905 004 6 33140031 33140200 - 35 90 45 G A 33140133 843 68 ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGTCCCAGGGAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG 33172253 33172423 33172355 33172356 33172356 exon 23 0.2555556 ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGTCCCAGGGAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG ATTTGGGAGCATGGCTGTGGCTCATCACCTCTCCTTTCCTTTTAGGGTGACCCTGGTCCCCCTGGGGCCCCAGGGAAGGATGGTCCTGCTGGTCTGAGGGGATTCCCAGGAGAGAGAGGCCTCCCAGGCACTGCTGTGAGTGTGACTCCCAGACCCCTGCCTGTCACAAG mutant NA NA NA NA NA 556 104 0.990204 0.9402822 0.9652431 NA NA 0.9718204 0.9543778 NA NA 0.01838355 -0.01409564 NA 0.9630991 NA 0.002143959 NA FALSE NA 0.001 0.987 . missense_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 39/65 rs376797260 1 benign(0.084) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 GGC G,A 5.154e-05 6:33172356 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001703905 missense_variant 3.831519 0.97091 0.14452 0.615465 0.9792938 0 0.9999993 TRUE 0.000102299 ENSE00001704022_000 ENSE00001704022 000 12 3121277 3121446 + 59 63 48 NA NA NA NA NA TGGCCACCACTCCTGGCCACTCCAGCACCCCCACTGCAGTTTCCTTACCTTTAGCTTGGCCTGGATCTCGCGAGCTTTGCGACGAGCCAGCACCTGGATGTGGCTGGAGACCTGTGGCAGGGAGAGAGGACTCCTGTCTCTACCTCCCAACAACCTGTGTTCCCCAGCCT 3012110 3012280 NA NA NA NA NA NA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA natural 280 259 0.85 0.8414396 0.8457198 115 309 0.9407875 0.9547649 0.9477762 0.85 0.8414396 0.9407875 0.9547649 0 0 0 0 0.8457198 0.9477762 0 0 0 FALSE FALSE NA NA NA NA NA TEAD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEAD4 NA NA NA ENSG00000197905 ENSE00003653885 NA NA NA NA NA NA NA NA NA NA ENSE00001704022_002 ENSE00001704022 002 12 3121277 3121446 + 59 63 48 G A 3121367 176 91 TGGCCACCACTCCTGGCCACTCCAGCACCCCCACTGCAGTTTCCTTACCTTTAGCTTGGCCTGGATCTCGCGAGCTTTGTGACGAGCCAGCACCTGGATGTGGCTGGAGACCTGTGGCAGGGAGAGAGGACTCCTGTCTCTACCTCCCAACAACCTGTGTTCCCCAGCCT 3012110 3012280 3012200 3012201 3012201 exon -32 0.5079365 AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCACAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA mutant 113 40 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8414396 0.9407875 0.9547649 0 0.008560375 NA NA 0.8457198 0.9477762 0.004280188 NA NA NA FALSE 1 6.061 . missense_variant MODERATE TEAD4 HGNC 11717 ENST00000544666 2/8 1 deleterious(0) probably_damaging(1) NA CGC G,A 8.236e-06 12:3012201 TEAD4 HGNC Symbol protein_coding 81343 ENSG00000197905 ENSE00003653885 missense_variant 5.734499 0.97895 0.93988 0.722319 0.9985892 0 NA NA 1.62575e-05 ENSE00001704022_004 ENSE00001704022 004 12 3121277 3121446 + 59 63 48 C T 3121377 178 101 TGGCCACCACTCCTGGCCACTCCAGCACCCCCACTGCAGTTTCCTTACCTTTAGCTTGGCCTGGATCTCACGAGCTTTGCGACGAGCCAGCACCTGGATGTGGCTGGAGACCTGTGGCAGGGAGAGAGGACTCCTGTCTCTACCTCCCAACAACCTGTGTTCCCCAGCCT 3012110 3012280 3012210 3012211 3012211 exon -22 0.6666667 AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGTGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA mutant 148 170 0.85 0.85 0.85 110 747 0.9323061 0.9741202 0.9532132 0.85 0.8414396 0.9407875 0.9547649 0 0.008560375 -0.008481381 0.01935529 0.8457198 0.9477762 0.004280188 0.005436956 0.001156768 FALSE FALSE 0.003 -1.959 rs112112805 synonymous_variant LOW TEAD4 HGNC 11717 ENST00000544666 2/8 rs112112805&COSM2205223 1 NA T:0.0002 T:0 GCG C,T 0.0001318 12:3012211 TEAD4 HGNC Symbol protein_coding 81343 ENSG00000197905 ENSE00003653885 stop_gained 1.721389 0.16272 0.03459 0.722319 0.8462967 0 NA NA 0.000125986 ENSE00001704022_010 ENSE00001704022 010 12 3121277 3121446 + 59 63 48 G A 3121419 184 143 TGGCCACCACTCCTGGCCACTCCAGCATCCCCACTGCAGTTTCCTTACCTTTAGCTTGGCCTGGATCTCGCGAGCTTTGCGACGAGCCAGCACCTGGATGTGGCTGGAGACCTGTGGCAGGGAGAGAGGACTCCTGTCTCTACCTCCCAACAACCTGTGTTCCCCAGCCT 3012110 3012280 3012252 3012253 3012253 downstr_intron 21 1.446809 AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGATGCTGGAGTGGCCAGGAGTGGTGGCCA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA mutant 55 93 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8414396 0.9407875 0.9547649 0 0.008560375 NA NA 0.8457198 0.9477762 0.004280188 NA NA NA FALSE 0.006 0.01 . intron_variant MODIFIER TEAD4 HGNC 11717 ENST00000544666 2/7 1 NA GGT G,A 1.647e-05 12:3012253 TEAD4 HGNC Symbol protein_coding 81343 ENSG00000197905 ENSE00003653885 intron_variant 0.191557 0.13812 0.01073 0.055982 0.6888756 0.0489884 NA NA 2.04215e-05 ENSE00001704022_011 ENSE00001704022 011 12 3121277 3121446 + 59 63 48 G A 3121424 185 148 TGGCCACCACTCCTGGCCACTCTAGCACCCCCACTGCAGTTTCCTTACCTTTAGCTTGGCCTGGATCTCGCGAGCTTTGCGACGAGCCAGCACCTGGATGTGGCTGGAGACCTGTGGCAGGGAGAGAGGACTCCTGTCTCTACCTCCCAACAACCTGTGTTCCCCAGCCT 3012110 3012280 3012257 3012258 3012258 downstr_intron 26 1.553191 AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTAGAGTGGCCAGGAGTGGTGGCCA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA mutant 34 26 0.85 0.85 0.85 82 2357 0.8499167 0.8941925 0.8720546 0.85 0.8414396 0.9407875 0.9547649 0 0.008560375 -0.09087078 -0.06057239 0.8457198 0.9477762 0.004280188 -0.07572158 0.08000177 FALSE FALSE 0 -1.491 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:3012258 TEAD4 HGNC Symbol protein_coding 81343 ENSG00000197905 ENSE00003653885 intron_variant 0.301319 0.14158 0.03965 0.055982 0.842171 0.0489884 NA NA 1.23623e-05 ENSE00001704022_012 ENSE00001704022 012 12 3121277 3121446 + 59 63 48 G C 3121424 186 148 TGGCCACCACTCCTGGCCACTCGAGCACCCCCACTGCAGTTTCCTTACCTTTAGCTTGGCCTGGATCTCGCGAGCTTTGCGACGAGCCAGCACCTGGATGTGGCTGGAGACCTGTGGCAGGGAGAGAGGACTCCTGTCTCTACCTCCCAACAACCTGTGTTCCCCAGCCT 3012110 3012280 3012257 3012258 3012258 downstr_intron 26 1.553191 AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTCGAGTGGCCAGGAGTGGTGGCCA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA mutant 158 213 0.85 0.85 0.85 92 351 0.95 0.896557 0.9232785 0.85 0.8414396 0.9407875 0.9547649 0 0.008560375 0.00921251 -0.05820792 0.8457198 0.9477762 0.004280188 -0.02449771 0.02877789 FALSE FALSE 0 -1.491 NA NA NA TEAD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEAD4 NA NA NA ENSG00000197905 ENSE00003653885 intron_variant -0.012107 0.13427 0.01359 0.055982 0.7353697 0.0489884 NA NA 4.12075e-06 ENSE00001704022_BRK ENSE00001704022 BRK 12 3121277 3121446 + 59 63 48 A,G; T,T NA NA NA TGGCCACCACTCCTGGCCACTCCAGCACCCCCACTGCAGTTTCCTTGGCTTTAGCTTGGCCTGGATCTCGCGAGCTTTGCGACGAGCCAGCACCTGGATGTGGCTGGAGACAAGTGGCAGGGAGAGAGGACTCCTGTCTCTACCTCCCAACAACCTGTGTTCCCCAGCCT 3012110 3012280 NA NA NA NA NA NA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACTTGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGCCAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA AGGCTGGGGAACACAGGTTGTTGGGAGGTAGAGACAGGAGTCCTCTCTCCCTGCCACAGGTCTCCAGCCACATCCAGGTGCTGGCTCGTCGCAAAGCTCGCGAGATCCAGGCCAAGCTAAAGGTAAGGAAACTGCAGTGGGGGTGCTGGAGTGGCCAGGAGTGGTGGCCA control 89 82 0 0 0 NA NA NA NA NA 0.85 0.8414396 0.9407875 0.9547649 -0.85 -0.8414396 NA NA 0.8457198 0.9477762 -0.8457198 NA NA NA TRUE NA NA NA NA NA TEAD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEAD4 NA NA NA ENSG00000197905 ENSE00003653885 NA NA NA NA NA NA NA NA NA NA ENSE00001704164_000 ENSE00001704164 000 12 57693842 57694011 - 36 87 47 NA NA NA NA NA TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC 57300058 57300228 NA NA NA NA NA NA TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC natural NA NA NA NA NA 1830 421 0.8476979 0.9874193 0.9175586 NA NA 0.8476979 0.9874193 NA NA 0 0 NA 0.9175586 NA 0 NA FALSE NA NA NA NA NA NA R3HDM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA R3HDM2 NA NA NA ENSG00000179912 ENSE00003547281 NA NA NA NA NA NA NA 0.9959286 TRUE NA ENSE00001704164_001 ENSE00001704164 001 12 57693842 57694011 - 36 87 47 A G 57693855 2172 157 TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGCGTAGCTTTTGCGC 57300058 57300228 57300071 57300072 57300072 downstr_intron 23 1.657143 TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGCGTAGCTTTTGCGC TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC mutant NA NA NA NA NA 337 83 0.9903099 1 0.9951549 NA NA 0.8476979 0.9874193 NA NA 0.142612 0.01258069 NA 0.9175586 NA 0.07759636 NA FALSE NA 0.002 0.828 . upstream_gene_variant MODIFIER R3HDM2 HGNC 29167 ENST00000393811 1 NA CAC A,G 7.746e-05 12:57300072 R3HDM2 HGNC Symbol protein_coding 177243 ENSG00000179912 ENSE00003547281 intron_variant 0.369958 0.23266 0.08037 0.295142 0.6834036 0.0526269 0.9959286 TRUE 5.29192e-05 ENSE00001704164_002 ENSE00001704164 002 12 57693842 57694011 - 36 87 47 G T 57693882 2173 130 TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAAACCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC 57300058 57300228 57300098 57300099 57300099 exon -5 0.954023 TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAAACCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC mutant NA NA NA NA NA 40 36 1 0.9989358 0.9994679 NA NA 0.8476979 0.9874193 NA NA 0.1523021 0.0115165 NA 0.9175586 NA 0.08190932 NA FALSE NA 1 2.597 . upstream_gene_variant MODIFIER R3HDM2 HGNC 29167 ENST00000393811 1 NA GGT G,T 3.899e-05 12:57300099 R3HDM2 HGNC Symbol protein_coding 177243 ENSG00000179912 ENSE00003547281 missense_variant 1.631174 0.98501 0.98049 0.706548 0.819049 0 0.9959286 TRUE 2.63957e-05 ENSE00001704164_006 ENSE00001704164 006 12 57693842 57694011 - 36 87 47 C T 57693944 2177 68 TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTAGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC 57300058 57300228 57300160 57300161 57300161 exon 21 0.2413793 TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTAGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC TATAAGATACATTAAAAAAATTGAAAATTGTTTTTTGTTTTTTTCAGTCTAATTCCAAGCTAAAGTTGGTGCGTAGCCTGGCAGTGTGTGAGGAGTCCTCCACCCCATTTGCTGATGGGCCATTAGAAACCCAGGTAGGTCATTTGCAGGAGTAAGTGTAGCTTTTGCGC mutant NA NA NA NA NA 703 152 0.821408 0.8660704 0.8437392 NA NA 0.8476979 0.9874193 NA NA -0.02628982 -0.1213489 NA 0.9175586 NA -0.07381935 NA FALSE NA 1 1.414 . upstream_gene_variant MODIFIER R3HDM2 HGNC 29167 ENST00000393811 1 NA CCA C,T 3.961e-05 12:57300161 R3HDM2 HGNC Symbol protein_coding 177243 ENSG00000179912 ENSE00003547281 synonymous_variant 1.878621 0.98084 0.93246 0.706548 0.7442954 0 0.9959286 TRUE 3.96474e-05 ENSE00001704332_000 ENSE00001704332 000 7 74300510 74300679 - 30 99 41 NA NA NA NA NA TTGGTCTTATTTCCATTCTCTTGGTTTTCCCTCCTCACCAGCACCGAGAAGTCCGCGTGAAGTGCGTGAAGGCTCTGAAAGGGCTGTACGGTAACCGGGACCTGACCGCACGCCTGGAGCTCTTCACTGGCCGCTTCAAGGTGAGACGGGTGGTGCTCCTTGGCTTGGCT 74884403 74884565 NA NA NA NA NA NA TTGGTCTTATTTCCATTCTCTTGGTTTTCCCTCCTCACCAGCACCGAGAAGTCCGCGTGAAGTGCGTGAAGGCTCTGAAAGGGCTGTACGGTAACCGGGACCTGACCGCACGCCTGGAGCTCTTCACTGGCCGCTTCAAGGTGAGACGGGTGGTGCTCCTTGGCTTGGCT TTGGTCTTATTTCCATTCTCTTGGTTTTCCCTCCTCACCAGCACCGAGAAGTCCGCGTGAAGTGCGTGAAGGCTCTGAAAGGGCTGTACGGTAACCGGGACCTGACCGCACGCCTGGAGCTCTTCACTGGCCGCTTCAAGGTGAGACGGGTGGTGCTCCTTGGCTTGGCT natural NA NA NA NA NA 180 646 0.9680125 0.9935807 0.9807966 NA NA 0.9680125 0.9935807 NA NA 0 0 NA 0.9807966 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA NA NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001704336_000 ENSE00001704336 000 10 131641354 131641523 - 47 66 57 NA NA NA NA NA GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA 129843089 129843259 NA NA NA NA NA NA GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA natural 34 38 0.9997548 0.9995679 0.9996613 430 1200 0.9993281 0.810238 0.904783 0.9997548 0.9995679 0.9993281 0.810238 0 0 0 0 0.9996613 0.904783 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EBF3 NA NA NA ENSG00000108001 ENSE00002473636 NA NA NA NA NA NA NA 0.99859 TRUE NA ENSE00001704336_005 ENSE00001704336 005 10 131641354 131641523 - 47 66 57 C T 131641387 2875 137 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCAGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA 129843089 129843259 129843122 129843123 129843123 downstr_intron 14 1.304348 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCAGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA mutant NA NA NA NA NA 240 50 1 1 1 0.9997548 0.9995679 0.9993281 0.810238 NA NA 0.0006718718 0.189762 0.9996613 0.904783 NA 0.09521696 NA FALSE NA 0 -5.299 NA NA NA MIR4297 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:129843123 EBF3 HGNC Symbol protein_coding 128558 ENSG00000108001 ENSE00002473636 intron_variant -0.600299 0.09294 0.00165 0.055982 0.6357088 0.0541488 0.99859 TRUE 5.39379e-05 ENSE00001704336_010 ENSE00001704336 010 10 131641354 131641523 - 47 66 57 G A 131641410 2880 114 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCATAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA 129843089 129843259 129843145 129843146 129843146 exon -10 0.8636364 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCATAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA mutant NA NA NA NA NA 82 12 1 1 1 0.9997548 0.9995679 0.9993281 0.810238 NA NA 0.0006718718 0.189762 0.9996613 0.904783 NA 0.09521696 NA FALSE NA 1 1.623 . downstream_gene_variant MODIFIER MIR4297 HGNC 38393 ENST00000579857 1 NA TGT G,A 8.237e-06 10:129843146 EBF3 HGNC Symbol protein_coding 128558 ENSG00000108001 ENSE00002473636 synonymous_variant 0.312972 0.98095 0.86649 0.615465 0.8507514 0 0.99859 TRUE 1.22911e-05 ENSE00001704336_013 ENSE00001704336 013 10 131641354 131641523 - 47 66 57 C T 131641434 2883 90 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTAGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA 129843089 129843259 129843169 129843170 129843170 exon 33 0.5 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTAGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA mutant NA NA NA NA NA 47 51 1 1 1 0.9997548 0.9995679 0.9993281 0.810238 NA NA 0.0006718718 0.189762 0.9996613 0.904783 NA 0.09521696 NA FALSE NA 0.984 0.215 . downstream_gene_variant MODIFIER MIR4297 HGNC 38393 ENST00000579857 1 NA CCA C,T 8.236e-06 10:129843170 EBF3 HGNC Symbol protein_coding 128558 ENSG00000108001 ENSE00002473636 synonymous_variant 1.562185 0.97471 0.77468 0.615465 0.7484405 0 0.99859 TRUE NA ENSE00001704336_015 ENSE00001704336 015 10 131641354 131641523 - 47 66 57 G A 131641447 2885 77 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGTGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA 129843089 129843259 129843182 129843183 129843183 exon 20 0.3030303 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGTGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA mutant 18 24 0.9983962 0.9997805 0.9990884 NA NA NA NA NA 0.9997548 0.9995679 0.9993281 0.810238 -0.001358533 0.000212599 NA NA 0.9996613 0.904783 -0.000572967 NA NA NA FALSE 1 9.782 . downstream_gene_variant MODIFIER MIR4297 HGNC 38393 ENST00000579857 rs546805685&COSM1204867&COSM1204868 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGC G,A 2.471e-05 10:129843183 EBF3 HGNC Symbol protein_coding 128558 ENSG00000108001 ENSE00002473636 missense_variant 5.049083 0.99597 0.99313 0.615465 0.9972113 0 0.99859 TRUE 1.2383e-05 ENSE00001704336_019 ENSE00001704336 019 10 131641354 131641523 - 47 66 57 G T 131641476 2889 48 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTATTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA 129843089 129843259 129843211 129843212 129843212 upstr_intron -10 -0.1578947 GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTATTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA GCAGTGATAACTGGCCGGTTCCTCCCATGAATCACCTCCTGTCTGCTCTTCCTTTAGGAGGTGTTACTGAAGCGGGCGGCGGACCTGGTGGAAGCCTTATACGGAATGCCTCACAACAACCAGGTAGGTGGAGGGCGGCTCCCCTCGCCCATCCTCCCCCCCATGCCAGA mutant NA NA NA NA NA 46 554 0.9806161 1 0.9903081 0.9997548 0.9995679 0.9993281 0.810238 NA NA -0.01871201 0.189762 0.9996613 0.904783 NA 0.08552502 NA FALSE NA 0.96 1.319 . downstream_gene_variant MODIFIER MIR4297 HGNC 38393 ENST00000579857 1 NA AGA G,T 8.242e-06 10:129843212 EBF3 HGNC Symbol protein_coding 128558 ENSG00000108001 ENSE00002473636 intron_variant 0.720915 0.27889 0.61077 0.056701 0.8286895 0.0477131 0.99859 TRUE 8.71505e-06 ENSE00001705129_000 ENSE00001705129 000 17 73055563 73055732 + 42 96 32 NA NA NA NA NA GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 NA NA NA NA NA NA GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC natural NA NA NA NA NA 1540 736 0.9414568 0.9892977 0.9653773 NA NA 0.9414568 0.9892977 NA NA 0 0 NA 0.9653773 NA 0 NA FALSE NA NA NA NA NA NA KCTD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCTD2 NA NA NA ENSG00000180901 ENSE00003569482 NA NA NA NA NA NA NA 0.06189999 FALSE NA ENSE00001705129_001 ENSE00001705129 001 17 73055563 73055732 + 42 96 32 T C 73055573 3004 11 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCGCCAAGGACAC 75059467 75059637 75059477 75059478 75059478 upstr_intron -32 -0.7380952 GTGTCCTTGGCGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 354 224 1 1 1 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.01070227 NA 0.9653773 NA 0.03462274 NA FALSE NA 0 -0.363 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA GTG T,C 4.118e-05 17:75059478 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 non_coding_transcript_exon_variant 1.366168 0.15192 0.04653 0.160075 0.7899573 0.0760697 0.06189999 FALSE 8.14374e-05 ENSE00001705129_002 ENSE00001705129 002 17 73055563 73055732 + 42 96 32 C T 73055575 3005 13 GTGTCCTTGGTGTTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059479 75059480 75059480 upstr_intron -30 -0.6904762 GTGTCCTTGGTGTTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 387 540 1 0.9999295 0.9999647 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.01063177 NA 0.9653773 NA 0.03458749 NA FALSE NA 0 -1.333 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:75059480 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 non_coding_transcript_exon_variant 1.614803 0.15091 0.01988 0.160075 0.918366 0.122513 0.06189999 FALSE 4.71141e-05 ENSE00001705129_003 ENSE00001705129 003 17 73055563 73055732 + 42 96 32 C G 73055575 3006 13 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACACCACCAAGGACAC 75059467 75059637 75059479 75059480 75059480 upstr_intron -30 -0.6904762 GTGTCCTTGGTGGTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 1728 311 0.996161 0.9936574 0.9949092 NA NA 0.9414568 0.9892977 NA NA 0.05470424 0.004359669 NA 0.9653773 NA 0.02953196 NA FALSE NA 0 -1.333 NA NA NA KCTD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCTD2 NA NA NA ENSG00000180901 ENSE00003569482 non_coding_transcript_exon_variant 1.433259 0.19524 0.06701 0.160075 0.8091416 0.122513 0.06189999 FALSE 4.2831e-06 ENSE00001705129_004 ENSE00001705129 004 17 73055563 73055732 + 42 96 32 C T 73055586 3007 24 GTGTCCTTGGTGCTGTTCTCAGTTTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059490 75059491 75059491 upstr_intron -19 -0.4285714 GTGTCCTTGGTGCTGTTCTCAGTTTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 275 35 0.9961976 1 0.9980988 NA NA 0.9414568 0.9892977 NA NA 0.05474085 0.01070227 NA 0.9653773 NA 0.03272156 NA FALSE NA 0.001 0.099 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA TCT C,T 8.237e-06 17:75059491 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 non_coding_transcript_exon_variant 1.4392 0.18406 0.01299 0.160075 0.6916527 0.0590963 0.06189999 FALSE 1.66125e-05 ENSE00001705129_005 ENSE00001705129 005 17 73055563 73055732 + 42 96 32 C T 73055589 3008 27 GTGTCCTTGGTGCTGTTCTCAGTCTGTGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059493 75059494 75059494 upstr_intron -16 -0.3571429 GTGTCCTTGGTGCTGTTCTCAGTCTGTGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 365 532 0.9970311 0.9813687 0.9891999 NA NA 0.9414568 0.9892977 NA NA 0.05557433 -0.007929046 NA 0.9653773 NA 0.02382264 NA FALSE NA 0 0.119 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA GCG C,T 8.236e-06 17:75059494 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 non_coding_transcript_exon_variant 0.162081 0.14844 0.00227 0.160075 0.4840654 0.0590963 0.06189999 FALSE 2.48332e-05 ENSE00001705129_006 ENSE00001705129 006 17 73055563 73055732 + 42 96 32 G T 73055590 3009 28 GTGTCCTTGGTGCTGTTCTCAGTCTGCTCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059494 75059495 75059495 upstr_intron -15 -0.3333333 GTGTCCTTGGTGCTGTTCTCAGTCTGCTCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 103 202 0.9934266 0.991882 0.9926543 NA NA 0.9414568 0.9892977 NA NA 0.0519698 0.002584323 NA 0.9653773 NA 0.02727706 NA FALSE NA 0 -1.877 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA CGC G,T 3.295e-05 17:75059495 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 non_coding_transcript_exon_variant -0.147285 0.15291 0.01487 0.160075 0.4320789 0.0590963 0.06189999 FALSE 2.88898e-05 ENSE00001705129_007 ENSE00001705129 007 17 73055563 73055732 + 42 96 32 T C 73055593 3010 31 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCGGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059497 75059498 75059498 upstr_intron -12 -0.2619048 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCCGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 198 1923 0.9842433 0.9999177 0.9920805 NA NA 0.9414568 0.9892977 NA NA 0.04278654 0.01062002 NA 0.9653773 NA 0.02670328 NA FALSE NA 0.674 1.017 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 rs546175167 1 C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 CTG T,C 1.647e-05 17:75059498 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 non_coding_transcript_exon_variant 0.116829 0.3823 0.28071 0.160075 0.5561541 0.105919 0.06189999 FALSE 2.06072e-05 ENSE00001705129_008 ENSE00001705129 008 17 73055563 73055732 + 42 96 32 C A 73055610 3011 48 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACTGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059514 75059515 75059515 exon 6 0.0625 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCAGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 146 186 1 1 1 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.01070227 NA 0.9653773 NA 0.03462274 NA FALSE NA 0 -1.856 rs146827625 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 rs146827625 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0003 CCG C,A 0.0002224 17:75059515 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 3.116658 0.93351 0.23008 0.719381 0.7434273 0 0.06189999 FALSE 0.000159374 ENSE00001705129_010 ENSE00001705129 010 17 73055563 73055732 + 42 96 32 C T 73055619 3013 57 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCATGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059523 75059524 75059524 exon 15 0.15625 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCATGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 596 492 1 0.9974059 0.9987029 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.008108132 NA 0.9653773 NA 0.03332567 NA FALSE NA 0.001 -1.558 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA ACG C,T 1.647e-05 17:75059524 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 2.06838 0.88274 0.09951 0.719381 0.7512984 0 0.06189999 FALSE 2.03487e-05 ENSE00001705129_011 ENSE00001705129 011 17 73055563 73055732 + 42 96 32 T C 73055621 3014 59 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACGCGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059525 75059526 75059526 exon 17 0.1770833 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGCGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 311 768 1 0.9976819 0.998841 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.008384213 NA 0.9653773 NA 0.03346371 NA FALSE NA 1 7.961 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA GTG T,C 8.236e-06 17:75059526 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 missense_variant 5.855057 0.9888 0.98304 0.719381 0.99835 0 0.06189999 FALSE 4.06898e-06 ENSE00001705129_013 ENSE00001705129 013 17 73055563 73055732 + 42 96 32 T G 73055630 3016 68 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGCCTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059534 75059535 75059535 exon 26 0.2708333 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGGCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 649 498 0.998981 0.9988352 0.9989081 NA NA 0.9414568 0.9892977 NA NA 0.0575242 0.009537457 NA 0.9653773 NA 0.03353083 NA FALSE NA 1 7.961 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA GTC T,G 8.236e-06 17:75059535 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 missense_variant 6.324231 0.9933 0.9894 0.719381 0.9970919 0 0.06189999 FALSE NA ENSE00001705129_014 ENSE00001705129 014 17 73055563 73055732 + 42 96 32 C A 73055631 3017 69 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGTACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059535 75059536 75059536 exon 27 0.28125 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTACTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 37 1287 1 0.9996696 0.9998348 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.01037192 NA 0.9653773 NA 0.03445757 NA FALSE NA 0.798 -0.26 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA TCC C,A 8.236e-06 17:75059536 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 2.476845 0.96915 0.73207 0.719381 0.7293553 0 0.06189999 FALSE 1.6253e-05 ENSE00001705129_015 ENSE00001705129 015 17 73055563 73055732 + 42 96 32 C T 73055635 3018 73 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGTAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059539 75059540 75059540 exon 31 0.3229167 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGTAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 19 47 0.9978137 1 0.9989068 NA NA 0.9414568 0.9892977 NA NA 0.05635689 0.01070227 NA 0.9653773 NA 0.03352958 NA FALSE NA 1 7.741 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA GCA C,T 8.236e-06 17:75059540 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 stop_gained 12.75182 0.99162 0.98412 0.719381 0.9976857 0 0.06189999 FALSE 4.06299e-06 ENSE00001705129_016 ENSE00001705129 016 17 73055563 73055732 + 42 96 32 G T 73055639 3019 77 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTTTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059543 75059544 75059544 exon 35 0.3645833 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTTTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 1093 495 1 0.9999231 0.9999615 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.01062536 NA 0.9653773 NA 0.03458428 NA FALSE NA 1 9.77 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 rs376457589 1 NA T:0.0002 T:0 TGT G,T 2.471e-05 17:75059544 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 missense_variant 5.298958 0.99525 0.99435 0.719381 0.9942838 0 0.06189999 FALSE 1.62488e-05 ENSE00001705129_017 ENSE00001705129 017 17 73055563 73055732 + 42 96 32 C G 73055641 3020 79 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTCACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059545 75059546 75059546 exon 37 0.3854167 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTGAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 669 130 0.993644 1 0.996822 NA NA 0.9414568 0.9892977 NA NA 0.05218726 0.01070227 NA 0.9653773 NA 0.03144477 NA FALSE NA 1 5.847 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA TCA C,G 8.236e-06 17:75059546 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 missense_variant 3.667498 0.99154 0.98356 0.719381 0.993535 0 0.06189999 FALSE 1.21863e-05 ENSE00001705129_018 ENSE00001705129 018 17 73055563 73055732 + 42 96 32 G A 73055643 3021 81 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCTTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059547 75059548 75059548 exon 39 0.40625 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAAGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 296 155 0.9994425 1 0.9997213 NA NA 0.9414568 0.9892977 NA NA 0.05798576 0.01070227 NA 0.9653773 NA 0.03434401 NA FALSE NA 0.561 -0.05 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 rs368759395 1 NA A:0 A:0.0001 AGG G,A 3.295e-05 17:75059548 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 0.638327 0.95872 0.30266 0.719381 0.6151341 0 0.06189999 FALSE 3.6558e-05 ENSE00001705129_019 ENSE00001705129 019 17 73055563 73055732 + 42 96 32 A G 73055646 3022 84 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAGGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059550 75059551 75059551 exon 42 0.4375 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAGGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 542 259 1 0.9863232 0.9931616 NA NA 0.9414568 0.9892977 NA NA 0.05854321 -0.002974534 NA 0.9653773 NA 0.02778434 NA FALSE NA 0.99 0.205 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 rs528431195 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAG A,G 8.236e-06 17:75059551 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 0.6188 0.95645 0.41775 0.719381 0.4944482 0 0.06189999 FALSE 8.12381e-06 ENSE00001705129_021 ENSE00001705129 021 17 73055563 73055732 + 42 96 32 G A 73055661 3024 99 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATTTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059565 75059566 75059566 exon -40 0.59375 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAAATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 1576 270 0.9974354 1 0.9987177 NA NA 0.9414568 0.9892977 NA NA 0.05597863 0.01070227 NA 0.9653773 NA 0.03334045 NA FALSE NA 1 5.697 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 rs369247930 1 NA A:0 A:0.0001 AGA G,A 8.236e-06 17:75059566 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 0.401328 0.99182 0.98159 0.719381 0.6589005 0 0.06189999 FALSE 4.06171e-06 ENSE00001705129_022 ENSE00001705129 022 17 73055563 73055732 + 42 96 32 T C 73055666 3025 104 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACGCCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059570 75059571 75059571 exon -35 0.6458333 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGCGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 144 649 1 0.9978004 0.9989002 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.008502681 NA 0.9653773 NA 0.03352295 NA FALSE NA 1 7.961 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA GTG T,C 8.236e-06 17:75059571 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 missense_variant 4.106916 0.99328 0.98721 0.719381 0.9968283 0 0.06189999 FALSE 4.0622e-06 ENSE00001705129_023 ENSE00001705129 023 17 73055563 73055732 + 42 96 32 G A 73055673 3026 111 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATTGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059577 75059578 75059578 exon -28 0.71875 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACAATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 15 219 0.8 1 0.9 NA NA 0.9414568 0.9892977 NA NA -0.1414568 0.01070227 NA 0.9653773 NA -0.06537726 NA FALSE NA 0 -2.985 rs146067407 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 rs146067407 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 A:0.0002 A:0 CGA G,A 4.942e-05 17:75059578 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 0.904479 0.89219 0.12546 0.719381 0.6694213 0 0.06189999 FALSE 3.24976e-05 ENSE00001705129_024 ENSE00001705129 024 17 73055563 73055732 + 42 96 32 C T 73055682 3027 120 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGATGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059586 75059587 75059587 exon -19 0.8125 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGATGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 1312 240 0.9572568 1 0.9786284 NA NA 0.9414568 0.9892977 NA NA 0.01580006 0.01070227 NA 0.9653773 NA 0.01325117 NA FALSE NA 0.021 -0.911 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA ACG C,T 2.471e-05 17:75059587 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 1.379496 0.91811 0.09447 0.719381 0.5697037 0 0.06189999 FALSE 8.12486e-06 ENSE00001705129_025 ENSE00001705129 025 17 73055563 73055732 + 42 96 32 G A 73055683 3028 121 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGAATTTCCAGCTGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059587 75059588 75059588 exon -18 0.8229167 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACAGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 595 131 0.9999308 1 0.9999654 NA NA 0.9414568 0.9892977 NA NA 0.05847403 0.01070227 NA 0.9653773 NA 0.03458815 NA FALSE NA 1 9.77 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA CGG G,A 8.236e-06 17:75059588 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 missense_variant 5.540135 0.99697 0.99599 0.719381 0.9979099 0 0.06189999 FALSE 8.12433e-06 ENSE00001705129_026 ENSE00001705129 026 17 73055563 73055732 + 42 96 32 T G 73055693 3029 131 GCCTGGGATTGCTGCTCTGTTAAGAGATGTACCTGTTCGCATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059597 75059598 75059598 exon -8 0.9270833 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATGCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 1179 273 0.998454 1 0.999227 NA NA 0.9414568 0.9892977 NA NA 0.05699717 0.01070227 NA 0.9653773 NA 0.03384972 NA FALSE NA 1 7.961 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA TTC T,G 8.236e-06 17:75059598 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 missense_variant 6.102422 0.99235 0.99182 0.719381 0.9924323 0 0.06189999 FALSE 4.06286e-06 ENSE00001705129_027 ENSE00001705129 027 17 73055563 73055732 + 42 96 32 C T 73055694 3030 132 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTTGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059598 75059599 75059599 exon -7 0.9375 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTTGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 270 182 1 1 1 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.01070227 NA 0.9653773 NA 0.03462274 NA FALSE NA 0.996 0.337 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/3 1 NA TCG C,T 8.236e-06 17:75059599 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 synonymous_variant 2.059468 0.94125 0.39241 0.719381 0.6333432 0 0.06189999 FALSE 4.06464e-06 ENSE00001705129_028 ENSE00001705129 028 17 73055563 73055732 + 42 96 32 A T 73055705 3031 143 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACTTCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059609 75059610 75059610 downstr_intron 5 1.16129 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACTTCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 857 1672 0.9902813 0.9937636 0.9920225 NA NA 0.9414568 0.9892977 NA NA 0.04882455 0.004465888 NA 0.9653773 NA 0.02664522 NA FALSE NA 0 -0.336 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:75059610 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 splice_region_variant 0.297824 0.23452 0.04297 0.093477 0.628133 0.0606269 0.06189999 FALSE 8.14412e-06 ENSE00001705129_029 ENSE00001705129 029 17 73055563 73055732 + 42 96 32 A C 73055705 3032 143 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACCTCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 75059609 75059610 75059610 downstr_intron 5 1.16129 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACCTCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 323 210 0.9994892 1 0.9997446 NA NA 0.9414568 0.9892977 NA NA 0.05803246 0.01070227 NA 0.9653773 NA 0.03436737 NA FALSE NA 0 -0.336 NA NA NA KCTD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCTD2 NA NA NA ENSG00000180901 ENSE00003569482 splice_region_variant 0.301993 0.20103 0.03139 0.093477 0.5468108 0.0606269 0.06189999 FALSE 4.07206e-06 ENSE00001705129_030 ENSE00001705129 030 17 73055563 73055732 + 42 96 32 T C 73055710 3033 148 GCCTGGGATTGCTGCTCTGTTAGGAGATGTACCTGTTCGAATTTCCAGCCGTCGGACATCGTGGACACCATCTGCGTGAGCTCTTCTTCCTGACACTGCAGGACTCTGTACACGTGCTTCACGGGGCCCTGCAATGACCAGGCGCAGACTGAGAACAGCACCAAGGACAC 75059467 75059637 75059614 75059615 75059615 downstr_intron 10 1.322581 GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCCTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC mutant NA NA NA NA NA 692 97 1 1 1 NA NA 0.9414568 0.9892977 NA NA 0.05854321 0.01070227 NA 0.9653773 NA 0.03462274 NA FALSE NA 0 -0.654 . intron_variant&non_coding_transcript_variant MODIFIER KCTD2 HGNC 21294 ENST00000579230 1/2 1 NA CTT T,C 4.942e-05 17:75059615 KCTD2 HGNC Symbol protein_coding 33314 ENSG00000180901 ENSE00003569482 intron_variant 0.609907 0.24445 0.0298 0.093477 0.5830656 0.0526402 0.06189999 FALSE 3.26771e-05 ENSE00001705129_BRK ENSE00001705129 BRK 17 73055563 73055732 + 42 96 32 A,G; T,T NA NA NA GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCTTGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGCCACATCTCTTAACAGAGCAGCAATCCCAGGC 75059467 75059637 NA NA NA NA NA NA GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCTTGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGCCACATCTCTTAACAGAGCAGCAATCCCAGGC GTGTCCTTGGTGCTGTTCTCAGTCTGCGCCTGGTCATTGCAGGGCCCCGTGAAGCACGTGTACAGAGTCCTGCAGTGTCAGGAAGAAGAGCTCACGCAGATGGTGTCCACGATGTCCGACGGCTGGAAATTCGAACAGGTACATCTCTTAACAGAGCAGCAATCCCAGGC control NA NA NA NA NA 1072 237 0.00337954 0.00349745 0.003438495 NA NA 0.9414568 0.9892977 NA NA -0.9380772 -0.9858003 NA 0.9653773 NA -0.9619388 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCTD2 NA NA NA ENSG00000180901 ENSE00003569482 NA NA NA NA NA NA NA 0.06189999 FALSE NA ENSE00001707197_000 ENSE00001707197 000 9 125143895 125144064 + 48 84 38 NA NA NA NA NA GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGATTGTCTCCATAAATGTGGCCGAGGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 NA NA NA NA NA NA AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC natural 71 87 0.9824093 0.9895593 0.9859843 948 568 0.9798244 0.9916917 0.9857581 0.9824093 0.9895593 0.9798244 0.9916917 0 0 0 0 0.9859843 0.9857581 0 0 0 FALSE FALSE NA NA NA NA NA PTGS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTGS1 NA NA NA ENSG00000095303 ENSE00001707197 NA NA NA NA NA NA NA 6.412631e-06 FALSE NA ENSE00001707197_003 ENSE00001707197 003 9 125143895 125144064 + 48 84 38 G A 125143923 2325 29 GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGATTGTCTCCATAAATGTGGCCGAGGTCTACCTGTGGACAGAGAGGGGTTTCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381643 122381644 122381644 upstr_intron -20 -0.3958333 AGTGGGCCGGCACCCTGGTGACCTGAGGAAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 14 47 1 1 1 0.9824093 0.9895593 0.9798244 0.9916917 NA NA 0.02017563 0.00830826 0.9859843 0.9857581 NA 0.01424194 NA FALSE NA 0 0.593 . intron_variant MODIFIER PTGS1 HGNC 9604 ENST00000362012 6/10 1 NA GGA G,A 1.647e-05 9:122381644 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 intron_variant 0.170221 0.24877 0.16039 0.062308 0.4076069 0.109768 6.412631e-06 FALSE 8.12625e-06 ENSE00001707197_007 ENSE00001707197 007 9 125143895 125144064 + 48 84 38 C T 125143949 2329 55 GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGATTGTCTCCATAAATGTGGCCGAAGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381669 122381670 122381670 exon 7 0.08333333 AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACTTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 219 88 0.9957911 1 0.9978955 0.9824093 0.9895593 0.9798244 0.9916917 NA NA 0.0159667 0.00830826 0.9859843 0.9857581 NA 0.01213748 NA FALSE NA 1 3.847 . missense_variant MODERATE PTGS1 HGNC 9604 ENST00000362012 7/11 1 tolerated(0.07) probably_damaging(0.955) NA CCT C,T 8.236e-06 9:122381670 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 missense_variant 5.818155 0.98223 0.89195 0.706548 0.9983033 0 6.412631e-06 FALSE 4.06161e-06 ENSE00001707197_009 ENSE00001707197 009 9 125143895 125144064 + 48 84 38 G A 125143952 2331 58 GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGATTGTCTCCATAAATGTGGCTGAGGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381672 122381673 122381673 exon 10 0.1190476 AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCAGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 59 14 0.9942827 1 0.9971414 0.9824093 0.9895593 0.9798244 0.9916917 NA NA 0.01445836 0.00830826 0.9859843 0.9857581 NA 0.01138331 NA FALSE NA 1 3.174 rs3842795 missense_variant MODERATE PTGS1 HGNC 9604 ENST00000362012 7/11 rs3842795&COSM3903788&CM071953 1 tolerated(1) possibly_damaging(0.54) A:0.0024 A:0.0091 A:0 NA A:0 A:0 A:0 A:0.0073 A:0 CGG G,A 0.0007825 9:122381673 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 missense_variant 3.300035 0.96621 0.87169 0.706548 0.6018241 0 6.412631e-06 FALSE 0.000588943 ENSE00001707197_010 ENSE00001707197 010 9 125143895 125144064 + 48 84 38 T C 125143963 2332 69 GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGATTGTCTCCGTAAATGTGGCCGAGGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381683 122381684 122381684 exon 21 0.25 AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTACGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 152 50 1 1 1 0.9824093 0.9895593 0.9798244 0.9916917 NA NA 0.02017563 0.00830826 0.9859843 0.9857581 NA 0.01424194 NA FALSE NA 1 0.428 . synonymous_variant LOW PTGS1 HGNC 9604 ENST00000362012 7/11 1 NA ATG T,C 1.647e-05 9:122381684 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 synonymous_variant -0.101841 0.97363 0.8011 0.706548 0.4982374 0 6.412631e-06 FALSE 1.62462e-05 ENSE00001707197_012 ENSE00001707197 012 9 125143895 125144064 + 48 84 38 A G 125143971 2334 77 GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGACTGTCTCCATAAATGTGGCCGAGGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381691 122381692 122381692 exon 29 0.3452381 AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAGTCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 335 134 1 1 1 0.9824093 0.9895593 0.9798244 0.9916917 NA NA 0.02017563 0.00830826 0.9859843 0.9857581 NA 0.01424194 NA FALSE NA 0.002 0.147 . missense_variant MODERATE PTGS1 HGNC 9604 ENST00000362012 7/11 1 tolerated(0.24) benign(0.006) NA AAT A,G 8.236e-06 9:122381692 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 missense_variant 0.123431 0.7491 0.16455 0.706548 0.790674 0 6.412631e-06 FALSE 1.21851e-05 ENSE00001707197_013 ENSE00001707197 013 9 125143895 125144064 + 48 84 38 T G 125143972 2335 78 GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGCTTGTCTCCATAAATGTGGCCGAGGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381692 122381693 122381693 exon 30 0.3571429 AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAAGCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 397 30 1 1 1 0.9824093 0.9895593 0.9798244 0.9916917 NA NA 0.02017563 0.00830826 0.9859843 0.9857581 NA 0.01424194 NA FALSE NA 0 -0.831 . missense_variant MODERATE PTGS1 HGNC 9604 ENST00000362012 7/11 1 tolerated(0.06) possibly_damaging(0.46) NA ATC T,G 8.236e-06 9:122381693 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 missense_variant 2.438903 0.73187 0.1309 0.706548 0.9655534 0 6.412631e-06 FALSE 4.06161e-06 ENSE00001707197_018 ENSE00001707197 018 9 125143895 125144064 + 48 84 38 A G 125143990 2340 96 GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGCTGATACTGACGCTCCAGATTGTCTCCATAAATGTGGCCGAGGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381710 122381711 122381711 exon -37 0.5714286 AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAGCTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 45 131 0.9421001 0.8353275 0.8887138 0.9824093 0.9895593 0.9798244 0.9916917 NA NA -0.03772423 -0.1563642 0.9859843 0.9857581 NA -0.09704423 NA FALSE NA 0.486 -0.11 . synonymous_variant LOW PTGS1 HGNC 9604 ENST00000362012 7/11 1 NA AAC A,G 8.236e-06 9:122381711 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 synonymous_variant 0.445261 0.94644 0.29729 0.706548 0.3659655 0 6.412631e-06 FALSE NA ENSE00001707197_026 ENSE00001707197 026 9 125143895 125144064 + 48 84 38 G A 125144036 2348 142 GACCCCTCCCTCTGCCCTACCCCCTGGCTCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGATTGTCTCCATAAATGTGGCCGAGGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381756 122381757 122381757 downstr_intron 10 1.27027 AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGAGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 89 75 0.9506809 0.9360523 0.9433666 0.9824093 0.9895593 0.9798244 0.9916917 NA NA -0.02914345 -0.05563945 0.9859843 0.9857581 NA -0.04239145 NA FALSE NA 0.022 1.755 rs192430192 intron_variant MODIFIER PTGS1 HGNC 9604 ENST00000362012 7/10 rs192430192 1 A:0.0212 A:0.0764 A:0.0072 NA A:0 A:0 A:0 GGG G,A 0.006542 9:122381757 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 intron_variant 0.788291 0.24772 0.13881 0.099367 0.6417484 0.198986 6.412631e-06 FALSE 0.0051113 ENSE00001707197_029 ENSE00001707197 029 9 125143895 125144064 + 48 84 38 G C 125144043 2351 149 GACCCCTCCCTCTGCCCTACCGCCTGGCCCAGCACTACCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGATTGTCTCCATAAATGTGGCCGAGGTCTACCTGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 122381763 122381764 122381764 downstr_intron 17 1.459459 AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGCGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC mutant NA NA NA NA NA 366 57 1 0.9972152 0.9986076 0.9824093 0.9895593 0.9798244 0.9916917 NA NA 0.02017563 0.005523448 0.9859843 0.9857581 NA 0.01284954 NA FALSE NA 0.002 -0.236 . intron_variant MODIFIER PTGS1 HGNC 9604 ENST00000362012 7/10 rs200316198 1 NA GGG G,C 8.237e-06 9:122381764 PTGS1 HGNC Symbol protein_coding 25173 ENSG00000095303 ENSE00001707197 intron_variant -0.229836 0.18497 0.08197 0.099367 0.5043282 0.0770211 6.412631e-06 FALSE 1.2326e-05 ENSE00001707197_BRK ENSE00001707197 BRK 9 125143895 125144064 + 48 84 38 A,G; T,T NA NA NA GACCCCTCCCTCTGCCCTACCCCCTGGCCCAGCACTGGCTGGTACTTGAGTTTCCCATCCTTAAAGAGCCGCAGTTGATACTGACGCTCCAGATTGTCTCCATAAATGTGGCCGAGGTCTACAAGTGGACAGAGAGGGGTTCCCTCAGGTCACCAGGGTGCCGGCCCACT 122381615 122381785 NA NA NA NA NA NA AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACTTGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGCCAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC AGTGGGCCGGCACCCTGGTGACCTGAGGGAACCCCTCTCTGTCCACAGGTAGACCTCGGCCACATTTATGGAGACAATCTGGAGCGTCAGTATCAACTGCGGCTCTTTAAGGATGGGAAACTCAAGTACCAGGTAGTGCTGGGCCAGGGGGTAGGGCAGAGGGAGGGGTC control 104 40 0 0 0 NA NA NA NA NA 0.9824093 0.9895593 0.9798244 0.9916917 -0.9824093 -0.9895593 NA NA 0.9859843 0.9857581 -0.9859843 NA NA NA TRUE NA NA NA NA NA PTGS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTGS1 NA NA NA ENSG00000095303 ENSE00001707197 NA NA NA NA NA NA NA 6.412631e-06 FALSE NA ENSE00001708226_000 ENSE00001708226 000 6 30113729 30113898 + 42 96 32 NA NA NA NA NA GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 NA NA NA NA NA NA CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC natural 89 176 0.9918134 0.834693 0.9132532 4261 2412 0.996597 0.9932231 0.99491 0.9918134 0.834693 0.996597 0.9932231 0 0 0 0 0.9132532 0.99491 0 0 0 FALSE FALSE NA NA NA NA NA TRIM40 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM40 NA NA NA ENSG00000204614 ENSE00001708226 NA NA NA NA NA NA NA 1.530551e-07 FALSE NA ENSE00001708226_001 ENSE00001708226 001 6 30113729 30113898 + 42 96 32 C G 30113746 391 18 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTCTCAGACTGGGAGTGAGG 30145951 30146121 30145968 30145969 30145969 upstr_intron -25 -0.5714286 CCTCACTCCCAGTCTGAGAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 121 508 0.9832519 0.9981815 0.9907167 0.9918134 0.834693 0.996597 0.9932231 NA NA -0.01334507 0.004958435 0.9132532 0.99491 NA -0.004193318 NA FALSE NA 0 -0.339 . intron_variant MODIFIER TRIM40 HGNC 18736 ENST00000396581 2/5 1 NA ACA C,G 8.485e-06 6:30145969 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 intron_variant 0.665835 0.15906 0.0507 0.074388 0.7562065 0.191945 1.530551e-07 FALSE 4.1578e-06 ENSE00001708226_002 ENSE00001708226 002 6 30113729 30113898 + 42 96 32 G T 30113761 392 33 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGAAAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30145983 30145984 30145984 upstr_intron -10 -0.2142857 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTTTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 135 33 0.9996948 1 0.9998474 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.003097806 0.006776908 0.9132532 0.99491 NA 0.004937357 NA FALSE NA 0 -0.787 . intron_variant MODIFIER TRIM40 HGNC 18736 ENST00000396581 2/5 1 NA TGT G,T 1.695e-05 6:30145984 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 intron_variant 0.123777 0.16928 0.01683 0.087844 0.5678042 0.261562 1.530551e-07 FALSE 8.3031e-06 ENSE00001708226_003 ENSE00001708226 003 6 30113729 30113898 + 42 96 32 C G 30113763 393 35 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGACACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30145985 30145986 30145986 upstr_intron -8 -0.1666667 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTGTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 194 64 1 0.939999 0.9699995 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.003403045 -0.05322409 0.9132532 0.99491 NA -0.02491052 NA FALSE NA 0.001 -1.232 . splice_region_variant&intron_variant LOW TRIM40 HGNC 18736 ENST00000396581 2/5 1 NA TCT C,G 8.474e-06 6:30145986 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 splice_region_variant 0.006585 0.19067 0.01605 0.087844 0.5415384 0.264769 1.530551e-07 FALSE 4.15096e-06 ENSE00001708226_009 ENSE00001708226 009 6 30113729 30113898 + 42 96 32 G A 30113784 399 56 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGTGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146006 30146007 30146007 exon 14 0.1458333 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCACCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 275 264 0.973316 0.9994005 0.9863583 0.9918134 0.834693 0.996597 0.9932231 NA NA -0.02328092 0.006177374 0.9132532 0.99491 NA -0.008551772 NA FALSE NA 0.002 1.181 . missense_variant MODERATE TRIM40 HGNC 18736 ENST00000396581 3/6 1 deleterious(0.03) benign(0.091) NA CGC G,A 3.385e-05 6:30146007 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 missense_variant 1.89238 0.48777 0.04816 0.616025 0.9966164 0 1.530551e-07 FALSE 2.07446e-05 ENSE00001708226_010 ENSE00001708226 010 6 30113729 30113898 + 42 96 32 C T 30113786 400 58 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCAGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146008 30146009 30146009 exon 16 0.1666667 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCTGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 256 111 0.996905 0.9905681 0.9937366 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.0003080596 -0.002654952 0.9132532 0.99491 NA -0.001173446 NA FALSE NA 0 -0.628 . missense_variant MODERATE TRIM40 HGNC 18736 ENST00000396581 3/6 COSM184971 1 deleterious(0) probably_damaging(0.928) NA CCG C,T 8.461e-05 6:30146009 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 missense_variant 4.658195 0.16306 0.01672 0.616025 0.9811076 0 1.530551e-07 FALSE 7.05254e-05 ENSE00001708226_011 ENSE00001708226 011 6 30113729 30113898 + 42 96 32 G A 30113787 401 59 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCTGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146009 30146010 30146010 exon 17 0.1770833 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCAGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 114 416 1 1 1 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.003403045 0.006776908 0.9132532 0.99491 NA 0.005089977 NA FALSE NA 0.001 0.57 rs62407482 missense_variant MODERATE TRIM40 HGNC 18736 ENST00000396581 3/6 rs62407482 1 deleterious(0.02) benign(0.173) A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 CGG G,A 0.0002962 6:30146010 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 missense_variant 2.159723 0.17601 0.02553 0.616025 0.9856143 0 1.530551e-07 FALSE 0.000331931 ENSE00001708226_013 ENSE00001708226 013 6 30113729 30113898 + 42 96 32 G T 30113793 403 65 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCATGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146015 30146016 30146016 exon 23 0.2395833 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCATGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 526 217 0.9770851 0.9920841 0.9845846 0.9918134 0.834693 0.996597 0.9932231 NA NA -0.01951186 -0.001138953 0.9132532 0.99491 NA -0.01032541 NA FALSE NA 0.174 0.437 . missense_variant MODERATE TRIM40 HGNC 18736 ENST00000396581 3/6 1 deleterious(0) probably_damaging(0.935) NA AGG G,T 1.692e-05 6:30146016 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 missense_variant 4.787581 0.88477 0.15019 0.616025 0.9600325 0 1.530551e-07 FALSE 4.14783e-06 ENSE00001708226_014 ENSE00001708226 014 6 30113729 30113898 + 42 96 32 G T 30113794 404 66 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTACTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146016 30146017 30146017 exon 24 0.25 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGTAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 10 388 1 0.9995922 0.9997961 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.003403045 0.006369081 0.9132532 0.99491 NA 0.004886063 NA FALSE NA 0.265 1.157 . missense_variant MODERATE TRIM40 HGNC 18736 ENST00000396581 3/6 1 deleterious(0) possibly_damaging(0.642) NA GGA G,T 1.692e-05 6:30146017 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 missense_variant 4.197228 0.94892 0.41965 0.616025 0.990523 0 1.530551e-07 FALSE 4.14779e-06 ENSE00001708226_017 ENSE00001708226 017 6 30113729 30113898 + 42 96 32 C T 30113825 407 97 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCACTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146047 30146048 30146048 exon -42 0.5729167 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGTGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 67 869 1 0.9994286 0.9997143 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.003403045 0.00620555 0.9132532 0.99491 NA 0.004804297 NA FALSE NA 0 -0.154 . missense_variant MODERATE TRIM40 HGNC 18736 ENST00000396581 3/6 1 deleterious(0.01) probably_damaging(0.947) NA GCG C,T 3.384e-05 6:30146048 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 missense_variant 5.046391 0.15447 0.01312 0.616025 0.9976583 0 1.530551e-07 FALSE 4.14917e-05 ENSE00001708226_018 ENSE00001708226 018 6 30113729 30113898 + 42 96 32 G A 30113826 408 98 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCTGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146048 30146049 30146049 exon -41 0.5833333 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCAGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 48 384 1 1 1 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.003403045 0.006776908 0.9132532 0.99491 NA 0.005089977 NA FALSE NA 0 -0.112 . missense_variant MODERATE TRIM40 HGNC 18736 ENST00000396581 3/6 rs201192657 1 tolerated(0.24) benign(0.04) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGG G,A 0.00022 6:30146049 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 missense_variant 0.468609 0.11329 0.00902 0.616025 0.9097433 0 1.530551e-07 FALSE 0.000344353 ENSE00001708226_023 ENSE00001708226 023 6 30113729 30113898 + 42 96 32 G C 30113863 413 135 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGGAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146085 30146086 30146086 exon -4 0.96875 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTCCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 664 965 1 0.9995196 0.9997598 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.003403045 0.00629647 0.9132532 0.99491 NA 0.004849757 NA FALSE NA 0 -0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:30146086 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 synonymous_variant 0.165443 0.19586 0.02274 0.616025 0.6463762 0 1.530551e-07 FALSE 4.16872e-06 ENSE00001708226_024 ENSE00001708226 024 6 30113729 30113898 + 42 96 32 G T 30113863 414 135 GGGAGTCCTTCCCAGGAACCCGAAAAACCCACCTGAAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146085 30146086 30146086 exon -4 0.96875 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTTCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 88 122 0.9947395 1 0.9973697 0.9918134 0.834693 0.996597 0.9932231 NA NA -0.001857457 0.006776908 0.9132532 0.99491 NA 0.002459726 NA FALSE NA 0 -0.26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM40 NA NA NA ENSG00000204614 ENSE00001708226 synonymous_variant 0.119193 0.19539 0.02143 0.616025 0.6530886 0 1.530551e-07 FALSE 8.33743e-06 ENSE00001708226_029 ENSE00001708226 029 6 30113729 30113898 + 42 96 32 G T 30113878 419 150 GGGAGTCCTTCCCAGGAACCAGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146100 30146101 30146101 downstr_intron 12 1.387097 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCTGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 3406 356 0.9631144 0.986196 0.9746552 0.9918134 0.834693 0.996597 0.9932231 NA NA -0.03348259 -0.007027133 0.9132532 0.99491 NA -0.02025486 NA FALSE NA 0 -1.008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:30146101 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 intron_variant -0.363273 0.13629 0.00801 0.087844 0.3635626 0.0617172 1.530551e-07 FALSE 8.52842e-06 ENSE00001708226_030 ENSE00001708226 030 6 30113729 30113898 + 42 96 32 G C 30113878 420 150 GGGAGTCCTTCCCAGGAACCGGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146100 30146101 30146101 downstr_intron 12 1.387097 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCCGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 116 15 1 1 1 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.003403045 0.006776908 0.9132532 0.99491 NA 0.005089977 NA FALSE NA 0 -1.008 NA NA NA TRIM40 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM40 NA NA NA ENSG00000204614 ENSE00001708226 intron_variant -0.470993 0.13621 0.01044 0.087844 0.3366288 0.0617172 1.530551e-07 FALSE 1.70568e-05 ENSE00001708226_031 ENSE00001708226 031 6 30113729 30113898 + 42 96 32 T C 30113885 421 157 GGGAGTCCTTCCCGGGAACCCGAAAAACCCACCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCCTAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 30146107 30146108 30146108 downstr_intron 19 1.612903 CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCCGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC mutant NA NA NA NA NA 891 342 0.9998614 0.9862766 0.993069 0.9918134 0.834693 0.996597 0.9932231 NA NA 0.0032644 -0.006946538 0.9132532 0.99491 NA -0.001841069 NA FALSE NA 0 -0.928 rs143682442 intron_variant MODIFIER TRIM40 HGNC 18736 ENST00000396581 3/5 rs143682442 1 C:0.0024 C:0 C:0.0014 NA C:0 C:0.0109 C:0 C:0.0017 C:0.0059 CTG T,C 0.003417 6:30146108 TRIM40 HGNC Symbol protein_coding 12627 ENSG00000204614 ENSE00001708226 intron_variant -0.312313 0.13772 0.00665 0.087844 0.4660439 0.0456382 1.530551e-07 FALSE 0.00386819 ENSE00001708226_BRK ENSE00001708226 BRK 6 30113729 30113898 + 42 96 32 A,G; T,T NA NA NA GGGAGTCCTTCCCAGGAACCCGAAAAACCCGGCTGCAGAGCCTGCAGTTTCTTCTCCTGCTGAGCCTTGAGCCGCTGAAGTTCTGCAATGTCCTTTCTGAGCTTCCTGCTCCGGCGATTGAGTCGTTCAAAAAGAGACAGACACACCTGCTTGTCAGACTGGGAGTGAGG 30145951 30146121 NA NA NA NA NA NA CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTTTGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGCCGGGTTTTTCGGGTTCCTGGGAAGGACTCCC CCTCACTCCCAGTCTGACAAGCAGGTGTGTCTGTCTCTTTAGGAACGACTCAATCGCCGGAGCAGGAAGCTCAGAAAGGACATTGCAGAACTTCAGCGGCTCAAGGCTCAGCAGGAGAAGAAACTGCAGGCTCTGCAGGTGGGTTTTTCGGGTTCCTGGGAAGGACTCCC control 171 162 0 0 0 334 2492 0 0.008755151 0.004377576 0.9918134 0.834693 0.996597 0.9932231 -0.9918134 -0.834693 -0.996597 -0.9844679 0.9132532 0.99491 -0.9132532 -0.9905324 0.07727927 TRUE TRUE NA NA NA NA NA TRIM40 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM40 NA NA NA ENSG00000204614 ENSE00001708226 NA NA NA NA NA NA NA 1.530551e-07 FALSE NA ENSE00001708545_000 ENSE00001708545 000 1 24766606 24766775 + 56 69 45 NA NA NA NA NA TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 NA NA NA NA NA NA TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG natural NA NA NA NA NA 280 305 0.9972521 1 0.9986261 NA NA 0.9972521 1 NA NA 0 0 NA 0.9986261 NA 0 NA FALSE NA NA NA NA NA NA NIPAL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NIPAL3 NA NA NA ENSG00000001461 ENSE00003670970 NA NA NA NA NA NA NA 0.0004547119 FALSE NA ENSE00001708545_002 ENSE00001708545 002 1 24766606 24766775 + 56 69 45 A G 24766663 745 58 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGGAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440172 24440173 24440173 exon 2 0.02898551 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGGAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 776 726 0.9991484 0.9932399 0.9961941 NA NA 0.9972521 1 NA NA 0.001896229 -0.006760091 NA 0.9986261 NA -0.002431931 NA FALSE NA 1 7.62 . missense_variant&splice_region_variant MODERATE NIPAL3 HGNC 25233 ENST00000358028 3/8 1 tolerated(0.11) probably_damaging(0.912) NA GAA A,G 8.238e-06 1:24440173 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 missense_variant 6.528525 0.99104 0.98793 0.706548 0.9990642 0 0.0004547119 FALSE 8.92061e-06 ENSE00001708545_006 ENSE00001708545 006 1 24766606 24766775 + 56 69 45 C T 24766679 749 74 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCTCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440188 24440189 24440189 exon 18 0.2608696 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCTCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 279 24 0.9954891 1 0.9977445 NA NA 0.9972521 1 NA NA -0.001763045 0 NA 0.9986261 NA -0.0008815225 NA FALSE NA 0.194 -0.859 . synonymous_variant LOW NIPAL3 HGNC 25233 ENST00000358028 3/8 1 NA CCC C,T 0.00014 1:24440189 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 synonymous_variant 2.00435 0.76582 0.08884 0.706548 0.6392494 0 0.0004547119 FALSE 0.0001749 ENSE00001708545_007 ENSE00001708545 007 1 24766606 24766775 + 56 69 45 C T 24766687 750 82 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGTGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440196 24440197 24440197 exon 26 0.3768116 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGTGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 67 23 1 1 1 NA NA 0.9972521 1 NA NA 0.002747857 0 NA 0.9986261 NA 0.001373928 NA FALSE NA 1 6.386 rs143586098 missense_variant MODERATE NIPAL3 HGNC 25233 ENST00000358028 3/8 rs143586098 1 deleterious(0) probably_damaging(0.909) NA T:0.0002 T:0 GCG C,T 1.647e-05 1:24440197 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 missense_variant 6.856692 0.99251 0.98156 0.706548 0.9991069 0 0.0004547119 FALSE NA ENSE00001708545_010 ENSE00001708545 010 1 24766606 24766775 + 56 69 45 T C 24766692 753 87 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCCTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440201 24440202 24440202 exon 31 0.4492754 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCCTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 104 515 1 1 1 NA NA 0.9972521 1 NA NA 0.002747857 0 NA 0.9986261 NA 0.001373928 NA FALSE NA 1 6.565 . missense_variant MODERATE NIPAL3 HGNC 25233 ENST00000358028 3/8 1 tolerated(0.82) probably_damaging(0.974) NA CTT T,C 8.236e-06 1:24440202 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 missense_variant 3.447325 0.99031 0.9801 0.706548 0.9832349 0 0.0004547119 FALSE 8.57706e-06 ENSE00001708545_011 ENSE00001708545 011 1 24766606 24766775 + 56 69 45 C T 24766694 754 89 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTTGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440203 24440204 24440204 exon 33 0.4782609 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTTGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 46 246 1 0.9834336 0.9917168 NA NA 0.9972521 1 NA NA 0.002747857 -0.01656643 NA 0.9986261 NA -0.006909284 NA FALSE NA 0.728 -0.282 . synonymous_variant LOW NIPAL3 HGNC 25233 ENST00000358028 3/8 1 NA TCG C,T 3.295e-05 1:24440204 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 synonymous_variant 1.404004 0.81707 0.08263 0.706548 0.6903232 0 0.0004547119 FALSE 1.71855e-05 ENSE00001708545_014 ENSE00001708545 014 1 24766606 24766775 + 56 69 45 G T 24766704 757 99 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCTTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440213 24440214 24440214 exon -27 0.6231884 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCTTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 23 434 1 1 1 NA NA 0.9972521 1 NA NA 0.002747857 0 NA 0.9986261 NA 0.001373928 NA FALSE NA 1 4.852 . missense_variant MODERATE NIPAL3 HGNC 25233 ENST00000358028 3/8 1 tolerated(1) benign(0.028) NA CGT G,T 1.647e-05 1:24440214 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 missense_variant 1.711747 0.98291 0.94478 0.706548 0.9786152 0 0.0004547119 FALSE 8.53446e-06 ENSE00001708545_015 ENSE00001708545 015 1 24766606 24766775 + 56 69 45 G A 24766707 758 102 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGATCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440216 24440217 24440217 exon -24 0.6666667 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGATCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 31 179 1 0.9725308 0.9862654 NA NA 0.9972521 1 NA NA 0.002747857 -0.02746915 NA 0.9986261 NA -0.01236065 NA FALSE NA 1 4.715 . missense_variant MODERATE NIPAL3 HGNC 25233 ENST00000358028 3/8 1 tolerated(1) benign(0.02) NA GGT G,A 1.647e-05 1:24440217 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 missense_variant 1.430549 0.98093 0.89944 0.706548 0.2673431 0 0.0004547119 FALSE 8.52893e-06 ENSE00001708545_016 ENSE00001708545 016 1 24766606 24766775 + 56 69 45 T C 24766714 759 109 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCACTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440223 24440224 24440224 exon -17 0.7681159 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCACTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 201 68 0.9958318 1 0.9979159 NA NA 0.9972521 1 NA NA -0.001420378 0 NA 0.9986261 NA -0.0007101888 NA FALSE NA 1 6.565 . missense_variant MODERATE NIPAL3 HGNC 25233 ENST00000358028 3/8 1 deleterious(0) probably_damaging(0.987) NA ATT T,C 1.647e-05 1:24440224 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 missense_variant 6.163632 0.99187 0.9829 0.706548 0.9980365 0 0.0004547119 FALSE 1.727e-05 ENSE00001708545_018 ENSE00001708545 018 1 24766606 24766775 + 56 69 45 C T 24766727 761 122 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTTCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440236 24440237 24440237 exon -4 0.9565217 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTTCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 87 163 1 0.9985867 0.9992934 NA NA 0.9972521 1 NA NA 0.002747857 -0.001413285 NA 0.9986261 NA 0.000667286 NA FALSE NA 0.671 -0.261 . synonymous_variant LOW NIPAL3 HGNC 25233 ENST00000358028 3/8 1 NA TCC C,T 8.237e-06 1:24440237 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 synonymous_variant 2.169834 0.96599 0.49373 0.706548 0.7662341 0 0.0004547119 FALSE 4.41053e-06 ENSE00001708545_019 ENSE00001708545 019 1 24766606 24766775 + 56 69 45 T G 24766738 762 133 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTGCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG 24440115 24440285 24440247 24440248 24440248 downstr_intron 8 1.181818 TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTGCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG TGGGGCCCCCTGGCTTGTGCCCAAATCATGTCCACTCCTGTGAACTTTCCTTACAGGAAAACCTGATTGGCGCCCTCTTGGCGATCTTCGGGCACCTCGTGGTCAGCATTGCACTTAACCTCCAGGTAAGTTTCAGTTACCAGCACTGTCTGGGGACAGAGACACAGCAG mutant NA NA NA NA NA 33 48 1 1 1 NA NA 0.9972521 1 NA NA 0.002747857 0 NA 0.9986261 NA 0.001373928 NA FALSE NA 0.007 0.533 . splice_region_variant&intron_variant LOW NIPAL3 HGNC 25233 ENST00000358028 3/7 1 NA TTC T,G 8.238e-06 1:24440248 NIPAL3 HGNC Symbol protein_coding 57182 ENSG00000001461 ENSE00003670970 splice_region_variant 0.401354 0.21268 0.18294 0.099367 0.5454392 0.270322 0.0004547119 FALSE 4.50158e-06 ENSE00001708717_000 ENSE00001708717 000 6 56501323 56501492 - 32 96 42 NA NA NA NA NA TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 NA NA NA NA NA NA TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG natural 26 22 0.9896545 0.9903037 0.9899791 5159 6584 0.7920415 0.9368217 0.8644316 0.9896545 0.9903037 0.7920415 0.9368217 0 0 0 0 0.9899791 0.8644316 0 0 0 FALSE FALSE NA NA NA NA NA DST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DST NA NA NA ENSG00000151914 ENSE00001708717 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001708717_002 ENSE00001708717 002 6 56501323 56501492 - 32 96 42 C T 56501346 1409 147 CATCTATTGAAGTTATGATTCTATTCACATACCTCGAAATACGCTGTGTTCTCCTTTATGTGCTGCTCCACACACTGGCAGAGCTGTAAGATCCAGCTCCACTGCGTCTGCATTGCCGCTCTGTAGGCCTTAAAGATAAAACAGAGCCATCATAACTGACTGGGGAGAAA 56636524 56636694 56636547 56636548 56636548 downstr_intron 9 1.290323 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAATAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 905 1156 0.9972378 0.9986387 0.9979383 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2051964 0.06181704 0.9899791 0.8644316 NA 0.1335067 NA FALSE NA 0 -1.792 . intron_variant MODIFIER DST HGNC 1090 ENST00000439203 9/25 rs372202691 1 NA T:0.0002 T:0 ACT C,T 8.236e-06 6:56636548 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 intron_variant 0.203244 0.1301 0.03222 0.156188 0.420956 0.0852131 1 TRUE 4.08197e-06 ENSE00001708717_003 ENSE00001708717 003 6 56501323 56501492 - 32 96 42 A G 56501349 1410 144 CATCTATTGAAGTTATGATTCTACTCGCATACCTCGAAATACGCTGTGTTCTCCTTTATGTGCTGCTCCACACACTGGCAGAGCTGTAAGATCCAGCTCCACTGCGTCTGCATTGCCGCTCTGTAGGCCTTAAAGATAAAACAGAGCCATCATAACTGACTGGGGAGAAA 56636524 56636694 56636550 56636551 56636551 downstr_intron 6 1.193548 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGCGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 574 279 0.9953937 1 0.9976969 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2033522 0.06317833 0.9899791 0.8644316 NA 0.1332653 NA FALSE NA 0 0.881 . splice_region_variant&intron_variant LOW DST HGNC 1090 ENST00000439203 9/25 rs531313667 1 NA CAC A,G 6.589e-05 6:56636551 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 splice_region_variant -0.207667 0.2583 0.15626 0.156188 0.3843493 0.194923 1 TRUE 6.52587e-05 ENSE00001708717_004 ENSE00001708717 004 6 56501323 56501492 - 32 96 42 C T 56501357 1411 136 CATCTATTGAAGTTATGATTCTACTCACATACCTTGAAATACGCTGTGTTCTCCTTTATGTGCTGCTCCACACACTGGCAGAGCTGTAAGATCCAGCTCCACTGCGTCTGCATTGCCGCTCTGTAGGCCTTAAAGATAAAACAGAGCCATCATAACTGACTGGGGAGAAA 56636524 56636694 56636558 56636559 56636559 exon -3 0.9791667 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCAAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 1460 461 0.9973853 0.9899185 0.9936519 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2053438 0.05309683 0.9899791 0.8644316 NA 0.1292203 NA FALSE NA 0.999 4.683 rs142588059 missense_variant&splice_region_variant MODERATE DST HGNC 1090 ENST00000439203 9/26 rs142588059 1 deleterious(0) probably_damaging(0.938) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TCG C,T 7.413e-05 6:56636559 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 missense_variant 6.262602 0.95398 0.93513 0.706548 0.9992064 0 1 TRUE 4.48145e-05 ENSE00001708717_005 ENSE00001708717 005 6 56501323 56501492 - 32 96 42 C T 56501364 1412 129 CATCTATTGAAGTTATGATTCTACTCACATACCTCGAAATATGCTGTGTTCTCCTTTATGTGCTGCTCCACACACTGGCAGAGCTGTAAGATCCAGCTCCACTGCGTCTGCATTGCCGCTCTGTAGGCCTTAAAGATAAAACAGAGCCATCATAACTGACTGGGGAGAAA 56636524 56636694 56636565 56636566 56636566 exon -10 0.90625 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCATATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 424 2084 0.9999029 0.9986557 0.9992793 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2078614 0.061834 0.9899791 0.8644316 NA 0.1348477 NA FALSE NA 0 -7.055 rs143352267 synonymous_variant LOW DST HGNC 1090 ENST00000439203 9/26 rs143352267 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0011 T:0 ACG C,T 0.0001565 6:56636566 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 synonymous_variant 1.206158 0.09086 0.03124 0.719381 0.3750017 0 1 TRUE 0.000130273 ENSE00001708717_006 ENSE00001708717 006 6 56501323 56501492 - 32 96 42 G A 56501365 1413 128 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGTGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 56636566 56636567 56636567 exon -11 0.8958333 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGTGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 1596 1215 0.9983641 0.9919064 0.9951352 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2063226 0.05508471 0.9899791 0.8644316 NA 0.1307037 NA FALSE NA 0.322 2.853 . missense_variant MODERATE DST HGNC 1090 ENST00000439203 9/26 1 tolerated(0.11) benign(0.328) NA CGC G,A 8.236e-06 6:56636567 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 missense_variant 1.34289 0.33427 0.41846 0.719381 0.9679848 0 1 TRUE 8.14306e-06 ENSE00001708717_007 ENSE00001708717 007 6 56501323 56501492 - 32 96 42 T C 56501367 1414 126 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACGGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 56636568 56636569 56636569 exon -13 0.875 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACGGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 362 507 1 0.9999249 0.9999625 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2079585 0.06310323 0.9899791 0.8644316 NA 0.1355309 NA FALSE NA 0 -1.492 . synonymous_variant LOW DST HGNC 1090 ENST00000439203 9/26 1 NA CTG T,C 8.236e-06 6:56636569 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 synonymous_variant -1.341412 0.16451 0.11028 0.719381 0.1553359 0 1 TRUE 4.06898e-06 ENSE00001708717_008 ENSE00001708717 008 6 56501323 56501492 - 32 96 42 T C 56501369 1415 124 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACGCAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 56636570 56636571 56636571 exon -15 0.8541667 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACGCAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 774 677 0.9823107 0.9993792 0.990845 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.1902693 0.06255757 0.9899791 0.8644316 NA 0.1264134 NA FALSE NA 0.992 0.406 rs148341409 missense_variant MODERATE DST HGNC 1090 ENST00000439203 9/26 rs148341409 1 tolerated(0.52) benign(0.032) NA C:0 C:0.0001 GTG T,C 8.236e-06 6:56636571 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 missense_variant -0.40868 0.53547 0.5405 0.719381 0.6672697 0 1 TRUE 8.13709e-06 ENSE00001708717_009 ENSE00001708717 009 6 56501323 56501492 - 32 96 42 T C 56501398 1416 95 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCGGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 56636599 56636600 56636600 exon -44 0.5520833 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCGGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 1513 2064 0.9963209 0.9954008 0.9958609 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2042795 0.05857914 0.9899791 0.8644316 NA 0.1314293 NA FALSE NA 1 3.36 . missense_variant MODERATE DST HGNC 1090 ENST00000439203 9/26 rs575651723 1 tolerated(0.34) possibly_damaging(0.787) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CTG T,C 8.236e-06 6:56636600 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 missense_variant 2.563936 0.93045 0.84289 0.719381 0.9946979 0 1 TRUE 8.13193e-06 ENSE00001708717_010 ENSE00001708717 010 6 56501323 56501492 - 32 96 42 A G 56501410 1417 83 CATCTATTGAAGTTATGATTCTACTCACATACCTCGAAATACGCTGTGTTCTCCTTTATGTGCTGCTCCACACACTGGCAGAGCTGTGAGATCCAGCTCCACTGCGTCTGCATTGCCGCTCTGTAGGCCTTAAAGATAAAACAGAGCCATCATAACTGACTGGGGAGAAA 56636524 56636694 56636611 56636612 56636612 exon 41 0.4270833 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTCACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 283 858 1 0.9814279 0.990714 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2079585 0.04460625 0.9899791 0.8644316 NA 0.1262824 NA FALSE NA 0.954 9.134 . missense_variant MODERATE DST HGNC 1090 ENST00000439203 9/26 1 deleterious(0.01) probably_damaging(0.996) NA TAA A,G 8.236e-06 6:56636612 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 missense_variant 4.785134 0.92876 0.95901 0.719381 0.998701 0 1 TRUE 4.06517e-06 ENSE00001708717_011 ENSE00001708717 011 6 56501323 56501492 - 32 96 42 C A 56501415 1418 78 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGTATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 56636616 56636617 56636617 exon 36 0.375 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGTATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 2348 303 0.8189492 0.9915125 0.9052308 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.0269077 0.05469083 0.9899791 0.8644316 NA 0.04079927 NA FALSE NA 1 7.646 . missense_variant MODERATE DST HGNC 1090 ENST00000439203 9/26 1 deleterious(0) probably_damaging(1) NA TCC C,A 1.647e-05 6:56636617 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 missense_variant 7.416451 0.97312 0.96729 0.719381 0.9933878 0 1 TRUE 1.21965e-05 ENSE00001708717_012 ENSE00001708717 012 6 56501323 56501492 - 32 96 42 C A 56501416 1419 77 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTTGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 56636617 56636618 56636618 exon 35 0.3645833 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTTGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 479 1073 0.9957409 0.9813847 0.9885628 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2036994 0.04456305 0.9899791 0.8644316 NA 0.1241312 NA FALSE NA 1 7.646 . missense_variant MODERATE DST HGNC 1090 ENST00000439203 9/26 1 deleterious(0) probably_damaging(1) NA CCA C,A 8.236e-06 6:56636618 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 missense_variant 7.306818 0.97312 0.96729 0.719381 0.9887814 0 1 TRUE 8.13101e-06 ENSE00001708717_014 ENSE00001708717 014 6 56501323 56501492 - 32 96 42 C A 56501430 1421 63 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCATACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 56636631 56636632 56636632 exon 21 0.21875 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCATACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 1446 744 0.9968016 0.8595946 0.9281981 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2047602 -0.07722707 0.9899791 0.8644316 NA 0.06376655 NA FALSE NA 1 2.647 . missense_variant MODERATE DST HGNC 1090 ENST00000439203 9/26 1 deleterious(0.01) probably_damaging(0.971) NA TCT C,A 1.647e-05 6:56636632 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 missense_variant 5.972734 0.95092 0.91613 0.719381 0.9975426 0 1 TRUE 3.65946e-05 ENSE00001708717_015 ENSE00001708717 015 6 56501323 56501492 - 32 96 42 C T 56501439 1422 54 CATCTATTGAAGTTATGATTCTACTCACATACCTCGAAATACGCTGTGTTCTCCTTTATGTGCTGCTCCACACACTGGCAGAGCTGTAAGATCCAGCTCCACTGCGTCTGCATTGCTGCTCTGTAGGCCTTAAAGATAAAACAGAGCCATCATAACTGACTGGGGAGAAA 56636524 56636694 56636640 56636641 56636641 exon 12 0.125 TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCAGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 3522 583 0.9932761 0.9997286 0.9965024 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2012346 0.06290696 0.9899791 0.8644316 NA 0.1320708 NA FALSE NA 0.001 -1.401 . synonymous_variant LOW DST HGNC 1090 ENST00000439203 9/26 1 NA CCG T,T 1.647e-05 6:56636641 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 synonymous_variant 1.390957 0.12338 0.05848 0.719381 0.711592 0 1 TRUE 1.22012e-05 ENSE00001708717_016 ENSE00001708717 016 6 56501323 56501492 - 32 96 42 C T 56501464 1423 29 CATCTATTGAAGTTATGATTCTACTCACATACCTCGAAATACGCTGTGTTCTCCTTTATGTGCTGCTCCACACACTGGCAGAGCTGTAAGATCCAGCTCCACTGCGTCTGCATTGCCGCTCTGTAGGCCTTAAAGATAAAATAGAGCCATCATAACTGACTGGGGAGAAA 56636524 56636694 56636665 56636666 56636666 upstr_intron -14 -0.3095238 TTTCTCCCCAGTCAGTTATGATGGCTCTATTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 1095 33 0.9886892 1 0.9943446 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.1966477 0.06317833 0.9899791 0.8644316 NA 0.129913 NA FALSE NA 0.001 0.716 . intron_variant MODIFIER DST HGNC 1090 ENST00000439203 8/25 1 NA ACA C,T 1.647e-05 6:56636666 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 intron_variant 0.495194 0.26987 0.20859 0.099367 0.6576125 0.13449 1 TRUE NA ENSE00001708717_017 ENSE00001708717 017 6 56501323 56501492 - 32 96 42 G A 56501466 1424 27 TTTCTCCCCAGTCAGTTATGATGGCTTTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 56636667 56636668 56636668 upstr_intron -16 -0.3571429 TTTCTCCCCAGTCAGTTATGATGGCTTTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 436 1297 1 0.9298055 0.9649027 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2079585 -0.007016203 0.9899791 0.8644316 NA 0.1004712 NA FALSE NA 0 -0.58 . intron_variant MODIFIER DST HGNC 1090 ENST00000439203 8/25 1 NA AGA G,A 8.236e-06 6:56636668 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 intron_variant -0.063723 0.22157 0.06994 0.099367 0.7383052 0.13449 1 TRUE 4.07687e-06 ENSE00001708717_018 ENSE00001708717 018 6 56501323 56501492 - 32 96 42 C T 56501470 1425 23 CATCTATTGAAGTTATGATTCTACTCACATACCTCGAAATACGCTGTGTTCTCCTTTATGTGCTGCTCCACACACTGGCAGAGCTGTAAGATCCAGCTCCACTGCGTCTGCATTGCCGCTCTGTAGGCCTTAAAGATAAAACAGAGCTATCATAACTGACTGGGGAGAAA 56636524 56636694 56636671 56636672 56636672 upstr_intron -20 -0.452381 TTTCTCCCCAGTCAGTTATGATAGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG mutant NA NA NA NA NA 1265 171 0.9982997 0.9997771 0.9990384 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.2062582 0.06295546 0.9899791 0.8644316 NA 0.1346068 NA FALSE NA 0 -0.35 . intron_variant MODIFIER DST HGNC 1090 ENST00000439203 8/25 1 NA CCA C,T 2.471e-05 6:56636672 DST HGNC Symbol protein_coding 496641 ENSG00000151914 ENSE00001708717 intron_variant 0.375687 0.2503 0.07167 0.099367 0.6107662 0.134425 1 TRUE 1.22406e-05 ENSE00001708717_BRK ENSE00001708717 BRK 6 56501323 56501492 - 32 96 42 A,G; T,T NA NA NA TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTATTGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGCCATGTGAGTAGAATCATAACTTCAATAGATG 56636524 56636694 NA NA NA NA NA NA TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTATTGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGCCATGTGAGTAGAATCATAACTTCAATAGATG TTTCTCCCCAGTCAGTTATGATGGCTCTGTTTTATCTTTAAGGCCTACAGAGCGGCAATGCAGACGCAGTGGAGCTGGATCTTACAGCTCTGCCAGTGTGTGGAGCAGCACATAAAGGAGAACACAGCGTATTTCGAGGTATGTGAGTAGAATCATAACTTCAATAGATG control NA NA NA NA NA 48 46 0.9525087 1 0.9762544 0.9896545 0.9903037 0.7920415 0.9368217 NA NA 0.1604672 0.06317833 0.9899791 0.8644316 NA 0.1118228 NA FALSE NA NA NA NA NA NA DST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DST NA NA NA ENSG00000151914 ENSE00001708717 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001708823_000 ENSE00001708823 000 19 13345976 13346145 - 47 66 57 NA NA NA NA NA AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 NA NA NA NA NA NA AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG natural 46 126 0.9911022 0.9769674 0.9840348 2183 2839 0.9851762 0.9964153 0.9907957 0.9911022 0.9769674 0.9851762 0.9964153 0 0 0 0 0.9840348 0.9907957 0 0 0 FALSE FALSE NA NA NA NA NA CACNA1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA1A NA NA NA ENSG00000141837 ENSE00003556942 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001708823_001 ENSE00001708823 001 19 13345976 13346145 - 47 66 57 G C 13346007 1127 139 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCGTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235192 13235193 13235193 downstr_intron 16 1.347826 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCGTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 261 174 1 1 1 0.9911022 0.9769674 0.9851762 0.9964153 NA NA 0.01482378 0.003584746 0.9840348 0.9907957 NA 0.009204263 NA FALSE NA 0.001 -0.018 . intron_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 4/7 1 NA AGG G,C 8.271e-06 19:13235193 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 intron_variant -0.368214 0.17834 0.01075 0.093295 0.2876539 0.0477024 1 TRUE NA ENSE00001708823_003 ENSE00001708823 003 19 13345976 13346145 - 47 66 57 C T 13346061 1129 85 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCACCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235246 13235247 13235247 exon 28 0.4242424 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCACCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 922 2031 0.9999554 0.9972647 0.99861 0.9911022 0.9769674 0.9851762 0.9964153 NA NA 0.01477914 0.0008494745 0.9840348 0.9907957 NA 0.007814306 NA FALSE NA 1 7.733 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 4/8 rs371273055 1 NA T:0.0002 T:0 GCG C,T 8.275e-06 19:13235247 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 missense_variant 7.310181 0.99065 0.99017 0.706298 0.9177301 0 1 TRUE NA ENSE00001708823_004 ENSE00001708823 004 19 13345976 13346145 - 47 66 57 G A 13346062 1130 84 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATTGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235247 13235248 13235248 exon 27 0.4090909 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATTGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 50 49 1 1 1 0.9911022 0.9769674 0.9851762 0.9964153 NA NA 0.01482378 0.003584746 0.9840348 0.9907957 NA 0.009204263 NA FALSE NA 0 -1.755 NA NA NA CACNA1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:13235248 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 synonymous_variant 1.806082 0.9568 0.08031 0.706298 0.8388882 0 1 TRUE NA ENSE00001708823_006 ENSE00001708823 006 19 13345976 13346145 - 47 66 57 C T 13346065 1132 81 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTAATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235250 13235251 13235251 exon 24 0.3636364 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTAATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 511 76 0.9969874 1 0.9984937 0.9911022 0.9769674 0.9851762 0.9964153 NA NA 0.01181122 0.003584746 0.9840348 0.9907957 NA 0.007697983 NA FALSE NA 0.984 0.538 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 4/8 1 NA TCA C,T 8.277e-06 19:13235251 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 synonymous_variant 1.413359 0.97286 0.85085 0.706298 0.6902834 0 1 TRUE NA ENSE00001708823_007 ENSE00001708823 007 19 13345976 13346145 - 47 66 57 C T 13346068 1133 78 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTACTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235253 13235254 13235254 exon 21 0.3181818 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTACTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 1408 1491 0.8718384 0.9977659 0.9348021 0.9911022 0.9769674 0.9851762 0.9964153 NA NA -0.1133379 0.001350675 0.9840348 0.9907957 NA -0.05599359 NA FALSE NA 0.112 -0.297 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 4/8 1 NA GCA C,T 1.656e-05 19:13235254 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 synonymous_variant 1.726986 0.96791 0.37743 0.706298 0.7599374 0 1 TRUE NA ENSE00001708823_008 ENSE00001708823 008 19 13345976 13346145 - 47 66 57 A G 13346077 1134 69 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTACGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235262 13235263 13235263 exon 12 0.1818182 AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTACGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 1697 1436 0.919078 0.8536784 0.8863782 0.9911022 0.9769674 0.9851762 0.9964153 NA NA -0.06609824 -0.1427369 0.9840348 0.9907957 NA -0.1044176 NA FALSE NA 0.86 0.085 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 4/8 rs374673252 1 NA G:0 G:0.0001 CAT A,G 1.657e-05 19:13235263 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 synonymous_variant -0.60297 0.95862 0.56666 0.706298 0.4792834 0 1 TRUE NA ENSE00001708823_009 ENSE00001708823 009 19 13345976 13346145 - 47 66 57 A G 13346114 1135 32 AGACAGTGCGGCTGAGGGACCCCCAGCACTCCTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235299 13235300 13235300 upstr_intron -26 -0.4385965 AGACAGTGCGGCTGAGGGACCCCCAGCACTCCTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 421 395 1 1 1 0.9911022 0.9769674 0.9851762 0.9964153 NA NA 0.01482378 0.003584746 0.9840348 0.9907957 NA 0.009204263 NA FALSE NA 0 0.165 . intron_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 3/7 rs369522807 1 NA G:0 G:0.0001 AAG A,G 8.457e-06 19:13235300 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 intron_variant -0.157964 0.14152 0.00902 0.093295 0.3490216 0.0708573 1 TRUE 5.74033e-06 ENSE00001708823_010 ENSE00001708823 010 19 13345976 13346145 - 47 66 57 G A 13346117 1136 29 AGACAGTGCGGCTGAGGGACCCCCAGCATTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235302 13235303 13235303 upstr_intron -29 -0.4912281 AGACAGTGCGGCTGAGGGACCCCCAGCATTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 173 55 0.9882525 0.930961 0.9596068 0.9911022 0.9769674 0.9851762 0.9964153 NA NA 0.003076325 -0.06545423 0.9840348 0.9907957 NA -0.03118895 NA FALSE NA 0.005 -0.263 . intron_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 3/7 1 NA AGT G,A 3.403e-05 19:13235303 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 intron_variant 0.027944 0.24303 0.03085 0.093295 0.3537278 0.046323 1 TRUE 3.53203e-05 ENSE00001708823_011 ENSE00001708823 011 19 13345976 13346145 - 47 66 57 G T 13346124 1137 22 AGACAGTGCGGCTGAGGGACCACCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235309 13235310 13235310 upstr_intron -36 -0.6140351 AGACAGTGCGGCTGAGGGACCACCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 468 815 0.9970398 0.9956584 0.9963491 0.9911022 0.9769674 0.9851762 0.9964153 NA NA 0.0118636 -0.0007568663 0.9840348 0.9907957 NA 0.005553364 NA FALSE NA 0.004 1.24 . intron_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 3/7 1 NA GGG G,T 8.603e-06 19:13235310 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 intron_variant -0.00082 0.26237 0.15722 0.079558 0.6144607 0.0455939 1 TRUE NA ENSE00001708823_012 ENSE00001708823 012 19 13345976 13346145 - 47 66 57 C G 13346129 1138 17 AGACAGTGCGGCTGAGCGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 13235314 13235315 13235315 upstr_intron -41 -0.7017544 AGACAGTGCGGCTGAGCGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG mutant NA NA NA NA NA 263 919 1 0.9970631 0.9985315 0.9911022 0.9769674 0.9851762 0.9964153 NA NA 0.01482378 0.0006478325 0.9840348 0.9907957 NA 0.007735806 NA FALSE NA 0.012 1.162 . intron_variant&non_coding_transcript_variant MODIFIER CACNA1A HGNC 1388 ENST00000574822 3/7 1 NA CCC C,G 8.664e-06 19:13235315 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00003556942 intron_variant 0.111983 0.16575 0.0619 0.079558 0.6608633 0.0784261 1 TRUE 6.19586e-06 ENSE00001708823_BRK ENSE00001708823 BRK 19 13345976 13346145 - 47 66 57 A,G; T,T NA NA NA AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCTTGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGCCGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG 13235161 13235331 NA NA NA NA NA NA AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCTTGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGCCGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG AGACAGTGCGGCTGAGGGACCCCCAGCACTCTTCTTCATTGCCTTTTTTCCCACCAGGCCCTGCCTTATGTCTGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGAGTGTCGTGTCCCTAAGGTTCCCAGAGCCTCCCAAGGAGGGCAG control NA NA NA NA NA 130 161 0 0.03604183 0.01802091 0.9911022 0.9769674 0.9851762 0.9964153 NA NA -0.9851762 -0.9603734 0.9840348 0.9907957 NA -0.9727748 NA TRUE NA NA NA NA NA NA CACNA1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA1A NA NA NA ENSG00000141837 ENSE00003556942 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001709109_000 ENSE00001709109 000 9 137650026 137650195 + 63 54 53 NA NA NA NA NA CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT 134758179 134758349 NA NA NA NA NA NA CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT natural NA NA NA NA NA 1114 1963 0.9952432 0.872595 0.9339191 NA NA 0.9952432 0.872595 NA NA 0 0 NA 0.9339191 NA 0 NA FALSE NA NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001709109 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001709109_001 ENSE00001709109 001 9 137650026 137650195 + 63 54 53 T A 137650039 3559 14 CCAAGGCGGGGTGACCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT 134758179 134758349 134758192 134758193 134758193 upstr_intron -50 -0.7777778 CCAAGGCGGGGTGACCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT mutant NA NA NA NA NA 233 249 0.9996462 0.9954409 0.9975435 NA NA 0.9952432 0.872595 NA NA 0.004403033 0.1228459 NA 0.9339191 NA 0.06362445 NA FALSE NA 0 -0.199 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 17/65 1 NA GTC T 1.647e-05 9:134758193 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001709109 intron_variant 0.020965 0.12286 0.03243 0.062308 0.2979852 0.0476468 1 TRUE 8.14385e-06 ENSE00001709109_011 ENSE00001709109 011 9 137650026 137650195 + 63 54 53 C T 137650095 3569 70 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACTGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT 134758179 134758349 134758248 134758249 134758249 exon 7 0.1296296 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACTGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT mutant NA NA NA NA NA 68 255 0.95 0.9616317 0.9558159 NA NA 0.9952432 0.872595 NA NA -0.04524318 0.08903674 NA 0.9339191 NA 0.02189678 NA FALSE NA 1 2.771 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 18/66 rs577618553 1 probably_damaging(0.995) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C 8.237e-05 9:134758249 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001709109 missense_variant 7.82654 0.97846 0.96477 0.706298 0.9980174 0 1 TRUE 8.94236e-05 ENSE00001709109_015 ENSE00001709109 015 9 137650026 137650195 + 63 54 53 G C 137650117 3573 92 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGCGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT 134758179 134758349 134758270 134758271 134758271 exon -26 0.537037 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGCGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT mutant NA NA NA NA NA 31 588 1 0.9934892 0.9967446 NA NA 0.9952432 0.872595 NA NA 0.004756817 0.1208942 NA 0.9339191 NA 0.06282553 NA FALSE NA 1 8.516 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 18/66 1 probably_damaging(0.997) NA GGG G 8.238e-06 9:134758271 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001709109 missense_variant 5.073659 0.98792 0.99534 0.706298 0.9922069 0 1 TRUE 8.13187e-06 ENSE00001709109_017 ENSE00001709109 017 9 137650026 137650195 + 63 54 53 G A 137650121 3575 96 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTACCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT 134758179 134758349 134758274 134758275 134758275 exon -22 0.6111111 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTACCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT mutant NA NA NA NA NA 48 326 0.9991395 0.9995146 0.999327 NA NA 0.9952432 0.872595 NA NA 0.003896285 0.1269196 NA 0.9339191 NA 0.06540793 NA FALSE NA 1 0.8 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 18/66 rs544712595 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 TGC G 8.238e-06 9:134758275 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001709109 synonymous_variant 0.894945 0.96644 0.9143 0.706298 0.595929 0 1 TRUE 4.06626e-06 ENSE00001709109_020 ENSE00001709109 020 9 137650026 137650195 + 63 54 53 G A 137650128 3578 103 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCAAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT 134758179 134758349 134758281 134758282 134758282 exon -15 0.7407407 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCAAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT mutant NA NA NA NA NA 267 245 0.9984484 0.9871057 0.9927771 NA NA 0.9952432 0.872595 NA NA 0.003205214 0.1145107 NA 0.9339191 NA 0.05885796 NA FALSE NA 1 8.516 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 18/66 1 probably_damaging(0.986) NA CGA G 8.237e-06 9:134758282 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001709109 missense_variant 7.097339 0.98746 0.99451 0.706298 0.9974662 0 1 TRUE 4.06286e-06 ENSE00001709109_030 ENSE00001709109 030 9 137650026 137650195 + 63 54 53 G A 137650176 3588 151 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACAATGGGCAGCAGAGGTGTCT 134758179 134758349 134758329 134758330 134758330 downstr_intron 34 1.653846 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACAATGGGCAGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT mutant NA NA NA NA NA 174 96 0.9078 0.9816776 0.9447388 NA NA 0.9952432 0.872595 NA NA -0.08744323 0.1090826 NA 0.9339191 NA 0.01081967 NA FALSE NA 0 -0.391 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134758330 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001709109 intron_variant 0.139116 0.16783 0.01339 0.062308 0.4928488 0.0600364 1 TRUE 4.06822e-06 ENSE00001709109_031 ENSE00001709109 031 9 137650026 137650195 + 63 54 53 T C 137650178 3589 153 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGACGGGCAGCAGAGGTGTCT 134758179 134758349 134758331 134758332 134758332 downstr_intron 36 1.692308 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGACGGGCAGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT mutant NA NA NA NA NA 131 296 0.9971379 0.9994653 0.9983016 NA NA 0.9952432 0.872595 NA NA 0.001894703 0.1268703 NA 0.9339191 NA 0.06438252 NA FALSE NA 0.001 0.877 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 18/65 1 NA ATG T 8.237e-06 9:134758332 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001709109 intron_variant 0.245487 0.13055 0.09929 0.062308 0.8221819 0.0600364 1 TRUE 8.13643e-06 ENSE00001709109_032 ENSE00001709109 032 9 137650026 137650195 + 63 54 53 A C 137650183 3590 158 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCCGCAGAGGTGTCT 134758179 134758349 134758336 134758337 134758337 downstr_intron 41 1.788462 CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCCGCAGAGGTGTCT CCAAGGCGGGGTGTCCACGTGTGCAGGGTGGCGTCTGAGGCAGCCTTTCTGTCCTTTTTGCAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAGGGCCACAGGGTGAGTATTTCCTCTGTGAGACACAGGCATGACGATGGGCAGCAGAGGTGTCT mutant NA NA NA NA NA 648 751 0.9992993 0.9990313 0.9991653 NA NA 0.9952432 0.872595 NA NA 0.004056123 0.1264363 NA 0.9339191 NA 0.06524623 NA FALSE NA 0 -0.633 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 18/65 1 NA CAG A 8.237e-06 9:134758337 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001709109 intron_variant -0.104328 0.10505 0.02807 0.062308 0.7562464 0.0600364 1 TRUE 4.07103e-06 ENSE00001709586_000 ENSE00001709586 000 Y 2710155 2710324 + 51 78 41 NA NA NA NA NA CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT 2842113 2842283 NA NA NA NA NA NA CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT natural 65 80 0.9954555 0.9949822 0.9952188 3829 4969 0.9934221 0.9217038 0.9575629 0.9954555 0.9949822 0.9934221 0.9217038 0 0 0 0 0.9952188 0.9575629 0 0 0 FALSE FALSE NA NA NA NA NA RPS4Y1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS4Y1 NA NA NA ENSG00000129824 ENSE00001709586 NA NA NA NA NA NA NA 0.5023963 FALSE NA ENSE00001709586_001 ENSE00001709586 001 Y 2710155 2710324 + 51 78 41 C G 2710197 1 43 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTGCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT 2842113 2842283 2842155 2842156 2842156 upstr_intron -9 -0.1568627 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTGCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT mutant NA NA NA NA NA 72 2982 1 0.9958066 0.9979033 0.9954555 0.9949822 0.9934221 0.9217038 NA NA 0.006577912 0.07410281 0.9952188 0.9575629 NA 0.04034036 NA FALSE NA 0 0.206 . intron_variant MODIFIER RPS4Y1 HGNC 10425 ENST00000430575 1/6 1 NA TCC ,G 2.784e-05 Y:2842156 RPS4Y1 HGNC Symbol protein_coding 90514 ENSG00000129824 ENSE00001709586 intron_variant 0.653963 0.12065 0.04262 0 0.2337931 0 0.5023963 FALSE 1.48375e-05 ENSE00001709586_002 ENSE00001709586 002 Y 2710155 2710324 + 51 78 41 G A 2710210 2 56 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCAGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT 2842113 2842283 2842168 2842169 2842169 exon 5 0.06410256 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCAGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT mutant NA NA NA NA NA 2490 1085 0.99714 0.995659 0.9963995 0.9954555 0.9949822 0.9934221 0.9217038 NA NA 0.00371791 0.07395515 0.9952188 0.9575629 NA 0.03883653 NA FALSE NA 1 6.481 . missense_variant MODERATE RPS4Y1 HGNC 10425 ENST00000430575 2/7 1 deleterious(0.03) possibly_damaging(0.765) NA CGG ,A 0.0001105 Y:2842169 RPS4Y1 HGNC Symbol protein_coding 90514 ENSG00000129824 ENSE00001709586 missense_variant 3.115243 0.84697 0.55549 0 0.9980187 0 0.5023963 FALSE 7.41631e-05 ENSE00001709586_003 ENSE00001709586 003 Y 2710155 2710324 + 51 78 41 G A 2710259 3 105 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATACTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT 2842113 2842283 2842217 2842218 2842218 exon -25 0.6923077 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATACTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT mutant NA NA NA NA NA 1581 2873 0.99819 0.9904329 0.9943114 0.9954555 0.9949822 0.9934221 0.9217038 NA NA 0.004767873 0.06872909 0.9952188 0.9575629 NA 0.03674848 NA FALSE NA 1 6.481 . missense_variant MODERATE RPS4Y1 HGNC 10425 ENST00000430575 2/7 1 deleterious(0.04) benign(0.013) NA TGC ,A 2.754e-05 Y:2842218 RPS4Y1 HGNC Symbol protein_coding 90514 ENSG00000129824 ENSE00001709586 missense_variant 2.905747 0.89656 0.62922 0 0.9351287 0 0.5023963 FALSE 1.48405e-05 ENSE00001709586_004 ENSE00001709586 004 Y 2710155 2710324 + 51 78 41 G T 2710274 4 120 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACTGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT 2842113 2842283 2842232 2842233 2842233 exon -10 0.8846154 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACTGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT mutant NA NA NA NA NA 517 2140 0.9841038 0.9966958 0.9903998 0.9954555 0.9949822 0.9934221 0.9217038 NA NA -0.009318311 0.07499197 0.9952188 0.9575629 NA 0.03283683 NA FALSE NA 0.94 -0.739 . synonymous_variant LOW RPS4Y1 HGNC 10425 ENST00000430575 2/7 1 NA CGG ,T 5.593e-05 Y:2842233 RPS4Y1 HGNC Symbol protein_coding 90514 ENSG00000129824 ENSE00001709586 synonymous_variant 0.527831 0.71359 0.08962 0 0.3722741 0 0.5023963 FALSE 2.97548e-05 ENSE00001709586_005 ENSE00001709586 005 Y 2710155 2710324 + 51 78 41 T C 2710281 5 127 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTACTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT 2842113 2842283 2842239 2842240 2842240 exon -3 0.974359 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTACTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT mutant NA NA NA NA NA 1312 978 0.9963423 0.9634226 0.9798825 0.9954555 0.9949822 0.9934221 0.9217038 NA NA 0.002920255 0.04171878 0.9952188 0.9575629 NA 0.02231952 NA FALSE NA 1 5.303 . missense_variant&splice_region_variant MODERATE RPS4Y1 HGNC 10425 ENST00000430575 2/7 1 tolerated(0.07) possibly_damaging(0.646) NA ATT ,C 2.819e-05 Y:2842240 RPS4Y1 HGNC Symbol protein_coding 90514 ENSG00000129824 ENSE00001709586 missense_variant 1.904292 0.87977 0.52351 0 0.9831729 0 0.5023963 FALSE 1.49187e-05 ENSE00001709586_006 ENSE00001709586 006 Y 2710155 2710324 + 51 78 41 T G 2710309 6 155 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGGTTTTTTTTGTTTTTT 2842113 2842283 2842267 2842268 2842268 downstr_intron 26 1.65 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGGTTTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT mutant NA NA NA NA NA 362 200 1 0.9992084 0.9996042 0.9954555 0.9949822 0.9934221 0.9217038 NA NA 0.006577912 0.07750461 0.9952188 0.9575629 NA 0.04204126 NA FALSE NA 0.001 -0.747 rs34402762 intron_variant MODIFIER RPS4Y1 HGNC 10425 ENST00000430575 2/6 rs34402762&rs34402762 1 G:0.0031&G:0.0031 G:0.0029&G:0.0029 NA G:0.0020&G:0.0020 G:0.0000&G:0.0000 G:0.0019&G:0.0019 G:0&G:0 G:0.0011&G:0.0011 GTT ,G 0.001659 Y:2842268 RPS4Y1 HGNC Symbol protein_coding 90514 ENSG00000129824 ENSE00001709586 intron_variant 0.751547 0.0957 0.0058 0 0.08561527 0 0.5023963 FALSE 0.00166694 ENSE00001709586_007 ENSE00001709586 007 Y 2710155 2710324 + 51 78 41 T A 2710310 7 156 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTATTTTTTTGTTTTTT 2842113 2842283 2842268 2842269 2842269 downstr_intron 27 1.675 CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTATTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT mutant NA NA NA NA NA 632 1154 0.9992718 0.9964681 0.99787 0.9954555 0.9949822 0.9934221 0.9217038 NA NA 0.005849711 0.0747643 0.9952188 0.9575629 NA 0.040307 NA FALSE NA 0.002 -0.091 . intron_variant MODIFIER RPS4Y1 HGNC 10425 ENST00000430575 2/6 1 NA TTT ,A 2.899e-05 Y:2842269 RPS4Y1 HGNC Symbol protein_coding 90514 ENSG00000129824 ENSE00001709586 intron_variant 0.895202 0.10849 0.00319 0 0.09756653 0 0.5023963 FALSE 3.32441e-05 ENSE00001709586_BRK ENSE00001709586 BRK Y 2710155 2710324 + 51 78 41 A,G; T,T NA NA NA CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCTTGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTCCGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT 2842113 2842283 NA NA NA NA NA NA CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCTTGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTCCGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT CATTTCACTGTCAGCGGAAACTAATTTCTCTGAGTTTCGTGTCCTTTTCAGGCCCGGGGCCCCAAGAAGCACTTAAAGCGTGTTGCAGCGCCGAAGCATTGGATGCTTGACAAACTAACGGGTGTATTTGTGAGTATAACTTTGTTTTTTGTGGTTTTTTTTTGTTTTTT control 22 54 0.85 0.85 0.85 NA NA NA NA NA 0.9954555 0.9949822 0.9934221 0.9217038 -0.1454555 -0.1449822 NA NA 0.9952188 0.9575629 -0.1452188 NA NA NA FALSE NA NA NA NA NA RPS4Y1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS4Y1 NA NA NA ENSG00000129824 ENSE00001709586 NA NA NA NA NA NA NA 0.5023963 FALSE NA ENSE00001709834_000 ENSE00001709834 000 2 3660847 3661016 + 54 72 44 NA NA NA NA NA CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 NA NA NA NA NA NA TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG natural NA NA NA NA NA 352 683 0.9942914 0.9998885 0.9970899 NA NA 0.9942914 0.9998885 NA NA 0 0 NA 0.9970899 NA 0 NA FALSE NA NA NA NA NA NA COLEC11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COLEC11 NA NA NA ENSG00000118004 ENSE00003552166 NA NA NA NA NA NA NA 0.07203448 FALSE NA ENSE00001709834_005 ENSE00001709834 005 2 3660847 3661016 + 54 72 44 A G 3660883 65 37 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACACCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613292 3613293 3613293 upstr_intron -18 -0.3148148 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGGTGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 328 41 1 0.8 0.9 NA NA 0.9942914 0.9998885 NA NA 0.005708634 -0.1998885 NA 0.9970899 NA -0.09708992 NA FALSE NA 0 -3.493 . intron_variant MODIFIER COLEC11 HGNC 17213 ENST00000382062 2/5 1 NA GAT A,G 8.247e-06 2:3613293 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 intron_variant 0.660256 0.11871 0.00913 0.078448 0.5941818 0.0840973 0.07203448 FALSE 8.70989e-06 ENSE00001709834_009 ENSE00001709834 009 2 3660847 3661016 + 54 72 44 G C 3660903 69 57 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATGCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613312 3613313 3613313 exon 3 0.04166667 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGCATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 101 303 1 0.9964038 0.9982019 NA NA 0.9942914 0.9998885 NA NA 0.005708634 -0.003484648 NA 0.9970899 NA 0.001111993 NA FALSE NA 1 6.789 . missense_variant&splice_region_variant MODERATE COLEC11 HGNC 17213 ENST00000382062 3/6 1 deleterious(0.01) possibly_damaging(0.885) NA GGA G,C 1.649e-05 2:3613313 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 missense_variant 5.72415 0.9851 0.98582 0.554377 0.9937177 0 0.07203448 FALSE 1.27711e-05 ENSE00001709834_011 ENSE00001709834 011 2 3660847 3661016 + 54 72 44 G C 3660918 71 72 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCGGGGGCGCCTTTGTCTCGCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613327 3613328 3613328 exon 18 0.25 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGCGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 30 75 1 1 1 NA NA 0.9942914 0.9998885 NA NA 0.005708634 0.0001115177 NA 0.9970899 NA 0.002910076 NA FALSE NA 1 6.778 . missense_variant MODERATE COLEC11 HGNC 17213 ENST00000382062 3/6 1 deleterious(0) probably_damaging(1) NA GGG G,C 8.246e-06 2:3613328 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 missense_variant 6.467627 0.9851 0.96232 0.554377 0.9991435 0 0.07203448 FALSE NA ENSE00001709834_013 ENSE00001709834 013 2 3660847 3661016 + 54 72 44 C A 3660931 73 85 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCGGGGTCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613340 3613341 3613341 exon 31 0.4305556 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGACCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 494 199 0.9932743 1 0.9966372 NA NA 0.9942914 0.9998885 NA NA -0.001017034 0.0001115177 NA 0.9970899 NA -0.0004527582 NA FALSE NA 1 3.818 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:3613341 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 missense_variant 4.509277 0.98469 0.92316 0.57788 0.9949982 0 0.07203448 FALSE 0.000140546 ENSE00001709834_014 ENSE00001709834 014 2 3660847 3661016 + 54 72 44 C T 3660931 74 85 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCGGGGACGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613340 3613341 3613341 exon 31 0.4305556 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGTCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 228 92 1 0.998277 0.9991385 NA NA 0.9942914 0.9998885 NA NA 0.005708634 -0.00161144 NA 0.9970899 NA 0.002048597 NA FALSE NA 1 3.818 NA NA NA COLEC11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COLEC11 NA NA NA ENSG00000118004 ENSE00003552166 missense_variant 3.520891 0.98408 0.8965 0.57788 0.9991783 0 0.07203448 FALSE 4.25898e-06 ENSE00001709834_015 ENSE00001709834 015 2 3660847 3661016 + 54 72 44 C T 3660935 75 89 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCAGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613344 3613345 3613345 exon 35 0.4861111 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCTGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 131 14 1 1 1 NA NA 0.9942914 0.9998885 NA NA 0.005708634 0.0001115177 NA 0.9970899 NA 0.002910076 NA FALSE NA 0.428 -0.341 rs62107197 synonymous_variant LOW COLEC11 HGNC 17213 ENST00000382062 3/6 rs62107197&COSM178760&COSM178761 1 NA T:0.0002 T:0.0007 CCG A,T 0.000297 2:3613345 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 missense_variant 2.372535 0.94679 0.18456 0.57788 0.9519698 0 0.07203448 FALSE 0.000350619 ENSE00001709834_017 ENSE00001709834 017 2 3660847 3661016 + 54 72 44 C T 3660939 77 93 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCATCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613348 3613349 3613349 exon -34 0.5416667 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGATGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 175 153 0.988386 0.999501 0.9939435 NA NA 0.9942914 0.9998885 NA NA -0.005905361 -0.0003875131 NA 0.9970899 NA -0.003146437 NA FALSE NA 0.997 0.56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:3613349 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 missense_variant 7.686907 0.96725 0.74546 0.57788 0.9991824 0 0.07203448 FALSE 0.000472947 ENSE00001709834_018 ENSE00001709834 018 2 3660847 3661016 + 54 72 44 C A 3660939 78 93 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCTTCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613348 3613349 3613349 exon -34 0.5416667 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGAAGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 506 203 0.9975683 1 0.9987841 NA NA 0.9942914 0.9998885 NA NA 0.003276918 0.0001115177 NA 0.9970899 NA 0.001694218 NA FALSE NA 0.997 0.56 NA NA NA COLEC11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COLEC11 NA NA NA ENSG00000118004 ENSE00003552166 missense_variant 2.951426 0.9667 0.68206 0.57788 0.9579833 0 0.07203448 FALSE 1.71981e-05 ENSE00001709834_019 ENSE00001709834 019 2 3660847 3661016 + 54 72 44 T C 3660952 79 106 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGGCTCTTCCAGGCCGTCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613361 3613362 3613362 exon -21 0.7222222 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGCCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 87 13 1 1 1 NA NA 0.9942914 0.9998885 NA NA 0.005708634 0.0001115177 NA 0.9970899 NA 0.002910076 NA FALSE NA 1 3.938 . missense_variant MODERATE COLEC11 HGNC 17213 ENST00000382062 3/6 1 deleterious(0.03) possibly_damaging(0.607) NA GTC T,C 2.478e-05 2:3613362 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 missense_variant 1.46001 0.981 0.8644 0.57788 0.9888952 0 0.07203448 FALSE 2.68161e-05 ENSE00001709834_020 ENSE00001709834 020 2 3660847 3661016 + 54 72 44 C G 3660956 80 110 CTCCATCCTCAGAGCTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGCCCGACTCTTCCAGGCCGTCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613365 3613366 3613366 exon -17 0.7777778 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGGCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 154 41 0.6628507 0.8579483 0.7603995 NA NA 0.9942914 0.9998885 NA NA -0.3314407 -0.1419401 NA 0.9970899 NA -0.2366904 NA FALSE NA 0.935 -0.312 . synonymous_variant LOW COLEC11 HGNC 17213 ENST00000382062 3/6 1 NA GCC C,G 8.264e-06 2:3613366 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 missense_variant 1.369579 0.95828 0.47422 0.57788 0.9431778 0 0.07203448 FALSE 9.13517e-06 ENSE00001709834_022 ENSE00001709834 022 2 3660847 3661016 + 54 72 44 C T 3660991 82 145 CTCCATCCTCAGAGCTCTGAGGGCCAGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613400 3613401 3613401 downstr_intron 19 1.44186 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCTGGCCCTCAGAGCTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 35 945 1 0.9489731 0.9744866 NA NA 0.9942914 0.9998885 NA NA 0.005708634 -0.05091535 NA 0.9970899 NA -0.02260336 NA FALSE NA 0.001 1.434 rs113078399 intron_variant MODIFIER COLEC11 HGNC 17213 ENST00000382062 3/5 rs113078399 1 T:0.0220 T:0.0787 T:0.0072 NA T:0 T:0.001 T:0 T:0.07 T:0.0006 CCG C,T 0.006208 2:3613401 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 intron_variant -0.011008 0.10573 0.02976 0.065574 0.7648106 0.0448725 0.07203448 FALSE 0.0056614 ENSE00001709834_025 ENSE00001709834 025 2 3660847 3661016 + 54 72 44 G A 3661002 85 156 CTCCATCCTCAGAGTTCTGAGGGCCGGCCCAGGGCTGCAGGTACCTTTTTCTCCCGTGGGGCCGACTCTTCCAGGCCGTCCGGGGGCGCCTTTGTCTCCCTTCTCTCCCGCATCCCCTGTGGAAGAAGTCACATCCATTTAGCAGCTCGTCTGGCCAGCACAGCGTCTCA 3613256 3613426 3613411 3613412 3613412 downstr_intron 30 1.697674 TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAACTCTGAGGATGGAG TGAGACGCTGTGCTGGCCAGACGAGCTGCTAAATGGATGTGACTTCTTCCACAGGGGATGCGGGAGAGAAGGGAGACAAAGGCGCCCCCGGACGGCCTGGAAGAGTCGGCCCCACGGGAGAAAAAGGTACCTGCAGCCCTGGGCCGGCCCTCAGAGCTCTGAGGATGGAG mutant NA NA NA NA NA 228 10 0.9992758 1 0.9996379 NA NA 0.9942914 0.9998885 NA NA 0.004984399 0.0001115177 NA 0.9970899 NA 0.002547958 NA FALSE NA 0 -0.04 rs67826307 intron_variant MODIFIER COLEC11 HGNC 17213 ENST00000382062 3/5 rs67826307 1 A:0.0625 A:0.1528 A:0.0231 NA A:0.0109 A:0.0229 A:0.0624 A:0.14 A:0.0275 AGC G,A 0.027 2:3613412 COLEC11 HGNC Symbol protein_coding 49812 ENSG00000118004 ENSE00003552166 intron_variant -0.219326 0.13682 0.00728 0.065574 0.5678131 0.0448725 0.07203448 FALSE 0.0343424 ENSE00001710069_000 ENSE00001710069 000 2 152402829 152402998 - 30 99 41 NA NA NA NA NA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 NA NA NA NA NA NA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA natural 21 31 0.9991516 0.9867011 0.9929264 2901 4320 0.9681326 0.9514688 0.9598007 0.9991516 0.9867011 0.9681326 0.9514688 0 0 0 0 0.9929264 0.9598007 0 0 0 FALSE FALSE NA NA NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00001710069 NA NA NA NA NA NA NA 4.081031e-17 FALSE NA ENSE00001710069_001 ENSE00001710069 001 2 152402829 152402998 - 30 99 41 G A 152402843 2890 156 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATTACAATGCATAATTA 151546314 151546484 151546328 151546329 151546329 downstr_intron 16 1.551724 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATTACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 308 1001 0.9893827 1 0.9946914 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.02125017 0.04853121 0.9929264 0.9598007 NA 0.03489069 NA FALSE NA 0.009 0.786 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 132/179 1 NA TGA G,A 8.268e-06 2:151546329 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 intron_variant 0.241704 0.20812 0.03863 0.074636 0.2583675 0.0679955 4.081031e-17 FALSE 4.16465e-06 ENSE00001710069_002 ENSE00001710069 002 2 152402829 152402998 - 30 99 41 A G 152402847 2891 152 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACACCATCACAATGCATAATTA 151546314 151546484 151546332 151546333 151546333 downstr_intron 12 1.413793 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACACCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 2072 386 0.9990999 0.9926782 0.9958891 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03096735 0.04120946 0.9929264 0.9598007 NA 0.0360884 NA FALSE NA 0 -1.304 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 132/179 rs544775500 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GAT A,G 8.268e-06 2:151546333 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 intron_variant 0.217465 0.17759 0.00327 0.074636 0.3683607 0.0679955 4.081031e-17 FALSE 4.13165e-06 ENSE00001710069_003 ENSE00001710069 003 2 152402829 152402998 - 30 99 41 T C 152402848 2892 151 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACGTCATCACAATGCATAATTA 151546314 151546484 151546333 151546334 151546334 downstr_intron 11 1.37931 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACGTCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 671 1281 0.9671446 0.9968744 0.9820095 0.9991516 0.9867011 0.9681326 0.9514688 NA NA -0.0009879623 0.04540559 0.9929264 0.9598007 NA 0.02220881 NA FALSE NA 0 -0.903 rs181826071 intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 132/179 rs181826071 1 C:0.0006 C:0 C:0.0014 NA C:0 C:0.002 C:0 C:0.001 C:0.003 ATG T,C 0.001827 2:151546334 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 intron_variant 0.137768 0.16773 0.02716 0.074636 0.4074464 0.0679955 4.081031e-17 FALSE 0.00180869 ENSE00001710069_005 ENSE00001710069 005 2 152402829 152402998 - 30 99 41 T C 152402850 2894 149 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCGCATCATCACAATGCATAATTA 151546314 151546484 151546335 151546336 151546336 downstr_intron 9 1.310345 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCGCATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 588 1645 1 0.9976524 0.9988262 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 0.04618365 0.9929264 0.9598007 NA 0.03902554 NA FALSE NA 0 -0.552 NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:151546336 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 intron_variant 0.338366 0.23272 0.04266 0.074636 0.4668927 0.0773561 4.081031e-17 FALSE 1.23828e-05 ENSE00001710069_007 ENSE00001710069 007 2 152402829 152402998 - 30 99 41 C T 152402852 2896 147 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTACACATCATCACAATGCATAATTA 151546314 151546484 151546337 151546338 151546338 downstr_intron 7 1.241379 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTACACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 505 1351 0.9959597 0.9987508 0.9973553 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.02782712 0.04728205 0.9929264 0.9598007 NA 0.03755458 NA FALSE NA 0.002 -0.341 . splice_region_variant&intron_variant LOW NEB HGNC 7720 ENST00000603639 132/179 rs201684605 1 NA T:0 T:0.0006 GCA C,T 0.0006945 2:151546338 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 splice_region_variant 0.666722 0.26153 0.0251 0.074636 0.5978067 0.122022 4.081031e-17 FALSE 0.000589399 ENSE00001710069_008 ENSE00001710069 008 2 152402829 152402998 - 30 99 41 C T 152402856 2897 143 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTAAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546341 151546342 151546342 downstr_intron 3 1.103448 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTAAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 1095 730 0.9988785 0.9912828 0.9950807 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03074598 0.03981405 0.9929264 0.9598007 NA 0.03528002 NA FALSE NA 0.994 0.702 . splice_region_variant&intron_variant LOW NEB HGNC 7720 ENST00000603639 132/179 1 NA TCA C,T 8.268e-06 2:151546342 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 splice_region_variant 2.190345 0.97817 0.45384 0.074636 0.8758519 0.51859 4.081031e-17 FALSE 4.11022e-06 ENSE00001710069_009 ENSE00001710069 009 2 152402829 152402998 - 30 99 41 C G 152402871 2898 128 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTCCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546356 151546357 151546357 exon -13 0.8787879 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTCCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 359 227 1 1 1 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 0.04853121 0.9929264 0.9598007 NA 0.04019932 NA FALSE NA 1 0.732 . synonymous_variant LOW NEB HGNC 7720 ENST00000603639 132/180 rs374662309 1 NA G:0.0005 G:0 GCA C,G 2.48e-05 2:151546357 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 synonymous_variant 1.635698 0.97401 0.89953 0.553676 0.7546623 0 4.081031e-17 FALSE 1.22912e-05 ENSE00001710069_010 ENSE00001710069 010 2 152402829 152402998 - 30 99 41 G A 152402873 2899 126 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACTTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546358 151546359 151546359 exon -15 0.8585859 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACTTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 162 44 1 0.9148928 0.9574464 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 -0.03657603 0.9929264 0.9598007 NA -0.002354298 NA FALSE NA 1 2.073 . synonymous_variant LOW NEB HGNC 7720 ENST00000603639 132/180 1 NA AGG G,A 8.267e-06 2:151546359 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 synonymous_variant 1.363979 0.98581 0.94463 0.553676 0.7469571 0 4.081031e-17 FALSE 4.09393e-06 ENSE00001710069_011 ENSE00001710069 011 2 152402829 152402998 - 30 99 41 C G 152402878 2900 121 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCCGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546363 151546364 151546364 exon -20 0.8080808 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCCGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 783 1444 0.9375273 1 0.9687636 0.9991516 0.9867011 0.9681326 0.9514688 NA NA -0.03060527 0.04853121 0.9929264 0.9598007 NA 0.008962971 NA FALSE NA 1 7.424 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:151546364 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 8.356392 0.99694 0.99631 0.553676 0.9975844 0 4.081031e-17 FALSE NA ENSE00001710069_012 ENSE00001710069 012 2 152402829 152402998 - 30 99 41 C T 152402878 2901 121 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCAGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546363 151546364 151546364 exon -20 0.8080808 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCAGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 517 210 0.9994067 0.9998186 0.9996126 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.0312741 0.04834978 0.9929264 0.9598007 NA 0.03981194 NA FALSE NA 1 7.424 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00001710069 missense_variant 7.676001 0.99682 0.99573 0.553676 0.9994325 0 4.081031e-17 FALSE NA ENSE00001710069_013 ENSE00001710069 013 2 152402829 152402998 - 30 99 41 G C 152402879 2902 120 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCGGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546364 151546365 151546365 exon -21 0.7979798 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCGGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 422 1414 1 0.9895597 0.9947798 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 0.03809089 0.9929264 0.9598007 NA 0.03497916 NA FALSE NA 1 5.36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:151546365 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 6.937009 0.98989 0.98983 0.553676 0.998627 0 4.081031e-17 FALSE 0.000498753 ENSE00001710069_014 ENSE00001710069 014 2 152402829 152402998 - 30 99 41 G A 152402879 2903 120 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCTGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546364 151546365 151546365 exon -21 0.7979798 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCTGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 629 1532 1 0.9999006 0.9999503 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 0.04843178 0.9929264 0.9598007 NA 0.04014961 NA FALSE NA 1 5.36 NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00001710069 missense_variant 7.83056 0.98942 0.98776 0.553676 0.9991212 0 4.081031e-17 FALSE 8.99391e-05 ENSE00001710069_015 ENSE00001710069 015 2 152402829 152402998 - 30 99 41 G C 152402881 2904 118 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTGCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546366 151546367 151546367 exon -23 0.7777778 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTGCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 960 349 0.8130467 1 0.9065234 0.9991516 0.9867011 0.9681326 0.9514688 NA NA -0.1550859 0.04853121 0.9929264 0.9598007 NA -0.05327732 NA FALSE NA 1 7.313 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 132/180 1 probably_damaging(0.966) NA GGA G,C 2.48e-05 2:151546367 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 6.199767 0.99319 0.98991 0.553676 0.9925121 0 4.081031e-17 FALSE 1.22505e-05 ENSE00001710069_016 ENSE00001710069 016 2 152402829 152402998 - 30 99 41 C T 152402884 2905 115 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCACTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546369 151546370 151546370 exon -26 0.7474747 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCACTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 248 339 1 1 1 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 0.04853121 0.9929264 0.9598007 NA 0.04019932 NA FALSE NA 1 3.61 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 132/180 1 probably_damaging(1) NA GCG C,T 8.267e-06 2:151546370 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 6.902534 0.98994 0.95756 0.553676 0.998849 0 4.081031e-17 FALSE NA ENSE00001710069_017 ENSE00001710069 017 2 152402829 152402998 - 30 99 41 G A 152402885 2906 114 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCTGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546370 151546371 151546371 exon -27 0.7373737 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCTGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 1276 562 0.9986049 0.9971675 0.9978862 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03047229 0.04569869 0.9929264 0.9598007 NA 0.03808549 NA FALSE NA 1 7.454 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 132/180 1 probably_damaging(1) NA CGG G,A 7.441e-05 2:151546371 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 8.477808 0.99673 0.99412 0.553676 0.9989607 0 4.081031e-17 FALSE 6.53376e-05 ENSE00001710069_019 ENSE00001710069 019 2 152402829 152402998 - 30 99 41 G A 152402899 2908 100 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACATTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546384 151546385 151546385 exon -41 0.5959596 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACATTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 366 600 0.9972946 0.9992263 0.9982604 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.02916206 0.04775747 0.9929264 0.9598007 NA 0.03845976 NA FALSE NA 1 9.395 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 132/180 1 probably_damaging(0.993) NA AGT G,A 8.269e-06 2:151546385 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 6.902855 0.99673 0.99662 0.553676 0.9990443 0 4.081031e-17 FALSE 4.07647e-06 ENSE00001710069_020 ENSE00001710069 020 2 152402829 152402998 - 30 99 41 T C 152402900 2909 99 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACGCTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546385 151546386 151546386 exon -42 0.5858586 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACGCTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 149 109 1 0.9820078 0.9910039 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 0.03053902 0.9929264 0.9598007 NA 0.03120323 NA FALSE NA 1 5.694 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 132/180 rs534443920 1 probably_damaging(0.91) NA GTG T,C 3.307e-05 2:151546386 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 4.687585 0.99184 0.98869 0.553676 0.9977721 0 4.081031e-17 FALSE 3.66886e-05 ENSE00001710069_021 ENSE00001710069 021 2 152402829 152402998 - 30 99 41 A T 152402908 2910 91 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCAGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546393 151546394 151546394 exon -50 0.5050505 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCAGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 1180 1241 0.8077863 0.9937035 0.9007449 0.9991516 0.9867011 0.9681326 0.9514688 NA NA -0.1603463 0.04223469 0.9929264 0.9598007 NA -0.05905581 NA FALSE NA 1 8.886 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:151546394 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 6.590096 0.99577 0.99697 0.553676 0.9932717 0 4.081031e-17 FALSE 8.1487e-06 ENSE00001710069_022 ENSE00001710069 022 2 152402829 152402998 - 30 99 41 A G 152402908 2911 91 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCCGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546393 151546394 151546394 exon -50 0.5050505 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCCGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 428 660 1 0.9948818 0.9974409 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 0.04341301 0.9929264 0.9598007 NA 0.03764022 NA FALSE NA 1 8.886 NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00001710069 missense_variant 5.757019 0.99569 0.99679 0.553676 0.9975877 0 4.081031e-17 FALSE 8.1487e-06 ENSE00001710069_024 ENSE00001710069 024 2 152402829 152402998 - 30 99 41 A G 152402915 2913 84 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCCGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546400 151546401 151546401 exon 43 0.4343434 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCCGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 1094 1465 0.999018 0.999974 0.999496 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03088547 0.04850523 0.9929264 0.9598007 NA 0.03969535 NA FALSE NA 1 8.886 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 132/180 1 probably_damaging(1) NA CAG A,G 8.27e-06 2:151546401 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 6.603124 0.99569 0.99679 0.553676 0.9975412 0 4.081031e-17 FALSE 4.07418e-06 ENSE00001710069_025 ENSE00001710069 025 2 152402829 152402998 - 30 99 41 C A 152402928 2914 71 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTTAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546413 151546414 151546414 exon 30 0.3030303 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTTAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 637 639 0.9997413 0.9773086 0.9885249 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03160873 0.02583979 0.9929264 0.9598007 NA 0.02872426 NA FALSE NA 0.996 0.609 . synonymous_variant LOW NEB HGNC 7720 ENST00000603639 132/180 1 NA TCA C,A 8.271e-06 2:151546414 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 synonymous_variant 1.957025 0.9895 0.97713 0.553676 0.8761516 0 4.081031e-17 FALSE 4.07398e-06 ENSE00001710069_026 ENSE00001710069 026 2 152402829 152402998 - 30 99 41 T C 152402954 2915 45 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTGAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546439 151546440 151546440 exon 4 0.04040404 ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTGAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 845 1051 1 0.8216465 0.9108232 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 -0.1298223 0.9929264 0.9598007 NA -0.04897745 NA FALSE NA 1 5.801 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 132/180 1 probably_damaging(0.967) NA TTA T,C 8.274e-06 2:151546440 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 missense_variant 4.964655 0.99215 0.99338 0.553676 0.9987398 0 4.081031e-17 FALSE 8.14817e-06 ENSE00001710069_028 ENSE00001710069 028 2 152402829 152402998 - 30 99 41 G A 152402974 2917 25 ATTTGCTTATGACCAGCTATATTTTTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546459 151546460 151546460 upstr_intron -17 -0.3902439 ATTTGCTTATGACCAGCTATATTTTTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 1336 324 0.9477553 0.9993936 0.9735744 0.9991516 0.9867011 0.9681326 0.9514688 NA NA -0.02037729 0.04792479 0.9929264 0.9598007 NA 0.01377375 NA FALSE NA 0.981 1.456 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 131/179 1 NA AGA G,A 8.275e-06 2:151546460 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 intron_variant 0.494038 0.93965 0.66711 0.074388 0.4394784 0.223107 4.081031e-17 FALSE 1.63307e-05 ENSE00001710069_029 ENSE00001710069 029 2 152402829 152402998 - 30 99 41 A C 152402975 2918 24 ATTTGCTTATGACCAGCTATATTGCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546460 151546461 151546461 upstr_intron -18 -0.4146341 ATTTGCTTATGACCAGCTATATTGCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 756 1209 0.9958296 0.9930028 0.9944162 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.027697 0.041534 0.9929264 0.9598007 NA 0.0346155 NA FALSE NA 0.979 2.106 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 131/179 1 NA GAA A,C 8.275e-06 2:151546461 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 intron_variant 0.21416 0.96878 0.97037 0.074388 0.6910919 0.71258 4.081031e-17 FALSE 4.08017e-06 ENSE00001710069_030 ENSE00001710069 030 2 152402829 152402998 - 30 99 41 T C 152402980 2919 19 ATTTGCTTATGACCAGCTGTATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546465 151546466 151546466 upstr_intron -23 -0.5365854 ATTTGCTTATGACCAGCTGTATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 172 818 1 0.999017 0.9995085 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.03186744 0.04754818 0.9929264 0.9598007 NA 0.03970781 NA FALSE NA 0 -2.681 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 131/179 rs376205959 1 NA C:0 C:0.0001 ATA T,C 2.482e-05 2:151546466 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 intron_variant -0.312987 0.11136 0.02084 0.074388 0.5047454 0.0945736 4.081031e-17 FALSE 2.04278e-05 ENSE00001710069_031 ENSE00001710069 031 2 152402829 152402998 - 30 99 41 C G 152402983 2920 16 ATTTGCTTATGACCACCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546468 151546469 151546469 upstr_intron -26 -0.6097561 ATTTGCTTATGACCACCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 341 687 0.9923977 0.9997697 0.9960837 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.02426509 0.04830093 0.9929264 0.9598007 NA 0.03628301 NA FALSE NA 0 -2.027 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:151546469 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00001710069 intron_variant 0.650042 0.26405 0.04153 0.074388 0.6701977 0.0945736 4.081031e-17 FALSE 4.08975e-06 ENSE00001710069_032 ENSE00001710069 032 2 152402829 152402998 - 30 99 41 C T 152402983 2921 16 ATTTGCTTATGACCAACTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 151546468 151546469 151546469 upstr_intron -26 -0.6097561 ATTTGCTTATGACCAACTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA mutant NA NA NA NA NA 2336 260 0.9938633 0.9987815 0.9963224 0.9991516 0.9867011 0.9681326 0.9514688 NA NA 0.02573069 0.0473127 0.9929264 0.9598007 NA 0.03652169 NA FALSE NA 0 -2.027 NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00001710069 intron_variant 0.718036 0.26582 0.03797 0.074388 0.5564508 0.0945736 4.081031e-17 FALSE 4.08975e-06 ENSE00001710069_BRK ENSE00001710069 BRK 2 152402829 152402998 - 30 99 41 A,G; T,T NA NA NA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCTTATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGCCGAGTGCACATCATCACAATGCATAATTA 151546314 151546484 NA NA NA NA NA NA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCTTATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGCCGAGTGCACATCATCACAATGCATAATTA ATTTGCTTATGACCAGCTATATTTCTGTGTTTGCCTCTCAGATTAAATACAAAGAGGACTTGCAGGTCCTGAAGGGATTTGGCTGCTTCCTGTATGACACTCCTGACATGGTCCGCTCCCGGCACCTGCGGAAGCTCTGGGTGAGTGCACATCATCACAATGCATAATTA control 114 22 0.03419207 0 0.01709603 294 1504 0 0.0490035 0.02450175 0.9991516 0.9867011 0.9681326 0.9514688 -0.9649596 -0.9867011 -0.9681326 -0.9024653 0.9929264 0.9598007 -0.9758303 -0.9352989 0.04053142 TRUE TRUE NA NA NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00001710069 NA NA NA NA NA NA NA 4.081031e-17 FALSE NA ENSE00001710088_000 ENSE00001710088 000 12 48377115 48377284 - 53 54 63 NA NA NA NA NA CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 NA NA NA NA NA NA CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC natural 216 311 0.8548681 0.8428681 0.8488681 666 1749 0.8897066 0.9640549 0.9268808 0.8548681 0.8428681 0.8897066 0.9640549 0 0 0 0 0.8488681 0.9268808 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003536261 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001710088_001 ENSE00001710088 001 12 48377115 48377284 - 53 54 63 C T 48377131 1072 154 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAAATGGGAAGGTCTTTTC 47983331 47983501 47983347 47983348 47983348 downstr_intron 37 1.711538 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAAATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 623 21 0.9650592 0.8531946 0.9091269 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.07535254 -0.1108603 0.8488681 0.9268808 NA -0.0177539 NA FALSE NA 0 -1.528 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 2/7 rs376235805 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0002 T:0.001 TCT C,T 0.0004695 12:47983348 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant 1.055965 0.21995 0.04784 0.084033 0.7322785 0.0945736 1 TRUE 0.000489728 ENSE00001710088_003 ENSE00001710088 003 12 48377115 48377284 - 53 54 63 C T 48377156 1074 129 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGACTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983372 47983373 47983373 downstr_intron 12 1.230769 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGACTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 155 115 0.9785399 0.8641071 0.9213235 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.08883322 -0.09994778 0.8488681 0.9268808 NA -0.005557279 NA FALSE NA 0 -0.934 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 2/7 1 NA GCC C,T 8.236e-06 12:47983373 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant 2.323337 0.32698 0.0993 0.084033 0.8517772 0.21012 1 TRUE 4.0655e-06 ENSE00001710088_004 ENSE00001710088 004 12 48377115 48377284 - 53 54 63 C T 48377158 1075 127 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGAGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983374 47983375 47983375 downstr_intron 10 1.192308 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGAGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 79 218 0.9890929 0.9640552 0.976574 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.09938625 2.685672e-07 0.8488681 0.9268808 NA 0.04969326 NA FALSE NA 0 -0.065 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 2/7 rs534805237 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCC C,T 1.647e-05 12:47983375 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant 2.255339 0.22807 0.02505 0.084033 0.8354802 0.226451 1 TRUE 4.06504e-06 ENSE00001710088_005 ENSE00001710088 005 12 48377115 48377284 - 53 54 63 C G 48377163 1076 122 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGACTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983379 47983380 47983380 downstr_intron 5 1.096154 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGACTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 372 145 0 0.002213985 0.001106993 0.8548681 0.8428681 0.8897066 0.9640549 NA NA -0.8897066 -0.9618409 0.8488681 0.9268808 NA -0.9257738 NA TRUE NA 0.998 6.999 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW COL2A1 HGNC 2200 ENST00000483376 2/7 rs374056956 1 NA G:0 G:0.0001 ACT C,G 8.236e-06 12:47983380 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 splice_region_variant 2.507304 0.99387 0.99415 0.084033 0.98149 0.988357 1 TRUE 8.12889e-06 ENSE00001710088_007 ENSE00001710088 007 12 48377115 48377284 - 53 54 63 G A 48377171 1078 114 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGATCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983387 47983388 47983388 exon -4 0.9444444 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGATCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant 11 23 0.85 0.9465916 0.8982958 270 183 0.981664 1 0.990832 0.8548681 0.8428681 0.8897066 0.9640549 -0.004868114 0.1037235 0.09195733 0.03594509 0.8488681 0.9268808 0.04942768 0.06395121 0.01452353 FALSE FALSE 0 -1.881 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47983388 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 synonymous_variant 0.73159 0.9648 0.08887 0 0.6021835 0 1 TRUE 0.000410452 ENSE00001710088_008 ENSE00001710088 008 12 48377115 48377284 - 53 54 63 G C 48377171 1079 114 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGAGCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983387 47983388 47983388 exon -4 0.9444444 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGAGCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 13 195 1 0.9898264 0.9949132 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.1102934 0.02577148 0.8488681 0.9268808 NA 0.06803242 NA FALSE NA 0 -1.881 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003536261 missense_variant 0.793786 0.96882 0.27477 0 0.5346341 0 1 TRUE 8.12777e-06 ENSE00001710088_009 ENSE00001710088 009 12 48377115 48377284 - 53 54 63 G T 48377197 1080 88 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCACAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983413 47983414 47983414 exon 25 0.462963 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCACAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 203 46 0.9681988 0.8054669 0.8868328 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.07849219 -0.1585881 0.8488681 0.9268808 NA -0.04004794 NA FALSE NA 0.994 4.785 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 2/8 1 NA GGG G,T 8.236e-06 12:47983414 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 missense_variant 3.713449 0.98656 0.96656 0.736574 0.9975061 0 1 TRUE NA ENSE00001710088_011 ENSE00001710088 011 12 48377115 48377284 - 53 54 63 G A 48377199 1082 86 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCTCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983415 47983416 47983416 exon 23 0.4259259 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCTCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 60 62 1 1 1 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.1102934 0.03594509 0.8488681 0.9268808 NA 0.07311922 NA FALSE NA 1 3.348 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 2/8 rs570533789 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGG G,A 8.236e-06 12:47983416 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 missense_variant 4.53934 0.99002 0.95313 0.736574 0.9970143 0 1 TRUE 4.06402e-06 ENSE00001710088_012 ENSE00001710088 012 12 48377115 48377284 - 53 54 63 G A 48377205 1083 80 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCTTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983421 47983422 47983422 exon 17 0.3148148 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCTTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 277 449 0.9881328 0.9918014 0.9899671 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.09842612 0.02774645 0.8488681 0.9268808 NA 0.06308628 NA FALSE NA 0.999 6.555 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 2/8 1 NA AGG G,A 8.236e-06 12:47983422 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 missense_variant 6.507689 0.99464 0.98636 0.736574 0.9980081 0 1 TRUE 4.06464e-06 ENSE00001710088_013 ENSE00001710088 013 12 48377115 48377284 - 53 54 63 A C 48377207 1084 78 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCGCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983423 47983424 47983424 exon 15 0.2777778 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCGCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 1240 230 0.9908013 0.9920068 0.991404 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.1010946 0.02795189 0.8488681 0.9268808 NA 0.06452326 NA FALSE NA 0.002 -0.751 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 2/8 1 NA GAG A,C 8.236e-06 12:47983424 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 synonymous_variant 0.058135 0.97035 0.23076 0.736574 0.8049412 0 1 TRUE NA ENSE00001710088_014 ENSE00001710088 014 12 48377115 48377284 - 53 54 63 G T 48377218 1085 67 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGAATTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983434 47983435 47983435 exon 4 0.07407407 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGAATTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant 16 73 0.7783014 0.85 0.8141507 663 970 0.9555689 0.9635653 0.9595671 0.8548681 0.8428681 0.8897066 0.9640549 -0.0765667 0.007131881 0.06586227 -0.0004896209 0.8488681 0.9268808 -0.03471741 0.03268632 0.06740374 FALSE FALSE 1 3.289 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 2/8 rs121912885&CM002754 1 NA AGT G,T 3.295e-05 12:47983435 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 missense_variant 4.4786 0.99126 0.98673 0.736574 0.9929431 0 1 TRUE 1.62664e-05 ENSE00001710088_015 ENSE00001710088 015 12 48377115 48377284 - 53 54 63 C T 48377220 1086 65 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGAACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983436 47983437 47983437 exon 2 0.03703704 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGAACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 1256 95 0.9643398 0.988856 0.9765979 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.07463311 0.02480105 0.8488681 0.9268808 NA 0.04971708 NA FALSE NA 1 3.802 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW COL2A1 HGNC 2200 ENST00000483376 2/8 1 NA TCC C,T 8.236e-06 12:47983437 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 missense_variant 6.552633 0.98983 0.97763 0.736574 0.9979431 0 1 TRUE 4.06709e-06 ENSE00001710088_018 ENSE00001710088 018 12 48377115 48377284 - 53 54 63 C T 48377242 1089 43 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACACTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983458 47983459 47983459 upstr_intron -21 -0.3174603 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACACTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 39 137 1 0.9945412 0.9972706 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.1102934 0.03048632 0.8488681 0.9268808 NA 0.07038984 NA FALSE NA 0 -1.216 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1/7 rs371969241 1 NA T:0 T:0.0001 GCG C,T 0.0001153 12:47983459 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant -0.600002 0.0928 0.00931 0.084033 0.4365195 0.177659 1 TRUE 0.000142686 ENSE00001710088_019 ENSE00001710088 019 12 48377115 48377284 - 53 54 63 G A 48377243 1090 42 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAATGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983459 47983460 47983460 upstr_intron -22 -0.3333333 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAATGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 62 153 0.9666006 0.959849 0.9632248 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.07689398 -0.004205935 0.8488681 0.9268808 NA 0.03634402 NA FALSE NA 0.001 -0.755 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1/7 1 NA CGT G,A 4.118e-05 12:47983460 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant -0.362886 0.15123 0.01085 0.084033 0.4269612 0.177659 1 TRUE 2.44748e-05 ENSE00001710088_020 ENSE00001710088 020 12 48377115 48377284 - 53 54 63 A G 48377246 1091 39 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCCAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983462 47983463 47983463 upstr_intron -25 -0.3809524 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCCAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 36 287 0 0 0 0.8548681 0.8428681 0.8897066 0.9640549 NA NA -0.8897066 -0.9640549 0.8488681 0.9268808 NA -0.9268808 NA TRUE NA 1 4.982 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1/7 1 NA TAG A,G 8.237e-06 12:47983463 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant 0.621998 0.9728 0.93154 0.084033 0.6547253 0.756996 1 TRUE NA ENSE00001710088_021 ENSE00001710088 021 12 48377115 48377284 - 53 54 63 G A 48377247 1092 38 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGTTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983463 47983464 47983464 upstr_intron -26 -0.3968254 CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGTTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant 24 12 0.85 0.85 0.85 NA NA NA NA NA 0.8548681 0.8428681 0.8897066 0.9640549 -0.004868114 0.007131881 NA NA 0.8488681 0.9268808 0.001131884 NA NA NA FALSE 0.903 0.588 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1/7 1 NA AGC G,A 3.295e-05 12:47983464 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant -0.138573 0.25656 0.19193 0.084033 0.6771488 0.191381 1 TRUE 0.000102046 ENSE00001710088_022 ENSE00001710088 022 12 48377115 48377284 - 53 54 63 A C 48377254 1093 31 CCTCCCTGGGGGCCAGGGCAGCAAACTCACGCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983470 47983471 47983471 upstr_intron -33 -0.5079365 CCTCCCTGGGGGCCAGGGCAGCAAACTCACGCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 275 496 0.9632637 0.9536249 0.9584443 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.07355709 -0.01043002 0.8488681 0.9268808 NA 0.03156353 NA FALSE NA 0 -1.168 . intron_variant&non_coding_transcript_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1/7 rs374451797 1 NA C:0 C:0.0001 GAG A,C 6.59e-05 12:47983471 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant 0.583047 0.36892 0.18854 0.084033 0.7899248 0.105903 1 TRUE 6.13341e-05 ENSE00001710088_025 ENSE00001710088 025 12 48377115 48377284 - 53 54 63 C G 48377273 1096 12 CCTCCCTGGGGCCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 47983489 47983490 47983490 upstr_intron -52 -0.8095238 CCTCCCTGGGGCCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC mutant NA NA NA NA NA 141 10 0.9866937 1 0.9933469 0.8548681 0.8428681 0.8897066 0.9640549 NA NA 0.09698709 0.03594509 0.8488681 0.9268808 NA 0.06646609 NA FALSE NA 0 -0.604 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47983490 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003536261 intron_variant 0.316823 0.34952 0.20182 0.084033 0.6683926 0.0945736 1 TRUE 8.37872e-06 ENSE00001710088_BRK ENSE00001710088 BRK 12 48377115 48377284 - 53 54 63 A,G; T,T NA NA NA CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTTTGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGCCGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC 47983331 47983501 NA NA NA NA NA NA CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTTTGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGCCGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC CCTCCCTGGGGGCCAGGGCAGCAAACTCACTCCTTTGCTAACGCTTGTCACTTCGGCTTCTAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGTGAGTATGGGGCTCTTTGGACCTGCAACCTGTTTAGATGGGAAGGTCTTTTC control 256 79 0 0 0 445 641 0 0.03162007 0.01581004 0.8548681 0.8428681 0.8897066 0.9640549 -0.8548681 -0.8428681 -0.8897066 -0.9324348 0.8488681 0.9268808 -0.8488681 -0.9110707 0.06220262 TRUE TRUE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003536261 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001710254_000 ENSE00001710254 000 11 71500770 71500939 + 59 63 48 NA NA NA NA NA GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 NA NA NA NA NA NA GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT natural 367 302 0.9851745 0.9906703 0.9879224 3979 4911 0.8270411 0.8857053 0.8563732 0.9851745 0.9906703 0.8270411 0.8857053 0 0 0 0 0.9879224 0.8563732 0 0 0 FALSE FALSE NA NA NA NA NA FAM86C1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM86C1 NA NA NA ENSG00000158483 ENSE00002482926 NA NA NA NA NA NA NA 1.479059e-08 FALSE NA ENSE00001710254_001 ENSE00001710254 001 11 71500770 71500939 + 59 63 48 C T 71500784 2020 15 GCGTGTTTAATGTTTCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789737 71789738 71789738 upstr_intron -45 -0.7457627 GCGTGTTTAATGTTTCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 44 27 0.9488 0.8992821 0.9240411 214 664 0.9904923 0.9989616 0.994727 0.9851745 0.9906703 0.8270411 0.8857053 -0.03637449 -0.09138812 0.1634512 0.1132563 0.9879224 0.8563732 -0.0638813 0.1383537 0.202235 FALSE FALSE 0.029 0.245 . intron_variant&NMD_transcript_variant MODIFIER FAM86C1 HGNC 25561 ENST00000510443 1/4 1 NA TCC .,T 8.238e-06 11:71789738 FAM86C1 HGNC Symbol protein_coding 13726 ENSG00000158483 ENSE00002482926 intron_variant 0.205081 0.23272 0.04987 0.088506 0.3737839 0.0536234 1.479059e-08 FALSE 4.07894e-06 ENSE00001710254_002 ENSE00001710254 002 11 71500770 71500939 + 59 63 48 T C 71500792 2021 23 GCGTGTTTAATGTTCCTGTGAACGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789745 71789746 71789746 upstr_intron -37 -0.6101695 GCGTGTTTAATGTTCCTGTGAACGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 409 82 1 0.9922099 0.9961049 0.9851745 0.9906703 0.8270411 0.8857053 NA NA 0.1729589 0.1065046 0.9879224 0.8563732 NA 0.1397317 NA FALSE NA 0.015 0.22 . intron_variant&NMD_transcript_variant MODIFIER FAM86C1 HGNC 25561 ENST00000510443 1/4 1 NA ATG .,C 8.238e-06 11:71789746 FAM86C1 HGNC Symbol protein_coding 13726 ENSG00000158483 ENSE00002482926 intron_variant -0.104227 0.20211 0.03371 0.088506 0.4046844 0.0536234 1.479059e-08 FALSE 8.15581e-06 ENSE00001710254_003 ENSE00001710254 003 11 71500770 71500939 + 59 63 48 C T 71500798 2022 29 GCGTGTTTAATGTTCCTGTGAATGCACCTTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789751 71789752 71789752 upstr_intron -31 -0.5084746 GCGTGTTTAATGTTCCTGTGAATGCACCTTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 620 177 0.9871305 0.9991054 0.993118 0.9851745 0.9906703 0.8270411 0.8857053 NA NA 0.1600893 0.1134001 0.9879224 0.8563732 NA 0.1367447 NA FALSE NA 0.027 0.464 . intron_variant&NMD_transcript_variant MODIFIER FAM86C1 HGNC 25561 ENST00000510443 1/4 1 NA CCT .,T 8.238e-06 11:71789752 FAM86C1 HGNC Symbol protein_coding 13726 ENSG00000158483 ENSE00002482926 intron_variant 0.30697 0.37155 0.05986 0.088506 0.416365 0.0883413 1.479059e-08 FALSE 4.0782e-06 ENSE00001710254_004 ENSE00001710254 004 11 71500770 71500939 + 59 63 48 T C 71500811 2023 42 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCCCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789764 71789765 71789765 upstr_intron -18 -0.2881356 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCCCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 14 39 1 0.9977863 0.9988931 33 536 1 0.9927585 0.9963793 0.9851745 0.9906703 0.8270411 0.8857053 0.01482553 0.007115996 0.1729589 0.1070533 0.9879224 0.8563732 0.01097076 0.1400061 0.1290353 FALSE FALSE 0.023 1.765 . intron_variant&NMD_transcript_variant MODIFIER FAM86C1 HGNC 25561 ENST00000510443 1/4 1 NA CTC .,C 8.238e-06 11:71789765 FAM86C1 HGNC Symbol protein_coding 13726 ENSG00000158483 ENSE00002482926 intron_variant -0.137861 0.08691 0.01735 0.088506 0.670685 0.114622 1.479059e-08 FALSE NA ENSE00001710254_005 ENSE00001710254 005 11 71500770 71500939 + 59 63 48 T C 71500832 2024 63 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCCTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789785 71789786 71789786 exon 4 0.06349206 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCCTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 1462 647 0.9963969 0.8374112 0.916904 0.9851745 0.9906703 0.8270411 0.8857053 NA NA 0.1693557 -0.04829414 0.9879224 0.8563732 NA 0.06053078 NA FALSE NA 0.995 1.22 . synonymous_variant&NMD_transcript_variant LOW FAM86C1 HGNC 25561 ENST00000510443 2/5 rs370136869 1 NA C:0 C:0.0002 CTT .,C 3.295e-05 11:71789786 FAM86C1 HGNC Symbol protein_coding 13726 ENSG00000158483 ENSE00002482926 synonymous_variant -0.650821 0.83528 0.01018 0.460665 0.6635667 0 1.479059e-08 FALSE 2.44678e-05 ENSE00001710254_006 ENSE00001710254 006 11 71500770 71500939 + 59 63 48 A G 71500837 2025 68 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAGGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789790 71789791 71789791 exon 9 0.1428571 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAGGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant 32 21 1 1 1 NA NA NA NA NA 0.9851745 0.9906703 0.8270411 0.8857053 0.01482553 0.009329739 NA NA 0.9879224 0.8563732 0.01207763 NA NA NA FALSE 1 3.934 . synonymous_variant&NMD_transcript_variant LOW FAM86C1 HGNC 25561 ENST00000510443 2/5 rs528470793 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAG .,G 8.238e-06 11:71789791 FAM86C1 HGNC Symbol protein_coding 13726 ENSG00000158483 ENSE00002482926 synonymous_variant -0.174181 0.91225 0.71188 0.460665 0.6890081 0 1.479059e-08 FALSE 4.0809e-06 ENSE00001710254_007 ENSE00001710254 007 11 71500770 71500939 + 59 63 48 G T 71500873 2026 104 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTTCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789826 71789827 71789827 exon -19 0.7142857 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTTCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 196 451 0.9912856 0.9712432 0.9812644 0.9851745 0.9906703 0.8270411 0.8857053 NA NA 0.1642444 0.08553788 0.9879224 0.8563732 NA 0.1248912 NA FALSE NA 1 0.375 . synonymous_variant&NMD_transcript_variant LOW FAM86C1 HGNC 25561 ENST00000510443 2/5 rs373348598 1 NA A:0.0003 A:0 TGC .,T 8.263e-06 11:71789827 FAM86C1 HGNC Symbol protein_coding 13726 ENSG00000158483 ENSE00002482926 synonymous_variant -0.50752 0.87865 0.37243 0.67177 0.5791058 0 1.479059e-08 FALSE 4.10469e-06 ENSE00001710254_008 ENSE00001710254 008 11 71500770 71500939 + 59 63 48 T C 71500900 2027 131 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789853 71789854 71789854 downstr_intron 9 1.191489 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATCCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 104 2407 1 0.9999343 0.9999671 0.9851745 0.9906703 0.8270411 0.8857053 NA NA 0.1729589 0.114229 0.9879224 0.8563732 NA 0.1435939 NA FALSE NA 0 -0.15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:71789854 FAM86C1 HGNC Symbol protein_coding 13726 ENSG00000158483 ENSE00002482926 intron_variant -0.204528 0.04507 0.00014 0.088506 0.6216524 0.0513809 1.479059e-08 FALSE 0.0166575 ENSE00001710254_009 ENSE00001710254 009 11 71500770 71500939 + 59 63 48 T A 71500900 2028 131 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATACCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 71789853 71789854 71789854 downstr_intron 9 1.191489 GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATACCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT mutant NA NA NA NA NA 1009 1573 0.9958401 0.9953118 0.995576 0.9851745 0.9906703 0.8270411 0.8857053 NA NA 0.168799 0.1096065 0.9879224 0.8563732 NA 0.1392027 NA FALSE NA 0 -0.15 NA NA NA FAM86C1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM86C1 NA NA NA ENSG00000158483 ENSE00002482926 intron_variant 0.265661 0.06756 0.00995 0.088506 0.6426992 0.0513809 1.479059e-08 FALSE 4.11702e-05 ENSE00001710254_BRK ENSE00001710254 BRK 11 71500770 71500939 + 59 63 48 A,G; T,T NA NA NA GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACTTAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGCCAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT 71789723 71789893 NA NA NA NA NA NA GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACTTAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGCCAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT GCGTGTTTAATGTTCCTGTGAATGCACCCTTGAGATTTCTCTCTCTCCTCTCCACACAGAGCTTAGAAGCAAAGTTAAGAGACTCATCAGATTCTGAGCTGCTGCGGGATATTTTGCAGAAGGTAAGAATTCCAGAGTCCCTGGGACTCATGACCCTGCCTCCTGAATCT control 67 77 0 0 0 80 15 0 0 0 0.9851745 0.9906703 0.8270411 0.8857053 -0.9851745 -0.9906703 -0.8270411 -0.8857053 0.9879224 0.8563732 -0.9879224 -0.8563732 0.1315491 TRUE TRUE NA NA NA NA NA FAM86C1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM86C1 NA NA NA ENSG00000158483 ENSE00002482926 NA NA NA NA NA NA NA 1.479059e-08 FALSE NA ENSE00001710346_000 ENSE00001710346 000 14 68026277 68026446 + 48 84 38 NA NA NA NA NA TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGCCTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 NA NA NA NA NA NA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA natural 21 42 0.9991516 0.9022787 0.9507152 487 1561 0.9907368 0.9916192 0.991178 0.9991516 0.9022787 0.9907368 0.9916192 0 0 0 0 0.9507152 0.991178 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00001710346 NA NA NA NA NA NA NA 0.0006602846 FALSE NA ENSE00001710346_002 ENSE00001710346 002 14 68026277 68026446 + 48 84 38 G A 68026302 744 26 TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGCCTTCTGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559584 67559585 67559585 upstr_intron -23 -0.4583333 TCTCCTGGTGATTGTTGGGATTAACAGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 17 14 1 0.95 0.975 0.9991516 0.9022787 0.9907368 0.9916192 NA NA 0.009263249 -0.04161924 0.9507152 0.991178 NA -0.016178 NA FALSE NA 0 -1.035 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 4/28 1 NA CGG G,A 3.339e-05 14:67559585 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001710346 intron_variant -0.254445 0.2506 0.02256 0.077785 0.4934614 0.0936356 0.0006602846 FALSE 4.94886e-05 ENSE00001710346_004 ENSE00001710346 004 14 68026277 68026446 + 48 84 38 G T 68026306 746 30 TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGCATTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559588 67559589 67559589 upstr_intron -19 -0.375 TCTCCTGGTGATTGTTGGGATTAACGGAATGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 151 417 1 1 1 0.9991516 0.9022787 0.9907368 0.9916192 NA NA 0.009263249 0.008380759 0.9507152 0.991178 NA 0.008822004 NA FALSE NA 0.058 1.635 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 4/28 1 NA AGG G,T 8.332e-06 14:67559589 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001710346 intron_variant -0.135117 0.2437 0.15625 0.077785 0.654814 0.190979 0.0006602846 FALSE NA ENSE00001710346_005 ENSE00001710346 005 14 68026277 68026446 + 48 84 38 G C 68026307 747 31 TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGGCTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559589 67559590 67559590 upstr_intron -18 -0.3541667 TCTCCTGGTGATTGTTGGGATTAACGGAAGCCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 433 32 0.9980835 1 0.9990417 0.9991516 0.9022787 0.9907368 0.9916192 NA NA 0.007346743 0.008380759 0.9507152 0.991178 NA 0.007863751 NA FALSE NA 0 -0.555 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:67559590 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001710346 intron_variant 0.177405 0.18768 0.00943 0.077785 0.6039794 0.165385 0.0006602846 FALSE 1.06444e-05 ENSE00001710346_006 ENSE00001710346 006 14 68026277 68026446 + 48 84 38 G T 68026307 748 31 TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGACTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559589 67559590 67559590 upstr_intron -18 -0.3541667 TCTCCTGGTGATTGTTGGGATTAACGGAAGTCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 142 182 1 1 1 0.9991516 0.9022787 0.9907368 0.9916192 NA NA 0.009263249 0.008380759 0.9507152 0.991178 NA 0.008822004 NA FALSE NA 0 -0.555 NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00001710346 intron_variant 0.315622 0.19194 0.03479 0.077785 0.6038723 0.165385 0.0006602846 FALSE 5.32221e-06 ENSE00001710346_010 ENSE00001710346 010 14 68026277 68026446 + 48 84 38 G C 68026355 752 79 TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAAGAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGCCTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559637 67559638 67559638 exon 31 0.3690476 TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTCTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 22 77 1 1 1 0.9991516 0.9022787 0.9907368 0.9916192 NA NA 0.009263249 0.008380759 0.9507152 0.991178 NA 0.008822004 NA FALSE NA 1 2.198 . missense_variant MODERATE PLEKHH1 HGNC 17733 ENST00000329153 5/29 1 deleterious(0.01) benign(0.303) NA TGT G,C 8.278e-06 14:67559638 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001710346 missense_variant 3.55796 0.94333 0.87957 0.643511 0.990086 0 0.0006602846 FALSE NA ENSE00001710346_011 ENSE00001710346 011 14 68026277 68026446 + 48 84 38 G A 68026367 753 91 TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGTTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGCCTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559649 67559650 67559650 exon -42 0.5119048 TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAACTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 296 227 0.9721209 0.9988177 0.9854693 0.9991516 0.9022787 0.9907368 0.9916192 NA NA -0.01861588 0.007198497 0.9507152 0.991178 NA -0.005708694 NA FALSE NA 1 6.211 . missense_variant MODERATE PLEKHH1 HGNC 17733 ENST00000329153 5/29 1 deleterious(0) probably_damaging(0.995) NA AGC G,A 1.655e-05 14:67559650 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001710346 missense_variant 7.015942 0.99328 0.97248 0.643511 0.9991226 0 0.0006602846 FALSE 8.50615e-06 ENSE00001710346_013 ENSE00001710346 013 14 68026277 68026446 + 48 84 38 C A 68026378 755 102 TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTTATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGCCTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559660 67559661 67559661 exon -31 0.6428571 TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATAAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 257 23 0.9534557 1 0.9767278 0.9991516 0.9022787 0.9907368 0.9916192 NA NA -0.03728106 0.008380759 0.9507152 0.991178 NA -0.01445015 NA FALSE NA 1 0.448 . synonymous_variant LOW PLEKHH1 HGNC 17733 ENST00000329153 5/29 1 NA TCA C,A 9.932e-05 14:67559661 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001710346 synonymous_variant 2.740937 0.97585 0.85434 0.643511 0.7916589 0 0.0006602846 FALSE 0.000106391 ENSE00001710346_015 ENSE00001710346 015 14 68026277 68026446 + 48 84 38 G A 68026403 757 127 TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCACCTTTGTCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGCCTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559685 67559686 67559686 exon -6 0.9404762 TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGACAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 271 164 0.9596627 1 0.9798313 0.9991516 0.9022787 0.9907368 0.9916192 NA NA -0.03107407 0.008380759 0.9507152 0.991178 NA -0.01134666 NA FALSE NA 0.984 1.138 . missense_variant MODERATE PLEKHH1 HGNC 17733 ENST00000329153 5/29 rs373142612 1 tolerated(0.43) benign(0.001) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGC G,A 1.656e-05 14:67559686 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001710346 missense_variant 1.88457 0.88751 0.69985 0.643511 0.8703639 0 0.0006602846 FALSE NA ENSE00001710346_016 ENSE00001710346 016 14 68026277 68026446 + 48 84 38 G T 68026417 758 141 TGCCTCTGGCAGGCCTCCAAGATGAGTTTACAACCCACCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTCTGCAAGAAAGAGAGGGCCTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 67559699 67559700 67559700 downstr_intron 9 1.243243 TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGTAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA mutant NA NA NA NA NA 46 492 1 1 1 0.9991516 0.9022787 0.9907368 0.9916192 NA NA 0.009263249 0.008380759 0.9507152 0.991178 NA 0.008822004 NA FALSE NA 0 -0.135 . intron_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000329153 5/28 1 NA GGA G,T 1.657e-05 14:67559700 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00001710346 intron_variant -0.079053 0.19626 0.14718 0.074388 0.6100984 0.0544666 0.0006602846 FALSE NA ENSE00001710346_BRK ENSE00001710346 BRK 14 68026277 68026446 + 48 84 38 A,G; T,T NA NA NA TGCCTCTGGCAGGCCTCCAAGATGAGTTTCCAACCCGGCTTTGCCAACTTGAGTGTCACCCATTCCTTGATCTTTGCAGCTTTTTCTTGAACAGTTTTTGCTTCCTCTGCCCTCATCTGCTTAAGCAAGAAAGAGAGGGCCTTCCGTTAATCCCAACAATCACCAGGAGA 67559559 67559729 NA NA NA NA NA NA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCTTAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGCCGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA TCTCCTGGTGATTGTTGGGATTAACGGAAGGCCCTCTCTTTCTTGCAGAAGCAGATGAGGGCAGAGGAAGCAAAAACTGTTCAAGAAAAAGCTGCAAAGATCAAGGAATGGGTGACACTCAAGTTGGCAAAGGTGGGTTGGAAACTCATCTTGGAGGCCTGCCAGAGGCA control NA NA NA NA NA 92 201 0.1077558 0.09129905 0.09952741 0.9991516 0.9022787 0.9907368 0.9916192 NA NA -0.882981 -0.9003202 0.9507152 0.991178 NA -0.8916506 NA TRUE NA NA NA NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00001710346 NA NA NA NA NA NA NA 0.0006602846 FALSE NA ENSE00001712691_000 ENSE00001712691 000 7 28527739 28527908 + 54 72 44 NA NA NA NA NA AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 NA NA NA NA NA NA AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT natural 55 51 0.999014 0.9994525 0.9992333 3456 4336 0.8723948 0.862016 0.8672054 0.999014 0.9994525 0.8723948 0.862016 0 0 0 0 0.9992333 0.8672054 0 0 0 FALSE FALSE NA NA NA NA NA CREB5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CREB5 NA NA NA ENSG00000146592 ENSE00003641917 NA NA NA NA NA NA NA 0.9898446 TRUE NA ENSE00001712691_002 ENSE00001712691 002 7 28527739 28527908 + 54 72 44 A T 28527793 757 55 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGTTTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488174 28488175 28488175 exon 1 0.01388889 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGTTTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 866 757 0.9955443 1 0.9977722 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1231495 0.137984 0.9992333 0.8672054 NA 0.1305667 NA FALSE NA 1 3.58 . splice_region_variant&5_prime_UTR_variant LOW CREB5 HGNC 16844 ENST00000424599 4/7 1 NA GAT A,T 8.236e-06 7:28488175 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 missense_variant 3.730153 0.98479 0.88412 0.554377 0.9706566 0 0.9898446 TRUE 4.06521e-06 ENSE00001712691_003 ENSE00001712691 003 7 28527739 28527908 + 54 72 44 T A 28527795 758 57 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATATATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488176 28488177 28488177 exon 3 0.04166667 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATATATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 464 1887 1 0.9291679 0.964584 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1276052 0.06715192 0.9992333 0.8672054 NA 0.09737854 NA FALSE NA 1 3.747 . splice_region_variant&5_prime_UTR_variant LOW CREB5 HGNC 16844 ENST00000424599 4/7 COSM1472075 1 NA TTT T,A 8.236e-06 7:28488177 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 splice_region_variant 2.415985 0.98379 0.97943 0.554377 0.8315943 0 0.9898446 TRUE 4.06501e-06 ENSE00001712691_004 ENSE00001712691 004 7 28527739 28527908 + 54 72 44 C G 28527807 759 69 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCGAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488188 28488189 28488189 exon 15 0.2083333 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCGAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 939 1330 0.9988106 0.9931915 0.9960011 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1264158 0.1311755 0.9992333 0.8672054 NA 0.1287956 NA FALSE NA 1 2.606 . 5_prime_UTR_variant MODIFIER CREB5 HGNC 16844 ENST00000424599 4/7 1 NA CCA C,G 8.236e-06 7:28488189 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 synonymous_variant 1.493637 0.98254 0.8413 0.554377 0.8017641 0 0.9898446 TRUE 4.06445e-06 ENSE00001712691_005 ENSE00001712691 005 7 28527739 28527908 + 54 72 44 A G 28527809 760 71 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAGGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488190 28488191 28488191 exon 17 0.2361111 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAGGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 697 207 1 0.9575578 0.9787789 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1276052 0.09554179 0.9992333 0.8672054 NA 0.1115735 NA FALSE NA 1 4.808 . 5_prime_UTR_variant MODIFIER CREB5 HGNC 16844 ENST00000424599 4/7 rs562749374 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAG A,G 8.236e-06 7:28488191 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 missense_variant 4.214771 0.98777 0.97763 0.554377 0.9959423 0 0.9898446 TRUE NA ENSE00001712691_006 ENSE00001712691 006 7 28527739 28527908 + 54 72 44 G C 28527820 761 82 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGCAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488201 28488202 28488202 exon 28 0.3888889 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGCAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 731 91 0.9980128 1 0.9990064 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1256179 0.137984 0.9992333 0.8672054 NA 0.131801 NA FALSE NA 1 9.413 . missense_variant MODERATE CREB5 HGNC 16844 ENST00000424599 4/7 COSM3637778 1 tolerated(0.07) possibly_damaging(0.733) NA GGA G,C 1.647e-05 7:28488202 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 missense_variant 4.623117 0.99596 0.99427 0.554377 0.9949028 0 0.9898446 TRUE 8.12836e-06 ENSE00001712691_007 ENSE00001712691 007 7 28527739 28527908 + 54 72 44 C T 28527833 762 95 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCTGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488214 28488215 28488215 exon -32 0.5694444 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCTGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 243 979 0.9916221 0.9999611 0.9957916 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1192273 0.1379451 0.9992333 0.8672054 NA 0.1285862 NA FALSE NA 1 5.742 rs137912652 missense_variant MODERATE CREB5 HGNC 16844 ENST00000424599 4/7 rs137912652 1 deleterious(0.02) probably_damaging(0.966) NA T:0.0002 T:0 CCG C,T 4.942e-05 7:28488215 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 missense_variant 6.940802 0.99273 0.9775 0.554377 0.9937064 0 0.9898446 TRUE 4.47093e-05 ENSE00001712691_008 ENSE00001712691 008 7 28527739 28527908 + 54 72 44 G A 28527834 763 96 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCATTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488215 28488216 28488216 exon -31 0.5833333 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCATTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 26 355 0.9243996 0.9887991 0.9565994 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.05200476 0.1267831 0.9992333 0.8672054 NA 0.08939393 NA FALSE NA 0 -2.599 . synonymous_variant LOW CREB5 HGNC 16844 ENST00000424599 4/7 1 NA CGT G,A 2.471e-05 7:28488216 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 synonymous_variant 1.531097 0.70509 0.07168 0.554377 0.7170061 0 0.9898446 TRUE 2.43861e-05 ENSE00001712691_009 ENSE00001712691 009 7 28527739 28527908 + 54 72 44 G A 28527838 764 100 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTATCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488219 28488220 28488220 exon -27 0.6388889 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTATCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 898 1519 0.9979182 0.9996233 0.9987708 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1255234 0.1376073 0.9992333 0.8672054 NA 0.1315654 NA FALSE NA 1 5.391 . missense_variant MODERATE CREB5 HGNC 16844 ENST00000424599 4/7 1 tolerated(0.11) benign(0.408) NA TGT G,A 8.236e-06 7:28488220 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 missense_variant 3.180755 0.99011 0.97098 0.554377 0.9946389 0 0.9898446 TRUE 4.06445e-06 ENSE00001712691_010 ENSE00001712691 010 7 28527739 28527908 + 54 72 44 G T 28527842 765 104 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTTCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488223 28488224 28488224 exon -23 0.6944444 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTTCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 654 205 1 0.9965869 0.9982934 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1276052 0.1345709 0.9992333 0.8672054 NA 0.131088 NA FALSE NA 1 9.413 . missense_variant MODERATE CREB5 HGNC 16844 ENST00000424599 4/7 1 deleterious(0) probably_damaging(0.996) NA TGC G,T 8.236e-06 7:28488224 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 missense_variant 6.711613 0.9959 0.99389 0.554377 0.9633289 0 0.9898446 TRUE 4.06524e-06 ENSE00001712691_011 ENSE00001712691 011 7 28527739 28527908 + 54 72 44 C T 28527858 766 120 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGTTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488239 28488240 28488240 exon -7 0.9166667 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGTTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 410 152 0.9889606 0.9764043 0.9826824 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1165658 0.1143883 0.9992333 0.8672054 NA 0.115477 NA FALSE NA 1 1.705 . synonymous_variant LOW CREB5 HGNC 16844 ENST00000424599 4/7 1 NA GCT C,T 8.236e-06 7:28488240 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 synonymous_variant 1.611159 0.98269 0.87427 0.554377 0.8030345 0 0.9898446 TRUE 1.6266e-05 ENSE00001712691_012 ENSE00001712691 012 7 28527739 28527908 + 54 72 44 T G 28527870 767 132 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGGGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488251 28488252 28488252 downstr_intron 6 1.139535 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGGGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 797 514 0.9873704 0.9947799 0.9910751 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1149756 0.1327639 0.9992333 0.8672054 NA 0.1238697 NA FALSE NA 1 6.603 . splice_region_variant&intron_variant LOW CREB5 HGNC 16844 ENST00000424599 4/6 1 NA GTG T,G 8.236e-06 7:28488252 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 splice_region_variant 2.001544 0.98907 0.99107 0.126639 0.9681163 0.982874 0.9898446 TRUE 4.0699e-06 ENSE00001712691_013 ENSE00001712691 013 7 28527739 28527908 + 54 72 44 C T 28527874 768 136 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGTGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488255 28488256 28488256 downstr_intron 10 1.232558 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGTGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 685 568 0.9947159 0.9917614 0.9932387 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1223211 0.1297454 0.9992333 0.8672054 NA 0.1260332 NA FALSE NA 0 -1.224 . intron_variant MODIFIER CREB5 HGNC 16844 ENST00000424599 4/6 rs375178323 1 NA T:0 T:0.0001 GCG C,T 2.471e-05 7:28488256 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 intron_variant 1.392065 0.21458 0.01862 0.126639 0.7900075 0.243464 0.9898446 TRUE 1.22266e-05 ENSE00001712691_014 ENSE00001712691 014 7 28527739 28527908 + 54 72 44 G A 28527875 769 137 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCAGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 28488256 28488257 28488257 downstr_intron 11 1.255814 AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCAGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT mutant NA NA NA NA NA 1507 946 0.9856906 0.9206464 0.9531685 0.999014 0.9994525 0.8723948 0.862016 NA NA 0.1132958 0.05863043 0.9992333 0.8672054 NA 0.08596309 NA FALSE NA 0.001 0.663 . intron_variant MODIFIER CREB5 HGNC 16844 ENST00000424599 4/6 1 NA CGG G,A 8.236e-06 7:28488257 CREB5 HGNC Symbol protein_coding 526573 ENSG00000146592 ENSE00003641917 intron_variant 1.181724 0.31572 0.11149 0.126639 0.7289426 0.170015 0.9898446 TRUE 1.22192e-05 ENSE00001712691_BRK ENSE00001712691 BRK 7 28527739 28527908 + 54 72 44 A,G; T,T NA NA NA AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCTTATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGCCGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT 28488120 28488290 NA NA NA NA NA NA AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCTTATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGCCGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT AGAAGATATTCATGGATTTCTTTTTCCTTCCTCCCTTTCCCTCTGATCCTTCAGATTTATGAGGAATCCAAGATGAATTTGGAGCAGGAGAGGCCGTTTGTCTGCAGTGCCCCAGGCTGCTCCCAGGTGAGTGTGCGGATCCTCCCTGCTCTGACATGCAGGGCCTGCTT control 440 116 0 0 0 180 1071 0.02267566 0 0.01133783 0.999014 0.9994525 0.8723948 0.862016 -0.999014 -0.9994525 -0.8497192 -0.862016 0.9992333 0.8672054 -0.9992333 -0.8558676 0.1433657 TRUE TRUE NA NA NA NA NA CREB5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CREB5 NA NA NA ENSG00000146592 ENSE00003641917 NA NA NA NA NA NA NA 0.9898446 TRUE NA ENSE00001712778_000 ENSE00001712778 000 2 28829309 28829478 + 54 72 44 NA NA NA NA NA GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 NA NA NA NA NA NA ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC natural 767 1704 0.849285 0.85 0.8496425 3642 2060 0.8602962 0.8452659 0.852781 0.849285 0.85 0.8602962 0.8452659 0 0 0 0 0.8496425 0.852781 0 0 0 FALSE FALSE NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003611457 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001712778_001 ENSE00001712778 001 2 28829309 28829478 + 54 72 44 T C 28829327 766 19 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTGGTTTGTTTCCATGGAAGT 28606441 28606611 28606459 28606460 28606460 upstr_intron -36 -0.6481481 ACTTCCATGGAAACAAACCACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 316 41 0.8306658 0.9373432 0.8840045 0.849285 0.85 0.8602962 0.8452659 NA NA -0.0296304 0.09207724 0.8496425 0.852781 NA 0.03122342 NA FALSE NA 0 -1.318 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 42/57 1 NA CTA T,C 2.471e-05 2:28606460 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 intron_variant -0.015898 0.16662 0.02108 0.074636 0.3012016 0.0820714 1.993153e-56 FALSE 4.88325e-05 ENSE00001712778_002 ENSE00001712778 002 2 28829309 28829478 + 54 72 44 A G 28829328 767 20 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGCAGTTTGTTTCCATGGAAGT 28606441 28606611 28606460 28606461 28606461 upstr_intron -35 -0.6296296 ACTTCCATGGAAACAAACTGCTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 150 245 0.7894093 0.9162528 0.852831 0.849285 0.85 0.8602962 0.8452659 NA NA -0.0708869 0.07098691 0.8496425 0.852781 NA 5.000542e-05 NA FALSE NA 0 -0.297 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 42/57 rs374305518 1 NA G:0 G:0.0001 TAC A,G 1.647e-05 2:28606461 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 intron_variant 0.063721 0.17048 0.04588 0.074636 0.3362186 0.0463016 1.993153e-56 FALSE 2.03444e-05 ENSE00001712778_003 ENSE00001712778 003 2 28829309 28829478 + 54 72 44 A G 28829331 768 23 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGCAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606463 28606464 28606464 upstr_intron -32 -0.5740741 ACTTCCATGGAAACAAACTACTGCACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 411 115 0.05094133 0.06208194 0.05651164 0.849285 0.85 0.8602962 0.8452659 NA NA -0.8093548 -0.783184 0.8496425 0.852781 NA -0.7962694 NA TRUE NA 0.001 -0.39 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 42/57 1 NA TAC A,G 8.237e-06 2:28606464 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 intron_variant 0.207686 0.22218 0.08603 0.074636 0.3235979 0.0843852 1.993153e-56 FALSE 4.06706e-06 ENSE00001712778_004 ENSE00001712778 004 2 28829309 28829478 + 54 72 44 C T 28829336 769 28 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACAGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606468 28606469 28606469 upstr_intron -27 -0.4814815 ACTTCCATGGAAACAAACTACTACACCTGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 515 187 0.985528 0.9717236 0.9786258 0.849285 0.85 0.8602962 0.8452659 NA NA 0.1252318 0.1264576 0.8496425 0.852781 NA 0.1258447 NA FALSE NA 0 -1.646 rs182221618 intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 42/57 rs182221618 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 1.647e-05 2:28606469 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 intron_variant 0.020076 0.14878 0.01502 0.074636 0.5298327 0.088735 1.993153e-56 FALSE 2.03295e-05 ENSE00001712778_005 ENSE00001712778 005 2 28829309 28829478 + 54 72 44 G A 28829337 770 29 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACATGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606469 28606470 28606470 upstr_intron -26 -0.462963 ACTTCCATGGAAACAAACTACTACACCCATGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 78 807 0.8532226 0.9546818 0.9039522 0.849285 0.85 0.8602962 0.8452659 NA NA -0.007073562 0.1094159 0.8496425 0.852781 NA 0.05117116 NA FALSE NA 0 -0.308 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 42/57 1 NA CGT G,A 1.647e-05 2:28606470 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 intron_variant -0.200802 0.16448 0.0361 0.074636 0.5713833 0.0839099 1.993153e-56 FALSE 4.87884e-05 ENSE00001712778_007 ENSE00001712778 007 2 28829309 28829478 + 54 72 44 T G 28829346 772 38 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAACGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606478 28606479 28606479 upstr_intron -17 -0.2962963 ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCGTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 75 38 0.004030838 0 0.002015419 0.849285 0.85 0.8602962 0.8452659 NA NA -0.8562653 -0.8452659 0.8496425 0.852781 NA -0.8507656 NA TRUE NA 0.995 3.598 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 42/57 1 NA CTT T,G 8.236e-06 2:28606479 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 intron_variant 0.668237 0.94131 0.78235 0.074636 0.6927451 0.957963 1.993153e-56 FALSE 4.06336e-06 ENSE00001712778_008 ENSE00001712778 008 2 28829309 28829478 + 54 72 44 T C 28829373 773 65 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAGGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606505 28606506 28606506 exon 11 0.1527778 ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACCTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 143 114 1 1 1 0.849285 0.85 0.8602962 0.8452659 NA NA 0.1397038 0.1547341 0.8496425 0.852781 NA 0.147219 NA FALSE NA 0.041 2.258 rs144578866 missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 43/58 rs144578866 1 tolerated(0.06) benign(0.077) NA C:0 C:0.0001 CTT T,C 1.647e-05 2:28606506 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 missense_variant 2.063437 0.39665 0.13443 0.553676 0.9808831 0 1.993153e-56 FALSE 2.03122e-05 ENSE00001712778_010 ENSE00001712778 010 2 28829309 28829478 + 54 72 44 A C 28829378 775 70 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCGTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606510 28606511 28606511 exon 16 0.2222222 ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGACGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 19 74 1 1 1 0.849285 0.85 0.8602962 0.8452659 NA NA 0.1397038 0.1547341 0.8496425 0.852781 NA 0.147219 NA FALSE NA 0.795 1.254 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 43/58 rs374928563 1 tolerated(0.99) benign(0.001) NA C:0 C:0.0001 AAG A,C 8.236e-06 2:28606511 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 missense_variant 0.713491 0.92406 0.66035 0.553676 0.09711797 0 1.993153e-56 FALSE 2.03133e-05 ENSE00001712778_012 ENSE00001712778 012 2 28829309 28829478 + 54 72 44 A C 28829390 777 82 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGGCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606522 28606523 28606523 exon 28 0.3888889 ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGCCCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 250 110 0.8 0.995662 0.897831 0.849285 0.85 0.8602962 0.8452659 NA NA -0.06029617 0.1503961 0.8496425 0.852781 NA 0.04504997 NA FALSE NA 0.006 0.537 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28606523 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 missense_variant -0.492379 0.23341 0.06002 0.554377 0.391134 0 1.993153e-56 FALSE 4.06286e-06 ENSE00001712778_014 ENSE00001712778 014 2 28829309 28829478 + 54 72 44 A C 28829409 779 101 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGGCATCGCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606541 28606542 28606542 exon -26 0.6527778 ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGCGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 146 354 0.9954855 1 0.9977427 0.849285 0.85 0.8602962 0.8452659 NA NA 0.1351893 0.1547341 0.8496425 0.852781 NA 0.1449617 NA FALSE NA 0 -0.884 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 43/58 1 tolerated(0.25) benign(0.001) NA GAG A,C 4.118e-05 2:28606542 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 missense_variant -0.911727 0.21061 0.03917 0.554377 0.4817459 0 1.993153e-56 FALSE 6.09652e-05 ENSE00001712778_015 ENSE00001712778 015 2 28829309 28829478 + 54 72 44 C A 28829414 780 106 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTACCTGAGTGGGACAGGTGATGGTCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606546 28606547 28606547 exon -21 0.7222222 ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGACCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 152 352 0.9997289 1 0.9998645 0.849285 0.85 0.8602962 0.8452659 NA NA 0.1394328 0.1547341 0.8496425 0.852781 NA 0.1470834 NA FALSE NA 0 -1.81 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 43/58 1 tolerated(0.59) benign(0.004) NA GCC C,A 1.647e-05 2:28606547 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 missense_variant -1.667166 0.15521 0.0288 0.554377 0.1467601 0 1.993153e-56 FALSE 1.21953e-05 ENSE00001712778_021 ENSE00001712778 021 2 28829309 28829478 + 54 72 44 G A 28829443 786 135 GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCTCCTACTACCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGCTGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 28606575 28606576 28606576 downstr_intron 9 1.209302 ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGAGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC mutant NA NA NA NA NA 576 149 0.9188829 0.8 0.8594415 0.849285 0.85 0.8602962 0.8452659 NA NA 0.05858674 -0.04526592 0.8496425 0.852781 NA 0.006660413 NA FALSE NA 0.002 0.645 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 43/57 1 NA GGG G,A 1.647e-05 2:28606576 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003611457 intron_variant 0.22012 0.20567 0.03953 0.053691 0.4064854 0.138041 1.993153e-56 FALSE 1.22061e-05 ENSE00001712778_BRK ENSE00001712778 BRK 2 28829309 28829478 + 54 72 44 A,G; T,T NA NA NA GCCCTGGTTTGTGGAGAGGAGCCAGGCAGGTCCTCCCCTACTGGCTGAGTGGGACAGGTGATGGGCATCTCTGCTCTCAGGTCCAGGGTCTCTGTTTTGCTTCCAAGTGGTTCAAGAAGATCAGGGAAGAAAAGAGAGACACGGGTGTAGTAGTTTGTTTCCATGGAAGT 28606441 28606611 NA NA NA NA NA NA ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCTTCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGCCAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC ACTTCCATGGAAACAAACTACTACACCCGTGTCTCTCTTTTCTTCCCTGATCAGCTTGAACCACTTGGAAGCAAAACAGAGACCCTGGACCTGAGAGCAGAGATGCCCATCACCTGTCCCACTCAGGTAGTAGGGGAGGACCTGCCTGGCTCCTCTCCACAAACCAGGGC control NA NA NA NA NA 195 156 0 0 0 0.849285 0.85 0.8602962 0.8452659 NA NA -0.8602962 -0.8452659 0.8496425 0.852781 NA -0.852781 NA TRUE NA NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003611457 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001712948_000 ENSE00001712948 000 6 31616412 31616581 - 42 75 53 NA NA NA NA NA AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT 31648634 31648804 NA NA NA NA NA NA AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT natural 878 990 0.8386804 0.8445663 0.8416233 838 349 0.8312405 0.8263042 0.8287724 0.8386804 0.8445663 0.8312405 0.8263042 0 0 0 0 0.8416233 0.8287724 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BAG6 NA NA NA ENSG00000204463 ENSE00001712948 NA NA NA NA NA NA NA 0.9999879 TRUE NA ENSE00001712948_005 ENSE00001712948 005 6 31616412 31616581 - 42 75 53 C A 31616461 658 121 AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCTGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT 31648634 31648804 31648683 31648684 31648684 exon -8 0.9066667 AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCTGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT mutant NA NA NA NA NA 32 55 0 0 0 0.8386804 0.8445663 0.8312405 0.8263042 NA NA -0.8312405 -0.8263042 0.8416233 0.8287724 NA -0.8287724 NA TRUE NA 1 6.261 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:31648684 BAG6 HGNC Symbol protein_coding 13677 ENSG00000204463 ENSE00001712948 missense_variant 6.12953 0.9923 0.98765 0.706548 0.9982213 0 0.9999879 TRUE 1.21989e-05 ENSE00001712948_011 ENSE00001712948 011 6 31616412 31616581 - 42 75 53 C G 31616475 664 107 AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACACACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT 31648634 31648804 31648697 31648698 31648698 exon -22 0.72 AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACACACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT mutant NA NA NA NA NA 950 270 0.7977568 0.8 0.7988784 0.8386804 0.8445663 0.8312405 0.8263042 NA NA -0.03348375 -0.02630418 0.8416233 0.8287724 NA -0.02989397 NA FALSE NA 0.983 0.135 NA NA NA BAG6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:31648698 BAG6 HGNC Symbol protein_coding 13677 ENSG00000204463 ENSE00001712948 missense_variant 1.515325 0.96823 0.80413 0.706548 0.9865187 0 0.9999879 TRUE 4.06336e-06 ENSE00001712948_016 ENSE00001712948 016 6 31616412 31616581 - 42 75 53 C A 31616502 669 80 AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATTGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT 31648634 31648804 31648724 31648725 31648725 exon 27 0.36 AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATTGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT mutant NA NA NA NA NA 37 14 0.946219 0.9388996 0.9425593 0.8386804 0.8445663 0.8312405 0.8263042 NA NA 0.1149785 0.1125954 0.8416233 0.8287724 NA 0.1137869 NA FALSE NA 1 3.601 . missense_variant MODERATE BAG6 HGNC 13919 ENST00000375976 6/25 1 deleterious(0.03) possibly_damaging(0.827) NA CCA C,A 2.471e-05 6:31648725 BAG6 HGNC Symbol protein_coding 13677 ENSG00000204463 ENSE00001712948 missense_variant 4.843207 0.99233 0.97157 0.706548 0.995106 0 0.9999879 TRUE NA ENSE00001712948_024 ENSE00001712948 024 6 31616412 31616581 - 42 75 53 G A 31616538 677 44 AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTTTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT 31648634 31648804 31648760 31648761 31648761 upstr_intron -10 -0.1698113 AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTTTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT mutant NA NA NA NA NA 80 180 0.9657734 0.9430858 0.9544296 0.8386804 0.8445663 0.8312405 0.8263042 NA NA 0.1345329 0.1167816 0.8416233 0.8287724 NA 0.1256572 NA FALSE NA 0 -0.486 . intron_variant MODIFIER BAG6 HGNC 13919 ENST00000375976 5/24 rs367692737 1 NA C:0 C:0.0001 AGA G,A 8.236e-06 6:31648761 BAG6 HGNC Symbol protein_coding 13677 ENSG00000204463 ENSE00001712948 intron_variant 0.497339 0.15876 0.04072 0.099367 0.6738046 0.0511232 0.9999879 TRUE NA ENSE00001712948_027 ENSE00001712948 027 6 31616412 31616581 - 42 75 53 G C 31616558 680 24 AGAACTCATGGCTTCATCTGTAAGCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT 31648634 31648804 31648780 31648781 31648781 upstr_intron -30 -0.5471698 AGAACTCATGGCTTCATCTGTAAGCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT AGAACTCATGGCTTCATCTGTAACCTACCCTGATAAACCTTCTCTCATTGTAGAGTGAGCCCCGGGTACGGCTGGTGATGGCTCAGCACATGATCAGGGATATACAGACCTTACTATCCCGGATGGAGGTAAGTGGGCAAGGCTGGCTAGGGTCTCTCTCCACCCTCCCT mutant NA NA NA NA NA 245 34 0.8 0.8 0.8 0.8386804 0.8445663 0.8312405 0.8263042 NA NA -0.03124052 -0.02630418 0.8416233 0.8287724 NA -0.02877235 NA FALSE NA 0 0.101 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:31648781 BAG6 HGNC Symbol protein_coding 13677 ENSG00000204463 ENSE00001712948 intron_variant -0.411142 0.20511 0.15943 0.099367 0.5664526 0.0510867 0.9999879 TRUE 0.000220236 ENSE00001712974_000 ENSE00001712974 000 13 20237133 20237302 + 47 87 36 NA NA NA NA NA TTTTAAATAATTTGGGAAATTAAATTTGCCTTTTTTTCTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTGGAAGCAGGAGCTTTTGTAAATGTCCAGCAAAGCAATGGTGAGACTGCACTGATGAAGGTAAATCCCTCCTGCAGGTCATCCCTTTCTTCACTA 19662992 19663162 NA NA NA NA NA NA TTTTAAATAATTTGGGAAATTAAATTTGCCTTTTTTTCTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTGGAAGCAGGAGCTTTTGTAAATGTCCAGCAAAGCAATGGTGAGACTGCACTGATGAAGGTAAATCCCTCCTGCAGGTCATCCCTTTCTTCACTA TTTTAAATAATTTGGGAAATTAAATTTGCCTTTTTTTCTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTGGAAGCAGGAGCTTTTGTAAATGTCCAGCAAAGCAATGGTGAGACTGCACTGATGAAGGTAAATCCCTCCTGCAGGTCATCCCTTTCTTCACTA natural NA NA NA NA NA 444 213 0.9593039 0.9718242 0.965564 NA NA 0.9593039 0.9718242 NA NA 0 0 NA 0.965564 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001712974 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001712974_BRK ENSE00001712974 BRK 13 20237133 20237302 + 47 87 36 A,G; T,T NA NA NA TTTTAAATAATTTGGGAAATTAAATTTGCCTTTTTTTCTTTTCATTTAACTTTTTAACAACAGTGGCTATTCTTTTGGAAGCAGGAGCTTTTGTAAATGTCCAGCAAAGCAATGGTGAGACTGCACTGATGAAGCCAAATCCCTCCTGCAGGTCATCCCTTTCTTCACTA 19662992 19663162 NA NA NA NA NA NA TTTTAAATAATTTGGGAAATTAAATTTGCCTTTTTTTCTTTTCATTTAACTTTTTAACAACAGTGGCTATTCTTTTGGAAGCAGGAGCTTTTGTAAATGTCCAGCAAAGCAATGGTGAGACTGCACTGATGAAGCCAAATCCCTCCTGCAGGTCATCCCTTTCTTCACTA TTTTAAATAATTTGGGAAATTAAATTTGCCTTTTTTTCTTTTCATAGAACTTTTTAACAACAGTGGCTATTCTTTTGGAAGCAGGAGCTTTTGTAAATGTCCAGCAAAGCAATGGTGAGACTGCACTGATGAAGGTAAATCCCTCCTGCAGGTCATCCCTTTCTTCACTA control NA NA NA NA NA 31 2121 0.01257892 0 0.006289459 NA NA 0.9593039 0.9718242 NA NA -0.9467249 -0.9718242 NA 0.965564 NA -0.9592746 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001712974 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001715097_000 ENSE00001715097 000 11 11989909 11990078 - 33 93 44 NA NA NA NA NA CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 NA NA NA NA NA NA CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC natural NA NA NA NA NA 238 2029 0.9914469 0.9710371 0.981242 NA NA 0.9914469 0.9710371 NA NA 0 0 NA 0.981242 NA 0 NA FALSE NA NA NA NA NA NA DKK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DKK3 NA NA NA ENSG00000050165 ENSE00003479992 NA NA NA NA NA NA NA 1.888889e-05 FALSE NA ENSE00001715097_002 ENSE00001715097 002 11 11989909 11990078 - 33 93 44 T C 11989935 409 144 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTGTGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968387 11968388 11968388 downstr_intron 7 1.21875 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTGTGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 12 210 1 0.9144933 0.9572467 NA NA 0.9914469 0.9710371 NA NA 0.008553136 -0.05654381 NA 0.981242 NA -0.02399534 NA FALSE NA 0.84 0.578 . splice_region_variant&intron_variant LOW DKK3 HGNC 2893 ENST00000396505 5/7 1 NA ATA T,C 3.295e-05 11:11968388 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 splice_region_variant 0.107713 0.3313 0.21626 0.099367 0.5239039 0.159528 1.888889e-05 FALSE 3.69874e-05 ENSE00001715097_003 ENSE00001715097 003 11 11989909 11990078 - 33 93 44 C T 11989939 410 140 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTAAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968391 11968392 11968392 downstr_intron 3 1.09375 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTAAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 104 122 0.9905282 1 0.9952641 NA NA 0.9914469 0.9710371 NA NA -0.0009186948 0.02896288 NA 0.981242 NA 0.01402209 NA FALSE NA 0.999 0.35 . splice_region_variant&intron_variant LOW DKK3 HGNC 2893 ENST00000396505 5/7 rs201441906 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCA C,T 8.236e-06 11:11968392 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 splice_region_variant 0.887035 0.90527 0.51976 0.099367 0.5250368 0.231446 1.888889e-05 FALSE 4.10408e-06 ENSE00001715097_006 ENSE00001715097 006 11 11989909 11990078 - 33 93 44 G A 11989956 413 123 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCTGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968408 11968409 11968409 exon -15 0.8494624 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCTGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 13 113 1 1 1 NA NA 0.9914469 0.9710371 NA NA 0.008553136 0.02896288 NA 0.981242 NA 0.01875801 NA FALSE NA 1 2.416 . missense_variant MODERATE DKK3 HGNC 2893 ENST00000396505 5/8 rs377759604&COSM180945 1 deleterious(0.02) benign(0.035) NA A:0 A:0.0001 CGG G,A 3.295e-05 11:11968409 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 missense_variant 5.072453 0.90955 0.75723 0.706548 0.9989561 0 1.888889e-05 FALSE 2.86242e-05 ENSE00001715097_009 ENSE00001715097 009 11 11989909 11990078 - 33 93 44 G A 11989969 416 110 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACTTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968421 11968422 11968422 exon -28 0.7096774 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACTTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 599 227 0.997947 0.9913204 0.9946337 NA NA 0.9914469 0.9710371 NA NA 0.006500148 0.02028331 NA 0.981242 NA 0.01339173 NA FALSE NA 1 0.647 . synonymous_variant LOW DKK3 HGNC 2893 ENST00000396505 5/8 1 NA AGG G,A 8.236e-06 11:11968422 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 synonymous_variant 1.275219 0.91835 0.7763 0.706548 0.6652067 0 1.888889e-05 FALSE 4.0781e-06 ENSE00001715097_011 ENSE00001715097 011 11 11989909 11990078 - 33 93 44 T G 11989973 418 106 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTCCACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968425 11968426 11968426 exon -32 0.6666667 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTCCACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 1836 376 0.9544122 1 0.9772061 NA NA 0.9914469 0.9710371 NA NA -0.03703471 0.02896288 NA 0.981242 NA -0.004035914 NA FALSE NA 1 2.565 . missense_variant MODERATE DKK3 HGNC 2893 ENST00000396505 5/8 1 tolerated(0.57) possibly_damaging(0.85) NA GTA T,G 8.236e-06 11:11968426 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 missense_variant 3.435363 0.96441 0.92047 0.706548 0.9892029 0 1.888889e-05 FALSE 4.07824e-06 ENSE00001715097_012 ENSE00001715097 012 11 11989909 11990078 - 33 93 44 G T 11990002 419 77 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGAATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968454 11968455 11968455 exon 33 0.3548387 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGAATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 304 42 0.9972066 0.9539596 0.9755831 NA NA 0.9914469 0.9710371 NA NA 0.005759719 -0.0170775 NA 0.981242 NA -0.005658891 NA FALSE NA 0.001 0.185 . missense_variant MODERATE DKK3 HGNC 2893 ENST00000396505 5/8 1 tolerated(0.1) benign(0.012) NA TGC G,T 8.236e-05 11:11968455 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 missense_variant 1.197987 0.28847 0.14102 0.706298 0.9861665 0 1.888889e-05 FALSE 4.07651e-05 ENSE00001715097_013 ENSE00001715097 013 11 11989909 11990078 - 33 93 44 G A 11990005 420 74 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCTAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968457 11968458 11968458 exon 30 0.3225806 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCTAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 146 82 1 1 1 NA NA 0.9914469 0.9710371 NA NA 0.008553136 0.02896288 NA 0.981242 NA 0.01875801 NA FALSE NA 0 -1.156 . synonymous_variant LOW DKK3 HGNC 2893 ENST00000396505 5/8 1 NA TGG G,A 8.236e-06 11:11968458 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 synonymous_variant -0.119569 0.22474 0.11244 0.706298 0.4059916 0 1.888889e-05 FALSE 8.15641e-06 ENSE00001715097_017 ENSE00001715097 017 11 11989909 11990078 - 33 93 44 T C 11990025 424 54 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCGTCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968477 11968478 11968478 exon 10 0.1075269 CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCGTCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 114 246 1 1 1 NA NA 0.9914469 0.9710371 NA NA 0.008553136 0.02896288 NA 0.981242 NA 0.01875801 NA FALSE NA 1 1.736 . missense_variant MODERATE DKK3 HGNC 2893 ENST00000396505 5/8 1 tolerated(0.2) possibly_damaging(0.773) NA ATG T,C 8.236e-06 11:11968478 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 missense_variant 2.776565 0.93155 0.83761 0.706298 0.9883695 0 1.888889e-05 FALSE 8.16567e-06 ENSE00001715097_019 ENSE00001715097 019 11 11989909 11990078 - 33 93 44 G T 11990051 426 28 CTCTGCTCTCCATTGACACATCTGCTCACTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 11968503 11968504 11968504 upstr_intron -17 -0.3636364 CTCTGCTCTCCATTGACACATCTGCTCACTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC mutant NA NA NA NA NA 668 61 1 0.9973984 0.9986992 NA NA 0.9914469 0.9710371 NA NA 0.008553136 0.02636131 NA 0.981242 NA 0.01745722 NA FALSE NA 0 -0.969 rs59016281 intron_variant MODIFIER DKK3 HGNC 2893 ENST00000396505 4/7 rs59016281 1 T:0.0066 T:0.0219 T:0.0058 NA T:0 T:0 T:0 T:0.02 T:0 GGG G,T 0.001878 11:11968504 DKK3 HGNC Symbol protein_coding 46663 ENSG00000050165 ENSE00003479992 non_coding_transcript_exon_variant -0.318987 0.25077 0.22349 0.062308 0.4977254 0.110829 1.888889e-05 FALSE 0.00139341 ENSE00001715097_BRK ENSE00001715097 BRK 11 11989909 11990078 - 33 93 44 A,G; T,T NA NA NA CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCTTGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGCCGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC 11968361 11968531 NA NA NA NA NA NA CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCTTGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGCCGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC CTCTGCTCTCCATTGACACATCTGCTCCCTGTGCCCTTCCCCAGGAGTGCATCATCGACGAGGACTGTGGGCCCAGCATGTACTGCCAGTTTGCCAGCTTCCAGTACACCTGCCAGCCATGCCGGGGCCAGAGGATGGTGAGTATGCCAGGGCCTCTGGGGCTGTGGCAC control NA NA NA NA NA 215 146 0.001398451 0 0.0006992253 NA NA 0.9914469 0.9710371 NA NA -0.9900484 -0.9710371 NA 0.981242 NA -0.9805428 NA TRUE NA NA NA NA NA NA DKK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DKK3 NA NA NA ENSG00000050165 ENSE00003479992 NA NA NA NA NA NA NA 1.888889e-05 FALSE NA ENSE00001716055_000 ENSE00001716055 000 12 48388154 48388323 - 53 54 63 NA NA NA NA NA GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGCCTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG 47994370 47994540 NA NA NA NA NA NA GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGCCTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGCCTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG natural 49 96 0.7919657 0.7162381 0.7541019 1781 830 0.8241985 0.6608828 0.7425406 0.7919657 0.7162381 0.8241985 0.6608828 0 0 0 0 0.7541019 0.7425406 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001716055 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001716055_009 ENSE00001716055 009 12 48388154 48388323 - 53 54 63 G T 48388186 1314 138 GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGACTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG 47994370 47994540 47994402 47994403 47994403 downstr_intron 21 1.403846 GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGACTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGCCTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG mutant 67 112 0.85 0.85 0.85 NA NA NA NA NA 0.7919657 0.7162381 0.8241985 0.6608828 0.05803427 0.1337619 NA NA 0.7541019 0.7425406 0.09589808 NA NA NA FALSE 0 0.347 . intron_variant MODIFIER COL2A1 HGNC 2200 ENST00000380518 12/53 1 NA GGC G,T 8.236e-06 12:47994403 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001716055 intron_variant -0.002347 0.27121 0.06491 0.06567 0.7240727 0.103417 1 TRUE 8.1363e-06 ENSE00001716055_017 ENSE00001716055 017 12 48388154 48388323 - 53 54 63 A G 48388222 1322 102 GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGCCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGCCTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG 47994370 47994540 47994438 47994439 47994439 exon -16 0.7222222 GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGCCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGCCTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG GGGTGCCCCCACTATGCTACTGCGTCTCTGAGGAAGCTGGGATATCTCTCTCTCTCCCTTCAGGGTGAAGCTGGAAAACCTGGAAAAGCTGGTGAAAGGGGTCCGCCTGGTCCTCAGGTAAACGCCACCGTTCCCAGCCTCAGGCATCTTTCCTAGCGTCTCCCTCCCTG mutant 20 30 0 0 0 NA NA NA NA NA 0.7919657 0.7162381 0.8241985 0.6608828 -0.7919657 -0.7162381 NA NA 0.7541019 0.7425406 -0.7541019 NA NA NA TRUE 0.985 0.079 . synonymous_variant LOW COL2A1 HGNC 2200 ENST00000380518 12/54 1 NA GAC A,G 8.236e-06 12:47994439 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001716055 synonymous_variant 0.492667 0.96304 0.34309 0.648238 0.7495718 0 1 TRUE 4.06345e-06 ENSE00001716482_000 ENSE00001716482 000 12 48378748 48378917 - 30 99 41 NA NA NA NA NA TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 NA NA NA NA NA NA TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT natural 54 34 0.9998472 0.9986666 0.9992569 9183 6570 0.9444074 0.8829269 0.9136671 0.9998472 0.9986666 0.9444074 0.8829269 0 0 0 0 0.9992569 0.9136671 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003549194 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001716482_001 ENSE00001716482 001 12 48378748 48378917 - 30 99 41 G C 48378760 1153 158 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTGTTCTATTTCCTT 47984964 47985134 47984976 47984977 47984977 downstr_intron 18 1.62069 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTGTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant 19 50 0.99716 0.9839891 0.9905745 861 1700 0.8857524 1 0.9428762 0.9998472 0.9986666 0.9444074 0.8829269 -0.002687205 -0.01467756 -0.05865503 0.1170731 0.9992569 0.9136671 -0.008682383 0.02920905 0.03789144 FALSE FALSE 0.021 0.389 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs374668610 1 NA C:0.0002 C:0 AGA G,C 7.414e-05 12:47984977 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 intron_variant -0.294822 0.23458 0.17315 0.053691 0.4686974 0.102268 1 TRUE 3.71987e-05 ENSE00001716482_002 ENSE00001716482 002 12 48378748 48378917 - 30 99 41 G A 48378778 1154 140 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAATGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47984994 47984995 47984995 exon -1 1 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAATGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 1820 2347 0.9802499 0.9206455 0.9504477 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.03584243 0.03771866 0.9992569 0.9136671 NA 0.03678055 NA FALSE NA 0.007 -0.075 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs545120998&COSM939756&COSM939755 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGT G,A 4.942e-05 12:47984995 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 splice_region_variant 1.370947 0.95595 0.06887 0.615465 0.8772446 0 1 TRUE 2.85691e-05 ENSE00001716482_003 ENSE00001716482 003 12 48378748 48378917 - 30 99 41 G A 48378781 1155 137 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCTAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47984997 47984998 47984998 exon -4 0.969697 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCTAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant 16 49 0.9952895 0.9983781 0.9968338 NA NA NA NA NA 0.9998472 0.9986666 0.9444074 0.8829269 -0.004557747 -0.0002885195 NA NA 0.9992569 0.9136671 -0.002423133 NA NA NA FALSE 0.118 -0.27 rs151332549 upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs151332549 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0 A:0.0001 TGG G,A 2.471e-05 12:47984998 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 synonymous_variant 1.140116 0.97916 0.40038 0.615465 0.8072422 0 1 TRUE 1.22348e-05 ENSE00001716482_004 ENSE00001716482 004 12 48378748 48378917 - 30 99 41 C G 48378785 1156 133 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGCTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985001 47985002 47985002 exon -8 0.9292929 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGCTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 1200 600 0.9979866 0.9995548 0.9987707 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.05357919 0.1166279 0.9992569 0.9136671 NA 0.08510355 NA FALSE NA 1 5.825 rs140580674 upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs140580674 1 NA G:0.0002 G:0 ACC C,G 8.237e-06 12:47985002 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 missense_variant 6.053816 0.99427 0.98954 0.615465 0.9986652 0 1 TRUE NA ENSE00001716482_005 ENSE00001716482 005 12 48378748 48378917 - 30 99 41 G A 48378792 1157 126 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCTCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985008 47985009 47985009 exon -15 0.8585859 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCTCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 718 561 0.9890494 0.9988293 0.9939393 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.04464195 0.1159024 0.9992569 0.9136671 NA 0.08027219 NA FALSE NA 1 7.742 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GGG G,A 8.237e-06 12:47985009 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 missense_variant 4.936664 0.99413 0.99335 0.615465 0.9991217 0 1 TRUE NA ENSE00001716482_006 ENSE00001716482 006 12 48378748 48378917 - 30 99 41 G A 48378816 1158 102 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGTCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985032 47985033 47985033 exon -39 0.6161616 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGTCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 2168 1014 0.9992191 1 0.9996096 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.0548117 0.1170731 0.9992569 0.9136671 NA 0.08594242 NA FALSE NA 1 4.616 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs367600621 1 NA A:0 A:0.0001 GGC G,A 8.237e-06 12:47985033 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 missense_variant 4.893546 0.99425 0.98277 0.615465 0.9989911 0 1 TRUE 8.13795e-06 ENSE00001716482_008 ENSE00001716482 008 12 48378748 48378917 - 30 99 41 A C 48378844 1160 74 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCGCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985060 47985061 47985061 exon 33 0.3333333 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCGCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 138 3170 0.8081429 0.9986175 0.9033802 0.9998472 0.9986666 0.9444074 0.8829269 NA NA -0.1362646 0.1156906 0.9992569 0.9136671 NA -0.01028696 NA FALSE NA 0.122 -0.253 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GAG A,C 8.238e-06 12:47985061 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 synonymous_variant 0.280245 0.96593 0.63487 0.615465 0.775483 0 1 TRUE 8.1475e-06 ENSE00001716482_009 ENSE00001716482 009 12 48378748 48378917 - 30 99 41 G C 48378851 1161 67 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCGTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985067 47985068 47985068 exon 26 0.2626263 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCGTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 339 609 1 0.9997402 0.9998701 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.05559258 0.1168134 0.9992569 0.9136671 NA 0.08620297 NA FALSE NA 1 7.73 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA AGG G,C 8.238e-06 12:47985068 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 missense_variant 5.805264 0.99432 0.99457 0.615465 0.9987463 0 1 TRUE NA ENSE00001716482_010 ENSE00001716482 010 12 48378748 48378917 - 30 99 41 G A 48378852 1162 66 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTTCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985068 47985069 47985069 exon 25 0.2525253 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTTCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 1834 268 0.9972977 0.9849604 0.9911291 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.05289031 0.1020336 0.9992569 0.9136671 NA 0.07746195 NA FALSE NA 1 7.682 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GGA G,A 1.648e-05 12:47985069 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 missense_variant 4.677193 0.99409 0.99369 0.615465 0.9984401 0 1 TRUE NA ENSE00001716482_011 ENSE00001716482 011 12 48378748 48378917 - 30 99 41 C G 48378854 1163 64 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCCTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985070 47985071 47985071 exon 23 0.2323232 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCCTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 978 972 0.8007219 0.9756473 0.8881846 0.9998472 0.9986666 0.9444074 0.8829269 NA NA -0.1436855 0.09272041 0.9992569 0.9136671 NA -0.02548255 NA FALSE NA 1 4.71 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47985071 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 missense_variant 7.278082 0.99424 0.97056 0.615465 0.9972807 0 1 TRUE 4.08023e-06 ENSE00001716482_012 ENSE00001716482 012 12 48378748 48378917 - 30 99 41 C T 48378854 1164 64 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCATCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985070 47985071 47985071 exon 23 0.2323232 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCATCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 1722 736 0.871355 0.9839461 0.9276506 0.9998472 0.9986666 0.9444074 0.8829269 NA NA -0.07305238 0.1010192 0.9992569 0.9136671 NA 0.01398341 NA FALSE NA 1 4.71 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003549194 missense_variant 7.689521 0.99394 0.98451 0.615465 0.9993556 0 1 TRUE 1.63209e-05 ENSE00001716482_013 ENSE00001716482 013 12 48378748 48378917 - 30 99 41 G A 48378855 1165 63 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTTGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985071 47985072 47985072 exon 22 0.2222222 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTTGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 847 2957 0.9975891 0.9970983 0.9973437 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.05318164 0.1141715 0.9992569 0.9136671 NA 0.08367656 NA FALSE NA 1 5.289 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CGA G,A 8.238e-06 12:47985072 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 missense_variant 7.667747 0.99409 0.96247 0.615465 0.9992252 0 1 TRUE 4.08053e-06 ENSE00001716482_014 ENSE00001716482 014 12 48378748 48378917 - 30 99 41 A G 48378868 1166 50 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCCGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985084 47985085 47985085 exon 9 0.09090909 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCCGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 1177 4076 0.8832545 0.9843593 0.9338069 0.9998472 0.9986666 0.9444074 0.8829269 NA NA -0.06115292 0.1014324 0.9992569 0.9136671 NA 0.02013974 NA FALSE NA 0.999 0.819 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CAG A,G 8.238e-06 12:47985085 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 synonymous_variant 0.403802 0.98271 0.87874 0.615465 0.818291 0 1 TRUE 1.63846e-05 ENSE00001716482_015 ENSE00001716482 015 12 48378748 48378917 - 30 99 41 C A 48378873 1167 45 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGATCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985089 47985090 47985090 exon 4 0.04040404 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGATCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant 25 18 0.9829578 0.9939361 0.9884469 1204 1431 0.9904549 0.9340373 0.9622461 0.9998472 0.9986666 0.9444074 0.8829269 -0.01688946 -0.004730562 0.04604744 0.05111042 0.9992569 0.9136671 -0.01081001 0.04857893 0.05938894 FALSE FALSE 0.002 1.204 rs146604807 upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs146604807 1 NA A:0 A:0.0001 GCT C,A 4.943e-05 12:47985090 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 missense_variant 2.311734 0.98355 0.89678 0.615465 0.9821012 0 1 TRUE 4.93239e-05 ENSE00001716482_016 ENSE00001716482 016 12 48378748 48378917 - 30 99 41 G C 48378883 1168 35 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTGTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985099 47985100 47985100 upstr_intron -7 -0.1463415 TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTGTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 1049 3354 0.982895 0.9998847 0.9913899 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.03848762 0.1169578 0.9992569 0.9136671 NA 0.07772273 NA FALSE NA 0.002 1.073 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA AGA G,C 8.239e-06 12:47985100 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 splice_region_variant 1.080206 0.97967 0.65405 0.053691 0.7500625 0.856941 1 TRUE 4.14168e-06 ENSE00001716482_017 ENSE00001716482 017 12 48378748 48378917 - 30 99 41 A G 48378900 1169 18 TCAGAGTGTCTATGTTCCGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985116 47985117 47985117 upstr_intron -24 -0.5609756 TCAGAGTGTCTATGTTCCGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 2409 3291 0.9928511 0.9965179 0.9946845 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.04844365 0.1135911 0.9992569 0.9136671 NA 0.08101736 NA FALSE NA 0.617 2.091 rs41317933 upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs41317933 1 G:0.0224 G:0.0159 G:0.0173 NA G:0 G:0.0706 G:0.0082 G:0.0261 G:0.0636 CAG A,G 0.047 12:47985117 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 intron_variant 0.888593 0.97584 0.75552 0.053691 0.7582338 0.622177 1 TRUE 0.0484417 ENSE00001716482_018 ENSE00001716482 018 12 48378748 48378917 - 30 99 41 G A 48378901 1170 17 TCAGAGTGTCTATGTTTTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 47985117 47985118 47985118 upstr_intron -25 -0.5853659 TCAGAGTGTCTATGTTTTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT mutant NA NA NA NA NA 977 1137 1 0.8949909 0.9474955 0.9998472 0.9986666 0.9444074 0.8829269 NA NA 0.05559258 0.01206406 0.9992569 0.9136671 NA 0.03382832 NA FALSE NA 0.219 0.675 . upstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA AGA G,A 8.243e-06 12:47985118 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003549194 intron_variant 0.231719 0.26421 0.08647 0.053691 0.5426562 0.105716 1 TRUE 8.57604e-06 ENSE00001716482_BRK ENSE00001716482 BRK 12 48378748 48378917 - 30 99 41 A,G; T,T NA NA NA TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCTTGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACCCAAGTAATAATTTGCTCTTCTATTTCCTT 47984964 47985134 NA NA NA NA NA NA TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCTTGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACCCAAGTAATAATTTGCTCTTCTATTTCCTT TCAGAGTGTCTATGTTCTGAGAATGGTGTTCTGTCTTTCAGGGAGCCCCTGGTGAAGATGGTCGTCCTGGACCTCCAGGTCCTCAGGGGGCTCGTGGGCAGCCTGGTGTCATGGGTTTCCCTGGCCCCAAAGGTGCCAACGTAAGTAATAATTTGCTCTTCTATTTCCTT control 17 47 0 0 0 NA NA NA NA NA 0.9998472 0.9986666 0.9444074 0.8829269 -0.9998472 -0.9986666 NA NA 0.9992569 0.9136671 -0.9992569 NA NA NA TRUE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003549194 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001716901_000 ENSE00001716901 000 16 3562341 3562510 + 42 96 32 NA NA NA NA NA CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 NA NA NA NA NA NA CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG natural 20 27 0.9876933 0.9784447 0.983069 575 592 0.9913135 0.9858482 0.9885808 0.9876933 0.9784447 0.9913135 0.9858482 0 0 0 0 0.983069 0.9885808 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003593408 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001716901_002 ENSE00001716901 002 16 3562341 3562510 + 42 96 32 C G 3562380 184 40 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCGAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512379 3512380 3512380 upstr_intron -3 -0.04761905 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCGAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 971 1534 0.9978966 1 0.9989483 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.006583146 0.01415179 0.983069 0.9885808 NA 0.01036747 NA FALSE NA 0.801 0.664 NA NA NA LA16c-306E5.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC004224.2 NA NA NA ENSG00000263212 ENSE00003593408 splice_region_variant 0.197954 0.95746 0.85763 0.106106 0.5037953 0.290527 NA NA 4.06095e-06 ENSE00001716901_BRK ENSE00001716901 BRK 16 3562341 3562510 + 42 96 32 A,G; T,T NA NA NA CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCTTATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGCCAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 NA NA NA NA NA NA CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCTTATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGCCAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG control NA NA NA NA NA 174 481 0.05577804 0.05989226 0.05783515 0.9876933 0.9784447 0.9913135 0.9858482 NA NA -0.9355354 -0.9259559 0.983069 0.9885808 NA -0.9307457 NA TRUE NA NA NA NA NA NA LA16c-306E5.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC004224.2 NA NA NA ENSG00000263212 ENSE00003593408 NA NA NA NA NA NA NA NA NA NA ENSE00001717226_000 ENSE00001717226 000 2 28851373 28851542 + 57 66 47 NA NA NA NA NA GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 NA NA NA NA NA NA GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG natural 22 48 0.9876567 0.9913149 0.9894858 2048 2638 0.9903741 0.9868617 0.9886179 0.9876567 0.9913149 0.9903741 0.9868617 0 0 0 0 0.9894858 0.9886179 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003480710 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001717226_002 ENSE00001717226 002 2 28851373 28851542 + 57 66 47 C T 28851388 819 16 GCCATTCTCTCAGAGTGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628520 28628521 28628521 upstr_intron -42 -0.7192982 GCCATTCTCTCAGAGTGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 195 403 1 0.9944246 0.9972123 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.009625868 0.007562854 0.9894858 0.9886179 NA 0.008594361 NA FALSE NA 0 -0.977 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28628521 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant -0.121421 0.07119 3e-04 0.053691 0.4245132 0.0634627 1.993153e-56 FALSE 6.09607e-05 ENSE00001717226_003 ENSE00001717226 003 2 28851373 28851542 + 57 66 47 C A 28851388 820 16 GCCATTCTCTCAGAGAGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628520 28628521 28628521 upstr_intron -42 -0.7192982 GCCATTCTCTCAGAGAGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 1339 1411 0.9981412 0.9988591 0.9985001 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.007767072 0.01199739 0.9894858 0.9886179 NA 0.009882231 NA FALSE NA 0 -0.977 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003480710 intron_variant 0.00427 0.14465 0.00999 0.053691 0.4844807 0.0634627 1.993153e-56 FALSE 1.21921e-05 ENSE00001717226_004 ENSE00001717226 004 2 28851373 28851542 + 57 66 47 G A 28851389 821 17 GCCATTCTCTCAGAGCAGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628521 28628522 28628522 upstr_intron -41 -0.7017544 GCCATTCTCTCAGAGCAGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 295 196 0.9980304 0.9782001 0.9881152 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.007656294 -0.008661631 0.9894858 0.9886179 NA -0.0005026684 NA FALSE NA 0 -1.16 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 3/5 rs200526043 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0.0001 CGG G,A 4.118e-05 2:28628522 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant -0.024682 0.12684 0.01538 0.053691 0.4254544 0.0634627 1.993153e-56 FALSE 4.06293e-05 ENSE00001717226_005 ENSE00001717226 005 2 28851373 28851542 + 57 66 47 C A 28851392 822 20 GCCATTCTCTCAGAGCGGGAACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628524 28628525 28628525 upstr_intron -38 -0.6491228 GCCATTCTCTCAGAGCGGGAACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 386 1164 0.985922 0.9903621 0.988142 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.004452159 0.003500428 0.9894858 0.9886179 NA -0.0004758656 NA FALSE NA 0 -0.903 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 3/5 1 NA GCA C,A 2.471e-05 2:28628525 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant -0.097726 0.06349 0.00054 0.053691 0.4960717 0.0634627 1.993153e-56 FALSE 3.24997e-05 ENSE00001717226_006 ENSE00001717226 006 2 28851373 28851542 + 57 66 47 A G 28851393 823 21 GCCATTCTCTCAGAGCGGGCGCCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628525 28628526 28628526 upstr_intron -37 -0.6315789 GCCATTCTCTCAGAGCGGGCGCCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 655 16 0.9903822 0.9899845 0.9901834 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 8.032455e-06 0.00312285 0.9894858 0.9886179 NA 0.001565441 NA FALSE NA 0 -2.295 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 3/5 1 NA CAC A,G 1.647e-05 2:28628526 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant 0.007203 0.10956 0.00541 0.053691 0.3236096 0.0634627 1.993153e-56 FALSE 8.12288e-06 ENSE00001717226_007 ENSE00001717226 007 2 28851373 28851542 + 57 66 47 C T 28851394 824 22 GCCATTCTCTCAGAGCGGGCATCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628526 28628527 28628527 upstr_intron -36 -0.6140351 GCCATTCTCTCAGAGCGGGCATCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 565 38 0.9950153 0.9958151 0.9954152 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.004641161 0.008953374 0.9894858 0.9886179 NA 0.006797267 NA FALSE NA 0.001 0.254 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 3/5 rs553739794 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 ACC C,T 3.295e-05 2:28628527 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant 0.305261 0.12636 0.04132 0.053691 0.597538 0.0634627 1.993153e-56 FALSE 3.24931e-05 ENSE00001717226_008 ENSE00001717226 008 2 28851373 28851542 + 57 66 47 A G 28851396 825 24 GCCATTCTCTCAGAGCGGGCACCGGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628528 28628529 28628529 upstr_intron -34 -0.5789474 GCCATTCTCTCAGAGCGGGCACCGGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 183 289 0.9871941 0.9795873 0.9833907 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.003180007 -0.007274391 0.9894858 0.9886179 NA -0.005227199 NA FALSE NA 0 -0.549 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28628529 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant 0.224982 0.20998 0.06336 0.053691 0.4588452 0.0635048 1.993153e-56 FALSE 1.21852e-05 ENSE00001717226_009 ENSE00001717226 009 2 28851373 28851542 + 57 66 47 A C 28851396 826 24 GCCATTCTCTCAGAGCGGGCACCCGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628528 28628529 28628529 upstr_intron -34 -0.5789474 GCCATTCTCTCAGAGCGGGCACCCGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 149 540 0.9974874 0.9795196 0.9885035 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.007113248 -0.007342071 0.9894858 0.9886179 NA -0.0001144115 NA FALSE NA 0 -0.549 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003480710 intron_variant 0.054091 0.2072 0.0636 0.053691 0.4782654 0.0635048 1.993153e-56 FALSE 4.06174e-06 ENSE00001717226_010 ENSE00001717226 010 2 28851373 28851542 + 57 66 47 G A 28851399 827 27 GCCATTCTCTCAGAGCGGGCACCAGGAGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628531 28628532 28628532 upstr_intron -31 -0.5263158 GCCATTCTCTCAGAGCGGGCACCAGGAGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 34 3542 1 0.9984048 0.9992024 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.009625868 0.01154306 0.9894858 0.9886179 NA 0.01058446 NA FALSE NA 0 -0.879 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28628532 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant 0.214386 0.12876 0.013 0.053691 0.7530898 0.0635048 1.993153e-56 FALSE 0.000487345 ENSE00001717226_011 ENSE00001717226 011 2 28851373 28851542 + 57 66 47 G C 28851399 828 27 GCCATTCTCTCAGAGCGGGCACCAGGCGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628531 28628532 28628532 upstr_intron -31 -0.5263158 GCCATTCTCTCAGAGCGGGCACCAGGCGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 1030 431 0.9944045 0.9996329 0.9970187 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.004030347 0.01277118 0.9894858 0.9886179 NA 0.008400765 NA FALSE NA 0 -0.879 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003480710 intron_variant -0.099767 0.1669 0.05143 0.053691 0.6422988 0.0635048 1.993153e-56 FALSE 4.06121e-06 ENSE00001717226_012 ENSE00001717226 012 2 28851373 28851542 + 57 66 47 G T 28851400 829 28 GCCATTCTCTCAGAGCGGGCACCAGGGTCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628532 28628533 28628533 upstr_intron -30 -0.5087719 GCCATTCTCTCAGAGCGGGCACCAGGGTCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 922 608 0.999508 0.997191 0.9983495 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.009133847 0.01032935 0.9894858 0.9886179 NA 0.009731597 NA FALSE NA 0 -0.354 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 3/5 1 NA GGC G,T 8.236e-06 2:28628533 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant 0.057095 0.14946 0.05179 0.053691 0.7922496 0.0635048 1.993153e-56 FALSE 4.06131e-06 ENSE00001717226_013 ENSE00001717226 013 2 28851373 28851542 + 57 66 47 A T 28851403 830 31 GCCATTCTCTCAGAGCGGGCACCAGGGGCTTAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628535 28628536 28628536 upstr_intron -27 -0.4561404 GCCATTCTCTCAGAGCGGGCACCAGGGGCTTAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 735 938 0.96536 0.9745211 0.9699406 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.02501414 -0.01234056 0.9894858 0.9886179 NA -0.01867735 NA FALSE NA 0 0.022 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 3/5 1 NA TAA A,T 0.0001977 2:28628536 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant -0.078811 0.12876 0.01849 0.053691 0.7648576 0.0484697 1.993153e-56 FALSE 0.000125895 ENSE00001717226_020 ENSE00001717226 020 2 28851373 28851542 + 57 66 47 C G 28851423 837 51 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCGTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628555 28628556 28628556 upstr_intron -7 -0.1052632 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCGTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 503 454 1 0.9987216 0.9993608 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.009625868 0.01185988 0.9894858 0.9886179 NA 0.01074288 NA FALSE NA 0 0.091 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28628556 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 splice_region_variant -0.027423 0.22064 0.0329 0.053691 0.6433452 0.156666 1.993153e-56 FALSE 0.000130217 ENSE00001717226_021 ENSE00001717226 021 2 28851373 28851542 + 57 66 47 C T 28851423 838 51 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCTTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628555 28628556 28628556 upstr_intron -7 -0.1052632 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCTTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 682 201 0.9993343 1 0.9996672 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.008960206 0.0131383 0.9894858 0.9886179 NA 0.01104925 NA FALSE NA 0 0.091 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003480710 splice_region_variant 0.119048 0.11344 0.00078 0.053691 0.6745288 0.156666 1.993153e-56 FALSE 2.44157e-05 ENSE00001717226_022 ENSE00001717226 022 2 28851373 28851542 + 57 66 47 C T 28851427 839 55 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTATAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628559 28628560 28628560 upstr_intron -3 -0.03508772 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTATAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 815 3491 0.1663007 0.1275313 0.146916 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.8240734 -0.8593304 0.9894858 0.9886179 NA -0.8417019 NA TRUE NA 0.664 0.864 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PLB1 HGNC 30041 ENST00000473272 3/5 rs200077107 1 NA T:0 T:0.0001 ACA C,T 7.413e-05 2:28628560 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 splice_region_variant 0.564131 0.88668 0.34666 0.053691 0.6522454 0.275953 1.993153e-56 FALSE 7.31499e-05 ENSE00001717226_023 ENSE00001717226 023 2 28851373 28851542 + 57 66 47 A T 28851428 840 56 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACTGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628560 28628561 28628561 upstr_intron -2 -0.01754386 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACTGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 927 52 0.00788933 0.006219863 0.007054597 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.9824848 -0.9806418 0.9894858 0.9886179 NA -0.9815633 NA TRUE NA 1 5.011 . splice_acceptor_variant&non_coding_transcript_variant HIGH PLB1 HGNC 30041 ENST00000473272 3/5 1 NA CAG A,T 8.236e-06 2:28628561 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 splice_acceptor_variant 2.783008 0.97324 0.94016 0.053691 0.981687 0.934741 1.993153e-56 FALSE 4.06213e-06 ENSE00001717226_024 ENSE00001717226 024 2 28851373 28851542 + 57 66 47 C A 28851436 841 64 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCAACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628568 28628569 28628569 exon 7 0.1060606 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCAACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 484 656 0.9536612 0.9529463 0.9533037 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.03671296 -0.03391542 0.9894858 0.9886179 NA -0.03531419 NA FALSE NA 0 -0.501 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/6 rs201323637 1 NA CCA C,A 8.236e-06 2:28628569 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 missense_variant -0.193226 0.13431 0.01711 0.553676 0.7392751 0 1.993153e-56 FALSE 8.12275e-06 ENSE00001717226_025 ENSE00001717226 025 2 28851373 28851542 + 57 66 47 C T 28851446 842 74 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCATGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628578 28628579 28628579 exon 17 0.2575758 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCATGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 135 941 1 0.8908771 0.9454386 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.009625868 -0.09598457 0.9894858 0.9886179 NA -0.04317935 NA FALSE NA 0 -0.446 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/6 1 NA ACG C,T 8.236e-06 2:28628579 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 missense_variant 2.107156 0.12243 0.01064 0.487112 0.9839121 0 1.993153e-56 FALSE 8.12275e-06 ENSE00001717226_026 ENSE00001717226 026 2 28851373 28851542 + 57 66 47 G A 28851447 843 75 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACAGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628579 28628580 28628580 exon 18 0.2727273 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACAGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 2746 105 0.9416199 0.9455524 0.9435862 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.04875421 -0.04130928 0.9894858 0.9886179 NA -0.04503174 NA FALSE NA 0 -0.185 rs143298516 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/6 rs143298516 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGG G,A 0.0001153 2:28628580 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 missense_variant 0.666702 0.14671 0.01878 0.487112 0.6357557 0 1.993153e-56 FALSE 5.27979e-05 ENSE00001717226_028 ENSE00001717226 028 2 28851373 28851542 + 57 66 47 G A 28851459 845 87 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAACACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628591 28628592 28628592 exon 30 0.4545455 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAACACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 1158 565 0.9927817 0.9948508 0.9938163 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.002407567 0.007989111 0.9894858 0.9886179 NA 0.005198339 NA FALSE NA 0.006 1.356 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/6 1 NA AGC G,A 8.236e-06 2:28628592 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 missense_variant -0.37353 0.78384 0.10966 0.487112 0.5655374 0 1.993153e-56 FALSE 4.06157e-06 ENSE00001717226_029 ENSE00001717226 029 2 28851373 28851542 + 57 66 47 A G 28851461 846 89 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCGCATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628593 28628594 28628594 exon 32 0.4848485 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCGCATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 231 218 0.9956443 0.9923143 0.9939793 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.005270135 0.005452588 0.9894858 0.9886179 NA 0.005361362 NA FALSE NA 0.222 3.364 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/6 1 NA CAC A,G 8.236e-06 2:28628594 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 missense_variant 1.533959 0.85177 0.39473 0.487112 0.9683895 0 1.993153e-56 FALSE 4.06138e-06 ENSE00001717226_030 ENSE00001717226 030 2 28851373 28851542 + 57 66 47 C T 28851462 847 90 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCATATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628594 28628595 28628595 exon 33 0.5 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCATATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 4081 553 0.7998471 0.8 0.7999236 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.190527 -0.1868617 0.9894858 0.9886179 NA -0.1886944 NA FALSE NA 0.193 -0.116 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/6 1 NA ACA C,T 1.647e-05 2:28628595 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 missense_variant 0.10571 0.81576 0.08644 0.487112 0.6227957 0 1.993153e-56 FALSE 8.12275e-06 ENSE00001717226_031 ENSE00001717226 031 2 28851373 28851542 + 57 66 47 A C 28851463 848 91 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACCTCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628595 28628596 28628596 exon -33 0.5151515 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACCTCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 492 950 0.8746915 0.8984677 0.8865796 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.1156826 -0.08839398 0.9894858 0.9886179 NA -0.1020383 NA FALSE NA 0.491 0.992 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/6 1 NA CAT A,C 8.236e-06 2:28628596 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 missense_variant -0.101143 0.82857 0.11178 0.487112 0.8307378 0 1.993153e-56 FALSE 6.09211e-05 ENSE00001717226_033 ENSE00001717226 033 2 28851373 28851542 + 57 66 47 A T 28851481 850 109 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACTTCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628613 28628614 28628614 exon -15 0.7878788 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACTTCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 178 1575 0.7964259 0.8011004 0.7987631 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.1939483 -0.1857613 0.9894858 0.9886179 NA -0.1898548 NA FALSE NA 0.999 1.285 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/6 1 NA CAT A,T 8.236e-06 2:28628614 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 missense_variant 5.08685 0.95481 0.67421 0.553676 0.9861672 0 1.993153e-56 FALSE 4.06141e-06 ENSE00001717226_035 ENSE00001717226 035 2 28851373 28851542 + 57 66 47 G C 28851504 852 132 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGACGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628636 28628637 28628637 downstr_intron 9 1.195652 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGACGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 356 577 0.7940313 0.8004381 0.7972347 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.1963428 -0.1864236 0.9894858 0.9886179 NA -0.1913832 NA FALSE NA 0 0.543 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/5 1 NA AGG G,C 4.942e-05 2:28628637 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant 0.715058 0.16248 0.06591 0.053691 0.6753099 0.0469395 1.993153e-56 FALSE 3.65548e-05 ENSE00001717226_036 ENSE00001717226 036 2 28851373 28851542 + 57 66 47 G T 28851507 853 135 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGTTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628639 28628640 28628640 downstr_intron 12 1.26087 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGTTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 292 297 0.9907048 0.9717967 0.9812508 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.0003306769 -0.01506501 0.9894858 0.9886179 NA -0.007367165 NA FALSE NA 0 -0.308 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/5 1 NA GGT G,T 1.647e-05 2:28628640 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant -0.044212 0.15496 0.0414 0.053691 0.7363793 0.0469395 1.993153e-56 FALSE 8.12348e-06 ENSE00001717226_037 ENSE00001717226 037 2 28851373 28851542 + 57 66 47 G A 28851512 854 140 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACATGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628644 28628645 28628645 downstr_intron 17 1.369565 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACATGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 2411 1038 0.9883501 0.996132 0.9922411 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.002023986 0.009270285 0.9894858 0.9886179 NA 0.00362315 NA FALSE NA 0 -2.859 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:28628645 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant -0.673394 0.06808 0.00138 0.053691 0.6588951 0.0469395 1.993153e-56 FALSE 3.24987e-05 ENSE00001717226_038 ENSE00001717226 038 2 28851373 28851542 + 57 66 47 G T 28851512 855 140 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACTTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628644 28628645 28628645 downstr_intron 17 1.369565 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACTTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 1081 856 0.9982355 0.8825344 0.940385 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.007861381 -0.1043273 0.9894858 0.9886179 NA -0.04823294 NA FALSE NA 0 -2.859 NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00003480710 intron_variant -0.939503 0.08107 0.00633 0.053691 0.5494974 0.0469395 1.993153e-56 FALSE 4.06233e-06 ENSE00001717226_039 ENSE00001717226 039 2 28851373 28851542 + 57 66 47 C G 28851517 856 145 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTGCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628649 28628650 28628650 downstr_intron 22 1.478261 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTGCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 225 131 0.9874709 1 0.9937354 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.00290327 0.0131383 0.9894858 0.9886179 NA 0.005117516 NA FALSE NA 0 -0.002 rs78394306 intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/5 rs78394306 1 G:0.0555 G:0.1135 G:0.0245 NA G:0.0556 G:0.0417 G:0.0133 G:0.1094 G:0.0194 TCC C,G 0.031 2:28628650 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant 0.27825 0.16725 0.07363 0.053691 0.5751643 0.0476831 1.993153e-56 FALSE 0.0299027 ENSE00001717226_040 ENSE00001717226 040 2 28851373 28851542 + 57 66 47 T G 28851519 857 147 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCGGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 28628651 28628652 28628652 downstr_intron 24 1.521739 GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCGGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG mutant NA NA NA NA NA 2306 439 0.9965438 0.9941586 0.9953512 0.9876567 0.9913149 0.9903741 0.9868617 NA NA 0.006169641 0.007296894 0.9894858 0.9886179 NA 0.006733267 NA FALSE NA 0 -0.184 . intron_variant&non_coding_transcript_variant MODIFIER PLB1 HGNC 30041 ENST00000473272 4/5 1 NA CTG T,G 8.236e-06 2:28628652 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00003480710 intron_variant 0.237297 0.15139 0.03159 0.053691 0.6402411 0.0476831 1.993153e-56 FALSE 2.43789e-05 ENSE00001717226_BRK ENSE00001717226 BRK 2 28851373 28851542 + 57 66 47 A,G; T,T NA NA NA GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACTTGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGCCAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG 28628505 28628675 NA NA NA NA NA NA GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACTTGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGCCAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG GCCATTCTCTCAGAGCGGGCACCAGGGGCTAAAGAGAGTACCCTTTTTTCCTTACAGGAGGCCCACTTGGCCACGGAATATGTTCAGCACATCCAACAGGCCCTGGACATCCTCTCTGAGGAGGTAGGAGAGGGGTTACGTGTTCCTGGGTCCCGCCAGCCACCTCCCTG control NA NA NA NA NA 522 1523 0 0 0 0.9876567 0.9913149 0.9903741 0.9868617 NA NA -0.9903741 -0.9868617 0.9894858 0.9886179 NA -0.9886179 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003480710 NA NA NA NA NA NA NA NA NA NA ENSE00001717577_000 ENSE00001717577 000 9 124521136 124521305 + 41 99 30 NA NA NA NA NA CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 NA NA NA NA NA NA GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG natural 51 39 0.9934813 0.9955663 0.9945238 2882 1849 0.9913419 0.9183755 0.9548587 0.9934813 0.9955663 0.9913419 0.9183755 0 0 0 0 0.9945238 0.9548587 0 0 0 FALSE FALSE NA NA NA NA NA DAB2IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DAB2IP NA NA NA ENSG00000136848 ENSE00001717577 NA NA NA NA NA NA NA 0.9996521 TRUE NA ENSE00001717577_001 ENSE00001717577 001 9 124521136 124521305 + 41 99 30 C T 124521146 2272 11 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAAGGAAGGGACC 121758856 121759026 121758866 121758867 121758867 upstr_intron -31 -0.7317073 GGTCCCTTCCTTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 225 223 0.9860898 1 0.9930449 0.9934813 0.9955663 0.9913419 0.9183755 NA NA -0.005252134 0.0816245 0.9945238 0.9548587 NA 0.03818618 NA FALSE NA 0.002 1.21 . downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 1 NA CCT C,T 8.237e-06 9:121758867 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 intron_variant 0.1926 0.21741 0.01792 0.062308 0.6040589 0.0438092 0.9996521 TRUE 8.60415e-06 ENSE00001717577_002 ENSE00001717577 002 9 124521136 124521305 + 41 99 30 T C 124521147 2273 12 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGGGGGAAGGGACC 121758856 121759026 121758867 121758868 121758868 upstr_intron -30 -0.7073171 GGTCCCTTCCCCCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 78 732 1 1 1 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.008658078 0.0816245 0.9945238 0.9548587 NA 0.04514129 NA FALSE NA 0 -0.169 rs187297125 downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 rs187297125 1 C:0.0012 C:0 C:0 NA C:0 C:0.006 C:0 C:0.0014 C:0.003 CTC T,C 0.001672 9:121758868 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 intron_variant 0.126926 0.17102 0.014 0.062308 0.5835262 0.0438092 0.9996521 TRUE 0.0016343 ENSE00001717577_004 ENSE00001717577 004 9 124521136 124521305 + 41 99 30 C G 124521172 2275 37 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTCGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758892 121758893 121758893 upstr_intron -5 -0.09756098 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCGACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 361 180 0.993797 1 0.9968985 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.002455054 0.0816245 0.9945238 0.9548587 NA 0.04203978 NA FALSE NA 0 -0.453 NA NA NA DAB2IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:121758893 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 splice_region_variant 0.528219 0.23446 0.26122 0.080785 0.5472387 0.139477 0.9996521 TRUE 0.000123599 ENSE00001717577_012 ENSE00001717577 012 9 124521136 124521305 + 41 99 30 C T 124521213 2283 78 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCAGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758933 121758934 121758934 exon 37 0.3737374 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCTGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 44 172 0.9990609 0.9584305 0.9787457 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.007719 0.04005504 0.9945238 0.9548587 NA 0.02388702 NA FALSE NA 1 2.684 rs147323804 downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 rs147323804 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 3.295e-05 9:121758934 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 missense_variant 7.6559 0.99177 0.96107 0.706298 0.9992622 0 0.9996521 TRUE 1.63064e-05 ENSE00001717577_013 ENSE00001717577 013 9 124521136 124521305 + 41 99 30 G A 124521215 2284 80 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGATCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758935 121758936 121758936 exon 39 0.3939394 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGATCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 54 61 1 1 1 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.008658078 0.0816245 0.9945238 0.9548587 NA 0.04514129 NA FALSE NA 0.065 -0.823 . downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 1 NA GGT G,A 2.471e-05 9:121758936 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 synonymous_variant 0.409092 0.92518 0.18538 0.706298 0.7373346 0 0.9996521 TRUE NA ENSE00001717577_015 ENSE00001717577 015 9 124521136 124521305 + 41 99 30 G T 124521231 2286 96 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATACCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758951 121758952 121758952 exon -45 0.5555556 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGTATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 2023 317 0.9966923 0.9783084 0.9875003 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.005350339 0.05993291 0.9945238 0.9548587 NA 0.03264162 NA FALSE NA 1 9.867 . downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 1 NA GGA G,T 8.237e-06 9:121758952 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 missense_variant 6.653538 0.99464 0.99452 0.706298 0.995219 0 0.9996521 TRUE 4.07947e-06 ENSE00001717577_016 ENSE00001717577 016 9 124521136 124521305 + 41 99 30 T C 124521233 2287 98 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTGTCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758953 121758954 121758954 exon -43 0.5757576 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGACAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 110 297 1 0.9965973 0.9982986 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.008658078 0.07822179 0.9945238 0.9548587 NA 0.04343993 NA FALSE NA 1 0.524 . downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 rs374038020 1 NA C:0.0002 C:0 ATA T,C 8.237e-06 9:121758954 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 synonymous_variant 0.547649 0.97461 0.75783 0.706298 0.6130796 0 0.9996521 TRUE 4.078e-06 ENSE00001717577_017 ENSE00001717577 017 9 124521136 124521305 + 41 99 30 A C 124521247 2288 112 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGGTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758967 121758968 121758968 exon -29 0.7171717 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGACCCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 84 51 1 1 1 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.008658078 0.0816245 0.9945238 0.9548587 NA 0.04514129 NA FALSE NA 1 9.338 . downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 1 NA AAC A,C 8.237e-06 9:121758968 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 missense_variant 5.94279 0.99282 0.99348 0.706298 0.9964117 0 0.9996521 TRUE 4.09296e-06 ENSE00001717577_022 ENSE00001717577 022 9 124521136 124521305 + 41 99 30 C T 124521259 2293 124 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACCACTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758979 121758980 121758980 exon -17 0.8383838 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGTGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 321 163 0.9947065 0.9997662 0.9972363 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.003364535 0.08139068 0.9945238 0.9548587 NA 0.04237761 NA FALSE NA 1 6.088 . downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 1 NA GCG C,T 8.237e-06 9:121758980 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 missense_variant 7.311836 0.99004 0.9765 0.706298 0.9993191 0 0.9996521 TRUE NA ENSE00001717577_023 ENSE00001717577 023 9 124521136 124521305 + 41 99 30 G A 124521260 2294 125 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGGGATGCACTGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758980 121758981 121758981 exon -16 0.8484848 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCAGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 57 108 0.9992758 1 0.9996379 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.007933843 0.0816245 0.9945238 0.9548587 NA 0.04477917 NA FALSE NA 0 -4.462 rs3747851 downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 rs3747851 1 A:0.0479 A:0 A:0.0389 NA A:0.1716 A:0.008 A:0.0327 A:0.002 A:0.0008 CGG G,A 0.026 9:121758981 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 synonymous_variant 1.353119 0.08997 0.02143 0.706298 0.7475667 0 0.9996521 TRUE 0.028025 ENSE00001717577_025 ENSE00001717577 025 9 124521136 124521305 + 41 99 30 C T 124521268 2296 133 CATGCTTTGGTGAGAGGGGCGCAGGCTTACCTTGTTGAGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121758988 121758989 121758989 exon -8 0.9292929 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCTCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 12 2334 1 0.998186 0.999093 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.008658078 0.07981049 0.9945238 0.9548587 NA 0.04423428 NA FALSE NA 1 7.815 . downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 1 NA CCC C,T 2.471e-05 9:121758989 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 missense_variant 7.195989 0.99431 0.98903 0.706298 0.9987386 0 0.9996521 TRUE 1.6589e-05 ENSE00001717577_026 ENSE00001717577 026 9 124521136 124521305 + 41 99 30 C G 124521281 2297 146 CATGCTTTGGTGAGAGGGGCGCAGCCTTACCTTGTTGGGATGCACCGCTCGCCGGAGGTTCTCCATCCACTTATCCCGCTCAGCTGCAGACCGGCAGGAAAAGCACTTGCTTCCTGATGACGTCGTCACCTGTGGGGAGCAGGCAAGACAGTGTTATGAGGGAAGGGACC 121758856 121759026 121759001 121759002 121759002 downstr_intron 6 1.206897 GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGGCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG mutant NA NA NA NA NA 107 255 1 0.9998506 0.9999253 0.9934813 0.9955663 0.9913419 0.9183755 NA NA 0.008658078 0.08147512 0.9945238 0.9548587 NA 0.0450666 NA FALSE NA 0.01 0.262 . downstream_gene_variant MODIFIER DAB2IP HGNC 17294 ENST00000487716 1 NA GCC C,G 1.648e-05 9:121759002 DAB2IP HGNC Symbol protein_coding 218473 ENSG00000136848 ENSE00001717577 splice_region_variant 1.10426 0.94816 0.24698 0.062308 0.8679339 0.409649 0.9996521 TRUE 1.27451e-05 ENSE00001717577_BRK ENSE00001717577 BRK 9 124521136 124521305 + 41 99 30 A,G; T,T NA NA NA GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACTTGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGCCAAGCCTGCGCCCCTCTCACCAAAGCATG 121758856 121759026 NA NA NA NA NA NA GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACTTGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGCCAAGCCTGCGCCCCTCTCACCAAAGCATG GGTCCCTTCCCTCATAACACTGTCTTGCCTGCTCCCCACAGGTGACGACGTCATCAGGAAGCAAGTGCTTTTCCTGCCGGTCTGCAGCTGAGCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATCCCAACAAGGTAAGCCTGCGCCCCTCTCACCAAAGCATG control 87 11 0 0 0 NA NA NA NA NA 0.9934813 0.9955663 0.9913419 0.9183755 -0.9934813 -0.9955663 NA NA 0.9945238 0.9548587 -0.9945238 NA NA NA TRUE NA NA NA NA NA DAB2IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DAB2IP NA NA NA ENSG00000136848 ENSE00001717577 NA NA NA NA NA NA NA 0.9996521 TRUE NA ENSE00001717914_000 ENSE00001717914 000 10 88813051 88813220 - 48 63 59 NA NA NA NA NA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 NA NA NA NA NA NA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA natural 45 22 0.9971094 0.9924454 0.9947774 1834 1567 0.8033245 0.980289 0.8918067 0.9971094 0.9924454 0.8033245 0.980289 0 0 0 0 0.9947774 0.8918067 0 0 0 FALSE FALSE NA NA NA NA NA GLUD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLUD1 NA NA NA ENSG00000148672 ENSE00001717914 NA NA NA NA NA NA NA 0.01393546 FALSE NA ENSE00001717914_002 ENSE00001717914 002 10 88813051 88813220 - 48 63 59 T C 88813066 1858 155 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTGGTCACATGAAGTGCA 87053293 87053463 87053308 87053309 87053309 downstr_intron 33 1.702128 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTGGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 596 261 0.9993075 0.9985284 0.9989179 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.195983 0.01823946 0.9947774 0.8918067 NA 0.1071112 NA FALSE NA 0 -0.582 . intron_variant MODIFIER GLUD1 HGNC 4335 ENST00000277865 12/12 1 NA CTA T,C 8.236e-06 10:87053309 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 intron_variant 0.388091 0.1785 0.08483 0.160075 0.4949728 0.0734979 0.01393546 FALSE 8.15295e-06 ENSE00001717914_003 ENSE00001717914 003 10 88813051 88813220 - 48 63 59 C T 88813087 1859 134 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAAATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053329 87053330 87053330 downstr_intron 12 1.255319 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAAATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 393 53 0.9685349 1 0.9842675 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.1652104 0.01971104 0.9947774 0.8918067 NA 0.09246074 NA FALSE NA 0 -0.636 NA NA NA GLUD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:87053330 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 intron_variant 1.253973 0.20846 0.11252 0.160075 0.7085474 0.0725137 0.01393546 FALSE 0.000126028 ENSE00001717914_005 ENSE00001717914 005 10 88813051 88813220 - 48 63 59 T G 88813088 1861 133 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCCGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053330 87053331 87053331 downstr_intron 11 1.234043 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCCGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 34 613 1 0.9971564 0.9985782 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.1966755 0.01686746 0.9947774 0.8918067 NA 0.1067715 NA FALSE NA 0.023 1.085 . intron_variant MODIFIER GLUD1 HGNC 4335 ENST00000277865 12/12 rs111580624 1 NA CTG T,G 1.647e-05 10:87053331 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 intron_variant 1.122769 0.22538 0.299 0.160075 0.7382269 0.0725137 0.01393546 FALSE 8.13074e-06 ENSE00001717914_006 ENSE00001717914 006 10 88813051 88813220 - 48 63 59 G C 88813102 1862 119 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCGAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053344 87053345 87053345 exon -4 0.952381 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCGAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 898 777 0.9928305 1 0.9964153 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.189506 0.01971104 0.9947774 0.8918067 NA 0.1046085 NA FALSE NA 1 0.674 . synonymous_variant LOW GLUD1 HGNC 4335 ENST00000277865 12/13 1 NA TGG G,C 8.236e-05 10:87053345 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 synonymous_variant 0.483847 0.81012 0.83912 0.706548 0.6147225 0 0.01393546 FALSE 0.000125966 ENSE00001717914_008 ENSE00001717914 008 10 88813051 88813220 - 48 63 59 C A 88813109 1864 112 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCTTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053351 87053352 87053352 exon -11 0.8412698 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCTTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 93 235 0.9848273 0.9916147 0.988221 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.1815028 0.01132571 0.9947774 0.8918067 NA 0.09641423 NA FALSE NA 1 7.487 NA NA NA GLUD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:87053352 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 missense_variant 4.891975 0.96084 0.96576 0.706548 0.9935279 0 0.01393546 FALSE 4.06289e-06 ENSE00001717914_010 ENSE00001717914 010 10 88813051 88813220 - 48 63 59 C T 88813140 1866 81 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCATGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053382 87053383 87053383 exon 22 0.3492063 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCATGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 77 874 0.8067268 0.8 0.8033634 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.003402257 -0.180289 0.9947774 0.8918067 NA -0.08844335 NA FALSE NA 1 7.487 . missense_variant MODERATE GLUD1 HGNC 4335 ENST00000277865 12/13 1 deleterious(0.03) possibly_damaging(0.856) NA ACG C,T 8.236e-06 10:87053383 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 missense_variant 5.030297 0.94879 0.95221 0.706548 0.9972867 0 0.01393546 FALSE 4.06227e-06 ENSE00001717914_011 ENSE00001717914 011 10 88813051 88813220 - 48 63 59 G A 88813141 1867 80 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATTGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053383 87053384 87053384 exon 21 0.3333333 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATTGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 77 279 0.8067832 0.8 0.8033916 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.00345874 -0.180289 0.9947774 0.8918067 NA -0.08841511 NA FALSE NA 0.004 -1.247 . synonymous_variant LOW GLUD1 HGNC 4335 ENST00000277865 12/13 1 NA CGA G,A 6.589e-05 10:87053384 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 synonymous_variant 1.104917 0.88107 0.23231 0.706548 0.5577869 0 0.01393546 FALSE 7.71818e-05 ENSE00001717914_012 ENSE00001717914 012 10 88813051 88813220 - 48 63 59 C T 88813150 1868 71 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAAAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053392 87053393 87053393 exon 12 0.1904762 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAAAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 320 541 0.997793 0.9775025 0.9876478 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.1944685 -0.002786427 0.9947774 0.8918067 NA 0.09584103 NA FALSE NA 1 1.592 . synonymous_variant LOW GLUD1 HGNC 4335 ENST00000277865 12/13 1 NA TCT C,T 8.236e-06 10:87053393 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 synonymous_variant 1.415149 0.93005 0.86319 0.706548 0.4927268 0 0.01393546 FALSE 4.06303e-06 ENSE00001717914_013 ENSE00001717914 013 10 88813051 88813220 - 48 63 59 T C 88813156 1869 65 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCGTCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053398 87053399 87053399 exon 6 0.0952381 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCGTCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant NA NA NA NA NA 229 324 0.8197519 1 0.909876 0.9971094 0.9924454 0.8033245 0.980289 NA NA 0.01642743 0.01971104 0.9947774 0.8918067 NA 0.01806923 NA FALSE NA 0.14 -0.65 . synonymous_variant LOW GLUD1 HGNC 4335 ENST00000277865 12/13 1 NA ATG T,C 2.471e-05 10:87053399 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 synonymous_variant 0.401635 0.86216 0.3499 0.706548 0.4766562 0 0.01393546 FALSE 2.84446e-05 ENSE00001717914_015 ENSE00001717914 015 10 88813051 88813220 - 48 63 59 A T 88813172 1871 49 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTATCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 87053414 87053415 87053415 upstr_intron -11 -0.1694915 ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTATCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA mutant 50 36 0.8389591 0.85 0.8444795 37 409 0.744792 0.800618 0.772705 0.9971094 0.9924454 0.8033245 0.980289 -0.1581503 -0.1424454 -0.05853246 -0.179671 0.9947774 0.8918067 -0.1502978 -0.1191017 0.03119611 FALSE FALSE 0.102 2.231 . intron_variant MODIFIER GLUD1 HGNC 4335 ENST00000277865 11/12 1 NA AAA A,T 8.236e-06 10:87053415 GLUD1 HGNC Symbol protein_coding 44380 ENSG00000148672 ENSE00001717914 intron_variant 0.983805 0.25322 0.68318 0.099367 0.7693147 0.116466 0.01393546 FALSE 4.06792e-06 ENSE00001717914_BRK ENSE00001717914 BRK 10 88813051 88813220 - 48 63 59 A,G; T,T NA NA NA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATTTGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGCCATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA 87053293 87053463 NA NA NA NA NA NA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATTTGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGCCATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA ACAGGGACACAAAGCAGGTCTTTGTGGTTTTGTTAAACTTGTGTTCTTTTCCCTAATAGGGTGCATCTGAGAAAGACATCGTGCACTCTGGCTTGGCATACACAATGGAGCGTTCTGCCAGGGTATGTGTGCAGATGCTGTTTGCCTTCCAGCTAGTCACATGAAGTGCA control 33 217 0 0 0 NA NA NA NA NA 0.9971094 0.9924454 0.8033245 0.980289 -0.9971094 -0.9924454 NA NA 0.9947774 0.8918067 -0.9947774 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLUD1 NA NA NA ENSG00000148672 ENSE00001717914 NA NA NA NA NA NA NA 0.01393546 FALSE NA ENSE00001718712_000 ENSE00001718712 000 1 103381134 103381303 - 53 54 63 NA NA NA NA NA GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 NA NA NA NA NA NA GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT natural 186 131 0.9821149 0.9921606 0.9871378 5141 7562 0.9837952 0.9896878 0.9867415 0.9821149 0.9921606 0.9837952 0.9896878 0 0 0 0 0.9871378 0.9867415 0 0 0 FALSE FALSE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001718712 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001718712_001 ENSE00001718712 001 1 103381134 103381303 - 53 54 63 A G 103381148 2774 156 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGCTTGGGAATTTCTTT 102915577 102915747 102915591 102915592 102915592 downstr_intron 39 1.75 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGCTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 13 25 1 1 1 187 2628 0.9331779 0.8588759 0.8960269 0.9821149 0.9921606 0.9837952 0.9896878 0.01788508 0.007839407 -0.0506173 -0.130812 0.9871378 0.9867415 0.01286224 -0.09071463 0.1035769 FALSE FALSE 0 0.067 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 48/64 1 NA AAC A,G 2.471e-05 1:102915592 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant 0.214513 0.26793 0.09121 0.061011 0.3009482 0.0436289 0.9999806 TRUE 8.13253e-06 ENSE00001718712_002 ENSE00001718712 002 1 103381134 103381303 - 53 54 63 A G 103381152 2775 152 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTACTGGTTTGGGAATTTCTTT 102915577 102915747 102915595 102915596 102915596 downstr_intron 35 1.673077 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTACTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 28 34 0.9960917 0.9976205 0.9968561 988 1816 0.9977773 1 0.9988887 0.9821149 0.9921606 0.9837952 0.9896878 0.01397677 0.005459899 0.01398215 0.01031216 0.9871378 0.9867415 0.009718333 0.01214715 0.002428819 FALSE FALSE 0 -2.739 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 48/64 1 NA AAT A,G 2.471e-05 1:102915596 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant 0.097024 0.10218 0.00793 0.061011 0.2708624 0.0436289 0.9999806 TRUE 2.84511e-05 ENSE00001718712_003 ENSE00001718712 003 1 103381134 103381303 - 53 54 63 C A 103381158 2776 146 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTTTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915601 102915602 102915602 downstr_intron 29 1.557692 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTTTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 1170 273 0.9979159 1 0.998958 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01412076 0.01031216 0.9871378 0.9867415 NA 0.01221646 NA FALSE NA 0 -1.05 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 48/64 1 NA ACA C,A 8.236e-06 1:102915602 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant 0.054797 0.13016 0.0414 0.061011 0.45303 0.0443366 0.9999806 TRUE 4.06375e-06 ENSE00001718712_004 ENSE00001718712 004 1 103381134 103381303 - 53 54 63 T C 103381165 2777 139 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAGCATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915608 102915609 102915609 downstr_intron 22 1.423077 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAGCATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 562 683 0.993665 0.9959432 0.9948041 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.009869874 0.006255314 0.9871378 0.9867415 NA 0.008062594 NA FALSE NA 0 -1.077 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 48/64 1 NA GTT T,C 8.236e-06 1:102915609 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant -0.02981 0.17845 0.00806 0.061011 0.227563 0.0443366 0.9999806 TRUE 4.06349e-06 ENSE00001718712_005 ENSE00001718712 005 1 103381134 103381303 - 53 54 63 T A 103381172 2778 132 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTTTTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915615 102915616 102915616 downstr_intron 15 1.288462 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTTTTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 31 609 1 0.9943043 0.9971521 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01620484 0.004616408 0.9871378 0.9867415 NA 0.01041062 NA FALSE NA 0 -1.17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:102915616 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant 0.226636 0.23527 0.06849 0.061011 0.4227785 0.0443366 0.9999806 TRUE 3.65699e-05 ENSE00001718712_006 ENSE00001718712 006 1 103381134 103381303 - 53 54 63 T C 103381172 2779 132 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTGTTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915615 102915616 102915616 downstr_intron 15 1.288462 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTGTTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 21 27 1 1 1 1399 93 0.9921804 1 0.9960902 0.9821149 0.9921606 0.9837952 0.9896878 0.01788508 0.007839407 0.008385192 0.01031216 0.9871378 0.9867415 0.01286224 0.009348675 0.003513567 FALSE FALSE 0 -1.17 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001718712 intron_variant -0.092225 0.16475 0.04942 0.061011 0.4189438 0.0443366 0.9999806 TRUE 4.06332e-06 ENSE00001718712_007 ENSE00001718712 007 1 103381134 103381303 - 53 54 63 C A 103381175 2780 129 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTTTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915618 102915619 102915619 downstr_intron 12 1.230769 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTTTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 33 37 0.9852902 0.9969846 0.9911374 1088 2565 0.9226209 0.9765634 0.9495922 0.9821149 0.9921606 0.9837952 0.9896878 0.003175259 0.004823988 -0.06117422 -0.01312444 0.9871378 0.9867415 0.003999624 -0.03714933 0.04114895 FALSE FALSE 0 0.038 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 48/64 1 NA ACA C,A 8.236e-06 1:102915619 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant 0.180088 0.18843 0.05302 0.061011 0.3217633 0.0443366 0.9999806 TRUE 4.06312e-06 ENSE00001718712_008 ENSE00001718712 008 1 103381134 103381303 - 53 54 63 C A 103381177 2781 127 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTTTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915620 102915621 102915621 downstr_intron 10 1.192308 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTTTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 629 717 1 0.995241 0.9976205 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01620484 0.005553161 0.9871378 0.9867415 NA 0.010879 NA FALSE NA 0 -1.843 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 48/64 1 NA ACA C,A 8.236e-06 1:102915621 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant 0.128178 0.12675 0.0066 0.061011 0.3669769 0.0788597 0.9999806 TRUE 4.06339e-06 ENSE00001718712_009 ENSE00001718712 009 1 103381134 103381303 - 53 54 63 G A 103381179 2782 125 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTATTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915622 102915623 102915623 downstr_intron 8 1.153846 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTATTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 1810 625 0.9562636 1 0.9781318 0.9821149 0.9921606 0.9837952 0.9896878 NA NA -0.02753154 0.01031216 0.9871378 0.9867415 NA -0.00860969 NA FALSE NA 0 -0.3 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 48/64 COSM3975762&COSM3975763 1 NA AGT G,A 1.647e-05 1:102915623 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 splice_region_variant 0.180527 0.19598 0.01228 0.061011 0.2349191 0.117567 0.9999806 TRUE 2.43791e-05 ENSE00001718712_010 ENSE00001718712 010 1 103381134 103381303 - 53 54 63 C A 103381192 2783 112 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTTTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915635 102915636 102915636 exon -6 0.9074074 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTTTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 333 347 1 1 1 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01620484 0.01031216 0.9871378 0.9867415 NA 0.0132585 NA FALSE NA 0 -0.586 rs150669855 missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 48/65 rs150669855 1 unknown(0) A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 A:0 A:0.0014 ACA C,A 0.0007578 1:102915636 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 missense_variant -1.055394 0.13966 0.0403 0.693126 0.4992486 0 0.9999806 TRUE 0.000637973 ENSE00001718712_011 ENSE00001718712 011 1 103381134 103381303 - 53 54 63 C T 103381194 2784 110 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGATGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915637 102915638 102915638 exon -8 0.8703704 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGATGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 1285 377 0.9985336 0.9991601 0.9988468 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01473839 0.009472225 0.9871378 0.9867415 NA 0.01210531 NA FALSE NA 1 7.149 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 48/65 1 unknown(0) NA ACC C,T 8.237e-06 1:102915638 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 missense_variant 4.656211 0.99489 0.99122 0.693126 0.9912303 0 0.9999806 TRUE 4.06352e-06 ENSE00001718712_012 ENSE00001718712 012 1 103381134 103381303 - 53 54 63 C T 103381201 2785 103 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGAAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915644 102915645 102915645 exon -15 0.7407407 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGAAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 559 150 0.9952861 1 0.9976431 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01149094 0.01031216 0.9871378 0.9867415 NA 0.01090155 NA FALSE NA 1 7.149 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 48/65 1 unknown(0) NA TCC C,T 1.647e-05 1:102915645 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 missense_variant 4.834126 0.99489 0.99122 0.693126 0.9969168 0 0.9999806 TRUE 1.21902e-05 ENSE00001718712_014 ENSE00001718712 014 1 103381134 103381303 - 53 54 63 C T 103381211 2787 93 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGACCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915654 102915655 102915655 exon -25 0.5555556 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGACCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 16 23 1 0.9837694 0.9918847 714 173 0.999016 1 0.999508 0.9821149 0.9921606 0.9837952 0.9896878 0.01788508 -0.008391206 0.01522085 0.01031216 0.9871378 0.9867415 0.004746935 0.0127665 0.008019569 FALSE FALSE 0.891 0.028 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 48/65 rs372122122 1 NA T:0 T:0.0001 GCC C,T 8.236e-06 1:102915655 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 synonymous_variant 1.586551 0.93776 0.44952 0.693126 0.6221973 0 0.9999806 TRUE 1.6255e-05 ENSE00001718712_015 ENSE00001718712 015 1 103381134 103381303 - 53 54 63 T C 103381214 2788 90 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCGGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915657 102915658 102915658 exon 27 0.5 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCGGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 77 87 0.9759747 0.9913915 0.9836831 1514 137 0.9980305 0.9796439 0.9888372 0.9821149 0.9921606 0.9837952 0.9896878 -0.006140252 -0.0007690525 0.01423535 -0.01004391 0.9871378 0.9867415 -0.003454652 0.002095718 0.00555037 FALSE FALSE 0.557 -0.396 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:102915658 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 synonymous_variant 0.842654 0.86685 0.43449 0.693126 0.699956 0 0.9999806 TRUE 0.000345447 ENSE00001718712_016 ENSE00001718712 016 1 103381134 103381303 - 53 54 63 T A 103381214 2789 90 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCTGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915657 102915658 102915658 exon 27 0.5 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCTGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 33 66 0.9884872 0.9895177 0.9890025 422 673 1 1 1 0.9821149 0.9921606 0.9837952 0.9896878 0.006372299 -0.002642886 0.01620484 0.01031216 0.9871378 0.9867415 0.001864706 0.0132585 0.01139379 FALSE FALSE 0.557 -0.396 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001718712 synonymous_variant 1.670334 0.86158 0.29217 0.693126 0.6816795 0 0.9999806 TRUE 4.06408e-06 ENSE00001718712_017 ENSE00001718712 017 1 103381134 103381303 - 53 54 63 G A 103381215 2790 89 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCTAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915658 102915659 102915659 exon 26 0.4814815 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCTAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 154 161 1 1 1 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01620484 0.01031216 0.9871378 0.9867415 NA 0.0132585 NA FALSE NA 1 9.039 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 48/65 1 unknown(0) NA TGG G,A 1.647e-05 1:102915659 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 missense_variant 5.526327 0.99503 0.99407 0.693126 0.9973459 0 0.9999806 TRUE 2.84486e-05 ENSE00001718712_018 ENSE00001718712 018 1 103381134 103381303 - 53 54 63 G T 103381224 2791 80 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGAAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915667 102915668 102915668 exon 17 0.3148148 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGAAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 216 1616 1 0.8102578 0.9051289 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01620484 -0.17943 0.9871378 0.9867415 NA -0.0816126 NA FALSE NA 1 9.039 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 48/65 1 unknown(0) NA TGC G,T 1.647e-05 1:102915668 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 missense_variant 5.512232 0.99522 0.99494 0.693126 0.9779773 0 0.9999806 TRUE 2.43861e-05 ENSE00001718712_019 ENSE00001718712 019 1 103381134 103381303 - 53 54 63 C G 103381225 2792 79 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAACCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915668 102915669 102915669 exon 16 0.2962963 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAACCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 698 650 1 0.9265725 0.9632863 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01620484 -0.06311532 0.9871378 0.9867415 NA -0.02345524 NA FALSE NA 1 5.442 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 48/65 1 unknown(0) NA GCT C,G 8.237e-06 1:102915669 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 missense_variant 3.355335 0.9918 0.98763 0.693126 0.9817754 0 0.9999806 TRUE 4.06418e-06 ENSE00001718712_020 ENSE00001718712 020 1 103381134 103381303 - 53 54 63 C G 103381228 2793 76 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGACAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915671 102915672 102915672 exon 13 0.2407407 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGACAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 14 23 0.9941577 0.9997706 0.9969641 262 747 0.9953443 0.9875177 0.991431 0.9821149 0.9921606 0.9837952 0.9896878 0.01204279 0.007609962 0.01154913 -0.002170141 0.9871378 0.9867415 0.009826375 0.004689493 0.005136882 FALSE FALSE 1 7.149 rs148517780 missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 48/65 rs148517780 1 unknown(0) NA G:0.0002 G:0 TCT C,G 8.237e-06 1:102915672 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 missense_variant 5.230696 0.99516 0.99283 0.638212 0.9953779 0 0.9999806 TRUE NA ENSE00001718712_021 ENSE00001718712 021 1 103381134 103381303 - 53 54 63 A G 103381247 2794 57 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCCATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915690 102915691 102915691 upstr_intron -7 -0.0952381 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCCATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 82 27 0.9884017 1 0.9942009 971 2495 0.9925497 0.9995411 0.9960454 0.9821149 0.9921606 0.9837952 0.9896878 0.006286817 0.007839407 0.008754549 0.009853245 0.9871378 0.9867415 0.007063112 0.009303897 0.002240785 FALSE FALSE 0.001 1.788 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 47/64 1 NA TAG A,G 8.237e-06 1:102915691 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 splice_region_variant 0.442747 0.33589 0.21458 0.061011 0.6703787 0.121506 0.9999806 TRUE 1.2233e-05 ENSE00001718712_022 ENSE00001718712 022 1 103381134 103381303 - 53 54 63 G A 103381250 2795 54 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTTTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915693 102915694 102915694 upstr_intron -10 -0.1428571 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTTTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant 31 16 1 1 1 1027 738 0.8943302 0.9564111 0.9253706 0.9821149 0.9921606 0.9837952 0.9896878 0.01788508 0.007839407 -0.08946499 -0.03327678 0.9871378 0.9867415 0.01286224 -0.06137088 0.07423313 FALSE FALSE 0 -0.278 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 47/64 1 NA AGA G,A 1.647e-05 1:102915694 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant 0.274867 0.17422 0.00764 0.061011 0.4894631 0.117599 0.9999806 TRUE 4.07478e-06 ENSE00001718712_023 ENSE00001718712 023 1 103381134 103381303 - 53 54 63 A G 103381265 2796 39 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAACACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915708 102915709 102915709 upstr_intron -25 -0.3809524 GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAACACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 2037 2116 0.973171 0.9944284 0.9837997 0.9821149 0.9921606 0.9837952 0.9896878 NA NA -0.01062415 0.004740567 0.9871378 0.9867415 NA -0.002941792 NA FALSE NA 0 -0.366 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 47/64 1 NA TAT A,G 8.237e-06 1:102915709 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant 0.316132 0.17975 0.03088 0.061011 0.7554318 0.0455939 0.9999806 TRUE 1.22658e-05 ENSE00001718712_024 ENSE00001718712 024 1 103381134 103381303 - 53 54 63 T C 103381285 2797 19 GAATTTTATAAATGTAAAGGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 102915728 102915729 102915729 upstr_intron -45 -0.6984127 GAATTTTATAAATGTAAAGGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT mutant NA NA NA NA NA 202 1489 1 0.9977975 0.9988987 0.9821149 0.9921606 0.9837952 0.9896878 NA NA 0.01620484 0.00810965 0.9871378 0.9867415 NA 0.01215724 NA FALSE NA 0 0.046 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 47/64 1 NA CTT T,C 8.238e-06 1:102915729 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001718712 intron_variant -0.23004 0.14769 0.07155 0.061011 0.3586625 0.0828739 0.9999806 TRUE 4.27961e-06 ENSE00001718712_BRK ENSE00001718712 BRK 1 103381134 103381303 - 53 54 63 A,G; T,T NA NA NA GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATTTGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCCCAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT 102915577 102915747 NA NA NA NA NA NA GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATTTGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCCCAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT GAATTTTATAAATGTAAAAGATCATCTCTGTATTCTAATACTAATTTGATCTTCTCTATATAGGGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGCGTAAGTACTGTGTTATTGTTAACATAGTGTATTATTGGTTTGGGAATTTCTTT control 150 362 0 0 0 436 871 0.1086741 0.01648277 0.06257843 0.9821149 0.9921606 0.9837952 0.9896878 -0.9821149 -0.9921606 -0.8751211 -0.9732051 0.9871378 0.9867415 -0.9871378 -0.9241631 0.06297469 TRUE TRUE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001718712 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001719634_000 ENSE00001719634 000 19 17120042 17120211 - 71 18 81 NA NA NA NA NA ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 NA NA NA NA NA NA ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT natural 185 181 0.9954676 0.9930163 0.994242 1633 2433 0.7678775 0.8692615 0.8185695 0.9954676 0.9930163 0.7678775 0.8692615 0 0 0 0 0.994242 0.8185695 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001719634 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001719634_010 ENSE00001719634 010 19 17120042 17120211 - 71 18 81 C T 17120089 1544 123 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCAGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009278 17009279 17009279 downstr_intron 24 1.342857 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCAGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 154 596 1 0.98677 0.993385 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2321225 0.1175085 0.994242 0.8185695 NA 0.1748155 NA FALSE NA 0 -3.034 NA NA NA CPAMD8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPAMD8 NA NA NA ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.547305 0.07804 0.0011 0.053691 0.6722762 0.0533499 2.018015e-14 FALSE 8.12334e-06 ENSE00001719634_BRK ENSE00001719634 BRK 19 17120042 17120211 - 71 18 81 A,G; T,T NA NA NA ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACTTCTGGAAGCCTACATCCTGCCGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 NA NA NA NA NA NA ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACTTCTGGAAGCCTACATCCTGCCGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT control 130 310 0 0 0 1131 129 0.009184975 0.1267301 0.06795752 0.9954676 0.9930163 0.7678775 0.8692615 -0.9954676 -0.9930163 -0.7586925 -0.7425314 0.994242 0.8185695 -0.994242 -0.750612 0.24363 TRUE TRUE NA NA NA NA NA CPAMD8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPAMD8 NA NA NA ENSG00000160111 ENSE00001719634 NA NA NA NA NA NA NA 2.018015e-14 FALSE NA ENSE00001720261_000 ENSE00001720261 000 9 332348 332517 + 50 81 39 NA NA NA NA NA TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 NA NA NA NA NA NA TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG natural NA NA NA NA NA 188 1465 0.9082742 0.9989242 0.9535992 NA NA 0.9082742 0.9989242 NA NA 0 0 NA 0.9535992 NA 0 NA FALSE NA NA NA NA NA NA DOCK8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK8 NA NA NA ENSG00000107099 ENSE00003656987 NA NA NA NA NA NA NA 0.000135434 FALSE NA ENSE00001720261_005 ENSE00001720261 005 9 332348 332517 + 50 81 39 A T 332378 5 31 TTTATGGATGTAATTTATGTGCCTTATTTTTATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 332377 332378 332378 upstr_intron -20 -0.38 TTTATGGATGTAATTTATGTGCCTTATTTTTATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG mutant NA NA NA NA NA 76 36 1 1 1 NA NA 0.9082742 0.9989242 NA NA 0.09172579 0.001075754 NA 0.9535992 NA 0.04640077 NA FALSE NA 0 -0.093 . intron_variant&non_coding_transcript_variant MODIFIER DOCK8 HGNC 19191 ENST00000382341 8/12 1 NA TAA A,T 8.237e-06 9:332378 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003656987 intron_variant -0.615002 0.2215 0.06519 0.322412 0.4457343 0.0443366 0.000135434 FALSE 4.08931e-06 ENSE00001720261_007 ENSE00001720261 007 9 332348 332517 + 50 81 39 A T 332381 7 34 TTTATGGATGTAATTTATGTGCCTTATTTTAATTTTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 332380 332381 332381 upstr_intron -17 -0.32 TTTATGGATGTAATTTATGTGCCTTATTTTAATTTTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG mutant NA NA NA NA NA 363 414 0.9943837 0.9996178 0.9970008 NA NA 0.9082742 0.9989242 NA NA 0.0861095 0.0006935527 NA 0.9535992 NA 0.04340153 NA FALSE NA 0 -0.612 NA NA NA DOCK8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:332381 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003656987 intron_variant -0.783655 0.22125 0.14069 0.322412 0.4265752 0.0443366 0.000135434 FALSE 1.22414e-05 ENSE00001720261_008 ENSE00001720261 008 9 332348 332517 + 50 81 39 A G 332403 8 56 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAGAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 332402 332403 332403 exon 6 0.07407407 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAGAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG mutant NA NA NA NA NA 18 126 1 1 1 NA NA 0.9082742 0.9989242 NA NA 0.09172579 0.001075754 NA 0.9535992 NA 0.04640077 NA FALSE NA 1 1.884 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK8 HGNC 19191 ENST00000382341 9/13 1 NA AAA A,G 2.471e-05 9:332403 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003656987 synonymous_variant 0.233371 0.96968 0.8703 0.562547 0.5416649 0 0.000135434 FALSE 2.84463e-05 ENSE00001720261_009 ENSE00001720261 009 9 332348 332517 + 50 81 39 A G 332421 9 74 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGGGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 332420 332421 332421 exon 24 0.2962963 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGGGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG mutant NA NA NA NA NA 234 113 1 1 1 NA NA 0.9082742 0.9989242 NA NA 0.09172579 0.001075754 NA 0.9535992 NA 0.04640077 NA FALSE NA 0.995 0.791 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK8 HGNC 19191 ENST00000382341 9/13 1 NA GAG A,G 8.236e-06 9:332421 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003656987 synonymous_variant 0.737617 0.98017 0.86938 0.562547 0.7416496 0 0.000135434 FALSE 8.12453e-06 ENSE00001720261_018 ENSE00001720261 018 9 332348 332517 + 50 81 39 A C 332463 18 116 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGACAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 332462 332463 332463 exon -16 0.8148148 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGACAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG mutant NA NA NA NA NA 102 179 0.9449488 0.9859882 0.9654685 NA NA 0.9082742 0.9989242 NA NA 0.03667463 -0.01293609 NA 0.9535992 NA 0.01186927 NA FALSE NA 0.998 1.338 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK8 HGNC 19191 ENST00000382341 9/13 1 NA AAA A,C 8.236e-06 9:332463 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003656987 missense_variant 3.370309 0.98014 0.98059 0.706548 0.9966395 0 0.000135434 FALSE 4.06184e-06 ENSE00001720261_020 ENSE00001720261 020 9 332348 332517 + 50 81 39 A G 332468 20 121 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGGTGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 332467 332468 332468 exon -11 0.8765432 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGGTGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG mutant NA NA NA NA NA 482 1096 0.9987985 0.9998557 0.9993271 NA NA 0.9082742 0.9989242 NA NA 0.0905243 0.000931428 NA 0.9535992 NA 0.04572786 NA FALSE NA 1 8.93 rs180928267 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK8 HGNC 19191 ENST00000382341 9/13 rs180928267 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GAT A,G 1.647e-05 9:332468 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003656987 missense_variant 6.087683 0.99514 0.99792 0.706548 0.9959866 0 0.000135434 FALSE 1.21859e-05 ENSE00001720261_021 ENSE00001720261 021 9 332348 332517 + 50 81 39 T C 332472 21 125 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGCGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 332471 332472 332472 exon -7 0.9259259 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGCGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG mutant NA NA NA NA NA 77 42 1 1 1 NA NA 0.9082742 0.9989242 NA NA 0.09172579 0.001075754 NA 0.9535992 NA 0.04640077 NA FALSE NA 0.189 -0.28 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK8 HGNC 19191 ENST00000382341 9/13 rs370564355 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0011 C:0 GTG T,C 6.589e-05 9:332472 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003656987 synonymous_variant 0.219455 0.96563 0.81083 0.706548 0.6982218 0 0.000135434 FALSE 6.49963e-05 ENSE00001720261_024 ENSE00001720261 024 9 332348 332517 + 50 81 39 G T 332479 24 132 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGTTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG 332347 332517 332478 332479 332479 downstr_intron 1 1.026316 TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGTTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG TTTATGGATGTAATTTATGTGCCTTATTTTAATATTCTTTTTATTGGTAGATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGGTATGGTAATTTGAGTGTTGTTAAATGGAGACATCTTAG mutant NA NA NA NA NA 12 50 0 0.007399449 0.003699724 NA NA 0.9082742 0.9989242 NA NA -0.9082742 -0.9915248 NA 0.9535992 NA -0.9498995 NA TRUE NA 1 9.392 NA NA NA DOCK8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:332479 DOCK8 HGNC Symbol protein_coding 250405 ENSG00000107099 ENSE00003656987 splice_donor_variant 5.290785 0.9961 0.99822 0.295142 0.99564 0.982663 0.000135434 FALSE 4.06279e-06 ENSE00001720724_000 ENSE00001720724 000 20 34806751 34806920 + 47 87 36 NA NA NA NA NA GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 NA NA NA NA NA NA GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC natural 1867 2931 0.8471446 0.842138 0.8446413 1530 2910 0.7923894 0.8282027 0.810296 0.8471446 0.842138 0.7923894 0.8282027 0 0 0 0 0.8446413 0.810296 0 0 0 FALSE FALSE NA NA NA NA NA EPB41L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L1 NA NA NA ENSG00000088367 ENSE00001720724 NA NA NA NA NA NA NA 0.6453861 FALSE NA ENSE00001720724_001 ENSE00001720724 001 20 34806751 34806920 + 47 87 36 G A 34806763 908 13 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTTAGCCGGGTGGGC 36218828 36218998 36218840 36218841 36218841 upstr_intron -35 -0.7234043 GCCCACCCGGCTAAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 94 573 0.8 0.937114 0.868557 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.007610597 0.1089113 0.8446413 0.810296 NA 0.05826096 NA FALSE NA 0.994 1.855 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA TGA G,A 8.237e-06 20:36218841 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 intron_variant 2.10588 0.96114 0.89916 0.074636 0.7973721 0.354922 0.6453861 FALSE NA ENSE00001720724_002 ENSE00001720724 002 20 34806751 34806920 + 47 87 36 G A 34806765 909 15 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTTTCAGCCGGGTGGGC 36218828 36218998 36218842 36218843 36218843 upstr_intron -33 -0.6808511 GCCCACCCGGCTGAAAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 509 2160 0.9002541 0.8044307 0.8523424 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.1078647 -0.02377198 0.8446413 0.810296 NA 0.04204636 NA FALSE NA 1 1.803 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA AGA G,A 1.647e-05 20:36218843 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 intron_variant 2.462084 0.97848 0.89133 0.074636 0.8242312 0.954413 0.6453861 FALSE 8.24729e-06 ENSE00001720724_005 ENSE00001720724 005 20 34806751 34806920 + 47 87 36 C T 34806783 912 33 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAATGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218860 36218861 36218861 upstr_intron -15 -0.2978723 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCATTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 884 424 0.9474785 0.9103937 0.9289361 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.1550891 0.08219108 0.8446413 0.810296 NA 0.1186401 NA FALSE NA 0.997 2.035 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA ACT C,T 8.237e-06 20:36218861 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 intron_variant 2.466958 0.95613 0.79044 0.074636 0.8647307 0.87713 0.6453861 FALSE 8.169e-06 ENSE00001720724_006 ENSE00001720724 006 20 34806751 34806920 + 47 87 36 A G 34806785 913 35 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAACAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218862 36218863 36218863 upstr_intron -13 -0.2553191 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTGTTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 43 239 0.8 0.8 0.8 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.007610597 -0.02820266 0.8446413 0.810296 NA -0.01029603 NA FALSE NA 1 1.197 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA TAT A,G 8.237e-06 20:36218863 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 intron_variant 2.452575 0.94242 0.26743 0.074636 0.7712036 0.434522 0.6453861 FALSE 8.1634e-06 ENSE00001720724_008 ENSE00001720724 008 20 34806751 34806920 + 47 87 36 G C 34806788 915 38 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAAGAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218865 36218866 36218866 upstr_intron -10 -0.1914894 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTCTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 161 526 0.998973 0.9722153 0.9855941 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.2065836 0.1440126 0.8446413 0.810296 NA 0.1752981 NA FALSE NA 1 2.594 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA TGT G,C 8.236e-06 20:36218866 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 intron_variant 2.165546 0.96583 0.77933 0.074636 0.7955278 0.841263 0.6453861 FALSE 4.08003e-06 ENSE00001720724_010 ENSE00001720724 010 20 34806751 34806920 + 47 87 36 A C 34806804 917 54 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACGGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218881 36218882 36218882 exon 7 0.08045977 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACCGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 55 268 1 0.9696736 0.9848368 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.2076106 0.1414709 0.8446413 0.810296 NA 0.1745408 NA FALSE NA 1 3.525 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA CAG A,C 8.236e-06 20:36218882 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 2.130242 0.97644 0.9426 0.693126 0.9973576 0 0.6453861 FALSE 4.07239e-06 ENSE00001720724_011 ENSE00001720724 011 20 34806751 34806920 + 47 87 36 G A 34806805 918 55 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGATTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218882 36218883 36218883 exon 8 0.09195402 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAATCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 22 63 0.8 0.8 0.8 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.007610597 -0.02820266 0.8446413 0.810296 NA -0.01029603 NA FALSE NA 1 2.886 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:36218883 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 2.436153 0.97852 0.91716 0.693126 0.9960208 0 0.6453861 FALSE 9.36551e-05 ENSE00001720724_012 ENSE00001720724 012 20 34806751 34806920 + 47 87 36 G C 34806805 919 55 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGAGTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218882 36218883 36218883 exon 8 0.09195402 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACACTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 53 86 0.95 0.8134777 0.8817389 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.1576106 -0.01472496 0.8446413 0.810296 NA 0.07144282 NA FALSE NA 1 2.886 NA NA NA EPB41L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L1 NA NA NA ENSG00000088367 ENSE00001720724 missense_variant 2.091223 0.97961 0.94229 0.693126 0.9636914 0 0.6453861 FALSE 4.07196e-06 ENSE00001720724_013 ENSE00001720724 013 20 34806751 34806920 + 47 87 36 C G 34806815 920 65 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCCGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218892 36218893 36218893 exon 18 0.2068966 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCGGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 36 133 0.008474762 0 0.004237381 0.8471446 0.842138 0.7923894 0.8282027 NA NA -0.7839146 -0.8282027 0.8446413 0.810296 NA -0.8060587 NA TRUE NA 1 1.972 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 COSM3545842 1 NA CCG C,G 8.236e-06 20:36218893 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 synonymous_variant 2.20028 0.96767 0.85431 0.693126 0.7802994 0 0.6453861 FALSE 8.14558e-06 ENSE00001720724_014 ENSE00001720724 014 20 34806751 34806920 + 47 87 36 G A 34806816 921 66 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCTGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218893 36218894 36218894 exon 19 0.2183908 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCAGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 215 142 0.9591944 0.9683158 0.9637551 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.166805 0.1401132 0.8446413 0.810296 NA 0.1534591 NA FALSE NA 1 5.4 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 rs373110371 1 NA A:0.0002 A:0 CGG G,A 2.471e-05 20:36218894 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 5.336377 0.97852 0.96153 0.693126 0.9989739 0 0.6453861 FALSE 2.4424e-05 ENSE00001720724_017 ENSE00001720724 017 20 34806751 34806920 + 47 87 36 C G 34806839 924 89 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGCATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218916 36218917 36218917 exon 42 0.4827586 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATGCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 1170 206 0.9703492 0.9492436 0.9597964 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.1779598 0.121041 0.8446413 0.810296 NA 0.1495004 NA FALSE NA 1 1.101 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA TCC C,G 8.236e-06 20:36218917 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 4.337164 0.96109 0.89072 0.693126 0.995644 0 0.6453861 FALSE 4.06501e-06 ENSE00001720724_020 ENSE00001720724 020 20 34806751 34806920 + 47 87 36 T C 34806856 927 106 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCGCCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218933 36218934 36218934 exon -29 0.6781609 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGCGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 310 569 0.9940554 0.9853368 0.9896961 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.201666 0.1571341 0.8446413 0.810296 NA 0.1794001 NA FALSE NA 1 3.772 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA GTG T,C 8.236e-06 20:36218934 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 1.299831 0.97013 0.92018 0.693126 0.9960394 0 0.6453861 FALSE 8.13286e-06 ENSE00001720724_021 ENSE00001720724 021 20 34806751 34806920 + 47 87 36 A G 34806861 928 111 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGCGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218938 36218939 36218939 exon -24 0.7356322 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCGCGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 224 501 0.9383372 0.9324895 0.9354133 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.1459478 0.1042869 0.8446413 0.810296 NA 0.1251173 NA FALSE NA 1 3.597 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 rs199993775 1 NA G:0 G:0.0001 CAC A,G 0.0005848 20:36218939 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 1.025766 0.97184 0.92902 0.693126 0.940668 0 0.6453861 FALSE 0.000691355 ENSE00001720724_022 ENSE00001720724 022 20 34806751 34806920 + 47 87 36 C T 34806862 929 112 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCATGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218939 36218940 36218940 exon -23 0.7471264 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCATGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 448 847 0.8003596 0.8007672 0.8005634 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.007970214 -0.02743543 0.8446413 0.810296 NA -0.009732607 NA FALSE NA 1 4.3 rs141631788 intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 rs141631788 1 NA T:0.0002 T:0.0001 ACG C,T 8.236e-06 20:36218940 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 5.545693 0.97345 0.9347 0.693126 0.9985951 0 0.6453861 FALSE 8.13458e-06 ENSE00001720724_023 ENSE00001720724 023 20 34806751 34806920 + 47 87 36 G A 34806863 930 113 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCTGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218940 36218941 36218941 exon -22 0.7586207 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACAGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 80 30 0.7738601 0.808357 0.7911085 0.8471446 0.842138 0.7923894 0.8282027 NA NA -0.01852934 -0.01984564 0.8446413 0.810296 NA -0.01918749 NA FALSE NA 1 1.463 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 COSM1026352 1 NA CGG G,A 3.295e-05 20:36218941 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 synonymous_variant 2.158757 0.95758 0.66498 0.693126 0.6834842 0 0.6453861 FALSE 1.62701e-05 ENSE00001720724_024 ENSE00001720724 024 20 34806751 34806920 + 47 87 36 C T 34806870 931 120 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACAGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218947 36218948 36218948 exon -15 0.8390805 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCTGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 44 1183 0.7532542 0.8002137 0.776734 0.8471446 0.842138 0.7923894 0.8282027 NA NA -0.03913518 -0.02798891 0.8446413 0.810296 NA -0.03356204 NA FALSE NA 1 4.3 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA CCG C,T 1.647e-05 20:36218948 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 4.93058 0.97345 0.9347 0.693126 0.9977308 0 0.6453861 FALSE 1.22088e-05 ENSE00001720724_025 ENSE00001720724 025 20 34806751 34806920 + 47 87 36 G A 34806871 932 121 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAATGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218948 36218949 36218949 exon -14 0.8505747 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCATTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 384 24 0.8326515 0.8060253 0.8193384 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.04026214 -0.02217741 0.8446413 0.810296 NA 0.009042367 NA FALSE NA 1 2.075 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA CGT G,A 8.236e-06 20:36218949 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 4.214199 0.97402 0.86224 0.693126 0.9995063 0 0.6453861 FALSE 4.06977e-06 ENSE00001720724_026 ENSE00001720724 026 20 34806751 34806920 + 47 87 36 C G 34806880 933 130 GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTACCGGACAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218957 36218958 36218958 exon -5 0.954023 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTGTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 394 52 0.8 0.8 0.8 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.007610597 -0.02820266 0.8446413 0.810296 NA -0.01029603 NA FALSE NA 1 4.3 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 rs377739207 1 NA G:0 G:0.0001 TCT C,G 8.237e-06 20:36218958 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 missense_variant 5.954517 0.9748 0.94595 0.693126 0.9899877 0 0.6453861 FALSE 4.07305e-06 ENSE00001720724_028 ENSE00001720724 028 20 34806751 34806920 + 47 87 36 G A 34806893 935 143 GGAGTCCCCTAGCCTGAGCTGGCCTTGTCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218970 36218971 36218971 downstr_intron 9 1.257143 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGACAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 147 293 0.9873049 0.9670583 0.9771816 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.1949155 0.1388556 0.8446413 0.810296 NA 0.1668856 NA FALSE NA 1 0.553 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 rs578092687 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGC G,A 1.647e-05 20:36218971 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 intron_variant 2.506173 0.95788 0.68418 0.061011 0.8782486 0.435603 0.6453861 FALSE NA ENSE00001720724_029 ENSE00001720724 029 20 34806751 34806920 + 47 87 36 G A 34806897 936 147 GGAGTCCCCTAGCCTGAGCTGGCTTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218974 36218975 36218975 downstr_intron 13 1.371429 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAAGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 583 142 0.8374831 0.801017 0.8192501 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.04509372 -0.02718563 0.8446413 0.810296 NA 0.008954046 NA FALSE NA 0.997 0.096 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA AGG G,A 8.237e-06 20:36218975 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 intron_variant 2.487239 0.94611 0.66257 0.061011 0.9003302 0.431468 0.6453861 FALSE 4.10038e-06 ENSE00001720724_030 ENSE00001720724 030 20 34806751 34806920 + 47 87 36 G A 34806907 937 157 GGAGTCCCCTAGCTTGAGCTGGCCTTGCCCACTTACCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCCTGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 36218984 36218985 36218985 downstr_intron 23 1.657143 GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAAGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC mutant NA NA NA NA NA 628 739 0.8048642 0.7865917 0.795728 0.8471446 0.842138 0.7923894 0.8282027 NA NA 0.01247478 -0.04161093 0.8446413 0.810296 NA -0.01456807 NA FALSE NA 1 2.284 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 1/4 1 NA AGG G,A 8.238e-06 20:36218985 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00001720724 intron_variant 2.497502 0.9574 0.8043 0.061011 0.8834616 0.425916 0.6453861 FALSE 1.23842e-05 ENSE00001720724_BRK ENSE00001720724 BRK 20 34806751 34806920 + 47 87 36 A,G; T,T NA NA NA GGAGTCCCCTAGCCTGAGCTGGCCTTGCCCACTTGGCGGAGAAAGAGAACGGATTTCCGTGGCCACCGTCTGTGGGCCTGGGATCATGGCAGCTGCCCCCTTCCCGGACTTGAGACTGTTCTCAAGGGGAAACAATAGTGCTCAGATGGCCAGCTCTCAGCCGGGTGGGC 36218828 36218998 NA NA NA NA NA NA GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCTTGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGCCAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC GCCCACCCGGCTGAGAGCTGGCCATCTGAGCACTATTGTTTCCCCAGGAGAACAGTCTCAAGTCCGGGAAGGGGGCAGCTGCCATGATCCCAGGCCCACAGACGGTGGCCACGGAAATCCGTTCTCTTTCTCCGGTAAGTGGGCAAGGCCAGCTCAGGCTAGGGGACTCC control 127 153 0 0 0 NA NA NA NA NA 0.8471446 0.842138 0.7923894 0.8282027 -0.8471446 -0.842138 NA NA 0.8446413 0.810296 -0.8446413 NA NA NA TRUE NA NA NA NA NA EPB41L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L1 NA NA NA ENSG00000088367 ENSE00001720724 NA NA NA NA NA NA NA 0.6453861 FALSE NA ENSE00001721018_000 ENSE00001721018 000 4 114170879 114171048 + 41 99 30 NA NA NA NA NA TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTGCACGAAGTGGGCATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA 113249722 113249892 NA NA NA NA NA NA TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTGCACGAAGTGGGCATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTGCACGAAGTGGGCATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA natural NA NA NA NA NA 917 1397 0.9996404 0.9902611 0.9949508 NA NA 0.9996404 0.9902611 NA NA 0 0 NA 0.9949508 NA 0 NA FALSE NA NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002527325 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001721018_006 ENSE00001721018 006 4 114170879 114171048 + 41 99 30 G A 114170947 1378 69 TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTACACGAAGTGGGCATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA 113249722 113249892 113249790 113249791 113249791 exon 28 0.2828283 TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTACACGAAGTGGGCATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTGCACGAAGTGGGCATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA mutant NA NA NA NA NA 114 175 1 1 1 NA NA 0.9996404 0.9902611 NA NA 0.0003595801 0.009738903 NA 0.9949508 NA 0.005049241 NA FALSE NA 1 9.873 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 11/47 rs565267150 1 deleterious(0) probably_damaging(0.989) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 8.236e-06 4:113249791 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002527325 missense_variant 6.467988 0.99612 0.99184 0.706298 0.9992033 0 1 TRUE 4.06686e-06 ENSE00001721018_007 ENSE00001721018 007 4 114170879 114171048 + 41 99 30 G A 114170958 1379 80 TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTGCACGAAGTGGACATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA 113249722 113249892 113249801 113249802 113249802 exon 39 0.3939394 TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTGCACGAAGTGGACATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA TTGAAGTGAACTTGGGCCTAATTCTTTAATTCTTTTGGCAGGATGGGTTGACACCACTTCACTGTGCTGCACGAAGTGGGCATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGGTGAGTCATTATGAGTAAGATGGGGTCCTA mutant NA NA NA NA NA 25 629 1 1 1 NA NA 0.9996404 0.9902611 NA NA 0.0003595801 0.009738903 NA 0.9949508 NA 0.005049241 NA FALSE NA 0.056 -0.552 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 11/47 1 NA GGC G,A 8.236e-06 4:113249802 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002527325 synonymous_variant 1.461297 0.93669 0.15517 0.706298 0.6169013 0 1 TRUE 4.06802e-06 ENSE00001721489_000 ENSE00001721489 000 15 41108330 41108499 - 38 84 48 NA NA NA NA NA CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 NA NA NA NA NA NA AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG natural 272 257 0.8453658 0.8501609 0.8477634 2683 5221 0.9139973 0.8778877 0.8959425 0.8453658 0.8501609 0.9139973 0.8778877 0 0 0 0 0.8477634 0.8959425 0 0 0 FALSE FALSE NA NA NA NA NA PPP1R14D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R14D NA NA NA ENSG00000166143 ENSE00003503334 NA NA NA NA NA NA NA 0.03034165 FALSE NA ENSE00001721489_001 ENSE00001721489 001 15 41108330 41108499 - 38 84 48 A T 41108341 506 159 CCCACTGACCCTAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816142 40816143 40816143 downstr_intron 27 1.72973 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTAGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 766 131 0.9971723 0.9633596 0.980266 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.08317505 0.08547194 0.8477634 0.8959425 NA 0.08432349 NA FALSE NA 0.003 1.068 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 3/4 rs376299491 1 NA T:0 T:0.0001 CAA A,T 8.236e-06 15:40816143 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant 0.126883 0.19614 0.13284 0.088506 0.6425305 0.0678893 0.03034165 FALSE 4.06398e-06 ENSE00001721489_002 ENSE00001721489 002 15 41108330 41108499 - 38 84 48 C G 41108345 507 155 CCCACTGACCCAAGGGCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816146 40816147 40816147 downstr_intron 23 1.621622 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGCCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 28 280 0.8729145 0.9002594 0.886587 0.8453658 0.8501609 0.9139973 0.8778877 NA NA -0.04108283 0.02237179 0.8477634 0.8959425 NA -0.00935552 NA FALSE NA 0 0.416 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 3/4 rs199954027 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GCC C,G 1.647e-05 15:40816147 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant -0.098666 0.17739 0.10148 0.088506 0.6032949 0.0678893 0.03034165 FALSE 1.21931e-05 ENSE00001721489_003 ENSE00001721489 003 15 41108330 41108499 - 38 84 48 G T 41108348 508 152 CCCACTGACCCAAGGCCATCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816149 40816150 40816150 downstr_intron 20 1.540541 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGATGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 538 299 0.9996169 0.9893432 0.99448 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.08561961 0.1114555 0.8477634 0.8959425 NA 0.09853756 NA FALSE NA 0 -0.301 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 3/4 1 NA AGC G,T 8.236e-06 15:40816150 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant -0.01332 0.18439 0.02646 0.106106 0.7005645 0.0759772 0.03034165 FALSE 4.06326e-06 ENSE00001721489_004 ENSE00001721489 004 15 41108330 41108499 - 38 84 48 C T 41108349 509 151 CCCACTGACCCAAGGCCAGTTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816150 40816151 40816151 downstr_intron 19 1.513514 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAACTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 281 360 0.9994542 0.9911105 0.9952823 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.08545692 0.1132228 0.8477634 0.8959425 NA 0.09933986 NA FALSE NA 0.001 0.309 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 3/4 1 NA GCT C,T 8.236e-06 15:40816151 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant 0.503539 0.25357 0.06308 0.106106 0.6489443 0.0759772 0.03034165 FALSE 4.06276e-06 ENSE00001721489_005 ENSE00001721489 005 15 41108330 41108499 - 38 84 48 T C 41108351 510 149 CCCACTGACCCAAGGCCAGCTCCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816152 40816153 40816153 downstr_intron 17 1.459459 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGGAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 36 162 0.7528982 0.85 0.8014491 85 1004 0.9981922 0.9725537 0.985373 0.8453658 0.8501609 0.9139973 0.8778877 -0.09246757 -0.0001609096 0.08419494 0.09466606 0.8477634 0.8959425 -0.04631424 0.0894305 0.1357447 FALSE FALSE 0.001 0.248 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 3/4 1 NA TTC T,C 8.236e-06 15:40816153 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant 0.438032 0.44858 0.06461 0.106106 0.8539931 0.0759772 0.03034165 FALSE 4.06243e-06 ENSE00001721489_006 ENSE00001721489 006 15 41108330 41108499 - 38 84 48 T C 41108353 511 147 CCCACTGACCCAAGGCCAGCTTCCAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816154 40816155 40816155 downstr_intron 15 1.405405 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTGGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 15 14 0.8925585 1 0.9462792 0.8453658 0.8501609 0.9139973 0.8778877 NA NA -0.02143881 0.1221123 0.8477634 0.8959425 NA 0.05033676 NA FALSE NA 0 -0.258 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 3/4 1 NA CTA T,C 0.0003459 15:40816155 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant 0.464961 0.6168 0.00366 0.106106 0.8325208 0.0759772 0.03034165 FALSE 0.00040624 ENSE00001721489_007 ENSE00001721489 007 15 41108330 41108499 - 38 84 48 C T 41108358 512 142 CCCACTGACCCAAGGCCAGCTTCTAGCCTCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816159 40816160 40816160 downstr_intron 10 1.27027 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGAGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 36 26 0.8346226 0.85 0.8423113 NA NA NA NA NA 0.8453658 0.8501609 0.9139973 0.8778877 -0.0107432 -0.0001609096 NA NA 0.8477634 0.8959425 -0.005452057 NA NA NA FALSE 0 0.174 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 3/4 1 NA CCC C,T 8.236e-06 15:40816160 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant 0.884139 0.70722 0.12493 0.106106 0.7020701 0.141199 0.03034165 FALSE 8.1246e-06 ENSE00001721489_008 ENSE00001721489 008 15 41108330 41108499 - 38 84 48 C G 41108370 513 130 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTGCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816171 40816172 40816172 exon -3 0.9761905 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGCAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 26 41 0.9964821 0.9898481 0.9931651 NA NA NA NA NA 0.8453658 0.8501609 0.9139973 0.8778877 0.1511163 0.1396872 NA NA 0.8477634 0.8959425 0.1454017 NA NA NA FALSE 1 0.879 . missense_variant&splice_region_variant MODERATE PPP1R14D HGNC 14953 ENST00000427255 3/5 1 deleterious_low_confidence(0) possibly_damaging(0.759) NA TCC C,G 8.236e-06 15:40816172 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant 5.943397 0.95225 0.55454 0.475973 0.9789329 0 0.03034165 FALSE 8.12354e-06 ENSE00001721489_009 ENSE00001721489 009 15 41108330 41108499 - 38 84 48 G C 41108376 514 124 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTCAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816177 40816178 40816178 exon -9 0.9047619 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTGAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 11 17 0.9473798 0.9474496 0.9474147 NA NA NA NA NA 0.8453658 0.8501609 0.9139973 0.8778877 0.102014 0.09728871 NA NA 0.8477634 0.8959425 0.09965135 NA NA NA FALSE 0.998 2.017 . synonymous_variant LOW PPP1R14D HGNC 14953 ENST00000427255 3/5 1 NA TGA G,C 8.236e-06 15:40816178 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant 0.529993 0.49417 0.6357 0.475973 0.9623647 0 0.03034165 FALSE 4.06161e-06 ENSE00001721489_010 ENSE00001721489 010 15 41108330 41108499 - 38 84 48 C A 41108380 515 120 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTATTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816181 40816182 40816182 exon -13 0.8571429 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAATACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 101 161 0.7937523 0.85 0.8218762 296 41 0.8217193 0.8319561 0.8268377 0.8453658 0.8501609 0.9139973 0.8778877 -0.05161346 -0.0001609096 -0.09227798 -0.0459316 0.8477634 0.8959425 -0.02588719 -0.06910479 0.0432176 FALSE FALSE 1 1.366 . missense_variant MODERATE PPP1R14D HGNC 14953 ENST00000427255 3/5 1 deleterious_low_confidence(0.02) benign(0.308) NA TCT C,A 8.236e-06 15:40816182 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant 3.839401 0.95904 0.77095 0.475973 0.9756276 0 0.03034165 FALSE 4.06141e-06 ENSE00001721489_011 ENSE00001721489 011 15 41108330 41108499 - 38 84 48 C T 41108383 516 117 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTTTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816184 40816185 40816185 exon -16 0.8214286 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAAAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 127 161 0.85 0.85 0.85 NA NA NA NA NA 0.8453658 0.8501609 0.9139973 0.8778877 0.004634196 -0.0001609096 NA NA 0.8477634 0.8959425 0.002236643 NA NA NA FALSE 1 1.41 . missense_variant MODERATE PPP1R14D HGNC 14953 ENST00000427255 3/5 1 tolerated_low_confidence(0.26) benign(0.067) NA TCT C,T 8.236e-06 15:40816185 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant 2.456338 0.95595 0.65996 0.475973 0.98039 0 0.03034165 FALSE 4.06141e-06 ENSE00001721489_012 ENSE00001721489 012 15 41108330 41108499 - 38 84 48 G A 41108396 517 104 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGAATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816197 40816198 40816198 exon -29 0.6666667 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATTCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 138 226 1 0.9427908 0.9713954 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.0860027 0.06490312 0.8477634 0.8959425 NA 0.07545291 NA FALSE NA 1 5.683 . missense_variant MODERATE PPP1R14D HGNC 14953 ENST00000427255 3/5 1 deleterious_low_confidence(0.02) possibly_damaging(0.641) NA GGA G,A 8.236e-06 15:40816198 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant 4.379015 0.97812 0.93822 0.475973 0.99124 0 0.03034165 FALSE NA ENSE00001721489_014 ENSE00001721489 014 15 41108330 41108499 - 38 84 48 C A 41108403 519 97 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATACATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816204 40816205 40816205 exon -36 0.5833333 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGTATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 222 301 0.8450461 0.85 0.847523 NA NA NA NA NA 0.8453658 0.8501609 0.9139973 0.8778877 -0.000319719 -0.0001609096 NA NA 0.8477634 0.8959425 -0.0002403143 NA NA NA FALSE 1 4.538 . missense_variant MODERATE PPP1R14D HGNC 14953 ENST00000427255 3/5 rs370642954 1 deleterious_low_confidence(0) possibly_damaging(0.759) NA A:0.0002 A:0 TCC C,A 1.647e-05 15:40816205 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant 6.865719 0.97883 0.9288 0.475973 0.9892709 0 0.03034165 FALSE 8.12249e-06 ENSE00001721489_015 ENSE00001721489 015 15 41108330 41108499 - 38 84 48 C T 41108404 520 96 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCTATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816205 40816206 40816206 exon -37 0.5714286 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATAGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 89 125 0.85 0.85 0.85 NA NA NA NA NA 0.8453658 0.8501609 0.9139973 0.8778877 0.004634196 -0.0001609096 NA NA 0.8477634 0.8959425 0.002236643 NA NA NA FALSE 1 1.464 NA NA NA PPP1R14D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40816206 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 stop_gained 12.26506 0.96625 0.74181 0.475973 0.9936822 0 0.03034165 FALSE 0.000479223 ENSE00001721489_017 ENSE00001721489 017 15 41108330 41108499 - 38 84 48 C T 41108416 522 84 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCTAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816217 40816218 40816218 exon 36 0.4285714 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTAGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 80 152 0.8361741 0.8354378 0.835806 1054 26 0.8039676 0.8096298 0.8067987 0.8453658 0.8501609 0.9139973 0.8778877 -0.009191689 -0.01472307 -0.1100297 -0.0682579 0.8477634 0.8959425 -0.01195738 -0.08914379 0.07718641 FALSE FALSE 0.999 0.212 . stop_gained HIGH PPP1R14D HGNC 14953 ENST00000427255 3/5 1 NA HC CCA C,T 4.942e-05 15:40816218 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 stop_gained 11.97501 0.95746 0.48424 0.475973 0.9916199 0 0.03034165 FALSE 2.84276e-05 ENSE00001721489_021 ENSE00001721489 021 15 41108330 41108499 - 38 84 48 G T 41108440 526 60 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGTGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816241 40816242 40816242 exon 12 0.1428571 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACACCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 49 66 1 0.9704569 0.9852285 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.0860027 0.09256927 0.8477634 0.8959425 NA 0.08928598 NA FALSE NA 0 -0.396 NA NA NA PPP1R14D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:40816242 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant 1.677614 0.11943 0.02413 0.522611 0.9690225 0 0.03034165 FALSE 2.4373e-05 ENSE00001721489_022 ENSE00001721489 022 15 41108330 41108499 - 38 84 48 T G 41108443 527 57 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTGGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816244 40816245 40816245 exon 9 0.1071429 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCCACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 15 51 1 0.9619314 0.9809657 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.0860027 0.08404374 0.8477634 0.8959425 NA 0.08502322 NA FALSE NA 0.004 0.467 . missense_variant MODERATE PPP1R14D HGNC 14953 ENST00000427255 3/5 rs549059626 1 deleterious_low_confidence(0.01) benign(0.418) G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 TTG T,G 8.236e-06 15:40816245 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant 1.857795 0.18367 0.07334 0.522611 0.9775593 0 0.03034165 FALSE 8.12427e-06 ENSE00001721489_023 ENSE00001721489 023 15 41108330 41108499 - 38 84 48 G T 41108444 528 56 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTTCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816245 40816246 40816246 exon 8 0.0952381 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGAAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 523 101 0.9973038 1 0.9986519 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.08330649 0.1221123 0.8477634 0.8959425 NA 0.1027094 NA FALSE NA 0.008 0.767 . missense_variant MODERATE PPP1R14D HGNC 14953 ENST00000427255 3/5 1 tolerated_low_confidence(0.42) benign(0.149) NA TGC G,T 3.295e-05 15:40816246 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 missense_variant -0.065548 0.18921 0.05361 0.522611 0.9622755 0 0.03034165 FALSE 4.469e-05 ENSE00001721489_024 ENSE00001721489 024 15 41108330 41108499 - 38 84 48 A G 41108467 529 33 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACGTGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816268 40816269 40816269 upstr_intron -16 -0.3125 AGCACCAGCTGGTCAGGCCCCTCTGAGACCCACGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant 16 13 0.9715405 0.992325 0.9819328 NA NA NA NA NA 0.8453658 0.8501609 0.9139973 0.8778877 0.1261747 0.1421641 NA NA 0.8477634 0.8959425 0.1341694 NA NA NA FALSE 0.004 1.177 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 2/4 rs374066131 1 NA G:0.0002 G:0 CAT A,G 2.471e-05 15:40816269 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant 1.934702 0.16855 0.07053 0.088506 0.8903689 0.310017 0.03034165 FALSE 1.62608e-05 ENSE00001721489_027 ENSE00001721489 027 15 41108330 41108499 - 38 84 48 T A 41108474 532 26 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCACAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 40816275 40816276 40816276 upstr_intron -23 -0.4583333 AGCACCAGCTGGTCAGGCCCCTCTGTGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 13 47 0.95 1 0.975 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.0360027 0.1221123 0.8477634 0.8959425 NA 0.07905752 NA FALSE NA 0.909 1.586 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 2/4 1 NA CTC T,A 3.295e-05 15:40816276 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant 3.042493 0.9696 0.81479 0.088506 0.8934177 0.470247 0.03034165 FALSE 2.84768e-05 ENSE00001721489_029 ENSE00001721489 029 15 41108330 41108499 - 38 84 48 C T 41108488 534 12 CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTACCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCCTATTTGGAAATCACATGGGTCTCAGAGGGGCCTGATCAGCTGGTGCT 40816131 40816301 40816289 40816290 40816290 upstr_intron -37 -0.75 AGCACCAGCTGATCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG mutant NA NA NA NA NA 370 165 0.9966699 1 0.998335 0.8453658 0.8501609 0.9139973 0.8778877 NA NA 0.08267263 0.1221123 0.8477634 0.8959425 NA 0.1023925 NA FALSE NA 0 -0.659 . intron_variant MODIFIER PPP1R14D HGNC 14953 ENST00000427255 2/4 1 NA ACC C,T 8.236e-06 15:40816290 PPP1R14D HGNC Symbol protein_coding 13264 ENSG00000166143 ENSE00003503334 intron_variant 2.014401 0.17742 0.0315 0.088506 0.799504 0.326168 0.03034165 FALSE NA ENSE00001721489_BRK ENSE00001721489 BRK 15 41108330 41108499 - 38 84 48 A,G; T,T NA NA NA CCCACTGACCCAAGGCCAGCTTCTAGCCCCCATCCTGGCTCCAGCTGAGTCTTCTGCTCCTCTGTGGATAGATCCATGAGAGCTTCCAGGTCAATCTCAGGCTCAGAAGGGGTTGCTTGATCAAATTTGGAAATCACATGGGTCTCAGAGGGGCCTGACCAGCTGGTGCT 40816131 40816301 NA NA NA NA NA NA AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATTTGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGCCAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG AGCACCAGCTGGTCAGGCCCCTCTGAGACCCATGTGATTTCCAAATAGGATCAAGCAACCCCTTCTGAGCCTGAGATTGACCTGGAAGCTCTCATGGATCTATCCACAGAGGAGCAGAAGACTCAGCTGGAGGTAGGATGGGGGCTAGAAGCTGGCCTTGGGTCAGTGGG control 258 100 0.1004495 0 0.05022475 NA NA NA NA NA 0.8453658 0.8501609 0.9139973 0.8778877 -0.7449163 -0.8501609 NA NA 0.8477634 0.8959425 -0.7975386 NA NA NA TRUE NA NA NA NA NA PPP1R14D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R14D NA NA NA ENSG00000166143 ENSE00003503334 NA NA NA NA NA NA NA 0.03034165 FALSE NA ENSE00001722397_000 ENSE00001722397 000 4 114186012 114186181 + 41 99 30 NA NA NA NA NA GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 NA NA NA NA NA NA GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT natural 22 27 0.9976534 0.9681448 0.9828991 1619 963 0.8279989 0.9875992 0.907799 0.9976534 0.9681448 0.8279989 0.9875992 0 0 0 0 0.9828991 0.907799 0 0 0 FALSE FALSE NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002448541 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001722397_001 ENSE00001722397 001 4 114186012 114186181 + 41 99 30 G T 114186026 1412 15 GTGGGTTAATTTATTATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264869 113264870 113264870 upstr_intron -27 -0.6341463 GTGGGTTAATTTATTATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 322 40 1 1 1 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 0.01240077 0.9828991 0.907799 NA 0.09220096 NA FALSE NA 0.002 0.604 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 14/46 1 NA TGA G,T 1.835e-05 4:113264870 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 intron_variant 0.307393 0.20046 0.06519 0.053691 0.7904313 0.0854912 1 TRUE NA ENSE00001722397_002 ENSE00001722397 002 4 114186012 114186181 + 41 99 30 C T 114186033 1413 22 GTGGGTTAATTTATGATTTGATGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264876 113264877 113264877 upstr_intron -20 -0.4634146 GTGGGTTAATTTATGATTTGATGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 79 213 1 0.9863945 0.9931972 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 -0.001204731 0.9828991 0.907799 NA 0.08539821 NA FALSE NA 0 -2.332 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 14/46 1 NA ACG C,T 2.694e-05 4:113264877 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 intron_variant -0.233584 0.11048 0.01423 0.074636 0.6841539 0.0828292 1 TRUE NA ENSE00001722397_004 ENSE00001722397 004 4 114186012 114186181 + 41 99 30 T C 114186047 1415 36 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCCGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264890 113264891 113264891 upstr_intron -6 -0.1219512 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCCGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 45 558 1 0.9989611 0.9994805 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 0.01136184 0.9828991 0.907799 NA 0.09168149 NA FALSE NA 0.005 0.009 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000506722 14/46 rs536304475 1 C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 CTG T,C 3.464e-05 4:113264891 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 splice_region_variant 0.742956 0.4446 0.05934 0.074636 0.6187838 0.30447 1 TRUE NA ENSE00001722397_006 ENSE00001722397 006 4 114186012 114186181 + 41 99 30 G A 114186077 1417 66 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGACAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264920 113264921 113264921 exon 25 0.2525253 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGACAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 380 302 0.798592 0.9729228 0.8857574 0.9976534 0.9681448 0.8279989 0.9875992 NA NA -0.02940682 -0.01467642 0.9828991 0.907799 NA -0.02204162 NA FALSE NA 1 9.852 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 15/47 1 deleterious(0) probably_damaging(0.984) NA GGC G,A 8.46e-06 4:113264921 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 missense_variant 7.161261 0.99507 0.98975 0.706298 0.9994307 0 1 TRUE NA ENSE00001722397_007 ENSE00001722397 007 4 114186012 114186181 + 41 99 30 A G 114186079 1418 68 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCGGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264922 113264923 113264923 exon 27 0.2727273 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCGGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 48 452 1 0.9988979 0.9994489 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 0.01129865 0.9828991 0.907799 NA 0.09164989 NA FALSE NA 0 -1.925 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 15/47 1 NA CAG A,G 1.691e-05 4:113264923 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 synonymous_variant 0.869322 0.1488 0.0371 0.706298 0.5584773 0 1 TRUE 1.15849e-05 ENSE00001722397_008 ENSE00001722397 008 4 114186012 114186181 + 41 99 30 G A 114186089 1419 78 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCAGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264932 113264933 113264933 exon 37 0.3737374 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCAGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 272 32 1 0.9950252 0.9975126 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 0.007426004 0.9828991 0.907799 NA 0.08971357 NA FALSE NA 1 9.852 rs36210415 missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 15/47 rs36210415 1 deleterious(0.02) probably_damaging(0.996) NA A:0 A:0.0001 CGG G,A 3.372e-05 4:113264933 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 missense_variant 7.442575 0.99507 0.98975 0.706298 0.9993535 0 1 TRUE NA ENSE00001722397_009 ENSE00001722397 009 4 114186012 114186181 + 41 99 30 G T 114186111 1420 100 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATTCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264954 113264955 113264955 exon -41 0.5959596 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATTCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 360 410 1 0.9905095 0.9952547 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 0.002910238 0.9828991 0.907799 NA 0.08745569 NA FALSE NA 1 9.852 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 15/47 rs576018476 1 tolerated(0.51) benign(0.02) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TGC G,T 8.456e-06 4:113264955 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 missense_variant 4.980469 0.99517 0.99101 0.615465 0.965414 0 1 TRUE NA ENSE00001722397_010 ENSE00001722397 010 4 114186012 114186181 + 41 99 30 C T 114186115 1421 104 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTTCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264958 113264959 113264959 exon -37 0.6363636 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTTCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 535 900 1 0.9987213 0.9993606 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 0.01112203 0.9828991 0.907799 NA 0.09156159 NA FALSE NA 0 -1.666 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 15/47 1 NA TCC C,T 8.463e-06 4:113264959 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 synonymous_variant 2.080768 0.80447 0.08733 0.615465 0.7688903 0 1 TRUE NA ENSE00001722397_011 ENSE00001722397 011 4 114186012 114186181 + 41 99 30 G T 114186118 1422 107 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTTAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT 113264855 113265025 113264961 113264962 113264962 exon -34 0.6666667 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTTAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 789 49 0.9521853 0.9748158 0.9635006 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1241865 -0.01278341 0.9828991 0.907799 NA 0.05570154 NA FALSE NA 1 3.162 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 15/47 1 NA TGA G,T 3.394e-05 4:113264962 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 synonymous_variant 1.194134 0.97811 0.9251 0.615465 0.7745755 0 1 TRUE NA ENSE00001722397_012 ENSE00001722397 012 4 114186012 114186181 + 41 99 30 G A 114186164 1423 153 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTACCCTGAGGTTCTCTTCT 113264855 113265025 113265007 113265008 113265008 downstr_intron 13 1.448276 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTACCCTGAGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 10 30 1 1 1 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 0.01240077 0.9828991 0.907799 NA 0.09220096 NA FALSE NA 0 0.784 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 15/46 1 NA TGC G,A 9.246e-06 4:113265008 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 intron_variant 0.149719 0.24883 0.12163 0.053691 0.5468 0.0565981 1 TRUE NA ENSE00001722397_013 ENSE00001722397 013 4 114186012 114186181 + 41 99 30 A G 114186170 1424 159 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGGGGTTCTCTTCT 113264855 113265025 113265013 113265014 113265014 downstr_intron 19 1.655172 GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGGGGTTCTCTTCT GTGGGTTAATTTATGATTTGACGATCTTTGTTCCCTGGCAGCGTGGTGAGACGGCACTACACATGGCAGCCCGAGCCGGGCAGGTGGAAGTGGTCCGATGCCTCCTGAGAAATGGTGCCCTTGTTGATGCCAGAGCCAGGGTAGGTACTGGTGCCCTGAGGTTCTCTTCT mutant NA NA NA NA NA 756 144 1 1 1 0.9976534 0.9681448 0.8279989 0.9875992 NA NA 0.1720011 0.01240077 0.9828991 0.907799 NA 0.09220096 NA FALSE NA 0 -1.417 rs3025731 intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 15/46 rs3025731 1 NA G:0 G:0.0001 GAG A,G 9.457e-06 4:113265014 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002448541 intron_variant 0.041732 0.23772 0.01112 0.053691 0.2451134 0.0489722 1 TRUE 1.97182e-05 ENSE00001722461_000 ENSE00001722461 000 22 42793834 42794003 - 30 99 41 NA NA NA NA NA GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 NA NA NA NA NA NA AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC natural 32 15 0.9423735 0.9968627 0.9696181 147 371 0.9945564 1 0.9972782 0.9423735 0.9968627 0.9945564 1 0 0 0 0 0.9696181 0.9972782 0 0 0 FALSE FALSE NA NA NA NA NA NFAM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFAM1 NA NA NA ENSG00000235568 ENSE00001722461 NA NA NA NA NA NA NA 0.02607962 FALSE NA ENSE00001722461_001 ENSE00001722461 001 22 42793834 42794003 - 30 99 41 C T 42793845 1189 159 GTGGAGGGAGCTGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397838 42397839 42397839 downstr_intron 19 1.655172 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCAGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 166 82 0.9877603 1 0.9938801 0.9423735 0.9968627 0.9945564 1 NA NA -0.006796113 0 0.9696181 0.9972782 NA -0.003398057 NA FALSE NA 0 -0.897 rs35151068 intron_variant MODIFIER NFAM1 HGNC 29872 ENST00000329021 4/5 rs35151068 1 T:0.1290 T:0.2126 T:0.1988 NA T:0.001 T:0.1431 T:0.0838 T:0.2149 T:0.1553 CCG C,T 0.152 22:42397839 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 intron_variant -0.412811 0.17951 0.06224 0.114469 0.2368156 0.0712038 0.02607962 FALSE 0.151331 ENSE00001722461_003 ENSE00001722461 003 22 42793834 42794003 - 30 99 41 C T 42793854 1191 150 GTGGAGGGAGCCGGGGGCCCTGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397847 42397848 42397848 downstr_intron 10 1.344828 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCAGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 14 351 1 0.9929816 0.9964908 0.9423735 0.9968627 0.9945564 1 NA NA 0.005443618 -0.007018384 0.9696181 0.9972782 NA -0.0007873828 NA FALSE NA 0 -0.782 rs5996152 intron_variant MODIFIER NFAM1 HGNC 29872 ENST00000329021 4/5 rs5996152 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0023 T:0.0001 CCG C,T 0.0002471 22:42397848 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 intron_variant -0.142916 0.14777 0.00407 0.114469 0.7140544 0.0712038 0.02607962 FALSE 0.000163019 ENSE00001722461_004 ENSE00001722461 004 22 42793834 42794003 - 30 99 41 G A 42793855 1192 149 GTGGAGGGAGCCGGGGGCCCCAGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397848 42397849 42397849 downstr_intron 9 1.310345 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCTGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 46 958 1 1 1 0.9423735 0.9968627 0.9945564 1 NA NA 0.005443618 0 0.9696181 0.9972782 NA 0.002721809 NA FALSE NA 0 -1.161 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:42397849 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 intron_variant 0.142087 0.16462 0.01542 0.114469 0.5367739 0.062272 0.02607962 FALSE 0.000109982 ENSE00001722461_005 ENSE00001722461 005 22 42793834 42794003 - 30 99 41 G C 42793855 1193 149 GTGGAGGGAGCCGGGGGCCCCCGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397848 42397849 42397849 downstr_intron 9 1.310345 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCGGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 179 1136 0.9532241 0.9997215 0.9764728 0.9423735 0.9968627 0.9945564 1 NA NA -0.0413323 -0.0002785385 0.9696181 0.9972782 NA -0.02080542 NA FALSE NA 0 -1.161 NA NA NA NFAM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFAM1 NA NA NA ENSG00000235568 ENSE00001722461 intron_variant -0.161955 0.16 0.02085 0.114469 0.5598564 0.062272 0.02607962 FALSE 1.62937e-05 ENSE00001722461_007 ENSE00001722461 007 22 42793834 42794003 - 30 99 41 G C 42793870 1195 134 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTACACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397863 42397864 42397864 exon -7 0.9393939 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTGTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 57 251 1 0.9974712 0.9987356 0.9423735 0.9968627 0.9945564 1 NA NA 0.005443618 -0.002528776 0.9696181 0.9972782 NA 0.001457421 NA FALSE NA 0.999 1.218 . synonymous_variant LOW NFAM1 HGNC 29872 ENST00000329021 4/6 rs564179271 1 C:0.0008 C:0 C:0 NA C:0.004 C:0 C:0 AGA G,C 1.647e-05 22:42397864 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 synonymous_variant -0.006683 0.89103 0.52078 0.495158 0.5933053 0 0.02607962 FALSE 8.13378e-06 ENSE00001722461_009 ENSE00001722461 009 22 42793834 42794003 - 30 99 41 A G 42793873 1197 131 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACGGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397866 42397867 42397867 exon -10 0.9090909 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCCGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 40 19 1 1 1 0.9423735 0.9968627 0.9945564 1 NA NA 0.005443618 0 0.9696181 0.9972782 NA 0.002721809 NA FALSE NA 0 -0.549 rs5996153 synonymous_variant LOW NFAM1 HGNC 29872 ENST00000329021 4/6 rs5996153&COSM4156353 1 G:0.1288 G:0.2126 G:0.1988 NA G:0.001 G:0.1431 G:0.0828 G:0.2158 G:0.1555 CAG G,G 0.152 22:42397867 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 synonymous_variant -1.145828 0.11573 0.00142 0.495158 0.4854104 0 0.02607962 FALSE 0.151359 ENSE00001722461_014 ENSE00001722461 014 22 42793834 42794003 - 30 99 41 G A 42793887 1202 117 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATACTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397880 42397881 42397881 exon -24 0.7676768 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGTATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 39 25 1 1 1 0.9423735 0.9968627 0.9945564 1 NA NA 0.005443618 0 0.9696181 0.9972782 NA 0.002721809 NA FALSE NA 0.592 0.368 . missense_variant MODERATE NFAM1 HGNC 29872 ENST00000329021 4/6 1 deleterious(0) benign(0.008) NA TGC G,A 1.647e-05 22:42397881 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 missense_variant 1.438601 0.21527 0.11712 0.495158 0.97317 0 0.02607962 FALSE 8.14266e-06 ENSE00001722461_023 ENSE00001722461 023 22 42793834 42794003 - 30 99 41 C T 42793927 1211 77 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTTCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397920 42397921 42397921 exon 36 0.3636364 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGAAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 112 98 0.9985209 1 0.9992604 0.9423735 0.9968627 0.9945564 1 NA NA 0.003964513 0 0.9696181 0.9972782 NA 0.001982256 NA FALSE NA 0.002 1.444 . synonymous_variant LOW NFAM1 HGNC 29872 ENST00000329021 4/6 COSM3555063 1 NA TCC C 8.237e-06 22:42397921 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 synonymous_variant 0.75219 0.25466 0.07701 0.495158 0.4637411 0 0.02607962 FALSE 4.10085e-06 ENSE00001722461_025 ENSE00001722461 025 22 42793834 42794003 - 30 99 41 T C 42793929 1213 75 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCCGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397922 42397923 42397923 exon 34 0.3434343 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCGGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 410 74 0.9904926 0.9736091 0.9820509 0.9423735 0.9968627 0.9945564 1 NA NA -0.004063759 -0.02639092 0.9696181 0.9972782 NA -0.01522734 NA FALSE NA 0 -0.421 . missense_variant MODERATE NFAM1 HGNC 29872 ENST00000329021 4/6 1 tolerated(0.1) benign(0.291) NA CTG T 8.237e-06 22:42397923 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 missense_variant -0.050637 0.12224 0.02258 0.495158 0.8780059 0 0.02607962 FALSE 4.10708e-06 ENSE00001722461_028 ENSE00001722461 028 22 42793834 42794003 - 30 99 41 T A 42793937 1216 67 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGACCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397930 42397931 42397931 exon 26 0.2626263 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGTCCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 25 62 0.9822849 1 0.9911425 0.9423735 0.9968627 0.9945564 1 NA NA -0.01227145 0 0.9696181 0.9972782 NA -0.006135724 NA FALSE NA 0 -1.025 . missense_variant MODERATE NFAM1 HGNC 29872 ENST00000329021 4/6 1 tolerated(0.21) benign(0.291) NA GTC T 8.237e-06 22:42397931 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 missense_variant -0.018849 0.1406 0.02806 0.495158 0.7187588 0 0.02607962 FALSE 2.06949e-05 ENSE00001722461_029 ENSE00001722461 029 22 42793834 42794003 - 30 99 41 C T 42793938 1217 66 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTTCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397931 42397932 42397932 exon 25 0.2525253 AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGAACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 230 55 1 0.95 0.975 0.9423735 0.9968627 0.9945564 1 NA NA 0.005443618 -0.05 0.9696181 0.9972782 NA -0.02227819 NA FALSE NA 0.002 0.718 . missense_variant MODERATE NFAM1 HGNC 29872 ENST00000329021 4/6 1 tolerated(0.52) benign(0.016) NA TCC C 1.647e-05 22:42397932 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 missense_variant -0.012954 0.20508 0.02815 0.495158 0.4390026 0 0.02607962 FALSE 3.72566e-05 ENSE00001722461_037 ENSE00001722461 037 22 42793834 42794003 - 30 99 41 C A 42793981 1225 23 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTAAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 42397974 42397975 42397975 upstr_intron -19 -0.4390244 AGAGCCACTCATCCCTGGCCCTTACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 801 827 1 0.9978905 0.9989453 0.9423735 0.9968627 0.9945564 1 NA NA 0.005443618 -0.002109459 0.9696181 0.9972782 NA 0.00166708 NA FALSE NA 0.001 0.463 . intron_variant MODIFIER NFAM1 HGNC 29872 ENST00000329021 3/5 rs375741255 1 NA A:0 A:0.0001 TCA C 0.0005275 22:42397975 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 intron_variant -0.045482 0.19827 0.09019 0.119485 0.358859 0.0783037 0.02607962 FALSE 0.00044947 ENSE00001722461_038 ENSE00001722461 038 22 42793834 42794003 - 30 99 41 C T 42793987 1226 17 GTGGAGGGAGCCGGGGGCCCCGGGACTCACTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTCTGTAGGGAGAAAGGAGTCAGGGCTAGGGATGAGTGGCTCT 42397827 42397997 42397980 42397981 42397981 upstr_intron -25 -0.5853659 AGAGCCACTCATCCCTAGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC mutant NA NA NA NA NA 82 53 1 1 1 0.9423735 0.9968627 0.9945564 1 NA NA 0.005443618 0 0.9696181 0.9972782 NA 0.002721809 NA FALSE NA 0 -0.999 . intron_variant MODIFIER NFAM1 HGNC 29872 ENST00000329021 3/5 rs200200054 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0032 T:0 CCA C 0.0002308 22:42397981 NFAM1 HGNC Symbol protein_coding 51985 ENSG00000235568 ENSE00001722461 intron_variant -0.144155 0.10344 0.00241 0.119485 0.5038596 0.045028 0.02607962 FALSE 0.00022401 ENSE00001722461_BRK ENSE00001722461 BRK 22 42793834 42794003 - 30 99 41 A,G; T,T NA NA NA GTGGAGGGAGCCGGGGGCCCCGGGACTCGGTGTGTAGACAGATTCTGAAGGATGCTGCTTGGGGCTGCTGGCAGATCTTGGATCTGGGCACTTCCTGGTGGGGTCCTTCCCTGGACCCCGCATCCGCTTAAGTAGGGAGAAAGGAGTCAGGGCCAGGGATGAGTGGCTCT 42397827 42397997 NA NA NA NA NA NA AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACTTAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACACCGAGTCCCGGGGCCCCCGGCTCCCTCCAC AGAGCCACTCATCCCTGGCCCTGACTCCTTTCTCCCTACAGAAGCGGATGCGGGGTCCAGGGAAGGACCCCACCAGGAAGTGCCCAGATCCAAGATCTGCCAGCAGCCCCAAGCAGCATCCTTCAGAATCTGTCTACACAGTGAGTCCCGGGGCCCCCGGCTCCCTCCAC control NA NA NA NA NA 212 207 0 0 0 0.9423735 0.9968627 0.9945564 1 NA NA -0.9945564 -1 0.9696181 0.9972782 NA -0.9972782 NA TRUE NA NA NA NA NA NA NFAM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFAM1 NA NA NA ENSG00000235568 ENSE00001722461 NA NA NA NA NA NA NA 0.02607962 FALSE NA ENSE00001723246_000 ENSE00001723246 000 X 80064447 80064616 - 65 30 75 NA NA NA NA NA GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT 80808947 80809117 NA NA NA NA NA NA GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT natural 840 1230 0.85 0.8517694 0.8508847 865 1408 0.9536277 0.897689 0.9256584 0.85 0.8517694 0.9536277 0.897689 0 0 0 0 0.8508847 0.9256584 0 0 0 FALSE FALSE NA NA NA NA NA BRWD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRWD3 NA NA NA ENSG00000165288 ENSE00003567192 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001723246_002 ENSE00001723246 002 X 80064447 80064616 - 65 30 75 C G 80064486 760 131 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGCGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT 80808947 80809117 80808986 80808987 80808987 downstr_intron 26 1.40625 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGCGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT mutant NA NA NA NA NA 161 29 0.9041673 0.9286198 0.9163936 0.85 0.8517694 0.9536277 0.897689 NA NA -0.04946038 0.03093079 0.8508847 0.9256584 NA -0.009264795 NA FALSE NA 1 1.515 . intron_variant&non_coding_transcript_variant MODIFIER BRWD3 HGNC 17342 ENST00000478415 3/7 1 NA CCC C,G 5.838e-05 X:80808987 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003567192 intron_variant 2.06122 0.91023 0.52274 0 0.8410531 0.825557 1 TRUE 6.1094e-05 ENSE00001723246_004 ENSE00001723246 004 X 80064447 80064616 - 65 30 75 C T 80064490 762 127 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGAGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT 80808947 80809117 80808990 80808991 80808991 downstr_intron 22 1.34375 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGAGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT mutant NA NA NA NA NA 17 100 0.8150841 0.8 0.807542 0.85 0.8517694 0.9536277 0.897689 NA NA -0.1385436 -0.09768905 0.8508847 0.9256584 NA -0.1181163 NA FALSE NA 0.99 0.251 . intron_variant&non_coding_transcript_variant MODIFIER BRWD3 HGNC 17342 ENST00000478415 3/7 rs375347676 1 NA T:0.0013 T:0 CCC C,T 8.335e-05 X:80808991 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003567192 intron_variant 2.075912 0.89406 0.38393 0 0.9019269 0.370032 1 TRUE 8.06701e-05 ENSE00001723246_005 ENSE00001723246 005 X 80064447 80064616 - 65 30 75 C G 80064520 763 97 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGCAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT 80808947 80809117 80809020 80809021 80809021 exon -9 0.7333333 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGCAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT mutant NA NA NA NA NA 11 35 0.95 0.9790893 0.9645446 0.85 0.8517694 0.9536277 0.897689 NA NA -0.003627668 0.0814002 0.8508847 0.9256584 NA 0.03888627 NA FALSE NA 1 2.549 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BRWD3 HGNC 17342 ENST00000478415 3/8 COSM1469609 1 NA TCC C,G 8.347e-06 X:80809021 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003567192 missense_variant 1.439881 0.93953 0.71427 0 0.911214 0 1 TRUE NA ENSE00001723246_006 ENSE00001723246 006 X 80064447 80064616 - 65 30 75 C T 80064530 764 87 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAAGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT 80808947 80809117 80809030 80809031 80809031 exon 12 0.4 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAAGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT mutant NA NA NA NA NA 46 109 0.9685117 0.9343347 0.9514232 0.85 0.8517694 0.9536277 0.897689 NA NA 0.01488399 0.03664568 0.8508847 0.9256584 NA 0.02576483 NA FALSE NA 1 0.779 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BRWD3 HGNC 17342 ENST00000478415 3/8 1 NA CCT C,T 2.509e-05 X:80809031 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003567192 synonymous_variant 0.811417 0.89149 0.40998 0 0.5276627 0 1 TRUE 2.04357e-05 ENSE00001723246_008 ENSE00001723246 008 X 80064447 80064616 - 65 30 75 G C 80064546 766 71 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGGTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT 80808947 80809117 80809046 80809047 80809047 upstr_intron -5 -0.05333333 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGGTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT mutant NA NA NA NA NA 160 18 0.6683351 0.8 0.7341676 0.85 0.8517694 0.9536277 0.897689 NA NA -0.2852925 -0.09768905 0.8508847 0.9256584 NA -0.1914908 NA FALSE NA 1 3.556 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW BRWD3 HGNC 17342 ENST00000478415 2/7 1 NA AGC G,C 8.439e-06 X:80809047 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003567192 splice_region_variant 1.155142 0.94037 0.79348 0 0.8952687 0.971067 1 TRUE 7.1698e-06 ENSE00001723246_010 ENSE00001723246 010 X 80064447 80064616 - 65 30 75 G C 80064579 768 38 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCGGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT 80808947 80809117 80809079 80809080 80809080 upstr_intron -38 -0.4933333 GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCGGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT mutant NA NA NA NA NA 28 87 0.9908339 0.9897578 0.9902959 0.85 0.8517694 0.9536277 0.897689 NA NA 0.03720625 0.09206877 0.8508847 0.9256584 NA 0.06463751 NA FALSE NA 0 -0.903 . intron_variant&non_coding_transcript_variant MODIFIER BRWD3 HGNC 17342 ENST00000478415 2/7 rs374260917 1 C:0.0008 C:0.0014 NA C:0 C:0 C:0 C:0.0005 C:0.001 CGG G,C 0.0006735 X:80809080 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003567192 intron_variant -1.037302 0.19953 0.05606 0 0.6348587 0.0631457 1 TRUE 0.000838843 ENSE00001723246_BRK ENSE00001723246 BRK X 80064447 80064616 - 65 30 75 A,G; T,T NA NA NA GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCTTGTGCTAGTGCAGGAGCTCGAGGAGCATCAGCCACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT 80808947 80809117 NA NA NA NA NA NA GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCTTGTGCTAGTGCAGGAGCTCGAGGAGCATCAGCCACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT GGGCTTTAAGTGTGGAGGGAGGAATGGGTTGATGGCCCGAGCTGCTCCTCATATCTGTGTTTCCCTTTTGCTCAGGTGCTAGTGCAGGAGCTCGAGGAGCATCAGGTACGGAGCCCCTTCGGGAAGGGTGGGGAGGGTTGAGGTGAGACTGGAGGAAGGGGAGGGCAAGT control 73 82 0 0 0 114 208 0 0 0 0.85 0.8517694 0.9536277 0.897689 -0.85 -0.8517694 -0.9536277 -0.897689 0.8508847 0.9256584 -0.8508847 -0.9256584 0.07477366 TRUE TRUE NA NA NA NA NA BRWD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRWD3 NA NA NA ENSG00000165288 ENSE00003567192 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001724477_000 ENSE00001724477 000 19 10689524 10689693 - 44 72 54 NA NA NA NA NA AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT 10578847 10579017 NA NA NA NA NA NA AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT natural 63 37 0.9903841 0.9590088 0.9746965 426 482 0.9916208 0.8767858 0.9342033 0.9903841 0.9590088 0.9916208 0.8767858 0 0 0 0 0.9746965 0.9342033 0 0 0 FALSE FALSE NA NA NA NA NA AP1M2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP1M2 NA NA NA ENSG00000129354 ENSE00001724477 NA NA NA NA NA NA NA 0.001345952 FALSE NA ENSE00001724477_002 ENSE00001724477 002 19 10689524 10689693 - 44 72 54 T A 10689542 971 152 AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTATCAATGCATGATCTCGGGT 10578847 10579017 10578865 10578866 10578866 downstr_intron 26 1.604651 AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTATCAATGCATGATCTCGGGT AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT mutant NA NA NA NA NA 1074 862 0.9974217 0.9996329 0.9985273 0.9903841 0.9590088 0.9916208 0.8767858 NA NA 0.005800832 0.122847 0.9746965 0.9342033 NA 0.06432393 NA FALSE NA 0 -1.858 . downstream_gene_variant MODIFIER AP1M2 HGNC 558 ENST00000589809 rs372367827 1 NA A:0.0003 A:0 GTT T,A 1.655e-05 19:10578866 AP1M2 HGNC Symbol protein_coding 14644 ENSG00000129354 ENSE00001724477 intron_variant 0.08131 0.09952 0.00504 0.099367 0.66404 0.0488012 0.001345952 FALSE 8.84901e-06 ENSE00001724477_013 ENSE00001724477 013 19 10689524 10689693 - 44 72 54 G C 10689630 982 64 AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCAGTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT 10578847 10579017 10578953 10578954 10578954 exon 10 0.1388889 AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCAGTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT mutant NA NA NA NA NA 302 26 0.9987671 0.9938679 0.9963175 0.9903841 0.9590088 0.9916208 0.8767858 NA NA 0.00714624 0.117082 0.9746965 0.9342033 NA 0.06211414 NA FALSE NA 1 3.836 . downstream_gene_variant MODIFIER AP1M2 HGNC 558 ENST00000589809 1 NA AGT G,C 8.278e-06 19:10578954 AP1M2 HGNC Symbol protein_coding 14644 ENSG00000129354 ENSE00001724477 missense_variant 2.597781 0.95318 0.97489 0.706548 0.9968035 0 0.001345952 FALSE NA ENSE00001724477_016 ENSE00001724477 016 19 10689524 10689693 - 44 72 54 T A 10689663 985 31 AAGAAGAGAGTCAACATGGAGTCTCCAAGATCTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT 10578847 10579017 10578986 10578987 10578987 upstr_intron -24 -0.4259259 AAGAAGAGAGTCAACATGGAGTCTCCAAGATCTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT AAGAAGAGAGTCAACATGGAGTCTCCAAGAACTCTCCCCTTCTTCTTCCCACAGGTCAAGCCACTGATCTGGATTGAGTCTGTCATTGAGAAGTTCTCCCACAGCCGCGTGGAGATCATGGTCAAGGTGGGCCTTGGGGGAATGCTTATTAACAATGCATGATCTCGGGT mutant NA NA NA NA NA 693 56 1 0.9971653 0.9985826 0.9903841 0.9590088 0.9916208 0.8767858 NA NA 0.008379162 0.1203794 0.9746965 0.9342033 NA 0.06437929 NA FALSE NA 0.001 -0.436 . downstream_gene_variant MODIFIER AP1M2 HGNC 558 ENST00000589809 rs577820679 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GTT T,A 2.501e-05 19:10578987 AP1M2 HGNC Symbol protein_coding 14644 ENSG00000129354 ENSE00001724477 intron_variant 0.213584 0.13774 0.0139 0.099367 0.5497099 0.0715063 0.001345952 FALSE 3.59642e-05 ENSE00001724766_000 ENSE00001724766 000 6 30890427 30890596 + 56 69 45 NA NA NA NA NA CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT 30922649 30922819 NA NA NA NA NA NA CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT natural NA NA NA NA NA 1616 110 0.9908892 1 0.9954446 NA NA 0.9908892 1 NA NA 0 0 NA 0.9954446 NA 0 NA FALSE NA NA NA NA NA NA VARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VARS2 NA NA NA ENSG00000137411 ENSE00003467476 NA NA NA NA NA NA NA 4.219499e-14 FALSE NA ENSE00001724766_003 ENSE00001724766 003 6 30890427 30890596 + 56 69 45 C T 30890450 603 24 CCTTATAGAGGCAGGGCCTTCGATCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT 30922649 30922819 30922672 30922673 30922673 upstr_intron -33 -0.5714286 CCTTATAGAGGCAGGGCCTTCGATCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 714 18 0.9945116 0.9911105 0.992811 NA NA 0.9908892 1 NA NA 0.003622379 -0.008889536 NA 0.9954446 NA -0.002633579 NA FALSE NA 0 -0.167 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/4 rs568164670 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACC C,T 8.491e-06 6:30922673 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 non_coding_transcript_exon_variant 0.629898 0.23679 0.08052 0.256867 0.7240376 0.0682954 4.219499e-14 FALSE 4.30697e-06 ENSE00001724766_005 ENSE00001724766 005 6 30890427 30890596 + 56 69 45 G A 30890458 605 32 AGGTGGTGAGCTAGAGCTGGTGGGGGGCAGGCAGCGATGACTCACCTGTGCTGCAGCCACAATGGCCAGCTCTGCAGGGTCCAAATTTCCGCTTCTCAGCTTTTCCTGCAGCACCTGGGGATGGAAGGGGGCAATTCATGACCCAGGTCGAAGGCCCTGCCTCTATAAGG 30922649 30922819 30922680 30922681 30922681 upstr_intron -25 -0.4285714 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCATGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 27 293 1 0.9989541 0.999477 NA NA 0.9908892 1 NA NA 0.009110797 -0.001045911 NA 0.9954446 NA 0.004032443 NA FALSE NA 0 -1.515 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:30922681 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 non_coding_transcript_exon_variant 0.390133 0.1889 0.07279 0.256867 0.3339316 0.109706 4.219499e-14 FALSE 6.7834e-05 ENSE00001724766_006 ENSE00001724766 006 6 30890427 30890596 + 56 69 45 G T 30890458 606 32 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCTTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT 30922649 30922819 30922680 30922681 30922681 upstr_intron -25 -0.4285714 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCTTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 554 348 0.9963164 0.992799 0.9945577 NA NA 0.9908892 1 NA NA 0.005427164 -0.007200958 NA 0.9954446 NA -0.0008868971 NA FALSE NA 0 -1.515 NA NA NA VARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VARS2 NA NA NA ENSG00000137411 ENSE00003467476 non_coding_transcript_exon_variant 0.272594 0.19734 0.06932 0.256867 0.3566523 0.109706 4.219499e-14 FALSE 1.27189e-05 ENSE00001724766_012 ENSE00001724766 012 6 30890427 30890596 + 56 69 45 G T 30890483 612 57 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGTTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT 30922649 30922819 30922705 30922706 30922706 exon 1 0.01449275 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGTTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 17 11 0.8 1 0.9 NA NA 0.9908892 1 NA NA -0.1908892 0 NA 0.9954446 NA -0.0954446 NA FALSE NA 1 3.91 rs115063829 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/4 rs2074506&COSM4160584 1 T:0.2220 T:0.0983 T:0.2075 NA T:0.247 T:0.3559 T:0.2362 T:0.1458 T:0.3766 GGT G,T 0.319 6:30922706 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 missense_variant 2.871966 0.93637 0.92585 0.716459 0.9859861 0 4.219499e-14 FALSE 0.317169 ENSE00001724766_017 ENSE00001724766 017 6 30890427 30890596 + 56 69 45 G T 30890516 617 90 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGTACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT 30922649 30922819 30922738 30922739 30922739 exon 34 0.4927536 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGTACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 536 10 0.9968878 1 0.9984439 NA NA 0.9908892 1 NA NA 0.005998565 0 NA 0.9954446 NA 0.002999283 NA FALSE NA 1 7.863 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/4 1 NA GGA G,T 8.508e-06 6:30922739 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 missense_variant 5.923789 0.96714 0.97768 0.716459 0.9943503 0 4.219499e-14 FALSE 4.15538e-06 ENSE00001724766_018 ENSE00001724766 018 6 30890427 30890596 + 56 69 45 C T 30890518 618 92 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGATCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT 30922649 30922819 30922740 30922741 30922741 exon -34 0.5217391 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGATCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 117 712 1 0.9989238 0.9994619 NA NA 0.9908892 1 NA NA 0.009110797 -0.001076228 NA 0.9954446 NA 0.004017285 NA FALSE NA 0.775 -0.215 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/4 1 NA ACC C,T 1.701e-05 6:30922741 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 synonymous_variant 1.207428 0.8949 0.50493 0.716459 0.6986433 0 4.219499e-14 FALSE 3.32519e-05 ENSE00001724766_019 ENSE00001724766 019 6 30890427 30890596 + 56 69 45 C A 30890519 619 93 AGGTGGTGAGCTAGAGCTGGTGGGGGGCAGGCAGCGATGACTCACCTGTGCTGCAGCCACAATGGCCAGCTCTGCAGTGTCCAAATTTCCGCTTCTCAGCTTTTCCTGCAGCACCTGGGGATGGAAGGGGGCAATTCACGACCCAGGTCGAAGGCCCTGCCTCTATAAGG 30922649 30922819 30922741 30922742 30922742 exon -33 0.5362319 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACACTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 175 82 1 0.9980664 0.9990332 NA NA 0.9908892 1 NA NA 0.009110797 -0.001933612 NA 0.9954446 NA 0.003588593 NA FALSE NA 0.974 2.194 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/4 1 NA CCC C,A 2.552e-05 6:30922742 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 missense_variant 3.643841 0.95198 0.9142 0.716459 0.9954989 0 4.219499e-14 FALSE 1.24705e-05 ENSE00001724766_020 ENSE00001724766 020 6 30890427 30890596 + 56 69 45 T C 30890535 620 109 AGGTGGTGAGCTAGAGCTGGTGGGGGGCAGGCAGCGATGACTCACCTGTGCTGCAGCCACAGTGGCCAGCTCTGCAGGGTCCAAATTTCCGCTTCTCAGCTTTTCCTGCAGCACCTGGGGATGGAAGGGGGCAATTCACGACCCAGGTCGAAGGCCCTGCCTCTATAAGG 30922649 30922819 30922757 30922758 30922758 exon -17 0.7681159 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCACTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 236 91 1 0.9930154 0.9965077 NA NA 0.9908892 1 NA NA 0.009110797 -0.006984623 NA 0.9954446 NA 0.001063087 NA FALSE NA 0.059 2.965 rs115400306 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/4 rs115400306 1 C:0.0018 C:0.0068 C:0 NA C:0 C:0 C:0 C:0.0106 C:0 ATT T,C 0.0008687 6:30922758 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 missense_variant 1.068246 0.93571 0.78609 0.716459 0.7401569 0 4.219499e-14 FALSE 0.000749039 ENSE00001724766_021 ENSE00001724766 021 6 30890427 30890596 + 56 69 45 C A 30890547 621 121 AGGTGGTGAGCTAGAGCTGGTGGGGGGCAGGCAGCGATGACTCACCTGTTCTGCAGCCACAATGGCCAGCTCTGCAGGGTCCAAATTTCCGCTTCTCAGCTTTTCCTGCAGCACCTGGGGATGGAAGGGGGCAATTCACGACCCAGGTCGAAGGCCCTGCCTCTATAAGG 30922649 30922819 30922769 30922770 30922770 exon -5 0.942029 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGAACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 168 17 1 1 1 NA NA 0.9908892 1 NA NA 0.009110797 0 NA 0.9954446 NA 0.004555399 NA FALSE NA 0.998 2.994 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/4 rs575936370 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GCA C,A 8.516e-06 6:30922770 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 missense_variant 5.495626 0.92567 0.93181 0.716459 0.9699662 0 4.219499e-14 FALSE NA ENSE00001724766_024 ENSE00001724766 024 6 30890427 30890596 + 56 69 45 C A 30890563 624 137 AGGTGGTGAGCTAGAGCTGGTGGGGGGCAGGCATCGATGACTCACCTGTGCTGCAGCCACAATGGCCAGCTCTGCAGGGTCCAAATTTCCGCTTCTCAGCTTTTCCTGCAGCACCTGGGGATGGAAGGGGGCAATTCACGACCCAGGTCGAAGGCCCTGCCTCTATAAGG 30922649 30922819 30922785 30922786 30922786 downstr_intron 12 1.272727 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGATGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 19 71 1 1 1 NA NA 0.9908892 1 NA NA 0.009110797 0 NA 0.9954446 NA 0.004555399 NA FALSE NA 0 0.609 . intron_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/3 1 NA GCT C,A 8.518e-06 6:30922786 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 intron_variant 0.233673 0.24439 0.18576 0 0.5535964 0.0739675 4.219499e-14 FALSE NA ENSE00001724766_028 ENSE00001724766 028 6 30890427 30890596 + 56 69 45 C T 30890574 628 148 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCTCACCAGCTCTAGCTCACCACCT 30922649 30922819 30922796 30922797 30922797 downstr_intron 23 1.522727 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCTCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 906 145 0.9994209 0.9989077 0.9991643 NA NA 0.9908892 1 NA NA 0.008531687 -0.001092277 NA 0.9954446 NA 0.003719705 NA FALSE NA 0 -2.721 . intron_variant&non_coding_transcript_variant MODIFIER VARS2 HGNC 21642 ENST00000477052 1/3 1 NA CCC C,T 1.703e-05 6:30922797 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 intron_variant 0.379757 0.14483 0.05471 0 0.45289 0.0729794 4.219499e-14 FALSE NA ENSE00001724766_029 ENSE00001724766 029 6 30890427 30890596 + 56 69 45 C T 30890575 629 149 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCTACCAGCTCTAGCTCACCACCT 30922649 30922819 30922797 30922798 30922798 downstr_intron 24 1.545455 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCTACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 64 1249 1 0.9994803 0.9997402 NA NA 0.9908892 1 NA NA 0.009110797 -0.0005196744 NA 0.9954446 NA 0.004295562 NA FALSE NA 0 -1.131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:30922798 VARS2 HGNC Symbol protein_coding 18217 ENSG00000137411 ENSE00003467476 intron_variant 0.041401 0.21508 0.03577 0 0.5152576 0.0729794 4.219499e-14 FALSE 1.29345e-05 ENSE00001724766_030 ENSE00001724766 030 6 30890427 30890596 + 56 69 45 C A 30890575 630 149 AGGTGGTGAGCTAGAGCTGGTTGGGGGCAGGCAGCGATGACTCACCTGTGCTGCAGCCACAATGGCCAGCTCTGCAGGGTCCAAATTTCCGCTTCTCAGCTTTTCCTGCAGCACCTGGGGATGGAAGGGGGCAATTCACGACCCAGGTCGAAGGCCCTGCCTCTATAAGG 30922649 30922819 30922797 30922798 30922798 downstr_intron 24 1.545455 CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCAACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT mutant NA NA NA NA NA 75 361 1 1 1 NA NA 0.9908892 1 NA NA 0.009110797 0 NA 0.9954446 NA 0.004555399 NA FALSE NA 0 -1.131 NA NA NA VARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VARS2 NA NA NA ENSG00000137411 ENSE00003467476 intron_variant 0.072556 0.23511 0.16029 0 0.5912816 0.0729794 4.219499e-14 FALSE 8.62299e-06 ENSE00001724766_BRK ENSE00001724766 BRK 6 30890427 30890596 + 56 69 45 A,G; T,T NA NA NA CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCTTGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGCCGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT 30922649 30922819 NA NA NA NA NA NA CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCTTGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGCCGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT CCTTATAGAGGCAGGGCCTTCGACCTGGGTCGTGAATTGCCCCCTTCCATCCCCAGGTGCTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCAGCACAGGTGAGTCATCGCTGCCTGCCCCCCACCAGCTCTAGCTCACCACCT control NA NA NA NA NA 153 1047 0.0146732 0.01378304 0.01422812 NA NA 0.9908892 1 NA NA -0.976216 -0.986217 NA 0.9954446 NA -0.9812165 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VARS2 NA NA NA ENSG00000137411 ENSE00003467476 NA NA NA NA NA NA NA 4.219499e-14 FALSE NA ENSE00001725424_000 ENSE00001725424 000 9 137642592 137642761 + 44 93 33 NA NA NA NA NA GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 NA NA NA NA NA NA GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG natural 463 700 0.8456963 0.7891324 0.8174144 569 1293 0.9417287 0.9308416 0.9362851 0.8456963 0.7891324 0.9417287 0.9308416 0 0 0 0 0.8174144 0.9362851 0 0 0 FALSE FALSE NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001725424 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001725424_001 ENSE00001725424 001 9 137642592 137642761 + 44 93 33 C T 137642607 3508 16 GCCACGTCACTGCTCTCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750760 134750761 134750761 upstr_intron -29 -0.6363636 GCCACGTCACTGCTCTCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 1383 945 0.9609911 0.9630978 0.9620445 0.8456963 0.7891324 0.9417287 0.9308416 NA NA 0.01926247 0.0322562 0.8174144 0.9362851 NA 0.02575933 NA FALSE NA 0.002 0.405 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 12/65 rs371773167 1 NA T:0 T:0.0001 CCC C 8.238e-06 9:134750761 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 intron_variant 0.248524 0.1552 0.04623 0.062308 0.706763 0.0770798 1 TRUE 1.62821e-05 ENSE00001725424_005 ENSE00001725424 005 9 137642592 137642761 + 44 93 33 C T 137642629 3512 38 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACATTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750782 134750783 134750783 upstr_intron -7 -0.1363636 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACATTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 788 48 0.9939449 0.9966907 0.9953178 0.8456963 0.7891324 0.9417287 0.9308416 NA NA 0.05221629 0.06584913 0.8174144 0.9362851 NA 0.05903271 NA FALSE NA 0 0.231 . splice_region_variant&intron_variant LOW COL5A1 HGNC 2209 ENST00000371817 12/65 rs566717644 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACT C 3.295e-05 9:134750783 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 splice_region_variant 0.406188 0.18573 0.06502 0.062308 0.496608 0.186583 1 TRUE 3.25452e-05 ENSE00001725424_007 ENSE00001725424 007 9 137642592 137642761 + 44 93 33 G A 137642640 3514 49 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCAGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750793 134750794 134750794 exon 5 0.05376344 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCAGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 1134 59 0.9030499 0.9473604 0.9252052 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.03867871 0.01651879 0.8174144 0.9362851 NA -0.01107996 NA FALSE NA 1 6.727 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 13/66 rs375762619 1 probably_damaging(0.984) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0001 CGG G 6.59e-05 9:134750794 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 5.428164 0.99155 0.9736 0.706548 0.9959388 0 1 TRUE 6.91647e-05 ENSE00001725424_009 ENSE00001725424 009 9 137642592 137642761 + 44 93 33 G T 137642649 3516 58 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGTTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750802 134750803 134750803 exon 14 0.1505376 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGTTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 966 1900 0.9704199 0.9741653 0.9722926 0.8456963 0.7891324 0.9417287 0.9308416 NA NA 0.02869122 0.04332364 0.8174144 0.9362851 NA 0.03600743 NA FALSE NA 1 4.02 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134750803 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 4.434254 0.9913 0.94507 0.706548 0.9772875 0 1 TRUE 4.06832e-06 ENSE00001725424_010 ENSE00001725424 010 9 137642592 137642761 + 44 93 33 C T 137642653 3517 62 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGTGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750806 134750807 134750807 exon 18 0.1935484 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGTGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 858 21 0.8038496 0.8276987 0.8157742 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.137879 -0.1031429 0.8174144 0.9362851 NA -0.120511 NA FALSE NA 0 -3.448 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 13/66 rs529255491&COSM3905454 1 NA GCG C 4.943e-05 9:134750807 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 synonymous_variant 1.078205 0.05867 0.00544 0.706548 0.6929178 0 1 TRUE 3.25582e-05 ENSE00001725424_011 ENSE00001725424 011 9 137642592 137642761 + 44 93 33 G A 137642654 3518 63 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCAGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750807 134750808 134750808 exon 19 0.2043011 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCAGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 586 79 0.8046645 0.8018285 0.8032465 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.1370641 -0.1290132 0.8174144 0.9362851 NA -0.1330386 NA FALSE NA 1 5.397 rs61735045 missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 13/66 rs61735045&COSM1559848&CM020927 1 probably_damaging(0.999) A:0.0236 A:0.0008 A:0.0403 NA A:0.001 A:0.0467 A:0.0419 A:0.0089 A:0.0433 CGG G 0.035 9:134750808 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 4.888706 0.99115 0.96221 0.706548 0.9371143 0 1 TRUE 0.0347998 ENSE00001725424_013 ENSE00001725424 013 9 137642592 137642761 + 44 93 33 G A 137642657 3520 66 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCAATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750810 134750811 134750811 exon 22 0.2365591 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCAATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 85 35 0.8994853 0.8041296 0.8518074 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.04224341 -0.126712 0.8174144 0.9362851 NA -0.08447773 NA FALSE NA 1 6.707 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 13/66 COSM3926400 1 probably_damaging(0.993) NA CGA G 8.237e-06 9:134750811 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 4.379637 0.96867 0.95548 0.706548 0.9946919 0 1 TRUE 8.13855e-06 ENSE00001725424_014 ENSE00001725424 014 9 137642592 137642761 + 44 93 33 C T 137642661 3521 70 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGTGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750814 134750815 134750815 exon 26 0.2795699 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGTGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 1558 756 0.7757597 0.7994536 0.7876066 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.1659689 -0.1313881 0.8174144 0.9362851 NA -0.1486785 NA FALSE NA 0.981 2.22 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 13/66 rs369000939 1 possibly_damaging(0.873) NA T:0 T:0.0001 GCG C 4.942e-05 9:134750815 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 4.516543 0.76396 0.72308 0.706548 0.9926292 0 1 TRUE 3.66405e-05 ENSE00001725424_015 ENSE00001725424 015 9 137642592 137642761 + 44 93 33 G A 137642662 3522 71 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCAGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750815 134750816 134750816 exon 27 0.2903226 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCAGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 1034 590 0.9941658 0.930486 0.9623259 0.8456963 0.7891324 0.9417287 0.9308416 NA NA 0.05243717 -0.0003556536 0.8174144 0.9362851 NA 0.02604076 NA FALSE NA 0 -2.944 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 13/66 1 NA CGG G 0.0001236 9:134750816 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 synonymous_variant 1.534943 0.10315 0.02114 0.706548 0.6109626 0 1 TRUE 5.69824e-05 ENSE00001725424_016 ENSE00001725424 016 9 137642592 137642761 + 44 93 33 G A 137642673 3523 82 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGACCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750826 134750827 134750827 exon 38 0.4086022 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGACCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 935 765 0.8 0.8001887 0.8000944 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.1417287 -0.1306529 0.8174144 0.9362851 NA -0.1361908 NA FALSE NA 1 8.53 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 13/66 1 probably_damaging(0.999) NA GGC G 8.238e-06 9:134750827 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 6.630596 0.99135 0.98399 0.706548 0.9970502 0 1 TRUE NA ENSE00001725424_017 ENSE00001725424 017 9 137642592 137642761 + 44 93 33 G C 137642693 3524 102 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGCAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750846 134750847 134750847 exon -36 0.6236559 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGCAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 292 331 0.8 0.8 0.8 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.1417287 -0.1308416 0.8174144 0.9362851 NA -0.1362851 NA FALSE NA 1 8.53 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 13/66 1 probably_damaging(0.99) NA GGA G 8.241e-06 9:134750847 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 4.690535 0.99195 0.98675 0.706548 0.9945767 0 1 TRUE 4.0838e-06 ENSE00001725424_019 ENSE00001725424 019 9 137642592 137642761 + 44 93 33 G A 137642704 3526 113 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCACAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750857 134750858 134750858 exon -25 0.7419355 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCACAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 56 1126 0.9747451 0.9914537 0.9830994 0.8456963 0.7891324 0.9417287 0.9308416 NA NA 0.03301646 0.06061212 0.8174144 0.9362851 NA 0.04681429 NA FALSE NA 0.011 -1.484 . synonymous_variant LOW COL5A1 HGNC 2209 ENST00000371817 13/66 COSM753244 1 NA CGC G 2.473e-05 9:134750858 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 synonymous_variant 1.859432 0.94824 0.09158 0.706548 0.6843328 0 1 TRUE NA ENSE00001725424_020 ENSE00001725424 020 9 137642592 137642761 + 44 93 33 G A 137642708 3527 117 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAACCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750861 134750862 134750862 exon -21 0.7849462 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAACCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 190 852 1 0.9861122 0.9930561 0.8456963 0.7891324 0.9417287 0.9308416 NA NA 0.05827134 0.05527062 0.8174144 0.9362851 NA 0.05677098 NA FALSE NA 1 8.53 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 13/66 1 probably_damaging(0.992) NA AGC G 1.648e-05 9:134750862 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 6.935882 0.99149 0.98352 0.706548 0.9973208 0 1 TRUE 8.1612e-06 ENSE00001725424_023 ENSE00001725424 023 9 137642592 137642761 + 44 93 33 C T 137642724 3530 133 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGTCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 134750877 134750878 134750878 exon -5 0.9569892 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGTCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 1081 117 0.8041657 0.8 0.8020829 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.137563 -0.1308416 0.8174144 0.9362851 NA -0.1342023 NA FALSE NA 1 6.763 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 13/66 1 probably_damaging(0.989) NA GCC C 8.241e-06 9:134750878 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 missense_variant 7.307984 0.99132 0.97407 0.706548 0.9984502 0 1 TRUE 4.09005e-06 ENSE00001725424_025 ENSE00001725424 025 9 137642592 137642761 + 44 93 33 C T 137642747 3532 156 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCTAAGAGGCCTGAAGG 134750745 134750915 134750900 134750901 134750901 downstr_intron 19 1.59375 GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCTAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG mutant NA NA NA NA NA 156 183 0.8295469 0.9415023 0.8855246 0.8456963 0.7891324 0.9417287 0.9308416 NA NA -0.1121818 0.0106607 0.8174144 0.9362851 NA -0.05076055 NA FALSE NA 0 -1.336 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 13/65 1 NA CCA C 8.248e-06 9:134750901 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001725424 intron_variant 0.271187 0.11364 0.0044 0.062308 0.7453917 0.0529826 1 TRUE 4.18015e-06 ENSE00001725424_BRK ENSE00001725424 BRK 9 137642592 137642761 + 44 93 33 A,G; T,T NA NA NA GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCTTTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGCCGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG 134750745 134750915 NA NA NA NA NA NA GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCTTTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGCCGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG GCCACGTCACTGCTCCCAGAGTGACCCTTGTCTTACACTTGCAGTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGGGTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGG control 91 93 0 0 0 222 373 0 0 0 0.8456963 0.7891324 0.9417287 0.9308416 -0.8456963 -0.7891324 -0.9417287 -0.9308416 0.8174144 0.9362851 -0.8174144 -0.9362851 0.1188708 TRUE TRUE NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001725424 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001725883_000 ENSE00001725883 000 15 67652114 67652283 + 71 39 60 NA NA NA NA NA CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 NA NA NA NA NA NA CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT natural NA NA NA NA NA 2339 2929 0.9918737 0.8688874 0.9303806 NA NA 0.9918737 0.8688874 NA NA 0 0 NA 0.9303806 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IQCH NA NA NA ENSG00000103599 ENSE00003532292 NA NA NA NA NA NA NA 2.693473e-12 FALSE NA ENSE00001725883_001 ENSE00001725883 001 15 67652114 67652283 + 71 39 60 A G 67652140 1535 27 CTTCTATTTGTTTTGTAAAATTGCCCGTGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359801 67359802 67359802 upstr_intron -45 -0.6197183 CTTCTATTTGTTTTGTAAAATTGCCCGTGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 252 93 0.9925855 1 0.9962927 NA NA 0.9918737 0.8688874 NA NA 0.000711757 0.1311126 NA 0.9303806 NA 0.06591217 NA FALSE NA 0.706 0.451 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:67359802 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 intron_variant 2.162594 0.41891 0.20506 0.074636 0.5980903 0.525601 2.693473e-12 FALSE 4.06319e-06 ENSE00001725883_002 ENSE00001725883 002 15 67652114 67652283 + 71 39 60 A T 67652140 1536 27 CTTCTATTTGTTTTGTAAAATTGCCCTTGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359801 67359802 67359802 upstr_intron -45 -0.6197183 CTTCTATTTGTTTTGTAAAATTGCCCTTGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 89 16 1 1 1 NA NA 0.9918737 0.8688874 NA NA 0.008126306 0.1311126 NA 0.9303806 NA 0.06961945 NA FALSE NA 0.706 0.451 NA NA NA IQCH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IQCH NA NA NA ENSG00000103599 ENSE00003532292 intron_variant 2.087169 0.41622 0.24451 0.074636 0.7790645 0.525601 2.693473e-12 FALSE 4.06319e-06 ENSE00001725883_005 ENSE00001725883 005 15 67652114 67652283 + 71 39 60 T C 67652150 1539 37 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGCTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359811 67359812 67359812 upstr_intron -35 -0.4788732 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGCTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 292 71 0.9952426 0.9718871 0.9835649 NA NA 0.9918737 0.8688874 NA NA 0.003368948 0.1029997 NA 0.9303806 NA 0.05318433 NA FALSE NA 1 1.438 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 rs201209992 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 GTT T,C 8.236e-06 15:67359812 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 intron_variant 2.591062 0.91245 0.62727 0.074636 0.7600498 0.527143 2.693473e-12 FALSE 4.06243e-06 ENSE00001725883_010 ENSE00001725883 010 15 67652114 67652283 + 71 39 60 A C 67652178 1544 65 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCCTTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359839 67359840 67359840 upstr_intron -7 -0.08450704 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCCTTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 115 677 0.9823811 1 0.9911905 NA NA 0.9918737 0.8688874 NA NA -0.00949262 0.1311126 NA 0.9303806 NA 0.06080998 NA FALSE NA 1 0.742 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 1 NA CAT A,C 1.647e-05 15:67359840 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 splice_region_variant 1.44814 0.95182 0.65398 0.074636 0.8380453 0.517062 2.693473e-12 FALSE 1.62456e-05 ENSE00001725883_015 ENSE00001725883 015 15 67652114 67652283 + 71 39 60 T A 67652214 1549 101 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCAAGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359875 67359876 67359876 exon -10 0.7692308 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCAAGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 24 465 1 0.9892545 0.9946272 NA NA 0.9918737 0.8688874 NA NA 0.008126306 0.120367 NA 0.9303806 NA 0.06424667 NA FALSE NA 0 -0.682 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 1 NA ATG T,A 1.647e-05 15:67359876 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 missense_variant -0.345901 0.1477 0.02532 0.653281 0.8238862 0 2.693473e-12 FALSE 2.03056e-05 ENSE00001725883_016 ENSE00001725883 016 15 67652114 67652283 + 71 39 60 G C 67652220 1550 107 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGCAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359881 67359882 67359882 exon -4 0.9230769 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGCAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 20 76 1 0.982409 0.9912045 NA NA 0.9918737 0.8688874 NA NA 0.008126306 0.1135216 NA 0.9303806 NA 0.06082394 NA FALSE NA 0.791 0.886 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 1 NA GGA G,C 5.765e-05 15:67359882 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 missense_variant 0.605694 0.48013 0.44019 0.653281 0.9205732 0 2.693473e-12 FALSE 4.46733e-05 ENSE00001725883_017 ENSE00001725883 017 15 67652114 67652283 + 71 39 60 G A 67652235 1551 122 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTATGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359896 67359897 67359897 downstr_intron 12 1.20339 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTATGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 90 1091 1 0.999855 0.9999275 NA NA 0.9918737 0.8688874 NA NA 0.008126306 0.1309676 NA 0.9303806 NA 0.06954695 NA FALSE NA 1 2.064 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 1 NA TGT G,A 4.942e-05 15:67359897 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 non_coding_transcript_exon_variant 2.609019 0.98419 0.86301 0.074388 0.6938899 0.986936 2.693473e-12 FALSE 5.68703e-05 ENSE00001725883_019 ENSE00001725883 019 15 67652114 67652283 + 71 39 60 A C 67652240 1553 127 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGCCTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359901 67359902 67359902 downstr_intron 17 1.288136 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGCCTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 1280 238 0.9994198 0.9684685 0.9839442 NA NA 0.9918737 0.8688874 NA NA 0.007546145 0.0995811 NA 0.9303806 NA 0.05356362 NA FALSE NA 1 4.188 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 1 NA GAC A,C 4.942e-05 15:67359902 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 non_coding_transcript_exon_variant 2.195277 0.98196 0.93327 0.074388 0.8251647 0.964754 2.693473e-12 FALSE 5.28133e-05 ENSE00001725883_020 ENSE00001725883 020 15 67652114 67652283 + 71 39 60 A C 67652248 1554 135 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGCAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359909 67359910 67359910 downstr_intron 25 1.423729 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGCAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 115 479 1 0.9932073 0.9966037 NA NA 0.9918737 0.8688874 NA NA 0.008126306 0.1243199 NA 0.9303806 NA 0.06622311 NA FALSE NA 1 0.397 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 1 NA GAA A,C 8.236e-06 15:67359910 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 non_coding_transcript_exon_variant 0.37419 0.9392 0.47939 0.074388 0.6866135 0.432948 2.693473e-12 FALSE 4.06402e-06 ENSE00001725883_021 ENSE00001725883 021 15 67652114 67652283 + 71 39 60 T A 67652252 1555 139 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATATAGGGTCTGTCACCTGATGTCCCTTCCTTTT 67359775 67359945 67359913 67359914 67359914 downstr_intron 29 1.491525 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATATAGGGTCTGTCACCTGATGTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 590 44 0.9191495 0.9963885 0.957769 NA NA 0.9918737 0.8688874 NA NA -0.07272424 0.1275011 NA 0.9303806 NA 0.02738841 NA FALSE NA 1 1.266 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 1 NA TTT T,A 8.236e-06 15:67359914 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 non_coding_transcript_exon_variant 1.267124 0.95861 0.67644 0.074388 0.7181734 0.608844 2.693473e-12 FALSE 4.06372e-06 ENSE00001725883_022 ENSE00001725883 022 15 67652114 67652283 + 71 39 60 G T 67652271 1556 158 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATTTCCCTTCCTTTT 67359775 67359945 67359932 67359933 67359933 downstr_intron 48 1.813559 CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATTTCCCTTCCTTTT CTTCTATTTGTTTTGTAAAATTGCCCATGAGAGTCGTTTTGATTTAAACTGTGTCTCATTCTTCATTGTAGGGGAAAAGCAGAAGGTCAAGAGGACATCATGATAGGAAGGTCTGTAATTTGTGTGACTAGTTGAAATTTAGGGTCTGTCACCTGATGTCCCTTCCTTTT mutant NA NA NA NA NA 31 42 1 0.9903925 0.9951962 NA NA 0.9918737 0.8688874 NA NA 0.008126306 0.1215051 NA 0.9303806 NA 0.06481569 NA FALSE NA 1 4.172 . intron_variant&NMD_transcript_variant MODIFIER IQCH HGNC 25721 ENST00000535744 7/7 1 NA TGT G,T 8.236e-06 15:67359933 IQCH HGNC Symbol protein_coding 247460 ENSG00000103599 ENSE00003532292 non_coding_transcript_exon_variant 2.589114 0.98274 0.90368 0.074388 0.7960958 0.982654 2.693473e-12 FALSE 4.0711e-06 ENSE00001726168_000 ENSE00001726168 000 1 55193972 55194141 + 47 87 36 NA NA NA NA NA AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 NA NA NA NA NA NA GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT natural 106 213 0.9768884 0.9239624 0.9504254 3401 2862 0.9968037 0.8239952 0.9103995 0.9768884 0.9239624 0.9968037 0.8239952 0 0 0 0 0.9504254 0.9103995 0 0 0 FALSE FALSE NA NA NA NA NA MROH7-TTC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MROH7-TTC4 NA NA NA ENSG00000271723 ENSE00003589511 NA NA NA NA NA NA NA NA NA NA ENSE00001726168_BRK ENSE00001726168 BRK 1 55193972 55194141 + 47 87 36 A,G; T,T NA NA NA AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCGGCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTCGAAAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 NA NA NA NA NA NA GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTTTCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGCCGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT control 464 44 0 0 0 794 857 0.01041592 0.07000129 0.04020861 0.9768884 0.9239624 0.9968037 0.8239952 -0.9768884 -0.9239624 -0.9863878 -0.7539939 0.9504254 0.9103995 -0.9504254 -0.8701909 0.08023454 TRUE TRUE NA NA NA NA NA MROH7-TTC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MROH7-TTC4 NA NA NA ENSG00000271723 ENSE00003589511 NA NA NA NA NA NA NA NA NA NA ENSE00001726243_000 ENSE00001726243 000 20 37612291 37612460 + 51 78 41 NA NA NA NA NA GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 NA NA NA NA NA NA GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT natural 87 115 0.9932784 0.9933389 0.9933086 1143 4540 0.7934514 0.904912 0.8491817 0.9932784 0.9933389 0.7934514 0.904912 0 0 0 0 0.9933086 0.8491817 0 0 0 FALSE FALSE NA NA NA NA NA DHX35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX35 NA NA NA ENSG00000101452 ENSE00001726243 NA NA NA NA NA NA NA 9.692738e-11 FALSE NA ENSE00001726243_001 ENSE00001726243 001 20 37612291 37612460 + 51 78 41 G T 37612302 1215 12 GCTCTGCAAAATTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983658 38983659 38983659 upstr_intron -40 -0.7647059 GCTCTGCAAAATTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 1362 586 0.9992726 0.9069239 0.9530983 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.2058212 0.002011923 0.9933086 0.8491817 NA 0.1039165 NA FALSE NA 0.134 2.174 . intron_variant MODIFIER DHX35 HGNC 15861 ENST00000252011 3/21 1 NA AGT G,T 8.237e-06 20:38983659 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 intron_variant 0.169149 0.33658 0.17131 0.106106 0.7553224 0.0673128 9.692738e-11 FALSE 1.65044e-05 ENSE00001726243_002 ENSE00001726243 002 20 37612291 37612460 + 51 78 41 G A 37612305 1216 15 GCTCTGCAAAAGTGATATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983661 38983662 38983662 upstr_intron -37 -0.7058824 GCTCTGCAAAAGTGATATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 87 574 0.9982339 0.9966145 0.9974242 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.2047825 0.0917025 0.9933086 0.8491817 NA 0.1482425 NA FALSE NA 0 -1.097 . intron_variant MODIFIER DHX35 HGNC 15861 ENST00000252011 3/21 1 NA GGT G,A 8.266e-06 20:38983662 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 intron_variant 0.055918 0.17932 0.01424 0.106106 0.7469207 0.0673128 9.692738e-11 FALSE NA ENSE00001726243_003 ENSE00001726243 003 20 37612291 37612460 + 51 78 41 C A 37612309 1217 19 GCTCTGCAAAAGTGGTATAATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983665 38983666 38983666 upstr_intron -33 -0.627451 GCTCTGCAAAAGTGGTATAATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 818 259 0.9962165 1 0.9981083 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.2027651 0.09508798 0.9933086 0.8491817 NA 0.1489266 NA FALSE NA 0 0.107 . intron_variant MODIFIER DHX35 HGNC 15861 ENST00000252011 3/21 1 NA TCA C,A 8.266e-06 20:38983666 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 intron_variant 0.436788 0.25331 0.09913 0.106106 0.6539294 0.0673128 9.692738e-11 FALSE 1.63797e-05 ENSE00001726243_004 ENSE00001726243 004 20 37612291 37612460 + 51 78 41 G A 37612314 1218 24 GCTCTGCAAAAGTGGTATCATATATATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983670 38983671 38983671 upstr_intron -28 -0.5294118 GCTCTGCAAAAGTGGTATCATATATATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 404 313 0.9860998 1 0.9930499 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.1926484 0.09508798 0.9933086 0.8491817 NA 0.1438682 NA FALSE NA 0 -0.127 . intron_variant MODIFIER DHX35 HGNC 15861 ENST00000252011 3/21 1 NA TGT G,A 2.472e-05 20:38983671 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 intron_variant 0.181837 0.17992 0.02554 0.163922 0.7198028 0.0598705 9.692738e-11 FALSE 1.22761e-05 ENSE00001726243_006 ENSE00001726243 006 20 37612291 37612460 + 51 78 41 C T 37612356 1220 66 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCTGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983712 38983713 38983713 exon 15 0.1923077 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCTGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 193 581 1 0.9917318 0.9958659 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.2065486 0.08681983 0.9933086 0.8491817 NA 0.1466842 NA FALSE NA 1 1.198 . synonymous_variant LOW DHX35 HGNC 15861 ENST00000252011 4/22 1 NA CCG C,T 8.236e-06 20:38983713 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 synonymous_variant 1.962238 0.95207 0.10811 0.706298 0.4471758 0 9.692738e-11 FALSE 4.06362e-06 ENSE00001726243_008 ENSE00001726243 008 20 37612291 37612460 + 51 78 41 G T 37612357 1222 67 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCTGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983713 38983714 38983714 exon 16 0.2051282 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCTGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 3350 199 0.9811767 0.9992044 0.9901905 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.1877253 0.09429241 0.9933086 0.8491817 NA 0.1410088 NA FALSE NA 1 8.348 NA NA NA DHX35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:38983714 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 missense_variant 6.545612 0.99275 0.98283 0.706298 0.9958451 0 9.692738e-11 FALSE 4.06306e-06 ENSE00001726243_009 ENSE00001726243 009 20 37612291 37612460 + 51 78 41 G T 37612358 1223 68 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGTCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983714 38983715 38983715 exon 17 0.2179487 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGTCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 1402 1028 0.7429747 0.8683845 0.8056796 0.9932784 0.9933389 0.7934514 0.904912 NA NA -0.05047671 -0.0365275 0.9933086 0.8491817 NA -0.0435021 NA FALSE NA 1 8.348 . missense_variant MODERATE DHX35 HGNC 15861 ENST00000252011 4/22 1 deleterious(0) probably_damaging(0.995) NA GGC G,T 8.236e-06 20:38983715 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 missense_variant 5.644254 0.99275 0.98283 0.706298 0.9967781 0 9.692738e-11 FALSE 8.12645e-06 ENSE00001726243_010 ENSE00001726243 010 20 37612291 37612460 + 51 78 41 C T 37612367 1224 77 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGTTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983723 38983724 38983724 exon 26 0.3333333 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGTTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 1262 465 0.9896867 0.9856466 0.9876667 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.1962353 0.08073458 0.9933086 0.8491817 NA 0.138485 NA FALSE NA 1 6.653 . missense_variant MODERATE DHX35 HGNC 15861 ENST00000252011 4/22 1 tolerated(0.13) benign(0.356) NA GCT C,T 8.236e-06 20:38983724 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 missense_variant 1.721734 0.98478 0.95773 0.706298 0.9886324 0 9.692738e-11 FALSE 4.06243e-06 ENSE00001726243_011 ENSE00001726243 011 20 37612291 37612460 + 51 78 41 G A 37612369 1225 79 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTAAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983725 38983726 38983726 exon 28 0.3589744 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTAAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 102 103 0.9898962 0.9930596 0.9914779 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.1964449 0.08814758 0.9933086 0.8491817 NA 0.1422962 NA FALSE NA 1 8.348 . missense_variant MODERATE DHX35 HGNC 15861 ENST00000252011 4/22 1 tolerated(0.37) benign(0.038) NA TGA G,A 3.295e-05 20:38983726 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 missense_variant 1.495293 0.98717 0.97209 0.706298 0.9079723 0 9.692738e-11 FALSE 1.62489e-05 ENSE00001726243_012 ENSE00001726243 012 20 37612291 37612460 + 51 78 41 C A 37612391 1226 101 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGAACCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983747 38983748 38983748 exon -29 0.6410256 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGAACCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 2374 485 0.9954434 0.9984851 0.9969642 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.201992 0.09357304 0.9933086 0.8491817 NA 0.1477825 NA FALSE NA 1 6.653 . missense_variant MODERATE DHX35 HGNC 15861 ENST00000252011 4/22 1 deleterious(0) probably_damaging(0.973) NA ACC C,A 8.237e-06 20:38983748 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 missense_variant 6.52432 0.99265 0.97479 0.706298 0.9932292 0 9.692738e-11 FALSE 2.03183e-05 ENSE00001726243_013 ENSE00001726243 013 20 37612291 37612460 + 51 78 41 A G 37612394 1227 104 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCGGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983750 38983751 38983751 exon -26 0.6794872 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCGGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 190 129 0.9859963 1 0.9929982 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.1925449 0.09508798 0.9933086 0.8491817 NA 0.1438165 NA FALSE NA 1 7.911 . missense_variant MODERATE DHX35 HGNC 15861 ENST00000252011 4/22 1 deleterious(0) probably_damaging(0.971) NA CAG A,G 8.237e-06 20:38983751 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 missense_variant 5.999124 0.99032 0.97969 0.706298 0.998543 0 9.692738e-11 FALSE 4.06326e-06 ENSE00001726243_014 ENSE00001726243 014 20 37612291 37612460 + 51 78 41 G A 37612395 1228 105 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAACCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983751 38983752 38983752 exon -25 0.6923077 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAACCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 14 1464 0.9773525 0.9986896 0.988021 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.1839011 0.09377754 0.9933086 0.8491817 NA 0.1388393 NA FALSE NA 1 5.437 . synonymous_variant LOW DHX35 HGNC 15861 ENST00000252011 4/22 1 NA AGC G,A 8.237e-06 20:38983752 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 synonymous_variant 0.985191 0.97813 0.92043 0.706298 0.6213495 0 9.692738e-11 FALSE NA ENSE00001726243_016 ENSE00001726243 016 20 37612291 37612460 + 51 78 41 G A 37612400 1230 110 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCAAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983756 38983757 38983757 exon -20 0.7564103 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCAAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 1614 4898 0.8716872 0.9398 0.9057436 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.07823581 0.03488797 0.9933086 0.8491817 NA 0.05656189 NA FALSE NA 1 8.348 . missense_variant MODERATE DHX35 HGNC 15861 ENST00000252011 4/22 rs541146032 1 deleterious(0) probably_damaging(0.999) NA CGA G,A 7.413e-05 20:38983757 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 missense_variant 7.90166 0.99231 0.97945 0.706298 0.9994803 0 9.692738e-11 FALSE 5.28558e-05 ENSE00001726243_017 ENSE00001726243 017 20 37612291 37612460 + 51 78 41 T C 37612410 1231 120 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCCGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983766 38983767 38983767 exon -10 0.8846154 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCCGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 450 520 0.8427945 1 0.9213972 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.04934311 0.09508798 0.9933086 0.8491817 NA 0.07221554 NA FALSE NA 0.929 -0.292 . synonymous_variant LOW DHX35 HGNC 15861 ENST00000252011 4/22 1 NA CTG T,C 8.237e-06 20:38983767 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 synonymous_variant 1.026077 0.95612 0.52236 0.706298 0.7925787 0 9.692738e-11 FALSE 4.0715e-06 ENSE00001726243_018 ENSE00001726243 018 20 37612291 37612460 + 51 78 41 T A 37612416 1232 126 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTAACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983772 38983773 38983773 exon -4 0.9615385 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTAACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 737 971 0.9993841 0.9961464 0.9977653 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.2059328 0.09123442 0.9933086 0.8491817 NA 0.1485836 NA FALSE NA 0.792 -0.39 . synonymous_variant LOW DHX35 HGNC 15861 ENST00000252011 4/22 1 NA TTA T,A 8.237e-06 20:38983773 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 synonymous_variant 1.574241 0.94511 0.49099 0.706298 0.7562399 0 9.692738e-11 FALSE 4.08273e-06 ENSE00001726243_019 ENSE00001726243 019 20 37612291 37612460 + 51 78 41 T A 37612427 1233 137 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTACTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983783 38983784 38983784 downstr_intron 8 1.2 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTACTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 587 703 1 1 1 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.2065486 0.09508798 0.9933086 0.8491817 NA 0.1508183 NA FALSE NA 0.991 0.826 . splice_region_variant&intron_variant LOW DHX35 HGNC 15861 ENST00000252011 4/21 rs549920708 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TTC T,A 8.237e-06 20:38983784 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 splice_region_variant 1.690241 0.90498 0.49498 0.088506 0.8577146 0.284609 9.692738e-11 FALSE 4.12086e-06 ENSE00001726243_020 ENSE00001726243 020 20 37612291 37612460 + 51 78 41 C G 37612428 1234 138 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTGTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 38983784 38983785 38983785 downstr_intron 9 1.225 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTGTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 347 390 1 0.9999024 0.9999512 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.2065486 0.09499034 0.9933086 0.8491817 NA 0.1507695 NA FALSE NA 0.97 0.336 . intron_variant MODIFIER DHX35 HGNC 15861 ENST00000252011 4/21 rs569818872 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 TCT C,G 1.647e-05 20:38983785 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 intron_variant 2.256767 0.81817 0.28324 0.088506 0.7390656 0.284609 9.692738e-11 FALSE 8.25409e-06 ENSE00001726243_022 ENSE00001726243 022 20 37612291 37612460 + 51 78 41 C G 37612448 1236 158 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTGTATCTGTGTTGT 38983647 38983817 38983804 38983805 38983805 downstr_intron 29 1.725 GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTGTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT mutant NA NA NA NA NA 1043 861 0.9232558 0.9821046 0.9526802 0.9932784 0.9933389 0.7934514 0.904912 NA NA 0.1298044 0.07719257 0.9933086 0.8491817 NA 0.1034985 NA FALSE NA 0 -0.06 . intron_variant MODIFIER DHX35 HGNC 15861 ENST00000252011 4/21 1 NA TCT C,G 8.24e-06 20:38983805 DHX35 HGNC Symbol protein_coding 77424 ENSG00000101452 ENSE00001726243 intron_variant 0.139595 0.20311 0.04347 0.088506 0.6214164 0.0499416 9.692738e-11 FALSE 4.41388e-06 ENSE00001726243_BRK ENSE00001726243 BRK 20 37612291 37612460 + 51 78 41 A,G; T,T NA NA NA GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTTTTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACACCGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT 38983647 38983817 NA NA NA NA NA NA GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTTTTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACACCGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT GCTCTGCAAAAGTGGTATCATATGTATACTTAGATGTGATTTTGTTTGTAGTACCTTGCAGAAGCCGGCTGGACAGCTGAAGGAAGAGTGGTAGGAGTGACCCAGCCTCGAAGAGTGGCTGCTGTTACAGTGAGTTTCTTTTTGTGTTGGAAAGATTCTATCTGTGTTGT control 16 19 0.979521 0.9598229 0.9696719 NA NA NA NA NA 0.9932784 0.9933389 0.7934514 0.904912 -0.01375741 -0.03351597 NA NA 0.9933086 0.8491817 -0.02363669 NA NA NA FALSE NA NA NA NA NA DHX35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DHX35 NA NA NA ENSG00000101452 ENSE00001726243 NA NA NA NA NA NA NA 9.692738e-11 FALSE NA ENSE00001726331_000 ENSE00001726331 000 6 11188416 11188585 - 35 90 45 NA NA NA NA NA CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 NA NA NA NA NA NA ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG natural NA NA NA NA NA 4534 3712 0.9829936 0.9959974 0.9894955 NA NA 0.9829936 0.9959974 NA NA 0 0 NA 0.9894955 NA 0 NA FALSE NA NA NA NA NA NA NEDD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEDD9 NA NA NA ENSG00000111859 ENSE00003549051 NA NA NA NA NA NA NA 0.5349811 FALSE NA ENSE00001726331_BRK ENSE00001726331 BRK 6 11188416 11188585 - 35 90 45 A,G; T,T NA NA NA CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTGGCTGATGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCAAGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 NA NA NA NA NA NA ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACTTGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGCCAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG control 360 71 0 0 0 NA NA NA NA NA NA NA 0.9829936 0.9959974 NA NA NA NA NA 0.9894955 NA NA NA NA NA NA NA NA NA NA NEDD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEDD9 NA NA NA ENSG00000111859 ENSE00003549051 NA NA NA NA NA NA NA 0.5349811 FALSE NA ENSE00001726906_000 ENSE00001726906 000 X 49963276 49963445 - 32 96 42 NA NA NA NA NA TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 NA NA NA NA NA NA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA natural 28 52 0.9841731 0.9991368 0.9916549 4778 2379 0.9959848 0.9204238 0.9582043 0.9841731 0.9991368 0.9959848 0.9204238 0 0 0 0 0.9916549 0.9582043 0 0 0 FALSE FALSE NA NA NA NA NA AKAP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AKAP4 NA NA NA ENSG00000147081 ENSE00003759971 NA NA NA NA NA NA NA 0.9843778 TRUE NA ENSE00001726906_001 ENSE00001726906 001 X 49963276 49963445 - 32 96 42 A C 49963287 492 159 TACTCCTCGGCCTGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198635 50198636 50198636 downstr_intron 21 1.677419 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCAGGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 213 318 0.9897709 1 0.9948854 0.9841731 0.9991368 0.9959848 0.9204238 NA NA -0.006213922 0.07957616 0.9916549 0.9582043 NA 0.03668112 NA FALSE NA 0.001 0.23 . intron_variant MODIFIER AKAP4 HGNC 374 ENST00000448865 2/5 1 NA CAT A,C 1.648e-05 X:50198636 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 intron_variant -0.326115 0.68441 0.02839 0 0.5603154 0.148476 0.9843778 TRUE 1.16962e-05 ENSE00001726906_002 ENSE00001726906 002 X 49963276 49963445 - 32 96 42 T C 49963300 493 146 TACTCCTCGGCATGAGTCATTTTTCATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198648 50198649 50198649 downstr_intron 8 1.258065 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATGAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 247 257 0.9646892 0.9975305 0.9811098 0.9841731 0.9991368 0.9959848 0.9204238 NA NA -0.03129562 0.07710661 0.9916549 0.9582043 NA 0.02290549 NA FALSE NA 0.061 0.432 . splice_region_variant&intron_variant LOW AKAP4 HGNC 374 ENST00000448865 2/5 1 NA TTA T,C 0.0001812 X:50198649 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 splice_region_variant 0.033256 0.69556 0.02163 0 0.7381878 0.262482 0.9843778 TRUE 0.000137397 ENSE00001726906_003 ENSE00001726906 003 X 49963276 49963445 - 32 96 42 C T 49963315 494 131 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCTGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198663 50198664 50198664 exon -8 0.9270833 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCAGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 88 129 1 0.9793688 0.9896844 0.9841731 0.9991368 0.9959848 0.9204238 NA NA 0.004015228 0.05894498 0.9916549 0.9582043 NA 0.0314801 NA FALSE NA 0.98 1.668 . missense_variant MODERATE AKAP4 HGNC 374 ENST00000448865 2/6 1 tolerated(0.22) possibly_damaging(0.618) NA CCG C,T 3.295e-05 X:50198664 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 missense_variant 3.59419 0.98754 0.32583 0 0.9970437 0 0.9843778 TRUE 5.67437e-05 ENSE00001726906_004 ENSE00001726906 004 X 49963276 49963445 - 32 96 42 C T 49963320 495 126 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCTTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198668 50198669 50198669 exon -13 0.875 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAAGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 163 128 1 1 1 0.9841731 0.9991368 0.9959848 0.9204238 NA NA 0.004015228 0.07957616 0.9916549 0.9582043 NA 0.04179569 NA FALSE NA 0.998 0.153 . synonymous_variant LOW AKAP4 HGNC 374 ENST00000448865 2/6 1 NA CCT C,T 8.237e-06 X:50198669 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 synonymous_variant 0.866411 0.98489 0.22402 0 0.8018118 0 0.9843778 TRUE NA ENSE00001726906_006 ENSE00001726906 006 X 49963276 49963445 - 32 96 42 T G 49963326 497 120 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCGTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198674 50198675 50198675 exon -19 0.8125 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCACGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 333 909 0.99636 1 0.99818 0.9841731 0.9991368 0.9959848 0.9204238 NA NA 0.0003752232 0.07957616 0.9916549 0.9582043 NA 0.03997569 NA FALSE NA 0.993 0.995 . missense_variant MODERATE AKAP4 HGNC 374 ENST00000448865 2/6 1 deleterious(0.05) benign(0.257) NA CTT T,G 8.237e-06 X:50198675 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 missense_variant 1.42866 0.99135 0.38304 0 0.9885721 0 0.9843778 TRUE 2.82385e-05 ENSE00001726906_007 ENSE00001726906 007 X 49963276 49963445 - 32 96 42 G A 49963339 498 107 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTAGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198687 50198688 50198688 exon -32 0.6770833 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCTAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 725 650 0.9900315 0.996224 0.9931278 0.9841731 0.9991368 0.9959848 0.9204238 NA NA -0.005953223 0.07580017 0.9916549 0.9582043 NA 0.03492347 NA FALSE NA 0.999 3.381 . missense_variant MODERATE AKAP4 HGNC 374 ENST00000448865 2/6 1 deleterious(0) probably_damaging(0.991) NA TGG G,A 2.471e-05 X:50198688 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 missense_variant 3.857215 0.98686 0.44365 0 0.9858741 0 0.9843778 TRUE 1.12772e-05 ENSE00001726906_009 ENSE00001726906 009 X 49963276 49963445 - 32 96 42 C T 49963352 500 94 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATTTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198700 50198701 50198701 exon -45 0.5416667 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAAATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 479 101 0.9957409 1 0.9978704 0.9841731 0.9991368 0.9959848 0.9204238 NA NA -0.0002439201 0.07957616 0.9916549 0.9582043 NA 0.03966612 NA FALSE NA 1 3.889 . missense_variant MODERATE AKAP4 HGNC 374 ENST00000448865 2/6 1 tolerated(0.1) probably_damaging(0.998) NA TCT C,T 1.647e-05 X:50198701 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 missense_variant 4.001407 0.99176 0.48098 0 0.989429 0 0.9843778 TRUE NA ENSE00001726906_010 ENSE00001726906 010 X 49963276 49963445 - 32 96 42 A G 49963354 501 92 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTGCCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198702 50198703 50198703 exon -47 0.5208333 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGCAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 274 581 0.9884328 1 0.9942164 0.9841731 0.9991368 0.9959848 0.9204238 NA NA -0.007551975 0.07957616 0.9916549 0.9582043 NA 0.03601209 NA FALSE NA 1 4.657 . missense_variant MODERATE AKAP4 HGNC 374 ENST00000448865 2/6 1 deleterious(0) probably_damaging(0.996) NA TAC A,G 7.413e-05 X:50198703 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 missense_variant 4.809396 0.99105 0.55251 0 0.9918736 0 0.9843778 TRUE 6.1997e-05 ENSE00001726906_011 ENSE00001726906 011 X 49963276 49963445 - 32 96 42 C T 49963362 502 84 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCATACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198710 50198711 50198711 exon 42 0.4375 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTATGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 355 329 0.9946217 0.9984672 0.9965445 0.9841731 0.9991368 0.9959848 0.9204238 NA NA -0.0013631 0.0780434 0.9916549 0.9582043 NA 0.03834015 NA FALSE NA 0.979 0.125 . synonymous_variant LOW AKAP4 HGNC 374 ENST00000448865 2/6 1 NA ACA C,T 8.237e-06 X:50198711 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 synonymous_variant 0.408992 0.96406 0.17051 0 0.6705878 0 0.9843778 TRUE 1.12894e-05 ENSE00001726906_013 ENSE00001726906 013 X 49963276 49963445 - 32 96 42 C A 49963367 504 79 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACACCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198715 50198716 50198716 exon 37 0.3854167 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGTGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 388 184 0.8183419 0.9991395 0.9087407 0.9841731 0.9991368 0.9959848 0.9204238 NA NA -0.1776428 0.07871566 0.9916549 0.9582043 NA -0.04946358 NA FALSE NA 0.227 1.671 . missense_variant MODERATE AKAP4 HGNC 374 ENST00000448865 2/6 1 deleterious(0) possibly_damaging(0.594) NA CCC C,A 1.647e-05 X:50198716 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 missense_variant 2.330184 0.91996 0.09411 0 0.9739733 0 0.9843778 TRUE 2.2617e-05 ENSE00001726906_016 ENSE00001726906 016 X 49963276 49963445 - 32 96 42 G A 49963379 507 67 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCATAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198727 50198728 50198728 exon 25 0.2604167 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTATGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 12 145 1 1 1 0.9841731 0.9991368 0.9959848 0.9204238 NA NA 0.004015228 0.07957616 0.9916549 0.9582043 NA 0.04179569 NA FALSE NA 1 4.922 . missense_variant MODERATE AKAP4 HGNC 374 ENST00000448865 2/6 1 deleterious(0) probably_damaging(0.944) NA CGT G,A 4.119e-05 X:50198728 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 missense_variant 6.372617 0.9912 0.54994 0 0.9961879 0 0.9843778 TRUE NA ENSE00001726906_018 ENSE00001726906 018 X 49963276 49963445 - 32 96 42 A G 49963398 509 48 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCGGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198746 50198747 50198747 exon 6 0.0625 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCCGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 52 264 1 0.9746514 0.9873257 0.9841731 0.9991368 0.9959848 0.9204238 NA NA 0.004015228 0.0542276 0.9916549 0.9582043 NA 0.02912142 NA FALSE NA 1 4.657 . synonymous_variant LOW AKAP4 HGNC 374 ENST00000448865 2/6 1 NA CAG A,G 4.12e-05 X:50198747 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 synonymous_variant 0.170644 0.99033 0.53717 0 0.8502343 0 0.9843778 TRUE 1.73353e-05 ENSE00001726906_019 ENSE00001726906 019 X 49963276 49963445 - 32 96 42 A C 49963410 510 36 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAACGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 50198758 50198759 50198759 upstr_intron -7 -0.1428571 CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCGTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 2230 1515 1 0.9985552 0.9992776 0.9841731 0.9991368 0.9959848 0.9204238 NA NA 0.004015228 0.07813134 0.9916549 0.9582043 NA 0.04107328 NA FALSE NA 0.037 0.087 . splice_region_variant&intron_variant LOW AKAP4 HGNC 374 ENST00000448865 1/5 1 NA AAG A,C 3.297e-05 X:50198759 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 splice_region_variant -0.178705 0.6383 0.02064 0 0.784018 0.211536 0.9843778 TRUE 2.98114e-05 ENSE00001726906_021 ENSE00001726906 021 X 49963276 49963445 - 32 96 42 A G 49963431 512 15 TACTCCTCGGCATGAGTCATTTTTTATCTTACCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATCTGGAAAGAGAAAGAAAAGAAAGCTGAGATGCTTATATATGG 50198624 50198794 50198779 50198780 50198780 upstr_intron -28 -0.6428571 CCATATATAAGCATCTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA mutant NA NA NA NA NA 1341 199 0.9670224 0.9901052 0.9785638 0.9841731 0.9991368 0.9959848 0.9204238 NA NA -0.02896235 0.06968131 0.9916549 0.9582043 NA 0.02035948 NA FALSE NA 0.011 0.515 . intron_variant MODIFIER AKAP4 HGNC 374 ENST00000448865 1/5 1 NA AAA A,G 3.311e-05 X:50198780 AKAP4 HGNC Symbol protein_coding 10245 ENSG00000147081 ENSE00003759971 intron_variant -0.258985 0.84284 0.05218 0 0.6016475 0.0803246 0.9843778 TRUE 1.31247e-05 ENSE00001726906_BRK ENSE00001726906 BRK X 49963276 49963445 - 32 96 42 A,G; T,T NA NA NA TACTCCTCGGCATGAGTCATTTTTTATCTTGGCACTTTCCGGTCCTGATCTTGCTGTCCTTCTGGGTTGTAGAGATCTACCTTGCACACACCCCTGTGGCTGCGTAACCAGTCAATATCATCAGACATAAGGAAAGAGAAAGAAAAGAAAGCTGAAATGCTTATATATGG 50198624 50198794 NA NA NA NA NA NA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCTTATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGCCAAGATAAAAAATGACTCATGCCGAGGAGTA CCATATATAAGCATTTCAGCTTTCTTTTCTTTCTCTTTCCAGATGTCTGATGATATTGACTGGTTACGCAGCCACAGGGGTGTGTGCAAGGTAGATCTCTACAACCCAGAAGGACAGCAAGATCAGGACCGGAAAGTGGTAAGATAAAAAATGACTCATGCCGAGGAGTA control 101 55 0 0 0 NA NA NA NA NA 0.9841731 0.9991368 0.9959848 0.9204238 -0.9841731 -0.9991368 NA NA 0.9916549 0.9582043 -0.9916549 NA NA NA TRUE NA NA NA NA NA AKAP4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AKAP4 NA NA NA ENSG00000147081 ENSE00003759971 NA NA NA NA NA NA NA 0.9843778 TRUE NA ENSE00001727061_000 ENSE00001727061 000 19 19455607 19455776 + 51 78 41 NA NA NA NA NA CATTCTGGATTCTCCCGGGGTGTTGTCACAGGGTTACTCACCAGCAATGTGTGCAGCTGTGCTGCATGGTTGGAGAAGAGCCGGGGGGACTGCTGGCACAGCTGGCAGACCTGGGAGATCTGCCGGGAGAGAGTGTACTGCCATCACAGGACTGCAACCTGGGACCTGGC 19344797 19344967 NA NA NA NA NA NA GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG natural 204 161 0.9887201 0.9949265 0.9918233 538 746 0.7612471 0.8153871 0.7883171 0.9887201 0.9949265 0.7612471 0.8153871 0 0 0 0 0.9918233 0.7883171 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAU2 NA NA NA ENSG00000129933 ENSE00003550138 NA NA NA NA NA NA NA 0.9997178 TRUE NA ENSE00001727061_007 ENSE00001727061 007 19 19455607 19455776 + 51 78 41 C A 19455689 1860 83 CATTCTGGATTCTCCCGGGGTGTTGTCACAGGGTTACTCACCAGCAATGTGTGCAGCTGTGCTGCATGGTTGGAGAAGAGCCGGGGGTACTGCTGGCACAGCTGGCAGACCTGGGAGATCTGCCGGGAGAGAGTGTACTGCCATCACAGGACTGCAACCTGGGACCTGGC 19344797 19344967 19344879 19344880 19344880 exon 32 0.4102564 GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTACCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG mutant NA NA NA NA NA 76 83 1 0.9784423 0.9892212 0.9887201 0.9949265 0.7612471 0.8153871 NA NA 0.2387529 0.1630552 0.9918233 0.7883171 NA 0.2009041 NA FALSE NA 1 7.514 NA NA NA MAU2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:19344880 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00003550138 missense_variant 5.111451 0.99341 0.99785 0.706548 0.9926469 0 0.9997178 TRUE 8.14286e-06 ENSE00001727061_012 ENSE00001727061 012 19 19455607 19455776 + 51 78 41 T C 19455730 1865 124 CATTCTGGATTCTCCCGGGGTGTTGTCACAGGGTTACTCACCAGCAGTGTGTGCAGCTGTGCTGCATGGTTGGAGAAGAGCCGGGGGGACTGCTGGCACAGCTGGCAGACCTGGGAGATCTGCCGGGAGAGAGTGTACTGCCATCACAGGACTGCAACCTGGGACCTGGC 19344797 19344967 19344920 19344921 19344921 exon -6 0.9358974 GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACACTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG mutant NA NA NA NA NA 648 59 0.01136665 0.008637967 0.01000231 0.9887201 0.9949265 0.7612471 0.8153871 NA NA -0.7498804 -0.8067491 0.9918233 0.7883171 NA -0.7783148 NA TRUE NA 0.976 2.242 . upstream_gene_variant MODIFIER MAU2 HGNC 29140 ENST00000589947 1 NA ATT T,C 8.27e-06 19:19344921 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00003550138 synonymous_variant 0.499264 0.85479 0.08273 0.706548 0.7503006 0 0.9997178 TRUE 4.06858e-06 ENSE00001727061_013 ENSE00001727061 013 19 19455607 19455776 + 51 78 41 G A 19455738 1866 132 CATTCTGGATTCTCCCGGGGTGTTGTCACAGGGTTACTTACCAGCAATGTGTGCAGCTGTGCTGCATGGTTGGAGAAGAGCCGGGGGGACTGCTGGCACAGCTGGCAGACCTGGGAGATCTGCCGGGAGAGAGTGTACTGCCATCACAGGACTGCAACCTGGGACCTGGC 19344797 19344967 19344928 19344929 19344929 downstr_intron 3 1.075 GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTAAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG mutant NA NA NA NA NA 234 57 0.8531267 0.9401113 0.896619 0.9887201 0.9949265 0.7612471 0.8153871 NA NA 0.09187959 0.1247242 0.9918233 0.7883171 NA 0.1083019 NA FALSE NA 1 1.411 . upstream_gene_variant MODIFIER MAU2 HGNC 29140 ENST00000589947 1 NA TGA G,A 2.481e-05 19:19344929 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00003550138 splice_region_variant 1.700696 0.97309 0.94049 0.069865 0.8668686 0.534121 0.9997178 TRUE 1.62866e-05 ENSE00001727061_016 ENSE00001727061 016 19 19455607 19455776 + 51 78 41 C T 19455746 1869 140 CATTCTGGATTCTCCCGGGGTGTTGTCACAAGGTTACTCACCAGCAATGTGTGCAGCTGTGCTGCATGGTTGGAGAAGAGCCGGGGGGACTGCTGGCACAGCTGGCAGACCTGGGAGATCTGCCGGGAGAGAGTGTACTGCCATCACAGGACTGCAACCTGGGACCTGGC 19344797 19344967 19344936 19344937 19344937 downstr_intron 11 1.275 GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCTTGTGACAACACCCCGGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG mutant NA NA NA NA NA 39 119 1 0.843864 0.921932 0.9887201 0.9949265 0.7612471 0.8153871 NA NA 0.2387529 0.02847688 0.9918233 0.7883171 NA 0.1336149 NA FALSE NA 0 -0.212 rs60890167 upstream_gene_variant MODIFIER MAU2 HGNC 29140 ENST00000589947 rs60890167 1 T:0.0020 T:0.0008 T:0 NA T:0.005 T:0 T:0.0041 T:0.0005 T:0 CCT C,T 0.0006202 19:19344937 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00003550138 non_coding_transcript_exon_variant 0.112792 0.27474 0.01743 0.069865 0.6995947 0.0653316 0.9997178 TRUE 0.000607162 ENSE00001727061_021 ENSE00001727061 021 19 19455607 19455776 + 51 78 41 C T 19455760 1874 154 CATTCTGGATTCTCCCAGGGTGTTGTCACAGGGTTACTCACCAGCAATGTGTGCAGCTGTGCTGCATGGTTGGAGAAGAGCCGGGGGGACTGCTGGCACAGCTGGCAGACCTGGGAGATCTGCCGGGAGAGAGTGTACTGCCATCACAGGACTGCAACCTGGGACCTGGC 19344797 19344967 19344950 19344951 19344951 downstr_intron 25 1.625 GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCTGGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG mutant NA NA NA NA NA 29 117 0.8176312 0.8169865 0.8173088 0.9887201 0.9949265 0.7612471 0.8153871 NA NA 0.05638411 0.001599369 0.9918233 0.7883171 NA 0.02899174 NA FALSE NA 0 -0.171 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:19344951 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00003550138 non_coding_transcript_exon_variant -0.095456 0.13781 0.01084 0.099367 0.6433399 0.0735368 0.9997178 TRUE 0.000114714 ENSE00001727061_022 ENSE00001727061 022 19 19455607 19455776 + 51 78 41 C G 19455760 1875 154 CATTCTGGATTCTCCCCGGGTGTTGTCACAGGGTTACTCACCAGCAATGTGTGCAGCTGTGCTGCATGGTTGGAGAAGAGCCGGGGGGACTGCTGGCACAGCTGGCAGACCTGGGAGATCTGCCGGGAGAGAGTGTACTGCCATCACAGGACTGCAACCTGGGACCTGGC 19344797 19344967 19344950 19344951 19344951 downstr_intron 25 1.625 GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCGGGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG mutant NA NA NA NA NA 134 50 0.9996925 1 0.9998462 0.9887201 0.9949265 0.7612471 0.8153871 NA NA 0.2384454 0.1846129 0.9918233 0.7883171 NA 0.2115291 NA FALSE NA 0 -0.171 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAU2 NA NA NA ENSG00000129933 ENSE00003550138 non_coding_transcript_exon_variant -0.226938 0.14058 0.01548 0.099367 0.5265333 0.0735368 0.9997178 TRUE 2.86784e-05 ENSE00001727061_024 ENSE00001727061 024 19 19455607 19455776 + 51 78 41 G C 19455761 1877 155 CATTCTGGATTCTCCGGGGGTGTTGTCACAGGGTTACTCACCAGCAATGTGTGCAGCTGTGCTGCATGGTTGGAGAAGAGCCGGGGGGACTGCTGGCACAGCTGGCAGACCTGGGAGATCTGCCGGGAGAGAGTGTACTGCCATCACAGGACTGCAACCTGGGACCTGGC 19344797 19344967 19344951 19344952 19344952 downstr_intron 26 1.65 GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCCGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG mutant NA NA NA NA NA 16 30 1 0.95 0.975 0.9887201 0.9949265 0.7612471 0.8153871 NA NA 0.2387529 0.1346129 0.9918233 0.7883171 NA 0.1866829 NA FALSE NA 0 0.114 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:19344952 MAU2 HGNC Symbol protein_coding 38074 ENSG00000129933 ENSE00003550138 non_coding_transcript_exon_variant -0.316958 0.11281 0.01755 0.099367 0.5502233 0.0735368 0.9997178 TRUE 4.09772e-06 ENSE00001727061_BRK ENSE00001727061 BRK 19 19455607 19455776 + 51 78 41 A,G; T,T NA NA NA GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCTTATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGCCGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG 19344797 19344967 NA NA NA NA NA NA GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCTTATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGCCGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG GCCAGGTCCCAGGTTGCAGTCCTGTGATGGCAGTACACTCTCTCCCGGCAGATCTCCCAGGTCTGCCAGCTGTGCCAGCAGTCCCCCCGGCTCTTCTCCAACCATGCAGCACAGCTGCACACATTGCTGGTGAGTAACCCTGTGACAACACCCCGGGAGAATCCAGAATG control 674 170 0 0 0 1567 170 0.009362496 0 0.004681248 0.9887201 0.9949265 0.7612471 0.8153871 -0.9887201 -0.9949265 -0.7518846 -0.8153871 0.9918233 0.7883171 -0.9918233 -0.7836358 0.2081874 TRUE TRUE NA NA NA NA NA MAU2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAU2 NA NA NA ENSG00000129933 ENSE00003550138 NA NA NA NA NA NA NA 0.9997178 TRUE NA ENSE00001727123_000 ENSE00001727123 000 22 35812275 35812444 + 57 66 47 NA NA NA NA NA TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 NA NA NA NA NA NA TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG natural 50 49 0.9808295 0.9875274 0.9841784 1040 828 0.9211575 0.9764037 0.9487806 0.9808295 0.9875274 0.9211575 0.9764037 0 0 0 0 0.9841784 0.9487806 0 0 0 FALSE FALSE NA NA NA NA NA MCM5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MCM5 NA NA NA ENSG00000100297 ENSE00003550023 NA NA NA NA NA NA NA 0.5636925 FALSE NA ENSE00001727123_002 ENSE00001727123 002 22 35812275 35812444 + 57 66 47 C T 35812295 725 21 TGCTCCCTGCTCCCTCACTTTAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416301 35416302 35416302 upstr_intron -37 -0.6315789 TGCTCCCTGCTCCCTCACTTTAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 167 123 0.9947073 1 0.9973536 0.9808295 0.9875274 0.9211575 0.9764037 NA NA 0.07354979 0.02359629 0.9841784 0.9487806 NA 0.04857304 NA FALSE NA 0 0.682 . intron_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 4/5 1 NA TCA C,T 8.236e-06 22:35416302 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 intron_variant -0.037149 0.22605 0.05085 0.256867 0.5078434 0.0448725 0.5636925 FALSE 8.14651e-06 ENSE00001727123_003 ENSE00001727123 003 22 35812275 35812444 + 57 66 47 T C 35812298 726 24 TGCTCCCTGCTCCCTCACTTCAGCAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416304 35416305 35416305 upstr_intron -34 -0.5789474 TGCTCCCTGCTCCCTCACTTCAGCAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 348 448 0.9983325 0.996528 0.9974303 0.9808295 0.9875274 0.9211575 0.9764037 NA NA 0.07717505 0.02012433 0.9841784 0.9487806 NA 0.04864969 NA FALSE NA 0 -0.656 . intron_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 4/5 1 NA GTA T,C 8.236e-06 22:35416305 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 intron_variant 0.19016 0.23298 0.03942 0.256867 0.4448221 0.0448725 0.5636925 FALSE 4.07063e-06 ENSE00001727123_008 ENSE00001727123 008 22 35812275 35812444 + 57 66 47 A G 35812342 731 68 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGGTGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416348 35416349 35416349 exon 11 0.1666667 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGGTGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 456 155 0.9945788 0.9862816 0.9904302 0.9808295 0.9875274 0.9211575 0.9764037 NA NA 0.07342128 0.009877886 0.9841784 0.9487806 NA 0.04164958 NA FALSE NA 0.99 3.86 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 5/6 rs201287456 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GAT A,G 8.236e-06 22:35416349 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 missense_variant 4.497573 0.96154 0.97635 0.706548 0.991783 0 0.5636925 FALSE 4.06296e-06 ENSE00001727123_009 ENSE00001727123 009 22 35812275 35812444 + 57 66 47 C T 35812347 732 73 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACTGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416353 35416354 35416354 exon 16 0.2424242 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACTGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 49 124 0.8001771 1 0.9000886 0.9808295 0.9875274 0.9211575 0.9764037 NA NA -0.1209803 0.02359629 0.9841784 0.9487806 NA -0.04869203 NA FALSE NA 0.998 0.621 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 5/6 rs376956267 1 NA T:0.0002 T:0 CCG C,T 1.647e-05 22:35416354 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 missense_variant 8.136508 0.94701 0.96095 0.706548 0.9994627 0 0.5636925 FALSE 1.21899e-05 ENSE00001727123_010 ENSE00001727123 010 22 35812275 35812444 + 57 66 47 G T 35812348 733 74 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCTTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416354 35416355 35416355 exon 17 0.2575758 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCTTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 448 663 0.9979413 0.9939891 0.9959652 0.9808295 0.9875274 0.9211575 0.9764037 NA NA 0.07678377 0.01758539 0.9841784 0.9487806 NA 0.04718458 NA FALSE NA 1 9.474 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 5/6 rs369168183&COSM4103770 1 NA T:0.0002 T:0 CGT G,T 8.236e-06 22:35416355 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 missense_variant 8.183105 0.98538 0.99473 0.706548 0.9987079 0 0.5636925 FALSE NA ENSE00001727123_015 ENSE00001727123 015 22 35812275 35812444 + 57 66 47 T C 35812369 738 95 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCACGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416375 35416376 35416376 exon -29 0.5757576 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCACGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 528 317 0.8402568 1 0.9201284 0.9808295 0.9875274 0.9211575 0.9764037 NA NA -0.08090068 0.02359629 0.9841784 0.9487806 NA -0.02865219 NA FALSE NA 1 7.731 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 5/6 1 NA ATG T,C 8.236e-06 22:35416376 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 missense_variant 5.978493 0.97477 0.98512 0.706548 0.9938496 0 0.5636925 FALSE 4.06395e-06 ENSE00001727123_017 ENSE00001727123 017 22 35812275 35812444 + 57 66 47 A G 35812389 740 115 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTGTCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416395 35416396 35416396 exon -9 0.8787879 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTGTCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 196 17 1 0.8 0.9 0.9808295 0.9875274 0.9211575 0.9764037 NA NA 0.07884251 -0.1764037 0.9841784 0.9487806 NA -0.0487806 NA FALSE NA 1 7.103 rs146948801 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 5/6 rs146948801 1 G:0.0022 G:0.0076 G:0.0014 NA G:0 G:0 G:0 G:0.0025 G:0.0001 TAT A,G 0.0003212 22:35416396 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 missense_variant 5.363862 0.96411 0.98029 0.706548 0.9988131 0 0.5636925 FALSE 0.000264419 ENSE00001727123_018 ENSE00001727123 018 22 35812275 35812444 + 57 66 47 C T 35812391 741 117 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATTGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416397 35416398 35416398 exon -7 0.9090909 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATTGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 430 269 1 1 1 0.9808295 0.9875274 0.9211575 0.9764037 NA NA 0.07884251 0.02359629 0.9841784 0.9487806 NA 0.0512194 NA FALSE NA 0 -1.841 rs137919698 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 5/6 rs137919698&COSM1415997 1 NA T:0.0002 T:0 TCG C,T 2.471e-05 22:35416398 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 synonymous_variant 2.592255 0.36841 0.09196 0.706548 0.7855103 0 0.5636925 FALSE 1.22072e-05 ENSE00001727123_020 ENSE00001727123 020 22 35812275 35812444 + 57 66 47 G A 35812402 743 128 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAATGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG 35416281 35416451 35416408 35416409 35416409 downstr_intron 5 1.108696 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAATGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 24 441 0.9688955 0.9774721 0.9731838 0.9808295 0.9875274 0.9211575 0.9764037 NA NA 0.04773803 0.001068434 0.9841784 0.9487806 NA 0.02440323 NA FALSE NA 0.983 4.129 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:35416409 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 splice_region_variant 1.243445 0.93857 0.78514 0.069865 0.9252417 0.974416 0.5636925 FALSE 2.44383e-05 ENSE00001727123_024 ENSE00001727123 024 22 35812275 35812444 + 57 66 47 G A 35812428 747 154 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTACAGCAGCCCAGCGTGG 35416281 35416451 35416434 35416435 35416435 downstr_intron 31 1.673913 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTACAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 62 662 1 0.9886024 0.9943012 0.9808295 0.9875274 0.9211575 0.9764037 NA NA 0.07884251 0.01219869 0.9841784 0.9487806 NA 0.0455206 NA FALSE NA 0 0.109 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:35416435 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 intron_variant 0.18911 0.21004 0.04493 0.069865 0.6033837 0.0882499 0.5636925 FALSE 0.000163891 ENSE00001727123_025 ENSE00001727123 025 22 35812275 35812444 + 57 66 47 G C 35812428 748 154 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTCCAGCAGCCCAGCGTGG 35416281 35416451 35416434 35416435 35416435 downstr_intron 31 1.673913 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTCCAGCAGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 29 168 0.8176312 1 0.9088156 0.9808295 0.9875274 0.9211575 0.9764037 NA NA -0.1035263 0.02359629 0.9841784 0.9487806 NA -0.039965 NA FALSE NA 0 0.109 NA NA NA MCM5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MCM5 NA NA NA ENSG00000100297 ENSE00003550023 intron_variant -0.105378 0.23465 0.05366 0.069865 0.5590244 0.0882499 0.5636925 FALSE 4.09729e-06 ENSE00001727123_026 ENSE00001727123 026 22 35812275 35812444 + 57 66 47 A G 35812433 749 159 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCGGCCCAGCGTGG 35416281 35416451 35416439 35416440 35416440 downstr_intron 36 1.782609 TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCGGCCCAGCGTGG TGCTCCCTGCTCCCTCACTTCAGTAGGTCTGATGATATTTCTCTCTTCCCCACTTAGATGCGAGAAGATGACCGTGTGGCAATCCACGAAGCCATGGAGCAGCAGACCATCTCTATCGCCAAGGTGAGTGGCCCTCCATGGAGAGCCCAGCCTGCAGCAGCCCAGCGTGG mutant NA NA NA NA NA 369 47 0.8126539 1 0.9063269 0.9808295 0.9875274 0.9211575 0.9764037 NA NA -0.1085036 0.02359629 0.9841784 0.9487806 NA -0.04245367 NA FALSE NA 0 -0.106 . intron_variant&non_coding_transcript_variant MODIFIER MCM5 HGNC 6948 ENST00000465557 5/5 1 NA CAG A,G 8.236e-06 22:35416440 MCM5 HGNC Symbol protein_coding 25367 ENSG00000100297 ENSE00003550023 intron_variant 0.243371 0.17525 0.01417 0.069865 0.7382429 0.0882499 0.5636925 FALSE 4.10502e-06 ENSE00001727129_000 ENSE00001727129 000 9 131023912 131024081 - 35 90 45 NA NA NA NA NA TCTTCCTTCTACATCCCTCCCCTGCAAAGCCTCACCTGCCCCAGGTGTGCTTCCAGCTGTGCCCGCTCCTCCATGGCCTGCTGTAACTGCTGGTTAGCATCAGGGGCTTCACACCGGCTTGAAAACTGGATGGTGAAGAGCGAGAAGTTTAGATCTGGGGAGCCCAGGCC 128261632 128261802 NA NA NA NA NA NA GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA natural 199 272 0.8416923 0.8960386 0.8688654 309 383 0.9743851 0.9187002 0.9465427 0.8416923 0.8960386 0.9743851 0.9187002 0 0 0 0 0.8688654 0.9465427 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GOLGA2 NA NA NA ENSG00000167110 ENSE00003581109 NA NA NA NA NA NA NA 0.9949256 TRUE NA ENSE00001727129_007 ENSE00001727129 007 9 131023912 131024081 - 35 90 45 G C 131024017 2733 65 TCTTCCTTCTACATCCCTCCCCTGCAAAGCCTCACCTGCCCCAGGTGTGCTTCCAGCTGTGCCCGCTCCTCCATGGCCTGCTGTAACTGCTGGTTAGCATCAGGGCCTTCACACCGGCTTGAAAACTGGATGGTGAAGAGCGAGAAGTTTAGATCTGGGGAGCCCAGGCC 128261632 128261802 128261737 128261738 128261738 exon 20 0.2222222 GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGGCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA mutant NA NA NA NA NA 485 548 0.9594434 0.9710612 0.9652523 0.8416923 0.8960386 0.9743851 0.9187002 NA NA -0.01494176 0.05236103 0.8688654 0.9465427 NA 0.01870963 NA FALSE NA 0.001 0.574 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:128261738 GOLGA2 HGNC Symbol protein_coding 20166 ENSG00000167110 ENSE00003581109 missense_variant 0.824431 0.22799 0.20678 0.732398 0.9714823 0 0.9949256 TRUE 4.06114e-06 ENSE00001727129_008 ENSE00001727129 008 9 131023912 131024081 - 35 90 45 G A 131024017 2734 65 TCTTCCTTCTACATCCCTCCCCTGCAAAGCCTCACCTGCCCCAGGTGTGCTTCCAGCTGTGCCCGCTCCTCCATGGCCTGCTGTAACTGCTGGTTAGCATCAGGGACTTCACACCGGCTTGAAAACTGGATGGTGAAGAGCGAGAAGTTTAGATCTGGGGAGCCCAGGCC 128261632 128261802 128261737 128261738 128261738 exon 20 0.2222222 GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGTCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA mutant NA NA NA NA NA 260 111 0.9911267 1 0.9955634 0.8416923 0.8960386 0.9743851 0.9187002 NA NA 0.01674156 0.0812998 0.8688654 0.9465427 NA 0.04902068 NA FALSE NA 0.001 0.574 NA NA NA GOLGA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GOLGA2 NA NA NA ENSG00000167110 ENSE00003581109 missense_variant 1.284159 0.21424 0.17382 0.732398 0.9765619 0 0.9949256 TRUE 8.12229e-06 ENSE00001727129_009 ENSE00001727129 009 9 131023912 131024081 - 35 90 45 T G 131024020 2735 62 TCTTCCTTCTACATCCCTCCCCTGCAAAGCCTCACCTGCCCCAGGTGTGCTTCCAGCTGTGCCCGCTCCTCCATGGCCTGCTGTAACTGCTGGTTAGCATCAGGGGCTGCACACCGGCTTGAAAACTGGATGGTGAAGAGCGAGAAGTTTAGATCTGGGGAGCCCAGGCC 128261632 128261802 128261740 128261741 128261741 exon 17 0.1888889 GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGCAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA mutant NA NA NA NA NA 351 112 0.8 0.8129344 0.8064672 0.8416923 0.8960386 0.9743851 0.9187002 NA NA -0.1743851 -0.1057658 0.8688654 0.9465427 NA -0.1400755 NA FALSE NA 0.409 0.871 . missense_variant MODERATE GOLGA2 HGNC 4425 ENST00000609374 14/26 1 tolerated(0.6) benign(0.011) NA TTC T,G 8.236e-06 9:128261741 GOLGA2 HGNC Symbol protein_coding 20166 ENSG00000167110 ENSE00003581109 missense_variant 0.110839 0.2572 0.23605 0.732398 0.7889611 0 0.9949256 TRUE 4.06108e-06 ENSE00001727129_011 ENSE00001727129 011 9 131023912 131024081 - 35 90 45 C A 131024025 2737 57 TCTTCCTTCTACATCCCTCCCCTGCAAAGCCTCACCTGCCCCAGGTGTGCTTCCAGCTGTGCCCGCTCCTCCATGGCCTGCTGTAACTGCTGGTTAGCATCAGGGGCTTCACAACGGCTTGAAAACTGGATGGTGAAGAGCGAGAAGTTTAGATCTGGGGAGCCCAGGCC 128261632 128261802 128261745 128261746 128261746 exon 12 0.1333333 GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGTTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA mutant NA NA NA NA NA 256 395 0.9439674 0.9454482 0.9447078 0.8416923 0.8960386 0.9743851 0.9187002 NA NA -0.0304178 0.02674801 0.8688654 0.9465427 NA -0.001834892 NA FALSE NA 0.002 -0.049 rs146139895 synonymous_variant LOW GOLGA2 HGNC 4425 ENST00000609374 14/26 rs146139895 1 NA ACC C,A 8.236e-06 9:128261746 GOLGA2 HGNC Symbol protein_coding 20166 ENSG00000167110 ENSE00003581109 synonymous_variant 1.883862 0.22918 0.29872 0.732398 0.7928444 0 0.9949256 TRUE 4.06144e-06 ENSE00001727129_017 ENSE00001727129 017 9 131023912 131024081 - 35 90 45 G A 131024070 2743 12 TCTTCCTTCTACATCCCTCCCCTGCAAAGCCTCACCTGCCCCAGGTGTGCTTCCAGCTGTGCCCGCTCCTCCATGGCCTGCTGTAACTGCTGGTTAGCATCAGGGGCTTCACACCGGCTTGAAAACTGGATGGTGAAGAGCGAGAAGTTTAGATCTGGAGAGCCCAGGCC 128261632 128261802 128261790 128261791 128261791 upstr_intron -34 -0.7333333 GGCCTGGGCTCTCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA GGCCTGGGCTCCCCAGATCTAAACTTCTCGCTCTTCACCATCCAGTTTTCAAGCCGGTGTGAAGCCCCTGATGCTAACCAGCAGTTACAGCAGGCCATGGAGGAGCGGGCACAGCTGGAAGCACACCTGGGGCAGGTGAGGCTTTGCAGGGGAGGGATGTAGAAGGAAGA mutant NA NA NA NA NA 79 12 0.95 1 0.975 0.8416923 0.8960386 0.9743851 0.9187002 NA NA -0.02438515 0.0812998 0.8688654 0.9465427 NA 0.02845733 NA FALSE NA 0.013 1.398 . intron_variant MODIFIER GOLGA2 HGNC 4425 ENST00000609374 13/25 rs541936447 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGG G,A 8.237e-06 9:128261791 GOLGA2 HGNC Symbol protein_coding 20166 ENSG00000167110 ENSE00003581109 non_coding_transcript_exon_variant 1.068636 0.29609 0.12071 0.099367 0.8016168 0.0861861 0.9949256 TRUE 4.07711e-06 ENSE00001727729_000 ENSE00001727729 000 1 15390003 15390172 + 65 51 54 NA NA NA NA NA CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC 15063506 15063676 NA NA NA NA NA NA CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC natural NA NA NA NA NA 1808 934 0.9593787 0.9916895 0.9755341 NA NA 0.9593787 0.9916895 NA NA 0 0 NA 0.9755341 NA 0 NA FALSE NA NA NA NA NA NA KAZN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KAZN NA NA NA ENSG00000189337 ENSE00001727729 NA NA NA NA NA NA NA 0.1445898 FALSE NA ENSE00001727729_001 ENSE00001727729 001 1 15390003 15390172 + 65 51 54 G T 15390019 371 17 CCGCCTCTGCTCTCCTTTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC 15063506 15063676 15063522 15063523 15063523 upstr_intron -49 -0.7384615 CCGCCTCTGCTCTCCTTTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC mutant NA NA NA NA NA 47 84 1 1 1 NA NA 0.9593787 0.9916895 NA NA 0.0406213 0.008310511 NA 0.9755341 NA 0.02446591 NA FALSE NA 0 0.689 . intron_variant MODIFIER KAZN HGNC 29173 ENST00000400797 6/7 1 NA TGT G,T 8.237e-06 1:15063523 KAZN HGNC Symbol protein_coding 1225251 ENSG00000189337 ENSE00001727729 non_coding_transcript_exon_variant 0.96683 0.15905 0.13739 0.078448 0.8923307 0.160786 0.1445898 FALSE NA ENSE00001727729_002 ENSE00001727729 002 1 15390003 15390172 + 65 51 54 C G 15390023 372 21 CCGCCTCTGCTCTCCTGTGTGACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC 15063506 15063676 15063526 15063527 15063527 upstr_intron -45 -0.6769231 CCGCCTCTGCTCTCCTGTGTGACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC mutant NA NA NA NA NA 288 101 0.9859038 0.9945442 0.990224 NA NA 0.9593787 0.9916895 NA NA 0.02652508 0.002854688 NA 0.9755341 NA 0.01468988 NA FALSE NA 0 -0.858 . intron_variant MODIFIER KAZN HGNC 29173 ENST00000400797 6/7 1 NA TCA C,G 8.237e-06 1:15063527 KAZN HGNC Symbol protein_coding 1225251 ENSG00000189337 ENSE00001727729 non_coding_transcript_exon_variant 1.140384 0.13489 0.01402 0.078448 0.7866368 0.224858 0.1445898 FALSE 4.06884e-06 ENSE00001727729_003 ENSE00001727729 003 1 15390003 15390172 + 65 51 54 T C 15390031 373 29 CCGCCTCTGCTCTCCTGTGTCACCTGTCCCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC 15063506 15063676 15063534 15063535 15063535 upstr_intron -37 -0.5538462 CCGCCTCTGCTCTCCTGTGTCACCTGTCCCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC mutant NA NA NA NA NA 51 39 1 1 1 NA NA 0.9593787 0.9916895 NA NA 0.0406213 0.008310511 NA 0.9755341 NA 0.02446591 NA FALSE NA 0.004 0.494 . intron_variant MODIFIER KAZN HGNC 29173 ENST00000400797 6/7 1 NA CTC T,C 8.237e-06 1:15063535 KAZN HGNC Symbol protein_coding 1225251 ENSG00000189337 ENSE00001727729 non_coding_transcript_exon_variant 1.556591 0.15027 0.06098 0.078448 0.8456084 0.30035 0.1445898 FALSE 4.06501e-06 ENSE00001727729_005 ENSE00001727729 005 1 15390003 15390172 + 65 51 54 T C 15390045 375 43 CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCCTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC 15063506 15063676 15063548 15063549 15063549 upstr_intron -23 -0.3384615 CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCCTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC mutant NA NA NA NA NA 52 30 1 1 1 NA NA 0.9593787 0.9916895 NA NA 0.0406213 0.008310511 NA 0.9755341 NA 0.02446591 NA FALSE NA 0.052 0.181 . intron_variant MODIFIER KAZN HGNC 29173 ENST00000400797 6/7 1 NA CTT T,C 8.236e-06 1:15063549 KAZN HGNC Symbol protein_coding 1225251 ENSG00000189337 ENSE00001727729 non_coding_transcript_exon_variant 2.313172 0.15846 0.09621 0.078448 0.7725956 0.440482 0.1445898 FALSE 4.06283e-06 ENSE00001727729_006 ENSE00001727729 006 1 15390003 15390172 + 65 51 54 C T 15390055 376 53 CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTTCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC 15063506 15063676 15063558 15063559 15063559 upstr_intron -13 -0.1846154 CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTTCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC mutant NA NA NA NA NA 23 11 1 1 1 NA NA 0.9593787 0.9916895 NA NA 0.0406213 0.008310511 NA 0.9755341 NA 0.02446591 NA FALSE NA 0.67 0.543 . intron_variant MODIFIER KAZN HGNC 29173 ENST00000400797 6/7 rs529393579 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCC C,T 0.0001235 1:15063559 KAZN HGNC Symbol protein_coding 1225251 ENSG00000189337 ENSE00001727729 non_coding_transcript_exon_variant 2.269872 0.14138 0.3563 0.078448 0.9187144 0.439657 0.1445898 FALSE 0.000105619 ENSE00001727729_008 ENSE00001727729 008 1 15390003 15390172 + 65 51 54 G A 15390080 378 78 CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCAGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC 15063506 15063676 15063583 15063584 15063584 exon 13 0.254902 CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCAGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC mutant NA NA NA NA NA 159 380 0.9226778 1 0.9613389 NA NA 0.9593787 0.9916895 NA NA -0.03670085 0.008310511 NA 0.9755341 NA -0.01419517 NA FALSE NA 1 5.826 . missense_variant MODERATE KAZN HGNC 29173 ENST00000400797 7/8 rs538840624 1 tolerated(0.38) benign(0.042) NA CGG G,A 9.884e-05 1:15063584 KAZN HGNC Symbol protein_coding 1225251 ENSG00000189337 ENSE00001727729 missense_variant 4.860064 0.98167 0.96826 0.695654 0.8806666 0 0.1445898 FALSE 0.000121868 ENSE00001727729_014 ENSE00001727729 014 1 15390003 15390172 + 65 51 54 C T 15390160 384 158 CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCTCACCTTGACTAC 15063506 15063676 15063663 15063664 15063664 downstr_intron 42 1.792453 CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCTCACCTTGACTAC CCGCCTCTGCTCTCCTGTGTCACCTGTCTCTGCTGTTTCATCTTCCTCTTCTCCTCTGGCTACAGGGCGACAGTCCCGGCCCAGTTCAGAAGAACCTGCACAACCCTATTGTACAGGTAGGTGTGCCCTCCCTGGCCACTTGAACCCTCCCTCCACCCCACCTTGACTAC mutant NA NA NA NA NA 304 682 1 0.999768 0.999884 NA NA 0.9593787 0.9916895 NA NA 0.0406213 0.008078546 NA 0.9755341 NA 0.02434992 NA FALSE NA 0.002 1.256 . intron_variant MODIFIER KAZN HGNC 29173 ENST00000400797 7/7 1 NA CCC C,T 8.237e-06 1:15063664 KAZN HGNC Symbol protein_coding 1225251 ENSG00000189337 ENSE00001727729 intron_variant 0.365766 0.29098 0.21533 0.078448 0.565875 0.572821 0.1445898 FALSE 1.22945e-05 ENSE00001728426_000 ENSE00001728426 000 7 87774686 87774855 + 44 93 33 NA NA NA NA NA TTTTCTGTCAAATGGTCATTAATGTTTATTTACCTTGCACTTTTTACAGCAAAGACCGTCACTGCATTGAGAGTCTTGAGTCAAGGTGCATTTCTTACAACACTCTGCTCCTTCAAGGACACATTCCTAAGGAATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 NA NA NA NA NA NA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA natural NA NA NA NA NA 4762 4229 0.9345997 0.9164775 0.9255386 NA NA 0.9345997 0.9164775 NA NA 0 0 NA 0.9255386 NA 0 NA FALSE NA NA NA NA NA NA ADAM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM22 NA NA NA ENSG00000008277 ENSE00001728426 NA NA NA NA NA NA NA 0.9993889 TRUE NA ENSE00001728426_001 ENSE00001728426 001 7 87774686 87774855 + 44 93 33 T G 87774723 1417 38 TTTTCTGTCAAATGGTCATTAATGTTTATTTACCTTGCACTTTTTACAGCAAAGACCGTCACTGCATTGAGAGTCTTGAGTCAAGGTGCATTTCTTACAACACTCTGCTCCTTCAAGGACACATTCCTAAGGCATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 88145407 88145408 88145408 upstr_intron -7 -0.1363636 GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATGCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA mutant NA NA NA NA NA 40 55 0.9515106 1 0.9757553 NA NA 0.9345997 0.9164775 NA NA 0.01691094 0.08352251 NA 0.9255386 NA 0.05021673 NA FALSE NA 0.078 2.185 rs75477749 splice_region_variant&intron_variant LOW ADAM22 HGNC 201 ENST00000398209 16/30 rs75477749 1 G:0.0032 G:0.0121 G:0 NA G:0 G:0 G:0 G:0.015 G:0.0002 TTC T,G 0.001415 7:88145408 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001728426 splice_region_variant 0.798745 0.97057 0.86692 0.078448 0.7830017 0.857743 0.9993889 TRUE 0.00127218 ENSE00001728426_003 ENSE00001728426 003 7 87774686 87774855 + 44 93 33 T C 87774727 1419 42 TTTTCTGTCAAATGGTCATTAATGTTTATTTACCTTGCACTTTTTACAGCAAAGACCGTCACTGCATTGAGAGTCTTGAGTCAAGGTGCATTTCTTACAACACTCTGCTCCTTCAAGGACACATTCCTGAGGAATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 88145411 88145412 88145412 upstr_intron -3 -0.04545455 GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTCAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA mutant NA NA NA NA NA 174 387 0.9853204 0.9979078 0.9916141 NA NA 0.9345997 0.9164775 NA NA 0.05072073 0.0814303 NA 0.9255386 NA 0.06607552 NA FALSE NA 0.057 -0.009 rs3761806 splice_region_variant&intron_variant LOW ADAM22 HGNC 201 ENST00000398209 16/30 rs3761806 1 C:0.1232 C:0.0265 C:0.1095 NA C:0.2371 C:0.0934 C:0.1769 C:0.0315 C:0.0806 TTA T,C 0.098 7:88145412 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001728426 splice_region_variant 1.509685 0.97078 0.13531 0.078448 0.8375854 0.495184 0.9993889 TRUE 0.098134 ENSE00001728426_006 ENSE00001728426 006 7 87774686 87774855 + 44 93 33 A G 87774765 1422 80 TTTTCTGTCAAATGGTCATTAATGTTTATTTACCTTGCACTTTTTACAGCAAAGACCGTCACTGCATTGAGAGTCTTGAGTCAAGGTGCACTTCTTACAACACTCTGCTCCTTCAAGGACACATTCCTAAGGAATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 88145449 88145450 88145450 exon 36 0.3870968 GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAGTGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA mutant NA NA NA NA NA 546 202 1 1 1 NA NA 0.9345997 0.9164775 NA NA 0.06540035 0.08352251 NA 0.9255386 NA 0.07446143 NA FALSE NA 0.991 0.913 . synonymous_variant LOW ADAM22 HGNC 201 ENST00000398209 17/31 1 NA AAT A,G 8.276e-06 7:88145450 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001728426 synonymous_variant 0.788402 0.9719 0.66764 0.638212 0.682955 0 0.9993889 TRUE 4.06894e-06 ENSE00001728426_007 ENSE00001728426 007 7 87774686 87774855 + 44 93 33 C T 87774770 1423 85 TTTTCTGTCAAATGGTCATTAATGTTTATTTACCTTGCACTTTTTACAGCAAAGACCGTCACTGCATTGAGAGTCTTGAGTCAAGATGCATTTCTTACAACACTCTGCTCCTTCAAGGACACATTCCTAAGGAATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 88145454 88145455 88145455 exon 41 0.4408602 GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCATCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA mutant NA NA NA NA NA 76 34 0.9856262 1 0.9928131 NA NA 0.9345997 0.9164775 NA NA 0.0510265 0.08352251 NA 0.9255386 NA 0.06727451 NA FALSE NA 1 4.334 . missense_variant MODERATE ADAM22 HGNC 201 ENST00000398209 17/31 COSM354611&COSM354610 1 deleterious(0) possibly_damaging(0.469) NA ACC C,T 8.276e-06 7:88145455 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001728426 missense_variant 6.35831 0.98669 0.93097 0.693126 0.9987673 0 0.9993889 TRUE 4.06931e-06 ENSE00001728426_009 ENSE00001728426 009 7 87774686 87774855 + 44 93 33 A G 87774782 1425 97 TTTTCTGTCAAATGGTCATTAATGTTTATTTACCTTGCACTTTTTACAGCAAAGACCGTCACTGCATTGAGAGCCTTGAGTCAAGGTGCATTTCTTACAACACTCTGCTCCTTCAAGGACACATTCCTAAGGAATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 88145466 88145467 88145467 exon -41 0.5698925 GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGGCTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA mutant NA NA NA NA NA 25 500 0.9983421 1 0.9991711 NA NA 0.9345997 0.9164775 NA NA 0.06374249 0.08352251 NA 0.9255386 NA 0.0736325 NA FALSE NA 1 3.379 . missense_variant MODERATE ADAM22 HGNC 201 ENST00000398209 17/31 1 tolerated(1) benign(0.001) NA GAC A,G 8.276e-06 7:88145467 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001728426 missense_variant 2.017617 0.9831 0.7658 0.693126 0.7843662 0 0.9993889 TRUE 4.06901e-06 ENSE00001728426_012 ENSE00001728426 012 7 87774686 87774855 + 44 93 33 G C 87774794 1428 109 TTTTCTGTCAAATGGTCATTAATGTTTATTTACCTTGCACTTTTTACAGCAAAGACCGTCAGTGCATTGAGAGTCTTGAGTCAAGGTGCATTTCTTACAACACTCTGCTCCTTCAAGGACACATTCCTAAGGAATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 88145478 88145479 88145479 exon -29 0.6989247 GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCACTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA mutant NA NA NA NA NA 220 51 0.9998128 1 0.9999064 NA NA 0.9345997 0.9164775 NA NA 0.06521314 0.08352251 NA 0.9255386 NA 0.07436783 NA FALSE NA 1 9.013 . missense_variant MODERATE ADAM22 HGNC 201 ENST00000398209 17/31 1 deleterious(0) probably_damaging(0.993) NA AGT G,C 8.277e-06 7:88145479 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001728426 missense_variant 6.56207 0.99458 0.98774 0.638212 0.9963583 0 0.9993889 TRUE 4.07186e-06 ENSE00001728426_014 ENSE00001728426 014 7 87774686 87774855 + 44 93 33 T C 87774801 1430 116 TTTTCTGTCAAATGGTCATTAATGTTTATTTACCTTGCACTTTTTACAGCAAAGGCCGTCACTGCATTGAGAGTCTTGAGTCAAGGTGCATTTCTTACAACACTCTGCTCCTTCAAGGACACATTCCTAAGGAATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 88145485 88145486 88145486 exon -22 0.7741935 GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGCCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA mutant NA NA NA NA NA 102 295 1 0.9869106 0.9934553 NA NA 0.9345997 0.9164775 NA NA 0.06540035 0.07043312 NA 0.9255386 NA 0.06791674 NA FALSE NA 0.414 -0.326 . synonymous_variant LOW ADAM22 HGNC 201 ENST00000398209 17/31 1 NA GTC T,C 1.655e-05 7:88145486 ADAM22 HGNC Symbol protein_coding 268746 ENSG00000008277 ENSE00001728426 synonymous_variant 0.481787 0.89546 0.20648 0.638212 0.6804249 0 0.9993889 TRUE 1.6299e-05 ENSE00001728426_BRK ENSE00001728426 BRK 7 87774686 87774855 + 44 93 33 A,G; T,T NA NA NA TTTTCTGTCAAATGGTCATTAATGTTTATTTGGCTTGCACTTTTTACAGCAAAGACCGTCACTGCATTGAGAGTCTTGAGTCAAGGTGCATTTCTTACAACACTCTGCTCCTTCAAGGACACATTCAAAAGGAATATAAACATTTTCAAAACATCAGAAAACGGTGTCAC 88145370 88145540 NA NA NA NA NA NA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTTTGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGCCAAATAAACATTAATGACCATTTGACAGAAAA GTGACACCGTTTTCTGATGTTTTGAAAATGTTTATATTCCTTAGGAATGTGTCCTTGAAGGAGCAGAGTGTTGTAAGAAATGCACCTTGACTCAAGACTCTCAATGCAGTGACGGTCTTTGCTGTAAAAAGTGCAAGGTAAATAAACATTAATGACCATTTGACAGAAAA control 96 175 0 0 0 48 82 0 0 0 NA NA 0.9345997 0.9164775 NA NA -0.9345997 -0.9164775 NA 0.9255386 NA -0.9255386 NA TRUE NA NA NA NA NA NA ADAM22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAM22 NA NA NA ENSG00000008277 ENSE00001728426 NA NA NA NA NA NA NA 0.9993889 TRUE NA ENSE00001728827_000 ENSE00001728827 000 X 1477677 1477846 + 77 27 66 NA NA NA NA NA AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 NA NA NA NA NA NA AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG natural 953 1500 0.8482726 0.8568883 0.8525804 9944 9206 0.9427521 0.9245097 0.9336309 0.8482726 0.8568883 0.9427521 0.9245097 0 0 0 0 0.8525804 0.9336309 0 0 0 FALSE FALSE NA NA NA NA NA IL3RA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL3RA NA NA NA ENSG00000185291 ENSE00001728827 NA NA NA NA NA NA NA 1.103728e-12 FALSE NA ENSE00001728827_001 ENSE00001728827 001 X 1477677 1477846 + 77 27 66 T C 1477704 1 28 AGAAATTTGAGTTTGGGAGGAGGAGGCCTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358810 1358811 1358811 upstr_intron -50 -0.6363636 AGAAATTTGAGTTTGGGAGGAGGAGGCCTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 996 538 0.967446 0.9685811 0.9680136 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.02469393 0.04407142 0.8525804 0.9336309 NA 0.03438267 NA FALSE NA 0.006 0.756 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA CTT .,C 8.236e-06 X:1358811 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.562717 0.10084 0.02755 0 0.3085434 0.0836769 1.103728e-12 FALSE 4.10307e-06 ENSE00001728827_002 ENSE00001728827 002 X 1477677 1477846 + 77 27 66 G A 1477710 2 34 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGAGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358816 1358817 1358817 upstr_intron -44 -0.5584416 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGAGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 580 270 0.9791229 0.9674 0.9732615 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.03637079 0.04289031 0.8525804 0.9336309 NA 0.03963055 NA FALSE NA 0.003 0.996 rs144708942 intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA GGG .,A 0.014 X:1358817 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.624257 0.09933 0.03307 0 0.2823746 0.0481801 1.103728e-12 FALSE 0.0140381 ENSE00001728827_004 ENSE00001728827 004 X 1477677 1477846 + 77 27 66 G A 1477714 4 38 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACAGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358820 1358821 1358821 upstr_intron -40 -0.5064935 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACAGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 712 1148 0.8072179 0.8783353 0.8427766 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.1355341 -0.04617443 0.8525804 0.9336309 NA -0.09085429 NA FALSE NA 0 -0.286 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA CGG .,A 2.471e-05 X:1358821 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.526129 0.09696 0.01804 0 0.2541752 0.0841039 1.103728e-12 FALSE 4.08077e-05 ENSE00001728827_005 ENSE00001728827 005 X 1477677 1477846 + 77 27 66 A C 1477719 5 43 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCCGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358825 1358826 1358826 upstr_intron -35 -0.4415584 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCCGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1020 1176 0.8958833 0.8419292 0.8689063 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.04686876 -0.08258053 0.8525804 0.9336309 NA -0.06472465 NA FALSE NA 0.021 0.081 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA CAG .,C 8.236e-06 X:1358826 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.468303 0.10381 0.027 0 0.2982569 0.0481801 1.103728e-12 FALSE 1.22226e-05 ENSE00001728827_006 ENSE00001728827 006 X 1477677 1477846 + 77 27 66 C T 1477724 6 48 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACATTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358830 1358831 1358831 upstr_intron -30 -0.3766234 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACATTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1817 1069 0.814932 0.8129341 0.8139331 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.1278201 -0.1115756 0.8525804 0.9336309 NA -0.1196978 NA FALSE NA 0.001 0.815 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA ACT .,T 5.765e-05 X:1358831 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.618565 0.10315 0.0283 0 0.4047589 0.0481801 1.103728e-12 FALSE 2.84963e-05 ENSE00001728827_007 ENSE00001728827 007 X 1477677 1477846 + 77 27 66 C G 1477726 7 50 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTGAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358832 1358833 1358833 upstr_intron -28 -0.3506494 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTGAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1146 1371 0.974875 0.9622265 0.9685508 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.03212289 0.0377168 0.8525804 0.9336309 NA 0.03491985 NA FALSE NA 0.001 -0.009 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA TCA .,G 8.236e-06 X:1358833 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.520274 0.10614 0.01806 0 0.3356927 0.0481801 1.103728e-12 FALSE 4.0707e-06 ENSE00001728827_008 ENSE00001728827 008 X 1477677 1477846 + 77 27 66 T A 1477733 8 57 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTATGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358839 1358840 1358840 upstr_intron -21 -0.2597403 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTATGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1761 1039 0.8261158 0.8855106 0.8558132 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.1166363 -0.03899908 0.8525804 0.9336309 NA -0.07781769 NA FALSE NA 0 0.798 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA TTT .,A 8.236e-06 X:1358840 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.826257 0.09787 0.03018 0 0.2358788 0.0481801 1.103728e-12 FALSE 4.06974e-06 ENSE00001728827_009 ENSE00001728827 009 X 1477677 1477846 + 77 27 66 T C 1477737 9 61 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCCTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358843 1358844 1358844 upstr_intron -17 -0.2077922 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCCTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 594 2082 0.8186446 0.7973124 0.8079785 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.1241075 -0.1271973 0.8525804 0.9336309 NA -0.1256524 NA FALSE NA 0 0.546 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA CTT .,C 8.236e-06 X:1358844 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.282966 0.09549 0.02485 0 0.3748173 0.0834403 1.103728e-12 FALSE NA ENSE00001728827_010 ENSE00001728827 010 X 1477677 1477846 + 77 27 66 T C 1477741 10 65 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCCTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358847 1358848 1358848 upstr_intron -13 -0.1558442 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCCTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 752 1760 0.004536478 0.011186 0.007861238 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.9382156 -0.9133237 0.8525804 0.9336309 NA -0.9257697 NA TRUE NA 0.001 0.878 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA CTT .,C 8.236e-06 X:1358848 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.400217 0.10408 0.03099 0 0.3620926 0.0920613 1.103728e-12 FALSE 8.13782e-06 ENSE00001728827_011 ENSE00001728827 011 X 1477677 1477846 + 77 27 66 G A 1477745 11 69 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTATGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358851 1358852 1358852 upstr_intron -9 -0.1038961 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTATGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 2407 1122 0.7351437 0.8169246 0.7760342 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.2076084 -0.1075851 0.8525804 0.9336309 NA -0.1575967 NA FALSE NA 0 -0.872 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 4/8 1 NA TGT .,A 8.236e-06 X:1358852 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.428508 0.10716 0.01234 0 0.4756555 0.0925633 1.103728e-12 FALSE 4.06832e-06 ENSE00001728827_012 ENSE00001728827 012 X 1477677 1477846 + 77 27 66 C A 1477751 12 75 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGAAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358857 1358858 1358858 upstr_intron -3 -0.02597403 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGAAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1270 794 0.0009235612 0.01187326 0.00639841 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.9418285 -0.9126365 0.8525804 0.9336309 NA -0.9272325 NA TRUE NA 0.012 0.011 . splice_region_variant&intron_variant LOW IL3RA HGNC 6012 ENST00000381469 4/8 1 NA GCA .,A 8.236e-06 X:1358858 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 splice_region_variant 0.540446 0.08945 0.01955 0 0.4006083 0.0971518 1.103728e-12 FALSE 4.06838e-06 ENSE00001728827_013 ENSE00001728827 013 X 1477677 1477846 + 77 27 66 A G 1477769 13 93 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAGTCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358875 1358876 1358876 exon -12 0.5925926 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAGTCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 2165 1591 0.6770999 0.8085771 0.7428385 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.2656522 -0.1159327 0.8525804 0.9336309 NA -0.1907924 NA FALSE NA 0 -1.753 rs141808856 missense_variant MODERATE IL3RA HGNC 6012 ENST00000381469 5/9 1 tolerated(0.49) benign(0.005) NA AAT .,G 1.647e-05 X:1358876 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 missense_variant -2.291128 0.06665 0.00706 0 0.1016661 0 1.103728e-12 FALSE 1.22061e-05 ENSE00001728827_015 ENSE00001728827 015 X 1477677 1477846 + 77 27 66 G A 1477780 15 104 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAAGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358886 1358887 1358887 exon -1 1 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAAGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 796 556 0.9221664 0.9938676 0.958017 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.02058567 0.06935784 0.8525804 0.9336309 NA 0.02438608 NA FALSE NA 0.021 0.141 . splice_region_variant&synonymous_variant LOW IL3RA HGNC 6012 ENST00000381469 5/9 COSM3558910 1 NA AGG .,A 8.236e-06 X:1358887 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 splice_region_variant -0.214633 0.11891 0.02271 0 0.5777317 0 1.103728e-12 FALSE NA ENSE00001728827_016 ENSE00001728827 016 X 1477677 1477846 + 77 27 66 T C 1477782 16 106 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGCGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358888 1358889 1358889 downstr_intron 2 1.030769 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGCGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 3560 673 0.9974894 0.9968813 0.9971853 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.05473728 0.07237158 0.8525804 0.9336309 NA 0.06355443 NA FALSE NA 0.045 0.878 rs138167766 splice_donor_variant HIGH IL3RA HGNC 6012 ENST00000381469 5/8 1 NA HC GTG .,C 1.647e-05 X:1358889 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 splice_donor_variant 0.466919 0.12186 0.04571 0 0.6278638 0.0987096 1.103728e-12 FALSE 3.25911e-05 ENSE00001728827_017 ENSE00001728827 017 X 1477677 1477846 + 77 27 66 G C 1477783 17 107 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTCAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358889 1358890 1358890 downstr_intron 3 1.046154 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTCAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1374 1885 0.949949 0.9227252 0.9363371 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.007196932 -0.001784549 0.8525804 0.9336309 NA 0.002706191 NA FALSE NA 0.045 1.052 . splice_region_variant&intron_variant LOW IL3RA HGNC 6012 ENST00000381469 5/8 1 NA TGA .,C 8.236e-06 X:1358890 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 splice_region_variant 0.256141 0.1296 0.06084 0 0.353396 0.0940786 1.103728e-12 FALSE NA ENSE00001728827_018 ENSE00001728827 018 X 1477677 1477846 + 77 27 66 G A 1477785 18 109 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAATGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358891 1358892 1358892 downstr_intron 5 1.076923 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAATGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1038 1954 0.9994834 0.833843 0.9166632 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.05673135 -0.09066669 0.8525804 0.9336309 NA -0.01696767 NA FALSE NA 0.035 1.052 rs182697959 splice_region_variant&intron_variant LOW IL3RA HGNC 6012 ENST00000381469 5/8 1 NA AGT .,A 0.0001647 X:1358892 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 splice_region_variant 0.424688 0.12686 0.05234 0 0.3184889 0.0940786 1.103728e-12 FALSE 0.000146746 ENSE00001728827_019 ENSE00001728827 019 X 1477677 1477846 + 77 27 66 T G 1477786 19 110 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGGGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358892 1358893 1358893 downstr_intron 6 1.092308 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGGGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 2954 2545 0.9364004 0.9151348 0.9257676 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.006351703 -0.009374929 0.8525804 0.9336309 NA -0.007863316 NA FALSE NA 0.023 0.035 . splice_region_variant&intron_variant LOW IL3RA HGNC 6012 ENST00000381469 5/8 1 NA GTG .,G 8.236e-06 X:1358893 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 splice_region_variant 0.441825 0.12535 0.03735 0 0.4138394 0.0900694 1.103728e-12 FALSE NA ENSE00001728827_020 ENSE00001728827 020 X 1477677 1477846 + 77 27 66 C T 1477791 20 115 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCTCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358897 1358898 1358898 downstr_intron 11 1.169231 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCTCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1349 71 0.9671324 0.9180668 0.9425996 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.02438027 -0.006442886 0.8525804 0.9336309 NA 0.008968692 NA FALSE NA 0.003 0.86 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 5/8 1 NA CCC .,T 8.236e-06 X:1358898 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.624167 0.11275 0.03152 0 0.2616296 0.0481801 1.103728e-12 FALSE 4.08543e-06 ENSE00001728827_021 ENSE00001728827 021 X 1477677 1477846 + 77 27 66 C T 1477795 21 119 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTATCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358901 1358902 1358902 downstr_intron 15 1.230769 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTATCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1364 1661 0.9422112 0.9452936 0.9437524 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.000540929 0.02078391 0.8525804 0.9336309 NA 0.01012149 NA FALSE NA 0 -0.516 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 5/8 1 NA ACC .,T 1.647e-05 X:1358902 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.088377 0.06979 0.01003 0 0.1405202 0.0481801 1.103728e-12 FALSE 2.86477e-05 ENSE00001728827_022 ENSE00001728827 022 X 1477677 1477846 + 77 27 66 C G 1477798 22 122 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCGCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358904 1358905 1358905 downstr_intron 18 1.276923 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCGCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1425 2024 0.9938801 0.9972417 0.9955609 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.05112797 0.07273202 0.8525804 0.9336309 NA 0.06193 NA FALSE NA 0 -1.411 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:1358905 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.341626 0.11456 0.01092 0 0.2441106 0.0481801 1.103728e-12 FALSE 8.19269e-06 ENSE00001728827_023 ENSE00001728827 023 X 1477677 1477846 + 77 27 66 C T 1477798 23 122 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCTCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358904 1358905 1358905 downstr_intron 18 1.276923 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCTCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 605 2801 0.9681356 0.9774574 0.9727965 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.0253835 0.05294764 0.8525804 0.9336309 NA 0.03916557 NA FALSE NA 0 -1.411 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL3RA NA NA NA ENSG00000185291 ENSE00001728827 intron_variant 0.527126 0.11075 0.00881 0 0.2010635 0.0481801 1.103728e-12 FALSE 1.2289e-05 ENSE00001728827_024 ENSE00001728827 024 X 1477677 1477846 + 77 27 66 C T 1477799 24 123 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCTAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358905 1358906 1358906 downstr_intron 19 1.292308 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCTAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1042 835 0.79861 0.8055935 0.8021018 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.1441421 -0.1189163 0.8525804 0.9336309 NA -0.1315292 NA FALSE NA 0.001 0.772 NA NA NA IL3RA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:1358906 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.51339 0.11175 0.03113 0 0.2010845 0.0481801 1.103728e-12 FALSE 4.09544e-06 ENSE00001728827_026 ENSE00001728827 026 X 1477677 1477846 + 77 27 66 C T 1477803 26 127 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCTGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358909 1358910 1358910 downstr_intron 23 1.353846 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCTGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 2234 1579 0.9448126 0.8423031 0.8935579 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.002060486 -0.08220658 0.8525804 0.9336309 NA -0.04007305 NA FALSE NA 0.001 0.263 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 5/8 1 NA CCG .,T 6.589e-05 X:1358910 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.544886 0.10409 0.02056 0 0.2505432 0.0481801 1.103728e-12 FALSE 6.97682e-05 ENSE00001728827_027 ENSE00001728827 027 X 1477677 1477846 + 77 27 66 G A 1477804 27 128 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCACTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358910 1358911 1358911 downstr_intron 24 1.369231 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCACTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 1110 1731 0.6991644 0.8139229 0.7565437 0.8482726 0.8568883 0.9427521 0.9245097 NA NA -0.2435877 -0.1105868 0.8525804 0.9336309 NA -0.1770873 NA FALSE NA 0.001 -0.736 rs187175618 intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 5/8 1 NA CGC .,A 0.0001894 X:1358911 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.488684 0.10604 0.01407 0 0.3149569 0.0481801 1.103728e-12 FALSE 0.000139903 ENSE00001728827_028 ENSE00001728827 028 X 1477677 1477846 + 77 27 66 T C 1477806 28 130 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCCGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 1358912 1358913 1358913 downstr_intron 26 1.4 AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCCGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG mutant NA NA NA NA NA 3603 1735 0.950125 0.8473477 0.8987363 0.8482726 0.8568883 0.9427521 0.9245097 NA NA 0.007372868 -0.07716204 0.8525804 0.9336309 NA -0.03489458 NA FALSE NA 0.001 -0.614 . intron_variant MODIFIER IL3RA HGNC 6012 ENST00000381469 5/8 1 NA CTG .,C 2.471e-05 X:1358913 IL3RA HGNC Symbol protein_coding 46073 ENSG00000185291 ENSE00001728827 intron_variant 0.538037 0.10486 0.00865 0 0.4133342 0.0831096 1.103728e-12 FALSE 1.67182e-05 ENSE00001728827_BRK ENSE00001728827 BRK X 1477677 1477846 + 77 27 66 A,G; T,T NA NA NA AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCTTAGAATGCAGCCTGTAATCACAGAACAGCCGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG 1358783 1358953 NA NA NA NA NA NA AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCTTAGAATGCAGCCTGTAATCACAGAACAGCCGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG AGAAATTTGAGTTTGGGAGGAGGAGGCTTTCAGGGACGGTCCAGACACTCAAAAGTTTGCTTGCTTTTGTGTTGCAGAGAATGCAGCCTGTAATCACAGAACAGGTGAGTGTTCCCTACCCCCAGCCGCTGTACTTGACATTGCAAAGGGTGAGTTTTATTATTATTAAG control 318 441 0.04074496 0 0.02037248 2097 4909 0.04487872 0.2113686 0.1281236 0.8482726 0.8568883 0.9427521 0.9245097 -0.8075276 -0.8568883 -0.8978734 -0.7131412 0.8525804 0.9336309 -0.832208 -0.8055073 0.02670069 TRUE TRUE NA NA NA NA NA IL3RA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL3RA NA NA NA ENSG00000185291 ENSE00001728827 NA NA NA NA NA NA NA 1.103728e-12 FALSE NA ENSE00001729072_000 ENSE00001729072 000 X 54022091 54022260 - 35 90 45 NA NA NA NA NA GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG 53995657 53995827 NA NA NA NA NA NA GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG natural 42 22 0.8084268 0.9634762 0.8859515 1517 1801 0.9417474 0.7844697 0.8631086 0.8084268 0.9634762 0.9417474 0.7844697 0 0 0 0 0.8859515 0.8631086 0 0 0 FALSE FALSE NA NA NA NA NA PHF8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHF8 NA NA NA ENSG00000172943 ENSE00001729072 NA NA NA NA NA NA NA 0.9982399 TRUE NA ENSE00001729072_002 ENSE00001729072 002 X 54022091 54022260 - 35 90 45 C A 54022108 544 153 GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCATGGAAGAAAAGGCATTTG 53995657 53995827 53995674 53995675 53995675 downstr_intron 18 1.529412 GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCATGGAAGAAAAGGCATTTG GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG mutant NA NA NA NA NA 144 547 1 0.9955664 0.9977832 0.8084268 0.9634762 0.9417474 0.7844697 NA NA 0.05825259 0.2110967 0.8859515 0.8631086 NA 0.1346747 NA FALSE NA 0.004 0.42 . intron_variant&NMD_transcript_variant MODIFIER PHF8 HGNC 20672 ENST00000413386 5/6 1 NA CCT C,A 8.237e-06 X:53995675 PHF8 HGNC Symbol protein_coding 112282 ENSG00000172943 ENSE00001729072 intron_variant 0.508015 0.22537 0.24887 0 0.7093179 0.046323 0.9982399 TRUE NA ENSE00001729072_003 ENSE00001729072 003 X 54022091 54022260 - 35 90 45 C T 54022136 545 125 CAAATGCCTTTTCTTCCCTGCCCCATGCTCCTTACTTCCACCAGGTGGATCTCCCTGGCCAGATCTTTAATGAGCTGTACGGTTCGCACTGTCTCCGGGATCTCATCCTCATGGTCTGGCAGAGCCTGTCAAACAAGAGGCATGAGGAATAAACCCACACATAAAGAGAC 53995657 53995827 53995702 53995703 53995703 exon -11 0.8888889 GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCACCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG mutant NA NA NA NA NA 113 752 1 0.9845929 0.9922964 0.8084268 0.9634762 0.9417474 0.7844697 NA NA 0.05825259 0.2001232 0.8859515 0.8631086 NA 0.1291879 NA FALSE NA 1 7.052 . missense_variant&NMD_transcript_variant MODERATE PHF8 HGNC 20672 ENST00000413386 5/7 1 deleterious(0.02) benign(0.059) NA GCG C,T 8.237e-06 X:53995703 PHF8 HGNC Symbol protein_coding 112282 ENSG00000172943 ENSE00001729072 missense_variant 4.890792 0.9924 0.9936 0 0.9978547 0 0.9982399 TRUE NA ENSE00001729072_005 ENSE00001729072 005 X 54022091 54022260 - 35 90 45 C T 54022175 547 86 CAAATGCCTTTTCTTCCCTGCCCCATGCTCCTTACTTCCACCAGGCGGATCTCCCTGGCCAGATCTTTAATGAGCTGTACGGTTTGCACTGTCTCCGGGATCTCATCCTCATGGTCTGGCAGAGCCTGTCAAACAAGAGGCATGAGGAATAAACCCACACATAAAGAGAC 53995657 53995827 53995741 53995742 53995742 exon 41 0.4555556 GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCAAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG mutant NA NA NA NA NA 714 2127 0.9518671 0.9474163 0.9496417 0.8084268 0.9634762 0.9417474 0.7844697 NA NA 0.01011965 0.1629466 0.8859515 0.8631086 NA 0.08653313 NA FALSE NA 1 1.544 . missense_variant&NMD_transcript_variant MODERATE PHF8 HGNC 20672 ENST00000413386 5/7 1 tolerated(0.3) benign(0.004) NA TCG C,T 4.942e-05 X:53995742 PHF8 HGNC Symbol protein_coding 112282 ENSG00000172943 ENSE00001729072 missense_variant 3.865844 0.97209 0.61282 0 0.9976543 0 0.9982399 TRUE NA ENSE00001729072_007 ENSE00001729072 007 X 54022091 54022260 - 35 90 45 C T 54022186 549 75 CAAATGCCTTTTCTTCCCTGCCCCATGCTCCTTACTTCCACCAGGCGGATCTCCCTGGCCAGATCTTTAATGAGCTGTACGGTTCGCACTGTCTCTGGGATCTCATCCTCATGGTCTGGCAGAGCCTGTCAAACAAGAGGCATGAGGAATAAACCCACACATAAAGAGAC 53995657 53995827 53995752 53995753 53995753 exon 30 0.3333333 GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCAGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG mutant NA NA NA NA NA 70 687 0.895852 0.8166139 0.8562329 0.8084268 0.9634762 0.9417474 0.7844697 NA NA -0.04589541 0.03214419 0.8859515 0.8631086 NA -0.006875609 NA FALSE NA 0.002 -2.777 . synonymous_variant&NMD_transcript_variant LOW PHF8 HGNC 20672 ENST00000413386 5/7 1 NA CCG C,T 8.237e-06 X:53995753 PHF8 HGNC Symbol protein_coding 112282 ENSG00000172943 ENSE00001729072 synonymous_variant 2.162739 0.35797 0.01284 0 0.5450862 0 0.9982399 TRUE NA ENSE00001729072_008 ENSE00001729072 008 X 54022091 54022260 - 35 90 45 G A 54022218 550 43 GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGATAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG 53995657 53995827 53995784 53995785 53995785 upstr_intron -3 -0.04444444 GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGATAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG mutant NA NA NA NA NA 472 56 0.8725936 0.9046549 0.8886242 0.8084268 0.9634762 0.9417474 0.7844697 NA NA -0.06915383 0.1201852 0.8859515 0.8631086 NA 0.02551569 NA FALSE NA 1 3.454 . splice_region_variant&intron_variant&NMD_transcript_variant LOW PHF8 HGNC 20672 ENST00000413386 4/6 1 NA TGT G,A 3.295e-05 X:53995785 PHF8 HGNC Symbol protein_coding 112282 ENSG00000172943 ENSE00001729072 splice_region_variant 1.918775 0.98087 0.95274 0 0.9428409 0.960954 0.9982399 TRUE 2.30371e-05 ENSE00001729072_009 ENSE00001729072 009 X 54022091 54022260 - 35 90 45 G A 54022237 551 24 GTCTCTTTATGTGTGGGTTTATTTCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG 53995657 53995827 53995803 53995804 53995804 upstr_intron -22 -0.4666667 GTCTCTTTATGTGTGGGTTTATTTCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG mutant NA NA NA NA NA 337 374 0.9998778 0.9991818 0.9995298 0.8084268 0.9634762 0.9417474 0.7844697 NA NA 0.05813041 0.2147121 0.8859515 0.8631086 NA 0.1364212 NA FALSE NA 1 1.679 . intron_variant&NMD_transcript_variant MODIFIER PHF8 HGNC 20672 ENST00000413386 4/6 1 NA GGA G,A 8.243e-06 X:53995804 PHF8 HGNC Symbol protein_coding 112282 ENSG00000172943 ENSE00001729072 intron_variant 2.039462 0.20205 0.19079 0 0.7689612 0.227366 0.9982399 TRUE 1.81662e-05 ENSE00001729072_BRK ENSE00001729072 BRK X 54022091 54022260 - 35 90 45 A,G; T,T NA NA NA GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACTTGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAACCAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG 53995657 53995827 NA NA NA NA NA NA GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACTTGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAACCAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG GTCTCTTTATGTGTGGGTTTATTCCTCATGCCTCTTGTTTGACAGGCTCTGCCAGACCATGAGGATGAGATCCCGGAGACAGTGCGAACCGTACAGCTCATTAAAGATCTGGCCAGGGAGATCCGCCTGGTGGAAGTAAGGAGCATGGGGCAGGGAAGAAAAGGCATTTG control 42 10 0 0 0 NA NA NA NA NA 0.8084268 0.9634762 0.9417474 0.7844697 -0.8084268 -0.9634762 NA NA 0.8859515 0.8631086 -0.8859515 NA NA NA TRUE NA NA NA NA NA PHF8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHF8 NA NA NA ENSG00000172943 ENSE00001729072 NA NA NA NA NA NA NA 0.9982399 TRUE NA ENSE00001729917_000 ENSE00001729917 000 7 90528547 90528716 + 59 63 48 NA NA NA NA NA ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGGTTAGCATTCTTGATGTGTAT 90899231 90899401 NA NA NA NA NA NA ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGGTTAGCATTCTTGATGTGTAT ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGGTTAGCATTCTTGATGTGTAT natural NA NA NA NA NA 953 468 0.9852588 0.9685501 0.9769045 NA NA 0.9852588 0.9685501 NA NA 0 0 NA 0.9769045 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK14 NA NA NA ENSG00000058091 ENSE00003537906 NA NA NA NA NA NA NA 0.4762601 FALSE NA ENSE00001729917_016 ENSE00001729917 016 7 90528547 90528716 + 59 63 48 G T 90528696 1506 150 ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGTTTAGCATTCTTGATGTGTAT 90899231 90899401 90899380 90899381 90899381 downstr_intron 28 1.595745 ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGTTTAGCATTCTTGATGTGTAT ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGGTTAGCATTCTTGATGTGTAT mutant NA NA NA NA NA 200 52 1 1 1 NA NA 0.9852588 0.9685501 NA NA 0.01474117 0.03144992 NA 0.9769045 NA 0.02309555 NA FALSE NA 0.001 0.037 NA NA NA CDK14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:90899381 CDK14 HGNC Symbol protein_coding 744166 ENSG00000058091 ENSE00003537906 intron_variant -0.359665 0.15898 0.0395 0.078448 0.3453648 0.0463496 0.4762601 FALSE 4.69083e-06 ENSE00001729917_018 ENSE00001729917 018 7 90528547 90528716 + 59 63 48 T C 90528698 1508 152 ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGGTCAGCATTCTTGATGTGTAT 90899231 90899401 90899382 90899383 90899383 downstr_intron 30 1.638298 ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGGTCAGCATTCTTGATGTGTAT ATTGATTTATTATGTTATAGCCAGAGGGTTATTAATACATTTTTCCTTTTCTTTTCTAGCACACTGATTTATGTCAGTACATGGACAAGCACCCTGGGGGGCTGCATCCAGATAATGTGAAGGTAGGAAAAGATCTTTTTAAGCCAAAGGTTAGCATTCTTGATGTGTAT mutant NA NA NA NA NA 12 136 1 1 1 NA NA 0.9852588 0.9685501 NA NA 0.01474117 0.03144992 NA 0.9769045 NA 0.02309555 NA FALSE NA 0.038 2.225 . intron_variant MODIFIER CDK14 HGNC 8883 ENST00000436577 5/12 1 NA TTA T,C 8.244e-06 7:90899383 CDK14 HGNC Symbol protein_coding 744166 ENSG00000058091 ENSE00003537906 intron_variant 0.147981 0.28531 0.26268 0.078448 0.553809 0.0463496 0.4762601 FALSE NA ENSE00001730528_000 ENSE00001730528 000 4 109766297 109766466 - 48 63 59 NA NA NA NA NA TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 NA NA NA NA NA NA TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC natural 20 102 0.85 0.85 0.85 804 914 0.8011692 0.7981134 0.7996413 0.85 0.85 0.8011692 0.7981134 0 0 0 0 0.85 0.7996413 0 0 0 FALSE FALSE NA NA NA NA NA COL25A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL25A1 NA NA NA ENSG00000188517 ENSE00003667429 NA NA NA NA NA NA NA 7.11572e-08 FALSE NA ENSE00001730528_004 ENSE00001730528 004 4 109766297 109766466 - 48 63 59 A G 109766323 1122 144 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACCTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845166 108845167 108845167 downstr_intron 22 1.468085 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACCTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 75 213 0.9216818 0.8330987 0.8773902 0.85 0.85 0.8011692 0.7981134 NA NA 0.1205126 0.0349853 0.85 0.7996413 NA 0.07774895 NA FALSE NA 0 -0.118 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 26/32 1 NA AAG A,G 8.268e-06 4:108845167 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 intron_variant 0.100247 0.17726 0.00886 0.061011 0.6620615 0.0821837 7.11572e-08 FALSE 4.06706e-06 ENSE00001730528_007 ENSE00001730528 007 4 109766297 109766466 - 48 63 59 A T 109766339 1125 128 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGACCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845182 108845183 108845183 downstr_intron 6 1.12766 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGACCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 1730 130 0.00173919 0 0.0008695952 0.85 0.85 0.8011692 0.7981134 NA NA -0.79943 -0.7981134 0.85 0.7996413 NA -0.7987717 NA TRUE NA 1 6.955 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 26/32 1 NA GAC A,T 8.273e-06 4:108845183 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 splice_region_variant 1.325038 0.98681 0.97819 0.061011 0.9143354 0.841097 7.11572e-08 FALSE 4.06659e-06 ENSE00001730528_009 ENSE00001730528 009 4 109766297 109766466 - 48 63 59 C T 109766352 1127 115 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGATCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845195 108845196 108845196 exon -8 0.8888889 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGATCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 344 91 0.9773862 0.9987354 0.9880608 0.85 0.85 0.8011692 0.7981134 NA NA 0.176217 0.200622 0.85 0.7996413 NA 0.1884195 NA FALSE NA 1 5.842 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 26/33 1 unknown(0) NA ACC C,T 1.655e-05 4:108845196 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 missense_variant 5.775726 0.98971 0.96749 0.553676 0.995527 0 7.11572e-08 FALSE 8.13266e-06 ENSE00001730528_010 ENSE00001730528 010 4 109766297 109766466 - 48 63 59 C T 109766354 1128 113 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAAGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845197 108845198 108845198 exon -10 0.8571429 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAAGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 95 18 0.9919321 1 0.995966 0.85 0.85 0.8011692 0.7981134 NA NA 0.1907629 0.2018866 0.85 0.7996413 NA 0.1963248 NA FALSE NA 0.984 0.077 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 26/33 rs370474958&COSM1426305&COSM1426306 1 NA T:0 T:0.0001 CCT C,T 2.482e-05 4:108845198 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 missense_variant 1.766896 0.97064 0.54282 0.553676 0.9951465 0 7.11572e-08 FALSE 1.62664e-05 ENSE00001730528_011 ENSE00001730528 011 4 109766297 109766466 - 48 63 59 T C 109766355 1129 112 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACGGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845198 108845199 108845199 exon -11 0.8412698 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACGGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 804 438 0.8237918 0.9207114 0.8722516 0.85 0.85 0.8011692 0.7981134 NA NA 0.02262269 0.122598 0.85 0.7996413 NA 0.07261034 NA FALSE NA 1 6.004 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 26/33 1 unknown(0) NA CTG T,C 8.274e-06 4:108845199 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 missense_variant 4.576098 0.98733 0.96483 0.553676 0.9947698 0 7.11572e-08 FALSE 4.06656e-06 ENSE00001730528_012 ENSE00001730528 012 4 109766297 109766466 - 48 63 59 C T 109766363 1130 104 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCAGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845206 108845207 108845207 exon -19 0.7142857 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCAGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 390 255 0 0 0 0.85 0.85 0.8011692 0.7981134 NA NA -0.8011692 -0.7981134 0.85 0.7996413 NA -0.7996413 NA TRUE NA 0.062 -1.789 . synonymous_variant LOW COL25A1 HGNC 18603 ENST00000399127 26/33 1 NA CCG C,T 1.655e-05 4:108845207 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 missense_variant 2.004749 0.613 0.01603 0.553676 0.7771047 0 7.11572e-08 FALSE 3.25325e-05 ENSE00001730528_014 ENSE00001730528 014 4 109766297 109766466 - 48 63 59 T G 109766368 1132 99 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGACTGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845211 108845212 108845212 exon -24 0.6349206 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGACTGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 391 332 0.02079985 0.009806819 0.01530334 0.85 0.85 0.8011692 0.7981134 NA NA -0.7803693 -0.7883066 0.85 0.7996413 NA -0.7843379 NA TRUE NA 0.974 0.415 . missense_variant MODERATE COL25A1 HGNC 18603 ENST00000399127 26/33 1 unknown(0) NA ATT T,G 8.276e-06 4:108845212 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 missense_variant 2.092877 0.96475 0.51772 0.553676 0.7567654 0 7.11572e-08 FALSE 4.066e-06 ENSE00001730528_018 ENSE00001730528 018 4 109766297 109766466 - 48 63 59 T C 109766411 1136 56 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTGTAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845254 108845255 108845255 upstr_intron -4 -0.05084746 TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTGTAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 245 14 0.838657 0.8 0.8193285 0.85 0.85 0.8011692 0.7981134 NA NA 0.03748786 0.001886592 0.85 0.7996413 NA 0.01968723 NA FALSE NA 0.416 -0.227 . splice_region_variant&intron_variant LOW COL25A1 HGNC 18603 ENST00000399127 25/32 1 NA ATA C,C 8.278e-06 4:108845255 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 splice_region_variant 0.032247 0.76524 0.09811 0.061011 0.5964931 0.195828 7.11572e-08 FALSE NA ENSE00001730528_021 ENSE00001730528 021 4 109766297 109766466 - 48 63 59 C T 109766436 1139 31 TTGTCTCTTACACTGGAAATAACTTTACCTACTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845279 108845280 108845280 upstr_intron -29 -0.4745763 TTGTCTCTTACACTGGAAATAACTTTACCTACTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 159 89 0.8 0.9395215 0.8697608 0.85 0.85 0.8011692 0.7981134 NA NA -0.001169151 0.1414081 0.85 0.7996413 NA 0.07011949 NA FALSE NA 0.007 -0.903 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 25/32 1 NA GCA C,T 8.278e-06 4:108845280 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 intron_variant 0.232158 0.23207 0.04359 0.061011 0.6556113 0.0832456 7.11572e-08 FALSE 8.13948e-06 ENSE00001730528_022 ENSE00001730528 022 4 109766297 109766466 - 48 63 59 G C 109766438 1140 29 TTGTCTCTTACACTGGAAATAACTTTACGTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845281 108845282 108845282 upstr_intron -31 -0.5084746 TTGTCTCTTACACTGGAAATAACTTTACGTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 1050 68 0.80184 0.8 0.80092 0.85 0.85 0.8011692 0.7981134 NA NA 0.0006708329 0.001886592 0.85 0.7996413 NA 0.001278712 NA FALSE NA 0 -0.118 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 25/32 1 NA AGG G,C 8.278e-06 4:108845282 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 intron_variant -0.173258 0.24301 0.11862 0.061011 0.4777481 0.0832456 7.11572e-08 FALSE 4.07093e-06 ENSE00001730528_023 ENSE00001730528 023 4 109766297 109766466 - 48 63 59 A G 109766443 1141 24 TTGTCTCTTACACTGGAAATAACCTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC 108845140 108845310 108845286 108845287 108845287 upstr_intron -36 -0.5932203 TTGTCTCTTACACTGGAAATAACCTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC TTGTCTCTTACACTGGAAATAACTTTACCTGCTTAACTCTGCTTAATGGTTATTTATAGGGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCGGGTCCACAGGGTCCTTCTGTAAGTCCATGGTGGCTGAACTTCCATTGTTCCTGAACCTCCTCACAC mutant NA NA NA NA NA 832 485 0.7974393 0.9634202 0.8804297 0.85 0.85 0.8011692 0.7981134 NA NA -0.003729893 0.1653068 0.85 0.7996413 NA 0.08078845 NA FALSE NA 0.01 0.848 . intron_variant MODIFIER COL25A1 HGNC 18603 ENST00000399127 25/32 1 NA AAG A,G 8.279e-06 4:108845287 COL25A1 HGNC Symbol protein_coding 494027 ENSG00000188517 ENSE00003667429 intron_variant -0.076969 0.21846 0.10616 0.061011 0.7337575 0.0832456 7.11572e-08 FALSE 8.14392e-06 ENSE00001730636_000 ENSE00001730636 000 20 33971809 33971978 - 32 96 42 NA NA NA NA NA TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 NA NA NA NA NA NA TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG natural 575 899 0.8638458 0.8512029 0.8575243 5870 4899 0.9309354 0.9606588 0.9457971 0.8638458 0.8512029 0.9309354 0.9606588 0 0 0 0 0.8575243 0.9457971 0 0 0 FALSE FALSE NA NA NA NA NA UQCC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UQCC1 NA NA NA ENSG00000101019 ENSE00003550220 NA NA NA NA NA NA NA 0.004854425 FALSE NA ENSE00001730636_001 ENSE00001730636 001 20 33971809 33971978 - 32 96 42 T C 33971823 741 156 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCGTTCTGTGTTTATAG 35384005 35384175 35384019 35384020 35384020 downstr_intron 18 1.580645 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCGTTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 187 1634 0.9894161 0.9788025 0.9841093 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.05848065 0.01814363 0.8575243 0.9457971 NA 0.03831214 NA FALSE NA 0.004 0.04 rs182314229 intron_variant MODIFIER UQCC1 HGNC 15891 ENST00000359226 3/6 rs182314229 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATG T,C 8.236e-06 20:35384020 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 intron_variant -0.274785 0.18047 0.02395 0.295142 0.5372794 0.046323 0.004854425 FALSE NA ENSE00001730636_002 ENSE00001730636 002 20 33971809 33971978 - 32 96 42 T C 33971831 742 148 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTGTCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384027 35384028 35384028 downstr_intron 10 1.322581 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTGTCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 783 2410 0.9663032 0.9654508 0.965877 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.03536773 0.004791921 0.8575243 0.9457971 NA 0.02007982 NA FALSE NA 0.296 1.148 . intron_variant MODIFIER UQCC1 HGNC 15891 ENST00000359226 3/6 rs199820328 1 NA ATA T,C 0.0001318 20:35384028 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 intron_variant 0.443199 0.20219 0.27294 0.295142 0.6727899 0.0542882 0.004854425 FALSE 0.000117913 ENSE00001730636_003 ENSE00001730636 003 20 33971809 33971978 - 32 96 42 A C 33971832 743 147 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATGATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384028 35384029 35384029 downstr_intron 9 1.290323 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATGATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 188 195 0.8531821 0.841914 0.8475481 0.8638458 0.8512029 0.9309354 0.9606588 NA NA -0.0777533 -0.1187448 0.8575243 0.9457971 NA -0.09824904 NA FALSE NA 0.954 0.924 . intron_variant MODIFIER UQCC1 HGNC 15891 ENST00000359226 3/6 1 NA TAA A,C 8.236e-06 20:35384029 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 intron_variant 0.977822 0.4305 0.62854 0.295142 0.7477496 0.0536794 0.004854425 FALSE NA ENSE00001730636_004 ENSE00001730636 004 20 33971809 33971978 - 32 96 42 T A 33971842 744 137 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTATGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384038 35384039 35384039 exon -2 0.9895833 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTATGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 276 299 0.01702094 0.001071377 0.009046159 0.8638458 0.8512029 0.9309354 0.9606588 NA NA -0.9139145 -0.9595875 0.8575243 0.9457971 NA -0.936751 NA TRUE NA 1 3.973 rs187841461 missense_variant&splice_region_variant MODERATE UQCC1 HGNC 15891 ENST00000359226 3/7 rs187841461 1 deleterious_low_confidence(0) benign(0.248) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CTT T,A 4.942e-05 20:35384039 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 missense_variant 5.810628 0.97513 0.9374 0.706548 0.992718 0 0.004854425 FALSE 6.9063e-05 ENSE00001730636_006 ENSE00001730636 006 20 33971809 33971978 - 32 96 42 G A 33971850 746 129 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACTACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384046 35384047 35384047 exon -10 0.90625 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACTACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 1839 953 0.9036096 0.8938207 0.8987152 0.8638458 0.8512029 0.9309354 0.9606588 NA NA -0.02732582 -0.06683811 0.8575243 0.9457971 NA -0.04708197 NA FALSE NA 0.991 0.678 . synonymous_variant LOW UQCC1 HGNC 15891 ENST00000359226 3/7 1 NA TGG G,A 8.236e-06 20:35384047 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 synonymous_variant 0.295043 0.27415 0.39963 0.706548 0.3613245 0 0.004854425 FALSE 4.0621e-06 ENSE00001730636_007 ENSE00001730636 007 20 33971809 33971978 - 32 96 42 G T 33971851 747 128 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACAACACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384047 35384048 35384048 exon -11 0.8958333 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACAACACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 1317 519 0.9601428 0.9615389 0.9608408 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.02920737 0.0008800358 0.8575243 0.9457971 NA 0.0150437 NA FALSE NA 0.989 0.012 . missense_variant MODERATE UQCC1 HGNC 15891 ENST00000359226 3/7 1 tolerated_low_confidence(0.78) benign(0.003) NA GGT G,T 8.236e-06 20:35384048 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 missense_variant -0.578906 0.28424 0.34135 0.706548 0.7925762 0 0.004854425 FALSE 4.06174e-06 ENSE00001730636_008 ENSE00001730636 008 20 33971809 33971978 - 32 96 42 C T 33971859 748 120 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAATATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384055 35384056 35384056 exon -19 0.8125 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAATATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 521 401 0.9800141 0.95 0.9650071 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.04907869 -0.01065883 0.8575243 0.9457971 NA 0.01920993 NA FALSE NA 0.075 -0.737 . synonymous_variant LOW UQCC1 HGNC 15891 ENST00000359226 3/7 rs11549289 1 NA ACT C,T 8.236e-06 20:35384056 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 synonymous_variant 1.026118 0.89247 0.11492 0.706548 0.3654189 0 0.004854425 FALSE 4.06151e-06 ENSE00001730636_009 ENSE00001730636 009 20 33971809 33971978 - 32 96 42 T C 33971876 749 103 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACGTACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384072 35384073 35384073 exon -36 0.6354167 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACGTACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 1882 280 0.9963443 0.99239 0.9943672 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.0654089 0.03173114 0.8575243 0.9457971 NA 0.04857002 NA FALSE NA 0 -0.025 rs114745625 missense_variant MODERATE UQCC1 HGNC 15891 ENST00000359226 3/7 rs114745625 1 tolerated_low_confidence(1) benign(0.014) C:0.0026 C:0.0098 C:0 NA C:0 C:0 C:0 C:0.0129 C:0 ATG T,C 0.001268 20:35384073 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 missense_variant -2.22697 0.16177 0.0407 0.706548 0.1936585 0 0.004854425 FALSE 0.00097059 ENSE00001730636_010 ENSE00001730636 010 20 33971809 33971978 - 32 96 42 T G 33971878 750 101 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGCCATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384074 35384075 35384075 exon -38 0.6145833 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGCCATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 83 533 0.9577411 0.9214013 0.9395712 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.0268057 -0.03925757 0.8575243 0.9457971 NA -0.006225933 NA FALSE NA 0.001 0.109 . missense_variant MODERATE UQCC1 HGNC 15891 ENST00000359226 3/7 rs369092412 1 tolerated_low_confidence(0.66) benign(0.053) NA G:0.0002 G:0 GTC T,G 8.236e-06 20:35384075 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 missense_variant -0.920341 0.19316 0.06983 0.706548 0.4340426 0 0.004854425 FALSE 4.06105e-06 ENSE00001730636_011 ENSE00001730636 011 20 33971809 33971978 - 32 96 42 A G 33971886 751 93 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCCGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384082 35384083 35384083 exon -46 0.53125 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCCGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 1330 308 0.8536405 0.964162 0.9089012 0.8638458 0.8512029 0.9309354 0.9606588 NA NA -0.07729492 0.003503134 0.8575243 0.9457971 NA -0.03689589 NA FALSE NA 0.961 2.221 rs140328810 synonymous_variant LOW UQCC1 HGNC 15891 ENST00000359226 3/7 rs140328810 1 NA G:0.0009 G:0 CAG A,G 6.589e-05 20:35384083 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 synonymous_variant -0.304699 0.85889 0.75649 0.706548 0.5855867 0 0.004854425 FALSE 4.46722e-05 ENSE00001730636_012 ENSE00001730636 012 20 33971809 33971978 - 32 96 42 C T 33971914 752 65 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384110 35384111 35384111 exon 23 0.2395833 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 256 1193 0.8738629 0.800333 0.8370979 0.8638458 0.8512029 0.9309354 0.9606588 NA NA -0.05707253 -0.1603259 0.8575243 0.9457971 NA -0.1086992 NA FALSE NA 0 -0.101 rs4911494 missense_variant MODERATE UQCC1 HGNC 15891 ENST00000359226 3/7 rs4911494 1 tolerated_low_confidence(0.54) benign(0.012) C:0.4724 T:0.3056 T:0.7104 NA T:0.7113 T:0.6203 T:0.4131 T:0.3659 T:0.6077 TCG C,T 0.577 20:35384111 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 missense_variant -0.52339 0.1101 0.00968 0.706548 0.6220011 0 0.004854425 FALSE 0.588497 ENSE00001730636_013 ENSE00001730636 013 20 33971809 33971978 - 32 96 42 G C 33971916 753 63 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCGCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384112 35384113 35384113 exon 21 0.21875 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCGCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 2854 433 0.9879749 0.9927235 0.9903492 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.05703949 0.03206469 0.8575243 0.9457971 NA 0.04455209 NA FALSE NA 0 0.878 . synonymous_variant LOW UQCC1 HGNC 15891 ENST00000359226 3/7 COSM3545697 1 NA GGG G,C 7.413e-05 20:35384113 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 synonymous_variant -0.039276 0.19346 0.1423 0.706548 0.5638661 0 0.004854425 FALSE 4.06131e-05 ENSE00001730636_014 ENSE00001730636 014 20 33971809 33971978 - 32 96 42 G C 33971917 754 62 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTGCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384113 35384114 35384114 exon 20 0.2083333 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTGCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 615 1086 0.9825945 0.8105732 0.8965839 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.05165911 -0.1500856 0.8575243 0.9457971 NA -0.04921325 NA FALSE NA 0 0.129 . missense_variant MODERATE UQCC1 HGNC 15891 ENST00000359226 3/7 rs552773495 1 tolerated_low_confidence(0.08) benign(0.142) NA GGA G,C 8.236e-06 20:35384114 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 missense_variant 0.498628 0.19589 0.1174 0.706548 0.850828 0 0.004854425 FALSE 8.12315e-06 ENSE00001730636_015 ENSE00001730636 015 20 33971809 33971978 - 32 96 42 G A 33971932 755 47 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCTCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384128 35384129 35384129 exon 5 0.05208333 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCTCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 389 31 0.004231718 0.03760236 0.02091704 0.8638458 0.8512029 0.9309354 0.9606588 NA NA -0.9267037 -0.9230565 0.8575243 0.9457971 NA -0.9248801 NA TRUE NA 0.015 -0.233 . missense_variant MODERATE UQCC1 HGNC 15891 ENST00000359226 3/7 1 tolerated_low_confidence(0.66) benign(0.024) NA GGG G,A 8.236e-06 20:35384129 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 missense_variant 2.086118 0.9077 0.0864 0.706548 0.4044836 0 0.004854425 FALSE 8.12704e-06 ENSE00001730636_016 ENSE00001730636 016 20 33971809 33971978 - 32 96 42 G A 33971933 756 46 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGTCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384129 35384130 35384130 exon 4 0.04166667 TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGTCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 3529 658 0.9916122 0.9727028 0.9821575 0.8638458 0.8512029 0.9309354 0.9606588 NA NA 0.06067677 0.012044 0.8575243 0.9457971 NA 0.03636039 NA FALSE NA 0.093 0.092 . missense_variant MODERATE UQCC1 HGNC 15891 ENST00000359226 3/7 1 tolerated_low_confidence(0.41) benign(0.018) NA GGC G,A 8.236e-06 20:35384130 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 missense_variant 0.792728 0.91743 0.14021 0.706548 0.7303952 0 0.004854425 FALSE 4.06369e-06 ENSE00001730636_017 ENSE00001730636 017 20 33971809 33971978 - 32 96 42 A G 33971950 757 29 TAAGTGCTCAGTGTTGCATAGATCTGTGCTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 35384146 35384147 35384147 upstr_intron -14 -0.3095238 TAAGTGCTCAGTGTTGCATAGATCTGTGCTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG mutant NA NA NA NA NA 2936 184 0.8086701 0.8621924 0.8354313 0.8638458 0.8512029 0.9309354 0.9606588 NA NA -0.1222653 -0.09846639 0.8575243 0.9457971 NA -0.1103658 NA FALSE NA 0.001 0.572 . intron_variant MODIFIER UQCC1 HGNC 15891 ENST00000359226 2/6 1 NA AAC A,G 8.236e-06 20:35384147 UQCC1 HGNC Symbol protein_coding 109575 ENSG00000101019 ENSE00003550220 intron_variant 0.444345 0.30106 0.03649 0.099367 0.7435823 0.046323 0.004854425 FALSE 4.07027e-06 ENSE00001730636_BRK ENSE00001730636 BRK 20 33971809 33971978 - 32 96 42 A,G; T,T NA NA NA TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCTTTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGCCGAGAATTATCAGTGCATTCTGTGTTTATAG 35384005 35384175 NA NA NA NA NA NA TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCTTTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGCCGAGAATTATCAGTGCATTCTGTGTTTATAG TAAGTGCTCAGTGTTGCATAGATCTGTGTTTTTATTCTTCAGTGGCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAACAGATTCCTGGAATAGACATACAGCTGAATAGGAAGTATCACACCACACGTAAGGTGAGAATTATCAGTGCATTCTGTGTTTATAG control NA NA NA NA NA 782 143 0 0 0 0.8638458 0.8512029 0.9309354 0.9606588 NA NA -0.9309354 -0.9606588 0.8575243 0.9457971 NA -0.9457971 NA TRUE NA NA NA NA NA NA UQCC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UQCC1 NA NA NA ENSG00000101019 ENSE00003550220 NA NA NA NA NA NA NA 0.004854425 FALSE NA ENSE00001730673_000 ENSE00001730673 000 9 116958176 116958345 + 63 54 53 NA NA NA NA NA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 NA NA NA NA NA NA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA natural 64 44 0.8875612 0.984054 0.9358076 928 1461 0.9980041 0.8178891 0.9079466 0.8875612 0.984054 0.9980041 0.8178891 0 0 0 0 0.9358076 0.9079466 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00001730673 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001730673_002 ENSE00001730673 002 9 116958176 116958345 + 63 54 53 C G 116958199 1597 24 GAGTGTAGCAGAGTGTCTCTGCTGCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195918 114195919 114195919 upstr_intron -40 -0.6190476 GAGTGTAGCAGAGTGTCTCTGCTGCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 40 65 1 1 1 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1821109 0.9358076 0.9079466 NA 0.0920534 NA FALSE NA 0 0.264 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 3/57 1 NA TCC C,G 8.236e-06 9:114195919 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant 0.123881 0.19069 0.15898 0.062308 0.6839656 0.0448725 0.9999994 TRUE 1.22074e-05 ENSE00001730673_003 ENSE00001730673 003 9 116958176 116958345 + 63 54 53 C T 116958201 1598 26 GAGTGTAGCAGAGTGTCTCTGCTCCTGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195920 114195921 114195921 upstr_intron -38 -0.5873016 GAGTGTAGCAGAGTGTCTCTGCTCCTGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 15 642 1 0.999405 0.9997025 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1815159 0.9358076 0.9079466 NA 0.09175591 NA FALSE NA 0 -2.334 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114195921 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant -0.117891 0.09157 0.00308 0.084033 0.6961236 0.0448725 0.9999994 TRUE 1.62767e-05 ENSE00001730673_004 ENSE00001730673 004 9 116958176 116958345 + 63 54 53 C G 116958201 1599 26 GAGTGTAGCAGAGTGTCTCTGCTCCGGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195920 114195921 114195921 upstr_intron -38 -0.5873016 GAGTGTAGCAGAGTGTCTCTGCTCCGGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 212 497 1 0.9995392 0.9997696 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1816501 0.9358076 0.9079466 NA 0.09182302 NA FALSE NA 0 -2.334 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00001730673 intron_variant -0.290765 0.15105 0.02991 0.084033 0.6657988 0.0448725 0.9999994 TRUE 1.62767e-05 ENSE00001730673_007 ENSE00001730673 007 9 116958176 116958345 + 63 54 53 T C 116958209 1602 34 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCCGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195928 114195929 114195929 upstr_intron -30 -0.4603175 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCCGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 159 259 0.9971176 1 0.9985588 0.8875612 0.984054 0.9980041 0.8178891 NA NA -0.0008864257 0.1821109 0.9358076 0.9079466 NA 0.09061222 NA FALSE NA 0 -2.773 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 3/57 1 NA CTG T,C 2.471e-05 9:114195929 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant 0.149716 0.11928 0.00052 0.084033 0.5921875 0.0448725 0.9999994 TRUE 1.21965e-05 ENSE00001730673_008 ENSE00001730673 008 9 116958176 116958345 + 63 54 53 C T 116958214 1603 39 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTTACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195933 114195934 114195934 upstr_intron -25 -0.3809524 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTTACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 210 11 1 1 1 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1821109 0.9358076 0.9079466 NA 0.0920534 NA FALSE NA 0.002 -0.171 rs2567710 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 3/57 rs2567710 1 T:0.1665 T:0.385 T:0.0692 NA T:0.0188 T:0.0934 T:0.1677 T:0.3298 T:0.1141 TCA C,T 0.118 9:114195934 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant 0.334612 0.17833 0.06397 0.084033 0.7196796 0.0455939 0.9999994 TRUE 0.110956 ENSE00001730673_009 ENSE00001730673 009 9 116958176 116958345 + 63 54 53 C T 116958216 1604 41 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCATCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195935 114195936 114195936 upstr_intron -23 -0.3492063 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCATCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 211 397 1 1 1 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1821109 0.9358076 0.9079466 NA 0.0920534 NA FALSE NA 0 0.014 rs2567711 intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 3/57 rs2567711 1 C:0.2961 T:0.6815 T:0.7738 NA T:0.504 T:0.7753 T:0.817 T:0.7158 T:0.7758 ACC C,T 0.758 9:114195936 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant 0.197404 0.16313 0.02074 0.084033 0.6613252 0.0448725 0.9999994 TRUE 0.759667 ENSE00001730673_010 ENSE00001730673 010 9 116958176 116958345 + 63 54 53 A G 116958219 1605 44 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCGCCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195938 114195939 114195939 upstr_intron -20 -0.3015873 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCGCCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 167 196 0.9957339 0.9991922 0.9974631 0.8875612 0.984054 0.9980041 0.8178891 NA NA -0.002270154 0.1813031 0.9358076 0.9079466 NA 0.08951648 NA FALSE NA 0 -1.915 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 3/57 1 NA CAC A,G 1.647e-05 9:114195939 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant -0.368073 0.11821 0.01052 0.084033 0.3970077 0.0448725 0.9999994 TRUE 8.1283e-06 ENSE00001730673_011 ENSE00001730673 011 9 116958176 116958345 + 63 54 53 C T 116958226 1606 51 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTTTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195945 114195946 114195946 upstr_intron -13 -0.1904762 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTTTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 289 206 1 1 1 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1821109 0.9358076 0.9079466 NA 0.0920534 NA FALSE NA 0.021 0.171 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 3/57 rs376995958 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0032 T:0 TCT C,T 0.0002636 9:114195946 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant 0.464311 0.67564 0.0889 0.084033 0.6739169 0.229625 0.9999994 TRUE 0.000203136 ENSE00001730673_014 ENSE00001730673 014 9 116958176 116958345 + 63 54 53 G A 116958266 1609 91 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCAGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114195985 114195986 114195986 exon -27 0.5185185 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCAGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 341 32 0.9990653 1 0.9995327 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001061243 0.1821109 0.9358076 0.9079466 NA 0.09158606 NA FALSE NA 1 5.619 . missense_variant&NMD_transcript_variant MODERATE COL27A1 HGNC 22986 ENST00000494090 4/58 rs201221528 1 deleterious(0) unknown(0) NA A:0.0002 A:0.0007 CGG G,A 0.0002306 9:114195986 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 missense_variant 5.536976 0.9879 0.98433 0.736574 0.9851861 0 0.9999994 TRUE 0.000259932 ENSE00001730673_018 ENSE00001730673 018 9 116958176 116958345 + 63 54 53 C T 116958282 1613 107 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCTGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114196001 114196002 114196002 exon -11 0.8148148 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCTGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 67 13 0.9919658 1 0.9959829 0.8875612 0.984054 0.9980041 0.8178891 NA NA -0.006038227 0.1821109 0.9358076 0.9079466 NA 0.08803632 NA FALSE NA 0.841 0.902 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114196002 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 missense_variant 2.943631 0.10347 0.00674 0.736574 0.8540397 0 0.9999994 TRUE 1.21861e-05 ENSE00001730673_019 ENSE00001730673 019 9 116958176 116958345 + 63 54 53 G A 116958283 1614 108 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCAGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114196002 114196003 114196003 exon -10 0.8333333 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCAGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 168 336 1 1 1 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1821109 0.9358076 0.9079466 NA 0.0920534 NA FALSE NA 0.921 0.418 rs10982098 synonymous_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 4/58 rs10982098 1 A:0.0078 A:0.0295 A:0 NA A:0 A:0 A:0 A:0.0229 A:0 CGG G,A 0.001837 9:114196003 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 synonymous_variant 1.757715 0.39619 0.23811 0.736574 0.6438289 0 0.9999994 TRUE 0.00145422 ENSE00001730673_024 ENSE00001730673 024 9 116958176 116958345 + 63 54 53 G A 116958311 1619 136 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATACTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114196030 114196031 114196031 downstr_intron 19 1.365385 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATACTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 79 814 1 0.9971882 0.9985941 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1792991 0.9358076 0.9079466 NA 0.09064751 NA FALSE NA 0 -0.421 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 4/57 1 NA TGC G,A 8.236e-06 9:114196031 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant 0.516227 0.18255 0.01837 0.084033 0.617875 0.121998 0.9999994 TRUE 4.06749e-06 ENSE00001730673_025 ENSE00001730673 025 9 116958176 116958345 + 63 54 53 T C 116958314 1620 139 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTCTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114196033 114196034 114196034 downstr_intron 22 1.423077 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTCTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 1252 321 0.9997697 0.9930389 0.9964043 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001765619 0.1751498 0.9358076 0.9079466 NA 0.08845769 NA FALSE NA 0.067 0.857 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 4/57 1 NA TTT T,C 1.647e-05 9:114196034 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant 0.095207 0.17294 0.0966 0.084033 0.6096279 0.121998 0.9999994 TRUE 8.13517e-06 ENSE00001730673_028 ENSE00001730673 028 9 116958176 116958345 + 63 54 53 G A 116958323 1623 148 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCACAGTGGGCCTCCTAGCAAGCCA 114195895 114196065 114196042 114196043 114196043 downstr_intron 31 1.596154 GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCACAGTGGGCCTCCTAGCAAGCCA GAGTGTAGCAGAGTGTCTCTGCTCCCGTTTTCCTGCCTCACCCACCTTGTCTGTGTCTTCCAGGGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAGGTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCA mutant NA NA NA NA NA 312 147 1 1 1 0.8875612 0.984054 0.9980041 0.8178891 NA NA 0.001995937 0.1821109 0.9358076 0.9079466 NA 0.0920534 NA FALSE NA 0 -0.536 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114196043 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00001730673 intron_variant -0.027253 0.17581 0.01932 0.084033 0.5594213 0.0715842 0.9999994 TRUE 2.44435e-05 ENSE00001731240_000 ENSE00001731240 000 10 61965520 61965689 - 30 99 41 NA NA NA NA NA AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATACATATACCTGCTTGACTACATTCCA 60205761 60205931 NA NA NA NA NA NA TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT natural 36 78 0.9870009 0.9912649 0.9891329 2937 1772 0.9714251 0.8573009 0.914363 0.9870009 0.9912649 0.9714251 0.8573009 0 0 0 0 0.9891329 0.914363 0 0 0 FALSE FALSE NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003344568 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001731240_001 ENSE00001731240 001 10 61965520 61965689 - 30 99 41 C T 61965540 1020 150 AGGACTCCCAGAAATCTTAATTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATACATATACCTGCTTGACTACATTCCA 60205761 60205931 60205781 60205782 60205782 downstr_intron 10 1.344828 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAATTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 226 318 0.9746462 1 0.9873231 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.003221102 0.1426991 0.9891329 0.914363 NA 0.07296011 NA FALSE NA 0 -0.153 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 12/43 1 NA ACT C,T 8.236e-06 10:60205782 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 intron_variant 2.188245 0.26663 0.04795 0.053691 0.8428914 0.133507 1 TRUE 4.06359e-06 ENSE00001731240_002 ENSE00001731240 002 10 61965520 61965689 - 30 99 41 T G 61965543 1021 147 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGACGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205784 60205785 60205785 downstr_intron 7 1.241379 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGACGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 622 657 0.9993365 0.9987078 0.9990221 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.02791139 0.1414069 0.9891329 0.914363 NA 0.08465914 NA FALSE NA 0 -0.768 . splice_region_variant&intron_variant LOW ANK3 HGNC 494 ENST00000373827 12/43 1 NA CTT T,G 8.236e-06 10:60205785 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 splice_region_variant 1.129266 0.26355 0.06954 0.053691 0.7769167 0.147048 1 TRUE 8.12526e-06 ENSE00001731240_003 ENSE00001731240 003 10 61965520 61965689 - 30 99 41 G C 61965553 1022 137 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCCGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATACATATACCTGCTTGACTACATTCCA 60205761 60205931 60205794 60205795 60205795 exon -4 0.969697 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACGGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 797 107 0.9961319 1 0.998066 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.02470685 0.1426991 0.9891329 0.914363 NA 0.08370298 NA FALSE NA 0.755 -0.229 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:60205795 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 synonymous_variant 1.377944 0.93804 0.53094 0.706298 0.6690353 0 1 TRUE 0.00078806 ENSE00001731240_004 ENSE00001731240 004 10 61965520 61965689 - 30 99 41 G A 61965553 1023 137 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACTGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205794 60205795 60205795 exon -4 0.969697 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACTGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 392 180 0.9967508 1 0.9983754 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.02532565 0.1426991 0.9891329 0.914363 NA 0.08401239 NA FALSE NA 0.755 -0.229 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003344568 synonymous_variant 1.870571 0.92958 0.39426 0.706298 0.6160599 0 1 TRUE 1.62487e-05 ENSE00001731240_006 ENSE00001731240 006 10 61965520 61965689 - 30 99 41 A C 61965559 1025 131 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACCGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATACATATACCTGCTTGACTACATTCCA 60205761 60205931 60205800 60205801 60205801 exon -10 0.9090909 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCGGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 649 13 0.9984039 1 0.9992019 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.02697877 0.1426991 0.9891329 0.914363 NA 0.08483894 NA FALSE NA 0.018 -0.698 NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:60205801 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 synonymous_variant -0.253855 0.91527 0.30941 0.706298 0.7881194 0 1 TRUE 4.06194e-06 ENSE00001731240_007 ENSE00001731240 007 10 61965520 61965689 - 30 99 41 T C 61965563 1026 127 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCGAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205804 60205805 60205805 exon -14 0.8686869 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCGAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 149 639 1 0.9999404 0.9999702 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.0285749 0.1426395 0.9891329 0.914363 NA 0.08560722 NA FALSE NA 1 6.097 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 12/44 1 deleterious_low_confidence(0) benign(0.002) NA TTG T,C 8.236e-06 10:60205805 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 missense_variant 3.675108 0.9603 0.938 0.706298 0.9910311 0 1 TRUE 4.06174e-06 ENSE00001731240_010 ENSE00001731240 010 10 61965520 61965689 - 30 99 41 G A 61965577 1029 113 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACATGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205818 60205819 60205819 exon -28 0.7272727 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACATGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 40 44 1 1 1 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.0285749 0.1426991 0.9891329 0.914363 NA 0.08563701 NA FALSE NA 0.031 -0.465 rs2297978 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 12/44 rs2297978 1 A:0.0224 A:0.0008 A:0 NA A:0.0972 A:0 A:0.0133 A:0.0011 A:0.0001 CGT G,A 0.007808 10:60205819 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 synonymous_variant 1.195583 0.91541 0.23313 0.706298 0.6451188 0 1 TRUE 0.00751409 ENSE00001731240_011 ENSE00001731240 011 10 61965520 61965689 - 30 99 41 T A 61965578 1030 112 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACTCGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205819 60205820 60205820 exon -29 0.7171717 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACTCGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant 33 19 0.8332094 0.85 0.8416047 463 678 0.9286719 0.9496933 0.9391826 0.9870009 0.9912649 0.9714251 0.8573009 -0.1537915 -0.1412649 -0.04275315 0.09239243 0.9891329 0.914363 -0.1475282 0.02481964 0.1723478 FALSE FALSE 1 6.136 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 12/44 1 deleterious_low_confidence(0) benign(0.001) NA GTG T,A 8.236e-06 10:60205820 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 missense_variant 6.251293 0.96665 0.94032 0.706298 0.9697456 0 1 TRUE 4.06147e-06 ENSE00001731240_012 ENSE00001731240 012 10 61965520 61965689 - 30 99 41 T C 61965597 1031 93 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAGTGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205838 60205839 60205839 exon -48 0.5252525 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAGTGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 190 2230 1 1 1 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.0285749 0.1426991 0.9891329 0.914363 NA 0.08563701 NA FALSE NA 1 7.871 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 12/44 1 tolerated_low_confidence(0.13) benign(0.001) NA ATT T,C 8.236e-06 10:60205839 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 missense_variant 3.72496 0.97494 0.95326 0.706298 0.9264899 0 1 TRUE 4.06141e-06 ENSE00001731240_013 ENSE00001731240 013 10 61965520 61965689 - 30 99 41 T C 61965598 1032 92 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTGATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205839 60205840 60205840 exon -49 0.5151515 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTGATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 32 1003 0.9849374 0.9346465 0.959792 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.01351235 0.07734564 0.9891329 0.914363 NA 0.04542899 NA FALSE NA 0 -3.699 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 12/44 1 NA TTA T,C 8.236e-06 10:60205840 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 synonymous_variant 0.622266 0.38539 0.08098 0.706298 0.6791766 0 1 TRUE 1.2184e-05 ENSE00001731240_014 ENSE00001731240 014 10 61965520 61965689 - 30 99 41 A G 61965605 1033 85 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAGTTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATACATATACCTGCTTGACTACATTCCA 60205761 60205931 60205846 60205847 60205847 exon 44 0.4444444 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAACTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 484 27 0.9593573 1 0.9796787 0.9870009 0.9912649 0.9714251 0.8573009 NA NA -0.01206779 0.1426991 0.9891329 0.914363 NA 0.06531566 NA FALSE NA 1 6.116 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 12/44 rs367673751 1 deleterious_low_confidence(0) benign(0.023) NA G:0 G:0.0001 AAT A,G 8.236e-06 10:60205847 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 missense_variant 6.082392 0.97628 0.94786 0.706298 0.9939806 0 1 TRUE 4.06164e-06 ENSE00001731240_015 ENSE00001731240 015 10 61965520 61965689 - 30 99 41 C T 61965616 1034 74 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTTTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATACATATACCTGCTTGACTACATTCCA 60205761 60205931 60205857 60205858 60205858 exon 33 0.3333333 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAAAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant 79 196 0.85 0.85 0.85 72 657 0.938103 0.9807323 0.9594177 0.9870009 0.9912649 0.9714251 0.8573009 -0.1370009 -0.1412649 -0.03332208 0.1234314 0.9891329 0.914363 -0.1391329 0.04505467 0.1841876 FALSE FALSE 1 3.2 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 12/44 1 NA TCT C,T 8.236e-06 10:60205858 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 synonymous_variant 2.015815 0.95141 0.83281 0.706298 0.6619686 0 1 TRUE 4.06223e-06 ENSE00001731240_016 ENSE00001731240 016 10 61965520 61965689 - 30 99 41 A G 61965625 1035 65 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCGATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATACATATACCTGCTTGACTACATTCCA 60205761 60205931 60205866 60205867 60205867 exon 24 0.2424242 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATCGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 148 276 1 1 1 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.0285749 0.1426991 0.9891329 0.914363 NA 0.08563701 NA FALSE NA 0.281 -0.428 rs2297979 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 12/44 rs2297979&COSM146942 1 G:0.1516 G:0.1785 G:0.1398 NA G:0.0655 G:0.1879 G:0.1748 G:0.1931 G:0.1759 CAA A,G 0.159 10:60205867 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 synonymous_variant 0.982662 0.78705 0.15739 0.615465 0.7254892 0 1 TRUE 0.158619 ENSE00001731240_017 ENSE00001731240 017 10 61965520 61965689 - 30 99 41 T C 61965627 1036 63 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATGTTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205868 60205869 60205869 exon 22 0.2222222 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATGTTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 2152 546 0.9673784 1 0.9836892 0.9870009 0.9912649 0.9714251 0.8573009 NA NA -0.004046719 0.1426991 0.9891329 0.914363 NA 0.0693262 NA FALSE NA 1 7.871 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 12/44 1 deleterious_low_confidence(0.04) benign(0.002) NA ATA T,C 8.236e-06 10:60205869 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 missense_variant 5.532946 0.97464 0.9533 0.615465 0.9989931 0 1 TRUE 8.12592e-06 ENSE00001731240_018 ENSE00001731240 018 10 61965520 61965689 - 30 99 41 G A 61965633 1037 57 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTTTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205874 60205875 60205875 exon 16 0.1616162 TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTTTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 1907 145 0.9842875 0.9989077 0.9915976 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.01286244 0.1416068 0.9891329 0.914363 NA 0.07723464 NA FALSE NA 1 9.661 . missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 12/44 1 deleterious_low_confidence(0.02) benign(0.02) NA AGA G,A 8.237e-06 10:60205875 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 missense_variant 6.774115 0.98027 0.97031 0.615465 0.9990473 0 1 TRUE 4.06339e-06 ENSE00001731240_020 ENSE00001731240 020 10 61965520 61965689 - 30 99 41 G A 61965657 1039 33 TGGAATGTAGTCAAGCAGGTATATGTATTTGTTCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205898 60205899 60205899 upstr_intron -9 -0.195122 TGGAATGTAGTCAAGCAGGTATATGTATTTGTTCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant 48 15 0.85 0.85 0.85 250 418 1 0.9975033 0.9987516 0.9870009 0.9912649 0.9714251 0.8573009 -0.1370009 -0.1412649 0.0285749 0.1402024 0.9891329 0.914363 -0.1391329 0.08438865 0.2235215 FALSE FALSE 0.009 -0.01 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 11/43 1 NA GGA G,A 8.237e-06 10:60205899 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 intron_variant 1.22485 0.27501 0.04923 0.053691 0.5921283 0.317009 1 TRUE 4.06987e-06 ENSE00001731240_021 ENSE00001731240 021 10 61965520 61965689 - 30 99 41 A G 61965658 1040 32 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGGCAAATACATATACCTGCTTGACTACATTCCA 60205761 60205931 60205899 60205900 60205900 upstr_intron -10 -0.2195122 TGGAATGTAGTCAAGCAGGTATATGTATTTGCCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant 217 147 0.8618373 0.8753348 0.868586 1822 484 0.9801742 0.9598201 0.9699972 0.9870009 0.9912649 0.9714251 0.8573009 -0.1251636 -0.1159301 0.008749137 0.1025192 0.9891329 0.914363 -0.1205469 0.05563418 0.176181 FALSE FALSE 0.109 2.279 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 11/43 1 NA GAC A,G 8.237e-06 10:60205900 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 intron_variant 1.23143 0.28972 0.38253 0.053691 0.7857384 0.317009 1 TRUE NA ENSE00001731240_022 ENSE00001731240 022 10 61965520 61965689 - 30 99 41 A G 61965664 1041 26 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATGCATATACCTGCTTGACTACATTCCA 60205761 60205931 60205905 60205906 60205906 upstr_intron -16 -0.3658537 TGGAATGTAGTCAAGCAGGTATATGCATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 560 978 0.9442379 0.9999611 0.9720995 0.9870009 0.9912649 0.9714251 0.8573009 NA NA -0.02718723 0.1426602 0.9891329 0.914363 NA 0.05773648 NA FALSE NA 0 -0.635 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 11/43 1 NA TAC A,G 8.237e-06 10:60205906 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 intron_variant -0.015021 0.2804 0.11031 0.053691 0.5480728 0.0840408 1 TRUE 4.07541e-06 ENSE00001731240_023 ENSE00001731240 023 10 61965520 61965689 - 30 99 41 C T 61965665 1042 25 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATATATATACCTGCTTGACTACATTCCA 60205761 60205931 60205906 60205907 60205907 upstr_intron -17 -0.3902439 TGGAATGTAGTCAAGCAGGTATATATATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 2033 452 0.9971723 0.9988639 0.9980181 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.02574716 0.1415631 0.9891329 0.914363 NA 0.08365511 NA FALSE NA 0 -0.097 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 11/43 1 NA ACA C,T 8.238e-06 10:60205907 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 intron_variant -0.14113 0.30846 0.05451 0.053691 0.3446369 0.0448682 1 TRUE 4.08103e-06 ENSE00001731240_024 ENSE00001731240 024 10 61965520 61965689 - 30 99 41 A G 61965666 1043 24 AGGACTCCCAGAAATCTTAACTCTTCTCACCTCGGTTACAGCTTGGATGGATGCACCGTGTTTCAGAAGGAGTTCCATTACTTTAATTCGATTCTTCTTGCAGGCAATATGAAGAGGGGTAAAGCCATTCTGCAAGGGACAAATACGTATACCTGCTTGACTACATTCCA 60205761 60205931 60205907 60205908 60205908 upstr_intron -18 -0.4146341 TGGAATGTAGTCAAGCAGGTATACGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 263 35 0.9994168 1 0.9997084 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.02799173 0.1426991 0.9891329 0.914363 NA 0.08534542 NA FALSE NA 0 1.094 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 11/43 1 NA CAT A,G 8.238e-06 10:60205908 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 intron_variant -0.241726 0.34802 0.08462 0.053691 0.552524 0.0448682 1 TRUE 4.08267e-06 ENSE00001731240_025 ENSE00001731240 025 10 61965520 61965689 - 30 99 41 C A 61965671 1044 19 TGGAATGTAGTCAAGCAGTTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205912 60205913 60205913 upstr_intron -23 -0.5365854 TGGAATGTAGTCAAGCAGTTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant NA NA NA NA NA 879 391 0.9976767 0.9907399 0.9942083 0.9870009 0.9912649 0.9714251 0.8573009 NA NA 0.02625163 0.133439 0.9891329 0.914363 NA 0.07984531 NA FALSE NA 0 -1.338 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 11/43 1 NA ACC C,A 6.59e-05 10:60205913 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 intron_variant 0.271193 0.24978 0.0789 0.065574 0.5628821 0.0591926 1 TRUE 4.09209e-05 ENSE00001731240_026 ENSE00001731240 026 10 61965520 61965689 - 30 99 41 T C 61965676 1045 14 TGGAATGTAGTCAGGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 60205917 60205918 60205918 upstr_intron -28 -0.6585366 TGGAATGTAGTCAGGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT mutant 45 42 0.85 0.85 0.85 NA NA NA NA NA 0.9870009 0.9912649 0.9714251 0.8573009 -0.1370009 -0.1412649 NA NA 0.9891329 0.914363 -0.1391329 NA NA NA FALSE 0 -0.053 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 11/43 1 NA CTT T,C 8.238e-06 10:60205918 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00003344568 intron_variant 0.735746 0.23464 0.15727 0.065574 0.7828088 0.0591926 1 TRUE 8.2354e-06 ENSE00001731240_BRK ENSE00001731240 BRK 10 61965520 61965689 - 30 99 41 A,G; T,T NA NA NA TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCTTAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGCCGAGAAGAGTTAAGATTTCTGGGAGTCCT 60205761 60205931 NA NA NA NA NA NA TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCTTAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGCCGAGAAGAGTTAAGATTTCTGGGAGTCCT TGGAATGTAGTCAAGCAGGTATATGTATTTGTCCCTTGCAGAATGGCTTTACCCCTCTTCATATTGCCTGCAAGAAGAATCGAATTAAAGTAATGGAACTCCTTCTGAAACACGGTGCATCCATCCAAGCTGTAACCGAGGTGAGAAGAGTTAAGATTTCTGGGAGTCCT control 50 50 0 0 0 NA NA NA NA NA 0.9870009 0.9912649 0.9714251 0.8573009 -0.9870009 -0.9912649 NA NA 0.9891329 0.914363 -0.9891329 NA NA NA TRUE NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00003344568 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001731509_000 ENSE00001731509 000 10 99229844 99230013 - 42 75 53 NA NA NA NA NA TGTGACTGACACACCACCCATCTCAGGCTTAAGATCTTCCTTCTGTCCCACAGTTTCTGCTGCCCCTGTTGATTGAGAAAGTGGATTCTGAGGTTCTGAGTGCCAAGTTGGATTCTCTACAGACTCTGGTGAGTGATTTTTCTCCTTGCAGGACCCAGCTACCTTTTGAC 97470086 97470256 NA NA NA NA NA NA TGTGACTGACACACCACCCATCTCAGGCTTAAGATCTTCCTTCTGTCCCACAGTTTCTGCTGCCCCTGTTGATTGAGAAAGTGGATTCTGAGGTTCTGAGTGCCAAGTTGGATTCTCTACAGACTCTGGTGAGTGATTTTTCTCCTTGCAGGACCCAGCTACCTTTTGAC TGTGACTGACACACCACCCATCTCAGGCTTAAGATCTTCCTTCTGTCCCACAGTTTCTGCTGCCCCTGTTGATTGAGAAAGTGGATTCTGAGGTTCTGAGTGCCAAGTTGGATTCTCTACAGACTCTGGTGAGTGATTTTTCTCCTTGCAGGACCCAGCTACCTTTTGAC natural 35 26 0.9692394 0.9636083 0.9664239 1210 945 0.9922998 0.9599187 0.9761093 0.9692394 0.9636083 0.9922998 0.9599187 0 0 0 0 0.9664239 0.9761093 0 0 0 FALSE FALSE NA NA NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003690714 NA NA NA NA NA NA NA 0.831822 FALSE NA ENSE00001731509_001 ENSE00001731509 001 10 99229844 99230013 - 42 75 53 C A 99229856 2202 158 TGTGACTGACACACCACCCATCTCAGGCTTAAGATCTTCCTTCTGTCCCACAGTTTCTGCTGCCCCTGTTGATTGAGAAAGTGGATTCTGAGGTTCTGAGTGCCAAGTTGGATTCTCTACAGACTCTGGTGAGTGATTTTTCTCCTTGCAGGACCCATCTACCTTTTGAC 97470086 97470256 97470098 97470099 97470099 downstr_intron 30 1.731707 TGTGACTGACACACCACCCATCTCAGGCTTAAGATCTTCCTTCTGTCCCACAGTTTCTGCTGCCCCTGTTGATTGAGAAAGTGGATTCTGAGGTTCTGAGTGCCAAGTTGGATTCTCTACAGACTCTGGTGAGTGATTTTTCTCCTTGCAGGACCCATCTACCTTTTGAC TGTGACTGACACACCACCCATCTCAGGCTTAAGATCTTCCTTCTGTCCCACAGTTTCTGCTGCCCCTGTTGATTGAGAAAGTGGATTCTGAGGTTCTGAGTGCCAAGTTGGATTCTCTACAGACTCTGGTGAGTGATTTTTCTCCTTGCAGGACCCAGCTACCTTTTGAC mutant 12 19 0.9053575 0.8810912 0.8932244 NA NA NA NA NA 0.9692394 0.9636083 0.9922998 0.9599187 -0.0638819 -0.08251711 NA NA 0.9664239 0.9761093 -0.0731995 NA NA NA FALSE 0 -0.77 . intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 9/29 rs554848922 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 GCT C,A 1.649e-05 10:97470099 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003690714 intron_variant 0.223243 0.18213 0.11186 0.256867 0.551176 0.156438 0.831822 FALSE NA ENSE00001732007_000 ENSE00001732007 000 8 118825076 118825245 - 35 90 45 NA NA NA NA NA CTTTCCCTCATTCCCTCCCCACTGCCTACTTCTACTTCCTCCCAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTAAGAACCCATGCCTGAGGAGCAGCAGGTGGGCT 117812836 117813006 NA NA NA NA NA NA CTTTCCCTCATTCCCTCCCCACTGCCTACTTCTACTTCCTCCCAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTAAGAACCCATGCCTGAGGAGCAGCAGGTGGGCT CTTTCCCTCATTCCCTCCCCACTGCCTACTTCTACTTCCTCCCAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTAAGAACCCATGCCTGAGGAGCAGCAGGTGGGCT natural 49 21 0.9981982 0.9912163 0.9947072 412 42 0.9939267 1 0.9969633 0.9981982 0.9912163 0.9939267 1 0 0 0 0 0.9947072 0.9969633 0 0 0 FALSE FALSE NA NA NA NA NA EXT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXT1 NA NA NA ENSG00000182197 ENSE00003465486 NA NA NA NA NA NA NA 0.9993205 TRUE NA ENSE00001732007_017 ENSE00001732007 017 8 118825076 118825245 - 35 90 45 G C 118825177 1826 69 CTTTCCCTCATTCCCTCCCCACTGCCTACTTCTACTTCCTCCCAGGTTATGAGCAGCCGTTTTCTGCCGTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTAAGAACCCATGCCTGAGGAGCAGCAGGTGGGCT 117812836 117813006 117812937 117812938 117812938 exon 24 0.2666667 CTTTCCCTCATTCCCTCCCCACTGCCTACTTCTACTTCCTCCCAGGTTATGAGCAGCCGTTTTCTGCCGTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTAAGAACCCATGCCTGAGGAGCAGCAGGTGGGCT CTTTCCCTCATTCCCTCCCCACTGCCTACTTCTACTTCCTCCCAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCCGTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTAAGAACCCATGCCTGAGGAGCAGCAGGTGGGCT mutant NA NA NA NA NA 1043 36 0.9552536 1 0.9776268 0.9981982 0.9912163 0.9939267 1 NA NA -0.03867311 0 0.9947072 0.9969633 NA -0.01933655 NA FALSE NA 1 0.954 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EXT1 HGNC 3512 ENST00000437196 7/10 1 NA AGG G,C 8.236e-06 8:117812938 EXT1 HGNC Symbol protein_coding 317363 ENSG00000182197 ENSE00003465486 synonymous_variant 1.063917 0.97852 0.91842 0.741868 0.7015511 0 0.9993205 TRUE 4.07355e-06 ENSE00001732033_000 ENSE00001732033 000 22 21165208 21165377 - 47 66 57 NA NA NA NA NA TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 NA NA NA NA NA NA TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC natural NA NA NA NA NA 1101 1807 0.9982656 0.9498264 0.974046 NA NA 0.9982656 0.9498264 NA NA 0 0 NA 0.974046 NA 0 NA FALSE NA NA NA NA NA NA PI4KA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PI4KA NA NA NA ENSG00000241973 ENSE00003534742 NA NA NA NA NA NA NA 0.0008040734 FALSE NA ENSE00001732033_003 ENSE00001732033 003 22 21165208 21165377 - 47 66 57 G C 21165236 175 142 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGGATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20810947 20810948 20810948 downstr_intron 19 1.413043 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGGATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 118 1423 0.9828251 0.9991936 0.9910094 NA NA 0.9982656 0.9498264 NA NA -0.01544052 0.0493672 NA 0.974046 NA 0.01696334 NA FALSE NA 0 0.062 . intron_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 9/16 1 NA TGC G,C 8.236e-06 22:20810948 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 intron_variant -0.091532 0.17132 0.08021 0.295142 0.3764329 0.0802269 0.0008040734 FALSE 4.06326e-06 ENSE00001732033_005 ENSE00001732033 005 22 21165208 21165377 - 47 66 57 C A 21165237 177 141 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGTCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20810948 20810949 20810949 downstr_intron 18 1.391304 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGTCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 1642 497 0.9989931 0.9972661 0.9981296 NA NA 0.9982656 0.9498264 NA NA 0.0007275422 0.04743973 NA 0.974046 NA 0.02408364 NA FALSE NA 0 -0.42 NA NA NA PI4KA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:20810949 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 intron_variant 0.378566 0.19711 0.04484 0.295142 0.4813344 0.0802269 0.0008040734 FALSE 8.12797e-06 ENSE00001732033_007 ENSE00001732033 007 22 21165208 21165377 - 47 66 57 T G 21165240 179 138 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGCGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20810951 20810952 20810952 downstr_intron 15 1.326087 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGCGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 566 114 0.9777755 1 0.9888878 NA NA 0.9982656 0.9498264 NA NA -0.02049007 0.05017358 NA 0.974046 NA 0.01484176 NA FALSE NA 0.001 0.877 . intron_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 9/16 1 NA CTC T,G 8.236e-06 22:20810952 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 intron_variant 0.347307 0.44819 0.1782 0.295142 0.5048368 0.0802269 0.0008040734 FALSE 4.06256e-06 ENSE00001732033_008 ENSE00001732033 008 22 21165208 21165377 - 47 66 57 A C 21165242 180 136 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCGGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20810953 20810954 20810954 downstr_intron 13 1.282609 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCGGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 248 588 1 1 1 NA NA 0.9982656 0.9498264 NA NA 0.001734397 0.05017358 NA 0.974046 NA 0.02595399 NA FALSE NA 0.001 1.01 . intron_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 9/16 1 NA CAG A,C 8.236e-06 22:20810954 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 intron_variant 0.043118 0.23585 0.05801 0.295142 0.4786887 0.0802756 0.0008040734 FALSE 1.62493e-05 ENSE00001732033_010 ENSE00001732033 010 22 21165208 21165377 - 47 66 57 G A 21165248 182 130 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTTGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20810959 20810960 20810960 downstr_intron 7 1.152174 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTTGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 2244 59 0.9681288 0.9642475 0.9661882 NA NA 0.9982656 0.9498264 NA NA -0.03013677 0.01442108 NA 0.974046 NA -0.007857849 NA FALSE NA 0.002 0.021 rs193188546 splice_region_variant&intron_variant&non_coding_transcript_variant LOW PI4KA HGNC 8983 ENST00000485963 9/16 rs193188546 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 4.942e-05 22:20810960 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 splice_region_variant 0.146155 0.12561 0.01379 0.295142 0.4220269 0.0802756 0.0008040734 FALSE 2.43718e-05 ENSE00001732033_011 ENSE00001732033 011 22 21165208 21165377 - 47 66 57 C T 21165254 183 124 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGATATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20810965 20810966 20810966 downstr_intron 1 1.021739 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGATATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 33 17 0.1478575 0 0.07392876 NA NA 0.9982656 0.9498264 NA NA -0.8504081 -0.9498264 NA 0.974046 NA -0.9001172 NA TRUE NA 1 7.198 . splice_donor_variant&non_coding_transcript_variant HIGH PI4KA HGNC 8983 ENST00000485963 9/16 rs373711425 1 NA T:0.0002 T:0 ACC C,T 8.236e-06 22:20810966 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 splice_donor_variant 5.739016 0.99319 0.99272 0.295142 0.9955926 0.988238 0.0008040734 FALSE 8.12236e-06 ENSE00001732033_012 ENSE00001732033 012 22 21165208 21165377 - 47 66 57 C T 21165263 184 115 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTATGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20810974 20810975 20810975 exon -9 0.8787879 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTATGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 37 719 0.9988824 0.9851254 0.9920039 NA NA 0.9982656 0.9498264 NA NA 0.0006168029 0.03529903 NA 0.974046 NA 0.01795792 NA FALSE NA 0.997 3.59 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 9/17 1 NA ACA C,T 8.236e-06 22:20810975 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 missense_variant 4.220066 0.97783 0.97065 0.706298 0.9952115 0 0.0008040734 FALSE 4.06111e-06 ENSE00001732033_015 ENSE00001732033 015 22 21165208 21165377 - 47 66 57 G A 21165293 187 85 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTTTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20811004 20811005 20811005 exon 28 0.4242424 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTTTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 73 143 1 1 1 NA NA 0.9982656 0.9498264 NA NA 0.001734397 0.05017358 NA 0.974046 NA 0.02595399 NA FALSE NA 1 4.744 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 9/17 1 NA AGA G,A 8.236e-06 22:20811005 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 missense_variant 5.086789 0.98326 0.96203 0.706298 0.9989289 0 0.0008040734 FALSE NA ENSE00001732033_018 ENSE00001732033 018 22 21165208 21165377 - 47 66 57 G A 21165309 190 69 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATTGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20811020 20811021 20811021 exon 12 0.1818182 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATTGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 37 467 1 0.9996612 0.9998306 NA NA 0.9982656 0.9498264 NA NA 0.001734397 0.04983478 NA 0.974046 NA 0.02578459 NA FALSE NA 0.001 -1.387 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 9/17 rs367740578&COSM3308433&COSM3308434 1 NA A:0 A:0.0001 CGA G,A 2.471e-05 22:20811021 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 synonymous_variant 2.096888 0.70463 0.03608 0.706298 0.8300373 0 0.0008040734 FALSE 1.62452e-05 ENSE00001732033_021 ENSE00001732033 021 22 21165208 21165377 - 47 66 57 C A 21165315 193 63 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAATAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20811026 20811027 20811027 exon 6 0.09090909 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAATAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 1228 213 0.9489741 0.9515967 0.9502854 NA NA 0.9982656 0.9498264 NA NA -0.04929148 0.001770311 NA 0.974046 NA -0.02376058 NA FALSE NA 1 0.918 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 9/17 1 NA TCT C,A 1.647e-05 22:20811027 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 missense_variant 6.789715 0.97742 0.9485 0.706298 0.9977588 0 0.0008040734 FALSE 8.12209e-06 ENSE00001732033_022 ENSE00001732033 022 22 21165208 21165377 - 47 66 57 C T 21165339 194 39 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAAGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20811050 20811051 20811051 upstr_intron -19 -0.3157895 TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAAGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 83 120 1 0.9508744 0.9754372 NA NA 0.9982656 0.9498264 NA NA 0.001734397 0.001047952 NA 0.974046 NA 0.001391175 NA FALSE NA 0 0.1 . intron_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 8/16 rs374067722 1 NA T:0.0002 T:0.0002 CCT C,T 8.236e-06 22:20811051 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 intron_variant 1.98963 0.21907 0.02083 0.099367 0.7463186 0.328367 0.0008040734 FALSE 2.84356e-05 ENSE00001732033_024 ENSE00001732033 024 22 21165208 21165377 - 47 66 57 C T 21165355 196 23 TAGCATTCCTGTCTCTGTGTATATCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC 20810919 20811089 20811066 20811067 20811067 upstr_intron -35 -0.5964912 TAGCATTCCTGTCTCTGTGTATATCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC TAGCATTCCTGTCTCTGTGTATGTCAGTTGCTTCATGAGGTTCTGTTTCCTTGGTAGGTGAAGAAGATCGTTGAGGAGGCTGTTCTCAAATCTTTGGATGCCATTGTAGCCAGTGTGATGGAGGTATGTCGCTTCTGAGGGCATTACCATGAGATCAGCCTGACTTAAAC mutant NA NA NA NA NA 602 337 1 1 1 NA NA 0.9982656 0.9498264 NA NA 0.001734397 0.05017358 NA 0.974046 NA 0.02595399 NA FALSE NA 0 -1.081 . intron_variant&non_coding_transcript_variant MODIFIER PI4KA HGNC 8983 ENST00000485963 8/16 1 NA ACA C,T 8.236e-06 22:20811067 PI4KA HGNC Symbol protein_coding 151726 ENSG00000241973 ENSE00003534742 intron_variant 1.118066 0.22466 0.02873 0.099367 0.7664224 0.202006 0.0008040734 FALSE 4.06759e-06 ENSE00001732155_000 ENSE00001732155 000 1 212529903 212530072 + 65 51 54 NA NA NA NA NA GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 NA NA NA NA NA NA GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG natural 134 109 0.9972412 0.9927523 0.9949968 13903 11959 0.9735547 0.938973 0.9562638 0.9972412 0.9927523 0.9735547 0.938973 0 0 0 0 0.9949968 0.9562638 0 0 0 FALSE FALSE NA NA NA NA NA SNORA16B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP2R5A NA NA NA ENSG00000066027 ENSE00003700781 NA NA NA NA NA NA NA 0.8995204 FALSE NA ENSE00001732155_001 ENSE00001732155 001 1 212529903 212530072 + 65 51 54 T C 212529935 5036 33 GGAAAATACGCTGGGATTAACTAGCTTTGTTACTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356592 212356593 212356593 upstr_intron -33 -0.4923077 GGAAAATACGCTGGGATTAACTAGCTTTGTTACTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant 29 10 0.997022 0.9987467 0.9978843 443 2213 0.99477 0.9667568 0.9807634 0.9972412 0.9927523 0.9735547 0.938973 -0.0002192044 0.005994347 0.02121531 0.02778384 0.9949968 0.9562638 0.002887571 0.02449957 0.021612 FALSE FALSE 0 -0.246 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 rs375938134 1 NA C:0.0007 C:0 ATT T,C 2.471e-05 1:212356593 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 intron_variant -0.036686 0.25228 0.0462 0.295142 0.3953612 0.0682425 0.8995204 FALSE 2.13183e-05 ENSE00001732155_002 ENSE00001732155 002 1 212529903 212530072 + 65 51 54 T A 212529956 5037 54 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTACTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356613 212356614 212356614 upstr_intron -12 -0.1692308 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTACTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant 16 17 0.9287986 0.9623113 0.9455549 3774 2092 0.9543393 0.8803449 0.9173421 0.9972412 0.9927523 0.9735547 0.938973 -0.06844267 -0.03044108 -0.01921537 -0.05862805 0.9949968 0.9562638 -0.04944187 -0.03892171 0.01052016 FALSE FALSE 0 0.127 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 1 NA TTC T,A 8.238e-06 1:212356614 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 intron_variant 0.408378 0.29851 0.30407 0.295142 0.7144396 0.2288 0.8995204 FALSE 4.14883e-06 ENSE00001732155_004 ENSE00001732155 004 1 212529903 212530072 + 65 51 54 T C 212529962 5039 60 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTCCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356619 212356620 212356620 upstr_intron -6 -0.07692308 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTCCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 934 1061 0.9941908 0.9970749 0.9956328 0.9972412 0.9927523 0.9735547 0.938973 NA NA 0.02063614 0.05810194 0.9949968 0.9562638 NA 0.03936904 NA FALSE NA 0 0.028 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 1 NA TTC T,C 6.589e-05 1:212356620 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 splice_region_variant 0.080072 0.26438 0.12493 0.295142 0.7049503 0.251103 0.8995204 FALSE 0.000121257 ENSE00001732155_005 ENSE00001732155 005 1 212529903 212530072 + 65 51 54 C T 212529963 5040 61 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTTGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356620 212356621 212356621 upstr_intron -5 -0.06153846 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTTGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant 23 16 0.9901546 0.9988423 0.9944985 148 1228 1 0.9983899 0.999195 0.9972412 0.9927523 0.9735547 0.938973 -0.007086643 0.006090012 0.02644535 0.05941696 0.9949968 0.9562638 -0.0004983152 0.04293115 0.04342947 FALSE FALSE 0 0.263 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 rs374262161 1 NA T:0 T:0.0002 TCG C,T 0.0001318 1:212356621 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 splice_region_variant 0.72893 0.28639 0.00964 0.295142 0.6966046 0.259854 0.8995204 FALSE 0.000130524 ENSE00001732155_006 ENSE00001732155 006 1 212529903 212530072 + 65 51 54 G A 212529964 5041 62 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCACAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356621 212356622 212356622 upstr_intron -4 -0.04615385 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCACAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 1396 2138 0.9976807 0.9995869 0.9986338 0.9972412 0.9927523 0.9735547 0.938973 NA NA 0.02412607 0.06061396 0.9949968 0.9562638 NA 0.04237001 NA FALSE NA 0 -0.645 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 1 NA CGC G,A 0.0001647 1:212356622 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 splice_region_variant 0.343831 0.40359 0.075 0.295142 0.7657381 0.262255 0.8995204 FALSE 0.00021443 ENSE00001732155_007 ENSE00001732155 007 1 212529903 212530072 + 65 51 54 A G 212529974 5042 72 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCGGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356631 212356632 212356632 exon 7 0.1372549 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCGGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 1027 1249 0.9998508 0.879333 0.9395919 0.9972412 0.9927523 0.9735547 0.938973 NA NA 0.0262961 -0.05963991 0.9949968 0.9562638 NA -0.0166719 NA FALSE NA 1 2.936 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 1 NA CAG A,G 8.236e-06 1:212356632 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 missense_variant 3.209719 0.9838 0.95768 0.732398 0.9870859 0 0.8995204 FALSE 4.09219e-06 ENSE00001732155_008 ENSE00001732155 008 1 212529903 212530072 + 65 51 54 G A 212529985 5043 83 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTAAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356642 212356643 212356643 exon 18 0.3529412 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTAAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 962 1441 0.9978061 0.9271676 0.9624869 0.9972412 0.9927523 0.9735547 0.938973 NA NA 0.02425149 -0.01180534 0.9949968 0.9562638 NA 0.006223076 NA FALSE NA 1 0.972 rs137915136 downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 rs137915136 1 NA A:0 A:0.0001 TGA G,A 8.236e-06 1:212356643 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 synonymous_variant 1.276831 0.96765 0.88443 0.732398 0.8395867 0 0.8995204 FALSE 4.0866e-06 ENSE00001732155_009 ENSE00001732155 009 1 212529903 212530072 + 65 51 54 C T 212530002 5044 100 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAATCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356659 212356660 212356660 exon -17 0.6862745 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAATCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant 14 20 0.9941577 0.9927816 0.9934697 NA NA NA NA NA 0.9972412 0.9927523 0.9735547 0.938973 -0.003083506 2.929745e-05 NA NA 0.9949968 0.9562638 -0.001527104 NA NA NA FALSE 1 7.665 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 rs377097219 1 NA T:0 T:0.0001 ACC C,T 8.236e-06 1:212356660 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 missense_variant 5.541149 0.99438 0.99248 0.706548 0.998807 0 0.8995204 FALSE 4.0858e-06 ENSE00001732155_010 ENSE00001732155 010 1 212529903 212530072 + 65 51 54 A G 212530015 5045 113 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAGGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356672 212356673 212356673 exon -4 0.9411765 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAGGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 1961 1893 0.930371 0.926927 0.928649 0.9972412 0.9927523 0.9735547 0.938973 NA NA -0.0431837 -0.01204597 0.9949968 0.9562638 NA -0.02761484 NA FALSE NA 1 3.003 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 1 NA AAG A,G 8.236e-06 1:212356673 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 synonymous_variant 0.531234 0.97138 0.92305 0.706548 0.866839 0 0.8995204 FALSE 8.16727e-06 ENSE00001732155_011 ENSE00001732155 011 1 212529903 212530072 + 65 51 54 G A 212530019 5046 117 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGATGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356676 212356677 212356677 downstr_intron 1 1.018868 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGATGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant 47 36 0 0 0 270 135 0.08743313 0.2727506 0.1800919 0.9972412 0.9927523 0.9735547 0.938973 -0.9972412 -0.9927523 -0.8861215 -0.6662223 0.9949968 0.9562638 -0.9949968 -0.7761719 0.2188249 TRUE TRUE 1 9.42 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 COSM3483136 1 NA GGT G,A 8.237e-06 1:212356677 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 splice_donor_variant 5.951244 0.99408 0.99755 0.295142 0.9957161 0.986939 0.8995204 FALSE 4.08954e-06 ENSE00001732155_012 ENSE00001732155 012 1 212529903 212530072 + 65 51 54 G A 212530021 5047 119 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTAGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356678 212356679 212356679 downstr_intron 3 1.056604 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTAGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 396 661 0.999896 0.8911108 0.9455034 0.9972412 0.9927523 0.9735547 0.938973 NA NA 0.02634138 -0.04786219 0.9949968 0.9562638 NA -0.01076041 NA FALSE NA 0.085 0.012 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 rs369423719 1 NA A:0.0002 A:0 TGG G,A 1.647e-05 1:212356679 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 splice_region_variant 1.427362 0.22619 0.14639 0.099367 0.7536232 0.414096 0.8995204 FALSE 8.18123e-06 ENSE00001732155_013 ENSE00001732155 013 1 212529903 212530072 + 65 51 54 A C 212530032 5048 130 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCCCTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356689 212356690 212356690 downstr_intron 14 1.264151 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCCCTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 1594 1576 0.9988585 0.9985132 0.9986858 0.9972412 0.9927523 0.9735547 0.938973 NA NA 0.0253038 0.0595403 0.9949968 0.9562638 NA 0.04242205 NA FALSE NA 0.002 0.374 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 1 NA CAC A,C 8.237e-06 1:212356690 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 intron_variant 2.132646 0.2986 0.16337 0.099367 0.9096209 0.291737 0.8995204 FALSE 4.12028e-06 ENSE00001732155_014 ENSE00001732155 014 1 212529903 212530072 + 65 51 54 A C 212530036 5049 134 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTACATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356693 212356694 212356694 downstr_intron 18 1.339623 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTACATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 333 3441 0.949975 0.9994228 0.9746989 0.9972412 0.9927523 0.9735547 0.938973 NA NA -0.02357967 0.06044986 0.9949968 0.9562638 NA 0.01843509 NA FALSE NA 0.041 1.431 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 rs376753962 1 NA AAA A,C 8.237e-06 1:212356694 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 intron_variant 2.054031 0.41488 0.09103 0.099367 0.914842 0.291737 0.8995204 FALSE 4.12402e-06 ENSE00001732155_015 ENSE00001732155 015 1 212529903 212530072 + 65 51 54 G A 212530039 5050 137 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATATAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356696 212356697 212356697 downstr_intron 21 1.396226 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATATAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 46 926 0.9565395 0.9999589 0.9782492 0.9972412 0.9927523 0.9735547 0.938973 NA NA -0.01701515 0.06098594 0.9949968 0.9562638 NA 0.02198539 NA FALSE NA 0.001 -0.081 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 rs377125670 1 NA A:0 A:0.0001 TGT G,A 8.237e-06 1:212356697 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 intron_variant 2.183137 0.19885 0.02304 0.099367 0.828175 0.23938 0.8995204 FALSE 8.3042e-06 ENSE00001732155_017 ENSE00001732155 017 1 212529903 212530072 + 65 51 54 A T 212530046 5052 144 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCTTTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 212356703 212356704 212356704 downstr_intron 28 1.528302 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCTTTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 1183 1617 0.9984592 0.8308594 0.9146593 0.9972412 0.9927523 0.9735547 0.938973 NA NA 0.02490457 -0.1081135 0.9949968 0.9562638 NA -0.04160447 NA FALSE NA 0 0.902 NA NA NA SNORA16B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:212356704 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 intron_variant 1.063277 0.26027 0.20756 0.099367 0.8743549 0.115176 0.8995204 FALSE 4.25109e-06 ENSE00001732155_018 ENSE00001732155 018 1 212529903 212530072 + 65 51 54 C T 212530052 5053 150 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTATTAGAACTTGTCAATCCCAGG 212356560 212356730 212356709 212356710 212356710 downstr_intron 34 1.641509 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTATTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant 41 13 0.9949859 1 0.997493 1543 634 0.9857208 0.9886545 0.9871876 0.9972412 0.9927523 0.9735547 0.938973 -0.00225528 0.00724767 0.0121661 0.04968155 0.9949968 0.9562638 0.002496195 0.03092382 0.02842763 FALSE FALSE 0 -0.027 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 1 NA ACT C,T 0.0001153 1:212356710 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 intron_variant 0.245106 0.04927 0.00045 0.099367 0.7414922 0.115176 0.8995204 FALSE 7.71314e-05 ENSE00001732155_019 ENSE00001732155 019 1 212529903 212530072 + 65 51 54 T C 212530062 5054 160 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGCCAATCCCAGG 212356560 212356730 212356719 212356720 212356720 downstr_intron 44 1.830189 GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGCCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG mutant NA NA NA NA NA 2068 1212 0.9925811 0.9965023 0.9945417 0.9972412 0.9927523 0.9735547 0.938973 NA NA 0.01902647 0.05752932 0.9949968 0.9562638 NA 0.03827789 NA FALSE NA 0 -0.002 . downstream_gene_variant MODIFIER SNORA16B HGNC 32606 ENST00000364674 1 NA GTC T,C 8.237e-06 1:212356720 PPP2R5A HGNC Symbol protein_coding 76326 ENSG00000066027 ENSE00003700781 intron_variant 0.228328 0.27226 0.07624 0.099367 0.6183786 0.11614 0.8995204 FALSE NA ENSE00001732155_BRK ENSE00001732155 BRK 1 212529903 212530072 + 65 51 54 A,G; T,T NA NA NA GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCTTGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGCCGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG 212356560 212356730 NA NA NA NA NA NA GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCTTGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGCCGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG GGAAAATACGCTGGGATTAACTAGCTTTGTTATTAAATTCATGCTAAACTTTTTCTTTTTCGCAGGTGATCAGAGGACTGCTGAAATTTTGGCCAAAAACCTGCAGTCAGAAAGAGGTGGGTTTTGTTCACTAAATGTAGTGCATTTTACTAGAACTTGTCAATCCCAGG control 79 72 0 0 0 1336 604 0.01101851 0.005655649 0.008337081 0.9972412 0.9927523 0.9735547 0.938973 -0.9972412 -0.9927523 -0.9625361 -0.9333173 0.9949968 0.9562638 -0.9949968 -0.9479267 0.04707005 TRUE TRUE NA NA NA NA NA SNORA16B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP2R5A NA NA NA ENSG00000066027 ENSE00003700781 NA NA NA NA NA NA NA 0.8995204 FALSE NA ENSE00001732534_000 ENSE00001732534 000 11 63713270 63713439 + 42 96 32 NA NA NA NA NA GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 NA NA NA NA NA NA GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC natural 24 100 0.9944201 0.9093327 0.9518764 2100 2100 0.9727667 0.9536978 0.9632323 0.9944201 0.9093327 0.9727667 0.9536978 0 0 0 0 0.9518764 0.9632323 0 0 0 FALSE FALSE NA NA NA NA NA NAA40 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAA40 NA NA NA ENSG00000110583 ENSE00003614471 NA NA NA NA NA NA NA 0.005446684 FALSE NA ENSE00001732534_002 ENSE00001732534 002 11 63713270 63713439 + 42 96 32 C T 63713291 1615 22 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACATTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945818 63945819 63945819 upstr_intron -21 -0.4761905 GGCCACAGCCATTCCAGCTAATGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 342 467 0.9918344 1 0.9959172 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.01906764 0.04630219 0.9518764 0.9632323 NA 0.03268492 NA FALSE NA 0 0.195 . intron_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 1/7 1 NA ACG C,T 5.765e-05 11:63945819 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 intron_variant 0.206595 0.2808 0.01894 0 0.6380479 0.0876246 0.005446684 FALSE 4.46704e-05 ENSE00001732534_003 ENSE00001732534 003 11 63713270 63713439 + 42 96 32 G A 63713292 1616 23 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAATGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945819 63945820 63945820 upstr_intron -20 -0.452381 GGCCACAGCCATTCCAGCTAACATTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 1866 451 0.9994439 0.9952699 0.9973569 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02667719 0.0415721 0.9518764 0.9632323 NA 0.03412464 NA FALSE NA 0 -1.765 . intron_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 1/7 rs374355290 1 NA A:0.0002 A:0 CGT G,A 4.118e-05 11:63945820 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 intron_variant 0.484156 0.30983 0.02207 0 0.597441 0.0876246 0.005446684 FALSE 4.06121e-05 ENSE00001732534_004 ENSE00001732534 004 11 63713270 63713439 + 42 96 32 C T 63713296 1617 27 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAACAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945823 63945824 63945824 upstr_intron -16 -0.3571429 GGCCACAGCCATTCCAGCTAACGTTGTTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 177 209 1 1 1 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02723326 0.04630219 0.9518764 0.9632323 NA 0.03676772 NA FALSE NA 0.627 2.029 . intron_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 1/7 rs377502297 1 NA T:0.0005 T:0 GCT C,T 2.471e-05 11:63945824 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 intron_variant 0.581063 0.55855 0.12719 0 0.7304559 0.590478 0.005446684 FALSE 2.03051e-05 ENSE00001732534_005 ENSE00001732534 005 11 63713270 63713439 + 42 96 32 C T 63713301 1618 32 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGAAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945828 63945829 63945829 upstr_intron -11 -0.2380952 GGCCACAGCCATTCCAGCTAACGTTGCTTTTTCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 736 130 0.9997917 1 0.9998959 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02702499 0.04630219 0.9518764 0.9632323 NA 0.03666359 NA FALSE NA 0.012 0.978 . intron_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 1/7 rs372428081 1 NA TCC C,T 1.647e-05 11:63945829 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 intron_variant 0.569601 0.33557 0.08365 0.208312 0.6682911 0.0976719 0.005446684 FALSE 1.21825e-05 ENSE00001732534_006 ENSE00001732534 006 11 63713270 63713439 + 42 96 32 C T 63713303 1619 34 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAAGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945830 63945831 63945831 upstr_intron -9 -0.1904762 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCTTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 159 441 1 0.9865608 0.9932804 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02723326 0.03286296 0.9518764 0.9632323 NA 0.03004811 NA FALSE NA 0 -0.24 rs61184552 intron_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 1/7 rs61184552 1 T:0.0072 T:0.0265 T:0.0014 NA T:0 T:0 T:0 T:0.0209 T:0 CCT C,T 0.001697 11:63945831 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 intron_variant 0.533924 0.29543 0.04233 0.208312 0.7828891 0.0976719 0.005446684 FALSE 0.00151067 ENSE00001732534_007 ENSE00001732534 007 11 63713270 63713439 + 42 96 32 G A 63713311 1620 42 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTTTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945838 63945839 63945839 upstr_intron -1 0 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAAAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant 12 13 0.85 0.85 0.85 NA NA NA NA NA 0.9944201 0.9093327 0.9727667 0.9536978 -0.1444201 -0.05933274 NA NA 0.9518764 0.9632323 -0.1018764 NA NA NA FALSE 1 8.834 rs138067800 splice_acceptor_variant HIGH NAA40 HGNC 25845 ENST00000542163 1/7 rs138067800 1 NA A:0 A:0.0002 HC AGA G,A 8.236e-06 11:63945839 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 splice_acceptor_variant 5.901078 0.98299 0.92155 0.208312 0.9950718 0.98523 0.005446684 FALSE 8.12176e-06 ENSE00001732534_008 ENSE00001732534 008 11 63713270 63713439 + 42 96 32 G A 63713317 1621 48 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGATTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945844 63945845 63945845 exon 6 0.0625 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAATCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 503 222 0.9985179 1 0.999259 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02575119 0.04630219 0.9518764 0.9632323 NA 0.03602669 NA FALSE NA 1 1.954 rs3740637 5_prime_UTR_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 2/8 rs3740637&COSM3752594 1 A:0.1701 A:0.0189 A:0.1499 NA A:0.0565 A:0.3946 A:0.2751 A:0.0816 A:0.3985 AGT G,A 0.309 11:63945845 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 synonymous_variant 1.825873 0.96138 0.74504 0.696267 0.8412283 0 0.005446684 FALSE 0.309632 ENSE00001732534_009 ENSE00001732534 009 11 63713270 63713439 + 42 96 32 G A 63713332 1622 63 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCTTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945859 63945860 63945860 exon 21 0.21875 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAAGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 317 31 0.9975741 1 0.998787 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02480732 0.04630219 0.9518764 0.9632323 NA 0.03555475 NA FALSE NA 1 1.816 . 5_prime_UTR_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 2/8 1 NA AGG G,A 1.647e-05 11:63945860 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 synonymous_variant 1.92794 0.96659 0.76639 0.696267 0.8961813 0 0.005446684 FALSE 8.1213e-06 ENSE00001732534_010 ENSE00001732534 010 11 63713270 63713439 + 42 96 32 A C 63713339 1623 70 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTGCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945866 63945867 63945867 exon 28 0.2916667 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGCAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 245 630 0.9623086 0.8733993 0.917854 0.9944201 0.9093327 0.9727667 0.9536978 NA NA -0.01045811 -0.08029848 0.9518764 0.9632323 NA -0.04537829 NA FALSE NA 1 8.358 . 5_prime_UTR_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 2/8 1 NA GAA A,C 2.471e-05 11:63945867 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 missense_variant 4.326723 0.97941 0.93209 0.696267 0.9607997 0 0.005446684 FALSE 2.84245e-05 ENSE00001732534_011 ENSE00001732534 011 11 63713270 63713439 + 42 96 32 G A 63713349 1624 80 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACTGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945876 63945877 63945877 exon 38 0.3958333 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCAGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 3012 723 0.9990672 0.9990469 0.9990571 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.0263005 0.04534905 0.9518764 0.9632323 NA 0.03582478 NA FALSE NA 1 8.834 . 5_prime_UTR_variant MODIFIER NAA40 HGNC 25845 ENST00000542163 2/8 1 NA CGG G,A 8.236e-06 11:63945877 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 missense_variant 4.985823 0.98309 0.93619 0.631981 0.9958409 0 0.005446684 FALSE 4.06062e-06 ENSE00001732534_013 ENSE00001732534 013 11 63713270 63713439 + 42 96 32 G A 63713372 1626 103 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATTCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945899 63945900 63945900 exon -36 0.6354167 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGAATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 251 310 1 1 1 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02723326 0.04630219 0.9518764 0.9632323 NA 0.03676772 NA FALSE NA 1 8.834 . missense_variant MODERATE NAA40 HGNC 25845 ENST00000542163 2/8 1 tolerated_low_confidence(0.29) benign(0.006) NA GGA G,A 8.236e-06 11:63945900 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 missense_variant 3.199141 0.98321 0.93722 0.631981 0.997177 0 0.005446684 FALSE 4.06065e-06 ENSE00001732534_014 ENSE00001732534 014 11 63713270 63713439 + 42 96 32 T C 63713374 1627 105 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCGTCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945901 63945902 63945902 exon -34 0.65625 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGACGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 1297 59 0.9662246 1 0.9831123 0.9944201 0.9093327 0.9727667 0.9536978 NA NA -0.0065421 0.04630219 0.9518764 0.9632323 NA 0.01988004 NA FALSE NA 0.02 -0.491 . synonymous_variant LOW NAA40 HGNC 25845 ENST00000542163 2/8 1 NA ATG T,C 8.236e-06 11:63945902 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 synonymous_variant 0.643326 0.93712 0.21416 0.631981 0.9668693 0 0.005446684 FALSE NA ENSE00001732534_017 ENSE00001732534 017 11 63713270 63713439 + 42 96 32 G C 63713390 1630 121 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCGTCCAGTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945917 63945918 63945918 exon -18 0.8229167 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAACTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 245 1924 1 0.9970833 0.9985417 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02723326 0.04338551 0.9518764 0.9632323 NA 0.03530939 NA FALSE NA 1 8.834 . missense_variant MODERATE NAA40 HGNC 25845 ENST00000542163 2/8 rs376434035 1 tolerated(0.08) benign(0.256) NA C:0 C:0.0001 AGT G,C 8.236e-06 11:63945918 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 missense_variant 3.688952 0.98366 0.94724 0.631981 0.9980697 0 0.005446684 FALSE 4.06078e-06 ENSE00001732534_018 ENSE00001732534 018 11 63713270 63713439 + 42 96 32 C T 63713395 1631 126 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCATCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945922 63945923 63945923 exon -13 0.875 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGATGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 437 157 1 1 1 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02723326 0.04630219 0.9518764 0.9632323 NA 0.03676772 NA FALSE NA 0.005 -1.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:63945923 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 synonymous_variant 2.062704 0.33172 0.05082 0.631981 0.9850748 0 0.005446684 FALSE 0.00141313 ENSE00001732534_019 ENSE00001732534 019 11 63713270 63713439 + 42 96 32 C G 63713395 1632 126 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGCCTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945922 63945923 63945923 exon -13 0.875 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGAGGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 30 165 0.9789109 0.9917521 0.9853315 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.006144139 0.03805424 0.9518764 0.9632323 NA 0.02209919 NA FALSE NA 0.005 -1.024 NA NA NA NAA40 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAA40 NA NA NA ENSG00000110583 ENSE00003614471 missense_variant 0.115588 0.34002 0.06693 0.631981 0.7214183 0 0.005446684 FALSE 8.12143e-06 ENSE00001732534_020 ENSE00001732534 020 11 63713270 63713439 + 42 96 32 G A 63713396 1633 127 GAGGCAGGGACTGGGAAGAAAGGGAGAATCACCCTGTTGGCAGTGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945923 63945924 63945924 exon -12 0.8854167 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACACTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 380 109 0.9994879 0.9472237 0.9733558 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02672115 -0.00647411 0.9518764 0.9632323 NA 0.01012352 NA FALSE NA 1 8.834 rs149315615 missense_variant MODERATE NAA40 HGNC 25845 ENST00000542163 2/8 rs149315615 1 tolerated(0.14) possibly_damaging(0.9) NA A:0.0002 A:0 CGC G,A 1.647e-05 11:63945924 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 missense_variant 5.930292 0.98304 0.93816 0.631981 0.9988994 0 0.005446684 FALSE 1.21826e-05 ENSE00001732534_022 ENSE00001732534 022 11 63713270 63713439 + 42 96 32 C G 63713418 1635 149 GAGGCAGGGACTGGGAAGAAACGGAGAATCACCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTCTGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 63945945 63945946 63945946 downstr_intron 11 1.354839 GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCGTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC mutant NA NA NA NA NA 574 2282 0.9909114 0.9982465 0.9945789 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.01814461 0.04454871 0.9518764 0.9632323 NA 0.03134666 NA FALSE NA 0.002 0.395 NA NA NA NAA40 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:63945946 NAA40 HGNC Symbol protein_coding 18369 ENSG00000110583 ENSE00003614471 non_coding_transcript_exon_variant 0.93135 0.3811 0.02079 0 0.7176011 0.234355 0.005446684 FALSE 4.0618e-06 ENSE00001732534_BRK ENSE00001732534 BRK 11 63713270 63713439 + 42 96 32 A,G; T,T NA NA NA GAGGCAGGGACTGGGAAGAAAGGGAGAATCGGCCTGTTGGCAGCGTCCACTTTGGCACAAACGGCATCCATGGCTGCTCGCTCCTCCAACCGCTTCTGCTTCTTCTCCTTGGCTTTGCTTGACTTTCTAAGCAACAGGGAAAAGCAACGTTAGCTGGAATGGCTGTGGCC 63945797 63945967 NA NA NA NA NA NA GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCTTAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGCCGATTCTCCCTTTCTTCCCAGTCCCTGCCTC GGCCACAGCCATTCCAGCTAACGTTGCTTTTCCCTGTTGCAGAGAAAGTCAAGCAAAGCCAAGGAGAAGAAGCAGAAGCGGTTGGAGGAGCGAGCAGCCATGGATGCCGTTTGTGCCAAAGTGGACGCTGCCAACAGGGTGATTCTCCCTTTCTTCCCAGTCCCTGCCTC control NA NA NA NA NA 17 11 1 1 1 0.9944201 0.9093327 0.9727667 0.9536978 NA NA 0.02723326 0.04630219 0.9518764 0.9632323 NA 0.03676772 NA FALSE NA NA NA NA NA NA NAA40 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NAA40 NA NA NA ENSG00000110583 ENSE00003614471 NA NA NA NA NA NA NA 0.005446684 FALSE NA ENSE00001732647_000 ENSE00001732647 000 11 103005009 103005178 + 41 99 30 NA NA NA NA NA CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 NA NA NA NA NA NA CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT natural 64 31 0.9943157 0.999034 0.9966749 10644 7132 0.9383122 0.9662495 0.9522808 0.9943157 0.999034 0.9383122 0.9662495 0 0 0 0 0.9966749 0.9522808 0 0 0 FALSE FALSE NA NA NA NA NA DYNC2H1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYNC2H1 NA NA NA ENSG00000187240 ENSE00001732647 NA NA NA NA NA NA NA 2.178537e-21 FALSE NA ENSE00001732647_001 ENSE00001732647 001 11 103005009 103005178 + 41 99 30 C G 103005026 2319 18 CCAGCAATACTTTGAGAGTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134296 103134297 103134297 upstr_intron -24 -0.5609756 CCAGCAATACTTTGAGAGTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 24 17 0.85 0.85 0.85 1246 273 0.9493629 0.8458351 0.897599 0.9943157 0.999034 0.9383122 0.9662495 -0.1443157 -0.149034 0.01105074 -0.1204144 0.9966749 0.9522808 -0.1466749 -0.05468182 0.09199304 FALSE FALSE 0 -0.316 . intron_variant MODIFIER DYNC2H1 HGNC 2962 ENST00000398093 14/89 1 NA ACT C,G 8.277e-06 11:103134297 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 intron_variant 0.431811 0.23624 0.15767 0.053691 0.5611973 0.0832456 2.178537e-21 FALSE 4.087e-06 ENSE00001732647_002 ENSE00001732647 002 11 103005009 103005178 + 41 99 30 G A 103005029 2320 21 CCAGCAATACTTTGAGACTAACATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134299 103134300 103134300 upstr_intron -21 -0.4878049 CCAGCAATACTTTGAGACTAACATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 15 12 0.993438 0.9940546 0.9937463 1215 2770 0.9998305 0.9324766 0.9661536 0.9943157 0.999034 0.9383122 0.9662495 -0.0008776615 -0.004979461 0.06151836 -0.03377285 0.9966749 0.9522808 -0.002928561 0.01387275 0.01680131 FALSE FALSE 0 -0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:103134300 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 intron_variant 0.289308 0.18324 0.0236 0.053691 0.7529134 0.0832456 2.178537e-21 FALSE 4.49126e-05 ENSE00001732647_003 ENSE00001732647 003 11 103005009 103005178 + 41 99 30 G C 103005029 2321 21 CCAGCAATACTTTGAGACTACCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134299 103134300 103134300 upstr_intron -21 -0.4878049 CCAGCAATACTTTGAGACTACCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 370 522 0.9956952 0.9913125 0.9935038 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.05738306 0.02506296 0.9966749 0.9522808 NA 0.04122301 NA FALSE NA 0 -0.303 NA NA NA DYNC2H1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYNC2H1 NA NA NA ENSG00000187240 ENSE00001732647 intron_variant -0.053971 0.14824 0.01439 0.053691 0.5997547 0.0832456 2.178537e-21 FALSE 8.16593e-06 ENSE00001732647_005 ENSE00001732647 005 11 103005009 103005178 + 41 99 30 C T 103005034 2323 26 CCAGCAATACTTTGAGACTAGCATGTTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134304 103134305 103134305 upstr_intron -16 -0.3658537 CCAGCAATACTTTGAGACTAGCATGTTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 52 1625 0.9970398 0.9994359 0.9982379 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.05872765 0.03318644 0.9966749 0.9522808 NA 0.04595705 NA FALSE NA 0 -1.401 . intron_variant MODIFIER DYNC2H1 HGNC 2962 ENST00000398093 14/89 rs373238217 1 NA T:0.0003 T:0 GCT C,T 2.483e-05 11:103134305 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 intron_variant 0.198053 0.07602 0.00395 0.053691 0.5783071 0.0832456 2.178537e-21 FALSE 1.63256e-05 ENSE00001732647_006 ENSE00001732647 006 11 103005009 103005178 + 41 99 30 C T 103005036 2324 28 CCAGCAATACTTTGAGACTAGCATGCTTTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134306 103134307 103134307 upstr_intron -14 -0.3170732 CCAGCAATACTTTGAGACTAGCATGCTTTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 774 964 0.999802 0.9977851 0.9987935 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.06148979 0.03153555 0.9966749 0.9522808 NA 0.04651267 NA FALSE NA 0 -0.213 . intron_variant MODIFIER DYNC2H1 HGNC 2962 ENST00000398093 14/89 1 NA TCT C,T 8.278e-06 11:103134307 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 intron_variant 0.959117 0.13906 0.00241 0.053691 0.660121 0.0832456 2.178537e-21 FALSE 4.0813e-06 ENSE00001732647_007 ENSE00001732647 007 11 103005009 103005178 + 41 99 30 A C 103005046 2325 38 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCCTAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134316 103134317 103134317 upstr_intron -4 -0.07317073 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCCTAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 21 17 0.9968264 0.9619699 0.9793981 947 398 1 0.9991082 0.9995541 0.9943157 0.999034 0.9383122 0.9662495 0.002510767 -0.03706419 0.06168784 0.03285867 0.9966749 0.9522808 -0.01727671 0.04727325 0.06454996 FALSE FALSE 0.98 3.046 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:103134317 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 splice_region_variant -0.138226 0.49547 0.82861 0.053691 0.4402687 0.0938438 2.178537e-21 FALSE 4.07737e-06 ENSE00001732647_008 ENSE00001732647 008 11 103005009 103005178 + 41 99 30 A G 103005046 2326 38 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCGTAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134316 103134317 103134317 upstr_intron -4 -0.07317073 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCGTAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 45 63 0.976143 0.9864872 0.9813151 2811 2787 0.9981993 0.9992335 0.9987164 0.9943157 0.999034 0.9383122 0.9662495 -0.01817262 -0.01254685 0.05988716 0.03298397 0.9966749 0.9522808 -0.01535974 0.04643556 0.0617953 FALSE FALSE 0.98 3.046 NA NA NA DYNC2H1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYNC2H1 NA NA NA ENSG00000187240 ENSE00001732647 splice_region_variant 0.111132 0.49777 0.90844 0.053691 0.4684559 0.0938438 2.178537e-21 FALSE 4.07737e-06 ENSE00001732647_009 ENSE00001732647 009 11 103005009 103005178 + 41 99 30 T C 103005047 2327 39 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCACAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134317 103134318 103134318 upstr_intron -3 -0.04878049 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCACAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 561 507 1 0.9996879 0.999844 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.06168784 0.03343843 0.9966749 0.9522808 NA 0.04756313 NA FALSE NA 0.987 0.867 . splice_region_variant&intron_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 14/89 1 NA ATA T,C 1.655e-05 11:103134318 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 splice_region_variant -0.517579 0.29166 0.03329 0.053691 0.3190269 0.145381 2.178537e-21 FALSE 1.22278e-05 ENSE00001732647_010 ENSE00001732647 010 11 103005009 103005178 + 41 99 30 G T 103005050 2328 42 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGTTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134320 103134321 103134321 exon 1 0.01010101 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGTTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 162 104 0 0 0 432 240 0.0008864837 0.1306195 0.065753 0.9943157 0.999034 0.9383122 0.9662495 -0.9943157 -0.999034 -0.9374257 -0.83563 0.9966749 0.9522808 -0.9966749 -0.8865278 0.110147 TRUE TRUE 1 7.249 . missense_variant&splice_region_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 benign(0.426) NA GGT G,T 2.483e-05 11:103134321 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 2.151716 0.99131 0.98536 0.553676 0.9868153 0 2.178537e-21 FALSE 1.63068e-05 ENSE00001732647_011 ENSE00001732647 011 11 103005009 103005178 + 41 99 30 T A 103005058 2329 50 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTACTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134328 103134329 103134329 exon 9 0.09090909 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTACTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 345 1221 1 0.9893761 0.9946881 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.06168784 0.0231266 0.9966749 0.9522808 NA 0.04240722 NA FALSE NA 0 -1.446 . synonymous_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 NA TTC T,A 8.277e-06 11:103134329 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 synonymous_variant -0.19333 0.19725 0.05156 0.615465 0.5701549 0 2.178537e-21 FALSE 4.07189e-06 ENSE00001732647_012 ENSE00001732647 012 11 103005009 103005178 + 41 99 30 C T 103005080 2330 72 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTTGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134350 103134351 103134351 exon 31 0.3131313 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTTGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 202 601 0.9960636 0.9997368 0.9979002 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.05775147 0.03348726 0.9966749 0.9522808 NA 0.04561937 NA FALSE NA 1 4.395 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 COSM200029 1 probably_damaging(0.993) NA TCG C,T 2.483e-05 11:103134351 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 6.539597 0.9862 0.9451 0.615465 0.9990986 0 2.178537e-21 FALSE 2.44429e-05 ENSE00001732647_013 ENSE00001732647 013 11 103005009 103005178 + 41 99 30 G A 103005081 2331 73 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCAGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134351 103134352 103134352 exon 32 0.3232323 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCAGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 764 215 0.9997454 1 0.9998727 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.06143326 0.0337505 0.9966749 0.9522808 NA 0.04759188 NA FALSE NA 1 6.021 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 possibly_damaging(0.572) NA CGG G,A 2.483e-05 11:103134352 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 6.085709 0.9904 0.96734 0.615465 0.9994626 0 2.178537e-21 FALSE 2.44479e-05 ENSE00001732647_014 ENSE00001732647 014 11 103005009 103005178 + 41 99 30 G A 103005082 2332 74 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGACAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134352 103134353 103134353 exon 33 0.3333333 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGACAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 14 17 0.9778408 0.9931096 0.9854752 NA NA NA NA NA 0.9943157 0.999034 0.9383122 0.9662495 -0.01647491 -0.005924473 NA NA 0.9966749 0.9522808 -0.01119969 NA NA NA FALSE 1 0.568 . synonymous_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 NA GGC G,A 8.277e-06 11:103134353 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 synonymous_variant 0.330346 0.97863 0.85138 0.615465 0.5701335 0 2.178537e-21 FALSE 4.07339e-06 ENSE00001732647_015 ENSE00001732647 015 11 103005009 103005178 + 41 99 30 G C 103005085 2333 77 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCACCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134355 103134356 103134356 exon 36 0.3636364 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCACCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 1913 2979 0.9964166 0.9985302 0.9974734 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.05810444 0.03228072 0.9966749 0.9522808 NA 0.04519258 NA FALSE NA 0.999 0.399 rs182352825 missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 rs182352825 1 benign(0.017) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 A:0 A:0.0001 AGC G,C 1.655e-05 11:103134356 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant -0.112721 0.97217 0.82422 0.553676 0.4036385 0 2.178537e-21 FALSE 4.07375e-06 ENSE00001732647_016 ENSE00001732647 016 11 103005009 103005178 + 41 99 30 A G 103005088 2334 80 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAGCAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134358 103134359 103134359 exon 39 0.3939394 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAGCAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 10 11 0.9913639 1 0.9956819 3405 2028 0.9997217 0.9355301 0.9676259 0.9943157 0.999034 0.9383122 0.9662495 -0.002951764 0.0009659571 0.06140952 -0.03071937 0.9966749 0.9522808 -0.0009929037 0.01534507 0.01633798 FALSE FALSE 0.394 -0.361 . synonymous_variant LOW DYNC2H1 HGNC 2962 ENST00000398093 15/90 rs373969189 1 NA G:0.0005 G:0 AAC A,G 0.0001324 11:103134359 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 synonymous_variant -0.899229 0.94884 0.03543 0.553676 0.2473166 0 2.178537e-21 FALSE 8.95955e-05 ENSE00001732647_017 ENSE00001732647 017 11 103005009 103005178 + 41 99 30 C T 103005092 2335 84 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGTGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134362 103134363 103134363 exon 43 0.4343434 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGTGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 854 940 0.8079784 0.9997506 0.9038645 0.9943157 0.999034 0.9383122 0.9662495 NA NA -0.1303338 0.0335011 0.9966749 0.9522808 NA -0.04841634 NA FALSE NA 1 4.154 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 rs576204512 1 possibly_damaging(0.827) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 GCG C,T 1.655e-05 11:103134363 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 5.461448 0.98638 0.95447 0.553676 0.9993428 0 2.178537e-21 FALSE 8.15315e-06 ENSE00001732647_018 ENSE00001732647 018 11 103005009 103005178 + 41 99 30 G A 103005093 2336 85 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCACTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134363 103134364 103134364 exon 44 0.4444444 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCACTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 685 852 0.9997762 0.9980101 0.9988932 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.06146405 0.03176058 0.9966749 0.9522808 NA 0.04661232 NA FALSE NA 1 6.125 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 possibly_damaging(0.707) NA CGC G,A 1.655e-05 11:103134364 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 4.56846 0.99046 0.97129 0.553676 0.9992185 0 2.178537e-21 FALSE 2.03786e-05 ENSE00001732647_019 ENSE00001732647 019 11 103005009 103005178 + 41 99 30 C T 103005110 2337 102 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTATAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134380 103134381 103134381 exon -39 0.6161616 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTATAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 58 44 0.9620335 1 0.9810167 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.02372129 0.0337505 0.9966749 0.9522808 NA 0.02873589 NA FALSE NA 1 5.417 . stop_gained HIGH DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 NA HC ACA C,T 1.655e-05 11:103134381 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 stop_gained 12.12503 0.99061 0.97071 0.615465 0.9984499 0 2.178537e-21 FALSE 1.22342e-05 ENSE00001732647_020 ENSE00001732647 020 11 103005009 103005178 + 41 99 30 A T 103005111 2338 103 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACTAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134381 103134382 103134382 exon -38 0.6262626 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACTAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 26 39 0.85 0.85 0.85 937 591 0.9768876 0.9537397 0.9653136 0.9943157 0.999034 0.9383122 0.9662495 -0.1443157 -0.149034 0.03857542 -0.01250985 0.9966749 0.9522808 -0.1466749 0.01303279 0.1597076 FALSE FALSE 1 6.635 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 benign(0.007) NA CAA A,T 1.655e-05 11:103134382 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 1.86068 0.98649 0.96721 0.615465 0.9885936 0 2.178537e-21 FALSE 1.2232e-05 ENSE00001732647_021 ENSE00001732647 021 11 103005009 103005178 + 41 99 30 G A 103005113 2339 105 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAAAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134383 103134384 103134384 exon -36 0.6464646 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAAAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 2981 705 0.9896581 0.9776742 0.9836661 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.0513459 0.01142473 0.9966749 0.9522808 NA 0.03138531 NA FALSE NA 1 9.088 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 benign(0.187) NA AGA G,A 8.277e-06 11:103134384 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 3.799821 0.99479 0.99095 0.615465 0.9988039 0 2.178537e-21 FALSE 8.15621e-06 ENSE00001732647_022 ENSE00001732647 022 11 103005009 103005178 + 41 99 30 C G 103005123 2340 115 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAAGTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134393 103134394 103134394 exon -26 0.7474747 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAAGTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 947 1104 1 1 1 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.06168784 0.0337505 0.9966749 0.9522808 NA 0.04771917 NA FALSE NA 1 2.772 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 benign(0.004) NA ACT C,G 8.276e-06 11:103134394 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 1.29423 0.98114 0.91078 0.615465 0.8162211 0 2.178537e-21 FALSE 4.07907e-06 ENSE00001732647_023 ENSE00001732647 023 11 103005009 103005178 + 41 99 30 C T 103005132 2341 124 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGTAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134402 103134403 103134403 exon -17 0.8383838 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGTAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 78 130 0.85 0.85 0.85 3927 305 0.9218356 0.9314292 0.9266324 0.9943157 0.999034 0.9383122 0.9662495 -0.1443157 -0.149034 -0.01647656 -0.03482027 0.9966749 0.9522808 -0.1466749 -0.02564841 0.1210264 FALSE FALSE 1 7.191 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 rs377629797 1 benign(0.015) NA T:0.0005 T:0 GCA C,T 1.655e-05 11:103134403 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 3.483712 0.99469 0.99569 0.615465 0.9968632 0 2.178537e-21 FALSE 2.04312e-05 ENSE00001732647_024 ENSE00001732647 024 11 103005009 103005178 + 41 99 30 C T 103005135 2342 127 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAATTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134405 103134406 103134406 exon -14 0.8686869 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAATTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 89 193 0.8438166 0.85 0.8469083 1110 444 0.9858822 0.9872318 0.986557 0.9943157 0.999034 0.9383122 0.9662495 -0.150499 -0.149034 0.04757002 0.02098225 0.9966749 0.9522808 -0.1497665 0.03427613 0.1840427 FALSE FALSE 1 2.347 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 1 benign(0.066) NA ACT C,T 4.138e-05 11:103134406 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 2.346766 0.97675 0.91886 0.615465 0.99185 0 2.178537e-21 FALSE 3.27027e-05 ENSE00001732647_025 ENSE00001732647 025 11 103005009 103005178 + 41 99 30 G A 103005137 2343 129 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTATAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 103134407 103134408 103134408 exon -12 0.8888889 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTATAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 225 482 0.999817 0.9835232 0.9916701 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.06150479 0.01727373 0.9966749 0.9522808 NA 0.03938926 NA FALSE NA 1 4.213 . missense_variant MODERATE DYNC2H1 HGNC 2962 ENST00000398093 15/90 rs370906388 1 benign(0.06) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0016 A:0 TGT G,A 4.139e-05 11:103134408 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 missense_variant 2.686159 0.99027 0.97436 0.615465 0.987624 0 2.178537e-21 FALSE 4.09132e-05 ENSE00001732647_026 ENSE00001732647 026 11 103005009 103005178 + 41 99 30 T C 103005157 2344 149 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTACGTTTTATTTTGTGTGTATACT 103134279 103134449 103134427 103134428 103134428 downstr_intron 9 1.310345 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTACGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant 13 18 1 1 1 487 757 0.9958838 0.9992423 0.997563 0.9943157 0.999034 0.9383122 0.9662495 0.005684337 0.0009659571 0.05757162 0.03299282 0.9966749 0.9522808 0.003325147 0.04528222 0.04195707 FALSE FALSE 0 0.059 . intron_variant MODIFIER DYNC2H1 HGNC 2962 ENST00000398093 15/89 1 NA ATG T,C 8.277e-06 11:103134428 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 intron_variant 0.356655 0.27356 0.25649 0.053691 0.5446655 0.0946503 2.178537e-21 FALSE 4.17206e-06 ENSE00001732647_027 ENSE00001732647 027 11 103005009 103005178 + 41 99 30 G A 103005158 2345 150 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATATTTTATTTTGTGTGTATACT 103134279 103134449 103134428 103134429 103134429 downstr_intron 10 1.344828 CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATATTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT mutant NA NA NA NA NA 996 525 0.998503 0.9989052 0.9987041 0.9943157 0.999034 0.9383122 0.9662495 NA NA 0.06019079 0.03265569 0.9966749 0.9522808 NA 0.04642324 NA FALSE NA 0.004 0.481 . intron_variant MODIFIER DYNC2H1 HGNC 2962 ENST00000398093 15/89 1 NA TGT G,A 1.655e-05 11:103134429 DYNC2H1 HGNC Symbol protein_coding 370432 ENSG00000187240 ENSE00001732647 intron_variant 0.374072 0.16556 0.02403 0.053691 0.5390392 0.0840473 2.178537e-21 FALSE 4.18715e-06 ENSE00001732647_BRK ENSE00001732647 BRK 11 103005009 103005178 + 41 99 30 A,G; T,T NA NA NA CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATTTGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGCCAGAGTATGTTTTATTTTGTGTGTATACT 103134279 103134449 NA NA NA NA NA NA CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATTTGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGCCAGAGTATGTTTTATTTTGTGTGTATACT CCAGCAATACTTTGAGACTAGCATGCTCTAATTTTTCATAGGTGGTTGTTCTTATGAATATTGATCTGCTTCGGCAGCAACAGCGCTGGAAAGATGGATTACAAGAATTGAGAACTGGCTTAGCAACTGTAGAAGCACAGGTAGAGTATGTTTTATTTTGTGTGTATACT control 66 88 0 0 0 1614 1183 0.001864674 0.005460302 0.003662488 0.9943157 0.999034 0.9383122 0.9662495 -0.9943157 -0.999034 -0.9364475 -0.9607892 0.9966749 0.9522808 -0.9966749 -0.9486183 0.04805651 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYNC2H1 NA NA NA ENSG00000187240 ENSE00001732647 NA NA NA NA NA NA NA 2.178537e-21 FALSE NA ENSE00001733168_000 ENSE00001733168 000 5 178608035 178608204 - 38 84 48 NA NA NA NA NA CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 NA NA NA NA NA NA CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC natural 32 28 0.998851 0.9978428 0.9983469 539 1041 0.9980754 0.979305 0.9886902 0.998851 0.9978428 0.9980754 0.979305 0 0 0 0 0.9983469 0.9886902 0 0 0 FALSE FALSE NA NA NA NA NA ADAMTS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS2 NA NA NA ENSG00000087116 ENSE00002514040 NA NA NA NA NA NA NA 0.9922135 TRUE NA ENSE00001733168_001 ENSE00001733168 001 5 178608035 178608204 - 38 84 48 A C 178608046 2520 159 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCGGCCTCCACCCC 179181033 179181203 179181044 179181045 179181045 downstr_intron 27 1.72973 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCGGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 51 667 1 1 1 0.998851 0.9978428 0.9980754 0.979305 NA NA 0.001924572 0.02069504 0.9983469 0.9886902 NA 0.0113098 NA FALSE NA 0 -1.709 . intron_variant MODIFIER ADAMTS2 HGNC 218 ENST00000274609 5/10 1 NA CAG A,C 8.237e-06 5:179181045 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 intron_variant 0.137782 0.17659 0.00757 0.053691 0.765742 0.0625886 0.9922135 TRUE 4.07847e-06 ENSE00001733168_002 ENSE00001733168 002 5 178608035 178608204 - 38 84 48 C T 178608051 2521 154 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCAGGCCTGCCTCCACCCC 179181033 179181203 179181049 179181050 179181050 downstr_intron 22 1.594595 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCAGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 734 458 1 0.9999169 0.9999584 0.998851 0.9978428 0.9980754 0.979305 NA NA 0.001924572 0.0206119 0.9983469 0.9886902 NA 0.01126824 NA FALSE NA 0 -3.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:179181050 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 intron_variant -0.38494 0.11774 0.00841 0.053691 0.6515571 0.0477024 0.9922135 TRUE 8.15375e-06 ENSE00001733168_003 ENSE00001733168 003 5 178608035 178608204 - 38 84 48 C G 178608051 2522 154 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCCGGCCTGCCTCCACCCC 179181033 179181203 179181049 179181050 179181050 downstr_intron 22 1.594595 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCCGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 253 113 0.9956925 1 0.9978462 0.998851 0.9978428 0.9980754 0.979305 NA NA -0.002382939 0.02069504 0.9983469 0.9886902 NA 0.009156048 NA FALSE NA 0 -3.68 NA NA NA ADAMTS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS2 NA NA NA ENSG00000087116 ENSE00002514040 intron_variant -0.516423 0.13167 0.00458 0.053691 0.4519795 0.0477024 0.9922135 TRUE NA ENSE00001733168_006 ENSE00001733168 006 5 178608035 178608204 - 38 84 48 A G 178608079 2525 126 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTACGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181077 179181078 179181078 exon -7 0.9285714 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTACGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 338 350 0.9939696 1 0.9969848 0.998851 0.9978428 0.9980754 0.979305 NA NA -0.004105847 0.02069504 0.9983469 0.9886902 NA 0.008294595 NA FALSE NA 0.004 -0.069 . synonymous_variant LOW ADAMTS2 HGNC 218 ENST00000274609 5/11 rs374590440 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CAT A,G 2.471e-05 5:179181078 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 synonymous_variant -1.04002 0.14033 0.00949 0.615465 0.2729724 0 0.9922135 TRUE 3.25095e-05 ENSE00001733168_007 ENSE00001733168 007 5 178608035 178608204 - 38 84 48 C T 178608083 2526 122 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAACTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181081 179181082 179181082 exon -11 0.8809524 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAACTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 21 134 0.9359157 1 0.9679579 0.998851 0.9978428 0.9980754 0.979305 NA NA -0.0621597 0.02069504 0.9983469 0.9886902 NA -0.02073233 NA FALSE NA 1 4.681 . missense_variant MODERATE ADAMTS2 HGNC 218 ENST00000274609 5/11 rs201702236&COSM208373 1 tolerated(0.12) benign(0.049) T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 GCT C,T 4.118e-05 5:179181082 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 missense_variant 2.155041 0.99065 0.95083 0.615465 0.9823425 0 0.9922135 TRUE 2.4377e-05 ENSE00001733168_010 ENSE00001733168 010 5 178608035 178608204 - 38 84 48 C T 178608108 2529 97 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGATCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181106 179181107 179181107 exon -36 0.5833333 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGATCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 47 186 1 0.9815028 0.9907514 0.998851 0.9978428 0.9980754 0.979305 NA NA 0.001924572 0.002197851 0.9983469 0.9886902 NA 0.002061212 NA FALSE NA 1 6.319 . missense_variant MODERATE ADAMTS2 HGNC 218 ENST00000274609 5/11 1 tolerated(0.18) possibly_damaging(0.82) NA ACC C,T 1.647e-05 5:179181107 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 missense_variant 4.492082 0.98801 0.95423 0.615465 0.9986399 0 0.9922135 TRUE 4.06194e-06 ENSE00001733168_011 ENSE00001733168 011 5 178608035 178608204 - 38 84 48 C T 178608111 2530 94 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACATGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181109 179181110 179181110 exon -39 0.547619 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACATGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 719 304 0.9959393 1 0.9979696 0.998851 0.9978428 0.9980754 0.979305 NA NA -0.002136131 0.02069504 0.9983469 0.9886902 NA 0.009279453 NA FALSE NA 1 4.677 . missense_variant MODERATE ADAMTS2 HGNC 218 ENST00000274609 5/11 rs535377243 1 deleterious(0.01) probably_damaging(0.979) NA ACG C,T 4.942e-05 5:179181110 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 missense_variant 6.229959 0.98139 0.90471 0.615465 0.9989554 0 0.9922135 TRUE 6.49936e-05 ENSE00001733168_013 ENSE00001733168 013 5 178608035 178608204 - 38 84 48 T C 178608113 2532 92 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAGCGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181111 179181112 179181112 exon -41 0.5238095 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAGCGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 1837 222 0.9989649 0.9992869 0.9991259 0.998851 0.9978428 0.9980754 0.979305 NA NA 0.0008894746 0.01998197 0.9983469 0.9886902 NA 0.01043572 NA FALSE NA 1 6.496 NA NA NA ADAMTS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:179181112 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 missense_variant 4.328992 0.98598 0.95169 0.615465 0.9986679 0 0.9922135 TRUE 0.000158416 ENSE00001733168_015 ENSE00001733168 015 5 178608035 178608204 - 38 84 48 G A 178608121 2534 84 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCTCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181119 179181120 179181120 exon 36 0.4285714 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCTCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 28 1491 1 0.9951137 0.9975568 0.998851 0.9978428 0.9980754 0.979305 NA NA 0.001924572 0.01580869 0.9983469 0.9886902 NA 0.00886663 NA FALSE NA 1 1.626 rs143588140 synonymous_variant LOW ADAMTS2 HGNC 218 ENST00000274609 5/11 rs143588140 1 NA A:0.0002 A:0 GGG G,A 8.236e-06 5:179181120 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 synonymous_variant 0.852599 0.96727 0.77434 0.615465 0.7005786 0 0.9922135 TRUE 4.0619e-06 ENSE00001733168_016 ENSE00001733168 016 5 178608035 178608204 - 38 84 48 G C 178608130 2535 75 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCGTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181128 179181129 179181129 exon 27 0.3214286 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCGTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 576 315 0.9956327 0.9970467 0.9963397 0.998851 0.9978428 0.9980754 0.979305 NA NA -0.002442717 0.01774173 0.9983469 0.9886902 NA 0.007649508 NA FALSE NA 0.001 -0.659 NA NA NA ADAMTS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:179181129 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 synonymous_variant -0.065505 0.23867 0.03777 0.615465 0.5121516 0 0.9922135 TRUE 8.12367e-06 ENSE00001733168_020 ENSE00001733168 020 5 178608035 178608204 - 38 84 48 G A 178608154 2539 51 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTTAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181152 179181153 179181153 exon 3 0.03571429 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTTAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 264 13 0.9958752 1 0.9979376 0.998851 0.9978428 0.9980754 0.979305 NA NA -0.002200277 0.02069504 0.9983469 0.9886902 NA 0.00924738 NA FALSE NA 0.976 -0.052 . splice_region_variant&synonymous_variant LOW ADAMTS2 HGNC 218 ENST00000274609 5/11 1 NA TGA G,A 8.236e-06 5:179181153 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 splice_region_variant 1.363466 0.94167 0.51949 0.615465 0.6474306 0 0.9922135 TRUE 4.0627e-06 ENSE00001733168_021 ENSE00001733168 021 5 178608035 178608204 - 38 84 48 G C 178608169 2540 36 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCGTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181167 179181168 179181168 upstr_intron -13 -0.25 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCGTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 626 75 0.9964628 1 0.9982314 0.998851 0.9978428 0.9980754 0.979305 NA NA -0.001612637 0.02069504 0.9983469 0.9886902 NA 0.0095412 NA FALSE NA 0.598 1.281 . intron_variant MODIFIER ADAMTS2 HGNC 218 ENST00000274609 4/10 1 NA AGG G,C 8.236e-06 5:179181168 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 intron_variant 0.377796 0.97666 0.89742 0.053691 0.6191418 0.944021 0.9922135 TRUE 4.06497e-06 ENSE00001733168_022 ENSE00001733168 022 5 178608035 178608204 - 38 84 48 G A 178608170 2541 35 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCTCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181168 179181169 179181169 upstr_intron -14 -0.2708333 CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCTCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 127 120 1 0.9836438 0.9918219 0.998851 0.9978428 0.9980754 0.979305 NA NA 0.001924572 0.00433879 0.9983469 0.9886902 NA 0.003131681 NA FALSE NA 0.573 1.568 . intron_variant MODIFIER ADAMTS2 HGNC 218 ENST00000274609 4/10 rs546228866 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 GGG G,A 1.647e-05 5:179181169 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 intron_variant 0.484752 0.89968 0.51249 0.053691 0.5511212 0.269413 0.9922135 TRUE 1.21963e-05 ENSE00001733168_023 ENSE00001733168 023 5 178608035 178608204 - 38 84 48 C T 178608181 2542 24 CAGTCCTAGGGCCTGTGGTTCCCACTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181179 179181180 179181180 upstr_intron -25 -0.5 CAGTCCTAGGGCCTGTGGTTCCCACTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 124 38 0.9652921 1 0.982646 0.998851 0.9978428 0.9980754 0.979305 NA NA -0.03278334 0.02069504 0.9983469 0.9886902 NA -0.006044151 NA FALSE NA 0.001 -0.062 . intron_variant MODIFIER ADAMTS2 HGNC 218 ENST00000274609 4/10 1 NA GCG C,T 1.647e-05 5:179181180 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 intron_variant -0.112858 0.17826 0.05384 0.053691 0.5403207 0.151247 0.9922135 TRUE NA ENSE00001733168_024 ENSE00001733168 024 5 178608035 178608204 - 38 84 48 G A 178608182 2543 23 CAGTCCTAGGGCCTGTGGTTCCTGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC 179181033 179181203 179181180 179181181 179181181 upstr_intron -26 -0.5208333 CAGTCCTAGGGCCTGTGGTTCCTGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC CAGTCCTAGGGCCTGTGGTTCCCGCTGATGCCTCCCTGTTTCTTTCAGGTCAATGAAATCTACCATGACGAGTCCTTGGGTGCCCACATCAACGTGGTCCTGGTGCGGATCATCCTCCTGAGCTATGGAAAGGTGAGTGCACTGTGGCCAGCCGGGCCTGCCTCCACCCC mutant NA NA NA NA NA 231 210 1 1 1 0.998851 0.9978428 0.9980754 0.979305 NA NA 0.001924572 0.02069504 0.9983469 0.9886902 NA 0.0113098 NA FALSE NA 0.041 1.215 . intron_variant MODIFIER ADAMTS2 HGNC 218 ENST00000274609 4/10 rs373297165 1 NA A:0 A:0.0001 CGG G,A 6.589e-05 5:179181181 ADAMTS2 HGNC Symbol protein_coding 234579 ENSG00000087116 ENSE00002514040 intron_variant -0.091476 0.11266 0.00128 0.053691 0.5057108 0.152352 0.9922135 TRUE 7.33251e-05 ENSE00001733932_000 ENSE00001733932 000 X 16711226 16711395 - 38 84 48 NA NA NA NA NA GACCTTCAGGATAGACTTACCCACTGTCCTCAACTCACCAGATCTGGAGACAGGCCTAAACCCCTCAGTGCGCGGACGCTGTTTTGGGTGGGTTTGGTTTTTTGTTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGTCCCGTCAGCACACTGGACACTAGCTCCTATG 16693102 16693272 NA NA NA NA NA NA CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC natural 114 69 0.9188519 0.9796 0.949226 1503 1207 0.8582308 0.9010379 0.8796343 0.9188519 0.9796 0.8582308 0.9010379 0 0 0 0 0.949226 0.8796343 0 0 0 FALSE FALSE NA NA NA NA NA CTPS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTPS2 NA NA NA ENSG00000047230 ENSE00001733932 NA NA NA NA NA NA NA 0.4336846 FALSE NA ENSE00001733932_002 ENSE00001733932 002 X 16711226 16711395 - 38 84 48 A G 16711257 142 139 GACCTTCAGGATAGACTTACCCACTGTCCTCGACTCACCAGATCTGGAGACAGGCCTAAACCCCTCAGTGCGCGGACGCTGTTTTGGGTGGGTTTGGTTTTTTGTTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGTCCCGTCAGCACACTGGACACTAGCTCCTATG 16693102 16693272 16693133 16693134 16693134 downstr_intron 7 1.189189 CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTCGAGGACAGTGGGTAAGTCTATCCTGAAGGTC CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC mutant NA NA NA NA NA 465 110 0.989579 1 0.9947895 0.9188519 0.9796 0.8582308 0.9010379 NA NA 0.1313482 0.09896213 0.949226 0.8796343 NA 0.1151552 NA FALSE NA 0.667 1.94 . splice_region_variant&intron_variant LOW CTPS2 HGNC 2520 ENST00000359276 6/18 1 NA CAA A,G 2.471e-05 X:16693134 CTPS2 HGNC Symbol protein_coding 124933 ENSG00000047230 ENSE00001733932 splice_region_variant 0.525905 0.27679 0.37983 0 0.6305192 0.253521 0.4336846 FALSE 3.3671e-05 ENSE00001733932_003 ENSE00001733932 003 X 16711226 16711395 - 38 84 48 A G 16711301 143 95 GACCTTCAGGATAGACTTACCCACTGTCCTCAACTCACCAGATCTGGAGACAGGCCTAAACCCCTCAGTGCGCGGGCGCTGTTTTGGGTGGGTTTGGTTTTTTGTTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGTCCCGTCAGCACACTGGACACTAGCTCCTATG 16693102 16693272 16693177 16693178 16693178 exon -38 0.5595238 CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGCCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC mutant NA NA NA NA NA 486 334 0.9965132 0.9712055 0.9838593 0.9188519 0.9796 0.8582308 0.9010379 NA NA 0.1382824 0.07016761 0.949226 0.8796343 NA 0.104225 NA FALSE NA 1 8.933 rs141143406 missense_variant MODERATE CTPS2 HGNC 2520 ENST00000359276 6/19 rs141143406 1 deleterious(0.01) probably_damaging(0.956) NA G:0.0003 G:0 GAC A,G 8.236e-06 X:16693178 CTPS2 HGNC Symbol protein_coding 124933 ENSG00000047230 ENSE00001733932 missense_variant 5.515252 0.99148 0.99435 0 0.99845 0 0.4336846 FALSE NA ENSE00001733932_005 ENSE00001733932 005 X 16711226 16711395 - 38 84 48 G A 16711303 145 93 GACCTTCAGGATAGACTTACCCACTGTCCTCAACTCACCAGATCTGGAGACAGGCCTAAACCCCTCAGTGCGCGGACACTGTTTTGGGTGGGTTTGGTTTTTTGTTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGTCCCGTCAGCACACTGGACACTAGCTCCTATG 16693102 16693272 16693179 16693180 16693180 exon -40 0.5357143 CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGTGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC mutant NA NA NA NA NA 349 1249 0.9570652 0.9646726 0.9608689 0.9188519 0.9796 0.8582308 0.9010379 NA NA 0.09883442 0.06363471 0.949226 0.8796343 NA 0.08123456 NA FALSE NA 0.979 0.191 . synonymous_variant LOW CTPS2 HGNC 2520 ENST00000359276 6/19 1 NA CGC G,A 8.236e-06 X:16693180 CTPS2 HGNC Symbol protein_coding 124933 ENSG00000047230 ENSE00001733932 synonymous_variant 1.44426 0.96199 0.34721 0 0.5740685 0 0.4336846 FALSE 1.68056e-05 ENSE00001733932_006 ENSE00001733932 006 X 16711226 16711395 - 38 84 48 T C 16711307 146 89 GACCTTCAGGATAGACTTACCCACTGTCCTCAACTCACCAGATCTGGAGACAGGCCTAAACCCCTCAGTGCGCGGACGCTGCTTTGGGTGGGTTTGGTTTTTTGTTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGTCCCGTCAGCACACTGGACACTAGCTCCTATG 16693102 16693272 16693183 16693184 16693184 exon 41 0.4880952 CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAGCAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC mutant NA NA NA NA NA 81 590 0.9899288 1 0.9949644 0.9188519 0.9796 0.8582308 0.9010379 NA NA 0.131698 0.09896213 0.949226 0.8796343 NA 0.1153301 NA FALSE NA 1 4.755 . missense_variant MODERATE CTPS2 HGNC 2520 ENST00000359276 6/19 1 tolerated(0.39) benign(0.052) NA GTT T,C 8.236e-06 X:16693184 CTPS2 HGNC Symbol protein_coding 124933 ENSG00000047230 ENSE00001733932 missense_variant 0.934921 0.98019 0.96592 0 0.9899371 0 0.4336846 FALSE NA ENSE00001733932_007 ENSE00001733932 007 X 16711226 16711395 - 38 84 48 T C 16711330 147 66 GACCTTCAGGATAGACTTACCCACTGTCCTCAACTCACCAGATCTGGAGACAGGCCTAAACCCCTCAGTGCGCGGACGCTGTTTTGGGTGGGTTTGGTTTTTTGCTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGTCCCGTCAGCACACTGGACACTAGCTCCTATG 16693102 16693272 16693206 16693207 16693207 exon 18 0.2142857 CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAGCAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC mutant NA NA NA NA NA 272 380 1 0.9995836 0.9997918 0.9188519 0.9796 0.8582308 0.9010379 NA NA 0.1417692 0.09854571 0.949226 0.8796343 NA 0.1201575 NA FALSE NA 1 0.893 . synonymous_variant LOW CTPS2 HGNC 2520 ENST00000359276 6/19 1 NA GTT T,C 8.236e-06 X:16693207 CTPS2 HGNC Symbol protein_coding 124933 ENSG00000047230 ENSE00001733932 synonymous_variant -1.012703 0.97551 0.83122 0 0.4129316 0 0.4336846 FALSE 1.12016e-05 ENSE00001733932_009 ENSE00001733932 009 X 16711226 16711395 - 38 84 48 G A 16711345 149 51 GACCTTCAGGATAGACTTACCCACTGTCCTCAACTCACCAGATCTGGAGACAGGCCTAAACCCCTCAGTGCGCGGACGCTGTTTTGGGTGGGTTTGGTTTTTTGTTCTCCGGTAGCACTAAGCTGAAAAAAAATGGGGTCCCGTCAGCACACTGGACACTAGCTCCTATG 16693102 16693272 16693221 16693222 16693222 exon 3 0.03571429 CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTTAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC mutant NA NA NA NA NA 246 1311 0.9896358 0.9874055 0.9885206 0.9188519 0.9796 0.8582308 0.9010379 NA NA 0.131405 0.08636761 0.949226 0.8796343 NA 0.1088863 NA FALSE NA 0.998 0.86 . splice_region_variant&synonymous_variant LOW CTPS2 HGNC 2520 ENST00000359276 6/19 1 NA TGA G,A 1.647e-05 X:16693222 CTPS2 HGNC Symbol protein_coding 124933 ENSG00000047230 ENSE00001733932 splice_region_variant 0.030151 0.8996 0.78715 0 0.4758201 0 0.4336846 FALSE 1.68069e-05 ENSE00001733932_011 ENSE00001733932 011 X 16711226 16711395 - 38 84 48 C T 16711365 151 31 GACCTTCAGGATAGACTTACCCACTGTCCTCAACTCACCAGATCTGGAGACAGGCCTAAACCCCTCAGTGCGCGGACGCTGTTTTGGGTGGGTTTGGTTTTTTGTTCTCCGGTAGCACTGAGCTGAAAAAAAATGGGGTTCCGTCAGCACACTGGACACTAGCTCCTATG 16693102 16693272 16693241 16693242 16693242 upstr_intron -18 -0.3541667 CATAGGAGCTAGTGTCCAGTGTGCTGACGGAACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC CATAGGAGCTAGTGTCCAGTGTGCTGACGGGACCCCATTTTTTTTCAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGTGAGTTGAGGACAGTGGGTAAGTCTATCCTGAAGGTC mutant NA NA NA NA NA 243 98 1 1 1 0.9188519 0.9796 0.8582308 0.9010379 NA NA 0.1417692 0.09896213 0.949226 0.8796343 NA 0.1203657 NA FALSE NA 0.027 0.02 . intron_variant MODIFIER CTPS2 HGNC 2520 ENST00000359276 5/18 1 NA TCC C,T 1.647e-05 X:16693242 CTPS2 HGNC Symbol protein_coding 124933 ENSG00000047230 ENSE00001733932 intron_variant -0.00592 0.23556 0.03342 0 0.4457949 0.112627 0.4336846 FALSE 5.6062e-06 ENSE00001733941_000 ENSE00001733941 000 14 73190309 73190478 - 32 96 42 NA NA NA NA NA CTCTTTCCTCGCTCATGTCATCCCCAACTTACCCGTCCTCTAGTCCTGTTCTTTCGCTTGGGAATATCCTCTTCCAAATCCTCTTCTTCATTCCCTTCTTCTACATTTTCATCATTTTCCAAAACCCTCTGAAATGAAAAAAAAAAATAGAAAAGGTGAGAAACGAAATG 72723600 72723770 NA NA NA NA NA NA CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG natural NA NA NA NA NA 270 311 1 0.9306095 0.9653048 NA NA 1 0.9306095 NA NA 0 0 NA 0.9653048 NA 0 NA FALSE NA NA NA NA NA NA DPF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DPF3 NA NA NA ENSG00000205683 ENSE00003628504 NA NA NA NA NA NA NA 0.8284818 FALSE NA ENSE00001733941_006 ENSE00001733941 006 14 73190309 73190478 - 32 96 42 C T 73190365 964 114 CTCTTTCCTCGCTCATGTCATCCCCAACTTACCCGTCCTCTAGTCCTGTTCTTTCGTTTGGGAATATCCTCTTCCAAATCCTCTTCTTCATTCCCTTCTTCTACATTTTCATCATTTTCCAAAACCCTCTGAAATGAAAAAAAAAAATAGAAAAGGTGAGAAACGAAATG 72723600 72723770 72723656 72723657 72723657 exon -25 0.75 CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAACGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG mutant NA NA NA NA NA 406 71 0.950904 1 0.975452 NA NA 1 0.9306095 NA NA -0.04909596 0.0693905 NA 0.9653048 NA 0.01014727 NA FALSE NA 1 1.792 . synonymous_variant&NMD_transcript_variant LOW DPF3 HGNC 17427 ENST00000366353 5/10 COSM957549&COSM1587570&COSM957548 1 NA GCT C,T 8.275e-06 14:72723657 DPF3 HGNC Symbol protein_coding 274820 ENSG00000205683 ENSE00003628504 synonymous_variant 1.698404 0.97172 0.69637 0.562547 0.6740234 0 0.8284818 FALSE 9.04593e-06 ENSE00001733941_011 ENSE00001733941 011 14 73190309 73190478 - 32 96 42 T G 73190408 969 71 CTCTTTCCTCGCTCATGTCATCCCCAACTTACCCGTCCTCTAGTCCTGTTCTTTCGCTTGGGAATATCCTCTTCCAAATCCTCTTCTTCATTCCCTTCTGCTACATTTTCATCATTTTCCAAAACCCTCTGAAATGAAAAAAAAAAATAGAAAAGGTGAGAAACGAAATG 72723600 72723770 72723699 72723700 72723700 exon 29 0.3020833 CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGCAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG mutant NA NA NA NA NA 174 148 0.9997632 0.9905268 0.995145 NA NA 1 0.9306095 NA NA -0.0002367537 0.05991733 NA 0.9653048 NA 0.02984029 NA FALSE NA 1 5.807 . missense_variant&NMD_transcript_variant MODERATE DPF3 HGNC 17427 ENST00000366353 5/10 1 tolerated(0.08) benign(0.431) NA TTC T,G 8.278e-06 14:72723700 DPF3 HGNC Symbol protein_coding 274820 ENSG00000205683 ENSE00003628504 missense_variant 2.656691 0.98589 0.96893 0.6512 0.9874252 0 0.8284818 FALSE 4.58897e-06 ENSE00001733941_013 ENSE00001733941 013 14 73190309 73190478 - 32 96 42 C T 73190418 971 61 CTCTTTCCTCGCTCATGTCATCCCCAACTTACCCGTCCTCTAGTCCTGTTCTTTCGCTTGGGAATATCCTCTTCCAAATCCTCTTCTTCATTCCCTTCTTCTACATTTTTATCATTTTCCAAAACCCTCTGAAATGAAAAAAAAAAATAGAAAAGGTGAGAAACGAAATG 72723600 72723770 72723709 72723710 72723710 exon 19 0.1979167 CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATAAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG mutant NA NA NA NA NA 119 13 1 1 1 NA NA 1 0.9306095 NA NA 0 0.0693905 NA 0.9653048 NA 0.03469525 NA FALSE NA 1 5.651 . missense_variant&NMD_transcript_variant MODERATE DPF3 HGNC 17427 ENST00000366353 5/10 1 tolerated(0.09) probably_damaging(0.917) NA TCA C,T 8.279e-06 14:72723710 DPF3 HGNC Symbol protein_coding 274820 ENSG00000205683 ENSE00003628504 missense_variant 5.173388 0.98805 0.96555 0.6512 0.9988262 0 0.8284818 FALSE 4.81993e-06 ENSE00001733941_015 ENSE00001733941 015 14 73190309 73190478 - 32 96 42 T A 73190420 973 59 CTCTTTCCTCGCTCATGTCATCCCCAACTTACCCGTCCTCTAGTCCTGTTCTTTCGCTTGGGAATATCCTCTTCCAAATCCTCTTCTTCATTCCCTTCTTCTACATTTTCAACATTTTCCAAAACCCTCTGAAATGAAAAAAAAAAATAGAAAAGGTGAGAAACGAAATG 72723600 72723770 72723711 72723712 72723712 exon 17 0.1770833 CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGTTGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG mutant NA NA NA NA NA 29 16 1 0.9238364 0.9619182 NA NA 1 0.9306095 NA NA 0 -0.006773095 NA 0.9653048 NA -0.003386548 NA FALSE NA 1 5.807 . missense_variant&NMD_transcript_variant MODERATE DPF3 HGNC 17427 ENST00000366353 5/10 1 deleterious(0.05) probably_damaging(0.984) NA ATC T,A 8.279e-06 14:72723712 DPF3 HGNC Symbol protein_coding 274820 ENSG00000205683 ENSE00003628504 missense_variant 5.406515 0.98577 0.96738 0.6512 0.9851439 0 0.8284818 FALSE 4.819e-06 ENSE00001733941_017 ENSE00001733941 017 14 73190309 73190478 - 32 96 42 C T 73190434 975 45 CTCTTTCCTCGCTCATGTCATCCCCAACTTACCCGTCCTCTAGTCCTGTTCTTTCGCTTGGGAATATCCTCTTCCAAATCCTCTTCTTCATTCCCTTCTTCTACATTTTCATCATTTTCCAAAACTCTCTGAAATGAAAAAAAAAAATAGAAAAGGTGAGAAACGAAATG 72723600 72723770 72723725 72723726 72723726 exon 3 0.03125 CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGAGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG mutant NA NA NA NA NA 56 14 0.9944811 1 0.9972406 NA NA 1 0.9306095 NA NA -0.005518853 0.0693905 NA 0.9653048 NA 0.03193582 NA FALSE NA 1 0.927 . splice_region_variant&synonymous_variant&NMD_transcript_variant LOW DPF3 HGNC 17427 ENST00000366353 5/10 rs370363163 1 NA T:0 T:0.0002 CCC C,T 6.623e-05 14:72723726 DPF3 HGNC Symbol protein_coding 274820 ENSG00000205683 ENSE00003628504 splice_region_variant 1.870271 0.96896 0.7424 0.6512 0.840224 0 0.8284818 FALSE 5.56472e-05 ENSE00001733941_018 ENSE00001733941 018 14 73190309 73190478 - 32 96 42 T C 73190436 976 43 CTCTTTCCTCGCTCATGTCATCCCCAACTTACCCGTCCTCTAGTCCTGTTCTTTCGCTTGGGAATATCCTCTTCCAAATCCTCTTCTTCATTCCCTTCTTCTACATTTTCATCATTTTCCAAAACCCCCTGAAATGAAAAAAAAAAATAGAAAAGGTGAGAAACGAAATG 72723600 72723770 72723727 72723728 72723728 exon 1 0.01041667 CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGGGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG CATTTCGTTTCTCACCTTTTCTATTTTTTTTTTTCATTTCAGAGGGTTTTGGAAAATGATGAAAATGTAGAAGAAGGGAATGAAGAAGAGGATTTGGAAGAGGATATTCCCAAGCGAAAGAACAGGACTAGAGGACGGGTAAGTTGGGGATGACATGAGCGAGGAAAGAG mutant NA NA NA NA NA 281 116 0.993946 1 0.996973 NA NA 1 0.9306095 NA NA -0.006054032 0.0693905 NA 0.9653048 NA 0.03166823 NA FALSE NA 1 4.204 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE DPF3 HGNC 17427 ENST00000366353 5/10 1 tolerated(0.07) probably_damaging(0.954) NA CTC T,C 1.656e-05 14:72723728 DPF3 HGNC Symbol protein_coding 274820 ENSG00000205683 ENSE00003628504 missense_variant 5.277754 0.98541 0.95058 0.6512 0.9970577 0 0.8284818 FALSE NA ENSE00001734682_000 ENSE00001734682 000 9 116997816 116997985 + 63 54 53 NA NA NA NA NA TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 NA NA NA NA NA NA TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC natural 62 67 0.8922629 0.9902785 0.9412707 938 1150 0.8396543 0.9436334 0.8916438 0.8922629 0.9902785 0.8396543 0.9436334 0 0 0 0 0.9412707 0.8916438 0 0 0 FALSE FALSE NA NA NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003654209 NA NA NA NA NA NA NA 0.9999994 TRUE NA ENSE00001734682_001 ENSE00001734682 001 9 116997816 116997985 + 63 54 53 A G 116997832 1769 17 TGGGGGAGGCTTCCAGGACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235551 114235552 114235552 upstr_intron -47 -0.7301587 TGGGGGAGGCTTCCAGGACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 35 50 1 1 1 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05636665 0.9412707 0.8916438 NA 0.1083562 NA FALSE NA 0 0.562 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 13/57 1 NA GAA A,G 8.236e-06 9:114235552 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 0.542565 0.24971 0.05648 0.252739 0.7522279 0.0568552 0.9999994 TRUE 4.06438e-06 ENSE00001734682_003 ENSE00001734682 003 9 116997816 116997985 + 63 54 53 C T 116997838 1771 23 TGGGGGAGGCTTCCAGAACCCATGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235557 114235558 114235558 upstr_intron -41 -0.6349206 TGGGGGAGGCTTCCAGAACCCATGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 12 116 1 0.9582797 0.9791398 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.01464634 0.9412707 0.8916438 NA 0.087496 NA FALSE NA 0 -3.192 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:114235558 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant -0.355111 0.08299 0.00418 0.252739 0.7783354 0.0744298 0.9999994 TRUE 3.65723e-05 ENSE00001734682_004 ENSE00001734682 004 9 116997816 116997985 + 63 54 53 C G 116997838 1772 23 TGGGGGAGGCTTCCAGAACCCAGGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235557 114235558 114235558 upstr_intron -41 -0.6349206 TGGGGGAGGCTTCCAGAACCCAGGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 91 839 1 0.9976951 0.9988476 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05406176 0.9412707 0.8916438 NA 0.1072037 NA FALSE NA 0 -3.192 NA NA NA COL27A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL27A1 NA NA NA ENSG00000196739 ENSE00003654209 intron_variant -0.563605 0.11418 0.06742 0.252739 0.6219772 0.0744298 0.9999994 TRUE 4.06359e-06 ENSE00001734682_005 ENSE00001734682 005 9 116997816 116997985 + 63 54 53 G A 116997839 1773 24 TGGGGGAGGCTTCCAGAACCCACATGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235558 114235559 114235559 upstr_intron -40 -0.6190476 TGGGGGAGGCTTCCAGAACCCACATGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 430 201 0.9967537 0.9992124 0.997983 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1570994 0.055579 0.9412707 0.8916438 NA 0.1063392 NA FALSE NA 0 -0.321 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 13/57 rs368874398 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0032 A:0 CGT G,A 0.0002636 9:114235559 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 0.004957 0.14328 0.02252 0.252739 0.7938059 0.0744298 0.9999994 TRUE 0.000211289 ENSE00001734682_006 ENSE00001734682 006 9 116997816 116997985 + 63 54 53 C T 116997856 1774 41 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACTTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235575 114235576 114235576 upstr_intron -23 -0.3492063 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACTTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 329 32 0.9972152 0.939999 0.9686071 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1575608 -0.003634349 0.9412707 0.8916438 NA 0.07696324 NA FALSE NA 1 0.586 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 13/57 rs369582550 1 NA T:0.0007 T:0 CCT C,T 3.295e-05 9:114235576 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 2.525102 0.89204 0.38261 0.252739 0.7907638 0.434212 0.9999994 TRUE 1.62439e-05 ENSE00001734682_007 ENSE00001734682 007 9 116997816 116997985 + 63 54 53 G A 116997869 1775 54 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTATGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235588 114235589 114235589 upstr_intron -10 -0.1428571 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTATGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 43 460 1 0.9944587 0.9972294 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05082539 0.9412707 0.8916438 NA 0.1055855 NA FALSE NA 1 3.993 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 13/57 rs372617716 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGT G,A 4.118e-05 9:114235589 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 2.161761 0.92058 0.86407 0.252739 0.7952568 0.549107 0.9999994 TRUE 4.06062e-05 ENSE00001734682_008 ENSE00001734682 008 9 116997816 116997985 + 63 54 53 A G 116997884 1776 69 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAGCAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235603 114235604 114235604 exon 6 0.1111111 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAGCAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 111 55 0.8023452 0.9274602 0.8649027 0.8922629 0.9902785 0.8396543 0.9436334 NA NA -0.03730914 -0.01617314 0.9412707 0.8916438 NA -0.02674114 NA FALSE NA 1 0.319 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/58 1 NA AAC A,G 1.647e-05 9:114235604 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 synonymous_variant 0.973301 0.88501 0.58256 0.706298 0.6016608 0 0.9999994 TRUE 2.84239e-05 ENSE00001734682_009 ENSE00001734682 009 9 116997816 116997985 + 63 54 53 A G 116997887 1777 72 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAGGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235606 114235607 114235607 exon 9 0.1666667 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAGGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 654 179 0.981598 0.9591258 0.9703619 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1419437 0.01549244 0.9412707 0.8916438 NA 0.07871806 NA FALSE NA 1 1.696 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/58 COSM1169160 1 NA AAG A,G 8.236e-06 9:114235607 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 synonymous_variant 0.389832 0.89996 0.63219 0.706298 0.6037091 0 0.9999994 TRUE 4.06058e-06 ENSE00001734682_010 ENSE00001734682 010 9 116997816 116997985 + 63 54 53 T C 116997903 1778 88 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGCCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235622 114235623 114235623 exon 25 0.462963 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGCCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 141 13 0.9976414 1 0.9988207 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1579871 0.05636665 0.9412707 0.8916438 NA 0.1071768 NA FALSE NA 1 4.296 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/58 1 NA GTC T,C 8.236e-06 9:114235623 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 missense_variant 1.456304 0.89908 0.60165 0.706298 0.4590681 0 0.9999994 TRUE 4.06055e-06 ENSE00001734682_011 ENSE00001734682 011 9 116997816 116997985 + 63 54 53 A G 116997910 1779 95 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGGTCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235629 114235630 114235630 exon -23 0.5925926 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGGTCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 50 325 1 0.9985823 0.9992912 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05494898 0.9412707 0.8916438 NA 0.1076473 NA FALSE NA 1 6.975 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/58 1 NA GAT A,G 1.647e-05 9:114235630 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 missense_variant 3.602828 0.92832 0.93372 0.706298 0.9954198 0 0.9999994 TRUE 8.1211e-06 ENSE00001734682_012 ENSE00001734682 012 9 116997816 116997985 + 63 54 53 C G 116997912 1780 97 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATGCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235631 114235632 114235632 exon -21 0.6296296 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATGCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 94 341 1 0.9983082 0.9991541 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05467483 0.9412707 0.8916438 NA 0.1075102 NA FALSE NA 0.02 -0.2 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/58 1 NA TCC C,G 8.236e-06 9:114235632 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 missense_variant -0.895855 0.17395 0.08201 0.706298 0.2830227 0 0.9999994 TRUE 4.06055e-06 ENSE00001734682_013 ENSE00001734682 013 9 116997816 116997985 + 63 54 53 C T 116997913 1781 98 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCTCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235632 114235633 114235633 exon -20 0.6481481 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCTCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 204 27 1 0.9940968 0.9970484 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05046343 0.9412707 0.8916438 NA 0.1054045 NA FALSE NA 0.045 2.517 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/58 1 NA CCC C,T 8.236e-06 9:114235633 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 missense_variant 2.859745 0.46064 0.15034 0.706298 0.9459664 0 0.9999994 TRUE 4.06058e-06 ENSE00001734682_015 ENSE00001734682 015 9 116997816 116997985 + 63 54 53 A G 116997917 1783 102 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGGTTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235636 114235637 114235637 exon -16 0.7222222 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGGTTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 864 85 0.9329711 0.9507329 0.941852 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.09331673 0.007099542 0.9412707 0.8916438 NA 0.05020813 NA FALSE NA 1 2.276 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/58 1 NA GAT A,G 8.236e-06 9:114235637 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 synonymous_variant 1.137434 0.91717 0.7398 0.706298 0.7582017 0 0.9999994 TRUE 4.06055e-06 ENSE00001734682_018 ENSE00001734682 018 9 116997816 116997985 + 63 54 53 C T 116997940 1786 125 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGTATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235659 114235660 114235660 downstr_intron 8 1.153846 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGTATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 274 320 0.9987922 0.999881 0.9993366 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1591379 0.05624763 0.9412707 0.8916438 NA 0.1076928 NA FALSE NA 0.081 0.527 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL27A1 HGNC 22986 ENST00000494090 14/57 1 NA GCA C,T 8.236e-06 9:114235660 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 splice_region_variant 1.348957 0.21738 0.12741 0.120566 0.6605622 0.308374 0.9999994 TRUE 4.06078e-06 ENSE00001734682_019 ENSE00001734682 019 9 116997816 116997985 + 63 54 53 A G 116997941 1787 126 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCGTGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235660 114235661 114235661 downstr_intron 9 1.173077 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCGTGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 100 172 0.9875099 0.9990794 0.9932946 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1478556 0.05544604 0.9412707 0.8916438 NA 0.1016508 NA FALSE NA 0 -0.611 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/57 1 NA CAT A,G 8.236e-06 9:114235661 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 1.349046 0.16541 0.05151 0.120566 0.7876724 0.305065 0.9999994 TRUE 4.06072e-06 ENSE00001734682_020 ENSE00001734682 020 9 116997816 116997985 + 63 54 53 G A 116997943 1788 128 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATAAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235662 114235663 114235663 downstr_intron 11 1.211538 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATAAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 193 55 1 1 1 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05636665 0.9412707 0.8916438 NA 0.1083562 NA FALSE NA 0 -0.102 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/57 rs547405634 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGA G,A 8.236e-06 9:114235663 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 0.525474 0.25125 0.10203 0.120566 0.6525308 0.0908282 0.9999994 TRUE 4.06091e-06 ENSE00001734682_021 ENSE00001734682 021 9 116997816 116997985 + 63 54 53 C T 116997957 1789 142 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCTCCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235676 114235677 114235677 downstr_intron 25 1.480769 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCTCCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 79 32 1 1 1 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05636665 0.9412707 0.8916438 NA 0.1083562 NA FALSE NA 0 -0.334 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/57 1 NA CCC C,T 8.237e-06 9:114235677 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 0.199418 0.14175 0.0621 0.078448 0.7976234 0.0693662 0.9999994 TRUE 8.13266e-06 ENSE00001734682_022 ENSE00001734682 022 9 116997816 116997985 + 63 54 53 C T 116997958 1790 143 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCTCCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235677 114235678 114235678 downstr_intron 26 1.5 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCTCCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 27 86 1 0.9869042 0.9934521 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.04327081 0.9412707 0.8916438 NA 0.1018082 NA FALSE NA 0 -0.924 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/57 1 NA CCC C,T 1.647e-05 9:114235678 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant -0.164227 0.16441 0.04341 0.078448 0.5729245 0.0693662 0.9999994 TRUE 4.066e-06 ENSE00001734682_023 ENSE00001734682 023 9 116997816 116997985 + 63 54 53 C T 116997959 1791 144 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCTCTGCCCCTGCCCCTGCCCTGCTGTTC 114235535 114235705 114235678 114235679 114235679 downstr_intron 27 1.519231 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCTCTGCCCCTGCCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 292 347 0.9981533 0.9833612 0.9907572 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.158499 0.03972781 0.9412707 0.8916438 NA 0.09911338 NA FALSE NA 0 0.543 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/57 1 NA CCC C,T 8.237e-06 9:114235679 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 0.162134 0.20764 0.16638 0.06567 0.6889482 0.0693662 0.9999994 TRUE 4.0662e-06 ENSE00001734682_026 ENSE00001734682 026 9 116997816 116997985 + 63 54 53 C G 116997969 1794 154 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGGCCCTGCCCTGCTGTTC 114235535 114235705 114235688 114235689 114235689 downstr_intron 37 1.711538 TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGGCCCTGCCCTGCTGTTC TGGGGGAGGCTTCCAGAACCCACGTGGCCTCCATTGTAACCTTCTTTGCTGGTGTGTACTTAGGGTGAACAAGGGGTTCCAGGTGTGTCAGGAGATCCCGGATTCCAAGGAGACAAGGTAATTGCATGAGATTTTCCCCTCCCCCTGCCCCTGCCCCTGCCCTGCTGTTC mutant NA NA NA NA NA 62 764 1 0.9968452 0.9984226 0.8922629 0.9902785 0.8396543 0.9436334 NA NA 0.1603457 0.05321184 0.9412707 0.8916438 NA 0.1067788 NA FALSE NA 0 -1.835 . intron_variant&NMD_transcript_variant MODIFIER COL27A1 HGNC 22986 ENST00000494090 14/57 1 NA GCC C,G 2.471e-05 9:114235689 COL27A1 HGNC Symbol protein_coding 156951 ENSG00000196739 ENSE00003654209 intron_variant 0.882243 0.26433 0.03139 0.06567 0.736296 0.0694298 0.9999994 TRUE 2.44103e-05 ENSE00001734773_000 ENSE00001734773 000 10 102268732 102268901 - 32 96 42 NA NA NA NA NA TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 NA NA NA NA NA NA TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG natural NA NA NA NA NA 97 918 0.9072387 0.999501 0.9533698 NA NA 0.9072387 0.999501 NA NA 0 0 NA 0.9533698 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003497222 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001734773_003 ENSE00001734773 003 10 102268732 102268901 - 32 96 42 G T 102268751 2338 151 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCACCACTACCCAACCCTGGAG 100508974 100509144 100508993 100508994 100508994 downstr_intron 13 1.419355 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCACCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 180 137 1 1 1 NA NA 0.9072387 0.999501 NA NA 0.09276127 0.0004990307 NA 0.9533698 NA 0.04663015 NA FALSE NA 0.001 0.008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003497222 intron_variant -0.235534 0.17321 0.23642 0 0.6289307 0.0774627 8.657011e-06 FALSE 2.43932e-05 ENSE00001734773_025 ENSE00001734773 025 10 102268732 102268901 - 32 96 42 A T 102268885 2360 17 CTCCAGGGTTGGGTAGTGGGGGTGCTGCTCACCTGTGACTTGGATCCCAGGGTCATTGGCACATTCAAGTTATTCAGATCCCAAATGAAGATTTCAGAATCGCTGGCCCCTGAAGCCAGGAGGTTGCCCTGTATGAATAAAAAGTGTTTGGAGTCATACCACCCTAGGAA 100508974 100509144 100509127 100509128 100509128 upstr_intron -26 -0.5952381 TTCCTAGGGTGGTATGACTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 595 231 1 1 1 NA NA 0.9072387 0.999501 NA NA 0.09276127 0.0004990307 NA 0.9533698 NA 0.04663015 NA FALSE NA 0.02 0.22 NA NA NA SEC31B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC31B NA NA NA ENSG00000075826 ENSE00003497222 intron_variant -0.010017 0.36507 0.39071 0.055872 0.7144851 0.0602045 1.300616e-24 FALSE 4.0797e-06 ENSE00001735670_000 ENSE00001735670 000 16 20648654 20648823 - 39 81 50 NA NA NA NA NA ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 NA NA NA NA NA NA ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT natural 36 60 0.9582316 0.9336565 0.945944 846 615 0.9473321 0.9824969 0.9649145 0.9582316 0.9336565 0.9473321 0.9824969 0 0 0 0 0.945944 0.9649145 0 0 0 FALSE FALSE NA NA NA NA NA ACSM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSM1 NA NA NA ENSG00000166743 ENSE00003592835 NA NA NA NA NA NA NA 4.367484e-09 FALSE NA ENSE00001735670_BRK ENSE00001735670 BRK 16 20648654 20648823 - 39 81 50 A,G; T,T NA NA NA ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACTTGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGCCCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 NA NA NA NA NA NA ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACTTGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGCCCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT control NA NA NA NA NA 207 381 0.07380348 0.06227668 0.06804008 0.9582316 0.9336565 0.9473321 0.9824969 NA NA -0.8735287 -0.9202202 0.945944 0.9649145 NA -0.8968745 NA TRUE NA NA NA NA NA NA ACSM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSM1 NA NA NA ENSG00000166743 ENSE00003592835 NA NA NA NA NA NA NA 4.367484e-09 FALSE NA ENSE00001735738_000 ENSE00001735738 000 22 38282722 38282891 + 50 81 39 NA NA NA NA NA CCCTGCTCCTCCACCTGGCTGCTCTTCCCTGACTGTGCTTTCCCCCACAGGACATGATCCACATCGCGGACACCAAGGTCGCCAGGCGTTATGGGGATTTCTTCATCCGTCAGATCCACAAATTTGAGGAGGTGAGAGATCTGAGAGAAGAGGGGTTTGTTGGCTCAGGA 37886714 37886884 NA NA NA NA NA NA CCCTGCTCCTCCACCTGGCTGCTCTTCCCTGACTGTGCTTTCCCCCACAGGACATGATCCACATCGCGGACACCAAGGTCGCCAGGCGTTATGGGGATTTCTTCATCCGTCAGATCCACAAATTTGAGGAGGTGAGAGATCTGAGAGAAGAGGGGTTTGTTGGCTCAGGA CCCTGCTCCTCCACCTGGCTGCTCTTCCCTGACTGTGCTTTCCCCCACAGGACATGATCCACATCGCGGACACCAAGGTCGCCAGGCGTTATGGGGATTTCTTCATCCGTCAGATCCACAAATTTGAGGAGGTGAGAGATCTGAGAGAAGAGGGGTTTGTTGGCTCAGGA natural 18 10 1 1 1 199 560 0.9763014 1 0.9881507 1 1 0.9763014 1 0 0 0 0 1 0.9881507 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003702410 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001735786_000 ENSE00001735786 000 9 4567628 4567797 + 41 99 30 NA NA NA NA NA CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 NA NA NA NA NA NA CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC natural NA NA NA NA NA 2355 1259 0.9793559 0.9906247 0.9849903 NA NA 0.9793559 0.9906247 NA NA 0 0 NA 0.9849903 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00001735786 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001735786_014 ENSE00001735786 014 9 4567628 4567797 + 41 99 30 C A 4567704 132 77 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGAGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567703 4567704 4567704 exon 36 0.3636364 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGAGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 186 17 0.989069 0.990581 0.989825 NA NA 0.9793559 0.9906247 NA NA 0.009713156 -4.363163e-05 NA 0.9849903 NA 0.004834762 NA FALSE NA 0 -1.121 NA NA NA SLC1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC1A1 NA NA NA ENSG00000106688 ENSE00001735786 missense_variant -0.81716 0.19409 0.05129 0.706298 0.7815936 0 0.001271167 FALSE 8.14458e-06 ENSE00001735786_BRK ENSE00001735786 BRK 9 4567628 4567797 + 41 99 30 A,G; T,T NA NA NA CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCTTTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGCCACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 NA NA NA NA NA NA CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCTTTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGCCACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC control NA NA NA NA NA 1454 686 0.01261414 0.004026489 0.008320314 NA NA 0.9793559 0.9906247 NA NA -0.9667417 -0.9865982 NA 0.9849903 NA -0.9766699 NA TRUE NA NA NA NA NA NA SLC1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC1A1 NA NA NA ENSG00000106688 ENSE00001735786 NA NA NA NA NA NA NA 0.001271167 FALSE NA ENSE00001735869_000 ENSE00001735869 000 16 69965358 69965527 + 54 72 44 NA NA NA NA NA AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 NA NA NA NA NA NA AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC natural NA NA NA NA NA 403 240 0.8461652 0.8913067 0.8687359 NA NA 0.8461652 0.8913067 NA NA 0 0 NA 0.8687359 NA 0 NA FALSE NA NA NA NA NA NA WWP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WWP2 NA NA NA ENSG00000198373 ENSE00003694478 NA NA NA NA NA NA NA 0.9779024 TRUE NA ENSE00001735869_001 ENSE00001735869 001 16 69965358 69965527 + 54 72 44 C T 69965379 2370 22 AACAGATGACCACTTGAGGCTTGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931475 69931476 69931476 upstr_intron -33 -0.5925926 AACAGATGACCACTTGAGGCTTGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 72 109 1 0.9639124 0.9819562 NA NA 0.8461652 0.8913067 NA NA 0.1538348 0.07260564 NA 0.8687359 NA 0.1132202 NA FALSE NA 0 -1.193 . intron_variant MODIFIER WWP2 HGNC 16804 ENST00000356003 13/22 1 NA TCG C,T 2.471e-05 16:69931476 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 intron_variant 0.388343 0.14157 0.02087 0.163922 0.4003909 0.0950874 0.9779024 TRUE 1.63717e-05 ENSE00001735869_002 ENSE00001735869 002 16 69965358 69965527 + 54 72 44 G A 69965380 2371 23 AACAGATGACCACTTGAGGCTCAATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931476 69931477 69931477 upstr_intron -32 -0.5740741 AACAGATGACCACTTGAGGCTCAATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 59 27 0.8664502 0.9985779 0.932514 NA NA 0.8461652 0.8913067 NA NA 0.020285 0.1072712 NA 0.8687359 NA 0.06377809 NA FALSE NA 0 -3.644 . intron_variant MODIFIER WWP2 HGNC 16804 ENST00000356003 13/22 rs551668579 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 1.647e-05 16:69931477 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 intron_variant -0.677504 0.05669 0.01031 0.163922 0.629253 0.0954646 0.9779024 TRUE 1.63627e-05 ENSE00001735869_003 ENSE00001735869 003 16 69965358 69965527 + 54 72 44 T C 69965389 2372 32 AACAGATGACCACTTGAGGCTCGATTTAAAGCTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931485 69931486 69931486 upstr_intron -23 -0.4074074 AACAGATGACCACTTGAGGCTCGATTTAAAGCTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 66 16 1 1 1 NA NA 0.8461652 0.8913067 NA NA 0.1538348 0.1086933 NA 0.8687359 NA 0.1312641 NA FALSE NA 0 0.034 . intron_variant MODIFIER WWP2 HGNC 16804 ENST00000356003 13/22 rs202118790 1 C:0.0014 C:0 C:0 NA C:0.0069 C:0 C:0 GTT T,C 9.061e-05 16:69931486 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 intron_variant 0.238382 0.15225 0.15181 0.163922 0.4546537 0.0954646 0.9779024 TRUE 4.0796e-05 ENSE00001735869_004 ENSE00001735869 004 16 69965358 69965527 + 54 72 44 T C 69965394 2373 37 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTCTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931490 69931491 69931491 upstr_intron -18 -0.3148148 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTCTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 12 176 1 0.9927665 0.9963832 NA NA 0.8461652 0.8913067 NA NA 0.1538348 0.1014597 NA 0.8687359 NA 0.1276473 NA FALSE NA 0 -0.104 . intron_variant MODIFIER WWP2 HGNC 16804 ENST00000356003 13/22 1 NA TTT T,C 8.237e-06 16:69931491 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 intron_variant -0.100553 0.21491 0.03203 0.163922 0.5078756 0.153669 0.9779024 TRUE 1.63205e-05 ENSE00001735869_005 ENSE00001735869 005 16 69965358 69965527 + 54 72 44 T G 69965401 2374 44 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTGTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931497 69931498 69931498 upstr_intron -11 -0.1851852 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTGTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 597 767 1 0.9924575 0.9962288 NA NA 0.8461652 0.8913067 NA NA 0.1538348 0.1011508 NA 0.8687359 NA 0.1274928 NA FALSE NA 0 1.074 NA NA NA WWP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:69931498 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 intron_variant 1.265217 0.38884 0.07677 0.295142 0.7586972 0.43933 0.9779024 TRUE 4.07183e-06 ENSE00001735869_007 ENSE00001735869 007 16 69965358 69965527 + 54 72 44 T C 69965404 2376 47 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTCTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931500 69931501 69931501 upstr_intron -8 -0.1296296 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTCTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 388 546 0.9948252 0.9964309 0.9956281 NA NA 0.8461652 0.8913067 NA NA 0.1486601 0.1051242 NA 0.8687359 NA 0.1268921 NA FALSE NA 0.007 0.204 . splice_region_variant&intron_variant LOW WWP2 HGNC 16804 ENST00000356003 13/22 rs375270394 1 NA C:0.0007 C:0 TTT T,C 8.236e-06 16:69931501 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 splice_region_variant 0.50598 0.23901 0.02614 0.295142 0.6511779 0.491482 0.9779024 TRUE 2.44234e-05 ENSE00001735869_008 ENSE00001735869 008 16 69965358 69965527 + 54 72 44 C G 69965409 2377 52 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTGAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931505 69931506 69931506 upstr_intron -3 -0.03703704 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTGAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 54 247 0.2373655 0.03820556 0.1377855 NA NA 0.8461652 0.8913067 NA NA -0.6087997 -0.8531012 NA 0.8687359 NA -0.7309504 NA TRUE NA 0.066 0.559 . splice_region_variant&intron_variant LOW WWP2 HGNC 16804 ENST00000356003 13/22 1 NA TCA C,G 8.236e-06 16:69931506 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 splice_region_variant 1.896047 0.97979 0.78388 0.295142 0.9197394 0.618068 0.9779024 TRUE 4.35643e-06 ENSE00001735869_010 ENSE00001735869 010 16 69965358 69965527 + 54 72 44 C T 69965420 2379 63 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCTCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931516 69931517 69931517 exon 9 0.125 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCTCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 213 82 0.9981677 1 0.9990838 NA NA 0.8461652 0.8913067 NA NA 0.1520025 0.1086933 NA 0.8687359 NA 0.1303479 NA FALSE NA 0 -1.806 . synonymous_variant LOW WWP2 HGNC 16804 ENST00000356003 14/23 1 NA CCC C,T 8.236e-06 16:69931517 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 synonymous_variant 2.303095 0.86974 0.07057 0.732398 0.8178774 0 0.9779024 TRUE 4.06141e-06 ENSE00001735869_012 ENSE00001735869 012 16 69965358 69965527 + 54 72 44 G A 69965433 2381 76 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACATGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931529 69931530 69931530 exon 22 0.3055556 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACATGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 63 24 0.8857449 0.9033842 0.8945645 NA NA 0.8461652 0.8913067 NA NA 0.03957975 0.01207744 NA 0.8687359 NA 0.02582859 NA FALSE NA 1 6.795 . missense_variant MODERATE WWP2 HGNC 16804 ENST00000356003 14/23 1 deleterious(0.02) possibly_damaging(0.895) NA CGT G,A 8.236e-06 16:69931530 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 missense_variant 6.734879 0.99174 0.96602 0.744818 0.9991598 0 0.9779024 TRUE 8.12196e-06 ENSE00001735869_018 ENSE00001735869 018 16 69965358 69965527 + 54 72 44 A G 69965457 2387 100 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGGCGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931553 69931554 69931554 exon -27 0.6388889 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGGCGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 193 32 0.9976094 1 0.9988047 NA NA 0.8461652 0.8913067 NA NA 0.1514442 0.1086933 NA 0.8687359 NA 0.1300687 NA FALSE NA 1 9.282 . missense_variant MODERATE WWP2 HGNC 16804 ENST00000356003 14/23 1 deleterious(0.03) possibly_damaging(0.905) NA GAC A,G 8.236e-06 16:69931554 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 missense_variant 5.1526 0.99361 0.99651 0.744818 0.9932044 0 0.9779024 TRUE 4.06088e-06 ENSE00001735869_019 ENSE00001735869 019 16 69965358 69965527 + 54 72 44 C T 69965458 2388 101 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGATGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931554 69931555 69931555 exon -26 0.6527778 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGATGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 75 46 1 1 1 NA NA 0.8461652 0.8913067 NA NA 0.1538348 0.1086933 NA 0.8687359 NA 0.1312641 NA FALSE NA 1 7.77 . missense_variant MODERATE WWP2 HGNC 16804 ENST00000356003 14/23 1 deleterious(0) probably_damaging(0.995) NA ACG C,T 1.647e-05 16:69931555 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 missense_variant 7.650891 0.99522 0.99456 0.744818 0.9992896 0 0.9779024 TRUE 1.62435e-05 ENSE00001735869_020 ENSE00001735869 020 16 69965358 69965527 + 54 72 44 G A 69965459 2389 102 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACACTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931555 69931556 69931556 exon -25 0.6666667 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACACTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 138 90 0.998801 0.9991498 0.9989754 NA NA 0.8461652 0.8913067 NA NA 0.1526358 0.107843 NA 0.8687359 NA 0.1302394 NA FALSE NA 0 -6.617 . synonymous_variant LOW WWP2 HGNC 16804 ENST00000356003 14/23 1 NA CGC G,A 8.236e-06 16:69931556 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 synonymous_variant 1.954243 0.20259 0.02553 0.744818 0.8721865 0 0.9779024 TRUE 8.12196e-06 ENSE00001735869_024 ENSE00001735869 024 16 69965358 69965527 + 54 72 44 A G 69965492 2393 135 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCGTGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931588 69931589 69931589 downstr_intron 9 1.209302 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCGTGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 43 28 0.9854284 1 0.9927142 NA NA 0.8461652 0.8913067 NA NA 0.1392633 0.1086933 NA 0.8687359 NA 0.1239783 NA FALSE NA 0 -1.938 . intron_variant MODIFIER WWP2 HGNC 16804 ENST00000356003 14/22 1 NA CAT A,G 2.471e-05 16:69931589 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 non_coding_transcript_exon_variant 0.375664 0.18812 0.0716 0.21705 0.5019255 0.157936 0.9779024 TRUE 1.21845e-05 ENSE00001735869_025 ENSE00001735869 025 16 69965358 69965527 + 54 72 44 G A 69965497 2394 140 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTACCCGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931593 69931594 69931594 downstr_intron 14 1.325581 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTACCCGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 265 10 0.9536683 0.9877017 0.970685 NA NA 0.8461652 0.8913067 NA NA 0.1075031 0.09639497 NA 0.8687359 NA 0.101949 NA FALSE NA 0 1.326 . intron_variant MODIFIER WWP2 HGNC 16804 ENST00000356003 14/22 1 NA TGC G,A 8.236e-06 16:69931594 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 non_coding_transcript_exon_variant 0.46026 0.21408 0.04027 0.21705 0.7836317 0.0989383 0.9779024 TRUE NA ENSE00001735869_026 ENSE00001735869 026 16 69965358 69965527 + 54 72 44 C T 69965500 2395 143 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCTGAAACCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931596 69931597 69931597 downstr_intron 17 1.395349 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCTGAAACCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 64 45 1 1 1 NA NA 0.8461652 0.8913067 NA NA 0.1538348 0.1086933 NA 0.8687359 NA 0.1312641 NA FALSE NA 0 -1.162 . intron_variant MODIFIER WWP2 HGNC 16804 ENST00000356003 14/22 1 NA CCG C,T 8.236e-06 16:69931597 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 non_coding_transcript_exon_variant -0.283757 0.09121 0.00169 0.156188 0.7911438 0.0476178 0.9779024 TRUE 1.62444e-05 ENSE00001735869_028 ENSE00001735869 028 16 69965358 69965527 + 54 72 44 C T 69965505 2397 148 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAATCAGTGGCAGGCCGACGCCCTCC 69931454 69931624 69931601 69931602 69931602 downstr_intron 22 1.511628 AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAATCAGTGGCAGGCCGACGCCCTCC AACAGATGACCACTTGAGGCTCGATTTAAAGTTCTTTTCTTTTTTTTTTTTCAGTCAAATGCCCTACCTAGCCACGTGAAGATCAGCGTTTCCAGGCAGACGCTTTTCGAAGATTCCTTCCAACAGGTTAGATCATGGTGCCCGAAACCAGTGGCAGGCCGACGCCCTCC mutant NA NA NA NA NA 59 27 0.8408215 0.9292764 0.885049 NA NA 0.8461652 0.8913067 NA NA -0.005343641 0.03796967 NA 0.8687359 NA 0.01631301 NA FALSE NA 0 -0.534 . intron_variant MODIFIER WWP2 HGNC 16804 ENST00000356003 14/22 1 NA ACC C,T 8.236e-06 16:69931602 WWP2 HGNC Symbol protein_coding 179435 ENSG00000198373 ENSE00003694478 non_coding_transcript_exon_variant 0.496925 0.21619 0.01289 0.156188 0.7322769 0.0476178 0.9779024 TRUE 4.06091e-06 ENSE00001737253_000 ENSE00001737253 000 1 70573382 70573551 + 53 75 42 NA NA NA NA NA TCTCAGTATGGCATTTGCATGCATTTCTTTTATCTGTCTTACCTGAAGGATCTTATCACCAGGCTGCAGTAGGTTTGATGCTGGCCCATCAGGCTGAACCCTAGTAACAAAGATACCCTATAAGTCAGAAGTAACAGAGGTTAGGATTCTATTACCAAGAACCAGGCCTA 70107698 70107868 NA NA NA NA NA NA TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA natural NA NA NA NA NA 344 2091 0.9987975 0.9951762 0.9969868 NA NA 0.9987975 0.9951762 NA NA 0 0 NA 0.9969868 NA 0 NA FALSE NA NA NA NA NA NA LRRC7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRC7 NA NA NA ENSG00000033122 ENSE00001737253 NA NA NA NA NA NA NA 0.9999985 TRUE NA ENSE00001737253_002 ENSE00001737253 002 1 70573382 70573551 + 53 75 42 A C 70573473 2146 92 TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCCTCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA 70107698 70107868 70107789 70107790 70107790 exon -37 0.52 TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCCTCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA mutant NA NA NA NA NA 284 727 0.8 0.9951836 0.8975918 NA NA 0.9987975 0.9951762 NA NA -0.1987975 7.454793e-06 NA 0.9969868 NA -0.09939502 NA FALSE NA 0.998 0.766 . synonymous_variant&NMD_transcript_variant LOW LRRC7 HGNC 18531 ENST00000588515 1/6 1 NA CAT A,C 8.236e-06 1:70107790 LRRC7 HGNC Symbol protein_coding 583547 ENSG00000033122 ENSE00001737253 synonymous_variant 0.346334 0.97377 0.72973 0.500041 0.7132539 0 0.9999985 TRUE 4.06587e-06 ENSE00001737253_006 ENSE00001737253 006 1 70573382 70573551 + 53 75 42 G A 70573530 2150 149 TCTCAGTATGGCATTTGCATGTATTTCTTTTATCTGTCTTACCTGAAGGATCTTATCACCAGGCTGCAGTAGGTTTGATGCTGGCCCATCAGGCTGAACCCTAGTAACAAAGATACCCTATAAGTCAGAAGTAACAGAGGTTAGGATTCTATTACCAAGAACCAGGCCTA 70107698 70107868 70107846 70107847 70107847 downstr_intron 21 1.512195 TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATACATGCAAATGCCATACTGAGA TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA mutant NA NA NA NA NA 690 14 0.9950043 0.8678957 0.93145 NA NA 0.9987975 0.9951762 NA NA -0.003793221 -0.1272805 NA 0.9969868 NA -0.06553684 NA FALSE NA 0 0.198 . intron_variant&NMD_transcript_variant MODIFIER LRRC7 HGNC 18531 ENST00000588515 1/5 1 NA TGC G,A 1.647e-05 1:70107847 LRRC7 HGNC Symbol protein_coding 583547 ENSG00000033122 ENSE00001737253 intron_variant 1.869148 0.14817 0.01592 0.061011 0.7294372 0.0521688 0.9999985 TRUE 1.64163e-05 ENSE00001737253_007 ENSE00001737253 007 1 70573382 70573551 + 53 75 42 A G 70573532 2151 151 TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCGTGCAAATGCCATACTGAGA 70107698 70107868 70107848 70107849 70107849 downstr_intron 23 1.560976 TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCGTGCAAATGCCATACTGAGA TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA mutant NA NA NA NA NA 488 15 0.9935875 1 0.9967937 NA NA 0.9987975 0.9951762 NA NA -0.005210001 0.004823832 NA 0.9969868 NA -0.0001930845 NA FALSE NA 0 0.44 . intron_variant&NMD_transcript_variant MODIFIER LRRC7 HGNC 18531 ENST00000588515 1/5 1 NA CAT A,G 2.471e-05 1:70107849 LRRC7 HGNC Symbol protein_coding 583547 ENSG00000033122 ENSE00001737253 intron_variant 1.955647 0.26769 0.11372 0.061011 0.91921 0.0879995 0.9999985 TRUE 8.20472e-06 ENSE00001737253_BRK ENSE00001737253 BRK 1 70573382 70573551 + 53 75 42 A,G; T,T NA NA NA TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATTTGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGCCAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA 70107698 70107868 NA NA NA NA NA NA TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATTTGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGCCAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA TAGGCCTGGTTCTTGGTAATAGAATCCTAACCTCTGTTACTTCTGACTTATAGGGTATCTTTGTTACTAGGGTTCAGCCTGATGGGCCAGCATCAAACCTACTGCAGCCTGGTGATAAGATCCTTCAGGTAAGACAGATAAAAGAAATGCATGCAAATGCCATACTGAGA control NA NA NA NA NA 684 1022 0.196496 0.01168907 0.1040925 NA NA 0.9987975 0.9951762 NA NA -0.8023015 -0.9834871 NA 0.9969868 NA -0.8928943 NA TRUE NA NA NA NA NA NA LRRC7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRC7 NA NA NA ENSG00000033122 ENSE00001737253 NA NA NA NA NA NA NA 0.9999985 TRUE NA ENSE00001737387_000 ENSE00001737387 000 10 18824988 18825157 + 42 96 32 NA NA NA NA NA ACTGGATTATGCTGTATATAGAGATAACTTACTGGAGGACACTGAGCCAGTTTATCAGCTGCTACCATCTGGACGTTGAGGTGTTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 NA NA NA NA NA NA GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT natural 17 19 1 0.9977024 0.9988512 1812 1562 0.9891743 0.9703498 0.9797621 1 0.9977024 0.9891743 0.9703498 0 0 0 0 0.9988512 0.9797621 0 0 0 FALSE FALSE NA NA NA NA NA CACNB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNB2 NA NA NA ENSG00000165995 ENSE00001737387 NA NA NA NA NA NA NA 0.001820338 FALSE NA ENSE00001737461_000 ENSE00001737461 000 13 113741977 113742146 + 44 93 33 NA NA NA NA NA TGTAAGAGGCCAGGGGTAGGGTGGGTGGCCCACCTGGACGATGTAGACCTCCTCGCGCGCGTTGTACCAGATCTCGAACTTCTTAGCATCTCCCTTCACGTTCTCCGTAATGCCAACGGCAGCCATCTGCGAGCAGAGAGTGGAGATGGGGTTCGCGTGCACAGTGAACC 113087662 113087832 NA NA NA NA NA NA GGTTCACTGTGCACGCGAACCCCATCTCCACTCTCTGCTCGCAGATGGCTGCCGTTGGCATTACGGAGAACGTGAAGGGAGATGCTAAGAAGTTCGAGATCTGGTACAACGCGCGCGAGGAGGTCTACATCGTCCAGGTGGGCCACCCACCCTACCCCTGGCCTCTTACA GGTTCACTGTGCACGCGAACCCCATCTCCACTCTCTGCTCGCAGATGGCTGCCGTTGGCATTACGGAGAACGTGAAGGGAGATGCTAAGAAGTTCGAGATCTGGTACAACGCGCGCGAGGAGGTCTACATCGTCCAGGTGGGCCACCCACCCTACCCCTGGCCTCTTACA natural 25 16 0.9788024 0.9951093 0.9869559 395 1166 0.9920804 0.9985799 0.9953301 0.9788024 0.9951093 0.9920804 0.9985799 0 0 0 0 0.9869559 0.9953301 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00001737461 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001737461_BRK ENSE00001737461 BRK 13 113741977 113742146 + 44 93 33 A,G; T,T NA NA NA GGTTCACTGTGCACGCGAACCCCATCTCCACTCTCTGCTCGCTTATGGCTGCCGTTGGCATTACGGAGAACGTGAAGGGAGATGCTAAGAAGTTCGAGATCTGGTACAACGCGCGCGAGGAGGTCTACATCGTCCAGCCGGGCCACCCACCCTACCCCTGGCCTCTTACA 113087662 113087832 NA NA NA NA NA NA GGTTCACTGTGCACGCGAACCCCATCTCCACTCTCTGCTCGCTTATGGCTGCCGTTGGCATTACGGAGAACGTGAAGGGAGATGCTAAGAAGTTCGAGATCTGGTACAACGCGCGCGAGGAGGTCTACATCGTCCAGCCGGGCCACCCACCCTACCCCTGGCCTCTTACA GGTTCACTGTGCACGCGAACCCCATCTCCACTCTCTGCTCGCAGATGGCTGCCGTTGGCATTACGGAGAACGTGAAGGGAGATGCTAAGAAGTTCGAGATCTGGTACAACGCGCGCGAGGAGGTCTACATCGTCCAGGTGGGCCACCCACCCTACCCCTGGCCTCTTACA control NA NA NA NA NA 27 168 0 0 0 0.9788024 0.9951093 0.9920804 0.9985799 NA NA -0.9920804 -0.9985799 0.9869559 0.9953301 NA -0.9953301 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001737461 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001737467_000 ENSE00001737467 000 X 9677235 9677404 + 53 75 42 NA NA NA NA NA TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCAGAACGAGGTCAACGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGGTAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC 9709194 9709364 NA NA NA NA NA NA TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCAGAACGAGGTCAACGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGGTAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCAGAACGAGGTCAACGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGGTAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC natural 40 38 0.9983002 0.9948432 0.9965717 819 521 0.9942327 0.9949261 0.9945794 0.9983002 0.9948432 0.9942327 0.9949261 0 0 0 0 0.9965717 0.9945794 0 0 0 FALSE FALSE NA NA NA NA NA TBL1X NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBL1X NA NA NA ENSG00000101849 ENSE00001737467 NA NA NA NA NA NA NA 0.9985003 TRUE NA ENSE00001737467_003 ENSE00001737467 003 X 9677235 9677404 + 53 75 42 C T 9677299 67 65 TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGGTAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC 9709194 9709364 9709258 9709259 9709259 exon 12 0.16 TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCAGAACGAGGTCAATGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGGTAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCAGAACGAGGTCAACGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGGTAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC mutant NA NA NA NA NA 246 18 1 1 1 0.9983002 0.9948432 0.9942327 0.9949261 NA NA 0.005767343 0.005073892 0.9965717 0.9945794 NA 0.005420617 NA FALSE NA 0.924 -0.056 . synonymous_variant LOW TBL1X HGNC 11585 ENST00000424279 13/17 1 NA ACG C,T 8.236e-06 X:9709259 TBL1X HGNC Symbol protein_coding 277742 ENSG00000101849 ENSE00001737467 synonymous_variant 1.936282 0.73997 0.06013 0 0.9417442 0 0.9985003 TRUE 1.68292e-05 ENSE00001737467_BRK ENSE00001737467 BRK X 9677235 9677404 + 53 75 42 A,G; T,T NA NA NA TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCTTAACGAGGTCAACGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGCCAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC 9709194 9709364 NA NA NA NA NA NA TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCTTAACGAGGTCAACGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGCCAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC TCATCTACTCACAGGCCCTGATGTCTTTTTCACACTCTTCTGCTCTCTTTCAGAACGAGGTCAACGCCATCAAATGGGATCCGTCTGGAATGTTGCTGGCATCCTGCTCGGATGACATGACATTGAAGGTAGAGTCGGCATGGCAAGGGGTGGGCTGTTTAATCCTAGAC control NA NA NA NA NA 597 24 0 0.02150009 0.01075004 0.9983002 0.9948432 0.9942327 0.9949261 NA NA -0.9942327 -0.973426 0.9965717 0.9945794 NA -0.9838293 NA TRUE NA NA NA NA NA NA TBL1X NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBL1X NA NA NA ENSG00000101849 ENSE00001737467 NA NA NA NA NA NA NA 0.9985003 TRUE NA ENSE00001739078_000 ENSE00001739078 000 9 35398157 35398326 + 51 78 41 NA NA NA NA NA ATAAAGGGAAAATACAGTGACTCCCAAACCCTAAGACCTACCTCCTTGCCTCCCATGGCCTCAAACATTTTCTCCAGCTGGACCCTCAGTTGCTGCACGTTGTTCATCAGGATGCAGGGCTTTGGGGACAGATGTAGCTGTTGAGTCTTGGCTCCTTTCAGCATAGGACC 35398159 35398329 NA NA NA NA NA NA GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT natural 640 1103 0.8517238 0.8372989 0.8445113 624 1176 0.9549685 0.8780063 0.9164874 0.8517238 0.8372989 0.9549685 0.8780063 0 0 0 0 0.8445113 0.9164874 0 0 0 FALSE FALSE NA NA NA NA NA UNC13B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13B NA NA NA ENSG00000198722 ENSE00003589037 NA NA NA NA NA NA NA 6.603618e-05 FALSE NA ENSE00001739078_002 ENSE00001739078 002 9 35398157 35398326 + 51 78 41 G A 35398175 406 19 ATAAAGGGAAAATACAGTGACTCCCAAACCCTAAGACCTACCTCCTTGCCTCCCATGGCCTCAAACATTTTCTCCAGCTGGACCCTCAGTTGCTGCACGTTGTTCATCAGGATGCAGGGCTTTGGGGACAGATGTAGCTGTTGAGTCTTGGTTCCTTTCAGCATAGGACC 35398159 35398329 35398177 35398178 35398178 upstr_intron -33 -0.627451 GGTCCTATGCTGAAAGGAACCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT mutant NA NA NA NA NA 13 97 0.8 1 0.9 0.8517238 0.8372989 0.9549685 0.8780063 NA NA -0.1549685 0.1219937 0.8445113 0.9164874 NA -0.01648738 NA FALSE NA 0 0.148 . intron_variant MODIFIER UNC13B HGNC 12566 ENST00000378495 29/38 1 NA AGC G,A 2.471e-05 9:35398178 UNC13B HGNC Symbol protein_coding 243346 ENSG00000198722 ENSE00003589037 intron_variant 2.32631 0.32613 0.0439 0.099367 0.8904091 0.185441 6.603618e-05 FALSE 1.24896e-05 ENSE00001739078_004 ENSE00001739078 004 9 35398157 35398326 + 51 78 41 C T 35398193 408 37 ATAAAGGGAAAATACAGTGACTCCCAAACCCTAAGACCTACCTCCTTGCCTCCCATGGCCTCAAACATTTTCTCCAGCTGGACCCTCAGTTGCTGCACGTTGTTCATCAGGATGCAGGGCTTTGGGGACAGATATAGCTGTTGAGTCTTGGCTCCTTTCAGCATAGGACC 35398159 35398329 35398195 35398196 35398196 upstr_intron -15 -0.2745098 GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTATATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT mutant NA NA NA NA NA 20 273 0 0 0 0.8517238 0.8372989 0.9549685 0.8780063 NA NA -0.9549685 -0.8780063 0.8445113 0.9164874 NA -0.9164874 NA TRUE NA 0 0.054 rs140697287 intron_variant MODIFIER UNC13B HGNC 12566 ENST00000378495 29/38 rs140697287 1 T:0.0012 T:0.0045 T:0 NA T:0 T:0 T:0 T:0.0041 T:0 ACA C,T 0.0004777 9:35398196 UNC13B HGNC Symbol protein_coding 243346 ENSG00000198722 ENSE00003589037 intron_variant 2.232115 0.25442 0.05038 0.099367 0.8488147 0.136039 6.603618e-05 FALSE 0.000446586 ENSE00001739078_005 ENSE00001739078 005 9 35398157 35398326 + 51 78 41 A C 35398194 409 38 ATAAAGGGAAAATACAGTGACTCCCAAACCCTAAGACCTACCTCCTTGCCTCCCATGGCCTCAAACATTTTCTCCAGCTGGACCCTCAGTTGCTGCACGTTGTTCATCAGGATGCAGGGCTTTGGGGACAGAGGTAGCTGTTGAGTCTTGGCTCCTTTCAGCATAGGACC 35398159 35398329 35398196 35398197 35398197 upstr_intron -14 -0.254902 GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACCTCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT mutant NA NA NA NA NA 116 143 0.1131534 0 0.0565767 0.8517238 0.8372989 0.9549685 0.8780063 NA NA -0.8418151 -0.8780063 0.8445113 0.9164874 NA -0.8599107 NA TRUE NA 0 -1.362 . intron_variant MODIFIER UNC13B HGNC 12566 ENST00000378495 29/38 rs374936318 1 NA C:0 C:0.0001 CAT A,C 2.471e-05 9:35398197 UNC13B HGNC Symbol protein_coding 243346 ENSG00000198722 ENSE00003589037 intron_variant 1.946227 0.21008 0.05718 0.099367 0.8780851 0.136039 6.603618e-05 FALSE 9.81957e-05 ENSE00001739078_008 ENSE00001739078 008 9 35398157 35398326 + 51 78 41 C T 35398228 412 72 ATAAAGGGAAAATACAGTGACTCCCAAACCCTAAGACCTACCTCCTTGCCTCCCATGGCCTCAAACATTTTCTCCAGCTGGACCCTCAGTTGCTGCACATTGTTCATCAGGATGCAGGGCTTTGGGGACAGATGTAGCTGTTGAGTCTTGGCTCCTTTCAGCATAGGACC 35398159 35398329 35398230 35398231 35398231 exon 21 0.2692308 GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAATGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT mutant NA NA NA NA NA 119 17 0.8608342 0.9537942 0.9073142 0.8517238 0.8372989 0.9549685 0.8780063 NA NA -0.0941343 0.07578787 0.8445113 0.9164874 NA -0.009173217 NA FALSE NA 0.998 0.942 rs142701754 synonymous_variant LOW UNC13B HGNC 12566 ENST00000378495 30/39 rs142701754 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0034 T:0.0001 ACG C,T 0.0002553 9:35398231 UNC13B HGNC Symbol protein_coding 243346 ENSG00000198722 ENSE00003589037 synonymous_variant 2.157601 0.975 0.88209 0.706298 0.6856057 0 6.603618e-05 FALSE 0.000187034 ENSE00001739078_010 ENSE00001739078 010 9 35398157 35398326 + 51 78 41 G A 35398243 414 87 ATAAAGGGAAAATACAGTGACTCCCAAACCCTAAGACCTACCTCCTTGCCTCCCATGGCCTCAAACATTTTCTCCAGCTGGACTCTCAGTTGCTGCACGTTGTTCATCAGGATGCAGGGCTTTGGGGACAGATGTAGCTGTTGAGTCTTGGCTCCTTTCAGCATAGGACC 35398159 35398329 35398245 35398246 35398246 exon 36 0.4615385 GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGAGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT mutant NA NA NA NA NA 83 99 0.965739 0.8988225 0.9322808 0.8517238 0.8372989 0.9549685 0.8780063 NA NA 0.01077058 0.02081617 0.8445113 0.9164874 NA 0.01579337 NA FALSE NA 0.326 -0.277 . synonymous_variant LOW UNC13B HGNC 12566 ENST00000378495 30/39 1 NA GGG G,A 1.647e-05 9:35398246 UNC13B HGNC Symbol protein_coding 243346 ENSG00000198722 ENSE00003589037 synonymous_variant 1.292623 0.96614 0.48022 0.706298 0.6813499 0 6.603618e-05 FALSE 1.62577e-05 ENSE00001739078_013 ENSE00001739078 013 9 35398157 35398326 + 51 78 41 G A 35398268 417 112 ATAAAGGGAAAATACAGTGACTCCCAAACCCTAAGACCTACCTCCTTGCCTCCCATGGTCTCAAACATTTTCTCCAGCTGGACCCTCAGTTGCTGCACGTTGTTCATCAGGATGCAGGGCTTTGGGGACAGATGTAGCTGTTGAGTCTTGGCTCCTTTCAGCATAGGACC 35398159 35398329 35398270 35398271 35398271 exon -18 0.7820513 GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGACCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT mutant NA NA NA NA NA 20 51 0.95 0.9719115 0.9609557 0.8517238 0.8372989 0.9549685 0.8780063 NA NA -0.004968473 0.09390519 0.8445113 0.9164874 NA 0.04446836 NA FALSE NA 1 5.907 . missense_variant MODERATE UNC13B HGNC 12566 ENST00000378495 30/39 1 tolerated(0.17) probably_damaging(0.989) NA GGC G,A 1.647e-05 9:35398271 UNC13B HGNC Symbol protein_coding 243346 ENSG00000198722 ENSE00003589037 missense_variant 5.376844 0.98671 0.97312 0.706298 0.9887207 0 6.603618e-05 FALSE 1.2194e-05 ENSE00001739078_BRK ENSE00001739078 BRK 9 35398157 35398326 + 51 78 41 A,G; T,T NA NA NA ATAAAGGGAAAATACAGTGACTCCCAAACCCTAAGACCTGGCTCCTTGCCTCCCATGGCCTCAAACATTTTCTCCAGCTGGACCCTCAGTTGCTGCACGTTGTTCATCAGGATGCAGGGAATTGGGGACAGATGTAGCTGTTGAGTCTTGGCTCCTTTCAGCATAGGACC 35398159 35398329 NA NA NA NA NA NA GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAATTCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGCCAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT GGTCCTATGCTGAAAGGAGCCAAGACTCAACAGCTACATCTGTCCCCAAAGCCCTGCATCCTGATGAACAACGTGCAGCAACTGAGGGTCCAGCTGGAGAAAATGTTTGAGGCCATGGGAGGCAAGGAGGTAGGTCTTAGGGTTTGGGAGTCACTGTATTTTCCCTTTAT control 58 69 0 0 0 NA NA NA NA NA 0.8517238 0.8372989 0.9549685 0.8780063 -0.8517238 -0.8372989 NA NA 0.8445113 0.9164874 -0.8445113 NA NA NA TRUE NA NA NA NA NA UNC13B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13B NA NA NA ENSG00000198722 ENSE00003589037 NA NA NA NA NA NA NA 6.603618e-05 FALSE NA ENSE00001739489_000 ENSE00001739489 000 15 59523866 59524035 - 35 90 45 NA NA NA NA NA TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 NA NA NA NA NA NA TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG natural 23 22 0.9949643 0.9956133 0.9952888 1051 1871 0.9921751 0.9556901 0.9739326 0.9949643 0.9956133 0.9921751 0.9556901 0 0 0 0 0.9952888 0.9739326 0 0 0 FALSE FALSE NA NA NA NA NA MYO1E NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1E NA NA NA ENSG00000157483 ENSE00003490101 NA NA NA NA NA NA NA 0.04797789 FALSE NA ENSE00001739489_002 ENSE00001739489 002 15 59523866 59524035 - 35 90 45 G C 59523887 1149 149 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCGTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231687 59231688 59231688 downstr_intron 14 1.411765 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCGTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant 12 22 0.7229097 0.894859 0.8088844 NA NA NA NA NA 0.9949643 0.9956133 0.9921751 0.9556901 -0.2720546 -0.1007543 NA NA 0.9952888 0.9739326 -0.1864044 NA NA NA FALSE 0.101 0.923 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA AGG G,C 1.647e-05 15:59231688 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 intron_variant 0.766004 0.36193 0.05101 0.283894 0.6425036 0.53905 0.04797789 FALSE 8.12282e-06 ENSE00001739489_003 ENSE00001739489 003 15 59523866 59524035 - 35 90 45 G A 59523892 1150 144 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCTTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231692 59231693 59231693 downstr_intron 9 1.264706 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCTTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant 10 12 1 0.85 0.925 116 681 1 1 1 0.9949643 0.9956133 0.9921751 0.9556901 0.005035694 -0.1456133 0.007824912 0.04430988 0.9952888 0.9739326 -0.0702888 0.0260674 0.09635619 FALSE FALSE 0 0.215 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA AGG G,A 8.236e-06 15:59231693 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 intron_variant 0.893789 0.22864 0.1243 0.283894 0.8634802 0.0526402 0.04797789 FALSE NA ENSE00001739489_006 ENSE00001739489 006 15 59523866 59524035 - 35 90 45 C T 59523923 1153 113 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCAGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231723 59231724 59231724 exon -23 0.7555556 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCAGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 31 321 1 1 1 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.007824912 0.04430988 0.9952888 0.9739326 NA 0.0260674 NA FALSE NA 1 7.82 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 rs577478726 1 NA CCG C,T 8.236e-06 15:59231724 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 missense_variant 8.183765 0.99565 0.98811 0.722319 0.9995729 0 0.04797789 FALSE 8.12216e-06 ENSE00001739489_008 ENSE00001739489 008 15 59523866 59524035 - 35 90 45 C T 59523927 1155 109 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCATCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231727 59231728 59231728 exon -27 0.7111111 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCATCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 108 42 1 1 1 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.007824912 0.04430988 0.9952888 0.9739326 NA 0.0260674 NA FALSE NA 0.995 3.143 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 COSM1373825 1 NA ACG C,T 4.118e-05 15:59231728 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 missense_variant 5.514592 0.9889 0.94654 0.722319 0.9986075 0 0.04797789 FALSE 2.84273e-05 ENSE00001739489_013 ENSE00001739489 013 15 59523866 59524035 - 35 90 45 G A 59523957 1160 79 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGTTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231757 59231758 59231758 exon 34 0.3777778 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGTTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 84 27 1 0.9940968 0.9970484 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.007824912 0.03840667 0.9952888 0.9739326 NA 0.02311579 NA FALSE NA 0.998 2.693 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA AGC G,A 8.236e-06 15:59231758 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 synonymous_variant 1.354439 0.97899 0.90644 0.722319 0.7690687 0 0.04797789 FALSE 2.03069e-05 ENSE00001739489_016 ENSE00001739489 016 15 59523866 59524035 - 35 90 45 T C 59523963 1163 73 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCGACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231763 59231764 59231764 exon 28 0.3111111 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCGACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 190 498 0.9973715 0.9957156 0.9965436 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.005196386 0.04002552 0.9952888 0.9739326 NA 0.02261095 NA FALSE NA 1 8.042 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA TTG T,C 8.236e-06 15:59231764 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 missense_variant 5.82853 0.99033 0.98241 0.722319 0.9976964 0 0.04797789 FALSE 8.12288e-06 ENSE00001739489_017 ENSE00001739489 017 15 59523866 59524035 - 35 90 45 G C 59523972 1164 64 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCGTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231772 59231773 59231773 exon 19 0.2111111 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCGTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 335 31 0.9986408 0.9948637 0.9967522 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.006465714 0.03917355 0.9952888 0.9739326 NA 0.02281963 NA FALSE NA 1 6.7 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA AGG G,C 8.236e-06 15:59231773 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 missense_variant 5.323625 0.98753 0.97763 0.722319 0.9970095 0 0.04797789 FALSE 4.06161e-06 ENSE00001739489_020 ENSE00001739489 020 15 59523866 59524035 - 35 90 45 G A 59523988 1167 48 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCATGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231788 59231789 59231789 exon 3 0.03333333 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCATGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 17 213 0.8 0.8126602 0.8063301 0.9949643 0.9956133 0.9921751 0.9556901 NA NA -0.1921751 -0.1430299 0.9952888 0.9739326 NA -0.1676025 NA FALSE NA 0.169 -0.495 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA CGT G,A 0.0001071 15:59231789 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 missense_variant 1.703871 0.96825 0.25754 0.722319 0.9378748 0 0.04797789 FALSE 0.000117811 ENSE00001739489_023 ENSE00001739489 023 15 59523866 59524035 - 35 90 45 C A 59524000 1170 36 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTTCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231800 59231801 59231801 upstr_intron -10 -0.2 TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTTCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 201 691 0.9906283 0.9997711 0.9951997 0.9949643 0.9956133 0.9921751 0.9556901 NA NA -0.001546743 0.04408094 0.9952888 0.9739326 NA 0.0212671 NA FALSE NA 0 -0.072 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA GCA C,A 8.236e-06 15:59231801 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 intron_variant 0.444703 0.26981 0.09765 0.099367 0.6306043 0.0985246 0.04797789 FALSE 4.06303e-06 ENSE00001739489_024 ENSE00001739489 024 15 59523866 59524035 - 35 90 45 T C 59524004 1171 32 TAGGTGTTCACACCTTCCTAACCTCCGGTCTGTTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231804 59231805 59231805 upstr_intron -14 -0.2888889 TAGGTGTTCACACCTTCCTAACCTCCGGTCTGTTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 348 445 1 0.9792621 0.989631 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.007824912 0.02357195 0.9952888 0.9739326 NA 0.01569843 NA FALSE NA 0 -2.327 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:59231805 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 intron_variant 0.106973 0.2068 0.00461 0.099367 0.4753977 0.0881739 0.04797789 FALSE 0.000361606 ENSE00001739489_025 ENSE00001739489 025 15 59523866 59524035 - 35 90 45 T G 59524004 1172 32 TAGGTGTTCACACCTTCCTAACCTCCGGTCTCTTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231804 59231805 59231805 upstr_intron -14 -0.2888889 TAGGTGTTCACACCTTCCTAACCTCCGGTCTCTTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 322 521 0.8293165 0.9996963 0.9145064 0.9949643 0.9956133 0.9921751 0.9556901 NA NA -0.1628586 0.04400621 0.9952888 0.9739326 NA -0.05942621 NA FALSE NA 0 -2.327 NA NA NA MYO1E NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1E NA NA NA ENSG00000157483 ENSE00003490101 intron_variant 0.264323 0.23494 0.03619 0.099367 0.4989813 0.0881739 0.04797789 FALSE 8.12599e-06 ENSE00001739489_026 ENSE00001739489 026 15 59523866 59524035 - 35 90 45 C T 59524008 1173 28 TAGGTGTTCACACCTTCCTAACCTCCGATCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231808 59231809 59231809 upstr_intron -18 -0.3777778 TAGGTGTTCACACCTTCCTAACCTCCGATCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 280 167 1 1 1 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.007824912 0.04430988 0.9952888 0.9739326 NA 0.0260674 NA FALSE NA 0 -0.848 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA ACC C,T 8.236e-06 15:59231809 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 intron_variant 0.004151 0.2293 0.05531 0.099367 0.5422681 0.0527663 0.04797789 FALSE 4.06329e-06 ENSE00001739489_027 ENSE00001739489 027 15 59523866 59524035 - 35 90 45 G A 59524010 1174 26 TAGGTGTTCACACCTTCCTAACCTCTGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231810 59231811 59231811 upstr_intron -20 -0.4222222 TAGGTGTTCACACCTTCCTAACCTCTGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 1370 585 0.9980615 0.9995338 0.9987976 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.005886401 0.04384364 0.9952888 0.9739326 NA 0.02486502 NA FALSE NA 0 -0.611 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:59231811 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 intron_variant -0.142531 0.22811 0.01137 0.099367 0.5137425 0.0521688 0.04797789 FALSE 3.65726e-05 ENSE00001739489_028 ENSE00001739489 028 15 59523866 59524035 - 35 90 45 G T 59524010 1175 26 TAGGTGTTCACACCTTCCTAACCTCAGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231810 59231811 59231811 upstr_intron -20 -0.4222222 TAGGTGTTCACACCTTCCTAACCTCAGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 355 71 1 0.8396154 0.9198077 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.007824912 -0.1160747 0.9952888 0.9739326 NA -0.05412488 NA FALSE NA 0 -0.611 NA NA NA MYO1E NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1E NA NA NA ENSG00000157483 ENSE00003490101 intron_variant -0.314634 0.24595 0.07638 0.099367 0.4682541 0.0521688 0.04797789 FALSE 4.06362e-06 ENSE00001739489_029 ENSE00001739489 029 15 59523866 59524035 - 35 90 45 G C 59524023 1176 13 TAGGTGTTCACAGCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 59231823 59231824 59231824 upstr_intron -33 -0.7111111 TAGGTGTTCACAGCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG mutant NA NA NA NA NA 71 23 0.9946637 1 0.9973319 0.9949643 0.9956133 0.9921751 0.9556901 NA NA 0.002488618 0.04430988 0.9952888 0.9739326 NA 0.02339925 NA FALSE NA 0 -0.284 . upstream_gene_variant MODIFIER MYO1E HGNC 7599 ENST00000559269 1 NA GGT G,C 8.236e-06 15:59231824 MYO1E HGNC Symbol protein_coding 240466 ENSG00000157483 ENSE00003490101 intron_variant -0.132757 0.17225 0.0352 0.099367 0.5628308 0.0521688 0.04797789 FALSE 4.06554e-06 ENSE00001739489_BRK ENSE00001739489 BRK 15 59523866 59524035 - 35 90 45 A,G; T,T NA NA NA TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACTTCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTCCAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG 59231666 59231836 NA NA NA NA NA NA TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACTTCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTCCAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG TAGGTGTTCACACCTTCCTAACCTCCGGTCTATTTGCTGGGACAGCACGTGAAGGACATTATCCTGCAGTCCAACCCGCTGCTGGAGGCCTTCGGGAACGCCAAGACCGTCCGGAACAACAACTCCAGCCGATTTGTAAGTCCCTTCCCTGTTTCAGAGAGTGTCGCTTG control NA NA NA NA NA 103 63 0 0 0 0.9949643 0.9956133 0.9921751 0.9556901 NA NA -0.9921751 -0.9556901 0.9952888 0.9739326 NA -0.9739326 NA TRUE NA NA NA NA NA NA MYO1E NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO1E NA NA NA ENSG00000157483 ENSE00003490101 NA NA NA NA NA NA NA 0.04797789 FALSE NA ENSE00001740637_000 ENSE00001740637 000 1 103379855 103380024 - 53 54 63 NA NA NA NA NA TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 NA NA NA NA NA NA TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT natural NA NA NA NA NA 351 288 0.9509678 0.8830221 0.9169949 NA NA 0.9509678 0.8830221 NA NA 0 0 NA 0.9169949 NA 0 NA FALSE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001740637 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001740637_003 ENSE00001740637 003 1 103379855 103380024 - 53 54 63 C T 103379873 2748 152 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGAAGTGAATGTTTCCAATTT 102914298 102914468 102914316 102914317 102914317 downstr_intron 35 1.673077 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGAAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 33 45 0.9987462 0.9974218 0.998084 NA NA 0.9509678 0.8830221 NA NA 0.04777838 0.1143998 NA 0.9169949 NA 0.08108908 NA FALSE NA 0 0.075 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 50/64 1 NA TCC C,T 2.472e-05 1:102914317 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant 0.072291 0.21388 0.00706 0.061011 0.2908969 0.0448725 0.9999806 TRUE 2.10035e-05 ENSE00001740637_004 ENSE00001740637 004 1 103379855 103380024 - 53 54 63 C T 103379874 2749 151 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTAGAGTGAATGTTTCCAATTT 102914298 102914468 102914317 102914318 102914318 downstr_intron 34 1.653846 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTAGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 28 57 1 0.9965903 0.9982951 NA NA 0.9509678 0.8830221 NA NA 0.04903218 0.1135682 NA 0.9169949 NA 0.08130019 NA FALSE NA 0 -0.403 rs182988077 intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 50/64 rs182988077 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0039 T:0 CCA C,T 0.0002307 1:102914318 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant 0.219985 0.27464 0.06574 0.061011 0.4822081 0.0448725 0.9999806 TRUE 0.000226622 ENSE00001740637_005 ENSE00001740637 005 1 103379855 103380024 - 53 54 63 A C 103379878 2750 147 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTAGTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914321 102914322 102914322 downstr_intron 30 1.576923 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTAGTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 1802 65 0.9964394 0.997559 0.9969992 NA NA 0.9509678 0.8830221 NA NA 0.04547153 0.114537 NA 0.9169949 NA 0.08000426 NA FALSE NA 0 0.334 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 50/64 1 NA AAT A,C 8.239e-06 1:102914322 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant -0.126459 0.2253 0.03875 0.061011 0.4825659 0.0448725 0.9999806 TRUE 4.17181e-06 ENSE00001740637_007 ENSE00001740637 007 1 103379855 103380024 - 53 54 63 A G 103379889 2752 136 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAACCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914332 102914333 102914333 downstr_intron 19 1.365385 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAACCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 19 21 1 0.8276156 0.9138078 NA NA 0.9509678 0.8830221 NA NA 0.04903218 -0.05540641 NA 0.9169949 NA -0.003187118 NA FALSE NA 0 -0.444 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 50/64 rs374572445 1 NA G:0 G:0.0001 GAT A,G 8.239e-06 1:102914333 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant 0.112741 0.21485 0.05001 0.061011 0.5899664 0.0448725 0.9999806 TRUE 4.12511e-06 ENSE00001740637_011 ENSE00001740637 011 1 103379855 103380024 - 53 54 63 G A 103379914 2756 111 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGTCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914357 102914358 102914358 exon -7 0.8888889 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGTCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 19 19 1 1 1 NA NA 0.9509678 0.8830221 NA NA 0.04903218 0.1169779 NA 0.9169949 NA 0.08300506 NA FALSE NA 1 0.889 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 50/65 1 NA GGC G,A 8.238e-06 1:102914358 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 synonymous_variant 1.593318 0.97675 0.8602 0.693126 0.7083765 0 0.9999806 TRUE 8.15076e-06 ENSE00001740637_012 ENSE00001740637 012 1 103379855 103380024 - 53 54 63 A T 103379917 2757 108 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCAGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914360 102914361 102914361 exon -10 0.8333333 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCAGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant 10 69 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9509678 0.8830221 NA NA NA NA NA 0.9169949 NA NA NA NA NA 0.996 0.701 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 50/65 1 NA CAG A,T 8.238e-06 1:102914361 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 synonymous_variant 0.430656 0.96558 0.73383 0.693126 0.7337035 0 0.9999806 TRUE 4.07438e-06 ENSE00001740637_015 ENSE00001740637 015 1 103379855 103380024 - 53 54 63 G A 103379919 2760 106 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAATCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914362 102914363 102914363 exon -12 0.7962963 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAATCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 70 19 0.9976244 1 0.9988122 NA NA 0.9509678 0.8830221 NA NA 0.04665654 0.1169779 NA 0.9169949 NA 0.08181724 NA FALSE NA 1 3.634 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:102914363 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 missense_variant 3.600242 0.98699 0.91204 0.693126 0.9947081 0 0.9999806 TRUE 4.07378e-06 ENSE00001740637_016 ENSE00001740637 016 1 103379855 103380024 - 53 54 63 A G 103379926 2761 99 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCCGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914369 102914370 102914370 exon -19 0.6666667 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCCGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 16 42 1 0.9962156 0.9981078 NA NA 0.9509678 0.8830221 NA NA 0.04903218 0.1131936 NA 0.9169949 NA 0.08111288 NA FALSE NA 1 2.715 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 50/65 COSM1238553&COSM1238554 1 NA CAG A,G 3.295e-05 1:102914370 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 synonymous_variant 0.812709 0.97454 0.71691 0.693126 0.7948043 0 0.9999806 TRUE 2.44431e-05 ENSE00001740637_017 ENSE00001740637 017 1 103379855 103380024 - 53 54 63 A T 103379932 2762 93 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGACCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914375 102914376 102914376 exon -25 0.5555556 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGACCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant 25 89 0.0515887 0 0.02579435 NA NA NA NA NA NA NA 0.9509678 0.8830221 NA NA NA NA NA 0.9169949 NA NA NA NA NA 1 1.129 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 50/65 rs573885118 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GAC A,T 1.648e-05 1:102914376 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 synonymous_variant 0.486411 0.98552 0.95907 0.693126 0.737662 0 0.9999806 TRUE 8.14697e-06 ENSE00001740637_021 ENSE00001740637 021 1 103379855 103380024 - 53 54 63 G A 103379972 2766 53 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAATGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914415 102914416 102914416 upstr_intron -11 -0.1587302 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAATGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 57 40 0.9818669 1 0.9909334 NA NA 0.9509678 0.8830221 NA NA 0.03089907 0.1169779 NA 0.9169949 NA 0.07393851 NA FALSE NA 0 -1.817 rs192518657 intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 49/64 rs192518657 1 A:0.0024 A:0.0083 A:0.0014 NA A:0 A:0 A:0 A:0.0066 A:0 CGT G,A 0.0006843 1:102914416 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant 0.580667 0.23727 0.02276 0.061011 0.5522224 0.0885153 0.9999806 TRUE 0.000558553 ENSE00001740637_022 ENSE00001740637 022 1 103379855 103380024 - 53 54 63 G A 103379977 2767 48 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTTAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914420 102914421 102914421 upstr_intron -16 -0.2380952 TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTTAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 63 25 0.9986862 0.9885804 0.9936333 NA NA 0.9509678 0.8830221 NA NA 0.04771834 0.1055583 NA 0.9169949 NA 0.07663833 NA FALSE NA 0 -0.529 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 49/64 rs201491791 1 A:0.0012 A:0.0008 A:0 NA A:0.001 A:0.001 A:0.0031 A:0 A:0.0015 TGA G,A 0.00128 1:102914421 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant 0.174597 0.16588 0.02104 0.061011 0.4284486 0.0448725 0.9999806 TRUE 0.00128537 ENSE00001740637_025 ENSE00001740637 025 1 103379855 103380024 - 53 54 63 T C 103380002 2770 23 TGTCATAATTTTATAAAAATTTGTTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914445 102914446 102914446 upstr_intron -41 -0.6349206 TGTCATAATTTTATAAAAATTTGTTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 745 1319 0.9950056 0.9974736 0.9962396 NA NA 0.9509678 0.8830221 NA NA 0.04403776 0.1144516 NA 0.9169949 NA 0.07924467 NA FALSE NA 0 -0.092 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 49/64 1 NA ATA T,C 8.917e-06 1:102914446 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant -0.089914 0.2598 0.13964 0.061011 0.6608154 0.0448725 0.9999806 TRUE NA ENSE00001740637_026 ENSE00001740637 026 1 103379855 103380024 - 53 54 63 A T 103380005 2771 20 TGTCATAATTTTATAAAAAATTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914448 102914449 102914449 upstr_intron -44 -0.6825397 TGTCATAATTTTATAAAAAATTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 19 62 0.9978137 0.9974405 0.9976271 NA NA 0.9509678 0.8830221 NA NA 0.04684586 0.1144185 NA 0.9169949 NA 0.08063217 NA FALSE NA 0.002 -0.068 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 49/64 1 NA AAT A,T 1.783e-05 1:102914449 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant -0.502934 0.17586 0.08878 0.061011 0.579681 0.0448725 0.9999806 TRUE 2.19156e-05 ENSE00001740637_027 ENSE00001740637 027 1 103379855 103380024 - 53 54 63 T G 103380006 2772 19 TGTCATAATTTTATAAAACTTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT 102914298 102914468 102914449 102914450 102914450 upstr_intron -45 -0.6984127 TGTCATAATTTTATAAAACTTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT TGTCATAATTTTATAAAAATTTATTTTTCATTTATTTCTTTTTCTTTCAAAACGTCATTCTAGGGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCAGTAAGTATCAGGGAAAAATCAAGAAATTATTTTGGAGTGAATGTTTCCAATTT mutant NA NA NA NA NA 25 51 0.9949545 1 0.9974772 NA NA 0.9509678 0.8830221 NA NA 0.04398666 0.1169779 NA 0.9169949 NA 0.0804823 NA FALSE NA 0.003 0.108 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 49/64 1 NA ATT T,G 2.675e-05 1:102914450 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001740637 intron_variant 0.240247 0.25572 0.08917 0.061011 0.6649513 0.0443366 0.9999806 TRUE 1.64135e-05 ENSE00001741292_000 ENSE00001741292 000 1 26887491 26887660 + 45 90 35 NA NA NA NA NA TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATACCGCAGAAGAATCTCAATCTCTTCTGAAGGATCCCGCTTGCTCTTATCAATGACCTGAAGAAAGGGGGTGCATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 NA NA NA NA NA NA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA natural 189 209 0.8723723 0.8500805 0.8612264 398 619 0.9378247 0.980668 0.9592463 0.8723723 0.8500805 0.9378247 0.980668 0 0 0 0 0.8612264 0.9592463 0 0 0 FALSE FALSE NA NA NA NA NA RPS6KA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS6KA1 NA NA NA ENSG00000117676 ENSE00003762835 NA NA NA NA NA NA NA 0.7258756 FALSE NA ENSE00001741292_002 ENSE00001741292 002 1 26887491 26887660 + 45 90 35 C T 26887520 842 30 TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATACCGCAGAAGAATCTCAATCTCTTCTGAAGGATCCCGCTTGCTCTTATCAATGACCTGAAGAAAGGGGGTACATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 26561028 26561029 26561029 upstr_intron -16 -0.3333333 GGACCCTGTCACCCTGACACTGCCACATGTACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA mutant NA NA NA NA NA 37 109 1 1 1 0.8723723 0.8500805 0.9378247 0.980668 NA NA 0.06217531 0.01933202 0.8612264 0.9592463 NA 0.04075366 NA FALSE NA 0 -0.483 . intron_variant MODIFIER RPS6KA1 HGNC 10430 ENST00000530003 14/20 1 NA GCA C,T 4.118e-05 1:26561029 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003762835 intron_variant 0.829004 0.21003 0.07229 0.256867 0.6848173 0.145268 0.7258756 FALSE 6.90669e-05 ENSE00001741292_006 ENSE00001741292 006 1 26887491 26887660 + 45 90 35 T C 26887544 846 54 TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATACCGCAGAAGAATCTCAATCTCTTCTGAAGGATCCCGCTTGCTCTTGTCAATGACCTGAAGAAAGGGGGTGCATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 26561052 26561053 26561053 exon 9 0.1 GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGACAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA mutant NA NA NA NA NA 54 176 1 1 1 0.8723723 0.8500805 0.9378247 0.980668 NA NA 0.06217531 0.01933202 0.8612264 0.9592463 NA 0.04075366 NA FALSE NA 0.991 0.335 . synonymous_variant LOW RPS6KA1 HGNC 10430 ENST00000530003 15/21 1 NA ATA T,C 8.236e-06 1:26561053 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003762835 synonymous_variant 0.302661 0.91645 0.36545 0.732398 0.5559763 0 0.7258756 FALSE 4.06101e-06 ENSE00001741292_008 ENSE00001741292 008 1 26887491 26887660 + 45 90 35 C T 26887550 848 60 TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATACCGCAGAAGAATCTCAATCTCTTCTGAAGGATCCCGCTTACTCTTATCAATGACCTGAAGAAAGGGGGTGCATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 26561058 26561059 26561059 exon 15 0.1666667 GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGTAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA mutant 75 81 0.8426569 0.85 0.8463284 NA NA NA NA NA 0.8723723 0.8500805 0.9378247 0.980668 -0.02971539 -8.05144e-05 NA NA 0.8612264 0.9592463 -0.01489795 NA NA NA FALSE 0.953 0.211 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:26561059 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003762835 synonymous_variant 1.953072 0.92961 0.73596 0.732398 0.7107688 0 0.7258756 FALSE 2.84269e-05 ENSE00001741292_009 ENSE00001741292 009 1 26887491 26887660 + 45 90 35 C G 26887550 849 60 TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATACCGCAGAAGAATCTCAATCTCTTCTGAAGGATCCCGCTTCCTCTTATCAATGACCTGAAGAAAGGGGGTGCATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 26561058 26561059 26561059 exon 15 0.1666667 GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGGAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA mutant NA NA NA NA NA 37 13 0.9786166 1 0.9893083 0.8723723 0.8500805 0.9378247 0.980668 NA NA 0.0407919 0.01933202 0.8612264 0.9592463 NA 0.03006196 NA FALSE NA 0.953 0.211 NA NA NA RPS6KA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS6KA1 NA NA NA ENSG00000117676 ENSE00003762835 missense_variant 2.405173 0.93312 0.81375 0.732398 0.9395086 0 0.7258756 FALSE 4.06098e-06 ENSE00001741292_010 ENSE00001741292 010 1 26887491 26887660 + 45 90 35 G A 26887553 850 63 TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATACCGCAGAAGAATCTCAATCTCTTCTGAAGGATCCCGTTTGCTCTTATCAATGACCTGAAGAAAGGGGGTGCATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 26561061 26561062 26561062 exon 18 0.2 GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAACGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA mutant 28 41 0.85 0.85 0.85 NA NA NA NA NA 0.8723723 0.8500805 0.9378247 0.980668 -0.02237228 -8.05144e-05 NA NA 0.8612264 0.9592463 -0.0112264 NA NA NA FALSE 1 1.681 . synonymous_variant LOW RPS6KA1 HGNC 10430 ENST00000530003 15/21 1 NA AGC G,A 8.236e-06 1:26561062 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003762835 synonymous_variant 1.670867 0.93762 0.81542 0.732398 0.579754 0 0.7258756 FALSE 4.06108e-06 ENSE00001741292_011 ENSE00001741292 011 1 26887491 26887660 + 45 90 35 C A 26887554 851 64 TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATACCGCAGAAGAATCTCAATCTCTTCTGAAGGATCCCTCTTGCTCTTATCAATGACCTGAAGAAAGGGGGTGCATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 26561062 26561063 26561063 exon 19 0.2111111 GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGAGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA mutant 34 32 0.85 0.85 0.85 NA NA NA NA NA 0.8723723 0.8500805 0.9378247 0.980668 -0.02237228 -8.05144e-05 NA NA 0.8612264 0.9592463 -0.0112264 NA NA NA FALSE 1 1.814 . synonymous_variant LOW RPS6KA1 HGNC 10430 ENST00000530003 15/21 1 NA GCG C,A 5.765e-05 1:26561063 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003762835 synonymous_variant 3.337085 0.92265 0.70995 0.732398 0.6822457 0 0.7258756 FALSE 9.3404e-05 ENSE00001741292_013 ENSE00001741292 013 1 26887491 26887660 + 45 90 35 C T 26887564 853 74 TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATACCGCAGAAGAATCTCAATCTCTTCTAAAGGATCCCGCTTGCTCTTATCAATGACCTGAAGAAAGGGGGTGCATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 26561072 26561073 26561073 exon 29 0.3222222 GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTTAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA mutant 112 108 0.85 0.7695209 0.8097604 NA NA NA NA NA 0.8723723 0.8500805 0.9378247 0.980668 -0.02237228 -0.08055966 NA NA 0.8612264 0.9592463 -0.05146597 NA NA NA FALSE 1 7.711 . missense_variant MODERATE RPS6KA1 HGNC 10430 ENST00000530003 15/21 COSM3804813&COSM3804812 1 deleterious(0.01) benign(0.174) NA TCA C,T 8.236e-06 1:26561073 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003762835 missense_variant 5.48087 0.97561 0.95471 0.732398 0.998592 0 0.7258756 FALSE 4.06075e-06 ENSE00001741292_015 ENSE00001741292 015 1 26887491 26887660 + 45 90 35 G T 26887589 855 99 TGGTCCCCACCCCAGTCTTAAGGACCCCCACTCACATCTTTCAGAGTGATGATGTTGGGGTGCTGGCCATAACGCAGAAGAATCTCAATCTCTTCTGAAGGATCCCGCTTGCTCTTATCAATGACCTGAAGAAAGGGGGTGCATGTGGCAGTGTCAGGGTGACAGGGTCC 26560999 26561169 26561097 26561098 26561098 exon -37 0.6 GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGTTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA GGACCCTGTCACCCTGACACTGCCACATGCACCCCCTTTCTTCAGGTCATTGATAAGAGCAAGCGGGATCCTTCAGAAGAGATTGAGATTCTTCTGCGGTATGGCCAGCACCCCAACATCATCACTCTGAAAGATGTGAGTGGGGGTCCTTAAGACTGGGGTGGGGACCA mutant 39 22 0.85 0.85 0.85 NA NA NA NA NA 0.8723723 0.8500805 0.9378247 0.980668 -0.02237228 -8.05144e-05 NA NA 0.8612264 0.9592463 -0.0112264 NA NA NA FALSE 0.987 0.272 . synonymous_variant LOW RPS6KA1 HGNC 10430 ENST00000530003 15/21 1 NA GGT G,T 8.236e-06 1:26561098 RPS6KA1 HGNC Symbol protein_coding 45269 ENSG00000117676 ENSE00003762835 synonymous_variant 1.385886 0.92297 0.76266 0.732398 0.6673334 0 0.7258756 FALSE 4.06101e-06 ENSE00001741869_000 ENSE00001741869 000 1 40778350 40778519 - 53 54 63 NA NA NA NA NA CCTGCTCTGTGGGTCAGGGAGCAGGTTGGCCCTCATTGATCCTACATTTTCATTCTTCCCCAGGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGTAAGGGGCCTGCTGGGGCCTCAGCGTGGGCAATCTAGGGCCAGCGTTTGGGA 40312677 40312847 NA NA NA NA NA NA CCTGCTCTGTGGGTCAGGGAGCAGGTTGGCCCTCATTGATCCTACATTTTCATTCTTCCCCAGGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGTAAGGGGCCTGCTGGGGCCTCAGCGTGGGCAATCTAGGGCCAGCGTTTGGGA CCTGCTCTGTGGGTCAGGGAGCAGGTTGGCCCTCATTGATCCTACATTTTCATTCTTCCCCAGGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGTAAGGGGCCTGCTGGGGCCTCAGCGTGGGCAATCTAGGGCCAGCGTTTGGGA natural 24 52 0.85 0.9051698 0.8775849 720 691 0.9729465 0.96075 0.9668482 0.85 0.9051698 0.9729465 0.96075 0 0 0 0 0.8775849 0.9668482 0 0 0 FALSE FALSE NA NA NA NA NA COL9A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A2 NA NA NA ENSG00000049089 ENSE00003604484 NA NA NA NA NA NA NA 0.1828012 FALSE NA ENSE00001741869_007 ENSE00001741869 007 1 40778350 40778519 - 53 54 63 A G 40778463 1527 57 CCTGCTCTGTGGGTCAGGGAGCAGGTTGGCCCTCATTGATCCTACATTTTCATTCTCCCCCAGGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGTAAGGGGCCTGCTGGGGCCTCAGCGTGGGCAATCTAGGGCCAGCGTTTGGGA 40312677 40312847 40312790 40312791 40312791 upstr_intron -7 -0.0952381 CCTGCTCTGTGGGTCAGGGAGCAGGTTGGCCCTCATTGATCCTACATTTTCATTCTCCCCCAGGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGTAAGGGGCCTGCTGGGGCCTCAGCGTGGGCAATCTAGGGCCAGCGTTTGGGA CCTGCTCTGTGGGTCAGGGAGCAGGTTGGCCCTCATTGATCCTACATTTTCATTCTTCCCCAGGGTTTAACTGGAGCCAAGGGGGAGCCTGGCCCCATGGGGATCCCTGGAGTCAAGGTAAGGGGCCTGCTGGGGCCTCAGCGTGGGCAATCTAGGGCCAGCGTTTGGGA mutant NA NA NA NA NA 39 68 0.8182271 0.95 0.8841135 0.85 0.9051698 0.9729465 0.96075 NA NA -0.1547194 -0.01074999 0.8775849 0.9668482 NA -0.08273469 NA FALSE NA 0.241 0.764 rs146943340 downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 rs146943340 1 G:0.0024 G:0.0083 G:0.0014 NA G:0 G:0 G:0 G:0.0039 G:0.0001 GAA .,G 0.0003649 1:40312791 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003604484 splice_region_variant -0.007118 0.23173 0.21895 0.056701 0.7465746 0.285708 0.1828012 FALSE 0.000342011 ENSE00001741923_000 ENSE00001741923 000 15 91083230 91083399 + 41 99 30 NA NA NA NA NA TGCTGTTACCTCTCAGCGTTCTTAAATCACTTTGTTTCCAGGTTCAATTTCAGAAGCTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAGTGCGTCAGAGTTTCAGGTACCTCCAGATATGTACTTTCTTGAAGCT 90539997 90540167 NA NA NA NA NA NA TGCTGTTACCTCTCAGCGTTCTTAAATCACTTTGTTTCCAGGTTCAATTTCAGAAGCTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAGTGCGTCAGAGTTTCAGGTACCTCCAGATATGTACTTTCTTGAAGCT TGCTGTTACCTCTCAGCGTTCTTAAATCACTTTGTTTCCAGGTTCAATTTCAGAAGCTTCAGCAACTGCGCCTTACACAGTACCATGGAGGATCCTTACCAAATGTGAGCCAGCTGCGGAGCAGTGCGTCAGAGTTTCAGGTACCTCCAGATATGTACTTTCTTGAAGCT natural 126 87 0.9971425 0.9914245 0.9942835 2383 2153 0.9885085 0.9904926 0.9895006 0.9971425 0.9914245 0.9885085 0.9904926 0 0 0 0 0.9942835 0.9895006 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003535045 NA NA NA NA NA NA NA NA NA NA ENSE00001742824_000 ENSE00001742824 000 1 89427706 89427875 - 36 87 47 NA NA NA NA NA ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 NA NA NA NA NA NA ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC natural 422 682 0.8487 0.85 0.84935 11406 5641 0.8192405 0.8193699 0.8193052 0.8487 0.85 0.8192405 0.8193699 0 0 0 0 0.84935 0.8193052 0 0 0 FALSE FALSE NA NA NA NA NA CCBL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KYAT3 NA NA NA ENSG00000137944 ENSE00003637394 NA NA NA NA NA NA NA NA NA NA ENSE00001742824_001 ENSE00001742824 001 1 89427706 89427875 - 36 87 47 A G 89427717 2497 159 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATACGGCAAAGTTTC 88962022 88962192 88962033 88962034 88962034 downstr_intron 25 1.714286 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATACGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 586 66 0.746812 0.8 0.773406 0.8487 0.85 0.8192405 0.8193699 NA NA -0.07242854 -0.01936989 0.84935 0.8193052 NA -0.04589922 NA FALSE NA 0 0.13 rs187447772 intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/13 rs187447772 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAT A,G 8.236e-06 1:88962034 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant 0.881992 0.32722 0.19632 0.21705 0.878593 0.0470223 NA NA 4.07571e-06 ENSE00001742824_002 ENSE00001742824 002 1 89427706 89427875 - 36 87 47 A T 89427723 2498 153 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGATCATATGGCAAAGTTTC 88962022 88962192 88962039 88962040 88962040 downstr_intron 19 1.542857 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGATCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 583 822 0.8002764 0.8056289 0.8029526 0.8487 0.85 0.8192405 0.8193699 NA NA -0.01896416 -0.01374103 0.84935 0.8193052 NA -0.01635259 NA FALSE NA 0 -0.068 . intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/13 1 NA AAC A,T 8.236e-06 1:88962040 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant 0.027958 0.18179 0.12964 0 0.6793659 0.0470223 NA NA 4.07272e-06 ENSE00001742824_003 ENSE00001742824 003 1 89427706 89427875 - 36 87 47 C A 89427724 2499 152 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGTTTCATATGGCAAAGTTTC 88962022 88962192 88962040 88962041 88962041 downstr_intron 18 1.514286 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGTTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant 33 49 0.85 0.85 0.85 770 404 0.8020906 0.8074244 0.8047575 0.8487 0.85 0.8192405 0.8193699 0.001299969 -1.110223e-16 -0.01714986 -0.01194546 0.84935 0.8193052 0.0006499845 -0.01454766 0.01519764 FALSE FALSE 0 -0.424 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:88962041 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant 0.186014 0.1849 0.03422 0.21705 0.5353652 0.0470223 NA NA 1.22188e-05 ENSE00001742824_004 ENSE00001742824 004 1 89427706 89427875 - 36 87 47 C T 89427724 2500 152 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGATTCATATGGCAAAGTTTC 88962022 88962192 88962040 88962041 88962041 downstr_intron 18 1.514286 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGATTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 1435 1017 0.8540409 0.7950221 0.8245315 0.8487 0.85 0.8192405 0.8193699 NA NA 0.03480042 -0.02434774 0.84935 0.8193052 NA 0.005226337 NA FALSE NA 0 -0.424 NA NA NA CCBL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KYAT3 NA NA NA ENSG00000137944 ENSE00003637394 intron_variant 0.099301 0.11535 0.01887 0.21705 0.4640048 0.0470223 NA NA 4.07292e-06 ENSE00001742824_005 ENSE00001742824 005 1 89427706 89427875 - 36 87 47 A G 89427726 2501 150 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTACGGTTCATATGGCAAAGTTTC 88962022 88962192 88962042 88962043 88962043 downstr_intron 16 1.457143 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTACGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 357 340 0.8745322 0.9505518 0.912542 0.8487 0.85 0.8192405 0.8193699 NA NA 0.05529169 0.1311819 0.84935 0.8193052 NA 0.09323679 NA FALSE NA 0 -0.749 . intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/13 rs369930243 1 NA G:0.0005 G:0 CAT A,G 1.647e-05 1:88962043 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant -0.500193 0.07331 0.02041 0.21705 0.4842408 0.0470223 NA NA 8.14233e-06 ENSE00001742824_006 ENSE00001742824 006 1 89427706 89427875 - 36 87 47 C A 89427729 2502 147 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCATTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962045 88962046 88962046 downstr_intron 13 1.371429 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCATTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 974 687 0.8002679 0.8407548 0.8205114 0.8487 0.85 0.8192405 0.8193699 NA NA -0.01897259 0.02138496 0.84935 0.8193052 NA 0.00120618 NA FALSE NA 0 -1.302 . intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/13 1 NA ACT C,A 8.236e-06 1:88962046 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant 1.52566 0.14638 0.01808 0.21705 0.6862727 0.0470223 NA NA 4.07126e-06 ENSE00001742824_007 ENSE00001742824 007 1 89427706 89427875 - 36 87 47 G A 89427732 2503 144 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGTCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962048 88962049 88962049 downstr_intron 10 1.285714 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGTCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 1426 276 0.8918402 0.9412598 0.91655 0.8487 0.85 0.8192405 0.8193699 NA NA 0.07259964 0.1218899 0.84935 0.8193052 NA 0.09724476 NA FALSE NA 0.869 1.417 . intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/13 1 NA GGC G,A 8.236e-06 1:88962049 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant 1.921807 0.25738 0.53992 0.21705 0.7102608 0.231579 NA NA 4.07203e-06 ENSE00001742824_008 ENSE00001742824 008 1 89427706 89427875 - 36 87 47 T A 89427745 2504 131 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGTTCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962061 88962062 88962062 exon -4 0.9655172 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGTTCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant 22 30 0 0 0 NA NA NA NA NA 0.8487 0.85 0.8192405 0.8193699 -0.8487 -0.85 NA NA 0.84935 0.8193052 -0.84935 NA NA NA TRUE 0.996 1.726 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA ATC T,A 2.471e-05 1:88962062 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 6.289192 0.96602 0.90344 0.732398 0.9974169 0 NA NA 1.22076e-05 ENSE00001742824_009 ENSE00001742824 009 1 89427706 89427875 - 36 87 47 A G 89427749 2505 127 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCCGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962065 88962066 88962066 exon -8 0.9195402 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCCGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 1189 444 0.9416614 0.8832439 0.9124527 0.8487 0.85 0.8192405 0.8193699 NA NA 0.1224209 0.06387404 0.84935 0.8193052 NA 0.09314748 NA FALSE NA 0.98 8.586 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA CAG A,G 8.236e-06 1:88962066 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 5.520699 0.70269 0.98229 0.732398 0.9987074 0 NA NA NA ENSE00001742824_010 ENSE00001742824 010 1 89427706 89427875 - 36 87 47 C T 89427774 2506 102 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTAGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962090 88962091 88962091 exon -33 0.6321839 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTAGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant 61 184 0 0 0 480 345 0.01967701 0.001061079 0.01036904 0.8487 0.85 0.8192405 0.8193699 -0.8487 -0.85 -0.7995635 -0.8183088 0.84935 0.8193052 -0.84935 -0.8089362 0.04041386 TRUE TRUE 1 7.175 rs192354423 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 rs192354423 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCA C,T 1.647e-05 1:88962091 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 7.258621 0.99413 0.99034 0.744818 0.9992941 0 NA NA 8.13418e-06 ENSE00001742824_012 ENSE00001742824 012 1 89427706 89427875 - 36 87 47 A G 89427779 2508 97 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAACGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962095 88962096 88962096 exon -38 0.5747126 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAACGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 378 2028 0.990947 0.9787787 0.9848629 0.8487 0.85 0.8192405 0.8193699 NA NA 0.1717065 0.1594088 0.84935 0.8193052 NA 0.1655577 NA FALSE NA 1 8.586 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA CAT A,G 1.647e-05 1:88962096 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 4.747508 0.99285 0.99376 0.744818 0.993547 0 NA NA 1.62676e-05 ENSE00001742824_013 ENSE00001742824 013 1 89427706 89427875 - 36 87 47 C T 89427782 2509 94 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAAAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962098 88962099 88962099 exon -41 0.5402299 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAAAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 861 1413 0.7479401 0.8102518 0.779096 0.8487 0.85 0.8192405 0.8193699 NA NA -0.07130046 -0.009118037 0.84935 0.8193052 NA -0.04020925 NA FALSE NA 0.337 0.663 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA TCT C,T 1.647e-05 1:88962099 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 1.417496 0.96748 0.70538 0.744818 0.7502322 0 NA NA 8.13385e-06 ENSE00001742824_014 ENSE00001742824 014 1 89427706 89427875 - 36 87 47 C T 89427784 2510 92 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTAAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962100 88962101 88962101 exon -43 0.5172414 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTAAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 177 562 0 0 0 0.8487 0.85 0.8192405 0.8193699 NA NA -0.8192405 -0.8193699 0.84935 0.8193052 NA -0.8193052 NA TRUE NA 0.572 0.07 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA TCA C,T 8.236e-06 1:88962101 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 synonymous_variant 1.884232 0.96442 0.74481 0.744818 0.7434922 0 NA NA 4.06689e-06 ENSE00001742824_015 ENSE00001742824 015 1 89427706 89427875 - 36 87 47 C T 89427787 2511 89 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATAGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962103 88962104 88962104 exon 42 0.4827586 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATAGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 850 96 0.01965228 0.003351152 0.01150172 0.8487 0.85 0.8192405 0.8193699 NA NA -0.7995882 -0.8160187 0.84935 0.8193052 NA -0.8078035 NA TRUE NA 1 7.175 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA CCA C,T 8.236e-06 1:88962104 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 6.756268 0.99413 0.99034 0.744818 0.9974672 0 NA NA 8.13425e-06 ENSE00001742824_016 ENSE00001742824 016 1 89427706 89427875 - 36 87 47 T C 89427789 2512 87 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCGTGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962105 88962106 88962106 exon 40 0.4597701 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCGTGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant 10 43 0.85 0.85 0.85 NA NA NA NA NA 0.8487 0.85 0.8192405 0.8193699 0.001299969 0 NA NA 0.84935 0.8193052 0.0006499845 NA NA NA FALSE 1 7.376 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 rs202074540 1 NA ATG T,C 8.236e-06 1:88962106 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 5.241521 0.99223 0.98955 0.744818 0.9947181 0 NA NA 4.06689e-06 ENSE00001742824_017 ENSE00001742824 017 1 89427706 89427875 - 36 87 47 C G 89427795 2513 81 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATCAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962111 88962112 88962112 exon 34 0.3908046 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATCAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 664 2024 0.001607804 0.06955128 0.03557954 0.8487 0.85 0.8192405 0.8193699 NA NA -0.8176327 -0.7498186 0.84935 0.8193052 NA -0.7837257 NA TRUE NA 1 4.372 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA TCA C,G 8.236e-06 1:88962112 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 4.773329 0.99148 0.98468 0.744818 0.9951219 0 NA NA 4.06712e-06 ENSE00001742824_018 ENSE00001742824 018 1 89427706 89427875 - 36 87 47 T C 89427797 2514 79 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTGTGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962113 88962114 88962114 exon 32 0.3678161 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTGTGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 1185 408 0.9969688 0.9999067 0.9984377 0.8487 0.85 0.8192405 0.8193699 NA NA 0.1777283 0.1805368 0.84935 0.8193052 NA 0.1791325 NA FALSE NA 1 7.376 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 rs373497698 1 NA C:0 C:0.0001 ATA T,C 2.471e-05 1:88962114 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 6.185461 0.99308 0.99069 0.744818 0.998408 0 NA NA 2.03363e-05 ENSE00001742824_019 ENSE00001742824 019 1 89427706 89427875 - 36 87 47 C T 89427800 2515 76 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTACTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962116 88962117 88962117 exon 29 0.3333333 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTACTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 148 226 0.7771671 0.7923213 0.7847442 0.8487 0.85 0.8192405 0.8193699 NA NA -0.04207345 -0.02704863 0.84935 0.8193052 NA -0.03456104 NA FALSE NA 1 7.175 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA GCA C,T 8.236e-06 1:88962117 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 6.763107 0.99472 0.99134 0.744818 0.9979954 0 NA NA 8.13412e-06 ENSE00001742824_020 ENSE00001742824 020 1 89427706 89427875 - 36 87 47 T C 89427803 2516 73 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGGCTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962119 88962120 88962120 exon 26 0.2988506 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGGCTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 1432 738 0.6130046 0.8003426 0.7066736 0.8487 0.85 0.8192405 0.8193699 NA NA -0.2062359 -0.0190273 0.84935 0.8193052 NA -0.1126316 NA FALSE NA 1 7.376 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA GTC T,C 8.236e-06 1:88962120 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 6.380879 0.99308 0.99069 0.732398 0.9985886 0 NA NA 4.06742e-06 ENSE00001742824_021 ENSE00001742824 021 1 89427706 89427875 - 36 87 47 A G 89427807 2517 69 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCCATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962123 88962124 88962124 exon 22 0.2528736 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCCATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 722 3433 0.9591892 0.9627498 0.9609695 0.8487 0.85 0.8192405 0.8193699 NA NA 0.1399487 0.1433799 0.84935 0.8193052 NA 0.1416643 NA FALSE NA 1 8.586 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 1 NA TAG A,G 8.236e-06 1:88962124 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 6.017388 0.99362 0.99436 0.732398 0.9986525 0 NA NA 4.06736e-06 ENSE00001742824_024 ENSE00001742824 024 1 89427706 89427875 - 36 87 47 G T 89427822 2520 54 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATAATAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962138 88962139 88962139 exon 7 0.08045977 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATAATAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 274 1959 0.9138627 0.8001291 0.8569959 0.8487 0.85 0.8192405 0.8193699 NA NA 0.09462221 -0.0192408 0.84935 0.8193052 NA 0.03769071 NA FALSE NA 1 3.05 NA NA NA CCBL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:88962139 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 0.40004 0.95591 0.28326 0.732398 0.2404413 0 NA NA 8.13656e-06 ENSE00001742824_025 ENSE00001742824 025 1 89427706 89427875 - 36 87 47 A G 89427824 2521 52 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCACACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962140 88962141 88962141 exon 5 0.05747126 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCACACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant 27 49 0.85 0.85 0.85 1000 951 0.8633687 0.6989395 0.7811541 0.8487 0.85 0.8192405 0.8193699 0.001299969 -1.110223e-16 0.04412815 -0.1204304 0.84935 0.8193052 0.0006499845 -0.03815112 0.0388011 FALSE FALSE 1 8.586 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 6/14 COSM912925&COSM912926 1 NA TAT A,G 1.647e-05 1:88962141 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 missense_variant 5.868201 0.9934 0.99419 0.732398 0.9978569 0 NA NA 8.13795e-06 ENSE00001742824_026 ENSE00001742824 026 1 89427706 89427875 - 36 87 47 T C 89427835 2522 41 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTGTTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962151 88962152 88962152 upstr_intron -7 -0.1276596 ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTGTTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant 49 85 0.85 0.85 0.85 32 624 0.945627 0.9175749 0.9316009 0.8487 0.85 0.8192405 0.8193699 0.001299969 0 0.1263865 0.09820497 0.84935 0.8193052 0.0006499845 0.1122957 0.1116457 FALSE FALSE 0.902 1.378 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CCBL2 HGNC 33238 ENST00000446900 5/13 rs369205909 1 NA C:0 C:0.0003 ATA T,C 4.118e-05 1:88962152 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 splice_region_variant 0.589202 0.89409 0.92488 0.106106 0.5930053 0.320611 NA NA 4.0702e-05 ENSE00001742824_027 ENSE00001742824 027 1 89427706 89427875 - 36 87 47 A G 89427844 2523 32 ATGAATAAATGATTGACAGGTTGTGATCTTACTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962160 88962161 88962161 upstr_intron -16 -0.3191489 ATGAATAAATGATTGACAGGTTGTGATCTTACTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant 52 17 0 0 0 1195 220 0.0005714833 0.05741262 0.02899205 0.8487 0.85 0.8192405 0.8193699 -0.8487 -0.85 -0.818669 -0.7619573 0.84935 0.8193052 -0.84935 -0.7903131 0.05903687 TRUE TRUE 0 0.217 . intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 5/13 1 NA AAT A,G 8.237e-06 1:88962161 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant -0.121211 0.23437 0.15227 0.106106 0.7533651 0.184685 NA NA 1.22154e-05 ENSE00001742824_028 ENSE00001742824 028 1 89427706 89427875 - 36 87 47 C T 89427851 2524 25 ATGAATAAATGATTGACAGGTTGTAATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962167 88962168 88962168 upstr_intron -23 -0.4680851 ATGAATAAATGATTGACAGGTTGTAATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 365 7910 0.9369695 0.9686944 0.952832 0.8487 0.85 0.8192405 0.8193699 NA NA 0.117729 0.1493245 0.84935 0.8193052 NA 0.1335268 NA FALSE NA 0 -1.669 . intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 5/13 1 NA TCA C,T 1.647e-05 1:88962168 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant 0.10329 0.18215 0.01419 0.106106 0.2204219 0.046875 NA NA 1.63084e-05 ENSE00001742824_029 ENSE00001742824 029 1 89427706 89427875 - 36 87 47 A G 89427855 2525 21 ATGAATAAATGATTGACAGGCTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962171 88962172 88962172 upstr_intron -27 -0.5531915 ATGAATAAATGATTGACAGGCTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant NA NA NA NA NA 2850 1814 0.801343 0.8007268 0.8010349 0.8487 0.85 0.8192405 0.8193699 NA NA -0.01789749 -0.0186431 0.84935 0.8193052 NA -0.01827029 NA FALSE NA 0 -0.205 . intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 5/13 1 NA AAC A,G 8.237e-06 1:88962172 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant 0.414863 0.20002 0.05428 0.106106 0.6106543 0.046875 NA NA 4.07764e-06 ENSE00001742824_030 ENSE00001742824 030 1 89427706 89427875 - 36 87 47 G A 89427859 2526 17 ATGAATAAATGATTGATAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 88962175 88962176 88962176 upstr_intron -31 -0.6382979 ATGAATAAATGATTGATAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC mutant 56 75 0.85 0.85 0.85 1777 474 0.800997 0.9005377 0.8507674 0.8487 0.85 0.8192405 0.8193699 0.001299969 0 -0.01824351 0.08116784 0.84935 0.8193052 0.0006499845 0.03146216 0.03081218 FALSE FALSE 0 0.04 . intron_variant&non_coding_transcript_variant MODIFIER CCBL2 HGNC 33238 ENST00000446900 5/13 1 NA TGT G,A 6.589e-05 1:88962176 KYAT3 HGNC Symbol protein_coding 57180 ENSG00000137944 ENSE00003637394 intron_variant -0.039745 0.13992 0.00113 0.106106 0.4509682 0.0615991 NA NA 4.89916e-05 ENSE00001742824_BRK ENSE00001742824 BRK 1 89427706 89427875 - 36 87 47 A,G; T,T NA NA NA ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCTTGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTCCAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC 88962022 88962192 NA NA NA NA NA NA ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCTTGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTCCAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC ATGAATAAATGATTGACAGGTTGTGATCTTATTTGCTTTTATTGCAGGTCATACTAATAGTGCCTTTCTATGACTGCTATGAGCCCATGGTGAGAATGGCTGGAGCAACACCTGTTTTTATTCCCCTGAGATCTGTAAGTTTGCCAGTATGGTTCATATGGCAAAGTTTC control 87 19 0 0 0 NA NA NA NA NA 0.8487 0.85 0.8192405 0.8193699 -0.8487 -0.85 NA NA 0.84935 0.8193052 -0.84935 NA NA NA TRUE NA NA NA NA NA CCBL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KYAT3 NA NA NA ENSG00000137944 ENSE00003637394 NA NA NA NA NA NA NA NA NA NA ENSE00001742967_000 ENSE00001742967 000 9 108061456 108061625 + 45 90 35 NA NA NA NA NA CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 NA NA NA NA NA NA CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT natural 46 42 0.9945051 0.9951277 0.9948164 5512 4366 0.8552065 0.8742141 0.8647103 0.9945051 0.9951277 0.8552065 0.8742141 0 0 0 0 0.9948164 0.8647103 0 0 0 FALSE FALSE NA NA NA NA NA SLC44A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC44A1 NA NA NA ENSG00000070214 ENSE00001742967 NA NA NA NA NA NA NA 0.9992536 TRUE NA ENSE00001742967_001 ENSE00001742967 001 9 108061456 108061625 + 45 90 35 C T 108061479 1350 24 CTAAACTTAGCATTTAACACTCTTTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299197 105299198 105299198 upstr_intron -22 -0.4666667 CTAAACTTAGCATTTAACACTCTTTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 30 347 1 1 1 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1447935 0.1257859 0.9948164 0.8647103 NA 0.1352897 NA FALSE NA 0.469 0.026 . intron_variant MODIFIER SLC44A1 HGNC 18798 ENST00000374720 1/15 rs544874555 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C,T 1.647e-05 9:105299198 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 intron_variant 0.737287 0.38587 0.06332 0.108992 0.7918983 0.16586 0.9992536 TRUE 1.33561e-05 ENSE00001742967_002 ENSE00001742967 002 9 108061456 108061625 + 45 90 35 T C 108061483 1351 28 CTAAACTTAGCATTTAACACTCTCTTACTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299201 105299202 105299202 upstr_intron -18 -0.3777778 CTAAACTTAGCATTTAACACTCTCTTACTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 194 895 0.9861642 0.9981857 0.9921749 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1309577 0.1239716 0.9948164 0.8647103 NA 0.1274646 NA FALSE NA 0.244 0.306 . intron_variant MODIFIER SLC44A1 HGNC 18798 ENST00000374720 1/15 rs369120825 1 NA C:0.0002 C:0 ATT T,C 1.647e-05 9:105299202 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 intron_variant 0.108249 0.37054 0.01832 0.108992 0.6294147 0.1662 0.9992536 TRUE 4.43671e-06 ENSE00001742967_003 ENSE00001742967 003 9 108061456 108061625 + 45 90 35 G A 108061502 1352 47 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAACTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299220 105299221 105299221 exon 2 0.02222222 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAACTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 77 36 1 0.9955812 0.9977906 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1447935 0.1213671 0.9948164 0.8647103 NA 0.1330803 NA FALSE NA 1 6.694 . missense_variant&splice_region_variant MODERATE SLC44A1 HGNC 18798 ENST00000374720 2/16 1 tolerated(0.46) benign(0.001) NA AGC G,A 6.589e-05 9:105299221 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 missense_variant 2.299846 0.97593 0.81192 0.643511 0.9877987 0 0.9992536 TRUE 3.60689e-05 ENSE00001742967_004 ENSE00001742967 004 9 108061456 108061625 + 45 90 35 G A 108061524 1353 69 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCACTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299242 105299243 105299243 exon 24 0.2666667 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCACTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 761 690 0.9936624 0.9999448 0.9968036 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1384559 0.1257307 0.9948164 0.8647103 NA 0.1320933 NA FALSE NA 0 -3.693 rs147166443 synonymous_variant LOW SLC44A1 HGNC 18798 ENST00000374720 2/16 rs147166443 1 NA A:0 A:0.0001 CGC G,A 8.236e-06 9:105299243 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 synonymous_variant 0.643358 0.18237 0.01628 0.643511 0.8659207 0 0.9992536 TRUE NA ENSE00001742967_006 ENSE00001742967 006 9 108061456 108061625 + 45 90 35 G A 108061541 1355 86 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTACACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299259 105299260 105299260 exon 41 0.4555556 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTACACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 94 260 0.9784882 0.9902877 0.9843879 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1232817 0.1160735 0.9948164 0.8647103 NA 0.1196776 NA FALSE NA 1 8.591 . missense_variant MODERATE SLC44A1 HGNC 18798 ENST00000374720 2/16 1 deleterious(0.02) benign(0.092) NA TGC G,A 8.237e-06 9:105299260 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 missense_variant 4.377584 0.98476 0.86098 0.730579 0.9977961 0 0.9992536 TRUE NA ENSE00001742967_007 ENSE00001742967 007 9 108061456 108061625 + 45 90 35 C T 108061542 1356 87 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGTACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299260 105299261 105299261 exon 42 0.4666667 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGTACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 551 857 0.562149 0.5059336 0.5340413 0.9945051 0.9951277 0.8552065 0.8742141 NA NA -0.2930576 -0.3682806 0.9948164 0.8647103 NA -0.3306691 NA FALSE NA 1 0.567 . synonymous_variant LOW SLC44A1 HGNC 18798 ENST00000374720 2/16 1 NA GCA C,T 8.237e-06 9:105299261 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 synonymous_variant 1.473059 0.9575 0.40126 0.730579 0.8311967 0 0.9992536 TRUE 8.76117e-06 ENSE00001742967_008 ENSE00001742967 008 9 108061456 108061625 + 45 90 35 A C 108061545 1357 90 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACCGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299263 105299264 105299264 exon 45 0.5 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACCGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 1089 40 0.9931754 1 0.9965877 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1379689 0.1257859 0.9948164 0.8647103 NA 0.1318774 NA FALSE NA 1 0.847 . synonymous_variant LOW SLC44A1 HGNC 18798 ENST00000374720 2/16 1 NA CAG A,C 8.236e-06 9:105299264 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 synonymous_variant -0.619186 0.96209 0.41757 0.730579 0.7597779 0 0.9992536 TRUE 4.34609e-06 ENSE00001742967_009 ENSE00001742967 009 9 108061456 108061625 + 45 90 35 C T 108061552 1358 97 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATATCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299270 105299271 105299271 exon -39 0.5777778 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATATCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 469 750 0.9859838 1 0.9929919 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1307772 0.1257859 0.9948164 0.8647103 NA 0.1282816 NA FALSE NA 1 6.811 rs140552103 missense_variant MODERATE SLC44A1 HGNC 18798 ENST00000374720 2/16 rs140552103 1 tolerated(0.46) probably_damaging(0.941) NA T:0.0005 T:0 ACC C,T 2.471e-05 9:105299271 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 missense_variant 4.80575 0.98807 0.80906 0.730579 0.9898598 0 0.9992536 TRUE 1.30562e-05 ENSE00001742967_011 ENSE00001742967 011 9 108061456 108061625 + 45 90 35 C G 108061572 1360 117 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATGCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299290 105299291 105299291 exon -19 0.8 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATGCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 551 1755 0.9926813 1 0.9963407 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1374748 0.1257859 0.9948164 0.8647103 NA 0.1316304 NA FALSE NA 0.521 -0.559 . missense_variant MODERATE SLC44A1 HGNC 18798 ENST00000374720 2/16 rs372582450 1 tolerated(0.17) benign(0.008) NA G:0 G:0.0001 TCC C,G 1.647e-05 9:105299291 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 missense_variant 1.251351 0.95176 0.08473 0.730579 0.9815821 0 0.9992536 TRUE 1.33577e-05 ENSE00001742967_012 ENSE00001742967 012 9 108061456 108061625 + 45 90 35 A G 108061582 1361 127 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCGTTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299300 105299301 105299301 exon -9 0.9111111 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCGTTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 10 1471 1 0.8096759 0.9048379 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1447935 -0.06453826 0.9948164 0.8647103 NA 0.04012761 NA FALSE NA 0.364 -0.13 . missense_variant MODERATE SLC44A1 HGNC 18798 ENST00000374720 2/16 1 tolerated(0.84) benign(0.001) NA CAT A,G 8.237e-06 9:105299301 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 missense_variant 0.066339 0.96334 0.08735 0.730579 0.8492615 0 0.9992536 TRUE 4.62197e-06 ENSE00001742967_014 ENSE00001742967 014 9 108061456 108061625 + 45 90 35 G A 108061586 1363 131 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGAGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299304 105299305 105299305 exon -5 0.9555556 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGAGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 2110 45 0.9961625 0.9964691 0.9963158 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.140956 0.122255 0.9948164 0.8647103 NA 0.1316055 NA FALSE NA 1 8.591 . missense_variant MODERATE SLC44A1 HGNC 18798 ENST00000374720 2/16 1 deleterious(0) possibly_damaging(0.801) NA GGG G,A 8.237e-06 9:105299305 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 missense_variant 6.466341 0.9871 0.83615 0.730579 0.9976652 0 0.9992536 TRUE 4.74802e-06 ENSE00001742967_015 ENSE00001742967 015 9 108061456 108061625 + 45 90 35 G A 108061596 1364 141 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGAAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299314 105299315 105299315 downstr_intron 6 1.176471 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGAAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 733 1445 0.9915297 0.9986079 0.9950688 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1363232 0.1243938 0.9948164 0.8647103 NA 0.1303585 NA FALSE NA 0.997 0.662 . splice_region_variant&intron_variant LOW SLC44A1 HGNC 18798 ENST00000374720 2/15 1 NA GGA G,A 8.237e-06 9:105299315 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 splice_region_variant 0.297624 0.65319 0.12188 0.108992 0.735266 0.187073 0.9992536 TRUE NA ENSE00001742967_016 ENSE00001742967 016 9 108061456 108061625 + 45 90 35 A G 108061597 1365 142 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGGAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 105299315 105299316 105299316 downstr_intron 7 1.205882 CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGGAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT mutant NA NA NA NA NA 111 79 0.9193828 1 0.9596914 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.06417622 0.1257859 0.9948164 0.8647103 NA 0.09498105 NA FALSE NA 0.991 3.495 rs16924420 splice_region_variant&intron_variant LOW SLC44A1 HGNC 18798 ENST00000374720 2/15 rs16924420 1 G:0.0248 G:0.0908 G:0.0058 NA G:0 G:0 G:0 G:0.0631 G:0.0006 GAA A,G 0.007446 9:105299316 SLC44A1 HGNC Symbol protein_coding 194549 ENSG00000070214 ENSE00001742967 splice_region_variant 0.234827 0.62259 0.16752 0.108992 0.7034739 0.181286 0.9992536 TRUE 0.00611756 ENSE00001742967_BRK ENSE00001742967 BRK 9 108061456 108061625 + 45 90 35 A,G; T,T NA NA NA CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTTTAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGCCAAGGAAACTCTCACAGATGGTCCAAACTGGACT 105299174 105299344 NA NA NA NA NA NA CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTTTAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGCCAAGGAAACTCTCACAGATGGTCCAAACTGGACT CTAAACTTAGCATTTAACACTCTCTTATTTTGTATTTCCAATTAGAGCTCCAAACGAGAATGGAAGCCGCTGGAGGACCGTAGCTGCACAGACATACCATGGCTGCTGCTCTTCATCCTCTTCTGCATTGGGATGGTAAGGAAACTCTCACAGATGGTCCAAACTGGACT control NA NA NA NA NA 33 145 1 0.9669882 0.9834941 0.9945051 0.9951277 0.8552065 0.8742141 NA NA 0.1447935 0.09277407 0.9948164 0.8647103 NA 0.1187838 NA FALSE NA NA NA NA NA NA SLC44A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC44A1 NA NA NA ENSG00000070214 ENSE00001742967 NA NA NA NA NA NA NA 0.9992536 TRUE NA ENSE00001743444_000 ENSE00001743444 000 3 38406643 38406812 + 47 87 36 NA NA NA NA NA AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 NA NA NA NA NA NA GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT natural 3088 4069 0.8484203 0.8502725 0.8493464 6404 2218 0.7294459 0.7847267 0.7570863 0.8484203 0.8502725 0.7294459 0.7847267 0 0 0 0 0.8493464 0.7570863 0 0 0 FALSE FALSE NA NA NA NA NA XYLB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XYLB NA NA NA ENSG00000093217 ENSE00003562999 NA NA NA NA NA NA NA 2.628865e-13 FALSE NA ENSE00001743444_003 ENSE00001743444 003 3 38406643 38406812 + 47 87 36 A G 38406668 559 26 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACACGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365176 38365177 38365177 upstr_intron -22 -0.4468085 GACACTGGTGTGTGGTCATGTGACCGTGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 602 625 0.02460694 0.04948541 0.03704618 0.8484203 0.8502725 0.7294459 0.7847267 NA NA -0.704839 -0.7352412 0.8493464 0.7570863 NA -0.7200401 NA TRUE NA 0 -2.397 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 1 NA CAT A,G 2.471e-05 3:38365177 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 intron_variant 0.175942 0.12292 0.01052 0.099367 0.671154 0.132628 2.628865e-13 FALSE 2.03316e-05 ENSE00001743444_006 ENSE00001743444 006 3 38406643 38406812 + 47 87 36 G A 38406689 562 47 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGTTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365197 38365198 38365198 upstr_intron -1 0 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAACAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 471 556 0.01156061 0 0.005780303 0.8484203 0.8502725 0.7294459 0.7847267 NA NA -0.7178853 -0.7847267 0.8493464 0.7570863 NA -0.751306 NA TRUE NA 1 5.826 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 1 NA AGC G,A 8.236e-06 3:38365198 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 splice_acceptor_variant 4.163784 0.9528 0.89567 0.099367 0.9944693 0.948898 2.628865e-13 FALSE 4.06322e-06 ENSE00001743444_009 ENSE00001743444 009 3 38406643 38406812 + 47 87 36 A T 38406694 565 52 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGAGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365202 38365203 38365203 exon 5 0.05747126 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACTCGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 1758 248 0.8 0.868542 0.834271 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.0705541 0.08381533 0.8493464 0.7570863 NA 0.07718472 NA FALSE NA 1 7.153 NA NA NA XYLB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:38365203 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 missense_variant 4.823424 0.94604 0.9707 0.615465 0.9719586 0 2.628865e-13 FALSE 4.06263e-06 ENSE00001743444_013 ENSE00001743444 013 3 38406643 38406812 + 47 87 36 G T 38406710 569 68 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTACAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365218 38365219 38365219 exon 21 0.2413793 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGTAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 922 58 0.01131618 0.01125714 0.01128666 0.8484203 0.8502725 0.7294459 0.7847267 NA NA -0.7181297 -0.7734695 0.8493464 0.7570863 NA -0.7457996 NA TRUE NA 1 7.607 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 1 NA GGA G,T 3.295e-05 3:38365219 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 missense_variant 5.413274 0.95488 0.97466 0.615465 0.9908991 0 2.628865e-13 FALSE 3.65497e-05 ENSE00001743444_014 ENSE00001743444 014 3 38406643 38406812 + 47 87 36 G T 38406729 570 87 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGACTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365237 38365238 38365238 exon 40 0.4597701 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGTCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 457 2047 0.8538084 0.6929704 0.7733894 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.1243625 -0.09175625 0.8493464 0.7570863 NA 0.01630314 NA FALSE NA 0.001 1.107 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 rs370702086 1 NA T:0.0002 T:0 GGC G,T 8.236e-06 3:38365238 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 missense_variant -0.379603 0.30191 0.29336 0.615465 0.3682076 0 2.628865e-13 FALSE 4.06118e-06 ENSE00001743444_016 ENSE00001743444 016 3 38406643 38406812 + 47 87 36 G T 38406739 572 97 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGATTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365247 38365248 38365248 exon -38 0.5747126 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAATCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 132 187 0.004585754 0 0.002292877 0.8484203 0.8502725 0.7294459 0.7847267 NA NA -0.7248601 -0.7847267 0.8493464 0.7570863 NA -0.7547934 NA TRUE NA 0.965 2.155 NA NA NA XYLB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:38365248 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 missense_variant 0.811308 0.23385 0.64357 0.615465 0.9663704 0 2.628865e-13 FALSE 4.06095e-06 ENSE00001743444_017 ENSE00001743444 017 3 38406643 38406812 + 47 87 36 C T 38406748 573 106 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTAGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365256 38365257 38365257 exon -29 0.6781609 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACTAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 284 1438 0.04073535 0 0.02036768 0.8484203 0.8502725 0.7294459 0.7847267 NA NA -0.6887105 -0.7847267 0.8493464 0.7570863 NA -0.7367186 NA TRUE NA 1 5.78 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 rs375350114 1 NA T:0 T:0.0001 CCA C,T 1.647e-05 3:38365257 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 missense_variant 6.043004 0.94841 0.95921 0.615465 0.998142 0 2.628865e-13 FALSE 8.12216e-06 ENSE00001743444_018 ENSE00001743444 018 3 38406643 38406812 + 47 87 36 G T 38406758 574 116 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGACGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365266 38365267 38365267 exon -19 0.7931034 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGTCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 318 110 0.8436933 0.9931437 0.9184185 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.1142474 0.208417 0.8493464 0.7570863 NA 0.1613322 NA FALSE NA 0.001 -0.312 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 1 NA GGC G,T 8.236e-06 3:38365267 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 synonymous_variant 0.588034 0.18328 0.06504 0.615465 0.596258 0 2.628865e-13 FALSE NA ENSE00001743444_019 ENSE00001743444 019 3 38406643 38406812 + 47 87 36 T A 38406760 575 118 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTGTTGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365268 38365269 38365269 exon -17 0.816092 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCAACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 1106 159 0.8007424 0.8 0.8003712 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.07129652 0.01527334 0.8493464 0.7570863 NA 0.04328493 NA FALSE NA 0.933 5.941 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 1 NA CTA T,A 8.236e-06 3:38365269 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 missense_variant 5.713025 0.67766 0.91783 0.615465 0.9891409 0 2.628865e-13 FALSE 1.21834e-05 ENSE00001743444_020 ENSE00001743444 020 3 38406643 38406812 + 47 87 36 C T 38406762 576 120 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGGTATAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365270 38365271 38365271 exon -15 0.8390805 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTATACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 412 273 0.8 0.8 0.8 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.0705541 0.01527334 0.8493464 0.7570863 NA 0.04291372 NA FALSE NA 0.586 1.847 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 1 NA ACA C,T 8.236e-06 3:38365271 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 missense_variant 1.176637 0.90058 0.66487 0.615465 0.8733954 0 2.628865e-13 FALSE 4.06124e-06 ENSE00001743444_021 ENSE00001743444 021 3 38406643 38406812 + 47 87 36 C T 38406764 577 122 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGCTGCTGATGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365272 38365273 38365273 exon -13 0.862069 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACATCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 1776 137 0.8167981 0.7892396 0.8030188 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.08735217 0.004512898 0.8493464 0.7570863 NA 0.04593253 NA FALSE NA 0.227 -0.05 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 rs368062300 1 NA T:0 T:0.0001 ACC C,T 1.647e-05 3:38365273 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 synonymous_variant 1.279328 0.83635 0.15797 0.615465 0.5927863 0 2.628865e-13 FALSE 8.12269e-06 ENSE00001743444_022 ENSE00001743444 022 3 38406643 38406812 + 47 87 36 G A 38406770 578 128 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGCAGTTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365278 38365279 38365279 exon -7 0.9310345 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAACTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 373 1020 0.9977723 0.9975373 0.9976548 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.2683264 0.2128107 0.8493464 0.7570863 NA 0.2405685 NA FALSE NA 1 1.738 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 rs368523150 1 NA A:0 A:0.0001 AGC G,A 1.647e-05 3:38365279 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 synonymous_variant 0.711186 0.90368 0.77096 0.615465 0.5846969 0 2.628865e-13 FALSE 8.12321e-06 ENSE00001743444_023 ENSE00001743444 023 3 38406643 38406812 + 47 87 36 G T 38406773 579 131 AAGTTTCTCACACTCACACAACGTAGCCACAGTTACCTGAAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365281 38365282 38365282 exon -4 0.9655172 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTTCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 495 113 0.9996903 1 0.9998451 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.2702444 0.2152733 0.8493464 0.7570863 NA 0.2427589 NA FALSE NA 0.909 0.052 rs704943 upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 rs704943 1 G:0.1034 T:0.702 T:0.9409 NA T:1 T:0.9414 T:0.9755 T:0.7608 T:0.9385 TGC G,T 0.936 3:38365282 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 synonymous_variant 0.749216 0.87169 0.73684 0.615465 0.8012486 0 2.628865e-13 FALSE 0.93906 ENSE00001743444_025 ENSE00001743444 025 3 38406643 38406812 + 47 87 36 C T 38406790 581 148 AAGTTTCTCACACTCACACAACATAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365298 38365299 38365299 downstr_intron 14 1.4 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTATGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 977 54 0.798086 0.8046609 0.8013734 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.06864008 0.01993424 0.8493464 0.7570863 NA 0.04428716 NA FALSE NA 0 -0.409 rs2234607 upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 rs2234607 1 T:0.0006 T:0 T:0.0014 NA T:0 T:0 T:0.002 T:0 T:0.0005 ACG C,T 0.0006177 3:38365299 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 intron_variant -0.2888 0.16003 0.02224 0.062308 0.2990881 0.0616447 2.628865e-13 FALSE 0.00053635 ENSE00001743444_026 ENSE00001743444 026 3 38406643 38406812 + 47 87 36 G A 38406791 582 149 AAGTTTCTCACACTCACACAATGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365299 38365300 38365300 downstr_intron 15 1.428571 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACATTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 396 1858 0.8089152 0.7797913 0.7943532 0.8484203 0.8502725 0.7294459 0.7847267 NA NA 0.07946929 -0.004935383 0.8493464 0.7570863 NA 0.03726695 NA FALSE NA 0 -1.206 . upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 1 NA CGT G,A 8.236e-06 3:38365300 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 intron_variant -0.763899 0.12566 0.03132 0.062308 0.3781896 0.0616447 2.628865e-13 FALSE 8.12863e-06 ENSE00001743444_027 ENSE00001743444 027 3 38406643 38406812 + 47 87 36 T G 38406793 583 151 AAGTTTCTCACACTCACACCACGTAGCCACAGTTACCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGCTGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 38365301 38365302 38365302 downstr_intron 17 1.485714 GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTGGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT mutant NA NA NA NA NA 1198 255 0.01523349 0.001256679 0.008245086 0.8484203 0.8502725 0.7294459 0.7847267 NA NA -0.7142124 -0.78347 0.8493464 0.7570863 NA -0.7488412 NA TRUE NA 0 0.242 rs2234608 upstream_gene_variant MODIFIER XYLB HGNC 12839 ENST00000487569 rs2234608 1 T:0.2292 G:0.4818 G:0.8833 NA G:0.75 G:0.9374 G:0.9315 G:0.5597 G:0.9362 TTG T,G 0.893 3:38365302 XYLB HGNC Symbol protein_coding 74588 ENSG00000093217 ENSE00003562999 intron_variant -0.036116 0.2105 0.11099 0.062308 0.3771332 0.0616447 2.628865e-13 FALSE 0.899916 ENSE00001743444_BRK ENSE00001743444 BRK 3 38406643 38406812 + 47 87 36 A,G; T,T NA NA NA AAGTTTCTCACACTCACACAACGTAGCCACAGTTGGCTGCAGCTGCTGGTGTAGCCGGAGGTCTGGTGATAAGCTTGTCAGTGCCTGCTGGGCTCCAGCCTTCCAGTATATACTTCCGTGTTGAAGTTGGGAAACCCAAGCACATGGTCACATGACCACACACCAGTGTC 38365151 38365321 NA NA NA NA NA NA GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACTTCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGCCAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT GACACTGGTGTGTGGTCATGTGACCATGTGCTTGGGTTTCCCAACAGCAACACGGAAGTATATACTGGAAGGCTGGAGCCCAGCAGGCACTGACAAGCTTATCACCAGACCTCCGGCTACACCAGCAGCTGCAGGTAACTGTGGCTACGTTGTGTGAGTGTGAGAAACTT control 1214 312 0.0140323 0.09217515 0.05310373 NA NA NA NA NA 0.8484203 0.8502725 0.7294459 0.7847267 -0.834388 -0.7580974 NA NA 0.8493464 0.7570863 -0.7962427 NA NA NA TRUE NA NA NA NA NA XYLB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XYLB NA NA NA ENSG00000093217 ENSE00003562999 NA NA NA NA NA NA NA 2.628865e-13 FALSE NA ENSE00001743562_000 ENSE00001743562 000 19 13387833 13388002 - 50 60 60 NA NA NA NA NA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 NA NA NA NA NA NA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA natural 19 30 1 0.9992262 0.9996131 1379 771 0.9758618 0.9440695 0.9599656 1 0.9992262 0.9758618 0.9440695 0 0 0 0 0.9996131 0.9599656 0 0 0 FALSE FALSE NA NA NA NA NA CACNA1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA1A NA NA NA ENSG00000141837 ENSE00001743562 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001743562_001 ENSE00001743562 001 19 13387833 13388002 - 50 60 60 C T 13387853 1139 150 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACAGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277038 13277039 13277039 downstr_intron 30 1.612245 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACAGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 251 958 0.9808512 0.9942827 0.9875669 1 0.9992262 0.9758618 0.9440695 NA NA 0.004989382 0.05021321 0.9996131 0.9599656 NA 0.0276013 NA FALSE NA 0 -0.305 . intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 23/46 1 NA CCG C,T 8.276e-06 19:13277039 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 intron_variant -0.313231 0.08907 0.00404 0.077194 0.6529568 0.0455235 1 TRUE NA ENSE00001743562_002 ENSE00001743562 002 19 13387833 13388002 - 50 60 60 G A 13387854 1140 149 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACATGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277039 13277040 13277040 downstr_intron 29 1.591837 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACATGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 13 200 0.9626206 1 0.9813103 1 0.9992262 0.9758618 0.9440695 NA NA -0.01324114 0.0559305 0.9996131 0.9599656 NA 0.02134468 NA FALSE NA 0 -1.059 rs191571906 intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 23/46 rs191571906 1 A:0.0006 A:0 A:0 NA A:0.002 A:0 A:0.001 CGT G,A 0.0001241 19:13277040 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 intron_variant -0.173633 0.12284 0.00784 0.077194 0.5746343 0.0455235 1 TRUE 9.46424e-05 ENSE00001743562_005 ENSE00001743562 005 19 13387833 13388002 - 50 60 60 C T 13387865 1143 138 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAATGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277050 13277051 13277051 downstr_intron 18 1.367347 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAATGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 156 64 1 1 1 1 0.9992262 0.9758618 0.9440695 NA NA 0.02413822 0.0559305 0.9996131 0.9599656 NA 0.04003436 NA FALSE NA 0 -0.106 . intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 23/46 1 NA ACT C,T 8.275e-06 19:13277051 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 intron_variant 0.152408 0.21208 0.00691 0.077194 0.6605862 0.0455235 1 TRUE 4.08353e-06 ENSE00001743562_006 ENSE00001743562 006 19 13387833 13388002 - 50 60 60 A G 13387870 1144 133 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATCATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277055 13277056 13277056 downstr_intron 13 1.265306 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATCATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 216 237 0.9996183 0.9973887 0.9985035 1 0.9992262 0.9758618 0.9440695 NA NA 0.02375655 0.05331916 0.9996131 0.9599656 NA 0.03853786 NA FALSE NA 0.001 -0.11 . intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 23/46 1 NA TAA A,G 0.0001572 19:13277056 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 intron_variant -0.469781 0.21896 0.04122 0.077194 0.4503605 0.0455235 1 TRUE 0.000134564 ENSE00001743562_008 ENSE00001743562 008 19 13387833 13388002 - 50 60 60 G C 13387875 1146 128 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGGAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277060 13277061 13277061 downstr_intron 8 1.163265 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGGAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 100 73 1 0.999477 0.9997385 1 0.9992262 0.9758618 0.9440695 NA NA 0.02413822 0.05540746 0.9996131 0.9599656 NA 0.03977284 NA FALSE NA 0.997 3.579 . splice_region_variant&intron_variant LOW CACNA1A HGNC 1388 ENST00000573710 23/46 1 NA TGC G,C 8.275e-06 19:13277061 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 splice_region_variant 0.247598 0.4127 0.53854 0.077194 0.6844559 0.0521993 1 TRUE 4.07628e-06 ENSE00001743562_009 ENSE00001743562 009 19 13387833 13388002 - 50 60 60 C T 13387876 1147 127 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTACAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277061 13277062 13277062 downstr_intron 7 1.142857 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTACAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 426 91 0.9996401 0.9868728 0.9932564 1 0.9992262 0.9758618 0.9440695 NA NA 0.02377831 0.04280328 0.9996131 0.9599656 NA 0.0332908 NA FALSE NA 0.998 0.452 . splice_region_variant&intron_variant LOW CACNA1A HGNC 1388 ENST00000573710 23/46 rs376836245 1 NA T:0.0003 T:0 GCA C,T 8.275e-06 19:13277062 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 splice_region_variant 0.6516 0.3383 0.13939 0.077194 0.7943304 0.100667 1 TRUE NA ENSE00001743562_010 ENSE00001743562 010 19 13387833 13388002 - 50 60 60 A G 13387904 1148 99 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTCACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277089 13277090 13277090 exon -22 0.65 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTCACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 415 537 0.9853307 0.9001179 0.9427243 1 0.9992262 0.9758618 0.9440695 NA NA 0.009468893 -0.04395164 0.9996131 0.9599656 NA -0.01724137 NA FALSE NA 1 1.83 rs16030 synonymous_variant LOW CACNA1A HGNC 1388 ENST00000573710 23/47 rs16030 1 G:0.1667 G:0.0938 G:0.2147 NA G:0.0923 G:0.2475 G:0.2249 G:0.0858 G:0.2172 TAA A,G 0.195 19:13277090 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 synonymous_variant 0.654675 0.94485 0.35261 0.656854 0.7307199 0 1 TRUE 0.195237 ENSE00001743562_011 ENSE00001743562 011 19 13387833 13388002 - 50 60 60 G A 13387907 1149 96 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTTTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277092 13277093 13277093 exon -25 0.6 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTTTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 190 21 0.9689584 0.8935514 0.9312549 1 0.9992262 0.9758618 0.9440695 NA NA -0.006903373 -0.05051813 0.9996131 0.9599656 NA -0.02871075 NA FALSE NA 1 2.46 . synonymous_variant LOW CACNA1A HGNC 1388 ENST00000573710 23/47 1 NA AGA G,A 8.274e-06 19:13277093 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 synonymous_variant 1.272858 0.93431 0.75831 0.656854 0.8394158 0 1 TRUE 4.06706e-06 ENSE00001743562_013 ENSE00001743562 013 19 13387833 13388002 - 50 60 60 G A 13387910 1151 93 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGTGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277095 13277096 13277096 exon -28 0.55 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGTGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 47 104 1 0.966465 0.9832325 1 0.9992262 0.9758618 0.9440695 NA NA 0.02413822 0.02239551 0.9996131 0.9599656 NA 0.02326687 NA FALSE NA 0 -1.366 NA NA NA CACNA1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:13277096 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 synonymous_variant 1.07932 0.28664 0.05862 0.656854 0.8824005 0 1 TRUE 4.06755e-06 ENSE00001743562_014 ENSE00001743562 014 19 13387833 13388002 - 50 60 60 C T 13387921 1152 82 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACATTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277106 13277107 13277107 exon 22 0.3666667 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACATTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 294 1306 0.9473888 0.9998789 0.9736339 1 0.9992262 0.9758618 0.9440695 NA NA -0.02847293 0.05580938 0.9996131 0.9599656 NA 0.01366822 NA FALSE NA 0.991 2.968 . missense_variant MODERATE CACNA1A HGNC 1388 ENST00000573710 23/47 1 benign(0.436) NA ACG C,T 1.655e-05 19:13277107 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 missense_variant 4.71395 0.97063 0.79532 0.656854 0.9686917 0 1 TRUE 1.62645e-05 ENSE00001743562_017 ENSE00001743562 017 19 13387833 13388002 - 50 60 60 C T 13387940 1155 63 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTACTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277125 13277126 13277126 exon 3 0.05 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTACTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 20 172 1 0.9997784 0.9998892 1 0.9992262 0.9758618 0.9440695 NA NA 0.02413822 0.05570893 0.9996131 0.9599656 NA 0.03992358 NA FALSE NA 0.312 -0.005 . splice_region_variant&synonymous_variant LOW CACNA1A HGNC 1388 ENST00000573710 23/47 1 NA GCA C,T 8.274e-06 19:13277126 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 splice_region_variant 1.585814 0.93661 0.65524 0.656854 0.8434974 0 1 TRUE 1.22106e-05 ENSE00001743562_019 ENSE00001743562 019 19 13387833 13388002 - 50 60 60 G C 13387964 1157 39 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTGTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277149 13277150 13277150 upstr_intron -22 -0.35 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTGTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 16 32 1 1 1 1 0.9992262 0.9758618 0.9440695 NA NA 0.02413822 0.0559305 0.9996131 0.9599656 NA 0.04003436 NA FALSE NA 0 -0.41 . intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 22/46 rs376359916 1 NA C:0 C:0.0001 AGA G,C 7.446e-05 19:13277150 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 non_coding_transcript_exon_variant -0.204092 0.31404 0.04433 0.077194 0.4091462 0.0731224 1 TRUE 8.2023e-05 ENSE00001743562_020 ENSE00001743562 020 19 13387833 13388002 - 50 60 60 T C 13387970 1158 33 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCGCTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277155 13277156 13277156 upstr_intron -28 -0.45 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCGCTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 183 39 0.9927634 0.9959987 0.994381 1 0.9992262 0.9758618 0.9440695 NA NA 0.01690159 0.05192922 0.9996131 0.9599656 NA 0.03441541 NA FALSE NA 0 -1.931 rs140721909 intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 22/46 rs140721909 1 C:0.0092 C:0 C:0.0159 NA C:0 C:0.0288 C:0.0061 C:0.0034 C:0.0293 GTG T,C 0.02 19:13277156 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 non_coding_transcript_exon_variant -0.242441 0.169 0.01305 0.119485 0.2756152 0.0496227 1 TRUE 0.0200662 ENSE00001743562_021 ENSE00001743562 021 19 13387833 13388002 - 50 60 60 G A 13387971 1159 32 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCTACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277156 13277157 13277157 upstr_intron -29 -0.4666667 ACCGGGGCTCTGCTGGAACAGGCCAGTGATCTACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 91 133 1 0.9973824 0.9986912 1 0.9992262 0.9758618 0.9440695 NA NA 0.02413822 0.05331292 0.9996131 0.9599656 NA 0.03872557 NA FALSE NA 0 -0.931 . intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 22/46 1 NA TGG G,A 8.273e-06 19:13277157 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 non_coding_transcript_exon_variant 0.066556 0.25014 0.01229 0.119485 0.6690782 0.0496227 1 TRUE NA ENSE00001743562_022 ENSE00001743562 022 19 13387833 13388002 - 50 60 60 A G 13387976 1160 27 ACCGGGGCTCTGCTGGAACAGGCCAGCGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277161 13277162 13277162 upstr_intron -34 -0.55 ACCGGGGCTCTGCTGGAACAGGCCAGCGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 93 374 1 0.9978224 0.9989112 1 0.9992262 0.9758618 0.9440695 NA NA 0.02413822 0.05375292 0.9996131 0.9599656 NA 0.03894557 NA FALSE NA 0 0.257 . intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 22/46 1 NA CAC A,G 8.274e-06 19:13277162 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 non_coding_transcript_exon_variant 0.096785 0.33862 0.03164 0.119485 0.5767976 0.0496227 1 TRUE 1.24656e-05 ENSE00001743562_023 ENSE00001743562 023 19 13387833 13388002 - 50 60 60 G A 13387979 1161 24 ACCGGGGCTCTGCTGGAACAGGCTAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 13277164 13277165 13277165 upstr_intron -37 -0.6 ACCGGGGCTCTGCTGGAACAGGCTAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA mutant NA NA NA NA NA 213 1093 0.9172611 0.9999303 0.9585957 1 0.9992262 0.9758618 0.9440695 NA NA -0.05860065 0.05586083 0.9996131 0.9599656 NA -0.001369912 NA FALSE NA 0.001 2.174 . intron_variant MODIFIER CACNA1A HGNC 1388 ENST00000573710 22/46 1 NA TGG G,A 8.273e-06 19:13277165 CACNA1A HGNC Symbol protein_coding 426583 ENSG00000141837 ENSE00001743562 non_coding_transcript_exon_variant 0.447766 0.80819 0.17195 0.119485 0.7538458 0.856464 1 TRUE NA ENSE00001743562_BRK ENSE00001743562 BRK 19 13387833 13388002 - 50 60 60 A,G; T,T NA NA NA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACTTGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGCCGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA 13277018 13277188 NA NA NA NA NA NA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACTTGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGCCGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA ACCGGGGCTCTGCTGGAACAGGCCAGTGATCCACTGCTCTCTTGCTTTTATCCCTTACAGGTGCTGCGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGGTGAGTGCAGATTATAAGTGAGAACACACGGTAATTTTTTTTTTTAAGCA control NA NA NA NA NA 89 12 0 0 0 1 0.9992262 0.9758618 0.9440695 NA NA -0.9758618 -0.9440695 0.9996131 0.9599656 NA -0.9599656 NA TRUE NA NA NA NA NA NA CACNA1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA1A NA NA NA ENSG00000141837 ENSE00001743562 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001743778_000 ENSE00001743778 000 12 8086373 8086542 - 33 93 44 NA NA NA NA NA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 NA NA NA NA NA NA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA natural 148 247 0.9968249 0.9976246 0.9972248 6270 7723 0.9460421 0.960847 0.9534445 0.9968249 0.9976246 0.9460421 0.960847 0 0 0 0 0.9972248 0.9534445 0 0 0 FALSE FALSE NA NA NA NA NA SLC2A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC2A3 NA NA NA ENSG00000059804 ENSE00003497022 NA NA NA NA NA NA NA 0.5198229 FALSE NA ENSE00001743778_001 ENSE00001743778 001 12 8086373 8086542 - 33 93 44 A G 8086383 560 160 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATCAGAATTTAGA 7933776 7933946 7933786 7933787 7933787 downstr_intron 23 1.71875 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATCAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 31 22 1 1 1 265 975 0.9923149 1 0.9961574 0.9968249 0.9976246 0.9460421 0.960847 0.003175081 0.002375399 0.04627282 0.03915298 0.9972248 0.9534445 0.00277524 0.0427129 0.03993766 FALSE FALSE 0 0.999 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/2 1 NA TAA A,G 8.236e-06 12:7933787 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 non_coding_transcript_exon_variant 0.165735 0.29054 0.23979 0.08998 0.7285062 0.0625829 0.5198229 FALSE 4.12137e-06 ENSE00001743778_002 ENSE00001743778 002 12 8086373 8086542 - 33 93 44 A C 8086387 561 156 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAAGAATTAGAATTTAGA 7933776 7933946 7933790 7933791 7933791 downstr_intron 19 1.59375 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAAGAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant NA NA NA NA NA 1107 826 0.9945565 0.9954911 0.9950238 0.9968249 0.9976246 0.9460421 0.960847 NA NA 0.04851447 0.03464403 0.9972248 0.9534445 NA 0.04157925 NA FALSE NA 0 0.108 rs187155599 intron_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/2 rs187155599 1 C:0.0098 C:0 NA C:0.003 C:0 C:0 C:0.0111 C:0.0001 TAT A,C 0.001252 12:7933791 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 non_coding_transcript_exon_variant -0.04417 0.2402 0.00522 0.08998 0.6805197 0.0625829 0.5198229 FALSE 0.0011016 ENSE00001743778_003 ENSE00001743778 003 12 8086373 8086542 - 33 93 44 T C 8086389 562 154 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACGATAATTAGAATTTAGA 7933776 7933946 7933792 7933793 7933793 downstr_intron 17 1.53125 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACGATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 18 14 1 1 1 976 1422 0.9997467 0.9990307 0.9993887 0.9968249 0.9976246 0.9460421 0.960847 0.003175081 0.002375399 0.05370466 0.03818366 0.9972248 0.9534445 0.00277524 0.04594416 0.04316892 FALSE FALSE 0 -0.527 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/2 1 NA TTG T,C 1.647e-05 12:7933793 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 non_coding_transcript_exon_variant 0.080613 0.20869 0.05225 0.08998 0.5712009 0.0625829 0.5198229 FALSE 1.64448e-05 ENSE00001743778_004 ENSE00001743778 004 12 8086373 8086542 - 33 93 44 T A 8086396 563 147 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCTGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933799 7933800 7933800 downstr_intron 10 1.3125 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCTGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 56 14 0.9995426 1 0.9997713 NA NA NA NA NA 0.9968249 0.9976246 0.9460421 0.960847 0.002717684 0.002375399 NA NA 0.9972248 0.9534445 0.002546541 NA NA NA FALSE 0 -0.058 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/2 1 NA CTG T,A 5.765e-05 12:7933800 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 non_coding_transcript_exon_variant 0.673366 0.31191 0.11726 0.08998 0.7932934 0.0798762 0.5198229 FALSE 4.07734e-05 ENSE00001743778_005 ENSE00001743778 005 12 8086373 8086542 - 33 93 44 C T 8086409 564 134 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAAAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933812 7933813 7933813 exon -4 0.9677419 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAAAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant NA NA NA NA NA 1089 830 0.8279775 0.9787471 0.9033623 0.9968249 0.9976246 0.9460421 0.960847 NA NA -0.1180646 0.01790012 0.9972248 0.9534445 NA -0.05008221 NA FALSE NA 0.44 0.688 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 1 NA TCT C,T 8.236e-06 12:7933813 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 synonymous_variant 1.228177 0.46729 0.48954 0.627647 0.775923 0 0.5198229 FALSE 8.12922e-06 ENSE00001743778_006 ENSE00001743778 006 12 8086373 8086542 - 33 93 44 A G 8086412 565 131 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCCGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933815 7933816 7933816 exon -7 0.9354839 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCCGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 45 18 0.9962105 0.9968504 0.9965305 1316 59 0.9997182 1 0.9998591 0.9968249 0.9976246 0.9460421 0.960847 -0.0006143959 -0.0007742062 0.05367614 0.03915298 0.9972248 0.9534445 -0.0006943011 0.04641456 0.04710886 FALSE FALSE 0.847 0.144 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 1 NA CAG A,G 8.236e-06 12:7933816 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 synonymous_variant 0.754129 0.93359 0.85324 0.627647 0.8499298 0 0.5198229 FALSE 8.12777e-06 ENSE00001743778_007 ENSE00001743778 007 12 8086373 8086542 - 33 93 44 C G 8086417 566 126 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATCCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933820 7933821 7933821 exon -12 0.8817204 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATCCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 25 15 1 0.9992262 0.9996131 1943 999 0.9955622 0.9941963 0.9948793 0.9968249 0.9976246 0.9460421 0.960847 0.003175081 0.001601637 0.04952014 0.03334931 0.9972248 0.9534445 0.002388359 0.04143473 0.03904637 FALSE FALSE 1 6.996 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 1 NA GCA C,G 8.236e-06 12:7933821 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 missense_variant 6.838189 0.97905 0.98854 0.627647 0.9979214 0 0.5198229 FALSE 4.06303e-06 ENSE00001743778_008 ENSE00001743778 008 12 8086373 8086542 - 33 93 44 T C 8086419 567 124 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAGTGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933822 7933823 7933823 exon -14 0.8602151 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAGTGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 13 18 0.9993276 1 0.9996638 NA NA NA NA NA 0.9968249 0.9976246 0.9460421 0.960847 0.002502659 0.002375399 NA NA 0.9972248 0.9534445 0.002439029 NA NA NA FALSE 1 7.192 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 1 NA ATT T,C 8.236e-06 12:7933823 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 missense_variant 2.532447 0.95948 0.98179 0.627647 0.9982928 0 0.5198229 FALSE 4.06187e-06 ENSE00001743778_009 ENSE00001743778 009 12 8086373 8086542 - 33 93 44 A G 8086449 568 94 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTCCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933852 7933853 7933853 exon -44 0.5376344 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTCCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 17 23 1 1 1 1161 1024 0.9205887 0.9984236 0.9595061 0.9968249 0.9976246 0.9460421 0.960847 0.003175081 0.002375399 -0.02545342 0.03757662 0.9972248 0.9534445 0.00277524 0.006061596 0.003286356 FALSE FALSE 1 8.325 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 COSM3465831 1 NA GAA A,G 4.118e-05 12:7933853 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 missense_variant 6.40719 0.97551 0.9937 0.542737 0.9986275 0 0.5198229 FALSE 2.43653e-05 ENSE00001743778_010 ENSE00001743778 010 12 8086373 8086542 - 33 93 44 G A 8086457 569 86 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATTGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933860 7933861 7933861 exon 42 0.4516129 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATTGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 37 12 0.9967361 1 0.9983681 1151 21 0.9978286 0.9981669 0.9979978 0.9968249 0.9976246 0.9460421 0.960847 -8.876959e-05 0.002375399 0.05178657 0.03731991 0.9972248 0.9534445 0.001143315 0.04455324 0.04340993 FALSE FALSE 0.295 -0.837 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 1 NA CGA G,A 8.236e-06 12:7933861 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 synonymous_variant 1.410713 0.66963 0.14836 0.542737 0.7146888 0 0.5198229 FALSE 4.06091e-06 ENSE00001743778_011 ENSE00001743778 011 12 8086373 8086542 - 33 93 44 T G 8086469 570 74 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACCGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933872 7933873 7933873 exon 30 0.3225806 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACCGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 122 26 0.8009205 0.9869543 0.8939374 882 1246 0.9734992 0.9517798 0.9626395 0.9968249 0.9976246 0.9460421 0.960847 -0.1959044 -0.01067029 0.02745711 -0.009067173 0.9972248 0.9534445 -0.1032874 0.009194971 0.1124823 FALSE FALSE 0 -1.053 rs150522319 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 rs150522319 1 NA G:0.0007 G:0 CTG T,G 4.118e-05 12:7933873 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 synonymous_variant 0.045974 0.20139 0.09465 0.542737 0.6207687 0 0.5198229 FALSE 3.2487e-05 ENSE00001743778_012 ENSE00001743778 012 12 8086373 8086542 - 33 93 44 G A 8086472 571 71 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATTACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933875 7933876 7933876 exon 27 0.2903226 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATTACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant NA NA NA NA NA 535 461 0.9987627 0.9962074 0.997485 0.9968249 0.9976246 0.9460421 0.960847 NA NA 0.05272063 0.03536036 0.9972248 0.9534445 NA 0.04404049 NA FALSE NA 0 -0.31 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 1 NA TGA G,A 8.236e-06 12:7933876 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 synonymous_variant 0.70906 0.27501 0.16148 0.542737 0.7368666 0 0.5198229 FALSE 1.62434e-05 ENSE00001743778_013 ENSE00001743778 013 12 8086373 8086542 - 33 93 44 A G 8086480 572 63 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATACTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933883 7933884 7933884 exon 19 0.2043011 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATACTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 105 199 0.9585062 0.96667 0.9625881 NA NA NA NA NA 0.9968249 0.9976246 0.9460421 0.960847 -0.03831869 -0.03095462 NA NA 0.9972248 0.9534445 -0.03463665 NA NA NA FALSE 0.992 1.225 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 1 NA AAT A,G 8.236e-06 12:7933884 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 missense_variant -0.054059 0.92324 0.91355 0.542737 0.9853336 0 0.5198229 FALSE 4.06091e-06 ENSE00001743778_014 ENSE00001743778 014 12 8086373 8086542 - 33 93 44 T G 8086481 573 62 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATCTTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933884 7933885 7933885 exon 18 0.1935484 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATCTTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 27 12 1 1 1 2005 1516 0.9997534 0.9958303 0.9977919 0.9968249 0.9976246 0.9460421 0.960847 0.003175081 0.002375399 0.05371136 0.0349833 0.9972248 0.9534445 0.00277524 0.04434733 0.04157209 FALSE FALSE 1 2.82 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:7933885 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 synonymous_variant 1.00882 0.89164 0.23418 0.542737 0.8308363 0 0.5198229 FALSE 0.000105584 ENSE00001743778_015 ENSE00001743778 015 12 8086373 8086542 - 33 93 44 T C 8086481 574 62 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATGTTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933884 7933885 7933885 exon 18 0.1935484 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATGTTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant NA NA NA NA NA 1599 1256 0.9965592 0.9113978 0.9539785 0.9968249 0.9976246 0.9460421 0.960847 NA NA 0.0505171 -0.04944927 0.9972248 0.9534445 NA 0.000533914 NA FALSE NA 1 2.82 NA NA NA SLC2A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC2A3 NA NA NA ENSG00000059804 ENSE00003497022 missense_variant 0.828079 0.92971 0.7016 0.542737 0.9349618 0 0.5198229 FALSE 4.06091e-06 ENSE00001743778_016 ENSE00001743778 016 12 8086373 8086542 - 33 93 44 T G 8086490 575 53 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCCGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933893 7933894 7933894 exon 9 0.09677419 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCCGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 67 88 0.9987868 0.9998825 0.9993347 438 1437 0.9892408 0.9947436 0.9919922 0.9968249 0.9976246 0.9460421 0.960847 0.001961863 0.002257921 0.04319871 0.03389659 0.9972248 0.9534445 0.002109892 0.03854765 0.03643776 FALSE FALSE 0 -3.688 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 COSM81724 1 NA CTG T,G 8.236e-06 12:7933894 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 synonymous_variant 0.701488 0.21439 0.10301 0.542737 0.8251507 0 0.5198229 FALSE 4.06151e-06 ENSE00001743778_017 ENSE00001743778 017 12 8086373 8086542 - 33 93 44 G A 8086493 576 50 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACTCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933896 7933897 7933897 exon 6 0.06451613 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACTCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 17 17 1 1 1 797 1451 0.9916269 0.9644608 0.9780438 0.9968249 0.9976246 0.9460421 0.960847 0.003175081 0.002375399 0.04558478 0.003613809 0.9972248 0.9534445 0.00277524 0.02459929 0.02182405 FALSE FALSE 0 -0.948 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 2/3 1 NA GGG G,A 8.236e-06 12:7933897 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 synonymous_variant 0.670794 0.2422 0.18365 0.542737 0.8361515 0 0.5198229 FALSE 1.62463e-05 ENSE00001743778_018 ENSE00001743778 018 12 8086373 8086542 - 33 93 44 G A 8086505 577 38 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCTCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933908 7933909 7933909 upstr_intron -7 -0.1363636 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCTCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 35 32 0.9986612 1 0.9993306 686 214 0.9970241 0.9992603 0.9981422 0.9968249 0.9976246 0.9460421 0.960847 0.001836237 0.002375399 0.05098202 0.03841323 0.9972248 0.9534445 0.002105818 0.04469762 0.0425918 FALSE FALSE 0 -0.434 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC2A3 HGNC 11007 ENST00000476634 1/2 1 NA GGG G,A 8.236e-06 12:7933909 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 splice_region_variant 0.134375 0.20998 0.09859 0.085055 0.6597277 0.152702 0.5198229 FALSE 8.13213e-06 ENSE00001743778_019 ENSE00001743778 019 12 8086373 8086542 - 33 93 44 G C 8086508 578 35 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCGTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933911 7933912 7933912 upstr_intron -10 -0.2045455 CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCGTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant NA NA NA NA NA 1261 1356 0.9963209 0.8198501 0.9080855 0.9968249 0.9976246 0.9460421 0.960847 NA NA 0.05027879 -0.140997 0.9972248 0.9534445 NA -0.04535908 NA FALSE NA 0 -0.844 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 1/2 rs370773091 1 NA C:0 C:0.0001 AGG G,C 1.647e-05 12:7933912 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 intron_variant -0.149147 0.28277 0.41365 0.085055 0.6984075 0.131923 0.5198229 FALSE 8.12836e-06 ENSE00001743778_020 ENSE00001743778 020 12 8086373 8086542 - 33 93 44 G A 8086517 579 26 CAAGTTTTAAGGACTATTCTCTCCTTTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933920 7933921 7933921 upstr_intron -19 -0.4090909 CAAGTTTTAAGGACTATTCTCTCCTTTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 35 12 0.994226 1 0.997113 449 703 0.9954569 1 0.9977285 0.9968249 0.9976246 0.9460421 0.960847 -0.002598941 0.002375399 0.04941486 0.03915298 0.9972248 0.9534445 -0.0001117708 0.04428392 0.04439569 FALSE FALSE 0.008 -0.755 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 1/2 1 NA AGA G,A 8.24e-06 12:7933921 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 intron_variant -0.175471 0.22179 0.10847 0.085055 0.3719014 0.0816247 0.5198229 FALSE 4.06726e-06 ENSE00001743778_021 ENSE00001743778 021 12 8086373 8086542 - 33 93 44 T C 8086527 580 16 CAAGTTTTAAGGACTGTTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933930 7933931 7933931 upstr_intron -29 -0.6363636 CAAGTTTTAAGGACTGTTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant NA NA NA NA NA 649 1392 0.9999366 0.9513458 0.9756412 0.9968249 0.9976246 0.9460421 0.960847 NA NA 0.0538945 -0.009501208 0.9972248 0.9534445 NA 0.02219664 NA FALSE NA 0 -2.245 rs144699146 intron_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 1/2 rs144699146 1 C:0.0053 C:0 NA C:0 C:0 C:0 C:0.0043 C:0.0001 ATA T,C 0.0004695 12:7933931 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 intron_variant 0.055359 0.13398 0.02809 0.085055 0.5042451 0.0644426 0.5198229 FALSE 0.000400821 ENSE00001743778_022 ENSE00001743778 022 12 8086373 8086542 - 33 93 44 A T 8086528 581 15 CAAGTTTTAAGGACAATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 7933931 7933932 7933932 upstr_intron -30 -0.6590909 CAAGTTTTAAGGACAATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA mutant 19 24 1 1 1 225 1617 1 0.9974245 0.9987122 0.9968249 0.9976246 0.9460421 0.960847 0.003175081 0.002375399 0.05395792 0.03657745 0.9972248 0.9534445 0.00277524 0.04526769 0.04249245 FALSE FALSE 0.001 0.909 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A3 HGNC 11007 ENST00000476634 1/2 1 NA TAG A,T 8.236e-06 12:7933932 SLC2A3 HGNC Symbol protein_coding 17045 ENSG00000059804 ENSE00003497022 intron_variant -0.119708 0.21075 0.1806 0.085055 0.5469972 0.103564 0.5198229 FALSE 4.09957e-06 ENSE00001743778_BRK ENSE00001743778 BRK 12 8086373 8086542 - 33 93 44 A,G; T,T NA NA NA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCTTGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGCCGAGTGCCAGGCCACAATAATTAGAATTTAGA 7933776 7933946 NA NA NA NA NA NA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCTTGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGCCGAGTGCCAGGCCACAATAATTAGAATTTAGA CAAGTTTTAAGGACTATTCTCTCCTCTGTCTTCCCTCCCTCCAGGTCACCCCAGCTCTGATATTTGCCATCACAGTTGCTACAATCGGCTCTTTCCAATTTGGCTACAACACTGGGGTCATCAATGCTCCTGAGAAGGTGAGTGCCAGGCCACAATAATTAGAATTTAGA control NA NA NA NA NA 543 1061 0.009573167 0.0003014888 0.004937328 0.9968249 0.9976246 0.9460421 0.960847 NA NA -0.9364689 -0.9605455 0.9972248 0.9534445 NA -0.9485072 NA TRUE NA NA NA NA NA NA SLC2A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC2A3 NA NA NA ENSG00000059804 ENSE00003497022 NA NA NA NA NA NA NA 0.5198229 FALSE NA ENSE00001744014_000 ENSE00001744014 000 14 65198388 65198557 + 44 93 33 NA NA NA NA NA GGCTGTCAACCTTGTGCTTGACTGTCCTTTCCCTCTGCCCCTAGTGCTCCTCCCTGATGCTGATCGAAAGCACCAGAGACTCCCTGTGCTTCACTGTCACCCACTACAAGCACAGCAAGCAGCAGTACAGCATCCAGGTGAGGGGAAGGTGGGGCTCAGGGGCTAGGGAA 64731669 64731839 NA NA NA NA NA NA GGCTGTCAACCTTGTGCTTGACTGTCCTTTCCCTCTGCCCCTAGTGCTCCTCCCTGATGCTGATCGAAAGCACCAGAGACTCCCTGTGCTTCACTGTCACCCACTACAAGCACAGCAAGCAGCAGTACAGCATCCAGGTGAGGGGAAGGTGGGGCTCAGGGGCTAGGGAA GGCTGTCAACCTTGTGCTTGACTGTCCTTTCCCTCTGCCCCTAGTGCTCCTCCCTGATGCTGATCGAAAGCACCAGAGACTCCCTGTGCTTCACTGTCACCCACTACAAGCACAGCAAGCAGCAGTACAGCATCCAGGTGAGGGGAAGGTGGGGCTCAGGGGCTAGGGAA natural 509 858 0.8259396 0.85 0.8379698 63 634 0.8857449 0.7933701 0.8395575 0.8259396 0.85 0.8857449 0.7933701 0 0 0 0 0.8379698 0.8395575 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHG3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG3 NA NA NA ENSG00000126822 ENSE00001744014 NA NA NA NA NA NA NA 1.163772e-08 FALSE NA ENSE00001744014_012 ENSE00001744014 012 14 65198388 65198557 + 44 93 33 T C 65198492 646 105 TTCCCTAGCCCCTGAGCCCCACCTTCCCCTCACCTGGATGCTGTACTGCTGCTTGCTGTGCTTGTGGTGGGTGACAGTGAAGCACAGGGAGTCTCTGGTGCTTTCGATCAGCATCAGGGAGGAGCACTAGGGGCAGAGGGAAAGGACAGTCAAGCACAAGGTTGACAGCC 64731669 64731839 64731773 64731774 64731774 exon -33 0.655914 GGCTGTCAACCTTGTGCTTGACTGTCCTTTCCCTCTGCCCCTAGTGCTCCTCCCTGATGCTGATCGAAAGCACCAGAGACTCCCTGTGCTTCACTGTCACCCACCACAAGCACAGCAAGCAGCAGTACAGCATCCAGGTGAGGGGAAGGTGGGGCTCAGGGGCTAGGGAA GGCTGTCAACCTTGTGCTTGACTGTCCTTTCCCTCTGCCCCTAGTGCTCCTCCCTGATGCTGATCGAAAGCACCAGAGACTCCCTGTGCTTCACTGTCACCCACTACAAGCACAGCAAGCAGCAGTACAGCATCCAGGTGAGGGGAAGGTGGGGCTCAGGGGCTAGGGAA mutant 151 269 0.85 0.85 0.85 NA NA NA NA NA 0.8259396 0.85 0.8857449 0.7933701 0.0240604 -1.110223e-16 NA NA 0.8379698 0.8395575 0.0120302 NA NA NA FALSE 1 6.139 . missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 7/15 1 deleterious(0) probably_damaging(0.994) NA CTA T,C 8.236e-06 14:64731774 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00001744014 missense_variant 6.089646 0.99016 0.97775 0.67177 0.9984466 0 1.163772e-08 FALSE 8.12486e-06 ENSE00001744245_000 ENSE00001744245 000 18 61327983 61328152 - 51 57 62 NA NA NA NA NA CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGAAGAGACATGAAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 NA NA NA NA NA NA ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG natural 36 93 0.9914732 0.9337557 0.9626145 2885 1669 0.9310549 0.9912846 0.9611698 0.9914732 0.9337557 0.9310549 0.9912846 0 0 0 0 0.9626145 0.9611698 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001744245 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001744245_025 ENSE00001744245 025 18 61327983 61328152 - 51 57 62 T G 61328103 845 50 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCCTGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 63660868 63660869 63660869 upstr_intron -13 -0.1935484 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCCTGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 114 1024 0.9284334 1 0.9642167 0.9914732 0.9337557 0.9310549 0.9912846 NA NA -0.002621472 0.008715374 0.9626145 0.9611698 NA 0.003046951 NA FALSE NA 0 -0.025 NA NA NA SERPINB11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SERPINB11 NA NA NA ENSG00000206072 ENSE00001744245 intron_variant -0.067994 0.13762 0.00208 0.053691 0.4724619 0.110012 5.093148e-07 FALSE 8.15302e-06 ENSE00001744245_BRK ENSE00001744245 BRK 18 61327983 61328152 - 51 57 62 A,G; T,T NA NA NA ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCTTGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATCCGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 NA NA NA NA NA NA ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCTTGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATCCGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG control NA NA NA NA NA 90 211 0 0.04789144 0.02394572 0.9914732 0.9337557 0.9310549 0.9912846 NA NA -0.9310549 -0.9433932 0.9626145 0.9611698 NA -0.937224 NA TRUE NA NA NA NA NA NA SERPINB11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SERPINB11 NA NA NA ENSG00000206072 ENSE00001744245 NA NA NA NA NA NA NA 5.093148e-07 FALSE NA ENSE00001744447_000 ENSE00001744447 000 11 9457776 9457945 + 42 96 32 NA NA NA NA NA AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG 9436228 9436398 NA NA NA NA NA NA AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG natural 16 14 0.9923101 0.9883433 0.9903267 3688 2788 0.9729374 0.9907879 0.9818626 0.9923101 0.9883433 0.9729374 0.9907879 0 0 0 0 0.9903267 0.9818626 0 0 0 FALSE FALSE NA NA NA NA NA CTD-2371O3.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPO7 NA NA NA ENSG00000205339 ENSE00001744447 NA NA NA NA NA NA NA 0.9999984 TRUE NA ENSE00001744447_003 ENSE00001744447 003 11 9457776 9457945 + 42 96 32 G T 9457807 358 32 AAGGATAAAGCCTTACTGCAATTTATATTCTTTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG 9436228 9436398 9436259 9436260 9436260 upstr_intron -11 -0.2380952 AAGGATAAAGCCTTACTGCAATTTATATTCTTTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG mutant NA NA NA NA NA 314 312 0.8441809 0.9918017 0.9179913 0.9923101 0.9883433 0.9729374 0.9907879 NA NA -0.1287565 0.001013838 0.9903267 0.9818626 NA -0.06387133 NA FALSE NA 0.001 -0.875 . upstream_gene_variant MODIFIER CTD-2371O3.2 Clone_based_vega_gene NA ENST00000531111 rs372619971 1 NA T:0.0002 T:0 TGT G,T 2.471e-05 11:9436260 IPO7 HGNC Symbol protein_coding 63504 ENSG00000205339 ENSE00001744447 intron_variant 1.336409 0.20763 0.05453 0.099367 0.7195441 0.20844 0.9999984 TRUE 1.22417e-05 ENSE00001744447_004 ENSE00001744447 004 11 9457776 9457945 + 42 96 32 T C 9457811 359 36 CTGAACTACAAATCATTATTAGCTTCACTGACCTGGTCAATGCCACGCCCTTTGCACTGCAGAATGATGACCTCTAACAATTTTGCTGCATGACACTCTGCATCTTCTCCTGCAACTCCTGTAAGAACCTGATCGAAACAGAATATAAATTGCAGTAAGGCTTTATCCTT 9436228 9436398 9436263 9436264 9436264 upstr_intron -7 -0.1428571 AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTCGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG mutant NA NA NA NA NA 368 742 0.9915395 0.9911889 0.9913642 0.9923101 0.9883433 0.9729374 0.9907879 NA NA 0.0186021 0.0004010328 0.9903267 0.9818626 NA 0.009501567 NA FALSE NA 0.331 1.546 . upstream_gene_variant MODIFIER CTD-2371O3.2 Clone_based_vega_gene NA ENST00000531111 1 NA TTG T,C 8.236e-06 11:9436264 IPO7 HGNC Symbol protein_coding 63504 ENSG00000205339 ENSE00001744447 splice_region_variant 0.938505 0.30293 0.5535 0.099367 0.8953688 0.233199 0.9999984 TRUE 4.07651e-06 ENSE00001744447_005 ENSE00001744447 005 11 9457776 9457945 + 42 96 32 C T 9457825 360 50 AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTATAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG 9436228 9436398 9436277 9436278 9436278 exon 8 0.08333333 AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTATAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG mutant 77 76 0.9414954 0.8925198 0.9170076 NA NA NA NA NA 0.9923101 0.9883433 0.9729374 0.9907879 -0.05081473 -0.09582352 NA NA 0.9903267 0.9818626 -0.07331913 NA NA NA FALSE 1 6.001 . upstream_gene_variant MODIFIER CTD-2371O3.2 Clone_based_vega_gene NA ENST00000531111 1 NA ACA C,T 8.236e-06 11:9436278 IPO7 HGNC Symbol protein_coding 63504 ENSG00000205339 ENSE00001744447 missense_variant 3.988727 0.98973 0.97858 0.706548 0.9984021 0 0.9999984 TRUE 4.06636e-06 ENSE00001744447_006 ENSE00001744447 006 11 9457776 9457945 + 42 96 32 G A 9457828 361 53 CTGAACTACAAATCATTATTAGCTTCACTGACCTGGTCAATGCCACGCCCTTTGCACTGCAGAATGATGACCTCTAACAATTTTGCTGCATGACACTCTGCATCTTCTCCTGCAACTTCTGTAAGAACCTGATCAAAACAGAATATAAATTGCAGTAAGGCTTTATCCTT 9436228 9436398 9436280 9436281 9436281 exon 11 0.1145833 AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGAAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG mutant 26 13 0.9656338 0.85 0.9078169 363 2299 0.9772778 0.9921672 0.9847225 0.9923101 0.9883433 0.9729374 0.9907879 -0.0266763 -0.1383433 0.004340382 0.001379382 0.9903267 0.9818626 -0.08250982 0.002859882 0.08536971 FALSE FALSE 1 9.873 . upstream_gene_variant MODIFIER CTD-2371O3.2 Clone_based_vega_gene NA ENST00000531111 1 NA GGA G,A 8.236e-06 11:9436281 IPO7 HGNC Symbol protein_coding 63504 ENSG00000205339 ENSE00001744447 missense_variant 3.03591 0.99421 0.99417 0.706548 0.9941629 0 0.9999984 TRUE 4.06497e-06 ENSE00001744447_012 ENSE00001744447 012 11 9457776 9457945 + 42 96 32 C A 9457910 367 135 CTGAACTACAAATCATTATTAGCTTCACTGACCTGTTCAATGCCACGCCCTTTGCACTGCAGAATGATGACCTCTAACAATTTTGCTGCATGACACTCTGCATCTTCTCCTGCAACTCCTGTAAGAACCTGATCAAAACAGAATATAAATTGCAGTAAGGCTTTATCCTT 9436228 9436398 9436362 9436363 9436363 exon -4 0.96875 AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGAACAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG mutant NA NA NA NA NA 995 107 0.9956184 0.976771 0.9861947 0.9923101 0.9883433 0.9729374 0.9907879 NA NA 0.02268101 -0.01401684 0.9903267 0.9818626 NA 0.004332083 NA FALSE NA 0.997 0.419 NA NA NA CTD-2371O3.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:9436363 IPO7 HGNC Symbol protein_coding 63504 ENSG00000205339 ENSE00001744447 missense_variant 4.766643 0.96731 0.90483 0.706548 0.9961574 0 0.9999984 TRUE 4.0799e-06 ENSE00001744447_BRK ENSE00001744447 BRK 11 9457776 9457945 + 42 96 32 A,G; T,T NA NA NA AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCTTGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGCCCAGTGAAGCTAATAATGATTTGTAGTTCAG 9436228 9436398 NA NA NA NA NA NA AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCTTGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGCCCAGTGAAGCTAATAATGATTTGTAGTTCAG AAGGATAAAGCCTTACTGCAATTTATATTCTGTTTTGATCAGGTTCTTACAGGAGTTGCAGGAGAAGATGCAGAGTGTCATGCAGCAAAATTGTTAGAGGTCATCATTCTGCAGTGCAAAGGGCGTGGCATTGACCAGGTCAGTGAAGCTAATAATGATTTGTAGTTCAG control 93 79 0 0 0 NA NA NA NA NA 0.9923101 0.9883433 0.9729374 0.9907879 -0.9923101 -0.9883433 NA NA 0.9903267 0.9818626 -0.9903267 NA NA NA TRUE NA NA NA NA NA CTD-2371O3.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IPO7 NA NA NA ENSG00000205339 ENSE00001744447 NA NA NA NA NA NA NA 0.9999984 TRUE NA ENSE00001744965_000 ENSE00001744965 000 1 153713079 153713248 + 48 84 38 NA NA NA NA NA CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT 153740602 153740772 NA NA NA NA NA NA CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT natural 42 18 0.9937396 1 0.9968698 3401 2851 0.9828015 0.7949148 0.8888582 0.9937396 1 0.9828015 0.7949148 0 0 0 0 0.9968698 0.8888582 0 0 0 FALSE FALSE NA NA NA NA NA INTS3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA INTS3 NA NA NA ENSG00000143624 ENSE00003539254 NA NA NA NA NA NA NA 0.999997 TRUE NA ENSE00001744965_008 ENSE00001744965 008 1 153713079 153713248 + 48 84 38 C T 153713155 3551 77 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGATATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT 153740602 153740772 153740678 153740679 153740679 exon 29 0.3452381 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGATATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT mutant NA NA NA NA NA 496 2942 0.9909164 0.9968969 0.9939066 0.9937396 1 0.9828015 0.7949148 NA NA 0.008114841 0.2019821 0.9968698 0.8888582 NA 0.1050485 NA FALSE NA 1 5.294 . 5_prime_UTR_variant MODIFIER INTS3 HGNC 26153 ENST00000456435 2/29 1 NA ACA C,T 8.236e-06 1:153740679 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003539254 missense_variant 3.487865 0.98538 0.93699 0.706298 0.9977131 0 0.999997 TRUE 4.06088e-06 ENSE00001744965_010 ENSE00001744965 010 1 153713079 153713248 + 48 84 38 C T 153713158 3553 80 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATTGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT 153740602 153740772 153740681 153740682 153740682 exon 32 0.3809524 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATTGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT mutant NA NA NA NA NA 410 36 0.9675065 1 0.9837532 0.9937396 1 0.9828015 0.7949148 NA NA -0.01529503 0.2050852 0.9968698 0.8888582 NA 0.09489506 NA FALSE NA 0.987 5.177 rs142072279 5_prime_UTR_variant MODIFIER INTS3 HGNC 26153 ENST00000456435 2/29 rs142072279 1 NA T:0.0002 T:0 TCG C,T 1.647e-05 1:153740682 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003539254 missense_variant 4.354412 0.9905 0.96619 0.706298 0.9971579 0 0.999997 TRUE 1.21824e-05 ENSE00001744965_011 ENSE00001744965 011 1 153713079 153713248 + 48 84 38 G A 153713170 3554 92 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGATGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT 153740602 153740772 153740693 153740694 153740694 exon -41 0.5238095 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGATGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT mutant NA NA NA NA NA 64 1632 1 0.9478116 0.9739058 0.9937396 1 0.9828015 0.7949148 NA NA 0.01719847 0.1528967 0.9968698 0.8888582 NA 0.0850476 NA FALSE NA 1 8.708 . 5_prime_UTR_variant MODIFIER INTS3 HGNC 26153 ENST00000456435 2/29 1 NA GGT G,A 8.236e-06 1:153740694 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003539254 missense_variant 5.310066 0.99453 0.98953 0.706298 0.9983888 0 0.999997 TRUE 4.06081e-06 ENSE00001744965_012 ENSE00001744965 012 1 153713079 153713248 + 48 84 38 G A 153713177 3555 99 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCAGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT 153740602 153740772 153740700 153740701 153740701 exon -34 0.6071429 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCAGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT mutant 19 11 0.9842789 0.9988849 0.9915819 78 598 0.9994712 0.9966964 0.9980838 0.9937396 1 0.9828015 0.7949148 -0.009460683 -0.0011151 0.01666966 0.2017816 0.9968698 0.8888582 -0.005287891 0.1092256 0.1145135 FALSE FALSE 0 -3.041 . 5_prime_UTR_variant MODIFIER INTS3 HGNC 26153 ENST00000456435 2/29 COSM1638009 1 NA CGG C,A 1.647e-05 1:153740701 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003539254 synonymous_variant 1.814876 0.09147 0.01613 0.706298 0.7865681 0 0.999997 TRUE 1.62431e-05 ENSE00001744965_014 ENSE00001744965 014 1 153713079 153713248 + 48 84 38 C A 153713197 3557 119 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGACCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT 153740602 153740772 153740720 153740721 153740721 exon -14 0.8452381 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGACCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT mutant NA NA NA NA NA 46 43 1 1 1 0.9937396 1 0.9828015 0.7949148 NA NA 0.01719847 0.2050852 0.9968698 0.8888582 NA 0.1111418 NA FALSE NA 1 6.9 rs187457797 5_prime_UTR_variant MODIFIER INTS3 HGNC 26153 ENST00000456435 2/29 rs187457797 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GCC C,A 8.236e-06 1:153740721 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003539254 missense_variant 7.379863 0.99462 0.98617 0.706298 0.9977916 0 0.999997 TRUE NA ENSE00001744965_016 ENSE00001744965 016 1 153713079 153713248 + 48 84 38 G A 153713207 3559 129 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCATATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT 153740602 153740772 153740730 153740731 153740731 exon -4 0.9642857 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCATATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT mutant NA NA NA NA NA 896 2753 0.8818684 0.925766 0.9038172 0.9937396 1 0.9828015 0.7949148 NA NA -0.1009331 0.1308512 0.9968698 0.8888582 NA 0.01495903 NA FALSE NA 0.818 -0.001 . 5_prime_UTR_variant MODIFIER INTS3 HGNC 26153 ENST00000456435 2/29 1 NA CGT G,A 2.471e-05 1:153740731 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003539254 synonymous_variant 1.898555 0.97398 0.692 0.722319 0.7239128 0 0.999997 TRUE 2.43661e-05 ENSE00001744965_017 ENSE00001744965 017 1 153713079 153713248 + 48 84 38 T A 153713226 3560 148 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGACCCTGCAGCCACTGCTGCTGCT 153740602 153740772 153740749 153740750 153740750 downstr_intron 16 1.432432 CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGACCCTGCAGCCACTGCTGCTGCT CTAAGTGGTGTTATGACACACTGTTCATTTTTTCTCACCCCTTCCCAGAGATTGGAAAGGTGTATGAGCATTGTGACATCGATGACTGCTGGTGTCTCGGAGAGAGAAGCCAATGATGCCCTCAATGCGTATGTAAGTAGAATGCTGTCCCTGCAGCCACTGCTGCTGCT mutant NA NA NA NA NA 95 98 1 1 1 0.9937396 1 0.9828015 0.7949148 NA NA 0.01719847 0.2050852 0.9968698 0.8888582 NA 0.1111418 NA FALSE NA 0 0.941 . intron_variant MODIFIER INTS3 HGNC 26153 ENST00000456435 2/28 1 NA GTC T,A 8.236e-06 1:153740750 INTS3 HGNC Symbol protein_coding 46741 ENSG00000143624 ENSE00003539254 intron_variant 0.35794 0.23635 0.21305 0.062308 0.322592 0.0593739 0.999997 TRUE 4.0618e-06 ENSE00001745049_000 ENSE00001745049 000 14 68042059 68042228 + 50 81 39 NA NA NA NA NA CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 NA NA NA NA NA NA CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT natural NA NA NA NA NA 2669 1841 0.952501 0.9440916 0.9482963 NA NA 0.952501 0.9440916 NA NA 0 0 NA 0.9482963 NA 0 NA FALSE NA NA NA NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHH1 NA NA NA ENSG00000054690 ENSE00003635544 NA NA NA NA NA NA NA 0.0006602846 FALSE NA ENSE00001745049_001 ENSE00001745049 001 14 68042059 68042228 + 50 81 39 T C 68042069 780 11 CTTCTAGAGTCACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575351 67575352 67575352 upstr_intron -40 -0.78 CTTCTAGAGTCACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 819 154 0.9990413 0.9989716 0.9990065 NA NA 0.952501 0.9440916 NA NA 0.0465404 0.05488009 NA 0.9482963 NA 0.05071024 NA FALSE NA 0 -0.402 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 rs377713242 1 NA C:0.0003 C:0 TTA T,C 2.491e-05 14:67575352 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 intron_variant -0.200072 0.13951 0.00618 0.053691 0.5657351 0.054035 0.0006602846 FALSE 1.72793e-05 ENSE00001745049_004 ENSE00001745049 004 14 68042059 68042228 + 50 81 39 C T 68042121 783 63 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCTACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575403 67575404 67575404 exon 13 0.1604938 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCTACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 166 36 1 1 1 NA NA 0.952501 0.9440916 NA NA 0.04749905 0.05590844 NA 0.9482963 NA 0.05170375 NA FALSE NA 1 3.362 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 1 NA CCA C,T 8.275e-06 14:67575404 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 missense_variant 2.247449 0.98332 0.93894 0.706298 0.987587 0 0.0006602846 FALSE NA ENSE00001745049_005 ENSE00001745049 005 14 68042059 68042228 + 50 81 39 G A 68042132 784 74 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTAGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575414 67575415 67575415 exon 24 0.2962963 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTAGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 47 19 1 1 1 NA NA 0.952501 0.9440916 NA NA 0.04749905 0.05590844 NA 0.9482963 NA 0.05170375 NA FALSE NA 1 1.467 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 1 NA TGG G,A 3.309e-05 14:67575415 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 synonymous_variant 1.626664 0.98317 0.89476 0.706298 0.7515392 0 0.0006602846 FALSE 2.07183e-05 ENSE00001745049_006 ENSE00001745049 006 14 68042059 68042228 + 50 81 39 G A 68042133 785 75 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGATCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575415 67575416 67575416 exon 25 0.308642 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGATCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 2981 701 0.9990435 0.8340604 0.9165519 NA NA 0.952501 0.9440916 NA NA 0.04654258 -0.1100312 NA 0.9482963 NA -0.03174431 NA FALSE NA 1 9.873 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 1 NA GGT G,A 8.273e-06 14:67575416 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 missense_variant 6.741493 0.99632 0.99496 0.706298 0.9988645 0 0.0006602846 FALSE 8.27993e-06 ENSE00001745049_008 ENSE00001745049 008 14 68042059 68042228 + 50 81 39 C T 68042141 787 83 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGTGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575423 67575424 67575424 exon 33 0.4074074 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGTGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 438 988 0.9938001 0.9939688 0.9938845 NA NA 0.952501 0.9440916 NA NA 0.04129913 0.04987729 NA 0.9482963 NA 0.04558821 NA FALSE NA 0.962 0.063 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 rs372514674 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 T:0 T:0.0001 GCG C,T 6.618e-05 14:67575424 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 synonymous_variant 1.9961 0.96367 0.37481 0.706298 0.4411936 0 0.0006602846 FALSE 3.32038e-05 ENSE00001745049_010 ENSE00001745049 010 14 68042059 68042228 + 50 81 39 G T 68042151 789 93 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTTGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575433 67575434 67575434 exon -39 0.5308642 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTTGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 109 2067 1 0.9982481 0.999124 NA NA 0.952501 0.9440916 NA NA 0.04749905 0.05415649 NA 0.9482963 NA 0.05082777 NA FALSE NA 1 9.873 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 rs374024390 1 NA T:0 T:0.0001 TGG G,T 1.654e-05 14:67575434 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 missense_variant 6.251981 0.99654 0.99573 0.706298 0.9933126 0 0.0006602846 FALSE NA ENSE00001745049_012 ENSE00001745049 012 14 68042059 68042228 + 50 81 39 A G 68042164 791 106 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTGCTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575446 67575447 67575447 exon -26 0.691358 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTGCTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 97 134 1 1 1 NA NA 0.952501 0.9440916 NA NA 0.04749905 0.05590844 NA 0.9482963 NA 0.05170375 NA FALSE NA 1 3.589 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:67575447 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 missense_variant 2.799884 0.98541 0.92705 0.706298 0.9982082 0 0.0006602846 FALSE 4.20112e-06 ENSE00001745049_013 ENSE00001745049 013 14 68042059 68042228 + 50 81 39 C T 68042172 792 114 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATTGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575454 67575455 67575455 exon -18 0.7901235 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATTGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 500 297 0.9980914 1 0.9990457 NA NA 0.952501 0.9440916 NA NA 0.04559047 0.05590844 NA 0.9482963 NA 0.05074945 NA FALSE NA 1 6.079 NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:67575455 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 missense_variant 8.27722 0.97101 0.94737 0.706298 0.9990903 0 0.0006602846 FALSE 1.70536e-05 ENSE00001745049_015 ENSE00001745049 015 14 68042059 68042228 + 50 81 39 G A 68042173 794 115 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCAGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575455 67575456 67575456 exon -17 0.8024691 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCAGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 441 554 1 0.9998625 0.9999312 NA NA 0.952501 0.9440916 NA NA 0.04749905 0.05577093 NA 0.9482963 NA 0.05163499 NA FALSE NA 1 9.873 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 1 NA CGG G,A 5.791e-05 14:67575456 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 missense_variant 7.727627 0.97197 0.97191 0.706298 0.999579 0 0.0006602846 FALSE 3.87353e-05 ENSE00001745049_016 ENSE00001745049 016 14 68042059 68042228 + 50 81 39 T C 68042180 795 122 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCACGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575462 67575463 67575463 exon -10 0.8888889 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCACGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 465 655 0.9986649 1 0.9993324 NA NA 0.952501 0.9440916 NA NA 0.04616391 0.05590844 NA 0.9482963 NA 0.05103617 NA FALSE NA 0.993 0.157 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 1 NA ATG T,C 8.273e-06 14:67575463 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 synonymous_variant 0.264014 0.90792 0.74267 0.706298 0.5630589 0 0.0006602846 FALSE 8.67995e-06 ENSE00001745049_017 ENSE00001745049 017 14 68042059 68042228 + 50 81 39 G A 68042183 796 125 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAAGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575465 67575466 67575466 exon -7 0.9259259 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAAGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 186 133 0.9752042 0.9946774 0.9849408 NA NA 0.952501 0.9440916 NA NA 0.02270326 0.05058585 NA 0.9482963 NA 0.03664456 NA FALSE NA 1 1.694 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 rs370715302 1 NA A:0 A:0.0001 AGG G,A 8.275e-06 14:67575466 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 synonymous_variant 1.259697 0.93573 0.7732 0.706298 0.5897674 0 0.0006602846 FALSE NA ENSE00001745049_019 ENSE00001745049 019 14 68042059 68042228 + 50 81 39 C T 68042186 798 128 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGATAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575468 67575469 67575469 exon -4 0.962963 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGATAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 17 19 1 1 1 NA NA 0.952501 0.9440916 NA NA 0.04749905 0.05590844 NA 0.9482963 NA 0.05170375 NA FALSE NA 1 2.676 NA NA NA PLEKHH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:67575469 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 synonymous_variant 1.802694 0.9539 0.87257 0.706298 0.5239998 0 0.0006602846 FALSE 4.45569e-06 ENSE00001745049_022 ENSE00001745049 022 14 68042059 68042228 + 50 81 39 C T 68042204 801 146 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTTCTCACAATACCCACTCTCCTGCTT 67575341 67575511 67575486 67575487 67575487 downstr_intron 15 1.394737 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTTCTCACAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 17 1339 0.8 0.8892998 0.8446499 NA NA 0.952501 0.9440916 NA NA -0.152501 -0.05479178 NA 0.9482963 NA -0.1036464 NA FALSE NA 0.002 0.434 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 1 NA TCC C,T 3.324e-05 14:67575487 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 non_coding_transcript_exon_variant 0.410078 0.22955 0.01621 0.099367 0.551432 0.0450493 0.0006602846 FALSE 3.06573e-05 ENSE00001745049_023 ENSE00001745049 023 14 68042059 68042228 + 50 81 39 A G 68042208 802 150 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCGCAATACCCACTCTCCTGCTT 67575341 67575511 67575490 67575491 67575491 downstr_intron 19 1.5 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCGCAATACCCACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 185 705 0.9991706 0.8093454 0.904258 NA NA 0.952501 0.9440916 NA NA 0.04666969 -0.1347462 NA 0.9482963 NA -0.04403825 NA FALSE NA 0 -1.803 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 1 NA CAC A,G 1.664e-05 14:67575491 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 non_coding_transcript_exon_variant -0.019684 0.24345 0.09891 0.099367 0.3072723 0.0450493 0.0006602846 FALSE 1.0437e-05 ENSE00001745049_024 ENSE00001745049 024 14 68042059 68042228 + 50 81 39 C T 68042216 803 158 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCTACTCTCCTGCTT 67575341 67575511 67575498 67575499 67575499 downstr_intron 27 1.710526 CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCTACTCTCCTGCTT CTTCTAGAGTTACCTAGTTCTCATAATGCCAGTTCATTTCTGTCTTACAGGTAAAGCATGGCCACTCCAAGGTGGTCTGGTGCGCTCTTGTTGGGAAAATCTTCTACTACTATCGGAGCCATGAGGACAAGGTACTTCTCAGCCTCCTCACAATACCCACTCTCCTGCTT mutant NA NA NA NA NA 513 337 1 0.9883674 0.9941837 NA NA 0.952501 0.9440916 NA NA 0.04749905 0.04427584 NA 0.9482963 NA 0.04588744 NA FALSE NA 0 -0.315 . upstream_gene_variant MODIFIER PLEKHH1 HGNC 17733 ENST00000558296 rs552988910 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCA C,T 8.358e-06 14:67575499 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003635544 non_coding_transcript_exon_variant 0.286207 0.22682 0.073 0.099367 0.804061 0.0594102 0.0006602846 FALSE 5.53042e-06 ENSE00001745083_000 ENSE00001745083 000 12 48371330 48371499 - 53 54 63 NA NA NA NA NA GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 NA NA NA NA NA NA GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG natural 65 63 0.99336 0.9954421 0.9944011 3458 2952 0.8435414 0.9735366 0.908539 0.99336 0.9954421 0.8435414 0.9735366 0 0 0 0 0.9944011 0.908539 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003517693 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001745083_001 ENSE00001745083 001 12 48371330 48371499 - 53 54 63 T C 48371340 1004 160 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACGTTGCCTCGGG 47977546 47977716 47977556 47977557 47977557 downstr_intron 43 1.826923 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACGTTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant 13 30 0.9786859 0.9520593 0.9653726 181 958 1 0.9963982 0.9981991 0.99336 0.9954421 0.8435414 0.9735366 -0.01467419 -0.04338278 0.1564586 0.0228616 0.9944011 0.908539 -0.02902849 0.08966008 0.1186886 FALSE FALSE 0 -0.495 rs41272745 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs41272745 1 C:0.0298 C:0.1059 C:0.0115 NA C:0 C:0.001 C:0 C:0.0887 C:0.0008 ATG T,C 0.008484 12:47977557 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant -0.042188 0.18937 0.02713 0.053691 0.6770292 0.142212 1 TRUE 0.0065329 ENSE00001745083_002 ENSE00001745083 002 12 48371330 48371499 - 53 54 63 C A 48371343 1005 157 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGTACATTGCCTCGGG 47977546 47977716 47977559 47977560 47977560 downstr_intron 40 1.769231 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGTACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 149 165 0.9997235 1 0.9998617 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.156182 0.0264634 0.9944011 0.908539 NA 0.09132272 NA FALSE NA 0 -0.366 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA TCC C,A 8.237e-06 12:47977560 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant 0.655193 0.22461 0.08883 0.053691 0.8012512 0.142212 1 TRUE 8.17795e-06 ENSE00001745083_003 ENSE00001745083 003 12 48371330 48371499 - 53 54 63 C G 48371344 1006 156 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGACGACATTGCCTCGGG 47977546 47977716 47977560 47977561 47977561 downstr_intron 39 1.75 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGACGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 44 597 1 0.9956113 0.9978057 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1564586 0.02207473 0.9944011 0.908539 NA 0.08926665 NA FALSE NA 0 1.564 rs41272043 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs41272043 1 G:0.0074 G:0.025 G:0.0058 NA G:0 G:0 G:0 G:0.0179 G:0 CCT C,G 0.001705 12:47977561 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant 0.187931 0.20197 0.17998 0.053691 0.7341534 0.142212 1 TRUE 0.00134056 ENSE00001745083_004 ENSE00001745083 004 12 48371330 48371499 - 53 54 63 A G 48371351 1007 149 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGCTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977567 47977568 47977568 downstr_intron 32 1.615385 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGCTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 414 124 0.9988877 1 0.9994438 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1553463 0.0264634 0.9944011 0.908539 NA 0.09090483 NA FALSE NA 0 -2.93 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA AAC A,G 1.647e-05 12:47977568 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant 0.504099 0.14818 0.00551 0.080785 0.7084601 0.142212 1 TRUE 4.0788e-06 ENSE00001745083_006 ENSE00001745083 006 12 48371330 48371499 - 53 54 63 C T 48371359 1009 141 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTACAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977575 47977576 47977576 downstr_intron 24 1.461538 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTACAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant 143 152 0.8660065 0.8592902 0.8626483 601 703 0.8953681 0.998855 0.9471116 0.99336 0.9954421 0.8435414 0.9735366 -0.1273536 -0.1361519 0.05182669 0.0253184 0.9944011 0.908539 -0.1317527 0.03857254 0.1703253 FALSE FALSE 0 0.087 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GCA C,T 8.237e-06 12:47977576 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant 0.299737 0.17423 0.02844 0.080785 0.4575205 0.169256 1 TRUE 4.07309e-06 ENSE00001745083_007 ENSE00001745083 007 12 48371330 48371499 - 53 54 63 C T 48371369 1010 131 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTATCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977585 47977586 47977586 downstr_intron 14 1.269231 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTATCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 764 611 0.9224467 0.9988709 0.9606588 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.07890525 0.02533431 0.9944011 0.908539 NA 0.05211978 NA FALSE NA 0.003 0.655 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs371697518 1 NA T:0.0002 T:0 ACA C,T 2.471e-05 12:47977586 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant 0.307484 0.2601 0.15623 0.080785 0.676777 0.156692 1 TRUE 1.62775e-05 ENSE00001745083_008 ENSE00001745083 008 12 48371330 48371499 - 53 54 63 C T 48371382 1011 118 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGATGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977598 47977599 47977599 downstr_intron 1 1.019231 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGATGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 12 19 0.9292594 0.9716939 0.9504766 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.08571792 -0.001842742 0.9944011 0.908539 NA 0.04193759 NA FALSE NA 1 5.944 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA ACC C,T 8.237e-06 12:47977599 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 splice_donor_variant 5.191464 0.99347 0.99098 0.080785 0.9954558 0.973084 1 TRUE 4.06653e-06 ENSE00001745083_009 ENSE00001745083 009 12 48371330 48371499 - 53 54 63 T C 48371389 1012 111 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGGGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977605 47977606 47977606 exon -7 0.8888889 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGGGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 217 502 0.9308966 0.9970662 0.9639814 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.08735521 0.02352957 0.9944011 0.908539 NA 0.05544239 NA FALSE NA 0.004 0.385 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CTC T,C 8.237e-06 12:47977606 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 synonymous_variant -0.026438 0.97679 0.95412 0.626454 0.751049 0 1 TRUE 4.0657e-06 ENSE00001745083_010 ENSE00001745083 010 12 48371330 48371499 - 53 54 63 C T 48371397 1013 103 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCACTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977613 47977614 47977614 exon -15 0.7407407 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCACTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 882 236 0.9998262 1 0.9999131 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1562848 0.0264634 0.9944011 0.908539 NA 0.09137409 NA FALSE NA 0.905 1.387 rs41272041 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs41272041 1 T:0.0016 T:0.0061 T:0 NA T:0 T:0 T:0 T:0.0075 T:0.0001 GCG C,T 0.0006425 12:47977614 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 missense_variant 3.729087 0.98423 0.93559 0.626454 0.9905357 0 1 TRUE 0.000512212 ENSE00001745083_011 ENSE00001745083 011 12 48371330 48371499 - 53 54 63 G A 48371398 1014 102 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGTGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977614 47977615 47977615 exon -16 0.7222222 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGTGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 586 1364 0.9961609 0.9997205 0.9979407 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1526194 0.0261839 0.9944011 0.908539 NA 0.08940167 NA FALSE NA 0 -2.219 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs376722458 1 NA A:0 A:0.0001 CGC G,A 7.413e-05 12:47977615 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 synonymous_variant 1.093374 0.36827 0.01621 0.626454 0.7346363 0 1 TRUE 5.28679e-05 ENSE00001745083_012 ENSE00001745083 012 12 48371330 48371499 - 53 54 63 C T 48371403 1015 97 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAAATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977619 47977620 47977620 exon -21 0.6296296 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAAATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant 23 11 1 1 1 525 177 0.9905462 1 0.9952731 0.99336 0.9954421 0.8435414 0.9735366 0.006639954 0.004557944 0.1470048 0.0264634 0.9944011 0.908539 0.005598949 0.08673411 0.08113516 FALSE FALSE 1 5.939 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA TCT C,T 1.647e-05 12:47977620 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 missense_variant 5.532394 0.99423 0.99122 0.675385 0.9983212 0 1 TRUE 1.21944e-05 ENSE00001745083_013 ENSE00001745083 013 12 48371330 48371499 - 53 54 63 T A 48371404 1016 96 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGTGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977620 47977621 47977621 exon -22 0.6111111 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGTGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 811 295 0.9694352 0.9924192 0.9809272 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1258938 0.01888262 0.9944011 0.908539 NA 0.07238821 NA FALSE NA 0.392 -0.383 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CTC T,A 8.237e-06 12:47977621 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 missense_variant 4.38598 0.96915 0.6174 0.675385 0.9938607 0 1 TRUE 4.06474e-06 ENSE00001745083_014 ENSE00001745083 014 12 48371330 48371499 - 53 54 63 G C 48371411 1017 89 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCGTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977627 47977628 47977628 exon 26 0.4814815 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCGTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 687 750 0.9993392 0.9197367 0.9595379 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1557978 -0.05379992 0.9944011 0.908539 NA 0.05099892 NA FALSE NA 1 7.826 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 CD063500 1 NA AGG G,C 8.237e-06 12:47977628 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 missense_variant 4.395708 0.99466 0.99435 0.675385 0.9944034 0 1 TRUE 4.06653e-06 ENSE00001745083_016 ENSE00001745083 016 12 48371330 48371499 - 53 54 63 G C 48371415 1019 85 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCGCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977631 47977632 47977632 exon 22 0.4074074 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCGCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 236 128 1 0.9978912 0.9989456 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1564586 0.02435463 0.9944011 0.908539 NA 0.0904066 NA FALSE NA 1 5.62 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GGG G,C 8.237e-06 12:47977632 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 missense_variant 1.723471 0.99466 0.9925 0.675385 0.9281232 0 1 TRUE 4.0657e-06 ENSE00001745083_017 ENSE00001745083 017 12 48371330 48371499 - 53 54 63 G C 48371416 1020 84 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGGCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977632 47977633 47977633 exon 21 0.3888889 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGGCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 269 565 1 0.9925866 0.9962933 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1564586 0.01905001 0.9944011 0.908539 NA 0.08775429 NA FALSE NA 0 -2.371 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GGC G,C 8.237e-06 12:47977633 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 synonymous_variant 0.521004 0.2208 0.10912 0.675385 0.5807475 0 1 TRUE 1.21985e-05 ENSE00001745083_018 ENSE00001745083 018 12 48371330 48371499 - 53 54 63 A T 48371425 1021 75 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGAGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977641 47977642 47977642 exon 12 0.2222222 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGAGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 124 658 1 0.9965064 0.9982532 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1564586 0.02296975 0.9944011 0.908539 NA 0.08971416 NA FALSE NA 0 0.149 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CAC A,T 8.237e-06 12:47977642 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 synonymous_variant -0.703603 0.96245 0.65371 0.675385 0.748492 0 1 TRUE 4.06712e-06 ENSE00001745083_019 ENSE00001745083 019 12 48371330 48371499 - 53 54 63 G A 48371430 1022 70 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCTCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977646 47977647 47977647 exon 7 0.1296296 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCTCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 952 280 0.9943621 0.848856 0.921609 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1508207 -0.1246806 0.9944011 0.908539 NA 0.01307 NA FALSE NA 1 5.484 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA GGG G,A 8.237e-06 12:47977647 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 missense_variant 3.117958 0.98976 0.98727 0.675385 0.9914533 0 1 TRUE 4.06881e-06 ENSE00001745083_020 ENSE00001745083 020 12 48371330 48371499 - 53 54 63 T G 48371433 1023 67 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGACGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977649 47977650 47977650 exon 4 0.07407407 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGACGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 41 458 1 0.9987438 0.9993719 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1564586 0.02520717 0.9944011 0.908539 NA 0.09083287 NA FALSE NA 0.01 3.429 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CTT T,G 1.647e-05 12:47977650 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 missense_variant 2.597451 0.98746 0.95584 0.675385 0.9797444 0 1 TRUE 1.62772e-05 ENSE00001745083_021 ENSE00001745083 021 12 48371330 48371499 - 53 54 63 C T 48371460 1024 40 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTACATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977676 47977677 47977677 upstr_intron -24 -0.3650794 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTACATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant 46 16 0.9328239 0.9896456 0.9612347 570 823 0.998547 0.9213636 0.9599553 0.99336 0.9954421 0.8435414 0.9735366 -0.06053613 -0.005796471 0.1550056 -0.05217303 0.9944011 0.908539 -0.0331663 0.05141627 0.08458257 FALSE FALSE 0 -0.201 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47977677 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant 0.142636 0.21034 0.0457 0.126639 0.3523831 0.0548645 1 TRUE 1.22864e-05 ENSE00001745083_022 ENSE00001745083 022 12 48371330 48371499 - 53 54 63 C G 48371460 1025 40 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTCCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977676 47977677 47977677 upstr_intron -24 -0.3650794 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTCCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 851 839 0.8350066 0.9979208 0.9164637 0.99336 0.9954421 0.8435414 0.9735366 NA NA -0.008534809 0.02438419 0.9944011 0.908539 NA 0.007924691 NA FALSE NA 0 -0.201 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003517693 intron_variant -0.041919 0.24369 0.14221 0.126639 0.4010671 0.0548645 1 TRUE 4.09547e-06 ENSE00001745083_023 ENSE00001745083 023 12 48371330 48371499 - 53 54 63 A T 48371461 1026 39 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGAGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977677 47977678 47977678 upstr_intron -25 -0.3809524 GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGAGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant 13 10 0.9993276 1 0.9996638 958 435 0.9984994 0.9992722 0.9988858 0.99336 0.9954421 0.8435414 0.9735366 0.005967532 0.004557944 0.154958 0.02573556 0.9944011 0.908539 0.005262738 0.09034677 0.08508403 FALSE FALSE 0 -0.057 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 rs532142721 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CAC A,T 8.238e-06 12:47977678 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant -0.622545 0.21697 0.04638 0.126639 0.4165818 0.0548645 1 TRUE 1.63972e-05 ENSE00001745083_024 ENSE00001745083 024 12 48371330 48371499 - 53 54 63 C G 48371486 1027 14 GGGAGCAGAGGGGCAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977702 47977703 47977703 upstr_intron -50 -0.7777778 GGGAGCAGAGGGGCAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 288 21 0.9932358 1 0.9966179 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1496943 0.0264634 0.9944011 0.908539 NA 0.08807886 NA FALSE NA 0 -0.39 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA TCC C,G 6.594e-05 12:47977703 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant 0.330003 0.42066 0.09877 0.126639 0.801063 0.0518458 1 TRUE 4.41267e-05 ENSE00001745083_025 ENSE00001745083 025 12 48371330 48371499 - 53 54 63 C G 48371487 1028 13 GGGAGCAGAGGGCGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977703 47977704 47977704 upstr_intron -51 -0.7936508 GGGAGCAGAGGGCGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 490 867 0.8604924 0.9971858 0.9288391 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.01695094 0.02364919 0.9944011 0.908539 NA 0.02030006 NA FALSE NA 0 0.705 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CCC C,G 3.297e-05 12:47977704 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant 0.430735 0.50944 0.27924 0.126639 0.7364723 0.0518458 1 TRUE 3.59105e-05 ENSE00001745083_026 ENSE00001745083 026 12 48371330 48371499 - 53 54 63 C G 48371488 1029 12 GGGAGCAGAGGCGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 47977704 47977705 47977705 upstr_intron -52 -0.8095238 GGGAGCAGAGGCGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG mutant NA NA NA NA NA 196 422 1 1 1 0.99336 0.9954421 0.8435414 0.9735366 NA NA 0.1564586 0.0264634 0.9944011 0.908539 NA 0.09146098 NA FALSE NA 0 -0.659 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000483376 1 NA CCC C,G 1.649e-05 12:47977705 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00003517693 intron_variant -0.533681 0.17208 0.1322 0.126639 0.3520193 0.0518458 1 TRUE 4.47924e-06 ENSE00001745083_BRK ENSE00001745083 BRK 12 48371330 48371499 - 53 54 63 A,G; T,T NA NA NA GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCTTGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGCCGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG 47977546 47977716 NA NA NA NA NA NA GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCTTGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGCCGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG GGGAGCAGAGGGGGAGATGGGCAGGAAGCAGCTCTAAGTGCATTCTTGTTTCACTTTGTCCAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGTGAGTGTCTGGTGTCTGTGTGTGCAGTGGGTTGGGGAGGACATTGCCTCGGG control 146 99 0 0 0 1060 19 0 0 0 0.99336 0.9954421 0.8435414 0.9735366 -0.99336 -0.9954421 -0.8435414 -0.9735366 0.9944011 0.908539 -0.9944011 -0.908539 0.08586203 TRUE TRUE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00003517693 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001745501_000 ENSE00001745501 000 1 86340907 86341076 - 53 54 63 NA NA NA NA NA TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC 85875223 85875393 NA NA NA NA NA NA TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC natural NA NA NA NA NA 2798 1939 0.9601478 0.9302964 0.9452221 NA NA 0.9601478 0.9302964 NA NA 0 0 NA 0.9452221 NA 0 NA FALSE NA NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003552621 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001745501_002 ENSE00001745501 002 1 86340907 86341076 - 53 54 63 T C 86340942 2330 135 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATGAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC 85875223 85875393 85875258 85875259 85875259 downstr_intron 18 1.346154 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATGAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 224 155 1 1 1 NA NA 0.9601478 0.9302964 NA NA 0.03985216 0.06970361 NA 0.9452221 NA 0.05477789 NA FALSE NA 0 0.119 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 34/57 1 NA TTA T,C 7.452e-05 1:85875259 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 intron_variant 0.1241 0.2152 0.10254 0.164513 0.6496669 0.0640786 1.063411e-25 FALSE 4.47686e-05 ENSE00001745501_003 ENSE00001745501 003 1 86340907 86341076 - 53 54 63 T A 86340948 2331 129 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTATAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC 85875223 85875393 85875264 85875265 85875265 downstr_intron 12 1.230769 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTATAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 187 60 1 1 1 NA NA 0.9601478 0.9302964 NA NA 0.03985216 0.06970361 NA 0.9452221 NA 0.05477789 NA FALSE NA 0 0.091 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 34/57 1 NA TTT T,A 8.28e-06 1:85875265 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 intron_variant 1.38725 0.19822 0.05019 0.164513 0.7974944 0.162419 1.063411e-25 FALSE 4.06785e-06 ENSE00001745501_006 ENSE00001745501 006 1 86340907 86341076 - 53 54 63 G A 86340964 2334 113 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGTAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC 85875223 85875393 85875280 85875281 85875281 exon -5 0.9259259 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGTAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 346 620 0.999881 0.9985756 0.9992283 NA NA 0.9601478 0.9302964 NA NA 0.03973316 0.06827921 NA 0.9452221 NA 0.05400619 NA FALSE NA 1 3.68 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 34/58 rs572025648 1 benign(0.033) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 8.279e-06 1:85875281 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 missense_variant 3.602725 0.98557 0.90785 0.638212 0.9673429 0 1.063411e-25 FALSE 2.03315e-05 ENSE00001745501_008 ENSE00001745501 008 1 86340907 86341076 - 53 54 63 G C 86340970 2336 107 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACGAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC 85875223 85875393 85875286 85875287 85875287 exon -11 0.8148148 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACGAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 22 91 1 1 1 NA NA 0.9601478 0.9302964 NA NA 0.03985216 0.06970361 NA 0.9452221 NA 0.05477789 NA FALSE NA 1 2.724 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 34/58 rs201495212 1 probably_damaging(0.969) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TGG G,C 8.279e-06 1:85875287 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 missense_variant 4.082374 0.97287 0.87559 0.693126 0.915493 0 1.063411e-25 FALSE 4.06607e-06 ENSE00001745501_010 ENSE00001745501 010 1 86340907 86341076 - 53 54 63 C T 86340995 2338 82 GGGGGTTCAATGGTGAAAGTTTAGAGATTCTCCTTTATTTTTTAGAAGGTTACCTTTGCACCTGGTTCACCTTGCAGACCAGACTCTCTCTCAGTGCCTGGAGGTCCCTACAAGAGAATAATTTAACACATTACAAAGGCAATAGCAATCTCATGAGAAGATGGTGGTAA 85875223 85875393 85875311 85875312 85875312 exon 19 0.3518519 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGAGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 19 1621 1 0.9666848 0.9833424 NA NA 0.9601478 0.9302964 NA NA 0.03985216 0.03638844 NA 0.9452221 NA 0.0381203 NA FALSE NA 1 4.119 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 34/58 rs377129438 1 probably_damaging(1) NA T:0 T:0.0001 CCC C,T 1.656e-05 1:85875312 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 missense_variant 6.031577 0.98521 0.90634 0.752111 0.998158 0 1.063411e-25 FALSE 1.21982e-05 ENSE00001745501_012 ENSE00001745501 012 1 86340907 86341076 - 53 54 63 C T 86341004 2340 73 GGGGGTTCAATGGTGAAAGTTTAGAGATTCTCCTTTATTTTTTAGAAGGTTACCTTTGCACCTGGTTCACCTTGCAGACCAGACTCTCCCTCAGTGCTTGGAGGTCCCTACAAGAGAATAATTTAACACATTACAAAGGCAATAGCAATCTCATGAGAAGATGGTGGTAA 85875223 85875393 85875320 85875321 85875321 exon 10 0.1851852 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAAGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 18 108 1 1 1 NA NA 0.9601478 0.9302964 NA NA 0.03985216 0.06970361 NA 0.9452221 NA 0.05477789 NA FALSE NA 1 4.119 . missense_variant MODERATE COL24A1 HGNC 20821 ENST00000436319 34/58 COSM211429 1 probably_damaging(1) NA CCT C,T 1.656e-05 1:85875321 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 missense_variant 4.834963 0.94051 0.85112 0.752111 0.9935098 0 1.063411e-25 FALSE 8.13425e-06 ENSE00001745501_014 ENSE00001745501 014 1 86340907 86341076 - 53 54 63 T A 86341011 2342 66 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGTCCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC 85875223 85875393 85875327 85875328 85875328 exon 3 0.05555556 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGTCCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 108 29 1 1 1 NA NA 0.9601478 0.9302964 NA NA 0.03985216 0.06970361 NA 0.9452221 NA 0.05477789 NA FALSE NA 1 0.496 . splice_region_variant&synonymous_variant LOW COL24A1 HGNC 20821 ENST00000436319 34/58 rs552846069 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GTC T,A 8.277e-06 1:85875328 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 splice_region_variant 1.436935 0.90725 0.6192 0.752111 0.824665 0 1.063411e-25 FALSE 4.06881e-06 ENSE00001745501_016 ENSE00001745501 016 1 86340907 86341076 - 53 54 63 G A 86341020 2344 57 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTTTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC 85875223 85875393 85875336 85875337 85875337 upstr_intron -7 -0.0952381 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTTTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 197 117 0.995962 0.9986459 0.9973039 NA NA 0.9601478 0.9302964 NA NA 0.03581416 0.06834947 NA 0.9452221 NA 0.05208181 NA FALSE NA 0.815 0.025 . splice_region_variant&intron_variant LOW COL24A1 HGNC 20821 ENST00000436319 33/57 1 NA AGA G,A 8.277e-06 1:85875337 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 splice_region_variant 1.084833 0.95868 0.59327 0.06567 0.6330144 0.366073 1.063411e-25 FALSE 4.07057e-06 ENSE00001745501_018 ENSE00001745501 018 1 86340907 86341076 - 53 54 63 A T 86341027 2346 50 GGGGGTTCAATGGTGAAAGTTTAGAGATTCTCCTTTATTTTTTAGAAGGTTACCTTTGCACCTGGTTCACCTTGCAGACCAGACTCTCCCTCAGTGCCTGGAGGTCCCTACAAGAGAATATTTTAACACATTACAAAGGCAATAGCAATCTCATGAGAAGATGGTGGTAA 85875223 85875393 85875343 85875344 85875344 upstr_intron -14 -0.2063492 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAAATATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 695 277 0.9990487 0.8 0.8995244 NA NA 0.9601478 0.9302964 NA NA 0.03890088 -0.1302964 NA 0.9452221 NA -0.04569776 NA FALSE NA 0.143 0.629 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 33/57 rs375855886 1 NA T:0.0003 T:0 AAT A,T 8.278e-06 1:85875344 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 intron_variant 0.305353 0.62937 0.14651 0.06567 0.614726 0.225218 1.063411e-25 FALSE 8.14624e-06 ENSE00001745501_019 ENSE00001745501 019 1 86340907 86341076 - 53 54 63 A G 86341032 2347 45 GGGGGTTCAATGGTGAAAGTTTAGAGATTCTCCTTTATTTTTTAGAAGGTTACCTTTGCACCTGGTTCACCTTGCAGACCAGACTCTCCCTCAGTGCCTGGAGGTCCCTACAAGAGAATAATTTAGCACATTACAAAGGCAATAGCAATCTCATGAGAAGATGGTGGTAA 85875223 85875393 85875348 85875349 85875349 upstr_intron -19 -0.2857143 TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGCTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC mutant NA NA NA NA NA 612 40 0.998443 1 0.9992215 NA NA 0.9601478 0.9302964 NA NA 0.0382952 0.06970361 NA 0.9452221 NA 0.05399941 NA FALSE NA 0.531 1.645 . intron_variant MODIFIER COL24A1 HGNC 20821 ENST00000436319 33/57 1 NA AAC A,G 1.655e-05 1:85875349 COL24A1 HGNC Symbol protein_coding 427710 ENSG00000171502 ENSE00003552621 intron_variant 0.086033 0.2419 0.3513 0.06567 0.6453416 0.148682 1.063411e-25 FALSE 8.14996e-06 ENSE00001745501_BRK ENSE00001745501 BRK 1 86340907 86341076 - 53 54 63 A,G; T,T NA NA NA TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTTTGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGCCAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC 85875223 85875393 NA NA NA NA NA NA TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTTTGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGCCAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC TTACCACCATCTTCTCATGAGATTGCTATTGCCTTTGTAATGTGTTAAATTATTCTCTTGTAGGGACCTCCAGGCACTGAGGGAGAGTCTGGTCTGCAAGGTGAACCAGGTGCAAAGGTAACCTTCTAAAAAATAAAGGAGAATCTCTAAACTTTCACCATTGAACCCCC control NA NA NA NA NA 448 3001 0.069059 0 0.0345295 NA NA 0.9601478 0.9302964 NA NA -0.8910888 -0.9302964 NA 0.9452221 NA -0.9106926 NA TRUE NA NA NA NA NA NA COL24A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL24A1 NA NA NA ENSG00000171502 ENSE00003552621 NA NA NA NA NA NA NA 1.063411e-25 FALSE NA ENSE00001745859_000 ENSE00001745859 000 16 2100354 2100523 + 47 87 36 NA NA NA NA NA GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 NA NA NA NA NA NA CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC natural 92 98 0.9928366 0.9975572 0.9951969 2230 2318 0.9574782 0.9942385 0.9758583 0.9928366 0.9975572 0.9574782 0.9942385 0 0 0 0 0.9951969 0.9758583 0 0 0 FALSE FALSE NA NA NA NA NA TSC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSC2 NA NA NA ENSG00000103197 ENSE00003615020 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001745859_001 ENSE00001745859 001 16 2100354 2100523 + 47 87 36 T C 2100369 106 16 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCGGTGCTCAGGCCACGG 2050352 2050522 2050367 2050368 2050368 upstr_intron -32 -0.6595745 CCGTGGCCTGAGCACCGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 130 445 1 1 1 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.04252183 0.00576148 0.9951969 0.9758583 NA 0.02414165 NA FALSE NA 0 -0.319 . intron_variant MODIFIER TSC2 HGNC 12363 ENST00000439673 2/38 1 NA CTG T,C 8.238e-06 16:2050368 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 intron_variant -0.055845 0.11702 0.03957 0.21705 0.3891935 0.123625 1 TRUE 4.07163e-06 ENSE00001745859_002 ENSE00001745859 002 16 2100354 2100523 + 47 87 36 C G 2100373 107 20 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGCGCCAGTGCTCAGGCCACGG 2050352 2050522 2050371 2050372 2050372 upstr_intron -28 -0.5744681 CCGTGGCCTGAGCACTGGCGCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 152 239 0.9970682 1 0.9985341 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.03959007 0.00576148 0.9951969 0.9758583 NA 0.02267578 NA FALSE NA 0 -1.293 NA NA NA TSC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:2050372 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 intron_variant 0.123009 0.18057 0.02 0.21705 0.5090721 0.123625 1 TRUE 2.03434e-05 ENSE00001745859_004 ENSE00001745859 004 16 2100354 2100523 + 47 87 36 T G 2100386 109 33 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGACAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050384 2050385 2050385 upstr_intron -15 -0.2978723 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTGTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 1019 530 0.9970554 0.9997015 0.9983784 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.03957723 0.005462963 0.9951969 0.9758583 NA 0.0225201 NA FALSE NA 0 -0.293 . intron_variant MODIFIER TSC2 HGNC 12363 ENST00000439673 2/38 rs563094714 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TTT T,G 2.471e-05 16:2050385 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 intron_variant 0.206475 0.18192 0.04339 0.21705 0.2634301 0.12496 1 TRUE 1.62623e-05 ENSE00001745859_005 ENSE00001745859 005 16 2100354 2100523 + 47 87 36 C T 2100395 110 42 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAAAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050393 2050394 2050394 upstr_intron -6 -0.106383 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTTTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 711 359 0.9967511 1 0.9983756 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.03927294 0.00576148 0.9951969 0.9758583 NA 0.02251721 NA FALSE NA 0.003 -0.333 . splice_region_variant&intron_variant LOW TSC2 HGNC 12363 ENST00000439673 2/38 1 NA TCT C,T 5.766e-05 16:2050394 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 splice_region_variant 0.084539 0.2497 0.03746 0 0.6897807 0.230455 1 TRUE 2.84507e-05 ENSE00001745859_006 ENSE00001745859 006 16 2100354 2100523 + 47 87 36 A G 2100410 111 57 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCACGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050408 2050409 2050409 exon 10 0.1149425 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCGTGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant 12 18 1 0.9879146 0.9939573 110 467 1 0.8619635 0.9309817 0.9928366 0.9975572 0.9574782 0.9942385 0.007163448 -0.00964256 0.04252183 -0.1322751 0.9951969 0.9758583 -0.001239556 -0.04487661 0.04363706 FALSE FALSE 0.108 0.662 rs140618379 missense_variant MODERATE TSC2 HGNC 12363 ENST00000439673 3/39 rs140618379 1 tolerated(0.74) benign(0) NA G:0.0007 G:0 CAT A,G 4.942e-05 16:2050409 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 start_lost -0.894619 0.67737 0.02073 0.732398 0.4708493 0 1 TRUE 3.25066e-05 ENSE00001745859_007 ENSE00001745859 007 16 2100354 2100523 + 47 87 36 A C 2100414 112 61 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATGCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050412 2050413 2050413 exon 14 0.1609195 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGCATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 34 43 0.9814621 1 0.9907311 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.02398396 0.00576148 0.9951969 0.9758583 NA 0.01487272 NA FALSE NA 1 8.343 . missense_variant MODERATE TSC2 HGNC 12363 ENST00000439673 3/39 1 deleterious(0) probably_damaging(0.98) NA GAA A,C 2.471e-05 16:2050413 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 missense_variant 4.834531 0.99239 0.98996 0.732398 0.9964549 0 1 TRUE 1.2189e-05 ENSE00001745859_008 ENSE00001745859 008 16 2100354 2100523 + 47 87 36 A T 2100415 113 62 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGATTGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC 2050352 2050522 2050413 2050414 2050414 exon 15 0.1724138 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGATTGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 542 160 0.963648 0.9838469 0.9737474 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.006169843 -0.01039167 0.9951969 0.9758583 NA -0.002110913 NA FALSE NA 0.99 0.17 . missense_variant MODERATE TSC2 HGNC 12363 ENST00000439673 3/39 1 tolerated(0.3) possibly_damaging(0.54) NA AAT A,T 8.236e-06 16:2050414 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 missense_variant 0.429406 0.96385 0.72165 0.732398 0.6743292 0 1 TRUE 4.06293e-06 ENSE00001745859_009 ENSE00001745859 009 16 2100354 2100523 + 47 87 36 A G 2100429 114 76 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGACTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050427 2050428 2050428 exon 29 0.3333333 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAGTCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 756 131 0.9997275 0.9979401 0.9988338 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.04224933 0.003701627 0.9951969 0.9758583 NA 0.02297548 NA FALSE NA 1 4.229 rs144165984 missense_variant MODERATE TSC2 HGNC 12363 ENST00000439673 3/39 rs144165984&HM070112 1 tolerated(0.08) possibly_damaging(0.888) NA G:0.0005 G:0 AAT A,G 7.413e-05 16:2050428 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 missense_variant 2.373233 0.97378 0.92211 0.732398 0.9713213 0 1 TRUE 6.09404e-05 ENSE00001745859_010 ENSE00001745859 010 16 2100354 2100523 + 47 87 36 G A 2100432 115 79 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGTGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050430 2050431 2050431 exon 32 0.3678161 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCACATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 351 702 0.9857584 0.9983569 0.9920576 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.0282802 0.004118355 0.9951969 0.9758583 NA 0.01619928 NA FALSE NA 1 8.808 . missense_variant MODERATE TSC2 HGNC 12363 ENST00000439673 3/39 rs397514949&COSM168829&COSM168830&CM114728 1 deleterious(0) probably_damaging(1) NA CGC G,A 8.237e-06 16:2050431 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 missense_variant 6.961667 0.99374 0.9893 0.732398 0.9993794 0 1 TRUE 8.12566e-06 ENSE00001745859_011 ENSE00001745859 011 16 2100354 2100523 + 47 87 36 G A 2100448 116 95 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGTCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050446 2050447 2050447 exon -40 0.5517241 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGACAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 171 86 1 1 1 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.04252183 0.00576148 0.9951969 0.9758583 NA 0.02414165 NA FALSE NA 0.991 0.142 . synonymous_variant LOW TSC2 HGNC 12363 ENST00000439673 3/39 rs200912369 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGC G,A 1.647e-05 16:2050447 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 synonymous_variant 1.277425 0.9645 0.68616 0.732398 0.8308141 0 1 TRUE 1.21881e-05 ENSE00001745859_012 ENSE00001745859 012 16 2100354 2100523 + 47 87 36 T C 2100457 117 104 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCGCAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050455 2050456 2050456 exon -31 0.6551724 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGCGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 121 485 1 0.9972867 0.9986433 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.04252183 0.003048156 0.9951969 0.9758583 NA 0.02278499 NA FALSE NA 0.998 0.274 . synonymous_variant LOW TSC2 HGNC 12363 ENST00000439673 3/39 1 NA GTG T,C 8.237e-06 16:2050456 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 synonymous_variant 0.350844 0.96463 0.75829 0.732398 0.7335562 0 1 TRUE 4.06279e-06 ENSE00001745859_014 ENSE00001745859 014 16 2100354 2100523 + 47 87 36 C T 2100463 119 110 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCAACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050461 2050462 2050462 exon -25 0.7241379 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTTGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 986 632 0.9979286 1 0.9989643 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.04045041 0.00576148 0.9951969 0.9758583 NA 0.02310595 NA FALSE NA 0.141 -0.468 rs45460096 synonymous_variant LOW TSC2 HGNC 12363 ENST00000439673 3/39 rs45460096&COSM3507248&COSM3507249 1 NA TCG C,T 1.647e-05 16:2050462 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 synonymous_variant 2.258337 0.14353 0.0264 0.732398 0.8735014 0 1 TRUE 2.84407e-05 ENSE00001745859_015 ENSE00001745859 015 16 2100354 2100523 + 47 87 36 G A 2100464 120 111 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGTGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050462 2050463 2050463 exon -24 0.7356322 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCACAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 1320 672 0.9992807 0.9981669 0.9987238 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.04180255 0.003928409 0.9951969 0.9758583 NA 0.02286548 NA FALSE NA 1 8.808 . missense_variant MODERATE TSC2 HGNC 12363 ENST00000439673 3/39 1 deleterious(0.02) possibly_damaging(0.819) NA CGC G,A 8.237e-06 16:2050463 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 missense_variant 5.812763 0.99366 0.9892 0.732398 0.9992624 0 1 TRUE 4.06352e-06 ENSE00001745859_017 ENSE00001745859 017 16 2100354 2100523 + 47 87 36 G A 2100485 122 132 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACCTACCTTTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050483 2050484 2050484 exon -3 0.9770115 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAAAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant 22 27 0.999615 1 0.9998075 160 312 0.9984464 1 0.9992232 0.9928366 0.9975572 0.9574782 0.9942385 0.006778467 0.002442795 0.04096827 0.00576148 0.9951969 0.9758583 0.004610631 0.02336488 0.01875425 FALSE FALSE 1 8.808 rs145470784 missense_variant&splice_region_variant MODERATE TSC2 HGNC 12363 ENST00000439673 3/39 rs145470784&CM091921 1 deleterious(0) benign(0.279) NA A:0 A:0.0003 AGA G,A 0.0001153 16:2050484 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 missense_variant 4.880086 0.99366 0.9892 0.732398 0.9985779 0 1 TRUE 0.000113831 ENSE00001745859_018 ENSE00001745859 018 16 2100354 2100523 + 47 87 36 G A 2100491 123 138 GTGCCTCTCTCTAGTAGCTCAACTGGATAAACTTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050489 2050490 2050490 downstr_intron 4 1.114286 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAAGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 1980 3851 0.9932813 0.9865144 0.9898979 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.03580315 -0.007724092 0.9951969 0.9758583 NA 0.01403953 NA FALSE NA 0.803 0.45 . splice_region_variant&intron_variant LOW TSC2 HGNC 12363 ENST00000439673 3/38 rs201901739 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 AGG G,A 8.237e-06 16:2050490 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 splice_region_variant 0.658132 0.95002 0.20001 0.106106 0.690524 0.516175 1 TRUE 2.43988e-05 ENSE00001745859_020 ENSE00001745859 020 16 2100354 2100523 + 47 87 36 C G 2100507 125 154 GTGCCTCTCTCTAGTACCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050505 2050506 2050506 downstr_intron 20 1.571429 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGGTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 109 1079 0.9973268 0.9992559 0.9982913 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.03984858 0.005017345 0.9951969 0.9758583 NA 0.02243296 NA FALSE NA 0 -1.192 . intron_variant MODIFIER TSC2 HGNC 12363 ENST00000439673 3/38 1 NA GCT C,G 8.238e-06 16:2050506 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 intron_variant 0.053193 0.11998 0.01062 0.106106 0.218058 0.0951957 1 TRUE 4.07634e-06 ENSE00001745859_021 ENSE00001745859 021 16 2100354 2100523 + 47 87 36 A G 2100509 126 156 GTGCCTCTCTCTAGCAGCTCAACTGGATAAACCTACCTCTTCAAATTTCTTGGTTTTTGCGACTTCACAAATCTGCCCTATCATCCGGATGCGATTGTTGAGGCCACATTCCATGCTCAGTTCCTGGAGAGAGATGAAAGAAGAAAAAGGGGCCAGTGCTCAGGCCACGG 2050352 2050522 2050507 2050508 2050508 downstr_intron 22 1.628571 CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTGCTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC mutant NA NA NA NA NA 63 735 0.9897707 0.9997848 0.9947777 0.9928366 0.9975572 0.9574782 0.9942385 NA NA 0.0322925 0.005546247 0.9951969 0.9758583 NA 0.01891937 NA FALSE NA 0 -2.363 . intron_variant MODIFIER TSC2 HGNC 12363 ENST00000439673 3/38 1 NA TAC A,G 8.238e-06 16:2050508 TSC2 HGNC Symbol protein_coding 42022 ENSG00000103197 ENSE00003615020 intron_variant 0.067608 0.10264 0.00741 0.106106 0.2257019 0.0951957 1 TRUE 8.15548e-06 ENSE00001745859_BRK ENSE00001745859 BRK 16 2100354 2100523 + 47 87 36 A,G; T,T NA NA NA CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCTTGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGCCAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC 2050352 2050522 NA NA NA NA NA NA CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCTTGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGCCAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC CCGTGGCCTGAGCACTGGCCCCTTTTTCTTCTTTCATCTCTCTCCAGGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGTAGGTTTATCCAGTTGAGCTACTAGAGAGAGGCAC control NA NA NA NA NA 776 1143 0 0.0004423326 0.0002211663 0.9928366 0.9975572 0.9574782 0.9942385 NA NA -0.9574782 -0.9937962 0.9951969 0.9758583 NA -0.9756372 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSC2 NA NA NA ENSG00000103197 ENSE00003615020 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001746050_000 ENSE00001746050 000 1 103477918 103478087 - 51 57 62 NA NA NA NA NA ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 NA NA NA NA NA NA ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT natural 59 31 0.9834589 0.9972701 0.9903645 5910 8752 0.9323134 0.9548711 0.9435922 0.9834589 0.9972701 0.9323134 0.9548711 0 0 0 0 0.9903645 0.9435922 0 0 0 FALSE FALSE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001746050 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001746050_001 ENSE00001746050 001 1 103477918 103478087 - 51 57 62 T A 103477934 2953 154 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAATTTTTCAAATTAGCAGT 103012361 103012531 103012377 103012378 103012378 downstr_intron 35 1.7 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAATTTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 175 1661 0.9580754 0.9653858 0.9617306 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.02576206 0.01051471 0.9903645 0.9435922 NA 0.01813839 NA FALSE NA 0.036 0.674 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 12/64 1 NA ATT T,A 1.648e-05 1:103012378 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.423532 0.19538 0.08225 0.053691 0.3752113 0.0455939 0.9999806 TRUE 1.65155e-05 ENSE00001746050_002 ENSE00001746050 002 1 103477918 103478087 - 51 57 62 A G 103477939 2954 149 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGCTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012382 103012383 103012383 downstr_intron 30 1.6 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGCTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 1260 240 0.5747794 0.639887 0.6073332 0.9834589 0.9972701 0.9323134 0.9548711 NA NA -0.357534 -0.3149841 0.9903645 0.9435922 NA -0.3362591 NA FALSE NA 0 0.333 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 12/64 1 NA AAC A,G 1.648e-05 1:103012383 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.203528 0.1426 0.04879 0.053691 0.6115128 0.0455939 0.9999806 TRUE NA ENSE00001746050_003 ENSE00001746050 003 1 103477918 103478087 - 51 57 62 A G 103477943 2955 145 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATACATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012386 103012387 103012387 downstr_intron 26 1.52 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATACATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 492 166 0.9985693 1 0.9992846 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.06625592 0.0451289 0.9903645 0.9435922 NA 0.05569241 NA FALSE NA 0 -0.734 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 12/64 rs544003308 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 TAT A,G 1.648e-05 1:103012387 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.205591 0.12239 0.03917 0.053691 0.7166254 0.0455939 0.9999806 TRUE 1.22862e-05 ENSE00001746050_004 ENSE00001746050 004 1 103477918 103478087 - 51 57 62 T A 103477944 2956 144 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATTTATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012387 103012388 103012388 downstr_intron 25 1.5 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATTTATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 295 346 1 1 1 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.06768663 0.0451289 0.9903645 0.9435922 NA 0.05640776 NA FALSE NA 0 -1.962 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 12/64 rs372992367 1 NA A:0 A:0.0001 ATA T,A 1.648e-05 1:103012388 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.458957 0.18459 0.07776 0.053691 0.7470709 0.0455939 0.9999806 TRUE 1.63681e-05 ENSE00001746050_005 ENSE00001746050 005 1 103477918 103478087 - 51 57 62 A G 103477945 2957 143 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAACATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012388 103012389 103012389 downstr_intron 24 1.48 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAACATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 1210 1285 0.991668 0.9989866 0.9953273 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.05935458 0.04411555 0.9903645 0.9435922 NA 0.05173507 NA FALSE NA 0 -0.199 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 12/64 1 NA TAT A,G 1.648e-05 1:103012389 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.555713 0.21411 0.01061 0.053691 0.8290865 0.129676 0.9999806 TRUE 3.27271e-05 ENSE00001746050_009 ENSE00001746050 009 1 103477918 103478087 - 51 57 62 T C 103477978 2961 110 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCGGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012421 103012422 103012422 exon -10 0.8421053 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCGGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 824 1910 0.995883 0.997855 0.996869 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.06356962 0.04298389 0.9903645 0.9435922 NA 0.05327676 NA FALSE NA 0.124 -0.83 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 12/65 COSM1248719&COSM1248720 1 NA CTG T,C 8.237e-06 1:103012422 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 synonymous_variant 0.661013 0.96334 0.17019 0.615465 0.7332538 0 0.9999806 TRUE 4.06712e-06 ENSE00001746050_010 ENSE00001746050 010 1 103477918 103478087 - 51 57 62 A G 103477987 2962 101 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACCGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012430 103012431 103012431 exon -19 0.6842105 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACCGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 83 1220 0.9976463 0.9978502 0.9977482 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.06533293 0.04297909 0.9903645 0.9435922 NA 0.05415601 NA FALSE NA 0.999 1.07 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 12/65 COSM893150&COSM893151 1 NA CAG A,G 8.237e-06 1:103012431 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 synonymous_variant 0.713393 0.97303 0.84726 0.615465 0.7093646 0 0.9999806 TRUE 4.06607e-06 ENSE00001746050_011 ENSE00001746050 011 1 103477918 103478087 - 51 57 62 G A 103478021 2963 67 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGTTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012464 103012465 103012465 exon 5 0.0877193 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGTTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 1366 895 0.813976 0.9958074 0.9048917 0.9834589 0.9972701 0.9323134 0.9548711 NA NA -0.1183374 0.0409363 0.9903645 0.9435922 NA -0.03870054 NA FALSE NA 1 9.055 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 12/65 1 unknown(0) NA AGC G,A 8.237e-06 1:103012465 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 missense_variant 7.091867 0.99572 0.99362 0.615465 0.9983235 0 0.9999806 TRUE 4.07239e-06 ENSE00001746050_012 ENSE00001746050 012 1 103477918 103478087 - 51 57 62 A G 103478040 2964 48 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATACATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012483 103012484 103012484 upstr_intron -15 -0.2258065 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATACATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 68 366 0.9993932 0.9924871 0.9959401 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.06707986 0.03761596 0.9903645 0.9435922 NA 0.05234791 NA FALSE NA 0.001 1.985 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 11/64 1 NA TAT A,G 2.471e-05 1:103012484 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant -0.003212 0.23702 0.15863 0.053691 0.7400463 0.0946271 0.9999806 TRUE 4.10229e-05 ENSE00001746050_013 ENSE00001746050 013 1 103477918 103478087 - 51 57 62 A T 103478051 2965 37 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACAGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012494 103012495 103012495 upstr_intron -26 -0.4032258 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACAGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant 32 50 0.85 0.85 0.85 822 158 0.8549421 0.8414297 0.8481859 0.9834589 0.9972701 0.9323134 0.9548711 -0.1334589 -0.1472701 -0.07737122 -0.1134414 0.9903645 0.9435922 -0.1403645 -0.09540632 0.04495816 FALSE FALSE 0.004 2.986 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 11/64 1 NA CAG A,T 8.239e-06 1:103012495 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.446645 0.38848 0.30262 0.053691 0.7164873 0.611137 0.9999806 TRUE 4.15797e-06 ENSE00001746050_014 ENSE00001746050 014 1 103477918 103478087 - 51 57 62 A C 103478054 2966 34 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATGACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012497 103012498 103012498 upstr_intron -29 -0.4516129 ATTGTACTTTAATGTGCTCTTCCAGGAGAATATGACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 380 1323 1 0.9999712 0.9999856 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.06768663 0.04510013 0.9903645 0.9435922 NA 0.05639338 NA FALSE NA 0.001 1.384 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 11/64 1 NA TAA A,C 8.239e-06 1:103012498 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.115364 0.22284 0.14862 0.053691 0.6965746 0.104365 0.9999806 TRUE 2.92757e-05 ENSE00001746050_015 ENSE00001746050 015 1 103477918 103478087 - 51 57 62 C T 103478060 2967 28 ATTGTACTTTAATGTGCTCTTCCAGGAAAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012503 103012504 103012504 upstr_intron -35 -0.5483871 ATTGTACTTTAATGTGCTCTTCCAGGAAAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 535 508 0.9898026 0.9903042 0.9900534 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.05748924 0.0354331 0.9903645 0.9435922 NA 0.04646117 NA FALSE NA 0 -2.926 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 11/64 1 NA TCT C,T 1.648e-05 1:103012504 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.146444 0.14111 0.01022 0.053691 0.4085888 0.0647611 0.9999806 TRUE 8.49185e-06 ENSE00001746050_016 ENSE00001746050 016 1 103477918 103478087 - 51 57 62 C T 103478062 2968 26 ATTGTACTTTAATGTGCTCTTCCAGAAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012505 103012506 103012506 upstr_intron -37 -0.5806452 ATTGTACTTTAATGTGCTCTTCCAGAAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 250 1452 0.9996703 0.9979828 0.9988266 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.06735694 0.04311173 0.9903645 0.9435922 NA 0.05523434 NA FALSE NA 0 -2.029 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 11/64 1 NA TCC C,T 8.24e-06 1:103012506 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.320725 0.16765 0.01454 0.053691 0.5467345 0.0647611 0.9999806 TRUE 4.28827e-06 ENSE00001746050_017 ENSE00001746050 017 1 103477918 103478087 - 51 57 62 G T 103478066 2969 22 ATTGTACTTTAATGTGCTCTTACAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012509 103012510 103012510 upstr_intron -41 -0.6451613 ATTGTACTTTAATGTGCTCTTACAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 460 557 0.9571296 0.7717468 0.8644382 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.02481619 -0.1831243 0.9903645 0.9435922 NA -0.07915405 NA FALSE NA 0.003 -0.012 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 11/64 rs562093826 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GGA G,T 2.472e-05 1:103012510 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant 0.142451 0.20899 0.11555 0.053691 0.6350406 0.0656782 0.9999806 TRUE 4.76582e-05 ENSE00001746050_018 ENSE00001746050 018 1 103477918 103478087 - 51 57 62 A C 103478075 2970 13 ATTGTACTTTAAGGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 103012518 103012519 103012519 upstr_intron -50 -0.7903226 ATTGTACTTTAAGGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT mutant NA NA NA NA NA 3907 772 0.9970463 0.9147393 0.9558928 0.9834589 0.9972701 0.9323134 0.9548711 NA NA 0.06473296 -0.04013179 0.9903645 0.9435922 NA 0.01230058 NA FALSE NA 0 -1.173 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 11/64 1 NA CAT A,C 8.242e-06 1:103012519 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001746050 intron_variant -0.367107 0.16707 0.05753 0.053691 0.4979976 0.0656782 0.9999806 TRUE 4.46931e-06 ENSE00001746050_BRK ENSE00001746050 BRK 1 103477918 103478087 - 51 57 62 A,G; T,T NA NA NA ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTTTATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGCCAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT 103012361 103012531 NA NA NA NA NA NA ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTTTATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGCCAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT ATTGTACTTTAATGTGCTCTTCCAGGAGAATATTACTGAATTTGATATATTTTGTTTTCTAGATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTGGTAGGTTACCCCAACAAAGATAATATATGTTAAAATTTTCAAATTAGCAGT control 78 26 0 0 0 1228 2082 0.01319714 0.0362599 0.02472852 0.9834589 0.9972701 0.9323134 0.9548711 -0.9834589 -0.9972701 -0.9191162 -0.9186112 0.9903645 0.9435922 -0.9903645 -0.9188637 0.07150077 TRUE TRUE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001746050 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001746140_000 ENSE00001746140 000 12 57696900 57697069 - 59 42 69 NA NA NA NA NA CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG 57303116 57303286 NA NA NA NA NA NA CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG natural 74 58 0.9850147 0.963043 0.9740289 3786 7091 0.9065594 0.9655851 0.9360723 0.9850147 0.963043 0.9065594 0.9655851 0 0 0 0 0.9740289 0.9360723 0 0 0 FALSE FALSE NA NA NA NA NA R3HDM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA R3HDM2 NA NA NA ENSG00000179912 ENSE00003647704 NA NA NA NA NA NA NA 0.9959286 TRUE NA ENSE00001746140_001 ENSE00001746140 001 12 57696900 57697069 - 59 42 69 A G 57696942 2179 128 CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCCAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG 57303116 57303286 57303158 57303159 57303159 downstr_intron 17 1.293103 CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCCAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG mutant NA NA NA NA NA 736 273 0.9963767 0.9543633 0.97537 0.9850147 0.963043 0.9065594 0.9655851 NA NA 0.08981726 -0.01122181 0.9740289 0.9360723 NA 0.03929772 NA FALSE NA 0 0.153 . intron_variant&non_coding_transcript_variant MODIFIER R3HDM2 HGNC 29167 ENST00000551465 2/4 1 NA TAG A,G 4.19e-05 12:57303159 R3HDM2 HGNC Symbol protein_coding 177243 ENSG00000179912 ENSE00003647704 intron_variant 1.757314 0.28872 0.01233 0.156188 0.8213188 0.135666 0.9959286 TRUE 1.98518e-05 ENSE00001746140_002 ENSE00001746140 002 12 57696900 57697069 - 59 42 69 A C 57696947 2180 123 CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTGCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG 57303116 57303286 57303163 57303164 57303164 downstr_intron 12 1.206897 CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTGCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG mutant NA NA NA NA NA 1212 1000 0.9997621 0.9884389 0.9941005 0.9850147 0.963043 0.9065594 0.9655851 NA NA 0.09320267 0.02285377 0.9740289 0.9360723 NA 0.05802822 NA FALSE NA 0.289 1.371 rs79813486 intron_variant&non_coding_transcript_variant MODIFIER R3HDM2 HGNC 29167 ENST00000551465 2/4 rs79813486 1 C:0.0056 C:0 C:0 NA C:0.0278 C:0 C:0 GAA A,C 0.001008 12:57303164 R3HDM2 HGNC Symbol protein_coding 177243 ENSG00000179912 ENSE00003647704 intron_variant 2.23186 0.44937 0.34693 0.156188 0.8557677 0.760949 0.9959286 TRUE 0.00180579 ENSE00001746140_003 ENSE00001746140 003 12 57696900 57697069 - 59 42 69 A T 57696948 2181 122 CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCATCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG 57303116 57303286 57303164 57303165 57303165 downstr_intron 11 1.189655 CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCATCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG mutant NA NA NA NA NA 589 2908 0.6924116 0.8335706 0.7629911 0.9850147 0.963043 0.9065594 0.9655851 NA NA -0.2141478 -0.1320145 0.9740289 0.9360723 NA -0.1730812 NA FALSE NA 0.362 2.548 . intron_variant&non_coding_transcript_variant MODIFIER R3HDM2 HGNC 29167 ENST00000551465 2/4 1 NA AAG A,T 4.197e-05 12:57303165 R3HDM2 HGNC Symbol protein_coding 177243 ENSG00000179912 ENSE00003647704 intron_variant 2.295808 0.35235 0.17706 0.156188 0.9000543 0.219319 0.9959286 TRUE 6.61454e-06 ENSE00001746140_BRK ENSE00001746140 BRK 12 57696900 57697069 - 59 42 69 A,G; T,T NA NA NA CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACTTAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGCCGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG 57303116 57303286 NA NA NA NA NA NA CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACTTAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGCCGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG CATGTATTGTTTTTAACTTACATGTCGATTTTCTTCCACCTTTAATATTTTCCAATTCCCTTCTAACAGAGGCGGACATCTAACCATGGTCATGCCAGGAAAAGAGCCAAGGTGAGAGCCCTTCCTCTAGCTTCTTTTCTAATGTTATTAGTAATACATTTCACAAGTAG control 85 154 0.1038421 0.02987366 0.06685787 436 418 0.0136534 0 0.006826698 0.9850147 0.963043 0.9065594 0.9655851 -0.8811727 -0.9331694 -0.892906 -0.9655851 0.9740289 0.9360723 -0.907171 -0.9292456 0.02207456 TRUE TRUE NA NA NA NA NA R3HDM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA R3HDM2 NA NA NA ENSG00000179912 ENSE00003647704 NA NA NA NA NA NA NA 0.9959286 TRUE NA ENSE00001746619_000 ENSE00001746619 000 12 7947006 7947175 + 47 87 36 NA NA NA NA NA ACTGAAAGGAAAGAACAGAATGAAGTTTCCTGTTACCTGCGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAAAAATGATAGAAATTGTAAAATATTCATAATACAGAGG 7794409 7794579 NA NA NA NA NA NA CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT natural NA NA NA NA NA 3169 1436 0.8143127 0.7320317 0.7731722 NA NA 0.8143127 0.7320317 NA NA 0 0 NA 0.7731722 NA 0 NA FALSE NA NA NA NA NA NA NANOG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NANOG NA NA NA ENSG00000111704 ENSE00001746619 NA NA NA NA NA NA NA 0.9116189 TRUE NA ENSE00001746619_003 ENSE00001746619 003 12 7947006 7947175 + 47 87 36 A G 7947019 537 14 CCTCTGTATTATGGATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT 7794409 7794579 7794422 7794423 7794423 upstr_intron -34 -0.7021277 CCTCTGTATTATGGATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 34 1700 1 0.9997309 0.9998655 NA NA 0.8143127 0.7320317 NA NA 0.1856873 0.2676992 NA 0.7731722 NA 0.2266932 NA FALSE NA 0 -0.068 . intron_variant MODIFIER NANOG HGNC 20857 ENST00000526286 2/3 1 NA GAA .,G 3.298e-05 12:7794423 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 intron_variant 0.105977 0.16093 0.03712 0.088506 0.5029087 0.0647012 0.9116189 TRUE 4.03197e-05 ENSE00001746619_005 ENSE00001746619 005 12 7947006 7947175 + 47 87 36 C A 7947028 539 23 ACTGAAAGGAAAGAACAGAATGAAGTTTCCTGTTACCTGCGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAAAAATGATAGAAATTTTAAAATATTCATAATACAGAGG 7794409 7794579 7794431 7794432 7794432 upstr_intron -25 -0.5106383 CCTCTGTATTATGAATATTTTAAAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 21 405 1 0.999906 0.999953 NA NA 0.8143127 0.7320317 NA NA 0.1856873 0.2678742 NA 0.7731722 NA 0.2267808 NA FALSE NA 0 -0.891 . intron_variant MODIFIER NANOG HGNC 20857 ENST00000526286 2/3 1 NA ACA .,A 2.472e-05 12:7794432 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 intron_variant -0.071365 0.12877 0.00938 0.088506 0.4989479 0.0640191 0.9116189 TRUE NA ENSE00001746619_006 ENSE00001746619 006 12 7947006 7947175 + 47 87 36 A G 7947030 540 25 CCTCTGTATTATGAATATTTTACAGTTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT 7794409 7794579 7794433 7794434 7794434 upstr_intron -23 -0.4680851 CCTCTGTATTATGAATATTTTACAGTTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 1090 324 0.9998867 1 0.9999433 NA NA 0.8143127 0.7320317 NA NA 0.185574 0.2679683 NA 0.7731722 NA 0.2267711 NA FALSE NA 0 0.322 . intron_variant MODIFIER NANOG HGNC 20857 ENST00000526286 2/3 1 NA AAT .,G 1.648e-05 12:7794434 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 intron_variant 0.017365 0.13422 0.02455 0.088506 0.7660211 0.0640191 0.9116189 TRUE 1.27852e-05 ENSE00001746619_007 ENSE00001746619 007 12 7947006 7947175 + 47 87 36 T C 7947031 541 26 ACTGAAAGGAAAGAACAGAATGAAGTTTCCTGTTACCTGCGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAAAAATGATAGAAGTTGTAAAATATTCATAATACAGAGG 7794409 7794579 7794434 7794435 7794435 upstr_intron -22 -0.4468085 CCTCTGTATTATGAATATTTTACAACTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 1884 28 0.9999782 0.9986291 0.9993036 NA NA 0.8143127 0.7320317 NA NA 0.1856654 0.2665974 NA 0.7731722 NA 0.2261314 NA FALSE NA 0.001 -0.159 . intron_variant MODIFIER NANOG HGNC 20857 ENST00000526286 2/3 1 NA ATT .,C 1.648e-05 12:7794435 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 intron_variant 0.084823 0.13169 0.02614 0.088506 0.7468607 0.0489009 0.9116189 TRUE 8.49358e-06 ENSE00001746619_009 ENSE00001746619 009 12 7947006 7947175 + 47 87 36 T C 7947035 543 30 ACTGAAAGGAAAGAACAGAATGAAGTTTCCTGTTACCTGCGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAAAAATGATGGAAATTGTAAAATATTCATAATACAGAGG 7794409 7794579 7794438 7794439 7794439 upstr_intron -18 -0.3617021 CCTCTGTATTATGAATATTTTACAATTTCCATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 79 20 0.9838437 1 0.9919219 NA NA 0.8143127 0.7320317 NA NA 0.169531 0.2679683 NA 0.7731722 NA 0.2187496 NA FALSE NA 0 0.452 . intron_variant MODIFIER NANOG HGNC 20857 ENST00000526286 2/3 rs371869488 1 NA C:0.0002 C:0 CTA .,C 8.238e-06 12:7794439 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 intron_variant -0.225002 0.15007 0.02226 0.088506 0.7485783 0.0494733 0.9116189 TRUE NA ENSE00001746619_010 ENSE00001746619 010 12 7947006 7947175 + 47 87 36 A G 7947036 544 31 CCTCTGTATTATGAATATTTTACAATTTCTGTCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT 7794409 7794579 7794439 7794440 7794440 upstr_intron -17 -0.3404255 CCTCTGTATTATGAATATTTTACAATTTCTGTCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 402 76 1 0.9834137 0.9917069 NA NA 0.8143127 0.7320317 NA NA 0.1856873 0.251382 NA 0.7731722 NA 0.2185346 NA FALSE NA 0 -0.263 . intron_variant MODIFIER NANOG HGNC 20857 ENST00000526286 2/3 1 NA TAT .,G 8.238e-06 12:7794440 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 intron_variant -0.100081 0.08308 0.00053 0.088506 0.7768088 0.0494733 0.9116189 TRUE 4.18855e-06 ENSE00001746619_012 ENSE00001746619 012 12 7947006 7947175 + 47 87 36 T C 7947043 546 38 ACTGAAAGGAAAGAACAGAATGAAGTTTCCTGTTACCTGCGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAGAAATGATAGAAATTGTAAAATATTCATAATACAGAGG 7794409 7794579 7794446 7794447 7794447 upstr_intron -10 -0.1914894 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTCTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 250 50 0.9983421 1 0.9991711 NA NA 0.8143127 0.7320317 NA NA 0.1840294 0.2679683 NA 0.7731722 NA 0.2259988 NA FALSE NA 0 0.197 . intron_variant MODIFIER NANOG HGNC 20857 ENST00000526286 2/3 1 NA TTT .,C 8.237e-06 12:7794447 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 intron_variant -0.429362 0.10994 0.01941 0.088506 0.5457783 0.0647012 0.9116189 TRUE 8.28404e-06 ENSE00001746619_013 ENSE00001746619 013 12 7947006 7947175 + 47 87 36 G A 7947049 547 44 ACTGAAAGGAAAGAACAGAATGAAGTTTCCTGTTACCTGCGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGTAGGAAAAAATGATAGAAATTGTAAAATATTCATAATACAGAGG 7794409 7794579 7794452 7794453 7794453 upstr_intron -4 -0.06382979 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTACAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 980 274 0.9991812 0.9940943 0.9966377 NA NA 0.8143127 0.7320317 NA NA 0.1848685 0.2620626 NA 0.7731722 NA 0.2234655 NA FALSE NA 0 -2 . splice_region_variant&intron_variant LOW NANOG HGNC 20857 ENST00000526286 2/3 rs376519816 1 NA A:0 A:0.0001 TGC .,A 8.237e-06 12:7794453 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 splice_region_variant 0.134902 0.19791 0.01028 0.088506 0.7095698 0.177114 0.9116189 TRUE NA ENSE00001746619_015 ENSE00001746619 015 12 7947006 7947175 + 47 87 36 C T 7947073 549 68 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAATCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT 7794409 7794579 7794476 7794477 7794477 exon 21 0.2413793 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAATCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 73 44 1 1 1 NA NA 0.8143127 0.7320317 NA NA 0.1856873 0.2679683 NA 0.7731722 NA 0.2268278 NA FALSE NA 0.99 0.137 . synonymous_variant LOW NANOG HGNC 20857 ENST00000526286 3/4 1 NA ACC .,T 8.237e-06 12:7794477 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 synonymous_variant 1.463686 0.97072 0.64729 0.475973 0.8759492 0 0.9116189 TRUE NA ENSE00001746619_016 ENSE00001746619 016 12 7947006 7947175 + 47 87 36 A C 7947077 550 72 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGCGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT 7794409 7794579 7794480 7794481 7794481 exon 25 0.2873563 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGCGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 124 324 0.9888717 1 0.9944358 NA NA 0.8143127 0.7320317 NA NA 0.174559 0.2679683 NA 0.7731722 NA 0.2212636 NA FALSE NA 1 0.46 . synonymous_variant LOW NANOG HGNC 20857 ENST00000526286 3/4 1 NA GAG .,C 8.237e-06 12:7794481 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 synonymous_variant -0.286612 0.9533 0.51295 0.475973 0.8784688 0 0.9116189 TRUE 4.08383e-06 ENSE00001746619_019 ENSE00001746619 019 12 7947006 7947175 + 47 87 36 T C 7947121 553 116 ACTGAAAGGAAAGAACAGAATGAAGTTTCCTGTTACCTGCGTCACACCATTGCTGTTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAAAAATGATAGAAATTGTAAAATATTCATAATACAGAGG 7794409 7794579 7794524 7794525 7794525 exon -19 0.7931034 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAACAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant 14 12 0.85 0.85 0.85 156 53 0.8010324 1 0.9005162 NA NA 0.8143127 0.7320317 NA NA -0.01328029 0.2679683 NA 0.7731722 NA 0.127344 NA FALSE NA 0 -1.692 NA NA NA NANOG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:7794525 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 synonymous_variant -1.049101 0.08764 0.00938 0.6512 0.2833974 0 0.9116189 TRUE 4.08093e-06 ENSE00001746619_022 ENSE00001746619 022 12 7947006 7947175 + 47 87 36 G A 7947136 556 131 ACTGAAAGGAAAGAACAGAATGAAGTTTCCTGTTACCTGTGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAAAAATGATAGAAATTGTAAAATATTCATAATACAGAGG 7794409 7794579 7794539 7794540 7794540 exon -4 0.9655172 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACACAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 168 28 1 1 1 NA NA 0.8143127 0.7320317 NA NA 0.1856873 0.2679683 NA 0.7731722 NA 0.2268278 NA FALSE NA 0.001 -0.442 . synonymous_variant LOW NANOG HGNC 20857 ENST00000526286 3/4 1 NA CGC .,A 1.647e-05 12:7794540 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 synonymous_variant 0.693473 0.47586 0.01711 0.475973 0.8196489 0 0.9116189 TRUE 1.63688e-05 ENSE00001746619_024 ENSE00001746619 024 12 7947006 7947175 + 47 87 36 G A 7947147 558 142 ACTGAAAGGAAAGAACAGAATGAAGTTTTCTGTTACCTGCGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAAAAATGATAGAAATTGTAAAATATTCATAATACAGAGG 7794409 7794579 7794550 7794551 7794551 downstr_intron 8 1.228571 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGAAAACTTCATTCTGTTCTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 88 1138 0.9866486 0.9485279 0.9675883 NA NA 0.8143127 0.7320317 NA NA 0.1723359 0.2164962 NA 0.7731722 NA 0.1944161 NA FALSE NA 0.037 0.805 . splice_region_variant&intron_variant LOW NANOG HGNC 20857 ENST00000526286 3/3 rs373975028 1 A:0.0038 A:0 NA A:0 A:0 A:0 A:0.003 A:0 GGA .,A 0.0003954 12:7794551 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 splice_region_variant 0.082391 0.14913 0.04318 0.088506 0.8324116 0.0629744 0.9116189 TRUE 0.000275439 ENSE00001746619_025 ENSE00001746619 025 12 7947006 7947175 + 47 87 36 C G 7947163 559 158 ACTGAAAGGAAACAACAGAATGAAGTTTCCTGTTACCTGCGTCACACCATTGCTATTCTTCGGCCAGTTGTTTTTCTGCCACCTCTTAGATTTCATTCTCTGGTTCTGGAACCAGGTCTTCACCTGCAGGAAAAAATGATAGAAATTGTAAAATATTCATAATACAGAGG 7794409 7794579 7794566 7794567 7794567 downstr_intron 24 1.685714 CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTGTTTCCTTTCAGT CCTCTGTATTATGAATATTTTACAATTTCTATCATTTTTTCCTGCAGGTGAAGACCTGGTTCCAGAACCAGAGAATGAAATCTAAGAGGTGGCAGAAAAACAACTGGCCGAAGAATAGCAATGGTGTGACGCAGGTAACAGGAAACTTCATTCTGTTCTTTCCTTTCAGT mutant NA NA NA NA NA 79 497 1 1 1 NA NA 0.8143127 0.7320317 NA NA 0.1856873 0.2679683 NA 0.7731722 NA 0.2268278 NA FALSE NA 0.003 -0.656 . intron_variant MODIFIER NANOG HGNC 20857 ENST00000526286 3/3 rs200336436 1 NA G:0.0002 G:0.0006 TCT .,G 0.0003048 12:7794567 NANOG HGNC Symbol protein_coding 11347 ENSG00000111704 ENSE00001746619 intron_variant -0.246299 0.10936 0.0073 0.088506 0.4238563 0.0547833 0.9116189 TRUE 0.000371252 ENSE00001746804_000 ENSE00001746804 000 1 21583971 21584140 - 47 66 57 NA NA NA NA NA GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 NA NA NA NA NA NA GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC natural 448 336 0.9885534 0.9975274 0.9930404 1825 2765 0.9378742 0.8486513 0.8932627 0.9885534 0.9975274 0.9378742 0.8486513 0 0 0 0 0.9930404 0.8932627 0 0 0 FALSE FALSE NA NA NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003511904 NA NA NA NA NA NA NA 0.9997686 TRUE NA ENSE00001746804_001 ENSE00001746804 001 1 21583971 21584140 - 47 66 57 T C 21583983 637 158 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCGGCACGGTCCTTC 21257477 21257647 21257489 21257490 21257490 downstr_intron 35 1.76087 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCGGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 15 118 1 1 1 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06212584 0.1513487 0.9930404 0.8932627 NA 0.1067373 NA FALSE NA 0 -2.214 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/13 rs369560832 1 NA C:0 C:0.0001 CTG T,C 3.295e-05 1:21257490 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant -0.167643 0.09819 0.01544 0.099367 0.4846284 0.0657272 0.9997686 TRUE 3.68837e-05 ENSE00001746804_002 ENSE00001746804 002 1 21583971 21584140 - 47 66 57 G C 21583985 638 156 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCGCAGCACGGTCCTTC 21257477 21257647 21257491 21257492 21257492 downstr_intron 33 1.717391 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCGCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 18 22 1 1 1 521 324 0.9926129 0.9834087 0.9880108 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 0.002472591 0.0547387 0.1347574 0.9930404 0.8932627 0.006959614 0.09474806 0.08778845 FALSE FALSE 0 -0.546 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/13 1 NA GGG G,C 8.237e-06 1:21257492 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant -0.056299 0.14972 0.03172 0.156188 0.6989517 0.0838058 0.9997686 TRUE 8.18619e-06 ENSE00001746804_003 ENSE00001746804 003 1 21583971 21584140 - 47 66 57 G A 21583992 639 149 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCTTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257498 21257499 21257499 downstr_intron 26 1.565217 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCTTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 72 18 1 1 1 198 355 0.888631 0.9998927 0.9442618 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 0.002472591 -0.04924319 0.1512415 0.9930404 0.8932627 0.006959614 0.05099914 0.04403953 FALSE FALSE 0.054 3.366 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/13 rs568022205 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGG G,A 1.647e-05 1:21257499 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.310095 0.21417 0.16346 0.156188 0.4870461 0.0838058 0.9997686 TRUE 1.22477e-05 ENSE00001746804_004 ENSE00001746804 004 1 21583971 21584140 - 47 66 57 G A 21583996 640 145 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCTAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257502 21257503 21257503 downstr_intron 22 1.478261 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCTAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 11 21 0.9955071 0.9853972 0.9904521 918 577 0.9970043 0.9994514 0.9982279 0.9885534 0.9975274 0.9378742 0.8486513 0.006953705 -0.01213018 0.05913013 0.1508002 0.9930404 0.8932627 -0.00258824 0.1049651 0.1075534 FALSE FALSE 0 0.047 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/13 1 NA TGG G,A 8.237e-06 1:21257503 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.249439 0.23824 0.06381 0.156188 0.7387148 0.0838058 0.9997686 TRUE 4.07827e-06 ENSE00001746804_005 ENSE00001746804 005 1 21583971 21584140 - 47 66 57 G A 21583998 641 143 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTTCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257504 21257505 21257505 downstr_intron 20 1.434783 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTTCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 339 1382 1 0.8876072 0.9438036 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06212584 0.0389559 0.9930404 0.8932627 NA 0.05054087 NA FALSE NA 0.001 0.612 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/13 1 NA GGA G,A 8.237e-06 1:21257505 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.304559 0.20446 0.05302 0.156188 0.7020172 0.0838058 0.9997686 TRUE 8.15222e-06 ENSE00001746804_006 ENSE00001746804 006 1 21583971 21584140 - 47 66 57 G A 21584008 642 133 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGTCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257514 21257515 21257515 downstr_intron 10 1.217391 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGTCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 69 32 0.9909072 0.9998371 0.9953721 153 82 1 0.9961986 0.9980993 0.9885534 0.9975274 0.9378742 0.8486513 0.002353805 0.002309687 0.06212584 0.1475473 0.9930404 0.8932627 0.002331746 0.1048366 0.1025048 FALSE FALSE 0 -0.66 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/13 rs535451074 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGC G,A 1.647e-05 1:21257515 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.50775 0.24156 0.02041 0.156188 0.6898894 0.0800413 0.9997686 TRUE 8.14359e-06 ENSE00001746804_007 ENSE00001746804 007 1 21583971 21584140 - 47 66 57 A G 21584010 643 131 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCGCGCTTACCTTCTCGTTTTCAGTTTTGTTCAGGTAATAGTCTCTCGAGGGCAAGCCCAGGCCAGACTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTCGTGTTGCAATGCGTGTATCCACTGC 21257477 21257647 21257516 21257517 21257517 downstr_intron 8 1.173913 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGCGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 34 17 0.994533 0.9989244 0.9967287 99 560 0.9933045 1 0.9966522 0.9885534 0.9975274 0.9378742 0.8486513 0.00597964 0.001397031 0.05543031 0.1513487 0.9930404 0.8932627 0.003688335 0.1033895 0.09970119 FALSE FALSE 0 -0.251 rs28367984 splice_region_variant&intron_variant&non_coding_transcript_variant LOW ECE1 HGNC 3146 ENST00000526194 7/13 rs28367984 1 G:0.0150 G:0.0522 G:0.0072 NA G:0 G:0.001 G:0 G:0.0415 G:0.0005 CAC A,G 0.003904 1:21257517 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 splice_region_variant 0.015623 0.20041 0.02317 0.156188 0.571295 0.0892356 0.9997686 TRUE 0.00289424 ENSE00001746804_008 ENSE00001746804 008 1 21583971 21584140 - 47 66 57 C T 21584011 644 130 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCATGCTTACCTTCTCGTTTTCAGTTTTGTTCAGGTAATAGTCTCTCGAGGGCAAGCCCAGGCCAGACTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTCGTGTTGCAATGCGTGTATCCACTGC 21257477 21257647 21257517 21257518 21257518 downstr_intron 7 1.152174 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCATGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 25 29 0.9985502 0.9909726 0.9947614 129 468 1 0.9962644 0.9981322 0.9885534 0.9975274 0.9378742 0.8486513 0.009996853 -0.006554834 0.06212584 0.1476131 0.9930404 0.8932627 0.001721009 0.1048695 0.1031485 FALSE FALSE 0 -0.806 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:21257518 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 splice_region_variant 0.51233 0.19556 0.04126 0.156188 0.6804432 0.0892356 0.9997686 TRUE 2.4425e-05 ENSE00001746804_009 ENSE00001746804 009 1 21583971 21584140 - 47 66 57 C A 21584011 645 130 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCTTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257517 21257518 21257518 downstr_intron 7 1.152174 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCTTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 30 33 1 1 1 734 460 0.890996 0.9908635 0.9409298 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 0.002472591 -0.04687815 0.1422123 0.9930404 0.8932627 0.006959614 0.04766706 0.04070745 FALSE FALSE 0 -0.806 NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003511904 splice_region_variant 0.588079 0.19983 0.04146 0.156188 0.7085774 0.0892356 0.9997686 TRUE 8.14166e-06 ENSE00001746804_010 ENSE00001746804 010 1 21583971 21584140 - 47 66 57 C T 21584023 646 118 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCACGCTTACCTTCTTGTTTTCAGTTTTGTTCAGGTAATAGTCTCTCGAGGGCAAGCCCAGGCCAGACTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTCGTGTTGCAATGCGTGTATCCACTGC 21257477 21257647 21257529 21257530 21257530 exon -6 0.9242424 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACAAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 41 23 0.7994331 0.9793001 0.8893666 79 412 0.9994779 0.9949438 0.9972108 0.9885534 0.9975274 0.9378742 0.8486513 -0.1891202 -0.0182273 0.06160375 0.1462925 0.9930404 0.8932627 -0.1036738 0.1039481 0.2076219 FALSE FALSE 0.999 4.341 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/14 1 NA TCG C,T 8.236e-06 1:21257530 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 missense_variant 6.600573 0.9933 0.99055 0.67177 0.9993017 0 0.9997686 TRUE 1.21995e-05 ENSE00001746804_011 ENSE00001746804 011 1 21583971 21584140 - 47 66 57 G A 21584024 647 117 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAATGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257530 21257531 21257531 exon -7 0.9090909 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAATGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 18 19 0.9979545 0.8097239 0.9038392 36 278 0.7964494 0.9947611 0.8956052 0.9885534 0.9975274 0.9378742 0.8486513 0.009401104 -0.1878035 -0.1414248 0.1461098 0.9930404 0.8932627 -0.08920122 0.002342523 0.09154374 FALSE FALSE 0 -2.326 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/14 rs572731230 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGT G,A 4.118e-05 1:21257531 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 synonymous_variant 1.365328 0.94484 0.02102 0.67177 0.8483845 0 0.9997686 TRUE 4.06626e-05 ENSE00001746804_012 ENSE00001746804 012 1 21583971 21584140 - 47 66 57 T C 21584028 648 113 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGGAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257534 21257535 21257535 exon -11 0.8484848 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGGAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 32 29 0.9952895 1 0.9976447 300 99 0.9920775 1 0.9960388 0.9885534 0.9975274 0.9378742 0.8486513 0.006736113 0.002472591 0.05420336 0.1513487 0.9930404 0.8932627 0.004604352 0.102776 0.0981717 FALSE FALSE 0.973 1.398 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/14 rs201107391 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTC T,C 7.413e-05 1:21257535 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 missense_variant 3.341597 0.98603 0.94936 0.67177 0.996721 0 0.9997686 TRUE 6.5047e-05 ENSE00001746804_013 ENSE00001746804 013 1 21583971 21584140 - 47 66 57 C T 21584039 649 102 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCACGCTTACCTTCTCGTTTTCAGTTTTGTTTAGGTAATAGTCTCTCGAGGGCAAGCCCAGGCCAGACTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTCGTGTTGCAATGCGTGTATCCACTGC 21257477 21257647 21257545 21257546 21257546 exon -22 0.6818182 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTAAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 572 746 1 0.9995758 0.9997879 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06212584 0.1509245 0.9930404 0.8932627 NA 0.1065252 NA FALSE NA 1 1.977 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/14 1 NA TCA C,T 8.236e-06 1:21257546 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 synonymous_variant 1.778167 0.98407 0.95399 0.706548 0.9110538 0 0.9997686 TRUE 4.06478e-06 ENSE00001746804_015 ENSE00001746804 015 1 21583971 21584140 - 47 66 57 C A 21584054 651 87 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCTAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257560 21257561 21257561 exon 30 0.4545455 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCTAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 812 147 0.9986235 1 0.9993118 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06074935 0.1513487 0.9930404 0.8932627 NA 0.106049 NA FALSE NA 0 -3.78 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:21257561 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 synonymous_variant 2.433392 0.16537 0.03151 0.706548 0.7992888 0 0.9997686 TRUE 2.84483e-05 ENSE00001746804_016 ENSE00001746804 016 1 21583971 21584140 - 47 66 57 C T 21584054 652 87 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCACGCTTACCTTCTCGTTTTCAGTTTTGTTCAGGTAATAGTCTCTTGAGGGCAAGCCCAGGCCAGACTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTCGTGTTGCAATGCGTGTATCCACTGC 21257477 21257647 21257560 21257561 21257561 exon 30 0.4545455 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCAAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 15 12 1 0.9951093 0.9975547 355 18 1 0.88615 0.943075 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 -0.002418108 0.06212584 0.03749871 0.9930404 0.8932627 0.004514264 0.04981228 0.04529801 FALSE FALSE 0 -3.78 NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003511904 synonymous_variant 2.200166 0.14225 0.01113 0.706548 0.8408358 0 0.9997686 TRUE 1.21921e-05 ENSE00001746804_017 ENSE00001746804 017 1 21583971 21584140 - 47 66 57 G A 21584055 653 86 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTTGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257561 21257562 21257562 exon 29 0.4393939 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTTGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 22 10 1 1 1 332 207 1 1 1 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 0.002472591 0.06212584 0.1513487 0.9930404 0.8932627 0.006959614 0.1067373 0.09977768 FALSE FALSE 1 9.223 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/14 1 NA CGA G,A 1.647e-05 1:21257562 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 missense_variant 7.515361 0.99347 0.99603 0.706548 0.9994108 0 0.9997686 TRUE 1.62566e-05 ENSE00001746804_018 ENSE00001746804 018 1 21583971 21584140 - 47 66 57 G A 21584063 654 78 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGTTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257569 21257570 21257570 exon 21 0.3181818 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGTTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 71 467 1 0.9999185 0.9999592 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06212584 0.1512672 0.9930404 0.8932627 NA 0.1066965 NA FALSE NA 0.65 -0.979 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/14 1 NA AGC G,A 8.236e-06 1:21257570 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 synonymous_variant 1.854081 0.96443 0.26962 0.706548 0.8681051 0 0.9997686 TRUE 4.06425e-06 ENSE00001746804_019 ENSE00001746804 019 1 21583971 21584140 - 47 66 57 C T 21584075 655 66 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCACGCTTACCTTCTCGTTTTCAGTTTTGTTCAGGTAATAGTCTCTCGAGGGCAAGCCCAGGCCAGATTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTCGTGTTGCAATGCGTGTATCCACTGC 21257477 21257647 21257581 21257582 21257582 exon 9 0.1363636 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAATCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 116 35 1 1 1 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06212584 0.1513487 0.9930404 0.8932627 NA 0.1067373 NA FALSE NA 1 2.235 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 7/14 1 NA ACT C,T 8.236e-06 1:21257582 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 synonymous_variant 2.015456 0.98868 0.95162 0.706548 0.9261223 0 0.9997686 TRUE 4.06461e-06 ENSE00001746804_020 ENSE00001746804 020 1 21583971 21584140 - 47 66 57 G A 21584086 656 55 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCTAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257592 21257593 21257593 upstr_intron -3 -0.03508772 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCTAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 247 91 0.9998333 1 0.9999166 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06195911 0.1513487 0.9930404 0.8932627 NA 0.1066539 NA FALSE NA 0.887 0.984 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ECE1 HGNC 3146 ENST00000526194 6/13 rs370523890 1 NA A:0 A:0.0001 TGG G,A 8.236e-06 1:21257593 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 splice_region_variant 0.231388 0.69073 0.52071 0.256867 0.7279072 0.213687 0.9997686 TRUE 2.84553e-05 ENSE00001746804_021 ENSE00001746804 021 1 21583971 21584140 - 47 66 57 G C 21584099 657 42 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCGTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257605 21257606 21257606 upstr_intron -16 -0.2631579 GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCGTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 194 15 1 1 1 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06212584 0.1513487 0.9930404 0.8932627 NA 0.1067373 NA FALSE NA 0 -0.014 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 6/13 1 NA AGG G,C 2.471e-05 1:21257606 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant -0.078017 0.67311 0.26544 0.069865 0.5806137 0.0789941 0.9997686 TRUE 1.62719e-05 ENSE00001746804_022 ENSE00001746804 022 1 21583971 21584140 - 47 66 57 G A 21584108 658 33 GCAGTGGATACACGCATTGCAACACGAATTCCTTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257614 21257615 21257615 upstr_intron -25 -0.4210526 GCAGTGGATACACGCATTGCAACACGAATTCCTTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 123 33 0.4177435 0.4705887 0.4441661 589 173 0.996741 0.9975429 0.9971419 0.9885534 0.9975274 0.9378742 0.8486513 -0.5708098 -0.5269387 0.0588668 0.1488916 0.9930404 0.8932627 -0.5488743 0.1038792 0.6527535 FALSE TRUE 0 0.089 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 6/13 1 NA AGG G,A 1.647e-05 1:21257615 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.092436 0.26907 0.07346 0.069865 0.7157935 0.0789941 0.9997686 TRUE 8.14445e-06 ENSE00001746804_023 ENSE00001746804 023 1 21583971 21584140 - 47 66 57 C T 21584115 659 26 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCACGCTTACCTTCTCGTTTTCAGTTTTGTTCAGGTAATAGTCTCTCGAGGGCAAGCCCAGGCCAGACTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTTGTGTTGCAATGCGTGTATCCACTGC 21257477 21257647 21257621 21257622 21257622 upstr_intron -32 -0.5438596 GCAGTGGATACACGCATTGCAACACAAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 78 135 0.9589475 0.93234 0.9456437 325 767 0.983567 0.9997937 0.9916804 0.9885534 0.9975274 0.9378742 0.8486513 -0.02960588 -0.06518742 0.04569289 0.1511425 0.9930404 0.8932627 -0.04739665 0.09841769 0.1458143 FALSE FALSE 0 -0.845 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 6/13 rs372983723 1 NA TCG C,T 2.471e-05 1:21257622 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.149603 0.17994 0.02585 0.069865 0.4249335 0.0789941 0.9997686 TRUE 2.44704e-05 ENSE00001746804_024 ENSE00001746804 024 1 21583971 21584140 - 47 66 57 G A 21584116 660 25 GCAGTGGATACACGCATTGCAACATGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257622 21257623 21257623 upstr_intron -33 -0.5614035 GCAGTGGATACACGCATTGCAACATGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 53 67 0.9993303 0.9992196 0.999275 254 1262 1 0.9991207 0.9995603 0.9885534 0.9975274 0.9378742 0.8486513 0.01077698 0.001692194 0.06212584 0.1504694 0.9930404 0.8932627 0.006234588 0.1062976 0.100063 FALSE FALSE 0 -1.226 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 6/13 1 NA CGT G,A 8.237e-05 1:21257623 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.107628 0.23664 0.00995 0.069865 0.3474115 0.0789941 0.9997686 TRUE 7.34418e-05 ENSE00001746804_025 ENSE00001746804 025 1 21583971 21584140 - 47 66 57 T C 21584119 661 22 GCAGTGGATACACGCATTGCAGCACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257625 21257626 21257626 upstr_intron -36 -0.6140351 GCAGTGGATACACGCATTGCAGCACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 10 21 1 1 1 889 17 0.9919738 1 0.9959869 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 0.002472591 0.05409969 0.1513487 0.9930404 0.8932627 0.006959614 0.1027242 0.0957646 FALSE FALSE 0 -0.005 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 6/13 rs373302545 1 NA C:0 C:0.0001 GTT T,C 0.0001071 1:21257626 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant -0.49067 0.09625 0.00308 0.062308 0.26989 0.0797711 0.9997686 TRUE 9.39136e-05 ENSE00001746804_026 ENSE00001746804 026 1 21583971 21584140 - 47 66 57 C T 21584122 662 19 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCACGCTTACCTTCTCGTTTTCAGTTTTGTTCAGGTAATAGTCTCTCGAGGGCAAGCCCAGGCCAGACTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTCGTGTTGTAATGCGTGTATCCACTGC 21257477 21257647 21257628 21257629 21257629 upstr_intron -39 -0.6666667 GCAGTGGATACACGCATTACAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 149 331 1 1 1 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.06212584 0.1513487 0.9930404 0.8932627 NA 0.1067373 NA FALSE NA 0 -0.551 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 6/13 1 NA GCA C,T 8.237e-06 1:21257629 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.276152 0.15024 0.009 0.062308 0.4167621 0.0797711 0.9997686 TRUE 4.08981e-06 ENSE00001746804_027 ENSE00001746804 027 1 21583971 21584140 - 47 66 57 T C 21584125 663 16 GCAGTGGATACACGCGTTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257631 21257632 21257632 upstr_intron -42 -0.7192982 GCAGTGGATACACGCGTTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 53 48 0.9985727 0.9954888 0.9970308 459 1885 1 0.9927225 0.9963612 0.9885534 0.9975274 0.9378742 0.8486513 0.01001939 -0.002038619 0.06212584 0.1440712 0.9930404 0.8932627 0.003990383 0.1030985 0.09910814 FALSE FALSE 0 -1.991 . intron_variant&non_coding_transcript_variant MODIFIER ECE1 HGNC 3146 ENST00000526194 6/13 1 NA ATG T,C 4.942e-05 1:21257632 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant -0.262394 0.11727 0.001 0.062308 0.3748683 0.0797711 0.9997686 TRUE 2.0469e-05 ENSE00001746804_028 ENSE00001746804 028 1 21583971 21584140 - 47 66 57 C T 21584127 664 14 GAAGGACCGTGCTGGGAGGCAGGCTGGGAGGGGAGAGGCACGCTTACCTTCTCGTTTTCAGTTTTGTTCAGGTAATAGTCTCTCGAGGGCAAGCCCAGGCCAGACTGGTCCACCTGGCAAGAGAAGCAGGCATGAGAGGGAATTCGTGTTGCAATGTGTGTATCCACTGC 21257477 21257647 21257633 21257634 21257634 upstr_intron -44 -0.754386 GCAGTGGATACACACATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 15 29 1 1 1 NA NA NA NA NA 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 0.002472591 NA NA 0.9930404 0.8932627 0.006959614 NA NA NA FALSE 0 -1.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:21257634 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.223109 0.12408 0.02557 0.062308 0.4359886 0.0797711 0.9997686 TRUE 8.20829e-06 ENSE00001746804_029 ENSE00001746804 029 1 21583971 21584140 - 47 66 57 C G 21584127 665 14 GCAGTGGATACACCCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257633 21257634 21257634 upstr_intron -44 -0.754386 GCAGTGGATACACCCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant NA NA NA NA NA 1472 311 0.9650909 1 0.9825455 0.9885534 0.9975274 0.9378742 0.8486513 NA NA 0.02721678 0.1513487 0.9930404 0.8932627 NA 0.08928276 NA FALSE NA 0 -1.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003511904 intron_variant -0.008724 0.12278 0.02907 0.062308 0.3720484 0.0797711 0.9997686 TRUE 4.10415e-06 ENSE00001746804_030 ENSE00001746804 030 1 21583971 21584140 - 47 66 57 G A 21584128 666 13 GCAGTGGATACATGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257634 21257635 21257635 upstr_intron -45 -0.7719298 GCAGTGGATACATGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 10 16 1 1 1 NA NA NA NA NA 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 0.002472591 NA NA 0.9930404 0.8932627 0.006959614 NA NA NA FALSE 0 -0.364 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:21257635 ECE1 HGNC Symbol protein_coding 128257 ENSG00000117298 ENSE00003511904 intron_variant 0.044862 0.12511 0.00637 0.099367 0.3830647 0.0797711 0.9997686 TRUE 0.013844 ENSE00001746804_031 ENSE00001746804 031 1 21583971 21584140 - 47 66 57 G C 21584128 667 13 GCAGTGGATACAGGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 21257634 21257635 21257635 upstr_intron -45 -0.7719298 GCAGTGGATACAGGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC mutant 15 19 1 0.9997197 0.9998598 58 344 1 1 1 0.9885534 0.9975274 0.9378742 0.8486513 0.01144664 0.002192253 0.06212584 0.1513487 0.9930404 0.8932627 0.006819445 0.1067373 0.09991785 FALSE FALSE 0 -0.364 NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003511904 intron_variant -0.219988 0.14562 0.03258 0.099367 0.3911796 0.0797711 0.9997686 TRUE 2.05278e-05 ENSE00001746804_BRK ENSE00001746804 BRK 1 21583971 21584140 - 47 66 57 A,G; T,T NA NA NA GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCTTGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGCCAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC 21257477 21257647 NA NA NA NA NA NA GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCTTGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGCCAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC GCAGTGGATACACGCATTGCAACACGAATTCCCTCTCATGCCTGCTTCTCTTGCCAGGTGGACCAGTCTGGCCTGGGCTTGCCCTCGAGAGACTATTACCTGAACAAAACTGAAAACGAGAAGGTAAGCGTGCCTCTCCCCTCCCAGCCTGCCTCCCAGCACGGTCCTTC control 210 142 0.120734 0 0.06036698 NA NA NA NA NA 0.9885534 0.9975274 0.9378742 0.8486513 -0.8678194 -0.9975274 NA NA 0.9930404 0.8932627 -0.9326734 NA NA NA TRUE NA NA NA NA NA ECE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE1 NA NA NA ENSG00000117298 ENSE00003511904 NA NA NA NA NA NA NA 0.9997686 TRUE NA ENSE00001747005_000 ENSE00001747005 000 20 35860657 35860826 + 42 96 32 NA NA NA NA NA GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 NA NA NA NA NA NA GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC natural 99 101 0.9988064 0.9898137 0.9943101 977 977 0.994072 0.9882415 0.9911568 0.9988064 0.9898137 0.994072 0.9882415 0 0 0 0 0.9943101 0.9911568 0 0 0 FALSE FALSE NA NA NA NA NA RPN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPN2 NA NA NA ENSG00000118705 ENSE00001747005 NA NA NA NA NA NA NA 0.03167734 FALSE NA ENSE00001747005_002 ENSE00001747005 002 20 35860657 35860826 + 42 96 32 A C 35860673 1062 17 GAAGGGCACATTCTTACGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232269 37232270 37232270 upstr_intron -26 -0.5952381 GAAGGGCACATTCTTACGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 20 68 1 0.9652281 0.9826141 0.9988064 0.9898137 0.994072 0.9882415 NA NA 0.005927987 -0.0230134 0.9943101 0.9911568 NA -0.008542709 NA FALSE NA 0.063 2.789 . intron_variant MODIFIER RPN2 HGNC 10382 ENST00000237530 13/16 rs201487164 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AAG A,C 4.118e-05 20:37232270 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 intron_variant 0.168693 0.32183 0.22459 0.256867 0.5405075 0.710783 0.03167734 FALSE 5.28322e-05 ENSE00001747005_005 ENSE00001747005 005 20 35860657 35860826 + 42 96 32 C T 35860696 1065 40 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGTAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232292 37232293 37232293 upstr_intron -3 -0.04761905 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGTAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 322 55 0.8151301 0.90627 0.8607 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.1789419 -0.08197156 0.9943101 0.9911568 NA -0.1304567 NA FALSE NA 1 4.167 . splice_region_variant&intron_variant LOW RPN2 HGNC 10382 ENST00000237530 13/16 1 NA GCA C,T 8.236e-06 20:37232293 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 splice_region_variant 1.694276 0.95008 0.93205 0.256867 0.9205315 0.881617 0.03167734 FALSE 4.06279e-06 ENSE00001747005_006 ENSE00001747005 006 20 35860657 35860826 + 42 96 32 C T 35860707 1066 51 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTTCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232303 37232304 37232304 exon 9 0.09375 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTTCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 15 644 0.9578741 1 0.9789371 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.0361979 0.01175847 0.9943101 0.9911568 NA -0.01221971 NA FALSE NA 1 1.818 NA NA NA RPN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:37232304 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 synonymous_variant 2.365391 0.94879 0.88426 0.706548 0.8853437 0 0.03167734 FALSE 8.12526e-06 ENSE00001747005_010 ENSE00001747005 010 20 35860657 35860826 + 42 96 32 G A 35860711 1070 55 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCAAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232307 37232308 37232308 exon 13 0.1354167 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCAAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 121 1566 0.9831122 0.9813456 0.9822289 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.01095977 -0.006895918 0.9943101 0.9911568 NA -0.008927845 NA FALSE NA 1 9.265 rs140556886 missense_variant MODERATE RPN2 HGNC 10382 ENST00000237530 14/17 rs140556886 1 tolerated(0.2) possibly_damaging(0.766) A:0.0012 A:0.0045 A:0 NA A:0 A:0 A:0 A:0.0041 A:0.0001 CGA G,A 0.0004448 20:37232308 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 missense_variant 6.720983 0.9732 0.97855 0.706548 0.9983227 0 0.03167734 FALSE 0.000385965 ENSE00001747005_012 ENSE00001747005 012 20 35860657 35860826 + 42 96 32 C T 35860731 1072 75 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCTACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232327 37232328 37232328 exon 33 0.34375 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCTACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 41 142 1 0.9897299 0.994865 0.9988064 0.9898137 0.994072 0.9882415 NA NA 0.005927987 0.001488374 0.9943101 0.9911568 NA 0.00370818 NA FALSE NA 1 0.782 . synonymous_variant LOW RPN2 HGNC 10382 ENST00000237530 14/17 1 NA CCA C,T 8.236e-06 20:37232328 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 synonymous_variant 1.880979 0.90997 0.80498 0.706548 0.8714607 0 0.03167734 FALSE 4.06243e-06 ENSE00001747005_017 ENSE00001747005 017 20 35860657 35860826 + 42 96 32 A G 35860745 1077 89 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAGTACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232341 37232342 37232342 exon 47 0.4895833 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAGTACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 147 43 0.8655834 1 0.9327917 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.1284886 0.01175847 0.9943101 0.9911568 NA -0.05836506 NA FALSE NA 1 8.763 . missense_variant MODERATE RPN2 HGNC 10382 ENST00000237530 14/17 rs372530860 1 tolerated(0.06) possibly_damaging(0.868) NA G:0 G:0.0001 AAT A,G 2.471e-05 20:37232342 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 missense_variant 5.883906 0.9674 0.97643 0.706548 0.9988149 0 0.03167734 FALSE 2.84368e-05 ENSE00001747005_021 ENSE00001747005 021 20 35860657 35860826 + 42 96 32 C A 35860764 1081 108 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATACTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232360 37232361 37232361 exon -31 0.6875 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATACTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 1182 552 0.9802433 0.9749193 0.9775813 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.01382873 -0.01332221 0.9943101 0.9911568 NA -0.01357547 NA FALSE NA 0.999 0.603 . synonymous_variant LOW RPN2 HGNC 10382 ENST00000237530 14/17 1 NA TCC C,A 8.236e-06 20:37232361 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 synonymous_variant 2.738726 0.9454 0.88662 0.706548 0.8899907 0 0.03167734 FALSE 4.06309e-06 ENSE00001747005_023 ENSE00001747005 023 20 35860657 35860826 + 42 96 32 G A 35860770 1083 114 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCACCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232366 37232367 37232367 exon -25 0.75 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCACCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 15 394 0.6719256 0.8006415 0.7362835 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.3221464 -0.1876 0.9943101 0.9911568 NA -0.2548732 NA FALSE NA 0 -2.055 rs150024301 synonymous_variant LOW RPN2 HGNC 10382 ENST00000237530 14/17 rs150024301 1 NA A:0 A:0.001 CGC G,A 0.0001894 20:37232367 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 synonymous_variant 1.548157 0.65048 0.20925 0.706548 0.8483275 0 0.03167734 FALSE 0.000203201 ENSE00001747005_024 ENSE00001747005 024 20 35860657 35860826 + 42 96 32 C G 35860771 1084 115 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGGCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232367 37232368 37232368 exon -24 0.7604167 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGGCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 55 44 0.8737285 1 0.9368643 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.1203435 0.01175847 0.9943101 0.9911568 NA -0.05429251 NA FALSE NA 1 7.32 . missense_variant MODERATE RPN2 HGNC 10382 ENST00000237530 14/17 1 deleterious(0) probably_damaging(1) NA GCC C,G 0.000173 20:37232368 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 missense_variant 5.644449 0.97622 0.97766 0.706548 0.9966219 0 0.03167734 FALSE 0.000150361 ENSE00001747005_027 ENSE00001747005 027 20 35860657 35860826 + 42 96 32 C T 35860780 1087 124 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTTTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232376 37232377 37232377 exon -15 0.8541667 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTTTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 690 209 0.7969135 0.9499793 0.8734464 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.1971585 -0.03826218 0.9943101 0.9911568 NA -0.1177103 NA FALSE NA 0.957 1.796 rs144228662 synonymous_variant LOW RPN2 HGNC 10382 ENST00000237530 14/17 rs144228662 1 T:0.0030 T:0 T:0 NA T:0.0149 T:0 T:0 T:0.0002 T:0 TCT C,T 0.001334 20:37232377 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 synonymous_variant 1.419039 0.92086 0.81072 0.706548 0.8847917 0 0.03167734 FALSE 0.00128026 ENSE00001747005_029 ENSE00001747005 029 20 35860657 35860826 + 42 96 32 C T 35860788 1089 132 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTTGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232384 37232385 37232385 exon -7 0.9375 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTTGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 263 57 0.8 0.8 0.8 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.194072 -0.1882415 0.9943101 0.9911568 NA -0.1911568 NA FALSE NA 1 0.647 . synonymous_variant LOW RPN2 HGNC 10382 ENST00000237530 14/17 1 NA TCG C,T 0.0002389 20:37232385 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 synonymous_variant 1.869889 0.89775 0.55272 0.706548 0.864842 0 0.03167734 FALSE 0.000191038 ENSE00001747005_030 ENSE00001747005 030 20 35860657 35860826 + 42 96 32 G A 35860789 1090 133 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCACTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 37232385 37232386 37232386 exon -6 0.9479167 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCACTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 15 78 0.9896224 0.9938679 0.9917452 0.9988064 0.9898137 0.994072 0.9882415 NA NA -0.004449608 0.00562637 0.9943101 0.9911568 NA 0.0005883815 NA FALSE NA 1 5.955 . missense_variant MODERATE RPN2 HGNC 10382 ENST00000237530 14/17 1 deleterious(0.02) benign(0.327) NA CGC G,A 1.647e-05 20:37232386 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 missense_variant 5.35068 0.95082 0.84036 0.706548 0.9985242 0 0.03167734 FALSE 1.62604e-05 ENSE00001747005_032 ENSE00001747005 032 20 35860657 35860826 + 42 96 32 C T 35860813 1092 157 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGTGTGGGCAGCATGC 37232253 37232423 37232409 37232410 37232410 downstr_intron 19 1.612903 GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGTGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC mutant NA NA NA NA NA 294 616 1 0.9997432 0.9998716 0.9988064 0.9898137 0.994072 0.9882415 NA NA 0.005927987 0.01150165 0.9943101 0.9911568 NA 0.008714817 NA FALSE NA 0.965 0.664 . intron_variant MODIFIER RPN2 HGNC 10382 ENST00000237530 14/16 1 NA GCG C,T 2.471e-05 20:37232410 RPN2 HGNC Symbol protein_coding 63213 ENSG00000118705 ENSE00001747005 intron_variant 0.823196 0.90127 0.70351 0.069865 0.6941898 0.436445 0.03167734 FALSE 5.28687e-05 ENSE00001747005_BRK ENSE00001747005 BRK 20 35860657 35860826 + 42 96 32 A,G; T,T NA NA NA GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCTTCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGCCGAGTGGCTGTAATTAGCGTGGGCAGCATGC 37232253 37232423 NA NA NA NA NA NA GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCTTCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGCCGAGTGGCTGTAATTAGCGTGGGCAGCATGC GAAGGGCACATTCTTAAGTCTTCTTGGTGTGTCTTTCGGCAGCACCTGTTCCGCGAGCCTGAGAAGAGGCCCCCCACCGTGGTGTCCAATACATTCACTGCCCTGATCCTCTCGCCGTTGCTTCTGCTCTTCGCTCTGGTGAGTGGCTGTAATTAGCGTGGGCAGCATGC control 121 38 0 0 0 42 88 0 0 0 0.9988064 0.9898137 0.994072 0.9882415 -0.9988064 -0.9898137 -0.994072 -0.9882415 0.9943101 0.9911568 -0.9943101 -0.9911568 0.0031533 TRUE TRUE NA NA NA NA NA RPN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPN2 NA NA NA ENSG00000118705 ENSE00001747005 NA NA NA NA NA NA NA 0.03167734 FALSE NA ENSE00001747277_000 ENSE00001747277 000 1 103388839 103389008 - 53 54 63 NA NA NA NA NA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 NA NA NA NA NA NA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA natural NA NA NA NA NA 614 677 0.9777223 0.8266648 0.9021935 NA NA 0.9777223 0.8266648 NA NA 0 0 NA 0.9021935 NA 0 NA FALSE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001747277 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001747277_001 ENSE00001747277 001 1 103388839 103389008 - 53 54 63 A G 103388851 2798 158 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATACGCATGGCAGTCA 102923282 102923452 102923294 102923295 102923295 downstr_intron 41 1.788462 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATACGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 262 120 0.99204 0.9990429 0.9955414 NA NA 0.9777223 0.8266648 NA NA 0.01431769 0.1723781 NA 0.9021935 NA 0.0933479 NA FALSE NA 0.025 2.399 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 45/64 1 NA CAT A,G 0.0001484 1:102923295 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 intron_variant 0.007783 0.10126 0.05113 0.061011 0.4599721 0.0448725 0.9999806 TRUE 0.000230882 ENSE00001747277_002 ENSE00001747277 002 1 103388839 103389008 - 53 54 63 T C 103388852 2799 157 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATGTGCATGGCAGTCA 102923282 102923452 102923295 102923296 102923296 downstr_intron 40 1.769231 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATGTGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 278 1151 0.9931421 0.9866324 0.9898872 NA NA 0.9777223 0.8266648 NA NA 0.01541979 0.1599676 NA 0.9021935 NA 0.08769369 NA FALSE NA 0 -2.565 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 45/64 1 NA ATA T,C 8.245e-06 1:102923296 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 intron_variant -0.020021 0.12034 0.00674 0.061011 0.4768326 0.0448725 0.9999806 TRUE NA ENSE00001747277_006 ENSE00001747277 006 1 103388839 103389008 - 53 54 63 A G 103388866 2803 143 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGACGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923309 102923310 102923310 downstr_intron 26 1.5 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGACGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 49 126 1 0.9700532 0.9850266 NA NA 0.9777223 0.8266648 NA NA 0.0222777 0.1433884 NA 0.9021935 NA 0.08283306 NA FALSE NA 0.449 3.028 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 45/64 1 NA CAT A,G 8.241e-06 1:102923310 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 intron_variant 0.127858 0.16203 0.29934 0.061011 0.5440689 0.0448725 0.9999806 TRUE NA ENSE00001747277_009 ENSE00001747277 009 1 103388839 103389008 - 53 54 63 A G 103388893 2806 116 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCACGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923336 102923337 102923337 exon -2 0.9814815 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCACGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 239 351 0.9771151 0.9577497 0.9674324 NA NA 0.9777223 0.8266648 NA NA -0.0006071935 0.131085 NA 0.9021935 NA 0.06523889 NA FALSE NA 1 8.494 . missense_variant&splice_region_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 45/65 1 unknown(0) NA CAT A,G 1.648e-05 1:102923337 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 missense_variant 2.945854 0.9917 0.98912 0.638212 0.9654848 0 0.9999806 TRUE NA ENSE00001747277_012 ENSE00001747277 012 1 103388839 103389008 - 53 54 63 T C 103388931 2809 78 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCGCCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923374 102923375 102923375 exon 15 0.2777778 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCGCCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 298 564 0.9946311 0.9489732 0.9718022 NA NA 0.9777223 0.8266648 NA NA 0.01690883 0.1223085 NA 0.9021935 NA 0.06960864 NA FALSE NA 0.074 -0.674 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 45/65 1 NA GTG T,C 8.243e-06 1:102923375 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 synonymous_variant 0.720227 0.96446 0.25065 0.693126 0.7449665 0 0.9999806 TRUE 8.67145e-06 ENSE00001747277_015 ENSE00001747277 015 1 103388839 103389008 - 53 54 63 A G 103388956 2812 53 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTACATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923399 102923400 102923400 upstr_intron -11 -0.1587302 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTACATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 38 104 0.8456631 0.8 0.8228316 NA NA 0.9777223 0.8266648 NA NA -0.1320592 -0.02666477 NA 0.9021935 NA -0.07936196 NA FALSE NA 0 0.701 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 44/64 1 NA TAT A,G 1.676e-05 1:102923400 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 intron_variant 0.525045 0.26944 0.13394 0.061011 0.7898909 0.159205 0.9999806 TRUE 1.01294e-05 ENSE00001747277_018 ENSE00001747277 018 1 103388839 103389008 - 53 54 63 A G 103388964 2815 45 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTCTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923407 102923408 102923408 upstr_intron -19 -0.2857143 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTCTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 13 1346 1 0.9996473 0.9998237 NA NA 0.9777223 0.8266648 NA NA 0.0222777 0.1729826 NA 0.9021935 NA 0.09763014 NA FALSE NA 0.261 0.857 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 44/64 1 NA AAA A,G 8.49e-06 1:102923408 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 intron_variant 0.307085 0.3077 0.48125 0.061011 0.8015961 0.0946271 0.9999806 TRUE NA ENSE00001747277_019 ENSE00001747277 019 1 103388839 103389008 - 53 54 63 A G 103388974 2816 35 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTCTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923417 102923418 102923418 upstr_intron -29 -0.4444444 GACCAAACTTTTTTTTTTAAAGACATCAGTGACTCTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 217 49 0.9950193 1 0.9975096 NA NA 0.9777223 0.8266648 NA NA 0.01729699 0.1733352 NA 0.9021935 NA 0.09531611 NA FALSE NA 0 0.65 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 44/64 1 NA AAA A,G 5.18e-05 1:102923418 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 intron_variant 0.252691 0.86752 0.36568 0.061011 0.6907727 0.551982 0.9999806 TRUE 2.9086e-05 ENSE00001747277_021 ENSE00001747277 021 1 103388839 103389008 - 53 54 63 C G 103388987 2818 22 GACCAAACTTTTTTTTTTAAACACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923430 102923431 102923431 upstr_intron -42 -0.6507937 GACCAAACTTTTTTTTTTAAACACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 547 132 0.99879 1 0.999395 NA NA 0.9777223 0.8266648 NA NA 0.02106768 0.1733352 NA 0.9021935 NA 0.09720146 NA FALSE NA 0 0.207 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:102923431 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 intron_variant -0.096064 0.15888 0.03204 0.061011 0.598865 0.0698953 0.9999806 TRUE NA ENSE00001747277_022 ENSE00001747277 022 1 103388839 103389008 - 53 54 63 C T 103388987 2819 22 GACCAAACTTTTTTTTTTAAAAACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923430 102923431 102923431 upstr_intron -42 -0.6507937 GACCAAACTTTTTTTTTTAAAAACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 2908 122 0.9276021 1 0.963801 NA NA 0.9777223 0.8266648 NA NA -0.05012021 0.1733352 NA 0.9021935 NA 0.06160751 NA FALSE NA 0 0.207 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001747277 intron_variant -0.03715 0.14028 0.02867 0.061011 0.2477319 0.0698953 0.9999806 TRUE NA ENSE00001747277_025 ENSE00001747277 025 1 103388839 103389008 - 53 54 63 A T 103388991 2822 18 GACCAAACTTTTTTTTTAAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 102923434 102923435 102923435 upstr_intron -46 -0.7142857 GACCAAACTTTTTTTTTAAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA mutant NA NA NA NA NA 1089 589 0.9368886 0.9908668 0.9638777 NA NA 0.9777223 0.8266648 NA NA -0.04083369 0.164202 NA 0.9021935 NA 0.06168417 NA FALSE NA 0.002 -1.768 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 44/64 rs147848946 1 -:0.0387 -:0.0182 -:0.0288 NA -:0.0159 -:0.0974 -:0.0368 -:0.0503 -:0.1112 TAA A,T 1.001e-05 1:102923435 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001747277 intron_variant -0.238356 0.13876 0.04603 0.061011 0.6269061 0.0455939 0.9999806 TRUE NA ENSE00001747277_BRK ENSE00001747277 BRK 1 103388839 103389008 - 53 54 63 A,G; T,T NA NA NA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTTTGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGCCAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA 102923282 102923452 NA NA NA NA NA NA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTTTGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGCCAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA GACCAAACTTTTTTTTTTAAAGACATCAGTGACTTTTATTATTTTTCTATTATATTTTCTTAGGGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATGGTAAGTTTTTATTTTTGGTGTTTGATGGGTATGTGTTATATGCATGGCAGTCA control NA NA NA NA NA 1194 552 0 0.009246022 0.004623011 NA NA 0.9777223 0.8266648 NA NA -0.9777223 -0.8174187 NA 0.9021935 NA -0.8975705 NA TRUE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001747277 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001747304_000 ENSE00001747304 000 18 21946814 21946983 - 42 75 53 NA NA NA NA NA ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 NA NA NA NA NA NA ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT natural 406 666 0.7867578 0.8408531 0.8138055 10776 11197 0.8599607 0.8968376 0.8783991 0.7867578 0.8408531 0.8599607 0.8968376 0 0 0 0 0.8138055 0.8783991 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003679664 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001747304_013 ENSE00001747304 013 18 21946814 21946983 - 42 75 53 G C 21946879 349 105 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATGGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366914 24366915 24366915 exon -24 0.6933333 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATGGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 20 18 0.85 0.85 0.85 NA NA NA NA NA 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 NA NA 0.8138055 0.8783991 0.03619455 NA NA NA FALSE 1 5.496 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003679664 missense_variant 6.549729 0.98073 0.97507 0.706548 0.9988969 0 8.657011e-06 FALSE NA ENSE00001747304_018 ENSE00001747304 018 18 21946814 21946983 - 42 75 53 G T 21946890 354 94 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACAAGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366925 24366926 24366926 exon -35 0.5466667 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACAAGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant NA NA NA NA NA 880 184 0.8007322 0.8716061 0.8361691 0.7867578 0.8408531 0.8599607 0.8968376 NA NA -0.05922848 -0.0252315 0.8138055 0.8783991 NA -0.04222999 NA FALSE NA 1 4.938 NA NA NA OSBPL1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OSBPL1A NA NA NA ENSG00000141447 ENSE00003679664 missense_variant 6.73613 0.98833 0.96553 0.706548 0.9933143 0 4.106793e-05 FALSE 4.08801e-06 ENSE00001747304_BRK ENSE00001747304 BRK 18 21946814 21946983 - 42 75 53 A,G; T,T NA NA NA ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTTTGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGCCGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 NA NA NA NA NA NA ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTTTGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGCCGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT control 28 61 0.3254046 0.2061617 0.2657831 596 556 0.01291389 0.01235511 0.0126345 0.7867578 0.8408531 0.8599607 0.8968376 -0.4613532 -0.6346915 -0.8470468 -0.8844825 0.8138055 0.8783991 -0.5480223 -0.8657646 0.3177423 TRUE TRUE NA NA NA NA NA OSBPL1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OSBPL1A NA NA NA ENSG00000141447 ENSE00003679664 NA NA NA NA NA NA NA 4.106793e-05 FALSE NA ENSE00001747444_000 ENSE00001747444 000 X 3533815 3533984 - 41 78 51 NA NA NA NA NA CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 NA NA NA NA NA NA CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC natural 156 113 0.9486331 0.9626569 0.955645 1979 2036 0.9309569 0.9647552 0.9478561 0.9486331 0.9626569 0.9309569 0.9647552 0 0 0 0 0.955645 0.9478561 0 0 0 FALSE FALSE NA NA NA NA NA PRKX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKX NA NA NA ENSG00000183943 ENSE00003647868 NA NA NA NA NA NA NA 0.2214281 FALSE NA ENSE00001747444_001 ENSE00001747444 001 X 3533815 3533984 - 41 78 51 G A 3533832 30 153 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGATTCAGTATGCCCGAGCTC 3615773 3615943 3615790 3615791 3615791 downstr_intron 24 1.6 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGATTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 791 311 0.997635 0.988169 0.992902 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.06667807 0.02341375 0.955645 0.9478561 NA 0.04504591 NA FALSE NA 0.001 -0.258 . intron_variant MODIFIER PRKX HGNC 9441 ENST00000262848 7/8 1 NA AGT G,A 1.666e-05 X:3615791 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 intron_variant 0.028299 0.15364 0.00965 0 0.6134775 0.046323 0.2214281 FALSE 2.83316e-05 ENSE00001747444_002 ENSE00001747444 002 X 3533815 3533984 - 41 78 51 T A 3533846 31 139 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACTTATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615804 3615805 3615805 downstr_intron 10 1.25 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACTTATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 24 29 1 1 1 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.06904308 0.03524475 0.955645 0.9478561 NA 0.05214392 NA FALSE NA 0 -0.212 rs141012473 intron_variant MODIFIER PRKX HGNC 9441 ENST00000262848 7/8 rs141012473 1 A:0.0378 A:0.0014 NA A:0 A:0.001 A:0 A:0.0443 A:0.0003 ATG T,A 0.003735 X:3615805 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 intron_variant -0.015716 0.14094 0.01868 0 0.4801932 0.0851235 0.2214281 FALSE 0.00345815 ENSE00001747444_003 ENSE00001747444 003 X 3533815 3533984 - 41 78 51 T C 3533851 32 134 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACGACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615809 3615810 3615810 downstr_intron 5 1.125 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACGACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 371 713 1 1 1 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.06904308 0.03524475 0.955645 0.9478561 NA 0.05214392 NA FALSE NA 0.185 0.948 . splice_region_variant&intron_variant LOW PRKX HGNC 9441 ENST00000262848 7/8 1 NA TTG T,C 4.136e-05 X:3615810 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 splice_region_variant -0.247645 0.12017 0.0172 0 0.4385436 0.0862078 0.2214281 FALSE 7.02965e-05 ENSE00001747444_004 ENSE00001747444 004 X 3533815 3533984 - 41 78 51 C G 3533859 33 126 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTCAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615817 3615818 3615818 exon -4 0.9615385 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTCAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 1219 1602 0.9895112 0.9994448 0.994478 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.05855424 0.03468959 0.955645 0.9478561 NA 0.04662191 NA FALSE NA 0.957 -0.168 . synonymous_variant LOW PRKX HGNC 9441 ENST00000262848 7/9 rs367895997 1 NA G:0 G:0.0001 TCA C,G 8.258e-06 X:3615818 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 synonymous_variant -0.320426 0.94423 0.62472 0 0.3461275 0 0.2214281 FALSE 6.24403e-06 ENSE00001747444_006 ENSE00001747444 006 X 3533815 3533984 - 41 78 51 C T 3533871 35 114 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCACAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615829 3615830 3615830 exon -16 0.8076923 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCACAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 678 81 0.8970585 0.807979 0.8525187 0.9486331 0.9626569 0.9309569 0.9647552 NA NA -0.03389847 -0.1567762 0.955645 0.9478561 NA -0.09533735 NA FALSE NA 0.003 -2.208 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:3615830 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 synonymous_variant 0.856525 0.08387 0.00687 0 0.5233362 0 0.2214281 FALSE NA ENSE00001747444_007 ENSE00001747444 007 X 3533815 3533984 - 41 78 51 C A 3533871 36 114 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCTCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615829 3615830 3615830 exon -16 0.8076923 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCTCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 674 369 0.9942436 0.9906498 0.9924467 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.0632867 0.02589458 0.955645 0.9478561 NA 0.04459064 NA FALSE NA 0.003 -2.208 NA NA NA PRKX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKX NA NA NA ENSG00000183943 ENSE00003647868 synonymous_variant 1.050472 0.09205 0.00638 0 0.4114665 0 0.2214281 FALSE NA ENSE00001747444_008 ENSE00001747444 008 X 3533815 3533984 - 41 78 51 G A 3533872 37 113 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCTGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615830 3615831 3615831 exon -17 0.7948718 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCTGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 236 135 0.9913747 0.8796137 0.9354942 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.06041778 -0.08514158 0.955645 0.9478561 NA -0.0123619 NA FALSE NA 1 7.168 rs138517585 missense_variant MODERATE PRKX HGNC 9441 ENST00000262848 7/9 rs138517585&COSM108888&rs138517585 1 tolerated(0.64) benign(0.002) NA A:0 A:0.0003 CGG G,A 0.0001484 X:3615831 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 missense_variant 0.998899 0.98337 0.98284 0 0.2834977 0 0.2214281 FALSE 0.000163813 ENSE00001747444_013 ENSE00001747444 013 X 3533815 3533984 - 41 78 51 C T 3533896 42 89 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCACTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615854 3615855 3615855 exon 38 0.4871795 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCACTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 315 1053 0.9946541 0.988786 0.99172 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.06369716 0.02403074 0.955645 0.9478561 NA 0.04386395 NA FALSE NA 0.991 2.366 . missense_variant MODERATE PRKX HGNC 9441 ENST00000262848 7/9 1 tolerated(0.18) possibly_damaging(0.696) NA GCG C,T 2.473e-05 X:3615855 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 missense_variant 2.875678 0.88093 0.51398 0 0.9909465 0 0.2214281 FALSE NA ENSE00001747444_014 ENSE00001747444 014 X 3533815 3533984 - 41 78 51 G A 3533897 43 88 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCTGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615855 3615856 3615856 exon 37 0.474359 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCTGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 374 234 0.937534 0.944286 0.94091 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.006577054 -0.02046921 0.955645 0.9478561 NA -0.006946079 NA FALSE NA 1 3.499 rs141998823 missense_variant MODERATE PRKX HGNC 9441 ENST00000262848 7/9 rs141998823 1 deleterious(0.01) possibly_damaging(0.696) NA A:0.0005 A:0 CGG G,A 0.0001154 X:3615856 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 missense_variant 4.464128 0.97076 0.75599 0 0.9984295 0 0.2214281 FALSE 8.88089e-05 ENSE00001747444_015 ENSE00001747444 015 X 3533815 3533984 - 41 78 51 C T 3533905 44 80 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCAGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615863 3615864 3615864 exon 29 0.3717949 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCAGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 172 754 0.9889733 0.998933 0.9939531 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.05801641 0.03417772 0.955645 0.9478561 NA 0.04609707 NA FALSE NA 1 5.713 rs150699468 missense_variant MODERATE PRKX HGNC 9441 ENST00000262848 7/9 rs150699468 1 tolerated(0.15) benign(0.135) NA T:0 T:0.0003 CCG C,T 9.066e-05 X:3615864 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 missense_variant 2.944705 0.98447 0.94421 0 0.9983873 0 0.2214281 FALSE 0.000223923 ENSE00001747444_017 ENSE00001747444 017 X 3533815 3533984 - 41 78 51 C T 3533925 46 60 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCAAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615883 3615884 3615884 exon 9 0.1153846 CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCAAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 55 521 1 0.9999269 0.9999635 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.06904308 0.03517167 0.955645 0.9478561 NA 0.05210738 NA FALSE NA 0.008 -2.188 . synonymous_variant LOW PRKX HGNC 9441 ENST00000262848 7/9 1 NA TCG C,T 1.649e-05 X:3615884 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 synonymous_variant 0.315624 0.15218 0.00399 0 0.5143256 0 0.2214281 FALSE 4.1161e-05 ENSE00001747444_020 ENSE00001747444 020 X 3533815 3533984 - 41 78 51 C T 3533956 49 29 CTGCCCTGTCAAAATTCTGTACACTGACAACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 3615914 3615915 3615915 upstr_intron -23 -0.4313725 CTGCCCTGTCAAAATTCTGTACACTGACAACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC mutant NA NA NA NA NA 133 307 0.9703458 0.9921929 0.9812693 0.9486331 0.9626569 0.9309569 0.9647552 NA NA 0.03938887 0.02743766 0.955645 0.9478561 NA 0.03341327 NA FALSE NA 0 0.884 . intron_variant MODIFIER PRKX HGNC 9441 ENST00000262848 6/8 1 NA TCG C,T 2.477e-05 X:3615915 PRKX HGNC Symbol protein_coding 109238 ENSG00000183943 ENSE00003647868 intron_variant -0.123531 0.11624 0.04056 0 0.6427832 0.046875 0.2214281 FALSE 2.42957e-05 ENSE00001747444_BRK ENSE00001747444 BRK X 3533815 3533984 - 41 78 51 A,G; T,T NA NA NA CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGATTAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGCCACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC 3615773 3615943 NA NA NA NA NA NA CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGATTAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGCCACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC CTGCCCTGTCAAAATTCTGTACACTGACGACATGTGTTGTTTCTTTTGAAGAACGGGGCGAATGATGTGAAGCATCATCGGTGGTTCCGCTCCGTGGACTGGGAAGCTGTTCCGCAGAGAAAACTGAAGGTACAACACATATCAGTGGGTGACTCAGTATGCCCGAGCTC control 34 25 0 0 0 397 290 0.0601722 0.001104696 0.03063845 0.9486331 0.9626569 0.9309569 0.9647552 -0.9486331 -0.9626569 -0.8707847 -0.9636506 0.955645 0.9478561 -0.955645 -0.9172176 0.03842737 TRUE TRUE NA NA NA NA NA PRKX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKX NA NA NA ENSG00000183943 ENSE00003647868 NA NA NA NA NA NA NA 0.2214281 FALSE NA ENSE00001747870_000 ENSE00001747870 000 17 18042797 18042966 + 51 78 41 NA NA NA NA NA TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 NA NA NA NA NA NA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA natural 10 14 0.9961432 1 0.9980716 1827 2035 0.9875748 0.9982416 0.9929082 0.9961432 1 0.9875748 0.9982416 0 0 0 0 0.9980716 0.9929082 0 0 0 FALSE FALSE NA NA NA NA NA MYO15A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO15A NA NA NA ENSG00000091536 ENSE00003489753 NA NA NA NA NA NA NA NA NA NA ENSE00001747870_001 ENSE00001747870 001 17 18042797 18042966 + 51 78 41 G A 18042810 927 14 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTTTGTCTCTCTGTCT 18139482 18139652 18139495 18139496 18139496 upstr_intron -38 -0.7254902 AGACAGAGAGACAAAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 576 813 0.9967521 0.9986308 0.9976915 0.9961432 1 0.9875748 0.9982416 NA NA 0.009177219 0.0003892332 0.9980716 0.9929082 NA 0.004783226 NA FALSE NA 0 0.672 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 18/65 1 NA AGA G,A 1.654e-05 17:18139496 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant 0.169762 0.24385 0.10583 0.065574 0.4952103 0.086317 NA NA 8.45294e-06 ENSE00001747870_003 ENSE00001747870 003 17 18042797 18042966 + 51 78 41 G C 18042812 929 16 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCGTCTGTCTCTCTGTCT 18139482 18139652 18139497 18139498 18139498 upstr_intron -36 -0.6862745 AGACAGAGAGACAGACGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 296 684 1 0.9771186 0.9885593 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 -0.02112305 0.9980716 0.9929082 NA -0.004348947 NA FALSE NA 0.007 0.433 NA NA NA MYO15A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:18139498 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant -0.260809 0.18569 0.02239 0.065574 0.59965 0.0852319 NA NA 4.20281e-06 ENSE00001747870_004 ENSE00001747870 004 17 18042797 18042966 + 51 78 41 C G 18042824 930 28 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGCGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139509 18139510 18139510 upstr_intron -24 -0.4509804 AGACAGAGAGACAGAGGCCAGGATTACGCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 136 270 0.9416577 1 0.9708289 0.9961432 1 0.9875748 0.9982416 NA NA -0.04591713 0.001758393 0.9980716 0.9929082 NA -0.02207937 NA FALSE NA 0 -0.457 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 18/65 1 NA CCC C,G 8.269e-06 17:18139510 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant -0.066883 0.15585 0.01274 0.065574 0.3657001 0.0456666 NA NA NA ENSE00001747870_005 ENSE00001747870 005 17 18042797 18042966 + 51 78 41 A G 18042831 931 35 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAACGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139516 18139517 18139517 upstr_intron -17 -0.3137255 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCGTTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 1014 3161 0.9910395 0.9998999 0.9954697 0.9961432 1 0.9875748 0.9982416 NA NA 0.00346466 0.001658316 0.9980716 0.9929082 NA 0.002561488 NA FALSE NA 0 -2.429 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 18/65 rs376058570 1 NA G:0.0002 G:0 CAT A,G 8.268e-06 17:18139517 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant -0.497301 0.13857 0.0059 0.065574 0.3759727 0.0601512 NA NA 1.63539e-05 ENSE00001747870_007 ENSE00001747870 007 17 18042797 18042966 + 51 78 41 G T 18042834 933 38 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAAAAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139519 18139520 18139520 upstr_intron -14 -0.254902 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTTTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 77 375 1 1 1 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 0.001758393 0.9980716 0.9929082 NA 0.007091772 NA FALSE NA 0 0.104 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 18/65 1 NA TGT G,T 4.96e-05 17:18139520 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant -0.497338 0.20865 0.04151 0.065574 0.38208 0.0601512 NA NA 7.3506e-05 ENSE00001747870_008 ENSE00001747870 008 17 18042797 18042966 + 51 78 41 T C 18042835 934 39 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAGCAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139520 18139521 18139521 upstr_intron -13 -0.2352941 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGCTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 1334 639 0.9609457 0.9966599 0.9788028 0.9961432 1 0.9875748 0.9982416 NA NA -0.02662914 -0.001581731 0.9980716 0.9929082 NA -0.01410543 NA FALSE NA 0 0.113 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 18/65 1 NA GTT T,C 4.134e-05 17:18139521 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant -0.155825 0.2184 0.06263 0.065574 0.3738565 0.0601512 NA NA 2.44858e-05 ENSE00001747870_009 ENSE00001747870 009 17 18042797 18042966 + 51 78 41 T G 18042844 935 48 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGCAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139529 18139530 18139530 upstr_intron -4 -0.05882353 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTGCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 757 358 1 0.8613123 0.9306561 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 -0.1369293 0.9980716 0.9929082 NA -0.06225209 NA FALSE NA 0 -1.354 . splice_region_variant&intron_variant LOW MYO15A HGNC 7594 ENST00000205890 18/65 1 NA TTC T,G 8.266e-06 17:18139530 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 splice_region_variant -0.857205 0.13939 0.04349 0.065574 0.5129291 0.157944 NA NA 4.07272e-06 ENSE00001747870_011 ENSE00001747870 011 17 18042797 18042966 + 51 78 41 G A 18042848 937 52 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCATCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139533 18139534 18139534 exon 1 0.01282051 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGATGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 668 2353 1 0.9995965 0.9997983 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 0.001354902 0.9980716 0.9929082 NA 0.006890026 NA FALSE NA 1 9.473 . missense_variant&splice_region_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 rs371591868 1 unknown(0) NA A:0.0002 A:0.0001 GGT G,A 2.479e-05 17:18139534 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 4.565015 0.96572 0.94475 0.497415 0.9965544 0 NA NA 1.62856e-05 ENSE00001747870_013 ENSE00001747870 013 17 18042797 18042966 + 51 78 41 A T 18042855 939 59 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACATGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139540 18139541 18139541 exon 8 0.1025641 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACATGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 605 814 1 0.9996112 0.9998056 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 0.001369615 0.9980716 0.9929082 NA 0.006897383 NA FALSE NA 1 8.966 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 rs529797013 1 unknown(0) T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 AAG A,T 0.0001983 17:18139541 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 4.543989 0.959 0.94418 0.497415 0.9786059 0 NA NA 0.000162715 ENSE00001747870_014 ENSE00001747870 014 17 18042797 18042966 + 51 78 41 C T 18042865 940 69 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTATCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139550 18139551 18139551 exon 18 0.2307692 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGATAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 391 104 0.9947848 1 0.9973924 0.9961432 1 0.9875748 0.9982416 NA NA 0.007209977 0.001758393 0.9980716 0.9929082 NA 0.004484185 NA FALSE NA 1 1.367 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 19/66 rs200272663 1 NA ACA C,T 4.958e-05 17:18139551 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 synonymous_variant 1.420581 0.91197 0.46145 0.497415 0.722453 0 NA NA 5.69212e-05 ENSE00001747870_015 ENSE00001747870 015 17 18042797 18042966 + 51 78 41 C G 18042874 941 78 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCCTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139559 18139560 18139560 exon 27 0.3461538 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCAGGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 619 39 0.8961786 0.9420242 0.9191014 0.9961432 1 0.9875748 0.9982416 NA NA -0.09139624 -0.0562174 0.9980716 0.9929082 NA -0.07380682 NA FALSE NA 0 -1.778 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:18139560 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 2.463964 0.83457 0.17977 0.497415 0.9488157 0 NA NA 0.000134168 ENSE00001747870_016 ENSE00001747870 016 17 18042797 18042966 + 51 78 41 C T 18042874 942 78 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCATGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139559 18139560 18139560 exon 27 0.3461538 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCATGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 483 125 0.9541749 0.9939975 0.9740862 0.9961432 1 0.9875748 0.9982416 NA NA -0.03339994 -0.004244157 0.9980716 0.9929082 NA -0.01882205 NA FALSE NA 0 -1.778 NA NA NA MYO15A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO15A NA NA NA ENSG00000091536 ENSE00003489753 synonymous_variant 2.201495 0.81391 0.04752 0.497415 0.655833 0 NA NA 2.03285e-05 ENSE00001747870_017 ENSE00001747870 017 17 18042797 18042966 + 51 78 41 G A 18042875 943 79 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTTGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139560 18139561 18139561 exon 28 0.3589744 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACAACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 203 1033 1 0.9828406 0.9914203 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 -0.01540101 0.9980716 0.9929082 NA -0.001487932 NA FALSE NA 1 9.473 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 1 unknown(0) NA CGA G,A 1.652e-05 17:18139561 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 5.488112 0.96753 0.945 0.497415 0.9985295 0 NA NA 8.13081e-06 ENSE00001747870_018 ENSE00001747870 018 17 18042797 18042966 + 51 78 41 G A 18042881 944 85 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCATTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139566 18139567 18139567 exon 34 0.4358974 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAATGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant 31 38 0.9599108 0.9853057 0.9726083 281 59 1 1 1 0.9961432 1 0.9875748 0.9982416 -0.03623246 -0.01469425 0.01242515 0.001758393 0.9980716 0.9929082 -0.02546336 0.007091772 0.03255513 FALSE FALSE 1 7.525 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 1 unknown(0) NA AGT G,A 1.652e-05 17:18139567 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 4.44373 0.96753 0.91712 0.497415 0.9966202 0 NA NA 8.13094e-06 ENSE00001747870_019 ENSE00001747870 019 17 18042797 18042966 + 51 78 41 T C 18042882 945 86 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCGCTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139567 18139568 18139568 exon 35 0.4487179 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGCGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 783 558 0.9952545 0.852679 0.9239667 0.9961432 1 0.9875748 0.9982416 NA NA 0.007679666 -0.1455627 0.9980716 0.9929082 NA -0.06894149 NA FALSE NA 1 7.721 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 1 unknown(0) NA GTG T,C 8.261e-06 17:18139568 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 3.990704 0.95997 0.91766 0.497415 0.9941792 0 NA NA 4.0659e-06 ENSE00001747870_020 ENSE00001747870 020 17 18042797 18042966 + 51 78 41 G A 18042883 946 87 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGTACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139568 18139569 18139569 exon 36 0.4615385 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTACGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 1590 1479 1 0.9989292 0.9994646 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 0.0006875641 0.9980716 0.9929082 NA 0.006556358 NA FALSE NA 0.967 0.023 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 19/66 1 NA TGC G,A 8.26e-06 17:18139569 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 synonymous_variant 0.970566 0.90821 0.56311 0.497415 0.7612566 0 NA NA 8.13226e-06 ENSE00001747870_022 ENSE00001747870 022 17 18042797 18042966 + 51 78 41 G A 18042885 948 89 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGTGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139570 18139571 18139571 exon 38 0.4871795 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCACCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 390 866 1 0.9775212 0.9887606 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 -0.02072037 0.9980716 0.9929082 NA -0.004147608 NA FALSE NA 1 9.473 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 1 unknown(0) NA CGC G,A 8.26e-06 17:18139571 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 4.438393 0.96753 0.945 0.497415 0.9962786 0 NA NA 2.03325e-05 ENSE00001747870_023 ENSE00001747870 023 17 18042797 18042966 + 51 78 41 G C 18042904 949 108 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAAGAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139589 18139590 18139590 exon -22 0.7307692 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTCTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 1720 2256 0.9976558 0.9985359 0.9980958 0.9961432 1 0.9875748 0.9982416 NA NA 0.01008091 0.0002943208 0.9980716 0.9929082 NA 0.005187614 NA FALSE NA 0.973 0.021 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 19/66 rs199873726 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 TGT G,C 9.91e-05 17:18139590 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 synonymous_variant 0.278365 0.89526 0.54619 0.497415 0.3891839 0 NA NA 6.10227e-05 ENSE00001747870_024 ENSE00001747870 024 17 18042797 18042966 + 51 78 41 C T 18042907 950 111 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACAAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139592 18139593 18139593 exon -19 0.7692308 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTTGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 525 202 0.998739 0.9715667 0.9851528 0.9961432 1 0.9875748 0.9982416 NA NA 0.01116416 -0.02667495 0.9980716 0.9929082 NA -0.007755398 NA FALSE NA 0 -0.69 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 19/66 COSM3514880 1 NA TCG C,T 3.304e-05 17:18139593 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 synonymous_variant 1.216386 0.43156 0.04404 0.497415 0.5036453 0 NA NA 6.51201e-05 ENSE00001747870_025 ENSE00001747870 025 17 18042797 18042966 + 51 78 41 G C 18042908 951 112 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTAGGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139593 18139594 18139594 exon -18 0.7820513 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCCTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 2376 158 0.998649 0.9989977 0.9988234 0.9961432 1 0.9875748 0.9982416 NA NA 0.01107418 0.0007561066 0.9980716 0.9929082 NA 0.005915142 NA FALSE NA 0.002 0.154 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:18139594 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 0.19844 0.5532 0.14389 0.497415 0.3131148 0 NA NA 0.000126181 ENSE00001747870_026 ENSE00001747870 026 17 18042797 18042966 + 51 78 41 G A 18042908 952 112 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTATGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139593 18139594 18139594 exon -18 0.7820513 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCATACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 1249 2173 0.9972183 0.995848 0.9965331 0.9961432 1 0.9875748 0.9982416 NA NA 0.009643413 -0.002393602 0.9980716 0.9929082 NA 0.003624906 NA FALSE NA 0.002 0.154 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO15A NA NA NA ENSG00000091536 ENSE00003489753 missense_variant -0.531248 0.5203 0.07313 0.497415 0.3735416 0 NA NA 4.07037e-06 ENSE00001747870_027 ENSE00001747870 027 17 18042797 18042966 + 51 78 41 C A 18042911 953 115 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCTTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139596 18139597 18139597 exon -15 0.8205128 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTAAGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 36 194 1 1 1 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 0.001758393 0.9980716 0.9929082 NA 0.007091772 NA FALSE NA 0.989 1.592 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:18139597 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 synonymous_variant 1.648547 0.54872 0.46742 0.497415 0.4199233 0 NA NA 0.000126208 ENSE00001747870_028 ENSE00001747870 028 17 18042797 18042966 + 51 78 41 C T 18042911 954 115 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCATACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139596 18139597 18139597 exon -15 0.8205128 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTATGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 433 152 0.977164 0.9984518 0.9878079 0.9961432 1 0.9875748 0.9982416 NA NA -0.01041086 0.0002101798 0.9980716 0.9929082 NA -0.005100338 NA FALSE NA 0.989 1.592 NA NA NA MYO15A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO15A NA NA NA ENSG00000091536 ENSE00003489753 missense_variant 3.790635 0.55725 0.55504 0.497415 0.9759235 0 NA NA 2.44274e-05 ENSE00001747870_029 ENSE00001747870 029 17 18042797 18042966 + 51 78 41 G A 18042912 955 116 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCTGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139597 18139598 18139598 exon -14 0.8333333 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACAGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 288 323 0.9915987 0.9901924 0.9908956 0.9961432 1 0.9875748 0.9982416 NA NA 0.004023892 -0.008049212 0.9980716 0.9929082 NA -0.00201266 NA FALSE NA 0.999 2.473 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 1 unknown(0) NA CGG G,A 8.258e-06 17:18139598 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 1.236 0.58091 0.48092 0.497415 0.7235684 0 NA NA 1.22146e-05 ENSE00001747870_030 ENSE00001747870 030 17 18042797 18042966 + 51 78 41 C T 18042917 956 121 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCAGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139602 18139603 18139603 exon -9 0.8974359 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCTGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 1216 729 0.9978482 0.9705742 0.9842112 0.9961432 1 0.9875748 0.9982416 NA NA 0.01027331 -0.02766739 0.9980716 0.9929082 NA -0.008697038 NA FALSE NA 1 4.302 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 1 unknown(0) NA CCG C,T 8.259e-06 17:18139603 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 5.068697 0.91838 0.70446 0.497415 0.9968299 0 NA NA 1.22185e-05 ENSE00001747870_031 ENSE00001747870 031 17 18042797 18042966 + 51 78 41 G A 18042918 957 122 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCTGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139603 18139604 18139604 exon -8 0.9102564 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCAGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 517 863 0.9941526 0.9998167 0.9969846 0.9961432 1 0.9875748 0.9982416 NA NA 0.00657771 0.001575091 0.9980716 0.9929082 NA 0.0040764 NA FALSE NA 1 3.823 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 rs373656823 1 unknown(0) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGG G,A 3.304e-05 17:18139604 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 3.055401 0.91819 0.7649 0.497415 0.9815139 0 NA NA 2.85214e-05 ENSE00001747870_032 ENSE00001747870 032 17 18042797 18042966 + 51 78 41 A G 18042922 958 126 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCCGCGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139607 18139608 18139608 exon -4 0.9615385 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACGCGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 980 395 0.9979159 1 0.998958 0.9961432 1 0.9875748 0.9982416 NA NA 0.01034107 0.001758393 0.9980716 0.9929082 NA 0.00604973 NA FALSE NA 0.004 -0.856 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 19/66 rs201526680 1 NA G:0 G:0.0001 CAC A,G 1.652e-05 17:18139608 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 synonymous_variant -0.725576 0.8192 0.07871 0.497415 0.2369028 0 NA NA 1.2223e-05 ENSE00001747870_033 ENSE00001747870 033 17 18042797 18042966 + 51 78 41 G A 18042924 959 128 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACCTGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139609 18139610 18139610 exon -2 0.9871795 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACAGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 736 255 0.9958453 1 0.9979227 0.9961432 1 0.9875748 0.9982416 NA NA 0.008270463 0.001758393 0.9980716 0.9929082 NA 0.005014428 NA FALSE NA 1 3.461 . missense_variant&splice_region_variant MODERATE MYO15A HGNC 7594 ENST00000205890 19/66 rs369518617 1 unknown(0) NA A:0 A:0.0001 CGG G,A 7.433e-05 17:18139610 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 missense_variant 2.883768 0.90025 0.63993 0.497415 0.9891661 0 NA NA 4.48354e-05 ENSE00001747870_034 ENSE00001747870 034 17 18042797 18042966 + 51 78 41 G A 18042925 960 129 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTACTCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139610 18139611 18139611 exon -1 1 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGAGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 1633 452 0.9564221 0.9504995 0.9534608 0.9961432 1 0.9875748 0.9982416 NA NA -0.03115277 -0.04774212 0.9980716 0.9929082 NA -0.03944744 NA FALSE NA 1 2.292 . splice_region_variant&synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 19/66 1 NA GGG G,A 8.259e-06 17:18139611 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 splice_region_variant 0.488784 0.88968 0.73898 0.497415 0.7494318 0 NA NA 4.07797e-06 ENSE00001747870_035 ENSE00001747870 035 17 18042797 18042966 + 51 78 41 C T 18042931 961 135 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGACTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139616 18139617 18139617 downstr_intron 6 1.15 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGTCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 155 2738 0.9696707 0.999847 0.9847588 0.9961432 1 0.9875748 0.9982416 NA NA -0.01790411 0.001605353 0.9980716 0.9929082 NA -0.008149379 NA FALSE NA 0.234 -0.141 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:18139617 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 splice_region_variant 0.113253 0.31381 0.02926 0.065574 0.5050402 0.114668 NA NA 2.4508e-05 ENSE00001747870_036 ENSE00001747870 036 17 18042797 18042966 + 51 78 41 C A 18042931 962 135 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGTCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139616 18139617 18139617 downstr_intron 6 1.15 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGACTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 1007 499 0.9170129 0.9996829 0.9583479 0.9961432 1 0.9875748 0.9982416 NA NA -0.07056196 0.001441323 0.9980716 0.9929082 NA -0.03456032 NA FALSE NA 0.234 -0.141 NA NA NA MYO15A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO15A NA NA NA ENSG00000091536 ENSE00003489753 splice_region_variant 0.423519 0.34865 0.16977 0.065574 0.4494382 0.114668 NA NA 1.2254e-05 ENSE00001747870_037 ENSE00001747870 037 17 18042797 18042966 + 51 78 41 C T 18042934 963 138 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCAAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139619 18139620 18139620 downstr_intron 9 1.225 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTTGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 645 133 0.9912839 0.9592975 0.9752907 0.9961432 1 0.9875748 0.9982416 NA NA 0.003709039 -0.03894412 0.9980716 0.9929082 NA -0.01761754 NA FALSE NA 0.052 0.088 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 19/65 rs201239911 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TCG C,T 8.262e-06 17:18139620 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant 0.219935 0.16157 0.06686 0.065574 0.5633115 0.102811 NA NA NA ENSE00001747870_038 ENSE00001747870 038 17 18042797 18042966 + 51 78 41 G A 18042935 964 139 TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGTGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139620 18139621 18139621 downstr_intron 10 1.25 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCACCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 330 100 0.998998 0.991586 0.995292 0.9961432 1 0.9875748 0.9982416 NA NA 0.0114232 -0.006655565 0.9980716 0.9929082 NA 0.002383817 NA FALSE NA 0.006 0.124 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 19/65 1 NA CGC G,A 5.784e-05 17:18139621 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant 0.048546 0.19446 0.07351 0.065574 0.5273175 0.102811 NA NA 2.86751e-05 ENSE00001747870_039 ENSE00001747870 039 17 18042797 18042966 + 51 78 41 A T 18042942 965 146 TGCCTGGGGGCAGGGCCAGAGCGGAGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139627 18139628 18139628 downstr_intron 17 1.425 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCTCCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 605 104 1 0.9984762 0.9992381 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 0.0002346394 0.9980716 0.9929082 NA 0.006329895 NA FALSE NA 0 -0.635 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 19/65 1 NA CAC A,T 4.957e-05 17:18139628 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant 0.021842 0.23992 0.06825 0.065574 0.3665777 0.10191 NA NA 3.6944e-05 ENSE00001747870_040 ENSE00001747870 040 17 18042797 18042966 + 51 78 41 C T 18042944 966 148 TGCCTGGGGGCAGGGCCAGAGCAGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139629 18139630 18139630 downstr_intron 19 1.475 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACTGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 618 14 1 0.9972345 0.9986172 0.9961432 1 0.9875748 0.9982416 NA NA 0.01242515 -0.001007124 0.9980716 0.9929082 NA 0.005709014 NA FALSE NA 0 -5.41 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 19/65 1 NA CCG C,T 8.262e-06 17:18139630 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant -0.089613 0.19918 0.03373 0.065574 0.3314217 0.10191 NA NA 2.0566e-05 ENSE00001747870_042 ENSE00001747870 042 17 18042797 18042966 + 51 78 41 G T 18042950 968 154 TGCCTGGGGGCAGGGCAAGAGCGGTGGGAGGCGAGGCTTACCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACCTGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 18139635 18139636 18139636 downstr_intron 25 1.625 AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTTGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA mutant NA NA NA NA NA 470 677 0.9900707 0.9987536 0.9944122 0.9961432 1 0.9875748 0.9982416 NA NA 0.002495847 0.000512018 0.9980716 0.9929082 NA 0.001503933 NA FALSE NA 0 -0.353 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 19/65 1 NA TGG G,T 8.263e-06 17:18139636 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00003489753 intron_variant -0.081038 0.24285 0.08304 0.065574 0.8089514 0.0706271 NA NA NA ENSE00001747870_BRK ENSE00001747870 BRK 17 18042797 18042966 + 51 78 41 A,G; T,T NA NA NA TGCCTGGGGGCAGGGCCAGAGCGGTGGGAGGCGAGGCTTGGCCGTGTCCGGCTCCGTACGAACAGGTCCAGCACATCCTGGCGCACTTGGTCGTGGTTCTTGTCCAGGAACTTGTGCACAAGAAAAGGGGAACAATGGCCTGGGTAATCCTGGCCTCTGTCTCTCTGTCT 18139482 18139652 NA NA NA NA NA NA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCTTGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGCCAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA AGACAGAGAGACAGAGGCCAGGATTACCCAGGCCATTGTTCCCCTTTTCAGGTGCACAAGTTCCTGGACAAGAACCACGACCAAGTGCGCCAGGATGTGCTGGACCTGTTCGTACGGAGCCGGACACGGGTAAGCCTCGCCTCCCACCGCTCTGGCCCTGCCCCCAGGCA control 250 19 0 0 0 97 406 0 0 0 0.9961432 1 0.9875748 0.9982416 -0.9961432 -1 -0.9875748 -0.9982416 0.9980716 0.9929082 -0.9980716 -0.9929082 0.005163387 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO15A NA NA NA ENSG00000091536 ENSE00003489753 NA NA NA NA NA NA NA NA NA NA ENSE00001747882_000 ENSE00001747882 000 14 96781452 96781621 - 39 81 50 NA NA NA NA NA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 NA NA NA NA NA NA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA natural 20 33 0.9923101 0.9876303 0.9899702 5655 5482 0.9710154 0.9769745 0.9739949 0.9923101 0.9876303 0.9710154 0.9769745 0 0 0 0 0.9899702 0.9739949 0 0 0 FALSE FALSE NA NA NA NA NA ATG2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATG2B NA NA NA ENSG00000066739 ENSE00001747882 NA NA NA NA NA NA NA 8.127428e-05 FALSE NA ENSE00001747882_001 ENSE00001747882 001 14 96781452 96781621 - 39 81 50 C A 96781470 1478 152 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATTTATTAATTTATTTAAAAA 96315114 96315284 96315132 96315133 96315133 downstr_intron 21 1.552632 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATTTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 2879 1282 0.9993406 0.9876952 0.9935179 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02832519 0.01072077 0.9899702 0.9739949 NA 0.01952298 NA FALSE NA 0 -1.385 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA ACA C,A 8.24e-06 14:96315133 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.461212 0.20378 0.04144 0.106106 0.6766833 0.0443366 8.127428e-05 FALSE NA ENSE00001747882_002 ENSE00001747882 002 14 96781452 96781621 - 39 81 50 A G 96781471 1479 151 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATACGTATTAATTTATTTAAAAA 96315114 96315284 96315133 96315134 96315134 downstr_intron 20 1.526316 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATACGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 2057 3608 0.8959823 0.8403024 0.8681424 0.9923101 0.9876303 0.9710154 0.9769745 NA NA -0.07503307 -0.136672 0.9899702 0.9739949 NA -0.1058526 NA FALSE NA 0.001 0.274 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA CAT A,G 8.24e-06 14:96315134 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.256562 0.19858 0.09922 0.106106 0.6652174 0.0443366 8.127428e-05 FALSE NA ENSE00001747882_003 ENSE00001747882 003 14 96781452 96781621 - 39 81 50 A T 96781473 1480 149 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATAAATGTATTAATTTATTTAAAAA 96315114 96315284 96315135 96315136 96315136 downstr_intron 18 1.473684 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATAAATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 317 1519 1 0.9972734 0.9986367 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02898459 0.02029891 0.9899702 0.9739949 NA 0.02464175 NA FALSE NA 0.001 0.199 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA TAT A,T 8.239e-06 14:96315136 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.449629 0.28303 0.21838 0.106106 0.7270374 0.0443366 8.127428e-05 FALSE 4.14044e-06 ENSE00001747882_004 ENSE00001747882 004 14 96781452 96781621 - 39 81 50 T C 96781474 1481 148 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATGTATGTATTAATTTATTTAAAAA 96315114 96315284 96315136 96315137 96315137 downstr_intron 17 1.447368 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATGTATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 1942 1215 0.9296385 0.9991138 0.9643761 0.9923101 0.9876303 0.9710154 0.9769745 NA NA -0.04137692 0.0221393 0.9899702 0.9739949 NA -0.00961881 NA FALSE NA 0 -0.844 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 rs370939000 1 NA C:0.0002 C:0 ATA T,C 2.472e-05 14:96315137 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.581306 0.16743 0.00604 0.106106 0.7254646 0.0443366 8.127428e-05 FALSE 8.25791e-06 ENSE00001747882_005 ENSE00001747882 005 14 96781452 96781621 - 39 81 50 A T 96781475 1482 147 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTAAATATGTATTAATTTATTTAAAAA 96315114 96315284 96315137 96315138 96315138 downstr_intron 16 1.421053 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTAAATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 2880 1007 0.9983464 0.9977732 0.9980598 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.027331 0.02079873 0.9899702 0.9739949 NA 0.02406486 NA FALSE NA 0 -0.363 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA TAT A,T 1.648e-05 14:96315138 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.470532 0.23294 0.12492 0.106106 0.7211125 0.0443366 8.127428e-05 FALSE 2.47164e-05 ENSE00001747882_006 ENSE00001747882 006 14 96781452 96781621 - 39 81 50 T C 96781485 1483 137 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGGGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315147 96315148 96315148 downstr_intron 6 1.157895 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGGGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant 16 20 1 1 1 6923 2468 0.9899536 0.9949593 0.9924565 0.9923101 0.9876303 0.9710154 0.9769745 0.00768988 0.01236968 0.01893819 0.01798487 0.9899702 0.9739949 0.01002978 0.01846153 0.008431752 FALSE FALSE 0.017 0.171 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA CTC T,C 8.237e-06 14:96315148 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 splice_region_variant 0.81549 0.24917 0.03015 0.106106 0.6808912 0.32303 8.127428e-05 FALSE 4.07398e-06 ENSE00001747882_007 ENSE00001747882 007 14 96781452 96781621 - 39 81 50 C T 96781494 1484 128 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAACAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315156 96315157 96315157 exon -4 0.962963 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAACAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 2361 3202 0.9974004 0.9843504 0.9908754 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02638498 0.007375983 0.9899702 0.9739949 NA 0.01688048 NA FALSE NA 0.538 -0.239 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA GCT C,T 1.647e-05 14:96315157 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 synonymous_variant 1.713275 0.96534 0.44951 0.562547 0.5386296 0 8.127428e-05 FALSE 8.13643e-06 ENSE00001747882_009 ENSE00001747882 009 14 96781452 96781621 - 39 81 50 T G 96781505 1486 117 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTCGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315167 96315168 96315168 exon -15 0.8271605 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTCGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 2287 1607 0.998859 0.9959316 0.9973953 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02784355 0.01895714 0.9899702 0.9739949 NA 0.02340034 NA FALSE NA 1 5.092 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA CTA T,G 8.237e-06 14:96315168 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 missense_variant 6.696528 0.98925 0.97013 0.562547 0.9986971 0 8.127428e-05 FALSE 4.06521e-06 ENSE00001747882_010 ENSE00001747882 010 14 96781452 96781621 - 39 81 50 G A 96781513 1487 109 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTTTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315175 96315176 96315176 exon -23 0.7283951 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTTTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 1599 2528 0.9997423 0.8794136 0.939578 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02872694 -0.09756085 0.9899702 0.9739949 NA -0.03441696 NA FALSE NA 0.942 4.145 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 rs201113967 1 NA A:0 A:0.0002 AGA G,A 0.0003706 14:96315176 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 missense_variant 3.831672 0.8734 0.86277 0.6512 0.9956002 0 8.127428e-05 FALSE 0.000434896 ENSE00001747882_011 ENSE00001747882 011 14 96781452 96781621 - 39 81 50 G T 96781520 1488 102 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGATTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315182 96315183 96315183 exon -30 0.6419753 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGATTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 1974 1542 0.9986085 1 0.9993042 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02759305 0.02302554 0.9899702 0.9739949 NA 0.02530929 NA FALSE NA 0.999 2.209 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA AGC G,T 8.237e-06 14:96315183 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 missense_variant 4.214928 0.98409 0.89687 0.6512 0.9730383 0 8.127428e-05 FALSE 8.12896e-06 ENSE00001747882_012 ENSE00001747882 012 14 96781452 96781621 - 39 81 50 T C 96781526 1489 96 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATGGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315188 96315189 96315189 exon -36 0.5679012 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATGGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 1182 1843 0.9883893 0.9995029 0.9939461 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.01737394 0.02252841 0.9899702 0.9739949 NA 0.01995117 NA FALSE NA 0.999 0.814 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA CTA T,C 8.237e-06 14:96315189 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 missense_variant 2.129396 0.97154 0.81664 0.6512 0.986095 0 8.127428e-05 FALSE 4.06415e-06 ENSE00001747882_013 ENSE00001747882 013 14 96781452 96781621 - 39 81 50 G T 96781533 1490 89 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTACAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315195 96315196 96315196 exon 39 0.4814815 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTACAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 867 2641 0.9989031 0.9029203 0.9509117 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02788772 -0.07405412 0.9899702 0.9739949 NA -0.0230832 NA FALSE NA 0.004 -1.292 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA GGA G,T 1.647e-05 14:96315196 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 synonymous_variant -0.123763 0.25293 0.08199 0.6512 0.5404439 0 8.127428e-05 FALSE 8.13002e-06 ENSE00001747882_014 ENSE00001747882 014 14 96781452 96781621 - 39 81 50 T A 96781554 1491 68 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTTGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315216 96315217 96315217 exon 18 0.2222222 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTTGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant 12 20 0.9960539 0.9890638 0.9925589 3509 984 0.8670275 0.99783 0.9324288 0.9923101 0.9876303 0.9710154 0.9769745 0.00374379 0.001433479 -0.1039879 0.02085558 0.9899702 0.9739949 0.002588635 -0.04156618 0.04415481 FALSE FALSE 0.236 -0.471 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 rs199646374 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CTA T,A 8.236e-06 14:96315217 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 synonymous_variant 0.824536 0.1853 0.08864 0.6512 0.602475 0 8.127428e-05 FALSE NA ENSE00001747882_015 ENSE00001747882 015 14 96781452 96781621 - 39 81 50 C T 96781556 1492 66 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCATAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315218 96315219 96315219 exon 16 0.1975309 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCATAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 2020 2651 0.9997961 0.9987621 0.9992791 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02878069 0.02178766 0.9899702 0.9739949 NA 0.02528417 NA FALSE NA 0.996 2.266 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA ACG C,T 4.118e-05 14:96315219 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 missense_variant 4.66447 0.97986 0.9095 0.6512 0.720828 0 8.127428e-05 FALSE 4.47482e-05 ENSE00001747882_016 ENSE00001747882 016 14 96781452 96781621 - 39 81 50 G A 96781557 1493 65 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCTGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315219 96315220 96315220 exon 15 0.1851852 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCTGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant 10 10 1 1 1 756 2809 0.9971342 0.9822262 0.9896802 0.9923101 0.9876303 0.9710154 0.9769745 0.00768988 0.01236968 0.02611876 0.005251762 0.9899702 0.9739949 0.01002978 0.01568526 0.005655482 FALSE FALSE 0.869 0.257 rs138748540 downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 rs138748540 1 NA A:0 A:0.0001 CGG G,A 5.765e-05 14:96315220 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 synonymous_variant 1.454623 0.86465 0.37668 0.6512 0.4451404 0 8.127428e-05 FALSE 5.69532e-05 ENSE00001747882_017 ENSE00001747882 017 14 96781452 96781621 - 39 81 50 T C 96781575 1494 47 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTGTAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315237 96315238 96315238 upstr_intron -4 -0.06 TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTGTAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant 12 22 0.9944158 0.9951093 0.9947625 667 1908 0.9999383 0.9856867 0.9928125 0.9923101 0.9876303 0.9710154 0.9769745 0.00210565 0.007478983 0.02892288 0.008712196 0.9899702 0.9739949 0.004792316 0.01881754 0.01402522 FALSE FALSE 0 -2.404 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA ATA T,C 8.236e-06 14:96315238 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 splice_region_variant -0.194007 0.11508 0.01549 0.088506 0.553538 0.0990269 8.127428e-05 FALSE 8.14226e-06 ENSE00001747882_018 ENSE00001747882 018 14 96781452 96781621 - 39 81 50 G T 96781591 1495 31 TATAGGATTACATAGGTGGTAAATGTCATTATTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315253 96315254 96315254 upstr_intron -20 -0.38 TATAGGATTACATAGGTGGTAAATGTCATTATTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant 47 46 0.9676856 1 0.9838428 436 2647 0.8244788 0.99946 0.9119694 0.9923101 0.9876303 0.9710154 0.9769745 -0.02462448 0.01236968 -0.1465366 0.02248552 0.9899702 0.9739949 -0.006127397 -0.06202555 0.05589816 FALSE FALSE 0.067 1.029 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA AGA G,T 8.236e-06 14:96315254 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant -0.230565 0.23505 0.28005 0.088506 0.5355658 0.112686 8.127428e-05 FALSE 4.0846e-06 ENSE00001747882_019 ENSE00001747882 019 14 96781452 96781621 - 39 81 50 A G 96781592 1496 30 TATAGGATTACATAGGTGGTAAATGTCATCCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315254 96315255 96315255 upstr_intron -21 -0.4 TATAGGATTACATAGGTGGTAAATGTCATCCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 1182 2900 0.9030015 1 0.9515008 0.9923101 0.9876303 0.9710154 0.9769745 NA NA -0.0680139 0.02302554 0.9899702 0.9739949 NA -0.02249418 NA FALSE NA 0.08 1.947 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA GAA A,G 8.236e-06 14:96315255 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.187583 0.27808 0.14291 0.088506 0.6360285 0.112686 8.127428e-05 FALSE 8.17294e-06 ENSE00001747882_020 ENSE00001747882 020 14 96781452 96781621 - 39 81 50 C T 96781604 1497 18 TATAGGATTACATAGGTAGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315266 96315267 96315267 upstr_intron -33 -0.64 TATAGGATTACATAGGTAGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 520 2100 0.8783144 0.9920088 0.9351616 0.9923101 0.9876303 0.9710154 0.9769745 NA NA -0.09270103 0.01503436 0.9899702 0.9739949 NA -0.03883333 NA FALSE NA 0 -0.028 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA CCA C,T 8.236e-06 14:96315267 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.775336 0.41124 0.01967 0.088506 0.7398595 0.0640786 8.127428e-05 FALSE NA ENSE00001747882_021 ENSE00001747882 021 14 96781452 96781621 - 39 81 50 C T 96781606 1498 16 TATAGGATTACATAGATGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315268 96315269 96315269 upstr_intron -35 -0.68 TATAGGATTACATAGATGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant 20 20 0.9981694 1 0.9990847 1496 965 0.9994762 0.9994005 0.9994383 0.9923101 0.9876303 0.9710154 0.9769745 0.005859272 0.01236968 0.02846075 0.02242608 0.9899702 0.9739949 0.009114477 0.02544342 0.01632894 FALSE FALSE 0 0.074 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 1 NA ACC C,T 1.647e-05 14:96315269 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.985077 0.91003 0.2533 0.088506 0.6839554 0.586981 8.127428e-05 FALSE 1.66055e-05 ENSE00001747882_022 ENSE00001747882 022 14 96781452 96781621 - 39 81 50 T C 96781610 1499 12 TATAGGATTACGTAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 96315272 96315273 96315273 upstr_intron -39 -0.76 TATAGGATTACGTAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA mutant NA NA NA NA NA 1772 1137 0.9997443 0.9909781 0.9953612 0.9923101 0.9876303 0.9710154 0.9769745 NA NA 0.02872885 0.01400368 0.9899702 0.9739949 NA 0.02136626 NA FALSE NA 0 -0.429 . downstream_gene_variant MODIFIER ATG2B HGNC 20187 ENST00000488421 rs375401254 1 NA C:0.0002 C:0 ATG T,C 2.471e-05 14:96315273 ATG2B HGNC Symbol protein_coding 84668 ENSG00000066739 ENSE00001747882 intron_variant 0.266654 0.16209 0.00825 0.088506 0.6644941 0.0443366 8.127428e-05 FALSE 1.24034e-05 ENSE00001747882_BRK ENSE00001747882 BRK 14 96781452 96781621 - 39 81 50 A,G; T,T NA NA NA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATTTGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGCCAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA 96315114 96315284 NA NA NA NA NA NA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATTTGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGCCAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA TATAGGATTACATAGGTGGTAAATGTCATTCTTTGTCTTGTTCTGTATAGGAATTTCTCATTGCCGTAGGACTGAAAGGAGCCACTCTCCAGCATAGAATGCTTCCTTCTGGGCTTAGCTGGCATGAGCAGGTAAGAGAGCTGTTATATATGTATTAATTTATTTAAAAA control NA NA NA NA NA 1114 2953 0.007933425 0.008245402 0.008089413 0.9923101 0.9876303 0.9710154 0.9769745 NA NA -0.963082 -0.9687291 0.9899702 0.9739949 NA -0.9659055 NA TRUE NA NA NA NA NA NA ATG2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATG2B NA NA NA ENSG00000066739 ENSE00001747882 NA NA NA NA NA NA NA 8.127428e-05 FALSE NA ENSE00001748465_000 ENSE00001748465 000 7 74191563 74191732 + 50 81 39 NA NA NA NA NA AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 NA NA NA NA NA NA AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT natural 32 36 0.999739 0.9951223 0.9974306 1826 1384 0.9447139 0.9197403 0.9322271 0.999739 0.9951223 0.9447139 0.9197403 0 0 0 0 0.9974306 0.9322271 0 0 0 FALSE FALSE NA NA NA NA NA NCF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCF1 NA NA NA ENSG00000158517 ENSE00003588641 NA NA NA NA NA NA NA 0.9233596 TRUE NA ENSE00001748465_001 ENSE00001748465 001 7 74191563 74191732 + 50 81 39 A G 74191581 1261 19 AAGCCTCTTTGGAGGCTGGATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777234 74777235 74777235 upstr_intron -32 -0.62 AAGCCTCTTTGGAGGCTGGATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 27 667 0.9251557 0.8 0.8625779 0.999739 0.9951223 0.9447139 0.9197403 NA NA -0.01955824 -0.1197403 0.9974306 0.9322271 NA -0.06964925 NA FALSE NA 0.951 3.053 . upstream_gene_variant MODIFIER NCF1 HGNC 7660 ENST00000442021 1 NA GAA A,G 2.471e-05 7:74777235 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 intron_variant 0.495795 0.79349 0.85616 0.184171 0.7395958 0.0906981 0.9233596 TRUE 1.64587e-05 ENSE00001748465_003 ENSE00001748465 003 7 74191563 74191732 + 50 81 39 G A 74191587 1263 25 AAGCCTCTTTGGAGGCTGAATGGGATCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777240 74777241 74777241 upstr_intron -26 -0.5 AAGCCTCTTTGGAGGCTGAATGGGATCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 82 485 0.9938175 0.860296 0.9270568 0.999739 0.9951223 0.9447139 0.9197403 NA NA 0.04910354 -0.05944423 0.9974306 0.9322271 NA -0.005170347 NA FALSE NA 0.01 0.726 . upstream_gene_variant MODIFIER NCF1 HGNC 7660 ENST00000442021 1 NA GGT G,A 2.471e-05 7:74777241 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 intron_variant 0.279587 0.13959 0.03353 0.184171 0.758406 0.0492639 0.9233596 TRUE 1.22931e-05 ENSE00001748465_006 ENSE00001748465 006 7 74191563 74191732 + 50 81 39 G A 74191600 1266 38 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTAGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777253 74777254 74777254 upstr_intron -13 -0.24 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTAGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 79 214 0.974457 0.952895 0.963676 0.999739 0.9951223 0.9447139 0.9197403 NA NA 0.02974302 0.03315471 0.9974306 0.9322271 NA 0.03144887 NA FALSE NA 0 -0.097 . upstream_gene_variant MODIFIER NCF1 HGNC 7660 ENST00000442021 1 NA TGG G,A 8.236e-06 7:74777254 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 intron_variant 0.984062 0.15057 0.05161 0.184171 0.8310428 0.0492639 0.9233596 TRUE 4.07272e-06 ENSE00001748465_007 ENSE00001748465 007 7 74191563 74191732 + 50 81 39 C T 74191609 1267 47 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCTCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777262 74777263 74777263 upstr_intron -4 -0.06 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCTCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 491 205 1 1 1 0.999739 0.9951223 0.9447139 0.9197403 NA NA 0.05528605 0.08025974 0.9974306 0.9322271 NA 0.06777289 NA FALSE NA 0 -1.316 . upstream_gene_variant MODIFIER NCF1 HGNC 7660 ENST00000442021 1 NA CCC C,T 8.236e-06 7:74777263 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 splice_region_variant 1.178911 0.1539 0.02072 0.262962 0.8858637 0.202225 0.9233596 TRUE 4.06848e-06 ENSE00001748465_008 ENSE00001748465 008 7 74191563 74191732 + 50 81 39 C A 74191610 1268 48 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCAAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777263 74777264 74777264 upstr_intron -3 -0.04 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCAAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 34 552 0.8831713 0.9964343 0.9398028 0.999739 0.9951223 0.9447139 0.9197403 NA NA -0.0615427 0.07669403 0.9974306 0.9322271 NA 0.007575667 NA FALSE NA 0.012 0.979 . upstream_gene_variant MODIFIER NCF1 HGNC 7660 ENST00000442021 1 NA CCA C,A 0.0003706 7:74777264 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 splice_region_variant 1.603093 0.93418 0.2457 0.262962 0.9046871 0.398171 0.9233596 TRUE 0.000292916 ENSE00001748465_010 ENSE00001748465 010 7 74191563 74191732 + 50 81 39 G A 74191615 1270 53 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTATACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777268 74777269 74777269 exon 3 0.03703704 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTATACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 99 340 1 0.9974989 0.9987494 0.999739 0.9951223 0.9447139 0.9197403 NA NA 0.05528605 0.07775859 0.9974306 0.9322271 NA 0.06652232 NA FALSE NA 0.764 -0.43 . synonymous_variant LOW NCF1 HGNC 7660 ENST00000442021 1/5 CD941729 1 NA TGT ,A 8.236e-06 7:74777269 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 splice_region_variant 1.723534 0.9529 0.40288 0.706298 0.9091894 0 0.9233596 TRUE 4.14456e-06 ENSE00001748465_011 ENSE00001748465 011 7 74191563 74191732 + 50 81 39 A G 74191619 1271 57 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACGTGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777272 74777273 74777273 exon 7 0.08641975 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACGTGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 125 19 0.9808029 0.9915835 0.9861932 0.999739 0.9951223 0.9447139 0.9197403 NA NA 0.036089 0.07184328 0.9974306 0.9322271 NA 0.05396614 NA FALSE NA 1 8.327 . missense_variant MODERATE NCF1 HGNC 7660 ENST00000442021 1/5 1 possibly_damaging(0.477) NA CAT A,G 8.236e-06 7:74777273 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 missense_variant 2.668014 0.98079 0.97774 0.706298 0.9930909 0 0.9233596 TRUE 4.06805e-06 ENSE00001748465_013 ENSE00001748465 013 7 74191563 74191732 + 50 81 39 C T 74191624 1273 62 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTTCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777277 74777278 74777278 exon 12 0.1481481 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTTCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 56 85 1 1 1 0.999739 0.9951223 0.9447139 0.9197403 NA NA 0.05528605 0.08025974 0.9974306 0.9322271 NA 0.06777289 NA FALSE NA 0.997 0.501 . synonymous_variant LOW NCF1 HGNC 7660 ENST00000442021 1/5 1 NA TCC C,T 8.236e-06 7:74777278 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 synonymous_variant 1.190038 0.95495 0.68696 0.706298 0.9012005 0 0.9233596 TRUE 8.13703e-06 ENSE00001748465_017 ENSE00001748465 017 7 74191563 74191732 + 50 81 39 C T 74191664 1277 102 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACTGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777317 74777318 74777318 exon -30 0.6419753 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACTGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 593 151 0.8651655 1 0.9325827 0.999739 0.9951223 0.9447139 0.9197403 NA NA -0.07954849 0.08025974 0.9974306 0.9322271 NA 0.0003556242 NA FALSE NA 1 2.453 . missense_variant MODERATE NCF1 HGNC 7660 ENST00000442021 1/5 1 probably_damaging(0.998) NA CCG C,T 5.766e-05 7:74777318 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 missense_variant 6.500337 0.97584 0.8456 0.706298 0.9991131 0 0.9233596 TRUE 3.28326e-05 ENSE00001748465_019 ENSE00001748465 019 7 74191563 74191732 + 50 81 39 C T 74191675 1279 113 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACTGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 74777328 74777329 74777329 exon -19 0.7777778 AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACTGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT mutant NA NA NA NA NA 60 546 1 0.9794536 0.9897268 0.999739 0.9951223 0.9447139 0.9197403 NA NA 0.05528605 0.05971332 0.9974306 0.9322271 NA 0.05749969 NA FALSE NA 0 -9.505 . synonymous_variant LOW NCF1 HGNC 7660 ENST00000442021 1/5 1 NA CCG C,T 1.648e-05 7:74777329 NCF1 HGNC Symbol protein_coding 15353 ENSG00000158517 ENSE00003588641 synonymous_variant 0.95269 0.04723 0.00387 0.706298 0.8621506 0 0.9233596 TRUE 1.66215e-05 ENSE00001748465_BRK ENSE00001748465 BRK 7 74191563 74191732 + 50 81 39 A,G; T,T NA NA NA AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCTTGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATCCGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT 74777216 74777386 NA NA NA NA NA NA AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCTTGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATCCGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT AAGCCTCTTTGGAGGCTGAATGGGGTCCCCCGACTCTGGCTTTCCCCCAGGTGTACATGTTCCTGGTGAAATGGCAGGACCTGTCGGAGAAGGTGGTCTACCGGCGCTTCACCGAGATCTACGAGTTCCATGTGAGTGTGGGGACGGAGGAGGGACAGGGACCCACCGTT control 56 11 0 0 0 348 424 0.005225165 0.001950949 0.003588057 0.999739 0.9951223 0.9447139 0.9197403 -0.999739 -0.9951223 -0.9394888 -0.9177893 0.9974306 0.9322271 -0.9974306 -0.928639 0.0687916 TRUE TRUE NA NA NA NA NA NCF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCF1 NA NA NA ENSG00000158517 ENSE00003588641 NA NA NA NA NA NA NA 0.9233596 TRUE NA ENSE00001748923_000 ENSE00001748923 000 4 39267632 39267801 + 51 78 41 NA NA NA NA NA TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG 39266011 39266181 NA NA NA NA NA NA TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG natural 87 102 0.8955024 0.85 0.8727512 998 1120 0.9210053 0.9575753 0.9392903 0.8955024 0.85 0.9210053 0.9575753 0 0 0 0 0.8727512 0.9392903 0 0 0 FALSE FALSE NA NA NA NA NA WDR19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR19 NA NA NA ENSG00000157796 ENSE00003680929 NA NA NA NA NA NA NA 1.731113e-07 FALSE NA ENSE00001748923_003 ENSE00001748923 003 4 39267632 39267801 + 51 78 41 T C 39267748 628 117 TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGACGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG 39266011 39266181 39266127 39266128 39266128 exon -13 0.8461538 TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGACGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG mutant NA NA NA NA NA 15 147 0.9723754 0.8440134 0.9081944 0.8955024 0.85 0.9210053 0.9575753 NA NA 0.05137009 -0.1135618 0.8727512 0.9392903 NA -0.03109586 NA FALSE NA 0.844 -0.11 . upstream_gene_variant MODIFIER WDR19 HGNC 18340 ENST00000512534 rs371128500 1 NA C:0 C:0.0004 ATG T,C 0.0003942 4:39266128 WDR19 HGNC Symbol protein_coding 103406 ENSG00000157796 ENSE00003680929 synonymous_variant -1.022219 0.95764 0.53773 0.736574 0.3724171 0 1.731113e-07 FALSE 0.000530736 ENSE00001748923_005 ENSE00001748923 005 4 39267632 39267801 + 51 78 41 C T 39267771 630 140 TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACATGTGGGCTTCGTGTGCATCCTCAGGTCTCAG 39266011 39266181 39266150 39266151 39266151 downstr_intron 11 1.275 TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACATGTGGGCTTCGTGTGCATCCTCAGGTCTCAG TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG mutant NA NA NA NA NA 322 478 0.9439106 0.9591974 0.951554 0.8955024 0.85 0.9210053 0.9575753 NA NA 0.02290534 0.00162215 0.8727512 0.9392903 NA 0.01226375 NA FALSE NA 0.001 0.224 . upstream_gene_variant MODIFIER WDR19 HGNC 18340 ENST00000512534 rs202231140 1 NA ACG C,T 1.76e-05 4:39266151 WDR19 HGNC Symbol protein_coding 103406 ENSG00000157796 ENSE00003680929 intron_variant -0.056679 0.11655 0.00089 0.084033 0.44657 0.0600639 1.731113e-07 FALSE NA ENSE00001748923_006 ENSE00001748923 006 4 39267632 39267801 + 51 78 41 G A 39267772 631 141 TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACATGGGCTTCGTGTGCATCCTCAGGTCTCAG 39266011 39266181 39266151 39266152 39266152 downstr_intron 12 1.3 TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACATGGGCTTCGTGTGCATCCTCAGGTCTCAG TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG mutant NA NA NA NA NA 1182 20 0.8153007 0.9422232 0.8787619 0.8955024 0.85 0.9210053 0.9575753 NA NA -0.1057046 -0.01535203 0.8727512 0.9392903 NA -0.06052833 NA FALSE NA 0 -0.57 rs137960733 upstream_gene_variant MODIFIER WDR19 HGNC 18340 ENST00000512534 rs137960733 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0015 A:0 CGT G,A 0.0001319 4:39266152 WDR19 HGNC Symbol protein_coding 103406 ENSG00000157796 ENSE00003680929 intron_variant -0.140544 0.13879 0.01121 0.084033 0.4625124 0.0982771 1.731113e-07 FALSE 0.000128218 ENSE00001748923_007 ENSE00001748923 007 4 39267632 39267801 + 51 78 41 G A 39267774 632 143 TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTAGGCTTCGTGTGCATCCTCAGGTCTCAG 39266011 39266181 39266153 39266154 39266154 downstr_intron 14 1.35 TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTAGGCTTCGTGTGCATCCTCAGGTCTCAG TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG mutant NA NA NA NA NA 1475 924 0.8043083 0.8964706 0.8503894 0.8955024 0.85 0.9210053 0.9575753 NA NA -0.116697 -0.0611047 0.8727512 0.9392903 NA -0.08890086 NA FALSE NA 0 -0.03 . upstream_gene_variant MODIFIER WDR19 HGNC 18340 ENST00000512534 1 NA TGG G,A 8.789e-06 4:39266154 WDR19 HGNC Symbol protein_coding 103406 ENSG00000157796 ENSE00003680929 intron_variant -0.116254 0.10984 0.02775 0.084033 0.428692 0.10016 1.731113e-07 FALSE NA ENSE00001748923_BRK ENSE00001748923 BRK 4 39267632 39267801 + 51 78 41 A,G; T,T NA NA NA TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACTTGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGCCACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG 39266011 39266181 NA NA NA NA NA NA TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACTTGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGCCACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG TGCTCGGTTTAAGATGCTGAATTTGCTGGGTTTTTCTCTCTTATTAAACAGGTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGGGAGAACGATGGCATGCCTAAGGTACTGAACACGTGGGCTTCGTGTGCATCCTCAGGTCTCAG control NA NA NA NA NA 184 328 0.1096123 0 0.05480615 0.8955024 0.85 0.9210053 0.9575753 NA NA -0.811393 -0.9575753 0.8727512 0.9392903 NA -0.8844841 NA TRUE NA NA NA NA NA NA WDR19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WDR19 NA NA NA ENSG00000157796 ENSE00003680929 NA NA NA NA NA NA NA 1.731113e-07 FALSE NA ENSE00001749051_000 ENSE00001749051 000 12 48390290 48390459 - 41 78 51 NA NA NA NA NA TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 NA NA NA NA NA NA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA natural NA NA NA NA NA 1020 958 0.9875343 0.9961893 0.9918618 NA NA 0.9875343 0.9961893 NA NA 0 0 NA 0.9918618 NA 0 NA FALSE NA NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001749051 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001749051_001 ENSE00001749051 001 12 48390290 48390459 - 41 78 51 T C 48390334 1384 126 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATCGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996550 47996551 47996551 exon -4 0.9615385 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCGATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 50 41 1 1 1 NA NA 0.9875343 0.9961893 NA NA 0.01246573 0.003810652 NA 0.9918618 NA 0.008138193 NA FALSE NA 0 -1.948 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA TTG T,C 2.471e-05 12:47996551 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 synonymous_variant -0.203765 0.72118 0.1457 0.625279 0.6357026 0 1 TRUE 2.03034e-05 ENSE00001749051_003 ENSE00001749051 003 12 48390290 48390459 - 41 78 51 A G 48390354 1386 106 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAGCTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996570 47996571 47996571 exon -24 0.7051282 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGCTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 750 786 1 0.994528 0.997264 NA NA 0.9875343 0.9961893 NA NA 0.01246573 -0.001661367 NA 0.9918618 NA 0.005402184 NA FALSE NA 1 2.123 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA AAC A,G 8.236e-06 12:47996571 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 synonymous_variant 0.337246 0.98548 0.82082 0.625279 0.6970235 0 1 TRUE 8.12183e-06 ENSE00001749051_005 ENSE00001749051 005 12 48390290 48390459 - 41 78 51 G A 48390361 1388 99 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCACCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996577 47996578 47996578 exon -31 0.6153846 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGTGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 12 168 1 0.9995457 0.9997728 NA NA 0.9875343 0.9961893 NA NA 0.01246573 0.003356305 NA 0.9918618 NA 0.00791102 NA FALSE NA 0.004 -1.124 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs374674474 1 NA A:0 A:0.0001 CGC G,A 0.0001235 12:47996578 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 synonymous_variant 1.064937 0.94069 0.05995 0.625279 0.5485524 0 1 TRUE 8.5282e-05 ENSE00001749051_007 ENSE00001749051 007 12 48390290 48390459 - 41 78 51 C T 48390370 1390 90 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCTTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996586 47996587 47996587 exon 39 0.5 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAAGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 114 24 1 1 1 NA NA 0.9875343 0.9961893 NA NA 0.01246573 0.003810652 NA 0.9918618 NA 0.008138193 NA FALSE NA 0.953 0.121 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA CCT C,T 0.000173 12:47996587 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 synonymous_variant 1.610315 0.98274 0.74933 0.625279 0.6032547 0 1 TRUE 0.00011777 ENSE00001749051_008 ENSE00001749051 008 12 48390290 48390459 - 41 78 51 A G 48390376 1391 84 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCGTCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996592 47996593 47996593 exon 33 0.4230769 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGACGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 637 106 1 1 1 NA NA 0.9875343 0.9961893 NA NA 0.01246573 0.003810652 NA 0.9918618 NA 0.008138193 NA FALSE NA 0.995 0.48 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA CAT A,G 1.647e-05 12:47996593 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 synonymous_variant 0.173288 0.98453 0.79248 0.625279 0.4885821 0 1 TRUE 1.21832e-05 ENSE00001749051_009 ENSE00001749051 009 12 48390290 48390459 - 41 78 51 C T 48390390 1392 70 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGTCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996606 47996607 47996607 exon 19 0.2435897 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGACTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 16 1354 1 0.9978637 0.9989319 NA NA 0.9875343 0.9961893 NA NA 0.01246573 0.001674374 NA 0.9918618 NA 0.007070055 NA FALSE NA 1 1.453 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs201817670 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GCC C,T 0.0001812 12:47996607 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 missense_variant 2.919841 0.98725 0.89112 0.625279 0.9842538 0 1 TRUE 0.000154336 ENSE00001749051_010 ENSE00001749051 010 12 48390290 48390459 - 41 78 51 A G 48390404 1393 56 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAGAGTTCTGCAAAGAAACCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996620 47996621 47996621 exon 5 0.06410256 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTCTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 14 524 1 1 1 NA NA 0.9875343 0.9961893 NA NA 0.01246573 0.003810652 NA 0.9918618 NA 0.008138193 NA FALSE NA 1 8.958 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA AAA A,G 8.236e-06 12:47996621 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 missense_variant 3.204457 0.99436 0.98932 0.625279 0.9957426 0 1 TRUE 1.2185e-05 ENSE00001749051_012 ENSE00001749051 012 12 48390290 48390459 - 41 78 51 A C 48390419 1395 41 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAACCCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996635 47996636 47996636 upstr_intron -11 -0.1960784 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGGTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 254 200 1 0.9961012 0.9980506 NA NA 0.9875343 0.9961893 NA NA 0.01246573 -8.814197e-05 NA 0.9918618 NA 0.006188796 NA FALSE NA 0.055 2.278 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47996636 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 intron_variant -0.272242 0.87911 0.51586 0.06567 0.5297203 0.910355 1 TRUE 4.06312e-06 ENSE00001749051_013 ENSE00001749051 013 12 48390290 48390459 - 41 78 51 A T 48390419 1396 41 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAATCCCAACAACGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996635 47996636 47996636 upstr_intron -11 -0.1960784 GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGATTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 299 98 0.9977768 1 0.9988884 NA NA 0.9875343 0.9961893 NA NA 0.0102425 0.003810652 NA 0.9918618 NA 0.007026578 NA FALSE NA 0.055 2.278 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001749051 intron_variant -0.180911 0.87727 0.50123 0.06567 0.5552235 0.910355 1 TRUE NA ENSE00001749051_015 ENSE00001749051 015 12 48390290 48390459 - 41 78 51 C T 48390428 1398 32 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAATGTTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996644 47996645 47996645 upstr_intron -20 -0.372549 GGGAAGACCTAGTGCCTTTCAACCTCCTAACATTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 1923 279 1 0.9994327 0.9997164 NA NA 0.9875343 0.9961893 NA NA 0.01246573 0.003243375 NA 0.9918618 NA 0.007854555 NA FALSE NA 0 -0.441 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA ACG C,T 8.236e-06 12:47996645 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 intron_variant -0.6542 0.2363 0.02718 0.06567 0.4916868 0.065137 1 TRUE 4.06431e-06 ENSE00001749051_016 ENSE00001749051 016 12 48390290 48390459 - 41 78 51 G A 48390429 1399 31 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACATTAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996645 47996646 47996646 upstr_intron -21 -0.3921569 GGGAAGACCTAGTGCCTTTCAACCTCCTAATGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 175 86 1 0.984458 0.992229 NA NA 0.9875343 0.9961893 NA NA 0.01246573 -0.01173135 NA 0.9918618 NA 0.0003671944 NA FALSE NA 0 0.041 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA CGT A,A 8.236e-06 12:47996646 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 intron_variant -0.403673 0.2083 0.00276 0.06567 0.5271203 0.065137 1 TRUE 1.21947e-05 ENSE00001749051_017 ENSE00001749051 017 12 48390290 48390459 - 41 78 51 T C 48390431 1400 29 TCCTGCCATTTTGGCTGCAAAGAACTAGTGTCTTTTCTTACCATTGGTCCTTGCATTACTCCCAACTGGGCGCCACCAGCCTTTTCATCAAATCCTCCAGCCATCTGGGCAGCAAAGTTCTGCAAAGAAACCCAACAACGTCAGGAGGTTGAAAGGCACTAGGTCTTCCC 47996506 47996676 47996647 47996648 47996648 upstr_intron -23 -0.4313725 GGGAAGACCTAGTGCCTTTCAACCTCCTGACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA GGGAAGACCTAGTGCCTTTCAACCTCCTAACGTTGTTGGGTTTCTTTGCAGAACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATGGTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGA mutant NA NA NA NA NA 16 646 1 1 1 NA NA 0.9875343 0.9961893 NA NA 0.01246573 0.003810652 NA 0.9918618 NA 0.008138193 NA FALSE NA 0 -2.511 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA TTA T,C 8.236e-06 12:47996648 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001749051 intron_variant -0.542802 0.18879 0.02145 0.06567 0.4091847 0.065137 1 TRUE 4.06484e-06 ENSE00001749136_000 ENSE00001749136 000 4 89827492 89827661 - 38 84 48 NA NA NA NA NA GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 NA NA NA NA NA NA GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC natural 11 19 0.9651257 0.9479689 0.9565473 2930 2601 0.9629062 0.9961635 0.9795348 0.9651257 0.9479689 0.9629062 0.9961635 0 0 0 0 0.9565473 0.9795348 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM13A NA NA NA ENSG00000138640 ENSE00003568754 NA NA NA NA NA NA NA 2.454115e-14 FALSE NA ENSE00001749136_006 ENSE00001749136 006 4 89827492 89827661 - 38 84 48 T C 89827539 992 123 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCGAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 88906387 88906388 88906388 exon -10 0.8928571 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCGAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC mutant NA NA NA NA NA 39 212 1 1 1 0.9651257 0.9479689 0.9629062 0.9961635 NA NA 0.03709382 0.003836514 0.9565473 0.9795348 NA 0.02046516 NA FALSE NA 0.919 0.3 NA NA NA FAM13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:88906388 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003568754 synonymous_variant -0.452076 0.17441 0.26326 0.553676 0.5581625 0 2.454115e-14 FALSE 2.85999e-05 ENSE00001749136_010 ENSE00001749136 010 4 89827492 89827661 - 38 84 48 G A 89827553 996 109 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGTCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 88906401 88906402 88906402 exon -24 0.7261905 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGTCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC mutant NA NA NA NA NA 297 609 0.9930292 0.9988672 0.9959482 0.9651257 0.9479689 0.9629062 0.9961635 NA NA 0.03012297 0.002703689 0.9565473 0.9795348 NA 0.01641333 NA FALSE NA 0 0.325 . missense_variant MODERATE FAM13A HGNC 19367 ENST00000511976 5/18 rs560134560 1 tolerated_low_confidence(0.09) unknown(0) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGC G,A 8.236e-06 4:88906402 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003568754 missense_variant 0.16295 0.19395 0.02999 0.553676 0.9785708 0 2.454115e-14 FALSE 4.08878e-06 ENSE00001749136_011 ENSE00001749136 011 4 89827492 89827661 - 38 84 48 A C 89827555 997 107 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACAGGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 88906403 88906404 88906404 exon -26 0.702381 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACAGGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC mutant NA NA NA NA NA 93 175 0.9725316 1 0.9862658 0.9651257 0.9479689 0.9629062 0.9961635 NA NA 0.009625437 0.003836514 0.9565473 0.9795348 NA 0.006730976 NA FALSE NA 0 -0.556 . missense_variant MODERATE FAM13A HGNC 19367 ENST00000511976 5/18 1 deleterious_low_confidence(0.02) unknown(0) NA CAT A,C 8.236e-06 4:88906404 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003568754 missense_variant 0.143796 0.16393 0.02174 0.553676 0.8905593 0 2.454115e-14 FALSE 8.17474e-06 ENSE00001749136_012 ENSE00001749136 012 4 89827492 89827661 - 38 84 48 T C 89827556 998 106 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACGTGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 88906404 88906405 88906405 exon -27 0.6904762 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACGTGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC mutant NA NA NA NA NA 147 417 0.9352114 0.9996205 0.967416 0.9651257 0.9479689 0.9629062 0.9961635 NA NA -0.0276948 0.003457063 0.9565473 0.9795348 NA -0.01211887 NA FALSE NA 0 -1.677 . missense_variant MODERATE FAM13A HGNC 19367 ENST00000511976 5/18 1 tolerated_low_confidence(1) unknown(0) NA ATG T,C 8.236e-05 4:88906405 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003568754 missense_variant -0.99227 0.13637 0.00974 0.553676 0.7008813 0 2.454115e-14 FALSE 7.76664e-05 ENSE00001749136_016 ENSE00001749136 016 4 89827492 89827661 - 38 84 48 C T 89827571 1002 91 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAAGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 88906419 88906420 88906420 exon -42 0.5119048 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAAGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC mutant NA NA NA NA NA 134 520 1 0.9501263 0.9750631 0.9651257 0.9479689 0.9629062 0.9961635 NA NA 0.03709382 -0.04603723 0.9565473 0.9795348 NA -0.004471708 NA FALSE NA 0.638 1.094 . missense_variant MODERATE FAM13A HGNC 19367 ENST00000511976 5/18 1 tolerated_low_confidence(0.51) unknown(0) NA CCT C,T 8.236e-06 4:88906420 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003568754 missense_variant 1.383438 0.60822 0.29368 0.553676 0.9329147 0 2.454115e-14 FALSE 4.09216e-06 ENSE00001749136_017 ENSE00001749136 017 4 89827492 89827661 - 38 84 48 T C 89827574 1003 88 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAGGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 88906422 88906423 88906423 exon 40 0.4761905 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAGGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC mutant NA NA NA NA NA 748 407 1 0.9951498 0.9975749 0.9651257 0.9479689 0.9629062 0.9961635 NA NA 0.03709382 -0.001013637 0.9565473 0.9795348 NA 0.01804009 NA FALSE NA 0.895 1.867 . missense_variant MODERATE FAM13A HGNC 19367 ENST00000511976 5/18 1 deleterious_low_confidence(0.02) unknown(0) NA CTT T,C 8.236e-06 4:88906423 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003568754 missense_variant 1.936574 0.96823 0.70115 0.553676 0.9859899 0 2.454115e-14 FALSE 8.18411e-06 ENSE00001749136_023 ENSE00001749136 023 4 89827492 89827661 - 38 84 48 T A 89827598 1009 64 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGTACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 88906446 88906447 88906447 exon 16 0.1904762 GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGTACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC mutant NA NA NA NA NA 29 20 0.991162 1 0.995581 0.9651257 0.9479689 0.9629062 0.9961635 NA NA 0.02825582 0.003836514 0.9565473 0.9795348 NA 0.01604616 NA FALSE NA 0.206 1.092 . missense_variant MODERATE FAM13A HGNC 19367 ENST00000511976 5/18 1 deleterious_low_confidence(0.01) unknown(0) NA TTC T,A 8.236e-06 4:88906447 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003568754 missense_variant 2.32783 0.9017 0.14644 0.553676 0.9435643 0 2.454115e-14 FALSE 3.30055e-05 ENSE00001749136_030 ENSE00001749136 030 4 89827492 89827661 - 38 84 48 A G 89827645 1016 17 GGTAAGTGTTCTTTAACCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 88906493 88906494 88906494 upstr_intron -32 -0.6458333 GGTAAGTGTTCTTTAACCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC mutant NA NA NA NA NA 497 20 0.9927802 1 0.9963901 0.9651257 0.9479689 0.9629062 0.9961635 NA NA 0.02987399 0.003836514 0.9565473 0.9795348 NA 0.01685525 NA FALSE NA 0.006 1.362 . intron_variant MODIFIER FAM13A HGNC 19367 ENST00000511976 4/17 1 NA GAT A,G 8.237e-06 4:88906494 FAM13A HGNC Symbol protein_coding 385443 ENSG00000138640 ENSE00003568754 intron_variant 0.304919 0.29589 0.08853 0.061011 0.8173422 0.0436289 2.454115e-14 FALSE 1.43265e-05 ENSE00001749136_BRK ENSE00001749136 BRK 4 89827492 89827661 - 38 84 48 A,G; T,T NA NA NA GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTTTGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGCCAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC 88906340 88906510 NA NA NA NA NA NA GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTTTGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGCCAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC GGTAAGTGTTCTTTAATCTCTAATGTTTCCTTTATACTTCTTTTGTAGGAGGTCTATTATAAGAACTCCCTGCCCATCCTTTTAACAAGAGGCTTAGAAAGAGACATGCCAAAACCACCTCCAAAAACCAAGGTAAACTATGTTTTCTCTGTAGGCGACCATGTGAAATC control NA NA NA NA NA 275 812 0 0.00839847 0.004199235 0.9651257 0.9479689 0.9629062 0.9961635 NA NA -0.9629062 -0.987765 0.9565473 0.9795348 NA -0.9753356 NA TRUE NA NA NA NA NA NA FAM13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM13A NA NA NA ENSG00000138640 ENSE00003568754 NA NA NA NA NA NA NA 2.454115e-14 FALSE NA ENSE00001750274_000 ENSE00001750274 000 6 31609263 31609432 - 53 54 63 NA NA NA NA NA GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG 31641485 31641655 NA NA NA NA NA NA GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG natural 42 85 0.9929248 0.9883569 0.9906408 947 1440 0.9942412 0.9986372 0.9964392 0.9929248 0.9883569 0.9942412 0.9986372 0 0 0 0 0.9906408 0.9964392 0 0 0 FALSE FALSE NA NA NA NA NA BAG6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BAG6 NA NA NA ENSG00000204463 ENSE00001750274 NA NA NA NA NA NA NA 0.9999879 TRUE NA ENSE00001750274_001 ENSE00001750274 001 6 31609263 31609432 - 53 54 63 G A 31609278 631 155 GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTTTGGTCAAGGCAGCTG 31641485 31641655 31641500 31641501 31641501 downstr_intron 38 1.730769 GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTTTGGTCAAGGCAGCTG GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG mutant NA NA NA NA NA 68 54 0.9845079 1 0.9922539 0.9929248 0.9883569 0.9942412 0.9986372 NA NA -0.009733299 0.001362777 0.9906408 0.9964392 NA -0.004185261 NA FALSE NA 0 -0.029 . intron_variant MODIFIER BAG6 HGNC 13919 ENST00000375976 17/24 rs376858587 1 NA A:0 A:0.0001 AGA G,A 3.295e-05 6:31641501 BAG6 HGNC Symbol protein_coding 13677 ENSG00000204463 ENSE00001750274 non_coding_transcript_exon_variant -0.350155 0.14746 0.01277 0.256867 0.6494307 0.0481801 0.9999879 TRUE 3.65556e-05 ENSE00001750274_017 ENSE00001750274 017 6 31609263 31609432 - 53 54 63 G A 31609347 647 86 GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCATGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG 31641485 31641655 31641569 31641570 31641570 exon 23 0.4259259 GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCATGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG mutant NA NA NA NA NA 72 543 1 0.9935376 0.9967688 0.9929248 0.9883569 0.9942412 0.9986372 NA NA 0.005758824 -0.005099623 0.9906408 0.9964392 NA 0.0003296005 NA FALSE NA 0.995 2.388 . missense_variant MODERATE BAG6 HGNC 13919 ENST00000375976 17/25 1 deleterious(0.03) possibly_damaging(0.489) NA CGT G,A 2.471e-05 6:31641570 BAG6 HGNC Symbol protein_coding 13677 ENSG00000204463 ENSE00001750274 missense_variant 3.682172 0.9458 0.87506 0.706548 0.9985814 0 0.9999879 TRUE 2.03044e-05 ENSE00001750274_018 ENSE00001750274 018 6 31609263 31609432 - 53 54 63 C T 31609352 648 81 GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTAATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG 31641485 31641655 31641574 31641575 31641575 exon 18 0.3333333 GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTAATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG mutant NA NA NA NA NA 95 68 0.9900626 1 0.9950313 0.9929248 0.9883569 0.9942412 0.9986372 NA NA -0.004178582 0.001362777 0.9906408 0.9964392 NA -0.001407902 NA FALSE NA 0.995 0.691 . synonymous_variant LOW BAG6 HGNC 13919 ENST00000375976 17/25 1 NA TCA C,T 8.236e-06 6:31641575 BAG6 HGNC Symbol protein_coding 13677 ENSG00000204463 ENSE00001750274 synonymous_variant 1.170067 0.98033 0.93549 0.706548 0.8406184 0 0.9999879 TRUE 4.06081e-06 ENSE00001750274_BRK ENSE00001750274 BRK 6 31609263 31609432 - 53 54 63 A,G; T,T NA NA NA GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACTTATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTCCGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG 31641485 31641655 NA NA NA NA NA NA GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACTTATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTCCGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG GTCGAGGTGGAAGTCTTGGGAGGACTGAGGCTTTGAACTAAACCTGTTCTGTTTCCTCCACAGATGGCAACCCACACATTGATCACGGGGCTAGAAGAGTATGTGCGGGAGAGTTTTGTGAGTAACCCTTCTCTATTCCTTTCCTCTCCTGGGTCTGGTCAAGGCAGCTG control 159 65 0 0 0 NA NA NA NA NA 0.9929248 0.9883569 0.9942412 0.9986372 -0.9929248 -0.9883569 NA NA 0.9906408 0.9964392 -0.9906408 NA NA NA TRUE NA NA NA NA NA BAG6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BAG6 NA NA NA ENSG00000204463 ENSE00001750274 NA NA NA NA NA NA NA 0.9999879 TRUE NA ENSE00001750327_000 ENSE00001750327 000 7 23757059 23757228 + 41 99 30 NA NA NA NA NA TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 NA NA NA NA NA NA TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC natural 239 534 0.8565665 0.8382254 0.8473959 18459 10878 0.8373525 0.8865114 0.8619319 0.8565665 0.8382254 0.8373525 0.8865114 0 0 0 0 0.8473959 0.8619319 0 0 0 FALSE FALSE NA NA NA NA NA STK31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK31 NA NA NA ENSG00000196335 ENSE00003677363 NA NA NA NA NA NA NA 0.2333153 FALSE NA ENSE00001750327_001 ENSE00001750327 001 7 23757059 23757228 + 41 99 30 G C 23757071 702 13 TAATATTTTACTCTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717451 23717452 23717452 upstr_intron -29 -0.6829268 TAATATTTTACTCTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 298 1813 0.7540858 0.9193927 0.8367393 0.8565665 0.8382254 0.8373525 0.8865114 NA NA -0.08326675 0.03288137 0.8473959 0.8619319 NA -0.02519269 NA FALSE NA 0.382 1.362 . intron_variant MODIFIER STK31 HGNC 11407 ENST00000456014 3/6 1 NA TGT G,C 8.278e-06 7:23717452 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 intron_variant 0.080579 0.25949 0.34422 0.074636 0.4787812 0.637679 0.2333153 FALSE 9.54308e-06 ENSE00001750327_002 ENSE00001750327 002 7 23757059 23757228 + 41 99 30 A G 23757073 703 15 TAATATTTTACTGTGTCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717453 23717454 23717454 upstr_intron -27 -0.6341463 TAATATTTTACTGTGTCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 2320 1464 0.9718311 0.9533155 0.9625733 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.1344786 0.06680412 0.8473959 0.8619319 NA 0.1006413 NA FALSE NA 0.393 0.234 . intron_variant MODIFIER STK31 HGNC 11407 ENST00000456014 3/6 1 NA TAT A,G 1.653e-05 7:23717454 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 intron_variant -0.252817 0.1429 0.14061 0.074636 0.5805788 0.0666038 0.2333153 FALSE 1.37992e-05 ENSE00001750327_003 ENSE00001750327 003 7 23757059 23757228 + 41 99 30 C T 23757075 704 17 TAATATTTTACTGTATTTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717455 23717456 23717456 upstr_intron -25 -0.5853659 TAATATTTTACTGTATTTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1486 766 0.8252736 0.6482806 0.7367771 0.8565665 0.8382254 0.8373525 0.8865114 NA NA -0.01207893 -0.2382308 0.8473959 0.8619319 NA -0.1251549 NA FALSE NA 0 -1.933 . intron_variant MODIFIER STK31 HGNC 11407 ENST00000456014 3/6 1 NA TCT C,T 5.783e-05 7:23717456 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 intron_variant 0.404603 0.14798 0.0047 0.074636 0.695382 0.0666038 0.2333153 FALSE 6.36115e-05 ENSE00001750327_005 ENSE00001750327 005 7 23757059 23757228 + 41 99 30 G A 23757101 706 43 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAATATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717481 23717482 23717482 exon 2 0.02020202 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAATATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 224 173 0.9526862 0.9295545 0.9411204 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.1153337 0.04304315 0.8473959 0.8619319 NA 0.07918841 NA FALSE NA 0.979 0.452 . missense_variant&splice_region_variant MODERATE STK31 HGNC 11407 ENST00000456014 4/7 rs547825144 1 tolerated(1) benign(0.006) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGT G,A 8.238e-06 7:23717482 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant -0.324607 0.95202 0.42128 0.487112 0.654734 0 0.2333153 FALSE 8.26296e-06 ENSE00001750327_006 ENSE00001750327 006 7 23757059 23757228 + 41 99 30 T C 23757104 707 46 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTACCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717484 23717485 23717485 exon 5 0.05050505 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTACCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1853 1118 0.9820854 0.9925897 0.9873376 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.1447329 0.1060783 0.8473959 0.8619319 NA 0.1254056 NA FALSE NA 0.963 3.149 . missense_variant MODERATE STK31 HGNC 11407 ENST00000456014 4/7 1 tolerated(0.13) benign(0.092) NA ATC T,C 8.237e-06 7:23717485 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant 3.112216 0.96298 0.78601 0.487112 0.9921575 0 0.2333153 FALSE NA ENSE00001750327_007 ENSE00001750327 007 7 23757059 23757228 + 41 99 30 A G 23757107 708 49 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAGTAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717487 23717488 23717488 exon 8 0.08080808 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAGTAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 400 1341 0.8227214 0.8545553 0.8386383 0.8565665 0.8382254 0.8373525 0.8865114 NA NA -0.01463113 -0.03195611 0.8473959 0.8619319 NA -0.02329362 NA FALSE NA 0 -1.402 rs113382775 missense_variant MODERATE STK31 HGNC 11407 ENST00000456014 4/7 rs113382775 1 tolerated(1) benign(0.002) NA G:0.0014 G:0.0001 AAT A,G 0.0002554 7:23717488 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant -2.307267 0.33351 0.00834 0.487112 0.6027696 0 0.2333153 FALSE 0.000184743 ENSE00001750327_008 ENSE00001750327 008 7 23757059 23757228 + 41 99 30 G A 23757110 709 52 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAAAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717490 23717491 23717491 exon 11 0.1111111 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAAAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1005 284 0.9468586 0.8688222 0.9078404 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.109506 -0.01768913 0.8473959 0.8619319 NA 0.04590846 NA FALSE NA 1 1.714 . missense_variant MODERATE STK31 HGNC 11407 ENST00000456014 4/7 1 tolerated(0.36) benign(0.049) NA AGA G,A 8.237e-06 7:23717491 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant 0.972562 0.96554 0.71338 0.487112 0.7307033 0 0.2333153 FALSE NA ENSE00001750327_011 ENSE00001750327 011 7 23757059 23757228 + 41 99 30 G A 23757151 712 93 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAATTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717531 23717532 23717532 exon -48 0.5252525 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAATTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 63 257 0.02523873 0.004483917 0.01486132 0.8565665 0.8382254 0.8373525 0.8865114 NA NA -0.8121138 -0.8820274 0.8473959 0.8619319 NA -0.8470706 NA TRUE NA 1 3.173 . missense_variant MODERATE STK31 HGNC 11407 ENST00000456014 4/7 1 tolerated(0.6) benign(0.02) NA AGT G,A 6.589e-05 7:23717532 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant 0.523735 0.96626 0.80138 0.553676 0.7899305 0 0.2333153 FALSE 3.66557e-05 ENSE00001750327_012 ENSE00001750327 012 7 23757059 23757228 + 41 99 30 C T 23757156 713 98 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGTCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717536 23717537 23717537 exon -43 0.5757576 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGTCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1602 998 0.9355838 0.9751129 0.9553483 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.09823126 0.0886015 0.8473959 0.8619319 NA 0.09341638 NA FALSE NA 1 1.131 . synonymous_variant LOW STK31 HGNC 11407 ENST00000456014 4/7 1 NA GCC C,T 0.0003295 7:23717537 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 splice_region_variant 0.535253 0.91989 0.04353 0.553676 0.4730216 0 0.2333153 FALSE 0.000277338 ENSE00001750327_013 ENSE00001750327 013 7 23757059 23757228 + 41 99 30 C T 23757158 714 100 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCTCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717538 23717539 23717539 exon -41 0.5959596 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCTCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 2888 725 0.9650862 0.9539228 0.9595045 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.1277336 0.06741145 0.8473959 0.8619319 NA 0.09757255 NA FALSE NA 0.997 4.542 . missense_variant MODERATE STK31 HGNC 11407 ENST00000456014 4/7 1 deleterious(0) probably_damaging(0.999) NA CCC C,T 8.237e-06 7:23717539 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant 5.535925 0.98589 0.92428 0.553676 0.998096 0 0.2333153 FALSE 4.07528e-06 ENSE00001750327_014 ENSE00001750327 014 7 23757059 23757228 + 41 99 30 G C 23757162 715 104 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCACGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717542 23717543 23717543 exon -37 0.6363636 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCACGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1454 1494 0.8755799 0.9885088 0.9320443 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.03822733 0.1019974 0.8473959 0.8619319 NA 0.07011239 NA FALSE NA 0.999 1.356 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:23717543 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 splice_acceptor_variant 0.107085 0.9535 0.55245 0.553676 0.6499374 0 0.2333153 FALSE 0.281594 ENSE00001750327_015 ENSE00001750327 015 7 23757059 23757228 + 41 99 30 G T 23757162 716 104 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCATGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717542 23717543 23717543 exon -37 0.6363636 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCATGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 770 1419 0.9489943 0.9662609 0.9576276 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.1116418 0.07974951 0.8473959 0.8619319 NA 0.09569565 NA FALSE NA 0.999 1.356 NA NA NA STK31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK31 NA NA NA ENSG00000196335 ENSE00003677363 splice_acceptor_variant 0.230924 0.9288 0.20064 0.553676 0.6469843 0 0.2333153 FALSE 4.08587e-06 ENSE00001750327_017 ENSE00001750327 017 7 23757059 23757228 + 41 99 30 G A 23757172 718 114 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAATTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717552 23717553 23717553 exon -27 0.7373737 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAATTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1798 1225 0.8346747 0.9961801 0.9154274 0.8565665 0.8382254 0.8373525 0.8865114 NA NA -0.002677791 0.1096687 0.8473959 0.8619319 NA 0.05349548 NA FALSE NA 1 2.402 . missense_variant MODERATE STK31 HGNC 11407 ENST00000456014 4/7 1 tolerated(0.17) benign(0.068) NA AGT G,A 8.237e-06 7:23717553 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant 1.739925 0.97644 0.81686 0.553676 0.9912492 0 0.2333153 FALSE 4.0837e-06 ENSE00001750327_018 ENSE00001750327 018 7 23757059 23757228 + 41 99 30 A T 23757181 719 123 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGTATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717561 23717562 23717562 exon -18 0.8282828 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGTATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1421 814 0.800947 0.8001774 0.8005622 0.8565665 0.8382254 0.8373525 0.8865114 NA NA -0.03640556 -0.08633398 0.8473959 0.8619319 NA -0.06136977 NA FALSE NA 1 5.433 . missense_variant MODERATE STK31 HGNC 11407 ENST00000456014 4/7 rs200349502 1 deleterious(0.01) possibly_damaging(0.722) NA GAA A,T 6.59e-05 7:23717562 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant 4.035421 0.98561 0.95031 0.553676 0.9921783 0 0.2333153 FALSE 6.14472e-05 ENSE00001750327_019 ENSE00001750327 019 7 23757059 23757228 + 41 99 30 C G 23757195 720 137 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAAGAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717575 23717576 23717576 exon -4 0.969697 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAAGAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 711 1200 0.8560234 0.9039784 0.8800009 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.01867086 0.01746699 0.8473959 0.8619319 NA 0.01806893 NA FALSE NA 0.998 0.358 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:23717576 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 missense_variant -0.235869 0.92225 0.13812 0.553676 0.6949487 0 0.2333153 FALSE 4.13408e-06 ENSE00001750327_020 ENSE00001750327 020 7 23757059 23757228 + 41 99 30 C A 23757195 721 137 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAAAAAGGTGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 23717575 23717576 23717576 exon -4 0.969697 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAAAAAGGTGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1655 416 0.9463614 0.9298481 0.9381048 0.8565665 0.8382254 0.8373525 0.8865114 NA NA 0.1090089 0.04333673 0.8473959 0.8619319 NA 0.07617282 NA FALSE NA 0.998 0.358 NA NA NA STK31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK31 NA NA NA ENSG00000196335 ENSE00003677363 missense_variant 0.222489 0.94998 0.37963 0.553676 0.6194898 0 0.2333153 FALSE 4.13408e-06 ENSE00001750327_021 ENSE00001750327 021 7 23757059 23757228 + 41 99 30 T A 23757213 722 155 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTAGAATATAATTATTTC 23717439 23717609 23717593 23717594 23717594 downstr_intron 15 1.517241 TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTAGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC mutant NA NA NA NA NA 1411 2148 0.8275518 0.7563269 0.7919394 0.8565665 0.8382254 0.8373525 0.8865114 NA NA -0.009800752 -0.1301844 0.8473959 0.8619319 NA -0.06999259 NA FALSE NA 0.007 0.809 . intron_variant MODIFIER STK31 HGNC 11407 ENST00000456014 4/6 1 NA TTG T,A 1.648e-05 7:23717594 STK31 HGNC Symbol protein_coding 122346 ENSG00000196335 ENSE00003677363 intron_variant 1.745337 0.28024 0.31641 0.053691 0.8196387 0.0654977 0.2333153 FALSE 3.88635e-05 ENSE00001750327_BRK ENSE00001750327 BRK 7 23757059 23757228 + 41 99 30 A,G; T,T NA NA NA TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTTTAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGCCGAGCCATATTCTTGAATATAATTATTTC 23717439 23717609 NA NA NA NA NA NA TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTTTAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGCCGAGCCATATTCTTGAATATAATTATTTC TAATATTTTACTGTATCTTATACTATATCTAATCTTTCTAGAGTATCAATAGAAATAAGGATATCATGAAGATTGGTTGCTCACTGTCTGAAGTTTGCCCCCAGGCCAGTTCAGTTTTGGGGAATCTTGACCCAAACAAGGTGAGCCATATTCTTGAATATAATTATTTC control 43 135 0.03026652 0.03412998 0.03219825 70 224 0 0.02199277 0.01099639 0.8565665 0.8382254 0.8373525 0.8865114 -0.8262999 -0.8040954 -0.8373525 -0.8645186 0.8473959 0.8619319 -0.8151977 -0.8509356 0.0357379 TRUE TRUE NA NA NA NA NA STK31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK31 NA NA NA ENSG00000196335 ENSE00003677363 NA NA NA NA NA NA NA 0.2333153 FALSE NA ENSE00001750412_000 ENSE00001750412 000 3 47061211 47061380 - 39 81 50 NA NA NA NA NA AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 NA NA NA NA NA NA TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT natural 94 83 0.9811361 0.9862055 0.9836708 2194 5176 0.9905503 0.9793421 0.9849462 0.9811361 0.9862055 0.9905503 0.9793421 0 0 0 0 0.9836708 0.9849462 0 0 0 FALSE FALSE NA NA NA NA NA SETD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SETD2 NA NA NA ENSG00000181555 ENSE00003605282 NA NA NA NA NA NA NA 0.9999929 TRUE NA ENSE00001750412_001 ENSE00001750412 001 3 47061211 47061380 - 39 81 50 G C 47061228 801 153 AGCCTGAGGAGCTTAGTCCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019737 47019738 47019738 downstr_intron 22 1.578947 TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGGACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 128 305 1 0.9993737 0.9996868 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009449689 0.02003153 0.9836708 0.9849462 NA 0.01474061 NA FALSE NA 0 -0.228 . intron_variant MODIFIER SETD2 HGNC 18420 ENST00000409792 19/20 1 NA TGC G,C 8.236e-06 3:47019738 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 intron_variant -0.010933 0.18713 0.12294 0.298561 0.5635968 0.121998 0.9999929 TRUE 4.06289e-06 ENSE00001750412_002 ENSE00001750412 002 3 47061211 47061380 - 39 81 50 T C 47061233 802 148 AGCCTGAGGAGCTTAGTGCTTACATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019742 47019743 47019743 downstr_intron 17 1.447368 TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATGTAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 1198 29 0.9934775 1 0.9967388 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.002927204 0.02065786 0.9836708 0.9849462 NA 0.01179253 NA FALSE NA 0 -0.454 . intron_variant MODIFIER SETD2 HGNC 18420 ENST00000409792 19/20 1 NA ATA T,C 8.236e-06 3:47019743 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 intron_variant -0.298343 0.09378 0.00165 0.298561 0.5398982 0.121998 0.9999929 TRUE 4.0625e-06 ENSE00001750412_003 ENSE00001750412 003 3 47061211 47061380 - 39 81 50 T G 47061265 803 116 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACGTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019774 47019775 47019775 exon -16 0.8148148 TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGACGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 475 424 1 0.9953439 0.9976719 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009449689 0.01600173 0.9836708 0.9849462 NA 0.01272571 NA FALSE NA 1 1.375 . missense_variant MODERATE SETD2 HGNC 18420 ENST00000409792 19/21 1 tolerated(0.11) possibly_damaging(0.817) NA CTT T,G 8.236e-06 3:47019775 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 missense_variant 5.114001 0.98449 0.95783 0.706548 0.9926022 0 0.9999929 TRUE 8.12295e-06 ENSE00001750412_004 ENSE00001750412 004 3 47061211 47061380 - 39 81 50 C T 47061277 804 104 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTTTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019786 47019787 47019787 exon -28 0.6666667 TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAAAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 156 585 1 0.998622 0.999311 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009449689 0.01927991 0.9836708 0.9849462 NA 0.0143648 NA FALSE NA 1 1.031 . synonymous_variant LOW SETD2 HGNC 18420 ENST00000409792 19/21 1 NA TCT C,T 2.471e-05 3:47019787 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 synonymous_variant 2.076697 0.96738 0.86811 0.706548 0.5518281 0 0.9999929 TRUE 3.65524e-05 ENSE00001750412_006 ENSE00001750412 006 3 47061211 47061380 - 39 81 50 T C 47061307 806 74 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCCGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019816 47019817 47019817 exon 24 0.2962963 TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCGGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 400 23 1 0.998328 0.999164 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009449689 0.01898586 0.9836708 0.9849462 NA 0.01421777 NA FALSE NA 0.024 -0.753 . synonymous_variant LOW SETD2 HGNC 18420 ENST00000409792 19/21 1 NA CTG T,C 3.295e-05 3:47019817 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 synonymous_variant 0.876791 0.96061 0.32325 0.722319 0.7094317 0 0.9999929 TRUE 4.87365e-05 ENSE00001750412_007 ENSE00001750412 007 3 47061211 47061380 - 39 81 50 C T 47061325 807 56 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTTGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019834 47019835 47019835 exon 6 0.07407407 TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCAAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 43 73 0.9768491 1 0.9884246 0.9811361 0.9862055 0.9905503 0.9793421 NA NA -0.01370119 0.02065786 0.9836708 0.9849462 NA 0.003478335 NA FALSE NA 0.086 -0.595 . synonymous_variant LOW SETD2 HGNC 18420 ENST00000409792 19/21 rs368025625&COSM1423513&COSM1423512 1 NA T:0 T:0.0001 TCG C,T 3.295e-05 3:47019835 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 synonymous_variant 2.024059 0.3403 0.02163 0.722319 0.3959232 0 0.9999929 TRUE 2.03118e-05 ENSE00001750412_008 ENSE00001750412 008 3 47061211 47061380 - 39 81 50 G A 47061326 808 55 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCAAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019835 47019836 47019836 exon 5 0.0617284 TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTTGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 177 538 1 0.9843063 0.9921531 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009449689 0.004964127 0.9836708 0.9849462 NA 0.007206908 NA FALSE NA 1 8.499 . missense_variant MODERATE SETD2 HGNC 18420 ENST00000409792 19/21 COSM1045427&COSM1045426 1 deleterious(0) probably_damaging(0.99) NA CGA G,A 4.118e-05 3:47019836 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 missense_variant 6.652798 0.95467 0.99395 0.722319 0.9962107 0 0.9999929 TRUE 2.43748e-05 ENSE00001750412_009 ENSE00001750412 009 3 47061211 47061380 - 39 81 50 A C 47061334 809 47 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTACAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019843 47019844 47019844 upstr_intron -4 -0.06 TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTGTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 213 508 1 0.989627 0.9948135 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009449689 0.01028488 0.9836708 0.9849462 NA 0.009867286 NA FALSE NA 0.971 0.988 . splice_region_variant&intron_variant LOW SETD2 HGNC 18420 ENST00000409792 18/20 1 NA AAA A,C 4.118e-05 3:47019844 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 splice_region_variant 1.150138 0.96663 0.81433 0.062308 0.7532271 0.224715 0.9999929 TRUE 4.06217e-05 ENSE00001750412_010 ENSE00001750412 010 3 47061211 47061380 - 39 81 50 A G 47061349 810 32 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAGCACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019858 47019859 47019859 upstr_intron -19 -0.36 TAAACTGACTTCTCATGCCAGCACCACTGTGCTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 1957 131 0.9997263 0.985007 0.9923666 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009175994 0.005664856 0.9836708 0.9849462 NA 0.007420425 NA FALSE NA 0.994 3.698 . intron_variant MODIFIER SETD2 HGNC 18420 ENST00000409792 18/20 1 NA AAC A,G 8.236e-06 3:47019859 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 intron_variant 0.876949 0.96429 0.7283 0.062308 0.7162731 0.278822 0.9999929 TRUE 8.12526e-06 ENSE00001750412_011 ENSE00001750412 011 3 47061211 47061380 - 39 81 50 C T 47061352 811 29 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACATAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019861 47019862 47019862 upstr_intron -22 -0.42 TAAACTGACTTCTCATGCCAGCACCACTATGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 445 699 0.9935367 0.9981304 0.9958335 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.002986352 0.01878827 0.9836708 0.9849462 NA 0.01088731 NA FALSE NA 0 -1.329 . intron_variant MODIFIER SETD2 HGNC 18420 ENST00000409792 18/20 1 NA ACA C,T 6.589e-05 3:47019862 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 intron_variant 0.471402 0.63875 0.06063 0.062308 0.6599952 0.108955 0.9999929 TRUE 3.65675e-05 ENSE00001750412_012 ENSE00001750412 012 3 47061211 47061380 - 39 81 50 G A 47061356 812 25 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTAGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019865 47019866 47019866 upstr_intron -26 -0.5 TAAACTGACTTCTCATGCCAGCACTACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 593 59 1 0.9960335 0.9980167 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009449689 0.01669134 0.9836708 0.9849462 NA 0.01307052 NA FALSE NA 0 -0.077 . intron_variant MODIFIER SETD2 HGNC 18420 ENST00000409792 18/20 1 NA TGG G,A 1.647e-05 3:47019866 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 intron_variant 0.177625 0.12002 0.00396 0.062308 0.3677489 0.108955 0.9999929 TRUE 1.62559e-05 ENSE00001750412_013 ENSE00001750412 013 3 47061211 47061380 - 39 81 50 G A 47061357 813 24 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGATGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 47019866 47019867 47019867 upstr_intron -27 -0.52 TAAACTGACTTCTCATGCCAGCATCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 613 445 1 0.9998288 0.9999144 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.009449689 0.02048664 0.9836708 0.9849462 NA 0.01496816 NA FALSE NA 0 0.043 . intron_variant MODIFIER SETD2 HGNC 18420 ENST00000409792 18/20 1 NA GGT G,A 8.236e-06 3:47019867 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 intron_variant 0.218708 0.19327 0.03237 0.062308 0.31569 0.108955 0.9999929 TRUE 4.06418e-06 ENSE00001750412_014 ENSE00001750412 014 3 47061211 47061380 - 39 81 50 A C 47061365 814 16 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCCTGAGAAGTCAGTTTA 47019720 47019890 47019874 47019875 47019875 upstr_intron -35 -0.68 TAAACTGACTTCTCAGGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 1201 229 0.9990712 0.948914 0.9739926 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.00852088 -0.03042818 0.9836708 0.9849462 NA -0.01095365 NA FALSE NA 0.001 0.797 . intron_variant MODIFIER SETD2 HGNC 18420 ENST00000409792 18/20 rs559843303 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CAT A,C 1.647e-05 3:47019875 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 intron_variant 0.157198 0.28654 0.12367 0.062308 0.6436267 0.108955 0.9999929 TRUE 8.13147e-06 ENSE00001750412_015 ENSE00001750412 015 3 47061211 47061380 - 39 81 50 G A 47061367 815 14 AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTACCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCCTAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATAAGAAGTCAGTTTA 47019720 47019890 47019876 47019877 47019877 upstr_intron -37 -0.72 TAAACTGACTTCTTATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT mutant NA NA NA NA NA 588 118 0.9948925 0.9678632 0.9813779 0.9811361 0.9862055 0.9905503 0.9793421 NA NA 0.004342236 -0.01147898 0.9836708 0.9849462 NA -0.00356837 NA FALSE NA 0 -0.19 . intron_variant MODIFIER SETD2 HGNC 18420 ENST00000409792 18/20 rs571829295 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGA G,A 3.295e-05 3:47019877 SETD2 HGNC Symbol protein_coding 147538 ENSG00000181555 ENSE00003605282 intron_variant -0.08047 0.17062 0.05079 0.062308 0.6452358 0.108955 0.9999929 TRUE 1.22006e-05 ENSE00001750412_BRK ENSE00001750412 BRK 3 47061211 47061380 - 39 81 50 A,G; T,T NA NA NA AGCCTGAGGAGCTTAGTGCTTATATCCACCAAACCTTGGCTCTTTTCTGAATACTTCTTTGCTTTTCTTTGCTAGTTCACTGGAGGTGTCTGCTTCTGCTGTCTTGGGCTTTTTCGAGGCAAAAAAATGGAGGAGAAAACACAGTGGTGCTGGCATGAGAAGTCAGTTTA 47019720 47019890 NA NA NA NA NA NA TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTTTGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGCCAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT TAAACTGACTTCTCATGCCAGCACCACTGTGTTTTCTCCTCCATTTTTAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGGTAAGGTTTGGTGGATATAAGCACTAAGCTCCTCAGGCT control 190 144 0.08691274 0 0.04345637 4003 161 0.03860439 0.001993138 0.02029876 0.9811361 0.9862055 0.9905503 0.9793421 -0.8942233 -0.9862055 -0.9519459 -0.977349 0.9836708 0.9849462 -0.9402144 -0.9646475 0.02443303 TRUE TRUE NA NA NA NA NA SETD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SETD2 NA NA NA ENSG00000181555 ENSE00003605282 NA NA NA NA NA NA NA 0.9999929 TRUE NA ENSE00001750553_000 ENSE00001750553 000 6 33134794 33134963 - 53 54 63 NA NA NA NA NA AGGGGCGAGGGTGATGGGAGAGACACCTGGCCACGTGTCTGTCTGTCACTCACCTTCTCTCCCTTGGCTCCAGCATCGCCCCGGAGACCAGGCAGCCCTGGGGGTCCCTGTGGAGAGATGGGAAGTCATTCTCTTAAGGGAGAGGTGGGACCAAGTTCTCCCCAACAGCC 33167016 33167186 NA NA NA NA NA NA GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT natural 35 37 0.9936152 0.9931626 0.9933889 1004 700 0.9911957 0.9913725 0.9912841 0.9936152 0.9931626 0.9911957 0.9913725 0 0 0 0 0.9933889 0.9912841 0 0 0 FALSE FALSE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001750553 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001750553_003 ENSE00001750553 003 6 33134794 33134963 - 53 54 63 C A 33134819 777 145 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGTTGTCTCTCCCATCACCCTCGCCCCT 33167016 33167186 33167041 33167042 33167042 downstr_intron 28 1.538462 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGTTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 51 44 0.95 1 0.975 0.9936152 0.9931626 0.9911957 0.9913725 NA NA -0.04119574 0.008627526 0.9933889 0.9912841 NA -0.01628411 NA FALSE NA 0 -0.026 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 57/64 rs370846666 1 NA A:0.0002 A:0 ACC C,A 8.237e-06 6:33167042 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant 1.162755 0.14886 0.05992 0.078448 0.88929 0.155478 0.9999993 TRUE 8.12691e-06 ENSE00001750553_005 ENSE00001750553 005 6 33134794 33134963 - 53 54 63 C T 33134825 779 139 AGGGGCGAGGGTGATGGGAGAGACACCTGGCTACGTGTCTGTCTGTCACTCACCTTCTCTCCCTTGGCTCCAGCATCGCCCCGGAGACCAGGCAGCCCTGGGGGTCCCTGTGGAGAGATGGGAAGTCATTCTCTTAAGGGAGAGGTGGGACCAAGTTCTCCCCAACAGCC 33167016 33167186 33167047 33167048 33167048 downstr_intron 22 1.423077 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTAGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 55 53 1 1 1 0.9936152 0.9931626 0.9911957 0.9913725 NA NA 0.008804256 0.008627526 0.9933889 0.9912841 NA 0.008715891 NA FALSE NA 0 1.188 NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:33167048 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant 1.202813 0.11394 0.0264 0.078448 0.8208076 0.155478 0.9999993 TRUE 4.06286e-06 ENSE00001750553_006 ENSE00001750553 006 6 33134794 33134963 - 53 54 63 G A 33134828 780 136 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACATGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT 33167016 33167186 33167050 33167051 33167051 downstr_intron 19 1.365385 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACATGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 424 25 0.9969517 0.9936205 0.9952861 0.9936152 0.9931626 0.9911957 0.9913725 NA NA 0.005755977 0.002248068 0.9933889 0.9912841 NA 0.004002023 NA FALSE NA 0 -1.999 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 57/64 1 NA CGT G,A 0.0001236 6:33167051 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant 0.620005 0.09643 0.00548 0.078448 0.7926754 0.155478 0.9999993 TRUE 0.000158446 ENSE00001750553_007 ENSE00001750553 007 6 33134794 33134963 - 53 54 63 G A 33134830 781 134 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGATACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT 33167016 33167186 33167052 33167053 33167053 downstr_intron 17 1.326923 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGATACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 140 584 1 1 1 0.9936152 0.9931626 0.9911957 0.9913725 NA NA 0.008804256 0.008627526 0.9933889 0.9912841 NA 0.008715891 NA FALSE NA 0 -2.078 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 57/64 1 NA TGT G,A 8.237e-06 6:33167053 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant 0.788963 0.18839 0.00296 0.078448 0.7608331 0.155478 0.9999993 TRUE 4.0627e-06 ENSE00001750553_018 ENSE00001750553 018 6 33134794 33134963 - 53 54 63 T C 33134912 792 52 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCGTCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT 33167016 33167186 33167134 33167135 33167135 upstr_intron -12 -0.1746032 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCGTCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 54 364 1 1 1 0.9936152 0.9931626 0.9911957 0.9913725 NA NA 0.008804256 0.008627526 0.9933889 0.9912841 NA 0.008715891 NA FALSE NA 0 -3.265 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 56/64 1 NA ATG T,C 8.236e-06 6:33167135 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant 0.070393 0.14925 0.00431 0.053691 0.5967784 0.385346 0.9999993 TRUE 4.0624e-06 ENSE00001750553_020 ENSE00001750553 020 6 33134794 33134963 - 53 54 63 T C 33134919 794 45 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGGCTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT 33167016 33167186 33167141 33167142 33167142 upstr_intron -19 -0.2857143 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGGCTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 17 299 0.9535288 0.9354594 0.9444941 0.9936152 0.9931626 0.9911957 0.9913725 NA NA -0.03766692 -0.05591303 0.9933889 0.9912841 NA -0.04678998 NA FALSE NA 0.57 2.883 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 56/64 1 NA GTC T,C 8.236e-06 6:33167142 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant 0.250734 0.26729 0.11085 0.053691 0.7408872 0.2775 0.9999993 TRUE 4.06217e-06 ENSE00001750553_021 ENSE00001750553 021 6 33134794 33134963 - 53 54 63 T C 33134923 795 41 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGGATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT 33167016 33167186 33167145 33167146 33167146 upstr_intron -23 -0.3492063 GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGGATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 10 151 0.95 0.9857197 0.9678599 0.9936152 0.9931626 0.9911957 0.9913725 NA NA -0.04119574 -0.005652755 0.9933889 0.9912841 NA -0.02342425 NA FALSE NA 0 -0.315 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 56/64 rs367996298 1 NA C:0 C:0.0001 TTC T,C 8.236e-06 6:33167146 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant 0.253853 0.20831 0.05656 0.053691 0.7715463 0.0667028 0.9999993 TRUE 4.06207e-06 ENSE00001750553_022 ENSE00001750553 022 6 33134794 33134963 - 53 54 63 G A 33134942 796 22 GGCTGTTGGGGAGAACTTGGTTCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT 33167016 33167186 33167164 33167165 33167165 upstr_intron -42 -0.6507937 GGCTGTTGGGGAGAACTTGGTTCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 1854 59 1 0.9973099 0.998655 0.9936152 0.9931626 0.9911957 0.9913725 NA NA 0.008804256 0.00593745 0.9933889 0.9912841 NA 0.007370853 NA FALSE NA 0.001 0.991 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 56/64 rs370802070 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 6:33167165 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant 0.443031 0.1498 0.07712 0.078448 0.6833903 0.0610319 0.9999993 TRUE 4.06362e-06 ENSE00001750553_024 ENSE00001750553 024 6 33134794 33134963 - 53 54 63 A G 33134946 798 18 AGGGGCGAGGGTGATGGGAGAGACACCTGGCCACGTGTCTGTCTGTCACTCACCTTCTCTCCCTTGGCTCCAGCATCGCCCCGGAGACCAGGCAGCCCTGGGGGTCCCTGTGGAGAGATGGGAAGTCATTCTCTTAAGGGAGAGGTGGGACCGAGTTCTCCCCAACAGCC 33167016 33167186 33167168 33167169 33167169 upstr_intron -46 -0.7142857 GGCTGTTGGGGAGAACTCGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT mutant NA NA NA NA NA 886 10 0.9993946 1 0.9996973 0.9936152 0.9931626 0.9911957 0.9913725 NA NA 0.008198856 0.008627526 0.9933889 0.9912841 NA 0.008413191 NA FALSE NA 0 -0.539 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 56/64 rs367827251 1 NA G:0.0002 G:0 CAA A,G 4.118e-05 6:33167169 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001750553 intron_variant -0.094337 0.15774 0.00631 0.078448 0.5365015 0.0610319 0.9999993 TRUE 2.03168e-05 ENSE00001750553_BRK ENSE00001750553 BRK 6 33134794 33134963 - 53 54 63 A,G; T,T NA NA NA GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACTTGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGCCGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT 33167016 33167186 NA NA NA NA NA NA GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACTTGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGCCGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT GGCTGTTGGGGAGAACTTGGTCCCACCTCTCCCTTAAGAGAATGACTTCCCATCTCTCCACAGGGACCCCCAGGGCTGCCTGGTCTCCGGGGCGATGCTGGAGCCAAGGGAGAGAAGGTGAGTGACAGACAGACACGTGGCCAGGTGTCTCTCCCATCACCCTCGCCCCT control 12 12 0 0 0 NA NA NA NA NA 0.9936152 0.9931626 0.9911957 0.9913725 -0.9936152 -0.9931626 NA NA 0.9933889 0.9912841 -0.9933889 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001750553 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001750848_000 ENSE00001750848 000 20 62069946 62070115 - 32 96 42 NA NA NA NA NA TGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCA 63438592 63438762 NA NA NA NA NA NA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA natural 20 10 0.06414024 0 0.03207012 447 120 0.7427874 0.8403731 0.7915803 0.06414024 0 0.7427874 0.8403731 0 0 0 0 0.03207012 0.7915803 0 0 0 FALSE FALSE NA NA NA NA NA KCNQ2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCNQ2 NA NA NA ENSG00000075043 ENSE00003709085 NA NA NA NA NA NA NA 0.9993561 TRUE NA ENSE00001750848_001 ENSE00001750848 001 20 62069946 62070115 - 32 96 42 G A 62069959 2011 157 TGTGCTGGTCCCCAGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCA 63438592 63438762 63438605 63438606 63438606 downstr_intron 19 1.612903 TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCTGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA mutant NA NA NA NA NA 12 33 0.8 1 0.9 0.06414024 0 0.7427874 0.8403731 NA NA 0.05721257 0.1596269 0.03207012 0.7915803 NA 0.1084197 NA FALSE NA 0 -2.973 . intron_variant MODIFIER KCNQ2 HGNC 6296 ENST00000359689 7/17 1 NA CGG G,A 1.647e-05 20:63438606 KCNQ2 HGNC Symbol protein_coding 72467 ENSG00000075043 ENSE00003709085 missense_variant -0.647876 0.04893 0.00066 0.078448 0.3242854 0.0889542 0.9993561 TRUE 1.62938e-05 ENSE00001750848_002 ENSE00001750848 002 20 62069946 62070115 - 32 96 42 G A 62069963 2012 153 TGTGCTGGTCCCCGGGGAACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCA 63438592 63438762 63438609 63438610 63438610 downstr_intron 15 1.483871 TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTTCCCCGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA mutant NA NA NA NA NA 513 163 0.7675529 0.8 0.7837764 0.06414024 0 0.7427874 0.8403731 NA NA 0.02476545 -0.04037313 0.03207012 0.7915803 NA -0.007803841 NA FALSE NA 0 -0.669 . intron_variant MODIFIER KCNQ2 HGNC 6296 ENST00000359689 7/17 rs555812884 1 NA GGA G,A 0.0001483 20:63438610 KCNQ2 HGNC Symbol protein_coding 72467 ENSG00000075043 ENSE00003709085 synonymous_variant -0.023547 0.25513 0.01292 0.078448 0.2891261 0.0889542 0.9993561 TRUE 8.54444e-05 ENSE00001750848_006 ENSE00001750848 006 20 62069946 62070115 - 32 96 42 G A 62069981 2016 135 TGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGAATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCA 63438592 63438762 63438627 63438628 63438628 exon -4 0.96875 TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATTCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA mutant NA NA NA NA NA 63 389 0.8 0.8 0.8 0.06414024 0 0.7427874 0.8403731 NA NA 0.05721257 -0.04037313 0.03207012 0.7915803 NA 0.008419719 NA FALSE NA 0.996 0.262 . synonymous_variant LOW KCNQ2 HGNC 6296 ENST00000359689 7/18 1 NA GGA G,A 8.237e-06 20:63438628 KCNQ2 HGNC Symbol protein_coding 72467 ENSG00000075043 ENSE00003709085 synonymous_variant 0.200367 0.96573 0.79064 0.695654 0.7708236 0 0.9993561 TRUE 4.06534e-06 ENSE00001750848_007 ENSE00001750848 007 20 62069946 62070115 - 32 96 42 C A 62069996 2017 120 TGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCAGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCA 63438592 63438762 63438642 63438643 63438643 exon -19 0.8125 TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCTGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA mutant NA NA NA NA NA 201 33 0.9380125 0.8 0.8690062 0.06414024 0 0.7427874 0.8403731 NA NA 0.195225 -0.04037313 0.03207012 0.7915803 NA 0.07742595 NA FALSE NA 0 -2.453 . synonymous_variant LOW KCNQ2 HGNC 6296 ENST00000359689 7/18 COSM379684 1 NA CCG C,A 8.237e-06 20:63438643 KCNQ2 HGNC Symbol protein_coding 72467 ENSG00000075043 ENSE00003709085 synonymous_variant 0.738124 0.11298 0.0153 0.695654 0.1976939 0 0.9993561 TRUE 4.06431e-06 ENSE00001750848_009 ENSE00001750848 009 20 62069946 62070115 - 32 96 42 C T 62070082 2019 34 TGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTTATCAGGGTCAGGTCACACCCCAGGGACCCCCCA 63438592 63438762 63438728 63438729 63438729 upstr_intron -9 -0.1904762 TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATAAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA mutant NA NA NA NA NA 611 953 0.01836862 0.000335677 0.00935215 0.06414024 0 0.7427874 0.8403731 NA NA -0.7244188 -0.8400375 0.03207012 0.7915803 NA -0.7822281 NA TRUE NA 0 0.57 . intron_variant MODIFIER KCNQ2 HGNC 6296 ENST00000359689 6/17 1 NA TCA C,T 8.237e-06 20:63438729 KCNQ2 HGNC Symbol protein_coding 72467 ENSG00000075043 ENSE00003709085 intron_variant -0.280272 0.20933 0.02542 0.056701 0.3152046 0.164506 0.9993561 TRUE 4.0805e-06 ENSE00001750848_010 ENSE00001750848 010 20 62069946 62070115 - 32 96 42 G T 62070088 2020 28 TGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGTGTCAGGTCACACCCCAGGGACCCCCCA 63438592 63438762 63438734 63438735 63438735 upstr_intron -15 -0.3333333 TGGGGGGTCCCTGGGGTGTGACCTGACACTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA mutant NA NA NA NA NA 786 207 0.9512844 0.9462393 0.9487618 0.06414024 0 0.7427874 0.8403731 NA NA 0.2084969 0.1058662 0.03207012 0.7915803 NA 0.1571816 NA FALSE NA 0.015 0.397 . intron_variant MODIFIER KCNQ2 HGNC 6296 ENST00000359689 6/17 rs374775048 1 NA T:0.0002 T:0 GGG G,T 8.237e-06 20:63438735 KCNQ2 HGNC Symbol protein_coding 72467 ENSG00000075043 ENSE00003709085 intron_variant 0.839264 0.94479 0.262 0.056701 0.7334345 0.166573 0.9993561 TRUE 4.08764e-06 ENSE00001750848_011 ENSE00001750848 011 20 62069946 62070115 - 32 96 42 C T 62070098 2021 18 TGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCATACCCCAGGGACCCCCCA 63438592 63438762 63438744 63438745 63438745 upstr_intron -25 -0.5714286 TGGGGGGTCCCTGGGGTATGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA mutant NA NA NA NA NA 32 376 0.8 0.7390332 0.7695166 0.06414024 0 0.7427874 0.8403731 NA NA 0.05721257 -0.1013399 0.03207012 0.7915803 NA -0.02206366 NA FALSE NA 0 -5.445 . intron_variant MODIFIER KCNQ2 HGNC 6296 ENST00000359689 6/17 rs369265451 1 NA T:0 T:0.0001 ACA C,T 1.648e-05 20:63438745 KCNQ2 HGNC Symbol protein_coding 72467 ENSG00000075043 ENSE00003709085 intron_variant 0.112438 0.07757 0.00083 0.056701 0.5696573 0.104326 0.9993561 TRUE 8.22051e-06 ENSE00001750848_BRK ENSE00001750848 BRK 20 62069946 62070115 - 32 96 42 A,G; T,T NA NA NA TGTGCTGGTCCCCGGGGGACACCTGGACTCGGCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCAAGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCA 63438592 63438762 NA NA NA NA NA NA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCTTGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGCCGAGTCCAGGTGTCCCCCGGGGACCAGCACA TGGGGGGTCCCTGGGGTGTGACCTGACCCTGATGAATTGCAGGGCATCTTGGGGTCTGGGTTTGCCCTGAAGGTTCAGGAGCAGCACAGGCAGAAGCACTTTGAGAAGAGGCGGAACCCGGCAGCAGGCCTGATCCAGGTGAGTCCAGGTGTCCCCCGGGGACCAGCACA control NA NA NA NA NA 150 248 0 0.00147713 0.0007385648 0.06414024 0 0.7427874 0.8403731 NA NA -0.7427874 -0.838896 0.03207012 0.7915803 NA -0.7908417 NA TRUE NA NA NA NA NA NA KCNQ2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCNQ2 NA NA NA ENSG00000075043 ENSE00003709085 NA NA NA NA NA NA NA 0.9993561 TRUE NA ENSE00001750934_000 ENSE00001750934 000 15 42684789 42684958 + 48 84 38 NA NA NA NA NA ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 NA NA NA NA NA NA ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC natural 29 15 0.9921504 0.9714646 0.9818075 292 1164 0.9908334 0.9964202 0.9936268 0.9921504 0.9714646 0.9908334 0.9964202 0 0 0 0 0.9818075 0.9936268 0 0 0 FALSE FALSE NA NA NA NA NA CAPN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAPN3 NA NA NA ENSG00000092529 ENSE00003688077 NA NA NA NA NA NA NA 9.73741e-09 FALSE NA ENSE00001751005_000 ENSE00001751005 000 17 42512397 42512566 - 36 87 47 NA NA NA NA NA CTCCCCATCTCCCAATGAATAGCTTTGTTTAAATACCTTGTACTTTTGTCTCAGCTCTTCTGTGTCTTCTTTTTCTACTTCTAGGACACGGCGCCGTTCGGTAGCATCTTCAGCATAATCAAGCTTGACAAAAATAGATATGATTAGATTTAATTCCTAAAGTACCCCCA 44435028 44435198 NA NA NA NA NA NA TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCAAGCTTGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCAAGCTTGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG natural 27 17 0.9937844 0.9609756 0.97738 490 1392 0.9927804 0.8668241 0.9298022 0.9937844 0.9609756 0.9927804 0.8668241 0 0 0 0 0.97738 0.9298022 0 0 0 FALSE FALSE NA NA NA NA NA GPATCH8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GPATCH8 NA NA NA ENSG00000186566 ENSE00003677877 NA NA NA NA NA NA NA 0.9994955 TRUE NA ENSE00001751005_008 ENSE00001751005 008 17 42512397 42512566 - 36 87 47 A G 42512511 2193 56 CTCCCCATCTCCCAATGAATAGCTTTGTTTAAATACCTTGTACTTTTGTCTCAGCTCTTCTGTGTCTTCTTTTTCTACTTCTAGGACACGGCGCCGTTCGGTAGCATCTTCAGCGTAATCAAGCTTGACAAAAATAGATATGATTAGATTTAATTCCTAAAGTACCCCCA 44435028 44435198 44435142 44435143 44435143 exon 9 0.1034483 TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCAAGCTTGATTACGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCAAGCTTGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG mutant NA NA NA NA NA 211 113 1 1 1 0.9937844 0.9609756 0.9927804 0.8668241 NA NA 0.007219621 0.1331759 0.97738 0.9298022 NA 0.07019775 NA FALSE NA 1 3.292 . synonymous_variant LOW GPATCH8 HGNC 29066 ENST00000591680 5/8 1 NA CAT A,G 8.237e-06 17:44435143 GPATCH8 HGNC Symbol protein_coding 108146 ENSG00000186566 ENSE00003677877 synonymous_variant -0.208488 0.97693 0.90377 0.732398 0.5901317 0 0.9994955 TRUE 4.06431e-06 ENSE00001751005_009 ENSE00001751005 009 17 42512397 42512566 - 36 87 47 A G 42512517 2194 50 CTCCCCATCTCCCAATGAATAGCTTTGTTTAAATACCTTGTACTTTTGTCTCAGCTCTTCTGTGTCTTCTTTTTCTACTTCTAGGACACGGCGCCGTTCGGTAGCATCTTCAGCATAATCGAGCTTGACAAAAATAGATATGATTAGATTTAATTCCTAAAGTACCCCCA 44435028 44435198 44435148 44435149 44435149 exon 3 0.03448276 TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCAAGCTCGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCAAGCTTGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG mutant NA NA NA NA NA 25 253 1 1 1 0.9937844 0.9609756 0.9927804 0.8668241 NA NA 0.007219621 0.1331759 0.97738 0.9298022 NA 0.07019775 NA FALSE NA 0.031 -0.558 . splice_region_variant&synonymous_variant LOW GPATCH8 HGNC 29066 ENST00000591680 5/8 1 NA CAA A,G 8.237e-06 17:44435149 GPATCH8 HGNC Symbol protein_coding 108146 ENSG00000186566 ENSE00003677877 splice_region_variant 1.420012 0.89546 0.15765 0.732398 0.8282978 0 0.9994955 TRUE 8.1324e-06 ENSE00001751005_011 ENSE00001751005 011 17 42512397 42512566 - 36 87 47 A G 42512530 2196 37 CTCCCCATCTCCCAATGAATAGCTTTGTTTAAATACCTTGTACTTTTGTCTCAGCTCTTCTGTGTCTTCTTTTTCTACTTCTAGGACACGGCGCCGTTCGGTAGCATCTTCAGCATAATCAAGCTTGACAAAAGTAGATATGATTAGATTTAATTCCTAAAGTACCCCCA 44435028 44435198 44435161 44435162 44435162 upstr_intron -11 -0.212766 TGGGGGTACTTTAGGAATTAAATCTAATCATATCTACTTTTGTCAAGCTTGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCAAGCTTGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG mutant NA NA NA NA NA 88 71 1 1 1 0.9937844 0.9609756 0.9927804 0.8668241 NA NA 0.007219621 0.1331759 0.97738 0.9298022 NA 0.07019775 NA FALSE NA 0.972 2.682 . intron_variant MODIFIER GPATCH8 HGNC 29066 ENST00000591680 4/7 1 NA AAT A,G 0.0001071 17:44435162 GPATCH8 HGNC Symbol protein_coding 108146 ENSG00000186566 ENSE00003677877 intron_variant 2.283533 0.96158 0.96601 0.088506 0.8721544 0.904759 0.9994955 TRUE 8.14365e-05 ENSE00001751005_BRK ENSE00001751005 BRK 17 42512397 42512566 - 36 87 47 A,G; T,T NA NA NA CTCCCCATCTCCCAATGAATAGCTTTGTTTAAATGGCTTGTACTTTTGTCTCAGCTCTTCTGTGTCTTCTTTTTCTACTTCTAGGACACGGCGCCGTTCGGTAGCATCTTCAGCATAATCAAGAATGACAAAAATAGATATGATTAGATTTAATTCCTAAAGTACCCCCA 44435028 44435198 NA NA NA NA NA NA TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCATTCTTGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGCCATTTAAACAAAGCTATTCATTGGGAGATGGGGAG TGGGGGTACTTTAGGAATTAAATCTAATCATATCTATTTTTGTCAAGCTTGATTATGCTGAAGATGCTACCGAACGGCGCCGTGTCCTAGAAGTAGAAAAAGAAGACACAGAAGAGCTGAGACAAAAGTACAAGGTATTTAAACAAAGCTATTCATTGGGAGATGGGGAG control 19 32 0.85 0.85 0.85 NA NA NA NA NA 0.9937844 0.9609756 0.9927804 0.8668241 -0.1437844 -0.1109756 NA NA 0.97738 0.9298022 -0.12738 NA NA NA FALSE NA NA NA NA NA GPATCH8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GPATCH8 NA NA NA ENSG00000186566 ENSE00003677877 NA NA NA NA NA NA NA 0.9994955 TRUE NA ENSE00001751160_000 ENSE00001751160 000 17 18040856 18041025 + 42 96 32 NA NA NA NA NA CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 NA NA NA NA NA NA GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG natural 356 576 0.8456589 0.8456381 0.8456485 807 418 0.9464544 0.8298752 0.8881648 0.8456589 0.8456381 0.9464544 0.8298752 0 0 0 0 0.8456485 0.8881648 0 0 0 FALSE FALSE NA NA NA NA NA MYO15A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO15A NA NA NA ENSG00000091536 ENSE00001751160 NA NA NA NA NA NA NA NA NA NA ENSE00001751160_002 ENSE00001751160 002 17 18040856 18041025 + 42 96 32 C T 18040881 907 26 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGAGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137566 18137567 18137567 upstr_intron -17 -0.3809524 GCCAAGGAAGGACCAGTCCCAGCACTCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 41 24 0.9815855 1 0.9907928 0.8456589 0.8456381 0.9464544 0.8298752 NA NA 0.03513113 0.1701248 0.8456485 0.8881648 NA 0.102628 NA FALSE NA 0 1.46 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 15/65 1 NA CCC C,T 8.261e-06 17:18137567 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 intron_variant -0.235492 0.13794 0.03183 0.06567 0.3602305 0.0716944 NA NA 4.07166e-06 ENSE00001751160_003 ENSE00001751160 003 17 18040856 18041025 + 42 96 32 C G 18040882 908 27 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGCGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137567 18137568 18137568 upstr_intron -16 -0.3571429 GCCAAGGAAGGACCAGTCCCAGCACCGCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 86 17 0.9830584 1 0.9915292 0.8456589 0.8456381 0.9464544 0.8298752 NA NA 0.03660403 0.1701248 0.8456485 0.8881648 NA 0.1033644 NA FALSE NA 0 -1.023 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 15/65 1 NA CCC C,G 1.652e-05 17:18137568 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 intron_variant -0.409541 0.08792 0.01 0.06567 0.4113661 0.0716944 NA NA 2.4421e-05 ENSE00001751160_004 ENSE00001751160 004 17 18040856 18041025 + 42 96 32 A C 18040889 909 34 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGGGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137574 18137575 18137575 upstr_intron -9 -0.1904762 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCCCCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 327 66 0.01513168 0 0.00756584 0.8456589 0.8456381 0.9464544 0.8298752 NA NA -0.9313227 -0.8298752 0.8456485 0.8881648 NA -0.880599 NA TRUE NA 0 -2.405 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 15/65 1 NA CAC A,C 8.261e-06 17:18137575 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 intron_variant -0.31214 0.06748 0.0057 0.06567 0.5360391 0.097896 NA NA 4.06577e-06 ENSE00001751160_005 ENSE00001751160 005 17 18040856 18041025 + 42 96 32 T G 18040907 910 52 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGACGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137592 18137593 18137593 exon 10 0.1041667 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCGTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 349 195 0.9867909 0.9738763 0.9803336 0.8456589 0.8456381 0.9464544 0.8298752 NA NA 0.0403365 0.1440011 0.8456485 0.8881648 NA 0.09216879 NA FALSE NA 1 2.601 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 1 unknown(0) NA CTT T,G 8.261e-06 17:18137593 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 2.844079 0.98925 0.91735 0.497415 0.9764665 0 NA NA 4.06283e-06 ENSE00001751160_006 ENSE00001751160 006 17 18040856 18041025 + 42 96 32 C T 18040925 911 70 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAACTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137610 18137611 18137611 exon 28 0.2916667 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGTTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant 52 56 0.85 0.85 0.85 680 105 0.8002369 0.8 0.8001185 0.8456589 0.8456381 0.9464544 0.8298752 0.004341058 0.00436186 -0.1462174 -0.0298752 0.8456485 0.8881648 0.004351459 -0.08804632 0.09239778 FALSE FALSE 1 5.97 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 16/66 rs368865502 1 NA T:0 T:0.0001 GCT C,T 0.0001322 17:18137611 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 synonymous_variant 1.259227 0.99213 0.97341 0.497415 0.7499661 0 NA NA 9.74881e-05 ENSE00001751160_007 ENSE00001751160 007 17 18040856 18041025 + 42 96 32 C T 18040939 912 84 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCATAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137624 18137625 18137625 exon 42 0.4375 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTATGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant 439 51 0 0 0 NA NA NA NA NA 0.8456589 0.8456381 0.9464544 0.8298752 -0.8456589 -0.8456381 NA NA 0.8456485 0.8881648 -0.8456485 NA NA NA TRUE 0.034 -0.855 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 16/66 1 NA ACG C,T 1.653e-05 17:18137625 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 synonymous_variant 1.535507 0.95619 0.04129 0.497415 0.3860619 0 NA NA 1.62476e-05 ENSE00001751160_008 ENSE00001751160 008 17 18040856 18041025 + 42 96 32 G A 18040940 913 85 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGTGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137625 18137626 18137626 exon 43 0.4479167 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACACAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 487 836 0.7956314 0.8024194 0.7990254 0.8456589 0.8456381 0.9464544 0.8298752 NA NA -0.150823 -0.02745583 0.8456485 0.8881648 NA -0.08913942 NA FALSE NA 1 9.736 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 1 unknown(0) NA CGC G,A 4.959e-05 17:18137626 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 5.327813 0.99192 0.98792 0.497415 0.9971801 0 NA NA 3.65592e-05 ENSE00001751160_009 ENSE00001751160 009 17 18040856 18041025 + 42 96 32 C T 18040945 914 90 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCATTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137630 18137631 18137631 exon 48 0.5 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAATGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant 16 30 0.85 0.85 0.85 1043 178 0.6988844 0.8 0.7494422 0.8456589 0.8456381 0.9464544 0.8298752 0.004341058 0.00436186 -0.24757 -0.0298752 0.8456485 0.8881648 0.004351459 -0.1387226 0.1430741 FALSE FALSE 0.001 -1.1 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 16/66 rs372121604&COSM976203 1 NA T:0 T:0.0001 ACG C,T 1.653e-05 17:18137631 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 synonymous_variant 1.982735 0.85446 0.09944 0.497415 0.7693142 0 NA NA 1.21858e-05 ENSE00001751160_010 ENSE00001751160 010 17 18040856 18041025 + 42 96 32 G A 18040946 915 91 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTTGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137631 18137632 18137632 exon -48 0.5104167 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACAAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 732 283 0.9327492 0.8665929 0.8996711 0.8456589 0.8456381 0.9464544 0.8298752 NA NA -0.01370515 0.03671767 0.8456485 0.8881648 NA 0.01150626 NA FALSE NA 1 9.736 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 1 unknown(0) NA CGA G,A 8.265e-06 17:18137632 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 6.072402 0.99532 0.99127 0.497415 0.9988452 0 NA NA 8.12394e-06 ENSE00001751160_011 ENSE00001751160 011 17 18040856 18041025 + 42 96 32 A G 18040947 916 92 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCCCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137632 18137633 18137633 exon -47 0.5208333 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGGGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 41 66 0.9718719 0.9595015 0.9656867 0.8456589 0.8456381 0.9464544 0.8298752 NA NA 0.02541751 0.1296263 0.8456485 0.8881648 NA 0.07752189 NA FALSE NA 1 9.214 rs141195301 missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 rs141195301 1 unknown(0) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GAG A,G 8.265e-06 17:18137633 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 5.194268 0.99357 0.99027 0.497415 0.9979048 0 NA NA 4.06177e-06 ENSE00001751160_012 ENSE00001751160 012 17 18040856 18041025 + 42 96 32 C T 18040961 917 106 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAAGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137646 18137647 18137647 exon -33 0.6666667 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACTTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 110 795 0.9814522 0.8187438 0.900098 0.8456589 0.8456381 0.9464544 0.8298752 NA NA 0.03499782 -0.01113142 0.8456485 0.8881648 NA 0.0119332 NA FALSE NA 1 4.977 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 1 unknown(0) NA CCT C,T 8.267e-06 17:18137647 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 1.757545 0.98563 0.74261 0.497415 0.4305245 0 NA NA 4.06266e-06 ENSE00001751160_013 ENSE00001751160 013 17 18040856 18041025 + 42 96 32 T A 18040965 918 110 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGTAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137650 18137651 18137651 exon -29 0.7083333 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTACAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant 20 28 0.85 0.85 0.85 NA NA NA NA NA 0.8456589 0.8456381 0.9464544 0.8298752 0.004341058 0.00436186 NA NA 0.8456485 0.8881648 0.004351459 NA NA NA FALSE 1 7.935 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 1 unknown(0) NA TTC T,A 8.268e-06 17:18137651 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 4.7739 0.99352 0.98542 0.497415 0.989703 0 NA NA 4.06279e-06 ENSE00001751160_014 ENSE00001751160 014 17 18040856 18041025 + 42 96 32 C G 18040966 919 111 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTCAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137651 18137652 18137652 exon -28 0.71875 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTGAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant 27 32 0.85 0.85 0.85 183 33 0.8911048 0.826431 0.8587679 0.8456589 0.8456381 0.9464544 0.8298752 0.004341058 0.00436186 -0.05534957 -0.003444181 0.8456485 0.8881648 0.004351459 -0.02939687 0.03374833 FALSE FALSE 1 2.084 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 rs368430972 1 unknown(0) NA G:0 G:0.0001 TCA C,G 3.307e-05 17:18137652 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 4.190032 0.98402 0.92037 0.497415 0.9944429 0 NA NA 6.09414e-05 ENSE00001751160_015 ENSE00001751160 015 17 18040856 18041025 + 42 96 32 A G 18040970 920 115 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACGATCTCGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137655 18137656 18137656 exon -24 0.7604167 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACGAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 879 17 0.9905938 0.95 0.9702969 0.8456589 0.8456381 0.9464544 0.8298752 NA NA 0.04413944 0.1201248 0.8456485 0.8881648 NA 0.08213212 NA FALSE NA 1 7.186 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 1 unknown(0) NA CAA A,G 1.654e-05 17:18137656 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 4.068615 0.98542 0.97121 0.497415 0.9962243 0 NA NA 8.12579e-06 ENSE00001751160_016 ENSE00001751160 016 17 18040856 18041025 + 42 96 32 C A 18040975 921 120 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGACTATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137660 18137661 18137661 exon -19 0.8125 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATAGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 27 45 0.01448463 0 0.007242315 0.8456589 0.8456381 0.9464544 0.8298752 NA NA -0.9319698 -0.8298752 0.8456485 0.8881648 NA -0.8809225 NA TRUE NA 0.396 0.012 . synonymous_variant LOW MYO15A HGNC 7594 ENST00000205890 16/66 COSM2740669 1 NA TCG C,A 8.268e-06 17:18137661 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 synonymous_variant 3.100229 0.95887 0.78434 0.497415 0.7171037 0 NA NA 4.06474e-06 ENSE00001751160_017 ENSE00001751160 017 17 18040856 18041025 + 42 96 32 G A 18040976 922 121 CAGGGACAGGAGTATTAATGGGGCCCACACACCTGCTCCTCCTGGAAGATGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137661 18137662 18137662 exon -18 0.8229167 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCATCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant 121 228 0.85 0.85 0.85 NA NA NA NA NA 0.8456589 0.8456381 0.9464544 0.8298752 0.004341058 0.00436186 NA NA 0.8456485 0.8881648 0.004351459 NA NA NA FALSE 0.503 0.76 . missense_variant MODERATE MYO15A HGNC 7594 ENST00000205890 16/66 1 unknown(0) NA CGT G,A 7.442e-05 17:18137662 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 missense_variant 1.072811 0.84331 0.61771 0.497415 0.5729602 0 NA NA 7.316e-05 ENSE00001751160_018 ENSE00001751160 018 17 18040856 18041025 + 42 96 32 G A 18040996 923 141 CAGGGACAGGAGTATTAATGGGGCCCACATACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137681 18137682 18137682 downstr_intron 3 1.096774 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTATGTGGGCCCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 66 300 0.99767 0.9964997 0.9970848 0.8456589 0.8456381 0.9464544 0.8298752 NA NA 0.05121558 0.1666244 0.8456485 0.8881648 NA 0.10892 NA FALSE NA 0.981 1.045 . splice_region_variant&intron_variant LOW MYO15A HGNC 7594 ENST00000205890 16/65 rs200246472 1 NA A:0 A:0.0002 TGT G,A 0.0001075 17:18137682 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 splice_region_variant 1.70183 0.98145 0.54437 0.06567 0.8946377 0.486638 NA NA 0.000105928 ENSE00001751160_019 ENSE00001751160 019 17 18040856 18041025 + 42 96 32 C T 18041004 924 149 CAGGGACAGGAGTATTAATGGAGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137689 18137690 18137690 downstr_intron 11 1.354839 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCTCCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 918 765 0.8090213 0.8 0.8045107 0.8456589 0.8456381 0.9464544 0.8298752 NA NA -0.1374331 -0.0298752 0.8456485 0.8881648 NA -0.08365414 NA FALSE NA 0 -1.659 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 16/65 1 NA CCC C,T 4.962e-05 17:18137690 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 intron_variant 1.629759 0.38108 0.02014 0.053691 0.7601411 0.583527 NA NA 3.67912e-05 ENSE00001751160_020 ENSE00001751160 020 17 18040856 18041025 + 42 96 32 C T 18041005 925 150 CAGGGACAGGAGTATTAATGAGGCCCACACACCTGCTCCTCCTGGAAGACGATCTTGTTGAAAAGGTACTGAAGGTTCTCGTTTGCGTAGTTAATACACAGCTGCTCAAAGCTGTTGAAGCTCAGGTCCTGCCAGGTGGATGGGGGTGCTGGGACTGGTCCTTCCTTGGC 18137541 18137711 18137690 18137691 18137691 downstr_intron 12 1.387097 GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCTCATTAATACTCCTGTCCCTG GCCAAGGAAGGACCAGTCCCAGCACCCCCATCCACCTGGCAGGACCTGAGCTTCAACAGCTTTGAGCAGCTGTGTATTAACTACGCAAACGAGAACCTTCAGTACCTTTTCAACAAGATCGTCTTCCAGGAGGAGCAGGTGTGTGGGCCCCATTAATACTCCTGTCCCTG mutant NA NA NA NA NA 746 948 0.8 0.8002667 0.8001334 0.8456589 0.8456381 0.9464544 0.8298752 NA NA -0.1464544 -0.02960848 0.8456485 0.8881648 NA -0.08803143 NA FALSE NA 0 0.678 . intron_variant MODIFIER MYO15A HGNC 7594 ENST00000205890 16/65 1 NA CCC C,T 1.654e-05 17:18137691 MYO15A HGNC Symbol protein_coding 71100 ENSG00000091536 ENSE00001751160 intron_variant 0.507605 0.20555 0.05716 0.053691 0.5701129 0.0955879 NA NA 1.22664e-05 ENSE00001751163_000 ENSE00001751163 000 14 64565412 64565581 + 53 75 42 NA NA NA NA NA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 NA NA NA NA NA NA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA natural 591 1132 0.8472126 0.817894 0.8325533 3234 3808 0.8038316 0.633998 0.7189148 0.8472126 0.817894 0.8038316 0.633998 0 0 0 0 0.8325533 0.7189148 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003582628 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001751163_008 ENSE00001751163 008 14 64565412 64565581 + 53 75 42 T C 64565453 524 42 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACGGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098734 64098735 64098735 upstr_intron -12 -0.2075472 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCCGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 23 34 0 0 0 NA NA NA NA NA 0.8472126 0.817894 0.8038316 0.633998 -0.8472126 -0.817894 NA NA 0.8325533 0.7189148 -0.8325533 NA NA NA TRUE 0.657 0.417 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003582628 non_coding_transcript_exon_variant 2.047449 0.95975 0.38884 0.163922 0.7676165 0.197235 0.454891 FALSE 4.07057e-06 ENSE00001751163_015 ENSE00001751163 015 14 64565412 64565581 + 53 75 42 T G 64565480 531 69 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGCGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098761 64098762 64098762 exon 16 0.2133333 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCGCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 31 60 0.85 0.7774072 0.8137036 34 297 0.8 0.8 0.8 0.8472126 0.817894 0.8038316 0.633998 0.002787386 -0.04048679 -0.003831605 0.166002 0.8325533 0.7189148 -0.0188497 0.08108521 0.09993491 FALSE FALSE 0.852 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003582628 missense_variant 1.441579 0.96204 0.57701 0.732398 0.7096217 0 0.0002572748 FALSE 1.21921e-05 ENSE00001751163_026 ENSE00001751163 026 14 64565412 64565581 + 53 75 42 G A 64565528 542 117 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCATGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098809 64098810 64098810 exon -12 0.8533333 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCATGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 646 534 0.6569084 0.6737946 0.6653515 0.8472126 0.817894 0.8038316 0.633998 NA NA -0.1469232 0.03979667 0.8325533 0.7189148 NA -0.05356329 NA FALSE NA 0.002 -0.429 NA NA NA SYNE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNE2 NA NA NA ENSG00000054654 ENSE00003582628 missense_variant -0.419298 0.27888 0.01998 0.732398 0.9225814 0 1.853352e-11 FALSE 4.47009e-05 ENSE00001751163_BRK ENSE00001751163 BRK 14 64565412 64565581 + 53 75 42 A,G; T,T NA NA NA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCTTTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATCCAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 NA NA NA NA NA NA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCTTTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATCCAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA control 105 443 0 0 0 442 189 0 0 0 0.8472126 0.817894 0.8038316 0.633998 -0.8472126 -0.817894 -0.8038316 -0.633998 0.8325533 0.7189148 -0.8325533 -0.7189148 0.1136385 TRUE TRUE NA NA NA NA NA SYNE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNE2 NA NA NA ENSG00000054654 ENSE00003582628 NA NA NA NA NA NA NA 1.853352e-11 FALSE NA ENSE00001751835_000 ENSE00001751835 000 5 133536641 133536810 - 35 90 45 NA NA NA NA NA ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA 134200949 134201119 NA NA NA NA NA NA ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA natural NA NA NA NA NA 3988 4188 0.9905029 0.9200845 0.9552937 NA NA 0.9905029 0.9200845 NA NA 0 0 NA 0.9552937 NA 0 NA FALSE NA NA NA NA NA NA PPP2CA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP2CA NA NA NA ENSG00000113575 ENSE00001751835 NA NA NA NA NA NA NA 0.9855093 TRUE NA ENSE00001751965_000 ENSE00001751965 000 13 101936248 101936417 - 36 87 47 NA NA NA NA NA GTTCCATATTAAATGTCTCTGACTCATCTCCCTTCTTTGTCTTGAAGATGTTTCATGAAGATGCTGCTGGAGGTTGGCAGCTGGTAGCTGTGGATGTCAACAAGCCCCAGGGACGCGCCCCAGCCTGCCTCCAGGTGCAGTACAATGACATTTTTAAAAATCGCCCAGCA 101283896 101284066 NA NA NA NA NA NA GTTCCATATTAAATGTCTCTGACTCATCTCCCTTCTTTGTCTTGAAGATGTTTCATGAAGATGCTGCTGGAGGTTGGCAGCTGGTAGCTGTGGATGTCAACAAGCCCCAGGGACGCGCCCCAGCCTGCCTCCAGGTGCAGTACAATGACATTTTTAAAAATCGCCCAGCA GTTCCATATTAAATGTCTCTGACTCATCTCCCTTCTTTGTCTTGAAGATGTTTCATGAAGATGCTGCTGGAGGTTGGCAGCTGGTAGCTGTGGATGTCAACAAGCCCCAGGGACGCGCCCCAGCCTGCCTCCAGGTGCAGTACAATGACATTTTTAAAAATCGCCCAGCA natural NA NA NA NA NA 2798 2451 0.9685637 0.9627271 0.9656454 NA NA 0.9685637 0.9627271 NA NA 0 0 NA 0.9656454 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003623152 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001751965_BRK ENSE00001751965 BRK 13 101936248 101936417 - 36 87 47 A,G; T,T NA NA NA GTTCCATATTAAATGTCTCTGACTCATCTCCCTTCTTTGTCTTGATTATGTTTCATGAAGATGCTGCTGGAGGTTGGCAGCTGGTAGCTGTGGATGTCAACAAGCCCCAGGGACGCGCCCCAGCCTGCCTCCAGCCGCAGTACAATGACATTTTTAAAAATCGCCCAGCA 101283896 101284066 NA NA NA NA NA NA GTTCCATATTAAATGTCTCTGACTCATCTCCCTTCTTTGTCTTGATTATGTTTCATGAAGATGCTGCTGGAGGTTGGCAGCTGGTAGCTGTGGATGTCAACAAGCCCCAGGGACGCGCCCCAGCCTGCCTCCAGCCGCAGTACAATGACATTTTTAAAAATCGCCCAGCA GTTCCATATTAAATGTCTCTGACTCATCTCCCTTCTTTGTCTTGAAGATGTTTCATGAAGATGCTGCTGGAGGTTGGCAGCTGGTAGCTGTGGATGTCAACAAGCCCCAGGGACGCGCCCCAGCCTGCCTCCAGGTGCAGTACAATGACATTTTTAAAAATCGCCCAGCA control NA NA NA NA NA 887 237 0 0 0 NA NA 0.9685637 0.9627271 NA NA -0.9685637 -0.9627271 NA 0.9656454 NA -0.9656454 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003623152 NA NA NA NA NA NA NA NA NA NA ENSE00001752656_000 ENSE00001752656 000 16 16346245 16346414 + 45 90 35 NA NA NA NA NA GATCATGTTAGTGGTTCTTAGTGATTAAGAGACTCTTCCTTCCAGATTCCGTTCTATCGAGGGGAGAGGATTACCTTTGATGTGGCGCCTTCCAGACTTGACTTCACAGTGGAGCATGACAGCTTGAAAATCGAGGTAAGGCTTTTCTGTCTTCTGGAGGGACAGGTGTT 16252387 16252557 NA NA NA NA NA NA GATCATGTTAGTGGTTCTTAGTGATTAAGAGACTCTTCCTTCCAGATTCCGTTCTATCGAGGGGAGAGGATTACCTTTGATGTGGCGCCTTCCAGACTTGACTTCACAGTGGAGCATGACAGCTTGAAAATCGAGGTAAGGCTTTTCTGTCTTCTGGAGGGACAGGTGTT GATCATGTTAGTGGTTCTTAGTGATTAAGAGACTCTTCCTTCCAGATTCCGTTCTATCGAGGGGAGAGGATTACCTTTGATGTGGCGCCTTCCAGACTTGACTTCACAGTGGAGCATGACAGCTTGAAAATCGAGGTAAGGCTTTTCTGTCTTCTGGAGGGACAGGTGTT natural 105 79 0.9960539 0.9960784 0.9960662 5477 4491 0.973523 0.9949537 0.9842383 0.9960539 0.9960784 0.973523 0.9949537 0 0 0 0 0.9960662 0.9842383 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003519468 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001752656_BRK ENSE00001752656 BRK 16 16346245 16346414 + 45 90 35 A,G; T,T NA NA NA GATCATGTTAGTGGTTCTTAGTGATTAAGAGACTCTTCCTTCCTTATTCCGTTCTATCGAGGGGAGAGGATTACCTTTGATGTGGCGCCTTCCAGACTTGACTTCACAGTGGAGCATGACAGCTTGAAAATCGAGCCAAGGCTTTTCTGTCTTCTGGAGGGACAGGTGTT 16252387 16252557 NA NA NA NA NA NA GATCATGTTAGTGGTTCTTAGTGATTAAGAGACTCTTCCTTCCTTATTCCGTTCTATCGAGGGGAGAGGATTACCTTTGATGTGGCGCCTTCCAGACTTGACTTCACAGTGGAGCATGACAGCTTGAAAATCGAGCCAAGGCTTTTCTGTCTTCTGGAGGGACAGGTGTT GATCATGTTAGTGGTTCTTAGTGATTAAGAGACTCTTCCTTCCAGATTCCGTTCTATCGAGGGGAGAGGATTACCTTTGATGTGGCGCCTTCCAGACTTGACTTCACAGTGGAGCATGACAGCTTGAAAATCGAGGTAAGGCTTTTCTGTCTTCTGGAGGGACAGGTGTT control 267 23 0 0 0 1158 282 0.04784346 0.02993538 0.03888942 0.9960539 0.9960784 0.973523 0.9949537 -0.9960539 -0.9960784 -0.9256795 -0.9650183 0.9960662 0.9842383 -0.9960662 -0.9453489 0.05071725 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003519468 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001752950_000 ENSE00001752950 000 15 82822667 82822836 - 47 66 57 NA NA NA NA NA AGAGGTGAGTGATAATCTCATTGATTGGTATTTTGACCCTACCTCGTTTCCTTGTAGGTCTCAGCCTTGGATCAGGAGATTATTGAAGTAGATCCTGACACTAAGGAAATGCTGAAGCTTTTGGTAAGTGTTTGCTGGATTCCTAAAGTGGTATTTTCCTGGTCAAAAAC 82538258 82538428 NA NA NA NA NA NA AGAGGTGAGTGATAATCTCATTGATTGGTATTTTGACCCTACCTCGTTTCCTTGTAGGTCTCAGCCTTGGATCAGGAGATTATTGAAGTAGATCCTGACACTAAGGAAATGCTGAAGCTTTTGGTAAGTGTTTGCTGGATTCCTAAAGTGGTATTTTCCTGGTCAAAAAC AGAGGTGAGTGATAATCTCATTGATTGGTATTTTGACCCTACCTCGTTTCCTTGTAGGTCTCAGCCTTGGATCAGGAGATTATTGAAGTAGATCCTGACACTAAGGAAATGCTGAAGCTTTTGGTAAGTGTTTGCTGGATTCCTAAAGTGGTATTTTCCTGGTCAAAAAC natural 29 15 0.9842167 0.9891049 0.9866608 1666 2713 0.9990398 0.9920473 0.9955435 0.9842167 0.9891049 0.9990398 0.9920473 0 0 0 0 0.9866608 0.9955435 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003684593 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001752950_BRK ENSE00001752950 BRK 15 82822667 82822836 - 47 66 57 A,G; T,T NA NA NA AGAGGTGAGTGATAATCTCATTGATTGGTATTTTGACCCTACCTCGTTTCCTTGTTTGTCTCAGCCTTGGATCAGGAGATTATTGAAGTAGATCCTGACACTAAGGAAATGCTGAAGCTTTTGCCAAGTGTTTGCTGGATTCCTAAAGTGGTATTTTCCTGGTCAAAAAC 82538258 82538428 NA NA NA NA NA NA AGAGGTGAGTGATAATCTCATTGATTGGTATTTTGACCCTACCTCGTTTCCTTGTTTGTCTCAGCCTTGGATCAGGAGATTATTGAAGTAGATCCTGACACTAAGGAAATGCTGAAGCTTTTGCCAAGTGTTTGCTGGATTCCTAAAGTGGTATTTTCCTGGTCAAAAAC AGAGGTGAGTGATAATCTCATTGATTGGTATTTTGACCCTACCTCGTTTCCTTGTAGGTCTCAGCCTTGGATCAGGAGATTATTGAAGTAGATCCTGACACTAAGGAAATGCTGAAGCTTTTGGTAAGTGTTTGCTGGATTCCTAAAGTGGTATTTTCCTGGTCAAAAAC control NA NA NA NA NA 379 1028 0 0.0003111726 0.0001555863 0.9842167 0.9891049 0.9990398 0.9920473 NA NA -0.9990398 -0.9917361 0.9866608 0.9955435 NA -0.9953879 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003684593 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001753202_000 ENSE00001753202 000 1 103484315 103484484 - 59 42 69 NA NA NA NA NA TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 NA NA NA NA NA NA TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT natural 30 153 0.85 0.85 0.85 3817 5794 0.7333699 0.6841471 0.7087585 0.85 0.85 0.7333699 0.6841471 0 0 0 0 0.85 0.7087585 0 0 0 FALSE FALSE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001753202 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001753202_001 ENSE00001753202 001 1 103484315 103484484 - 59 42 69 T C 103484329 2971 156 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCGTATATAAGATTTCT 103018758 103018928 103018772 103018773 103018773 downstr_intron 45 1.775862 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCGTATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 177 96 0.8054485 0.8181325 0.8117905 0.85 0.85 0.7333699 0.6841471 NA NA 0.07207857 0.1339854 0.85 0.7087585 NA 0.103032 NA FALSE NA 0.047 1.992 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 8/64 1 NA ATG T,C 8.246e-06 1:103018773 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant -0.132492 0.16415 0.33803 0.053691 0.516815 0.0448725 0.9999806 TRUE NA ENSE00001753202_002 ENSE00001753202 002 1 103484315 103484484 - 59 42 69 T C 103484332 2972 153 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAGTCATATATAAGATTTCT 103018758 103018928 103018775 103018776 103018776 downstr_intron 42 1.724138 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAGTCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 824 634 0.8042936 0.9987507 0.9015222 0.85 0.85 0.7333699 0.6841471 NA NA 0.07092372 0.3146036 0.85 0.7087585 NA 0.1927637 NA FALSE NA 0 -0.005 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 8/64 1 NA ATT T,C 4.946e-05 1:103018776 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant 0.111658 0.20488 0.03796 0.053691 0.7714829 0.0443366 0.9999806 TRUE 3.83331e-05 ENSE00001753202_003 ENSE00001753202 003 1 103484315 103484484 - 59 42 69 T C 103484337 2973 148 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAGAGTAATCATATATAAGATTTCT 103018758 103018928 103018780 103018781 103018781 downstr_intron 37 1.637931 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAGAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 93 34 0.8 0.8 0.8 0.85 0.85 0.7333699 0.6841471 NA NA 0.06663008 0.1158529 0.85 0.7087585 NA 0.09124149 NA FALSE NA 0 -0.621 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 8/64 1 NA TTT T,C 1.648e-05 1:103018781 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant -0.164468 0.0929 0.06456 0.053691 0.4631653 0.0443366 0.9999806 TRUE 8.30089e-06 ENSE00001753202_005 ENSE00001753202 005 1 103484315 103484484 - 59 42 69 T A 103484342 2975 143 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTTTTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018785 103018786 103018786 downstr_intron 32 1.551724 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTTTTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 1672 320 0.8 0.7876046 0.7938023 0.85 0.85 0.7333699 0.6841471 NA NA 0.06663008 0.1034575 0.85 0.7087585 NA 0.08504379 NA FALSE NA 0.016 -0.207 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:103018786 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant 1.501313 0.06247 0.00058 0.053691 0.7043797 0.0443366 0.9999806 TRUE 1.23199e-05 ENSE00001753202_006 ENSE00001753202 006 1 103484315 103484484 - 59 42 69 T C 103484342 2976 143 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTGTTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018785 103018786 103018786 downstr_intron 32 1.551724 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTGTTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 1241 14 0.8007788 0.8 0.8003894 0.85 0.85 0.7333699 0.6841471 NA NA 0.06740885 0.1158529 0.85 0.7087585 NA 0.09163088 NA FALSE NA 0.016 -0.207 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001753202 intron_variant 1.107434 0.209 0.02338 0.053691 0.8161405 0.0443366 0.9999806 TRUE 4.10664e-06 ENSE00001753202_010 ENSE00001753202 010 1 103484315 103484484 - 59 42 69 A T 103484353 2980 132 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATAATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018796 103018797 103018797 downstr_intron 21 1.362069 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATAATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 40 379 0.8 0.8 0.8 0.85 0.85 0.7333699 0.6841471 NA NA 0.06663008 0.1158529 0.85 0.7087585 NA 0.09124149 NA FALSE NA 0.001 1.939 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 8/64 1 NA TAA A,T 8.237e-06 1:103018797 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant 1.043376 0.21808 0.06062 0.053691 0.7529695 0.0682314 0.9999806 TRUE 4.07661e-06 ENSE00001753202_012 ENSE00001753202 012 1 103484315 103484484 - 59 42 69 A C 103484362 2982 123 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGGTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018805 103018806 103018806 downstr_intron 12 1.206897 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGGTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 246 175 0.8 0.8388238 0.8194119 0.85 0.85 0.7333699 0.6841471 NA NA 0.06663008 0.1546767 0.85 0.7087585 NA 0.1106534 NA FALSE NA 0 1.356 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 8/64 1 NA AAC A,C 8.237e-06 1:103018806 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant 1.812292 0.265 0.11488 0.053691 0.8531154 0.333442 0.9999806 TRUE 4.0707e-06 ENSE00001753202_013 ENSE00001753202 013 1 103484315 103484484 - 59 42 69 C T 103484363 2983 122 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATATTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018806 103018807 103018807 downstr_intron 11 1.189655 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATATTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 26 50 0.95 0.9283009 0.9391504 0.85 0.85 0.7333699 0.6841471 NA NA 0.2166301 0.2441538 0.85 0.7087585 NA 0.2303919 NA FALSE NA 0 -2.299 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 8/64 1 NA ACA C,T 4.118e-05 1:103018807 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant 2.077116 0.10797 0.00734 0.053691 0.6988729 0.333442 0.9999806 TRUE 1.62778e-05 ENSE00001753202_014 ENSE00001753202 014 1 103484315 103484484 - 59 42 69 G A 103484396 2984 89 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACTACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018839 103018840 103018840 exon 20 0.4761905 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACTACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 142 21 0.8 0.8 0.8 0.85 0.85 0.7333699 0.6841471 NA NA 0.06663008 0.1158529 0.85 0.7087585 NA 0.09124149 NA FALSE NA 1 6.614 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 8/65 1 unknown(0) NA TGG G,A 1.647e-05 1:103018840 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 missense_variant 7.155404 0.99403 0.9852 0.615465 0.994933 0 0.9999806 TRUE 8.12856e-06 ENSE00001753202_018 ENSE00001753202 018 1 103484315 103484484 - 59 42 69 T C 103484412 2988 73 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTGTGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018855 103018856 103018856 exon 4 0.0952381 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTGTGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant 88 63 0.8763105 0.85 0.8631553 328 859 0.8146386 0.8 0.8073193 0.85 0.85 0.7333699 0.6841471 0.02631054 0 0.08126866 0.1158529 0.85 0.7087585 0.01315527 0.09856078 0.08540551 FALSE FALSE 1 6.887 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 8/65 1 unknown(0) NA ATA T,C 8.236e-06 1:103018856 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 missense_variant 4.675396 0.99171 0.98649 0.615465 0.9812782 0 0.9999806 TRUE 4.06461e-06 ENSE00001753202_019 ENSE00001753202 019 1 103484315 103484484 - 59 42 69 C T 103484422 2989 63 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTATTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018865 103018866 103018866 upstr_intron -7 -0.08695652 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTATTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 15 77 0.8 0.8 0.8 0.85 0.85 0.7333699 0.6841471 NA NA 0.06663008 0.1158529 0.85 0.7087585 NA 0.09124149 NA FALSE NA 0 -1.66 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:103018866 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 splice_region_variant -0.148479 0.09385 0.00233 0.053691 0.3956437 0.14229 0.9999806 TRUE 1.21981e-05 ENSE00001753202_021 ENSE00001753202 021 1 103484315 103484484 - 59 42 69 G C 103484430 2991 55 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTGTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018873 103018874 103018874 upstr_intron -15 -0.2028986 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTGTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 12 395 0.8 0.8 0.8 0.85 0.85 0.7333699 0.6841471 NA NA 0.06663008 0.1158529 0.85 0.7087585 NA 0.09124149 NA FALSE NA 0 -2.366 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:103018874 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant -1.030591 0.04853 0.01244 0.053691 0.3373515 0.0448725 0.9999806 TRUE 2.03328e-05 ENSE00001753202_024 ENSE00001753202 024 1 103484315 103484484 - 59 42 69 C T 103484440 2994 45 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAAAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018883 103018884 103018884 upstr_intron -25 -0.3478261 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAAAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 1065 1249 0.9998561 0.9908191 0.9953376 0.85 0.85 0.7333699 0.6841471 NA NA 0.2664862 0.306672 0.85 0.7087585 NA 0.2865791 NA FALSE NA 0 -0.057 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 7/64 1 NA TCT C,T 1.647e-05 1:103018884 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant 0.034392 0.08376 0.00103 0.053691 0.3313555 0.0448725 0.9999806 TRUE 1.22142e-05 ENSE00001753202_025 ENSE00001753202 025 1 103484315 103484484 - 59 42 69 T C 103484441 2995 44 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTGGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018884 103018885 103018885 upstr_intron -26 -0.3623188 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTGGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 1185 1268 0.09023059 0.03587677 0.06305368 0.85 0.85 0.7333699 0.6841471 NA NA -0.6431393 -0.6482703 0.85 0.7087585 NA -0.6457048 NA TRUE NA 0 0.373 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 7/64 rs200467859 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0014 C:0 CTA T,C 9.884e-05 1:103018885 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant -0.179918 0.17078 0.05423 0.053691 0.3919865 0.0448725 0.9999806 TRUE 8.14617e-05 ENSE00001753202_026 ENSE00001753202 026 1 103484315 103484484 - 59 42 69 G C 103484447 2996 38 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCGCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018890 103018891 103018891 upstr_intron -32 -0.4492754 TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCGCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant 10 13 0.85 0.85 0.85 898 123 0.812311 0.8153204 0.8138157 0.85 0.85 0.7333699 0.6841471 0 -1.110223e-16 0.07894106 0.1311733 0.85 0.7087585 -5.551115e-17 0.1050572 0.1050572 FALSE FALSE 0 -0.957 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 7/64 1 NA GGG G,C 8.237e-06 1:103018891 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant -0.311898 0.17461 0.02909 0.053691 0.3934348 0.0448725 0.9999806 TRUE 4.08133e-06 ENSE00001753202_027 ENSE00001753202 027 1 103484315 103484484 - 59 42 69 C T 103484465 2997 20 TATATTCATGTAATTAAGAAGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 103018908 103018909 103018909 upstr_intron -50 -0.7101449 TATATTCATGTAATTAAGAAGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT mutant NA NA NA NA NA 390 176 0.8006688 0.8 0.8003344 0.85 0.85 0.7333699 0.6841471 NA NA 0.06729887 0.1158529 0.85 0.7087585 NA 0.09157589 NA FALSE NA 0 -0.599 rs183504867 intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 7/64 rs183504867 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCT C,T 1.647e-05 1:103018909 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001753202 intron_variant -0.001825 0.15117 0.00737 0.053691 0.3655026 0.0448725 0.9999806 TRUE 8.27356e-06 ENSE00001753202_BRK ENSE00001753202 BRK 1 103484315 103484484 - 59 42 69 A,G; T,T NA NA NA TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATTTGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCACCATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT 103018758 103018928 NA NA NA NA NA NA TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATTTGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCACCATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT TATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAGGGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCAGTATGTAAATGTTTTAAGATTATTTTTGTCTATTTAAAGTAATCATATATAAGATTTCT control NA NA NA NA NA 12792 316 0.005381006 0.003052512 0.004216759 0.85 0.85 0.7333699 0.6841471 NA NA -0.7279889 -0.6810946 0.85 0.7087585 NA -0.7045417 NA TRUE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001753202 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001754106_000 ENSE00001754106 000 6 70811998 70812167 + 63 54 53 NA NA NA NA NA ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 NA NA NA NA NA NA TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT natural 41 96 0.9579867 0.985455 0.9717209 5579 3398 0.8760445 0.7340347 0.8050396 0.9579867 0.985455 0.8760445 0.7340347 0 0 0 0 0.9717209 0.8050396 0 0 0 FALSE FALSE NA NA NA NA NA RPL37P15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003721558 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001754106_003 ENSE00001754106 003 6 70811998 70812167 + 63 54 53 A G 70812018 1528 21 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCACTATATTTTAATATCAAACAA 70102105 70102275 70102125 70102126 70102126 upstr_intron -43 -0.6666667 TTGTTTGATATTAAAATATAGTGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 222 227 1 1 1 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1239555 0.2659653 0.9717209 0.8050396 NA 0.1949604 NA FALSE NA 0.006 -0.021 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA AAT A,G 8.238e-06 6:70102126 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant 0.725023 0.27861 0.0886 0.074636 0.5197854 0.545086 5.55032e-17 FALSE 8.15328e-06 ENSE00001754106_004 ENSE00001754106 004 6 70811998 70812167 + 63 54 53 G C 70812021 1529 24 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTGCATTATATTTTAATATCAAACAA 70102105 70102275 70102128 70102129 70102129 upstr_intron -40 -0.6190476 TTGTTTGATATTAAAATATAATGCAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 213 753 0.9668016 0.9992893 0.9830454 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.09075709 0.2652546 0.9717209 0.8050396 NA 0.1780058 NA FALSE NA 0.003 -0.262 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA GGA G,C 8.237e-06 6:70102129 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant 0.388099 0.1969 0.05799 0.074636 0.5783049 0.0672918 5.55032e-17 FALSE 8.15076e-06 ENSE00001754106_005 ENSE00001754106 005 6 70811998 70812167 + 63 54 53 A G 70812042 1530 45 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAACAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102149 70102150 70102150 upstr_intron -19 -0.2857143 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTGTTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 1270 496 1 1 1 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1239555 0.2659653 0.9717209 0.8050396 NA 0.1949604 NA FALSE NA 0 -0.716 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA TAT G,G 1.647e-05 6:70102150 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant -0.105012 0.08197 0.00201 0.074636 0.3837043 0.0673355 5.55032e-17 FALSE 8.13577e-06 ENSE00001754106_006 ENSE00001754106 006 6 70811998 70812167 + 63 54 53 C G 70812048 1531 51 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAACAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102155 70102156 70102156 upstr_intron -13 -0.1904762 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTGTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 664 332 1 0.9974376 0.9987188 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1239555 0.2634029 0.9717209 0.8050396 NA 0.1936792 NA FALSE NA 0.109 -0.033 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA TCT C,G 1.647e-05 6:70102156 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant -0.123849 0.18015 0.09439 0.074636 0.4918143 0.111926 5.55032e-17 FALSE 1.62701e-05 ENSE00001754106_010 ENSE00001754106 010 6 70811998 70812167 + 63 54 53 G A 70812068 1535 71 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTTGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102175 70102176 70102176 exon 8 0.1481481 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACAAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 503 24 0.9932285 1 0.9966143 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.117184 0.2659653 0.9717209 0.8050396 NA 0.1915747 NA FALSE NA 1 6.014 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 rs368176242 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGA G,A 8.237e-05 6:70102176 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 missense_variant 4.491368 0.98757 0.97262 0.553676 0.9920768 0 5.55032e-17 FALSE 6.91293e-05 ENSE00001754106_012 ENSE00001754106 012 6 70811998 70812167 + 63 54 53 C T 70812087 1537 90 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCAGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102194 70102195 70102195 exon 27 0.5 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCTGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 885 2391 0.9972178 0.9950755 0.9961467 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1211733 0.2610409 0.9717209 0.8050396 NA 0.1911071 NA FALSE NA 1 0.767 rs181253508 upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 rs181253508 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 CCG C,T 3.295e-05 6:70102195 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 synonymous_variant 2.101083 0.95006 0.40607 0.553676 0.7872196 0 5.55032e-17 FALSE 3.65996e-05 ENSE00001754106_013 ENSE00001754106 013 6 70811998 70812167 + 63 54 53 G A 70812088 1538 91 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCTGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102195 70102196 70102196 exon -27 0.5185185 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCAGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 435 1745 0.9931904 0.9972458 0.9952181 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1171459 0.2632111 0.9717209 0.8050396 NA 0.1901785 NA FALSE NA 1 6.014 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 rs574363456 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 2.471e-05 6:70102196 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 missense_variant 3.99716 0.98757 0.97262 0.638212 0.987726 0 5.55032e-17 FALSE 1.62668e-05 ENSE00001754106_015 ENSE00001754106 015 6 70811998 70812167 + 63 54 53 A G 70812093 1540 96 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGCTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102200 70102201 70102201 exon -22 0.6111111 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAGCCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 376 192 0.9925896 1 0.9962948 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1165451 0.2659653 0.9717209 0.8050396 NA 0.1912552 NA FALSE NA 1 1.296 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA AAC A,G 8.237e-06 6:70102201 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 synonymous_variant 0.78893 0.9655 0.79824 0.638212 0.7775979 0 5.55032e-17 FALSE 4.06603e-06 ENSE00001754106_016 ENSE00001754106 016 6 70811998 70812167 + 63 54 53 C G 70812095 1541 98 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTCGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102202 70102203 70102203 exon -20 0.6481481 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACGAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 477 337 1 0.9697389 0.9848695 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1239555 0.2357043 0.9717209 0.8050396 NA 0.1798299 NA FALSE NA 1 4.727 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 rs370683815&COSM3875195 1 NA G:0 G:0.0001 CCA C,G 8.237e-06 6:70102203 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 missense_variant 3.177888 0.98795 0.96992 0.638212 0.971879 0 5.55032e-17 FALSE 8.13352e-06 ENSE00001754106_017 ENSE00001754106 017 6 70811998 70812167 + 63 54 53 A G 70812099 1542 102 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGCCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102206 70102207 70102207 exon -16 0.7222222 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGGCCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 898 371 0.9995868 0.9995735 0.9995801 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1235423 0.2655388 0.9717209 0.8050396 NA 0.1945406 NA FALSE NA 0.287 -0.62 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA GAC A,G 2.471e-05 6:70102207 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 synonymous_variant 1.098721 0.95548 0.18625 0.638212 0.7343495 0 5.55032e-17 FALSE 1.22005e-05 ENSE00001754106_018 ENSE00001754106 018 6 70811998 70812167 + 63 54 53 C G 70812101 1543 104 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGCGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102208 70102209 70102209 exon -14 0.7592593 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACGCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 701 1000 0.9968145 0.985378 0.9910962 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.12077 0.2513433 0.9717209 0.8050396 NA 0.1860566 NA FALSE NA 1 4.727 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70102209 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 missense_variant 3.328559 0.98795 0.96992 0.638212 0.9711415 0 5.55032e-17 FALSE 4.06669e-06 ENSE00001754106_019 ENSE00001754106 019 6 70811998 70812167 + 63 54 53 C T 70812101 1544 104 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGAGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102208 70102209 70102209 exon -14 0.7592593 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACTCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 357 101 1 1 1 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1239555 0.2659653 0.9717209 0.8050396 NA 0.1949604 NA FALSE NA 1 4.727 NA NA NA RPL37P15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003721558 missense_variant 4.078066 0.98727 0.96244 0.638212 0.9647997 0 5.55032e-17 FALSE 1.22001e-05 ENSE00001754106_020 ENSE00001754106 020 6 70811998 70812167 + 63 54 53 C T 70812102 1545 105 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGAGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102209 70102210 70102210 exon -13 0.7777778 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCTCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 252 532 0.9782607 0.9963289 0.9872948 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1022161 0.2622942 0.9717209 0.8050396 NA 0.1822552 NA FALSE NA 0.998 0.347 rs147836767 upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 rs147836767 1 NA T:0 T:0.0001 CCC C,T 8.237e-06 6:70102210 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 synonymous_variant 2.23861 0.95803 0.50462 0.638212 0.8123403 0 5.55032e-17 FALSE 4.06659e-06 ENSE00001754106_021 ENSE00001754106 021 6 70811998 70812167 + 63 54 53 C A 70812103 1546 106 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGTGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102210 70102211 70102211 exon -12 0.7962963 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCACAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 258 1952 0.9909519 0.9954466 0.9931992 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1149074 0.2614119 0.9717209 0.8050396 NA 0.1881596 NA FALSE NA 1 3.197 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA CCC C,A 1.647e-05 6:70102211 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 missense_variant 3.023162 0.9807 0.93612 0.638212 0.9462537 0 5.55032e-17 FALSE 8.13292e-06 ENSE00001754106_022 ENSE00001754106 022 6 70811998 70812167 + 63 54 53 C T 70812112 1547 115 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGATGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102219 70102220 70102220 exon -3 0.962963 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCATCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 463 685 1 1 1 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1239555 0.2659653 0.9717209 0.8050396 NA 0.1949604 NA FALSE NA 0.98 4.727 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA ACC C,T 8.237e-06 6:70102220 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 missense_variant 3.303436 0.9871 0.96021 0.638212 0.960698 0 5.55032e-17 FALSE 8.13431e-06 ENSE00001754106_023 ENSE00001754106 023 6 70811998 70812167 + 63 54 53 A G 70812123 1548 126 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCATTGTATTGCTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102230 70102231 70102231 downstr_intron 9 1.173077 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAGCAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 816 2859 0.989918 0.8339861 0.9119521 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1138735 0.09995143 0.9717209 0.8050396 NA 0.1069125 NA FALSE NA 0.158 0.501 rs7772672 upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 rs7772672 1 A:0.1544 G:0.9909 G:0.8256 NA G:0.5486 G:0.9563 G:0.8558 G:0.9814 G:0.9378 AAC A,G 0.884 6:70102231 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant 0.882425 0.22111 0.1416 0.061011 0.6448471 0.14018 5.55032e-17 FALSE 0.877675 ENSE00001754106_024 ENSE00001754106 024 6 70811998 70812167 + 63 54 53 A G 70812131 1549 134 ACAGACATAAAGACAGACTCTTTAAAGGGACAGTCACTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102238 70102239 70102239 downstr_intron 17 1.326923 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAGTGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 245 784 0.9918279 0.9997982 0.9958131 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1157834 0.2657635 0.9717209 0.8050396 NA 0.1907735 NA FALSE NA 0 0.327 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA AAT A,G 8.237e-06 6:70102239 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant 0.138523 0.19218 0.12473 0.061011 0.3862707 0.082233 5.55032e-17 FALSE 8.13988e-06 ENSE00001754106_025 ENSE00001754106 025 6 70811998 70812167 + 63 54 53 A T 70812134 1550 137 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGTCTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT 70102105 70102275 70102241 70102242 70102242 downstr_intron 20 1.384615 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGTCTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 2758 1349 0.9703768 0.9982207 0.9842987 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.09433225 0.264186 0.9717209 0.8050396 NA 0.1792591 NA FALSE NA 0 -0.645 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA GAC A,T 8.237e-06 6:70102242 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant 0.061322 0.1758 0.01805 0.061011 0.6025287 0.082233 5.55032e-17 FALSE 8.142e-06 ENSE00001754106_026 ENSE00001754106 026 6 70811998 70812167 + 63 54 53 C G 70812135 1551 138 ACAGACATAAAGACAGACTCTTTAAAGGGACACTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102242 70102243 70102243 downstr_intron 21 1.403846 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGAGTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 63 121 1 0.9268936 0.9634468 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1239555 0.1928589 0.9717209 0.8050396 NA 0.1584072 NA FALSE NA 0 0.013 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA ACT C,G 3.295e-05 6:70102243 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant 0.221206 0.23905 0.12805 0.061011 0.3891888 0.082233 5.55032e-17 FALSE 1.22139e-05 ENSE00001754106_027 ENSE00001754106 027 6 70811998 70812167 + 63 54 53 T C 70812136 1552 139 ACAGACATAAAGACAGACTCTTTAAAGGGACGGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102243 70102244 70102244 downstr_intron 22 1.423077 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACCGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 260 374 0.9985667 0.9991818 0.9988742 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1225222 0.2651471 0.9717209 0.8050396 NA 0.1938346 NA FALSE NA 0 0.072 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 rs368409453 1 NA C:0 C:0.0001 CTG T,C 1.647e-05 6:70102244 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant 0.093324 0.17833 0.03563 0.061011 0.4643642 0.082233 5.55032e-17 FALSE 2.44369e-05 ENSE00001754106_028 ENSE00001754106 028 6 70811998 70812167 + 63 54 53 C G 70812141 1553 144 ACAGACATAAAGACAGACTCTTTAAACGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102248 70102249 70102249 downstr_intron 27 1.519231 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCGTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 571 1228 0.9991319 0.9992214 0.9991767 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1230874 0.2651868 0.9717209 0.8050396 NA 0.1941371 NA FALSE NA 0 -0.779 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA CCT C,G 8.237e-06 6:70102249 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant 0.252042 0.22123 0.09988 0.061011 0.5404416 0.0443698 5.55032e-17 FALSE 4.07428e-06 ENSE00001754106_029 ENSE00001754106 029 6 70811998 70812167 + 63 54 53 T C 70812157 1554 160 ACAGACATAAGGACAGACTCTTTAAAGGGACAGTCATTGTATTGTTTACTCACAGGTGGTCCTGGGGGTCCTGGTTTTCCGGGAGGTCCTGTTTTCCCTCGTCTTCCCTTGAAACCAAAGAAGAATAGATGATAAATACTGTGACTCCATTATATTTTAATATCAAACAA 70102105 70102275 70102264 70102265 70102265 downstr_intron 43 1.826923 TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCCTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT mutant NA NA NA NA NA 816 2192 1 0.9990545 0.9995273 0.9579867 0.985455 0.8760445 0.7340347 NA NA 0.1239555 0.2650198 0.9717209 0.8050396 NA 0.1944877 NA FALSE NA 0.001 1.098 . upstream_gene_variant MODIFIER RPL37P15 HGNC 36659 ENST00000404509 1 NA CTT T,C 8.238e-06 6:70102265 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003721558 intron_variant -0.08678 0.19936 0.17345 0.061011 0.6724706 0.044906 5.55032e-17 FALSE 4.0816e-06 ENSE00001754106_BRK ENSE00001754106 BRK 6 70811998 70812167 + 63 54 53 A,G; T,T NA NA NA TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCATTGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTCCGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT 70102105 70102275 NA NA NA NA NA NA TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCATTGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTCCGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT TTGTTTGATATTAAAATATAATGGAGTCACAGTATTTATCATCTATTCTTCTTTGGTTTCAAGGGAAGACGAGGGAAAACAGGACCTCCCGGAAAACCAGGACCCCCAGGACCACCTGTGAGTAAACAATACAATGACTGTCCCTTTAAAGAGTCTGTCTTTATGTCTGT control 84 192 0 0 0 225 596 0 0.04414673 0.02207336 0.9579867 0.985455 0.8760445 0.7340347 -0.9579867 -0.985455 -0.8760445 -0.689888 0.9717209 0.8050396 -0.9717209 -0.7829662 0.1887546 TRUE TRUE NA NA NA NA NA RPL37P15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003721558 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001754108_000 ENSE00001754108 000 4 114179428 114179597 + 41 99 30 NA NA NA NA NA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 NA NA NA NA NA NA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA natural 199 184 0.85 0.8260038 0.8380019 1671 1233 0.9770531 0.9710832 0.9740681 0.85 0.8260038 0.9770531 0.9710832 0 0 0 0 0.8380019 0.9740681 0 0 0 FALSE FALSE NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002449934 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001754108_002 ENSE00001754108 002 4 114179428 114179597 + 41 99 30 G T 114179439 1390 12 CCGGTGCAGAGTAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258282 113258283 113258283 upstr_intron -30 -0.7073171 CCGGTGCAGAGTAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 43 141 0.999039 0.9997296 0.9993843 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.02198592 0.02864641 0.8380019 0.9740681 NA 0.02531617 NA FALSE NA 1 6.731 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 13/46 1 NA GGA G,T 8.236e-06 4:113258283 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 intron_variant 2.096502 0.99002 0.99402 0.061011 0.8031249 0.981111 1 TRUE 4.06273e-06 ENSE00001754108_003 ENSE00001754108 003 4 114179428 114179597 + 41 99 30 G A 114179441 1391 14 CCGGTGCAGAGGAATAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258284 113258285 113258285 upstr_intron -28 -0.6585366 CCGGTGCAGAGGAATAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 47 146 0.9620597 0.9544047 0.9582322 0.85 0.8260038 0.9770531 0.9710832 NA NA -0.01499334 -0.01667848 0.8380019 0.9740681 NA -0.01583591 NA FALSE NA 1 6.731 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 13/46 1 NA AGT G,A 8.236e-06 4:113258285 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 intron_variant 2.302494 0.98865 0.99211 0.061011 0.7978024 0.980719 1 TRUE 4.06283e-06 ENSE00001754108_005 ENSE00001754108 005 4 114179428 114179597 + 41 99 30 G A 114179460 1393 33 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTATTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258303 113258304 113258304 upstr_intron -9 -0.195122 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTATTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 13 71 0.9545969 0.95 0.9522985 0.85 0.8260038 0.9770531 0.9710832 NA NA -0.02245612 -0.02108322 0.8380019 0.9740681 NA -0.02176967 NA FALSE NA 1 2.26 rs72556374 intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 13/46 rs72556374 1 NA TGT G,A 8.236e-06 4:113258304 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 intron_variant 2.064489 0.98436 0.95082 0.061011 0.8185315 0.977665 1 TRUE 2.43766e-05 ENSE00001754108_006 ENSE00001754108 006 4 114179428 114179597 + 41 99 30 C T 114179464 1394 37 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTTGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258307 113258308 113258308 upstr_intron -5 -0.09756098 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTTGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 43 494 1 0.9989922 0.9994961 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.02294693 0.02790895 0.8380019 0.9740681 NA 0.02542794 NA FALSE NA 1 4.293 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000506722 13/46 rs370897593&COSM3945890&COSM3945891 1 NA T:0 T:0.0001 TCG C,T 4.118e-05 4:113258308 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 splice_region_variant 2.159829 0.99487 0.94241 0 0.9790072 0.982562 1 TRUE 3.24997e-05 ENSE00001754108_007 ENSE00001754108 007 4 114179428 114179597 + 41 99 30 G A 114179465 1395 38 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCACAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258308 113258309 113258309 upstr_intron -4 -0.07317073 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCACAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 98 301 1 0.9994927 0.9997463 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.02294693 0.02840943 0.8380019 0.9740681 NA 0.02567818 NA FALSE NA 0.996 0.39 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000506722 13/46 1 NA CGC G,A 1.647e-05 4:113258309 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 splice_region_variant 1.56329 0.98128 0.84136 0 0.7676718 0.863865 1 TRUE 1.21889e-05 ENSE00001754108_010 ENSE00001754108 010 4 114179428 114179597 + 41 99 30 T C 114179489 1398 62 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACACGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258332 113258333 113258333 exon 21 0.2121212 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACACGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 904 30 0.9837317 1 0.9918658 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.006678581 0.02891678 0.8380019 0.9740681 NA 0.01779768 NA FALSE NA 0.996 0.382 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 14/47 1 NA ATG T,C 8.236e-06 4:113258333 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 synonymous_variant -0.285035 0.97368 0.7038 0.632932 0.6174069 0 1 TRUE 4.06273e-06 ENSE00001754108_011 ENSE00001754108 011 4 114179428 114179597 + 41 99 30 G A 114179490 1399 63 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATATGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258333 113258334 113258334 exon 22 0.2222222 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATATGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 188 601 1 0.9999367 0.9999683 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.02294693 0.02885343 0.8380019 0.9740681 NA 0.02590018 NA FALSE NA 1 9.826 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 14/47 1 deleterious(0) probably_damaging(0.947) NA TGT G,A 1.647e-05 4:113258334 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 missense_variant 6.034757 0.99608 0.99237 0.632932 0.9992345 0 1 TRUE 8.12599e-06 ENSE00001754108_014 ENSE00001754108 014 4 114179428 114179597 + 41 99 30 T C 114179528 1402 101 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTCCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258371 113258372 113258372 exon -40 0.6060606 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTCCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 844 439 0.9967868 0.9885335 0.9926602 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.01973376 0.01745028 0.8380019 0.9740681 NA 0.01859202 NA FALSE NA 0.999 0.35 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 14/47 1 NA TTC T,C 8.236e-06 4:113258372 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 synonymous_variant -0.323986 0.97687 0.83192 0.632932 0.7998805 0 1 TRUE 4.06339e-06 ENSE00001754108_018 ENSE00001754108 018 4 114179428 114179597 + 41 99 30 T C 114179555 1406 128 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGACGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258398 113258399 113258399 exon -13 0.8787879 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGACGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 337 223 0.9982777 0.9992901 0.9987839 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.02122464 0.02820691 0.8380019 0.9740681 NA 0.02471577 NA FALSE NA 1 2.262 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 14/47 1 NA ATG T,C 8.236e-06 4:113258399 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 synonymous_variant -0.159307 0.98115 0.8597 0.632932 0.5515483 0 1 TRUE 4.06527e-06 ENSE00001754108_020 ENSE00001754108 020 4 114179428 114179597 + 41 99 30 A G 114179559 1408 132 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCGCTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258402 113258403 113258403 exon -9 0.9191919 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCGCTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 443 138 0.9985982 0.977408 0.9880031 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.02154508 0.006324812 0.8380019 0.9740681 NA 0.01393494 NA FALSE NA 1 3.011 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 14/47 rs368129159 1 tolerated(0.11) benign(0.205) NA G:0 G:0.0001 CAC A,G 8.236e-06 4:113258403 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 missense_variant 1.860947 0.98536 0.93019 0.632932 0.9668973 0 1 TRUE 4.06603e-06 ENSE00001754108_021 ENSE00001754108 021 4 114179428 114179597 + 41 99 30 C T 114179560 1409 133 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCATTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA 113258271 113258441 113258403 113258404 113258404 exon -8 0.9292929 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCATTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 302 221 0.9540616 0.9628349 0.9584483 0.85 0.8260038 0.9770531 0.9710832 NA NA -0.02299149 -0.008248277 0.8380019 0.9740681 NA -0.01561989 NA FALSE NA 1 4.979 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 14/47 rs370499460 1 tolerated(0.07) benign(0.033) NA T:0.0002 T:0 ACT C,T 8.236e-06 4:113258404 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 missense_variant 3.014843 0.988 0.92263 0.632932 0.995785 0 1 TRUE 4.06577e-06 ENSE00001754108_022 ENSE00001754108 022 4 114179428 114179597 + 41 99 30 C T 114179578 1410 151 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGTTTGGGTCAGAATAACCCCA 113258271 113258441 113258421 113258422 113258422 downstr_intron 11 1.37931 CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGTTTGGGTCAGAATAACCCCA CCGGTGCAGAGGAGTAAAACTGCTGTTGCTTTGTTTCGCAGTCTGGCCTCACACCAATACATGTGGCTGCCTTCATGGGCCACTTGAACATTGTCCTCCTTCTGCTGCAGAACGGAGCCTCTCCAGATGTCACTAACATTGTGAGTATGGCTTGGGTCAGAATAACCCCA mutant NA NA NA NA NA 594 86 0.9852659 0.9916155 0.9884407 0.85 0.8260038 0.9770531 0.9710832 NA NA 0.008212844 0.02053224 0.8380019 0.9740681 NA 0.01437254 NA FALSE NA 1 2.531 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000506722 14/46 1 NA GCT C,T 8.236e-06 4:113258422 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002449934 intron_variant 2.154099 0.98845 0.87423 0.061011 0.7958318 0.776166 1 TRUE 4.06875e-06 ENSE00001754331_000 ENSE00001754331 000 3 33419527 33419696 + 68 45 57 NA NA NA NA NA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 NA NA NA NA NA NA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA natural 22 14 0.9953774 1 0.9976887 1121 1555 0.9573098 0.9794831 0.9683965 0.9953774 1 0.9573098 0.9794831 0 0 0 0 0.9976887 0.9683965 0 0 0 FALSE FALSE NA NA NA NA NA FBXL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXL2 NA NA NA ENSG00000153558 ENSE00003655046 NA NA NA NA NA NA NA 0.2164791 FALSE NA ENSE00001754331_002 ENSE00001754331 002 3 33419527 33419696 + 68 45 57 C T 33419556 446 30 AGGGCAAGCCACCATTGTTGCTGTCACCATTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378063 33378064 33378064 upstr_intron -39 -0.5588235 AGGGCAAGCCACCATTGTTGCTGTCACCATTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 126 215 1 0.9091067 0.9545533 0.9953774 1 0.9573098 0.9794831 NA NA 0.04269023 -0.07037645 0.9976887 0.9683965 NA -0.01384311 NA FALSE NA 0.002 0.394 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 9/12 1 NA ACT C,T 8.236e-06 3:33378064 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 0.395352 0.1754 0.03178 0.067858 0.5900628 0.0830593 0.2164791 FALSE 4.06418e-06 ENSE00001754331_003 ENSE00001754331 003 3 33419527 33419696 + 68 45 57 C T 33419560 447 34 AGGGCAAGCCACCATTGTTGCTGTCACCACTGATTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378067 33378068 33378068 upstr_intron -35 -0.5 AGGGCAAGCCACCATTGTTGCTGTCACCACTGATTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 95 348 1 0.9995453 0.9997726 0.9953774 1 0.9573098 0.9794831 NA NA 0.04269023 0.02006212 0.9976887 0.9683965 NA 0.03137617 NA FALSE NA 0 -0.537 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 9/12 1 NA ACT C,T 0.0002965 3:33378068 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 0.508432 0.21057 0.06178 0.067858 0.7307518 0.0830593 0.2164791 FALSE 0.000394197 ENSE00001754331_005 ENSE00001754331 005 3 33419527 33419696 + 68 45 57 T C 33419579 449 53 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCCTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378086 33378087 33378087 upstr_intron -16 -0.2205882 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCCTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 315 92 0.9977576 1 0.9988788 0.9953774 1 0.9573098 0.9794831 NA NA 0.04044785 0.02051685 0.9976887 0.9683965 NA 0.03048235 NA FALSE NA 0.066 0.661 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 9/12 rs375411206 1 NA C:0.0002 C:0 CTT T,C 2.471e-05 3:33378087 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 1.599193 0.457 0.30728 0.067858 0.9209102 0.312009 0.2164791 FALSE 1.62488e-05 ENSE00001754331_006 ENSE00001754331 006 3 33419527 33419696 + 68 45 57 T C 33419580 450 54 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTCGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378087 33378088 33378088 upstr_intron -15 -0.2058824 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTCGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 12 338 1 0.9998873 0.9999437 0.9953774 1 0.9573098 0.9794831 NA NA 0.04269023 0.02040418 0.9976887 0.9683965 NA 0.0315472 NA FALSE NA 0.012 -0.008 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 9/12 1 NA TTG T,C 1.647e-05 3:33378088 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 1.633665 0.28685 0.1996 0.067858 0.8891395 0.312009 0.2164791 FALSE 2.03112e-05 ENSE00001754331_007 ENSE00001754331 007 3 33419527 33419696 + 68 45 57 T C 33419582 451 56 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGCGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378089 33378090 33378090 upstr_intron -13 -0.1764706 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGCGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 407 1064 0.9430302 0.9999642 0.9714972 0.9953774 1 0.9573098 0.9794831 NA NA -0.01427958 0.02048108 0.9976887 0.9683965 NA 0.003100747 NA FALSE NA 0.676 0.412 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 9/12 1 NA GTG T,C 8.236e-06 3:33378090 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 1.88733 0.82618 0.4602 0.067858 0.8764836 0.395109 0.2164791 FALSE 4.06227e-06 ENSE00001754331_009 ENSE00001754331 009 3 33419527 33419696 + 68 45 57 G A 33419604 453 78 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACAAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378111 33378112 33378112 exon 10 0.2222222 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACAAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 259 71 1 0.9977659 0.998883 0.9953774 1 0.9573098 0.9794831 NA NA 0.04269023 0.01828278 0.9976887 0.9683965 NA 0.03048651 NA FALSE NA 1 9.67 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 10/13 1 NA CGA G,A 8.236e-06 3:33378112 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 missense_variant 3.534907 0.97292 0.97779 0.67177 0.9901631 0 0.2164791 FALSE 8.12394e-06 ENSE00001754331_011 ENSE00001754331 011 3 33419527 33419696 + 68 45 57 G A 33419647 455 121 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGAACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378154 33378155 33378155 downstr_intron 8 1.142857 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGAACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 157 1322 1 0.9963564 0.9981782 0.9953774 1 0.9573098 0.9794831 NA NA 0.04269023 0.01687324 0.9976887 0.9683965 NA 0.02978173 NA FALSE NA 0.118 0.353 rs115776724 splice_region_variant&intron_variant&NMD_transcript_variant LOW FBXL2 HGNC 13598 ENST00000432809 10/12 rs115776724 1 A:0.0050 A:0.0174 A:0.0029 NA A:0 A:0 A:0 A:0.02 A:0 GGA G,A 0.001787 3:33378155 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 splice_region_variant 0.162704 0.26587 0.12789 0.069865 0.5988539 0.332243 0.2164791 FALSE 0.00145069 ENSE00001754331_013 ENSE00001754331 013 3 33419527 33419696 + 68 45 57 T G 33419653 457 127 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCGGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378160 33378161 33378161 downstr_intron 14 1.25 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCGGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 250 150 0.9975043 1 0.9987522 0.9953774 1 0.9573098 0.9794831 NA NA 0.04019454 0.02051685 0.9976887 0.9683965 NA 0.0303557 NA FALSE NA 0 -0.545 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 10/12 1 NA CTG T,G 8.237e-06 3:33378161 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 0.105926 0.21424 0.10011 0.069865 0.7025939 0.173831 0.2164791 FALSE 4.06398e-06 ENSE00001754331_015 ENSE00001754331 015 3 33419527 33419696 + 68 45 57 G C 33419658 459 132 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACACCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378165 33378166 33378166 downstr_intron 19 1.339286 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACACCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 65 38 1 1 1 0.9953774 1 0.9573098 0.9794831 NA NA 0.04269023 0.02051685 0.9976887 0.9683965 NA 0.03160354 NA FALSE NA 0 -0.075 NA NA NA FBXL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:33378166 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 0.129082 0.28327 0.10325 0.069865 0.6548908 0.203214 0.2164791 FALSE 4.06501e-06 ENSE00001754331_017 ENSE00001754331 017 3 33419527 33419696 + 68 45 57 G C 33419675 461 149 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTCCTCCTTAGTCATTGCTGGCCA 33378034 33378204 33378182 33378183 33378183 downstr_intron 36 1.642857 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTCCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 142 132 1 0.9988 0.9994 0.9953774 1 0.9573098 0.9794831 NA NA 0.04269023 0.01931683 0.9976887 0.9683965 NA 0.03100353 NA FALSE NA 0 -0.672 rs114334147 intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 10/12 rs114334147 1 C:0.0138 C:0.0477 C:0.0086 NA C:0 C:0 C:0 C:0.0445 C:0 TGC G,C 0.00411 3:33378183 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 0.070686 0.20873 0.02683 0.069865 0.7478934 0.203214 0.2164791 FALSE 0.00328053 ENSE00001754331_019 ENSE00001754331 019 3 33419527 33419696 + 68 45 57 C G 33419679 463 153 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCGTTAGTCATTGCTGGCCA 33378034 33378204 33378186 33378187 33378187 downstr_intron 40 1.714286 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCGTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 355 399 0.9906728 1 0.9953364 0.9953774 1 0.9573098 0.9794831 NA NA 0.03336298 0.02051685 0.9976887 0.9683965 NA 0.02693992 NA FALSE NA 0 0.621 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 10/12 1 NA CCT C,G 8.236e-06 3:33378187 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 0.091027 0.19008 0.21477 0.069865 0.6425089 0.203214 0.2164791 FALSE 4.07073e-06 ENSE00001754331_020 ENSE00001754331 020 3 33419527 33419696 + 68 45 57 C T 33419685 464 159 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTTATTGCTGGCCA 33378034 33378204 33378192 33378193 33378193 downstr_intron 46 1.821429 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTTATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 52 991 1 0.9951706 0.9975853 0.9953774 1 0.9573098 0.9794831 NA NA 0.04269023 0.01568742 0.9976887 0.9683965 NA 0.02918882 NA FALSE NA 0 0.923 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 10/12 1 NA TCA C,T 1.647e-05 3:33378193 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant 0.338363 0.21236 0.16466 0.069865 0.6289977 0.157338 0.2164791 FALSE 1.22279e-05 ENSE00001754331_021 ENSE00001754331 021 3 33419527 33419696 + 68 45 57 A C 33419686 465 160 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCCTTGCTGGCCA 33378034 33378204 33378193 33378194 33378194 downstr_intron 47 1.839286 AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCCTTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA mutant NA NA NA NA NA 281 26 0.9709557 0.9783908 0.9746733 0.9953774 1 0.9573098 0.9794831 NA NA 0.01364592 -0.001092332 0.9976887 0.9683965 NA 0.006276796 NA FALSE NA 0 -2.927 . intron_variant&NMD_transcript_variant MODIFIER FBXL2 HGNC 13598 ENST00000432809 10/12 1 NA CAT A,C 8.236e-06 3:33378194 FBXL2 HGNC Symbol protein_coding 126637 ENSG00000153558 ENSE00003655046 intron_variant -0.202052 0.18191 0.08262 0.069865 0.6720024 0.157338 0.2164791 FALSE 4.07481e-06 ENSE00001754331_BRK ENSE00001754331 BRK 3 33419527 33419696 + 68 45 57 A,G; T,T NA NA NA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCTTAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGCCGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA 33378034 33378204 NA NA NA NA NA NA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCTTAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGCCGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA AGGGCAAGCCACCATTGTTGCTGTCACCACTGACTCACATGTGGGGTGTGTCTTGTGGACTCTTCCAGAATTGCCACGAATTGGAGAAGATGGATCTTGAAGAATGCATCCTGGTGAGTGGACTCCTGACAGCCCTGCAGGGCAGCCTGCTCCTTAGTCATTGCTGGCCA control 226 101 0 0 0 NA NA NA NA NA 0.9953774 1 0.9573098 0.9794831 -0.9953774 -1 NA NA 0.9976887 0.9683965 -0.9976887 NA NA NA TRUE NA NA NA NA NA FBXL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBXL2 NA NA NA ENSG00000153558 ENSE00003655046 NA NA NA NA NA NA NA 0.2164791 FALSE NA ENSE00001754439_000 ENSE00001754439 000 9 131859481 131859650 - 48 63 59 NA NA NA NA NA TGGCTGACACTAAGGGACAAGTGAGTAGGCACAAGCGGGCTCACTTACCCGGTCGGTGTAGCCTCGGTGGGCCTGCACGGCCTTCCGCAGCAGCTCCACCTTCTGGTGCTCCTAGAGTGGTGAGGGTCAGAGGGAGCTGAAGCACTGTCCCTTCTCTTCTGGCCCACCTC 129097201 129097371 NA NA NA NA NA NA GAGGTGGGCCAGAAGAGAAGGGACAGTGCTTCAGCTCCCTCTGACCCTCACCACTCTAGGAGCACCAGAAGGTGGAGCTGCTGCGGAAGGCCGTGCAGGCCCACCGAGGCTACACCGACCGGGTAAGTGAGCCCGCTTGTGCCTACTCACTTGTCCCTTAGTGTCAGCCA GAGGTGGGCCAGAAGAGAAGGGACAGTGCTTCAGCTCCCTCTGACCCTCACCACTCTAGGAGCACCAGAAGGTGGAGCTGCTGCGGAAGGCCGTGCAGGCCCACCGAGGCTACACCGACCGGGTAAGTGAGCCCGCTTGTGCCTACTCACTTGTCCCTTAGTGTCAGCCA natural 210 198 0.85 0.8221555 0.8360777 75 133 0.8625954 0.9915835 0.9270895 0.85 0.8221555 0.8625954 0.9915835 0 0 0 0 0.8360777 0.9270895 0 0 0 FALSE FALSE NA NA NA NA NA CRAT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CRAT NA NA NA ENSG00000095321 ENSE00003551585 NA NA NA NA NA NA NA 3.457908e-07 FALSE NA ENSE00001754439_007 ENSE00001754439 007 9 131859481 131859650 - 48 63 59 C T 131859545 2968 106 TGGCTGACACTAAGGGACAAGTGAGTAGGCACAAGCGGGCTCACTTACCCGGTCGGTGTAGCCTTGGTGGGCCTGCACGGCCTTCCGCAGCAGCTCCACCTTCTGGTGCTCCTAGAGTGGTGAGGGTCAGAGGGAGCTGAAGCACTGTCCCTTCTCTTCTGGCCCACCTC 129097201 129097371 129097265 129097266 129097266 exon -17 0.7460317 GAGGTGGGCCAGAAGAGAAGGGACAGTGCTTCAGCTCCCTCTGACCCTCACCACTCTAGGAGCACCAGAAGGTGGAGCTGCTGCGGAAGGCCGTGCAGGCCCACCAAGGCTACACCGACCGGGTAAGTGAGCCCGCTTGTGCCTACTCACTTGTCCCTTAGTGTCAGCCA GAGGTGGGCCAGAAGAGAAGGGACAGTGCTTCAGCTCCCTCTGACCCTCACCACTCTAGGAGCACCAGAAGGTGGAGCTGCTGCGGAAGGCCGTGCAGGCCCACCGAGGCTACACCGACCGGGTAAGTGAGCCCGCTTGTGCCTACTCACTTGTCCCTTAGTGTCAGCCA mutant NA NA NA NA NA 13 17 1 1 1 0.85 0.8221555 0.8625954 0.9915835 NA NA 0.1374046 0.008416456 0.8360777 0.9270895 NA 0.07291054 NA FALSE NA 0.994 2.373 . downstream_gene_variant MODIFIER CRAT HGNC 2342 ENST00000464290 rs372470432 1 NA T:0.0005 T:0 TCG C,T 5.156e-05 9:129097266 CRAT HGNC Symbol protein_coding 16379 ENSG00000095321 ENSE00003551585 missense_variant 4.445977 0.96709 0.87529 0.77792 0.9968835 0 3.457908e-07 FALSE 4.22104e-05 ENSE00001754439_013 ENSE00001754439 013 9 131859481 131859650 - 48 63 59 T C 131859575 2974 76 TGGCTGACACTAAGGGACAAGTGAGTAGGCACAAGCGGGCTCACTTACCCGGTCGGTGTAGCCTCGGTGGGCCTGCACGGCCTTCCGCAGCAGCCCCACCTTCTGGTGCTCCTAGAGTGGTGAGGGTCAGAGGGAGCTGAAGCACTGTCCCTTCTCTTCTGGCCCACCTC 129097201 129097371 129097295 129097296 129097296 exon 17 0.2698413 GAGGTGGGCCAGAAGAGAAGGGACAGTGCTTCAGCTCCCTCTGACCCTCACCACTCTAGGAGCACCAGAAGGTGGGGCTGCTGCGGAAGGCCGTGCAGGCCCACCGAGGCTACACCGACCGGGTAAGTGAGCCCGCTTGTGCCTACTCACTTGTCCCTTAGTGTCAGCCA GAGGTGGGCCAGAAGAGAAGGGACAGTGCTTCAGCTCCCTCTGACCCTCACCACTCTAGGAGCACCAGAAGGTGGAGCTGCTGCGGAAGGCCGTGCAGGCCCACCGAGGCTACACCGACCGGGTAAGTGAGCCCGCTTGTGCCTACTCACTTGTCCCTTAGTGTCAGCCA mutant NA NA NA NA NA 24 350 0.1069422 0 0.05347112 0.85 0.8221555 0.8625954 0.9915835 NA NA -0.7556531 -0.9915835 0.8360777 0.9270895 NA -0.8736183 NA TRUE NA 0.978 1.912 . downstream_gene_variant MODIFIER CRAT HGNC 2342 ENST00000464290 1 NA CTC T,C 8.581e-06 9:129097296 CRAT HGNC Symbol protein_coding 16379 ENSG00000095321 ENSE00003551585 missense_variant 2.735125 0.92435 0.83159 0.77792 0.9940177 0 3.457908e-07 FALSE NA ENSE00001755928_000 ENSE00001755928 000 9 137648548 137648717 + 63 54 53 NA NA NA NA NA GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 NA NA NA NA NA NA GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT natural 76 41 0.9559236 0.9936076 0.9747656 1187 981 1 0.9953081 0.9976541 0.9559236 0.9936076 1 0.9953081 0 0 0 0 0.9747656 0.9976541 0 0 0 FALSE FALSE NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001755928 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001755928_003 ENSE00001755928 003 9 137648548 137648717 + 63 54 53 G A 137648570 3535 23 GGCCCGGGGGTCTCAGTGAACCAGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756723 134756724 134756724 upstr_intron -41 -0.6349206 GGCCCGGGGGTCTCAGTGAACCAGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 71 679 1 0.9892702 0.9946351 0.9559236 0.9936076 1 0.9953081 NA NA 0 -0.006037909 0.9747656 0.9976541 NA -0.003018954 NA FALSE NA 0 -0.3 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 16/65 1 NA CGG G 8.237e-06 9:134756724 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 intron_variant -0.556771 0.08534 0.01931 0.062308 0.7926944 0.0533271 1 TRUE 1.62479e-05 ENSE00001755928_004 ENSE00001755928 004 9 137648548 137648717 + 63 54 53 C T 137648588 3536 41 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGATGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756741 134756742 134756742 upstr_intron -23 -0.3492063 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGATGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 300 52 1 1 1 0.9559236 0.9936076 1 0.9953081 NA NA 0 0.004691893 0.9747656 0.9976541 NA 0.002345947 NA FALSE NA 0 0.182 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 16/65 rs375072301 1 NA T:0 T:0.0001 ACG C 2.471e-05 9:134756742 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 intron_variant 1.141339 0.22111 0.08992 0.062308 0.8088346 0.610786 1 TRUE 2.03052e-05 ENSE00001755928_005 ENSE00001755928 005 9 137648548 137648717 + 63 54 53 G C 137648589 3537 42 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACCGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756742 134756743 134756743 upstr_intron -22 -0.3333333 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACCGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 112 344 1 0.9994289 0.9997144 0.9559236 0.9936076 1 0.9953081 NA NA 0 0.004120777 0.9747656 0.9976541 NA 0.002060388 NA FALSE NA 0 -1.407 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134756743 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 intron_variant 0.222592 0.09987 0.0058 0.062308 0.744017 0.0943135 1 TRUE 4.06105e-06 ENSE00001755928_008 ENSE00001755928 008 9 137648548 137648717 + 63 54 53 C T 137648599 3540 52 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTTCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756752 134756753 134756753 upstr_intron -12 -0.1746032 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTTCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 130 121 0.9294846 0.9986907 0.9640877 0.9559236 0.9936076 1 0.9953081 NA NA -0.07051538 0.003382591 0.9747656 0.9976541 NA -0.03356639 NA FALSE NA 0 -0.295 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 16/65 1 NA TCC C 8.237e-06 9:134756753 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 intron_variant 1.948258 0.29356 0.03916 0.062308 0.8263436 0.260329 1 TRUE 1.21822e-05 ENSE00001755928_009 ENSE00001755928 009 9 137648548 137648717 + 63 54 53 C T 137648600 3541 53 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCTTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756753 134756754 134756754 upstr_intron -11 -0.1587302 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCTTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 863 248 0.9936743 0.99703 0.9953522 0.9559236 0.9936076 1 0.9953081 NA NA -0.006325662 0.001721911 0.9747656 0.9976541 NA -0.002301875 NA FALSE NA 0.024 1.209 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134756754 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 intron_variant 1.946127 0.42807 0.12858 0.062308 0.8350873 0.277693 1 TRUE 8.12156e-06 ENSE00001755928_010 ENSE00001755928 010 9 137648548 137648717 + 63 54 53 C G 137648600 3542 53 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCGTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756753 134756754 134756754 upstr_intron -11 -0.1587302 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCGTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 985 3049 0.9963059 0.999386 0.997846 0.9559236 0.9936076 1 0.9953081 NA NA -0.00369405 0.004077934 0.9747656 0.9976541 NA 0.0001919419 NA FALSE NA 0.024 1.209 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001755928 intron_variant 1.855906 0.49466 0.47722 0.062308 0.7996366 0.277693 1 TRUE 4.06078e-06 ENSE00001755928_011 ENSE00001755928 011 9 137648548 137648717 + 63 54 53 C G 137648608 3543 61 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCGAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756761 134756762 134756762 upstr_intron -3 -0.03174603 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCGAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 26 1015 0 0.04564706 0.02282353 0.9559236 0.9936076 1 0.9953081 NA NA -1 -0.949661 0.9747656 0.9976541 NA -0.9748305 NA TRUE NA 0.932 0.781 . splice_region_variant&intron_variant LOW COL5A1 HGNC 2209 ENST00000371817 16/65 rs369608154 1 NA G:0 G:0.0001 CCA C 8.237e-06 9:134756762 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 splice_region_variant 2.16373 0.9775 0.82554 0.156188 0.9386141 0.971305 1 TRUE 4.06088e-06 ENSE00001755928_012 ENSE00001755928 012 9 137648548 137648717 + 63 54 53 C T 137648614 3544 67 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTTGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756767 134756768 134756768 exon 4 0.07407407 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTTGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 177 340 1 1 1 0.9559236 0.9936076 1 0.9953081 NA NA 0 0.004691893 0.9747656 0.9976541 NA 0.002345947 NA FALSE NA 1 4.847 rs147329970 missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 17/66 rs147329970 1 probably_damaging(0.999) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0003 TCG C 9.884e-05 9:134756768 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 missense_variant 7.921703 0.98302 0.9577 0.706548 0.9970883 0 1 TRUE 7.30959e-05 ENSE00001755928_013 ENSE00001755928 013 9 137648548 137648717 + 63 54 53 G A 137648615 3545 68 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCAGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756768 134756769 134756769 exon 5 0.09259259 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCAGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 121 2136 1 0.9991892 0.9995946 0.9559236 0.9936076 1 0.9953081 NA NA 0 0.003881077 0.9747656 0.9976541 NA 0.001940538 NA FALSE NA 1 8.266 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 17/66 rs200590188 1 probably_damaging(0.996) NA CGG G 8.237e-06 9:134756769 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 missense_variant 7.644771 0.99003 0.98429 0.706548 0.9989416 0 1 TRUE 1.21824e-05 ENSE00001755928_014 ENSE00001755928 014 9 137648548 137648717 + 63 54 53 G T 137648616 3546 69 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGTGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756769 134756770 134756770 exon 6 0.1111111 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGTGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 357 624 1 0.9993878 0.9996939 0.9559236 0.9936076 1 0.9953081 NA NA 0 0.004079668 0.9747656 0.9976541 NA 0.002039834 NA FALSE NA 0.001 -1.616 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134756770 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 synonymous_variant 1.043147 0.22833 0.01848 0.706548 0.71322 0 1 TRUE 2.03036e-05 ENSE00001755928_016 ENSE00001755928 016 9 137648548 137648717 + 63 54 53 C T 137648654 3548 107 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAATTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756807 134756808 134756808 exon -11 0.8148148 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAATTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 32 41 1 1 1 0.9559236 0.9936076 1 0.9953081 NA NA 0 0.004691893 0.9747656 0.9976541 NA 0.002345947 NA FALSE NA 0.86 6.548 . missense_variant MODERATE COL5A1 HGNC 2209 ENST00000371817 17/66 1 probably_damaging(0.994) NA ACT C 8.237e-06 9:134756808 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 missense_variant 4.769061 0.96786 0.95153 0.706548 0.9885265 0 1 TRUE 4.06098e-06 ENSE00001755928_017 ENSE00001755928 017 9 137648548 137648717 + 63 54 53 G A 137648668 3549 121 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAAGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756821 134756822 134756822 downstr_intron 4 1.076923 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAAGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 192 498 0.9947395 1 0.9973697 0.9559236 0.9936076 1 0.9953081 NA NA -0.005260502 0.004691893 0.9747656 0.9976541 NA -0.0002843044 NA FALSE NA 1 1.86 . splice_region_variant&intron_variant LOW COL5A1 HGNC 2209 ENST00000371817 17/65 1 NA AGG G 2.471e-05 9:134756822 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 splice_region_variant 0.624202 0.35247 0.20065 0.099367 0.6478998 0.272025 1 TRUE 2.03061e-05 ENSE00001755928_018 ENSE00001755928 018 9 137648548 137648717 + 63 54 53 C T 137648671 3550 124 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTTACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756824 134756825 134756825 downstr_intron 7 1.134615 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTTACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 1749 382 0.9720286 0.9995858 0.9858072 0.9559236 0.9936076 1 0.9953081 NA NA -0.02797137 0.004277657 0.9747656 0.9976541 NA -0.01184686 NA FALSE NA 0 -1.87 . splice_region_variant&intron_variant LOW COL5A1 HGNC 2209 ENST00000371817 17/65 1 NA TCA C 8.237e-06 9:134756825 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 splice_region_variant -0.28481 0.09733 0.00558 0.062308 0.4130409 0.0622604 1 TRUE 8.12269e-06 ENSE00001755928_020 ENSE00001755928 020 9 137648548 137648717 + 63 54 53 C A 137648677 3552 130 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCAACACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756830 134756831 134756831 downstr_intron 13 1.25 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCAACACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 369 150 0.9966609 1 0.9983304 0.9559236 0.9936076 1 0.9953081 NA NA -0.003339149 0.004691893 0.9747656 0.9976541 NA 0.0006763724 NA FALSE NA 0 -1.244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134756831 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 intron_variant -0.399251 0.12 0.04056 0.062308 0.2813746 0.0536509 1 TRUE 4.06161e-06 ENSE00001755928_021 ENSE00001755928 021 9 137648548 137648717 + 63 54 53 C G 137648677 3553 130 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCAGCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756830 134756831 134756831 downstr_intron 13 1.25 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCAGCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 132 1168 1 0.9985533 0.9992767 0.9559236 0.9936076 1 0.9953081 NA NA 0 0.003245235 0.9747656 0.9976541 NA 0.001622617 NA FALSE NA 0 -1.244 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001755928 intron_variant -0.538847 0.12211 0.0281 0.062308 0.2891186 0.0536509 1 TRUE 4.06161e-06 ENSE00001755928_022 ENSE00001755928 022 9 137648548 137648717 + 63 54 53 C T 137648681 3554 134 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACTCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 134756834 134756835 134756835 downstr_intron 17 1.326923 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACTCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 180 149 0.9997711 0.9989371 0.9993541 0.9559236 0.9936076 1 0.9953081 NA NA -0.0002288541 0.003628981 0.9747656 0.9976541 NA 0.001700063 NA FALSE NA 0 0.363 . intron_variant MODIFIER COL5A1 HGNC 2209 ENST00000371817 17/65 1 NA CCC C 3.295e-05 9:134756835 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 intron_variant 0.284352 0.19036 0.00496 0.062308 0.5078614 0.0536509 1 TRUE 2.0309e-05 ENSE00001755928_024 ENSE00001755928 024 9 137648548 137648717 + 63 54 53 T A 137648699 3556 152 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCAACACTGTCATCCCTGGGGT 134756701 134756871 134756852 134756853 134756853 downstr_intron 35 1.673077 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCAACACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 512 834 0.9946792 0.8824758 0.9385775 0.9559236 0.9936076 1 0.9953081 NA NA -0.005320847 -0.1128323 0.9747656 0.9976541 NA -0.05907657 NA FALSE NA 0 -0.859 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:134756853 COL5A1 HGNC Symbol protein_coding 203069 ENSG00000130635 ENSE00001755928 intron_variant 0.219823 0.11385 0.01092 0.062308 0.4299907 0.0536509 1 TRUE 4.06309e-06 ENSE00001755928_025 ENSE00001755928 025 9 137648548 137648717 + 63 54 53 T C 137648699 3557 152 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCACCACTGTCATCCCTGGGGT 134756701 134756871 134756852 134756853 134756853 downstr_intron 35 1.673077 GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCACCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT mutant NA NA NA NA NA 84 142 0.9888686 1 0.9944343 0.9559236 0.9936076 1 0.9953081 NA NA -0.01113144 0.004691893 0.9747656 0.9976541 NA -0.003219774 NA FALSE NA 0 -0.859 NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001755928 intron_variant -0.054459 0.10344 0.01015 0.062308 0.4027904 0.0536509 1 TRUE 3.25047e-05 ENSE00001755928_BRK ENSE00001755928 BRK 9 137648548 137648717 + 63 54 53 A,G; T,T NA NA NA GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCTTGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGCCAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT 134756701 134756871 NA NA NA NA NA NA GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCTTGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGCCAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT GGCCCGGGGGTCTCAGTGAACCGGGGCTCTTTTGCATTGACGGTTTTGCCTCCTTTGTTCCAGGGTCGGGCTGGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGTAGGTCACCCACCACCCTCCTGGTGCCCTGGCATCACTGTCATCCCTGGGGT control 358 220 0.07440596 0 0.03720298 NA NA NA NA NA 0.9559236 0.9936076 1 0.9953081 -0.8815176 -0.9936076 NA NA 0.9747656 0.9976541 -0.9375626 NA NA NA TRUE NA NA NA NA NA COL5A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A1 NA NA NA ENSG00000130635 ENSE00001755928 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001756460_000 ENSE00001756460 000 7 55242374 55242543 + 41 99 30 NA NA NA NA NA GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGACGGGAATTTTAACTTTCTCACCTTCTGGGATCCAGAGTCCCTATGACAGAGAGAGAAGGAAGACGTTAACTGGCAATTGTG 55174680 55174850 NA NA NA NA NA NA CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC natural 367 339 0.9736463 0.9725762 0.9731113 5456 7763 0.8760211 0.9548018 0.9154115 0.9736463 0.9725762 0.8760211 0.9548018 0 0 0 0 0.9731113 0.9154115 0 0 0 FALSE FALSE NA NA NA NA NA EGFR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EGFR NA NA NA ENSG00000146648 ENSE00001756460 NA NA NA NA NA NA NA 0.9986645 TRUE NA ENSE00001756460_001 ENSE00001756460 001 7 55242374 55242543 + 41 99 30 G A 55242385 1071 12 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGACGGGAATTTTAACTTTCTCACCTTCTGGGATCCAGAGTCCCTATGACAGAGAGAGAAGGAAGACGTTAATTGGCAATTGTG 55174680 55174850 55174691 55174692 55174692 upstr_intron -30 -0.7073171 CACAATTGCCAATTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 400 876 1 0.9980601 0.99903 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1239789 0.04325831 0.9731113 0.9154115 NA 0.08361859 NA FALSE NA 0 -0.018 . intron_variant MODIFIER EGFR HGNC 3236 ENST00000454757 18/27 1 NA AGT G,A 5.765e-05 7:55174692 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 intron_variant 0.297573 0.33079 0.08672 0.074388 0.6007232 0.0518458 0.9986645 TRUE 3.65696e-05 ENSE00001756460_002 ENSE00001756460 002 7 55242374 55242543 + 41 99 30 G A 55242391 1072 18 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGACGGGAATTTTAACTTTCTCACCTTCTGGGATCCAGAGTCCCTATGACAGAGAGAGAAGGAAGATGTTAACTGGCAATTGTG 55174680 55174850 55174697 55174698 55174698 upstr_intron -24 -0.5609756 CACAATTGCCAGTTAACATCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 93 332 0.967753 0.9953927 0.9815729 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.09173192 0.04059093 0.9731113 0.9154115 NA 0.06616142 NA FALSE NA 0 -0.265 rs113262226 intron_variant MODIFIER EGFR HGNC 3236 ENST00000454757 18/27 rs113262226 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 A:0.0002 A:0.0001 CGT G,A 0.0002224 7:55174698 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 intron_variant -0.16889 0.18316 0.03609 0.074388 0.7367566 0.0510595 0.9986645 TRUE 0.000166553 ENSE00001756460_003 ENSE00001756460 003 7 55242374 55242543 + 41 99 30 C G 55242393 1073 20 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGACGGGAATTTTAACTTTCTCACCTTCTGGGATCCAGAGTCCCTATGACAGAGAGAGAAGGAACACGTTAACTGGCAATTGTG 55174680 55174850 55174699 55174700 55174700 upstr_intron -22 -0.5121951 CACAATTGCCAGTTAACGTGTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 1221 78 0.9973049 1 0.9986525 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1212838 0.04519821 0.9731113 0.9154115 NA 0.08324102 NA FALSE NA 0 0.308 rs148470638 intron_variant MODIFIER EGFR HGNC 3236 ENST00000454757 18/27 rs148470638 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TCT C,G 8.236e-06 7:55174700 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 intron_variant 0.390516 0.2969 0.09941 0.074388 0.591778 0.0931705 0.9986645 TRUE 1.21864e-05 ENSE00001756460_004 ENSE00001756460 004 7 55242374 55242543 + 41 99 30 C T 55242397 1074 24 CACAATTGCCAGTTAACGTCTTCTTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174703 55174704 55174704 upstr_intron -18 -0.4146341 CACAATTGCCAGTTAACGTCTTCTTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 461 509 0.9971079 1 0.9985539 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1210867 0.04519821 0.9731113 0.9154115 NA 0.08314247 NA FALSE NA 0 -1.14 . intron_variant MODIFIER EGFR HGNC 3236 ENST00000454757 18/27 1 NA CCT C,T 8.236e-06 7:55174704 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 intron_variant 0.673712 0.10903 0.00943 0.074388 0.5698781 0.123341 0.9986645 TRUE 4.06177e-06 ENSE00001756460_005 ENSE00001756460 005 7 55242374 55242543 + 41 99 30 C T 55242402 1075 29 CACAATTGCCAGTTAACGTCTTCCTTCTTTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174708 55174709 55174709 upstr_intron -13 -0.2926829 CACAATTGCCAGTTAACGTCTTCCTTCTTTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 3029 119 0.9978326 0.9986687 0.9982506 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1218115 0.04386687 0.9731113 0.9154115 NA 0.08283916 NA FALSE NA 0 -1.731 . intron_variant MODIFIER EGFR HGNC 3236 ENST00000454757 18/27 rs377247228 1 NA T:0 T:0.0001 TCT C,T 8.236e-06 7:55174709 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 intron_variant 1.137238 0.19834 0.02396 0.074388 0.675468 0.123341 0.9986645 TRUE 4.06138e-06 ENSE00001756460_006 ENSE00001756460 006 7 55242374 55242543 + 41 99 30 C T 55242410 1076 37 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTTATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174716 55174717 55174717 upstr_intron -5 -0.09756098 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTTATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 302 1136 0.996823 0.9580887 0.9774558 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1208019 0.003286895 0.9731113 0.9154115 NA 0.06204439 NA FALSE NA 0.002 0.896 . splice_region_variant&intron_variant LOW EGFR HGNC 3236 ENST00000454757 18/27 rs368545090 1 NA T:0.0002 T:0 TCA C,T 8.236e-06 7:55174717 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 splice_region_variant 1.34862 0.1954 0.00733 0.074388 0.630473 0.272891 0.9986645 TRUE NA ENSE00001756460_007 ENSE00001756460 007 7 55242374 55242543 + 41 99 30 A G 55242413 1077 40 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATGGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174719 55174720 55174720 upstr_intron -2 -0.02439024 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATGGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 18 141 1 1 1 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1239789 0.04519821 0.9731113 0.9154115 NA 0.08458855 NA FALSE NA 1 9.236 . splice_acceptor_variant HIGH EGFR HGNC 3236 ENST00000454757 18/27 1 NA HC TAG A,G 8.236e-06 7:55174720 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 splice_acceptor_variant 4.568964 0.99537 0.99859 0.074388 0.995423 0.976861 0.9986645 TRUE 4.06108e-06 ENSE00001756460_009 ENSE00001756460 009 7 55242374 55242543 + 41 99 30 T C 55242419 1079 46 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGACGGGAATTTTAACTTTCTCACCTTCTGGGATCCAGGGTCCCTATGACAGAGAGAGAAGGAAGACGTTAACTGGCAATTGTG 55174680 55174850 55174725 55174726 55174726 exon 5 0.05050505 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACCCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 173 159 0.9997619 1 0.9998809 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1237408 0.04519821 0.9731113 0.9154115 NA 0.08446948 NA FALSE NA 1 7.952 NA NA NA EGFR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:55174726 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 6.259759 0.99508 0.99808 0.653281 0.9991806 0 0.9986645 TRUE 4.06101e-06 ENSE00001756460_010 ENSE00001756460 010 7 55242374 55242543 + 41 99 30 C G 55242420 1080 47 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGACGGGAATTTTAACTTTCTCACCTTCTGGGATCCACAGTCCCTATGACAGAGAGAGAAGGAAGACGTTAACTGGCAATTGTG 55174680 55174850 55174726 55174727 55174727 exon 6 0.06060606 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTGTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 167 588 0.9631784 1 0.9815892 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.08715727 0.04519821 0.9731113 0.9154115 NA 0.06617774 NA FALSE NA 1 1.032 . synonymous_variant LOW EGFR HGNC 3236 ENST00000454757 19/28 1 NA TCT C,G 8.236e-06 7:55174727 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 synonymous_variant 1.458678 0.9762 0.85348 0.653281 0.737443 0 0.9986645 TRUE 4.06105e-06 ENSE00001756460_011 ENSE00001756460 011 7 55242374 55242543 + 41 99 30 A T 55242447 1081 74 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAATATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174753 55174754 55174754 exon 33 0.3333333 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAATATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 738 37 0.999609 1 0.9998045 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1235879 0.04519821 0.9731113 0.9154115 NA 0.08439305 NA FALSE NA 1 3.543 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 1 NA AAA A,T 8.236e-06 7:55174754 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 5.439827 0.98193 0.95899 0.653281 0.9981483 0 0.9986645 TRUE 1.21821e-05 ENSE00001756460_012 ENSE00001756460 012 7 55242374 55242543 + 41 99 30 A G 55242448 1082 75 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAGTTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174754 55174755 55174755 exon 34 0.3434343 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAGTTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 201 159 1 1 1 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1239789 0.04519821 0.9731113 0.9154115 NA 0.08458855 NA FALSE NA 1 9.24 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 COSM3734669 1 NA AAT A,G 8.236e-06 7:55174755 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 4.485203 0.9957 0.99591 0.653281 0.9985097 0 0.9986645 TRUE 4.06072e-06 ENSE00001756460_013 ENSE00001756460 013 7 55242374 55242543 + 41 99 30 C T 55242453 1083 80 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCTGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174759 55174760 55174760 exon 39 0.3939394 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCTGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 266 197 0.999068 0.9990017 0.9990349 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1230469 0.04419996 0.9731113 0.9154115 NA 0.08362343 NA FALSE NA 0.442 -0.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:55174760 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 synonymous_variant 2.396895 0.87068 0.13961 0.653281 0.870326 0 0.9986645 TRUE 0.000113699 ENSE00001756460_014 ENSE00001756460 014 7 55242374 55242543 + 41 99 30 C A 55242453 1084 80 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGACTGGAATTTTAACTTTCTCACCTTCTGGGATCCAGAGTCCCTATGACAGAGAGAGAAGGAAGACGTTAACTGGCAATTGTG 55174680 55174850 55174759 55174760 55174760 exon 39 0.3939394 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCAGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 2024 25 0.9989233 0.9936205 0.9962719 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1229021 0.03881876 0.9731113 0.9154115 NA 0.08086044 NA FALSE NA 0.442 -0.338 NA NA NA EGFR-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EGFR NA NA NA ENSG00000146648 ENSE00001756460 synonymous_variant 2.812729 0.91375 0.38067 0.653281 0.8471111 0 0.9986645 TRUE 8.12137e-06 ENSE00001756460_015 ENSE00001756460 015 7 55242374 55242543 + 41 99 30 G A 55242454 1085 81 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGATGGGAATTTTAACTTTCTCACCTTCTGGGATCCAGAGTCCCTATGACAGAGAGAGAAGGAAGACGTTAACTGGCAATTGTG 55174680 55174850 55174760 55174761 55174761 exon 40 0.4040404 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCATCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 56 159 1 0.999004 0.999502 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1239789 0.04420224 0.9731113 0.9154115 NA 0.08409056 NA FALSE NA 1 9.763 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 COSM1090888 1 NA CGT G,A 2.471e-05 7:55174761 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 6.951058 0.99676 0.99624 0.653281 0.9989698 0 0.9986645 TRUE 2.03036e-05 ENSE00001756460_016 ENSE00001756460 016 7 55242374 55242543 + 41 99 30 C T 55242456 1086 83 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTTGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174762 55174763 55174763 exon 42 0.4242424 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTTGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 692 65 0.9980009 0.9071075 0.9525542 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1219798 -0.04769429 0.9731113 0.9154115 NA 0.03714277 NA FALSE NA 0.594 -0.344 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 1 NA TCG C,T 8.236e-06 7:55174763 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 synonymous_variant 2.167671 0.97454 0.46786 0.653281 0.8845391 0 0.9986645 TRUE 8.12137e-06 ENSE00001756460_017 ENSE00001756460 017 7 55242374 55242543 + 41 99 30 G A 55242457 1087 84 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTCGGAGATGTTGCTTCTCTTAATTCCTTGATAGTGACGGGAATTTTAACTTTCTCACCTTCTGGGATCCAGAGTCCCTATGACAGAGAGAGAAGGAAGACGTTAACTGGCAATTGTG 55174680 55174850 55174763 55174764 55174764 exon 43 0.4343434 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCACTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 247 138 0.9835835 0.9537884 0.968686 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1075624 -0.001013363 0.9731113 0.9154115 NA 0.05327453 NA FALSE NA 1 9.763 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 COSM26509 1 NA CGC G,A 8.236e-06 7:55174764 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 7.454654 0.99676 0.99624 0.653281 0.9994047 0 0.9986645 TRUE 8.12137e-06 ENSE00001756460_018 ENSE00001756460 018 7 55242374 55242543 + 41 99 30 C T 55242482 1088 109 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAATATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174788 55174789 55174789 exon -32 0.6868687 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAATATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 81 288 0.950748 1 0.975374 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.07472687 0.04519821 0.9731113 0.9154115 NA 0.05996254 NA FALSE NA 1 7.736 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 COSM13185 1 NA ACA C,T 8.236e-06 7:55174789 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 6.429566 0.99515 0.99151 0.653281 0.9991553 0 0.9986645 TRUE 4.06058e-06 ENSE00001756460_019 ENSE00001756460 019 7 55242374 55242543 + 41 99 30 C T 55242487 1089 114 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTTCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174793 55174794 55174794 exon -27 0.7373737 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTTCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 141 1458 1 0.9993974 0.9996987 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1239789 0.0445956 0.9731113 0.9154115 NA 0.08428724 NA FALSE NA 1 5.992 rs121913231 downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 rs121913231&COSM6268 1 NA TCC C,T 8.236e-06 7:55174794 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 5.179711 0.99515 0.98527 0.653281 0.9980259 0 0.9986645 TRUE 8.1211e-06 ENSE00001756460_020 ENSE00001756460 020 7 55242374 55242543 + 41 99 30 C T 55242488 1090 115 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCTGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174794 55174795 55174795 exon -26 0.7474747 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCTGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 1788 306 0.9956284 1 0.9978142 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1196073 0.04519821 0.9731113 0.9154115 NA 0.08240274 NA FALSE NA 1 5.897 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 rs559717059&COSM1168015 1 NA CCG C,T 6.589e-05 7:55174795 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 7.314552 0.99515 0.98745 0.653281 0.9966749 0 0.9986645 TRUE 3.24855e-05 ENSE00001756460_021 ENSE00001756460 021 7 55242374 55242543 + 41 99 30 G A 55242489 1091 116 GGACCCCCACACAGCAAAGCAGAAACTCACATCGAGGATTTCCTTGTTGGCTTTTGGAGATGTTGCTTCTCTTAATTCCTTGATAGCGACGGGAATTTTAACTTTCTCACCTTCTGGGATCCAGAGTCCCTATGACAGAGAGAGAAGGAAGACGTTAACTGGCAATTGTG 55174680 55174850 55174795 55174796 55174796 exon -25 0.7575758 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCAAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 753 152 0.8801947 0.9989581 0.9395764 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.004173538 0.04415631 0.9731113 0.9154115 NA 0.02416492 NA FALSE NA 0 -2.578 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 COSM601575&COSM18489 1 NA CGA G,A 2.471e-05 7:55174796 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 synonymous_variant 1.133429 0.17799 0.01958 0.653281 0.8349 0 0.9986645 TRUE 1.62427e-05 ENSE00001756460_023 ENSE00001756460 023 7 55242374 55242543 + 41 99 30 A G 55242503 1093 130 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGGAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 55174809 55174810 55174810 exon -11 0.8989899 CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGGAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC mutant NA NA NA NA NA 59 494 1 0.9864532 0.9932266 0.9736463 0.9725762 0.8760211 0.9548018 NA NA 0.1239789 0.0316514 0.9731113 0.9154115 NA 0.07781514 NA FALSE NA 1 9.24 . downstream_gene_variant MODIFIER EGFR-AS1 HGNC 40207 ENST00000442411 COSM707173 1 NA GAA A,G 8.236e-06 7:55174810 EGFR HGNC Symbol protein_coding 192607 ENSG00000146648 ENSE00001756460 missense_variant 7.044083 0.9939 0.9946 0.653281 0.9991808 0 0.9986645 TRUE 4.06062e-06 ENSE00001756460_BRK ENSE00001756460 BRK 7 55242374 55242543 + 41 99 30 A,G; T,T NA NA NA CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATTTGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATCCGAGTTTCTGCTTTGCTGTGTGGGGGTCC 55174680 55174850 NA NA NA NA NA NA CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATTTGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATCCGAGTTTCTGCTTTGCTGTGTGGGGGTCC CACAATTGCCAGTTAACGTCTTCCTTCTCTCTCTGTCATAGGGACTCTGGATCCCAGAAGGTGAGAAAGTTAAAATTCCCGTCGCTATCAAGGAATTAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGAGTTTCTGCTTTGCTGTGTGGGGGTCC control NA NA NA NA NA 70 236 0.8733952 0.9412019 0.9072985 0.9736463 0.9725762 0.8760211 0.9548018 NA NA -0.002625956 -0.01359991 0.9731113 0.9154115 NA -0.008112931 NA FALSE NA NA NA NA NA NA EGFR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EGFR NA NA NA ENSG00000146648 ENSE00001756460 NA NA NA NA NA NA NA 0.9986645 TRUE NA ENSE00001756605_000 ENSE00001756605 000 22 22326207 22326376 - 42 75 53 NA NA NA NA NA GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT 21971834 21972004 NA NA NA NA NA NA GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT natural NA NA NA NA NA 585 143 0.5353809 0.6982861 0.6168335 NA NA 0.5353809 0.6982861 NA NA 0 0 NA 0.6168335 NA 0 NA FALSE NA NA NA NA NA NA TOP3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOP3B NA NA NA ENSG00000100038 ENSE00001756605 NA NA NA NA NA NA NA 0.114528 FALSE NA ENSE00001756619_000 ENSE00001756619 000 2 11931996 11932165 + 44 93 33 NA NA NA NA NA AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 NA NA NA NA NA NA TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT natural NA NA NA NA NA 3193 1601 0.902349 0.7276441 0.8149966 NA NA 0.902349 0.7276441 NA NA 0 0 NA 0.8149966 NA 0 NA FALSE NA NA NA NA NA NA LPIN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LPIN1 NA NA NA ENSG00000134324 ENSE00003739202 NA NA NA NA NA NA NA 2.34821e-05 FALSE NA ENSE00001756619_002 ENSE00001756619 002 2 11931996 11932165 + 44 93 33 A G 11932013 154 18 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAACAATGGAACAAAAAAAGA 11791869 11792039 11791886 11791887 11791887 upstr_intron -27 -0.5909091 TCTTTTTTTGTTCCATTGTTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 27 452 0.947094 0.969405 0.9582495 NA NA 0.902349 0.7276441 NA NA 0.04474496 0.2417608 NA 0.8149966 NA 0.1432529 NA FALSE NA 1 2.752 . intron_variant MODIFIER LPIN1 HGNC 13345 ENST00000454151 3/6 rs536335987 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 TAT A,G 8.236e-06 2:11791887 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 intron_variant 2.539947 0.97605 0.9139 0.156188 0.8523346 0.899855 2.34821e-05 FALSE 4.08563e-06 ENSE00001756619_003 ENSE00001756619 003 2 11931996 11932165 + 44 93 33 T C 11932014 155 19 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAGTAATGGAACAAAAAAAGA 11791869 11792039 11791887 11791888 11791888 upstr_intron -26 -0.5681818 TCTTTTTTTGTTCCATTACTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 2554 197 0.9991998 0.9816857 0.9904428 NA NA 0.902349 0.7276441 NA NA 0.09685074 0.2540416 NA 0.8149966 NA 0.1754462 NA FALSE NA 1 3.958 . intron_variant MODIFIER LPIN1 HGNC 13345 ENST00000454151 3/6 1 NA ATT T,C 8.236e-06 2:11791888 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 intron_variant 2.397674 0.98651 0.9737 0.156188 0.8898856 0.979155 2.34821e-05 FALSE NA ENSE00001756619_004 ENSE00001756619 004 2 11931996 11932165 + 44 93 33 T C 11932020 156 25 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAGCATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791893 11791894 11791894 upstr_intron -20 -0.4318182 TCTTTTTTTGTTCCATTATTTATGCTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 827 1807 0.9509813 0.9693505 0.9601659 NA NA 0.902349 0.7276441 NA NA 0.04863224 0.2417064 NA 0.8149966 NA 0.1451693 NA FALSE NA 1 3.701 . intron_variant MODIFIER LPIN1 HGNC 13345 ENST00000454151 3/6 1 NA GTT T,C 1.647e-05 2:11791894 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 intron_variant 2.269468 0.9827 0.98346 0.295142 0.8649283 0.970459 2.34821e-05 FALSE 8.14797e-06 ENSE00001756619_006 ENSE00001756619 006 2 11931996 11932165 + 44 93 33 A G 11932033 158 38 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTCAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791906 11791907 11791907 upstr_intron -7 -0.1363636 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTGAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 186 538 1 0.9921314 0.9960657 NA NA 0.902349 0.7276441 NA NA 0.09765095 0.2644873 NA 0.8149966 NA 0.1810691 NA FALSE NA 1 2.029 . splice_region_variant&intron_variant LOW LPIN1 HGNC 13345 ENST00000454151 3/6 1 NA TAA A,G 8.236e-06 2:11791907 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 splice_region_variant 1.347757 0.95878 0.63965 0.295142 0.8664278 0.613688 2.34821e-05 FALSE 4.0656e-06 ENSE00001756619_009 ENSE00001756619 009 2 11931996 11932165 + 44 93 33 G A 11932064 161 69 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATTCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791937 11791938 11791938 exon 25 0.2688172 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGAATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 86 138 0.9765111 1 0.9882556 NA NA 0.902349 0.7276441 NA NA 0.07416206 0.2723559 NA 0.8149966 NA 0.173259 NA FALSE NA 1 9.723 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:11791938 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 missense_variant 6.419246 0.99423 0.9951 0.706548 0.998858 0 2.34821e-05 FALSE 4.0622e-06 ENSE00001756619_010 ENSE00001756619 010 2 11931996 11932165 + 44 93 33 G C 11932064 162 69 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATGCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791937 11791938 11791938 exon 25 0.2688172 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGCATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 444 1083 0.9922419 0.9996831 0.9959625 NA NA 0.902349 0.7276441 NA NA 0.08989284 0.272039 NA 0.8149966 NA 0.1809659 NA FALSE NA 1 9.723 NA NA NA LPIN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LPIN1 NA NA NA ENSG00000134324 ENSE00003739202 missense_variant 4.19042 0.99448 0.99607 0.706548 0.9921452 0 2.34821e-05 FALSE 4.0622e-06 ENSE00001756619_012 ENSE00001756619 012 2 11931996 11932165 + 44 93 33 A C 11932076 164 81 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTGGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791949 11791950 11791950 exon 37 0.3978495 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCCAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 595 149 0.9865942 1 0.9932971 NA NA 0.902349 0.7276441 NA NA 0.08424513 0.2723559 NA 0.8149966 NA 0.1783005 NA FALSE NA 1 7.28 . missense_variant MODERATE LPIN1 HGNC 13345 ENST00000454151 4/7 1 deleterious(0.03) benign(0.074) NA CAA A,C 8.236e-06 2:11791950 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 missense_variant 3.334699 0.98257 0.98071 0.706548 0.984957 0 2.34821e-05 FALSE 8.12427e-06 ENSE00001756619_013 ENSE00001756619 013 2 11931996 11932165 + 44 93 33 A G 11932078 165 83 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTCTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791951 11791952 11791952 exon 39 0.4193548 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAGAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 33 27 1 1 1 NA NA 0.902349 0.7276441 NA NA 0.09765095 0.2723559 NA 0.8149966 NA 0.1850034 NA FALSE NA 1 0.894 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:11791952 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 synonymous_variant -0.656797 0.9695 0.64024 0.706548 0.7278138 0 2.34821e-05 FALSE 8.12348e-06 ENSE00001756619_014 ENSE00001756619 014 2 11931996 11932165 + 44 93 33 A T 11932078 166 83 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTATTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791951 11791952 11791952 exon 39 0.4193548 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAATAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 408 43 0.9721072 0.9925904 0.9823488 NA NA 0.902349 0.7276441 NA NA 0.0697581 0.2649463 NA 0.8149966 NA 0.1673522 NA FALSE NA 1 0.894 NA NA NA LPIN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LPIN1 NA NA NA ENSG00000134324 ENSE00003739202 missense_variant 4.845596 0.97241 0.88969 0.706548 0.9986148 0 2.34821e-05 FALSE 4.06174e-06 ENSE00001756619_015 ENSE00001756619 015 2 11931996 11932165 + 44 93 33 A T 11932080 167 85 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCATTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791953 11791954 11791954 exon 41 0.4408602 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAATGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 392 317 0.9983081 0.999639 0.9989735 NA NA 0.902349 0.7276441 NA NA 0.09595901 0.2719949 NA 0.8149966 NA 0.1839769 NA FALSE NA 1 9.202 . missense_variant MODERATE LPIN1 HGNC 13345 ENST00000454151 4/7 1 deleterious(0) possibly_damaging(0.892) NA AAG A,T 4.942e-05 2:11791954 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 missense_variant 5.926445 0.99236 0.99485 0.706548 0.9964254 0 2.34821e-05 FALSE 4.46809e-05 ENSE00001756619_018 ENSE00001756619 018 2 11931996 11932165 + 44 93 33 A G 11932121 170 126 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCCTTGATTGCGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11791994 11791995 11791995 exon -12 0.8817204 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCGCAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 71 72 1 1 1 NA NA 0.902349 0.7276441 NA NA 0.09765095 0.2723559 NA 0.8149966 NA 0.1850034 NA FALSE NA 1 3.252 . missense_variant MODERATE LPIN1 HGNC 13345 ENST00000454151 4/7 1 tolerated(0.27) benign(0.005) NA CAC A,G 1.647e-05 2:11791995 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 missense_variant 0.592745 0.9715 0.93028 0.706548 0.8799119 0 2.34821e-05 FALSE 1.21952e-05 ENSE00001756619_019 ENSE00001756619 019 2 11931996 11932165 + 44 93 33 G A 11932129 171 134 AAGTGTGAGCACTGCTTTGTCTTCTGGGCTTACCTCTTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11792002 11792003 11792003 exon -4 0.9677419 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAAGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 297 170 1 0.9611979 0.9805989 NA NA 0.902349 0.7276441 NA NA 0.09765095 0.2335538 NA 0.8149966 NA 0.1656024 NA FALSE NA 0.999 0.923 . synonymous_variant LOW LPIN1 HGNC 13345 ENST00000454151 4/7 1 NA AGG G,A 8.236e-06 2:11792003 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 synonymous_variant 0.477245 0.96159 0.23356 0.719381 0.5127304 0 2.34821e-05 FALSE 8.13398e-06 ENSE00001756619_020 ENSE00001756619 020 2 11931996 11932165 + 44 93 33 A G 11932144 172 149 AAGTGTGAGCACTGCTTTGTCCTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11792017 11792018 11792018 downstr_intron 12 1.375 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAGGACAAAGCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 586 147 0.996018 0.9759458 0.9859819 NA NA 0.902349 0.7276441 NA NA 0.093669 0.2483016 NA 0.8149966 NA 0.1709853 NA FALSE NA 0.002 1.408 . intron_variant MODIFIER LPIN1 HGNC 13345 ENST00000454151 4/6 1 NA AAG A,G 8.236e-06 2:11792018 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 non_coding_transcript_exon_variant 0.213126 0.21352 0.13281 0.093477 0.5434694 0.046875 2.34821e-05 FALSE 4.07657e-06 ENSE00001756619_021 ENSE00001756619 021 2 11931996 11932165 + 44 93 33 G C 11932151 173 156 AAGTGTGAGCACTGGTTTGTCTTCTGGGCTTACCTCCTTGATTGTGGTGTTTCTTCCCCTCCATGAAAACCACCATCTTCCTCCCTTTTTGGGCATTTTATCCCTCATGATAGATTCCACAGTGGCCTGTTTTAAATGGATGGTAACATAAATAATGGAACAAAAAAAGA 11791869 11792039 11792024 11792025 11792025 downstr_intron 19 1.59375 TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAACCAGTGCTCACACTT TCTTTTTTTGTTCCATTATTTATGTTACCATCCATTTAAAACAGGCCACTGTGGAATCTATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGAAACACCACAATCAAGGAGGTAAGCCCAGAAGACAAAGCAGTGCTCACACTT mutant NA NA NA NA NA 786 133 1 0.9299942 0.9649971 NA NA 0.902349 0.7276441 NA NA 0.09765095 0.2023501 NA 0.8149966 NA 0.1500005 NA FALSE NA 0 -0.355 . intron_variant MODIFIER LPIN1 HGNC 13345 ENST00000454151 4/6 rs373332024 1 NA C:0 C:0.0001 AGC G,C 1.647e-05 2:11792025 LPIN1 HGNC Symbol protein_coding 149814 ENSG00000134324 ENSE00003739202 non_coding_transcript_exon_variant -0.571232 0.13179 0.02492 0.093477 0.3218251 0.046875 2.34821e-05 FALSE 8.18049e-06 ENSE00001756935_000 ENSE00001756935 000 4 152509945 152510114 + 47 87 36 NA NA NA NA NA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA 151588792 151588962 NA NA NA NA NA NA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA natural 419 709 0.8083523 0.7868636 0.7976079 1840 2525 0.9328872 0.8802888 0.906588 0.8083523 0.7868636 0.9328872 0.8802888 0 0 0 0 0.7976079 0.906588 0 0 0 FALSE FALSE NA NA NA NA NA FAM160A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM160A1 NA NA NA ENSG00000164142 ENSE00001756935 NA NA NA NA NA NA NA NA NA NA ENSE00001756935_001 ENSE00001756935 001 4 152509945 152510114 + 47 87 36 A G 152509975 1611 31 AAGATTGAACTCTTTGCCTTTTTCATGCCTGTGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA 151588792 151588962 151588822 151588823 151588823 upstr_intron -17 -0.3404255 AAGATTGAACTCTTTGCCTTTTTCATGCCTGTGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA mutant NA NA NA NA NA 130 78 0.9547635 0.983882 0.9693228 0.8083523 0.7868636 0.9328872 0.8802888 NA NA 0.02187632 0.1035933 0.7976079 0.906588 NA 0.0627348 NA FALSE NA 0 -1.015 . intron_variant MODIFIER FAM160A1 HGNC 34237 ENST00000435205 6/13 rs370884694 1 NA G:0 G:0.0003 TAT A,G 4.419e-05 4:151588823 FAM160A1 HGNC Symbol protein_coding 254416 ENSG00000164142 ENSE00001756935 intron_variant -0.36194 0.10585 0.01218 0.078448 0.318215 0.0840473 NA NA 3.36555e-05 ENSE00001756935_002 ENSE00001756935 002 4 152509945 152510114 + 47 87 36 G A 152509977 1612 33 AAGATTGAACTCTTTGCCTTTTTCATGCCTATATGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA 151588792 151588962 151588824 151588825 151588825 upstr_intron -15 -0.2978723 AAGATTGAACTCTTTGCCTTTTTCATGCCTATATGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA mutant NA NA NA NA NA 2905 722 0.9571939 0.9521236 0.9546587 0.8083523 0.7868636 0.9328872 0.8802888 NA NA 0.02430673 0.07183482 0.7976079 0.906588 NA 0.04807077 NA FALSE NA 0 -2.099 . intron_variant MODIFIER FAM160A1 HGNC 34237 ENST00000435205 6/13 rs374063785 1 A:0.0030 A:0 A:0 NA A:0.0149 A:0 A:0 TGT G,A 0.0003982 4:151588825 FAM160A1 HGNC Symbol protein_coding 254416 ENSG00000164142 ENSE00001756935 intron_variant -0.676579 0.16671 0.01194 0.078448 0.1818565 0.0840473 NA NA 0.000316349 ENSE00001756935_003 ENSE00001756935 003 4 152509945 152510114 + 47 87 36 C T 152509980 1613 36 AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGTCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA 151588792 151588962 151588827 151588828 151588828 upstr_intron -12 -0.2340426 AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGTCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA mutant NA NA NA NA NA 1035 2127 0.9077119 0.9994974 0.9536046 0.8083523 0.7868636 0.9328872 0.8802888 NA NA -0.02517532 0.1192087 0.7976079 0.906588 NA 0.04701668 NA FALSE NA 0.001 0.022 . intron_variant MODIFIER FAM160A1 HGNC 34237 ENST00000435205 6/13 1 NA GCC C,T 4.427e-05 4:151588828 FAM160A1 HGNC Symbol protein_coding 254416 ENSG00000164142 ENSE00001756935 intron_variant -0.142038 0.19282 0.00154 0.080785 0.2061523 0.150311 NA NA 6.73065e-06 ENSE00001756935_005 ENSE00001756935 005 4 152509945 152510114 + 47 87 36 A G 152510026 1615 82 AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAGTTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA 151588792 151588962 151588873 151588874 151588874 exon 35 0.4022989 AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAGTTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA mutant NA NA NA NA NA 23 2261 0.9526168 0.952768 0.9526924 0.8083523 0.7868636 0.9328872 0.8802888 NA NA 0.0197296 0.0724792 0.7976079 0.906588 NA 0.0461044 NA FALSE NA 1 2.036 . missense_variant MODERATE FAM160A1 HGNC 34237 ENST00000435205 7/14 rs377228217 1 tolerated(0.36) benign(0.044) NA G:0 G:0.0003 AAT A,G 8.917e-05 4:151588874 FAM160A1 HGNC Symbol protein_coding 254416 ENSG00000164142 ENSE00001756935 missense_variant 0.376513 0.96087 0.73414 0.706298 0.9189071 0 NA NA 4.71025e-05 ENSE00001756935_007 ENSE00001756935 007 4 152509945 152510114 + 47 87 36 A G 152510074 1617 130 AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCGTAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA 151588792 151588962 151588921 151588922 151588922 exon -5 0.954023 AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCGTAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA mutant NA NA NA NA NA 890 779 0.9459403 0.8981636 0.922052 0.8083523 0.7868636 0.9328872 0.8802888 NA NA 0.01305314 0.01787484 0.7976079 0.906588 NA 0.01546399 NA FALSE NA 1 8.375 . missense_variant MODERATE FAM160A1 HGNC 34237 ENST00000435205 7/14 rs374535847 1 deleterious(0) probably_damaging(0.999) NA G:0 G:0.0019 CAT A,G 0.000134 4:151588922 FAM160A1 HGNC Symbol protein_coding 254416 ENSG00000164142 ENSE00001756935 missense_variant 5.35061 0.99128 0.99093 0.706298 0.997157 0 NA NA 0.000154957 ENSE00001756935_BRK ENSE00001756935 BRK 4 152509945 152510114 + 47 87 36 A,G; T,T NA NA NA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCTTGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGCCCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA 151588792 151588962 NA NA NA NA NA NA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCTTGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGCCCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA AAGATTGAACTCTTTGCCTTTTTCATGCCTATGTGCCTCTCTCTCAGGTGGCTCACCCCTTGATTCGAAATCAGCTTGTCAATTACATTTACAATGGATTTTTGGTACCAGTCTTGGCTCCTGCTCTCCATAAGGTCAGTGATTGGCTCATGTAATCTTCTGTCTCTATA control 370 619 0.06245196 0 0.03122598 NA NA NA NA NA 0.8083523 0.7868636 0.9328872 0.8802888 -0.7459003 -0.7868636 NA NA 0.7976079 0.906588 -0.7663819 NA NA NA TRUE NA NA NA NA NA FAM160A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM160A1 NA NA NA ENSG00000164142 ENSE00001756935 NA NA NA NA NA NA NA NA NA NA ENSE00001758231_000 ENSE00001758231 000 X 64936632 64936801 + 48 84 38 NA NA NA NA NA TGAACACAGAGCCAGATGACTAACCTGCTTCCTTTGATCTCATCCTAGATCAGTGTGCGTGTGACCACCATGGATGCAGAGCTGGAGTTTGCCATCCAGCCCAACACCACCGGGAAGCAGCTATTTGACCAGGTAAGGCGGAGACTCCTTAGCCTCCTCTCCTTCTCTGA 65716769 65716939 NA NA NA NA NA NA TGAACACAGAGCCAGATGACTAACCTGCTTCCTTTGATCTCATCCTAGATCAGTGTGCGTGTGACCACCATGGATGCAGAGCTGGAGTTTGCCATCCAGCCCAACACCACCGGGAAGCAGCTATTTGACCAGGTAAGGCGGAGACTCCTTAGCCTCCTCTCCTTCTCTGA TGAACACAGAGCCAGATGACTAACCTGCTTCCTTTGATCTCATCCTAGATCAGTGTGCGTGTGACCACCATGGATGCAGAGCTGGAGTTTGCCATCCAGCCCAACACCACCGGGAAGCAGCTATTTGACCAGGTAAGGCGGAGACTCCTTAGCCTCCTCTCCTTCTCTGA natural 20 16 0.9981694 1 0.9990847 421 746 0.9779826 0.9635557 0.9707692 0.9981694 1 0.9779826 0.9635557 0 0 0 0 0.9990847 0.9707692 0 0 0 FALSE FALSE NA NA NA NA NA MSN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MSN NA NA NA ENSG00000147065 ENSE00001758231 NA NA NA NA NA NA NA 0.9935571 TRUE NA ENSE00001758231_009 ENSE00001758231 009 X 64936632 64936801 + 48 84 38 G A 64936758 578 127 TCAGAGAAGGAGAGGAGGCTAAGGAGTCTCCGCCTTACCTGGTTAAATAGCTGCTTCCCGGTGGTGTTGGGCTGGATGGCAAACTCCAGCTCTGCATCCATGGTGGTCACACGCACACTGATCTAGGATGAGATCAAAGGAAGCAGGTTAGTCATCTGGCTCTGTGTTCA 65716769 65716939 65716895 65716896 65716896 exon -6 0.9404762 TGAACACAGAGCCAGATGACTAACCTGCTTCCTTTGATCTCATCCTAGATCAGTGTGCGTGTGACCACCATGGATGCAGAGCTGGAGTTTGCCATCCAGCCCAACACCACCGGGAAGCAGCTATTTAACCAGGTAAGGCGGAGACTCCTTAGCCTCCTCTCCTTCTCTGA TGAACACAGAGCCAGATGACTAACCTGCTTCCTTTGATCTCATCCTAGATCAGTGTGCGTGTGACCACCATGGATGCAGAGCTGGAGTTTGCCATCCAGCCCAACACCACCGGGAAGCAGCTATTTGACCAGGTAAGGCGGAGACTCCTTAGCCTCCTCTCCTTCTCTGA mutant NA NA NA NA NA 145 486 1 1 1 0.9981694 1 0.9779826 0.9635557 NA NA 0.02201736 0.03644433 0.9990847 0.9707692 NA 0.02923085 NA FALSE NA 1 8.9 . missense_variant MODERATE MSN HGNC 7373 ENST00000360270 2/13 COSM3992555 1 deleterious(0.04) probably_damaging(0.92) NA TGA G,A 8.237e-06 X:65716896 MSN HGNC Symbol protein_coding 153554 ENSG00000147065 ENSE00001758231 missense_variant 6.476427 0.98944 0.98546 0 0.998369 0 0.9935571 TRUE 5.60909e-06 ENSE00001758231_010 ENSE00001758231 010 X 64936632 64936801 + 48 84 38 A G 64936759 579 128 TGAACACAGAGCCAGATGACTAACCTGCTTCCTTTGATCTCATCCTAGATCAGTGTGCGTGTGACCACCATGGATGCAGAGCTGGAGTTTGCCATCCAGCCCAACACCACCGGGAAGCAGCTATTTGGCCAGGTAAGGCGGAGACTCCTTAGCCTCCTCTCCTTCTCTGA 65716769 65716939 65716896 65716897 65716897 exon -5 0.952381 TGAACACAGAGCCAGATGACTAACCTGCTTCCTTTGATCTCATCCTAGATCAGTGTGCGTGTGACCACCATGGATGCAGAGCTGGAGTTTGCCATCCAGCCCAACACCACCGGGAAGCAGCTATTTGGCCAGGTAAGGCGGAGACTCCTTAGCCTCCTCTCCTTCTCTGA TGAACACAGAGCCAGATGACTAACCTGCTTCCTTTGATCTCATCCTAGATCAGTGTGCGTGTGACCACCATGGATGCAGAGCTGGAGTTTGCCATCCAGCCCAACACCACCGGGAAGCAGCTATTTGACCAGGTAAGGCGGAGACTCCTTAGCCTCCTCTCCTTCTCTGA mutant NA NA NA NA NA 116 27 1 1 1 0.9981694 1 0.9779826 0.9635557 NA NA 0.02201736 0.03644433 0.9990847 0.9707692 NA 0.02923085 NA FALSE NA 1 8.421 . missense_variant MODERATE MSN HGNC 7373 ENST00000360270 2/13 1 deleterious(0) probably_damaging(0.945) NA GAC A,G 1.647e-05 X:65716897 MSN HGNC Symbol protein_coding 153554 ENSG00000147065 ENSE00001758231 missense_variant 6.036067 0.98625 0.98297 0 0.9982484 0 0.9935571 TRUE NA ENSE00001758602_000 ENSE00001758602 000 7 6461317 6461486 - 41 78 51 NA NA NA NA NA CACCCTGCCCATCACAGGCTGACGGCCGCTTCTGCAACGCCCTTTTTACAGGATGTCCTTACGGACCTGTCAGCGGAGAGTGAGGTGCTGGACGTGGAGTGTGAGGTGCAGGACCGCCTGGCACACAAGGTATGAGCGCGGACTCGTGTGTCTTGCCTGTGAATGCTGAC 6421685 6421855 NA NA NA NA NA NA CACCCTGCCCATCACAGGCTGACGGCCGCTTCTGCAACGCCCTTTTTACAGGATGTCCTTACGGACCTGTCAGCGGAGAGTGAGGTGCTGGACGTGGAGTGTGAGGTGCAGGACCGCCTGGCACACAAGGTATGAGCGCGGACTCGTGTGTCTTGCCTGTGAATGCTGAC CACCCTGCCCATCACAGGCTGACGGCCGCTTCTGCAACGCCCTTTTTACAGGATGTCCTTACGGACCTGTCAGCGGAGAGTGAGGTGCTGGACGTGGAGTGTGAGGTGCAGGACCGCCTGGCACACAAGGTATGAGCGCGGACTCGTGTGTCTTGCCTGTGAATGCTGAC natural 31 45 0.9976726 0.998382 0.9980273 295 263 0.8983779 0.948623 0.9235005 0.9976726 0.998382 0.8983779 0.948623 0 0 0 0 0.9980273 0.9235005 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003458915 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001760197_000 ENSE00001760197 000 12 6878715 6878884 + 54 72 44 NA NA NA NA NA AAGATGGTAGGGCAGATGTGGTCCTCTCCCCCACCCCTCCACACCTCCACCACTTCTTTCTTTCGCTCTTTCCGGCTTGCCTTCTCCTCCACCTTCTCCTTCTTCTCCTTCAGGTCCTGCAAAGGAGAAAGAGGTCACCTTTCTCACCACAAATGGCTTGCAGCCCCTAA 6769548 6769718 NA NA NA NA NA NA TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT natural 12 19 0.85 0.85 0.85 87 100 0.9838095 0.7909685 0.887389 0.85 0.85 0.9838095 0.7909685 0 0 0 0 0.85 0.887389 0 0 0 FALSE FALSE NA NA NA NA NA LAG3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTMS NA NA NA ENSG00000159335 ENSE00003544822 NA NA NA NA NA NA NA 0.7789676 FALSE NA ENSE00001760197_001 ENSE00001760197 001 12 6878715 6878884 + 54 72 44 T C 6878733 447 19 AAGATGGTAGGGCAGATGTGGTCCTCTCCCCCACCCCTCCACACCTCCACCACTTCTTTCTTTCGCTCTTTCCGGCTTGCCTTCTCCTCCACCTTCTCCTTCTTCTCCTTCAGGTCCTGCAAAGGAGAAAGAGGTCACCTTTCTCACCACAGATGGCTTGCAGCCCCTAA 6769548 6769718 6769566 6769567 6769567 upstr_intron -36 -0.6481481 TTAGGGGCTGCAAGCCATCTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT mutant 12 11 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.85 0.9838095 0.7909685 0 0 NA NA 0.85 0.887389 0 NA NA NA FALSE 0 -0.175 . upstream_gene_variant MODIFIER LAG3 HGNC 6476 ENST00000203629 1 NA TTT T,C 1.647e-05 12:6769567 PTMS HGNC Symbol protein_coding 5436 ENSG00000159335 ENSE00003544822 intron_variant 1.556477 0.14015 0.04267 0 0.9149982 0.177312 0.7789676 FALSE 8.20506e-06 ENSE00001760197_003 ENSE00001760197 003 12 6878715 6878884 + 54 72 44 C T 6878754 449 40 AAGATGGTAGGGCAGATGTGGTCCTCTCCCCCACCCCTCCACACCTCCACCACTTCTTTCTTTCGCTCTTTCCGGCTTGCCTTCTCCTCCACCTTCTCCTTCTTCTCCTTCAGGTCCTGCAAAGGAGAAAAAGGTCACCTTTCTCACCACAAATGGCTTGCAGCCCCTAA 6769548 6769718 6769587 6769588 6769588 upstr_intron -15 -0.2592593 TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTTTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT mutant NA NA NA NA NA 91 133 0.995388 0.9988472 0.9971176 0.85 0.85 0.9838095 0.7909685 NA NA 0.01157849 0.2078787 0.85 0.887389 NA 0.1097286 NA FALSE NA 0.241 -0.33 . upstream_gene_variant MODIFIER LAG3 HGNC 6476 ENST00000203629 rs374959763 1 NA T:0 T:0.0001 TCT C,T 8.236e-06 12:6769588 PTMS HGNC Symbol protein_coding 5436 ENSG00000159335 ENSE00003544822 intron_variant 2.938819 0.18471 0.0332 0 0.8468854 0.280369 0.7789676 FALSE 4.10277e-06 ENSE00001760197_004 ENSE00001760197 004 12 6878715 6878884 + 54 72 44 C T 6878771 450 57 AAGATGGTAGGGCAGATGTGGTCCTCTCCCCCACCCCTCCACACCTCCACCACTTCTTTCTTTCGCTCTTTCCGGCTTGCCTTCTCCTCCACCTTCTCCTTCTTCTCCTTCAGATCCTGCAAAGGAGAAAGAGGTCACCTTTCTCACCACAAATGGCTTGCAGCCCCTAA 6769548 6769718 6769604 6769605 6769605 exon 3 0.04166667 TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGATCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT mutant NA NA NA NA NA 109 124 0.9880936 0.9662232 0.9771584 0.85 0.85 0.9838095 0.7909685 NA NA 0.004284101 0.1752548 0.85 0.887389 NA 0.08976943 NA FALSE NA 1 2.161 . upstream_gene_variant MODIFIER LAG3 HGNC 6476 ENST00000203629 rs368939007 1 NA T:0 T:0.0001 ACC C,T 2.471e-05 12:6769605 PTMS HGNC Symbol protein_coding 5436 ENSG00000159335 ENSE00003544822 splice_region_variant 2.295784 0.90999 0.63518 0.722319 0.9404032 0 0.7789676 FALSE 1.64125e-05 ENSE00001760197_012 ENSE00001760197 012 12 6878715 6878884 + 54 72 44 G C 6878846 458 132 AAGATGGTAGGGCAGATGTGGTCCTCTCCCCCACCCCTGCACACCTCCACCACTTCTTTCTTTCGCTCTTTCCGGCTTGCCTTCTCCTCCACCTTCTCCTTCTTCTCCTTCAGGTCCTGCAAAGGAGAAAGAGGTCACCTTTCTCACCACAAATGGCTTGCAGCCCCTAA 6769548 6769718 6769679 6769680 6769680 downstr_intron 6 1.139535 TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGCAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT mutant NA NA NA NA NA 22 46 1 1 1 0.85 0.85 0.9838095 0.7909685 NA NA 0.0161905 0.2090315 0.85 0.887389 NA 0.112611 NA FALSE NA 0.002 -0.166 . upstream_gene_variant MODIFIER LAG3 HGNC 6476 ENST00000203629 1 NA GGA G,C 1.647e-05 12:6769680 PTMS HGNC Symbol protein_coding 5436 ENSG00000159335 ENSE00003544822 splice_region_variant 0.683864 0.18333 0.08236 0.162113 0.8731717 0.270916 0.7789676 FALSE 1.64309e-05 ENSE00001760197_013 ENSE00001760197 013 12 6878715 6878884 + 54 72 44 G A 6878848 459 134 AAGATGGTAGGGCAGATGTGGTCCTCTCCCCCACCCTTCCACACCTCCACCACTTCTTTCTTTCGCTCTTTCCGGCTTGCCTTCTCCTCCACCTTCTCCTTCTTCTCCTTCAGGTCCTGCAAAGGAGAAAGAGGTCACCTTTCTCACCACAAATGGCTTGCAGCCCCTAA 6769548 6769718 6769681 6769682 6769682 downstr_intron 8 1.186047 TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAAGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT mutant NA NA NA NA NA 98 32 1 1 1 0.85 0.85 0.9838095 0.7909685 NA NA 0.0161905 0.2090315 0.85 0.887389 NA 0.112611 NA FALSE NA 0.002 0.031 . upstream_gene_variant MODIFIER LAG3 HGNC 6476 ENST00000203629 rs377468902 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 AGG G,A 4.118e-05 12:6769682 PTMS HGNC Symbol protein_coding 5436 ENSG00000159335 ENSE00003544822 splice_region_variant 1.061384 0.21842 0.09271 0.162113 0.9351197 0.270916 0.7789676 FALSE 2.87652e-05 ENSE00001760197_016 ENSE00001760197 016 12 6878715 6878884 + 54 72 44 C T 6878874 462 160 AAGATGGTAGAGCAGATGTGGTCCTCTCCCCCACCCCTCCACACCTCCACCACTTCTTTCTTTCGCTCTTTCCGGCTTGCCTTCTCCTCCACCTTCTCCTTCTTCTCCTTCAGGTCCTGCAAAGGAGAAAGAGGTCACCTTTCTCACCACAAATGGCTTGCAGCCCCTAA 6769548 6769718 6769707 6769708 6769708 downstr_intron 34 1.790698 TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCTCTACCATCTT TTAGGGGCTGCAAGCCATTTGTGGTGAGAAAGGTGACCTCTTTCTCCTTTGCAGGACCTGAAGGAGAAGAAGGAGAAGGTGGAGGAGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAGGTGTGGAGGGGTGGGGGAGAGGACCACATCTGCCCTACCATCTT mutant NA NA NA NA NA 142 122 0.9967465 0.9924871 0.9946168 0.85 0.85 0.9838095 0.7909685 NA NA 0.01293701 0.2015186 0.85 0.887389 NA 0.1072278 NA FALSE NA 0 -0.092 . upstream_gene_variant MODIFIER LAG3 HGNC 6476 ENST00000203629 1 NA CCC C,T 8.236e-06 12:6769708 PTMS HGNC Symbol protein_coding 5436 ENSG00000159335 ENSE00003544822 intron_variant 0.387615 0.17674 0.05903 0.12189 0.6745652 0.0565422 0.7789676 FALSE 4.13216e-06 ENSE00001760293_000 ENSE00001760293 000 9 131719181 131719350 + 50 81 39 NA NA NA NA NA CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 NA NA NA NA NA NA CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC natural 22 12 0.9983434 0.9960105 0.997177 1700 1778 0.9884951 0.9650937 0.9767944 0.9983434 0.9960105 0.9884951 0.9650937 0 0 0 0 0.997177 0.9767944 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003637202 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001760293_010 ENSE00001760293 010 9 131719181 131719350 + 50 81 39 G A 131719257 2848 77 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAATTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128956977 128956978 128956978 exon 27 0.3333333 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAATTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 474 689 0.9974383 0.9814208 0.9894295 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.008943112 0.01632706 0.997177 0.9767944 NA 0.01263509 NA FALSE NA 1 5.259 NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP188 NA NA NA ENSG00000095319 ENSE00003637202 synonymous_variant 1.000528 0.98564 0.97702 0.706548 0.7509584 0 0.9870793 TRUE 4.06898e-06 ENSE00001760293_021 ENSE00001760293 021 9 131719181 131719350 + 50 81 39 C T 131719332 2859 152 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTTCTTTCTTCTGCCTTTATC 128956901 128957071 128957052 128957053 128957053 downstr_intron 21 1.552632 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTTCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 1293 248 0.9994257 1 0.9997128 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.01093054 0.0349063 0.997177 0.9767944 NA 0.02291842 NA FALSE NA 0 -0.405 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 1 NA TCC C,T 8.236e-06 9:128957053 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 intron_variant 1.103168 0.20631 0.02279 0.062308 0.7781508 0.0736334 0.9870793 TRUE 4.45967e-06 ENSE00001760293_022 ENSE00001760293 022 9 131719181 131719350 + 50 81 39 C A 131719337 2860 157 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTATTCTGCCTTTATC 128956901 128957071 128957057 128957058 128957058 downstr_intron 26 1.684211 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTATTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 267 177 1 1 1 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.01150485 0.0349063 0.997177 0.9767944 NA 0.02320557 NA FALSE NA 0.004 0.555 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 1 NA TCT C,A 8.236e-06 9:128957058 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 intron_variant 1.172467 0.28594 0.25211 0.062308 0.7558777 0.0736334 0.9870793 TRUE NA ENSE00001760293_BRK ENSE00001760293 BRK 9 131719181 131719350 + 50 81 39 A,G; T,T NA NA NA CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCTTGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGCCTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 NA NA NA NA NA NA CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCTTGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGCCTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC control 509 132 0 0 0 363 145 0 0 0 0.9983434 0.9960105 0.9884951 0.9650937 -0.9983434 -0.9960105 -0.9884951 -0.9650937 0.997177 0.9767944 -0.997177 -0.9767944 0.02038254 TRUE TRUE NA NA NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP188 NA NA NA ENSG00000095319 ENSE00003637202 NA NA NA NA NA NA NA 0.9870793 TRUE NA ENSE00001760383_000 ENSE00001760383 000 11 129997608 129997777 + 53 75 42 NA NA NA NA NA ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGCCTCTTCCCATTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 NA NA NA NA NA NA AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT natural 18 26 0.9983962 0.9359682 0.9671822 2157 1249 0.9961062 0.9584332 0.9772697 0.9983962 0.9359682 0.9961062 0.9584332 0 0 0 0 0.9671822 0.9772697 0 0 0 FALSE FALSE NA NA NA NA NA APLP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APLP2 NA NA NA ENSG00000084234 ENSE00003541263 NA NA NA NA NA NA NA 0.521618 FALSE NA ENSE00001760383_001 ENSE00001760383 001 11 129997608 129997777 + 53 75 42 A G 129997626 3013 19 AGTTGTTTCGGGGTATTAGTCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127730 130127731 130127731 upstr_intron -35 -0.6415094 AGTTGTTTCGGGGTATTAGTCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 149 227 1 0.999664 0.999832 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.04123078 0.9671822 0.9772697 NA 0.02256229 NA FALSE NA 0 -0.014 . intron_variant MODIFIER APLP2 HGNC 598 ENST00000338167 8/16 1 NA AAT A,G 1.647e-05 11:130127731 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 intron_variant 0.204618 0.19111 0.0434 0.322412 0.4086197 0.199816 0.521618 FALSE 1.22027e-05 ENSE00001760383_003 ENSE00001760383 003 11 129997608 129997777 + 53 75 42 C T 129997637 3015 30 AGTTGTTTCGGGGTATTAATCACTGCTGATGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127741 130127742 130127742 upstr_intron -24 -0.4339623 AGTTGTTTCGGGGTATTAATCACTGCTGATGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 112 197 1 1 1 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.04156679 0.9671822 0.9772697 NA 0.0227303 NA FALSE NA 0 -1.858 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:130127742 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 intron_variant -0.490659 0.08052 0.00278 0.322412 0.5738981 0.170642 0.521618 FALSE 3.25058e-05 ENSE00001760383_004 ENSE00001760383 004 11 129997608 129997777 + 53 75 42 C A 129997637 3016 30 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGCCTCTTCCCATTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCTTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127741 130127742 130127742 upstr_intron -24 -0.4339623 AGTTGTTTCGGGGTATTAATCACTGCTGAAGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 153 41 0.9997307 1 0.9998654 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003624526 0.04156679 0.9671822 0.9772697 NA 0.02259566 NA FALSE NA 0 -1.858 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APLP2 NA NA NA ENSG00000084234 ENSE00003541263 intron_variant -0.490849 0.09011 0.01157 0.322412 0.5184068 0.170642 0.521618 FALSE 4.06322e-06 ENSE00001760383_005 ENSE00001760383 005 11 129997608 129997777 + 53 75 42 G A 129997638 3017 31 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGCCTCTTCCCATTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCTGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127742 130127743 130127743 upstr_intron -23 -0.4150943 AGTTGTTTCGGGGTATTAATCACTGCTGACAGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 1969 545 0.9940666 0.9916063 0.9928364 0.9983962 0.9359682 0.9961062 0.9584332 NA NA -0.002039631 0.03317312 0.9671822 0.9772697 NA 0.01556674 NA FALSE NA 0 -0.648 NA NA NA APLP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:130127743 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 intron_variant 0.085975 0.19032 0.00247 0.322412 0.5574057 0.170642 0.521618 FALSE 0.000158444 ENSE00001760383_009 ENSE00001760383 009 11 129997608 129997777 + 53 75 42 C A 129997657 3021 50 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGCCTCTTCCCATTCCTTCTTTACCTATAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127761 130127762 130127762 upstr_intron -4 -0.05660377 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTATAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 775 16 0.9991473 1 0.9995736 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003041082 0.04156679 0.9671822 0.9772697 NA 0.02230393 NA FALSE NA 0.161 0.906 . splice_region_variant&intron_variant LOW APLP2 HGNC 598 ENST00000338167 8/16 rs367628396 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0.0005 A:0 TCT C,A 3.295e-05 11:130127762 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 splice_region_variant 2.159596 0.93529 0.73553 0.322412 0.9210535 0.978107 0.521618 FALSE 2.84312e-05 ENSE00001760383_010 ENSE00001760383 010 11 129997608 129997777 + 53 75 42 A G 129997663 3022 56 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTGAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127767 130127768 130127768 exon 3 0.04 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTGAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 117 261 0.9975115 1 0.9987557 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.00140531 0.04156679 0.9671822 0.9772697 NA 0.02148605 NA FALSE NA 0.996 0.43 . splice_region_variant&synonymous_variant LOW APLP2 HGNC 598 ENST00000338167 9/17 1 NA TAA A,G 8.236e-06 11:130127768 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 splice_region_variant 1.757283 0.964 0.66624 0.732398 0.8614345 0 0.521618 FALSE 4.06151e-06 ENSE00001760383_011 ENSE00001760383 011 11 129997608 129997777 + 53 75 42 A G 129997667 3023 60 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGGAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127771 130127772 130127772 exon 7 0.09333333 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGGAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 110 124 1 1 1 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.04156679 0.9671822 0.9772697 NA 0.0227303 NA FALSE NA 1 8.726 . missense_variant MODERATE APLP2 HGNC 598 ENST00000338167 9/17 1 deleterious(0.03) probably_damaging(0.937) NA GAA A,G 8.236e-06 11:130127772 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 6.72291 0.99248 0.99364 0.732398 0.9986269 0 0.521618 FALSE 8.12249e-06 ENSE00001760383_012 ENSE00001760383 012 11 129997608 129997777 + 53 75 42 G T 129997670 3024 63 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGTAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127774 130127775 130127775 exon 10 0.1333333 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGTAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 18 16 1 1 1 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.04156679 0.9671822 0.9772697 NA 0.0227303 NA FALSE NA 1 9.226 . stop_gained HIGH APLP2 HGNC 598 ENST00000338167 9/17 1 NA HC GGA G,T 8.236e-06 11:130127775 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 stop_gained 15.5341 0.99449 0.99502 0.732398 0.9968925 0 0.521618 FALSE 4.06128e-06 ENSE00001760383_013 ENSE00001760383 013 11 129997608 129997777 + 53 75 42 A C 129997672 3025 65 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGACTGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127776 130127777 130127777 exon 12 0.16 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGACTGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 399 1665 0.9987557 0.9923497 0.9955527 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.0026495 0.03391651 0.9671822 0.9772697 NA 0.018283 NA FALSE NA 0.973 0.268 . missense_variant MODERATE APLP2 HGNC 598 ENST00000338167 9/17 1 deleterious(0.04) benign(0.272) NA AAT A,C 1.647e-05 11:130127777 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 2.582722 0.95437 0.89231 0.732398 0.9895543 0 0.521618 FALSE 8.12222e-06 ENSE00001760383_014 ENSE00001760383 014 11 129997608 129997777 + 53 75 42 T A 129997673 3026 66 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGCCTCTTCCCTTTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127777 130127778 130127778 exon 13 0.1733333 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAAAGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 312 132 0.9960471 1 0.9980236 0.9983962 0.9359682 0.9961062 0.9584332 NA NA -5.905214e-05 0.04156679 0.9671822 0.9772697 NA 0.02075387 NA FALSE NA 1 7.495 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:130127778 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 7.206829 0.99245 0.99048 0.732398 0.9958011 0 0.521618 FALSE 4.06121e-06 ENSE00001760383_015 ENSE00001760383 015 11 129997608 129997777 + 53 75 42 T C 129997673 3027 66 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGCCTCTTCCCGTTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127777 130127778 130127778 exon 13 0.1733333 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAACGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 392 271 0.8725236 1 0.9362618 0.9983962 0.9359682 0.9961062 0.9584332 NA NA -0.1235826 0.04156679 0.9671822 0.9772697 NA -0.04100792 NA FALSE NA 1 7.495 NA NA NA APLP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APLP2 NA NA NA ENSG00000084234 ENSE00003541263 missense_variant 6.765536 0.99228 0.98912 0.732398 0.9952477 0 0.521618 FALSE 8.12242e-06 ENSE00001760383_016 ENSE00001760383 016 11 129997608 129997777 + 53 75 42 G T 129997674 3028 67 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATTGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127778 130127779 130127779 exon 14 0.1866667 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATTGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 494 391 0.997218 1 0.998609 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.001111827 0.04156679 0.9671822 0.9772697 NA 0.02133931 NA FALSE NA 1 9.226 . missense_variant MODERATE APLP2 HGNC 598 ENST00000338167 9/17 1 deleterious(0) probably_damaging(0.947) NA TGG G,T 8.236e-06 11:130127779 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 7.495344 0.99449 0.99502 0.732398 0.9877544 0 0.521618 FALSE 4.06131e-06 ENSE00001760383_017 ENSE00001760383 017 11 129997608 129997777 + 53 75 42 G A 129997682 3029 75 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGTCTCTTCCCATTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127786 130127787 130127787 exon 22 0.2933333 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGACAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 40 343 1 0.9995386 0.9997693 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.04110542 0.9671822 0.9772697 NA 0.02249962 NA FALSE NA 1 9.226 . missense_variant MODERATE APLP2 HGNC 598 ENST00000338167 9/17 1 deleterious(0) probably_damaging(0.961) NA GGC G,A 8.236e-06 11:130127787 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 7.425514 0.99435 0.99419 0.732398 0.999334 0 0.521618 FALSE 4.06118e-06 ENSE00001760383_018 ENSE00001760383 018 11 129997608 129997777 + 53 75 42 C T 129997688 3030 81 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGTTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127792 130127793 130127793 exon 28 0.3733333 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGTTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 736 1189 0.9864346 0.9965684 0.9915015 0.9983962 0.9359682 0.9961062 0.9584332 NA NA -0.009671626 0.03813521 0.9671822 0.9772697 NA 0.01423179 NA FALSE NA 0.999 2.671 . missense_variant MODERATE APLP2 HGNC 598 ENST00000338167 9/17 1 tolerated(0.46) benign(0.18) NA GCT C,T 8.236e-06 11:130127793 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 2.832823 0.98583 0.94549 0.732398 0.9833998 0 0.521618 FALSE 8.12255e-06 ENSE00001760383_019 ENSE00001760383 019 11 129997608 129997777 + 53 75 42 T C 129997696 3031 89 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTGGCTTGAAGCTCTGCCTCTTCCCATTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127800 130127801 130127801 exon 36 0.48 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCCAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 94 988 0.9153228 0.9978133 0.956568 0.9983962 0.9359682 0.9961062 0.9584332 NA NA -0.08078343 0.03938012 0.9671822 0.9772697 NA -0.02070165 NA FALSE NA 0.001 -1.628 . synonymous_variant LOW APLP2 HGNC 598 ENST00000338167 9/17 rs376761628 1 NA CTA T,C 3.295e-05 11:130127801 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 synonymous_variant 0.435284 0.68951 0.07331 0.732398 0.5066983 0 0.521618 FALSE 4.06157e-06 ENSE00001760383_020 ENSE00001760383 020 11 129997608 129997777 + 53 75 42 A G 129997697 3032 90 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTGAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127801 130127802 130127802 exon 37 0.4933333 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTGAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 115 979 1 1 1 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.04156679 0.9671822 0.9772697 NA 0.0227303 NA FALSE NA 1 5.626 rs143884497 missense_variant MODERATE APLP2 HGNC 598 ENST00000338167 9/17 rs143884497 1 deleterious(0) benign(0.099) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 G:0.0002 G:0 TAA A,G 2.471e-05 11:130127802 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 4.696775 0.98121 0.9444 0.732398 0.9981842 0 0.521618 FALSE 2.03074e-05 ENSE00001760383_021 ENSE00001760383 021 11 129997608 129997777 + 53 75 42 G C 129997699 3033 92 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTGTTAGCTTGAAGCTCTGCCTCTTCCCATTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127803 130127804 130127804 exon -37 0.52 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAACAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 415 197 1 0.9991963 0.9995982 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.04076313 0.9671822 0.9772697 NA 0.02232847 NA FALSE NA 1 1.28 . missense_variant MODERATE APLP2 HGNC 598 ENST00000338167 9/17 1 deleterious(0) benign(0.41) NA AGA G,C 8.236e-06 11:130127804 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 6.156441 0.98111 0.94907 0.732398 0.9981706 0 0.521618 FALSE 4.06138e-06 ENSE00001760383_022 ENSE00001760383 022 11 129997608 129997777 + 53 75 42 A G 129997710 3034 103 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAGAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127814 130127815 130127815 exon -26 0.6666667 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAGAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 1148 430 0.9879241 0.979568 0.983746 0.9983962 0.9359682 0.9961062 0.9584332 NA NA -0.008182103 0.02113475 0.9671822 0.9772697 NA 0.006476326 NA FALSE NA 1 6.935 . missense_variant MODERATE APLP2 HGNC 598 ENST00000338167 9/17 1 tolerated(0.37) benign(0.391) NA AAA A,G 2.471e-05 11:130127815 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 missense_variant 4.544082 0.99248 0.985 0.732398 0.9984475 0 0.521618 FALSE 2.03103e-05 ENSE00001760383_023 ENSE00001760383 023 11 129997608 129997777 + 53 75 42 G A 129997717 3035 110 ATGGTCAGGCTGAAAGCTATGTCCCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTTTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGCCTCTTCCCATTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127821 130127822 130127822 exon -19 0.76 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAAAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 1185 236 0.9993528 0.9988631 0.999108 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003246602 0.04042993 0.9671822 0.9772697 NA 0.02183827 NA FALSE NA 1 2.026 . synonymous_variant LOW APLP2 HGNC 598 ENST00000338167 9/17 1 NA AGA G,A 8.236e-06 11:130127822 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 synonymous_variant 1.495536 0.97801 0.89536 0.732398 0.5620393 0 0.521618 FALSE 4.06223e-06 ENSE00001760383_024 ENSE00001760383 024 11 129997608 129997777 + 53 75 42 C T 129997727 3036 120 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTTTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127831 130127832 130127832 exon -9 0.8933333 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTTTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 102 406 1 0.998103 0.9990515 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.03966975 0.9671822 0.9772697 NA 0.02178178 NA FALSE NA 0.991 2.898 . synonymous_variant LOW APLP2 HGNC 598 ENST00000338167 9/17 1 NA TCT C,T 8.236e-06 11:130127832 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 synonymous_variant 1.844088 0.99004 0.94975 0.732398 0.8155167 0 0.521618 FALSE 4.06365e-06 ENSE00001760383_025 ENSE00001760383 025 11 129997608 129997777 + 53 75 42 C T 129997745 3037 138 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCTTTCTCTGGGGACATAGCTTTCAGCCTGACCAT 130127712 130127882 130127849 130127850 130127850 downstr_intron 10 1.243902 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCTTTCTCTGGGGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 152 1061 1 0.9980025 0.9990012 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.003893813 0.03956927 0.9671822 0.9772697 NA 0.02173154 NA FALSE NA 0 -1.357 . intron_variant MODIFIER APLP2 HGNC 598 ENST00000338167 9/16 1 NA CCT C,T 8.237e-06 11:130127850 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 intron_variant -0.169261 0.19657 0.0215 0.088506 0.3940292 0.170602 0.521618 FALSE 4.07844e-06 ENSE00001760383_027 ENSE00001760383 027 11 129997608 129997777 + 53 75 42 G A 129997754 3039 147 ATGGTCAGGCTGAAAGCTATGTCTCCAGAGAAGGCATCTTACCTGAATCAGAGTCTGCCTCTCTGCTTTGGGGAGGTTCTTAGCTTGAAGCTCTGCCTCTTCCCATTCCTTCTTTACCTAGAACAAAGGTCAAAAACGCCGTCAGCAGTGATTAATACCCCGAAACAACT 130127712 130127882 130127858 130127859 130127859 downstr_intron 19 1.463415 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGAGACATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 771 259 0.9937972 0.9923888 0.993093 0.9983962 0.9359682 0.9961062 0.9584332 NA NA -0.002309036 0.03395555 0.9671822 0.9772697 NA 0.01582326 NA FALSE NA 0.006 0.891 . intron_variant MODIFIER APLP2 HGNC 598 ENST00000338167 9/16 1 NA GGG G,A 8.237e-06 11:130127859 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 intron_variant 0.065669 0.20883 0.07467 0.099367 0.5570663 0.172087 0.521618 FALSE 4.10229e-06 ENSE00001760383_028 ENSE00001760383 028 11 129997608 129997777 + 53 75 42 C T 129997757 3040 150 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGATATAGCTTTCAGCCTGACCAT 130127712 130127882 130127861 130127862 130127862 downstr_intron 22 1.536585 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGATATAGCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 1641 86 0.9990431 0.9901491 0.9945961 0.9983962 0.9359682 0.9961062 0.9584332 NA NA 0.002936922 0.03171588 0.9671822 0.9772697 NA 0.0173264 NA FALSE NA 0 -0.197 . intron_variant MODIFIER APLP2 HGNC 598 ENST00000338167 9/16 1 NA ACA C,T 8.238e-06 11:130127862 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 intron_variant 0.39766 0.2044 0.17209 0.099367 0.6330433 0.172087 0.521618 FALSE NA ENSE00001760383_029 ENSE00001760383 029 11 129997608 129997777 + 53 75 42 G T 129997761 3041 154 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATATCTTTCAGCCTGACCAT 130127712 130127882 130127865 130127866 130127866 downstr_intron 26 1.634146 AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATATCTTTCAGCCTGACCAT AGTTGTTTCGGGGTATTAATCACTGCTGACGGCGTTTTTGACCTTTGTTCTAGGTAAAGAAGGAATGGGAAGAGGCAGAGCTTCAAGCTAAGAACCTCCCCAAAGCAGAGAGGCAGACTCTGATTCAGGTAAGATGCCTTCTCTGGGGACATAGCTTTCAGCCTGACCAT mutant NA NA NA NA NA 1138 34 0.95781 0.9988728 0.9783414 0.9983962 0.9359682 0.9961062 0.9584332 NA NA -0.0382962 0.04043955 0.9671822 0.9772697 NA 0.001071674 NA FALSE NA 0 -0.807 . intron_variant MODIFIER APLP2 HGNC 598 ENST00000338167 9/16 1 NA AGC G,T 8.238e-06 11:130127866 APLP2 HGNC Symbol protein_coding 74974 ENSG00000084234 ENSE00003541263 intron_variant 0.143723 0.16439 0.11678 0.099367 0.6900336 0.110172 0.521618 FALSE NA ENSE00001760510_000 ENSE00001760510 000 10 27031376 27031545 + 50 81 39 NA NA NA NA NA GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 NA NA NA NA NA NA CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC natural 73 54 0.9959049 0.9830686 0.9894868 2687 5216 0.990823 0.9984382 0.9946306 0.9959049 0.9830686 0.990823 0.9984382 0 0 0 0 0.9894868 0.9946306 0 0 0 FALSE FALSE NA NA NA NA NA PDSS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDSS1 NA NA NA ENSG00000148459 ENSE00003544636 NA NA NA NA NA NA NA 0.2631519 FALSE NA ENSE00001760510_001 ENSE00001760510 001 10 27031376 27031545 + 50 81 39 T C 27031391 649 16 GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTGTTTATTTCTCTTGGG 26742446 26742616 26742461 26742462 26742462 upstr_intron -35 -0.68 CCCAAGAGAAATAAACAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 233 467 1 0.9994275 0.9997138 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.009176989 0.0009893163 0.9894868 0.9946306 NA 0.005083152 NA FALSE NA 0.302 -0.002 . intron_variant MODIFIER PDSS1 HGNC 17759 ENST00000376203 8/9 1 NA ATA T,C 1.672e-05 10:26742462 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant 0.158768 0.50419 0.15365 0.121938 0.2933091 0.087858 0.2631519 FALSE 4.34016e-06 ENSE00001760510_002 ENSE00001760510 002 10 27031376 27031545 + 50 81 39 G T 27031403 650 28 CCCAAGAGAAATAAATAGATTTTCTCATATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC 26742446 26742616 26742473 26742474 26742474 upstr_intron -23 -0.44 CCCAAGAGAAATAAATAGATTTTCTCATATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 203 272 1 1 1 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.009176989 0.001561808 0.9894868 0.9946306 NA 0.005369398 NA FALSE NA 0.001 -0.507 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:26742474 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant -0.00815 0.26593 0.07761 0.099367 0.7844602 0.067157 0.2631519 FALSE 2.90153e-05 ENSE00001760510_003 ENSE00001760510 003 10 27031376 27031545 + 50 81 39 G A 27031403 651 28 GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATTTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742473 26742474 26742474 upstr_intron -23 -0.44 CCCAAGAGAAATAAATAGATTTTCTCAAATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 457 84 0.9987324 1 0.9993662 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.007909406 0.001561808 0.9894868 0.9946306 NA 0.004735607 NA FALSE NA 0.001 -0.507 NA NA NA PDSS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDSS1 NA NA NA ENSG00000148459 ENSE00003544636 intron_variant 0.133725 0.26175 0.07574 0.099367 0.8078655 0.067157 0.2631519 FALSE 4.14504e-06 ENSE00001760510_004 ENSE00001760510 004 10 27031376 27031545 + 50 81 39 T C 27031415 652 40 GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAGAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742485 26742486 26742486 upstr_intron -11 -0.2 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTCTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 687 739 0.9118938 1 0.9559469 0.9959049 0.9830686 0.990823 0.9984382 NA NA -0.0789292 0.001561808 0.9894868 0.9946306 NA -0.0386837 NA FALSE NA 0.002 0.549 rs142244210 intron_variant MODIFIER PDSS1 HGNC 17759 ENST00000376203 8/9 rs142244210 1 C:0.0016 C:0.003 C:0 NA C:0.004 C:0 C:0 C:0.0025 C:0 TTT T,C 0.0002966 10:26742486 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant 0.589284 0.90144 0.47025 0.099367 0.5186987 0.1546 0.2631519 FALSE 0.000172581 ENSE00001760510_005 ENSE00001760510 005 10 27031376 27031545 + 50 81 39 T C 27031417 653 42 GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAGAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742487 26742488 26742488 upstr_intron -9 -0.16 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTCTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 344 239 1 1 1 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.009176989 0.001561808 0.9894868 0.9946306 NA 0.005369398 NA FALSE NA 0 -0.914 . intron_variant MODIFIER PDSS1 HGNC 17759 ENST00000376203 8/9 1 NA TTT T,C 8.237e-06 10:26742488 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant 0.193855 0.82981 0.16679 0.099367 0.496072 0.1546 0.2631519 FALSE 4.10283e-06 ENSE00001760510_006 ENSE00001760510 006 10 27031376 27031545 + 50 81 39 T C 27031426 654 51 GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAGCTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742496 26742497 26742497 exon 1 0.01234568 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGCTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 179 695 0.9955482 0.8774468 0.9364975 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.004725157 -0.1209914 0.9894868 0.9946306 NA -0.05813313 NA FALSE NA 1 6.004 . missense_variant&splice_region_variant MODERATE PDSS1 HGNC 17759 ENST00000376203 9/10 1 benign(0) NA GTT T,C 8.237e-06 10:26742497 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 missense_variant 6.18316 0.95741 0.94476 0.706298 0.7993191 0 0.2631519 FALSE 2.04619e-05 ENSE00001760510_007 ENSE00001760510 007 10 27031376 27031545 + 50 81 39 A G 27031431 655 56 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCGGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC 26742446 26742616 26742501 26742502 26742502 exon 6 0.07407407 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCGGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 1508 561 0.9977683 0.9938746 0.9958215 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.006945293 -0.004563593 0.9894868 0.9946306 NA 0.00119085 NA FALSE NA 1 2.452 . missense_variant MODERATE PDSS1 HGNC 17759 ENST00000376203 9/10 rs200147190&COSM1505218 1 benign(0.002) G:0.0006 G:0 G:0 NA G:0.003 G:0 G:0 CAG A,G 0.0002471 10:26742502 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 synonymous_variant 0.949503 0.93084 0.86696 0.706298 0.9936002 0 0.2631519 FALSE 0.000208396 ENSE00001760510_008 ENSE00001760510 008 10 27031376 27031545 + 50 81 39 A G 27031435 656 60 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAGTGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC 26742446 26742616 26742505 26742506 26742506 exon 10 0.1234568 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAGTGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 28 565 0.8 0.9249161 0.8624581 0.9959049 0.9830686 0.990823 0.9984382 NA NA -0.190823 -0.07352208 0.9894868 0.9946306 NA -0.1321725 NA FALSE NA 1 5.167 . missense_variant MODERATE PDSS1 HGNC 17759 ENST00000376203 9/10 1 benign(0) NA AAT A,G 8.237e-06 10:26742506 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 missense_variant 3.67951 0.96037 0.92944 0.706298 0.9764965 0 0.2631519 FALSE 4.08343e-06 ENSE00001760510_009 ENSE00001760510 009 10 27031376 27031545 + 50 81 39 A C 27031450 657 75 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCCTGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC 26742446 26742616 26742520 26742521 26742521 exon 25 0.308642 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCCTGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 553 650 0.9982001 1 0.9991001 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.007377131 0.001561808 0.9894868 0.9946306 NA 0.00446947 NA FALSE NA 1 8.983 . missense_variant MODERATE PDSS1 HGNC 17759 ENST00000376203 9/10 1 benign(0.063) NA CAT A,C 8.237e-06 10:26742521 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 missense_variant 2.936363 0.97157 0.98311 0.706298 0.9156254 0 0.2631519 FALSE 4.07837e-06 ENSE00001760510_011 ENSE00001760510 011 10 27031376 27031545 + 50 81 39 G A 27031454 659 79 GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTTGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742524 26742525 26742525 exon 29 0.3580247 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCAACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 407 220 0.9987803 1 0.9993901 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.007957262 0.001561808 0.9894868 0.9946306 NA 0.004759535 NA FALSE NA 1 9.49 rs116148064 synonymous_variant LOW PDSS1 HGNC 17759 ENST00000376203 9/10 rs116148064 1 A:0.0016 A:0.0061 A:0 NA A:0 A:0 A:0 A:0.0034 A:0.0001 CGA G,A 0.0003871 10:26742525 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 missense_variant 7.68313 0.9768 0.98324 0.75658 0.9995647 0 0.2631519 FALSE 0.000301797 ENSE00001760510_013 ENSE00001760510 013 10 27031376 27031545 + 50 81 39 G A 27031457 661 82 GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACTGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742527 26742528 26742528 exon 32 0.3950617 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACAGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 355 668 1 0.9996574 0.9998287 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.009176989 0.001219247 0.9894868 0.9946306 NA 0.005198118 NA FALSE NA 1 9.49 . synonymous_variant LOW PDSS1 HGNC 17759 ENST00000376203 9/10 1 NA CGG G,A 5.766e-05 10:26742528 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 missense_variant 7.737645 0.9768 0.98324 0.75658 0.9995047 0 0.2631519 FALSE 4.48511e-05 ENSE00001760510_015 ENSE00001760510 015 10 27031376 27031545 + 50 81 39 G A 27031498 663 123 GTTCCTGCTGCTGCCTTTTTTTTAAAAAAACAGTCTTACCTGTAGTATATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742568 26742569 26742569 exon -9 0.9012346 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATATACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 71 112 1 1 1 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.009176989 0.001561808 0.9894868 0.9946306 NA 0.005369398 NA FALSE NA 1 7.66 . missense_variant MODERATE PDSS1 HGNC 17759 ENST00000376203 9/10 1 possibly_damaging(0.588) NA TGT G,A 8.236e-06 10:26742569 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 missense_variant 4.710671 0.96652 0.97291 0.75658 0.9814912 0 0.2631519 FALSE 1.22416e-05 ENSE00001760510_016 ENSE00001760510 016 10 27031376 27031545 + 50 81 39 T G 27031518 664 143 GTTCCTGCTGCTGCCTTTTTTTTAAAACAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742588 26742589 26742589 downstr_intron 12 1.315789 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTGTTTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 771 307 0.9553114 0.9970969 0.9762042 0.9959049 0.9830686 0.990823 0.9984382 NA NA -0.0355116 -0.001341294 0.9894868 0.9946306 NA -0.01842645 NA FALSE NA 0.075 1.588 . intron_variant MODIFIER PDSS1 HGNC 17759 ENST00000376203 9/9 1 NA TTT T,G 8.237e-06 10:26742589 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant 1.305326 0.40152 0.21842 0.099367 0.7450554 0.128118 0.2631519 FALSE 4.09661e-06 ENSE00001760510_017 ENSE00001760510 017 10 27031376 27031545 + 50 81 39 T C 27031520 665 145 GTTCCTGCTGCTGCCTTTTTTTTAAGAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742590 26742591 26742591 downstr_intron 14 1.368421 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTCTTAAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 743 5393 0.9938315 0.9941903 0.9940109 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.003008468 -0.004247856 0.9894868 0.9946306 NA -0.000619694 NA FALSE NA 0 -0.231 . intron_variant MODIFIER PDSS1 HGNC 17759 ENST00000376203 9/9 1 NA TTT ,C 8.237e-06 10:26742591 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant 1.032466 0.34184 0.03853 0.099367 0.7028006 0.129137 0.2631519 FALSE NA ENSE00001760510_018 ENSE00001760510 018 10 27031376 27031545 + 50 81 39 A T 27031523 666 148 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTTAAAAAAAGGCAGCAGCAGGAAC 26742446 26742616 26742593 26742594 26742594 downstr_intron 17 1.447368 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTTAAAAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 2145 763 0.9889545 1 0.9944773 0.9959049 0.9830686 0.990823 0.9984382 NA NA -0.001868494 0.001561808 0.9894868 0.9946306 NA -0.0001533429 NA FALSE NA 0 0.083 . intron_variant MODIFIER PDSS1 HGNC 17759 ENST00000376203 9/9 rs199894179 1 T:0.0044 T:0.0151 T:0 NA T:0.001 T:0 T:0.001 T:0.0011 T:0.0001 TAA A,T 0.001244 10:26742594 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant 0.202884 0.17486 0.11137 0.099367 0.7897551 0.0447681 0.2631519 FALSE 0.00114201 ENSE00001760510_019 ENSE00001760510 019 10 27031376 27031545 + 50 81 39 A C 27031526 667 151 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAACAAAAGGCAGCAGCAGGAAC 26742446 26742616 26742596 26742597 26742597 downstr_intron 20 1.526316 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAACAAAAGGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 499 712 0.9980876 0.9988696 0.9984786 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.007264549 0.0004313869 0.9894868 0.9946306 NA 0.003847968 NA FALSE NA 0 -0.121 . intron_variant MODIFIER PDSS1 HGNC 17759 ENST00000376203 9/9 1 NA AAA A,C 8.237e-06 10:26742597 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant -0.14647 0.26356 0.18819 0.099367 0.5200121 0.0447347 0.2631519 FALSE 2.87846e-05 ENSE00001760510_020 ENSE00001760510 020 10 27031376 27031545 + 50 81 39 G C 27031531 668 156 GTTCCTGCTGCTGCGTTTTTTTTAAAAAAACAGTCTTACCTGTAGTACATACTGTCGAGCTCTGTCTACATCTCCAGGCAAACTGAACCGTCGCATGATCATAGCATTCATTTCTGGGAACTAACAAAAAAAGAGAGAAAATCTGAGAAAATCTATTTATTTCTCTTGGG 26742446 26742616 26742601 26742602 26742602 downstr_intron 25 1.657895 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAACGCAGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 126 1154 1 1 1 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.009176989 0.001561808 0.9894868 0.9946306 NA 0.005369398 NA FALSE NA 0 -0.098 NA NA NA PDSS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:26742602 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant 0.033734 0.25374 0.24446 0.099367 0.5943722 0.0447347 0.2631519 FALSE 0.00618481 ENSE00001760510_022 ENSE00001760510 022 10 27031376 27031545 + 50 81 39 A G 27031534 670 159 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCGGCAGCAGGAAC 26742446 26742616 26742604 26742605 26742605 downstr_intron 28 1.736842 CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCGGCAGCAGGAAC CCCAAGAGAAATAAATAGATTTTCTCAGATTTTCTCTCTTTTTTTGTTAGTTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTAGACAGAGCTCGACAGTATGTACTACAGGTAAGACTGTTTTTTTAAAAAAAAGGCAGCAGCAGGAAC mutant NA NA NA NA NA 320 555 1 1 1 0.9959049 0.9830686 0.990823 0.9984382 NA NA 0.009176989 0.001561808 0.9894868 0.9946306 NA 0.005369398 NA FALSE NA 0 0.263 . intron_variant MODIFIER PDSS1 HGNC 17759 ENST00000376203 9/9 1 NA CAG A,G 8.237e-06 10:26742605 PDSS1 HGNC Symbol protein_coding 49139 ENSG00000148459 ENSE00003544636 intron_variant 0.348491 0.20456 0.09813 0.099367 0.6474158 0.0447347 0.2631519 FALSE 4.14724e-06 ENSE00001760884_000 ENSE00001760884 000 12 53042759 53042928 - 32 96 42 NA NA NA NA NA AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 NA NA NA NA NA NA GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT natural 917 1663 0.8529705 0.8493319 0.8511512 3481 4356 0.8423389 0.7940301 0.8181845 0.8529705 0.8493319 0.8423389 0.7940301 0 0 0 0 0.8511512 0.8181845 0 0 0 FALSE FALSE NA NA NA NA NA KRT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT2 NA NA NA ENSG00000172867 ENSE00003499848 NA NA NA NA NA NA NA 0.06734992 FALSE NA ENSE00001760884_002 ENSE00001760884 002 12 53042759 53042928 - 32 96 42 C T 53042774 1775 155 AGTAAGGGACTGTCCTGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52648989 52648990 52648990 downstr_intron 17 1.548387 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCAGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 97 174 0.1655081 0.06815156 0.1168299 0.8529705 0.8493319 0.8423389 0.7940301 NA NA -0.6768307 -0.7258785 0.8511512 0.8181845 NA -0.7013546 NA TRUE NA 0 -1.136 . intron_variant MODIFIER KRT2 HGNC 6439 ENST00000309680 4/8 1 NA CCG C,T 8.236e-06 12:52648990 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 intron_variant -0.885585 0.07938 0.00395 0.053691 0.433975 0.0697267 0.06734992 FALSE 1.21865e-05 ENSE00001760884_003 ENSE00001760884 003 12 53042759 53042928 - 32 96 42 G A 53042775 1776 154 AGTAAGGGACTGTCCCAGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52648990 52648991 52648991 downstr_intron 16 1.516129 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCTGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 27 49 0.85 0.85 0.85 456 404 0.806342 0.8088588 0.8076004 0.8529705 0.8493319 0.8423389 0.7940301 -0.002970471 0.000668066 -0.03599685 0.01482874 0.8511512 0.8181845 -0.001151203 -0.01058405 0.009432849 FALSE FALSE 0 0.072 rs184298897 intron_variant MODIFIER KRT2 HGNC 6439 ENST00000309680 4/8 rs184298897 1 A:0.0012 A:0.0038 A:0 NA A:0 A:0.001 A:0 A:0.0066 A:0 CGG G,A 0.0006589 12:52648991 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 intron_variant -0.342208 0.15419 0.01267 0.053691 0.3187674 0.0697267 0.06734992 FALSE 0.000560556 ENSE00001760884_004 ENSE00001760884 004 12 53042759 53042928 - 32 96 42 C T 53042783 1777 146 AGTAAGGGACTGTCCCGGAGCAGCTTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52648998 52648999 52648999 downstr_intron 8 1.258065 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAAGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 154 151 1 0.9883717 0.9941858 0.8529705 0.8493319 0.8423389 0.7940301 NA NA 0.1576611 0.1943416 0.8511512 0.8181845 NA 0.1760014 NA FALSE NA 0 -0.644 . splice_region_variant&intron_variant LOW KRT2 HGNC 6439 ENST00000309680 4/8 1 NA CCT C,T 8.236e-05 12:52648999 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 splice_region_variant 0.51935 0.37218 0.02209 0.053691 0.5631332 0.11252 0.06734992 FALSE 6.49783e-05 ENSE00001760884_005 ENSE00001760884 005 12 53042759 53042928 - 32 96 42 C T 53042786 1778 143 AGTAAGGGACTGTCCCGGAGCAGCCTCTTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649001 52649002 52649002 downstr_intron 5 1.16129 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAAGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 73 329 0 0 0 32 337 0 0 0 0.8529705 0.8493319 0.8423389 0.7940301 -0.8529705 -0.8493319 -0.8423389 -0.7940301 0.8511512 0.8181845 -0.8511512 -0.8181845 0.03296674 TRUE TRUE 0.932 2.154 . splice_region_variant&intron_variant LOW KRT2 HGNC 6439 ENST00000309680 4/8 1 NA CCT C,T 8.236e-06 12:52649002 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 splice_region_variant 1.309449 0.98758 0.75341 0.053691 0.8391664 0.970534 0.06734992 FALSE 4.06091e-06 ENSE00001760884_007 ENSE00001760884 007 12 53042759 53042928 - 32 96 42 G A 53042792 1780 137 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCACATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649007 52649008 52649008 exon -2 0.9895833 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGTGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 15 20 0.1637277 0.3271996 0.2454637 NA NA NA NA NA 0.8529705 0.8493319 0.8423389 0.7940301 -0.6892427 -0.5221323 NA NA 0.8511512 0.8181845 -0.6056875 NA NA NA TRUE 0 -0.962 . missense_variant&splice_region_variant MODERATE KRT2 HGNC 6439 ENST00000309680 4/9 rs199831972 1 tolerated(0.08) benign(0.28) A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 CGC G,A 9.884e-05 12:52649008 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 missense_variant 2.619326 0.85966 0.20247 0.497415 0.9971407 0 0.06734992 FALSE 0.000105581 ENSE00001760884_008 ENSE00001760884 008 12 53042759 53042928 - 32 96 42 A G 53042794 1781 135 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCGTCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649009 52649010 52649010 exon -4 0.96875 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGACGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 16 92 0.85 0.85 0.85 636 134 0.9318295 0.9795616 0.9556955 0.8529705 0.8493319 0.8423389 0.7940301 -0.002970471 0.000668066 0.08949066 0.1855315 0.8511512 0.8181845 -0.001151203 0.1375111 0.1386623 FALSE FALSE 0 -6.129 . synonymous_variant LOW KRT2 HGNC 6439 ENST00000309680 4/9 rs573176948 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAT A,G 0.0003953 12:52649010 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 synonymous_variant -0.725181 0.10307 0.02595 0.497415 0.2165508 0 0.06734992 FALSE 0.000389835 ENSE00001760884_011 ENSE00001760884 011 12 53042759 53042928 - 32 96 42 A G 53042818 1784 111 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCGATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649033 52649034 52649034 exon -28 0.71875 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATCGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 653 95 0.9941017 0.9991948 0.9966483 0.8529705 0.8493319 0.8423389 0.7940301 NA NA 0.1517629 0.2051647 0.8511512 0.8181845 NA 0.1784638 NA FALSE NA 0 -4.36 . synonymous_variant LOW KRT2 HGNC 6439 ENST00000309680 4/9 1 NA CAA A,G 8.236e-06 12:52649034 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 synonymous_variant -0.227008 0.17373 0.01605 0.497415 0.4741065 0 0.06734992 FALSE 1.62426e-05 ENSE00001760884_012 ENSE00001760884 012 12 53042759 53042928 - 32 96 42 A G 53042819 1785 110 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAGTTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649034 52649035 52649035 exon -29 0.7083333 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAACTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 23 60 0.85 0.85 0.85 645 992 0.9631984 0.963374 0.9632862 0.8529705 0.8493319 0.8423389 0.7940301 -0.002970471 0.000668066 0.1208595 0.169344 0.8511512 0.8181845 -0.001151203 0.1451017 0.1462529 FALSE FALSE 0.002 1.492 . missense_variant MODERATE KRT2 HGNC 6439 ENST00000309680 4/9 rs376746028 1 deleterious(0.04) benign(0.137) NA G:0.0002 G:0 AAT A,G 3.295e-05 12:52649035 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 missense_variant 1.46494 0.31479 0.2449 0.497415 0.9665252 0 0.06734992 FALSE 2.43639e-05 ENSE00001760884_014 ENSE00001760884 014 12 53042759 53042928 - 32 96 42 G A 53042836 1787 93 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGATCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649051 52649052 52649052 exon -46 0.53125 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGATCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 1510 247 0.8011325 0.8 0.8005663 0.8529705 0.8493319 0.8423389 0.7940301 NA NA -0.04120631 0.005969929 0.8511512 0.8181845 NA -0.01761819 NA FALSE NA 0 -6.409 . synonymous_variant LOW KRT2 HGNC 6439 ENST00000309680 4/9 1 NA GGT G,A 2.471e-05 12:52649052 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 synonymous_variant -0.169023 0.1509 0.0148 0.497415 0.1974368 0 0.06734992 FALSE 1.62425e-05 ENSE00001760884_015 ENSE00001760884 015 12 53042759 53042928 - 32 96 42 C T 53042841 1788 88 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCATCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649056 52649057 52649057 exon 46 0.4791667 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGATGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 20 33 0.85 0.85 0.85 1680 47 0.963237 0.9914693 0.9773531 0.8529705 0.8493319 0.8423389 0.7940301 -0.002970471 0.000668066 0.1208982 0.1974392 0.8511512 0.8181845 -0.001151203 0.1591687 0.1603199 FALSE FALSE 0 -0.519 . missense_variant MODERATE KRT2 HGNC 6439 ENST00000309680 4/9 rs369847857 1 deleterious(0.02) benign(0.406) NA T:0.0002 T:0 ACC C,T 1.647e-05 12:52649057 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 missense_variant 1.696822 0.23444 0.07979 0.497415 0.9932017 0 0.06734992 FALSE 4.06055e-06 ENSE00001760884_016 ENSE00001760884 016 12 53042759 53042928 - 32 96 42 A C 53042847 1789 82 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGCCTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649062 52649063 52649063 exon 40 0.4166667 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGGCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 96 18 0 0 0 NA NA NA NA NA 0.8529705 0.8493319 0.8423389 0.7940301 -0.8529705 -0.8493319 NA NA 0.8511512 0.8181845 -0.8511512 NA NA NA TRUE 0 -0.032 . missense_variant MODERATE KRT2 HGNC 6439 ENST00000309680 4/9 1 tolerated(1) benign(0.028) NA GAC A,C 8.236e-06 12:52649063 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 missense_variant -1.891964 0.91654 0.02203 0.497415 0.2192321 0 0.06734992 FALSE 8.12117e-06 ENSE00001760884_017 ENSE00001760884 017 12 53042759 53042928 - 32 96 42 C T 53042854 1790 75 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAATTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649069 52649070 52649070 exon 33 0.34375 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAATTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 1490 2331 0.7985688 0.688463 0.7435159 0.8529705 0.8493319 0.8423389 0.7940301 NA NA -0.04377002 -0.105567 0.8511512 0.8181845 NA -0.07466853 NA FALSE NA 0 -2.597 . synonymous_variant LOW KRT2 HGNC 6439 ENST00000309680 4/9 1 NA ACT C,T 8.236e-06 12:52649070 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 synonymous_variant 0.907841 0.9373 0.13351 0.497415 0.354426 0 0.06734992 FALSE 4.06062e-06 ENSE00001760884_018 ENSE00001760884 018 12 53042759 53042928 - 32 96 42 C G 53042874 1791 55 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGGATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649089 52649090 52649090 exon 13 0.1354167 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATCCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 220 323 0.95 0.95 0.95 0.8529705 0.8493319 0.8423389 0.7940301 NA NA 0.1076611 0.1559699 0.8511512 0.8181845 NA 0.1318155 NA FALSE NA 0 0.086 . missense_variant MODERATE KRT2 HGNC 6439 ENST00000309680 4/9 rs367546338 1 deleterious(0) probably_damaging(0.939) NA G:0 G:0.0001 GCA C,G 8.236e-06 12:52649090 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 missense_variant 3.500836 0.77448 0.34288 0.497415 0.9901353 0 0.06734992 FALSE 4.06065e-06 ENSE00001760884_019 ENSE00001760884 019 12 53042759 53042928 - 32 96 42 C T 53042883 1792 46 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCATGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649098 52649099 52649099 exon 4 0.04166667 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACATGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 22 20 0.85 0.85 0.85 272 584 0.941824 0.7994178 0.8706209 0.8529705 0.8493319 0.8423389 0.7940301 -0.002970471 0.000668066 0.09948512 0.005387754 0.8511512 0.8181845 -0.001151203 0.05243644 0.05358764 FALSE FALSE 0.625 1.572 . missense_variant MODERATE KRT2 HGNC 6439 ENST00000309680 4/9 1 deleterious(0.01) probably_damaging(1) NA ACG C,T 2.471e-05 12:52649099 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 missense_variant 5.193321 0.98129 0.55218 0.497415 0.9976524 0 0.06734992 FALSE 2.43641e-05 ENSE00001760884_020 ENSE00001760884 020 12 53042759 53042928 - 32 96 42 G A 53042884 1793 45 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACATCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649099 52649100 52649100 exon 3 0.03125 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGATGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 875 367 0.7978634 0.8150077 0.8064355 0.8529705 0.8493319 0.8423389 0.7940301 NA NA -0.0444755 0.02097761 0.8511512 0.8181845 NA -0.01174894 NA FALSE NA 0 -2.472 . splice_region_variant&synonymous_variant LOW KRT2 HGNC 6439 ENST00000309680 4/9 1 NA CGT G,A 1.647e-05 12:52649100 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 splice_region_variant 0.030724 0.95542 0.04556 0.497415 0.4518797 0 0.06734992 FALSE 2.03036e-05 ENSE00001760884_021 ENSE00001760884 021 12 53042759 53042928 - 32 96 42 G A 53042889 1794 40 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTACAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649104 52649105 52649105 upstr_intron -3 -0.04761905 GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGTAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 232 67 0.005668137 0.01954606 0.0126071 273 198 0.005043151 0.01633203 0.01068759 0.8529705 0.8493319 0.8423389 0.7940301 -0.8473023 -0.8297859 -0.8372957 -0.777698 0.8511512 0.8181845 -0.8385441 -0.8074969 0.03104723 TRUE TRUE 0.085 0.36 . splice_region_variant&intron_variant LOW KRT2 HGNC 6439 ENST00000309680 3/8 1 NA TGC G,A 8.236e-06 12:52649105 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 splice_region_variant 0.459156 0.96761 0.4367 0.053691 0.5194962 0.194922 0.06734992 FALSE 4.06072e-06 ENSE00001760884_023 ENSE00001760884 023 12 53042759 53042928 - 32 96 42 C T 53042905 1796 24 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGTCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649120 52649121 52649121 upstr_intron -19 -0.4285714 GTACAGGGAACCATACACCAGAGACCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 444 30 0.9528438 0.86511 0.9089769 0.8529705 0.8493319 0.8423389 0.7940301 NA NA 0.1105049 0.07107996 0.8511512 0.8181845 NA 0.09079245 NA FALSE NA 0 -0.961 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:52649121 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 intron_variant -0.294446 0.12879 0.01329 0.053691 0.3035956 0.0598178 0.06734992 FALSE 0.000268044 ENSE00001760884_024 ENSE00001760884 024 12 53042759 53042928 - 32 96 42 C A 53042905 1797 24 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGACTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 52649120 52649121 52649121 upstr_intron -19 -0.4285714 GTACAGGGAACCATACACCAGAGTCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 77 74 0.85 0.85 0.85 389 72 0.8728592 0.8593072 0.8660832 0.8529705 0.8493319 0.8423389 0.7940301 -0.002970471 0.000668066 0.03052033 0.0652771 0.8511512 0.8181845 -0.001151203 0.04789871 0.04904991 FALSE FALSE 0 -0.961 NA NA NA KRT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT2 NA NA NA ENSG00000172867 ENSE00003499848 intron_variant -0.260902 0.14604 0.02521 0.053691 0.3662369 0.0598178 0.06734992 FALSE 0 ENSE00001760884_025 ENSE00001760884 025 12 53042759 53042928 - 32 96 42 G T 53042911 1798 18 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGTTGTATGGTTCCCTGTAC 52648974 52649144 52649126 52649127 52649127 upstr_intron -25 -0.5714286 GTACAGGGAACCATACAACAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 203 277 0.9913802 0.9815343 0.9864573 0.8529705 0.8493319 0.8423389 0.7940301 NA NA 0.1490414 0.1875042 0.8511512 0.8181845 NA 0.1682728 NA FALSE NA 0 -0.04 . intron_variant MODIFIER KRT2 HGNC 6439 ENST00000309680 3/8 rs201470109 1 T:0.0014 T:0.0045 T:0.0014 NA T:0 T:0 T:0 T:0.0016 T:0 GGT G,T 0.0001812 12:52649127 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 intron_variant -0.085371 0.15716 0.07625 0.053691 0.734995 0.0598178 0.06734992 FALSE 0.00012998 ENSE00001760884_026 ENSE00001760884 026 12 53042759 53042928 - 32 96 42 G A 53042913 1799 16 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTATATGGTTCCCTGTAC 52648974 52649144 52649128 52649129 52649129 upstr_intron -27 -0.6190476 GTACAGGGAACCATATACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant NA NA NA NA NA 42 964 0.9404943 0.9623186 0.9514064 0.8529705 0.8493319 0.8423389 0.7940301 NA NA 0.0981554 0.1682885 0.8511512 0.8181845 NA 0.133222 NA FALSE NA 0 0.104 . intron_variant MODIFIER KRT2 HGNC 6439 ENST00000309680 3/8 rs377506138 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0002 TGT G,A 5.765e-05 12:52649129 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 intron_variant 0.088268 0.15488 0.06435 0.053691 0.6094181 0.0598178 0.06734992 FALSE 6.49984e-05 ENSE00001760884_027 ENSE00001760884 027 12 53042759 53042928 - 32 96 42 G T 53042917 1800 12 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATTGTTCCCTGTAC 52648974 52649144 52649132 52649133 52649133 upstr_intron -31 -0.7142857 GTACAGGGAACAATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 22 99 0.85 0.85 0.85 443 110 0.9396385 0.8817642 0.9107014 0.8529705 0.8493319 0.8423389 0.7940301 -0.002970471 0.000668066 0.09729968 0.08773412 0.8511512 0.8181845 -0.001151203 0.0925169 0.0936681 FALSE FALSE 0 -2.663 . intron_variant MODIFIER KRT2 HGNC 6439 ENST00000309680 3/8 1 NA TGG G,T 8.236e-06 12:52649133 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 intron_variant -0.351651 0.09795 0.01327 0.053691 0.403132 0.0598178 0.06734992 FALSE 1.62549e-05 ENSE00001760884_028 ENSE00001760884 028 12 53042759 53042928 - 32 96 42 G T 53042918 1801 11 AGTAAGGGACTGTCCCGGAGCAGCCTCCTTACCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCCTGCAAGAAAGGTTGAGGCCTCTGGTGTATGTTTCCCTGTAC 52648974 52649144 52649133 52649134 52649134 upstr_intron -32 -0.7380952 GTACAGGGAAACATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT mutant 13 58 0.85 0.85 0.85 140 928 0.9333204 0.9199978 0.9266591 0.8529705 0.8493319 0.8423389 0.7940301 -0.002970471 0.000668066 0.09098152 0.1259678 0.8511512 0.8181845 -0.001151203 0.1084746 0.1096258 FALSE FALSE 0 -1.111 rs2232553 intron_variant MODIFIER KRT2 HGNC 6439 ENST00000309680 3/8 rs2232553 1 T:0.0120 T:0.0045 T:0.0101 NA T:0 T:0.0249 T:0.0225 T:0.0086 T:0.0406 GGT G,T 0.029 12:52649134 KRT2 HGNC Symbol protein_coding 7606 ENSG00000172867 ENSE00003499848 intron_variant -0.375829 0.12223 0.02353 0.053691 0.4975556 0.0598178 0.06734992 FALSE 0.0299521 ENSE00001760884_BRK ENSE00001760884 BRK 12 53042759 53042928 - 32 96 42 A,G; T,T NA NA NA AGTAAGGGACTGTCCCGGAGCAGCCTCCTTGGCGCATCATAGAGAACTTTCAGAAACTCAATTTCCTGGTTCAGCAGGTCCACCTTGGACTGCAACTCCACCTTTATCATGTAGGCATTGTCCACGTCAAGCAAGAAAGGTTGAGGCCTCTGGTGTATGGTTCCCTGTAC 52648974 52649144 NA NA NA NA NA NA GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCTTGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGCCAAGGAGGCTGCTCCGGGACAGTCCCTTACT GTACAGGGAACCATACACCAGAGGCCTCAACCTTTCTTGCAGGACGTGGACAATGCCTACATGATAAAGGTGGAGTTGCAGTCCAAGGTGGACCTGCTGAACCAGGAAATTGAGTTTCTGAAAGTTCTCTATGATGCGGTAAGGAGGCTGCTCCGGGACAGTCCCTTACT control NA NA NA NA NA 162 242 0.02738789 0 0.01369395 0.8529705 0.8493319 0.8423389 0.7940301 NA NA -0.814951 -0.7940301 0.8511512 0.8181845 NA -0.8044905 NA TRUE NA NA NA NA NA NA KRT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT2 NA NA NA ENSG00000172867 ENSE00003499848 NA NA NA NA NA NA NA 0.06734992 FALSE NA ENSE00001761497_000 ENSE00001761497 000 16 5143446 5143615 - 39 81 50 NA NA NA NA NA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA 5093444 5093614 NA NA NA NA NA NA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA natural 641 814 0.846572 0.8513241 0.848948 277 801 0.8991429 0.8484028 0.8737728 0.846572 0.8513241 0.8991429 0.8484028 0 0 0 0 0.848948 0.8737728 0 0 0 FALSE FALSE NA NA NA NA NA FAM86A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EEF2KMT NA NA NA ENSG00000118894 ENSE00003680657 NA NA NA NA NA NA NA NA NA NA ENSE00001761497_001 ENSE00001761497 001 16 5143446 5143615 - 39 81 50 C G 5143459 597 157 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCACTAGCCGGACAGCA 5093444 5093614 5093457 5093458 5093458 downstr_intron 26 1.684211 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCACTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 75 26 0.880008 0.85 0.865004 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.03343602 -0.001324066 NA NA 0.848948 0.8737728 0.01605598 NA NA NA FALSE 0 -0.662 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA ACT C,G 8.236e-06 16:5093458 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 intron_variant 0.094407 0.14398 0.02749 0.092769 0.5933704 0.0497772 NA NA 4.07113e-06 ENSE00001761497_002 ENSE00001761497 002 16 5143446 5143615 - 39 81 50 T A 5143460 598 156 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCTGTAGCCGGACAGCA 5093444 5093614 5093458 5093459 5093459 downstr_intron 25 1.657895 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCTGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 36 34 0.85 0.85 0.85 57 162 0.8056392 0.8 0.8028196 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 -0.09350369 -0.04840281 0.848948 0.8737728 0.001051985 -0.07095325 0.07200523 FALSE FALSE 0 -3.227 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA CTG T,A 8.236e-06 16:5093459 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 intron_variant 0.27828 0.1008 0.00594 0.092769 0.7164151 0.0497772 NA NA 4.07073e-06 ENSE00001761497_003 ENSE00001761497 003 16 5143446 5143615 - 39 81 50 C T 5143464 599 152 TGCTGTCCGGCTACTGGGTGGACACTGCCCATAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGACGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093462 5093463 5093463 downstr_intron 21 1.552632 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCACCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 53 45 0.85 0.85 0.85 13 61 0.8 0.8479265 0.8239633 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 -0.09914286 -0.0004762754 0.848948 0.8737728 0.001051985 -0.04980957 0.05086155 FALSE FALSE 0 -1.934 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 TMP_ESP_16_5143464_5143464 1 NA -:0.0002 -:0.0002 GCG C,T 8.238e-06 16:5093463 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 intron_variant 0.030329 0.08036 0.01095 0.092769 0.6820961 0.0497772 NA NA 8.14339e-06 ENSE00001761497_004 ENSE00001761497 004 16 5143446 5143615 - 39 81 50 G A 5143465 600 151 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCTGCCCAGTAGCCGGACAGCA 5093444 5093614 5093463 5093464 5093464 downstr_intron 20 1.526316 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCTGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 96 99 0.8326789 0.85 0.8413394 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 -0.01389311 -0.001324066 NA NA 0.848948 0.8737728 -0.00760859 NA NA NA FALSE 0 -0.26 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs369822027 1 NA A:0.0011 A:0.0001 CGG G,A 0.0001071 16:5093464 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 intron_variant -0.211288 0.08577 0.00966 0.092769 0.4710049 0.0497772 NA NA 0.000105862 ENSE00001761497_006 ENSE00001761497 006 16 5143446 5143615 - 39 81 50 A G 5143476 602 140 TGCTGTCCGGCTACTGGGCGGACACTGCCCGTAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGACGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093474 5093475 5093475 downstr_intron 9 1.236842 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTACGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 43 41 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 0 -0.123 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA CAT A,G 8.237e-06 16:5093475 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 intron_variant 0.01279 0.07646 0.00425 0.092769 0.478027 0.121215 NA NA 4.07057e-06 ENSE00001761497_007 ENSE00001761497 007 16 5143446 5143615 - 39 81 50 C T 5143485 603 131 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACTTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGACGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093483 5093484 5093484 exon -1 1 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAAGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 155 563 0 0 0 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 -0.846572 -0.8513241 NA NA 0.848948 0.8737728 -0.848948 NA NA NA TRUE 1 5.832 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA CCT C,T 8.237e-06 16:5093484 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 splice_region_variant 1.252578 0.97553 0.95804 0.706298 0.6309804 0 NA NA 1.22006e-05 ENSE00001761497_008 ENSE00001761497 008 16 5143446 5143615 - 39 81 50 A G 5143492 604 124 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACCTTTTTGGTGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGACGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093490 5093491 5093491 exon -8 0.9135802 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCACCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 17 15 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 1 6.969 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs201403470 1 NA GAT A,G 1.647e-05 16:5093491 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 missense_variant 2.666754 0.98409 0.97767 0.706298 0.9951609 0 NA NA 3.2532e-05 ENSE00001761497_009 ENSE00001761497 009 16 5143446 5143615 - 39 81 50 T G 5143498 605 118 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGCACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA 5093444 5093614 5093496 5093497 5093497 exon -14 0.8395062 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGCACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 84 124 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 1 3.382 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA TTC T,G 8.237e-06 16:5093497 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 missense_variant 2.131032 0.97206 0.93394 0.706298 0.9854114 0 NA NA 4.0664e-06 ENSE00001761497_012 ENSE00001761497 012 16 5143446 5143615 - 39 81 50 C T 5143513 608 103 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACTGGGCATATTTGACGGACGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093511 5093512 5093512 exon -29 0.654321 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCAGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 13 20 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 0.421 1.417 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs199836524 1 NA CCG C,T 1.647e-05 16:5093512 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 missense_variant 1.791292 0.16042 0.18644 0.706298 0.9896698 0 NA NA 8.13279e-06 ENSE00001761497_014 ENSE00001761497 014 16 5143446 5143615 - 39 81 50 C T 5143526 610 90 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGATGGACGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093524 5093525 5093525 exon 40 0.4938272 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCATCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 24 26 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 0 0.994 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs377315909&COSM3361798 1 NA T:0.0002 T:0 ACG C,T 0.0001153 16:5093525 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 missense_variant 1.136918 0.16535 0.09214 0.706298 0.982295 0 NA NA 0.000117925 ENSE00001761497_015 ENSE00001761497 015 16 5143446 5143615 - 39 81 50 A G 5143529 611 87 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGGCGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093527 5093528 5093528 exon 37 0.4567901 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGCCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant NA NA NA NA NA 218 18 0.8 0.8 0.8 0.846572 0.8513241 0.8991429 0.8484028 NA NA -0.09914286 -0.04840281 0.848948 0.8737728 NA -0.07377284 NA FALSE NA 0.968 2.108 rs141165367 intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs141165367 1 NA G:0 G:0.0001 GAC A,G 1.647e-05 16:5093528 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 missense_variant 1.419603 0.21672 0.61142 0.706298 0.9563575 0 NA NA 1.21991e-05 ENSE00001761497_020 ENSE00001761497 020 16 5143446 5143615 - 39 81 50 C T 5143548 616 68 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGACGGCGGGTGCTTCACACATACAGGATGCTTCACAGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093546 5093547 5093547 exon 18 0.2222222 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTATGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 34 124 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 1 0.677 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 1 NA ACA C,T 8.237e-06 16:5093547 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 synonymous_variant 1.153566 0.98434 0.84399 0.706298 0.7420292 0 NA NA 1.21991e-05 ENSE00001761497_023 ENSE00001761497 023 16 5143446 5143615 - 39 81 50 A G 5143563 619 53 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGACGGCGGGTGCTTCACACACACAGGATGCTTCACGGTCTACGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093561 5093562 5093562 exon 3 0.03703704 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACCGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant NA NA NA NA NA 105 95 0.95 0.9635793 0.9567896 0.846572 0.8513241 0.8991429 0.8484028 NA NA 0.05085714 0.1151764 0.848948 0.8737728 NA 0.08301679 NA FALSE NA 0 -2.369 rs149232182 intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs149232182 1 G:0.0124 G:0.0446 G:0.0043 NA G:0 G:0 G:0 G:0.0303 G:0 CAG A,G 0.002726 16:5093562 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 splice_region_variant -0.241345 0.8831 0.02021 0.706298 0.4161541 0 NA NA 0.00219648 ENSE00001761497_026 ENSE00001761497 026 16 5143446 5143615 - 39 81 50 C T 5143569 622 47 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGACGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTATGGCAAAGGACAGAACGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093567 5093568 5093568 upstr_intron -4 -0.06 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCATAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant NA NA NA NA NA 438 719 0.001805804 0.009504171 0.005654987 0.846572 0.8513241 0.8991429 0.8484028 NA NA -0.8973371 -0.8388986 0.848948 0.8737728 NA -0.8681178 NA TRUE NA 0 -0.471 . intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs536693743 1 NA ACG C,T 1.647e-05 16:5093568 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 splice_region_variant 0.177802 0.07702 0.00488 0.078448 0.5686613 0.177261 NA NA 8.13749e-06 ENSE00001761497_027 ENSE00001761497 027 16 5143446 5143615 - 39 81 50 C G 5143572 623 44 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTCCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA 5093444 5093614 5093570 5093571 5093571 upstr_intron -7 -0.12 GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTCCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 184 184 0.7912454 0.7331214 0.7621834 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 -0.05532654 -0.1182027 NA NA 0.848948 0.8737728 -0.08676461 NA NA NA FALSE 0 -0.883 rs35574184 intron_variant MODIFIER FAM86A HGNC 32221 ENST00000587133 2/5 rs35574184 1 G:0.0182 G:0.003 G:0.0389 NA G:0 G:0.0497 G:0.0102 G:0.0125 G:0.0546 GCA C,G 0.033 16:5093571 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 splice_region_variant -0.27688 0.08358 0.01788 0.078448 0.4473976 0.238691 NA NA 0.0342106 ENSE00001761497_030 ENSE00001761497 030 16 5143446 5143615 - 39 81 50 C T 5143584 626 32 TGCTGTCCGGCTACTGGGCGGACACTGCCCATAACTGACCTTTTTGATGAGTTCTGAGAGAAAGCACCGGGCATATTTGACGGACGGCGGGTGCTTCACACACACAGGATGCTTCACAGTCTACGGCAAAGGACAGAATGTTGGTTGCTCGAGAGCCCGTCTTAAGTCTC 5093444 5093614 5093582 5093583 5093583 upstr_intron -19 -0.36 GAGACTTAAGACGGGCTCTCGAGCAACCAACATTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 20 14 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 0 -1.43 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:5093583 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 intron_variant -0.320237 0.06027 0.00351 0.078448 0.7565406 0.125989 NA NA 5.70153e-05 ENSE00001761497_032 ENSE00001761497 032 16 5143446 5143615 - 39 81 50 G A 5143585 628 31 GAGACTTAAGACGGGCTCTCGAGCAACCAATGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA 5093444 5093614 5093583 5093584 5093584 upstr_intron -20 -0.38 GAGACTTAAGACGGGCTCTCGAGCAACCAATGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 76 85 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 0 0.372 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:5093584 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 intron_variant -0.127991 0.10106 0.00808 0.078448 0.6954533 0.125989 NA NA 2.44417e-05 ENSE00001761497_038 ENSE00001761497 038 16 5143446 5143615 - 39 81 50 C G 5143603 634 13 GAGACTTAAGACCGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA 5093444 5093614 5093601 5093602 5093602 upstr_intron -38 -0.74 GAGACTTAAGACCGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA mutant 11 40 0.85 0.85 0.85 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 0.003428035 -0.001324066 NA NA 0.848948 0.8737728 0.001051985 NA NA NA FALSE 0 -2.522 NA NA NA FAM86A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:5093602 EEF2KMT HGNC Symbol protein_coding 13504 ENSG00000118894 ENSE00003680657 intron_variant -0.225961 0.09152 0.00966 0.078448 0.3656076 0.0745832 NA NA 1.66176e-05 ENSE00001761497_BRK ENSE00001761497 BRK 16 5143446 5143615 - 39 81 50 A,G; T,T NA NA NA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTTTACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGCCCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA 5093444 5093614 NA NA NA NA NA NA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTTTACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGCCCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA GAGACTTAAGACGGGCTCTCGAGCAACCAACGTTCTGTCCTTTGCCGTAGACTGTGAAGCATCCTGTGTGTGTGAAGCACCCGCCGTCCGTCAAATATGCCCGGTGCTTTCTCTCAGAACTCATCAAAAAGGTCAGTTATGGGCAGTGTCCGCCCAGTAGCCGGACAGCA control 58 11 0 0 0 NA NA NA NA NA 0.846572 0.8513241 0.8991429 0.8484028 -0.846572 -0.8513241 NA NA 0.848948 0.8737728 -0.848948 NA NA NA TRUE NA NA NA NA NA FAM86A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EEF2KMT NA NA NA ENSG00000118894 ENSE00003680657 NA NA NA NA NA NA NA NA NA NA ENSE00001761807_000 ENSE00001761807 000 14 23939191 23939360 + 60 60 50 NA NA NA NA NA ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 NA NA NA NA NA NA ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT natural 29 27 0.9920813 0.9967313 0.9944063 1488 1564 0.9575918 0.9940347 0.9758133 0.9920813 0.9967313 0.9575918 0.9940347 0 0 0 0 0.9944063 0.9758133 0 0 0 FALSE FALSE NA NA NA NA NA NGDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NGDN NA NA NA ENSG00000129460 ENSE00003475472 NA NA NA NA NA NA NA 6.844175e-07 FALSE NA ENSE00001761807_002 ENSE00001761807 002 14 23939191 23939360 + 60 60 50 G A 23939210 181 20 ACTTTCCTATAATCCTGAGAAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470000 23470001 23470001 upstr_intron -41 -0.6666667 ACTTTCCTATAATCCTGAGAAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 609 293 0.9993902 0.9731895 0.9862899 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04179841 -0.0208452 0.9944063 0.9758133 NA 0.01047661 NA FALSE NA 0.009 0.407 . intron_variant MODIFIER NGDN HGNC 20271 ENST00000408901 1/10 rs370811883 1 NA GGA G,A 8.236e-06 14:23470001 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 5_prime_UTR_variant 0.51359 0.23696 0.03127 0.085055 0.7961326 0.100649 6.844175e-07 FALSE 4.08023e-06 ENSE00001761807_004 ENSE00001761807 004 14 23939191 23939360 + 60 60 50 C T 23939232 183 42 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGTCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470022 23470023 23470023 upstr_intron -19 -0.3 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGTCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 320 184 0.9876695 1 0.9938347 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.03007764 0.005965307 0.9944063 0.9758133 NA 0.01802147 NA FALSE NA 0 -0.3 . intron_variant MODIFIER NGDN HGNC 20271 ENST00000408901 1/10 1 NA GCC C,T 8.236e-06 14:23470023 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 5_prime_UTR_variant 0.555983 0.20971 0.01387 0.075627 0.7514457 0.0976047 6.844175e-07 FALSE 8.13623e-06 ENSE00001761807_005 ENSE00001761807 005 14 23939191 23939360 + 60 60 50 C T 23939233 184 43 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCTTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470023 23470024 23470024 upstr_intron -18 -0.2833333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCTTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 2322 497 0.9999645 0.8790073 0.9394859 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04237273 -0.1150274 0.9944063 0.9758133 NA -0.03632732 NA FALSE NA 0.001 0.111 . intron_variant MODIFIER NGDN HGNC 20271 ENST00000408901 1/10 1 NA CCT C,T 2.471e-05 14:23470024 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 5_prime_UTR_variant 0.249533 0.19986 0.01017 0.075627 0.6772624 0.0976828 6.844175e-07 FALSE 1.62696e-05 ENSE00001761807_008 ENSE00001761807 008 14 23939191 23939360 + 60 60 50 C T 23939236 187 46 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCTTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470026 23470027 23470027 upstr_intron -15 -0.2333333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCTTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 35 859 1 0.9998158 0.9999079 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04240818 0.005781151 0.9944063 0.9758133 NA 0.02409467 NA FALSE NA 0.001 0.083 . intron_variant MODIFIER NGDN HGNC 20271 ENST00000408901 1/10 1 NA CCT C,T 1.647e-05 14:23470027 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 5_prime_UTR_variant 0.840905 0.25759 0.0085 0.075627 0.7455699 0.156435 6.844175e-07 FALSE 8.13286e-06 ENSE00001761807_009 ENSE00001761807 009 14 23939191 23939360 + 60 60 50 C G 23939238 188 48 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTGTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470028 23470029 23470029 upstr_intron -13 -0.2 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTGTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 389 99 1 1 1 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04240818 0.005965307 0.9944063 0.9758133 NA 0.02418675 NA FALSE NA 0.007 0.901 . intron_variant MODIFIER NGDN HGNC 20271 ENST00000408901 1/10 1 NA TCT C,G 1.647e-05 14:23470029 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 5_prime_UTR_variant 0.698888 0.36898 0.06697 0.075627 0.6741361 0.772864 6.844175e-07 FALSE 1.21959e-05 ENSE00001761807_010 ENSE00001761807 010 14 23939191 23939360 + 60 60 50 C T 23939240 189 50 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTTCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470030 23470031 23470031 upstr_intron -11 -0.1666667 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTTCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 501 269 0.9834686 0.9924425 0.9879556 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.02587678 -0.001592149 0.9944063 0.9758133 NA 0.01214231 NA FALSE NA 0 -0.742 . intron_variant MODIFIER NGDN HGNC 20271 ENST00000408901 1/10 1 NA TCC C,T 8.237e-06 14:23470031 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 5_prime_UTR_variant 0.703996 0.25938 0.02087 0.075627 0.8601724 0.211965 6.844175e-07 FALSE 4.06468e-06 ENSE00001761807_012 ENSE00001761807 012 14 23939191 23939360 + 60 60 50 T C 23939248 191 58 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGCAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470038 23470039 23470039 upstr_intron -3 -0.03333333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGCAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant 10 11 0.9913639 1 0.9956819 265 976 0.9438865 0.9961506 0.9700186 0.9920813 0.9967313 0.9575918 0.9940347 -0.0007173779 0.003268725 -0.01370527 0.002115952 0.9944063 0.9758133 0.001275674 -0.00579466 0.007070333 FALSE FALSE 0.032 0.14 . splice_region_variant&intron_variant LOW NGDN HGNC 20271 ENST00000408901 1/10 1 NA GTA T,C 8.236e-06 14:23470039 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 splice_region_variant 0.233557 0.33143 0.03062 0.08998 0.6658491 0.395053 6.844175e-07 FALSE 2.84384e-05 ENSE00001761807_013 ENSE00001761807 013 14 23939191 23939360 + 60 60 50 G C 23939251 192 61 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGCGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470041 23470042 23470042 exon 1 0.01666667 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGCGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant 98 184 0.8443865 0.8439709 0.8441787 160 29 0.8492131 0.8453348 0.8472739 0.9920813 0.9967313 0.9575918 0.9940347 -0.1476947 -0.1527603 -0.1083787 -0.1486999 0.9944063 0.9758133 -0.1502275 -0.1285393 0.02168822 FALSE FALSE 1 5.053 . missense_variant&splice_region_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 1 tolerated(0.08) benign(0.05) NA GGG G,C 8.236e-06 14:23470042 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 1.920471 0.96308 0.79289 0.733237 0.9922272 0 6.844175e-07 FALSE 4.06256e-06 ENSE00001761807_014 ENSE00001761807 014 14 23939191 23939360 + 60 60 50 G A 23939252 193 62 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGAGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470042 23470043 23470043 exon 2 0.03333333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGAGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 132 121 1 1 1 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04240818 0.005965307 0.9944063 0.9758133 NA 0.02418675 NA FALSE NA 0.216 0.38 . missense_variant&splice_region_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 rs569200148 1 tolerated(1) benign(0) NA GGG G,A 1.647e-05 14:23470043 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant -1.182151 0.88934 0.02063 0.733237 0.803961 0 6.844175e-07 FALSE 1.21876e-05 ENSE00001761807_015 ENSE00001761807 015 14 23939191 23939360 + 60 60 50 G C 23939266 194 76 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCCACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470056 23470057 23470057 exon 16 0.2666667 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCCACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant 24 18 0.85 0.85 0.85 23 556 0.9847471 0.9785672 0.9816572 0.9920813 0.9967313 0.9575918 0.9940347 -0.1420813 -0.1467313 0.02715531 -0.0154675 0.9944063 0.9758133 -0.1444063 0.005843903 0.1502502 FALSE FALSE 1 5.053 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:23470057 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 6.440436 0.95838 0.8014 0.733237 0.9951796 0 6.844175e-07 FALSE 0.000195011 ENSE00001761807_016 ENSE00001761807 016 14 23939191 23939360 + 60 60 50 G A 23939266 195 76 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCAACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470056 23470057 23470057 exon 16 0.2666667 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCAACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 324 284 0.9948059 0.9412234 0.9680146 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.03721408 -0.05281129 0.9944063 0.9758133 NA -0.007798606 NA FALSE NA 1 5.053 NA NA NA NGDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NGDN NA NA NA ENSG00000129460 ENSE00003475472 missense_variant 6.871538 0.95696 0.77334 0.733237 0.9985723 0 6.844175e-07 FALSE 1.62509e-05 ENSE00001761807_017 ENSE00001761807 017 14 23939191 23939360 + 60 60 50 T C 23939270 196 80 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCCGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470060 23470061 23470061 exon 20 0.3333333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCCGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 84 93 0.9414377 0.9832692 0.9623535 0.9920813 0.9967313 0.9575918 0.9940347 NA NA -0.01615411 -0.01076549 0.9944063 0.9758133 NA -0.0134598 NA FALSE NA 0.998 4.134 . missense_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 1 deleterious(0) possibly_damaging(0.905) NA CTG T,C 1.647e-05 14:23470061 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 6.040587 0.94097 0.7041 0.733237 0.9984104 0 6.844175e-07 FALSE 8.12559e-06 ENSE00001761807_018 ENSE00001761807 018 14 23939191 23939360 + 60 60 50 G C 23939276 197 86 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAACTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470066 23470067 23470067 exon 26 0.4333333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAACTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 288 446 1 0.9975744 0.9987872 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04240818 0.003539726 0.9944063 0.9758133 NA 0.02297396 NA FALSE NA 0 -0.003 . missense_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 1 tolerated(0.4) benign(0.003) NA AGT G,C 1.647e-05 14:23470067 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant -0.111404 0.21812 0.04168 0.733237 0.7286691 0 6.844175e-07 FALSE 1.21873e-05 ENSE00001761807_019 ENSE00001761807 019 14 23939191 23939360 + 60 60 50 C G 23939279 198 89 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGGCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470069 23470070 23470070 exon 29 0.4833333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGGCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 207 464 1 1 1 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04240818 0.005965307 0.9944063 0.9758133 NA 0.02418675 NA FALSE NA 0.828 4.027 . missense_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 1 deleterious(0.02) benign(0.345) NA GCC C,G 8.236e-06 14:23470070 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 4.784967 0.86949 0.65294 0.733237 0.9968629 0 6.844175e-07 FALSE 4.06253e-06 ENSE00001761807_020 ENSE00001761807 020 14 23939191 23939360 + 60 60 50 G T 23939281 199 91 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCTTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470071 23470072 23470072 exon -30 0.5166667 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCTTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 490 319 0.9697771 0.9849878 0.9773825 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.01218532 -0.009046905 0.9944063 0.9758133 NA 0.001569207 NA FALSE NA 0.655 0.718 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:23470072 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 1.889654 0.82735 0.30867 0.733237 0.9673125 0 6.844175e-07 FALSE 0.00191351 ENSE00001761807_021 ENSE00001761807 021 14 23939191 23939360 + 60 60 50 G C 23939281 200 91 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCCTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470071 23470072 23470072 exon -30 0.5166667 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCCTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 478 117 0.9816504 1 0.9908252 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.02405857 0.005965307 0.9944063 0.9758133 NA 0.01501194 NA FALSE NA 0.655 0.718 NA NA NA NGDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NGDN NA NA NA ENSG00000129460 ENSE00003475472 missense_variant 1.793595 0.82466 0.27356 0.733237 0.9696938 0 6.844175e-07 FALSE 2.03133e-05 ENSE00001761807_022 ENSE00001761807 022 14 23939191 23939360 + 60 60 50 T C 23939291 201 101 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCCGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470081 23470082 23470082 exon -20 0.6833333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCCGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 337 24 1 1 1 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04240818 0.005965307 0.9944063 0.9758133 NA 0.02418675 NA FALSE NA 0.997 4.134 . missense_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 1 deleterious(0) probably_damaging(0.997) NA CTG T,C 8.236e-06 14:23470082 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 6.726319 0.92216 0.73644 0.733237 0.9988003 0 6.844175e-07 FALSE 4.06263e-06 ENSE00001761807_023 ENSE00001761807 023 14 23939191 23939360 + 60 60 50 A G 23939297 202 107 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAGTCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470087 23470088 23470088 exon -14 0.7833333 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAGTCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 164 526 1 1 1 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04240818 0.005965307 0.9944063 0.9758133 NA 0.02418675 NA FALSE NA 0.753 0.458 . missense_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 1 tolerated(0.76) benign(0.008) NA AAT A,G 4.118e-05 14:23470088 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 1.133872 0.85634 0.25969 0.733237 0.9626384 0 6.844175e-07 FALSE 2.84409e-05 ENSE00001761807_024 ENSE00001761807 024 14 23939191 23939360 + 60 60 50 C T 23939299 203 109 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATTTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470089 23470090 23470090 exon -12 0.8166667 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATTTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant 10 22 0.85 0.85 0.85 NA NA NA NA NA 0.9920813 0.9967313 0.9575918 0.9940347 -0.1420813 -0.1467313 NA NA 0.9944063 0.9758133 -0.1444063 NA NA NA FALSE 0.996 4.027 . missense_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 rs375481470 1 deleterious(0.01) probably_damaging(0.996) NA T:0 T:0.0001 TCT C,T 4.118e-05 14:23470090 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 7.017012 0.93067 0.71232 0.733237 0.9987835 0 6.844175e-07 FALSE 4.46936e-05 ENSE00001761807_027 ENSE00001761807 027 14 23939191 23939360 + 60 60 50 G A 23939305 206 115 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGAAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470095 23470096 23470096 exon -6 0.9166667 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGAAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant 11 11 0.85 0.85 0.85 257 32 0.930803 0.95 0.9404015 0.9920813 0.9967313 0.9575918 0.9940347 -0.1420813 -0.1467313 -0.02678883 -0.04403469 0.9944063 0.9758133 -0.1444063 -0.03541176 0.1089945 FALSE FALSE 1 5.053 rs138567688 missense_variant MODERATE NGDN HGNC 20271 ENST00000408901 2/11 rs138567688 1 tolerated(0.05) probably_damaging(0.989) A:0.0010 A:0.0008 A:0.0014 NA A:0 A:0.003 A:0 A:0.0005 A:0.0043 GGA G,A 0.001861 14:23470096 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 missense_variant 5.740316 0.93194 0.76122 0.733237 0.9991597 0 6.844175e-07 FALSE 0.00191403 ENSE00001761807_028 ENSE00001761807 028 14 23939191 23939360 + 60 60 50 G C 23939318 207 128 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTACTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT 23469981 23470151 23470108 23470109 23470109 downstr_intron 8 1.163265 ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTACTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT ACTTTCCTATAATCCTGAGGAAAGAATGACTTTTCTTTACGCCTCCTCTCCCTTCTGTAGGGGGTGCTGGAGTCCGACCTGCCAAGTGCCGTGACACTTCTGAAAAATCTCCAGGAGCAAGTGAGTAGTGTCGCCTCTGGAATAAATTAGTCACGGATTGGCTTTGAGTT mutant NA NA NA NA NA 223 920 1 1 1 0.9920813 0.9967313 0.9575918 0.9940347 NA NA 0.04240818 0.005965307 0.9944063 0.9758133 NA 0.02418675 NA FALSE NA 0 -1.557 . splice_region_variant&intron_variant LOW NGDN HGNC 20271 ENST00000408901 2/10 rs375204457 1 NA C:0.0002 C:0 AGT G,C 4.942e-05 14:23470109 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003475472 splice_region_variant 1.185766 0.11264 0.03109 0.07321 0.795175 0.260829 6.844175e-07 FALSE 4.87841e-05 ENSE00001761817_000 ENSE00001761817 000 1 103430990 103431159 - 53 54 63 NA NA NA NA NA TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 NA NA NA NA NA NA TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT natural 1411 2006 0.8555145 0.8568737 0.8561941 14921 14765 0.7231979 0.755176 0.7391869 0.8555145 0.8568737 0.7231979 0.755176 0 0 0 0 0.8561941 0.7391869 0 0 0 FALSE FALSE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001761817 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001761817_001 ENSE00001761817 001 1 103430990 103431159 - 53 54 63 A G 103431010 2855 150 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGACTTATTTTTTGTTTACATTTT 102965433 102965603 102965453 102965454 102965454 downstr_intron 33 1.634615 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGACTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 37 109 0.85 0.85 0.85 NA NA NA NA NA 0.8555145 0.8568737 0.7231979 0.755176 -0.005514473 -0.006873692 NA NA 0.8561941 0.7391869 -0.006194083 NA NA NA FALSE 0 0.635 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 36/64 1 NA AAT A,G 1.647e-05 1:102965454 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.209474 0.19026 0.06091 0.053691 0.5975556 0.0957804 0.9999806 TRUE 8.12592e-06 ENSE00001761817_002 ENSE00001761817 002 1 103430990 103431159 - 53 54 63 T A 103431011 2856 149 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGTTTTATTTTTTGTTTACATTTT 102965433 102965603 102965454 102965455 102965455 downstr_intron 32 1.615385 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGTTTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 203 331 0.8445808 0.7615749 0.8030778 2960 1199 0.8105812 0.7996717 0.8051265 0.8555145 0.8568737 0.7231979 0.755176 -0.01093368 -0.09529883 0.08738331 0.04449576 0.8561941 0.7391869 -0.05311626 0.06593953 0.1190558 FALSE FALSE 0 -0.798 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 36/64 1 NA ATC T,A 1.647e-05 1:102965455 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.319179 0.16611 0.04045 0.053691 0.6460441 0.0957804 0.9999806 TRUE 8.12579e-06 ENSE00001761817_003 ENSE00001761817 003 1 103430990 103431159 - 53 54 63 C T 103431016 2857 144 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAACAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965459 102965460 102965460 downstr_intron 27 1.519231 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAACAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 224 612 0.8450905 0.8569467 0.8510186 1629 2001 0.8144463 0.8138692 0.8141578 0.8555145 0.8568737 0.7231979 0.755176 -0.01042402 7.304493e-05 0.09124845 0.0586932 0.8561941 0.7391869 -0.005175486 0.07497082 0.08014631 FALSE FALSE 0 -0.331 rs147069719 intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 36/64 rs147069719 1 T:0.0036 T:0.0121 T:0.0029 NA T:0 T:0 T:0 T:0.0116 T:0.0001 GCT C,T 0.001252 1:102965460 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.17138 0.09944 0.00207 0.053691 0.4410007 0.0957804 0.9999806 TRUE 0.00104005 ENSE00001761817_004 ENSE00001761817 004 1 103430990 103431159 - 53 54 63 G A 103431019 2858 141 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCTAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965462 102965463 102965463 downstr_intron 24 1.461538 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCTAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 181 237 0.6001878 0.7991506 0.6996692 942 741 0.8822859 0.8176282 0.8499571 0.8555145 0.8568737 0.7231979 0.755176 -0.2553267 -0.05772309 0.1590881 0.0624522 0.8561941 0.7391869 -0.1565249 0.1107701 0.267295 FALSE FALSE 0 0.178 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 36/64 1 NA TGG G,A 8.236e-06 1:102965463 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant -0.173794 0.13624 0.00249 0.053691 0.5297514 0.0957804 0.9999806 TRUE 4.06256e-06 ENSE00001761817_005 ENSE00001761817 005 1 103430990 103431159 - 53 54 63 G C 103431029 2859 131 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGGTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965472 102965473 102965473 downstr_intron 14 1.269231 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGGTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 145 240 0.867082 0.85 0.858541 1552 1047 0.8023482 0.7961869 0.7992676 0.8555145 0.8568737 0.7231979 0.755176 0.01156749 -0.006873692 0.07915032 0.04101092 0.8561941 0.7391869 0.002346897 0.06008062 0.05773372 FALSE FALSE 0.004 -0.13 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 36/64 rs527387345 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AGC G,C 8.236e-06 1:102965473 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.078402 0.24105 0.16596 0.053691 0.5327341 0.0957804 0.9999806 TRUE 4.06147e-06 ENSE00001761817_006 ENSE00001761817 006 1 103430990 103431159 - 53 54 63 T C 103431040 2860 120 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTGTGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965483 102965484 102965484 downstr_intron 3 1.057692 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTGTGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 77 95 0.2741044 0.2185367 0.2463205 2028 1393 0.0006854592 0.0153477 0.00801658 0.8555145 0.8568737 0.7231979 0.755176 -0.5814101 -0.638337 -0.7225124 -0.7398283 0.8561941 0.7391869 -0.6098736 -0.7311704 0.1212968 TRUE TRUE 1 4.532 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 36/64 rs200515572 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATA T,C 4.942e-05 1:102965484 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 splice_region_variant 1.752288 0.98647 0.84228 0.053691 0.9536044 0.839933 0.9999806 TRUE 4.87353e-05 ENSE00001761817_007 ENSE00001761817 007 1 103430990 103431159 - 53 54 63 T C 103431046 2861 114 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCGCAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965489 102965490 102965490 exon -4 0.9444444 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCGCAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 343 537 0.8561857 0.85 0.8530929 2556 1711 0.806632 0.8071888 0.8069104 0.8555145 0.8568737 0.7231979 0.755176 0.0006712608 -0.006873692 0.08343414 0.05201277 0.8561941 0.7391869 -0.003101216 0.06772346 0.07082467 FALSE FALSE 0.355 -0.477 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 36/65 1 NA GTG T,C 1.647e-05 1:102965490 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 synonymous_variant 0.570116 0.98243 0.44389 0.706298 0.7530243 0 0.9999806 TRUE 1.21839e-05 ENSE00001761817_008 ENSE00001761817 008 1 103430990 103431159 - 53 54 63 T G 103431058 2862 102 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGCGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965501 102965502 102965502 exon -16 0.7222222 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGCGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 150 193 0.8315103 0.85 0.8407551 1775 1296 0.8966202 0.8851345 0.8908774 0.8555145 0.8568737 0.7231979 0.755176 -0.0240042 -0.006873692 0.1734223 0.1299586 0.8561941 0.7391869 -0.01543895 0.1516904 0.1671294 FALSE FALSE 0.92 0.171 rs149526015 synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 36/65 rs149526015 1 G:0.0030 G:0 G:0 NA G:0.0139 G:0 G:0.001 CTC T,G 0.001483 1:102965502 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 synonymous_variant 0.724119 0.94619 0.66158 0.706298 0.7394538 0 0.9999806 TRUE 0.00131234 ENSE00001761817_009 ENSE00001761817 009 1 103430990 103431159 - 53 54 63 G T 103431075 2863 85 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCACTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965518 102965519 102965519 exon 22 0.4074074 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCACTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 10 64 0.983205 0.8980258 0.9406154 3617 1919 0.9765267 0.9511463 0.9638365 0.8555145 0.8568737 0.7231979 0.755176 0.1276905 0.04115207 0.2533288 0.1959703 0.8561941 0.7391869 0.08442128 0.2246495 0.1402283 FALSE FALSE 1 9.738 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 36/65 1 unknown(0) NA GGG G,T 8.236e-06 1:102965519 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 missense_variant 3.104328 0.99476 0.99421 0.706298 0.9916834 0 0.9999806 TRUE NA ENSE00001761817_010 ENSE00001761817 010 1 103430990 103431159 - 53 54 63 G A 103431079 2864 81 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACTGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965522 102965523 102965523 exon 18 0.3333333 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACTGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant NA NA NA NA NA 1845 5216 0.1433183 0.0230373 0.08317779 0.8555145 0.8568737 0.7231979 0.755176 NA NA -0.5798796 -0.7321387 0.8561941 0.7391869 NA -0.6560092 NA TRUE NA 0 -2.21 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 36/65 1 NA CGG G,A 1.647e-05 1:102965523 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 synonymous_variant 1.272826 0.15305 0.01491 0.706298 0.5084452 0 0.9999806 TRUE 1.62484e-05 ENSE00001761817_011 ENSE00001761817 011 1 103430990 103431159 - 53 54 63 G C 103431085 2865 75 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGGAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965528 102965529 102965529 exon 12 0.2222222 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGGAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant NA NA NA NA NA 4758 668 0.7669429 0.8839211 0.825432 0.8555145 0.8568737 0.7231979 0.755176 NA NA 0.04374501 0.1287451 0.8561941 0.7391869 NA 0.08624505 NA FALSE NA 1 1.015 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 36/65 1 NA TGC G,C 8.236e-06 1:102965529 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 synonymous_variant 0.542968 0.97241 0.86763 0.706298 0.7064272 0 0.9999806 TRUE 4.06161e-06 ENSE00001761817_012 ENSE00001761817 012 1 103430990 103431159 - 53 54 63 A T 103431099 2866 61 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTAAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965542 102965543 102965543 upstr_intron -3 -0.03174603 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTAAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 215 104 0 0 0 NA NA NA NA NA 0.8555145 0.8568737 0.7231979 0.755176 -0.8555145 -0.8568737 NA NA 0.8561941 0.7391869 -0.8561941 NA NA NA TRUE 0.942 1.919 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA TAA A,T 8.236e-06 1:102965543 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 splice_region_variant 0.498417 0.93995 0.96079 0.053691 0.6822703 0.24893 0.9999806 TRUE 8.12394e-06 ENSE00001761817_013 ENSE00001761817 013 1 103430990 103431159 - 53 54 63 G A 103431101 2867 59 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCTTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965544 102965545 102965545 upstr_intron -5 -0.06349206 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCTTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 38 146 0.8354396 0.8123415 0.8238906 1190 2067 0.6567632 0.7661466 0.7114549 0.8555145 0.8568737 0.7231979 0.755176 -0.0200749 -0.04453215 -0.06643471 0.01097058 0.8561941 0.7391869 -0.03230353 -0.02773206 0.004571465 FALSE FALSE 0 -0.477 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA AGG G,A 8.236e-06 1:102965545 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 splice_region_variant 0.588444 0.24936 0.0099 0.053691 0.4821384 0.17799 0.9999806 TRUE 4.062e-06 ENSE00001761817_014 ENSE00001761817 014 1 103430990 103431159 - 53 54 63 A G 103431109 2868 51 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACCTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965552 102965553 102965553 upstr_intron -13 -0.1904762 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACCTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 253 98 0.005198681 0.006650631 0.005924656 488 311 0.002640037 0.004743904 0.003691971 0.8555145 0.8568737 0.7231979 0.755176 -0.8503158 -0.8502231 -0.7205579 -0.7504321 0.8561941 0.7391869 -0.8502694 -0.735495 0.1147745 TRUE TRUE 0.955 6.964 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA AAG A,G 1.647e-05 1:102965553 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.292305 0.98685 0.98941 0.053691 0.5745215 0.925565 0.9999806 TRUE 8.1246e-06 ENSE00001761817_015 ENSE00001761817 015 1 103430990 103431159 - 53 54 63 T A 103431117 2869 43 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACATATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965560 102965561 102965561 upstr_intron -21 -0.3174603 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACATATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 195 321 0.85 0.85 0.85 997 2858 0.9472483 0.881231 0.9142397 0.8555145 0.8568737 0.7231979 0.755176 -0.005514473 -0.006873692 0.2240504 0.1260551 0.8561941 0.7391869 -0.006194083 0.1750527 0.1812468 FALSE FALSE 0 -0.843 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA TTT T,A 8.237e-06 1:102965561 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.142239 0.18403 0.05946 0.053691 0.4074018 0.0689414 0.9999806 TRUE 4.06359e-06 ENSE00001761817_016 ENSE00001761817 016 1 103430990 103431159 - 53 54 63 C T 103431126 2870 34 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAACTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965569 102965570 102965570 upstr_intron -30 -0.4603175 TAGAATTTTGATTTATGCTTTGTGTTGTATGTAACTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 47 189 0.85 0.9351043 0.8925522 NA NA NA NA NA 0.8555145 0.8568737 0.7231979 0.755176 -0.005514473 0.07823062 NA NA 0.8561941 0.7391869 0.03635807 NA NA NA FALSE 0 -1.494 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:102965570 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.069715 0.17716 0.03216 0.053691 0.4453485 0.118542 0.9999806 TRUE 0.000512174 ENSE00001761817_017 ENSE00001761817 017 1 103430990 103431159 - 53 54 63 C G 103431126 2871 34 TAGAATTTTGATTTATGCTTTGTGTTGTATGTACCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965569 102965570 102965570 upstr_intron -30 -0.4603175 TAGAATTTTGATTTATGCTTTGTGTTGTATGTACCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 198 314 0.8444434 0.85 0.8472217 846 715 0.8215089 0.8680843 0.8447966 0.8555145 0.8568737 0.7231979 0.755176 -0.01107102 -0.006873692 0.09831099 0.1129084 0.8561941 0.7391869 -0.008972358 0.1056097 0.114582 FALSE FALSE 0 -1.494 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001761817 intron_variant -0.055527 0.19344 0.09442 0.053691 0.3912012 0.118542 0.9999806 TRUE 8.12975e-06 ENSE00001761817_018 ENSE00001761817 018 1 103430990 103431159 - 53 54 63 T C 103431127 2872 33 TAGAATTTTGATTTATGCTTTGTGTTGTATGTGGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965570 102965571 102965571 upstr_intron -31 -0.4761905 TAGAATTTTGATTTATGCTTTGTGTTGTATGTGGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 367 372 0.85 0.8474551 0.8487276 NA NA NA NA NA 0.8555145 0.8568737 0.7231979 0.755176 -0.005514473 -0.009418559 NA NA 0.8561941 0.7391869 -0.007466516 NA NA NA FALSE 0.005 0.434 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA CTA T,C 8.236e-06 1:102965571 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant -0.045132 0.21131 0.18095 0.053691 0.5016584 0.119119 0.9999806 TRUE 4.06494e-06 ENSE00001761817_019 ENSE00001761817 019 1 103430990 103431159 - 53 54 63 A G 103431130 2873 30 TAGAATTTTGATTTATGCTTTGTGTTGTACGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965573 102965574 102965574 upstr_intron -34 -0.5238095 TAGAATTTTGATTTATGCTTTGTGTTGTACGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 189 421 0.85 0.85 0.85 1066 1051 0.7944163 0.7962014 0.7953089 0.8555145 0.8568737 0.7231979 0.755176 -0.005514473 -0.006873692 0.07121844 0.04102539 0.8561941 0.7391869 -0.006194083 0.05612191 0.06231599 FALSE FALSE 0 -0.259 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA CAT A,G 8.236e-06 1:102965574 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.074301 0.18888 0.01095 0.053691 0.307084 0.0689414 0.9999806 TRUE NA ENSE00001761817_020 ENSE00001761817 020 1 103430990 103431159 - 53 54 63 C T 103431133 2874 27 TAGAATTTTGATTTATGCTTTGTGTTATATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965576 102965577 102965577 upstr_intron -37 -0.5714286 TAGAATTTTGATTTATGCTTTGTGTTATATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 287 619 0.85 0.85 0.85 7063 2626 0.7844858 0.8162691 0.8003774 0.8555145 0.8568737 0.7231979 0.755176 -0.005514473 -0.006873692 0.06128786 0.06109307 0.8561941 0.7391869 -0.006194083 0.06119046 0.06738455 FALSE FALSE 0 -1.928 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 1 NA ACA C,T 8.236e-06 1:102965577 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.003604 0.11261 0.01307 0.053691 0.452039 0.0689414 0.9999806 TRUE 1.22422e-05 ENSE00001761817_021 ENSE00001761817 021 1 103430990 103431159 - 53 54 63 A G 103431135 2875 25 TAGAATTTTGATTTATGCTTTGTGCTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965578 102965579 102965579 upstr_intron -39 -0.6031746 TAGAATTTTGATTTATGCTTTGTGCTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant NA NA NA NA NA 2245 1182 0.7144476 0.6499545 0.6822011 0.8555145 0.8568737 0.7231979 0.755176 NA NA -0.008750298 -0.1052214 0.8561941 0.7391869 NA -0.05698587 NA FALSE NA 0 -0.536 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 rs370383407 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAC A,G 0.0001153 1:102965579 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.2537 0.13011 0.01522 0.053691 0.5335264 0.0689414 0.9999806 TRUE 8.1646e-05 ENSE00001761817_022 ENSE00001761817 022 1 103430990 103431159 - 53 54 63 C T 103431138 2876 22 TAGAATTTTGATTTATGCTTTATGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 102965581 102965582 102965582 upstr_intron -42 -0.6507937 TAGAATTTTGATTTATGCTTTATGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT mutant 91 159 0.85 0.85 0.85 944 1875 0.8145811 0.845645 0.830113 0.8555145 0.8568737 0.7231979 0.755176 -0.005514473 -0.006873692 0.09138318 0.09046903 0.8561941 0.7391869 -0.006194083 0.09092611 0.09712019 FALSE FALSE 0 -2.055 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 35/64 rs373898164 1 NA T:0.0007 T:0 ACA C,T 9.884e-05 1:102965582 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001761817 intron_variant 0.17861 0.14064 0.0095 0.053691 0.4912886 0.116246 0.9999806 TRUE 7.36106e-05 ENSE00001761817_BRK ENSE00001761817 BRK 1 103430990 103431159 - 53 54 63 A,G; T,T NA NA NA TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTTTGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGCCATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT 102965433 102965603 NA NA NA NA NA NA TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTTTGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGCCATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT TAGAATTTTGATTTATGCTTTGTGTTGTATGTAGCTTTTACAAATAATACTTTGCCTCCTTAGGGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCCCAAGCAAGATTTATTTTTTGTTTACATTTT control 226 125 0 0 0 3230 65 0.04850531 0.01517584 0.03184057 0.8555145 0.8568737 0.7231979 0.755176 -0.8555145 -0.8568737 -0.6746926 -0.7400001 0.8561941 0.7391869 -0.8561941 -0.7073464 0.1488477 TRUE TRUE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001761817 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001762817_000 ENSE00001762817 000 6 70871729 70871898 + 63 54 53 NA NA NA NA NA TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 NA NA NA NA NA NA TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG natural 27 55 0.9917511 0.9351179 0.9634345 3722 2812 0.860021 0.9946453 0.9273332 0.9917511 0.9351179 0.860021 0.9946453 0 0 0 0 0.9634345 0.9273332 0 0 0 FALSE FALSE NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003741546 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001762817_001 ENSE00001762817 001 6 70871729 70871898 + 63 54 53 C T 70871741 1603 13 TTAACTAAAATGTCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161848 70161849 70161849 upstr_intron -51 -0.7936508 TTAACTAAAATGTCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 514 526 0.9780032 1 0.9890016 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1179822 0.005354658 0.9634345 0.9273332 NA 0.06166841 NA FALSE NA 0 -0.44 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 34/50 1 NA GCC C,T 3.295e-05 6:70161849 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant 0.720805 0.18774 0.00556 0.106106 0.6947995 0.0450783 5.55032e-17 FALSE 2.87822e-05 ENSE00001762817_003 ENSE00001762817 003 6 70871729 70871898 + 63 54 53 A G 70871752 1605 24 TTAACTAAAATGCCTTCTTCCCAGTGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161859 70161860 70161860 upstr_intron -40 -0.6190476 TTAACTAAAATGCCTTCTTCCCAGTGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 541 233 1 0.9945961 0.997298 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 -4.928701e-05 0.9634345 0.9273332 NA 0.06996484 NA FALSE NA 0 -0.132 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 34/50 rs377765248 1 NA G:0.0002 G:0.0015 AAT A,G 0.0003048 6:70161860 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant 0.528581 0.16203 0.0291 0.088506 0.6184241 0.0773685 5.55032e-17 FALSE 0.000387626 ENSE00001762817_004 ENSE00001762817 004 6 70871729 70871898 + 63 54 53 A G 70871757 1606 29 TTAACTAAAATGCCTTCTTCCCAATGATGTAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161864 70161865 70161865 upstr_intron -35 -0.5396825 TTAACTAAAATGCCTTCTTCCCAATGATGTAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 561 376 0.9935789 1 0.9967894 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1335578 0.005354658 0.9634345 0.9273332 NA 0.06945625 NA FALSE NA 0 -0.427 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 34/50 1 NA TAT A,G 1.648e-05 6:70161865 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant 0.540113 0.17738 0.01752 0.088506 0.721592 0.0786459 5.55032e-17 FALSE 1.30433e-05 ENSE00001762817_006 ENSE00001762817 006 6 70871729 70871898 + 63 54 53 T C 70871773 1608 45 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGACGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161880 70161881 70161881 upstr_intron -19 -0.2857143 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGACGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 16395 236 0.9905448 0.9993293 0.994937 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1305237 0.004683929 0.9634345 0.9273332 NA 0.06760384 NA FALSE NA 0 -0.028 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 34/50 rs370326507 1 NA C:0 C:0.0001 ATG T,C 3.295e-05 6:70161881 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant -0.14338 0.24273 0.07331 0.106106 0.6953488 0.0803455 5.55032e-17 FALSE 2.56645e-05 ENSE00001762817_007 ENSE00001762817 007 6 70871729 70871898 + 63 54 53 G A 70871776 1609 48 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGAAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161883 70161884 70161884 upstr_intron -16 -0.2380952 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGAAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 417 557 0.8056824 0.9542284 0.8799554 0.9917511 0.9351179 0.860021 0.9946453 NA NA -0.05433859 -0.04041697 0.9634345 0.9273332 NA -0.04737778 NA FALSE NA 0 -0.967 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 34/50 rs373787270 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0014 A:0 GGA G,A 8.238e-05 6:70161884 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant 0.039307 0.22848 0.02717 0.106106 0.4995179 0.0857682 5.55032e-17 FALSE 5.88092e-05 ENSE00001762817_008 ENSE00001762817 008 6 70871729 70871898 + 63 54 53 T C 70871780 1610 52 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACCATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161887 70161888 70161888 upstr_intron -12 -0.1746032 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACCATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 163 177 1 1 1 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 0.005354658 0.9634345 0.9273332 NA 0.07266681 NA FALSE NA 0.001 1.402 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 34/50 1 NA CTA T,C 8.237e-06 6:70161888 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant 0.143002 0.2774 0.03578 0.106106 0.7008271 0.087704 5.55032e-17 FALSE 4.19343e-06 ENSE00001762817_009 ENSE00001762817 009 6 70871729 70871898 + 63 54 53 A G 70871781 1611 53 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTGTCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161888 70161889 70161889 upstr_intron -11 -0.1587302 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTGTCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 283 871 1 0.9997746 0.9998873 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 0.005129274 0.9634345 0.9273332 NA 0.07255412 NA FALSE NA 0 -1.29 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 34/50 1 NA TAT A,G 1.647e-05 6:70161889 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant 0.740387 0.21827 0.01335 0.106106 0.7181336 0.0908091 5.55032e-17 FALSE 1.25508e-05 ENSE00001762817_010 ENSE00001762817 010 6 70871729 70871898 + 63 54 53 C G 70871788 1612 60 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTGCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161895 70161896 70161896 upstr_intron -4 -0.04761905 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTGCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 147 1618 0.9948492 0.9999765 0.9974129 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1348282 0.005331134 0.9634345 0.9273332 NA 0.07007967 NA FALSE NA 0.962 -0.002 . splice_region_variant&intron_variant LOW COL19A1 HGNC 2196 ENST00000322773 34/50 1 NA TCC C,G 8.237e-06 6:70161896 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 splice_region_variant 0.997443 0.76466 0.6317 0.106106 0.6845757 0.172021 5.55032e-17 FALSE 4.14979e-06 ENSE00001762817_011 ENSE00001762817 011 6 70871729 70871898 + 63 54 53 G T 70871793 1613 65 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGTTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161900 70161901 70161901 exon 2 0.03703704 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGTTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 280 106 1 1 1 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 0.005354658 0.9634345 0.9273332 NA 0.07266681 NA FALSE NA 1 6.356 rs184222948 missense_variant&splice_region_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 35/51 rs184222948 1 deleterious(0) probably_damaging(1) T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 GGT G,T 5.766e-05 6:70161901 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 missense_variant 5.01434 0.99217 0.9804 0.475973 0.9957829 0 5.55032e-17 FALSE 6.20245e-05 ENSE00001762817_012 ENSE00001762817 012 6 70871729 70871898 + 63 54 53 T A 70871794 1614 66 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGACTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161901 70161902 70161902 exon 3 0.05555556 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGACTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 1058 289 0.9995323 0.974545 0.9870386 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1395113 -0.02010037 0.9634345 0.9273332 NA 0.05970545 NA FALSE NA 1 0.487 . splice_region_variant&synonymous_variant LOW COL19A1 HGNC 2196 ENST00000322773 35/51 1 NA GTC T,A 8.237e-06 6:70161902 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 splice_region_variant 1.530707 0.97453 0.8144 0.475973 0.8766816 0 5.55032e-17 FALSE 8.26398e-06 ENSE00001762817_013 ENSE00001762817 013 6 70871729 70871898 + 63 54 53 A G 70871800 1615 72 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAGGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161907 70161908 70161908 exon 9 0.1666667 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAGGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 70 23 0.9994106 0.998328 0.9988693 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1393896 0.003682656 0.9634345 0.9273332 NA 0.07153611 NA FALSE NA 1 4.393 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70161908 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 synonymous_variant 0.279733 0.99006 0.96218 0.475973 0.6930376 0 5.55032e-17 FALSE 1.23837e-05 ENSE00001762817_014 ENSE00001762817 014 6 70871729 70871898 + 63 54 53 A C 70871800 1616 72 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCACGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161907 70161908 70161908 exon 9 0.1666667 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCACGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 372 1251 1 0.9961019 0.998051 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 0.001456586 0.9634345 0.9273332 NA 0.07071778 NA FALSE NA 1 4.393 NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003741546 missense_variant 4.308633 0.99019 0.96889 0.475973 0.996479 0 5.55032e-17 FALSE 4.1279e-06 ENSE00001762817_015 ENSE00001762817 015 6 70871729 70871898 + 63 54 53 G A 70871810 1617 82 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAAGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161917 70161918 70161918 exon 19 0.3518519 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAAGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 236 220 0.9998255 0.9744554 0.9871404 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1398045 -0.02018999 0.9634345 0.9273332 NA 0.05980723 NA FALSE NA 1 6.356 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 35/51 1 deleterious(0.02) probably_damaging(1) NA AGG G,A 8.237e-06 6:70161918 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 missense_variant 5.445407 0.99189 0.9769 0.487112 0.9960776 0 5.55032e-17 FALSE 4.12572e-06 ENSE00001762817_016 ENSE00001762817 016 6 70871729 70871898 + 63 54 53 G A 70871820 1618 92 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGATGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161927 70161928 70161928 exon -26 0.537037 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGATGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 1487 295 0.9993496 1 0.9996748 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1393286 0.005354658 0.9634345 0.9273332 NA 0.07234164 NA FALSE NA 1 6.356 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 35/51 rs371625785&COSM1546902 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0001 GGT G,A 1.647e-05 6:70161928 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 missense_variant 4.665121 0.99178 0.97683 0.487112 0.9962584 0 5.55032e-17 FALSE 1.23782e-05 ENSE00001762817_017 ENSE00001762817 017 6 70871729 70871898 + 63 54 53 C T 70871830 1619 102 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGTCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161937 70161938 70161938 exon -16 0.7222222 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGTCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 251 615 1 1 1 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 0.005354658 0.9634345 0.9273332 NA 0.07266681 NA FALSE NA 0.997 0.406 . synonymous_variant LOW COL19A1 HGNC 2196 ENST00000322773 35/51 1 NA GCC C,T 8.237e-06 6:70161938 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 synonymous_variant 1.157164 0.96776 0.62504 0.487112 0.5085401 0 5.55032e-17 FALSE 1.24908e-05 ENSE00001762817_018 ENSE00001762817 018 6 70871729 70871898 + 63 54 53 C T 70871832 1620 104 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCTGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161939 70161940 70161940 exon -14 0.7592593 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCTGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 661 778 0.9974827 0.9993897 0.9984362 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1374616 0.004744326 0.9634345 0.9273332 NA 0.07110299 NA FALSE NA 0.944 1.894 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 35/51 rs374027562&COSM3674745 1 tolerated(0.09) possibly_damaging(0.449) NA T:0 T:0.0001 CCG C,T 4.119e-05 6:70161940 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 missense_variant 3.612506 0.97918 0.87138 0.487112 0.8529244 0 5.55032e-17 FALSE 4.16861e-05 ENSE00001762817_019 ENSE00001762817 019 6 70871729 70871898 + 63 54 53 G C 70871833 1621 105 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCCACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161940 70161941 70161941 exon -13 0.7777778 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCCACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 661 68 0.8836295 0.9519144 0.917772 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.02360847 -0.04273091 0.9634345 0.9273332 NA -0.00956122 NA FALSE NA 0 -4.137 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70161941 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 synonymous_variant -0.348054 0.06618 0.00825 0.487112 0.3209104 0 5.55032e-17 FALSE 8.34564e-06 ENSE00001762817_020 ENSE00001762817 020 6 70871729 70871898 + 63 54 53 G A 70871833 1622 105 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCAACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161940 70161941 70161941 exon -13 0.7777778 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCAACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 1088 357 0.9949176 1 0.9974588 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1348966 0.005354658 0.9634345 0.9273332 NA 0.07012562 NA FALSE NA 0 -4.137 NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003741546 synonymous_variant -0.010571 0.05806 0.00554 0.487112 0.436335 0 5.55032e-17 FALSE 5.84195e-05 ENSE00001762817_021 ENSE00001762817 021 6 70871729 70871898 + 63 54 53 C G 70871841 1623 113 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACGCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161948 70161949 70161949 exon -5 0.9259259 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACGCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 530 987 1 1 1 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 0.005354658 0.9634345 0.9273332 NA 0.07266681 NA FALSE NA 1 5.024 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 35/51 1 deleterious(0.02) probably_damaging(0.993) NA CCC C,G 8.237e-06 6:70161949 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 missense_variant 4.262989 0.99212 0.97416 0.562547 0.9952943 0 5.55032e-17 FALSE 8.41404e-06 ENSE00001762817_022 ENSE00001762817 022 6 70871729 70871898 + 63 54 53 C T 70871863 1624 135 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAATGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161970 70161971 70161971 downstr_intron 18 1.346154 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAATGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 386 410 0.9987135 1 0.9993568 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.1386925 0.005354658 0.9634345 0.9273332 NA 0.07202359 NA FALSE NA 0 -2.18 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 35/50 rs201123002 1 NA T:0 T:0.0001 ACG C,T 0.0001565 6:70161971 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant -0.502253 0.21239 0.02485 0.062308 0.5215622 0.0447609 5.55032e-17 FALSE 0.000154731 ENSE00001762817_023 ENSE00001762817 023 6 70871729 70871898 + 63 54 53 G A 70871864 1625 136 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACAATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161971 70161972 70161972 downstr_intron 19 1.365385 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACAATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 1249 1227 1 1 1 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 0.005354658 0.9634345 0.9273332 NA 0.07266681 NA FALSE NA 0 -1.94 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 35/50 rs199601304 1 NA A:0.0002 A:0.0003 CGA G,A 0.0002471 6:70161972 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant -0.19744 0.21165 0.02398 0.062308 0.4403681 0.0776046 5.55032e-17 FALSE 0.000319189 ENSE00001762817_024 ENSE00001762817 024 6 70871729 70871898 + 63 54 53 C A 70871869 1626 141 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGAACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161976 70161977 70161977 downstr_intron 24 1.461538 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGAACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 356 1165 1 0.994398 0.997199 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 -0.0002473232 0.9634345 0.9273332 NA 0.06986582 NA FALSE NA 0 -0.076 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 35/50 1 NA GCA C,A 1.648e-05 6:70161977 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant 0.07652 0.17529 0.01836 0.062308 0.65787 0.0447609 5.55032e-17 FALSE NA ENSE00001762817_025 ENSE00001762817 025 6 70871729 70871898 + 63 54 53 T A 70871872 1627 144 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACACACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 70161979 70161980 70161980 downstr_intron 27 1.519231 TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACACACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG mutant NA NA NA NA NA 169 304 1 1 1 0.9917511 0.9351179 0.860021 0.9946453 NA NA 0.139979 0.005354658 0.9634345 0.9273332 NA 0.07266681 NA FALSE NA 0 0.401 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 35/50 1 NA CTC T,A 1.648e-05 6:70161980 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003741546 intron_variant 0.633517 0.34213 0.2351 0.062308 0.7190746 0.0447609 5.55032e-17 FALSE 9.20658e-06 ENSE00001762817_BRK ENSE00001762817 BRK 6 70871729 70871898 + 63 54 53 A,G; T,T NA NA NA TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCTTGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTCCAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG 70161836 70162006 NA NA NA NA NA NA TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCTTGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTCCAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG TTAACTAAAATGCCTTCTTCCCAATGATATAACAGATTTTATGATGGGAACTATCTTTTCCAGGGTCTTCAAGGAATTCCAGGCATTCCAGGTGCTCCAGGCCCGACTGGACCCCCTGTAAGTATTTGTTAAAACGATTGCACTCACAGCTTATATCTGCTGGTTTGATG control 121 187 0 0 0 NA NA NA NA NA 0.9917511 0.9351179 0.860021 0.9946453 -0.9917511 -0.9351179 NA NA 0.9634345 0.9273332 -0.9634345 NA NA NA TRUE NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003741546 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001763947_000 ENSE00001763947 000 11 18382118 18382287 + 44 93 33 NA NA NA NA NA AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 NA NA NA NA NA NA AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC natural 25 20 0.9992985 1 0.9996492 8175 3863 0.9616649 0.9969049 0.9792849 0.9992985 1 0.9616649 0.9969049 0 0 0 0 0.9996492 0.9792849 0 0 0 FALSE FALSE NA NA NA NA NA GTF2H1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GTF2H1 NA NA NA ENSG00000110768 ENSE00001763947 NA NA NA NA NA NA NA 0.9959123 TRUE NA ENSE00001763947_002 ENSE00001763947 002 11 18382118 18382287 + 44 93 33 C G 18382130 684 13 AGCTTGAGATTTGTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 18360582 18360583 18360583 upstr_intron -32 -0.7045455 AGCTTGAGATTTGTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC mutant NA NA NA NA NA 187 31 1 1 1 0.9992985 1 0.9616649 0.9969049 NA NA 0.03833509 0.003095104 0.9996492 0.9792849 NA 0.0207151 NA FALSE NA 0.132 0.143 . intron_variant MODIFIER GTF2H1 HGNC 4655 ENST00000534641 12/13 1 NA TCT C,G 1.648e-05 11:18360583 GTF2H1 HGNC Symbol protein_coding 44749 ENSG00000110768 ENSE00001763947 intron_variant 1.065711 0.17771 0.12141 0.156188 0.7891226 0.0689414 0.9959123 TRUE 1.07462e-05 ENSE00001763947_003 ENSE00001763947 003 11 18382118 18382287 + 44 93 33 G C 18382134 685 17 AGCTTGAGATTTCTCTCTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 18360586 18360587 18360587 upstr_intron -28 -0.6136364 AGCTTGAGATTTCTCTCTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC mutant NA NA NA NA NA 209 141 1 1 1 0.9992985 1 0.9616649 0.9969049 NA NA 0.03833509 0.003095104 0.9996492 0.9792849 NA 0.0207151 NA FALSE NA 0 -1.729 . intron_variant MODIFIER GTF2H1 HGNC 4655 ENST00000534641 12/13 1 NA TGT G,C 8.238e-06 11:18360587 GTF2H1 HGNC Symbol protein_coding 44749 ENSG00000110768 ENSE00001763947 intron_variant 0.918481 0.20039 0.07452 0.156188 0.7102146 0.0689414 0.9959123 TRUE NA ENSE00001763947_007 ENSE00001763947 007 11 18382118 18382287 + 44 93 33 C T 18382150 689 33 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTTATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 18360602 18360603 18360603 upstr_intron -12 -0.25 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTTATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC mutant NA NA NA NA NA 38 135 1 1 1 0.9992985 1 0.9616649 0.9969049 NA NA 0.03833509 0.003095104 0.9996492 0.9792849 NA 0.0207151 NA FALSE NA 0 -0.869 . intron_variant MODIFIER GTF2H1 HGNC 4655 ENST00000534641 12/13 1 NA TCA C,T 8.237e-06 11:18360603 GTF2H1 HGNC Symbol protein_coding 44749 ENSG00000110768 ENSE00001763947 intron_variant 1.309177 0.147 0.02466 0.156188 0.7479809 0.0689857 0.9959123 TRUE 5.17727e-06 ENSE00001763947_008 ENSE00001763947 008 11 18382118 18382287 + 44 93 33 C T 18382153 690 36 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATTTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 18360605 18360606 18360606 upstr_intron -9 -0.1818182 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATTTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC mutant NA NA NA NA NA 299 628 1 0.9735458 0.9867729 0.9992985 1 0.9616649 0.9969049 NA NA 0.03833509 -0.02335912 0.9996492 0.9792849 NA 0.007487983 NA FALSE NA 0.015 -0.22 . intron_variant MODIFIER GTF2H1 HGNC 4655 ENST00000534641 12/13 1 NA TCT C,T 8.237e-06 11:18360606 GTF2H1 HGNC Symbol protein_coding 44749 ENSG00000110768 ENSE00001763947 intron_variant 1.26409 0.8426 0.16349 0.156188 0.73502 0.165181 0.9959123 TRUE 1.03367e-05 ENSE00001763947_011 ENSE00001763947 011 11 18382118 18382287 + 44 93 33 G T 18382198 693 81 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAATTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 18360650 18360651 18360651 exon 37 0.3978495 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAATTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC mutant NA NA NA NA NA 188 31 1 1 1 0.9992985 1 0.9616649 0.9969049 NA NA 0.03833509 0.003095104 0.9996492 0.9792849 NA 0.0207151 NA FALSE NA 1 3.515 . missense_variant MODERATE GTF2H1 HGNC 4655 ENST00000534641 13/14 1 tolerated(0.66) benign(0.001) NA AGT G,T 8.236e-06 11:18360651 GTF2H1 HGNC Symbol protein_coding 44749 ENSG00000110768 ENSE00001763947 missense_variant 2.147035 0.97959 0.96624 0.706548 0.8421263 0 0.9959123 TRUE NA ENSE00001763947_016 ENSE00001763947 016 11 18382118 18382287 + 44 93 33 A G 18382225 698 108 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAGAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 18360677 18360678 18360678 exon -30 0.688172 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAGAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC mutant NA NA NA NA NA 419 46 0.9999017 1 0.9999509 0.9992985 1 0.9616649 0.9969049 NA NA 0.03823683 0.003095104 0.9996492 0.9792849 NA 0.02066597 NA FALSE NA 1 8.939 . missense_variant MODERATE GTF2H1 HGNC 4655 ENST00000534641 13/14 1 deleterious(0.01) possibly_damaging(0.576) NA AAA A,G 8.237e-06 11:18360678 GTF2H1 HGNC Symbol protein_coding 44749 ENSG00000110768 ENSE00001763947 missense_variant 5.895301 0.9903 0.99613 0.706548 0.998312 0 0.9959123 TRUE 1.39747e-05 ENSE00001763947_017 ENSE00001763947 017 11 18382118 18382287 + 44 93 33 C T 18382231 699 114 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTTGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 18360683 18360684 18360684 exon -24 0.7526882 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTTGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC mutant NA NA NA NA NA 42 761 0.999016 0.9772551 0.9881355 0.9992985 1 0.9616649 0.9969049 NA NA 0.0373511 -0.01964982 0.9996492 0.9792849 NA 0.008850642 NA FALSE NA 1 5.719 . missense_variant MODERATE GTF2H1 HGNC 4655 ENST00000534641 13/14 rs369310017&COSM925620 1 tolerated(0.2) benign(0.007) NA T:0.0002 T:0 TCG C,T 2.471e-05 11:18360684 GTF2H1 HGNC Symbol protein_coding 44749 ENSG00000110768 ENSE00001763947 missense_variant 4.990915 0.98631 0.98836 0.706548 0.9991293 0 0.9959123 TRUE 1.88852e-05 ENSE00001763947_023 ENSE00001763947 023 11 18382118 18382287 + 44 93 33 G A 18382247 705 130 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAACACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC 18360570 18360740 18360699 18360700 18360700 exon -8 0.9247312 AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAACACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC AGCTTGAGATTTCTCTGTAATTTATTGTTTCTCATCTTTTTTAGGTAGTGAAAATGAAAAGTAATTTGGAACGATTCCAAGTTACGAAGCTCTGTCCATTCCAAGAAAAGATTCGGAGACAGTATTTAAGCACAAATGTAAGGCAGCAATCTGATTTTTGCCTGATCTTC mutant NA NA NA NA NA 172 14 1 1 1 0.9992985 1 0.9616649 0.9969049 NA NA 0.03833509 0.003095104 0.9996492 0.9792849 NA 0.0207151 NA FALSE NA 1 7.606 . missense_variant MODERATE GTF2H1 HGNC 4655 ENST00000534641 13/14 1 tolerated(0.33) benign(0.003) NA AGC G,A 8.237e-06 11:18360700 GTF2H1 HGNC Symbol protein_coding 44749 ENSG00000110768 ENSE00001763947 missense_variant 2.83803 0.99233 0.99155 0.706548 0.9921847 0 0.9959123 TRUE NA ENSE00001764140_000 ENSE00001764140 000 12 113319524 113319693 + 53 75 42 NA NA NA NA NA CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 NA NA NA NA NA NA CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG natural NA NA NA NA NA 2374 814 0.9921158 0.9197434 0.9559296 NA NA 0.9921158 0.9197434 NA NA 0 0 NA 0.9559296 NA 0 NA FALSE NA NA NA NA NA NA RPH3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPH3A NA NA NA ENSG00000089169 ENSE00003480164 NA NA NA NA NA NA NA 0.7386035 FALSE NA ENSE00001764140_001 ENSE00001764140 001 12 113319524 113319693 + 53 75 42 C T 113319536 3322 13 CTGAGCACTGGGTCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881730 112881731 112881731 upstr_intron -41 -0.754717 CTGAGCACTGGGTCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 19 236 0.9918344 1 0.9959172 NA NA 0.9921158 0.9197434 NA NA -0.0002814086 0.08025665 NA 0.9559296 NA 0.03998762 NA FALSE NA 0.198 1.966 rs148093874 intron_variant MODIFIER RPH3A HGNC 17056 ENST00000548866 12/19 rs148093874 1 T:0.0020 T:0 T:0.0029 NA T:0 T:0.008 T:0 T:0.0002 T:0.0063 GCC C,T 0.005503 12:112881731 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 intron_variant 2.191892 0.21267 0.26476 0.053691 0.891784 0.169722 0.7386035 FALSE 0.00517787 ENSE00001764140_002 ENSE00001764140 002 12 113319524 113319693 + 53 75 42 G A 113319546 3323 23 CTGAGCACTGGGCCCTCCTGAGACCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881740 112881741 112881741 upstr_intron -31 -0.5660377 CTGAGCACTGGGCCCTCCTGAGACCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 288 53 0.9979821 1 0.9989911 NA NA 0.9921158 0.9197434 NA NA 0.005866348 0.08025665 NA 0.9559296 NA 0.0430615 NA FALSE NA 0 -0.35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:112881741 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 intron_variant 2.280735 0.20067 0.04869 0.053691 0.8705895 0.169722 0.7386035 FALSE 0.000294256 ENSE00001764140_003 ENSE00001764140 003 12 113319524 113319693 + 53 75 42 G T 113319546 3324 23 CTGAGCACTGGGCCCTCCTGAGTCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881740 112881741 112881741 upstr_intron -31 -0.5660377 CTGAGCACTGGGCCCTCCTGAGTCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 30 162 1 1 1 NA NA 0.9921158 0.9197434 NA NA 0.007884208 0.08025665 NA 0.9559296 NA 0.04407043 NA FALSE NA 0 -0.35 NA NA NA RPH3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPH3A NA NA NA ENSG00000089169 ENSE00003480164 intron_variant 1.971413 0.1979 0.06143 0.053691 0.8793428 0.169722 0.7386035 FALSE 4.26457e-06 ENSE00001764140_005 ENSE00001764140 005 12 113319524 113319693 + 53 75 42 C G 113319555 3326 32 CTGAGCACTGGGCCCTCCTGAGGCCCTCACAGCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881749 112881750 112881750 upstr_intron -22 -0.3962264 CTGAGCACTGGGCCCTCCTGAGGCCCTCACAGCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 478 126 0.9951557 0.9949983 0.995077 NA NA 0.9921158 0.9197434 NA NA 0.003039957 0.07525494 NA 0.9559296 NA 0.03914745 NA FALSE NA 0.001 0.581 . intron_variant MODIFIER RPH3A HGNC 17056 ENST00000548866 12/19 1 NA ACC C,G 8.237e-06 12:112881750 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 intron_variant 1.835605 0.20649 0.16388 0.053691 0.7729442 0.169722 0.7386035 FALSE 4.1768e-06 ENSE00001764140_006 ENSE00001764140 006 12 113319524 113319693 + 53 75 42 C G 113319570 3327 47 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTGTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881764 112881765 112881765 upstr_intron -7 -0.1132075 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTGTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 332 452 0.9838164 0.9988125 0.9913145 NA NA 0.9921158 0.9197434 NA NA -0.008299358 0.07906912 NA 0.9559296 NA 0.03538488 NA FALSE NA 0.001 -0.129 . splice_region_variant&intron_variant LOW RPH3A HGNC 17056 ENST00000548866 12/19 1 NA TCT C,G 8.236e-06 12:112881765 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 splice_region_variant 0.52771 0.32832 0.18538 0.053691 0.6943227 0.210051 0.7386035 FALSE NA ENSE00001764140_008 ENSE00001764140 008 12 113319524 113319693 + 53 75 42 C T 113319586 3329 63 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGTCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881780 112881781 112881781 exon 10 0.1333333 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGTCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 179 1140 1 1 1 NA NA 0.9921158 0.9197434 NA NA 0.007884208 0.08025665 NA 0.9559296 NA 0.04407043 NA FALSE NA 1 7.462 . missense_variant MODERATE RPH3A HGNC 17056 ENST00000548866 13/20 1 deleterious(0.01) probably_damaging(0.942) NA GCC C,T 8.236e-06 12:112881781 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 missense_variant 6.64934 0.99331 0.98031 0.554377 0.9993448 0 0.7386035 FALSE NA ENSE00001764140_010 ENSE00001764140 010 12 113319524 113319693 + 53 75 42 C T 113319600 3331 77 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAATGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881794 112881795 112881795 exon 24 0.32 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAATGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 326 447 0.9900746 0.9675497 0.9788121 NA NA 0.9921158 0.9197434 NA NA -0.002041179 0.04780631 NA 0.9559296 NA 0.02288257 NA FALSE NA 0.014 -1.014 rs2240194 synonymous_variant LOW RPH3A HGNC 17056 ENST00000548866 13/20 rs2240194 1 C:0.4317 T:0.7148 T:0.6066 NA T:0.6181 T:0.4264 T:0.4376 T:0.6614 T:0.4109 ACG C,T 0.448 12:112881795 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 synonymous_variant 1.673723 0.82477 0.03747 0.554377 0.7172336 0 0.7386035 FALSE 0.450939 ENSE00001764140_012 ENSE00001764140 012 12 113319524 113319693 + 53 75 42 C T 113319618 3333 95 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTATGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881812 112881813 112881813 exon -34 0.56 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTATGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 877 405 0.9582561 0.9650665 0.9616613 NA NA 0.9921158 0.9197434 NA NA -0.03385973 0.04532317 NA 0.9559296 NA 0.005731721 NA FALSE NA 0.502 -0.131 . synonymous_variant LOW RPH3A HGNC 17056 ENST00000548866 13/20 1 NA ACG C,T 8.236e-06 12:112881813 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 synonymous_variant 1.625902 0.9634 0.33646 0.497415 0.5841152 0 0.7386035 FALSE NA ENSE00001764140_013 ENSE00001764140 013 12 113319524 113319693 + 53 75 42 G A 113319619 3334 96 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACATTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881813 112881814 112881814 exon -33 0.5733333 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACATTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 37 267 0.9640424 0.9148143 0.9394283 NA NA 0.9921158 0.9197434 NA NA -0.0280734 -0.004929066 NA 0.9559296 NA -0.01650123 NA FALSE NA 1 7.599 . missense_variant MODERATE RPH3A HGNC 17056 ENST00000548866 13/20 rs368476874 1 deleterious(0.01) possibly_damaging(0.723) A:0.0010 A:0 A:0.0014 NA A:0.004 A:0 A:0 A:0 A:0.0001 CGT G,A 5.765e-05 12:112881814 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 missense_variant 6.638101 0.99347 0.98326 0.497415 0.9988678 0 0.7386035 FALSE 4.89848e-05 ENSE00001764140_014 ENSE00001764140 014 12 113319524 113319693 + 53 75 42 C T 113319625 3335 102 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGTTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881819 112881820 112881820 exon -27 0.6533333 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGTTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 16 643 0.960949 0.97797 0.9694595 NA NA 0.9921158 0.9197434 NA NA -0.03116676 0.05822667 NA 0.9559296 NA 0.01352995 NA FALSE NA 1 1.961 . synonymous_variant LOW RPH3A HGNC 17056 ENST00000548866 13/20 1 NA GCT C,T 8.236e-06 12:112881820 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 synonymous_variant 1.441423 0.98905 0.90789 0.497415 0.7858734 0 0.7386035 FALSE 1.63408e-05 ENSE00001764140_017 ENSE00001764140 017 12 113319524 113319693 + 53 75 42 C G 113319655 3338 132 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTAGCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881849 112881850 112881850 downstr_intron 4 1.097561 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTAGCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant 15 50 0.9353969 0.85 0.8926984 NA NA NA NA NA NA NA 0.9921158 0.9197434 NA NA NA NA NA 0.9559296 NA NA NA NA NA 1 1.348 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:112881850 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 splice_region_variant 2.092102 0.97741 0.72412 0.065574 0.9261915 0.851984 0.7386035 FALSE 8.21146e-06 ENSE00001764140_018 ENSE00001764140 018 12 113319524 113319693 + 53 75 42 C T 113319655 3339 132 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTATCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881849 112881850 112881850 downstr_intron 4 1.097561 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTATCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 447 70 0.9967324 1 0.9983662 NA NA 0.9921158 0.9197434 NA NA 0.004616649 0.08025665 NA 0.9559296 NA 0.04243665 NA FALSE NA 1 1.348 NA NA NA RPH3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPH3A NA NA NA ENSG00000089169 ENSE00003480164 splice_region_variant 2.369995 0.97646 0.35222 0.065574 0.9116371 0.851984 0.7386035 FALSE 8.21146e-06 ENSE00001764140_019 ENSE00001764140 019 12 113319524 113319693 + 53 75 42 C T 113319656 3340 133 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACTATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 112881850 112881851 112881851 downstr_intron 5 1.121951 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACTATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 733 177 0.9931829 0.990914 0.9920484 NA NA 0.9921158 0.9197434 NA NA 0.001067066 0.07117063 NA 0.9559296 NA 0.03611885 NA FALSE NA 0.998 0.314 . splice_region_variant&intron_variant LOW RPH3A HGNC 17056 ENST00000548866 13/19 1 NA CCA C,T 1.647e-05 12:112881851 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 splice_region_variant 2.175929 0.97473 0.36551 0.065574 0.9078753 0.368221 0.7386035 FALSE NA ENSE00001764140_023 ENSE00001764140 023 12 113319524 113319693 + 53 75 42 C A 113319682 3344 159 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACAGGGTGCATGGG 112881718 112881888 112881876 112881877 112881877 downstr_intron 31 1.756098 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACAGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 215 134 0.9656442 0.983158 0.9744011 NA NA 0.9921158 0.9197434 NA NA -0.02647159 0.06341462 NA 0.9559296 NA 0.01847151 NA FALSE NA 0 -0.83 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:112881877 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 intron_variant 0.84431 0.1594 0.07609 0.053691 0.8436152 0.138591 0.7386035 FALSE 4.27e-06 ENSE00001764140_024 ENSE00001764140 024 12 113319524 113319693 + 53 75 42 G A 113319683 3345 160 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCAGGTGCATGGG 112881718 112881888 112881877 112881878 112881878 downstr_intron 32 1.780488 CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCAGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG mutant NA NA NA NA NA 374 434 0.9987685 0.9872119 0.9929902 NA NA 0.9921158 0.9197434 NA NA 0.006652721 0.06746857 NA 0.9559296 NA 0.03706065 NA FALSE NA 0 -1.076 NA NA NA RPH3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:112881878 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003480164 intron_variant 0.789415 0.18555 0.00886 0.053691 0.810691 0.138591 0.7386035 FALSE 4.74126e-05 ENSE00001764140_BRK ENSE00001764140 BRK 12 113319524 113319693 + 53 75 42 A,G; T,T NA NA NA CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCTTGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGCCACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG 112881718 112881888 NA NA NA NA NA NA CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCTTGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGCCACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG CTGAGCACTGGGCCCTCCTGAGGCCCTCACACCATTGCCTCCTTCTCTTGCAGGGCCTGAAGCCCATGGATTCAAACGGCTTGGCTGATCCCTACGTTAAGCTGCACCTCCTGCCGGGAGCCAGCAAGGTACCATATGGCCTGGGCTTCTCTGCAAACCGGGTGCATGGG control 85 71 0 0 0 76 55 0 0.197338 0.098669 NA NA 0.9921158 0.9197434 NA NA -0.9921158 -0.7224054 NA 0.9559296 NA -0.8572606 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPH3A NA NA NA ENSG00000089169 ENSE00003480164 NA NA NA NA NA NA NA 0.7386035 FALSE NA ENSE00001764374_000 ENSE00001764374 000 3 49138752 49138921 - 36 87 47 NA NA NA NA NA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 NA NA NA NA NA NA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA natural NA NA NA NA NA 2925 2373 0.9874296 0.9353419 0.9613857 NA NA 0.9874296 0.9353419 NA NA 0 0 NA 0.9613857 NA 0 NA FALSE NA NA NA NA NA NA QARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA QARS NA NA NA ENSG00000172053 ENSE00003668410 NA NA NA NA NA NA NA 8.789698e-08 FALSE NA ENSE00001764374_002 ENSE00001764374 002 3 49138752 49138921 - 36 87 47 T A 49138769 1140 153 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGTCCTGGCAAGCAAGATGA 49101318 49101488 49101335 49101336 49101336 downstr_intron 19 1.542857 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGTCCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 471 59 1 1 1 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06465812 NA 0.9613857 NA 0.03861426 NA FALSE NA 0.001 0.776 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA GTC T,A 8.237e-06 3:49101336 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 intron_variant 0.500935 0.2278 0.18293 0.256867 0.3296941 0.130187 8.789698e-08 FALSE 4.11994e-06 ENSE00001764374_003 ENSE00001764374 003 3 49138752 49138921 - 36 87 47 C T 49138771 1141 151 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGAGACCTGGCAAGCAAGATGA 49101318 49101488 49101337 49101338 49101338 downstr_intron 17 1.485714 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGAGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 19 234 1 0.9993235 0.9996618 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06398166 NA 0.9613857 NA 0.03827603 NA FALSE NA 0 0.041 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA CCC C,T 1.647e-05 3:49101338 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 intron_variant 0.084533 0.20076 0.15889 0.256867 0.2614553 0.130187 8.789698e-08 FALSE 8.22578e-06 ENSE00001764374_004 ENSE00001764374 004 3 49138752 49138921 - 36 87 47 A G 49138778 1142 144 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGCGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101344 49101345 49101345 downstr_intron 10 1.285714 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGCGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 211 18 0.99276 1 0.99638 NA NA 0.9874296 0.9353419 NA NA 0.005330432 0.06465812 NA 0.9613857 NA 0.03499428 NA FALSE NA 0 0.013 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA CAC A,G 4.118e-05 3:49101345 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 intron_variant 0.363784 0.14325 0.06401 0.256867 0.6267537 0.18066 8.789698e-08 FALSE 3.68176e-05 ENSE00001764374_005 ENSE00001764374 005 3 49138752 49138921 - 36 87 47 C G 49138779 1143 143 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATCTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101345 49101346 49101346 downstr_intron 9 1.257143 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATCTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 93 2476 1 0.9982047 0.9991024 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06286283 NA 0.9613857 NA 0.03771661 NA FALSE NA 0.001 -0.329 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA ACA C,G 8.236e-06 3:49101346 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 intron_variant 0.443614 0.22069 0.04941 0.256867 0.6438856 0.18066 8.789698e-08 FALSE 4.08891e-06 ENSE00001764374_006 ENSE00001764374 006 3 49138752 49138921 - 36 87 47 T C 49138810 1144 112 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAGTTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101376 49101377 49101377 exon -23 0.7471264 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAGTTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 15 68 1 1 1 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06465812 NA 0.9613857 NA 0.03861426 NA FALSE NA 1 5.779 rs11539148 upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 rs11539148 1 C:0.0164 C:0.0015 C:0.0202 NA C:0.001 C:0.0596 C:0.0051 C:0.0141 C:0.0572 ATT T,C 0.039 3:49101377 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 missense_variant 1.716046 0.98877 0.97981 0.706548 0.9834101 0 8.789698e-08 FALSE 0.0399553 ENSE00001764374_007 ENSE00001764374 007 3 49138752 49138921 - 36 87 47 C T 49138823 1145 99 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATACCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101389 49101390 49101390 exon -36 0.5977011 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATACCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 178 1249 1 0.9973958 0.9986979 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06205395 NA 0.9613857 NA 0.03731218 NA FALSE NA 1 7.28 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA GCA C,T 3.295e-05 3:49101390 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 missense_variant 7.31904 0.99499 0.99041 0.706548 0.9961848 0 8.789698e-08 FALSE 1.62516e-05 ENSE00001764374_008 ENSE00001764374 008 3 49138752 49138921 - 36 87 47 T C 49138832 1146 90 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATGTTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101398 49101399 49101399 exon 43 0.4942529 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATGTTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 16 90 1 1 1 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06465812 NA 0.9613857 NA 0.03861426 NA FALSE NA 1 5.75 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA ATA T,C 8.236e-06 3:49101399 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 missense_variant 3.752872 0.99312 0.9828 0.706548 0.9976206 0 8.789698e-08 FALSE 1.2185e-05 ENSE00001764374_009 ENSE00001764374 009 3 49138752 49138921 - 36 87 47 A G 49138833 1147 89 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCACATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101399 49101400 49101400 exon 42 0.4827586 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCACATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 228 179 0.9974453 1 0.9987226 NA NA 0.9874296 0.9353419 NA NA 0.01001569 0.06465812 NA 0.9613857 NA 0.03733691 NA FALSE NA 1 0.795 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA TAT A,G 8.236e-06 3:49101400 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 synonymous_variant -0.018713 0.9528 0.40521 0.706548 0.9942591 0 8.789698e-08 FALSE 4.06141e-06 ENSE00001764374_010 ENSE00001764374 010 3 49138752 49138921 - 36 87 47 C T 49138836 1148 86 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTACATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101402 49101403 49101403 exon 39 0.4482759 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTACATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 375 51 0.9990081 1 0.9995041 NA NA 0.9874296 0.9353419 NA NA 0.01157851 0.06465812 NA 0.9613857 NA 0.03811832 NA FALSE NA 1 0.724 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 rs547663940 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 GCA C,T 2.471e-05 3:49101403 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 synonymous_variant 1.613534 0.98357 0.89832 0.706548 0.9986938 0 8.789698e-08 FALSE 1.62463e-05 ENSE00001764374_015 ENSE00001764374 015 3 49138752 49138921 - 36 87 47 G A 49138859 1153 63 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCTCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101425 49101426 49101426 exon 16 0.183908 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCTCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 405 773 0.9998983 0.999746 0.9998222 NA NA 0.9874296 0.9353419 NA NA 0.01246874 0.06440415 NA 0.9613857 NA 0.03843645 NA FALSE NA 1 9.206 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA GGG G,A 8.236e-06 3:49101426 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 missense_variant 6.356332 0.99513 0.99461 0.706548 0.9988477 0 8.789698e-08 FALSE 4.06402e-06 ENSE00001764374_017 ENSE00001764374 017 3 49138752 49138921 - 36 87 47 G A 49138865 1155 57 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCTGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101431 49101432 49101432 exon 10 0.1149425 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCTGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 97 240 1 1 1 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06465812 NA 0.9613857 NA 0.03861426 NA FALSE NA 1 9.206 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA CGG G,A 1.647e-05 3:49101432 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 missense_variant 8.218535 0.99513 0.99461 0.706548 0.996484 0 8.789698e-08 FALSE 1.62545e-05 ENSE00001764374_018 ENSE00001764374 018 3 49138752 49138921 - 36 87 47 G A 49138888 1156 34 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATTCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101454 49101455 49101455 upstr_intron -14 -0.2765957 ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATTCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 42 15 1 1 1 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06465812 NA 0.9613857 NA 0.03861426 NA FALSE NA 0 -0.411 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 rs201610281 1 NA GGA G,A 2.471e-05 3:49101455 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 intron_variant 1.1885 0.21709 0.0345 0.099367 0.6689064 0.261831 8.789698e-08 FALSE 1.22118e-05 ENSE00001764374_019 ENSE00001764374 019 3 49138752 49138921 - 36 87 47 G T 49138898 1157 24 ATCTGAGCTCAGACTTTATTTCTATTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101464 49101465 49101465 upstr_intron -24 -0.4893617 ATCTGAGCTCAGACTTTATTTCTATTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 53 34 1 1 1 NA NA 0.9874296 0.9353419 NA NA 0.0125704 0.06465812 NA 0.9613857 NA 0.03861426 NA FALSE NA 0 -0.047 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 rs370929072 1 NA T:0 T:0.0001 AGA G,T 4.942e-05 3:49101465 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 intron_variant -0.034418 0.27926 0.36176 0.099367 0.712153 0.0516759 8.789698e-08 FALSE 3.26768e-05 ENSE00001764374_020 ENSE00001764374 020 3 49138752 49138921 - 36 87 47 G A 49138908 1158 14 ATCTGAGCTCAGATTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101474 49101475 49101475 upstr_intron -34 -0.7021277 ATCTGAGCTCAGATTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 316 510 0.9835968 0.9886179 0.9861074 NA NA 0.9874296 0.9353419 NA NA -0.003832769 0.053276 NA 0.9613857 NA 0.02472162 NA FALSE NA 0 0.178 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA AGT G,A 8.236e-06 3:49101475 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 intron_variant 0.431204 0.23732 0.05241 0.099367 0.6735923 0.0517534 8.789698e-08 FALSE NA ENSE00001764374_021 ENSE00001764374 021 3 49138752 49138921 - 36 87 47 C T 49138910 1159 12 ATCTGAGCTCAAACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 49101476 49101477 49101477 upstr_intron -36 -0.7446809 ATCTGAGCTCAAACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA mutant NA NA NA NA NA 624 66 0.8815739 0.972689 0.9271314 NA NA 0.9874296 0.9353419 NA NA -0.1058557 0.03734709 NA 0.9613857 NA -0.03425431 NA FALSE NA 0 -0.426 . upstream_gene_variant MODIFIER QARS HGNC 9751 ENST00000466179 1 NA TCT C,T 8.237e-06 3:49101477 QARS HGNC Symbol protein_coding 9203 ENSG00000172053 ENSE00003668410 intron_variant 0.452173 0.28328 0.12442 0.099367 0.6806382 0.0517534 8.789698e-08 FALSE 4.0947e-06 ENSE00001764374_BRK ENSE00001764374 BRK 3 49138752 49138921 - 36 87 47 A,G; T,T NA NA NA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTTTGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGCCAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA 49101318 49101488 NA NA NA NA NA NA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTTTGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGCCAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA ATCTGAGCTCAGACTTTATTTCTCTTTTCCCATCCCCCTTATTTTAGGTACGTACCCGGTTCCCGCCAGAACCCAATGGAATCCTGCATATTGGACATGCCAAAGCCATCAATTTCAACTTTGGCTATGCCAAGGTAAGCATGTGTCTAGGGACCTGGCAAGCAAGATGA control NA NA NA NA NA 30 47 0 0 0 NA NA 0.9874296 0.9353419 NA NA -0.9874296 -0.9353419 NA 0.9613857 NA -0.9613857 NA TRUE NA NA NA NA NA NA QARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA QARS NA NA NA ENSG00000172053 ENSE00003668410 NA NA NA NA NA NA NA 8.789698e-08 FALSE NA ENSE00001764837_000 ENSE00001764837 000 13 113460477 113460646 + 50 81 39 NA NA NA NA NA TCACTCATTTGTGTTTTTGAAGATGATTTTACAATTCTCTCTTTCTGCAGTTGATTATTGATACACCCACAAGTCCAGTGACAAGCGGACTTCCACTCTTCTTTGTCATTACTGTGACGGCTATCAAACAGGTAAGCATTTTACAGACGAAAAAGAAGCAATCGTCATCT 112806162 112806332 NA NA NA NA NA NA TCACTCATTTGTGTTTTTGAAGATGATTTTACAATTCTCTCTTTCTGCAGTTGATTATTGATACACCCACAAGTCCAGTGACAAGCGGACTTCCACTCTTCTTTGTCATTACTGTGACGGCTATCAAACAGGTAAGCATTTTACAGACGAAAAAGAAGCAATCGTCATCT TCACTCATTTGTGTTTTTGAAGATGATTTTACAATTCTCTCTTTCTGCAGTTGATTATTGATACACCCACAAGTCCAGTGACAAGCGGACTTCCACTCTTCTTTGTCATTACTGTGACGGCTATCAAACAGGTAAGCATTTTACAGACGAAAAAGAAGCAATCGTCATCT natural NA NA NA NA NA 1517 2067 0.9955817 0.9903918 0.9929868 NA NA 0.9955817 0.9903918 NA NA 0 0 NA 0.9929868 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003592659 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001765217_000 ENSE00001765217 000 X 53661140 53661309 - 48 63 59 NA NA NA NA NA TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCTTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGGTGTCTTTTGACAGAGCTGTGGCCT 53634187 53634357 NA NA NA NA NA NA TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCTTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGGTGTCTTTTGACAGAGCTGTGGCCT TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCTTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGGTGTCTTTTGACAGAGCTGTGGCCT natural 38 60 0.9993085 0.9999144 0.9996114 1471 733 0.9804924 0.9786376 0.979565 0.9993085 0.9999144 0.9804924 0.9786376 0 0 0 0 0.9996114 0.979565 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HUWE1 NA NA NA ENSG00000086758 ENSE00001765217 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001765217_003 ENSE00001765217 003 X 53661140 53661309 - 48 63 59 C T 53661164 539 146 TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCTTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGATGTCTTTTGACAGAGCTGTGGCCT 53634187 53634357 53634211 53634212 53634212 downstr_intron 24 1.510638 TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCTTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGATGTCTTTTGACAGAGCTGTGGCCT TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCTTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGGTGTCTTTTGACAGAGCTGTGGCCT mutant NA NA NA NA NA 36 679 1 0.9953127 0.9976564 0.9993085 0.9999144 0.9804924 0.9786376 NA NA 0.01950761 0.01667516 0.9996114 0.979565 NA 0.01809138 NA FALSE NA 0 0.27 NA NA NA HUWE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:53634212 HUWE1 HGNC Symbol protein_coding 154633 ENSG00000086758 ENSE00001765217 intron_variant 0.17061 0.1736 0.13328 0 0.5383853 0.0469587 1 TRUE 5.60315e-06 ENSE00001765217_005 ENSE00001765217 005 X 53661140 53661309 - 48 63 59 A G 53661266 541 44 TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCCTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGGTGTCTTTTGACAGAGCTGTGGCCT 53634187 53634357 53634313 53634314 53634314 upstr_intron -16 -0.2542373 TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCCTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGGTGTCTTTTGACAGAGCTGTGGCCT TGCAGTGGCGCAAAGTCACCATAAGCACTGTCTTAACACTATCTTTTTCCTTTTTCAAGAGCTGGGGTGGAAAGGAGAATGGCTTTGGACTTGCAGAATGTTGCAGAGACTTGCATATGATGGTAAGTAACTCTTTGGGATATGGGTGTCTTTTGACAGAGCTGTGGCCT mutant NA NA NA NA NA 268 115 0.9976736 1 0.9988368 0.9993085 0.9999144 0.9804924 0.9786376 NA NA 0.01718121 0.02136241 0.9996114 0.979565 NA 0.01927181 NA FALSE NA 0.959 0.541 . intron_variant MODIFIER HUWE1 HGNC 30892 ENST00000218328 7/40 1 NA AAG A,G 8.237e-06 X:53634314 HUWE1 HGNC Symbol protein_coding 154633 ENSG00000086758 ENSE00001765217 intron_variant 0.598245 0.90238 0.18776 0 0.7486716 0.233636 1 TRUE NA ENSE00001766428_000 ENSE00001766428 000 15 74626175 74626344 + 47 87 36 NA NA NA NA NA CACAGCCTCCAGCTGGGGCCAAATGTGAGTTTGTGCTTTGCCCACAGGATCTCCTCTCTGGTACTTCAGACAAGTTCAACCTCCTGGCCAAGCTGGAACACGCTCAGAGCCGGATCCTGTCCCTGGAAAGCCAGGTGGGTGAGATGCAGGAGTTGATGAGGCTGGATCAG 74333833 74334003 NA NA NA NA NA NA CACAGCCTCCAGCTGGGGCCAAATGTGAGTTTGTGCTTTGCCCACAGGATCTCCTCTCTGGTACTTCAGACAAGTTCAACCTCCTGGCCAAGCTGGAACACGCTCAGAGCCGGATCCTGTCCCTGGAAAGCCAGGTGGGTGAGATGCAGGAGTTGATGAGGCTGGATCAG CACAGCCTCCAGCTGGGGCCAAATGTGAGTTTGTGCTTTGCCCACAGGATCTCCTCTCTGGTACTTCAGACAAGTTCAACCTCCTGGCCAAGCTGGAACACGCTCAGAGCCGGATCCTGTCCCTGGAAAGCCAGGTGGGTGAGATGCAGGAGTTGATGAGGCTGGATCAG natural 54 58 0.9861434 0.987539 0.9868412 729 599 0.8958694 0.9919929 0.9439311 0.9861434 0.987539 0.8958694 0.9919929 0 0 0 0 0.9868412 0.9439311 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC33 NA NA NA ENSG00000140481 ENSE00003606987 NA NA NA NA NA NA NA 8.634872e-09 FALSE NA ENSE00001766428_023 ENSE00001766428 023 15 74626175 74626344 + 47 87 36 G A 74626312 1874 138 CTGATCCAGCCTCATCAACTCCTGCATCTCACTCACCTGGCTTTCCAGGGACAGGATCCGGCTCTGAGCGTGTTCCAGCTTGGCCAGGAGGTTGAACTTGTCTGAAGTACCAGAGAGGAGATCCTGTGGGCAAAGCACAAACTCACATTTGGCCCCAGCTGGAGGCTGTG 74333833 74334003 74333970 74333971 74333971 downstr_intron 4 1.114286 CACAGCCTCCAGCTGGGGCCAAATGTGAGTTTGTGCTTTGCCCACAGGATCTCCTCTCTGGTACTTCAGACAAGTTCAACCTCCTGGCCAAGCTGGAACACGCTCAGAGCCGGATCCTGTCCCTGGAAAGCCAGGTGAGTGAGATGCAGGAGTTGATGAGGCTGGATCAG CACAGCCTCCAGCTGGGGCCAAATGTGAGTTTGTGCTTTGCCCACAGGATCTCCTCTCTGGTACTTCAGACAAGTTCAACCTCCTGGCCAAGCTGGAACACGCTCAGAGCCGGATCCTGTCCCTGGAAAGCCAGGTGGGTGAGATGCAGGAGTTGATGAGGCTGGATCAG mutant 10 30 0.9966049 0.9771155 0.9868602 51 19 1 1 1 0.9861434 0.987539 0.8958694 0.9919929 0.01046148 -0.0104235 0.1041306 0.008007119 0.9868412 0.9439311 1.899086e-05 0.05606887 0.05604987 FALSE FALSE 0.004 -0.239 NA NA NA CYP11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:74333971 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00003606987 splice_region_variant 0.614572 0.40192 0.02944 0.053691 0.691921 0.363045 8.634872e-09 FALSE 4.07724e-06 ENSE00001766428_027 ENSE00001766428 027 15 74626175 74626344 + 47 87 36 G A 74626332 1878 158 CTGATCCAGCCTTATCAACTCCTGCATCTCACCCACCTGGCTTTCCAGGGACAGGATCCGGCTCTGAGCGTGTTCCAGCTTGGCCAGGAGGTTGAACTTGTCTGAAGTACCAGAGAGGAGATCCTGTGGGCAAAGCACAAACTCACATTTGGCCCCAGCTGGAGGCTGTG 74333833 74334003 74333990 74333991 74333991 downstr_intron 24 1.685714 CACAGCCTCCAGCTGGGGCCAAATGTGAGTTTGTGCTTTGCCCACAGGATCTCCTCTCTGGTACTTCAGACAAGTTCAACCTCCTGGCCAAGCTGGAACACGCTCAGAGCCGGATCCTGTCCCTGGAAAGCCAGGTGGGTGAGATGCAGGAGTTGATAAGGCTGGATCAG CACAGCCTCCAGCTGGGGCCAAATGTGAGTTTGTGCTTTGCCCACAGGATCTCCTCTCTGGTACTTCAGACAAGTTCAACCTCCTGGCCAAGCTGGAACACGCTCAGAGCCGGATCCTGTCCCTGGAAAGCCAGGTGGGTGAGATGCAGGAGTTGATGAGGCTGGATCAG mutant NA NA NA NA NA 158 125 1 0.9778614 0.9889307 0.9861434 0.987539 0.8958694 0.9919929 NA NA 0.1041306 -0.01413149 0.9868412 0.9439311 NA 0.04499956 NA FALSE NA 0 -1.009 . downstream_gene_variant MODIFIER CYP11A1 HGNC 2590 ENST00000358632 rs200647667 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGA G,A 6.611e-05 15:74333991 CCDC33 HGNC Symbol protein_coding 133767 ENSG00000140481 ENSE00003606987 intron_variant 0.147988 0.19886 0.01918 0.053691 0.6917444 0.0958252 8.634872e-09 FALSE 2.87437e-05 ENSE00001767172_000 ENSE00001767172 000 3 47298932 47299101 - 41 78 51 NA NA NA NA NA GGTCTCACTTTAGTGGCGAGCCATCTAATGTCTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA 47257441 47257611 NA NA NA NA NA NA GGTCTCACTTTAGTGGCGAGCCATCTAATGTCTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA GGTCTCACTTTAGTGGCGAGCCATCTAATGTCTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA natural 35 25 0.9875995 0.9865673 0.9870834 1040 394 0.9336864 0.8839869 0.9088366 0.9875995 0.9865673 0.9336864 0.8839869 0 0 0 0 0.9870834 0.9088366 0 0 0 FALSE FALSE NA NA NA NA NA KIF9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF9 NA NA NA ENSG00000088727 ENSE00003573508 NA NA NA NA NA NA NA 2.173573e-11 FALSE NA ENSE00001767172_012 ENSE00001767172 012 3 47298932 47299101 - 41 78 51 C A 47299064 827 38 GGTCTCACTTTAGTGGCGAGCCATCTAATGTCTACCTTCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA 47257441 47257611 47257573 47257574 47257574 upstr_intron -14 -0.254902 GGTCTCACTTTAGTGGCGAGCCATCTAATGTCTACCTTCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA GGTCTCACTTTAGTGGCGAGCCATCTAATGTCTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA mutant NA NA NA NA NA 465 187 0.9739692 0.9997962 0.9868827 0.9875995 0.9865673 0.9336864 0.8839869 NA NA 0.04028279 0.1158094 0.9870834 0.9088366 NA 0.07804607 NA FALSE NA 0.001 0.798 . intron_variant&NMD_transcript_variant MODIFIER KIF9 HGNC 16666 ENST00000443784 10/13 1 NA GCA C,A 1.647e-05 3:47257574 KIF9 HGNC Symbol protein_coding 55425 ENSG00000088727 ENSE00003573508 intron_variant 0.933723 0.64342 0.02955 0.056701 0.7403206 0.950814 2.173573e-11 FALSE NA ENSE00001767172_013 ENSE00001767172 013 3 47298932 47299101 - 41 78 51 A T 47299071 828 31 GGTCTCACTTTAGTGGCGAGCCATCTAATGACTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA 47257441 47257611 47257580 47257581 47257581 upstr_intron -21 -0.3921569 GGTCTCACTTTAGTGGCGAGCCATCTAATGACTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA GGTCTCACTTTAGTGGCGAGCCATCTAATGTCTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA mutant NA NA NA NA NA 474 98 0.9947863 0.9983828 0.9965845 0.9875995 0.9865673 0.9336864 0.8839869 NA NA 0.0610999 0.1143959 0.9870834 0.9088366 NA 0.08774789 NA FALSE NA 0 0.104 . intron_variant&NMD_transcript_variant MODIFIER KIF9 HGNC 16666 ENST00000443784 10/13 rs374673156 1 NA T:0 T:0.0001 GAC A,T 8.236e-06 3:47257581 KIF9 HGNC Symbol protein_coding 55425 ENSG00000088727 ENSE00003573508 intron_variant 0.449849 0.21658 0.01557 0.056701 0.8001281 0.0672744 2.173573e-11 FALSE 4.09873e-06 ENSE00001767172_015 ENSE00001767172 015 3 47298932 47299101 - 41 78 51 C T 47299084 830 18 GGTCTCACTTTAGTGGCAAGCCATCTAATGTCTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA 47257441 47257611 47257593 47257594 47257594 upstr_intron -34 -0.6470588 GGTCTCACTTTAGTGGCAAGCCATCTAATGTCTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA GGTCTCACTTTAGTGGCGAGCCATCTAATGTCTACCTGCTCTGTTTTGCAGCTATCTTCACTGAGATTTGCCAGCAGGATGAAGCTAGTCACCACTGAGCCTGCCATCAATGAAAAGTATGATGCTGAGGTACAGCAGGGGTTGTGGACAGGTGTCCCACTGTGGGGAAA mutant NA NA NA NA NA 19 75 1 1 1 0.9875995 0.9865673 0.9336864 0.8839869 NA NA 0.06631362 0.1160131 0.9870834 0.9088366 NA 0.09116338 NA FALSE NA 0 0.431 . intron_variant&NMD_transcript_variant MODIFIER KIF9 HGNC 16666 ENST00000443784 10/13 rs369911151 1 NA T:0.0002 T:0.0006 TCG C,T 0.0009719 3:47257594 KIF9 HGNC Symbol protein_coding 55425 ENSG00000088727 ENSE00003573508 intron_variant -0.018443 0.19433 0.01537 0.056701 0.6064838 0.0672744 2.173573e-11 FALSE 0.000999389 ENSE00001767213_000 ENSE00001767213 000 16 57785104 57785273 + 69 42 59 NA NA NA NA NA GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 NA NA NA NA NA NA GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG natural 82 150 0.9986233 0.9740787 0.986351 1284 1601 0.9960582 0.9816813 0.9888697 0.9986233 0.9740787 0.9960582 0.9816813 0 0 0 0 0.986351 0.9888697 0 0 0 FALSE FALSE NA NA NA NA NA KATNB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KATNB1 NA NA NA ENSG00000140854 ENSE00003520461 NA NA NA NA NA NA NA 0.496734 FALSE NA ENSE00001767213_001 ENSE00001767213 001 16 57785104 57785273 + 69 42 59 G A 57785122 2012 19 GCACACCTTCCTCCAGTCATGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751209 57751210 57751210 upstr_intron -51 -0.7246377 GCACACCTTCCTCCAGTCATGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 246 241 0.9971209 1 0.9985604 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.001062687 0.01831873 0.986351 0.9888697 NA 0.009690706 NA FALSE NA 0 -1.885 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA CGT G,A 1.647e-05 16:57751210 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant -0.1477 0.13819 0.00698 0.078448 0.6554534 0.0772544 0.496734 FALSE 3.26987e-05 ENSE00001767213_002 ENSE00001767213 002 16 57785104 57785273 + 69 42 59 C T 57785126 2013 23 GCACACCTTCCTCCAGTCGTGGTTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751213 57751214 57751214 upstr_intron -47 -0.6666667 GCACACCTTCCTCCAGTCGTGGTTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 38 36 0.8791729 0.9276842 0.9034285 67 736 1 0.9944346 0.9972173 0.9986233 0.9740787 0.9960582 0.9816813 -0.1194504 -0.04639453 0.003941814 0.01275331 0.986351 0.9888697 -0.08292247 0.00834756 0.09127003 FALSE FALSE 0 -0.17 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA GCT C,T 1.647e-05 16:57751214 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant 0.441739 0.16107 0.06828 0.078448 0.7612382 0.0447689 0.496734 FALSE 8.16227e-06 ENSE00001767213_003 ENSE00001767213 003 16 57785104 57785273 + 69 42 59 T A 57785136 2014 33 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCACCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751223 57751224 57751224 upstr_intron -37 -0.5217391 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCACCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 125 128 1 0.9997021 0.9998511 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.003941814 0.01802085 0.986351 0.9888697 NA 0.01098133 NA FALSE NA 0 -0.242 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA CTC T,A 8.237e-06 16:57751224 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant 1.07255 0.21463 0.16192 0.162113 0.8423943 0.165363 0.496734 FALSE 4.06884e-06 ENSE00001767213_004 ENSE00001767213 004 16 57785104 57785273 + 69 42 59 C T 57785138 2015 35 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCTTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751225 57751226 57751226 upstr_intron -35 -0.4927536 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCTTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 32 16 0.996894 1 0.998447 983 109 0.9544322 0.9926925 0.9735624 0.9986233 0.9740787 0.9960582 0.9816813 -0.001729262 0.02592128 -0.04162597 0.01101125 0.986351 0.9888697 0.01209601 -0.01530736 0.02740337 FALSE FALSE 0 -0.168 rs9938236 intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA CCT C,T 0.078 16:57751226 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant 1.171163 0.2252 0.05873 0.162113 0.8491904 0.163331 0.496734 FALSE 0.0748415 ENSE00001767213_005 ENSE00001767213 005 16 57785104 57785273 + 69 42 59 G C 57785140 2016 37 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTCACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751227 57751228 57751228 upstr_intron -33 -0.4637681 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTCACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 14 34 0.9810091 0.8501503 0.9155797 NA NA NA NA NA 0.9986233 0.9740787 0.9960582 0.9816813 -0.01761414 -0.1239284 NA NA 0.986351 0.9888697 -0.07077126 NA NA NA FALSE 0.001 0.508 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA TGA G,C 8.237e-06 16:57751228 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant 0.814069 0.20195 0.04714 0.162113 0.7074607 0.159368 0.496734 FALSE 8.13623e-06 ENSE00001767213_006 ENSE00001767213 006 16 57785104 57785273 + 69 42 59 C G 57785148 2017 45 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCGCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751235 57751236 57751236 upstr_intron -25 -0.3478261 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCGCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 74 52 0.8640143 0.9482714 0.9061428 52 433 0.9675322 1 0.9837661 0.9986233 0.9740787 0.9960582 0.9816813 -0.134609 -0.02580734 -0.02852599 0.01831873 0.986351 0.9888697 -0.08020817 -0.005103633 0.07510453 FALSE FALSE 0 -0.146 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA CCC C,G 8.237e-06 16:57751236 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant 0.387131 0.18062 0.08828 0.162113 0.6380527 0.0838924 0.496734 FALSE 4.06451e-06 ENSE00001767213_007 ENSE00001767213 007 16 57785104 57785273 + 69 42 59 C T 57785149 2018 46 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCTCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751236 57751237 57751237 upstr_intron -24 -0.3333333 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCTCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 310 20 1 1 1 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.003941814 0.01831873 0.986351 0.9888697 NA 0.01113027 NA FALSE NA 0 0.287 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA CCC C,T 8.237e-06 16:57751237 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant 0.397618 0.19594 0.0786 0.162113 0.7227762 0.12995 0.496734 FALSE 8.12836e-06 ENSE00001767213_008 ENSE00001767213 008 16 57785104 57785273 + 69 42 59 T C 57785156 2019 53 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCCTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751243 57751244 57751244 upstr_intron -17 -0.2318841 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCCTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 15 17 0.9887535 1 0.9943767 41 80 1 0.8276312 0.9138156 0.9986233 0.9740787 0.9960582 0.9816813 -0.009869792 0.02592128 0.003941814 -0.1540501 0.986351 0.9888697 0.008025745 -0.07505414 0.08307989 FALSE FALSE 0 -0.252 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA CTT T,C 8.237e-06 16:57751244 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant 0.034829 0.22986 0.02596 0.162113 0.6474813 0.112503 0.496734 FALSE 8.12625e-06 ENSE00001767213_010 ENSE00001767213 010 16 57785104 57785273 + 69 42 59 C A 57785167 2021 64 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCACACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751254 57751255 57751255 upstr_intron -6 -0.07246377 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCACACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 269 503 1 0.9985397 0.9992698 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.003941814 0.01685841 0.986351 0.9888697 NA 0.01040011 NA FALSE NA 0 -0.054 . splice_region_variant&intron_variant LOW KATNB1 HGNC 6217 ENST00000562592 6/8 1 NA CCC C,A 8.237e-06 16:57751255 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 splice_region_variant 0.883227 0.27371 0.15608 0.262962 0.593354 0.225201 0.496734 FALSE 8.12466e-06 ENSE00001767213_011 ENSE00001767213 011 16 57785104 57785273 + 69 42 59 C G 57785168 2022 65 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCGACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751255 57751256 57751256 upstr_intron -5 -0.05797101 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCGACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 169 52 0.9895888 0.9988059 0.9941973 79 316 1 1 1 0.9986233 0.9740787 0.9960582 0.9816813 -0.009034483 0.02472717 0.003941814 0.01831873 0.986351 0.9888697 0.007846341 0.01113027 0.003283929 FALSE FALSE 0.001 0.25 NA NA NA KATNB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:57751256 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 splice_region_variant 0.217861 0.23915 0.25791 0.262962 0.6147461 0.231357 0.496734 FALSE 0.0126347 ENSE00001767213_013 ENSE00001767213 013 16 57785104 57785273 + 69 42 59 A G 57785180 2024 77 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGGCATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751267 57751268 57751268 exon 8 0.1904762 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGGCATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 178 346 0.8633084 0.85 0.8566542 384 108 0.8137598 0.8338828 0.8238213 0.9986233 0.9740787 0.9960582 0.9816813 -0.1353149 -0.1240787 -0.1822984 -0.1477985 0.986351 0.9888697 -0.1296968 -0.1650484 0.03535165 FALSE FALSE 1 6.861 . missense_variant MODERATE KATNB1 HGNC 6217 ENST00000562592 7/9 1 deleterious(0) probably_damaging(0.999) NA GAC A,G 8.236e-06 16:57751268 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 missense_variant 6.603407 0.99301 0.96138 0.706298 0.998598 0 0.496734 FALSE 4.06197e-06 ENSE00001767213_014 ENSE00001767213 014 16 57785104 57785273 + 69 42 59 A G 57785182 2025 79 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACGTCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751269 57751270 57751270 exon 10 0.2380952 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACGTCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 42 28 0.9907906 0.993928 0.9923593 NA NA NA NA NA 0.9986233 0.9740787 0.9960582 0.9816813 -0.007832661 0.01984924 NA NA 0.986351 0.9888697 0.006008292 NA NA NA FALSE 1 2.634 . missense_variant MODERATE KATNB1 HGNC 6217 ENST00000562592 7/9 1 tolerated(0.62) benign(0.001) NA CAT A,G 8.236e-06 16:57751270 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 missense_variant 1.114185 0.97656 0.53436 0.706298 0.8709231 0 0.496734 FALSE 4.06177e-06 ENSE00001767213_015 ENSE00001767213 015 16 57785104 57785273 + 69 42 59 G A 57785189 2026 86 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAAGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751276 57751277 57751277 exon 17 0.4047619 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAAGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 13 25 0.9993276 0.9774488 0.9883882 NA NA NA NA NA 0.9986233 0.9740787 0.9960582 0.9816813 0.0007043228 0.003370034 NA NA 0.986351 0.9888697 0.002037178 NA NA NA FALSE 1 9.151 . missense_variant MODERATE KATNB1 HGNC 6217 ENST00000562592 7/9 1 tolerated(0.68) benign(0.01) NA AGG G,A 8.236e-06 16:57751277 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 missense_variant 3.495844 0.99462 0.99753 0.706298 0.9938297 0 0.496734 FALSE 4.06164e-06 ENSE00001767213_016 ENSE00001767213 016 16 57785104 57785273 + 69 42 59 G T 57785195 2027 92 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGTCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751282 57751283 57751283 exon -20 0.547619 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGTCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 186 53 1 1 1 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.003941814 0.01831873 0.986351 0.9888697 NA 0.01113027 NA FALSE NA 1 7.313 . missense_variant MODERATE KATNB1 HGNC 6217 ENST00000562592 7/9 1 deleterious(0) benign(0.091) NA GGC G,T 8.236e-06 16:57751283 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 missense_variant 4.83901 0.99483 0.96672 0.706298 0.9965903 0 0.496734 FALSE 4.0619e-06 ENSE00001767213_017 ENSE00001767213 017 16 57785104 57785273 + 69 42 59 C T 57785206 2028 103 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCTGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751293 57751294 57751294 exon -9 0.8095238 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCTGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 21 13 1 0.9977863 0.9988931 92 75 1 0.820718 0.910359 0.9986233 0.9740787 0.9960582 0.9816813 0.001376746 0.02370754 0.003941814 -0.1609633 0.986351 0.9888697 0.01254214 -0.07851074 0.09105288 FALSE FALSE 1 2.068 . stop_gained HIGH KATNB1 HGNC 6217 ENST00000562592 7/9 1 NA HC CCG C,T 8.236e-06 16:57751294 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 stop_gained 13.17846 0.98023 0.95524 0.706298 0.9979768 0 0.496734 FALSE 4.062e-06 ENSE00001767213_018 ENSE00001767213 018 16 57785104 57785273 + 69 42 59 G A 57785207 2029 104 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCAATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751294 57751295 57751295 exon -8 0.8333333 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCAATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 16 19 1 1 1 60 98 0.8 1 0.9 0.9986233 0.9740787 0.9960582 0.9816813 0.001376746 0.02592128 -0.1960582 0.01831873 0.986351 0.9888697 0.01364901 -0.08886973 0.1025187 FALSE FALSE 0.996 3.316 . missense_variant MODERATE KATNB1 HGNC 6217 ENST00000562592 7/9 1 deleterious(0.01) possibly_damaging(0.638) NA CGA G,A 1.647e-05 16:57751295 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 missense_variant 5.282203 0.9809 0.95919 0.706298 0.9986949 0 0.496734 FALSE 8.12407e-06 ENSE00001767213_019 ENSE00001767213 019 16 57785104 57785273 + 69 42 59 G A 57785220 2030 117 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGAATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751307 57751308 57751308 downstr_intron 6 1.103448 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGAATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 15 11 1 1 1 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.003941814 0.01831873 0.986351 0.9888697 NA 0.01113027 NA FALSE NA 0.736 0.417 rs116976731 splice_region_variant&intron_variant LOW KATNB1 HGNC 6217 ENST00000562592 7/8 1 NA GGA G,A 0.001483 16:57751308 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 splice_region_variant 1.110529 0.91817 0.19738 0.078448 0.7478394 0.452212 0.496734 FALSE 0.00146257 ENSE00001767213_020 ENSE00001767213 020 16 57785104 57785273 + 69 42 59 C T 57785224 2031 121 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGTGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751311 57751312 57751312 downstr_intron 10 1.172414 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGTGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 183 1683 0.9997749 0.997487 0.9986309 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.003716715 0.01580569 0.986351 0.9888697 NA 0.009761204 NA FALSE NA 0 -1.481 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 7/8 1 NA GCG C,T 8.236e-06 16:57751312 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant -0.038747 0.16579 0.04273 0.078448 0.6617923 0.0440564 0.496734 FALSE 1.2192e-05 ENSE00001767213_021 ENSE00001767213 021 16 57785104 57785273 + 69 42 59 G A 57785225 2032 122 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCACTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751312 57751313 57751313 downstr_intron 11 1.189655 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCACTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 21 13 0.9915843 1 0.9957921 NA NA NA NA NA 0.9986233 0.9740787 0.9960582 0.9816813 -0.007038978 0.02592128 NA NA 0.986351 0.9888697 0.009441152 NA NA NA FALSE 0 -3.395 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 7/8 1 NA CGC G,A 1.647e-05 16:57751313 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant -0.136609 0.158 0.00772 0.078448 0.6490896 0.0440564 0.496734 FALSE 1.21918e-05 ENSE00001767213_022 ENSE00001767213 022 16 57785104 57785273 + 69 42 59 G C 57785230 2033 127 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTCTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751317 57751318 57751318 downstr_intron 16 1.275862 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTCTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 11 65 1 0.9869659 0.993483 NA NA NA NA NA 0.9986233 0.9740787 0.9960582 0.9816813 0.001376746 0.0128872 NA NA 0.986351 0.9888697 0.007131972 NA NA NA FALSE 0 0.056 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 7/8 1 NA TGT G,C 4.118e-05 16:57751318 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant -0.038757 0.28407 0.04607 0.078448 0.2474628 0.521034 0.496734 FALSE 2.03207e-05 ENSE00001767213_023 ENSE00001767213 023 16 57785104 57785273 + 69 42 59 C T 57785232 2034 129 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTTGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751319 57751320 57751320 downstr_intron 18 1.310345 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTTGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 44 29 0.9171394 0.9327498 0.9249446 345 416 0.9985597 0.9961588 0.9973593 0.9986233 0.9740787 0.9960582 0.9816813 -0.08148382 -0.04132893 0.002501533 0.01447752 0.986351 0.9888697 -0.06140637 0.008489526 0.0698959 FALSE FALSE 0 -1.185 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 7/8 1 NA TCG C,T 8.236e-06 16:57751320 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant -0.147864 0.12669 0.03496 0.078448 0.3842014 0.0440564 0.496734 FALSE 4.06464e-06 ENSE00001767213_024 ENSE00001767213 024 16 57785104 57785273 + 69 42 59 G A 57785233 2035 130 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCAGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751320 57751321 57751321 downstr_intron 19 1.327586 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCAGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 254 40 1 1 1 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.003941814 0.01831873 0.986351 0.9888697 NA 0.01113027 NA FALSE NA 0 -1.722 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 7/8 1 NA CGG A,A 5.765e-05 16:57751321 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant -0.275405 0.1193 0.00904 0.078448 0.3604506 0.0440564 0.496734 FALSE 7.31785e-05 ENSE00001767213_025 ENSE00001767213 025 16 57785104 57785273 + 69 42 59 G C 57785234 2036 131 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGCTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751321 57751322 57751322 downstr_intron 20 1.344828 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGCTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 10 22 0.9947843 1 0.9973921 NA NA NA NA NA 0.9986233 0.9740787 0.9960582 0.9816813 -0.00383897 0.02592128 NA NA 0.986351 0.9888697 0.01104116 NA NA NA FALSE 0 0.08 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 7/8 1 NA GGT G,C 1.647e-05 16:57751322 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant -0.193876 0.16597 0.08328 0.078448 0.18069 0.0440564 0.496734 FALSE 1.21961e-05 ENSE00001767213_026 ENSE00001767213 026 16 57785104 57785273 + 69 42 59 C A 57785238 2037 135 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGAATCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751325 57751326 57751326 downstr_intron 24 1.413793 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGAATCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 47 55 0.9983556 0.9863681 0.9923618 136 250 1 1 1 0.9986233 0.9740787 0.9960582 0.9816813 -0.0002676753 0.01228934 0.003941814 0.01831873 0.986351 0.9888697 0.00601083 0.01113027 0.00511944 FALSE FALSE 0 -1.381 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:57751326 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant 0.34589 0.14368 0.03507 0.078448 0.367902 0.0440564 0.496734 FALSE 4.0662e-06 ENSE00001767213_027 ENSE00001767213 027 16 57785104 57785273 + 69 42 59 C T 57785238 2038 135 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGATTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 57751325 57751326 57751326 downstr_intron 24 1.413793 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGATTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant NA NA NA NA NA 358 134 1 1 1 0.9986233 0.9740787 0.9960582 0.9816813 NA NA 0.003941814 0.01831873 0.986351 0.9888697 NA 0.01113027 NA FALSE NA 0 -1.381 NA NA NA KATNB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KATNB1 NA NA NA ENSG00000140854 ENSE00003520461 intron_variant 0.321866 0.12851 0.00825 0.078448 0.3672857 0.0440564 0.496734 FALSE 4.0662e-06 ENSE00001767213_028 ENSE00001767213 028 16 57785104 57785273 + 69 42 59 G A 57785255 2039 152 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCAGGCATTGAGTGTGGTGTG 57751191 57751361 57751342 57751343 57751343 downstr_intron 41 1.706897 GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCAGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG mutant 24 34 1 0.9969343 0.9984672 NA NA NA NA NA 0.9986233 0.9740787 0.9960582 0.9816813 0.001376746 0.02285563 NA NA 0.986351 0.9888697 0.01211619 NA NA NA FALSE 0 0.169 . intron_variant MODIFIER KATNB1 HGNC 6217 ENST00000562592 7/8 1 NA CGG G,A 8.237e-06 16:57751343 KATNB1 HGNC Symbol protein_coding 21520 ENSG00000140854 ENSE00003520461 intron_variant -0.001028 0.05468 0.00229 0.078448 0.6172363 0.0440564 0.496734 FALSE 2.03864e-05 ENSE00001767213_BRK ENSE00001767213 BRK 16 57785104 57785273 + 69 42 59 A,G; T,T NA NA NA GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACTTCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGCCAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG 57751191 57751361 NA NA NA NA NA NA GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACTTCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGCCAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG GCACACCTTCCTCCAGTCGTGGCTCTGACCTCTCCTGACTCTGCCCCTCTGCTTCTCTCTCCCCCACAGCTCTGGGACATCAGGAGGAAAGGCTGTGTCTTCCGATACAGGGTAAGGATGCGCTCTGTCGGTGACTCCATGAGCACCTTGCGGGCATTGAGTGTGGTGTG control 593 418 0.004437388 0 0.002218694 311 335 0 0 0 0.9986233 0.9740787 0.9960582 0.9816813 -0.9941859 -0.9740787 -0.9960582 -0.9816813 0.986351 0.9888697 -0.9841323 -0.9888697 0.004737438 TRUE TRUE NA NA NA NA NA KATNB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KATNB1 NA NA NA ENSG00000140854 ENSE00003520461 NA NA NA NA NA NA NA 0.496734 FALSE NA ENSE00001768088_000 ENSE00001768088 000 1 145566973 145567142 + 57 66 47 NA NA NA NA NA TACTCAGCTTTATGTCTATACCTCCCTCAAAACTCCACCATGCTCACCCGAGCAGCATTCAGTAGATGATTCCTGTAGGTGGAGATGATCTCTTCATGGTTCTTCTGGGAATCCTGGGAATGAACATCAATGGGAAGTCACATGTCCACCCTCAGTCACCCAAGCATGAG 145867943 145868113 NA NA NA NA NA NA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA natural 72 49 0.9498826 0.9337038 0.9417932 2908 2431 0.9473282 0.932916 0.9401221 0.9498826 0.9337038 0.9473282 0.932916 0 0 0 0 0.9417932 0.9401221 0 0 0 FALSE FALSE NA NA NA NA NA ANKRD35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA ENSG00000198483 NA NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00001768088_001 ENSE00001768088 001 1 145566973 145567142 + 57 66 47 G A 145566984 3298 12 TACTCAGCTTTATGTCTATACCTCCCTCAAAACTCCACCATGCTCACCCGAGCAGCATTCAGTAGATGATTCCTGTAGGTGGAGATGATCTCTTCATGGTTCTTCTGGGAATCCTGGGAATGAACATCAATGGGAAGTCACATGTCCACCCTCAGTCATCCAAGCATGAG 145867943 145868113 145868101 145868102 145868102 upstr_intron -46 -0.7894737 CTCATGCTTGGATGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 125 418 0.9373635 0.7852774 0.8613204 0.9498826 0.9337038 0.9473282 0.932916 NA NA -0.009964701 -0.1476387 0.9417932 0.9401221 NA -0.07880168 NA FALSE NA 0 0.4 . intron_variant MODIFIER ANKRD35 HGNC 26323 ENST00000355594 11/13 1 NA GGT G 0.0001235 1:145868100 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA intron_variant 0.121748 0.15872 0.02617 0.078448 0.5087908 0.0469152 4.676361e-13 FALSE 8.93532e-05 ENSE00001768088_002 ENSE00001768088 002 1 145566973 145567142 + 57 66 47 T G 145566989 3299 17 TACTCAGCTTTATGTCTATACCTCCCTCAAAACTCCACCATGCTCACCCGAGCAGCATTCAGTAGATGATTCCTGTAGGTGGAGATGATCTCTTCATGGTTCTTCTGGGAATCCTGGGAATGAACATCAATGGGAAGTCACATGTCCACCCTCCGTCACCCAAGCATGAG 145867943 145868113 145868096 145868097 145868097 upstr_intron -41 -0.7017544 CTCATGCTTGGGTGACGGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant 16 10 0.85 0.85 0.85 33 93 0.9987462 0.9626122 0.9806792 0.9498826 0.9337038 0.9473282 0.932916 -0.09988257 -0.08370379 0.05141804 0.02969616 0.9417932 0.9401221 -0.09179318 0.0405571 0.1323503 FALSE FALSE 0.001 -2.288 . intron_variant MODIFIER ANKRD35 HGNC 26323 ENST00000355594 11/13 1 NA CTG T 8.236e-06 1:145868095 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA intron_variant 0.357237 0.19354 0.02625 0.078448 0.7154848 0.0469152 4.676361e-13 FALSE 4.06111e-06 ENSE00001768088_003 ENSE00001768088 003 1 145566973 145567142 + 57 66 47 T G 145567008 3300 36 TACTCAGCTTTATGTCTATACCTCCCTCAAAACTCCACCATGCTCACCCGAGCAGCATTCAGTAGATGATTCCTGTAGGTGGAGATGATCTCTTCATGGTTCTTCTGGGAATCCTGGGAATGAACATCAATGGGCAGTCACATGTCCACCCTCAGTCACCCAAGCATGAG 145867943 145868113 145868077 145868078 145868078 upstr_intron -22 -0.3684211 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTGCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 392 50 0.8673579 1 0.933679 0.9498826 0.9337038 0.9473282 0.932916 NA NA -0.07997026 0.06708395 0.9417932 0.9401221 NA -0.006443153 NA FALSE NA 0 0.331 rs45624331 intron_variant MODIFIER ANKRD35 HGNC 26323 ENST00000355594 11/13 rs45624331 1 G:0.0112 G:0 G:0.0231 NA G:0 G:0.0288 G:0.0112 G:0.0084 G:0.0406 TTC T 0.032 1:145868076 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA intron_variant 0.111418 0.19193 0.09807 0.06567 0.6799595 0.147421 4.676361e-13 FALSE 0.0303985 ENSE00001768088_004 ENSE00001768088 004 1 145566973 145567142 + 57 66 47 A G 145567012 3301 40 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCGTTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA 145867943 145868113 145868073 145868074 145868074 upstr_intron -18 -0.2982456 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCGTTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 204 112 0.9683759 0.9522817 0.9603288 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.02104774 0.01936568 0.9417932 0.9401221 NA 0.02020671 NA FALSE NA 0 -0.024 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:145868072 ANKRD35 HGNC Symbol protein_coding 19306 NA NA intron_variant -0.171896 0.18516 0.03817 0.06567 0.6885906 0.147421 4.676361e-13 FALSE 0.000418254 ENSE00001768088_005 ENSE00001768088 005 1 145566973 145567142 + 57 66 47 A C 145567012 3302 40 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCCTTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA 145867943 145868113 145868073 145868074 145868074 upstr_intron -18 -0.2982456 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCCTTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 235 139 0.9962634 0.9700813 0.9831724 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.04893523 0.03716526 0.9417932 0.9401221 NA 0.04305025 NA FALSE NA 0 -0.024 NA NA NA ANKRD35 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA ENSG00000198483 NA intron_variant -0.351213 0.1881 0.04547 0.06567 0.6850658 0.147421 4.676361e-13 FALSE 0 ENSE00001768088_007 ENSE00001768088 007 1 145566973 145567142 + 57 66 47 C G 145567036 3304 64 TACTCAGCTTTATGTCTATACCTCCCTCAAAACTCCACCATGCTCACCCGAGCAGCATTCAGTAGATGATTCCTGTAGGTGGAGATGATCTCTTCATGGTTCTTCTCGGAATCCTGGGAATGAACATCAATGGGAAGTCACATGTCCACCCTCAGTCACCCAAGCATGAG 145867943 145868113 145868049 145868050 145868050 exon 7 0.1060606 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCGAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 275 66 0.9816562 0.975669 0.9786626 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.03432803 0.04275294 0.9417932 0.9401221 NA 0.03854049 NA FALSE NA 1 1.701 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 12/14 1 possibly_damaging(0.603) NA CCA C 8.236e-06 1:145868048 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA missense_variant 2.574253 0.9749 0.72955 0.706298 0.8456451 0 4.676361e-13 FALSE NA ENSE00001768088_008 ENSE00001768088 008 1 145566973 145567142 + 57 66 47 A G 145567042 3305 70 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGGACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA 145867943 145868113 145868043 145868044 145868044 exon 13 0.1969697 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGGACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 41 236 0.95 0.9752166 0.9626083 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.002671832 0.04230054 0.9417932 0.9401221 NA 0.02248618 NA FALSE NA 1 2.365 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 12/14 1 possibly_damaging(0.713) NA GAA A 3.295e-05 1:145868042 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA synonymous_variant 3.633823 0.97227 0.7755 0.706298 0.9917212 0 4.676361e-13 FALSE 2.43637e-05 ENSE00001768088_009 ENSE00001768088 009 1 145566973 145567142 + 57 66 47 A C 145567046 3306 74 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCCTGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA 145867943 145868113 145868039 145868040 145868040 exon 17 0.2575758 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCCTGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 56 836 0.9765388 0.9683012 0.97242 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.02921065 0.03538511 0.9417932 0.9401221 NA 0.03229788 NA FALSE NA 0.996 3.475 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 12/14 1 possibly_damaging(0.841) NA CAT A 8.236e-06 1:145868038 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA stop_lost 4.933546 0.97936 0.89424 0.706298 0.9739355 0 4.676361e-13 FALSE 8.12123e-06 ENSE00001768088_010 ENSE00001768088 010 1 145566973 145567142 + 57 66 47 G A 145567051 3307 79 TACTCAGCTTTATGTCTATACCTCCCTCAAAACTCCACCATGCTCACCCGAGCAGCATTCAGTAGATGATTCCTGTAGGTGGAGATGATCTTTTCATGGTTCTTCTGGGAATCCTGGGAATGAACATCAATGGGAAGTCACATGTCCACCCTCAGTCACCCAAGCATGAG 145867943 145868113 145868034 145868035 145868035 exon 22 0.3333333 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAAAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant 43 13 0.85 0.85 0.85 NA NA NA NA NA 0.9498826 0.9337038 0.9473282 0.932916 -0.09988257 -0.08370379 NA NA 0.9417932 0.9401221 -0.09179318 NA NA NA FALSE 1 5.297 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 12/14 1 possibly_damaging(0.791) NA AGA G 1.647e-05 1:145868033 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA synonymous_variant 5.698096 0.9761 0.90461 0.706298 0.9986658 0 4.676361e-13 FALSE 8.12123e-06 ENSE00001768088_011 ENSE00001768088 011 1 145566973 145567142 + 57 66 47 A C 145567052 3308 80 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGCGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA 145867943 145868113 145868033 145868034 145868034 exon 23 0.3484848 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGCGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 45 427 0.9468922 0.9551032 0.9509977 0.9498826 0.9337038 0.9473282 0.932916 NA NA -0.0004359256 0.02218714 0.9417932 0.9401221 NA 0.01087561 NA FALSE NA 1 5.033 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 12/14 1 possibly_damaging(0.791) NA GAG A 8.236e-06 1:145868032 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA missense_variant 5.110546 0.98279 0.93142 0.706298 0.9938937 0 4.676361e-13 FALSE 4.06062e-06 ENSE00001768088_013 ENSE00001768088 013 1 145566973 145567142 + 57 66 47 C T 145567075 3310 103 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATTATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA 145867943 145868113 145868010 145868011 145868011 exon -21 0.6969697 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATTATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 424 190 0.8012295 0.8 0.8006148 0.9498826 0.9337038 0.9473282 0.932916 NA NA -0.1460987 -0.132916 0.9417932 0.9401221 NA -0.1395073 NA FALSE NA 1 2.767 . missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 12/14 COSM3984171 1 benign(0.132) NA TCA C 8.236e-06 1:145868009 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA synonymous_variant 3.426196 0.98446 0.84863 0.706298 0.9973332 0 4.676361e-13 FALSE 4.06062e-06 ENSE00001768088_014 ENSE00001768088 014 1 145566973 145567142 + 57 66 47 A G 145567084 3311 112 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGGATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA 145867943 145868113 145868001 145868002 145868002 exon -12 0.8333333 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGGATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 123 150 0.9962605 1 0.9981302 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.04893229 0.06708395 0.9417932 0.9401221 NA 0.05800812 NA FALSE NA 1 3.287 rs16827032 missense_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 12/14 rs16827032 1 possibly_damaging(0.713) G:0.0148 G:0.0356 G:0.0014 NA G:0.001 G:0.001 G:0.0245 G:0.0329 G:0.0001 GAA A 0.007421 1:145868000 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA synonymous_variant 5.863135 0.97234 0.8137 0.706298 0.9948252 0 4.676361e-13 FALSE 0.00647268 ENSE00001768088_015 ENSE00001768088 015 1 145566973 145567142 + 57 66 47 T C 145567086 3312 114 TACTCAGCTTTATGTCTATACCTCCCTCAAAACTCCACCATGCTCACCCGAGCAGCGTTCAGTAGATGATTCCTGTAGGTGGAGATGATCTCTTCATGGTTCTTCTGGGAATCCTGGGAATGAACATCAATGGGAAGTCACATGTCCACCCTCAGTCACCCAAGCATGAG 145867943 145868113 145867999 145868000 145868000 exon -10 0.8636364 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAACGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 244 116 1 0.9463001 0.97315 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.05267183 0.01338404 0.9417932 0.9401221 NA 0.03302793 NA FALSE NA 1 0.601 . synonymous_variant LOW ANKRD35 HGNC 26323 ENST00000355594 12/14 1 NA ATG T 8.236e-06 1:145867998 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA missense_variant 0.351445 0.9597 0.55564 0.706298 0.6365598 0 4.676361e-13 FALSE 8.1213e-06 ENSE00001768088_017 ENSE00001768088 017 1 145566973 145567142 + 57 66 47 G A 145567094 3314 122 TACTCAGCTTTATGTCTATACCTCCCTCAAAACTCCACCATGCTCACCTGAGCAGCATTCAGTAGATGATTCCTGTAGGTGGAGATGATCTCTTCATGGTTCTTCTGGGAATCCTGGGAATGAACATCAATGGGAAGTCACATGTCCACCCTCAGTCACCCAAGCATGAG 145867943 145868113 145867991 145867992 145867992 exon -2 0.9848485 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCAGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 46 739 1 0.997966 0.998983 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.05267183 0.06504991 0.9417932 0.9401221 NA 0.05886087 NA FALSE NA 0.894 -0.318 . missense_variant&splice_region_variant MODERATE ANKRD35 HGNC 26323 ENST00000355594 12/14 rs377017276 1 benign(0.003) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0002 CGG G 7.413e-05 1:145867990 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA splice_donor_variant 1.810379 0.91138 0.08882 0.706298 0.3190174 0 4.676361e-13 FALSE 5.68496e-05 ENSE00001768088_018 ENSE00001768088 018 1 145566973 145567142 + 57 66 47 A T 145567102 3315 130 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCTTGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA 145867943 145868113 145867983 145867984 145867984 downstr_intron 7 1.152174 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCTTGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant NA NA NA NA NA 251 81 0.9735196 1 0.9867598 0.9498826 0.9337038 0.9473282 0.932916 NA NA 0.02619138 0.06708395 0.9417932 0.9401221 NA 0.04663767 NA FALSE NA 0.001 -0.915 . splice_region_variant&intron_variant LOW ANKRD35 HGNC 26323 ENST00000355594 12/13 1 NA CAT A 8.236e-06 1:145867982 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA intron_variant 0.95665 0.13149 0.02505 0.06567 0.7654163 0.391605 4.676361e-13 FALSE 4.06072e-06 ENSE00001768088_019 ENSE00001768088 019 1 145566973 145567142 + 57 66 47 G A 145567121 3316 149 TACTCAGCTTTATGTCTATACTTCCCTCAAAACTCCACCATGCTCACCCGAGCAGCATTCAGTAGATGATTCCTGTAGGTGGAGATGATCTCTTCATGGTTCTTCTGGGAATCCTGGGAATGAACATCAATGGGAAGTCACATGTCCACCCTCAGTCACCCAAGCATGAG 145867943 145868113 145867964 145867965 145867965 downstr_intron 26 1.565217 CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAAGTATAGACATAAAGCTGAGTA CTCATGCTTGGGTGACTGAGGGTGGACATGTGACTTCCCATTGATGTTCATTCCCAGGATTCCCAGAAGAACCATGAAGAGATCATCTCCACCTACAGGAATCATCTACTGAATGCTGCTCGGGTGAGCATGGTGGAGTTTTGAGGGAGGTATAGACATAAAGCTGAGTA mutant 97 262 0.85 0.85 0.85 NA NA NA NA NA 0.9498826 0.9337038 0.9473282 0.932916 -0.09988257 -0.08370379 NA NA 0.9417932 0.9401221 -0.09179318 NA NA NA FALSE 0 0.094 . intron_variant MODIFIER ANKRD35 HGNC 26323 ENST00000355594 12/13 1 NA AGG G 8.236e-06 1:145867963 ANKRD35 HGNC Symbol protein_coding 19306 ENSG00000198483 NA intron_variant -0.101473 0.16359 0.05416 0.06567 0.3669328 0.0528407 4.676361e-13 FALSE 2.03044e-05 ENSE00001768118_000 ENSE00001768118 000 2 27535019 27535188 - 63 33 74 NA NA NA NA NA TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 NA NA NA NA NA NA TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT natural 53 30 0.9742097 0.9684886 0.9713491 916 884 0.9623893 0.8687559 0.9155726 0.9742097 0.9684886 0.9623893 0.8687559 0 0 0 0 0.9713491 0.9155726 0 0 0 FALSE FALSE NA NA NA NA NA MPV17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPV17 NA NA NA ENSG00000115204 ENSE00003478166 NA NA NA NA NA NA NA 1.102868e-08 FALSE NA ENSE00001768118_001 ENSE00001768118 001 2 27535019 27535188 - 63 33 74 T C 27535039 448 150 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAGGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312170 27312171 27312171 downstr_intron 43 1.693548 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAGGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 140 23 0.9865967 0.8 0.8932984 0.9742097 0.9684886 0.9623893 0.8687559 NA NA 0.02420746 -0.06875587 0.9713491 0.9155726 NA -0.0222742 NA FALSE NA 0.014 0.172 . intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 4/5 1 NA CTT T,C 3.295e-05 2:27312171 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.850558 0.1891 0.13619 0.322412 0.8549368 0.180349 1.102868e-08 FALSE 1.62435e-05 ENSE00001768118_002 ENSE00001768118 002 2 27535019 27535188 - 63 33 74 G A 27535053 449 136 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTTTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312184 27312185 27312185 downstr_intron 29 1.467742 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTTTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 1861 322 0.9371265 1 0.9685633 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.02526275 0.1312441 0.9713491 0.9155726 NA 0.05299069 NA FALSE NA 0 -0.8 . intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 4/5 1 NA AGA G,A 1.647e-05 2:27312185 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.87151 0.21228 0.07449 0.322412 0.7769308 0.180349 1.102868e-08 FALSE 8.12137e-06 ENSE00001768118_003 ENSE00001768118 003 2 27535019 27535188 - 63 33 74 A G 27535054 450 135 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTCCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312185 27312186 27312186 downstr_intron 28 1.451613 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTCCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 210 16 0.9710463 1 0.9855232 0.9742097 0.9684886 0.9623893 0.8687559 NA NA 0.008657029 0.1312441 0.9713491 0.9155726 NA 0.06995058 NA FALSE NA 0 0.146 . intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 4/5 rs575516637 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GAA A,G 8.236e-06 2:27312186 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.619013 0.1893 0.04271 0.322412 0.8312858 0.182001 1.102868e-08 FALSE 8.12143e-06 ENSE00001768118_006 ENSE00001768118 006 2 27535019 27535188 - 63 33 74 C G 27535075 453 114 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGACCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312206 27312207 27312207 downstr_intron 7 1.112903 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGACCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 26 356 1 1 1 0.9742097 0.9684886 0.9623893 0.8687559 NA NA 0.03761072 0.1312441 0.9713491 0.9155726 NA 0.08442743 NA FALSE NA 0.309 0.397 . splice_region_variant&intron_variant LOW MPV17 HGNC 7224 ENST00000405076 4/5 1 NA GCT C,G 8.236e-06 2:27312207 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 splice_region_variant 1.700351 0.63351 0.46331 0.322412 0.8932638 0.347047 1.102868e-08 FALSE 8.12123e-06 ENSE00001768118_009 ENSE00001768118 009 2 27535019 27535188 - 63 33 74 G A 27535085 456 104 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTATTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312216 27312217 27312217 exon -4 0.9090909 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTATTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 173 100 0.8667717 0.9587471 0.9127594 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.09561756 0.08999123 0.9713491 0.9155726 NA -0.002813162 NA FALSE NA 1 2.491 . synonymous_variant LOW MPV17 HGNC 7224 ENST00000405076 4/6 1 NA AGT G,A 8.236e-06 2:27312217 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 synonymous_variant 0.497808 0.94695 0.88625 0.732398 0.9062209 0 1.102868e-08 FALSE 4.06062e-06 ENSE00001768118_012 ENSE00001768118 012 2 27535019 27535188 - 63 33 74 G A 27535094 459 95 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATTACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312225 27312226 27312226 exon -13 0.6363636 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATTACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 19 105 1 0.8 0.9 0.9742097 0.9684886 0.9623893 0.8687559 NA NA 0.03761072 -0.06875587 0.9713491 0.9155726 NA -0.01557257 NA FALSE NA 1 3.749 . synonymous_variant LOW MPV17 HGNC 7224 ENST00000405076 4/6 1 NA TGA G,A 8.236e-06 2:27312226 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 synonymous_variant 1.630636 0.94695 0.89456 0.732398 0.9033921 0 1.102868e-08 FALSE 1.21821e-05 ENSE00001768118_014 ENSE00001768118 014 2 27535019 27535188 - 63 33 74 G C 27535117 461 72 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCGAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312248 27312249 27312249 upstr_intron -3 -0.02702703 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCGAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 189 5942 0.02432015 0.008972402 0.01664628 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.9380691 -0.8597835 0.9713491 0.9155726 NA -0.8989263 NA TRUE NA 0.989 1.435 . splice_region_variant&intron_variant LOW MPV17 HGNC 7224 ENST00000405076 3/5 1 NA TGG G,C 8.236e-06 2:27312249 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 splice_region_variant 1.366216 0.87611 0.85731 0.163922 0.8223082 0.484876 1.102868e-08 FALSE 4.06075e-06 ENSE00001768118_016 ENSE00001768118 016 2 27535019 27535188 - 63 33 74 C T 27535135 463 54 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTATTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312266 27312267 27312267 upstr_intron -21 -0.2702703 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTATTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 49 235 1 1 1 0.9742097 0.9684886 0.9623893 0.8687559 NA NA 0.03761072 0.1312441 0.9713491 0.9155726 NA 0.08442743 NA FALSE NA 0 -0.291 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:27312267 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 1.397646 0.26092 0.09039 0.163922 0.7686186 0.261201 1.102868e-08 FALSE 4.06124e-06 ENSE00001768118_017 ENSE00001768118 017 2 27535019 27535188 - 63 33 74 C A 27535135 464 54 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTTTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312266 27312267 27312267 upstr_intron -21 -0.2702703 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTTTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 99 28 0.9001088 1 0.9500544 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.06228044 0.1312441 0.9713491 0.9155726 NA 0.03448185 NA FALSE NA 0 -0.291 NA NA NA MPV17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPV17 NA NA NA ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 1.580013 0.23709 0.07385 0.163922 0.8210341 0.261201 1.102868e-08 FALSE 4.06124e-06 ENSE00001768118_018 ENSE00001768118 018 2 27535019 27535188 - 63 33 74 A G 27535138 465 51 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAACTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312269 27312270 27312270 upstr_intron -24 -0.3108108 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAACTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 125 314 0.1633108 0.339565 0.2514379 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.7990784 -0.5291908 0.9713491 0.9155726 NA -0.6641346 NA TRUE NA 0 -0.548 . intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 3/5 1 NA AAT A,G 8.236e-06 2:27312270 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.658861 0.16666 0.02471 0.163922 0.7902529 0.271316 1.102868e-08 FALSE 4.06118e-06 ENSE00001768118_019 ENSE00001768118 019 2 27535019 27535188 - 63 33 74 T C 27535139 466 50 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAGTTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312270 27312271 27312271 upstr_intron -25 -0.3243243 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAGTTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 739 1521 0.01146958 0.0002102728 0.005839927 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.9509197 -0.8685456 0.9713491 0.9155726 NA -0.9097326 NA TRUE NA 0.023 1.481 . intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 3/5 1 NA ATT T,C 8.236e-06 2:27312271 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.689356 0.21585 0.10433 0.163922 0.8495979 0.271316 1.102868e-08 FALSE 4.06147e-06 ENSE00001768118_021 ENSE00001768118 021 2 27535019 27535188 - 63 33 74 C T 27535145 468 44 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAATGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312276 27312277 27312277 upstr_intron -31 -0.4054054 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAATGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 184 35 0.9820314 0.9954542 0.9887428 0.9742097 0.9684886 0.9623893 0.8687559 NA NA 0.01964216 0.1266983 0.9713491 0.9155726 NA 0.07317025 NA FALSE NA 0 -0.676 . intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 3/5 rs559110607 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACT C,T 8.236e-06 2:27312277 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.549092 0.19593 0.12714 0.163922 0.6484914 0.0796048 1.102868e-08 FALSE 4.06237e-06 ENSE00001768118_022 ENSE00001768118 022 2 27535019 27535188 - 63 33 74 T C 27535146 469 43 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAGGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312277 27312278 27312278 upstr_intron -32 -0.4189189 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAGGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 72 126 0.9917129 1 0.9958564 0.9742097 0.9684886 0.9623893 0.8687559 NA NA 0.02932359 0.1312441 0.9713491 0.9155726 NA 0.08028386 NA FALSE NA 0 -3.866 rs184194542 intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 3/5 rs184194542 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 CTT T,C 8.236e-06 2:27312278 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant -0.031751 0.1862 0.02493 0.163922 0.7477398 0.123349 1.102868e-08 FALSE 4.0621e-06 ENSE00001768118_023 ENSE00001768118 023 2 27535019 27535188 - 63 33 74 T A 27535147 470 42 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCTAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312278 27312279 27312279 upstr_intron -33 -0.4324324 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCTAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 202 242 0.7447496 0.8101692 0.7774594 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.2176397 -0.05858668 0.9713491 0.9155726 NA -0.1381132 NA FALSE NA 0 -0.424 . intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 3/5 1 NA TTG T,A 8.236e-06 2:27312279 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.573267 0.21644 0.08561 0.163922 0.7787594 0.0796048 1.102868e-08 FALSE NA ENSE00001768118_025 ENSE00001768118 025 2 27535019 27535188 - 63 33 74 C G 27535149 472 40 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCCCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312280 27312281 27312281 upstr_intron -35 -0.4594595 TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCCCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 78 93 0.9397734 1 0.9698867 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.0226159 0.1312441 0.9713491 0.9155726 NA 0.05431412 NA FALSE NA 0 -0.598 NA NA NA MPV17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:27312281 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.422732 0.21354 0.13003 0.163922 0.7151439 0.0796048 1.102868e-08 FALSE 8.12968e-06 ENSE00001768118_027 ENSE00001768118 027 2 27535019 27535188 - 63 33 74 C T 27535162 474 27 TGTGACATTCATACTGGGAAGTGGGAACTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 27312293 27312294 27312294 upstr_intron -48 -0.6351351 TGTGACATTCATACTGGGAAGTGGGAACTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT mutant NA NA NA NA NA 24 41 1 1 1 0.9742097 0.9684886 0.9623893 0.8687559 NA NA 0.03761072 0.1312441 0.9713491 0.9155726 NA 0.08442743 NA FALSE NA 0 0.173 . intron_variant MODIFIER MPV17 HGNC 7224 ENST00000405076 3/5 1 NA GCT C,T 8.236e-06 2:27312294 MPV17 HGNC Symbol protein_coding 16188 ENSG00000115204 ENSE00003478166 non_coding_transcript_exon_variant 0.901402 0.22895 0.16373 0.163922 0.7391633 0.134552 1.102868e-08 FALSE 4.06646e-06 ENSE00001768118_BRK ENSE00001768118 BRK 2 27535019 27535188 - 63 33 74 A,G; T,T NA NA NA TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCTTGATTATCCTGATGCCCTTATCACCAACTACTATCCAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT 27312150 27312320 NA NA NA NA NA NA TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCTTGATTATCCTGATGCCCTTATCACCAACTACTATCCAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT TGTGACATTCATACTGGGAAGTGGGAGCTGCTTGGAGGCGCAAGTGTTAATTTGTTCCTTCTCTGTCTCCCCAGGATTATCCTGATGCCCTTATCACCAACTACTATGTAAGAGCTGACACCTCAACTGCTTGTTCTCCTGCTTCCTTAAGTCTAGAACTGTCCTGGGAT control NA NA NA NA NA 195 691 0 0 0 0.9742097 0.9684886 0.9623893 0.8687559 NA NA -0.9623893 -0.8687559 0.9713491 0.9155726 NA -0.9155726 NA TRUE NA NA NA NA NA NA MPV17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPV17 NA NA NA ENSG00000115204 ENSE00003478166 NA NA NA NA NA NA NA 1.102868e-08 FALSE NA ENSE00001768543_000 ENSE00001768543 000 22 24204250 24204419 + 41 99 30 NA NA NA NA NA GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 NA NA NA NA NA NA GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC natural 264 163 0.984433 0.9918979 0.9881655 1566 4356 0.9307485 0.9954092 0.9630789 0.984433 0.9918979 0.9307485 0.9954092 0 0 0 0 0.9881655 0.9630789 0 0 0 FALSE FALSE NA NA NA NA NA SLC2A11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC2A11 NA NA NA ENSG00000133460 ENSE00003748188 NA NA NA NA NA NA NA 5.459337e-12 FALSE NA ENSE00001768543_001 ENSE00001768543 001 22 24204250 24204419 + 41 99 30 G A 24204260 291 11 GGCTGTTGTTAGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862072 23862073 23862073 upstr_intron -31 -0.7317073 GGCTGTTGTTAGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 382 750 0.9906419 1 0.995321 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.05989346 0.00459075 0.9881655 0.9630789 NA 0.0322421 NA FALSE NA 0 -0.084 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 2/3 1 NA TGG G,A 1.647e-05 22:23862073 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 intron_variant 0.323005 0.12939 0.02384 0.183328 0.7975132 0.109429 5.459337e-12 FALSE 1.22321e-05 ENSE00001768543_003 ENSE00001768543 003 22 24204250 24204419 + 41 99 30 C T 24204278 293 29 GGCTGTTGTTGGTCACTCTGTGTTCTCTTCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862090 23862091 23862091 upstr_intron -13 -0.2926829 GGCTGTTGTTGGTCACTCTGTGTTCTCTTCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 26 1795 1 0.9953523 0.9976762 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06925154 -5.690038e-05 0.9881655 0.9630789 NA 0.03459732 NA FALSE NA 0 -1.04 rs143726495 intron_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 2/3 rs143726495 1 T:0.0044 T:0 T:0 NA T:0.006 T:0 T:0.0164 TCC C,T 0.002183 22:23862091 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 intron_variant 0.173466 0.14098 0.0176 0 0.7918754 0.109429 5.459337e-12 FALSE 0.00185689 ENSE00001768543_004 ENSE00001768543 004 22 24204250 24204419 + 41 99 30 C G 24204281 294 32 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTGTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862093 23862094 23862094 upstr_intron -10 -0.2195122 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTGTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 91 139 1 0.9904218 0.9952109 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06925154 -0.004987456 0.9881655 0.9630789 NA 0.03213204 NA FALSE NA 0 -0.496 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 2/3 1 NA TCT C,G 1.647e-05 22:23862094 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 intron_variant 0.538397 0.20724 0.0242 0 0.8022792 0.109429 5.459337e-12 FALSE 8.12513e-06 ENSE00001768543_005 ENSE00001768543 005 22 24204250 24204419 + 41 99 30 C T 24204286 295 37 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCTTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862098 23862099 23862099 upstr_intron -5 -0.09756098 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCTTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 380 461 0.9981442 0.9949758 0.99656 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06739579 -0.0004334341 0.9881655 0.9630789 NA 0.03348118 NA FALSE NA 0.879 0.463 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC2A11 HGNC 14239 ENST00000440493 2/3 1 NA CCT C,T 8.236e-05 22:23862099 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 splice_region_variant 1.5616 0.4258 0.05187 0 0.8128495 0.304937 5.459337e-12 FALSE 6.49978e-05 ENSE00001768543_006 ENSE00001768543 006 22 24204250 24204419 + 41 99 30 C T 24204288 296 39 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTTAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862100 23862101 23862101 upstr_intron -3 -0.04878049 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTTAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 208 1158 0.9980045 0.9983243 0.9981644 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06725604 0.00291503 0.9881655 0.9630789 NA 0.03508554 NA FALSE NA 0.919 0.769 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC2A11 HGNC 14239 ENST00000440493 2/3 1 NA TCA C,T 1.647e-05 22:23862101 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 splice_region_variant 1.444107 0.35408 0.13361 0 0.8319948 0.318785 5.459337e-12 FALSE 4.06184e-06 ENSE00001768543_008 ENSE00001768543 008 22 24204250 24204419 + 41 99 30 C G 24204305 298 56 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATGCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862117 23862118 23862118 exon 15 0.1515152 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATGCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 483 118 0.9905455 0.9863438 0.9884447 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.05979702 -0.009065416 0.9881655 0.9630789 NA 0.0253658 NA FALSE NA 0.966 0.589 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 rs372619565 1 NA G:0 G:0.0001 TCC C,G 8.236e-06 22:23862118 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 missense_variant 2.243871 0.83909 0.2876 0.743674 0.9905671 0 5.459337e-12 FALSE 4.06105e-06 ENSE00001768543_009 ENSE00001768543 009 22 24204250 24204419 + 41 99 30 T A 24204310 299 61 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCACCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862122 23862123 23862123 exon 20 0.2020202 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCACCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 47 49 1 0.9992195 0.9996098 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06925154 0.003810279 0.9881655 0.9630789 NA 0.03653091 NA FALSE NA 0.591 4.928 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 rs201395239 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CTC T,A 8.236e-06 22:23862123 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 missense_variant 4.914323 0.90633 0.40356 0.743674 0.9820867 0 5.459337e-12 FALSE 4.06085e-06 ENSE00001768543_010 ENSE00001768543 010 22 24204250 24204419 + 41 99 30 C T 24204323 300 74 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGTGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862135 23862136 23862136 exon 33 0.3333333 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGTGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 57 2562 0.9639568 0.9990212 0.981489 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.03320836 0.003611933 0.9881655 0.9630789 NA 0.01841015 NA FALSE NA 1 0.092 rs144569568 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 rs144569568&rs541296839 1 -:0.0006 -:0.0023 -:0 NA &-:0 -:0 &-:0 T:0.0009&-:0.0012 T:0&-:0 GCG C,T 5.767e-05 22:23862136 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 synonymous_variant 2.045622 0.81873 0.02795 0.743674 0.9024666 0 5.459337e-12 FALSE 3.24876e-05 ENSE00001768543_012 ENSE00001768543 012 22 24204250 24204419 + 41 99 30 G A 24204324 302 75 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCACTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862136 23862137 23862137 exon 34 0.3434343 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCACTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 70 112 1 0.9985853 0.9992926 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06925154 0.003176039 0.9881655 0.9630789 NA 0.03621379 NA FALSE NA 1 1.951 NA NA NA SLC2A11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:23862137 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 missense_variant 6.125511 0.89512 0.3031 0.743674 0.9977095 0 5.459337e-12 FALSE 8.12308e-06 ENSE00001768543_013 ENSE00001768543 013 22 24204250 24204419 + 41 99 30 C T 24204328 303 79 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGTCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862140 23862141 23862141 exon 38 0.3838384 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGTCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 300 374 0.99277 0.9927423 0.9927561 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06202157 -0.002666986 0.9881655 0.9630789 NA 0.02967729 NA FALSE NA 1 3.243 rs138480653 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 rs138480653 1 NA T:0 T:0.0001 GCC C,T 8.236e-06 22:23862141 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 missense_variant 4.274579 0.92527 0.3316 0.743674 0.9976199 0 5.459337e-12 FALSE 4.06085e-06 ENSE00001768543_014 ENSE00001768543 014 22 24204250 24204419 + 41 99 30 C T 24204329 304 80 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCTGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862141 23862142 23862142 exon 39 0.3939394 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCTGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 348 218 0.9892074 1 0.9946037 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.05845895 0.00459075 0.9881655 0.9630789 NA 0.03152485 NA FALSE NA 0.999 0.085 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 1 NA CCG C,T 1.647e-05 22:23862142 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 synonymous_variant 2.371821 0.82783 0.0237 0.743674 0.9039162 0 5.459337e-12 FALSE 1.21823e-05 ENSE00001768543_015 ENSE00001768543 015 22 24204250 24204419 + 41 99 30 G A 24204339 305 90 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTAGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862151 23862152 23862152 exon 49 0.4949495 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTAGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 49 196 1 1 1 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06925154 0.00459075 0.9881655 0.9630789 NA 0.03692115 NA FALSE NA 1 5.973 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 1 NA TGG G,A 8.236e-06 22:23862152 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 missense_variant 6.300423 0.92619 0.50385 0.743674 0.9992328 0 5.459337e-12 FALSE NA ENSE00001768543_016 ENSE00001768543 016 22 24204250 24204419 + 41 99 30 A G 24204358 306 109 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTGTAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862170 23862171 23862171 exon -32 0.6868687 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTGTAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 304 531 0.9934585 0.999702 0.9965803 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06271009 0.004292795 0.9881655 0.9630789 NA 0.03350144 NA FALSE NA 1 3.904 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 1 NA TAT A,G 8.236e-06 22:23862171 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 missense_variant 5.591048 0.92207 0.41592 0.743674 0.9978815 0 5.459337e-12 FALSE 8.12348e-06 ENSE00001768543_017 ENSE00001768543 017 22 24204250 24204419 + 41 99 30 C T 24204363 307 114 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACTTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862175 23862176 23862176 exon -27 0.7373737 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACTTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 106 612 1 0.9669535 0.9834767 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06925154 -0.02845577 0.9881655 0.9630789 NA 0.02039788 NA FALSE NA 0.994 1.5 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 1 NA CCT C,T 8.236e-06 22:23862176 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 missense_variant 5.965192 0.92774 0.26184 0.77792 0.9987905 0 5.459337e-12 FALSE 8.12334e-06 ENSE00001768543_019 ENSE00001768543 019 22 24204250 24204419 + 41 99 30 A G 24204372 309 123 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCGTCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862184 23862185 23862185 exon -18 0.8282828 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCGTCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 61 176 1 0.9671839 0.983592 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06925154 -0.02822535 0.9881655 0.9630789 NA 0.0205131 NA FALSE NA 1 3.075 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 1 NA CAT A,G 8.236e-06 22:23862185 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 missense_variant 2.611726 0.89719 0.31462 0.77792 0.9939944 0 5.459337e-12 FALSE 8.12414e-06 ENSE00001768543_BRK ENSE00001768543 BRK 22 24204250 24204419 + 41 99 30 A,G; T,T NA NA NA GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCTTATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGCCATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 NA NA NA NA NA NA GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCTTATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGCCATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC control NA NA NA NA NA 331 149 0.01207075 0.1357158 0.07389326 0.984433 0.9918979 0.9307485 0.9954092 NA NA -0.9186777 -0.8596935 0.9881655 0.9630789 NA -0.8891856 NA TRUE NA NA NA NA NA NA SLC2A11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC2A11 NA NA NA ENSG00000133460 ENSE00003748188 NA NA NA NA NA NA NA 5.459337e-12 FALSE NA ENSE00001768778_000 ENSE00001768778 000 6 33133886 33134055 - 62 36 72 NA NA NA NA NA TTGCCTCCCCGCTCCTCTGAGTCCTGTCCTTCCCCTGCAGTGACCGTCTCTTTCTTGTTCCTCATTTCACAGGGACCTGCTGGCCCCAAAGGAGCCAAAGGAGCCACAGTGAGTGACCCCCTTCAGCTCTGACCTTTGCTCCACCCCCTCTGGACTTGATGATGTCTCTC 33166108 33166278 NA NA NA NA NA NA TTGCCTCCCCGCTCCTCTGAGTCCTGTCCTTCCCCTGCAGTGACCGTCTCTTTCTTGTTCCTCATTTCACAGGGACCTGCTGGCCCCAAAGGAGCCAAAGGAGCCACAGTGAGTGACCCCCTTCAGCTCTGACCTTTGCTCCACCCCCTCTGGACTTGATGATGTCTCTC TTGCCTCCCCGCTCCTCTGAGTCCTGTCCTTCCCCTGCAGTGACCGTCTCTTTCTTGTTCCTCATTTCACAGGGACCTGCTGGCCCCAAAGGAGCCAAAGGAGCCACAGTGAGTGACCCCCTTCAGCTCTGACCTTTGCTCCACCCCCTCTGGACTTGATGATGTCTCTC natural NA NA NA NA NA 325 843 0.7995028 0.9169561 0.8582294 NA NA 0.7995028 0.9169561 NA NA 0 0 NA 0.8582294 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001768778 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001769073_000 ENSE00001769073 000 6 30522308 30522477 - 44 72 54 NA NA NA NA NA CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT 30554530 30554700 NA NA NA NA NA NA CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT natural NA NA NA NA NA 1014 848 0.7105072 0.8449104 0.7777088 NA NA 0.7105072 0.8449104 NA NA 0 0 NA 0.7777088 NA 0 NA FALSE NA NA NA NA NA NA GNL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GNL1 NA NA NA ENSG00000204590 ENSE00001769073 NA NA NA NA NA NA NA 0.9999306 TRUE NA ENSE00001769073_002 ENSE00001769073 002 6 30522308 30522477 - 44 72 54 C A 30522332 466 146 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGTTGGGCAAGGAGGAGGGAGAAAGGT 30554530 30554700 30554554 30554555 30554555 downstr_intron 20 1.465116 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGTTGGGCAAGGAGGAGGGAGAAAGGT CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT mutant NA NA NA NA NA 97 226 0.003110696 0.001418364 0.00226453 NA NA 0.7105072 0.8449104 NA NA -0.7073966 -0.8434921 NA 0.7777088 NA -0.7754443 NA TRUE NA 0 -0.806 . intron_variant MODIFIER GNL1 HGNC 4413 ENST00000433809 4/4 1 NA ACC C,A 8.434e-06 6:30554555 GNL1 HGNC Symbol protein_coding 15797 ENSG00000204590 ENSE00001769073 intron_variant 0.523314 0.21708 0.16727 0.298561 0.5797603 0.100372 0.9999306 TRUE NA ENSE00001769073_004 ENSE00001769073 004 6 30522308 30522477 - 44 72 54 A T 30522337 468 141 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGAAAAGGGTGGGCAAGGAGGAGGGAGAAAGGT 30554530 30554700 30554559 30554560 30554560 downstr_intron 15 1.348837 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGAAAAGGGTGGGCAAGGAGGAGGGAGAAAGGT CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT mutant NA NA NA NA NA 15 68 0.8 0.8 0.8 NA NA 0.7105072 0.8449104 NA NA 0.08949275 -0.04491042 NA 0.7777088 NA 0.02229117 NA FALSE NA 0 -0.017 . intron_variant MODIFIER GNL1 HGNC 4413 ENST00000433809 4/4 rs368255123 1 NA T:0.0003 T:0.0006 TAT A,T 5.057e-05 6:30554560 GNL1 HGNC Symbol protein_coding 15797 ENSG00000204590 ENSE00001769073 intron_variant 0.177058 0.2 0.12955 0.298561 0.7334394 0.0832085 0.9999306 TRUE 7.04891e-05 ENSE00001769073_005 ENSE00001769073 005 6 30522308 30522477 - 44 72 54 T A 30522338 469 140 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGTTAAGGGTGGGCAAGGAGGAGGGAGAAAGGT 30554530 30554700 30554560 30554561 30554561 downstr_intron 14 1.325581 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGTTAAGGGTGGGCAAGGAGGAGGGAGAAAGGT CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT mutant NA NA NA NA NA 301 968 0.8 0.7489306 0.7744653 NA NA 0.7105072 0.8449104 NA NA 0.08949275 -0.09597986 NA 0.7777088 NA -0.003243552 NA FALSE NA 0 -0.998 . intron_variant MODIFIER GNL1 HGNC 4413 ENST00000433809 4/4 1 NA ATC T,A 8.429e-06 6:30554561 GNL1 HGNC Symbol protein_coding 15797 ENSG00000204590 ENSE00001769073 intron_variant 0.411163 0.20857 0.04393 0.298561 0.6468683 0.0832085 0.9999306 TRUE 4.14662e-06 ENSE00001769073_007 ENSE00001769073 007 6 30522308 30522477 - 44 72 54 C T 30522376 471 102 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTACTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT 30554530 30554700 30554598 30554599 30554599 exon -25 0.6666667 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTACTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT mutant NA NA NA NA NA 30 213 0.01020579 0.001505175 0.005855484 NA NA 0.7105072 0.8449104 NA NA -0.7003015 -0.8434052 NA 0.7777088 NA -0.7718533 NA TRUE NA 0.998 0.604 . synonymous_variant LOW GNL1 HGNC 4413 ENST00000433809 4/5 rs559481592 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCA C,T 2.521e-05 6:30554599 GNL1 HGNC Symbol protein_coding 15797 ENSG00000204590 ENSE00001769073 synonymous_variant 1.182153 0.93019 0.81149 0.722319 0.7820997 0 0.9999306 TRUE 2.48731e-05 ENSE00001769073_010 ENSE00001769073 010 6 30522308 30522477 - 44 72 54 C T 30522394 474 84 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAAATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT 30554530 30554700 30554616 30554617 30554617 exon 30 0.4166667 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAAATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT mutant NA NA NA NA NA 30 120 0 0 0 NA NA 0.7105072 0.8449104 NA NA -0.7105072 -0.8449104 NA 0.7777088 NA -0.7777088 NA TRUE NA 1 1.783 . synonymous_variant LOW GNL1 HGNC 4413 ENST00000433809 4/5 1 NA TCT C,T 8.395e-06 6:30554617 GNL1 HGNC Symbol protein_coding 15797 ENSG00000204590 ENSE00001769073 synonymous_variant 1.321775 0.95194 0.87175 0.722319 0.7951927 0 0.9999306 TRUE 4.14449e-06 ENSE00001769073_012 ENSE00001769073 012 6 30522308 30522477 - 44 72 54 G A 30522431 476 47 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTTTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT 30554530 30554700 30554653 30554654 30554654 upstr_intron -8 -0.1296296 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTTTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT mutant NA NA NA NA NA 199 78 0.8096734 0.8870712 0.8483723 NA NA 0.7105072 0.8449104 NA NA 0.09916614 0.04216076 NA 0.7777088 NA 0.07066345 NA FALSE NA 0 -0.452 . splice_region_variant&intron_variant LOW GNL1 HGNC 4413 ENST00000433809 3/4 1 NA AGA G,A 8.389e-06 6:30554654 GNL1 HGNC Symbol protein_coding 15797 ENSG00000204590 ENSE00001769073 splice_region_variant 0.784316 0.25484 0.11676 0.078958 0.7275013 0.358533 0.9999306 TRUE 8.28823e-06 ENSE00001769073_014 ENSE00001769073 014 6 30522308 30522477 - 44 72 54 C T 30522439 478 39 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTAATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT 30554530 30554700 30554661 30554662 30554662 upstr_intron -16 -0.2777778 CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTAATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT CAGGCTGGAGAGGGACTCTGTTTTCAGTTTCTCTTCCTGATCCTGTCTTTTTAGACATGGAGGCAGCTGTGGCGGGTGTTAGAGATGTCTGACATCGTCCTGCTTATCACTGATATCCGACATCCAGTGAGTACTAGGGATAAGGGTGGGCAAGGAGGAGGGAGAAAGGT mutant NA NA NA NA NA 116 48 0.8 0.8 0.8 NA NA 0.7105072 0.8449104 NA NA 0.08949275 -0.04491042 NA 0.7777088 NA 0.02229117 NA FALSE NA 0 -0.45 . intron_variant MODIFIER GNL1 HGNC 4413 ENST00000433809 3/4 1 NA TCA C,T 8.385e-06 6:30554662 GNL1 HGNC Symbol protein_coding 15797 ENSG00000204590 ENSE00001769073 intron_variant 0.775718 0.19889 0.12575 0.078958 0.7272155 0.214042 0.9999306 TRUE 4.14401e-06 ENSE00001770705_000 ENSE00001770705 000 1 16388932 16389101 - 62 36 72 NA NA NA NA NA CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 NA NA NA NA NA NA CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC natural 222 475 0.8450461 0.85 0.847523 84 410 0.9075695 0.8735563 0.8905629 0.8450461 0.85 0.9075695 0.8735563 0 0 0 0 0.847523 0.8905629 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM131C NA NA NA ENSG00000185519 ENSE00003685673 NA NA NA NA NA NA NA 0.2769244 FALSE NA ENSE00001770705_001 ENSE00001770705 001 1 16388932 16389101 - 62 36 72 C A 16388944 385 158 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACTGCCCCTCCATCC 16062436 16062606 16062448 16062449 16062449 downstr_intron 50 1.819672 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACTGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant NA NA NA NA NA 377 168 0.8517361 0.8 0.8258681 0.8450461 0.85 0.9075695 0.8735563 NA NA -0.05583336 -0.07355635 0.847523 0.8905629 NA -0.06469485 NA FALSE NA 0 -1.993 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:16062449 FAM131C HGNC Symbol protein_coding 15863 ENSG00000185519 ENSE00003685673 intron_variant -0.059031 0.11497 0.00312 0.056701 0.4302647 0.100883 0.2769244 FALSE 0.000215846 ENSE00001770705_002 ENSE00001770705 002 1 16388932 16389101 - 62 36 72 C T 16388944 386 158 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACAGCCCCTCCATCC 16062436 16062606 16062448 16062449 16062449 downstr_intron 50 1.819672 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACAGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant 49 86 0.85 0.85 0.85 NA NA NA NA NA 0.8450461 0.85 0.9075695 0.8735563 0.004953915 0 NA NA 0.847523 0.8905629 0.002476957 NA NA NA FALSE 0 -1.993 NA NA NA FAM131C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM131C NA NA NA ENSG00000185519 ENSE00003685673 intron_variant -0.078245 0.131 0.02172 0.056701 0.3414393 0.100883 0.2769244 FALSE 7.19488e-05 ENSE00001770705_004 ENSE00001770705 004 1 16388932 16389101 - 62 36 72 T C 16388949 388 153 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACGCCACGGCCCCTCCATCC 16062436 16062606 16062453 16062454 16062454 downstr_intron 45 1.737705 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACGCCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant 15 27 0.85 0.85 0.85 19 121 1 0.912459 0.9562295 0.8450461 0.85 0.9075695 0.8735563 0.004953915 1.110223e-16 0.09243049 0.03890265 0.847523 0.8905629 0.002476957 0.06566657 0.06318962 FALSE FALSE 0 -1.648 rs28393567 intron_variant&non_coding_transcript_variant MODIFIER FAM131C HGNC 26717 ENST00000494078 2/5 rs28393567 1 C:0.0224 C:0.0809 C:0.0072 NA C:0 C:0 C:0 C:0.0622 C:0.0007 GTG T,C 0.004594 1:16062454 FAM131C HGNC Symbol protein_coding 15863 ENSG00000185519 ENSE00003685673 intron_variant 0.081102 0.13498 0.01188 0.056701 0.5794515 0.100883 0.2769244 FALSE 0.00453912 ENSE00001770705_005 ENSE00001770705 005 1 16388932 16389101 - 62 36 72 C A 16388962 389 140 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCTGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 16062466 16062467 16062467 downstr_intron 32 1.52459 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCTGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant 25 69 0.85 0.8955672 0.8727836 NA NA NA NA NA 0.8450461 0.85 0.9075695 0.8735563 0.004953915 0.0455672 NA NA 0.847523 0.8905629 0.02526056 NA NA NA FALSE 0.718 0.135 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:16062467 FAM131C HGNC Symbol protein_coding 15863 ENSG00000185519 ENSE00003685673 intron_variant 0.028265 0.13781 0.09931 0.056701 0.7337763 0.0444258 0.2769244 FALSE 5.10527e-06 ENSE00001770705_006 ENSE00001770705 006 1 16388932 16389101 - 62 36 72 C T 16388962 390 140 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCAGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 16062466 16062467 16062467 downstr_intron 32 1.52459 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCAGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant NA NA NA NA NA 525 338 0.8532912 0.8769335 0.8651124 0.8450461 0.85 0.9075695 0.8735563 NA NA -0.0542783 0.003377165 0.847523 0.8905629 NA -0.02545057 NA FALSE NA 0.718 0.135 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM131C NA NA NA ENSG00000185519 ENSE00003685673 intron_variant 0.040967 0.10481 0.00342 0.056701 0.7610147 0.0444258 0.2769244 FALSE 2.55264e-05 ENSE00001770705_010 ENSE00001770705 010 1 16388932 16389101 - 62 36 72 G T 16389027 394 75 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGAAAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 16062531 16062532 16062532 exon 3 0.08333333 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGAAAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant 56 168 0.9267406 0.9129764 0.9198585 NA NA NA NA NA 0.8450461 0.85 0.9075695 0.8735563 0.0816945 0.06297637 NA NA 0.847523 0.8905629 0.07233543 NA NA NA FALSE 1 2.236 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:16062532 FAM131C HGNC Symbol protein_coding 15863 ENSG00000185519 ENSE00003685673 missense_variant 2.24883 0.96074 0.72401 0.516011 0.9897369 0 0.2769244 FALSE 7.04325e-05 ENSE00001770705_011 ENSE00001770705 011 1 16388932 16389101 - 62 36 72 G C 16389027 395 75 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGAGAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 16062531 16062532 16062532 exon 3 0.08333333 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGAGAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant 67 24 0 0 0 NA NA NA NA NA 0.8450461 0.85 0.9075695 0.8735563 -0.8450461 -0.85 NA NA 0.847523 0.8905629 -0.847523 NA NA NA TRUE 1 2.236 NA NA NA FAM131C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM131C NA NA NA ENSG00000185519 ENSE00003685673 missense_variant 2.122366 0.96691 0.85712 0.516011 0.9881275 0 0.2769244 FALSE 0.000113776 ENSE00001770705_012 ENSE00001770705 012 1 16388932 16389101 - 62 36 72 A G 16389035 396 67 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGCTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 16062539 16062540 16062540 upstr_intron -6 -0.06944444 CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGCTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant NA NA NA NA NA 396 65 0.0624646 0.1281428 0.09530372 0.8450461 0.85 0.9075695 0.8735563 NA NA -0.8451049 -0.7454135 0.847523 0.8905629 NA -0.7952592 NA TRUE NA 0 1.037 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW FAM131C HGNC 26717 ENST00000494078 1/5 1 NA AAC A,G 8.372e-06 1:16062540 FAM131C HGNC Symbol protein_coding 15863 ENSG00000185519 ENSE00003685673 splice_region_variant 1.06518 0.20171 0.04366 0.056701 0.711555 0.331926 0.2769244 FALSE NA ENSE00001770705_013 ENSE00001770705 013 1 16388932 16389101 - 62 36 72 C T 16389070 397 32 CCCCAGGACTCGGGCCATCTGCTGGCACAGCATGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 16062574 16062575 16062575 upstr_intron -41 -0.5555556 CCCCAGGACTCGGGCCATCTGCTGGCACAGCATGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant 153 334 0.8630931 0.85 0.8565465 131 42 0.9528548 0.9128674 0.9328611 0.8450461 0.85 0.9075695 0.8735563 0.01804698 0 0.04528525 0.03931105 0.847523 0.8905629 0.00902349 0.04229815 0.03327466 FALSE FALSE 0 -0.509 . intron_variant&non_coding_transcript_variant MODIFIER FAM131C HGNC 26717 ENST00000494078 1/5 1 NA ACG C,T 8.446e-06 1:16062575 FAM131C HGNC Symbol protein_coding 15863 ENSG00000185519 ENSE00003685673 intron_variant -0.40448 0.13558 0.02694 0.056701 0.4324091 0.125009 0.2769244 FALSE 6.46237e-05 ENSE00001770705_015 ENSE00001770705 015 1 16388932 16389101 - 62 36 72 A G 16389079 399 23 CCCCAGGACTCGGGCCATCTGCCGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 16062583 16062584 16062584 upstr_intron -50 -0.6805556 CCCCAGGACTCGGGCCATCTGCCGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC mutant NA NA NA NA NA 136 171 0.8452447 0.8 0.8226224 0.8450461 0.85 0.9075695 0.8735563 NA NA -0.06232479 -0.07355635 0.847523 0.8905629 NA -0.06794057 NA FALSE NA 0 -2.125 . intron_variant&non_coding_transcript_variant MODIFIER FAM131C HGNC 26717 ENST00000494078 1/5 rs376472702 1 NA CAG A,G 0.0024 1:16062584 FAM131C HGNC Symbol protein_coding 15863 ENSG00000185519 ENSE00003685673 intron_variant -0.812642 0.04327 0.00848 0.056701 0.169323 0.125009 0.2769244 FALSE NA ENSE00001770705_BRK ENSE00001770705 BRK 1 16388932 16389101 - 62 36 72 A,G; T,T NA NA NA CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTTTGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGCCCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC 16062436 16062606 NA NA NA NA NA NA CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTTTGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGCCCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC CCCCAGGACTCGGGCCATCTGCTGGCACAGCGTGCCAGGCCCTGCCTGATCCTCTCTCTCCTCTTGTTTTAGGACAAACAGATGGATTTCTGTTGGGATCCTTGGCAGGTCAGTGCACTTGTGTGTCCCCATTCTAGCCGGCCCCAGCTGACACCACGGCCCCTCCATCC control NA NA NA NA NA 27 289 0 0 0 0.8450461 0.85 0.9075695 0.8735563 NA NA -0.9075695 -0.8735563 0.847523 0.8905629 NA -0.8905629 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003685673 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001771057_000 ENSE00001771057 000 10 73270645 73270814 + 66 48 56 NA NA NA NA NA AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 NA NA NA NA NA NA AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC natural NA NA NA NA NA 643 706 0.9454749 0.8975113 0.9214931 NA NA 0.9454749 0.8975113 NA NA 0 0 NA 0.9214931 NA 0 NA FALSE NA NA NA NA NA NA CDH23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDH23 NA NA NA ENSG00000107736 ENSE00003384567 NA NA NA NA NA NA NA 0.05069296 FALSE NA ENSE00001771459_000 ENSE00001771459 000 20 49434694 49434863 + 54 72 44 NA NA NA NA NA GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 NA NA NA NA NA NA GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC natural NA NA NA NA NA 252 163 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA BCAS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCAS4 NA NA NA ENSG00000124243 ENSE00003528368 NA NA NA NA NA NA NA 0.04663932 FALSE NA ENSE00001771459_002 ENSE00001771459 002 20 49434694 49434863 + 54 72 44 A G 49434732 1654 39 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATGTCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818194 50818195 50818195 upstr_intron -16 -0.2777778 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATGTCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 154 688 1 0.9988299 0.9994149 NA NA 1 1 NA NA 0 -0.001170144 NA 1 NA -0.0005850722 NA FALSE NA 0 -3.616 . intron_variant MODIFIER BCAS4 HGNC 14367 ENST00000358791 1/5 rs570332652 1 NA TAT A,G 8.236e-06 20:50818195 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 intron_variant 1.066792 0.21451 0.00769 0.279481 0.5916096 0.248243 0.04663932 FALSE 2.84921e-05 ENSE00001771459_003 ENSE00001771459 003 20 49434694 49434863 + 54 72 44 C T 49434734 1655 41 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATTGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818196 50818197 50818197 upstr_intron -14 -0.2407407 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATTGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 302 102 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.155 0.649 . intron_variant MODIFIER BCAS4 HGNC 14367 ENST00000358791 1/5 1 NA TCG C,T 4.942e-05 20:50818197 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 intron_variant 1.712842 0.26237 0.00232 0.279481 0.8153432 0.248243 0.04663932 FALSE 4.47733e-05 ENSE00001771459_005 ENSE00001771459 005 20 49434694 49434863 + 54 72 44 G C 49434735 1657 42 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCCTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818197 50818198 50818198 upstr_intron -13 -0.2222222 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCCTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 269 1766 1 0.9993726 0.9996863 NA NA 1 1 NA NA 0 -0.0006274003 NA 1 NA -0.0003137001 NA FALSE NA 0.258 0.53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:50818198 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 intron_variant 1.576323 0.51427 0.13124 0.279481 0.767987 0.829486 0.04663932 FALSE 1.22078e-05 ENSE00001771459_006 ENSE00001771459 006 20 49434694 49434863 + 54 72 44 C T 49434749 1658 56 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGTGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818211 50818212 50818212 exon 2 0.02777778 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGTGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 221 109 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 1.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:50818212 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 missense_variant 2.214731 0.91948 0.20228 0.75658 0.8387204 0 0.04663932 FALSE 1.22005e-05 ENSE00001771459_007 ENSE00001771459 007 20 49434694 49434863 + 54 72 44 C A 49434749 1659 56 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGAGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818211 50818212 50818212 exon 2 0.02777778 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGAGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 347 769 0.9937901 0.9990473 0.9964187 NA NA 1 1 NA NA -0.006209949 -0.0009526842 NA 1 NA -0.003581317 NA FALSE NA 1 1.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCAS4 NA NA NA ENSG00000124243 ENSE00003528368 missense_variant 5.350088 0.92986 0.40168 0.75658 0.9871753 0 0.04663932 FALSE 4.06683e-06 ENSE00001771459_009 ENSE00001771459 009 20 49434694 49434863 + 54 72 44 G C 49434750 1661 57 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCCAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818212 50818213 50818213 exon 3 0.04166667 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCCAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 261 721 1 0.9965051 0.9982526 NA NA 1 1 NA NA 0 -0.003494894 NA 1 NA -0.001747447 NA FALSE NA 0.995 0.237 NA NA NA BCAS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:50818213 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 splice_region_variant 1.914864 0.94071 0.45437 0.75658 0.7553452 0 0.04663932 FALSE 8.13306e-06 ENSE00001771459_010 ENSE00001771459 010 20 49434694 49434863 + 54 72 44 G A 49434762 1662 69 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAAGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818224 50818225 50818225 exon 15 0.2083333 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAAGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 222 60 1 0.9594107 0.9797054 NA NA 1 1 NA NA 0 -0.04058927 NA 1 NA -0.02029464 NA FALSE NA 1 0.988 . synonymous_variant LOW BCAS4 HGNC 14367 ENST00000358791 2/6 1 NA AGG G,A 8.236e-06 20:50818225 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 synonymous_variant 1.291032 0.94878 0.26785 0.75658 0.8272805 0 0.04663932 FALSE 8.13504e-06 ENSE00001771459_012 ENSE00001771459 012 20 49434694 49434863 + 54 72 44 C T 49434771 1664 78 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATTGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818233 50818234 50818234 exon 24 0.3333333 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATTGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 54 279 1 0.9994327 0.9997164 NA NA 1 1 NA NA 0 -0.000567277 NA 1 NA -0.0002836385 NA FALSE NA 0.861 -0.895 . synonymous_variant LOW BCAS4 HGNC 14367 ENST00000358791 2/6 rs201932513 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 1.647e-05 20:50818234 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 synonymous_variant 2.735671 0.86352 0.07387 0.75658 0.8605021 0 0.04663932 FALSE 2.035e-05 ENSE00001771459_013 ENSE00001771459 013 20 49434694 49434863 + 54 72 44 G A 49434772 1665 79 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCAAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818234 50818235 50818235 exon 25 0.3472222 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCAAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 169 92 1 0.9804999 0.9902499 NA NA 1 1 NA NA 0 -0.01950014 NA 1 NA -0.009750069 NA FALSE NA 1 2.974 . missense_variant MODERATE BCAS4 HGNC 14367 ENST00000358791 2/6 rs370907861 1 deleterious(0.02) possibly_damaging(0.627) NA A:0 A:0.0002 CGA G,A 6.589e-05 20:50818235 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 missense_variant 6.380835 0.97094 0.50435 0.75658 0.9984655 0 0.04663932 FALSE 5.28911e-05 ENSE00001771459_014 ENSE00001771459 014 20 49434694 49434863 + 54 72 44 A G 49434778 1666 85 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCGTGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818240 50818241 50818241 exon 31 0.4305556 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCGTGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 81 288 0.9723991 0.9966265 0.9845128 NA NA 1 1 NA NA -0.0276009 -0.003373478 NA 1 NA -0.01548719 NA FALSE NA 0.709 0.426 . missense_variant MODERATE BCAS4 HGNC 14367 ENST00000358791 2/6 rs532303612 1 deleterious(0.04) benign(0.057) G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 CAT A,G 3.295e-05 20:50818241 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 missense_variant 0.73682 0.93796 0.10014 0.75658 0.9602659 0 0.04663932 FALSE 2.03563e-05 ENSE00001771459_017 ENSE00001771459 017 20 49434694 49434863 + 54 72 44 G A 49434792 1669 99 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTAGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818254 50818255 50818255 exon -28 0.625 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTAGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 31 47 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 1.202 . synonymous_variant LOW BCAS4 HGNC 14367 ENST00000358791 2/6 1 NA TGG G,A 1.647e-05 20:50818255 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 synonymous_variant 1.224075 0.97051 0.23484 0.75658 0.8360376 0 0.04663932 FALSE 8.18023e-06 ENSE00001771459_018 ENSE00001771459 018 20 49434694 49434863 + 54 72 44 A G 49434815 1670 122 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGGCCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818277 50818278 50818278 exon -5 0.9444444 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGGCCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 83 18 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 1 2.951 . missense_variant MODERATE BCAS4 HGNC 14367 ENST00000358791 2/6 1 deleterious(0) probably_damaging(0.935) NA GAC A,G 8.236e-06 20:50818278 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 missense_variant 5.110447 0.96542 0.51231 0.730579 0.9973947 0 0.04663932 FALSE 4.10038e-06 ENSE00001771459_021 ENSE00001771459 021 20 49434694 49434863 + 54 72 44 G A 49434844 1673 151 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGAGTTTAGGCCCAGGCCAGAC 50818156 50818326 50818306 50818307 50818307 downstr_intron 25 1.581395 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGAGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 56 294 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.001 0.161 . intron_variant MODIFIER BCAS4 HGNC 14367 ENST00000358791 2/5 1 NA GGG G,A 8.248e-06 20:50818307 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 intron_variant -0.110043 0.33498 0.02108 0.108992 0.4309228 0.116507 0.04663932 FALSE 4.37575e-06 ENSE00001771459_022 ENSE00001771459 022 20 49434694 49434863 + 54 72 44 G A 49434850 1674 157 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAAGCCCAGGCCAGAC 50818156 50818326 50818312 50818313 50818313 downstr_intron 31 1.72093 GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAAGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC mutant NA NA NA NA NA 92 246 1 0.9993566 0.9996783 NA NA 1 1 NA NA 0 -0.0006434399 NA 1 NA -0.0003217199 NA FALSE NA 0.068 0.134 . intron_variant MODIFIER BCAS4 HGNC 14367 ENST00000358791 2/5 1 NA AGG G,A 8.255e-06 20:50818313 BCAS4 HGNC Symbol protein_coding 87782 ENSG00000124243 ENSE00003528368 intron_variant 0.062134 0.39874 0.01983 0.108992 0.5493925 0.141153 0.04663932 FALSE 4.4958e-06 ENSE00001771459_BRK ENSE00001771459 BRK 20 49434694 49434863 + 54 72 44 A,G; T,T NA NA NA GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCTTGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGCCGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC 50818156 50818326 NA NA NA NA NA NA GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCTTGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGCCGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC GTTTGTCTCCCTGGAAACCACTTGCTAATCTCCAGGATATCGTCTCTTTTTCAGGCGAAGGAGGTGGAGGAGACCATCGAGGGCATGCTCCTCAGGCTGGAAGAGTTTTGCAGCCTGGCTGACCTGGTGAGTGGCTGCCTGGAAGGCGTGGGTTTAGGCCCAGGCCAGAC control 17 31 0.85 0.85 0.85 NA NA NA NA NA NA NA 1 1 NA NA NA NA NA 1 NA NA NA NA NA NA NA NA NA NA BCAS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCAS4 NA NA NA ENSG00000124243 ENSE00003528368 NA NA NA NA NA NA NA 0.04663932 FALSE NA ENSE00001773122_000 ENSE00001773122 000 9 35397581 35397750 + 51 78 41 NA NA NA NA NA TAGAAGAGCTAAGAGTTCCCTTTCCTTTTCTTTCCTTTCTCCTCTTCTCAGACCATCGGGAAGGTGCTGATGCAGTATGCAGACATCTTGTCAAAGGACTTCCCAGCCTATTGCACAAAGGAGAAACTGGTAGGTTCAGGCCCTGGGACTCTTACAGAAAGAGAGTGGAA 35397583 35397753 NA NA NA NA NA NA TAGAAGAGCTAAGAGTTCCCTTTCCTTTTCTTTCCTTTCTCCTCTTCTCAGACCATCGGGAAGGTGCTGATGCAGTATGCAGACATCTTGTCAAAGGACTTCCCAGCCTATTGCACAAAGGAGAAACTGGTAGGTTCAGGCCCTGGGACTCTTACAGAAAGAGAGTGGAA TAGAAGAGCTAAGAGTTCCCTTTCCTTTTCTTTCCTTTCTCCTCTTCTCAGACCATCGGGAAGGTGCTGATGCAGTATGCAGACATCTTGTCAAAGGACTTCCCAGCCTATTGCACAAAGGAGAAACTGGTAGGTTCAGGCCCTGGGACTCTTACAGAAAGAGAGTGGAA natural NA NA NA NA NA 406 386 0.993541 0.9959029 0.9947219 NA NA 0.993541 0.9959029 NA NA 0 0 NA 0.9947219 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003661933 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00001773744_000 ENSE00001773744 000 5 871581 871750 - 60 39 71 NA NA NA NA NA GGATACAACTTTCCCTGTGAGAATAATATTTGGCTTGCCCTTCCATGTTCAAAAACTTACCTTGGCTTCATCTGGAGGCTTCATGGGAACATTTCTTCTCTGAAAAGTAAATGAGGACAGAAACTAGTTTTTCCAGAGTGATTTCATAGAAACGGACAATTCGCTGACAT 871465 871635 NA NA NA NA NA NA ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC natural 130 158 0.8457721 0.8359887 0.8408804 2181 320 0.9611334 0.9339329 0.9475332 0.8457721 0.8359887 0.9611334 0.9339329 0 0 0 0 0.8408804 0.9475332 0 0 0 FALSE FALSE NA NA NA NA NA BRD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRD9 NA NA NA ENSG00000028310 ENSE00003522882 NA NA NA NA NA NA NA 0.2491879 FALSE NA ENSE00001773744_001 ENSE00001773744 001 5 871581 871750 - 60 39 71 T C 871592 55 159 GGATACAACTTCCCCTGTGAGAATAATATTTGGCTTGCCCTTCCATGTTCAAAAACTTACCTTGGCTTCATCTGGAGGCTTCATGGGAACATTTCTTCTCTGAAAAGTAAATGAGGACAGAAACTAGTTTTTCCAGAGTGATTTCATAGAAACGGACAATTCGCTGACAT 871465 871635 871476 871477 871477 downstr_intron 49 1.830508 ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGGAAGTTGTATCC ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC mutant NA NA NA NA NA 15 51 1 0.9708732 0.9854366 0.8457721 0.8359887 0.9611334 0.9339329 NA NA 0.03886655 0.03694039 0.8408804 0.9475332 NA 0.03790347 NA FALSE NA 0 -0.336 . intron_variant MODIFIER BRD9 HGNC 25818 ENST00000467963 13/15 1 NA TTC T,C 2.471e-05 5:871477 BRD9 HGNC Symbol protein_coding 42533 ENSG00000028310 ENSE00003522882 intron_variant 0.14919 0.17869 0.04599 0.115753 0.2462649 0.046875 0.2491879 FALSE 1.62446e-05 ENSE00001773744_004 ENSE00001773744 004 5 871581 871750 - 60 39 71 T G 871598 58 153 GGATACAACTTTCCCTGGGAGAATAATATTTGGCTTGCCCTTCCATGTTCAAAAACTTACCTTGGCTTCATCTGGAGGCTTCATGGGAACATTTCTTCTCTGAAAAGTAAATGAGGACAGAAACTAGTTTTTCCAGAGTGATTTCATAGAAACGGACAATTCGCTGACAT 871465 871635 871482 871483 871483 downstr_intron 43 1.728814 ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCCCAGGGAAAGTTGTATCC ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC mutant NA NA NA NA NA 181 41 0.9944121 0.8717405 0.9330763 0.8457721 0.8359887 0.9611334 0.9339329 NA NA 0.03327867 -0.06219233 0.8408804 0.9475332 NA -0.01445683 NA FALSE NA 0 -3.19 NA NA NA BRD9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:871483 BRD9 HGNC Symbol protein_coding 42533 ENSG00000028310 ENSE00003522882 intron_variant -0.023723 0.1397 0.03239 0.256867 0.4652209 0.046875 0.2491879 FALSE 8.12242e-06 ENSE00001773744_006 ENSE00001773744 006 5 871581 871750 - 60 39 71 A G 871608 60 143 GGATACAACTTTCCCTGTGAGAATAATGTTTGGCTTGCCCTTCCATGTTCAAAAACTTACCTTGGCTTCATCTGGAGGCTTCATGGGAACATTTCTTCTCTGAAAAGTAAATGAGGACAGAAACTAGTTTTTCCAGAGTGATTTCATAGAAACGGACAATTCGCTGACAT 871465 871635 871492 871493 871493 downstr_intron 33 1.559322 ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAACATTATTCTCACAGGGAAAGTTGTATCC ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC mutant NA NA NA NA NA 46 885 0.9373895 0.9549286 0.946159 0.8457721 0.8359887 0.9611334 0.9339329 NA NA -0.02374399 0.02099578 0.8408804 0.9475332 NA -0.001374106 NA FALSE NA 0 -0.385 . intron_variant MODIFIER BRD9 HGNC 25818 ENST00000467963 13/15 1 NA TAT A,G 8.236e-06 5:871493 BRD9 HGNC Symbol protein_coding 42533 ENSG00000028310 ENSE00003522882 intron_variant -0.416557 0.11768 0.04914 0.256867 0.2368026 0.046875 0.2491879 FALSE 4.06075e-06 ENSE00001773744_008 ENSE00001773744 008 5 871581 871750 - 60 39 71 T C 871616 62 135 GGATACAACTTTCCCTGTGAGAATAATATTTGGCTCGCCCTTCCATGTTCAAAAACTTACCTTGGCTTCATCTGGAGGCTTCATGGGAACATTTCTTCTCTGAAAAGTAAATGAGGACAGAAACTAGTTTTTCCAGAGTGATTTCATAGAAACGGACAATTCGCTGACAT 871465 871635 871500 871501 871501 downstr_intron 25 1.423729 ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCGAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC mutant NA NA NA NA NA 1058 25 0.9914089 0.9936205 0.9925147 0.8457721 0.8359887 0.9611334 0.9339329 NA NA 0.03027542 0.05968768 0.8408804 0.9475332 NA 0.04498155 NA FALSE NA 0 -2.966 . intron_variant MODIFIER BRD9 HGNC 25818 ENST00000467963 13/15 1 NA TTG T,C 8.236e-06 5:871501 BRD9 HGNC Symbol protein_coding 42533 ENSG00000028310 ENSE00003522882 intron_variant -0.094983 0.16032 0.02598 0.256867 0.3779665 0.046875 0.2491879 FALSE 4.06068e-06 ENSE00001773744_013 ENSE00001773744 013 5 871581 871750 - 60 39 71 T C 871672 67 79 GGATACAACTTTCCCTGTGAGAATAATATTTGGCTTGCCCTTCCATGTTCAAAAACTTACCTTGGCTTCATCTGGAGGCTTCATGGGAACACTTCTTCTCTGAAAAGTAAATGAGGACAGAAACTAGTTTTTCCAGAGTGATTTCATAGAAACGGACAATTCGCTGACAT 871465 871635 871556 871557 871557 exon 8 0.2051282 ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAGTGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC mutant NA NA NA NA NA 616 512 0.8610197 0.9987263 0.929873 0.8457721 0.8359887 0.9611334 0.9339329 NA NA -0.1001137 0.06479344 0.8408804 0.9475332 NA -0.01766015 NA FALSE NA 0.307 0.268 . missense_variant MODERATE BRD9 HGNC 25818 ENST00000467963 13/16 1 tolerated(0.6) benign(0.001) NA ATT T,C 8.236e-06 5:871557 BRD9 HGNC Symbol protein_coding 42533 ENSG00000028310 ENSE00003522882 missense_variant -2.426524 0.1655 0.23714 0.706548 0.3351714 0 0.2491879 FALSE 8.12117e-06 ENSE00001773744_018 ENSE00001773744 018 5 871581 871750 - 60 39 71 T C 871727 72 24 GGATACAACTTTCCCTGTGAGAATAATATTTGGCTTGCCCTTCCATGTTCAAAAACTTACCTTGGCTTCATCTGGAGGCTTCATGGGAACATTTCTTCTCTGAAAAGTAAATGAGGACAGAAACTAGTTTTTCCAGAGTGATTTCACAGAAACGGACAATTCGCTGACAT 871465 871635 871611 871612 871612 upstr_intron -48 -0.6619718 ATGTCAGCGAATTGTCCGTTTCTGTGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC mutant NA NA NA NA NA 94 1079 1 0.9734268 0.9867134 0.8457721 0.8359887 0.9611334 0.9339329 NA NA 0.03886655 0.03949394 0.8408804 0.9475332 NA 0.03918025 NA FALSE NA 0 -0.895 . intron_variant MODIFIER BRD9 HGNC 25818 ENST00000467963 12/15 rs546159598 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATA T,C 3.295e-05 5:871612 BRD9 HGNC Symbol protein_coding 42533 ENSG00000028310 ENSE00003522882 intron_variant -0.044863 0.15729 0.02764 0.099367 0.2736446 0.0809303 0.2491879 FALSE 2.43829e-05 ENSE00001773744_BRK ENSE00001773744 BRK 5 871581 871750 - 60 39 71 A,G; T,T NA NA NA GGATACAACTTTCCCTGTGAGAATAATATTTGGCTTGCCCTTCCATGTTCAAAAACTTGGCTTGGCTTCATCTGGAGGCTTCATGGGAACATTTCTTCTAAGAAAAGTAAATGAGGACAGAAACTAGTTTTTCCAGAGTGATTTCATAGAAACGGACAATTCGCTGACAT 871465 871635 NA NA NA NA NA NA ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCTTAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGCCAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC ATGTCAGCGAATTGTCCGTTTCTATGAAATCACTCTGGAAAAACTAGTTTCTGTCCTCATTTACTTTTCAGAGAAGAAATGTTCCCATGAAGCCTCCAGATGAAGCCAAGGTAAGTTTTTGAACATGGAAGGGCAAGCCAAATATTATTCTCACAGGGAAAGTTGTATCC control NA NA NA NA NA 838 267 0.006527119 0.04128674 0.02390693 0.8457721 0.8359887 0.9611334 0.9339329 NA NA -0.9546063 -0.8926461 0.8408804 0.9475332 NA -0.9236262 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRD9 NA NA NA ENSG00000028310 ENSE00003522882 NA NA NA NA NA NA NA 0.2491879 FALSE NA ENSE00001773825_000 ENSE00001773825 000 16 14988811 14988980 + 44 93 33 NA NA NA NA NA CGTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG 14894953 14895123 NA NA NA NA NA NA CGTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG CGTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG natural NA NA NA NA NA 114 256 0.977511 0.982463 0.979987 NA NA 0.977511 0.982463 NA NA 0 0 NA 0.979987 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NOMO1 NA NA NA ENSG00000103512 ENSE00003671735 NA NA NA NA NA NA NA NA NA NA ENSE00001773825_001 ENSE00001773825 001 16 14988811 14988980 + 44 93 33 A G 14988833 954 23 CGTGTGGCCTTGGTGAGGAGTGGTGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG 14894953 14895123 14894975 14894976 14894976 upstr_intron -22 -0.4772727 CGTGTGGCCTTGGTGAGGAGTGGTGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG CGTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG mutant NA NA NA NA NA 43 136 0.8898072 0.8218075 0.8558073 NA NA 0.977511 0.982463 NA NA -0.08770383 -0.1606555 NA 0.979987 NA -0.1241797 NA FALSE NA 0.001 1.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:14894976 NOMO1 HGNC Symbol protein_coding 62479 ENSG00000103512 ENSE00003671735 intron_variant 0.143312 0.13214 0.02308 0.262962 0.6252637 0.107096 NA NA 4.0665e-06 ENSE00001773825_002 ENSE00001773825 002 16 14988811 14988980 + 44 93 33 A T 14988833 955 23 CGTGTGGCCTTGGTGAGGAGTGTTGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG 14894953 14895123 14894975 14894976 14894976 upstr_intron -22 -0.4772727 CGTGTGGCCTTGGTGAGGAGTGTTGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG CGTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG mutant NA NA NA NA NA 135 71 0.8793664 0.8471677 0.863267 NA NA 0.977511 0.982463 NA NA -0.09814461 -0.1352954 NA 0.979987 NA -0.11672 NA FALSE NA 0.001 1.081 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NOMO1 NA NA NA ENSG00000103512 ENSE00003671735 intron_variant 0.015272 0.12816 0.03613 0.262962 0.7700418 0.107096 NA NA 4.0665e-06 ENSE00001773825_003 ENSE00001773825 003 16 14988811 14988980 + 44 93 33 C T 14988929 956 119 CGTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCTGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG 14894953 14895123 14895071 14895072 14895072 exon -19 0.8064516 CGTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCTGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG CGTGTGGCCTTGGTGAGGAGTGATGGGGCTCTCGGTGTTTGCAGAGGAAGCTGCCTGAACAGGACATCGCACAAGGATCCTACATTGCCCTGCCATTGACGCTGCTGGTTCTGCTGGCCGGTTACAACCATGACAAGGTAGGAAATCCAGAGGCCTCAGGAGATGGCGGG mutant NA NA NA NA NA 532 34 0.9308106 1 0.9654053 NA NA 0.977511 0.982463 NA NA -0.04670045 0.01753698 NA 0.979987 NA -0.01458173 NA FALSE NA 0 -3.252 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:14895072 NOMO1 HGNC Symbol protein_coding 62479 ENSG00000103512 ENSE00003671735 synonymous_variant 2.428341 0.299 0.0068 0.732398 0.5846537 0 NA NA 0.00141447 ENSE00001773828_000 ENSE00001773828 000 2 7170212 7170381 + 45 90 35 NA NA NA NA NA GCAGGAACCACTCGTTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAGGTTGATCTCAGA 7030080 7030250 NA NA NA NA NA NA GCAGGAACCACTCGTTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAGGTTGATCTCAGA GCAGGAACCACTCGTTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAGGTTGATCTCAGA natural 11 11 0.9991938 1 0.9995969 808 646 0.9893257 0.8364669 0.9128963 0.9991938 1 0.9893257 0.8364669 0 0 0 0 0.9995969 0.9128963 0 0 0 FALSE FALSE NA NA NA NA NA RNF144A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF144A NA NA NA ENSG00000151692 ENSE00003661422 NA NA NA NA NA NA NA 0.9882585 TRUE NA ENSE00001773828_004 ENSE00001773828 004 2 7170212 7170381 + 45 90 35 G A 7170225 89 14 GCAGGAACCACTCATTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAGGTTGATCTCAGA 7030080 7030250 7030093 7030094 7030094 upstr_intron -32 -0.6888889 GCAGGAACCACTCATTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAGGTTGATCTCAGA GCAGGAACCACTCGTTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAGGTTGATCTCAGA mutant NA NA NA NA NA 49 602 1 1 1 0.9991938 1 0.9893257 0.8364669 NA NA 0.01067427 0.1635331 0.9995969 0.9128963 NA 0.0871037 NA FALSE NA 0 -0.52 . intron_variant MODIFIER RNF144A HGNC 20457 ENST00000432850 5/6 1 NA CGT G,A 8.236e-06 2:7030094 RNF144A HGNC Symbol protein_coding 150894 ENSG00000151692 ENSE00003661422 intron_variant -0.192401 0.1463 0.01957 0.162113 0.7046929 0.0489231 0.9882585 TRUE 8.1698e-06 ENSE00001773828_028 ENSE00001773828 028 2 7170212 7170381 + 45 90 35 G A 7170369 113 158 GCAGGAACCACTCGTTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAAGTTGATCTCAGA 7030080 7030250 7030237 7030238 7030238 downstr_intron 23 1.676471 GCAGGAACCACTCGTTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAAGTTGATCTCAGA GCAGGAACCACTCGTTCATGCCGTCTCTGTCTCTGCCCCTCACAGGATGATTTCCTTCTGATACACTACGATAAGGGACCCTGCCGGAACAAGCTGGGCCACTCCCGGGCATCTGTGATCTGGCATCGGACACAGGTAGGAGGTGATTTGCCTGGAAGGTTGATCTCAGA mutant NA NA NA NA NA 34 1023 1 0.9989892 0.9994946 0.9991938 1 0.9893257 0.8364669 NA NA 0.01067427 0.1625223 0.9995969 0.9128963 NA 0.0865983 NA FALSE NA 0 -1.198 . intron_variant MODIFIER RNF144A HGNC 20457 ENST00000432850 6/6 1 NA AGG G,A 8.237e-06 2:7030238 RNF144A HGNC Symbol protein_coding 150894 ENSG00000151692 ENSE00003661422 intron_variant -0.07293 0.1656 0.02363 0.088506 0.7458066 0.048355 0.9882585 TRUE 4.08097e-06 ENSE00001774139_000 ENSE00001774139 000 12 1919396 1919565 - 48 63 59 NA NA NA NA NA GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 NA NA NA NA NA NA CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC natural NA NA NA NA NA 678 1931 0.9927097 0.9780629 0.9853863 NA NA 0.9927097 0.9780629 NA NA 0 0 NA 0.9853863 NA 0 NA FALSE NA NA NA NA NA NA CACNA2D4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D4 NA NA NA ENSG00000151062 ENSE00003674794 NA NA NA NA NA NA NA 4.571685e-22 FALSE NA ENSE00001774139_002 ENSE00001774139 002 12 1919396 1919565 - 48 63 59 G A 1919407 102 159 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGTGGCAGGAGGAC 1810229 1810399 1810240 1810241 1810241 downstr_intron 37 1.787234 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGTGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 162 57 0.8486182 1 0.9243091 NA NA 0.9927097 0.9780629 NA NA -0.1440915 0.02193706 NA 0.9853863 NA -0.06107723 NA FALSE NA 0.005 0.361 . intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/5 1 NA CGC G,A 8.275e-05 12:1810241 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 intron_variant 0.269311 0.26433 0.02317 0.087844 0.6413139 0.0827626 4.571685e-22 FALSE 6.60044e-05 ENSE00001774139_003 ENSE00001774139 003 12 1919396 1919565 - 48 63 59 C T 1919416 103 150 GTCCTCCTGCCGCCCTCTCCTCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810249 1810250 1810250 downstr_intron 28 1.595745 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGAGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 46 300 1 0.9974083 0.9987042 NA NA 0.9927097 0.9780629 NA NA 0.007290302 0.01934537 NA 0.9853863 NA 0.01331784 NA FALSE NA 0 -0.328 . intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/5 1 NA CCC C,T 8.276e-06 12:1810250 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 intron_variant 0.256579 0.23943 0.05955 0.087844 0.8118112 0.082135 4.571685e-22 FALSE 1.22456e-05 ENSE00001774139_004 ENSE00001774139 004 12 1919396 1919565 - 48 63 59 C G 1919418 104 148 GTCCTCCTGCCGCCCTCTCCCCGTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810251 1810252 1810252 downstr_intron 26 1.553191 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGACGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 82 218 0.999497 0.9752482 0.9873726 NA NA 0.9927097 0.9780629 NA NA 0.006787348 -0.002814711 NA 0.9853863 NA 0.001986319 NA FALSE NA 0 -0.538 NA NA NA CACNA2D4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:1810252 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 intron_variant 0.13851 0.23326 0.09451 0.087844 0.5052333 0.082135 4.571685e-22 FALSE 1.22387e-05 ENSE00001774139_006 ENSE00001774139 006 12 1919396 1919565 - 48 63 59 C G 1919446 106 120 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTGTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810279 1810280 1810280 exon -3 0.968254 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGACAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 670 345 0.9991545 1 0.9995773 NA NA 0.9927097 0.9780629 NA NA 0.006444834 0.02193706 NA 0.9853863 NA 0.01419095 NA FALSE NA 0.986 3.03 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW CACNA2D4 HGNC 20202 ENST00000589502 3/6 1 NA TCT C,G 8.275e-06 12:1810280 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 0.690566 0.89598 0.76205 0.428477 0.5985885 0 4.571685e-22 FALSE 1.21966e-05 ENSE00001774139_008 ENSE00001774139 008 12 1919396 1919565 - 48 63 59 C A 1919448 108 118 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCTAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC 1810229 1810399 1810281 1810282 1810282 exon -5 0.9365079 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCTAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 116 29 1 1 1 NA NA 0.9927097 0.9780629 NA NA 0.007290302 0.02193706 NA 0.9853863 NA 0.01461368 NA FALSE NA 0.005 0.647 NA NA NA CACNA2D4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:1810282 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 1.23091 0.28107 0.06933 0.428477 0.8759873 0 4.571685e-22 FALSE 4.06511e-06 ENSE00001774139_009 ENSE00001774139 009 12 1919396 1919565 - 48 63 59 G C 1919449 109 117 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCCGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810282 1810283 1810283 exon -6 0.9206349 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCGGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 478 321 0.9987014 1 0.9993507 NA NA 0.9927097 0.9780629 NA NA 0.005991672 0.02193706 NA 0.9853863 NA 0.01396436 NA FALSE NA 0.003 0.291 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 1 NA CGG G,C 1.655e-05 12:1810283 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 1.059976 0.2671 0.09072 0.428477 0.8712592 0 4.571685e-22 FALSE 1.21958e-05 ENSE00001774139_012 ENSE00001774139 012 12 1919396 1919565 - 48 63 59 G C 1919460 112 106 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGCAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810293 1810294 1810294 exon -17 0.7460317 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTGCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 11 504 1 0.9939905 0.9969953 NA NA 0.9927097 0.9780629 NA NA 0.007290302 0.01592759 NA 0.9853863 NA 0.01160895 NA FALSE NA 1 6.182 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 1 NA GGA G,C 1.655e-05 12:1810294 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 4.709583 0.9311 0.9295 0.428477 0.9926541 0 4.571685e-22 FALSE 4.06289e-06 ENSE00001774139_013 ENSE00001774139 013 12 1919396 1919565 - 48 63 59 C A 1919475 113 91 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGTGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC 1810229 1810399 1810308 1810309 1810309 exon -32 0.5079365 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGTGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 627 145 0.9995396 0.9864449 0.9929923 NA NA 0.9927097 0.9780629 NA NA 0.006829947 0.008381945 NA 0.9853863 NA 0.007605946 NA FALSE NA 0.941 5.155 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 1 NA CCC C,A 8.273e-06 12:1810309 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 5.182437 0.9013 0.85809 0.428477 0.9962923 0 4.571685e-22 FALSE 4.06273e-06 ENSE00001774139_014 ENSE00001774139 014 12 1919396 1919565 - 48 63 59 C T 1919476 114 90 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCTGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810309 1810310 1810310 exon 31 0.4920635 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACAGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 312 460 0.9982725 1 0.9991363 NA NA 0.9927097 0.9780629 NA NA 0.005562848 0.02193706 NA 0.9853863 NA 0.01374995 NA FALSE NA 0.941 5.155 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 rs368973969 1 NA T:0.0003 T:0.0001 CCG C,T 4.964e-05 12:1810310 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 6.113747 0.92233 0.85995 0.428477 0.9990735 0 4.571685e-22 FALSE 4.46922e-05 ENSE00001774139_015 ENSE00001774139 015 12 1919396 1919565 - 48 63 59 G A 1919477 115 89 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAATGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC 1810229 1810399 1810310 1810311 1810311 exon 30 0.4761905 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAATGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 16 21 0.8825554 1 0.9412777 NA NA 0.9927097 0.9780629 NA NA -0.1101543 0.02193706 NA 0.9853863 NA -0.04410861 NA FALSE NA 0.035 -0.851 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 1 NA CGT G,A 0.0003227 12:1810311 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 synonymous_variant -0.084383 0.66325 0.02038 0.428477 0.8013295 0 4.571685e-22 FALSE 0.000325013 ENSE00001774139_016 ENSE00001774139 016 12 1919396 1919565 - 48 63 59 C T 1919485 116 81 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTTGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810318 1810319 1810319 exon 22 0.3492063 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCAACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 311 281 1 0.9951145 0.9975572 NA NA 0.9927097 0.9780629 NA NA 0.007290302 0.01705155 NA 0.9853863 NA 0.01217093 NA FALSE NA 0.996 5.155 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 COSM937750&COSM937751 1 NA TCG C,T 8.273e-06 12:1810319 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 5.768244 0.92015 0.86081 0.428477 0.9990061 0 4.571685e-22 FALSE 8.1275e-06 ENSE00001774139_017 ENSE00001774139 017 12 1919396 1919565 - 48 63 59 G A 1919486 117 80 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATTGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC 1810229 1810399 1810319 1810320 1810320 exon 21 0.3333333 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATTGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 555 1432 0.9350878 0.9966073 0.9658475 NA NA 0.9927097 0.9780629 NA NA -0.05762188 0.01854433 NA 0.9853863 NA -0.01953877 NA FALSE NA 0 -3.101 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 rs374453274 1 NA A:0.0003 A:0 CGA G,A 8.272e-06 12:1810320 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 synonymous_variant 0.17116 0.09981 0.01993 0.428477 0.8138621 0 4.571685e-22 FALSE NA ENSE00001774139_018 ENSE00001774139 018 12 1919396 1919565 - 48 63 59 T C 1919488 118 78 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCGTCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC 1810229 1810399 1810321 1810322 1810322 exon 19 0.3015873 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCGTCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 130 193 0.9990464 1 0.9995232 NA NA 0.9927097 0.9780629 NA NA 0.006336718 0.02193706 NA 0.9853863 NA 0.01413689 NA FALSE NA 0.011 -0.055 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 1 NA ATG T,C 8.272e-06 12:1810322 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant -1.793058 0.15326 0.0851 0.428477 0.4243539 0 4.571685e-22 FALSE 4.06362e-06 ENSE00001774139_019 ENSE00001774139 019 12 1919396 1919565 - 48 63 59 C T 1919491 119 75 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGATGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810324 1810325 1810325 exon 16 0.2539683 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCATCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 310 26 0.9879898 1 0.9939949 NA NA 0.9927097 0.9780629 NA NA -0.00471986 0.02193706 NA 0.9853863 NA 0.008608598 NA FALSE NA 0.006 -0.369 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 3/6 COSM1729956&COSM1729955 1 NA ACG C,T 8.273e-05 12:1810325 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 1.268844 0.36394 0.05649 0.740787 0.8588262 0 4.571685e-22 FALSE 6.50237e-05 ENSE00001774139_020 ENSE00001774139 020 12 1919396 1919565 - 48 63 59 C A 1919506 120 60 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGTATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC 1810229 1810399 1810339 1810340 1810340 exon 1 0.01587302 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGTATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 189 728 0.05676823 0.01755003 0.03715913 NA NA 0.9927097 0.9780629 NA NA -0.9359415 -0.9605129 NA 0.9853863 NA -0.9482272 NA TRUE NA 1 1.201 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW CACNA2D4 HGNC 20202 ENST00000589502 3/6 1 NA TCC C,A 8.271e-06 12:1810340 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 missense_variant 3.6775 0.90803 0.74335 0.428477 0.9916633 0 4.571685e-22 FALSE NA ENSE00001774139_022 ENSE00001774139 022 12 1919396 1919565 - 48 63 59 G A 1919526 122 40 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCTCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC 1810229 1810399 1810359 1810360 1810360 upstr_intron -20 -0.3220339 CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCTCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 403 477 1 1 1 NA NA 0.9927097 0.9780629 NA NA 0.007290302 0.02193706 NA 0.9853863 NA 0.01461368 NA FALSE NA 0.001 0.668 . intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 2/5 1 NA GGG G,A 1.654e-05 12:1810360 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 intron_variant 0.488362 0.67177 0.12144 0.087844 0.7132287 0.189845 4.571685e-22 FALSE 1.22322e-05 ENSE00001774139_023 ENSE00001774139 023 12 1919396 1919565 - 48 63 59 C T 1919543 123 23 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCTCTCACCCACCCCGGTCCTCCAG 1810229 1810399 1810376 1810377 1810377 upstr_intron -37 -0.6101695 CTGGAGGACCGGGGTGGGTGAGAGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 855 618 0.9738543 0.9991868 0.9865205 NA NA 0.9927097 0.9780629 NA NA -0.01885541 0.02112382 NA 0.9853863 NA 0.001134203 NA FALSE NA 0 -1.1 rs2286377 intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 2/5 rs2286377 1 T:0.4623 T:0.23 T:0.4452 NA T:0.5714 T:0.6123 T:0.5215 T:0.3145 T:0.6298 CCC C,T 0.567 12:1810377 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 intron_variant 0.433056 0.19276 0.00871 0.087844 0.6680359 0.0688538 4.571685e-22 FALSE 0.573491 ENSE00001774139_026 ENSE00001774139 026 12 1919396 1919565 - 48 63 59 C T 1919552 126 14 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCATCCCGGTCCTCCAG 1810229 1810399 1810385 1810386 1810386 upstr_intron -46 -0.7627119 CTGGAGGACCGGGATGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 45 138 1 1 1 NA NA 0.9927097 0.9780629 NA NA 0.007290302 0.02193706 NA 0.9853863 NA 0.01461368 NA FALSE NA 0 -1.224 . intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 2/5 rs373179862 1 NA T:0.0002 T:0 ACC C,T 3.308e-05 12:1810386 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 intron_variant 0.056784 0.19136 0.04732 0.074388 0.4976567 0.0688538 4.571685e-22 FALSE 1.68564e-05 ENSE00001774139_027 ENSE00001774139 027 12 1919396 1919565 - 48 63 59 C T 1919553 127 13 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACTCCGGTCCTCCAG 1810229 1810399 1810386 1810387 1810387 upstr_intron -47 -0.779661 CTGGAGGACCGGAGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 521 171 0.9928642 0.999074 0.9959691 NA NA 0.9927097 0.9780629 NA NA 0.0001545201 0.02101106 NA 0.9853863 NA 0.01058279 NA FALSE NA 0 -0.415 rs2286376 intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 2/5 rs2286376 1 T:0.0589 T:0.1067 T:0.0331 NA T:0.0675 T:0.0089 T:0.0552 T:0.0792 T:0.0037 CCC C,T 0.031 12:1810387 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 intron_variant 0.175709 0.17564 0.01987 0.074388 0.3816685 0.0688538 4.571685e-22 FALSE 0.0322499 ENSE00001774139_028 ENSE00001774139 028 12 1919396 1919565 - 48 63 59 C T 1919555 128 11 GTCCTCCTGCCGCCCTCTCCCCCTCATTCTATATCCCCAGTGACTCACCTCTCGGGACCTCTTGGAGATCAGAATGAACCCGTTGTTGTCGATGACGAAGCAGTCCAGATCCTGGGAGGAAACCCAGAAGGGAGGTTATGCCAGGGCCCTCACCCACCCTGGTCCTCCAG 1810229 1810399 1810388 1810389 1810389 upstr_intron -49 -0.8135593 CTGGAGGACCAGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC mutant NA NA NA NA NA 357 171 0.9961327 0.999074 0.9976033 NA NA 0.9927097 0.9780629 NA NA 0.003422969 0.02101106 NA 0.9853863 NA 0.01221701 NA FALSE NA 0 0.035 . intron_variant&non_coding_transcript_variant MODIFIER CACNA2D4 HGNC 20202 ENST00000589502 2/5 1 NA CCG C,T 8.27e-06 12:1810389 CACNA2D4 HGNC Symbol protein_coding 126879 ENSG00000151062 ENSE00003674794 intron_variant 0.326728 0.1967 0.08932 0.074388 0.5554361 0.0688538 4.571685e-22 FALSE 8.46367e-06 ENSE00001774139_BRK ENSE00001774139 BRK 12 1919396 1919565 - 48 63 59 A,G; T,T NA NA NA CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCTTGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGCCGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC 1810229 1810399 NA NA NA NA NA NA CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCTTGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGCCGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC CTGGAGGACCGGGGTGGGTGAGGGCCCTGGCATAACCTCCCTTCTGGGTTTCCTCCCAGGATCTGGACTGCTTCGTCATCGACAACAACGGGTTCATTCTGATCTCCAAGAGGTCCCGAGAGGTGAGTCACTGGGGATATAGAATGAGGGGGAGAGGGCGGCAGGAGGAC control NA NA NA NA NA 32 244 0 0 0 NA NA 0.9927097 0.9780629 NA NA -0.9927097 -0.9780629 NA 0.9853863 NA -0.9853863 NA TRUE NA NA NA NA NA NA CACNA2D4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CACNA2D4 NA NA NA ENSG00000151062 ENSE00003674794 NA NA NA NA NA NA NA 4.571685e-22 FALSE NA ENSE00001774521_000 ENSE00001774521 000 10 62029859 62030028 - 30 99 41 NA NA NA NA NA CTGGAAAGCTGCAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACGCCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG 60270100 60270270 NA NA NA NA NA NA CTGGAAAGCTGCAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACGCCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG CTGGAAAGCTGCAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACGCCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG natural 21 20 0.9812351 0.9871992 0.9842171 2930 1445 0.9939625 0.9942887 0.9941256 0.9812351 0.9871992 0.9939625 0.9942887 0 0 0 0 0.9842171 0.9941256 0 0 0 FALSE FALSE NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00002505030 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001774521_013 ENSE00001774521 013 10 62029859 62030028 - 30 99 41 C T 62029976 1089 53 CTGGAAAGCTGCAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACACCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG 60270100 60270270 60270217 60270218 60270218 exon 12 0.1212121 CTGGAAAGCTGCAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACACCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG CTGGAAAGCTGCAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACGCCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG mutant NA NA NA NA NA 77 13 0.9649444 0.95 0.9574722 0.9812351 0.9871992 0.9939625 0.9942887 NA NA -0.0290181 -0.04428875 0.9842171 0.9941256 NA -0.03665342 NA FALSE NA 0 -3.435 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 6/44 1 NA GCG C,T 2.471e-05 10:60270218 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002505030 synonymous_variant 1.92003 0.32377 0.02614 0.638212 0.5597786 0 1 TRUE 2.22977e-05 ENSE00001774521_019 ENSE00001774521 019 10 62029859 62030028 - 30 99 41 C T 62030018 1095 11 CTGGAAAGCTACAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACGCCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG 60270100 60270270 60270259 60270260 60270260 upstr_intron -31 -0.7317073 CTGGAAAGCTACAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACGCCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG CTGGAAAGCTGCAGACAAACATTTTTTTTCTTATTTTGCAGAATGGTTTCACGCCATTGTATATGGCAGCCCAGGAAAATCACCTGGAAGTTGTCAAGTTTCTTCTTGACAATGGTGCAAGCCAGAGCCTAGCCACAGAGGTAAGATACTGTTTTTTTCCTGTGGGTGAG mutant NA NA NA NA NA 52 179 1 0.9997871 0.9998936 0.9812351 0.9871992 0.9939625 0.9942887 NA NA 0.006037503 0.005498363 0.9842171 0.9941256 NA 0.005767933 NA FALSE NA 0 -0.236 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 5/43 1 NA GCA C,T 8.247e-06 10:60270260 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002505030 intron_variant 0.383729 0.13089 0.00717 0.061011 0.6932548 0.0443366 1 TRUE NA ENSE00001775517_000 ENSE00001775517 000 22 39137458 39137627 - 41 78 51 NA NA NA NA NA AGGACCCAGTCACAGGCCCTGAGTGCCGCAAGCCCGCTGACCTGGGAGGCCCGGACGATCTTCTTGAAGAGGTCTTCTGAGTCTTGCTGATGCTCTGCTCTCAGGGCAGACAGTTCTTCCTGTGAGACGGGAGTGAGAGGACAGGTTGGACAGAGCCATGCTTATAGGGA 38741452 38741622 NA NA NA NA NA NA TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT natural 15 14 0.9987633 0.9927101 0.9957367 97 784 0.9664572 0.7976902 0.8820737 0.9987633 0.9927101 0.9664572 0.7976902 0 0 0 0 0.9957367 0.8820737 0 0 0 FALSE FALSE NA NA NA NA NA SUN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SUN2 NA NA NA ENSG00000100242 ENSE00003553989 NA NA NA NA NA NA NA 2.408332e-07 FALSE NA ENSE00001775629_000 ENSE00001775629 000 9 135517341 135517510 - 50 60 60 NA NA NA NA NA GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 NA NA NA NA NA NA GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG natural 436 407 0.9913433 0.9925841 0.9919637 7332 9549 0.9581592 0.885732 0.9219456 0.9913433 0.9925841 0.9581592 0.885732 0 0 0 0 0.9919637 0.9219456 0 0 0 FALSE FALSE NA NA NA NA NA DDX31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX31 NA NA NA ENSG00000125485 ENSE00001775629 NA NA NA NA NA NA NA 2.755757e-06 FALSE NA ENSE00001775629_001 ENSE00001775629 001 9 135517341 135517510 - 50 60 60 T C 135517355 3232 156 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATGCATTTCTGTGATGG 132641953 132642123 132641967 132641968 132641968 downstr_intron 36 1.734694 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATGCATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 401 76 0.9998973 1 0.9999487 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04173816 0.114268 0.9919637 0.9219456 NA 0.07800309 NA FALSE NA 0 0.132 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 14/19 1 NA GTA T,C 8.236e-06 9:132641968 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 intron_variant 0.068526 0.10155 0.02498 0.156188 0.4431923 0.0518458 2.755757e-06 FALSE 4.0661e-06 ENSE00001775629_003 ENSE00001775629 003 9 135517341 135517510 - 50 60 60 C T 135517386 3234 125 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACATATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132641998 132641999 132641999 downstr_intron 5 1.102041 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACATATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 22 18 0.9981142 0.9263167 0.9622155 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.03995507 0.04058475 0.9919637 0.9219456 NA 0.04026991 NA FALSE NA 1 5.792 rs190283632 splice_region_variant&intron_variant LOW DDX31 HGNC 16715 ENST00000372159 14/19 rs190283632 1 T:0.0008 T:0 T:0 NA T:0.004 T:0 T:0 ACG C,T 4.942e-05 9:132641999 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 splice_region_variant 2.11938 0.99017 0.99334 0.156188 0.8954701 0.974891 2.755757e-06 FALSE 3.24936e-05 ENSE00001775629_006 ENSE00001775629 006 9 135517341 135517510 - 50 60 60 C G 135517395 3237 116 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTCCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642007 132642008 132642008 exon -5 0.9333333 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTCCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 298 360 1 1 1 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04184083 0.114268 0.9919637 0.9219456 NA 0.07805443 NA FALSE NA 1 6.026 rs144782120 missense_variant MODERATE DDX31 HGNC 16715 ENST00000372159 14/20 rs144782120 1 tolerated(0.06) probably_damaging(0.98) G:0.0014 G:0.0053 G:0 NA G:0 G:0 G:0 G:0.0041 G:0 GCA C,G 0.00028 9:132642008 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 missense_variant 5.313101 0.9923 0.98812 0.67177 0.9929652 0 2.755757e-06 FALSE 0.000243679 ENSE00001775629_008 ENSE00001775629 008 9 135517341 135517510 - 50 60 60 C T 135517405 3239 106 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCATCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642017 132642018 132642018 exon -15 0.7666667 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCATCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 218 97 0.9984799 0.9706025 0.9845412 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04032075 0.08487049 0.9919637 0.9219456 NA 0.06259562 NA FALSE NA 0.017 -1.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:132642018 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 missense_variant 2.321964 0.51147 0.04576 0.706548 0.8469909 0 2.755757e-06 FALSE 9.34109e-05 ENSE00001775629_009 ENSE00001775629 009 9 135517341 135517510 - 50 60 60 C G 135517405 3240 106 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCCTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642017 132642018 132642018 exon -15 0.7666667 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCCTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 98 359 1 0.9945031 0.9972516 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04184083 0.1087711 0.9919637 0.9219456 NA 0.07530599 NA FALSE NA 0.017 -1.24 NA NA NA DDX31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX31 NA NA NA ENSG00000125485 ENSE00001775629 missense_variant 4.023513 0.56871 0.21158 0.706548 0.9814108 0 2.755757e-06 FALSE 1.2184e-05 ENSE00001775629_010 ENSE00001775629 010 9 135517341 135517510 - 50 60 60 G A 135517406 3241 105 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGTGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642018 132642019 132642019 exon -16 0.75 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGTGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 43 373 0.9679499 0.9995758 0.9837628 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.009790687 0.1138438 0.9919637 0.9219456 NA 0.06181723 NA FALSE NA 0.86 1.018 . synonymous_variant LOW DDX31 HGNC 16715 ENST00000372159 14/20 1 NA CGC G,A 6.589e-05 9:132642019 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 synonymous_variant 2.153565 0.84049 0.74316 0.706548 0.6871895 0 2.755757e-06 FALSE 4.46737e-05 ENSE00001775629_011 ENSE00001775629 011 9 135517341 135517510 - 50 60 60 T C 135517419 3242 92 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACGTTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642031 132642032 132642032 exon -29 0.5333333 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACGTTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 129 452 0.9954463 0.9969893 0.9962178 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.03728715 0.1112573 0.9919637 0.9219456 NA 0.07427224 NA FALSE NA 0 -0.446 . missense_variant MODERATE DDX31 HGNC 16715 ENST00000372159 14/20 1 tolerated(0.58) benign(0.006) NA ATG T,C 8.236e-06 9:132642032 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 missense_variant -0.073388 0.2309 0.09404 0.706548 0.7513895 0 2.755757e-06 FALSE 4.06144e-06 ENSE00001775629_012 ENSE00001775629 012 9 135517341 135517510 - 50 60 60 T C 135517427 3243 84 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAGTTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642039 132642040 132642040 exon 24 0.4 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAGTTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 34 115 0.95 1 0.975 0.9913433 0.9925841 0.9581592 0.885732 NA NA -0.008159166 0.114268 0.9919637 0.9219456 NA 0.05305443 NA FALSE NA 0.984 0.052 . synonymous_variant LOW DDX31 HGNC 16715 ENST00000372159 14/20 1 NA ATT T,C 8.236e-06 9:132642040 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 synonymous_variant 0.937583 0.95735 0.58563 0.706548 0.636563 0 2.755757e-06 FALSE 4.06141e-06 ENSE00001775629_014 ENSE00001775629 014 9 135517341 135517510 - 50 60 60 A G 135517455 3245 56 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTCGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642067 132642068 132642068 upstr_intron -5 -0.06666667 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTCGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 730 290 0.9996047 0.9998687 0.9997367 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04144554 0.1141367 0.9919637 0.9219456 NA 0.07779111 NA FALSE NA 0.721 2.335 . splice_region_variant&intron_variant LOW DDX31 HGNC 16715 ENST00000372159 13/19 rs370070427 1 NA G:0 G:0.0001 CAA A,G 8.236e-06 9:132642068 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 splice_region_variant 1.551766 0.52153 0.48029 0.099367 0.9067151 0.835069 2.755757e-06 FALSE 8.13134e-06 ENSE00001775629_016 ENSE00001775629 016 9 135517341 135517510 - 50 60 60 A G 135517467 3247 44 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTCTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642079 132642080 132642080 upstr_intron -17 -0.2666667 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTCTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 47 79 1 0.9979928 0.9989964 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04184083 0.1122608 0.9919637 0.9219456 NA 0.07705081 NA FALSE NA 0.032 1.233 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 13/19 1 NA AAA A,G 8.236e-06 9:132642080 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 intron_variant 1.264623 0.29799 0.15936 0.099367 0.8387109 0.289973 2.755757e-06 FALSE 4.06937e-06 ENSE00001775629_017 ENSE00001775629 017 9 135517341 135517510 - 50 60 60 G C 135517472 3248 39 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTGTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642084 132642085 132642085 upstr_intron -22 -0.35 GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTGTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 109 311 1 0.9964984 0.9982492 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04184083 0.1107664 0.9919637 0.9219456 NA 0.07630361 NA FALSE NA 0 0.095 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 13/19 1 NA AGA G,C 5.765e-05 9:132642085 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 intron_variant 0.563202 0.24565 0.0564 0.099367 0.7295899 0.245553 2.755757e-06 FALSE 0.000101893 ENSE00001775629_019 ENSE00001775629 019 9 135517341 135517510 - 50 60 60 A G 135517481 3250 30 GCCTACCTTGCTGGAGTTTGTCTCTGAGTCGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642093 132642094 132642094 upstr_intron -31 -0.5 GCCTACCTTGCTGGAGTTTGTCTCTGAGTCGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 203 404 1 0.9932929 0.9966464 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04184083 0.1075609 0.9919637 0.9219456 NA 0.07470087 NA FALSE NA 0 0.124 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 13/19 1 NA CAA A,G 8.236e-06 9:132642094 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 intron_variant 1.219747 0.28468 0.14672 0.099367 0.862233 0.119696 2.755757e-06 FALSE NA ENSE00001775629_021 ENSE00001775629 021 9 135517341 135517510 - 50 60 60 G A 135517500 3252 11 GCCTACCTTGTTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 132642112 132642113 132642113 upstr_intron -50 -0.8166667 GCCTACCTTGTTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG mutant NA NA NA NA NA 113 23 1 0.9859928 0.9929964 0.9913433 0.9925841 0.9581592 0.885732 NA NA 0.04184083 0.1002608 0.9919637 0.9219456 NA 0.07105084 NA FALSE NA 0.001 0.284 . intron_variant MODIFIER DDX31 HGNC 16715 ENST00000372159 13/19 1 NA AGC G,A 2.471e-05 9:132642113 DDX31 HGNC Symbol protein_coding 77404 ENSG00000125485 ENSE00001775629 intron_variant 1.83514 0.22997 0.07061 0.062308 0.7625426 0.0851235 2.755757e-06 FALSE 2.501e-05 ENSE00001775629_BRK ENSE00001775629 BRK 9 135517341 135517510 - 50 60 60 A,G; T,T NA NA NA GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTTTGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGCCACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG 132641953 132642123 NA NA NA NA NA NA GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTTTGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGCCACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG GCCTACCTTGCTGGAGTTTGTCTCTGAGTTGTAAGGCTCTATTTTTCCTTGTTTTTGTAGGAAAGAACAGCAGTGTTTCAGGAATTTTCACATTCCAGAAGAGGCGTCCTTCTTTGCACGGTACGTATCCTCCTGTGTTCCATGTGAAGGCTGATACATTTCTGTGATGG control 193 312 0 0 0 456 195 0.162863 0 0.08143148 0.9913433 0.9925841 0.9581592 0.885732 -0.9913433 -0.9925841 -0.7952962 -0.885732 0.9919637 0.9219456 -0.9919637 -0.8405141 0.1514496 TRUE TRUE NA NA NA NA NA DDX31 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DDX31 NA NA NA ENSG00000125485 ENSE00001775629 NA NA NA NA NA NA NA 2.755757e-06 FALSE NA ENSE00001776040_000 ENSE00001776040 000 X 41089712 41089881 + 42 96 32 NA NA NA NA NA GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC 41230458 41230628 NA NA NA NA NA NA GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC natural NA NA NA NA NA 408 1183 0.8866873 0.9637404 0.9252138 NA NA 0.8866873 0.9637404 NA NA 0 0 NA 0.9252138 NA 0 NA FALSE NA NA NA NA NA NA RP5-1172N10.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA USP9X NA NA NA ENSG00000124486 ENSE00003568838 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001776040_002 ENSE00001776040 002 X 41089712 41089881 + 42 96 32 C G 41089734 345 23 GTTTGCCTACGTAATTTTTTATGTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC 41230458 41230628 41230480 41230481 41230481 upstr_intron -20 -0.452381 GTTTGCCTACGTAATTTTTTATGTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC mutant NA NA NA NA NA 22 780 1 1 1 NA NA 0.8866873 0.9637404 NA NA 0.1133127 0.03625963 NA 0.9252138 NA 0.07478617 NA FALSE NA 0 -1.809 . upstream_gene_variant MODIFIER RP5-1172N10.4 Clone_based_vega_gene NA ENST00000602481 1 NA TCT C,G 8.262e-06 X:41230481 USP9X HGNC Symbol protein_coding 150944 ENSG00000124486 ENSE00003568838 intron_variant 0.70025 0.24242 0.0915 0 0.624544 0.0810385 1 TRUE 5.79294e-06 ENSE00001776040_004 ENSE00001776040 004 X 41089712 41089881 + 42 96 32 T C 41089743 347 32 GTTTGCCTACGTAATTTTTTATCTTGAAATACTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC 41230458 41230628 41230489 41230490 41230490 upstr_intron -11 -0.2380952 GTTTGCCTACGTAATTTTTTATCTTGAAATACTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC mutant NA NA NA NA NA 438 80 1 0.9980179 0.999009 NA NA 0.8866873 0.9637404 NA NA 0.1133127 0.03427755 NA 0.9252138 NA 0.07379513 NA FALSE NA 0.13 2.441 . upstream_gene_variant MODIFIER RP5-1172N10.4 Clone_based_vega_gene NA ENST00000602481 1 NA ATT T,C 1.652e-05 X:41230490 USP9X HGNC Symbol protein_coding 150944 ENSG00000124486 ENSE00003568838 intron_variant 2.364391 0.43027 0.53422 0 0.904065 0.700738 1 TRUE 5.73529e-06 ENSE00001776040_005 ENSE00001776040 005 X 41089712 41089881 + 42 96 32 C T 41089758 348 47 GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCTAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC 41230458 41230628 41230504 41230505 41230505 exon 5 0.05208333 GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCTAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC mutant NA NA NA NA NA 234 31 0.9951526 1 0.9975763 NA NA 0.8866873 0.9637404 NA NA 0.1084653 0.03625963 NA 0.9252138 NA 0.07236246 NA FALSE NA 1 5.342 . upstream_gene_variant MODIFIER RP5-1172N10.4 Clone_based_vega_gene NA ENST00000602481 rs372495933 1 NA T:0.0003 T:0 CCA C,T 2.477e-05 X:41230505 USP9X HGNC Symbol protein_coding 150944 ENSG00000124486 ENSE00003568838 missense_variant 7.323489 0.99465 0.98529 0 0.9971263 0 1 TRUE 5.66072e-06 ENSE00001776040_007 ENSE00001776040 007 X 41089712 41089881 + 42 96 32 T A 41089771 350 60 GGGGATAAAAGCATAAACTGACTCCTGTTTACCTGTTGATACTGAGATCCAGGTGAATGGGGGTACAATGGGGCATCTTCAGGTGGAGGCGACTCATGTTCATCTGGAGCTTCTTGGTCATCTGGCTCCTAATTTTGAATATTTCAAGATAAAAAATTACGTAGGCAAAC 41230458 41230628 41230517 41230518 41230518 exon 18 0.1875 GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGAAGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC mutant NA NA NA NA NA 100 137 0.9723308 1 0.9861654 NA NA 0.8866873 0.9637404 NA NA 0.08564348 0.03625963 NA 0.9252138 NA 0.06095155 NA FALSE NA 1 1.051 . upstream_gene_variant MODIFIER RP5-1172N10.4 Clone_based_vega_gene NA ENST00000602481 rs376510144 1 NA A:0 A:0.0001 ATG T,A 8.251e-06 X:41230518 USP9X HGNC Symbol protein_coding 150944 ENSG00000124486 ENSE00003568838 missense_variant 1.748598 0.96878 0.87068 0 0.9542699 0 1 TRUE 5.63612e-06 ENSE00001776040_009 ENSE00001776040 009 X 41089712 41089881 + 42 96 32 C T 41089793 352 82 GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGTCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC 41230458 41230628 41230539 41230540 41230540 exon 40 0.4166667 GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGTCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC mutant NA NA NA NA NA 383 877 1 0.9975323 0.9987661 NA NA 0.8866873 0.9637404 NA NA 0.1133127 0.03379192 NA 0.9252138 NA 0.07355231 NA FALSE NA 1 5.584 . upstream_gene_variant MODIFIER RP5-1172N10.4 Clone_based_vega_gene NA ENST00000602481 1 NA GCC C,T 1.65e-05 X:41230540 USP9X HGNC Symbol protein_coding 150944 ENSG00000124486 ENSE00003568838 missense_variant 3.164327 0.98199 0.81356 0 0.6141302 0 1 TRUE 5.61019e-06 ENSE00001776040_012 ENSE00001776040 012 X 41089712 41089881 + 42 96 32 A C 41089839 355 128 GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCCGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC 41230458 41230628 41230585 41230586 41230586 exon -11 0.8958333 GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCCGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC GTTTGCCTACGTAATTTTTTATCTTGAAATATTCAAAATTAGGAGCCAGATGACCAAGATGCTCCAGATGAACATGAGTCGCCTCCACCTGAAGATGCCCCATTGTACCCCCATTCACCTGGATCTCAGTATCAACAGGTAAACAGGAGTCAGTTTATGCTTTTATCCCC mutant NA NA NA NA NA 483 65 1 1 1 NA NA 0.8866873 0.9637404 NA NA 0.1133127 0.03625963 NA 0.9252138 NA 0.07478617 NA FALSE NA 1 8.576 . upstream_gene_variant MODIFIER RP5-1172N10.4 Clone_based_vega_gene NA ENST00000602481 1 NA CAG A,C 8.25e-06 X:41230586 USP9X HGNC Symbol protein_coding 150944 ENSG00000124486 ENSE00003568838 missense_variant 2.69194 0.99057 0.99089 0 0.9788326 0 1 TRUE NA ENSE00001776240_000 ENSE00001776240 000 1 33836577 33836746 - 41 78 51 NA NA NA NA NA TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 NA NA NA NA NA NA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA natural NA NA NA NA NA 534 879 0.985891 0.938738 0.9623145 NA NA 0.985891 0.938738 NA NA 0 0 NA 0.9623145 NA 0 NA FALSE NA NA NA NA NA NA PHC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHC2 NA NA NA ENSG00000134686 ENSE00003461575 NA NA NA NA NA NA NA 0.205656 FALSE NA ENSE00001776240_001 ENSE00001776240 001 1 33836577 33836746 - 41 78 51 G A 33836587 1172 160 TGGGGCTGTGAACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33370985 33370986 33370986 downstr_intron 31 1.775 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTTCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 299 73 0.9910503 0.9692957 0.980173 NA NA 0.985891 0.938738 NA NA 0.005159311 0.03055767 NA 0.9623145 NA 0.01785849 NA FALSE NA 0.027 1.813 . intron_variant MODIFIER PHC2 HGNC 3183 ENST00000431992 3/12 rs374657594 1 NA A:0.0002 A:0 GGA G,A 8.236e-06 1:33370986 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 intron_variant 0.426885 0.19153 0.01724 0.06567 0.6616014 0.122122 0.205656 FALSE NA ENSE00001776240_002 ENSE00001776240 002 1 33836577 33836746 - 41 78 51 T A 33836590 1173 157 TGGGGCTGTGGACACTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33370988 33370989 33370989 downstr_intron 28 1.7 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGTGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 427 27 0.9985453 1 0.9992726 NA NA 0.985891 0.938738 NA NA 0.0126543 0.06126198 NA 0.9623145 NA 0.03695814 NA FALSE NA 0 -1.244 . intron_variant MODIFIER PHC2 HGNC 3183 ENST00000431992 3/12 1 NA CTC T,A 3.295e-05 1:33370989 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 intron_variant 0.938415 0.14804 0.04407 0.06567 0.7586827 0.122122 0.205656 FALSE 1.62602e-05 ENSE00001776240_004 ENSE00001776240 004 1 33836577 33836746 - 41 78 51 C G 33836606 1175 141 TGGGGCTGTGGACTCTGCTGCTGCTCCCCGATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371004 33371005 33371005 downstr_intron 12 1.3 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATCGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 320 10 0.9975306 1 0.9987653 NA NA 0.985891 0.938738 NA NA 0.01163959 0.06126198 NA 0.9623145 NA 0.03645079 NA FALSE NA 0 -0.745 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:33371005 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 intron_variant 0.429671 0.16612 0.03984 0.055872 0.4645385 0.118391 0.205656 FALSE 8.12486e-06 ENSE00001776240_005 ENSE00001776240 005 1 33836577 33836746 - 41 78 51 C T 33836606 1176 141 TGGGGCTGTGGACTCTGCTGCTGCTCCCCTATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371004 33371005 33371005 downstr_intron 12 1.3 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATAGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant 23 65 0.85 0.85 0.85 738 18 0.8515827 0.8138476 0.8327152 NA NA 0.985891 0.938738 NA NA -0.1343083 -0.1248904 NA 0.9623145 NA -0.1295993 NA FALSE NA 0 -0.745 NA NA NA PHC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHC2 NA NA NA ENSG00000134686 ENSE00003461575 intron_variant 0.626964 0.15078 0.00916 0.055872 0.5250467 0.118391 0.205656 FALSE 4.06243e-06 ENSE00001776240_006 ENSE00001776240 006 1 33836577 33836746 - 41 78 51 G A 33836619 1177 128 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCAAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371017 33371018 33371018 exon -2 0.9871795 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTTGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 529 133 0.9678582 0.9928233 0.9803407 NA NA 0.985891 0.938738 NA NA -0.0180328 0.05408527 NA 0.9623145 NA 0.01802624 NA FALSE NA 1 5.319 . missense_variant&splice_region_variant MODERATE PHC2 HGNC 3183 ENST00000431992 3/13 1 probably_damaging(0.996) NA CGA G,A 1.647e-05 1:33371018 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 missense_variant 6.617904 0.981 0.97407 0.615465 0.9992224 0 0.205656 FALSE 2.03061e-05 ENSE00001776240_010 ENSE00001776240 010 1 33836577 33836746 - 41 78 51 C T 33836639 1181 108 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCTTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371037 33371038 33371038 exon -22 0.7307692 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAAGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 492 405 0.934158 0.9963393 0.9652487 NA NA 0.985891 0.938738 NA NA -0.05173296 0.05760131 NA 0.9623145 NA 0.002934172 NA FALSE NA 1 2.745 . synonymous_variant LOW PHC2 HGNC 3183 ENST00000431992 3/13 rs574627581 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCT C,T 7.413e-05 1:33371038 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 synonymous_variant 1.191223 0.98053 0.84237 0.615465 0.7120415 0 0.205656 FALSE 4.87282e-05 ENSE00001776240_012 ENSE00001776240 012 1 33836577 33836746 - 41 78 51 C T 33836642 1183 105 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGTGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371040 33371041 33371041 exon -25 0.6923077 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCACAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 35 129 0.9489845 0.9586334 0.953809 NA NA 0.985891 0.938738 NA NA -0.03690647 0.01989543 NA 0.9623145 NA -0.008505519 NA FALSE NA 0.064 -1.049 rs150111238 synonymous_variant LOW PHC2 HGNC 3183 ENST00000431992 3/13 rs150111238&COSM681068 1 T:0.0010 T:0.0023 T:0.0014 NA T:0.001 T:0 T:0 T:0.0005 T:0 GCG C,T 5.765e-05 1:33371041 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 synonymous_variant 1.701775 0.11481 0.00372 0.615465 0.4844165 0 0.205656 FALSE 6.09127e-05 ENSE00001776240_013 ENSE00001776240 013 1 33836577 33836746 - 41 78 51 G A 33836643 1184 104 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCACAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371041 33371042 33371042 exon -26 0.6794872 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGTGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 148 397 0.9770912 0.9670819 0.9720866 NA NA 0.985891 0.938738 NA NA -0.008799748 0.02834392 NA 0.9623145 NA 0.009772084 NA FALSE NA 0.185 3.381 . missense_variant MODERATE PHC2 HGNC 3183 ENST00000431992 3/13 COSM2078770 1 benign(0.199) NA CGC G,A 7.413e-05 1:33371042 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 missense_variant 2.332948 0.49789 0.22273 0.615465 0.9953065 0 0.205656 FALSE 6.09117e-05 ENSE00001776240_016 ENSE00001776240 016 1 33836577 33836746 - 41 78 51 A G 33836651 1187 96 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACGTTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371049 33371050 33371050 exon -34 0.5769231 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAACGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 526 53 1 1 1 NA NA 0.985891 0.938738 NA NA 0.01410901 0.06126198 NA 0.9623145 NA 0.03768549 NA FALSE NA 0.666 0.99 . synonymous_variant LOW PHC2 HGNC 3183 ENST00000431992 3/13 1 NA CAT A,G 8.236e-06 1:33371050 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 synonymous_variant -0.739069 0.85944 0.40676 0.615465 0.37063 0 0.205656 FALSE 1.62423e-05 ENSE00001776240_018 ENSE00001776240 018 1 33836577 33836746 - 41 78 51 A T 33836662 1189 85 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGTAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371060 33371061 33371061 exon 34 0.4358974 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTACAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 119 15 1 0.986217 0.9931085 NA NA 0.985891 0.938738 NA NA 0.01410901 0.047479 NA 0.9623145 NA 0.030794 NA FALSE NA 0.582 1.264 . missense_variant MODERATE PHC2 HGNC 3183 ENST00000431992 3/13 1 benign(0.133) NA GAA A,T 8.236e-06 1:33371061 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 missense_variant -0.826524 0.16773 0.18702 0.615465 0.825926 0 0.205656 FALSE 8.12123e-06 ENSE00001776240_020 ENSE00001776240 020 1 33836577 33836746 - 41 78 51 T C 33836679 1191 68 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTACTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGACCTCCCCCAGTCAC 33370975 33371145 33371077 33371078 33371078 exon 17 0.2179487 GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAGTAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 197 43 1 1 1 NA NA 0.985891 0.938738 NA NA 0.01410901 0.06126198 NA 0.9623145 NA 0.03768549 NA FALSE NA 1 0.317 . missense_variant MODERATE PHC2 HGNC 3183 ENST00000431992 3/13 1 benign(0.007) NA ATT T,C 1.647e-05 1:33371078 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 missense_variant 0.897965 0.95243 0.62765 0.533608 0.9709093 0 0.205656 FALSE 4.06075e-05 ENSE00001776240_023 ENSE00001776240 023 1 33836577 33836746 - 41 78 51 C A 33836728 1194 19 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCACAGACCTCCCCCAGTCAC 33370975 33371145 33371126 33371127 33371127 upstr_intron -33 -0.627451 GTGACTGGGGGAGGTCTGTGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 469 272 0.9327939 0.7969003 0.8648471 NA NA 0.985891 0.938738 NA NA -0.05309713 -0.1418377 NA 0.9623145 NA -0.09746742 NA FALSE NA 0 -0.195 NA NA NA PHC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:33371127 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 intron_variant 0.28207 0.20149 0.10646 0.055872 0.5299932 0.0474092 0.205656 FALSE 5.28963e-05 ENSE00001776240_025 ENSE00001776240 025 1 33836577 33836746 - 41 78 51 A G 33836730 1196 17 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCGGACCTCCCCCAGTCAC 33370975 33371145 33371128 33371129 33371129 upstr_intron -35 -0.6666667 GTGACTGGGGGAGGTCCGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 830 55 0.9353344 0.8796299 0.9074821 NA NA 0.985891 0.938738 NA NA -0.0505566 -0.05910811 NA 0.9623145 NA -0.05483236 NA FALSE NA 0.007 0.53 . intron_variant MODIFIER PHC2 HGNC 3183 ENST00000431992 2/12 1 NA CAG A,G 8.236e-06 1:33371129 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 intron_variant 0.3427 0.2368 0.09179 0.055872 0.7412011 0.0474092 0.205656 FALSE 4.06825e-06 ENSE00001776240_026 ENSE00001776240 026 1 33836577 33836746 - 41 78 51 A T 33836732 1197 15 TGGGGCTGTGGACTCTGCTGCTGCTCCCCCATTCTACTCACCGAAGATGACTGGGCCGGGGCCTGCGCAGACACATTGCTGCCTGAAGTGCTTCCTTGTCTATTGGATACCAGGCTTGCCTAGGAAAGAACAAACTCCTCTTGCTAGAGTCCCAGTCCTCCCCCAGTCAC 33370975 33371145 33371130 33371131 33371131 upstr_intron -37 -0.7058824 GTGACTGGGGGAGGACTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA GTGACTGGGGGAGGTCTGGGACTCTAGCAAGAGGAGTTTGTTCTTTCCTAGGCAAGCCTGGTATCCAATAGACAAGGAAGCACTTCAGGCAGCAATGTGTCTGCGCAGGCCCCGGCCCAGTCATCTTCGGTGAGTAGAATGGGGGAGCAGCAGCAGAGTCCACAGCCCCA mutant NA NA NA NA NA 1213 10 0.9113328 0.9344766 0.9229047 NA NA 0.985891 0.938738 NA NA -0.07455817 -0.004261429 NA 0.9623145 NA -0.0394098 NA FALSE NA 0 -0.802 rs149948967 intron_variant MODIFIER PHC2 HGNC 3183 ENST00000431992 2/12 rs149948967 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GAC A,T 0.0001812 1:33371131 PHC2 HGNC Symbol protein_coding 107429 ENSG00000134686 ENSE00003461575 intron_variant 0.0964 0.15755 0.02403 0.055872 0.6575456 0.0474092 0.205656 FALSE 0.000179179 ENSE00001776272_000 ENSE00001776272 000 10 27494073 27494242 - 54 51 65 NA NA NA NA NA GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 NA NA NA NA NA NA GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT natural 20 10 1 0.9714646 0.9857323 2656 2568 0.983313 0.8480746 0.9156938 1 0.9714646 0.983313 0.8480746 0 0 0 0 0.9857323 0.9156938 0 0 0 FALSE FALSE NA NA NA NA NA ACBD5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACBD5 NA NA NA ENSG00000107897 ENSE00003607295 NA NA NA NA NA NA NA 0.06164569 FALSE NA ENSE00001776272_003 ENSE00001776272 003 10 27494073 27494242 - 54 51 65 C A 27494093 673 150 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGTTTTCATATGTTTTTTGTTGT 27205143 27205313 27205163 27205164 27205164 downstr_intron 34 1.641509 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGTTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 70 525 1 1 1 1 0.9714646 0.983313 0.8480746 NA NA 0.01668699 0.1519254 0.9857323 0.9156938 NA 0.08430617 NA FALSE NA 0.002 -0.866 . intron_variant MODIFIER ACBD5 HGNC 23338 ENST00000375905 11/12 1 NA ACC C,A 8.237e-06 10:27205164 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 intron_variant 0.054934 0.09337 0.00907 0.106106 0.756385 0.0455939 0.06164569 FALSE 8.18331e-06 ENSE00001776272_006 ENSE00001776272 006 10 27494073 27494242 - 54 51 65 A G 27494100 676 143 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAACGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205170 27205171 27205171 downstr_intron 27 1.509434 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAACGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 168 13 1 1 1 1 0.9714646 0.983313 0.8480746 NA NA 0.01668699 0.1519254 0.9857323 0.9156938 NA 0.08430617 NA FALSE NA 0.001 0.802 . intron_variant MODIFIER ACBD5 HGNC 23338 ENST00000375905 11/12 1 NA CAT A,G 8.237e-06 10:27205171 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 intron_variant 0.138473 0.18904 0.01139 0.163922 0.6086131 0.0448725 0.06164569 FALSE 4.0819e-06 ENSE00001776272_009 ENSE00001776272 009 10 27494073 27494242 - 54 51 65 A G 27494104 679 139 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTCAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205174 27205175 27205175 downstr_intron 23 1.433962 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTCAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 512 146 0.9997006 1 0.9998503 1 0.9714646 0.983313 0.8480746 NA NA 0.01638756 0.1519254 0.9857323 0.9156938 NA 0.08415646 NA FALSE NA 0.003 1.766 . intron_variant MODIFIER ACBD5 HGNC 23338 ENST00000375905 11/12 rs370878059 1 NA G:0.0005 G:0.0005 TAA A,G 0.0002059 10:27205175 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 intron_variant 0.016804 0.15105 0.13549 0.163922 0.3868613 0.0448725 0.06164569 FALSE 0.000203935 ENSE00001776272_010 ENSE00001776272 010 10 27494073 27494242 - 54 51 65 T A 27494112 680 131 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTTAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205182 27205183 27205183 downstr_intron 15 1.283019 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTTAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 830 403 0.8721461 0.9590436 0.9155949 1 0.9714646 0.983313 0.8480746 NA NA -0.1111669 0.110969 0.9857323 0.9156938 NA -9.894019e-05 NA FALSE NA 0.001 -1.348 . intron_variant MODIFIER ACBD5 HGNC 23338 ENST00000375905 11/12 1 NA TTA T,A 8.236e-06 10:27205183 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 intron_variant -0.899779 0.05102 0.00083 0.163922 0.1470864 0.0448725 0.06164569 FALSE 1.22178e-05 ENSE00001776272_011 ENSE00001776272 011 10 27494073 27494242 - 54 51 65 A T 27494113 681 130 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTAAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205183 27205184 27205184 downstr_intron 14 1.264151 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTAAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant 10 18 0.9509201 0.9453616 0.9481408 549 265 1 0.9998563 0.9999281 1 0.9714646 0.983313 0.8480746 -0.04907992 -0.02610299 0.01668699 0.1517816 0.9857323 0.9156938 -0.03759145 0.0842343 0.1218258 FALSE FALSE 0.039 -0.014 . intron_variant MODIFIER ACBD5 HGNC 23338 ENST00000375905 11/12 rs547731619 1 T:0.0004 T:0.0008 T:0 NA T:0 T:0.001 T:0 TAA A,T 4.942e-05 10:27205184 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 intron_variant -0.199931 0.15129 0.0205 0.163922 0.4252224 0.0448725 0.06164569 FALSE 4.07256e-05 ENSE00001776272_013 ENSE00001776272 013 10 27494073 27494242 - 54 51 65 G T 27494144 683 99 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTACTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205214 27205215 27205215 exon -18 0.6666667 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTACTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 45 110 0.9884824 0.9868349 0.9876587 1 0.9714646 0.983313 0.8480746 NA NA 0.00516936 0.1387603 0.9857323 0.9156938 NA 0.07196483 NA FALSE NA 0.004 0.611 . missense_variant MODERATE ACBD5 HGNC 23338 ENST00000375905 11/13 1 tolerated(0.41) benign(0) NA GGA G,T 1.647e-05 10:27205215 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 missense_variant -1.288792 0.09302 0.00084 0.732398 0.1554277 0 0.06164569 FALSE 1.6257e-05 ENSE00001776272_014 ENSE00001776272 014 10 27494073 27494242 - 54 51 65 G A 27494146 684 97 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGTTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205216 27205217 27205217 exon -20 0.627451 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGTTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 398 14 0.9991251 1 0.9995626 1 0.9714646 0.983313 0.8480746 NA NA 0.01581214 0.1519254 0.9857323 0.9156938 NA 0.08386874 NA FALSE NA 0.005 0.267 . missense_variant MODERATE ACBD5 HGNC 23338 ENST00000375905 11/13 rs368092255 1 tolerated(0.16) benign(0) NA A:0 A:0.0001 AGC G,A 8.236e-06 10:27205217 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 missense_variant 0.81784 0.19024 0.04579 0.732398 0.8208995 0 0.06164569 FALSE NA ENSE00001776272_015 ENSE00001776272 015 10 27494073 27494242 - 54 51 65 C A 27494147 685 96 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTTCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205217 27205218 27205218 exon -21 0.6078431 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTTCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 296 73 1 0.9732523 0.9866262 1 0.9714646 0.983313 0.8480746 NA NA 0.01668699 0.1251777 0.9857323 0.9156938 NA 0.07093234 NA FALSE NA 0.007 0.308 NA NA NA ACBD5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:27205218 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 missense_variant -0.884249 0.21314 0.03745 0.732398 0.09127412 0 0.06164569 FALSE 0.000117862 ENSE00001776272_018 ENSE00001776272 018 10 27494073 27494242 - 54 51 65 T C 27494169 688 74 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCGTCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205239 27205240 27205240 exon 9 0.1764706 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCGTCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 971 84 0.8734295 0.9909003 0.9321649 1 0.9714646 0.983313 0.8480746 NA NA -0.1098835 0.1428256 0.9857323 0.9156938 NA 0.01647109 NA FALSE NA 0.836 -0.782 . synonymous_variant LOW ACBD5 HGNC 23338 ENST00000375905 11/13 1 NA ATG C,C 2.471e-05 10:27205240 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 synonymous_variant -0.488419 0.82006 0.30138 0.732398 0.3677832 0 0.06164569 FALSE 8.12632e-06 ENSE00001776272_019 ENSE00001776272 019 10 27494073 27494242 - 54 51 65 A C 27494171 689 72 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAAGCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205241 27205242 27205242 exon 7 0.1372549 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAAGCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 16 228 0.8776842 1 0.9388421 1 0.9714646 0.983313 0.8480746 NA NA -0.1056288 0.1519254 0.9857323 0.9156938 NA 0.02314825 NA FALSE NA 0.992 1.74 . missense_variant MODERATE ACBD5 HGNC 23338 ENST00000375905 11/13 1 tolerated(0.11) benign(0.005) NA GAT A,C 4.942e-05 10:27205242 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 missense_variant 1.586366 0.97117 0.87574 0.732398 0.9120876 0 0.06164569 FALSE 3.65657e-05 ENSE00001776272_021 ENSE00001776272 021 10 27494073 27494242 - 54 51 65 G A 27494196 691 47 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCATCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT 27205143 27205313 27205266 27205267 27205267 upstr_intron -19 -0.2769231 GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCATCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT GAAATAGAATAATTACTGTGTTTTTCATTTTTTCAAGGCTAAGTCACCTTCATTTGCATTTACAGGCAAAATCATCAACATCAACATTGCAGACTGCTCCTCAGCCCACCTCACAGGTAAGACATTTTTTAAAAAATTTAAATGCCAGGGTTTCATATGTTTTTTGTTGT mutant NA NA NA NA NA 773 411 0.9995733 1 0.9997867 1 0.9714646 0.983313 0.8480746 NA NA 0.0162603 0.1519254 0.9857323 0.9156938 NA 0.08409283 NA FALSE NA 0.016 0.187 . intron_variant MODIFIER ACBD5 HGNC 23338 ENST00000375905 10/12 1 NA GGT G,A 6.589e-05 10:27205267 ACBD5 HGNC Symbol protein_coding 46916 ENSG00000107897 ENSE00003607295 intron_variant 0.504433 0.2441 0.04014 0.088506 0.5476974 0.112627 0.06164569 FALSE 6.09464e-05 ENSE00001776409_000 ENSE00001776409 000 9 131349841 131350010 + 44 93 33 NA NA NA NA NA GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 NA NA NA NA NA NA GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG natural 237 117 0.7834194 0.8706735 0.8270465 1652 3401 0.8900565 0.9817594 0.9359079 0.7834194 0.8706735 0.8900565 0.9817594 0 0 0 0 0.8270465 0.9359079 0 0 0 FALSE FALSE NA NA NA NA NA SPTAN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTAN1 NA NA NA ENSG00000197694 ENSE00001776409 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001776409_001 ENSE00001776409 001 9 131349841 131350010 + 44 93 33 C T 131349851 2780 11 GCTTCAGCCCTTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587571 128587572 128587572 upstr_intron -34 -0.75 GCTTCAGCCCTTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 3028 1065 0.9953181 0.9549892 0.9751537 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.1052616 -0.02677017 0.8270465 0.9359079 NA 0.03924573 NA FALSE NA 0 -0.011 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 19/56 1 NA CCT C,T 8.236e-06 9:128587572 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.09632 0.18388 0.02811 0.298561 0.5737243 0.0743947 1 TRUE 4.06762e-06 ENSE00001776409_003 ENSE00001776409 003 9 131349841 131350010 + 44 93 33 C G 131349856 2782 16 GCTTCAGCCCCTGCAGAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587576 128587577 128587577 upstr_intron -29 -0.6363636 GCTTCAGCCCCTGCAGAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 56 915 1 0.9970775 0.9985388 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.1099435 0.0153181 0.8270465 0.9359079 NA 0.06263081 NA FALSE NA 0 0.068 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 19/56 1 NA ACA C,G 8.236e-06 9:128587577 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant -0.021471 0.20742 0.21795 0.298561 0.7335955 0.0743947 1 TRUE 4.06521e-06 ENSE00001776409_004 ENSE00001776409 004 9 131349841 131350010 + 44 93 33 T A 131349862 2783 22 GCTTCAGCCCCTGCACAGTGCACCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587582 128587583 128587583 upstr_intron -23 -0.5 GCTTCAGCCCCTGCACAGTGCACCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 2162 276 0.8871504 0.8686848 0.8779176 0.7834194 0.8706735 0.8900565 0.9817594 NA NA -0.002906033 -0.1130746 0.8270465 0.9359079 NA -0.0579903 NA FALSE NA 0.149 0.313 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 19/56 1 NA CTC T,A 1.647e-05 9:128587583 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.758006 0.12919 0.09693 0.298561 0.8044468 0.0743947 1 TRUE 8.12757e-06 ENSE00001776409_005 ENSE00001776409 005 9 131349841 131350010 + 44 93 33 A G 131349865 2784 25 GCTTCAGCCCCTGCACAGTGCTCCGTGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587585 128587586 128587586 upstr_intron -20 -0.4318182 GCTTCAGCCCCTGCACAGTGCTCCGTGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 723 497 0.8003609 0.8 0.8001804 0.7834194 0.8706735 0.8900565 0.9817594 NA NA -0.08969559 -0.1817594 0.8270465 0.9359079 NA -0.1357275 NA FALSE NA 0 -0.481 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:128587586 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.614195 0.23153 0.04632 0.298561 0.7215074 0.116877 1 TRUE NA ENSE00001776409_006 ENSE00001776409 006 9 131349841 131350010 + 44 93 33 A T 131349865 2785 25 GCTTCAGCCCCTGCACAGTGCTCCTTGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587585 128587586 128587586 upstr_intron -20 -0.4318182 GCTTCAGCCCCTGCACAGTGCTCCTTGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 1111 397 0.9251164 0.9255044 0.9253104 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.03505995 -0.05625504 0.8270465 0.9359079 NA -0.01059754 NA FALSE NA 0 -0.481 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00001776409 intron_variant 0.524786 0.24019 0.05106 0.298561 0.72388 0.116877 4.676361e-13 FALSE 4.06336e-06 ENSE00001776409_007 ENSE00001776409 007 9 131349841 131350010 + 44 93 33 A C 131349865 2786 25 GCTTCAGCCCCTGCACAGTGCTCCCTGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587585 128587586 128587586 upstr_intron -20 -0.4318182 GCTTCAGCCCCTGCACAGTGCTCCCTGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 664 856 0.8043593 0.7025571 0.7534582 0.7834194 0.8706735 0.8900565 0.9817594 NA NA -0.08569713 -0.2792023 0.8270465 0.9359079 NA -0.1824497 NA FALSE NA 0 -0.481 NA NA NA SPTAN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTAN1 NA NA NA ENSG00000197694 ENSE00001776409 intron_variant 0.440455 0.25003 0.05806 0.298561 0.7115242 0.116877 1 TRUE 1.21901e-05 ENSE00001776409_008 ENSE00001776409 008 9 131349841 131350010 + 44 93 33 T C 131349866 2787 26 GCTTCAGCCCCTGCACAGTGCTCCACGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587586 128587587 128587587 upstr_intron -19 -0.4090909 GCTTCAGCCCCTGCACAGTGCTCCACGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 1372 389 0.8114802 0.8 0.8057401 0.7834194 0.8706735 0.8900565 0.9817594 NA NA -0.07857631 -0.1817594 0.8270465 0.9359079 NA -0.1301679 NA FALSE NA 0.008 0.252 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 19/56 rs373016934 1 NA C:0 C:0.0001 ATG T,C 8.236e-06 9:128587587 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.107372 0.22246 0.074 0.298561 0.4930855 0.0743947 1 TRUE 4.06336e-06 ENSE00001776409_009 ENSE00001776409 009 9 131349841 131350010 + 44 93 33 G A 131349867 2788 27 GCTTCAGCCCCTGCACAGTGCTCCATATGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587587 128587588 128587588 upstr_intron -18 -0.3863636 GCTTCAGCCCCTGCACAGTGCTCCATATGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 225 303 0.9967188 0.992504 0.9946114 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.1066623 0.01074458 0.8270465 0.9359079 NA 0.05870343 NA FALSE NA 0.036 1.125 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 19/56 1 NA TGT G,A 6.589e-05 9:128587588 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.989931 0.25065 0.13584 0.298561 0.6603748 0.179275 1 TRUE 5.68884e-05 ENSE00001776409_010 ENSE00001776409 010 9 131349841 131350010 + 44 93 33 G A 131349869 2789 29 GCTTCAGCCCCTGCACAGTGCTCCATGTATGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587589 128587590 128587590 upstr_intron -16 -0.3409091 GCTTCAGCCCCTGCACAGTGCTCCATGTATGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 721 263 0.9857909 0.9805484 0.9831697 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.09573446 -0.001211002 0.8270465 0.9359079 NA 0.04726173 NA FALSE NA 0.047 0.433 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 19/56 1 NA TGT G,A 8.236e-06 9:128587590 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 1.455975 0.23693 0.14345 0.298561 0.7207157 0.219661 1 TRUE 8.12638e-06 ENSE00001776409_011 ENSE00001776409 011 9 131349841 131350010 + 44 93 33 C T 131349902 2790 62 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACATGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587622 128587623 128587623 exon 18 0.1935484 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACATGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 1378 158 0.9724024 0.9740844 0.9732434 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.08234597 -0.007675045 0.8270465 0.9359079 NA 0.03733546 NA FALSE NA 0.331 -0.392 . synonymous_variant LOW SPTAN1 HGNC 11273 ENST00000372739 20/57 1 NA ACG C,T 8.236e-06 9:128587623 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 synonymous_variant 2.073648 0.74602 0.19636 0.706548 0.5725976 0 1 TRUE 1.625e-05 ENSE00001776409_013 ENSE00001776409 013 9 131349841 131350010 + 44 93 33 A G 131349912 2792 72 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGGTGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587632 128587633 128587633 exon 28 0.3010753 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGGTGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 361 162 0.9668386 0.9768632 0.9718509 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.07678211 -0.004896206 0.8270465 0.9359079 NA 0.03594295 NA FALSE NA 1 5.619 . missense_variant MODERATE SPTAN1 HGNC 11273 ENST00000372739 20/57 1 tolerated(0.15) benign(0.155) NA GAT A,G 1.647e-05 9:128587633 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 missense_variant 2.171284 0.98853 0.9853 0.706548 0.9249126 0 1 TRUE 1.21875e-05 ENSE00001776409_014 ENSE00001776409 014 9 131349841 131350010 + 44 93 33 T C 131349926 2793 86 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGCGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587646 128587647 128587647 exon 42 0.4516129 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGCGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 73 43 1 1 1 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.1099435 0.01824059 0.8270465 0.9359079 NA 0.06409206 NA FALSE NA 0 -2.699 . synonymous_variant LOW SPTAN1 HGNC 11273 ENST00000372739 20/57 1 NA GTG T,C 8.236e-06 9:128587647 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 synonymous_variant 1.048621 0.1975 0.03753 0.706548 0.6178914 0 1 TRUE 4.0624e-06 ENSE00001776409_015 ENSE00001776409 015 9 131349841 131350010 + 44 93 33 C T 131349928 2794 88 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGTCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587648 128587649 128587649 exon 44 0.4731183 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGTCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 1164 193 0.9980391 1 0.9990195 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.1079826 0.01824059 0.8270465 0.9359079 NA 0.0631116 NA FALSE NA 1 7.231 . missense_variant MODERATE SPTAN1 HGNC 11273 ENST00000372739 20/57 1 deleterious(0.03) probably_damaging(0.991) NA GCC C,T 8.236e-06 9:128587649 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 missense_variant 7.248245 0.98885 0.98448 0.706548 0.9993275 0 1 TRUE 4.06243e-06 ENSE00001776409_017 ENSE00001776409 017 9 131349841 131350010 + 44 93 33 G A 131349933 2796 93 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACAGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587653 128587654 128587654 exon -45 0.5268817 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACAGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 2226 927 0.9954001 0.9961456 0.9957728 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.1053436 0.01438616 0.8270465 0.9359079 NA 0.05986488 NA FALSE NA 1 9.151 . missense_variant MODERATE SPTAN1 HGNC 11273 ENST00000372739 20/57 COSM1105658&COSM1598020 1 deleterious(0.05) benign(0.248) NA CGG G,A 8.236e-06 9:128587654 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 missense_variant 4.501608 0.98904 0.99103 0.706548 0.9968759 0 1 TRUE 4.06246e-06 ENSE00001776409_018 ENSE00001776409 018 9 131349841 131350010 + 44 93 33 G C 131349940 2797 100 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCACCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587660 128587661 128587661 exon -38 0.6021505 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCACCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 2485 2013 0.9421468 0.9495366 0.9458417 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.0520903 -0.03222284 0.8270465 0.9359079 NA 0.00993373 NA FALSE NA 1 9.151 . missense_variant MODERATE SPTAN1 HGNC 11273 ENST00000372739 20/57 1 tolerated(0.65) benign(0.076) NA AGC G,C 8.236e-06 9:128587661 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 missense_variant 1.927482 0.98912 0.99316 0.706548 0.9297262 0 1 TRUE 8.12552e-06 ENSE00001776409_019 ENSE00001776409 019 9 131349841 131350010 + 44 93 33 G A 131349955 2798 115 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCAAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587675 128587676 128587676 exon -23 0.7634409 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCAAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 80 190 0.9828793 0.9977658 0.9903226 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.0928228 0.01600641 0.8270465 0.9359079 NA 0.05441461 NA FALSE NA 1 6.627 . missense_variant MODERATE SPTAN1 HGNC 11273 ENST00000372739 20/57 1 tolerated(0.18) benign(0.056) NA CGA G,A 8.236e-06 9:128587676 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 missense_variant 4.462716 0.98624 0.97 0.706548 0.9988746 0 1 TRUE NA ENSE00001776409_020 ENSE00001776409 020 9 131349841 131350010 + 44 93 33 C T 131349975 2799 135 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCTGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587695 128587696 128587696 exon -3 0.9784946 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCTGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 1415 636 0.9024879 0.9676303 0.9350591 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.01243144 -0.01412908 0.8270465 0.9359079 NA -0.0008488216 NA FALSE NA 1 6.132 . missense_variant&splice_region_variant MODERATE SPTAN1 HGNC 11273 ENST00000372739 20/57 1 deleterious(0) probably_damaging(0.992) NA CCG C,T 8.236e-06 9:128587696 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 missense_variant 8.053044 0.97754 0.94739 0.706548 0.9991842 0 1 TRUE 4.06451e-06 ENSE00001776409_021 ENSE00001776409 021 9 131349841 131350010 + 44 93 33 G C 131349976 2800 136 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCCGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587696 128587697 128587697 exon -2 0.9892473 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCCGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 244 410 0.9568033 0.9490716 0.9529374 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.06674684 -0.03268786 0.8270465 0.9359079 NA 0.01702949 NA FALSE NA 1 9.151 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:128587697 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 missense_variant 7.400847 0.98918 0.99244 0.706548 0.9977372 0 1 TRUE 4.06507e-06 ENSE00001776409_022 ENSE00001776409 022 9 131349841 131350010 + 44 93 33 G A 131349976 2801 136 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCAGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587696 128587697 128587697 exon -2 0.9892473 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCAGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 325 2617 0.9791435 0.9064421 0.9427928 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.089087 -0.07531736 0.8270465 0.9359079 NA 0.00688482 NA FALSE NA 1 9.151 NA NA NA SPTAN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTAN1 NA NA NA ENSG00000197694 ENSE00001776409 missense_variant 5.120918 0.98938 0.99151 0.706548 0.9940435 0 1 TRUE 8.13015e-06 ENSE00001776409_023 ENSE00001776409 023 9 131349841 131350010 + 44 93 33 G A 131349986 2802 146 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTATAACAGTTTATGGGTTACTGGAGG 128587561 128587731 128587706 128587707 128587707 downstr_intron 9 1.28125 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTATAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 171 328 0.9821176 1 0.9910588 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.09206111 0.01824059 0.8270465 0.9359079 NA 0.05515085 NA FALSE NA 0 -1.251 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 20/56 1 NA TGT G,A 8.236e-06 9:128587707 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.849401 0.42298 0.04036 0.062308 0.700193 0.0507968 1 TRUE 6.0987e-05 ENSE00001776409_025 ENSE00001776409 025 9 131349841 131350010 + 44 93 33 G A 131349992 2804 152 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAATTTATGGGTTACTGGAGG 128587561 128587731 128587712 128587713 128587713 downstr_intron 15 1.46875 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAATTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 747 334 1 1 1 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.1099435 0.01824059 0.8270465 0.9359079 NA 0.06409206 NA FALSE NA 0 0.646 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 20/56 1 NA AGT G,A 8.236e-06 9:128587713 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.21865 0.28996 0.1176 0.062308 0.3358146 0.536755 1 TRUE 4.06832e-06 ENSE00001776409_026 ENSE00001776409 026 9 131349841 131350010 + 44 93 33 A G 131349996 2805 156 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTGTGGGTTACTGGAGG 128587561 128587731 128587716 128587717 128587717 downstr_intron 19 1.59375 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTGTGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 814 537 0.8300783 0.9871398 0.9086091 0.7834194 0.8706735 0.8900565 0.9817594 NA NA -0.05997814 0.005380403 0.8270465 0.9359079 NA -0.02729887 NA FALSE NA 0 -1.004 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 20/56 1 NA TAT A,G 8.236e-06 9:128587717 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.082013 0.1873 0.01258 0.062308 0.4039128 0.0507968 1 TRUE 4.07007e-06 ENSE00001776409_027 ENSE00001776409 027 9 131349841 131350010 + 44 93 33 G A 131350000 2806 160 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGATTACTGGAGG 128587561 128587731 128587720 128587721 128587721 downstr_intron 23 1.71875 GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGATTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG mutant NA NA NA NA NA 729 679 0.9770521 0.9615547 0.9693034 0.7834194 0.8706735 0.8900565 0.9817594 NA NA 0.08699564 -0.02020471 0.8270465 0.9359079 NA 0.03339546 NA FALSE NA 0.001 0.617 . intron_variant MODIFIER SPTAN1 HGNC 11273 ENST00000372739 20/56 1 NA GGT G,A 8.236e-06 9:128587721 SPTAN1 HGNC Symbol protein_coding 81104 ENSG00000197694 ENSE00001776409 intron_variant 0.109602 0.24433 0.00397 0.062308 0.6331637 0.0507968 1 TRUE 4.07634e-06 ENSE00001776409_BRK ENSE00001776409 BRK 9 131349841 131350010 + 44 93 33 A,G; T,T NA NA NA GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCTTGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGCCAAACTTGTAACAGTTTATGGGTTACTGGAGG 128587561 128587731 NA NA NA NA NA NA GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCTTGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGCCAAACTTGTAACAGTTTATGGGTTACTGGAGG GCTTCAGCCCCTGCACAGTGCTCCATGTGTGGTTTTGGTTTCAGGCTCTACTGAAGAAACACGAAGCTTTGATGTCAGATCTCAGTGCCTACGGCAGCAGCATCCAGGCTTTGCGAGAACAAGCACAGTCCTGCCGGGTAAACTTGTAACAGTTTATGGGTTACTGGAGG control 292 261 0.02678177 0.02260385 0.02469281 4284 556 0.003382718 0.0029796 0.003181159 0.7834194 0.8706735 0.8900565 0.9817594 -0.7566376 -0.8480697 -0.8866738 -0.9787798 0.8270465 0.9359079 -0.8023537 -0.9327268 0.1303731 TRUE TRUE NA NA NA NA NA SPTAN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPTAN1 NA NA NA ENSG00000197694 ENSE00001776409 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001776970_000 ENSE00001776970 000 8 23116204 23116373 + 41 99 30 NA NA NA NA NA TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 NA NA NA NA NA NA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA natural 144 109 0.8461842 0.819673 0.8329286 3605 2583 0.937963 0.957719 0.947841 0.8461842 0.819673 0.937963 0.957719 0 0 0 0 0.8329286 0.947841 0 0 0 FALSE FALSE NA NA NA NA NA CHMP7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHMP7 NA NA NA ENSG00000147457 ENSE00003652944 NA NA NA NA NA NA NA 0.98074 TRUE NA ENSE00001776970_001 ENSE00001776970 001 8 23116204 23116373 + 41 99 30 T G 23116217 290 14 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCCAATGACAGACATT 23258690 23258860 23258703 23258704 23258704 upstr_intron -28 -0.6585366 AATGTCTGTCATTGGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 198 856 0.8161551 0.8030384 0.8095968 0.8461842 0.819673 0.937963 0.957719 NA NA -0.1218078 -0.1546806 0.8329286 0.947841 NA -0.1382442 NA FALSE NA 0 0.042 . intron_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 4/6 1 NA TTG T,G 8.237e-06 8:23258704 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 intron_variant 0.34832 0.23243 0.13526 0.156188 0.6671558 0.16171 0.98074 TRUE 4.13746e-06 ENSE00001776970_003 ENSE00001776970 003 8 23116204 23116373 + 41 99 30 T C 23116222 292 19 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCGGTGCAAATGACAGACATT 23258690 23258860 23258708 23258709 23258709 upstr_intron -23 -0.5365854 AATGTCTGTCATTTGCACCGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 263 658 0.05038749 0.0005558682 0.02547168 0.8461842 0.819673 0.937963 0.957719 NA NA -0.8875755 -0.9571632 0.8329286 0.947841 NA -0.9223693 NA TRUE NA 0 -0.518 . intron_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 4/6 1 NA CTG T,C 8.237e-06 8:23258709 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 intron_variant 0.326279 0.23023 0.08749 0.156188 0.658678 0.223845 0.98074 TRUE 4.1133e-06 ENSE00001776970_004 ENSE00001776970 004 8 23116204 23116373 + 41 99 30 G A 23116227 293 24 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGTTATCAGTGCAAATGACAGACATT 23258690 23258860 23258713 23258714 23258714 upstr_intron -18 -0.4146341 AATGTCTGTCATTTGCACTGATAACTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 374 141 0.9994797 1 0.9997398 0.8461842 0.819673 0.937963 0.957719 NA NA 0.06151668 0.04228097 0.8329286 0.947841 NA 0.05189883 NA FALSE NA 0 -0.242 . intron_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 4/6 rs200633457 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGC G,A 0.0001071 8:23258714 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 intron_variant 0.044854 0.13965 0.00654 0.156188 0.451743 0.243297 0.98074 TRUE 0.000110767 ENSE00001776970_006 ENSE00001776970 006 8 23116204 23116373 + 41 99 30 A T 23116251 295 48 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTAAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258737 23258738 23258738 exon 7 0.07070707 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTTACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 381 13 0.9404029 0.9482106 0.9443067 0.8461842 0.819673 0.937963 0.957719 NA NA 0.002439873 -0.009508447 0.8329286 0.947841 NA -0.003534287 NA FALSE NA 1 2.843 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 5/7 1 NA TAA A,T 1.647e-05 8:23258738 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 missense_variant 5.438742 0.98057 0.90928 0.719381 0.9904004 0 0.98074 TRUE 1.22061e-05 ENSE00001776970_009 ENSE00001776970 009 8 23116204 23116373 + 41 99 30 C T 23116289 298 86 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATAGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258775 23258776 23258776 exon 45 0.4545455 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCTATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 226 310 0.8025758 0.8745359 0.8385559 0.8461842 0.819673 0.937963 0.957719 NA NA -0.1353872 -0.08318312 0.8329286 0.947841 NA -0.1092851 NA FALSE NA 0.983 0.145 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 5/7 1 NA CCA C,T 2.471e-05 8:23258776 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 synonymous_variant 1.910714 0.97792 0.8519 0.719381 0.7611763 0 0.98074 TRUE 1.62528e-05 ENSE00001776970_010 ENSE00001776970 010 8 23116204 23116373 + 41 99 30 A T 23116290 299 87 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCAAGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258776 23258777 23258777 exon 46 0.4646465 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCTTGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 1294 331 0.949548 0.9522649 0.9509065 0.8461842 0.819673 0.937963 0.957719 NA NA 0.01158501 -0.005454126 0.8329286 0.947841 NA 0.003065442 NA FALSE NA 1 4.171 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 5/7 1 NA CAT A,T 8.236e-06 8:23258777 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 missense_variant 1.458157 0.98801 0.94844 0.719381 0.7581511 0 0.98074 TRUE 8.12605e-06 ENSE00001776970_014 ENSE00001776970 014 8 23116204 23116373 + 41 99 30 T C 23116331 303 128 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTGGATCTGGTCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258817 23258818 23258818 exon -13 0.8787879 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGACCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 448 537 0.996907 0.9989298 0.9979184 0.8461842 0.819673 0.937963 0.957719 NA NA 0.05894405 0.0412108 0.8329286 0.947841 NA 0.05007742 NA FALSE NA 1 1.919 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 5/7 1 NA ATC T,C 8.237e-06 8:23258818 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 synonymous_variant 0.389896 0.97392 0.95381 0.719381 0.6317824 0 0.98074 TRUE 4.07967e-06 ENSE00001776970_016 ENSE00001776970 016 8 23116204 23116373 + 41 99 30 C A 23116338 305 135 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCTTTGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258824 23258825 23258825 exon -6 0.9494949 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCAAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 39 400 1 1 1 0.8461842 0.819673 0.937963 0.957719 NA NA 0.06203701 0.04228097 0.8329286 0.947841 NA 0.05215899 NA FALSE NA 1 7.293 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 5/7 1 NA CCA C,A 1.647e-05 8:23258825 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 missense_variant 5.807057 0.99468 0.99746 0.719381 0.9928328 0 0.98074 TRUE 4.09551e-06 ENSE00001776970_017 ENSE00001776970 017 8 23116204 23116373 + 41 99 30 A G 23116340 306 137 TGTGTGTCCCTCCCTGGCCCCTTTCTGTACCTCCTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258826 23258827 23258827 exon -4 0.969697 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAGGAGGTACAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 18 315 0.95 0.9589818 0.9544909 0.8461842 0.819673 0.937963 0.957719 NA NA 0.01203701 0.001262795 0.8329286 0.947841 NA 0.006649904 NA FALSE NA 0.98 0.182 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 5/7 rs572610523 1 NA AAG A,G 0.00014 8:23258827 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 synonymous_variant 0.198032 0.95925 0.58834 0.719381 0.4593927 0 0.98074 TRUE 0.000126893 ENSE00001776970_018 ENSE00001776970 018 8 23116204 23116373 + 41 99 30 C A 23116347 307 144 TGTGTGTCCCTCCCTGGCCCCTTTCTTTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258833 23258834 23258834 downstr_intron 4 1.137931 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTAAAGAAAGGGGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 222 162 1 1 1 0.8461842 0.819673 0.937963 0.957719 NA NA 0.06203701 0.04228097 0.8329286 0.947841 NA 0.05215899 NA FALSE NA 0.003 0.058 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CHMP7 HGNC 28439 ENST00000523091 5/6 1 NA ACA C,A 4.942e-05 8:23258834 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 splice_region_variant 1.522489 0.55128 0.17992 0.099367 0.7883976 0.468372 0.98074 TRUE 4.52039e-05 ENSE00001776970_019 ENSE00001776970 019 8 23116204 23116373 + 41 99 30 G A 23116355 308 152 TGTGTGTCCCTCCCTGGCTCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258841 23258842 23258842 downstr_intron 12 1.413793 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGAGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 678 635 0.7596878 0.8 0.7798439 0.8461842 0.819673 0.937963 0.957719 NA NA -0.1782752 -0.157719 0.8329286 0.947841 NA -0.1679971 NA FALSE NA 0 0.391 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:23258842 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 intron_variant 1.850091 0.28751 0.02963 0.099367 0.8351552 0.397376 0.98074 TRUE 0.000240283 ENSE00001776970_020 ENSE00001776970 020 8 23116204 23116373 + 41 99 30 G T 23116355 309 152 TGTGTGTCCCTCCCTGGCACCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258841 23258842 23258842 downstr_intron 12 1.413793 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGTGCCAGGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 500 220 0.7278157 0.8018041 0.7648099 0.8461842 0.819673 0.937963 0.957719 NA NA -0.2101473 -0.155915 0.8329286 0.947841 NA -0.1830311 NA FALSE NA 0 0.391 NA NA NA CHMP7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHMP7 NA NA NA ENSG00000147457 ENSE00003652944 intron_variant 1.674445 0.26037 0.09128 0.099367 0.8153863 0.397376 0.98074 TRUE 1.65712e-05 ENSE00001776970_021 ENSE00001776970 021 8 23116204 23116373 + 41 99 30 G C 23116360 310 157 TGTGTGTCCCTCCGTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258846 23258847 23258847 downstr_intron 17 1.586207 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCACGGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 42 735 1 0.97386 0.98693 0.8461842 0.819673 0.937963 0.957719 NA NA 0.06203701 0.01614098 0.8329286 0.947841 NA 0.039089 NA FALSE NA 0.001 0.093 . intron_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 5/6 1 NA AGG G,C 8.237e-06 8:23258847 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 intron_variant 1.973375 0.33472 0.33382 0.099367 0.8641207 0.261789 0.98074 TRUE 4.15559e-06 ENSE00001776970_022 ENSE00001776970 022 8 23116204 23116373 + 41 99 30 G A 23116361 311 158 TGTGTGTCCCTCTCTGGCCCCTTTCTGTACCTCTTGGATCTGATCCACGAGGCTCTCTGCCTTCTCCACTGTGACATCCTTCATGGAGAGTTTGAGTGCTCCTACCCCAGCCTGGTAGGCGTTAAAAACCTAAAGACAAAGCAAAGCTATCAGTGCAAATGACAGACATT 23258690 23258860 23258847 23258848 23258848 downstr_intron 18 1.62069 AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGAGAGGGACACACA AATGTCTGTCATTTGCACTGATAGCTTTGCTTTGTCTTTAGGTTTTTAACGCCTACCAGGCTGGGGTAGGAGCACTCAAACTCTCCATGAAGGATGTCACAGTGGAGAAGGCAGAGAGCCTCGTGGATCAGATCCAAGAGGTACAGAAAGGGGCCAGGGAGGGACACACA mutant NA NA NA NA NA 214 792 0.7901014 0.8003646 0.795233 0.8461842 0.819673 0.937963 0.957719 NA NA -0.1478616 -0.1573544 0.8329286 0.947841 NA -0.152608 NA FALSE NA 0.002 0.568 . intron_variant&non_coding_transcript_variant MODIFIER CHMP7 HGNC 28439 ENST00000523091 5/6 1 NA GGG G,A 8.238e-06 8:23258848 CHMP7 HGNC Symbol protein_coding 18363 ENSG00000147457 ENSE00003652944 intron_variant 2.295889 0.29119 0.14971 0.099367 0.8936463 0.332525 0.98074 TRUE NA ENSE00001778245_000 ENSE00001778245 000 1 103467931 103468100 - 53 54 63 NA NA NA NA NA AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 NA NA NA NA NA NA GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT natural 92 65 0.9937552 0.9912657 0.9925104 3631 3565 0.9951821 0.8886445 0.9419133 0.9937552 0.9912657 0.9951821 0.8886445 0 0 0 0 0.9925104 0.9419133 0 0 0 FALSE FALSE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00003680678 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001778245_001 ENSE00001778245 001 1 103467931 103468100 - 53 54 63 C T 103467944 2930 157 AGATAGCATCTTCTCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002387 103002388 103002388 downstr_intron 40 1.769231 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGAGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant 27 55 0.9982881 0.9575439 0.977916 364 319 0.998978 1 0.999489 0.9937552 0.9912657 0.9951821 0.8886445 0.004532891 -0.03372177 0.003795863 0.1113555 0.9925104 0.9419133 -0.01459444 0.05757567 0.07217012 FALSE FALSE 0 -0.534 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 21/64 1 NA CCC C,T 2.48e-05 1:103002388 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant 0.29237 0.25864 0.06677 0.053691 0.4979084 0.0656782 0.9999806 TRUE 1.52105e-05 ENSE00001778245_002 ENSE00001778245 002 1 103467931 103468100 - 53 54 63 C A 103467945 2931 156 AGATAGCATCTTCCACCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002388 103002389 103002389 downstr_intron 39 1.75 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGTGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant NA NA NA NA NA 423 461 0.9999027 1 0.9999513 0.9937552 0.9912657 0.9951821 0.8886445 NA NA 0.00472053 0.1113555 0.9925104 0.9419133 NA 0.05803801 NA FALSE NA 0.003 1 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 21/64 rs536471371 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 CCC C,A 8.265e-05 1:103002389 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant 0.145362 0.23089 0.18619 0.053691 0.5853354 0.0656782 0.9999806 TRUE 3.0172e-05 ENSE00001778245_003 ENSE00001778245 003 1 103467931 103468100 - 53 54 63 T C 103467950 2932 151 AGATAGCATCTTCCCCCCACTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002393 103002394 103002394 downstr_intron 34 1.653846 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAGTGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant 38 26 0.9802874 0.9894268 0.9848571 NA NA NA NA NA 0.9937552 0.9912657 0.9951821 0.8886445 -0.01346778 -0.001838864 NA NA 0.9925104 0.9419133 -0.007653321 NA NA NA FALSE 0 0.135 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 21/64 1 NA ATT T,C 8.26e-06 1:103002394 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant 0.338812 0.25079 0.01152 0.053691 0.7597142 0.0957804 0.9999806 TRUE 4.87087e-06 ENSE00001778245_004 ENSE00001778245 004 1 103467931 103468100 - 53 54 63 G A 103467961 2933 140 AGATAGCATCTTCCCCCCATTATTTCAAAGAAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002404 103002405 103002405 downstr_intron 23 1.442308 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTTCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant 11 27 0.9935365 0.9939361 0.9937363 284 1188 0.9994189 0.9924708 0.9959449 0.9937552 0.9912657 0.9951821 0.8886445 -0.0002186248 0.002670346 0.004236788 0.1038263 0.9925104 0.9419133 0.00122586 0.05403153 0.05280567 FALSE FALSE 0.952 1.008 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 21/64 1 NA GGA G,A 8.249e-06 1:103002405 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant 0.577387 0.23243 0.10375 0.053691 0.7628885 0.0957804 0.9999806 TRUE NA ENSE00001778245_007 ENSE00001778245 007 1 103467931 103468100 - 53 54 63 C T 103467984 2936 117 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACTTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002427 103002428 103002428 exon -1 1 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAAGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant NA NA NA NA NA 354 578 1 0.9979324 0.9989662 0.9937552 0.9912657 0.9951821 0.8886445 NA NA 0.004817859 0.1092879 0.9925104 0.9419133 NA 0.05705288 NA FALSE NA 1 0.816 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:103002428 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 splice_region_variant 1.46468 0.9756 0.46866 0.706298 0.9119374 0 0.9999806 TRUE 4.23216e-06 ENSE00001778245_010 ENSE00001778245 010 1 103467931 103468100 - 53 54 63 T A 103468006 2939 95 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTAGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002449 103002450 103002450 exon -23 0.5925926 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCTACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant NA NA NA NA NA 141 665 1 0.8067973 0.9033987 0.9937552 0.9912657 0.9951821 0.8886445 NA NA 0.004817859 -0.08184719 0.9925104 0.9419133 NA -0.03851467 NA FALSE NA 1 7.422 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 21/65 rs573493137 1 possibly_damaging(0.775) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TTG T,A 8.239e-06 1:103002450 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 missense_variant 3.85971 0.99448 0.99027 0.706298 0.9966333 0 0.9999806 TRUE 4.17885e-06 ENSE00001778245_012 ENSE00001778245 012 1 103467931 103468100 - 53 54 63 T C 103468011 2941 90 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCCGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002454 103002455 103002455 exon 27 0.5 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCGGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant NA NA NA NA NA 179 972 0.9997699 1 0.9998849 0.9937552 0.9912657 0.9951821 0.8886445 NA NA 0.004587725 0.1113555 0.9925104 0.9419133 NA 0.05797161 NA FALSE NA 0.973 -0.03 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 21/65 1 NA CTG T,C 8.24e-06 1:103002455 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 synonymous_variant 0.592808 0.97535 0.76996 0.706298 0.7274165 0 0.9999806 TRUE NA ENSE00001778245_013 ENSE00001778245 013 1 103467931 103468100 - 53 54 63 G A 103468021 2942 80 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAAGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002464 103002465 103002465 exon 17 0.3148148 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCTTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant NA NA NA NA NA 732 25 0.9990403 1 0.9995202 0.9937552 0.9912657 0.9951821 0.8886445 NA NA 0.003858171 0.1113555 0.9925104 0.9419133 NA 0.05760683 NA FALSE NA 1 9.132 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 21/65 1 possibly_damaging(0.507) NA AGG G,A 4.12e-05 1:103002465 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 missense_variant 4.323234 0.99593 0.99345 0.706298 0.9981774 0 0.9999806 TRUE 2.10197e-05 ENSE00001778245_015 ENSE00001778245 015 1 103467931 103468100 - 53 54 63 G A 103468046 2944 55 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAAGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002489 103002490 103002490 upstr_intron -9 -0.1269841 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCTTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant 16 13 1 0.9568039 0.978402 NA NA NA NA NA 0.9937552 0.9912657 0.9951821 0.8886445 0.006244834 -0.03446177 NA NA 0.9925104 0.9419133 -0.01410847 NA NA NA FALSE 0.002 0.029 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 20/64 1 NA AGG G,A 8.257e-06 1:103002490 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant 0.550446 0.34608 0.01728 0.053691 0.5233987 0.105044 0.9999806 TRUE NA ENSE00001778245_017 ENSE00001778245 017 1 103467931 103468100 - 53 54 63 A G 103468055 2946 46 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATGAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002498 103002499 103002499 upstr_intron -18 -0.2698413 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTCATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant 38 23 1 1 1 NA NA NA NA NA 0.9937552 0.9912657 0.9951821 0.8886445 0.006244834 0.008734291 NA NA 0.9925104 0.9419133 0.007489563 NA NA NA FALSE 0.009 2.072 NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:103002499 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant -0.000785 0.53691 0.85987 0.053691 0.73293 0.625646 0.9999806 TRUE 1.38719e-05 ENSE00001778245_018 ENSE00001778245 018 1 103467931 103468100 - 53 54 63 A C 103468056 2947 45 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATACAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002499 103002500 103002500 upstr_intron -19 -0.2857143 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTGTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant NA NA NA NA NA 841 595 1 0.9983688 0.9991844 0.9937552 0.9912657 0.9951821 0.8886445 NA NA 0.004817859 0.1097243 0.9925104 0.9419133 NA 0.05727107 NA FALSE NA 0.001 0.71 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 20/64 1 NA AAA A,C 8.278e-06 1:103002500 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant -0.132115 0.24091 0.57199 0.053691 0.6004476 0.148241 0.9999806 TRUE 4.72371e-06 ENSE00001778245_019 ENSE00001778245 019 1 103467931 103468100 - 53 54 63 A C 103468057 2948 44 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAACAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002500 103002501 103002501 upstr_intron -20 -0.3015873 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTGTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant NA NA NA NA NA 498 205 0.995903 0.9948248 0.9953639 0.9937552 0.9912657 0.9951821 0.8886445 NA NA 0.000720869 0.1061803 0.9925104 0.9419133 NA 0.0534506 NA FALSE NA 0 5.018 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 20/64 rs373832939 1 NA C:0.0002 C:0 AAA A,C 8.278e-06 1:103002501 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant -0.204291 0.50113 0.94275 0.053691 0.7431659 0.63685 0.9999806 TRUE 4.71827e-06 ENSE00001778245_020 ENSE00001778245 020 1 103467931 103468100 - 53 54 63 G T 103468060 2949 41 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAATTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 103002503 103002504 103002504 upstr_intron -23 -0.3492063 GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAAATTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant 13 13 0.9971046 1 0.9985523 NA NA NA NA NA 0.9937552 0.9912657 0.9951821 0.8886445 0.003349464 0.008734291 NA NA 0.9925104 0.9419133 0.006041878 NA NA NA FALSE 0 0.047 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 20/64 1 NA AGT G,T 8.287e-06 1:103002504 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant -0.225498 0.27584 0.13878 0.053691 0.5760927 0.142991 0.9999806 TRUE NA ENSE00001778245_021 ENSE00001778245 021 1 103467931 103468100 - 53 54 63 A G 103468081 2950 20 AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTACCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCCTGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACGCAATAGATTTTTGTTCTTC 103002374 103002544 103002524 103002525 103002525 upstr_intron -44 -0.6825397 GAAGAACAAAAATCTATTGCGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT mutant NA NA NA NA NA 479 713 0.9971298 0.9971146 0.9971222 0.9937552 0.9912657 0.9951821 0.8886445 NA NA 0.00194768 0.1084701 0.9925104 0.9419133 NA 0.05520887 NA FALSE NA 0.037 3.052 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 20/64 rs549138501 1 NA CAC A,G 2.505e-05 1:103002525 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00003680678 intron_variant 0.409127 0.2398 0.04057 0.053691 0.7879631 0.0448725 0.9999806 TRUE 1.67014e-05 ENSE00001778245_BRK ENSE00001778245 BRK 1 103467931 103468100 - 53 54 63 A,G; T,T NA NA NA AGATAGCATCTTCCCCCCATTATTTCAAAGGAGCTGCAGTGGCTTAGACTTGGCTGAGGTCCTGGATTCCCTTGTTGACCTGGAGGCCCAGGCTCCCCTTGGGGACCAAGCCAGAGGAAAATATAAAAAGTTTTTAATGGGCTATATTACACAATAGATTTTTGTTCTTC 103002374 103002544 NA NA NA NA NA NA GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCTTGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGCCAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT GAAGAACAAAAATCTATTGTGTAATATAGCCCATTAAAAACTTTTTATATTTTCCTCTGGCAGGGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAGGTAAGTCTAAGCCACTGCAGCTCCTTTGAAATAATGGGGGGAAGATGCTATCT control 141 140 0 0 0 NA NA NA NA NA 0.9937552 0.9912657 0.9951821 0.8886445 -0.9937552 -0.9912657 NA NA 0.9925104 0.9419133 -0.9925104 NA NA NA TRUE NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00003680678 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001778284_000 ENSE00001778284 000 4 114120126 114120295 + 41 99 30 NA NA NA NA NA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 NA NA NA NA NA NA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA natural 551 896 0.8490046 0.8487602 0.8488824 2712 5214 0.915 0.9063738 0.9106869 0.8490046 0.8487602 0.915 0.9063738 0 0 0 0 0.8488824 0.9106869 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00003581650 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001778284_003 ENSE00001778284 003 4 114120126 114120295 + 41 99 30 A G 114120147 1312 22 CAGAAACCTTGAACATTTTCTGTTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 113198990 113198991 113198991 upstr_intron -20 -0.4634146 CAGAAACCTTGAACATTTTCTGTTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 13 168 0.8123246 0.8753542 0.8438394 0.8490046 0.8487602 0.915 0.9063738 NA NA -0.1026753 -0.03101969 0.8488824 0.9106869 NA -0.06684751 NA FALSE NA 0 -2.074 NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:113198991 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 intron_variant -0.284356 0.16863 0.03174 0.074636 0.2994015 0.0726195 1 TRUE 1.22196e-05 ENSE00001778284_005 ENSE00001778284 005 4 114120126 114120295 + 41 99 30 T C 114120149 1314 24 CAGAAACCTTGAACATTTTCTATCTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 113198992 113198993 113198993 upstr_intron -18 -0.4146341 CAGAAACCTTGAACATTTTCTATCTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 69 786 0.8 0.8108795 0.8054398 0.8490046 0.8487602 0.915 0.9063738 NA NA -0.115 -0.09549434 0.8488824 0.9106869 NA -0.1052471 NA FALSE NA 0.924 2.157 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 1 NA TTT T,C 1.647e-05 4:113198993 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 intron_variant 0.072328 0.43155 0.70333 0.074636 0.518179 0.0726195 1 TRUE 1.62897e-05 ENSE00001778284_007 ENSE00001778284 007 4 114120126 114120295 + 41 99 30 C T 114120178 1316 53 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACTGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 113199021 113199022 113199022 exon 12 0.1212121 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACTGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 248 13 0.8 0.8 0.8 0.8490046 0.8487602 0.915 0.9063738 NA NA -0.115 -0.1063738 0.8488824 0.9106869 NA -0.1106869 NA FALSE NA 0 -2.316 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 1 NA CCG C,T 8.236e-06 4:113199022 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 synonymous_variant 1.946555 0.19264 0.01195 0.693126 0.5162431 0 1 TRUE 1.22086e-05 ENSE00001778284_008 ENSE00001778284 008 4 114120126 114120295 + 41 99 30 A G 114120193 1317 68 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCGTCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 113199036 113199037 113199037 exon 27 0.2727273 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCGTCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 4020 382 0.9340224 0.9527514 0.9433869 0.8490046 0.8487602 0.915 0.9063738 NA NA 0.0190224 0.04637758 0.8488824 0.9106869 NA 0.03269999 NA FALSE NA 0.007 -1.087 NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:113199037 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 synonymous_variant 1.263001 0.92667 0.10704 0.693126 0.6581289 0 1 TRUE 2.03401e-05 ENSE00001778284_011 ENSE00001778284 011 4 114120126 114120295 + 41 99 30 T A 114120225 1320 100 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGATCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 113199068 113199069 113199069 exon -41 0.5959596 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGATCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 186 67 0.95 0.95 0.95 0.8490046 0.8487602 0.915 0.9063738 NA NA 0.03500004 0.04362615 0.8488824 0.9106869 NA 0.0393131 NA FALSE NA 1 7.443 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 COSM1567054 1 NA GTT T,A 8.237e-06 4:113199069 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 missense_variant 6.963322 0.99378 0.97773 0.693126 0.9775917 0 1 TRUE 4.06904e-06 ENSE00001778284_012 ENSE00001778284 012 4 114120126 114120295 + 41 99 30 T C 114120229 1321 104 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTCGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 113199072 113199073 113199073 exon -37 0.6363636 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTCGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 126 291 0.99052 1 0.99526 0.8490046 0.8487602 0.915 0.9063738 NA NA 0.07552002 0.09362615 0.8488824 0.9106869 NA 0.08457309 NA FALSE NA 0.476 -0.307 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 1 NA TTG T,C 8.237e-06 4:113199073 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 synonymous_variant 0.468072 0.96379 0.41249 0.693126 0.7701707 0 1 TRUE 4.06918e-06 ENSE00001778284_016 ENSE00001778284 016 4 114120126 114120295 + 41 99 30 A G 114120258 1325 133 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACGGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 113199101 113199102 113199102 exon -8 0.9292929 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACGGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 55 79 0.8029258 0.9990307 0.9009782 0.8490046 0.8487602 0.915 0.9063738 NA NA -0.1120742 0.09265683 0.8488824 0.9106869 NA -0.009708674 NA FALSE NA 1 8.656 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 1 NA CAG A,G 8.236e-06 4:113199102 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 missense_variant 5.851445 0.99387 0.98474 0.693126 0.9985439 0 1 TRUE 4.07196e-06 ENSE00001778284_018 ENSE00001778284 018 4 114120126 114120295 + 41 99 30 C A 114120261 1327 136 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTATCAGGTATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 113199104 113199105 113199105 exon -5 0.959596 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTATCAGGTATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 1747 271 0.9241015 0.9553159 0.9397087 0.8490046 0.8487602 0.915 0.9063738 NA NA 0.009101561 0.04894207 0.8488824 0.9106869 NA 0.02902182 NA FALSE NA 1 7.239 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 rs542795010 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TCT C,A 8.236e-06 4:113199105 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 missense_variant 6.901394 0.99553 0.98175 0.638212 0.9958467 0 1 TRUE 4.07236e-06 ENSE00001778284_019 ENSE00001778284 019 4 114120126 114120295 + 41 99 30 A G 114120277 1328 152 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCGGATTTTCCCTGATGTACA 113198969 113199139 113199120 113199121 113199121 downstr_intron 12 1.413793 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCGGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 214 55 0.9566525 0.9596898 0.9581712 0.8490046 0.8487602 0.915 0.9063738 NA NA 0.04165258 0.05331598 0.8488824 0.9106869 NA 0.04748428 NA FALSE NA 0 -0.703 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 1 NA CAG A,G 8.237e-06 4:113199121 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 intron_variant 0.627931 0.17173 0.04236 0.061011 0.6908307 0.0735584 1 TRUE 4.07651e-06 ENSE00001778284_020 ENSE00001778284 020 4 114120126 114120295 + 41 99 30 C T 114120284 1329 159 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTTCCTGATGTACA 113198969 113199139 113199127 113199128 113199128 downstr_intron 19 1.655172 CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTTCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA mutant NA NA NA NA NA 64 396 0.8800223 0.9772695 0.9286459 0.8490046 0.8487602 0.915 0.9063738 NA NA -0.03497766 0.07089565 0.8488824 0.9106869 NA 0.01795899 NA FALSE NA 0 0.374 rs45502093 downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 rs45502093 1 T:0.0254 T:0.0038 T:0.0375 NA T:0.0585 T:0.0288 T:0.0082 T:0.0054 T:0.0293 TCC C,T 0.03 4:113199128 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003581650 intron_variant 0.389435 0.23699 0.13855 0.061011 0.5217034 0.0735584 1 TRUE 0.0309996 ENSE00001778284_BRK ENSE00001778284 BRK 4 114120126 114120295 + 41 99 30 A,G; T,T NA NA NA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACTTAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGCCATTCCATTCAGATTTTCCCTGATGTACA 113198969 113199139 NA NA NA NA NA NA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACTTAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGCCATTCCATTCAGATTTTCCCTGATGTACA CAGAAACCTTGAACATTTTCTATTTTGTTTCTCCAAAACAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAGTCTCAGGTATTCCATTCAGATTTTCCCTGATGTACA control 421 41 0 0 0 50 168 0 0 0 0.8490046 0.8487602 0.915 0.9063738 -0.8490046 -0.8487602 -0.915 -0.9063738 0.8488824 0.9106869 -0.8488824 -0.9106869 0.06180449 TRUE TRUE NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00003581650 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001778387_000 ENSE00001778387 000 11 26705268 26705437 - 36 87 47 NA NA NA NA NA AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 NA NA NA NA NA NA AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC natural 104 144 0.9893352 0.9839746 0.9866549 2631 1934 0.9783874 0.9937602 0.9860738 0.9893352 0.9839746 0.9783874 0.9937602 0 0 0 0 0.9866549 0.9860738 0 0 0 FALSE FALSE NA NA NA NA NA SLC5A12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A12 NA NA NA ENSG00000148942 ENSE00003465543 NA NA NA NA NA NA NA 2.147268e-05 FALSE NA ENSE00001778387_001 ENSE00001778387 001 11 26705268 26705437 - 36 87 47 G A 26705286 846 152 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCTTCTTCACAATTCCCAGTC 26683720 26683890 26683738 26683739 26683739 downstr_intron 18 1.514286 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCTTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 438 140 0.9194346 1 0.9597173 0.9893352 0.9839746 0.9783874 0.9937602 NA NA -0.05895273 0.006239805 0.9866549 0.9860738 NA -0.02635646 NA FALSE NA 0 -0.596 . intron_variant&NMD_transcript_variant MODIFIER SLC5A12 HGNC 28750 ENST00000527405 11/14 rs376574221 1 A:0.0010 A:0.0038 A:0 NA A:0 A:0 A:0 A:0.0021 A:0.0001 AGG G,A 0.0003019 11:26683739 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 intron_variant 0.579701 0.1281 0.02729 0.061011 0.8018894 0.0689414 2.147268e-05 FALSE 0.000263586 ENSE00001778387_003 ENSE00001778387 003 11 26705268 26705437 - 36 87 47 T A 26705297 848 141 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGTTCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683749 26683750 26683750 downstr_intron 7 1.2 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGTTCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 307 444 0.9995005 0.9960614 0.9977809 0.9893352 0.9839746 0.9783874 0.9937602 NA NA 0.02111311 0.002301218 0.9866549 0.9860738 NA 0.01170716 NA FALSE NA 0.002 0.951 . splice_region_variant&intron_variant&NMD_transcript_variant LOW SLC5A12 HGNC 28750 ENST00000527405 11/14 rs368312706 1 A:0.0006 A:0 A:0 NA A:0 A:0.003 A:0 A:0 A:0.0013 ATC T,A 0.001719 11:26683750 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 splice_region_variant 1.765895 0.24998 0.09393 0.061011 0.856274 0.185572 2.147268e-05 FALSE 0.00163295 ENSE00001778387_004 ENSE00001778387 004 11 26705268 26705437 - 36 87 47 T C 26705306 849 132 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGGAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683758 26683759 26683759 exon -3 0.9770115 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGGAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant 46 60 0.8379915 0.85 0.8439958 68 256 0.8974963 0.9544573 0.9259768 0.9893352 0.9839746 0.9783874 0.9937602 -0.1513437 -0.1339746 -0.08089106 -0.03930289 0.9866549 0.9860738 -0.1426592 -0.06009698 0.0825622 FALSE FALSE 1 4.641 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE SLC5A12 HGNC 28750 ENST00000527405 11/15 1 deleterious_low_confidence(0.04) unknown(0) NA TTC T,C 8.325e-06 11:26683759 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 missense_variant 3.186447 0.98171 0.88251 0.553676 0.9986579 0 2.147268e-05 FALSE NA ENSE00001778387_006 ENSE00001778387 006 11 26705268 26705437 - 36 87 47 A G 26705317 851 121 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTCTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683769 26683770 26683770 exon -14 0.8505747 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTCTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 167 494 1 0.9993036 0.9996518 0.9893352 0.9839746 0.9783874 0.9937602 NA NA 0.02161264 0.005543435 0.9866549 0.9860738 NA 0.01357804 NA FALSE NA 1 2.635 . synonymous_variant&NMD_transcript_variant LOW SLC5A12 HGNC 28750 ENST00000527405 11/15 1 NA AAA A,G 3.323e-05 11:26683770 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 missense_variant 3.502977 0.97538 0.7881 0.553676 0.9938559 0 2.147268e-05 FALSE 1.87959e-05 ENSE00001778387_007 ENSE00001778387 007 11 26705268 26705437 - 36 87 47 G A 26705322 852 116 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTTCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683774 26683775 26683775 exon -19 0.7931034 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTTCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 757 213 0.9930444 1 0.9965222 0.9893352 0.9839746 0.9783874 0.9937602 NA NA 0.01465706 0.006239805 0.9866549 0.9860738 NA 0.01044843 NA FALSE NA 0.999 0.434 . missense_variant&NMD_transcript_variant MODERATE SLC5A12 HGNC 28750 ENST00000527405 11/15 1 deleterious_low_confidence(0) unknown(0) NA GGA G,A 8.304e-06 11:26683775 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 missense_variant 0.862372 0.96013 0.44795 0.553676 0.9977312 0 2.147268e-05 FALSE 9.29748e-06 ENSE00001778387_008 ENSE00001778387 008 11 26705268 26705437 - 36 87 47 C T 26705327 853 111 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCATGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683779 26683780 26683780 exon -24 0.7356322 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCATGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 76 339 0.9856262 1 0.9928131 0.9893352 0.9839746 0.9783874 0.9937602 NA NA 0.007238792 0.006239805 0.9866549 0.9860738 NA 0.006739298 NA FALSE NA 0 -4.06 . missense_variant&NMD_transcript_variant MODERATE SLC5A12 HGNC 28750 ENST00000527405 11/15 rs199554975&COSM926095 1 tolerated_low_confidence(0.15) unknown(0) T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0005 T:0.0001 ACG C,T 0.0001909 11:26683780 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 missense_variant -2.055947 0.03943 0.00656 0.553676 0.7349464 0 2.147268e-05 FALSE 0.00017917 ENSE00001778387_009 ENSE00001778387 009 11 26705268 26705437 - 36 87 47 G A 26705328 854 110 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATTGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683780 26683781 26683781 exon -25 0.7241379 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATTGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 489 39 1 1 1 0.9893352 0.9839746 0.9783874 0.9937602 NA NA 0.02161264 0.006239805 0.9866549 0.9860738 NA 0.01392622 NA FALSE NA 0.001 -0.352 . missense_variant&NMD_transcript_variant MODERATE SLC5A12 HGNC 28750 ENST00000527405 11/15 1 tolerated_low_confidence(0.15) unknown(0) NA CGA G,A 2.49e-05 11:26683781 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 missense_variant 0.444952 0.09442 0.01718 0.553676 0.6059531 0 2.147268e-05 FALSE NA ENSE00001778387_010 ENSE00001778387 010 11 26705268 26705437 - 36 87 47 G C 26705336 855 102 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCGTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683788 26683789 26683789 exon -33 0.6321839 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCGTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 311 1361 0.9994695 0.9922458 0.9958576 0.9893352 0.9839746 0.9783874 0.9937602 NA NA 0.02108213 -0.001514433 0.9866549 0.9860738 NA 0.009783846 NA FALSE NA 0.6 0.097 . missense_variant&NMD_transcript_variant MODERATE SLC5A12 HGNC 28750 ENST00000527405 11/15 1 deleterious_low_confidence(0) unknown(0) NA AGG G,C 8.293e-06 11:26683789 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 missense_variant -0.103214 0.16934 0.27933 0.553676 0.6965809 0 2.147268e-05 FALSE NA ENSE00001778387_012 ENSE00001778387 012 11 26705268 26705437 - 36 87 47 G A 26705373 857 65 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCATGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683825 26683826 26683826 exon 18 0.2068966 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCATGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 151 634 0.9969413 1 0.9984707 0.9893352 0.9839746 0.9783874 0.9937602 NA NA 0.01855397 0.006239805 0.9866549 0.9860738 NA 0.01239689 NA FALSE NA 0.087 -0.14 . missense_variant&NMD_transcript_variant MODERATE SLC5A12 HGNC 28750 ENST00000527405 11/15 1 deleterious_low_confidence(0) unknown(0) NA CGT G,A 2.487e-05 11:26683826 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 missense_variant 0.513303 0.95946 0.24767 0.553676 0.9928026 0 2.147268e-05 FALSE NA ENSE00001778387_013 ENSE00001778387 013 11 26705268 26705437 - 36 87 47 C T 26705405 858 33 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTACCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683857 26683858 26683858 upstr_intron -15 -0.2978723 AGATGCCCTTGAGTAGGGGATTCATCTGGTCTACCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 69 351 0.999402 0.994504 0.996953 0.9893352 0.9839746 0.9783874 0.9937602 NA NA 0.02101468 0.0007437823 0.9866549 0.9860738 NA 0.01087923 NA FALSE NA 0.001 -0.305 . intron_variant&NMD_transcript_variant MODIFIER SLC5A12 HGNC 28750 ENST00000527405 10/14 1 NA GCA C,T 8.339e-06 11:26683858 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 intron_variant 0.565167 0.17847 0.02303 0.074636 0.5678474 0.0742891 2.147268e-05 FALSE 1.54296e-05 ENSE00001778387_015 ENSE00001778387 015 11 26705268 26705437 - 36 87 47 T A 26705414 860 24 AGATGCCCTTGAGTAGGGGATTCTTCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 26683866 26683867 26683867 upstr_intron -24 -0.4893617 AGATGCCCTTGAGTAGGGGATTCTTCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC mutant NA NA NA NA NA 219 144 0.9575592 0.9268358 0.9421975 0.9893352 0.9839746 0.9783874 0.9937602 NA NA -0.02082819 -0.06692441 0.9866549 0.9860738 NA -0.0438763 NA FALSE NA 0.003 0.413 . intron_variant&NMD_transcript_variant MODIFIER SLC5A12 HGNC 28750 ENST00000527405 10/14 1 NA ATG T,A 8.372e-06 11:26683867 SLC5A12 HGNC Symbol protein_coding 56408 ENSG00000148942 ENSE00003465543 intron_variant 0.709626 0.24753 0.06751 0.074636 0.7031435 0.108332 2.147268e-05 FALSE 5.44455e-06 ENSE00001778387_BRK ENSE00001778387 BRK 11 26705268 26705437 - 36 87 47 A,G; T,T NA NA NA AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACTTGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGCCAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC 26683720 26683890 NA NA NA NA NA NA AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACTTGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGCCAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC AGATGCCCTTGAGTAGGGGATTCATCTGGTCTGCCTTTGTTCCACAGGCTTCCCTCAGCATTCACGGCATGTGTGGAGGACCAATGCTGGGCTTATTCTCCCTGGGAATCGTGTTCCCTTTTGTGAATTGGAAGGTAAGGATCCCACAGCCCTCTTCACAATTCCCAGTC control 489 189 0 0.0419079 0.02095395 42 143 0.1742288 0 0.08711442 0.9893352 0.9839746 0.9783874 0.9937602 -0.9893352 -0.9420667 -0.8041585 -0.9937602 0.9866549 0.9860738 -0.965701 -0.8989594 0.06674163 TRUE TRUE NA NA NA NA NA SLC5A12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A12 NA NA NA ENSG00000148942 ENSE00003465543 NA NA NA NA NA NA NA 2.147268e-05 FALSE NA ENSE00001778416_000 ENSE00001778416 000 6 30879152 30879321 + 56 69 45 NA NA NA NA NA CTTCCCATTGTCTCCCTCCCATCCCTCCTCCTTTGTCTCTGCCTCTTTCTCCCTAGAGCCGGGGCATGGACCTGGTAGAGATTCTCTCCTTCCTCTTCCAGCTCAGCTTCTCTACTCTGGGCAAGGTAAGCAGGGGGCTGAAAGGTATAGAGATGGGAAGGGGAAAGCAA 30911374 30911544 NA NA NA NA NA NA CTTCCCATTGTCTCCCTCCCATCCCTCCTCCTTTGTCTCTGCCTCTTTCTCCCTAGAGCCGGGGCATGGACCTGGTAGAGATTCTCTCCTTCCTCTTCCAGCTCAGCTTCTCTACTCTGGGCAAGGTAAGCAGGGGGCTGAAAGGTATAGAGATGGGAAGGGGAAAGCAA CTTCCCATTGTCTCCCTCCCATCCCTCCTCCTTTGTCTCTGCCTCTTTCTCCCTAGAGCCGGGGCATGGACCTGGTAGAGATTCTCTCCTTCCTCTTCCAGCTCAGCTTCTCTACTCTGGGCAAGGTAAGCAGGGGGCTGAAAGGTATAGAGATGGGAAGGGGAAAGCAA natural NA NA NA NA NA 40 670 0.9472475 0.9419417 0.9445946 NA NA 0.9472475 0.9419417 NA NA 0 0 NA 0.9445946 NA 0 NA FALSE NA NA NA NA NA NA GTF2H4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GTF2H4 NA NA NA ENSG00000213780 ENSE00003543566 NA NA NA NA NA NA NA 0.2580349 FALSE NA ENSE00001779180_000 ENSE00001779180 000 20 30749034 30749203 + 45 90 35 NA NA NA NA NA GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC 32161230 32161400 NA NA NA NA NA NA GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC natural 19 12 0.9766186 0.9879552 0.9822869 522 348 0.8786393 1 0.9393196 0.9766186 0.9879552 0.8786393 1 0 0 0 0 0.9822869 0.9393196 0 0 0 FALSE FALSE NA NA NA NA NA TM9SF4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TM9SF4 NA NA NA ENSG00000101337 ENSE00003563878 NA NA NA NA NA NA NA 0.9999708 TRUE NA ENSE00001779180_006 ENSE00001779180 006 20 30749034 30749203 + 45 90 35 C T 30749114 677 81 GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCTGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC 32161230 32161400 32161310 32161311 32161311 exon 36 0.4 GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCTGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC mutant NA NA NA NA NA 113 282 0.9642485 0.9696669 0.9669577 0.9766186 0.9879552 0.8786393 1 NA NA 0.08560924 -0.03033306 0.9822869 0.9393196 NA 0.02763809 NA FALSE NA 0 -2.656 . synonymous_variant LOW TM9SF4 HGNC 30797 ENST00000398022 17/18 1 NA CCG C,T 4.942e-05 20:32161311 TM9SF4 HGNC Symbol protein_coding 57752 ENSG00000101337 ENSE00003563878 synonymous_variant 2.617151 0.89768 0.07913 0.706548 0.6750131 0 0.9999708 TRUE 3.2487e-05 ENSE00001779180_008 ENSE00001779180 008 20 30749034 30749203 + 45 90 35 A G 30749126 679 93 GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCGTTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC 32161230 32161400 32161322 32161323 32161323 exon -43 0.5333333 GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCGTTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC mutant NA NA NA NA NA 112 121 0.9515634 1 0.9757817 0.9766186 0.9879552 0.8786393 1 NA NA 0.07292412 0 0.9822869 0.9393196 NA 0.03646206 NA FALSE NA 0.02 -0.851 . synonymous_variant LOW TM9SF4 HGNC 30797 ENST00000398022 17/18 1 NA CAT A,G 8.236e-06 20:32161323 TM9SF4 HGNC Symbol protein_coding 57752 ENSG00000101337 ENSE00003563878 synonymous_variant 1.369015 0.88369 0.23657 0.706548 0.6013881 0 0.9999708 TRUE 8.12137e-06 ENSE00001779180_011 ENSE00001779180 011 20 30749034 30749203 + 45 90 35 C T 30749147 682 114 GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCTATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC 32161230 32161400 32161343 32161344 32161344 exon -22 0.7666667 GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCTATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC mutant NA NA NA NA NA 180 52 0.9986201 1 0.99931 0.9766186 0.9879552 0.8786393 1 NA NA 0.1199808 0 0.9822869 0.9393196 NA 0.0599904 NA FALSE NA 1 1.403 rs139824158 synonymous_variant LOW TM9SF4 HGNC 30797 ENST00000398022 17/18 rs139824158 1 NA T:0 T:0.0002 CCA C,T 0.0001071 20:32161344 TM9SF4 HGNC Symbol protein_coding 57752 ENSG00000101337 ENSE00003563878 synonymous_variant 2.060188 0.98144 0.94966 0.706548 0.6129013 0 0.9999708 TRUE 0.000109645 ENSE00001779180_013 ENSE00001779180 013 20 30749034 30749203 + 45 90 35 T C 30749193 684 160 GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCCCTTAGTCCTC 32161230 32161400 32161389 32161390 32161390 downstr_intron 25 1.735294 GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCCCTTAGTCCTC GTTCTGCCCCAGGACAACACTGACCTTCCTCTGTTTCCTCCTCAGGATTACCGCTGGTGGTGGAGAAATTTCCTAGTCTCCGGGGGCTCTGCATTCTACGTCCTGGTTTATGCCATCTTTTATTTCGTTAACAAGGTACTGCCCTCCTTGAGGAGGTCCTCTTAGTCCTC mutant NA NA NA NA NA 336 84 0.9298188 1 0.9649094 0.9766186 0.9879552 0.8786393 1 NA NA 0.05117946 0 0.9822869 0.9393196 NA 0.02558973 NA FALSE NA 0 0.001 . intron_variant MODIFIER TM9SF4 HGNC 30797 ENST00000398022 17/17 1 NA CTC T,C 1.647e-05 20:32161390 TM9SF4 HGNC Symbol protein_coding 57752 ENSG00000101337 ENSE00003563878 intron_variant 0.116361 0.24759 0.01753 0.099367 0.6043706 0.0870264 0.9999708 TRUE 1.22253e-05 ENSE00001779306_000 ENSE00001779306 000 20 25259649 25259818 + 44 93 33 NA NA NA NA NA TGGGGAGGTGCCGCCCTTTTCCTCCATGCTCACCTTGTCCCAGTCCACCTTCTCCACGTCCACCAGGATCCGCATGAGCTCAGGGATGGAGAGGGCGGGGTGGGTGTCGTTCAGCTGGATGGCCACCTGAAGGTCGCACAAGGGGTGCCATTCAGTCATTTCATCCCACG 25279012 25279182 NA NA NA NA NA NA CGTGGGATGAAATGACTGAATGGCACCCCTTGTGCGACCTTCAGGTGGCCATCCAGCTGAACGACACCCACCCCGCCCTCTCCATCCCTGAGCTCATGCGGATCCTGGTGGACGTGGAGAAGGTGGACTGGGACAAGGTGAGCATGGAGGAAAAGGGCGGCACCTCCCCA CGTGGGATGAAATGACTGAATGGCACCCCTTGTGCGACCTTCAGGTGGCCATCCAGCTGAACGACACCCACCCCGCCCTCTCCATCCCTGAGCTCATGCGGATCCTGGTGGACGTGGAGAAGGTGGACTGGGACAAGGTGAGCATGGAGGAAAAGGGCGGCACCTCCCCA natural NA NA NA NA NA 10 174 0.95 0.8116519 0.880826 NA NA 0.95 0.8116519 NA NA 0 0 NA 0.880826 NA 0 NA FALSE NA NA NA NA NA NA PYGB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PYGB NA NA NA ENSG00000100994 ENSE00001779306 NA NA NA NA NA NA NA 4.764852e-07 FALSE NA ENSE00001779306_004 ENSE00001779306 004 20 25259649 25259818 + 44 93 33 C T 25259683 602 35 TGGGGAGGTGCCGCCCTTTTCCTCCATGCTCACCTTGTCCCAGTCCACCTTCTCCACGTCCACCAGGATCCGCATGAGCTCAGGGATGGAGAGGGCGGGGTGGGTGTCGTTCAGCTGGATGGCCACCTGAAGGTCACACAAGGGGTGCCATTCAGTCATTTCATCCCACG 25279012 25279182 25279046 25279047 25279047 upstr_intron -10 -0.2045455 CGTGGGATGAAATGACTGAATGGCACCCCTTGTGTGACCTTCAGGTGGCCATCCAGCTGAACGACACCCACCCCGCCCTCTCCATCCCTGAGCTCATGCGGATCCTGGTGGACGTGGAGAAGGTGGACTGGGACAAGGTGAGCATGGAGGAAAAGGGCGGCACCTCCCCA CGTGGGATGAAATGACTGAATGGCACCCCTTGTGCGACCTTCAGGTGGCCATCCAGCTGAACGACACCCACCCCGCCCTCTCCATCCCTGAGCTCATGCGGATCCTGGTGGACGTGGAGAAGGTGGACTGGGACAAGGTGAGCATGGAGGAAAAGGGCGGCACCTCCCCA mutant NA NA NA NA NA 27 17 0.8 0.8 0.8 NA NA 0.95 0.8116519 NA NA -0.15 -0.01165194 NA 0.880826 NA -0.08082597 NA FALSE NA 0 0.37 . intron_variant MODIFIER PYGB HGNC 9723 ENST00000216962 8/19 1 NA GCG C 1.647e-05 20:25279047 PYGB HGNC Symbol protein_coding 49945 ENSG00000100994 ENSE00001779306 intron_variant -0.089493 0.07793 0.00499 0.256867 0.6624283 0.11216 4.764852e-07 FALSE NA ENSE00001779638_000 ENSE00001779638 000 22 30890821 30890990 - 32 96 42 NA NA NA NA NA GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG 30494833 30495003 NA NA NA NA NA NA GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG natural 14 46 0.9993791 0.9706092 0.9849941 680 331 0.9956902 0.9753202 0.9855052 0.9993791 0.9706092 0.9956902 0.9753202 0 0 0 0 0.9849941 0.9855052 0 0 0 FALSE FALSE NA NA NA NA NA SEC14L4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC14L4 NA NA NA ENSG00000133488 ENSE00003541376 NA NA NA NA NA NA NA 5.595673e-05 FALSE NA ENSE00001779638_003 ENSE00001779638 003 22 30890821 30890990 - 32 96 42 C A 30890848 502 143 GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAATGTGGGTGGCTGGCTTGGGGCTGGTGTG 30494833 30495003 30494860 30494861 30494861 downstr_intron 5 1.16129 GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAATGTGGGTGGCTGGCTTGGGGCTGGTGTG GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG mutant NA NA NA NA NA 424 190 1 1 1 0.9993791 0.9706092 0.9956902 0.9753202 NA NA 0.004309792 0.02467985 0.9849941 0.9855052 NA 0.01449482 NA FALSE NA 0.579 0.963 . splice_region_variant&intron_variant LOW SEC14L4 HGNC 20627 ENST00000381982 6/11 rs373659262 1 NA A:0.0002 A:0 CCT C,A 2.471e-05 22:30494861 SEC14L4 HGNC Symbol protein_coding 16798 ENSG00000133488 ENSE00003541376 splice_region_variant 1.269668 0.95145 0.7951 0.061011 0.7225095 0.285589 5.595673e-05 FALSE 4.47555e-05 ENSE00001779638_008 ENSE00001779638 008 22 30890821 30890990 - 32 96 42 C T 30890916 507 75 GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTATTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG 30494833 30495003 30494928 30494929 30494929 exon 33 0.34375 GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTATTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG mutant NA NA NA NA NA 18 890 1 0.8924667 0.9462333 0.9993791 0.9706092 0.9956902 0.9753202 NA NA 0.004309792 -0.08285348 0.9849941 0.9855052 NA -0.03927184 NA FALSE NA 0.749 -0.23 . synonymous_variant LOW SEC14L4 HGNC 20627 ENST00000381982 6/12 1 NA ACA C,T 1.647e-05 22:30494929 SEC14L4 HGNC Symbol protein_coding 16798 ENSG00000133488 ENSE00003541376 synonymous_variant 1.623271 0.96715 0.60618 0.638212 0.7725133 0 5.595673e-05 FALSE 8.12876e-06 ENSE00001779638_010 ENSE00001779638 010 22 30890821 30890990 - 32 96 42 C T 30890922 509 69 GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTAATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG 30494833 30495003 30494934 30494935 30494935 exon 27 0.28125 GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTAATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG mutant NA NA NA NA NA 244 24 0.7987857 0.9527018 0.8757438 0.9993791 0.9706092 0.9956902 0.9753202 NA NA -0.1969045 -0.02261834 0.9849941 0.9855052 NA -0.1097614 NA FALSE NA 0.888 -0.082 NA NA NA SEC14L4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:30494935 SEC14L4 HGNC Symbol protein_coding 16798 ENSG00000133488 ENSE00003541376 synonymous_variant 0.727055 0.96369 0.7341 0.638212 0.6539225 0 5.595673e-05 FALSE 4.06494e-06 ENSE00001779638_017 ENSE00001779638 017 22 30890821 30890990 - 32 96 42 A C 30890947 516 44 GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCGGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG 30494833 30495003 30494959 30494960 30494960 exon 2 0.02083333 GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCGGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG mutant NA NA NA NA NA 1398 41 0.9969164 1 0.9984582 0.9993791 0.9706092 0.9956902 0.9753202 NA NA 0.001226217 0.02467985 0.9849941 0.9855052 NA 0.01295303 NA FALSE NA 1 5.522 . missense_variant&splice_region_variant MODERATE SEC14L4 HGNC 20627 ENST00000381982 6/12 1 deleterious(0) probably_damaging(0.997) NA CAG A,C 8.237e-06 22:30494960 SEC14L4 HGNC Symbol protein_coding 16798 ENSG00000133488 ENSE00003541376 missense_variant 3.955186 0.99189 0.98373 0.638212 0.9973815 0 5.595673e-05 FALSE 1.2218e-05 ENSE00001779638_020 ENSE00001779638 020 22 30890821 30890990 - 32 96 42 T C 30890964 519 27 GCTGGAGCTGTCGTCTGACCTATATGGCTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG 30494833 30495003 30494976 30494977 30494977 upstr_intron -16 -0.3571429 GCTGGAGCTGTCGTCTGACCTATATGGCTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG mutant NA NA NA NA NA 15 52 1 1 1 0.9993791 0.9706092 0.9956902 0.9753202 NA NA 0.004309792 0.02467985 0.9849941 0.9855052 NA 0.01449482 NA FALSE NA 0 -0.354 . intron_variant MODIFIER SEC14L4 HGNC 20627 ENST00000381982 5/11 1 NA GTC T,C 8.237e-06 22:30494977 SEC14L4 HGNC Symbol protein_coding 16798 ENSG00000133488 ENSE00003541376 intron_variant 0.071386 0.09335 0.00175 0.061011 0.3265975 0.0840473 5.595673e-05 FALSE 4.09309e-06 ENSE00001779638_021 ENSE00001779638 021 22 30890821 30890990 - 32 96 42 A G 30890968 520 23 GCTGGAGCTGTCGTCTGACCTACATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG 30494833 30495003 30494980 30494981 30494981 upstr_intron -20 -0.452381 GCTGGAGCTGTCGTCTGACCTACATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG mutant NA NA NA NA NA 27 21 1 0.8 0.9 0.9993791 0.9706092 0.9956902 0.9753202 NA NA 0.004309792 -0.1753202 0.9849941 0.9855052 NA -0.08550518 NA FALSE NA 0 -0.079 . intron_variant MODIFIER SEC14L4 HGNC 20627 ENST00000381982 5/11 1 NA TAT A,G 8.237e-06 22:30494981 SEC14L4 HGNC Symbol protein_coding 16798 ENSG00000133488 ENSE00003541376 intron_variant 0.055599 0.20586 0.05828 0.061011 0.4261176 0.108358 5.595673e-05 FALSE 4.09645e-06 ENSE00001779638_025 ENSE00001779638 025 22 30890821 30890990 - 32 96 42 G A 30890979 524 12 GCTGGAGCTGTTGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG 30494833 30495003 30494991 30494992 30494992 upstr_intron -31 -0.7142857 GCTGGAGCTGTTGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG GCTGGAGCTGTCGTCTGACCTATATGACTCTGTCCCAAGCAGCTGGGCAGGAAGATCGAGATGGCGCTGATGGTGTTTGACATGGAGGGGCTGAGCCTGAAACACCTGTGGAAGCCAGCTGTGGAGGTCTACCAGCAGGTAAGGTGGGTGGCTGGCTTGGGGCTGGTGTG mutant NA NA NA NA NA 14 19 1 1 1 0.9993791 0.9706092 0.9956902 0.9753202 NA NA 0.004309792 0.02467985 0.9849941 0.9855052 NA 0.01449482 NA FALSE NA 0 -1.859 . intron_variant MODIFIER SEC14L4 HGNC 20627 ENST00000381982 5/11 rs200137736 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 9.06e-05 22:30494992 SEC14L4 HGNC Symbol protein_coding 16798 ENSG00000133488 ENSE00003541376 intron_variant -0.296783 0.08446 0.01344 0.061011 0.6291146 0.0469587 5.595673e-05 FALSE 7.46281e-05 ENSE00001780247_000 ENSE00001780247 000 16 20488641 20488810 + 50 81 39 NA NA NA NA NA ACCTTGTACCTCCTCCTGAGGTTTGCTGATCTGTCTGCTTCTTTCCACAGGGATTAACTTGCATGGTTTCCAAGACAATGAAAATCAAACCAGGATACATGGGAACGGCTGCTTCCTGTTATGATGTACAGGTTTGCTCGGGACACTGAGGAGGGAGGAAGTTAGGGGAA 20477318 20477488 NA NA NA NA NA NA ACCTTGTACCTCCTCCTGAGGTTTGCTGATCTGTCTGCTTCTTTCCACAGGGATTAACTTGCATGGTTTCCAAGACAATGAAAATCAAACCAGGATACATGGGAACGGCTGCTTCCTGTTATGATGTACAGGTTTGCTCGGGACACTGAGGAGGGAGGAAGTTAGGGGAA ACCTTGTACCTCCTCCTGAGGTTTGCTGATCTGTCTGCTTCTTTCCACAGGGATTAACTTGCATGGTTTCCAAGACAATGAAAATCAAACCAGGATACATGGGAACGGCTGCTTCCTGTTATGATGTACAGGTTTGCTCGGGACACTGAGGAGGGAGGAAGTTAGGGGAA natural 32 26 0.9964083 0.9963417 0.996375 1133 1026 0.940435 0.9318727 0.9361538 0.9964083 0.9963417 0.940435 0.9318727 0 0 0 0 0.996375 0.9361538 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003492429 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00001780748_000 ENSE00001780748 000 1 153659438 153659607 + 54 72 44 NA NA NA NA NA CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 NA NA NA NA NA NA CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG natural 165 169 0.9358306 0.9087736 0.9223021 1703 1220 0.6607207 0.836139 0.7484299 0.9358306 0.9087736 0.6607207 0.836139 0 0 0 0 0.9223021 0.7484299 0 0 0 FALSE FALSE NA NA NA NA NA NPR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPR1 NA NA NA ENSG00000169418 ENSE00001780748 NA NA NA NA NA NA NA 0.0001725085 FALSE NA ENSE00001780748_001 ENSE00001780748 001 1 153659438 153659607 + 54 72 44 G C 153659448 3520 11 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCGTGGGAGTTGG 153686961 153687131 153686971 153686972 153686972 upstr_intron -44 -0.7962963 CCAACTCCCACGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 253 1149 0.9889133 0.9981911 0.9935522 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.3281926 0.1620521 0.9223021 0.7484299 NA 0.2451223 NA FALSE NA 0.002 -0.176 . intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 11/21 1 NA AGG G,C 8.236e-06 1:153686972 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant 0.0417 0.582 0.03823 0.091178 0.5437903 0.159022 0.0001725085 FALSE 4.06775e-06 ENSE00001780748_002 ENSE00001780748 002 1 153659438 153659607 + 54 72 44 T A 153659454 3521 17 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGTTCCCCCTGGGAGTTGG 153686961 153687131 153686977 153686978 153686978 upstr_intron -38 -0.6851852 CCAACTCCCAGGGGGAACTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 31 15 0.926479 0.9519126 0.9391958 404 27 0.9955358 1 0.9977679 0.9358306 0.9087736 0.6607207 0.836139 -0.009351544 0.04313893 0.334815 0.163861 0.9223021 0.7484299 0.01689369 0.249338 0.2324443 FALSE FALSE 0 -1.371 rs147084441 intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 11/21 rs147084441 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 ATC T,A 1.647e-05 1:153686978 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant 0.382206 0.1698 0.05875 0.091178 0.6692818 0.159022 0.0001725085 FALSE 1.21934e-05 ENSE00001780748_004 ENSE00001780748 004 1 153659438 153659607 + 54 72 44 G T 153659463 3523 26 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATACCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153686986 153686987 153686987 upstr_intron -29 -0.5185185 CCAACTCCCAGGGGGATCTGCAGGGTATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 113 49 1 1 1 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.3392793 0.163861 0.9223021 0.7484299 NA 0.2515701 NA FALSE NA 0 -0.366 . intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 11/21 1 NA GGA G,T 1.647e-05 1:153686987 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant 1.079709 0.07584 0.00164 0.091178 0.7928654 0.159022 0.0001725085 FALSE NA ENSE00001780748_006 ENSE00001780748 006 1 153659438 153659607 + 54 72 44 G C 153659468 3525 31 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGAGCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153686991 153686992 153686992 upstr_intron -24 -0.4259259 CCAACTCCCAGGGGGATCTGCAGGGGATTGCTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 97 436 1 0.9967945 0.9983972 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.3392793 0.1606554 0.9223021 0.7484299 NA 0.2499674 NA FALSE NA 0 0.116 . intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 11/21 1 NA GGT G,C 8.236e-06 1:153686992 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant 0.850552 0.1925 0.05842 0.091178 0.5829937 0.159022 0.0001725085 FALSE 4.06187e-06 ENSE00001780748_007 ENSE00001780748 007 1 153659438 153659607 + 54 72 44 T G 153659469 3526 32 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGCCCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153686992 153686993 153686993 upstr_intron -23 -0.4074074 CCAACTCCCAGGGGGATCTGCAGGGGATTGGGCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 26 179 0.85 0.85 0.85 NA NA NA NA NA 0.9358306 0.9087736 0.6607207 0.836139 -0.08583058 -0.05877365 NA NA 0.9223021 0.7484299 -0.07230212 NA NA NA FALSE 0.003 -0.252 . intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 11/21 1 NA GTC T,G 1.647e-05 1:153686993 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant 1.355918 0.18623 0.06423 0.091178 0.6988142 0.132798 0.0001725085 FALSE 2.43708e-05 ENSE00001780748_009 ENSE00001780748 009 1 153659438 153659607 + 54 72 44 T C 153659480 3528 43 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAGTAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687003 153687004 153687004 upstr_intron -12 -0.2037037 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTACTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 27 287 1 0.9932263 0.9966131 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.3392793 0.1570872 0.9223021 0.7484299 NA 0.2481832 NA FALSE NA 0.047 -1.161 . intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 11/21 rs377018631 1 C:0.0008 C:0 C:0 NA C:0 C:0 C:0.0041 ATT T,C 0.0004777 1:153687004 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant 0.343327 0.2374 0.00527 0.091178 0.691114 0.181702 0.0001725085 FALSE 0.000479211 ENSE00001780748_010 ENSE00001780748 010 1 153659438 153659607 + 54 72 44 G T 153659482 3529 45 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGAAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687005 153687006 153687006 upstr_intron -10 -0.1666667 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTTCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 79 300 0.974457 1 0.9872285 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.3137362 0.163861 0.9223021 0.7484299 NA 0.2387986 NA FALSE NA 0.954 4.191 . intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 11/21 1 NA TGC G,T 8.236e-06 1:153687006 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant 1.213894 0.98793 0.96532 0.091178 0.7512597 0.95348 0.0001725085 FALSE 4.06111e-06 ENSE00001780748_013 ENSE00001780748 013 1 153659438 153659607 + 54 72 44 C T 153659517 3532 80 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGATGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687040 153687041 153687041 exon 26 0.3611111 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCATCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 19 40 0.85 0.85 0.85 NA NA NA NA NA 0.9358306 0.9087736 0.6607207 0.836139 -0.08583058 -0.05877365 NA NA 0.9223021 0.7484299 -0.07230212 NA NA NA FALSE 0.042 1.452 . missense_variant MODERATE NPR1 HGNC 7943 ENST00000368680 12/22 1 deleterious(0.02) probably_damaging(1) NA ACC C,T 8.236e-06 1:153687041 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 missense_variant 5.193355 0.9843 0.75469 0.706548 0.9990151 0 0.0001725085 FALSE 4.06078e-06 ENSE00001780748_014 ENSE00001780748 014 1 153659438 153659607 + 54 72 44 G A 153659521 3533 84 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCTAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687044 153687045 153687045 exon 30 0.4166667 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTAGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 31 140 0.7154387 0.85 0.7827194 NA NA NA NA NA 0.9358306 0.9087736 0.6607207 0.836139 -0.2203919 -0.05877365 NA NA 0.9223021 0.7484299 -0.1395828 NA NA NA FALSE 1 1.721 . synonymous_variant LOW NPR1 HGNC 7943 ENST00000368680 12/22 COSM2207906 1 NA TGG G,A 8.236e-06 1:153687045 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 synonymous_variant 0.853535 0.96486 0.86299 0.706548 0.6931967 0 0.0001725085 FALSE 8.1215e-06 ENSE00001780748_015 ENSE00001780748 015 1 153659438 153659607 + 54 72 44 C T 153659524 3534 87 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAATCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687047 153687048 153687048 exon 33 0.4583333 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGATTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 10 20 0.85 0.9650896 0.9075448 531 146 0.9894842 0.9584408 0.9739625 0.9358306 0.9087736 0.6607207 0.836139 -0.08583058 0.05631598 0.3287634 0.1223018 0.9223021 0.7484299 -0.0147573 0.2255326 0.2402899 FALSE FALSE 1 3.83 . synonymous_variant LOW NPR1 HGNC 7943 ENST00000368680 12/22 1 NA ACT C,T 8.236e-06 1:153687048 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 synonymous_variant 1.496833 0.98455 0.95177 0.706548 0.5543786 0 0.0001725085 FALSE 4.06075e-06 ENSE00001780748_016 ENSE00001780748 016 1 153659438 153659607 + 54 72 44 C T 153659534 3535 97 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCAGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687057 153687058 153687058 exon -30 0.5972222 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCTGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 127 93 0.1461761 0.1014699 0.123823 NA NA NA NA NA 0.9358306 0.9087736 0.6607207 0.836139 -0.7896545 -0.8073037 NA NA 0.9223021 0.7484299 -0.7984791 NA NA NA TRUE 1 3.038 . missense_variant MODERATE NPR1 HGNC 7943 ENST00000368680 12/22 COSM896387 1 deleterious(0) probably_damaging(0.999) NA CCG C,T 1.647e-05 1:153687058 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 missense_variant 7.419701 0.97104 0.85246 0.706548 0.9992038 0 0.0001725085 FALSE 8.12143e-06 ENSE00001780748_017 ENSE00001780748 017 1 153659438 153659607 + 54 72 44 A G 153659550 3536 113 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACGATGTCACTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687073 153687074 153687074 exon -14 0.8194444 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAGTGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 434 1278 0.9977018 0.980983 0.9893424 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.336981 0.1448439 0.9223021 0.7484299 NA 0.2409125 NA FALSE NA 0.398 1.832 rs116775696 missense_variant MODERATE NPR1 HGNC 7943 ENST00000368680 12/22 rs116775696 1 tolerated(0.06) benign(0.175) G:0.0010 G:0.0038 G:0 NA G:0 G:0 G:0 G:0.002 G:0 AAT A,G 0.0001565 1:153687074 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 missense_variant 2.183584 0.97571 0.8524 0.706548 0.9957083 0 0.0001725085 FALSE 0.000117763 ENSE00001780748_018 ENSE00001780748 018 1 153659438 153659607 + 54 72 44 C T 153659557 3537 120 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGACAATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687080 153687081 153687081 exon -7 0.9166667 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATTGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 140 170 0.8755625 0.85 0.8627813 NA NA NA NA NA 0.9358306 0.9087736 0.6607207 0.836139 -0.06026807 -0.05877365 NA NA 0.9223021 0.7484299 -0.05952086 NA NA NA FALSE 0 -2.611 . synonymous_variant LOW NPR1 HGNC 7943 ENST00000368680 12/22 1 NA TCG C,T 4.942e-05 1:153687081 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 synonymous_variant 2.337436 0.93878 0.05706 0.706548 0.7502026 0 0.0001725085 FALSE 4.87282e-05 ENSE00001780748_019 ENSE00001780748 019 1 153659438 153659607 + 54 72 44 G T 153659558 3538 121 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATACCTTGAAGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687081 153687082 153687082 exon -6 0.9305556 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCTTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 14 13 0.85 0.9969055 0.9234527 NA NA NA NA NA 0.9358306 0.9087736 0.6607207 0.836139 -0.08583058 0.08813183 NA NA 0.9223021 0.7484299 0.001150624 NA NA NA FALSE 1 6.395 rs191813645 missense_variant MODERATE NPR1 HGNC 7943 ENST00000368680 12/22 rs191813645&COSM206338 1 deleterious(0) probably_damaging(0.998) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,T 8.236e-06 1:153687082 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 missense_variant 6.647216 0.99154 0.96516 0.706548 0.9959035 0 0.0001725085 FALSE 4.06068e-06 ENSE00001780748_020 ENSE00001780748 020 1 153659438 153659607 + 54 72 44 T C 153659565 3539 128 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATGCCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687088 153687089 153687089 downstr_intron 2 1.046512 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGCATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant 85 289 0.03061805 0 0.01530902 171 531 0 0 0 0.9358306 0.9087736 0.6607207 0.836139 -0.9052125 -0.9087736 -0.6607207 -0.836139 0.9223021 0.7484299 -0.9069931 -0.7484299 0.1585632 TRUE TRUE 1 7.492 . splice_donor_variant HIGH NPR1 HGNC 7943 ENST00000368680 12/21 1 NA HC GTA T,C 8.236e-06 1:153687089 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 splice_donor_variant 4.162938 0.98788 0.98125 0.099367 0.9946161 0.874777 0.0001725085 FALSE 4.06078e-06 ENSE00001780748_021 ENSE00001780748 021 1 153659438 153659607 + 54 72 44 C G 153659571 3540 134 CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGCGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687094 153687095 153687095 downstr_intron 8 1.186047 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCGCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 16 69 0.95 0.9601669 0.9550834 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.2892793 0.1240278 0.9223021 0.7484299 NA 0.2066535 NA FALSE NA 0.001 0.339 . splice_region_variant&intron_variant LOW NPR1 HGNC 7943 ENST00000368680 12/21 1 NA CCC C,G 8.236e-06 1:153687095 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 splice_region_variant 0.267112 0.27151 0.0644 0.062308 0.524678 0.165709 0.0001725085 FALSE 8.1215e-06 ENSE00001780748_023 ENSE00001780748 023 1 153659438 153659607 + 54 72 44 G T 153659585 3542 148 CCTGGCCCCTGCTCTACACATCAAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687108 153687109 153687109 downstr_intron 22 1.511628 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTTGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 785 210 0.9889557 0.9987213 0.9938385 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.328235 0.1625822 0.9223021 0.7484299 NA 0.2454086 NA FALSE NA 0.105 2.009 . intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 12/21 rs200401174 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TGG G,T 2.471e-05 1:153687109 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant -0.330235 0.22531 0.36804 0.062308 0.5500873 0.0660512 0.0001725085 FALSE 1.6243e-05 ENSE00001780748_024 ENSE00001780748 024 1 153659438 153659607 + 54 72 44 A T 153659587 3543 150 CCTGGCCCCTGCTCTACACAACCAATAGGTGCTTAGGGGCATACCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCCTGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 153687110 153687111 153687111 downstr_intron 24 1.55814 CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGTTGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG mutant NA NA NA NA NA 158 109 0.9674218 0.9486307 0.9580263 0.9358306 0.9087736 0.6607207 0.836139 NA NA 0.3067011 0.1124916 0.9223021 0.7484299 NA 0.2095964 NA FALSE NA 0.002 -1.199 . intron_variant MODIFIER NPR1 HGNC 7943 ENST00000368680 12/21 rs374884506 1 NA T:0 T:0.0001 GAT A,T 8.236e-06 1:153687111 NPR1 HGNC Symbol protein_coding 15355 ENSG00000169418 ENSE00001780748 intron_variant -0.290466 0.17151 0.06689 0.062308 0.5169833 0.0660512 0.0001725085 FALSE 8.12156e-06 ENSE00001780748_BRK ENSE00001780748 BRK 1 153659438 153659607 + 54 72 44 A,G; T,T NA NA NA CCTGGCCCCTGCTCTACACATCCAATAGGTGCTTAGGGGCATGGCTTGACGATGTCATTGGTGAGTGAGTACCGGAACATCCAGTCCAGGGTGATGCTCTCATTCTCCAGAATGTCAAGCTGGGGCAATAAGAGTCAGACCAATCCCCTGCAGATCCCCCTGGGAGTTGG 153686961 153687131 NA NA NA NA NA NA CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCTTGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGCCATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG CCAACTCCCAGGGGGATCTGCAGGGGATTGGTCTGACTCTTATTGCCCCAGCAGGACATTCTGGAGAATGAGAGCATCACCCTGGACTGGATGTTCCGGTACTCACTCACCAATGACATCGTCAAGGTATGCCCCTAAGCACCTATTGGATGTGTAGAGCAGGGGCCAGG control 673 347 0 0 0 197 378 0 0 0 0.9358306 0.9087736 0.6607207 0.836139 -0.9358306 -0.9087736 -0.6607207 -0.836139 0.9223021 0.7484299 -0.9223021 -0.7484299 0.1738722 TRUE TRUE NA NA NA NA NA NPR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPR1 NA NA NA ENSG00000169418 ENSE00001780748 NA NA NA NA NA NA NA 0.0001725085 FALSE NA ENSE00001781218_000 ENSE00001781218 000 X 50055495 50055664 + 42 96 32 NA NA NA NA NA AAATCATTGCCCAACCCAAGCAACCTAAATACCTCTCTCTCTTTCATGTAACTGAAGATTTCCTTGGCATACATTGGGTTGAAACTTGGATCACTGCTGTCCTCATCAATATCTTCCCGTGGGGTTATCTGCTTAGAAATCACCAAAAAGACATATTATGAGAATTATTC 50312494 50312664 NA NA NA NA NA NA GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT natural 118 63 0.9177093 0.8620633 0.8898863 5492 3672 0.8893256 0.9648039 0.9270647 0.9177093 0.8620633 0.8893256 0.9648039 0 0 0 0 0.8898863 0.9270647 0 0 0 FALSE FALSE NA NA NA NA NA CCNB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCNB3 NA NA NA ENSG00000147082 ENSE00003561170 NA NA NA NA NA NA NA 0.5708869 FALSE NA ENSE00001781218_001 ENSE00001781218 001 X 50055495 50055664 + 42 96 32 C T 50055505 513 11 AAATCATTGCCCAACCCAAGCAACCTAAATACCTCTCTCTCTTTCATGTAACTGAAGATTTCCTTGGCATACATTGGGTTGAAACTTGGATCACTGCTGTCCTCATCAATATCTTCCCGTGGGGTTATCTGCTTAGAAATCACCAAAAAGACATATTATAAGAATTATTC 50312494 50312664 50312504 50312505 50312505 upstr_intron -32 -0.7380952 GAATAATTCTTATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT mutant NA NA NA NA NA 276 967 0.9517837 0.9329045 0.9423441 0.9177093 0.8620633 0.8893256 0.9648039 NA NA 0.06245813 -0.03189936 0.8898863 0.9270647 NA 0.01527938 NA FALSE NA 0.001 -0.195 . intron_variant MODIFIER CCNB3 HGNC 18709 ENST00000348603 3/7 1 NA TCA C,T 8.238e-06 X:50312505 CCNB3 HGNC Symbol protein_coding 149197 ENSG00000147082 ENSE00003561170 intron_variant 0.899787 0.14836 0.02255 0 0.7474184 0.0758208 0.5708869 FALSE 5.75275e-06 ENSE00001781218_004 ENSE00001781218 004 X 50055495 50055664 + 42 96 32 A G 50055537 516 43 AAATCATTGCCCAACCCAAGCAACCTAAATACCTCTCTCTCTTTCATGTAACTGAAGATTTCCTTGGCATACATTGGGTTGAAACTTGGATCACTGCTGTCCTCATCAATATCTTCCCGTGGGGTTACCTGCTTAGAAATCACCAAAAAGACATATTATGAGAATTATTC 50312494 50312664 50312536 50312537 50312537 exon 1 0.01041667 GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGGTAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT mutant NA NA NA NA NA 237 504 1 0.9902703 0.9951352 0.9177093 0.8620633 0.8893256 0.9648039 NA NA 0.1106744 0.02546645 0.8898863 0.9270647 NA 0.06807045 NA FALSE NA 0.808 0.285 . intron_variant MODIFIER CCNB3 HGNC 18709 ENST00000348603 3/7 1 NA GAT A,G 2.471e-05 X:50312537 CCNB3 HGNC Symbol protein_coding 149197 ENSG00000147082 ENSE00003561170 stop_lost -2.352349 0.70099 0.25035 0 0.2723415 0 0.5708869 FALSE 1.72113e-05 ENSE00001781218_005 ENSE00001781218 005 X 50055495 50055664 + 42 96 32 A G 50055545 517 51 AAATCATTGCCCAACCCAAGCAACCTAAATACCTCTCTCTCTTTCATGTAACTGAAGATTTCCTTGGCATACATTGGGTTGAAACTTGGATCACTGCTGTCCTCATCAATATCTTCCCGCGGGGTTATCTGCTTAGAAATCACCAAAAAGACATATTATGAGAATTATTC 50312494 50312664 50312544 50312545 50312545 exon 9 0.09375 GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCGCGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT mutant NA NA NA NA NA 243 410 0.9998305 0.9995209 0.9996757 0.9177093 0.8620633 0.8893256 0.9648039 NA NA 0.110505 0.03471702 0.8898863 0.9270647 NA 0.07261099 NA FALSE NA 0 0.096 rs137958884 intron_variant MODIFIER CCNB3 HGNC 18709 ENST00000348603 3/7 1 NA CAC A,G 9.06e-05 X:50312545 CCNB3 HGNC Symbol protein_coding 149197 ENSG00000147082 ENSE00003561170 synonymous_variant -1.07632 0.16213 0.03222 0 0.4160457 0 0.5708869 FALSE 7.47784e-05 ENSE00001781218_009 ENSE00001781218 009 X 50055495 50055664 + 42 96 32 T A 50055610 521 116 AAATCATTGCCCAACCCAAGCAACCTAAATACCTCTCTCTCTTTCATGTAACTGTAGATTTCCTTGGCATACATTGGGTTGAAACTTGGATCACTGCTGTCCTCATCAATATCTTCCCGTGGGGTTATCTGCTTAGAAATCACCAAAAAGACATATTATGAGAATTATTC 50312494 50312664 50312609 50312610 50312610 exon -23 0.7708333 GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTACAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT mutant NA NA NA NA NA 192 839 0.9915595 0.9691608 0.9803602 0.9177093 0.8620633 0.8893256 0.9648039 NA NA 0.102234 0.004356904 0.8898863 0.9270647 NA 0.05329543 NA FALSE NA 1 5.248 . intron_variant MODIFIER CCNB3 HGNC 18709 ENST00000348603 3/7 1 NA TTC T,A 1.647e-05 X:50312610 CCNB3 HGNC Symbol protein_coding 149197 ENSG00000147082 ENSE00003561170 missense_variant 4.932754 0.97387 0.94508 0 0.9869388 0 0.5708869 FALSE 5.82795e-06 ENSE00001781218_011 ENSE00001781218 011 X 50055495 50055664 + 42 96 32 A T 50055618 523 124 GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACTTGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT 50312494 50312664 50312617 50312618 50312618 exon -15 0.8541667 GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACTTGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT mutant NA NA NA NA NA 448 83 0.9679079 0.9962454 0.9820767 0.9177093 0.8620633 0.8893256 0.9648039 NA NA 0.07858235 0.03144155 0.8898863 0.9270647 NA 0.05501195 NA FALSE NA 1 1.247 . intron_variant MODIFIER CCNB3 HGNC 18709 ENST00000348603 3/7 1 NA CAT A,T 8.237e-06 X:50312618 CCNB3 HGNC Symbol protein_coding 149197 ENSG00000147082 ENSE00003561170 missense_variant 0.362878 0.95804 0.5312 0 0.5928027 0 0.5708869 FALSE 5.84037e-06 ENSE00001781218_012 ENSE00001781218 012 X 50055495 50055664 + 42 96 32 A G 50055623 524 129 AAATCATTGCCCAACCCAAGCAACCTAAATACCTCTCTCTCCTTCATGTAACTGAAGATTTCCTTGGCATACATTGGGTTGAAACTTGGATCACTGCTGTCCTCATCAATATCTTCCCGTGGGGTTATCTGCTTAGAAATCACCAAAAAGACATATTATGAGAATTATTC 50312494 50312664 50312622 50312623 50312623 exon -10 0.90625 GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAGGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT mutant NA NA NA NA NA 46 114 0.9991019 1 0.999551 0.9177093 0.8620633 0.8893256 0.9648039 NA NA 0.1097764 0.0351961 0.8898863 0.9270647 NA 0.07248623 NA FALSE NA 0.999 0.019 rs148251422 intron_variant MODIFIER CCNB3 HGNC 18709 ENST00000348603 3/7 1 NA AAG A,G 1.647e-05 X:50312623 CCNB3 HGNC Symbol protein_coding 149197 ENSG00000147082 ENSE00003561170 synonymous_variant -0.238522 0.89048 0.05245 0 0.6144123 0 0.5708869 FALSE 2.3465e-05 ENSE00001781218_BRK ENSE00001781218 BRK X 50055495 50055664 + 42 96 32 A,G; T,T NA NA NA GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCTTATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGCCATTTAGGTTGCTTGGGTTGGGCAATGATTT 50312494 50312664 NA NA NA NA NA NA GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCTTATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGCCATTTAGGTTGCTTGGGTTGGGCAATGATTT GAATAATTCTCATAATATGTCTTTTTGGTGATTTCTAAGCAGATAACCCCACGGGAAGATATTGATGAGGACAGCAGTGATCCAAGTTTCAACCCAATGTATGCCAAGGAAATCTTCAGTTACATGAAAGAGAGAGAGGTATTTAGGTTGCTTGGGTTGGGCAATGATTT control 99 133 0 0.03464965 0.01732482 387 1489 0.1764333 0.04952951 0.1129814 0.9177093 0.8620633 0.8893256 0.9648039 -0.9177093 -0.8274137 -0.7128923 -0.9152744 0.8898863 0.9270647 -0.8725615 -0.8140833 0.05847814 TRUE TRUE NA NA NA NA NA CCNB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCNB3 NA NA NA ENSG00000147082 ENSE00003561170 NA NA NA NA NA NA NA 0.5708869 FALSE NA ENSE00001781541_000 ENSE00001781541 000 16 15102580 15102749 + 56 69 45 NA NA NA NA NA TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 NA NA NA NA NA NA TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT natural 13 14 1 0.9445125 0.9722563 4818 2940 0.9650414 0.9884193 0.9767304 1 0.9445125 0.9650414 0.9884193 0 0 0 0 0.9722563 0.9767304 0 0 0 FALSE FALSE NA NA NA NA NA PDXDC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDXDC1 NA NA NA ENSG00000179889 ENSE00003547011 NA NA NA NA NA NA NA 2.302602e-07 FALSE NA ENSE00001781541_001 ENSE00001781541 001 16 15102580 15102749 + 56 69 45 A C 15102590 960 11 TCTGAAGTGACTGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008732 15008733 15008733 upstr_intron -46 -0.8035714 TCTGAAGTGACTGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 1697 1214 0.9714106 0.9992352 0.9853229 1 0.9445125 0.9650414 0.9884193 NA NA 0.006369232 0.01081586 0.9722563 0.9767304 NA 0.008592548 NA FALSE NA 0 -0.119 . intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 5/21 1 NA AAT A,C 3.295e-05 16:15008733 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.509728 0.42311 0.13684 0.295142 0.6777388 0.13635 2.302602e-07 FALSE 2.91101e-05 ENSE00001781541_002 ENSE00001781541 002 16 15102580 15102749 + 56 69 45 A G 15102597 961 18 TCTGAAGTGAATGGTGCGGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008739 15008740 15008740 upstr_intron -39 -0.6785714 TCTGAAGTGAATGGTGCGGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 335 382 0.8041415 1 0.9020707 1 0.9445125 0.9650414 0.9884193 NA NA -0.1608999 0.01158065 0.9722563 0.9767304 NA -0.07465963 NA FALSE NA 0 0.119 . intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 5/21 1 NA CAG A,G 8.236e-06 16:15008740 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.648766 0.21931 0.08059 0.295142 0.7360425 0.123323 2.302602e-07 FALSE 2.03963e-05 ENSE00001781541_003 ENSE00001781541 003 16 15102580 15102749 + 56 69 45 G A 15102602 962 23 TCTGAAGTGAATGGTGCAGAGAACTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008744 15008745 15008745 upstr_intron -34 -0.5892857 TCTGAAGTGAATGGTGCAGAGAACTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 1051 455 1 0.9936912 0.9968456 1 0.9445125 0.9650414 0.9884193 NA NA 0.03495859 0.005271884 0.9722563 0.9767304 NA 0.02011524 NA FALSE NA 0 -0.145 . intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 5/21 1 NA AGC G,A 8.236e-06 16:15008745 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant -0.185395 0.1661 0.02132 0.295142 0.6036202 0.127143 2.302602e-07 FALSE 8.14996e-06 ENSE00001781541_004 ENSE00001781541 004 16 15102580 15102749 + 56 69 45 A G 15102613 963 34 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCGAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008755 15008756 15008756 upstr_intron -23 -0.3928571 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCGAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 478 163 1 0.9763038 0.9881519 1 0.9445125 0.9650414 0.9884193 NA NA 0.03495859 -0.01211551 0.9722563 0.9767304 NA 0.01142154 NA FALSE NA 0.015 1.357 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:15008756 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.173784 0.2295 0.10984 0.295142 0.2912977 0.127206 2.302602e-07 FALSE 8.14392e-06 ENSE00001781541_005 ENSE00001781541 005 16 15102580 15102749 + 56 69 45 A C 15102613 964 34 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCCAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008755 15008756 15008756 upstr_intron -23 -0.3928571 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCCAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 1946 452 0.9972323 0.9950518 0.996142 1 0.9445125 0.9650414 0.9884193 NA NA 0.03219088 0.00663242 0.9722563 0.9767304 NA 0.01941165 NA FALSE NA 0.015 1.357 NA NA NA PDXDC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDXDC1 NA NA NA ENSG00000179889 ENSE00003547011 intron_variant -0.002267 0.23239 0.11514 0.295142 0.3491219 0.127206 2.302602e-07 FALSE 4.07196e-06 ENSE00001781541_006 ENSE00001781541 006 16 15102580 15102749 + 56 69 45 A C 15102614 965 35 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCACGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008756 15008757 15008757 upstr_intron -22 -0.375 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCACGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 805 236 1 1 1 1 0.9445125 0.9650414 0.9884193 NA NA 0.03495859 0.01158065 0.9722563 0.9767304 NA 0.02326962 NA FALSE NA 0.028 2.172 . intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 5/21 1 NA AAG A,C 8.236e-06 16:15008757 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.052774 0.26725 0.24839 0.295142 0.360556 0.127206 2.302602e-07 FALSE 4.07024e-06 ENSE00001781541_007 ENSE00001781541 007 16 15102580 15102749 + 56 69 45 G A 15102615 966 36 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAATCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008757 15008758 15008758 upstr_intron -21 -0.3571429 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAATCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 64 334 1 0.9981558 0.9990779 1 0.9445125 0.9650414 0.9884193 NA NA 0.03495859 0.009736477 0.9722563 0.9767304 NA 0.02234753 NA FALSE NA 0.003 -0.119 . intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 5/21 1 NA AGT G,A 8.236e-06 16:15008758 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.417319 0.17952 0.02503 0.295142 0.4891021 0.127206 2.302602e-07 FALSE NA ENSE00001781541_008 ENSE00001781541 008 16 15102580 15102749 + 56 69 45 T C 15102621 967 42 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATACGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008763 15008764 15008764 upstr_intron -15 -0.25 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATACGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 399 1007 0.9607552 0.9963705 0.9785628 1 0.9445125 0.9650414 0.9884193 NA NA -0.004286217 0.007951106 0.9722563 0.9767304 NA 0.001832444 NA FALSE NA 0.04 0.564 . intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 5/21 rs369576972 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 ATG T,C 3.295e-05 16:15008764 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.142723 0.25571 0.03119 0.295142 0.6118382 0.127206 2.302602e-07 FALSE 1.62756e-05 ENSE00001781541_009 ENSE00001781541 009 16 15102580 15102749 + 56 69 45 T C 15102631 968 52 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCCGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008773 15008774 15008774 upstr_intron -5 -0.07142857 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCCGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 222 211 0.8529461 0.9808007 0.9168734 1 0.9445125 0.9650414 0.9884193 NA NA -0.1120954 -0.007618684 0.9722563 0.9767304 NA -0.05985702 NA FALSE NA 0.129 2.271 . splice_region_variant&intron_variant LOW PDXDC1 HGNC 28995 ENST00000569715 5/21 1 NA CTG T,C 8.236e-06 16:15008774 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 splice_region_variant 1.348913 0.95264 0.63895 0.295142 0.846866 0.524989 2.302602e-07 FALSE 1.62722e-05 ENSE00001781541_010 ENSE00001781541 010 16 15102580 15102749 + 56 69 45 C T 15102638 969 59 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTTGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008780 15008781 15008781 exon 3 0.04347826 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTTGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 143 449 1 0.9862802 0.9931401 1 0.9445125 0.9650414 0.9884193 NA NA 0.03495859 -0.002139131 0.9722563 0.9767304 NA 0.01640973 NA FALSE NA 0.002 -1.595 . splice_region_variant&synonymous_variant LOW PDXDC1 HGNC 28995 ENST00000569715 6/22 COSM556661 1 NA TCG C,T 1.647e-05 16:15008781 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 splice_region_variant 1.885437 0.93558 0.03988 0.722319 0.8007644 0 2.302602e-07 FALSE 2.44069e-05 ENSE00001781541_011 ENSE00001781541 011 16 15102580 15102749 + 56 69 45 G A 15102639 970 60 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCAGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008781 15008782 15008782 exon 4 0.05797101 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCAGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 514 623 0.9072877 0.9999389 0.9536133 1 0.9445125 0.9650414 0.9884193 NA NA -0.05775368 0.01151954 0.9722563 0.9767304 NA -0.02311707 NA FALSE NA 1 7.178 . missense_variant MODERATE PDXDC1 HGNC 28995 ENST00000569715 6/22 COSM967312 1 tolerated(0.06) possibly_damaging(0.665) NA CGG G,A 0.0001153 16:15008782 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 missense_variant 5.376798 0.98863 0.9802 0.722319 0.9967083 0 2.302602e-07 FALSE 7.32261e-05 ENSE00001781541_012 ENSE00001781541 012 16 15102580 15102749 + 56 69 45 C T 15102647 971 68 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCTTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008789 15008790 15008790 exon 12 0.173913 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCTTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 739 688 1 0.9836639 0.9918319 1 0.9445125 0.9650414 0.9884193 NA NA 0.03495859 -0.004755493 0.9722563 0.9767304 NA 0.01510155 NA FALSE NA 0.996 0.391 . synonymous_variant LOW PDXDC1 HGNC 28995 ENST00000569715 6/22 1 NA CCT C,T 8.236e-06 16:15008790 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 synonymous_variant 1.97372 0.9655 0.67248 0.722319 0.7635597 0 2.302602e-07 FALSE 4.06732e-06 ENSE00001781541_014 ENSE00001781541 014 16 15102580 15102749 + 56 69 45 C G 15102650 973 71 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTGCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008792 15008793 15008793 exon 15 0.2173913 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTGCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 232 1939 0.994673 0.9999184 0.9972957 1 0.9445125 0.9650414 0.9884193 NA NA 0.02963159 0.01149908 0.9722563 0.9767304 NA 0.02056533 NA FALSE NA 0.324 -0.579 . missense_variant MODERATE PDXDC1 HGNC 28995 ENST00000569715 6/22 1 tolerated(1) benign(0.001) NA TCC C,G 8.236e-06 16:15008793 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 missense_variant 1.211084 0.95305 0.28669 0.722319 0.7722474 0 2.302602e-07 FALSE 4.06726e-06 ENSE00001781541_016 ENSE00001781541 016 16 15102580 15102749 + 56 69 45 C T 15102663 975 84 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCTGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008805 15008806 15008806 exon 28 0.4057971 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCTGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 135 545 0.9993887 0.9994192 0.999404 1 0.9445125 0.9650414 0.9884193 NA NA 0.03434731 0.01099983 0.9722563 0.9767304 NA 0.02267357 NA FALSE NA 0.996 4.209 rs139977095 missense_variant MODERATE PDXDC1 HGNC 28995 ENST00000569715 6/22 COSM1220115 1 tolerated(0.18) possibly_damaging(0.781) NA CCG C,T 4.118e-05 16:15008806 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 missense_variant 6.629263 0.98303 0.91132 0.722319 0.9990896 0 2.302602e-07 FALSE 2.84703e-05 ENSE00001781541_017 ENSE00001781541 017 16 15102580 15102749 + 56 69 45 G A 15102664 976 85 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCATGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008806 15008807 15008807 exon 29 0.4202899 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCATGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 913 189 0.9927549 0.9997984 0.9962766 1 0.9445125 0.9650414 0.9884193 NA NA 0.02771349 0.01137904 0.9722563 0.9767304 NA 0.01954627 NA FALSE NA 0.967 1.439 NA NA NA PDXDC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:15008807 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 missense_variant 3.623854 0.97531 0.82926 0.722319 0.9953818 0 2.302602e-07 FALSE 8.13564e-05 ENSE00001781541_019 ENSE00001781541 019 16 15102580 15102749 + 56 69 45 C A 15102670 978 91 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACACTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008812 15008813 15008813 exon -35 0.5072464 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACACTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 954 777 0.9944928 0.9966449 0.9955689 1 0.9445125 0.9650414 0.9884193 NA NA 0.0294514 0.008225553 0.9722563 0.9767304 NA 0.01883848 NA FALSE NA 1 7.099 rs150502355 missense_variant MODERATE PDXDC1 HGNC 28995 ENST00000569715 6/22 rs150502355 1 deleterious(0) probably_damaging(0.967) NA A:0.0121 A:0 CCC C,A 0.00126 16:15008813 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 missense_variant 7.060175 0.99323 0.98613 0.722319 0.9971992 0 2.302602e-07 FALSE 0.00063084 ENSE00001781541_020 ENSE00001781541 020 16 15102580 15102749 + 56 69 45 C G 15102671 979 92 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCGTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008813 15008814 15008814 exon -34 0.5217391 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCGTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 795 237 1 0.9983779 0.9991889 1 0.9445125 0.9650414 0.9884193 NA NA 0.03495859 0.009958538 0.9722563 0.9767304 NA 0.02245856 NA FALSE NA 0.876 -0.075 . synonymous_variant LOW PDXDC1 HGNC 28995 ENST00000569715 6/22 1 NA CCT C,G 8.236e-06 16:15008814 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 synonymous_variant 1.591331 0.96674 0.7265 0.722319 0.7279765 0 2.302602e-07 FALSE 4.06719e-06 ENSE00001781541_023 ENSE00001781541 023 16 15102580 15102749 + 56 69 45 A G 15102697 982 118 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCGTCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008839 15008840 15008840 exon -8 0.8985507 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCGTCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 798 507 0.9944173 1 0.9972087 1 0.9445125 0.9650414 0.9884193 NA NA 0.02937593 0.01158065 0.9722563 0.9767304 NA 0.02047829 NA FALSE NA 1 8.489 . missense_variant MODERATE PDXDC1 HGNC 28995 ENST00000569715 6/22 1 deleterious(0.02) possibly_damaging(0.561) NA CAT A,G 8.236e-06 16:15008840 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 missense_variant 5.766103 0.99102 0.98892 0.722319 0.9970024 0 2.302602e-07 FALSE 8.14001e-06 ENSE00001781541_024 ENSE00001781541 024 16 15102580 15102749 + 56 69 45 A G 15102702 983 123 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGGTGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008844 15008845 15008845 exon -3 0.9710145 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGGTGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 461 639 0.9946638 0.9914903 0.9930771 1 0.9445125 0.9650414 0.9884193 NA NA 0.0296224 0.00307096 0.9722563 0.9767304 NA 0.01634668 NA FALSE NA 1 8.489 . missense_variant&splice_region_variant MODERATE PDXDC1 HGNC 28995 ENST00000569715 6/22 1 deleterious(0.01) possibly_damaging(0.492) NA GAT A,G 8.236e-06 16:15008845 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 missense_variant 5.197414 0.99102 0.98892 0.722319 0.9944829 0 2.302602e-07 FALSE NA ENSE00001781541_026 ENSE00001781541 026 16 15102580 15102749 + 56 69 45 C T 15102715 985 136 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTATTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008857 15008858 15008858 downstr_intron 11 1.25 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTATTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 42 830 0.9525009 0.9990313 0.9757661 1 0.9445125 0.9650414 0.9884193 NA NA -0.01254056 0.01061192 0.9722563 0.9767304 NA -0.0009643197 NA FALSE NA 0 -0.183 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:15008858 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.460062 0.2338 0.04063 0.099367 0.6415341 0.199182 2.302602e-07 FALSE 2.44874e-05 ENSE00001781541_027 ENSE00001781541 027 16 15102580 15102749 + 56 69 45 C G 15102715 986 136 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTAGTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008857 15008858 15008858 downstr_intron 11 1.25 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTAGTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 596 509 0.9948171 0.9990977 0.9969574 1 0.9445125 0.9650414 0.9884193 NA NA 0.02977573 0.01067836 0.9722563 0.9767304 NA 0.02022704 NA FALSE NA 0 -0.183 NA NA NA PDXDC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDXDC1 NA NA NA ENSG00000179889 ENSE00003547011 intron_variant 0.357034 0.24521 0.0427 0.099367 0.6416062 0.199182 2.302602e-07 FALSE 4.08123e-06 ENSE00001781541_029 ENSE00001781541 029 16 15102580 15102749 + 56 69 45 G A 15102720 988 141 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTAGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008862 15008863 15008863 downstr_intron 16 1.363636 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTAGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 528 1507 0.9982725 0.9998698 0.9990712 1 0.9445125 0.9650414 0.9884193 NA NA 0.03323113 0.01145042 0.9722563 0.9767304 NA 0.02234078 NA FALSE NA 0.001 0.471 . intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 6/21 1 NA TGG G,A 8.236e-06 16:15008863 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.655196 0.2096 0.01463 0.099367 0.6508603 0.199182 2.302602e-07 FALSE 4.0835e-06 ENSE00001781541_030 ENSE00001781541 030 16 15102580 15102749 + 56 69 45 T G 15102723 989 144 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTGTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 15008865 15008866 15008866 downstr_intron 19 1.431818 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTGTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 104 82 0.9833812 1 0.9916906 1 0.9445125 0.9650414 0.9884193 NA NA 0.01833979 0.01158065 0.9722563 0.9767304 NA 0.01496022 NA FALSE NA 0.009 0.449 . intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 6/21 1 NA TTT T,G 8.236e-06 16:15008866 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant 0.728983 0.2961 0.16232 0.099367 0.7964116 0.199182 2.302602e-07 FALSE 8.17341e-06 ENSE00001781541_031 ENSE00001781541 031 16 15102580 15102749 + 56 69 45 A T 15102733 990 154 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCTTGTGGGATTGTGTTTT 15008722 15008892 15008875 15008876 15008876 downstr_intron 29 1.659091 TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCTTGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT mutant NA NA NA NA NA 1328 378 0.9966627 0.9947962 0.9957294 1 0.9445125 0.9650414 0.9884193 NA NA 0.03162125 0.006376883 0.9722563 0.9767304 NA 0.01899907 NA FALSE NA 0 -0.447 rs140226685 intron_variant MODIFIER PDXDC1 HGNC 28995 ENST00000569715 6/21 rs140226685 1 T:0.0008 T:0 T:0 NA T:0 T:0.004 T:0 T:0.0011 T:0.002 CAT A,T 0.002611 16:15008876 PDXDC1 HGNC Symbol protein_coding 164748 ENSG00000179889 ENSE00003547011 intron_variant -0.039739 0.18259 0.10502 0.156188 0.7414576 0.199182 2.302602e-07 FALSE 0.00304248 ENSE00001781541_BRK ENSE00001781541 BRK 16 15102580 15102749 + 56 69 45 A,G; T,T NA NA NA TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCTTCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGCCGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT 15008722 15008892 NA NA NA NA NA NA TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCTTCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGCCGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT TCTGAAGTGAATGGTGCAGAGAGCTTTCTTGTCAAGTCATATGTTTCTTCCTGCAGCTCGGCTTGCCCTTCCCCTGCTTGTGCCGTGTACCCTGTAACACTGTGTTTGGATCCCAGCATCAGATGGTGAGTTCTACTTTTGGTTTGTAAAATCATGTGGGATTGTGTTTT control 13 10 0 0 0 NA NA NA NA NA 1 0.9445125 0.9650414 0.9884193 -1 -0.9445125 NA NA 0.9722563 0.9767304 -0.9722563 NA NA NA TRUE NA NA NA NA NA PDXDC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDXDC1 NA NA NA ENSG00000179889 ENSE00003547011 NA NA NA NA NA NA NA 2.302602e-07 FALSE NA ENSE00001783129_000 ENSE00001783129 000 16 16330713 16330882 + 45 90 35 NA NA NA NA NA CCAAAGGCAATGTTATGATTTCTGTTTTCCTTCCTTCCTTTCCAGATAAAGCTGTACACCAAGCATGGGACTTTGAAATACCAGACAGACTGTGCCCCTAATAATGGTTACTTTATGATCCCTTTGTATGATAAGGTAAGAGGGGACTGCTTGTCACTTATGATGGGAAG 16236855 16237025 NA NA NA NA NA NA CCAAAGGCAATGTTATGATTTCTGTTTTCCTTCCTTCCTTTCCAGATAAAGCTGTACACCAAGCATGGGACTTTGAAATACCAGACAGACTGTGCCCCTAATAATGGTTACTTTATGATCCCTTTGTATGATAAGGTAAGAGGGGACTGCTTGTCACTTATGATGGGAAG CCAAAGGCAATGTTATGATTTCTGTTTTCCTTCCTTCCTTTCCAGATAAAGCTGTACACCAAGCATGGGACTTTGAAATACCAGACAGACTGTGCCCCTAATAATGGTTACTTTATGATCCCTTTGTATGATAAGGTAAGAGGGGACTGCTTGTCACTTATGATGGGAAG natural NA NA NA NA NA 278 477 0.8257987 1 0.9128994 NA NA 0.8257987 1 NA NA 0 0 NA 0.9128994 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003667461 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00001783324_000 ENSE00001783324 000 19 2982077 2982246 + 69 42 59 NA NA NA NA NA GTGCTTTCTCATGCCTTTCATGGAGGGACAGCCGCACCCCTGAGCTCCTGGTCACCCACCTGCTTGTGATGTTCTGCCACATCCTGCTGGATCTTGTGCAGCTGCAAAGGGAAAACAGAGATCCCATCGGGAGGTGGTCCGGGTGTGAATGCTGTGTGACCCTGGGCAAG 2982078 2982248 NA NA NA NA NA NA CTTGCCCAGGGTCACACAGCATTCACACCCGGACCACCTCCCGATGGGATCTCTGTTTTCCCTTTGCAGCTGCACAAGATCCAGCAGGATGTGGCAGAACATCACAAGCAGGTGGGTGACCAGGAGCTCAGGGGTGCGGCTGTCCCTCCATGAAAGGCATGAGAAAGCAC CTTGCCCAGGGTCACACAGCATTCACACCCGGACCACCTCCCGATGGGATCTCTGTTTTCCCTTTGCAGCTGCACAAGATCCAGCAGGATGTGGCAGAACATCACAAGCAGGTGGGTGACCAGGAGCTCAGGGGTGCGGCTGTCCCTCCATGAAAGGCATGAGAAAGCAC natural NA NA NA NA NA 175 616 1 0.9886144 0.9943072 NA NA 1 0.9886144 NA NA 0 0 NA 0.9943072 NA 0 NA FALSE NA NA NA NA NA NA TLE6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE6 NA NA NA ENSG00000104953 ENSE00003631498 NA NA NA NA NA NA NA 0.001011458 FALSE NA ENSE00001783324_001 ENSE00001783324 001 19 2982077 2982246 + 69 42 59 G A 2982107 172 31 GTGCTTTCTCATGCCTTTCATGGAGGGACAGCCGCACCCCTGAGCTCCTGGTCACCCACCTGCTTGTGATGTTCTGCCACATCCTGCTGGATCTTGTGCAGCTGCAAAGGGAAAACAGAGATCCCATCGGGAGGTGGTCTGGGTGTGAATGCTGTGTGACCCTGGGCAAG 2982078 2982248 2982108 2982109 2982109 upstr_intron -39 -0.5507246 CTTGCCCAGGGTCACACAGCATTCACACCCAGACCACCTCCCGATGGGATCTCTGTTTTCCCTTTGCAGCTGCACAAGATCCAGCAGGATGTGGCAGAACATCACAAGCAGGTGGGTGACCAGGAGCTCAGGGGTGCGGCTGTCCCTCCATGAAAGGCATGAGAAAGCAC CTTGCCCAGGGTCACACAGCATTCACACCCGGACCACCTCCCGATGGGATCTCTGTTTTCCCTTTGCAGCTGCACAAGATCCAGCAGGATGTGGCAGAACATCACAAGCAGGTGGGTGACCAGGAGCTCAGGGGTGCGGCTGTCCCTCCATGAAAGGCATGAGAAAGCAC mutant NA NA NA NA NA 266 337 0.8545932 0.9427059 0.8986496 NA NA 1 0.9886144 NA NA -0.1454068 -0.04590847 NA 0.9943072 NA -0.09565765 NA FALSE NA 0 -2.983 . upstream_gene_variant MODIFIER TLE6 HGNC 30788 ENST00000591953 1 NA CGG G,A 0.0002389 19:2982109 TLE6 HGNC Symbol protein_coding 17738 ENSG00000104953 ENSE00003631498 intron_variant -1.229947 0.02374 0.00167 0.078448 0.7577295 0.0641515 0.001011458 FALSE 0.000127917 ENSE00001783324_005 ENSE00001783324 005 19 2982077 2982246 + 69 42 59 G A 2982191 176 115 GTGCTTTCTCATGCCTTTCATGGAGGGACAGCCGCACCCCTGAGCTCCTGGTCACTCACCTGCTTGTGATGTTCTGCCACATCCTGCTGGATCTTGTGCAGCTGCAAAGGGAAAACAGAGATCCCATCGGGAGGTGGTCCGGGTGTGAATGCTGTGTGACCCTGGGCAAG 2982078 2982248 2982192 2982193 2982193 downstr_intron 4 1.068966 CTTGCCCAGGGTCACACAGCATTCACACCCGGACCACCTCCCGATGGGATCTCTGTTTTCCCTTTGCAGCTGCACAAGATCCAGCAGGATGTGGCAGAACATCACAAGCAGGTGAGTGACCAGGAGCTCAGGGGTGCGGCTGTCCCTCCATGAAAGGCATGAGAAAGCAC CTTGCCCAGGGTCACACAGCATTCACACCCGGACCACCTCCCGATGGGATCTCTGTTTTCCCTTTGCAGCTGCACAAGATCCAGCAGGATGTGGCAGAACATCACAAGCAGGTGGGTGACCAGGAGCTCAGGGGTGCGGCTGTCCCTCCATGAAAGGCATGAGAAAGCAC mutant NA NA NA NA NA 30 41 1 1 1 NA NA 1 0.9886144 NA NA 0 0.01138559 NA 0.9943072 NA 0.005692794 NA FALSE NA 0.196 0.355 . upstream_gene_variant MODIFIER TLE6 HGNC 30788 ENST00000591953 rs569228512 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGG G,A 0.0003489 19:2982193 TLE6 HGNC Symbol protein_coding 17738 ENSG00000104953 ENSE00003631498 splice_region_variant 0.601701 0.26392 8e-04 0.078448 0.8299939 0.117693 0.001011458 FALSE 0.000235316 ENSE00001783520_000 ENSE00001783520 000 1 150471641 150471810 + 51 78 41 NA NA NA NA NA GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 NA NA NA NA NA NA GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT natural 153 167 0.998876 0.9931461 0.996011 11090 15828 0.9409713 0.9808441 0.9609077 0.998876 0.9931461 0.9409713 0.9808441 0 0 0 0 0.996011 0.9609077 0 0 0 FALSE FALSE NA NA NA NA NA TARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TARS2 NA NA NA ENSG00000143374 ENSE00003696948 NA NA NA NA NA NA NA 1.874558e-08 FALSE NA ENSE00001783520_002 ENSE00001783520 002 1 150471641 150471810 + 51 78 41 A G 150471654 3376 14 GCTTTTGAAGTCTGAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499177 150499178 150499178 upstr_intron -38 -0.7254902 GCTTTTGAAGTCTGAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant NA NA NA NA NA 1236 2952 0.9981725 0.9958572 0.9970149 0.998876 0.9931461 0.9409713 0.9808441 NA NA 0.05720119 0.01501303 0.996011 0.9609077 NA 0.03610711 NA FALSE NA 0 0.271 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 9/14 1 NA TAA A,G 0.0002389 1:150499178 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant 0.107263 0.15488 0.02689 0.160075 0.6618851 0.0499259 1.874558e-08 FALSE 0.000292635 ENSE00001783520_003 ENSE00001783520 003 1 150471641 150471810 + 51 78 41 A T 150471657 3377 17 GCTTTTGAAGTCTAAGTTGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499180 150499181 150499181 upstr_intron -35 -0.6666667 GCTTTTGAAGTCTAAGTTGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 34 34 1 1 1 1939 910 0.947138 0.997437 0.9722875 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006853948 0.00616668 0.0165929 0.996011 0.9609077 0.003988971 0.01137979 0.007390819 FALSE FALSE 0 -0.119 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 9/14 1 NA GAT A,T 9.884e-05 1:150499181 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant -0.196048 0.15102 0.08478 0.359288 0.7165729 0.0499259 1.874558e-08 FALSE 0.000113783 ENSE00001783520_004 ENSE00001783520 004 1 150471641 150471810 + 51 78 41 G A 150471675 3378 35 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTATCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499198 150499199 150499199 upstr_intron -17 -0.3137255 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTATCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 22 23 1 1 1 2096 1672 0.9414592 0.9905127 0.965986 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006853948 0.00048786 0.009668558 0.996011 0.9609077 0.003988971 0.005078209 0.001089237 FALSE FALSE 0 -0.401 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 9/14 rs587665031 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGT G,A 2.471e-05 1:150499199 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant 0.061041 0.15044 0.01075 0.359288 0.4746668 0.102561 1.874558e-08 FALSE 3.65551e-05 ENSE00001783520_005 ENSE00001783520 005 1 150471641 150471810 + 51 78 41 C T 150471677 3379 37 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTTTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499200 150499201 150499201 upstr_intron -15 -0.2745098 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTTTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 24 34 1 1 1 877 764 1 1 1 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006853948 0.05902865 0.01915586 0.996011 0.9609077 0.003988971 0.03909226 0.03510329 FALSE FALSE 0 -0.034 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 9/14 1 NA TCT C,T 8.236e-06 1:150499201 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant 0.497925 0.94286 0.20943 0.359288 0.4388476 0.102561 1.874558e-08 FALSE 4.06187e-06 ENSE00001783520_006 ENSE00001783520 006 1 150471641 150471810 + 51 78 41 C T 150471679 3380 39 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTTATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499202 150499203 150499203 upstr_intron -13 -0.2352941 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTTATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 25 41 0.9980007 1 0.9990003 602 189 0.9765746 1 0.9882873 0.998876 0.9931461 0.9409713 0.9808441 -0.000875349 0.006853948 0.03560324 0.01915586 0.996011 0.9609077 0.0029893 0.02737955 0.02439025 FALSE FALSE 0 -0.133 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 9/14 1 NA TCA C,T 3.295e-05 1:150499203 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant 0.389961 0.36989 0.13744 0.359288 0.5435896 0.102561 1.874558e-08 FALSE 3.65568e-05 ENSE00001783520_007 ENSE00001783520 007 1 150471641 150471810 + 51 78 41 C A 150471683 3381 43 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTACTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499206 150499207 150499207 upstr_intron -9 -0.1568627 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTACTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 23 22 1 1 1 898 922 0.9806132 0.99942 0.9900166 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006853948 0.03964186 0.01857589 0.996011 0.9609077 0.003988971 0.02910888 0.0251199 FALSE FALSE 0 -0.843 rs142090653 intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 9/14 rs142090653 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 TCC C,A 1.647e-05 1:150499207 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant 0.375056 0.22334 0.13288 0.359288 0.5766068 0.102561 1.874558e-08 FALSE 1.21861e-05 ENSE00001783520_008 ENSE00001783520 008 1 150471641 150471810 + 51 78 41 T C 150471696 3382 56 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCCTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499219 150499220 150499220 exon 5 0.06410256 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCCTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 11 15 1 1 1 402 966 0.9953936 0.9996724 0.997533 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006853948 0.05442225 0.01882828 0.996011 0.9609077 0.003988971 0.03662527 0.0326363 FALSE FALSE 1 5.095 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/15 1 NA CTT T,C 8.236e-06 1:150499220 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 missense_variant 5.027342 0.98482 0.99116 0.719381 0.9989067 0 1.874558e-08 FALSE 8.12117e-06 ENSE00001783520_010 ENSE00001783520 010 1 150471641 150471810 + 51 78 41 T A 150471717 3384 77 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATATGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499240 150499241 150499241 exon 26 0.3333333 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATATGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 26 27 1 1 1 NA NA NA NA NA 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006853948 NA NA 0.996011 0.9609077 0.003988971 NA NA NA FALSE 1 3.702 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:150499241 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 missense_variant 5.56282 0.98231 0.96354 0.706548 0.9936394 0 1.874558e-08 FALSE 2.03032e-05 ENSE00001783520_011 ENSE00001783520 011 1 150471641 150471810 + 51 78 41 T C 150471717 3385 77 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATCTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499240 150499241 150499241 exon 26 0.3333333 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATCTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 15 26 1 1 1 2807 1164 0.998619 0.9981065 0.9983627 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006853948 0.05764764 0.01726236 0.996011 0.9609077 0.003988971 0.037455 0.03346603 FALSE FALSE 1 3.702 NA NA NA TARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TARS2 NA NA NA ENSG00000143374 ENSE00003696948 missense_variant 2.837795 0.98075 0.94396 0.706548 0.9847586 0 1.874558e-08 FALSE 2.84245e-05 ENSE00001783520_013 ENSE00001783520 013 1 150471641 150471810 + 51 78 41 A G 150471738 3387 98 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAGCTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499261 150499262 150499262 exon -32 0.6025641 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAGCTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 22 13 1 0.9995799 0.9997899 1130 949 0.9005945 0.999592 0.9500933 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006433834 -0.04037683 0.01874789 0.996011 0.9609077 0.003778914 -0.01081447 0.01459338 FALSE FALSE 0.541 0.734 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/15 rs377553660 1 NA G:0.0002 G:0 AAC A,G 2.471e-05 1:150499262 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 missense_variant 2.082566 0.96629 0.36501 0.706548 0.9626814 0 1.874558e-08 FALSE 1.21819e-05 ENSE00001783520_014 ENSE00001783520 014 1 150471641 150471810 + 51 78 41 C T 150471739 3388 99 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAATTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499262 150499263 150499263 exon -31 0.6153846 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAATTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 38 83 0.9954163 0.9994627 0.9974395 NA NA NA NA NA 0.998876 0.9931461 0.9409713 0.9808441 -0.003459679 0.006316623 NA NA 0.996011 0.9609077 0.001428472 NA NA NA FALSE 0.163 -0.285 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/15 1 NA ACT C,T 8.236e-06 1:150499263 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 synonymous_variant 1.364887 0.96856 0.23009 0.706548 0.6010937 0 1.874558e-08 FALSE 4.06062e-06 ENSE00001783520_015 ENSE00001783520 015 1 150471641 150471810 + 51 78 41 G A 150471743 3389 103 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTAGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499266 150499267 150499267 exon -27 0.6666667 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTAGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 16 18 0.9994616 0.9938383 0.9966499 2494 2675 0.9983144 0.9961817 0.997248 0.998876 0.9931461 0.9409713 0.9808441 0.0005855734 0.0006922331 0.05734301 0.0153376 0.996011 0.9609077 0.0006389033 0.0363403 0.0357014 FALSE FALSE 1 9.026 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/15 1 NA TGG G,A 3.295e-05 1:150499267 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 missense_variant 6.820762 0.99413 0.99341 0.706548 0.9993927 0 1.874558e-08 FALSE 2.03031e-05 ENSE00001783520_016 ENSE00001783520 016 1 150471641 150471810 + 51 78 41 C T 150471754 3390 114 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCTTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499277 150499278 150499278 exon -16 0.8076923 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCTTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 10 20 0.9980007 0.9927816 0.9953911 1453 1511 0.9940204 0.9998953 0.9969578 0.998876 0.9931461 0.9409713 0.9808441 -0.000875349 -0.0003644238 0.05304901 0.01905118 0.996011 0.9609077 -0.0006198864 0.03605009 0.03666998 FALSE FALSE 0.082 -1.165 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/15 1 NA CCT C,T 8.236e-06 1:150499278 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 synonymous_variant 1.921086 0.96154 0.15999 0.706548 0.5113555 0 1.874558e-08 FALSE 4.06062e-06 ENSE00001783520_017 ENSE00001783520 017 1 150471641 150471810 + 51 78 41 T C 150471760 3391 120 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTACGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499283 150499284 150499284 exon -10 0.8846154 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTACGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant 29 43 0.9944887 0.9998797 0.9971842 3133 3252 0.9979589 0.8584155 0.9281872 0.998876 0.9931461 0.9409713 0.9808441 -0.004387256 0.006733675 0.05698757 -0.1224287 0.996011 0.9609077 0.00117321 -0.03272055 0.03389375 FALSE FALSE 1 1.07 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/15 1 NA ATG T,C 1.647e-05 1:150499284 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 synonymous_variant 0.125738 0.98609 0.9022 0.706548 0.6204817 0 1.874558e-08 FALSE 8.1213e-06 ENSE00001783520_018 ENSE00001783520 018 1 150471641 150471810 + 51 78 41 C T 150471782 3392 142 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGATCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499305 150499306 150499306 downstr_intron 13 1.325 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGATCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant NA NA NA NA NA 2805 1046 0.9975709 0.9989867 0.9982788 0.998876 0.9931461 0.9409713 0.9808441 NA NA 0.05659958 0.01814256 0.996011 0.9609077 NA 0.03737107 NA FALSE NA 0 -1.13 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/14 1 NA ACC C,T 8.236e-06 1:150499306 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant 0.048526 0.17149 0.04887 0.099367 0.2238459 0.0983814 1.874558e-08 FALSE 4.06507e-06 ENSE00001783520_019 ENSE00001783520 019 1 150471641 150471810 + 51 78 41 C G 150471783 3393 143 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACGCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499306 150499307 150499307 downstr_intron 14 1.35 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACGCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant NA NA NA NA NA 1599 665 0.9976919 0.9997621 0.998727 0.998876 0.9931461 0.9409713 0.9808441 NA NA 0.05672055 0.01891797 0.996011 0.9609077 NA 0.03781926 NA FALSE NA 0 -1.063 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/14 1 NA CCC C,G 8.236e-06 1:150499307 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant -0.118434 0.19031 0.12345 0.099367 0.3098206 0.0983814 1.874558e-08 FALSE 4.06653e-06 ENSE00001783520_020 ENSE00001783520 020 1 150471641 150471810 + 51 78 41 T C 150471788 3394 148 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGCTAGTGTTGTATTTATTTATTTT 150499164 150499334 150499311 150499312 150499312 downstr_intron 19 1.475 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGCTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant NA NA NA NA NA 2556 1409 0.9626311 0.9834225 0.9730268 0.998876 0.9931461 0.9409713 0.9808441 NA NA 0.0216598 0.002578313 0.996011 0.9609077 NA 0.01211905 NA FALSE NA 0 -0.077 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/14 1 NA GTT T,C 2.471e-05 1:150499312 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant -0.132905 0.16318 0.06888 0.099367 0.3246718 0.0720977 1.874558e-08 FALSE 2.85665e-05 ENSE00001783520_021 ENSE00001783520 021 1 150471641 150471810 + 51 78 41 A G 150471798 3395 158 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTGTTTATTTATTTT 150499164 150499334 150499321 150499322 150499322 downstr_intron 29 1.725 GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTGTTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT mutant NA NA NA NA NA 2206 689 0.9917901 0.9904703 0.9911302 0.998876 0.9931461 0.9409713 0.9808441 NA NA 0.05081874 0.009626153 0.996011 0.9609077 NA 0.03022244 NA FALSE NA 0 0.147 . intron_variant&NMD_transcript_variant MODIFIER TARS2 HGNC 30740 ENST00000467982 10/14 1 NA TAT A,G 1.647e-05 1:150499322 TARS2 HGNC Symbol protein_coding 20245 ENSG00000143374 ENSE00003696948 intron_variant -0.018507 0.16086 0.03725 0.099367 0.4583924 0.0720977 1.874558e-08 FALSE 1.73063e-05 ENSE00001783520_BRK ENSE00001783520 BRK 1 150471641 150471810 + 51 78 41 A,G; T,T NA NA NA GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAATTGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGCCAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT 150499164 150499334 NA NA NA NA NA NA GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAATTGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGCCAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT GCTTTTGAAGTCTAAGATGATGTATTCCACTCTTGTCTCATTCCTTCAAAGGTCCTTAAACAGGCCCTGAAGGAATTTGGAGAACCCTGGGACCTCAACTCTGGAGATGGTGCCTTCTATGGACCTAAGGTAAGCTTGGGACCCTGGTTAGTGTTGTATTTATTTATTTT control 36 44 1 1 1 29 37 1 0.8 0.9 0.998876 0.9931461 0.9409713 0.9808441 0.001123995 0.006853948 0.05902865 -0.1808441 0.996011 0.9609077 0.003988971 -0.06090774 0.06489671 FALSE FALSE NA NA NA NA NA TARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TARS2 NA NA NA ENSG00000143374 ENSE00003696948 NA NA NA NA NA NA NA 1.874558e-08 FALSE NA ENSE00001784042_000 ENSE00001784042 000 2 33002908 33003077 + 41 99 30 NA NA NA NA NA TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT 32777840 32778010 NA NA NA NA NA NA TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT natural NA NA NA NA NA 46 156 1 0.9970178 0.9985089 NA NA 1 0.9970178 NA NA 0 0 NA 0.9985089 NA 0 NA FALSE NA NA NA NA NA NA TTC27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC27 NA NA NA ENSG00000018699 ENSE00003684219 NA NA NA NA NA NA NA 6.542582e-09 FALSE NA ENSE00001784042_001 ENSE00001784042 001 2 33002908 33003077 + 41 99 30 T C 33002919 1091 12 TTTCTGTGTGTCTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT 32777840 32778010 32777851 32777852 32777852 upstr_intron -30 -0.7073171 TTTCTGTGTGTCTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT mutant NA NA NA NA NA 36 60 0.95 0.95 0.95 NA NA 1 0.9970178 NA NA -0.05 -0.04701777 NA 0.9985089 NA -0.04850888 NA FALSE NA 0.001 -0.346 . intron_variant&NMD_transcript_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 3/5 1 NA TTT T,C 8.236e-06 2:32777852 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00003684219 intron_variant 0.061553 0.38543 0.13145 0.099367 0.6082613 0.169733 6.542582e-09 FALSE 4.0802e-06 ENSE00001784042_006 ENSE00001784042 006 2 33002908 33003077 + 41 99 30 C T 33002951 1096 44 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTTGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT 32777840 32778010 32777883 32777884 32777884 exon 3 0.03030303 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTTGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT mutant NA NA NA NA NA 235 67 0.8420916 0.9108456 0.8764686 NA NA 1 0.9970178 NA NA -0.1579084 -0.08617216 NA 0.9985089 NA -0.1220403 NA FALSE NA 0 -3.437 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW TTC27 HGNC 25986 ENST00000433416 4/6 1 NA TCG C,T 8.236e-06 2:32777884 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00003684219 splice_region_variant -0.339499 0.24175 0.05321 0.706298 0.7694519 0 6.542582e-09 FALSE 2.03135e-05 ENSE00001784042_011 ENSE00001784042 011 2 33002908 33003077 + 41 99 30 T G 33002968 1101 61 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCGCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT 32777840 32778010 32777900 32777901 32777901 exon 20 0.2020202 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCGCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT mutant NA NA NA NA NA 110 259 1 1 1 NA NA 1 0.9970178 NA NA 0 0.002982231 NA 0.9985089 NA 0.001491116 NA FALSE NA 1 7.776 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 4/6 1 NA CTC T,G 8.236e-06 2:32777901 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00003684219 missense_variant 5.713935 0.98382 0.96245 0.706298 0.9966735 0 6.542582e-09 FALSE 8.12282e-06 ENSE00001784042_021 ENSE00001784042 021 2 33002908 33003077 + 41 99 30 C T 33003044 1111 137 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCTGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT 32777840 32778010 32777976 32777977 32777977 exon -4 0.969697 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCTGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT mutant NA NA NA NA NA 46 106 1 1 1 NA NA 1 0.9970178 NA NA 0 0.002982231 NA 0.9985089 NA 0.001491116 NA FALSE NA 0.092 -0.638 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 4/6 1 NA CCG C,T 4.118e-05 2:32777977 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00003684219 synonymous_variant 1.43798 0.46025 0.07663 0.706298 0.7965784 0 6.542582e-09 FALSE 2.03204e-05 ENSE00001784042_024 ENSE00001784042 024 2 33002908 33003077 + 41 99 30 A C 33003061 1114 154 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGCTCTTCTGTCCTTACGT 32777840 32778010 32777993 32777994 32777994 downstr_intron 14 1.482759 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGCTCTTCTGTCCTTACGT TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT mutant NA NA NA NA NA 60 48 1 1 1 NA NA 1 0.9970178 NA NA 0 0.002982231 NA 0.9985089 NA 0.001491116 NA FALSE NA 0 -0.89 . intron_variant&NMD_transcript_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 4/5 rs369932938 1 NA C:0 C:0.0001 GAT A,C 1.647e-05 2:32777994 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00003684219 intron_variant -0.280084 0.24673 0.04793 0.099367 0.6321426 0.198031 6.542582e-09 FALSE 8.12982e-06 ENSE00001784042_025 ENSE00001784042 025 2 33002908 33003077 + 41 99 30 T G 33003062 1115 155 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGAGCTTCTGTCCTTACGT 32777840 32778010 32777994 32777995 32777995 downstr_intron 15 1.517241 TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGAGCTTCTGTCCTTACGT TTTCTGTGTGTTTGAATGACTTTGACTTTTGGTCTTTGCAGCTCGGGGTGTGGTTTTCTCTCGGTTGTGCCTATTTGGCCTTGGAAGACTATCAAGGTTCAGCAAAGGCATTTCAGCGCTGTGTGACTCTAGAACCCGATGTAAGTTTGTTTGATCTTCTGTCCTTACGT mutant NA NA NA NA NA 32 14 0.8962441 0.9914051 0.9438246 NA NA 1 0.9970178 NA NA -0.1037559 -0.005612704 NA 0.9985089 NA -0.05468431 NA FALSE NA 0.002 0.272 . intron_variant&NMD_transcript_variant MODIFIER TTC27 HGNC 25986 ENST00000433416 4/5 1 NA ATC T,G 1.647e-05 2:32777995 TTC27 HGNC Symbol protein_coding 193019 ENSG00000018699 ENSE00003684219 intron_variant 0.042956 0.3047 0.15196 0.099367 0.575896 0.198031 6.542582e-09 FALSE 1.21939e-05 ENSE00001787123_000 ENSE00001787123 000 15 51809240 51809409 - 35 90 45 NA NA NA NA NA ATTATAATTTGTTGGCCATTAACATTTTGTGTTTTTTATTTACAGAAACTTATTGGAGAAGTGTTTAATATTGTGAGCCAACAGTCTACTGCTCGACCTGGCTGCATTATTGAACTCGACGCAATAACCAACCAAGTAAAAACATGCTTGTGAATTGGTGATATTCGTAT 51517042 51517212 NA NA NA NA NA NA ATTATAATTTGTTGGCCATTAACATTTTGTGTTTTTTATTTACAGAAACTTATTGGAGAAGTGTTTAATATTGTGAGCCAACAGTCTACTGCTCGACCTGGCTGCATTATTGAACTCGACGCAATAACCAACCAAGTAAAAACATGCTTGTGAATTGGTGATATTCGTAT ATTATAATTTGTTGGCCATTAACATTTTGTGTTTTTTATTTACAGAAACTTATTGGAGAAGTGTTTAATATTGTGAGCCAACAGTCTACTGCTCGACCTGGCTGCATTATTGAACTCGACGCAATAACCAACCAAGTAAAAACATGCTTGTGAATTGGTGATATTCGTAT natural NA NA NA NA NA 651 1412 0.8530495 0.9809043 0.9169769 NA NA 0.8530495 0.9809043 NA NA 0 0 NA 0.9169769 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00001787123 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00001787760_000 ENSE00001787760 000 4 114163226 114163395 + 41 99 30 NA NA NA NA NA GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC 113242069 113242239 NA NA NA NA NA NA GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC natural NA NA NA NA NA 1887 2432 0.8767555 0.9788589 0.9278072 NA NA 0.8767555 0.9788589 NA NA 0 0 NA 0.9278072 NA 0 NA FALSE NA NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002531541 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001787760_002 ENSE00001787760 002 4 114163226 114163395 + 41 99 30 T G 114163254 1362 29 GTCATACCCAACAGCTCTTGTTTGGTCTGTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC 113242069 113242239 113242097 113242098 113242098 upstr_intron -13 -0.2926829 GTCATACCCAACAGCTCTTGTTTGGTCTGTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC mutant NA NA NA NA NA 254 252 1 1 1 NA NA 0.8767555 0.9788589 NA NA 0.1232445 0.02114114 NA 0.9278072 NA 0.07219281 NA FALSE NA 1 2.123 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000503271 9/30 1 NA TTT T,G 1.647e-05 4:113242098 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002531541 intron_variant 1.03714 0.95959 0.88642 0.062308 0.7362818 0.330291 1 TRUE 8.1279e-06 ENSE00001787760_003 ENSE00001787760 003 4 114163226 114163395 + 41 99 30 G A 114163261 1363 36 GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGATGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC 113242069 113242239 113242104 113242105 113242105 upstr_intron -6 -0.1219512 GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGATGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC mutant NA NA NA NA NA 464 78 0.9973084 0.9995106 0.9984095 NA NA 0.8767555 0.9788589 NA NA 0.1205529 0.02065173 NA 0.9278072 NA 0.07060233 NA FALSE NA 0.845 0.002 . splice_region_variant&intron_variant LOW ANK2 HGNC 493 ENST00000503271 9/30 1 NA GGT G,A 8.237e-06 4:113242105 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002531541 splice_region_variant 0.191252 0.23313 0.42196 0.062308 0.4618669 0.250517 1 TRUE 4.06336e-06 ENSE00001787760_005 ENSE00001787760 005 4 114163226 114163395 + 41 99 30 T C 114163287 1365 62 GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCACGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC 113242069 113242239 113242130 113242131 113242131 exon 21 0.2121212 GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCACGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC mutant NA NA NA NA NA 65 161 1 1 1 NA NA 0.8767555 0.9788589 NA NA 0.1232445 0.02114114 NA 0.9278072 NA 0.07219281 NA FALSE NA 0.888 0.194 . synonymous_variant LOW ANK2 HGNC 493 ENST00000506722 10/47 1 NA ATG T,C 8.237e-05 4:113242131 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002531541 synonymous_variant 0.171096 0.96506 0.74036 0.706548 0.6366472 0 1 TRUE 9.34245e-05 ENSE00001787760_006 ENSE00001787760 006 4 114163226 114163395 + 41 99 30 C A 114163324 1366 99 GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGATCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC 113242069 113242239 113242167 113242168 113242168 exon -42 0.5858586 GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGATCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC mutant NA NA NA NA NA 749 55 0.998005 0.984011 0.991008 NA NA 0.8767555 0.9788589 NA NA 0.1212495 0.00515216 NA 0.9278072 NA 0.06320084 NA FALSE NA 1 6.034 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 10/47 1 deleterious(0) probably_damaging(0.973) NA GCT C,A 8.236e-06 4:113242168 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002531541 missense_variant 7.079069 0.99682 0.98718 0.562547 0.9961799 0 1 TRUE 4.06131e-06 ENSE00001787760_011 ENSE00001787760 011 4 114163226 114163395 + 41 99 30 G A 114163351 1371 126 GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCAATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC 113242069 113242239 113242194 113242195 113242195 exon -15 0.8585859 GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCAATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC mutant NA NA NA NA NA 94 110 1 0.999305 0.9996525 NA NA 0.8767555 0.9788589 NA NA 0.1232445 0.02044618 NA 0.9278072 NA 0.07184533 NA FALSE NA 1 9.818 . missense_variant MODERATE ANK2 HGNC 493 ENST00000506722 10/47 1 deleterious(0.02) probably_damaging(0.991) NA CGA G,A 0.0001483 4:113242195 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00002531541 missense_variant 7.151357 0.99408 0.99113 0.562547 0.9990708 0 1 TRUE 0.000105605 ENSE00001787760_BRK ENSE00001787760 BRK 4 114163226 114163395 + 41 99 30 A,G; T,T NA NA NA GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTTTAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGCCGAGTGTCTCTGTTCTTTCAATTTTCTAC 113242069 113242239 NA NA NA NA NA NA GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTTTAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGCCGAGTGTCTCTGTTCTTTCAATTTTCTAC GTCATACCCAACAGCTCTTGTTTGGTCTTTCTGTGGTGTAGAATGGAATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGTGAGTGTCTCTGTTCTTTCAATTTTCTAC control NA NA NA NA NA 2630 211 0.00682106 0 0.00341053 NA NA 0.8767555 0.9788589 NA NA -0.8699345 -0.9788589 NA 0.9278072 NA -0.9243967 NA TRUE NA NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00002531541 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001787987_000 ENSE00001787987 000 10 62021587 62021756 - 30 99 41 NA NA NA NA NA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 NA NA NA NA NA NA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA natural 77 88 0.8574435 0.9552144 0.906329 1871 1641 0.9640028 0.8235081 0.8937554 0.8574435 0.9552144 0.9640028 0.8235081 0 0 0 0 0.906329 0.8937554 0 0 0 FALSE FALSE NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00002514748 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001787987_001 ENSE00001787987 001 10 62021587 62021756 - 30 99 41 C T 62021618 1062 139 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAAGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261859 60261860 60261860 exon -2 0.989899 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAAGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 519 1243 1 0.9988509 0.9994254 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.03599723 0.1753428 0.906329 0.8937554 NA 0.10567 NA FALSE NA 1 7.653 . missense_variant&splice_region_variant MODERATE ANK3 HGNC 494 ENST00000373827 8/44 1 tolerated_low_confidence(0.36) benign(0.001) NA CCT C,T 8.237e-06 10:60261860 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 missense_variant 4.544609 0.99539 0.98238 0.693126 0.8073344 0 1 TRUE 4.06736e-06 ENSE00001787987_002 ENSE00001787987 002 10 62021587 62021756 - 30 99 41 G A 62021623 1063 134 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACTGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261864 60261865 60261865 exon -7 0.9393939 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACTGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 372 424 0.7627674 0.789758 0.7762627 0.8574435 0.9552144 0.9640028 0.8235081 NA NA -0.2012354 -0.03375009 0.906329 0.8937554 NA -0.1174927 NA FALSE NA 0.001 -0.922 rs143189056 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 8/44 rs143189056 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0005 A:0 CGG G,A 3.295e-05 10:60261865 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 synonymous_variant 0.813932 0.94894 0.08265 0.693126 0.8245052 0 1 TRUE 3.66056e-05 ENSE00001787987_003 ENSE00001787987 003 10 62021587 62021756 - 30 99 41 A C 62021635 1064 122 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCGGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261876 60261877 60261877 exon -19 0.8181818 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCGGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant 129 276 0.85 0.85 0.85 553 595 0.9379119 0.939779 0.9388454 0.8574435 0.9552144 0.9640028 0.8235081 -0.007443505 -0.1052144 -0.02609088 0.1162709 0.906329 0.8937554 -0.05632897 0.04509002 0.101419 FALSE FALSE 0.525 -0.106 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 8/44 1 NA CAG A,C 8.237e-06 10:60261877 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 synonymous_variant -1.040712 0.96922 0.51245 0.638212 0.7081753 0 1 TRUE 4.06689e-06 ENSE00001787987_004 ENSE00001787987 004 10 62021587 62021756 - 30 99 41 C T 62021641 1065 116 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCAGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261882 60261883 60261883 exon -25 0.7575758 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCAGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 143 220 1 0.9998268 0.9999134 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.03599723 0.1763187 0.906329 0.8937554 NA 0.106158 NA FALSE NA 0 -1.518 rs146748344 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 8/44 rs146748344&COSM4014993 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0005 T:0 CCG C,T 3.295e-05 10:60261883 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 synonymous_variant 2.02428 0.97247 0.13973 0.693126 0.6732525 0 1 TRUE 3.25341e-05 ENSE00001787987_005 ENSE00001787987 005 10 62021587 62021756 - 30 99 41 G A 62021642 1066 115 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGTGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261883 60261884 60261884 exon -26 0.7474747 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGTGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant 18 16 0.992651 1 0.9963255 492 1534 0.9971209 0.9997937 0.9984573 0.8574435 0.9552144 0.9640028 0.8235081 0.1352075 0.04478556 0.03311811 0.1762857 0.906329 0.8937554 0.08999653 0.1047019 0.01470536 FALSE FALSE 1 5.426 rs140444175 missense_variant MODERATE ANK3 HGNC 494 ENST00000373827 8/44 rs140444175 1 deleterious_low_confidence(0) benign(0.002) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 1.647e-05 10:60261884 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 missense_variant 5.862208 0.98944 0.93535 0.693126 0.999157 0 1 TRUE 4.06745e-06 ENSE00001787987_006 ENSE00001787987 006 10 62021587 62021756 - 30 99 41 C T 62021659 1067 98 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACATTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261900 60261901 60261901 exon -43 0.5757576 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACATTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 103 297 1 1 1 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.03599723 0.1764919 0.906329 0.8937554 NA 0.1062446 NA FALSE NA 0 -3.13 rs117266082 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 8/44 rs117266082 1 T:0.0024 T:0.0008 T:0.0043 NA T:0 T:0.008 T:0 T:0.0016 T:0.0044 ACG C,T 0.00224 10:60261901 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 synonymous_variant 1.41615 0.46345 0.04061 0.638212 0.7884334 0 1 TRUE 0.00216417 ENSE00001787987_007 ENSE00001787987 007 10 62021587 62021756 - 30 99 41 G T 62021671 1068 86 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATAAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261912 60261913 60261913 exon 45 0.4545455 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATAAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 600 529 0.9885665 1 0.9942833 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.02456378 0.1764919 0.906329 0.8937554 NA 0.1005278 NA FALSE NA 1 1.308 rs149928208 synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 8/44 rs149928208 1 NA T:0.0002 T:0 TGA G,T 8.237e-06 10:60261913 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 synonymous_variant 0.438547 0.98274 0.89943 0.638212 0.7711112 0 1 TRUE 4.06888e-06 ENSE00001787987_009 ENSE00001787987 009 10 62021587 62021756 - 30 99 41 G A 62021698 1070 59 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTTCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261939 60261940 60261940 exon 18 0.1818182 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTTCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 1028 375 0.9981944 1 0.9990972 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.03419164 0.1764919 0.906329 0.8937554 NA 0.1053418 NA FALSE NA 0.964 0.131 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 8/44 1 NA GGA G,A 8.237e-06 10:60261940 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 synonymous_variant 0.344086 0.98256 0.86742 0.693126 0.7250934 0 1 TRUE NA ENSE00001787987_010 ENSE00001787987 010 10 62021587 62021756 - 30 99 41 C T 62021701 1071 56 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCACTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261942 60261943 60261943 exon 15 0.1515152 TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCACTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 519 1172 0.995164 0.9946477 0.9949059 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.03116123 0.1711396 0.906329 0.8937554 NA 0.1011504 NA FALSE NA 0.005 -0.928 . synonymous_variant LOW ANK3 HGNC 494 ENST00000373827 8/44 1 NA GCG C,T 8.237e-06 10:60261943 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 synonymous_variant 1.579173 0.97729 0.18961 0.693126 0.7005962 0 1 TRUE 8.17241e-06 ENSE00001787987_012 ENSE00001787987 012 10 62021587 62021756 - 30 99 41 C T 62021728 1073 29 TGGCAGGAATCAATTGAATGTCTGCTATATTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261969 60261970 60261970 upstr_intron -13 -0.2926829 TGGCAGGAATCAATTGAATGTCTGCTATATTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 395 70 0.9988483 0.9172834 0.9580659 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.03484552 0.09377536 0.906329 0.8937554 NA 0.06431044 NA FALSE NA 0.977 0.313 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 7/43 1 NA ACA C,T 8.237e-06 10:60261970 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 intron_variant 0.982866 0.78714 0.75296 0.061011 0.7270836 0.403463 1 TRUE 4.10055e-06 ENSE00001787987_013 ENSE00001787987 013 10 62021587 62021756 - 30 99 41 T C 62021730 1074 27 TGGCAGGAATCAATTGAATGTCTGCTGTGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261971 60261972 60261972 upstr_intron -15 -0.3414634 TGGCAGGAATCAATTGAATGTCTGCTGTGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 254 892 0.9957495 0.9998227 0.9977861 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.03174677 0.1763146 0.906329 0.8937554 NA 0.1040307 NA FALSE NA 0 -2.655 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 7/43 1 NA ATA T,C 8.237e-06 10:60261972 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 intron_variant 0.505166 0.14536 0.01783 0.061011 0.5089492 0.24752 1 TRUE 4.10098e-06 ENSE00001787987_014 ENSE00001787987 014 10 62021587 62021756 - 30 99 41 A T 62021738 1075 19 TGGCAGGAATCAATTGAAAGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261979 60261980 60261980 upstr_intron -23 -0.5365854 TGGCAGGAATCAATTGAAAGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant 34 37 0.9775925 0.85 0.9137963 2620 707 1 0.9944178 0.9972089 0.8574435 0.9552144 0.9640028 0.8235081 0.120149 -0.1052144 0.03599723 0.1709098 0.906329 0.8937554 0.007467305 0.1034535 0.09598619 FALSE FALSE 0 -1.548 rs111438260 intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 7/43 rs111438260 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAT A,T 1.648e-05 10:60261980 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 intron_variant -0.889028 0.20978 0.2286 0.061011 0.504322 0.0821837 1 TRUE 1.65023e-05 ENSE00001787987_015 ENSE00001787987 015 10 62021587 62021756 - 30 99 41 A G 62021743 1076 14 TGGCAGGAATCAACTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 60261984 60261985 60261985 upstr_intron -28 -0.6585366 TGGCAGGAATCAACTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA mutant NA NA NA NA NA 682 666 1 0.9996479 0.9998239 0.8574435 0.9552144 0.9640028 0.8235081 NA NA 0.03599723 0.1761398 0.906329 0.8937554 NA 0.1060685 NA FALSE NA 0.001 0.291 . intron_variant MODIFIER ANK3 HGNC 494 ENST00000373827 7/43 1 NA AAT A,G 8.238e-06 10:60261985 ANK3 HGNC Symbol protein_coding 707192 ENSG00000151150 ENSE00002514748 intron_variant -0.249994 0.24431 0.16587 0.061011 0.5662667 0.0821837 1 TRUE 1.23983e-05 ENSE00001787987_BRK ENSE00001787987 BRK 10 62021587 62021756 - 30 99 41 A,G; T,T NA NA NA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACTTAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGCCAAGAGCACAGCAATGTGTAATACCTTTA 60261828 60261998 NA NA NA NA NA NA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACTTAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGCCAAGAGCACAGCAATGTGTAATACCTTTA TGGCAGGAATCAATTGAATGTCTGCTATGTTTTCTTTACAGAGTGGCTTCACTCCGCTCCACATAGCTGCTCACTATGGAAATATCAATGTAGCCACGTTGCTGTTAAACCGAGCGGCTGCTGTGGATTTCACCGCAAGGGTAAGAGCACAGCAATGTGTAATACCTTTA control NA NA NA NA NA 342 175 0 0 0 0.8574435 0.9552144 0.9640028 0.8235081 NA NA -0.9640028 -0.8235081 0.906329 0.8937554 NA -0.8937554 NA TRUE NA NA NA NA NA NA ANK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK3 NA NA NA ENSG00000151150 ENSE00002514748 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001788252_000 ENSE00001788252 000 6 31922954 31923123 - 42 75 53 NA NA NA NA NA CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA 31955176 31955346 NA NA NA NA NA NA CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA natural 272 344 0.8254331 0.8472788 0.8363559 290 621 0.9277928 0.9251863 0.9264896 0.8254331 0.8472788 0.9277928 0.9251863 0 0 0 0 0.8363559 0.9264896 0 0 0 FALSE FALSE NA NA NA NA NA CFB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NELFE NA NA NA ENSG00000204356 ENSE00003559714 NA NA NA NA NA NA NA 0.7562732 FALSE NA ENSE00001788252_010 ENSE00001788252 010 6 31922954 31923123 - 42 75 53 A C 31923019 716 105 TCCATCCCCAACCCCTCAGGGACAGAAATTAGGAGCCTTTACCTCTTGCAGGTCATCATCAGCAGCTATGCTCCTCTGGAACGGCTGGAAAGTGGGGACTGGTCCCTTCTCGGGGTCCTGGAGTGGTGAGAGACCTACCTCAGTGTGGAGCAGGAGGTTGCCCAACCATG 31955176 31955346 31955241 31955242 31955242 exon -24 0.6933333 CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATAGCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA mutant NA NA NA NA NA 80 189 0.9573949 0.9354104 0.9464026 0.8254331 0.8472788 0.9277928 0.9251863 NA NA 0.02960202 0.01022404 0.8363559 0.9264896 NA 0.01991303 NA FALSE NA 1 8.321 . downstream_gene_variant MODIFIER CFB HGNC 1037 ENST00000483004 1 NA GAT A,C 8.456e-06 6:31955242 NELFE HGNC Symbol protein_coding 7023 ENSG00000204356 ENSE00003559714 missense_variant 4.884769 0.99042 0.98995 0.706548 0.9936203 0 0.7562732 FALSE 4.24845e-06 ENSE00001788252_012 ENSE00001788252 012 6 31922954 31923123 - 42 75 53 G A 31923041 718 83 CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTTCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA 31955176 31955346 31955263 31955264 31955264 exon 30 0.4 CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTTCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA mutant NA NA NA NA NA 35 27 1 0.8 0.9 0.8254331 0.8472788 0.9277928 0.9251863 NA NA 0.07220716 -0.1251863 0.8363559 0.9264896 NA -0.02648959 NA FALSE NA 1 2.176 . downstream_gene_variant MODIFIER CFB HGNC 1037 ENST00000483004 1 NA GGA G,A 8.475e-06 6:31955264 NELFE HGNC Symbol protein_coding 7023 ENSG00000204356 ENSE00003559714 synonymous_variant 0.280454 0.96582 0.87239 0.706548 0.80425 0 0.7562732 FALSE 4.42568e-06 ENSE00001788252_020 ENSE00001788252 020 6 31922954 31923123 - 42 75 53 G A 31923109 726 15 CATGGTTGGGCAACTTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA 31955176 31955346 31955331 31955332 31955332 upstr_intron -39 -0.7169811 CATGGTTGGGCAACTTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA CATGGTTGGGCAACCTCCTGCTCCACACTGAGGTAGGTCTCTCACCACTCCAGGACCCCGAGAAGGGACCAGTCCCCACTTTCCAGCCGTTCCAGAGGAGCATATCTGCTGATGATGACCTGCAAGAGGTAAAGGCTCCTAATTTCTGTCCCTGAGGGGTTGGGGATGGA mutant NA NA NA NA NA 12 240 0.7749865 0.9152408 0.8451136 0.8254331 0.8472788 0.9277928 0.9251863 NA NA -0.1528064 -0.009945559 0.8363559 0.9264896 NA -0.08137596 NA FALSE NA 0.001 0.911 . downstream_gene_variant MODIFIER CFB HGNC 1037 ENST00000483004 1 NA AGG G,A 8.551e-06 6:31955332 NELFE HGNC Symbol protein_coding 7023 ENSG00000204356 ENSE00003559714 intron_variant 0.392383 0.2217 0.03867 0.099367 0.6279201 0.131693 0.7562732 FALSE 1.17673e-05 ENSE00001788381_000 ENSE00001788381 000 6 33144441 33144610 - 57 45 68 NA NA NA NA NA AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 NA NA NA NA NA NA AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT natural 1050 1495 0.85 0.8479085 0.8489543 4109 1722 0.7764108 0.6180717 0.6972413 0.85 0.8479085 0.7764108 0.6180717 0 0 0 0 0.8489543 0.6972413 0 0 0 FALSE FALSE NA NA NA NA NA COL11A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A2 NA NA NA ENSG00000204248 ENSE00001788381 NA NA NA NA NA NA NA 0.9999993 TRUE NA ENSE00001788381_001 ENSE00001788381 001 6 33144441 33144610 - 57 45 68 G A 33144457 865 154 AGGCTCTAGAGTCTGAATGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176679 33176680 33176680 downstr_intron 41 1.732143 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCATTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 33 275 0.8 0.8009188 0.8004594 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.02358917 0.1828471 0.8489543 0.6972413 NA 0.1032181 NA FALSE NA 0.001 0.682 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 25/64 1 NA AGT G,A 8.237e-06 6:33176680 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 intron_variant 0.206749 0.21861 0.07987 0.056701 0.506897 0.0821837 0.9999993 TRUE 1.26549e-05 ENSE00001788381_002 ENSE00001788381 002 6 33144441 33144610 - 57 45 68 G C 33144462 866 149 AGGCTCTAGAGTCTGAGTGGACACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176684 33176685 33176685 downstr_intron 36 1.642857 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTGTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 592 1396 0.8100166 0.746133 0.7780748 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.03360576 0.1280613 0.8489543 0.6972413 NA 0.08083352 NA FALSE NA 0 -0.714 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 25/64 1 NA AGA G,C 8.237e-06 6:33176685 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 intron_variant -0.334682 0.24359 0.08325 0.056701 0.4629977 0.0436289 0.9999993 TRUE 8.37367e-06 ENSE00001788381_003 ENSE00001788381 003 6 33144441 33144610 - 57 45 68 C A 33144466 867 145 AGGCTCTAGAGTCTGAGTGGAGACTACCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176688 33176689 33176689 downstr_intron 32 1.571429 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGTAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 117 104 0.8484729 0.8793439 0.8639084 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.07206203 0.2612722 0.8489543 0.6972413 NA 0.1666671 NA FALSE NA 0 0.578 rs41317098 intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 25/64 rs41317098 1 A:0.1024 A:0.3404 A:0.0346 NA A:0 A:0.0388 A:0 A:0.2746 A:0.0428 TCC C,A 0.052 6:33176689 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 intron_variant 0.182866 0.21643 0.03709 0.056701 0.5141567 0.0601569 0.9999993 TRUE 0.0473386 ENSE00001788381_008 ENSE00001788381 008 6 33144441 33144610 - 57 45 68 G T 33144519 872 92 AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGTGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176741 33176742 33176742 exon -22 0.5333333 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCACCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 247 68 0.8 0.8 0.8 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.02358917 0.1819283 0.8489543 0.6972413 NA 0.1027587 NA FALSE NA 0.001 -1.832 . synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 25/65 rs566946994&COSM3625632 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GGG G,T 3.295e-05 6:33176742 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 synonymous_variant 0.602317 0.8552 0.18286 0.615465 0.6264047 0 0.9999993 TRUE 1.63103e-05 ENSE00001788381_009 ENSE00001788381 009 6 33144441 33144610 - 57 45 68 C T 33144528 873 83 AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCTTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176750 33176751 33176751 exon 15 0.3333333 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAAGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 25 179 0.8625954 0.9491296 0.9058625 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.08618454 0.3310579 0.8489543 0.6972413 NA 0.2086212 NA FALSE NA 0.985 -0.045 . synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 25/65 rs368770525 1 NA T:0.0005 T:0 CCT C,T 6.589e-05 6:33176751 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 synonymous_variant 1.254112 0.96253 0.63335 0.615465 0.5878117 0 0.9999993 TRUE 4.4843e-05 ENSE00001788381_010 ENSE00001788381 010 6 33144441 33144610 - 57 45 68 G A 33144537 874 74 AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGATGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176759 33176760 33176760 exon 6 0.1333333 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCATCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 90 734 0.8 0.8 0.8 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.02358917 0.1819283 0.8489543 0.6972413 NA 0.1027587 NA FALSE NA 1 0.748 rs144713192 synonymous_variant LOW COL11A2 HGNC 2187 ENST00000395197 25/65 rs144713192 1 NA A:0 A:0.0001 GGT G,A 1.647e-05 6:33176760 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 synonymous_variant -0.298785 0.95498 0.45567 0.615465 0.3674432 0 0.9999993 TRUE 1.63132e-05 ENSE00001788381_011 ENSE00001788381 011 6 33144441 33144610 - 57 45 68 C T 33144541 875 70 AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGATCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176763 33176764 33176764 exon 2 0.04444444 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGATCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 79 1321 0.9393389 0.8794227 0.9093808 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.1629281 0.261351 0.8489543 0.6972413 NA 0.2121395 NA FALSE NA 1 5.142 . missense_variant&splice_region_variant MODERATE COL11A2 HGNC 2187 ENST00000395197 25/65 1 probably_damaging(1) NA ACC C,T 8.237e-06 6:33176764 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 missense_variant 5.598491 0.99004 0.98614 0.615465 0.9981689 0 0.9999993 TRUE 4.08167e-06 ENSE00001788381_012 ENSE00001788381 012 6 33144441 33144610 - 57 45 68 G T 33144555 876 56 AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGTATAGAAAATGTGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176777 33176778 33176778 upstr_intron -13 -0.1764706 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATACCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 1762 36 0.00620442 0 0.00310221 0.85 0.8479085 0.7764108 0.6180717 NA NA -0.7702064 -0.6180717 0.8489543 0.6972413 NA -0.6941391 NA TRUE NA 0 0.729 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 1 NA GGA G,T 8.237e-06 6:33176778 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 intron_variant -0.408213 0.20968 0.26096 0.056701 0.3832414 0.132702 0.9999993 TRUE 4.09487e-06 ENSE00001788381_013 ENSE00001788381 013 6 33144441 33144610 - 57 45 68 T G 33144566 877 45 AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGGGACCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176788 33176789 33176789 upstr_intron -24 -0.3382353 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCCCATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 152 273 0 0 0 0.85 0.8479085 0.7764108 0.6180717 NA NA -0.7764108 -0.6180717 0.8489543 0.6972413 NA -0.6972413 NA TRUE NA 0 0.63 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 1 NA GTG T,G 1.647e-05 6:33176789 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 intron_variant 0.411551 0.19515 0.0463 0.056701 0.7737116 0.118855 0.9999993 TRUE 1.23205e-05 ENSE00001788381_014 ENSE00001788381 014 6 33144441 33144610 - 57 45 68 C T 33144569 878 42 AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGATCAGTGGCCCCTGTCACCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176791 33176792 33176792 upstr_intron -27 -0.3823529 AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGATCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 289 133 0.9994693 1 0.9997347 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.2230585 0.3819283 0.8489543 0.6972413 NA 0.3024934 NA FALSE NA 0.001 1.166 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 1 NA ACC C,T 6.59e-05 6:33176792 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 intron_variant 0.306648 0.17954 0.01087 0.056701 0.5415595 0.119835 0.9999993 TRUE 6.58973e-05 ENSE00001788381_016 ENSE00001788381 016 6 33144441 33144610 - 57 45 68 C T 33144585 880 26 AGGCTCTAGAGTCTGAGTGGAGACTCCCTCAGGGGATAAAGACATGGAAGATCTCACCTGGTTTCCTTTGGTTCCAGGGGGACCTTCCTTCCCTGGGTGACCCTGGGAGTAAGGGATAGAAAATGTGACCAGTGGCCCCTGTCATCCTCTCTGCACCCCTCCCTACACTT 33176663 33176833 33176807 33176808 33176808 upstr_intron -43 -0.6176471 AAGTGTAGGGAGGGGTGCAGAGAGGATGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT AAGTGTAGGGAGGGGTGCAGAGAGGGTGACAGGGGCCACTGGTCACATTTTCTATCCCTTACTCCCAGGGTCACCCAGGGAAGGAAGGTCCCCCTGGAACCAAAGGAAACCAGGTGAGATCTTCCATGTCTTTATCCCCTGAGGGAGTCTCCACTCAGACTCTAGAGCCT mutant NA NA NA NA NA 41 24 0.8 0.8 0.8 0.85 0.8479085 0.7764108 0.6180717 NA NA 0.02358917 0.1819283 0.8489543 0.6972413 NA 0.1027587 NA FALSE NA 0 -0.185 . intron_variant MODIFIER COL11A2 HGNC 2187 ENST00000395197 24/64 rs534080497 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 ACC C,T 0.0002472 6:33176808 COL11A2 HGNC Symbol protein_coding 29818 ENSG00000204248 ENSE00001788381 intron_variant 0.313015 0.17784 0.04376 0.056701 0.6096602 0.144821 0.9999993 TRUE 0.000287962 ENSE00001788593_000 ENSE00001788593 000 10 49376608 49376777 - 30 99 41 NA NA NA NA NA ATGCAAGCCCAAATCTAACAGTGAATCTTGGTTTTTCGCAGGAGGTGCTGCATTTACTGAGAGGGGCCCCACAGGAAGTCACGCTCCTCCTTTGCCGACCCCCTCCAGGTGCGCTGCCTGAGCTGGAGCAGGAATGGCAGGTAGGCTGCAGTGTCTTCTACTCTCTCTAC 48168564 48168734 NA NA NA NA NA NA ATGCAAGCCCAAATCTAACAGTGAATCTTGGTTTTTCGCAGGAGGTGCTGCATTTACTGAGAGGGGCCCCACAGGAAGTCACGCTCCTCCTTTGCCGACCCCCTCCAGGTGCGCTGCCTGAGCTGGAGCAGGAATGGCAGGTAGGCTGCAGTGTCTTCTACTCTCTCTAC ATGCAAGCCCAAATCTAACAGTGAATCTTGGTTTTTCGCAGGAGGTGCTGCATTTACTGAGAGGGGCCCCACAGGAAGTCACGCTCCTCCTTTGCCGACCCCCTCCAGGTGCGCTGCCTGAGCTGGAGCAGGAATGGCAGGTAGGCTGCAGTGTCTTCTACTCTCTCTAC natural NA NA NA NA NA 788 2154 0.9951021 0.9921933 0.9936477 NA NA 0.9951021 0.9921933 NA NA 0 0 NA 0.9936477 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003469469 NA NA NA NA NA NA NA NA NA NA ENSE00001788956_000 ENSE00001788956 000 1 103444363 103444532 - 53 54 63 NA NA NA NA NA TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 NA NA NA NA NA NA TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC natural NA NA NA NA NA 554 2127 0.7864232 0.6170394 0.7017313 NA NA 0.7864232 0.6170394 NA NA 0 0 NA 0.7017313 NA 0 NA FALSE NA NA NA NA NA NA COL11A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL11A1 NA NA NA ENSG00000060718 ENSE00001788956 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001788956_001 ENSE00001788956 001 1 103444363 103444532 - 53 54 63 C T 103444381 2887 152 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTATAGATTTTTTTTCCAGGC 102978806 102978976 102978824 102978825 102978825 downstr_intron 35 1.673077 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTATAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 373 173 0.9978847 1 0.9989423 NA NA 0.7864232 0.6170394 NA NA 0.2114615 0.3829606 NA 0.7017313 NA 0.297211 NA FALSE NA 0 -0.211 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 32/64 rs560757067 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 ACA C,T 1.647e-05 1:102978825 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant -0.145457 0.24491 0.16368 0.061011 0.1859476 0.0448725 0.9999806 TRUE 8.1242e-06 ENSE00001788956_002 ENSE00001788956 002 1 103444363 103444532 - 53 54 63 T G 103444384 2888 149 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTCCTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978827 102978828 102978828 downstr_intron 32 1.615385 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTCCTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 49 36 1 1 1 NA NA 0.7864232 0.6170394 NA NA 0.2135768 0.3829606 NA 0.7017313 NA 0.2982687 NA FALSE NA 0 -0.248 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 32/64 1 NA GTA T,G 8.236e-06 1:102978828 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant 0.154331 0.26036 0.09033 0.061011 0.5244217 0.0448725 0.9999806 TRUE 4.06197e-06 ENSE00001788956_003 ENSE00001788956 003 1 103444363 103444532 - 53 54 63 C T 103444390 2889 143 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGAATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978833 102978834 102978834 downstr_intron 26 1.5 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGAATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 174 117 1 0.9705061 0.9852531 NA NA 0.7864232 0.6170394 NA NA 0.2135768 0.3534667 NA 0.7017313 NA 0.2835218 NA FALSE NA 0 0.012 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 32/64 rs373650568 1 NA T:0 T:0.0002 TCC C,T 8.236e-06 1:102978834 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant 0.096195 0.21995 0.0765 0.061011 0.3930542 0.0865689 0.9999806 TRUE 1.21861e-05 ENSE00001788956_004 ENSE00001788956 004 1 103444363 103444532 - 53 54 63 C G 103444391 2890 142 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTCGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978834 102978835 102978835 downstr_intron 25 1.480769 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTCGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 96 99 0.9910983 0.9956562 0.9933772 NA NA 0.7864232 0.6170394 NA NA 0.2046751 0.3786168 NA 0.7017313 NA 0.2916459 NA FALSE NA 0.006 1.019 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 32/64 1 NA CCA C,G 8.236e-06 1:102978835 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant 0.131161 0.39761 0.43449 0.061011 0.3465139 0.0841719 0.9999806 TRUE 8.12348e-06 ENSE00001788956_005 ENSE00001788956 005 1 103444363 103444532 - 53 54 63 G T 103444403 2891 130 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTAATTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978846 102978847 102978847 downstr_intron 13 1.25 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTAATTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 263 295 0.9990573 0.9922885 0.9956729 NA NA 0.7864232 0.6170394 NA NA 0.2126341 0.375249 NA 0.7017313 NA 0.2939416 NA FALSE NA 0 -0.266 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 32/64 rs371366970 1 NA T:0.0002 T:0 AGT G,T 8.236e-06 1:102978847 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant -0.378872 0.20103 0.11442 0.061011 0.3386757 0.0448725 0.9999806 TRUE NA ENSE00001788956_007 ENSE00001788956 007 1 103444363 103444532 - 53 54 63 G C 103444408 2893 125 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACGTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978851 102978852 102978852 downstr_intron 8 1.153846 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACGTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 87 1420 0.992878 0.9515626 0.9722203 NA NA 0.7864232 0.6170394 NA NA 0.2064548 0.3345232 NA 0.7017313 NA 0.270489 NA FALSE NA 0 -0.477 . splice_region_variant&intron_variant LOW COL11A1 HGNC 2186 ENST00000512756 32/64 1 NA AGG G,C 8.236e-06 1:102978852 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 splice_region_variant -0.605431 0.14966 0.08695 0.061011 0.2733286 0.0851259 0.9999806 TRUE 4.06141e-06 ENSE00001788956_009 ENSE00001788956 009 1 103444363 103444532 - 53 54 63 G A 103444437 2895 96 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCTACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978880 102978881 102978881 exon -22 0.6111111 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCTACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 2311 335 0.9987172 0.9837752 0.9912462 NA NA 0.7864232 0.6170394 NA NA 0.212294 0.3667358 NA 0.7017313 NA 0.2895149 NA FALSE NA 0.586 -0.25 . synonymous_variant LOW COL11A1 HGNC 2186 ENST00000512756 32/65 1 NA TGG G,A 8.236e-06 1:102978881 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 missense_variant 1.352131 0.96801 0.48582 0.693126 0.6356444 0 0.9999806 TRUE 4.06177e-06 ENSE00001788956_010 ENSE00001788956 010 1 103444363 103444532 - 53 54 63 C A 103444448 2896 85 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTTCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978891 102978892 102978892 exon 22 0.4074074 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTTCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 26 24 0.9883661 1 0.994183 NA NA 0.7864232 0.6170394 NA NA 0.2019429 0.3829606 NA 0.7017313 NA 0.2924517 NA FALSE NA 1 3.904 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 32/65 1 probably_damaging(0.935) NA GCA C,A 8.236e-06 1:102978892 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 missense_variant 3.363681 0.98687 0.94838 0.693126 0.990674 0 0.9999806 TRUE 4.06256e-06 ENSE00001788956_011 ENSE00001788956 011 1 103444363 103444532 - 53 54 63 C T 103444462 2897 71 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCAAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978905 102978906 102978906 exon 8 0.1481481 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCAAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 294 351 0.9908339 0.9807417 0.9857878 NA NA 0.7864232 0.6170394 NA NA 0.2044107 0.3637023 NA 0.7017313 NA 0.2840565 NA FALSE NA 1 7.342 . missense_variant MODERATE COL11A1 HGNC 2186 ENST00000512756 32/65 1 probably_damaging(0.91) NA TCG C,T 8.236e-06 1:102978906 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 missense_variant 6.441068 0.99453 0.98865 0.693126 0.9995271 0 0.9999806 TRUE 4.06382e-06 ENSE00001788956_014 ENSE00001788956 014 1 103444363 103444532 - 53 54 63 C T 103444483 2900 50 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTATTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978926 102978927 102978927 upstr_intron -14 -0.2063492 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTATTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 194 164 1 0.8565854 0.9282927 NA NA 0.7864232 0.6170394 NA NA 0.2135768 0.239546 NA 0.7017313 NA 0.2265614 NA FALSE NA 0 -0.409 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 31/64 1 NA ACA C,T 8.237e-06 1:102978927 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant -0.208616 0.19764 0.06064 0.061011 0.2962296 0.111096 0.9999806 TRUE 4.0659e-06 ENSE00001788956_015 ENSE00001788956 015 1 103444363 103444532 - 53 54 63 A G 103444493 2901 40 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGCTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978936 102978937 102978937 upstr_intron -24 -0.3650794 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGCTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 48 347 1 1 1 NA NA 0.7864232 0.6170394 NA NA 0.2135768 0.3829606 NA 0.7017313 NA 0.2982687 NA FALSE NA 0 0.228 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 31/64 1 NA AAC A,G 8.237e-06 1:102978937 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant 0.029516 0.23853 0.07282 0.061011 0.355444 0.107945 0.9999806 TRUE 4.06607e-06 ENSE00001788956_016 ENSE00001788956 016 1 103444363 103444532 - 53 54 63 C T 103444495 2902 38 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGAGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978938 102978939 102978939 upstr_intron -26 -0.3968254 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGAGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 315 603 0.9947907 0.9798038 0.9872973 NA NA 0.7864232 0.6170394 NA NA 0.2083675 0.3627644 NA 0.7017313 NA 0.285566 NA FALSE NA 0 -1.844 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 31/64 1 NA CCC C,T 8.237e-06 1:102978939 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant -0.039619 0.20857 0.02505 0.061011 0.3862122 0.111096 0.9999806 TRUE 4.06663e-06 ENSE00001788956_017 ENSE00001788956 017 1 103444363 103444532 - 53 54 63 A G 103444497 2903 36 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTCGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978940 102978941 102978941 upstr_intron -28 -0.4285714 TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTCGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 558 85 0.9987394 0.9769855 0.9878625 NA NA 0.7864232 0.6170394 NA NA 0.2123162 0.3599461 NA 0.7017313 NA 0.2861312 NA FALSE NA 0 -0.282 rs1903787 intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 31/64 rs1903787 1 G:0.2841 G:0.556 G:0.2651 NA G:0.0873 G:0.2634 G:0.1544 G:0.4893 G:0.2637 CAA G,G 0.261 1:102978941 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant 0.016755 0.0847 0.00363 0.061011 0.3753723 0.105331 0.9999806 TRUE 0.257205 ENSE00001788956_018 ENSE00001788956 018 1 103444363 103444532 - 53 54 63 C T 103444506 2904 27 TGATTTAGTGTCTTTGGATTTGTCTGACATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978949 102978950 102978950 upstr_intron -37 -0.5714286 TGATTTAGTGTCTTTGGATTTGTCTGACATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 835 104 1 1 1 NA NA 0.7864232 0.6170394 NA NA 0.2135768 0.3829606 NA 0.7017313 NA 0.2982687 NA FALSE NA 0 -0.993 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 31/64 1 NA GCC C,T 8.237e-06 1:102978950 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant 0.010096 0.22604 0.07313 0.061011 0.3947626 0.107891 0.9999806 TRUE 4.07034e-06 ENSE00001788956_019 ENSE00001788956 019 1 103444363 103444532 - 53 54 63 C G 103444516 2905 17 TGATTTAGTGTCTTTGCATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC 102978806 102978976 102978959 102978960 102978960 upstr_intron -47 -0.7301587 TGATTTAGTGTCTTTGCATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC TGATTTAGTGTCTTTGGATTTGTCTGGCATTAGTTTGGGTTCATCTTTTGTTCTCATCTGCAGGGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAGGTATCACCTGTACTTTTTCTGTTTGGATGTTACTGTAGATTTTTTTTCCAGGC mutant NA NA NA NA NA 206 72 1 1 1 NA NA 0.7864232 0.6170394 NA NA 0.2135768 0.3829606 NA 0.7017313 NA 0.2982687 NA FALSE NA 0 -1.464 . intron_variant MODIFIER COL11A1 HGNC 2186 ENST00000512756 31/64 1 NA TCC C,G 8.237e-06 1:102978960 COL11A1 HGNC Symbol protein_coding 232405 ENSG00000060718 ENSE00001788956 intron_variant 0.144659 0.22052 0.06806 0.061011 0.4634718 0.0647611 0.9999806 TRUE NA ENSE00001789671_000 ENSE00001789671 000 1 19215823 19215992 - 33 93 44 NA NA NA NA NA AGGGGCTGAGCTCTGCCCACCCGCTGGACATACCGACACTTGGTACTGCACGTCCGACGTCCACACCTCCTCATCCCCCACCACGCATGGGATGGCTTCCATCCGGCCCTTCAGGTCCTTCAAGGCCTGGGGAGAGGGACAAGAGTGGGTATGGTCACCGCCTTCCTCGC 18889328 18889498 NA NA NA NA NA NA GCGAGGAAGGCGGTGACCATACCCACTCTTGTCCCTCTCCCCAGGCCTTGAAGGACCTGAAGGGCCGGATGGAAGCCATCCCATGCGTGGTGGGGGATGAGGAGGTGTGGACGTCGGACGTGCAGTACCAAGTGTCGGTATGTCCAGCGGGTGGGCAGAGCTCAGCCCCT GCGAGGAAGGCGGTGACCATACCCACTCTTGTCCCTCTCCCCAGGCCTTGAAGGACCTGAAGGGCCGGATGGAAGCCATCCCATGCGTGGTGGGGGATGAGGAGGTGTGGACGTCGGACGTGCAGTACCAAGTGTCGGTATGTCCAGCGGGTGGGCAGAGCTCAGCCCCT natural NA NA NA NA NA 80 1280 0.9958105 0.9998467 0.9978286 NA NA 0.9958105 0.9998467 NA NA 0 0 NA 0.9978286 NA 0 NA FALSE NA NA NA NA NA NA ALDH4A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH4A1 NA NA NA ENSG00000159423 ENSE00003467881 NA NA NA NA NA NA NA 0.0004340435 FALSE NA ENSE00001789671_BRK ENSE00001789671 BRK 1 19215823 19215992 - 33 93 44 A,G; T,T NA NA NA GCGAGGAAGGCGGTGACCATACCCACTCTTGTCCCTCTCCCCTTGCCTTGAAGGACCTGAAGGGCCGGATGGAAGCCATCCCATGCGTGGTGGGGGATGAGGAGGTGTGGACGTCGGACGTGCAGTACCAAGTGTCGCCATGTCCAGCGGGTGGGCAGAGCTCAGCCCCT 18889328 18889498 NA NA NA NA NA NA GCGAGGAAGGCGGTGACCATACCCACTCTTGTCCCTCTCCCCTTGCCTTGAAGGACCTGAAGGGCCGGATGGAAGCCATCCCATGCGTGGTGGGGGATGAGGAGGTGTGGACGTCGGACGTGCAGTACCAAGTGTCGCCATGTCCAGCGGGTGGGCAGAGCTCAGCCCCT GCGAGGAAGGCGGTGACCATACCCACTCTTGTCCCTCTCCCCAGGCCTTGAAGGACCTGAAGGGCCGGATGGAAGCCATCCCATGCGTGGTGGGGGATGAGGAGGTGTGGACGTCGGACGTGCAGTACCAAGTGTCGGTATGTCCAGCGGGTGGGCAGAGCTCAGCCCCT control 45 47 0 0 0 NA NA NA NA NA NA NA 0.9958105 0.9998467 NA NA NA NA NA 0.9978286 NA NA NA NA NA NA NA NA NA NA ALDH4A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH4A1 NA NA NA ENSG00000159423 ENSE00003467881 NA NA NA NA NA NA NA 0.0004340435 FALSE NA ENSE00001790337_000 ENSE00001790337 000 8 41393832 41394001 + 47 87 36 NA NA NA NA NA AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 NA NA NA NA NA NA AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG natural 31 50 0.9867207 0.989932 0.9883263 2131 3132 0.95585 0.882975 0.9194125 0.9867207 0.989932 0.95585 0.882975 0 0 0 0 0.9883263 0.9194125 0 0 0 FALSE FALSE NA NA NA NA NA RP11-360L9.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC009630.1 NA NA NA ENSG00000253133 ENSE00003554215 NA NA NA NA NA NA NA NA NA NA ENSE00001790337_BRK ENSE00001790337 BRK 8 41393832 41394001 + 47 87 36 A,G; T,T NA NA NA AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTTTGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGCCAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 NA NA NA NA NA NA AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTTTGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGCCAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG control NA NA NA NA NA 968 432 0.02491248 0 0.01245624 0.9867207 0.989932 0.95585 0.882975 NA NA -0.9309375 -0.882975 0.9883263 0.9194125 NA -0.9069562 NA TRUE NA NA NA NA NA NA RP11-360L9.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC009630.1 NA NA NA ENSG00000253133 ENSE00003554215 NA NA NA NA NA NA NA NA NA NA ENSE00001790785_000 ENSE00001790785 000 3 38012854 38013023 + 44 93 33 NA NA NA NA NA GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 NA NA NA NA NA NA GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC natural 88 62 0.9997145 0.9985363 0.9991254 2962 3407 0.9798669 0.9973887 0.9886278 0.9997145 0.9985363 0.9798669 0.9973887 0 0 0 0 0.9991254 0.9886278 0 0 0 FALSE FALSE NA NA NA NA NA CTDSPL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTDSPL NA NA NA ENSG00000144677 ENSE00003462368 NA NA NA NA NA NA NA 0.08884819 FALSE NA ENSE00001790785_001 ENSE00001790785 001 3 38012854 38013023 + 44 93 33 C G 38012867 511 14 GCAACTGCCACATGTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971375 37971376 37971376 upstr_intron -31 -0.6818182 GCAACTGCCACATGTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 1970 1914 0.9336363 0.9532136 0.943425 0.9997145 0.9985363 0.9798669 0.9973887 NA NA -0.04623057 -0.04417501 0.9991254 0.9886278 NA -0.04520279 NA FALSE NA 0.001 1.652 . intron_variant MODIFIER CTDSPL HGNC 16890 ENST00000447745 2/6 1 NA TCT C,G 8.238e-06 3:37971376 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 intron_variant 1.371888 0.41545 0.34056 0.062308 0.7702925 0.916318 0.08884819 FALSE 4.25829e-06 ENSE00001790785_002 ENSE00001790785 002 3 38012854 38013023 + 44 93 33 C A 38012871 512 18 GCAACTGCCACATCTGAACAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971379 37971380 37971380 upstr_intron -27 -0.5909091 GCAACTGCCACATCTGAACAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 3089 2766 0.978348 0.9979357 0.9881419 0.9997145 0.9985363 0.9798669 0.9973887 NA NA -0.001518938 0.0005470837 0.9991254 0.9886278 NA -0.0004859273 NA FALSE NA 0.001 -0.196 . intron_variant MODIFIER CTDSPL HGNC 16890 ENST00000447745 2/6 1 NA ACC C,A 4.943e-05 3:37971380 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 intron_variant 1.907684 0.17746 0.07333 0.062308 0.8510088 0.194016 0.08884819 FALSE 2.94291e-05 ENSE00001790785_003 ENSE00001790785 003 3 38012854 38013023 + 44 93 33 G A 38012878 513 25 GCAACTGCCACATCTGACCAGCCTACTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971386 37971387 37971387 upstr_intron -20 -0.4318182 GCAACTGCCACATCTGACCAGCCTACTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 244 112 1 0.9917836 0.9958918 0.9997145 0.9985363 0.9798669 0.9973887 NA NA 0.02013308 -0.005605058 0.9991254 0.9886278 NA 0.007264013 NA FALSE NA 0 -0.124 . intron_variant MODIFIER CTDSPL HGNC 16890 ENST00000447745 2/6 1 NA TGC G,A 5.766e-05 3:37971387 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 intron_variant 1.863023 0.21959 0.1019 0.062308 0.842924 0.262375 0.08884819 FALSE 4.55683e-05 ENSE00001790785_004 ENSE00001790785 004 3 38012854 38013023 + 44 93 33 C T 38012889 514 36 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGTCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971397 37971398 37971398 upstr_intron -9 -0.1818182 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGTCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 2274 829 0.9926254 0.9380101 0.9653177 0.9997145 0.9985363 0.9798669 0.9973887 NA NA 0.01275845 -0.05937853 0.9991254 0.9886278 NA -0.02331004 NA FALSE NA 0.769 1.281 . intron_variant MODIFIER CTDSPL HGNC 16890 ENST00000447745 2/6 1 NA GCC C,T 0.0003212 3:37971398 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 intron_variant 2.97847 0.66115 0.17074 0.062308 0.8456853 0.954591 0.08884819 FALSE 0.000168037 ENSE00001790785_005 ENSE00001790785 005 3 38012854 38013023 + 44 93 33 C G 38012890 515 37 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCGATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971398 37971399 37971399 upstr_intron -8 -0.1590909 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCGATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 346 489 0.994397 0.9166973 0.9555471 0.9997145 0.9985363 0.9798669 0.9973887 NA NA 0.01453004 -0.08069137 0.9991254 0.9886278 NA -0.03308066 NA FALSE NA 0.039 0.063 . splice_region_variant&intron_variant LOW CTDSPL HGNC 16890 ENST00000447745 2/6 1 NA CCA C,G 8.237e-06 3:37971399 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 splice_region_variant 1.535114 0.32031 0.05822 0.062308 0.7969028 0.283924 0.08884819 FALSE NA ENSE00001790785_006 ENSE00001790785 006 3 38012854 38013023 + 44 93 33 T C 38012903 516 50 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTACGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971411 37971412 37971412 exon 6 0.06451613 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTACGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 151 2125 1 0.9998207 0.9999104 0.9997145 0.9985363 0.9798669 0.9973887 NA NA 0.02013308 0.002432053 0.9991254 0.9886278 NA 0.01128257 NA FALSE NA 0.136 -0.533 . synonymous_variant LOW CTDSPL HGNC 16890 ENST00000447745 3/7 1 NA ATG T,C 9.06e-05 3:37971412 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 synonymous_variant -0.254731 0.92507 0.16506 0.706298 0.7212704 0 0.08884819 FALSE 7.33706e-05 ENSE00001790785_007 ENSE00001790785 007 3 38012854 38013023 + 44 93 33 G A 38012909 517 56 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTAAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971417 37971418 37971418 exon 12 0.1290323 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTAAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 1329 546 0.9331071 0.9997102 0.9664087 0.9997145 0.9985363 0.9798669 0.9973887 NA NA -0.04675979 0.002321578 0.9991254 0.9886278 NA -0.02221911 NA FALSE NA 1 0.457 . synonymous_variant LOW CTDSPL HGNC 16890 ENST00000447745 3/7 1 NA TGA G,A 1.647e-05 3:37971418 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 synonymous_variant 1.229278 0.96248 0.89412 0.706298 0.753266 0 0.08884819 FALSE 4.07256e-06 ENSE00001790785_008 ENSE00001790785 008 3 38012854 38013023 + 44 93 33 G A 38012914 518 61 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCAGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971422 37971423 37971423 exon 17 0.1827957 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCAGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 157 274 0.9973489 1 0.9986744 0.9997145 0.9985363 0.9798669 0.9973887 NA NA 0.01748198 0.002611344 0.9991254 0.9886278 NA 0.01004666 NA FALSE NA 1 9.7 . missense_variant MODERATE CTDSPL HGNC 16890 ENST00000447745 3/7 1 deleterious_low_confidence(0.04) probably_damaging(0.982) NA CGG G,A 8.236e-06 3:37971423 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 missense_variant 7.992541 0.99355 0.99514 0.706298 0.9994206 0 0.08884819 FALSE 4.06961e-06 ENSE00001790785_010 ENSE00001790785 010 3 38012854 38013023 + 44 93 33 A G 38012920 520 67 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACGTGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971428 37971429 37971429 exon 23 0.2473118 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACGTGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 19 267 1 0.9883771 0.9941886 0.9997145 0.9985363 0.9798669 0.9973887 NA NA 0.02013308 -0.009011523 0.9991254 0.9886278 NA 0.00556078 NA FALSE NA 1 5.984 . missense_variant MODERATE CTDSPL HGNC 16890 ENST00000447745 3/7 1 deleterious_low_confidence(0.05) possibly_damaging(0.479) NA CAT A,G 8.236e-06 3:37971429 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 missense_variant 3.585252 0.98505 0.98372 0.706298 0.992526 0 0.08884819 FALSE 4.06702e-06 ENSE00001790785_011 ENSE00001790785 011 3 38012854 38013023 + 44 93 33 G A 38012928 521 75 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACAAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971436 37971437 37971437 exon 31 0.3333333 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACAAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 462 399 1 0.9996176 0.9998088 0.9997145 0.9985363 0.9798669 0.9973887 NA NA 0.02013308 0.002228908 0.9991254 0.9886278 NA 0.011181 NA FALSE NA 1 7.719 . missense_variant MODERATE CTDSPL HGNC 16890 ENST00000447745 3/7 rs368304137 1 deleterious_low_confidence(0.03) benign(0.062) NA A:0.0005 A:0 CGA G,A 0.0001071 3:37971437 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 missense_variant 5.922822 0.99355 0.99137 0.706298 0.9984929 0 0.08884819 FALSE 0.000109803 ENSE00001790785_014 ENSE00001790785 014 3 38012854 38013023 + 44 93 33 T C 38012972 524 119 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTCACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 37971480 37971481 37971481 exon -19 0.8064516 GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTCACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC mutant NA NA NA NA NA 373 21 1 1 1 0.9997145 0.9985363 0.9798669 0.9973887 NA NA 0.02013308 0.002611344 0.9991254 0.9886278 NA 0.01137221 NA FALSE NA 0.999 0.701 . synonymous_variant LOW CTDSPL HGNC 16890 ENST00000447745 3/7 1 NA TTA T,C 5.766e-05 3:37971481 CTDSPL HGNC Symbol protein_coding 122509 ENSG00000144677 ENSE00003462368 synonymous_variant 0.831895 0.95573 0.46118 0.706298 0.8012886 0 0.08884819 FALSE 3.25579e-05 ENSE00001790785_BRK ENSE00001790785 BRK 3 38012854 38013023 + 44 93 33 A,G; T,T NA NA NA GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCTTGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGCCGAGTCCTGCTTCCCAGCCCCACACTCCCAGC 37971362 37971532 NA NA NA NA NA NA GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCTTGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGCCGAGTCCTGCTTCCCAGCCCCACACTCCCAGC GCAACTGCCACATCTGACCAGCCTGCTGTCTCCTGCCATTGCAGGTGTATGTGCTGAAGCGGCCACATGTGGACGAGTTCCTCCAGAGGATGGGGCAGCTTTTTGAATGTGTGCTCTTTACTGCCAGCTTGGCCAAGGTGAGTCCTGCTTCCCAGCCCCACACTCCCAGC control NA NA NA NA NA 774 1769 0.006278411 0.0003616911 0.003320051 0.9997145 0.9985363 0.9798669 0.9973887 NA NA -0.9735885 -0.997027 0.9991254 0.9886278 NA -0.9853077 NA TRUE NA NA NA NA NA NA CTDSPL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTDSPL NA NA NA ENSG00000144677 ENSE00003462368 NA NA NA NA NA NA NA 0.08884819 FALSE NA ENSE00001791385_000 ENSE00001791385 000 19 3014511 3014680 - 57 45 68 NA NA NA NA NA AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 NA NA NA NA NA NA AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT natural 57 85 0.995679 0.9714468 0.9835629 2866 2742 0.9874999 0.9313544 0.9594271 0.995679 0.9714468 0.9874999 0.9313544 0 0 0 0 0.9835629 0.9594271 0 0 0 FALSE FALSE NA NA NA NA NA TLE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE2 NA NA NA ENSG00000065717 ENSE00003523475 NA NA NA NA NA NA NA 0.000766445 FALSE NA ENSE00001791385_002 ENSE00001791385 002 19 3014511 3014680 - 57 45 68 G A 3014552 181 129 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTAGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014553 3014554 3014554 downstr_intron 16 1.285714 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCTAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 189 413 1 0.9588005 0.9794003 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.01250013 0.02744613 0.9835629 0.9594271 NA 0.01997313 NA FALSE NA 0 0.373 . downstream_gene_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 1 NA TGG G,A 8.275e-06 19:3014554 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 intron_variant 0.317982 0.14549 0.04594 0.080785 0.6359086 0.107617 0.000766445 FALSE NA ENSE00001791385_003 ENSE00001791385 003 19 3014511 3014680 - 57 45 68 C T 3014555 182 126 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGATCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014556 3014557 3014557 downstr_intron 13 1.232143 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGATCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 1535 945 0.9911145 0.9916956 0.991405 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.003614588 0.06034124 0.9835629 0.9594271 NA 0.03197791 NA FALSE NA 0 -0.088 . downstream_gene_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 rs549814896 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACC C,T 8.274e-06 19:3014557 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 intron_variant 0.403274 0.1419 0.06801 0.080785 0.618285 0.107617 0.000766445 FALSE 4.56972e-06 ENSE00001791385_004 ENSE00001791385 004 19 3014511 3014680 - 57 45 68 C T 3014565 183 116 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTTACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014566 3014567 3014567 downstr_intron 3 1.053571 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTAAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 334 1056 0.9968783 0.998288 0.9975832 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.009378454 0.0669336 0.9835629 0.9594271 NA 0.03815602 NA FALSE NA 0.993 -0.102 . downstream_gene_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 rs111915311 1 NA TCA C,T 0.0001241 19:3014567 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 splice_region_variant 1.037002 0.95909 0.56443 0.080785 0.6555949 0.371522 0.000766445 FALSE 7.16403e-05 ENSE00001791385_005 ENSE00001791385 005 19 3014511 3014680 - 57 45 68 C T 3014570 184 111 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTTGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014571 3014572 3014572 exon -3 0.9555556 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACAAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 503 171 0.8942487 0.9977429 0.9459958 0.995679 0.9714468 0.9874999 0.9313544 NA NA -0.0932512 0.06638854 0.9835629 0.9594271 NA -0.01343133 NA FALSE NA 1 6.943 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 9/9 1 NA TCG C,T 1.654e-05 19:3014572 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 missense_variant 2.760338 0.98744 0.99255 0.706298 0.9968492 0 0.000766445 FALSE 2.21612e-05 ENSE00001791385_006 ENSE00001791385 006 19 3014511 3014680 - 57 45 68 G A 3014571 185 110 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCATCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014572 3014573 3014573 exon -4 0.9333333 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGATGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 2851 1478 0.9962842 0.9432866 0.9697854 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.008784315 0.01193222 0.9835629 0.9594271 NA 0.01035827 NA FALSE NA 0.04 -0.974 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 9/9 rs374904106 1 NA A:0.0003 A:0.0001 CGT G,A 1.654e-05 19:3014573 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 synonymous_variant 0.295762 0.93822 0.03394 0.706298 0.3383785 0 0.000766445 FALSE 8.84486e-06 ENSE00001791385_007 ENSE00001791385 007 19 3014511 3014680 - 57 45 68 C G 3014593 186 88 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCAGTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014594 3014595 3014595 exon 20 0.4444444 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGACTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 613 206 0.9992592 0.9992315 0.9992453 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.0117593 0.0678771 0.9835629 0.9594271 NA 0.0398182 NA FALSE NA 1 6.967 NA NA NA TLE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:3014595 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 missense_variant 4.686496 0.98809 0.99023 0.706298 0.9754343 0 0.000766445 FALSE 4.39379e-06 ENSE00001791385_011 ENSE00001791385 011 19 3014511 3014680 - 57 45 68 G A 3014607 190 74 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCACTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014608 3014609 3014609 exon 6 0.1333333 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGTGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 1195 1463 0.9667075 0.9829407 0.9748241 0.995679 0.9714468 0.9874999 0.9313544 NA NA -0.02079241 0.05158628 0.9835629 0.9594271 NA 0.01539694 NA FALSE NA 0.017 -0.657 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 9/9 rs199912249 1 NA A:0 A:0.0007 CGC G,A 0.0006367 19:3014609 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 synonymous_variant 0.314675 0.46819 0.02937 0.706298 0.4918396 0 0.000766445 FALSE 0.000525702 ENSE00001791385_012 ENSE00001791385 012 19 3014511 3014680 - 57 45 68 C T 3014612 191 69 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTTCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014613 3014614 3014614 exon 1 0.02222222 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGAAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 644 1450 0.8043288 0.8084403 0.8063846 0.995679 0.9714468 0.9874999 0.9313544 NA NA -0.1831711 -0.1229141 0.9835629 0.9594271 NA -0.1530426 NA FALSE NA 1 6.967 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW TLE2 HGNC 11838 ENST00000590101 9/9 1 NA TCC C,T 8.269e-06 19:3014614 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 missense_variant 2.901536 0.98695 0.98817 0.706298 0.9973872 0 0.000766445 FALSE NA ENSE00001791385_013 ENSE00001791385 013 19 3014511 3014680 - 57 45 68 G A 3014631 192 50 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAAAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014632 3014633 3014633 upstr_intron -19 -0.2647059 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTTTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 582 312 0.9948172 0.9936777 0.9942474 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.00731735 0.06232327 0.9835629 0.9594271 NA 0.03482031 NA FALSE NA 0 0.498 . intron_variant&non_coding_transcript_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 8/8 1 NA AGA G,A 2.481e-05 19:3014633 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 intron_variant -0.290987 0.14315 0.01153 0.062308 0.3684441 0.129313 0.000766445 FALSE NA ENSE00001791385_014 ENSE00001791385 014 19 3014511 3014680 - 57 45 68 A G 3014639 193 42 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCGTTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014640 3014641 3014641 upstr_intron -27 -0.3823529 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAACGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 1306 1345 0.9960989 0.9230116 0.9595552 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.008598997 -0.008342818 0.9835629 0.9594271 NA 0.0001280894 NA FALSE NA 0.003 0.319 rs216273 intron_variant&non_coding_transcript_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 8/8 rs216273 1 G:0.3474 G:0.6589 G:0.317 NA G:0.2728 G:0.2117 G:0.1646 G:0.5564 G:0.1892 CAT A,G 0.252 19:3014641 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 intron_variant -0.061945 0.15923 0.01465 0.062308 0.5965293 0.0983025 0.000766445 FALSE 0.258409 ENSE00001791385_016 ENSE00001791385 016 19 3014511 3014680 - 57 45 68 A G 3014648 195 33 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCGTGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014649 3014650 3014650 upstr_intron -36 -0.5147059 AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCACGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 165 1020 0.99907 0.9984127 0.9987413 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.0115701 0.06705831 0.9835629 0.9594271 NA 0.0393142 NA FALSE NA 0 -1.005 . intron_variant&non_coding_transcript_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 8/8 1 NA CAT A,G 4.143e-05 19:3014650 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 intron_variant 0.006284 0.08472 0.00975 0.062308 0.6323289 0.120917 0.000766445 FALSE 4.69753e-05 ENSE00001791385_017 ENSE00001791385 017 19 3014511 3014680 - 57 45 68 C G 3014651 196 30 AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCACCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCCTGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGGCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 3014652 3014653 3014653 upstr_intron -39 -0.5588235 AGGAGCGGATAGGGGGTGTGGAGGCAGGGCCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT mutant NA NA NA NA NA 456 317 0.9887378 0.9781583 0.983448 0.995679 0.9714468 0.9874999 0.9313544 NA NA 0.001237951 0.04680388 0.9835629 0.9594271 NA 0.02402092 NA FALSE NA 0.002 0.554 . intron_variant&non_coding_transcript_variant MODIFIER TLE2 HGNC 11838 ENST00000590101 8/8 1 NA GCC C,G 8.286e-06 19:3014653 TLE2 HGNC Symbol protein_coding 49997 ENSG00000065717 ENSE00003523475 intron_variant -0.184022 0.09106 0.04645 0.062308 0.6764668 0.120917 0.000766445 FALSE NA ENSE00001791385_BRK ENSE00001791385 BRK 19 3014511 3014680 - 57 45 68 A,G; T,T NA NA NA AACCCACCCCTTGCTCTGTGCCCAGAGTCGGGGAAGAGGCTGGACCCCTGGACTCGGCTCGTCCACCACCAGATTGTAATCACTCTTGTCTTCGTCGCTTTCAAGGGGGAAGATGGGGGAGAGAGCTCATTGTGGTCATGCCCCTGCCTCCACACCCCCTATCCGCTCCT 3014512 3014682 NA NA NA NA NA NA AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCTTGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGCCGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT AGGAGCGGATAGGGGGTGTGGAGGCAGGGGCATGACCACAATGAGCTCTCTCCCCCATCTTCCCCCAGGAAAGCGACGAAGACAAGAGTGATTACAATCTGGTGGTGGACGAGGTGAGTCCAGGGGTCCAGCCTCTTCCCCGACTCTGGGCACAGAGCAAGGGGTGGGTT control 671 263 0 0.01992033 0.009960167 2657 355 0.007593212 0.0009020851 0.004247649 0.995679 0.9714468 0.9874999 0.9313544 -0.995679 -0.9515264 -0.9799067 -0.9304523 0.9835629 0.9594271 -0.9736027 -0.9551795 0.01842325 TRUE TRUE NA NA NA NA NA TLE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLE2 NA NA NA ENSG00000065717 ENSE00003523475 NA NA NA NA NA NA NA 0.000766445 FALSE NA ENSE00001792966_000 ENSE00001792966 000 10 99229362 99229531 - 41 78 51 NA NA NA NA NA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 NA NA NA NA NA NA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA natural NA NA NA NA NA 1270 1951 0.9268401 0.9944387 0.9606394 NA NA 0.9268401 0.9944387 NA NA 0 0 NA 0.9606394 NA 0 NA FALSE NA NA NA NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003559889 NA NA NA NA NA NA NA 0.831822 FALSE NA ENSE00001792966_001 ENSE00001792966 001 10 99229362 99229531 - 41 78 51 G A 99229378 2180 154 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCATTACTGTTAACTTTCAA 97469604 97469774 97469620 97469621 97469621 downstr_intron 25 1.625 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCATTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 788 421 0.9993191 1 0.9996595 NA NA 0.9268401 0.9944387 NA NA 0.07247896 0.005561292 NA 0.9606394 NA 0.03902013 NA FALSE NA 0.241 0.628 rs145704546 intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/29 rs145704546 1 A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 A:0 A:0.0008 AGT G,A 0.0002471 10:97469621 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 intron_variant 0.206014 0.19305 0.45127 0.295142 0.5728155 0.0476178 0.831822 FALSE 0.000232054 ENSE00001792966_002 ENSE00001792966 002 10 99229362 99229531 - 41 78 51 T G 99229385 2181 147 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATCAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469627 97469628 97469628 downstr_intron 18 1.45 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATCAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 920 551 0.8750576 0.9769278 0.9259927 NA NA 0.9268401 0.9944387 NA NA -0.05178249 -0.01751095 NA 0.9606394 NA -0.03464672 NA FALSE NA 0 0.215 . intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/29 1 NA TTA T,G 8.236e-06 10:97469628 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 intron_variant 0.210779 0.27477 0.1234 0.295142 0.5037049 0.0476178 0.831822 FALSE 4.06683e-06 ENSE00001792966_003 ENSE00001792966 003 10 99229362 99229531 - 41 78 51 A T 99229386 2182 146 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGAAAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469628 97469629 97469629 downstr_intron 17 1.425 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGAAAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 121 602 1 0.9984602 0.9992301 NA NA 0.9268401 0.9944387 NA NA 0.07315987 0.004021487 NA 0.9606394 NA 0.03859068 NA FALSE NA 0 -0.436 . intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/29 1 NA TAT A,T 8.236e-06 10:97469629 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 intron_variant -0.088521 0.25037 0.07269 0.295142 0.5533197 0.0476178 0.831822 FALSE 4.06679e-06 ENSE00001792966_004 ENSE00001792966 004 10 99229362 99229531 - 41 78 51 T A 99229387 2183 145 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGTTAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469629 97469630 97469630 downstr_intron 16 1.4 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGTTAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 373 228 1 1 1 NA NA 0.9268401 0.9944387 NA NA 0.07315987 0.005561292 NA 0.9606394 NA 0.03936058 NA FALSE NA 0 -0.119 . intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/29 rs376004966 1 NA ATC T,A 8.236e-06 10:97469630 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 intron_variant 0.223021 0.21294 0.08117 0.295142 0.6251108 0.0476178 0.831822 FALSE 8.13438e-06 ENSE00001792966_005 ENSE00001792966 005 10 99229362 99229531 - 41 78 51 G A 99229394 2184 138 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTTACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469636 97469637 97469637 downstr_intron 9 1.225 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTTACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 407 1126 0.9982683 0.9909595 0.9946139 NA NA 0.9268401 0.9944387 NA NA 0.07142814 -0.003479188 NA 0.9606394 NA 0.03397448 NA FALSE NA 0 -0.476 rs2275583 intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/29 rs2275583&COSM3998167 1 A:0.3241 A:0.1974 A:0.3184 NA A:0.4861 A:0.2694 A:0.3885 A:0.1868 A:0.2758 TGA G,A 0.297 10:97469637 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 intron_variant 0.496827 0.17662 0.00893 0.295142 0.5429953 0.055107 0.831822 FALSE 0.300937 ENSE00001792966_006 ENSE00001792966 006 10 99229362 99229531 - 41 78 51 C T 99229410 2185 122 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCACAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469652 97469653 97469653 exon -8 0.9102564 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCACAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 30 70 0.9843094 0.9977339 0.9910217 NA NA 0.9268401 0.9944387 NA NA 0.05746925 0.00329521 NA 0.9606394 NA 0.03038223 NA FALSE NA 1 5.52 rs29001306 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/30 rs29001306 1 NA GCG C,T 8.236e-06 10:97469653 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 missense_variant 8.019416 0.99467 0.99123 0.722319 0.999294 0 0.831822 FALSE 2.43835e-05 ENSE00001792966_007 ENSE00001792966 007 10 99229362 99229531 - 41 78 51 G A 99229411 2186 121 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCTGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469653 97469654 97469654 exon -9 0.8974359 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCTGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 54 246 1 1 1 NA NA 0.9268401 0.9944387 NA NA 0.07315987 0.005561292 NA 0.9606394 NA 0.03936058 NA FALSE NA 1 7.105 rs144196276 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/30 rs144196276 1 NA A:0 A:0.0001 CGG G,A 8.236e-06 10:97469654 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 missense_variant 7.88904 0.99037 0.98896 0.722319 0.999061 0 0.831822 FALSE NA ENSE00001792966_009 ENSE00001792966 009 10 99229362 99229531 - 41 78 51 G C 99229412 2188 120 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATGCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469654 97469655 97469655 exon -10 0.8846154 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATGCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 463 395 0.9977565 1 0.9988782 NA NA 0.9268401 0.9944387 NA NA 0.07091634 0.005561292 NA 0.9606394 NA 0.03823882 NA FALSE NA 0.999 0.479 NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:97469655 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 missense_variant 3.346351 0.97419 0.81613 0.722319 0.9952956 0 0.831822 FALSE 5.68833e-05 ENSE00001792966_010 ENSE00001792966 010 10 99229362 99229531 - 41 78 51 T C 99229414 2189 118 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTGTCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469656 97469657 97469657 exon -12 0.8589744 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTGTCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 451 542 1 0.9235269 0.9617635 NA NA 0.9268401 0.9944387 NA NA 0.07315987 -0.07091178 NA 0.9606394 NA 0.001124045 NA FALSE NA 1 1.475 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/30 rs201359735 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATA T,C 8.236e-06 10:97469657 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 missense_variant 0.850681 0.97266 0.91034 0.722319 0.8739605 0 0.831822 FALSE 1.21893e-05 ENSE00001792966_011 ENSE00001792966 011 10 99229362 99229531 - 41 78 51 G C 99229433 2190 99 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTGCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469675 97469676 97469676 exon -31 0.6153846 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTGCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 158 296 1 0.995233 0.9976165 NA NA 0.9268401 0.9944387 NA NA 0.07315987 0.0007942928 NA 0.9606394 NA 0.03697708 NA FALSE NA 0.001 -2.16 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/30 1 NA GGA G,C 1.647e-05 10:97469676 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 synonymous_variant 1.110095 0.63845 0.17432 0.722319 0.5995425 0 0.831822 FALSE 8.12499e-06 ENSE00001792966_012 ENSE00001792966 012 10 99229362 99229531 - 41 78 51 G C 99229439 2191 93 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGAGTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469681 97469682 97469682 exon -37 0.5384615 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGAGTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 34 350 0.981723 0.9968962 0.9893096 NA NA 0.9268401 0.9944387 NA NA 0.05488283 0.002457448 NA 0.9606394 NA 0.02867014 NA FALSE NA 0.996 0.226 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/30 1 NA AGT G,C 8.236e-06 10:97469682 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 missense_variant 1.155291 0.97477 0.85705 0.722319 0.4422908 0 0.831822 FALSE 4.06233e-06 ENSE00001792966_014 ENSE00001792966 014 10 99229362 99229531 - 41 78 51 C T 99229463 2193 69 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTATATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469705 97469706 97469706 exon 18 0.2307692 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTATATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 210 609 1 0.996878 0.998439 NA NA 0.9268401 0.9944387 NA NA 0.07315987 0.00243926 NA 0.9606394 NA 0.03779957 NA FALSE NA 0.158 -0.644 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/30 1 NA ACA C,T 8.236e-06 10:97469706 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 synonymous_variant 1.944507 0.95518 0.28465 0.722319 0.6743601 0 0.831822 FALSE 4.06299e-06 ENSE00001792966_015 ENSE00001792966 015 10 99229362 99229531 - 41 78 51 C T 99229465 2194 67 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTATGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469707 97469708 97469708 exon 16 0.2051282 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTATGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 116 828 1 0.9961605 0.9980803 NA NA 0.9268401 0.9944387 NA NA 0.07315987 0.0017218 NA 0.9606394 NA 0.03744084 NA FALSE NA 1 1.343 rs189804656 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 10/30 rs189804656 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACA C,T 8.236e-06 10:97469708 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 missense_variant 2.994947 0.96806 0.76556 0.722319 0.9933338 0 0.831822 FALSE NA ENSE00001792966_016 ENSE00001792966 016 10 99229362 99229531 - 41 78 51 G A 99229489 2195 43 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTTCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469731 97469732 97469732 upstr_intron -9 -0.1568627 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTTCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 54 2365 1 0.9999839 0.999992 NA NA 0.9268401 0.9944387 NA NA 0.07315987 0.005545199 NA 0.9606394 NA 0.03935253 NA FALSE NA 0.587 0.217 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:97469732 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 intron_variant 1.860953 0.61056 0.02951 0.099367 0.7257723 0.159204 0.831822 FALSE 0.219583 ENSE00001792966_017 ENSE00001792966 017 10 99229362 99229531 - 41 78 51 G C 99229489 2196 43 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTGCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469731 97469732 97469732 upstr_intron -9 -0.1568627 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTGCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 694 208 0.9681209 0.9990547 0.9835878 NA NA 0.9268401 0.9944387 NA NA 0.04128078 0.004615947 NA 0.9606394 NA 0.02294837 NA FALSE NA 0.587 0.217 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003559889 intron_variant 1.442133 0.69245 0.28872 0.099367 0.7389554 0.159204 0.831822 FALSE NA ENSE00001792966_018 ENSE00001792966 018 10 99229362 99229531 - 41 78 51 C A 99229494 2197 38 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCTGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469736 97469737 97469737 upstr_intron -14 -0.254902 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCTGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 164 1698 1 0.9951816 0.9975908 NA NA 0.9268401 0.9944387 NA NA 0.07315987 0.0007429248 NA 0.9606394 NA 0.0369514 NA FALSE NA 0 -0.658 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:97469737 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 intron_variant -0.080207 0.18988 0.04245 0.099367 0.4570078 0.0540496 0.831822 FALSE 4.06994e-06 ENSE00001792966_019 ENSE00001792966 019 10 99229362 99229531 - 41 78 51 C T 99229494 2198 38 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCAGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469736 97469737 97469737 upstr_intron -14 -0.254902 CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCAGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 398 50 0.995347 1 0.9976735 NA NA 0.9268401 0.9944387 NA NA 0.06850684 0.005561292 NA 0.9606394 NA 0.03703407 NA FALSE NA 0 -0.658 NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003559889 intron_variant -0.181355 0.18931 0.04122 0.099367 0.3825857 0.0540496 0.831822 FALSE 4.06994e-06 ENSE00001792966_021 ENSE00001792966 021 10 99229362 99229531 - 41 78 51 C T 99229499 2200 33 CCTAGGGTGTCTGAGTGTGTACATAACTGATAACAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA 97469604 97469774 97469741 97469742 97469742 upstr_intron -19 -0.3529412 CCTAGGGTGTCTGAGTGTGTACATAACTGATAACAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA CCTAGGGTGTCTGAGTGTGTACATAACTGATAGCAGCGGTTTCCTTGGCAGAATGCTTGCTGTGCTGTGTATGGACAGAAGGAACTGAAGGACTTCCTCCCCAGCCTTTGGGCTTCTATCCGCAGAGAGGTGAGTGTCACTCAGATAAACTCACTACTGTTAACTTTCAA mutant NA NA NA NA NA 73 86 0.9978941 1 0.9989471 NA NA 0.9268401 0.9944387 NA NA 0.07105398 0.005561292 NA 0.9606394 NA 0.03830764 NA FALSE NA 0 -1.705 rs29001305 intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 9/29 1 NA GCT C,T 4.118e-05 10:97469742 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003559889 intron_variant -0.223092 0.19228 0.04752 0.099367 0.2337297 0.0532412 0.831822 FALSE 2.85114e-05 ENSE00001794186_000 ENSE00001794186 000 7 23357216 23357385 - 42 75 53 NA NA NA NA NA TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 NA NA NA NA NA NA TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT natural 35 22 1 1 1 4624 4241 0.8705362 0.986295 0.9284156 1 1 0.8705362 0.986295 0 0 0 0 1 0.9284156 0 0 0 FALSE FALSE NA NA NA NA NA IGF2BP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IGF2BP3 NA NA NA ENSG00000136231 ENSE00003563138 NA NA NA NA NA NA NA 0.9997262 TRUE NA ENSE00001794186_001 ENSE00001794186 001 7 23357216 23357385 - 42 75 53 C T 23357232 683 154 ATTTGTTACCTGTGGATATAGCACATACTCTAGAGCACATACCTTGAACTGAGCCTCTGGTGGTCCAGTGATAATCACCATCCTCACTTTAGCATCTGGTGCTTCCGCTGGAGCAATCTGTAACAGACCCAACAACAAGTTATGATACTTTCAGGTATCACTGATAGGCA 23317596 23317766 23317612 23317613 23317613 downstr_intron 26 1.634146 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATATCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 960 249 1 1 1 1 1 0.8705362 0.986295 NA NA 0.1294638 0.01370497 1 0.9284156 NA 0.07158437 NA FALSE NA 0.002 0.31 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA ACA C,T 1.647e-05 7:23317613 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 intron_variant 0.261708 0.18708 0.08424 0.099367 0.573524 0.0969417 0.9997262 TRUE 1.22069e-05 ENSE00001794186_002 ENSE00001794186 002 7 23357216 23357385 - 42 75 53 T C 23357234 684 152 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTGTGTCCACAGGTAACAAAT 23317596 23317766 23317614 23317615 23317615 downstr_intron 24 1.585366 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTGTGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 79 757 0.9919145 1 0.9959572 1 1 0.8705362 0.986295 NA NA 0.1213782 0.01370497 1 0.9284156 NA 0.0675416 NA FALSE NA 0 -0.392 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA ATA T,C 8.236e-06 7:23317615 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 intron_variant -0.048965 0.09185 0.00323 0.099367 0.6288044 0.0969417 0.9997262 TRUE 4.06795e-06 ENSE00001794186_003 ENSE00001794186 003 7 23357216 23357385 - 42 75 53 A C 23357235 685 151 ATTTGTTACCTGTGGACATCGCACATACTCTAGAGCACATACCTTGAACTGAGCCTCTGGTGGTCCAGTGATAATCACCATCCTCACTTTAGCATCTGGTGCTTCCGCTGGAGCAATCTGTAACAGACCCAACAACAAGTTATGATACTTTCAGGTATCACTGATAGGCA 23317596 23317766 23317615 23317616 23317616 downstr_intron 23 1.560976 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCGATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 257 258 1 1 1 1 1 0.8705362 0.986295 NA NA 0.1294638 0.01370497 1 0.9284156 NA 0.07158437 NA FALSE NA 0 0.061 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA TAG A,C 1.647e-05 7:23317616 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 intron_variant -0.150668 0.21456 0.04276 0.099367 0.759035 0.0969417 0.9997262 TRUE 8.13445e-06 ENSE00001794186_004 ENSE00001794186 004 7 23357216 23357385 - 42 75 53 C T 23357239 686 147 ATTTGTTACCTGTGGACATAGCATATACTCTAGAGCACATACCTTGAACTGAGCCTCTGGTGGTCCAGTGATAATCACCATCCTCACTTTAGCATCTGGTGCTTCCGCTGGAGCAATCTGTAACAGACCCAACAACAAGTTATGATACTTTCAGGTATCACTGATAGGCA 23317596 23317766 23317619 23317620 23317620 downstr_intron 19 1.463415 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATATGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 1590 414 0.9989381 1 0.9994691 1 1 0.8705362 0.986295 NA NA 0.1284019 0.01370497 1 0.9284156 NA 0.07105345 NA FALSE NA 0.003 -0.259 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 rs372409773 1 NA T:0 T:0.0001 ACA C,T 1.647e-05 7:23317620 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 intron_variant 0.213759 0.19206 0.01503 0.156188 0.5077978 0.0969417 0.9997262 TRUE 1.21976e-05 ENSE00001794186_005 ENSE00001794186 005 7 23357216 23357385 - 42 75 53 T C 23357241 687 145 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTGTGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317621 23317622 23317622 downstr_intron 17 1.414634 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTGTGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 23 1877 0.9932691 0.9977544 0.9955117 1 1 0.8705362 0.986295 NA NA 0.1227328 0.01145939 1 0.9284156 NA 0.06709612 NA FALSE NA 0.06 1.093 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA ATA T,C 8.236e-06 7:23317622 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 intron_variant 0.265753 0.19005 0.2805 0.099367 0.7339814 0.0969417 0.9997262 TRUE 8.13035e-06 ENSE00001794186_007 ENSE00001794186 007 7 23357216 23357385 - 42 75 53 A C 23357247 689 139 ATTTGTTACCTGTGGACATAGCACATACTCTCGAGCACATACCTTGAACTGAGCCTCTGGTGGTCCAGTGATAATCACCATCCTCACTTTAGCATCTGGTGCTTCCGCTGGAGCAATCTGTAACAGACCCAACAACAAGTTATGATACTTTCAGGTATCACTGATAGGCA 23317596 23317766 23317627 23317628 23317628 downstr_intron 11 1.268293 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCGAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 312 1159 1 0.9979629 0.9989814 1 1 0.8705362 0.986295 NA NA 0.1294638 0.01166783 1 0.9284156 NA 0.0705658 NA FALSE NA 0.993 1.804 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 rs200186275 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TAG A,C 8.236e-06 7:23317628 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 intron_variant 1.104198 0.28043 0.288 0.156188 0.8096254 0.308147 0.9997262 TRUE NA ENSE00001794186_008 ENSE00001794186 008 7 23357216 23357385 - 42 75 53 T C 23357255 690 131 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTGTGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317635 23317636 23317636 downstr_intron 3 1.073171 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTGTGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 440 622 0.9953642 0.9963064 0.9958353 1 1 0.8705362 0.986295 NA NA 0.124828 0.01001141 1 0.9284156 NA 0.06741971 NA FALSE NA 1 2.094 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA ATA T,C 8.236e-06 7:23317636 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 splice_region_variant 1.652681 0.9043 0.76054 0.156188 0.9222685 0.629868 0.9997262 TRUE 1.21866e-05 ENSE00001794186_009 ENSE00001794186 009 7 23357216 23357385 - 42 75 53 C G 23357272 691 114 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCACAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317652 23317653 23317653 exon -15 0.8133333 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCACAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 871 315 0.9973444 0.9931974 0.9952709 1 1 0.8705362 0.986295 NA NA 0.1268081 0.006902423 1 0.9284156 NA 0.06685527 NA FALSE NA 1 7.54 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA TCT C,G 8.236e-06 7:23317653 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 missense_variant 6.558438 0.99533 0.99456 0.67177 0.9979503 0 0.9997262 TRUE 4.06118e-06 ENSE00001794186_010 ENSE00001794186 010 7 23357216 23357385 - 42 75 53 G C 23357283 692 103 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCAGTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317663 23317664 23317664 exon -26 0.6666667 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCAGTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 78 134 1 1 1 1 1 0.8705362 0.986295 NA NA 0.1294638 0.01370497 1 0.9284156 NA 0.07158437 NA FALSE NA 1 4.34 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA AGT G,C 8.236e-06 7:23317664 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 missense_variant 2.331365 0.98272 0.98008 0.67177 0.9844513 0 0.9997262 TRUE NA ENSE00001794186_011 ENSE00001794186 011 7 23357216 23357385 - 42 75 53 G A 23357314 693 72 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCATCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317694 23317695 23317695 exon 19 0.2533333 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCATCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 120 109 0.9987205 0.9956971 0.9972088 1 1 0.8705362 0.986295 NA NA 0.1281843 0.009402098 1 0.9284156 NA 0.0687932 NA FALSE NA 1 3.459 rs140311149 downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 rs140311149 1 NA A:0.0002 A:0 GGT G,A 3.295e-05 7:23317695 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 missense_variant 2.879852 0.98458 0.96279 0.719381 0.9989541 0 0.9997262 TRUE 2.43649e-05 ENSE00001794186_012 ENSE00001794186 012 7 23357216 23357385 - 42 75 53 C T 23357321 694 65 ATTTGTTACCTGTGGACATAGCACATACTCTAGAGCACATACCTTGAACTGAGCCTCTGGTGGTCCAGTGATAATCACCATCCTCACTTTAGCATCTGGTGCTTCTGCTGGAGCAATCTGTAACAGACCCAACAACAAGTTATGATACTTTCAGGTATCACTGATAGGCA 23317596 23317766 23317701 23317702 23317702 exon 12 0.16 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCAGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 1068 2117 0.9972316 0.9989662 0.9980989 1 1 0.8705362 0.986295 NA NA 0.1266954 0.01267122 1 0.9284156 NA 0.06968329 NA FALSE NA 0.272 -0.616 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:23317702 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 synonymous_variant 2.261416 0.87377 0.16597 0.719381 0.5254752 0 0.9997262 TRUE 0.332841 ENSE00001794186_013 ENSE00001794186 013 7 23357216 23357385 - 42 75 53 C G 23357321 695 65 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCCGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317701 23317702 23317702 exon 12 0.16 TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCCGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 75 790 0.9171475 1 0.9585737 1 1 0.8705362 0.986295 NA NA 0.04661123 0.01370497 1 0.9284156 NA 0.0301581 NA FALSE NA 0.272 -0.616 NA NA NA IGF2BP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IGF2BP3 NA NA NA ENSG00000136231 ENSE00003563138 synonymous_variant 1.803504 0.87524 0.19655 0.719381 0.5118905 0 0.9997262 TRUE 0.0046467 ENSE00001794186_014 ENSE00001794186 014 7 23357216 23357385 - 42 75 53 C G 23357351 696 35 TGCCTATCAGTGATACCTGAAAGTATCATAACTTCTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317731 23317732 23317732 upstr_intron -19 -0.3396226 TGCCTATCAGTGATACCTGAAAGTATCATAACTTCTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 821 424 0.989475 0.9999102 0.9946926 1 1 0.8705362 0.986295 NA NA 0.1189388 0.01361517 1 0.9284156 NA 0.06627697 NA FALSE NA 0 -0.848 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA ACA C,G 8.236e-06 7:23317732 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 non_coding_transcript_exon_variant 0.009044 0.27424 0.10718 0.160075 0.6156128 0.218817 0.9997262 TRUE 8.12453e-06 ENSE00001794186_015 ENSE00001794186 015 7 23357216 23357385 - 42 75 53 T C 23357358 697 28 TGCCTATCAGTGATACCTGAAAGTATCGTAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317738 23317739 23317739 upstr_intron -26 -0.4716981 TGCCTATCAGTGATACCTGAAAGTATCGTAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 90 529 0.9982929 1 0.9991465 1 1 0.8705362 0.986295 NA NA 0.1277567 0.01370497 1 0.9284156 NA 0.07073084 NA FALSE NA 0 -0.674 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA ATG T,C 1.647e-05 7:23317739 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 non_coding_transcript_exon_variant -0.17886 0.17191 0.03565 0.160075 0.5221339 0.216212 0.9997262 TRUE 2.43813e-05 ENSE00001794186_018 ENSE00001794186 018 7 23357216 23357385 - 42 75 53 C A 23357367 700 19 TGCCTATCAGTGATACCTTAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317747 23317748 23317748 upstr_intron -35 -0.6415094 TGCCTATCAGTGATACCTTAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 35 1771 1 1 1 1 1 0.8705362 0.986295 NA NA 0.1294638 0.01370497 1 0.9284156 NA 0.07158437 NA FALSE NA 0 -0.192 . downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 1 NA TCA C,A 8.236e-06 7:23317748 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 non_coding_transcript_exon_variant 0.060557 0.19669 0.06114 0.156188 0.6946942 0.156438 0.9997262 TRUE 4.06656e-06 ENSE00001794186_019 ENSE00001794186 019 7 23357216 23357385 - 42 75 53 G A 23357369 701 17 TGCCTATCAGTGATACTTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT 23317596 23317766 23317749 23317750 23317750 upstr_intron -37 -0.6792453 TGCCTATCAGTGATACTTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT TGCCTATCAGTGATACCTGAAAGTATCATAACTTGTTGTTGGGTCTGTTACAGATTGCTCCAGCGGAAGCACCAGATGCTAAAGTGAGGATGGTGATTATCACTGGACCACCAGAGGCTCAGTTCAAGGTATGTGCTCTAGAGTATGTGCTATGTCCACAGGTAACAAAT mutant NA NA NA NA NA 617 558 1 0.9985548 0.9992774 1 1 0.8705362 0.986295 NA NA 0.1294638 0.01225974 1 0.9284156 NA 0.07086176 NA FALSE NA 0.002 0.436 rs73686877 downstream_gene_variant MODIFIER IGF2BP3 HGNC 28868 ENST00000497563 rs73686877 1 A:0.0184 A:0.0666 A:0.0058 NA A:0 A:0 A:0 A:0.0581 A:0 AGG G,A 0.005659 7:23317750 IGF2BP3 HGNC Symbol protein_coding 160258 ENSG00000136231 ENSE00003563138 non_coding_transcript_exon_variant 0.448432 0.33197 0.03697 0.156188 0.6304353 0.662141 0.9997262 TRUE 0.00463245 ENSE00001794191_000 ENSE00001794191 000 9 97346826 97346995 - 33 93 44 NA NA NA NA NA TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 NA NA NA NA NA NA TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT natural 33 156 0.9970559 0.8832282 0.9401421 2273 4135 0.9910265 0.9566955 0.973861 0.9970559 0.8832282 0.9910265 0.9566955 0 0 0 0 0.9401421 0.973861 0 0 0 FALSE FALSE NA NA NA NA NA FBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBP2 NA NA NA ENSG00000130957 ENSE00001794191 NA NA NA NA NA NA NA 0.001393124 FALSE NA ENSE00001794191_001 ENSE00001794191 001 9 97346826 97346995 - 33 93 44 C T 97346856 946 140 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTAAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584573 94584574 94584574 downstr_intron 3 1.09375 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTAAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 447 45 1 0.9767399 0.9883699 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 0.02004434 0.9401421 0.973861 NA 0.01450893 NA FALSE NA 0.988 0.214 . splice_region_variant&intron_variant LOW FBP2 HGNC 3607 ENST00000375337 3/6 rs375191917 1 NA T:0.0002 T:0 TCA C 8.236e-06 9:94584574 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 splice_region_variant 1.776032 0.97082 0.60913 0.06567 0.7795448 0.447986 0.001393124 FALSE 4.06237e-06 ENSE00001794191_003 ENSE00001794191 003 9 97346826 97346995 - 33 93 44 C T 97346859 948 137 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAAGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584576 94584577 94584577 exon -1 1 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAAGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 1657 1429 0.9987669 0.998464 0.9986154 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.007740387 0.04176848 0.9401421 0.973861 NA 0.02475443 NA FALSE NA 1 2.057 . splice_region_variant&synonymous_variant LOW FBP2 HGNC 3607 ENST00000375337 3/7 1 NA CCT C 1.647e-05 9:94584577 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 splice_region_variant 2.550163 0.99031 0.97032 0.554377 0.9054314 0 0.001393124 FALSE 4.06164e-06 ENSE00001794191_006 ENSE00001794191 006 9 97346826 97346995 - 33 93 44 T C 97346888 951 108 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCGTCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584605 94584606 94584606 exon -30 0.688172 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCGTCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 3165 667 0.9807197 0.9948156 0.9877677 0.9970559 0.8832282 0.9910265 0.9566955 NA NA -0.01030681 0.03812011 0.9401421 0.973861 NA 0.01390665 NA FALSE NA 1 7.782 rs144384132 missense_variant MODERATE FBP2 HGNC 3607 ENST00000375337 3/7 rs144384132 1 tolerated(0.3) probably_damaging(0.983) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0016 C:0 ATG T 8.236e-05 9:94584606 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 missense_variant 3.467091 0.99251 0.99574 0.57788 0.9905339 0 0.001393124 FALSE 8.52757e-05 ENSE00001794191_007 ENSE00001794191 007 9 97346826 97346995 - 33 93 44 G A 97346890 952 106 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTTCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584607 94584608 94584608 exon -32 0.6666667 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTTCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 510 490 1 0.9384459 0.9692229 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 -0.01824966 0.9401421 0.973861 NA -0.004638073 NA FALSE NA 1 9.546 . missense_variant MODERATE FBP2 HGNC 3607 ENST00000375337 3/7 1 deleterious(0) possibly_damaging(0.755) NA GGA G 1.647e-05 9:94584608 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 missense_variant 6.44313 0.99463 0.99737 0.57788 0.9968782 0 0.001393124 FALSE 1.21824e-05 ENSE00001794191_008 ENSE00001794191 008 9 97346826 97346995 - 33 93 44 G A 97346892 953 104 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCTTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584609 94584610 94584610 exon -34 0.6451613 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCTTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 133 822 1 1 1 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 0.04330446 0.9401421 0.973861 NA 0.02613899 NA FALSE NA 0.765 -0.216 . synonymous_variant LOW FBP2 HGNC 3607 ENST00000375337 3/7 rs368262791 1 NA A:0 A:0.0001 AGG G 3.295e-05 9:94584610 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 synonymous_variant 1.233715 0.86761 0.54592 0.57788 0.6818125 0 0.001393124 FALSE 2.43645e-05 ENSE00001794191_009 ENSE00001794191 009 9 97346826 97346995 - 33 93 44 G T 97346893 954 103 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGACTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584610 94584611 94584611 exon -35 0.6344086 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGACTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 607 843 0.9986361 1 0.999318 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.007609608 0.04330446 0.9401421 0.973861 NA 0.02545703 NA FALSE NA 1 9.546 . missense_variant MODERATE FBP2 HGNC 3607 ENST00000375337 3/7 1 deleterious(0) possibly_damaging(0.848) NA GGC G 8.236e-06 9:94584611 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 missense_variant 6.327973 0.99123 0.99698 0.57788 0.9977746 0 0.001393124 FALSE 8.1215e-06 ENSE00001794191_010 ENSE00001794191 010 9 97346826 97346995 - 33 93 44 G A 97346898 955 98 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGTCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584615 94584616 94584616 exon -40 0.5806452 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGTCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 548 806 1 0.9978895 0.9989448 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 0.04119401 0.9401421 0.973861 NA 0.02508376 NA FALSE NA 1 0.705 . synonymous_variant LOW FBP2 HGNC 3607 ENST00000375337 3/7 1 NA GGC G 1.647e-05 9:94584616 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 synonymous_variant 0.995191 0.96605 0.84932 0.57788 0.5695003 0 0.001393124 FALSE 2.43649e-05 ENSE00001794191_011 ENSE00001794191 011 9 97346826 97346995 - 33 93 44 A G 97346905 956 91 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATACTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584622 94584623 94584623 exon -47 0.5053763 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATACTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 270 657 1 0.9977084 0.9988542 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 0.0410129 0.9401421 0.973861 NA 0.02499321 NA FALSE NA 1 7.23 . missense_variant MODERATE FBP2 HGNC 3607 ENST00000375337 3/7 1 deleterious(0.01) possibly_damaging(0.762) NA AAT A 8.236e-06 9:94584623 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 missense_variant 4.859873 0.98808 0.99328 0.57788 0.9977189 0 0.001393124 FALSE 8.12163e-06 ENSE00001794191_012 ENSE00001794191 012 9 97346826 97346995 - 33 93 44 C G 97346918 957 78 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATCGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584635 94584636 94584636 exon 34 0.3655914 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATCGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 86 154 1 0.9832035 0.9916018 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 0.02650798 0.9401421 0.973861 NA 0.01774075 NA FALSE NA 1 7.571 . missense_variant MODERATE FBP2 HGNC 3607 ENST00000375337 3/7 1 deleterious(0.01) probably_damaging(1) NA CCA C 8.236e-06 9:94584636 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 missense_variant 6.774614 0.99534 0.9942 0.57788 0.9994271 0 0.001393124 FALSE 4.06095e-06 ENSE00001794191_013 ENSE00001794191 013 9 97346826 97346995 - 33 93 44 C G 97346922 958 74 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTCGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584639 94584640 94584640 exon 30 0.3225806 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTCGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 589 266 0.997956 1 0.998978 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.006929487 0.04330446 0.9401421 0.973861 NA 0.02511697 NA FALSE NA 1 1.387 . synonymous_variant LOW FBP2 HGNC 3607 ENST00000375337 3/7 1 NA CCA C 8.236e-06 9:94584640 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 synonymous_variant 1.295178 0.98146 0.94554 0.57788 0.797419 0 0.001393124 FALSE 8.12209e-06 ENSE00001794191_014 ENSE00001794191 014 9 97346826 97346995 - 33 93 44 G A 97346926 959 70 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCTACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584643 94584644 94584644 exon 26 0.2795699 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCTACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 704 391 0.9756079 0.9995953 0.9876016 0.9970559 0.8832282 0.9910265 0.9566955 NA NA -0.01541857 0.04289976 0.9401421 0.973861 NA 0.0137406 NA FALSE NA 1 9.55 rs147854931 missense_variant MODERATE FBP2 HGNC 3607 ENST00000375337 3/7 rs147854931 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0001 TGG G 8.236e-06 9:94584644 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 missense_variant 6.797329 0.99519 0.99521 0.57788 0.9985753 0 0.001393124 FALSE 4.06114e-06 ENSE00001794191_015 ENSE00001794191 015 9 97346826 97346995 - 33 93 44 A G 97346932 960 64 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTCTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584649 94584650 94584650 exon 20 0.2150538 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTCTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 328 578 1 1 1 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 0.04330446 0.9401421 0.973861 NA 0.02613899 NA FALSE NA 1 9.04 . missense_variant MODERATE FBP2 HGNC 3607 ENST00000375337 3/7 1 deleterious(0) probably_damaging(0.938) NA AAA A 2.471e-05 9:94584650 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 missense_variant 6.861698 0.9938 0.99549 0.57788 0.9986491 0 0.001393124 FALSE 4.06114e-05 ENSE00001794191_016 ENSE00001794191 016 9 97346826 97346995 - 33 93 44 G C 97346937 961 59 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTGTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584654 94584655 94584655 exon 15 0.1612903 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTGTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 1031 621 1 1 1 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 0.04330446 0.9401421 0.973861 NA 0.02613899 NA FALSE NA 1 1.184 . synonymous_variant LOW FBP2 HGNC 3607 ENST00000375337 3/7 1 NA AGA G 8.236e-06 9:94584655 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 synonymous_variant 0.907263 0.97327 0.80421 0.446893 0.7639153 0 0.001393124 FALSE 1.62467e-05 ENSE00001794191_017 ENSE00001794191 017 9 97346826 97346995 - 33 93 44 C A 97346950 962 46 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGTGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584667 94584668 94584668 exon 2 0.02150538 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGTGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 179 6866 0.9946686 0.9991737 0.9969212 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.003642125 0.04247819 0.9401421 0.973861 NA 0.02306016 NA FALSE NA 1 7.571 . missense_variant&splice_region_variant MODERATE FBP2 HGNC 3607 ENST00000375337 3/7 1 deleterious(0) probably_damaging(0.989) NA CCC C 8.236e-06 9:94584668 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 missense_variant 7.111913 0.99529 0.99396 0.446893 0.9981517 0 0.001393124 FALSE 4.06342e-06 ENSE00001794191_018 ENSE00001794191 018 9 97346826 97346995 - 33 93 44 T C 97346957 963 39 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGGTTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584674 94584675 94584675 upstr_intron -6 -0.1136364 TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGGTTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 684 69 1 1 1 0.9970559 0.8832282 0.9910265 0.9566955 NA NA 0.008973514 0.04330446 0.9401421 0.973861 NA 0.02613899 NA FALSE NA 0.024 0.301 . splice_region_variant&intron_variant LOW FBP2 HGNC 3607 ENST00000375337 2/6 rs200549097 1 NA ATC T 1.647e-05 9:94584675 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 splice_region_variant 0.939824 0.25945 0.15121 0.06567 0.649905 0.228622 0.001393124 FALSE 1.21943e-05 ENSE00001794191_019 ENSE00001794191 019 9 97346826 97346995 - 33 93 44 C T 97346972 964 24 TGGGAAGATGTGCTGATCAGTTGATGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584689 94584690 94584690 upstr_intron -21 -0.4545455 TGGGAAGATGTGCTGATCAGTTGATGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 3049 412 0.9504626 0.9969883 0.9737254 0.9970559 0.8832282 0.9910265 0.9566955 NA NA -0.04056386 0.04029273 0.9401421 0.973861 NA -0.0001355673 NA FALSE NA 0 0.216 . intron_variant MODIFIER FBP2 HGNC 3607 ENST00000375337 2/6 1 NA ACC C 8.236e-06 9:94584690 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 intron_variant 0.030556 0.23111 0.06709 0.06567 0.689487 0.0483917 0.001393124 FALSE 4.07598e-06 ENSE00001794191_020 ENSE00001794191 020 9 97346826 97346995 - 33 93 44 G A 97346978 965 18 TGGGAAGATGTGCTGATTAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584695 94584696 94584696 upstr_intron -27 -0.5909091 TGGGAAGATGTGCTGATTAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 121 827 0.9832473 0.8989712 0.9411092 0.9970559 0.8832282 0.9910265 0.9566955 NA NA -0.007779223 -0.05772435 0.9401421 0.973861 NA -0.03275178 NA FALSE NA 0 -0.334 . intron_variant MODIFIER FBP2 HGNC 3607 ENST00000375337 2/6 1 NA TGA G 8.237e-06 9:94584696 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 intron_variant -0.073615 0.18821 0.02106 0.06567 0.5001009 0.0483917 0.001393124 FALSE NA ENSE00001794191_021 ENSE00001794191 021 9 97346826 97346995 - 33 93 44 A G 97346979 966 17 TGGGAAGATGTGCTGACCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 94584696 94584697 94584697 upstr_intron -28 -0.6136364 TGGGAAGATGTGCTGACCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT mutant NA NA NA NA NA 349 561 0.8536502 1 0.9268251 0.9970559 0.8832282 0.9910265 0.9566955 NA NA -0.1373763 0.04330446 0.9401421 0.973861 NA -0.04703591 NA FALSE NA 0 -0.772 rs2292900 intron_variant MODIFIER FBP2 HGNC 3607 ENST00000375337 2/6 rs2292900 1 G:0.0625 G:0.0998 G:0.036 NA G:0.0486 G:0.0427 G:0.0654 G:0.0987 G:0.0406 GAT G 0.045 9:94584697 FBP2 HGNC Symbol protein_coding 35073 ENSG00000130957 ENSE00001794191 intron_variant 0.126145 0.19359 0.02017 0.06567 0.362366 0.0483917 0.001393124 FALSE 0.0449491 ENSE00001794191_BRK ENSE00001794191 BRK 9 97346826 97346995 - 33 93 44 A,G; T,T NA NA NA TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTTTGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGCCGAGTAGACAGGCTGACATTTTACACCTCCTT 94584543 94584713 NA NA NA NA NA NA TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTTTGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGCCGAGTAGACAGGCTGACATTTTACACCTCCTT TGGGAAGATGTGCTGATCAGTTGGTGCTTTCCTCTCTGATTTAGGGGAAATACGTGGTCTGCTTTGACCCACTGGATGGATCTTCCAATATTGACTGCCTGGCCTCCATCGGAACCATCTTTGCCATCTATAGAAAGGTGAGTAGACAGGCTGACATTTTACACCTCCTT control 13 34 0 0 0 NA NA NA NA NA 0.9970559 0.8832282 0.9910265 0.9566955 -0.9970559 -0.8832282 NA NA 0.9401421 0.973861 -0.9401421 NA NA NA TRUE NA NA NA NA NA FBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FBP2 NA NA NA ENSG00000130957 ENSE00001794191 NA NA NA NA NA NA NA 0.001393124 FALSE NA ENSE00001794847_000 ENSE00001794847 000 2 28771673 28771842 + 54 72 44 NA NA NA NA NA CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 NA NA NA NA NA NA CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG natural 1996 1730 0.827067 0.8378371 0.832452 4748 4256 0.8820362 0.8461096 0.8640729 0.827067 0.8378371 0.8820362 0.8461096 0 0 0 0 0.832452 0.8640729 0 0 0 FALSE FALSE NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001794847 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001794847_001 ENSE00001794847 001 2 28771673 28771842 + 54 72 44 T C 28771685 647 13 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCGGGTAGCAGCCTG 28548805 28548975 28548817 28548818 28548818 upstr_intron -42 -0.7592593 CAGGCTGCTACCCGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 811 504 0.9320233 0.9043545 0.9181889 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.0499871 0.05824482 0.832452 0.8640729 NA 0.05411596 NA FALSE NA 0 -0.403 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 14/57 1 NA CTG T,C 8.236e-06 2:28548818 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant -0.03907 0.13021 0.02174 0.061011 0.4316395 0.0526402 1.993153e-56 FALSE 8.15415e-06 ENSE00001794847_002 ENSE00001794847 002 2 28771673 28771842 + 54 72 44 C T 28771697 648 25 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGAAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548829 28548830 28548830 upstr_intron -30 -0.537037 CAGGCTGCTACCTGCACAAAACTTTCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 728 522 0.9500651 0.9505799 0.9503225 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.06802888 0.1044703 0.832452 0.8640729 NA 0.08624957 NA FALSE NA 0 -0.53 rs181918982 intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 14/57 rs181918982 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCC C,T 8.236e-06 2:28548830 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.087016 0.1158 0.00306 0.061011 0.4131588 0.0526774 1.993153e-56 FALSE 4.06607e-06 ENSE00001794847_003 ENSE00001794847 003 2 28771673 28771842 + 54 72 44 C T 28771704 649 32 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAAAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548836 28548837 28548837 upstr_intron -23 -0.4074074 CAGGCTGCTACCTGCACAAAACTTCCCTGTTTTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 2104 496 0.8093078 0.8 0.8046539 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.07272838 -0.04610964 0.832452 0.8640729 NA -0.05941901 NA FALSE NA 0.289 0.433 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 14/57 1 NA TCT C,T 1.647e-05 2:28548837 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.197232 0.16971 0.04208 0.061011 0.5914571 0.0526774 1.993153e-56 FALSE 1.21906e-05 ENSE00001794847_004 ENSE00001794847 004 2 28771673 28771842 + 54 72 44 T C 28771705 650 33 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTGGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548837 28548838 28548838 upstr_intron -22 -0.3888889 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCCAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 115 87 0.03201207 0.005842035 0.01892705 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.8500241 -0.8402676 0.832452 0.8640729 NA -0.8451459 NA TRUE NA 0.379 1.619 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 14/57 1 NA CTA T,C 8.236e-06 2:28548838 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.115386 0.2606 0.27689 0.061011 0.5852234 0.0526774 1.993153e-56 FALSE 4.06263e-06 ENSE00001794847_005 ENSE00001794847 005 2 28771673 28771842 + 54 72 44 G T 28771709 651 37 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGATTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548841 28548842 28548842 upstr_intron -18 -0.3148148 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAATCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 993 668 0.9794167 0.9704747 0.9749457 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.09738048 0.124365 0.832452 0.8640729 NA 0.1108728 NA FALSE NA 0 -0.707 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 14/57 1 NA AGC G,T 8.236e-06 2:28548842 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant -0.323866 0.14655 0.02256 0.061011 0.3654621 0.0526774 1.993153e-56 FALSE 4.0627e-06 ENSE00001794847_006 ENSE00001794847 006 2 28771673 28771842 + 54 72 44 C T 28771714 652 42 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACATGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548846 28548847 28548847 upstr_intron -13 -0.2222222 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCATGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 1650 19 0.9557655 0.9651707 0.9604681 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.07372937 0.119061 0.832452 0.8640729 NA 0.0963952 NA FALSE NA 0 0.22 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 14/57 rs371546160 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0005 T:0.0002 ACG C,T 0.0002965 2:28548847 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant -0.078404 0.24476 0.08213 0.061011 0.498609 0.0919046 1.993153e-56 FALSE 0.00036969 ENSE00001794847_007 ENSE00001794847 007 2 28771673 28771842 + 54 72 44 G A 28771715 653 43 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAATGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548847 28548848 28548848 upstr_intron -12 -0.2037037 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACATTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 469 602 0.8401292 0.9387568 0.889443 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.04190699 0.09264715 0.832452 0.8640729 NA 0.02537008 NA FALSE NA 0 -1.383 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 14/57 rs371049357 1 NA CGT G,A 1.647e-05 2:28548848 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant -0.239647 0.13163 0.00522 0.061011 0.5716493 0.0956527 1.993153e-56 FALSE 3.24968e-05 ENSE00001794847_008 ENSE00001794847 008 2 28771673 28771842 + 54 72 44 G A 28771729 654 57 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCTATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548861 28548862 28548862 exon 3 0.04166667 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATAGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 535 131 0.00143285 0.00670403 0.00406844 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.8806033 -0.8394056 0.832452 0.8640729 NA -0.8600045 NA TRUE NA 0.985 1.832 . missense_variant&splice_region_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 rs540637074 1 tolerated(0.09) benign(0.022) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGG G,A 8.236e-06 2:28548862 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant 2.96148 0.97664 0.77532 0.487112 0.9868617 0 1.993153e-56 FALSE 4.06157e-06 ENSE00001794847_009 ENSE00001794847 009 2 28771673 28771842 + 54 72 44 C G 28771733 655 61 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGCCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548865 28548866 28548866 exon 7 0.09722222 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGGCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 233 78 0.8 0.8018519 0.800926 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.08203617 -0.04425772 0.832452 0.8640729 NA -0.06314695 NA FALSE NA 0.608 1.21 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 1 deleterious(0.04) possibly_damaging(0.781) NA GCC C,G 8.236e-06 2:28548866 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant 5.141723 0.97616 0.49356 0.487112 0.9961339 0 1.993153e-56 FALSE 4.06151e-06 ENSE00001794847_011 ENSE00001794847 011 2 28771673 28771842 + 54 72 44 A G 28771735 657 63 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCCGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548867 28548868 28548868 exon 9 0.125 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCGGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 201 433 0.95 0.95 0.95 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.06796383 0.1038904 0.832452 0.8640729 NA 0.08592709 NA FALSE NA 0.118 -0.19 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 15/58 1 NA CAG A,G 8.236e-06 2:28548868 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 synonymous_variant 0.587877 0.95871 0.09755 0.487112 0.6872247 0 1.993153e-56 FALSE 4.06121e-06 ENSE00001794847_012 ENSE00001794847 012 2 28771673 28771842 + 54 72 44 T G 28771750 658 78 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCCTCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548882 28548883 28548883 exon 24 0.3333333 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGAGGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 355 1754 0.9852719 0.989992 0.9876319 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.1032357 0.1438823 0.832452 0.8640729 NA 0.123559 NA FALSE NA 0.92 -0.364 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 1 tolerated(0.64) benign(0.002) NA ATG T,G 8.236e-06 2:28548883 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant -1.298232 0.65047 0.21956 0.487112 0.415118 0 1.993153e-56 FALSE 4.06118e-06 ENSE00001794847_013 ENSE00001794847 013 2 28771673 28771842 + 54 72 44 G T 28771753 659 81 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGATCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548885 28548886 28548886 exon 27 0.375 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGATCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 1550 1306 0.9543152 0.9471795 0.9507474 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.07227903 0.1010699 0.832452 0.8640729 NA 0.08667445 NA FALSE NA 0.846 0.522 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 1 tolerated(0.1) benign(0.065) NA AGC G,T 8.236e-06 2:28548886 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant 0.529243 0.86645 0.55966 0.487112 0.9870069 0 1.993153e-56 FALSE 8.12222e-06 ENSE00001794847_016 ENSE00001794847 016 2 28771673 28771842 + 54 72 44 G A 28771772 662 100 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCTGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548904 28548905 28548905 exon -27 0.6388889 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACAGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 1439 172 0.8765233 0.8508538 0.8636885 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.005512882 0.004744126 0.832452 0.8640729 NA -0.0003843781 NA FALSE NA 0.021 0.143 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 rs549292340 1 tolerated(0.84) benign(0) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG A,A 4.942e-05 2:28548905 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant -0.713256 0.12344 0.00088 0.487112 0.379281 0 1.993153e-56 FALSE 3.24881e-05 ENSE00001794847_018 ENSE00001794847 018 2 28771673 28771842 + 54 72 44 G A 28771774 664 102 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTTCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548906 28548907 28548907 exon -25 0.6666667 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGAAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 1301 360 0.9643545 0.9786145 0.9714845 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.08231831 0.1325049 0.832452 0.8640729 NA 0.1074116 NA FALSE NA 0 -0.395 . synonymous_variant LOW PLB1 HGNC 30041 ENST00000327757 15/58 1 NA GGA G,A 8.236e-06 2:28548907 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 synonymous_variant 0.190162 0.16251 0.01494 0.487112 0.4200353 0 1.993153e-56 FALSE 2.03044e-05 ENSE00001794847_019 ENSE00001794847 019 2 28771673 28771842 + 54 72 44 C T 28771778 665 106 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGACCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548910 28548911 28548911 exon -21 0.7222222 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGTCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 581 977 0.7893474 0.8008869 0.7951171 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.09268881 -0.04522276 0.832452 0.8640729 NA -0.06895578 NA FALSE NA 0 0.705 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 1 tolerated(0.42) benign(0.024) NA GCC C,T 8.236e-06 2:28548911 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant 0.854954 0.21215 0.03433 0.487112 0.7481111 0 1.993153e-56 FALSE 4.06114e-06 ENSE00001794847_020 ENSE00001794847 020 2 28771673 28771842 + 54 72 44 A T 28771784 666 112 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTACATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548916 28548917 28548917 exon -15 0.8055556 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGTAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 51 81 0.02331534 0 0.01165767 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.8587208 -0.8461096 0.832452 0.8640729 NA -0.8524152 NA TRUE NA 0.415 1.173 . stop_gained HIGH PLB1 HGNC 30041 ENST00000327757 15/58 1 NA HC GAA A,T 8.236e-06 2:28548917 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 stop_gained 12.89709 0.94403 0.41929 0.487112 0.9963026 0 1.993153e-56 FALSE 4.06118e-06 ENSE00001794847_022 ENSE00001794847 022 2 28771673 28771842 + 54 72 44 T G 28771787 668 115 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACCCTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548919 28548920 28548920 exon -12 0.8472222 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGGGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 80 697 0.8 0.8003627 0.8001814 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.08203617 -0.04574691 0.832452 0.8640729 NA -0.06389154 NA FALSE NA 0.996 3.439 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 1 deleterious(0) probably_damaging(0.991) NA GTG T,G 8.236e-06 2:28548920 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant 5.65011 0.98224 0.90072 0.516011 0.9780782 0 1.993153e-56 FALSE 4.06171e-06 ENSE00001794847_023 ENSE00001794847 023 2 28771673 28771842 + 54 72 44 C A 28771791 669 119 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGTGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548923 28548924 28548924 exon -8 0.9027778 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCACTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 768 520 0.9973444 0.9988946 0.9981195 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.1153082 0.152785 0.832452 0.8640729 NA 0.1340466 NA FALSE NA 0.986 3.354 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 1 deleterious(0) probably_damaging(0.992) NA CCC C,A 8.236e-06 2:28548924 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant 6.825612 0.98519 0.90404 0.516011 0.9968754 0 1.993153e-56 FALSE 4.06187e-06 ENSE00001794847_024 ENSE00001794847 024 2 28771673 28771842 + 54 72 44 C G 28771794 670 122 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGACAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548926 28548927 28548927 exon -5 0.9444444 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTGTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 485 346 0.8429868 0.8 0.8214934 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.03904934 -0.04610964 0.832452 0.8640729 NA -0.04257949 NA FALSE NA 0.194 1.214 . missense_variant MODERATE PLB1 HGNC 30041 ENST00000327757 15/58 1 deleterious(0) probably_damaging(0.91) NA TCT C,G 4.942e-05 2:28548927 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 missense_variant 6.235123 0.98528 0.42628 0.516011 0.99231 0 1.993153e-56 FALSE 3.24952e-05 ENSE00001794847_025 ENSE00001794847 025 2 28771673 28771842 + 54 72 44 G A 28771799 671 127 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTATCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548931 28548932 28548932 downstr_intron 1 1.023256 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGATAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 84 1047 0.1032048 0.0003492207 0.05177703 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.7788313 -0.8457604 0.832452 0.8640729 NA -0.8122959 NA TRUE NA 1 4.237 . splice_donor_variant HIGH PLB1 HGNC 30041 ENST00000327757 15/57 1 NA HC GGT G,A 8.237e-06 2:28548932 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 splice_donor_variant 5.701616 0.98501 0.9151 0.080785 0.994551 0.988696 1.993153e-56 FALSE 4.06276e-06 ENSE00001794847_026 ENSE00001794847 026 2 28771673 28771842 + 54 72 44 T G 28771800 672 128 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTCCCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548932 28548933 28548933 downstr_intron 2 1.046512 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGGAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 2130 216 0 0.004052243 0.002026122 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.8820362 -0.8420574 0.832452 0.8640729 NA -0.8620468 NA TRUE NA 1 3.439 . splice_donor_variant HIGH PLB1 HGNC 30041 ENST00000327757 15/57 1 NA HC GTA T,G 1.647e-05 2:28548933 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 splice_donor_variant 5.324495 0.98199 0.89881 0.061011 0.9921758 0.982116 1.993153e-56 FALSE 1.6253e-05 ENSE00001794847_027 ENSE00001794847 027 2 28771673 28771842 + 54 72 44 G A 28771803 673 131 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTTCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548935 28548936 28548936 downstr_intron 5 1.116279 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGAAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 458 305 0 0.02481197 0.01240599 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.8820362 -0.8212977 0.832452 0.8640729 NA -0.8516669 NA TRUE NA 0.757 2.581 . splice_region_variant&intron_variant LOW PLB1 HGNC 30041 ENST00000327757 15/57 1 NA GGA G,A 8.237e-06 2:28548936 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 splice_region_variant 1.811405 0.64351 0.40986 0.06567 0.9106247 0.619012 1.993153e-56 FALSE 4.06312e-06 ENSE00001794847_028 ENSE00001794847 028 2 28771673 28771842 + 54 72 44 A G 28771808 674 136 CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGCCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548940 28548941 28548941 downstr_intron 10 1.232558 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGGCTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 44 62 0.9716711 0.9474881 0.9595796 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.08963492 0.1013784 0.832452 0.8640729 NA 0.09550667 NA FALSE NA 0 -0.033 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 1 NA GAC A,G 8.236e-06 2:28548941 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 2.061666 0.1425 0.04283 0.06567 0.7313789 0.226928 1.993153e-56 FALSE NA ENSE00001794847_030 ENSE00001794847 030 2 28771673 28771842 + 54 72 44 G C 28771816 676 144 CCCTCGATTCAATAAGAGTCCCTCCTGTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548948 28548949 28548949 downstr_intron 18 1.418605 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCACAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 618 69 0.9273531 0.9477427 0.9375479 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.04531689 0.1016331 0.832452 0.8640729 NA 0.073475 NA FALSE NA 0 0.278 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 1 NA AGA G,C 3.295e-05 2:28548949 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 1.221452 0.24383 0.08173 0.06567 0.7882265 0.226928 1.993153e-56 FALSE 2.03315e-05 ENSE00001794847_031 ENSE00001794847 031 2 28771673 28771842 + 54 72 44 C G 28771825 677 153 CCCTCGATTCAATAAGACTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548957 28548958 28548958 downstr_intron 27 1.627907 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGAGTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 1880 2580 0.9167253 0.9830836 0.9499044 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.0346891 0.1369739 0.832452 0.8640729 NA 0.08583152 NA FALSE NA 0.001 0.391 rs185895091 intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 rs185895091 1 G:0.0008 G:0 G:0.0029 NA G:0 G:0.002 G:0 G:0.0005 G:0.0041 ACT C,G 0.002545 2:28548958 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.387375 0.20462 0.0455 0.06567 0.7737264 0.0852319 1.993153e-56 FALSE 0.00257108 ENSE00001794847_032 ENSE00001794847 032 2 28771673 28771842 + 54 72 44 T G 28771826 678 154 CCCTCGATTCAATAAGCGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548958 28548959 28548959 downstr_intron 28 1.651163 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACGCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 87 1000 0.8183646 0.9538053 0.886085 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.06367159 0.1076957 0.832452 0.8640729 NA 0.02201206 NA FALSE NA 0 -1.552 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 1 NA CTC T,G 8.236e-06 2:28548959 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.642626 0.16067 0.021 0.06567 0.7582175 0.0852319 1.993153e-56 FALSE 4.07864e-06 ENSE00001794847_033 ENSE00001794847 033 2 28771673 28771842 + 54 72 44 C G 28771827 679 155 CCCTCGATTCAATAACAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548959 28548960 28548960 downstr_intron 29 1.674419 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTGTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 59 1092 0.9130369 0.8650115 0.8890242 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.03100069 0.01890182 0.832452 0.8640729 NA 0.02495126 NA FALSE NA 0 0.159 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 1 NA TCT C,G 8.236e-05 2:28548960 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.399697 0.22472 0.05205 0.06567 0.7596582 0.0456666 1.993153e-56 FALSE 8.56751e-05 ENSE00001794847_034 ENSE00001794847 034 2 28771673 28771842 + 54 72 44 T C 28771828 680 156 CCCTCGATTCAATAGGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548960 28548961 28548961 downstr_intron 30 1.697674 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCCTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 603 653 0.7245552 0.6723226 0.6984389 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.1574809 -0.1737871 0.832452 0.8640729 NA -0.165634 NA FALSE NA 0 -0.629 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 rs538603180 1 NA CTT T,C 8.236e-06 2:28548961 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.109218 0.1097 0.00728 0.06567 0.6801756 0.0456666 1.993153e-56 FALSE 4.0792e-06 ENSE00001794847_035 ENSE00001794847 035 2 28771673 28771842 + 54 72 44 T C 28771829 681 157 CCCTCGATTCAATGAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548961 28548962 28548962 downstr_intron 31 1.72093 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTCATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 361 40 0.8758591 0.8 0.8379295 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.006177122 -0.04610964 0.832452 0.8640729 NA -0.02614338 NA FALSE NA 0 -0.087 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 rs531907327 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTA T,C 1.647e-05 2:28548962 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.258171 0.19109 0.02654 0.06567 0.7695694 0.0456666 1.993153e-56 FALSE 1.22419e-05 ENSE00001794847_036 ENSE00001794847 036 2 28771673 28771842 + 54 72 44 T C 28771831 682 159 CCCTCGATTCAGTAAGAGTCCCTCCTCTGCCCAGTCCCTCCTACCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATCTAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 28548963 28548964 28548964 downstr_intron 33 1.767442 CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTACTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG mutant NA NA NA NA NA 207 776 0.9009433 0.9224783 0.9117108 0.827067 0.8378371 0.8820362 0.8461096 NA NA 0.01890716 0.07636865 0.832452 0.8640729 NA 0.0476379 NA FALSE NA 0 -0.283 . intron_variant MODIFIER PLB1 HGNC 30041 ENST00000327757 15/57 rs373310325 1 NA C:0.0002 C:0 ATT T,C 0.0001483 2:28548964 PLB1 HGNC Symbol protein_coding 186643 ENSG00000163803 ENSE00001794847 intron_variant 0.012038 0.10024 0.00069 0.06567 0.7018332 0.0456666 1.993153e-56 FALSE 0.000102096 ENSE00001794847_BRK ENSE00001794847 BRK 2 28771673 28771842 + 54 72 44 A,G; T,T NA NA NA CCCTCGATTCAATAAGAGTCCCTCCTCTGCCCAGTCCCTCCTGGCTGAGAGGGACACTTCATTGGCCTCCCGTGTTTTACACTCAATGGCTCATCTTTCTCTCCTGCTGGCTCCATAAAGAAAGGAACGTGGGCTTTAGAACAGGGAAGTTTTGTGCAGGTAGCAGCCTG 28548805 28548975 NA NA NA NA NA NA CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTTTATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGCCAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG CAGGCTGCTACCTGCACAAAACTTCCCTGTTCTAAAGCCCACGTTCCTTTCTAGATGGAGCCAGCAGGAGAGAAAGATGAGCCATTGAGTGTAAAACACGGGAGGCCAATGAAGTGTCCCTCTCAGGTAGGAGGGACTGGGCAGAGGAGGGACTCTTATTGAATCGAGGG control NA NA NA NA NA 248 1098 0.044497 0.1456698 0.09508341 0.827067 0.8378371 0.8820362 0.8461096 NA NA -0.8375392 -0.7004398 0.832452 0.8640729 NA -0.7689895 NA TRUE NA NA NA NA NA NA PLB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLB1 NA NA NA ENSG00000163803 ENSE00001794847 NA NA NA NA NA NA NA 1.993153e-56 FALSE NA ENSE00001798600_000 ENSE00001798600 000 X 80063988 80064157 - 50 60 60 NA NA NA NA NA CGGAGGCTTTTCCTTCATCATTTGCCTCCGCTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGATCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC 80808488 80808658 NA NA NA NA NA NA CGGAGGCTTTTCCTTCATCATTTGCCTCCGCTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGATCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC CGGAGGCTTTTCCTTCATCATTTGCCTCCGCTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGATCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC natural 294 353 0.8406215 0.8312109 0.8359162 164 88 0.8219487 0.8032842 0.8126164 0.8406215 0.8312109 0.8219487 0.8032842 0 0 0 0 0.8359162 0.8126164 0 0 0 FALSE FALSE NA NA NA NA NA BRWD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRWD3 NA NA NA ENSG00000165288 ENSE00003503733 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001798600_002 ENSE00001798600 002 X 80063988 80064157 - 50 60 60 A C 80064041 747 117 CGGAGGCTTTTCCTTCATCATTTGCCTCCGCTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGAGCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC 80808488 80808658 80808541 80808542 80808542 exon -4 0.95 CGGAGGCTTTTCCTTCATCATTTGCCTCCGCTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGAGCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC CGGAGGCTTTTCCTTCATCATTTGCCTCCGCTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGATCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC mutant NA NA NA NA NA 142 12 0.7447868 0.8 0.7723934 0.8406215 0.8312109 0.8219487 0.8032842 NA NA -0.0771619 -0.003284169 0.8359162 0.8126164 NA -0.04022303 NA FALSE NA 1 3.201 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BRWD3 HGNC 17342 ENST00000478415 4/8 1 NA GAT A,C 8.237e-06 X:80808542 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003503733 missense_variant 0.139698 0.95333 0.81187 0 0.867905 0 1 TRUE 5.59613e-06 ENSE00001798600_006 ENSE00001798600 006 X 80063988 80064157 - 50 60 60 G A 80064127 751 31 CGGAGGCTTTTCCTTCATCATTTGCCTCCGTTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGATCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC 80808488 80808658 80808627 80808628 80808628 upstr_intron -30 -0.4833333 CGGAGGCTTTTCCTTCATCATTTGCCTCCGTTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGATCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC CGGAGGCTTTTCCTTCATCATTTGCCTCCGCTTCCCCCTTTCTTTTCGTCCGGCCCCCAGCTGATTCCGCGCCGCTTAGATTGGGAGGGGAAAGAGCACCGAAGAAGCTTCGAGGATCTGGTGAGTAAAGTTTTCATTTCAACTTAACCTAACTCTTTCACCACTCCCTC mutant NA NA NA NA NA 200 47 0.8926309 0.946687 0.919659 0.8406215 0.8312109 0.8219487 0.8032842 NA NA 0.07068222 0.1434029 0.8359162 0.8126164 NA 0.1070425 NA FALSE NA 0.006 0.691 . intron_variant&non_coding_transcript_variant MODIFIER BRWD3 HGNC 17342 ENST00000478415 3/7 1 NA AGC G,A 8.237e-06 X:80808628 BRWD3 HGNC Symbol protein_coding 138834 ENSG00000165288 ENSE00003503733 intron_variant -0.445107 0.34002 0.11261 0 0.8102218 0.0951836 1 TRUE 1.68593e-05 ENSE00001798716_000 ENSE00001798716 000 14 65198766 65198935 + 47 87 36 NA NA NA NA NA TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 NA NA NA NA NA NA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA natural 63 24 0.9962006 0.998088 0.9971443 2008 1664 0.9966472 0.993039 0.9948431 0.9962006 0.998088 0.9966472 0.993039 0 0 0 0 0.9971443 0.9948431 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHG3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG3 NA NA NA ENSG00000126822 ENSE00003479499 NA NA NA NA NA NA NA 1.163772e-08 FALSE NA ENSE00001798716_002 ENSE00001798716 002 14 65198766 65198935 + 47 87 36 T C 65198795 656 30 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGGAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732076 64732077 64732077 upstr_intron -18 -0.3617021 GGCCTGTAATGATAACCACTGGGTCCCTTCCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 35 445 1 1 1 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 0.006961049 0.9971443 0.9948431 NA 0.005156905 NA FALSE NA 0 -0.086 . intron_variant MODIFIER PLEKHG3 HGNC 20364 ENST00000247226 7/14 1 NA TTC T,C 8.237e-06 14:64732077 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 intron_variant 1.73735 0.18206 0.05954 0.088506 0.8688859 0.262505 1.163772e-08 FALSE 8.13359e-06 ENSE00001798716_007 ENSE00001798716 007 14 65198766 65198935 + 47 87 36 C A 65198834 661 69 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCTTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732115 64732116 64732116 exon 22 0.2528736 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAAAGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant 15 10 1 1 1 NA NA NA NA NA 0.9962006 0.998088 0.9966472 0.993039 0.003799354 0.001912008 NA NA 0.9971443 0.9948431 0.002855681 NA NA NA FALSE 1 3.016 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64732116 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 synonymous_variant 3.269871 0.97746 0.90442 0.67177 0.7242021 0 1.163772e-08 FALSE 1.6247e-05 ENSE00001798716_008 ENSE00001798716 008 14 65198766 65198935 + 47 87 36 C T 65198834 662 69 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCATTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732115 64732116 64732116 exon 22 0.2528736 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAATGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 457 240 0.9980019 1 0.9990009 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.001354622 0.006961049 0.9971443 0.9948431 NA 0.004157835 NA FALSE NA 1 3.016 NA NA NA PLEKHG3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG3 NA NA NA ENSG00000126822 ENSE00003479499 missense_variant 7.706805 0.97862 0.97261 0.67177 0.9989952 0 1.163772e-08 FALSE 2.03087e-05 ENSE00001798716_009 ENSE00001798716 009 14 65198766 65198935 + 47 87 36 G A 65198835 663 70 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCTGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732116 64732117 64732117 exon 23 0.2643678 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACAGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 107 802 1 1 1 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 0.006961049 0.9971443 0.9948431 NA 0.005156905 NA FALSE NA 1 2.975 rs138713446 missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 8/15 rs138713446&COSM4051833 1 deleterious(0) possibly_damaging(0.847) NA A:0.0005 A:0 CGG G,A 3.295e-05 14:64732117 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 missense_variant 7.062072 0.97701 0.91947 0.67177 0.9994522 0 1.163772e-08 FALSE 2.437e-05 ENSE00001798716_010 ENSE00001798716 010 14 65198766 65198935 + 47 87 36 A T 65198838 664 73 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGATCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732119 64732120 64732120 exon 26 0.2988506 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGATCTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 451 341 0.9835532 0.9869916 0.9852724 0.9962006 0.998088 0.9966472 0.993039 NA NA -0.01309406 -0.006047344 0.9971443 0.9948431 NA -0.009570704 NA FALSE NA 0 -0.094 . missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 8/15 1 tolerated(0.18) benign(0.007) NA AAC A,T 2.471e-05 14:64732120 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 missense_variant 0.796728 0.17078 0.01132 0.732398 0.8928252 0 1.163772e-08 FALSE 3.24934e-05 ENSE00001798716_011 ENSE00001798716 011 14 65198766 65198935 + 47 87 36 C T 65198849 665 84 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTAGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732130 64732131 64732131 exon 37 0.4252874 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACTACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 101 828 1 0.9798419 0.989921 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 -0.01319702 0.9971443 0.9948431 NA -0.004922131 NA FALSE NA 1 7.597 rs142732386 missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 8/15 rs142732386&COSM1515978 1 deleterious(0) benign(0.237) NA T:0 T:0.0009 CCA C,T 0.0003459 14:64732131 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 missense_variant 4.319332 0.98888 0.99447 0.732398 0.9962676 0 1.163772e-08 FALSE 0.000373683 ENSE00001798716_013 ENSE00001798716 013 14 65198766 65198935 + 47 87 36 A G 65198856 667 91 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCCTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732137 64732138 64732138 exon -44 0.5057471 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAGGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 204 183 1 1 1 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 0.006961049 0.9971443 0.9948431 NA 0.005156905 NA FALSE NA 1 9.04 . missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 8/15 1 deleterious(0.04) benign(0.307) NA AAG A,G 2.471e-05 14:64732138 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 missense_variant 4.498957 0.99174 0.99443 0.732398 0.9979012 0 1.163772e-08 FALSE 1.62479e-05 ENSE00001798716_015 ENSE00001798716 015 14 65198766 65198935 + 47 87 36 A G 65198864 669 99 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGACGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732145 64732146 64732146 exon -36 0.5977011 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCGTCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 471 264 1 0.9945697 0.9972849 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 0.001530782 0.9971443 0.9948431 NA 0.002441771 NA FALSE NA 1 9.04 . missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 8/15 1 deleterious(0) benign(0.122) NA CAT A,G 8.236e-06 14:64732146 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 missense_variant 3.866813 0.99174 0.99443 0.732398 0.9978713 0 1.163772e-08 FALSE 4.06237e-06 ENSE00001798716_016 ENSE00001798716 016 14 65198766 65198935 + 47 87 36 C G 65198879 670 114 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATCGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732160 64732161 64732161 exon -21 0.7701149 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACGATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 383 74 1 0.9890046 0.9945023 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 -0.004034382 0.9971443 0.9948431 NA -0.0003408109 NA FALSE NA 1 3.799 . missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 8/15 1 deleterious(0.03) benign(0.096) NA CCA C,G 8.236e-06 14:64732161 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 missense_variant 3.078632 0.98502 0.97521 0.732398 0.9882535 0 1.163772e-08 FALSE 8.12632e-06 ENSE00001798716_017 ENSE00001798716 017 14 65198766 65198935 + 47 87 36 A G 65198885 671 120 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGCGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732166 64732167 64732167 exon -15 0.8390805 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCGCCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 285 29 1 1 1 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 0.006961049 0.9971443 0.9948431 NA 0.005156905 NA FALSE NA 1 4.441 . missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 8/15 1 tolerated(0.31) benign(0.016) NA CAC A,G 8.236e-06 14:64732167 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 missense_variant 2.138236 0.97625 0.94977 0.67177 0.9858913 0 1.163772e-08 FALSE NA ENSE00001798716_018 ENSE00001798716 018 14 65198766 65198935 + 47 87 36 C T 65198891 672 126 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACCTTCTGGGAAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732172 64732173 64732173 exon -9 0.908046 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTTCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 127 320 0.993911 0.9995055 0.9967082 0.9962006 0.998088 0.9966472 0.993039 NA NA -0.002736263 0.006466502 0.9971443 0.9948431 NA 0.001865119 NA FALSE NA 1 7.575 . missense_variant MODERATE PLEKHG3 HGNC 20364 ENST00000247226 8/15 rs551215137 1 deleterious(0) possibly_damaging(0.681) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TCC C,T 8.236e-06 14:64732173 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 missense_variant 6.357503 0.99361 0.99124 0.67177 0.9986598 0 1.163772e-08 FALSE NA ENSE00001798716_020 ENSE00001798716 020 14 65198766 65198935 + 47 87 36 G A 65198899 674 134 TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCACTTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732180 64732181 64732181 exon -1 1 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAAGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant 153 229 0.85 0.8672723 0.8586362 136 485 0.7844931 0.8071579 0.7958255 0.9962006 0.998088 0.9966472 0.993039 -0.1462006 -0.1308157 -0.2121541 -0.1858811 0.9971443 0.9948431 -0.1385082 -0.1990176 0.06050945 FALSE FALSE 1 7.723 . splice_region_variant&synonymous_variant LOW PLEKHG3 HGNC 20364 ENST00000247226 8/15 1 NA AGG G,A 8.236e-06 14:64732181 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 splice_region_variant 2.149256 0.98937 0.98685 0.67177 0.8903152 0 1.163772e-08 FALSE 4.06402e-06 ENSE00001798716_021 ENSE00001798716 021 14 65198766 65198935 + 47 87 36 C T 65198911 675 146 TCTCCTTGCACACAGTCAGGAGCTAGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732192 64732193 64732193 downstr_intron 12 1.342857 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCTAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 485 227 1 1 1 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 0.006961049 0.9971443 0.9948431 NA 0.005156905 NA FALSE NA 0 -1.155 . intron_variant MODIFIER PLEKHG3 HGNC 20364 ENST00000247226 8/14 1 NA CCA C,T 8.236e-06 14:64732193 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 intron_variant 0.259255 0.14285 0.01069 0.088506 0.4192068 0.0522665 1.163772e-08 FALSE 1.62643e-05 ENSE00001798716_023 ENSE00001798716 023 14 65198766 65198935 + 47 87 36 A C 65198920 677 155 TCTCCTTGCACACAGGCAGGAGCTGGGGGAACTCACCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCCTGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 64732201 64732202 64732202 downstr_intron 21 1.6 GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGCCTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA mutant NA NA NA NA NA 121 449 1 0.998546 0.999273 0.9962006 0.998088 0.9966472 0.993039 NA NA 0.00335276 0.005507001 0.9971443 0.9948431 NA 0.004429881 NA FALSE NA 0 -0.204 NA NA NA PLEKHG3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64732202 PLEKHG3 HGNC Symbol protein_coding 46145 ENSG00000126822 ENSE00003479499 intron_variant -0.233182 0.1562 0.04042 0.088506 0.4559535 0.0528569 1.163772e-08 FALSE 4.06825e-06 ENSE00001798716_BRK ENSE00001798716 BRK 14 65198766 65198935 + 47 87 36 A,G; T,T NA NA NA TCTCCTTGCACACAGTCAGGAGCTGGGGGAACTCGGCTTCTGGGGAATGGTGGCATGGTGGTTCTCTAGGATGAGCCTCTTGATGTGGTGAGTCCAGTTCCGTTTCTCCTCCACTGTCTTGGCAAGGGAGGACCCAAGGGAAAGGGACCCAGTGGTTATCATTACAGGCC 64732047 64732217 NA NA NA NA NA NA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCTTGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGCCGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA GGCCTGTAATGATAACCACTGGGTCCCTTTCCCTTGGGTCCTCCCAGGCCAAGACAGTGGAGGAGAAACGGAACTGGACTCACCACATCAAGAGGCTCATCCTAGAGAACCACCATGCCACCATTCCCCAGAAGGTGAGTTCCCCCAGCTCCTGACTGTGTGCAAGGAGA control 240 55 0 0 0 NA NA NA NA NA 0.9962006 0.998088 0.9966472 0.993039 -0.9962006 -0.998088 NA NA 0.9971443 0.9948431 -0.9971443 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG3 NA NA NA ENSG00000126822 ENSE00003479499 NA NA NA NA NA NA NA 1.163772e-08 FALSE NA ENSE00001799441_000 ENSE00001799441 000 7 38937631 38937800 - 60 39 71 NA NA NA NA NA ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 NA NA NA NA NA NA ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG natural 48 36 0.983025 0.9945226 0.9887738 2866 5340 0.8648888 0.7933909 0.8291398 0.983025 0.9945226 0.8648888 0.7933909 0 0 0 0 0.9887738 0.8291398 0 0 0 FALSE FALSE NA NA NA NA NA VPS41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS41 NA NA NA ENSG00000006715 ENSE00003639714 NA NA NA NA NA NA NA 1.163498e-08 FALSE NA ENSE00001799441_001 ENSE00001799441 001 7 38937631 38937800 - 60 39 71 C T 38937647 934 154 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACATTGTTCTCTTGAGTTG 38898030 38898200 38898046 38898047 38898047 downstr_intron 44 1.745763 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACATTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 311 256 0.9309584 0.9640685 0.9475135 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.06606959 0.1706776 0.9887738 0.8291398 NA 0.1183736 NA FALSE NA 0 -0.908 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 2/28 rs369339594 1 NA T:0 T:0.0003 ACG C,T 0.0001565 7:38898047 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 intron_variant -0.045663 0.10354 0.02361 0.262962 0.6335444 0.0443366 1.163498e-08 FALSE 0.000122091 ENSE00001799441_003 ENSE00001799441 003 7 38937631 38937800 - 60 39 71 T A 38937649 936 152 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCTCGTTGTTCTCTTGAGTTG 38898030 38898200 38898048 38898049 38898049 downstr_intron 42 1.711864 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCTCGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 324 340 0.8658929 0.9889979 0.9274454 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.00100405 0.1956071 0.9887738 0.8291398 NA 0.09830556 NA FALSE NA 0 0.091 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 2/28 rs199991290 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GTG T,A 8.236e-06 7:38898049 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 intron_variant 0.360785 0.12144 0.03475 0.262962 0.7190148 0.0443366 1.163498e-08 FALSE NA ENSE00001799441_005 ENSE00001799441 005 7 38937631 38937800 - 60 39 71 C T 38937665 938 136 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCAGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 38898064 38898065 38898065 downstr_intron 26 1.440678 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCAGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 57 472 1 0.9993293 0.9996646 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.1351112 0.2059384 0.9887738 0.8291398 NA 0.1705248 NA FALSE NA 0 -0.765 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 2/28 1 NA CCG C,T 1.647e-05 7:38898065 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 intron_variant 0.761198 0.16714 0.01515 0.262962 0.8572869 0.0443366 1.163498e-08 FALSE 2.44004e-05 ENSE00001799441_007 ENSE00001799441 007 7 38937631 38937800 - 60 39 71 G A 38937676 940 125 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTTAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 38898075 38898076 38898076 downstr_intron 15 1.254237 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTTAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 64 429 0.9734973 0.9996312 0.9865642 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.1086085 0.2062403 0.9887738 0.8291398 NA 0.1574244 NA FALSE NA 0 -0.687 rs142170927 intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 2/28 rs142170927 1 A:0.0012 A:0.0008 A:0.0029 NA A:0 A:0.002 A:0.001 A:0.0005 A:0.0051 TGA G,A 0.003328 7:38898076 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 intron_variant 1.738599 0.13073 0.00961 0.262962 0.8855367 0.24245 1.163498e-08 FALSE 0.00355645 ENSE00001799441_008 ENSE00001799441 008 7 38937631 38937800 - 60 39 71 C G 38937682 941 119 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGCTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 38898081 38898082 38898082 downstr_intron 9 1.152542 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGCTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 701 140 1 0.9848198 0.9924099 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.1351112 0.1914289 0.9887738 0.8291398 NA 0.1632701 NA FALSE NA 0 -0.293 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 2/28 rs376196540 1 NA G:0.0002 G:0 ACC C,G 8.236e-06 7:38898082 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 intron_variant 2.018365 0.41845 0.09309 0.262962 0.8430059 0.259505 1.163498e-08 FALSE 1.62557e-05 ENSE00001799441_009 ENSE00001799441 009 7 38937631 38937800 - 60 39 71 C A 38937685 942 116 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGTTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 38898084 38898085 38898085 downstr_intron 6 1.101695 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGTTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 331 345 1 1 1 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.1351112 0.2066091 0.9887738 0.8291398 NA 0.1708602 NA FALSE NA 0 -1.316 . splice_region_variant&intron_variant LOW VPS41 HGNC 12713 ENST00000310301 2/28 rs370609520 1 NA A:0 A:0.0001 ACC C,A 8.236e-06 7:38898085 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 splice_region_variant 2.225081 0.86061 0.07391 0.262962 0.8754466 0.435267 1.163498e-08 FALSE 4.06395e-06 ENSE00001799441_010 ENSE00001799441 010 7 38937631 38937800 - 60 39 71 A G 38937694 943 107 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCCGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 38898093 38898094 38898094 exon -4 0.9230769 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCCGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 360 879 0.9989666 0.9960477 0.9975072 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.1340778 0.2026569 0.9887738 0.8291398 NA 0.1683673 NA FALSE NA 1 3.029 . synonymous_variant LOW VPS41 HGNC 12713 ENST00000310301 2/29 rs375424343 1 NA G:0.0002 G:0 CAG A,G 8.236e-06 7:38898094 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 synonymous_variant 1.151568 0.97096 0.91855 0.706298 0.668287 0 1.163498e-08 FALSE 4.06385e-06 ENSE00001799441_011 ENSE00001799441 011 7 38937631 38937800 - 60 39 71 C G 38937699 944 102 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATCAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 38898098 38898099 38898099 exon -9 0.7948718 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATCAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 154 912 1 0.9892717 0.9946359 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.1351112 0.1958809 0.9887738 0.8291398 NA 0.165496 NA FALSE NA 1 3.196 . missense_variant MODERATE VPS41 HGNC 12713 ENST00000310301 2/29 1 tolerated(0.15) benign(0.039) NA TCA C,G 8.236e-06 7:38898099 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 missense_variant 2.475071 0.97603 0.9421 0.706298 0.996833 0 1.163498e-08 FALSE 4.06402e-06 ENSE00001799441_012 ENSE00001799441 012 7 38937631 38937800 - 60 39 71 T C 38937740 945 61 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTGTGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 38898139 38898140 38898140 upstr_intron -11 -0.1408451 ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTGTGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 23 153 0.9149671 0.9956562 0.9553116 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.05007827 0.2022653 0.9887738 0.8291398 NA 0.1261718 NA FALSE NA 0 -1.924 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 1/28 rs368229479 1 NA C:0 C:0.0002 ATA T,C 8.236e-05 7:38898140 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 intron_variant -0.357458 0.11326 0.01056 0.078448 0.581858 0.224155 1.163498e-08 FALSE 9.76547e-05 ENSE00001799441_013 ENSE00001799441 013 7 38937631 38937800 - 60 39 71 A T 38937773 946 28 ACTCTTTCCCCTTGCAAATGATTATTCATTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 38898172 38898173 38898173 upstr_intron -44 -0.6056338 ACTCTTTCCCCTTGCAAATGATTATTCATTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG mutant NA NA NA NA NA 233 493 1 0.9959942 0.9979971 0.983025 0.9945226 0.8648888 0.7933909 NA NA 0.1351112 0.2026034 0.9887738 0.8291398 NA 0.1688573 NA FALSE NA 0.017 -0.166 . intron_variant MODIFIER VPS41 HGNC 12713 ENST00000310301 1/28 1 NA AAG A,T 8.237e-06 7:38898173 VPS41 HGNC Symbol protein_coding 209431 ENSG00000006715 ENSE00003639714 intron_variant -0.018286 0.27128 0.07658 0.078448 0.8055976 0.151315 1.163498e-08 FALSE 4.094e-06 ENSE00001799441_BRK ENSE00001799441 BRK 7 38937631 38937800 - 60 39 71 A,G; T,T NA NA NA ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATTTGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGCCAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG 38898030 38898200 NA NA NA NA NA NA ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATTTGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGCCAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG ACTCTTTCCCCTTGCAAATGATTATTCTTTTATCATCTCTTCTGACCATTTTCTTTTTCTATGCTTTATAGGAAACTGGGTCCCTTGAAGAATCTACAGATGAGTCTGAGGTAAGGTGGTGACTCAGGAGCCCTCGGATTTGTAGCTCACCACGTTGTTCTCTTGAGTTG control NA NA NA NA NA 1384 348 0.04369009 0.116479 0.08008453 0.983025 0.9945226 0.8648888 0.7933909 NA NA -0.8211987 -0.6769119 0.9887738 0.8291398 NA -0.7490553 NA TRUE NA NA NA NA NA NA VPS41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS41 NA NA NA ENSG00000006715 ENSE00003639714 NA NA NA NA NA NA NA 1.163498e-08 FALSE NA ENSE00001800310_000 ENSE00001800310 000 14 51383327 51383496 - 33 93 44 NA NA NA NA NA CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 NA NA NA NA NA NA CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT natural 51 40 0.9400949 0.9651132 0.952604 1384 5431 0.8322273 0.9960819 0.9141546 0.9400949 0.9651132 0.8322273 0.9960819 0 0 0 0 0.952604 0.9141546 0 0 0 FALSE FALSE NA NA NA NA NA PYGL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PYGL NA NA NA ENSG00000100504 ENSE00003642482 NA NA NA NA NA NA NA 1.313375e-09 FALSE NA ENSE00001800310_001 ENSE00001800310 001 14 51383327 51383496 - 33 93 44 A G 51383340 374 157 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCCTTTTCCTTTAATT 50916608 50916778 50916621 50916622 50916622 downstr_intron 20 1.625 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCCTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 499 284 0.9805953 0.98222 0.9814076 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1483679 -0.01386192 0.952604 0.9141546 NA 0.06725299 NA FALSE NA 0.082 1.295 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA AAG A,G 8.236e-06 14:50916622 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 intron_variant 1.063694 0.6335 0.26957 0.080785 0.7899725 0.165809 1.313375e-09 FALSE NA ENSE00001800310_002 ENSE00001800310 002 14 51383327 51383496 - 33 93 44 A C 51383342 375 155 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTGCTTTTTCCTTTAATT 50916608 50916778 50916623 50916624 50916624 downstr_intron 18 1.5625 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTGCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 1420 417 0.885507 0.8321957 0.8588513 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.05327961 -0.1638862 0.952604 0.9141546 NA -0.05530328 NA FALSE NA 0.007 0.032 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA GAA A,C 8.236e-06 14:50916624 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 intron_variant 0.518052 0.24049 0.0918 0.080785 0.7491698 0.165809 1.313375e-09 FALSE 1.62483e-05 ENSE00001800310_003 ENSE00001800310 003 14 51383327 51383496 - 33 93 44 A C 51383349 376 148 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGGTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916630 50916631 50916631 downstr_intron 11 1.34375 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGGTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 111 308 0.8450461 0.85 0.847523 545 1200 0.9544083 0.9546833 0.9545458 0.9400949 0.9651132 0.8322273 0.9960819 -0.09504878 -0.1151132 0.122181 -0.04139855 0.952604 0.9141546 -0.105081 0.0403912 0.1454722 FALSE FALSE 0 0.163 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA AAC A,C 4.942e-05 14:50916631 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 intron_variant 1.161994 0.34112 0.29625 0.062308 0.7362773 0.165809 1.313375e-09 FALSE 3.65568e-05 ENSE00001800310_005 ENSE00001800310 005 14 51383327 51383496 - 33 93 44 G A 51383369 378 128 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCTTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916650 50916651 50916651 exon -10 0.9032258 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCTTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 922 146 0.794364 0.9828078 0.8885859 0.9400949 0.9651132 0.8322273 0.9960819 NA NA -0.03786338 -0.01327404 0.952604 0.9141546 NA -0.02556871 NA FALSE NA 0.997 0.321 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA AGG G,A 8.236e-06 14:50916651 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 synonymous_variant 1.511009 0.98464 0.96331 0.706298 0.8366914 0 1.313375e-09 FALSE 4.06157e-06 ENSE00001800310_006 ENSE00001800310 006 14 51383327 51383496 - 33 93 44 T C 51383378 379 119 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAGAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916659 50916660 50916660 exon -19 0.8064516 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAGAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 628 23 0.9967043 1 0.9983521 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1644769 0.003918107 0.952604 0.9141546 NA 0.08419752 NA FALSE NA 1 1.069 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA TTT T,C 8.236e-06 14:50916660 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 synonymous_variant 0.337551 0.97675 0.79695 0.706298 0.8484472 0 1.313375e-09 FALSE 8.12229e-06 ENSE00001800310_007 ENSE00001800310 007 14 51383327 51383496 - 33 93 44 A G 51383382 380 115 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATACTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916663 50916664 50916664 exon -23 0.7634409 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATACTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 1279 154 0.9995487 1 0.9997743 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1673213 0.003918107 0.952604 0.9141546 NA 0.08561971 NA FALSE NA 1 6.188 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 rs541649127 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 AAT A,G 4.118e-05 14:50916664 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 missense_variant 4.466474 0.9946 0.99587 0.706298 0.947176 0 1.313375e-09 FALSE 2.43669e-05 ENSE00001800310_008 ENSE00001800310 008 14 51383327 51383496 - 33 93 44 C T 51383389 381 108 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTATGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916670 50916671 50916671 exon -30 0.688172 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTATGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 10 27 0.85 0.85 0.85 50 552 0.9744196 0.9843246 0.9793721 0.9400949 0.9651132 0.8322273 0.9960819 -0.09009487 -0.1151132 0.1421922 -0.01175726 0.952604 0.9141546 -0.102604 0.06521749 0.1678215 FALSE FALSE 1 4.026 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA ACA C,T 8.236e-06 14:50916671 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 missense_variant 5.344354 0.9887 0.9892 0.706298 0.9979856 0 1.313375e-09 FALSE 4.06138e-06 ENSE00001800310_009 ENSE00001800310 009 14 51383327 51383496 - 33 93 44 C T 51383402 382 95 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTAATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916683 50916684 50916684 exon -43 0.5483871 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTAATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 719 118 0.7628993 0.8021386 0.7825189 0.9400949 0.9651132 0.8322273 0.9960819 NA NA -0.06932809 -0.1939433 0.952604 0.9141546 NA -0.1316357 NA FALSE NA 0.995 0.264 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA TCA C,T 8.236e-06 14:50916684 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 synonymous_variant 1.988093 0.9754 0.95401 0.706298 0.8181957 0 1.313375e-09 FALSE 1.21845e-05 ENSE00001800310_010 ENSE00001800310 010 14 51383327 51383496 - 33 93 44 C T 51383414 383 83 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCAATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916695 50916696 50916696 exon 39 0.4193548 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCAATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 546 664 0.843953 0.85 0.8469765 134 131 0.8676637 0.8296362 0.84865 0.9400949 0.9651132 0.8322273 0.9960819 -0.09614182 -0.1151132 0.03543637 -0.1664457 0.952604 0.9141546 -0.1056275 -0.06550464 0.04012288 FALSE FALSE 1 2.167 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA TCG C,T 2.471e-05 14:50916696 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 synonymous_variant 2.684864 0.9823 0.90329 0.706298 0.8275074 0 1.313375e-09 FALSE 1.62468e-05 ENSE00001800310_011 ENSE00001800310 011 14 51383327 51383496 - 33 93 44 G A 51383415 384 82 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGTGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916696 50916697 50916697 exon 38 0.4086022 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGTGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 175 182 0.9624889 0.9575101 0.9599995 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1302615 -0.03857183 0.952604 0.9141546 NA 0.04584484 NA FALSE NA 1 7.888 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 COSM1607723 1 NA CGC G,A 1.647e-05 14:50916697 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 missense_variant 7.353289 0.99183 0.99705 0.706298 0.9991867 0 1.313375e-09 FALSE 1.2186e-05 ENSE00001800310_012 ENSE00001800310 012 14 51383327 51383496 - 33 93 44 C T 51383416 385 81 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCACGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916697 50916698 50916698 exon 37 0.3978495 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCACGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 34 48 0 0 0 NA NA NA NA NA 0.9400949 0.9651132 0.8322273 0.9960819 -0.9400949 -0.9651132 NA NA 0.952604 0.9141546 -0.952604 NA NA NA TRUE 0.999 3.989 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA GCG C,T 8.236e-06 14:50916698 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 missense_variant 7.929454 0.99616 0.99643 0.706298 0.9990684 0 1.313375e-09 FALSE 8.12374e-06 ENSE00001800310_013 ENSE00001800310 013 14 51383327 51383496 - 33 93 44 G A 51383417 386 80 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTTGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916698 50916699 50916699 exon 36 0.3870968 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTTGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 1708 1552 0.9576476 0.9232332 0.9404404 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1254203 -0.07284874 0.952604 0.9141546 NA 0.02628576 NA FALSE NA 0.014 -0.689 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:50916699 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 synonymous_variant 1.9107 0.95651 0.30662 0.706298 0.8031065 0 1.313375e-09 FALSE 2.43696e-05 ENSE00001800310_014 ENSE00001800310 014 14 51383327 51383496 - 33 93 44 G C 51383417 387 80 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTGGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916698 50916699 50916699 exon 36 0.3870968 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTGGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 3164 654 0.9993871 0.9989456 0.9991664 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1671597 0.002863745 0.952604 0.9141546 NA 0.08501173 NA FALSE NA 0.014 -0.689 NA NA NA PYGL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PYGL NA NA NA ENSG00000100504 ENSE00003642482 synonymous_variant 1.55934 0.95669 0.175 0.706298 0.7208387 0 1.313375e-09 FALSE 4.06161e-06 ENSE00001800310_015 ENSE00001800310 015 14 51383327 51383496 - 33 93 44 T A 51383420 388 77 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCTCTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916701 50916702 50916702 exon 33 0.3548387 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCTCTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 28 56 0.85 0.9285342 0.8892671 561 1484 0.9749751 0.9896954 0.9823352 0.9400949 0.9651132 0.8322273 0.9960819 -0.09009487 -0.03657902 0.1427478 -0.006386518 0.952604 0.9141546 -0.06333694 0.06818063 0.1315176 FALSE FALSE 0.986 0.087 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA GTG T,A 8.236e-06 14:50916702 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 synonymous_variant 2.446256 0.97109 0.92887 0.706298 0.8301407 0 1.313375e-09 FALSE 4.06161e-06 ENSE00001800310_016 ENSE00001800310 016 14 51383327 51383496 - 33 93 44 C A 51383422 389 75 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTTCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916703 50916704 50916704 exon 31 0.3333333 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTTCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 52 67 0.8899378 0.85 0.8699689 328 337 0.9767951 0.9718877 0.9743414 0.9400949 0.9651132 0.8322273 0.9960819 -0.05015706 -0.1151132 0.1445677 -0.02419419 0.952604 0.9141546 -0.08263514 0.06018678 0.1428219 FALSE FALSE 0.833 1.269 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 COSM4051161 1 NA GCA C,A 1.647e-05 14:50916704 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 missense_variant 2.616018 0.98441 0.93329 0.706298 0.9555576 0 1.313375e-09 FALSE 4.06164e-06 ENSE00001800310_018 ENSE00001800310 018 14 51383327 51383496 - 33 93 44 G A 51383432 391 65 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGATACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916713 50916714 50916714 exon 21 0.2258065 CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGATACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 807 1015 0.9891099 0.9978723 0.9934911 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1568825 0.001790389 0.952604 0.9141546 NA 0.07933645 NA FALSE NA 1 4.884 rs2075643 downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 rs2075643&COSM3754001 1 A:0.2354 A:0.0431 A:0.3501 NA A:0.4365 A:0.1829 A:0.2607 A:0.0667 A:0.1748 TGT G,A 0.225 14:50916714 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 synonymous_variant 1.307059 0.98353 0.98165 0.706298 0.8072022 0 1.313375e-09 FALSE 0.238937 ENSE00001800310_019 ENSE00001800310 019 14 51383327 51383496 - 33 93 44 T C 51383470 392 27 CTGAGCCATCCGTTGCCTTCATGTTGGTGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916751 50916752 50916752 upstr_intron -18 -0.3863636 CTGAGCCATCCGTTGCCTTCATGTTGGTGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 115 68 0.85 0.85 0.85 341 102 0.9545608 0.9475976 0.9510792 0.9400949 0.9651132 0.8322273 0.9960819 -0.09009487 -0.1151132 0.1223334 -0.04848429 0.952604 0.9141546 -0.102604 0.03692458 0.1395286 FALSE FALSE 0 -1.463 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 rs541279169 1 C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 ATC T,C 0.00028 14:50916752 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 intron_variant 1.081466 0.19547 0.03764 0.099367 0.6691515 0.0455939 1.313375e-09 FALSE 0.00030873 ENSE00001800310_020 ENSE00001800310 020 14 51383327 51383496 - 33 93 44 A G 51383473 393 24 CTGAGCCATCCGTTGCCTTCATGCTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916754 50916755 50916755 upstr_intron -21 -0.4545455 CTGAGCCATCCGTTGCCTTCATGCTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 27 27 0.85 0.9299449 0.8899724 NA NA NA NA NA 0.9400949 0.9651132 0.8322273 0.9960819 -0.09009487 -0.03516832 NA NA 0.952604 0.9141546 -0.06263159 NA NA NA FALSE 0 0.024 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA AAC A,G 8.236e-06 14:50916755 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 intron_variant 0.016624 0.08348 0.01229 0.099367 0.2836077 0.0805852 1.313375e-09 FALSE 4.06187e-06 ENSE00001800310_021 ENSE00001800310 021 14 51383327 51383496 - 33 93 44 T G 51383476 394 21 CTGAGCCATCCGTTGCCTTCCTGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916757 50916758 50916758 upstr_intron -24 -0.5227273 CTGAGCCATCCGTTGCCTTCCTGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant 22 99 0 0 0 NA NA NA NA NA 0.9400949 0.9651132 0.8322273 0.9960819 -0.9400949 -0.9651132 NA NA 0.952604 0.9141546 -0.952604 NA NA NA TRUE 0 -0.186 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 rs375537661 1 NA G:0.0002 G:0 ATG T,G 4.118e-05 14:50916758 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 intron_variant 0.410942 0.36527 0.04597 0.099367 0.3461177 0.0455939 1.313375e-09 FALSE 5.68694e-05 ENSE00001800310_022 ENSE00001800310 022 14 51383327 51383496 - 33 93 44 C T 51383485 395 12 CTGAGCCATCCATTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916766 50916767 50916767 upstr_intron -33 -0.7272727 CTGAGCCATCCATTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 42 722 1 0.9837164 0.9918582 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1677727 -0.01236549 0.952604 0.9141546 NA 0.07770358 NA FALSE NA 0 -1.945 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA ACG C,T 8.236e-06 14:50916767 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 intron_variant 0.151345 0.25323 0.09033 0.099367 0.4889346 0.0455939 1.313375e-09 FALSE 2.43786e-05 ENSE00001800310_023 ENSE00001800310 023 14 51383327 51383496 - 33 93 44 G A 51383486 396 11 CTGAGCCATCTGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 50916767 50916768 50916768 upstr_intron -34 -0.75 CTGAGCCATCTGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT mutant NA NA NA NA NA 40 247 1 0.9937555 0.9968778 0.9400949 0.9651132 0.8322273 0.9960819 NA NA 0.1677727 -0.002326353 0.952604 0.9141546 NA 0.08272315 NA FALSE NA 0 -4.643 . downstream_gene_variant MODIFIER PYGL HGNC 9725 ENST00000553872 1 NA CGG G,A 4.118e-05 14:50916768 PYGL HGNC Symbol protein_coding 86845 ENSG00000100504 ENSE00003642482 intron_variant -0.649636 0.07127 0.0109 0.099367 0.5685098 0.078053 1.313375e-09 FALSE 2.84426e-05 ENSE00001800310_BRK ENSE00001800310 BRK 14 51383327 51383496 - 33 93 44 A,G; T,T NA NA NA CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCTTGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGCCCTGGATAGTTTGGCTTCTTTTTCCTTTAATT 50916608 50916778 NA NA NA NA NA NA CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCTTGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGCCCTGGATAGTTTGGCTTCTTTTTCCTTTAATT CTGAGCCATCCGTTGCCTTCATGTTGATGTCTTTCCCCACCCAGGTGGCCATCCAGCTGAATGACACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTGCCCTGGTCCAAGGTCTGGATAGTTTGGCTTCTTTTTCCTTTAATT control 66 27 0 0 0 45 553 0.008612822 0 0.004306411 0.9400949 0.9651132 0.8322273 0.9960819 -0.9400949 -0.9651132 -0.8236145 -0.9960819 0.952604 0.9141546 -0.952604 -0.9098482 0.04275583 TRUE TRUE NA NA NA NA NA PYGL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PYGL NA NA NA ENSG00000100504 ENSE00003642482 NA NA NA NA NA NA NA 1.313375e-09 FALSE NA ENSE00001801238_000 ENSE00001801238 000 22 38134598 38134767 + 51 78 41 NA NA NA NA NA CCCTTCCCCACCGTATGTACCCACACCCATGACCCAGCTACCGAGTCTGCCTGCTTCTGGTCAGTCAGGGGGTCTTGGCCTCTGCTTGGTTCTGACTCCTCAGGCTCCTCTGGTTGGAACTGGAGATTAAAAAAAGAACACAGCTTAGCCCAACTTATTCTCCAGGATGC 37738590 37738760 NA NA NA NA NA NA GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG natural 437 712 0.8474873 0.8175202 0.8325038 1402 2261 0.9549117 0.8943402 0.9246259 0.8474873 0.8175202 0.9549117 0.8943402 0 0 0 0 0.8325038 0.9246259 0 0 0 FALSE FALSE NA NA NA NA NA NOL12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIOBP NA NA NA ENSG00000100106 ENSE00003688815 NA NA NA NA NA NA NA 8.946175e-13 FALSE NA ENSE00001801238_004 ENSE00001801238 004 22 38134598 38134767 + 51 78 41 C T 38134643 842 46 CCCTTCCCCACCGTATGTACCCACACCCATGACCCAGCTACCGAGTCTGCCTGCTTCTGGTCAGTCAGGGGGTCTTGGCCTCTGCTTGGTTCTGACTCCTCAGGCTCCTCTGGTTGGAACTGGAAATTAAAAAAAGAACACAGCTTAGCCCAACTTATTCTCCAGGATGC 37738590 37738760 37738635 37738636 37738636 upstr_intron -6 -0.09803922 GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATTTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG mutant NA NA NA NA NA 129 178 0.9976156 0.9895181 0.9935668 0.8474873 0.8175202 0.9549117 0.8943402 NA NA 0.0427039 0.09517792 0.8325038 0.9246259 NA 0.06894091 NA FALSE NA 0.543 0.927 . splice_region_variant&intron_variant&NMD_transcript_variant LOW NOL12 HGNC 28585 ENST00000455236 14/27 1 NA TCT C,T 8.267e-06 22:37738636 TRIOBP HGNC Symbol protein_coding 79568 ENSG00000100106 ENSE00003688815 splice_region_variant 1.410836 0.71977 0.34812 0.065574 0.6744209 0.480833 8.946175e-13 FALSE 1.22001e-05 ENSE00001801238_007 ENSE00001801238 007 22 38134598 38134767 + 51 78 41 C T 38134655 845 58 CCCTTCCCCACCGTATGTACCCACACCCATGACCCAGCTACCGAGTCTGCCTGCTTCTGGTCAGTCAGGGGGTCTTGGCCTCTGCTTGGTTCTGACTCCTCAGGCTCCTCTGATTGGAACTGGAGATTAAAAAAAGAACACAGCTTAGCCCAACTTATTCTCCAGGATGC 37738590 37738760 37738647 37738648 37738648 exon 7 0.08974359 GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAATCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG mutant NA NA NA NA NA 64 13 0.8 0.8 0.8 0.8474873 0.8175202 0.9549117 0.8943402 NA NA -0.1549117 -0.09434017 0.8325038 0.9246259 NA -0.1246259 NA FALSE NA 0.236 -0.189 NA NA NA NOL12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:37738648 TRIOBP HGNC Symbol protein_coding 79568 ENSG00000100106 ENSE00003688815 missense_variant 2.186085 0.81387 0.06145 0.609539 0.875985 0 8.946175e-13 FALSE 7.31559e-05 ENSE00001801238_014 ENSE00001801238 014 22 38134598 38134767 + 51 78 41 C A 38134709 852 112 CCCTTCCCCACCGTATGTACCCACACCCATGACCCAGCTACCGAGTCTGCCTGCTTCTTGTCAGTCAGGGGGTCTTGGCCTCTGCTTGGTTCTGACTCCTCAGGCTCCTCTGGTTGGAACTGGAGATTAAAAAAAGAACACAGCTTAGCCCAACTTATTCTCCAGGATGC 37738590 37738760 37738701 37738702 37738702 exon -18 0.7820513 GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACAAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG mutant NA NA NA NA NA 157 140 0.9872831 0.9190731 0.9531781 0.8474873 0.8175202 0.9549117 0.8943402 NA NA 0.03237143 0.02473291 0.8325038 0.9246259 NA 0.02855217 NA FALSE NA 0.901 0.969 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER NOL12 HGNC 28585 ENST00000455236 15/28 rs370224413 1 NA A:0 A:0.0002 CCA C,A 0.0001488 22:37738702 TRIOBP HGNC Symbol protein_coding 79568 ENSG00000100106 ENSE00003688815 missense_variant 4.289979 0.87794 0.51373 0.609539 0.9797853 0 8.946175e-13 FALSE 0.000134109 ENSE00001801238_020 ENSE00001801238 020 22 38134598 38134767 + 51 78 41 T C 38134749 858 152 CCCTTCCCCACCGTATGTGCCCACACCCATGACCCAGCTACCGAGTCTGCCTGCTTCTGGTCAGTCAGGGGGTCTTGGCCTCTGCTTGGTTCTGACTCCTCAGGCTCCTCTGGTTGGAACTGGAGATTAAAAAAAGAACACAGCTTAGCCCAACTTATTCTCCAGGATGC 37738590 37738760 37738741 37738742 37738742 downstr_intron 23 1.575 GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGCACATACGGTGGGGAAGGG GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG mutant NA NA NA NA NA 134 69 0.933057 0.9387391 0.9358981 0.8474873 0.8175202 0.9549117 0.8943402 NA NA -0.0218547 0.04439896 0.8325038 0.9246259 NA 0.01127213 NA FALSE NA 0.007 -0.221 . intron_variant&NMD_transcript_variant MODIFIER NOL12 HGNC 28585 ENST00000455236 15/27 rs374761133 1 NA C:0 C:0.0001 GTA T,C 1.653e-05 22:37738742 TRIOBP HGNC Symbol protein_coding 79568 ENSG00000100106 ENSE00003688815 intron_variant 0.113205 0.14826 0.00869 0.228283 0.6567913 0.0774872 8.946175e-13 FALSE 8.15681e-06 ENSE00001801238_022 ENSE00001801238 022 22 38134598 38134767 + 51 78 41 G A 38134756 860 159 CCCTTCCCCACTGTATGTACCCACACCCATGACCCAGCTACCGAGTCTGCCTGCTTCTGGTCAGTCAGGGGGTCTTGGCCTCTGCTTGGTTCTGACTCCTCAGGCTCCTCTGGTTGGAACTGGAGATTAAAAAAAGAACACAGCTTAGCCCAACTTATTCTCCAGGATGC 37738590 37738760 37738748 37738749 37738749 downstr_intron 30 1.75 GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACAGTGGGGAAGGG GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG mutant NA NA NA NA NA 317 69 0.8101189 0.8335771 0.821848 0.8474873 0.8175202 0.9549117 0.8943402 NA NA -0.1447928 -0.06076307 0.8325038 0.9246259 NA -0.1027779 NA FALSE NA 0.721 1.457 . intron_variant&NMD_transcript_variant MODIFIER NOL12 HGNC 28585 ENST00000455236 15/27 rs200935727 1 A:0.0004 A:0 A:0 NA A:0.001 A:0.001 A:0 A:0 A:0.0001 CGG G,A 4.96e-05 22:37738749 TRIOBP HGNC Symbol protein_coding 79568 ENSG00000100106 ENSE00003688815 intron_variant 0.285401 0.21263 0.16576 0.228283 0.4742166 0.153087 8.946175e-13 FALSE 2.86815e-05 ENSE00001801238_BRK ENSE00001801238 BRK 22 38134598 38134767 + 51 78 41 A,G; T,T NA NA NA CCCTTCCCCACCGTATGTACCCACACCCATGACCCAGCTGGCGAGTCTGCCTGCTTCTGGTCAGTCAGGGGGTCTTGGCCTCTGCTTGGTTCTGACTCCTCAGGCTCCTCTGGTTGGAAAAGGAGATTAAAAAAAGAACACAGCTTAGCCCAACTTATTCTCCAGGATGC 37738590 37738760 NA NA NA NA NA NA GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCTTTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGCCAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG GCATCCTGGAGAATAAGTTGGGCTAAGCTGTGTTCTTTTTTTAATCTCCAGTTCCAACCAGAGGAGCCTGAGGAGTCAGAACCAAGCAGAGGCCAAGACCCCCTGACTGACCAGAAGCAGGCAGACTCGGTAGCTGGGTCATGGGTGTGGGTACATACGGTGGGGAAGGG control NA NA NA NA NA 398 83 0 0 0 0.8474873 0.8175202 0.9549117 0.8943402 NA NA -0.9549117 -0.8943402 0.8325038 0.9246259 NA -0.9246259 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIOBP NA NA NA ENSG00000100106 ENSE00003688815 NA NA NA NA NA NA NA 8.946175e-13 FALSE NA ENSE00001802137_000 ENSE00001802137 000 7 7459471 7459640 - 45 69 56 NA NA NA NA NA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 NA NA NA NA NA NA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA natural NA NA NA NA NA 2384 1491 0.9479289 0.7760432 0.8619861 NA NA 0.9479289 0.7760432 NA NA 0 0 NA 0.8619861 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003536848 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001802137_002 ENSE00001802137 002 7 7459471 7459640 - 45 69 56 C A 7459484 395 157 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGTTCAGATATCATCA 7419839 7420009 7419852 7419853 7419853 downstr_intron 32 1.727273 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGTTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 349 953 1 0.9514875 0.9757437 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.1754442 NA 0.8619861 NA 0.1137577 NA FALSE NA 0 -0.895 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7419853 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 intron_variant 0.466777 0.17954 0.02133 0.053691 0.764499 0.0937141 1.893035e-20 FALSE NA ENSE00001802137_004 ENSE00001802137 004 7 7459471 7459640 - 45 69 56 A C 7459494 397 147 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTGTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419862 7419863 7419863 downstr_intron 22 1.5 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTGTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 369 1558 1 0.9920155 0.9960077 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2159722 NA 0.8619861 NA 0.1340217 NA FALSE NA 0 -0.468 . intron_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/1 1 NA AAA A,C 8.273e-06 7:7419863 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 intron_variant -0.109802 0.15252 0.00883 0.053691 0.6141637 0.0937141 1.893035e-20 FALSE NA ENSE00001802137_005 ENSE00001802137 005 7 7459471 7459640 - 45 69 56 G A 7459496 398 145 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGTTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419864 7419865 7419865 downstr_intron 20 1.454545 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGTTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 13 136 0.9967907 0.9621453 0.979468 NA NA 0.9479289 0.7760432 NA NA 0.04886177 0.186102 NA 0.8619861 NA 0.1174819 NA FALSE NA 0 0.022 . intron_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/1 rs375609310 1 NA A:0.0003 A:0 AGC G,A 8.273e-06 7:7419865 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 intron_variant 0.19603 0.13521 0.04042 0.053691 0.4723663 0.0937141 1.893035e-20 FALSE NA ENSE00001802137_007 ENSE00001802137 007 7 7459471 7459640 - 45 69 56 T A 7459505 400 136 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCTGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419873 7419874 7419874 downstr_intron 11 1.25 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCTGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 1019 523 0.9959953 0.9991853 0.9975903 NA NA 0.9479289 0.7760432 NA NA 0.04806638 0.2231421 NA 0.8619861 NA 0.1356042 NA FALSE NA 0 -0.052 rs79046726 intron_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/1 rs79046726 1 A:0.0132 A:0.0477 A:0.0043 NA A:0 A:0 A:0 A:0.0412 A:0 CTG T,A 0.003814 7:7419874 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 intron_variant 1.334687 0.14201 0.03254 0.053691 0.7493905 0.220457 1.893035e-20 FALSE 0.00318311 ENSE00001802137_008 ENSE00001802137 008 7 7459471 7459640 - 45 69 56 A T 7459507 401 134 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCACAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419875 7419876 7419876 downstr_intron 9 1.204545 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCACAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 231 843 1 1 1 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2239568 NA 0.8619861 NA 0.1380139 NA FALSE NA 0.001 1.095 . intron_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/1 1 NA GAG A,T 3.309e-05 7:7419876 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 intron_variant 1.520262 0.14906 0.03719 0.053691 0.8091518 0.220457 1.893035e-20 FALSE 4.41209e-05 ENSE00001802137_010 ENSE00001802137 010 7 7459471 7459640 - 45 69 56 T C 7459519 403 122 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCGAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419887 7419888 7419888 exon -4 0.9565217 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCGAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 144 95 1 1 1 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2239568 NA 0.8619861 NA 0.1380139 NA FALSE NA 0.984 -0.249 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA TTG T,C 8.275e-06 7:7419888 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 synonymous_variant 0.334425 0.95655 0.53534 0.487112 0.7843087 0 1.893035e-20 FALSE NA ENSE00001802137_011 ENSE00001802137 011 7 7459471 7459640 - 45 69 56 C T 7459523 404 118 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGAGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419891 7419892 7419892 exon -8 0.8985507 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGAGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 1131 260 0.9977809 1 0.9988904 NA NA 0.9479289 0.7760432 NA NA 0.04985197 0.2239568 NA 0.8619861 NA 0.1369044 NA FALSE NA 1 3.749 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 rs372891867 1 NA T:0 T:0.0001 CCC C,T 8.276e-06 7:7419892 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 6.804762 0.98146 0.90581 0.487112 0.9979225 0 1.893035e-20 FALSE 4.26374e-06 ENSE00001802137_013 ENSE00001802137 013 7 7459471 7459640 - 45 69 56 T C 7459534 406 107 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTGGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419902 7419903 7419903 exon -19 0.7391304 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTGGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 265 1263 0.9939452 0.9996679 0.9968065 NA NA 0.9479289 0.7760432 NA NA 0.04601624 0.2236246 NA 0.8619861 NA 0.1348204 NA FALSE NA 0.057 -0.221 rs190423830 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 rs190423830 1 C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 C:0.0008 C:0 CTA T,C 0.0001573 7:7419903 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 synonymous_variant 0.454628 0.94644 0.1003 0.487112 0.8458037 0 1.893035e-20 FALSE 0.000126423 ENSE00001802137_014 ENSE00001802137 014 7 7459471 7459640 - 45 69 56 C T 7459536 407 105 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCATAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419904 7419905 7419905 exon -21 0.7101449 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCATAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 215 293 1 1 1 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2239568 NA 0.8619861 NA 0.1380139 NA FALSE NA 0.001 -0.157 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 rs368993954 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0008 T:0 ACG C,T 0.0001904 7:7419905 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 1.30647 0.69648 0.00422 0.487112 0.398248 0 1.893035e-20 FALSE 0.000147633 ENSE00001802137_015 ENSE00001802137 015 7 7459471 7459640 - 45 69 56 C T 7459541 408 100 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCAGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419909 7419910 7419910 exon -26 0.6376812 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCAGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 376 200 0.976354 0.9992084 0.9877812 NA NA 0.9479289 0.7760432 NA NA 0.02842505 0.2231652 NA 0.8619861 NA 0.1257951 NA FALSE NA 0.966 1.001 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:7419910 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 4.316534 0.96233 0.70304 0.487112 0.9990416 0 1.893035e-20 FALSE 3.78558e-05 ENSE00001802137_016 ENSE00001802137 016 7 7459471 7459640 - 45 69 56 C A 7459541 409 100 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCTGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419909 7419910 7419910 exon -26 0.6376812 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCTGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 16 11 1 1 1 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2239568 NA 0.8619861 NA 0.1380139 NA FALSE NA 0.966 1.001 NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003536848 missense_variant 4.068309 0.96348 0.70911 0.487112 0.9966977 0 1.893035e-20 FALSE 0 ENSE00001802137_018 ENSE00001802137 018 7 7459471 7459640 - 45 69 56 G C 7459544 411 97 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCGTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419912 7419913 7419913 exon -29 0.5942029 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCGTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 300 98 1 0.9914051 0.9957025 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2153618 NA 0.8619861 NA 0.1337165 NA FALSE NA 1 4.862 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA AGG G,C 4.966e-05 7:7419913 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 5.574644 0.98308 0.94543 0.487112 0.9986142 0 1.893035e-20 FALSE 4.2043e-05 ENSE00001802137_019 ENSE00001802137 019 7 7459471 7459640 - 45 69 56 C T 7459548 412 93 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTAGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419916 7419917 7419917 exon -33 0.5362319 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTAGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 364 134 0.9939685 1 0.9969843 NA NA 0.9479289 0.7760432 NA NA 0.04603959 0.2239568 NA 0.8619861 NA 0.1349982 NA FALSE NA 0.996 1.637 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA CCA C,T 0.0001159 7:7419917 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 6.312134 0.97026 0.77504 0.487112 0.9992392 0 1.893035e-20 FALSE 8.41517e-05 ENSE00001802137_020 ENSE00001802137 020 7 7459471 7459640 - 45 69 56 G T 7459554 413 87 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTACTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419922 7419923 7419923 exon 31 0.4492754 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTACTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 662 821 1 0.9941667 0.9970833 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2181234 NA 0.8619861 NA 0.1350973 NA FALSE NA 1 3.293 rs115211979 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 rs115211979 1 T:0.0313 T:0.0893 T:0.0115 NA T:0.003 T:0.004 T:0.0245 T:0.0664 T:0.0013 GGA G,T 0.01 7:7419923 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 3.409325 0.82584 0.81934 0.487112 0.9945537 0 1.893035e-20 FALSE 0.00897163 ENSE00001802137_021 ENSE00001802137 021 7 7459471 7459640 - 45 69 56 C T 7459557 414 84 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAAGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419925 7419926 7419926 exon 28 0.4057971 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAAGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 465 98 0.9970423 0.9800083 0.9885253 NA NA 0.9479289 0.7760432 NA NA 0.04911339 0.203965 NA 0.8619861 NA 0.1265392 NA FALSE NA 0.991 3.835 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA CCT C,T 8.278e-06 7:7419926 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 6.515668 0.94441 0.88007 0.487112 0.9986977 0 1.893035e-20 FALSE 4.21909e-06 ENSE00001802137_022 ENSE00001802137 022 7 7459471 7459640 - 45 69 56 T C 7459558 415 83 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCGGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419926 7419927 7419927 exon 27 0.3913043 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCGGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 436 85 1 0.9837349 0.9918674 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2076916 NA 0.8619861 NA 0.1298814 NA FALSE NA 0.075 -2.754 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 rs377756777 1 NA C:0 C:0.0001 CTG T,C 8.278e-06 7:7419927 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 synonymous_variant 0.165359 0.63766 0.02722 0.487112 0.6814427 0 1.893035e-20 FALSE NA ENSE00001802137_023 ENSE00001802137 023 7 7459471 7459640 - 45 69 56 T C 7459569 416 72 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCGGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419937 7419938 7419938 exon 16 0.2318841 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCGGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 39 17 1 1 1 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2239568 NA 0.8619861 NA 0.1380139 NA FALSE NA 0.964 3.934 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA CTG T,C 1.656e-05 7:7419938 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 4.852493 0.97859 0.89714 0.487112 0.9975891 0 1.893035e-20 FALSE NA ENSE00001802137_024 ENSE00001802137 024 7 7459471 7459640 - 45 69 56 C T 7459575 417 66 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTAGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419943 7419944 7419944 exon 10 0.1449275 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTAGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 791 1191 0.0006187281 0.0004244982 0.0005216132 NA NA 0.9479289 0.7760432 NA NA -0.9473102 -0.7756187 NA 0.8619861 NA -0.8614645 NA TRUE NA 0.98 3.835 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA CCA C,T 8.279e-06 7:7419944 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 missense_variant 6.746851 0.9812 0.90498 0.487112 0.9992899 0 1.893035e-20 FALSE NA ENSE00001802137_026 ENSE00001802137 026 7 7459471 7459640 - 45 69 56 C T 7459594 419 47 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTATCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419962 7419963 7419963 upstr_intron -10 -0.1607143 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTATCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 940 164 0.9978273 0.9888252 0.9933263 NA NA 0.9479289 0.7760432 NA NA 0.04989841 0.212782 NA 0.8619861 NA 0.1313402 NA FALSE NA 0 -1.373 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 rs370233766 1 NA ACA C,T 8.281e-06 7:7419963 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 non_coding_transcript_exon_variant 0.453126 0.91397 0.03005 0.053691 0.6398831 0.325615 1.893035e-20 FALSE NA ENSE00001802137_027 ENSE00001802137 027 7 7459471 7459640 - 45 69 56 A C 7459595 420 46 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGGGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419963 7419964 7419964 upstr_intron -11 -0.1785714 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGGGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 696 69 0.04641843 0 0.02320921 NA NA 0.9479289 0.7760432 NA NA -0.9015105 -0.7760432 NA 0.8619861 NA -0.8387769 NA TRUE NA 0.001 2.017 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA CAC A,C 7.455e-05 7:7419964 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 non_coding_transcript_exon_variant 0.359666 0.93148 0.14011 0.053691 0.605616 0.316458 1.893035e-20 FALSE 6.42419e-05 ENSE00001802137_028 ENSE00001802137 028 7 7459471 7459640 - 45 69 56 A G 7459597 421 44 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTCGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419965 7419966 7419966 upstr_intron -13 -0.2142857 AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTCGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 67 393 1 0.960473 0.9802365 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.1844298 NA 0.8619861 NA 0.1182504 NA FALSE NA 0.001 2.74 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA CAA A,G 8.283e-06 7:7419966 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 non_coding_transcript_exon_variant 0.278787 0.81524 0.28487 0.053691 0.5865686 0.305103 1.893035e-20 FALSE NA ENSE00001802137_029 ENSE00001802137 029 7 7459471 7459640 - 45 69 56 A G 7459608 422 33 AAAAAACATAAAGTCTTTAAAAAATTAGTAACCTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419976 7419977 7419977 upstr_intron -24 -0.4107143 AAAAAACATAAAGTCTTTAAAAAATTAGTAACCTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 32 441 1 1 1 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.2239568 NA 0.8619861 NA 0.1380139 NA FALSE NA 0.006 0.635 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA AAG A,G 8.296e-06 7:7419977 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 non_coding_transcript_exon_variant 0.066988 0.17484 0.09205 0.053691 0.5066335 0.14875 1.893035e-20 FALSE 5.33316e-06 ENSE00001802137_030 ENSE00001802137 030 7 7459471 7459640 - 45 69 56 G A 7459609 423 32 AAAAAACATAAAGTCTTTAAAAAATTAGTAATTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419977 7419978 7419978 upstr_intron -25 -0.4285714 AAAAAACATAAAGTCTTTAAAAAATTAGTAATTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 112 1475 0.9939685 0.9992222 0.9965953 NA NA 0.9479289 0.7760432 NA NA 0.04603959 0.223179 NA 0.8619861 NA 0.1346093 NA FALSE NA 0.01 -0.016 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA AGT G,A 0.0001163 7:7419978 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 non_coding_transcript_exon_variant 0.238291 0.16899 0.01631 0.053691 0.6818324 0.14875 1.893035e-20 FALSE 0.000147567 ENSE00001802137_031 ENSE00001802137 031 7 7459471 7459640 - 45 69 56 A G 7459612 424 29 AAAAAACATAAAGTCTTTAAAAAATTAGCAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419980 7419981 7419981 upstr_intron -28 -0.4821429 AAAAAACATAAAGTCTTTAAAAAATTAGCAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 400 246 0.8090667 0.800587 0.8048269 NA NA 0.9479289 0.7760432 NA NA -0.1388622 0.02454376 NA 0.8619861 NA -0.0571592 NA FALSE NA 0.009 1.885 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA TAC A,G 2.507e-05 7:7419981 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 non_coding_transcript_exon_variant 0.241759 0.19613 0.13312 0.053691 0.6736046 0.115221 1.893035e-20 FALSE 3.47399e-05 ENSE00001802137_032 ENSE00001802137 032 7 7459471 7459640 - 45 69 56 A T 7459615 425 26 AAAAAACATAAAGTCTTTAAAAAATAAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 7419983 7419984 7419984 upstr_intron -31 -0.5357143 AAAAAACATAAAGTCTTTAAAAAATAAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA mutant NA NA NA NA NA 136 161 1 0.9712112 0.9856056 NA NA 0.9479289 0.7760432 NA NA 0.05207108 0.195168 NA 0.8619861 NA 0.1236195 NA FALSE NA 0 -0.827 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL28A1 HGNC 22442 ENST00000465339 1/2 1 NA TAA A,T 3.392e-05 7:7419984 COL28A1 HGNC Symbol protein_coding 179650 ENSG00000215018 ENSE00003536848 non_coding_transcript_exon_variant -0.191171 0.12953 0.02535 0.053691 0.6109569 0.0814416 1.893035e-20 FALSE 4.8506e-05 ENSE00001802137_BRK ENSE00001802137 BRK 7 7459471 7459640 - 45 69 56 A,G; T,T NA NA NA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCTTGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGCCGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA 7419839 7420009 NA NA NA NA NA NA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCTTGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGCCGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA AAAAAACATAAAGTCTTTAAAAAATTAGTAACTTGTTATTTGTTGTGTCTTTTCAGGGAGAGCCTGGGGTCAGAGGCCCTCCAGGTCCTTCTGGGCCTCGGGGCGTAGGAACCCAAGGGCCAAAGGTGAGTCCTCAGCTCAGTGCTTTGTGTGAGGGTCAGATATCATCA control 70 14 0 0 0 149 58 0 0 0 NA NA 0.9479289 0.7760432 NA NA -0.9479289 -0.7760432 NA 0.8619861 NA -0.8619861 NA TRUE NA NA NA NA NA NA COL28A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL28A1 NA NA NA ENSG00000215018 ENSE00003536848 NA NA NA NA NA NA NA 1.893035e-20 FALSE NA ENSE00001802357_000 ENSE00001802357 000 6 70778252 70778421 + 63 54 53 NA NA NA NA NA CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 NA NA NA NA NA NA CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT natural 50 67 0.9926145 0.9807461 0.9866803 3667 2749 0.9684808 0.840434 0.9044574 0.9926145 0.9807461 0.9684808 0.840434 0 0 0 0 0.9866803 0.9044574 0 0 0 FALSE FALSE NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003746253 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001802357_002 ENSE00001802357 002 6 70778252 70778421 + 63 54 53 G A 70778269 1492 18 CATTCTTTGTGAGGCAGATGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068376 70068377 70068377 upstr_intron -46 -0.7142857 CATTCTTTGTGAGGCAGATGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 397 3509 0.9991677 0.9891775 0.9941726 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.03068695 0.1487435 0.9866803 0.9044574 NA 0.08971523 NA FALSE NA 0 -1.515 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 rs374218193 1 NA A:0 A:0.0003 GGT G,A 3.295e-05 6:70068377 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.415992 0.10333 0.02116 0.078448 0.3986361 0.0656904 5.55032e-17 FALSE 4.92931e-05 ENSE00001802357_003 ENSE00001802357 003 6 70778252 70778421 + 63 54 53 A T 70778278 1493 27 CATTCTTTGTGAGGCAGGTGTACTTGTAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068385 70068386 70068386 upstr_intron -37 -0.5714286 CATTCTTTGTGAGGCAGGTGTACTTGTAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 451 248 0.9045351 1 0.9522676 0.9926145 0.9807461 0.9684808 0.840434 NA NA -0.06394567 0.159566 0.9866803 0.9044574 NA 0.04781016 NA FALSE NA 0 0.425 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 rs199962421 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GAA A,T 8.237e-06 6:70068386 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.801147 0.18791 0.03209 0.078448 0.7384937 0.0665926 5.55032e-17 FALSE 4.09658e-06 ENSE00001802357_004 ENSE00001802357 004 6 70778252 70778421 + 63 54 53 T C 70778284 1494 33 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGCGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068391 70068392 70068392 upstr_intron -31 -0.4761905 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGCGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 335 455 1 1 1 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0315192 0.159566 0.9866803 0.9044574 NA 0.09554259 NA FALSE NA 0 -0.015 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 1 NA GTG T,C 8.237e-06 6:70068392 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.177547 0.1219 0.02257 0.078448 0.5622822 0.0665926 5.55032e-17 FALSE 4.0945e-06 ENSE00001802357_005 ENSE00001802357 005 6 70778252 70778421 + 63 54 53 A G 70778287 1495 36 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTGTTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068394 70068395 70068395 upstr_intron -28 -0.4285714 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTGTTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 1388 95 0.9990772 0.9983316 0.9987044 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.03059642 0.1578976 0.9866803 0.9044574 NA 0.09424699 NA FALSE NA 0 -0.154 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 1 NA TAT A,G 8.237e-06 6:70068395 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.115801 0.13872 0.01616 0.078448 0.5610159 0.0665926 5.55032e-17 FALSE 4.08918e-06 ENSE00001802357_006 ENSE00001802357 006 6 70778252 70778421 + 63 54 53 T C 70778288 1496 37 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTACTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068395 70068396 70068396 upstr_intron -27 -0.4126984 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTACTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 192 1699 0.9982725 0.9951461 0.9967093 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.02979175 0.1547121 0.9866803 0.9044574 NA 0.0922519 NA FALSE NA 0.001 -0.122 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 1 NA ATT T,C 8.237e-06 6:70068396 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.147638 0.1195 0.01917 0.078448 0.5786668 0.0665926 5.55032e-17 FALSE NA ENSE00001802357_007 ENSE00001802357 007 6 70778252 70778421 + 63 54 53 A G 70778291 1497 40 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAGCATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068398 70068399 70068399 upstr_intron -24 -0.3650794 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAGCATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 1884 133 0.9986079 1 0.9993039 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0301271 0.159566 0.9866803 0.9044574 NA 0.09484654 NA FALSE NA 0.008 0.565 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 1 NA AAC A,G 8.238e-06 6:70068399 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.379391 0.2658 0.04821 0.078448 0.7408093 0.0665926 5.55032e-17 FALSE 4.08824e-06 ENSE00001802357_008 ENSE00001802357 008 6 70778252 70778421 + 63 54 53 A G 70778293 1498 42 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACGTGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068400 70068401 70068401 upstr_intron -22 -0.3333333 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACGTGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 187 23 0.9891271 1 0.9945636 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.02064635 0.159566 0.9866803 0.9044574 NA 0.09010617 NA FALSE NA 0 -0.199 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 1 NA CAT A,G 1.648e-05 6:70068401 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.204521 0.16398 0.02413 0.078448 0.6161291 0.0665926 5.55032e-17 FALSE 1.22664e-05 ENSE00001802357_009 ENSE00001802357 009 6 70778252 70778421 + 63 54 53 T C 70778296 1499 45 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGCGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068403 70068404 70068404 upstr_intron -19 -0.2857143 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGCGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 616 609 1 1 1 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0315192 0.159566 0.9866803 0.9044574 NA 0.09554259 NA FALSE NA 0.189 1.101 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 1 NA GTG T,C 8.238e-06 6:70068404 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant -0.249593 0.16997 0.0843 0.162113 0.692125 0.0665926 5.55032e-17 FALSE 4.08654e-06 ENSE00001802357_010 ENSE00001802357 010 6 70778252 70778421 + 63 54 53 G A 70778297 1500 46 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTATCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068404 70068405 70068405 upstr_intron -18 -0.2698413 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTATCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 1767 1892 0.9996735 0.9993277 0.9995006 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.03119268 0.1588937 0.9866803 0.9044574 NA 0.09504318 NA FALSE NA 0.194 0.913 rs7349861 intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 14/50 rs7349861 1 A:0.1376 A:0.0144 A:0.1441 NA A:0.0119 A:0.335 A:0.226 A:0.0611 A:0.3398 TGT G,A 0.261 6:70068405 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant -0.16811 0.15501 0.09012 0.162113 0.3927709 0.0665926 5.55032e-17 FALSE 0.2595 ENSE00001802357_011 ENSE00001802357 011 6 70778252 70778421 + 63 54 53 C A 70778308 1501 57 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCATCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068415 70068416 70068416 upstr_intron -7 -0.0952381 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCATCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 886 1713 0.9826407 0.9500526 0.9663466 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.01415986 0.1096186 0.9866803 0.9044574 NA 0.06188922 NA FALSE NA 0 0.034 . splice_region_variant&intron_variant LOW COL19A1 HGNC 2196 ENST00000322773 14/50 1 NA CCT C,A 8.238e-06 6:70068416 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 splice_region_variant 1.37424 0.16724 0.05602 0.162113 0.5851565 0.232178 5.55032e-17 FALSE NA ENSE00001802357_012 ENSE00001802357 012 6 70778252 70778421 + 63 54 53 G T 70778316 1502 65 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGTTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068423 70068424 70068424 exon 2 0.03703704 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGTTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 386 171 0.9998933 0.9884942 0.9941938 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.03141254 0.1480602 0.9866803 0.9044574 NA 0.08973635 NA FALSE NA 1 1.289 . missense_variant&splice_region_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 rs200347735 1 deleterious(0) unknown(0) NA T:0 T:0.0001 GGT G,T 8.238e-06 6:70068424 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 1.334861 0.66132 0.64308 0.615465 0.8641042 0 5.55032e-17 FALSE 1.23211e-05 ENSE00001802357_013 ENSE00001802357 013 6 70778252 70778421 + 63 54 53 C T 70778320 1503 69 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCTCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068427 70068428 70068428 exon 6 0.1111111 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCTCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 703 1151 1 0.9836385 0.9918192 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0315192 0.1432045 0.9866803 0.9044574 NA 0.08736184 NA FALSE NA 0.978 -0.031 . synonymous_variant LOW COL19A1 HGNC 2196 ENST00000322773 15/51 COSM3629277 1 NA CCC C,T 8.238e-06 6:70068428 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 synonymous_variant 1.956376 0.43534 0.20354 0.615465 0.6553364 0 5.55032e-17 FALSE 8.24069e-06 ENSE00001802357_014 ENSE00001802357 014 6 70778252 70778421 + 63 54 53 C G 70778321 1504 70 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCGTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068428 70068429 70068429 exon 7 0.1296296 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCGTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 579 421 0.9997352 0.9889466 0.9943409 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.03125443 0.1485126 0.9866803 0.9044574 NA 0.08988353 NA FALSE NA 0.979 0.367 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 1 tolerated(0.41) unknown(0) NA CCT C,G 8.238e-06 6:70068429 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 1.054407 0.20202 0.23344 0.615465 0.8821768 0 5.55032e-17 FALSE 4.11577e-06 ENSE00001802357_016 ENSE00001802357 016 6 70778252 70778421 + 63 54 53 G A 70778325 1506 74 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGAGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068432 70068433 70068433 exon 11 0.2037037 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGAGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 1038 2926 1 0.9967525 0.9983763 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0315192 0.1563185 0.9866803 0.9044574 NA 0.09391885 NA FALSE NA 1 3.956 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 COSM1728592 1 deleterious(0.02) unknown(0) NA GGG G,A 8.238e-06 6:70068433 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 1.512507 0.31171 0.72257 0.615465 0.8673185 0 5.55032e-17 FALSE 8.22328e-06 ENSE00001802357_017 ENSE00001802357 017 6 70778252 70778421 + 63 54 53 A G 70778327 1507 76 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGGTACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068434 70068435 70068435 exon 13 0.2407407 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGGTACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 1411 90 0.9674545 0.9782503 0.9728524 0.9926145 0.9807461 0.9684808 0.840434 NA NA -0.001026338 0.1378163 0.9866803 0.9044574 NA 0.06839499 NA FALSE NA 1 1.868 rs189102523 missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 rs189102523 1 tolerated(0.55) unknown(0) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GAT A,G 5.766e-05 6:70068435 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 0.697605 0.17334 0.30948 0.615465 0.8479076 0 5.55032e-17 FALSE 6.98806e-05 ENSE00001802357_018 ENSE00001802357 018 6 70778252 70778421 + 63 54 53 C T 70778345 1508 94 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTTCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068452 70068453 70068453 exon -24 0.5740741 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTTCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 1072 1031 0.9955949 0.9998522 0.9977236 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0271141 0.1594182 0.9866803 0.9044574 NA 0.09326615 NA FALSE NA 1 4.487 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 COSM3629278&COSM743275 1 tolerated(0.11) unknown(0) NA TCC C,T 8.238e-06 6:70068453 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 2.964492 0.98266 0.90333 0.615465 0.961447 0 5.55032e-17 FALSE NA ENSE00001802357_019 ENSE00001802357 019 6 70778252 70778421 + 63 54 53 C T 70778346 1509 95 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCTACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068453 70068454 70068454 exon -23 0.5925926 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCTACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 1420 1057 0.9960405 0.9270651 0.9615528 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.02755968 0.08663107 0.9866803 0.9044574 NA 0.05709537 NA FALSE NA 1 4.487 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 1 tolerated(0.1) unknown(0) NA CCA C,T 8.238e-06 6:70068454 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 3.396637 0.98329 0.9054 0.615465 0.9708527 0 5.55032e-17 FALSE 8.22281e-06 ENSE00001802357_020 ENSE00001802357 020 6 70778252 70778421 + 63 54 53 C G 70778349 1510 98 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACGTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068456 70068457 70068457 exon -20 0.6481481 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACGTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 135 1273 1 0.9935616 0.9967808 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0315192 0.1531276 0.9866803 0.9044574 NA 0.0923234 NA FALSE NA 1 4.487 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 rs562804000 1 deleterious(0.01) unknown(0) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CCT C,G 8.238e-05 6:70068457 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 2.998868 0.98417 0.92744 0.615465 0.968401 0 5.55032e-17 FALSE 9.87069e-05 ENSE00001802357_022 ENSE00001802357 022 6 70778252 70778421 + 63 54 53 A T 70778358 1512 107 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGTGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068465 70068466 70068466 exon -11 0.8148148 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGTGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 1120 615 0.9960331 0.9741595 0.9850963 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.02755232 0.1337255 0.9866803 0.9044574 NA 0.08063892 NA FALSE NA 1 5.375 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 1 deleterious(0.01) unknown(0) NA GAG A,T 8.238e-06 6:70068466 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 3.258666 0.98097 0.93585 0.615465 0.9297756 0 5.55032e-17 FALSE 4.14175e-06 ENSE00001802357_024 ENSE00001802357 024 6 70778252 70778421 + 63 54 53 A G 70778364 1514 113 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCGGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068471 70068472 70068472 exon -5 0.9259259 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCGGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 683 755 0.9999397 0.9972829 0.9986113 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.03145893 0.1568489 0.9866803 0.9044574 NA 0.09415392 NA FALSE NA 1 3.804 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 15/51 1 tolerated(0.09) unknown(0) NA CAG A,G 8.238e-06 6:70068472 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 missense_variant 2.452001 0.98128 0.90732 0.615465 0.9574243 0 5.55032e-17 FALSE NA ENSE00001802357_025 ENSE00001802357 025 6 70778252 70778421 + 63 54 53 G A 70778365 1515 114 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAAAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068472 70068473 70068473 exon -4 0.9444444 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAAAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 2937 443 0.987731 0.9982108 0.9929709 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.01925021 0.1577768 0.9866803 0.9044574 NA 0.08851348 NA FALSE NA 0.945 -0.12 . synonymous_variant LOW COL19A1 HGNC 2196 ENST00000322773 15/51 1 NA AGA G,A 8.238e-06 6:70068473 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 synonymous_variant 0.949737 0.94675 0.31884 0.615465 0.5765153 0 5.55032e-17 FALSE 4.15576e-06 ENSE00001802357_026 ENSE00001802357 026 6 70778252 70778421 + 63 54 53 G A 70778368 1516 117 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGAGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068475 70068476 70068476 exon -1 1 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGAGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 589 1496 1 0.9978797 0.9989399 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0315192 0.1574457 0.9866803 0.9044574 NA 0.09448247 NA FALSE NA 1 5.682 NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70068476 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 splice_region_variant 2.192626 0.9837 0.9357 0.615465 0.9458312 0 5.55032e-17 FALSE 4.19801e-05 ENSE00001802357_028 ENSE00001802357 028 6 70778252 70778421 + 63 54 53 G T 70778369 1518 118 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGTTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068476 70068477 70068477 downstr_intron 1 1.019231 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGTTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 392 456 0.02041027 0.01260496 0.01650762 0.9926145 0.9807461 0.9684808 0.840434 NA NA -0.9480705 -0.827829 0.9866803 0.9044574 NA -0.8879498 NA TRUE NA 1 5.682 . splice_donor_variant HIGH COL19A1 HGNC 2196 ENST00000322773 15/50 1 NA HC GGT G,T 8.238e-06 6:70068477 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 splice_donor_variant 4.967783 0.98422 0.94471 0.162113 0.9941401 0.977626 5.55032e-17 FALSE 4.19755e-06 ENSE00001802357_029 ENSE00001802357 029 6 70778252 70778421 + 63 54 53 G C 70778378 1519 127 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAACCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068485 70068486 70068486 downstr_intron 10 1.192308 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAACCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 857 1315 0.9986962 0.9834745 0.9910853 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.03021539 0.1430405 0.9866803 0.9044574 NA 0.08662792 NA FALSE NA 1 0.632 rs78801645 intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 15/50 rs2224513&rs201593596 1 G:0.4748 C:0.7988 C:0.3775 NA C:0.2708 C:0.6064 C:0.4387 C:0.3014 C:0.1595 AGC C,C 0.544 6:70068486 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.595512 0.12347 0.025 0.078448 0.5603083 0.123356 5.55032e-17 FALSE 0.530157 ENSE00001802357_032 ENSE00001802357 032 6 70778252 70778421 + 63 54 53 G A 70778391 1522 140 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGATGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 70068498 70068499 70068499 downstr_intron 23 1.442308 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGATGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 187 216 1 1 1 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0315192 0.159566 0.9866803 0.9044574 NA 0.09554259 NA FALSE NA 0.58 0.712 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 15/50 1 NA GGT G,A 8.24e-06 6:70068499 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.963692 0.19034 0.15994 0.078448 0.5801708 0.0791087 5.55032e-17 FALSE 8.66521e-06 ENSE00001802357_033 ENSE00001802357 033 6 70778252 70778421 + 63 54 53 A G 70778397 1523 146 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCGTTACTAACTTAGGGGATACTTATT 70068359 70068529 70068504 70068505 70068505 downstr_intron 29 1.557692 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCGTTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 894 1293 1 0.9976404 0.9988202 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0315192 0.1572064 0.9866803 0.9044574 NA 0.09436278 NA FALSE NA 0.002 -0.005 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 15/50 rs376859070 1 NA G:0.0007 G:0 CAT A,G 6.592e-05 6:70068505 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.582346 0.13075 0.01762 0.078448 0.5057206 0.0791087 5.55032e-17 FALSE 7.96926e-05 ENSE00001802357_034 ENSE00001802357 034 6 70778252 70778421 + 63 54 53 T C 70778402 1524 151 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACCAACTTAGGGGATACTTATT 70068359 70068529 70068509 70068510 70068510 downstr_intron 34 1.653846 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACCAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 651 1589 0.9901548 0.9988177 0.9944863 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.02167404 0.1583837 0.9866803 0.9044574 NA 0.09002888 NA FALSE NA 0.001 0.521 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 15/50 rs527700788 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTA T,C 2.472e-05 6:70068510 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.610155 0.14213 0.01889 0.078448 0.5874763 0.0791087 5.55032e-17 FALSE 2.61972e-05 ENSE00001802357_035 ENSE00001802357 035 6 70778252 70778421 + 63 54 53 G A 70778411 1525 160 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGAGATACTTATT 70068359 70068529 70068518 70068519 70068519 downstr_intron 43 1.826923 CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGAGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT mutant NA NA NA NA NA 959 434 0.9952019 0.9974405 0.9963212 0.9926145 0.9807461 0.9684808 0.840434 NA NA 0.0267211 0.1570065 0.9866803 0.9044574 NA 0.09186381 NA FALSE NA 0 -0.176 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 15/50 1 NA GGG G,A 8.24e-06 6:70068519 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003746253 intron_variant 0.121406 0.17028 0.02591 0.078448 0.444265 0.122945 5.55032e-17 FALSE NA ENSE00001802357_BRK ENSE00001802357 BRK 6 70778252 70778421 + 63 54 53 A,G; T,T NA NA NA CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATTTGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGCCAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT 70068359 70068529 NA NA NA NA NA NA CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATTTGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGCCAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT CATTCTTTGTGAGGCAGGTGTACTTGAAACAGTGTATTAACATGTGTCTCTTTTTCCTCATAGGGTTCCCTGGGGATACAAGGCCCCCAAGGTCCACCTGGAAAAGAGGGTCAGAGGGTAAGTAAAGCTGGAACAACTGGTGGGCATTACTAACTTAGGGGATACTTATT control NA NA NA NA NA 488 387 0.009150521 0 0.00457526 0.9926145 0.9807461 0.9684808 0.840434 NA NA -0.9593303 -0.840434 0.9866803 0.9044574 NA -0.8998821 NA TRUE NA NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003746253 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00001802440_000 ENSE00001802440 000 14 23940061 23940230 + 54 72 44 NA NA NA NA NA AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 NA NA NA NA NA NA TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT natural 63 68 0.9973934 0.9920239 0.9947086 4959 6740 0.9228815 0.8981569 0.9105192 0.9973934 0.9920239 0.9228815 0.8981569 0 0 0 0 0.9947086 0.9105192 0 0 0 FALSE FALSE NA NA NA NA NA NGDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NGDN NA NA NA ENSG00000129460 ENSE00003567859 NA NA NA NA NA NA NA 6.844175e-07 FALSE NA ENSE00001802440_001 ENSE00001802440 001 14 23940061 23940230 + 54 72 44 A C 23940076 213 16 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATAGCAAATTATGTCTGCA 23470851 23471021 23470866 23470867 23470867 upstr_intron -39 -0.7037037 TGCAGACATAATTTGCTATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 167 285 1 1 1 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.1018431 0.9947086 0.9105192 NA 0.08948077 NA FALSE NA 0.002 0.556 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA GAT A,C 8.248e-06 14:23470867 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 intron_variant -0.232851 0.15026 0.06105 0.256391 0.5909537 0.0530327 6.844175e-07 FALSE 6.61306e-06 ENSE00001802440_002 ENSE00001802440 002 14 23940061 23940230 + 54 72 44 A G 23940078 214 18 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTACATCAAATTATGTCTGCA 23470851 23471021 23470868 23470869 23470869 upstr_intron -37 -0.6666667 TGCAGACATAATTTGATGTAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 83 83 1 1 1 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.1018431 0.9947086 0.9105192 NA 0.08948077 NA FALSE NA 0 -0.593 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA TAT A,G 8.391e-06 14:23470869 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 intron_variant -0.110846 0.07862 0.00148 0.256391 0.4694304 0.0530327 6.844175e-07 FALSE NA ENSE00001802440_004 ENSE00001802440 004 14 23940061 23940230 + 54 72 44 A G 23940081 216 21 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGACTATATCAAATTATGTCTGCA 23470851 23471021 23470871 23470872 23470872 upstr_intron -34 -0.6111111 TGCAGACATAATTTGATATAGTCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 155 523 1 0.9918944 0.9959472 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.09373745 0.9947086 0.9105192 NA 0.08542797 NA FALSE NA 0 -0.018 rs1028587 upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA AAT G,G 0.77 14:23470872 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 intron_variant 0.074931 0.07052 0.00372 0.256391 0.4916354 0.0530327 6.844175e-07 FALSE 0.76476 ENSE00001802440_005 ENSE00001802440 005 14 23940061 23940230 + 54 72 44 T A 23940082 217 22 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGTTTATATCAAATTATGTCTGCA 23470851 23471021 23470872 23470873 23470873 upstr_intron -33 -0.5925926 TGCAGACATAATTTGATATAAACTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 3569 686 0.997767 0.9929287 0.9953479 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07488553 0.09477175 0.9947086 0.9105192 NA 0.08482864 NA FALSE NA 0 0.311 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA ATC T,A 1.288e-05 14:23470873 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 intron_variant 0.405493 0.14204 0.17485 0.256391 0.5667105 0.0530327 6.844175e-07 FALSE NA ENSE00001802440_006 ENSE00001802440 006 14 23940061 23940230 + 54 72 44 A G 23940086 218 26 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGACTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470876 23470877 23470877 upstr_intron -29 -0.5185185 TGCAGACATAATTTGATATAATCTAGTCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 1000 141 0.9991326 0.9977804 0.9984565 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07625104 0.09962347 0.9947086 0.9105192 NA 0.08793725 NA FALSE NA 0 -0.879 rs1028588 upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 rs1028588 1 A:0.1124 G:0.9856 G:0.9121 NA G:0.746 G:0.9284 G:0.8415 AAT G,G 0.899 14:23470877 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 intron_variant 0.077906 0.06074 0.00033 0.256391 0.4900805 0.0536366 6.844175e-07 FALSE 0.895065 ENSE00001802440_007 ENSE00001802440 007 14 23940061 23940230 + 54 72 44 C G 23940090 219 30 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAACTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470880 23470881 23470881 upstr_intron -25 -0.4444444 TGCAGACATAATTTGATATAATCTAATCAGTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 3376 191 0.9142927 0.9888569 0.9515748 0.9973934 0.9920239 0.9228815 0.8981569 NA NA -0.008588805 0.09069995 0.9947086 0.9105192 NA 0.04105557 NA FALSE NA 0 -0.628 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 rs3215682&rs201472091 1 C:0.2997 -:0.6172 -:0.6916 NA -:0.6389 -:0.8489 -:0.729 ACT C,G 0.0001382 14:23470881 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 intron_variant -0.091017 0.05415 0.0043 0.256391 0.5610295 0.0514441 6.844175e-07 FALSE NA ENSE00001802440_008 ENSE00001802440 008 14 23940061 23940230 + 54 72 44 A T 23940098 220 38 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAAAAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470888 23470889 23470889 upstr_intron -17 -0.2962963 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTTTTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant 39 16 0.999787 1 0.9998935 NA NA NA NA NA 0.9973934 0.9920239 0.9228815 0.8981569 0.002393587 0.007976131 NA NA 0.9947086 0.9105192 0.005184859 NA NA NA FALSE 0 -1.806 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA TAT A,T 8.236e-06 14:23470889 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 intron_variant 0.3041 0.14392 0.02299 0.256391 0.6636203 0.0650616 6.844175e-07 FALSE NA ENSE00001802440_010 ENSE00001802440 010 14 23940061 23940230 + 54 72 44 A G 23940108 222 48 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAACTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470898 23470899 23470899 upstr_intron -7 -0.1111111 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAGTTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 14 254 1 1 1 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.1018431 0.9947086 0.9105192 NA 0.08948077 NA FALSE NA 0.836 1.166 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA AAT A,G 8.236e-06 14:23470899 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 splice_region_variant 1.652493 0.84787 0.60792 0.256391 0.8118463 0.831183 6.844175e-07 FALSE 4.86841e-06 ENSE00001802440_011 ENSE00001802440 011 14 23940061 23940230 + 54 72 44 A G 23940113 223 53 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCCGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470903 23470904 23470904 upstr_intron -2 -0.01851852 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCGGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant 36 67 0 0 0 NA NA NA NA NA 0.9973934 0.9920239 0.9228815 0.8981569 -0.9973934 -0.9920239 NA NA 0.9947086 0.9105192 -0.9947086 NA NA NA TRUE 1 5.426 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA CAG A,G 8.236e-06 14:23470904 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 splice_acceptor_variant 4.562019 0.98377 0.96767 0.256391 0.9930604 0.966276 6.844175e-07 FALSE NA ENSE00001802440_013 ENSE00001802440 013 14 23940061 23940230 + 54 72 44 T G 23940119 225 59 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCCTCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470909 23470910 23470910 exon 5 0.06944444 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGAGGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 440 2647 1 0.9886069 0.9943034 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.09044992 0.9947086 0.9105192 NA 0.0837842 NA FALSE NA 1 1.663 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA ATG T,G 8.236e-06 14:23470910 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 start_lost 1.550391 0.96601 0.88491 0.732398 0.9748429 0 6.844175e-07 FALSE NA ENSE00001802440_017 ENSE00001802440 017 14 23940061 23940230 + 54 72 44 T G 23940159 229 99 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGCACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470949 23470950 23470950 exon -28 0.625 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTGCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant 21 15 1 0.9981839 0.9990919 866 1059 0.9993328 0.9914503 0.9953915 0.9973934 0.9920239 0.9228815 0.8981569 0.002606585 0.006160013 0.07645128 0.09329334 0.9947086 0.9105192 0.004383299 0.08487231 0.08048901 FALSE FALSE 1 1.067 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA TTC T,G 8.236e-06 14:23470950 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 synonymous_variant 1.277124 0.95275 0.7761 0.732398 0.7622527 0 6.844175e-07 FALSE 5.08569e-06 ENSE00001802440_018 ENSE00001802440 018 14 23940061 23940230 + 54 72 44 G A 23940163 230 103 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGTTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470953 23470954 23470954 exon -24 0.6805556 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAACTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 172 980 0.9931019 0.9999612 0.9965316 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07022043 0.1018042 0.9947086 0.9105192 NA 0.08601233 NA FALSE NA 1 2.726 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA AGC G,A 8.236e-06 14:23470954 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 missense_variant 2.448683 0.95801 0.78985 0.732398 0.9949745 0 6.844175e-07 FALSE NA ENSE00001802440_020 ENSE00001802440 020 14 23940061 23940230 + 54 72 44 A G 23940173 232 113 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGACAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470963 23470964 23470964 exon -14 0.8194444 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTGTCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant 19 14 0.9990524 1 0.9995262 291 856 0.9971368 0.9288431 0.96299 0.9973934 0.9920239 0.9228815 0.8981569 0.001659031 0.007976131 0.07425526 0.03068619 0.9947086 0.9105192 0.004817581 0.05247072 0.04765314 FALSE FALSE 0.597 0.098 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 rs576785037 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAT A,G 4.942e-05 14:23470964 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 missense_variant 2.538162 0.95619 0.73877 0.732398 0.9703903 0 6.844175e-07 FALSE 2.59832e-05 ENSE00001802440_021 ENSE00001802440 021 14 23940061 23940230 + 54 72 44 T C 23940174 233 114 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGGTAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470964 23470965 23470965 exon -13 0.8333333 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTACCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant 15 78 1 0.9874279 0.993714 NA NA NA NA NA 0.9973934 0.9920239 0.9228815 0.8981569 0.002606585 -0.004595925 NA NA 0.9947086 0.9105192 -0.0009946701 NA NA NA FALSE 0.717 0.637 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA ATC T,C 8.236e-06 14:23470965 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 synonymous_variant 0.139882 0.94156 0.54653 0.732398 0.5689959 0 6.844175e-07 FALSE 5.19929e-06 ENSE00001802440_022 ENSE00001802440 022 14 23940061 23940230 + 54 72 44 C T 23940175 234 115 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGAATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470965 23470966 23470966 exon -12 0.8472222 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATTCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 60 2337 0.9341405 0.8246917 0.8794161 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.01125897 -0.07346525 0.9947086 0.9105192 NA -0.03110314 NA FALSE NA 0.9 0.919 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA TCC C,T 8.236e-06 14:23470966 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 missense_variant 1.407502 0.95767 0.64105 0.732398 0.3612358 0 6.844175e-07 FALSE 1.57139e-05 ENSE00001802440_023 ENSE00001802440 023 14 23940061 23940230 + 54 72 44 T C 23940188 235 128 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTGCCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470978 23470979 23470979 downstr_intron 2 1.046512 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGCAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant 34 14 0.9804234 0.9914205 0.985922 506 92 0.9978907 1 0.9989453 0.9973934 0.9920239 0.9228815 0.8981569 -0.01697 -0.0006033429 0.07500917 0.1018431 0.9947086 0.9105192 -0.008786669 0.08842612 0.09721279 FALSE FALSE 1 4.723 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA GTA T,C 8.237e-06 14:23470979 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 splice_donor_variant 4.634157 0.97633 0.93058 0.110006 0.9910622 0.866041 6.844175e-07 FALSE NA ENSE00001802440_024 ENSE00001802440 024 14 23940061 23940230 + 54 72 44 T G 23940193 236 133 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACCTCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470983 23470984 23470984 downstr_intron 7 1.162791 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGAGGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 98 2111 1 0.9994883 0.9997442 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.1013314 0.9947086 0.9105192 NA 0.08922495 NA FALSE NA 0 -0.094 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA ATG T,G 8.236e-06 14:23470984 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 splice_region_variant 1.254208 0.13471 0.06852 0.110006 0.7434352 0.0631926 6.844175e-07 FALSE 5.42282e-06 ENSE00001802440_025 ENSE00001802440 025 14 23940061 23940230 + 54 72 44 G A 23940194 237 134 AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTATATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23470984 23470985 23470985 downstr_intron 8 1.186047 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATATACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 77 47 1 1 1 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.1018431 0.9947086 0.9105192 NA 0.08948077 NA FALSE NA 0 -0.439 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA TGT G,A 8.237e-06 14:23470985 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 splice_region_variant 1.137848 0.1159 0.00728 0.110006 0.6084079 0.0549827 6.844175e-07 FALSE 5.56372e-06 ENSE00001802440_027 ENSE00001802440 027 14 23940061 23940230 + 54 72 44 G A 23940218 239 158 AGAACATTAAGTTAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23471008 23471009 23471009 downstr_intron 32 1.744186 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTAACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 292 242 1 1 1 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.1018431 0.9947086 0.9105192 NA 0.08948077 NA FALSE NA 0 -0.623 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 1 NA TGA G,A 8.237e-06 14:23471009 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 non_coding_transcript_exon_variant 0.17711 0.1332 0.04299 0.110006 0.6475805 0.054902 6.844175e-07 FALSE 6.05063e-06 ENSE00001802440_028 ENSE00001802440 028 14 23940061 23940230 + 54 72 44 C A 23940220 240 160 AGAACATTAATTCAGGGGATGCTTACTGTTTGAGTACATCTTACCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACCTGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 23471010 23471011 23471011 downstr_intron 34 1.790698 TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGAATTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT mutant NA NA NA NA NA 1092 324 1 1 1 0.9973934 0.9920239 0.9228815 0.8981569 NA NA 0.07711848 0.1018431 0.9947086 0.9105192 NA 0.08948077 NA FALSE NA 0 -0.565 . upstream_gene_variant MODIFIER NGDN HGNC 20271 ENST00000556022 rs199660016 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 ACT C,A 0.0002224 14:23471011 NGDN HGNC Symbol protein_coding 40174 ENSG00000129460 ENSE00003567859 non_coding_transcript_exon_variant 0.435029 0.17796 0.05551 0.110006 0.6476892 0.054902 6.844175e-07 FALSE 0.000366157 ENSE00001802440_BRK ENSE00001802440 BRK 14 23940061 23940230 + 54 72 44 A,G; T,T NA NA NA AGAACATTAAGTCAGGGGATGCTTACTGTTTGAGTACATCTTGGCTTTTCTGTAGGATAGGCACCAGCTTGAACTTTTTGTGTCAGTGATTTCACTTGTGCAGTTACAGCCATCACAAGAAATTAGCCCAAATAAAACAAGTGATTAGATTATATCAAATTATGTCTGCA 23470851 23471021 NA NA NA NA NA NA TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCTTGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGCCAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT TGCAGACATAATTTGATATAATCTAATCACTTGTTTTATTTGGGCTAATTTCAGGTGATGGCTGTAACTGCACAAGTGAAATCACTGACACAAAAAGTTCAAGCTGGTGCCTATCCTACAGAAAAGGTAAGATGTACTCAAACAGTAAGCATCCCCTGACTTAATGTTCT control 154 80 0 0 0 688 1685 0 0.01244658 0.006223288 0.9973934 0.9920239 0.9228815 0.8981569 -0.9973934 -0.9920239 -0.9228815 -0.8857104 0.9947086 0.9105192 -0.9947086 -0.9042959 0.0904127 TRUE TRUE NA NA NA NA NA NGDN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NGDN NA NA NA ENSG00000129460 ENSE00003567859 NA NA NA NA NA NA NA 6.844175e-07 FALSE NA ENSE00001803532_000 ENSE00001803532 000 3 50380941 50381110 - 53 54 63 NA NA NA NA NA CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG 50343509 50343679 NA NA NA NA NA NA CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG CGGGGAGGAGAGCTGGTAGCCCCTATCCCTTCCTCAGGCCCTGTCCTTCTCTTTATCTGACAGGTGCACCACGAGGCCTCCATCATCAACCTCTTGGAGACAGTGTTCTTCCACAAGGTGAGGGACTATCTCTGCCCATGGGCCACAGTTCCGGGTCAGGGCCTGGCAGG natural 15 29 0.9994233 0.9878079 0.9936156 1861 473 0.9789762 0.9528275 0.9659019 0.9994233 0.9878079 0.9789762 0.9528275 0 0 0 0 0.9936156 0.9659019 0 0 0 FALSE FALSE NA NA NA NA NA NPRL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMYND10 NA NA NA ENSG00000004838 ENSE00003609236 NA NA NA NA NA NA NA 3.602399e-07 FALSE NA ENSE00001804366_000 ENSE00001804366 000 11 57327778 57327947 - 32 96 42 NA NA NA NA NA GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 NA NA NA NA NA NA GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT natural 95 92 0.9883709 0.9632236 0.9757973 3755 1792 0.9206336 0.8692212 0.8949274 0.9883709 0.9632236 0.9206336 0.8692212 0 0 0 0 0.9757973 0.8949274 0 0 0 FALSE FALSE NA NA NA NA NA UBE2L6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE2L6 NA NA NA ENSG00000156587 ENSE00003678270 NA NA NA NA NA NA NA 0.01401033 FALSE NA ENSE00001804366_001 ENSE00001804366 001 11 57327778 57327947 - 32 96 42 T C 57327790 1239 158 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCGTGGCTTTGGATT 57560304 57560474 57560316 57560317 57560317 downstr_intron 20 1.645161 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCGTGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 518 17 0.9993627 0.9977295 0.9985461 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07872905 0.1285083 0.9757973 0.8949274 NA 0.1036187 NA FALSE NA 0 -4.391 . intron_variant MODIFIER UBE2L6 HGNC 12490 ENST00000287156 2/3 rs369971778 1 NA C:0 C:0.0002 ATG T,C 0.0001318 11:57560317 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 intron_variant -0.60099 0.10455 0.01279 0.359288 0.3270277 0.129278 0.01401033 FALSE 8.53069e-05 ENSE00001804366_003 ENSE00001804366 003 11 57327778 57327947 - 32 96 42 T C 57327793 1241 155 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGGCCATGGCTTTGGATT 57560304 57560474 57560319 57560320 57560320 downstr_intron 17 1.548387 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGGCCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 391 442 0.9997893 0.9992837 0.9995365 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07915567 0.1300625 0.9757973 0.8949274 NA 0.1046091 NA FALSE NA 0 -0.648 . intron_variant MODIFIER UBE2L6 HGNC 12490 ENST00000287156 2/3 1 NA GTC T,C 8.236e-06 11:57560320 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 intron_variant 0.187917 0.21502 0.05651 0.359288 0.4602265 0.129278 0.01401033 FALSE 4.06187e-06 ENSE00001804366_006 ENSE00001804366 006 11 57327778 57327947 - 32 96 42 C G 57327809 1244 139 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCCTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560335 57560336 57560336 downstr_intron 1 1.032258 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCCTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant 151 31 0 0 0 NA NA NA NA NA 0.9883709 0.9632236 0.9206336 0.8692212 -0.9883709 -0.9632236 NA NA 0.9757973 0.8949274 -0.9757973 NA NA NA TRUE 0.999 5.603 . splice_donor_variant HIGH UBE2L6 HGNC 12490 ENST00000287156 2/3 1 NA HC ACG C,G 1.647e-05 11:57560336 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 splice_donor_variant 5.211943 0.97857 0.93414 0.359288 0.9938412 0.978562 0.01401033 FALSE 3.65509e-05 ENSE00001804366_007 ENSE00001804366 007 11 57327778 57327947 - 32 96 42 G A 57327810 1245 138 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCTGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560336 57560337 57560337 exon -1 1 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCTGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 105 349 0.9931406 0.9945227 0.9938317 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07250696 0.1253015 0.9757973 0.8949274 NA 0.09890425 NA FALSE NA 0 -2.995 . splice_region_variant&synonymous_variant LOW UBE2L6 HGNC 12490 ENST00000287156 2/4 1 NA CGG G,A 1.647e-05 11:57560337 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 splice_region_variant 0.153864 0.14505 0.01709 0.732398 0.542322 0 0.01401033 FALSE 8.12216e-06 ENSE00001804366_009 ENSE00001804366 009 11 57327778 57327947 - 32 96 42 G A 57327825 1247 123 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCATGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560351 57560352 57560352 exon -16 0.84375 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCATGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 59 426 1 0.8721223 0.9360611 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07936637 0.002901068 0.9757973 0.8949274 NA 0.04113372 NA FALSE NA 0 -3.057 rs1802110 synonymous_variant LOW UBE2L6 HGNC 12490 ENST00000287156 2/4 rs1802110 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0008 CGT G,A 0.0003953 11:57560352 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 synonymous_variant 0.53417 0.17689 0.0269 0.732398 0.5946725 0 0.01401033 FALSE 0.000446686 ENSE00001804366_010 ENSE00001804366 010 11 57327778 57327947 - 32 96 42 A G 57327840 1248 108 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAACGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560366 57560367 57560367 exon -31 0.6875 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAACGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 66 491 1 0.9951374 0.9975687 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07936637 0.1259162 0.9757973 0.8949274 NA 0.1026413 NA FALSE NA 0.033 -1.169 . synonymous_variant LOW UBE2L6 HGNC 12490 ENST00000287156 2/4 1 NA CAT A,G 2.471e-05 11:57560367 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 synonymous_variant 0.015569 0.23277 0.01442 0.732398 0.3740044 0 0.01401033 FALSE 8.12143e-06 ENSE00001804366_011 ENSE00001804366 011 11 57327778 57327947 - 32 96 42 T C 57327841 1249 107 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAGTGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560367 57560368 57560368 exon -32 0.6770833 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAGTGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 252 82 1 0.9980664 0.9990332 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07936637 0.1288452 0.9757973 0.8949274 NA 0.1041058 NA FALSE NA 0.986 3.179 . missense_variant MODERATE UBE2L6 HGNC 12490 ENST00000287156 2/4 1 tolerated(0.08) benign(0.085) NA ATT T,C 3.295e-05 11:57560368 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant 1.943684 0.9497 0.83452 0.732398 0.989166 0 0.01401033 FALSE 4.06072e-05 ENSE00001804366_012 ENSE00001804366 012 11 57327778 57327947 - 32 96 42 T C 57327842 1250 106 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCGATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560368 57560369 57560369 exon -33 0.6666667 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCGATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 312 553 1 1 1 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07936637 0.1307788 0.9757973 0.8949274 NA 0.1050726 NA FALSE NA 0.987 1.787 . missense_variant MODERATE UBE2L6 HGNC 12490 ENST00000287156 2/4 1 tolerated(0.11) benign(0.031) NA TTG T,C 8.236e-06 11:57560369 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant 1.840579 0.90353 0.67164 0.732398 0.9895197 0 0.01401033 FALSE 4.06075e-06 ENSE00001804366_014 ENSE00001804366 014 11 57327778 57327947 - 32 96 42 G T 57327860 1252 88 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACATGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560386 57560387 57560387 exon 46 0.4791667 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACATGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 334 359 1 1 1 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07936637 0.1307788 0.9757973 0.8949274 NA 0.1050726 NA FALSE NA 1 3.798 . missense_variant MODERATE UBE2L6 HGNC 12490 ENST00000287156 2/4 1 deleterious(0.04) probably_damaging(0.999) NA AGG G,T 8.237e-06 11:57560387 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant 4.521745 0.94129 0.57244 0.732398 0.9957891 0 0.01401033 FALSE 4.06078e-06 ENSE00001804366_015 ENSE00001804366 015 11 57327778 57327947 - 32 96 42 C T 57327864 1253 84 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGAAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560390 57560391 57560391 exon 42 0.4375 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGAAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 169 280 1 1 1 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07936637 0.1307788 0.9757973 0.8949274 NA 0.1050726 NA FALSE NA 0.005 0.427 . synonymous_variant LOW UBE2L6 HGNC 12490 ENST00000287156 2/4 rs529974290&COSM1722900 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCC C,T 4.118e-05 11:57560391 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 synonymous_variant 1.524808 0.93357 0.23454 0.732398 0.4939191 0 0.01401033 FALSE 2.03041e-05 ENSE00001804366_016 ENSE00001804366 016 11 57327778 57327947 - 32 96 42 C T 57327865 1254 83 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCAGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560391 57560392 57560392 exon 41 0.4270833 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCAGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant 20 20 0.9995746 1 0.9997873 NA NA NA NA NA 0.9883709 0.9632236 0.9206336 0.8692212 0.01120367 0.03677644 NA NA 0.9757973 0.8949274 0.02399005 NA NA NA FALSE 0.016 1.138 . missense_variant MODERATE UBE2L6 HGNC 12490 ENST00000287156 2/4 1 tolerated(0.08) benign(0.112) NA CCG C,T 1.647e-05 11:57560392 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant 3.251717 0.94441 0.29546 0.732398 0.9975174 0 0.01401033 FALSE 1.21826e-05 ENSE00001804366_017 ENSE00001804366 017 11 57327778 57327947 - 32 96 42 G A 57327866 1255 82 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGTGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560392 57560393 57560393 exon 40 0.4166667 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGTGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 281 1159 0.9962801 0.9988091 0.9975446 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07564649 0.1295879 0.9757973 0.8949274 NA 0.1026172 NA FALSE NA 0.022 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:57560393 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant 6.122981 0.93791 0.29043 0.732398 0.9990453 0 0.01401033 FALSE 8.12183e-06 ENSE00001804366_018 ENSE00001804366 018 11 57327778 57327947 - 32 96 42 G T 57327866 1256 82 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGAGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560392 57560393 57560393 exon 40 0.4166667 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGAGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 16 1069 1 1 1 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07936637 0.1307788 0.9757973 0.8949274 NA 0.1050726 NA FALSE NA 0.022 0.677 NA NA NA UBE2L6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE2L6 NA NA NA ENSG00000156587 ENSE00003678270 synonymous_variant 0.931291 0.9357 0.24718 0.732398 0.5229653 0 0.01401033 FALSE 1.62437e-05 ENSE00001804366_019 ENSE00001804366 019 11 57327778 57327947 - 32 96 42 T C 57327873 1257 75 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCGTACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560399 57560400 57560400 exon 33 0.34375 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCGTACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 266 287 0.9900581 1 0.995029 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.06942443 0.1307788 0.9757973 0.8949274 NA 0.1001016 NA FALSE NA 0 -5.789 . synonymous_variant LOW UBE2L6 HGNC 12490 ENST00000287156 2/4 1 NA ATG T,C 8.236e-06 11:57560400 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 synonymous_variant -0.666307 0.12428 0.01279 0.732398 0.2569343 0 0.01401033 FALSE 4.06095e-06 ENSE00001804366_020 ENSE00001804366 020 11 57327778 57327947 - 32 96 42 G A 57327874 1258 74 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCTATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560400 57560401 57560401 exon 32 0.3333333 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCTATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 920 197 0.9987407 0.9998066 0.9992737 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.0781071 0.1305854 0.9757973 0.8949274 NA 0.1043462 NA FALSE NA 0 -0.856 . missense_variant MODERATE UBE2L6 HGNC 12490 ENST00000287156 2/4 rs549126873 1 deleterious(0.03) benign(0.315) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGG G,A 9.06e-05 11:57560401 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant 0.109493 0.25909 0.06553 0.732398 0.7672956 0 0.01401033 FALSE 6.90372e-05 ENSE00001804366_022 ENSE00001804366 022 11 57327778 57327947 - 32 96 42 T C 57327884 1260 64 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGGAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560410 57560411 57560411 exon 22 0.2291667 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGGAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 1796 207 0.9946992 0.9992352 0.9969672 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07406553 0.130014 0.9757973 0.8949274 NA 0.1020398 NA FALSE NA 0 -3.605 rs143103984 missense_variant MODERATE UBE2L6 HGNC 12490 ENST00000287156 2/4 rs143103984 1 tolerated(0.97) benign(0.001) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTC T,C 8.236e-06 11:57560411 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant -2.92231 0.16195 0.02312 0.732398 0.1797166 0 0.01401033 FALSE 8.12282e-06 ENSE00001804366_023 ENSE00001804366 023 11 57327778 57327947 - 32 96 42 G C 57327893 1261 55 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATGTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560419 57560420 57560420 exon 13 0.1354167 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATGTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant 12 41 0.9853702 0.9887026 0.9870364 204 1200 0.9747892 0.9973857 0.9860874 0.9883709 0.9632236 0.9206336 0.8692212 -0.003000693 0.02547907 0.05415554 0.1281645 0.9757973 0.8949274 0.01123919 0.09116004 0.07992085 FALSE FALSE 0.746 1.194 . missense_variant MODERATE UBE2L6 HGNC 12490 ENST00000287156 2/4 rs538346823 1 deleterious(0.04) possibly_damaging(0.466) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AGA G,C 8.236e-06 11:57560420 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant 4.663716 0.86927 0.54685 0.732398 0.9958144 0 0.01401033 FALSE 4.06157e-06 ENSE00001804366_024 ENSE00001804366 024 11 57327778 57327947 - 32 96 42 C A 57327896 1262 52 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGTATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560422 57560423 57560423 exon 10 0.1041667 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGTATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant 21 11 0.9951726 0.9971657 0.9961691 1893 129 0.9989299 0.9954484 0.9971891 0.9883709 0.9632236 0.9206336 0.8692212 0.006801641 0.03394215 0.07829622 0.1262272 0.9757973 0.8949274 0.02037189 0.1022617 0.08188982 FALSE FALSE 0.001 1.251 . missense_variant MODERATE UBE2L6 HGNC 12490 ENST00000287156 2/4 1 deleterious(0) probably_damaging(0.976) NA TCC C,A 1.647e-05 11:57560423 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 missense_variant 6.011578 0.55632 0.27484 0.732398 0.9922826 0 0.01401033 FALSE 1.21859e-05 ENSE00001804366_025 ENSE00001804366 025 11 57327778 57327947 - 32 96 42 C T 57327897 1263 51 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAAGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560423 57560424 57560424 exon 9 0.09375 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAAGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant 19 19 1 1 1 NA NA NA NA NA 0.9883709 0.9632236 0.9206336 0.8692212 0.01162906 0.03677644 NA NA 0.9757973 0.8949274 0.02420275 NA NA NA FALSE 0 -1.556 . synonymous_variant LOW UBE2L6 HGNC 12490 ENST00000287156 2/4 1 NA CCT C,T 8.236e-06 11:57560424 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 synonymous_variant 1.922004 0.3979 0.04747 0.732398 0.4898746 0 0.01401033 FALSE 1.21854e-05 ENSE00001804366_027 ENSE00001804366 027 11 57327778 57327947 - 32 96 42 G A 57327914 1265 34 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTTCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560440 57560441 57560441 upstr_intron -9 -0.1904762 GGAGGACTAGGCCAACTGCCCACTCACTTGTGTTCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 1498 272 0.997208 0.9988728 0.9980404 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.07657432 0.1296516 0.9757973 0.8949274 NA 0.103113 NA FALSE NA 0 -0.134 . intron_variant MODIFIER UBE2L6 HGNC 12490 ENST00000287156 1/3 1 NA GGA G,A 8.236e-06 11:57560441 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 non_coding_transcript_exon_variant -0.044449 0.25897 0.02067 0.106106 0.4030633 0.0755731 0.01401033 FALSE 4.06583e-06 ENSE00001804366_028 ENSE00001804366 028 11 57327778 57327947 - 32 96 42 G A 57327929 1266 19 GGAGGACTAGGCCAACTGTCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560455 57560456 57560456 upstr_intron -24 -0.547619 GGAGGACTAGGCCAACTGTCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant NA NA NA NA NA 262 343 0.9878234 0.9916084 0.9897159 0.9883709 0.9632236 0.9206336 0.8692212 NA NA 0.06718974 0.1223872 0.9757973 0.8949274 NA 0.09478845 NA FALSE NA 0 -0.597 . intron_variant MODIFIER UBE2L6 HGNC 12490 ENST00000287156 1/3 1 NA GGC G,A 1.647e-05 11:57560456 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 non_coding_transcript_exon_variant 0.615331 0.27722 0.02817 0.106106 0.815238 0.0663503 0.01401033 FALSE 8.14737e-06 ENSE00001804366_029 ENSE00001804366 029 11 57327778 57327947 - 32 96 42 C T 57327930 1267 18 GGAGGACTAGGCCAACTACCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 57560456 57560457 57560457 upstr_intron -25 -0.5714286 GGAGGACTAGGCCAACTACCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT mutant 10 20 0.966328 0.9015273 0.9339276 35 134 1 1 1 0.9883709 0.9632236 0.9206336 0.8692212 -0.02204296 -0.0616963 0.07936637 0.1307788 0.9757973 0.8949274 -0.04186963 0.1050726 0.1469422 FALSE FALSE 0 0.272 . intron_variant MODIFIER UBE2L6 HGNC 12490 ENST00000287156 1/3 rs199682868 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCA C,T 2.471e-05 11:57560457 UBE2L6 HGNC Symbol protein_coding 16628 ENSG00000156587 ENSE00003678270 non_coding_transcript_exon_variant 0.735002 0.32334 0.14327 0.106106 0.8414975 0.0663503 0.01401033 FALSE 2.44479e-05 ENSE00001804366_BRK ENSE00001804366 BRK 11 57327778 57327947 - 32 96 42 A,G; T,T NA NA NA GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCTTGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCCCGAGTATCCATGGGGACCATGGCTTTGGATT 57560304 57560474 NA NA NA NA NA NA GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCTTGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCCCGAGTATCCATGGGGACCATGGCTTTGGATT GGAGGACTAGGCCAACTGCCCACTCACTTGTGTCCCCTGCAGGAGCTGGAGGATCTTCAGAAGAAGCCTCCCCCATACCTGCGGAACCTGTCCAGCGATGATGCCAATGTCCTGGTGTGGCACGCTCTCCTCCTACCCGTGAGTATCCATGGGGACCATGGCTTTGGATT control 92 82 0 0.007952045 0.003976023 110 767 0 0.007181451 0.003590726 0.9883709 0.9632236 0.9206336 0.8692212 -0.9883709 -0.9552715 -0.9206336 -0.8620397 0.9757973 0.8949274 -0.9718212 -0.8913367 0.08048455 TRUE TRUE NA NA NA NA NA UBE2L6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE2L6 NA NA NA ENSG00000156587 ENSE00003678270 NA NA NA NA NA NA NA 0.01401033 FALSE NA ENSE00001804656_000 ENSE00001804656 000 20 50235458 50235627 - 35 90 45 NA NA NA NA NA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 NA NA NA NA NA NA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA natural NA NA NA NA NA 119 57 0.976378 0.9877791 0.9820786 NA NA 0.976378 0.9877791 NA NA 0 0 NA 0.9820786 NA 0 NA FALSE NA NA NA NA NA NA ATP9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP9A NA NA NA ENSG00000054793 ENSE00001804656 NA NA NA NA NA NA NA 0.9999806 TRUE NA ENSE00001804656_002 ENSE00001804656 002 20 50235458 50235627 - 35 90 45 C G 50235474 1692 154 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTCAGAGCCAGTCCTCCCA 51618918 51619088 51618934 51618935 51618935 downstr_intron 19 1.558824 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTCAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 18 1621 1 0.998528 0.999264 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01074884 NA 0.9820786 NA 0.01718542 NA FALSE NA 0 0.128 . intron_variant MODIFIER ATP9A HGNC 13540 ENST00000338821 20/27 1 NA TCA C,G 8.236e-06 20:51618935 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 intron_variant 0.295225 0.21245 0.17482 0.062308 0.5957283 0.0549728 0.9999806 TRUE 4.07345e-06 ENSE00001804656_007 ENSE00001804656 007 20 50235458 50235627 - 35 90 45 G A 50235487 1697 141 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGTTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51618947 51618948 51618948 downstr_intron 6 1.176471 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGTTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 213 201 1 1 1 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01222086 NA 0.9820786 NA 0.01792142 NA FALSE NA 0 -0.502 rs183708173 splice_region_variant&intron_variant LOW ATP9A HGNC 13540 ENST00000338821 20/27 rs183708173 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGC G,A 3.295e-05 20:51618948 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 splice_region_variant 0.156309 0.13847 0.05333 0.062308 0.5544404 0.224924 0.9999806 TRUE 2.44061e-05 ENSE00001804656_009 ENSE00001804656 009 20 50235458 50235627 - 35 90 45 A T 50235497 1699 131 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCAGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51618957 51618958 51618958 exon -5 0.9555556 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCAGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 49 359 1 0.9986099 0.9993049 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01083073 NA 0.9820786 NA 0.01722636 NA FALSE NA 1 8.955 . missense_variant MODERATE ATP9A HGNC 13540 ENST00000338821 20/28 1 deleterious(0) probably_damaging(0.997) NA CAG A,T 1.647e-05 20:51618958 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 missense_variant 6.268302 0.95955 0.95642 0.706548 0.9944881 0 0.9999806 TRUE 8.12949e-06 ENSE00001804656_011 ENSE00001804656 011 20 50235458 50235627 - 35 90 45 C G 50235508 1701 120 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCCGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51618968 51618969 51618969 exon -16 0.8333333 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCCGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 88 234 1 1 1 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01222086 NA 0.9820786 NA 0.01792142 NA FALSE NA 0.033 -0.771 NA NA NA ATP9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:51618969 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 synonymous_variant 1.887247 0.33009 0.1036 0.706548 0.6701273 0 0.9999806 TRUE 1.21884e-05 ENSE00001804656_016 ENSE00001804656 016 20 50235458 50235627 - 35 90 45 C A 50235517 1706 111 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTTGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51618977 51618978 51618978 exon -25 0.7333333 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTTGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 41 188 1 1 1 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01222086 NA 0.9820786 NA 0.01792142 NA FALSE NA 0.913 0.072 . synonymous_variant LOW ATP9A HGNC 13540 ENST00000338821 20/28 COSM578229 1 NA CCA C,A 8.236e-06 20:51618978 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 synonymous_variant 2.03742 0.93195 0.72439 0.706548 0.7071102 0 0.9999806 TRUE 4.0622e-06 ENSE00001804656_017 ENSE00001804656 017 20 50235458 50235627 - 35 90 45 G A 50235519 1707 109 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCTTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51618979 51618980 51618980 exon -27 0.7111111 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCTTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 23 48 1 1 1 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01222086 NA 0.9820786 NA 0.01792142 NA FALSE NA 1 3.883 rs141750418 synonymous_variant LOW ATP9A HGNC 13540 ENST00000338821 20/28 rs141750418 1 A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 AGG G,A 0.0001812 20:51618980 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 synonymous_variant 0.856396 0.94037 0.8754 0.706548 0.7192164 0 0.9999806 TRUE 0.000203087 ENSE00001804656_020 ENSE00001804656 020 20 50235458 50235627 - 35 90 45 C T 50235539 1710 89 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCACAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51618999 51619000 51619000 exon 44 0.4888889 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCACAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 392 245 0.9947981 0.9877529 0.9912755 NA NA 0.976378 0.9877791 NA NA 0.01842009 -2.621509e-05 NA 0.9820786 NA 0.009196936 NA FALSE NA 1 7.48 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:51619000 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 missense_variant 6.077027 0.96623 0.9409 0.743674 0.9994892 0 0.9999806 TRUE 2.84322e-05 ENSE00001804656_024 ENSE00001804656 024 20 50235458 50235627 - 35 90 45 G A 50235547 1714 81 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAATGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51619007 51619008 51619008 exon 36 0.4 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAATGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 126 128 1 0.9988018 0.9994009 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01102264 NA 0.9820786 NA 0.01732232 NA FALSE NA 0.057 -0.646 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:51619008 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 synonymous_variant 1.14945 0.80147 0.19584 0.743674 0.7243929 0 0.9999806 TRUE 3.65574e-05 ENSE00001804656_025 ENSE00001804656 025 20 50235458 50235627 - 35 90 45 G T 50235547 1715 81 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAAAGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51619007 51619008 51619008 exon 36 0.4 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAAAGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 298 493 0.9737958 1 0.9868979 NA NA 0.976378 0.9877791 NA NA -0.002582215 0.01222086 NA 0.9820786 NA 0.00481932 NA FALSE NA 0.057 -0.646 NA NA NA ATP9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP9A NA NA NA ENSG00000054793 ENSE00001804656 missense_variant 2.228737 0.81266 0.31169 0.743674 0.9952548 0 0.9999806 TRUE 4.06194e-06 ENSE00001804656_028 ENSE00001804656 028 20 50235458 50235627 - 35 90 45 C T 50235570 1718 58 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCAGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51619030 51619031 51619031 exon 13 0.1444444 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCAGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 25 93 1 1 1 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01222086 NA 0.9820786 NA 0.01792142 NA FALSE NA 1 4.459 . missense_variant MODERATE ATP9A HGNC 13540 ENST00000338821 20/28 1 tolerated(0.37) benign(0.023) NA CCG C,T 8.236e-06 20:51619031 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 missense_variant 3.810903 0.95146 0.84434 0.743674 0.9982225 0 0.9999806 TRUE 4.06428e-06 ENSE00001804656_029 ENSE00001804656 029 20 50235458 50235627 - 35 90 45 G A 50235571 1719 57 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGTGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51619031 51619032 51619032 exon 12 0.1333333 TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGTGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 211 93 1 1 1 NA NA 0.976378 0.9877791 NA NA 0.02362199 0.01222086 NA 0.9820786 NA 0.01792142 NA FALSE NA 0.01 -0.995 . synonymous_variant LOW ATP9A HGNC 13540 ENST00000338821 20/28 rs562179954 1 A:0.0006 A:0.0008 A:0.0014 NA A:0 A:0.001 A:0 CGC G,A 4.942e-05 20:51619032 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 synonymous_variant 1.788868 0.89374 0.15927 0.743674 0.8737771 0 0.9999806 TRUE 3.65744e-05 ENSE00001804656_037 ENSE00001804656 037 20 50235458 50235627 - 35 90 45 T C 50235614 1727 14 TGTCCGGAGAGCAGTGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA 51618918 51619088 51619074 51619075 51619075 upstr_intron -32 -0.6888889 TGTCCGGAGAGCAGTGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA TGTCCGGAGAGCAATGCCTCCTTCCCCATCTCTGTTCCCTTCCAGGTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGCAGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAGGTGAGCTTGGGGACCCCTGAGAGCCAGTCCTCCCA mutant NA NA NA NA NA 110 658 1 0.9559258 0.9779629 NA NA 0.976378 0.9877791 NA NA 0.02362199 -0.03185336 NA 0.9820786 NA -0.004115685 NA FALSE NA 0 -1.215 . intron_variant MODIFIER ATP9A HGNC 13540 ENST00000338821 19/27 rs374621594 1 NA C:0.0002 C:0 ATT T,C 1.647e-05 20:51619075 ATP9A HGNC Symbol protein_coding 172120 ENSG00000054793 ENSE00001804656 intron_variant 0.401148 0.16798 0.04938 0.099367 0.6865604 0.0564088 0.9999806 TRUE 4.1115e-06 ENSE00001804977_000 ENSE00001804977 000 7 129064659 129064828 + 56 69 45 NA NA NA NA NA CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 NA NA NA NA NA NA CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC natural 23 47 0.9920278 0.9949039 0.9934658 4296 1112 0.9376612 0.9818744 0.9597678 0.9920278 0.9949039 0.9376612 0.9818744 0 0 0 0 0.9934658 0.9597678 0 0 0 FALSE FALSE NA NA NA NA NA AHCYL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AHCYL2 NA NA NA ENSG00000158467 ENSE00001804977 NA NA NA NA NA NA NA 0.9492588 TRUE NA ENSE00001804977_003 ENSE00001804977 003 7 129064659 129064828 + 56 69 45 C T 129064674 2492 16 CTCAAAGGCCAGCGATTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424832 129424833 129424833 upstr_intron -41 -0.7142857 CTCAAAGGCCAGCGATTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 50 26 1 1 1 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01812559 0.9934658 0.9597678 NA 0.0402322 NA FALSE NA 0 -0.348 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA ACT C,T 3.295e-05 7:129424833 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 non_coding_transcript_exon_variant 0.316304 0.14021 0.01023 0.099367 0.629307 0.0493452 0.9492588 TRUE 4.0655e-05 ENSE00001804977_004 ENSE00001804977 004 7 129064659 129064828 + 56 69 45 C A 129064687 2493 29 CTCAAAGGCCAGCGACTTTGTCCTAATCAATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424845 129424846 129424846 upstr_intron -28 -0.4821429 CTCAAAGGCCAGCGACTTTGTCCTAATCAATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 13 591 1 1 1 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01812559 0.9934658 0.9597678 NA 0.0402322 NA FALSE NA 0 0.06 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA CCA C,A 2.471e-05 7:129424846 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 non_coding_transcript_exon_variant 0.335581 0.34824 0.12419 0.099367 0.6356337 0.0857125 0.9492588 TRUE 1.62532e-05 ENSE00001804977_005 ENSE00001804977 005 7 129064659 129064828 + 56 69 45 A G 129064688 2494 30 CTCAAAGGCCAGCGACTTTGTCCTAATCCGTTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424846 129424847 129424847 upstr_intron -27 -0.4642857 CTCAAAGGCCAGCGACTTTGTCCTAATCCGTTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 84 42 1 1 1 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01812559 0.9934658 0.9597678 NA 0.0402322 NA FALSE NA 0 -0.999 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA CAT A,G 8.236e-06 7:129424847 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 non_coding_transcript_exon_variant 0.344206 0.22335 0.0265 0.099367 0.438708 0.0883308 0.9492588 TRUE 4.06316e-06 ENSE00001804977_006 ENSE00001804977 006 7 129064659 129064828 + 56 69 45 G A 129064692 2495 34 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTATGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424850 129424851 129424851 upstr_intron -23 -0.3928571 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTATGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 98 835 1 0.9942367 0.9971184 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01236234 0.9934658 0.9597678 NA 0.03735058 NA FALSE NA 0.003 -0.023 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA TGT G,A 1.647e-05 7:129424851 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 non_coding_transcript_exon_variant 0.37048 0.2468 0.09362 0.099367 0.6830003 0.0493452 0.9492588 TRUE 1.21888e-05 ENSE00001804977_008 ENSE00001804977 008 7 129064659 129064828 + 56 69 45 A G 129064710 2497 52 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCGCTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424868 129424869 129424869 upstr_intron -5 -0.07142857 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCGCTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 95 135 0.9937729 0.996249 0.995011 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.05611176 0.01437459 0.9934658 0.9597678 NA 0.03524318 NA FALSE NA 0 -0.792 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 rs574336046 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAC A,G 2.471e-05 7:129424869 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 splice_region_variant 0.323852 0.22327 0.03297 0.099367 0.5496498 0.112365 0.9492588 TRUE NA ENSE00001804977_009 ENSE00001804977 009 7 129064659 129064828 + 56 69 45 T C 129064712 2498 54 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACCAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424870 129424871 129424871 upstr_intron -3 -0.03571429 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACCAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 255 36 0.9915106 1 0.9957553 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.05384941 0.01812559 0.9934658 0.9597678 NA 0.0359875 NA FALSE NA 0.058 0.126 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA CTA T,C 1.647e-05 7:129424871 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 splice_region_variant 0.765592 0.23991 0.01872 0.156188 0.5525629 0.231623 0.9492588 TRUE 2.03095e-05 ENSE00001804977_010 ENSE00001804977 010 7 129064659 129064828 + 56 69 45 G A 129064719 2499 61 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCACCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424877 129424878 129424878 exon 5 0.07246377 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCACCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 82 266 1 0.984678 0.992339 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.002803572 0.9934658 0.9597678 NA 0.03257119 NA FALSE NA 1 9.777 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA CGC G,A 8.236e-06 7:129424878 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 missense_variant 5.918216 0.99428 0.99761 0.706548 0.9985522 0 0.9492588 TRUE 4.06197e-06 ENSE00001804977_011 ENSE00001804977 011 7 129064659 129064828 + 56 69 45 C T 129064730 2500 72 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACTTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424888 129424889 129424889 exon 16 0.2318841 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACTTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 257 288 1 0.9953768 0.9976884 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01350242 0.9934658 0.9597678 NA 0.03792062 NA FALSE NA 1 4.852 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA CCT C,T 3.295e-05 7:129424889 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 missense_variant 7.208427 0.99411 0.98679 0.706548 0.9989388 0 0.9492588 TRUE 3.24926e-05 ENSE00001804977_014 ENSE00001804977 014 7 129064659 129064828 + 56 69 45 A T 129064753 2503 95 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACTTTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424911 129424912 129424912 exon -31 0.5652174 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACTTTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 26 24 0.9984063 1 0.9992032 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06074515 0.01812559 0.9934658 0.9597678 NA 0.03943537 NA FALSE NA 0.007 -0.928 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 rs369323782 1 NA G:0.0002 G:0 CAT A,T 1.647e-05 7:129424912 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 synonymous_variant -0.313322 0.46934 0.11308 0.706548 0.5845709 0 0.9492588 TRUE 2.43675e-05 ENSE00001804977_015 ENSE00001804977 015 7 129064659 129064828 + 56 69 45 A G 129064766 2504 108 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAGTCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424924 129424925 129424925 exon -18 0.7536232 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAGTCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 299 175 1 1 1 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01812559 0.9934658 0.9597678 NA 0.0402322 NA FALSE NA 1 7.527 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA AAT A,G 1.647e-05 7:129424925 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 missense_variant 1.523788 0.99252 0.98971 0.706548 0.5055428 0 0.9492588 TRUE 8.12242e-06 ENSE00001804977_016 ENSE00001804977 016 7 129064659 129064828 + 56 69 45 T C 129064771 2505 113 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACCGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424929 129424930 129424930 exon -13 0.826087 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACCGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 1004 90 1 1 1 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01812559 0.9934658 0.9597678 NA 0.0402322 NA FALSE NA 0 -2.705 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA CTG T,C 8.236e-06 7:129424930 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 synonymous_variant 0.548821 0.66471 0.08361 0.706548 0.6691271 0 0.9492588 TRUE 4.06121e-06 ENSE00001804977_017 ENSE00001804977 017 7 129064659 129064828 + 56 69 45 T A 129064774 2506 116 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCAACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424932 129424933 129424933 exon -10 0.8695652 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCAACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 254 31 1 1 1 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01812559 0.9934658 0.9597678 NA 0.0402322 NA FALSE NA 0.862 -0.085 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/4 1 NA CTA T,A 8.236e-06 7:129424933 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 synonymous_variant 1.419283 0.96256 0.72792 0.706548 0.656901 0 0.9492588 TRUE 4.06138e-06 ENSE00001804977_022 ENSE00001804977 022 7 129064659 129064828 + 56 69 45 G A 129064798 2511 140 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAATGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424956 129424957 129424957 downstr_intron 15 1.340909 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAATGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 390 16 0.9988334 1 0.9994167 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06117226 0.01812559 0.9934658 0.9597678 NA 0.03964892 NA FALSE NA 0.011 1.4 . intron_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/3 1 NA AGT G,A 8.236e-06 7:129424957 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 intron_variant 0.009114 0.23481 0.16779 0.099367 0.3714283 0.0530569 0.9492588 TRUE 4.06131e-06 ENSE00001804977_024 ENSE00001804977 024 7 129064659 129064828 + 56 69 45 T C 129064804 2513 146 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGACAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424962 129424963 129424963 downstr_intron 21 1.477273 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGACAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 62 689 1 0.9991113 0.9995557 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.06233882 0.01723691 0.9934658 0.9597678 NA 0.03978786 NA FALSE NA 0 -0.385 . intron_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/3 1 NA ATA T,C 8.236e-06 7:129424963 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 intron_variant -0.020256 0.11972 0.00471 0.099367 0.4775739 0.0531358 0.9492588 TRUE 8.12301e-06 ENSE00001804977_025 ENSE00001804977 025 7 129064659 129064828 + 56 69 45 A G 129064808 2514 150 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCGGTAGTCTGGAGAAGGTCCTC 129424817 129424987 129424966 129424967 129424967 downstr_intron 25 1.568182 CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCGGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC mutant NA NA NA NA NA 221 47 0.9951101 0.8 0.8975551 0.9920278 0.9949039 0.9376612 0.9818744 NA NA 0.05744892 -0.1818744 0.9934658 0.9597678 NA -0.06221274 NA FALSE NA 0.001 0.249 . intron_variant&non_coding_transcript_variant MODIFIER AHCYL2 HGNC 22204 ENST00000477028 1/3 1 NA CAG A,G 8.236e-06 7:129424967 AHCYL2 HGNC Symbol protein_coding 205188 ENSG00000158467 ENSE00001804977 intron_variant 0.182642 0.20669 0.15821 0.099367 0.5591582 0.0958021 0.9492588 TRUE 4.06167e-06 ENSE00001804977_BRK ENSE00001804977 BRK 7 129064659 129064828 + 56 69 45 A,G; T,T NA NA NA CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTTTGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGCCAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC 129424817 129424987 NA NA NA NA NA NA CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTTTGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGCCAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC CTCAAAGGCCAGCGACTTTGTCCTAATCCATTTGTGTCTTCACCTTTGATCACTAGGGCCGCCTGCTGAACCTTAGCTGCTCCACAGTGCCTACATTTGTGCTCTCAATCACTGCTACTACTCAGGTAAGGCTTCCAGAGTGGGATAGCAGTAGTCTGGAGAAGGTCCTC control 148 48 0 0 0 671 170 0.02225175 0 0.01112588 0.9920278 0.9949039 0.9376612 0.9818744 -0.9920278 -0.9949039 -0.9154094 -0.9818744 0.9934658 0.9597678 -0.9934658 -0.9486419 0.0448239 TRUE TRUE NA NA NA NA NA AHCYL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AHCYL2 NA NA NA ENSG00000158467 ENSE00001804977 NA NA NA NA NA NA NA 0.9492588 TRUE NA ENSE00001805015_000 ENSE00001805015 000 9 116945239 116945408 + 63 54 53 NA NA NA NA NA CAGAGGCGAGATGGCCCCTGTTTTTTGTCACCTTTTTTTGTTTTTGTTCCTTGTCTCTTTCAGGGTCCTCCTGGGCCTTATGGAAATCCAGGTCTCCCCGGCCCTCCTGGAGCCAAAGTGAGTATTTGCTGGAGATGTGGCCATGGAGTGGGTGCTGGGGTTGGAGCCAT 114182958 114183128 NA NA NA NA NA NA CAGAGGCGAGATGGCCCCTGTTTTTTGTCACCTTTTTTTGTTTTTGTTCCTTGTCTCTTTCAGGGTCCTCCTGGGCCTTATGGAAATCCAGGTCTCCCCGGCCCTCCTGGAGCCAAAGTGAGTATTTGCTGGAGATGTGGCCATGGAGTGGGTGCTGGGGTTGGAGCCAT CAGAGGCGAGATGGCCCCTGTTTTTTGTCACCTTTTTTTGTTTTTGTTCCTTGTCTCTTTCAGGGTCCTCCTGGGCCTTATGGAAATCCAGGTCTCCCCGGCCCTCCTGGAGCCAAAGTGAGTATTTGCTGGAGATGTGGCCATGGAGTGGGTGCTGGGGTTGGAGCCAT natural 107 88 0.9429367 0.9773185 0.9601276 838 1059 0.9916317 0.9986592 0.9951454 0.9429367 0.9773185 0.9916317 0.9986592 0 0 0 0 0.9601276 0.9951454 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00001805015 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00001805015_BRK ENSE00001805015 BRK 9 116945239 116945408 + 63 54 53 A,G; T,T NA NA NA CAGAGGCGAGATGGCCCCTGTTTTTTGTCACCTTTTTTTGTTTTTGTTCCTTGTCTCTTTCTTGGTCCTCCTGGGCCTTATGGAAATCCAGGTCTCCCCGGCCCTCCTGGAGCCAAACCGAGTATTTGCTGGAGATGTGGCCATGGAGTGGGTGCTGGGGTTGGAGCCAT 114182958 114183128 NA NA NA NA NA NA CAGAGGCGAGATGGCCCCTGTTTTTTGTCACCTTTTTTTGTTTTTGTTCCTTGTCTCTTTCTTGGTCCTCCTGGGCCTTATGGAAATCCAGGTCTCCCCGGCCCTCCTGGAGCCAAACCGAGTATTTGCTGGAGATGTGGCCATGGAGTGGGTGCTGGGGTTGGAGCCAT CAGAGGCGAGATGGCCCCTGTTTTTTGTCACCTTTTTTTGTTTTTGTTCCTTGTCTCTTTCAGGGTCCTCCTGGGCCTTATGGAAATCCAGGTCTCCCCGGCCCTCCTGGAGCCAAAGTGAGTATTTGCTGGAGATGTGGCCATGGAGTGGGTGCTGGGGTTGGAGCCAT control 48 67 0 0 0 NA NA NA NA NA 0.9429367 0.9773185 0.9916317 0.9986592 -0.9429367 -0.9773185 NA NA 0.9601276 0.9951454 -0.9601276 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00001805015 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00001805440_000 ENSE00001805440 000 9 131720221 131720390 + 68 45 57 NA NA NA NA NA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 NA NA NA NA NA NA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA natural NA NA NA NA NA 2637 1276 0.9856695 0.9180054 0.9518374 NA NA 0.9856695 0.9180054 NA NA 0 0 NA 0.9518374 NA 0 NA FALSE NA NA NA NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP188 NA NA NA ENSG00000095319 ENSE00003426919 NA NA NA NA NA NA NA 0.9870793 TRUE NA ENSE00001805440_002 ENSE00001805440 002 9 131720221 131720390 + 68 45 57 G A 131720259 2863 39 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGACCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128957979 128957980 128957980 upstr_intron -30 -0.4264706 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGACCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 66 59 1 0.9973099 0.998655 NA NA 0.9856695 0.9180054 NA NA 0.01433051 0.07930453 NA 0.9518374 NA 0.04681752 NA FALSE NA 0 -0.266 rs148922693 downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 rs148922693 1 NA A:0.0009 A:0 GGC G,A 9.061e-05 9:128957980 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 intron_variant 0.132767 0.16074 0.04059 0.359288 0.2539176 0.0472273 0.9870793 TRUE 5.80243e-05 ENSE00001805440_003 ENSE00001805440 003 9 131720221 131720390 + 68 45 57 T G 131720269 2864 49 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACGGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128957989 128957990 128957990 upstr_intron -20 -0.2794118 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACGGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 185 94 1 1 1 NA NA 0.9856695 0.9180054 NA NA 0.01433051 0.08199461 NA 0.9518374 NA 0.04816256 NA FALSE NA 0 1.175 NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:128957990 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 intron_variant 0.875304 0.2496 0.36963 0.359288 0.7906598 0.0464886 0.9870793 TRUE 4.1724e-06 ENSE00001805440_005 ENSE00001805440 005 9 131720221 131720390 + 68 45 57 A T 131720294 2866 74 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTTCTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958014 128958015 128958015 exon 6 0.1333333 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTTCTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 449 191 0.9342865 1 0.9671432 NA NA 0.9856695 0.9180054 NA NA -0.05138302 0.08199461 NA 0.9518374 NA 0.0153058 NA FALSE NA 0.006 -1.29 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 1 NA TAC A,T 1.647e-05 9:128958015 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 splice_region_variant 0.040307 0.1438 0.05234 0.719381 0.7876565 0 0.9870793 TRUE 1.63351e-05 ENSE00001805440_006 ENSE00001805440 006 9 131720221 131720390 + 68 45 57 T C 131720296 2867 76 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACCGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958016 128958017 128958017 exon 8 0.1777778 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACCGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 297 569 1 1 1 NA NA 0.9856695 0.9180054 NA NA 0.01433051 0.08199461 NA 0.9518374 NA 0.04816256 NA FALSE NA 0.999 4.546 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 1 NA CTG T,C 1.647e-05 9:128958017 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 missense_variant 3.115309 0.98195 0.98131 0.719381 0.994521 0 0.9870793 TRUE 1.632e-05 ENSE00001805440_007 ENSE00001805440 007 9 131720221 131720390 + 68 45 57 G T 131720297 2868 77 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTTCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958017 128958018 128958018 exon 9 0.2 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTTCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 358 91 1 1 1 NA NA 0.9856695 0.9180054 NA NA 0.01433051 0.08199461 NA 0.9518374 NA 0.04816256 NA FALSE NA 0.993 0.296 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 1 NA TGC G,T 1.647e-05 9:128958018 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 synonymous_variant 0.503943 0.90549 0.78333 0.719381 0.6754435 0 0.9870793 TRUE 1.63243e-05 ENSE00001805440_009 ENSE00001805440 009 9 131720221 131720390 + 68 45 57 G A 131720341 2870 121 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAATAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958061 128958062 128958062 downstr_intron 8 1.142857 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAATAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 11 167 0.95 1 0.975 NA NA 0.9856695 0.9180054 NA NA -0.03566949 0.08199461 NA 0.9518374 NA 0.02316256 NA FALSE NA 0.105 1.606 NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:128958062 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 splice_region_variant 1.647025 0.53903 0.69759 0.093477 0.7935262 0.236323 0.9870793 TRUE 3.27863e-05 ENSE00001805440_013 ENSE00001805440 013 9 131720221 131720390 + 68 45 57 T A 131720345 2874 125 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGACACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958065 128958066 128958066 downstr_intron 12 1.214286 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGACACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 74 96 0.9931294 1 0.9965647 NA NA 0.9856695 0.9180054 NA NA 0.00745988 0.08199461 NA 0.9518374 NA 0.04472724 NA FALSE NA 0.009 0.765 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 1 NA GTC T,A 8.237e-06 9:128958066 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 intron_variant 2.625759 0.21987 0.39349 0.093477 0.8519483 0.144367 0.9870793 TRUE 8.23913e-06 ENSE00001805440_014 ENSE00001805440 014 9 131720221 131720390 + 68 45 57 C G 131720348 2875 128 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCAGCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958068 128958069 128958069 downstr_intron 15 1.267857 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCAGCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 25 641 0.9099802 1 0.9549901 NA NA 0.9856695 0.9180054 NA NA -0.07568932 0.08199461 NA 0.9518374 NA 0.003152647 NA FALSE NA 0 -0.45 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 rs376086647 1 NA G:0 G:0.0001 ACC C,G 8.237e-06 9:128958069 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 intron_variant 2.147066 0.20821 0.20682 0.093477 0.8182962 0.144367 0.9870793 TRUE 4.11418e-06 ENSE00001805440_015 ENSE00001805440 015 9 131720221 131720390 + 68 45 57 A G 131720350 2876 130 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCGTTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958070 128958071 128958071 downstr_intron 17 1.303571 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCGTTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 36 262 0.8849054 1 0.9424527 NA NA 0.9856695 0.9180054 NA NA -0.1007641 0.08199461 NA 0.9518374 NA -0.009384733 NA FALSE NA 0 -0.719 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 1 NA CAT A,G 1.647e-05 9:128958071 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 intron_variant 2.47201 0.15602 0.07286 0.093477 0.8320165 0.144367 0.9870793 TRUE 1.64919e-05 ENSE00001805440_016 ENSE00001805440 016 9 131720221 131720390 + 68 45 57 A T 131720364 2877 144 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGTTGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958084 128958085 128958085 downstr_intron 31 1.553571 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGTTGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 375 488 0.8540759 0.999922 0.926999 NA NA 0.9856695 0.9180054 NA NA -0.1315935 0.08191659 NA 0.9518374 NA -0.02483848 NA FALSE NA 0 -0.421 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:128958085 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003426919 intron_variant 2.154794 0.16576 0.04637 0.093477 0.8719788 0.144367 0.9870793 TRUE 8.85807e-05 ENSE00001805440_017 ENSE00001805440 017 9 131720221 131720390 + 68 45 57 A G 131720364 2878 144 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGGTGTAAAATTGAGTGACAGCTTCTTGA 128957941 128958111 128958084 128958085 128958085 downstr_intron 31 1.553571 CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGGTGTAAAATTGAGTGACAGCTTCTTGA CTATCTTTTTTTATTACTTGAGTTTTGCCTAAAAGATGGCCTCTTAACTGCTCTGTTTTTCTTTTCAGACAGTACTGCAAGATGAGAGGCAGAGCCAGGCCTTAATCCTGAAGGTCAGTAGTAGTCACCATTTCTATTCTTTGATGTAAAATTGAGTGACAGCTTCTTGA mutant NA NA NA NA NA 441 100 1 1 1 NA NA 0.9856695 0.9180054 NA NA 0.01433051 0.08199461 NA 0.9518374 NA 0.04816256 NA FALSE NA 0 -0.421 NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NUP188 NA NA NA ENSG00000095319 ENSE00003426919 intron_variant 2.303808 0.15951 0.03038 0.093477 0.8683373 0.144367 0.9870793 TRUE 4.21813e-06 ENSE00001805624_000 ENSE00001805624 000 12 48389601 48389770 - 57 45 68 NA NA NA NA NA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 NA NA NA NA NA NA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA natural 95 36 0.9865551 0.9978081 0.9921816 4414 3423 0.9367528 0.9946685 0.9657107 0.9865551 0.9978081 0.9367528 0.9946685 0 0 0 0 0.9921816 0.9657107 0 0 0 FALSE FALSE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001805624 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001805624_001 ENSE00001805624 001 12 48389601 48389770 - 57 45 68 C T 48389621 1365 150 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCACAGATGATTCCCAAGCACTA 47995817 47995987 47995837 47995838 47995838 downstr_intron 37 1.660714 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCACAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 11 1412 1 1 1 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06324718 0.00533146 0.9921816 0.9657107 NA 0.03428932 NA FALSE NA 0 -4.767 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs370065559 1 NA T:0.0002 T:0 GCG C,T 2.471e-05 12:47995838 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.627581 0.07113 0.0063 0.06567 0.5709094 0.0793194 1 TRUE 2.03032e-05 ENSE00001805624_002 ENSE00001805624 002 12 48389601 48389770 - 57 45 68 G A 48389622 1366 149 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTTGCAGATGATTCCCAAGCACTA 47995817 47995987 47995838 47995839 47995839 downstr_intron 36 1.642857 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTTGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 1065 207 0.9954861 1 0.9977431 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.05873329 0.00533146 0.9921816 0.9657107 NA 0.03203238 NA FALSE NA 0 -1.582 rs139082054 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs139082054 1 A:0.0020 A:0.0008 A:0 NA A:0 A:0 A:0.0092 A:0 A:0.0001 CGA G,A 0.0005765 12:47995839 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.231675 0.16806 0.00341 0.06567 0.5789822 0.0453226 1 TRUE 0.000450739 ENSE00001805624_003 ENSE00001805624 003 12 48389601 48389770 - 57 45 68 G A 48389627 1367 144 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATTGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995843 47995844 47995844 downstr_intron 31 1.553571 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATTGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 34 1112 0.9987833 0.9974567 0.99812 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06203046 0.002788189 0.9921816 0.9657107 NA 0.03240933 NA FALSE NA 0 -1.233 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47995844 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.075828 0.30404 0.01973 0.06567 0.4556925 0.0843674 1 TRUE 8.12143e-05 ENSE00001805624_004 ENSE00001805624 004 12 48389601 48389770 - 57 45 68 G T 48389627 1368 144 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATAGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995843 47995844 47995844 downstr_intron 31 1.553571 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATAGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 532 554 1 0.9997144 0.9998572 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06324718 0.00504588 0.9921816 0.9657107 NA 0.03414653 NA FALSE NA 0 -1.233 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001805624 intron_variant -0.36101 0.23817 0.01121 0.06567 0.4533822 0.0843674 1 TRUE 4.06072e-06 ENSE00001805624_005 ENSE00001805624 005 12 48389601 48389770 - 57 45 68 T C 48389629 1369 142 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCGTCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995845 47995846 47995846 downstr_intron 29 1.517857 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCGTCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 443 40 1 1 1 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06324718 0.00533146 0.9921816 0.9657107 NA 0.03428932 NA FALSE NA 0 -0.181 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA ATG T,C 1.647e-05 12:47995846 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.359802 0.25151 0.00312 0.06567 0.2220633 0.0776692 1 TRUE 8.12123e-06 ENSE00001805624_007 ENSE00001805624 007 12 48389601 48389770 - 57 45 68 G A 48389641 1371 130 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTTTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995857 47995858 47995858 downstr_intron 17 1.303571 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTTTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 453 222 1 0.9992869 0.9996435 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06324718 0.004618393 0.9921816 0.9657107 NA 0.03393279 NA FALSE NA 0 -0.004 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA AGA G,A 1.647e-05 12:47995858 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.085497 0.26036 0.03423 0.06567 0.4122684 0.0437068 1 TRUE 8.12137e-06 ENSE00001805624_008 ENSE00001805624 008 12 48389601 48389770 - 57 45 68 A C 48389643 1372 128 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAAGTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995859 47995860 47995860 downstr_intron 15 1.267857 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAAGTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 4628 395 0.9954993 0.9983951 0.9969472 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.05874653 0.003726524 0.9921816 0.9657107 NA 0.03123652 NA FALSE NA 0 -2.147 rs1034762 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs1034762 1 A:0.3173 C:0.7874 C:0.5965 NA C:0.4821 C:0.8489 C:0.638 C:0.7826 C:0.8405 AAT C,C 0.749 12:47995860 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.118374 0.20272 0.00184 0.06567 0.4023572 0.0437068 1 TRUE 0.738197 ENSE00001805624_009 ENSE00001805624 009 12 48389601 48389770 - 57 45 68 G A 48389668 1373 103 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGTAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995884 47995885 47995885 exon -11 0.7777778 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGTAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant 49 21 0.9160837 0.9396019 0.9278428 18 510 1 1 1 0.9865551 0.9978081 0.9367528 0.9946685 -0.07047134 -0.05820614 0.06324718 0.00533146 0.9921816 0.9657107 -0.06433874 0.03428932 0.09862806 FALSE FALSE 0.977 5.156 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:47995885 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 missense_variant 3.510285 0.98861 0.96545 0.536767 0.9966596 0 1 TRUE 4.06098e-06 ENSE00001805624_010 ENSE00001805624 010 12 48389601 48389770 - 57 45 68 G T 48389668 1374 103 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGAAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995884 47995885 47995885 exon -11 0.7777778 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGAAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant 16 22 0.9876071 0.9736139 0.9806105 712 30 1 0.986217 0.9931085 0.9865551 0.9978081 0.9367528 0.9946685 0.001052021 -0.02419418 0.06324718 -0.008451523 0.9921816 0.9657107 -0.01157108 0.02739783 0.03896891 FALSE FALSE 0.977 5.156 NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001805624 missense_variant 3.325311 0.9889 0.97063 0.536767 0.9810144 0 1 TRUE 1.62439e-05 ENSE00001805624_011 ENSE00001805624 011 12 48389601 48389770 - 57 45 68 A G 48389707 1375 64 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGACGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995923 47995924 47995924 upstr_intron -5 -0.05882353 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGACGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 606 2246 0.9979447 0.9988011 0.9983729 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06119189 0.00413251 0.9921816 0.9657107 NA 0.0326622 NA FALSE NA 0 0.21 rs41317891 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs41317891 1 NA CAT A,G 8.237e-06 12:47995924 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 splice_region_variant 0.088112 0.49314 0.1199 0.06567 0.5586135 0.256674 1 TRUE 8.12315e-06 ENSE00001805624_012 ENSE00001805624 012 12 48389601 48389770 - 57 45 68 C T 48389709 1376 62 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCAATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995925 47995926 47995926 upstr_intron -7 -0.08823529 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCAATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 1266 1112 0.9932545 0.999135 0.9961948 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.05650172 0.004466477 0.9921816 0.9657107 NA 0.0304841 NA FALSE NA 0 -0.909 rs7967258 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs7967258 1 T:0.0190 T:0.0613 T:0.013 NA T:0 T:0.005 T:0 T:0.0533 T:0.0055 TCG C,T 0.008838 12:47995926 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 splice_region_variant -0.19306 0.26786 0.00539 0.06567 0.5117467 0.123228 1 TRUE 0.00828615 ENSE00001805624_013 ENSE00001805624 013 12 48389601 48389770 - 57 45 68 G A 48389710 1377 61 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCTGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995926 47995927 47995927 upstr_intron -8 -0.1029412 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCTGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 75 147 0.9750939 1 0.9875469 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.03834104 0.00533146 0.9921816 0.9657107 NA 0.02183625 NA FALSE NA 0 0.008 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs369362701 1 NA A:0.0002 A:0 CGG G,A 2.471e-05 12:47995927 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 splice_region_variant -0.506043 0.28668 0.02199 0.06567 0.5374119 0.122053 1 TRUE 5.68671e-05 ENSE00001805624_015 ENSE00001805624 015 12 48389601 48389770 - 57 45 68 A G 48389736 1379 35 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGCGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995952 47995953 47995953 upstr_intron -34 -0.4852941 AAGATGGCACACTGGAGGCCACTGAGGAAGCATGCGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 736 575 0.9984804 0.9890766 0.9937785 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06172762 -0.00559193 0.9921816 0.9657107 NA 0.02806785 NA FALSE NA 0 0.338 rs41317889 downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs41317889 1 G:0.0100 G:0.0008 G:0 NA G:0.0486 G:0 G:0 G:0.0007 G:0 CAC A,G 0.004365 12:47995953 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.147505 0.31885 0.06527 0.06567 0.5076406 0.0633637 1 TRUE 0.00435564 ENSE00001805624_016 ENSE00001805624 016 12 48389601 48389770 - 57 45 68 T C 48389739 1380 32 AAGATGGCACACTGGAGGCCACTGAGGAAGCGTGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995955 47995956 47995956 upstr_intron -37 -0.5294118 AAGATGGCACACTGGAGGCCACTGAGGAAGCGTGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 195 461 0.9992132 1 0.9996066 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06246041 0.00533146 0.9921816 0.9657107 NA 0.03389593 NA FALSE NA 0 -2.237 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA ATG T,C 1.647e-05 12:47995956 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.211791 0.20211 0.04194 0.06567 0.4071255 0.0633637 1 TRUE 1.22032e-05 ENSE00001805624_017 ENSE00001805624 017 12 48389601 48389770 - 57 45 68 T C 48389742 1381 29 AAGATGGCACACTGGAGGCCACTGAGGAGGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995958 47995959 47995959 upstr_intron -40 -0.5735294 AAGATGGCACACTGGAGGCCACTGAGGAGGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 1787 966 0.9949259 0.9991121 0.997019 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.05817304 0.004443572 0.9921816 0.9657107 NA 0.03130831 NA FALSE NA 0 0.004 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 rs535283877 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CTT T,C 8.237e-06 12:47995959 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant -0.117515 0.32938 0.0294 0.06567 0.5403396 0.0633637 1 TRUE 4.07024e-06 ENSE00001805624_019 ENSE00001805624 019 12 48389601 48389770 - 57 45 68 G A 48389751 1383 20 AAGATGGCACACTGGAGGCTACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 47995967 47995968 47995968 upstr_intron -49 -0.7058824 AAGATGGCACACTGGAGGCTACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA mutant NA NA NA NA NA 136 167 1 0.9884623 0.9942312 0.9865551 0.9978081 0.9367528 0.9946685 NA NA 0.06324718 -0.006206198 0.9921816 0.9657107 NA 0.02852049 NA FALSE NA 0 -1.276 . downstream_gene_variant MODIFIER COL2A1 HGNC 2200 ENST00000490609 1 NA TGG G,A 2.471e-05 12:47995968 COL2A1 HGNC Symbol protein_coding 31589 ENSG00000139219 ENSE00001805624 intron_variant 1.537216 0.27813 0.01581 0.06567 0.7309822 0.222401 1 TRUE 3.26469e-05 ENSE00001805624_BRK ENSE00001805624 BRK 12 48389601 48389770 - 57 45 68 A,G; T,T NA NA NA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCTTGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTCCAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA 47995817 47995987 NA NA NA NA NA NA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCTTGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTCCAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA AAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAGGGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCTGTAAGTATCTGCAATTCTTTTTGCCTCCATCGTGTCGCAGATGATTCCCAAGCACTA control 12 66 0 0 0 832 60 0 0 0 0.9865551 0.9978081 0.9367528 0.9946685 -0.9865551 -0.9978081 -0.9367528 -0.9946685 0.9921816 0.9657107 -0.9921816 -0.9657107 0.02647089 TRUE TRUE NA NA NA NA NA COL2A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL2A1 NA NA NA ENSG00000139219 ENSE00001805624 NA NA NA NA NA NA NA 1 TRUE NA ENSE00001805855_000 ENSE00001805855 000 19 17729191 17729360 - 39 81 50 NA NA NA NA NA CATCCCCCACCTGGGATGGGGAGGGGTAGGGCCTCTCACCTTGATGGTGTCCAGGGCCAACTCAACAACCGCGCACTGCTTTGGGGTCAAGCTCTTGGCTTCTTCTCGTACCATGTGATCCTGGATGGATGGGGAGAGGGGCCATGTGGGTGGAGTGGGCTCCACCTTTG 17618381 17618551 NA NA NA NA NA NA CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG natural NA NA NA NA NA 1434 1017 0.656576 0.6995456 0.6780608 NA NA 0.656576 0.6995456 NA NA 0 0 NA 0.6780608 NA 0 NA FALSE NA NA NA NA NA NA UNC13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13A NA NA NA ENSG00000130477 ENSE00003568937 NA NA NA NA NA NA NA 0.9999867 TRUE NA ENSE00001805855_003 ENSE00001805855 003 19 17729191 17729360 - 39 81 50 G C 17729236 1680 125 CATCCCCCACCTGGGATGGGGAGGGGTAGGGCCTCTCACCTTGATCGTGTCCAGGGCCAACTCAACAACCGCGCACTGCTTTGGGGTCAAGCTCTTGGCTTCTTCTCGTACCATGTGATCCTGGATGGATGGGGAGAGGGGCCATGTGGGTGGAGTGGGCTCCACCTTTG 17618381 17618551 17618426 17618427 17618427 exon -7 0.9259259 CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACGATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG mutant NA NA NA NA NA 108 98 0.9349659 0.8522637 0.8936148 NA NA 0.656576 0.6995456 NA NA 0.2783899 0.1527181 NA 0.6780608 NA 0.215554 NA FALSE NA 0.979 0.111 . synonymous_variant LOW UNC13A HGNC 23150 ENST00000252773 39/43 rs369222203 1 NA C:0.0002 C:0 TGG G,C 1.659e-05 19:17618427 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00003568937 synonymous_variant -0.155513 0.93628 0.83318 0.695654 0.5814537 0 0.9999867 TRUE 3.16763e-05 ENSE00001805855_008 ENSE00001805855 008 19 17729191 17729360 - 39 81 50 C G 17729260 1685 101 CATCCCCCACCTGGGATGGGGAGGGGTAGGGCCTCTCACCTTGATGGTGTCCAGGGCCAACTCAACAACGGCGCACTGCTTTGGGGTCAAGCTCTTGGCTTCTTCTCGTACCATGTGATCCTGGATGGATGGGGAGAGGGGCCATGTGGGTGGAGTGGGCTCCACCTTTG 17618381 17618551 17618450 17618451 17618451 exon -31 0.6296296 CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCCGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG mutant NA NA NA NA NA 97 306 0.8 0.8008258 0.8004129 NA NA 0.656576 0.6995456 NA NA 0.143424 0.1012802 NA 0.6780608 NA 0.1223521 NA FALSE NA 0 -7.081 NA NA NA UNC13A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:17618451 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00003568937 synonymous_variant 0.77641 0.04723 0.00699 0.695654 0.3394229 0 0.9999867 TRUE 9.54007e-06 ENSE00001805855_010 ENSE00001805855 010 19 17729191 17729360 - 39 81 50 G C 17729274 1687 87 CATCCCCCACCTGGGATGGGGAGGGGTAGGGCCTCTCACCTTGATGGTGTCCAGGGCCAACTCAACAACCGCGCACTGCTTTGCGGTCAAGCTCTTGGCTTCTTCTCGTACCATGTGATCCTGGATGGATGGGGAGAGGGGCCATGTGGGTGGAGTGGGCTCCACCTTTG 17618381 17618551 17618464 17618465 17618465 exon 37 0.4567901 CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCGCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG mutant NA NA NA NA NA 37 246 0.01340394 0.001302767 0.007353355 NA NA 0.656576 0.6995456 NA NA -0.6431721 -0.6982428 NA 0.6780608 NA -0.6707075 NA TRUE NA 1 9.592 . missense_variant MODERATE UNC13A HGNC 23150 ENST00000252773 39/43 rs371818617 1 probably_damaging(0.999) NA C:0 C:0.0002 GGG G,C 5.791e-05 19:17618465 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00003568937 missense_variant 5.029147 0.99156 0.99158 0.695654 0.9954281 0 0.9999867 TRUE 0.000117368 ENSE00001805855_011 ENSE00001805855 011 19 17729191 17729360 - 39 81 50 T C 17729285 1688 76 CATCCCCCACCTGGGATGGGGAGGGGTAGGGCCTCTCACCTTGATGGTGTCCAGGGCCAACTCAACAACCGCGCACTGCTTTGGGGTCAAGCTCCTGGCTTCTTCTCGTACCATGTGATCCTGGATGGATGGGGAGAGGGGCCATGTGGGTGGAGTGGGCTCCACCTTTG 17618381 17618551 17618475 17618476 17618476 exon 26 0.3209877 CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAGGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG mutant NA NA NA NA NA 92 5904 0.7134601 0.7891835 0.7513218 NA NA 0.656576 0.6995456 NA NA 0.05688409 0.08963787 NA 0.6780608 NA 0.07326098 NA FALSE NA 1 2.741 . missense_variant MODERATE UNC13A HGNC 23150 ENST00000252773 39/43 1 benign(0.021) NA CTT T,C 8.279e-06 19:17618476 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00003568937 missense_variant 2.03539 0.98825 0.91891 0.695654 0.9845718 0 0.9999867 TRUE 9.40601e-06 ENSE00001805855_014 ENSE00001805855 014 19 17729191 17729360 - 39 81 50 G C 17729343 1691 18 CATCCCCCACCTGGGATGGGGAGGGGTAGGGCCTCTCACCTTGATGGTGTCCAGGGCCAACTCAACAACCGCGCACTGCTTTGGGGTCAAGCTCTTGGCTTCTTCTCGTACCATGTGATCCTGGATGGATGGGGAGAGGGGCCATGTGGGTGCAGTGGGCTCCACCTTTG 17618381 17618551 17618533 17618534 17618534 upstr_intron -33 -0.64 CAAAGGTGGAGCCCACTGCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG mutant NA NA NA NA NA 798 563 0.02159292 0.006320473 0.0139567 NA NA 0.656576 0.6995456 NA NA -0.6349831 -0.6932251 NA 0.6780608 NA -0.6641041 NA TRUE NA 0 -0.629 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 38/42 rs561619102 1 C:0.0008 C:0 C:0 NA C:0 C:0 C:0.0041 GGA G,C 0.0002201 19:17618534 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00003568937 intron_variant -0.173756 0.146 0.0258 0.090766 0.4722831 0.0918335 0.9999867 TRUE 0.000278882 ENSE00001805855_015 ENSE00001805855 015 19 17729191 17729360 - 39 81 50 G A 17729345 1692 16 CATCCCCCACCTGGGATGGGGAGGGGTAGGGCCTCTCACCTTGATGGTGTCCAGGGCCAACTCAACAACCGCGCACTGCTTTGGGGTCAAGCTCTTGGCTTCTTCTCGTACCATGTGATCCTGGATGGATGGGGAGAGGGGCCATGTGGGTGGAATGGGCTCCACCTTTG 17618381 17618551 17618535 17618536 17618536 upstr_intron -35 -0.68 CAAAGGTGGAGCCCATTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG mutant NA NA NA NA NA 2123 33 0.02464609 0.05355836 0.03910222 NA NA 0.656576 0.6995456 NA NA -0.63193 -0.6459872 NA 0.6780608 NA -0.6389586 NA TRUE NA 0 0.053 . intron_variant MODIFIER UNC13A HGNC 23150 ENST00000252773 38/42 1 NA AGT G,A 8.482e-06 19:17618536 UNC13A HGNC Symbol protein_coding 87037 ENSG00000130477 ENSE00003568937 intron_variant 0.201236 0.25005 0.05095 0.090766 0.3822722 0.0918335 0.9999867 TRUE 2.39484e-05 ENSE00001805855_BRK ENSE00001805855 BRK 19 17729191 17729360 - 39 81 50 A,G; T,T NA NA NA CATCCCCCACCTGGGATGGGGAGGGGTAGGGCCTCTCGGCTTGATGGTGTCCAGGGCCAACTCAACAACCGCGCACTGCTTTGGGGTCAAGCTCTTGGCTTCTTCTCGTACCATGTGATCAAGGATGGATGGGGAGAGGGGCCATGTGGGTGGAGTGGGCTCCACCTTTG 17618381 17618551 NA NA NA NA NA NA CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCTTGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGCCGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG CAAAGGTGGAGCCCACTCCACCCACATGGCCCCTCTCCCCATCCATCCAGGATCACATGGTACGAGAAGAAGCCAAGAGCTTGACCCCAAAGCAGTGCGCGGTTGTTGAGTTGGCCCTGGACACCATCAAGGTGAGAGGCCCTACCCCTCCCCATCCCAGGTGGGGGATG control 367 171 0 0 0 41 1249 0 0.0101733 0.00508665 NA NA 0.656576 0.6995456 NA NA -0.656576 -0.6893723 NA 0.6780608 NA -0.6729742 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UNC13A NA NA NA ENSG00000130477 ENSE00003568937 NA NA NA NA NA NA NA 0.9999867 TRUE NA ENSE00001806049_000 ENSE00001806049 000 10 293282 293451 + 56 69 45 NA NA NA NA NA TCCTGTTTCATTTGCCACCTGGATACTGCGAGGTGGGCAACTTACTTCCTTTTTGGGCTCCACACTTTGATTACGTCGTCCTTTCTTTGCTCTTGGTTCTTGAGTGACCTTTAGCTGTGGGCATTATAAAAGTAATATATTATTCCAGACACTAGAAAATACTTCTCTGC 247341 247511 NA NA NA NA NA NA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA natural 11 13 0.9991938 1 0.9995969 1152 1456 0.995581 0.9981928 0.9968869 0.9991938 1 0.995581 0.9981928 0 0 0 0 0.9995969 0.9968869 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMYND11 NA NA NA ENSG00000015171 ENSE00003538020 NA NA NA NA NA NA NA 0.9999636 TRUE NA ENSE00001806049_002 ENSE00001806049 002 10 293282 293451 + 56 69 45 T C 293294 16 13 TCCTGTTTCATTTGCCACCTGGATACTGCGAGGTGGGCAACTTACTTCCTTTTTGGGCTCCACACTTTGATTACGTCGTCCTTTCTTTGCTCTTGGTTCTTGAGTGACCTTTAGCTGTGGGCATTATAAAAGTAATATATTATTCCAGACACTAGAAGATACTTCTCTGC 247341 247511 247353 247354 247354 upstr_intron -44 -0.7678571 GCAGAGAAGTATCTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA mutant NA NA NA NA NA 307 84 1 1 1 0.9991938 1 0.995581 0.9981928 NA NA 0.004418985 0.001807205 0.9995969 0.9968869 NA 0.003113095 NA FALSE NA 0.952 1.921 NA NA NA ZMYND11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:247354 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003538020 intron_variant 0.176437 0.31527 0.73693 0.093477 0.6545694 0.0455939 0.9999636 TRUE 8.27588e-06 ENSE00001806049_005 ENSE00001806049 005 10 293282 293451 + 56 69 45 G A 293375 19 94 TCCTGTTTCATTTGCCACCTGGATACTGCGAGGTGGGCAACTTACTTCCTTTTTGGGCTCCACACTTTGATTACGTTGTCCTTTCTTTGCTCTTGGTTCTTGAGTGACCTTTAGCTGTGGGCATTATAAAAGTAATATATTATTCCAGACACTAGAAAATACTTCTCTGC 247341 247511 247434 247435 247435 exon -32 0.5507246 GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACAACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA mutant NA NA NA NA NA 143 296 1 0.9892979 0.994649 0.9991938 1 0.995581 0.9981928 NA NA 0.004418985 -0.008894875 0.9995969 0.9968869 NA -0.002237945 NA FALSE NA 1 9.007 . missense_variant MODERATE ZMYND11 HGNC 16966 ENST00000558098 11/13 COSM1317468&COSM1317469&COSM1317467 1 tolerated(0.24) probably_damaging(0.926) NA CGA G,A 8.236e-06 10:247435 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003538020 missense_variant 6.742167 0.99544 0.99521 0.732398 0.9995605 0 0.9999636 TRUE 4.06663e-06 ENSE00001806049_006 ENSE00001806049 006 10 293282 293451 + 56 69 45 G A 293378 20 97 TCCTGTTTCATTTGCCACCTGGATACTGCGAGGTGGGCAACTTACTTCCTTTTTGGGCTCCACACTTTGATTATGTCGTCCTTTCTTTGCTCTTGGTTCTTGAGTGACCTTTAGCTGTGGGCATTATAAAAGTAATATATTATTCCAGACACTAGAAAATACTTCTCTGC 247341 247511 247437 247438 247438 exon -29 0.5942029 GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACATAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA mutant 222 347 0.85 0.8468005 0.8484003 NA NA NA NA NA 0.9991938 1 0.995581 0.9981928 -0.1491938 -0.1531995 NA NA 0.9995969 0.9968869 -0.1511966 NA NA NA FALSE 1 9.007 . missense_variant MODERATE ZMYND11 HGNC 16966 ENST00000558098 11/13 1 deleterious(0.03) probably_damaging(0.985) NA CGT G,A 1.647e-05 10:247438 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003538020 missense_variant 6.145318 0.9921 0.99351 0.732398 0.9994463 0 0.9999636 TRUE 8.13398e-06 ENSE00001806049_007 ENSE00001806049 007 10 293282 293451 + 56 69 45 A T 293402 21 121 TCCTGTTTCATTTGCCACCTGGATACTGCGAGGTGGGCAACTTACTTCCATTTTGGGCTCCACACTTTGATTACGTCGTCCTTTCTTTGCTCTTGGTTCTTGAGTGACCTTTAGCTGTGGGCATTATAAAAGTAATATATTATTCCAGACACTAGAAAATACTTCTCTGC 247341 247511 247461 247462 247462 exon -5 0.942029 GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAATGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA mutant NA NA NA NA NA 18 44 1 1 1 0.9991938 1 0.995581 0.9981928 NA NA 0.004418985 0.001807205 0.9995969 0.9968869 NA 0.003113095 NA FALSE NA 1 8.521 . missense_variant MODERATE ZMYND11 HGNC 16966 ENST00000558098 11/13 1 deleterious(0.02) possibly_damaging(0.827) NA AAG A,T 8.237e-06 10:247462 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003538020 missense_variant 5.325397 0.99373 0.99515 0.732398 0.9953434 0 0.9999636 TRUE 4.071e-06 ENSE00001806049_010 ENSE00001806049 010 10 293282 293451 + 56 69 45 G C 293426 24 145 TCCTGTTTCATTTGCCACCTGGATAGTGCGAGGTGGGCAACTTACTTCCTTTTTGGGCTCCACACTTTGATTACGTCGTCCTTTCTTTGCTCTTGGTTCTTGAGTGACCTTTAGCTGTGGGCATTATAAAAGTAATATATTATTCCAGACACTAGAAAATACTTCTCTGC 247341 247511 247485 247486 247486 downstr_intron 20 1.454545 GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCACTATCCAGGTGGCAAATGAAACAGGA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA mutant NA NA NA NA NA 75 14 1 1 1 0.9991938 1 0.995581 0.9981928 NA NA 0.004418985 0.001807205 0.9995969 0.9968869 NA 0.003113095 NA FALSE NA 0 -0.213 . intron_variant MODIFIER ZMYND11 HGNC 16966 ENST00000558098 11/12 rs376360360 1 NA C:0 C:0.0001 AGT G,C 8.237e-06 10:247486 ZMYND11 HGNC Symbol protein_coding 120172 ENSG00000015171 ENSE00003538020 intron_variant -0.249215 0.27489 0.22129 0.091178 0.4357452 0.0528747 0.9999636 TRUE 4.09333e-06 ENSE00001806049_BRK ENSE00001806049 BRK 10 293282 293451 + 56 69 45 A,G; T,T NA NA NA TCCTGTTTCATTTGCCACCTGGATACTGCGAGGTGGGCAACTTGGTTCCTTTTTGGGCTCCACACTTTGATTACGTCGTCCTTTCTTTGCTCTTGGTTCTTGAGTGACCTTTAGAAGTGGGCATTATAAAAGTAATATATTATTCCAGACACTAGAAAATACTTCTCTGC 247341 247511 NA NA NA NA NA NA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACTTCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAACCAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA GCAGAGAAGTATTTTCTAGTGTCTGGAATAATATATTACTTTTATAATGCCCACAGCTAAAGGTCACTCAAGAACCAAGAGCAAAGAAAGGACGACGTAATCAAAGTGTGGAGCCCAAAAAGGAAGTAAGTTGCCCACCTCGCAGTATCCAGGTGGCAAATGAAACAGGA control 59 15 0 0 0 NA NA NA NA NA 0.9991938 1 0.995581 0.9981928 -0.9991938 -1 NA NA 0.9995969 0.9968869 -0.9995969 NA NA NA TRUE NA NA NA NA NA ZMYND11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZMYND11 NA NA NA ENSG00000015171 ENSE00003538020 NA NA NA NA NA NA NA 0.9999636 TRUE NA ENSE00001965627_000 ENSE00001965627 000 6 15504687 15504856 + 44 93 33 NA NA NA NA NA TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 NA NA NA NA NA NA TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT natural NA NA NA NA NA 642 525 0.9260994 0.995829 0.9609642 NA NA 0.9260994 0.995829 NA NA 0 0 NA 0.9609642 NA 0 NA FALSE NA NA NA NA NA NA JARID2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JARID2 NA NA NA ENSG00000008083 ENSE00003512141 NA NA NA NA NA NA NA 0.9998622 TRUE NA ENSE00001965627_001 ENSE00001965627 001 6 15504687 15504856 + 44 93 33 T C 15504700 109 14 TCAGCTTTGCTTCCGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504468 15504469 15504469 upstr_intron -31 -0.6818182 TCAGCTTTGCTTCCGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 74 1320 1 0.9997112 0.9998556 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.003882176 NA 0.9609642 NA 0.03889139 NA FALSE NA 0.028 1.453 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 8/17 1 NA CTG T,C 8.236e-06 6:15504469 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant 0.236346 0.17235 0.25169 0.115753 0.4795819 0.0540149 0.9998622 TRUE 4.06696e-06 ENSE00001965627_002 ENSE00001965627 002 6 15504687 15504856 + 44 93 33 T G 15504706 110 20 TCAGCTTTGCTTCTGAAGCGTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504474 15504475 15504475 upstr_intron -25 -0.5454545 TCAGCTTTGCTTCTGAAGCGTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 142 1060 0.9856644 0.9994544 0.9925594 NA NA 0.9260994 0.995829 NA NA 0.05956496 0.003625419 NA 0.9609642 NA 0.03159519 NA FALSE NA 0.001 0.615 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 8/17 1 NA CTT T,G 8.236e-06 6:15504475 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant 0.234218 0.23345 0.31768 0.256867 0.6484732 0.0975028 0.9998622 TRUE NA ENSE00001965627_003 ENSE00001965627 003 6 15504687 15504856 + 44 93 33 C T 15504710 111 24 TCAGCTTTGCTTCTGAAGCTTTATTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504478 15504479 15504479 upstr_intron -21 -0.4545455 TCAGCTTTGCTTCTGAAGCTTTATTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 213 466 1 1 1 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004171007 NA 0.9609642 NA 0.0390358 NA FALSE NA 0 0.341 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 8/17 1 NA ACT C,T 8.236e-06 6:15504479 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant 0.593109 0.27684 0.2231 0.256867 0.7901034 0.0975028 0.9998622 TRUE 4.06312e-06 ENSE00001965627_004 ENSE00001965627 004 6 15504687 15504856 + 44 93 33 T C 15504711 112 25 TCAGCTTTGCTTCTGAAGCTTTACCGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504479 15504480 15504480 upstr_intron -20 -0.4318182 TCAGCTTTGCTTCTGAAGCTTTACCGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 30 326 1 1 1 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004171007 NA 0.9609642 NA 0.0390358 NA FALSE NA 0 0.505 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 8/17 1 NA CTG T,C 1.647e-05 6:15504480 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant 0.114655 0.23572 0.30595 0.256867 0.6553942 0.120021 0.9998622 TRUE 1.625e-05 ENSE00001965627_005 ENSE00001965627 005 6 15504687 15504856 + 44 93 33 T G 15504745 113 59 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCGCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504513 15504514 15504514 exon 15 0.1612903 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCGCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 63 911 1 0.9998327 0.9999164 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004003733 NA 0.9609642 NA 0.03895217 NA FALSE NA 1 0.998 . synonymous_variant LOW JARID2 HGNC 6196 ENST00000397311 9/18 1 NA CTC T,G 1.647e-05 6:15504514 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 synonymous_variant 0.766071 0.93189 0.86853 0.67177 0.7422518 0 0.9998622 TRUE 8.12156e-06 ENSE00001965627_006 ENSE00001965627 006 6 15504687 15504856 + 44 93 33 C T 15504746 114 60 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTTTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504514 15504515 15504515 exon 16 0.172043 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTTTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 118 139 1 1 1 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004171007 NA 0.9609642 NA 0.0390358 NA FALSE NA 1 2.18 . synonymous_variant LOW JARID2 HGNC 6196 ENST00000397311 9/18 1 NA TCT C,T 8.236e-06 6:15504515 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 synonymous_variant 1.78714 0.91674 0.59677 0.67177 0.759963 0 0.9998622 TRUE NA ENSE00001965627_008 ENSE00001965627 008 6 15504687 15504856 + 44 93 33 C T 15504778 116 92 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATTATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504546 15504547 15504547 exon -46 0.516129 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATTATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 325 163 1 0.9949413 0.9974707 NA NA 0.9260994 0.995829 NA NA 0.0739006 -0.0008876744 NA 0.9609642 NA 0.03650646 NA FALSE NA 1 2.96 . synonymous_variant LOW JARID2 HGNC 6196 ENST00000397311 9/18 1 NA TCA C,T 8.236e-06 6:15504547 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 synonymous_variant 1.984278 0.93453 0.90435 0.67177 0.8124253 0 0.9998622 TRUE 4.06065e-06 ENSE00001965627_009 ENSE00001965627 009 6 15504687 15504856 + 44 93 33 G A 15504781 117 95 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATAAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504549 15504550 15504550 exon -43 0.5483871 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATAAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 175 243 1 1 1 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004171007 NA 0.9609642 NA 0.0390358 NA FALSE NA 1 9.668 . missense_variant MODERATE JARID2 HGNC 6196 ENST00000397311 9/18 1 deleterious(0.01) benign(0.391) NA TGA G,A 8.236e-06 6:15504550 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 missense_variant 5.196007 0.97177 0.9829 0.67177 0.9975468 0 0.9998622 TRUE 4.06072e-06 ENSE00001965627_010 ENSE00001965627 010 6 15504687 15504856 + 44 93 33 G A 15504806 118 120 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTACCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504574 15504575 15504575 exon -18 0.8172043 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTACCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 255 276 1 0.9907192 0.9953596 NA NA 0.9260994 0.995829 NA NA 0.0739006 -0.005109776 NA 0.9609642 NA 0.03439541 NA FALSE NA 1 3.413 rs183236794 missense_variant MODERATE JARID2 HGNC 6196 ENST00000397311 9/18 rs183236794&COSM3410719 1 tolerated(0.82) benign(0.002) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGC G,A 3.295e-05 6:15504575 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 missense_variant 2.139488 0.9086 0.87263 0.67177 0.9500938 0 0.9998622 TRUE 4.8744e-05 ENSE00001965627_011 ENSE00001965627 011 6 15504687 15504856 + 44 93 33 C T 15504814 119 128 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCTGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504582 15504583 15504583 exon -10 0.9032258 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCTGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 169 413 1 0.9967082 0.9983541 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.0008792316 NA 0.9609642 NA 0.03738992 NA FALSE NA 0.008 -1.003 . synonymous_variant LOW JARID2 HGNC 6196 ENST00000397311 9/18 rs542142762 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 CCG C,T 9.06e-05 6:15504583 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 synonymous_variant 2.731092 0.86812 0.08333 0.67177 0.6489041 0 0.9998622 TRUE 9.74928e-05 ENSE00001965627_012 ENSE00001965627 012 6 15504687 15504856 + 44 93 33 G A 15504815 120 129 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCAAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504583 15504584 15504584 exon -9 0.9139785 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCAAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 226 345 1 1 1 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004171007 NA 0.9609642 NA 0.0390358 NA FALSE NA 1 7.568 . missense_variant MODERATE JARID2 HGNC 6196 ENST00000397311 9/18 1 deleterious(0) probably_damaging(0.91) NA CGA G,A 8.236e-06 6:15504584 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 missense_variant 7.534269 0.95633 0.98238 0.67177 0.9992583 0 0.9998622 TRUE 2.84391e-05 ENSE00001965627_013 ENSE00001965627 013 6 15504687 15504856 + 44 93 33 C T 15504820 121 134 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATTGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 15504588 15504589 15504589 exon -4 0.9677419 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATTGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 52 70 1 1 1 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004171007 NA 0.9609642 NA 0.0390358 NA FALSE NA 0 -3.013 . synonymous_variant LOW JARID2 HGNC 6196 ENST00000397311 9/18 rs561928218 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCG C,T 8.236e-06 6:15504589 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 synonymous_variant 2.180256 0.2148 0.05792 0.67177 0.8084265 0 0.9998622 TRUE 1.21899e-05 ENSE00001965627_015 ENSE00001965627 015 6 15504687 15504856 + 44 93 33 G A 15504836 123 150 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGACCCCTCACGCTGCCTCTCAT 15504455 15504625 15504604 15504605 15504605 downstr_intron 13 1.40625 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGACCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 42 40 1 0.9514408 0.9757204 NA NA 0.9260994 0.995829 NA NA 0.0739006 -0.04438819 NA 0.9609642 NA 0.01475621 NA FALSE NA 0.012 2.5 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 9/17 1 NA GGC G,A 8.237e-06 6:15504605 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant 0.32851 0.30952 0.19727 0.119485 0.7996252 0.0650937 0.9998622 TRUE 4.07266e-06 ENSE00001965627_016 ENSE00001965627 016 6 15504687 15504856 + 44 93 33 C T 15504839 124 153 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCTCTCACGCTGCCTCTCAT 15504455 15504625 15504607 15504608 15504608 downstr_intron 16 1.5 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCTCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 1035 1305 0.8812426 1 0.9406213 NA NA 0.9260994 0.995829 NA NA -0.04485676 0.004171007 NA 0.9609642 NA -0.02034288 NA FALSE NA 0 0.179 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 9/17 1 NA CCC C,T 2.471e-05 6:15504608 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant 0.50169 0.15625 0.04902 0.114469 0.8002319 0.0650937 0.9998622 TRUE 1.22468e-05 ENSE00001965627_017 ENSE00001965627 017 6 15504687 15504856 + 44 93 33 C T 15504840 125 154 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCTTCACGCTGCCTCTCAT 15504455 15504625 15504608 15504609 15504609 downstr_intron 17 1.53125 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCTTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 671 50 0.9957604 1 0.9978802 NA NA 0.9260994 0.995829 NA NA 0.06966097 0.004171007 NA 0.9609642 NA 0.03691599 NA FALSE NA 0 -0.009 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 9/17 1 NA CCT C,T 2.471e-05 6:15504609 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant 0.382549 0.14769 0.00654 0.114469 0.7860893 0.0650937 0.9998622 TRUE 2.04063e-05 ENSE00001965627_018 ENSE00001965627 018 6 15504687 15504856 + 44 93 33 A G 15504843 126 157 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCGCGCTGCCTCTCAT 15504455 15504625 15504611 15504612 15504612 downstr_intron 20 1.625 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCGCGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 77 259 1 1 1 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004171007 NA 0.9609642 NA 0.0390358 NA FALSE NA 0 -2.079 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 9/17 1 NA CAC A,G 8.237e-06 6:15504612 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant -0.492392 0.10582 0.01383 0.114469 0.1967605 0.064409 0.9998622 TRUE 4.08087e-06 ENSE00001965627_019 ENSE00001965627 019 6 15504687 15504856 + 44 93 33 C T 15504844 127 158 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCATGCTGCCTCTCAT 15504455 15504625 15504612 15504613 15504613 downstr_intron 21 1.65625 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCATGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 197 920 1 1 1 NA NA 0.9260994 0.995829 NA NA 0.0739006 0.004171007 NA 0.9609642 NA 0.0390358 NA FALSE NA 0 -1.366 . intron_variant MODIFIER JARID2 HGNC 6196 ENST00000397311 9/17 rs373620835 1 NA T:0 T:0.0001 ACG C,T 2.471e-05 6:15504613 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant 0.094359 0.09756 0.00566 0.115753 0.5917715 0.064409 0.9998622 TRUE 2.45164e-05 ENSE00001965627_020 ENSE00001965627 020 6 15504687 15504856 + 44 93 33 G C 15504845 128 159 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACCCTGCCTCTCAT 15504455 15504625 15504613 15504614 15504614 downstr_intron 22 1.6875 TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACCCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT mutant NA NA NA NA NA 1045 1049 0.9990113 0.8867066 0.9428589 NA NA 0.9260994 0.995829 NA NA 0.07291189 -0.1091224 NA 0.9609642 NA -0.01810525 NA FALSE NA 0 1.891 NA NA NA JARID2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:15504614 JARID2 HGNC Symbol protein_coding 275744 ENSG00000008083 ENSE00003512141 intron_variant -0.015561 0.15239 0.10947 0.115753 0.3813388 0.064409 0.9998622 TRUE 2.8627e-05 ENSE00001965627_BRK ENSE00001965627 BRK 6 15504687 15504856 + 44 93 33 A,G; T,T NA NA NA TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCTTGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGCCGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT 15504455 15504625 NA NA NA NA NA NA TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCTTGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGCCGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT TCAGCTTTGCTTCTGAAGCTTTACTGTTTTTTGTTTTGTTTCAGGGAAGGTCTGTTTCTCTAACAACTTTTTATCGAACAGCGAGGAATATCATGAGCATGTGTTTCAGCAAGGAGCCTGCCCCAGCCGAAATCGAGGTGAGAGAAGGGGCCCCTCACGCTGCCTCTCAT control 218 61 0.4509734 0.2744519 0.3627127 NA NA NA NA NA NA NA 0.9260994 0.995829 NA NA NA NA NA 0.9609642 NA NA NA NA NA NA NA NA NA NA JARID2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JARID2 NA NA NA ENSG00000008083 ENSE00003512141 NA NA NA NA NA NA NA 0.9998622 TRUE NA ENSE00001974284_000 ENSE00001974284 000 6 25669677 25669846 + 62 57 51 NA NA NA NA NA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 NA NA NA NA NA NA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA natural 853 1095 0.8411567 0.8439215 0.8425391 2799 2899 0.7749877 0.8190179 0.7970028 0.8411567 0.8439215 0.7749877 0.8190179 0 0 0 0 0.8425391 0.7970028 0 0 0 FALSE FALSE NA NA NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCGN NA NA NA ENSG00000079689 ENSE00003535115 NA NA NA NA NA NA NA 0.035946 FALSE NA ENSE00001974284_001 ENSE00001974284 001 6 25669677 25669846 + 62 57 51 A G 25669718 367 42 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTGGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669489 25669490 25669490 upstr_intron -21 -0.3225806 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTGGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 182 438 0.9545969 0.9366303 0.9456136 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.1796093 0.1176124 0.8425391 0.7970028 NA 0.1486108 NA FALSE NA 0 -0.619 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 3/8 1 NA TAG A,G 8.236e-06 6:25669490 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 intron_variant 0.443805 0.17882 0.01912 0.053691 0.7674868 0.0526402 0.035946 FALSE NA ENSE00001974284_003 ENSE00001974284 003 6 25669677 25669846 + 62 57 51 T G 25669729 369 53 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGGGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669500 25669501 25669501 upstr_intron -10 -0.1451613 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGGGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 85 1161 0 0.03864092 0.01932046 0.8411567 0.8439215 0.7749877 0.8190179 NA NA -0.7749877 -0.780377 0.8425391 0.7970028 NA -0.7776823 NA TRUE NA 0.876 2.366 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 3/8 rs369698079 1 NA G:0 G:0.0001 GTG T,G 8.236e-06 6:25669501 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 intron_variant 1.744082 0.32398 0.67987 0.053691 0.7184568 0.194944 0.035946 FALSE 8.12229e-06 ENSE00001974284_004 ENSE00001974284 004 6 25669677 25669846 + 62 57 51 G T 25669730 370 54 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTTTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669501 25669502 25669502 upstr_intron -9 -0.1290323 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTTTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 78 3334 0.8532226 0.9297103 0.8914665 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.07823493 0.1106924 0.8425391 0.7970028 NA 0.09446367 NA FALSE NA 0.858 0.631 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 3/8 1 NA TGT G,T 8.236e-06 6:25669502 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 intron_variant 1.679088 0.38388 0.37474 0.053691 0.849726 0.244428 0.035946 FALSE 8.12275e-06 ENSE00001974284_006 ENSE00001974284 006 6 25669677 25669846 + 62 57 51 C T 25669745 372 69 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGTGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669516 25669517 25669517 exon 7 0.122807 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGTGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 108 122 0.801491 0.7837907 0.7926408 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.02650329 -0.03522721 0.8425391 0.7970028 NA -0.004361962 NA FALSE NA 1 2.74 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 4/9 1 NA GCG C,T 2.471e-05 6:25669517 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 missense_variant 7.855795 0.97654 0.84451 0.487112 0.9994209 0 0.035946 FALSE 2.03125e-05 ENSE00001974284_010 ENSE00001974284 010 6 25669677 25669846 + 62 57 51 G A 25669760 376 84 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTAACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669531 25669532 25669532 exon 22 0.3859649 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTAACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 741 635 0.01186209 0 0.005931047 0.8411567 0.8439215 0.7749877 0.8190179 NA NA -0.7631256 -0.8190179 0.8425391 0.7970028 NA -0.7910718 NA TRUE NA 1 7.159 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 4/9 1 NA TGA G,A 8.236e-06 6:25669532 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 missense_variant 6.258451 0.98576 0.96138 0.487112 0.9989573 0 0.035946 FALSE NA ENSE00001974284_012 ENSE00001974284 012 6 25669677 25669846 + 62 57 51 A G 25669763 378 87 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACGGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669534 25669535 25669535 exon 25 0.4385965 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACGGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 551 113 0.9524049 0.9417425 0.9470737 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.1774172 0.1227245 0.8425391 0.7970028 NA 0.1500709 NA FALSE NA 1 1.683 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 4/9 1 NA CAG A,G 8.236e-06 6:25669535 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 missense_variant 1.10477 0.96693 0.76542 0.487112 0.9539588 0 0.035946 FALSE 8.1217e-06 ENSE00001974284_013 ENSE00001974284 013 6 25669677 25669846 + 62 57 51 A C 25669766 379 90 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCCGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669537 25669538 25669538 exon 28 0.4912281 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCCGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 36 183 1 0.9870822 0.9935411 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.2250123 0.1680642 0.8425391 0.7970028 NA 0.1965383 NA FALSE NA 1 6.785 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 4/9 1 NA CAG A,C 8.236e-06 6:25669538 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 missense_variant 6.023798 0.98375 0.96556 0.487112 0.9983376 0 0.035946 FALSE NA ENSE00001974284_014 ENSE00001974284 014 6 25669677 25669846 + 62 57 51 A C 25669780 380 104 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCCGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669551 25669552 25669552 exon -16 0.7368421 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCCGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 98 326 0 0.00098248 0.00049124 0.8411567 0.8439215 0.7749877 0.8190179 NA NA -0.7749877 -0.8180354 0.8425391 0.7970028 NA -0.7965116 NA TRUE NA 1 0.936 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 4/9 1 NA CAG A,C 8.236e-06 6:25669552 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 synonymous_variant -0.049934 0.95433 0.64877 0.487112 0.7103106 0 0.035946 FALSE 1.6245e-05 ENSE00001974284_016 ENSE00001974284 016 6 25669677 25669846 + 62 57 51 T G 25669786 382 110 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCGGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669557 25669558 25669558 exon -10 0.8421053 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCGGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 74 230 1 1 1 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.2250123 0.1809821 0.8425391 0.7970028 NA 0.2029972 NA FALSE NA 0.018 -1.228 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 4/9 rs564896838 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 CTG T,G 1.647e-05 6:25669558 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 synonymous_variant 0.891407 0.14767 0.01983 0.487112 0.5603473 0 0.035946 FALSE 8.12203e-06 ENSE00001974284_018 ENSE00001974284 018 6 25669677 25669846 + 62 57 51 G A 25669794 384 118 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCACGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669565 25669566 25669566 exon -2 0.9824561 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCACGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 248 30 0.9911667 0.9893074 0.9902371 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.216179 0.1702895 0.8425391 0.7970028 NA 0.1932343 NA FALSE NA 0 0.154 rs34286843 splice_region_variant&3_prime_UTR_variant LOW SCGN HGNC 16941 ENST00000334979 4/9 rs34286843 1 A:0.0042 A:0.0151 A:0.0014 NA A:0 A:0 A:0 A:0.0145 A:0 CGC G,A 0.001334 6:25669566 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 missense_variant 2.557303 0.15939 0.01753 0.487112 0.9868658 0 0.035946 FALSE 0.00107219 ENSE00001974284_019 ENSE00001974284 019 6 25669677 25669846 + 62 57 51 G C 25669796 385 120 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCCTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 25669567 25669568 25669568 downstr_intron 1 1.02 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCCTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 297 194 0 0 0 0.8411567 0.8439215 0.7749877 0.8190179 NA NA -0.7749877 -0.8190179 0.8425391 0.7970028 NA -0.7970028 NA TRUE NA 1 6.827 . splice_donor_variant HIGH SCGN HGNC 16941 ENST00000334979 4/8 1 NA HC CGT G,C 1.647e-05 6:25669568 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 splice_donor_variant 4.52467 0.98631 0.98466 0.053691 0.9950435 0.976145 0.035946 FALSE 2.43679e-05 ENSE00001974284_023 ENSE00001974284 023 6 25669677 25669846 + 62 57 51 T G 25669833 389 157 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCAGTGGGAATTTGATA 25669448 25669618 25669604 25669605 25669605 downstr_intron 38 1.76 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCAGTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 1107 529 0.7980744 0.8 0.7990372 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.02308676 -0.01901792 0.8425391 0.7970028 NA 0.002034418 NA FALSE NA 0 -0.712 NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:25669605 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 intron_variant 1.072556 0.23073 0.01511 0.053691 0.7692925 0.172027 0.035946 FALSE 8.14817e-06 ENSE00001974284_024 ENSE00001974284 024 6 25669677 25669846 + 62 57 51 G A 25669835 390 159 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTAGGAATTTGATA 25669448 25669618 25669606 25669607 25669607 downstr_intron 40 1.8 TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTAGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA mutant NA NA NA NA NA 252 38 0.8 0.8 0.8 0.8411567 0.8439215 0.7749877 0.8190179 NA NA 0.02501232 -0.01901792 0.8425391 0.7970028 NA 0.002997199 NA FALSE NA 0.367 0.913 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 4/8 1 NA TGG G,A 8.236e-06 6:25669607 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003535115 intron_variant 1.277128 0.16527 0.00441 0.053691 0.7846985 0.17359 0.035946 FALSE 4.07581e-06 ENSE00001974284_BRK ENSE00001974284 BRK 6 25669677 25669846 + 62 57 51 A,G; T,T NA NA NA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCTTATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCCCGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA 25669448 25669618 NA NA NA NA NA NA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCTTATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCCCGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA TACCACATAATTATTCCAAGTTATCTGAGGATAAATTAATTAGTGACTTTTGTGTATTTCAGATTTGGCGCAAATATGACGCTGACAGCAGTGGCTTTATATCAGCTGCTGAGCTCCGCGTGAGTGTCACTGGGTGAAGGGTGGGTTTGTTTATCATTGGGAATTTGATA control 31 106 0 0 0 NA NA NA NA NA 0.8411567 0.8439215 0.7749877 0.8190179 -0.8411567 -0.8439215 NA NA 0.8425391 0.7970028 -0.8425391 NA NA NA TRUE NA NA NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCGN NA NA NA ENSG00000079689 ENSE00003535115 NA NA NA NA NA NA NA 0.035946 FALSE NA ENSE00001986242_000 ENSE00001986242 000 6 25665126 25665295 + 45 90 35 NA NA NA NA NA GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG 25664897 25665067 NA NA NA NA NA NA GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG natural 97 76 0.9781524 0.9966745 0.9874135 6095 3575 0.91254 0.7966107 0.8545754 0.9781524 0.9966745 0.91254 0.7966107 0 0 0 0 0.9874135 0.8545754 0 0 0 FALSE FALSE NA NA NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCGN NA NA NA ENSG00000079689 ENSE00003650292 NA NA NA NA NA NA NA 0.035946 FALSE NA ENSE00001986242_001 ENSE00001986242 001 6 25665126 25665295 + 45 90 35 C G 25665143 343 18 GACACTGGCCAGTGTCCGTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG 25664897 25665067 25664914 25664915 25664915 upstr_intron -28 -0.6 GACACTGGCCAGTGTCCGTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG mutant NA NA NA NA NA 58 1506 1 0.9708883 0.9854441 0.9781524 0.9966745 0.91254 0.7966107 NA NA 0.08745995 0.1742776 0.9874135 0.8545754 NA 0.1308688 NA FALSE NA 0 -0.3 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/8 rs371929099 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 G:0.0002 G:0.0001 CCT C,G 0.0001812 6:25664915 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003650292 intron_variant 0.080745 0.18638 0.02966 0.06567 0.6649706 0.0945736 0.035946 FALSE 0.000176625 ENSE00001986242_005 ENSE00001986242 005 6 25665126 25665295 + 45 90 35 T G 25665156 347 31 GACACTGGCCAGTGTCCCTGACTGTTATTCGTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG 25664897 25665067 25664927 25664928 25664928 upstr_intron -15 -0.3111111 GACACTGGCCAGTGTCCCTGACTGTTATTCGTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG mutant NA NA NA NA NA 44 126 1 1 1 0.9781524 0.9966745 0.91254 0.7966107 NA NA 0.08745995 0.2033893 0.9874135 0.8545754 NA 0.1454246 NA FALSE NA 0 0.723 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/8 1 NA CTT T,G 1.647e-05 6:25664928 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003650292 intron_variant -0.135586 0.18095 0.06252 0.06567 0.6437698 0.0945736 0.035946 FALSE 1.63059e-05 ENSE00001986242_012 ENSE00001986242 012 6 25665126 25665295 + 45 90 35 C T 25665222 354 97 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCTGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG 25664897 25665067 25664993 25664994 25664994 exon -39 0.5777778 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCTGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG mutant NA NA NA NA NA 435 302 0.992387 0.9963807 0.9943839 0.9781524 0.9966745 0.91254 0.7966107 NA NA 0.079847 0.1997701 0.9874135 0.8545754 NA 0.1398085 NA FALSE NA 0.144 0.078 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 3/9 rs567158105&COSM1442531 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 CCG C,T 0.0001235 6:25664994 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003650292 missense_variant 2.337417 0.73841 0.15741 0.487112 0.6555955 0 0.035946 FALSE 0.000138092 ENSE00001986242_014 ENSE00001986242 014 6 25665126 25665295 + 45 90 35 T C 25665235 356 110 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACCGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG 25664897 25665067 25665006 25665007 25665007 exon -26 0.7222222 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACCGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG mutant NA NA NA NA NA 273 180 0.9914494 0.9991204 0.9952849 0.9781524 0.9966745 0.91254 0.7966107 NA NA 0.07890936 0.2025097 0.9874135 0.8545754 NA 0.1407095 NA FALSE NA 1 5.887 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 3/9 1 NA CTG T,C 8.236e-06 6:25665007 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003650292 missense_variant 4.475964 0.97514 0.91295 0.487112 0.9984629 0 0.035946 FALSE 8.12269e-06 ENSE00001986242_020 ENSE00001986242 020 6 25665126 25665295 + 45 90 35 T C 25665254 362 129 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTCATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG 25664897 25665067 25665025 25665026 25665026 exon -7 0.9333333 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTCATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG mutant NA NA NA NA NA 102 38 1 1 1 0.9781524 0.9966745 0.91254 0.7966107 NA NA 0.08745995 0.2033893 0.9874135 0.8545754 NA 0.1454246 NA FALSE NA 0.982 -0.29 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 3/9 1 NA TTA T,C 8.236e-06 6:25665026 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003650292 synonymous_variant -0.078832 0.95828 0.37728 0.487112 0.5800135 0 0.035946 FALSE 8.12493e-06 ENSE00001986242_021 ENSE00001986242 021 6 25665126 25665295 + 45 90 35 A G 25665264 363 139 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGGGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG 25664897 25665067 25665035 25665036 25665036 downstr_intron 4 1.117647 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGGGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG mutant NA NA NA NA NA 67 35 1 1 1 0.9781524 0.9966745 0.91254 0.7966107 NA NA 0.08745995 0.2033893 0.9874135 0.8545754 NA 0.1454246 NA FALSE NA 0.997 1.045 . splice_region_variant&intron_variant LOW SCGN HGNC 16941 ENST00000334979 3/8 1 NA GAG A,G 8.237e-06 6:25665036 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003650292 splice_region_variant 0.633974 0.96466 0.70995 0.061011 0.6323862 0.402232 0.035946 FALSE 4.06762e-06 ENSE00001986242_023 ENSE00001986242 023 6 25665126 25665295 + 45 90 35 C T 25665281 365 156 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTTTGTGAAGAAAGAGG 25664897 25665067 25665052 25665053 25665053 downstr_intron 21 1.617647 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTTTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG mutant NA NA NA NA NA 155 62 1 1 1 0.9781524 0.9966745 0.91254 0.7966107 NA NA 0.08745995 0.2033893 0.9874135 0.8545754 NA 0.1454246 NA FALSE NA 0 -1.369 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 3/8 1 NA TCT C,T 8.237e-06 6:25665053 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003650292 intron_variant -0.162046 0.12174 0.00684 0.061011 0.5675232 0.0697568 0.035946 FALSE 2.04432e-05 ENSE00001986242_024 ENSE00001986242 024 6 25665126 25665295 + 45 90 35 T C 25665282 366 157 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCCGTGAAGAAAGAGG 25664897 25665067 25665053 25665054 25665054 downstr_intron 22 1.647059 GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCCGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG mutant NA NA NA NA NA 690 484 1 1 1 0.9781524 0.9966745 0.91254 0.7966107 NA NA 0.08745995 0.2033893 0.9874135 0.8545754 NA 0.1454246 NA FALSE NA 0.002 0.908 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 3/8 1 NA CTG T,C 2.471e-05 6:25665054 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003650292 intron_variant 0.041001 0.16119 0.00706 0.061011 0.2808271 0.0697568 0.035946 FALSE 3.27024e-05 ENSE00001986242_BRK ENSE00001986242 BRK 6 25665126 25665295 + 45 90 35 A,G; T,T NA NA NA GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCTTCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGCCGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG 25664897 25665067 NA NA NA NA NA NA GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCTTCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGCCGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG GACACTGGCCAGTGTCCCTGACTGTTATTCTTTCTGTTCCTTCAGCTTGCTGGTATGTTCTTATCTGAGGATGAAAACTTTCTTCTGCTCTTTCGCCGGGAAAACCCACTGGACAGCAGCGTGGAGTTTATGCAGGTGAGTGCTTGGTTGTGTCTCTGTGAAGAAAGAGG control 46 10 0 0 0 NA NA NA NA NA 0.9781524 0.9966745 0.91254 0.7966107 -0.9781524 -0.9966745 NA NA 0.9874135 0.8545754 -0.9874135 NA NA NA TRUE NA NA NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCGN NA NA NA ENSG00000079689 ENSE00003650292 NA NA NA NA NA NA NA 0.035946 FALSE NA ENSE00001988838_000 ENSE00001988838 000 6 25661736 25661905 + 44 93 33 NA NA NA NA NA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 NA NA NA NA NA NA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA natural 157 150 0.9825785 0.9949532 0.9887658 5373 5498 0.983207 0.9752042 0.9792056 0.9825785 0.9949532 0.983207 0.9752042 0 0 0 0 0.9887658 0.9792056 0 0 0 FALSE FALSE NA NA NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCGN NA NA NA ENSG00000079689 ENSE00003474558 NA NA NA NA NA NA NA 0.035946 FALSE NA ENSE00001988838_001 ENSE00001988838 001 6 25661736 25661905 + 44 93 33 G A 25661756 314 21 TAGAGCCATGAAAAATACTGTCAGTAAAGTTACCTCTTTCATCCGAATGCGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCAAATTTGCTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGCCATATTAAAGCCACTGGAATCTC 25661507 25661677 25661527 25661528 25661528 upstr_intron -24 -0.5227273 GAGATTCCAGTGGCTTTAATATGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 222 658 1 1 1 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01679304 0.02479583 0.9887658 0.9792056 NA 0.02079444 NA FALSE NA 0 0.145 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 1/8 1 NA TGT G,A 8.237e-06 6:25661528 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant -0.133475 0.20541 0.02272 0.053691 0.7591152 0.1824 0.035946 FALSE 8.20587e-06 ENSE00001988838_002 ENSE00001988838 002 6 25661736 25661905 + 44 93 33 T C 25661757 315 22 TAGAGCCATGAAAAATACTGTCAGTAAAGTTACCTCTTTCATCCGAATGCGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCAAATTTGCTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGCCGCATTAAAGCCACTGGAATCTC 25661507 25661677 25661528 25661529 25661529 upstr_intron -23 -0.5 GAGATTCCAGTGGCTTTAATGCGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 168 59 0.9869765 1 0.9934882 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.003769496 0.02479583 0.9887658 0.9792056 NA 0.01428266 NA FALSE NA 0.001 0.137 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 1/8 rs373789332 1 NA C:0 C:0.0001 GTG T,C 8.237e-06 6:25661529 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant -0.252486 0.22966 0.04215 0.053691 0.5564507 0.1824 0.035946 FALSE 4.10024e-06 ENSE00001988838_003 ENSE00001988838 003 6 25661736 25661905 + 44 93 33 G A 25661759 316 24 TAGAGCCATGAAAAATACTGTCAGTAAAGTTACCTCTTTCATCCGAATGCGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCAAATTTGCTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGTCACATTAAAGCCACTGGAATCTC 25661507 25661677 25661530 25661531 25661531 upstr_intron -21 -0.4545455 GAGATTCCAGTGGCTTTAATGTGACTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 745 498 1 0.9928454 0.9964227 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01679304 0.01764127 0.9887658 0.9792056 NA 0.01721716 NA FALSE NA 0 -0.562 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 1/8 1 NA GGC G,A 1.647e-05 6:25661531 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant 0.02303 0.20469 0.01776 0.053691 0.6148304 0.1824 0.035946 FALSE NA ENSE00001988838_004 ENSE00001988838 004 6 25661736 25661905 + 44 93 33 G T 25661768 317 33 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTTGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661539 25661540 25661540 upstr_intron -12 -0.25 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTTGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 98 905 1 0.9977829 0.9988914 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01679304 0.02257872 0.9887658 0.9792056 NA 0.01968588 NA FALSE NA 0 0.048 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 1/8 rs368720517 1 NA T:0 T:0.0001 TGG G,T 1.647e-05 6:25661540 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant -0.222086 0.21268 0.01421 0.053691 0.5237537 0.149782 0.035946 FALSE 4.07834e-06 ENSE00001988838_005 ENSE00001988838 005 6 25661736 25661905 + 44 93 33 G C 25661769 318 34 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGCTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661540 25661541 25661541 upstr_intron -11 -0.2272727 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGCTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 1003 548 0.9970843 0.9997113 0.9983978 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01387733 0.02450712 0.9887658 0.9792056 NA 0.01919222 NA FALSE NA 0 -0.02 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 1/8 rs372242967 1 NA C:0 C:0.0001 GGT G,C 8.237e-06 6:25661541 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant -0.351979 0.20932 0.02438 0.053691 0.3771586 0.149458 0.035946 FALSE 4.07604e-06 ENSE00001988838_007 ENSE00001988838 007 6 25661736 25661905 + 44 93 33 C T 25661784 320 49 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACATGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661555 25661556 25661556 exon 5 0.05376344 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACATGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 83 482 0.9995031 0.9834018 0.9914524 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01629616 0.008197601 0.9887658 0.9792056 NA 0.01224688 NA FALSE NA 0 0.821 . synonymous_variant LOW SCGN HGNC 16941 ENST00000334979 2/9 1 NA ACG C,T 3.295e-05 6:25661556 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant 1.274279 0.29272 0.04605 0.487112 0.8135018 0 0.035946 FALSE 3.25669e-05 ENSE00001988838_008 ENSE00001988838 008 6 25661736 25661905 + 44 93 33 A C 25661789 321 54 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCCTGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661560 25661561 25661561 exon 10 0.1075269 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCCTGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 580 79 0.9739803 0.9979928 0.9859865 0.9825785 0.9949532 0.983207 0.9752042 NA NA -0.00922664 0.02278859 0.9887658 0.9792056 NA 0.006780976 NA FALSE NA 0.143 0.663 . missense_variant MODERATE SCGN HGNC 16941 ENST00000334979 2/9 1 deleterious_low_confidence(0.03) benign(0.412) NA CAT A,C 8.237e-06 6:25661561 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant -0.239029 0.74766 0.0873 0.487112 0.643747 0 0.035946 FALSE 4.06636e-06 ENSE00001988838_009 ENSE00001988838 009 6 25661736 25661905 + 44 93 33 G A 25661795 322 60 TAGAGCCATGAAAAATACTGTCAGTAAAGTTACCTCTTTCATCCGAATGCGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCAAATTTGTTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGCCACATTAAAGCCACTGGAATCTC 25661507 25661677 25661566 25661567 25661567 exon 16 0.172043 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAACAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 113 1104 1 0.9964584 0.9982292 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01679304 0.0212542 0.9887658 0.9792056 NA 0.01902362 NA FALSE NA 1 3.072 rs148531052 missense_variant MODERATE SCGN HGNC 16941 ENST00000334979 2/9 rs148531052 1 deleterious_low_confidence(0) benign(0.393) NA A:0.0002 A:0 AGC G,A 8.237e-06 6:25661567 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant 1.380807 0.93964 0.55581 0.487112 0.9480597 0 0.035946 FALSE 8.1355e-06 ENSE00001988838_010 ENSE00001988838 010 6 25661736 25661905 + 44 93 33 A G 25661797 323 62 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCGAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661568 25661569 25661569 exon 18 0.1935484 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCGAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 2317 1477 1 0.9865797 0.9932898 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01679304 0.01137548 0.9887658 0.9792056 NA 0.01408426 NA FALSE NA 0.995 1.626 . missense_variant MODERATE SCGN HGNC 16941 ENST00000334979 2/9 rs369586993 1 tolerated_low_confidence(0.29) benign(0.001) NA G:0 G:0.0001 CAA A,G 8.237e-06 6:25661569 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant -0.265699 0.8352 0.28526 0.487112 0.565168 0 0.035946 FALSE 4.06504e-06 ENSE00001988838_011 ENSE00001988838 011 6 25661736 25661905 + 44 93 33 T A 25661801 324 66 TAGAGCCATGAAAAATACTGTCAGTAAAGTTACCTCTTTCATCCGAATGCGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCATATTTGCTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGCCACATTAAAGCCACTGGAATCTC 25661507 25661677 25661572 25661573 25661573 exon 22 0.2365591 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATATGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 175 143 1 0.9907053 0.9953527 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01679304 0.01550117 0.9887658 0.9792056 NA 0.01614711 NA FALSE NA 0.63 0.403 . missense_variant MODERATE SCGN HGNC 16941 ENST00000334979 2/9 rs555716689 1 tolerated_low_confidence(0.8) benign(0) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TTT T,A 8.237e-06 6:25661573 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant -0.731472 0.18306 0.01703 0.487112 0.8146135 0 0.035946 FALSE 4.06517e-06 ENSE00001988838_012 ENSE00001988838 012 6 25661736 25661905 + 44 93 33 A G 25661807 325 72 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACGAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661578 25661579 25661579 exon 28 0.3010753 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACGAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 1575 3390 0.9996818 0.998259 0.9989704 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01647486 0.02305486 0.9887658 0.9792056 NA 0.01976486 NA FALSE NA 0.652 1.22 . missense_variant MODERATE SCGN HGNC 16941 ENST00000334979 2/9 1 deleterious_low_confidence(0) benign(0.151) NA CAA A,G 8.237e-06 6:25661579 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant -1.189037 0.28961 0.04964 0.487112 0.6769015 0 0.035946 FALSE 4.06464e-06 ENSE00001988838_014 ENSE00001988838 014 6 25661736 25661905 + 44 93 33 C G 25661842 327 107 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCGTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661613 25661614 25661614 exon -31 0.6774194 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCGTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 2392 804 0.9994012 0.9982176 0.9988094 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01619421 0.02301344 0.9887658 0.9792056 NA 0.01960382 NA FALSE NA 0.403 0.573 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:25661614 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant -0.078739 0.21062 0.12361 0.487112 0.6673342 0 0.035946 FALSE 4.87678e-05 ENSE00001988838_015 ENSE00001988838 015 6 25661736 25661905 + 44 93 33 C T 25661842 328 107 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCTTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661613 25661614 25661614 exon -31 0.6774194 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCTTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 962 2053 0.9871696 0.9978964 0.992533 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.003962641 0.02269226 0.9887658 0.9792056 NA 0.01332745 NA FALSE NA 0.403 0.573 NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCGN NA NA NA ENSG00000079689 ENSE00003474558 missense_variant 0.231099 0.19642 0.0788 0.487112 0.8075066 0 0.035946 FALSE 1.2192e-05 ENSE00001988838_016 ENSE00001988838 016 6 25661736 25661905 + 44 93 33 A T 25661850 329 115 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGTTGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661621 25661622 25661622 exon -23 0.7634409 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGTTGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 1493 695 0.998869 1 0.9994345 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01566208 0.02479583 0.9887658 0.9792056 NA 0.02022896 NA FALSE NA 1 3.758 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/9 1 NA GAT A,T 8.236e-06 6:25661622 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant 2.49942 0.9368 0.61428 0.487112 0.9889432 0 0.035946 FALSE 4.06445e-06 ENSE00001988838_018 ENSE00001988838 018 6 25661736 25661905 + 44 93 33 G A 25661856 331 121 TAGAGCCATGAAAAATACTGTCAGTAAAGTTACCTCTTTCATCCGAATGTGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCAAATTTGCTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGCCACATTAAAGCCACTGGAATCTC 25661507 25661677 25661627 25661628 25661628 exon -17 0.827957 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCACATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 335 3902 0.9988366 0.9983164 0.9985765 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01562965 0.02311219 0.9887658 0.9792056 NA 0.01937092 NA FALSE NA 0.001 0.078 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:25661628 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant 0.542235 0.18854 0.02168 0.487112 0.8904834 0 0.035946 FALSE 0.000146424 ENSE00001988838_019 ENSE00001988838 019 6 25661736 25661905 + 44 93 33 G T 25661856 332 121 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCTCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661627 25661628 25661628 exon -17 0.827957 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCTCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 255 1850 0.9963745 0.9973345 0.9968545 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01316751 0.02213035 0.9887658 0.9792056 NA 0.01764893 NA FALSE NA 0.001 0.078 NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCGN NA NA NA ENSG00000079689 ENSE00003474558 missense_variant 1.668692 0.21451 0.04029 0.487112 0.9286736 0 0.035946 FALSE 4.06732e-06 ENSE00001988838_020 ENSE00001988838 020 6 25661736 25661905 + 44 93 33 C T 25661861 333 126 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTTGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661632 25661633 25661633 exon -12 0.8817204 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTTGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 679 352 0.8665871 1 0.9332936 0.9825785 0.9949532 0.983207 0.9752042 NA NA -0.1166198 0.02479583 0.9887658 0.9792056 NA -0.04591201 NA FALSE NA 0.063 1.574 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/9 rs199795137 1 T:0.0034 T:0 T:0.0014 NA T:0.001 T:0 T:0.0153 T:0 T:0.0008 TCG C,T 0.002183 6:25661633 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant 3.528694 0.34025 0.0785 0.487112 0.9860204 0 0.035946 FALSE 0.00185889 ENSE00001988838_021 ENSE00001988838 021 6 25661736 25661905 + 44 93 33 G C 25661862 334 127 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCCGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661633 25661634 25661634 exon -11 0.8924731 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCCGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 2100 554 0.9297725 0.9892509 0.9595117 0.9825785 0.9949532 0.983207 0.9752042 NA NA -0.0534345 0.01404674 0.9887658 0.9792056 NA -0.01969388 NA FALSE NA 0.073 0.122 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/9 1 NA CGG G,C 8.236e-06 6:25661634 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant 0.682921 0.31604 0.02582 0.487112 0.7992817 0 0.035946 FALSE 4.07053e-06 ENSE00001988838_022 ENSE00001988838 022 6 25661736 25661905 + 44 93 33 T C 25661865 335 130 TAGAGCCATGAAAAATACTGTCAGTAAAGTTACCTCTTTCGTCCGAATGCGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCAAATTTGCTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGCCACATTAAAGCCACTGGAATCTC 25661507 25661677 25661636 25661637 25661637 exon -8 0.9247312 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGACGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 831 1680 0.9974466 0.9988822 0.9981644 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01423967 0.02367805 0.9887658 0.9792056 NA 0.01895886 NA FALSE NA 1 4.72 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/9 1 NA ATG T,C 8.236e-06 6:25661637 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant 2.405747 0.93593 0.64736 0.487112 0.971383 0 0.035946 FALSE 8.13431e-06 ENSE00001988838_023 ENSE00001988838 023 6 25661736 25661905 + 44 93 33 G A 25661866 336 131 TAGAGCCATGAAAAATACTGTCAGTAAAGTTACCTCTTTTATCCGAATGCGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCAAATTTGCTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGCCACATTAAAGCCACTGGAATCTC 25661507 25661677 25661637 25661638 25661638 exon -7 0.9354839 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATAAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 210 856 1 0.9802841 0.9901421 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01679304 0.005079934 0.9887658 0.9792056 NA 0.01093649 NA FALSE NA 1 1.271 . 3_prime_UTR_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/9 COSM3623320 1 NA TGA G,A 8.236e-06 6:25661638 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 missense_variant 0.162701 0.88884 0.28278 0.487112 0.7804544 0 0.035946 FALSE NA ENSE00001988838_025 ENSE00001988838 025 6 25661736 25661905 + 44 93 33 C T 25661882 338 147 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTATTGACAGTATTTTTCATGGCTCTA 25661507 25661677 25661653 25661654 25661654 downstr_intron 10 1.3125 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTATTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 3687 739 0.9740387 0.9997859 0.9869123 0.9825785 0.9949532 0.983207 0.9752042 NA NA -0.009168273 0.02458176 0.9887658 0.9792056 NA 0.007706743 NA FALSE NA 0 -1.895 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/8 rs377374396 1 NA T:0.0002 T:0.0001 ACT C,T 2.471e-05 6:25661654 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant 0.059615 0.19318 0.00613 0.053691 0.5897547 0.106137 0.035946 FALSE 2.03543e-05 ENSE00001988838_026 ENSE00001988838 026 6 25661736 25661905 + 44 93 33 C T 25661886 339 151 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGATAGTATTTTTCATGGCTCTA 25661507 25661677 25661657 25661658 25661658 downstr_intron 14 1.4375 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGATAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 1418 2398 0.9996512 0.9986879 0.9991696 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01644426 0.02348376 0.9887658 0.9792056 NA 0.01996401 NA FALSE NA 0.016 1.299 . intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/8 1 NA ACA C,T 1.647e-05 6:25661658 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant 0.256225 0.21654 0.06774 0.053691 0.5745131 0.107368 0.035946 FALSE 8.14697e-06 ENSE00001988838_027 ENSE00001988838 027 6 25661736 25661905 + 44 93 33 A T 25661887 340 152 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACTGTATTTTTCATGGCTCTA 25661507 25661677 25661658 25661659 25661659 downstr_intron 15 1.46875 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACTGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 1830 314 0.9979583 0.9953857 0.996672 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01475135 0.02018157 0.9887658 0.9792056 NA 0.01746646 NA FALSE NA 0.002 -0.479 rs2072847 intron_variant MODIFIER SCGN HGNC 16941 ENST00000334979 2/8 rs2072847 1 T:0.2812 T:0.2821 T:0.2925 NA T:0.244 T:0.2853 T:0.3057 T:0.2985 T:0.2792 CAG T,T 0.269 6:25661659 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant -0.236043 0.09898 0.00095 0.053691 0.3672982 0.107368 0.035946 FALSE 0.266345 ENSE00001988838_029 ENSE00001988838 029 6 25661736 25661905 + 44 93 33 G A 25661888 342 153 TAGAGCCATGAAAAATATTGTCAGTAAAGTTACCTCTTTCATCCGAATGCGACCATCTTTAGAGGCATCTTGGGTAGTCATAAACTGCTGTTTCACCTTGTGCAAATTTGCTTTCATGACCGTGTCCTGCAATTGACCAAACAGAGCCACATTAAAGCCACTGGAATCTC 25661507 25661677 25661659 25661660 25661660 downstr_intron 16 1.5 GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAATATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA mutant NA NA NA NA NA 2137 950 0.9995671 1 0.9997835 0.9825785 0.9949532 0.983207 0.9752042 NA NA 0.01636014 0.02479583 0.9887658 0.9792056 NA 0.02057798 NA FALSE NA 0.001 0.118 NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:25661660 SCGN HGNC Symbol protein_coding 49582 ENSG00000079689 ENSE00003474558 intron_variant -0.131929 0.19064 0.01322 0.053691 0.5852301 0.107368 0.035946 FALSE 8.15588e-06 ENSE00001988838_BRK ENSE00001988838 BRK 6 25661736 25661905 + 44 93 33 A,G; T,T NA NA NA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCTTGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGCCAACTTTACTGACAGTATTTTTCATGGCTCTA 25661507 25661677 NA NA NA NA NA NA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCTTGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGCCAACTTTACTGACAGTATTTTTCATGGCTCTA GAGATTCCAGTGGCTTTAATGTGGCTCTGTTTGGTCAATTGCAGGACACGGTCATGAAAGCAAATTTGCACAAGGTGAAACAGCAGTTTATGACTACCCAAGATGCCTCTAAAGATGGTCGCATTCGGATGAAAGAGGTAACTTTACTGACAGTATTTTTCATGGCTCTA control 90 251 0 0 0 NA NA NA NA NA 0.9825785 0.9949532 0.983207 0.9752042 -0.9825785 -0.9949532 NA NA 0.9887658 0.9792056 -0.9887658 NA NA NA TRUE NA NA NA NA NA SCGN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SCGN NA NA NA ENSG00000079689 ENSE00003474558 NA NA NA NA NA NA NA 0.035946 FALSE NA ENSE00001991862_000 ENSE00001991862 000 6 10891690 10891859 + 56 69 45 NA NA NA NA NA GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACATGTTTTTATTCCACACAGAAAAACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT 10891456 10891626 NA NA NA NA NA NA GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACATGTTTTTATTCCACACAGAAAAACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACATGTTTTTATTCCACACAGAAAAACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT natural NA NA NA NA NA 729 2310 0.95746 0.8612604 0.9093602 NA NA 0.95746 0.8612604 NA NA 0 0 NA 0.9093602 NA 0 NA FALSE NA NA NA NA NA NA SYCP2L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYCP2L NA NA NA ENSG00000153157 ENSE00003579113 NA NA NA NA NA NA NA 4.344139e-11 FALSE NA ENSE00002034161_000 ENSE00002034161 000 2 27825289 27825458 + 41 99 30 NA NA NA NA NA CAGAAGGAATTGCTGTCCTTGGGCCCTTACCTCACGCATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 NA NA NA NA NA NA TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG natural 53 84 0.85 0.8368197 0.8434098 643 861 0.7811448 0.8067567 0.7939508 0.85 0.8368197 0.7811448 0.8067567 0 0 0 0 0.8434098 0.7939508 0 0 0 FALSE FALSE NA NA NA NA NA ZNF512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF512 NA NA NA ENSG00000243943 ENSE00003514025 NA NA NA NA NA NA NA 0.949147 TRUE NA ENSE00002034161_BRK ENSE00002034161 BRK 2 27825289 27825458 + 41 99 30 A,G; T,T NA NA NA CAGAAGGAATTGCTGTCCTTGGGCCCTTGGCTCACGCATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGAAAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 NA NA NA NA NA NA TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTTTCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGCCAAGGGCCCAAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG control 354 190 0 0.1072108 0.05360539 NA NA NA NA NA 0.85 0.8368197 0.7811448 0.8067567 -0.85 -0.7296089 NA NA 0.8434098 0.7939508 -0.7898044 NA NA NA TRUE NA NA NA NA NA ZNF512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF512 NA NA NA ENSG00000243943 ENSE00003514025 NA NA NA NA NA NA NA 0.949147 TRUE NA ENSE00002041308_000 ENSE00002041308 000 2 27824176 27824345 + 47 87 36 NA NA NA NA NA GTTTCTCTGTGGAACAACCTAGCACTGAGCAGTATTTTTCCTTCTAGGAAATGTTTACTTGTCATCATTGTGGGAAACAACTTCGTTCACTGGCAGGGATGAAGTATCATGTCATGGCAAATCATAATAGTTTGGTAAGAGTGTCTTCTGTCTTTTGTGAGTGTTTGGAT 27601308 27601478 NA NA NA NA NA NA GTTTCTCTGTGGAACAACCTAGCACTGAGCAGTATTTTTCCTTCTAGGAAATGTTTACTTGTCATCATTGTGGGAAACAACTTCGTTCACTGGCAGGGATGAAGTATCATGTCATGGCAAATCATAATAGTTTGGTAAGAGTGTCTTCTGTCTTTTGTGAGTGTTTGGAT GTTTCTCTGTGGAACAACCTAGCACTGAGCAGTATTTTTCCTTCTAGGAAATGTTTACTTGTCATCATTGTGGGAAACAACTTCGTTCACTGGCAGGGATGAAGTATCATGTCATGGCAAATCATAATAGTTTGGTAAGAGTGTCTTCTGTCTTTTGTGAGTGTTTGGAT natural 23 44 0.9755724 0.85 0.9127862 1058 515 0.9819498 0.993773 0.9878614 0.9755724 0.85 0.9819498 0.993773 0 0 0 0 0.9127862 0.9878614 0 0 0 FALSE FALSE NA NA NA NA NA ZNF512 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF512 NA NA NA ENSG00000243943 ENSE00003511102 NA NA NA NA NA NA NA 0.949147 TRUE NA ENSE00002041375_000 ENSE00002041375 000 7 72470254 72470423 - 30 99 41 NA NA NA NA NA TTGGTCTTATTTCCATTCTCTTGGTTTTCCCTCCTCACCAGCACCGAGAAGTCCGCGTGAAGTGCGTGAAGGCTCTGAAAGGGCTGTACGGTAACCGGGACCTGACCGCACGCCTGGAGCTCTTCACTGGCTGCTTCAAGGTGAGACAGGTGGTGCTCCTTGGCTTGGCT 72999730 72999900 NA NA NA NA NA NA TTGGTCTTATTTCCATTCTCTTGGTTTTCCCTCCTCACCAGCACCGAGAAGTCCGCGTGAAGTGCGTGAAGGCTCTGAAAGGGCTGTACGGTAACCGGGACCTGACCGCACGCCTGGAGCTCTTCACTGGCTGCTTCAAGGTGAGACAGGTGGTGCTCCTTGGCTTGGCT TTGGTCTTATTTCCATTCTCTTGGTTTTCCCTCCTCACCAGCACCGAGAAGTCCGCGTGAAGTGCGTGAAGGCTCTGAAAGGGCTGTACGGTAACCGGGACCTGACCGCACGCCTGGAGCTCTTCACTGGCTGCTTCAAGGTGAGACAGGTGGTGCTCCTTGGCTTGGCT natural NA NA NA NA NA 757 299 0.997445 0.993599 0.995522 NA NA 0.997445 0.993599 NA NA 0 0 NA 0.995522 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA NA NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00002062015_000 ENSE00002062015 000 6 166845854 166846023 - 35 90 45 NA NA NA NA NA GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 NA NA NA NA NA NA AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC natural 22 39 0.997862 0.9922444 0.9950532 1474 2900 0.9876322 0.8486671 0.9181496 0.997862 0.9922444 0.9876322 0.8486671 0 0 0 0 0.9950532 0.9181496 0 0 0 FALSE FALSE NA NA NA NA NA RPS6KA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS6KA2 NA NA NA ENSG00000071242 ENSE00002062015 NA NA NA NA NA NA NA 0.08470089 FALSE NA ENSE00002062015_001 ENSE00002062015 001 6 166845854 166846023 - 35 90 45 C T 166845875 2814 149 GGAAGTGGAGATGCTGTTGCATGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432386 166432387 166432387 downstr_intron 14 1.411765 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCATGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 615 673 0.9995306 0.9907227 0.9951267 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.01189845 0.1420556 0.9950532 0.9181496 NA 0.07697704 NA FALSE NA 0 -0.886 . intron_variant MODIFIER RPS6KA2 HGNC 10431 ENST00000481261 15/20 rs372781922 1 NA T:0 T:0.0001 ACG C,T 1.647e-05 6:166432387 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 intron_variant -0.233793 0.13272 0.00496 0.062308 0.4125359 0.0541258 0.08470089 FALSE NA ENSE00002062015_002 ENSE00002062015 002 6 166845854 166846023 - 35 90 45 G A 166845876 2815 148 GGAAGTGGAGATGCTGTTGCACAGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432387 166432388 166432388 downstr_intron 13 1.382353 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCTGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 963 37 0.9964804 1 0.9982402 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.008848252 0.1513329 0.9950532 0.9181496 NA 0.08009059 NA FALSE NA 0 -2.336 . intron_variant MODIFIER RPS6KA2 HGNC 10431 ENST00000481261 15/20 rs377000354 1 NA A:0.0002 A:0 CGG G,A 4.942e-05 6:166432388 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 intron_variant -0.177074 0.13661 0.02307 0.062308 0.4683059 0.0541258 0.08470089 FALSE 2.88465e-05 ENSE00002062015_004 ENSE00002062015 004 6 166845854 166846023 - 35 90 45 C T 166845910 2817 114 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTTGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432421 166432422 166432422 exon -22 0.7666667 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCAAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 300 836 1 0.9967703 0.9983851 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.0123678 0.1481032 0.9950532 0.9181496 NA 0.08023549 NA FALSE NA 0 -2.762 . synonymous_variant LOW RPS6KA2 HGNC 10431 ENST00000481261 15/21 rs375364710 1 NA T:0.0002 T:0 TCG C,T 7.413e-05 6:166432422 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 synonymous_variant 2.197526 0.93764 0.04616 0.706298 0.6915869 0 0.08470089 FALSE 5.29079e-05 ENSE00002062015_005 ENSE00002062015 005 6 166845854 166846023 - 35 90 45 G A 166845911 2818 113 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCAGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432422 166432423 166432423 exon -23 0.7555556 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCTGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 366 1565 0.9950955 0.9960865 0.995591 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.007463304 0.1474194 0.9950532 0.9181496 NA 0.07744135 NA FALSE NA 1 8.886 . missense_variant MODERATE RPS6KA2 HGNC 10431 ENST00000481261 15/21 1 deleterious(0) benign(0.37) NA CGG G,A 8.236e-06 6:166432423 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 missense_variant 7.204291 0.99318 0.98452 0.706298 0.9975208 0 0.08470089 FALSE 4.06812e-06 ENSE00002062015_006 ENSE00002062015 006 6 166845854 166846023 - 35 90 45 G A 166845922 2819 102 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCATACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432433 166432434 166432434 exon -34 0.6333333 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTATGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 413 214 0.9992571 1 0.9996285 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.01162489 0.1513329 0.9950532 0.9181496 NA 0.08147891 NA FALSE NA 0.945 -0.007 rs117157669 synonymous_variant LOW RPS6KA2 HGNC 10431 ENST00000481261 15/21 rs117157669 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 3.295e-05 6:166432434 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 synonymous_variant 0.916552 0.96149 0.5566 0.706298 0.5148707 0 0.08470089 FALSE 2.44021e-05 ENSE00002062015_007 ENSE00002062015 007 6 166845854 166846023 - 35 90 45 C T 166845949 2820 75 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCTGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432460 166432461 166432461 exon 30 0.3333333 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCAGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 131 153 0.9929055 0.988456 0.9906807 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.005273319 0.1397889 0.9950532 0.9181496 NA 0.0725311 NA FALSE NA 0.002 -1.953 . synonymous_variant LOW RPS6KA2 HGNC 10431 ENST00000481261 15/21 rs564998266 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCG C,T 2.471e-05 6:166432461 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 synonymous_variant 2.441968 0.95839 0.07695 0.706298 0.6893799 0 0.08470089 FALSE 2.84604e-05 ENSE00002062015_009 ENSE00002062015 009 6 166845854 166846023 - 35 90 45 C G 166845961 2822 63 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTGTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432472 166432473 166432473 exon 18 0.2 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAACAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 15 363 0.95 0.9945744 0.9722872 0.997862 0.9922444 0.9876322 0.8486671 NA NA -0.0376322 0.1459073 0.9950532 0.9181496 NA 0.05413754 NA FALSE NA 0.016 -0.23 . missense_variant MODERATE RPS6KA2 HGNC 10431 ENST00000481261 15/21 rs369131300 1 deleterious(0.03) benign(0.084) NA G:0.0002 G:0 TCT C,G 8.236e-06 6:166432473 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 missense_variant 2.95402 0.9651 0.19462 0.706298 0.9894 0 0.08470089 FALSE 4.06769e-06 ENSE00002062015_010 ENSE00002062015 010 6 166845854 166846023 - 35 90 45 T C 166845962 2823 62 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCCTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432473 166432474 166432474 exon 17 0.1888889 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAGGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 36 826 1 0.9982241 0.9991121 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.0123678 0.1495571 0.9950532 0.9181496 NA 0.08096243 NA FALSE NA 0.995 2.908 . missense_variant MODERATE RPS6KA2 HGNC 10431 ENST00000481261 15/21 1 tolerated(0.38) benign(0.025) NA CTT T,C 8.236e-06 6:166432474 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 missense_variant 1.964472 0.97329 0.85144 0.706298 0.9932028 0 0.08470089 FALSE 4.06795e-06 ENSE00002062015_011 ENSE00002062015 011 6 166845854 166846023 - 35 90 45 G T 166845964 2824 60 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTTCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432475 166432476 166432476 exon 15 0.1666667 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGAAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 897 348 0.9663967 0.9842259 0.9753113 0.997862 0.9922444 0.9876322 0.8486671 NA NA -0.02123553 0.1355589 0.9950532 0.9181496 NA 0.05716167 NA FALSE NA 0.939 -0.127 . missense_variant MODERATE RPS6KA2 HGNC 10431 ENST00000481261 15/21 1 tolerated(0.45) benign(0.016) NA TGC G,T 1.647e-05 6:166432476 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 missense_variant 1.5364 0.96275 0.70948 0.706298 0.9103253 0 0.08470089 FALSE 1.6277e-05 ENSE00002062015_012 ENSE00002062015 012 6 166845854 166846023 - 35 90 45 A G 166845974 2825 50 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAGTGATCTGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432485 166432486 166432486 exon 5 0.05555556 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCACTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 697 1638 0.8321825 0.9928911 0.9125368 0.997862 0.9922444 0.9876322 0.8486671 NA NA -0.1554497 0.144224 0.9950532 0.9181496 NA -0.005612825 NA FALSE NA 1 8.414 . missense_variant MODERATE RPS6KA2 HGNC 10431 ENST00000481261 15/21 1 deleterious(0) probably_damaging(0.918) NA AAT A,G 8.236e-06 6:166432486 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 missense_variant 6.334693 0.99087 0.98264 0.706298 0.9948107 0 0.08470089 FALSE 4.07531e-06 ENSE00002062015_014 ENSE00002062015 014 6 166845854 166846023 - 35 90 45 C T 166845989 2827 35 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAATACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432500 166432501 166432501 upstr_intron -11 -0.2222222 AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTATTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 823 1121 0.9985408 0.99611 0.9973254 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.01090859 0.1474429 0.9950532 0.9181496 NA 0.07917577 NA FALSE NA 0 -0.744 . intron_variant MODIFIER RPS6KA2 HGNC 10431 ENST00000481261 14/20 rs372719997 1 NA T:0 T:0.0002 ACA C,T 4.942e-05 6:166432501 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 intron_variant 1.032133 0.13986 0.01809 0.062308 0.8379007 0.0532412 0.08470089 FALSE 2.45596e-05 ENSE00002062015_015 ENSE00002062015 015 6 166845854 166846023 - 35 90 45 C G 166845994 2828 30 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGGACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 166432505 166432506 166432506 upstr_intron -16 -0.3333333 AGCCTAAAGTAGACCCCTCACTGCCATGTCCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 31 1346 1 1 1 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.0123678 0.1513329 0.9950532 0.9181496 NA 0.08185037 NA FALSE NA 0 -1.674 . intron_variant MODIFIER RPS6KA2 HGNC 10431 ENST00000481261 14/20 1 NA GCA C,G 8.236e-06 6:166432506 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 intron_variant -0.273603 0.12046 0.0037 0.062308 0.4910728 0.046875 0.08470089 FALSE 4.11063e-06 ENSE00002062015_018 ENSE00002062015 018 6 166845854 166846023 - 35 90 45 G A 166846007 2831 17 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAAGGGTCTACTTTAGGCT 166432365 166432535 166432518 166432519 166432519 upstr_intron -29 -0.6222222 AGCCTAAAGTAGACCCTTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 1257 1056 0.9486366 0.9988 0.9737183 0.997862 0.9922444 0.9876322 0.8486671 NA NA -0.03899559 0.1501329 0.9950532 0.9181496 NA 0.05556866 NA FALSE NA 0 0.096 . intron_variant MODIFIER RPS6KA2 HGNC 10431 ENST00000481261 14/20 1 NA AGG G,A 2.471e-05 6:166432519 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 intron_variant 0.144863 0.1947 0.01176 0.062308 0.4643202 0.046323 0.08470089 FALSE 1.25857e-05 ENSE00002062015_019 ENSE00002062015 019 6 166845854 166846023 - 35 90 45 G A 166846009 2832 15 GGAAGTGGAGATGCTGTTGCACGGGGACCACTCACATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATCTGGAACAAACACAGCACATGGCAGTGAGGAGTCTACTTTAGGCT 166432365 166432535 166432520 166432521 166432521 upstr_intron -31 -0.6666667 AGCCTAAAGTAGACTCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC mutant NA NA NA NA NA 258 775 1 0.9526253 0.9763126 0.997862 0.9922444 0.9876322 0.8486671 NA NA 0.0123678 0.1039582 0.9950532 0.9181496 NA 0.058163 NA FALSE NA 0 0.486 . intron_variant MODIFIER RPS6KA2 HGNC 10431 ENST00000481261 14/20 1 NA GGG G,A 5.766e-05 6:166432521 RPS6KA2 HGNC Symbol protein_coding 497087 ENSG00000071242 ENSE00002062015 intron_variant 0.012835 0.13089 0.01909 0.062308 0.4598831 0.046323 0.08470089 FALSE 4.65916e-05 ENSE00002062015_BRK ENSE00002062015 BRK 6 166845854 166846023 - 35 90 45 A,G; T,T NA NA NA GGAAGTGGAGATGCTGTTGCACGGGGACCACTCGGATCCTTGAGGGTGATGATGTTCGGGTGCTGGCCGTACCGCAGGAGGATCTCAATCTCTTCCGAGGGGTCTCTCTTGCTCTTATCAATGATAAGGAACAAACACAGCACATGGCAGTGAGGGGTCTACTTTAGGCT 166432365 166432535 NA NA NA NA NA NA AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCTTATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATCCGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC AGCCTAAAGTAGACCCCTCACTGCCATGTGCTGTGTTTGTTCCAGATCATTGATAAGAGCAAGAGAGACCCCTCGGAAGAGATTGAGATCCTCCTGCGGTACGGCCAGCACCCGAACATCATCACCCTCAAGGATGTGAGTGGTCCCCGTGCAACAGCATCTCCACTTCC control 26 34 0.1430044 0.2964191 0.2197117 NA NA NA NA NA 0.997862 0.9922444 0.9876322 0.8486671 -0.8548576 -0.6958253 NA NA 0.9950532 0.9181496 -0.7753414 NA NA NA TRUE NA NA NA NA NA RPS6KA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPS6KA2 NA NA NA ENSG00000071242 ENSE00002062015 NA NA NA NA NA NA NA 0.08470089 FALSE NA ENSE00002084171_000 ENSE00002084171 000 3 15515445 15515614 - 62 36 72 NA NA NA NA NA TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGAAATCCTGGGAAACCCTGTGAAAAGAGCAACAAATAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 NA NA NA NA NA NA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA natural NA NA NA NA NA 1762 1755 0.9661178 0.9553695 0.9607436 NA NA 0.9661178 0.9553695 NA NA 0 0 NA 0.9607436 NA 0 NA FALSE NA NA NA NA NA NA COLQ NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COLQ NA NA NA ENSG00000206561 ENSE00002084171 NA NA NA NA NA NA NA 1.425173e-07 FALSE NA ENSE00002084171_001 ENSE00002084171 001 3 15515445 15515614 - 62 36 72 A G 15515458 328 157 TTGTGCTTGGAGGGCCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGAAATCCTGGGAAACCCTGTGAAAAGAGCAACAAATAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15473950 15473951 15473951 downstr_intron 49 1.803279 ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGCCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 174 194 1 0.9998036 0.9999018 NA NA 0.9661178 0.9553695 NA NA 0.0338822 0.04443409 NA 0.9607436 NA 0.03915815 NA FALSE NA 0 -1.462 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 rs530588749 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GAC A,G 8.237e-06 3:15473951 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 intron_variant 0.280771 0.11292 0.00092 0.074636 0.7872555 0.0645858 1.425173e-07 FALSE 4.10236e-06 ENSE00002084171_008 ENSE00002084171 008 3 15515445 15515614 - 62 36 72 G T 15515498 335 117 TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGTTTACTTACTTTCTGCCCCAACATTCCAGGAAATCCTGGGAAACCCTGTGAAAAGAGCAACAAATAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15473990 15473991 15473991 downstr_intron 9 1.147541 ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAAACTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 298 40 0.9455624 0.95 0.9477812 NA NA 0.9661178 0.9553695 NA NA -0.02055539 -0.0053695 NA 0.9607436 NA -0.01296244 NA FALSE NA 0.184 0.746 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 rs550652028 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GGT G,T 1.647e-05 3:15473991 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 intron_variant 2.012027 0.77219 0.44289 0.074636 0.8616013 0.51061 1.425173e-07 FALSE 8.12764e-06 ENSE00002084171_011 ENSE00002084171 011 3 15515445 15515614 - 62 36 72 A T 15515529 338 86 TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGATATCCTGGGAAACCCTGTGAAAAGAGCAACAAATAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15474021 15474022 15474022 exon 14 0.3888889 ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATATCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 1307 113 0.9526833 0.9382874 0.9454854 NA NA 0.9661178 0.9553695 NA NA -0.01343445 -0.01708209 NA 0.9607436 NA -0.01525827 NA FALSE NA 1 4.106 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 1 NA AAA A,T 8.236e-06 3:15474022 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 missense_variant 2.958818 0.98555 0.9715 0.553676 0.9642193 0 1.425173e-07 FALSE 4.06306e-06 ENSE00002084171_012 ENSE00002084171 012 3 15515445 15515614 - 62 36 72 C T 15515533 339 82 TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGAAATCTTGGGAAACCCTGTGAAAAGAGCAACAAATAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15474025 15474026 15474026 exon 10 0.2777778 ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAAGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 18 20 1 0.95 0.975 NA NA 0.9661178 0.9553695 NA NA 0.0338822 -0.0053695 NA 0.9607436 NA 0.01425635 NA FALSE NA 1 5.772 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 rs374783562 1 NA T:0 T:0.0001 CCT C,T 8.236e-06 3:15474026 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 missense_variant 4.116128 0.99271 0.98087 0.553676 0.9984301 0 1.425173e-07 FALSE 8.12724e-06 ENSE00002084171_013 ENSE00002084171 013 3 15515445 15515614 - 62 36 72 C T 15515542 340 73 TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGAAATCCTGGGAAACTCTGTGAAAAGAGCAACAAATAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15474034 15474035 15474035 exon 1 0.02777778 ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGAGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 430 58 0 0 0 NA NA 0.9661178 0.9553695 NA NA -0.9661178 -0.9553695 NA 0.9607436 NA -0.9607436 NA TRUE NA 1 5.772 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 1 NA CCC C,T 1.647e-05 3:15474035 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 missense_variant 3.954252 0.99271 0.98087 0.653281 0.9957778 0 1.425173e-07 FALSE 8.12579e-06 ENSE00002084171_014 ENSE00002084171 014 3 15515445 15515614 - 62 36 72 C T 15515543 341 72 TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGAAATCCTGGGAAACCTTGTGAAAAGAGCAACAAATAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15474035 15474036 15474036 upstr_intron -1 0 ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAAGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 78 444 0 0 0 NA NA 0.9661178 0.9553695 NA NA -0.9661178 -0.9553695 NA 0.9607436 NA -0.9607436 NA TRUE NA 1 5.772 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 1 NA CCT C,T 8.236e-06 3:15474036 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 splice_acceptor_variant 5.677323 0.99271 0.98087 0.074636 0.9955825 0.987076 1.425173e-07 FALSE 4.06326e-06 ENSE00002084171_015 ENSE00002084171 015 3 15515445 15515614 - 62 36 72 C A 15515558 342 57 TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGAAATCCTGGGAAACCCTGTGAAAAGAGCAAAAAATAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15474050 15474051 15474051 upstr_intron -16 -0.2083333 ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTTTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 328 112 1 1 1 NA NA 0.9661178 0.9553695 NA NA 0.0338822 0.0446305 NA 0.9607436 NA 0.03925635 NA FALSE NA 0.892 0.647 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 1 NA ACA C,A 8.236e-06 3:15474051 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 intron_variant 0.096414 0.31493 0.06688 0.074636 0.4376081 0.11742 1.425173e-07 FALSE NA ENSE00002084171_017 ENSE00002084171 017 3 15515445 15515614 - 62 36 72 T C 15515562 344 53 TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGAAATCCTGGGAAACCCTGTGAAAAGAGCAACAAACAATTGTGATCACCTCTGAAATAACACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15474054 15474055 15474055 upstr_intron -20 -0.2638889 ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTGTTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 42 549 0.984311 0.9971063 0.9907086 NA NA 0.9661178 0.9553695 NA NA 0.01819321 0.04173676 NA 0.9607436 NA 0.02996498 NA FALSE NA 0 -1.16 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 1 NA ATA T,C 3.295e-05 3:15474055 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 intron_variant -0.268452 0.14794 0.03397 0.074636 0.3406087 0.121884 1.425173e-07 FALSE 2.84458e-05 ENSE00002084171_018 ENSE00002084171 018 3 15515445 15515614 - 62 36 72 C T 15515586 345 29 TTGTGCTTGGAGGACCTGATATTTTTATTGAGGCCTATTTTCACTACCTCAAGGTTACTTACTTTCTGCCCCAACATTCCAGGAAATCCTGGGAAACCCTGTGAAAAGAGCAACAAATAATTGTGATCACCTCTGAAATAATACCTGAAATGGCTGTGGACAGGCTTTGT 15473937 15474107 15474078 15474079 15474079 upstr_intron -44 -0.5972222 ACAAAGCCTGTCCACAGCCATTTCAGGTATTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA ACAAAGCCTGTCCACAGCCATTTCAGGTGTTATTTCAGAGGTGATCACAATTATTTGTTGCTCTTTTCACAGGGTTTCCCAGGATTTCCTGGAATGTTGGGGCAGAAAGTAAGTAACCTTGAGGTAGTGAAAATAGGCCTCAATAAAAATATCAGGTCCTCCAAGCACAA mutant NA NA NA NA NA 735 112 0.9877635 0.974359 0.9810613 NA NA 0.9661178 0.9553695 NA NA 0.02164574 0.01898948 NA 0.9607436 NA 0.02031761 NA FALSE NA 0 -0.502 . downstream_gene_variant MODIFIER COLQ HGNC 2226 ENST00000604401 1 NA ACA C,T 8.237e-06 3:15474079 COLQ HGNC Symbol protein_coding 71618 ENSG00000206561 ENSE00002084171 intron_variant 1.230513 0.18595 0.01924 0.074636 0.6828064 0.0656782 1.425173e-07 FALSE NA ENSE00002084459_000 ENSE00002084459 000 3 128875651 128875820 - 47 66 57 NA NA NA NA NA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA 129156807 129156977 NA NA NA NA NA NA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA natural NA NA NA NA NA 2339 2781 0.9434688 0.9870633 0.9652661 NA NA 0.9434688 0.9870633 NA NA 0 0 NA 0.9652661 NA 0 NA FALSE NA NA NA NA NA NA ISY1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ISY1 NA NA NA ENSG00000240682 ENSE00003606788 NA NA NA NA NA NA NA 0.9982907 TRUE NA ENSE00002087838_000 ENSE00002087838 000 6 75816094 75816263 - 41 78 51 NA NA NA NA NA TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT 75106377 75106547 NA NA NA NA NA NA TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT natural NA NA NA NA NA 2002 1580 0.9980678 0.820552 0.9093099 NA NA 0.9980678 0.820552 NA NA 0 0 NA 0.9093099 NA 0 NA FALSE NA NA NA NA NA NA COL12A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL12A1 NA NA NA ENSG00000111799 ENSE00002087838 NA NA NA NA NA NA NA 0.9999996 TRUE NA ENSE00002087838_001 ENSE00002087838 001 6 75816094 75816263 - 41 78 51 G A 75816112 1857 152 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTTTGCCATGGCTTTAACAGT 75106377 75106547 75106395 75106396 75106396 downstr_intron 23 1.575 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTTTGCCATGGCTTTAACAGT TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT mutant NA NA NA NA NA 72 98 1 1 1 NA NA 0.9980678 0.820552 NA NA 0.001932213 0.179448 NA 0.9093099 NA 0.09069009 NA FALSE NA 0.005 0.192 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 50/62 1 NA AGA G,A 8.278e-06 6:75106396 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00002087838 intron_variant 0.399285 0.22456 0.06565 0.053691 0.5716654 0.074613 0.9999996 TRUE NA ENSE00002087838_002 ENSE00002087838 002 6 75816094 75816263 - 41 78 51 G A 75816143 1858 121 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTTCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT 75106377 75106547 75106426 75106427 75106427 exon -9 0.8974359 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTTCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT mutant NA NA NA NA NA 133 395 0.9988458 1 0.9994229 NA NA 0.9980678 0.820552 NA NA 0.0007780219 0.179448 NA 0.9093099 NA 0.09011299 NA FALSE NA 1 9.035 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 50/62 1 NA GGA G,A 4.966e-05 6:75106427 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00002087838 missense_variant 5.124664 0.99438 0.99191 0.706298 0.9986745 0 0.9999996 TRUE 2.84766e-05 ENSE00002087838_006 ENSE00002087838 006 6 75816094 75816263 - 41 78 51 G C 75816168 1862 96 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACGAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT 75106377 75106547 75106451 75106452 75106452 exon -34 0.5769231 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACGAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT mutant NA NA NA NA NA 532 126 0.9776038 0.9990887 0.9883463 NA NA 0.9980678 0.820552 NA NA -0.02046394 0.1785367 NA 0.9093099 NA 0.07903636 NA FALSE NA 1 2.092 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 50/62 1 NA TGG G,C 1.655e-05 6:75106452 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00002087838 synonymous_variant 1.160956 0.97744 0.92032 0.706298 0.7286555 0 0.9999996 TRUE 1.21973e-05 ENSE00002087838_008 ENSE00002087838 008 6 75816094 75816263 - 41 78 51 A G 75816180 1864 84 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGCCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT 75106377 75106547 75106463 75106464 75106464 exon 33 0.4230769 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGCCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT mutant NA NA NA NA NA 644 972 0.9976113 0.9956763 0.9966438 NA NA 0.9980678 0.820552 NA NA -0.0004564644 0.1751243 NA 0.9093099 NA 0.0873339 NA FALSE NA 0.996 0.413 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 50/62 rs374488376 1 NA C:0.0003 C:0 GAC A,G 4.137e-05 6:75106464 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00002087838 synonymous_variant 1.217386 0.94135 0.48986 0.706298 0.755569 0 0.9999996 TRUE 3.65836e-05 ENSE00002087838_009 ENSE00002087838 009 6 75816094 75816263 - 41 78 51 C T 75816199 1865 65 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAATTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT 75106377 75106547 75106482 75106483 75106483 exon 14 0.1794872 TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAATTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT mutant NA NA NA NA NA 36 254 1 0.9975661 0.9987831 NA NA 0.9980678 0.820552 NA NA 0.001932213 0.1770141 NA 0.9093099 NA 0.08947314 NA FALSE NA 1 1.053 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 50/62 1 NA ACT C,T 8.273e-06 6:75106483 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00002087838 missense_variant 2.191183 0.93962 0.46868 0.706298 0.7629128 0 0.9999996 TRUE 4.06507e-06 ENSE00002087838_011 ENSE00002087838 011 6 75816094 75816263 - 41 78 51 C T 75816233 1867 31 TAAAATGTTTTTCATGCATCTTTAGCTGATATTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT 75106377 75106547 75106516 75106517 75106517 upstr_intron -21 -0.3921569 TAAAATGTTTTTCATGCATCTTTAGCTGATATTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT mutant NA NA NA NA NA 272 235 0.9788748 1 0.9894374 NA NA 0.9980678 0.820552 NA NA -0.01919298 0.179448 NA 0.9093099 NA 0.08012749 NA FALSE NA 0 -1.126 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 50/62 1 NA ACA C,T 8.275e-06 6:75106517 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00002087838 intron_variant 2.144341 0.70921 0.12802 0.053691 0.6254698 0.280265 0.9999996 TRUE 4.0705e-06 ENSE00002087838_BRK ENSE00002087838 BRK 6 75816094 75816263 - 41 78 51 A,G; T,T NA NA NA TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCTTTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGCCAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT 75106377 75106547 NA NA NA NA NA NA TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCTTTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGCCAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT TAAAATGTTTTTCATGCATCTTTAGCTGATGTTGCTGTTGGTTGTTTGCAGTTCCAAATCCAGAGTTTTGACATTGTCTGCAGTCCAGTGTGGACCAGTAGAGACAGATGCTGTGATATTCCCTCTAGGGTAAGTAAAACAGAATTGAATTCTGCCATGGCTTTAACAGT control NA NA NA NA NA 256 1018 0 0 0 NA NA 0.9980678 0.820552 NA NA -0.9980678 -0.820552 NA 0.9093099 NA -0.9093099 NA TRUE NA NA NA NA NA NA COL12A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL12A1 NA NA NA ENSG00000111799 ENSE00002087838 NA NA NA NA NA NA NA 0.9999996 TRUE NA ENSE00002108329_000 ENSE00002108329 000 6 33264771 33264940 - 38 84 48 NA NA NA NA NA TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC 33296993 33297163 NA NA NA NA NA NA TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC TGGGGGGTGGTGTGGAACTGTCTGACTTCCCCTTCCTTGCTCCTCCAGGCCCCTGTGTCCGTCTGGGATGAGGAGGAGGATGGTGCCGTGTTTACCGTCACAAGCCGCCAATATCGACCTCTTGATCCCTTGGTGAGATCATGACTTTAGCTTCTCACCTCTGACTCTTC natural 128 220 0.8961325 0.85 0.8730663 1061 635 0.9689774 0.9638487 0.966413 0.8961325 0.85 0.9689774 0.9638487 0 0 0 0 0.8730663 0.966413 0 0 0 FALSE FALSE NA NA NA NA NA TAPBP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RGL2 NA NA NA ENSG00000237441 ENSE00003583582 NA NA NA NA NA NA NA 0.0747683 FALSE NA ENSE00002129540_000 ENSE00002129540 000 15 42701450 42701619 + 51 78 41 NA NA NA NA NA AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 NA NA NA NA NA NA GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT natural 34 45 0.9748092 0.989583 0.9821961 1804 1189 0.9449153 0.8829071 0.9139112 0.9748092 0.989583 0.9449153 0.8829071 0 0 0 0 0.9821961 0.9139112 0 0 0 FALSE FALSE NA NA NA NA NA CAPN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAPN3 NA NA NA ENSG00000092529 ENSE00003460877 NA NA NA NA NA NA NA 9.73741e-09 FALSE NA ENSE00002129540_BRK ENSE00002129540 BRK 15 42701450 42701619 + 51 78 41 A,G; T,T NA NA NA AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCGGATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGAAGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 NA NA NA NA NA NA GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACTTCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATCCGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT control NA NA NA NA NA 44 360 0 0.02886928 0.01443464 0.9748092 0.989583 0.9449153 0.8829071 NA NA -0.9449153 -0.8540378 0.9821961 0.9139112 NA -0.8994765 NA TRUE NA NA NA NA NA NA CAPN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAPN3 NA NA NA ENSG00000092529 ENSE00003460877 NA NA NA NA NA NA NA 9.73741e-09 FALSE NA ENSE00002136447_000 ENSE00002136447 000 1 34673707 34673876 + 51 78 41 NA NA NA NA NA TCTGGCAGGAAACCCCTTGCCTGGCCATACTGAGCCTCTGTTTCTCCCCAGGGCCTGTACCCACAGCAGGCAGCGAGGATGCCCTATCAGCAGGCTTTGCACCCGCAGCTGGGATGTTACTCCCAACAGGTGAGTAGACGATCTCTCCTCCTCTGTCCTGGGTCCATGAA 34208105 34208275 NA NA NA NA NA NA TCTGGCAGGAAACCCCTTGCCTGGCCATACTGAGCCTCTGTTTCTCCCCAGGGCCTGTACCCACAGCAGGCAGCGAGGATGCCCTATCAGCAGGCTTTGCACCCGCAGCTGGGATGTTACTCCCAACAGGTGAGTAGACGATCTCTCCTCCTCTGTCCTGGGTCCATGAA TCTGGCAGGAAACCCCTTGCCTGGCCATACTGAGCCTCTGTTTCTCCCCAGGGCCTGTACCCACAGCAGGCAGCGAGGATGCCCTATCAGCAGGCTTTGCACCCGCAGCTGGGATGTTACTCCCAACAGGTGAGTAGACGATCTCTCCTCCTCTGTCCTGGGTCCATGAA natural NA NA NA NA NA 458 42 0.9979864 0.9953368 0.9966616 NA NA 0.9979864 0.9953368 NA NA 0 0 NA 0.9966616 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00002136447 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002144459_000 ENSE00002144459 000 10 99230496 99230665 - 36 87 47 NA NA NA NA NA GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 NA NA NA NA NA NA GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC natural 260 363 0.8669815 0.8377967 0.8523891 1676 1158 0.9485276 0.9652584 0.956893 0.8669815 0.8377967 0.9485276 0.9652584 0 0 0 0 0.8523891 0.956893 0 0 0 FALSE FALSE NA NA NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003554044 NA NA NA NA NA NA NA 0.831822 FALSE NA ENSE00002144459_001 ENSE00002144459 001 10 99230496 99230665 - 36 87 47 C T 99230512 2215 154 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAAGGTATATAGCCTCTGC 97470738 97470908 97470754 97470755 97470755 downstr_intron 20 1.571429 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAAGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant NA NA NA NA NA 157 464 0.9940867 0.9713653 0.982726 0.8669815 0.8377967 0.9485276 0.9652584 NA NA 0.04555913 0.006106872 0.8523891 0.956893 NA 0.025833 NA FALSE NA 0 -1.527 . intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 8/29 1 NA CCT C,T 1.647e-05 10:97470755 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 intron_variant -0.239238 0.15695 0.03703 0.256867 0.4990486 0.0977633 0.831822 FALSE 8.18143e-06 ENSE00002144459_007 ENSE00002144459 007 10 99230496 99230665 - 36 87 47 G A 99230546 2221 120 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACATCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470788 97470789 97470789 exon -15 0.8390805 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACATCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant 25 43 0.85 0.85 0.85 NA NA NA NA NA 0.8669815 0.8377967 0.9485276 0.9652584 -0.0169815 0.0122033 NA NA 0.8523891 0.956893 -0.002389104 NA NA NA FALSE 1 3.247 rs141375872 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 8/30 rs141375872 1 NA A:0.0002 A:0 GGT G,A 8.236e-06 10:97470789 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 missense_variant 1.580657 0.97618 0.95573 0.706548 0.9498114 0 0.831822 FALSE 5.29092e-05 ENSE00002144459_008 ENSE00002144459 008 10 99230496 99230665 - 36 87 47 T C 99230547 2222 119 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACGCCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470789 97470790 97470790 exon -16 0.8275862 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACGCCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant 50 55 0.02607537 0.09792235 0.06199886 NA NA NA NA NA 0.8669815 0.8377967 0.9485276 0.9652584 -0.8409061 -0.7398743 NA NA 0.8523891 0.956893 -0.7903902 NA NA NA TRUE 0.208 -0.49 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:97470790 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 synonymous_variant 0.30142 0.9762 0.48642 0.706548 0.6593089 0 0.831822 FALSE 4.06971e-06 ENSE00002144459_009 ENSE00002144459 009 10 99230496 99230665 - 36 87 47 T G 99230547 2223 119 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACCCCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470789 97470790 97470790 exon -16 0.8275862 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACCCCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant 48 18 0 0 0 NA NA NA NA NA 0.8669815 0.8377967 0.9485276 0.9652584 -0.8669815 -0.8377967 NA NA 0.8523891 0.956893 -0.8523891 NA NA NA TRUE 0.208 -0.49 NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003554044 synonymous_variant 0.745544 0.9772 0.57615 0.706548 0.6626296 0 0.831822 FALSE 1.22091e-05 ENSE00002144459_014 ENSE00002144459 014 10 99230496 99230665 - 36 87 47 G A 99230565 2228 101 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGTGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470807 97470808 97470808 exon -34 0.6206897 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGTGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant NA NA NA NA NA 45 89 0.95 0.9866025 0.9683013 0.8669815 0.8377967 0.9485276 0.9652584 NA NA 0.00147244 0.0213441 0.8523891 0.956893 NA 0.01140827 NA FALSE NA 0.633 -0.142 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 8/30 rs370269016 1 NA A:0 A:0.0001 CGC G,A 4.942e-05 10:97470808 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 synonymous_variant 0.62016 0.95425 0.58476 0.706548 0.5779852 0 0.831822 FALSE 1.62489e-05 ENSE00002144459_015 ENSE00002144459 015 10 99230496 99230665 - 36 87 47 C T 99230566 2229 100 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCACGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470808 97470809 97470809 exon -35 0.6091954 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCACGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant NA NA NA NA NA 791 33 0.9492087 0.95 0.9496043 0.8669815 0.8377967 0.9485276 0.9652584 NA NA 0.0006811325 -0.01525841 0.8523891 0.956893 NA -0.007288637 NA FALSE NA 1 7.536 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 8/30 rs199857462 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCG C,T 1.647e-05 10:97470809 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 missense_variant 7.370684 0.99497 0.99256 0.706548 0.9993854 0 0.831822 FALSE 2.03105e-05 ENSE00002144459_018 ENSE00002144459 018 10 99230496 99230665 - 36 87 47 C T 99230585 2232 81 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAAACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470827 97470828 97470828 exon 34 0.3908046 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAAACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant NA NA NA NA NA 14 267 1 0.9600706 0.9800353 0.8669815 0.8377967 0.9485276 0.9652584 NA NA 0.05147244 -0.005187856 0.8523891 0.956893 NA 0.02314229 NA FALSE NA 1 2.33 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 8/30 1 NA TCT C,T 8.236e-06 10:97470828 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 missense_variant 6.743685 0.98413 0.94867 0.706548 0.9987246 0 0.831822 FALSE 8.12407e-06 ENSE00002144459_019 ENSE00002144459 019 10 99230496 99230665 - 36 87 47 T C 99230591 2233 75 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGGGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470833 97470834 97470834 exon 28 0.3218391 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGGGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant NA NA NA NA NA 71 42 0.8 0.8 0.8 0.8669815 0.8377967 0.9485276 0.9652584 NA NA -0.1485276 -0.1652584 0.8523891 0.956893 NA -0.156893 NA FALSE NA 1 1.283 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 8/30 1 NA CTC T,C 8.236e-06 10:97470834 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 missense_variant 3.685329 0.9778 0.92626 0.706548 0.9957942 0 0.831822 FALSE 4.06253e-06 ENSE00002144459_023 ENSE00002144459 023 10 99230496 99230665 - 36 87 47 G T 99230614 2237 52 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACATAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470856 97470857 97470857 exon 5 0.05747126 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACATAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant NA NA NA NA NA 28 67 0.95 0.8849291 0.9174646 0.8669815 0.8377967 0.9485276 0.9652584 NA NA 0.00147244 -0.08032931 0.8523891 0.956893 NA -0.03942843 NA FALSE NA 1 9.505 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 8/30 1 NA AGG G,T 1.647e-05 10:97470857 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 missense_variant 5.873855 0.99212 0.99535 0.706548 0.9958694 0 0.831822 FALSE 8.12625e-06 ENSE00002144459_024 ENSE00002144459 024 10 99230496 99230665 - 36 87 47 G A 99230627 2238 39 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCTTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 97470869 97470870 97470870 upstr_intron -9 -0.1702128 GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCTTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC mutant NA NA NA NA NA 430 38 0.9938197 0.9958151 0.9948174 0.8669815 0.8377967 0.9485276 0.9652584 NA NA 0.04529216 0.03055667 0.8523891 0.956893 NA 0.03792441 NA FALSE NA 0.001 1.446 . intron_variant&NMD_transcript_variant MODIFIER MMS19 HGNC 13824 ENST00000415383 7/29 1 NA AGG G,A 8.247e-06 10:97470870 MMS19 HGNC Symbol protein_coding 40470 ENSG00000155229 ENSE00003554044 intron_variant 2.489137 0.31359 0.0511 0.115753 0.8771118 0.3981 0.831822 FALSE 8.15721e-06 ENSE00002144459_BRK ENSE00002144459 BRK 10 99230496 99230665 - 36 87 47 A,G; T,T NA NA NA GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCTTCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGCCGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC 97470738 97470908 NA NA NA NA NA NA GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCTTCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGCCGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC GTGGTCTGAAATGTTACACAAACCCACAGCCCTTCTCCCTTTTCCAGCCACCTAATGATCCCCATGGTATCCAGAGAGAAGACCTCATCCTGAGTCTTCGCGCTGTGCTGGCTTCTACACCACGATTTGCTGAGGTGGGTCTAGCCAAGGTTAGGGTATATAGCCTCTGC control NA NA NA NA NA 77 34 0 0.1006164 0.05030819 0.8669815 0.8377967 0.9485276 0.9652584 NA NA -0.9485276 -0.864642 0.8523891 0.956893 NA -0.9065848 NA TRUE NA NA NA NA NA NA MMS19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MMS19 NA NA NA ENSG00000155229 ENSE00003554044 NA NA NA NA NA NA NA 0.831822 FALSE NA ENSE00002152303_000 ENSE00002152303 000 6 158464300 158464469 + 48 84 38 NA NA NA NA NA CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 NA NA NA NA NA NA CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT natural 54 44 0.9969769 0.9981855 0.9975812 3626 4618 0.9362698 0.9888294 0.9625496 0.9969769 0.9981855 0.9362698 0.9888294 0 0 0 0 0.9975812 0.9625496 0 0 0 FALSE FALSE NA NA NA NA NA SYNJ2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNJ2 NA NA NA ENSG00000078269 ENSE00002152303 NA NA NA NA NA NA NA 3.522958e-05 FALSE NA ENSE00002152303_001 ENSE00002152303 001 6 158464300 158464469 + 48 84 38 A G 158464314 2567 15 CGGTTTCATTGAAGGATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043281 158043282 158043282 upstr_intron -34 -0.6875 CGGTTTCATTGAAGGATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 416 26 1 0.8283187 0.9141593 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 -0.1605107 0.9975812 0.9625496 NA -0.04839028 NA FALSE NA 0.921 2.298 . intron_variant MODIFIER SYNJ2 HGNC 11504 ENST00000367121 4/26 1 NA GAA A,G 8.236e-06 6:158043282 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 intron_variant 1.04525 0.95003 0.83225 0.106106 0.6018412 0.794016 3.522958e-05 FALSE 4.07372e-06 ENSE00002152303_002 ENSE00002152303 002 6 158464300 158464469 + 48 84 38 A G 158464315 2568 16 CGGTTTCATTGAAGAGTACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043282 158043283 158043283 upstr_intron -33 -0.6666667 CGGTTTCATTGAAGAGTACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 66 1754 0.9961976 0.9981704 0.997184 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.0599278 0.009340957 0.9975812 0.9625496 NA 0.03463438 NA FALSE NA 0.572 1.621 rs144212585 intron_variant MODIFIER SYNJ2 HGNC 11504 ENST00000367121 4/26 rs144212585 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0064 G:0 AAT A,G 0.000626 6:158043283 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 intron_variant 0.902356 0.75837 0.67139 0.106106 0.5158112 0.2867 3.522958e-05 FALSE 0.000464234 ENSE00002152303_003 ENSE00002152303 003 6 158464300 158464469 + 48 84 38 C T 158464325 2569 26 CGGTTTCATTGAAGAATACCTTTCCTTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043292 158043293 158043293 upstr_intron -23 -0.4583333 CGGTTTCATTGAAGAATACCTTTCCTTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 304 113 0.9671827 0.9969102 0.9820464 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.03091287 0.008080749 0.9975812 0.9625496 NA 0.01949681 NA FALSE NA 0.803 0.681 . intron_variant MODIFIER SYNJ2 HGNC 11504 ENST00000367121 4/26 1 NA CCT C,T 8.236e-06 6:158043293 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 intron_variant 0.072038 0.30598 0.18635 0.106106 0.8525446 0.156508 3.522958e-05 FALSE 4.06521e-06 ENSE00002152303_004 ENSE00002152303 004 6 158464300 158464469 + 48 84 38 C A 158464329 2570 30 CGGTTTCATTGAAGAATACCTTTCCCTTTATGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043296 158043297 158043297 upstr_intron -19 -0.375 CGGTTTCATTGAAGAATACCTTTCCCTTTATGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 994 526 0.9997098 1 0.9998549 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06343999 0.01117059 0.9975812 0.9625496 NA 0.03730529 NA FALSE NA 0.998 1.132 . intron_variant MODIFIER SYNJ2 HGNC 11504 ENST00000367121 4/26 1 NA TCT C,A 8.236e-06 6:158043297 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 intron_variant 0.800645 0.96862 0.57747 0.106106 0.6754732 0.950924 3.522958e-05 FALSE 1.21926e-05 ENSE00002152303_005 ENSE00002152303 005 6 158464300 158464469 + 48 84 38 T G 158464334 2571 35 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTGCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043301 158043302 158043302 upstr_intron -14 -0.2708333 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTGCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 37 353 1 0.9835195 0.9917598 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 -0.005309858 0.9975812 0.9625496 NA 0.02921015 NA FALSE NA 0.007 0.522 . intron_variant MODIFIER SYNJ2 HGNC 11504 ENST00000367121 4/26 1 NA TTC T,G 8.236e-06 6:158043302 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 intron_variant 0.688403 0.26827 0.27319 0.106106 0.5594006 0.156508 3.522958e-05 FALSE 8.12519e-06 ENSE00002152303_006 ENSE00002152303 006 6 158464300 158464469 + 48 84 38 C A 158464336 2572 37 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCATTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043303 158043304 158043304 upstr_intron -12 -0.2291667 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCATTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 760 42 0.9947166 0.9099695 0.952343 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.05844675 -0.0788599 0.9975812 0.9625496 NA -0.01020657 NA FALSE NA 0 0.498 . intron_variant MODIFIER SYNJ2 HGNC 11504 ENST00000367121 4/26 1 NA CCT C,A 8.236e-06 6:158043304 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 intron_variant 1.060471 0.19503 0.23862 0.106106 0.6538174 0.232543 3.522958e-05 FALSE NA ENSE00002152303_007 ENSE00002152303 007 6 158464300 158464469 + 48 84 38 C T 158464343 2573 44 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCTGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043310 158043311 158043311 upstr_intron -5 -0.08333333 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCTGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 376 406 1 0.9996103 0.9998051 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.01078086 0.9975812 0.9625496 NA 0.03725551 NA FALSE NA 0 -0.341 . splice_region_variant&intron_variant LOW SYNJ2 HGNC 11504 ENST00000367121 4/26 rs377291292 1 NA T:0 T:0.0001 CCG C,T 4.942e-05 6:158043311 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 splice_region_variant 0.674531 0.12564 0.0076 0.106106 0.8027242 0.230996 3.522958e-05 FALSE 4.87452e-05 ENSE00002152303_008 ENSE00002152303 008 6 158464300 158464469 + 48 84 38 G A 158464344 2574 45 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCACAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043311 158043312 158043312 upstr_intron -4 -0.0625 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCACAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 847 183 1 0.9916851 0.9958426 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.002855694 0.9975812 0.9625496 NA 0.03329293 NA FALSE NA 0 -0.447 . splice_region_variant&intron_variant LOW SYNJ2 HGNC 11504 ENST00000367121 4/26 rs368232595 1 NA A:0.0002 A:0.0001 CGC G,A 2.471e-05 6:158043312 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 splice_region_variant 0.055045 0.94273 0.14707 0.106106 0.7841644 0.895738 3.522958e-05 FALSE 2.84349e-05 ENSE00002152303_009 ENSE00002152303 009 6 158464300 158464469 + 48 84 38 A C 158464355 2575 56 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTCCATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043322 158043323 158043323 exon 8 0.0952381 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTCCATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 81 953 1 0.9966567 0.9983284 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.00782733 0.9975812 0.9625496 NA 0.03577875 NA FALSE NA 1 5.103 . missense_variant MODERATE SYNJ2 HGNC 11504 ENST00000367121 5/27 rs569118837 1 probably_damaging(0.974) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TAC A,C 8.236e-06 6:158043323 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 3.147705 0.98942 0.93827 0.722319 0.9915871 0 3.522958e-05 FALSE 8.12216e-06 ENSE00002152303_010 ENSE00002152303 010 6 158464300 158464469 + 48 84 38 A G 158464357 2576 58 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACGTGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043324 158043325 158043325 exon 10 0.1190476 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACGTGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 504 343 1 0.9953172 0.9976586 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.006487843 0.9975812 0.9625496 NA 0.035109 NA FALSE NA 1 1.912 . missense_variant MODERATE SYNJ2 HGNC 11504 ENST00000367121 5/27 1 benign(0.009) NA CAT A,G 3.295e-05 6:158043325 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 1.741271 0.99109 0.87333 0.722319 0.9739692 0 3.522958e-05 FALSE 2.43663e-05 ENSE00002152303_011 ENSE00002152303 011 6 158464300 158464469 + 48 84 38 T A 158464358 2577 59 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACAAGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043325 158043326 158043326 exon 11 0.1309524 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACAAGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 382 1026 0.9995986 1 0.9997993 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06332877 0.01117059 0.9975812 0.9625496 NA 0.03724968 NA FALSE NA 1 5.953 NA NA NA SYNJ2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:158043326 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 5.018989 0.98062 0.96784 0.722319 0.9803668 0 3.522958e-05 FALSE 4.06098e-06 ENSE00002152303_014 ENSE00002152303 014 6 158464300 158464469 + 48 84 38 A G 158464361 2580 62 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGGCGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043328 158043329 158043329 exon 14 0.1666667 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGGCGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 1236 315 0.9938237 0.9989945 0.9964091 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.05755384 0.01016512 0.9975812 0.9625496 NA 0.03385948 NA FALSE NA 1 8.902 . missense_variant MODERATE SYNJ2 HGNC 11504 ENST00000367121 5/27 1 probably_damaging(0.999) NA GAC A,G 8.236e-06 6:158043329 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 5.070637 0.97349 0.98317 0.722319 0.998098 0 3.522958e-05 FALSE 4.06091e-06 ENSE00002152303_015 ENSE00002152303 015 6 158464300 158464469 + 48 84 38 C G 158464362 2581 63 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGAGGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043329 158043330 158043330 exon 15 0.1785714 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGAGGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 174 485 1 0.8046578 0.9023289 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 -0.1841716 0.9975812 0.9625496 NA -0.06022073 NA FALSE NA 1 0.793 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:158043330 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 4.783952 0.99393 0.86343 0.722319 0.9966156 0 3.522958e-05 FALSE 3.24886e-05 ENSE00002152303_016 ENSE00002152303 016 6 158464300 158464469 + 48 84 38 C T 158464362 2582 63 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGATGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043329 158043330 158043330 exon 15 0.1785714 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGATGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 87 178 0.9951715 0.9997859 0.9974787 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.05890171 0.0109565 0.9975812 0.9625496 NA 0.03492911 NA FALSE NA 1 0.793 NA NA NA SYNJ2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNJ2 NA NA NA ENSG00000078269 ENSE00002152303 synonymous_variant 2.061234 0.98917 0.38168 0.722319 0.7462935 0 3.522958e-05 FALSE 8.12216e-06 ENSE00002152303_017 ENSE00002152303 017 6 158464300 158464469 + 48 84 38 G A 158464363 2583 64 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACAATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043330 158043331 158043331 exon 16 0.1904762 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACAATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 42 68 1 0.990581 0.9952905 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.001751627 0.9975812 0.9625496 NA 0.0327409 NA FALSE NA 1 7.571 . missense_variant MODERATE SYNJ2 HGNC 11504 ENST00000367121 5/27 COSM1228263 1 probably_damaging(0.947) NA CGA G,A 8.236e-06 6:158043331 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 4.498173 0.99127 0.98298 0.722319 0.9990164 0 3.522958e-05 FALSE 4.06098e-06 ENSE00002152303_018 ENSE00002152303 018 6 158464300 158464469 + 48 84 38 T C 158464365 2584 66 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGACGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043332 158043333 158043333 exon 18 0.2142857 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGACGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 155 1567 1 0.9890182 0.9945091 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.000188747 0.9975812 0.9625496 NA 0.03195946 NA FALSE NA 0.999 0.489 . synonymous_variant LOW SYNJ2 HGNC 11504 ENST00000367121 5/27 1 NA ATG T,C 8.236e-06 6:158043333 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 synonymous_variant 0.256887 0.98586 0.80411 0.722319 0.5775431 0 3.522958e-05 FALSE 4.06091e-06 ENSE00002152303_020 ENSE00002152303 020 6 158464300 158464469 + 48 84 38 T C 158464375 2586 76 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCACCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043342 158043343 158043343 exon 28 0.3333333 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCACCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 614 1055 0.8464532 0.9997001 0.9230766 0.9969769 0.9981855 0.9362698 0.9888294 NA NA -0.08981667 0.01087066 0.9975812 0.9625496 NA -0.03947301 NA FALSE NA 1 7.673 . missense_variant MODERATE SYNJ2 HGNC 11504 ENST00000367121 5/27 1 probably_damaging(0.999) NA ATC T,C 1.647e-05 6:158043343 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 6.384344 0.99345 0.98205 0.722319 0.9990608 0 3.522958e-05 FALSE 8.12183e-06 ENSE00002152303_022 ENSE00002152303 022 6 158464300 158464469 + 48 84 38 A G 158464392 2588 93 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGGGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043359 158043360 158043360 exon -40 0.5357143 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGGGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 190 172 1 1 1 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.01117059 0.9975812 0.9625496 NA 0.03745038 NA FALSE NA 1 0.969 . synonymous_variant LOW SYNJ2 HGNC 11504 ENST00000367121 5/27 1 NA GAG A,G 8.236e-06 6:158043360 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 synonymous_variant 0.400252 0.99346 0.88256 0.722319 0.6997169 0 3.522958e-05 FALSE 4.06088e-06 ENSE00002152303_023 ENSE00002152303 023 6 158464300 158464469 + 48 84 38 C T 158464398 2589 99 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCTGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043365 158043366 158043366 exon -34 0.6071429 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCTGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 199 228 0.9713919 0.9867531 0.9790725 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.0351221 -0.002076264 0.9975812 0.9625496 NA 0.01652292 NA FALSE NA 0.001 -1.621 . synonymous_variant LOW SYNJ2 HGNC 11504 ENST00000367121 5/27 1 NA CCG C,T 1.647e-05 6:158043366 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 synonymous_variant 2.196918 0.98639 0.15842 0.722319 0.7000552 0 3.522958e-05 FALSE 2.84278e-05 ENSE00002152303_025 ENSE00002152303 025 6 158464300 158464469 + 48 84 38 C T 158464403 2591 104 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCTGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043370 158043371 158043371 exon -29 0.6666667 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCTGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 990 305 0.894875 1 0.9474375 0.9969769 0.9981855 0.9362698 0.9888294 NA NA -0.0413948 0.01117059 0.9975812 0.9625496 NA -0.0151121 NA FALSE NA 1 7.461 . missense_variant MODERATE SYNJ2 HGNC 11504 ENST00000367121 5/27 rs200593132&COSM1075393 1 probably_damaging(1) NA T:0 T:0.0003 CCG C,T 0.0002224 6:158043371 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 7.508141 0.16506 0.89919 0.722319 0.9989924 0 3.522958e-05 FALSE 0.000272103 ENSE00002152303_026 ENSE00002152303 026 6 158464300 158464469 + 48 84 38 G A 158464404 2592 105 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCACTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043371 158043372 158043372 exon -28 0.6785714 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCACTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 63 687 1 0.9997697 0.9998849 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.01094032 0.9975812 0.9625496 NA 0.03733524 NA FALSE NA 0.001 -1.352 rs146336215 synonymous_variant LOW SYNJ2 HGNC 11504 ENST00000367121 5/27 rs146336215 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGC G,A 4.118e-05 6:158043372 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 synonymous_variant 1.327053 0.97822 0.12334 0.722319 0.6461878 0 3.522958e-05 FALSE 4.06157e-05 ENSE00002152303_027 ENSE00002152303 027 6 158464300 158464469 + 48 84 38 C G 158464405 2593 106 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGGTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043372 158043373 158043373 exon -27 0.6904762 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGGTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 92 91 1 1 1 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06373016 0.01117059 0.9975812 0.9625496 NA 0.03745038 NA FALSE NA 0.422 0.979 . missense_variant MODERATE SYNJ2 HGNC 11504 ENST00000367121 5/27 1 benign(0.169) NA GCT C,G 8.236e-06 6:158043373 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 2.617716 0.99147 0.74427 0.722319 0.9956842 0 3.522958e-05 FALSE 4.06118e-06 ENSE00002152303_029 ENSE00002152303 029 6 158464300 158464469 + 48 84 38 A G 158464416 2595 117 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAGCAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043383 158043384 158043384 exon -16 0.8214286 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAGCAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 724 1427 0.9960177 0.997453 0.9967354 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.05974783 0.008623632 0.9975812 0.9625496 NA 0.03418573 NA FALSE NA 1 2.924 rs61739884 synonymous_variant LOW SYNJ2 HGNC 11504 ENST00000367121 5/27 rs61739884 1 G:0.0160 G:0.0514 G:0.0173 NA G:0 G:0 G:0 G:0.0384 G:0.0012 AAC G,G 0.004678 6:158043384 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 synonymous_variant 0.668932 0.98667 0.28981 0.722319 0.6164797 0 3.522958e-05 FALSE 0.00395252 ENSE00002152303_030 ENSE00002152303 030 6 158464300 158464469 + 48 84 38 C G 158464417 2596 118 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAAGAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT 158043267 158043437 158043384 158043385 158043385 exon -15 0.8333333 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAAGAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 455 347 0.9951482 0.9924811 0.9938147 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.05887838 0.003651741 0.9975812 0.9625496 NA 0.03126506 NA FALSE NA 1 7.461 . missense_variant MODERATE SYNJ2 HGNC 11504 ENST00000367121 5/27 1 probably_damaging(0.992) NA ACA C,G 8.236e-06 6:158043385 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 missense_variant 5.996113 0.99154 0.9853 0.722319 0.9954134 0 3.522958e-05 FALSE 8.12394e-06 ENSE00002152303_033 ENSE00002152303 033 6 158464300 158464469 + 48 84 38 C T 158464458 2599 159 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCTCCTTGTGATGT 158043267 158043437 158043425 158043426 158043426 downstr_intron 27 1.72973 CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCTCCTTGTGATGT CGGTTTCATTGAAGAATACCTTTCCCTTTCTGTTTCCTTGTGCCGCAGATGATTTACATGGACGATGGAGTGTCATCTTTTGTCCAGATCAGAGGCTCCGTTCCGCTGTTCTGGGAACAGCCAGGGCTTCAGGTAGGTCATGAAAAAACTTAAATGTCCCCTTGTGATGT mutant NA NA NA NA NA 240 1064 0.9998284 0.9815722 0.9907003 0.9969769 0.9981855 0.9362698 0.9888294 NA NA 0.06355857 -0.007257245 0.9975812 0.9625496 NA 0.02815066 NA FALSE NA 0 -0.398 . intron_variant MODIFIER SYNJ2 HGNC 11504 ENST00000367121 5/26 1 NA CCC C,T 8.236e-06 6:158043426 SYNJ2 HGNC Symbol protein_coding 117289 ENSG00000078269 ENSE00002152303 intron_variant 0.181018 0.07446 0.00486 0.084033 0.839659 0.0682425 3.522958e-05 FALSE 4.0944e-06 ENSE00002162551_000 ENSE00002162551 000 11 44939470 44939639 + 53 75 42 NA NA NA NA NA GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 NA NA NA NA NA NA GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC natural 36 51 0.976143 0.9646678 0.9704054 546 1092 0.9735502 0.8824622 0.9280062 0.976143 0.9646678 0.9735502 0.8824622 0 0 0 0 0.9704054 0.9280062 0 0 0 FALSE FALSE NA NA NA NA NA TSPAN18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN18 NA NA NA ENSG00000157570 ENSE00003565211 NA NA NA NA NA NA NA 0.1618604 FALSE NA ENSE00002171872_000 ENSE00002171872 000 22 40696872 40697041 + 42 96 32 NA NA NA NA NA TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG 40300867 40301037 NA NA NA NA NA NA TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG natural NA NA NA NA NA 1035 1236 0.9916411 0.9996159 0.9956285 NA NA 0.9916411 0.9996159 NA NA 0 0 NA 0.9956285 NA 0 NA FALSE NA NA NA NA NA NA TNRC6B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNRC6B NA NA NA ENSG00000100354 ENSE00002171872 NA NA NA NA NA NA NA 0.9999998 TRUE NA ENSE00002171872_003 ENSE00002171872 003 22 40696872 40697041 + 42 96 32 G C 40696885 992 14 TCAGGAAACTTTGCTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG 40300867 40301037 40300880 40300881 40300881 upstr_intron -29 -0.6666667 TCAGGAAACTTTGCTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG mutant NA NA NA NA NA 192 218 0.9949634 1 0.9974817 NA NA 0.9916411 0.9996159 NA NA 0.003322363 0.0003840581 NA 0.9956285 NA 0.001853211 NA FALSE NA 0 -1.155 . intron_variant MODIFIER TNRC6B HGNC 29190 ENST00000454349 13/22 rs371000766 1 NA C:0.0003 C:0 GGT G,C 8.268e-06 22:40300881 TNRC6B HGNC Symbol protein_coding 290991 ENSG00000100354 ENSE00002171872 non_coding_transcript_exon_variant -0.290891 0.1684 0.09458 0.139865 0.3687248 0.169065 0.9999998 TRUE 4.29122e-06 ENSE00002171872_008 ENSE00002171872 008 22 40696872 40697041 + 42 96 32 G C 40696961 997 90 TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACACAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG 40300867 40301037 40300956 40300957 40300957 exon 48 0.5 TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACACAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG mutant NA NA NA NA NA 79 21 0.9978975 1 0.9989487 NA NA 0.9916411 0.9996159 NA NA 0.006256387 0.0003840581 NA 0.9956285 NA 0.003320222 NA FALSE NA 1 1.213 . missense_variant MODERATE TNRC6B HGNC 29190 ENST00000454349 14/23 1 deleterious(0) possibly_damaging(0.862) NA AGA G,C 8.26e-06 22:40300957 TNRC6B HGNC Symbol protein_coding 290991 ENSG00000100354 ENSE00002171872 missense_variant 4.721611 0.90319 0.76958 0.706548 0.9946625 0 0.9999998 TRUE 4.06795e-06 ENSE00002171872_009 ENSE00002171872 009 22 40696872 40697041 + 42 96 32 A G 40696972 998 101 TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAGGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG 40300867 40301037 40300967 40300968 40300968 exon -38 0.6145833 TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAGGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG mutant NA NA NA NA NA 168 1004 1 1 1 NA NA 0.9916411 0.9996159 NA NA 0.008358932 0.0003840581 NA 0.9956285 NA 0.004371495 NA FALSE NA 1 6.734 . missense_variant MODERATE TNRC6B HGNC 29190 ENST00000454349 14/23 1 tolerated(0.07) possibly_damaging(0.9) NA AAG A,G 8.26e-06 22:40300968 TNRC6B HGNC Symbol protein_coding 290991 ENSG00000100354 ENSE00002171872 missense_variant 4.125669 0.95782 0.92448 0.722319 0.9605153 0 0.9999998 TRUE 4.07206e-06 ENSE00002171872_010 ENSE00002171872 010 22 40696872 40697041 + 42 96 32 G C 40697009 999 138 TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCACGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG 40300867 40301037 40301004 40301005 40301005 exon -1 1 TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCACGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG mutant NA NA NA NA NA 74 639 0 0.07165894 0.03582947 NA NA 0.9916411 0.9996159 NA NA -0.9916411 -0.927957 NA 0.9956285 NA -0.959799 NA TRUE NA 1 7.105 . missense_variant&splice_region_variant MODERATE TNRC6B HGNC 29190 ENST00000454349 14/23 1 deleterious(0) probably_damaging(0.961) NA AGG G,C 8.259e-06 22:40301005 TNRC6B HGNC Symbol protein_coding 290991 ENSG00000100354 ENSE00002171872 missense_variant 5.91532 0.95958 0.94631 0.706548 0.9978775 0 0.9999998 TRUE 4.14425e-06 ENSE00002171872_013 ENSE00002171872 013 22 40696872 40697041 + 42 96 32 G C 40697016 1002 145 TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTCGGTAGGCAGGGTCCCTCCAGTGCTG 40300867 40301037 40301011 40301012 40301012 downstr_intron 7 1.225806 TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTCGGTAGGCAGGGTCCCTCCAGTGCTG TCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTG mutant NA NA NA NA NA 164 176 0.9990643 1 0.9995321 NA NA 0.9916411 0.9996159 NA NA 0.007423223 0.0003840581 NA 0.9956285 NA 0.00390364 NA FALSE NA 0.02 1.41 . splice_region_variant&intron_variant LOW TNRC6B HGNC 29190 ENST00000454349 14/22 rs368662731 1 NA C:0 C:0.0002 TGG G,C 2.478e-05 22:40301012 TNRC6B HGNC Symbol protein_coding 290991 ENSG00000100354 ENSE00002171872 splice_region_variant -0.152638 0.21908 0.26789 0.062308 0.309995 0.187639 0.9999998 TRUE 5.05233e-05 ENSE00002176939_000 ENSE00002176939 000 1 21151563 21151732 - 30 99 41 NA NA NA NA NA CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 NA NA NA NA NA NA CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG natural 106 194 0.9975232 0.9958131 0.9966681 3802 4668 0.9387266 0.9394199 0.9390732 0.9975232 0.9958131 0.9387266 0.9394199 0 0 0 0 0.9966681 0.9390732 0 0 0 FALSE FALSE NA NA NA NA NA EIF4G3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF4G3 NA NA NA ENSG00000075151 ENSE00002176939 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002176939_001 ENSE00002176939 001 1 21151563 21151732 - 30 99 41 A G 21151574 560 159 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGCTTTGCTGTTTG 20825069 20825239 20825080 20825081 20825081 downstr_intron 19 1.655172 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGCTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 47 31 0.9942271 0.9962129 0.99522 NA NA NA NA NA 0.9975232 0.9958131 0.9387266 0.9394199 -0.003296118 0.0003998208 NA NA 0.9966681 0.9390732 -0.001448149 NA NA NA FALSE 0 0.182 . intron_variant MODIFIER EIF4G3 HGNC 3298 ENST00000374935 26/29 1 NA AAC A,G 3.295e-05 1:20825081 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 intron_variant 0.072929 0.2082 0.02299 0.163922 0.3886945 0.0455939 0.9999999 TRUE 3.03251e-05 ENSE00002176939_003 ENSE00002176939 003 1 21151563 21151732 - 30 99 41 A G 21151617 562 116 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGACGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825123 20825124 20825124 exon -25 0.7575758 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGACGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 28 22 0.9962564 0.999206 0.9977312 NA NA NA NA NA 0.9975232 0.9958131 0.9387266 0.9394199 -0.001266766 0.003392927 NA NA 0.9966681 0.9390732 0.001063081 NA NA NA FALSE 1 2.75 . synonymous_variant LOW EIF4G3 HGNC 3298 ENST00000374935 26/30 1 NA CAT A,G 1.647e-05 1:20825124 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 synonymous_variant 0.558384 0.97759 0.87714 0.732398 0.578677 0 0.9999999 TRUE NA ENSE00002176939_004 ENSE00002176939 004 1 21151563 21151732 - 30 99 41 T A 21151618 563 115 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGTTGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825124 20825125 20825125 exon -26 0.7474747 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGTTGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 10 12 1 1 1 770 1445 0.995146 0.9954586 0.9953023 0.9975232 0.9958131 0.9387266 0.9394199 0.002476818 0.004186944 0.05641938 0.05603869 0.9966681 0.9390732 0.003331881 0.05622904 0.05289716 FALSE FALSE 1 7.694 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:20825125 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 missense_variant 6.790761 0.99237 0.99646 0.732398 0.9945252 0 0.9999999 TRUE 4.07737e-06 ENSE00002176939_005 ENSE00002176939 005 1 21151563 21151732 - 30 99 41 T C 21151618 564 115 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGGTGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825124 20825125 20825125 exon -26 0.7474747 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGGTGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 14 29 0.9263417 0.8408082 0.8835749 1622 1930 0.9964225 0.9948973 0.9956599 0.9975232 0.9958131 0.9387266 0.9394199 -0.07118152 -0.1550049 0.0576959 0.05547733 0.9966681 0.9390732 -0.1130932 0.05658662 0.1696798 FALSE FALSE 1 7.694 NA NA NA EIF4G3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF4G3 NA NA NA ENSG00000075151 ENSE00002176939 missense_variant 6.372156 0.9922 0.99629 0.732398 0.9983831 0 0.9999999 TRUE 4.07737e-06 ENSE00002176939_006 ENSE00002176939 006 1 21151563 21151732 - 30 99 41 T C 21151620 565 113 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAGGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825126 20825127 20825127 exon -28 0.7272727 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAGGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant NA NA NA NA NA 1826 565 0.9948579 0.9993818 0.9971198 0.9975232 0.9958131 0.9387266 0.9394199 NA NA 0.05613133 0.05996185 0.9966681 0.9390732 NA 0.05804659 NA FALSE NA 1 2.157 . synonymous_variant LOW EIF4G3 HGNC 3298 ENST00000374935 26/30 COSM1338641&COSM1338640 1 NA CTT T,C 8.236e-06 1:20825127 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 synonymous_variant 0.293221 0.97914 0.75736 0.732398 0.6264696 0 0.9999999 TRUE 4.07727e-06 ENSE00002176939_007 ENSE00002176939 007 1 21151563 21151732 - 30 99 41 T C 21151629 566 104 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCGGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825135 20825136 20825136 exon -37 0.6363636 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCGGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 12 19 0.9944158 0.988387 0.9914014 2224 1616 0.9972707 0.911594 0.9544324 0.9975232 0.9958131 0.9387266 0.9394199 -0.003107412 -0.007426056 0.05854415 -0.02782589 0.9966681 0.9390732 -0.005266734 0.01535913 0.02062586 FALSE FALSE 0.05 -1.347 . synonymous_variant LOW EIF4G3 HGNC 3298 ENST00000374935 26/30 1 NA CTG T,C 8.236e-06 1:20825136 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 synonymous_variant 0.703534 0.96126 0.32665 0.732398 0.7106089 0 0.9999999 TRUE 8.1416e-06 ENSE00002176939_008 ENSE00002176939 008 1 21151563 21151732 - 30 99 41 T C 21151643 567 90 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGGAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825149 20825150 20825150 exon 49 0.4949495 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGGAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 10 22 0.85 0.85 0.85 1040 470 0.9846905 0.9565006 0.9705955 0.9975232 0.9958131 0.9387266 0.9394199 -0.1475232 -0.1458131 0.04596388 0.01708066 0.9966681 0.9390732 -0.1466681 0.03152227 0.1781904 FALSE FALSE 1 3.529 . missense_variant MODERATE EIF4G3 HGNC 3298 ENST00000374935 26/30 1 tolerated(0.13) benign(0.011) NA TTC T,C 8.236e-06 1:20825150 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 missense_variant 3.094078 0.98253 0.9488 0.732398 0.9960625 0 0.9999999 TRUE 4.06689e-06 ENSE00002176939_010 ENSE00002176939 010 1 21151563 21151732 - 30 99 41 A G 21151656 569 77 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCCGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825162 20825163 20825163 exon 36 0.3636364 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCCGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 27 45 1 1 1 928 1088 0.93284 0.9976215 0.9652307 0.9975232 0.9958131 0.9387266 0.9394199 0.002476818 0.004186944 -0.005886613 0.05820153 0.9966681 0.9390732 0.003331881 0.02615746 0.02282558 FALSE FALSE 0.997 0.592 . synonymous_variant LOW EIF4G3 HGNC 3298 ENST00000374935 26/30 1 NA CAG A,G 8.236e-06 1:20825163 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 synonymous_variant 1.014404 0.9677 0.85592 0.732398 0.6901269 0 0.9999999 TRUE 4.07133e-06 ENSE00002176939_011 ENSE00002176939 011 1 21151563 21151732 - 30 99 41 C T 21151661 570 72 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGAAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825167 20825168 20825168 exon 31 0.3131313 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGAAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant NA NA NA NA NA 170 455 0.9997577 0.9863694 0.9930635 0.9975232 0.9958131 0.9387266 0.9394199 NA NA 0.06103109 0.0469495 0.9966681 0.9390732 NA 0.05399029 NA FALSE NA 1 7.164 . missense_variant MODERATE EIF4G3 HGNC 3298 ENST00000374935 26/30 1 deleterious(0.01) benign(0.093) NA TCC C,T 8.236e-06 1:20825168 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 missense_variant 5.431171 0.98995 0.98827 0.732398 0.9975868 0 0.9999999 TRUE 8.14418e-06 ENSE00002176939_012 ENSE00002176939 012 1 21151563 21151732 - 30 99 41 C T 21151663 571 70 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAAGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825169 20825170 20825170 exon 29 0.2929293 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAAGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 30 11 1 1 1 287 263 0.9997129 0.9993982 0.9995555 0.9975232 0.9958131 0.9387266 0.9394199 0.002476818 0.004186944 0.06098628 0.05997827 0.9966681 0.9390732 0.003331881 0.06048228 0.0571504 FALSE FALSE 1 3.482 . missense_variant MODERATE EIF4G3 HGNC 3298 ENST00000374935 26/30 1 tolerated(0.08) benign(0.006) NA CCT C,T 8.236e-06 1:20825170 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 missense_variant 3.191886 0.98635 0.95322 0.732398 0.9935469 0 0.9999999 TRUE 8.15262e-06 ENSE00002176939_013 ENSE00002176939 013 1 21151563 21151732 - 30 99 41 T A 21151687 572 46 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCTTAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825193 20825194 20825194 exon 5 0.05050505 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCTTAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant NA NA NA NA NA 2484 1168 0.9979879 0.9993082 0.998648 0.9975232 0.9958131 0.9387266 0.9394199 NA NA 0.05926128 0.05988824 0.9966681 0.9390732 NA 0.05957476 NA FALSE NA 1 5.662 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:20825194 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 missense_variant 5.365142 0.99216 0.98529 0.732398 0.9753347 0 0.9999999 TRUE 4.12031e-06 ENSE00002176939_014 ENSE00002176939 014 1 21151563 21151732 - 30 99 41 T C 21151687 573 46 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCGTAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825193 20825194 20825194 exon 5 0.05050505 CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCGTAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 21 21 0.9995958 1 0.9997979 4057 1212 0.9996241 0.9958228 0.9977234 0.9975232 0.9958131 0.9387266 0.9394199 0.00207264 0.004186944 0.06089749 0.05640287 0.9966681 0.9390732 0.003129792 0.05865018 0.05552039 FALSE FALSE 1 5.662 NA NA NA EIF4G3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF4G3 NA NA NA ENSG00000075151 ENSE00002176939 missense_variant 1.185691 0.99199 0.98392 0.732398 0.7576166 0 0.9999999 TRUE NA ENSE00002176939_015 ENSE00002176939 015 1 21151563 21151732 - 30 99 41 A G 21151699 574 34 CCACTGTGAAAGTAAATGGATTGGATTTATCTCCATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825205 20825206 20825206 upstr_intron -8 -0.1707317 CCACTGTGAAAGTAAATGGATTGGATTTATCTCCATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant NA NA NA NA NA 606 2019 0.9931007 0.9992995 0.9962001 0.9975232 0.9958131 0.9387266 0.9394199 NA NA 0.05437413 0.0598796 0.9966681 0.9390732 NA 0.05712686 NA FALSE NA 0.995 5.956 . splice_region_variant&intron_variant LOW EIF4G3 HGNC 3298 ENST00000374935 25/29 1 NA TAG A,G 2.471e-05 1:20825206 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 splice_region_variant 1.268059 0.58782 0.87911 0.106106 0.8239931 0.930308 0.9999999 TRUE 1.78226e-05 ENSE00002176939_016 ENSE00002176939 016 1 21151563 21151732 - 30 99 41 T A 21151708 575 25 CCACTGTGAAAGTAAATGGATTGGTTTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825214 20825215 20825215 upstr_intron -17 -0.3902439 CCACTGTGAAAGTAAATGGATTGGTTTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 13 44 1 1 1 151 1714 0.979055 0.998473 0.988764 0.9975232 0.9958131 0.9387266 0.9394199 0.002476818 0.004186944 0.04032843 0.05905307 0.9966681 0.9390732 0.003331881 0.04969075 0.04635887 FALSE FALSE 0 -0.108 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:20825215 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 intron_variant 0.085313 0.19393 0.05644 0.106106 0.4298346 0.0380076 0.9999999 TRUE 5.00315e-06 ENSE00002176939_017 ENSE00002176939 017 1 21151563 21151732 - 30 99 41 T G 21151708 576 25 CCACTGTGAAAGTAAATGGATTGGCTTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825214 20825215 20825215 upstr_intron -17 -0.3902439 CCACTGTGAAAGTAAATGGATTGGCTTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant NA NA NA NA NA 564 387 0.9988266 1 0.9994133 0.9975232 0.9958131 0.9387266 0.9394199 NA NA 0.06010006 0.06058008 0.9966681 0.9390732 NA 0.06034007 NA FALSE NA 0 -0.108 NA NA NA EIF4G3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF4G3 NA NA NA ENSG00000075151 ENSE00002176939 intron_variant -0.086555 0.21707 0.04209 0.106106 0.5078365 0.0380076 0.9999999 TRUE 1.00063e-05 ENSE00002176939_018 ENSE00002176939 018 1 21151563 21151732 - 30 99 41 T C 21151717 577 16 CCACTGTGAAAGTAAGTGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825223 20825224 20825224 upstr_intron -26 -0.6097561 CCACTGTGAAAGTAAGTGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant 20 11 0.9733406 1 0.9866703 1120 223 0.9903219 1 0.995161 0.9975232 0.9958131 0.9387266 0.9394199 -0.02418255 0.004186944 0.05159533 0.06058008 0.9966681 0.9390732 -0.009997805 0.05608771 0.06608551 FALSE FALSE 0.905 0.212 . intron_variant MODIFIER EIF4G3 HGNC 3298 ENST00000374935 25/29 1 NA ATT T,C 8.238e-06 1:20825224 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 intron_variant 0.888027 0.22784 0.09703 0.106106 0.8062303 0.146466 0.9999999 TRUE NA ENSE00002176939_019 ENSE00002176939 019 1 21151563 21151732 - 30 99 41 T C 21151719 578 14 CCACTGTGAAAGTGAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 20825225 20825226 20825226 upstr_intron -28 -0.6585366 CCACTGTGAAAGTGAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG mutant NA NA NA NA NA 1730 1414 0.9995471 0.9983927 0.9989699 0.9975232 0.9958131 0.9387266 0.9394199 NA NA 0.06082057 0.05897279 0.9966681 0.9390732 NA 0.05989668 NA FALSE NA 0.998 0.173 . intron_variant MODIFIER EIF4G3 HGNC 3298 ENST00000374935 25/29 1 NA TTA T,C 8.238e-06 1:20825226 EIF4G3 HGNC Symbol protein_coding 370596 ENSG00000075151 ENSE00002176939 intron_variant 1.135695 0.21714 0.09419 0.106106 0.7522389 0.0736506 0.9999999 TRUE 5.1434e-06 ENSE00002176939_BRK ENSE00002176939 BRK 1 21151563 21151732 - 30 99 41 A,G; T,T NA NA NA CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTTTAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGCCAAGAACAAGGCTTATGTTTTGCTGTTTG 20825069 20825239 NA NA NA NA NA NA CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTTTAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGCCAAGAACAAGGCTTATGTTTTGCTGTTTG CCACTGTGAAAGTAAATGGATTGGATTTATCTCTATTTTAGAGCCATAAGAAAGTGGGAGCCTTATGGAGGGAGGCTGACCTCAGCTGGAAGGACTTTTTACCAGAAGGAGAAGATGTACATAATTTTCTTTTGGAGCAGGTAAGAACAAGGCTTATGTTTTGCTGTTTG control 59 96 0 0 0 1227 329 0.004936909 0.002516174 0.003726541 0.9975232 0.9958131 0.9387266 0.9394199 -0.9975232 -0.9958131 -0.9337897 -0.9369037 0.9966681 0.9390732 -0.9966681 -0.9353467 0.06132141 TRUE TRUE NA NA NA NA NA EIF4G3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EIF4G3 NA NA NA ENSG00000075151 ENSE00002176939 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002178626_000 ENSE00002178626 000 6 170667270 170667439 + 44 93 33 NA NA NA NA NA ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 NA NA NA NA NA NA ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG natural 28 36 0.9904857 0.9930605 0.9917731 865 1324 1 0.8930188 0.9465094 0.9904857 0.9930605 1 0.8930188 0 0 0 0 0.9917731 0.9465094 0 0 0 FALSE FALSE NA NA NA NA NA FAM120B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM120B NA NA NA ENSG00000112584 ENSE00002178626 NA NA NA NA NA NA NA 2.340668e-08 FALSE NA ENSE00002178626_001 ENSE00002178626 001 6 170667270 170667439 + 44 93 33 C T 170667288 2885 19 ATTTTTCCTGTAGCCTAATACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358199 170358200 170358200 upstr_intron -26 -0.5681818 ATTTTTCCTGTAGCCTAATACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 59 1102 0.9405067 0.9972814 0.968894 0.9904857 0.9930605 1 0.8930188 NA NA -0.05949327 0.1042625 0.9917731 0.9465094 NA 0.02238462 NA FALSE NA 0 -1.886 . intron_variant MODIFIER FAM120B HGNC 21109 ENST00000476287 5/10 rs62422760 1 NA ACA C,T 8.257e-06 6:170358200 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 intron_variant 0.298131 0.10198 0.0029 0.115753 0.8294655 0.101141 2.340668e-08 FALSE 4.6736e-06 ENSE00002178626_002 ENSE00002178626 002 6 170667270 170667439 + 44 93 33 A G 170667289 2886 20 ATTTTTCCTGTAGCCTAACGCTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358200 170358201 170358201 upstr_intron -25 -0.5454545 ATTTTTCCTGTAGCCTAACGCTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 138 171 1 0.9997771 0.9998886 0.9904857 0.9930605 1 0.8930188 NA NA 0 0.1067583 0.9917731 0.9465094 NA 0.05337915 NA FALSE NA 0 -1.6 rs80004194 intron_variant MODIFIER FAM120B HGNC 21109 ENST00000476287 5/10 rs80004194 1 G:0.0150 G:0.0545 G:0.0043 NA G:0 G:0 G:0 G:0.0545 G:0 CAC A,G 0.004491 6:170358201 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 intron_variant -0.153206 0.05646 0.00257 0.115753 0.4747167 0.101141 2.340668e-08 FALSE 0.0035713 ENSE00002178626_003 ENSE00002178626 003 6 170667270 170667439 + 44 93 33 C T 170667295 2887 26 ATTTTTCCTGTAGCCTAACACTGGCTTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358206 170358207 170358207 upstr_intron -19 -0.4090909 ATTTTTCCTGTAGCCTAACACTGGCTTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 266 1161 0.8314153 0.9997275 0.9155714 0.9904857 0.9930605 1 0.8930188 NA NA -0.1685847 0.1067086 0.9917731 0.9465094 NA -0.03093804 NA FALSE NA 0.013 -0.11 . intron_variant MODIFIER FAM120B HGNC 21109 ENST00000476287 5/10 rs368886702 1 NA T:0.0005 T:0 CCT C,T 2.475e-05 6:170358207 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 intron_variant 0.75726 0.13987 0.03469 0.115753 0.6988902 0.18079 2.340668e-08 FALSE 2.27229e-05 ENSE00002178626_004 ENSE00002178626 004 6 170667270 170667439 + 44 93 33 T C 170667296 2888 27 ATTTTTCCTGTAGCCTAACACTGGCCCTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358207 170358208 170358208 upstr_intron -18 -0.3863636 ATTTTTCCTGTAGCCTAACACTGGCCCTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 120 10 0.9593976 0.9563693 0.9578834 0.9904857 0.9930605 1 0.8930188 NA NA -0.04060237 0.06335043 0.9917731 0.9465094 NA 0.01137403 NA FALSE NA 0.032 0.434 . intron_variant MODIFIER FAM120B HGNC 21109 ENST00000476287 5/10 rs567085393 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CTT T,C 1.65e-05 6:170358208 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 intron_variant 0.67017 0.17021 0.0087 0.115753 0.7689206 0.182275 2.340668e-08 FALSE 1.80909e-05 ENSE00002178626_005 ENSE00002178626 005 6 170667270 170667439 + 44 93 33 C A 170667299 2889 30 ATTTTTCCTGTAGCCTAACACTGGCCTTTATCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358210 170358211 170358211 upstr_intron -15 -0.3181818 ATTTTTCCTGTAGCCTAACACTGGCCTTTATCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 228 36 0.9658446 0.95 0.9579223 0.9904857 0.9930605 1 0.8930188 NA NA -0.03415539 0.05698116 0.9917731 0.9465094 NA 0.01141289 NA FALSE NA 0.003 -0.047 . intron_variant MODIFIER FAM120B HGNC 21109 ENST00000476287 5/10 rs372181091 1 NA A:0 A:0.0001 TCT C,A 1.65e-05 6:170358211 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 intron_variant 1.08434 0.1733 0.03321 0.115753 0.7187131 0.124155 2.340668e-08 FALSE NA ENSE00002178626_006 ENSE00002178626 006 6 170667270 170667439 + 44 93 33 T C 170667300 2890 31 ATTTTTCCTGTAGCCTAACACTGGCCTTTCCCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358211 170358212 170358212 upstr_intron -14 -0.2954545 ATTTTTCCTGTAGCCTAACACTGGCCTTTCCCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 783 41 0.8924076 0.7900916 0.8412496 0.9904857 0.9930605 1 0.8930188 NA NA -0.1075924 -0.1029272 0.9917731 0.9465094 NA -0.1052598 NA FALSE NA 0.006 1.199 . intron_variant MODIFIER FAM120B HGNC 21109 ENST00000476287 5/10 rs372650193 1 NA C:0 C:0.0001 CTC T,C 8.248e-06 6:170358212 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 intron_variant 0.964574 0.1334 0.03695 0.115753 0.7528168 0.187334 2.340668e-08 FALSE 8.93224e-06 ENSE00002178626_007 ENSE00002178626 007 6 170667270 170667439 + 44 93 33 C G 170667301 2891 32 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTGTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358212 170358213 170358213 upstr_intron -13 -0.2727273 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTGTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 216 330 0.9626278 0.9882353 0.9754315 0.9904857 0.9930605 1 0.8930188 NA NA -0.03737224 0.09521647 0.9917731 0.9465094 NA 0.02892211 NA FALSE NA 0 -0.17 . intron_variant MODIFIER FAM120B HGNC 21109 ENST00000476287 5/10 1 NA TCT C,G 2.474e-05 6:170358213 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 intron_variant 0.994197 0.14895 0.03516 0.115753 0.6662176 0.188769 2.340668e-08 FALSE 3.11871e-05 ENSE00002178626_008 ENSE00002178626 008 6 170667270 170667439 + 44 93 33 C T 170667319 2892 50 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGATACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358230 170358231 170358231 exon 6 0.06451613 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGATACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 2515 184 0.970505 1 0.9852525 0.9904857 0.9930605 1 0.8930188 NA NA -0.02949495 0.1069812 0.9917731 0.9465094 NA 0.03874311 NA FALSE NA 0.999 1.677 rs41269639 synonymous_variant LOW FAM120B HGNC 21109 ENST00000476287 6/11 rs41269639 1 T:0.0068 T:0.0008 T:0.013 NA T:0 T:0.0239 T:0 T:0.0043 T:0.0203 ACA C,T 0.01 6:170358231 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 synonymous_variant 1.617668 0.95166 0.60883 0.706298 0.6008623 0 2.340668e-08 FALSE 0.0113391 ENSE00002178626_009 ENSE00002178626 009 6 170667270 170667439 + 44 93 33 C T 170667321 2893 52 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACATGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358232 170358233 170358233 exon 8 0.08602151 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACATGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 156 345 0.9858841 0.9905341 0.9882091 0.9904857 0.9930605 1 0.8930188 NA NA -0.01411588 0.09751526 0.9917731 0.9465094 NA 0.04169969 NA FALSE NA 0.983 2.663 . missense_variant MODERATE FAM120B HGNC 21109 ENST00000476287 6/11 1 deleterious(0) probably_damaging(0.921) NA ACG C,T 1.648e-05 6:170358233 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 missense_variant 6.65852 0.68077 0.57264 0.706298 0.9985851 0 2.340668e-08 FALSE 3.00298e-05 ENSE00002178626_010 ENSE00002178626 010 6 170667270 170667439 + 44 93 33 G A 170667322 2894 53 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACACTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358233 170358234 170358234 exon 9 0.09677419 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACACTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 58 551 1 0.9942019 0.9971009 0.9904857 0.9930605 1 0.8930188 NA NA 0 0.101183 0.9917731 0.9465094 NA 0.05059151 NA FALSE NA 0 -3.007 rs150094606 synonymous_variant LOW FAM120B HGNC 21109 ENST00000476287 6/11 rs150094606&COSM173772 1 NA A:0.0002 A:0 CGC G,A 1.648e-05 6:170358234 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 synonymous_variant 1.428087 0.06817 0.00709 0.706298 0.7146967 0 2.340668e-08 FALSE NA ENSE00002178626_011 ENSE00002178626 011 6 170667270 170667439 + 44 93 33 G A 170667334 2895 65 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAAGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358245 170358246 170358246 exon 21 0.2258065 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAAGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 351 104 0.9908598 0.9811509 0.9860054 0.9904857 0.9930605 1 0.8930188 NA NA -0.00914016 0.08813203 0.9917731 0.9465094 NA 0.03949594 NA FALSE NA 1 1.838 . synonymous_variant LOW FAM120B HGNC 21109 ENST00000476287 6/11 1 NA AGG G,A 8.241e-06 6:170358246 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 synonymous_variant 1.176917 0.95462 0.60741 0.706298 0.5880638 0 2.340668e-08 FALSE NA ENSE00002178626_012 ENSE00002178626 012 6 170667270 170667439 + 44 93 33 T G 170667337 2896 68 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGAGTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358248 170358249 170358249 exon 24 0.2580645 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGAGTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 55 891 1 1 1 0.9904857 0.9930605 1 0.8930188 NA NA 0 0.1069812 0.9917731 0.9465094 NA 0.05349058 NA FALSE NA 0.001 -0.168 . missense_variant MODERATE FAM120B HGNC 21109 ENST00000476287 6/11 1 deleterious(0) probably_damaging(0.941) NA ATT T,G 8.241e-06 6:170358249 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 missense_variant 4.064715 0.88629 0.19442 0.706298 0.9950487 0 2.340668e-08 FALSE 4.22408e-06 ENSE00002178626_014 ENSE00002178626 014 6 170667270 170667439 + 44 93 33 G A 170667346 2898 77 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCATTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358257 170358258 170358258 exon 33 0.3548387 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCATTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 378 1049 0.97845 0.9996984 0.9890742 0.9904857 0.9930605 1 0.8930188 NA NA -0.02155005 0.1066795 0.9917731 0.9465094 NA 0.04256474 NA FALSE NA 0.012 -1.131 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:170358258 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 synonymous_variant 0.725941 0.11765 0.01611 0.706298 0.4626961 0 2.340668e-08 FALSE 1.68183e-05 ENSE00002178626_015 ENSE00002178626 015 6 170667270 170667439 + 44 93 33 G C 170667346 2899 77 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCCTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358257 170358258 170358258 exon 33 0.3548387 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCCTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 453 624 0.8234305 1 0.9117152 0.9904857 0.9930605 1 0.8930188 NA NA -0.1765695 0.1069812 0.9917731 0.9465094 NA -0.03479419 NA FALSE NA 0.012 -1.131 NA NA NA FAM120B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM120B NA NA NA ENSG00000112584 ENSE00002178626 synonymous_variant 0.386684 0.12496 0.01924 0.706298 0.3369771 0 2.340668e-08 FALSE 4.20458e-06 ENSE00002178626_017 ENSE00002178626 017 6 170667270 170667439 + 44 93 33 T C 170667352 2901 83 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATCGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358263 170358264 170358264 exon 39 0.4193548 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATCGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 390 891 0.8334786 0.9868166 0.9101476 0.9904857 0.9930605 1 0.8930188 NA NA -0.1665214 0.09379773 0.9917731 0.9465094 NA -0.03636182 NA FALSE NA 0.997 0.455 . synonymous_variant LOW FAM120B HGNC 21109 ENST00000476287 6/11 COSM1621220&COSM3662298 1 NA TTG T,C 8.24e-06 6:170358264 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 synonymous_variant 0.019619 0.84745 0.40327 0.706298 0.6544727 0 2.340668e-08 FALSE NA ENSE00002178626_019 ENSE00002178626 019 6 170667270 170667439 + 44 93 33 C T 170667354 2903 85 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGTGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358265 170358266 170358266 exon 41 0.4408602 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGTGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 1175 657 1 0.9997592 0.9998796 0.9904857 0.9930605 1 0.8930188 NA NA 0 0.1067404 0.9917731 0.9465094 NA 0.05337018 NA FALSE NA 0.87 3.953 NA NA NA FAM120B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:170358266 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 missense_variant 6.077857 0.96232 0.84815 0.706298 0.9989304 0 2.340668e-08 FALSE 8.43825e-06 ENSE00002178626_022 ENSE00002178626 022 6 170667270 170667439 + 44 93 33 C T 170667387 2906 118 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTTGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358298 170358299 170358299 exon -20 0.7956989 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTTGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 172 216 0.8904679 1 0.945234 0.9904857 0.9930605 1 0.8930188 NA NA -0.1095321 0.1069812 0.9917731 0.9465094 NA -0.001275457 NA FALSE NA 0 -0.003 . missense_variant MODERATE FAM120B HGNC 21109 ENST00000476287 6/11 1 deleterious(0.03) benign(0.007) NA TCG C,T 8.24e-06 6:170358299 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 missense_variant 1.853177 0.13982 0.01475 0.706298 0.9390608 0 2.340668e-08 FALSE NA ENSE00002178626_024 ENSE00002178626 024 6 170667270 170667439 + 44 93 33 G A 170667391 2908 122 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAACTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358302 170358303 170358303 exon -16 0.8387097 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAACTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 422 654 1 0.999416 0.999708 0.9904857 0.9930605 1 0.8930188 NA NA 0 0.1063971 0.9917731 0.9465094 NA 0.05319856 NA FALSE NA 0.994 0.516 . synonymous_variant LOW FAM120B HGNC 21109 ENST00000476287 6/11 1 NA AGC G,A 8.242e-06 6:170358303 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 synonymous_variant 0.05336 0.94187 0.58062 0.706298 0.5696303 0 2.340668e-08 FALSE 1.27809e-05 ENSE00002178626_025 ENSE00002178626 025 6 170667270 170667439 + 44 93 33 A G 170667403 2909 134 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTGCAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358314 170358315 170358315 exon -4 0.9677419 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTGCAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 691 239 0.9658641 0.9924971 0.9791806 0.9904857 0.9930605 1 0.8930188 NA NA -0.03413587 0.09947824 0.9917731 0.9465094 NA 0.03267119 NA FALSE NA 0.09 -0.278 . synonymous_variant LOW FAM120B HGNC 21109 ENST00000476287 6/11 1 NA TAC A,G 8.247e-06 6:170358315 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 synonymous_variant -0.05119 0.55625 0.03111 0.706298 0.4871809 0 2.340668e-08 FALSE NA ENSE00002178626_026 ENSE00002178626 026 6 170667270 170667439 + 44 93 33 G A 170667412 2910 143 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAAACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358323 170358324 170358324 downstr_intron 6 1.1875 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAAACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 27 406 1 0.9983904 0.9991952 0.9904857 0.9930605 1 0.8930188 NA NA 0 0.1053716 0.9917731 0.9465094 NA 0.05268578 NA FALSE NA 0.001 0.885 . splice_region_variant&intron_variant LOW FAM120B HGNC 21109 ENST00000476287 6/10 1 NA AGA G,A 1.65e-05 6:170358324 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 splice_region_variant 0.430422 0.31017 0.07877 0.162113 0.4995306 0.646716 2.340668e-08 FALSE 8.83704e-06 ENSE00002178626_027 ENSE00002178626 027 6 170667270 170667439 + 44 93 33 C A 170667414 2911 145 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGAAGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358325 170358326 170358326 downstr_intron 8 1.25 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGAAGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 226 509 0.8443329 0.8589627 0.8516478 0.9904857 0.9930605 1 0.8930188 NA NA -0.1556671 -0.03405609 0.9917731 0.9465094 NA -0.09486159 NA FALSE NA 0.014 1.375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:170358326 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 splice_region_variant 0.638708 0.19017 0.05984 0.162113 0.342275 0.075442 2.340668e-08 FALSE 2.21647e-05 ENSE00002178626_028 ENSE00002178626 028 6 170667270 170667439 + 44 93 33 C T 170667414 2912 145 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGATGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358325 170358326 170358326 downstr_intron 8 1.25 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGATGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 335 677 0.9307872 1 0.9653936 0.9904857 0.9930605 1 0.8930188 NA NA -0.06921275 0.1069812 0.9917731 0.9465094 NA 0.0188842 NA FALSE NA 0.014 1.375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM120B NA NA NA ENSG00000112584 ENSE00002178626 splice_region_variant 0.545269 0.18168 0.01285 0.162113 0.3307922 0.075442 2.340668e-08 FALSE 3.54635e-05 ENSE00002178626_030 ENSE00002178626 030 6 170667270 170667439 + 44 93 33 G A 170667415 2914 146 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACATGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 170358326 170358327 170358327 downstr_intron 9 1.28125 ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACATGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG mutant NA NA NA NA NA 80 932 1 0.9998303 0.9999151 0.9904857 0.9930605 1 0.8930188 NA NA 0 0.1068114 0.9917731 0.9465094 NA 0.05340572 NA FALSE NA 0 -0.181 NA NA NA FAM120B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:170358327 FAM120B HGNC Symbol protein_coding 116362 ENSG00000112584 ENSE00002178626 intron_variant -0.339651 0.0861 0.00093 0.162113 0.6096453 0.075442 2.340668e-08 FALSE 8.89664e-06 ENSE00002178626_BRK ENSE00002178626 BRK 6 170667270 170667439 + 44 93 33 A,G; T,T NA NA NA ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCTTGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGCCACAGACGTGACCAGTTAGTTGTCACTGCCCG 170358181 170358351 NA NA NA NA NA NA ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCTTGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGCCACAGACGTGACCAGTTAGTTGTCACTGCCCG ATTTTTCCTGTAGCCTAACACTGGCCTTTCTCTGTCCTTTTCAGGTGGACACGCTTTGCCTGGAGGATTTGCATGCGTTTATTGCGCAGGCCTTGTGCCTCCAAGGAAAATCCACCTCGCAGCTTGTAAATCTACAGGTACAGACGTGACCAGTTAGTTGTCACTGCCCG control NA NA NA NA NA 106 166 0.03326923 0 0.01663461 0.9904857 0.9930605 1 0.8930188 NA NA -0.9667308 -0.8930188 0.9917731 0.9465094 NA -0.9298748 NA TRUE NA NA NA NA NA NA FAM120B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FAM120B NA NA NA ENSG00000112584 ENSE00002178626 NA NA NA NA NA NA NA 2.340668e-08 FALSE NA ENSE00002179256_000 ENSE00002179256 000 6 151130737 151130906 + 47 87 36 NA NA NA NA NA CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTACCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCCTGCCAAGACGAGATGTAGACAGTCAGACAACTTGATTCCACCACCC 150809600 150809770 NA NA NA NA NA NA GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG natural 107 69 0.9938574 0.9971774 0.9955174 1837 3685 0.9973307 0.9934551 0.9953929 0.9938574 0.9971774 0.9973307 0.9934551 0 0 0 0 0.9955174 0.9953929 0 0 0 FALSE FALSE NA NA NA NA NA PLEKHG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG1 NA NA NA ENSG00000120278 ENSE00002179256 NA NA NA NA NA NA NA 0.0001786774 FALSE NA ENSE00002179256_001 ENSE00002179256 001 6 151130737 151130906 + 47 87 36 G T 151130755 2420 19 CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTACCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCCTGCCAAGACGAGATGTAGACAGTCAGAAAACTTGATTCCACCACCC 150809600 150809770 150809618 150809619 150809619 upstr_intron -29 -0.5957447 GGGTGGTGGAATCAAGTTTTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG mutant NA NA NA NA NA 106 201 1 1 1 0.9938574 0.9971774 0.9973307 0.9934551 NA NA 0.002669292 0.006544909 0.9955174 0.9953929 NA 0.004607101 NA FALSE NA 0 -0.207 rs74554656 intron_variant&NMD_transcript_variant MODIFIER PLEKHG1 HGNC 20884 ENST00000475490 7/14 rs74554656 1 T:0.0106 T:0.0401 T:0 NA T:0 T:0 T:0 T:0.0275 T:0 TGT G,T 0.002851 6:150809619 PLEKHG1 HGNC Symbol protein_coding 243782 ENSG00000120278 ENSE00002179256 intron_variant 0.081572 0.25713 0.01842 0.106106 0.6791605 0.2273 0.0001786774 FALSE 0.00219079 ENSE00002179256_002 ENSE00002179256 002 6 151130737 151130906 + 47 87 36 G A 151130759 2421 23 CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTACCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCCTGCCAAGACGAGATGTAGACAGTTAGACAACTTGATTCCACCACCC 150809600 150809770 150809622 150809623 150809623 upstr_intron -25 -0.5106383 GGGTGGTGGAATCAAGTTGTCTAACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG mutant NA NA NA NA NA 904 21 0.999086 1 0.999543 0.9938574 0.9971774 0.9973307 0.9934551 NA NA 0.001755244 0.006544909 0.9955174 0.9953929 NA 0.004150077 NA FALSE NA 0 -0.887 . intron_variant&NMD_transcript_variant MODIFIER PLEKHG1 HGNC 20884 ENST00000475490 7/14 1 NA TGA G,A 2.471e-05 6:150809623 PLEKHG1 HGNC Symbol protein_coding 243782 ENSG00000120278 ENSE00002179256 intron_variant 1.176755 0.97093 0.22429 0.106106 0.6710905 0.350642 0.0001786774 FALSE 2.03571e-05 ENSE00002179256_005 ENSE00002179256 005 6 151130737 151130906 + 47 87 36 C T 151130773 2424 37 CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTACCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCCTGCCAAGACAAGATGTAGACAGTCAGACAACTTGATTCCACCACCC 150809600 150809770 150809636 150809637 150809637 upstr_intron -11 -0.212766 GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTTGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG mutant NA NA NA NA NA 195 377 1 1 1 0.9938574 0.9971774 0.9973307 0.9934551 NA NA 0.002669292 0.006544909 0.9955174 0.9953929 NA 0.004607101 NA FALSE NA 0 -0.659 . intron_variant&NMD_transcript_variant MODIFIER PLEKHG1 HGNC 20884 ENST00000475490 7/14 rs554078892 1 T:0.0004 T:0.0008 T:0.0014 NA T:0 T:0 T:0 TCG C,T 7.413e-05 6:150809637 PLEKHG1 HGNC Symbol protein_coding 243782 ENSG00000120278 ENSE00002179256 intron_variant -0.125118 0.25779 0.06467 0.106106 0.353984 0.231153 0.0001786774 FALSE 0.000101686 ENSE00002179256_006 ENSE00002179256 006 6 151130737 151130906 + 47 87 36 G A 151130774 2425 38 CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTACCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCCTGCCAAGATGAGATGTAGACAGTCAGACAACTTGATTCCACCACCC 150809600 150809770 150809637 150809638 150809638 upstr_intron -10 -0.1914894 GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCATCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG mutant NA NA NA NA NA 193 64 0.9993585 1 0.9996793 0.9938574 0.9971774 0.9973307 0.9934551 NA NA 0.00202784 0.006544909 0.9955174 0.9953929 NA 0.004286375 NA FALSE NA 0 -0.173 . intron_variant&NMD_transcript_variant MODIFIER PLEKHG1 HGNC 20884 ENST00000475490 7/14 1 NA CGT G,A 2.471e-05 6:150809638 PLEKHG1 HGNC Symbol protein_coding 243782 ENSG00000120278 ENSE00002179256 intron_variant -0.366166 0.24621 0.04749 0.106106 0.4346487 0.231926 0.0001786774 FALSE 2.43978e-05 ENSE00002179256_009 ENSE00002179256 009 6 151130737 151130906 + 47 87 36 C T 151130807 2428 71 CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTACCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGACGTTTGTCTTGCTGGGATTTGGCCTGCCAAGACGAGATGTAGACAGTCAGACAACTTGATTCCACCACCC 150809600 150809770 150809670 150809671 150809671 exon 24 0.2758621 GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGTCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG mutant NA NA NA NA NA 408 231 1 1 1 0.9938574 0.9971774 0.9973307 0.9934551 NA NA 0.002669292 0.006544909 0.9955174 0.9953929 NA 0.004607101 NA FALSE NA 0.951 0.056 . synonymous_variant&NMD_transcript_variant LOW PLEKHG1 HGNC 20884 ENST00000475490 8/15 1 NA GCC C,T 8.236e-06 6:150809671 PLEKHG1 HGNC Symbol protein_coding 243782 ENSG00000120278 ENSE00002179256 synonymous_variant 1.913266 0.97775 0.80422 0.562547 0.5735315 0 0.0001786774 FALSE 8.12387e-06 ENSE00002179256_010 ENSE00002179256 010 6 151130737 151130906 + 47 87 36 C T 151130817 2429 81 CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTACCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAAAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCCTGCCAAGACGAGATGTAGACAGTCAGACAACTTGATTCCACCACCC 150809600 150809770 150809680 150809681 150809681 exon 34 0.3908046 GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTTTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG mutant NA NA NA NA NA 71 993 1 0.9999617 0.9999808 0.9938574 0.9971774 0.9973307 0.9934551 NA NA 0.002669292 0.006506575 0.9955174 0.9953929 NA 0.004587934 NA FALSE NA 1 2.008 . synonymous_variant&NMD_transcript_variant LOW PLEKHG1 HGNC 20884 ENST00000475490 8/15 rs573960535 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCT C,T 8.236e-06 6:150809681 PLEKHG1 HGNC Symbol protein_coding 243782 ENSG00000120278 ENSE00002179256 synonymous_variant 1.26419 0.98199 0.85097 0.562547 0.6075046 0 0.0001786774 FALSE 4.06138e-06 ENSE00002179256_012 ENSE00002179256 012 6 151130737 151130906 + 47 87 36 C A 151130862 2431 126 CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTACCTTAGCTGTAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCCTGCCAAGACGAGATGTAGACAGTCAGACAACTTGATTCCACCACCC 150809600 150809770 150809725 150809726 150809726 exon -9 0.908046 GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTACAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG mutant NA NA NA NA NA 159 29 0.987227 1 0.9936135 0.9938574 0.9971774 0.9973307 0.9934551 NA NA -0.01010374 0.006544909 0.9955174 0.9953929 NA -0.001779415 NA FALSE NA 1 7.626 . missense_variant&NMD_transcript_variant MODERATE PLEKHG1 HGNC 20884 ENST00000475490 8/15 1 deleterious(0) probably_damaging(0.984) NA TCC C,A 1.647e-05 6:150809726 PLEKHG1 HGNC Symbol protein_coding 243782 ENSG00000120278 ENSE00002179256 missense_variant 5.146814 0.99678 0.997 0.562547 0.9948703 0 0.0001786774 FALSE 2.03179e-05 ENSE00002179256_013 ENSE00002179256 013 6 151130737 151130906 + 47 87 36 C G 151130889 2432 153 CTCTCCCATTTCACTGTCCATTATTCAGTGTCCTACCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCCTGCCAAGACGAGATGTAGACAGTCAGACAACTTGATTCCACCACCC 150809600 150809770 150809752 150809753 150809753 downstr_intron 19 1.542857 GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGGACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG mutant NA NA NA NA NA 135 273 0.9896224 0.9998605 0.9947414 0.9938574 0.9971774 0.9973307 0.9934551 NA NA -0.007708302 0.006405386 0.9955174 0.9953929 NA -0.0006514582 NA FALSE NA 0 -1.554 . intron_variant&NMD_transcript_variant MODIFIER PLEKHG1 HGNC 20884 ENST00000475490 8/14 1 NA GCA C,G 8.236e-06 6:150809753 PLEKHG1 HGNC Symbol protein_coding 243782 ENSG00000120278 ENSE00002179256 intron_variant -0.666307 0.05994 0.00137 0.088506 0.2519039 0.046323 0.0001786774 FALSE NA ENSE00002179256_BRK ENSE00002179256 BRK 6 151130737 151130906 + 47 87 36 A,G; T,T NA NA NA CTCTCCCATTTCACTGTGCATTATTCAGTGTCCTGGCTTAGCTGGAATCTTGGCTGCATGGTTCTCCAGAATCAGTCTCTTTAGGTGCAGAACCCAGAGGCGTTTGTCTTGCTGGGATTTGGCAAGCCAAGACGAGATGTAGACAGTCAGACAACTTGATTCCACCACCC 150809600 150809770 NA NA NA NA NA NA GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCTTGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGCCAGGACACTGAATAATGCACAGTGAAATGGGAGAG GGGTGGTGGAATCAAGTTGTCTGACTGTCTACATCTCGTCTTGGCAGGCCAAATCCCAGCAAGACAAACGCCTCTGGGTTCTGCACCTAAAGAGACTGATTCTGGAGAACCATGCAGCCAAGATTCCAGCTAAGGTAGGACACTGAATAATGCACAGTGAAATGGGAGAG control 138 33 0 0 0 546 63 0.01588326 0 0.007941632 0.9938574 0.9971774 0.9973307 0.9934551 -0.9938574 -0.9971774 -0.9814474 -0.9934551 0.9955174 0.9953929 -0.9955174 -0.9874513 0.008066178 TRUE TRUE NA NA NA NA NA PLEKHG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEKHG1 NA NA NA ENSG00000120278 ENSE00002179256 NA NA NA NA NA NA NA 0.0001786774 FALSE NA ENSE00002202648_000 ENSE00002202648 000 22 42991502 42991671 - 41 78 51 NA NA NA NA NA GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 NA NA NA NA NA NA GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC natural 297 538 0.8519133 0.829463 0.8406882 8106 5110 0.8984678 0.8902596 0.8943637 0.8519133 0.829463 0.8984678 0.8902596 0 0 0 0 0.8406882 0.8943637 0 0 0 FALSE FALSE NA NA NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLDIP3 NA NA NA ENSG00000100227 ENSE00003618547 NA NA NA NA NA NA NA 0.8323199 FALSE NA ENSE00002202648_002 ENSE00002202648 002 22 42991502 42991671 - 41 78 51 A C 42991518 1228 154 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACAGTTAAATCTCAAACTGC 42595495 42595665 42595511 42595512 42595512 downstr_intron 25 1.625 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACAGTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 1244 346 0.8101505 0.8075258 0.8088381 0.8519133 0.829463 0.8984678 0.8902596 NA NA -0.08831729 -0.08273379 0.8406882 0.8943637 NA -0.08552554 NA FALSE NA 0 0.09 . intron_variant&non_coding_transcript_variant MODIFIER POLDIP3 HGNC 23782 ENST00000491021 6/8 1 NA AAT A,C 8.236e-06 22:42595512 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 intron_variant -0.003491 0.25551 0.242 0.256867 0.6677368 0.0563063 0.8323199 FALSE 4.06194e-06 ENSE00002202648_003 ENSE00002202648 003 22 42991502 42991671 - 41 78 51 A G 42991534 1229 138 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACCGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595527 42595528 42595528 downstr_intron 9 1.225 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACCGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 296 233 0.9865629 0.9998365 0.9931997 0.8519133 0.829463 0.8984678 0.8902596 NA NA 0.08809513 0.1095769 0.8406882 0.8943637 NA 0.09883603 NA FALSE NA 0.006 0.2 . intron_variant&non_coding_transcript_variant MODIFIER POLDIP3 HGNC 23782 ENST00000491021 6/8 rs375426292 1 NA G:0 G:0.0001 CAG A,G 5.765e-05 22:42595528 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 intron_variant 1.627751 0.25249 0.11696 0.256867 0.7931197 0.164887 0.8323199 FALSE 5.27957e-05 ENSE00002202648_004 ENSE00002202648 004 22 42991502 42991671 - 41 78 51 G A 42991535 1230 137 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTATTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595528 42595529 42595529 downstr_intron 8 1.2 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTATTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 697 2216 0.9831749 0.9851764 0.9841757 0.8519133 0.829463 0.8984678 0.8902596 NA NA 0.08470715 0.09491685 0.8406882 0.8943637 NA 0.089812 NA FALSE NA 0.038 0.129 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW POLDIP3 HGNC 23782 ENST00000491021 6/8 rs201485471 1 NA AGT G,A 1.647e-05 22:42595529 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 splice_region_variant 1.283029 0.33775 0.12922 0.256867 0.6584064 0.164887 0.8323199 FALSE 3.65524e-05 ENSE00002202648_007 ENSE00002202648 007 22 42991502 42991671 - 41 78 51 G A 42991568 1233 104 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCTTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595561 42595562 42595562 exon -26 0.6794872 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCTTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 183 464 0.9914581 0.9776412 0.9845496 0.8519133 0.829463 0.8984678 0.8902596 NA NA 0.09299035 0.0873816 0.8406882 0.8943637 NA 0.09018597 NA FALSE NA 1 7.488 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER POLDIP3 HGNC 23782 ENST00000491021 6/9 1 NA AGG G,A 1.647e-05 22:42595562 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 missense_variant 6.824926 0.98023 0.98513 0.706548 0.9978609 0 0.8323199 FALSE 8.12242e-06 ENSE00002202648_009 ENSE00002202648 009 22 42991502 42991671 - 41 78 51 A G 42991576 1235 96 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAACCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595569 42595570 42595570 exon -34 0.5769231 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAACCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 204 358 0.9931467 0.9712661 0.9822064 0.8519133 0.829463 0.8984678 0.8902596 NA NA 0.09467894 0.08100654 0.8406882 0.8943637 NA 0.08784274 NA FALSE NA 0.991 0.376 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER POLDIP3 HGNC 23782 ENST00000491021 6/9 rs368412405 1 NA G:0.0002 G:0 GAT A,G 1.647e-05 22:42595570 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 synonymous_variant 0.171724 0.92379 0.7547 0.706548 0.6367752 0 0.8323199 FALSE 2.03067e-05 ENSE00002202648_010 ENSE00002202648 010 22 42991502 42991671 - 41 78 51 C T 42991584 1236 88 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTATGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595577 42595578 42595578 exon 37 0.474359 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTATGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 3870 564 0.8005362 0.8585174 0.8295268 0.8519133 0.829463 0.8984678 0.8902596 NA NA -0.09793161 -0.03174214 0.8406882 0.8943637 NA -0.06483687 NA FALSE NA 1 7.38 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER POLDIP3 HGNC 23782 ENST00000491021 6/9 1 NA ACA C,T 8.236e-06 22:42595578 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 missense_variant 7.323977 0.97952 0.98361 0.706548 0.9988255 0 0.8323199 FALSE 4.06184e-06 ENSE00002202648_012 ENSE00002202648 012 22 42991502 42991671 - 41 78 51 G A 42991586 1238 86 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGATTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595579 42595580 42595580 exon 35 0.4487179 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGATTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 733 1238 0.8039497 0.8072986 0.8056242 0.8519133 0.829463 0.8984678 0.8902596 NA NA -0.09451803 -0.08296098 0.8406882 0.8943637 NA -0.0887395 NA FALSE NA 1 9.31 NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:42595580 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 missense_variant 4.968128 0.98023 0.98889 0.706548 0.9986317 0 0.8323199 FALSE 4.0619e-06 ENSE00002202648_013 ENSE00002202648 013 22 42991502 42991671 - 41 78 51 A G 42991605 1239 67 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCACTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595598 42595599 42595599 exon 16 0.2051282 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCACTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 1401 209 0.8393638 0.8531599 0.8462618 0.8519133 0.829463 0.8984678 0.8902596 NA NA -0.05910394 -0.03709969 0.8406882 0.8943637 NA -0.04810182 NA FALSE NA 0.318 1.168 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER POLDIP3 HGNC 23782 ENST00000491021 6/9 1 NA AAT A,G 8.236e-06 22:42595599 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 missense_variant 1.1271 0.37716 0.53095 0.67177 0.9293737 0 0.8323199 FALSE 4.06283e-06 ENSE00002202648_014 ENSE00002202648 014 22 42991502 42991671 - 41 78 51 G C 42991619 1240 53 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCGTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595612 42595613 42595613 exon 2 0.02564103 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCGTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 2796 1087 0.9262058 0.8971228 0.9116643 0.8519133 0.829463 0.8984678 0.8902596 NA NA 0.02773804 0.006863182 0.8406882 0.8943637 NA 0.01730061 NA FALSE NA 1 6.237 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW POLDIP3 HGNC 23782 ENST00000491021 6/9 1 NA AGG G,C 2.471e-05 22:42595613 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 missense_variant 4.369514 0.95983 0.97522 0.67177 0.9978985 0 0.8323199 FALSE 2.84479e-05 ENSE00002202648_015 ENSE00002202648 015 22 42991502 42991671 - 41 78 51 C A 42991629 1241 43 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTTTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595622 42595623 42595623 upstr_intron -9 -0.1568627 GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTTTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 477 1112 0.9965408 0.7994669 0.8980039 0.8519133 0.829463 0.8984678 0.8902596 NA NA 0.09807307 -0.09079264 0.8406882 0.8943637 NA 0.003640216 NA FALSE NA 0 -1.195 NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:42595623 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 intron_variant -0.458582 0.23704 0.17685 0.069865 0.5118632 0.0852199 0.8323199 FALSE 8.13101e-06 ENSE00002202648_017 ENSE00002202648 017 22 42991502 42991671 - 41 78 51 G A 42991657 1243 15 GAATGCTTATCAGCTATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595650 42595651 42595651 upstr_intron -37 -0.7058824 GAATGCTTATCAGCTATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 574 258 0.9739926 0.9745631 0.9742779 0.8519133 0.829463 0.8984678 0.8902596 NA NA 0.07552482 0.08430356 0.8406882 0.8943637 NA 0.07991419 NA FALSE NA 0 0.208 . intron_variant&non_coding_transcript_variant MODIFIER POLDIP3 HGNC 23782 ENST00000491021 5/8 1 NA TGG G,A 2.471e-05 22:42595651 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 intron_variant 0.022975 0.16305 0.07735 0.069865 0.3272153 0.0939097 0.8323199 FALSE 1.62985e-05 ENSE00002202648_018 ENSE00002202648 018 22 42991502 42991671 - 41 78 51 G A 42991661 1244 11 GAATGCTTATTAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 42595654 42595655 42595655 upstr_intron -41 -0.7843137 GAATGCTTATTAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC mutant NA NA NA NA NA 1325 1032 0.9318259 0.9323833 0.9321046 0.8519133 0.829463 0.8984678 0.8902596 NA NA 0.03335818 0.04212375 0.8406882 0.8943637 NA 0.03774096 NA FALSE NA 0.001 0.431 . intron_variant&non_coding_transcript_variant MODIFIER POLDIP3 HGNC 23782 ENST00000491021 5/8 1 NA TGA G,A 8.236e-06 22:42595655 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003618547 intron_variant 0.409265 0.36046 0.19386 0.069865 0.698653 0.632136 0.8323199 FALSE 1.22378e-05 ENSE00002202648_BRK ENSE00002202648 BRK 22 42991502 42991671 - 41 78 51 A,G; T,T NA NA NA GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCTTCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTCCAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC 42595495 42595665 NA NA NA NA NA NA GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCTTCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTCCAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC GAATGCTTATCAGCCATCTGGCTTCTGGTAATGCTCTTGTCTGTGTGGCAGCCTGTTCTCAGCCCATTGGAAGGCACCAAGATGACTGTGAATAATCTGCACCCTCGAGTCACTGAGGAGGACATTGTTGTAAGTACTGTGACCTACCAAACATTTAAATCTCAAACTGC control 73 110 0 0 0 152 766 0 0 0 0.8519133 0.829463 0.8984678 0.8902596 -0.8519133 -0.829463 -0.8984678 -0.8902596 0.8406882 0.8943637 -0.8406882 -0.8943637 0.0536755 TRUE TRUE NA NA NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLDIP3 NA NA NA ENSG00000100227 ENSE00003618547 NA NA NA NA NA NA NA 0.8323199 FALSE NA ENSE00002205374_000 ENSE00002205374 000 19 49593489 49593658 + 59 63 48 NA NA NA NA NA GTGTCCCTTGCCATTTCCCCCAGTCCTTCCCACCCTGTCACCTCTCTTCTTGTTCCCAGGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAAGTATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA 49090231 49090401 NA NA NA NA NA NA GTGTCCCTTGCCATTTCCCCCAGTCCTTCCCACCCTGTCACCTCTCTTCTTGTTCCCAGGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAAGTATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA GTGTCCCTTGCCATTTCCCCCAGTCCTTCCCACCCTGTCACCTCTCTTCTTGTTCCCAGGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAAGTATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA natural NA NA NA NA NA 330 384 0.8389639 0.983295 0.9111295 NA NA 0.8389639 0.983295 NA NA 0 0 NA 0.9111295 NA 0 NA FALSE NA NA NA NA NA NA SNRNP70 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNRNP70 NA NA NA ENSG00000104852 ENSE00003567241 NA NA NA NA NA NA NA 0.9930951 TRUE NA ENSE00002205374_006 ENSE00002205374 006 19 49593489 49593658 + 59 63 48 T G 49593516 2880 28 GTGTCCCTTGCCATTTCCCCCAGTCCTGCCCACCCTGTCACCTCTCTTCTTGTTCCCAGGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAAGTATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA 49090231 49090401 49090258 49090259 49090259 upstr_intron -32 -0.5254237 GTGTCCCTTGCCATTTCCCCCAGTCCTGCCCACCCTGTCACCTCTCTTCTTGTTCCCAGGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAAGTATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA GTGTCCCTTGCCATTTCCCCCAGTCCTTCCCACCCTGTCACCTCTCTTCTTGTTCCCAGGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAAGTATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA mutant NA NA NA NA NA 24 174 1 1 1 NA NA 0.8389639 0.983295 NA NA 0.1610361 0.01670497 NA 0.9111295 NA 0.08887055 NA FALSE NA 0 0.652 . intron_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 2/4 1 NA TTC T,G 2.471e-05 19:49090259 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003567241 intron_variant 0.958105 0.24648 0.18757 0.283894 0.7064007 0.0878063 0.9930951 TRUE 1.21876e-05 ENSE00002205374_BRK ENSE00002205374 BRK 19 49593489 49593658 + 59 63 48 A,G; T,T NA NA NA GTGTCCCTTGCCATTTCCCCCAGTCCTTCCCACCCTGTCACCTCTCTTCTTGTTCCCTTGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAACCATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA 49090231 49090401 NA NA NA NA NA NA GTGTCCCTTGCCATTTCCCCCAGTCCTTCCCACCCTGTCACCTCTCTTCTTGTTCCCTTGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAACCATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA GTGTCCCTTGCCATTTCCCCCAGTCCTTCCCACCCTGTCACCTCTCTTCTTGTTCCCAGGACCCTCGAGATGCCCCTCCTCCAACTCGTGCTGAAACCCGAGAGGAGCGCATGGAGAGGAAAGTATGTCATTTTTGCTTCCTGACCCCCTGTTTTACCACTGTCTCCAGA control NA NA NA NA NA 117 11 0 0 0 NA NA 0.8389639 0.983295 NA NA -0.8389639 -0.983295 NA 0.9111295 NA -0.9111295 NA TRUE NA NA NA NA NA NA SNRNP70 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNRNP70 NA NA NA ENSG00000104852 ENSE00003567241 NA NA NA NA NA NA NA 0.9930951 TRUE NA ENSE00002207656_000 ENSE00002207656 000 16 71417219 71417388 + 51 78 41 NA NA NA NA NA GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 NA NA NA NA NA NA AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC natural 101 91 0.9727622 0.9721703 0.9724662 3465 3830 0.9715329 0.9373864 0.9544597 0.9727622 0.9721703 0.9715329 0.9373864 0 0 0 0 0.9724662 0.9544597 0 0 0 FALSE FALSE NA NA NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002433272 NA NA NA NA NA NA NA 0.001238901 FALSE NA ENSE00002207656_001 ENSE00002207656 001 16 71417219 71417388 + 51 78 41 C T 71417233 2665 15 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCATGCATTCGGTCCCT 71383315 71383485 71383329 71383330 71383330 upstr_intron -37 -0.7058824 AGGGACCGAATGCATGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 33 576 0.939944 0.9967518 0.9683479 0.9727622 0.9721703 0.9715329 0.9373864 NA NA -0.03158885 0.05936536 0.9724662 0.9544597 NA 0.01388826 NA FALSE NA 0 -1.009 rs111370553 intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 rs111370553 1 T:0.0036 T:0 T:0 NA T:0 T:0.002 T:0.0164 T:0.0009 T:0.0057 ACG C,T 0.005057 16:71383330 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.315335 0.05178 0.00052 0 0.6130072 0.0568111 0.001238901 FALSE 0.00517929 ENSE00002207656_002 ENSE00002207656 002 16 71417219 71417388 + 51 78 41 G A 71417234 2666 16 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTTGTGCATTCGGTCCCT 71383315 71383485 71383330 71383331 71383331 upstr_intron -36 -0.6862745 AGGGACCGAATGCACAAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 729 174 0.9908288 0.99909 0.9949594 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.01929593 0.06170355 0.9724662 0.9544597 NA 0.04049974 NA FALSE NA 0 0.061 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 1 NA CGA G,A 4.942e-05 16:71383331 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.179904 0.15203 0.01934 0 0.5288626 0.0568111 0.001238901 FALSE 7.8284e-05 ENSE00002207656_003 ENSE00002207656 003 16 71417219 71417388 + 51 78 41 A C 71417235 2667 17 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACGCGTGCATTCGGTCCCT 71383315 71383485 71383331 71383332 71383332 upstr_intron -35 -0.6666667 AGGGACCGAATGCACGCGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 51 191 1 0.973429 0.9867145 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.03604261 0.9724662 0.9544597 NA 0.03225487 NA FALSE NA 0 0.138 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 rs551329852 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GAG A,C 8.237e-06 16:71383332 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.307488 0.14121 0.02126 0 0.3911191 0.0561839 0.001238901 FALSE 4.10806e-06 ENSE00002207656_004 ENSE00002207656 004 16 71417219 71417388 + 51 78 41 G C 71417236 2668 18 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGAGTCGTGCATTCGGTCCCT 71383315 71383485 71383332 71383333 71383333 upstr_intron -34 -0.6470588 AGGGACCGAATGCACGACTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 64 387 1 0.9866926 0.9933463 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.04930619 0.9724662 0.9544597 NA 0.03888666 NA FALSE NA 0 0.105 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 rs201550865 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0.0005 C:0.0009 AGT A,C 0.0007578 16:71383333 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.457914 0.16071 0.03091 0 0.3759967 0.0836766 0.001238901 FALSE 0.000800236 ENSE00002207656_005 ENSE00002207656 005 16 71417219 71417388 + 51 78 41 T A 71417237 2669 19 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGTCTCGTGCATTCGGTCCCT 71383315 71383485 71383333 71383334 71383334 upstr_intron -33 -0.627451 AGGGACCGAATGCACGAGACAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 219 129 0.9992995 1 0.9996498 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02776668 0.06261356 0.9724662 0.9544597 NA 0.04519012 NA FALSE NA 0 -0.127 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 1 NA GTC T,A 8.237e-06 16:71383334 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant 0.4552 0.20857 0.04215 0 0.4487191 0.0836766 0.001238901 FALSE 4.10192e-06 ENSE00002207656_006 ENSE00002207656 006 16 71417219 71417388 + 51 78 41 C G 71417238 2670 20 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTCACTCGTGCATTCGGTCCCT 71383315 71383485 71383334 71383335 71383335 upstr_intron -32 -0.6078431 AGGGACCGAATGCACGAGTGAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 1655 175 0.9978811 1 0.9989406 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02634828 0.06261356 0.9724662 0.9544597 NA 0.04448092 NA FALSE NA 0 -0.588 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 1 NA TCA C,G 1.647e-05 16:71383335 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.126378 0.11988 0.01903 0 0.3875472 0.0836766 0.001238901 FALSE 8.19471e-06 ENSE00002207656_007 ENSE00002207656 007 16 71417219 71417388 + 51 78 41 A G 71417252 2671 34 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCCCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383348 71383349 71383349 upstr_intron -18 -0.3333333 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGGGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 200 877 1 0.9955391 0.9977695 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.05815265 0.9724662 0.9544597 NA 0.04330989 NA FALSE NA 0.001 -0.479 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 rs368881886 1 NA G:0 G:0.0001 GAG A,G 8.236e-06 16:71383349 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.121372 0.31665 0.05069 0 0.5682141 0.112189 0.001238901 FALSE 4.07034e-06 ENSE00002207656_008 ENSE00002207656 008 16 71417219 71417388 + 51 78 41 G A 71417253 2672 35 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCTTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383349 71383350 71383350 upstr_intron -17 -0.3137255 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAAGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 312 576 1 1 1 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.06261356 0.9724662 0.9544597 NA 0.04554035 NA FALSE NA 0.006 1.063 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 1 NA AGG G,A 8.236e-06 16:71383350 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.124058 0.18034 0.07726 0 0.5814322 0.112189 0.001238901 FALSE 8.13921e-06 ENSE00002207656_009 ENSE00002207656 009 16 71417219 71417388 + 51 78 41 G A 71417254 2673 36 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGTCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383350 71383351 71383351 upstr_intron -16 -0.2941176 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGACCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 1583 374 0.9995719 0.9976247 0.9985983 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.028039 0.06023829 0.9724662 0.9544597 NA 0.04413864 NA FALSE NA 0 0.329 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 rs371201286 1 NA A:0 A:0.0001 GGC G,A 4.118e-05 16:71383351 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.238842 0.17297 0.02286 0 0.6881388 0.112189 0.001238901 FALSE 5.2907e-05 ENSE00002207656_010 ENSE00002207656 010 16 71417219 71417388 + 51 78 41 C T 71417267 2674 49 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTACAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383363 71383364 71383364 upstr_intron -3 -0.03921569 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGTAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 77 1307 0.9994643 0.9990307 0.9992475 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02793145 0.06164429 0.9724662 0.9544597 NA 0.04478787 NA FALSE NA 0.838 1.428 . splice_region_variant&intron_variant LOW CALB2 HGNC 1435 ENST00000562305 5/9 1 NA GCA C,T 8.236e-06 16:71383364 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 splice_region_variant 1.317056 0.96998 0.64839 0 0.6966976 0.336252 0.001238901 FALSE 8.13035e-06 ENSE00002207656_012 ENSE00002207656 012 16 71417219 71417388 + 51 78 41 G A 71417287 2676 69 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGTAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383383 71383384 71383384 exon 18 0.2307692 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTACTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 143 313 1 1 1 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.06261356 0.9724662 0.9544597 NA 0.04554035 NA FALSE NA 1 1.874 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 6/10 1 NA TGC G,A 8.236e-06 16:71383384 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 synonymous_variant 0.86103 0.97208 0.7871 0.700653 0.646916 0 0.001238901 FALSE 4.06223e-06 ENSE00002207656_014 ENSE00002207656 014 16 71417219 71417388 + 51 78 41 G A 71417296 2678 78 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCTTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383392 71383393 71383393 exon 27 0.3461538 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAAGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 803 296 1 0.9989299 0.9994649 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.06154346 0.9724662 0.9544597 NA 0.0450053 NA FALSE NA 1 0.795 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 6/10 rs374243044 1 NA A:0 A:0.0001 AGG G,A 2.471e-05 16:71383393 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 synonymous_variant 1.061843 0.96148 0.67287 0.700653 0.46062 0 0.001238901 FALSE 2.03079e-05 ENSE00002207656_015 ENSE00002207656 015 16 71417219 71417388 + 51 78 41 C T 71417298 2679 80 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCACCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383394 71383395 71383395 exon 29 0.3717949 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGTGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 239 1369 1 0.9996254 0.9998127 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.06223895 0.9724662 0.9544597 NA 0.04535305 NA FALSE NA 1 6.681 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 6/10 1 tolerated(0.07) benign(0.178) NA GCG C,T 8.236e-06 16:71383395 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 missense_variant 3.982552 0.98972 0.95479 0.700653 0.9984712 0 0.001238901 FALSE 8.12381e-06 ENSE00002207656_019 ENSE00002207656 019 16 71417219 71417388 + 51 78 41 G T 71417304 2683 86 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCAGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383400 71383401 71383401 exon 35 0.4487179 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCTGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 225 253 1 0.9893393 0.9946697 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.05195289 0.9724662 0.9544597 NA 0.04021001 NA FALSE NA 1 5.406 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71383401 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 missense_variant 6.45469 0.99025 0.9566 0.700653 0.9978683 0 0.001238901 FALSE 1.21868e-05 ENSE00002207656_020 ENSE00002207656 020 16 71417219 71417388 + 51 78 41 C T 71417307 2684 89 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACAGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383403 71383404 71383404 exon 38 0.4871795 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCTGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 475 18 0.9251255 1 0.9625628 0.9727622 0.9721703 0.9715329 0.9373864 NA NA -0.04640734 0.06261356 0.9724662 0.9544597 NA 0.008103111 NA FALSE NA 0.999 3.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71383404 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 missense_variant 2.682419 0.96765 0.77116 0.700653 0.8168059 0 0.001238901 FALSE 0.000580843 ENSE00002207656_021 ENSE00002207656 021 16 71417219 71417388 + 51 78 41 C G 71417307 2685 89 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACCGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383403 71383404 71383404 exon 38 0.4871795 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCGGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 894 1057 0.8894446 0.9998143 0.9446295 0.9727622 0.9721703 0.9715329 0.9373864 NA NA -0.08208821 0.06242785 0.9724662 0.9544597 NA -0.00983018 NA FALSE NA 0.999 3.284 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002433272 missense_variant 3.101232 0.96955 0.82159 0.700653 0.9867355 0 0.001238901 FALSE 1.21855e-05 ENSE00002207656_023 ENSE00002207656 023 16 71417219 71417388 + 51 78 41 G A 71417312 2687 94 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATTGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383408 71383409 71383409 exon -36 0.5512821 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACAATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 207 736 1 0.9973185 0.9986593 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.0599321 0.9724662 0.9544597 NA 0.04419962 NA FALSE NA 1 5.46 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 6/10 1 tolerated(0.05) benign(0.063) NA CGA G,A 1.647e-05 16:71383409 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 missense_variant 3.323995 0.98998 0.94814 0.700653 0.9987849 0 0.001238901 FALSE 1.21868e-05 ENSE00002207656_024 ENSE00002207656 024 16 71417219 71417388 + 51 78 41 T C 71417314 2688 96 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCGTCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383410 71383411 71383411 exon -34 0.5769231 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGACGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 1254 408 0.9893311 0.9987781 0.9940546 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.01779819 0.06139167 0.9724662 0.9544597 NA 0.03959493 NA FALSE NA 0.509 0.014 rs114651335 synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 6/10 rs114651335 1 C:0.0038 C:0.0144 C:0 NA C:0 C:0 C:0 C:0.0064 C:0 ATG T,C 0.0006589 16:71383411 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 synonymous_variant -0.62953 0.94561 0.53639 0.700653 0.4758458 0 0.001238901 FALSE 0.000524015 ENSE00002207656_025 ENSE00002207656 025 16 71417219 71417388 + 51 78 41 G A 71417323 2689 105 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGTTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383419 71383420 71383420 exon -25 0.6923077 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAACTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 617 493 0.9951967 0.9959942 0.9955955 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02366384 0.0586078 0.9724662 0.9544597 NA 0.04113582 NA FALSE NA 1 2.927 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 6/10 rs567513210 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 AGC G,A 9.884e-05 16:71383420 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 synonymous_variant 1.594365 0.96644 0.82453 0.700653 0.6393065 0 0.001238901 FALSE 6.90714e-05 ENSE00002207656_026 ENSE00002207656 026 16 71417219 71417388 + 51 78 41 A G 71417328 2690 110 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCCGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383424 71383425 71383425 exon -20 0.7564103 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCGGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 245 533 1 1 1 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.06261356 0.9724662 0.9544597 NA 0.04554035 NA FALSE NA 1 3.984 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 6/10 1 tolerated(0.41) benign(0.133) NA CAG A,G 8.236e-06 16:71383425 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 missense_variant 2.438426 0.97949 0.89414 0.700653 0.9661205 0 0.001238901 FALSE 8.12625e-06 ENSE00002207656_027 ENSE00002207656 027 16 71417219 71417388 + 51 78 41 T C 71417346 2691 128 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCACTGTGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383442 71383443 71383443 exon -2 0.9871795 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCACAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 33 248 0.9349965 0.9843787 0.9596876 0.9727622 0.9721703 0.9715329 0.9373864 NA NA -0.03653636 0.04699225 0.9724662 0.9544597 NA 0.005227942 NA FALSE NA 1 6.869 rs143234572 missense_variant&splice_region_variant MODERATE CALB2 HGNC 1435 ENST00000562305 6/10 rs143234572 1 tolerated(0.1) possibly_damaging(0.461) NA C:0 C:0.0001 ATA T,C 3.295e-05 16:71383443 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 missense_variant 4.917693 0.98682 0.95104 0 0.994195 0 0.001238901 FALSE 2.43914e-05 ENSE00002207656_028 ENSE00002207656 028 16 71417219 71417388 + 51 78 41 G A 71417350 2692 132 GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTTACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383446 71383447 71383447 downstr_intron 3 1.075 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTAAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 2339 1372 0.9926476 0.9944366 0.9935421 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02111477 0.05705017 0.9724662 0.9544597 NA 0.03908247 NA FALSE NA 1 1.11 . splice_region_variant&intron_variant LOW CALB2 HGNC 1435 ENST00000562305 6/9 1 NA TGA G,A 4.942e-05 16:71383447 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 splice_region_variant 1.648653 0.95393 0.54149 0 0.7017329 0.461647 0.001238901 FALSE 2.84682e-05 ENSE00002207656_030 ENSE00002207656 030 16 71417219 71417388 + 51 78 41 G A 71417362 2694 144 GTCCTGCACCCTGGGGGAGAGGGACATTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383458 71383459 71383459 downstr_intron 15 1.375 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAATGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 297 624 0.973214 0.9983361 0.9857751 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.001681126 0.06094968 0.9724662 0.9544597 NA 0.0313154 NA FALSE NA 0 -0.354 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 6/9 1 NA AGT G,A 8.237e-06 16:71383459 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant -0.065746 0.21048 0.03553 0 0.2801966 0.0998598 0.001238901 FALSE 4.07744e-06 ENSE00002207656_031 ENSE00002207656 031 16 71417219 71417388 + 51 78 41 C T 71417374 2695 156 GTCCTGCACCCTGGAGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383470 71383471 71383471 downstr_intron 27 1.675 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCTCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 47 150 1 1 1 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02846714 0.06261356 0.9724662 0.9544597 NA 0.04554035 NA FALSE NA 0.004 0.947 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 6/9 1 NA CCC C,T 8.237e-06 16:71383471 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant 0.232831 0.23743 0.09752 0.061011 0.5882286 0.0538707 0.001238901 FALSE 4.11019e-06 ENSE00002207656_032 ENSE00002207656 032 16 71417219 71417388 + 51 78 41 G A 71417378 2696 160 GTCCTGCACCTTGGGGGAGAGGGACACTTCTGTTCACTCACTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCCTGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 71383474 71383475 71383475 downstr_intron 31 1.775 AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAAGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC mutant NA NA NA NA NA 1530 194 0.9975324 1 0.9987662 0.9727622 0.9721703 0.9715329 0.9373864 NA NA 0.02599955 0.06261356 0.9724662 0.9544597 NA 0.04430656 NA FALSE NA 0.001 -0.266 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 6/9 1 NA AGG G,A 8.237e-06 16:71383475 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002433272 intron_variant 0.358451 0.28447 0.04859 0.061011 0.6528528 0.0538707 0.001238901 FALSE 4.13377e-06 ENSE00002207656_BRK ENSE00002207656 BRK 16 71417219 71417388 + 51 78 41 A,G; T,T NA NA NA GTCCTGCACCCTGGGGGAGAGGGACACTTCTGTTCACTCGGTATGGTTTGGGTGTATTCCTGGAGCTTGGGCTCATCGTACGGCCGGTTCGCCTTCTTCAGCAGGTCTGACAGGAATCCAAGCAACACAAAAGGCCTCTTTAGTACTCCTGACTCGTGCATTCGGTCCCT 71383315 71383485 NA NA NA NA NA NA AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCTTGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATACCGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC AGGGACCGAATGCACGAGTCAGGAGTACTAAAGAGGCCTTTTGTGTTGCAGGGATTCCTGTCAGACCTGCTGAAGAAGGCGAACCGGCCGTACGATGAGCCCAAGCTCCAGGAATACACCCAAACCATAGTGAGTGAACAGAAGTGTCCCTCTCCCCCAGGGTGCAGGAC control NA NA NA NA NA 51 59 0.05214018 0 0.02607009 0.9727622 0.9721703 0.9715329 0.9373864 NA NA -0.9193927 -0.9373864 0.9724662 0.9544597 NA -0.9283896 NA TRUE NA NA NA NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002433272 NA NA NA NA NA NA NA 0.001238901 FALSE NA ENSE00002208005_000 ENSE00002208005 000 19 35979286 35979455 - 57 45 68 NA NA NA NA NA AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 NA NA NA NA NA NA AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT natural 85 66 0.9831845 0.9877765 0.9854805 2359 2538 0.9958302 0.9936841 0.9947572 0.9831845 0.9877765 0.9958302 0.9936841 0 0 0 0 0.9854805 0.9947572 0 0 0 FALSE FALSE NA NA NA NA NA KRTDAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRTDAP NA NA NA ENSG00000188508 ENSE00003595212 NA NA NA NA NA NA NA 0.07533092 FALSE NA ENSE00002208005_001 ENSE00002208005 001 19 35979286 35979455 - 57 45 68 A T 35979297 2084 159 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCAACCCAGGGTAGT 35488383 35488553 35488394 35488395 35488395 downstr_intron 46 1.821429 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCAACCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 996 434 0.9967137 0.9996354 0.9981745 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.0008834556 0.005951279 0.9854805 0.9947572 NA 0.003417367 NA FALSE NA 0.001 0.162 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 4/5 1 NA GAT A,T 8.239e-06 19:35488395 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant 0.156313 0.20016 0.0571 0.053691 0.6108864 0.0492415 0.07533092 FALSE 4.4094e-06 ENSE00002208005_002 ENSE00002208005 002 19 35979286 35979455 - 57 45 68 G A 35979313 2085 143 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTTGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488410 35488411 35488411 downstr_intron 30 1.535714 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTTGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 245 895 0.9968706 1 0.9984353 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.001040347 0.006315859 0.9854805 0.9947572 NA 0.003678103 NA FALSE NA 0.002 0.201 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 4/5 rs375111617 1 NA A:0 A:0.0001 CGA G,A 8.238e-06 19:35488411 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant -0.391554 0.06175 0.00025 0.053691 0.5770068 0.0498921 0.07533092 FALSE 8.46324e-06 ENSE00002208005_003 ENSE00002208005 003 19 35979286 35979455 - 57 45 68 G A 35979319 2086 137 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCTCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488416 35488417 35488417 downstr_intron 24 1.428571 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCTCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 1688 702 0.998256 0.9974584 0.9978572 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.002425845 0.003774291 0.9854805 0.9947572 NA 0.003100068 NA FALSE NA 0 -0.412 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 4/5 1 NA GGG G,A 2.471e-05 19:35488417 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant -0.079772 0.08715 0.00261 0.053691 0.6869445 0.0711086 0.07533092 FALSE 2.10471e-05 ENSE00002208005_004 ENSE00002208005 004 19 35979286 35979455 - 57 45 68 G A 35979327 2087 129 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGTCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488424 35488425 35488425 downstr_intron 16 1.285714 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGTCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 25 366 1 1 1 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.004169796 0.006315859 0.9854805 0.9947572 NA 0.005242828 NA FALSE NA 0.007 0.468 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 4/5 1 NA GGC G,A 1.648e-05 19:35488425 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant 0.079473 0.17892 0.02198 0.053691 0.6160251 0.146488 0.07533092 FALSE 1.25625e-05 ENSE00002208005_005 ENSE00002208005 005 19 35979286 35979455 - 57 45 68 G A 35979329 2088 127 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGTGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488426 35488427 35488427 downstr_intron 14 1.25 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGTGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 184 412 0.9921692 1 0.9960846 0.9831845 0.9877765 0.9958302 0.9936841 NA NA -0.003661053 0.006315859 0.9854805 0.9947572 NA 0.001327403 NA FALSE NA 0 -1.308 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 4/5 1 NA CGC G,A 3.295e-05 19:35488427 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant -0.445509 0.06879 0.00636 0.053691 0.6168819 0.146488 0.07533092 FALSE 2.09174e-05 ENSE00002208005_006 ENSE00002208005 006 19 35979286 35979455 - 57 45 68 C T 35979331 2089 125 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCAGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488428 35488429 35488429 downstr_intron 12 1.214286 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCAGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 158 573 1 0.9977777 0.9988888 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.004169796 0.004093543 0.9854805 0.9947572 NA 0.00413167 NA FALSE NA 0.001 0.103 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 4/5 rs201376412 1 T:0.0008 T:0.003 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 4.943e-05 19:35488429 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant -0.027464 0.19593 0.04258 0.053691 0.4314524 0.12135 0.07533092 FALSE 4.17352e-05 ENSE00002208005_008 ENSE00002208005 008 19 35979286 35979455 - 57 45 68 G C 35979333 2091 123 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTGCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488430 35488431 35488431 downstr_intron 10 1.178571 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTGCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 45 463 1 0.9926929 0.9963465 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.004169796 -0.0009912161 0.9854805 0.9947572 NA 0.00158929 NA FALSE NA 0 -0.617 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 4/5 1 NA GGA G,C 4.119e-05 19:35488431 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant -0.21514 0.18674 0.01408 0.074636 0.4717903 0.236561 0.07533092 FALSE 4.99538e-05 ENSE00002208005_011 ENSE00002208005 011 19 35979286 35979455 - 57 45 68 A C 35979346 2094 110 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTGGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488443 35488444 35488444 exon -4 0.9333333 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTGGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 368 622 0.8049153 1 0.9024577 0.9831845 0.9877765 0.9958302 0.9936841 NA NA -0.1909149 0.006315859 0.9854805 0.9947572 NA -0.09229952 NA FALSE NA 0.222 -1.036 . missense_variant MODERATE KRTDAP HGNC 16313 ENST00000338897 4/6 1 tolerated(0.49) benign(0.117) NA CAA A,C 8.237e-06 19:35488444 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 missense_variant 0.288221 0.54407 0.06248 0.638212 0.9870374 0 0.07533092 FALSE 1.24004e-05 ENSE00002208005_012 ENSE00002208005 012 19 35979286 35979455 - 57 45 68 G A 35979352 2095 104 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCTCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488449 35488450 35488450 exon -10 0.8 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCTCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 941 2343 0.9987376 0.9964504 0.997594 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.002907365 0.002766255 0.9854805 0.9947572 NA 0.00283681 NA FALSE NA 0.81 -0.069 . synonymous_variant LOW KRTDAP HGNC 16313 ENST00000338897 4/6 1 NA GGG G,A 8.237e-06 19:35488450 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 synonymous_variant 0.705526 0.94408 0.46515 0.638212 0.5867236 0 0.07533092 FALSE NA ENSE00002208005_013 ENSE00002208005 013 19 35979286 35979455 - 57 45 68 C T 35979354 2096 102 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACACCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488451 35488452 35488452 exon -12 0.7555556 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACACCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 126 146 1 1 1 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.004169796 0.006315859 0.9854805 0.9947572 NA 0.005242828 NA FALSE NA 0.819 3.485 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:35488452 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 missense_variant 6.731222 0.98045 0.88377 0.638212 0.9992278 0 0.07533092 FALSE 2.89302e-05 ENSE00002208005_014 ENSE00002208005 014 19 35979286 35979455 - 57 45 68 C A 35979354 2097 102 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACTCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488451 35488452 35488452 exon -12 0.7555556 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACTCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 1205 764 0.9967215 0.9980274 0.9973745 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.0008912982 0.004343296 0.9854805 0.9947572 NA 0.002617297 NA FALSE NA 0.819 3.485 NA NA NA KRTDAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRTDAP NA NA NA ENSG00000188508 ENSE00003595212 missense_variant 6.367103 0.98115 0.90195 0.638212 0.9965863 0 0.07533092 FALSE 1.23986e-05 ENSE00002208005_015 ENSE00002208005 015 19 35979286 35979455 - 57 45 68 G A 35979355 2098 101 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCATGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488452 35488453 35488453 exon -13 0.7333333 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCATGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 107 758 0.9448852 0.9995321 0.9722087 0.9831845 0.9877765 0.9958302 0.9936841 NA NA -0.05094496 0.00584796 0.9854805 0.9947572 NA -0.0225485 NA FALSE NA 0.02 -1.53 . synonymous_variant LOW KRTDAP HGNC 16313 ENST00000338897 4/6 1 NA CGT G,A 8.236e-06 19:35488453 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 synonymous_variant -0.002506 0.25328 0.00743 0.638212 0.4629808 0 0.07533092 FALSE 1.23773e-05 ENSE00002208005_016 ENSE00002208005 016 19 35979286 35979455 - 57 45 68 C T 35979379 2099 77 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAAGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488476 35488477 35488477 exon 9 0.2 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAAGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 99 122 0.9995836 1 0.9997918 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.003753362 0.006315859 0.9854805 0.9947572 NA 0.005034611 NA FALSE NA 0 -0.175 . synonymous_variant LOW KRTDAP HGNC 16313 ENST00000338897 4/6 1 NA CCT C,T 8.237e-06 19:35488477 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 synonymous_variant 0.966532 0.19555 0.01843 0.638212 0.3272566 0 0.07533092 FALSE NA ENSE00002208005_017 ENSE00002208005 017 19 35979286 35979455 - 57 45 68 C T 35979385 2100 71 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCATTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488482 35488483 35488483 exon 3 0.06666667 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCATTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 750 273 0.9939793 0.9358991 0.9649392 0.9831845 0.9877765 0.9958302 0.9936841 NA NA -0.001850883 -0.05778505 0.9854805 0.9947572 NA -0.02981796 NA FALSE NA 0.619 0.196 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:35488483 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 splice_region_variant 0.807603 0.72401 0.08603 0.638212 0.5376716 0 0.07533092 FALSE 0.0350124 ENSE00002208005_018 ENSE00002208005 018 19 35979286 35979455 - 57 45 68 C A 35979385 2101 71 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCTTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488482 35488483 35488483 exon 3 0.06666667 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCTTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 974 805 0.9925485 0.9998035 0.996176 0.9831845 0.9877765 0.9958302 0.9936841 NA NA -0.003281669 0.006119346 0.9854805 0.9947572 NA 0.001418839 NA FALSE NA 0.619 0.196 NA NA NA KRTDAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRTDAP NA NA NA ENSG00000188508 ENSE00003595212 splice_region_variant 1.055982 0.55196 0.01116 0.638212 0.4727825 0 0.07533092 FALSE 1.23081e-05 ENSE00002208005_019 ENSE00002208005 019 19 35979286 35979455 - 57 45 68 G A 35979386 2102 70 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGTGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488483 35488484 35488484 exon 2 0.04444444 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGTGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 225 2114 0.9431887 0.9962075 0.9696981 0.9831845 0.9877765 0.9958302 0.9936841 NA NA -0.05264152 0.002523363 0.9854805 0.9947572 NA -0.02505908 NA FALSE NA 0.645 0.103 rs138609743 missense_variant&splice_region_variant MODERATE KRTDAP HGNC 16313 ENST00000338897 4/6 rs138609743 1 tolerated(0.3) benign(0.043) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.002 A:0 CGC G,A 0.0001977 19:35488484 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 missense_variant 2.019737 0.89748 0.27496 0.638212 0.9768861 0 0.07533092 FALSE 0.000147583 ENSE00002208005_020 ENSE00002208005 020 19 35979286 35979455 - 57 45 68 G C 35979390 2103 66 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTGAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488487 35488488 35488488 upstr_intron -3 -0.02941176 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTGAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 18 523 0.8142601 0.9877777 0.9010189 0.9831845 0.9877765 0.9958302 0.9936841 NA NA -0.1815701 -0.005906476 0.9854805 0.9947572 NA -0.09373831 NA FALSE NA 0.095 0.069 . splice_region_variant&intron_variant LOW KRTDAP HGNC 16313 ENST00000338897 3/5 1 NA TGA G,C 1.647e-05 19:35488488 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 splice_region_variant 0.117412 0.73468 0.12161 0.074636 0.4958242 0.383655 0.07533092 FALSE 1.22827e-05 ENSE00002208005_021 ENSE00002208005 021 19 35979286 35979455 - 57 45 68 G A 35979393 2104 63 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTTCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488490 35488491 35488491 upstr_intron -6 -0.07352941 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTTCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 606 1061 0.9999321 0.9886133 0.9942727 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.004101867 -0.005070819 0.9854805 0.9947572 NA -0.000484476 NA FALSE NA 0 -0.188 . splice_region_variant&intron_variant LOW KRTDAP HGNC 16313 ENST00000338897 3/5 rs201220277 1 NA GGA G,A 4.942e-05 19:35488491 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 splice_region_variant 0.065965 0.14167 0.02127 0.074636 0.4912716 0.28981 0.07533092 FALSE 6.95775e-05 ENSE00002208005_022 ENSE00002208005 022 19 35979286 35979455 - 57 45 68 A G 35979415 2105 41 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCCGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488512 35488513 35488513 upstr_intron -28 -0.3970588 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCCGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 906 520 0.9980303 0.9517932 0.9749117 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.002200066 -0.04189093 0.9854805 0.9947572 NA -0.01984543 NA FALSE NA 0 -0.87 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:35488513 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant 1.20675 0.12827 0.00351 0.074636 0.6675486 0.194509 0.07533092 FALSE 4.0806e-06 ENSE00002208005_023 ENSE00002208005 023 19 35979286 35979455 - 57 45 68 A T 35979415 2106 41 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCAGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488512 35488513 35488513 upstr_intron -28 -0.3970588 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCAGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 47 332 1 1 1 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.004169796 0.006315859 0.9854805 0.9947572 NA 0.005242828 NA FALSE NA 0 -0.87 NA NA NA KRTDAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRTDAP NA NA NA ENSG00000188508 ENSE00003595212 intron_variant 1.11556 0.14423 0.01281 0.074636 0.8090401 0.194509 0.07533092 FALSE 4.0806e-06 ENSE00002208005_024 ENSE00002208005 024 19 35979286 35979455 - 57 45 68 T G 35979423 2107 33 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGCGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488520 35488521 35488521 upstr_intron -36 -0.5147059 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGCGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 114 838 1 0.9846951 0.9923476 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.004169796 -0.008989014 0.9854805 0.9947572 NA -0.002409609 NA FALSE NA 0 -0.103 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 3/5 1 NA CTC T,G 8.236e-06 19:35488521 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant 0.975003 0.24554 0.05475 0.074636 0.7793773 0.283172 0.07533092 FALSE 8.15661e-06 ENSE00002208005_025 ENSE00002208005 025 19 35979286 35979455 - 57 45 68 C A 35979424 2108 32 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGTAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 35488521 35488522 35488522 upstr_intron -37 -0.5294118 AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGTAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT mutant NA NA NA NA NA 233 1098 0.998757 0.9940897 0.9964234 0.9831845 0.9877765 0.9958302 0.9936841 NA NA 0.002926825 0.0004055849 0.9854805 0.9947572 NA 0.001666205 NA FALSE NA 0 0.557 . intron_variant MODIFIER KRTDAP HGNC 16313 ENST00000338897 3/5 1 NA TCC C,A 8.236e-06 19:35488522 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003595212 intron_variant 0.768332 0.2864 0.06602 0.074636 0.8639962 0.210404 0.07533092 FALSE 8.16093e-06 ENSE00002208005_BRK ENSE00002208005 BRK 19 35979286 35979455 - 57 45 68 A,G; T,T NA NA NA AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCTTGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGCCGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT 35488383 35488553 NA NA NA NA NA NA AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCTTGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGCCGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT AGGGCTGGGGGCTAAGCTCTGGCCTCCCCTGGAGCTGACCTGCTTCTGCTGTCTCTCTTCCTCCTCAGGCGTTTAAGGCTGATGAGTTCCTGAACTGGCACGCCCTCTTTGAGGTGAGTGCTCCGGCGCCCCTTGCCCTCCTCGGTTGTCTGCAGTCATCCCAGGGTAGT control 510 104 0 0 0 NA NA NA NA NA 0.9831845 0.9877765 0.9958302 0.9936841 -0.9831845 -0.9877765 NA NA 0.9854805 0.9947572 -0.9854805 NA NA NA TRUE NA NA NA NA NA KRTDAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRTDAP NA NA NA ENSG00000188508 ENSE00003595212 NA NA NA NA NA NA NA 0.07533092 FALSE NA ENSE00002211371_000 ENSE00002211371 000 5 110408518 110408687 + 68 45 57 NA NA NA NA NA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA 111072819 111072989 NA NA NA NA NA NA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA natural NA NA NA NA NA 593 515 0.9694002 0.951558 0.9604791 NA NA 0.9694002 0.951558 NA NA 0 0 NA 0.9604791 NA 0 NA FALSE NA NA NA NA NA NA CTC-551A13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSLP NA NA NA ENSG00000145777 ENSE00002211371 NA NA NA NA NA NA NA 0.04478817 FALSE NA ENSE00002211371_004 ENSE00002211371 004 5 110408518 110408687 + 68 45 57 C G 110408551 893 34 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTGTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA 111072819 111072989 111072852 111072853 111072853 upstr_intron -35 -0.5 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTGTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 91 316 1 0.9973057 0.9986528 NA NA 0.9694002 0.951558 NA NA 0.03059978 0.04574766 NA 0.9604791 NA 0.03817372 NA FALSE NA 0.033 1.432 . downstream_gene_variant MODIFIER CTC-551A13.2 Clone_based_vega_gene NA ENST00000507269 1 NA TCT C,G 1.647e-05 5:111072853 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 intron_variant 0.359521 0.24887 0.12606 0.166803 0.3794909 0.0488491 0.04478817 FALSE 2.437e-05 ENSE00002211371_009 ENSE00002211371 009 5 110408518 110408687 + 68 45 57 T C 110408578 898 61 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTCCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA 111072819 111072989 111072879 111072880 111072880 upstr_intron -8 -0.1029412 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTCCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 1444 74 0.9985433 1 0.9992717 NA NA 0.9694002 0.951558 NA NA 0.02914309 0.04844198 NA 0.9604791 NA 0.03879253 NA FALSE NA 0 -1.035 . downstream_gene_variant MODIFIER CTC-551A13.2 Clone_based_vega_gene NA ENST00000507269 1 NA TTC T,C 8.236e-06 5:111072880 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 splice_region_variant -0.002042 0.21715 0.04722 0.166803 0.6986132 0.0623418 0.04478817 FALSE 4.06085e-06 ENSE00002211371_018 ENSE00002211371 018 5 110408518 110408687 + 68 45 57 C A 110408611 907 94 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACAACGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA 111072819 111072989 111072912 111072913 111072913 exon -20 0.5777778 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACAACGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 658 217 0.9968977 1 0.9984488 NA NA 0.9694002 0.951558 NA NA 0.02749744 0.04844198 NA 0.9604791 NA 0.03796971 NA FALSE NA 0 -1.073 . downstream_gene_variant MODIFIER CTC-551A13.2 Clone_based_vega_gene NA ENST00000507269 1 NA ACC C,A 8.236e-06 5:111072913 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 missense_variant 1.015865 0.14428 0.01826 0.437478 0.9455993 0 0.04478817 FALSE NA ENSE00002211371_019 ENSE00002211371 019 5 110408518 110408687 + 68 45 57 T C 110408614 908 97 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGCCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA 111072819 111072989 111072915 111072916 111072916 exon -17 0.6444444 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGCCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 20 14 1 1 1 NA NA 0.9694002 0.951558 NA NA 0.03059978 0.04844198 NA 0.9604791 NA 0.03952088 NA FALSE NA 0 0.031 . downstream_gene_variant MODIFIER CTC-551A13.2 Clone_based_vega_gene NA ENST00000507269 1 NA GTC T,C 8.236e-06 5:111072916 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 missense_variant -0.273678 0.19173 0.03971 0.437478 0.7792863 0 0.04478817 FALSE 4.06072e-06 ENSE00002211371_023 ENSE00002211371 023 5 110408518 110408687 + 68 45 57 T C 110408636 912 119 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGCAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA 111072819 111072989 111072937 111072938 111072938 downstr_intron 6 1.107143 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGCAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 46 340 1 0.984691 0.9923455 NA NA 0.9694002 0.951558 NA NA 0.03059978 0.03313295 NA 0.9604791 NA 0.03186637 NA FALSE NA 0.687 1.133 . downstream_gene_variant MODIFIER CTC-551A13.2 Clone_based_vega_gene NA ENST00000507269 rs199747405 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 C:0 C:0.0003 GTA T,C 0.0002718 5:111072938 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 splice_region_variant 0.966663 0.78483 0.50302 0.166803 0.6717431 0.210608 0.04478817 FALSE NA ENSE00002211371_030 ENSE00002211371 030 5 110408518 110408687 + 68 45 57 G C 110408656 919 139 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGCCTTTCTCCAGGGAGACGCCAGGCATTTTGGA 111072819 111072989 111072957 111072958 111072958 downstr_intron 26 1.464286 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGCCTTTCTCCAGGGAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 12 83 0.8 1 0.9 NA NA 0.9694002 0.951558 NA NA -0.1694002 0.04844198 NA 0.9604791 NA -0.06047912 NA FALSE NA 0.001 0.425 NA NA NA CTC-551A13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:111072958 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 intron_variant 0.649964 0.22965 0.11876 0.166803 0.7278612 0.0911722 0.04478817 FALSE 4.06349e-06 ENSE00002211371_035 ENSE00002211371 035 5 110408518 110408687 + 68 45 57 G C 110408668 924 151 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGCAGACGCCAGGCATTTTGGA 111072819 111072989 111072969 111072970 111072970 downstr_intron 38 1.678571 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGCAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 59 10 1 1 1 NA NA 0.9694002 0.951558 NA NA 0.03059978 0.04844198 NA 0.9604791 NA 0.03952088 NA FALSE NA 0 -0.107 . downstream_gene_variant MODIFIER CTC-551A13.2 Clone_based_vega_gene NA ENST00000507269 rs373550157 1 NA C:0 C:0.0001 GGA G,C 6.589e-05 5:111072970 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 intron_variant 0.160401 0.20737 0.06675 0.166803 0.4728075 0.0911722 0.04478817 FALSE 7.31737e-05 ENSE00002211371_036 ENSE00002211371 036 5 110408518 110408687 + 68 45 57 C T 110408672 925 155 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGATGCCAGGCATTTTGGA 111072819 111072989 111072973 111072974 111072974 downstr_intron 42 1.75 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGATGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 16 112 0.95 1 0.975 NA NA 0.9694002 0.951558 NA NA -0.01940022 0.04844198 NA 0.9604791 NA 0.01452088 NA FALSE NA 0 -1.125 . downstream_gene_variant MODIFIER CTC-551A13.2 Clone_based_vega_gene NA ENST00000507269 1 NA ACG C,T 1.647e-05 5:111072974 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 intron_variant 0.740712 0.12685 0.02597 0.166803 0.8128201 0.0911722 0.04478817 FALSE 8.13458e-06 ENSE00002211371_037 ENSE00002211371 037 5 110408518 110408687 + 68 45 57 G A 110408673 926 156 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACACCAGGCATTTTGGA 111072819 111072989 111072974 111072975 111072975 downstr_intron 43 1.767857 TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACACCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA mutant NA NA NA NA NA 115 34 0.8460344 1 0.9230172 NA NA 0.9694002 0.951558 NA NA -0.1233658 0.04844198 NA 0.9604791 NA -0.03746192 NA FALSE NA 0 -0.322 rs11466740 downstream_gene_variant MODIFIER CTC-551A13.2 Clone_based_vega_gene NA ENST00000507269 rs11466740 1 A:0.0317 A:0.1112 A:0.0144 NA A:0 A:0.002 A:0 A:0.1188 A:0.0007 CGC G,A 0.011 5:111072975 TSLP HGNC Symbol protein_coding 7962 ENSG00000145777 ENSE00002211371 intron_variant 1.016651 0.1566 0.05069 0.166803 0.8071906 0.0911722 0.04478817 FALSE 0.00916203 ENSE00002211371_BRK ENSE00002211371 BRK 5 110408518 110408687 + 68 45 57 A,G; T,T NA NA NA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCTTACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGCCGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA 111072819 111072989 NA NA NA NA NA NA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCTTACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGCCGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA TGGAGGGATGATTTTCCTTGTGGACTTAAAAGTCTTTACCCTCTTTGTCCTATTTTTCTTTCTTCCAGACCAAAAGTACCGAGTTCAACAACACCGTCTCTTGTAGCAATCGGGTGAGTAGAGAGTTCAGTGCTGCTGGCTTTCTCCAGGGAGACGCCAGGCATTTTGGA control 24 15 0 0 0 NA NA NA NA NA NA NA 0.9694002 0.951558 NA NA NA NA NA 0.9604791 NA NA NA NA NA NA NA NA NA NA CTC-551A13.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSLP NA NA NA ENSG00000145777 ENSE00002211371 NA NA NA NA NA NA NA 0.04478817 FALSE NA ENSE00002212809_000 ENSE00002212809 000 16 89717936 89718105 - 41 78 51 NA NA NA NA NA AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 NA NA NA NA NA NA TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT natural 21 12 0.8205456 0.9862261 0.9033858 696 717 0.8449426 0.7473281 0.7961353 0.8205456 0.9862261 0.8449426 0.7473281 0 0 0 0 0.9033858 0.7961353 0 0 0 FALSE FALSE NA NA NA NA NA CHMP1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHMP1A NA NA NA ENSG00000131165 ENSE00003492546 NA NA NA NA NA NA NA 0.2520368 FALSE NA ENSE00002212809_002 ENSE00002212809 002 16 89717936 89718105 - 41 78 51 C T 89717959 3429 147 AAACCAGGAGAGTCATGACCCCATAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651550 89651551 89651551 downstr_intron 18 1.45 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTATGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 31 203 0.8766579 0.8892383 0.8829481 0.8205456 0.9862261 0.8449426 0.7473281 NA NA 0.03171534 0.1419103 0.9033858 0.7961353 NA 0.0868128 NA FALSE NA 0 0.094 . intron_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/3 1 NA ACA C,T 8.267e-06 16:89651551 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 intron_variant -0.576223 0.05546 0.0166 0.256867 0.319558 0.117856 0.2520368 FALSE NA ENSE00002212809_004 ENSE00002212809 004 16 89717936 89718105 - 41 78 51 C A 89717963 3431 143 AAACCAGGAGAGTCATGACCCCACAGCACCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651554 89651555 89651555 downstr_intron 14 1.35 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGTGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant 25 69 0.85 0.85 0.85 NA NA NA NA NA 0.8205456 0.9862261 0.8449426 0.7473281 0.02945444 -0.1362261 NA NA 0.9033858 0.7961353 -0.05338582 NA NA NA FALSE 0.011 0.005 . intron_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/3 1 NA CCC C,A 8.267e-06 16:89651555 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 intron_variant -0.136649 0.12716 0.04185 0.256867 0.3536926 0.117856 0.2520368 FALSE 8.14531e-06 ENSE00002212809_006 ENSE00002212809 006 16 89717936 89718105 - 41 78 51 A C 89717967 3433 139 AAACCAGGAGAGTCATGACCCCACAGCCCCCCGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651558 89651559 89651559 downstr_intron 10 1.25 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCGGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 162 10 0.6572105 0.8 0.7286053 0.8205456 0.9862261 0.8449426 0.7473281 NA NA -0.1877321 0.05267194 0.9033858 0.7961353 NA -0.06753006 NA FALSE NA 0.091 1.97 . intron_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/3 1 NA CAG A,C 8.266e-06 16:89651559 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 intron_variant -0.317784 0.09975 0.02331 0.256867 0.4141288 0.117856 0.2520368 FALSE 4.07067e-06 ENSE00002212809_007 ENSE00002212809 007 16 89717936 89718105 - 41 78 51 G A 89717968 3434 138 AAACCAGGAGAGTCATGACCCCACAGCCCCCAAGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651559 89651560 89651560 downstr_intron 9 1.225 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCTTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 40 86 1 0.8510002 0.9255001 0.8205456 0.9862261 0.8449426 0.7473281 NA NA 0.1550574 0.1036721 0.9033858 0.7961353 NA 0.1293648 NA FALSE NA 0.058 0.955 . intron_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/3 1 NA AGG G,A 8.266e-06 16:89651560 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 intron_variant -0.124305 0.09493 0.02026 0.256867 0.4728955 0.130589 0.2520368 FALSE 4.0707e-06 ENSE00002212809_009 ENSE00002212809 009 16 89717936 89718105 - 41 78 51 T C 89717986 3436 120 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACCTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651577 89651578 89651578 exon -10 0.8846154 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAGGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant 34 48 0.85 0.85 0.85 84 269 0.7782052 0.8 0.7891026 0.8205456 0.9862261 0.8449426 0.7473281 0.02945444 -0.1362261 -0.06673734 0.05267194 0.9033858 0.7961353 -0.05338582 -0.007032704 0.04635312 FALSE FALSE 0.773 -0.346 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/4 1 NA CTT T,C 8.265e-06 16:89651578 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 synonymous_variant 0.684989 0.96605 0.35993 0.706548 0.8875345 0 0.2520368 FALSE 4.06759e-06 ENSE00002212809_012 ENSE00002212809 012 16 89717936 89718105 - 41 78 51 G A 89717999 3439 107 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCACCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651590 89651591 89651591 exon -23 0.7179487 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGTGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant 18 21 0.85 0.85 0.85 20 111 0.8374411 0.8 0.8187205 0.8205456 0.9862261 0.8449426 0.7473281 0.02945444 -0.1362261 -0.007501506 0.05267194 0.9033858 0.7961353 -0.05338582 0.02258521 0.07597104 FALSE FALSE 1 5.821 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/4 COSM3988735&COSM3988736 1 NA CGC G,A 2.48e-05 16:89651591 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 missense_variant 2.637094 0.95799 0.95255 0.706548 0.9965648 0 0.2520368 FALSE 2.03346e-05 ENSE00002212809_013 ENSE00002212809 013 16 89717936 89718105 - 41 78 51 C G 89718001 3440 105 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCGTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651592 89651593 89651593 exon -25 0.6923077 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAACGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 61 590 0.9670466 0.9741888 0.9706177 0.8205456 0.9862261 0.8449426 0.7473281 NA NA 0.122104 0.2268607 0.9033858 0.7961353 NA 0.1744824 NA FALSE NA 1 1.394 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/4 rs371305175 1 NA G:0 G:0.0001 CCT C,G 2.48e-05 16:89651593 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 missense_variant 3.002772 0.96761 0.92528 0.706548 0.995217 0 0.2520368 FALSE 3.65991e-05 ENSE00002212809_015 ENSE00002212809 015 16 89717936 89718105 - 41 78 51 C T 89718016 3442 90 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCTGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651607 89651608 89651608 exon 39 0.5 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCAGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 31 20 0.8 0.9422232 0.8711116 0.8205456 0.9862261 0.8449426 0.7473281 NA NA -0.04494257 0.1948952 0.9033858 0.7961353 NA 0.07497629 NA FALSE NA 0 -3.405 rs183210691 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/4 rs183210691&COSM197850 1 T:0.0006 T:0 T:0.0014 NA T:0.002 T:0 T:0 CCG C,T 1.654e-05 16:89651608 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 synonymous_variant 2.492253 0.11925 0.01468 0.706548 0.7744821 0 0.2520368 FALSE 8.13372e-06 ENSE00002212809_016 ENSE00002212809 016 16 89717936 89718105 - 41 78 51 G A 89718017 3443 89 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCACCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651608 89651609 89651609 exon 38 0.4871795 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGTGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 169 51 0.8136789 0.9019024 0.8577906 0.8205456 0.9862261 0.8449426 0.7473281 NA NA -0.03126371 0.1545744 0.9033858 0.7961353 NA 0.06165532 NA FALSE NA 1 9.378 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/4 1 NA CGC G,A 8.268e-06 16:89651609 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 missense_variant 7.28178 0.99352 0.9935 0.706548 0.9993497 0 0.2520368 FALSE 3.2541e-05 ENSE00002212809_018 ENSE00002212809 018 16 89717936 89718105 - 41 78 51 T C 89718021 3445 85 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTCCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651612 89651613 89651613 exon 34 0.4358974 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGGAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 198 59 0.8875702 0.8 0.8437851 0.8205456 0.9862261 0.8449426 0.7473281 NA NA 0.04262764 0.05267194 0.9033858 0.7961353 NA 0.04764979 NA FALSE NA 1 7.602 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/4 rs374315039 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 TTC T,C 2.48e-05 16:89651613 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 missense_variant 6.054228 0.99106 0.99238 0.706548 0.9983328 0 0.2520368 FALSE 1.22009e-05 ENSE00002212809_019 ENSE00002212809 019 16 89717936 89718105 - 41 78 51 T C 89718024 3446 82 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTCGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651615 89651616 89651616 exon 31 0.3974359 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCGAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant 26 22 0.85 0.85 0.85 78 110 0.2263028 0.3369082 0.2816055 0.8205456 0.9862261 0.8449426 0.7473281 0.02945444 -0.1362261 -0.6186398 -0.4104199 0.9033858 0.7961353 -0.05338582 -0.5145298 0.461144 TRUE FALSE 1 7.602 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 3/4 1 NA TTG T,C 8.268e-06 16:89651616 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 missense_variant 4.80368 0.99106 0.99238 0.706548 0.9987123 0 0.2520368 FALSE 8.13425e-06 ENSE00002212809_020 ENSE00002212809 020 16 89717936 89718105 - 41 78 51 C T 89718031 3447 75 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGTTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651622 89651623 89651623 exon 24 0.3076923 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAACTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant 223 134 0.8475381 0.85 0.8487691 NA NA NA NA NA 0.8205456 0.9862261 0.8449426 0.7473281 0.02699256 -0.1362261 NA NA 0.9033858 0.7961353 -0.05461676 NA NA NA FALSE 0.969 0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:89651623 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 synonymous_variant 1.717738 0.95289 0.59171 0.706548 0.8577357 0 0.2520368 FALSE 0.000715901 ENSE00002212809_024 ENSE00002212809 024 16 89717936 89718105 - 41 78 51 C T 89718060 3451 46 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGTGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651651 89651652 89651652 upstr_intron -6 -0.09803922 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCACTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 340 82 0.9931783 0.9980664 0.9956224 0.8205456 0.9862261 0.8449426 0.7473281 NA NA 0.1482358 0.2507383 0.9033858 0.7961353 NA 0.199487 NA FALSE NA 0 -0.689 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:89651652 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 splice_region_variant 0.37468 0.18693 0.07165 0.115753 0.5572591 0.216278 0.2520368 FALSE 4.48489e-05 ENSE00002212809_025 ENSE00002212809 025 16 89717936 89718105 - 41 78 51 C G 89718060 3452 46 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGGGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651651 89651652 89651652 upstr_intron -6 -0.09803922 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCCCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant 13 11 1 1 1 NA NA NA NA NA 0.8205456 0.9862261 0.8449426 0.7473281 0.1794544 0.01377391 NA NA 0.9033858 0.7961353 0.09661418 NA NA NA FALSE 0 -0.689 NA NA NA CHMP1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHMP1A NA NA NA ENSG00000131165 ENSE00003492546 splice_region_variant 0.117734 0.16931 0.03544 0.115753 0.4947637 0.216278 0.2520368 FALSE 8.15435e-06 ENSE00002212809_026 ENSE00002212809 026 16 89717936 89718105 - 41 78 51 G A 89718061 3453 45 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCAGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651652 89651653 89651653 upstr_intron -7 -0.1176471 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCTGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 245 131 0.991125 0.9668686 0.9789968 0.8205456 0.9862261 0.8449426 0.7473281 NA NA 0.1461824 0.2195406 0.9033858 0.7961353 NA 0.1828615 NA FALSE NA 0 0.426 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CHMP1A HGNC 8740 ENST00000550872 2/3 1 NA CGG G,A 2.481e-05 16:89651653 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 splice_region_variant 0.312756 0.12045 0.00083 0.115753 0.6361753 0.209439 0.2520368 FALSE 2.03862e-05 ENSE00002212809_027 ENSE00002212809 027 16 89717936 89718105 - 41 78 51 G A 89718065 3454 41 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAACCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651656 89651657 89651657 upstr_intron -11 -0.1960784 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGTTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant 16 12 0.9951495 1 0.9975747 NA NA NA NA NA 0.8205456 0.9862261 0.8449426 0.7473281 0.1746039 0.01377391 NA NA 0.9033858 0.7961353 0.09418892 NA NA NA FALSE 0 -1.597 . intron_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 2/3 1 NA AGC G,A 8.27e-06 16:89651657 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 intron_variant -0.130627 0.09791 0.00571 0.115753 0.6669526 0.152678 0.2520368 FALSE 4.07731e-06 ENSE00002212809_028 ENSE00002212809 028 16 89717936 89718105 - 41 78 51 C A 89718067 3455 39 AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCACCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAACTGAGCGGAAGCAGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 89651658 89651659 89651659 upstr_intron -13 -0.2352941 TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCTGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT mutant NA NA NA NA NA 134 258 0.9388302 0.8781046 0.9084674 0.8205456 0.9862261 0.8449426 0.7473281 NA NA 0.09388767 0.1307765 0.9033858 0.7961353 NA 0.1123321 NA FALSE NA 0 -2.07 . intron_variant&non_coding_transcript_variant MODIFIER CHMP1A HGNC 8740 ENST00000550872 2/3 rs398122918 1 NA CCG C,A 8.27e-06 16:89651659 CHMP1A HGNC Symbol protein_coding 13414 ENSG00000131165 ENSE00003492546 intron_variant 0.104583 0.20852 0.01564 0.115753 0.3797759 0.0952059 0.2520368 FALSE 4.07997e-06 ENSE00002212809_BRK ENSE00002212809 BRK 16 89717936 89718105 - 41 78 51 A,G; T,T NA NA NA AAACCAGGAGAGTCATGACCCCACAGCCCCCAGGGTCTCGGCTTCTTCACTTTGGCCTGCTCCGCCTTGGAGTCCTTCTCCGCCTTCTTGGCCAGCTTCTCCAGCTGCTTCGCCGTGAAAAGAGCGGAAGCCGGAATGTCCTGGGTCAGACATGCGGAGCCCATCCCCCA 89651527 89651697 NA NA NA NA NA NA TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCTTTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGCCGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT TGGGGGATGGGCTCCGCATGTCTGACCCAGGACATTCCGGCTTCCGCTCAGTTCACGGCGAAGCAGCTGGAGAAGCTGGCCAAGAAGGCGGAGAAGGACTCCAAGGCGGAGCAGGCCAAAGTGAAGAAGGTGAGACCCTGGGGGCTGTGGGGTCATGACTCTCCTGGTTT control 80 48 0 0.01361246 0.006806232 NA NA NA NA NA 0.8205456 0.9862261 0.8449426 0.7473281 -0.8205456 -0.9726136 NA NA 0.9033858 0.7961353 -0.8965796 NA NA NA TRUE NA NA NA NA NA CHMP1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHMP1A NA NA NA ENSG00000131165 ENSE00003492546 NA NA NA NA NA NA NA 0.2520368 FALSE NA ENSE00002214448_000 ENSE00002214448 000 21 43362226 43362395 - 30 99 41 NA NA NA NA NA CCTCCTGTGCATGCCCTCCTCATGCTGCCCCTCTGTTCCAGGGCCCACCTTTCCTGTCCTTTGAGGAGGACCCGCGGCAGCAGGCACTGGAGCTGGTGGTGCAGGAGGTCTCCAGCGTGCTCAGGTCGGCGGAGGAGAAGGTGAGCCCAGGAGCCCATTCCCTGCAGGAA 41942116 41942286 NA NA NA NA NA NA CCTCCTGTGCATGCCCTCCTCATGCTGCCCCTCTGTTCCAGGGCCCACCTTTCCTGTCCTTTGAGGAGGACCCGCGGCAGCAGGCACTGGAGCTGGTGGTGCAGGAGGTCTCCAGCGTGCTCAGGTCGGCGGAGGAGAAGGTGAGCCCAGGAGCCCATTCCCTGCAGGAA CCTCCTGTGCATGCCCTCCTCATGCTGCCCCTCTGTTCCAGGGCCCACCTTTCCTGTCCTTTGAGGAGGACCCGCGGCAGCAGGCACTGGAGCTGGTGGTGCAGGAGGTCTCCAGCGTGCTCAGGTCGGCGGAGGAGAAGGTGAGCCCAGGAGCCCATTCCCTGCAGGAA natural NA NA NA NA NA 160 398 0.960391 0.9614029 0.960897 NA NA 0.960391 0.9614029 NA NA 0 0 NA 0.960897 NA 0 NA FALSE NA NA NA NA NA NA C2CD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA C2CD2 NA NA NA ENSG00000157617 ENSE00002214448 NA NA NA NA NA NA NA 0.06002825 FALSE NA ENSE00002214448_005 ENSE00002214448 005 21 43362226 43362395 - 30 99 41 C T 43362268 232 128 CCTCCTGTGCATGCCCTCCTCATGCTGCCCCTCTGTTCCAGGGCCCACCTTTCCTGTCCTTTGAGGAGGACCCGCGGCAGCAGGCACTGGAGCTGGTGGTGCAGGAGGTCTCCAGCGTGCTCAGGTCAGCGGAGGAGAAGGTGAGCCCAGGAGCCCATTCCCTGCAGGAA 41942116 41942286 41942158 41942159 41942159 exon -13 0.8787879 CCTCCTGTGCATGCCCTCCTCATGCTGCCCCTCTGTTCCAGGGCCCACCTTTCCTGTCCTTTGAGGAGGACCCGCGGCAGCAGGCACTGGAGCTGGTGGTGCAGGAGGTCTCCAGCGTGCTCAGGTCAGCGGAGGAGAAGGTGAGCCCAGGAGCCCATTCCCTGCAGGAA CCTCCTGTGCATGCCCTCCTCATGCTGCCCCTCTGTTCCAGGGCCCACCTTTCCTGTCCTTTGAGGAGGACCCGCGGCAGCAGGCACTGGAGCTGGTGGTGCAGGAGGTCTCCAGCGTGCTCAGGTCGGCGGAGGAGAAGGTGAGCCCAGGAGCCCATTCCCTGCAGGAA mutant NA NA NA NA NA 33 13 1 1 1 NA NA 0.960391 0.9614029 NA NA 0.03960903 0.03859706 NA 0.960897 NA 0.03910304 NA FALSE NA 0 -2.361 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C2CD2 HGNC 1266 ENST00000490479 1/6 1 NA CCG C,T 5.241e-05 21:41942159 C2CD2 HGNC Symbol protein_coding 68778 ENSG00000157617 ENSE00002214448 synonymous_variant 1.202031 0.10717 0.00434 0.615465 0.5364848 0 0.06002825 FALSE 4.75492e-05 ENSE00002214498_000 ENSE00002214498 000 17 48273231 48273400 - 53 54 63 NA NA NA NA NA CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 NA NA NA NA NA NA CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT natural 88 113 0.9966763 0.9971754 0.9969258 1428 1791 0.9937339 0.9637017 0.9787178 0.9966763 0.9971754 0.9937339 0.9637017 0 0 0 0 0.9969258 0.9787178 0 0 0 FALSE FALSE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00002214498 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002214498_001 ENSE00002214498 001 17 48273231 48273400 - 53 54 63 G T 48273253 2500 148 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGAACCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195891 50195892 50195892 downstr_intron 31 1.596154 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGAACCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 613 41 1 0.9961229 0.9980614 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006266055 0.03242118 0.9969258 0.9787178 NA 0.01934362 NA FALSE NA 0 -0.137 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGT G,T 7.549e-05 17:50195892 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 intron_variant 0.196267 0.21976 0.14733 0.106106 0.6072319 0.0502876 1 TRUE 0.000156179 ENSE00002214498_002 ENSE00002214498 002 17 48273231 48273400 - 53 54 63 C T 48273255 2501 146 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATAACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195893 50195894 50195894 downstr_intron 29 1.557692 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATAACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 15 214 1 0.993907 0.9969535 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006266055 0.03020534 0.9969258 0.9787178 NA 0.0182357 NA FALSE NA 0 -1.425 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs376783395 1 NA T:0 T:0.0001 TCA C,T 1.675e-05 17:50195894 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 intron_variant 0.799434 0.18473 0.04308 0.106106 0.7263784 0.0502876 1 TRUE 2.97011e-05 ENSE00002214498_004 ENSE00002214498 004 17 48273231 48273400 - 53 54 63 G A 48273275 2503 126 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCTCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195913 50195914 50195914 downstr_intron 9 1.173077 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCTCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 200 37 1 0.9475866 0.9737933 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006266055 -0.01611507 0.9969258 0.9787178 NA -0.004924507 NA FALSE NA 0.004 0.453 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGG G,A 8.303e-06 17:50195914 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 intron_variant 1.792513 0.25705 0.13512 0.088506 0.8141004 0.115001 1 TRUE NA ENSE00002214498_005 ENSE00002214498 005 17 48273231 48273400 - 53 54 63 G C 48273276 2504 125 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACGCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195914 50195915 50195915 downstr_intron 8 1.153846 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACGCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 37 364 1 0.9965826 0.9982913 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006266055 0.03288092 0.9969258 0.9787178 NA 0.01957349 NA FALSE NA 0.001 0.856 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGG G,C 8.302e-06 17:50195915 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 splice_region_variant 1.136547 0.25844 0.07855 0.088506 0.7442835 0.115001 1 TRUE 5.44188e-06 ENSE00002214498_006 ENSE00002214498 006 17 48273231 48273400 - 53 54 63 C T 48273281 2505 120 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTAAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195919 50195920 50195920 downstr_intron 3 1.057692 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTAAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 39 122 0.9767898 1 0.9883949 0.9966763 0.9971754 0.9937339 0.9637017 NA NA -0.01694418 0.03629832 0.9969258 0.9787178 NA 0.009677072 NA FALSE NA 1 0.874 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs367802613 1 NA T:0 T:0.0003 TCA C,T 1.658e-05 17:50195920 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 splice_region_variant 2.523262 0.93276 0.38385 0.088506 0.9459129 0.832725 1 TRUE 2.65907e-05 ENSE00002214498_007 ENSE00002214498 007 17 48273231 48273400 - 53 54 63 A G 48273282 2506 119 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGCGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195920 50195921 50195921 downstr_intron 2 1.038462 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGCGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant 63 24 0 0 0 NA NA NA NA NA 0.9966763 0.9971754 0.9937339 0.9637017 -0.9966763 -0.9971754 NA NA 0.9969258 0.9787178 -0.9969258 NA NA NA TRUE 1 5.265 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA CAC A,G 5.8e-05 17:50195921 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 splice_donor_variant 5.518813 0.96636 0.93522 0.106106 0.9945758 0.973007 1 TRUE 3.6985e-05 ENSE00002214498_008 ENSE00002214498 008 17 48273231 48273400 - 53 54 63 C A 48273295 2507 106 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTTTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195933 50195934 50195934 exon -12 0.7962963 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTTTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 178 255 0.9964795 0.9950767 0.9957781 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.002745594 0.031375 0.9969258 0.9787178 NA 0.0170603 NA FALSE NA 1 1.307 rs72645362 upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs72645362&CM086455 1 NA ACA C,A 4.96e-05 17:50195934 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 missense_variant 4.6133 0.92314 0.92976 0.732398 0.987929 0 1 TRUE NA ENSE00002214498_009 ENSE00002214498 009 17 48273231 48273400 - 53 54 63 C T 48273298 2508 103 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTACTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195936 50195937 50195937 exon -15 0.7407407 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTACTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 107 187 1 0.811477 0.9057385 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006266055 -0.1522247 0.9969258 0.9787178 NA -0.07297931 NA FALSE NA 1 6.017 rs139955975 upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs139955975 1 NA T:0.0005 T:0.0003 GCA C,T 0.0001322 17:50195937 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 missense_variant 3.644021 0.94997 0.92069 0.732398 0.9952679 0 1 TRUE 0.000142071 ENSE00002214498_011 ENSE00002214498 011 17 48273231 48273400 - 53 54 63 G A 48273304 2510 97 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCTCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195942 50195943 50195943 exon -21 0.6296296 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCTCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 142 43 1 1 1 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006266055 0.03629832 0.9969258 0.9787178 NA 0.02128219 NA FALSE NA 1 9.767 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGG G,A 8.26e-06 17:50195943 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 missense_variant 4.768352 0.97469 0.98657 0.732398 0.9969853 0 1 TRUE NA ENSE00002214498_012 ENSE00002214498 012 17 48273231 48273400 - 53 54 63 G A 48273315 2511 86 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195953 50195954 50195954 exon 23 0.4259259 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 291 922 0.9849162 0.9985788 0.9917475 0.9966763 0.9971754 0.9937339 0.9637017 NA NA -0.008817794 0.03487713 0.9969258 0.9787178 NA 0.01302967 NA FALSE NA 1 9.751 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AGG G,A 1.651e-05 17:50195954 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 missense_variant 3.593369 0.96223 0.98247 0.732398 0.9915343 0 1 TRUE NA ENSE00002214498_014 ENSE00002214498 014 17 48273231 48273400 - 53 54 63 C T 48273322 2513 79 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCACTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195960 50195961 50195961 exon 16 0.2962963 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCACTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 296 312 0.9953074 0.9936777 0.9944925 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.001573447 0.02997598 0.9969258 0.9787178 NA 0.01577471 NA FALSE NA 0.981 3.076 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 COSM436828 1 NA GCG C,T 1.651e-05 17:50195961 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 missense_variant 4.256569 0.94087 0.92598 0.732398 0.9933924 0 1 TRUE NA ENSE00002214498_016 ENSE00002214498 016 17 48273231 48273400 - 53 54 63 C T 48273328 2515 73 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCAGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195966 50195967 50195967 exon 10 0.1851852 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCAGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 33 212 1 0.9992533 0.9996266 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006266055 0.03555158 0.9969258 0.9787178 NA 0.02090882 NA FALSE NA 1 7.739 rs66664580 upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs66664580&CM062526&CM070686 1 NA CCG C,T 1.651e-05 17:50195967 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 missense_variant 5.491746 0.96227 0.97636 0.732398 0.9923358 0 1 TRUE NA ENSE00002214498_017 ENSE00002214498 017 17 48273231 48273400 - 53 54 63 A T 48273335 2516 66 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGACCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50195973 50195974 50195974 exon 3 0.05555556 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGACCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant 24 14 1 1 1 1016 16 0.9984883 1 0.9992441 0.9966763 0.9971754 0.9937339 0.9637017 0.003323727 0.002824634 0.004754333 0.03629832 0.9969258 0.9787178 0.00307418 0.02052633 0.01745215 FALSE FALSE 0.974 0.219 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs375914028 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0003 GAC A,T 0.0006354 17:50195974 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 splice_region_variant 1.349091 0.91663 0.73526 0.732398 0.8661922 0 1 TRUE 0.000614495 ENSE00002214498_019 ENSE00002214498 019 17 48273231 48273400 - 53 54 63 G A 48273363 2518 38 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTTGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50196001 50196002 50196002 upstr_intron -26 -0.3968254 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTTGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant 33 17 0.9988903 0.9796139 0.9892521 NA NA NA NA NA 0.9966763 0.9971754 0.9937339 0.9637017 0.00221401 -0.01756146 NA NA 0.9969258 0.9787178 -0.007673726 NA NA NA FALSE 0 -2.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:50196002 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 intron_variant 0.213683 0.17751 0.01862 0.088506 0.5223531 0.0819447 1 TRUE 9.3755e-06 ENSE00002214498_020 ENSE00002214498 020 17 48273231 48273400 - 53 54 63 G C 48273363 2519 38 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTGGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50196001 50196002 50196002 upstr_intron -26 -0.3968254 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTGGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 986 270 1 1 1 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006266055 0.03629832 0.9969258 0.9787178 NA 0.02128219 NA FALSE NA 0 -2.049 NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00002214498 intron_variant -0.080424 0.18896 0.06779 0.088506 0.4847038 0.0819447 1 TRUE 1.40632e-05 ENSE00002214498_021 ENSE00002214498 021 17 48273231 48273400 - 53 54 63 A G 48273367 2520 34 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCCTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50196005 50196006 50196006 upstr_intron -30 -0.4603175 CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCCTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 734 226 0.9999439 1 0.999972 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.006209975 0.03629832 0.9969258 0.9787178 NA 0.02125415 NA FALSE NA 0.973 0.636 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs199805116 1 G:0.0004 G:0 G:0.0014 NA G:0.001 G:0 G:0 AAG A,G 0.0001072 17:50196006 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 intron_variant 0.144066 0.29075 0.18983 0.088506 0.6737328 0.0819447 1 TRUE 0.000180255 ENSE00002214498_022 ENSE00002214498 022 17 48273231 48273400 - 53 54 63 A C 48273371 2521 30 CCCAGGGTGTGACTTGCAGCTGCCATCTCGTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50196009 50196010 50196010 upstr_intron -34 -0.5238095 CCCAGGGTGTGACTTGCAGCTGCCATCTCGTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 39 1380 0.9489424 1 0.9744712 0.9966763 0.9971754 0.9937339 0.9637017 NA NA -0.04479156 0.03629832 0.9969258 0.9787178 NA -0.00424662 NA FALSE NA 0.879 0.277 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AAG A,C 8.245e-06 17:50196010 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 intron_variant -0.337602 0.26503 0.41604 0.088506 0.4820331 0.0819447 1 TRUE 4.61834e-06 ENSE00002214498_023 ENSE00002214498 023 17 48273231 48273400 - 53 54 63 T G 48273376 2522 25 CCCAGGGTGTGACTTGCAGCTGCCCTCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 50196014 50196015 50196015 upstr_intron -39 -0.6031746 CCCAGGGTGTGACTTGCAGCTGCCCTCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT mutant NA NA NA NA NA 364 413 0.9957402 1 0.9978701 0.9966763 0.9971754 0.9937339 0.9637017 NA NA 0.002006283 0.03629832 0.9969258 0.9787178 NA 0.0191523 NA FALSE NA 0.001 -0.729 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs372017541 1 NA C:0 C:0.0001 ATG T,G 8.244e-06 17:50196015 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00002214498 intron_variant 0.166749 0.24944 0.07527 0.088506 0.5743441 0.0585986 1 TRUE 4.59251e-06 ENSE00002214498_BRK ENSE00002214498 BRK 17 48273231 48273400 - 53 54 63 A,G; T,T NA NA NA CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACTTGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGCCGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT 50195869 50196039 NA NA NA NA NA NA CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACTTGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGCCGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT CCCAGGGTGTGACTTGCAGCTGCCATCTCTTCCTTCTCGCTGACATCTCCATTTCATTCACAGGGTCCCACCGGCCCCGCTGGTCCTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCAT control 74 43 0 0 0 189 108 0.004806313 0 0.002403156 0.9966763 0.9971754 0.9937339 0.9637017 -0.9966763 -0.9971754 -0.9889276 -0.9637017 0.9969258 0.9787178 -0.9969258 -0.9763147 0.02061116 TRUE TRUE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00002214498 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002214621_000 ENSE00002214621 000 16 88071508 88071677 + 71 39 60 NA NA NA NA NA GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA 88037901 88038071 NA NA NA NA NA NA GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA natural 24 12 0.9944201 0.9975141 0.9959671 322 41 0.9811347 1 0.9905674 0.9944201 0.9975141 0.9811347 1 0 0 0 0 0.9959671 0.9905674 0 0 0 FALSE FALSE NA NA NA NA NA BANP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BANP NA NA NA ENSG00000172530 ENSE00003683876 NA NA NA NA NA NA NA 0.9586477 TRUE NA ENSE00002214621_013 ENSE00002214621 013 16 88071508 88071677 + 71 39 60 C T 88071599 3274 92 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCATGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA 88037901 88038071 88037992 88037993 88037993 exon -19 0.5384615 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCATGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA mutant NA NA NA NA NA 92 64 0.9954391 1 0.9977196 0.9944201 0.9975141 0.9811347 1 NA NA 0.0143044 0 0.9959671 0.9905674 NA 0.007152198 NA FALSE NA 0.362 -1.058 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/2 COSM974670&COSM1153016 1 NA ACG C,T 8.236e-06 16:88037993 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00003683876 synonymous_variant 1.896927 0.93726 0.20008 0.6512 0.6378311 0 0.9586477 TRUE 1.21974e-05 ENSE00002214621_021 ENSE00002214621 021 16 88071508 88071677 + 71 39 60 C T 88071634 3282 127 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCTCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA 88037901 88038071 88038027 88038028 88038028 downstr_intron 17 1.288136 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCTCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA mutant NA NA NA NA NA 56 203 1 0.9965525 0.9982762 0.9944201 0.9975141 0.9811347 1 NA NA 0.01886529 -0.0034475 0.9959671 0.9905674 NA 0.007708895 NA FALSE NA 0.001 0.593 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA CCC C,T 8.236e-06 16:88038028 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00003683876 intron_variant 0.167739 0.19122 0.00584 0.088506 0.6156314 0.0589464 0.9586477 TRUE 8.13266e-06 ENSE00002214621_024 ENSE00002214621 024 16 88071508 88071677 + 71 39 60 G A 88071644 3285 137 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATACGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA 88037901 88038071 88038037 88038038 88038038 downstr_intron 27 1.457627 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATACGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA mutant NA NA NA NA NA 26 59 1 1 1 0.9944201 0.9975141 0.9811347 1 NA NA 0.01886529 0 0.9959671 0.9905674 NA 0.009432645 NA FALSE NA 0 -0.336 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA TGC G,A 2.471e-05 16:88038038 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00003683876 intron_variant 0.014875 0.11109 0.00502 0.088506 0.6728369 0.0589464 0.9586477 TRUE 1.22037e-05 ENSE00002214621_031 ENSE00002214621 031 16 88071508 88071677 + 71 39 60 G C 88071658 3292 151 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTCCCGAGGGATGGGGTTCTCA 88037901 88038071 88038051 88038052 88038052 downstr_intron 41 1.694915 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTCCCGAGGGATGGGGTTCTCA GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA mutant NA NA NA NA NA 225 16 0.9987126 1 0.9993563 0.9944201 0.9975141 0.9811347 1 NA NA 0.01757788 0 0.9959671 0.9905674 NA 0.00878894 NA FALSE NA 0 -0.569 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 1 NA TGC G,C 1.647e-05 16:88038052 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00003683876 intron_variant -0.12035 0.09217 0.004 0.088506 0.7267654 0.0589464 0.9586477 TRUE 1.22186e-05 ENSE00002214621_033 ENSE00002214621 033 16 88071508 88071677 + 71 39 60 G A 88071661 3294 154 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCAAGGGATGGGGTTCTCA 88037901 88038071 88038054 88038055 88038055 downstr_intron 44 1.745763 GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCAAGGGATGGGGTTCTCA GTGTTTGCCGTGTCTGAGGGTGTCTTGGTGTGTTTCTACTCATGACCGTCTCCTCCTCTCGTTCTTTGTAGGGCAACCTCCAGATCCATCACGTGGGGCAGGACGGTCAGGTGAGTGTCCCAGTCCCCATGCACATGCGGGCGTTGCGCTGCCGAGGGATGGGGTTCTCA mutant NA NA NA NA NA 819 73 0.9960265 0.9956421 0.9958343 0.9944201 0.9975141 0.9811347 1 NA NA 0.01489183 -0.004357902 0.9959671 0.9905674 NA 0.005266965 NA FALSE NA 0 -0.549 . intron_variant&non_coding_transcript_variant MODIFIER BANP HGNC 13450 ENST00000565242 1/1 rs370698328 1 NA A:0.0002 A:0 CGA G,A 4.118e-05 16:88038055 BANP HGNC Symbol protein_coding 128074 ENSG00000172530 ENSE00003683876 intron_variant -0.008891 0.06551 0.00276 0.088506 0.7646124 0.0589464 0.9586477 TRUE 3.25826e-05 ENSE00002215495_000 ENSE00002215495 000 19 54647351 54647520 + 45 90 35 NA NA NA NA NA CCCACCTCTCTGGGACTCAGGCTCTGGGCTCCTACCGTCTCAATGAGCTTGCGGTTGTCTATAAGCTGCCTCTTGTCCTTGATCTCGTTGGACGCTACCCATGTCTTGATTTGGTCCCTCAGCCGCTGCAGATGGGAAAAGCAAGAAAGTCAGACCTCAGGACCCAGGAA 54143614 54143784 NA NA NA NA NA NA TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG natural 20 13 0.9248078 0.9689334 0.9468706 795 499 0.9995332 0.9996829 0.9996081 0.9248078 0.9689334 0.9995332 0.9996829 0 0 0 0 0.9468706 0.9996081 0 0 0 FALSE FALSE NA NA NA NA NA CNOT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNOT3 NA NA NA ENSG00000088038 ENSE00003658561 NA NA NA NA NA NA NA 0.9999672 TRUE NA ENSE00002215495_002 ENSE00002215495 002 19 54647351 54647520 + 45 90 35 C T 54647385 3158 35 CCCACCTCTCTGGGACTCAGGCTCTGGGCTCCTACCGTCTCAATGAGCTTGCGGTTGTCTATAAGCTGCCTCTTGTCCTTGATCTCGTTGGACGCTACCCATGTCTTGATTTGGTCCCTCAGCCGCTGCAGATGGAAAAAGCAAGAAAGTCAGACCTCAGGACCCAGGAA 54143614 54143784 54143648 54143649 54143649 upstr_intron -11 -0.2222222 TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTTCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG mutant NA NA NA NA NA 62 145 1 1 1 0.9248078 0.9689334 0.9995332 0.9996829 NA NA 0.0004668209 0.00031707 0.9468706 0.9996081 NA 0.0003919454 NA FALSE NA 0 0.118 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 1 NA TCC C,T 3.295e-05 19:54143649 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003658561 intron_variant 1.593685 0.28083 0.06856 0.256867 0.7638642 0.176795 0.9999672 TRUE 3.65744e-05 ENSE00002215495_003 ENSE00002215495 003 19 54647351 54647520 + 45 90 35 C G 54647390 3159 40 CCCACCTCTCTGGGACTCAGGCTCTGGGCTCCTACCGTCTCAATGAGCTTGCGGTTGTCTATAAGCTGCCTCTTGTCCTTGATCTCGTTGGACGCTACCCATGTCTTGATTTGGTCCCTCAGCCGCTGCACATGGGAAAAGCAAGAAAGTCAGACCTCAGGACCCAGGAA 54143614 54143784 54143653 54143654 54143654 upstr_intron -6 -0.1111111 TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATGTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG mutant NA NA NA NA NA 26 343 1 1 1 0.9248078 0.9689334 0.9995332 0.9996829 NA NA 0.0004668209 0.00031707 0.9468706 0.9996081 NA 0.0003919454 NA FALSE NA 0 0.768 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 1 NA TCT C,G 1.647e-05 19:54143654 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003658561 splice_region_variant 0.788219 0.3239 0.1199 0.256867 0.6360911 0.192121 0.9999672 TRUE 1.62536e-05 ENSE00002215495_004 ENSE00002215495 004 19 54647351 54647520 + 45 90 35 G A 54647404 3160 54 CCCACCTCTCTGGGACTCAGGCTCTGGGCTCCTACCGTCTCAATGAGCTTGCGGTTGTCTATAAGCTGCCTCTTGTCCTTGATCTCGTTGGACGCTACCCATGTCTTGATTTGGTCTCTCAGCCGCTGCAGATGGGAAAAGCAAGAAAGTCAGACCTCAGGACCCAGGAA 54143614 54143784 54143667 54143668 54143668 exon 9 0.1 TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGAGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG mutant NA NA NA NA NA 65 266 1 1 1 0.9248078 0.9689334 0.9995332 0.9996829 NA NA 0.0004668209 0.00031707 0.9468706 0.9996081 NA 0.0003919454 NA FALSE NA 1 6.712 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 1 NA GGG G,A 8.237e-06 19:54143668 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003658561 synonymous_variant 1.158782 0.98954 0.95064 0.706548 0.7599019 0 0.9999672 TRUE 4.0624e-06 ENSE00002215495_006 ENSE00002215495 006 19 54647351 54647520 + 45 90 35 A G 54647419 3162 69 CCCACCTCTCTGGGACTCAGGCTCTGGGCTCCTACCGTCTCAATGAGCTTGCGGTTGTCTATAAGCTGCCTCTTGTCCTTGATCTCGTTGGACGCTACCCACGTCTTGATTTGGTCCCTCAGCCGCTGCAGATGGGAAAAGCAAGAAAGTCAGACCTCAGGACCCAGGAA 54143614 54143784 54143682 54143683 54143683 exon 24 0.2666667 TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACGTGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG mutant NA NA NA NA NA 433 186 0.9932063 0.9991488 0.9961775 0.9248078 0.9689334 0.9995332 0.9996829 NA NA -0.006326928 -0.0005341649 0.9468706 0.9996081 NA -0.003430546 NA FALSE NA 1 1.491 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 1 NA CAT A,G 8.237e-06 19:54143683 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003658561 synonymous_variant 0.359757 0.98573 0.95733 0.706548 0.6003096 0 0.9999672 TRUE 4.06174e-06 ENSE00002215495_008 ENSE00002215495 008 19 54647351 54647520 + 45 90 35 C T 54647434 3164 84 CCCACCTCTCTGGGACTCAGGCTCTGGGCTCCTACCGTCTCAATGAGCTTGCGGTTGTCTATAAGCTGCCTCTTGTCCTTGATCTCATTGGACGCTACCCATGTCTTGATTTGGTCCCTCAGCCGCTGCAGATGGGAAAAGCAAGAAAGTCAGACCTCAGGACCCAGGAA 54143614 54143784 54143697 54143698 54143698 exon 39 0.4333333 TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAATGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG mutant NA NA NA NA NA 587 147 0.8647162 0.9587845 0.9117504 0.9248078 0.9689334 0.9995332 0.9996829 NA NA -0.1348169 -0.04089845 0.9468706 0.9996081 NA -0.0878577 NA FALSE NA 0.186 -0.405 rs148048226 upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 1 NA ACG C,T 0.0002636 19:54143698 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003658561 synonymous_variant 1.892426 0.96663 0.49044 0.706548 0.7373146 0 0.9999672 TRUE 0.000292429 ENSE00002215495_010 ENSE00002215495 010 19 54647351 54647520 + 45 90 35 A G 54647459 3166 109 CCCACCTCTCTGGGACTCAGGCTCTGGGCTCCTACCGTCTCAATGAGCTTGCGGTTGTCTACAAGCTGCCTCTTGTCCTTGATCTCGTTGGACGCTACCCATGTCTTGATTTGGTCCCTCAGCCGCTGCAGATGGGAAAAGCAAGAAAGTCAGACCTCAGGACCCAGGAA 54143614 54143784 54143722 54143723 54143723 exon -27 0.7111111 TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTGTAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG TTCCTGGGTCCTGAGGTCTGACTTTCTTGCTTTTCCCATCTGCAGCGGCTGAGGGACCAAATCAAGACATGGGTAGCGTCCAACGAGATCAAGGACAAGAGGCAGCTTATAGACAACCGCAAGCTCATTGAGACGGTAGGAGCCCAGAGCCTGAGTCCCAGAGAGGTGGG mutant NA NA NA NA NA 156 20 1 1 1 0.9248078 0.9689334 0.9995332 0.9996829 NA NA 0.0004668209 0.00031707 0.9468706 0.9996081 NA 0.0003919454 NA FALSE NA 0.994 2.101 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 1 NA TAT A,G 8.237e-06 19:54143723 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003658561 missense_variant 0.92878 0.98217 0.88741 0.706548 0.9073835 0 0.9999672 TRUE 4.0618e-06 ENSE00002217270_000 ENSE00002217270 000 19 45185776 45185945 + 63 54 53 NA NA NA NA NA GGCTCCTGGATCCGTGGGATCCCCACCACCCCTCCCAGCTCCCAGCTCCATACCTGGTACTGGTGGTTCTCTGGCTCCGCCTGCAGGTGTGGGGGTGTGGGCAGGGGCTGCAAGGGAAGGACACGGGTGAGTGGGCGCTCGGCACCCCCCACCCTCTAAACTTTGACCTT 44682503 44682673 NA NA NA NA NA NA AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC natural 21 43 0.9986612 0.9967657 0.9977134 983 1923 0.9855866 0.8918516 0.9387191 0.9986612 0.9967657 0.9855866 0.8918516 0 0 0 0 0.9977134 0.9387191 0 0 0 FALSE FALSE NA NA NA NA NA CEACAM19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEACAM19 NA NA NA ENSG00000186567 ENSE00003657264 NA NA NA NA NA NA NA 5.776509e-07 FALSE NA ENSE00002217270_BRK ENSE00002217270 BRK 19 45185776 45185945 + 63 54 53 A,G; T,T NA NA NA GGCTCCTGGATCCGTGGGATCCCCACCACCCCTCCCAGCTCCCAGCTCCATGGCTGGTACTGGTGGTTCTCTGGCTCCGCCTGCAGGTGTGGGGGTGTGGGCAGGGGAAGCAAGGGAAGGACACGGGTGAGTGGGCGCTCGGCACCCCCCACCCTCTAAACTTTGACCTT 44682503 44682673 NA NA NA NA NA NA AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCTTCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGCCATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC control NA NA NA NA NA 52 140 0 0 0 0.9986612 0.9967657 0.9855866 0.8918516 NA NA -0.9855866 -0.8918516 0.9977134 0.9387191 NA -0.9387191 NA TRUE NA NA NA NA NA NA CEACAM19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEACAM19 NA NA NA ENSG00000186567 ENSE00003657264 NA NA NA NA NA NA NA 5.776509e-07 FALSE NA ENSE00002218022_000 ENSE00002218022 000 3 52491811 52491980 + 48 84 38 NA NA NA NA NA TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 NA NA NA NA NA NA TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG natural 22 23 0.9955071 0.9982367 0.9968719 1427 1737 0.9504697 0.9882456 0.9693576 0.9955071 0.9982367 0.9504697 0.9882456 0 0 0 0 0.9968719 0.9693576 0 0 0 FALSE FALSE NA NA NA NA NA NISCH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NISCH NA NA NA ENSG00000010322 ENSE00002218022 NA NA NA NA NA NA NA 0.8171014 FALSE NA ENSE00002218022_003 ENSE00002218022 003 3 52491811 52491980 + 48 84 38 C T 52491824 1609 14 TTGTTGCTGGGCTTCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457807 52457808 52457808 upstr_intron -35 -0.7083333 TTGTTGCTGGGCTTCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 47 654 1 1 1 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04953033 0.01175439 0.9968719 0.9693576 NA 0.03064236 NA FALSE NA 0.001 0.302 . intron_variant MODIFIER NISCH HGNC 18006 ENST00000488380 1/12 rs369060089 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 3:52457808 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 intron_variant 0.53236 0.1404 0.04799 0 0.5681252 0.120846 0.8171014 FALSE 8.14956e-06 ENSE00002218022_006 ENSE00002218022 006 3 52491811 52491980 + 48 84 38 A G 52491834 1612 24 TTGTTGCTGGGCTCCCTTGCCACGAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457817 52457818 52457818 upstr_intron -25 -0.5 TTGTTGCTGGGCTCCCTTGCCACGAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 279 110 0.9338566 0.7592443 0.8465505 0.9955071 0.9982367 0.9504697 0.9882456 NA NA -0.01661303 -0.2290013 0.9968719 0.9693576 NA -0.1228072 NA FALSE NA 0 0.552 . intron_variant MODIFIER NISCH HGNC 18006 ENST00000488380 1/12 1 NA CAA A,G 2.471e-05 3:52457818 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 intron_variant 0.253768 0.17391 0.10281 0 0.7260805 0.155136 0.8171014 FALSE 1.21936e-05 ENSE00002218022_007 ENSE00002218022 007 3 52491811 52491980 + 48 84 38 G A 52491836 1613 26 TTGTTGCTGGGCTCCCTTGCCACAAAGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457819 52457820 52457820 upstr_intron -23 -0.4583333 TTGTTGCTGGGCTCCCTTGCCACAAAGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 108 293 0.9257592 1 0.9628796 0.9955071 0.9982367 0.9504697 0.9882456 NA NA -0.02471049 0.01175439 0.9968719 0.9693576 NA -0.006478053 NA FALSE NA 0.003 0.334 rs12629472 intron_variant MODIFIER NISCH HGNC 18006 ENST00000488380 1/12 rs12629472 1 A:0.1639 A:0.0174 A:0.1196 NA A:0.2956 A:0.2018 A:0.2188 A:0.0465 A:0.1928 AGG G,A 0.192 3:52457820 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 intron_variant 0.411095 0.15216 0.0266 0 0.5403754 0.167645 0.8171014 FALSE 0.191458 ENSE00002218022_009 ENSE00002218022 009 3 52491811 52491980 + 48 84 38 G T 52491841 1615 31 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTTTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457824 52457825 52457825 upstr_intron -18 -0.3541667 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTTTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 128 193 1 1 1 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04953033 0.01175439 0.9968719 0.9693576 NA 0.03064236 NA FALSE NA 0 -0.513 . intron_variant MODIFIER NISCH HGNC 18006 ENST00000488380 1/12 rs553949996 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TGT G,T 8.236e-06 3:52457825 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 intron_variant -0.962593 0.12427 0.02498 0 0.3862304 0.155136 0.8171014 FALSE 4.06194e-06 ENSE00002218022_010 ENSE00002218022 010 3 52491811 52491980 + 48 84 38 C T 52491850 1616 40 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCTCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457833 52457834 52457834 upstr_intron -9 -0.1666667 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCTCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 31 847 1 0.9981363 0.9990681 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04953033 0.009890661 0.9968719 0.9693576 NA 0.0297105 NA FALSE NA 0 0.541 . intron_variant MODIFIER NISCH HGNC 18006 ENST00000488380 1/12 rs369512589 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 CCC C,T 5.765e-05 3:52457834 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 intron_variant 1.438037 0.20936 0.05501 0 0.7486749 0.315524 0.8171014 FALSE 3.65553e-05 ENSE00002218022_011 ENSE00002218022 011 3 52491811 52491980 + 48 84 38 G A 52491859 1617 49 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGATTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457842 52457843 52457843 exon 1 0.01190476 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGATTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 1273 2155 0.8 0.7271146 0.7635573 0.9955071 0.9982367 0.9504697 0.9882456 NA NA -0.1504697 -0.261131 0.9968719 0.9693576 NA -0.2058003 NA FALSE NA 1 8.593 . missense_variant&splice_region_variant MODERATE NISCH HGNC 18006 ENST00000488380 2/13 1 deleterious(0.04) possibly_damaging(0.696) NA GGT G,A 1.647e-05 3:52457843 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 missense_variant 6.251669 0.99463 0.99409 0.722319 0.9985827 0 0.8171014 FALSE 1.21826e-05 ENSE00002218022_012 ENSE00002218022 012 3 52491811 52491980 + 48 84 38 C T 52491864 1618 54 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTATATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457847 52457848 52457848 exon 6 0.07142857 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTATATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 62 813 0.9557591 0.9503227 0.9530409 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.005289413 -0.03792291 0.9968719 0.9693576 NA -0.01631675 NA FALSE NA 0.976 -0.047 . synonymous_variant LOW NISCH HGNC 18006 ENST00000488380 2/13 1 NA ACA C,T 8.236e-05 3:52457848 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 synonymous_variant 1.185831 0.94872 0.60402 0.722319 0.7672633 0 0.8171014 FALSE 4.06065e-05 ENSE00002218022_013 ENSE00002218022 013 3 52491811 52491980 + 48 84 38 A G 52491865 1619 55 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACGTCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457848 52457849 52457849 exon 7 0.08333333 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACGTCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 1627 342 0.9981388 1 0.9990694 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.0476691 0.01175439 0.9968719 0.9693576 NA 0.02971174 NA FALSE NA 1 2.859 . missense_variant MODERATE NISCH HGNC 18006 ENST00000488380 2/13 1 tolerated(0.78) benign(0.003) NA CAT A,G 8.236e-06 3:52457849 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 missense_variant 1.297363 0.96887 0.94052 0.722319 0.8831738 0 0.8171014 FALSE 4.06065e-06 ENSE00002218022_014 ENSE00002218022 014 3 52491811 52491980 + 48 84 38 C T 52491870 1620 60 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATTCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457853 52457854 52457854 exon 12 0.1428571 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATTCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 153 268 0.8703148 0.8102982 0.8403065 0.9955071 0.9982367 0.9504697 0.9882456 NA NA -0.08015489 -0.1779474 0.9968719 0.9693576 NA -0.1290511 NA FALSE NA 0.901 -0.05 . synonymous_variant LOW NISCH HGNC 18006 ENST00000488380 2/13 1 NA TCC C,T 1.647e-05 3:52457854 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 synonymous_variant 1.832137 0.93855 0.6287 0.722319 0.8243712 0 0.8171014 FALSE 1.62427e-05 ENSE00002218022_015 ENSE00002218022 015 3 52491811 52491980 + 48 84 38 C T 52491876 1621 66 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTTACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457859 52457860 52457860 exon 18 0.2142857 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTTACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 94 359 1 1 1 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04953033 0.01175439 0.9968719 0.9693576 NA 0.03064236 NA FALSE NA 1 0.965 . synonymous_variant LOW NISCH HGNC 18006 ENST00000488380 2/13 1 NA TCA C,T 8.236e-06 3:52457860 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 synonymous_variant 1.834952 0.9647 0.79328 0.722319 0.7971439 0 0.8171014 FALSE 4.06072e-06 ENSE00002218022_016 ENSE00002218022 016 3 52491811 52491980 + 48 84 38 T C 52491882 1622 72 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGACGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457865 52457866 52457866 exon 24 0.2857143 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGACGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 271 18 0.9820032 1 0.9910016 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.03153356 0.01175439 0.9968719 0.9693576 NA 0.02164397 NA FALSE NA 1 1.664 . synonymous_variant LOW NISCH HGNC 18006 ENST00000488380 2/13 1 NA ATG T,C 8.236e-06 3:52457866 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 synonymous_variant 0.625775 0.97715 0.90955 0.722319 0.8283166 0 0.8171014 FALSE 4.06075e-06 ENSE00002218022_018 ENSE00002218022 018 3 52491811 52491980 + 48 84 38 T C 52491891 1624 81 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCACGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457874 52457875 52457875 exon 33 0.3928571 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCACGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 328 906 0.9959969 0.9862833 0.9911401 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04552721 -0.001962305 0.9968719 0.9693576 NA 0.02178245 NA FALSE NA 0.98 0.111 . synonymous_variant LOW NISCH HGNC 18006 ENST00000488380 2/13 1 NA ATG T,C 2.471e-05 3:52457875 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 synonymous_variant 0.209591 0.96193 0.78213 0.722319 0.742072 0 0.8171014 FALSE 2.03029e-05 ENSE00002218022_020 ENSE00002218022 020 3 52491811 52491980 + 48 84 38 C G 52491899 1626 89 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGAGAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457882 52457883 52457883 exon 41 0.4880952 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGAGAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 557 1475 1 0.9992487 0.9996244 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04953033 0.01100309 0.9968719 0.9693576 NA 0.03026671 NA FALSE NA 0.998 2.474 . missense_variant MODERATE NISCH HGNC 18006 ENST00000488380 2/13 1 deleterious(0.03) benign(0.222) NA ACA C,G 8.236e-06 3:52457883 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 missense_variant 4.404047 0.97466 0.94034 0.722319 0.9893856 0 0.8171014 FALSE 1.6243e-05 ENSE00002218022_023 ENSE00002218022 023 3 52491811 52491980 + 48 84 38 G A 52491911 1629 101 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCACTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457894 52457895 52457895 exon -32 0.6309524 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCACTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 404 62 0.9321721 0.8980647 0.9151184 0.9955071 0.9982367 0.9504697 0.9882456 NA NA -0.01829759 -0.09018095 0.9968719 0.9693576 NA -0.05423927 NA FALSE NA 1 8.593 . missense_variant MODERATE NISCH HGNC 18006 ENST00000488380 2/13 1 deleterious(0) probably_damaging(0.994) NA CGC G,A 8.236e-06 3:52457895 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 missense_variant 7.557575 0.99225 0.99104 0.722319 0.9994074 0 0.8171014 FALSE 4.06065e-06 ENSE00002218022_026 ENSE00002218022 026 3 52491811 52491980 + 48 84 38 A T 52491938 1632 128 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGTAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 52457921 52457922 52457922 exon -5 0.952381 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGTAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 41 755 0.9906013 0.9555529 0.9730771 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04013165 -0.03269268 0.9968719 0.9693576 NA 0.003719488 NA FALSE NA 1 8.124 rs147471525 missense_variant MODERATE NISCH HGNC 18006 ENST00000488380 2/13 1 deleterious(0.01) possibly_damaging(0.463) NA GAA A,T 8.236e-06 3:52457922 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 missense_variant 6.468264 0.99005 0.99022 0.722319 0.9915909 0 0.8171014 FALSE NA ENSE00002218022_028 ENSE00002218022 028 3 52491811 52491980 + 48 84 38 G T 52491963 1634 153 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGATCACGTATCTCAGGGCTG 52457794 52457964 52457946 52457947 52457947 downstr_intron 21 1.567568 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGATCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 116 45 1 1 1 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04953033 0.01175439 0.9968719 0.9693576 NA 0.03064236 NA FALSE NA 0 -0.993 . intron_variant MODIFIER NISCH HGNC 18006 ENST00000488380 2/12 1 NA AGC G,T 8.236e-06 3:52457947 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 intron_variant -0.01693 0.15679 0.05831 0.080442 0.5313808 0.115138 0.8171014 FALSE 4.06273e-06 ENSE00002218022_029 ENSE00002218022 029 3 52491811 52491980 + 48 84 38 C T 52491966 1635 156 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCATGTATCTCAGGGCTG 52457794 52457964 52457949 52457950 52457950 downstr_intron 24 1.648649 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCATGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 144 294 1 0.9863081 0.9931541 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.04953033 -0.001937493 0.9968719 0.9693576 NA 0.02379642 NA FALSE NA 0.685 -0.204 . intron_variant MODIFIER NISCH HGNC 18006 ENST00000488380 2/12 1 NA ACG C,T 2.471e-05 3:52457950 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 intron_variant 0.193025 0.09226 0.00528 0.080442 0.6187465 0.115138 0.8171014 FALSE 1.62491e-05 ENSE00002218022_030 ENSE00002218022 030 3 52491811 52491980 + 48 84 38 G A 52491967 1636 157 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACATATCTCAGGGCTG 52457794 52457964 52457950 52457951 52457951 downstr_intron 25 1.675676 TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACATATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG mutant NA NA NA NA NA 14 44 0.9542736 1 0.9771368 0.9955071 0.9982367 0.9504697 0.9882456 NA NA 0.003803892 0.01175439 0.9968719 0.9693576 NA 0.007779139 NA FALSE NA 0.702 0.866 . intron_variant MODIFIER NISCH HGNC 18006 ENST00000488380 2/12 1 NA CGT G,A 3.295e-05 3:52457951 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00002218022 intron_variant -0.062416 0.14178 0.08842 0.080442 0.7223538 0.116424 0.8171014 FALSE 1.62508e-05 ENSE00002218022_BRK ENSE00002218022 BRK 3 52491811 52491980 + 48 84 38 A,G; T,T NA NA NA TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTTTGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGCCAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG 52457794 52457964 NA NA NA NA NA NA TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTTTGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGCCAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG TTGTTGCTGGGCTCCCTTGCCACAAGGGCTGTTGGTTTCCCCTTTTAGGTTTACATCATCCAGGTCACTGATGGCAGCCATGAGTGGACAGTAAAGCACCGCTACAGCGACTTCCATGACCTGCATGAAAAGGTAACTGTTAAGAGCTGGGAGCACGTATCTCAGGGCTG control NA NA NA NA NA 33 270 0 0 0 0.9955071 0.9982367 0.9504697 0.9882456 NA NA -0.9504697 -0.9882456 0.9968719 0.9693576 NA -0.9693576 NA TRUE NA NA NA NA NA NA NISCH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NISCH NA NA NA ENSG00000010322 ENSE00002218022 NA NA NA NA NA NA NA 0.8171014 FALSE NA ENSE00002219544_000 ENSE00002219544 000 19 39735016 39735185 - 41 78 51 NA NA NA NA NA GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT 39244375 39244545 NA NA NA NA NA NA GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT natural NA NA NA NA NA 1068 775 0.949332 0.9663885 0.9578603 NA NA 0.949332 0.9663885 NA NA 0 0 NA 0.9578603 NA 0 NA FALSE NA NA NA NA NA NA IFNL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFNL3 NA NA NA ENSG00000197110 ENSE00002523980 NA NA NA NA NA NA NA 1.159368e-05 FALSE NA ENSE00002219544_003 ENSE00002219544 003 19 39735016 39735185 - 41 78 51 C G 39735046 2289 140 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGCAGTCAGGCCCACCCCTGCCCTCCCAGCCCT 39244375 39244545 39244405 39244406 39244406 downstr_intron 11 1.275 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGCAGTCAGGCCCACCCCTGCCCTCCCAGCCCT GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT mutant NA NA NA NA NA 27 93 1 1 1 NA NA 0.949332 0.9663885 NA NA 0.05066795 0.0336115 NA 0.9578603 NA 0.04213972 NA FALSE NA 0 -1.632 rs141228207 intron_variant MODIFIER IFNL3 HGNC 18365 ENST00000413851 2/4 rs141228207 1 G:0.0022 G:0 G:0 NA G:0 G:0.0089 G:0.002 G:0.0007 G:0.0051 TCC C,G 0.00557 19:39244406 IFNL3 HGNC Symbol protein_coding 1576 ENSG00000197110 ENSE00002523980 intron_variant 1.37151 0.1202 0.01408 0.056701 0.7593482 0.0554014 1.159368e-05 FALSE 0.00546235 ENSE00002219544_004 ENSE00002219544 004 19 39735016 39735185 - 41 78 51 C T 39735048 2290 138 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGAGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT 39244375 39244545 39244407 39244408 39244408 downstr_intron 9 1.225 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGAGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT mutant NA NA NA NA NA 253 32 0.8723617 0.945136 0.9087488 NA NA 0.949332 0.9663885 NA NA -0.07697035 -0.02125253 NA 0.9578603 NA -0.04911144 NA FALSE NA 0 0.153 . intron_variant MODIFIER IFNL3 HGNC 18365 ENST00000413851 2/4 1 NA CCC C,T 8.239e-06 19:39244408 IFNL3 HGNC Symbol protein_coding 1576 ENSG00000197110 ENSE00002523980 intron_variant 1.553142 0.09346 0.03649 0.056701 0.8457499 0.0636507 1.159368e-05 FALSE NA ENSE00002219544_007 ENSE00002219544 007 19 39735016 39735185 - 41 78 51 G A 39735072 2293 114 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGATCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT 39244375 39244545 39244431 39244432 39244432 exon -16 0.8076923 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGATCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT mutant NA NA NA NA NA 946 209 0.9981142 0.8394471 0.9187807 NA NA 0.949332 0.9663885 NA NA 0.04878218 -0.1269414 NA 0.9578603 NA -0.03907959 NA FALSE NA 0.748 2.866 . synonymous_variant LOW IFNL3 HGNC 18365 ENST00000413851 2/5 1 NA GGT G,A 8.24e-06 19:39244432 IFNL3 HGNC Symbol protein_coding 1576 ENSG00000197110 ENSE00002523980 synonymous_variant 0.671828 0.90864 0.79618 0.497415 0.6430551 0 1.159368e-05 FALSE NA ENSE00002219544_026 ENSE00002219544 026 19 39735016 39735185 - 41 78 51 G C 39735171 2312 15 GTCTAACCTCCACCGCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT 39244375 39244545 39244530 39244531 39244531 upstr_intron -37 -0.7058824 GTCTAACCTCCACCGCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT mutant NA NA NA NA NA 346 16 0.9978392 1 0.9989196 NA NA 0.949332 0.9663885 NA NA 0.04850714 0.0336115 NA 0.9578603 NA 0.04105932 NA FALSE NA 0.024 0.236 . intron_variant MODIFIER IFNL3 HGNC 18365 ENST00000413851 1/4 rs200763837 1 C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 GGG G,C 9.066e-05 19:39244531 IFNL3 HGNC Symbol protein_coding 1576 ENSG00000197110 ENSE00002523980 intron_variant 0.304904 0.34032 0.03698 0.056701 0.7208779 0.512256 1.159368e-05 FALSE 8.20494e-05 ENSE00002219544_BRK ENSE00002219544 BRK 19 39735016 39735185 - 41 78 51 A,G; T,T NA NA NA GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTTTGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGCCGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT 39244375 39244545 NA NA NA NA NA NA GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTTTGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGCCGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAAGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCCCTCCCAGCCCT control 43 20 0 0 0 NA NA NA NA NA NA NA 0.949332 0.9663885 NA NA NA NA NA 0.9578603 NA NA NA NA NA NA NA NA NA NA IFNL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFNL3 NA NA NA ENSG00000197110 ENSE00002523980 NA NA NA NA NA NA NA 1.159368e-05 FALSE NA ENSE00002222757_000 ENSE00002222757 000 19 36001041 36001210 - 45 69 56 NA NA NA NA NA CTTTTCCTTCCCGCGGTTGGTGGGAGATTCACGCCAGCCACTCACCCCGGGTTTATGTCCATTTCCTCCGCCGCTCCCACCGTGGTTGCCGGAGGAGGAGCCGGTGCTGGATCCCTGCAGGGGAAAGCAAGATTTCAAACGCTGTCCTAAAGGACCTAAAGGGGACCCAG 35510138 35510308 NA NA NA NA NA NA CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG natural NA NA NA NA NA 349 785 1 0.9738903 0.9869451 NA NA 1 0.9738903 NA NA 0 0 NA 0.9869451 NA 0 NA FALSE NA NA NA NA NA NA DMKN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DMKN NA NA NA ENSG00000161249 ENSE00003625285 NA NA NA NA NA NA NA 3.472584e-09 FALSE NA ENSE00002222757_004 ENSE00002222757 004 19 36001041 36001210 - 45 69 56 G A 36001063 2152 148 CTTTTCCTTCCCGCGGTTGGTGAGAGATTCACGCCAGCCACTCACCCCGGGTTTATGTCCATTTCCTCCGCCGCTCCCACCGTGGTTGCCGGAGGAGGAGCCGGTGCTGGATCCCTGCAGGGGAAAGCAAGATTTCAAACGCTGTCCTAAAGGACCTAAAGGGGACCCAG 35510138 35510308 35510160 35510161 35510161 downstr_intron 23 1.522727 CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCTCACCAACCGCGGGAAGGAAAAG CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG mutant NA NA NA NA NA 21 1151 1 0.9930927 0.9965463 NA NA 1 0.9738903 NA NA 0 0.01920242 NA 0.9869451 NA 0.009601209 NA FALSE NA 0.001 0.572 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 2/5 1 NA GGG G,A 1.648e-05 19:35510161 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003625285 non_coding_transcript_exon_variant 0.806296 0.3761 0.06626 0.095506 0.7985753 0.0753546 3.472584e-09 FALSE 8.88249e-06 ENSE00002222757_010 ENSE00002222757 010 19 36001041 36001210 - 45 69 56 G A 36001090 2158 121 CTTTTCCTTCCCGCGGTTGGTGGGAGATTCACGCCAGCCACTCACCCCGAGTTTATGTCCATTTCCTCCGCCGCTCCCACCGTGGTTGCCGGAGGAGGAGCCGGTGCTGGATCCCTGCAGGGGAAAGCAAGATTTCAAACGCTGTCCTAAAGGACCTAAAGGGGACCCAG 35510138 35510308 35510187 35510188 35510188 exon -5 0.942029 CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACTCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG mutant NA NA NA NA NA 23 115 0.9784985 1 0.9892493 NA NA 1 0.9738903 NA NA -0.02150147 0.02610974 NA 0.9869451 NA 0.002304138 NA FALSE NA 0.925 3.705 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 2/6 1 NA GGG G,A 8.238e-06 19:35510188 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003625285 missense_variant 3.469462 0.85254 0.50902 0.59774 0.9981124 0 3.472584e-09 FALSE NA ENSE00002222757_014 ENSE00002222757 014 19 36001041 36001210 - 45 69 56 G A 36001110 2162 101 CTTTTCCTTCCCGCGGTTGGTGGGAGATTCACGCCAGCCACTCACCCCGGGTTTATGTCCATTTCCTCCACCGCTCCCACCGTGGTTGCCGGAGGAGGAGCCGGTGCTGGATCCCTGCAGGGGAAAGCAAGATTTCAAACGCTGTCCTAAAGGACCTAAAGGGGACCCAG 35510138 35510308 35510207 35510208 35510208 exon -25 0.6521739 CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGTGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG mutant NA NA NA NA NA 80 93 1 1 1 NA NA 1 0.9738903 NA NA 0 0.02610974 NA 0.9869451 NA 0.01305487 NA FALSE NA 0 -2.895 NA NA NA DMKN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:35510208 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003625285 missense_variant 1.067939 0.32551 0.00788 0.59774 0.9064291 0 3.472584e-09 FALSE 4.25333e-06 ENSE00002222757_022 ENSE00002222757 022 19 36001041 36001210 - 45 69 56 T C 36001185 2170 26 CTTTTCCTTCCCGCGGTTGGTGGGAGATTCACGCCAGCCACTCACCCCGGGTTTATGTCCATTTCCTCCGCCGCTCCCACCGTGGTTGCCGGAGGAGGAGCCGGTGCTGGATCCCTGCAGGGGAAAGCAAGATTTCAAACGCTGCCCTAAAGGACCTAAAGGGGACCCAG 35510138 35510308 35510282 35510283 35510283 upstr_intron -31 -0.5357143 CTGGGTCCCCTTTAGGTCCTTTAGGGCAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG CTGGGTCCCCTTTAGGTCCTTTAGGACAGCGTTTGAAATCTTGCTTTCCCCTGCAGGGATCCAGCACCGGCTCCTCCTCCGGCAACCACGGTGGGAGCGGCGGAGGAAATGGACATAAACCCGGGGTGAGTGGCTGGCGTGAATCTCCCACCAACCGCGGGAAGGAAAAG mutant NA NA NA NA NA 95 122 1 1 1 NA NA 1 0.9738903 NA NA 0 0.02610974 NA 0.9869451 NA 0.01305487 NA FALSE NA 0 -0.764 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 1/5 1 NA GTC T,C 8.312e-06 19:35510283 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003625285 5_prime_UTR_variant 0.109188 0.22753 0.05423 0.095506 0.3664118 0.0760325 3.472584e-09 FALSE NA ENSE00002225920_000 ENSE00002225920 000 16 87788770 87788939 - 30 99 41 NA NA NA NA NA CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 NA NA NA NA NA NA CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT natural NA NA NA NA NA 1107 1474 0.9496268 0.914111 0.9318689 NA NA 0.9496268 0.914111 NA NA 0 0 NA 0.9318689 NA 0 NA FALSE NA NA NA NA NA NA KLHDC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KLHDC4 NA NA NA ENSG00000104731 ENSE00003669649 NA NA NA NA NA NA NA 3.705283e-19 FALSE NA ENSE00002225920_002 ENSE00002225920 002 16 87788770 87788939 - 30 99 41 A G 87788786 3113 154 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACCGACTCTCAGCCACCCT 87755163 87755333 87755179 87755180 87755180 downstr_intron 14 1.482759 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACCGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 2639 17 0.9978542 0.9881459 0.993 NA NA 0.9496268 0.914111 NA NA 0.04822737 0.07403484 NA 0.9318689 NA 0.06113111 NA FALSE NA 0 0.052 . intron_variant MODIFIER KLHDC4 HGNC 25272 ENST00000353170 2/9 1 NA CAG A,G 1.647e-05 16:87755180 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 intron_variant -0.14287 0.18474 0.09224 0.256867 0.4343162 0.0978179 3.705283e-19 FALSE 1.63387e-05 ENSE00002225920_003 ENSE00002225920 003 16 87788770 87788939 - 30 99 41 G A 87788792 3114 148 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTTAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755185 87755186 87755186 downstr_intron 8 1.275862 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTTAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 267 117 1 0.8043528 0.9021764 NA NA 0.9496268 0.914111 NA NA 0.05037322 -0.1097582 NA 0.9318689 NA -0.02969251 NA FALSE NA 0.001 -0.023 . splice_region_variant&intron_variant LOW KLHDC4 HGNC 25272 ENST00000353170 2/9 1 NA TGA G,A 8.236e-06 16:87755186 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 splice_region_variant 0.087126 0.23584 0.08148 0.256867 0.2322019 0.0978179 3.705283e-19 FALSE 1.22098e-05 ENSE00002225920_004 ENSE00002225920 004 16 87788770 87788939 - 30 99 41 A G 87788795 3115 145 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAACGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755188 87755189 87755189 downstr_intron 5 1.172414 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAACGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 19 663 1 0.9994239 0.999712 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08531288 NA 0.9318689 NA 0.06784305 NA FALSE NA 0 -0.195 . splice_region_variant&intron_variant LOW KLHDC4 HGNC 25272 ENST00000353170 2/9 rs373380962 1 NA G:0.0002 G:0 CAT A,G 2.471e-05 16:87755189 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 splice_region_variant -0.365717 0.20531 0.04692 0.115753 0.387141 0.17611 3.705283e-19 FALSE 2.44089e-05 ENSE00002225920_005 ENSE00002225920 005 16 87788770 87788939 - 30 99 41 T C 87788796 3116 144 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAGTGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755189 87755190 87755190 downstr_intron 4 1.137931 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAGTGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 685 317 0.987823 0.9998799 0.9938514 NA NA 0.9496268 0.914111 NA NA 0.0381962 0.08576882 NA 0.9318689 NA 0.06198251 NA FALSE NA 0.057 0.362 . splice_region_variant&intron_variant LOW KLHDC4 HGNC 25272 ENST00000353170 2/9 1 NA ATT T,C 1.647e-05 16:87755190 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 splice_region_variant 0.108605 0.29077 0.09369 0.256867 0.6867685 0.178209 3.705283e-19 FALSE 2.44091e-05 ENSE00002225920_008 ENSE00002225920 008 16 87788770 87788939 - 30 99 41 C G 87788810 3119 130 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTCTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755203 87755204 87755204 exon -11 0.8989899 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTCTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 219 29 0.98861 1 0.994305 NA NA 0.9496268 0.914111 NA NA 0.03898322 0.08588897 NA 0.9318689 NA 0.06243609 NA FALSE NA 1 6.703 rs138234137 missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 rs138234137 1 tolerated(0.3) benign(0.111) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 ACA C,G 1.647e-05 16:87755204 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 3.674392 0.96863 0.96205 0.706548 0.9729556 0 3.705283e-19 FALSE 1.62525e-05 ENSE00002225920_009 ENSE00002225920 009 16 87788770 87788939 - 30 99 41 G A 87788812 3120 128 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGTTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755205 87755206 87755206 exon -13 0.8787879 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGTTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 17 25 1 1 1 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08588897 NA 0.9318689 NA 0.06813109 NA FALSE NA 1 1.043 . synonymous_variant LOW KLHDC4 HGNC 25272 ENST00000353170 2/10 1 NA AGC G,A 8.236e-06 16:87755206 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 1.200657 0.90704 0.80418 0.706548 0.9981718 0 3.705283e-19 FALSE 4.06243e-06 ENSE00002225920_010 ENSE00002225920 010 16 87788770 87788939 - 30 99 41 C T 87788813 3121 127 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCACTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755206 87755207 87755207 exon -14 0.8686869 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCACTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 350 414 0.9939685 0.9952317 0.9946001 NA NA 0.9496268 0.914111 NA NA 0.04434173 0.08112063 NA 0.9318689 NA 0.06273118 NA FALSE NA 1 6.703 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87755207 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 7.591126 0.96741 0.95356 0.706548 0.9994377 0 3.705283e-19 FALSE 2.03145e-05 ENSE00002225920_011 ENSE00002225920 011 16 87788770 87788939 - 30 99 41 C G 87788813 3122 127 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCCCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755206 87755207 87755207 exon -14 0.8686869 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCCCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 23 474 0.8069833 0.9181305 0.8625569 NA NA 0.9496268 0.914111 NA NA -0.1426434 0.004019419 NA 0.9318689 NA -0.06931201 NA FALSE NA 1 6.703 NA NA NA KLHDC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KLHDC4 NA NA NA ENSG00000104731 ENSE00003669649 missense_variant 7.371249 0.96863 0.96205 0.706548 0.9978444 0 3.705283e-19 FALSE 8.12579e-06 ENSE00002225920_012 ENSE00002225920 012 16 87788770 87788939 - 30 99 41 G A 87788814 3123 126 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGTGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755207 87755208 87755208 exon -15 0.8585859 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGTGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 88 166 1 0.981638 0.990819 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.06752692 NA 0.9318689 NA 0.05895007 NA FALSE NA 1 5.255 . missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 rs377417507 1 deleterious(0) probably_damaging(1) NA CGC G,A 8.236e-06 16:87755208 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 7.386767 0.95139 0.93361 0.706548 0.9993471 0 3.705283e-19 FALSE 4.0623e-06 ENSE00002225920_015 ENSE00002225920 015 16 87788770 87788939 - 30 99 41 G T 87788820 3126 120 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTACGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755213 87755214 87755214 exon -21 0.7979798 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTACGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 96 897 1 1 1 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08588897 NA 0.9318689 NA 0.06813109 NA FALSE NA 1 6.666 . missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 COSM3513153 1 tolerated(0.11) possibly_damaging(0.624) NA GGA G,T 8.236e-06 16:87755214 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 3.999735 0.96889 0.95877 0.706548 0.9967798 0 3.705283e-19 FALSE 8.12308e-06 ENSE00002225920_018 ENSE00002225920 018 16 87788770 87788939 - 30 99 41 G A 87788825 3129 115 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCTACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755218 87755219 87755219 exon -26 0.7474747 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCTACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 310 21 1 1 1 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08588897 NA 0.9318689 NA 0.06813109 NA FALSE NA 1 8.467 NA NA NA KLHDC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87755219 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 3.248138 0.96789 0.96746 0.706548 0.9982534 0 3.705283e-19 FALSE 2.43669e-05 ENSE00002225920_020 ENSE00002225920 020 16 87788770 87788939 - 30 99 41 G C 87788831 3131 109 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCGCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755224 87755225 87755225 exon -32 0.6868687 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCGCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 1497 106 0.9633997 0.9633419 0.9633708 NA NA 0.9496268 0.914111 NA NA 0.01377296 0.04923087 NA 0.9318689 NA 0.03150191 NA FALSE NA 1 8.467 rs145755669 missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 rs145755669 1 deleterious(0) probably_damaging(0.996) NA C:0.0002 C:0 GGG G,C 8.236e-06 16:87755225 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 5.443659 0.96912 0.9723 0.706548 0.9984703 0 3.705283e-19 FALSE 8.12229e-06 ENSE00002225920_022 ENSE00002225920 022 16 87788770 87788939 - 30 99 41 G T 87788833 3133 107 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATACCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755226 87755227 87755227 exon -34 0.6666667 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATACCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 337 851 0.9961518 0.9986925 0.9974221 NA NA 0.9496268 0.914111 NA NA 0.04652498 0.08458145 NA 0.9318689 NA 0.06555321 NA FALSE NA 1 1.629 rs17772510 synonymous_variant LOW KLHDC4 HGNC 25272 ENST00000353170 2/10 rs17772510&COSM3755176 1 T:0.0240 T:0.0053 T:0.0331 NA T:0 T:0.0646 T:0.0256 T:0.0152 T:0.0672 GGA G,T 0.046 16:87755227 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 1.10283 0.95417 0.89801 0.706548 0.9945486 0 3.705283e-19 FALSE 0.04641 ENSE00002225920_023 ENSE00002225920 023 16 87788770 87788939 - 30 99 41 G A 87788836 3134 104 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGATATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755229 87755230 87755230 exon -37 0.6363636 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGATATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 15 115 1 0.9986223 0.9993111 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08451123 NA 0.9318689 NA 0.06744223 NA FALSE NA 0.119 -1.164 rs17699859 synonymous_variant LOW KLHDC4 HGNC 25272 ENST00000353170 2/10 rs17699859 1 A:0.0711 A:0.084 A:0.0634 NA A:0.0198 A:0.1143 A:0.0675 A:0.1024 A:0.1012 TGT G,A 0.093 16:87755230 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 0.792927 0.8878 0.33469 0.706548 0.9976563 0 3.705283e-19 FALSE 0.0903034 ENSE00002225920_024 ENSE00002225920 024 16 87788770 87788939 - 30 99 41 T C 87788837 3135 103 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGGCATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755230 87755231 87755231 exon -38 0.6262626 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGGCATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 1798 62 1 0.9685805 0.9842903 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.05446951 NA 0.9318689 NA 0.05242137 NA FALSE NA 1 6.89 rs146556886 missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 rs146556886 1 deleterious(0.04) benign(0.236) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0.0007 C:0 GTC T,C 6.589e-05 16:87755231 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 2.740484 0.96071 0.95086 0.706548 0.9960647 0 3.705283e-19 FALSE 4.46722e-05 ENSE00002225920_027 ENSE00002225920 027 16 87788770 87788939 - 30 99 41 T C 87788847 3138 93 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGGCCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755240 87755241 87755241 exon -48 0.5252525 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGGCCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 493 695 0.9863628 0.9903624 0.9883626 NA NA 0.9496268 0.914111 NA NA 0.03673607 0.0762514 NA 0.9318689 NA 0.05649374 NA FALSE NA 1 0.926 rs141234208 missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 rs141234208 1 tolerated(0.18) benign(0.011) NA C:0 C:0.0001 GTC T,C 8.236e-06 16:87755241 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant -0.396969 0.90175 0.72738 0.706548 0.4802358 0 3.705283e-19 FALSE 8.12203e-06 ENSE00002225920_028 ENSE00002225920 028 16 87788770 87788939 - 30 99 41 G A 87788852 3139 88 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACATCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755245 87755246 87755246 exon 47 0.4747475 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACATCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 105 734 1 0.9990017 0.9995008 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08489062 NA 0.9318689 NA 0.06763192 NA FALSE NA 0.031 1.125 . missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 1 tolerated(0.07) benign(0.254) NA GGT G,A 8.236e-06 16:87755246 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 2.246428 0.84855 0.38614 0.706548 0.9917861 0 3.705283e-19 FALSE 4.06118e-06 ENSE00002225920_029 ENSE00002225920 029 16 87788770 87788939 - 30 99 41 G A 87788854 3140 86 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGATACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755247 87755248 87755248 exon 45 0.4545455 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGATACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 161 139 1 1 1 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08588897 NA 0.9318689 NA 0.06813109 NA FALSE NA 0.044 0.343 . synonymous_variant LOW KLHDC4 HGNC 25272 ENST00000353170 2/10 1 NA TGT G,A 2.471e-05 16:87755248 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant -0.146088 0.90563 0.38315 0.706548 0.9947838 0 3.705283e-19 FALSE 2.03052e-05 ENSE00002225920_032 ENSE00002225920 032 16 87788770 87788939 - 30 99 41 G A 87788864 3143 76 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATATCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755257 87755258 87755258 exon 35 0.3535354 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATATCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 67 432 1 0.9989358 0.9994679 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08482478 NA 0.9318689 NA 0.067599 NA FALSE NA 1 4.202 rs2303771 missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 rs2303771&COSM3755177 1 tolerated(1) benign(0.001) A:0.4071 A:0.3888 A:0.4481 NA A:0.3403 A:0.3539 A:0.5266 A:0.3788 A:0.3517 GGT A,A 0.392 16:87755258 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant -0.719278 0.81317 0.14748 0.706548 0.06875826 0 3.705283e-19 FALSE 0.392729 ENSE00002225920_034 ENSE00002225920 034 16 87788770 87788939 - 30 99 41 T C 87788870 3145 70 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTGCAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755263 87755264 87755264 exon 29 0.2929293 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTGCAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 135 29 1 1 1 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08588897 NA 0.9318689 NA 0.06813109 NA FALSE NA 1 5.177 . missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 1 deleterious(0.01) possibly_damaging(0.854) NA GTA T,C 8.236e-06 16:87755264 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 4.198127 0.94092 0.9149 0.706548 0.9845606 0 3.705283e-19 FALSE 8.12341e-06 ENSE00002225920_036 ENSE00002225920 036 16 87788770 87788939 - 30 99 41 T C 87788876 3147 64 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTGTGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755269 87755270 87755270 exon 23 0.2323232 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTGTGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 463 424 0.9957347 0.9913908 0.9935628 NA NA 0.9496268 0.914111 NA NA 0.04610794 0.07727979 NA 0.9318689 NA 0.06169387 NA FALSE NA 0.998 3.083 rs141713574 missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 rs141713574 1 deleterious(0) probably_damaging(0.978) NA C:0.0002 C:0.0008 ATA T,C 0.0001483 16:87755270 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 3.921795 0.89573 0.87605 0.706548 0.9950496 0 3.705283e-19 FALSE 0.000154395 ENSE00002225920_038 ENSE00002225920 038 16 87788770 87788939 - 30 99 41 G A 87788880 3149 60 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGTTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755273 87755274 87755274 exon 19 0.1919192 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGTTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 922 70 1 1 1 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08588897 NA 0.9318689 NA 0.06813109 NA FALSE NA 1 3.765 . missense_variant MODERATE KLHDC4 HGNC 25272 ENST00000353170 2/10 1 tolerated(0.11) possibly_damaging(0.828) NA AGC G,A 2.471e-05 16:87755274 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 3.702611 0.94889 0.90079 0.706548 0.9980153 0 3.705283e-19 FALSE NA ENSE00002225920_039 ENSE00002225920 039 16 87788770 87788939 - 30 99 41 G A 87788884 3150 56 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAATGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755277 87755278 87755278 exon 15 0.1515152 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAATGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 803 57 0.9979318 1 0.9989659 NA NA 0.9496268 0.914111 NA NA 0.04830502 0.08588897 NA 0.9318689 NA 0.06709699 NA FALSE NA 0.004 -0.748 . synonymous_variant LOW KLHDC4 HGNC 25272 ENST00000353170 2/10 1 NA CGT G,A 1.647e-05 16:87755278 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 missense_variant 0.21166 0.55076 0.09347 0.706548 0.7804305 0 3.705283e-19 FALSE 8.13663e-06 ENSE00002225920_042 ENSE00002225920 042 16 87788770 87788939 - 30 99 41 C T 87788902 3153 38 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTATAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755295 87755296 87755296 upstr_intron -4 -0.07317073 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTATAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 111 544 1 0.9963385 0.9981692 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08222742 NA 0.9318689 NA 0.06630032 NA FALSE NA 0.005 0.231 . splice_region_variant&intron_variant LOW KLHDC4 HGNC 25272 ENST00000353170 1/9 1 NA ACA C,T 1.647e-05 16:87755296 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 splice_region_variant 0.382737 0.29996 0.1351 0.156188 0.5328705 0.0863292 3.705283e-19 FALSE 8.15275e-06 ENSE00002225920_044 ENSE00002225920 044 16 87788770 87788939 - 30 99 41 G C 87788904 3155 36 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCGTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755297 87755298 87755298 upstr_intron -6 -0.1219512 CGTATCATTTGTGACACTGACATTCTTCTTCCTTCGTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 12 52 1 1 1 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08588897 NA 0.9318689 NA 0.06813109 NA FALSE NA 0.002 0.536 NA NA NA KLHDC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87755298 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 splice_region_variant -0.216787 0.2537 0.21055 0.156188 0.5564369 0.140564 3.705283e-19 FALSE 1.63102e-05 ENSE00002225920_045 ENSE00002225920 045 16 87788770 87788939 - 30 99 41 A G 87788914 3156 26 CGTATCATTTGTGACACTGACATTCCTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755307 87755308 87755308 upstr_intron -16 -0.3658537 CGTATCATTTGTGACACTGACATTCCTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 87 131 0.9910733 1 0.9955366 NA NA 0.9496268 0.914111 NA NA 0.04144652 0.08588897 NA 0.9318689 NA 0.06366774 NA FALSE NA 0 0.009 . intron_variant MODIFIER KLHDC4 HGNC 25272 ENST00000353170 1/9 1 NA AAG A,G 8.237e-06 16:87755308 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 non_coding_transcript_exon_variant -0.189066 0.16847 0.03571 0.156188 0.4779875 0.107428 3.705283e-19 FALSE 8.19189e-06 ENSE00002225920_047 ENSE00002225920 047 16 87788770 87788939 - 30 99 41 G C 87788915 3158 25 CGTATCATTTGTGACACTGACATTGTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755308 87755309 87755309 upstr_intron -17 -0.3902439 CGTATCATTTGTGACACTGACATTGTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 598 2241 1 0.9990948 0.9995474 NA NA 0.9496268 0.914111 NA NA 0.05037322 0.08498381 NA 0.9318689 NA 0.06767851 NA FALSE NA 0 -0.079 NA NA NA KLHDC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87755309 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 non_coding_transcript_exon_variant -0.351275 0.29754 0.19281 0.156188 0.4730664 0.107428 3.705283e-19 FALSE 2.46251e-05 ENSE00002225920_049 ENSE00002225920 049 16 87788770 87788939 - 30 99 41 T C 87788924 3160 16 CGTATCATTTGTGACGCTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 87755317 87755318 87755318 upstr_intron -26 -0.6097561 CGTATCATTTGTGACGCTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT mutant NA NA NA NA NA 789 263 0.8922566 1 0.9461283 NA NA 0.9496268 0.914111 NA NA -0.05737013 0.08588897 NA 0.9318689 NA 0.01425942 NA FALSE NA 0 -0.161 . intron_variant MODIFIER KLHDC4 HGNC 25272 ENST00000353170 1/9 1 NA GTG T,C 8.237e-06 16:87755318 KLHDC4 HGNC Symbol protein_coding 69507 ENSG00000104731 ENSE00003669649 non_coding_transcript_exon_variant 0.188259 0.21044 0.08924 0.156188 0.637779 0.0887937 3.705283e-19 FALSE 8.27486e-06 ENSE00002225920_BRK ENSE00002225920 BRK 16 87788770 87788939 - 30 99 41 A,G; T,T NA NA NA CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTTTACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGCCAATGTCAGCACTGACTCTCAGCCACCCT 87755163 87755333 NA NA NA NA NA NA CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTTTACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGCCAATGTCAGCACTGACTCTCAGCCACCCT CGTATCATTTGTGACACTGACATTCTTCTTCCTTCCTGTAGACTTTTTTGTATAACGAGCTCTATGTCTACAATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGTGCTCACCAGGTAATGTCAGCACTGACTCTCAGCCACCCT control NA NA NA NA NA 26 546 0 0 0 NA NA 0.9496268 0.914111 NA NA -0.9496268 -0.914111 NA 0.9318689 NA -0.9318689 NA TRUE NA NA NA NA NA NA KLHDC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KLHDC4 NA NA NA ENSG00000104731 ENSE00003669649 NA NA NA NA NA NA NA 3.705283e-19 FALSE NA ENSE00002226798_000 ENSE00002226798 000 19 35978558 35978727 - 56 48 66 NA NA NA NA NA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA 35487655 35487825 NA NA NA NA NA NA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA natural 16 14 0.9981526 0.9963018 0.9972272 1507 901 0.9834302 0.9950706 0.9892504 0.9981526 0.9963018 0.9834302 0.9950706 0 0 0 0 0.9972272 0.9892504 0 0 0 FALSE FALSE NA NA NA NA NA KRTDAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRTDAP NA NA NA ENSG00000188508 ENSE00003532514 NA NA NA NA NA NA NA 0.07533092 FALSE NA ENSE00002226798_010 ENSE00002226798 010 19 35978558 35978727 - 56 48 66 G A 35978623 2066 105 AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCTTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA 35487655 35487825 35487720 35487721 35487721 exon -10 0.8125 AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCTTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA mutant NA NA NA NA NA 359 225 1 0.9960124 0.9980062 0.9981526 0.9963018 0.9834302 0.9950706 NA NA 0.01656983 0.0009418079 0.9972272 0.9892504 NA 0.008755819 NA FALSE NA 0.993 0.978 . synonymous_variant LOW KRTDAP HGNC 16313 ENST00000338897 5/6 1 NA AGG G,A 8.236e-06 19:35487721 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003532514 synonymous_variant 1.256361 0.95468 0.63409 0.638212 0.5720276 0 0.07533092 FALSE 4.06141e-06 ENSE00002226798_011 ENSE00002226798 011 19 35978558 35978727 - 56 48 66 G T 35978624 2067 104 AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGACTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA 35487655 35487825 35487721 35487722 35487722 exon -11 0.7916667 AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGACTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA mutant NA NA NA NA NA 162 18 1 1 1 0.9981526 0.9963018 0.9834302 0.9950706 NA NA 0.01656983 0.00492941 0.9972272 0.9892504 NA 0.01074962 NA FALSE NA 0.966 0.905 . missense_variant MODERATE KRTDAP HGNC 16313 ENST00000338897 5/6 1 deleterious_low_confidence(0.01) probably_damaging(0.952) NA GGC G,T 8.236e-06 19:35487722 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003532514 missense_variant 6.155175 0.96782 0.69719 0.638212 0.9970126 0 0.07533092 FALSE 8.12275e-06 ENSE00002226798_012 ENSE00002226798 012 19 35978558 35978727 - 56 48 66 T C 35978627 2068 101 AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGGTGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA 35487655 35487825 35487724 35487725 35487725 exon -14 0.7291667 AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGGTGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA mutant NA NA NA NA NA 22 317 1 0.9542692 0.9771346 0.9981526 0.9963018 0.9834302 0.9950706 NA NA 0.01656983 -0.0408014 0.9972272 0.9892504 NA -0.01211578 NA FALSE NA 0.995 3.612 rs149860356 missense_variant MODERATE KRTDAP HGNC 16313 ENST00000338897 5/6 rs149860356 1 deleterious_low_confidence(0) possibly_damaging(0.898) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATC T,C 8.236e-06 19:35487725 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003532514 missense_variant 6.457937 0.98224 0.88898 0.638212 0.9985923 0 0.07533092 FALSE 4.06138e-06 ENSE00002226798_016 ENSE00002226798 016 19 35978558 35978727 - 56 48 66 G A 35978638 2072 90 AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTTCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA 35487655 35487825 35487735 35487736 35487736 exon 24 0.5 AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTTCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA mutant NA NA NA NA NA 14 47 1 1 1 0.9981526 0.9963018 0.9834302 0.9950706 NA NA 0.01656983 0.00492941 0.9972272 0.9892504 NA 0.01074962 NA FALSE NA 1 0.977 . synonymous_variant LOW KRTDAP HGNC 16313 ENST00000338897 5/6 1 NA GGA G,A 8.236e-06 19:35487736 KRTDAP HGNC Symbol protein_coding 8234 ENSG00000188508 ENSE00003532514 synonymous_variant 1.09109 0.9628 0.60731 0.638212 0.621571 0 0.07533092 FALSE 4.06157e-06 ENSE00002226798_BRK ENSE00002226798 BRK 19 35978558 35978727 - 56 48 66 A,G; T,T NA NA NA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTTTTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGCCAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA 35487655 35487825 NA NA NA NA NA NA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTTTTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGCCAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA AATGCTTACCCATCCATGCCCGGCTGACCTGCAACACATCACTCTCTTTCTCTTTCTTTCTTTTAGTCTATCAAAAGGAAACTTCCTTTCCTCAACTGGGATGCCTTTCCTAAGGTAAGAGGTGTGGGCATTAGGAGGGTATGGAGCTTGGGGGTAAGGGAAGAAGCAGA control NA NA NA NA NA 825 263 0.07574202 0 0.03787101 0.9981526 0.9963018 0.9834302 0.9950706 NA NA -0.9076882 -0.9950706 0.9972272 0.9892504 NA -0.9513794 NA TRUE NA NA NA NA NA NA KRTDAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRTDAP NA NA NA ENSG00000188508 ENSE00003532514 NA NA NA NA NA NA NA 0.07533092 FALSE NA ENSE00002230447_000 ENSE00002230447 000 19 58089366 58089535 - 59 42 69 NA NA NA NA NA CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 NA NA NA NA NA NA CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT natural 43 43 0.9927725 0.9887874 0.9907799 3680 2942 0.9569809 0.9878464 0.9724136 0.9927725 0.9887874 0.9569809 0.9878464 0 0 0 0 0.9907799 0.9724136 0 0 0 FALSE FALSE NA NA NA NA NA ZIK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF416 NA NA NA ENSG00000083817 ENSE00002486368 NA NA NA NA NA NA NA 0.0005742039 FALSE NA ENSE00002230447_001 ENSE00002230447 001 19 58089366 58089535 - 59 42 69 C T 58089382 3269 154 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAATGTTTGTCTCTGAGAT 57577997 57578167 57578013 57578014 57578014 downstr_intron 43 1.741379 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAATGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 46 396 1 0.9975606 0.9987803 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.00971424 0.9907799 0.9724136 NA 0.02636669 NA FALSE NA 0 -0.034 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA ACT C,T 1.647e-05 19:57578014 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant 0.039452 0.10604 0.00635 0.079558 0.3693302 0.0550839 0.0005742039 FALSE 8.14021e-06 ENSE00002230447_002 ENSE00002230447 002 19 58089366 58089535 - 59 42 69 C T 58089406 3270 130 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCAGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578037 57578038 57578038 downstr_intron 19 1.327586 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCAGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 1582 376 0.9921271 0.9602155 0.9761713 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.03514623 -0.02763087 0.9907799 0.9724136 NA 0.003757681 NA FALSE NA 0.021 0.646 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA CCG C,T 1.647e-05 19:57578038 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant 0.205187 0.06892 2e-04 0.07321 0.3719554 0.0559921 0.0005742039 FALSE 4.06296e-06 ENSE00002230447_003 ENSE00002230447 003 19 58089366 58089535 - 59 42 69 G A 58089407 3271 129 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTTGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578038 57578039 57578039 downstr_intron 18 1.310345 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTTGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 1072 74 0.9963175 0.9924551 0.9943863 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.03933663 0.004608741 0.9907799 0.9724136 NA 0.02197269 NA FALSE NA 0.023 2.127 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 rs200181837 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0.0005 A:0.0003 CGA G,A 0.0001894 19:57578039 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant 0.286386 0.12852 0.06117 0.07321 0.2673318 0.0559921 0.0005742039 FALSE 0.000146253 ENSE00002230447_004 ENSE00002230447 004 19 58089366 58089535 - 59 42 69 T C 58089414 3272 122 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGGGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578045 57578046 57578046 downstr_intron 11 1.189655 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGGGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 24 129 1 1 1 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.01215359 0.9907799 0.9724136 NA 0.02758637 NA FALSE NA 0 -0.429 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA CTC T,C 0.0002471 19:57578046 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant -0.326254 0.05853 0.00072 0.07321 0.3537748 0.0559921 0.0005742039 FALSE 0.000361533 ENSE00002230447_006 ENSE00002230447 006 19 58089366 58089535 - 59 42 69 C T 58089422 3274 114 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTAAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578053 57578054 57578054 downstr_intron 3 1.051724 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTAAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 135 26 1 1 1 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.01215359 0.9907799 0.9724136 NA 0.02758637 NA FALSE NA 0 -0.687 NA NA NA ZIK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:57578054 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 splice_region_variant 0.586859 0.14035 0.00865 0.07321 0.6789221 0.104147 0.0005742039 FALSE 8.12176e-06 ENSE00002230447_007 ENSE00002230447 007 19 58089366 58089535 - 59 42 69 C T 58089436 3275 100 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGAGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578067 57578068 57578068 exon -12 0.7380952 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGAGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 393 75 1 1 1 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.01215359 0.9907799 0.9724136 NA 0.02758637 NA FALSE NA 0.001 0.661 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 rs536144352 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CCC C,T 8.236e-06 19:57578068 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 missense_variant -0.047708 0.1796 0.04523 0.493124 0.5029386 0 0.0005742039 FALSE 1.2182e-05 ENSE00002230447_008 ENSE00002230447 008 19 58089366 58089535 - 59 42 69 C T 58089437 3276 99 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATAGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578068 57578069 57578069 exon -13 0.7142857 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATAGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 164 145 0.9783292 0.9623624 0.9703458 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.0213483 -0.02548404 0.9907799 0.9724136 NA -0.002067868 NA FALSE NA 0 -0.044 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA CCA C,T 8.236e-06 19:57578069 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 missense_variant -0.349112 0.13515 0.01766 0.493124 0.5207907 0 0.0005742039 FALSE 4.06068e-06 ENSE00002230447_009 ENSE00002230447 009 19 58089366 58089535 - 59 42 69 A G 58089438 3277 98 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTACGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578069 57578070 57578070 exon -14 0.6904762 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTACGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 1348 288 0.9985137 1 0.9992569 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04153287 0.01215359 0.9907799 0.9724136 NA 0.02684323 NA FALSE NA 0 -2.583 rs137973128 upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 rs137973128 1 NA G:0.0009 G:0.0002 CAT A,G 0.0001812 19:57578070 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 missense_variant -2.785111 0.06416 0.00409 0.493124 0.1382515 0 0.0005742039 FALSE 0.000243643 ENSE00002230447_010 ENSE00002230447 010 19 58089366 58089535 - 59 42 69 G A 58089442 3278 94 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAATTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578073 57578074 57578074 exon -18 0.5952381 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAATTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 52 189 1 0.9928464 0.9964232 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.005000028 0.9907799 0.9724136 NA 0.02400959 NA FALSE NA 0 -0.938 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA AGT G,A 8.236e-06 19:57578074 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 missense_variant -0.117017 0.10665 0.00701 0.493124 0.6291816 0 0.0005742039 FALSE 4.06072e-06 ENSE00002230447_011 ENSE00002230447 011 19 58089366 58089535 - 59 42 69 C T 58089448 3279 88 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAACTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578079 57578080 57578080 exon 19 0.452381 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAACTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 27 1232 1 0.9969462 0.9984731 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.009099816 0.9907799 0.9724136 NA 0.02605948 NA FALSE NA 0 -0.256 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA GCT C,T 8.236e-06 19:57578080 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 missense_variant 0.821743 0.17336 0.02894 0.493124 0.9502687 0 0.0005742039 FALSE 4.06065e-06 ENSE00002230447_012 ENSE00002230447 012 19 58089366 58089535 - 59 42 69 G A 58089456 3280 80 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGATTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578087 57578088 57578088 exon 11 0.2619048 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGATTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 254 245 1 0.9971541 0.998577 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.009307648 0.9907799 0.9724136 NA 0.0261634 NA FALSE NA 0 -0.007 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 rs200638893 1 NA AGT G,A 3.295e-05 19:57578088 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 missense_variant -0.471414 0.10831 0.01391 0.493124 0.9239343 0 0.0005742039 FALSE 5.68496e-05 ENSE00002230447_013 ENSE00002230447 013 19 58089366 58089535 - 59 42 69 A G 58089459 3281 77 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGCGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578090 57578091 57578091 exon 8 0.1904762 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGCGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 186 433 1 0.9699699 0.9849849 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 -0.01787654 0.9907799 0.9724136 NA 0.01257131 NA FALSE NA 0 -0.074 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA CAC A,G 3.295e-05 19:57578091 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 missense_variant -1.087472 0.1297 0.02016 0.493124 0.5900888 0 0.0005742039 FALSE 2.43641e-05 ENSE00002230447_014 ENSE00002230447 014 19 58089366 58089535 - 59 42 69 G A 58089461 3282 75 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCTGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578092 57578093 57578093 exon 6 0.1428571 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCTGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 220 19 1 1 1 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.01215359 0.9907799 0.9724136 NA 0.02758637 NA FALSE NA 0.002 0.547 rs75440348 upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 rs75440348&COSM193758 1 A:0.0084 A:0.0318 A:0 NA A:0 A:0 A:0 A:0.0259 A:0.0008 CGG G,A 0.00355 19:57578093 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 synonymous_variant 0.561344 0.14165 0.02337 0.608746 0.5530837 0 0.0005742039 FALSE 0.00315523 ENSE00002230447_015 ENSE00002230447 015 19 58089366 58089535 - 59 42 69 A G 58089486 3283 50 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCACAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578117 57578118 57578118 upstr_intron -20 -0.2753623 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCACAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 89 1001 1 0.9974249 0.9987124 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.009578449 0.9907799 0.9724136 NA 0.0262988 NA FALSE NA 0 -0.789 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA TAT A,G 8.236e-06 19:57578118 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant 0.065826 0.06833 0.00129 0.093295 0.52666 0.0933744 0.0005742039 FALSE 4.06081e-06 ENSE00002230447_016 ENSE00002230447 016 19 58089366 58089535 - 59 42 69 T C 58089498 3284 38 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTGCCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578129 57578130 57578130 upstr_intron -32 -0.4492754 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTGCCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 93 75 1 1 1 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.01215359 0.9907799 0.9724136 NA 0.02758637 NA FALSE NA 0 -2.556 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 rs534998314 1 NA GTA T,C 8.236e-06 19:57578130 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant -0.01813 0.09343 0.0034 0.093295 0.3969951 0.0559921 0.0005742039 FALSE 1.62463e-05 ENSE00002230447_017 ENSE00002230447 017 19 58089366 58089535 - 59 42 69 C T 58089501 3285 35 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAATTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578132 57578133 57578133 upstr_intron -35 -0.4927536 CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAATTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 121 293 1 1 1 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.01215359 0.9907799 0.9724136 NA 0.02758637 NA FALSE NA 0 0.125 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 rs200002886 1 NA ACT C,T 2.471e-05 19:57578133 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant 0.201717 0.09855 0.01705 0.093295 0.5420204 0.0560738 0.0005742039 FALSE 1.62476e-05 ENSE00002230447_018 ENSE00002230447 018 19 58089366 58089535 - 59 42 69 G A 58089505 3286 31 CAAGGAGGCATCAGCCCATGGAGCTTCCACTATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578136 57578137 57578137 upstr_intron -39 -0.5507246 CAAGGAGGCATCAGCCCATGGAGCTTCCACTATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 181 1115 1 0.9935563 0.9967782 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.005709905 0.9907799 0.9724136 NA 0.02436453 NA FALSE NA 0 -0.453 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA TGG G,A 3.295e-05 19:57578137 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant 0.106099 0.09981 0.01754 0.093295 0.545973 0.0560738 0.0005742039 FALSE 2.43736e-05 ENSE00002230447_019 ENSE00002230447 019 19 58089366 58089535 - 59 42 69 G T 58089506 3287 30 CAAGGAGGCATCAGCCCATGGAGCTTCCAACATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578137 57578138 57578138 upstr_intron -40 -0.5652174 CAAGGAGGCATCAGCCCATGGAGCTTCCAACATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 96 248 1 1 1 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.04301915 0.01215359 0.9907799 0.9724136 NA 0.02758637 NA FALSE NA 0 0.398 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 rs375151810 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GGT G,T 8.236e-06 19:57578138 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant -0.028716 0.15443 0.05529 0.093295 0.4524044 0.0560738 0.0005742039 FALSE 4.06256e-06 ENSE00002230447_021 ENSE00002230447 021 19 58089366 58089535 - 59 42 69 T C 58089518 3289 18 CAAGGAGGCATCAGCCCGTGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT 57577997 57578167 57578149 57578150 57578150 upstr_intron -52 -0.7391304 CAAGGAGGCATCAGCCCGTGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT CAAGGAGGCATCAGCCCATGGAGCTTCCACCATAGTTACCTGCCTCTCATAGCCTTCCTCTTCCCGCAGGTTCCCGTGACTGCAGAAGCTAAACTTATGGGCTTTACACAGGTGAGTGGAGAGTGTTTCGGGCCCTCACTGATGCTGACCCCAGTGTTTGTCTCTGAGAT mutant NA NA NA NA NA 522 16 0.9765928 0.9579015 0.9672471 0.9927725 0.9887874 0.9569809 0.9878464 NA NA 0.01961195 -0.02994493 0.9907799 0.9724136 NA -0.00516649 NA FALSE NA 0 -1.042 . upstream_gene_variant MODIFIER ZIK1 HGNC 33104 ENST00000598726 1 NA ATG T,C 8.237e-06 19:57578150 ZNF416 HGNC Symbol protein_coding 7361 ENSG00000083817 ENSE00002486368 intron_variant 0.016582 0.10339 0.01396 0.093295 0.360647 0.118372 0.0005742039 FALSE 1.21985e-05 ENSE00002233137_000 ENSE00002233137 000 1 40777281 40777450 - 53 54 63 NA NA NA NA NA GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 NA NA NA NA NA NA GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC natural 833 1149 0.8101754 0.8041675 0.8071715 705 720 0.5899863 0.417357 0.5036717 0.8101754 0.8041675 0.5899863 0.417357 0 0 0 0 0.8071715 0.5036717 0 0 0 FALSE FALSE NA NA NA NA NA COL9A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A2 NA NA NA ENSG00000049089 ENSE00003493625 NA NA NA NA NA NA NA 0.1828012 FALSE NA ENSE00002233137_001 ENSE00002233137 001 1 40777281 40777450 - 53 54 63 T C 40777298 1493 153 GACCCTTCTCCTTCCCCCGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311625 40311626 40311626 downstr_intron 36 1.692308 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCGGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 133 73 0.8291149 0.85 0.8395575 13 24 0.8 0.8 0.8 0.8101754 0.8041675 0.5899863 0.417357 0.0189395 0.04583249 0.2100137 0.382643 0.8071715 0.5036717 0.03238599 0.2963283 0.2639423 FALSE FALSE 0 -0.078 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA CTG .,C 8.236e-06 1:40311626 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant -0.030306 0.18089 0.06292 0.12324 0.6010856 0.119995 0.1828012 FALSE 4.06101e-06 ENSE00002233137_002 ENSE00002233137 002 1 40777281 40777450 - 53 54 63 C T 40777308 1494 143 GACCCTTCTCCTTCCCCTGCACTTTGCTATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311635 40311636 40311636 downstr_intron 26 1.5 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATAGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 21 40 0.85 0.85 0.85 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 NA NA 0.8071715 0.5036717 0.04282852 NA NA NA FALSE 0.001 1.488 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA CCA .,T 8.237e-06 1:40311636 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.527549 0.38906 0.3487 0.12324 0.7402353 0.911341 0.1828012 FALSE 4.06194e-06 ENSE00002233137_003 ENSE00002233137 003 1 40777281 40777450 - 53 54 63 C T 40777313 1495 138 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTTGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311640 40311641 40311641 downstr_intron 21 1.403846 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCAACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 57 17 0.85 0.85 0.85 13 213 0.8 0.8128856 0.8064428 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 0.2100137 0.3955286 0.8071715 0.5036717 0.04282852 0.3027711 0.2599426 FALSE FALSE 0.004 -0.052 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA TCG .,T 1.647e-05 1:40311641 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.311693 0.20947 0.0484 0.12189 0.6531462 0.16105 0.1828012 FALSE 8.12473e-06 ENSE00002233137_004 ENSE00002233137 004 1 40777281 40777450 - 53 54 63 G A 40777314 1496 137 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCAGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311641 40311642 40311642 downstr_intron 20 1.384615 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCTGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 23 25 0.8257947 0.85 0.8378974 102 671 0.03466824 0.1523169 0.09349259 0.8101754 0.8041675 0.5899863 0.417357 0.01561927 0.04583249 -0.5553181 -0.2650401 0.8071715 0.5036717 0.03072588 -0.4101791 0.440905 FALSE FALSE 0.009 0.386 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 rs371190226 1 NA A:0.0002 A:0 CGG .,A 1.647e-05 1:40311642 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.21969 0.25875 0.1197 0.12189 0.5911382 0.189561 0.1828012 FALSE 1.21876e-05 ENSE00002233137_005 ENSE00002233137 005 1 40777281 40777450 - 53 54 63 G A 40777316 1497 135 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGAGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311643 40311644 40311644 downstr_intron 18 1.346154 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCTCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 180 213 0.85 0.85 0.85 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 NA NA 0.8071715 0.5036717 0.04282852 NA NA NA FALSE 0 -1.02 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA GGG .,A 1.647e-05 1:40311644 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.048857 0.19707 0.01803 0.12189 0.4666788 0.189561 0.1828012 FALSE 8.12473e-06 ENSE00002233137_007 ENSE00002233137 007 1 40777281 40777450 - 53 54 63 G A 40777322 1499 129 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTAGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311649 40311650 40311650 downstr_intron 12 1.230769 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCTAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant NA NA NA NA NA 778 202 0.007832646 0.003184261 0.005508454 0.8101754 0.8041675 0.5899863 0.417357 NA NA -0.5821537 -0.4141728 0.8071715 0.5036717 NA -0.4981632 NA FALSE NA 0.013 0.895 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA TGG .,A 3.295e-05 1:40311650 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant -0.01693 0.2984 0.12944 0.12189 0.5072963 0.205305 0.1828012 FALSE 1.62518e-05 ENSE00002233137_008 ENSE00002233137 008 1 40777281 40777450 - 53 54 63 G A 40777324 1500 127 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGAGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311651 40311652 40311652 downstr_intron 10 1.192308 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCTCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant NA NA NA NA NA 134 164 0.00680706 0.01814218 0.01247462 0.8101754 0.8041675 0.5899863 0.417357 NA NA -0.5831793 -0.3992149 0.8071715 0.5036717 NA -0.4911971 NA FALSE NA 0.338 0.045 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA GGG .,A 8.237e-06 1:40311652 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.294 0.85864 0.12844 0.12189 0.5480597 0.283009 0.1828012 FALSE 4.06319e-06 ENSE00002233137_009 ENSE00002233137 009 1 40777281 40777450 - 53 54 63 G T 40777325 1501 126 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGTACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311652 40311653 40311653 downstr_intron 9 1.173077 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTACCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 200 314 0.85 0.85 0.85 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 NA NA 0.8071715 0.5036717 0.04282852 NA NA NA FALSE 1 2.206 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA GGA .,T 2.471e-05 1:40311653 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.266814 0.93487 0.86426 0.12189 0.5969827 0.408588 0.1828012 FALSE 1.21897e-05 ENSE00002233137_010 ENSE00002233137 010 1 40777281 40777450 - 53 54 63 G T 40777335 1502 116 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACATGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311662 40311663 40311663 exon -2 0.9814815 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACATGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 105 183 0.8394884 0.85 0.8447442 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.02931297 0.04583249 NA NA 0.8071715 0.5036717 0.03757273 NA NA NA FALSE 1 7.956 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA AGG .,T 1.648e-05 1:40311663 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 missense_variant 3.006897 0.96638 0.96304 0.646311 0.9787437 0 0.1828012 FALSE 8.12942e-06 ENSE00002233137_011 ENSE00002233137 011 1 40777281 40777450 - 53 54 63 G A 40777347 1503 104 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGAGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311674 40311675 40311675 exon -14 0.7592593 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACTCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 207 265 0.8312391 0.85 0.8406195 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.02106361 0.04583249 NA NA 0.8071715 0.5036717 0.03344805 NA NA NA FALSE 1 7.956 rs77937237 downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 rs77937237 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 GGG .,A 9.061e-05 1:40311675 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 missense_variant 1.136396 0.75181 0.91618 0.646311 0.8373029 0 0.1828012 FALSE 6.09766e-05 ENSE00002233137_012 ENSE00002233137 012 1 40777281 40777450 - 53 54 63 C T 40777350 1504 101 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTTCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311677 40311678 40311678 exon -17 0.7037037 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGAACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 40 52 0.85 0.85 0.85 194 350 0.3408955 0.4407321 0.3908138 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 -0.2490908 0.02337505 0.8071715 0.5036717 0.04282852 -0.1128579 0.1556864 FALSE FALSE 0.998 6.275 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 COSM1342621 1 NA TCC .,T 8.238e-06 1:40311678 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 missense_variant 2.888303 0.92195 0.92789 0.646311 0.9008086 0 0.1828012 FALSE NA ENSE00002233137_013 ENSE00002233137 013 1 40777281 40777450 - 53 54 63 G T 40777357 1505 94 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGTCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311684 40311685 40311685 exon -24 0.5740741 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGACCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 348 344 0.85 0.85 0.85 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 NA NA 0.8071715 0.5036717 0.04282852 NA NA NA FALSE 1 5.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:40311685 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 missense_variant 0.577607 0.95194 0.93039 0.646311 0.9460836 0 0.1828012 FALSE NA ENSE00002233137_014 ENSE00002233137 014 1 40777281 40777450 - 53 54 63 G A 40777357 1506 94 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGACCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311684 40311685 40311685 exon -24 0.5740741 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGTCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 363 544 0.007240451 0 0.003620226 2162 616 0.01383866 0.006907474 0.01037307 0.8101754 0.8041675 0.5899863 0.417357 -0.802935 -0.8041675 -0.5761477 -0.4104496 0.8071715 0.5036717 -0.8035513 -0.4932986 0.3102526 FALSE TRUE 1 5.06 NA NA NA COL9A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A2 NA NA NA ENSG00000049089 ENSE00003493625 missense_variant 0.683757 0.95098 0.91323 0.646311 0.9432615 0 0.1828012 FALSE 4.06511e-06 ENSE00002233137_015 ENSE00002233137 015 1 40777281 40777450 - 53 54 63 C T 40777358 1507 93 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGTCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311685 40311686 40311686 exon -25 0.5555556 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGACCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 230 340 0.8612156 0.85 0.8556078 745 1012 0.9100123 0.945949 0.9279807 0.8101754 0.8041675 0.5899863 0.417357 0.05104013 0.04583249 0.320026 0.528592 0.8071715 0.5036717 0.04843631 0.424309 0.3758727 FALSE FALSE 0.006 -1.373 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA GCC .,T 8.239e-06 1:40311686 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 synonymous_variant 0.937148 0.84461 0.10057 0.646311 0.537772 0 0.1828012 FALSE 4.06524e-06 ENSE00002233137_016 ENSE00002233137 016 1 40777281 40777450 - 53 54 63 C T 40777361 1508 90 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCTGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311688 40311689 40311689 exon 27 0.5 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCAGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 151 179 0.008697612 0.116463 0.06258033 81 1291 0 0 0 0.8101754 0.8041675 0.5899863 0.417357 -0.8014778 -0.6877045 -0.5899863 -0.417357 0.8071715 0.5036717 -0.7445911 -0.5036717 0.2409195 TRUE TRUE 0.85 0.019 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 COSM909438 1 NA CCG .,T 2.472e-05 1:40311689 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 synonymous_variant 1.311137 0.93606 0.15811 0.646311 0.5484355 0 0.1828012 FALSE 6.91063e-05 ENSE00002233137_017 ENSE00002233137 017 1 40777281 40777450 - 53 54 63 G A 40777362 1509 89 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCAATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311689 40311690 40311690 exon 26 0.4814815 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATTGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 15 25 0 0 0 719 39 0.02339438 0 0.01169719 0.8101754 0.8041675 0.5899863 0.417357 -0.8101754 -0.8041675 -0.566592 -0.417357 0.8071715 0.5036717 -0.8071715 -0.4919745 0.315197 FALSE TRUE 0.879 3.594 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA CGA .,A 3.296e-05 1:40311690 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 missense_variant 2.67178 0.98588 0.94167 0.646311 0.991205 0 0.1828012 FALSE 3.25195e-05 ENSE00002233137_018 ENSE00002233137 018 1 40777281 40777450 - 53 54 63 T C 40777364 1510 87 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGACGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311691 40311692 40311692 exon 24 0.4444444 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCGTCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 182 327 0.85 0.85 0.85 89 749 0.8 0.6922818 0.7461409 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 0.2100137 0.2749247 0.8071715 0.5036717 0.04282852 0.2424692 0.1996407 FALSE FALSE 0.607 0.149 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA ATG .,C 8.239e-06 1:40311692 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 synonymous_variant -0.410762 0.95868 0.75542 0.646311 0.6458342 0 0.1828012 FALSE 8.13061e-06 ENSE00002233137_019 ENSE00002233137 019 1 40777281 40777450 - 53 54 63 G T 40777365 1511 86 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATTGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311692 40311693 40311693 exon 23 0.4259259 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACAATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 35 22 0.85 0.85 0.85 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 NA NA 0.8071715 0.5036717 0.04282852 NA NA NA FALSE 1 6.217 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 COSM3489551 1 NA TGG .,T 1.648e-05 1:40311693 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 missense_variant 1.495931 0.98701 0.98177 0.646311 0.9337529 0 0.1828012 FALSE 8.13035e-06 ENSE00002233137_020 ENSE00002233137 020 1 40777281 40777450 - 53 54 63 C T 40777377 1512 74 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTTCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311704 40311705 40311705 exon 11 0.2037037 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGAACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 383 315 0.00343665 0 0.001718325 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 -0.8067388 -0.8041675 NA NA 0.8071715 0.5036717 -0.8054532 NA NA NA TRUE 1 6.275 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA TCC .,T 1.648e-05 1:40311705 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 missense_variant 5.007226 0.99149 0.98226 0.646311 0.9948836 0 0.1828012 FALSE 8.13021e-06 ENSE00002233137_021 ENSE00002233137 021 1 40777281 40777450 - 53 54 63 A T 40777402 1513 49 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGATGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311729 40311730 40311730 upstr_intron -15 -0.2222222 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCATCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 163 160 0 0.00406972 0.00203486 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 -0.8101754 -0.8000978 NA NA 0.8071715 0.5036717 -0.8051366 NA NA NA TRUE 0 0.298 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA AAG .,T 8.24e-06 1:40311730 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.092954 0.29012 0.03252 0.07321 0.6760576 0.126306 0.1828012 FALSE 4.0657e-06 ENSE00002233137_022 ENSE00002233137 022 1 40777281 40777450 - 53 54 63 C T 40777415 1514 36 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATATCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311742 40311743 40311743 upstr_intron -28 -0.4285714 GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGATATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 47 84 0.85 0.85 0.85 125 67 0.8 0.8 0.8 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 0.2100137 0.382643 0.8071715 0.5036717 0.04282852 0.2963283 0.2534998 FALSE FALSE 0 -1.847 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA ACC .,T 8.241e-06 1:40311743 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 1.223806 0.19909 0.01085 0.07321 0.8182897 0.0953927 0.1828012 FALSE 4.06745e-06 ENSE00002233137_023 ENSE00002233137 023 1 40777281 40777450 - 53 54 63 G T 40777425 1515 26 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCATCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311752 40311753 40311753 upstr_intron -38 -0.5873016 GGGCACTAGGGTAAGCTGGTAAGGGATGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 43 64 0.85 0.85 0.85 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 NA NA 0.8071715 0.5036717 0.04282852 NA NA NA FALSE 0.005 1.817 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 rs368403119 1 NA T:0 T:0.0001 AGC .,T 8.242e-06 1:40311753 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.982994 0.20149 0.05735 0.07321 0.8342455 0.094022 0.1828012 FALSE 4.07034e-06 ENSE00002233137_024 ENSE00002233137 024 1 40777281 40777450 - 53 54 63 C T 40777427 1516 24 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCTCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 40311754 40311755 40311755 upstr_intron -40 -0.6190476 GGGCACTAGGGTAAGCTGGTAAGAGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 147 152 0.85 0.85 0.85 243 11 0.8 0.8 0.8 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 0.2100137 0.382643 0.8071715 0.5036717 0.04282852 0.2963283 0.2534998 FALSE FALSE 0 -0.215 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA CCC .,T 8.242e-06 1:40311755 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 1.172021 0.17391 0.0158 0.07321 0.7808472 0.064323 0.1828012 FALSE 4.06997e-06 ENSE00002233137_025 ENSE00002233137 025 1 40777281 40777450 - 53 54 63 T C 40777430 1517 21 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTCACCAGCTTACCCTAGTGCCC 40311608 40311778 40311757 40311758 40311758 upstr_intron -43 -0.6666667 GGGCACTAGGGTAAGCTGGTGAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 60 70 0.85 0.9355816 0.8927908 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.1314141 NA NA 0.8071715 0.5036717 0.08561933 NA NA NA FALSE 0 -0.158 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 1 NA TTA .,C 8.242e-06 1:40311758 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.844309 0.19843 0.01082 0.07321 0.8270476 0.064323 0.1828012 FALSE 8.14518e-06 ENSE00002233137_026 ENSE00002233137 026 1 40777281 40777450 - 53 54 63 C A 40777432 1518 19 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTAACAGCTTACCCTAGTGCCC 40311608 40311778 40311759 40311760 40311760 upstr_intron -45 -0.6984127 GGGCACTAGGGTAAGCTGTTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 149 211 0.85 0.85 0.85 189 72 0.8202559 0.7727643 0.7965101 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 0.2302695 0.3554073 0.8071715 0.5036717 0.04282852 0.2928384 0.2500099 FALSE FALSE 0.001 1.238 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:40311760 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.710268 0.22303 0.12858 0.07321 0.8162632 0.064323 0.1828012 FALSE 4.48007e-05 ENSE00002233137_027 ENSE00002233137 027 1 40777281 40777450 - 53 54 63 C T 40777432 1519 19 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTATCAGCTTACCCTAGTGCCC 40311608 40311778 40311759 40311760 40311760 upstr_intron -45 -0.6984127 GGGCACTAGGGTAAGCTGATAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 38 47 0.85 0.85 0.85 86 282 0.7756491 0.6545482 0.7150987 0.8101754 0.8041675 0.5899863 0.417357 0.03982456 0.04583249 0.1856627 0.2371912 0.8071715 0.5036717 0.04282852 0.211427 0.1685984 FALSE FALSE 0.001 1.238 NA NA NA COL9A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A2 NA NA NA ENSG00000049089 ENSE00003493625 intron_variant 0.743426 0.19658 0.06248 0.07321 0.7609159 0.064323 0.1828012 FALSE 8.14558e-06 ENSE00002233137_028 ENSE00002233137 028 1 40777281 40777450 - 53 54 63 C T 40777436 1520 15 GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTACAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCCTGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGTTTACCCTAGTGCCC 40311608 40311778 40311763 40311764 40311764 upstr_intron -49 -0.7619048 GGGCACTAGGGTAAACTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC mutant 267 261 0.8479444 0.85 0.8489722 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 0.03776892 0.04583249 NA NA 0.8071715 0.5036717 0.0418007 NA NA NA FALSE 0 -0.347 . downstream_gene_variant MODIFIER COL9A2 HGNC 2218 ENST00000490132 rs201027943 1 T:0.0004 T:0.0008 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0016 GCT .,T 0.0009149 1:40311764 COL9A2 HGNC Symbol protein_coding 17326 ENSG00000049089 ENSE00003493625 intron_variant 0.148988 0.15049 0.00422 0.07321 0.6186731 0.064323 0.1828012 FALSE 0.000798572 ENSE00002233137_BRK ENSE00002233137 BRK 1 40777281 40777450 - 53 54 63 A,G; T,T NA NA NA GACCCTTCTCCTTCCCCTGCACTTTGCCATGTCGGGGGTCTGGGGACACTTGGAGGTTTCCCAGGGGGTCCTGGGGGCCCCGATGGTCCATCTGGTCCAGGGTCCCCAAGGAAGCAAAAGAAGCCCAAATCATACCCCTGACCAGCCCTTACCAGCTTACCCTAGTGCCC 40311608 40311778 NA NA NA NA NA NA GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCTTGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTCCAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC GGGCACTAGGGTAAGCTGGTAAGGGCTGGTCAGGGGTATGATTTGGGCTTCTTTTGCTTCCAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGTAAGTGTCCCCAGACCCCCGACATGGCAAAGTGCAGGGGAAGGAGAAGGGTC control 1371 431 0 0 0 NA NA NA NA NA 0.8101754 0.8041675 0.5899863 0.417357 -0.8101754 -0.8041675 NA NA 0.8071715 0.5036717 -0.8071715 NA NA NA TRUE NA NA NA NA NA COL9A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A2 NA NA NA ENSG00000049089 ENSE00003493625 NA NA NA NA NA NA NA 0.1828012 FALSE NA ENSE00002233541_000 ENSE00002233541 000 22 44235786 44235955 - 39 81 50 NA NA NA NA NA CTTGGTCTCACCCTTTCCTCTGACCTGCCTCTCCCTCTGACTCCACGCAGGAACTGACCTCTCCCCGCCTCATCAAGAGCCACCTGCCCTACCGCTTTCTGCCCTCTGACCTCCACAATGGAGACTCCAAGGTAAGCTGGCACCTCCTCTGCCTCCCGAGATGAGTCCCC 43839905 43840075 NA NA NA NA NA NA CTTGGTCTCACCCTTTCCTCTGACCTGCCTCTCCCTCTGACTCCACGCAGGAACTGACCTCTCCCCGCCTCATCAAGAGCCACCTGCCCTACCGCTTTCTGCCCTCTGACCTCCACAATGGAGACTCCAAGGTAAGCTGGCACCTCCTCTGCCTCCCGAGATGAGTCCCC CTTGGTCTCACCCTTTCCTCTGACCTGCCTCTCCCTCTGACTCCACGCAGGAACTGACCTCTCCCCGCCTCATCAAGAGCCACCTGCCCTACCGCTTTCTGCCCTCTGACCTCCACAATGGAGACTCCAAGGTAAGCTGGCACCTCCTCTGCCTCCCGAGATGAGTCCCC natural NA NA NA NA NA 1235 762 0.9966221 0.9989948 0.9978085 NA NA 0.9966221 0.9989948 NA NA 0 0 NA 0.9978085 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SULT4A1 NA NA NA ENSG00000130540 ENSE00003551642 NA NA NA NA NA NA NA 0.9681283 TRUE NA ENSE00002233541_012 ENSE00002233541 012 22 44235786 44235955 - 39 81 50 A G 44235896 1312 60 CTTGGTCTCACCCTTTCCTCTGACCTGCCTCTCCCTCTGACTCCACGCAGGAACTGACCCCTCCCCGCCTCATCAAGAGCCACCTGCCCTACCGCTTTCTGCCCTCTGACCTCCACAATGGAGACTCCAAGGTAAGCTGGCACCTCCTCTGCCTCCCGAGATGAGTCCCC 43839905 43840075 43840015 43840016 43840016 exon 10 0.1234568 CTTGGTCTCACCCTTTCCTCTGACCTGCCTCTCCCTCTGACTCCACGCAGGAACTGACCCCTCCCCGCCTCATCAAGAGCCACCTGCCCTACCGCTTTCTGCCCTCTGACCTCCACAATGGAGACTCCAAGGTAAGCTGGCACCTCCTCTGCCTCCCGAGATGAGTCCCC CTTGGTCTCACCCTTTCCTCTGACCTGCCTCTCCCTCTGACTCCACGCAGGAACTGACCTCTCCCCGCCTCATCAAGAGCCACCTGCCCTACCGCTTTCTGCCCTCTGACCTCCACAATGGAGACTCCAAGGTAAGCTGGCACCTCCTCTGCCTCCCGAGATGAGTCCCC mutant NA NA NA NA NA 34 32 1 1 1 NA NA 0.9966221 0.9989948 NA NA 0.003377906 0.001005164 NA 0.9978085 NA 0.002191535 NA FALSE NA 1 5.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:43840016 SULT4A1 HGNC Symbol protein_coding 37994 ENSG00000130540 ENSE00003551642 missense_variant 5.56655 0.96968 0.90182 0.695654 0.9942101 0 0.9681283 TRUE 0 ENSE00002234720_000 ENSE00002234720 000 6 90361876 90362045 - 35 90 45 NA NA NA NA NA GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 NA NA NA NA NA NA GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT natural 111 93 0.998191 0.9987579 0.9984744 7573 6535 0.9550125 0.9230535 0.939033 0.998191 0.9987579 0.9550125 0.9230535 0 0 0 0 0.9984744 0.939033 0 0 0 FALSE FALSE NA NA NA NA NA MDN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDN1 NA NA NA ENSG00000112159 ENSE00002234720 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002234720_001 ENSE00002234720 001 6 90361876 90362045 - 35 90 45 A C 90361891 2005 155 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTGTTTTTCATAAAATAT 89652156 89652326 89652171 89652172 89652172 downstr_intron 20 1.588235 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTGTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 1367 1344 0.9975245 0.9992889 0.9984067 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04251199 0.07623547 0.9984744 0.939033 NA 0.05937373 NA FALSE NA 0 -0.088 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 95/101 1 NA AAA A,C 1.647e-05 6:89652172 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant -0.48411 0.14662 0.10446 0.156188 0.3492921 0.0666035 1 TRUE 2.14059e-05 ENSE00002234720_003 ENSE00002234720 003 6 90361876 90362045 - 35 90 45 G T 90361895 2007 151 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCAATGTTTTTTTCATAAAATAT 89652156 89652326 89652175 89652176 89652176 downstr_intron 16 1.470588 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCAATGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 1830 2236 0.9974868 0.9732581 0.9853724 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04247425 0.05020462 0.9984744 0.939033 NA 0.04633944 NA FALSE NA 0.017 1.289 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 95/101 1 NA AGT G,T 8.237e-06 6:89652176 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant -0.407599 0.19754 0.11166 0.156188 0.1532406 0.0666035 1 TRUE NA ENSE00002234720_004 ENSE00002234720 004 6 90361876 90362045 - 35 90 45 A G 90361898 2008 148 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCCCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652178 89652179 89652179 downstr_intron 13 1.382353 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCCCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 523 199 0.9945229 0.994196 0.9943594 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.03951035 0.07114248 0.9984744 0.939033 NA 0.05532641 NA FALSE NA 0.01 0.064 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 95/101 1 NA GAG A,G 8.236e-06 6:89652179 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant -0.094005 0.25481 0.02047 0.156188 0.2502851 0.0666035 1 TRUE 4.12334e-06 ENSE00002234720_005 ENSE00002234720 005 6 90361876 90362045 - 35 90 45 G C 90361902 2009 144 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCAGTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652182 89652183 89652183 downstr_intron 9 1.264706 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCAGTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 1451 718 0.9995773 0.999247 0.9994121 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04456475 0.0761935 0.9984744 0.939033 NA 0.06037913 NA FALSE NA 0 -0.399 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 95/101 1 NA AGT G,C 3.295e-05 6:89652183 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant 0.809028 0.239 0.18427 0.295142 0.5784841 0.0758477 1 TRUE 3.27984e-05 ENSE00002234720_006 ENSE00002234720 006 6 90361876 90362045 - 35 90 45 T C 90361908 2010 138 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTGAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652188 89652189 89652189 downstr_intron 3 1.088235 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTGAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 831 595 0.9992191 0.9963479 0.9977835 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04420657 0.07329438 0.9984744 0.939033 NA 0.05875047 NA FALSE NA 0.998 0.778 . splice_region_variant&intron_variant LOW MDN1 HGNC 18302 ENST00000369393 95/101 1 NA TTA T,C 8.236e-06 6:89652189 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 splice_region_variant 1.12021 0.97228 0.75902 0.295142 0.765379 0.80244 1 TRUE 4.07448e-06 ENSE00002234720_007 ENSE00002234720 007 6 90361876 90362045 - 35 90 45 G C 90361927 2011 119 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATGTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652207 89652208 89652208 exon -17 0.8222222 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATGTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 631 949 1 0.9895102 0.9947551 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04498745 0.06645675 0.9984744 0.939033 NA 0.0557221 NA FALSE NA 1 3.575 . missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 95/102 1 unknown(0) NA AGA G,C 8.236e-06 6:89652208 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 missense_variant 2.489232 0.965 0.96563 0.732398 0.8107762 0 1 TRUE 4.06643e-06 ENSE00002234720_008 ENSE00002234720 008 6 90361876 90362045 - 35 90 45 C T 90361933 2012 113 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACATGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652213 89652214 89652214 exon -23 0.7555556 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACATGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 801 341 0.8229052 0.9813971 0.9021512 0.998191 0.9987579 0.9550125 0.9230535 NA NA -0.1321073 0.05834363 0.9984744 0.939033 NA -0.03688184 NA FALSE NA 0.937 1.771 rs150459823 missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 95/102 rs150459823 1 unknown(0) NA T:0 T:0.0001 ACG C,T 4.118e-05 6:89652214 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 missense_variant 2.250977 0.61497 0.12877 0.732398 0.7802551 0 1 TRUE 2.03282e-05 ENSE00002234720_009 ENSE00002234720 009 6 90361876 90362045 - 35 90 45 G A 90361934 2013 112 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCATGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652214 89652215 89652215 exon -24 0.7444444 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCATGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 493 442 0.9797329 0.9951738 0.9874533 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.02472035 0.0721203 0.9984744 0.939033 NA 0.04842032 NA FALSE NA 0.997 5.581 . missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 95/102 1 unknown(0) NA CGT G,A 1.647e-05 6:89652215 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 missense_variant 4.710869 0.95021 0.97934 0.732398 0.9563223 0 1 TRUE 2.03292e-05 ENSE00002234720_010 ENSE00002234720 010 6 90361876 90362045 - 35 90 45 C T 90361944 2014 102 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATATGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652224 89652225 89652225 exon -34 0.6333333 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATATGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 2070 1668 0.998962 0.8810152 0.9399886 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04394942 -0.04203827 0.9984744 0.939033 NA 0.0009555767 NA FALSE NA 0.002 -2.73 . missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 95/102 1 unknown(0) NA ACA C,T 8.236e-06 6:89652225 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 missense_variant 2.053979 0.28939 0.03321 0.732398 0.8012568 0 1 TRUE 4.06448e-06 ENSE00002234720_011 ENSE00002234720 011 6 90361876 90362045 - 35 90 45 G A 90361952 2015 94 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGTTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652232 89652233 89652233 exon -42 0.5444444 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGTTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 1157 2003 0.9991022 0.9620045 0.9805534 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04408969 0.03895103 0.9984744 0.939033 NA 0.04152036 NA FALSE NA 1 2.521 . synonymous_variant LOW MDN1 HGNC 18302 ENST00000369393 95/102 rs371868553 1 NA A:0.0002 A:0 AGC G,A 8.236e-06 6:89652233 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 synonymous_variant 1.650301 0.9801 0.93455 0.732398 0.8595473 0 1 TRUE NA ENSE00002234720_012 ENSE00002234720 012 6 90361876 90362045 - 35 90 45 G A 90361964 2016 82 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGTTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652244 89652245 89652245 exon 37 0.4111111 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGTTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 644 1257 0.9952063 0.9963138 0.99576 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04019372 0.07326036 0.9984744 0.939033 NA 0.05672704 NA FALSE NA 1 0.981 . synonymous_variant LOW MDN1 HGNC 18302 ENST00000369393 95/102 rs567413072 1 NA AGC G,A 2.471e-05 6:89652245 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 synonymous_variant 1.627435 0.96848 0.86288 0.732398 0.8611035 0 1 TRUE 1.21922e-05 ENSE00002234720_013 ENSE00002234720 013 6 90361876 90362045 - 35 90 45 A G 90361980 2017 66 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAACGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652260 89652261 89652261 exon 21 0.2333333 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAACGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 974 208 0.9979111 1 0.9989555 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04289852 0.07694653 0.9984744 0.939033 NA 0.05992253 NA FALSE NA 0.915 2.187 . synonymous_variant LOW MDN1 HGNC 18302 ENST00000369393 95/102 1 NA CAT A,G 8.236e-06 6:89652261 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 synonymous_variant 1.132816 0.89548 0.90555 0.732398 0.6838247 0 1 TRUE 4.08614e-06 ENSE00002234720_014 ENSE00002234720 014 6 90361876 90362045 - 35 90 45 T C 90361981 2018 65 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAGTGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652261 89652262 89652262 exon 20 0.2222222 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAGTGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 2786 725 0.9981671 0.9948083 0.9964877 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04315454 0.07175487 0.9984744 0.939033 NA 0.0574547 NA FALSE NA 0.153 -0.66 . missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 95/102 1 unknown(0) NA ATT T,C 8.236e-06 6:89652262 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 missense_variant 0.899077 0.695 0.18103 0.732398 0.9315868 0 1 TRUE 1.2235e-05 ENSE00002234720_015 ENSE00002234720 015 6 90361876 90362045 - 35 90 45 A G 90362005 2019 41 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTCTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652285 89652286 89652286 upstr_intron -5 -0.08888889 GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTCTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 537 204 0.9851319 0.9979212 0.9915265 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.03011934 0.07486768 0.9984744 0.939033 NA 0.05249351 NA FALSE NA 0.495 -0.071 . splice_region_variant&intron_variant LOW MDN1 HGNC 18302 ENST00000369393 94/101 rs533132793 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAA A,G 8.236e-06 6:89652286 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 splice_region_variant 0.753893 0.88282 0.38828 0.156188 0.7326133 0.413517 1 TRUE 4.094e-06 ENSE00002234720_016 ENSE00002234720 016 6 90361876 90362045 - 35 90 45 A G 90362017 2020 29 GATTCCAACCTGGGCCACCTCTTATCTACGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652297 89652298 89652298 upstr_intron -17 -0.3555556 GATTCCAACCTGGGCCACCTCTTATCTACGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 2055 974 0.9977716 0.9880591 0.9929154 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04275904 0.06500567 0.9984744 0.939033 NA 0.05388236 NA FALSE NA 0.002 1.243 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 94/101 1 NA CAT A,G 8.237e-06 6:89652298 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant 0.527678 0.43196 0.30254 0.099367 0.759714 0.677901 1 TRUE 4.09772e-06 ENSE00002234720_017 ENSE00002234720 017 6 90361876 90362045 - 35 90 45 T C 90362018 2021 28 GATTCCAACCTGGGCCACCTCTTATCTGTGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652298 89652299 89652299 upstr_intron -18 -0.3777778 GATTCCAACCTGGGCCACCTCTTATCTGTGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 613 1808 0.8605981 0.9928032 0.9267006 0.998191 0.9987579 0.9550125 0.9230535 NA NA -0.09441449 0.06974975 0.9984744 0.939033 NA -0.01233237 NA FALSE NA 0 -0.561 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 94/101 1 NA ATA T,C 8.237e-06 6:89652299 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant -0.062084 0.15839 0.00786 0.099367 0.6949266 0.155388 1 TRUE 4.09873e-06 ENSE00002234720_018 ENSE00002234720 018 6 90361876 90362045 - 35 90 45 T C 90362022 2022 24 GATTCCAACCTGGGCCACCTCTTGTCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652302 89652303 89652303 upstr_intron -22 -0.4666667 GATTCCAACCTGGGCCACCTCTTGTCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 303 409 0.9148855 0.8932015 0.9040435 0.998191 0.9987579 0.9550125 0.9230535 NA NA -0.04012706 -0.02985199 0.9984744 0.939033 NA -0.03498953 NA FALSE NA 0.628 1.804 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:89652303 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant 0.010604 0.30542 0.80998 0.099367 0.7356661 0.155388 1 TRUE 8.20951e-06 ENSE00002234720_019 ENSE00002234720 019 6 90361876 90362045 - 35 90 45 T A 90362022 2023 24 GATTCCAACCTGGGCCACCTCTTTTCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652302 89652303 89652303 upstr_intron -22 -0.4666667 GATTCCAACCTGGGCCACCTCTTTTCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 361 1051 1 0.998119 0.9990595 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04498745 0.07506554 0.9984744 0.939033 NA 0.0600265 NA FALSE NA 0.628 1.804 NA NA NA MDN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDN1 NA NA NA ENSG00000112159 ENSE00002234720 intron_variant 0.271215 0.31061 0.87755 0.099367 0.5461545 0.155388 1 TRUE NA ENSE00002234720_020 ENSE00002234720 020 6 90361876 90362045 - 35 90 45 G C 90362025 2024 21 GATTCCAACCTGGGCCACCTGTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652305 89652306 89652306 upstr_intron -25 -0.5333333 GATTCCAACCTGGGCCACCTGTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 1576 1346 0.9892749 0.9901453 0.9897101 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.03426235 0.0670918 0.9984744 0.939033 NA 0.05067707 NA FALSE NA 0.724 1.206 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 94/101 1 NA AGA G,C 1.647e-05 6:89652306 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant -0.078747 0.31031 0.77272 0.088506 0.6539511 0.155388 1 TRUE 4.11553e-06 ENSE00002234720_022 ENSE00002234720 022 6 90361876 90362045 - 35 90 45 G A 90362031 2026 15 GATTCCAACCTGGGTCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652311 89652312 89652312 upstr_intron -31 -0.6666667 GATTCCAACCTGGGTCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 1780 1304 0.9229488 0.9994393 0.961194 0.998191 0.9987579 0.9550125 0.9230535 NA NA -0.03206379 0.07638585 0.9984744 0.939033 NA 0.02216103 NA FALSE NA 0 0.586 rs188811475 intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 94/101 rs188811475 1 A:0.0022 A:0.0068 A:0.0029 NA A:0 A:0 A:0 A:0.0102 A:0 GGC G,A 0.0009307 6:89652312 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant 0.160222 0.17674 0.05095 0.088506 0.4756885 0.155388 1 TRUE 0.000670646 ENSE00002234720_023 ENSE00002234720 023 6 90361876 90362045 - 35 90 45 C T 90362032 2027 14 GATTCCAACCTGGACCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652312 89652313 89652313 upstr_intron -32 -0.6888889 GATTCCAACCTGGACCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 712 1349 0.991188 0.986118 0.988653 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.03617549 0.06306449 0.9984744 0.939033 NA 0.04961999 NA FALSE NA 0 -0.371 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 94/101 1 NA GCC C,T 8.237e-05 6:89652313 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant 0.280708 0.19218 0.06231 0.088506 0.3825795 0.155388 1 TRUE 7.03893e-05 ENSE00002234720_024 ENSE00002234720 024 6 90361876 90362045 - 35 90 45 C T 90362033 2028 13 GATTCCAACCTGAGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 89652313 89652314 89652314 upstr_intron -33 -0.7111111 GATTCCAACCTGAGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT mutant NA NA NA NA NA 1582 940 0.9965425 0.9996634 0.998103 0.998191 0.9987579 0.9550125 0.9230535 NA NA 0.04153 0.07660989 0.9984744 0.939033 NA 0.05906994 NA FALSE NA 0 -0.288 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 94/101 1 NA CCC C,T 8.237e-06 6:89652314 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002234720 intron_variant -0.02149 0.22554 0.02965 0.088506 0.4714124 0.155388 1 TRUE 4.14151e-06 ENSE00002234720_BRK ENSE00002234720 BRK 6 90361876 90362045 - 35 90 45 A,G; T,T NA NA NA GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTTTCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGCCAAGTCACTGCTCACTGTTTTTTTCATAAAATAT 89652156 89652326 NA NA NA NA NA NA GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTTTCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGCCAAGTCACTGCTCACTGTTTTTTTCATAAAATAT GATTCCAACCTGGGCCACCTCTTATCTATGGCTTTTTCTTTTTAGCCCTTTTTAAAAGATGTCAATGAGCTAAGACAGGAGCTGGAGAGACAGCTGGAAATGTGGCAGCCACGTGAATCTGGAAACCCAGAGGAGGTAAGTCACTGCTCACTGTTTTTTTCATAAAATAT control 126 213 0 0 0 437 1800 0.1004719 0.002677551 0.05157471 0.998191 0.9987579 0.9550125 0.9230535 -0.998191 -0.9987579 -0.8545407 -0.9203759 0.9984744 0.939033 -0.9984744 -0.8874583 0.1110161 TRUE TRUE NA NA NA NA NA MDN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDN1 NA NA NA ENSG00000112159 ENSE00002234720 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002238703_000 ENSE00002238703 000 16 71411520 71411689 + 50 81 39 NA NA NA NA NA CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 NA NA NA NA NA NA CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC natural 81 88 0.996706 0.9971655 0.9969358 1901 815 0.9903977 0.9791276 0.9847626 0.996706 0.9971655 0.9903977 0.9791276 0 0 0 0 0.9969358 0.9847626 0 0 0 FALSE FALSE NA NA NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002517469 NA NA NA NA NA NA NA 0.001238901 FALSE NA ENSE00002238703_001 ENSE00002238703 001 16 71411520 71411689 + 50 81 39 C A 71411535 2590 16 CCCTGTCAAGTCCCTACATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377631 71377632 71377632 upstr_intron -35 -0.68 CCCTGTCAAGTCCCTACATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 300 78 1 1 1 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 0.02087242 0.9969358 0.9847626 NA 0.01523737 NA FALSE NA 0.001 0.276 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 3/9 1 NA TCC C,A 8.237e-06 16:71377632 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant 0.244871 0.36716 0.12381 0.078448 0.7380745 0.123017 0.001238901 FALSE 4.12198e-06 ENSE00002238703_002 ENSE00002238703 002 16 71411520 71411689 + 50 81 39 C T 71411541 2591 22 CCCTGTCAAGTCCCTCCATAATGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377637 71377638 71377638 upstr_intron -29 -0.56 CCCTGTCAAGTCCCTCCATAATGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 396 534 0.997797 1 0.9988985 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.007399289 0.02087242 0.9969358 0.9847626 NA 0.01413585 NA FALSE NA 0 -2.832 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 3/9 rs537029177 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACG C,T 2.471e-05 16:71377638 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant -0.241794 0.13176 0.0016 0.078448 0.6310069 0.078079 0.001238901 FALSE 2.04816e-05 ENSE00002238703_003 ENSE00002238703 003 16 71411520 71411689 + 50 81 39 G A 71411542 2592 23 CCCTGTCAAGTCCCTCCATAACATTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377638 71377639 71377639 upstr_intron -28 -0.54 CCCTGTCAAGTCCCTCCATAACATTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 820 134 0.9992953 1 0.9996476 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.008897584 0.02087242 0.9969358 0.9847626 NA 0.014885 NA FALSE NA 0 -0.467 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 3/9 rs548839248 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 1.647e-05 16:71377639 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant -0.1828 0.18569 0.00863 0.078448 0.5768491 0.078079 0.001238901 FALSE 1.63827e-05 ENSE00002238703_004 ENSE00002238703 004 16 71411520 71411689 + 50 81 39 G A 71411548 2593 29 CCCTGTCAAGTCCCTCCATAACGTTAGTATCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377644 71377645 71377645 upstr_intron -22 -0.42 CCCTGTCAAGTCCCTCCATAACGTTAGTATCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 50 562 1 0.9997185 0.9998592 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 0.0205909 0.9969358 0.9847626 NA 0.01509662 NA FALSE NA 0.97 1.485 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 3/9 1 NA TGT G,A 8.237e-06 16:71377645 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant 0.07055 0.2297 0.6501 0.078448 0.5568569 0.078079 0.001238901 FALSE 8.16347e-06 ENSE00002238703_005 ENSE00002238703 005 16 71411520 71411689 + 50 81 39 T G 71411549 2594 30 CCCTGTCAAGTCCCTCCATAACGTTAGTGGCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377645 71377646 71377646 upstr_intron -21 -0.4 CCCTGTCAAGTCCCTCCATAACGTTAGTGGCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant 59 38 0.9978233 0.9897918 0.9938075 NA NA NA NA NA 0.996706 0.9971655 0.9903977 0.9791276 0.001117261 -0.007373705 NA NA 0.9969358 0.9847626 -0.003128222 NA NA NA FALSE 0.939 1.011 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 3/9 1 NA GTC T,G 3.295e-05 16:71377646 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant 0.232952 0.3189 0.66775 0.078448 0.4355319 0.078079 0.001238901 FALSE 2.85584e-05 ENSE00002238703_010 ENSE00002238703 010 16 71411520 71411689 + 50 81 39 G T 71411558 2599 39 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTTTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377654 71377655 71377655 upstr_intron -12 -0.22 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTTTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 368 372 0.9915591 0.9940574 0.9928082 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.001161432 0.01492977 0.9969358 0.9847626 NA 0.008045601 NA FALSE NA 0.07 -0.429 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 3/9 1 NA TGT G,T 8.236e-06 16:71377655 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant 0.965043 0.96291 0.31612 0.078448 0.689897 0.287832 0.001238901 FALSE 1.62878e-05 ENSE00002238703_011 ENSE00002238703 011 16 71411520 71411689 + 50 81 39 A G 71411560 2600 41 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTGTCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377656 71377657 71377657 upstr_intron -10 -0.18 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTGTCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 180 324 0.8701669 1 0.9350834 0.996706 0.9971655 0.9903977 0.9791276 NA NA -0.1202308 0.02087242 0.9969358 0.9847626 NA -0.04967919 NA FALSE NA 0.065 0.786 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 3/9 1 NA TAT A,G 8.236e-06 16:71377657 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant 0.759866 0.96373 0.22888 0.078448 0.5162436 0.291928 0.001238901 FALSE 4.07153e-06 ENSE00002238703_012 ENSE00002238703 012 16 71411520 71411689 + 50 81 39 C A 71411570 2601 51 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGATGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377666 71377667 71377667 exon 1 0.01234568 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGATGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant 60 23 1 1 1 4167 445 0.9977459 0.9951479 0.9964469 0.996706 0.9971655 0.9903977 0.9791276 0.003293987 0.002834502 0.007348204 0.01602036 0.9969358 0.9847626 0.003064244 0.01168428 0.008620038 FALSE FALSE 1 2.587 . missense_variant&splice_region_variant MODERATE CALB2 HGNC 1435 ENST00000562305 4/10 rs567321690 1 deleterious(0.01) probably_damaging(0.947) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GCT C,A 8.236e-06 16:71377667 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 missense_variant 5.968263 0.9831 0.88436 0.615465 0.9959267 0 0.001238901 FALSE NA ENSE00002238703_013 ENSE00002238703 013 16 71411520 71411689 + 50 81 39 G C 71411572 2602 53 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTCGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377668 71377669 71377669 exon 3 0.03703704 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTCGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 1052 318 1 1 1 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 0.02087242 0.9969358 0.9847626 NA 0.01523737 NA FALSE NA 1 4.567 rs150938838 splice_region_variant&synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 4/10 rs150938838 1 NA C:0 C:0.0001 TGG G,C 8.236e-06 16:71377669 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 splice_region_variant 1.861453 0.98771 0.92805 0.615465 0.9240419 0 0.001238901 FALSE 4.06689e-06 ENSE00002238703_014 ENSE00002238703 014 16 71411520 71411689 + 50 81 39 G C 71411573 2603 54 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGCCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377669 71377670 71377670 exon 4 0.04938272 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGCCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant 12 41 1 0.9985915 0.9992957 355 58 0.998952 1 0.999476 0.996706 0.9971655 0.9903977 0.9791276 0.003293987 0.001425985 0.008554307 0.02087242 0.9969358 0.9847626 0.002359986 0.01471336 0.01235338 FALSE FALSE 1 8.623 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71377670 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 missense_variant 6.518309 0.99312 0.97942 0.615465 0.9977153 0 0.001238901 FALSE 4.06636e-06 ENSE00002238703_015 ENSE00002238703 015 16 71411520 71411689 + 50 81 39 G A 71411573 2604 54 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGACGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377669 71377670 71377670 exon 4 0.04938272 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGACGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant 10 24 1 1 1 NA NA NA NA NA 0.996706 0.9971655 0.9903977 0.9791276 0.003293987 0.002834502 NA NA 0.9969358 0.9847626 0.003064244 NA NA NA FALSE 1 8.623 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002517469 missense_variant 6.679694 0.99282 0.97432 0.615465 0.9991889 0 0.001238901 FALSE 8.13273e-06 ENSE00002238703_016 ENSE00002238703 016 16 71411520 71411689 + 50 81 39 G A 71411575 2605 56 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCACAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377671 71377672 71377672 exon 6 0.07407407 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCACAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 124 19 1 0.9566938 0.9783469 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 -0.02243381 0.9969358 0.9847626 NA -0.006415741 NA FALSE NA 0.001 -1.661 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 4/10 rs201815729 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 8.236e-06 16:71377672 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 synonymous_variant 1.711408 0.53217 0.03437 0.615465 0.710201 0 0.001238901 FALSE 1.62686e-05 ENSE00002238703_017 ENSE00002238703 017 16 71411520 71411689 + 50 81 39 G A 71411578 2606 59 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAAATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377674 71377675 71377675 exon 9 0.1111111 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAAATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant 10 10 0.9947843 1 0.9973921 401 20 0.9989692 1 0.9994846 0.996706 0.9971655 0.9903977 0.9791276 -0.001921729 0.002834502 0.008571516 0.02087242 0.9969358 0.9847626 0.0004563863 0.01472197 0.01426558 FALSE FALSE 1 3.92 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71377675 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 synonymous_variant 0.901055 0.9874 0.8933 0.615465 0.7206976 0 0.001238901 FALSE 4.06531e-06 ENSE00002238703_019 ENSE00002238703 019 16 71411520 71411689 + 50 81 39 A G 71411587 2608 68 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCGACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377683 71377684 71377684 exon 18 0.2222222 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCGACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 342 385 0.9973222 1 0.9986611 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.006924567 0.02087242 0.9969358 0.9847626 NA 0.01389849 NA FALSE NA 0 -3.198 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 4/10 1 NA CAA A,G 8.236e-06 16:71377684 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 synonymous_variant 0.221654 0.48495 0.01576 0.615465 0.5876695 0 0.001238901 FALSE 4.06372e-06 ENSE00002238703_020 ENSE00002238703 020 16 71411520 71411689 + 50 81 39 C T 71411590 2609 71 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACTGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377686 71377687 71377687 exon 21 0.2592593 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACTGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 133 173 1 1 1 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 0.02087242 0.9969358 0.9847626 NA 0.01523737 NA FALSE NA 0 -3.764 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71377687 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 synonymous_variant 1.810619 0.09633 0.00806 0.615465 0.797043 0 0.001238901 FALSE 1.21917e-05 ENSE00002238703_021 ENSE00002238703 021 16 71411520 71411689 + 50 81 39 C G 71411590 2610 71 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACGGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377686 71377687 71377687 exon 21 0.2592593 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACGGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 330 279 1 0.9730481 0.986524 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 -0.006079491 0.9969358 0.9847626 NA 0.001761419 NA FALSE NA 0 -3.764 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00002517469 synonymous_variant 1.374728 0.10366 0.01521 0.615465 0.7012857 0 0.454891 FALSE NA ENSE00002238703_022 ENSE00002238703 022 16 71411520 71411689 + 50 81 39 C A 71411590 2611 71 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACAGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377686 71377687 71377687 exon 21 0.2592593 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACAGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 304 191 0.9951634 0.913231 0.9541972 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.004765766 -0.06589663 0.9969358 0.9847626 NA -0.03056543 NA FALSE NA 0 -3.764 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002517469 synonymous_variant 2.423822 0.09779 0.01024 0.615465 0.7673786 0 0.001238901 FALSE 1.21917e-05 ENSE00002238703_026 ENSE00002238703 026 16 71411520 71411689 + 50 81 39 G T 71411620 2615 101 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCATCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377716 71377717 71377717 exon -31 0.6296296 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCATCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 88 400 1 0.9991391 0.9995695 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 0.02001152 0.9969358 0.9847626 NA 0.01480692 NA FALSE NA 1 3.902 rs141424820 missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 4/10 rs141424820 1 deleterious(0.01) benign(0.253) NA T:0.0005 T:0 AGC G,T 8.236e-06 16:71377717 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 missense_variant 2.736541 0.98335 0.91516 0.615465 0.9972652 0 0.001238901 FALSE NA ENSE00002238703_029 ENSE00002238703 029 16 71411520 71411689 + 50 81 39 G A 71411624 2618 105 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACATGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377720 71377721 71377721 exon -27 0.6790123 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACATGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 44 138 0.9964987 1 0.9982494 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.006101054 0.02087242 0.9969358 0.9847626 NA 0.01348674 NA FALSE NA 1 8.623 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 4/10 COSM3787214 1 deleterious(0.02) possibly_damaging(0.475) NA CGT G,A 8.236e-06 16:71377721 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 missense_variant 5.182976 0.99282 0.97432 0.615465 0.9990006 0 0.001238901 FALSE NA ENSE00002238703_032 ENSE00002238703 032 16 71411520 71411689 + 50 81 39 G A 71411636 2621 117 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCACCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377732 71377733 71377733 exon -15 0.8271605 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCACCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 481 57 0.9971202 1 0.9985601 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.006722501 0.02087242 0.9969358 0.9847626 NA 0.01379746 NA FALSE NA 0.713 0.204 rs11545954 missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 4/10 rs11545954 1 tolerated(0.26) benign(0.009) A:0.1378 A:0.1861 A:0.1052 NA A:0.0298 A:0.1292 A:0.2157 A:0.1708 A:0.1299 CGC G,A 0.125 16:71377733 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 missense_variant 2.964451 0.95868 0.44675 0.615465 0.9494112 0 0.001238901 FALSE 0.121404 ENSE00002238703_033 ENSE00002238703 033 16 71411520 71411689 + 50 81 39 C T 71411638 2622 119 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCTGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377734 71377735 71377735 exon -13 0.8518519 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCTGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 979 162 0.9980074 1 0.9990037 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.007609711 0.02087242 0.9969358 0.9847626 NA 0.01424106 NA FALSE NA 0 -4.744 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71377735 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 synonymous_variant 2.227856 0.16106 0.00911 0.615465 0.7302517 0 0.001238901 FALSE 7.71912e-05 ENSE00002238703_034 ENSE00002238703 034 16 71411520 71411689 + 50 81 39 C A 71411638 2623 119 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCAGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377734 71377735 71377735 exon -13 0.8518519 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCAGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 1631 665 0.861387 0.9983813 0.9298842 0.996706 0.9971655 0.9903977 0.9791276 NA NA -0.1290106 0.01925375 0.9969358 0.9847626 NA -0.05487844 NA FALSE NA 0 -4.744 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002517469 synonymous_variant 2.388324 0.16838 0.01434 0.615465 0.6786355 0 0.001238901 FALSE 4.0627e-06 ENSE00002238703_035 ENSE00002238703 035 16 71411520 71411689 + 50 81 39 G A 71411639 2624 120 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCAAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377735 71377736 71377736 exon -12 0.8641975 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCAAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant 40 13 0.998851 1 0.9994255 275 515 1 0.9996187 0.9998093 0.996706 0.9971655 0.9903977 0.9791276 0.002144941 0.002834502 0.009602329 0.0204911 0.9969358 0.9847626 0.002489721 0.01504671 0.01255699 FALSE FALSE 1 8.623 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 4/10 1 deleterious(0) possibly_damaging(0.881) NA CGA G,A 2.471e-05 16:71377736 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 missense_variant 7.455927 0.99282 0.97432 0.615465 0.9988965 0 0.001238901 FALSE 1.21886e-05 ENSE00002238703_036 ENSE00002238703 036 16 71411520 71411689 + 50 81 39 T A 71411643 2625 124 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTATATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377739 71377740 71377740 exon -8 0.9135802 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTATATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 387 126 0.8861741 1 0.943087 0.996706 0.9971655 0.9903977 0.9791276 NA NA -0.1042236 0.02087242 0.9969358 0.9847626 NA -0.0416756 NA FALSE NA 1 7.054 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 4/10 rs375481271 1 deleterious(0) benign(0.298) NA A:0.0002 A:0 TTT T,A 8.236e-06 16:71377740 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 missense_variant 6.297896 0.99053 0.95824 0.615465 0.9954317 0 0.001238901 FALSE 8.12731e-06 ENSE00002238703_037 ENSE00002238703 037 16 71411520 71411689 + 50 81 39 T C 71411644 2626 125 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTCATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377740 71377741 71377741 exon -7 0.9259259 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTCATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 75 28 1 1 1 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 0.02087242 0.9969358 0.9847626 NA 0.01523737 NA FALSE NA 0.991 0.313 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 4/10 1 NA TTA T,C 2.471e-05 16:71377741 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 synonymous_variant 0.225292 0.95726 0.40189 0.615465 0.6414743 0 0.001238901 FALSE 2.84419e-05 ENSE00002238703_040 ENSE00002238703 040 16 71411520 71411689 + 50 81 39 C A 71411665 2629 146 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCAACACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377761 71377762 71377762 downstr_intron 15 1.394737 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCAACACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 185 164 1 0.9916991 0.9958496 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009602329 0.01257156 0.9969358 0.9847626 NA 0.01108694 NA FALSE NA 0 0.365 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71377762 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant -0.020915 0.27975 0.09357 0.078448 0.4994349 0.132124 0.001238901 FALSE 4.07146e-06 ENSE00002238703_041 ENSE00002238703 041 16 71411520 71411689 + 50 81 39 C T 71411665 2630 146 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCATCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 71377761 71377762 71377762 downstr_intron 15 1.394737 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCATCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 544 29 0.910562 1 0.955281 0.996706 0.9971655 0.9903977 0.9791276 NA NA -0.07983562 0.02087242 0.9969358 0.9847626 NA -0.0294816 NA FALSE NA 0 0.365 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002517469 intron_variant -0.009336 0.24737 0.01604 0.078448 0.4693318 0.132124 0.001238901 FALSE 4.07146e-06 ENSE00002238703_042 ENSE00002238703 042 16 71411520 71411689 + 50 81 39 T G 71411670 2631 151 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCGTCTTTCTAAGCACTGGGAC 71377616 71377786 71377766 71377767 71377767 downstr_intron 20 1.526316 CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCGTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC mutant NA NA NA NA NA 283 76 0.9998545 1 0.9999272 0.996706 0.9971655 0.9903977 0.9791276 NA NA 0.009456821 0.02087242 0.9969358 0.9847626 NA 0.01516462 NA FALSE NA 0.182 1.854 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 4/9 1 NA CTT T,G 8.236e-06 16:71377767 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002517469 intron_variant -0.066175 0.4651 0.23826 0.078448 0.5370197 0.132124 0.001238901 FALSE 4.07505e-06 ENSE00002238703_BRK ENSE00002238703 BRK 16 71411520 71411689 + 50 81 39 A,G; T,T NA NA NA CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACTTCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGCCGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC 71377616 71377786 NA NA NA NA NA NA CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACTTCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGCCGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC CCCTGTCAAGTCCCTCCATAACGTTAGTGTCGCTCTCTGTATCTTCACAGCTGGCGCAGATCCTGCCAACCGAAGAGAACTTCCTTCTGTGCTTCAGGCAGCACGTGGGCTCCAGCGCCGAGTTTATGGAGGTGAGGCCAAGGCACCACCTTCTTTCTAAGCACTGGGAC control 138 13 0 0 0 NA NA NA NA NA 0.996706 0.9971655 0.9903977 0.9791276 -0.996706 -0.9971655 NA NA 0.9969358 0.9847626 -0.9969358 NA NA NA TRUE NA NA NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002517469 NA NA NA NA NA NA NA 0.001238901 FALSE NA ENSE00002239615_000 ENSE00002239615 000 19 54650275 54650444 + 62 57 51 NA NA NA NA NA AAGCAACAGAGGAGTGAATGGCGTGCCCACCCGGTCCAGGCTCACACCCACCTGGCTGACTTCACTGTCTGTGGAACGTCCCCTCTTCTTATCATCTTCAGAGTTTTCCTGAGGTAGGGGAGGCAGAATAGAAACCTGTGTGACCTCTGGGGCTCTGATGGAGAACCGCC 54146538 54146708 NA NA NA NA NA NA GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT natural 1384 1604 0.8424383 0.8513432 0.8468907 1329 1051 0.8522358 0.8981005 0.8751681 0.8424383 0.8513432 0.8522358 0.8981005 0 0 0 0 0.8468907 0.8751681 0 0 0 FALSE FALSE NA NA NA NA NA CNOT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNOT3 NA NA NA ENSG00000088038 ENSE00003579808 NA NA NA NA NA NA NA 0.9999672 TRUE NA ENSE00002239615_001 ENSE00002239615 001 19 54650275 54650444 + 62 57 51 A G 54650286 3185 12 GGCGGTTCTCCGTCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT 54146538 54146708 54146549 54146550 54146550 upstr_intron -51 -0.8064516 GGCGGTTCTCCGTCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT mutant NA NA NA NA NA 89 232 0.9617283 0.8377051 0.8997167 0.8424383 0.8513432 0.8522358 0.8981005 NA NA 0.1094925 -0.06039537 0.8468907 0.8751681 NA 0.02454857 NA FALSE NA 0 -1.291 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000457463 1 NA CAT A,G 8.236e-06 19:54146550 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003579808 intron_variant 0.204771 0.0811 0.00417 0.256867 0.5958291 0.111755 0.9999672 TRUE 1.2284e-05 ENSE00002239615_008 ENSE00002239615 008 19 54650275 54650444 + 62 57 51 A G 54650339 3192 65 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAGAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT 54146538 54146708 54146602 54146603 54146603 exon 3 0.05263158 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAGAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT mutant NA NA NA NA NA 847 334 0.9453655 0.8004323 0.8728989 0.8424383 0.8513432 0.8522358 0.8981005 NA NA 0.09312968 -0.09766813 0.8468907 0.8751681 NA -0.002269226 NA FALSE NA 1 2.012 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000457463 1 NA AAA A,G 8.236e-06 19:54146603 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003579808 splice_region_variant 1.522023 0.89455 0.5597 0.706548 0.7705598 0 0.9999672 TRUE 8.12183e-06 ENSE00002239615_009 ENSE00002239615 009 19 54650275 54650444 + 62 57 51 C T 54650344 3193 70 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTTTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT 54146538 54146708 54146607 54146608 54146608 exon 8 0.1403509 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTTTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT mutant NA NA NA NA NA 160 186 0.8 0.821073 0.8105365 0.8424383 0.8513432 0.8522358 0.8981005 NA NA -0.05223579 -0.07702741 0.8468907 0.8751681 NA -0.0646316 NA FALSE NA 1 4.966 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000457463 1 NA TCT C,T 2.471e-05 19:54146608 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003579808 missense_variant 6.712074 0.94511 0.9382 0.706548 0.9979787 0 0.9999672 TRUE 2.03044e-05 ENSE00002239615_014 ENSE00002239615 014 19 54650275 54650444 + 62 57 51 G A 54650400 3198 126 AAGCAACAGAGGAGTGAATGGCGTGCCCACCCGGTCCAGGCTCATACCCACCTGGCTGACTTCACTGTCTGTGGAACGTCCCCTCTTCTTATCATCTTCAGAGTTTTCCTGAGGTAGGGGAGGCAGAATAGAAACCTGTGTGACCTCTGGGGCTCTGATGGAGAACCGCC 54146538 54146708 54146663 54146664 54146664 downstr_intron 7 1.14 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTATGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT mutant NA NA NA NA NA 33 329 0.9811242 0.9742732 0.9776987 0.8424383 0.8513432 0.8522358 0.8981005 NA NA 0.1288884 0.07617277 0.8468907 0.8751681 NA 0.1025306 NA FALSE NA 0 -1.748 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000457463 1 NA TGT G,A 8.236e-06 19:54146664 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003579808 splice_region_variant 0.023769 0.22524 0.05102 0.099367 0.6888799 0.198412 0.9999672 TRUE 4.06101e-06 ENSE00002239615_015 ENSE00002239615 015 19 54650275 54650444 + 62 57 51 C T 54650412 3199 138 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACTGGGTGGGCACGCCATTCACTCCTCTGTTGCTT 54146538 54146708 54146675 54146676 54146676 downstr_intron 19 1.38 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACTGGGTGGGCACGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT mutant NA NA NA NA NA 803 200 0.8223141 0.8305603 0.8264372 0.8424383 0.8513432 0.8522358 0.8981005 NA NA -0.02992172 -0.06754014 0.8468907 0.8751681 NA -0.04873093 NA FALSE NA 0 -3.557 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000457463 1 NA CCG C,T 0.0001318 19:54146676 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003579808 intron_variant -0.383191 0.09095 0.01294 0.115753 0.4120586 0.0489232 0.9999672 TRUE 0.00010972 ENSE00002239615_016 ENSE00002239615 016 19 54650275 54650444 + 62 57 51 G A 54650413 3200 139 AAGCAACAGAGGAGTGAATGGCGTGCCCACCTGGTCCAGGCTCACACCCACCTGGCTGACTTCACTGTCTGTGGAACGTCCCCTCTTCTTATCATCTTCAGAGTTTTCCTGAGGTAGGGGAGGCAGAATAGAAACCTGTGTGACCTCTGGGGCTCTGATGGAGAACCGCC 54146538 54146708 54146676 54146677 54146677 downstr_intron 20 1.4 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCAGGTGGGCACGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT mutant NA NA NA NA NA 163 40 0.9391048 0.9383461 0.9387255 0.8424383 0.8513432 0.8522358 0.8981005 NA NA 0.08686902 0.04024569 0.8468907 0.8751681 NA 0.06355736 NA FALSE NA 0 -2.002 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000457463 1 NA CGG G,A 1.647e-05 19:54146677 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003579808 intron_variant -0.085899 0.21406 0.04033 0.115753 0.3200052 0.0489232 0.9999672 TRUE 1.62569e-05 ENSE00002239615_018 ENSE00002239615 018 19 54650275 54650444 + 62 57 51 C T 54650422 3202 148 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCATGCCATTCACTCCTCTGTTGCTT 54146538 54146708 54146685 54146686 54146686 downstr_intron 29 1.58 GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCATGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT mutant NA NA NA NA NA 130 190 0.9235406 0.9134281 0.9184843 0.8424383 0.8513432 0.8522358 0.8981005 NA NA 0.07130484 0.01532761 0.8468907 0.8751681 NA 0.04331622 NA FALSE NA 0 -0.469 . upstream_gene_variant MODIFIER CNOT3 HGNC 7879 ENST00000457463 1 NA ACG C,T 8.236e-06 19:54146686 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003579808 intron_variant -0.01346 0.1236 0.00751 0.115753 0.5246608 0.0489232 0.9999672 TRUE 2.03249e-05 ENSE00002239615_BRK ENSE00002239615 BRK 19 54650275 54650444 + 62 57 51 A,G; T,T NA NA NA GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCTTGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGCCGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT 54146538 54146708 NA NA NA NA NA NA GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCTTGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGCCGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT GGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTT control 18 68 0 0 0 NA NA NA NA NA 0.8424383 0.8513432 0.8522358 0.8981005 -0.8424383 -0.8513432 NA NA 0.8468907 0.8751681 -0.8468907 NA NA NA TRUE NA NA NA NA NA CNOT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNOT3 NA NA NA ENSG00000088038 ENSE00003579808 NA NA NA NA NA NA NA 0.9999672 TRUE NA ENSE00002239809_000 ENSE00002239809 000 19 38709178 38709347 - 35 90 45 NA NA NA NA NA AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC 38218537 38218707 NA NA NA NA NA NA AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC natural 25 23 0.9947843 0.992358 0.9935712 886 1576 0.9406244 0.9975088 0.9690666 0.9947843 0.992358 0.9406244 0.9975088 0 0 0 0 0.9935712 0.9690666 0 0 0 FALSE FALSE NA NA NA NA NA DPF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DPF1 NA NA NA ENSG00000011332 ENSE00003487361 NA NA NA NA NA NA NA 0.988986 TRUE NA ENSE00002239809_005 ENSE00002239809 005 19 38709178 38709347 - 35 90 45 T C 38709250 2226 98 AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGGTGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC 38218537 38218707 38218609 38218610 38218610 exon -38 0.5888889 AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGGTGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC mutant NA NA NA NA NA 55 42 1 1 1 0.9947843 0.992358 0.9406244 0.9975088 NA NA 0.05937557 0.002491219 0.9935712 0.9690666 NA 0.0309334 NA FALSE NA 1 2.468 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DPF1 HGNC 20225 ENST00000471976 5/11 rs375239664 1 NA C:0 C:0.0001 ATC T,C 8.236e-06 19:38218610 DPF1 HGNC Symbol protein_coding 18708 ENSG00000011332 ENSE00003487361 missense_variant 2.401458 0.9676 0.86367 0.626454 0.992715 0 0.988986 TRUE 4.06068e-06 ENSE00002239809_006 ENSE00002239809 006 19 38709178 38709347 - 35 90 45 C A 38709267 2227 81 AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGATGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC 38218537 38218707 38218626 38218627 38218627 exon 36 0.4 AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGATGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC mutant NA NA NA NA NA 90 340 0.994859 0.9990995 0.9969792 0.9947843 0.992358 0.9406244 0.9975088 NA NA 0.05423455 0.001590707 0.9935712 0.9690666 NA 0.02791263 NA FALSE NA 0.855 0.057 NA NA NA DPF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:38218627 DPF1 HGNC Symbol protein_coding 18708 ENSG00000011332 ENSE00003487361 missense_variant 1.454707 0.95315 0.46653 0.626454 0.391272 0 0.988986 TRUE 6.49699e-05 ENSE00002239809_010 ENSE00002239809 010 19 38709178 38709347 - 35 90 45 C T 38709279 2231 69 GGGGAGCGGGGAAGAGGAGAAGCTTGGGGTGATACCTTTCCTTTGGCCCTGTTCTTCCTCCTGGGAATGTCATCCTCCAAGTCTTCCACCTCGAGGTCATGTGGAAACTCCAGCAACTGCTGTTTCTGGGCAATAGAGAAAGGAGACGGGTCAAGAAAGTGGGGGCCACT 38218537 38218707 38218638 38218639 38218639 exon 24 0.2666667 AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCACATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC mutant NA NA NA NA NA 513 122 0.9979197 0.9987014 0.9983106 0.9947843 0.992358 0.9406244 0.9975088 NA NA 0.05729527 0.001192668 0.9935712 0.9690666 NA 0.02924397 NA FALSE NA 0 -3.43 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DPF1 HGNC 20225 ENST00000471976 5/11 1 NA GCG C,T 2.471e-05 19:38218639 DPF1 HGNC Symbol protein_coding 18708 ENSG00000011332 ENSE00003487361 synonymous_variant 2.242603 0.92265 0.01602 0.706298 0.6110203 0 0.988986 TRUE 1.62423e-05 ENSE00002239809_013 ENSE00002239809 013 19 38709178 38709347 - 35 90 45 G A 38709326 2234 22 AGTGGCCCCCACTTTCTTGACTCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC 38218537 38218707 38218685 38218686 38218686 upstr_intron -24 -0.5111111 AGTGGCCCCCACTTTCTTGACTCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC mutant NA NA NA NA NA 236 727 0.9978885 0.8339763 0.9159324 0.9947843 0.992358 0.9406244 0.9975088 NA NA 0.05726404 -0.1635325 0.9935712 0.9690666 NA -0.05313425 NA FALSE NA 0.969 0.906 . intron_variant&non_coding_transcript_variant MODIFIER DPF1 HGNC 20225 ENST00000471976 4/10 1 NA GGG G,A 8.236e-06 19:38218686 DPF1 HGNC Symbol protein_coding 18708 ENSG00000011332 ENSE00003487361 intron_variant 0.187046 0.21269 0.09041 0.078448 0.6034957 0.100248 0.988986 TRUE 8.12559e-06 ENSE00002239809_014 ENSE00002239809 014 19 38709178 38709347 - 35 90 45 A T 38709335 2235 13 GGGGAGCGGGGAAGAGGAGAAGCTTGGGGTGATACCTTTCCTTTGGCCCTGTTCTTCCTCCTGGGAATGTCATCCTCCAAGTCTTCCACCTCGAGGTCATGCGGAAACTCCAGCAACTGCTGTTTCTGGGCAATAGAGAAAGGAGACGGGTCAAGAATGTGGGGGCCACT 38218537 38218707 38218694 38218695 38218695 upstr_intron -33 -0.7111111 AGTGGCCCCCACATTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC AGTGGCCCCCACTTTCTTGACCCGTCTCCTTTCTCTATTGCCCAGAAACAGCAGTTGCTGGAGTTTCCGCATGACCTCGAGGTGGAAGACTTGGAGGATGACATTCCCAGGAGGAAGAACAGGGCCAAAGGAAAGGTATCACCCCAAGCTTCTCCTCTTCCCCGCTCCCC mutant NA NA NA NA NA 13 1586 1 0.9977125 0.9988562 0.9947843 0.992358 0.9406244 0.9975088 NA NA 0.05937557 0.0002036738 0.9935712 0.9690666 NA 0.02978962 NA FALSE NA 0 0.868 . intron_variant&non_coding_transcript_variant MODIFIER DPF1 HGNC 20225 ENST00000471976 4/10 1 NA AAG A,T 3.295e-05 19:38218695 DPF1 HGNC Symbol protein_coding 18708 ENSG00000011332 ENSE00003487361 intron_variant -0.118082 0.14675 0.05454 0.078448 0.4222226 0.100248 0.988986 TRUE 4.0654e-05 ENSE00002242398_000 ENSE00002242398 000 12 123058788 123058957 + 41 99 30 NA NA NA NA NA TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC 122574240 122574410 NA NA NA NA NA NA TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC natural NA NA NA NA NA 1722 1189 0.9773798 0.9583607 0.9678702 NA NA 0.9773798 0.9583607 NA NA 0 0 NA 0.9678702 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNTC1 NA NA NA ENSG00000184445 ENSE00002242398 NA NA NA NA NA NA NA 4.77718e-32 FALSE NA ENSE00002242398_001 ENSE00002242398 001 12 123058788 123058957 + 41 99 30 A G 123058811 3765 24 TTTTTAATTTTTAAAAAACATACGTGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC 122574240 122574410 122574263 122574264 122574264 upstr_intron -18 -0.4146341 TTTTTAATTTTTAAAAAACATACGTGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC mutant NA NA NA NA NA 59 65 0.9920656 0.9994124 0.995739 NA NA 0.9773798 0.9583607 NA NA 0.01468581 0.04105167 NA 0.9678702 NA 0.02786874 NA FALSE NA 0 -1.529 NA NA NA KNTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:122574264 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00002242398 intron_variant 0.41834 0.21678 0.02148 0.156188 0.7634489 0.0925753 4.77718e-32 FALSE 0.000321142 ENSE00002242398_003 ENSE00002242398 003 12 123058788 123058957 + 41 99 30 A G 123058817 3767 30 TTTTTAATTTTTAAAAAACATACATGTTTGTCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC 122574240 122574410 122574269 122574270 122574270 upstr_intron -12 -0.2682927 TTTTTAATTTTTAAAAAACATACATGTTTGTCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC mutant NA NA NA NA NA 87 122 0.9816258 0.9742764 0.9779511 NA NA 0.9773798 0.9583607 NA NA 0.004246002 0.01591568 NA 0.9678702 NA 0.01008084 NA FALSE NA 0.038 0.205 . intron_variant MODIFIER KNTC1 HGNC 17255 ENST00000450485 25/38 1 NA TAT A,G 1.656e-05 12:122574270 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00002242398 intron_variant 1.792225 0.25826 0.09767 0.156188 0.8659419 0.207173 4.77718e-32 FALSE 8.64484e-06 ENSE00002242398_007 ENSE00002242398 007 12 123058788 123058957 + 41 99 30 T C 123058844 3771 57 TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGACGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC 122574240 122574410 122574296 122574297 122574297 exon 16 0.1616162 TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGACGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC mutant NA NA NA NA NA 129 64 0.9662767 1 0.9831384 NA NA 0.9773798 0.9583607 NA NA -0.01110311 0.04163931 NA 0.9678702 NA 0.0152681 NA FALSE NA 1 7.819 . missense_variant MODERATE KNTC1 HGNC 17255 ENST00000450485 26/39 1 deleterious(0.01) probably_damaging(0.953) NA ATG T,C 8.275e-06 12:122574297 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00002242398 missense_variant 6.075945 0.99476 0.99164 0.706548 0.9596207 0 4.77718e-32 FALSE 4.12521e-06 ENSE00002242398_011 ENSE00002242398 011 12 123058788 123058957 + 41 99 30 G C 123058901 3775 114 TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCACTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC 122574240 122574410 122574353 122574354 122574354 exon -27 0.7373737 TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCACTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC mutant NA NA NA NA NA 62 865 0.8231412 0.8 0.8115706 NA NA 0.9773798 0.9583607 NA NA -0.1542386 -0.1583607 NA 0.9678702 NA -0.1562996 NA FALSE NA 1 5.513 . missense_variant MODERATE KNTC1 HGNC 17255 ENST00000450485 26/39 1 deleterious(0) benign(0.402) NA AGT G,C 8.274e-06 12:122574354 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00002242398 missense_variant 3.627367 0.9854 0.9854 0.706548 0.844751 0 4.77718e-32 FALSE 4.1111e-06 ENSE00002242398_012 ENSE00002242398 012 12 123058788 123058957 + 41 99 30 C T 123058908 3776 121 TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGTGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC 122574240 122574410 122574360 122574361 122574361 exon -20 0.8080808 TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGTGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC mutant NA NA NA NA NA 35 34 0.95 0.9659735 0.9579868 NA NA 0.9773798 0.9583607 NA NA -0.02737981 0.007612861 NA 0.9678702 NA -0.009883475 NA FALSE NA 0.907 2.857 . missense_variant MODERATE KNTC1 HGNC 17255 ENST00000450485 26/39 1 deleterious(0) possibly_damaging(0.58) NA GCG C,T 1.655e-05 12:122574361 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00002242398 missense_variant 2.160416 0.43902 0.70523 0.706548 0.9036793 0 4.77718e-32 FALSE 8.27048e-06 ENSE00002242398_014 ENSE00002242398 014 12 123058788 123058957 + 41 99 30 C T 123058923 3778 136 TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACATGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC 122574240 122574410 122574375 122574376 122574376 exon -5 0.959596 TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACATGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC TTTTTAATTTTTAAAAAACATACATGTTTATCCCTTTTTAGGATTTACTGAATAGATGCAGCTCAAAGTCCACATCACTCTTTGAAACAGCATGGGAAGCAAAGGCCATGGCAGTAATAGCGTGTTTATCTGACACGGACGTAAGTAAATAGTGACCATTTGCGTTTCCC mutant NA NA NA NA NA 22 225 0.95 0.9566559 0.9533279 NA NA 0.9773798 0.9583607 NA NA -0.02737981 -0.001704804 NA 0.9678702 NA -0.01454231 NA FALSE NA 0.96 2.04 . missense_variant MODERATE KNTC1 HGNC 17255 ENST00000450485 26/39 rs201148456 1 deleterious(0.04) probably_damaging(0.964) NA T:0.0003 T:0.0001 ACG C,T 0.0001158 12:122574376 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00002242398 missense_variant 4.429714 0.99008 0.95084 0.706548 0.9986034 0 4.77718e-32 FALSE 7.24261e-05 ENSE00002244455_000 ENSE00002244455 000 22 47063939 47064108 + 54 72 44 NA NA NA NA NA TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 NA NA NA NA NA NA TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT natural NA NA NA NA NA 274 844 0.9597777 0.990766 0.9752718 NA NA 0.9597777 0.990766 NA NA 0 0 NA 0.9752718 NA 0 NA FALSE NA NA NA NA NA NA GRAMD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRAMD4 NA NA NA ENSG00000075240 ENSE00002244455 NA NA NA NA NA NA NA 0.9997914 TRUE NA ENSE00002244455_007 ENSE00002244455 007 22 47063939 47064108 + 54 72 44 C G 47063997 1389 59 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACGTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668099 46668100 46668100 exon 5 0.06944444 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACGTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 42 84 0.9688955 0.9919068 0.9804012 NA NA 0.9597777 0.990766 NA NA 0.00911785 0.001140839 NA 0.9752718 NA 0.005129344 NA FALSE NA 1 3.243 . missense_variant MODERATE GRAMD4 HGNC 29113 ENST00000456069 6/9 rs368967710 1 NA G:0.0002 G:0 CCT C,G 1.648e-05 22:46668100 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 missense_variant 4.026495 0.98051 0.94369 0.695654 0.929947 0 0.9997914 TRUE 8.15481e-06 ENSE00002244455_008 ENSE00002244455 008 22 47063939 47064108 + 54 72 44 C A 47064010 1390 72 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGAACTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668112 46668113 46668113 exon 18 0.25 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGAACTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 57 146 1 0.9800562 0.9900281 NA NA 0.9597777 0.990766 NA NA 0.04022233 -0.01070981 NA 0.9752718 NA 0.01475626 NA FALSE NA 0.832 0.045 . missense_variant MODERATE GRAMD4 HGNC 29113 ENST00000456069 6/9 1 NA ACC C,A 6.594e-05 22:46668113 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 missense_variant 1.940893 0.96106 0.76842 0.695654 0.9487655 0 0.9997914 TRUE 5.70274e-05 ENSE00002244455_009 ENSE00002244455 009 22 47063939 47064108 + 54 72 44 G A 47064019 1391 81 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTATCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668121 46668122 46668122 exon 27 0.375 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTATCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 253 35 0.9917468 0.95 0.9708734 NA NA 0.9597777 0.990766 NA NA 0.03196912 -0.04076598 NA 0.9752718 NA -0.004398431 NA FALSE NA 1 1.376 . synonymous_variant LOW GRAMD4 HGNC 29113 ENST00000456069 6/9 1 NA TGT G,A 8.242e-06 22:46668122 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 synonymous_variant 0.870704 0.9644 0.83883 0.695654 0.6440929 0 0.9997914 TRUE 8.14617e-06 ENSE00002244455_010 ENSE00002244455 010 22 47063939 47064108 + 54 72 44 C T 47064041 1392 103 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGTTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668143 46668144 46668144 exon -24 0.6805556 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGTTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 280 23 0.9905623 1 0.9952812 NA NA 0.9597777 0.990766 NA NA 0.03078465 0.009234021 NA 0.9752718 NA 0.02000934 NA FALSE NA 1 4.072 . synonymous_variant LOW GRAMD4 HGNC 29113 ENST00000456069 6/9 1 NA GCT C,T 8.247e-06 22:46668144 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 synonymous_variant 0.344084 0.9834 0.9342 0.646311 0.4525858 0 0.9997914 TRUE 4.07584e-06 ENSE00002244455_011 ENSE00002244455 011 22 47063939 47064108 + 54 72 44 G A 47064047 1393 109 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACATCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668149 46668150 46668150 exon -18 0.7638889 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACATCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 460 305 0.957814 0.9544382 0.9561261 NA NA 0.9597777 0.990766 NA NA -0.001963655 -0.03632781 NA 0.9752718 NA -0.01914573 NA FALSE NA 1 8.649 . missense_variant MODERATE GRAMD4 HGNC 29113 ENST00000456069 6/9 1 NA CGT G,A 8.248e-06 22:46668150 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 missense_variant 3.756838 0.99018 0.98353 0.646311 0.9600439 0 0.9997914 TRUE 1.22367e-05 ENSE00002244455_013 ENSE00002244455 013 22 47063939 47064108 + 54 72 44 C G 47064049 1395 111 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTGGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668151 46668152 46668152 exon -16 0.7916667 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTGGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 299 1275 0 0.02235164 0.01117582 NA NA 0.9597777 0.990766 NA NA -0.9597777 -0.9684143 NA 0.9752718 NA -0.964096 NA TRUE NA 0.306 -0.695 NA NA NA GRAMD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:46668152 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 synonymous_variant 0.49622 0.56987 0.05535 0.646311 0.6350614 0 0.9997914 TRUE 8.15674e-06 ENSE00002244455_014 ENSE00002244455 014 22 47063939 47064108 + 54 72 44 G A 47064050 1396 112 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCACCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668152 46668153 46668153 exon -15 0.8055556 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCACCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 34 964 0.9416577 0.8111833 0.8764205 NA NA 0.9597777 0.990766 NA NA -0.01811995 -0.1795827 NA 0.9752718 NA -0.09885133 NA FALSE NA 1 8.649 rs113662863 missense_variant MODERATE GRAMD4 HGNC 29113 ENST00000456069 6/9 rs113662863&COSM1714498 1 NA CGC G,A 2.475e-05 22:46668153 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 missense_variant 5.091752 0.98275 0.97653 0.646311 0.9968185 0 0.9997914 TRUE 1.22461e-05 ENSE00002244455_018 ENSE00002244455 018 22 47063939 47064108 + 54 72 44 G A 47064075 1400 137 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACAGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668177 46668178 46668178 downstr_intron 11 1.255814 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACAGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 583 16 1 0.8 0.9 NA NA 0.9597777 0.990766 NA NA 0.04022233 -0.190766 NA 0.9752718 NA -0.07527182 NA FALSE NA 0.065 1.967 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:46668178 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 intron_variant 0.086903 0.14258 0.04268 0.099367 0.7670693 0.0480281 0.9997914 TRUE 0.021346 ENSE00002244455_019 ENSE00002244455 019 22 47063939 47064108 + 54 72 44 G C 47064075 1401 137 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACCGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668177 46668178 46668178 downstr_intron 11 1.255814 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACCGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 191 266 1 1 1 NA NA 0.9597777 0.990766 NA NA 0.04022233 0.009234021 NA 0.9752718 NA 0.02472818 NA FALSE NA 0.065 1.967 NA NA NA GRAMD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRAMD4 NA NA NA ENSG00000075240 ENSE00002244455 intron_variant -0.255673 0.13738 0.28791 0.099367 0.6456682 0.0480281 0.9997914 TRUE 8.25287e-06 ENSE00002244455_020 ENSE00002244455 020 22 47063939 47064108 + 54 72 44 G A 47064079 1402 141 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCACCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668181 46668182 46668182 downstr_intron 15 1.348837 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCACCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 347 369 0.9690952 0.9698699 0.9694825 NA NA 0.9597777 0.990766 NA NA 0.009317505 -0.02089611 NA 0.9752718 NA -0.005789303 NA FALSE NA 0 -0.761 . intron_variant MODIFIER GRAMD4 HGNC 29113 ENST00000456069 6/8 1 NA CGC N,A 8.276e-06 22:46668182 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 intron_variant -0.136967 0.04561 0.00149 0.099367 0.8041179 0.0485936 0.9997914 TRUE 1.24905e-05 ENSE00002244455_021 ENSE00002244455 021 22 47063939 47064108 + 54 72 44 C T 47064081 1403 143 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCTGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 46668183 46668184 46668184 downstr_intron 17 1.395349 TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCTGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT mutant NA NA NA NA NA 1126 1217 0.9889441 0.9905597 0.9897519 NA NA 0.9597777 0.990766 NA NA 0.02916647 -0.0002062509 NA 0.9752718 NA 0.01448011 NA FALSE NA 0 -1.026 . intron_variant MODIFIER GRAMD4 HGNC 29113 ENST00000456069 6/8 rs370234312 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0014 T:0 CCG C,T 8.278e-05 22:46668184 GRAMD4 HGNC Symbol protein_coding 103778 ENSG00000075240 ENSE00002244455 intron_variant 0.433175 0.11655 0.01827 0.099367 0.8198115 0.0485936 0.9997914 TRUE 5.41667e-05 ENSE00002244455_BRK ENSE00002244455 BRK 22 47063939 47064108 + 54 72 44 A,G; T,T NA NA NA TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGATTGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGCCACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT 46668041 46668211 NA NA NA NA NA NA TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGATTGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGCCACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT TTTTTCTGAACTGTTAAATTTCAGTGGAAAATTCTCTTTCCCCTTTTACTGAAGGAACCTCCAAAGGAAGACCTGACTGTGTCTGAGAAGTTCCAGCTGGTGCTGGACGTCGCCCAGAAAGCCCAGGTACTGCCACGGGCGCCGGCCAGGGGTGTGTCTGCGCCAGCCAT control 27 57 0 0.1189763 0.05948817 NA NA NA NA NA NA NA 0.9597777 0.990766 NA NA NA NA NA 0.9752718 NA NA NA NA NA NA NA NA NA NA GRAMD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRAMD4 NA NA NA ENSG00000075240 ENSE00002244455 NA NA NA NA NA NA NA 0.9997914 TRUE NA ENSE00002249647_000 ENSE00002249647 000 2 238263480 238263649 - 62 36 72 NA NA NA NA NA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 NA NA NA NA NA NA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA natural 53 71 0.9984067 0.9736747 0.9860407 117 196 0.99737 0.9445716 0.9709708 0.9984067 0.9736747 0.99737 0.9445716 0 0 0 0 0.9860407 0.9709708 0 0 0 FALSE FALSE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00002249647 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002249647_003 ENSE00002249647 003 2 238263480 238263649 - 62 36 72 T A 238263505 5690 145 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCTAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354861 237354862 237354862 downstr_intron 37 1.606557 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCTAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 94 121 0.9911183 0.9996849 0.9954016 0.9984067 0.9736747 0.99737 0.9445716 NA NA -0.006251749 0.05511328 0.9860407 0.9709708 NA 0.02443077 NA FALSE NA 0 -1.595 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 23/42 rs371329160 1 NA A:0 A:0.0001 TTG T,A 8.237e-06 2:237354862 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 intron_variant -0.075735 0.09796 0.01322 0.053691 0.7727823 0.0655998 7.793308e-11 FALSE 4.15027e-06 ENSE00002249647_004 ENSE00002249647 004 2 238263480 238263649 - 62 36 72 G A 238263509 5691 141 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTTTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354865 237354866 237354866 downstr_intron 33 1.540984 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTTTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 58 59 0.9985722 0.989699 0.9941356 0.9984067 0.9736747 0.99737 0.9445716 NA NA 0.001202167 0.04512743 0.9860407 0.9709708 NA 0.0231648 NA FALSE NA 0.005 1.384 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 23/42 1 NA AGA G,A 1.647e-05 2:237354866 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 intron_variant 0.185308 0.18672 0.10548 0.053691 0.759794 0.0655998 7.793308e-11 FALSE NA ENSE00002249647_007 ENSE00002249647 007 2 238263480 238263649 - 62 36 72 T C 238263514 5694 136 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGGCTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354870 237354871 237354871 downstr_intron 28 1.459016 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGGCTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 87 2001 1 0.9983795 0.9991897 0.9984067 0.9736747 0.99737 0.9445716 NA NA 0.002629956 0.05380788 0.9860407 0.9709708 NA 0.02821892 NA FALSE NA 0 -1.777 NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237354871 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 intron_variant -0.205234 0.15394 0.01977 0.053691 0.4890494 0.084462 7.793308e-11 FALSE 1.24125e-05 ENSE00002249647_012 ENSE00002249647 012 2 238263480 238263649 - 62 36 72 C T 238263547 5699 103 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAACTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354903 237354904 237354904 exon -6 0.8611111 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAACTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 62 43 0.9979915 1 0.9989958 0.9984067 0.9736747 0.99737 0.9445716 NA NA 0.0006214742 0.05542842 0.9860407 0.9709708 NA 0.02802495 NA FALSE NA 0.011 -0.259 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 23/43 rs398124129 1 benign(0.1) NA GCT C,T 1.647e-05 2:237354904 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 missense_variant 2.885552 0.90779 0.1725 0.615465 0.9379075 0 7.793308e-11 FALSE 1.22406e-05 ENSE00002249647_014 ENSE00002249647 014 2 238263480 238263649 - 62 36 72 G A 238263554 5701 96 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCTCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354910 237354911 237354911 exon -13 0.6666667 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCTCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 62 90 1 0.9805462 0.9902731 0.9984067 0.9736747 0.99737 0.9445716 NA NA 0.002629956 0.03597459 0.9860407 0.9709708 NA 0.01930227 NA FALSE NA 0 -2.936 . synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 23/43 1 NA GGG G,A 2.471e-05 2:237354911 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 synonymous_variant 0.409162 0.14035 0.02563 0.615465 0.7788261 0 7.793308e-11 FALSE 1.22384e-05 ENSE00002249647_015 ENSE00002249647 015 2 238263480 238263649 - 62 36 72 G T 238263556 5702 94 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGAACCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354912 237354913 237354913 exon -15 0.6111111 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGAACCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 234 48 0.9978703 1 0.9989351 0.9984067 0.9736747 0.99737 0.9445716 NA NA 0.0005002083 0.05542842 0.9860407 0.9709708 NA 0.02796431 NA FALSE NA 0.982 2.113 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 23/43 1 benign(0.227) NA GGT G,T 6.589e-05 2:237354913 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 missense_variant 2.776452 0.79517 0.74584 0.615465 0.8507859 0 7.793308e-11 FALSE 5.71405e-05 ENSE00002249647_018 ENSE00002249647 018 2 238263480 238263649 - 62 36 72 C T 238263574 5705 76 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTAGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354930 237354931 237354931 exon 4 0.1111111 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTAGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 23 104 0.9826987 0.9373869 0.9600428 0.9984067 0.9736747 0.99737 0.9445716 NA NA -0.01467135 -0.007184706 0.9860407 0.9709708 NA -0.01092803 NA FALSE NA 0.038 1.308 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 23/43 1 probably_damaging(0.959) NA CCA C,T 1.647e-05 2:237354931 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 missense_variant 2.915408 0.8058 0.17656 0.615465 0.9361451 0 7.793308e-11 FALSE NA ENSE00002249647_024 ENSE00002249647 024 2 238263480 238263649 - 62 36 72 A C 238263591 5711 59 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACGTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354947 237354948 237354948 upstr_intron -14 -0.1805556 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACGTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 118 70 0.9493639 0.997179 0.9732714 0.9984067 0.9736747 0.99737 0.9445716 NA NA -0.04800616 0.05260739 0.9860407 0.9709708 NA 0.002300612 NA FALSE NA 0.144 1.82 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 22/42 1 NA AAG A,C 8.237e-06 2:237354948 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 non_coding_transcript_exon_variant -0.476833 0.23059 0.12535 0.053691 0.7933535 0.169065 7.793308e-11 FALSE 4.09564e-06 ENSE00002249647_029 ENSE00002249647 029 2 238263480 238263649 - 62 36 72 G C 238263608 5716 42 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCGTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354964 237354965 237354965 upstr_intron -31 -0.4166667 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCGTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 101 167 0.9975293 1 0.9987646 0.9984067 0.9736747 0.99737 0.9445716 NA NA 0.0001592386 0.05542842 0.9860407 0.9709708 NA 0.02779383 NA FALSE NA 0.003 0.003 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237354965 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 non_coding_transcript_exon_variant -0.269475 0.18768 0.09852 0.053691 0.6483006 0.231713 7.793308e-11 FALSE 8.3033e-06 ENSE00002249647_030 ENSE00002249647 030 2 238263480 238263649 - 62 36 72 G A 238263608 5717 42 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCTTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354964 237354965 237354965 upstr_intron -31 -0.4166667 GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCTTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 154 167 1 0.9858576 0.9929288 0.9984067 0.9736747 0.99737 0.9445716 NA NA 0.002629956 0.041286 0.9860407 0.9709708 NA 0.02195798 NA FALSE NA 0.003 0.003 NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00002249647 non_coding_transcript_exon_variant 0.025248 0.1811 0.08086 0.053691 0.680499 0.231713 7.793308e-11 FALSE 4.15165e-06 ENSE00002249647_032 ENSE00002249647 032 2 238263480 238263649 - 62 36 72 G A 238263623 5719 27 GAAAGAGCTCTAGGCCCCATGCCCAGTGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA 237354836 237355006 237354979 237354980 237354980 upstr_intron -46 -0.625 GAAAGAGCTCTAGGCCCCATGCCCAGTGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA GAAAGAGCTCTAGGCCCCATGCCCAGCGTCCCATGCTCCCCCTCACAGTTTGTGGGACTTTTTCTTCCACAGGGTGGCTTTGGCCGAAGGGGACCCCCCGGAGCTAAGGTGAGCCTCATGCAGTGCCCCCTGGAGACTCTCTTCAAACAGCCCAGATGCCGCCCAGCCCA mutant NA NA NA NA NA 85 18 0.9981922 1 0.9990961 0.9984067 0.9736747 0.99737 0.9445716 NA NA 0.000822189 0.05542842 0.9860407 0.9709708 NA 0.0281253 NA FALSE NA 0 -0.49 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 22/42 rs200942887 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 1.648e-05 2:237354980 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002249647 non_coding_transcript_exon_variant 0.226059 0.16877 0.02956 0.053691 0.486119 0.0534915 7.793308e-11 FALSE 2.57929e-05 ENSE00002270312_000 ENSE00002270312 000 4 170616713 170616882 + 50 81 39 NA NA NA NA NA TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 NA NA NA NA NA NA TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT natural 271 503 0.8577314 0.8020434 0.8298874 8569 6584 0.9367839 0.9171442 0.926964 0.8577314 0.8020434 0.9367839 0.9171442 0 0 0 0 0.8298874 0.926964 0 0 0 FALSE FALSE NA NA NA NA NA CLCN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLCN3 NA NA NA ENSG00000109572 ENSE00002270312 NA NA NA NA NA NA NA 0.9932649 TRUE NA ENSE00002270312_001 ENSE00002270312 001 4 170616713 170616882 + 50 81 39 T C 170616725 1641 13 TATGTTTGAATTCCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 169695573 169695574 169695574 upstr_intron -38 -0.74 TATGTTTGAATTCCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 2463 649 0.9448178 0.9502384 0.9475281 0.8577314 0.8020434 0.9367839 0.9171442 NA NA 0.008033958 0.03309423 0.8298874 0.926964 NA 0.02056409 NA FALSE NA 0 0.436 . intron_variant MODIFIER CLCN3 HGNC 2021 ENST00000504131 8/13 1 NA TTC T,C 8.236e-06 4:169695574 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 intron_variant 0.109084 0.2143 0.05928 0.106106 0.3825968 0.0456277 0.9932649 TRUE 8.73126e-06 ENSE00002270312_002 ENSE00002270312 002 4 170616713 170616882 + 50 81 39 A G 170616728 1642 16 TATGTTTGAATTTCTGTGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 169695576 169695577 169695577 upstr_intron -35 -0.68 TATGTTTGAATTTCTGTGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 110 1202 0.8818226 0.8927477 0.8872852 0.8577314 0.8020434 0.9367839 0.9171442 NA NA -0.05496127 -0.02439645 0.8298874 0.926964 NA -0.03967886 NA FALSE NA 0.001 0.086 . intron_variant MODIFIER CLCN3 HGNC 2021 ENST00000504131 8/13 1 NA TAT A,G 2.471e-05 4:169695577 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 intron_variant -0.202406 0.18684 0.03444 0.106106 0.4374678 0.0456277 0.9932649 TRUE 2.18486e-05 ENSE00002270312_003 ENSE00002270312 003 4 170616713 170616882 + 50 81 39 A T 170616739 1643 27 TATGTTTGAATTTCTATGAAATTATGTAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 169695587 169695588 169695588 upstr_intron -24 -0.46 TATGTTTGAATTTCTATGAAATTATGTAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 2459 1278 0.9979035 0.995081 0.9964923 0.8577314 0.8020434 0.9367839 0.9171442 NA NA 0.06111966 0.07793681 0.8298874 0.926964 NA 0.06952824 NA FALSE NA 0 1.403 . intron_variant MODIFIER CLCN3 HGNC 2021 ENST00000504131 8/13 1 NA GAA A,T 8.236e-06 4:169695588 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 intron_variant -0.063593 0.25678 0.15699 0.163922 0.5764812 0.0456277 0.9932649 TRUE 4.26701e-06 ENSE00002270312_004 ENSE00002270312 004 4 170616713 170616882 + 50 81 39 C T 170616747 1644 35 TATGTTTGAATTTCTATGAAATTATGAAATAAGCTATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 169695595 169695596 169695596 upstr_intron -16 -0.3 TATGTTTGAATTTCTATGAAATTATGAAATAAGCTATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 749 551 0.9610063 0.9774867 0.9692465 0.8577314 0.8020434 0.9367839 0.9171442 NA NA 0.02422241 0.06034254 0.8298874 0.926964 NA 0.04228247 NA FALSE NA 0 0.059 . intron_variant MODIFIER CLCN3 HGNC 2021 ENST00000504131 8/13 rs113965731 1 NA T:0 T:0.0001 CCA C,T 1.647e-05 4:169695596 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 intron_variant 0.020168 0.20691 0.02788 0.163922 0.2378506 0.0456277 0.9932649 TRUE 1.64532e-05 ENSE00002270312_006 ENSE00002270312 006 4 170616713 170616882 + 50 81 39 C T 170616752 1646 40 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATTCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 169695600 169695601 169695601 upstr_intron -11 -0.2 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATTCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 3623 1140 0.9262902 0.9969725 0.9616313 0.8577314 0.8020434 0.9367839 0.9171442 NA NA -0.01049365 0.07982829 0.8298874 0.926964 NA 0.03466732 NA FALSE NA 0 -1.256 . intron_variant MODIFIER CLCN3 HGNC 2021 ENST00000504131 8/13 1 NA TCC C,T 1.647e-05 4:169695601 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 intron_variant 0.165403 0.21444 0.00889 0.163922 0.4180889 0.0902919 0.9932649 TRUE 1.64173e-05 ENSE00002270312_007 ENSE00002270312 007 4 170616713 170616882 + 50 81 39 C A 170616753 1647 41 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCATCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 169695601 169695602 169695602 upstr_intron -10 -0.18 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCATCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 669 668 0.9113992 0.8787717 0.8950854 0.8577314 0.8020434 0.9367839 0.9171442 NA NA -0.02538473 -0.03837244 0.8298874 0.926964 NA -0.03187859 NA FALSE NA 0 -0.376 NA NA NA CLCN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:169695602 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 intron_variant 0.047769 0.21059 0.11497 0.163922 0.4229807 0.0912362 0.9932649 TRUE 8.21166e-06 ENSE00002270312_009 ENSE00002270312 009 4 170616713 170616882 + 50 81 39 G A 170616790 1649 78 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGATTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 169695638 169695639 169695639 exon 28 0.345679 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGATTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 330 1658 0.9145773 0.9659574 0.9402674 0.8577314 0.8020434 0.9367839 0.9171442 NA NA -0.02220656 0.04881328 0.8298874 0.926964 NA 0.01330336 NA FALSE NA 1 9.627 . missense_variant MODERATE CLCN3 HGNC 2021 ENST00000504131 9/14 1 probably_damaging(0.97) NA GGT G,A 8.236e-06 4:169695639 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 missense_variant 4.521352 0.99587 0.99275 0.732398 0.998526 0 0.9932649 TRUE 4.06524e-06 ENSE00002270312_010 ENSE00002270312 010 4 170616713 170616882 + 50 81 39 C T 170616860 1650 148 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATATAACAATTAAAATTATATATAAT 169695561 169695731 169695708 169695709 169695709 downstr_intron 17 1.447368 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATATAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 43 2353 0.9138909 0.9622486 0.9380698 0.8577314 0.8020434 0.9367839 0.9171442 NA NA -0.02289297 0.04510444 0.8298874 0.926964 NA 0.01110573 NA FALSE NA 0 -1.244 . intron_variant MODIFIER CLCN3 HGNC 2021 ENST00000504131 9/13 rs373901761 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0009 T:0 ACA C,T 6.592e-05 4:169695709 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 intron_variant -0.063529 0.21686 0.02581 0.106106 0.3096896 0.0448725 0.9932649 TRUE 6.22918e-05 ENSE00002270312_011 ENSE00002270312 011 4 170616713 170616882 + 50 81 39 C T 170616863 1651 151 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAATAATTAAAATTATATATAAT 169695561 169695731 169695711 169695712 169695712 downstr_intron 20 1.526316 TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAATAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT mutant NA NA NA NA NA 1737 1248 0.8412373 0.8562605 0.8487489 0.8577314 0.8020434 0.9367839 0.9171442 NA NA -0.09554657 -0.06088362 0.8298874 0.926964 NA -0.0782151 NA FALSE NA 0.003 0.206 . intron_variant MODIFIER CLCN3 HGNC 2021 ENST00000504131 9/13 1 NA ACA C,T 2.472e-05 4:169695712 CLCN3 HGNC Symbol protein_coding 111040 ENSG00000109572 ENSE00002270312 intron_variant -0.03779 0.29618 0.06786 0.106106 0.2612439 0.0448725 0.9932649 TRUE 1.67136e-05 ENSE00002270312_BRK ENSE00002270312 BRK 4 170616713 170616882 + 50 81 39 A,G; T,T NA NA NA TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTTTGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGCCAGGTGAAAAGAATACAACAATTAAAATTATATATAAT 169695561 169695731 NA NA NA NA NA NA TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTTTGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGCCAGGTGAAAAGAATACAACAATTAAAATTATATATAAT TATGTTTGAATTTCTATGAAATTATGAAATAAGCCATATCCTCTTTCTAGGTGCTATCAGCTGCCTCAGCTGCAGGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAGGTAGGTGAAAAGAATACAACAATTAAAATTATATATAAT control 51 101 0 0 0 695 136 0.004792343 0.002361148 0.003576746 0.8577314 0.8020434 0.9367839 0.9171442 -0.8577314 -0.8020434 -0.9319915 -0.914783 0.8298874 0.926964 -0.8298874 -0.9233873 0.0934999 TRUE TRUE NA NA NA NA NA CLCN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CLCN3 NA NA NA ENSG00000109572 ENSE00002270312 NA NA NA NA NA NA NA 0.9932649 TRUE NA ENSE00002271287_000 ENSE00002271287 000 16 77375569 77375738 - 32 96 42 NA NA NA NA NA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 NA NA NA NA NA NA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA natural 129 247 0.85 0.9029649 0.8764825 1371 1274 0.7765544 0.7491018 0.7628281 0.85 0.9029649 0.7765544 0.7491018 0 0 0 0 0.8764825 0.7628281 0 0 0 FALSE FALSE NA NA NA NA NA ADAMTS18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS18 NA NA NA ENSG00000140873 ENSE00002271287 NA NA NA NA NA NA NA 3.739351e-15 FALSE NA ENSE00002271287_001 ENSE00002271287 001 16 77375569 77375738 - 32 96 42 C G 77375581 2901 158 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTACTTTTTAGCTCCA 77341671 77341841 77341683 77341684 77341684 downstr_intron 20 1.645161 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTACTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 307 60 0.9924103 0.9891611 0.9907857 0.85 0.9029649 0.7765544 0.7491018 NA NA 0.215856 0.2400594 0.8764825 0.7628281 NA 0.2279577 NA FALSE NA 0.001 0.822 rs17620357 intron_variant MODIFIER ADAMTS18 HGNC 17110 ENST00000282849 11/22 rs17620357 1 G:0.0254 G:0.0061 G:0.0259 NA G:0.001 G:0.0358 G:0.0654 G:0.0159 G:0.0326 ACT C 0.029 16:77341684 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 intron_variant 0.386333 0.84391 0.23892 0.106106 0.5063236 0.11625 3.739351e-15 FALSE NA ENSE00002271287_004 ENSE00002271287 004 16 77375569 77375738 - 32 96 42 A G 77375594 2904 145 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACCGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341696 77341697 77341697 downstr_intron 7 1.225806 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACCGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant 12 10 0.85 0.85 0.85 10 65 0.8 0.8 0.8 0.85 0.9029649 0.7765544 0.7491018 0 -0.05296494 0.02344561 0.05089822 0.8764825 0.7628281 -0.02648247 0.03717191 0.06365438 FALSE FALSE 0.796 1.57 NA NA NA ADAMTS18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:77341697 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 splice_region_variant 1.223526 0.97039 0.65059 0.106106 0.852215 0.252754 3.739351e-15 FALSE 0.000118885 ENSE00002271287_011 ENSE00002271287 011 16 77375569 77375738 - 32 96 42 C T 77375655 2911 84 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGATGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341757 77341758 77341758 exon 42 0.4375 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGATGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 447 127 0.9523272 0.9723318 0.9623295 0.85 0.9029649 0.7765544 0.7491018 NA NA 0.1757728 0.22323 0.8764825 0.7628281 NA 0.1995014 NA FALSE NA 0.949 -0.029 . synonymous_variant LOW ADAMTS18 HGNC 17110 ENST00000282849 11/23 rs373068752&COSM704720 1 NA T:0 T:0.0001 ACC C 3.295e-05 16:77341758 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 synonymous_variant 2.039311 0.96872 0.58659 0.6512 0.5884356 0 3.739351e-15 FALSE 2.85163e-05 ENSE00002271287_012 ENSE00002271287 012 16 77375569 77375738 - 32 96 42 G T 77375661 2912 78 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGACACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341763 77341764 77341764 exon 36 0.375 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGACACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 1334 330 0.9280985 0.9548783 0.9414884 0.85 0.9029649 0.7765544 0.7491018 NA NA 0.1515441 0.2057765 0.8764825 0.7628281 NA 0.1786603 NA FALSE NA 0.535 -0.279 . synonymous_variant LOW ADAMTS18 HGNC 17110 ENST00000282849 11/23 1 NA GGC G 8.237e-06 16:77341764 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 synonymous_variant 0.715421 0.97168 0.36566 0.732398 0.672909 0 3.739351e-15 FALSE 4.07614e-06 ENSE00002271287_013 ENSE00002271287 013 16 77375569 77375738 - 32 96 42 A G 77375665 2913 74 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGCAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341767 77341768 77341768 exon 32 0.3333333 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGCAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 153 102 1 0.9925809 0.9962905 0.85 0.9029649 0.7765544 0.7491018 NA NA 0.2234456 0.2434791 0.8764825 0.7628281 NA 0.2334624 NA FALSE NA 0.795 2.317 rs141453466 missense_variant MODERATE ADAMTS18 HGNC 17110 ENST00000282849 11/23 rs141453466 1 tolerated(0.44) benign(0.002) G:0.0014 G:0.0053 G:0 NA G:0 G:0 G:0 G:0.0048 G:0 TAC A 0.0003789 16:77341768 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 missense_variant 1.642333 0.97885 0.5487 0.732398 0.6591627 0 3.739351e-15 FALSE 0.00028563 ENSE00002271287_017 ENSE00002271287 017 16 77375569 77375738 - 32 96 42 T C 77375671 2917 68 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCGCCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341773 77341774 77341774 exon 26 0.2708333 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCGCCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 3952 165 0.9792135 0.9510102 0.9651119 0.85 0.9029649 0.7765544 0.7491018 NA NA 0.2026591 0.2019085 0.8764825 0.7628281 NA 0.2022838 NA FALSE NA 1 7.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:77341774 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 missense_variant 2.143245 0.99331 0.97494 0.6512 0.9983425 0 3.739351e-15 FALSE 4.08377e-06 ENSE00002271287_020 ENSE00002271287 020 16 77375569 77375738 - 32 96 42 A G 77375679 2920 60 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTCTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341781 77341782 77341782 exon 18 0.1875 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTCTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 111 456 0.8072342 0.8213066 0.8142704 0.85 0.9029649 0.7765544 0.7491018 NA NA 0.03067976 0.07220483 0.8764825 0.7628281 NA 0.05144229 NA FALSE NA 0.977 0.118 NA NA NA ADAMTS18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:77341782 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 synonymous_variant 0.039453 0.96719 0.59477 0.6512 0.7224092 0 3.739351e-15 FALSE 4.09474e-06 ENSE00002271287_024 ENSE00002271287 024 16 77375569 77375738 - 32 96 42 A G 77375700 2924 39 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTCCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341802 77341803 77341803 upstr_intron -4 -0.07142857 GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTCCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 294 474 0.8032835 0.8 0.8016417 0.85 0.9029649 0.7765544 0.7491018 NA NA 0.02672911 0.05089822 0.8764825 0.7628281 NA 0.03881366 NA FALSE NA 0.641 0.171 . splice_region_variant&intron_variant LOW ADAMTS18 HGNC 17110 ENST00000282849 10/22 1 NA GAA A 8.244e-06 16:77341803 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 splice_region_variant 0.368937 0.79649 0.75045 0.088506 0.6571032 0.195675 3.739351e-15 FALSE 8.57456e-06 ENSE00002271287_025 ENSE00002271287 025 16 77375569 77375738 - 32 96 42 A T 77375704 2925 35 GTATATCACCATTAACAGCACCCCCCTTTTTTTTAATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341806 77341807 77341807 upstr_intron -8 -0.1666667 GTATATCACCATTAACAGCACCCCCCTTTTTTTTAATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant 61 24 0 0.05526578 0.02763289 NA NA NA NA NA 0.85 0.9029649 0.7765544 0.7491018 -0.85 -0.8476992 NA NA 0.8764825 0.7628281 -0.8488496 NA NA NA TRUE 0.049 0.178 . splice_region_variant&intron_variant LOW ADAMTS18 HGNC 17110 ENST00000282849 10/22 rs113693298&~rs113693298 1 -:0.0631 -:0.1846&-:0.1846 -:0.0231&-:0.0231 NA -:0.002&-:0.002 -:0.0119&-:0.0119 -:0.0429&-:0.0429 TAA A 0.0001052 16:77341807 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 splice_region_variant -0.296456 0.39818 0.15984 0.088506 0.5054686 0.190526 3.739351e-15 FALSE 0.000122676 ENSE00002271287_028 ENSE00002271287 028 16 77375569 77375738 - 32 96 42 G C 77375717 2928 22 GTATATCACCATTAACAGCACGCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341819 77341820 77341820 upstr_intron -21 -0.4761905 GTATATCACCATTAACAGCACGCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant 36 27 0.85 0.85 0.85 7502 196 0.7885627 0.8 0.7942813 0.85 0.9029649 0.7765544 0.7491018 0 -0.05296494 0.0120083 0.05089822 0.8764825 0.7628281 -0.02648247 0.03145326 0.05793573 FALSE FALSE 0.014 1.051 . intron_variant MODIFIER ADAMTS18 HGNC 17110 ENST00000282849 10/22 1 NA GGG G 8.247e-06 16:77341820 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 intron_variant -0.007406 0.2796 0.41213 0.088506 0.7344814 0.0448725 3.739351e-15 FALSE 4.49176e-06 ENSE00002271287_029 ENSE00002271287 029 16 77375569 77375738 - 32 96 42 G T 77375720 2929 19 GTATATCACCATTAACAGAACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341822 77341823 77341823 upstr_intron -24 -0.547619 GTATATCACCATTAACAGAACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 93 48 0.8540634 0.9713197 0.9126916 0.85 0.9029649 0.7765544 0.7491018 NA NA 0.07750902 0.2222179 0.8764825 0.7628281 NA 0.1498635 NA FALSE NA 0 -2.3 rs115114398 intron_variant MODIFIER ADAMTS18 HGNC 17110 ENST00000282849 10/22 rs115114398 1 T:0.0110 T:0.0393 T:0.0043 NA T:0 T:0 T:0 T:0.03 T:0.0002 TGC G 0.002807 16:77341823 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 intron_variant -0.276496 0.18894 0.02088 0.088506 0.5657418 0.0448725 3.739351e-15 FALSE 0.00206019 ENSE00002271287_030 ENSE00002271287 030 16 77375569 77375738 - 32 96 42 T C 77375722 2930 17 GTATATCACCATTAACGGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 77341824 77341825 77341825 upstr_intron -26 -0.5952381 GTATATCACCATTAACGGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA mutant NA NA NA NA NA 174 353 0.4716609 0.6630167 0.5673388 0.85 0.9029649 0.7765544 0.7491018 NA NA -0.3048935 -0.08608512 0.8764825 0.7628281 NA -0.1954893 NA FALSE NA 0 -0.154 . intron_variant MODIFIER ADAMTS18 HGNC 17110 ENST00000282849 10/22 1 NA CTG T 1.652e-05 16:77341825 ADAMTS18 HGNC Symbol protein_coding 187301 ENSG00000140873 ENSE00002271287 intron_variant -0.045056 0.17418 0.06717 0.088506 0.5604587 0.0856053 3.739351e-15 FALSE 9.35629e-06 ENSE00002271287_BRK ENSE00002271287 BRK 16 77375569 77375738 - 32 96 42 A,G; T,T NA NA NA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCTTGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGCCAAACTGCATACTTGTTAGTTTTTAGCTCCA 77341671 77341841 NA NA NA NA NA NA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCTTGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGCCAAACTGCATACTTGTTAGTTTTTAGCTCCA GTATATCACCATTAACAGCACCCCCCTTTTTTTTTATTTCAGGATATTTGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCAGCAGAAGGGACCGTTTGTGGCTTGAGTATGGTAAACTGCATACTTGTTAGTTTTTAGCTCCA control 105 132 0 0.02987366 0.01493683 NA NA NA NA NA 0.85 0.9029649 0.7765544 0.7491018 -0.85 -0.8730913 NA NA 0.8764825 0.7628281 -0.8615456 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ADAMTS18 NA NA NA ENSG00000140873 ENSE00002271287 NA NA NA NA NA NA NA 3.739351e-15 FALSE NA ENSE00002275313_000 ENSE00002275313 000 19 39759741 39759910 + 51 78 41 NA NA NA NA NA GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC 39269100 39269270 NA NA NA NA NA NA GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC natural NA NA NA NA NA 3794 1719 0.9629378 0.9638804 0.9634091 NA NA 0.9629378 0.9638804 NA NA 0 0 NA 0.9634091 NA 0 NA FALSE NA NA NA NA NA NA IFNL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFNL2 NA NA NA ENSG00000183709 ENSE00002441331 NA NA NA NA NA NA NA 1.954872e-05 FALSE NA ENSE00002275313_002 ENSE00002275313 002 19 39759741 39759910 + 51 78 41 C T 39759753 2314 13 GTCTAACCTCCATCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC 39269100 39269270 39269112 39269113 39269113 upstr_intron -39 -0.745098 GTCTAACCTCCATCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC mutant NA NA NA NA NA 246 68 0.9642401 0.95 0.9571201 NA NA 0.9629378 0.9638804 NA NA 0.001302339 -0.01388036 NA 0.9634091 NA -0.006289011 NA FALSE NA 0 -1.333 . intron_variant MODIFIER IFNL2 HGNC 18364 ENST00000331982 2/5 1 NA ACC C,T 8.239e-06 19:39269113 IFNL2 HGNC Symbol protein_coding 1578 ENSG00000183709 ENSE00002441331 intron_variant -0.577311 0.04544 0.00143 0.095506 0.5580068 0.141327 1.954872e-05 FALSE 1.33031e-05 ENSE00002275313_003 ENSE00002275313 003 19 39759741 39759910 + 51 78 41 C T 39759758 2315 18 GTCTAACCTCCACCCCTTCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC 39269100 39269270 39269117 39269118 39269118 upstr_intron -34 -0.6470588 GTCTAACCTCCACCCCTTCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC mutant NA NA NA NA NA 127 795 0.9957098 0.9905706 0.9931402 NA NA 0.9629378 0.9638804 NA NA 0.03277197 0.02669025 NA 0.9634091 NA 0.02973111 NA FALSE NA 0 -1.26 . intron_variant MODIFIER IFNL2 HGNC 18364 ENST00000331982 2/5 1 NA TCC C,T 8.239e-06 19:39269118 IFNL2 HGNC Symbol protein_coding 1578 ENSG00000183709 ENSE00002441331 intron_variant 0.129419 0.07744 0.0125 0.095506 0.7116444 0.0906063 1.954872e-05 FALSE 4.33828e-06 ENSE00002275313_004 ENSE00002275313 004 19 39759741 39759910 + 51 78 41 C T 39759772 2316 32 GTCTAACCTCCACCCCTCCTGCTGGGGCTAATCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC 39269100 39269270 39269131 39269132 39269132 upstr_intron -20 -0.372549 GTCTAACCTCCACCCCTCCTGCTGGGGCTAATCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC mutant NA NA NA NA NA 260 132 0.9579477 0.9997112 0.9788294 NA NA 0.9629378 0.9638804 NA NA -0.0049901 0.03583081 NA 0.9634091 NA 0.01542035 NA FALSE NA 0.002 0.263 . intron_variant MODIFIER IFNL2 HGNC 18364 ENST00000331982 2/5 1 NA ACC C,T 8.238e-06 19:39269132 IFNL2 HGNC Symbol protein_coding 1578 ENSG00000183709 ENSE00002441331 intron_variant 0.797032 0.17388 0.04556 0.095506 0.7561415 0.113016 1.954872e-05 FALSE 4.19003e-06 ENSE00002275313_012 ENSE00002275313 012 19 39759741 39759910 + 51 78 41 A G 39759826 2324 86 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC 39269100 39269270 39269185 39269186 39269186 exon 35 0.4487179 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCGCTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC mutant NA NA NA NA NA 48 51 0.9710813 0.9992503 0.9851658 NA NA 0.9629378 0.9638804 NA NA 0.008143463 0.03536992 NA 0.9634091 NA 0.02175669 NA FALSE NA 0 -0.237 rs115134580 missense_variant MODERATE IFNL2 HGNC 18364 ENST00000331982 3/6 rs115134580 1 tolerated(0.32) benign(0) G:0.0377 G:0.1263 G:0.0216 NA G:0.001 G:0.002 G:0.0041 CAC G,G 0.007952 19:39269186 IFNL2 HGNC Symbol protein_coding 1578 ENSG00000183709 ENSE00002441331 missense_variant -2.106213 0.05383 1e-04 0.497415 0.1964537 0 1.954872e-05 FALSE 0.00716573 ENSE00002275313_019 ENSE00002275313 019 19 39759741 39759910 + 51 78 41 G T 39759860 2331 120 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGTCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC 39269100 39269270 39269219 39269220 39269220 exon -10 0.8846154 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGTCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC mutant NA NA NA NA NA 132 113 1 1 1 NA NA 0.9629378 0.9638804 NA NA 0.0370622 0.03611964 NA 0.9634091 NA 0.03659092 NA FALSE NA 0.968 2.457 . missense_variant MODERATE IFNL2 HGNC 18364 ENST00000331982 3/6 1 tolerated(0.05) benign(0.082) NA GGC G,T 1.649e-05 19:39269220 IFNL2 HGNC Symbol protein_coding 1578 ENSG00000183709 ENSE00002441331 missense_variant 1.509446 0.89335 0.72179 0.497415 0.9636249 0 1.954872e-05 FALSE NA ENSE00002275313_020 ENSE00002275313 020 19 39759741 39759910 + 51 78 41 G A 39759863 2332 123 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAACTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC 39269100 39269270 39269222 39269223 39269223 exon -7 0.9230769 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAACTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC mutant NA NA NA NA NA 31 91 0.9973143 0.9878472 0.9925807 NA NA 0.9629378 0.9638804 NA NA 0.0343765 0.0239668 NA 0.9634091 NA 0.02917165 NA FALSE NA 0.998 0.409 . synonymous_variant LOW IFNL2 HGNC 18364 ENST00000331982 3/6 1 NA AGC G,A 1.649e-05 19:39269223 IFNL2 HGNC Symbol protein_coding 1578 ENSG00000183709 ENSE00002441331 synonymous_variant -0.228851 0.92558 0.37422 0.497415 0.5093406 0 1.954872e-05 FALSE NA ENSE00002275313_024 ENSE00002275313 024 19 39759741 39759910 + 51 78 41 C T 39759890 2336 150 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCTACCCCTGCTCTCCCAGCCCC 39269100 39269270 39269249 39269250 39269250 downstr_intron 21 1.525 GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCTACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC mutant NA NA NA NA NA 15 169 0.9446034 0.9408 0.9427017 NA NA 0.9629378 0.9638804 NA NA -0.01833444 -0.02308037 NA 0.9634091 NA -0.02070741 NA FALSE NA 0.006 1.471 . intron_variant MODIFIER IFNL2 HGNC 18364 ENST00000331982 3/5 1 NA CCA C,T 8.255e-06 19:39269250 IFNL2 HGNC Symbol protein_coding 1578 ENSG00000183709 ENSE00002441331 intron_variant 0.37999 0.10949 0.03911 0.056701 0.7246303 0.0535138 1.954872e-05 FALSE 4.71952e-06 ENSE00002275313_BRK ENSE00002275313 BRK 19 39759741 39759910 + 51 78 41 A,G; T,T NA NA NA GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTTTGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGCCGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC 39269100 39269270 NA NA NA NA NA NA GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTTTGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGCCGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC GTCTAACCTCCACCCCTCCTGCTGGGGCTAACCTGTGCCTTTGCTGTCTAGGAAGAGTCGCTTCTGCTGAAGGACTGCAGGTGCCACTCCCGCCTCTTCCCCAGGACCTGGGACCTGAGGCAGCTGCAGGTGAGAGGGGGAGTCAGGCCCACCCCTGCTCTCCCAGCCCC control 112 95 0 0 0 NA NA NA NA NA NA NA 0.9629378 0.9638804 NA NA NA NA NA 0.9634091 NA NA NA NA NA NA NA NA NA NA IFNL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFNL2 NA NA NA ENSG00000183709 ENSE00002441331 NA NA NA NA NA NA NA 1.954872e-05 FALSE NA ENSE00002276843_000 ENSE00002276843 000 2 238270349 238270518 - 33 93 44 NA NA NA NA NA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 NA NA NA NA NA NA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA natural 64 42 0.85 0.85 0.85 1299 2325 0.9401544 0.9521753 0.9461649 0.85 0.85 0.9401544 0.9521753 0 0 0 0 0.85 0.9461649 0 0 0 FALSE FALSE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00002276843 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002276843_007 ENSE00002276843 007 2 238270349 238270518 - 33 93 44 T C 238270384 5746 135 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAGAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361740 237361741 237361741 exon -3 0.9784946 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAGAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 426 1906 0.7855171 0.8135096 0.7995134 0.85 0.85 0.9401544 0.9521753 NA NA -0.1546373 -0.1386657 0.85 0.9461649 NA -0.1466515 NA FALSE NA 1 7.552 . missense_variant&splice_region_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 1 unknown(0) NA TTT T,C 8.236e-06 2:237361741 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 4.696847 0.99132 0.98417 0.553676 0.9811113 0 7.793308e-11 FALSE 4.06088e-06 ENSE00002276843_008 ENSE00002276843 008 2 238270349 238270518 - 33 93 44 G A 238270386 5747 133 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCTAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361742 237361743 237361743 exon -5 0.9569892 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCTAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 771 86 0.9787229 0.9662083 0.9724656 0.85 0.85 0.9401544 0.9521753 NA NA 0.03856852 0.01403299 0.85 0.9461649 NA 0.02630076 NA FALSE NA 1 2.732 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 1 unknown(0) NA TGG G,A 8.236e-06 2:237361743 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 2.911664 0.97978 0.93111 0.553676 0.9857768 0 7.793308e-11 FALSE 4.06101e-06 ENSE00002276843_010 ENSE00002276843 010 2 238270349 238270518 - 33 93 44 G A 238270391 5749 128 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATTGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361747 237361748 237361748 exon -10 0.9032258 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATTGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 251 366 0.792191 0.8190299 0.8056104 0.85 0.85 0.9401544 0.9521753 NA NA -0.1479634 -0.1331454 0.85 0.9461649 NA -0.1405544 NA FALSE NA 0 -1.96 . synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 14/43 rs536959688&COSM300365 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 4.942e-05 2:237361748 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 synonymous_variant 1.154122 0.19511 0.03044 0.553676 0.8023063 0 7.793308e-11 FALSE 2.84262e-05 ENSE00002276843_011 ENSE00002276843 011 2 238270349 238270518 - 33 93 44 G A 238270400 5750 119 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATTGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361756 237361757 237361757 exon -19 0.8064516 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATTGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 645 74 0.8004995 0.8034057 0.8019526 0.85 0.85 0.9401544 0.9521753 NA NA -0.1396549 -0.1487696 0.85 0.9461649 NA -0.1442122 NA FALSE NA 0 -4.441 rs115401779 synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 14/43 rs115401779 1 A:0.0014 A:0.0053 A:0 NA A:0 A:0 A:0 A:0.0016 A:0 CGA G,A 0.0002224 2:237361757 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 synonymous_variant 0.949417 0.07693 0.01163 0.553676 0.7194099 0 7.793308e-11 FALSE 0.000178673 ENSE00002276843_012 ENSE00002276843 012 2 238270349 238270518 - 33 93 44 G A 238270405 5751 114 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGTCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361761 237361762 237361762 exon -24 0.7526882 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGTCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 56 194 0.9871277 0.9866021 0.9868649 0.85 0.85 0.9401544 0.9521753 NA NA 0.04697331 0.03442682 0.85 0.9461649 NA 0.04070007 NA FALSE NA 0.399 0.454 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 COSM3579599 1 unknown(0) NA GGC G,A 8.236e-06 2:237361762 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 1.527972 0.33089 0.20189 0.553676 0.9572227 0 7.793308e-11 FALSE 4.06072e-06 ENSE00002276843_014 ENSE00002276843 014 2 238270349 238270518 - 33 93 44 G A 238270409 5753 110 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGTGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361765 237361766 237361766 exon -28 0.7096774 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGTGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 198 77 0.8008135 0.8201793 0.8104964 0.85 0.85 0.9401544 0.9521753 NA NA -0.1393409 -0.1319959 0.85 0.9461649 NA -0.1356684 NA FALSE NA 0.057 -0.751 . synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 14/43 rs576524993 1 NA CGC G,A 1.647e-05 2:237361766 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 synonymous_variant 0.012615 0.07533 0.03875 0.553676 0.3654853 0 7.793308e-11 FALSE 2.03039e-05 ENSE00002276843_015 ENSE00002276843 015 2 238270349 238270518 - 33 93 44 C T 238270410 5754 109 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCACGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361766 237361767 237361767 exon -29 0.6989247 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCACGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 585 166 0.800446 0.8654555 0.8329507 0.85 0.85 0.9401544 0.9521753 NA NA -0.1397084 -0.08671979 0.85 0.9461649 NA -0.1132141 NA FALSE NA 1 5.487 rs142090771 missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 rs142090771 1 unknown(0) NA T:0.0005 T:0.0002 GCG C,T 3.295e-05 2:237361767 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 5.06846 0.98818 0.9734 0.553676 0.9238038 0 7.793308e-11 FALSE 1.62429e-05 ENSE00002276843_017 ENSE00002276843 017 2 238270349 238270518 - 33 93 44 C T 238270418 5756 101 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGAGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361774 237361775 237361775 exon -37 0.6129032 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGAGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 108 462 0.9996183 0.995726 0.9976722 0.85 0.85 0.9401544 0.9521753 NA NA 0.05946391 0.04355073 0.85 0.9461649 NA 0.05150732 NA FALSE NA 0.617 -0.224 . synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 14/43 COSM3579600 1 NA CCC C,T 8.236e-06 2:237361775 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 synonymous_variant 1.371694 0.93063 0.16599 0.553676 0.5880982 0 7.793308e-11 FALSE 4.06065e-06 ENSE00002276843_018 ENSE00002276843 018 2 238270349 238270518 - 33 93 44 C G 238270421 5757 98 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCACAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361777 237361778 237361778 exon -40 0.5806452 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCACAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 12 105 0.8 0.8 0.8 0.85 0.85 0.9401544 0.9521753 NA NA -0.1401544 -0.1521753 0.85 0.9461649 NA -0.1461649 NA FALSE NA 0.011 -1.087 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 1 unknown(0) NA TCT C,G 9.06e-05 2:237361778 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant -0.041217 0.20502 0.05425 0.553676 0.7350096 0 7.793308e-11 FALSE 2.84241e-05 ENSE00002276843_019 ENSE00002276843 019 2 238270349 238270518 - 33 93 44 C T 238270433 5758 86 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAATGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361789 237361790 237361790 exon 42 0.4516129 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAATGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 131 437 0.9901776 0.9946907 0.9924341 0.85 0.85 0.9401544 0.9521753 NA NA 0.05002318 0.0425154 0.85 0.9461649 NA 0.04626929 NA FALSE NA 0.54 -0.236 rs35556524 synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 14/43 rs35556524 1 T:0.0052 T:0.0197 T:0 NA T:0 T:0 T:0 T:0.0163 T:0.0002 ACT C,T 0.001581 2:237361790 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 synonymous_variant 1.843291 0.68054 0.15832 0.553676 0.6183273 0 7.793308e-11 FALSE 0.00121006 ENSE00002276843_020 ENSE00002276843 020 2 238270349 238270518 - 33 93 44 G T 238270440 5759 79 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCACTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361796 237361797 237361797 exon 35 0.3763441 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCACTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 327 461 0.8318379 0.8173028 0.8245703 0.85 0.85 0.9401544 0.9521753 NA NA -0.1083165 -0.1348725 0.85 0.9461649 NA -0.1215945 NA FALSE NA 1 6.238 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 rs374349826 1 unknown(0) NA T:0 T:0.0001 GGG G,T 8.236e-06 2:237361797 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 2.438329 0.98963 0.98093 0.553676 0.974139 0 7.793308e-11 FALSE 4.06068e-06 ENSE00002276843_022 ENSE00002276843 022 2 238270349 238270518 - 33 93 44 C G 238270452 5761 67 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTCCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361808 237361809 237361809 exon 23 0.2473118 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTCCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 780 1340 0.8458892 1 0.9229446 0.85 0.85 0.9401544 0.9521753 NA NA -0.09426523 0.0478247 0.85 0.9461649 NA -0.02322026 NA FALSE NA 1 5.605 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 1 unknown(0) NA GCA C,G 8.236e-06 2:237361809 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 4.631974 0.99385 0.98245 0.553676 0.9595709 0 7.793308e-11 FALSE 4.06065e-06 ENSE00002276843_023 ENSE00002276843 023 2 238270349 238270518 - 33 93 44 C T 238270456 5762 63 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAACTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361812 237361813 237361813 exon 19 0.2043011 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAACTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 207 469 0.8 0.8055791 0.8027895 0.85 0.85 0.9401544 0.9521753 NA NA -0.1401544 -0.1465962 0.85 0.9461649 NA -0.1433753 NA FALSE NA 0.989 1.421 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 1 unknown(0) NA GCT C,T 8.236e-06 2:237361813 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 3.214417 0.97621 0.83465 0.553676 0.9728121 0 7.793308e-11 FALSE 4.06058e-06 ENSE00002276843_024 ENSE00002276843 024 2 238270349 238270518 - 33 93 44 T C 238270458 5763 61 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAGAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361814 237361815 237361815 exon 17 0.1827957 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAGAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 390 282 0.7945494 0.8 0.7972747 0.85 0.85 0.9401544 0.9521753 NA NA -0.145605 -0.1521753 0.85 0.9461649 NA -0.1488901 NA FALSE NA 1 3.052 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 1 unknown(0) NA TTT T,C 8.236e-06 2:237361815 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 2.169209 0.97619 0.64143 0.553676 0.9756627 0 7.793308e-11 FALSE 4.06058e-06 ENSE00002276843_025 ENSE00002276843 025 2 238270349 238270518 - 33 93 44 C T 238270462 5764 57 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCAAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361818 237361819 237361819 exon 13 0.1397849 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCAAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 2754 775 0.8378418 0.9338946 0.8858682 0.85 0.85 0.9401544 0.9521753 NA NA -0.1023126 -0.01828069 0.85 0.9461649 NA -0.06029664 NA FALSE NA 1 5.583 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 COSM210534 1 unknown(0) NA TCG C,T 1.647e-05 2:237361819 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 6.149619 0.98899 0.96891 0.638212 0.992743 0 7.793308e-11 FALSE 1.21819e-05 ENSE00002276843_028 ENSE00002276843 028 2 238270349 238270518 - 33 93 44 T C 238270468 5767 51 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACGTTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361824 237361825 237361825 exon 7 0.07526882 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACGTTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 1675 520 0.9956516 0.9816195 0.9886355 0.85 0.85 0.9401544 0.9521753 NA NA 0.05549717 0.02944421 0.85 0.9461649 NA 0.04247069 NA FALSE NA 1 1.603 rs113418871 missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 14/43 rs113418871 1 unknown(0) NA ATG T,C 1.647e-05 2:237361825 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 missense_variant 1.335284 0.97581 0.86633 0.638212 0.944541 0 7.793308e-11 FALSE 1.21819e-05 ENSE00002276843_031 ENSE00002276843 031 2 238270349 238270518 - 33 93 44 G A 238270480 5770 39 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTTGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361836 237361837 237361837 upstr_intron -6 -0.1136364 CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTTGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 973 348 0.9551043 0.9013394 0.9282219 0.85 0.85 0.9401544 0.9521753 NA NA 0.01494986 -0.05083587 0.85 0.9461649 NA -0.017943 NA FALSE NA 0 0.274 . splice_region_variant&intron_variant LOW COL6A3 HGNC 2213 ENST00000346358 13/42 rs202091342 1 A:0.0018 A:0.003 A:0.0014 NA A:0.001 A:0 A:0.0031 A:0.0002 A:0 CGA A,A 0.001235 2:237361837 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 splice_region_variant -0.019938 0.185 0.02483 0.06567 0.5277554 0.152825 7.793308e-11 FALSE 0.00121425 ENSE00002276843_032 ENSE00002276843 032 2 238270349 238270518 - 33 93 44 G T 238270490 5771 29 CATTTCTTGAGATCTGAACATTTGGTTTATCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361846 237361847 237361847 upstr_intron -16 -0.3409091 CATTTCTTGAGATCTGAACATTTGGTTTATCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 198 15 0.8008135 0.8 0.8004068 0.85 0.85 0.9401544 0.9521753 NA NA -0.1393409 -0.1521753 0.85 0.9461649 NA -0.1457581 NA FALSE NA 0 -0.817 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 13/42 1 NA AGA G,T 1.647e-05 2:237361847 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 intron_variant 0.128959 0.13424 0.02849 0.06567 0.5064758 0.0814197 7.793308e-11 FALSE 1.62448e-05 ENSE00002276843_034 ENSE00002276843 034 2 238270349 238270518 - 33 93 44 A G 238270498 5773 21 CATTTCTTGAGATCTGAACACTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 237361854 237361855 237361855 upstr_intron -24 -0.5227273 CATTTCTTGAGATCTGAACACTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA mutant NA NA NA NA NA 1030 223 0.8152238 0.8591647 0.8371942 0.85 0.85 0.9401544 0.9521753 NA NA -0.1249306 -0.09301061 0.85 0.9461649 NA -0.1089706 NA FALSE NA 0.032 3.173 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 13/42 1 NA AAT A,G 8.237e-06 2:237361855 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002276843 intron_variant -0.112517 0.1778 0.03783 0.06567 0.4161386 0.0803151 7.793308e-11 FALSE 4.06138e-06 ENSE00002276843_BRK ENSE00002276843 BRK 2 238270349 238270518 - 33 93 44 A,G; T,T NA NA NA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGCCACGGTGGCTTTACCCTTGCCCACGCCTGAGA 237361705 237361875 NA NA NA NA NA NA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTTTGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGCCACGGTGGCTTTACCCTTGCCCACGCCTGAGA CATTTCTTGAGATCTGAACATTTGGTTTCTCTTCCTTTCGGTAGGACAACATTGCCGAGAAAGCTTGCTGTGGGGTTCCCTGCAAGTGCTCTGGGCAGAGGGGAGACCGCGGGCCCATCGGCAGCATCGGGCCAAAGGTACGGTGGCTTTACCCTTGCCCACGCCTGAGA control NA NA NA NA NA 330 66 0.1777578 0 0.08887892 0.85 0.85 0.9401544 0.9521753 NA NA -0.7623966 -0.9521753 0.85 0.9461649 NA -0.8572859 NA TRUE NA NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00002276843 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002277053_000 ENSE00002277053 000 12 109661575 109661744 + 45 90 35 NA NA NA NA NA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 NA NA NA NA NA NA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA natural NA NA NA NA NA 1825 1533 0.8278638 0.9957131 0.9117884 NA NA 0.8278638 0.9957131 NA NA 0 0 NA 0.9117884 NA 0 NA FALSE NA NA NA NA NA NA ACACB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACACB NA NA NA ENSG00000076555 ENSE00003732315 NA NA NA NA NA NA NA 5.124327e-22 FALSE NA ENSE00002277053_003 ENSE00002277053 003 12 109661575 109661744 + 45 90 35 C A 109661601 3117 27 TGTTCACATTTACTTTTCCTTGTTTCACCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223795 109223796 109223796 upstr_intron -19 -0.4 TGTTCACATTTACTTTTCCTTGTTTCACCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 42 54 1 1 1 NA NA 0.8278638 0.9957131 NA NA 0.1721362 0.00428695 NA 0.9117884 NA 0.08821157 NA FALSE NA 0.001 2.095 . intron_variant MODIFIER ACACB HGNC 85 ENST00000377854 24/50 rs375670229 1 NA A:0 A:0.0003 CCC C,A 4.118e-05 12:109223796 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 intron_variant 0.533422 0.31175 0.3695 0.062308 0.6259059 0.113898 5.124327e-22 FALSE 3.24907e-05 ENSE00002277053_004 ENSE00002277053 004 12 109661575 109661744 + 45 90 35 C A 109661608 3118 34 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTAATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223802 109223803 109223803 upstr_intron -12 -0.2444444 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTAATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 27 737 0.9765058 0.9886425 0.9825742 NA NA 0.8278638 0.9957131 NA NA 0.148642 -0.007070505 NA 0.9117884 NA 0.07078575 NA FALSE NA 0 0.017 . intron_variant MODIFIER ACACB HGNC 85 ENST00000377854 24/50 1 NA TCA C,A 5.765e-05 12:109223803 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 intron_variant -0.157479 0.24849 0.09698 0.062308 0.4133072 0.113957 5.124327e-22 FALSE 5.68574e-05 ENSE00002277053_005 ENSE00002277053 005 12 109661575 109661744 + 45 90 35 T A 109661632 3119 58 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTACGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223826 109223827 109223827 exon 13 0.1444444 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTACGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 125 166 1 0.992812 0.996406 NA NA 0.8278638 0.9957131 NA NA 0.1721362 -0.002901055 NA 0.9117884 NA 0.08461756 NA FALSE NA 1 7.888 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 1 unknown(0) NA TTC T,A 8.236e-06 12:109223827 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant 4.756089 0.99243 0.99052 0.562547 0.9901542 0 5.124327e-22 FALSE 8.12143e-06 ENSE00002277053_009 ENSE00002277053 009 12 109661575 109661744 + 45 90 35 C T 109661649 3123 75 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTTGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223843 109223844 109223844 exon 30 0.3333333 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTTGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 87 726 1 0.9814602 0.9907301 NA NA 0.8278638 0.9957131 NA NA 0.1721362 -0.01425285 NA 0.9117884 NA 0.07894166 NA FALSE NA 0.913 0.191 rs187996497 synonymous_variant LOW ACACB HGNC 85 ENST00000377854 25/51 rs187996497&COSM1177436 1 T:0.0006 T:0 T:0.0043 NA T:0 T:0 T:0 TCG C,T 4.118e-05 12:109223844 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 synonymous_variant 1.198946 0.94757 0.1352 0.562547 0.4447718 0 5.124327e-22 FALSE 4.46671e-05 ENSE00002277053_010 ENSE00002277053 010 12 109661575 109661744 + 45 90 35 A G 109661651 3124 77 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGGCGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223845 109223846 109223846 exon 32 0.3555556 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGGCGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 335 254 0.9735466 0.9993768 0.9864617 NA NA 0.8278638 0.9957131 NA NA 0.1456828 0.003663792 NA 0.9117884 NA 0.07467329 NA FALSE NA 1 9.17 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 1 unknown(0) NA GAC A,G 8.236e-06 12:109223846 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant 5.329381 0.99262 0.99377 0.562547 0.9982624 0 5.124327e-22 FALSE 4.06062e-06 ENSE00002277053_011 ENSE00002277053 011 12 109661575 109661744 + 45 90 35 G A 109661653 3125 79 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACATCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223847 109223848 109223848 exon 34 0.3777778 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACATCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 239 400 0.9878489 0.9982688 0.9930589 NA NA 0.8278638 0.9957131 NA NA 0.1599851 0.002555792 NA 0.9117884 NA 0.08127042 NA FALSE NA 1 9.689 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 1 unknown(0) NA CGT G,A 1.647e-05 12:109223848 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant 4.561593 0.9944 0.99355 0.562547 0.9946631 0 5.124327e-22 FALSE 1.62425e-05 ENSE00002277053_013 ENSE00002277053 013 12 109661575 109661744 + 45 90 35 A G 109661662 3127 88 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTGCTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223856 109223857 109223857 exon 43 0.4777778 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTGCTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 178 304 1 0.8607687 0.9303843 NA NA 0.8278638 0.9957131 NA NA 0.1721362 -0.1349444 NA 0.9117884 NA 0.0185959 NA FALSE NA 0.002 1.656 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 rs201850400 1 unknown(0) NA TAC A,G 1.647e-05 12:109223857 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant -2.237498 0.26143 0.13816 0.562547 0.196814 0 5.124327e-22 FALSE 1.2182e-05 ENSE00002277053_015 ENSE00002277053 015 12 109661575 109661744 + 45 90 35 C A 109661674 3129 100 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATAACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223868 109223869 109223869 exon -36 0.6111111 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATAACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 694 52 1 1 1 NA NA 0.8278638 0.9957131 NA NA 0.1721362 0.00428695 NA 0.9117884 NA 0.08821157 NA FALSE NA 1 7.571 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 1 unknown(0) NA TCA C,A 8.236e-06 12:109223869 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant 4.61532 0.9952 0.99684 0.562547 0.9676449 0 5.124327e-22 FALSE NA ENSE00002277053_016 ENSE00002277053 016 12 109661575 109661744 + 45 90 35 C T 109661676 3130 102 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCATGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223870 109223871 109223871 exon -34 0.6333333 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCATGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 646 333 0.9999363 1 0.9999681 NA NA 0.8278638 0.9957131 NA NA 0.1720725 0.00428695 NA 0.9117884 NA 0.08817971 NA FALSE NA 0.014 0.257 . synonymous_variant LOW ACACB HGNC 85 ENST00000377854 25/51 1 NA ACG C,T 6.589e-05 12:109223871 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 synonymous_variant 1.363719 0.78782 0.19948 0.562547 0.4882487 0 5.124327e-22 FALSE 3.65456e-05 ENSE00002277053_017 ENSE00002277053 017 12 109661575 109661744 + 45 90 35 A C 109661684 3131 110 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACACAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223878 109223879 109223879 exon -26 0.7222222 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACACAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 244 419 0.9981298 1 0.9990649 NA NA 0.8278638 0.9957131 NA NA 0.170266 0.00428695 NA 0.9117884 NA 0.08727647 NA FALSE NA 0.997 3.362 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 1 unknown(0) NA AAA A,C 8.236e-06 12:109223879 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant 2.275397 0.9689 0.96075 0.562547 0.9876088 0 5.124327e-22 FALSE 4.06058e-06 ENSE00002277053_018 ENSE00002277053 018 12 109661575 109661744 + 45 90 35 C T 109661688 3132 114 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTTGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223882 109223883 109223883 exon -22 0.7666667 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTTGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 16 85 1 1 1 NA NA 0.8278638 0.9957131 NA NA 0.1721362 0.00428695 NA 0.9117884 NA 0.08821157 NA FALSE NA 0.522 -0.487 . synonymous_variant LOW ACACB HGNC 85 ENST00000377854 25/51 1 NA TCG C,T 5.765e-05 12:109223883 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 synonymous_variant 2.698906 0.90302 0.32849 0.562547 0.7176483 0 5.124327e-22 FALSE 4.87274e-05 ENSE00002277053_019 ENSE00002277053 019 12 109661575 109661744 + 45 90 35 G A 109661689 3133 115 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCATGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223883 109223884 109223884 exon -21 0.7777778 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCATGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 498 84 1 1 1 NA NA 0.8278638 0.9957131 NA NA 0.1721362 0.00428695 NA 0.9117884 NA 0.08821157 NA FALSE NA 1 7.722 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 1 unknown(0) NA CGT G,A 3.295e-05 12:109223884 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant 6.854016 0.99519 0.99408 0.562547 0.999185 0 5.124327e-22 FALSE 3.24852e-05 ENSE00002277053_020 ENSE00002277053 020 12 109661575 109661744 + 45 90 35 A G 109661695 3134 121 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCGTGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223889 109223890 109223890 exon -15 0.8444444 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCGTGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 242 409 0.9936061 1 0.996803 NA NA 0.8278638 0.9957131 NA NA 0.1657423 0.00428695 NA 0.9117884 NA 0.08501461 NA FALSE NA 1 9.037 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 1 unknown(0) NA CAT A,G 4.118e-05 12:109223890 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant 4.622229 0.99388 0.9976 0.562547 0.9699574 0 5.124327e-22 FALSE 3.24852e-05 ENSE00002277053_023 ENSE00002277053 023 12 109661575 109661744 + 45 90 35 T A 109661701 3137 127 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGACCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA 109223769 109223939 109223895 109223896 109223896 exon -9 0.9111111 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGACCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 701 141 1 0.8774739 0.9387369 NA NA 0.8278638 0.9957131 NA NA 0.1721362 -0.1182392 NA 0.9117884 NA 0.0269485 NA FALSE NA 1 4.635 . missense_variant MODERATE ACACB HGNC 85 ENST00000377854 25/51 1 unknown(0) NA GTC T,A 1.647e-05 12:109223896 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 missense_variant 5.844525 0.98928 0.97943 0.562547 0.9857639 0 5.124327e-22 FALSE 1.21821e-05 ENSE00002277053_028 ENSE00002277053 028 12 109661575 109661744 + 45 90 35 A G 109661734 3142 160 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACGGCACTGACCA 109223769 109223939 109223928 109223929 109223929 downstr_intron 25 1.735294 TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACGGCACTGACCA TGTTCACATTTACTTTTCCTTGTTTCCCCTTTTCATTTCCCTTAGAAATTAATACTTTCGGAAACAACCATCTTCGACGTCCTGCCTACTTTCTTCTATCACGCAAACAAAGTCGTGTGCATGGCGTCCTTGGAGGTAAGCAGGAGAGGCCCAGAGAACAGCACTGACCA mutant NA NA NA NA NA 52 317 1 0.988271 0.9941355 NA NA 0.8278638 0.9957131 NA NA 0.1721362 -0.007442098 NA 0.9117884 NA 0.08234704 NA FALSE NA 0 -0.395 . intron_variant MODIFIER ACACB HGNC 85 ENST00000377854 25/50 1 NA CAG A,G 8.236e-06 12:109223929 ACACB HGNC Symbol protein_coding 151631 ENSG00000076555 ENSE00003732315 intron_variant -0.074164 0.18718 0.04317 0.062308 0.483091 0.0455939 5.124327e-22 FALSE 4.06121e-06 ENSE00002277287_000 ENSE00002277287 000 19 49979339 49979508 + 63 54 53 NA NA NA NA NA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 NA NA NA NA NA NA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA natural NA NA NA NA NA 45 282 1 0.9965532 0.9982766 NA NA 1 0.9965532 NA NA 0 0 NA 0.9982766 NA 0 NA FALSE NA NA NA NA NA NA FLT3LG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FLT3LG NA NA NA ENSG00000090554 ENSE00003564652 NA NA NA NA NA NA NA 0.9508287 TRUE NA ENSE00002277287_BRK ENSE00002277287 BRK 19 49979339 49979508 + 63 54 53 A,G; T,T NA NA NA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCTTTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACCCAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 NA NA NA NA NA NA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCTTTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACCCAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA control NA NA NA NA NA 12 402 0 0 0 NA NA 1 0.9965532 NA NA -1 -0.9965532 NA 0.9982766 NA -0.9982766 NA TRUE NA NA NA NA NA NA FLT3LG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FLT3LG NA NA NA ENSG00000090554 ENSE00003564652 NA NA NA NA NA NA NA 0.9508287 TRUE NA ENSE00002278000_000 ENSE00002278000 000 9 92011622 92011791 - 30 99 41 NA NA NA NA NA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 NA NA NA NA NA NA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA natural 23 13 0.9779654 0.9807937 0.9793796 360 1283 0.9951665 0.9998767 0.9975216 0.9779654 0.9807937 0.9951665 0.9998767 0 0 0 0 0.9793796 0.9975216 0 0 0 FALSE FALSE NA NA NA NA NA SEMA4D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA4D NA NA NA ENSG00000187764 ENSE00002278000 NA NA NA NA NA NA NA 0.9958252 TRUE NA ENSE00002278000_001 ENSE00002278000 001 9 92011622 92011791 - 30 99 41 G A 92011637 750 155 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGTACCTCCCTGTGCTCA 89396706 89396876 89396721 89396722 89396722 downstr_intron 15 1.517241 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGTACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 221 440 1 0.9987798 0.9993899 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.004833479 -0.00109688 0.9793796 0.9975216 NA 0.001868299 NA FALSE NA 0 0.145 . intron_variant MODIFIER SEMA4D HGNC 10732 ENST00000343780 8/20 1 NA TGC G,A 8.237e-06 9:89396722 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 intron_variant -0.007598 0.20357 0.06795 0.256867 0.5566671 0.0866805 0.9958252 TRUE 4.20327e-06 ENSE00002278000_002 ENSE00002278000 002 9 92011622 92011791 - 30 99 41 C G 92011643 751 149 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTCATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396727 89396728 89396728 downstr_intron 9 1.310345 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTCATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 73 197 1 0.9991963 0.9995982 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.004833479 -0.0006803664 0.9793796 0.9975216 NA 0.002076556 NA FALSE NA 0 -0.705 . intron_variant MODIFIER SEMA4D HGNC 10732 ENST00000343780 8/20 rs377622212 1 NA G:0 G:0.0001 TCA C,G 0.0001236 9:89396728 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 intron_variant -0.124766 0.19549 0.015 0.256867 0.5744452 0.0765674 0.9958252 TRUE 0.00017894 ENSE00002278000_004 ENSE00002278000 004 9 92011622 92011791 - 30 99 41 C T 92011667 753 125 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCAGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396751 89396752 89396752 exon -16 0.8484848 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCAGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 348 235 0.995786 0.9883834 0.9920847 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.0006195142 -0.0114933 0.9793796 0.9975216 NA -0.005436894 NA FALSE NA 0 -2.746 rs139396668 synonymous_variant LOW SEMA4D HGNC 10732 ENST00000343780 8/21 rs139396668 1 NA T:0 T:0.0001 CCG C,T 0.0001071 9:89396752 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 synonymous_variant 1.923252 0.16861 0.03746 0.706548 0.6279081 0 0.9958252 TRUE 0.000184188 ENSE00002278000_005 ENSE00002278000 005 9 92011622 92011791 - 30 99 41 G A 92011668 754 124 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCTGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396752 89396753 89396753 exon -17 0.8383838 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCTGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 133 79 1 1 1 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.004833479 0.0001232871 0.9793796 0.9975216 NA 0.002478383 NA FALSE NA 1 9.144 . missense_variant MODERATE SEMA4D HGNC 10732 ENST00000343780 8/21 1 deleterious(0) probably_damaging(1) NA CGG G,A 1.647e-05 9:89396753 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 missense_variant 6.936024 0.97404 0.96827 0.706548 0.9988877 0 0.9958252 TRUE 8.18023e-06 ENSE00002278000_006 ENSE00002278000 006 9 92011622 92011791 - 30 99 41 G A 92011679 755 113 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAATGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396763 89396764 89396764 exon -28 0.7272727 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAATGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 28 142 0.8606325 0.9978267 0.9292296 0.9779654 0.9807937 0.9951665 0.9998767 NA NA -0.134534 -0.002049996 0.9793796 0.9975216 NA -0.06829202 NA FALSE NA 0.04 -0.847 . synonymous_variant LOW SEMA4D HGNC 10732 ENST00000343780 8/21 1 NA CGT G,A 1.647e-05 9:89396764 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 synonymous_variant 1.445242 0.88085 0.17053 0.706548 0.6862468 0 0.9958252 TRUE 2.04038e-05 ENSE00002278000_007 ENSE00002278000 007 9 92011622 92011791 - 30 99 41 T C 92011680 756 112 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAGCGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396764 89396765 89396765 exon -29 0.7171717 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAGCGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 726 244 0.9985742 1 0.9992871 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.003407669 0.0001232871 0.9793796 0.9975216 NA 0.001765478 NA FALSE NA 0.773 3.7 . missense_variant MODERATE SEMA4D HGNC 10732 ENST00000343780 8/21 1 tolerated(0.06) possibly_damaging(0.891) NA GTT T,C 2.471e-05 9:89396765 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 missense_variant 3.729264 0.96639 0.75301 0.706548 0.997395 0 0.9958252 TRUE 1.63163e-05 ENSE00002278000_008 ENSE00002278000 008 9 92011622 92011791 - 30 99 41 A G 92011688 757 104 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGCGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396772 89396773 89396773 exon -37 0.6363636 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGCGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 75 97 1 0.9816294 0.9908147 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.004833479 -0.01824734 0.9793796 0.9975216 NA -0.006706928 NA FALSE NA 0.394 -0.158 . synonymous_variant LOW SEMA4D HGNC 10732 ENST00000343780 8/21 rs369736105 1 NA G:0.0002 G:0 CAC A,G 8.236e-06 9:89396773 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 synonymous_variant 0.000614 0.90719 0.32901 0.706548 0.526562 0 0.9958252 TRUE 4.07415e-06 ENSE00002278000_009 ENSE00002278000 009 9 92011622 92011791 - 30 99 41 C T 92011691 758 101 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTATGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396775 89396776 89396776 exon -40 0.6060606 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTATGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 347 602 0.9988079 1 0.999404 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.003641428 0.0001232871 0.9793796 0.9975216 NA 0.001882358 NA FALSE NA 1 0.526 . synonymous_variant LOW SEMA4D HGNC 10732 ENST00000343780 8/21 1 NA ACA C,T 8.236e-06 9:89396776 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 synonymous_variant 1.820443 0.92114 0.71017 0.706548 0.445284 0 0.9958252 TRUE 4.07256e-06 ENSE00002278000_011 ENSE00002278000 011 9 92011622 92011791 - 30 99 41 G A 92011694 760 98 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTATGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396778 89396779 89396779 exon -43 0.5757576 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTATGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 70 288 1 0.9475012 0.9737506 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.004833479 -0.05237551 0.9793796 0.9975216 NA -0.02377102 NA FALSE NA 0.001 -2.24 . synonymous_variant LOW SEMA4D HGNC 10732 ENST00000343780 8/21 rs372948016 1 NA A:0.0002 A:0 CGT G,A 8.236e-06 9:89396779 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 synonymous_variant 0.541276 0.89218 0.1657 0.706548 0.4328525 0 0.9958252 TRUE 8.14843e-06 ENSE00002278000_012 ENSE00002278000 012 9 92011622 92011791 - 30 99 41 G T 92011706 761 86 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCAACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396790 89396791 89396791 exon 45 0.4545455 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCAACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 810 135 0.9230864 1 0.9615432 0.9779654 0.9807937 0.9951665 0.9998767 NA NA -0.07208009 0.0001232871 0.9793796 0.9975216 NA -0.0359784 NA FALSE NA 0 0.052 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:89396791 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 synonymous_variant 0.146636 0.32115 0.17603 0.706548 0.4400705 0 0.9958252 TRUE 1.62917e-05 ENSE00002278000_013 ENSE00002278000 013 9 92011622 92011791 - 30 99 41 G A 92011706 762 86 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCTACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396790 89396791 89396791 exon 45 0.4545455 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCTACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 158 1134 1 0.9972553 0.9986276 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.004833479 -0.002621462 0.9793796 0.9975216 NA 0.001106009 NA FALSE NA 0 0.052 NA NA NA SEMA4D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA4D NA NA NA ENSG00000187764 ENSE00002278000 synonymous_variant 0.295383 0.29755 0.12815 0.706548 0.4425595 0 0.9958252 TRUE 4.07292e-06 ENSE00002278000_014 ENSE00002278000 014 9 92011622 92011791 - 30 99 41 C T 92011708 763 84 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCACCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396792 89396793 89396793 exon 43 0.4343434 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCACCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 849 1453 0.996019 0.9997337 0.9978764 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.0008524818 -0.0001430094 0.9793796 0.9975216 NA 0.0003547362 NA FALSE NA 0 -0.879 . missense_variant MODERATE SEMA4D HGNC 10732 ENST00000343780 8/21 COSM3908776 1 tolerated(0.22) benign(0.001) NA GCG C,T 8.236e-06 9:89396793 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 missense_variant 0.023432 0.27212 0.10359 0.706548 0.8432815 0 0.9958252 TRUE 2.03699e-05 ENSE00002278000_015 ENSE00002278000 015 9 92011622 92011791 - 30 99 41 C T 92011728 764 64 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCAGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396812 89396813 89396813 exon 23 0.2323232 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCAGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 452 23 0.9941855 1 0.9970928 0.9779654 0.9807937 0.9951665 0.9998767 NA NA -0.0009810101 0.0001232871 0.9793796 0.9975216 NA -0.0004288615 NA FALSE NA 1 4.453 . missense_variant MODERATE SEMA4D HGNC 10732 ENST00000343780 8/21 1 deleterious(0.02) probably_damaging(0.997) NA CCG C,T 1.647e-05 9:89396813 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 missense_variant 7.416621 0.97496 0.92665 0.706548 0.9994918 0 0.9958252 TRUE 4.08751e-06 ENSE00002278000_016 ENSE00002278000 016 9 92011622 92011791 - 30 99 41 G A 92011733 765 59 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTATATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396817 89396818 89396818 exon 18 0.1818182 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTATATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 36 1055 1 0.9983232 0.9991616 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.004833479 -0.001553519 0.9793796 0.9975216 NA 0.00163998 NA FALSE NA 1 0.64 . synonymous_variant LOW SEMA4D HGNC 10732 ENST00000343780 8/21 1 NA TGT G,A 2.471e-05 9:89396818 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 synonymous_variant 0.665989 0.92945 0.77481 0.706548 0.5824172 0 0.9958252 TRUE 1.63559e-05 ENSE00002278000_017 ENSE00002278000 017 9 92011622 92011791 - 30 99 41 T C 92011737 766 55 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAGCTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396821 89396822 89396822 exon 14 0.1414141 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAGCTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 158 17 0.9921482 1 0.9960741 0.9779654 0.9807937 0.9951665 0.9998767 NA NA -0.003018337 0.0001232871 0.9793796 0.9975216 NA -0.001447525 NA FALSE NA 1 7.426 . missense_variant MODERATE SEMA4D HGNC 10732 ENST00000343780 8/21 COSM753911 1 deleterious(0) probably_damaging(0.999) NA GTT T,C 8.237e-06 9:89396822 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 missense_variant 5.310178 0.97011 0.95683 0.706548 0.9988553 0 0.9958252 TRUE 4.09232e-06 ENSE00002278000_018 ENSE00002278000 018 9 92011622 92011791 - 30 99 41 G A 92011741 767 51 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCTTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396825 89396826 89396826 exon 10 0.1010101 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCTTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 73 681 0.9634725 0.9975026 0.9804875 0.9779654 0.9807937 0.9951665 0.9998767 NA NA -0.03169405 -0.00237413 0.9793796 0.9975216 NA -0.01703409 NA FALSE NA 1 9.14 . missense_variant MODERATE SEMA4D HGNC 10732 ENST00000343780 8/21 1 tolerated(0.38) possibly_damaging(0.612) NA AGG G,A 8.237e-06 9:89396826 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 missense_variant 3.012128 0.97567 0.97047 0.706548 0.9870009 0 0.9958252 TRUE 4.0996e-06 ENSE00002278000_019 ENSE00002278000 019 9 92011622 92011791 - 30 99 41 C T 92011745 768 47 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAATGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396829 89396830 89396830 exon 6 0.06060606 GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAATGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 540 924 0.9916659 0.9999588 0.9958124 0.9779654 0.9807937 0.9951665 0.9998767 NA NA -0.00350059 8.208962e-05 0.9793796 0.9975216 NA -0.00170925 NA FALSE NA 0.012 -1.388 . synonymous_variant LOW SEMA4D HGNC 10732 ENST00000343780 8/21 1 NA ACT C,T 8.237e-06 9:89396830 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 synonymous_variant 1.936487 0.88649 0.11357 0.706548 0.4863613 0 0.9958252 TRUE NA ENSE00002278000_021 ENSE00002278000 021 9 92011622 92011791 - 30 99 41 T C 92011767 770 25 GGGCTGGACGGTTGCTAATGGTGCGTTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396851 89396852 89396852 upstr_intron -17 -0.3902439 GGGCTGGACGGTTGCTAATGGTGCGTTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 60 254 0.986962 0.8918112 0.9393866 0.9779654 0.9807937 0.9951665 0.9998767 NA NA -0.008204562 -0.1080655 0.9793796 0.9975216 NA -0.05813506 NA FALSE NA 0 -2.374 . intron_variant MODIFIER SEMA4D HGNC 10732 ENST00000343780 7/20 1 NA ATG T,C 8.239e-06 9:89396852 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 intron_variant -0.377085 0.15756 0.02496 0.069865 0.474199 0.0893502 0.9958252 TRUE 4.24041e-06 ENSE00002278000_022 ENSE00002278000 022 9 92011622 92011791 - 30 99 41 C T 92011771 771 21 GGGCTGGACGGTTGCTAATGATGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396855 89396856 89396856 upstr_intron -21 -0.4878049 GGGCTGGACGGTTGCTAATGATGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 78 434 0.9669831 0.9956017 0.9812924 0.9779654 0.9807937 0.9951665 0.9998767 NA NA -0.02818339 -0.004275014 0.9793796 0.9975216 NA -0.0162292 NA FALSE NA 0 -1.496 . intron_variant MODIFIER SEMA4D HGNC 10732 ENST00000343780 7/20 1 NA ACC C,T 8.242e-06 9:89396856 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 intron_variant 0.428331 0.25568 0.03676 0.069865 0.7840447 0.0893502 0.9958252 TRUE 4.38935e-06 ENSE00002278000_023 ENSE00002278000 023 9 92011622 92011791 - 30 99 41 C A 92011781 772 11 GGGCTGGACGTTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA 89396706 89396876 89396865 89396866 89396866 upstr_intron -31 -0.7317073 GGGCTGGACGTTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA GGGCTGGACGGTTGCTAATGGTGCATTTCTCTTCCCTGCAGACAGAGTGCCTCAACTACATCCGGGTGCTGCAGCCACTCAGCGCCACTTCCCTTTACGTGTGTGGGACCAACGCATTCCAGCCGGCCTGTGACCACCTGGTAAGGCTGATGGGCACCTCCCTGTGCTCA mutant NA NA NA NA NA 497 145 0.9993828 1 0.9996914 0.9779654 0.9807937 0.9951665 0.9998767 NA NA 0.004216248 0.0001232871 0.9793796 0.9975216 NA 0.002169768 NA FALSE NA 0 -0.267 . intron_variant MODIFIER SEMA4D HGNC 10732 ENST00000343780 7/20 1 NA ACC C,A 8.25e-06 9:89396866 SEMA4D HGNC Symbol protein_coding 137343 ENSG00000187764 ENSE00002278000 intron_variant 0.109944 0.26993 0.08149 0.062308 0.5827725 0.0862078 0.9958252 TRUE NA ENSE00002278274_000 ENSE00002278274 000 19 50496084 50496253 - 33 93 44 NA NA NA NA NA TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 NA NA NA NA NA NA TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC natural 49 63 0.9978747 0.9903272 0.994101 3958 3878 0.9024085 0.9914961 0.9469523 0.9978747 0.9903272 0.9024085 0.9914961 0 0 0 0 0.994101 0.9469523 0 0 0 FALSE FALSE NA NA NA NA NA VRK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VRK3 NA NA NA ENSG00000105053 ENSE00003556855 NA NA NA NA NA NA NA 1.574145e-06 FALSE NA ENSE00002278274_001 ENSE00002278274 001 19 50496084 50496253 - 33 93 44 G A 50496095 3080 159 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCATTCTGGAAGATC 49992826 49992996 49992837 49992838 49992838 downstr_intron 22 1.6875 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCATTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 96 288 0.9942904 0.9697301 0.9820102 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09188184 -0.021766 0.994101 0.9469523 NA 0.03505792 NA FALSE NA 0 0.519 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA AGT G,A 8.237e-06 19:49992838 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 intron_variant -0.189376 0.11394 0.04613 0.295142 0.2931732 0.046323 1.574145e-06 FALSE NA ENSE00002278274_002 ENSE00002278274 002 19 50496084 50496253 - 33 93 44 G A 50496099 3081 155 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGTCCACTCTGGAAGATC 49992826 49992996 49992841 49992842 49992842 downstr_intron 18 1.5625 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGTCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 34 303 0.8866928 0.9961407 0.9414168 0.9978747 0.9903272 0.9024085 0.9914961 NA NA -0.01571572 0.004644609 0.994101 0.9469523 NA -0.005535555 NA FALSE NA 0.152 0.866 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA GGC G,A 8.237e-06 19:49992842 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 intron_variant 0.101956 0.13324 0.01375 0.295142 0.4205852 0.046323 1.574145e-06 FALSE 8.13577e-06 ENSE00002278274_004 ENSE00002278274 004 19 50496084 50496253 - 33 93 44 A G 50496141 3083 113 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTCGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992883 49992884 49992884 exon -25 0.7419355 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTCGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 671 546 1 0.9953801 0.99769 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09759148 0.00388394 0.994101 0.9469523 NA 0.05073771 NA FALSE NA 0.998 0.762 rs180811462 downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 rs180811462 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CAA A,G 1.647e-05 19:49992884 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 synonymous_variant -0.165775 0.96213 0.66442 0.732398 0.7233651 0 1.574145e-06 FALSE 1.21928e-05 ENSE00002278274_005 ENSE00002278274 005 19 50496084 50496253 - 33 93 44 A G 50496145 3084 109 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATACCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992887 49992888 49992888 exon -29 0.6989247 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATACCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 768 369 1 0.9995712 0.9997856 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09759148 0.008075028 0.994101 0.9469523 NA 0.05283325 NA FALSE NA 1 6.923 rs146530148 downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 rs146530148 1 NA G:0.0011 G:0 GAT A,G 5.765e-05 19:49992888 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 missense_variant 5.668044 0.98532 0.97706 0.732398 0.9985543 0 1.574145e-06 FALSE 2.84514e-05 ENSE00002278274_006 ENSE00002278274 006 19 50496084 50496253 - 33 93 44 T A 50496150 3085 104 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGATAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992892 49992893 49992893 exon -34 0.6451613 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGATAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 82 53 0.992755 1 0.9963775 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09034645 0.008503866 0.994101 0.9469523 NA 0.04942516 NA FALSE NA 1 0.64 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA TTT T,A 3.295e-05 19:49992893 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 missense_variant 1.930173 0.95496 0.69415 0.732398 0.9706285 0 1.574145e-06 FALSE 1.62586e-05 ENSE00002278274_007 ENSE00002278274 007 19 50496084 50496253 - 33 93 44 T A 50496163 3086 91 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAATTGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992905 49992906 49992906 exon -47 0.5053763 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAATTGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 367 3237 1 0.9965279 0.9982639 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09759148 0.005031758 0.994101 0.9469523 NA 0.05131162 NA FALSE NA 1 5.969 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA ATT T,A 8.236e-06 19:49992906 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 missense_variant 6.596569 0.98513 0.96678 0.732398 0.9930283 0 1.574145e-06 FALSE 4.06732e-06 ENSE00002278274_008 ENSE00002278274 008 19 50496084 50496253 - 33 93 44 T A 50496169 3087 85 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCTTGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992911 49992912 49992912 exon 41 0.4408602 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCTTGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 2089 214 0.9980997 1 0.9990498 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09569116 0.008503866 0.994101 0.9469523 NA 0.05209751 NA FALSE NA 1 5.969 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:49992912 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 missense_variant 6.646121 0.98493 0.96667 0.732398 0.9760584 0 1.574145e-06 FALSE 0.000101713 ENSE00002278274_009 ENSE00002278274 009 19 50496084 50496253 - 33 93 44 T G 50496169 3088 85 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCCTGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992911 49992912 49992912 exon 41 0.4408602 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCCTGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 123 241 1 0.9892092 0.9946046 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09759148 -0.002286965 0.994101 0.9469523 NA 0.04765226 NA FALSE NA 1 5.969 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003556855 missense_variant 5.933606 0.98506 0.96827 0.732398 0.9862677 0 0.0002572748 FALSE 4.06851e-06 ENSE00002278274_010 ENSE00002278274 010 19 50496084 50496253 - 33 93 44 T C 50496169 3089 85 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCGTGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992911 49992912 49992912 exon 41 0.4408602 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCGTGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 829 930 1 0.9935554 0.9967777 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09759148 0.002059231 0.994101 0.9469523 NA 0.04982535 NA FALSE NA 1 5.969 NA NA NA VRK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VRK3 NA NA NA ENSG00000105053 ENSE00003556855 missense_variant 5.225632 0.98459 0.96225 0.732398 0.9974707 0 1.574145e-06 FALSE 4.06851e-06 ENSE00002278274_011 ENSE00002278274 011 19 50496084 50496253 - 33 93 44 A G 50496174 3090 80 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTACGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992916 49992917 49992917 exon 36 0.3870968 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTACGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 296 524 0.9982615 0.9948341 0.9965478 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09585299 0.003337926 0.994101 0.9469523 NA 0.04959546 NA FALSE NA 0.678 -0.329 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA CAT A,G 8.236e-06 19:49992917 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 synonymous_variant -0.445672 0.90758 0.14747 0.732398 0.6014631 0 1.574145e-06 FALSE 4.06987e-06 ENSE00002278274_012 ENSE00002278274 012 19 50496084 50496253 - 33 93 44 C T 50496177 3091 77 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAATATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992919 49992920 49992920 exon 33 0.3548387 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAATATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 152 1116 0.9806177 1 0.9903088 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.07820914 0.008503866 0.994101 0.9469523 NA 0.0433565 NA FALSE NA 0.998 0.193 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 COSM3537084 1 NA ACT C,T 8.236e-06 19:49992920 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 synonymous_variant 1.868955 0.96175 0.68856 0.732398 0.7028757 0 1.574145e-06 FALSE 1.22169e-05 ENSE00002278274_014 ENSE00002278274 014 19 50496084 50496253 - 33 93 44 C T 50496198 3093 56 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTAGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992940 49992941 49992941 exon 12 0.1290323 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTAGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 193 311 0.9254444 0.886365 0.9059047 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.02303586 -0.1051312 0.994101 0.9469523 NA -0.04104766 NA FALSE NA 1 3.231 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA CCA C,T 8.236e-06 19:49992941 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 missense_variant 1.459911 0.98058 0.92416 0.732398 0.9929786 0 1.574145e-06 FALSE NA ENSE00002278274_015 ENSE00002278274 015 19 50496084 50496253 - 33 93 44 G C 50496200 3094 54 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCGTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992942 49992943 49992943 exon 10 0.1075269 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCGTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 781 55 1 0.999305 0.9996525 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09759148 0.007808909 0.994101 0.9469523 NA 0.05270019 NA FALSE NA 1 4.466 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA AGG G,C 3.295e-05 19:49992943 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 missense_variant 5.572558 0.98195 0.95867 0.732398 0.9981284 0 1.574145e-06 FALSE 2.04522e-05 ENSE00002278274_016 ENSE00002278274 016 19 50496084 50496253 - 33 93 44 C T 50496203 3095 51 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATACCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992945 49992946 49992946 exon 7 0.07526882 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATACCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 17 176 1 0.9982512 0.9991256 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09759148 0.00675503 0.994101 0.9469523 NA 0.05217325 NA FALSE NA 1 2.468 rs138533939 downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 rs138533939 1 T:0.0026 T:0.0083 T:0.0029 NA T:0 T:0 T:0 T:0.0066 T:0 GCA C,T 0.000626 19:49992946 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 missense_variant 5.858753 0.97935 0.87751 0.732398 0.9957105 0 1.574145e-06 FALSE 0.000519925 ENSE00002278274_017 ENSE00002278274 017 19 50496084 50496253 - 33 93 44 G C 50496214 3096 40 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCGCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992956 49992957 49992957 upstr_intron -5 -0.09090909 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCGCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 504 1130 0.9971903 0.9901647 0.9936775 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09478173 -0.001331409 0.994101 0.9469523 NA 0.04672516 NA FALSE NA 0.999 1.32 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA GGG G,C 4.118e-05 19:49992957 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 splice_region_variant 0.340058 0.5247 0.82433 0.106106 0.6479862 0.303864 1.574145e-06 FALSE 3.29234e-05 ENSE00002278274_018 ENSE00002278274 018 19 50496084 50496253 - 33 93 44 G A 50496215 3097 39 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCTCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992957 49992958 49992958 upstr_intron -6 -0.1136364 TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCTCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 558 525 0.8983008 0.9587312 0.928516 0.9978747 0.9903272 0.9024085 0.9914961 NA NA -0.00410777 -0.03276498 0.994101 0.9469523 NA -0.01843637 NA FALSE NA 0.997 0.586 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA GGG G,A 4.118e-05 19:49992958 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 splice_region_variant 0.614169 0.17326 0.32368 0.106106 0.5326144 0.185648 1.574145e-06 FALSE 2.88206e-05 ENSE00002278274_021 ENSE00002278274 021 19 50496084 50496253 - 33 93 44 G A 50496226 3100 28 TAGTCGTACTGCTCATGCAGACACTGATTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992968 49992969 49992969 upstr_intron -17 -0.3636364 TAGTCGTACTGCTCATGCAGACACTGATTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 486 593 0.9978636 1 0.9989318 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.0954551 0.008503866 0.994101 0.9469523 NA 0.05197948 NA FALSE NA 0.04 0.305 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA AGT G,A 8.237e-06 19:49992969 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 intron_variant 0.596424 0.21737 0.00421 0.106106 0.6960973 0.0476178 1.574145e-06 FALSE 4.14346e-06 ENSE00002278274_022 ENSE00002278274 022 19 50496084 50496253 - 33 93 44 G C 50496230 3101 24 TAGTCGTACTGCTCATGCAGACAGTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992972 49992973 49992973 upstr_intron -21 -0.4545455 TAGTCGTACTGCTCATGCAGACAGTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 149 1032 0.991408 0.8616726 0.9265403 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.0889995 -0.1298235 0.994101 0.9469523 NA -0.02041201 NA FALSE NA 0 -0.521 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA AGT G,C 8.237e-06 19:49992973 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 intron_variant -0.159224 0.16556 0.05277 0.106106 0.6659448 0.0476178 1.574145e-06 FALSE 8.30648e-06 ENSE00002278274_023 ENSE00002278274 023 19 50496084 50496253 - 33 93 44 G A 50496240 3102 14 TAGTCGTACTGCTTATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 49992982 49992983 49992983 upstr_intron -31 -0.6818182 TAGTCGTACTGCTTATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC mutant NA NA NA NA NA 38 16 1 1 1 0.9978747 0.9903272 0.9024085 0.9914961 NA NA 0.09759148 0.008503866 0.994101 0.9469523 NA 0.05304767 NA FALSE NA 0.012 0.968 . downstream_gene_variant MODIFIER VRK3 HGNC 18996 ENST00000599342 1 NA TGA G,A 8.238e-06 19:49992983 VRK3 HGNC Symbol protein_coding 49479 ENSG00000105053 ENSE00003556855 intron_variant -0.363116 0.13532 0.01742 0.106106 0.5436548 0.0476178 1.574145e-06 FALSE 1.25603e-05 ENSE00002278274_BRK ENSE00002278274 BRK 19 50496084 50496253 - 33 93 44 A,G; T,T NA NA NA TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCTTCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGCCAAGAGCCAGCTCCTGCCCACTCTGGAAGATC 49992826 49992996 NA NA NA NA NA NA TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCTTCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGCCAAGAGCCAGCTCCTGCCCACTCTGGAAGATC TAGTCGTACTGCTCATGCAGACACTGACTTGCTTCTTCCCCCAGCTGGATGCCCTGGAGTTCCTCCATGAGAATGAGTATGTTCATGGAAATGTGACAGCTGAAAATATCTTTGTGGATCCAGAGGACCAGAGTCAGGTAAGAGCCAGCTCCTGCCCACTCTGGAAGATC control NA NA NA NA NA 316 402 0 0 0 0.9978747 0.9903272 0.9024085 0.9914961 NA NA -0.9024085 -0.9914961 0.994101 0.9469523 NA -0.9469523 NA TRUE NA NA NA NA NA NA VRK3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VRK3 NA NA NA ENSG00000105053 ENSE00003556855 NA NA NA NA NA NA NA 1.574145e-06 FALSE NA ENSE00002279590_000 ENSE00002279590 000 16 70818631 70818800 - 48 63 59 NA NA NA NA NA TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG 70784727 70784897 NA NA NA NA NA NA TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG natural NA NA NA NA NA 158 39 0.9585748 1 0.9792874 NA NA 0.9585748 1 NA NA 0 0 NA 0.9792874 NA 0 NA FALSE NA NA NA NA NA NA VAC14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VAC14 NA NA NA ENSG00000103043 ENSE00003679249 NA NA NA NA NA NA NA 0.6297002 FALSE NA ENSE00002279590_005 ENSE00002279590 005 16 70818631 70818800 - 48 63 59 A G 70818666 2566 135 TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTCGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG 70784727 70784897 70784762 70784763 70784763 downstr_intron 13 1.276596 TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTCGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG mutant 15 10 0.9610096 0.85 0.9055048 NA NA NA NA NA NA NA 0.9585748 1 NA NA NA NA NA 0.9792874 NA NA NA NA NA 0 -0.126 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 3/17 1 NA CAA A,G 8.236e-06 16:70784763 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003679249 splice_region_variant -0.314382 0.21368 0.04659 0.156188 0.5658484 0.155319 0.6297002 FALSE NA ENSE00002279590_008 ENSE00002279590 008 16 70818631 70818800 - 48 63 59 A G 70818674 2569 127 TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATCTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG 70784727 70784897 70784770 70784771 70784771 downstr_intron 5 1.106383 TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATCTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG mutant 71 103 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9585748 1 NA NA NA NA NA 0.9792874 NA NA NA NA NA 0.005 0.717 . splice_region_variant&intron_variant&NMD_transcript_variant LOW VAC14 HGNC 25507 ENST00000568548 3/17 1 NA AAA A,G 8.236e-06 16:70784771 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003679249 missense_variant 1.17685 0.2314 0.04555 0.562547 0.9795326 0 0.6297002 FALSE 4.06398e-06 ENSE00002279590_019 ENSE00002279590 019 16 70818631 70818800 - 48 63 59 G A 70818765 2580 36 TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCTTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG 70784727 70784897 70784861 70784862 70784862 upstr_intron -24 -0.3898305 TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCTTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG TCTTGCATCCAACCGTGACCCTCGCCTCTGTGTCCCTCCCCTGTCTGTGCCTCTTGCAGCTGGCAGCCGACCCAGACCCCAATGTGAAAAGCGGATCTGAGCTCCTAGACCGCCTTTTAAAGGTATTTGTACTTTGTCCCCACTTTTATTTCTACAATCTGTTTCTCCCG mutant 11 31 0 0.0643871 0.03219355 NA NA NA NA NA NA NA 0.9585748 1 NA NA NA NA NA 0.9792874 NA NA NA NA NA 0.781 1.562 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 2/17 1 NA AGG G,A 1.647e-05 16:70784862 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003679249 intron_variant 0.359968 0.26401 0.47116 0.106106 0.7447879 0.111825 0.6297002 FALSE 2.03416e-05 ENSE00002279919_000 ENSE00002279919 000 12 101561838 101562007 - 36 87 47 NA NA NA NA NA GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 NA NA NA NA NA NA GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT natural 245 443 0.784707 0.8152208 0.7999639 4313 2974 0.9504635 0.8916199 0.9210417 0.784707 0.8152208 0.9504635 0.8916199 0 0 0 0 0.7999639 0.9210417 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A8 NA NA NA ENSG00000256870 ENSE00002279919 NA NA NA NA NA NA NA 2.85809e-11 FALSE NA ENSE00002279919_001 ENSE00002279919 001 12 101561838 101562007 - 36 87 47 C A 101561873 2601 135 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTTTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168094 101168095 101168095 downstr_intron 1 1.028571 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTTTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant 242 373 0 0 0 1402 687 0.00663826 0.1188164 0.06272735 0.784707 0.8152208 0.9504635 0.8916199 -0.784707 -0.8152208 -0.9438253 -0.7728035 0.7999639 0.9210417 -0.7999639 -0.8583144 0.05835047 TRUE TRUE 1 6.317 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:101168095 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 splice_donor_variant 5.322799 0.98039 0.9031 0.078448 0.9953746 0.987015 2.85809e-11 FALSE 2.14254e-05 ENSE00002279919_002 ENSE00002279919 002 12 101561838 101562007 - 36 87 47 C T 101561873 2602 135 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTATAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168094 101168095 101168095 downstr_intron 1 1.028571 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTATAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant 40 167 0 0 0 NA NA NA NA NA 0.784707 0.8152208 0.9504635 0.8916199 -0.784707 -0.8152208 NA NA 0.7999639 0.9210417 -0.7999639 NA NA NA TRUE 1 6.317 NA NA NA SLC5A8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A8 NA NA NA ENSG00000256870 ENSE00002279919 splice_donor_variant 5.267975 0.9798 0.88702 0.078448 0.9953748 0.987015 2.85809e-11 FALSE 1.71403e-05 ENSE00002279919_003 ENSE00002279919 003 12 101561838 101562007 - 36 87 47 T C 101561876 2603 132 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAGTTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168097 101168098 101168098 exon -3 0.9770115 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAGTTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 232 156 0.04457676 0.2326254 0.1386011 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.9058868 -0.6589946 0.7999639 0.9210417 NA -0.7824407 NA TRUE NA 0 0.159 . missense_variant&splice_region_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 COSM3954038 1 tolerated(0.51) benign(0.005) NA ATT T 8.24e-06 12:101168098 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant -1.869859 0.28279 0.06278 0.554377 0.4044861 0 2.85809e-11 FALSE 1.27625e-05 ENSE00002279919_004 ENSE00002279919 004 12 101561838 101562007 - 36 87 47 T G 101561882 2604 126 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCCACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168103 101168104 101168104 exon -9 0.908046 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCCACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 999 836 0.8040012 0.8753974 0.8396993 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.1464624 -0.01622255 0.7999639 0.9210417 NA -0.08134246 NA FALSE NA 1 6.494 . missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 1 deleterious(0.01) probably_damaging(0.997) NA TTG T 4.119e-05 12:101168104 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 6.110422 0.97643 0.89435 0.554377 0.9964537 0 2.85809e-11 FALSE 1.68626e-05 ENSE00002279919_005 ENSE00002279919 005 12 101561838 101562007 - 36 87 47 G A 101561884 2605 124 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGTCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168105 101168106 101168106 exon -11 0.8850575 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGTCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 56 527 0.963323 0.9795146 0.9714188 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.01285947 0.08789468 0.7999639 0.9210417 NA 0.05037707 NA FALSE NA 1 1.578 . missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 1 tolerated(0.3) benign(0.026) NA GGC G 8.239e-06 12:101168106 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 3.5256 0.95776 0.69811 0.554377 0.968677 0 2.85809e-11 FALSE NA ENSE00002279919_006 ENSE00002279919 006 12 101561838 101562007 - 36 87 47 A G 101561893 2606 115 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGCTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168114 101168115 101168115 exon -20 0.7816092 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGCTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 1547 935 0.996439 0.9921389 0.994289 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.04597546 0.100519 0.7999639 0.9210417 NA 0.07324722 NA FALSE NA 1 1.095 . missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 rs532876627 1 tolerated(0.1) benign(0.034) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAC A 8.238e-06 12:101168115 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 2.587274 0.94569 0.58194 0.554377 0.9919003 0 2.85809e-11 FALSE NA ENSE00002279919_009 ENSE00002279919 009 12 101561838 101562007 - 36 87 47 A G 101561912 2609 96 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGCTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168133 101168134 101168134 exon -39 0.5632184 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGCTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 229 68 0.8 0.8 0.8 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.1504635 -0.09161993 0.7999639 0.9210417 NA -0.1210417 NA FALSE NA 1 7.529 . missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 1 deleterious(0.01) possibly_damaging(0.819) NA AAC A 8.238e-06 12:101168134 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 6.587843 0.97596 0.91627 0.554377 0.9989976 0 2.85809e-11 FALSE 1.24889e-05 ENSE00002279919_010 ENSE00002279919 010 12 101561838 101562007 - 36 87 47 C A 101561913 2610 95 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTTTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168134 101168135 101168135 exon -40 0.5517241 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTTTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant 34 31 0.85 0.85 0.85 188 155 0.8935649 0.8 0.8467824 0.784707 0.8152208 0.9504635 0.8916199 0.06529301 0.03477915 -0.05689865 -0.09161993 0.7999639 0.9210417 0.05003608 -0.07425929 0.1242954 FALSE FALSE 0.998 0.2 . synonymous_variant LOW SLC5A8 HGNC 19119 ENST00000536262 11/15 rs531803099 1 NA ACA C 8.238e-06 12:101168135 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 synonymous_variant 2.400045 0.95144 0.58733 0.554377 0.7272396 0 2.85809e-11 FALSE NA ENSE00002279919_011 ENSE00002279919 011 12 101561838 101562007 - 36 87 47 C T 101561918 2611 90 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGAGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168139 101168140 101168140 exon 43 0.4942529 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGAGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 565 520 0.9703088 0.8317019 0.9010053 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.01984523 -0.05991803 0.7999639 0.9210417 NA -0.0200364 NA FALSE NA 1 6.317 . missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 rs373683550 1 deleterious(0) probably_damaging(0.989) NA T:0 T:0.0001 CCC C 8.238e-05 12:101168140 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 7.325603 0.97959 0.88838 0.554377 0.9989443 0 2.85809e-11 FALSE 7.92149e-05 ENSE00002279919_012 ENSE00002279919 012 12 101561838 101562007 - 36 87 47 A G 101561920 2612 88 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTACGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168141 101168142 101168142 exon 41 0.4712644 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTACGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 196 442 0.9997898 0.9934137 0.9966017 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.04932631 0.1017937 0.7999639 0.9210417 NA 0.07556001 NA FALSE NA 1 5.804 rs183627653 missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 rs183627653 1 deleterious(0) benign(0.051) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAT A 0.0001071 12:101168142 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 3.223562 0.96524 0.87146 0.554377 0.9751585 0 2.85809e-11 FALSE 7.08664e-05 ENSE00002279919_014 ENSE00002279919 014 12 101561838 101562007 - 36 87 47 C G 101561936 2614 72 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGCTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168157 101168158 101168158 exon 25 0.2873563 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGCTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 350 871 0.9986839 0.992191 0.9954374 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.04822036 0.100571 0.7999639 0.9210417 NA 0.07439569 NA FALSE NA 0.932 -0.02 . missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 1 tolerated(0.09) benign(0.012) NA ACC C 8.238e-06 12:101168158 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 2.193465 0.93925 0.54683 0.554377 0.9377686 0 2.85809e-11 FALSE 4.19597e-06 ENSE00002279919_015 ENSE00002279919 015 12 101561838 101562007 - 36 87 47 A T 101561940 2615 68 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGAATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168161 101168162 101168162 exon 21 0.2413793 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGAATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 921 564 0.9976623 0.9929083 0.9952853 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.04719881 0.1012883 0.7999639 0.9210417 NA 0.07424358 NA FALSE NA 0.999 0.218 NA NA NA SLC5A8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:101168162 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 synonymous_variant -0.713075 0.93879 0.47833 0.554377 0.6823658 0 2.85809e-11 FALSE 0.156067 ENSE00002279919_017 ENSE00002279919 017 12 101561838 101562007 - 36 87 47 C T 101561941 2617 67 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGATATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168162 101168163 101168163 exon 20 0.2298851 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGATATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 81 172 0.9994908 1 0.9997454 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.04902728 0.1083801 0.7999639 0.9210417 NA 0.07870368 NA FALSE NA 1 4.597 rs142082741 missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 rs142082741 1 deleterious(0) probably_damaging(0.993) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACC C 3.296e-05 12:101168163 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 6.945024 0.97959 0.85556 0.554377 0.9984181 0 2.85809e-11 FALSE 2.5385e-05 ENSE00002279919_018 ENSE00002279919 018 12 101561838 101562007 - 36 87 47 C A 101561942 2618 66 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTTGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168163 101168164 101168164 exon 19 0.2183908 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTTGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 491 736 0.8916277 0.8661305 0.8788791 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.05883582 -0.02548943 0.7999639 0.9210417 NA -0.04216263 NA FALSE NA 1 6.317 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:101168164 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 7.347164 0.98018 0.90428 0.554377 0.9961873 0 2.85809e-11 FALSE 4.23653e-06 ENSE00002279919_019 ENSE00002279919 019 12 101561838 101562007 - 36 87 47 C T 101561942 2619 66 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTAGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168163 101168164 101168164 exon 19 0.2183908 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTAGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 461 442 0.01794711 0.09857805 0.05826258 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.9325164 -0.7930419 0.7999639 0.9210417 NA -0.8627792 NA TRUE NA 1 6.317 NA NA NA SLC5A8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A8 NA NA NA ENSG00000256870 ENSE00002279919 missense_variant 7.045639 0.97959 0.88838 0.554377 0.9988302 0 2.85809e-11 FALSE 4.23653e-06 ENSE00002279919_020 ENSE00002279919 020 12 101561838 101562007 - 36 87 47 C T 101561948 2620 60 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCATATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168169 101168170 101168170 exon 13 0.1494253 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCATATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant 10 24 0.85 0.85 0.85 462 733 0.6732677 0.6122914 0.6427796 0.784707 0.8152208 0.9504635 0.8916199 0.06529301 0.03477915 -0.2771958 -0.2793285 0.7999639 0.9210417 0.05003608 -0.2782622 0.3282983 FALSE FALSE 1 2.967 . missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 rs369064667&COSM1240243 1 tolerated(1) benign(0.001) NA T:0.0002 T:0 ACG C 0.0001071 12:101168170 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 1.651721 0.94143 0.11484 0.487112 0.453734 0 2.85809e-11 FALSE 0.000115765 ENSE00002279919_022 ENSE00002279919 022 12 101561838 101562007 - 36 87 47 G T 101561954 2622 54 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCAATCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168175 101168176 101168176 exon 7 0.08045977 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCAATCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant 12 33 0.85 0.85 0.85 72 44 0.1613958 0.04748265 0.1044392 0.784707 0.8152208 0.9504635 0.8916199 0.06529301 0.03477915 -0.7890678 -0.8441373 0.7999639 0.9210417 0.05003608 -0.8166025 0.8666386 TRUE FALSE 0.975 1.301 . missense_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 1 tolerated(0.17) benign(0.168) NA AGT G 8.242e-06 12:101168176 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 2.32211 0.94864 0.58216 0.487112 0.9897253 0 2.85809e-11 FALSE NA ENSE00002279919_023 ENSE00002279919 023 12 101561838 101562007 - 36 87 47 C T 101561960 2623 48 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGACAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168181 101168182 101168182 exon 1 0.01149425 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGACAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 713 957 0.1371637 0.01570924 0.07643646 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.8132999 -0.8759107 0.7999639 0.9210417 NA -0.8446053 NA TRUE NA 1 6.317 . missense_variant&splice_region_variant MODERATE SLC5A8 HGNC 19119 ENST00000536262 11/15 rs568574418 1 deleterious(0) probably_damaging(0.982) NA GCC C 8.244e-06 12:101168182 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 missense_variant 6.185859 0.97959 0.88838 0.487112 0.9993317 0 2.85809e-11 FALSE 3.62086e-05 ENSE00002279919_024 ENSE00002279919 024 12 101561838 101562007 - 36 87 47 A G 101561963 2624 45 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGCAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168184 101168185 101168185 upstr_intron -3 -0.04255319 GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGCAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 1112 157 0.9783671 0.8687726 0.9235699 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.0279036 -0.02284729 0.7999639 0.9210417 NA 0.002528152 NA FALSE NA 0.001 0.078 . splice_region_variant&intron_variant LOW SLC5A8 HGNC 19119 ENST00000536262 10/14 1 NA TAC A 0.0001731 12:101168185 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 splice_region_variant 0.06443 0.32763 0.06867 0.053691 0.6064709 0.114355 2.85809e-11 FALSE 0.000153977 ENSE00002279919_025 ENSE00002279919 025 12 101561838 101562007 - 36 87 47 C T 101561975 2625 33 GTTTCGATTTGAGATTGCTAATTGCTGACGTTATATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168196 101168197 101168197 upstr_intron -15 -0.2978723 GTTTCGATTTGAGATTGCTAATTGCTGACGTTATATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant 25 22 0.85 0.85 0.85 NA NA NA NA NA 0.784707 0.8152208 0.9504635 0.8916199 0.06529301 0.03477915 NA NA 0.7999639 0.9210417 0.05003608 NA NA NA FALSE 0 -1.254 . intron_variant MODIFIER SLC5A8 HGNC 19119 ENST00000536262 10/14 rs375202408 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 ACA C 0.0008013 12:101168197 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 intron_variant -0.161117 0.32634 0.03525 0.053691 0.4361331 0.0610109 2.85809e-11 FALSE 0.000760027 ENSE00002279919_026 ENSE00002279919 026 12 101561838 101562007 - 36 87 47 C T 101561978 2626 30 GTTTCGATTTGAGATTGCTAATTGCTGACATTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168199 101168200 101168200 upstr_intron -18 -0.3617021 GTTTCGATTTGAGATTGCTAATTGCTGACATTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 1924 445 0.9194279 0.9086855 0.9140567 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.03103564 0.01706556 0.7999639 0.9210417 NA -0.006985037 NA FALSE NA 0 0.202 rs147770628 intron_variant MODIFIER SLC5A8 HGNC 19119 ENST00000536262 10/14 rs147770628 1 T:0.0020 T:0.0068 T:0.0014 NA T:0 T:0 T:0 T:0.005 T:0 ACG C 0.0003882 12:101168200 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 intron_variant -0.167372 0.31258 0.05011 0.053691 0.5562269 0.0610109 2.85809e-11 FALSE 0.000382184 ENSE00002279919_027 ENSE00002279919 027 12 101561838 101562007 - 36 87 47 G T 101561979 2627 29 GTTTCGATTTGAGATTGCTAATTGCTGAAGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168200 101168201 101168201 upstr_intron -19 -0.3829787 GTTTCGATTTGAGATTGCTAATTGCTGAAGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 727 1611 0.004159467 0.002505631 0.003332549 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.9463041 -0.8891143 0.7999639 0.9210417 NA -0.9177092 NA TRUE NA 0 -0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:101168201 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 intron_variant -0.456944 0.33888 0.10593 0.053691 0.5381731 0.0610109 2.85809e-11 FALSE 0 ENSE00002279919_028 ENSE00002279919 028 12 101561838 101562007 - 36 87 47 G A 101561979 2628 29 GTTTCGATTTGAGATTGCTAATTGCTGATGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168200 101168201 101168201 upstr_intron -19 -0.3829787 GTTTCGATTTGAGATTGCTAATTGCTGATGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 177 466 0.9693939 0.9975029 0.9834484 0.784707 0.8152208 0.9504635 0.8916199 NA NA 0.01893035 0.105883 0.7999639 0.9210417 NA 0.06240665 NA FALSE NA 0 -0.072 NA NA NA SLC5A8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC5A8 NA NA NA ENSG00000256870 ENSE00002279919 intron_variant -0.093945 0.3408 0.04801 0.053691 0.6216916 0.0610109 2.85809e-11 FALSE 0.000256663 ENSE00002279919_029 ENSE00002279919 029 12 101561838 101562007 - 36 87 47 A G 101561993 2629 15 GTTTCGATTTGAGACTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 101168214 101168215 101168215 upstr_intron -33 -0.6808511 GTTTCGATTTGAGACTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT mutant NA NA NA NA NA 426 1057 0.8 0.8303507 0.8151754 0.784707 0.8152208 0.9504635 0.8916199 NA NA -0.1504635 -0.06126923 0.7999639 0.9210417 NA -0.1058664 NA FALSE NA 0.004 0.516 . intron_variant MODIFIER SLC5A8 HGNC 19119 ENST00000536262 10/14 rs200813587 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAT A 8.306e-06 12:101168215 SLC5A8 HGNC Symbol protein_coding 54914 ENSG00000256870 ENSE00002279919 intron_variant 0.237701 0.31208 0.04778 0.053691 0.4303902 0.0463838 2.85809e-11 FALSE 5.6236e-06 ENSE00002279919_BRK ENSE00002279919 BRK 12 101561838 101562007 - 36 87 47 A,G; T,T NA NA NA GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTTTGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTCCAAGTACAAAGAATGAATATGCTTGAGGATTACTT 101168059 101168229 NA NA NA NA NA NA GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTTTGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTCCAAGTACAAAGAATGAATATGCTTGAGGATTACTT GTTTCGATTTGAGATTGCTAATTGCTGACGTTGTATTATTTTTGTAGGCAGCACTCAGCGTATTTGGTATGGTTGGTGGACCACTTATGGGCCTGTTCGCTTTGGGCATTTTGGTTCCCTTTGCCAACTCAATTGTAAGTACAAAGAATGAATATGCTTGAGGATTACTT control 218 193 0 0 0 70 194 0.0799502 0.002611645 0.04128092 0.784707 0.8152208 0.9504635 0.8916199 -0.784707 -0.8152208 -0.8705133 -0.8890083 0.7999639 0.9210417 -0.7999639 -0.8797608 0.07979689 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00002279919 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00002281957_000 ENSE00002281957 000 22 44372576 44372745 + 54 72 44 NA NA NA NA NA GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA 43976695 43976865 NA NA NA NA NA NA GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA natural NA NA NA NA NA 1809 3299 0.9922286 0.966758 0.9794933 NA NA 0.9922286 0.966758 NA NA 0 0 NA 0.9794933 NA 0 NA FALSE NA NA NA NA NA NA SAMM50 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAMM50 NA NA NA ENSG00000100347 ENSE00003582608 NA NA NA NA NA NA NA 0.0007271145 FALSE NA ENSE00002281957_002 ENSE00002281957 002 22 44372576 44372745 + 54 72 44 A G 44372589 1319 14 GTTATCTAATAGAGCTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA 43976695 43976865 43976708 43976709 43976709 upstr_intron -41 -0.7407407 GTTATCTAATAGAGCTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA mutant NA NA NA NA NA 296 114 1 1 1 NA NA 0.9922286 0.966758 NA NA 0.00777142 0.033242 NA 0.9794933 NA 0.02050671 NA FALSE NA 0 -1.282 . intron_variant MODIFIER SAMM50 HGNC 24276 ENST00000396202 7/13 1 NA AAC A,G 8.237e-06 22:43976709 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003582608 intron_variant 0.111672 0.11495 0.00546 0.295142 0.2604006 0.0476782 0.0007271145 FALSE NA ENSE00002281957_007 ENSE00002281957 007 22 44372576 44372745 + 54 72 44 A G 44372636 1324 61 GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCGTGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA 43976695 43976865 43976755 43976756 43976756 exon 7 0.09722222 GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCGTGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA mutant NA NA NA NA NA 40 480 0.9774263 0.9975037 0.987465 NA NA 0.9922286 0.966758 NA NA -0.01480224 0.03074566 NA 0.9794933 NA 0.00797171 NA FALSE NA 1 6.532 rs138855728 missense_variant MODERATE SAMM50 HGNC 24276 ENST00000396202 8/14 rs138855728 1 benign(0.004) NA G:0.0009 G:0 CAT A,G 9.06e-05 22:43976756 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003582608 missense_variant 1.686489 0.99128 0.98505 0.732398 0.9395093 0 0.0007271145 FALSE 8.1584e-05 ENSE00002281957_014 ENSE00002281957 014 22 44372576 44372745 + 54 72 44 C T 44372687 1331 112 GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGTTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA 43976695 43976865 43976806 43976807 43976807 exon -15 0.8055556 GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGTTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA mutant NA NA NA NA NA 326 227 0.8972593 0.9493136 0.9232864 NA NA 0.9922286 0.966758 NA NA -0.0949693 -0.0174444 NA 0.9794933 NA -0.05620685 NA FALSE NA 1 1.013 . synonymous_variant LOW SAMM50 HGNC 24276 ENST00000396202 8/14 1 NA GCT C,T 8.236e-06 22:43976807 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003582608 synonymous_variant 1.818875 0.97661 0.9072 0.732398 0.7644155 0 0.0007271145 FALSE 4.09031e-06 ENSE00002281957_015 ENSE00002281957 015 22 44372576 44372745 + 54 72 44 A G 44372697 1332 122 GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAGCCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA 43976695 43976865 43976816 43976817 43976817 exon -5 0.9444444 GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAGCCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA GTTATCTAATAGAACTTCTTAAAGTGAAAATATCCCCATTCAAATTTCTTTCAGCACGCCATGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGTAGTGTTGTTTCACCTGTGACCCCTGCAGGGTGAGGGGAGCCA mutant NA NA NA NA NA 19 153 0 0.002398005 0.001199003 NA NA 0.9922286 0.966758 NA NA -0.9922286 -0.96436 NA 0.9794933 NA -0.9782943 NA TRUE NA 1 8.388 . missense_variant MODERATE SAMM50 HGNC 24276 ENST00000396202 8/14 1 benign(0.006) NA AAC A,G 2.471e-05 22:43976817 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003582608 missense_variant 1.566429 0.99272 0.99456 0.732398 0.9839537 0 0.0007271145 FALSE 8.18987e-06 ENSE00002282107_000 ENSE00002282107 000 5 112128095 112128264 + 48 84 38 NA NA NA NA NA ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 NA NA NA NA NA NA ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT natural NA NA NA NA NA 2746 2841 0.9847712 0.9304539 0.9576126 NA NA 0.9847712 0.9304539 NA NA 0 0 NA 0.9576126 NA 0 NA FALSE NA NA NA NA NA NA APC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APC NA NA NA ENSG00000134982 ENSE00002282107 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002282107_001 ENSE00002282107 001 5 112128095 112128264 + 48 84 38 T A 112128117 952 23 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTTGTTATGTTTTTATTAATAATAT 112792397 112792567 112792419 112792420 112792420 upstr_intron -26 -0.5208333 ATATTATTAATAAAAACATAACAAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 412 442 0.9787504 0.9956818 0.9872161 NA NA 0.9847712 0.9304539 NA NA -0.006020791 0.06522782 NA 0.9576126 NA 0.02960352 NA FALSE NA 0.009 4.699 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 6/15 1 NA CTA T,A 8.247e-06 5:112792420 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 1.009664 0.28573 0.91538 0.106106 0.695477 0.499405 0.9999999 TRUE 4.30771e-06 ENSE00002282107_002 ENSE00002282107 002 5 112128095 112128264 + 48 84 38 A G 112128118 953 24 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATCAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792420 112792421 112792421 upstr_intron -25 -0.5 ATATTATTAATAAAAACATAACTGATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 13 849 1 0.9977729 0.9988864 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06731892 NA 0.9576126 NA 0.04127387 NA FALSE NA 0.02 0.902 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 6/15 1 NA TAA A,G 8.245e-06 5:112792421 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 0.493223 0.24721 0.36112 0.106106 0.6563288 0.0455939 0.9999999 TRUE 8.55264e-06 ENSE00002282107_004 ENSE00002282107 004 5 112128095 112128264 + 48 84 38 G A 112128147 955 53 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTTTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792449 112792450 112792450 exon 5 0.05952381 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAAAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 34 233 1 0.9435258 0.9717629 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.01307186 NA 0.9576126 NA 0.01415034 NA FALSE NA 1 6.842 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 1 possibly_damaging(0.832) NA AGA G,A 8.237e-06 5:112792450 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 6.328774 0.98766 0.97505 0.732398 0.9941215 0 0.9999999 TRUE 4.07485e-06 ENSE00002282107_006 ENSE00002282107 006 5 112128095 112128264 + 48 84 38 G T 112128163 957 69 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGATGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792465 112792466 112792466 exon 21 0.25 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCATCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 1346 1141 0.9982515 0.9998614 0.9990564 NA NA 0.9847712 0.9304539 NA NA 0.01348029 0.06940743 NA 0.9576126 NA 0.04144386 NA FALSE NA 1 0.466 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 1 benign(0.01) NA AGC G,T 8.237e-06 5:112792466 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 1.101206 0.94491 0.771 0.732398 0.9516545 0 0.9999999 TRUE 4.06832e-06 ENSE00002282107_007 ENSE00002282107 007 5 112128095 112128264 + 48 84 38 A C 112128166 958 72 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATGTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792468 112792469 112792469 exon 24 0.2857143 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCACATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 103 410 1 1 1 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06954606 NA 0.9576126 NA 0.04238744 NA FALSE NA 1 1.951 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 1 probably_damaging(0.995) NA AAA A,C 2.471e-05 5:112792469 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 4.977882 0.97701 0.91119 0.732398 0.9975197 0 0.9999999 TRUE 1.62705e-05 ENSE00002282107_008 ENSE00002282107 008 5 112128095 112128264 + 48 84 38 C T 112128169 959 75 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCAATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792471 112792472 112792472 exon 27 0.3214286 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATTGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 422 377 0.8471069 0.7927338 0.8199203 NA NA 0.9847712 0.9304539 NA NA -0.1376643 -0.1377202 NA 0.9576126 NA -0.1376922 NA FALSE NA 0.985 0.097 NA NA NA APC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:112792472 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 synonymous_variant 1.981378 0.9493 0.449 0.732398 0.6798342 0 0.9999999 TRUE 1.22038e-05 ENSE00002282107_010 ENSE00002282107 010 5 112128095 112128264 + 48 84 38 G A 112128170 961 76 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTTGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792472 112792473 112792473 exon 28 0.3333333 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCAAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 219 694 0.9907083 0.9964687 0.9935885 NA NA 0.9847712 0.9304539 NA NA 0.00593715 0.06601478 NA 0.9576126 NA 0.03597597 NA FALSE NA 1 6.842 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 COSM1165377&CM023006 1 possibly_damaging(0.634) NA CGA G,A 8.237e-06 5:112792473 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 5.61447 0.98786 0.97539 0.732398 0.9993343 0 0.9999999 TRUE 4.06732e-06 ENSE00002282107_011 ENSE00002282107 011 5 112128095 112128264 + 48 84 38 C T 112128185 962 91 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACAAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792487 112792488 112792488 exon -42 0.5119048 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTTGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 187 264 0.9997797 0.9894991 0.9946394 NA NA 0.9847712 0.9304539 NA NA 0.01500854 0.0590452 NA 0.9576126 NA 0.03702687 NA FALSE NA 1 3.858 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 COSM1696039 1 possibly_damaging(0.798) NA TCG C,T 8.237e-06 5:112792488 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 6.900835 0.98025 0.93383 0.732398 0.9990253 0 0.9999999 TRUE 1.21978e-05 ENSE00002282107_012 ENSE00002282107 012 5 112128095 112128264 + 48 84 38 G A 112128186 963 92 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATATGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792488 112792489 112792489 exon -41 0.5238095 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCATATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 146 354 1 1 1 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06954606 NA 0.9576126 NA 0.04238744 NA FALSE NA 1 6.842 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 COSM1432152 1 possibly_damaging(0.568) NA CGT G,A 6.59e-05 5:112792489 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 6.811774 0.98786 0.97539 0.732398 0.999479 0 0.9999999 TRUE 4.47165e-05 ENSE00002282107_013 ENSE00002282107 013 5 112128095 112128264 + 48 84 38 G A 112128192 964 98 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTTGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792494 112792495 112792495 exon -35 0.5952381 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACAACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 60 597 1 0.8179044 0.9089522 NA NA 0.9847712 0.9304539 NA NA 0.01522882 -0.1125495 NA 0.9576126 NA -0.04866035 NA FALSE NA 1 6.842 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 rs201727026&COSM3393074 1 benign(0.024) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGA G,A 2.471e-05 5:112792495 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 3.62739 0.98786 0.97539 0.732398 0.9986907 0 0.9999999 TRUE 1.62599e-05 ENSE00002282107_014 ENSE00002282107 014 5 112128095 112128264 + 48 84 38 T G 112128200 965 106 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTACAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792502 112792503 112792503 exon -27 0.6904762 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTGTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 137 3373 1 0.9986 0.9993 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06814609 NA 0.9576126 NA 0.04168745 NA FALSE NA 1 2.192 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:112792503 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 1.7544 0.97522 0.86283 0.732398 0.9932646 0 0.9999999 TRUE 4.06484e-06 ENSE00002282107_015 ENSE00002282107 015 5 112128095 112128264 + 48 84 38 T C 112128200 966 106 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAGAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792502 112792503 112792503 exon -27 0.6904762 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTCTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 573 87 0.9198436 1 0.9599218 NA NA 0.9847712 0.9304539 NA NA -0.06492757 0.06954606 NA 0.9576126 NA 0.002309247 NA FALSE NA 1 2.192 NA NA NA APC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APC NA NA NA ENSG00000134982 ENSE00002282107 synonymous_variant 0.236886 0.97248 0.77357 0.732398 0.8053531 0 0.9999999 TRUE 2.03242e-05 ENSE00002282107_018 ENSE00002282107 018 5 112128095 112128264 + 48 84 38 C G 112128208 969 114 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGCGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792510 112792511 112792511 exon -19 0.7857143 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCGCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 394 35 1 1 1 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06954606 NA 0.9576126 NA 0.04238744 NA FALSE NA 1 1.653 . synonymous_variant LOW APC HGNC 583 ENST00000457016 7/16 1 NA CCC C,G 8.237e-06 5:112792511 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 synonymous_variant 1.520603 0.96663 0.87223 0.732398 0.7081654 0 0.9999999 TRUE 4.06514e-06 ENSE00002282107_019 ENSE00002282107 019 5 112128095 112128264 + 48 84 38 G C 112128212 970 118 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGGTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792514 112792515 112792515 exon -15 0.8333333 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAACCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 561 1572 1 0.9999758 0.9999879 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06952185 NA 0.9576126 NA 0.04237533 NA FALSE NA 1 3.863 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 1 benign(0) NA AGC G,C 8.237e-06 5:112792515 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 2.864778 0.97774 0.92778 0.732398 0.9886045 0 0.9999999 TRUE 1.62621e-05 ENSE00002282107_022 ENSE00002282107 022 5 112128095 112128264 + 48 84 38 C G 112128222 973 128 ATTTTTATACCCACAAACAAGAAAGGCAATTTACTAACCTCTCCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792524 112792525 112792525 exon -5 0.952381 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGGAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 141 452 1 1 1 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06954606 NA 0.9576126 NA 0.04238744 NA FALSE NA 1 5.494 . missense_variant MODERATE APC HGNC 583 ENST00000457016 7/16 1 benign(0.044) NA GCA C,G 8.237e-06 5:112792525 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 missense_variant 2.941873 0.98913 0.99198 0.732398 0.9904027 0 0.9999999 TRUE 4.06633e-06 ENSE00002282107_023 ENSE00002282107 023 5 112128095 112128264 + 48 84 38 T C 112128241 974 147 ATTTTTATACCCACAAACAAGAAGGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792543 112792544 112792544 downstr_intron 15 1.405405 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCCTTCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 1022 1010 0.9937503 0.9944232 0.9940867 NA NA 0.9847712 0.9304539 NA NA 0.008979142 0.06396924 NA 0.9576126 NA 0.03647419 NA FALSE NA 0.001 1.306 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 7/15 1 NA CTT T,C 3.295e-05 5:112792544 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 0.274088 0.67366 0.23233 0.088506 0.5531092 0.0463572 0.9999999 TRUE 1.22065e-05 ENSE00002282107_024 ENSE00002282107 024 5 112128095 112128264 + 48 84 38 T C 112128243 975 149 ATTTTTATACCCACAAACAAGGAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792545 112792546 112792546 downstr_intron 17 1.459459 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTCCTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 1217 498 0.9997631 0.9996823 0.9997227 NA NA 0.9847712 0.9304539 NA NA 0.01499187 0.06922836 NA 0.9576126 NA 0.04211011 NA FALSE NA 0.051 3.593 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 7/15 1 NA TTC T,C 1.647e-05 5:112792546 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 0.50316 0.79159 0.76268 0.088506 0.6376771 0.553478 0.9999999 TRUE 8.13829e-06 ENSE00002282107_025 ENSE00002282107 025 5 112128095 112128264 + 48 84 38 C T 112128244 976 150 ATTTTTATACCCACAAACAAAAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792546 112792547 112792547 downstr_intron 18 1.486486 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTTTTGTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 214 176 1 0.830056 0.915028 NA NA 0.9847712 0.9304539 NA NA 0.01522882 -0.100398 NA 0.9576126 NA -0.04258457 NA FALSE NA 0.005 -0.566 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 7/15 1 NA TCT C,T 8.237e-06 5:112792547 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 0.174612 0.20602 0.00495 0.088506 0.5709869 0.0463572 0.9999999 TRUE 4.0702e-06 ENSE00002282107_026 ENSE00002282107 026 5 112128095 112128264 + 48 84 38 G C 112128247 977 153 ATTTTTATACCCACAAAGAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792549 112792550 112792550 downstr_intron 21 1.567568 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTCTTTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 55 453 1 1 1 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06954606 NA 0.9576126 NA 0.04238744 NA FALSE NA 0 -0.093 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 7/15 1 NA TGT G,C 2.471e-05 5:112792550 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 0.720464 0.18955 0.14798 0.088506 0.6327018 0.0456277 0.9999999 TRUE 2.03593e-05 ENSE00002282107_027 ENSE00002282107 027 5 112128095 112128264 + 48 84 38 T C 112128249 978 155 ATTTTTATACCCACAGACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792551 112792552 112792552 downstr_intron 23 1.621622 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTCTGTGGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 1459 403 0.9658263 0.9987628 0.9822946 NA NA 0.9847712 0.9304539 NA NA -0.01894491 0.0683089 NA 0.9576126 NA 0.02468199 NA FALSE NA 0.063 1.048 rs75111475 intron_variant MODIFIER APC HGNC 583 ENST00000457016 7/15 rs75111475 1 C:0.0030 C:0.0106 C:0.0014 NA C:0 C:0 C:0 C:0.0125 C:0 TTT T,C 0.001268 5:112792552 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 1.126282 0.29451 0.52138 0.088506 0.767756 0.0456277 0.9999999 TRUE 0.000859225 ENSE00002282107_028 ENSE00002282107 028 5 112128095 112128264 + 48 84 38 G A 112128253 979 159 ATTTTTATACCTACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792555 112792556 112792556 downstr_intron 27 1.72973 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTAGGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 16 72 1 1 1 NA NA 0.9847712 0.9304539 NA NA 0.01522882 0.06954606 NA 0.9576126 NA 0.04238744 NA FALSE NA 0 -0.149 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 7/15 1 NA TGG G,A 8.237e-06 5:112792556 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 0.878655 0.1102 0.00452 0.088506 0.8082518 0.0456277 0.9999999 TRUE 4.078e-06 ENSE00002282107_029 ENSE00002282107 029 5 112128095 112128264 + 48 84 38 G T 112128254 980 160 ATTTTTATACACACAAACAAGAAAGGCAATTTACTAACCTCTGCTTCTGTTGCTTGGGACTGTAAAAGCTGTCGTATACGAAGTATGTCCTTTTCGATTTGCTGAATTCTGGCTATTCTTCGCTAAAATAAAACAAGAAACCTAATTAGTTATGTTTTTATTAATAATAT 112792397 112792567 112792556 112792557 112792557 downstr_intron 28 1.756757 ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGTGTATAAAAAT ATATTATTAATAAAAACATAACTAATTAGGTTTCTTGTTTTATTTTAGCGAAGAATAGCCAGAATTCAGCAAATCGAAAAGGACATACTTCGTATACGACAGCTTTTACAGTCCCAAGCAACAGAAGCAGAGGTTAGTAAATTGCCTTTCTTGTTTGTGGGTATAAAAAT mutant NA NA NA NA NA 342 294 0.9859648 0.9016063 0.9437856 NA NA 0.9847712 0.9304539 NA NA 0.001193665 -0.0288476 NA 0.9576126 NA -0.01382697 NA FALSE NA 0 0.924 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 7/15 1 NA GGG G,T 1.647e-05 5:112792557 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00002282107 intron_variant 0.812636 0.14431 0.02295 0.088506 0.7418271 0.0456277 0.9999999 TRUE 1.22348e-05 ENSE00002282659_000 ENSE00002282659 000 16 89805257 89805426 - 33 93 44 NA NA NA NA NA TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 NA NA NA NA NA NA TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG natural NA NA NA NA NA 2965 886 0.957122 0.9955168 0.9763194 NA NA 0.957122 0.9955168 NA NA 0 0 NA 0.9763194 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003672662 NA NA NA NA NA NA NA NA NA NA ENSE00002282659_005 ENSE00002282659 005 16 89805257 89805426 - 33 93 44 C A 89805284 3466 143 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACTTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738875 89738876 89738876 downstr_intron 6 1.1875 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACTTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 510 110 0.9993527 1 0.9996763 NA NA 0.957122 0.9955168 NA NA 0.04223067 0.004483163 NA 0.9763194 NA 0.02335692 NA FALSE NA 0 -3.159 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003672662 missense_variant 0.172308 0.19132 0.30121 0.67177 0.5760135 0 0.008565806 FALSE 2.03051e-05 ENSE00002282659_031 ENSE00002282659 031 16 89805257 89805426 - 33 93 44 G C 89805349 3492 78 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTGTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738940 89738941 89738941 exon 34 0.3655914 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTGTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 11 151 1 1 1 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004483163 NA 0.9763194 NA 0.02368058 NA FALSE NA 0 -0.211 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003672662 missense_variant 0.286231 0.26526 0.4359 0.67177 0.8604175 0 0.994933 TRUE 4.06055e-06 ENSE00002282659_039 ENSE00002282659 039 16 89805257 89805426 - 33 93 44 G C 89805374 3500 53 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCGGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738965 89738966 89738966 exon 9 0.09677419 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCGGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 52 51 0.8 1 0.9 NA NA 0.957122 0.9955168 NA NA -0.157122 0.004483163 NA 0.9763194 NA -0.07631942 NA FALSE NA 0 -1.375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003672662 missense_variant 0.098837 0.22875 0.19788 0.67177 0.7504845 0 8.657011e-06 FALSE 8.12163e-06 ENSE00002282659_043 ENSE00002282659 043 16 89805257 89805426 - 33 93 44 C A 89805382 3504 45 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGTGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738973 89738974 89738974 exon 1 0.01075269 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGTGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 82 121 1 1 1 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004483163 NA 0.9763194 NA 0.02368058 NA FALSE NA 0.953 0.954 NA NA NA ZNF276 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA ENSG00000158805 ENSE00003672662 missense_variant 2.936426 0.94654 0.85101 0.67177 0.9964716 0 0.0002572748 FALSE 4.06078e-06 ENSE00002284074_000 ENSE00002284074 000 4 184207076 184207245 + 44 93 33 NA NA NA NA NA TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 NA NA NA NA NA NA TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC natural 31 42 0.9827866 0.994162 0.9884743 2018 2113 0.9214786 0.7329046 0.8271916 0.9827866 0.994162 0.9214786 0.7329046 0 0 0 0 0.9884743 0.8271916 0 0 0 FALSE FALSE NA NA NA NA NA WWC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WWC2 NA NA NA ENSG00000151718 ENSE00003679720 NA NA NA NA NA NA NA 2.481128e-05 FALSE NA ENSE00002284074_001 ENSE00002284074 001 4 184207076 184207245 + 44 93 33 T A 184207102 1685 27 TGTTTGATATGCAGTGATTTTTTTTTAAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183285948 183285949 183285949 upstr_intron -18 -0.3863636 TGTTTGATATGCAGTGATTTTTTTTTAAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 701 118 0.994368 0.9348607 0.9646143 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07288932 0.2019561 0.9884743 0.8271916 NA 0.1374227 NA FALSE NA 1 3.468 . intron_variant MODIFIER WWC2 HGNC 24148 ENST00000504005 12/15 rs201183650 1 A:0.0010 A:0 A:0 NA A:0.005 A:0 A:0 TTA T,A 0.0002754 4:183285949 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 intron_variant 0.346702 0.54064 0.96119 0.099367 0.677588 0.124772 2.481128e-05 FALSE NA ENSE00002284074_002 ENSE00002284074 002 4 184207076 184207245 + 44 93 33 A T 184207103 1686 28 TGTTTGATATGCAGTGATTTTTTTTTTTAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183285949 183285950 183285950 upstr_intron -17 -0.3636364 TGTTTGATATGCAGTGATTTTTTTTTTTAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 51 382 0.9607148 0.9865979 0.9736563 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.03923618 0.2536932 0.9884743 0.8271916 NA 0.1464647 NA FALSE NA 0 -1.772 . intron_variant MODIFIER WWC2 HGNC 24148 ENST00000504005 12/15 rs575991515 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TAA A,T 2.501e-05 4:183285950 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 intron_variant -0.539958 0.1379 0.01747 0.099367 0.3156489 0.145892 2.481128e-05 FALSE NA ENSE00002284074_003 ENSE00002284074 003 4 184207076 184207245 + 44 93 33 G A 184207112 1687 37 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTATTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183285958 183285959 183285959 upstr_intron -8 -0.1590909 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTATTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 349 387 0.9901958 1 0.9950979 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.06871719 0.2670954 0.9884743 0.8271916 NA 0.1679063 NA FALSE NA 0 -0.155 . splice_region_variant&intron_variant LOW WWC2 HGNC 24148 ENST00000504005 12/15 1 NA TGT G,A 8.279e-06 4:183285959 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 splice_region_variant 0.718121 0.2626 0.0406 0.099367 0.5951853 0.168359 2.481128e-05 FALSE NA ENSE00002284074_004 ENSE00002284074 004 4 184207076 184207245 + 44 93 33 C A 184207117 1688 42 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCAAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183285963 183285964 183285964 upstr_intron -3 -0.04545455 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCAAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 296 1000 0.06958852 0.01142962 0.04050907 0.9827866 0.994162 0.9214786 0.7329046 NA NA -0.8518901 -0.721475 0.9884743 0.8271916 NA -0.7866826 NA TRUE NA 1 4.156 . splice_region_variant&intron_variant LOW WWC2 HGNC 24148 ENST00000504005 12/15 rs200505031 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CCA C,A 8.264e-06 4:183285964 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 splice_region_variant 2.095176 0.82006 0.9398 0.156188 0.8652514 0.522174 2.481128e-05 FALSE NA ENSE00002284074_005 ENSE00002284074 005 4 184207076 184207245 + 44 93 33 C T 184207149 1689 74 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACTCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183285995 183285996 183285996 exon 30 0.3225806 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACTCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 143 130 1 0.9913586 0.9956793 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07852136 0.258454 0.9884743 0.8271916 NA 0.1684877 NA FALSE NA 0.001 -1.21 NA NA NA WWC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:183285996 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 synonymous_variant 2.113931 0.51821 0.0763 0.706548 0.5652129 0 2.481128e-05 FALSE 0.000100018 ENSE00002284074_007 ENSE00002284074 007 4 184207076 184207245 + 44 93 33 A G 184207158 1691 83 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAGAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286004 183286005 183286005 exon 39 0.4193548 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAGAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 130 360 1 0.9972032 0.9986016 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07852136 0.2642986 0.9884743 0.8271916 NA 0.17141 NA FALSE NA 1 3.525 . synonymous_variant LOW WWC2 HGNC 24148 ENST00000504005 13/16 1 NA AAA A,G 3.3e-05 4:183286005 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 synonymous_variant 0.094799 0.97446 0.86607 0.706548 0.6487295 0 2.481128e-05 FALSE 1.81166e-05 ENSE00002284074_008 ENSE00002284074 008 4 184207076 184207245 + 44 93 33 A C 184207164 1692 89 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCCCTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286010 183286011 183286011 exon 45 0.483871 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCCCTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 310 235 1 0.9925239 0.996262 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07852136 0.2596193 0.9884743 0.8271916 NA 0.1690703 NA FALSE NA 0.005 -1.231 . synonymous_variant LOW WWC2 HGNC 24148 ENST00000504005 13/16 1 NA CAC A,C 8.251e-06 4:183286011 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 synonymous_variant 0.016367 0.92038 0.16362 0.706548 0.6934384 0 2.481128e-05 FALSE 4.56396e-06 ENSE00002284074_009 ENSE00002284074 009 4 184207076 184207245 + 44 93 33 T A 184207166 1693 91 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACAGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286012 183286013 183286013 exon -47 0.5053763 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACAGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 491 90 0.9989898 0.9982387 0.9986143 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07751121 0.265334 0.9884743 0.8271916 NA 0.1714226 NA FALSE NA 0.979 5.079 . missense_variant MODERATE WWC2 HGNC 24148 ENST00000504005 13/16 1 tolerated(0.06) probably_damaging(0.968) NA CTG T,A 8.251e-06 4:183286013 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 missense_variant 6.650705 0.9811 0.95636 0.706548 0.9938712 0 2.481128e-05 FALSE NA ENSE00002284074_010 ENSE00002284074 010 4 184207076 184207245 + 44 93 33 T C 184207170 1694 95 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTCGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286016 183286017 183286017 exon -43 0.5483871 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTCGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 1558 562 0.9961236 0.9993199 0.9977218 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07464494 0.2664153 0.9884743 0.8271916 NA 0.1705301 NA FALSE NA 1 0.712 . synonymous_variant LOW WWC2 HGNC 24148 ENST00000504005 13/16 1 NA TTG T,C 4.127e-05 4:183286017 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 synonymous_variant -0.056034 0.95949 0.83629 0.706548 0.5489754 0 2.481128e-05 FALSE 3.20683e-05 ENSE00002284074_011 ENSE00002284074 011 4 184207076 184207245 + 44 93 33 G A 184207171 1695 96 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTATGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286017 183286018 183286018 exon -42 0.5591398 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTATGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 742 111 0.9955021 0.9823292 0.9889156 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07402341 0.2494245 0.9884743 0.8271916 NA 0.161724 NA FALSE NA 1 5.787 . missense_variant MODERATE WWC2 HGNC 24148 ENST00000504005 13/16 1 deleterious(0) probably_damaging(0.937) NA TGT G,A 3.301e-05 4:183286018 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 missense_variant 6.335377 0.97973 0.96717 0.706548 0.9990201 0 2.481128e-05 FALSE 2.2876e-05 ENSE00002284074_012 ENSE00002284074 012 4 184207076 184207245 + 44 93 33 C T 184207184 1696 109 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCATCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286030 183286031 183286031 exon -29 0.6989247 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCATCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 133 855 0.9971814 0.9568516 0.9770165 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07570281 0.2239469 0.9884743 0.8271916 NA 0.1498249 NA FALSE NA 0.326 1.118 . missense_variant MODERATE WWC2 HGNC 24148 ENST00000504005 13/16 1 tolerated(0.09) benign(0.394) NA ACC C,T 8.273e-06 4:183286031 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 missense_variant 3.125064 0.8596 0.58386 0.706548 0.9963563 0 2.481128e-05 FALSE NA ENSE00002284074_013 ENSE00002284074 013 4 184207076 184207245 + 44 93 33 C T 184207185 1697 110 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACTGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286031 183286032 183286032 exon -28 0.7096774 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACTGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 92 25 0.9995518 1 0.9997759 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07807318 0.2670954 0.9884743 0.8271916 NA 0.1725843 NA FALSE NA 0.002 -1.206 rs143833862 synonymous_variant LOW WWC2 HGNC 24148 ENST00000504005 13/16 rs143833862 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 CCG C,T 4.136e-05 4:183286032 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 synonymous_variant 2.527242 0.73725 0.06712 0.706548 0.7175447 0 2.481128e-05 FALSE NA ENSE00002284074_014 ENSE00002284074 014 4 184207076 184207245 + 44 93 33 G A 184207186 1698 111 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCAAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286032 183286033 183286033 exon -27 0.7204301 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCAAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 55 1099 0.9532752 0.9447842 0.9490297 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.03179652 0.2118795 0.9884743 0.8271916 NA 0.121838 NA FALSE NA 1 8.752 . missense_variant MODERATE WWC2 HGNC 24148 ENST00000504005 13/16 1 deleterious(0) probably_damaging(0.998) NA CGA G,A 6.621e-05 4:183286033 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 missense_variant 7.860886 0.99136 0.99087 0.706548 0.9994062 0 2.481128e-05 FALSE NA ENSE00002284074_015 ENSE00002284074 015 4 184207076 184207245 + 44 93 33 C T 184207192 1699 117 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCTGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286038 183286039 183286039 exon -21 0.7849462 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCTGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 263 899 0.9861465 0.9971562 0.9916513 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.06466785 0.2642516 0.9884743 0.8271916 NA 0.1644597 NA FALSE NA 1 2.515 rs148189381 missense_variant MODERATE WWC2 HGNC 24148 ENST00000504005 13/16 rs148189381 1 deleterious(0) benign(0.082) NA T:0 T:0.0001 CCG C,T 3.316e-05 4:183286039 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 missense_variant 5.997058 0.97504 0.93285 0.706548 0.9993565 0 2.481128e-05 FALSE 4.56204e-05 ENSE00002284074_016 ENSE00002284074 016 4 184207076 184207245 + 44 93 33 G A 184207193 1700 118 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCACAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286039 183286040 183286040 exon -20 0.7956989 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCACAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 247 719 0.9782223 0.9807242 0.9794733 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.05674371 0.2478196 0.9884743 0.8271916 NA 0.1522816 NA FALSE NA 1 8.752 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:183286040 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 missense_variant 7.591196 0.9857 0.98746 0.706548 0.9994557 0 2.481128e-05 FALSE NA ENSE00002284074_017 ENSE00002284074 017 4 184207076 184207245 + 44 93 33 G T 184207193 1701 118 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCTCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286039 183286040 183286040 exon -20 0.7956989 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCTCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 140 922 0.9616489 0.9583458 0.9599973 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.04017024 0.2254412 0.9884743 0.8271916 NA 0.1328057 NA FALSE NA 1 8.752 NA NA NA WWC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WWC2 NA NA NA ENSG00000151718 ENSE00003679720 missense_variant 7.325067 0.98595 0.989 0.706548 0.9981579 0 2.481128e-05 FALSE NA ENSE00002284074_018 ENSE00002284074 018 4 184207076 184207245 + 44 93 33 C T 184207194 1702 119 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGTAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286040 183286041 183286041 exon -19 0.8064516 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGTAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 1048 295 0.8023039 0.8 0.8011519 0.9827866 0.994162 0.9214786 0.7329046 NA NA -0.1191748 0.06709536 0.9884743 0.8271916 NA -0.0260397 NA FALSE NA 0.967 0.121 . synonymous_variant LOW WWC2 HGNC 24148 ENST00000504005 13/16 1 NA GCA C,T 8.294e-06 4:183286041 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 synonymous_variant 2.113902 0.95523 0.75643 0.706548 0.6556831 0 2.481128e-05 FALSE 1.54159e-05 ENSE00002284074_019 ENSE00002284074 019 4 184207076 184207245 + 44 93 33 G A 184207203 1703 128 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGAGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 183286049 183286050 183286050 exon -10 0.9032258 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGAGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 1061 662 0.9133476 0.9987835 0.9560656 0.9827866 0.994162 0.9214786 0.7329046 NA NA -0.008131063 0.2658789 0.9884743 0.8271916 NA 0.1288739 NA FALSE NA 0.991 0.233 rs142719833 synonymous_variant LOW WWC2 HGNC 24148 ENST00000504005 13/16 rs142719833 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGG G,A 7.496e-05 4:183286050 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 synonymous_variant 1.417621 0.9293 0.67032 0.706548 0.6414245 0 2.481128e-05 FALSE 5.96723e-05 ENSE00002284074_021 ENSE00002284074 021 4 184207076 184207245 + 44 93 33 G A 184207233 1705 158 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACATCCCACTGTCCC 183285922 183286092 183286079 183286080 183286080 downstr_intron 21 1.65625 TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACATCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC mutant NA NA NA NA NA 321 44 0.9948902 1 0.9974451 0.9827866 0.994162 0.9214786 0.7329046 NA NA 0.07341159 0.2670954 0.9884743 0.8271916 NA 0.1702535 NA FALSE NA 0 -0.363 rs189537402 intron_variant MODIFIER WWC2 HGNC 24148 ENST00000504005 13/15 rs189537402 1 A:0.0038 A:0.0129 A:0 NA A:0.001 A:0 A:0.001 A:0.0161 A:0.0001 CGT G,A 0.001084 4:183286080 WWC2 HGNC Symbol protein_coding 221484 ENSG00000151718 ENSE00003679720 intron_variant -0.028251 0.07155 0.00431 0.156188 0.6104076 0.156866 2.481128e-05 FALSE 0.0011592 ENSE00002284074_BRK ENSE00002284074 BRK 4 184207076 184207245 + 44 93 33 A,G; T,T NA NA NA TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCTTTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGCCATGTATTCCCTCAGCCACGTCCCACTGTCCC 183285922 183286092 NA NA NA NA NA NA TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCTTTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGCCATGTATTCCCTCAGCCACGTCCCACTGTCCC TGTTTGATATGCAGTGATTTTTTTTTTAAATCTTTTGTTGCCAGTTAAATCGGAGTGACAGTGACAGTTCAACCCTGGCTAAAAAATCACTGTTTGTGAGAAACTCCACCGAACGCCGCAGTTTGAGGGTCAAAAGGGTATGTATTCCCTCAGCCACGTCCCACTGTCCC control NA NA NA NA NA 398 363 0.1281977 0.07712269 0.1026602 0.9827866 0.994162 0.9214786 0.7329046 NA NA -0.793281 -0.655782 0.9884743 0.8271916 NA -0.7245315 NA TRUE NA NA NA NA NA NA WWC2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WWC2 NA NA NA ENSG00000151718 ENSE00003679720 NA NA NA NA NA NA NA 2.481128e-05 FALSE NA ENSE00002284279_000 ENSE00002284279 000 1 209936795 209936964 + 42 96 32 NA NA NA NA NA AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 NA NA NA NA NA NA AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT natural NA NA NA NA NA 1776 1656 0.9250256 0.872156 0.8985908 NA NA 0.9250256 0.872156 NA NA 0 0 NA 0.8985908 NA 0 NA FALSE NA NA NA NA NA NA TRAF3IP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF3IP3 NA NA NA ENSG00000009790 ENSE00002284279 NA NA NA NA NA NA NA 1.376492e-06 FALSE NA ENSE00002284279_001 ENSE00002284279 001 1 209936795 209936964 + 42 96 32 C G 209936809 4990 15 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGCGGGCACAAAGTGCAAGACGGTAAGATTAACCT 209763449 209763619 209763463 209763464 209763464 upstr_intron -28 -0.6428571 AGGTTAATCTTACCGTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 367 646 0.9979056 0.9997551 0.9988304 NA NA 0.9250256 0.872156 NA NA 0.07288005 0.1275991 NA 0.8985908 NA 0.1002396 NA FALSE NA 0 -1.039 . intron_variant MODIFIER TRAF3IP3 HGNC 30766 ENST00000367024 7/16 1 NA CCT C,G 8.236e-06 1:209763464 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 intron_variant 0.664308 0.16978 0.03647 0.295142 0.7137635 0.232371 1.376492e-06 FALSE NA ENSE00002284279_002 ENSE00002284279 002 1 209936795 209936964 + 42 96 32 C A 209936824 4991 30 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGCGGTCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763478 209763479 209763479 upstr_intron -13 -0.2857143 AGGTTAATCTTACCCTCTTGCACTTTGTGACCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 27 250 1 0.9298285 0.9649142 NA NA 0.9250256 0.872156 NA NA 0.07497442 0.0576725 NA 0.8985908 NA 0.06632346 NA FALSE NA 0.002 0.473 . intron_variant MODIFIER TRAF3IP3 HGNC 30766 ENST00000367024 7/16 1 NA GCC C,A 8.236e-06 1:209763479 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 intron_variant 0.191518 0.15808 0.09091 0.295142 0.6626879 0.22452 1.376492e-06 FALSE 4.062e-06 ENSE00002284279_004 ENSE00002284279 004 1 209936795 209936964 + 42 96 32 G A 209936827 4993 33 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGTGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763481 209763482 209763482 upstr_intron -10 -0.2142857 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCACACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant 21 41 0.9491183 0.9169132 0.9330158 61 383 1 1 1 NA NA 0.9250256 0.872156 NA NA 0.07497442 0.127844 NA 0.8985908 NA 0.1014092 NA FALSE NA 0 -0.514 . intron_variant MODIFIER TRAF3IP3 HGNC 30766 ENST00000367024 7/16 1 NA CGC G,A 5.765e-05 1:209763482 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 intron_variant 0.455469 0.14727 0.02396 0.295142 0.6543461 0.210718 1.376492e-06 FALSE 9.34215e-05 ENSE00002284279_005 ENSE00002284279 005 1 209936795 209936964 + 42 96 32 C T 209936830 4994 36 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGATGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763484 209763485 209763485 upstr_intron -7 -0.1428571 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCATCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 1098 118 1 1 1 NA NA 0.9250256 0.872156 NA NA 0.07497442 0.127844 NA 0.8985908 NA 0.1014092 NA FALSE NA 0 -0.064 . splice_region_variant&intron_variant LOW TRAF3IP3 HGNC 30766 ENST00000367024 7/16 1 NA ACC C,T 8.236e-06 1:209763485 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 splice_region_variant 0.693558 0.16124 0.01587 0.295142 0.6404329 0.221293 1.376492e-06 FALSE 4.06108e-06 ENSE00002284279_006 ENSE00002284279 006 1 209936795 209936964 + 42 96 32 C G 209936832 4995 38 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGCGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763486 209763487 209763487 upstr_intron -5 -0.0952381 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCGCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 204 683 0.9693338 0.9746429 0.9719883 NA NA 0.9250256 0.872156 NA NA 0.04430826 0.1024869 NA 0.8985908 NA 0.07339758 NA FALSE NA 0 0.155 . splice_region_variant&intron_variant LOW TRAF3IP3 HGNC 30766 ENST00000367024 7/16 1 NA CCC C,G 8.236e-06 1:209763487 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 splice_region_variant 0.644393 0.19155 0.06764 0.295142 0.7053298 0.222055 1.376492e-06 FALSE 4.06121e-06 ENSE00002284279_009 ENSE00002284279 009 1 209936795 209936964 + 42 96 32 G A 209936839 4998 45 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCTTCCTGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763493 209763494 209763494 exon 3 0.03125 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAAGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 261 79 1 1 1 NA NA 0.9250256 0.872156 NA NA 0.07497442 0.127844 NA 0.8985908 NA 0.1014092 NA FALSE NA 1 0.641 . splice_region_variant&synonymous_variant LOW TRAF3IP3 HGNC 30766 ENST00000367024 8/17 1 NA AGG G,A 8.236e-06 1:209763494 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 splice_region_variant 1.27504 0.94295 0.48552 0.706548 0.7240134 0 1.376492e-06 FALSE 4.06114e-06 ENSE00002284279_010 ENSE00002284279 010 1 209936795 209936964 + 42 96 32 C T 209936846 4999 52 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTATAGGGCCTCCTGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763500 209763501 209763501 exon 10 0.1041667 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTATAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant 54 11 0.85 0.9621885 0.9060942 NA NA NA NA NA NA NA 0.9250256 0.872156 NA NA NA NA NA 0.8985908 NA NA NA NA NA 0.981 3.701 . stop_gained HIGH TRAF3IP3 HGNC 30766 ENST00000367024 8/17 1 NA HC ACA C,T 8.236e-06 1:209763501 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 stop_gained 12.94616 0.97817 0.8927 0.706548 0.9985237 0 1.376492e-06 FALSE 8.12196e-06 ENSE00002284279_014 ENSE00002284279 014 1 209936795 209936964 + 42 96 32 G A 209936912 5003 118 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGTCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763566 209763567 209763567 exon -21 0.7916667 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGACCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 141 553 1 1 1 NA NA 0.9250256 0.872156 NA NA 0.07497442 0.127844 NA 0.8985908 NA 0.1014092 NA FALSE NA 0.963 3.218 . missense_variant MODERATE TRAF3IP3 HGNC 30766 ENST00000367024 8/17 1 tolerated(0.11) benign(0.102) NA GGC G,A 8.236e-06 1:209763567 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 missense_variant 2.965059 0.96327 0.83002 0.706548 0.9910944 0 1.376492e-06 FALSE 8.12387e-06 ENSE00002284279_015 ENSE00002284279 015 1 209936795 209936964 + 42 96 32 C T 209936914 5004 120 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAAGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763568 209763569 209763569 exon -19 0.8125 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCTTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 422 196 1 0.8 0.9 NA NA 0.9250256 0.872156 NA NA 0.07497442 -0.07215596 NA 0.8985908 NA 0.001409231 NA FALSE NA 0.027 -1.412 rs17015169 synonymous_variant LOW TRAF3IP3 HGNC 30766 ENST00000367024 8/17 rs17015169&COSM3997197&COSM3997196 1 T:0.3806 T:0.6906 T:0.2752 NA T:0.3075 T:0.2306 T:0.2658 T:0.6389 T:0.2209 CCT C,T 0.287 1:209763569 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 synonymous_variant 1.966422 0.94921 0.08468 0.706548 0.6010352 0 1.376492e-06 FALSE 0.275335 ENSE00002284279_016 ENSE00002284279 016 1 209936795 209936964 + 42 96 32 T C 209936917 5005 123 AGCTTTGTTCAAAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCGGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763571 209763572 209763572 exon -16 0.84375 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCCGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 310 34 1 1 1 NA NA 0.9250256 0.872156 NA NA 0.07497442 0.127844 NA 0.8985908 NA 0.1014092 NA FALSE NA 0.992 0.075 . synonymous_variant LOW TRAF3IP3 HGNC 30766 ENST00000367024 8/17 1 NA CTG T,C 1.647e-05 1:209763572 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 synonymous_variant 0.464591 0.96651 0.64133 0.706548 0.7291901 0 1.376492e-06 FALSE 8.12519e-06 ENSE00002284279_018 ENSE00002284279 018 1 209936795 209936964 + 42 96 32 G A 209936943 5007 149 AGCTTTGTTCAAAAAGAATTTTATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763597 209763598 209763598 downstr_intron 11 1.354839 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATAAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 352 284 1 0.996578 0.998289 NA NA 0.9250256 0.872156 NA NA 0.07497442 0.124422 NA 0.8985908 NA 0.09969823 NA FALSE NA 0.068 -0.101 . intron_variant MODIFIER TRAF3IP3 HGNC 30766 ENST00000367024 8/16 1 NA TGA G,A 8.237e-06 1:209763598 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 intron_variant 1.660395 0.19673 0.04153 0.099367 0.7383041 0.260073 1.376492e-06 FALSE NA ENSE00002284279_019 ENSE00002284279 019 1 209936795 209936964 + 42 96 32 T C 209936953 5008 159 AGCTTTGTTCAGAAAGAATTTCATTCCCTTACCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCCTGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 209763607 209763608 209763608 downstr_intron 21 1.677419 AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTCTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT mutant NA NA NA NA NA 38 91 1 1 1 NA NA 0.9250256 0.872156 NA NA 0.07497442 0.127844 NA 0.8985908 NA 0.1014092 NA FALSE NA 0 -0.212 . intron_variant MODIFIER TRAF3IP3 HGNC 30766 ENST00000367024 8/16 1 NA TTT T,C 8.269e-06 1:209763608 TRAF3IP3 HGNC Symbol protein_coding 26288 ENSG00000009790 ENSE00002284279 intron_variant -0.078561 0.18607 0.02474 0.099367 0.7705354 0.117764 1.376492e-06 FALSE 4.29487e-06 ENSE00002284279_BRK ENSE00002284279 BRK 1 209936795 209936964 + 42 96 32 A,G; T,T NA NA NA AGCTTTGTTCAAAAAGAATTTCATTCCCTTGGCTTCCAAGAGCTGTCAGAGGCCTGAATCAGAGTGGACAGTAGGTCTTGGAGAATCACCATTTTCTGTTTTAGGACCAGCTCCCTTTGTAGGGCCTCAAGGGGGTGCGGGCACAAAGTGCAAGAGGGTAAGATTAACCT 209763449 209763619 NA NA NA NA NA NA AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCTTGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGCCAAGGGAATGAAATTCTTTTTGAACAAAGCT AGGTTAATCTTACCCTCTTGCACTTTGTGCCCGCACCCCCAGGAGGCCCTACAAAGGGAGCTGGTCCTAAAACAGAAAATGGTGATTCTCCAAGACCTACTGTCCACTCTGATTCAGGCCTCTGACAGCTCTTGGAAGGTAAGGGAATGAAATTCTTTTTGAACAAAGCT control NA NA NA NA NA 65 394 0 0 0 NA NA 0.9250256 0.872156 NA NA -0.9250256 -0.872156 NA 0.8985908 NA -0.8985908 NA TRUE NA NA NA NA NA NA TRAF3IP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF3IP3 NA NA NA ENSG00000009790 ENSE00002284279 NA NA NA NA NA NA NA 1.376492e-06 FALSE NA ENSE00002287176_000 ENSE00002287176 000 16 70524185 70524354 - 48 63 59 NA NA NA NA NA CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 NA NA NA NA NA NA TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG natural 36 30 0.9899117 0.9971363 0.993524 853 457 0.9386753 0.9899993 0.9643373 0.9899117 0.9971363 0.9386753 0.9899993 0 0 0 0 0.993524 0.9643373 0 0 0 FALSE FALSE NA NA NA NA NA COG4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COG4 NA NA NA ENSG00000103051 ENSE00003681706 NA NA NA NA NA NA NA 4.388583e-06 FALSE NA ENSE00002287176_002 ENSE00002287176 002 16 70524185 70524354 - 48 63 59 C G 70524203 2476 152 CATGGGAAAAGATGGCTGGTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490299 70490300 70490300 downstr_intron 30 1.638298 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCACCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 98 1025 1 0.9064304 0.9532152 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 -0.08356882 0.993524 0.9643373 NA -0.01112204 NA FALSE NA 0.001 1.401 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 13/18 rs369076192 1 NA G:0 G:0.0001 GCT C,G 8.236e-06 16:70490300 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 0.435347 0.49332 0.28739 0.295142 0.6097102 0.518591 4.388583e-06 FALSE 4.06207e-06 ENSE00002287176_003 ENSE00002287176 003 16 70524185 70524354 - 48 63 59 T C 70524204 2477 151 CATGGGAAAAGATGGCTGCCGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490300 70490301 70490301 downstr_intron 29 1.617021 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCGGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 160 18 1 1 1 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 0.01000075 0.993524 0.9643373 NA 0.03566275 NA FALSE NA 0 0.289 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 13/18 rs372126109 1 NA C:0.0002 C:0 CTG T,C 2.471e-05 16:70490301 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 0.143053 0.2595 0.04309 0.295142 0.6055934 0.0476483 4.388583e-06 FALSE 1.21853e-05 ENSE00002287176_004 ENSE00002287176 004 16 70524185 70524354 - 48 63 59 G A 70524205 2478 150 CATGGGAAAAGATGGCTGCTAACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490301 70490302 70490302 downstr_intron 28 1.595745 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTTAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 164 324 1 1 1 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 0.01000075 0.993524 0.9643373 NA 0.03566275 NA FALSE NA 0.001 0.09 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 13/18 rs200183479 1 NA TGA G,A 8.236e-06 16:70490302 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 0.19141 0.24543 0.02491 0.295142 0.5247817 0.0476483 4.388583e-06 FALSE 4.0621e-06 ENSE00002287176_005 ENSE00002287176 005 16 70524185 70524354 - 48 63 59 C T 70524208 2479 147 CATGGGAAAAGATGGCTGCTGACTACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490304 70490305 70490305 downstr_intron 25 1.531915 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTAGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 151 303 0.9756095 0.9935983 0.9846039 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.0369342 0.003599083 0.993524 0.9643373 NA 0.02026664 NA FALSE NA 0 0.011 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 13/18 1 NA CCA C,T 8.236e-06 16:70490305 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 0.160707 0.25843 0.0067 0.295142 0.5699488 0.0476483 4.388583e-06 FALSE 4.06161e-06 ENSE00002287176_006 ENSE00002287176 006 16 70524185 70524354 - 48 63 59 T C 70524214 2480 141 CATGGGAAAAGATGGCTGCTGACCACTGACAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490310 70490311 70490311 downstr_intron 19 1.404255 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTGTCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 880 234 0.9390322 1 0.9695161 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.0003569529 0.01000075 0.993524 0.9643373 NA 0.00517885 NA FALSE NA 0 -2.847 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 13/18 rs376967615 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 C:0 C:0.0001 ATA T,C 1.647e-05 16:70490311 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 0.057576 0.13819 0.01023 0.295142 0.4823325 0.0726006 4.388583e-06 FALSE 2.03075e-05 ENSE00002287176_007 ENSE00002287176 007 16 70524185 70524354 - 48 63 59 G C 70524216 2481 139 CATGGGAAAAGATGGCTGCTGACCACTGATACGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490312 70490313 70490313 downstr_intron 17 1.361702 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCGTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 247 1893 1 0.9952152 0.9976076 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 0.005215971 0.993524 0.9643373 NA 0.03327036 NA FALSE NA 0.003 1.5 rs74026056 intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 13/18 rs74026056 1 C:0.0302 C:0.1082 C:0.0115 NA C:0 C:0 C:0 C:0.0921 C:0.0002 AGG G,C 0.00878 16:70490313 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 0.135225 0.32995 0.16506 0.295142 0.5495459 0.0733386 4.388583e-06 FALSE 0.00676647 ENSE00002287176_010 ENSE00002287176 010 16 70524185 70524354 - 48 63 59 G A 70524229 2484 126 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCATACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490325 70490326 70490326 downstr_intron 4 1.085106 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTATGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 795 24 1 0.9983984 0.9991992 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 0.008399112 0.993524 0.9643373 NA 0.03486193 NA FALSE NA 0.052 0.078 . splice_region_variant&intron_variant LOW COG4 HGNC 18620 ENST00000323786 13/18 1 NA CGT G,A 8.236e-06 16:70490326 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 splice_region_variant 1.25905 0.26004 0.03855 0.295142 0.6024241 0.139063 4.388583e-06 FALSE 8.12387e-06 ENSE00002287176_011 ENSE00002287176 011 16 70524185 70524354 - 48 63 59 A G 70524256 2485 99 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGGGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490352 70490353 70490353 exon -24 0.6349206 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCCCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 110 31 1 0.9922772 0.9961386 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 0.002277898 0.993524 0.9643373 NA 0.03180132 NA FALSE NA 1 5.143 rs141040495 missense_variant MODERATE COG4 HGNC 18620 ENST00000323786 13/19 rs141040495 1 tolerated(0.18) benign(0.029) NA G:0.0002 G:0.0001 GAG A,G 4.118e-05 16:70490353 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 missense_variant 3.582383 0.98797 0.93759 0.719381 0.9967948 0 4.388583e-06 FALSE 3.24971e-05 ENSE00002287176_012 ENSE00002287176 012 16 70524185 70524354 - 48 63 59 G A 70524269 2486 86 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTACAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490365 70490366 70490366 exon 27 0.4285714 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGTAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 142 146 0.9473569 0.9489329 0.9481449 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.008681665 -0.04106635 0.993524 0.9643373 NA -0.01619234 NA FALSE NA 1 3.209 . synonymous_variant LOW COG4 HGNC 18620 ENST00000323786 13/19 1 NA TGC G,A 8.236e-06 16:70490366 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 synonymous_variant 1.281061 0.98511 0.96077 0.719381 0.8098522 0 4.388583e-06 FALSE 8.12539e-06 ENSE00002287176_013 ENSE00002287176 013 16 70524185 70524354 - 48 63 59 T C 70524275 2487 80 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACCTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490371 70490372 70490372 exon 21 0.3333333 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAGGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 350 479 0.9995287 0.9996697 0.9995992 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06085347 0.009670432 0.993524 0.9643373 NA 0.03526195 NA FALSE NA 1 1.003 . synonymous_variant LOW COG4 HGNC 18620 ENST00000323786 13/19 1 NA CTT T,C 8.236e-06 16:70490372 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 synonymous_variant 0.925714 0.97679 0.76949 0.719381 0.7548644 0 4.388583e-06 FALSE 4.06303e-06 ENSE00002287176_016 ENSE00002287176 016 16 70524185 70524354 - 48 63 59 G A 70524302 2490 53 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAAATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490398 70490399 70490399 upstr_intron -7 -0.1016949 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATTTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 193 594 1 0.8118239 0.9059119 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 -0.1781754 0.993524 0.9643373 NA -0.05842531 NA FALSE NA 0.006 -0.39 . splice_region_variant&intron_variant LOW COG4 HGNC 18620 ENST00000323786 12/18 1 NA AGA G,A 1.647e-05 16:70490399 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 splice_region_variant 1.574322 0.31411 0.05587 0.099367 0.7655171 0.271079 4.388583e-06 FALSE 1.21961e-05 ENSE00002287176_019 ENSE00002287176 019 16 70524185 70524354 - 48 63 59 G A 70524307 2493 48 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAAGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490403 70490404 70490404 upstr_intron -12 -0.1864407 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCTTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 118 15 0.9886615 1 0.9943308 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.04998625 0.01000075 0.993524 0.9643373 NA 0.0299935 NA FALSE NA 0 -0.17 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 12/18 1 NA AGG G,A 8.236e-06 16:70490404 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 1.713655 0.23412 0.04253 0.099367 0.7340124 0.345205 4.388583e-06 FALSE 4.06544e-06 ENSE00002287176_020 ENSE00002287176 020 16 70524185 70524354 - 48 63 59 A C 70524317 2494 38 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGACCGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490413 70490414 70490414 upstr_intron -22 -0.3559322 TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGGTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 298 197 0.9914987 0.9986362 0.9950675 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.0528235 0.008636904 0.993524 0.9643373 NA 0.0307302 NA FALSE NA 0.001 0.673 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 12/18 1 NA AAC A,C 8.236e-06 16:70490414 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 1.358276 0.31458 0.05724 0.099367 0.7585005 0.251568 4.388583e-06 FALSE 4.06683e-06 ENSE00002287176_022 ENSE00002287176 022 16 70524185 70524354 - 48 63 59 G C 70524332 2496 23 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTCACTGTGCCTGCCACCCACTCCA 70490281 70490451 70490428 70490429 70490429 upstr_intron -37 -0.6101695 TGGAGTGGGTGGCAGGCACAGTGAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 444 88 1 1 1 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 0.01000075 0.993524 0.9643373 NA 0.03566275 NA FALSE NA 0 -0.247 NA NA NA COG4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:70490429 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant -0.223169 0.10051 0.00124 0.099367 0.4069492 0.0822557 4.388583e-06 FALSE 1.62825e-05 ENSE00002287176_024 ENSE00002287176 024 16 70524185 70524354 - 48 63 59 A G 70524333 2498 22 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGGCTGTGCCTGCCACCCACTCCA 70490281 70490451 70490429 70490430 70490430 upstr_intron -38 -0.6271186 TGGAGTGGGTGGCAGGCACAGCCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 166 213 1 0.9976429 0.9988215 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 0.007643677 0.993524 0.9643373 NA 0.03448421 NA FALSE NA 0 0.011 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 12/18 rs578034719 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GAC A,G 0.0002141 16:70490430 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 0.127425 0.22584 0.11868 0.099367 0.2830434 0.0822557 4.388583e-06 FALSE 0.000244202 ENSE00002287176_026 ENSE00002287176 026 16 70524185 70524354 - 48 63 59 C T 70524344 2500 11 CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTACCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACCTGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCTACCCACTCCA 70490281 70490451 70490440 70490441 70490441 upstr_intron -49 -0.8135593 TGGAGTGGGTAGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG mutant NA NA NA NA NA 12 303 1 0.9952132 0.9976066 0.9899117 0.9971363 0.9386753 0.9899993 NA NA 0.06132475 0.005213941 0.993524 0.9643373 NA 0.03326934 NA FALSE NA 0 0.059 . intron_variant MODIFIER COG4 HGNC 18620 ENST00000323786 12/18 1 NA CCA C,T 8.237e-06 16:70490441 COG4 HGNC Symbol protein_coding 42997 ENSG00000103051 ENSE00003681706 intron_variant 0.29848 0.09986 0.00151 0.099367 0.5515681 0.0726665 4.388583e-06 FALSE 4.07392e-06 ENSE00002287176_BRK ENSE00002287176 BRK 16 70524185 70524354 - 48 63 59 A,G; T,T NA NA NA CATGGGAAAAGATGGCTGCTGACCACTGATAGGCAATTTCCCTCGTGGCTCCAGTGTCTTCTTCAGAGTGGAGATGTTTTCACTGCAGACTTCCACGTTGTTCAGAGTCACAAGGGAGATGAGGAAGGAAGAACGTGACTTCCTGCTGACTGTGCCTGCCACCCACTCCA 70490281 70490451 NA NA NA NA NA NA TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCTTGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGCCACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG TGGAGTGGGTGGCAGGCACAGTCAGCAGGAAGTCACGTTCTTCCTTCCTCATCTCCCAGGTGACTCTGAACAACGTGGAAGTCTGCAGTGAAAACATCTCCACTCTGAAGAAGACACTGGAGGTACGAGGGAAATTGCCTATCAGTGGTCAGCAGCCATCTTTTCCCATG control 25 18 0 0 0 NA NA NA NA NA 0.9899117 0.9971363 0.9386753 0.9899993 -0.9899117 -0.9971363 NA NA 0.993524 0.9643373 -0.993524 NA NA NA TRUE NA NA NA NA NA COG4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COG4 NA NA NA ENSG00000103051 ENSE00003681706 NA NA NA NA NA NA NA 4.388583e-06 FALSE NA ENSE00002288378_000 ENSE00002288378 000 12 124904473 124904642 - 30 99 41 NA NA NA NA NA GTGCTGTACCCTGCTCAGCGTCCTCTTTCTCTGTCCCACAGACAGTGGCTGAGTGCGTCCTCTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAGGTAAGAGGCAAGGTGGGGGTGACTGTCCTT 124419926 124420096 NA NA NA NA NA NA GTGCTGTACCCTGCTCAGCGTCCTCTTTCTCTGTCCCACAGACAGTGGCTGAGTGCGTCCTCTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAGGTAAGAGGCAAGGTGGGGGTGACTGTCCTT GTGCTGTACCCTGCTCAGCGTCCTCTTTCTCTGTCCCACAGACAGTGGCTGAGTGCGTCCTCTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAGGTAAGAGGCAAGGTGGGGGTGACTGTCCTT natural 31 34 0.9978247 0.9984688 0.9981468 548 1053 0.9133088 0.9603235 0.9368161 0.9978247 0.9984688 0.9133088 0.9603235 0 0 0 0 0.9981468 0.9368161 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00002288378 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002291630_000 ENSE00002291630 000 22 44373705 44373874 + 47 87 36 NA NA NA NA NA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA 43977824 43977994 NA NA NA NA NA NA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA natural 35 50 0.9937618 1 0.9968809 1025 1696 0.9753312 0.9929192 0.9841252 0.9937618 1 0.9753312 0.9929192 0 0 0 0 0.9968809 0.9841252 0 0 0 FALSE FALSE NA NA NA NA NA SAMM50 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAMM50 NA NA NA ENSG00000100347 ENSE00003580187 NA NA NA NA NA NA NA 0.0007271145 FALSE NA ENSE00002291630_006 ENSE00002291630 006 22 44373705 44373874 + 47 87 36 C G 44373746 1340 42 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCGTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA 43977824 43977994 43977865 43977866 43977866 upstr_intron -6 -0.106383 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCGTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA mutant NA NA NA NA NA 233 386 0.9998232 1 0.9999116 0.9937618 1 0.9753312 0.9929192 NA NA 0.02449207 0.007080797 0.9968809 0.9841252 NA 0.01578643 NA FALSE NA 0 0.048 . splice_region_variant&intron_variant LOW SAMM50 HGNC 24276 ENST00000396202 8/13 1 NA CCT C,G 5.765e-05 22:43977866 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003580187 splice_region_variant 0.169175 0.2458 0.05063 0.295142 0.2750254 0.172798 0.0007271145 FALSE 3.66605e-05 ENSE00002291630_008 ENSE00002291630 008 22 44373705 44373874 + 47 87 36 C T 44373759 1342 55 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGTAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA 43977824 43977994 43977878 43977879 43977879 exon 8 0.09195402 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGTAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA mutant NA NA NA NA NA 301 74 1 0.9994841 0.999742 0.9937618 1 0.9753312 0.9929192 NA NA 0.02466883 0.006564852 0.9968809 0.9841252 NA 0.01561684 NA FALSE NA 1 7.017 . missense_variant MODERATE SAMM50 HGNC 24276 ENST00000396202 9/14 1 probably_damaging(0.967) NA GCA C,T 8.236e-06 22:43977879 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003580187 missense_variant 6.868631 0.9921 0.98442 0.743674 0.998991 0 0.0007271145 FALSE 8.14186e-06 ENSE00002291630_009 ENSE00002291630 009 22 44373705 44373874 + 47 87 36 C T 44373766 1343 62 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTATACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA 43977824 43977994 43977885 43977886 43977886 exon 15 0.1724138 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTATACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA mutant NA NA NA NA NA 356 51 1 1 1 0.9937618 1 0.9753312 0.9929192 NA NA 0.02466883 0.007080797 0.9968809 0.9841252 NA 0.01587481 NA FALSE NA 1 3.455 rs183790620 synonymous_variant LOW SAMM50 HGNC 24276 ENST00000396202 9/14 rs183790620 1 T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 ACA C,T 1.647e-05 22:43977886 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003580187 synonymous_variant 0.687005 0.98195 0.91712 0.743674 0.5671716 0 0.0007271145 FALSE 8.13603e-06 ENSE00002291630_013 ENSE00002291630 013 22 44373705 44373874 + 47 87 36 G T 44373814 1347 110 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTTAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA 43977824 43977994 43977933 43977934 43977934 exon -25 0.7241379 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTTAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA mutant NA NA NA NA NA 21 161 0.8 1 0.9 0.9937618 1 0.9753312 0.9929192 NA NA -0.1753312 0.007080797 0.9968809 0.9841252 NA -0.08412519 NA FALSE NA 1 2.065 NA NA NA SAMM50 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:43977934 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003580187 missense_variant 1.525291 0.97424 0.93302 0.719381 0.9798699 0 0.0007271145 FALSE 4.07814e-06 ENSE00002291630_015 ENSE00002291630 015 22 44373705 44373874 + 47 87 36 G A 44373820 1349 116 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAACAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA 43977824 43977994 43977939 43977940 43977940 exon -19 0.7931034 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAACAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA mutant NA NA NA NA NA 43 517 1 1 1 0.9937618 1 0.9753312 0.9929192 NA NA 0.02466883 0.007080797 0.9968809 0.9841252 NA 0.01587481 NA FALSE NA 0.102 0.4 rs118006199 synonymous_variant LOW SAMM50 HGNC 24276 ENST00000396202 9/14 rs118006199 1 A:0.0016 A:0 A:0 NA A:0 A:0.001 A:0.0072 A:0.0007 A:0.0005 AGC G,A 0.002281 22:43977940 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003580187 synonymous_variant 0.832359 0.21087 0.07228 0.719381 0.466658 0 0.0007271145 FALSE 0.00222405 ENSE00002291630_019 ENSE00002291630 019 22 44373705 44373874 + 47 87 36 C T 44373847 1353 143 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATTTAACGGATGCTGGCACCTGCACTGTCA 43977824 43977994 43977966 43977967 43977967 downstr_intron 9 1.257143 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATTTAACGGATGCTGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA mutant NA NA NA NA NA 82 44 1 1 1 0.9937618 1 0.9753312 0.9929192 NA NA 0.02466883 0.007080797 0.9968809 0.9841252 NA 0.01587481 NA FALSE NA 0 0.161 . intron_variant MODIFIER SAMM50 HGNC 24276 ENST00000396202 9/13 1 NA TCT C,T 8.237e-06 22:43977967 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003580187 intron_variant 0.359181 0.23197 0.03608 0.091178 0.598152 0.0811984 0.0007271145 FALSE NA ENSE00002291630_022 ENSE00002291630 022 22 44373705 44373874 + 47 87 36 T C 44373858 1356 154 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCCGGCACCTGCACTGTCA 43977824 43977994 43977977 43977978 43977978 downstr_intron 20 1.571429 TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCCGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA mutant NA NA NA NA NA 1084 200 0.9998586 0.9852658 0.9925622 0.9937618 1 0.9753312 0.9929192 NA NA 0.02452743 -0.00765339 0.9968809 0.9841252 NA 0.008437022 NA FALSE NA 0.026 0.858 . intron_variant MODIFIER SAMM50 HGNC 24276 ENST00000396202 9/13 rs368255827 1 NA C:0.0005 C:0 CTG T,C 8.238e-06 22:43977978 SAMM50 HGNC Symbol protein_coding 55110 ENSG00000100347 ENSE00003580187 intron_variant -0.720668 0.05052 0.00298 0.091178 0.38499 0.0615656 0.0007271145 FALSE NA ENSE00002291630_BRK ENSE00002291630 BRK 22 44373705 44373874 + 47 87 36 A,G; T,T NA NA NA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCTTGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCACCGAGTATCTAACGGATGCTGGCACCTGCACTGTCA 43977824 43977994 NA NA NA NA NA NA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCTTGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCACCGAGTATCTAACGGATGCTGGCACCTGCACTGTCA TAATAAGTCTGTTTGCTCCCTTTGACCTGAGTGCTCCTTCCCTGCAGGAACTGGCAGGCTACACTGGCGGGGATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTGAGTATCTAACGGATGCTGGCACCTGCACTGTCA control 90 42 0 0 0 NA NA NA NA NA 0.9937618 1 0.9753312 0.9929192 -0.9937618 -1 NA NA 0.9968809 0.9841252 -0.9968809 NA NA NA TRUE NA NA NA NA NA SAMM50 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAMM50 NA NA NA ENSG00000100347 ENSE00003580187 NA NA NA NA NA NA NA 0.0007271145 FALSE NA ENSE00002293962_000 ENSE00002293962 000 9 75778330 75778499 + 62 57 51 NA NA NA NA NA ACTTAAGGTAGGAAGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGAATCAGCCAAGTCTTCATTCACACCAAAGTCCTCAGATCGGTCACCCTGAAAGAAATCCCATTCTATTGTAAGCTCTTCTCTAGCATGTAATTGCATGATTTACTTAA 73163413 73163583 NA NA NA NA NA NA TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT natural 17 31 0.9864795 0.9253287 0.9559041 2694 2741 0.8686064 0.8449284 0.8567674 0.9864795 0.9253287 0.8686064 0.8449284 0 0 0 0 0.9559041 0.8567674 0 0 0 FALSE FALSE NA NA NA NA NA ANXA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANXA1 NA NA NA ENSG00000135046 ENSE00003463283 NA NA NA NA NA NA NA 0.0004423701 FALSE NA ENSE00002293962_002 ENSE00002293962 002 9 75778330 75778499 + 62 57 51 C A 75778344 605 15 ACTTAAGGTAGGAAGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGAATCAGCCAAGTCTTCATTCACACCAAAGTCCTCAGATCGGTCACCCTGAAAGAAATCCCATTCTATTGTAAGCTCTTCTCTAGCATGTAATTTCATGATTTACTTAA 73163413 73163583 73163427 73163428 73163428 upstr_intron -48 -0.7580645 TTAAGTAAATCATGAAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 530 266 0.9962924 1 0.9981462 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.127686 0.1550716 0.9559041 0.8567674 NA 0.1413788 NA FALSE NA 0 -0.365 . intron_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 3/6 1 NA GCA C,A 8.237e-06 9:73163428 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 intron_variant 0.32466 0.16877 0.05364 0.069865 0.4517897 0.182277 0.0004423701 FALSE NA ENSE00002293962_004 ENSE00002293962 004 9 75778330 75778499 + 62 57 51 A T 75778346 607 17 TTAAGTAAATCATGCATTTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT 73163413 73163583 73163429 73163430 73163430 upstr_intron -46 -0.7258065 TTAAGTAAATCATGCATTTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 585 29 0.9898692 0.9544345 0.9721518 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.1212628 0.1095061 0.9559041 0.8567674 NA 0.1153845 NA FALSE NA 0.001 0.464 NA NA NA ANXA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:73163430 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 intron_variant 0.357945 0.154 0.03802 0.069865 0.5042142 0.182277 0.0004423701 FALSE 4.23876e-06 ENSE00002293962_006 ENSE00002293962 006 9 75778330 75778499 + 62 57 51 G C 75778362 609 33 ACTTAAGGTAGGAAGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGAATCAGCCAAGTCTTCATTCACACCAAAGTCCTCAGATCGGTCACCCTGAAAGAAATCCCATTCTATTGTAAGCTGTTCTCTAGCATGTAATTGCATGATTTACTTAA 73163413 73163583 73163445 73163446 73163446 upstr_intron -30 -0.4677419 TTAAGTAAATCATGCAATTACATGCTAGAGAACAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 88 1141 0.9971598 0.9586297 0.9778948 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.1285535 0.1137013 0.9559041 0.8567674 NA 0.1211274 NA FALSE NA 0 -0.875 . intron_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 3/6 1 NA AGA G,C 8.237e-06 9:73163446 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 intron_variant -0.204891 0.1549 0.03108 0.078448 0.5239901 0.158336 0.0004423701 FALSE 4.11042e-06 ENSE00002293962_007 ENSE00002293962 007 9 75778330 75778499 + 62 57 51 T G 75778366 610 37 ACTTAAGGTAGGAAGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGAATCAGCCAAGTCTTCATTCACACCAAAGTCCTCAGATCGGTCACCCTGAAAGAAATCCCATTCTATTGTACGCTCTTCTCTAGCATGTAATTGCATGATTTACTTAA 73163413 73163583 73163449 73163450 73163450 upstr_intron -26 -0.4032258 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCGTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 138 271 0 0.09465277 0.04732639 0.9864795 0.9253287 0.8686064 0.8449284 NA NA -0.8686064 -0.7502756 0.9559041 0.8567674 NA -0.809441 NA TRUE NA 0.013 0.666 . intron_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 3/6 1 NA CTT T,G 8.237e-06 9:73163450 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 intron_variant 0.460723 0.23725 0.14345 0.078448 0.7258085 0.158336 0.0004423701 FALSE NA ENSE00002293962_008 ENSE00002293962 008 9 75778330 75778499 + 62 57 51 A G 75778370 611 41 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACGATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT 73163413 73163583 73163453 73163454 73163454 upstr_intron -22 -0.3387097 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACGATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 407 880 1 0.9921021 0.9960511 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.1313936 0.1471737 0.9559041 0.8567674 NA 0.1392837 NA FALSE NA 0 1.337 rs2795118 intron_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 3/6 rs2795118 1 G:0.0577 G:0.087 G:0.0202 NA G:0.006 G:0.0547 G:0.1012 G:0.0858 G:0.0407 CAA A,G 0.053 9:73163454 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 intron_variant 0.309429 0.24006 0.1941 0.078448 0.7554155 0.158336 0.0004423701 FALSE 0.0500339 ENSE00002293962_009 ENSE00002293962 009 9 75778330 75778499 + 62 57 51 T C 75778401 612 72 ACTTAAGGTAGGAAGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGAATCAGCCAAGTCTTCATTCACACCAAAGTCCTCAGGTCGGTCACCCTGAAAGAAATCCCATTCTATTGTAAGCTCTTCTCTAGCATGTAATTGCATGATTTACTTAA 73163413 73163583 73163484 73163485 73163485 exon 10 0.1754386 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGACCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 408 307 0.9969341 1 0.9984671 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.1283278 0.1550716 0.9559041 0.8567674 NA 0.1416997 NA FALSE NA 0.054 0.214 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/7 1 NA ATC T,C 8.237e-06 9:73163485 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 missense_variant 1.897275 0.36309 0.25592 0.67177 0.9462248 0 0.0004423701 FALSE 4.06779e-06 ENSE00002293962_010 ENSE00002293962 010 9 75778330 75778499 + 62 57 51 G T 75778406 613 77 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGATGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT 73163413 73163583 73163489 73163490 73163490 exon 15 0.2631579 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGATGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 1162 315 0.9478643 0.9274114 0.9376378 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.07925789 0.08248301 0.9559041 0.8567674 NA 0.08087045 NA FALSE NA 1 0.438 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/7 COSM609398&COSM1650888 1 NA AGG G,T 8.237e-06 9:73163490 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 missense_variant 3.971983 0.92562 0.86011 0.67177 0.9979906 0 0.0004423701 FALSE 4.06805e-06 ENSE00002293962_012 ENSE00002293962 012 9 75778330 75778499 + 62 57 51 G A 75778416 615 87 ACTTAAGGTAGGAAGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGAATCAGCCAAGTCTTCATTCATACCAAAGTCCTCAGATCGGTCACCCTGAAAGAAATCCCATTCTATTGTAAGCTCTTCTCTAGCATGTAATTGCATGATTTACTTAA 73163413 73163583 73163499 73163500 73163500 exon 25 0.4385965 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTATGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 337 593 0.800478 0.8 0.800239 0.9864795 0.9253287 0.8686064 0.8449284 NA NA -0.06812834 -0.0449284 0.9559041 0.8567674 NA -0.05652837 NA FALSE NA 0.581 0.9 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/7 1 NA TGT G,A 2.471e-05 9:73163500 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 missense_variant 3.36437 0.78361 0.75045 0.67177 0.9970047 0 0.0004423701 FALSE 1.22026e-05 ENSE00002293962_013 ENSE00002293962 013 9 75778330 75778499 + 62 57 51 G C 75778431 616 102 ACTTAAGGTAGGAAGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGAATCAGGCAAGTCTTCATTCACACCAAAGTCCTCAGATCGGTCACCCTGAAAGAAATCCCATTCTATTGTAAGCTCTTCTCTAGCATGTAATTGCATGATTTACTTAA 73163413 73163583 73163514 73163515 73163515 exon -18 0.7017544 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGCCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 40 175 1 0.941586 0.970793 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.1313936 0.09665757 0.9559041 0.8567674 NA 0.1140256 NA FALSE NA 1 7.164 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/7 1 NA GGC G,C 8.237e-06 9:73163515 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 missense_variant 6.964725 0.97541 0.97759 0.67177 0.9983169 0 0.0004423701 FALSE 4.06835e-06 ENSE00002293962_014 ENSE00002293962 014 9 75778330 75778499 + 62 57 51 T A 75778436 617 107 ACTTAAGGTAGGAAGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGATTCAGCCAAGTCTTCATTCACACCAAAGTCCTCAGATCGGTCACCCTGAAAGAAATCCCATTCTATTGTAAGCTCTTCTCTAGCATGTAATTGCATGATTTACTTAA 73163413 73163583 73163519 73163520 73163520 exon -13 0.7894737 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGAATCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 54 185 1 0.9991442 0.9995721 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.1313936 0.1542158 0.9559041 0.8567674 NA 0.1428047 NA FALSE NA 0.002 -0.055 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/7 1 NA ATT T,A 8.237e-06 9:73163520 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 missense_variant 2.381837 0.483 0.29919 0.67177 0.9694789 0 0.0004423701 FALSE 4.06808e-06 ENSE00002293962_015 ENSE00002293962 015 9 75778330 75778499 + 62 57 51 C T 75778445 618 116 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCTAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT 73163413 73163583 73163528 73163529 73163529 exon -4 0.9473684 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCTAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 1231 111 0.9249037 0.9255442 0.925224 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.05629729 0.08061584 0.9559041 0.8567674 NA 0.06845657 NA FALSE NA 0.987 0.188 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/7 1 NA CCA C,T 8.237e-06 9:73163529 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 synonymous_variant 2.431057 0.92231 0.82929 0.67177 0.8245695 0 0.0004423701 FALSE 8.14021e-06 ENSE00002293962_017 ENSE00002293962 017 9 75778330 75778499 + 62 57 51 C T 75778460 620 131 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGTTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT 73163413 73163583 73163543 73163544 73163544 downstr_intron 12 1.24 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGTTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 674 622 0.9213799 0.9968237 0.9591018 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.05277355 0.1518953 0.9559041 0.8567674 NA 0.1023344 NA FALSE NA 0.001 0.989 . intron_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/6 1 NA GCT C,T 8.238e-06 9:73163544 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 intron_variant 1.80752 0.27642 0.08625 0.069865 0.8194908 0.30699 0.0004423701 FALSE 8.15395e-06 ENSE00002293962_018 ENSE00002293962 018 9 75778330 75778499 + 62 57 51 T C 75778486 621 157 ACTTAAGGTAGGAGGATGAACTGCAGCAGTATTTTGTAAGCACTTCCTTACCCTGGCATCTGAATCAGCCAAGTCTTCATTCACACCAAAGTCCTCAGATCGGTCACCCTGAAAGAAATCCCATTCTATTGTAAGCTCTTCTCTAGCATGTAATTGCATGATTTACTTAA 73163413 73163583 73163569 73163570 73163570 downstr_intron 38 1.76 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCCTCCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 1156 142 0.9996077 1 0.9998039 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.1310014 0.1550716 0.9559041 0.8567674 NA 0.1430365 NA FALSE NA 0.003 0.996 . intron_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/6 1 NA CTT T,C 8.238e-06 9:73163570 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 intron_variant 0.045355 0.26607 0.30022 0.069865 0.8035259 0.0735093 0.0004423701 FALSE 4.09782e-06 ENSE00002293962_019 ENSE00002293962 019 9 75778330 75778499 + 62 57 51 C T 75778488 622 159 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTTCTACCTTAAGT 73163413 73163583 73163571 73163572 73163572 downstr_intron 40 1.8 TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTTCTACCTTAAGT TTAAGTAAATCATGCAATTACATGCTAGAGAAGAGCTTACAATAGAATGGGATTTCTTTCAGGGTGACCGATCTGAGGACTTTGGTGTGAATGAAGACTTGGCTGATTCAGATGCCAGGGTAAGGAAGTGCTTACAAAATACTGCTGCAGTTCATCTTCCTACCTTAAGT mutant NA NA NA NA NA 69 1500 0.9708103 0.9966462 0.9837282 0.9864795 0.9253287 0.8686064 0.8449284 NA NA 0.1022039 0.1517178 0.9559041 0.8567674 NA 0.1269608 NA FALSE NA 0 0.123 . intron_variant&non_coding_transcript_variant MODIFIER ANXA1 HGNC 533 ENST00000495713 4/6 1 NA TCC C,T 2.471e-05 9:73163572 ANXA1 HGNC Symbol protein_coding 18636 ENSG00000135046 ENSE00003463283 intron_variant 0.32676 0.18949 0.14257 0.069865 0.5002302 0.0735093 0.0004423701 FALSE 6.15021e-05 ENSE00002295088_000 ENSE00002295088 000 2 238267625 238267794 - 53 54 63 NA NA NA NA NA CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 NA NA NA NA NA NA CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT natural 181 303 0.8639841 0.8281291 0.8460566 10751 13199 0.9032286 0.899933 0.9015808 0.8639841 0.8281291 0.9032286 0.899933 0 0 0 0 0.8460566 0.9015808 0 0 0 FALSE FALSE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00002295088 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002295088_001 ENSE00002295088 001 2 238267625 238267794 - 53 54 63 T C 238267644 5720 151 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAGAGAATATCAACATTTCATT 237358981 237359151 237359000 237359001 237359001 downstr_intron 34 1.653846 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAGAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 1254 1525 0.9530139 0.9481957 0.9506048 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.04978526 0.04826269 0.8460566 0.9015808 NA 0.04902397 NA FALSE NA 0 -1.214 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 19/42 rs562842553 1 C:0.0000 C:0 C:0 NA C:0 C:0 C:0 TTT T,C 7.413e-05 2:237359001 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant 0.194027 0.13701 0.0179 0.057505 0.5353926 0.0455939 7.793308e-11 FALSE 5.2812e-05 ENSE00002295088_002 ENSE00002295088 002 2 238267625 238267794 - 53 54 63 C T 238267646 5721 149 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGAAAAGAATATCAACATTTCATT 237358981 237359151 237359002 237359003 237359003 downstr_intron 32 1.615385 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGAAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 2097 927 0.9473324 0.9557847 0.9515586 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.04410373 0.05585174 0.8460566 0.9015808 NA 0.04997773 NA FALSE NA 0 -0.491 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 19/42 1 NA TCC C,T 8.236e-06 2:237359003 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant 0.25276 0.15124 0.02054 0.057505 0.6444116 0.0455939 7.793308e-11 FALSE 4.0626e-06 ENSE00002295088_003 ENSE00002295088 003 2 238267625 238267794 - 53 54 63 A T 238267648 5722 147 AATGAAATGTTGATATTCTTTCCTTAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAG 237358981 237359151 237359004 237359005 237359005 downstr_intron 30 1.576923 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTAAGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 1277 217 0.8130616 0.8411361 0.8270989 0.8639841 0.8281291 0.9032286 0.899933 NA NA -0.09016705 -0.05879688 0.8460566 0.9015808 NA -0.07448197 NA FALSE NA 0 -1.036 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237359005 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant 0.168349 0.11349 0.01929 0.057505 0.5713666 0.0455939 7.793308e-11 FALSE 0.000154354 ENSE00002295088_004 ENSE00002295088 004 2 238267625 238267794 - 53 54 63 A G 238267648 5723 147 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTACGGAAAGAATATCAACATTTCATT 237358981 237359151 237359004 237359005 237359005 downstr_intron 30 1.576923 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTACGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 795 1894 0.9549302 0.9450628 0.9499965 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.05170159 0.04512976 0.8460566 0.9015808 NA 0.04841568 NA FALSE NA 0 -1.036 NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00002295088 intron_variant 0.244041 0.11394 0.02744 0.057505 0.418022 0.0455939 7.793308e-11 FALSE 8.12387e-06 ENSE00002295088_005 ENSE00002295088 005 2 238267625 238267794 - 53 54 63 C G 238267657 5724 138 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGCTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359013 237359014 237359014 downstr_intron 21 1.403846 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGCTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 240 938 0.9861946 0.9849351 0.9855649 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.08296599 0.08500212 0.8460566 0.9015808 NA 0.08398405 NA FALSE NA 0 -0.298 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 19/42 1 NA ACC C,G 8.236e-06 2:237359014 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant -0.236961 0.13607 0.00971 0.057505 0.4947437 0.046323 7.793308e-11 FALSE 4.06157e-06 ENSE00002295088_006 ENSE00002295088 006 2 238267625 238267794 - 53 54 63 C T 238267661 5725 134 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACAGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359017 237359018 237359018 downstr_intron 17 1.326923 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACAGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 1002 286 0.9293595 0.95 0.9396797 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.02613083 0.05006699 0.8460566 0.9015808 NA 0.03809891 NA FALSE NA 0 -2.227 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 19/42 1 NA CCG C,T 8.236e-06 2:237359018 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant -0.432958 0.0975 0.00236 0.057505 0.174152 0.046323 7.793308e-11 FALSE 8.12262e-06 ENSE00002295088_008 ENSE00002295088 008 2 238267625 238267794 - 53 54 63 G A 238267665 5727 130 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTTCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359021 237359022 237359022 downstr_intron 13 1.25 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTTCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 1232 3869 0.9412324 0.9347582 0.9379953 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.03800373 0.03482519 0.8460566 0.9015808 NA 0.03641446 NA FALSE NA 0 0.203 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 19/42 1 NA GGA G,A 8.236e-06 2:237359022 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant 0.204433 0.20447 0.01853 0.057505 0.421826 0.046323 7.793308e-11 FALSE 4.06138e-06 ENSE00002295088_009 ENSE00002295088 009 2 238267625 238267794 - 53 54 63 T C 238267675 5728 120 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTGGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359031 237359032 237359032 downstr_intron 3 1.057692 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTGGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 536 1889 0.050912 0.01811479 0.0345134 0.8639841 0.8281291 0.9032286 0.899933 NA NA -0.8523166 -0.8818182 0.8460566 0.9015808 NA -0.8670674 NA TRUE NA 0.962 0.623 . splice_region_variant&intron_variant LOW COL6A3 HGNC 2213 ENST00000346358 19/42 1 NA CTA T,C 8.236e-06 2:237359032 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 splice_region_variant 1.590463 0.96671 0.75608 0.071141 0.9109855 0.509755 7.793308e-11 FALSE 4.06078e-06 ENSE00002295088_010 ENSE00002295088 010 2 238267625 238267794 - 53 54 63 C G 238267678 5729 117 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGCGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359034 237359035 237359035 exon -1 1 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGCGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 1984 2420 0.008927275 0.005606911 0.007267093 0.8639841 0.8281291 0.9032286 0.899933 NA NA -0.8943014 -0.8943261 0.8460566 0.9015808 NA -0.8943137 NA TRUE NA 1 2.473 . missense_variant&splice_region_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 19/43 1 unknown(0) NA CCC C,G 4.942e-05 2:237359035 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 missense_variant 3.634431 0.97931 0.96185 0.538715 0.9623327 0 7.793308e-11 FALSE 2.43653e-05 ENSE00002295088_011 ENSE00002295088 011 2 238267625 238267794 - 53 54 63 T A 238267692 5730 103 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGTATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359048 237359049 237359049 exon -15 0.7407407 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGTATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 120 1872 0.7824539 0.7978647 0.7901593 0.8639841 0.8281291 0.9032286 0.899933 NA NA -0.1207748 -0.1020683 0.8460566 0.9015808 NA -0.1114216 NA FALSE NA 0.681 4.436 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 19/43 1 unknown(0) NA TTC T,A 8.236e-06 2:237359049 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 missense_variant 2.516788 0.91345 0.80619 0.538715 0.9624933 0 7.793308e-11 FALSE 2.03034e-05 ENSE00002295088_012 ENSE00002295088 012 2 238267625 238267794 - 53 54 63 C T 238267717 5731 78 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTACCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359073 237359074 237359074 exon 15 0.2777778 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTACCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 2486 603 0.8351811 0.8979467 0.8665639 0.8639841 0.8281291 0.9032286 0.899933 NA NA -0.06804758 -0.001986281 0.8460566 0.9015808 NA -0.03501693 NA FALSE NA 0.895 0.036 rs2646254 synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 19/43 rs2646254&COL6A3:c.6369G>A 1 T:0.3309 T:0.5416&T:0.5416 T:0.2507&T:0.2507 NA T:0.3522&T:0.3522 T:0.1511&T:0.1511 T:0.2658&T:0.2658 T:0.4705&T:0.4705 T:0.1358&T:0.1358 GCA C,T 0.213 2:237359074 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 synonymous_variant 1.767891 0.97133 0.82071 0.600919 0.7369431 0 7.793308e-11 FALSE 0.212185 ENSE00002295088_013 ENSE00002295088 013 2 238267625 238267794 - 53 54 63 T G 238267727 5732 68 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGCCAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359083 237359084 237359084 exon 5 0.09259259 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGCCAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 421 3625 0.9712202 0.9890986 0.9801594 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.06799156 0.08916555 0.8460566 0.9015808 NA 0.07857855 NA FALSE NA 1 3.275 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 19/43 1 unknown(0) NA GTC T,G 8.236e-06 2:237359084 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 missense_variant 4.541505 0.99088 0.97781 0.600919 0.9553472 0 7.793308e-11 FALSE 4.06055e-06 ENSE00002295088_014 ENSE00002295088 014 2 238267625 238267794 - 53 54 63 C A 238267732 5733 63 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCATGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359088 237359089 237359089 upstr_intron -1 0 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCATGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 1889 2580 0.01313466 0.009223508 0.01117908 0.8639841 0.8281291 0.9032286 0.899933 NA NA -0.890094 -0.8907095 0.8460566 0.9015808 NA -0.8904017 NA TRUE NA 1 6.938 . splice_acceptor_variant HIGH COL6A3 HGNC 2213 ENST00000346358 18/42 rs113605136 1 NA HC CCT C,A 8.236e-06 2:237359089 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 splice_acceptor_variant 5.794845 0.99301 0.99156 0.080785 0.9955064 0.984199 7.793308e-11 FALSE NA ENSE00002295088_015 ENSE00002295088 015 2 238267625 238267794 - 53 54 63 C A 238267735 5734 60 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGTCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359091 237359092 237359092 upstr_intron -4 -0.04761905 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGTCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 555 590 0.02131829 0.002885109 0.0121017 0.8639841 0.8281291 0.9032286 0.899933 NA NA -0.8819104 -0.8970479 0.8460566 0.9015808 NA -0.8894791 NA TRUE NA 0.124 0.192 . splice_region_variant&intron_variant LOW COL6A3 HGNC 2213 ENST00000346358 18/42 1 NA GCC C,A 3.295e-05 2:237359092 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 splice_region_variant 1.62881 0.92625 0.14036 0.057505 0.7422123 0.42885 7.793308e-11 FALSE 2.84243e-05 ENSE00002295088_016 ENSE00002295088 016 2 238267625 238267794 - 53 54 63 C T 238267756 5735 39 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTAACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359112 237359113 237359113 upstr_intron -25 -0.3809524 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTAACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 897 170 0.9975109 0.9979594 0.9977352 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.09428225 0.09802642 0.8460566 0.9015808 NA 0.09615434 NA FALSE NA 0.123 0.081 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 18/42 rs369443404 1 NA T:0 T:0.0002 TCA C,T 4.118e-05 2:237359113 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant 0.341658 0.19883 0.02548 0.057505 0.6461109 0.0517844 7.793308e-11 FALSE 6.90299e-05 ENSE00002295088_018 ENSE00002295088 018 2 238267625 238267794 - 53 54 63 C T 238267761 5737 34 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAAGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359117 237359118 237359118 upstr_intron -30 -0.4603175 CTAACAACTCAGTCTGTGATAGAAATTGCAGCAAGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 518 3008 0.9958995 0.9985944 0.997247 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.09267087 0.09866139 0.8460566 0.9015808 NA 0.09566613 NA FALSE NA 0 -0.37 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 18/42 1 NA CCT C,T 1.647e-05 2:237359118 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant 0.188054 0.25749 0.04156 0.057505 0.2553396 0.0517844 7.793308e-11 FALSE 1.21819e-05 ENSE00002295088_019 ENSE00002295088 019 2 238267625 238267794 - 53 54 63 A G 238267769 5738 26 CTAACAACTCAGTCTGTGATAGAAACTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 237359125 237359126 237359126 upstr_intron -38 -0.5873016 CTAACAACTCAGTCTGTGATAGAAACTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 1951 2611 0.8916732 0.8505 0.8710866 0.8639841 0.8281291 0.9032286 0.899933 NA NA -0.01155546 -0.049433 0.8460566 0.9015808 NA -0.03049423 NA FALSE NA 0 -1.012 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 18/42 1 NA AAT A,G 8.236e-06 2:237359126 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant -0.094882 0.12157 0.01956 0.057505 0.4401226 0.0509986 7.793308e-11 FALSE 4.06062e-06 ENSE00002295088_020 ENSE00002295088 020 2 238267625 238267794 - 53 54 63 A T 238267782 5739 13 AATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGTCTGAGTTGTTAG 237358981 237359151 237359138 237359139 237359139 upstr_intron -51 -0.7936508 CTAACAACTCAGACTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT mutant NA NA NA NA NA 413 995 0.9219307 0.9233362 0.9226334 0.8639841 0.8281291 0.9032286 0.899933 NA NA 0.01870203 0.02340321 0.8460566 0.9015808 NA 0.02105262 NA FALSE NA 0 0.415 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 18/42 1 NA GAC A,T 1.647e-05 2:237359139 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00002295088 intron_variant 0.004337 0.23001 0.20912 0.057505 0.772346 0.0509986 7.793308e-11 FALSE 4.06058e-06 ENSE00002295088_BRK ENSE00002295088 BRK 2 238267625 238267794 - 53 54 63 A,G; T,T NA NA NA CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCTTGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGCCAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT 237358981 237359151 NA NA NA NA NA NA CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCTTGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGCCAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT CTAACAACTCAGTCTGTGATAGAAATTGCAGCAGGTGTGACCTTTAATCCTTGTCTTTGGCAGGGAGACAAAGGATTGCCTGGTTCTTCTGGAGAGAAAGGGAATCCTGGAAGAAGGGTAGGTGTATTTCCACGGTGGTGCTATTATGGAAAGAATATCAACATTTCATT control 40 181 0 0 0 2041 256 0.01516319 0 0.007581596 0.8639841 0.8281291 0.9032286 0.899933 -0.8639841 -0.8281291 -0.8880654 -0.899933 0.8460566 0.9015808 -0.8460566 -0.8939992 0.04794262 TRUE TRUE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00002295088 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002295562_000 ENSE00002295562 000 18 21209787 21209956 - 30 99 41 NA NA NA NA NA AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 NA NA NA NA NA NA AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC natural 80 121 0.9655019 0.8932503 0.9293761 1474 1549 0.9369434 0.9544387 0.945691 0.9655019 0.8932503 0.9369434 0.9544387 0 0 0 0 0.9293761 0.945691 0 0 0 FALSE FALSE NA NA NA NA NA ANKRD29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD29 NA NA NA ENSG00000154065 ENSE00002295562 NA NA NA NA NA NA NA 2.599822e-05 FALSE NA ENSE00002295562_001 ENSE00002295562 001 18 21209787 21209956 - 30 99 41 A G 21209803 239 154 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGCTGACATTTGCCCGAGC 23629822 23629992 23629838 23629839 23629839 downstr_intron 14 1.482759 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGCTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 218 148 1 0.9949598 0.9974799 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06305661 0.04052111 0.9293761 0.945691 NA 0.05178886 NA FALSE NA 0 -0.218 . intron_variant MODIFIER ANKRD29 HGNC 27110 ENST00000284207 6/8 1 NA AAC A,G 1.647e-05 18:23629839 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 intron_variant 0.458369 0.99003 0.00135 0.053691 0.694953 0.066684 2.599822e-05 FALSE 1.6374e-05 ENSE00002295562_003 ENSE00002295562 003 18 21209787 21209956 - 30 99 41 A G 21209812 241 145 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAACGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629847 23629848 23629848 downstr_intron 5 1.172414 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAACGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 2761 979 0.908245 0.8028483 0.8555466 0.9655019 0.8932503 0.9369434 0.9544387 NA NA -0.02869841 -0.1515904 0.9293761 0.945691 NA -0.09014439 NA FALSE NA 1 2.698 . splice_region_variant&intron_variant LOW ANKRD29 HGNC 27110 ENST00000284207 6/8 1 NA CAT A,G 8.236e-06 18:23629848 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 splice_region_variant 1.466217 0.99975 0.28966 0.053691 0.8810668 0.549734 2.599822e-05 FALSE 4.07973e-06 ENSE00002295562_004 ENSE00002295562 004 18 21209787 21209956 - 30 99 41 C T 21209820 242 137 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGACAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629855 23629856 23629856 exon -4 0.969697 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGACAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 629 1822 1 0.999139 0.9995695 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06305661 0.04470032 0.9293761 0.945691 NA 0.05387846 NA FALSE NA 1 1.636 . synonymous_variant LOW ANKRD29 HGNC 27110 ENST00000284207 6/9 1 NA GCC C,T 2.471e-05 18:23629856 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 splice_donor_variant 2.237318 0.99985 0.25266 0.554377 0.8611158 0 2.599822e-05 FALSE 5.2957e-05 ENSE00002295562_005 ENSE00002295562 005 18 21209787 21209956 - 30 99 41 G A 21209824 243 133 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCTAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629859 23629860 23629860 exon -8 0.9292929 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCTAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 742 175 0.9956181 0.9908046 0.9932114 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.05867469 0.03636596 0.9293761 0.945691 NA 0.04752033 NA FALSE NA 1 8.571 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 6/9 1 possibly_damaging(0.457) NA TGG G,A 8.236e-06 18:23629860 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 missense_variant 5.258069 0.9999 0.67106 0.615465 0.9847323 0 2.599822e-05 FALSE 8.14412e-06 ENSE00002295562_006 ENSE00002295562 006 18 21209787 21209956 - 30 99 41 G A 21209825 244 132 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGTCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629860 23629861 23629861 exon -9 0.9191919 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGTCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 4000 488 0.9975563 0.9786465 0.9881014 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06061286 0.02420783 0.9293761 0.945691 NA 0.04241035 NA FALSE NA 1 3.545 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 6/9 1 benign(0.041) NA GGC G,A 8.236e-06 18:23629861 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 missense_variant 3.617188 0.99978 0.30864 0.615465 0.9904692 0 2.599822e-05 FALSE 8.14405e-06 ENSE00002295562_008 ENSE00002295562 008 18 21209787 21209956 - 30 99 41 C A 21209849 246 108 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGTCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629884 23629885 23629885 exon -33 0.6767677 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGTCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 3226 848 0.9990136 0.9998135 0.9994135 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06207017 0.04537478 0.9293761 0.945691 NA 0.05372247 NA FALSE NA 1 3.146 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 6/9 1 benign(0.002) NA GCC C,A 8.236e-06 18:23629885 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 missense_variant 1.362621 0.94898 0.04969 0.615465 0.8560474 0 2.599822e-05 FALSE 4.06461e-06 ENSE00002295562_011 ENSE00002295562 011 18 21209787 21209956 - 30 99 41 C A 21209878 249 79 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGTTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629913 23629914 23629914 exon 38 0.3838384 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGTTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant 11 18 1 1 1 1087 504 0.9971684 1 0.9985842 0.9655019 0.8932503 0.9369434 0.9544387 0.03449811 0.1067497 0.06022497 0.04556132 0.9293761 0.945691 0.07062393 0.05289314 0.01773079 FALSE FALSE 1 6.791 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 6/9 1 probably_damaging(0.943) NA ACC C,A 8.236e-06 18:23629914 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 missense_variant 6.943143 0.98481 0.6195 0.554377 0.9954228 0 2.599822e-05 FALSE NA ENSE00002295562_012 ENSE00002295562 012 18 21209787 21209956 - 30 99 41 C T 21209879 250 78 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTAGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629914 23629915 23629915 exon 37 0.3737374 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTAGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant 14 114 0.9632745 0.8811947 0.9222346 NA NA NA NA NA 0.9655019 0.8932503 0.9369434 0.9544387 -0.002227352 -0.0120555 NA NA 0.9293761 0.945691 -0.007141426 NA NA NA FALSE 1 6.791 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 6/9 1 benign(0.304) NA CCA C,T 1.647e-05 18:23629915 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 missense_variant 5.144383 0.98434 0.57744 0.554377 0.9959935 0 2.599822e-05 FALSE 4.06299e-06 ENSE00002295562_013 ENSE00002295562 013 18 21209787 21209956 - 30 99 41 C T 21209881 251 76 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGATGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629916 23629917 23629917 exon 35 0.3535354 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGATGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 550 713 0.9983421 1 0.9991711 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06139874 0.04556132 0.9293761 0.945691 NA 0.05348003 NA FALSE NA 1 3.119 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 6/9 rs199594158 1 possibly_damaging(0.779) NA ACC C,T 8.237e-06 18:23629917 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 missense_variant 5.250491 0.96667 0.1993 0.554377 0.9977403 0 2.599822e-05 FALSE 1.2189e-05 ENSE00002295562_014 ENSE00002295562 014 18 21209787 21209956 - 30 99 41 G A 21209886 252 71 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCTCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629921 23629922 23629922 exon 30 0.3030303 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCTCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 1768 708 0.9997437 1 0.9998718 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06280028 0.04556132 0.9293761 0.945691 NA 0.0541808 NA FALSE NA 1 0.813 . synonymous_variant LOW ANKRD29 HGNC 27110 ENST00000284207 6/9 1 NA GGG G,A 1.647e-05 18:23629922 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 synonymous_variant 1.476983 0.95339 0.18012 0.554377 0.7644304 0 2.599822e-05 FALSE 8.12678e-06 ENSE00002295562_015 ENSE00002295562 015 18 21209787 21209956 - 30 99 41 C T 21209888 253 69 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTACCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629923 23629924 23629924 exon 28 0.2828283 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTACCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant 18 10 1 1 1 NA NA NA NA NA 0.9655019 0.8932503 0.9369434 0.9544387 0.03449811 0.1067497 NA NA 0.9293761 0.945691 0.07062393 NA NA NA FALSE 1 4.877 . missense_variant MODERATE ANKRD29 HGNC 27110 ENST00000284207 6/9 1 benign(0.324) NA GCA C,T 8.237e-06 18:23629924 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 missense_variant 6.510768 0.9745 0.38456 0.554377 0.9974207 0 2.599822e-05 FALSE 8.12717e-06 ENSE00002295562_016 ENSE00002295562 016 18 21209787 21209956 - 30 99 41 G A 21209895 254 62 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTTCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629930 23629931 23629931 exon 21 0.2121212 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTTCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 1091 213 0.9998595 1 0.9999298 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06291612 0.04556132 0.9293761 0.945691 NA 0.05423872 NA FALSE NA 1 2.088 . synonymous_variant LOW ANKRD29 HGNC 27110 ENST00000284207 6/9 rs200563159 1 A:0.0054 A:0 A:0 NA A:0 A:0 A:0.0276 GGA G,A 0.002611 18:23629931 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 synonymous_variant 1.391559 0.9566 0.22278 0.554377 0.7917469 0 2.599822e-05 FALSE 0.00232496 ENSE00002295562_017 ENSE00002295562 017 18 21209787 21209956 - 30 99 41 A G 21209904 255 53 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACCGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629939 23629940 23629940 exon 12 0.1212121 AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACCGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 1347 1542 0.9994441 0.998973 0.9992085 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06250066 0.0445343 0.9293761 0.945691 NA 0.05351748 NA FALSE NA 0.931 0.008 . synonymous_variant LOW ANKRD29 HGNC 27110 ENST00000284207 6/9 1 NA CAG A,G 8.237e-06 18:23629940 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 synonymous_variant 0.810507 0.89961 0.0778 0.554377 0.7313899 0 2.599822e-05 FALSE 4.06607e-06 ENSE00002295562_018 ENSE00002295562 018 18 21209787 21209956 - 30 99 41 T A 21209932 256 25 AAAGATAATGTTTTTAATGCTTTTTATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629967 23629968 23629968 upstr_intron -17 -0.3902439 AAAGATAATGTTTTTAATGCTTTTTATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant 32 36 0.9817995 0.9924552 0.9871274 NA NA NA NA NA 0.9655019 0.8932503 0.9369434 0.9544387 0.01629763 0.09920493 NA NA 0.9293761 0.945691 0.05775128 NA NA NA FALSE 0 0.111 . intron_variant MODIFIER ANKRD29 HGNC 27110 ENST00000284207 5/8 1 NA TTA T,A 8.238e-06 18:23629968 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 intron_variant 1.118954 0.41808 0.0076 0.053691 0.7573946 0.127169 2.599822e-05 FALSE 4.17188e-06 ENSE00002295562_019 ENSE00002295562 019 18 21209787 21209956 - 30 99 41 G A 21209937 257 20 AAAGATAATGTTTTTAATGTTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 23629972 23629973 23629973 upstr_intron -22 -0.5121951 AAAGATAATGTTTTTAATGTTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC mutant NA NA NA NA NA 217 74 1 1 1 0.9655019 0.8932503 0.9369434 0.9544387 NA NA 0.06305661 0.04556132 0.9293761 0.945691 NA 0.05430896 NA FALSE NA 0 -0.123 . intron_variant MODIFIER ANKRD29 HGNC 27110 ENST00000284207 5/8 rs375135971 1 NA A:0 A:0.0001 AGC G,A 8.238e-06 18:23629973 ANKRD29 HGNC Symbol protein_coding 63959 ENSG00000154065 ENSE00002295562 intron_variant 0.920881 0.55125 0.01714 0.053691 0.731803 0.127349 2.599822e-05 FALSE 4.19308e-06 ENSE00002295562_BRK ENSE00002295562 BRK 18 21209787 21209956 - 30 99 41 A,G; T,T NA NA NA AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCTTGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGCCAATGTCCACTGTTGACATTTGCCCGAGC 23629822 23629992 NA NA NA NA NA NA AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCTTGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGCCAATGTCCACTGTTGACATTTGCCCGAGC AAAGATAATGTTTTTAATGCTTTTAATTTGTTCTCTCTCAGGATGGAGCCACTGCCCTCTTCCTAGCTGCCCAAGGTGGTTACTTGGATGTTATTCGATTACTGCTGGCTTCAGGAGCAAAAGTCAACCAGCCAAGGCAGGTAATGTCCACTGTTGACATTTGCCCGAGC control NA NA NA NA NA 284 676 0.02208458 0.001626124 0.01185535 0.9655019 0.8932503 0.9369434 0.9544387 NA NA -0.9148588 -0.9528126 0.9293761 0.945691 NA -0.9338357 NA TRUE NA NA NA NA NA NA ANKRD29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD29 NA NA NA ENSG00000154065 ENSE00002295562 NA NA NA NA NA NA NA 2.599822e-05 FALSE NA ENSE00002296303_000 ENSE00002296303 000 2 189943732 189943901 - 57 45 68 NA NA NA NA NA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 NA NA NA NA NA NA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA natural 217 276 0.8295245 0.8714434 0.850484 1114 1375 0.9049242 0.9703157 0.9376199 0.8295245 0.8714434 0.9049242 0.9703157 0 0 0 0 0.850484 0.9376199 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00002296303 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002296303_003 ENSE00002296303 003 2 189943732 189943901 - 57 45 68 C T 189943770 3852 132 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTATTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 189079043 189079044 189079044 downstr_intron 19 1.339286 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTATTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA mutant NA NA NA NA NA 177 57 0.9761609 0.9993295 0.9877452 0.8295245 0.8714434 0.9049242 0.9703157 NA NA 0.07123673 0.02901381 0.850484 0.9376199 NA 0.05012527 NA FALSE NA 0 -0.855 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA ACA C 8.237e-06 2:189079044 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002296303 intron_variant -0.379187 0.0554 0.00982 0.088506 0.3173473 0.0448725 1 TRUE NA ENSE00002296303_005 ENSE00002296303 005 2 189943732 189943901 - 57 45 68 A C 189943774 3854 128 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTGCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 189079047 189079048 189079048 downstr_intron 15 1.267857 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTGCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA mutant NA NA NA NA NA 10 13 0.8 0.8 0.8 0.8295245 0.8714434 0.9049242 0.9703157 NA NA -0.1049242 -0.1703157 0.850484 0.9376199 NA -0.1376199 NA FALSE NA 0.005 0.002 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 rs201750819 1 NA GAA A 8.237e-06 2:189079048 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002296303 intron_variant -0.526843 0.1681 0.04163 0.088506 0.4373379 0.0448725 1 TRUE 4.07774e-06 ENSE00002296303_007 ENSE00002296303 007 2 189943732 189943901 - 57 45 68 G A 189943779 3856 123 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTTGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 189079052 189079053 189079053 downstr_intron 10 1.178571 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTTGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA mutant NA NA NA NA NA 756 59 0.9470015 0.9484812 0.9477413 0.8295245 0.8714434 0.9049242 0.9703157 NA NA 0.04207731 -0.02183455 0.850484 0.9376199 NA 0.01012138 NA FALSE NA 0 -0.781 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA CGA G 2.471e-05 2:189079053 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002296303 intron_variant -0.177493 0.19403 0.02108 0.088506 0.3366575 0.044906 1 TRUE 3.66856e-05 ENSE00002296303_010 ENSE00002296303 010 2 189943732 189943901 - 57 45 68 A T 189943790 3859 112 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCAGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 189079063 189079064 189079064 exon -2 0.9777778 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCAGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA mutant NA NA NA NA NA 137 376 1 1 1 0.8295245 0.8714434 0.9049242 0.9703157 NA NA 0.09507584 0.02968428 0.850484 0.9376199 NA 0.06238006 NA FALSE NA 1 4.461 . missense_variant&splice_region_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 15/54 rs372214958 1 probably_damaging(0.942) NA T:0 T:0.0001 CAG A 8.237e-06 2:189079064 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002296303 missense_variant 4.67151 0.98514 0.96169 0.732398 0.9704408 0 1 TRUE 4.07126e-06 ENSE00002296303_017 ENSE00002296303 017 2 189943732 189943901 - 57 45 68 C T 189943830 3866 72 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTAAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 189079103 189079104 189079104 exon 4 0.08888889 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTAAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA mutant NA NA NA NA NA 382 667 0.1757953 0.002068175 0.08893172 0.8295245 0.8714434 0.9049242 0.9703157 NA NA -0.7291289 -0.9682475 0.850484 0.9376199 NA -0.8486882 NA TRUE NA 1 5.298 rs142312726 missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 15/54 rs142312726&COSM395227&COSM3575480 1 probably_damaging(0.963) NA T:0 T:0.0001 TCA C 1.647e-05 2:189079104 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002296303 missense_variant 6.10858 0.98766 0.97289 0.732398 0.999238 0 1 TRUE 2.03757e-05 ENSE00002296303_020 ENSE00002296303 020 2 189943732 189943901 - 57 45 68 A C 189943854 3869 48 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAAGGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 189079127 189079128 189079128 upstr_intron -21 -0.2941176 CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAAGGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA mutant NA NA NA NA NA 256 480 0.01200383 0 0.006001914 0.8295245 0.8714434 0.9049242 0.9703157 NA NA -0.8929203 -0.9703157 0.850484 0.9376199 NA -0.931618 NA TRUE NA 0.002 0.559 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 14/53 1 NA CAT A 1.647e-05 2:189079128 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002296303 intron_variant -0.01966 0.27344 0.19689 0.088506 0.7112099 0.200619 1 TRUE 8.15162e-06 ENSE00002296303_024 ENSE00002296303 024 2 189943732 189943901 - 57 45 68 C T 189943878 3873 24 CACACAGAACAAAGTGATGTATCAGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 189079151 189079152 189079152 upstr_intron -45 -0.6470588 CACACAGAACAAAGTGATGTATCAGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA mutant NA NA NA NA NA 368 126 0.9944598 0.9966068 0.9955333 0.8295245 0.8714434 0.9049242 0.9703157 NA NA 0.08953564 0.02629111 0.850484 0.9376199 NA 0.05791338 NA FALSE NA 0 -0.43 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 14/53 1 NA CCG C 8.237e-06 2:189079152 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002296303 intron_variant -0.052884 0.07477 0.00065 0.088506 0.4831568 0.0689414 1 TRUE 1.65678e-05 ENSE00002296303_BRK ENSE00002296303 BRK 2 189943732 189943901 - 57 45 68 A,G; T,T NA NA NA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTTTGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGCCATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA 189079005 189079175 NA NA NA NA NA NA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTTTGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGCCATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA CACACAGAACAAAGTGATGTATCGGTTGTAGGCTTCTCATACTGTAATGTATTCTCATTTTTTTTTAGGGTGAAGCTGGCCCCACTGGTCCAATGGGTGCCATGGGTCCTCTGGTATGTGCTCGTTTTCTTGTTTCTTAAATTTCTAAGGTTATATTTCCTTGCCTTTTA control 52 29 0 0 0 NA NA NA NA NA 0.8295245 0.8714434 0.9049242 0.9703157 -0.8295245 -0.8714434 NA NA 0.850484 0.9376199 -0.850484 NA NA NA TRUE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00002296303 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002296409_000 ENSE00002296409 000 16 89950937 89951106 + 53 75 42 NA NA NA NA NA TCAGGCAGAGGGACAGAGCACAGCCAGGCCCAACTCACGTACCGATGCTTCTCCCGTGCTGCTTTTCTTGTTTTTCTGTTTTTTTTTCTTCTTCCGGAGTTTGCCACTTGCATGAGACTAATGATAGAAACACATTTTCATCAGTAGAATGAGAAGTAAATCTTAAGAAG 89884528 89884698 NA NA NA NA NA NA CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA natural NA NA NA NA NA 101 53 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA TCF25 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TCF25 NA NA NA ENSG00000141002 ENSE00003583927 NA NA NA NA NA NA NA 0.05177828 FALSE NA ENSE00002296409_004 ENSE00002296409 004 16 89950937 89951106 + 53 75 42 G A 89950974 3557 38 TCAGGCAGAGGGACAGAGCACAGCCAGGCCCAACTCACGTACCGATGCTTCTCCCGTGCTGCTTTTCTTGTTTTTCTGTTTTTTTTTCTTCTTCCGGAGTTTGCCACTTGCATGAGACTAATGATAGAAACATATTTTCATCAGTAGAATGAGAAGTAAATCTTAAGAAG 89884528 89884698 89884565 89884566 89884566 upstr_intron -16 -0.2830189 CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATATGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA mutant NA NA NA NA NA 35 499 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0 0.334 . upstream_gene_variant MODIFIER TCF25 HGNC 29181 ENST00000566751 1 NA TGT G,A 8.237e-06 16:89884566 TCF25 HGNC Symbol protein_coding 40057 ENSG00000141002 ENSE00003583927 intron_variant -0.155668 0.21428 0.59979 0.256867 0.4297231 0.123385 0.05177828 FALSE 4.0799e-06 ENSE00002296409_005 ENSE00002296409 005 16 89950937 89951106 + 53 75 42 T C 89950981 3558 45 TCAGGCAGAGGGACAGAGCACAGCCAGGCCCAACTCACGTACCGATGCTTCTCCCGTGCTGCTTTTCTTGTTTTTCTGTTTTTTTTTCTTCTTCCGGAGTTTGCCACTTGCATGAGACTAATGATGGAAACACATTTTCATCAGTAGAATGAGAAGTAAATCTTAAGAAG 89884528 89884698 89884572 89884573 89884573 upstr_intron -9 -0.1509434 CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCCATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA mutant NA NA NA NA NA 179 45 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0.001 0.893 . upstream_gene_variant MODIFIER TCF25 HGNC 29181 ENST00000566751 1 NA CTA T,C 2.471e-05 16:89884573 TCF25 HGNC Symbol protein_coding 40057 ENSG00000141002 ENSE00003583927 intron_variant 0.130951 0.25618 0.24489 0.256867 0.5369423 0.201309 0.05177828 FALSE 1.63191e-05 ENSE00002296409_008 ENSE00002296409 008 16 89950937 89951106 + 53 75 42 G T 89950996 3561 60 TCAGGCAGAGGGACAGAGCACAGCCAGGCCCAACTCACGTACCGATGCTTCTCCCGTGCTGCTTTTCTTGTTTTTCTGTTTTTTTTTCTTCTTCCGGAGTTTGCCACTTGAATGAGACTAATGATAGAAACACATTTTCATCAGTAGAATGAGAAGTAAATCTTAAGAAG 89884528 89884698 89884587 89884588 89884588 exon 7 0.09333333 CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATTCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA mutant NA NA NA NA NA 71 457 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0 -0.076 . upstream_gene_variant MODIFIER TCF25 HGNC 29181 ENST00000566751 1 NA TGC G,T 1.647e-05 16:89884588 TCF25 HGNC Symbol protein_coding 40057 ENSG00000141002 ENSE00003583927 missense_variant 0.911078 0.82566 0.06239 0.67177 0.9823768 0 0.05177828 FALSE 2.03381e-05 ENSE00002296409_028 ENSE00002296409 028 16 89950937 89951106 + 53 75 42 C T 89951079 3581 143 TCAGGCAGAGGGACAGAGCACAGCCAGACCCAACTCACGTACCGATGCTTCTCCCGTGCTGCTTTTCTTGTTTTTCTGTTTTTTTTTCTTCTTCCGGAGTTTGCCACTTGCATGAGACTAATGATAGAAACACATTTTCATCAGTAGAATGAGAAGTAAATCTTAAGAAG 89884528 89884698 89884670 89884671 89884671 downstr_intron 15 1.365854 CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGTCTGGCTGTGCTCTGTCCCTCTGCCTGA CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA mutant NA NA NA NA NA 15 33 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA 0 -2.137 . intron_variant&non_coding_transcript_variant MODIFIER TCF25 HGNC 29181 ENST00000566751 1/4 1 NA GCC C,T 3.295e-05 16:89884671 TCF25 HGNC Symbol protein_coding 40057 ENSG00000141002 ENSE00003583927 intron_variant -0.187208 0.14306 0.01163 0.099367 0.5021949 0.0476178 0.05177828 FALSE 1.26157e-05 ENSE00002296409_030 ENSE00002296409 030 16 89950937 89951106 + 53 75 42 G A 89951088 3583 152 TCAGGCAGAGGGACAGAGTACAGCCAGGCCCAACTCACGTACCGATGCTTCTCCCGTGCTGCTTTTCTTGTTTTTCTGTTTTTTTTTCTTCTTCCGGAGTTTGCCACTTGCATGAGACTAATGATAGAAACACATTTTCATCAGTAGAATGAGAAGTAAATCTTAAGAAG 89884528 89884698 89884679 89884680 89884680 downstr_intron 24 1.585366 CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTACTCTGTCCCTCTGCCTGA CTTCTTAAGATTTACTTCTCATTCTACTGATGAAAATGTGTTTCTATCATTAGTCTCATGCAAGTGGCAAACTCCGGAAGAAGAAAAAAAAACAGAAAAACAAGAAAAGCAGCACGGGAGAAGCATCGGTACGTGAGTTGGGCCTGGCTGTGCTCTGTCCCTCTGCCTGA mutant NA NA NA NA NA 46 20 1 0.9898816 0.9949408 NA NA 1 1 NA NA 0 -0.0101184 NA 1 NA -0.0050592 NA FALSE NA 0 0.028 . intron_variant&non_coding_transcript_variant MODIFIER TCF25 HGNC 29181 ENST00000566751 1/4 1 NA TGC G,A 1.648e-05 16:89884680 TCF25 HGNC Symbol protein_coding 40057 ENSG00000141002 ENSE00003583927 intron_variant 0.082408 0.15589 0.00264 0.099367 0.4891151 0.0476178 0.05177828 FALSE 4.26454e-06 ENSE00002300280_000 ENSE00002300280 000 16 71768482 71768651 - 30 99 41 NA NA NA NA NA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 NA NA NA NA NA NA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA natural 77 73 0.8428485 0.85 0.8464243 1680 1326 0.9204023 0.9148494 0.9176258 0.8428485 0.85 0.9204023 0.9148494 0 0 0 0 0.8464243 0.9176258 0 0 0 FALSE FALSE NA NA NA NA NA AP1G1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP1G1 NA NA NA ENSG00000166747 ENSE00002499967 NA NA NA NA NA NA NA 0.9999758 TRUE NA ENSE00002300280_001 ENSE00002300280 001 16 71768482 71768651 - 30 99 41 A G 71768498 2757 154 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATCTGTAGCCAATATCTGA 71734578 71734748 71734594 71734595 71734595 downstr_intron 14 1.482759 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATCTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant 33 29 0.85 0.85 0.85 91 242 0.9140804 0.95 0.9320402 0.8428485 0.85 0.9204023 0.9148494 0.007151494 0 -0.006321826 0.03515059 0.8464243 0.9176258 0.003575747 0.01441438 0.01083864 FALSE FALSE 0.391 3.928 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1/2 1 NA AAA A,G 8.236e-06 16:71734595 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 non_coding_transcript_exon_variant 1.350491 0.80762 0.86494 0.295142 0.7017993 0.28894 0.9999758 TRUE 4.06494e-06 ENSE00002300280_002 ENSE00002300280 002 16 71768482 71768651 - 30 99 41 T C 71768500 2758 152 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACGTTTGTAGCCAATATCTGA 71734578 71734748 71734596 71734597 71734597 downstr_intron 12 1.413793 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACGTTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 291 14 0.9749343 1 0.9874671 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.05453203 0.08515059 0.8464243 0.9176258 NA 0.06984131 NA FALSE NA 0.359 0.159 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71734597 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 non_coding_transcript_exon_variant 1.168403 0.86534 0.7574 0.295142 0.6630072 0.28894 0.9999758 TRUE 0.400574 ENSE00002300280_003 ENSE00002300280 003 16 71768482 71768651 - 30 99 41 T A 71768500 2759 152 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACTTTTGTAGCCAATATCTGA 71734578 71734748 71734596 71734597 71734597 downstr_intron 12 1.413793 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACTTTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant 37 32 0.85 0.85 0.85 615 1423 0.9902386 0.9671233 0.9786809 0.8428485 0.85 0.9204023 0.9148494 0.007151494 0 0.06983635 0.05227386 0.8464243 0.9176258 0.003575747 0.0610551 0.05747936 FALSE FALSE 0.359 0.159 NA NA NA AP1G1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP1G1 NA NA NA ENSG00000166747 ENSE00002499967 non_coding_transcript_exon_variant 1.641891 0.85202 0.71176 0.295142 0.7437106 0.28894 0.9999758 TRUE 3.25441e-05 ENSE00002300280_004 ENSE00002300280 004 16 71768482 71768651 - 30 99 41 G A 71768501 2760 151 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCATATTTGTAGCCAATATCTGA 71734578 71734748 71734597 71734598 71734598 downstr_intron 11 1.37931 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCATATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant 188 300 0.85 0.85 0.85 365 419 0.9655692 0.9500997 0.9578345 0.8428485 0.85 0.9204023 0.9148494 0.007151494 0 0.04516694 0.03525031 0.8464243 0.9176258 0.003575747 0.04020862 0.03663288 FALSE FALSE 0.976 1.97 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1/2 1 NA TGT G,A 1.647e-05 16:71734598 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 non_coding_transcript_exon_variant 1.393301 0.92325 0.86278 0.295142 0.7562458 0.288758 0.9999758 TRUE 1.21923e-05 ENSE00002300280_005 ENSE00002300280 005 16 71768482 71768651 - 30 99 41 G T 71768503 2761 149 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGAACATTTGTAGCCAATATCTGA 71734578 71734748 71734599 71734600 71734600 downstr_intron 9 1.310345 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGAACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 124 1061 0.95 0.8402616 0.8951308 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.02959774 -0.07458779 0.8464243 0.9176258 NA -0.02249503 NA FALSE NA 0.964 0.433 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA TGC G,T 2.471e-05 16:71734600 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 intron_variant 1.284417 0.91107 0.84233 0.295142 0.7240776 0.377817 0.9999758 TRUE NA ENSE00002300280_006 ENSE00002300280 006 16 71768482 71768651 - 30 99 41 C A 71768504 2762 148 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTATCACATTTGTAGCCAATATCTGA 71734578 71734748 71734600 71734601 71734601 downstr_intron 8 1.275862 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTATCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 254 72 0.9782039 0.95 0.964102 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.05780168 0.03515059 0.8464243 0.9176258 NA 0.04647614 NA FALSE NA 0.928 0.136 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA GCT C,A 2.471e-05 16:71734601 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 splice_region_variant 1.475246 0.9304 0.59104 0.295142 0.6062651 0.304077 0.9999758 TRUE NA ENSE00002300280_007 ENSE00002300280 007 16 71768482 71768651 - 30 99 41 T C 71768505 2763 147 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTGGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734601 71734602 71734602 downstr_intron 7 1.241379 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTGGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 2169 1867 0.6904626 0.7760591 0.7332609 0.8428485 0.85 0.9204023 0.9148494 NA NA -0.2299397 -0.1387903 0.8464243 0.9176258 NA -0.184365 NA FALSE NA 1 3.278 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA CTA T,C 5.765e-05 16:71734602 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 splice_region_variant 1.110368 0.96007 0.95239 0.295142 0.8363228 0.397098 0.9999758 TRUE 2.43797e-05 ENSE00002300280_008 ENSE00002300280 008 16 71768482 71768651 - 30 99 41 C A 71768507 2764 145 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGATTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734603 71734604 71734604 downstr_intron 5 1.172414 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGATTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant 82 51 0 0 0 158 193 0 0.00189942 0.0009497099 0.8428485 0.85 0.9204023 0.9148494 -0.8428485 -0.85 -0.9204023 -0.91295 0.8464243 0.9176258 -0.8464243 -0.9166761 0.07025187 TRUE TRUE 1 5.188 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA ACT C,A 2.471e-05 16:71734604 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 splice_region_variant 2.464477 0.99018 0.98901 0.295142 0.973961 0.984806 0.9999758 TRUE NA ENSE00002300280_009 ENSE00002300280 009 16 71768482 71768651 - 30 99 41 T C 71768513 2765 139 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAGGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734609 71734610 71734610 exon -2 0.989899 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAGGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 2292 487 0.0001668984 0.02584794 0.01300742 0.8428485 0.85 0.9204023 0.9148494 NA NA -0.9202354 -0.8890015 0.8464243 0.9176258 NA -0.9046184 NA TRUE NA 1 7.665 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA CTT T,C 2.471e-05 16:71734610 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 missense_variant 3.082906 0.99174 0.98746 0.706548 0.9962102 0 0.9999758 TRUE NA ENSE00002300280_011 ENSE00002300280 011 16 71768482 71768651 - 30 99 41 A G 71768518 2767 134 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCCCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734614 71734615 71734615 exon -7 0.9393939 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCCCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant 17 11 0.85 0.6586545 0.7543273 506 420 0.8449079 0.8329366 0.8389223 0.8428485 0.85 0.9204023 0.9148494 0.007151494 -0.1913455 -0.07549434 -0.08191283 0.8464243 0.9176258 -0.09209698 -0.07870359 0.01339339 FALSE FALSE 1 1.608 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA GAG A,G 3.301e-05 16:71734615 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 synonymous_variant 0.68825 0.97464 0.86132 0.706548 0.7498497 0 0.9999758 TRUE NA ENSE00002300280_012 ENSE00002300280 012 16 71768482 71768651 - 30 99 41 G A 71768520 2768 132 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACTCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734616 71734617 71734617 exon -9 0.9191919 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACTCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 183 261 0.9438773 0.95 0.9469386 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.02347501 0.03515059 0.8464243 0.9176258 NA 0.0293128 NA FALSE NA 1 9.435 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA GGG G,A 8.236e-06 16:71734617 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 missense_variant 3.241656 0.99402 0.99354 0.706548 0.9985124 0 0.9999758 TRUE 4.06167e-06 ENSE00002300280_013 ENSE00002300280 013 16 71768482 71768651 - 30 99 41 G T 71768526 2769 126 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTATGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734622 71734623 71734623 exon -15 0.8585859 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTATGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant 39 29 0.85 0.85 0.85 641 1030 0.8633721 0.8047719 0.834072 0.8428485 0.85 0.9204023 0.9148494 0.007151494 0 -0.05703021 -0.1100776 0.8464243 0.9176258 0.003575747 -0.08355388 0.08712963 FALSE FALSE 1 7.617 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA AGA G,T 3.295e-05 16:71734623 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 missense_variant 4.681856 0.99039 0.99042 0.706548 0.9929969 0 0.9999758 TRUE 2.03046e-05 ENSE00002300280_014 ENSE00002300280 014 16 71768482 71768651 - 30 99 41 T C 71768540 2770 112 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACGAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734636 71734637 71734637 exon -29 0.7171717 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACGAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 553 956 0.957486 0.9556675 0.9565767 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.03708372 0.04081809 0.8464243 0.9176258 NA 0.03895091 NA FALSE NA 1 7.665 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA TTG T,C 8.236e-06 16:71734637 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 missense_variant 5.841537 0.99174 0.98746 0.706548 0.9986722 0 0.9999758 TRUE 4.06078e-06 ENSE00002300280_016 ENSE00002300280 016 16 71768482 71768651 - 30 99 41 C T 71768554 2772 98 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACAGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734650 71734651 71734651 exon -43 0.5757576 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACAGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 242 234 0.2312766 0.05585282 0.1435647 0.8428485 0.85 0.9204023 0.9148494 NA NA -0.6891256 -0.8589966 0.8464243 0.9176258 NA -0.7740611 NA TRUE NA 0.004 -1.509 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 COSM273998 1 NA CCG C,T 8.236e-06 16:71734651 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 synonymous_variant 2.380106 0.59537 0.10936 0.706548 0.5677627 0 0.9999758 TRUE 8.1217e-06 ENSE00002300280_017 ENSE00002300280 017 16 71768482 71768651 - 30 99 41 T C 71768563 2773 89 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCGTTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734659 71734660 71734660 exon 48 0.4848485 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCGTTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 138 717 0.9504395 0.9523553 0.9513974 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.03003726 0.03750591 0.8464243 0.9176258 NA 0.03377158 NA FALSE NA 1 0.619 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 COSM1519650 1 NA ATG T,C 8.236e-06 16:71734660 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 synonymous_variant 0.965282 0.96379 0.88141 0.706548 0.6425871 0 0.9999758 TRUE NA ENSE00002300280_018 ENSE00002300280 018 16 71768482 71768651 - 30 99 41 T C 71768566 2774 86 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCGGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734662 71734663 71734663 exon 45 0.4545455 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCGGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 847 79 0.9696653 0.9757292 0.9726972 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.04926306 0.06087975 0.8464243 0.9176258 NA 0.05507141 NA FALSE NA 1 1.57 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 1 NA CTG T,C 2.471e-05 16:71734663 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 synonymous_variant 0.598715 0.96896 0.89609 0.706548 0.7125559 0 0.9999758 TRUE 1.21823e-05 ENSE00002300280_021 ENSE00002300280 021 16 71768482 71768651 - 30 99 41 T C 71768608 2777 44 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACGTTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734704 71734705 71734705 exon 3 0.03030303 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACGTTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 484 1098 0.9999149 0.9998559 0.9998854 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.07951268 0.08500653 0.8464243 0.9176258 NA 0.0822596 NA FALSE NA 1 0.96 . upstream_gene_variant MODIFIER AP1G1 HGNC 555 ENST00000570052 rs377002052 1 NA C:0 C:0.0001 ATG T,C 6.589e-05 16:71734705 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 splice_region_variant 1.196856 0.97255 0.92594 0.706548 0.8339006 0 0.9999758 TRUE 5.68574e-05 ENSE00002300280_022 ENSE00002300280 022 16 71768482 71768651 - 30 99 41 G C 71768615 2778 37 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCGCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734711 71734712 71734712 upstr_intron -5 -0.09756098 TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCGCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant 29 15 0 0 0 NA NA NA NA NA 0.8428485 0.85 0.9204023 0.9148494 -0.8428485 -0.85 NA NA 0.8464243 0.9176258 -0.8464243 NA NA NA TRUE 0 -0.519 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71734712 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 splice_region_variant 0.753776 0.21065 0.20685 0.156188 0.6255325 0.453137 0.9999758 TRUE 4.06217e-05 ENSE00002300280_025 ENSE00002300280 025 16 71768482 71768651 - 30 99 41 C A 71768622 2781 30 TGTAATTCTTTTTCTGAAGAGTGCCCTTTTTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 71734718 71734719 71734719 upstr_intron -12 -0.2682927 TGTAATTCTTTTTCTGAAGAGTGCCCTTTTTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA mutant NA NA NA NA NA 57 516 0.9307968 0.9807336 0.9557652 0.8428485 0.85 0.9204023 0.9148494 NA NA 0.01039449 0.06588415 0.8464243 0.9176258 NA 0.03813932 NA FALSE NA 0.996 0.344 NA NA NA AP1G1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71734719 AP1G1 HGNC Symbol protein_coding 80201 ENSG00000166747 ENSE00002499967 intron_variant 1.847801 0.38746 0.28766 0.062308 0.7384041 0.541559 0.9999758 TRUE 8.12843e-06 ENSE00002300280_BRK ENSE00002300280 BRK 16 71768482 71768651 - 30 99 41 A,G; T,T NA NA NA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTTTACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGCCGAGTAGCACATTTGTAGCCAATATCTGA 71734578 71734748 NA NA NA NA NA NA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTTTACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGCCGAGTAGCACATTTGTAGCCAATATCTGA TGTAATTCTTTTTCTGAAGAGTGCCCTTTGTTCCCCCCTAGACATTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACCATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAGGTGAGTAGCACATTTGTAGCCAATATCTGA control 36 92 0 0 0 NA NA NA NA NA 0.8428485 0.85 0.9204023 0.9148494 -0.8428485 -0.85 NA NA 0.8464243 0.9176258 -0.8464243 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AP1G1 NA NA NA ENSG00000166747 ENSE00002499967 NA NA NA NA NA NA NA 0.9999758 TRUE NA ENSE00002302801_000 ENSE00002302801 000 2 189943189 189943358 - 53 54 63 NA NA NA NA NA GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 NA NA NA NA NA NA GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT natural 155 128 0.9436318 0.9570612 0.9503465 11134 7302 0.8889322 0.940498 0.9147151 0.9436318 0.9570612 0.8889322 0.940498 0 0 0 0 0.9503465 0.9147151 0 0 0 FALSE FALSE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00002302801 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002302801_001 ENSE00002302801 001 2 189943189 189943358 - 53 54 63 C T 189943204 3824 155 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTATATTTCAATTCATTT 189078462 189078632 189078477 189078478 189078478 downstr_intron 38 1.730769 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTATATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 2133 770 0.9998842 0.9803673 0.9901257 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.110952 0.03986931 0.9503465 0.9147151 NA 0.07541064 NA FALSE NA 0 -1.153 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 16/53 1 NA ACA C 8.236e-06 2:189078478 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant -0.201254 0.16506 0.01369 0.088506 0.3221398 0.0689414 1 TRUE 4.06352e-06 ENSE00002302801_002 ENSE00002302801 002 2 189943189 189943358 - 53 54 63 C T 189943206 3825 153 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATATGTATTTCAATTCATTT 189078462 189078632 189078479 189078480 189078480 downstr_intron 36 1.692308 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATATGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 280 688 0.9974743 1 0.9987371 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1085421 0.05950203 0.9503465 0.9147151 NA 0.08402205 NA FALSE NA 0 -1.143 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 16/53 rs375879756 1 NA T:0 T:0.0001 ACA C 8.236e-06 2:189078480 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant -0.280667 0.09951 0.02793 0.088506 0.318491 0.118391 1 TRUE 2.43793e-05 ENSE00002302801_003 ENSE00002302801 003 2 189943189 189943358 - 53 54 63 G C 189943213 3826 146 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGGTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078486 189078487 189078487 downstr_intron 29 1.557692 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGGTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 247 1144 1 0.9461172 0.9730586 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1110678 0.005619279 0.9503465 0.9147151 NA 0.05834353 NA FALSE NA 0 -1.36 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 16/53 1 NA AGC G 2.471e-05 2:189078487 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant -0.116515 0.21134 0.07975 0.088506 0.5956104 0.118391 1 TRUE 2.03128e-05 ENSE00002302801_005 ENSE00002302801 005 2 189943189 189943358 - 53 54 63 A G 189943227 3828 132 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCCTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078500 189078501 189078501 downstr_intron 15 1.288462 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCCTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 888 243 0.9999536 0.9893744 0.994664 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1110214 0.04887639 0.9503465 0.9147151 NA 0.07994891 NA FALSE NA 0 0.418 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 16/53 1 NA AAG A 3.295e-05 2:189078501 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 0.288395 0.28422 0.21296 0.088506 0.7072617 0.118391 1 TRUE 3.25002e-05 ENSE00002302801_006 ENSE00002302801 006 2 189943189 189943358 - 53 54 63 T C 189943233 3829 126 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATGTCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078506 189078507 189078507 downstr_intron 9 1.173077 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATGTCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 1053 1617 1 0.9221511 0.9610755 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1110678 -0.01834688 0.9503465 0.9147151 NA 0.04636045 NA FALSE NA 0 -0.597 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 16/53 1 NA ATA T 8.236e-06 2:189078507 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 1.024356 0.14848 0.01337 0.088506 0.6055027 0.362641 1 TRUE 4.06217e-06 ENSE00002302801_008 ENSE00002302801 008 2 189943189 189943358 - 53 54 63 G C 189943253 3831 106 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCAGAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078526 189078527 189078527 exon -12 0.7962963 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCAGAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 638 1309 0.9966631 0.9996796 0.9981713 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1077309 0.05918159 0.9503465 0.9147151 NA 0.08345625 NA FALSE NA 1 3.453 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 16/54 1 possibly_damaging(0.803) NA TGT G 8.236e-06 2:189078527 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 missense_variant 4.686827 0.992 0.97057 0.732398 0.991305 0 1 TRUE 4.0619e-06 ENSE00002302801_009 ENSE00002302801 009 2 189943189 189943358 - 53 54 63 C G 189943266 3832 93 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGCAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078539 189078540 189078540 exon -25 0.5555556 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGCAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 573 745 1 1 1 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1110678 0.05950203 0.9503465 0.9147151 NA 0.08528491 NA FALSE NA 0.064 -0.322 rs148786600 synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 16/54 rs148786600 1 G:0.0042 G:0 G:0 NA G:0.0208 G:0 G:0 TCC C 0.001631 2:189078540 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 synonymous_variant 1.89003 0.93236 0.61502 0.732398 0.6722319 0 1 TRUE 0.00165723 ENSE00002302801_010 ENSE00002302801 010 2 189943189 189943358 - 53 54 63 G A 189943280 3833 79 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGTCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078553 189078554 189078554 exon 16 0.2962963 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGTCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 1544 530 0.9792112 0.9842284 0.9817198 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.09027902 0.04373043 0.9503465 0.9147151 NA 0.06700472 NA FALSE NA 1 5.85 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 16/54 rs538602187 1 benign(0.196) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGC G 5.765e-05 2:189078554 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 missense_variant 4.823739 0.99234 0.98435 0.732398 0.9992769 0 1 TRUE 4.87555e-05 ENSE00002302801_011 ENSE00002302801 011 2 189943189 189943358 - 53 54 63 C T 189943281 3834 78 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATACCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078554 189078555 189078555 exon 15 0.2777778 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATACCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 951 1049 0.9997088 1 0.9998544 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1107766 0.05950203 0.9503465 0.9147151 NA 0.08513931 NA FALSE NA 1 3.362 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 16/54 1 possibly_damaging(0.577) NA GCA C 4.118e-05 2:189078555 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 missense_variant 5.669238 0.99185 0.98204 0.732398 0.9966994 0 1 TRUE 3.65604e-05 ENSE00002302801_012 ENSE00002302801 012 2 189943189 189943358 - 53 54 63 T G 189943284 3835 75 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGCATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078557 189078558 189078558 exon 12 0.2222222 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGCATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 1174 527 0.9999299 0.9981001 0.999015 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1109977 0.05760208 0.9503465 0.9147151 NA 0.08429987 NA FALSE NA 0.988 0.12 rs140609193 synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 16/54 rs140609193 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0018 G:0 TTC T 0.00014 2:189078558 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 synonymous_variant 1.160672 0.96809 0.92301 0.732398 0.7286442 0 1 TRUE 9.75039e-05 ENSE00002302801_013 ENSE00002302801 013 2 189943189 189943358 - 53 54 63 C T 189943290 3836 69 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCAAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078563 189078564 189078564 exon 6 0.1111111 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCAAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 637 1574 0.8956361 0.9975698 0.946603 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.006703881 0.05707187 0.9503465 0.9147151 NA 0.03188788 NA FALSE NA 0.007 -1.587 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 16/54 1 NA TCG C 8.236e-06 2:189078564 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 synonymous_variant 1.94805 0.05794 0.00872 0.732398 0.5660391 0 1 TRUE 4.06273e-06 ENSE00002302801_014 ENSE00002302801 014 2 189943189 189943358 - 53 54 63 G A 189943291 3837 68 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCTGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078564 189078565 189078565 exon 5 0.09259259 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCTGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 494 1361 0.8984841 0.9763786 0.9374313 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.009551907 0.03588061 0.9503465 0.9147151 NA 0.02271626 NA FALSE NA 1 7.645 . missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 16/54 1 probably_damaging(0.994) NA CGG G 8.236e-06 2:189078565 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 missense_variant 5.885813 0.98759 0.99534 0.732398 0.9983345 0 1 TRUE 8.12684e-06 ENSE00002302801_015 ENSE00002302801 015 2 189943189 189943358 - 53 54 63 A G 189943293 3838 66 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGCCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078566 189078567 189078567 exon 3 0.05555556 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGCCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 980 3047 0.9993684 0.998777 0.9990727 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1104362 0.05827899 0.9503465 0.9147151 NA 0.08435759 NA FALSE NA 0.004 -1.451 . splice_region_variant&synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 16/54 1 NA GAC A 1.647e-05 2:189078567 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 splice_region_variant 1.285258 0.22205 0.04379 0.732398 0.735786 0 1 TRUE 8.12585e-06 ENSE00002302801_016 ENSE00002302801 016 2 189943189 189943358 - 53 54 63 C G 189943294 3839 65 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGCTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078567 189078568 189078568 exon 2 0.03703704 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGCTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 1200 978 0.9986895 0.9969848 0.9978371 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1097573 0.05648679 0.9503465 0.9147151 NA 0.08312202 NA FALSE NA 1 6.075 . missense_variant&splice_region_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 16/54 1 probably_damaging(0.993) NA ACC C 8.236e-06 2:189078568 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 missense_variant 6.180811 0.9921 0.99426 0.732398 0.9984386 0 1 TRUE 4.06303e-06 ENSE00002302801_017 ENSE00002302801 017 2 189943189 189943358 - 53 54 63 T C 189943299 3840 60 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTGTAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078572 189078573 189078573 upstr_intron -4 -0.04761905 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTGTAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 3678 1772 0.9899369 0.9986298 0.9942834 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1010047 0.05813183 0.9503465 0.9147151 NA 0.07956828 NA FALSE NA 0 -0.179 . splice_region_variant&intron_variant LOW COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA ATA T 8.236e-06 2:189078573 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 splice_region_variant -0.112718 0.14128 0.05407 0.088506 0.4758457 0.191241 1 TRUE 4.06312e-06 ENSE00002302801_018 ENSE00002302801 018 2 189943189 189943358 - 53 54 63 G A 189943304 3841 55 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATTGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078577 189078578 189078578 upstr_intron -9 -0.1269841 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATTGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 114 3988 0.998653 0.998507 0.99858 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1097208 0.05800904 0.9503465 0.9147151 NA 0.08386494 NA FALSE NA 0 -0.313 rs73978832 intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 rs73978832 1 A:0.0094 A:0.0023 A:0.0086 NA A:0.003 A:0.0278 A:0.0072 A:0.0048 A:0.0209 CGA G 0.017 2:189078578 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 0.002146 0.14069 0.01977 0.088506 0.5061581 0.1855 1 TRUE 0.0173068 ENSE00002302801_019 ENSE00002302801 019 2 189943189 189943358 - 53 54 63 G A 189943308 3842 51 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTTTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078581 189078582 189078582 upstr_intron -13 -0.1904762 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTTTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 510 1431 0.9418285 0.998632 0.9702303 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.0528963 0.05813407 0.9503465 0.9147151 NA 0.05551518 NA FALSE NA 0 -2.193 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA AGA G 8.237e-06 2:189078582 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant -0.014063 0.14178 0.02227 0.088506 0.3723874 0.117966 1 TRUE 8.12678e-06 ENSE00002302801_020 ENSE00002302801 020 2 189943189 189943358 - 53 54 63 T C 189943319 3843 40 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGGCATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078592 189078593 189078593 upstr_intron -24 -0.3650794 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGGCATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 83 1158 1 0.9992405 0.9996203 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1110678 0.05874255 0.9503465 0.9147151 NA 0.08490517 NA FALSE NA 0 -0.034 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA GTC T 1.647e-05 2:189078593 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 0.529264 0.22088 0.02027 0.088506 0.6756747 0.0788107 1 TRUE 1.219e-05 ENSE00002302801_021 ENSE00002302801 021 2 189943189 189943358 - 53 54 63 T C 189943323 3844 36 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAGGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078596 189078597 189078597 upstr_intron -28 -0.4285714 GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAGGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 109 1961 0.9985911 0.9899821 0.9942866 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1096589 0.04948414 0.9503465 0.9147151 NA 0.07957153 NA FALSE NA 0 -0.926 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA CTT T 8.237e-06 2:189078597 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 0.681787 0.25697 0.02895 0.088506 0.6990373 0.080235 1 TRUE 8.12711e-06 ENSE00002302801_022 ENSE00002302801 022 2 189943189 189943358 - 53 54 63 A T 189943326 3845 33 GTCAGACTACTCTACATTTCAAATTAGGTGCTACAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078599 189078600 189078600 upstr_intron -31 -0.4761905 GTCAGACTACTCTACATTTCAAATTAGGTGCTACAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 677 1854 0.9986549 0.99855 0.9986025 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1097227 0.05805208 0.9503465 0.9147151 NA 0.0838874 NA FALSE NA 0.032 1.619 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA GAA A 8.237e-06 2:189078600 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 0.729729 0.19847 0.11102 0.088506 0.7684866 0.0448725 1 TRUE 4.06392e-06 ENSE00002302801_023 ENSE00002302801 023 2 189943189 189943358 - 53 54 63 G A 189943328 3846 31 GTCAGACTACTCTACATTTCAAATTAGGTGTTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078601 189078602 189078602 upstr_intron -33 -0.5079365 GTCAGACTACTCTACATTTCAAATTAGGTGTTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 722 848 0.9967553 0.9949307 0.995843 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.107823 0.05443277 0.9503465 0.9147151 NA 0.08112791 NA FALSE NA 0 -0.265 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA AGC G 1.647e-05 2:189078602 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 0.834768 0.13981 0.03704 0.088506 0.7306253 0.0448725 1 TRUE 1.21933e-05 ENSE00002302801_025 ENSE00002302801 025 2 189943189 189943358 - 53 54 63 A G 189943334 3848 25 GTCAGACTACTCTACATTTCAAATCAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078607 189078608 189078608 upstr_intron -39 -0.6031746 GTCAGACTACTCTACATTTCAAATCAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 779 658 0.9972765 0.9967562 0.9970163 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1083442 0.05625824 0.9503465 0.9147151 NA 0.08230125 NA FALSE NA 0 -0.036 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 1 NA TAA A 1.647e-05 2:189078608 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 0.78767 0.19687 0.07229 0.088506 0.6486586 0.0443366 1 TRUE NA ENSE00002302801_026 ENSE00002302801 026 2 189943189 189943358 - 53 54 63 G T 189943339 3849 20 GTCAGACTACTCTACATTTAAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 189078612 189078613 189078613 upstr_intron -44 -0.6825397 GTCAGACTACTCTACATTTAAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT mutant NA NA NA NA NA 713 1455 0.9994794 0.9987531 0.9991162 0.9436318 0.9570612 0.8889322 0.940498 NA NA 0.1105472 0.05825512 0.9503465 0.9147151 NA 0.08440114 NA FALSE NA 0.001 0.336 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 15/53 rs560438156 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TGA G 0.000173 2:189078613 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00002302801 intron_variant 0.324137 0.19986 0.05575 0.088506 0.6738284 0.0443366 1 TRUE 0.000138247 ENSE00002302801_BRK ENSE00002302801 BRK 2 189943189 189943358 - 53 54 63 A,G; T,T NA NA NA GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATTTGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTCCAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT 189078462 189078632 NA NA NA NA NA NA GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATTTGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTCCAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT GTCAGACTACTCTACATTTCAAATTAGGTGCTTCAAGAGACATTTCTTCTCTATCGTCTATAGGGTCCGAGGGGAATGCCAGGAGAGAGAGGGAGACTTGGGCCACAGGGTGCTCCTGTAAGTATATCTGCTTTTACTTATACTGCTGAGATGTGTATTTCAATTCATTT control 877 625 0 0 0 NA NA NA NA NA 0.9436318 0.9570612 0.8889322 0.940498 -0.9436318 -0.9570612 NA NA 0.9503465 0.9147151 -0.9503465 NA NA NA TRUE NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00002302801 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002303011_000 ENSE00002303011 000 16 69196944 69197113 + 42 96 32 NA NA NA NA NA TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 NA NA NA NA NA NA TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT natural 11 16 0.9991938 0.9970712 0.9981325 2572 2532 0.9962813 0.9950384 0.9956599 0.9991938 0.9970712 0.9962813 0.9950384 0 0 0 0 0.9981325 0.9956599 0 0 0 FALSE FALSE NA NA NA NA NA CIRH1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTP4 NA NA NA ENSG00000141076 ENSE00002667660 NA NA NA NA NA NA NA NA NA NA ENSE00002303011_001 ENSE00002303011 001 16 69196944 69197113 + 42 96 32 C T 69196960 2314 17 TGTCACTTAGAGTTGCTACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163056 69163057 69163057 upstr_intron -26 -0.5952381 TGTCACTTAGAGTTGCTACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 812 22 0.9437513 0.8 0.8718756 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.05253006 -0.1950384 0.9981325 0.9956599 NA -0.1237843 NA FALSE NA 0 -0.486 rs4783700 intron_variant MODIFIER CIRH1A HGNC 1983 ENST00000314423 13/16 rs551358680 1 T:0.0122 T:0.0008 T:0.0749 NA T:0.0079 T:0 T:0 T:0.0018 T:0.0005 CCA C,T 0.013 16:69163057 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 intron_variant 0.204054 0.13312 0.00893 0.295142 0.4617292 0.0490229 NA NA 0.0166445 ENSE00002303011_002 ENSE00002303011 002 16 69196944 69197113 + 42 96 32 T C 69196970 2315 27 TGTCACTTAGAGTTGCCACTTGTGTCCGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163066 69163067 69163067 upstr_intron -16 -0.3571429 TGTCACTTAGAGTTGCCACTTGTGTCCGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 435 617 0.9958596 0.9914197 0.9936397 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.000421771 -0.0036187 0.9981325 0.9956599 NA -0.002020236 NA FALSE NA 0.021 0.902 . intron_variant MODIFIER CIRH1A HGNC 1983 ENST00000314423 13/16 rs552438928 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTG T,C 8.236e-06 16:69163067 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 intron_variant -0.004068 0.22082 0.1721 0.295142 0.4829296 0.0700598 NA NA 1.62422e-05 ENSE00002303011_004 ENSE00002303011 004 16 69196944 69197113 + 42 96 32 C G 69196981 2317 38 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTGCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163077 69163078 69163078 upstr_intron -5 -0.0952381 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTGCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 246 1502 0.9924388 0.997137 0.9947879 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.003842571 0.002098573 0.9981325 0.9956599 NA -0.0008719993 NA FALSE NA 0.028 1.021 . splice_region_variant&intron_variant LOW CIRH1A HGNC 1983 ENST00000314423 13/16 1 NA TCC C,G 8.236e-06 16:69163078 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 splice_region_variant 1.214716 0.97496 0.62235 0.295142 0.7522263 0.213821 NA NA 1.21817e-05 ENSE00002303011_005 ENSE00002303011 005 16 69196944 69197113 + 42 96 32 C T 69196983 2318 40 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCTAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163079 69163080 69163080 upstr_intron -3 -0.04761905 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCTAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 812 1326 0.8840641 0.9968985 0.9404813 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.1122173 0.001860096 0.9981325 0.9956599 NA -0.05517858 NA FALSE NA 0.643 1.131 . splice_region_variant&intron_variant LOW CIRH1A HGNC 1983 ENST00000314423 13/16 rs377416074 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 CCA C,T 8.236e-06 16:69163080 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 splice_region_variant 1.576386 0.97572 0.75896 0.295142 0.7656282 0.213821 NA NA 8.1211e-06 ENSE00002303011_006 ENSE00002303011 006 16 69196944 69197113 + 42 96 32 C T 69196996 2319 53 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCATGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163092 69163093 69163093 exon 11 0.1145833 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCATGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 149 772 1 0.9917158 0.9958579 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 -0.003322642 0.9981325 0.9956599 NA 0.0001980131 NA FALSE NA 0.996 3.253 . missense_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 1 tolerated(0.08) benign(0.146) NA ACG C,T 6.589e-05 16:69163093 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 3.908796 0.98405 0.9493 0.732398 0.9938771 0 NA NA 3.6545e-05 ENSE00002303011_008 ENSE00002303011 008 16 69196944 69197113 + 42 96 32 G A 69196998 2321 55 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGATGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163094 69163095 69163095 exon 13 0.1354167 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGATGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 1022 621 1 0.8774916 0.9387458 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 -0.1175469 0.9981325 0.9956599 NA -0.0569141 NA FALSE NA 1 5.456 . missense_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 1 deleterious(0.01) possibly_damaging(0.837) NA GGT G,A 8.236e-06 16:69163095 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 5.930711 0.9647 0.98056 0.732398 0.9982875 0 NA NA 4.06055e-06 ENSE00002303011_010 ENSE00002303011 010 16 69196944 69197113 + 42 96 32 A G 69197018 2323 75 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCGGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163114 69163115 69163115 exon 33 0.34375 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCGGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant 13 12 0.85 0.9783678 0.9141839 152 185 0.9761163 1 0.9880581 0.9991938 0.9970712 0.9962813 0.9950384 -0.1491938 -0.01870349 -0.02016508 0.004961554 0.9981325 0.9956599 -0.08394865 -0.007601763 0.07634689 FALSE FALSE 0.051 -0.971 . synonymous_variant LOW CIRH1A HGNC 1983 ENST00000314423 14/17 rs538492909 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAG A,G 8.236e-06 16:69163115 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 synonymous_variant 0.387359 0.9402 0.18533 0.706548 0.5368792 0 NA NA 4.06058e-06 ENSE00002303011_011 ENSE00002303011 011 16 69196944 69197113 + 42 96 32 T C 69197024 2324 81 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACCGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163120 69163121 69163121 exon 39 0.40625 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACCGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 563 45 1 0.9852129 0.9926064 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 -0.009825577 0.9981325 0.9956599 NA -0.003053455 NA FALSE NA 0.972 0.267 . synonymous_variant LOW CIRH1A HGNC 1983 ENST00000314423 14/17 1 NA CTG T,C 1.647e-05 16:69163121 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 synonymous_variant 0.857307 0.96805 0.83843 0.706548 0.7357703 0 NA NA 1.21817e-05 ENSE00002303011_013 ENSE00002303011 013 16 69196944 69197113 + 42 96 32 A G 69197028 2326 85 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTGTGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163124 69163125 69163125 exon 43 0.4479167 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTGTGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 1396 228 0.9212285 1 0.9606142 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.07505284 0.004961554 0.9981325 0.9956599 NA -0.03504564 NA FALSE NA 0.995 0.454 . missense_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 1 tolerated(0.08) benign(0.005) NA TAT A,G 8.236e-06 16:69163125 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 1.517677 0.96291 0.82863 0.706548 0.9160375 0 NA NA 8.12117e-06 ENSE00002303011_014 ENSE00002303011 014 16 69196944 69197113 + 42 96 32 A G 69197034 2327 91 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTGTTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163130 69163131 69163131 exon -48 0.5104167 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTGTTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 296 17 1 1 1 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 0.004961554 0.9981325 0.9956599 NA 0.004340111 NA FALSE NA 1 5.257 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:69163131 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 4.040833 0.98603 0.98485 0.706548 0.994674 0 NA NA 4.06058e-05 ENSE00002303011_015 ENSE00002303011 015 16 69196944 69197113 + 42 96 32 A T 69197034 2328 91 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTTTTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163130 69163131 69163131 exon -48 0.5104167 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTTTTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 54 80 1 0.96663 0.983315 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 -0.02840849 0.9981325 0.9956599 NA -0.01234491 NA FALSE NA 1 5.257 NA NA NA CIRH1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTP4 NA NA NA ENSG00000141076 ENSE00002667660 missense_variant 2.556747 0.98628 0.98782 0.706548 0.8430203 0 NA NA 4.06058e-06 ENSE00002303011_016 ENSE00002303011 016 16 69196944 69197113 + 42 96 32 A G 69197043 2329 100 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCGATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163139 69163140 69163140 exon -39 0.6041667 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCGATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 50 139 1 1 1 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 0.004961554 0.9981325 0.9956599 NA 0.004340111 NA FALSE NA 0 1.25 . missense_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 1 tolerated(0.49) benign(0.004) NA CAA A,G 8.236e-06 16:69163140 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 2.532548 0.48159 0.13078 0.706548 0.9914969 0 NA NA 1.21818e-05 ENSE00002303011_017 ENSE00002303011 017 16 69196944 69197113 + 42 96 32 A G 69197044 2330 101 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAGTACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163140 69163141 69163141 exon -38 0.6145833 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAGTACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 264 1038 1 0.9982864 0.9991432 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 0.003247944 0.9981325 0.9956599 NA 0.003483306 NA FALSE NA 0 -0.046 rs138922775 missense_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 rs138922775 1 tolerated(0.65) benign(0.002) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAT A,G 8.236e-05 16:69163141 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 0.362228 0.28021 0.10085 0.706548 0.6695747 0 NA NA 6.90299e-05 ENSE00002303011_018 ENSE00002303011 018 16 69196944 69197113 + 42 96 32 A G 69197046 2331 103 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATGCCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163142 69163143 69163143 exon -36 0.6354167 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATGCCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 2035 195 0.9913754 1 0.9956877 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.004905964 0.004961554 0.9981325 0.9956599 NA 2.779499e-05 NA FALSE NA 1 5.243 . missense_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 1 deleterious(0.02) possibly_damaging(0.783) NA TAC A,G 8.236e-06 16:69163143 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 4.96607 0.99107 0.98455 0.706548 0.9986387 0 NA NA 4.06058e-06 ENSE00002303011_019 ENSE00002303011 019 16 69196944 69197113 + 42 96 32 A C 69197050 2332 107 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCACCAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163146 69163147 69163147 exon -32 0.6770833 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCACCAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 484 430 1 0.9999114 0.9999557 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 0.004873001 0.9981325 0.9956599 NA 0.004295835 NA FALSE NA 1 4.946 . missense_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 1 deleterious(0.01) possibly_damaging(0.654) NA AAC A,C 8.236e-06 16:69163147 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 4.668548 0.98535 0.9797 0.706548 0.990325 0 NA NA NA ENSE00002303011_020 ENSE00002303011 020 16 69196944 69197113 + 42 96 32 C T 69197063 2333 120 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATTGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163159 69163160 69163160 exon -19 0.8125 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATTGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 15 122 0.9616489 0.9795897 0.9706193 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.03463246 -0.01544874 0.9981325 0.9956599 NA -0.0250406 NA FALSE NA 0.005 -1.648 . synonymous_variant LOW CIRH1A HGNC 1983 ENST00000314423 14/17 rs554592005 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCG C,T 9.884e-05 16:69163160 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 synonymous_variant 2.744291 0.93158 0.04297 0.706548 0.796404 0 NA NA 9.33942e-05 ENSE00002303011_021 ENSE00002303011 021 16 69196944 69197113 + 42 96 32 C T 69197071 2334 128 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTTGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163167 69163168 69163168 exon -11 0.8958333 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTTGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant 29 13 1 0.9995799 0.9997899 1086 1273 1 0.9965718 0.9982859 0.9991938 0.9970712 0.9962813 0.9950384 0.0008061848 0.002508644 0.003718668 0.001533305 0.9981325 0.9956599 0.001657414 0.002625986 0.000968572 FALSE FALSE 1 6.73 . missense_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 COSM3818364 1 deleterious(0.01) benign(0.382) NA TCG C,T 1.647e-05 16:69163168 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 6.489279 0.99275 0.99465 0.706548 0.9984418 0 NA NA 1.62425e-05 ENSE00002303011_022 ENSE00002303011 022 16 69196944 69197113 + 42 96 32 G A 69197072 2335 129 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCAGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163168 69163169 69163169 exon -10 0.90625 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCAGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 621 1016 0.989131 0.9986019 0.9938664 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.007150362 0.003563471 0.9981325 0.9956599 NA -0.001793446 NA FALSE NA 0.224 -1.055 . synonymous_variant LOW CIRH1A HGNC 1983 ENST00000314423 14/17 1 NA CGG G,A 1.647e-05 16:69163169 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 synonymous_variant 2.222128 0.92938 0.14153 0.706548 0.7515798 0 NA NA 8.12123e-06 ENSE00002303011_025 ENSE00002303011 025 16 69196944 69197113 + 42 96 32 A G 69197080 2338 137 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCGGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT 69163040 69163210 69163176 69163177 69163177 exon -2 0.9895833 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCGGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 304 5023 0.9595664 0.9954509 0.9775086 0.9991938 0.9970712 0.9962813 0.9950384 NA NA -0.03671493 0.0004124139 0.9981325 0.9956599 NA -0.01815126 NA FALSE NA 1 8.042 . missense_variant&splice_region_variant MODERATE CIRH1A HGNC 1983 ENST00000314423 14/17 1 deleterious(0.02) probably_damaging(0.919) NA CAG A,G 8.236e-06 16:69163177 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 missense_variant 6.300555 0.99092 0.99623 0.719381 0.9981963 0 NA NA 4.06072e-06 ENSE00002303011_026 ENSE00002303011 026 16 69196944 69197113 + 42 96 32 C G 69197094 2339 151 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTGCAGTGCTTTCTATTCCCTT 69163040 69163210 69163190 69163191 69163191 downstr_intron 13 1.419355 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTGCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 311 2785 0.9974583 0.9970697 0.997264 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.001177008 0.002031236 0.9981325 0.9956599 NA 0.001604122 NA FALSE NA 0 -0.037 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:69163191 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 intron_variant -0.203057 0.14554 0.16952 0.091178 0.5345486 0.0969417 NA NA NA ENSE00002303011_027 ENSE00002303011 027 16 69196944 69197113 + 42 96 32 C T 69197094 2340 151 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTTCAGTGCTTTCTATTCCCTT 69163040 69163210 69163190 69163191 69163191 downstr_intron 13 1.419355 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTTCAGTGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 12 352 1 1 1 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 0.004961554 0.9981325 0.9956599 NA 0.004340111 NA FALSE NA 0 -0.037 NA NA NA CIRH1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTP4 NA NA NA ENSG00000141076 ENSE00002667660 intron_variant -0.043601 0.14149 0.07884 0.091178 0.6551924 0.0969417 NA NA 4.06095e-06 ENSE00002303011_028 ENSE00002303011 028 16 69196944 69197113 + 42 96 32 T G 69197098 2341 155 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGGGCTTTCTATTCCCTT 69163040 69163210 69163194 69163195 69163195 downstr_intron 17 1.548387 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGGGCTTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 23 655 1 1 1 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.003718668 0.004961554 0.9981325 0.9956599 NA 0.004340111 NA FALSE NA 0 0.293 . intron_variant MODIFIER CIRH1A HGNC 1983 ENST00000314423 14/16 1 NA GTG T,G 8.236e-06 16:69163195 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 intron_variant 0.464589 0.33019 0.18079 0.091178 0.5570122 0.568328 NA NA 2.8428e-05 ENSE00002303011_029 ENSE00002303011 029 16 69196944 69197113 + 42 96 32 T C 69197101 2342 158 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCCTTCTATTCCCTT 69163040 69163210 69163197 69163198 69163198 downstr_intron 20 1.645161 TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCCTTCTATTCCCTT TGTCACTTAGAGTTGCCACTTGTGTCTGTTATTTGTTCCCAGCTTCACTGCACGGTGCCTGCTTACAATTTCCCAGTGACTGCTATGGCTATTGCCCCCAATACCAACAACCTTGTCATCGCTCATTCGGACCAGCAGGTAAGGGAGATTCCAGTGCTTTCTATTCCCTT mutant NA NA NA NA NA 2557 147 0.9992801 0.9994805 0.9993803 0.9991938 0.9970712 0.9962813 0.9950384 NA NA 0.002998735 0.004442088 0.9981325 0.9956599 NA 0.003720411 NA FALSE NA 0.016 1.176 . intron_variant MODIFIER CIRH1A HGNC 1983 ENST00000314423 14/16 1 NA CTT T,C 3.295e-05 16:69163198 UTP4 HGNC Symbol protein_coding 99839 ENSG00000141076 ENSE00002667660 intron_variant 0.159589 0.18256 0.0605 0.091178 0.5545025 0.0969417 NA NA 5.27957e-05 ENSE00002303317_000 ENSE00002303317 000 19 49601840 49602009 + 59 63 48 NA NA NA NA NA TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 NA NA NA NA NA NA TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG natural 169 191 0.9908899 0.9958612 0.9933755 3522 3836 0.9313902 0.9891301 0.9602602 0.9908899 0.9958612 0.9313902 0.9891301 0 0 0 0 0.9933755 0.9602602 0 0 0 FALSE FALSE NA NA NA NA NA SNRNP70 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNRNP70 NA NA NA ENSG00000104852 ENSE00003683920 NA NA NA NA NA NA NA 0.9930951 TRUE NA ENSE00002303317_003 ENSE00002303317 003 19 49601840 49602009 + 59 63 48 A G 49601871 2893 32 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCGTTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 49098613 49098614 49098614 upstr_intron -28 -0.4576271 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCGTTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 341 786 1 1 1 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.06860977 0.01086989 0.9933755 0.9602602 NA 0.03973983 NA FALSE NA 0 -2.304 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA CAT A,G 8.236e-06 19:49098614 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 intron_variant 0.579537 0.18244 0.11031 0.256867 0.6124641 0.055107 0.9930951 TRUE 1.21822e-05 ENSE00002303317_004 ENSE00002303317 004 19 49601840 49602009 + 59 63 48 C T 49601877 2894 38 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAATGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 49098619 49098620 49098620 upstr_intron -22 -0.3559322 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAATGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 863 23 0.866285 0.7565006 0.8113928 0.9908899 0.9958612 0.9313902 0.9891301 NA NA -0.06510528 -0.2326295 0.9933755 0.9602602 NA -0.1488674 NA FALSE NA 0 0.34 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA ACG C,T 8.236e-06 19:49098620 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 intron_variant 0.568023 0.2882 0.25363 0.256867 0.7758028 0.055107 0.9930951 TRUE 8.12156e-06 ENSE00002303317_005 ENSE00002303317 005 19 49601840 49602009 + 59 63 48 G A 49601878 2895 39 CCTCCTCCATGCACCCCCAATTCAAACACCCTGACCCACTCCACTTACTCTTTTGATAGGTCCGTACACCTCAAACTCTCTCCGGAGCTTGGATTCTGTTGTGTCATAATTCTACAAGGAGATGGATATGATGTTAAATGGGAGAACAGAGCTGTCCCACAGCCCCTGGA 49098582 49098752 49098620 49098621 49098621 upstr_intron -21 -0.3389831 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACATCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 198 1375 0.9953233 0.9995159 0.9974196 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.06393307 0.0103858 0.9933755 0.9602602 NA 0.03715944 NA FALSE NA 0 -0.418 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 rs200623211 1 NA A:0 A:0.0003 CGT G,A 0.0003212 19:49098621 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 intron_variant 0.16454 0.24504 0.16164 0.256867 0.6983646 0.0476178 0.9930951 TRUE 0.000349224 ENSE00002303317_007 ENSE00002303317 007 19 49601840 49602009 + 59 63 48 C G 49601885 2897 46 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATGCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 49098627 49098628 49098628 upstr_intron -14 -0.220339 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATGCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 88 984 0.9966797 0.9842313 0.9904555 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.06528948 -0.004898847 0.9933755 0.9602602 NA 0.03019532 NA FALSE NA 0 -0.161 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 rs370220674 1 NA G:0 G:0.0001 TCC C,G 1.647e-05 19:49098628 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 intron_variant 0.035264 0.2535 0.34658 0.256867 0.2941634 0.0476178 0.9930951 TRUE 1.62427e-05 ENSE00002303317_008 ENSE00002303317 008 19 49601840 49602009 + 59 63 48 C T 49601892 2898 53 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCTTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 49098634 49098635 49098635 upstr_intron -7 -0.1016949 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCTTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 277 361 1 0.999365 0.9996825 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.06860977 0.01023485 0.9933755 0.9602602 NA 0.03942231 NA FALSE NA 0 -0.02 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA CCT C,T 8.236e-06 19:49098635 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 splice_region_variant 0.558135 0.34563 0.13429 0.256867 0.5876564 0.055107 0.9930951 TRUE 4.06065e-06 ENSE00002303317_009 ENSE00002303317 009 19 49601840 49602009 + 59 63 48 T C 49601896 2899 57 CCTCCTCCATGCACCCCCAATTCAAACACCCTGACCCACTCCACTTACTCTTTTGATAGGTCCGTACACCTCAAACTCTCTCCGGAGCTTGGATTCTGTTGTGTCATAATTCTGCAAGGAGATGGATATGACGTTAAATGGGAGAACAGAGCTGTCCCACAGCCCCTGGA 49098582 49098752 49098638 49098639 49098639 upstr_intron -3 -0.03389831 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGCAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 385 283 1 0.9899956 0.9949978 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.06860977 0.0008654875 0.9933755 0.9602602 NA 0.03473763 NA FALSE NA 0.924 2.025 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA GTA T,C 8.236e-06 19:49098639 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 splice_region_variant 1.180117 0.91547 0.564 0.256867 0.8004734 0.414157 0.9930951 TRUE 8.12123e-06 ENSE00002303317_011 ENSE00002303317 011 19 49601840 49602009 + 59 63 48 G A 49601922 2901 83 CCTCCTCCATGCACCCCCAATTCAAACACCCTGACCCACTCCACTTACTCTTTTGATAGGTCCGTACACCTCAAACTCTCTCCGGAGTTTGGATTCTGTTGTGTCATAATTCTACAAGGAGATGGATATGACGTTAAATGGGAGAACAGAGCTGTCCCACAGCCCCTGGA 49098582 49098752 49098664 49098665 49098665 exon 24 0.3809524 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAACTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 823 230 0.8018814 0.8010984 0.8014899 0.9908899 0.9958612 0.9313902 0.9891301 NA NA -0.1295088 -0.1880317 0.9933755 0.9602602 NA -0.1587703 NA FALSE NA 1 1.771 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA AGC G,A 1.647e-05 19:49098665 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 synonymous_variant 1.463425 0.9249 0.85826 0.67177 0.6905576 0 0.9930951 TRUE 1.21821e-05 ENSE00002303317_012 ENSE00002303317 012 19 49601840 49602009 + 59 63 48 C T 49601926 2902 87 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCTGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 49098668 49098669 49098669 exon 28 0.4444444 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCTGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 28 558 0.9542736 0.7986881 0.8764808 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.02288333 -0.190442 0.9933755 0.9602602 NA -0.08377933 NA FALSE NA 1 3.331 rs11539820 downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 rs11539820&COSM4079983 1 NA CCG C,T 8.236e-06 19:49098669 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 missense_variant 8.128357 0.95943 0.91807 0.67177 0.9992832 0 0.9930951 TRUE 4.06068e-06 ENSE00002303317_013 ENSE00002303317 013 19 49601840 49602009 + 59 63 48 C T 49601955 2903 116 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATTAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 49098697 49098698 49098698 exon -7 0.9047619 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATTAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 1854 951 0.9882296 0.9836447 0.9859372 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.0568394 -0.005485379 0.9933755 0.9602602 NA 0.02567701 NA FALSE NA 0.998 0.585 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA TCA C,T 8.236e-06 19:49098698 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 synonymous_variant 1.680425 0.92517 0.80462 0.67177 0.8140671 0 0.9930951 TRUE 4.06164e-06 ENSE00002303317_014 ENSE00002303317 014 19 49601840 49602009 + 59 63 48 G T 49601969 2904 130 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGTAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 49098711 49098712 49098712 downstr_intron 8 1.170213 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGTAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 314 1001 0.9547553 0.9571531 0.9559542 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.02336505 -0.03197701 0.9933755 0.9602602 NA -0.004305983 NA FALSE NA 0.401 0.939 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 rs377134508 1 NA T:0 T:0.0001 GGA G,T 1.647e-05 19:49098712 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 splice_region_variant 0.103249 0.26478 0.27386 0.069865 0.5949099 0.0559639 0.9930951 TRUE NA ENSE00002303317_015 ENSE00002303317 015 19 49601840 49602009 + 59 63 48 G C 49601973 2905 134 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTCGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 49098715 49098716 49098716 downstr_intron 12 1.255319 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTCGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 133 655 1 0.979798 0.989899 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.06860977 -0.009332113 0.9933755 0.9602602 NA 0.02963883 NA FALSE NA 0.008 1.06 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA TGG G,C 8.236e-06 19:49098716 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 intron_variant -0.229992 0.26942 0.06251 0.069865 0.4947263 0.0483959 0.9930951 TRUE 4.0664e-06 ENSE00002303317_017 ENSE00002303317 017 19 49601840 49602009 + 59 63 48 T G 49601990 2907 151 CCTCCTCCATGCACCCCCACTTCAAACACCCTGACCCACTCCACTTACTCTTTTGATAGGTCCGTACACCTCAAACTCTCTCCGGAGCTTGGATTCTGTTGTGTCATAATTCTACAAGGAGATGGATATGACGTTAAATGGGAGAACAGAGCTGTCCCACAGCCCCTGGA 49098582 49098752 49098732 49098733 49098733 downstr_intron 29 1.617021 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAAGTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 575 24 1 0.9207824 0.9603912 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.06860977 -0.06834775 0.9933755 0.9602602 NA 0.0001310069 NA FALSE NA 0 -1.217 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA ATT T,G 8.236e-06 19:49098733 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 intron_variant 0.73713 0.19701 0.08232 0.115753 0.7466467 0.0483959 0.9930951 TRUE 2.44509e-05 ENSE00002303317_018 ENSE00002303317 018 19 49601840 49602009 + 59 63 48 G A 49601992 2908 153 CCTCCTCCATGCACCCCTAATTCAAACACCCTGACCCACTCCACTTACTCTTTTGATAGGTCCGTACACCTCAAACTCTCTCCGGAGCTTGGATTCTGTTGTGTCATAATTCTACAAGGAGATGGATATGACGTTAAATGGGAGAACAGAGCTGTCCCACAGCCCCTGGA 49098582 49098752 49098734 49098735 49098735 downstr_intron 31 1.659574 TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTAGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG mutant NA NA NA NA NA 176 732 0.9855984 0.9820692 0.9838338 0.9908899 0.9958612 0.9313902 0.9891301 NA NA 0.05420817 -0.007060863 0.9933755 0.9602602 NA 0.02357365 NA FALSE NA 0 0.083 . downstream_gene_variant MODIFIER SNRNP70 HGNC 11150 ENST00000601411 1 NA TGG G,A 8.236e-06 19:49098735 SNRNP70 HGNC Symbol protein_coding 23186 ENSG00000104852 ENSE00003683920 intron_variant 0.654946 0.30256 0.11576 0.115753 0.7929394 0.0483959 0.9930951 TRUE 4.0788e-06 ENSE00002303317_BRK ENSE00002303317 BRK 19 49601840 49602009 + 59 63 48 A,G; T,T NA NA NA TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTTTAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGACCAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG 49098582 49098752 NA NA NA NA NA NA TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTTTAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGACCAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG TCCAGGGGCTGTGGGACAGCTCTGTTCTCCCATTTAACGTCATATCCATCTCCTTGTAGAATTATGACACAACAGAATCCAAGCTCCGGAGAGAGTTTGAGGTGTACGGACCTATCAAAAGAGTAAGTGGAGTGGGTCAGGGTGTTTGAATTGGGGGTGCATGGAGGAGG control NA NA NA NA NA 102 542 0 0 0 0.9908899 0.9958612 0.9313902 0.9891301 NA NA -0.9313902 -0.9891301 0.9933755 0.9602602 NA -0.9602602 NA TRUE NA NA NA NA NA NA SNRNP70 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNRNP70 NA NA NA ENSG00000104852 ENSE00003683920 NA NA NA NA NA NA NA 0.9930951 TRUE NA ENSE00002306305_000 ENSE00002306305 000 1 160122895 160123064 + 60 60 50 NA NA NA NA NA CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 NA NA NA NA NA NA CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG natural NA NA NA NA NA 2185 713 0.8611831 0.8225712 0.8418772 NA NA 0.8611831 0.8225712 NA NA 0 0 NA 0.8418772 NA 0 NA FALSE NA NA NA NA NA NA ATP1A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP1A4 NA NA NA ENSG00000132681 ENSE00002306305 NA NA NA NA NA NA NA 1.897333e-11 FALSE NA ENSE00002306305_002 ENSE00002306305 002 1 160122895 160123064 + 60 60 50 C G 160122912 3872 18 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCACGTCATTTCCAGGGAGAG 160153104 160153274 160153121 160153122 160153122 upstr_intron -43 -0.7 CTCTCCCTGGAAATGACGTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 16 78 0.8 0.8242146 0.8121073 NA NA 0.8611831 0.8225712 NA NA -0.06118312 0.001643409 NA 0.8418772 NA -0.02976985 NA FALSE NA 0 0.801 . intron_variant&NMD_transcript_variant MODIFIER ATP1A4 HGNC 14073 ENST00000477338 1/21 rs542809948 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CCT C,G 8.236e-06 1:160153122 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 intron_variant 0.783348 0.47266 0.16696 0.06567 0.8054384 0.505506 1.897333e-11 FALSE 8.15268e-06 ENSE00002306305_003 ENSE00002306305 003 1 160122895 160123064 + 60 60 50 C T 160122918 3873 24 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTAGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153127 160153128 160153128 upstr_intron -37 -0.6 CTCTCCCTGGAAATGACCTGGGCTACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant 42 68 0.85 0.85 0.85 305 583 0.8108885 0.8557497 0.8333191 NA NA 0.8611831 0.8225712 NA NA -0.05029457 0.03317851 NA 0.8418772 NA -0.008558032 NA FALSE NA 0 0.392 . intron_variant&NMD_transcript_variant MODIFIER ATP1A4 HGNC 14073 ENST00000477338 1/21 1 NA CCA C,T 8.236e-06 1:160153128 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 intron_variant 0.578903 0.23929 0.03421 0.06567 0.7467075 0.0511358 1.897333e-11 FALSE 4.06981e-06 ENSE00002306305_004 ENSE00002306305 004 1 160122895 160123064 + 60 60 50 T C 160122931 3874 37 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGGGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153140 160153141 160153141 upstr_intron -24 -0.3833333 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCCCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant 43 43 0 0.01520401 0.007602004 NA NA NA NA NA NA NA 0.8611831 0.8225712 NA NA NA NA NA 0.8418772 NA NA NA NA NA 0 0.742 . intron_variant&NMD_transcript_variant MODIFIER ATP1A4 HGNC 14073 ENST00000477338 1/21 rs202167498 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0.0002 C:0.0014 CTC T,C 0.000626 1:160153141 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 intron_variant 0.442327 0.25156 0.10596 0.06567 0.7539465 0.0511358 1.897333e-11 FALSE 0.000605657 ENSE00002306305_005 ENSE00002306305 005 1 160122895 160123064 + 60 60 50 C T 160122938 3875 44 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAAGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153147 160153148 160153148 upstr_intron -17 -0.2666667 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCTTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant 26 20 0.85 0.85 0.85 351 662 0.9493672 0.9471048 0.948236 NA NA 0.8611831 0.8225712 NA NA 0.08818406 0.1245336 NA 0.8418772 NA 0.1063588 NA FALSE NA 0 0.251 . intron_variant&NMD_transcript_variant MODIFIER ATP1A4 HGNC 14073 ENST00000477338 1/21 1 NA CCT C,T 8.236e-06 1:160153148 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 intron_variant 0.503384 0.36285 0.0216 0.06567 0.6201125 0.0511358 1.897333e-11 FALSE 4.06379e-06 ENSE00002306305_008 ENSE00002306305 008 1 160122895 160123064 + 60 60 50 G A 160122945 3878 51 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGATAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153154 160153155 160153155 upstr_intron -10 -0.15 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTATCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant 360 63 0 0 0 129 460 0.8062276 0.8 0.8031138 NA NA 0.8611831 0.8225712 NA NA -0.05495549 -0.02257119 NA 0.8418772 NA -0.03876334 NA FALSE NA 0.001 -0.551 NA NA NA ATP1A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160153155 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 intron_variant 0.983191 0.23046 0.04337 0.06567 0.652329 0.0511358 1.897333e-11 FALSE 8.12704e-06 ENSE00002306305_010 ENSE00002306305 010 1 160122895 160123064 + 60 60 50 G A 160122954 3880 60 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCTTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153163 160153164 160153164 upstr_intron -1 0 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAAGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant 167 114 0 0 0 NA NA NA NA NA NA NA 0.8611831 0.8225712 NA NA NA NA NA 0.8418772 NA NA NA NA NA 1 8.396 . splice_acceptor_variant&NMD_transcript_variant HIGH ATP1A4 HGNC 14073 ENST00000477338 1/21 1 NA AGG G,A 8.236e-06 1:160153164 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 splice_acceptor_variant 5.267303 0.99393 0.99158 0.06567 0.9952743 0.962408 1.897333e-11 FALSE 4.06379e-06 ENSE00002306305_011 ENSE00002306305 011 1 160122895 160123064 + 60 60 50 C G 160122971 3881 77 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGCTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153180 160153181 160153181 exon 17 0.2833333 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAAGCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant 141 21 0 0 0 NA NA NA NA NA NA NA 0.8611831 0.8225712 NA NA NA NA NA 0.8418772 NA NA NA NA NA 0.003 2.486 rs150340260 missense_variant&NMD_transcript_variant MODERATE ATP1A4 HGNC 14073 ENST00000477338 2/22 rs150340260 1 tolerated(1) benign(0.066) NA G:0.0002 G:0 ACC C,G 8.236e-06 1:160153181 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 missense_variant 0.922764 0.96346 0.24446 0.487112 0.5079687 0 1.897333e-11 FALSE 4.06431e-06 ENSE00002306305_012 ENSE00002306305 012 1 160122895 160123064 + 60 60 50 T A 160122983 3882 89 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCTGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153192 160153193 160153193 exon 29 0.4833333 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCAGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 530 41 0.8298585 0.8843652 0.8571118 NA NA 0.8611831 0.8225712 NA NA -0.03132463 0.06179397 NA 0.8418772 NA 0.01523467 NA FALSE NA 0.993 5.179 . missense_variant&NMD_transcript_variant MODERATE ATP1A4 HGNC 14073 ENST00000477338 2/22 1 deleterious(0) probably_damaging(1) NA CTG T,A 8.236e-06 1:160153193 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 missense_variant 5.81338 0.99179 0.94481 0.603402 0.9955403 0 1.897333e-11 FALSE 4.06471e-06 ENSE00002306305_014 ENSE00002306305 014 1 160122895 160123064 + 60 60 50 C G 160122989 3884 95 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGCTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153198 160153199 160153199 exon -26 0.5833333 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCAGCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 22 437 0.9111864 0.9016146 0.9064005 NA NA 0.8611831 0.8225712 NA NA 0.05000329 0.07904339 NA 0.8418772 NA 0.06452334 NA FALSE NA 0 0.567 . missense_variant&NMD_transcript_variant MODERATE ATP1A4 HGNC 14073 ENST00000477338 2/22 1 tolerated(0.38) benign(0.082) NA ACC C,G 8.236e-06 1:160153199 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 missense_variant -0.19245 0.26951 0.02069 0.603402 0.9381721 0 1.897333e-11 FALSE 8.12962e-06 ENSE00002306305_015 ENSE00002306305 015 1 160122895 160123064 + 60 60 50 A G 160122992 3885 98 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGAGTACCTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153201 160153202 160153202 exon -23 0.6333333 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAGGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 134 266 0.7842645 0.8 0.7921323 NA NA 0.8611831 0.8225712 NA NA -0.0769186 -0.02257119 NA 0.8418772 NA -0.0497449 NA FALSE NA 1 4.94 . missense_variant&NMD_transcript_variant MODERATE ATP1A4 HGNC 14073 ENST00000477338 2/22 1 tolerated(0.85) benign(0.021) NA AAG A,G 0.0002636 1:160153202 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 missense_variant 0.285554 0.98642 0.96253 0.603402 0.9794465 0 1.897333e-11 FALSE 0.000256066 ENSE00002306305_016 ENSE00002306305 016 1 160122895 160123064 + 60 60 50 T G 160122997 3886 103 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACGGCGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153206 160153207 160153207 exon -18 0.7166667 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACGCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 235 436 0.919864 0.9437199 0.931792 NA NA 0.8611831 0.8225712 NA NA 0.05868093 0.1211488 NA 0.8418772 NA 0.08991484 NA FALSE NA 0 1.261 . missense_variant&NMD_transcript_variant MODERATE ATP1A4 HGNC 14073 ENST00000477338 2/22 1 tolerated(0.05) benign(0.013) NA CTC T,G 8.236e-06 1:160153207 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 missense_variant 0.450114 0.6259 0.06045 0.603402 0.9614209 0 1.897333e-11 FALSE 4.0656e-06 ENSE00002306305_017 ENSE00002306305 017 1 160122895 160123064 + 60 60 50 C T 160122999 3887 105 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCACAGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153208 160153209 160153209 exon -16 0.75 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCTGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant 29 18 0 0 0 NA NA NA NA NA NA NA 0.8611831 0.8225712 NA NA NA NA NA 0.8418772 NA NA NA NA NA 0 -6.56 . synonymous_variant&NMD_transcript_variant LOW ATP1A4 HGNC 14073 ENST00000477338 2/22 rs528512500 1 NA CCG C,T 1.647e-05 1:160153209 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 synonymous_variant 1.447409 0.23951 0.00963 0.603402 0.5395081 0 1.897333e-11 FALSE 2.03288e-05 ENSE00002306305_018 ENSE00002306305 018 1 160122895 160123064 + 60 60 50 G A 160123000 3888 106 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCATGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153209 160153210 160153210 exon -15 0.7666667 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCATGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 221 109 0.8 0.7818838 0.7909419 NA NA 0.8611831 0.8225712 NA NA -0.06118312 -0.04068741 NA 0.8418772 NA -0.05093527 NA FALSE NA 1 4.973 rs7549352 missense_variant&NMD_transcript_variant MODERATE ATP1A4 HGNC 14073 ENST00000477338 2/22 rs7549352 1 deleterious(0.01) possibly_damaging(0.89) NA A:0.0002 A:0.0013 CGT G,A 0.0009554 1:160153210 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 missense_variant 5.415147 0.97535 0.59204 0.603402 0.9977823 0 1.897333e-11 FALSE 0.000870117 ENSE00002306305_019 ENSE00002306305 019 1 160122895 160123064 + 60 60 50 T C 160123001 3889 107 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGTCAGGTCCGCGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153210 160153211 160153211 exon -14 0.7833333 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGCGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 892 195 0.9433989 0.8979878 0.9206934 NA NA 0.8611831 0.8225712 NA NA 0.08221582 0.07541661 NA 0.8418772 NA 0.07881622 NA FALSE NA 0.999 3.034 . missense_variant&NMD_transcript_variant MODERATE ATP1A4 HGNC 14073 ENST00000477338 2/22 1 deleterious(0.01) possibly_damaging(0.51) NA GTG T,C 1.647e-05 1:160153211 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 missense_variant 2.863422 0.97754 0.61969 0.603402 0.9955642 0 1.897333e-11 FALSE 8.1318e-06 ENSE00002306305_021 ENSE00002306305 021 1 160122895 160123064 + 60 60 50 A G 160123009 3891 115 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCACCTTTGCCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153218 160153219 160153219 exon -6 0.9166667 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGGCAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 540 402 0.8157434 0.8039548 0.8098491 NA NA 0.8611831 0.8225712 NA NA -0.04543972 -0.01861643 NA 0.8418772 NA -0.03202808 NA FALSE NA 0 0.396 . missense_variant&NMD_transcript_variant MODERATE ATP1A4 HGNC 14073 ENST00000477338 2/22 1 tolerated(0.37) benign(0.003) NA GAC A,G 8.236e-06 1:160153219 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 missense_variant -0.524809 0.25674 0.08603 0.603402 0.8946143 0 1.897333e-11 FALSE 4.06646e-06 ENSE00002306305_022 ENSE00002306305 022 1 160122895 160123064 + 60 60 50 G T 160123026 3892 132 CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGATTCTTACTCACCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCCTGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 160153235 160153236 160153236 downstr_intron 12 1.244898 CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAATCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG mutant NA NA NA NA NA 55 372 0.964661 0.9721544 0.9684077 NA NA 0.8611831 0.8225712 NA NA 0.1034779 0.1495832 NA 0.8418772 NA 0.1265305 NA FALSE NA 0 -1.596 . intron_variant&NMD_transcript_variant MODIFIER ATP1A4 HGNC 14073 ENST00000477338 2/21 1 NA AGC G,T 4.118e-05 1:160153236 ATP1A4 HGNC Symbol protein_coding 35407 ENSG00000132681 ENSE00002306305 intron_variant -0.192486 0.11188 0.00704 0 0.6155419 0.0510589 1.897333e-11 FALSE 2.4419e-05 ENSE00002306305_BRK ENSE00002306305 BRK 1 160122895 160123064 + 60 60 50 A,G; T,T NA NA NA CACAGTCAGAGTTGGAGACTCTCTGCCTCCTCAGGGAGCTTCTTACTCGGCTTTGTCAGGTCCACGGAGTACTTGGTGCTCAGCTCTTCCAAGGTTAATTTGTGATCATCAAGAGGGGACAGTAGAGGCATTGAGGGACAGGGGGTGGCCCAGGTCATTTCCAGGGAGAG 160153104 160153274 NA NA NA NA NA NA CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCTTGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGCCGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG CTCTCCCTGGAAATGACCTGGGCCACCCCCTGTCCCTCAATGCCTCTACTGTCCCCTCAGGATGATCACAAATTAACCTTGGAAGAGCTGAGCACCAAGTACTCCGTGGACCTGACAAAGGTGAGTAAGAAGCTCCCTGAGGAGGCAGAGAGTCTCCAACTCTGACTGTG control 17 92 0 0 0 NA NA NA NA NA NA NA 0.8611831 0.8225712 NA NA NA NA NA 0.8418772 NA NA NA NA NA NA NA NA NA NA ATP1A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP1A4 NA NA NA ENSG00000132681 ENSE00002306305 NA NA NA NA NA NA NA 1.897333e-11 FALSE NA ENSE00002306398_000 ENSE00002306398 000 22 47507362 47507531 + 42 96 32 NA NA NA NA NA CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 NA NA NA NA NA NA CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT natural 55 39 0.9973846 0.997624 0.9975043 2418 2110 0.9330623 0.9290265 0.9310444 0.9973846 0.997624 0.9330623 0.9290265 0 0 0 0 0.9975043 0.9310444 0 0 0 FALSE FALSE NA NA NA NA NA TBC1D22A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBC1D22A NA NA NA ENSG00000054611 ENSE00003480642 NA NA NA NA NA NA NA 0.957288 TRUE NA ENSE00002306398_002 ENSE00002306398 002 22 47507362 47507531 + 42 96 32 G A 47507385 1438 24 CACGCGTTACAATTTCTCTCTTGATTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 47111488 47111489 47111489 upstr_intron -19 -0.4285714 CACGCGTTACAATTTCTCTCTTGATTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT mutant NA NA NA NA NA 139 328 0.9982099 0.9990663 0.9986381 0.9973846 0.997624 0.9330623 0.9290265 NA NA 0.06514759 0.07003988 0.9975043 0.9310444 NA 0.06759373 NA FALSE NA 0.359 0.64 . intron_variant MODIFIER TBC1D22A HGNC 1309 ENST00000406733 11/12 rs556878210 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGT G,A 8.236e-06 22:47111489 TBC1D22A HGNC Symbol protein_coding 413082 ENSG00000054611 ENSE00003480642 intron_variant 0.306745 0.2552 0.02611 0.322412 0.8936547 0.0924145 0.957288 TRUE 8.25825e-06 ENSE00002306398_006 ENSE00002306398 006 22 47507362 47507531 + 42 96 32 T C 47507422 1442 61 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTCCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 47111525 47111526 47111526 exon 19 0.1979167 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTCCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT mutant NA NA NA NA NA 225 786 1 0.9993681 0.999684 0.9973846 0.997624 0.9330623 0.9290265 NA NA 0.06693766 0.07034159 0.9975043 0.9310444 NA 0.06863963 NA FALSE NA 1 5.191 . missense_variant MODERATE TBC1D22A HGNC 1309 ENST00000406733 12/13 1 deleterious(0.01) possibly_damaging(0.593) NA TTC T,C 8.236e-06 22:47111526 TBC1D22A HGNC Symbol protein_coding 413082 ENSG00000054611 ENSE00003480642 missense_variant 5.958 0.94027 0.68032 0.732398 0.9983506 0 0.957288 TRUE 4.06379e-06 ENSE00002306398_007 ENSE00002306398 007 22 47507362 47507531 + 42 96 32 T G 47507429 1443 68 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTGCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 47111532 47111533 47111533 exon 26 0.2708333 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTGCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT mutant NA NA NA NA NA 1582 73 0.9946767 0.9978273 0.996252 0.9973846 0.997624 0.9330623 0.9290265 NA NA 0.06161439 0.06880084 0.9975043 0.9310444 NA 0.06520761 NA FALSE NA 1 6.819 . missense_variant MODERATE TBC1D22A HGNC 1309 ENST00000406733 12/13 rs374905207 1 deleterious(0) probably_damaging(1) NA G:0.0002 G:0 TTC T,G 8.236e-06 22:47111533 TBC1D22A HGNC Symbol protein_coding 413082 ENSG00000054611 ENSE00003480642 missense_variant 6.601425 0.95744 0.8052 0.732398 0.9954744 0 0.957288 TRUE 4.06392e-06 ENSE00002306398_008 ENSE00002306398 008 22 47507362 47507531 + 42 96 32 C T 47507433 1444 72 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCATTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 47111536 47111537 47111537 exon 30 0.3125 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCATTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT mutant NA NA NA NA NA 177 14 0.9959791 1 0.9979895 0.9973846 0.997624 0.9330623 0.9290265 NA NA 0.06291676 0.07097353 0.9975043 0.9310444 NA 0.06694514 NA FALSE NA 1 3.099 . synonymous_variant LOW TBC1D22A HGNC 1309 ENST00000406733 12/13 1 NA ACT C,T 8.236e-06 22:47111537 TBC1D22A HGNC Symbol protein_coding 413082 ENSG00000054611 ENSE00003480642 synonymous_variant 1.484481 0.93221 0.53375 0.732398 0.9134003 0 0.957288 TRUE 4.06263e-06 ENSE00002306398_009 ENSE00002306398 009 22 47507362 47507531 + 42 96 32 T C 47507434 1445 73 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACCTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 47111537 47111538 47111538 exon 31 0.3229167 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACCTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT mutant NA NA NA NA NA 2963 768 0.9952859 1 0.997643 0.9973846 0.997624 0.9330623 0.9290265 NA NA 0.06222358 0.07097353 0.9975043 0.9310444 NA 0.06659855 NA FALSE NA 1 0.256 rs142816047 synonymous_variant LOW TBC1D22A HGNC 1309 ENST00000406733 12/13 rs142816047 1 NA C:0.0016 C:0 CTT T,C 9.06e-05 22:47111538 TBC1D22A HGNC Symbol protein_coding 413082 ENSG00000054611 ENSE00003480642 synonymous_variant 0.37197 0.91165 0.31294 0.732398 0.7773017 0 0.957288 TRUE 9.34405e-05 ENSE00002306398_014 ENSE00002306398 014 22 47507362 47507531 + 42 96 32 C T 47507457 1450 96 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTTGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 47111560 47111561 47111561 exon -43 0.5625 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTTGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT mutant NA NA NA NA NA 162 250 1 1 1 0.9973846 0.997624 0.9330623 0.9290265 NA NA 0.06693766 0.07097353 0.9975043 0.9310444 NA 0.06895559 NA FALSE NA 1 0.544 . synonymous_variant LOW TBC1D22A HGNC 1309 ENST00000406733 12/13 1 NA TCG C,T 2.471e-05 22:47111561 TBC1D22A HGNC Symbol protein_coding 413082 ENSG00000054611 ENSE00003480642 synonymous_variant 2.313658 0.88865 0.29186 0.732398 0.9048308 0 0.957288 TRUE 3.24915e-05 ENSE00002306398_017 ENSE00002306398 017 22 47507362 47507531 + 42 96 32 A G 47507487 1453 126 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAGAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 47111590 47111591 47111591 exon -13 0.875 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAGAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT mutant NA NA NA NA NA 252 87 1 0.9660363 0.9830181 0.9973846 0.997624 0.9330623 0.9290265 NA NA 0.06693766 0.03700978 0.9975043 0.9310444 NA 0.05197372 NA FALSE NA 1 1.647 . synonymous_variant LOW TBC1D22A HGNC 1309 ENST00000406733 12/13 1 NA AAA A,G 8.236e-06 22:47111591 TBC1D22A HGNC Symbol protein_coding 413082 ENSG00000054611 ENSE00003480642 synonymous_variant 0.256947 0.89944 0.27957 0.732398 0.6376392 0 0.957288 TRUE 4.06798e-06 ENSE00002306398_019 ENSE00002306398 019 22 47507362 47507531 + 42 96 32 A G 47507506 1455 145 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTGAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 47111609 47111610 47111610 downstr_intron 7 1.225806 CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTGAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT mutant NA NA NA NA NA 263 157 0.9947138 1 0.9973569 0.9973846 0.997624 0.9330623 0.9290265 NA NA 0.0616515 0.07097353 0.9975043 0.9310444 NA 0.06631251 NA FALSE NA 0.992 2.373 . splice_region_variant&intron_variant LOW TBC1D22A HGNC 1309 ENST00000406733 12/12 1 NA TAA A,G 2.471e-05 22:47111610 TBC1D22A HGNC Symbol protein_coding 413082 ENSG00000054611 ENSE00003480642 splice_region_variant 0.901211 0.74234 0.3608 0.106106 0.7472636 0.51322 0.957288 TRUE 1.22809e-05 ENSE00002306398_BRK ENSE00002306398 BRK 22 47507362 47507531 + 42 96 32 A,G; T,T NA NA NA CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTTTTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAACCAAGTAAATGTCTTTTCAAAAGAACCCAAGT 47111465 47111635 NA NA NA NA NA NA CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTTTTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAACCAAGTAAATGTCTTTTCAAAAGAACCCAAGT CACGCGTTACAATTTCTCTCTTGGTTATTTTTTCTCTTTTAGTCTGAACCGGACGGCTTTTCTCATTTCCACTTGTACGTGTGCGCTGCTTTTCTCGTGAGATGGAGGAAGGAAATACTAGAAGAAAAAGATTTTCAAGTAAGTAAATGTCTTTTCAAAAGAACCCAAGT control 43 30 0 0 0 19 125 0 0 0 0.9973846 0.997624 0.9330623 0.9290265 -0.9973846 -0.997624 -0.9330623 -0.9290265 0.9975043 0.9310444 -0.9975043 -0.9310444 0.0664599 TRUE TRUE NA NA NA NA NA TBC1D22A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBC1D22A NA NA NA ENSG00000054611 ENSE00003480642 NA NA NA NA NA NA NA 0.957288 TRUE NA ENSE00002306797_000 ENSE00002306797 000 19 50314843 50315012 - 45 69 56 NA NA NA NA NA TGCCCAGGTATCCTAACTTCCCACCCTCATGTCCTGCAACCTCACCCTCAAGTCCTTCTTCAGTCTCTCCACGTTGCGGATATTGGTCAGTTCTTCAAGTCCCACAAGAAGGACCTAGAAGAATCATATAGGAGAGGATGGGCGAGGGGCTGGGACTTGAACTCCTGGGT 49811585 49811755 NA NA NA NA NA NA ACCCAGGAGTTCAAGTCCCAGCCCCTCGCCCATCCTCTCCTATATGATTCTTCTAGGTCCTTCTTGTGGGACTTGAAGAACTGACCAATATCCGCAACGTGGAGAGACTGAAGAAGGACTTGAGGGTGAGGTTGCAGGACATGAGGGTGGGAAGTTAGGATACCTGGGCA ACCCAGGAGTTCAAGTCCCAGCCCCTCGCCCATCCTCTCCTATATGATTCTTCTAGGTCCTTCTTGTGGGACTTGAAGAACTGACCAATATCCGCAACGTGGAGAGACTGAAGAAGGACTTGAGGGTGAGGTTGCAGGACATGAGGGTGGGAAGTTAGGATACCTGGGCA natural 781 674 0.01008381 0.01357187 0.01182784 1588 1176 0.6643903 0.7278683 0.6961293 0.01008381 0.01357187 0.6643903 0.7278683 0 0 0 0 0.01182784 0.6961293 0 0 0 FALSE FALSE NA NA NA NA NA FUZ NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FUZ NA NA NA ENSG00000010361 ENSE00003661417 NA NA NA NA NA NA NA 0.002088164 FALSE NA ENSE00002306797_014 ENSE00002306797 014 19 50314843 50315012 - 45 69 56 G C 50314960 3040 53 TGCCCAGGTATCCTAACTTCCCACCCTCATGTCCTGCAACCTCACCCTCAAGTCCTTCTTCAGTCTCTCCACGTTGCGGATATTGGTCAGTTCTTCAAGTCCCACAAGAAGGACCTACAAGAATCATATAGGAGAGGATGGGCGAGGGGCTGGGACTTGAACTCCTGGGT 49811585 49811755 49811702 49811703 49811703 upstr_intron -4 -0.05357143 ACCCAGGAGTTCAAGTCCCAGCCCCTCGCCCATCCTCTCCTATATGATTCTTGTAGGTCCTTCTTGTGGGACTTGAAGAACTGACCAATATCCGCAACGTGGAGAGACTGAAGAAGGACTTGAGGGTGAGGTTGCAGGACATGAGGGTGGGAAGTTAGGATACCTGGGCA ACCCAGGAGTTCAAGTCCCAGCCCCTCGCCCATCCTCTCCTATATGATTCTTCTAGGTCCTTCTTGTGGGACTTGAAGAACTGACCAATATCCGCAACGTGGAGAGACTGAAGAAGGACTTGAGGGTGAGGTTGCAGGACATGAGGGTGGGAAGTTAGGATACCTGGGCA mutant NA NA NA NA NA 1391 36 0.6982841 0.8069743 0.7526292 0.01008381 0.01357187 0.6643903 0.7278683 NA NA 0.03389376 0.07910602 0.01182784 0.6961293 NA 0.05649989 NA FALSE NA 0.852 1.277 . splice_region_variant&intron_variant&NMD_transcript_variant LOW FUZ HGNC 26219 ENST00000377092 3/10 rs570362032 1 C:0.0026 C:0 C:0 NA C:0 C:0 C:0.0133 AGA G,C 0.0004859 19:49811703 FUZ HGNC Symbol protein_coding 10507 ENSG00000010361 ENSE00003661417 splice_region_variant -0.003217 0.94243 0.80847 0.078448 0.5525157 0.269088 0.002088164 FALSE 0.000434479 ENSE00002307460_000 ENSE00002307460 000 16 71416560 71416729 + 62 57 51 NA NA NA NA NA CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 NA NA NA NA NA NA GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG natural 49 39 0.999283 0.9974205 0.9983517 238 579 1 1 1 0.999283 0.9974205 1 1 0 0 0 0 0.9983517 1 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002452620 NA NA NA NA NA NA NA 0.001238901 FALSE NA ENSE00002307460_004 ENSE00002307460 004 16 71416560 71416729 + 62 57 51 C T 71416585 2635 26 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACATATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382681 71382682 71382682 upstr_intron -37 -0.5806452 GAAGGGAGGTGGGTAGATTTTGATATGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant NA NA NA NA NA 21 42 1 0.9903925 0.9951962 0.999283 0.9974205 1 1 NA NA 0 -0.009607516 0.9983517 1 NA -0.004803758 NA FALSE NA 0 -2.667 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71382682 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 intron_variant -0.110394 0.14664 0.00406 0.053691 0.5075715 0.0518458 0.001238901 FALSE 0.000269908 ENSE00002307460_005 ENSE00002307460 005 16 71416560 71416729 + 62 57 51 C A 71416585 2636 26 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACTTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382681 71382682 71382682 upstr_intron -37 -0.5806452 GAAGGGAGGTGGGTAGATTTTGATAAGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant NA NA NA NA NA 342 127 1 1 1 0.999283 0.9974205 1 1 NA NA 0 0 0.9983517 1 NA 0 NA FALSE NA 0 -2.667 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002452620 intron_variant -0.083733 0.19511 0.01255 0.053691 0.4812389 0.0518458 0.001238901 FALSE 3.37385e-05 ENSE00002307460_007 ENSE00002307460 007 16 71416560 71416729 + 62 57 51 T C 71416590 2638 31 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAGAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382686 71382687 71382687 upstr_intron -32 -0.5 GAAGGGAGGTGGGTAGATTTTGATACGTCTCTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant 22 16 0.9870803 1 0.9935402 NA NA NA NA NA 0.999283 0.9974205 1 1 -0.01220266 0.002579504 NA NA 0.9983517 1 -0.004811579 NA NA NA FALSE 0 -0.708 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 4/9 rs370740060 1 NA C:0 C:0.0001 TTT T,C 8.237e-06 16:71382687 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 intron_variant -0.113101 0.18756 0.02279 0.053691 0.4527406 0.0735584 0.001238901 FALSE 8.35275e-06 ENSE00002307460_008 ENSE00002307460 008 16 71416560 71416729 + 62 57 51 G C 71416597 2639 38 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTGTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382693 71382694 71382694 upstr_intron -25 -0.3870968 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAACAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant 11 27 1 1 1 NA NA NA NA NA 0.999283 0.9974205 1 1 0.0007170369 0.002579504 NA NA 0.9983517 1 0.00164827 NA NA NA FALSE 0 -2.311 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 4/9 1 NA AGA G,C 1.647e-05 16:71382694 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 intron_variant -0.551675 0.09133 0.00235 0.053691 0.4907041 0.124674 0.001238901 FALSE NA ENSE00002307460_012 ENSE00002307460 012 16 71416560 71416729 + 62 57 51 C A 71416619 2643 60 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTTCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382715 71382716 71382716 upstr_intron -3 -0.03225806 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGAAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant 216 164 0 0 0 NA NA NA NA NA 0.999283 0.9974205 1 1 -0.999283 -0.9974205 NA NA 0.9983517 1 -0.9983517 NA NA NA TRUE 0.977 1.786 . splice_region_variant&intron_variant LOW CALB2 HGNC 1435 ENST00000562305 4/9 1 NA GCA C,A 8.237e-06 16:71382716 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 splice_region_variant 2.322274 0.98823 0.90344 0.078448 0.9571346 0.87988 0.001238901 FALSE NA ENSE00002307460_017 ENSE00002307460 017 16 71416560 71416729 + 62 57 51 C T 71416636 2648 77 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCATACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382732 71382733 71382733 exon 15 0.2631579 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTATGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant NA NA NA NA NA 503 998 0.9999182 0.9991128 0.9995155 0.999283 0.9974205 1 1 NA NA -8.18444e-05 -0.0008872146 0.9983517 1 NA -0.0004845295 NA FALSE NA 0.158 -0.423 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 5/10 1 NA ACG C,T 8.236e-06 16:71382733 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 synonymous_variant 1.289164 0.63518 0.02776 0.615465 0.551787 0 0.001238901 FALSE 8.21875e-06 ENSE00002307460_020 ENSE00002307460 020 16 71416560 71416729 + 62 57 51 G A 71416650 2651 91 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCATTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382746 71382747 71382747 exon -29 0.5087719 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAATGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant NA NA NA NA NA 235 92 1 1 1 0.999283 0.9974205 1 1 NA NA 0 0 0.9983517 1 NA 0 NA FALSE NA 1 9.214 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 5/10 1 deleterious(0.02) possibly_damaging(0.77) NA AGT G,A 8.236e-06 16:71382747 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 missense_variant 4.530403 0.99478 0.98549 0.615465 0.9978996 0 0.001238901 FALSE NA ENSE00002307460_025 ENSE00002307460 025 16 71416560 71416729 + 62 57 51 G A 71416672 2656 113 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGTTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382768 71382769 71382769 exon -7 0.8947368 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAACTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant NA NA NA NA NA 84 29 1 1 1 0.999283 0.9974205 1 1 NA NA 0 0 0.9983517 1 NA 0 NA FALSE NA 1 2.261 rs150422245 synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 5/10 rs150422245 1 NA A:0.0005 A:0 AGC G,A 1.647e-05 16:71382769 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 synonymous_variant 0.996274 0.98413 0.84323 0.615465 0.6582673 0 0.001238901 FALSE 1.64663e-05 ENSE00002307460_026 ENSE00002307460 026 16 71416560 71416729 + 62 57 51 T C 71416680 2657 121 CTTAAGCCCACCGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTGCCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382776 71382777 71382777 downstr_intron 2 1.04 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGCAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant 15 22 0 0 0 NA NA NA NA NA 0.999283 0.9974205 1 1 -0.999283 -0.9974205 NA NA 0.9983517 1 -0.9983517 NA NA NA TRUE 1 7.535 . splice_donor_variant HIGH CALB2 HGNC 1435 ENST00000562305 5/9 rs542260348 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 HC GTA T,C 1.647e-05 16:71382777 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 splice_donor_variant 5.394395 0.99277 0.97439 0.053691 0.9957074 0.979388 0.001238901 FALSE 8.27671e-06 ENSE00002307460_028 ENSE00002307460 028 16 71416560 71416729 + 62 57 51 G A 71416702 2659 143 CTTAAGCCCACCGCCACTCTGGCCTCATACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382798 71382799 71382799 downstr_intron 24 1.48 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTATGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant NA NA NA NA NA 161 409 1 1 1 0.999283 0.9974205 1 1 NA NA 0 0 0.9983517 1 NA 0 NA FALSE NA 0 -1.175 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 1 NA TGT G,A 8.237e-06 16:71382799 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 intron_variant 0.797133 0.14382 0.00384 0.053691 0.8784565 0.0436289 0.001238901 FALSE NA ENSE00002307460_029 ENSE00002307460 029 16 71416560 71416729 + 62 57 51 G A 71416704 2660 145 CTTAAGCCCACCGCCACTCTGGCCTTACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382800 71382801 71382801 downstr_intron 26 1.52 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTAAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant 22 15 0.9665628 1 0.9832814 461 30 1 1 1 0.999283 0.9974205 1 1 -0.03272014 0.002579504 0 0 0.9983517 1 -0.01507032 0 0.01507032 FALSE FALSE 0.008 0.218 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 1 NA TGA G,A 8.237e-06 16:71382801 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 intron_variant 0.68419 0.1779 0.02282 0.053691 0.8307822 0.0436289 0.001238901 FALSE 4.37415e-06 ENSE00002307460_033 ENSE00002307460 033 16 71416560 71416729 + 62 57 51 G A 71416718 2664 159 CTTAAGCCCACTGCCACTCTGGCCTCACACCCTCCCCAAGGCCCATCCTACCTTGAGCTCATTGGCTTCGATGTAGCCACTCCTGTCTGTGTCGTACTTCCGCCAAGCCTGCAACAACAGGAATGTCAACCTCTTTGCAAAGACGTATCAAAATCTACCCACCTCCCTTC 71382656 71382826 71382814 71382815 71382815 downstr_intron 40 1.8 GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCAGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG mutant NA NA NA NA NA 54 234 1 0.9956445 0.9978222 0.999283 0.9974205 1 1 NA NA 0 -0.004355547 0.9983517 1 NA -0.002177773 NA FALSE NA 0 -0.461 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 5/9 1 NA CGG G,A 4.119e-05 16:71382815 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002452620 intron_variant 0.075095 0.14226 0.01639 0.053691 0.7029107 0.0443366 0.001238901 FALSE 2.34693e-05 ENSE00002307460_BRK ENSE00002307460 BRK 16 71416560 71416729 + 62 57 51 A,G; T,T NA NA NA GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCTTGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGCCAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG 71382656 71382826 NA NA NA NA NA NA GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCTTGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGCCAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG GAAGGGAGGTGGGTAGATTTTGATACGTCTTTGCAAAGAGGTTGACATTCCTGTTGTTGCAGGCTTGGCGGAAGTACGACACAGACAGGAGTGGCTACATCGAAGCCAATGAGCTCAAGGTAGGATGGGCCTTGGGGAGGGTGTGAGGCCAGAGTGGCGGTGGGCTTAAG control 38 125 0 0.0156933 0.007846648 NA NA NA NA NA 0.999283 0.9974205 1 1 -0.999283 -0.9817272 NA NA 0.9983517 1 -0.9905051 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00002452620 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00002308296_000 ENSE00002308296 000 4 185694934 185695103 - 63 33 74 NA NA NA NA NA GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 NA NA NA NA NA NA GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC natural 17 51 0.9740884 0.9537219 0.9639052 2301 953 0.9699502 0.9627013 0.9663257 0.9740884 0.9537219 0.9699502 0.9627013 0 0 0 0 0.9639052 0.9663257 0 0 0 FALSE FALSE NA NA NA NA NA ACSL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSL1 NA NA NA ENSG00000151726 ENSE00003658512 NA NA NA NA NA NA NA 0.09183733 FALSE NA ENSE00002308296_001 ENSE00002308296 001 4 185694934 185695103 - 63 33 74 T C 185694949 1706 155 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAGTATCTAGCCTGGTAC 184773779 184773949 184773794 184773795 184773795 downstr_intron 48 1.774194 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAGTATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 294 92 0.9881416 1 0.9940708 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.01819141 0.03729871 0.9639052 0.9663257 NA 0.02774506 NA FALSE NA 0 -4.179 . intron_variant MODIFIER ACSL1 HGNC 3569 ENST00000504900 8/11 1 NA ATT T,C 1.647e-05 4:184773795 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant -0.946808 0.03964 0.00909 0.295142 0.1831901 0.046875 0.09183733 FALSE 1.22016e-05 ENSE00002308296_002 ENSE00002308296 002 4 185694934 185695103 - 63 33 74 G A 185694951 1707 153 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTTAATATCTAGCCTGGTAC 184773779 184773949 184773796 184773797 184773797 downstr_intron 46 1.741935 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTTAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 588 137 0.8831555 0.9867618 0.9349586 0.9740884 0.9537219 0.9699502 0.9627013 NA NA -0.08679474 0.02406055 0.9639052 0.9663257 NA -0.03136709 NA FALSE NA 0 -0.626 . intron_variant MODIFIER ACSL1 HGNC 3569 ENST00000504900 8/11 1 NA TGA G,A 8.236e-06 4:184773797 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant 0.229547 0.22039 0.10851 0.295142 0.5507644 0.0847469 0.09183733 FALSE 4.06732e-06 ENSE00002308296_003 ENSE00002308296 003 4 185694934 185695103 - 63 33 74 A C 185694960 1708 144 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTGGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773805 184773806 184773806 downstr_intron 37 1.596774 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTGGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 263 152 1 0.8737724 0.9368862 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.03004981 -0.08892891 0.9639052 0.9663257 NA -0.02943955 NA FALSE NA 0 -0.094 . intron_variant MODIFIER ACSL1 HGNC 3569 ENST00000504900 8/11 rs371760763 1 NA G:0 G:0.0001 CAA A,C 8.237e-06 4:184773806 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant -0.202163 0.17975 0.03348 0.295142 0.6704539 0.0793667 0.09183733 FALSE NA ENSE00002308296_004 ENSE00002308296 004 4 185694934 185695103 - 63 33 74 A G 185694971 1709 133 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCCCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773816 184773817 184773817 downstr_intron 26 1.419355 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCCCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 272 50 1 1 1 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.03004981 0.03729871 0.9639052 0.9663257 NA 0.03367426 NA FALSE NA 0 -1.32 . intron_variant MODIFIER ACSL1 HGNC 3569 ENST00000504900 8/11 rs201322116 1 G:0.0032 G:0.0038 G:0.0115 NA G:0 G:0.003 G:0 G:0.0016 G:0.0019 GAG A,G 0.002265 4:184773817 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant 0.302866 0.17087 0.01103 0.295142 0.5301618 0.046323 0.09183733 FALSE 0.0028295 ENSE00002308296_006 ENSE00002308296 006 4 185694934 185695103 - 63 33 74 C T 185694985 1711 119 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCATGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773830 184773831 184773831 downstr_intron 12 1.193548 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCATGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 330 102 0.9995001 0.9807848 0.9901424 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.02954991 0.0180835 0.9639052 0.9663257 NA 0.02381671 NA FALSE NA 0 -3.455 . intron_variant MODIFIER ACSL1 HGNC 3569 ENST00000504900 8/11 rs368315348 1 NA T:0.0002 T:0 ACG C,T 1.647e-05 4:184773831 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant 1.419746 0.18158 0.02928 0.295142 0.7405757 0.266199 0.09183733 FALSE 2.033e-05 ENSE00002308296_007 ENSE00002308296 007 4 185694934 185695103 - 63 33 74 T C 185694988 1712 116 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACGCCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773833 184773834 184773834 downstr_intron 9 1.145161 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACGCCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 128 426 0.9730977 0.9654268 0.9692623 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.003147541 0.002725508 0.9639052 0.9663257 NA 0.002936524 NA FALSE NA 0 -1.635 . intron_variant MODIFIER ACSL1 HGNC 3569 ENST00000504900 8/11 1 NA GTG T,C 8.236e-06 4:184773834 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant 1.513419 0.20737 0.0186 0.295142 0.691603 0.197633 0.09183733 FALSE 8.1318e-06 ENSE00002308296_008 ENSE00002308296 008 4 185694934 185695103 - 63 33 74 T G 185694993 1713 111 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTACGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773838 184773839 184773839 downstr_intron 4 1.064516 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTACGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 32 77 0.8 0.8 0.8 0.9740884 0.9537219 0.9699502 0.9627013 NA NA -0.1699502 -0.1627013 0.9639052 0.9663257 NA -0.1663257 NA FALSE NA 0.999 1.908 . splice_region_variant&intron_variant LOW ACSL1 HGNC 3569 ENST00000504900 8/11 1 NA CTT T,G 8.236e-06 4:184773839 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 splice_region_variant 1.957331 0.97742 0.90893 0.295142 0.9418439 0.43693 0.09183733 FALSE 4.06607e-06 ENSE00002308296_009 ENSE00002308296 009 4 185694934 185695103 - 63 33 74 C A 185695003 1714 101 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAATCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773848 184773849 184773849 exon -7 0.8181818 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAATCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 409 282 0.9849376 0.9225049 0.9537213 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.01498745 -0.04019641 0.9639052 0.9663257 NA -0.01260448 NA FALSE NA 0.969 -0.128 . missense_variant MODERATE ACSL1 HGNC 3569 ENST00000504900 8/12 1 tolerated(0.07) possibly_damaging(0.744) NA GCT C,A 8.236e-06 4:184773849 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 missense_variant 3.355306 0.97675 0.73246 0.706298 0.9947748 0 0.09183733 FALSE 4.06659e-06 ENSE00002308296_010 ENSE00002308296 010 4 185694934 185695103 - 63 33 74 C T 185695006 1715 98 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGAAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773851 184773852 184773852 exon -10 0.7272727 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGAAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 109 372 0.9568345 0.9643128 0.9605737 0.9740884 0.9537219 0.9699502 0.9627013 NA NA -0.01311564 0.001611553 0.9639052 0.9663257 NA -0.005752045 NA FALSE NA 0.001 -0.288 . synonymous_variant LOW ACSL1 HGNC 3569 ENST00000504900 8/12 1 NA TCC C,T 8.236e-06 4:184773852 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 synonymous_variant 1.98047 0.54402 0.13235 0.706298 0.6994038 0 0.09183733 FALSE 4.0665e-06 ENSE00002308296_011 ENSE00002308296 011 4 185694934 185695103 - 63 33 74 C T 185695007 1716 97 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACAGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773852 184773853 184773853 exon -11 0.6969697 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACAGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 414 963 0.9924039 0.9816679 0.9870359 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.02245368 0.01896659 0.9639052 0.9663257 NA 0.02071013 NA FALSE NA 0 -2.037 . missense_variant MODERATE ACSL1 HGNC 3569 ENST00000504900 8/12 COSM1618654 1 tolerated(0.69) benign(0.015) NA CCG C,T 4.942e-05 4:184773853 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 missense_variant 0.51932 0.11122 0.00219 0.706298 0.8581368 0 0.09183733 FALSE 3.25346e-05 ENSE00002308296_020 ENSE00002308296 020 4 185694934 185695103 - 63 33 74 A G 185695062 1725 42 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTCCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773907 184773908 184773908 upstr_intron -33 -0.4324324 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTCCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 259 108 0.9985611 0.9792952 0.9889281 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.02861093 0.01659388 0.9639052 0.9663257 NA 0.0226024 NA FALSE NA 0.001 0.012 . intron_variant MODIFIER ACSL1 HGNC 3569 ENST00000504900 7/11 1 NA GAA A,G 1.647e-05 4:184773908 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant 0.673488 0.21756 0.03389 0.099367 0.6252572 0.0889542 0.09183733 FALSE 2.04384e-05 ENSE00002308296_021 ENSE00002308296 021 4 185694934 185695103 - 63 33 74 C T 185695065 1726 39 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACATTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773910 184773911 184773911 upstr_intron -36 -0.472973 GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACATTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 770 89 0.9965284 0.9982188 0.9973736 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.02657822 0.03551754 0.9639052 0.9663257 NA 0.03104788 NA FALSE NA 0 -0.307 NA NA NA ACSL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:184773911 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant 0.150452 0.11851 0.0296 0.099367 0.849887 0.0889542 0.09183733 FALSE 6.1488e-05 ENSE00002308296_023 ENSE00002308296 023 4 185694934 185695103 - 63 33 74 T G 185695069 1728 35 GTGACTCGATGTGACCTTATCCTTTACAGTTAGACAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC 184773779 184773949 184773914 184773915 184773915 upstr_intron -40 -0.527027 GTGACTCGATGTGACCTTATCCTTTACAGTTAGACAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC GTGACTCGATGTGACCTTATCCTTTACAGTTAGAAAACGTTTCCATTTAAGACTTTTTTTCTCTTCTAATTAAGGACCTGGGAAGAGCCAACAGACGGAAGCCCAAGGTAAGCACACCGTGTCAGACCCTGCTCTGTCCTCTTTGTAGTTTTCAATATCTAGCCTGGTAC mutant NA NA NA NA NA 331 331 0.997867 0.9877522 0.9928096 0.9740884 0.9537219 0.9699502 0.9627013 NA NA 0.02791681 0.02505089 0.9639052 0.9663257 NA 0.02648385 NA FALSE NA 0.003 0.295 . intron_variant MODIFIER ACSL1 HGNC 3569 ENST00000504900 7/11 1 NA TTT T,G 8.237e-06 4:184773915 ACSL1 HGNC Symbol protein_coding 71223 ENSG00000151726 ENSE00003658512 intron_variant 0.519427 0.18641 0.03288 0.099367 0.7063864 0.0900669 0.09183733 FALSE 4.10442e-06 ENSE00002308659_000 ENSE00002308659 000 16 70182322 70182491 + 45 90 35 NA NA NA NA NA AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 NA NA NA NA NA NA AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT natural 671 1059 0.8475455 0.8384945 0.84302 1387 1028 0.9464939 0.9375595 0.9420267 0.8475455 0.8384945 0.9464939 0.9375595 0 0 0 0 0.84302 0.9420267 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDPR NA NA NA ENSG00000090857 ENSE00003586851 NA NA NA NA NA NA NA 4.850262e-08 FALSE NA ENSE00002308659_005 ENSE00002308659 005 16 70182322 70182491 + 45 90 35 A G 70182383 2404 62 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTGTGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148479 70148480 70148480 exon 17 0.1888889 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTGTGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 1071 442 0.9988027 0.999642 0.9992224 0.8475455 0.8384945 0.9464939 0.9375595 NA NA 0.05230884 0.06208254 0.84302 0.9420267 NA 0.05719569 NA FALSE NA 1 9.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:70148480 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 missense_variant 6.384555 0.99075 0.98678 0.706548 0.9912245 0 4.850262e-08 FALSE 4.07199e-06 ENSE00002308659_006 ENSE00002308659 006 16 70182322 70182491 + 45 90 35 A G 70182388 2405 67 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAGATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148484 70148485 70148485 exon 22 0.2444444 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAGATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 1545 897 0.9540122 0.9971336 0.9755729 0.8475455 0.8384945 0.9464939 0.9375595 NA NA 0.007518388 0.05957408 0.84302 0.9420267 NA 0.03354624 NA FALSE NA 1 9.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:70148485 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 missense_variant 3.003897 0.99067 0.98675 0.706548 0.9884824 0 4.850262e-08 FALSE 8.14292e-06 ENSE00002308659_007 ENSE00002308659 007 16 70182322 70182491 + 45 90 35 A C 70182388 2406 67 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCACATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148484 70148485 70148485 exon 22 0.2444444 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCACATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 621 1172 0.8227004 0.9213271 0.8720138 0.8475455 0.8384945 0.9464939 0.9375595 NA NA -0.1237935 -0.01623235 0.84302 0.9420267 NA -0.07001291 NA FALSE NA 1 9.284 NA NA NA PDPR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDPR NA NA NA ENSG00000090857 ENSE00003586851 missense_variant 5.283614 0.99082 0.9879 0.706548 0.9820016 0 4.850262e-08 FALSE 1.22144e-05 ENSE00002308659_009 ENSE00002308659 009 16 70182322 70182491 + 45 90 35 C T 70182396 2408 75 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATTCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148492 70148493 70148493 exon 30 0.3333333 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATTCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant 65 151 0.841521 0.85 0.8457605 NA NA NA NA NA 0.8475455 0.8384945 0.9464939 0.9375595 -0.006024491 0.01150548 NA NA 0.84302 0.9420267 0.002740492 NA NA NA FALSE 1 4.047 . synonymous_variant LOW PDPR HGNC 30264 ENST00000563930 3/5 1 NA TCC C,T 8.255e-06 16:70148493 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 synonymous_variant 2.159654 0.98781 0.93315 0.706548 0.8183636 0 4.850262e-08 FALSE NA ENSE00002308659_010 ENSE00002308659 010 16 70182322 70182491 + 45 90 35 C T 70182397 2409 76 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCTGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148493 70148494 70148494 exon 31 0.3444444 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCTGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant 83 104 0.85 0.85 0.85 NA NA NA NA NA 0.8475455 0.8384945 0.9464939 0.9375595 0.002454532 0.01150548 NA NA 0.84302 0.9420267 0.006980004 NA NA NA FALSE 1 4.142 . missense_variant MODERATE PDPR HGNC 30264 ENST00000563930 3/5 rs367587632 1 deleterious(0) probably_damaging(0.997) NA T:0.0002 T:0 CCG C,T 4.127e-05 16:70148494 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 missense_variant 7.618242 0.97134 0.89945 0.706548 0.9987877 0 4.850262e-08 FALSE NA ENSE00002308659_012 ENSE00002308659 012 16 70182322 70182491 + 45 90 35 G A 70182414 2411 93 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACACACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148510 70148511 70148511 exon -43 0.5333333 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACACACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 369 47 0.8564928 0.8061537 0.8313232 0.8475455 0.8384945 0.9464939 0.9375595 NA NA -0.09000107 -0.1314058 0.84302 0.9420267 NA -0.1107034 NA FALSE NA 0 -3.748 . synonymous_variant LOW PDPR HGNC 30264 ENST00000563930 3/5 1 NA CGC G,A 1.651e-05 16:70148511 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 synonymous_variant 1.517919 0.10413 0.02672 0.706548 0.7137485 0 4.850262e-08 FALSE NA ENSE00002308659_014 ENSE00002308659 014 16 70182322 70182491 + 45 90 35 G A 70182422 2413 101 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGAAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148518 70148519 70148519 exon -35 0.6222222 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGAAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 315 53 1 0.9908907 0.9954454 0.8475455 0.8384945 0.9464939 0.9375595 NA NA 0.05350615 0.05333126 0.84302 0.9420267 NA 0.0534187 NA FALSE NA 1 9.81 . missense_variant MODERATE PDPR HGNC 30264 ENST00000563930 3/5 1 deleterious(0.04) possibly_damaging(0.585) NA GGA G,A 1.651e-05 16:70148519 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 missense_variant 5.267738 0.99308 0.98894 0.706548 0.9974258 0 4.850262e-08 FALSE 2.44294e-05 ENSE00002308659_015 ENSE00002308659 015 16 70182322 70182491 + 45 90 35 A G 70182436 2414 115 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCGTGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148532 70148533 70148533 exon -21 0.7777778 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCGTGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 1938 21 0.9985522 1 0.9992761 0.8475455 0.8384945 0.9464939 0.9375595 NA NA 0.05205838 0.06244052 0.84302 0.9420267 NA 0.05724945 NA FALSE NA 1 6.29 . missense_variant MODERATE PDPR HGNC 30264 ENST00000563930 3/5 rs375512554 1 tolerated(1) benign(0.015) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0001 CAT A,G 2.476e-05 16:70148533 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 missense_variant 0.61905 0.9846 0.95872 0.706548 0.9024796 0 4.850262e-08 FALSE 2.04105e-05 ENSE00002308659_017 ENSE00002308659 017 16 70182322 70182491 + 45 90 35 A T 70182451 2416 130 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCTTAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148547 70148548 70148548 exon -6 0.9444444 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCTTAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 317 18 0.8975038 0.8080379 0.8527708 0.8475455 0.8384945 0.9464939 0.9375595 NA NA -0.04899008 -0.1295216 0.84302 0.9420267 NA -0.08925585 NA FALSE NA 1 9.284 . missense_variant MODERATE PDPR HGNC 30264 ENST00000563930 3/5 rs555937185 1 deleterious(0.05) possibly_damaging(0.472) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CAT A,T 8.252e-06 16:70148548 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 missense_variant 5.194938 0.99076 0.98681 0.706548 0.9862947 0 4.850262e-08 FALSE 4.10813e-06 ENSE00002308659_018 ENSE00002308659 018 16 70182322 70182491 + 45 90 35 G A 70182459 2417 138 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTAAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148555 70148556 70148556 downstr_intron 3 1.088235 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTAAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 50 1069 1 0.9984906 0.9992453 0.8475455 0.8384945 0.9464939 0.9375595 NA NA 0.05350615 0.06093114 0.84302 0.9420267 NA 0.05721864 NA FALSE NA 1 1.231 . splice_region_variant&intron_variant LOW PDPR HGNC 30264 ENST00000563930 3/4 1 NA TGA G,A 1.651e-05 16:70148556 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 splice_region_variant 1.672832 0.96038 0.64108 0.115753 0.6820275 0.366339 4.850262e-08 FALSE 1.24023e-05 ENSE00002308659_020 ENSE00002308659 020 16 70182322 70182491 + 45 90 35 C T 70182470 2419 149 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCTTTCCCTTCCCTTCCCTTCACT 70148418 70148588 70148566 70148567 70148567 downstr_intron 14 1.411765 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCTTTCCCTTCCCTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 60 256 0.8999166 0.9461887 0.9230527 0.8475455 0.8384945 0.9464939 0.9375595 NA NA -0.04657721 0.008629258 0.84302 0.9420267 NA -0.01897398 NA FALSE NA 0.001 0.239 . intron_variant MODIFIER PDPR HGNC 30264 ENST00000563930 3/4 rs373753249 1 NA T:0.0002 T:0.0002 CCT C,T 0.0001571 16:70148567 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 non_coding_transcript_exon_variant -0.24618 0.19546 0.00675 0.115753 0.2716537 0.0558143 4.850262e-08 FALSE 0.000214893 ENSE00002308659_021 ENSE00002308659 021 16 70182322 70182491 + 45 90 35 C T 70182480 2420 159 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCTTTCCCTTCACT 70148418 70148588 70148576 70148577 70148577 downstr_intron 24 1.705882 AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCTTTCCCTTCACT AAGTAATGTGAGTGCCCAGGCTGACTGCTGCCTTTGTCCCTGCAGGAGATGAGTGTGGGCTATGCAAATGGGATCCGGGTGATGAGCATGACGCACACAGGAGAGCCAGGATTCATGCTCTACATCCCCATAGAGGTGAGAGGGCACCCTTCCCTTCCCTTCCCTTCACT mutant NA NA NA NA NA 13 86 0.95 0.95 0.95 0.8475455 0.8384945 0.9464939 0.9375595 NA NA 0.003506145 0.01244052 0.84302 0.9420267 NA 0.007973331 NA FALSE NA 0.321 1.135 . intron_variant MODIFIER PDPR HGNC 30264 ENST00000563930 3/4 1 NA CCT C,T 1.663e-05 16:70148577 PDPR HGNC Symbol protein_coding 48911 ENSG00000090857 ENSE00003586851 non_coding_transcript_exon_variant -0.179799 0.34105 0.03408 0.115753 0.4613184 0.0534718 4.850262e-08 FALSE 1.38687e-05 ENSE00002308835_000 ENSE00002308835 000 22 42995672 42995841 - 32 96 42 NA NA NA NA NA AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 NA NA NA NA NA NA AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG natural 30 57 1 0.9971078 0.9985539 542 1443 0.9894788 0.9982401 0.9938594 1 0.9971078 0.9894788 0.9982401 0 0 0 0 0.9985539 0.9938594 0 0 0 FALSE FALSE NA NA NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLDIP3 NA NA NA ENSG00000100227 ENSE00003487565 NA NA NA NA NA NA NA 0.8323199 FALSE NA ENSE00002308835_001 ENSE00002308835 001 22 42995672 42995841 - 32 96 42 G A 42995684 1245 158 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTTTTACACTGCGTG 42599665 42599835 42599677 42599678 42599678 downstr_intron 20 1.645161 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTTTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 1668 2076 0.9939719 0.9982124 0.9960921 1 0.9971078 0.9894788 0.9982401 NA NA 0.004493114 -2.772711e-05 0.9985539 0.9938594 NA 0.002232693 NA FALSE NA 0.005 -0.13 . intron_variant MODIFIER POLDIP3 HGNC 23782 ENST00000451060 3/6 1 NA AGA G,A 8.236e-06 22:42599678 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 intron_variant 0.245709 0.16932 0.05864 0.295142 0.567979 0.0906799 0.8323199 FALSE 4.08197e-06 ENSE00002308835_002 ENSE00002308835 002 22 42995672 42995841 - 32 96 42 A G 42995687 1246 155 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTCTTCTTACACTGCGTG 42599665 42599835 42599680 42599681 42599681 downstr_intron 17 1.548387 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTCTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 1272 127 0.999759 0.9987527 0.9992558 1 0.9971078 0.9894788 0.9982401 NA NA 0.01028021 0.0005125207 0.9985539 0.9938594 NA 0.005396367 NA FALSE NA 0.003 0.018 . intron_variant MODIFIER POLDIP3 HGNC 23782 ENST00000451060 3/6 1 NA AAA A,G 8.236e-06 22:42599681 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 intron_variant 0.41832 0.51834 0.11641 0.295142 0.6316813 0.900417 0.8323199 FALSE 4.0796e-06 ENSE00002308835_003 ENSE00002308835 003 22 42995672 42995841 - 32 96 42 G A 42995692 1247 150 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTTATGTTTTCTTACACTGCGTG 42599665 42599835 42599685 42599686 42599686 downstr_intron 12 1.387097 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTTATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 659 113 1 1 1 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.001759864 0.9985539 0.9938594 NA 0.006140552 NA FALSE NA 0 -0.692 . intron_variant MODIFIER POLDIP3 HGNC 23782 ENST00000451060 3/6 rs373237031 1 NA A:0.0002 A:0 TGA G,A 8.236e-06 22:42599686 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 intron_variant 0.082339 0.1319 0.01303 0.295142 0.5523556 0.0895627 0.8323199 FALSE 8.15262e-06 ENSE00002308835_004 ENSE00002308835 004 22 42995672 42995841 - 32 96 42 T A 42995696 1248 146 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCTTTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599689 42599690 42599690 downstr_intron 8 1.258065 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCTTTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 694 235 0.9911604 1 0.9955802 1 0.9971078 0.9894788 0.9982401 NA NA 0.001681627 0.001759864 0.9985539 0.9938594 NA 0.001720745 NA FALSE NA 0 -0.831 . splice_region_variant&intron_variant LOW POLDIP3 HGNC 23782 ENST00000451060 3/6 rs372140702 1 NA ATG T,A 5.765e-05 22:42599690 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 splice_region_variant 0.499911 0.16409 0.07406 0.295142 0.4266915 0.138172 0.8323199 FALSE 5.29342e-05 ENSE00002308835_005 ENSE00002308835 005 22 42995672 42995841 - 32 96 42 G C 42995697 1249 145 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGGATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599690 42599691 42599691 downstr_intron 7 1.225806 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGGATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 425 725 0.9980471 0.99889 0.9984686 1 0.9971078 0.9894788 0.9982401 NA NA 0.008568357 0.0006498532 0.9985539 0.9938594 NA 0.004609105 NA FALSE NA 0 -0.393 . splice_region_variant&intron_variant LOW POLDIP3 HGNC 23782 ENST00000451060 3/6 1 NA TGC G,C 8.236e-06 22:42599691 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 splice_region_variant -0.043518 0.21147 0.10307 0.295142 0.3022065 0.139584 0.8323199 FALSE 4.0711e-06 ENSE00002308835_007 ENSE00002308835 007 22 42995672 42995841 - 32 96 42 T C 42995706 1251 136 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACGTGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599699 42599700 42599700 exon -3 0.9791667 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACGTGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 213 227 1 0.9993027 0.9996513 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.001062518 0.9985539 0.9938594 NA 0.00579188 NA FALSE NA 0 -1.636 . missense_variant&splice_region_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0) NA ATG T,C 8.236e-06 22:42599700 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant -2.187317 0.12472 0.02353 0.706548 0.3097896 0 0.8323199 FALSE 4.07106e-06 ENSE00002308835_008 ENSE00002308835 008 22 42995672 42995841 - 32 96 42 G A 42995712 1252 130 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCTACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599705 42599706 42599706 exon -9 0.9166667 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCTACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 846 378 0.9988266 0.9928198 0.9958232 1 0.9971078 0.9894788 0.9982401 NA NA 0.009347883 -0.005420342 0.9985539 0.9938594 NA 0.001963771 NA FALSE NA 1 3.465 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:42599706 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 0.878669 0.62236 0.94623 0.706548 0.9730234 0 0.8323199 FALSE 5.2926e-05 ENSE00002308835_009 ENSE00002308835 009 22 42995672 42995841 - 32 96 42 G T 42995712 1253 130 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCAACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599705 42599706 42599706 exon -9 0.9166667 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCAACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 40 673 1 1 1 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.001759864 0.9985539 0.9938594 NA 0.006140552 NA FALSE NA 1 3.465 NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLDIP3 NA NA NA ENSG00000100227 ENSE00003487565 missense_variant 0.98774 0.65733 0.97411 0.706548 0.899076 0 0.8323199 FALSE 3.25698e-05 ENSE00002308835_010 ENSE00002308835 010 22 42995672 42995841 - 32 96 42 G A 42995713 1254 129 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTTCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599706 42599707 42599707 exon -10 0.90625 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTTCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 1429 693 1 0.9973765 0.9986882 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 -0.0008636808 0.9985539 0.9938594 NA 0.00482878 NA FALSE NA 0.924 -0.166 . synonymous_variant LOW POLDIP3 HGNC 23782 ENST00000451060 3/7 1 NA GGA G,A 1.647e-05 22:42599707 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 synonymous_variant -0.609591 0.15784 0.62161 0.706548 0.3893055 0 0.8323199 FALSE 2.0351e-05 ENSE00002308835_011 ENSE00002308835 011 22 42995672 42995841 - 32 96 42 C A 42995720 1255 122 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGTCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599713 42599714 42599714 exon -17 0.8333333 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGTCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 1352 815 0.9966676 0.9999066 0.9982871 1 0.9971078 0.9894788 0.9982401 NA NA 0.007188869 0.001666418 0.9985539 0.9938594 NA 0.004427644 NA FALSE NA 1 2.386 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0.017) NA GCC C,A 1.647e-05 22:42599714 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 3.777467 0.98595 0.98789 0.706548 0.9857049 0 0.8323199 FALSE 4.07014e-06 ENSE00002308835_012 ENSE00002308835 012 22 42995672 42995841 - 32 96 42 C T 42995721 1256 121 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCAGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599714 42599715 42599715 exon -18 0.8229167 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCAGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 2469 376 0.9949333 0.9995791 0.9972562 1 0.9971078 0.9894788 0.9982401 NA NA 0.005454517 0.001339014 0.9985539 0.9938594 NA 0.003396765 NA FALSE NA 1 1.204 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0) NA CCG C,T 3.295e-05 22:42599715 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 0.873182 0.90574 0.02911 0.706548 0.4107746 0 0.8323199 FALSE 3.25574e-05 ENSE00002308835_014 ENSE00002308835 014 22 42995672 42995841 - 32 96 42 G T 42995722 1258 120 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGAGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599715 42599716 42599716 exon -19 0.8125 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGAGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 13 654 1 1 1 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.001759864 0.9985539 0.9938594 NA 0.006140552 NA FALSE NA 1 3.775 NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:42599716 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 synonymous_variant 0.486977 0.98022 0.98002 0.706548 0.5818035 0 0.8323199 FALSE 1.62756e-05 ENSE00002308835_015 ENSE00002308835 015 22 42995672 42995841 - 32 96 42 C T 42995724 1259 118 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAAGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599717 42599718 42599718 exon -21 0.7916667 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAAGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 461 1441 0.8510215 0.9580926 0.904557 1 0.9971078 0.9894788 0.9982401 NA NA -0.1384573 -0.04014753 0.9985539 0.9938594 NA -0.08930242 NA FALSE NA 0.202 0.144 rs144152039 missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 rs144152039 1 benign(0.002) T:0.0012 T:0.0045 T:0 NA T:0 T:0 T:0 T:0.0039 T:0.0002 CCT C,T 0.0004942 22:42599718 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 1.141896 0.52227 0.06397 0.706548 0.8700573 0 0.8323199 FALSE 0.00033355 ENSE00002308835_016 ENSE00002308835 016 22 42995672 42995841 - 32 96 42 A G 42995727 1260 115 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCCCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599720 42599721 42599721 exon -24 0.7604167 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCCCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 497 456 1 1 1 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.001759864 0.9985539 0.9938594 NA 0.006140552 NA FALSE NA 0.832 0.308 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0) NA GAG A,G 1.647e-05 22:42599721 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 0.961848 0.22917 0.50157 0.706548 0.9808557 0 0.8323199 FALSE 8.13544e-06 ENSE00002308835_017 ENSE00002308835 017 22 42995672 42995841 - 32 96 42 G A 42995728 1261 114 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCTTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599721 42599722 42599722 exon -25 0.75 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCTTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 389 449 1 0.9983731 0.9991866 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.0001330046 0.9985539 0.9938594 NA 0.005327123 NA FALSE NA 0.842 0.36 . synonymous_variant LOW POLDIP3 HGNC 23782 ENST00000451060 3/7 1 NA AGG G,A 8.236e-06 22:42599722 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 synonymous_variant 0.26298 0.2229 0.65808 0.706548 0.4169631 0 0.8323199 FALSE NA ENSE00002308835_018 ENSE00002308835 018 22 42995672 42995841 - 32 96 42 G A 42995732 1262 110 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGTAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599725 42599726 42599726 exon -29 0.7083333 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGTAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 696 957 1 0.9084522 0.9542261 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 -0.08978791 0.9985539 0.9938594 NA -0.03963334 NA FALSE NA 0.671 2.981 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0.002) NA TGC G,A 8.236e-06 22:42599726 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 2.41226 0.35801 0.57907 0.706548 0.9955571 0 0.8323199 FALSE 4.47744e-05 ENSE00002308835_019 ENSE00002308835 019 22 42995672 42995841 - 32 96 42 T C 42995738 1263 104 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAGGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599731 42599732 42599732 exon -35 0.6458333 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAGGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 2716 335 0.963436 0.9995276 0.9814818 1 0.9971078 0.9894788 0.9982401 NA NA -0.02604273 0.001287474 0.9985539 0.9938594 NA -0.01237763 NA FALSE NA 1 5.252 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 probably_damaging(0.998) NA CTT T,C 1.647e-05 22:42599732 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 5.004344 0.98843 0.98793 0.706548 0.9991133 0 0.8323199 FALSE 4.06736e-06 ENSE00002308835_020 ENSE00002308835 020 22 42995672 42995841 - 32 96 42 T C 42995748 1264 94 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTGAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599741 42599742 42599742 exon -45 0.5416667 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTGAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 858 867 1 0.9103044 0.9551522 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 -0.08793574 0.9985539 0.9938594 NA -0.03870725 NA FALSE NA 1 5.208 rs148681314 missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 rs148681314 1 probably_damaging(0.913) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 TTA T,C 2.471e-05 22:42599742 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 6.09401 0.988 0.98765 0.706548 0.9984962 0 0.8323199 FALSE 2.44029e-05 ENSE00002308835_021 ENSE00002308835 021 22 42995672 42995841 - 32 96 42 G A 42995750 1265 92 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTATTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599743 42599744 42599744 exon -47 0.5208333 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTATTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 1572 83 0.9232205 0.8744718 0.8988461 1 0.9971078 0.9894788 0.9982401 NA NA -0.06625829 -0.1237684 0.9985539 0.9938594 NA -0.09501333 NA FALSE NA 1 1.567 rs142177671 missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 rs142177671 1 benign(0.025) NA A:0 A:0.0001 AGT G,A 3.295e-05 22:42599744 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 2.968838 0.89471 0.87763 0.706548 0.9964147 0 0.8323199 FALSE 4.06706e-05 ENSE00002308835_022 ENSE00002308835 022 22 42995672 42995841 - 32 96 42 G C 42995754 1266 88 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTGCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599747 42599748 42599748 exon 46 0.4791667 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTGCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 327 874 0.9910313 1 0.9955157 1 0.9971078 0.9894788 0.9982401 NA NA 0.001552572 0.001759864 0.9985539 0.9938594 NA 0.001656218 NA FALSE NA 1 1.7 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 rs199649790 1 benign(0.008) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 GGA G,C 8.236e-06 22:42599748 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 0.244053 0.89053 0.90987 0.706548 0.8196753 0 0.8323199 FALSE 8.14034e-06 ENSE00002308835_024 ENSE00002308835 024 22 42995672 42995841 - 32 96 42 G C 42995758 1268 84 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCGGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599751 42599752 42599752 exon 42 0.4375 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCGGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 2561 561 0.9982688 0.9964789 0.9973738 1 0.9971078 0.9894788 0.9982401 NA NA 0.008789995 -0.001761192 0.9985539 0.9938594 NA 0.003514402 NA FALSE NA 0.003 -0.131 NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:42599752 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 synonymous_variant 0.465578 0.23084 0.27842 0.706548 0.5115027 0 0.8323199 FALSE 4.88222e-05 ENSE00002308835_025 ENSE00002308835 025 22 42995672 42995841 - 32 96 42 G A 42995762 1269 80 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGTTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599755 42599756 42599756 exon 38 0.3958333 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGTTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 1406 316 0.9990176 0.9908298 0.9949237 1 0.9971078 0.9894788 0.9982401 NA NA 0.009538876 -0.007410365 0.9985539 0.9938594 NA 0.001064256 NA FALSE NA 0.941 2.325 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0.002) NA AGC G,A 8.236e-06 22:42599756 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 1.713543 0.39799 0.82554 0.706548 0.9706719 0 0.8323199 FALSE 4.06898e-06 ENSE00002308835_026 ENSE00002308835 026 22 42995672 42995841 - 32 96 42 C T 42995769 1270 73 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATAGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599762 42599763 42599763 exon 31 0.3229167 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATAGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 416 1483 0.9985066 0.9986666 0.9985866 1 0.9971078 0.9894788 0.9982401 NA NA 0.009027822 0.0004264496 0.9985539 0.9938594 NA 0.004727136 NA FALSE NA 0 -0.156 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0) NA CCA C,T 8.236e-06 22:42599763 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 1.961929 0.24439 0.08542 0.706548 0.9114055 0 0.8323199 FALSE NA ENSE00002308835_027 ENSE00002308835 027 22 42995672 42995841 - 32 96 42 C T 42995772 1271 70 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATAATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599765 42599766 42599766 exon 28 0.2916667 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATAATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 496 563 1 1 1 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.001759864 0.9985539 0.9938594 NA 0.006140552 NA FALSE NA 0.997 5.114 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0.004) NA TCA C,T 8.236e-06 22:42599766 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 3.278655 0.9902 0.98809 0.706548 0.9985029 0 0.8323199 FALSE 4.07644e-06 ENSE00002308835_028 ENSE00002308835 028 22 42995672 42995841 - 32 96 42 T C 42995777 1272 65 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGGTGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599770 42599771 42599771 exon 23 0.2395833 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGGTGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 119 86 1 1 1 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.001759864 0.9985539 0.9938594 NA 0.006140552 NA FALSE NA 1 5.252 . missense_variant MODERATE POLDIP3 HGNC 23782 ENST00000451060 3/7 1 benign(0.187) NA ATC T,C 8.236e-06 22:42599771 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 missense_variant 4.656112 0.98838 0.98792 0.706548 0.9973053 0 0.8323199 FALSE 4.07661e-06 ENSE00002308835_029 ENSE00002308835 029 22 42995672 42995841 - 32 96 42 T C 42995779 1273 63 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAGGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599772 42599773 42599773 exon 21 0.21875 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAGGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 285 839 0.9918344 0.9768867 0.9843605 1 0.9971078 0.9894788 0.9982401 NA NA 0.002355624 -0.02135343 0.9985539 0.9938594 NA -0.009498904 NA FALSE NA 0.991 0.179 . synonymous_variant LOW POLDIP3 HGNC 23782 ENST00000451060 3/7 1 NA CTT T,C 8.236e-06 22:42599773 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 synonymous_variant 0.373631 0.96498 0.84623 0.706548 0.6788714 0 0.8323199 FALSE 4.07993e-06 ENSE00002308835_030 ENSE00002308835 030 22 42995672 42995841 - 32 96 42 G A 42995804 1274 38 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTTTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599797 42599798 42599798 upstr_intron -5 -0.0952381 AGATGCCACATTTGCTTATATTTCTTTATGTTATATTTTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 862 1215 0.997631 0.9982423 0.9979367 1 0.9971078 0.9894788 0.9982401 NA NA 0.008152208 2.203382e-06 0.9985539 0.9938594 NA 0.004077206 NA FALSE NA 0.076 -0.079 . splice_region_variant&intron_variant LOW POLDIP3 HGNC 23782 ENST00000451060 2/6 1 NA AGA G,A 8.236e-06 22:42599798 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 splice_region_variant 1.663466 0.21519 0.04897 0.099367 0.7397325 0.309586 0.8323199 FALSE 4.09853e-06 ENSE00002308835_031 ENSE00002308835 031 22 42995672 42995841 - 32 96 42 A T 42995823 1275 19 AGATGCCACATTTGCTTAAATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 42599816 42599817 42599817 upstr_intron -24 -0.547619 AGATGCCACATTTGCTTAAATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG mutant NA NA NA NA NA 660 88 1 1 1 1 0.9971078 0.9894788 0.9982401 NA NA 0.01052124 0.001759864 0.9985539 0.9938594 NA 0.006140552 NA FALSE NA 0 -0.171 . intron_variant MODIFIER POLDIP3 HGNC 23782 ENST00000451060 2/6 rs540836034 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TAT A,T 1.647e-05 22:42599817 POLDIP3 HGNC Symbol protein_coding 31241 ENSG00000100227 ENSE00003487565 intron_variant -0.22325 0.21038 0.18006 0.062308 0.7864567 0.121998 0.8323199 FALSE 4.19104e-06 ENSE00002308835_BRK ENSE00002308835 BRK 22 42995672 42995841 - 32 96 42 A,G; T,T NA NA NA AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCTTAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGCCATGGCATTTCATGTTTTCTTACACTGCGTG 42599665 42599835 NA NA NA NA NA NA AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCTTAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGCCATGGCATTTCATGTTTTCTTACACTGCGTG AGATGCCACATTTGCTTATATTTCTTTATGTTATATTCTCAGAATTTATATGACCTGGATGAAGATGATGATGGTATAGCTTCCGTTCCTACTAAACAGATGAAGTTTGCAGCCTCAGGCGGCTTTCTCCACCACATGGTATGGCATTTCATGTTTTCTTACACTGCGTG control NA NA NA NA NA 185 1577 0 0.08344729 0.04172364 1 0.9971078 0.9894788 0.9982401 NA NA -0.9894788 -0.9147928 0.9985539 0.9938594 NA -0.9521358 NA TRUE NA NA NA NA NA NA POLDIP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLDIP3 NA NA NA ENSG00000100227 ENSE00003487565 NA NA NA NA NA NA NA 0.8323199 FALSE NA ENSE00002310311_000 ENSE00002310311 000 2 230650443 230650612 - 30 99 41 NA NA NA NA NA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 NA NA NA NA NA NA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA natural 59 45 0.9781872 0.957641 0.9679141 1766 2092 0.9503674 0.9482889 0.9493282 0.9781872 0.957641 0.9503674 0.9482889 0 0 0 0 0.9679141 0.9493282 0 0 0 FALSE FALSE NA NA NA NA NA TRIP12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIP12 NA NA NA ENSG00000153827 ENSE00002310311 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002310311_002 ENSE00002310311 002 2 230650443 230650612 - 30 99 41 A G 230650455 5167 158 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGCGATGGTTATTTA 229785726 229785896 229785738 229785739 229785739 downstr_intron 18 1.62069 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGCGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 523 915 0.9713669 0.9876829 0.9795249 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.02099949 0.03939399 0.9679141 0.9493282 NA 0.03019674 NA FALSE NA 0 -0.063 . intron_variant MODIFIER TRIP12 HGNC 12306 ENST00000283943 33/40 1 NA CAC A,G 4.942e-05 2:229785739 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 intron_variant 0.083449 0.22522 0.07785 0.295142 0.2981611 0.152182 1 TRUE 2.87522e-05 ENSE00002310311_003 ENSE00002310311 003 2 230650443 230650612 - 30 99 41 A G 230650458 5168 155 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCCGGTGATGGTTATTTA 229785726 229785896 229785741 229785742 229785742 downstr_intron 15 1.517241 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCCGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 567 351 0.9512962 0.9510457 0.9511709 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.0009287706 0.002756773 0.9679141 0.9493282 NA 0.001842772 NA FALSE NA 0 -0.561 . intron_variant MODIFIER TRIP12 HGNC 12306 ENST00000283943 33/40 rs571748191 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAG A,G 8.236e-06 2:229785742 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 intron_variant -0.392216 0.14741 0.0252 0.295142 0.2302049 0.152182 1 TRUE 4.0985e-06 ENSE00002310311_004 ENSE00002310311 004 2 230650443 230650612 - 30 99 41 G A 230650488 5169 125 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATTCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785771 229785772 229785772 exon -16 0.8484848 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATTCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 246 22 0.9353949 1 0.9676975 0.9781872 0.957641 0.9503674 0.9482889 NA NA -0.0149725 0.05171111 0.9679141 0.9493282 NA 0.01836931 NA FALSE NA 1 1.689 . synonymous_variant LOW TRIP12 HGNC 12306 ENST00000283943 33/41 1 NA GGA G,A 8.236e-05 2:229785772 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 synonymous_variant 1.248937 0.96908 0.81853 0.706548 0.7330802 0 1 TRUE 6.51285e-05 ENSE00002310311_005 ENSE00002310311 005 2 230650443 230650612 - 30 99 41 G A 230650515 5170 98 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTTGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785798 229785799 229785799 exon -43 0.5757576 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTTGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 2256 1362 0.9991735 0.9925453 0.9958594 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.04880611 0.04425639 0.9679141 0.9493282 NA 0.04653125 NA FALSE NA 0 -3.041 . synonymous_variant LOW TRIP12 HGNC 12306 ENST00000283943 33/41 1 NA CGA G,A 6.589e-05 2:229785799 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 synonymous_variant 1.30126 0.13764 0.02629 0.706548 0.6202245 0 1 TRUE 4.06878e-05 ENSE00002310311_007 ENSE00002310311 007 2 230650443 230650612 - 30 99 41 C T 230650536 5172 77 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCAGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785819 229785820 229785820 exon 36 0.3636364 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCAGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 790 223 0.8492374 0.8989885 0.874113 0.9781872 0.957641 0.9503674 0.9482889 NA NA -0.10113 -0.04930038 0.9679141 0.9493282 NA -0.07521519 NA FALSE NA 0 -3.216 rs189366062 synonymous_variant LOW TRIP12 HGNC 12306 ENST00000283943 33/41 rs189366062&COSM477049 1 T:0.0032 T:0 T:0 NA T:0.0159 T:0 T:0 CCG C,T 0.0008978 2:229785820 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 synonymous_variant 2.235755 0.04642 0.01248 0.706548 0.6290925 0 1 TRUE 0.000931864 ENSE00002310311_008 ENSE00002310311 008 2 230650443 230650612 - 30 99 41 C T 230650545 5173 68 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTAAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785828 229785829 229785829 exon 27 0.2727273 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTAAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 893 231 0.9924453 0.9974721 0.9949587 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.04207782 0.0491832 0.9679141 0.9493282 NA 0.04563051 NA FALSE NA 1 0.883 . synonymous_variant LOW TRIP12 HGNC 12306 ENST00000283943 33/41 rs368855179 1 NA T:0.0002 T:0 TCA C,T 1.647e-05 2:229785829 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 synonymous_variant 1.359007 0.9782 0.83132 0.706548 0.6887871 0 1 TRUE 8.1414e-06 ENSE00002310311_009 ENSE00002310311 009 2 230650443 230650612 - 30 99 41 A C 230650546 5174 67 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCGGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785829 229785830 229785830 exon 26 0.2626263 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCGGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 692 172 0.9941498 1 0.9970749 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.04378236 0.05171111 0.9679141 0.9493282 NA 0.04774674 NA FALSE NA 1 8.861 . missense_variant MODERATE TRIP12 HGNC 12306 ENST00000283943 33/41 1 deleterious(0) probably_damaging(0.996) NA CAG A,C 8.237e-06 2:229785830 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 missense_variant 6.427715 0.99231 0.98932 0.706548 0.9981023 0 1 TRUE NA ENSE00002310311_010 ENSE00002310311 010 2 230650443 230650612 - 30 99 41 C G 230650563 5175 50 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTCAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785846 229785847 229785847 exon 9 0.09090909 GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTCAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 256 3995 0.9980548 0.997145 0.9975999 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.04768737 0.0488561 0.9679141 0.9493282 NA 0.04827174 NA FALSE NA 1 4.576 . synonymous_variant LOW TRIP12 HGNC 12306 ENST00000283943 33/41 COSM303454 1 NA TCA C,G 8.237e-06 2:229785847 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 synonymous_variant 1.189786 0.9828 0.94831 0.706548 0.724803 0 1 TRUE 4.0811e-06 ENSE00002310311_011 ENSE00002310311 011 2 230650443 230650612 - 30 99 41 C G 230650589 5176 24 GGGTAGAGCATAGTTTCCTGACACTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785872 229785873 229785873 upstr_intron -18 -0.4146341 GGGTAGAGCATAGTTTCCTGACACTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 1147 58 0.997637 1 0.9988185 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.04726961 0.05171111 0.9679141 0.9493282 NA 0.04949036 NA FALSE NA 0 0.334 . intron_variant MODIFIER TRIP12 HGNC 12306 ENST00000283943 32/40 rs551204848 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 ACT C,G 5.766e-05 2:229785873 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 intron_variant -0.231734 0.18799 0.02422 0.062308 0.5175111 0.121008 1 TRUE 3.82419e-05 ENSE00002310311_012 ENSE00002310311 012 2 230650443 230650612 - 30 99 41 G A 230650595 5177 18 GGGTAGAGCATAGTTTCTTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785878 229785879 229785879 upstr_intron -24 -0.5609756 GGGTAGAGCATAGTTTCTTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 832 849 0.9008274 0.9401286 0.920478 0.9781872 0.957641 0.9503674 0.9482889 NA NA -0.04954004 -0.008160321 0.9679141 0.9493282 NA -0.02885018 NA FALSE NA 0.86 0.519 . intron_variant MODIFIER TRIP12 HGNC 12306 ENST00000283943 32/40 1 NA AGG G,A 8.237e-06 2:229785879 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 intron_variant 0.336872 0.23473 0.07273 0.099367 0.6453739 0.121008 1 TRUE 4.31704e-06 ENSE00002310311_013 ENSE00002310311 013 2 230650443 230650612 - 30 99 41 A C 230650597 5178 16 GGGTAGAGCATAGTTGCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785880 229785881 229785881 upstr_intron -26 -0.6097561 GGGTAGAGCATAGTTGCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 168 543 0.9980237 0.8640229 0.9310233 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.04765623 -0.08426599 0.9679141 0.9493282 NA -0.01830488 NA FALSE NA 0 0.755 . intron_variant MODIFIER TRIP12 HGNC 12306 ENST00000283943 32/40 1 NA GAA A,C 8.237e-06 2:229785881 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 intron_variant 0.096236 0.30786 0.16532 0.099367 0.5466426 0.121008 1 TRUE 4.31716e-06 ENSE00002310311_014 ENSE00002310311 014 2 230650443 230650612 - 30 99 41 A T 230650599 5179 14 GGGTAGAGCATAGATTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 229785882 229785883 229785883 upstr_intron -28 -0.6585366 GGGTAGAGCATAGATTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA mutant NA NA NA NA NA 345 481 0.9984389 0.9971737 0.9978063 0.9781872 0.957641 0.9503674 0.9482889 NA NA 0.04807145 0.04888486 0.9679141 0.9493282 NA 0.04847816 NA FALSE NA 0 0.702 . intron_variant MODIFIER TRIP12 HGNC 12306 ENST00000283943 32/40 rs373628449 1 NA AAC A,T 8.237e-06 2:229785883 TRIP12 HGNC Symbol protein_coding 159401 ENSG00000153827 ENSE00002310311 intron_variant 0.24012 0.60313 0.42002 0.099367 0.7966522 0.121008 1 TRUE 8.72844e-06 ENSE00002310311_BRK ENSE00002310311 BRK 2 230650443 230650612 - 30 99 41 A,G; T,T NA NA NA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTTTCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGCCGAGCTTGGAGTCTGGTGATGGTTATTTA 229785726 229785896 NA NA NA NA NA NA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTTTCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGCCGAGCTTGGAGTCTGGTGATGGTTATTTA GGGTAGAGCATAGTTTCCTGACAGTTGTACTTTCTTTGTAGCGTACTGTGAACCGAGAGGAGCTGCTGAAACAGGCGGAGTCTGTGATGCAGGACCTCGGCAGCTCACGGGCCATGTTAGAAATCCAGTATGAAAATGAGGTGAGCTTGGAGTCTGGTGATGGTTATTTA control 174 346 0 0 0 215 1566 0 0.01902477 0.009512384 0.9781872 0.957641 0.9503674 0.9482889 -0.9781872 -0.957641 -0.9503674 -0.9292641 0.9679141 0.9493282 -0.9679141 -0.9398158 0.02809834 TRUE TRUE NA NA NA NA NA TRIP12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIP12 NA NA NA ENSG00000153827 ENSE00002310311 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002310443_000 ENSE00002310443 000 16 87935470 87935639 - 48 63 59 NA NA NA NA NA GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 NA NA NA NA NA NA TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC natural NA NA NA NA NA 804 340 0.9640699 0.9985315 0.9813007 NA NA 0.9640699 0.9985315 NA NA 0 0 NA 0.9813007 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA5A NA NA NA ENSG00000174990 ENSE00002310443 NA NA NA NA NA NA NA 0.01072314 FALSE NA ENSE00002310443_002 ENSE00002310443 002 16 87935470 87935639 - 48 63 59 C G 87935484 3162 156 GGCGTGAGCCTCCGGGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901877 87901878 87901878 downstr_intron 34 1.723404 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCCCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 72 418 1 1 1 NA NA 0.9640699 0.9985315 NA NA 0.03593006 0.001468519 NA 0.9813007 NA 0.01869929 NA FALSE NA 0 -0.431 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87901878 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.626956 0.09289 0.0081 0.084033 0.548479 0.046875 0.01072314 FALSE 0.000122605 ENSE00002310443_005 ENSE00002310443 005 16 87935470 87935639 - 48 63 59 G T 87935485 3165 155 GGCGTGAGCCTCCGCTCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901878 87901879 87901879 downstr_intron 33 1.702128 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGAGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 984 146 0.9981026 0.9634715 0.9807871 NA NA 0.9640699 0.9985315 NA NA 0.0340327 -0.03505997 NA 0.9813007 NA -0.0005136337 NA FALSE NA 0 -0.158 NA NA NA CA5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87901879 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.42133 0.07354 0.00418 0.084033 0.4069126 0.046875 0.01072314 FALSE 1.63373e-05 ENSE00002310443_008 ENSE00002310443 008 16 87935470 87935639 - 48 63 59 C T 87935491 3168 149 GGCGTGAGCCTCCGCGCCCGGTCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901884 87901885 87901885 downstr_intron 27 1.574468 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGACCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 186 250 0.9874458 1 0.9937229 NA NA 0.9640699 0.9985315 NA NA 0.02337582 0.001468519 NA 0.9813007 NA 0.01242217 NA FALSE NA 0.001 -0.005 . intron_variant MODIFIER CA5A HGNC 1377 ENST00000309893 5/6 1 NA GCC C 0.0001318 16:87901885 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant 0.250629 0.09331 0.00174 0.084033 0.8730647 0.046875 0.01072314 FALSE 0.000150761 ENSE00002310443_010 ENSE00002310443 010 16 87935470 87935639 - 48 63 59 A G 87935498 3170 142 GGCGTGAGCCTCCGCGCCCGGCCTGCTGGTTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901891 87901892 87901892 downstr_intron 20 1.425532 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAACCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 417 193 1 1 1 NA NA 0.9640699 0.9985315 NA NA 0.03593006 0.001468519 NA 0.9813007 NA 0.01869929 NA FALSE NA 0.007 -0.462 . intron_variant MODIFIER CA5A HGNC 1377 ENST00000309893 5/6 1 NA GAT A 8.236e-06 16:87901892 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant 0.922283 0.13601 0.00325 0.084033 0.6969584 0.046875 0.01072314 FALSE 4.06848e-06 ENSE00002310443_011 ENSE00002310443 011 16 87935470 87935639 - 48 63 59 T C 87935499 3171 141 GGCGTGAGCCTCCGCGCCCGGCCTGCTGACTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901892 87901893 87901893 downstr_intron 19 1.404255 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAGTCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 185 15 1 1 1 NA NA 0.9640699 0.9985315 NA NA 0.03593006 0.001468519 NA 0.9813007 NA 0.01869929 NA FALSE NA 0.004 0.165 . intron_variant MODIFIER CA5A HGNC 1377 ENST00000309893 5/6 1 NA ATT T 1.647e-05 16:87901893 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant 0.818304 0.1529 0.01524 0.084033 0.7082996 0.046875 0.01072314 FALSE 8.13597e-06 ENSE00002310443_012 ENSE00002310443 012 16 87935470 87935639 - 48 63 59 A G 87935504 3172 136 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAGATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901897 87901898 87901898 downstr_intron 14 1.297872 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATCTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant 10 15 1 0.9927816 0.9963908 505 130 0.918822 1 0.959411 NA NA 0.9640699 0.9985315 NA NA -0.04524791 0.001468519 NA 0.9813007 NA -0.0218897 NA FALSE NA 0 -2.549 . intron_variant MODIFIER CA5A HGNC 1377 ENST00000309893 5/6 1 NA AAA A 8.236e-06 16:87901898 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant 0.587795 0.17256 0.01268 0.084033 0.7084061 0.07986 0.01072314 FALSE 4.0665e-06 ENSE00002310443_013 ENSE00002310443 013 16 87935470 87935639 - 48 63 59 T C 87935508 3173 132 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATACGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901901 87901902 87901902 downstr_intron 10 1.212766 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCGTATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 100 163 0.997924 1 0.998962 NA NA 0.9640699 0.9985315 NA NA 0.03385403 0.001468519 NA 0.9813007 NA 0.01766128 NA FALSE NA 0 -0.877 . intron_variant MODIFIER CA5A HGNC 1377 ENST00000309893 5/6 1 NA ATG T 2.471e-05 16:87901902 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.228501 0.13034 0.00215 0.084033 0.5363132 0.0809794 0.01072314 FALSE 2.43952e-05 ENSE00002310443_017 ENSE00002310443 017 16 87935470 87935639 - 48 63 59 C T 87935533 3177 107 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCTGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901926 87901927 87901927 exon -16 0.7619048 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCAGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 256 57 0.8564631 1 0.9282315 NA NA 0.9640699 0.9985315 NA NA -0.1076068 0.001468519 NA 0.9813007 NA -0.05306916 NA FALSE NA 0 -3.202 rs189523393 synonymous_variant LOW CA5A HGNC 1377 ENST00000309893 5/7 rs189523393 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 CCG C 4.942e-05 16:87901927 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 synonymous_variant 1.010062 0.07333 0.0031 0.497415 0.6095041 0 0.01072314 FALSE 3.65747e-05 ENSE00002310443_018 ENSE00002310443 018 16 87935470 87935639 - 48 63 59 A T 87935538 3178 102 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCATGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901931 87901932 87901932 exon -21 0.6825397 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCATGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 295 32 1 0.9950252 0.9975126 NA NA 0.9640699 0.9985315 NA NA 0.03593006 -0.003506247 NA 0.9813007 NA 0.01621191 NA FALSE NA 0.964 0.702 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87901932 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 missense_variant 3.190338 0.90495 0.78922 0.497415 0.9879218 0 0.01072314 FALSE 4.06326e-06 ENSE00002310443_019 ENSE00002310443 019 16 87935470 87935639 - 48 63 59 A C 87935538 3179 102 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCACGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901931 87901932 87901932 exon -21 0.6825397 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCGTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 31 14 1 1 1 NA NA 0.9640699 0.9985315 NA NA 0.03593006 0.001468519 NA 0.9813007 NA 0.01869929 NA FALSE NA 0.964 0.702 NA NA NA CA5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA5A NA NA NA ENSG00000174990 ENSE00002310443 missense_variant 2.93118 0.90687 0.79976 0.497415 0.9932723 0 0.01072314 FALSE NA ENSE00002310443_020 ENSE00002310443 020 16 87935470 87935639 - 48 63 59 G T 87935542 3180 98 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATTTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901935 87901936 87901936 exon -25 0.6190476 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGAAATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 108 506 0.9102389 0.9992443 0.9547416 NA NA 0.9640699 0.9985315 NA NA -0.05383104 0.0007128444 NA 0.9813007 NA -0.0265591 NA FALSE NA 0.002 -0.566 . missense_variant MODERATE CA5A HGNC 1377 ENST00000309893 5/7 1 tolerated(0.08) benign(0.017) NA TGT G 7.413e-05 16:87901936 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 missense_variant 0.327897 0.52886 0.02053 0.497415 0.9617606 0 0.01072314 FALSE NA ENSE00002310443_021 ENSE00002310443 021 16 87935470 87935639 - 48 63 59 C T 87935544 3181 96 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTTCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901937 87901938 87901938 exon -27 0.5873016 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGAACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 80 69 0.8104072 1 0.9052036 NA NA 0.9640699 0.9985315 NA NA -0.1536627 0.001468519 NA 0.9813007 NA -0.07609709 NA FALSE NA 0.444 1.084 . missense_variant MODERATE CA5A HGNC 1377 ENST00000309893 5/7 1 deleterious(0.05) benign(0.112) NA TCC C 8.237e-06 16:87901938 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 missense_variant 2.767346 0.96999 0.73361 0.497415 0.9962946 0 0.01072314 FALSE 4.06299e-06 ENSE00002310443_023 ENSE00002310443 023 16 87935470 87935639 - 48 63 59 C T 87935560 3183 80 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGTGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901953 87901954 87901954 exon 21 0.3333333 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACACTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 113 17 0.9974224 1 0.9987112 NA NA 0.9640699 0.9985315 NA NA 0.0333525 0.001468519 NA 0.9813007 NA 0.01741051 NA FALSE NA 0 -0.898 . synonymous_variant LOW CA5A HGNC 1377 ENST00000309893 5/7 1 NA GCG C 2.471e-05 16:87901954 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 synonymous_variant 1.173405 0.15043 0.01106 0.497415 0.4125183 0 0.01072314 FALSE 8.12592e-06 ENSE00002310443_024 ENSE00002310443 024 16 87935470 87935639 - 48 63 59 G A 87935561 3184 79 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCATCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901954 87901955 87901955 exon 20 0.3174603 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGATGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 229 111 1 0.9913535 0.9956767 NA NA 0.9640699 0.9985315 NA NA 0.03593006 -0.00717801 NA 0.9813007 NA 0.01437603 NA FALSE NA 0 -0.187 rs145215237 missense_variant MODERATE CA5A HGNC 1377 ENST00000309893 5/7 rs145215237 1 deleterious(0.04) possibly_damaging(0.86) NA A:0.0007 A:0 CGT A 4.942e-05 16:87901955 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 missense_variant 2.247866 0.17002 0.03616 0.497415 0.9940392 0 0.01072314 FALSE 4.4694e-05 ENSE00002310443_025 ENSE00002310443 025 16 87935470 87935639 - 48 63 59 G T 87935573 3185 67 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGTCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901966 87901967 87901967 exon 8 0.1269841 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGACCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 172 23 0.8561356 1 0.9280678 NA NA 0.9640699 0.9985315 NA NA -0.1079344 0.001468519 NA 0.9813007 NA -0.05323293 NA FALSE NA 0.031 1.906 . missense_variant MODERATE CA5A HGNC 1377 ENST00000309893 5/7 1 tolerated(0.57) benign(0.43) NA GGC G 1.647e-05 16:87901967 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 missense_variant 0.590037 0.19518 0.0933 0.497415 0.9195002 0 0.01072314 FALSE 1.62522e-05 ENSE00002310443_027 ENSE00002310443 027 16 87935470 87935639 - 48 63 59 C G 87935575 3187 65 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCGCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901968 87901969 87901969 exon 6 0.0952381 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGCGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 36 641 1 0.9988401 0.99942 NA NA 0.9640699 0.9985315 NA NA 0.03593006 0.0003085835 NA 0.9813007 NA 0.01811932 NA FALSE NA 0.057 0.111 . synonymous_variant LOW CA5A HGNC 1377 ENST00000309893 5/7 1 NA CCC C 8.236e-06 16:87901969 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 synonymous_variant 0.218203 0.13823 0.01934 0.497415 0.4310735 0 0.01072314 FALSE 4.06279e-06 ENSE00002310443_030 ENSE00002310443 030 16 87935470 87935639 - 48 63 59 C A 87935593 3190 47 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGAAAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901986 87901987 87901987 upstr_intron -13 -0.2033898 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTTTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 353 1116 0.9898297 0.9983113 0.9940705 NA NA 0.9640699 0.9985315 NA NA 0.02575978 -0.0002201371 NA 0.9813007 NA 0.01276982 NA FALSE NA 0.87 1.255 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87901987 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.156818 0.14808 0.37657 0.084033 0.3749082 0.0822831 0.01072314 FALSE 4.06428e-06 ENSE00002310443_031 ENSE00002310443 031 16 87935470 87935639 - 48 63 59 C G 87935593 3191 47 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGAGAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901986 87901987 87901987 upstr_intron -13 -0.2033898 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTCTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 105 106 0.9722418 1 0.9861209 NA NA 0.9640699 0.9985315 NA NA 0.00817182 0.001468519 NA 0.9813007 NA 0.004820169 NA FALSE NA 0.87 1.255 NA NA NA CA5A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA5A NA NA NA ENSG00000174990 ENSE00002310443 intron_variant -0.233953 0.13637 0.34095 0.084033 0.34218 0.0822831 0.01072314 FALSE 4.06428e-06 ENSE00002310443_033 ENSE00002310443 033 16 87935470 87935639 - 48 63 59 G A 87935601 3193 39 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGAGGTTAGCTGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87901994 87901995 87901995 upstr_intron -21 -0.3389831 TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCTCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 70 55 1 0.9957373 0.9978686 NA NA 0.9640699 0.9985315 NA NA 0.03593006 -0.002794194 NA 0.9813007 NA 0.01656793 NA FALSE NA 0 -0.439 . intron_variant MODIFIER CA5A HGNC 1377 ENST00000309893 4/6 1 NA GGG G 2.471e-05 16:87901995 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.001308 0.12491 0.0055 0.084033 0.4740478 0.0784456 0.01072314 FALSE 1.21979e-05 ENSE00002310443_034 ENSE00002310443 034 16 87935470 87935639 - 48 63 59 T C 87935609 3194 31 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCCGCAAAGGCAGTGGATGGGGGGGGAAGCTCA 87901863 87902033 87902002 87902003 87902003 upstr_intron -29 -0.4745763 TGAGCTTCCCCCCCCATCCACTGCCTTTGCGGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 34 25 0.9963112 1 0.9981556 NA NA 0.9640699 0.9985315 NA NA 0.03224131 0.001468519 NA 0.9813007 NA 0.01685491 NA FALSE NA 0 -1.337 rs183913921 intron_variant MODIFIER CA5A HGNC 1377 ENST00000309893 4/6 rs183913921 1 C:0.0022 C:0.0076 C:0.0014 NA C:0 C:0 C:0 C:0.0123 C:0 CTG T 0.0009967 16:87902003 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.182995 0.11362 0.00219 0.084033 0.3655383 0.0784001 0.01072314 FALSE 0.000687467 ENSE00002310443_038 ENSE00002310443 038 16 87935470 87935639 - 48 63 59 G C 87935625 3198 15 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATCGGGGGGGAAGCTCA 87901863 87902033 87902018 87902019 87902019 upstr_intron -45 -0.7457627 TGAGCTTCCCCCCCGATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 21 131 1 0.9958263 0.9979132 NA NA 0.9640699 0.9985315 NA NA 0.03593006 -0.002705148 NA 0.9813007 NA 0.01661246 NA FALSE NA 0 -1.409 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87902019 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.521402 0.084 0.00304 0.084033 0.5117411 0.0448725 0.01072314 FALSE 4.15766e-05 ENSE00002310443_039 ENSE00002310443 039 16 87935470 87935639 - 48 63 59 G A 87935625 3199 15 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATAGGGGGGGAAGCTCA 87901863 87902033 87902018 87902019 87902019 upstr_intron -45 -0.7457627 TGAGCTTCCCCCCCTATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 256 476 0.9972347 1 0.9986173 NA NA 0.9640699 0.9985315 NA NA 0.03316474 0.001468519 NA 0.9813007 NA 0.01731663 NA FALSE NA 0 -1.409 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA5A NA NA NA ENSG00000174990 ENSE00002310443 intron_variant -0.157235 0.04417 0.00106 0.084033 0.5163996 0.0448725 0.01072314 FALSE 8.31532e-06 ENSE00002310443_040 ENSE00002310443 040 16 87935470 87935639 - 48 63 59 G C 87935626 3200 14 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGCGGGGGGAAGCTCA 87901863 87902033 87902019 87902020 87902020 upstr_intron -46 -0.7627119 TGAGCTTCCCCCCGCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 12 90 0.95 0.9924719 0.9712359 NA NA 0.9640699 0.9985315 NA NA -0.01406994 -0.006059624 NA 0.9813007 NA -0.01006478 NA FALSE NA 0.001 -0.142 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87902020 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.31592 0.13138 0.03416 0.084033 0.3527609 0.0448725 0.01072314 FALSE 6.94558e-05 ENSE00002310443_042 ENSE00002310443 042 16 87935470 87935639 - 48 63 59 G T 87935626 3202 14 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGTGGGGGGAAGCTCA 87901863 87902033 87902019 87902020 87902020 upstr_intron -46 -0.7627119 TGAGCTTCCCCCCACATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 23 147 1 1 1 NA NA 0.9640699 0.9985315 NA NA 0.03593006 0.001468519 NA 0.9813007 NA 0.01869929 NA FALSE NA 0.001 -0.142 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA5A NA NA NA ENSG00000174990 ENSE00002310443 intron_variant -0.230779 0.1147 0.01582 0.084033 0.4281256 0.0448725 0.01072314 FALSE 8.17127e-06 ENSE00002310443_043 ENSE00002310443 043 16 87935470 87935639 - 48 63 59 G C 87935627 3203 13 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGCGGGGGAAGCTCA 87901863 87902033 87902020 87902021 87902021 upstr_intron -47 -0.779661 TGAGCTTCCCCCGCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 694 40 0.9989875 1 0.9994938 NA NA 0.9640699 0.9985315 NA NA 0.0349176 0.001468519 NA 0.9813007 NA 0.01819306 NA FALSE NA 0.038 2.386 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87902021 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.301961 0.1335 0.09013 0.084033 0.3518994 0.0789936 0.01072314 FALSE 0.000366823 ENSE00002310443_044 ENSE00002310443 044 16 87935470 87935639 - 48 63 59 G T 87935627 3204 13 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGTGGGGGAAGCTCA 87901863 87902033 87902020 87902021 87902021 upstr_intron -47 -0.779661 TGAGCTTCCCCCACCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 505 11 0.9023666 1 0.9511833 NA NA 0.9640699 0.9985315 NA NA -0.06170335 0.001468519 NA 0.9813007 NA -0.03011741 NA FALSE NA 0.038 2.386 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00002310443 intron_variant -0.146272 0.12483 0.08048 0.084033 0.4283583 0.0789936 0.0002572748 FALSE 9.78194e-05 ENSE00002310443_045 ENSE00002310443 045 16 87935470 87935639 - 48 63 59 G A 87935627 3205 13 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGAGGGGGAAGCTCA 87901863 87902033 87902020 87902021 87902021 upstr_intron -47 -0.779661 TGAGCTTCCCCCTCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 305 755 0.9986428 0.9989855 0.9988141 NA NA 0.9640699 0.9985315 NA NA 0.0345729 0.0004539766 NA 0.9813007 NA 0.01751344 NA FALSE NA 0.038 2.386 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA5A NA NA NA ENSG00000174990 ENSE00002310443 intron_variant 0.028535 0.10433 0.04886 0.084033 0.4138581 0.0789936 0.01072314 FALSE 4.07581e-06 ENSE00002310443_046 ENSE00002310443 046 16 87935470 87935639 - 48 63 59 G C 87935628 3206 12 GGCGTGAGCCTCCGCGCCCGGCCTGCTGATTTCAAATATGCAGCTTACCTTATGTTTTATTTCCGGCAAGATGTCCACCAGCCTCTGCAGCGTCTGATGATGGGCCCCGAGCTGCATGGCAGACAAAGGAGGGGTTAGCTGCAAAGGCAGTGGATGGGCGGGGAAGCTCA 87901863 87902033 87902021 87902022 87902022 upstr_intron -48 -0.7966102 TGAGCTTCCCCGCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC mutant NA NA NA NA NA 47 634 0.911142 1 0.955571 NA NA 0.9640699 0.9985315 NA NA -0.05292795 0.001468519 NA 0.9813007 NA -0.02572972 NA FALSE NA 0.001 -0.762 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:87902022 CA5A HGNC Symbol protein_coding 54983 ENSG00000174990 ENSE00002310443 intron_variant -0.857675 0.07665 0.01003 0.084033 0.4838323 0.0448725 0.01072314 FALSE 0.0920205 ENSE00002310443_BRK ENSE00002310443 BRK 16 87935470 87935639 - 48 63 59 A,G; T,T NA NA NA TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCTTCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGCCAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC 87901863 87902033 NA NA NA NA NA NA TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCTTCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGCCAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC TGAGCTTCCCCCCCCATCCACTGCCTTTGCAGCTAACCCCTCCTTTGTCTGCCATGCAGCTCGGGGCCCATCATCAGACGCTGCAGAGGCTGGTGGACATCTTGCCGGAAATAAAACATAAGGTAAGCTGCATATTTGAAATCAGCAGGCCGGGCGCGGAGGCTCACGCC control 157 19 0 0 0 42 37 0 0 0 NA NA 0.9640699 0.9985315 NA NA -0.9640699 -0.9985315 NA 0.9813007 NA -0.9813007 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CA5A NA NA NA ENSG00000174990 ENSE00002310443 NA NA NA NA NA NA NA 0.01072314 FALSE NA ENSE00002311500_000 ENSE00002311500 000 19 49860461 49860630 - 48 63 59 NA NA NA NA NA CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 NA NA NA NA NA NA GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG natural 1612 1692 0.847275 0.8388698 0.8430724 2381 3612 0.7926735 0.595461 0.6940673 0.847275 0.8388698 0.7926735 0.595461 0 0 0 0 0.8430724 0.6940673 0 0 0 FALSE FALSE NA NA NA NA NA TEAD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEAD2 NA NA NA ENSG00000074219 ENSE00003535692 NA NA NA NA NA NA NA 0.002047317 FALSE NA ENSE00002311500_BRK ENSE00002311500 BRK 19 49860461 49860630 - 48 63 59 A,G; T,T NA NA NA CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTGGCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACAAGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 NA NA NA NA NA NA GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCTTGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGCCAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG control 50 139 0 0 0 553 129 0 0.01749702 0.008748511 0.847275 0.8388698 0.7926735 0.595461 -0.847275 -0.8388698 -0.7926735 -0.577964 0.8430724 0.6940673 -0.8430724 -0.6853188 0.1577536 TRUE TRUE NA NA NA NA NA TEAD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TEAD2 NA NA NA ENSG00000074219 ENSE00003535692 NA NA NA NA NA NA NA 0.002047317 FALSE NA ENSE00002312953_000 ENSE00002312953 000 19 54647931 54648100 + 42 96 32 NA NA NA NA NA CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 NA NA NA NA NA NA GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG natural 265 273 0.9836656 0.978101 0.9808833 3240 1784 0.9579312 0.972588 0.9652596 0.9836656 0.978101 0.9579312 0.972588 0 0 0 0 0.9808833 0.9652596 0 0 0 FALSE FALSE NA NA NA NA NA CNOT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNOT3 NA NA NA ENSG00000088038 ENSE00003520390 NA NA NA NA NA NA NA 0.9999672 TRUE NA ENSE00002312953_001 ENSE00002312953 001 19 54647931 54648100 + 42 96 32 T C 54647941 3169 11 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCGGCTAGGGTTC 54144194 54144364 54144204 54144205 54144205 upstr_intron -32 -0.7380952 GAACCCTAGCCGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 160 383 0.7825134 0.9556443 0.8690789 0.9836656 0.978101 0.9579312 0.972588 NA NA -0.1754178 -0.01694374 0.9808833 0.9652596 NA -0.09618076 NA FALSE NA 0.002 1.285 . intron_variant&NMD_transcript_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 2/14 1 NA CTG T,C 8.236e-06 19:54144205 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 intron_variant -0.317843 0.17379 0.20562 0.256867 0.4316357 0.0494618 0.9999672 TRUE 4.07382e-06 ENSE00002312953_002 ENSE00002312953 002 19 54647931 54648100 + 42 96 32 C T 54647960 3170 30 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAAAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144223 54144224 54144224 upstr_intron -13 -0.2857143 GAACCCTAGCTGATGGGCTTCCTCTTCCTTTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 101 165 0.9938745 0.9803313 0.9871029 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.03594326 0.007743236 0.9808833 0.9652596 NA 0.02184325 NA FALSE NA 0 -0.923 . intron_variant&NMD_transcript_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 2/14 1 NA TCT C,T 8.236e-06 19:54144224 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 intron_variant -0.272472 0.24678 0.06347 0.256867 0.4474528 0.0421136 0.9999672 TRUE 2.84493e-05 ENSE00002312953_004 ENSE00002312953 004 19 54647931 54648100 + 42 96 32 C T 54647967 3172 37 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGAGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144230 54144231 54144231 upstr_intron -6 -0.1190476 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCTCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 377 281 0.990477 0.9994564 0.9949667 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.03254583 0.0268684 0.9808833 0.9652596 NA 0.02970711 NA FALSE NA 0 -0.859 . splice_region_variant&intron_variant&NMD_transcript_variant LOW CNOT3 HGNC 7879 ENST00000447684 2/14 1 NA CCC C,T 3.295e-05 19:54144231 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 splice_region_variant 0.327459 0.21662 0.20723 0.256867 0.4989034 0.0490251 0.9999672 TRUE 4.06336e-05 ENSE00002312953_005 ENSE00002312953 005 19 54647931 54648100 + 42 96 32 C T 54647981 3173 51 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCAATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144244 54144245 54144245 exon 9 0.09375 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATTGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 81 314 0.9594246 0.9689882 0.9642064 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.001493399 -0.003599868 0.9808833 0.9652596 NA -0.001053234 NA FALSE NA 0.96 0.099 rs147131517 synonymous_variant&NMD_transcript_variant LOW CNOT3 HGNC 7879 ENST00000447684 3/15 1 NA TCG C,T 4.118e-05 19:54144245 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 synonymous_variant 1.845071 0.96187 0.83871 0.706548 0.828596 0 0.9999672 TRUE 4.06207e-05 ENSE00002312953_006 ENSE00002312953 006 19 54647931 54648100 + 42 96 32 C T 54647984 3174 54 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTATCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144247 54144248 54144248 exon 12 0.125 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGATACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 39 1033 0.99894 0.9605583 0.9797492 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.04100878 -0.01202969 0.9808833 0.9652596 NA 0.01448954 NA FALSE NA 1 4.543 . synonymous_variant&NMD_transcript_variant LOW CNOT3 HGNC 7879 ENST00000447684 3/15 1 NA ACA C,T 1.647e-05 19:54144248 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 synonymous_variant 0.979056 0.98616 0.9856 0.706548 0.5218794 0 0.9999672 TRUE 8.12367e-06 ENSE00002312953_007 ENSE00002312953 007 19 54647931 54648100 + 42 96 32 C T 54647986 3175 56 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCATGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144249 54144250 54144250 exon 14 0.1458333 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACATGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 221 169 1 1 1 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.0420688 0.02741198 0.9808833 0.9652596 NA 0.03474039 NA FALSE NA 1 7.335 rs138688054 missense_variant&NMD_transcript_variant MODERATE CNOT3 HGNC 7879 ENST00000447684 3/15 1 deleterious(0.02) possibly_damaging(0.605) NA ACG C,T 4.942e-05 19:54144250 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 missense_variant 5.787512 0.99082 0.99686 0.706548 0.998754 0 0.9999672 TRUE 4.06177e-05 ENSE00002312953_008 ENSE00002312953 008 19 54647931 54648100 + 42 96 32 G A 54648002 3176 72 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCTACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144265 54144266 54144266 exon 30 0.3125 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTAGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 198 101 0.8255785 0.8 0.8127892 0.9836656 0.978101 0.9579312 0.972588 NA NA -0.1323527 -0.172588 0.9808833 0.9652596 NA -0.1524704 NA FALSE NA 1 7.279 rs142741743 synonymous_variant&NMD_transcript_variant LOW CNOT3 HGNC 7879 ENST00000447684 3/15 1 NA TGG G,A 4.942e-05 19:54144266 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 synonymous_variant 1.045869 0.99419 0.99562 0.706548 0.8302817 0 0.9999672 TRUE 4.87365e-05 ENSE00002312953_010 ENSE00002312953 010 19 54647931 54648100 + 42 96 32 G A 54648032 3178 102 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGATAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144295 54144296 54144296 exon -37 0.625 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTATCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 111 73 1 1 1 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.0420688 0.02741198 0.9808833 0.9652596 NA 0.03474039 NA FALSE NA 0.93 0.423 . synonymous_variant&NMD_transcript_variant LOW CNOT3 HGNC 7879 ENST00000447684 3/15 1 NA TGT G,A 8.236e-06 19:54144296 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 synonymous_variant 0.852454 0.97022 0.90728 0.706548 0.7367461 0 0.9999672 TRUE 4.06141e-06 ENSE00002312953_011 ENSE00002312953 011 19 54647931 54648100 + 42 96 32 G A 54648041 3179 111 CATCCCAAAGGTGTCGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTTTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144304 54144305 54144305 exon -28 0.71875 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAAACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 492 133 0.8408335 0.998809 0.9198213 0.9836656 0.978101 0.9579312 0.972588 NA NA -0.1170977 0.02622099 0.9808833 0.9652596 NA -0.04543834 NA FALSE NA 1 0.932 . synonymous_variant&NMD_transcript_variant LOW CNOT3 HGNC 7879 ENST00000447684 3/15 1 NA AGA G,A 8.236e-06 19:54144305 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 synonymous_variant 0.612798 0.96897 0.91052 0.706548 0.6995002 0 0.9999672 TRUE 8.12381e-06 ENSE00002312953_013 ENSE00002312953 013 19 54647931 54648100 + 42 96 32 G C 54648075 3181 145 CATCCCAAAGGTGTCGGGTCTCCCTGACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144338 54144339 54144339 downstr_intron 7 1.225806 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTCAGGGAGACCCGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 63 712 0.9564363 0.9448232 0.9506297 0.9836656 0.978101 0.9579312 0.972588 NA NA -0.001494949 -0.02776479 0.9808833 0.9652596 NA -0.01462987 NA FALSE NA 1 0.614 . splice_region_variant&intron_variant&NMD_transcript_variant LOW CNOT3 HGNC 7879 ENST00000447684 3/14 1 NA TGA G,C 8.236e-06 19:54144339 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 splice_region_variant 1.077256 0.96637 0.61351 0.099367 0.7207712 0.496327 0.9999672 TRUE NA ENSE00002312953_014 ENSE00002312953 014 19 54647931 54648100 + 42 96 32 C T 54648085 3182 155 CATCCCAAAGGTGTCAGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144348 54144349 54144349 downstr_intron 17 1.548387 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCTGACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 59 199 1 0.9980644 0.9990322 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.0420688 0.02547635 0.9808833 0.9652596 NA 0.03377257 NA FALSE NA 0 0.398 . intron_variant&NMD_transcript_variant MODIFIER CNOT3 HGNC 7879 ENST00000447684 3/14 1 NA CCG C,T 0.00014 19:54144349 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 intron_variant -0.094894 0.24071 0.214 0.099367 0.4738575 0.0585392 0.9999672 TRUE 0.000122579 ENSE00002312953_015 ENSE00002312953 015 19 54647931 54648100 + 42 96 32 G A 54648086 3183 156 CATCCCAAAGGTGTTGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144349 54144350 54144350 downstr_intron 18 1.580645 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCAACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 228 170 0.995201 1 0.9976005 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.03726982 0.02741198 0.9808833 0.9652596 NA 0.0323409 NA FALSE NA 0 -5.788 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:54144350 CNOT3 HGNC Symbol protein_coding 17991 ENSG00000088038 ENSE00003520390 intron_variant -1.189363 0.03225 0.01073 0.099367 0.3826312 0.0507379 0.9999672 TRUE 1.22702e-05 ENSE00002312953_016 ENSE00002312953 016 19 54647931 54648100 + 42 96 32 G T 54648086 3184 156 CATCCCAAAGGTGTAGGGTCTCCCTCACTCACATCCTTGTCGCCCTTCTTCTTGCGTGTCTGCACTGACAGTGACTCCACTTCACTCTCAAACTGGTCCACCTGCATGTTGAGCGTGTCGATGGTATTCTAGGGGAGGGAGAGGAAGAGGAAGCCCATCAGCTAGGGTTC 54144194 54144364 54144349 54144350 54144350 downstr_intron 18 1.580645 GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCTACACCTTTGGGATG GAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATG mutant NA NA NA NA NA 281 186 1 0.9177232 0.9588616 0.9836656 0.978101 0.9579312 0.972588 NA NA 0.0420688 -0.0548648 0.9808833 0.9652596 NA -0.006398001 NA FALSE NA 0 -5.788 NA NA NA CNOT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNOT3 NA NA NA ENSG00000088038 ENSE00003520390 intron_variant -1.374069 0.03671 0.01877 0.099367 0.2719095 0.0507379 0.9999672 TRUE 4.09008e-06 ENSE00002313946_000 ENSE00002313946 000 22 51007972 51008141 - 33 93 44 NA NA NA NA NA CAAGGTTTGATTTATGCCTTCTTCACCCTTCTTGTTGCCCTCAGGTAGCAGATGATGGCTATGGAGTTTCCTACATGATTGCAGGCGAGAACACGATCTTCTTCCACATCTCCAGCAAGTTCTCAAGCTCAGAGACGGTGAGTCTCCTGCCACAGCTCAGGCCTGAGGAA 50569542 50569712 NA NA NA NA NA NA CAAGGTTTGATTTATGCCTTCTTCACCCTTCTTGTTGCCCTCAGGTAGCAGATGATGGCTATGGAGTTTCCTACATGATTGCAGGCGAGAACACGATCTTCTTCCACATCTCCAGCAAGTTCTCAAGCTCAGAGACGGTGAGTCTCCTGCCACAGCTCAGGCCTGAGGAA CAAGGTTTGATTTATGCCTTCTTCACCCTTCTTGTTGCCCTCAGGTAGCAGATGATGGCTATGGAGTTTCCTACATGATTGCAGGCGAGAACACGATCTTCTTCCACATCTCCAGCAAGTTCTCAAGCTCAGAGACGGTGAGTCTCCTGCCACAGCTCAGGCCTGAGGAA natural NA NA NA NA NA 851 1451 0.9974084 0.9264498 0.9619291 NA NA 0.9974084 0.9264498 NA NA 0 0 NA 0.9619291 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003551228 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00002314884_000 ENSE00002314884 000 12 109923757 109923926 + 60 60 50 NA NA NA NA NA TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 NA NA NA NA NA NA TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC natural NA NA NA NA NA 1011 977 0.868459 0.9923171 0.9303881 NA NA 0.868459 0.9923171 NA NA 0 0 NA 0.9303881 NA 0 NA FALSE NA NA NA NA NA NA UBE3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE3B NA NA NA ENSG00000151148 ENSE00002314884 NA NA NA NA NA NA NA 0.009387706 FALSE NA ENSE00002314884_001 ENSE00002314884 001 12 109923757 109923926 + 60 60 50 G A 109923803 3143 47 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTATGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 109485997 109485998 109485998 upstr_intron -14 -0.2166667 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTATGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC mutant NA NA NA NA NA 58 651 1 0.9280309 0.9640154 NA NA 0.868459 0.9923171 NA NA 0.131541 -0.06428625 NA 0.9303881 NA 0.03362738 NA FALSE NA 0.003 -0.887 rs191523717 intron_variant MODIFIER UBE3B HGNC 13478 ENST00000340074 4/8 rs191523717 1 A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 A:0 A:0.0006 TGT G,A 0.000178 12:109485998 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00002314884 intron_variant -0.118895 0.19539 0.06721 0.156188 0.537175 0.0466709 0.009387706 FALSE 0.000163536 ENSE00002314884_003 ENSE00002314884 003 12 109923757 109923926 + 60 60 50 C T 109923835 3145 79 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTTGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 109486029 109486030 109486030 exon 19 0.3166667 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTTGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC mutant NA NA NA NA NA 566 90 0.9711992 1 0.9855996 NA NA 0.868459 0.9923171 NA NA 0.1027402 0.007682894 NA 0.9303881 NA 0.05521155 NA FALSE NA 1 3.366 . missense_variant MODERATE UBE3B HGNC 13478 ENST00000340074 5/9 1 deleterious(0) probably_damaging(0.995) NA TCG C,T 8.968e-06 12:109486030 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00002314884 missense_variant 7.647515 0.98535 0.98184 0.706548 0.9992984 0 0.009387706 FALSE NA ENSE00002314884_005 ENSE00002314884 005 12 109923757 109923926 + 60 60 50 T C 109923854 3147 98 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCACGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 109486048 109486049 109486049 exon -23 0.6333333 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCACGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC mutant NA NA NA NA NA 641 36 0.9929412 1 0.9964706 NA NA 0.868459 0.9923171 NA NA 0.1244822 0.007682894 NA 0.9303881 NA 0.06608253 NA FALSE NA 1 7.274 . missense_variant MODERATE UBE3B HGNC 13478 ENST00000340074 5/9 1 deleterious(0) probably_damaging(0.945) NA ATG T,C 9.678e-05 12:109486049 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00002314884 missense_variant 2.316952 0.99178 0.99669 0.706548 0.9941172 0 0.009387706 FALSE 1.26021e-05 ENSE00002314884_006 ENSE00002314884 006 12 109923757 109923926 + 60 60 50 G A 109923870 3148 114 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAACCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 109486064 109486065 109486065 exon -7 0.9 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAACCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC mutant NA NA NA NA NA 73 72 1 0.9904773 0.9952387 NA NA 0.868459 0.9923171 NA NA 0.131541 -0.001839774 NA 0.9303881 NA 0.06485061 NA FALSE NA 0.357 -0.217 . synonymous_variant LOW UBE3B HGNC 13478 ENST00000340074 5/9 rs369331998 1 NA A:0 A:0.0001 AGC G,A 8.73e-06 12:109486065 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00002314884 synonymous_variant 0.424683 0.92752 0.14896 0.706548 0.448647 0 0.009387706 FALSE 1.87156e-05 ENSE00002314884_008 ENSE00002314884 008 12 109923757 109923926 + 60 60 50 C T 109923886 3150 130 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGATGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 109486080 109486081 109486081 downstr_intron 10 1.204082 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGATGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC mutant NA NA NA NA NA 722 32 0.999943 1 0.9999715 NA NA 0.868459 0.9923171 NA NA 0.131484 0.007682894 NA 0.9303881 NA 0.06958344 NA FALSE NA 0 -1.292 . intron_variant MODIFIER UBE3B HGNC 13478 ENST00000340074 5/8 1 NA ACG C,T 2.619e-05 12:109486081 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00002314884 intron_variant -0.484083 0.04956 0.00628 0.062308 0.5246972 0.0878202 0.009387706 FALSE NA ENSE00002314884_009 ENSE00002314884 009 12 109923757 109923926 + 60 60 50 G A 109923887 3151 131 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACAGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 109486081 109486082 109486082 downstr_intron 11 1.22449 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACAGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC mutant NA NA NA NA NA 17 437 1 1 1 NA NA 0.868459 0.9923171 NA NA 0.131541 0.007682894 NA 0.9303881 NA 0.06961195 NA FALSE NA 0 -4.278 . intron_variant MODIFIER UBE3B HGNC 13478 ENST00000340074 5/8 rs565295701 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 2.619e-05 12:109486082 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00002314884 intron_variant -0.055628 0.14966 0.01075 0.062308 0.6161236 0.0878202 0.009387706 FALSE NA ENSE00002314884_010 ENSE00002314884 010 12 109923757 109923926 + 60 60 50 C T 109923893 3152 137 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCTGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 109486087 109486088 109486088 downstr_intron 17 1.346939 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCTGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC mutant NA NA NA NA NA 249 83 1 1 1 NA NA 0.868459 0.9923171 NA NA 0.131541 0.007682894 NA 0.9303881 NA 0.06961195 NA FALSE NA 0 -0.909 NA NA NA UBE3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:109486088 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00002314884 intron_variant 0.044202 0.10942 0.00334 0.062308 0.5304654 0.0474115 0.009387706 FALSE 1.2492e-05 ENSE00002314884_012 ENSE00002314884 012 12 109923757 109923926 + 60 60 50 C T 109923903 3154 147 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTTCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 109486097 109486098 109486098 downstr_intron 27 1.55102 TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTTCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC mutant NA NA NA NA NA 311 681 0.9974583 0.9845971 0.9910277 NA NA 0.868459 0.9923171 NA NA 0.1289993 -0.007719959 NA 0.9303881 NA 0.06063969 NA FALSE NA 0.001 0.239 . intron_variant MODIFIER UBE3B HGNC 13478 ENST00000340074 5/8 1 NA TCC C,T 8.781e-06 12:109486098 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00002314884 intron_variant 0.893067 0.17398 0.0207 0.062308 0.7770827 0.0473384 0.009387706 FALSE NA ENSE00002314884_BRK ENSE00002314884 BRK 12 109923757 109923926 + 60 60 50 A,G; T,T NA NA NA TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCTTAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGCCAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC 109485951 109486121 NA NA NA NA NA NA TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCTTAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGCCAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC TTTGTTTTCACTTTTTGATGGATTGTGGGAATGTATAACCCCCAGTGTGTCTCTTTGCAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAGGTAAGTGGACGGGAGCCGCAGTGTCTCCCACAAGCTCTTAAGGGCCAACC control NA NA NA NA NA 167 570 0 0 0 NA NA 0.868459 0.9923171 NA NA -0.868459 -0.9923171 NA 0.9303881 NA -0.9303881 NA TRUE NA NA NA NA NA NA UBE3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE3B NA NA NA ENSG00000151148 ENSE00002314884 NA NA NA NA NA NA NA 0.009387706 FALSE NA ENSE00002315097_000 ENSE00002315097 000 6 90397765 90397934 - 32 96 42 NA NA NA NA NA ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 NA NA NA NA NA NA ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT natural 28 21 0.9667425 0.9953835 0.981063 5911 5400 0.9840593 0.9265028 0.955281 0.9667425 0.9953835 0.9840593 0.9265028 0 0 0 0 0.981063 0.955281 0 0 0 FALSE FALSE NA NA NA NA NA MDN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDN1 NA NA NA ENSG00000112159 ENSE00002315097 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002315097_001 ENSE00002315097 001 6 90397765 90397934 - 32 96 42 G A 90397780 2029 155 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTTTTCCTCATTTTAGTT 89688045 89688215 89688060 89688061 89688061 downstr_intron 17 1.548387 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTTTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 674 29 0.9949402 1 0.9974701 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01088095 0.07349721 0.981063 0.955281 NA 0.04218908 NA FALSE NA 0 -0.005 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 67/101 rs376587340 1 NA A:0 A:0.0005 AGA G,A 0.00014 6:89688061 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 intron_variant 0.647631 0.18447 0.01688 0.156188 0.5913832 0.0814239 1 TRUE 0.000170739 ENSE00002315097_002 ENSE00002315097 002 6 90397765 90397934 - 32 96 42 G C 90397782 2030 153 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTGTCTTCCTCATTTTAGTT 89688045 89688215 89688062 89688063 89688063 downstr_intron 15 1.483871 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTGTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 186 126 0.9991751 1 0.9995876 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01511585 0.07349721 0.981063 0.955281 NA 0.04430653 NA FALSE NA 0 0.265 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 67/101 1 NA AGA G,C 4.118e-05 6:89688063 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 intron_variant 0.210722 0.21498 0.23224 0.156188 0.7270611 0.0807266 1 TRUE 3.65827e-05 ENSE00002315097_003 ENSE00002315097 003 6 90397765 90397934 - 32 96 42 A G 90397783 2031 152 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCCCTCTTCCTCATTTTAGTT 89688045 89688215 89688063 89688064 89688064 downstr_intron 14 1.451613 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCCCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 123 481 1 0.9939188 0.9969594 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01594074 0.06741598 0.981063 0.955281 NA 0.04167836 NA FALSE NA 0 -0.074 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 67/101 1 NA GAG A,G 8.236e-06 6:89688064 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 intron_variant 0.632385 0.20977 0.09527 0.156188 0.750184 0.0456277 1 TRUE 8.13068e-06 ENSE00002315097_004 ENSE00002315097 004 6 90397765 90397934 - 32 96 42 T C 90397821 2032 114 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTGGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688101 89688102 89688102 exon -25 0.75 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTGGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 916 116 0.9894508 1 0.9947254 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.005391549 0.07349721 0.981063 0.955281 NA 0.03944438 NA FALSE NA 0.995 0.074 . synonymous_variant LOW MDN1 HGNC 18302 ENST00000369393 67/102 rs200222069 1 NA C:0 C:0.0001 CTA T,C 8.236e-06 6:89688102 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 synonymous_variant 0.817549 0.97728 0.81755 0.722319 0.8646483 0 1 TRUE 1.21829e-05 ENSE00002315097_006 ENSE00002315097 006 6 90397765 90397934 - 32 96 42 G C 90397832 2034 103 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCGTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688112 89688113 89688113 exon -36 0.6354167 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCGTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 266 1027 1 0.9999629 0.9999815 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01594074 0.07346015 0.981063 0.955281 NA 0.04470044 NA FALSE NA 1 2.903 . missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 67/102 1 possibly_damaging(0.77) NA AGG G,C 8.236e-06 6:89688113 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 missense_variant 4.244463 0.98784 0.98654 0.722319 0.992048 0 1 TRUE 4.06105e-06 ENSE00002315097_007 ENSE00002315097 007 6 90397765 90397934 - 32 96 42 G A 90397842 2035 93 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATTTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688122 89688123 89688123 exon -46 0.53125 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATTTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 352 872 0.9950188 0.9992105 0.9971147 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01095958 0.07270775 0.981063 0.955281 NA 0.04183366 NA FALSE NA 0.999 0.65 . synonymous_variant LOW MDN1 HGNC 18302 ENST00000369393 67/102 1 NA AGA G,A 2.471e-05 6:89688123 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 synonymous_variant 2.063201 0.97091 0.91511 0.722319 0.752886 0 1 TRUE 1.62442e-05 ENSE00002315097_008 ENSE00002315097 008 6 90397765 90397934 - 32 96 42 G C 90397852 2036 83 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTGCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688132 89688133 89688133 exon 41 0.4270833 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTGCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 519 262 0.9988045 1 0.9994022 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01474523 0.07349721 0.981063 0.955281 NA 0.04412122 NA FALSE NA 1 5.625 . missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 67/102 1 probably_damaging(0.948) NA GGA G,C 8.236e-06 6:89688133 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 missense_variant 6.250224 0.99313 0.9903 0.722319 0.9800186 0 1 TRUE 8.12203e-06 ENSE00002315097_009 ENSE00002315097 009 6 90397765 90397934 - 32 96 42 A G 90397853 2037 82 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTCCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688133 89688134 89688134 exon 40 0.4166667 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTCCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 20 31 1 0.9987628 0.9993814 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01594074 0.07226004 0.981063 0.955281 NA 0.04410039 NA FALSE NA 1 5.856 . missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 67/102 1 possibly_damaging(0.899) NA GAA A,G 1.647e-05 6:89688134 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 missense_variant 6.489133 0.98713 0.98043 0.722319 0.9968235 0 1 TRUE 8.12209e-06 ENSE00002315097_011 ENSE00002315097 011 6 90397765 90397934 - 32 96 42 C T 90397867 2039 68 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCATAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688147 89688148 89688148 exon 26 0.2708333 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCATAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 525 110 0.9982626 0.9857638 0.9920132 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01420334 0.05926106 0.981063 0.955281 NA 0.0367322 NA FALSE NA 0.989 0.653 . missense_variant MODERATE MDN1 HGNC 18302 ENST00000369393 67/102 rs573284544 1 possibly_damaging(0.563) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACG C,T 8.236e-06 6:89688148 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 missense_variant 4.980048 0.74223 0.77207 0.722319 0.9950194 0 1 TRUE 1.21837e-05 ENSE00002315097_012 ENSE00002315097 012 6 90397765 90397934 - 32 96 42 T A 90397872 2040 63 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGTATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688152 89688153 89688153 exon 21 0.21875 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGTATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 176 179 1 1 1 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01594074 0.07349721 0.981063 0.955281 NA 0.04471898 NA FALSE NA 1 0.423 NA NA NA MDN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:89688153 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 missense_variant 6.061393 0.97316 0.95283 0.722319 0.9868424 0 1 TRUE 4.06147e-06 ENSE00002315097_016 ENSE00002315097 016 6 90397765 90397934 - 32 96 42 A T 90397891 2044 44 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCACCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688171 89688172 89688172 exon 2 0.02083333 ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCACCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 499 503 0.9995041 0.9969936 0.9982489 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01544486 0.07049082 0.981063 0.955281 NA 0.04296784 NA FALSE NA 1 7.487 . missense_variant&splice_region_variant MODERATE MDN1 HGNC 18302 ENST00000369393 67/102 1 probably_damaging(0.935) NA GAG A,T 8.236e-06 6:89688172 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 missense_variant 5.820401 0.99444 0.99454 0.722319 0.9430281 0 1 TRUE 4.06204e-06 ENSE00002315097_017 ENSE00002315097 017 6 90397765 90397934 - 32 96 42 A G 90397900 2045 35 ACTGGTATTCCTACTGAGATACCCAAATCTTTATCTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688180 89688181 89688181 upstr_intron -8 -0.1666667 ACTGGTATTCCTACTGAGATACCCAAATCTTTATCTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 426 1137 0.9972633 0.8992075 0.9482354 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.013204 -0.02729532 0.981063 0.955281 NA -0.007045656 NA FALSE NA 0 1.827 . splice_region_variant&intron_variant LOW MDN1 HGNC 18302 ENST00000369393 66/101 1 NA AAA A,G 8.236e-06 6:89688181 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 splice_region_variant 0.035163 0.23592 0.07775 0.099367 0.5583646 0.163336 1 TRUE 4.06246e-06 ENSE00002315097_019 ENSE00002315097 019 6 90397765 90397934 - 32 96 42 T A 90397910 2047 25 ACTGGTATTCCTACTGAGATACCCTAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688190 89688191 89688191 upstr_intron -18 -0.4047619 ACTGGTATTCCTACTGAGATACCCTAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 119 452 1 0.9993236 0.9996618 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01594074 0.07282078 0.981063 0.955281 NA 0.04438076 NA FALSE NA 0 0.271 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 66/101 1 NA TTG T,A 8.236e-06 6:89688191 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 intron_variant 0.018568 0.25086 0.34195 0.099367 0.5029493 0.046323 1 TRUE 4.06382e-06 ENSE00002315097_020 ENSE00002315097 020 6 90397765 90397934 - 32 96 42 C T 90397917 2048 18 ACTGGTATTCCTACTGAAATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688197 89688198 89688198 upstr_intron -25 -0.5714286 ACTGGTATTCCTACTGAAATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 1218 277 0.9977484 0.9994286 0.9985885 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01368917 0.07292584 0.981063 0.955281 NA 0.0433075 NA FALSE NA 0 -0.806 rs76643537 intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 66/101 rs76643537 1 T:0.0010 T:0.0038 T:0 NA T:0 T:0 T:0 T:0.005 T:0 TCT C,T 0.0004942 6:89688198 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 intron_variant 0.191444 0.18643 0.08375 0.099367 0.3082588 0.0831391 1 TRUE 0.000390352 ENSE00002315097_021 ENSE00002315097 021 6 90397765 90397934 - 32 96 42 T C 90397922 2049 13 ACTGGTATTCCTGCTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT 89688045 89688215 89688202 89688203 89688203 upstr_intron -30 -0.6904762 ACTGGTATTCCTGCTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT ACTGGTATTCCTACTGAGATACCCAAATCTTTATTTCTGCAGCTCCTGGTTGTAATGGACAGAATTCGTAGTTTCCCACTTTCCAGTCCCATCTCAAAGTTCCTGAATGGCTTAGAGATCCTTCTGGCAAAGGCACAGGTGAGCTAATACCTCTCTTCCTCATTTTAGTT mutant NA NA NA NA NA 357 44 0.9942896 1 0.9971448 0.9667425 0.9953835 0.9840593 0.9265028 NA NA 0.01023033 0.07349721 0.981063 0.955281 NA 0.04186377 NA FALSE NA 0 -2.239 . intron_variant MODIFIER MDN1 HGNC 18302 ENST00000369393 66/101 rs199604939 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GTA T,C 8.236e-06 6:89688203 MDN1 HGNC Symbol protein_coding 177224 ENSG00000112159 ENSE00002315097 intron_variant -0.177028 0.08886 0.00552 0.099367 0.2806052 0.0835171 1 TRUE 1.22022e-05 ENSE00002316035_000 ENSE00002316035 000 19 34818634 34818803 + 42 96 32 NA NA NA NA NA TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 NA NA NA NA NA NA TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC natural 393 553 0.8693048 0.8122202 0.8407625 2362 896 0.829779 0.7724703 0.8011246 0.8693048 0.8122202 0.829779 0.7724703 0 0 0 0 0.8407625 0.8011246 0 0 0 FALSE FALSE NA NA NA NA NA KIAA0355 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIAA0355 NA NA NA ENSG00000166398 ENSE00002536110 NA NA NA NA NA NA NA 0.8771252 FALSE NA ENSE00002316035_001 ENSE00002316035 001 19 34818634 34818803 + 42 96 32 G A 34818644 2036 11 TTTGCTTTACAATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327738 34327739 34327739 upstr_intron -32 -0.7380952 TTTGCTTTACAATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 622 1318 0.7683307 0.8312527 0.7997917 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.06144829 0.05878237 0.8407625 0.8011246 NA -0.001332959 NA FALSE NA 0 -0.088 . intron_variant MODIFIER KIAA0355 HGNC 29016 ENST00000299505 4/13 1 NA CGA G,A 4.119e-05 19:34327739 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 intron_variant -0.452056 0.17028 0.00308 0.099367 0.3115572 0.118395 0.8771252 FALSE 2.5092e-05 ENSE00002316035_002 ENSE00002316035 002 19 34818634 34818803 + 42 96 32 T C 34818646 2037 13 TTTGCTTTACGACCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327740 34327741 34327741 upstr_intron -30 -0.6904762 TTTGCTTTACGACCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 770 361 0.6990525 0.7839623 0.7415074 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.1307265 0.01149205 0.8407625 0.8011246 NA -0.05961724 NA FALSE NA 0.987 4.606 . intron_variant MODIFIER KIAA0355 HGNC 29016 ENST00000299505 4/13 rs371644487 1 NA C:0 C:0.0001 ATC T,C 7.414e-05 19:34327741 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 intron_variant 0.230194 0.84068 0.93338 0.099367 0.7082353 0.914676 0.8771252 FALSE 8.30786e-05 ENSE00002316035_003 ENSE00002316035 003 19 34818634 34818803 + 42 96 32 G C 34818650 2038 17 TTTGCTTTACGATCTTCATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327744 34327745 34327745 upstr_intron -26 -0.5952381 TTTGCTTTACGATCTTCATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 10 193 0.95 0.9546591 0.9523296 0.8693048 0.8122202 0.829779 0.7724703 NA NA 0.120221 0.1821888 0.8407625 0.8011246 NA 0.1512049 NA FALSE NA 0.958 0.074 . intron_variant MODIFIER KIAA0355 HGNC 29016 ENST00000299505 4/13 1 NA TGA G,C 8.238e-06 19:34327745 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 intron_variant -0.250725 0.59212 0.63826 0.156188 0.522114 0.172779 0.8771252 FALSE 4.16029e-06 ENSE00002316035_004 ENSE00002316035 004 19 34818634 34818803 + 42 96 32 G A 34818684 2039 51 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAAATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327778 34327779 34327779 exon 9 0.09375 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAAATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 191 44 0.8 0.8 0.8 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.02977898 0.02752971 0.8407625 0.8011246 NA -0.001124638 NA FALSE NA 1 1.949 . synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 rs569532752 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGA G,A 1.647e-05 19:34327779 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant 0.876759 0.92082 0.32638 0.706548 0.5138654 0 0.8771252 FALSE 2.43748e-05 ENSE00002316035_005 ENSE00002316035 005 19 34818634 34818803 + 42 96 32 C G 34818689 2040 56 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGGTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327783 34327784 34327784 exon 14 0.1458333 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGGTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 295 1670 0.01574424 0.02924 0.02249212 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.8140347 -0.7432303 0.8407625 0.8011246 NA -0.7786325 NA TRUE NA 1 7.429 . missense_variant MODERATE KIAA0355 HGNC 29016 ENST00000299505 5/14 1 tolerated(0.09) probably_damaging(0.971) NA GCT C,G 8.236e-06 19:34327784 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 missense_variant 5.101333 0.98096 0.93595 0.706548 0.9977573 0 0.8771252 FALSE 4.06138e-06 ENSE00002316035_006 ENSE00002316035 006 19 34818634 34818803 + 42 96 32 C T 34818708 2041 75 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACATTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327802 34327803 34327803 exon 33 0.34375 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACATTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 1804 581 0.7522446 0.8229431 0.7875939 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.07753439 0.05047282 0.8407625 0.8011246 NA -0.01353078 NA FALSE NA 1 2.189 rs60232252 synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 rs60232252 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0009 T:0 ACT C,T 4.118e-05 19:34327803 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant 0.982818 0.96312 0.47146 0.706548 0.8710228 0 0.8771252 FALSE 6.49715e-05 ENSE00002316035_007 ENSE00002316035 007 19 34818634 34818803 + 42 96 32 T C 34818711 2042 78 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGCGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327805 34327806 34327806 exon 36 0.375 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGCGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 650 1054 0.9631016 0.9576537 0.9603776 0.8693048 0.8122202 0.829779 0.7724703 NA NA 0.1333226 0.1851834 0.8407625 0.8011246 NA 0.159253 NA FALSE NA 1 4.751 . synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 1 NA GTG T,C 8.236e-06 19:34327806 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant -0.078255 0.97872 0.69172 0.706548 0.8861141 0 0.8771252 FALSE 4.06075e-06 ENSE00002316035_008 ENSE00002316035 008 19 34818634 34818803 + 42 96 32 A G 34818720 2043 87 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCGATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327814 34327815 34327815 exon 45 0.46875 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCGATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 973 669 0.9895572 0.9895304 0.9895438 0.8693048 0.8122202 0.829779 0.7724703 NA NA 0.1597782 0.2170601 0.8407625 0.8011246 NA 0.1884192 NA FALSE NA 0.992 0.423 . synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 rs201554641 1 G:0.0030 G:0 G:0 NA G:0 G:0 G:0.0153 CAA A,G 0.002191 19:34327815 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant 0.605722 0.95026 0.3991 0.706548 0.8228513 0 0.8771252 FALSE 0.00198567 ENSE00002316035_009 ENSE00002316035 009 19 34818634 34818803 + 42 96 32 C T 34818729 2044 96 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCTGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327823 34327824 34327824 exon -43 0.5625 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCTGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 370 866 0.8513692 0.8 0.8256846 0.8693048 0.8122202 0.829779 0.7724703 NA NA 0.02159017 0.02752971 0.8407625 0.8011246 NA 0.02455994 NA FALSE NA 0.993 0.215 . synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 rs200928748 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 2.471e-05 19:34327824 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant 2.008893 0.92603 0.12739 0.706548 0.8071115 0 0.8771252 FALSE 2.03034e-05 ENSE00002316035_010 ENSE00002316035 010 19 34818634 34818803 + 42 96 32 G A 34818730 2045 97 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCAGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327824 34327825 34327825 exon -42 0.5729167 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCAGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 220 663 0.7910993 0.6614622 0.7262807 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.03867972 -0.1110081 0.8407625 0.8011246 NA -0.07484391 NA FALSE NA 1 9.402 . missense_variant MODERATE KIAA0355 HGNC 29016 ENST00000299505 5/14 1 deleterious(0.05) probably_damaging(0.994) NA CGG G,A 4.118e-05 19:34327825 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 missense_variant 6.896914 0.98366 0.87034 0.706548 0.9988887 0 0.8771252 FALSE 5.68496e-05 ENSE00002316035_012 ENSE00002316035 012 19 34818634 34818803 + 42 96 32 C A 34818732 2047 99 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGATTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327826 34327827 34327827 exon -40 0.59375 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGATTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 304 492 0.01949903 0 0.009749514 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.81028 -0.7724703 0.8407625 0.8011246 NA -0.7913751 NA TRUE NA 1 1.165 . synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 rs368749949 1 NA A:0 A:0.0001 GCT C,A 1.647e-05 19:34327827 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant 1.784206 0.95209 0.44454 0.706548 0.8174619 0 0.8771252 FALSE 1.2182e-05 ENSE00002316035_013 ENSE00002316035 013 19 34818634 34818803 + 42 96 32 C T 34818738 2048 105 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCATCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327832 34327833 34327833 exon -34 0.65625 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCATCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 115 1035 0.8153043 0.801951 0.8086276 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.01447472 0.02948067 0.8407625 0.8011246 NA 0.007502972 NA FALSE NA 1 2.999 rs144093159 synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 rs144093159 1 NA T:0.0002 T:0 ACC C,T 8.236e-06 19:34327833 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant 1.266053 0.96642 0.47021 0.706548 0.861271 0 0.8771252 FALSE NA ENSE00002316035_014 ENSE00002316035 014 19 34818634 34818803 + 42 96 32 G A 34818741 2049 108 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTAAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327835 34327836 34327836 exon -31 0.6875 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTAAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 408 196 0 0.09178943 0.04589472 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.829779 -0.6806809 0.8407625 0.8011246 NA -0.7552299 NA TRUE NA 1 0.855 . synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 1 NA TGA G,A 4.942e-05 19:34327836 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant 0.482382 0.94609 0.39964 0.706548 0.8310355 0 0.8771252 FALSE 2.43639e-05 ENSE00002316035_015 ENSE00002316035 015 19 34818634 34818803 + 42 96 32 A G 34818747 2050 114 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCGAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327841 34327842 34327842 exon -25 0.75 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCGAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 4353 514 0.9987333 0.9941084 0.9964208 0.8693048 0.8122202 0.829779 0.7724703 NA NA 0.1689543 0.2216381 0.8407625 0.8011246 NA 0.1952962 NA FALSE NA 1 2.95 . synonymous_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/14 1 NA CAA A,G 8.236e-06 19:34327842 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 synonymous_variant 0.253762 0.95982 0.50462 0.706548 0.8346944 0 0.8771252 FALSE 4.06062e-06 ENSE00002316035_016 ENSE00002316035 016 19 34818634 34818803 + 42 96 32 C T 34818752 2051 119 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGTGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327846 34327847 34327847 exon -20 0.8020833 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGTGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 424 803 0.02887213 0.03028651 0.02957932 0.8693048 0.8122202 0.829779 0.7724703 NA NA -0.8009069 -0.7421838 0.8407625 0.8011246 NA -0.7715453 NA TRUE NA 1 5.682 . missense_variant MODERATE KIAA0355 HGNC 29016 ENST00000299505 5/14 COSM994745 1 deleterious(0.01) probably_damaging(0.972) NA GCG C,T 3.295e-05 19:34327847 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 missense_variant 7.484069 0.98334 0.77212 0.706548 0.9992988 0 0.8771252 FALSE 2.03031e-05 ENSE00002316035_018 ENSE00002316035 018 19 34818634 34818803 + 42 96 32 C T 34818775 2053 142 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTATACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327869 34327870 34327870 downstr_intron 4 1.129032 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTATACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 668 647 0.9161187 0.9221003 0.9191095 0.8693048 0.8122202 0.829779 0.7724703 NA NA 0.08633975 0.14963 0.8407625 0.8011246 NA 0.1179849 NA FALSE NA 0 -2.015 . splice_region_variant&intron_variant LOW KIAA0355 HGNC 29016 ENST00000299505 5/13 1 NA ACA C,T 1.647e-05 19:34327870 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 splice_region_variant 0.190818 0.31486 0.01337 0.062308 0.7317653 0.275541 0.8771252 FALSE 4.06068e-06 ENSE00002316035_020 ENSE00002316035 020 19 34818634 34818803 + 42 96 32 C T 34818783 2055 150 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCTTTCCTAAAGCTCTGGGGACC 34327728 34327898 34327877 34327878 34327878 downstr_intron 12 1.387097 TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCTTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC mutant NA NA NA NA NA 2047 132 0.9068254 0.9476402 0.9272328 0.8693048 0.8122202 0.829779 0.7724703 NA NA 0.07704646 0.1751699 0.8407625 0.8011246 NA 0.1261082 NA FALSE NA 0 -1.042 . intron_variant MODIFIER KIAA0355 HGNC 29016 ENST00000299505 5/13 1 NA CCT C,T 1.647e-05 19:34327878 KIAA0355 HGNC Symbol protein_coding 101049 ENSG00000166398 ENSE00002536110 intron_variant -0.073258 0.23706 0.01121 0.062308 0.7300904 0.108476 0.8771252 FALSE 8.12156e-06 ENSE00002316035_BRK ENSE00002316035 BRK 19 34818634 34818803 + 42 96 32 A,G; T,T NA NA NA TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCTTGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGCCACACTTTTCCTTCCTAAAGCTCTGGGGACC 34327728 34327898 NA NA NA NA NA NA TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCTTGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGCCACACTTTTCCTTCCTAAAGCTCTGGGGACC TTTGCTTTACGATCTTGATTGTTAAAAATAATTTATTTCCAGGCATATAAGATAGCTCTGGAAAGCTTAGGACACTGTGAATATGCAATGAAAGCCGGCTTCCACCTGAATCCAAAGGCGATTGAAGCAAGTTTGCAGGTACACTTTTCCTTCCTAAAGCTCTGGGGACC control 117 108 0 0 0 198 112 0 0 0 0.8693048 0.8122202 0.829779 0.7724703 -0.8693048 -0.8122202 -0.829779 -0.7724703 0.8407625 0.8011246 -0.8407625 -0.8011246 0.03963791 TRUE TRUE NA NA NA NA NA KIAA0355 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIAA0355 NA NA NA ENSG00000166398 ENSE00002536110 NA NA NA NA NA NA NA 0.8771252 FALSE NA ENSE00002316430_000 ENSE00002316430 000 16 71418623 71418792 + 63 54 53 NA NA NA NA NA GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 NA NA NA NA NA NA ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC natural 1015 1723 0.8363802 0.8474222 0.8419012 3963 1247 0.888021 0.8691827 0.8786018 0.8363802 0.8474222 0.888021 0.8691827 0 0 0 0 0.8419012 0.8786018 0 0 0 FALSE FALSE NA NA NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002488272 NA NA NA NA NA NA NA 0.001238901 FALSE NA ENSE00002316430_001 ENSE00002316430 001 16 71418623 71418792 + 63 54 53 A C 71418637 2697 15 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGGGTGTGGGTGTGCGT 71384719 71384889 71384733 71384734 71384734 upstr_intron -49 -0.7619048 ACGCACACCCACACCCACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 92 145 0.85 0.85 0.85 324 456 0.9756078 0.9421059 0.9588568 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 0.08758683 0.07292316 0.8419012 0.8786018 0.008098802 0.080255 0.07215619 FALSE FALSE 0.001 -0.774 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 8/9 1 NA CAC A,C 8.236e-06 16:71384734 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant -0.18534 0.18562 0.02014 0.061011 0.5193267 0.0498819 0.001238901 FALSE 4.0784e-06 ENSE00002316430_002 ENSE00002316430 002 16 71418623 71418792 + 63 54 53 C A 71418648 2698 26 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCTCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384744 71384745 71384745 upstr_intron -38 -0.5873016 ACGCACACCCACACACACACCACTGAGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 163 124 0.85 0.85 0.85 1307 311 0.7967416 0.8 0.7983708 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 -0.09127938 -0.06918273 0.8419012 0.8786018 0.008098802 -0.08023105 0.08832986 FALSE FALSE 0.009 0.021 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71384745 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant -0.156348 0.18489 0.00864 0.061011 0.4988137 0.124759 0.001238901 FALSE NA ENSE00002316430_003 ENSE00002316430 003 16 71418623 71418792 + 63 54 53 C T 71418648 2699 26 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCACAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384744 71384745 71384745 upstr_intron -38 -0.5873016 ACGCACACCCACACACACACCACTGTGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 98 128 0.85 0.85 0.85 33 94 1 0.9819734 0.9909867 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 0.111979 0.1127906 0.8419012 0.8786018 0.008098802 0.1123848 0.104286 FALSE FALSE 0.009 0.021 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002488272 intron_variant -0.169348 0.17848 0.00789 0.061011 0.5543229 0.124759 0.001238901 FALSE NA ENSE00002316430_004 ENSE00002316430 004 16 71418623 71418792 + 63 54 53 G A 71418649 2700 27 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGTGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384745 71384746 71384746 upstr_intron -37 -0.5714286 ACGCACACCCACACACACACCACTGCACTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 313 32 0.9813986 0.945136 0.9632673 0.8363802 0.8474222 0.888021 0.8691827 NA NA 0.09337767 0.07595324 0.8419012 0.8786018 NA 0.08466545 NA FALSE NA 0.021 1.233 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 8/9 1 NA CGC G,A 3.295e-05 16:71384746 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant -0.353861 0.14677 0.0069 0.061011 0.7819768 0.0777385 0.001238901 FALSE 2.84801e-05 ENSE00002316430_006 ENSE00002316430 006 16 71418623 71418792 + 63 54 53 C T 71418656 2702 34 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAACAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384752 71384753 71384753 upstr_intron -30 -0.4603175 ACGCACACCCACACACACACCACTGCGCTTCTGTTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 36 40 0.9790758 0.952669 0.9658724 NA NA NA NA NA 0.8363802 0.8474222 0.888021 0.8691827 0.1426955 0.1052469 NA NA 0.8419012 0.8786018 0.1239712 NA NA NA FALSE 0 0.238 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 8/9 1 NA GCT C,T 8.236e-06 16:71384753 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant 1.662617 0.19945 0.00705 0.061011 0.8088588 0.225367 0.001238901 FALSE 1.21953e-05 ENSE00002316430_007 ENSE00002316430 007 16 71418623 71418792 + 63 54 53 T G 71418657 2703 35 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGACGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384753 71384754 71384754 upstr_intron -29 -0.4444444 ACGCACACCCACACACACACCACTGCGCTTCTGCGTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 102 88 0.85 0.85 0.85 60 45 0.8 0.8 0.8 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 -0.08802096 -0.06918273 0.8419012 0.8786018 0.008098802 -0.07860185 0.08670065 FALSE FALSE 0 0.349 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 8/9 1 NA CTT T,G 8.236e-06 16:71384754 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant 1.988366 0.25486 0.07819 0.061011 0.7185846 0.225367 0.001238901 FALSE 4.06481e-06 ENSE00002316430_008 ENSE00002316430 008 16 71418623 71418792 + 63 54 53 T G 71418658 2704 36 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGCAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384754 71384755 71384755 upstr_intron -28 -0.4285714 ACGCACACCCACACACACACCACTGCGCTTCTGCTGCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 419 441 0.9629946 0.9553701 0.9591824 0.8363802 0.8474222 0.888021 0.8691827 NA NA 0.07497367 0.0861874 0.8419012 0.8786018 NA 0.08058053 NA FALSE NA 0 0.623 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 8/9 1 NA TTC T,G 8.236e-06 16:71384755 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant 1.949663 0.14352 0.06053 0.061011 0.680859 0.225367 0.001238901 FALSE NA ENSE00002316430_010 ENSE00002316430 010 16 71418623 71418792 + 63 54 53 C A 71418671 2706 49 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGTTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384767 71384768 71384768 upstr_intron -15 -0.2222222 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATAACCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 103 121 0.85 0.85 0.85 NA NA NA NA NA 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 NA NA 0.8419012 0.8786018 0.008098802 NA NA NA FALSE 0 -0.674 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 8/9 1 NA ACC C,A 8.236e-06 16:71384768 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant 1.553603 0.25905 0.01383 0 0.749961 0.302335 0.001238901 FALSE 1.21873e-05 ENSE00002316430_012 ENSE00002316430 012 16 71418623 71418792 + 63 54 53 T G 71418681 2708 59 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCCAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384777 71384778 71384778 upstr_intron -5 -0.06349206 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTGGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 21 30 0 0 0 300 1407 0.03353908 0 0.01676954 0.8363802 0.8474222 0.888021 0.8691827 -0.8363802 -0.8474222 -0.8544819 -0.8691827 0.8419012 0.8786018 -0.8419012 -0.8618323 0.01993111 TRUE TRUE 0.648 1.41 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71384778 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 splice_region_variant 0.61946 0.21329 0.31675 0 0.4931907 0.335211 0.001238901 FALSE 4.06217e-06 ENSE00002316430_013 ENSE00002316430 013 16 71418623 71418792 + 63 54 53 T C 71418681 2709 59 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCGAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384777 71384778 71384778 upstr_intron -5 -0.06349206 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTCGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 49 1235 0 0.003582786 0.001791393 0.8363802 0.8474222 0.888021 0.8691827 NA NA -0.888021 -0.8655999 0.8419012 0.8786018 NA -0.8768105 NA TRUE NA 0.648 1.41 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002488272 splice_region_variant 0.401618 0.21566 0.31706 0 0.4693842 0.335211 0.001238901 FALSE 8.12433e-06 ENSE00002316430_014 ENSE00002316430 014 16 71418623 71418792 + 63 54 53 A G 71418684 2710 62 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCCGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384780 71384781 71384781 upstr_intron -2 -0.01587302 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCGGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 128 113 0 0.005765963 0.002882982 749 259 0 0.1530179 0.07650893 0.8363802 0.8474222 0.888021 0.8691827 -0.8363802 -0.8416562 -0.888021 -0.7161649 0.8419012 0.8786018 -0.8390182 -0.8020929 0.0369253 TRUE TRUE 1 7.172 . splice_acceptor_variant HIGH CALB2 HGNC 1435 ENST00000562305 8/9 1 NA HC CAG A,G 1.647e-05 16:71384781 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 splice_acceptor_variant 5.224535 0.98971 0.97905 0 0.9946639 0.974047 0.001238901 FALSE 8.12427e-06 ENSE00002316430_015 ENSE00002316430 015 16 71418623 71418792 + 63 54 53 G C 71418685 2711 63 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCGTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384781 71384782 71384782 upstr_intron -1 0 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCACGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 31 10 0 0 0 60 134 0 0.00273959 0.001369795 0.8363802 0.8474222 0.888021 0.8691827 -0.8363802 -0.8474222 -0.888021 -0.8664431 0.8419012 0.8786018 -0.8419012 -0.8772321 0.03533086 TRUE TRUE 1 7.58 . splice_acceptor_variant HIGH CALB2 HGNC 1435 ENST00000562305 8/9 1 NA HC AGG G,C 1.647e-05 16:71384782 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 splice_acceptor_variant 5.384045 0.99218 0.98206 0 0.9950966 0.985332 0.001238901 FALSE 8.12394e-06 ENSE00002316430_016 ENSE00002316430 016 16 71418623 71418792 + 63 54 53 G A 71418687 2712 65 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGTCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384783 71384784 71384784 exon 2 0.03703704 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGACATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 169 36 0.985249 0.9464893 0.9658692 0.8363802 0.8474222 0.888021 0.8691827 NA NA 0.09722802 0.07730659 0.8419012 0.8786018 NA 0.0872673 NA FALSE NA 1 5.856 . missense_variant&splice_region_variant MODERATE CALB2 HGNC 1435 ENST00000562305 9/10 1 tolerated(0.21) probably_damaging(0.929) NA GGC G,A 8.236e-06 16:71384784 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 missense_variant 4.294576 0.98612 0.95533 0.581397 0.9983736 0 0.001238901 FALSE 8.12387e-06 ENSE00002316430_017 ENSE00002316430 017 16 71418623 71418792 + 63 54 53 G A 71418691 2713 69 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTTATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384787 71384788 71384788 exon 6 0.1111111 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATAAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 129 198 0.8 0.8 0.8 0.8363802 0.8474222 0.888021 0.8691827 NA NA -0.08802096 -0.06918273 0.8419012 0.8786018 NA -0.07860185 NA FALSE NA 1 3.268 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 9/10 1 tolerated(0.38) benign(0.002) NA TGA G,A 8.236e-06 16:71384788 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 missense_variant 2.775473 0.98479 0.86428 0.581397 0.9690105 0 0.001238901 FALSE 4.06157e-06 ENSE00002316430_018 ENSE00002316430 018 16 71418623 71418792 + 63 54 53 G A 71418694 2714 72 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGTTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384790 71384791 71384791 exon 9 0.1666667 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAACTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 25 40 0.85 0.85 0.85 1537 110 0.9005293 0.8449243 0.8727268 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 0.01250835 -0.02425848 0.8419012 0.8786018 0.008098802 -0.005875064 0.01397387 FALSE FALSE 1 0.949 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 9/10 1 NA AGC G,A 8.236e-06 16:71384791 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 synonymous_variant 1.576619 0.96907 0.70619 0.581397 0.645827 0 0.001238901 FALSE 4.0618e-06 ENSE00002316430_019 ENSE00002316430 019 16 71418623 71418792 + 63 54 53 G A 71418697 2715 75 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTTAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384793 71384794 71384794 exon 12 0.2222222 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTAACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 170 732 0.8015327 0.8006905 0.8011116 0.8363802 0.8474222 0.888021 0.8691827 NA NA -0.08648823 -0.06849219 0.8419012 0.8786018 NA -0.07749021 NA FALSE NA 1 2.24 rs143688092 synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 9/10 rs143688092 1 NA A:0 A:0.0005 TGA G,A 7.413e-05 16:71384794 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 synonymous_variant 1.245579 0.98515 0.84094 0.581397 0.7114873 0 0.001238901 FALSE 8.12334e-05 ENSE00002316430_020 ENSE00002316430 020 16 71418623 71418792 + 63 54 53 A T 71418703 2716 81 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCAGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384799 71384800 71384800 exon 18 0.3333333 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCTGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 71 136 0.9691436 0.9582797 0.9637117 0.8363802 0.8474222 0.888021 0.8691827 NA NA 0.08112266 0.08909696 0.8419012 0.8786018 NA 0.08510981 NA FALSE NA 0.746 -0.153 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 9/10 1 NA CAG A,T 8.237e-06 16:71384800 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 synonymous_variant 0.064808 0.89461 0.28894 0.581397 0.6822849 0 0.001238901 FALSE 8.12275e-06 ENSE00002316430_021 ENSE00002316430 021 16 71418623 71418792 + 63 54 53 G C 71418716 2717 94 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGGGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384812 71384813 71384813 exon -24 0.5740741 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACCCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 91 86 0.85 0.85 0.85 92 108 0.8695106 0.9050825 0.8872966 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 -0.01851033 0.03589974 0.8419012 0.8786018 0.008098802 0.008694706 0.0005959037 FALSE FALSE 0.998 3.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71384813 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 missense_variant 5.91906 0.97786 0.88132 0.487112 0.997838 0 0.001238901 FALSE 4.06154e-06 ENSE00002316430_022 ENSE00002316430 022 16 71418623 71418792 + 63 54 53 G T 71418716 2718 94 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGAGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384812 71384813 71384813 exon -24 0.5740741 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACTCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 108 78 0.8189357 0.85 0.8344678 39 96 0.8 0.8060253 0.8030126 0.8363802 0.8474222 0.888021 0.8691827 -0.01744455 0.002577846 -0.08802096 -0.06315748 0.8419012 0.8786018 -0.007433353 -0.07558922 0.06815587 FALSE FALSE 0.998 3.338 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002488272 missense_variant 2.605005 0.97564 0.82154 0.487112 0.9899017 0 0.001238901 FALSE 4.06154e-06 ENSE00002316430_023 ENSE00002316430 023 16 71418623 71418792 + 63 54 53 C T 71418717 2719 95 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCACGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384813 71384814 71384814 exon -23 0.5925926 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGTGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 89 94 0.85 0.85 0.85 1148 12 0.9406649 0.9370555 0.9388602 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 0.05264389 0.06787273 0.8419012 0.8786018 0.008098802 0.06025831 0.05215951 FALSE FALSE 0.998 4.248 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71384814 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 missense_variant 5.298314 0.99081 0.95131 0.487112 0.9991624 0 0.001238901 FALSE 0.000544233 ENSE00002316430_024 ENSE00002316430 024 16 71418623 71418792 + 63 54 53 C A 71418717 2720 95 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCTCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384813 71384814 71384814 exon -23 0.5925926 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGAGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 47 37 0.85 0.85 0.85 53 635 0.9556171 0.9467826 0.9511999 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 0.06759612 0.07759991 0.8419012 0.8786018 0.008098802 0.07259801 0.06449921 FALSE FALSE 0.998 4.248 NA NA NA CALB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002488272 missense_variant 4.140902 0.99116 0.95204 0.487112 0.9934561 0 0.001238901 FALSE 4.06144e-06 ENSE00002316430_025 ENSE00002316430 025 16 71418623 71418792 + 63 54 53 G A 71418718 2721 96 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATTGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384814 71384815 71384815 exon -22 0.6111111 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCAATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 81 1299 0.7741763 0.6660897 0.720133 0.8363802 0.8474222 0.888021 0.8691827 NA NA -0.1138447 -0.203093 0.8419012 0.8786018 NA -0.1584689 NA FALSE NA 0.01 -1.269 . synonymous_variant LOW CALB2 HGNC 1435 ENST00000562305 9/10 COSM3511823 1 NA CGA G,A 2.471e-05 16:71384815 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 synonymous_variant 1.294833 0.34696 0.02856 0.487112 0.6823763 0 0.001238901 FALSE 1.62459e-05 ENSE00002316430_026 ENSE00002316430 026 16 71418623 71418792 + 63 54 53 G A 71418734 2722 112 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTTGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384830 71384831 71384831 exon -6 0.9074074 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACAACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 172 221 0.85 0.85 0.85 975 117 0.9455509 0.9601511 0.952851 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 0.05752995 0.09096832 0.8419012 0.8786018 0.008098802 0.07424914 0.06615033 FALSE FALSE 1 7.576 . missense_variant MODERATE CALB2 HGNC 1435 ENST00000562305 9/10 COSM558899 1 deleterious(0) benign(0) NA CGA G,A 8.236e-06 16:71384831 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 missense_variant 6.868299 0.99137 0.97722 0.487112 0.999298 0 0.001238901 FALSE 4.06197e-06 ENSE00002316430_027 ENSE00002316430 027 16 71418623 71418792 + 63 54 53 A G 71418743 2723 121 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCCTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384839 71384840 71384840 downstr_intron 4 1.076923 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAGGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 301 241 0.001273063 0.1010027 0.05113788 0.8363802 0.8474222 0.888021 0.8691827 NA NA -0.8867479 -0.76818 0.8419012 0.8786018 NA -0.827464 NA TRUE NA 0.998 2.035 . splice_region_variant&intron_variant LOW CALB2 HGNC 1435 ENST00000562305 9/9 1 NA AAG A,G 8.236e-06 16:71384840 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 splice_region_variant 0.497245 0.43875 0.52818 0 0.5041996 0.198998 0.001238901 FALSE 4.06187e-06 ENSE00002316430_028 ENSE00002316430 028 16 71418623 71418792 + 63 54 53 G T 71418748 2724 126 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCATCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384844 71384845 71384845 downstr_intron 9 1.173077 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGATGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant NA NA NA NA NA 472 296 0.9809616 0.9824433 0.9817024 0.8363802 0.8474222 0.888021 0.8691827 NA NA 0.09294061 0.1132605 0.8419012 0.8786018 NA 0.1031006 NA FALSE NA 0 -0.077 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 9/9 1 NA AGG G,T 8.236e-06 16:71384845 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant -0.13942 0.21033 0.09194 0 0.4861029 0.063837 0.001238901 FALSE 4.06217e-06 ENSE00002316430_029 ENSE00002316430 029 16 71418623 71418792 + 63 54 53 A C 71418751 2725 129 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACGCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384847 71384848 71384848 downstr_intron 12 1.230769 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGCGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 65 209 0.85 0.85 0.85 NA NA NA NA NA 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 NA NA 0.8419012 0.8786018 0.008098802 NA NA NA FALSE 0 -0.177 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 9/9 1 NA GAG A,C 8.236e-06 16:71384848 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant -0.096806 0.18915 0.02551 0 0.3027465 0.0555718 0.001238901 FALSE 4.06204e-06 ENSE00002316430_030 ENSE00002316430 030 16 71418623 71418792 + 63 54 53 T C 71418759 2726 137 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCGTGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384855 71384856 71384856 downstr_intron 20 1.384615 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCACGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 72 150 0.85 0.9065723 0.8782862 NA NA NA NA NA 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.05915015 NA NA 0.8419012 0.8786018 0.03638495 NA NA NA FALSE 0 -0.869 rs183111639 intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 9/9 rs183111639 1 C:0.0008 C:0 C:0 NA C:0.004 C:0 C:0 ATG T,C 0.0001565 16:71384856 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant -0.234268 0.13522 0.01432 0 0.3116705 0.0719266 0.001238901 FALSE 0.000134071 ENSE00002316430_031 ENSE00002316430 031 16 71418623 71418792 + 63 54 53 G A 71418760 2727 138 GGACGGGCTGATGGGCTTCTGATTTTCCCTGCTATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384856 71384857 71384857 downstr_intron 21 1.403846 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATAGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 194 175 0.85 0.85 0.85 46 1052 0.9513145 0.9559389 0.9536267 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 0.06329352 0.08675615 0.8419012 0.8786018 0.008098802 0.07502483 0.06692603 FALSE FALSE 0.002 0.505 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 9/9 1 NA TGG G,A 8.236e-06 16:71384857 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant 0.189773 0.16557 0.02152 0 0.4088202 0.0719266 0.001238901 FALSE NA ENSE00002316430_032 ENSE00002316430 032 16 71418623 71418792 + 63 54 53 G A 71418765 2728 143 GGACGGGCTGATGGGCTTCTGATTTTCTCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384861 71384862 71384862 downstr_intron 26 1.5 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGAGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 104 114 0.8286263 0.85 0.8393132 141 546 0.95 0.9434461 0.9467231 0.8363802 0.8474222 0.888021 0.8691827 -0.007753933 0.002577846 0.06197904 0.07426339 0.8419012 0.8786018 -0.002588044 0.06812122 0.07070926 FALSE FALSE 0.001 0.991 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 9/9 1 NA GGG G,A 4.942e-05 16:71384862 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant 0.342707 0.21593 0.07502 0 0.3773026 0.577186 0.001238901 FALSE 4.47107e-05 ENSE00002316430_033 ENSE00002316430 033 16 71418623 71418792 + 63 54 53 C G 71418772 2729 150 GGACGGGCTGATGGGCTTCTCATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384868 71384869 71384869 downstr_intron 33 1.634615 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATGAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 44 63 0.85 0.85 0.85 NA NA NA NA NA 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 NA NA 0.8419012 0.8786018 0.008098802 NA NA NA FALSE 0 -3.214 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 9/9 1 NA TCA C,G 8.236e-06 16:71384869 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant 0.248952 0.15439 0.01699 0 0.6436598 0.0555718 0.001238901 FALSE 4.06587e-06 ENSE00002316430_034 ENSE00002316430 034 16 71418623 71418792 + 63 54 53 A G 71418773 2730 151 GGACGGGCTGATGGGCTTCCGATTTTCCCTGCCATGCCAACTCCCTCTCTTACCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCCTGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 71384869 71384870 71384870 downstr_intron 34 1.653846 ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCGGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC mutant 38 32 0.85 0.85 0.85 343 591 0.9754619 0.9917365 0.9835992 0.8363802 0.8474222 0.888021 0.8691827 0.01361976 0.002577846 0.08744098 0.1225538 0.8419012 0.8786018 0.008098802 0.1049974 0.09689857 FALSE FALSE 0 -0.489 . intron_variant MODIFIER CALB2 HGNC 1435 ENST00000562305 9/9 1 NA CAG A,G 8.236e-06 16:71384870 CALB2 HGNC Symbol protein_coding 31725 ENSG00000172137 ENSE00002488272 intron_variant 0.309605 0.12699 0.01203 0 0.5782609 0.0555718 0.001238901 FALSE 4.06583e-06 ENSE00002316430_BRK ENSE00002316430 BRK 16 71418623 71418792 + 63 54 53 A,G; T,T NA NA NA GGACGGGCTGATGGGCTTCTGATTTTCCCTGCCATGCCAACTCCCTCTCTTGGCTTGTCGTAAAATGTGAAGATCGCGTTAAACTCCTCTGAGGTCAGCTTCATGCCAAGCAAGAACCAGGGTATTAAAGACAGAAGCAGAAGCGCAGTGGTGTGTGTGTGGGTGTGCGT 71384719 71384889 NA NA NA NA NA NA ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCTTGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGCCAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC ACGCACACCCACACACACACCACTGCGCTTCTGCTTCTGTCTTTAATACCCTGGTTCTTGCAGGGCATGAAGCTGACCTCAGAGGAGTTTAACGCGATCTTCACATTTTACGACAAGGTAAGAGAGGGAGTTGGCATGGCAGGGAAAATCAGAAGCCCATCAGCCCGTCC control 78 10 0.1724928 0 0.0862464 NA NA NA NA NA 0.8363802 0.8474222 0.888021 0.8691827 -0.6638874 -0.8474222 NA NA 0.8419012 0.8786018 -0.7556548 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALB2 NA NA NA ENSG00000172137 ENSE00002488272 NA NA NA NA NA NA NA 0.001238901 FALSE NA ENSE00002319168_000 ENSE00002319168 000 6 37417983 37418152 + 44 93 33 NA NA NA NA NA AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 NA NA NA NA NA NA AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT natural 263 452 0.7642005 0.8475433 0.8058719 4312 4020 0.9442549 0.9114309 0.9278429 0.7642005 0.8475433 0.9442549 0.9114309 0 0 0 0 0.8058719 0.9278429 0 0 0 FALSE FALSE NA NA NA NA NA CMTR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CMTR1 NA NA NA ENSG00000137200 ENSE00002319168 NA NA NA NA NA NA NA 0.9992949 TRUE NA ENSE00002319168_002 ENSE00002319168 002 6 37417983 37418152 + 44 93 33 T C 37418003 1198 21 AGGGTGTGTCATATCTGTCTCACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 37450226 37450227 37450227 upstr_intron -24 -0.5227273 AGGGTGTGTCATATCTGTCTCACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT mutant NA NA NA NA NA 26 12 0.8 0.8242146 0.8121073 0.7642005 0.8475433 0.9442549 0.9114309 NA NA -0.1442549 -0.08721631 0.8058719 0.9278429 NA -0.1157356 NA FALSE NA 0 0.087 . intron_variant MODIFIER CMTR1 HGNC 21077 ENST00000373451 4/23 1 NA TTA T,C 3.295e-05 6:37450227 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002319168 intron_variant 1.523308 0.89843 0.20014 0.295142 0.8063334 0.541581 0.9992949 TRUE 3.65925e-05 ENSE00002319168_003 ENSE00002319168 003 6 37417983 37418152 + 44 93 33 C T 37418012 1199 30 AGGGTGTGTCATATCTGTCTTACTAGCCTTTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 37450235 37450236 37450236 upstr_intron -15 -0.3181818 AGGGTGTGTCATATCTGTCTTACTAGCCTTTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT mutant NA NA NA NA NA 537 256 0.9597218 0.95 0.9548609 0.7642005 0.8475433 0.9442549 0.9114309 NA NA 0.01546694 0.03856909 0.8058719 0.9278429 NA 0.02701801 NA FALSE NA 0.005 -0.272 . intron_variant MODIFIER CMTR1 HGNC 21077 ENST00000373451 4/23 1 NA TCT C,T 8.236e-06 6:37450236 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002319168 intron_variant 1.678623 0.25548 0.10669 0.295142 0.7047785 0.165756 0.9992949 TRUE NA ENSE00002319168_006 ENSE00002319168 006 6 37417983 37418152 + 44 93 33 G A 37418047 1202 65 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTATCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 37450270 37450271 37450271 exon 21 0.2258065 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTATCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT mutant NA NA NA NA NA 187 389 0.8060223 0.8737379 0.8398801 0.7642005 0.8475433 0.9442549 0.9114309 NA NA -0.1382326 -0.03769297 0.8058719 0.9278429 NA -0.08796278 NA FALSE NA 1 1.132 . synonymous_variant LOW CMTR1 HGNC 21077 ENST00000373451 5/24 1 NA TGT G,A 8.236e-06 6:37450271 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002319168 synonymous_variant 1.173165 0.92793 0.88077 0.732398 0.6493668 0 0.9992949 TRUE 4.06078e-06 ENSE00002319168_007 ENSE00002319168 007 6 37417983 37418152 + 44 93 33 C A 37418085 1203 103 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACAATCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 37450308 37450309 37450309 exon -35 0.6344086 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACAATCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT mutant NA NA NA NA NA 165 28 0.7757459 0.8 0.787873 0.7642005 0.8475433 0.9442549 0.9114309 NA NA -0.168509 -0.1114309 0.8058719 0.9278429 NA -0.1399699 NA FALSE NA 1 7.292 . missense_variant MODERATE CMTR1 HGNC 21077 ENST00000373451 5/24 1 tolerated(0.48) benign(0.021) NA ACT C,A 1.647e-05 6:37450309 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002319168 missense_variant 2.749978 0.97987 0.98071 0.732398 0.9686112 0 0.9992949 TRUE 1.21829e-05 ENSE00002319168_008 ENSE00002319168 008 6 37417983 37418152 + 44 93 33 C T 37418098 1204 116 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGTGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 37450321 37450322 37450322 exon -22 0.7741935 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGTGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT mutant NA NA NA NA NA 248 521 0.007804313 0.01459247 0.01119839 0.7642005 0.8475433 0.9442549 0.9114309 NA NA -0.9364506 -0.8968384 0.8058719 0.9278429 NA -0.9166445 NA TRUE NA 0.678 -0.29 . synonymous_variant LOW CMTR1 HGNC 21077 ENST00000373451 5/24 rs377156702 1 NA T:0 T:0.0001 GCG C,T 4.942e-05 6:37450322 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002319168 synonymous_variant 2.438709 0.80624 0.51883 0.732398 0.676395 0 0.9992949 TRUE 0.000105598 ENSE00002319168_009 ENSE00002319168 009 6 37417983 37418152 + 44 93 33 T C 37418106 1205 124 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGACGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 37450329 37450330 37450330 exon -14 0.8602151 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGACGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT mutant NA NA NA NA NA 20 66 1 0.9205917 0.9602958 0.7642005 0.8475433 0.9442549 0.9114309 NA NA 0.05574511 0.009160769 0.8058719 0.9278429 NA 0.03245294 NA FALSE NA 1 7.499 . missense_variant MODERATE CMTR1 HGNC 21077 ENST00000373451 5/24 1 tolerated(0.1) benign(0.02) NA ATG T,C 8.236e-06 6:37450330 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002319168 missense_variant 3.970953 0.97408 0.97551 0.732398 0.9913846 0 0.9992949 TRUE 4.06085e-06 ENSE00002319168_011 ENSE00002319168 011 6 37417983 37418152 + 44 93 33 G A 37418113 1207 131 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTAGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 37450336 37450337 37450337 exon -7 0.9354839 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTAGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT mutant NA NA NA NA NA 882 473 0.8001827 0.8619711 0.8310769 0.7642005 0.8475433 0.9442549 0.9114309 NA NA -0.1440722 -0.04945985 0.8058719 0.9278429 NA -0.09676603 NA FALSE NA 0.993 0.176 rs144830363 synonymous_variant LOW CMTR1 HGNC 21077 ENST00000373451 5/24 rs144830363 1 A:0.0018 A:0 A:0 NA A:0 A:0.0089 A:0 A:0.0002 A:0.0013 TGG G,A 0.001878 6:37450337 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002319168 synonymous_variant 1.263769 0.9361 0.84853 0.732398 0.7764482 0 0.9992949 TRUE 0.00198593 ENSE00002319168_013 ENSE00002319168 013 6 37417983 37418152 + 44 93 33 G A 37418138 1209 156 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACATACCCTGACTTCTT 37450206 37450376 37450361 37450362 37450362 downstr_intron 19 1.59375 AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACATACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT mutant NA NA NA NA NA 515 58 0.9720653 0.8761553 0.9241103 0.7642005 0.8475433 0.9442549 0.9114309 NA NA 0.0278104 -0.03527566 0.8058719 0.9278429 NA -0.003732628 NA FALSE NA 0 -0.471 NA NA NA CMTR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:37450362 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002319168 intron_variant 0.207932 0.28946 0.05252 0.091178 0.6430279 0.0454141 0.9992949 TRUE 0.000162561 ENSE00002319168_BRK ENSE00002319168 BRK 6 37417983 37418152 + 44 93 33 A,G; T,T NA NA NA AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCTTCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGCCAGGCTTTCAGGAAAACGTACCCTGACTTCTT 37450206 37450376 NA NA NA NA NA NA AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCTTCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGCCAGGCTTTCAGGAAAACGTACCCTGACTTCTT AGGGTGTGTCATATCTGTCTTACTAGCCTCTCTTTTGTTTGCAGCCCAGTGCTTGTGAGCAGGTGTCATGGTTTCCAGAATGTACCACTGAAATTCCTGACACTCAGGAAATGAGCGATTGGATGGTGGTGGGAAAGGTAGGCTTTCAGGAAAACGTACCCTGACTTCTT control NA NA NA NA NA 195 1604 0 0 0 0.7642005 0.8475433 0.9442549 0.9114309 NA NA -0.9442549 -0.9114309 0.8058719 0.9278429 NA -0.9278429 NA TRUE NA NA NA NA NA NA CMTR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CMTR1 NA NA NA ENSG00000137200 ENSE00002319168 NA NA NA NA NA NA NA 0.9992949 TRUE NA ENSE00002320068_000 ENSE00002320068 000 16 90093997 90094166 + 47 87 36 NA NA NA NA NA CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 NA NA NA NA NA NA AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG natural NA NA NA NA NA 997 264 0.7638609 0.8459333 0.8048971 NA NA 0.7638609 0.8459333 NA NA 0 0 NA 0.8048971 NA 0 NA FALSE NA NA NA NA NA NA GAS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAS8 NA NA NA ENSG00000141013 ENSE00003606096 NA NA NA NA NA NA NA 8.035316e-08 FALSE NA ENSE00002320068_001 ENSE00002320068 001 16 90093997 90094166 + 47 87 36 T A 90094009 3585 13 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTATCAGCTTCCCCTT 90027588 90027758 90027600 90027601 90027601 upstr_intron -35 -0.7234043 AAGGGGAAGCTGATAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 306 268 0.9909984 0.9619747 0.9764866 NA NA 0.7638609 0.8459333 NA NA 0.2271375 0.1160414 NA 0.8048971 NA 0.1715894 NA FALSE NA 0 0.097 . intron_variant&NMD_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000565062 1/5 1 NA GTT T,A 8.236e-06 16:90027601 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 intron_variant 0.456598 0.13355 0.04943 0.062308 0.8554917 0.133727 8.035316e-08 FALSE 4.06171e-06 ENSE00002320068_002 ENSE00002320068 002 16 90093997 90094166 + 47 87 36 C G 90094016 3586 20 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGACACTCTAACAGCTTCCCCTT 90027588 90027758 90027607 90027608 90027608 upstr_intron -28 -0.5744681 AAGGGGAAGCTGTTAGAGTGTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 85 120 0.85 0.8799358 0.8649679 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0 -0.572 . intron_variant&NMD_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000565062 1/5 1 NA TCT C,G 8.236e-06 16:90027608 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 intron_variant -0.082543 0.14027 0.01964 0.062308 0.7448901 0.0803133 8.035316e-08 FALSE 4.06161e-06 ENSE00002320068_005 ENSE00002320068 005 16 90093997 90094166 + 47 87 36 C T 90094024 3589 28 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGATAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027615 90027616 90027616 upstr_intron -20 -0.4042553 AAGGGGAAGCTGTTAGAGTCTCTCTTATCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 59 79 0.85 0.85 0.85 308 1111 0.9276058 0.9168889 0.9222474 NA NA 0.7638609 0.8459333 NA NA 0.1637449 0.07095558 NA 0.8048971 NA 0.1173502 NA FALSE NA 0 -0.271 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:90027616 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 intron_variant 0.46509 0.20945 0.02972 0.062308 0.6695313 0.0803133 8.035316e-08 FALSE 2.03044e-05 ENSE00002320068_006 ENSE00002320068 006 16 90093997 90094166 + 47 87 36 C G 90094024 3590 28 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGCTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027615 90027616 90027616 upstr_intron -20 -0.4042553 AAGGGGAAGCTGTTAGAGTCTCTCTTAGCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 59 107 0 0 0 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0 -0.271 NA NA NA GAS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAS8 NA NA NA ENSG00000141013 ENSE00003606096 intron_variant 0.282174 0.26832 0.07881 0.062308 0.542047 0.0803133 8.035316e-08 FALSE 8.12176e-06 ENSE00002320068_007 ENSE00002320068 007 16 90093997 90094166 + 47 87 36 C A 90094027 3591 31 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATTGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027618 90027619 90027619 upstr_intron -17 -0.3404255 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCAATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 46 46 0.85 0.85 0.85 239 855 0.8493975 0.8002957 0.8248466 NA NA 0.7638609 0.8459333 NA NA 0.08553658 -0.04563762 NA 0.8048971 NA 0.01994948 NA FALSE NA 0 -1.314 . intron_variant&NMD_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000565062 1/5 1 NA CCA C,A 8.236e-06 16:90027619 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 intron_variant -0.042971 0.09859 0.00287 0.062308 0.518111 0.130834 8.035316e-08 FALSE 4.06081e-06 ENSE00002320068_008 ENSE00002320068 008 16 90093997 90094166 + 47 87 36 A G 90094028 3592 32 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAACGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027619 90027620 90027620 upstr_intron -16 -0.3191489 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCGTTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 201 21 0.8768315 0.8 0.8384157 NA NA 0.7638609 0.8459333 NA NA 0.1129705 -0.04593335 NA 0.8048971 NA 0.0335186 NA FALSE NA 0 -2.617 . intron_variant&NMD_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000565062 1/5 1 NA CAT A,G 2.471e-05 16:90027620 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 intron_variant 0.072212 0.11942 0.01103 0.062308 0.4353075 0.132051 8.035316e-08 FALSE 2.03041e-05 ENSE00002320068_010 ENSE00002320068 010 16 90093997 90094166 + 47 87 36 C T 90094048 3594 52 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCAGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027639 90027640 90027640 exon 5 0.05747126 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACTGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 33 55 0.8160495 0.85 0.8330248 687 55 0.8 0.8 0.8 NA NA 0.7638609 0.8459333 NA NA 0.03613908 -0.04593335 NA 0.8048971 NA -0.004897134 NA FALSE NA 0.993 3.402 . missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 COSM4063713 1 unknown(0) NA CCG C,T 4.942e-05 16:90027640 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 7.026103 0.9852 0.95856 0.695654 0.9501811 0 8.035316e-08 FALSE 4.46686e-05 ENSE00002320068_011 ENSE00002320068 011 16 90093997 90094166 + 47 87 36 A G 90094058 3595 62 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCCTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027649 90027650 90027650 exon 15 0.1724138 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAGGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 114 173 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0.827 0.078 . synonymous_variant&NMD_transcript_variant LOW GAS8 HGNC 4166 ENST00000565062 2/6 1 NA AAG A,G 8.236e-06 16:90027650 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 synonymous_variant 0.560285 0.97975 0.54939 0.695654 0.8234567 0 8.035316e-08 FALSE 4.06085e-06 ENSE00002320068_012 ENSE00002320068 012 16 90093997 90094166 + 47 87 36 A G 90094071 3596 75 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTCGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027662 90027663 90027663 exon 28 0.3218391 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCGAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 347 1341 0.8074045 0.9392971 0.8733508 NA NA 0.7638609 0.8459333 NA NA 0.0435436 0.09336372 NA 0.8048971 NA 0.06845366 NA FALSE NA 1 4.559 rs146066553 missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 rs146066553 1 unknown(0) G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0014 G:0 CAA A,G 0.0001894 16:90027663 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 2.50922 0.98668 0.97083 0.695654 0.9725879 0 8.035316e-08 FALSE 0.000166492 ENSE00002320068_013 ENSE00002320068 013 16 90093997 90094166 + 47 87 36 C G 90094075 3597 79 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGCCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027666 90027667 90027667 exon 32 0.3678161 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGGCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 43 44 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0.307 0.063 . missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 1 unknown(0) NA GCC C,G 8.236e-06 16:90027667 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 1.477249 0.96903 0.11796 0.695654 0.933607 0 8.035316e-08 FALSE 1.2182e-05 ENSE00002320068_015 ENSE00002320068 015 16 90093997 90094166 + 47 87 36 A G 90094078 3599 82 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTCTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027669 90027670 90027670 exon 35 0.4022989 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAGAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 626 363 0.9484057 0.9846175 0.9665116 NA NA 0.7638609 0.8459333 NA NA 0.1845448 0.1386841 NA 0.8048971 NA 0.1616145 NA FALSE NA 1 4.72 rs61734732 missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 rs61734732 1 unknown(0) G:0.0082 G:0.031 G:0 NA G:0 G:0 G:0 G:0.0348 G:0.0001 AAA A,G 0.003237 16:90027670 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 1.175658 0.98522 0.97998 0.695654 0.9168546 0 8.035316e-08 FALSE 0.00261512 ENSE00002320068_016 ENSE00002320068 016 16 90093997 90094166 + 47 87 36 C A 90094085 3600 89 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGTGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027676 90027677 90027677 exon 42 0.4827586 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACACCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 80 107 0.8431179 0.85 0.8465589 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0 -2.191 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:90027677 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 synonymous_variant 1.328832 0.13801 0.01392 0.695654 0.722218 0 8.035316e-08 FALSE 0.000958345 ENSE00002320068_017 ENSE00002320068 017 16 90093997 90094166 + 47 87 36 C T 90094085 3601 89 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGAGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027676 90027677 90027677 exon 42 0.4827586 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACTCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 56 87 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0 -2.191 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003606096 synonymous_variant 0.584381 0.15172 0.05143 0.695654 0.7301695 0 NA NA 8.12156e-06 ENSE00002320068_018 ENSE00002320068 018 16 90093997 90094166 + 47 87 36 C G 90094085 3602 89 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGCGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027676 90027677 90027677 exon 42 0.4827586 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACGCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 160 218 0.85 0.85 0.85 607 894 0.847531 0.836583 0.842057 NA NA 0.7638609 0.8459333 NA NA 0.08367006 -0.009350343 NA 0.8048971 NA 0.03715986 NA FALSE NA 0 -2.191 NA NA NA GAS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAS8 NA NA NA ENSG00000141013 ENSE00003606096 synonymous_variant 0.290007 0.14995 0.03643 0.695654 0.61496 0 8.035316e-08 FALSE 4.06078e-06 ENSE00002320068_019 ENSE00002320068 019 16 90093997 90094166 + 47 87 36 C T 90094087 3603 91 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCAGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027678 90027679 90027679 exon -44 0.5057471 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCTGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 17 55 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0.011 2.255 rs192874500 missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 rs192874500 1 unknown(0) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 CCG C,T 1.647e-05 16:90027679 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 1.733034 0.41105 0.40148 0.695654 0.7691335 0 8.035316e-08 FALSE 2.84255e-05 ENSE00002320068_021 ENSE00002320068 021 16 90093997 90094166 + 47 87 36 C G 90094094 3605 98 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCCACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027685 90027686 90027686 exon -37 0.5862069 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTGGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 60 20 0.85 0.6906645 0.7703323 228 647 0.8049359 0.8390847 0.8220103 NA NA 0.7638609 0.8459333 NA NA 0.04107496 -0.006848664 NA 0.8048971 NA 0.01711315 NA FALSE NA 0.001 -2.158 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:90027686 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 synonymous_variant 0.120208 0.0973 0.00394 0.695654 0.4841462 0 8.035316e-08 FALSE 2.84266e-05 ENSE00002320068_022 ENSE00002320068 022 16 90093997 90094166 + 47 87 36 C T 90094094 3606 98 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCAACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027685 90027686 90027686 exon -37 0.5862069 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTTGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 23 11 0.05596977 0 0.02798488 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0.001 -2.158 NA NA NA GAS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAS8 NA NA NA ENSG00000141013 ENSE00003606096 synonymous_variant 0.733883 0.1115 0.01721 0.695654 0.6538456 0 8.035316e-08 FALSE 2.03047e-05 ENSE00002320068_026 ENSE00002320068 026 16 90093997 90094166 + 47 87 36 C T 90094103 3610 107 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCAAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027694 90027695 90027695 exon -28 0.6896552 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTTGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 19 131 0 0.04540335 0.02270168 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0.001 -0.962 . synonymous_variant&NMD_transcript_variant LOW GAS8 HGNC 4166 ENST00000565062 2/6 1 NA TCG C,T 4.118e-05 16:90027695 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 synonymous_variant 0.314184 0.13535 0.02404 0.695654 0.7263962 0 8.035316e-08 FALSE 2.84266e-05 ENSE00002320068_027 ENSE00002320068 027 16 90093997 90094166 + 47 87 36 G A 90094104 3611 108 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGTGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027695 90027696 90027696 exon -27 0.7011494 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCACTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 36 43 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0.049 0.468 . missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 1 unknown(0) NA CGC G,A 1.647e-05 16:90027696 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 0.460977 0.26378 0.23191 0.695654 0.8297927 0 8.035316e-08 FALSE 8.12216e-06 ENSE00002320068_028 ENSE00002320068 028 16 90093997 90094166 + 47 87 36 C G 90094107 3612 111 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGCAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027698 90027699 90027699 exon -24 0.7356322 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTGCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 95 230 0.8 0.8744148 0.8372074 NA NA 0.7638609 0.8459333 NA NA 0.03613908 0.02848141 NA 0.8048971 NA 0.03231025 NA FALSE NA 0.977 3.732 . missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 rs374981045 1 unknown(0) NA G:0 G:0.0001 TCC C,G 8.236e-06 16:90027699 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 0.676345 0.97514 0.95565 0.695654 0.8914329 0 8.035316e-08 FALSE 4.06101e-06 ENSE00002320068_029 ENSE00002320068 029 16 90093997 90094166 + 47 87 36 A G 90094109 3613 113 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCCGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027700 90027701 90027701 exon -22 0.7586207 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCGGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 138 1698 0.940728 0.9374529 0.9390905 NA NA 0.7638609 0.8459333 NA NA 0.1768671 0.09151959 NA 0.8048971 NA 0.1341934 NA FALSE NA 0.002 -1.422 . synonymous_variant&NMD_transcript_variant LOW GAS8 HGNC 4166 ENST00000565062 2/6 rs200245827 1 G:0.0000 G:0 G:0 NA G:0 G:0 G:0 CAG A,G 0.0001071 16:90027701 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 synonymous_variant 0.021757 0.91231 0.04015 0.695654 0.5859198 0 8.035316e-08 FALSE 9.34048e-05 ENSE00002320068_031 ENSE00002320068 031 16 90093997 90094166 + 47 87 36 A G 90094116 3615 120 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCACGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027707 90027708 90027708 exon -15 0.8390805 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACGTGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 33 21 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 1 4.693 rs142699309 missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 rs142699309 1 unknown(0) NA G:0.0007 G:0 CAT A,G 2.471e-05 16:90027708 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 start_lost 1.493622 0.98489 0.97705 0.695654 0.9860389 0 8.035316e-08 FALSE 3.24902e-05 ENSE00002320068_032 ENSE00002320068 032 16 90093997 90094166 + 47 87 36 A G 90094123 3616 127 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTCCCTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027714 90027715 90027715 exon -8 0.9195402 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAGGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 414 26 0 0 0 NA NA 0.7638609 0.8459333 NA NA -0.7638609 -0.8459333 NA 0.8048971 NA -0.8048971 NA TRUE NA 1 4.742 . missense_variant&NMD_transcript_variant MODERATE GAS8 HGNC 4166 ENST00000565062 2/6 rs371593674 1 unknown(0) NA G:0 G:0.0002 AAG A,G 8.236e-06 16:90027715 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 1.620166 0.98429 0.96958 0.695654 0.9700679 0 8.035316e-08 FALSE 4.06157e-06 ENSE00002320068_034 ENSE00002320068 034 16 90093997 90094166 + 47 87 36 G C 90094125 3618 129 CCACCCGGGGACTGGGCCACAGCCCGCTCTGCTCACCTGCTGCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027716 90027717 90027717 exon -6 0.9425287 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGCAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 166 330 0.846691 0.85 0.8483455 32 122 0.8 0.8 0.8 NA NA 0.7638609 0.8459333 NA NA 0.03613908 -0.04593335 NA 0.8048971 NA -0.004897134 NA FALSE NA 1 8.011 NA NA NA GAS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:90027717 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 missense_variant 4.343074 0.99448 0.99469 0.695654 0.9882131 0 8.035316e-08 FALSE 8.12374e-06 ENSE00002320068_036 ENSE00002320068 036 16 90093997 90094166 + 47 87 36 G C 90094135 3620 139 CCACCCGGGGACTGGGCCACAGCCCGCTCTGGTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027726 90027727 90027727 downstr_intron 5 1.142857 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGACCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 85 82 0 0 0 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 1 5.761 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GAS8 HGNC 4166 ENST00000565062 2/5 1 NA AGC G,C 8.237e-06 16:90027727 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 splice_region_variant 0.764617 0.98817 0.98467 0.090766 0.8950811 0.968392 8.035316e-08 FALSE 4.0627e-06 ENSE00002320068_037 ENSE00002320068 037 16 90093997 90094166 + 47 87 36 C T 90094141 3621 145 CCACCCGGGGACTGGGCCACAGCCCACTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027732 90027733 90027733 downstr_intron 11 1.314286 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGTGGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant 95 97 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.7638609 0.8459333 NA NA NA NA NA 0.8048971 NA NA NA NA NA 0.073 0.035 . intron_variant&NMD_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000565062 2/5 rs368992400 1 T:0.0006 T:0.0015 T:0 NA T:0 T:0 T:0.001 T:0.0011 T:0 GCG C,T 0.0001812 16:90027733 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 non_coding_transcript_exon_variant 0.167182 0.13316 0.03016 0.090766 0.7894589 0.149064 8.035316e-08 FALSE 0.000134119 ENSE00002320068_038 ENSE00002320068 038 16 90093997 90094166 + 47 87 36 G A 90094142 3622 146 CCACCCGGGGACTGGGCCACAGCCTGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027733 90027734 90027734 downstr_intron 12 1.342857 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCAGGCTGTGGCCCAGTCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 20 76 0.01547337 0 0.007736684 NA NA 0.7638609 0.8459333 NA NA -0.7483876 -0.8459333 NA 0.8048971 NA -0.7971605 NA TRUE NA 0.001 0.294 . intron_variant&NMD_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000565062 2/5 rs199840417 1 A:0.0004 A:0 A:0 NA A:0 A:0.002 A:0 CGG G,A 3.295e-05 16:90027734 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 non_coding_transcript_exon_variant -0.647588 0.09889 0.00183 0.090766 0.8079079 0.0980118 8.035316e-08 FALSE 4.06392e-05 ENSE00002320068_041 ENSE00002320068 041 16 90093997 90094166 + 47 87 36 T C 90094156 3625 160 CCACCCGGGGGCTGGGCCACAGCCCGCTCTGCTCACCTGCTCCTTGCTCATGTCCTCTGGAGCGAGCCCATCGACAATCGGGGTGCCTTTGGCTTTGCCTTTCTTCCCTTTCTTTTTCGGTGCCTTTGGTGGAAATAATGGGGTAAGAGAGACTCTAACAGCTTCCCCTT 90027588 90027758 90027747 90027748 90027748 downstr_intron 26 1.742857 AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGCCCCCGGGTGG AAGGGGAAGCTGTTAGAGTCTCTCTTACCCCATTATTTCCACCAAAGGCACCGAAAAAGAAAGGGAAGAAAGGCAAAGCCAAAGGCACCCCGATTGTCGATGGGCTCGCTCCAGAGGACATGAGCAAGGAGCAGGTGAGCAGAGCGGGCTGTGGCCCAGTCCCCGGGTGG mutant NA NA NA NA NA 58 20 0.8 0.8 0.8 NA NA 0.7638609 0.8459333 NA NA 0.03613908 -0.04593335 NA 0.8048971 NA -0.004897134 NA FALSE NA 0 -2.69 . intron_variant&NMD_transcript_variant MODIFIER GAS8 HGNC 4166 ENST00000565062 2/5 1 NA GTC T,C 1.648e-05 16:90027748 GAS8 HGNC Symbol protein_coding 25346 ENSG00000141013 ENSE00003606096 non_coding_transcript_exon_variant 0.108243 0.11048 0.00442 0.090766 0.5733493 0.0665682 8.035316e-08 FALSE 8.14147e-06 ENSE00002323927_000 ENSE00002323927 000 19 35993681 35993850 - 51 57 62 NA NA NA NA NA AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 NA NA NA NA NA NA AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC natural 56 75 0.9949325 0.9731328 0.9840326 643 860 0.8731392 0.8831649 0.878152 0.9949325 0.9731328 0.8731392 0.8831649 0 0 0 0 0.9840326 0.878152 0 0 0 FALSE FALSE NA NA NA NA NA DMKN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DMKN NA NA NA ENSG00000161249 ENSE00003702424 NA NA NA NA NA NA NA 3.472584e-09 FALSE NA ENSE00002323927_002 ENSE00002323927 002 19 35993681 35993850 - 51 57 62 C T 35993699 2110 152 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGAGCCTGGCCCTCCTGACTC 35502778 35502948 35502796 35502797 35502797 downstr_intron 33 1.66 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGAGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 23 17 1 1 1 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1268608 0.1168351 0.9840326 0.878152 NA 0.121848 NA FALSE NA 0 -0.172 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/5 rs374587394 1 NA T:0.0007 T:0 CCC C,T 4.118e-05 19:35502797 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant 0.581978 0.15866 0.04203 0.162113 0.7605241 0.135153 3.472584e-09 FALSE 2.43879e-05 ENSE00002323927_004 ENSE00002323927 004 19 35993681 35993850 - 51 57 62 C G 35993701 2112 150 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGCGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502798 35502799 35502799 downstr_intron 31 1.62 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGCGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 10 25 1 1 1 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1268608 0.1168351 0.9840326 0.878152 NA 0.121848 NA FALSE NA 0 -0.287 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/5 1 NA CCC C,G 3.295e-05 19:35502799 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant 0.890926 0.20779 0.10739 0.162113 0.6962602 0.157937 3.472584e-09 FALSE 4.06355e-05 ENSE00002323927_005 ENSE00002323927 005 19 35993681 35993850 - 51 57 62 T C 35993705 2113 146 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAGCTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502802 35502803 35502803 downstr_intron 27 1.54 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAGCTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 77 530 0.8844715 0.8736883 0.8790799 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.01133231 -0.0094766 0.9840326 0.878152 NA 0.0009278561 NA FALSE NA 0.018 0.076 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/5 1 NA GTT T,C 8.236e-06 19:35502803 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant 1.023791 0.18367 0.10436 0.162113 0.7402932 0.157937 3.472584e-09 FALSE 4.06392e-06 ENSE00002323927_007 ENSE00002323927 007 19 35993681 35993850 - 51 57 62 A T 35993715 2115 136 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCAGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502812 35502813 35502813 downstr_intron 17 1.34 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCAGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 73 12 1 1 1 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1268608 0.1168351 0.9840326 0.878152 NA 0.121848 NA FALSE NA 0 -0.025 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/5 rs566034279 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CAG A,T 8.236e-06 19:35502813 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant 0.479357 0.18858 0.10183 0.262962 0.7078303 0.157937 3.472584e-09 FALSE NA ENSE00002323927_010 ENSE00002323927 010 19 35993681 35993850 - 51 57 62 G A 35993738 2118 113 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTTTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502835 35502836 35502836 exon -7 0.8947368 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTTTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 300 35 0.9968346 1 0.9984173 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1236954 0.1168351 0.9840326 0.878152 NA 0.1202653 NA FALSE NA 1 0.553 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/6 1 NA AGA G,A 4.118e-05 19:35502836 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 synonymous_variant 1.514722 0.81177 0.47291 0.634777 0.7528239 0 3.472584e-09 FALSE 3.65604e-05 ENSE00002323927_014 ENSE00002323927 014 19 35993681 35993850 - 51 57 62 A G 35993749 2122 102 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACCTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502846 35502847 35502847 exon -18 0.7017544 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACCTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 57 64 0.8710929 0.863609 0.867351 0.9949325 0.9731328 0.8731392 0.8831649 NA NA -0.002046266 -0.01955591 0.9840326 0.878152 NA -0.01080109 NA FALSE NA 1 4.248 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/6 1 NA AAG A,G 8.236e-06 19:35502847 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 missense_variant 3.833366 0.9348 0.84443 0.706298 0.9908637 0 3.472584e-09 FALSE 4.06293e-06 ENSE00002323927_015 ENSE00002323927 015 19 35993681 35993850 - 51 57 62 G A 35993753 2123 98 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTTTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502850 35502851 35502851 exon -22 0.6315789 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTTTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 74 67 0.9810276 0.9988558 0.9899417 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1078884 0.115691 0.9840326 0.878152 NA 0.1117897 NA FALSE NA 1 0.507 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/6 1 NA AGA G,A 8.236e-06 19:35502851 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 synonymous_variant 1.33561 0.88984 0.48725 0.706298 0.704132 0 3.472584e-09 FALSE 4.06309e-06 ENSE00002323927_018 ENSE00002323927 018 19 35993681 35993850 - 51 57 62 C T 35993763 2126 88 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCAAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502860 35502861 35502861 exon 26 0.4561404 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCAAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 41 499 1 0.9623468 0.9811734 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1268608 0.07918193 0.9840326 0.878152 NA 0.1030214 NA FALSE NA 0.252 3.548 NA NA NA DMKN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:35502861 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 missense_variant 5.21349 0.57094 0.34314 0.706298 0.9993749 0 3.472584e-09 FALSE 4.47293e-05 ENSE00002323927_021 ENSE00002323927 021 19 35993681 35993850 - 51 57 62 G A 35993765 2129 86 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACTCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502862 35502863 35502863 exon 24 0.4210526 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACTCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 124 10 1 1 1 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1268608 0.1168351 0.9840326 0.878152 NA 0.121848 NA FALSE NA 0.002 -2.321 rs146956236 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/6 rs146956236 1 NA A:0.002 A:0 GGG G,A 0.0001235 19:35502863 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 synonymous_variant 0.69049 0.14604 0.01449 0.706298 0.473885 0 3.472584e-09 FALSE 0.000158566 ENSE00002323927_022 ENSE00002323927 022 19 35993681 35993850 - 51 57 62 G A 35993766 2130 85 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCATCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502863 35502864 35502864 exon 23 0.4035088 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCATCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 90 181 0.8929123 1 0.9464562 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.01977311 0.1168351 0.9840326 0.878152 NA 0.06830413 NA FALSE NA 0.996 2.982 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/6 1 NA GGT G,A 8.236e-06 19:35502864 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 missense_variant 4.147823 0.89298 0.65866 0.706298 0.9989353 0 3.472584e-09 FALSE 4.06547e-06 ENSE00002323927_026 ENSE00002323927 026 19 35993681 35993850 - 51 57 62 G A 35993778 2134 73 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCTGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502875 35502876 35502876 exon 11 0.1929825 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCTGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 66 221 0.9942494 1 0.9971247 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1211102 0.1168351 0.9840326 0.878152 NA 0.1189727 NA FALSE NA 0.341 1.019 rs147573481 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/6 rs147573481 1 A:0.0008 A:0 A:0 NA A:0.004 A:0 A:0 A:0 A:0.0001 CGG G,A 0.000173 19:35502876 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 missense_variant 2.212449 0.54496 0.19848 0.706298 0.9901843 0 3.472584e-09 FALSE 0.000288778 ENSE00002323927_027 ENSE00002323927 027 19 35993681 35993850 - 51 57 62 C T 35993783 2135 68 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAAGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502880 35502881 35502881 exon 6 0.1052632 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAAGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 17 58 1 0.9952286 0.9976143 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1268608 0.1120638 0.9840326 0.878152 NA 0.1194623 NA FALSE NA 0 -0.753 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/6 1 NA CCT C,T 8.236e-06 19:35502881 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 synonymous_variant -0.070368 0.163 0.00759 0.706298 0.517278 0 3.472584e-09 FALSE 4.06719e-06 ENSE00002323927_028 ENSE00002323927 028 19 35993681 35993850 - 51 57 62 G C 35993785 2136 66 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACGAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502882 35502883 35502883 exon 4 0.07017544 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACGAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 182 124 1 0.9922772 0.9961386 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1268608 0.1091123 0.9840326 0.878152 NA 0.1179865 NA FALSE NA 0.013 1.471 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 4/6 1 NA TGG G,C 1.647e-05 19:35502883 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 missense_variant 0.163625 0.22551 0.13282 0.706298 0.9006698 0 3.472584e-09 FALSE 1.62702e-05 ENSE00002323927_029 ENSE00002323927 029 19 35993681 35993850 - 51 57 62 T C 35993787 2137 64 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAGCCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502884 35502885 35502885 exon 2 0.03508772 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAGCCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 164 56 0.973127 0.9766208 0.9748739 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.0999878 0.09345594 0.9840326 0.878152 NA 0.09672187 NA FALSE NA 0.001 -0.125 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW DMKN HGNC 25063 ENST00000486450 4/6 1 NA GTT T,C 1.647e-05 19:35502885 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 missense_variant -0.639438 0.19967 0.00665 0.706298 0.6484817 0 3.472584e-09 FALSE 1.22057e-05 ENSE00002323927_031 ENSE00002323927 031 19 35993681 35993850 - 51 57 62 G A 35993804 2139 47 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCTGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502901 35502902 35502902 upstr_intron -16 -0.2419355 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCTGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 183 373 1 0.9950558 0.9975279 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1268608 0.111891 0.9840326 0.878152 NA 0.1193759 NA FALSE NA 0 -1.666 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 3/5 rs368062269 1 NA A:0.0005 A:0 CGG G,A 3.295e-05 19:35502902 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant -0.354416 0.16966 0.03951 0.060467 0.3434603 0.189631 3.472584e-09 FALSE 1.63475e-05 ENSE00002323927_032 ENSE00002323927 032 19 35993681 35993850 - 51 57 62 G A 35993807 2140 44 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTTCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502904 35502905 35502905 upstr_intron -19 -0.2903226 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTTCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 48 48 0.9901705 1 0.9950852 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1170313 0.1168351 0.9840326 0.878152 NA 0.1169332 NA FALSE NA 0.464 1.256 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 3/5 1 NA GGA G,A 8.237e-06 19:35502905 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant 0.163996 0.19393 0.14265 0.060467 0.5173197 0.27809 3.472584e-09 FALSE 8.1813e-06 ENSE00002323927_036 ENSE00002323927 036 19 35993681 35993850 - 51 57 62 G C 35993820 2144 31 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTGTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502917 35502918 35502918 upstr_intron -32 -0.5 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTGTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 50 204 0.9887842 0.9947987 0.9917914 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.115645 0.1116338 0.9840326 0.878152 NA 0.1136394 NA FALSE NA 0 -0.567 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 3/5 1 NA AGA G,C 8.238e-06 19:35502918 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant 0.225261 0.18016 0.07082 0.060467 0.6302881 0.0643868 3.472584e-09 FALSE NA ENSE00002323927_037 ENSE00002323927 037 19 35993681 35993850 - 51 57 62 A T 35993821 2145 30 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCACTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502918 35502919 35502919 upstr_intron -33 -0.516129 AGGAGGGGTGGGTGAGTGGGCCCAGGCTCACTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 77 89 0.9882073 0.9937798 0.9909936 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1150681 0.110615 0.9840326 0.878152 NA 0.1128415 NA FALSE NA 0.009 1.388 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 3/5 rs201058202 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GAG A,T 1.648e-05 19:35502919 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant 0.205668 0.26886 0.07237 0.060467 0.8065226 0.0643868 3.472584e-09 FALSE 8.41992e-06 ENSE00002323927_038 ENSE00002323927 038 19 35993681 35993850 - 51 57 62 G C 35993822 2146 29 AGGAGGGGTGGGTGAGTGGGCCCAGGCTGTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC 35502778 35502948 35502919 35502920 35502920 upstr_intron -34 -0.5322581 AGGAGGGGTGGGTGAGTGGGCCCAGGCTGTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC AGGAGGGGTGGGTGAGTGGGCCCAGGCTCTCTGCTAACCTGCTCCCCGCCTTTCATCCACAGAACCAGGTCCCGCCCCCCAGCACCCGAGCCCTCCTCTACTTCAGCCGACTCTGGGAGGTAGGAGAATTCTTGCTGTTTGAAGAACTGGGGGCCTGGCCCTCCTGACTC mutant NA NA NA NA NA 317 431 0.9990318 0.9991889 0.9991103 0.9949325 0.9731328 0.8731392 0.8831649 NA NA 0.1258926 0.1160241 0.9840326 0.878152 NA 0.1209583 NA FALSE NA 0.001 0.154 . intron_variant&non_coding_transcript_variant MODIFIER DMKN HGNC 25063 ENST00000486450 3/5 1 NA AGA G,C 1.648e-05 19:35502920 DMKN HGNC Symbol protein_coding 16438 ENSG00000161249 ENSE00003702424 intron_variant 0.099083 0.20814 0.11201 0.060467 0.6011973 0.0643868 3.472584e-09 FALSE 2.1005e-05 ENSE00002324202_000 ENSE00002324202 000 2 225717047 225717216 - 47 66 57 NA NA NA NA NA ACCTGCCTTCCCACTTTATGCTGGGTCCCTTTGCTGACTTGGCTCACCTTCAGGGGCTTGGCACTTTCTTCATCTGAATTTTTGAATTCAATGCACACAGTTATATTCCGTGCCTGAAATTACGGAGAGAAAAAATGGAAATTGTAATTTCCTATCAAATAACATAAAAA 224852329 224852499 NA NA NA NA NA NA TTTTTATGTTATTTGATAGGAAATTACAATTTCCATTTTTTCTCTCCGTAATTTCAGGCACGGAATATAACTGTGTGCATTGAATTCAAAAATTCAGATGAAGAAAGTGCCAAGCCCCTGAAGGTGAGCCAAGTCAGCAAAGGGACCCAGCATAAAGTGGGAAGGCAGGT TTTTTATGTTATTTGATAGGAAATTACAATTTCCATTTTTTCTCTCCGTAATTTCAGGCACGGAATATAACTGTGTGCATTGAATTCAAAAATTCAGATGAAGAAAGTGCCAAGCCCCTGAAGGTGAGCCAAGTCAGCAAAGGGACCCAGCATAAAGTGGGAAGGCAGGT natural NA NA NA NA NA 241 65 0.9849072 0.9795164 0.9822118 NA NA 0.9849072 0.9795164 NA NA 0 0 NA 0.9822118 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00002324202 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00002324542_000 ENSE00002324542 000 18 77096580 77096749 + 48 84 38 NA NA NA NA NA ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 NA NA NA NA NA NA ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT natural 10 12 0.9991048 0.9995418 0.9993233 1446 332 0.9955961 0.9848518 0.990224 0.9991048 0.9995418 0.9955961 0.9848518 0 0 0 0 0.9993233 0.990224 0 0 0 FALSE FALSE NA NA NA NA NA ATP9B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP9B NA NA NA ENSG00000166377 ENSE00003659967 NA NA NA NA NA NA NA 7.024147e-12 FALSE NA ENSE00002324542_002 ENSE00002324542 002 18 77096580 77096749 + 48 84 38 A T 77096607 883 28 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCCGAGACACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336606 79336607 79336607 upstr_intron -21 -0.4166667 ACAGGGGCTCTGCAGGGCCCACCTGTGTCTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 126 21 0.9938622 1 0.9969311 0.9991048 0.9995418 0.9955961 0.9848518 NA NA -0.001733934 0.01514822 0.9993233 0.990224 NA 0.006707145 NA FALSE NA 0.54 0.688 . intron_variant MODIFIER ATP9B HGNC 13541 ENST00000543761 1/13 1 NA GAC A,T 2.471e-05 18:79336607 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 intron_variant 0.305142 0.22413 0.1855 0.099367 0.8831894 0.046323 7.024147e-12 FALSE 2.47682e-05 ENSE00002324542_003 ENSE00002324542 003 18 77096580 77096749 + 48 84 38 C T 77096610 884 31 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCCAAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336609 79336610 79336610 upstr_intron -18 -0.3541667 ACAGGGGCTCTGCAGGGCCCACCTGTGACTTGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 17 123 0.8866928 1 0.9433464 0.9991048 0.9995418 0.9955961 0.9848518 NA NA -0.1089033 0.01514822 0.9993233 0.990224 NA -0.04687755 NA FALSE NA 0 -1.574 . intron_variant MODIFIER ATP9B HGNC 13541 ENST00000543761 1/13 1 NA TCG C,T 8.237e-06 18:79336610 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 intron_variant 0.126486 0.1699 0.00679 0.156188 0.7124244 0.046875 7.024147e-12 FALSE NA ENSE00002324542_004 ENSE00002324542 004 18 77096580 77096749 + 48 84 38 G A 77096611 885 32 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCTGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336610 79336611 79336611 upstr_intron -17 -0.3333333 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCAGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 102 457 1 0.9972899 0.9986449 0.9991048 0.9995418 0.9955961 0.9848518 NA NA 0.004403868 0.0124381 0.9993233 0.990224 NA 0.008420982 NA FALSE NA 0.001 0.431 . intron_variant MODIFIER ATP9B HGNC 13541 ENST00000543761 1/13 1 NA CGG G,A 8.237e-06 18:79336611 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 intron_variant -0.022469 0.16144 0.0111 0.156188 0.5738158 0.046875 7.024147e-12 FALSE NA ENSE00002324542_006 ENSE00002324542 006 18 77096580 77096749 + 48 84 38 C T 77096616 887 37 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAAAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336615 79336616 79336616 upstr_intron -12 -0.2291667 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTTTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 264 15 0.9987462 1 0.9993731 0.9991048 0.9995418 0.9955961 0.9848518 NA NA 0.003150077 0.01514822 0.9993233 0.990224 NA 0.00914915 NA FALSE NA 0 -0.828 . intron_variant MODIFIER ATP9B HGNC 13541 ENST00000543761 1/13 1 NA TCT C,T 8.237e-06 18:79336616 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 intron_variant 0.615327 0.20904 0.01314 0.156188 0.6895193 0.122059 7.024147e-12 FALSE 4.09584e-06 ENSE00002324542_007 ENSE00002324542 007 18 77096580 77096749 + 48 84 38 T A 77096617 888 38 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGTGAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336616 79336617 79336617 upstr_intron -11 -0.2083333 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCACCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 88 359 1 1 1 0.9991048 0.9995418 0.9955961 0.9848518 NA NA 0.004403868 0.01514822 0.9993233 0.990224 NA 0.009776045 NA FALSE NA 0 0.388 . intron_variant MODIFIER ATP9B HGNC 13541 ENST00000543761 1/13 1 NA CTC T,A 4.942e-05 18:79336617 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 intron_variant 0.959621 0.28805 0.09938 0.156188 0.8184382 0.175721 7.024147e-12 FALSE 3.27453e-05 ENSE00002324542_008 ENSE00002324542 008 18 77096580 77096749 + 48 84 38 T G 77096628 889 49 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCCCTGGAAAAGGAGAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336627 79336628 79336628 exon 1 0.01190476 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGGGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 107 60 0.9656234 1 0.9828117 0.9991048 0.9995418 0.9955961 0.9848518 NA NA -0.02997269 0.01514822 0.9993233 0.990224 NA -0.007412234 NA FALSE NA 1 7.409 rs141654931 splice_region_variant&5_prime_UTR_variant LOW ATP9B HGNC 13541 ENST00000543761 2/14 rs141654931 1 NA G:0 G:0.0001 GTG T,G 8.237e-06 18:79336628 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 missense_variant 5.06003 0.98964 0.98063 0.646311 0.9811914 0 7.024147e-12 FALSE 1.22462e-05 ENSE00002324542_013 ENSE00002324542 013 18 77096580 77096749 + 48 84 38 G A 77096649 894 70 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCTTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336648 79336649 79336649 exon 22 0.2619048 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAAGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 16 109 1 1 1 0.9991048 0.9995418 0.9955961 0.9848518 NA NA 0.004403868 0.01514822 0.9993233 0.990224 NA 0.009776045 NA FALSE NA 1 9.114 . missense_variant MODERATE ATP9B HGNC 13541 ENST00000543761 2/14 1 probably_damaging(1) NA AGG G,A 8.302e-06 18:79336649 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 missense_variant 6.824873 0.99202 0.98766 0.646311 0.9993862 0 7.024147e-12 FALSE NA ENSE00002324542_017 ENSE00002324542 017 18 77096580 77096749 + 48 84 38 T C 77096668 898 89 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAGCCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336667 79336668 79336668 exon 41 0.4880952 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGCTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 15 296 1 1 1 0.9991048 0.9995418 0.9955961 0.9848518 NA NA 0.004403868 0.01514822 0.9993233 0.990224 NA 0.009776045 NA FALSE NA 1 7.409 . missense_variant MODERATE ATP9B HGNC 13541 ENST00000543761 2/14 1 possibly_damaging(0.883) NA GTT T,C 8.237e-06 18:79336668 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 missense_variant 5.224468 0.98924 0.97677 0.706548 0.9982939 0 7.024147e-12 FALSE 4.10458e-06 ENSE00002324542_018 ENSE00002324542 018 18 77096580 77096749 + 48 84 38 A C 77096672 899 93 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTGGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336671 79336672 79336672 exon -40 0.5357143 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCCAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 135 122 1 1 1 0.9991048 0.9995418 0.9955961 0.9848518 NA NA 0.004403868 0.01514822 0.9993233 0.990224 NA 0.009776045 NA FALSE NA 0.812 -0.063 . synonymous_variant LOW ATP9B HGNC 13541 ENST00000543761 2/14 1 NA CAA A,C 3.295e-05 18:79336672 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 synonymous_variant -0.583945 0.94674 0.31911 0.706548 0.3988335 0 7.024147e-12 FALSE 1.63606e-05 ENSE00002324542_024 ENSE00002324542 024 18 77096580 77096749 + 48 84 38 G T 77096703 905 124 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCGGCTCACCTCAAAGTACTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336702 79336703 79336703 exon -9 0.9047619 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGTACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 215 55 1 1 1 0.9991048 0.9995418 0.9955961 0.9848518 NA NA 0.004403868 0.01514822 0.9993233 0.990224 NA 0.009776045 NA FALSE NA 1 9.114 . missense_variant MODERATE ATP9B HGNC 13541 ENST00000543761 2/14 1 probably_damaging(0.967) NA GGA G,T 8.236e-06 18:79336703 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 missense_variant 6.618741 0.99223 0.98934 0.706298 0.995427 0 7.024147e-12 FALSE 4.07588e-06 ENSE00002324542_026 ENSE00002324542 026 18 77096580 77096749 + 48 84 38 C T 77096718 907 139 ACGTCGTAGGAGGATGGGATGGCTGGGAGTCAGCTCACCTCAAAGTCCTGGTACTGCTCCTCTGTCAACGCCTTCTTTGCAACCACGAGGGTCCGCAGTCCTTCGCGAGCCATGTTTCCGCACTGGAAAAGGAGAGGCCGAGTCACAGGTGGGCCCTGCAGAGCCCCTGT 79336579 79336749 79336717 79336718 79336718 downstr_intron 7 1.189189 ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCTGACTCCCAGCCATCCCATCCTCCTACGACGT ACAGGGGCTCTGCAGGGCCCACCTGTGACTCGGCCTCTCCTTTTCCAGTGCGGAAACATGGCTCGCGAAGGACTGCGGACCCTCGTGGTTGCAAAGAAGGCGTTGACAGAGGAGCAGTACCAGGACTTTGAGGTGAGCCGACTCCCAGCCATCCCATCCTCCTACGACGT mutant NA NA NA NA NA 53 49 1 1 1 0.9991048 0.9995418 0.9955961 0.9848518 NA NA 0.004403868 0.01514822 0.9993233 0.990224 NA 0.009776045 NA FALSE NA 0.002 -2.711 . splice_region_variant&intron_variant LOW ATP9B HGNC 13541 ENST00000543761 2/13 rs374598025 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 CCG C,T 9.884e-05 18:79336718 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003659967 splice_region_variant 0.052573 0.05195 0.00209 0.099367 0.7625478 0.0532075 7.024147e-12 FALSE 6.54033e-05 ENSE00002324624_000 ENSE00002324624 000 2 172749662 172749831 - 53 54 63 NA NA NA NA NA CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 NA NA NA NA NA NA CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG natural 12 17 1 0.9906468 0.9953234 1435 3658 0.8523991 0.7970365 0.8247178 1 0.9906468 0.8523991 0.7970365 0 0 0 0 0.9953234 0.8247178 0 0 0 FALSE FALSE NA NA NA NA NA SLC25A12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC25A12 NA NA NA ENSG00000115840 ENSE00003588240 NA NA NA NA NA NA NA 0.8870505 FALSE NA ENSE00002324624_001 ENSE00002324624 001 2 172749662 172749831 - 53 54 63 T C 172749674 3206 158 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAGAAAACGTACATG 171893151 171893321 171893163 171893164 171893164 downstr_intron 41 1.788462 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAGAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 438 333 0.9922117 0.9967238 0.9944677 1 0.9906468 0.8523991 0.7970365 NA NA 0.1398125 0.1996873 0.9953234 0.8247178 NA 0.1697499 NA FALSE NA 0 -1.879 . intron_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 2/4 rs557728714 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTT T,C 2.471e-05 2:171893164 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 intron_variant 0.050939 0.18911 0.05324 0.119682 0.5777463 0.0626153 0.8870505 FALSE 1.62995e-05 ENSE00002324624_004 ENSE00002324624 004 2 172749662 172749831 - 53 54 63 T C 172749686 3209 146 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCGTTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893175 171893176 171893176 downstr_intron 29 1.557692 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCGTTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 128 910 1 0.9999582 0.9999791 1 0.9906468 0.8523991 0.7970365 NA NA 0.1476009 0.2029217 0.9953234 0.8247178 NA 0.1752613 NA FALSE NA 0.021 0.554 . intron_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 2/4 1 NA ATG T,C 0.0002553 2:171893176 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 intron_variant 0.258737 0.15512 0.10501 0.125411 0.5116103 0.0711141 0.8870505 FALSE 0.000280821 ENSE00002324624_006 ENSE00002324624 006 2 172749662 172749831 - 53 54 63 A G 172749699 3211 133 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCACAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893188 171893189 171893189 downstr_intron 16 1.307692 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCACAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 919 238 1 1 1 1 0.9906468 0.8523991 0.7970365 NA NA 0.1476009 0.2029635 0.9953234 0.8247178 NA 0.1752822 NA FALSE NA 0 -0.372 . intron_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 2/4 1 NA TAT A,G 8.236e-06 2:171893189 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 intron_variant -0.083346 0.15446 0.05981 0.12324 0.2779851 0.0548829 0.8870505 FALSE 4.0622e-06 ENSE00002324624_007 ENSE00002324624 007 2 172749662 172749831 - 53 54 63 C G 172749706 3212 126 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGCCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893195 171893196 171893196 downstr_intron 9 1.173077 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGCCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 106 287 0.9552115 0.994655 0.9749333 1 0.9906468 0.8523991 0.7970365 NA NA 0.1028124 0.1976186 0.9953234 0.8247178 NA 0.1502155 NA FALSE NA 0 -0.582 . intron_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 2/4 1 NA GCC C,G 8.236e-06 2:171893196 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 intron_variant 0.499008 0.20291 0.07912 0.12324 0.6291497 0.107681 0.8870505 FALSE 4.06246e-06 ENSE00002324624_009 ENSE00002324624 009 2 172749662 172749831 - 53 54 63 T C 172749740 3214 92 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCGTGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893229 171893230 171893230 exon -26 0.537037 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCGTGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 365 36 0.9944144 1 0.9972072 1 0.9906468 0.8523991 0.7970365 NA NA 0.1420153 0.2029635 0.9953234 0.8247178 NA 0.1724894 NA FALSE NA 1 2.573 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 2/5 rs371796365 1 NA C:0.0002 C:0 ATG T,C 8.237e-06 2:171893230 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 missense_variant 1.098786 0.92825 0.75047 0.695654 0.9591409 0 0.8870505 FALSE 4.0621e-06 ENSE00002324624_010 ENSE00002324624 010 2 172749662 172749831 - 53 54 63 T G 172749746 3215 86 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGCTCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893235 171893236 171893236 exon 23 0.4259259 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGCTCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 215 696 1 0.997105 0.9985525 1 0.9906468 0.8523991 0.7970365 NA NA 0.1476009 0.2000685 0.9953234 0.8247178 NA 0.1738347 NA FALSE NA 1 4.051 rs150071586 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 2/5 rs150071586&COSM1009559 1 NA G:0 G:0.0002 ATC T,G 8.237e-06 2:171893236 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 missense_variant 2.611936 0.93056 0.81644 0.695654 0.9895173 0 0.8870505 FALSE 4.06217e-06 ENSE00002324624_012 ENSE00002324624 012 2 172749662 172749831 - 53 54 63 T C 172749759 3217 73 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAGCTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893248 171893249 171893249 exon 10 0.1851852 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAGCTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 108 152 1 1 1 1 0.9906468 0.8523991 0.7970365 NA NA 0.1476009 0.2029635 0.9953234 0.8247178 NA 0.1752822 NA FALSE NA 1 4.051 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 2/5 1 NA GTT T,C 8.237e-06 2:171893249 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 missense_variant 0.972928 0.9294 0.79537 0.695654 0.9864616 0 0.8870505 FALSE 8.12486e-06 ENSE00002324624_013 ENSE00002324624 013 2 172749662 172749831 - 53 54 63 C G 172749763 3218 69 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCACACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893252 171893253 171893253 exon 6 0.1111111 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCACACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 31 91 1 1 1 1 0.9906468 0.8523991 0.7970365 NA NA 0.1476009 0.2029635 0.9953234 0.8247178 NA 0.1752822 NA FALSE NA 0.991 -0.031 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 2/5 rs375251278 1 NA G:0 G:0.0001 TCT C,G 8.237e-06 2:171893253 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 missense_variant 1.482012 0.86453 0.51502 0.695654 0.9747393 0 0.8870505 FALSE NA ENSE00002324624_015 ENSE00002324624 015 2 172749662 172749831 - 53 54 63 C T 172749768 3220 64 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGATGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893257 171893258 171893258 exon 1 0.01851852 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGATGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 523 354 1 1 1 1 0.9906468 0.8523991 0.7970365 NA NA 0.1476009 0.2029635 0.9953234 0.8247178 NA 0.1752822 NA FALSE NA 1 2.513 NA NA NA SLC25A12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:171893258 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 missense_variant 4.100714 0.89347 0.69 0.695654 0.9981499 0 0.8870505 FALSE 4.06355e-06 ENSE00002324624_016 ENSE00002324624 016 2 172749662 172749831 - 53 54 63 T A 172749772 3221 60 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTTCAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893261 171893262 171893262 upstr_intron -4 -0.04761905 CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTTCAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 74 19 1 0.9009569 0.9504784 1 0.9906468 0.8523991 0.7970365 NA NA 0.1476009 0.1039204 0.9953234 0.8247178 NA 0.1257606 NA FALSE NA 0.998 0.421 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC25A12 HGNC 10982 ENST00000472748 1/4 1 NA GTA T,A 8.237e-06 2:171893262 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 splice_region_variant 0.691192 0.43809 0.35499 0.125411 0.7976472 0.317152 0.8870505 FALSE 4.06428e-06 ENSE00002324624_019 ENSE00002324624 019 2 172749662 172749831 - 53 54 63 C T 172749818 3224 14 CTGAAGAGATTGTATGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG 171893151 171893321 171893307 171893308 171893308 upstr_intron -50 -0.7777778 CTGAAGAGATTGTATGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG CTGAAGAGATTGTGTGGTCTCTAGTGAAGCATTAACTGGCTTTTTTTTCTTTTTTGCTTACAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGGTAAATTGGCTTGCATAGTGTGCCTTTCATTGCAAAAACAAAAAACGTACATG mutant NA NA NA NA NA 366 54 1 1 1 1 0.9906468 0.8523991 0.7970365 NA NA 0.1476009 0.2029635 0.9953234 0.8247178 NA 0.1752822 NA FALSE NA 0 -1.022 . intron_variant&non_coding_transcript_variant MODIFIER SLC25A12 HGNC 10982 ENST00000472748 1/4 1 NA ACA C,T 8.276e-06 2:171893308 SLC25A12 HGNC Symbol protein_coding 215489 ENSG00000115840 ENSE00003588240 intron_variant 0.228129 0.16221 0.02798 0.11394 0.6794233 0.223586 0.8870505 FALSE 4.09417e-06 ENSE00002325120_000 ENSE00002325120 000 12 120148306 120148475 - 39 81 50 NA NA NA NA NA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 NA NA NA NA NA NA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA natural 119 69 0.9681135 0.9929948 0.9805541 1777 1041 0.9984073 0.9900672 0.9942373 0.9681135 0.9929948 0.9984073 0.9900672 0 0 0 0 0.9805541 0.9942373 0 0 0 FALSE FALSE NA NA NA NA NA CIT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CIT NA NA NA ENSG00000122966 ENSE00003500862 NA NA NA NA NA NA NA 0.9999987 TRUE NA ENSE00002325120_001 ENSE00002325120 001 12 120148306 120148475 - 39 81 50 C T 120148316 3402 160 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGATGTCTGGTTA 119710500 119710670 119710510 119710511 119710511 downstr_intron 29 1.763158 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGATGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant 37 77 0.7886743 0.7246266 0.7566505 951 524 1 1 1 0.9681135 0.9929948 0.9984073 0.9900672 -0.1794392 -0.2683682 0.001592675 0.009932791 0.9805541 0.9942373 -0.2239037 0.005762733 0.2296664 FALSE FALSE 0.003 0.196 . intron_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/3 1 NA ACC C,T 8.236e-06 12:119710511 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 intron_variant 1.599964 0.32108 0.22992 0.156188 0.856979 0.182476 0.9999987 TRUE 8.1246e-06 ENSE00002325120_003 ENSE00002325120 003 12 120148306 120148475 - 39 81 50 C T 120148325 3404 151 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACAGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710519 119710520 119710520 downstr_intron 20 1.526316 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACAGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 693 184 0.8860769 1 0.9430384 0.9681135 0.9929948 0.9984073 0.9900672 NA NA -0.1123305 0.009932791 0.9805541 0.9942373 NA -0.05119884 NA FALSE NA 0 -1.738 . intron_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/3 rs200239051 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 CCG C,T 2.471e-05 12:119710520 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 intron_variant 0.919379 0.2573 0.18149 0.156188 0.7576089 0.225591 0.9999987 TRUE 2.84329e-05 ENSE00002325120_006 ENSE00002325120 006 12 120148306 120148475 - 39 81 50 G C 120148334 3407 142 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGGATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710528 119710529 119710529 downstr_intron 11 1.289474 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGGATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 326 82 1 1 1 0.9681135 0.9929948 0.9984073 0.9900672 NA NA 0.001592675 0.009932791 0.9805541 0.9942373 NA 0.005762733 NA FALSE NA 0 -0.737 . intron_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/3 1 NA TGC G,C 8.236e-06 12:119710529 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 intron_variant -0.258817 0.28466 0.18917 0.156188 0.6322429 0.193609 0.9999987 TRUE 4.06101e-06 ENSE00002325120_008 ENSE00002325120 008 12 120148306 120148475 - 39 81 50 C T 120148363 3409 113 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACACTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710557 119710558 119710558 exon -19 0.7777778 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACACTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 416 241 0.9769607 1 0.9884804 0.9681135 0.9929948 0.9984073 0.9900672 NA NA -0.02144662 0.009932791 0.9805541 0.9942373 NA -0.005756913 NA FALSE NA 0.017 -1.009 rs35490437 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 rs35490437 1 T:0.0270 T:0.0537 T:0.013 NA T:0.0238 T:0.0169 T:0.0143 T:0.052 T:0.0212 GCG T,T 0.021 12:119710558 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 synonymous_variant 2.248554 0.32398 0.10739 0.732398 0.7812056 0 0.9999987 TRUE 0.0198689 ENSE00002325120_009 ENSE00002325120 009 12 120148306 120148475 - 39 81 50 G A 120148364 3410 112 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCATGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710558 119710559 119710559 exon -20 0.7654321 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCATGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 183 47 1 0.8053512 0.9026756 0.9681135 0.9929948 0.9984073 0.9900672 NA NA 0.001592675 -0.184716 0.9805541 0.9942373 NA -0.09156167 NA FALSE NA 1 9.873 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 1 NA CGT G,A 8.236e-06 12:119710559 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 missense_variant 7.271889 0.98499 0.9868 0.732398 0.9990946 0 0.9999987 TRUE 4.06058e-06 ENSE00002325120_013 ENSE00002325120 013 12 120148306 120148475 - 39 81 50 G A 120148383 3414 93 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACTGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710577 119710578 119710578 exon -39 0.5308642 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACTGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 49 1201 1 0.9977976 0.9988988 0.9681135 0.9929948 0.9984073 0.9900672 NA NA 0.001592675 0.007730433 0.9805541 0.9942373 NA 0.004661554 NA FALSE NA 1 5.178 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 1 NA CGG G,A 3.295e-05 12:119710578 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 missense_variant 6.04239 0.97017 0.95632 0.732398 0.9993216 0 0.9999987 TRUE 2.03032e-05 ENSE00002325120_014 ENSE00002325120 014 12 120148306 120148475 - 39 81 50 C T 120148386 3415 90 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATAACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710580 119710581 119710581 exon 40 0.4938272 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATAACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 258 360 1 0.99021 0.995105 0.9681135 0.9929948 0.9984073 0.9900672 NA NA 0.001592675 0.0001427878 0.9805541 0.9942373 NA 0.0008677313 NA FALSE NA 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 1 NA TCA C,T 8.236e-06 12:119710581 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 missense_variant 5.280465 0.98473 0.98008 0.732398 0.9990908 0 0.9999987 TRUE 8.12117e-06 ENSE00002325120_015 ENSE00002325120 015 12 120148306 120148475 - 39 81 50 T G 120148400 3416 76 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGACACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710594 119710595 119710595 exon 26 0.3209877 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGACACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 13 714 1 1 1 0.9681135 0.9929948 0.9984073 0.9900672 NA NA 0.001592675 0.009932791 0.9805541 0.9942373 NA 0.005762733 NA FALSE NA 1 8.042 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 1 NA TTT T,G 8.236e-06 12:119710595 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 missense_variant 6.371247 0.9809 0.98127 0.732398 0.9981244 0 0.9999987 TRUE 4.06078e-06 ENSE00002325120_016 ENSE00002325120 016 12 120148306 120148475 - 39 81 50 A G 120148417 3417 59 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTCGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710611 119710612 119710612 exon 9 0.1111111 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTCGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 446 554 1 1 1 0.9681135 0.9929948 0.9984073 0.9900672 NA NA 0.001592675 0.009932791 0.9805541 0.9942373 NA 0.005762733 NA FALSE NA 1 2.595 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 1 NA CAA A,G 8.236e-06 12:119710612 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 synonymous_variant 0.352464 0.94944 0.89155 0.706548 0.7747594 0 0.9999987 TRUE 8.1217e-06 ENSE00002325120_018 ENSE00002325120 018 12 120148306 120148475 - 39 81 50 G A 120148438 3419 38 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTTACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710632 119710633 119710633 upstr_intron -13 -0.24 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTTACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 659 544 0.9975388 0.99993 0.9987344 0.9681135 0.9929948 0.9984073 0.9900672 NA NA -0.0008685702 0.009862804 0.9805541 0.9942373 NA 0.004497117 NA FALSE NA 0 -0.112 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 rs549043964 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 TGA G,A 0.0003295 12:119710633 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 non_coding_transcript_exon_variant 0.121405 0.31387 0.3051 0.156188 0.5122578 0.128859 0.9999987 TRUE 0.000333184 ENSE00002325120_019 ENSE00002325120 019 12 120148306 120148475 - 39 81 50 A G 120148443 3420 33 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTCCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710637 119710638 119710638 upstr_intron -18 -0.34 GATCAGCCTCACGATGTCTTCTGTTTTTCTTTCCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 1252 414 1 0.9970031 0.9985015 0.9681135 0.9929948 0.9984073 0.9900672 NA NA 0.001592675 0.006935882 0.9805541 0.9942373 NA 0.004264279 NA FALSE NA 0 -0.948 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 1 NA GAA A,G 8.236e-06 12:119710638 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 non_coding_transcript_exon_variant 0.10789 0.26875 0.09769 0.099367 0.578694 0.0734454 0.9999987 TRUE 4.06306e-06 ENSE00002325120_020 ENSE00002325120 020 12 120148306 120148475 - 39 81 50 G A 120148447 3421 29 GATCAGCCTCACGATGTCTTCTGTTTTTTTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710641 119710642 119710642 upstr_intron -22 -0.42 GATCAGCCTCACGATGTCTTCTGTTTTTTTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 226 100 0.9992693 0.9948941 0.9970817 0.9681135 0.9929948 0.9984073 0.9900672 NA NA 0.0008620105 0.004826874 0.9805541 0.9942373 NA 0.002844442 NA FALSE NA 0 -0.266 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 1 NA AGA G,A 8.237e-06 12:119710642 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 non_coding_transcript_exon_variant 1.537245 0.22211 0.02796 0.099367 0.8052875 0.116986 0.9999987 TRUE 8.12896e-06 ENSE00002325120_021 ENSE00002325120 021 12 120148306 120148475 - 39 81 50 C T 120148463 3422 13 GATCAGCCTCACAATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710657 119710658 119710658 upstr_intron -38 -0.74 GATCAGCCTCACAATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 485 25 0.9871134 1 0.9935567 0.9681135 0.9929948 0.9984073 0.9900672 NA NA -0.01129397 0.009932791 0.9805541 0.9942373 NA -0.0006805889 NA FALSE NA 0 -0.184 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 1 NA TCG C,T 8.237e-06 12:119710658 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 non_coding_transcript_exon_variant 0.262291 0.24303 0.0779 0.156188 0.5694621 0.103878 0.9999987 TRUE NA ENSE00002325120_022 ENSE00002325120 022 12 120148306 120148475 - 39 81 50 G A 120148464 3423 12 GATCAGCCTCATGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 119710658 119710659 119710659 upstr_intron -39 -0.76 GATCAGCCTCATGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA mutant NA NA NA NA NA 979 1893 0.9927902 0.9585658 0.975678 0.9681135 0.9929948 0.9984073 0.9900672 NA NA -0.005617082 -0.03150141 0.9805541 0.9942373 NA -0.01855925 NA FALSE NA 0.004 0.561 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CIT HGNC 1985 ENST00000538073 1/4 rs202211854 1 A:0.0004 A:0.0008 A:0 NA A:0.001 A:0 A:0 CGT G,A 2.471e-05 12:119710659 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003500862 non_coding_transcript_exon_variant 0.095414 0.32372 0.18498 0.156188 0.5949813 0.101213 0.9999987 TRUE 2.4483e-05 ENSE00002325120_BRK ENSE00002325120 BRK 12 120148306 120148475 - 39 81 50 A,G; T,T NA NA NA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAATTAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGCCAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA 119710500 119710670 NA NA NA NA NA NA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAATTAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGCCAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA GATCAGCCTCACGATGTCTTCTGTTTTTCTTTTCTTTCACCTATGAAAAGAAACTGCTTGGAAACTCCCTGCTGAAACTGGAAGGTGATGACCGTCTAGACATGAACTGCACGCTGCCCTTCAGTGACCAGGTAATGCTTGCATGGGCACGGCCAGCTGGTGTCTGGTTA control 53 78 0.02461459 0.01677285 0.02069372 NA NA NA NA NA 0.9681135 0.9929948 0.9984073 0.9900672 -0.9434989 -0.9762219 NA NA 0.9805541 0.9942373 -0.9598604 NA NA NA TRUE NA NA NA NA NA CIT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CIT NA NA NA ENSG00000122966 ENSE00003500862 NA NA NA NA NA NA NA 0.9999987 TRUE NA ENSE00002325141_000 ENSE00002325141 000 2 135602735 135602904 + 68 45 57 NA NA NA NA NA TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 NA NA NA NA NA NA TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG natural 12 40 0.9983962 0.9987467 0.9985715 980 878 0.9981375 0.9477641 0.9729508 0.9983962 0.9987467 0.9981375 0.9477641 0 0 0 0 0.9985715 0.9729508 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003557487 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002325141_013 ENSE00002325141 013 2 135602735 135602904 + 68 45 57 C T 135602838 2782 104 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACATCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845267 134845268 134845268 exon -10 0.8 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACATCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 731 583 0.8735168 0.9988163 0.9361665 0.9983962 0.9987467 0.9981375 0.9477641 NA NA -0.1246208 0.05105215 0.9985715 0.9729508 NA -0.0367843 NA FALSE NA 0.977 0.303 NA NA NA ACMSD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACMSD NA NA NA ENSG00000153086 ENSE00003557487 synonymous_variant 1.512793 0.93686 0.33842 0.497415 0.7279788 0 1.988715e-07 FALSE 4.0661e-06 ENSE00002325517_000 ENSE00002325517 000 6 75811263 75811432 - 53 54 63 NA NA NA NA NA AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 NA NA NA NA NA NA AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG natural 138 146 0.9978158 0.9913533 0.9945846 6242 6961 0.9115376 0.9070413 0.9092894 0.9978158 0.9913533 0.9115376 0.9070413 0 0 0 0 0.9945846 0.9092894 0 0 0 FALSE FALSE NA NA NA NA NA COL12A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL12A1 NA NA NA ENSG00000111799 ENSE00003683475 NA NA NA NA NA NA NA 0.9999996 TRUE NA ENSE00002325517_001 ENSE00002325517 001 6 75811263 75811432 - 53 54 63 C T 75811282 1831 151 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGAAAATGATGTCATATGGTTG 75101546 75101716 75101565 75101566 75101566 downstr_intron 34 1.653846 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGAAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 2289 1096 0.9987639 1 0.999382 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.0872263 0.09295875 0.9945846 0.9092894 NA 0.09009252 NA FALSE NA 0 0.029 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 55/62 1 NA TCC C,T 8.276e-06 6:75101566 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.231229 0.18422 0.01736 0.084569 0.4024025 0.112627 0.9999996 TRUE 4.25804e-06 ENSE00002325517_002 ENSE00002325517 002 6 75811263 75811432 - 53 54 63 A G 75811284 1832 149 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTCGGAAATGATGTCATATGGTTG 75101546 75101716 75101567 75101568 75101568 downstr_intron 32 1.615385 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTCGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 1706 1535 1 0.8678124 0.9339062 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08846236 -0.03922888 0.9945846 0.9092894 NA 0.02461674 NA FALSE NA 0 0.651 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 55/62 1 NA CAA A,G 8.276e-06 6:75101568 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.111166 0.2097 0.03097 0.084569 0.512678 0.112627 0.9999996 TRUE 4.2534e-06 ENSE00002325517_004 ENSE00002325517 004 6 75811263 75811432 - 53 54 63 T C 75811291 1834 142 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAGTGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101574 75101575 75101575 downstr_intron 25 1.480769 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAGTGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 2909 883 0.966361 0.9957281 0.9810445 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.05482339 0.08868681 0.9945846 0.9092894 NA 0.0717551 NA FALSE NA 0 -2.073 rs3734191 intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 55/62 rs3734191 1 C:0.0603 C:0.0008 C:0.0504 NA C:0.1905 C:0.0159 C:0.0593 C:0.0043 C:0.0195 ATT T,C 0.039 6:75101575 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.196796 0.18438 0.02842 0.084569 0.55491 0.112627 0.9999996 TRUE 0.0397908 ENSE00002325517_005 ENSE00002325517 005 6 75811263 75811432 - 53 54 63 T C 75811292 1835 141 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACGATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101575 75101576 75101576 downstr_intron 24 1.461538 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACGATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 621 1084 0.9962425 0.9991174 0.99768 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.0847049 0.0920762 0.9945846 0.9092894 NA 0.08839055 NA FALSE NA 0 -0.027 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 55/62 1 NA TTG T,C 1.655e-05 6:75101576 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.131604 0.1633 0.08682 0.084569 0.575796 0.112627 0.9999996 TRUE 2.48556e-05 ENSE00002325517_006 ENSE00002325517 006 6 75811263 75811432 - 53 54 63 C G 75811298 1836 135 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCACGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101581 75101582 75101582 downstr_intron 18 1.346154 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCACGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 1267 3384 0.9615769 0.9988218 0.9801993 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.05003924 0.09178051 0.9945846 0.9092894 NA 0.07090988 NA FALSE NA 0 0.907 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 55/62 rs202002189 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 G:0 G:0.0002 CCT C,G 0.0001324 6:75101582 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.215171 0.23392 0.30243 0.084569 0.5304585 0.112686 0.9999996 TRUE 9.49597e-05 ENSE00002325517_007 ENSE00002325517 007 6 75811263 75811432 - 53 54 63 G A 75811300 1837 133 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGTAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101583 75101584 75101584 downstr_intron 16 1.307692 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGTAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 816 778 0.9951322 0.9999511 0.9975416 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08359451 0.09290982 0.9945846 0.9092894 NA 0.08825217 NA FALSE NA 0 0.293 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 55/62 1 NA TGC G,A 4.138e-05 6:75101584 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.262191 0.2114 0.11179 0.084569 0.4067722 0.112686 0.9999996 TRUE 6.96527e-05 ENSE00002325517_008 ENSE00002325517 008 6 75811263 75811432 - 53 54 63 C T 75811301 1838 132 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAACAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101584 75101585 75101585 downstr_intron 15 1.288462 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAACAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 223 2729 0.9993121 0.9989453 0.9991287 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08777448 0.09190405 0.9945846 0.9092894 NA 0.08983926 NA FALSE NA 0 0.395 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 55/62 1 NA GCT C,T 8.276e-06 6:75101585 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.273896 0.26678 0.10279 0.084569 0.4459985 0.112686 0.9999996 TRUE 4.09762e-06 ENSE00002325517_009 ENSE00002325517 009 6 75811263 75811432 - 53 54 63 A G 75811305 1839 128 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCCTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101588 75101589 75101589 downstr_intron 11 1.211538 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCCTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 1142 789 0.9989866 1 0.9994933 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08744895 0.09295875 0.9945846 0.9092894 NA 0.09020385 NA FALSE NA 0.003 0.048 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 55/62 rs370728186 1 NA G:0 G:0.0001 AAG A,G 8.276e-06 6:75101589 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.411663 0.28438 0.07535 0.084569 0.6215457 0.165689 0.9999996 TRUE 2.4502e-05 ENSE00002325517_010 ENSE00002325517 010 6 75811263 75811432 - 53 54 63 A G 75811308 1840 125 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTCTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101591 75101592 75101592 downstr_intron 8 1.153846 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTCTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 1176 1683 0.9870135 0.9994782 0.9932458 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.07547585 0.09243696 0.9945846 0.9092894 NA 0.0839564 NA FALSE NA 0.987 0.38 . splice_region_variant&intron_variant LOW COL12A1 HGNC 2188 ENST00000416123 55/62 1 NA AAA A,G 8.276e-06 6:75101592 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 splice_region_variant 0.491136 0.87953 0.45162 0.084569 0.6212087 0.213453 0.9999996 TRUE 4.08303e-06 ENSE00002325517_012 ENSE00002325517 012 6 75811263 75811432 - 53 54 63 G A 75811326 1842 107 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCTAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101609 75101610 75101610 exon -11 0.8148148 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCTAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 748 1642 0.9645023 0.9327999 0.9486511 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.05296471 0.02575868 0.9945846 0.9092894 NA 0.0393617 NA FALSE NA 1 5.52 . missense_variant MODERATE COL12A1 HGNC 2188 ENST00000416123 55/63 1 possibly_damaging(0.851) NA TGG G,A 8.277e-06 6:75101610 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 missense_variant 4.40338 0.94884 0.92445 0.75658 0.9957448 0 0.9999996 TRUE 4.06928e-06 ENSE00002325517_013 ENSE00002325517 013 6 75811263 75811432 - 53 54 63 G C 75811338 1843 95 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACGAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101621 75101622 75101622 exon -23 0.5925926 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACGAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 2683 2091 0.9981397 0.9996873 0.9989135 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08660211 0.09264602 0.9945846 0.9092894 NA 0.08962406 NA FALSE NA 1 8.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:75101622 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 missense_variant 4.428066 0.96961 0.97953 0.75658 0.996698 0 0.9999996 TRUE 4.47304e-05 ENSE00002325517_014 ENSE00002325517 014 6 75811263 75811432 - 53 54 63 G T 75811338 1844 95 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACAAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101621 75101622 75101622 exon -23 0.5925926 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACAAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 3065 3139 0.9387058 0.9996215 0.9691636 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.02716818 0.09258022 0.9945846 0.9092894 NA 0.0598742 NA FALSE NA 1 8.61 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL12A1 NA NA NA ENSG00000111799 ENSE00003683475 missense_variant 4.714824 0.96932 0.97901 0.75658 0.9874588 0 0.9999996 TRUE 0 ENSE00002325517_016 ENSE00002325517 016 6 75811263 75811432 - 53 54 63 G A 75811344 1846 89 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACTAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101627 75101628 75101628 exon 26 0.4814815 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACTAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 241 1789 0.9998291 0.9972781 0.9985536 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08829148 0.09023684 0.9945846 0.9092894 NA 0.08926416 NA FALSE NA 1 3.837 NA NA NA COL12A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:75101628 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 missense_variant 3.316811 0.94367 0.88431 0.75658 0.9940127 0 0.9999996 TRUE 4.0665e-06 ENSE00002325517_017 ENSE00002325517 017 6 75811263 75811432 - 53 54 63 G A 75811354 1847 79 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTATCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101637 75101638 75101638 exon 16 0.2962963 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTATCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 311 1928 0.9905659 0.9969515 0.9937587 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.07902828 0.08991026 0.9945846 0.9092894 NA 0.08446927 NA FALSE NA 1 1.953 . missense_variant MODERATE COL12A1 HGNC 2188 ENST00000416123 55/63 1 possibly_damaging(0.803) NA GGT G,A 8.277e-06 6:75101638 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 missense_variant 4.069112 0.93648 0.89011 0.75658 0.993152 0 0.9999996 TRUE 4.06646e-06 ENSE00002325517_018 ENSE00002325517 018 6 75811263 75811432 - 53 54 63 C A 75811373 1848 60 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTTCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101656 75101657 75101657 upstr_intron -4 -0.04761905 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTTCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 88 168 0.9929598 1 0.9964799 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.0814222 0.09295875 0.9945846 0.9092894 NA 0.08719047 NA FALSE NA 0.037 -0.227 . splice_region_variant&intron_variant LOW COL12A1 HGNC 2188 ENST00000416123 54/62 1 NA GCA C,A 8.277e-06 6:75101657 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 splice_region_variant -0.015457 0.20035 0.25541 0.084569 0.2587461 0.277621 0.9999996 TRUE 4.07927e-06 ENSE00002325517_019 ENSE00002325517 019 6 75811263 75811432 - 53 54 63 A C 75811374 1849 59 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGGGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101657 75101658 75101658 upstr_intron -5 -0.06349206 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGGGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 1492 496 0.9993639 0.9961495 0.9977567 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08782623 0.08910826 0.9945846 0.9092894 NA 0.08846724 NA FALSE NA 0.026 0.938 . splice_region_variant&intron_variant LOW COL12A1 HGNC 2188 ENST00000416123 54/62 1 NA CAC A,C 8.278e-06 6:75101658 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 splice_region_variant -0.385369 0.26988 0.32222 0.084569 0.5347377 0.286583 0.9999996 TRUE 4.08854e-06 ENSE00002325517_020 ENSE00002325517 020 6 75811263 75811432 - 53 54 63 G A 75811381 1850 52 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTTCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101664 75101665 75101665 upstr_intron -12 -0.1746032 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTTCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 601 2661 0.9927108 0.9987895 0.9957502 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08117315 0.09174828 0.9945846 0.9092894 NA 0.08646072 NA FALSE NA 0.46 0.5 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 54/62 1 NA GGA G,A 8.278e-06 6:75101665 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.193748 0.23555 0.06896 0.084569 0.4412759 0.172795 0.9999996 TRUE 4.12211e-06 ENSE00002325517_021 ENSE00002325517 021 6 75811263 75811432 - 53 54 63 G A 75811392 1851 41 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCATTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101675 75101676 75101676 upstr_intron -23 -0.3492063 AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCATTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 1723 1675 0.9797338 0.9977418 0.9887378 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.06819621 0.09070059 0.9945846 0.9092894 NA 0.0794484 NA FALSE NA 0.002 -0.175 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 54/62 1 NA AGT G,A 8.279e-06 6:75101676 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.550723 0.22179 0.05079 0.084569 0.6660406 0.0455939 0.9999996 TRUE 4.16556e-06 ENSE00002325517_023 ENSE00002325517 023 6 75811263 75811432 - 53 54 63 A G 75811399 1853 34 AAGATTCTCTCCCACACAGGAAGTATATTATAACGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101682 75101683 75101683 upstr_intron -30 -0.4603175 AAGATTCTCTCCCACACAGGAAGTATATTATAACGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 489 750 0.9826353 0.9993303 0.9909828 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.07109768 0.09228909 0.9945846 0.9092894 NA 0.08169339 NA FALSE NA 0 0.589 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 54/62 1 NA CAT A,G 8.279e-06 6:75101683 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.044616 0.23377 0.08948 0.084569 0.681394 0.0455939 0.9999996 TRUE 8.56216e-06 ENSE00002325517_024 ENSE00002325517 024 6 75811263 75811432 - 53 54 63 A G 75811402 1854 31 AAGATTCTCTCCCACACAGGAAGTATATTACAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101685 75101686 75101686 upstr_intron -33 -0.5079365 AAGATTCTCTCCCACACAGGAAGTATATTACAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 981 1203 1 0.9977585 0.9988792 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08846236 0.09071723 0.9945846 0.9092894 NA 0.08958979 NA FALSE NA 0 -0.182 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 54/62 1 NA TAT A,G 8.279e-06 6:75101686 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.03446 0.16255 0.01049 0.108992 0.5959548 0.0455939 0.9999996 TRUE 4.29203e-06 ENSE00002325517_025 ENSE00002325517 025 6 75811263 75811432 - 53 54 63 A G 75811407 1855 26 AAGATTCTCTCCCACACAGGAAGTACATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101690 75101691 75101691 upstr_intron -38 -0.5873016 AAGATTCTCTCCCACACAGGAAGTACATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 1401 2398 1 0.999934 0.999967 0.9978158 0.9913533 0.9115376 0.9070413 NA NA 0.08846236 0.09289279 0.9945846 0.9092894 NA 0.09067758 NA FALSE NA 0 0.12 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 54/62 rs374687927 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0003 G:0 TAT A,G 8.28e-06 6:75101691 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.172599 0.22147 0.02842 0.108992 0.6743698 0.0455939 0.9999996 TRUE 2.64331e-05 ENSE00002325517_026 ENSE00002325517 026 6 75811263 75811432 - 53 54 63 T G 75811411 1856 22 AAGATTCTCTCCCACACAGGACGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 75101694 75101695 75101695 upstr_intron -42 -0.6507937 AAGATTCTCTCCCACACAGGACGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG mutant NA NA NA NA NA 1307 1685 0.8802766 0.9970253 0.9386509 0.9978158 0.9913533 0.9115376 0.9070413 NA NA -0.03126106 0.08998405 0.9945846 0.9092894 NA 0.0293615 NA FALSE NA 0.001 1.127 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 54/62 1 NA CTT T,G 8.28e-06 6:75101695 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003683475 intron_variant 0.436361 0.25927 0.2593 0.108992 0.6136793 0.0455939 0.9999996 TRUE 4.50033e-06 ENSE00002325517_BRK ENSE00002325517 BRK 6 75811263 75811432 - 53 54 63 A,G; T,T NA NA NA AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCTTGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGACCAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG 75101546 75101716 NA NA NA NA NA NA AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCTTGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGACCAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG AAGATTCTCTCCCACACAGGAAGTATATTATAATGTTTCACTTGTTTGTTTCCTTCTGTGCAGGGAACCCCAGGATTACCTGGCCCACCAGGACCAATGGGACCTCCAGGAGACAGAGTAAGTTTTCTTGAGCAGGCTACAATGATGTTGGAAATGATGTCATATGGTTG control 49 28 0 0 0 NA NA NA NA NA 0.9978158 0.9913533 0.9115376 0.9070413 -0.9978158 -0.9913533 NA NA 0.9945846 0.9092894 -0.9945846 NA NA NA TRUE NA NA NA NA NA COL12A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL12A1 NA NA NA ENSG00000111799 ENSE00003683475 NA NA NA NA NA NA NA 0.9999996 TRUE NA ENSE00002325695_000 ENSE00002325695 000 3 139098186 139098355 - 36 87 47 NA NA NA NA NA GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT 139379343 139379513 NA NA NA NA NA NA GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT natural NA NA NA NA NA 803 1819 0.8043694 0.9974488 0.9009091 NA NA 0.8043694 0.9974488 NA NA 0 0 NA 0.9009091 NA 0 NA FALSE NA NA NA NA NA NA COPB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COPB2 NA NA NA ENSG00000184432 ENSE00003672340 NA NA NA NA NA NA NA 0.9999985 TRUE NA ENSE00002325695_001 ENSE00002325695 001 3 139098186 139098355 - 36 87 47 A T 139098196 3229 160 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATACCCATTTTCT 139379343 139379513 139379353 139379354 139379354 downstr_intron 26 1.742857 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATACCCATTTTCT GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT mutant NA NA NA NA NA 50 523 0.9159226 0.9795563 0.9477394 NA NA 0.8043694 0.9974488 NA NA 0.1115532 -0.01789255 NA 0.9009091 NA 0.04683034 NA FALSE NA 0 2.053 . intron_variant MODIFIER COPB2 HGNC 2232 ENST00000333188 3/21 1 NA GAA A,T 6.589e-05 3:139379354 COPB2 HGNC Symbol protein_coding 34132 ENSG00000184432 ENSE00003672340 intron_variant 0.166563 0.52656 0.72061 0.295142 0.7006953 0.565667 0.9999985 TRUE 3.71006e-05 ENSE00002325695_002 ENSE00002325695 002 3 139098186 139098355 - 36 87 47 A G 139098197 3230 159 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTACTCCCATTTTCT 139379343 139379513 139379354 139379355 139379355 downstr_intron 25 1.714286 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTACTCCCATTTTCT GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT mutant NA NA NA NA NA 276 555 0.8722422 0.9999314 0.9360868 NA NA 0.8043694 0.9974488 NA NA 0.06787288 0.00248255 NA 0.9009091 NA 0.03517771 NA FALSE NA 0 0.2 . intron_variant MODIFIER COPB2 HGNC 2232 ENST00000333188 3/21 1 NA AAT A,G 1.647e-05 3:139379355 COPB2 HGNC Symbol protein_coding 34132 ENSG00000184432 ENSE00003672340 intron_variant 0.028527 0.1631 0.089 0.295142 0.4864124 0.0648037 0.9999985 TRUE 8.26276e-06 ENSE00002325695_004 ENSE00002325695 004 3 139098186 139098355 - 36 87 47 A C 139098207 3232 149 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATAGGAATCTCTATTCCCATTTTCT 139379343 139379513 139379364 139379365 139379365 downstr_intron 15 1.428571 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATAGGAATCTCTATTCCCATTTTCT GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT mutant NA NA NA NA NA 78 93 1 1 1 NA NA 0.8043694 0.9974488 NA NA 0.1956306 0.00255115 NA 0.9009091 NA 0.0990909 NA FALSE NA 0.001 4.845 . intron_variant MODIFIER COPB2 HGNC 2232 ENST00000333188 3/21 1 NA CAT A,C 8.236e-06 3:139379365 COPB2 HGNC Symbol protein_coding 34132 ENSG00000184432 ENSE00003672340 intron_variant 0.054283 0.44231 0.76901 0.295142 0.5546531 0.535465 0.9999985 TRUE 4.09564e-06 ENSE00002325695_012 ENSE00002325695 012 3 139098186 139098355 - 36 87 47 T C 139098294 3240 62 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACGTTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT 139379343 139379513 139379451 139379452 139379452 exon 15 0.1724138 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACGTTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT mutant NA NA NA NA NA 927 532 1 1 1 NA NA 0.8043694 0.9974488 NA NA 0.1956306 0.00255115 NA 0.9009091 NA 0.0990909 NA FALSE NA 0.061 -0.766 . synonymous_variant LOW COPB2 HGNC 2232 ENST00000333188 3/22 1 NA ATG T,C 8.236e-06 3:139379452 COPB2 HGNC Symbol protein_coding 34132 ENSG00000184432 ENSE00003672340 synonymous_variant 0.29298 0.8627 0.30187 0.732398 0.6624177 0 0.9999985 TRUE 4.06693e-06 ENSE00002325695_013 ENSE00002325695 013 3 139098186 139098355 - 36 87 47 A G 139098301 3241 55 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGCGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT 139379343 139379513 139379458 139379459 139379459 exon 8 0.09195402 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGCGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT mutant NA NA NA NA NA 372 157 0.9848829 1 0.9924415 NA NA 0.8043694 0.9974488 NA NA 0.1805136 0.00255115 NA 0.9009091 NA 0.09153236 NA FALSE NA 1 6.208 . missense_variant MODERATE COPB2 HGNC 2232 ENST00000333188 3/22 1 tolerated(0.05) benign(0.066) NA CAC A,G 8.236e-06 3:139379459 COPB2 HGNC Symbol protein_coding 34132 ENSG00000184432 ENSE00003672340 missense_variant 3.582068 0.99273 0.99151 0.732398 0.9976146 0 0.9999985 TRUE 2.44465e-05 ENSE00002325695_015 ENSE00002325695 015 3 139098186 139098355 - 36 87 47 T C 139098306 3243 50 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACGCTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT 139379343 139379513 139379463 139379464 139379464 exon 3 0.03448276 GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACGCTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT GTTATTTTCTTATAGCTCAATTTGTGTATTCTTGTTACATTTTAAAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAGTTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGTAAGTAATTAATATGAATCTCTATTCCCATTTTCT mutant NA NA NA NA NA 238 236 0.9931315 1 0.9965658 NA NA 0.8043694 0.9974488 NA NA 0.1887622 0.00255115 NA 0.9009091 NA 0.09565667 NA FALSE NA 0.001 -1.098 . splice_region_variant&synonymous_variant LOW COPB2 HGNC 2232 ENST00000333188 3/22 1 NA GTG T,C 8.236e-06 3:139379464 COPB2 HGNC Symbol protein_coding 34132 ENSG00000184432 ENSE00003672340 splice_region_variant 0.614052 0.18194 0.07109 0.732398 0.5694352 0 0.9999985 TRUE 4.08297e-06 ENSE00002326736_000 ENSE00002326736 000 3 186790596 186790765 + 41 99 30 NA NA NA NA NA TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT 187072807 187072977 NA NA NA NA NA NA TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT natural 440 248 0.9215809 0.9575973 0.9395891 6864 5040 0.9771321 0.992321 0.9847266 0.9215809 0.9575973 0.9771321 0.992321 0 0 0 0 0.9395891 0.9847266 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ST6GAL1 NA NA NA ENSG00000073849 ENSE00003673469 NA NA NA NA NA NA NA 0.8144357 FALSE NA ENSE00002326736_002 ENSE00002326736 002 3 186790596 186790765 + 41 99 30 G T 186790611 4121 16 TATGAATGTTCAAGCTACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT 187072807 187072977 187072822 187072823 187072823 upstr_intron -26 -0.6097561 TATGAATGTTCAAGCTACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT mutant NA NA NA NA NA 177 832 0.9997673 0.9991262 0.9994467 0.9215809 0.9575973 0.9771321 0.992321 NA NA 0.02263514 0.006805162 0.9395891 0.9847266 NA 0.01472015 NA FALSE NA 0.804 1.304 NA NA NA ST6GAL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:187072823 ST6GAL1 HGNC Symbol protein_coding 148068 ENSG00000073849 ENSE00003673469 non_coding_transcript_exon_variant 0.105053 0.36375 0.34055 0.256867 0.7293527 0.0549736 0.8144357 FALSE 8.1217e-06 ENSE00002326736_008 ENSE00002326736 008 3 186790596 186790765 + 41 99 30 C T 186790655 4127 60 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGTGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT 187072807 187072977 187072866 187072867 187072867 exon 19 0.1919192 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGTGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT mutant NA NA NA NA NA 1036 115 0.9909881 0.9996684 0.9953282 0.9215809 0.9575973 0.9771321 0.992321 NA NA 0.01385594 0.007347394 0.9395891 0.9847266 NA 0.01060167 NA FALSE NA 0.51 0.972 . missense_variant MODERATE ST6GAL1 HGNC 10860 ENST00000457772 5/7 1 deleterious(0.01) possibly_damaging(0.773) NA GCG C,T 8.236e-06 3:187072867 ST6GAL1 HGNC Symbol protein_coding 148068 ENSG00000073849 ENSE00003673469 missense_variant 5.881981 0.64928 0.52704 0.706548 0.9985697 0 0.8144357 FALSE 4.06065e-06 ENSE00002326736_009 ENSE00002326736 009 3 186790596 186790765 + 41 99 30 G A 186790656 4128 61 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCACTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT 187072807 187072977 187072867 187072868 187072868 exon 20 0.2020202 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCACTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT mutant NA NA NA NA NA 47 143 0.9991211 0.9997334 0.9994273 0.9215809 0.9575973 0.9771321 0.992321 NA NA 0.02198897 0.007412435 0.9395891 0.9847266 NA 0.0147007 NA FALSE NA 0.704 1.459 . missense_variant MODERATE ST6GAL1 HGNC 10860 ENST00000457772 5/7 rs371896958 1 tolerated(1) benign(0.005) NA A:0 A:0.0001 CGC G,A 1.647e-05 3:187072868 ST6GAL1 HGNC Symbol protein_coding 148068 ENSG00000073849 ENSE00003673469 missense_variant 1.30499 0.64611 0.35493 0.706548 0.7244448 0 0.8144357 FALSE 2.03032e-05 ENSE00002326736_016 ENSE00002326736 016 3 186790596 186790765 + 41 99 30 A T 186790693 4135 98 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTTATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT 187072807 187072977 187072904 187072905 187072905 exon -43 0.5757576 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTTATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT mutant NA NA NA NA NA 64 183 1 1 1 0.9215809 0.9575973 0.9771321 0.992321 NA NA 0.02286788 0.007679011 0.9395891 0.9847266 NA 0.01527344 NA FALSE NA 0.248 -0.361 rs149834289 synonymous_variant LOW ST6GAL1 HGNC 10860 ENST00000457772 5/7 rs149834289 1 T:0.0006 T:0.0015 T:0.0014 NA T:0 T:0 T:0 T:0.0007 T:0 TAA A,T 4.118e-05 3:187072905 ST6GAL1 HGNC Symbol protein_coding 148068 ENSG00000073849 ENSE00003673469 synonymous_variant -0.113912 0.72284 0.32379 0.706548 0.7354808 0 0.8144357 FALSE 4.06068e-05 ENSE00002326736_021 ENSE00002326736 021 3 186790596 186790765 + 41 99 30 A G 186790719 4140 124 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCGCTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT 187072807 187072977 187072930 187072931 187072931 exon -17 0.8383838 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCGCTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT mutant NA NA NA NA NA 35 489 0.9988182 1 0.9994091 0.9215809 0.9575973 0.9771321 0.992321 NA NA 0.0216861 0.007679011 0.9395891 0.9847266 NA 0.01468255 NA FALSE NA 1 4.653 rs182664343 missense_variant MODERATE ST6GAL1 HGNC 10860 ENST00000457772 5/7 rs182664343 1 tolerated(0.21) benign(0.18) G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAC A,G 5.765e-05 3:187072931 ST6GAL1 HGNC Symbol protein_coding 148068 ENSG00000073849 ENSE00003673469 missense_variant 1.53591 0.93191 0.90087 0.706548 0.9597557 0 0.8144357 FALSE 4.87333e-05 ENSE00002326736_024 ENSE00002326736 024 3 186790596 186790765 + 41 99 30 G T 186790740 4143 145 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAATTGGGTGTCCGTGGGAAATAGGGGTT 187072807 187072977 187072951 187072952 187072952 downstr_intron 5 1.172414 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAATTGGGTGTCCGTGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT mutant NA NA NA NA NA 185 101 1 1 1 0.9215809 0.9575973 0.9771321 0.992321 NA NA 0.02286788 0.007679011 0.9395891 0.9847266 NA 0.01527344 NA FALSE NA 1 4.959 . splice_region_variant&intron_variant LOW ST6GAL1 HGNC 10860 ENST00000457772 5/6 1 NA AGT G,T 8.236e-06 3:187072952 ST6GAL1 HGNC Symbol protein_coding 148068 ENSG00000073849 ENSE00003673469 splice_region_variant 1.319314 0.94921 0.93876 0.115753 0.8923852 0.977964 0.8144357 FALSE 4.06583e-06 ENSE00002326736_025 ENSE00002326736 025 3 186790596 186790765 + 41 99 30 C T 186790749 4144 154 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCTGTGGGAAATAGGGGTT 187072807 187072977 187072960 187072961 187072961 downstr_intron 14 1.482759 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCTGTGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT mutant NA NA NA NA NA 251 1738 0.991888 0.9983183 0.9951031 0.9215809 0.9575973 0.9771321 0.992321 NA NA 0.0147559 0.005997287 0.9395891 0.9847266 NA 0.01037659 NA FALSE NA 0 -0.061 . intron_variant MODIFIER ST6GAL1 HGNC 10860 ENST00000457772 5/6 rs200986291 1 T:0.0004 T:0 T:0 NA T:0 T:0.001 T:0.001 T:0.0002 T:0.0002 CCG C,T 0.0001812 3:187072961 ST6GAL1 HGNC Symbol protein_coding 148068 ENSG00000073849 ENSE00003673469 intron_variant -0.077311 0.17702 0.07132 0.115753 0.5109817 0.113323 0.8144357 FALSE 0.000174916 ENSE00002326736_026 ENSE00002326736 026 3 186790596 186790765 + 41 99 30 G A 186790750 4145 155 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCATGGGAAATAGGGGTT 187072807 187072977 187072961 187072962 187072962 downstr_intron 15 1.517241 TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCATGGGAAATAGGGGTT TATGAATGTTCAAGCGACAGCTTATCTCTTTCTTCCTGCAGTTGGTTACCACAGAGAAGCGCTTCCTCAAAGACAGTTTGTACAATGAAGGAATCCTAATTGTATGGGACCCATCTGTATACCACTCAGATATCCCAAAGGTAAGTGGGTGTCCGTGGGAAATAGGGGTT mutant NA NA NA NA NA 334 261 0.9997533 1 0.9998767 0.9215809 0.9575973 0.9771321 0.992321 NA NA 0.02262119 0.007679011 0.9395891 0.9847266 NA 0.0151501 NA FALSE NA 0 -2.143 . intron_variant MODIFIER ST6GAL1 HGNC 10860 ENST00000457772 5/6 rs370229759 1 NA A:0.0002 A:0 CGT G,A 2.471e-05 3:187072962 ST6GAL1 HGNC Symbol protein_coding 148068 ENSG00000073849 ENSE00003673469 intron_variant -0.362473 0.12472 0.02027 0.115753 0.3615773 0.113323 0.8144357 FALSE 1.22052e-05 ENSE00002327006_000 ENSE00002327006 000 19 41916781 41916950 + 47 87 36 NA NA NA NA NA TTCCAGCCCCCCGCCCCTAGTCCTGTCCCCACGCACCTGCCGCTGAGACTCATAGAGGATGCGGTCCATGGTGTTAAGCAGTGTCATGCTCTTGTAGAGCTTCAGCACCTTCTCCTTCGGCAGCTGCGGGTGGAGGCACAGATAGACGTGGGGCAGTTGGGACCAGAGAG 41410875 41411045 NA NA NA NA NA NA CTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAA CTCTCTGGTCCCAACTGCCCCACGTCTATCTGTGCCTCCACCCGCAGCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGTGCGTGGGGACAGGACTAGGGGCGGGGGGCTGGAA natural 136 160 0.85 0.85 0.85 390 69 0.9299405 0.9698234 0.949882 0.85 0.85 0.9299405 0.9698234 0 0 0 0 0.85 0.949882 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003582058 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00002327016_000 ENSE00002327016 000 3 169863181 169863350 - 30 99 41 NA NA NA NA NA CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 NA NA NA NA NA NA CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC natural 17 15 0.998283 0.926044 0.9621635 4615 6645 0.9808302 0.9967898 0.98881 0.998283 0.926044 0.9808302 0.9967898 0 0 0 0 0.9621635 0.98881 0 0 0 FALSE FALSE NA NA NA NA NA PHC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHC3 NA NA NA ENSG00000173889 ENSE00003654096 NA NA NA NA NA NA NA 0.9999555 TRUE NA ENSE00002327016_001 ENSE00002327016 001 3 169863181 169863350 - 30 99 41 T C 169863192 3553 159 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCGTAATGTGTTAC 170145392 170145562 170145403 170145404 170145404 downstr_intron 19 1.655172 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCGTAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 34 123 0.9803069 1 0.9901535 0.998283 0.926044 0.9808302 0.9967898 NA NA -0.0005232662 0.003210192 0.9621635 0.98881 NA 0.001343463 NA FALSE NA 0.312 0.02 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA ATG T,C 3.307e-05 3:170145404 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 intron_variant 2.220504 0.95325 0.28275 0 0.6272085 0.447193 0.9999555 TRUE 2.0694e-05 ENSE00002327016_002 ENSE00002327016 002 3 169863181 169863350 - 30 99 41 C G 169863202 3554 149 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTCTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145413 170145414 170145414 downstr_intron 9 1.310345 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTCTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 182 291 1 0.9996067 0.9998033 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01916981 0.002816887 0.9621635 0.98881 NA 0.01099335 NA FALSE NA 0.999 2.379 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA ACA C,G 8.267e-06 3:170145414 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 intron_variant 2.617277 0.95329 0.95926 0 0.6572308 0.390612 0.9999555 TRUE 4.09229e-06 ENSE00002327016_004 ENSE00002327016 004 3 169863181 169863350 - 30 99 41 G A 169863242 3556 109 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATTGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145453 170145454 170145454 exon -32 0.6868687 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATTGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 296 748 0.9925384 0.9965795 0.994559 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01170826 -0.0002102837 0.9621635 0.98881 NA 0.005748987 NA FALSE NA 1 6.723 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 rs548261835 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 2.481e-05 3:170145454 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 missense_variant 4.073182 0.99204 0.99555 0.722319 0.9968306 0 0.9999555 TRUE 1.21984e-05 ENSE00002327016_005 ENSE00002327016 005 3 169863181 169863350 - 30 99 41 T C 169863244 3557 107 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCGTCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145455 170145456 170145456 exon -34 0.6666667 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCGTCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 121 327 0.9987311 0.9837043 0.9912177 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01790093 -0.01308548 0.9621635 0.98881 NA 0.002407729 NA FALSE NA 1 0.437 rs183522941 downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 rs183522941 1 NA ATG T,C 8.269e-06 3:170145456 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 synonymous_variant 0.539167 0.96438 0.83333 0.722319 0.7053958 0 0.9999555 TRUE 1.2198e-05 ENSE00002327016_006 ENSE00002327016 006 3 169863181 169863350 - 30 99 41 C T 169863247 3558 104 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCATCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145458 170145459 170145459 exon -37 0.6363636 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCATCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 10 453 0.9914674 0.991505 0.9914862 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01063722 -0.005284818 0.9621635 0.98881 NA 0.002676201 NA FALSE NA 1 2.731 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA ACG C,T 1.654e-05 3:170145459 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 synonymous_variant 2.648043 0.97571 0.63396 0.722319 0.775635 0 0.9999555 TRUE 2.0332e-05 ENSE00002327016_007 ENSE00002327016 007 3 169863181 169863350 - 30 99 41 G A 169863248 3559 103 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTTGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145459 170145460 170145460 exon -38 0.6262626 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTTGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 91 1478 0.9881165 0.9915243 0.9898204 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.007286336 -0.005265469 0.9621635 0.98881 NA 0.001010434 NA FALSE NA 1 6.566 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA CGA G,A 1.654e-05 3:170145460 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 missense_variant 6.022865 0.99204 0.99541 0.722319 0.9993074 0 0.9999555 TRUE 8.13173e-06 ENSE00002327016_008 ENSE00002327016 008 3 169863181 169863350 - 30 99 41 C T 169863250 3560 101 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCATCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145461 170145462 170145462 exon -40 0.6060606 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCATCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 172 323 0.9997605 1 0.9998802 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.0189303 0.003210192 0.9621635 0.98881 NA 0.01107025 NA FALSE NA 1 1.723 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA ACG C,T 1.654e-05 3:170145462 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 synonymous_variant 2.623695 0.96919 0.83056 0.722319 0.7746539 0 0.9999555 TRUE 1.21997e-05 ENSE00002327016_010 ENSE00002327016 010 3 169863181 169863350 - 30 99 41 A G 169863275 3562 76 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGCACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145486 170145487 170145487 exon 35 0.3535354 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGCACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 234 157 1 1 1 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01916981 0.003210192 0.9621635 0.98881 NA 0.01119 NA FALSE NA 1 7.876 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA TAC A,G 8.272e-06 3:170145487 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 missense_variant 4.131922 0.98515 0.99132 0.722319 0.9977368 0 0.9999555 TRUE 4.06964e-06 ENSE00002327016_011 ENSE00002327016 011 3 169863181 169863350 - 30 99 41 C T 169863276 3563 75 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTATACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145487 170145488 170145488 exon 34 0.3434343 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTATACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 521 278 0.9975584 1 0.9987792 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01672825 0.003210192 0.9621635 0.98881 NA 0.009969223 NA FALSE NA 1 4.85 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA ACA C,T 8.272e-06 3:170145488 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 missense_variant 5.012265 0.98857 0.98134 0.722319 0.9988585 0 0.9999555 TRUE 4.06974e-06 ENSE00002327016_012 ENSE00002327016 012 3 169863181 169863350 - 30 99 41 A G 169863280 3564 71 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCCGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145491 170145492 170145492 exon 30 0.3030303 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCCGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 732 2356 1 0.9996252 0.9998126 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01916981 0.002835401 0.9621635 0.98881 NA 0.01100261 NA FALSE NA 1 1.629 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA CAG A,G 8.271e-06 3:170145492 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 missense_variant 0.718609 0.97445 0.92593 0.722319 0.8435765 0 0.9999555 TRUE 4.06855e-06 ENSE00002327016_013 ENSE00002327016 013 3 169863181 169863350 - 30 99 41 G A 169863295 3565 56 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCTGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145506 170145507 170145507 exon 15 0.1515152 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCTGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 611 834 0.955551 0.9979294 0.9767402 0.998283 0.926044 0.9808302 0.9967898 NA NA -0.0252792 0.001139552 0.9621635 0.98881 NA -0.01206982 NA FALSE NA 1 0.919 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 COSM4115155&COSM4115154 1 NA CGG G,A 1.654e-05 3:170145507 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 missense_variant 1.42925 0.96209 0.63479 0.722319 0.8003349 0 0.9999555 TRUE 8.1648e-06 ENSE00002327016_014 ENSE00002327016 014 3 169863181 169863350 - 30 99 41 T C 169863298 3566 53 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACGCCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145509 170145510 170145510 exon 12 0.1212121 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACGCCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 79 344 0.9994779 1 0.999739 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01864772 0.003210192 0.9621635 0.98881 NA 0.01092895 NA FALSE NA 0.999 0.387 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA GTG T,C 8.272e-06 3:170145510 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 missense_variant 0.170147 0.95174 0.83657 0.722319 0.7549599 0 0.9999555 TRUE 8.20203e-06 ENSE00002327016_015 ENSE00002327016 015 3 169863181 169863350 - 30 99 41 A G 169863316 3567 35 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCCGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145527 170145528 170145528 upstr_intron -7 -0.1463415 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCCGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 217 356 0.9906231 1 0.9953116 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.009792919 0.003210192 0.9621635 0.98881 NA 0.006501555 NA FALSE NA 1 6.035 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA CAG A,G 5.791e-05 3:170145528 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 splice_region_variant 1.48443 0.98216 0.96599 0.062308 0.9283883 0.952409 0.9999555 TRUE 2.89001e-05 ENSE00002327016_016 ENSE00002327016 016 3 169863181 169863350 - 30 99 41 G A 169863317 3568 34 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTTTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145528 170145529 170145529 upstr_intron -8 -0.1707317 CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTTTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 340 67 1 1 1 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01916981 0.003210192 0.9621635 0.98881 NA 0.01119 NA FALSE NA 1 3.688 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA AGA G,A 9.101e-05 3:170145529 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 splice_region_variant 1.886435 0.98633 0.96742 0.062308 0.9466788 0.971231 0.9999555 TRUE 7.00673e-05 ENSE00002327016_017 ENSE00002327016 017 3 169863181 169863350 - 30 99 41 A G 169863332 3569 19 CTTTTGTCTTAGGGTATTCTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 170145543 170145544 170145544 upstr_intron -23 -0.5365854 CTTTTGTCTTAGGGTATTCTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC mutant NA NA NA NA NA 3054 356 0.9992968 1 0.9996484 0.998283 0.926044 0.9808302 0.9967898 NA NA 0.01846659 0.003210192 0.9621635 0.98881 NA 0.01083839 NA FALSE NA 0.996 1.356 . downstream_gene_variant MODIFIER PHC3 HGNC 15682 ENST00000474275 1 NA AAA A,G 2.482e-05 3:170145544 PHC3 HGNC Symbol protein_coding 95017 ENSG00000173889 ENSE00003654096 intron_variant 2.400088 0.96553 0.90759 0.062308 0.7947781 0.356613 0.9999555 TRUE 1.66779e-05 ENSE00002327016_BRK ENSE00002327016 BRK 3 169863181 169863350 - 30 99 41 A,G; T,T NA NA NA CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACTTCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGCCGAGCTTGTCTAGCTTCATAATGTGTTAC 170145392 170145562 NA NA NA NA NA NA CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACTTCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGCCGAGCTTGTCTAGCTTCATAATGTGTTAC CTTTTGTCTTAGGGTATTTTTTTGGTTTTCTGTCTGTACAGCTGATTTTCACACCCGCTACCACTGTGGCTGCTGTACAGTCTGACATTCCTGTTGTCTCGTCGTCATCGTCATCTTCCTGTCAGTCTGCAGCTACTCAGGTGAGCTTGTCTAGCTTCATAATGTGTTAC control NA NA NA NA NA 30 1800 0.05577804 0.00903113 0.03240459 0.998283 0.926044 0.9808302 0.9967898 NA NA -0.9250521 -0.9877587 0.9621635 0.98881 NA -0.9564054 NA TRUE NA NA NA NA NA NA PHC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PHC3 NA NA NA ENSG00000173889 ENSE00003654096 NA NA NA NA NA NA NA 0.9999555 TRUE NA ENSE00002327510_000 ENSE00002327510 000 5 147021220 147021389 - 51 57 62 NA NA NA NA NA ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 NA NA NA NA NA NA CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT natural NA NA NA NA NA 1910 1515 0.9547357 1 0.9773679 NA NA 0.9547357 1 NA NA 0 0 NA 0.9773679 NA 0 NA FALSE NA NA NA NA NA NA JAKMIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP2 NA NA NA ENSG00000176049 ENSE00003498378 NA NA NA NA NA NA NA 0.9999365 TRUE NA ENSE00002327510_BRK ENSE00002327510 BRK 5 147021220 147021389 - 51 57 62 A,G; T,T NA NA NA ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTGGCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCAAGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 NA NA NA NA NA NA CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCTTGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGCCAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT control NA NA NA NA NA 182 531 0 0 0 NA NA 0.9547357 1 NA NA -0.9547357 -1 NA 0.9773679 NA -0.9773679 NA TRUE NA NA NA NA NA NA JAKMIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP2 NA NA NA ENSG00000176049 ENSE00003498378 NA NA NA NA NA NA NA 0.9999365 TRUE NA ENSE00002328047_000 ENSE00002328047 000 2 96954736 96954905 - 39 81 50 NA NA NA NA NA TCCCTCCTCGGCCACAAGGCTTTCCCTTGACCTTTTCCTCCTTGTGGCAGGAGGAGAAGCTGGAGCTGCAGAAGTTGCTGGAGAGGGTGCCTATCCCTGTAAAGGAGAGCATTGAGGAACCCAGTGCTAAGGTGAGCTCCTCTCCTCTTTGCTTTGATAAGGATGAGGAT 96288997 96289167 NA NA NA NA NA NA TCCCTCCTCGGCCACAAGGCTTTCCCTTGACCTTTTCCTCCTTGTGGCAGGAGGAGAAGCTGGAGCTGCAGAAGTTGCTGGAGAGGGTGCCTATCCCTGTAAAGGAGAGCATTGAGGAACCCAGTGCTAAGGTGAGCTCCTCTCCTCTTTGCTTTGATAAGGATGAGGAT TCCCTCCTCGGCCACAAGGCTTTCCCTTGACCTTTTCCTCCTTGTGGCAGGAGGAGAAGCTGGAGCTGCAGAAGTTGCTGGAGAGGGTGCCTATCCCTGTAAAGGAGAGCATTGAGGAACCCAGTGCTAAGGTGAGCTCCTCTCCTCTTTGCTTTGATAAGGATGAGGAT natural 161 423 0.8655509 0.9362042 0.9008775 3931 1281 0.8187183 0.9479994 0.8833588 0.8655509 0.9362042 0.8187183 0.9479994 0 0 0 0 0.9008775 0.8833588 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003581227 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002328082_000 ENSE00002328082 000 3 9843303 9843472 + 42 96 32 NA NA NA NA NA GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 NA NA NA NA NA NA GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC natural 11 12 0.9970208 0.9723905 0.9847057 2818 2749 0.9807111 0.929183 0.954947 0.9970208 0.9723905 0.9807111 0.929183 0 0 0 0 0.9847057 0.954947 0 0 0 FALSE FALSE NA NA NA NA NA ARPC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARPC4 NA NA NA ENSG00000241553 ENSE00003709822 NA NA NA NA NA NA NA 0.9377988 TRUE NA ENSE00002328082_BRK ENSE00002328082 BRK 3 9843303 9843472 + 42 96 32 A,G; T,T NA NA NA GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCTTGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGCCGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 NA NA NA NA NA NA GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCTTGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGCCGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC control 140 47 0 0 0 81 696 0 0 0 0.9970208 0.9723905 0.9807111 0.929183 -0.9970208 -0.9723905 -0.9807111 -0.929183 0.9847057 0.954947 -0.9847057 -0.954947 0.02975866 TRUE TRUE NA NA NA NA NA ARPC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARPC4 NA NA NA ENSG00000241553 ENSE00003709822 NA NA NA NA NA NA NA 0.9377988 TRUE NA ENSE00002328107_000 ENSE00002328107 000 5 141026670 141026839 - 32 96 42 NA NA NA NA NA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 NA NA NA NA NA NA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA natural 508 634 0.8258915 0.8360327 0.8309621 1999 1412 0.7407621 0.6938228 0.7172924 0.8258915 0.8360327 0.7407621 0.6938228 0 0 0 0 0.8309621 0.7172924 0 0 0 FALSE FALSE NA NA NA NA NA FCHSD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCHSD1 NA NA NA ENSG00000197948 ENSE00003480229 NA NA NA NA NA NA NA 1.923508e-16 FALSE NA ENSE00002328107_001 ENSE00002328107 001 5 141026670 141026839 - 32 96 42 C A 141026684 1403 156 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTTTTGGAACCAGGCCA 141647102 141647272 141647116 141647117 141647117 downstr_intron 18 1.580645 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTTTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 94 229 0.9703876 0.9558556 0.9631216 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.2296255 0.2620328 0.8309621 0.7172924 NA 0.2458292 NA FALSE NA 0 -1.652 . intron_variant MODIFIER FCHSD1 HGNC 25463 ENST00000522783 10/19 1 NA ACA C,A 8.285e-06 5:141647117 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 intron_variant 1.515177 0.12043 0.01088 0.184171 0.7927829 0.280792 1.923508e-16 FALSE NA ENSE00002328107_002 ENSE00002328107 002 5 141026670 141026839 - 32 96 42 C T 141026699 1404 141 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTAAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647131 141647132 141647132 downstr_intron 3 1.096774 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTAAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 26 400 0.9879966 0.9707283 0.9793625 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.2472345 0.2769055 0.8309621 0.7172924 NA 0.26207 NA FALSE NA 1 0.996 . splice_region_variant&intron_variant LOW FCHSD1 HGNC 25463 ENST00000522783 10/19 1 NA TCA C,T 8.279e-06 5:141647132 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 splice_region_variant 2.158933 0.9688 0.63389 0.184171 0.9123921 0.556346 1.923508e-16 FALSE NA ENSE00002328107_003 ENSE00002328107 003 5 141026670 141026839 - 32 96 42 T C 141026703 1405 137 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCGGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647135 141647136 141647136 exon -2 0.9895833 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCGGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 1247 388 0.3577447 0.1701773 0.263961 0.8258915 0.8360327 0.7407621 0.6938228 NA NA -0.3830174 -0.5236455 0.8309621 0.7172924 NA -0.4533315 NA FALSE NA 1 2.301 . missense_variant&splice_region_variant MODERATE FCHSD1 HGNC 25463 ENST00000522783 10/20 1 tolerated(0.21) benign(0.297) NA CTG T,C 2.484e-05 5:141647136 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 missense_variant 1.679846 0.96578 0.90982 0.732398 0.996483 0 1.923508e-16 FALSE 3.0291e-05 ENSE00002328107_004 ENSE00002328107 004 5 141026670 141026839 - 32 96 42 T C 141026714 1406 126 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCGGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647146 141647147 141647147 exon -13 0.875 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCGGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 44 361 0.9964987 0.9990455 0.9977721 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.2557366 0.3052228 0.8309621 0.7172924 NA 0.2804797 NA FALSE NA 0.928 -0.326 . synonymous_variant LOW FCHSD1 HGNC 25463 ENST00000522783 10/20 1 NA CTG T,C 3.311e-05 5:141647147 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 synonymous_variant 0.768795 0.95106 0.58965 0.732398 0.8088714 0 1.923508e-16 FALSE NA ENSE00002328107_006 ENSE00002328107 006 5 141026670 141026839 - 32 96 42 C T 141026720 1408 120 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAACCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647152 141647153 141647153 exon -19 0.8125 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAACCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 616 292 0.8 0.7931793 0.7965897 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.05923789 0.09935654 0.8309621 0.7172924 NA 0.07929721 NA FALSE NA 1 2.245 . synonymous_variant LOW FCHSD1 HGNC 25463 ENST00000522783 10/20 1 NA GCT C,T 8.277e-06 5:141647153 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 synonymous_variant 1.399392 0.98819 0.94509 0.732398 0.8240781 0 1.923508e-16 FALSE NA ENSE00002328107_007 ENSE00002328107 007 5 141026670 141026839 - 32 96 42 G A 141026731 1409 109 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTTAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647163 141647164 141647164 exon -30 0.6979167 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTTAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 15 275 0 0 0 0.8258915 0.8360327 0.7407621 0.6938228 NA NA -0.7407621 -0.6938228 0.8309621 0.7172924 NA -0.7172924 NA TRUE NA 1 4.308 . stop_gained HIGH FCHSD1 HGNC 25463 ENST00000522783 10/20 1 NA HC TGA G,A 1.655e-05 5:141647164 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 stop_gained 11.17347 0.98551 0.94252 0.732398 0.9976221 0 1.923508e-16 FALSE 3.34554e-05 ENSE00002328107_008 ENSE00002328107 008 5 141026670 141026839 - 32 96 42 G T 141026736 1410 104 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCAACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647168 141647169 141647169 exon -35 0.6458333 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCAACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 56 109 0.95 0.9772581 0.963629 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.2092379 0.2834353 0.8309621 0.7172924 NA 0.2463366 NA FALSE NA 1 3.296 . missense_variant MODERATE FCHSD1 HGNC 25463 ENST00000522783 10/20 rs201297893 1 tolerated(0.38) probably_damaging(0.949) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TGG G,T 7.449e-05 5:141647169 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 missense_variant 4.021298 0.97057 0.9264 0.732398 0.9536482 0 1.923508e-16 FALSE 3.76415e-05 ENSE00002328107_013 ENSE00002328107 013 5 141026670 141026839 - 32 96 42 T C 141026763 1415 77 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCGGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647195 141647196 141647196 exon 35 0.3645833 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCGGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 386 84 0.9971946 0.9829474 0.990071 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.2564325 0.2891246 0.8309621 0.7172924 NA 0.2727785 NA FALSE NA 1 3.262 . missense_variant MODERATE FCHSD1 HGNC 25463 ENST00000522783 10/20 1 deleterious(0.02) benign(0.08) NA CTG T,C 8.277e-06 5:141647196 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 missense_variant 2.908023 0.97274 0.91179 0.732398 0.9900874 0 1.923508e-16 FALSE NA ENSE00002328107_014 ENSE00002328107 014 5 141026670 141026839 - 32 96 42 C G 141026771 1416 69 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTCTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647203 141647204 141647204 exon 27 0.28125 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTCTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 11 75 0.8 0.8 0.8 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.05923789 0.1061772 0.8309621 0.7172924 NA 0.08270755 NA FALSE NA 0.996 0.269 . synonymous_variant LOW FCHSD1 HGNC 25463 ENST00000522783 10/20 1 NA ACA C,G 1.656e-05 5:141647204 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 synonymous_variant 1.445576 0.93128 0.18705 0.732398 0.8004957 0 1.923508e-16 FALSE 1.69195e-05 ENSE00002328107_015 ENSE00002328107 015 5 141026670 141026839 - 32 96 42 A C 141026772 1417 68 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCGGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647204 141647205 141647205 exon 26 0.2708333 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCGGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 1161 652 0.9135723 0.9376981 0.9256352 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.1728101 0.2438753 0.8309621 0.7172924 NA 0.2083427 NA FALSE NA 1 2.869 rs183035645 missense_variant MODERATE FCHSD1 HGNC 25463 ENST00000522783 10/20 rs183035645 1 deleterious(0.03) benign(0.032) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0013 C:0 CAG A,C 0.0001159 5:141647205 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 missense_variant 1.624544 0.94772 0.81268 0.732398 0.9946979 0 1.923508e-16 FALSE 0.000122704 ENSE00002328107_016 ENSE00002328107 016 5 141026670 141026839 - 32 96 42 G T 141026785 1418 55 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGAAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647217 141647218 141647218 exon 13 0.1354167 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGAAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 555 46 0.7679631 0.8 0.7839816 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.02720103 0.1061772 0.8309621 0.7172924 NA 0.06668912 NA FALSE NA 1 1.757 . missense_variant MODERATE FCHSD1 HGNC 25463 ENST00000522783 10/20 rs186315539 1 tolerated(0.29) benign(0.218) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 T:0.0011 T:0 TGC G,T 2.484e-05 5:141647218 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 missense_variant 2.017717 0.96988 0.86122 0.732398 0.9751323 0 1.923508e-16 FALSE 2.59307e-05 ENSE00002328107_018 ENSE00002328107 018 5 141026670 141026839 - 32 96 42 G A 141026804 1420 36 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAATCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647236 141647237 141647237 upstr_intron -7 -0.1428571 TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAATCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 292 189 0.9340952 0.88941 0.9117526 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.1933331 0.1955873 0.8309621 0.7172924 NA 0.1944602 NA FALSE NA 0 0.284 . splice_region_variant&intron_variant LOW FCHSD1 HGNC 25463 ENST00000522783 9/19 1 NA GGT G,A 8.284e-06 5:141647237 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 splice_region_variant 1.454153 0.25485 0.10015 0.062308 0.8744196 0.254749 1.923508e-16 FALSE NA ENSE00002328107_019 ENSE00002328107 019 5 141026670 141026839 - 32 96 42 G A 141026809 1421 31 TGAGTCAGTGAATGAGTGACTTTGACTTTTTCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647241 141647242 141647242 upstr_intron -12 -0.2619048 TGAGTCAGTGAATGAGTGACTTTGACTTTTTCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 698 384 0.9806811 0.9864507 0.9835659 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.239919 0.2926279 0.8309621 0.7172924 NA 0.2662734 NA FALSE NA 0 -0.073 . intron_variant MODIFIER FCHSD1 HGNC 25463 ENST00000522783 9/19 1 NA GGA G,A 1.657e-05 5:141647242 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 intron_variant 1.920328 0.13554 0.00869 0.062308 0.818614 0.287822 1.923508e-16 FALSE NA ENSE00002328107_021 ENSE00002328107 021 5 141026670 141026839 - 32 96 42 C A 141026826 1423 14 TGAGTCAGTGAATTAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 141647258 141647259 141647259 upstr_intron -29 -0.6666667 TGAGTCAGTGAATTAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA mutant NA NA NA NA NA 241 90 0.8006684 0.8 0.8003342 0.8258915 0.8360327 0.7407621 0.6938228 NA NA 0.05990629 0.1061772 0.8309621 0.7172924 NA 0.08304175 NA FALSE NA 0.002 0.016 . intron_variant MODIFIER FCHSD1 HGNC 25463 ENST00000522783 9/19 1 NA TCA C,A 8.296e-06 5:141647259 FCHSD1 HGNC Symbol protein_coding 12117 ENSG00000197948 ENSE00003480229 intron_variant 1.29758 0.21552 0.04114 0.062308 0.8125469 0.170288 1.923508e-16 FALSE 4.97706e-06 ENSE00002328107_BRK ENSE00002328107 BRK 5 141026670 141026839 - 32 96 42 A,G; T,T NA NA NA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTTTGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGCCGAGATCTTCCTGCTTGTTGGAACCAGGCCA 141647102 141647272 NA NA NA NA NA NA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTTTGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGCCGAGATCTTCCTGCTTGTTGGAACCAGGCCA TGAGTCAGTGAATGAGTGACTTTGACTTTTCCCAACCCCTAGGTAAGCTGGGAGCAAGACCTGAAGCTGTTTCTTCAGGAGCCTGGTGTATTTTCCCCCACCCCACCTCAGCAGTTTCAGCCAGCAGGGACTGATCAGGTGAGATCTTCCTGCTTGTTGGAACCAGGCCA control NA NA NA NA NA 352 538 0 0 0 0.8258915 0.8360327 0.7407621 0.6938228 NA NA -0.7407621 -0.6938228 0.8309621 0.7172924 NA -0.7172924 NA TRUE NA NA NA NA NA NA FCHSD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCHSD1 NA NA NA ENSG00000197948 ENSE00003480229 NA NA NA NA NA NA NA 1.923508e-16 FALSE NA ENSE00002328329_000 ENSE00002328329 000 2 242401893 242402062 + 45 90 35 NA NA NA NA NA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 NA NA NA NA NA NA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA natural 181 371 0.9093213 0.8160637 0.8626925 2193 3975 0.6936871 0.8157144 0.7547008 0.9093213 0.8160637 0.6936871 0.8157144 0 0 0 0 0.8626925 0.7547008 0 0 0 FALSE FALSE NA NA NA NA NA FARP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FARP2 NA NA NA ENSG00000006607 ENSE00003462692 NA NA NA NA NA NA NA 1.975365e-20 FALSE NA ENSE00002328329_001 ENSE00002328329 001 2 242401893 242402062 + 45 90 35 G A 242401905 5967 13 CCCATGTCCCAGAGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462489 241462490 241462490 upstr_intron -33 -0.7111111 CCCATGTCCCAGAGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 76 518 0.9239462 0.829744 0.8768451 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2302591 0.01402957 0.8626925 0.7547008 NA 0.1221443 NA FALSE NA 0 -2.571 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs372661009 1 NA GGG G,A 5.765e-05 2:241462490 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 intron_variant 0.057545 0.09639 0.00446 0.078448 0.5800633 0.0527017 1.975365e-20 FALSE 5.30374e-05 ENSE00002328329_002 ENSE00002328329 002 2 242401893 242402062 + 45 90 35 C T 242401908 5968 16 CCCATGTCCCAGGGATGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462492 241462493 241462493 upstr_intron -30 -0.6444444 CCCATGTCCCAGGGATGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 1553 781 0.8768 0.9945055 0.9356527 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1831128 0.1787911 0.8626925 0.7547008 NA 0.180952 NA FALSE NA 0 -0.199 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs370690777 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0014 T:0 ACG C,T 7.413e-05 2:241462493 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 intron_variant -0.146922 0.10535 0.0084 0.078448 0.6718436 0.0527017 1.975365e-20 FALSE 6.52555e-05 ENSE00002328329_003 ENSE00002328329 003 2 242401893 242402062 + 45 90 35 G A 242401909 5969 17 CCCATGTCCCAGGGACACACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462493 241462494 241462494 upstr_intron -29 -0.6222222 CCCATGTCCCAGGGACACACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 187 156 0.9808364 0.9690457 0.974941 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2871492 0.1533313 0.8626925 0.7547008 NA 0.2202403 NA FALSE NA 0 -4.15 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs533833152 1 NA CGC G,A 1.647e-05 2:241462494 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 intron_variant -0.1208 0.09647 0.00365 0.078448 0.6216618 0.0931453 1.975365e-20 FALSE 1.22433e-05 ENSE00002328329_004 ENSE00002328329 004 2 242401893 242402062 + 45 90 35 A C 242401911 5970 19 CCCATGTCCCAGGGACGCCCACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462495 241462496 241462496 upstr_intron -27 -0.5777778 CCCATGTCCCAGGGACGCCCACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 3274 92 0.9623874 0.8926832 0.9275353 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2687003 0.07696881 0.8626925 0.7547008 NA 0.1728345 NA FALSE NA 0 -2.567 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs374346479 1 NA C:0 C:0.0002 CAC A,C 0.0004283 2:241462496 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 intron_variant -0.41891 0.0548 0.00117 0.078448 0.3655609 0.0842704 1.975365e-20 FALSE 0.00031803 ENSE00002328329_005 ENSE00002328329 005 2 242401893 242402062 + 45 90 35 A G 242401913 5971 21 CCCATGTCCCAGGGACGCACGCTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462497 241462498 241462498 upstr_intron -25 -0.5333333 CCCATGTCCCAGGGACGCACGCTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 1809 1226 0.7996005 0.800324 0.7999623 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1059134 -0.01539038 0.8626925 0.7547008 NA 0.0452615 NA FALSE NA 0 -0.261 rs188710248 upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs188710248 1 G:0.0022 G:0.0068 G:0.0029 NA G:0 G:0 G:0 G:0.0052 G:0 CAC A,G 0.0006013 2:241462498 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 intron_variant 0.082222 0.06702 8e-04 0.078448 0.5593705 0.046875 1.975365e-20 FALSE 0.000549428 ENSE00002328329_009 ENSE00002328329 009 2 242401893 242402062 + 45 90 35 A G 242401936 5975 44 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCGGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462520 241462521 241462521 upstr_intron -2 -0.02222222 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCGGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 1550 4837 0.004150102 0.01473675 0.009443425 0.9093213 0.8160637 0.6936871 0.8157144 NA NA -0.689537 -0.8009776 0.8626925 0.7547008 NA -0.7452573 NA TRUE NA 1 8.359 rs141636708 upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs141636708 1 NA G:0 G:0.0001 CAG A,G 4.942e-05 2:241462521 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 splice_acceptor_variant 3.989227 0.99464 0.99275 0.162113 0.9933185 0.803154 1.975365e-20 FALSE 3.65482e-05 ENSE00002328329_010 ENSE00002328329 010 2 242401893 242402062 + 45 90 35 C T 242401938 5976 46 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGTGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462522 241462523 241462523 exon 1 0.01111111 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGTGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 1280 729 0.8108706 0.8692608 0.8400657 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1171834 0.05354646 0.8626925 0.7547008 NA 0.08536494 NA FALSE NA 0.03 -0.074 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 1 NA GCG C,T 8.236e-06 2:241462523 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant 3.488956 0.32451 0.07475 0.615465 0.9746349 0 1.975365e-20 FALSE 8.12189e-06 ENSE00002328329_012 ENSE00002328329 012 2 242401893 242402062 + 45 90 35 C T 242401940 5978 48 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGTGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462524 241462525 241462525 exon 3 0.03333333 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGTGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 13 504 0.8123246 0.8163982 0.8143614 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1186375 0.0006838285 0.8626925 0.7547008 NA 0.05966066 NA FALSE NA 0 -0.132 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs371395049 1 NA T:0.0002 T:0 GCG C,T 4.118e-05 2:241462525 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 splice_region_variant 1.149987 0.17203 0.05839 0.615465 0.7845225 0 1.975365e-20 FALSE 2.43643e-05 ENSE00002328329_013 ENSE00002328329 013 2 242401893 242402062 + 45 90 35 G A 242401941 5979 49 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCATGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462525 241462526 241462526 exon 4 0.04444444 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCATGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 575 730 0.9397201 0.9615143 0.9506172 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2460329 0.1457999 0.8626925 0.7547008 NA 0.1959164 NA FALSE NA 0 -0.696 rs141826550 upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs141826550 1 NA A:0.0002 A:0 CGT G,A 2.471e-05 2:241462526 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant -0.221209 0.14021 0.01975 0.615465 0.7836853 0 1.975365e-20 FALSE 2.43653e-05 ENSE00002328329_014 ENSE00002328329 014 2 242401893 242402062 + 45 90 35 C T 242401945 5980 53 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCTTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462529 241462530 241462530 exon 8 0.08888889 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCTTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 1070 499 0.9674707 0.964725 0.9660979 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2737836 0.1490106 0.8626925 0.7547008 NA 0.2113971 NA FALSE NA 0.887 4.251 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 1 NA CCT C,T 9.884e-05 2:241462530 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant 5.629336 0.96611 0.93857 0.615465 0.9984644 0 1.975365e-20 FALSE 9.74556e-05 ENSE00002328329_015 ENSE00002328329 015 2 242401893 242402062 + 45 90 35 A C 242401949 5981 57 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCCGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462533 241462534 241462534 exon 12 0.1333333 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCCGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 251 463 0.9718598 0.9630384 0.9674491 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2781726 0.147324 0.8626925 0.7547008 NA 0.2127483 NA FALSE NA 0 -1.936 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 1 NA CAG A,C 8.236e-06 2:241462534 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 synonymous_variant -0.184871 0.13413 0.0401 0.615465 0.3774943 0 1.975365e-20 FALSE 4.06065e-06 ENSE00002328329_016 ENSE00002328329 016 2 242401893 242402062 + 45 90 35 A G 242401951 5982 59 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGGCGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462535 241462536 241462536 exon 14 0.1555556 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGGCGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 1468 1101 0.8 0.8032231 0.8016115 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1063129 -0.0124913 0.8626925 0.7547008 NA 0.04691078 NA FALSE NA 1 6.585 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 1 NA GAC A,G 8.236e-06 2:241462536 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant 5.7452 0.99464 0.9886 0.615465 0.9977483 0 1.975365e-20 FALSE 4.06068e-06 ENSE00002328329_017 ENSE00002328329 017 2 242401893 242402062 + 45 90 35 C T 242401952 5983 60 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGATGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462536 241462537 241462537 exon 15 0.1666667 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGATGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 216 106 0.9547016 0.9577938 0.9562477 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2610145 0.1420794 0.8626925 0.7547008 NA 0.2015469 NA FALSE NA 0.461 -0.235 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 COSM1018957 1 NA ACG C,T 1.647e-05 2:241462537 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 synonymous_variant 1.854493 0.97179 0.43411 0.615465 0.6762431 0 1.975365e-20 FALSE 2.03036e-05 ENSE00002328329_019 ENSE00002328329 019 2 242401893 242402062 + 45 90 35 T G 242401979 5985 87 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATGCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462563 241462564 241462564 exon 42 0.4666667 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATGCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 923 650 0.883683 0.9959121 0.9397976 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1899959 0.1801977 0.8626925 0.7547008 NA 0.1850968 NA FALSE NA 0.96 -0.125 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs375929823 1 NA G:0.0007 G:0 TTC T,G 3.295e-05 2:241462564 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant 2.918341 0.85559 0.69918 0.615465 0.9753935 0 1.975365e-20 FALSE 3.24857e-05 ENSE00002328329_020 ENSE00002328329 020 2 242401893 242402062 + 45 90 35 C T 242401982 5986 90 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTTGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462566 241462567 241462567 exon 45 0.5 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTTGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 217 89 0.7354731 0.8756209 0.805547 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.04178594 0.05990653 0.8626925 0.7547008 NA 0.05084624 NA FALSE NA 0.056 -1.705 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs367764997 1 NA T:0.0002 T:0 TCG C,T 2.471e-05 2:241462567 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 synonymous_variant 1.931103 0.10425 0.01894 0.615465 0.7383494 0 1.975365e-20 FALSE 2.43643e-05 ENSE00002328329_022 ENSE00002328329 022 2 242401893 242402062 + 45 90 35 G C 242401983 5988 91 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCCCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462567 241462568 241462568 exon -45 0.5111111 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCCCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 259 779 0.8012436 0.8263115 0.8137775 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1075564 0.01059707 0.8626925 0.7547008 NA 0.05907675 NA FALSE NA 0.999 3.62 NA NA NA FARP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:241462568 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant 5.5202 0.98292 0.95654 0.615465 0.9971182 0 1.975365e-20 FALSE 4.06091e-06 ENSE00002328329_023 ENSE00002328329 023 2 242401893 242402062 + 45 90 35 T C 242401985 5989 93 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCCACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462569 241462570 241462570 exon -43 0.5333333 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCCACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 269 174 1 0.9980069 0.9990035 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.3063129 0.1822925 0.8626925 0.7547008 NA 0.2443027 NA FALSE NA 0.002 -1.977 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 1 NA CTA T,C 8.236e-06 2:241462570 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 synonymous_variant 0.67286 0.37522 0.02841 0.615465 0.48383 0 1.975365e-20 FALSE 8.12143e-06 ENSE00002328329_025 ENSE00002328329 025 2 242401893 242402062 + 45 90 35 A G 242401997 5991 105 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACGTACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462581 241462582 241462582 exon -31 0.6666667 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACGTACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 1166 1741 0.8157769 0.8034649 0.8096209 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1220898 -0.01224947 0.8626925 0.7547008 NA 0.05492014 NA FALSE NA 0 -3.664 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 1 NA CAT A,G 8.236e-06 2:241462582 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 synonymous_variant 0.241817 0.06302 0.0216 0.615465 0.5178742 0 1.975365e-20 FALSE NA ENSE00002328329_027 ENSE00002328329 027 2 242401893 242402062 + 45 90 35 G A 242402016 5993 124 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAATTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462600 241462601 241462601 exon -12 0.8777778 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAATTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 768 593 0.8 0.8 0.8 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.1063129 -0.01571439 0.8626925 0.7547008 NA 0.04529924 NA FALSE NA 1 6.954 rs139008133 upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs139008133 1 A:0.0042 A:0.0008 A:0.0159 NA A:0 A:0.007 A:0.002 A:0.0005 A:0.0043 AGT G,A 0.003542 2:241462601 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant 5.220844 0.99163 0.99184 0.615465 0.9987461 0 1.975365e-20 FALSE 0.00377329 ENSE00002328329_028 ENSE00002328329 028 2 242401893 242402062 + 45 90 35 T C 242402020 5994 128 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTACTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462604 241462605 241462605 exon -8 0.9222222 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTACTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 75 109 1 1 1 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.3063129 0.1842856 0.8626925 0.7547008 NA 0.2452992 NA FALSE NA 0.99 7.186 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs200603089 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATT T,C 4.942e-05 2:241462605 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant 4.007129 0.81093 0.99066 0.615465 0.9930878 0 1.975365e-20 FALSE 6.49899e-05 ENSE00002328329_030 ENSE00002328329 030 2 242401893 242402062 + 45 90 35 G A 242402025 5996 133 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCATGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462609 241462610 241462610 exon -3 0.9777778 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCATGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 446 582 0.9293172 1 0.9646586 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2356301 0.1842856 0.8626925 0.7547008 NA 0.2099578 NA FALSE NA 1 4.919 rs149617362 upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 rs149617362 1 NA A:0 A:0.0001 CGT G,A 4.942e-05 2:241462610 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 missense_variant 4.377764 0.9903 0.96987 0.615465 0.9980213 0 1.975365e-20 FALSE 3.65836e-05 ENSE00002328329_032 ENSE00002328329 032 2 242401893 242402062 + 45 90 35 C T 242402031 5998 139 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTATGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462615 241462616 241462616 downstr_intron 4 1.117647 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTATGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 785 695 0.9952168 0.9990561 0.9971364 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.3015297 0.1833417 0.8626925 0.7547008 NA 0.2424357 NA FALSE NA 0.814 -0.954 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 1 NA ACG C,T 3.295e-05 2:241462616 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 splice_region_variant 0.510612 0.74449 0.01655 0.053691 0.4679914 0.174226 1.975365e-20 FALSE 3.66217e-05 ENSE00002328329_033 ENSE00002328329 033 2 242401893 242402062 + 45 90 35 G A 242402032 5999 140 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACAAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462616 241462617 241462617 downstr_intron 5 1.147059 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACAAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 586 382 0.04509046 0.03843617 0.04176331 0.9093213 0.8160637 0.6936871 0.8157144 NA NA -0.6485967 -0.7772782 0.8626925 0.7547008 NA -0.7129374 NA TRUE NA 0.979 5.078 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:241462617 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 splice_region_variant 1.071013 0.9792 0.8725 0.053691 0.8684234 0.748261 1.975365e-20 FALSE 2.85232e-05 ENSE00002328329_034 ENSE00002328329 034 2 242401893 242402062 + 45 90 35 G C 242402032 6000 140 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACCAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 241462616 241462617 241462617 downstr_intron 5 1.147059 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACCAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 77 1006 0.0820783 0.04602343 0.06405087 0.9093213 0.8160637 0.6936871 0.8157144 NA NA -0.6116088 -0.769691 0.8626925 0.7547008 NA -0.6906499 NA TRUE NA 0.979 5.078 NA NA NA FARP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FARP2 NA NA NA ENSG00000006607 ENSE00003462692 splice_region_variant 0.813571 0.98045 0.96792 0.053691 0.8948213 0.748261 1.975365e-20 FALSE 9.37192e-05 ENSE00002328329_035 ENSE00002328329 035 2 242401893 242402062 + 45 90 35 T A 242402044 6001 152 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGAATACTTTGATTTTTTTTTA 241462477 241462647 241462628 241462629 241462629 downstr_intron 17 1.5 CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGAATACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA mutant NA NA NA NA NA 670 49 0.9324273 0.810213 0.8713202 0.9093213 0.8160637 0.6936871 0.8157144 NA NA 0.2387401 -0.005501349 0.8626925 0.7547008 NA 0.1166194 NA FALSE NA 0 0.163 . upstream_gene_variant MODIFIER FARP2 HGNC 16460 ENST00000422951 1 NA ATT T,A 1.647e-05 2:241462629 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003462692 intron_variant 0.409881 0.11651 0.02505 0.053691 0.6031124 0.0840473 1.975365e-20 FALSE 2.06635e-05 ENSE00002328329_BRK ENSE00002328329 BRK 2 242401893 242402062 + 45 90 35 A,G; T,T NA NA NA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCTTCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGCCACGAAAGTCCTTGATTACTTTGATTTTTTTTTA 241462477 241462647 NA NA NA NA NA NA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCTTCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGCCACGAAAGTCCTTGATTACTTTGATTTTTTTTTA CCCATGTCCCAGGGACGCACACTTACAGCTCTCTGCTTCTTTCAGCGCGTGCCTGCAGACGAGGCCTACTTCATAGTCAAAGAGATTCTCGCTACAGAACGAACATACCTCAAGGATTTAGAAGTTATTACCGTGGTACGAAAGTCCTTGATTACTTTGATTTTTTTTTA control 96 106 0 0 0 294 1104 0 0.03459371 0.01729685 0.9093213 0.8160637 0.6936871 0.8157144 -0.9093213 -0.8160637 -0.6936871 -0.7811207 0.8626925 0.7547008 -0.8626925 -0.7374039 0.1252886 TRUE TRUE NA NA NA NA NA FARP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FARP2 NA NA NA ENSG00000006607 ENSE00003462692 NA NA NA NA NA NA NA 1.975365e-20 FALSE NA ENSE00002329068_000 ENSE00002329068 000 2 98828352 98828521 + 41 99 30 NA NA NA NA NA GCCCTCTTTGTTCCCAGCTCTGGTAAGTACCTGATCAGGTCTCCCATCGGTCAGAAGGTAGATTGCCTGTGTTTCTTTATCAGCAAAAGCAGTTTTCAGGGCACTCAGGGTGTTTGTGGAGCTTCCAATCTACGGAAAAAAGAGACACCAAGGACACACTTGAATCCCAA 98211888 98212058 NA NA NA NA NA NA TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC natural NA NA NA NA NA 1224 3270 0.915289 0.9586537 0.9369714 NA NA 0.915289 0.9586537 NA NA 0 0 NA 0.9369714 NA 0 NA FALSE NA NA NA NA NA NA VWA3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VWA3B NA NA NA ENSG00000168658 ENSE00003590430 NA NA NA NA NA NA NA 3.265241e-18 FALSE NA ENSE00002329068_001 ENSE00002329068 001 2 98828352 98828521 + 41 99 30 A G 98828362 2236 11 TTGGGATTCAGGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC 98211888 98212058 98211898 98211899 98211899 upstr_intron -31 -0.7317073 TTGGGATTCAGGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC mutant NA NA NA NA NA 86 393 1 0.9995974 0.9997987 NA NA 0.915289 0.9586537 NA NA 0.084711 0.04094362 NA 0.9369714 NA 0.06282731 NA FALSE NA 0 -0.255 . upstream_gene_variant MODIFIER VWA3B HGNC 28385 ENST00000489630 rs563495810 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAG A,G 8.278e-06 2:98211899 VWA3B HGNC Symbol protein_coding 226183 ENSG00000168658 ENSE00003590430 intron_variant 0.018277 0.14173 0.00601 0.06567 0.3909932 0.111952 3.265241e-18 FALSE 4.14721e-06 ENSE00002329068_008 ENSE00002329068 008 2 98828352 98828521 + 41 99 30 C T 98828422 2243 71 TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCTCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC 98211888 98212058 98211958 98211959 98211959 exon 30 0.3030303 TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCTCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC mutant NA NA NA NA NA 342 121 0.9940399 0.9996849 0.9968624 NA NA 0.915289 0.9586537 NA NA 0.07875089 0.04103111 NA 0.9369714 NA 0.059891 NA FALSE NA 0.959 -0.225 . upstream_gene_variant MODIFIER VWA3B HGNC 28385 ENST00000489630 1 NA CCC C,T 8.277e-06 2:98211959 VWA3B HGNC Symbol protein_coding 226183 ENSG00000168658 ENSE00003590430 synonymous_variant 1.486873 0.94649 0.38298 0.497415 0.7656749 0 3.265241e-18 FALSE 4.06134e-06 ENSE00002329068_015 ENSE00002329068 015 2 98828352 98828521 + 41 99 30 C T 98828473 2250 122 TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACTGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC 98211888 98212058 98212009 98212010 98212010 exon -19 0.8181818 TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACTGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC TTGGGATTCAAGTGTGTCCTTGGTGTCTCTTTTTTCCGTAGATTGGAAGCTCCACAAACACCCTGAGTGCCCTGAAAACTGCTTTTGCTGATAAAGAAACACAGGCAATCTACCTTCTGACCGATGGGAGACCTGATCAGGTACTTACCAGAGCTGGGAACAAAGAGGGC mutant NA NA NA NA NA 15 27 1 0.9514738 0.9757369 NA NA 0.915289 0.9586537 NA NA 0.084711 -0.007179991 NA 0.9369714 NA 0.0387655 NA FALSE NA 0.087 -1.397 . synonymous_variant&NMD_transcript_variant LOW VWA3B HGNC 28385 ENST00000489630 1/15 rs376968018 1 NA T:0 T:0.0002 CCG C,T 8.277e-05 2:98212010 VWA3B HGNC Symbol protein_coding 226183 ENSG00000168658 ENSE00003590430 synonymous_variant 1.346074 0.54246 0.01495 0.497415 0.667385 0 3.265241e-18 FALSE 7.31054e-05 ENSE00002329164_000 ENSE00002329164 000 5 153035316 153035485 + 63 54 53 NA NA NA NA NA TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 NA NA NA NA NA NA TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC natural 97 116 0.9931447 0.9971039 0.9951243 2406 1896 0.9421543 0.9637204 0.9529373 0.9931447 0.9971039 0.9421543 0.9637204 0 0 0 0 0.9951243 0.9529373 0 0 0 FALSE FALSE NA NA NA NA NA GRIA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIA1 NA NA NA ENSG00000155511 ENSE00003699550 NA NA NA NA NA NA NA 0.9994363 TRUE NA ENSE00002329164_001 ENSE00002329164 001 5 153035316 153035485 + 63 54 53 C G 153035336 2030 21 TGTTGTTGTCGTGGCTTTAAGTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655775 153655776 153655776 upstr_intron -43 -0.6666667 TGTTGTTGTCGTGGCTTTAAGTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 428 674 0.9954912 0.9982879 0.9968896 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05333698 0.03456746 0.9951243 0.9529373 NA 0.04395222 NA FALSE NA 0 -0.791 . intron_variant MODIFIER GRIA1 HGNC 4571 ENST00000518142 3/14 1 NA ACT C,G 1.647e-05 5:153655776 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 intron_variant -0.530444 0.08307 0.01422 0.053691 0.5043973 0.0448725 0.9994363 TRUE 8.16433e-06 ENSE00002329164_002 ENSE00002329164 002 5 153035316 153035485 + 63 54 53 T C 153035349 2031 34 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATCAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655788 153655789 153655789 upstr_intron -30 -0.4603175 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATCAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 110 237 1 0.9959748 0.9979874 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05784573 0.03225442 0.9951243 0.9529373 NA 0.04505008 NA FALSE NA 0.007 2.043 . intron_variant MODIFIER GRIA1 HGNC 4571 ENST00000518142 3/14 1 NA TTA T,C 8.237e-06 5:153655789 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 intron_variant 0.360869 0.5078 0.18255 0.053691 0.5986648 0.561586 0.9994363 TRUE 8.15016e-06 ENSE00002329164_003 ENSE00002329164 003 5 153035316 153035485 + 63 54 53 A T 153035351 2032 36 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTATTGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655790 153655791 153655791 upstr_intron -28 -0.4285714 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTATTGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 761 1210 0.9953225 0.9999685 0.9976455 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05316821 0.03624813 0.9951243 0.9529373 NA 0.04470817 NA FALSE NA 0 0.077 . intron_variant MODIFIER GRIA1 HGNC 4571 ENST00000518142 3/14 1 NA AAT A,T 1.647e-05 5:153655791 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 intron_variant 0.083211 0.21186 0.04757 0.053691 0.6895074 0.0448725 0.9994363 TRUE 8.15003e-06 ENSE00002329164_005 ENSE00002329164 005 5 153035316 153035485 + 63 54 53 T C 153035366 2034 51 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTACTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655805 153655806 153655806 upstr_intron -13 -0.1904762 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTACTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 34 144 1 1 1 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05784573 0.03627958 0.9951243 0.9529373 NA 0.04706266 NA FALSE NA 0.036 0.86 . intron_variant MODIFIER GRIA1 HGNC 4571 ENST00000518142 3/14 rs377333313 1 NA C:0.0002 C:0 ATT T,C 8.237e-06 5:153655806 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 intron_variant 0.053916 0.29132 0.29515 0.053691 0.6764546 0.121171 0.9994363 TRUE NA ENSE00002329164_006 ENSE00002329164 006 5 153035316 153035485 + 63 54 53 C T 153035405 2035 90 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATTGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655844 153655845 153655845 exon 27 0.5 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATTGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 329 1320 0.8647348 0.9994213 0.9320781 0.9931447 0.9971039 0.9421543 0.9637204 NA NA -0.07741945 0.03570087 0.9951243 0.9529373 NA -0.02085929 NA FALSE NA 0.006 -1.047 rs147489207 synonymous_variant LOW GRIA1 HGNC 4571 ENST00000518142 4/15 rs147489207 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0016 T:0 TCG C,T 5.766e-05 5:153655845 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 synonymous_variant 2.311176 0.75003 0.02981 0.615465 0.7686058 0 0.9994363 TRUE 6.10456e-05 ENSE00002329164_007 ENSE00002329164 007 5 153035316 153035485 + 63 54 53 G A 153035406 2036 91 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCAGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655845 153655846 153655846 exon -27 0.5185185 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCAGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 285 86 0.9979607 1 0.9989804 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05580645 0.03627958 0.9951243 0.9529373 NA 0.04604301 NA FALSE NA 1 4.441 . missense_variant MODERATE GRIA1 HGNC 4571 ENST00000518142 4/15 1 tolerated(0.21) benign(0.034) NA CGG G,A 1.647e-05 5:153655846 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 missense_variant 5.396777 0.98324 0.91999 0.615465 0.9932846 0 0.9994363 TRUE 4.06928e-06 ENSE00002329164_008 ENSE00002329164 008 5 153035316 153035485 + 63 54 53 G C 153035407 2037 92 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGCCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655846 153655847 153655847 exon -26 0.537037 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGCCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 343 1311 0.9910282 0.9400172 0.9655227 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.04887393 -0.02370317 0.9951243 0.9529373 NA 0.01258538 NA FALSE NA 1 7.186 . missense_variant MODERATE GRIA1 HGNC 4571 ENST00000518142 4/15 1 deleterious(0.04) benign(0.171) NA GGC G,C 8.237e-06 5:153655847 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 missense_variant 3.843401 0.9945 0.99439 0.554377 0.9881725 0 0.9994363 TRUE 4.06894e-06 ENSE00002329164_009 ENSE00002329164 009 5 153035316 153035485 + 63 54 53 C T 153035417 2038 102 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTATATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655856 153655857 153655857 exon -16 0.7222222 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTATATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 330 2058 0.9938239 0.9999815 0.9969027 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05166958 0.03626109 0.9951243 0.9529373 NA 0.04396534 NA FALSE NA 0.99 0.511 . synonymous_variant LOW GRIA1 HGNC 4571 ENST00000518142 4/15 1 NA ACA C,T 2.471e-05 5:153655857 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 synonymous_variant 0.811915 0.97399 0.87356 0.554377 0.556549 0 0.9994363 TRUE 1.22061e-05 ENSE00002329164_010 ENSE00002329164 010 5 153035316 153035485 + 63 54 53 G A 153035424 2039 109 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTACAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655863 153655864 153655864 exon -9 0.8518519 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTACAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 198 42 1 1 1 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05784573 0.03627958 0.9951243 0.9529373 NA 0.04706266 NA FALSE NA 1 9.065 . missense_variant MODERATE GRIA1 HGNC 4571 ENST00000518142 4/15 1 tolerated(0.12) probably_damaging(0.999) NA TGC G,A 8.237e-06 5:153655864 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 missense_variant 6.205791 0.98762 0.99498 0.554377 0.9977525 0 0.9994363 TRUE 4.06914e-06 ENSE00002329164_011 ENSE00002329164 011 5 153035316 153035485 + 63 54 53 G A 153035435 2040 120 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTAAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655874 153655875 153655875 downstr_intron 3 1.057692 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTAAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 94 527 0.9927777 0.9879611 0.9903694 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05062341 0.02424066 0.9951243 0.9529373 NA 0.03743204 NA FALSE NA 1 1.096 . splice_region_variant&intron_variant LOW GRIA1 HGNC 4571 ENST00000518142 4/14 1 NA TGA G,A 2.471e-05 5:153655875 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 splice_region_variant 1.942521 0.97137 0.66702 0.053691 0.8867586 0.5385 0.9994363 TRUE 2.03513e-05 ENSE00002329164_012 ENSE00002329164 012 5 153035316 153035485 + 63 54 53 C T 153035443 2041 128 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGTACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655882 153655883 153655883 downstr_intron 11 1.211538 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGTACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 974 35 1 1 1 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05784573 0.03627958 0.9951243 0.9529373 NA 0.04706266 NA FALSE NA 0 -0.375 . intron_variant MODIFIER GRIA1 HGNC 4571 ENST00000518142 4/14 1 NA GCA C,T 8.237e-06 5:153655883 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 intron_variant 1.720382 0.22999 0.00691 0.053691 0.820548 0.272721 0.9994363 TRUE 4.0715e-06 ENSE00002329164_013 ENSE00002329164 013 5 153035316 153035485 + 63 54 53 G A 153035451 2042 136 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGACTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655890 153655891 153655891 downstr_intron 19 1.365385 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGACTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 628 482 1 1 1 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05784573 0.03627958 0.9951243 0.9529373 NA 0.04706266 NA FALSE NA 0.001 1.453 rs191398166 intron_variant MODIFIER GRIA1 HGNC 4571 ENST00000518142 4/14 rs191398166 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0.0005 A:0 GGC G,A 5.766e-05 5:153655891 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 intron_variant 0.903506 0.24493 0.06925 0.053691 0.7506692 0.0963563 0.9994363 TRUE 4.48145e-05 ENSE00002329164_014 ENSE00002329164 014 5 153035316 153035485 + 63 54 53 C A 153035459 2043 144 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGATCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 153655898 153655899 153655899 downstr_intron 27 1.519231 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGATCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 969 625 0.9975064 0.9997469 0.9986266 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.05535211 0.03602646 0.9951243 0.9529373 NA 0.04568928 NA FALSE NA 0 -1.32 . intron_variant MODIFIER GRIA1 HGNC 4571 ENST00000518142 4/14 rs201969852 1 NA GCT C,A 8.237e-06 5:153655899 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 intron_variant 0.241094 0.19345 0.00962 0.053691 0.5049373 0.0501343 0.9994363 TRUE 8.14916e-06 ENSE00002329164_015 ENSE00002329164 015 5 153035316 153035485 + 63 54 53 C G 153035467 2044 152 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCGTTTCCAGGTTTGGGGCCC 153655755 153655925 153655906 153655907 153655907 downstr_intron 35 1.673077 TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCGTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC mutant NA NA NA NA NA 211 1327 0.9619884 0.9963975 0.979193 0.9931447 0.9971039 0.9421543 0.9637204 NA NA 0.01983417 0.03267709 0.9951243 0.9529373 NA 0.02625563 NA FALSE NA 0 -0.614 . intron_variant MODIFIER GRIA1 HGNC 4571 ENST00000518142 4/14 1 NA CCT C,G 1.647e-05 5:153655907 GRIA1 HGNC Symbol protein_coding 324254 ENSG00000155511 ENSE00003699550 intron_variant -0.429547 0.13641 0.03341 0.053691 0.3849068 0.065488 0.9994363 TRUE 8.15454e-06 ENSE00002329164_BRK ENSE00002329164 BRK 5 153035316 153035485 + 63 54 53 A,G; T,T NA NA NA TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTTTATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGCCGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC 153655755 153655925 NA NA NA NA NA NA TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTTTATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGCCGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC TGTTGTTGTCGTGGCTTTAACTGTTAGTATGATTAATGAGTCTCCACCTATTATGTTTTGTAGATTATAAAGCTAGAGAAGAATGGCATCGGCTACCACTACATTCTTGCAAATCTGGTGAGTAGAGCACTGCAGGCTCTCAGCTCAAGTCCTTTCCAGGTTTGGGGCCC control NA NA NA NA NA 92 558 0 0.00998832 0.00499416 0.9931447 0.9971039 0.9421543 0.9637204 NA NA -0.9421543 -0.9537321 0.9951243 0.9529373 NA -0.9479432 NA TRUE NA NA NA NA NA NA GRIA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRIA1 NA NA NA ENSG00000155511 ENSE00003699550 NA NA NA NA NA NA NA 0.9994363 TRUE NA ENSE00002329207_000 ENSE00002329207 000 2 73267942 73268111 - 41 78 51 NA NA NA NA NA GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG 73040812 73040982 NA NA NA NA NA NA GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG natural 66 79 0.9963105 1 0.9981553 1033 1328 0.9975487 0.9965457 0.9970472 0.9963105 1 0.9975487 0.9965457 0 0 0 0 0.9981553 0.9970472 0 0 0 FALSE FALSE NA NA NA NA NA SFXN5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN5 NA NA NA ENSG00000144040 ENSE00003617952 NA NA NA NA NA NA NA 0.01403045 FALSE NA ENSE00002329207_006 ENSE00002329207 006 2 73267942 73268111 - 41 78 51 C T 73267997 1695 115 GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGATCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG 73040812 73040982 73040867 73040868 73040868 exon -15 0.8205128 GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGATCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG mutant NA NA NA NA NA 102 44 0.9967269 1 0.9983634 0.9963105 1 0.9975487 0.9965457 NA NA -0.000821803 0.003454271 0.9981553 0.9970472 NA 0.001316234 NA FALSE NA 1 4.535 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 3/7 1 NA ACC C,T 3.295e-05 2:73040868 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003617952 missense_variant 3.330403 0.98198 0.88773 0.706298 0.9919623 0 0.01403045 FALSE 4.51112e-05 ENSE00002329207_009 ENSE00002329207 009 2 73267942 73268111 - 41 78 51 C T 73268005 1698 107 GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCACCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG 73040812 73040982 73040875 73040876 73040876 exon -23 0.7179487 GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCACCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG mutant NA NA NA NA NA 305 22 1 1 1 0.9963105 1 0.9975487 0.9965457 NA NA 0.002451325 0.003454271 0.9981553 0.9970472 NA 0.002952798 NA FALSE NA 0.996 1.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:73040876 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003617952 missense_variant 3.432861 0.93821 0.50421 0.706298 0.9887197 0 0.01403045 FALSE 1.22774e-05 ENSE00002329207_010 ENSE00002329207 010 2 73267942 73268111 - 41 78 51 C G 73268005 1699 107 GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCCCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG 73040812 73040982 73040875 73040876 73040876 exon -23 0.7179487 GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCCCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG mutant NA NA NA NA NA 13 215 1 0.9985712 0.9992856 0.9963105 1 0.9975487 0.9965457 NA NA 0.002451325 0.002025511 0.9981553 0.9970472 NA 0.002238418 NA FALSE NA 0.996 1.22 NA NA NA SFXN5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN5 NA NA NA ENSG00000144040 ENSE00003617952 missense_variant 1.614401 0.93866 0.4362 0.706298 0.8832056 0 0.01403045 FALSE 4.09246e-06 ENSE00002329207_015 ENSE00002329207 015 2 73267942 73268111 - 41 78 51 C T 73268056 1704 56 GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACATCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG 73040812 73040982 73040926 73040927 73040927 exon 5 0.06410256 GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACATCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG mutant NA NA NA NA NA 239 73 1 1 1 0.9963105 1 0.9975487 0.9965457 NA NA 0.002451325 0.003454271 0.9981553 0.9970472 NA 0.002952798 NA FALSE NA 1 4.535 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 3/7 1 NA ACG C,T 1.647e-05 2:73040927 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003617952 missense_variant 6.476722 0.98198 0.88773 0.706298 0.9993994 0 0.01403045 FALSE 2.45884e-05 ENSE00002329207_018 ENSE00002329207 018 2 73267942 73268111 - 41 78 51 C T 73268094 1707 18 GCGGGAGCCCTGGATCTATGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG 73040812 73040982 73040964 73040965 73040965 upstr_intron -34 -0.6470588 GCGGGAGCCCTGGATCTATGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG mutant NA NA NA NA NA 151 86 1 1 1 0.9963105 1 0.9975487 0.9965457 NA NA 0.002451325 0.003454271 0.9981553 0.9970472 NA 0.002952798 NA FALSE NA 0 -0.103 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/6 1 NA ACA C,T 8.244e-06 2:73040965 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003617952 intron_variant 0.792956 0.1577 0.00834 0.062308 0.7917623 0.151315 0.01403045 FALSE 2.56437e-05 ENSE00002329207_019 ENSE00002329207 019 2 73267942 73268111 - 41 78 51 C A 73268099 1708 13 GCGGGAGCCCTGTATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG 73040812 73040982 73040969 73040970 73040970 upstr_intron -39 -0.745098 GCGGGAGCCCTGTATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG mutant NA NA NA NA NA 243 204 0.9877953 1 0.9938977 0.9963105 1 0.9975487 0.9965457 NA NA -0.009753329 0.003454271 0.9981553 0.9970472 NA -0.003149529 NA FALSE NA 0 0.092 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/6 rs369591437 1 NA A:0 A:0.0003 TCC C,A 4.949e-05 2:73040970 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003617952 intron_variant 0.437395 0.19992 0.12006 0.062308 0.7336886 0.0946271 0.01403045 FALSE 8.85967e-05 ENSE00002329207_BRK ENSE00002329207 BRK 2 73267942 73268111 - 41 78 51 A,G; T,T NA NA NA GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCTTAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGCCAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG 73040812 73040982 NA NA NA NA NA NA GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCTTAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGCCAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG GCGGGAGCCCTGGATCTGTGCCCCTCAATGTCTCTTTTCTTTCTTCTGCAGAGACGTCTCAGAGAGGCTGTGCAGCTGCTGGAGGACTATAAGCATGGGACCCTGCGCCCGGGGGTCACCAATGAACAGGTAACTCTGTGGGAGGTGGGAGCATGGCCAGTGGGGAAGGG control 110 21 0 0 0 NA NA NA NA NA 0.9963105 1 0.9975487 0.9965457 -0.9963105 -1 NA NA 0.9981553 0.9970472 -0.9981553 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN5 NA NA NA ENSG00000144040 ENSE00003617952 NA NA NA NA NA NA NA 0.01403045 FALSE NA ENSE00002329296_000 ENSE00002329296 000 17 40991264 40991433 + 47 87 36 NA NA NA NA NA AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 NA NA NA NA NA NA AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG natural 92 47 0.9956445 0.9977238 0.9966841 3192 4392 0.9790862 0.9283127 0.9536994 0.9956445 0.9977238 0.9790862 0.9283127 0 0 0 0 0.9966841 0.9536994 0 0 0 FALSE FALSE NA NA NA NA NA PSME3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSME3 NA NA NA ENSG00000131467 ENSE00003613979 NA NA NA NA NA NA NA 0.9881038 TRUE NA ENSE00002329296_001 ENSE00002329296 001 17 40991264 40991433 + 47 87 36 C G 40991274 2029 11 AACAATTGGGGTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839256 42839257 42839257 upstr_intron -37 -0.7659574 AACAATTGGGGTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant 15 16 0.85 0.9496311 0.8998156 NA NA NA NA NA 0.9956445 0.9977238 0.9790862 0.9283127 -0.1456445 -0.04809262 NA NA 0.9966841 0.9536994 -0.09686855 NA NA NA FALSE 0 -0.1 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 9/10 rs373515453 1 NA G:0.0005 G:0 GCT C,G 1.647e-05 17:42839257 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant 0.176818 0.31275 0.19146 0.256867 0.4839184 0.0517392 0.9881038 TRUE 8.12341e-06 ENSE00002329296_002 ENSE00002329296 002 17 40991264 40991433 + 47 87 36 G A 40991278 2030 15 AACAATTGGGCTTTAGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839260 42839261 42839261 upstr_intron -33 -0.6808511 AACAATTGGGCTTTAGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant 111 73 0.8843527 0.8937745 0.8890636 27 1174 0.95 0.979831 0.9649155 0.9956445 0.9977238 0.9790862 0.9283127 -0.1112917 -0.1039493 -0.02908616 0.05151831 0.9966841 0.9536994 -0.1076205 0.01121607 0.1188366 FALSE FALSE 0.193 2.045 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 9/10 1 NA TGG G,A 8.236e-06 17:42839261 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant 1.702419 0.39453 0.84636 0.256867 0.7285446 0.501239 0.9881038 TRUE 8.12394e-06 ENSE00002329296_005 ENSE00002329296 005 17 40991264 40991433 + 47 87 36 G A 40991296 2033 33 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTATACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839278 42839279 42839279 upstr_intron -15 -0.2978723 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTATACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant 14 10 0.9993791 1 0.9996895 735 1523 0.9957992 0.999272 0.9975356 0.9956445 0.9977238 0.9790862 0.9283127 0.003734608 0.00227623 0.01671301 0.07095931 0.9966841 0.9536994 0.003005419 0.04383616 0.04083074 FALSE FALSE 0 -0.138 rs183278888 intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 9/10 rs183278888 1 A:0.0054 A:0.0189 A:0.0029 NA A:0 A:0 A:0 A:0.0107 A:0.0003 TGT C,A 0.001211 17:42839279 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant -0.060809 0.25095 0.17165 0.256867 0.6846959 0.0517392 0.9881038 TRUE 0.0010762 ENSE00002329296_007 ENSE00002329296 007 17 40991264 40991433 + 47 87 36 C T 40991299 2035 36 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTATCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839281 42839282 42839282 upstr_intron -12 -0.2340426 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTATCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 249 3705 0.9918231 0.9490822 0.9704527 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.01273697 0.02076946 0.9966841 0.9536994 NA 0.01675322 NA FALSE NA 0 0.126 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 9/10 1 NA ACC C,T 1.647e-05 17:42839282 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant -0.207976 0.21884 0.06229 0.256867 0.6267618 0.0517392 0.9881038 TRUE 8.12222e-06 ENSE00002329296_008 ENSE00002329296 008 17 40991264 40991433 + 47 87 36 T G 40991302 2036 39 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCGCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839284 42839285 42839285 upstr_intron -9 -0.1702128 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCGCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 780 479 0.9954501 0.9590588 0.9772545 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.01636392 0.03074611 0.9966841 0.9536994 NA 0.02355502 NA FALSE NA 0.012 -0.013 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 9/10 1 NA CTC T,G 8.236e-06 17:42839285 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant 0.155178 0.2574 0.39212 0.256867 0.4558265 0.0518168 0.9881038 TRUE 4.06095e-06 ENSE00002329296_009 ENSE00002329296 009 17 40991264 40991433 + 47 87 36 G C 40991307 2037 44 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTCCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839289 42839290 42839290 upstr_intron -4 -0.06382979 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTCCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant 31 42 0.85 0.85 0.85 2889 341 0.9593053 0.9585095 0.9589074 0.9956445 0.9977238 0.9790862 0.9283127 -0.1456445 -0.1477238 -0.01978091 0.03019675 0.9966841 0.9536994 -0.1466841 0.005207921 0.151892 FALSE FALSE 0 -0.626 . splice_region_variant&intron_variant LOW PSME3 HGNC 9570 ENST00000590720 9/10 1 NA TGC G,C 8.236e-06 17:42839290 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 splice_region_variant -0.055421 0.2632 0.11356 0.256867 0.5807086 0.0597237 0.9881038 TRUE 4.06095e-06 ENSE00002329296_011 ENSE00002329296 011 17 40991264 40991433 + 47 87 36 T A 40991317 2039 54 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACAATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839299 42839300 42839300 exon 7 0.08045977 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACAATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 428 1741 0.9920604 0.9957688 0.9939146 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.01297425 0.06745609 0.9966841 0.9536994 NA 0.04021517 NA FALSE NA 1 7.976 . missense_variant MODERATE PSME3 HGNC 9570 ENST00000590720 10/11 1 deleterious(0) probably_damaging(0.994) NA CTA T,A 8.236e-06 17:42839300 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 missense_variant 6.818193 0.99398 0.9977 0.67177 0.9916118 0 0.9881038 TRUE NA ENSE00002329296_012 ENSE00002329296 012 17 40991264 40991433 + 47 87 36 C T 40991323 2040 60 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCTGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839305 42839306 42839306 exon 13 0.1494253 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCTGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 1136 17 0.9919772 0.9809244 0.9864508 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.01289103 0.05261162 0.9966841 0.9536994 NA 0.03275133 NA FALSE NA 1 7.756 . missense_variant MODERATE PSME3 HGNC 9570 ENST00000590720 10/11 1 deleterious(0) possibly_damaging(0.677) NA CCG C,T 3.295e-05 17:42839306 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 missense_variant 5.326171 0.99203 0.99645 0.67177 0.9980621 0 0.9881038 TRUE 2.03044e-05 ENSE00002329296_013 ENSE00002329296 013 17 40991264 40991433 + 47 87 36 C T 40991328 2041 65 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACTGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839310 42839311 42839311 exon 18 0.2068966 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACTGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant 145 244 0.85 0.85 0.85 516 1469 0.9803676 0.9578183 0.969093 0.9956445 0.9977238 0.9790862 0.9283127 -0.1456445 -0.1477238 0.001281457 0.02950559 0.9966841 0.9536994 -0.1466841 0.01539352 0.1620776 FALSE FALSE 0.001 -1.598 rs139649789 synonymous_variant LOW PSME3 HGNC 9570 ENST00000590720 10/11 rs139649789&COSM187178 1 T:0.0008 T:0.003 T:0 NA T:0 T:0 T:0 T:0.005 T:0 CCG C,T 0.000453 17:42839311 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 synonymous_variant 2.317323 0.77719 0.22892 0.67177 0.6377882 0 0.9881038 TRUE 0.000308612 ENSE00002329296_015 ENSE00002329296 015 17 40991264 40991433 + 47 87 36 T C 40991340 2043 77 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATCGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839322 42839323 42839323 exon 30 0.3448276 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATCGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 132 1180 1 0.9933654 0.9966827 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.02091384 0.06505266 0.9966841 0.9536994 NA 0.04298325 NA FALSE NA 0.933 0.005 . synonymous_variant LOW PSME3 HGNC 9570 ENST00000590720 10/11 1 NA TTG T,C 8.236e-06 17:42839323 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 synonymous_variant 0.396419 0.351 0.70079 0.67177 0.6345942 0 0.9881038 TRUE 8.1213e-06 ENSE00002329296_016 ENSE00002329296 016 17 40991264 40991433 + 47 87 36 T C 40991355 2044 92 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATACATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839337 42839338 42839338 exon -43 0.5172414 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATACATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 213 150 1 0.9701817 0.9850908 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.02091384 0.04186896 0.9966841 0.9536994 NA 0.0313914 NA FALSE NA 1 1.047 . synonymous_variant LOW PSME3 HGNC 9570 ENST00000590720 10/11 1 NA ATA T,C 8.236e-06 17:42839338 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 synonymous_variant -0.101599 0.97407 0.6372 0.67177 0.4511792 0 0.9881038 TRUE 4.06098e-06 ENSE00002329296_017 ENSE00002329296 017 17 40991264 40991433 + 47 87 36 C T 40991365 2045 102 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTTGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839347 42839348 42839348 exon -33 0.6321839 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTTGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 1492 1406 0.9987652 1 0.9993826 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.01967904 0.07168727 0.9966841 0.9536994 NA 0.04568316 NA FALSE NA 1 4.814 . missense_variant MODERATE PSME3 HGNC 9570 ENST00000590720 10/11 COSM460325 1 tolerated(0.21) probably_damaging(0.996) NA TCG C,T 8.236e-06 17:42839348 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 missense_variant 6.291517 0.98786 0.99234 0.67177 0.9813759 0 0.9881038 TRUE 8.12328e-06 ENSE00002329296_019 ENSE00002329296 019 17 40991264 40991433 + 47 87 36 C T 40991370 2047 107 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTTATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839352 42839353 42839353 exon -28 0.6896552 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTTATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 42 312 1 1 1 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.02091384 0.07168727 0.9966841 0.9536994 NA 0.04630055 NA FALSE NA 0.998 0.616 NA NA NA PSME3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:42839353 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 synonymous_variant 1.653538 0.98295 0.97051 0.67177 0.7298166 0 0.9881038 TRUE 1.62468e-05 ENSE00002329296_021 ENSE00002329296 021 17 40991264 40991433 + 47 87 36 G C 40991388 2049 125 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGCAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839370 42839371 42839371 exon -10 0.8965517 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGCAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant 13 10 0.9221018 0.9987467 0.9604242 182 829 0.9974858 1 0.9987429 0.9956445 0.9977238 0.9790862 0.9283127 -0.0735427 0.001022907 0.01839966 0.07168727 0.9966841 0.9536994 -0.0362599 0.04504347 0.08130337 FALSE FALSE 1 3.538 . missense_variant MODERATE PSME3 HGNC 9570 ENST00000590720 10/11 1 deleterious(0) probably_damaging(1) NA GGA G,C 8.237e-06 17:42839371 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 missense_variant 6.229982 0.97907 0.98242 0.67177 0.997839 0 0.9881038 TRUE 4.06458e-06 ENSE00002329296_022 ENSE00002329296 022 17 40991264 40991433 + 47 87 36 A G 40991394 2050 131 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAGTATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839376 42839377 42839377 exon -4 0.9655172 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAGTATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 1023 206 0.9413225 0.9872663 0.9642944 0.9956445 0.9977238 0.9790862 0.9283127 NA NA -0.03776368 0.0589536 0.9966841 0.9536994 NA 0.01059496 NA FALSE NA 1 1.711 . synonymous_variant LOW PSME3 HGNC 9570 ENST00000590720 10/11 1 NA AAT A,G 8.237e-06 17:42839377 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 synonymous_variant 0.733288 0.97932 0.9755 0.67177 0.5203001 0 0.9881038 TRUE 1.62644e-05 ENSE00002329296_023 ENSE00002329296 023 17 40991264 40991433 + 47 87 36 A G 40991405 2051 142 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAGTCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 42839387 42839388 42839388 downstr_intron 8 1.228571 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAGTCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 21 846 0.9359157 1 0.9679579 0.9956445 0.9977238 0.9790862 0.9283127 NA NA -0.04317043 0.07168727 0.9966841 0.9536994 NA 0.01425842 NA FALSE NA 0 0.173 . splice_region_variant&intron_variant LOW PSME3 HGNC 9570 ENST00000590720 10/10 rs377482824 1 NA G:0 G:0.0001 AAT A,G 2.471e-05 17:42839388 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 splice_region_variant 0.600797 0.24413 0.0507 0.099367 0.5781874 0.150005 0.9881038 TRUE 4.47854e-05 ENSE00002329296_024 ENSE00002329296 024 17 40991264 40991433 + 47 87 36 T C 40991416 2052 153 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTCGTCCATAGTTGCTGTGG 42839246 42839416 42839398 42839399 42839399 downstr_intron 19 1.542857 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTCGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 461 409 1 0.9959937 0.9979969 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.02091384 0.06768098 0.9966841 0.9536994 NA 0.04429741 NA FALSE NA 0 -0.656 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 10/10 1 NA TTG T,C 8.237e-06 17:42839399 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant 0.327035 0.17437 0.08695 0.099367 0.6564832 0.0499422 0.9881038 TRUE 4.08694e-06 ENSE00002329296_025 ENSE00002329296 025 17 40991264 40991433 + 47 87 36 G C 40991417 2053 154 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTCTCCATAGTTGCTGTGG 42839246 42839416 42839399 42839400 42839400 downstr_intron 20 1.571429 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTCTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 303 56 1 1 1 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.02091384 0.07168727 0.9966841 0.9536994 NA 0.04630055 NA FALSE NA 0 0.506 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 10/10 1 NA TGT G,C 8.237e-06 17:42839400 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant 0.048572 0.23167 0.2128 0.099367 0.589354 0.0499422 0.9881038 TRUE 4.08767e-06 ENSE00002329296_026 ENSE00002329296 026 17 40991264 40991433 + 47 87 36 C T 40991419 2054 156 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTTCATAGTTGCTGTGG 42839246 42839416 42839401 42839402 42839402 downstr_intron 22 1.628571 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTTCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant 26 38 0.9986081 0.9927207 0.9956644 435 427 0.9885918 0.9952849 0.9919384 0.9956445 0.9977238 0.9790862 0.9283127 0.002963647 -0.005003054 0.009505637 0.06697222 0.9966841 0.9536994 -0.001019704 0.03823893 0.03925863 FALSE FALSE 0.001 1.34 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 10/10 1 NA TCC C,T 8.237e-06 17:42839402 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant 0.507883 0.19715 0.10913 0.099367 0.6875996 0.0499422 0.9881038 TRUE NA ENSE00002329296_027 ENSE00002329296 027 17 40991264 40991433 + 47 87 36 C T 40991420 2055 157 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCTATAGTTGCTGTGG 42839246 42839416 42839402 42839403 42839403 downstr_intron 23 1.657143 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCTATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 901 120 0.9982079 0.905678 0.9519429 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.0191217 -0.02263473 0.9966841 0.9536994 NA -0.001756511 NA FALSE NA 0 -1.238 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 10/10 1 NA CCA C,T 8.237e-06 17:42839403 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant 0.529316 0.30026 0.12274 0.099367 0.6862915 0.0499422 0.9881038 TRUE 4.0942e-06 ENSE00002329296_028 ENSE00002329296 028 17 40991264 40991433 + 47 87 36 A G 40991421 2056 158 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCGTAGTTGCTGTGG 42839246 42839416 42839403 42839404 42839404 downstr_intron 24 1.685714 AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCGTAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG mutant NA NA NA NA NA 11 268 0.9922689 0.9972555 0.9947622 0.9956445 0.9977238 0.9790862 0.9283127 NA NA 0.01318272 0.06894275 0.9966841 0.9536994 NA 0.04106273 NA FALSE NA 0 -0.42 . intron_variant MODIFIER PSME3 HGNC 9570 ENST00000590720 10/10 1 NA CAT A,G 5.766e-05 17:42839404 PSME3 HGNC Symbol protein_coding 19373 ENSG00000131467 ENSE00003613979 intron_variant 0.229384 0.21113 0.05478 0.099367 0.653988 0.0499422 0.9881038 TRUE 4.09266e-05 ENSE00002329296_BRK ENSE00002329296 BRK 17 40991264 40991433 + 47 87 36 A,G; T,T NA NA NA AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCTTGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATCCGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG 42839246 42839416 NA NA NA NA NA NA AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCTTGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATCCGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG AACAATTGGGCTTTGGGGACTAGCTTTTTCCTGTACCCTCCTTGCAGGAGGACTATCGCCGCACCGTGACAGAGATTGATGAGAAAGAATATATCAGCCTTCGGCTCATCATATCAGAGCTGAGGAATCAATATGTGAGTAATCTCAGTCCTTGTCCATAGTTGCTGTGG control 31 106 0 0.1216715 0.06083573 NA NA NA NA NA 0.9956445 0.9977238 0.9790862 0.9283127 -0.9956445 -0.8760523 NA NA 0.9966841 0.9536994 -0.9358484 NA NA NA TRUE NA NA NA NA NA PSME3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSME3 NA NA NA ENSG00000131467 ENSE00003613979 NA NA NA NA NA NA NA 0.9881038 TRUE NA ENSE00002329692_000 ENSE00002329692 000 5 170720846 170721015 + 41 99 30 NA NA NA NA NA GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 NA NA NA NA NA NA GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG natural 230 210 0.991892 0.9940335 0.9929627 5114 5198 0.9533147 0.9192642 0.9362894 0.991892 0.9940335 0.9533147 0.9192642 0 0 0 0 0.9929627 0.9362894 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RANBP17 NA NA NA ENSG00000204764 ENSE00003555773 NA NA NA NA NA NA NA 8.610177e-36 FALSE NA ENSE00002329692_001 ENSE00002329692 001 5 170720846 170721015 + 41 99 30 A G 170720856 2257 11 GAGACAAGGCGTCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293851 171293852 171293852 upstr_intron -31 -0.7317073 GAGACAAGGCGTCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1052 1253 1 0.9963219 0.9981609 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04668531 0.07705766 0.9929627 0.9362894 NA 0.06187149 NA FALSE NA 0 -0.541 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:171293852 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 intron_variant 0.272494 0.18719 0.02383 0.078448 0.7005016 0.121008 8.610177e-36 FALSE 2.43869e-05 ENSE00002329692_002 ENSE00002329692 002 5 170720846 170721015 + 41 99 30 A T 170720856 2258 11 GAGACAAGGCTTCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293851 171293852 171293852 upstr_intron -31 -0.7317073 GAGACAAGGCTTCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 155 753 1 0.989998 0.994999 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04668531 0.07073383 0.9929627 0.9362894 NA 0.05870957 NA FALSE NA 0 -0.541 NA NA NA RANBP17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RANBP17 NA NA NA ENSG00000204764 ENSE00003555773 intron_variant 0.121994 0.17459 0.01622 0.078448 0.7621549 0.121008 8.610177e-36 FALSE 4.06448e-06 ENSE00002329692_003 ENSE00002329692 003 5 170720846 170721015 + 41 99 30 T C 170720857 2259 12 GAGACAAGGCACCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293852 171293853 171293853 upstr_intron -30 -0.7073171 GAGACAAGGCACCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1811 620 0.9259572 1 0.9629786 0.991892 0.9940335 0.9533147 0.9192642 NA NA -0.02735752 0.0807358 0.9929627 0.9362894 NA 0.02668914 NA FALSE NA 0 -0.988 . intron_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 10/12 rs371369090 1 NA C:0 C:0.0003 ATC T,C 4.118e-05 5:171293853 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 intron_variant 0.113922 0.17845 0.01527 0.078448 0.7018925 0.121008 8.610177e-36 FALSE 6.909e-05 ENSE00002329692_004 ENSE00002329692 004 5 170720846 170721015 + 41 99 30 A G 170720878 2260 33 GAGACAAGGCATCTCAATCTTTATGTGATTCTGTCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293873 171293874 171293874 upstr_intron -9 -0.195122 GAGACAAGGCATCTCAATCTTTATGTGATTCTGTCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1038 437 1 0.99815 0.999075 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04668531 0.07888576 0.9929627 0.9362894 NA 0.06278554 NA FALSE NA 0.048 0.001 . intron_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 10/12 1 NA TAT A,G 0.0002141 5:171293874 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 intron_variant 0.718579 0.91637 0.01424 0.078448 0.6331211 0.352846 8.610177e-36 FALSE 0.000166546 ENSE00002329692_005 ENSE00002329692 005 5 170720846 170721015 + 41 99 30 T C 170720879 2261 34 GAGACAAGGCATCTCAATCTTTATGTGATTCTACCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293874 171293875 171293875 upstr_intron -8 -0.1707317 GAGACAAGGCATCTCAATCTTTATGTGATTCTACCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 981 618 0.9277395 0.9900825 0.958911 0.991892 0.9940335 0.9533147 0.9192642 NA NA -0.0255752 0.07081826 0.9929627 0.9362894 NA 0.02262153 NA FALSE NA 1 2.391 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RANBP17 HGNC 14428 ENST00000521759 10/12 1 NA ATC T,C 2.471e-05 5:171293875 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 splice_region_variant 0.972547 0.98792 0.61122 0.074636 0.8386376 0.969027 8.610177e-36 FALSE 5.68662e-05 ENSE00002329692_006 ENSE00002329692 006 5 170720846 170721015 + 41 99 30 C A 170720901 2262 56 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTAATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293896 171293897 171293897 exon 15 0.1515152 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTAATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 4835 684 0.9807998 0.9349215 0.9578606 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.0274851 0.01565728 0.9929627 0.9362894 NA 0.02157119 NA FALSE NA 0.998 0.952 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 1 NA TCA C,A 1.647e-05 5:171293897 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 synonymous_variant 1.852679 0.9775 0.72715 0.638212 0.7456491 0 8.610177e-36 FALSE 2.43685e-05 ENSE00002329692_007 ENSE00002329692 007 5 170720846 170721015 + 41 99 30 T C 170720917 2263 72 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCCTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293912 171293913 171293913 exon 31 0.3131313 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCCTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 918 2651 0.9650018 0.9902178 0.9776098 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.0116871 0.0709536 0.9929627 0.9362894 NA 0.04132035 NA FALSE NA 1 5.366 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 1 NA CTT T,C 8.237e-06 5:171293913 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 missense_variant 3.115652 0.98333 0.95614 0.638212 0.9968869 0 8.610177e-36 FALSE 4.06138e-06 ENSE00002329692_009 ENSE00002329692 009 5 170720846 170721015 + 41 99 30 G C 170720927 2265 82 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTCTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293922 171293923 171293923 exon 41 0.4141414 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTCTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1002 104 1 0.9954593 0.9977297 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04668531 0.07619511 0.9929627 0.9362894 NA 0.06144021 NA FALSE NA 1 8.707 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:171293923 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 missense_variant 6.039289 0.99242 0.98948 0.638212 0.9884296 0 8.610177e-36 FALSE 4.06131e-06 ENSE00002329692_010 ENSE00002329692 010 5 170720846 170721015 + 41 99 30 C A 170720929 2266 84 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTAGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293924 171293925 171293925 exon 43 0.4343434 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTAGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1254 1409 0.9998778 0.9997836 0.9998307 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04656309 0.08051943 0.9929627 0.9362894 NA 0.06354126 NA FALSE NA 1 2.145 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:171293925 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 synonymous_variant 2.496681 0.97857 0.66621 0.706298 0.6794701 0 8.610177e-36 FALSE 1.2184e-05 ENSE00002329692_011 ENSE00002329692 011 5 170720846 170721015 + 41 99 30 C T 170720929 2267 84 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTTGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293924 171293925 171293925 exon 43 0.4343434 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTTGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1886 1106 0.9992118 0.9913218 0.9952668 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04589712 0.07205764 0.9929627 0.9362894 NA 0.05897738 NA FALSE NA 1 2.145 NA NA NA RANBP17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RANBP17 NA NA NA ENSG00000204764 ENSE00003555773 missense_variant 7.6769 0.97987 0.84938 0.706298 0.9980186 0 8.610177e-36 FALSE 4.06134e-06 ENSE00002329692_012 ENSE00002329692 012 5 170720846 170721015 + 41 99 30 G A 170720930 2268 85 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCAGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293925 171293926 171293926 exon 44 0.4444444 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCAGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1778 2945 0.9999074 0.993784 0.9968457 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04659269 0.0745198 0.9929627 0.9362894 NA 0.06055625 NA FALSE NA 1 6.895 rs145801901 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 rs145801901 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGG G,A 0.0001153 5:171293926 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 missense_variant 4.891405 0.99209 0.97881 0.638212 0.9995224 0 8.610177e-36 FALSE 9.34078e-05 ENSE00002329692_013 ENSE00002329692 013 5 170720846 170721015 + 41 99 30 G C 170720952 2269 107 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGCCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293947 171293948 171293948 exon -34 0.6666667 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGCCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 756 1567 0.9488294 0.9880232 0.9684263 0.991892 0.9940335 0.9533147 0.9192642 NA NA -0.004485284 0.06875905 0.9929627 0.9362894 NA 0.03213688 NA FALSE NA 1 2.975 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 rs374592064 1 NA T:0 T:0.0001 GGC G,C 8.236e-06 5:171293948 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 missense_variant 4.502235 0.97549 0.90784 0.706298 0.9983376 0 8.610177e-36 FALSE 4.06121e-06 ENSE00002329692_014 ENSE00002329692 014 5 170720846 170721015 + 41 99 30 C G 170720959 2270 114 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCGTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293954 171293955 171293955 exon -27 0.7373737 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCGTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1805 526 0.9905133 0.9959434 0.9932283 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.0371986 0.07667917 0.9929627 0.9362894 NA 0.05693889 NA FALSE NA 0.998 2.107 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 1 NA CCT C,G 8.236e-06 5:171293955 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 missense_variant 6.24071 0.9875 0.94991 0.706298 0.9987786 0 8.610177e-36 FALSE 8.12262e-06 ENSE00002329692_015 ENSE00002329692 015 5 170720846 170721015 + 41 99 30 G A 170720961 2271 116 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTAGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293956 171293957 171293957 exon -25 0.7575758 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTAGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 808 1085 0.9994896 1 0.9997448 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04617487 0.0807358 0.9929627 0.9362894 NA 0.06345534 NA FALSE NA 0.999 0.486 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 rs368050838 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 TGG G,A 0.0003542 5:171293957 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 synonymous_variant 1.221869 0.97731 0.79566 0.706298 0.7654889 0 8.610177e-36 FALSE 0.000349273 ENSE00002329692_016 ENSE00002329692 016 5 170720846 170721015 + 41 99 30 G A 170720973 2272 128 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTACTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293968 171293969 171293969 exon -13 0.8787879 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTACTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 614 251 0.9940932 1 0.9970466 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04077848 0.0807358 0.9929627 0.9362894 NA 0.06075714 NA FALSE NA 0.998 0.371 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 1 NA TGC G,A 8.236e-06 5:171293969 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 synonymous_variant 1.161824 0.96812 0.82007 0.706298 0.7257381 0 8.610177e-36 FALSE 4.06171e-06 ENSE00002329692_017 ENSE00002329692 017 5 170720846 170721015 + 41 99 30 C T 170720976 2273 131 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTTAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293971 171293972 171293972 exon -10 0.9090909 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTTAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 913 451 1 0.9955355 0.9977677 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04668531 0.07627126 0.9929627 0.9362894 NA 0.06147828 NA FALSE NA 0.977 0.031 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 1 NA TCA C,T 8.236e-06 5:171293972 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 synonymous_variant 1.573603 0.96535 0.70383 0.706298 0.743165 0 8.610177e-36 FALSE 8.12374e-06 ENSE00002329692_018 ENSE00002329692 018 5 170720846 170721015 + 41 99 30 A C 170720978 2274 133 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCACTGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293973 171293974 171293974 exon -8 0.9292929 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCACTGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1115 965 0.820322 0.8417 0.831011 0.991892 0.9940335 0.9533147 0.9192642 NA NA -0.1329927 -0.07756424 0.9929627 0.9362894 NA -0.1052785 NA FALSE NA 1 8.231 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/13 1 NA AAT A,C 8.236e-06 5:171293974 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 missense_variant 4.358034 0.99387 0.9922 0.706298 0.989613 0 8.610177e-36 FALSE 4.062e-06 ENSE00002329692_019 ENSE00002329692 019 5 170720846 170721015 + 41 99 30 G A 170720985 2275 140 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAAGTGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293980 171293981 171293981 exon -1 1 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAAGTGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1631 1325 0.9985761 0.9872559 0.992916 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.0452614 0.06799172 0.9929627 0.9362894 NA 0.05662656 NA FALSE NA 1 3.271 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW RANBP17 HGNC 14428 ENST00000521759 11/13 1 NA AGG G,A 8.236e-06 5:171293981 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 splice_region_variant 1.726941 0.98871 0.92817 0.706298 0.9239981 0 8.610177e-36 FALSE 4.0622e-06 ENSE00002329692_021 ENSE00002329692 021 5 170720846 170721015 + 41 99 30 G T 170720988 2277 143 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTTAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293983 171293984 171293984 downstr_intron 3 1.103448 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTTAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1478 1811 0.9234515 0.916478 0.9199647 0.991892 0.9940335 0.9533147 0.9192642 NA NA -0.02986318 -0.002786203 0.9929627 0.9362894 NA -0.01632469 NA FALSE NA 0.979 0.156 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RANBP17 HGNC 14428 ENST00000521759 11/12 1 NA TGA G,T 8.236e-06 5:171293984 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 splice_region_variant 1.188508 0.96703 0.77773 0.074636 0.6732074 0.626294 8.610177e-36 FALSE 4.06217e-06 ENSE00002329692_022 ENSE00002329692 022 5 170720846 170721015 + 41 99 30 G A 170720990 2278 145 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAATGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 171293985 171293986 171293986 downstr_intron 5 1.172414 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAATGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 546 1388 0.9954785 0.9975996 0.9965391 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.04216386 0.07833542 0.9929627 0.9362894 NA 0.06024964 NA FALSE NA 1 4.05 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RANBP17 HGNC 14428 ENST00000521759 11/12 1 NA AGT G,A 1.647e-05 5:171293986 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 splice_region_variant 1.540117 0.98721 0.73382 0.074636 0.8969212 0.988774 8.610177e-36 FALSE 8.12447e-06 ENSE00002329692_023 ENSE00002329692 023 5 170720846 170721015 + 41 99 30 A T 170721004 2279 159 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGATGTCACGGGAGG 171293841 171294011 171293999 171294000 171294000 downstr_intron 19 1.655172 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGATGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 1587 4412 0.9546937 0.9763755 0.9655346 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.00137897 0.05711126 0.9929627 0.9362894 NA 0.02924511 NA FALSE NA 0 -0.047 . intron_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/12 rs535828794 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 AAG A,T 1.647e-05 5:171294000 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 intron_variant 0.135607 0.17027 0.04298 0.074636 0.5884027 0.0448725 8.610177e-36 FALSE 8.1277e-06 ENSE00002329692_024 ENSE00002329692 024 5 170720846 170721015 + 41 99 30 G A 170721005 2280 160 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAATCACGGGAGG 171293841 171294011 171294000 171294001 171294001 downstr_intron 20 1.689655 GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAATCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG mutant NA NA NA NA NA 3317 1353 0.9883149 0.9981873 0.9932511 0.991892 0.9940335 0.9533147 0.9192642 NA NA 0.03500023 0.07892311 0.9929627 0.9362894 NA 0.05696167 NA FALSE NA 0.001 0.991 . intron_variant&non_coding_transcript_variant MODIFIER RANBP17 HGNC 14428 ENST00000521759 11/12 1 NA AGT G,A 8.236e-06 5:171294001 RANBP17 HGNC Symbol protein_coding 438145 ENSG00000204764 ENSE00003555773 intron_variant 0.320211 0.1472 0.02581 0.074636 0.5132457 0.0448725 8.610177e-36 FALSE 4.06405e-06 ENSE00002329692_BRK ENSE00002329692 BRK 5 170720846 170721015 + 41 99 30 A,G; T,T NA NA NA GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTTTATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGCCGAGTGTGATTGCAGGAAGTCACGGGAGG 171293841 171294011 NA NA NA NA NA NA GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTTTATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGCCGAGTGTGATTGCAGGAAGTCACGGGAGG GAGACAAGGCATCTCAATCTTTATGTGATTCTATCTTCTAGATGATGTCTGTCCTCATGAACACCATTGTCTTTGAAGACTGTCGGAACCAGTGGTCAGTATCCAGGCCTCTCCTGGGGCTCATCCTGCTCAATGAGAAGGTGAGTGTGATTGCAGGAAGTCACGGGAGG control 148 48 0.008873261 0 0.004436631 1594 162 0 0.1421421 0.07107105 0.991892 0.9940335 0.9533147 0.9192642 -0.9830187 -0.9940335 -0.9533147 -0.7771221 0.9929627 0.9362894 -0.9885261 -0.8652184 0.1233077 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003555773 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00002329756_000 ENSE00002329756 000 2 234371245 234371414 + 44 93 33 NA NA NA NA NA GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 NA NA NA NA NA NA GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG natural 19 46 0.9824861 0.9012722 0.9418792 688 1316 0.8421299 0.9901999 0.9161649 0.9824861 0.9012722 0.8421299 0.9901999 0 0 0 0 0.9418792 0.9161649 0 0 0 FALSE FALSE NA NA NA NA NA DGKD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKD NA NA NA ENSG00000077044 ENSE00003555974 NA NA NA NA NA NA NA 0.9770706 TRUE NA ENSE00002329756_002 ENSE00002329756 002 2 234371245 234371414 + 44 93 33 C T 234371259 5433 15 GTTCGGCCCCCCGCTCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462612 233462613 233462613 upstr_intron -30 -0.6590909 GTTCGGCCCCCCGCTCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 47 479 1 0.9974984 0.9987492 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1578701 0.0072985 0.9418792 0.9161649 NA 0.0825843 NA FALSE NA 0.003 -0.065 . downstream_gene_variant MODIFIER DGKD HGNC 2851 ENST00000471764 1 NA CCC C,T 2.471e-05 2:233462613 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 intron_variant -0.107698 0.16943 0.03128 0.115753 0.7113789 0.0476178 0.9770706 TRUE 2.0327e-05 ENSE00002329756_003 ENSE00002329756 003 2 234371245 234371414 + 44 93 33 C T 234371261 5434 17 GTTCGGCCCCCCGCCCTCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462614 233462615 233462615 upstr_intron -28 -0.6136364 GTTCGGCCCCCCGCCCTCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 313 460 0.9505043 0.8918502 0.9211772 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1083744 -0.09834967 0.9418792 0.9161649 NA 0.005012355 NA FALSE NA 0.001 -0.694 . downstream_gene_variant MODIFIER DGKD HGNC 2851 ENST00000471764 1 NA CCC C,T 8.236e-06 2:233462615 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 intron_variant -0.240394 0.21939 0.01098 0.115753 0.6768417 0.0476178 0.9770706 TRUE 4.06375e-06 ENSE00002329756_005 ENSE00002329756 005 2 234371245 234371414 + 44 93 33 A G 234371263 5436 19 GTTCGGCCCCCCGCCCCCGTGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462616 233462617 233462617 upstr_intron -26 -0.5681818 GTTCGGCCCCCCGCCCCCGTGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 20 141 0.9846455 0.9896523 0.9871489 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1425156 -0.0005475391 0.9418792 0.9161649 NA 0.07098403 NA FALSE NA 0.007 0.54 . downstream_gene_variant MODIFIER DGKD HGNC 2851 ENST00000471764 rs372462240 1 NA G:0 G:0.0001 CAT A,G 8.236e-06 2:233462617 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 intron_variant -0.060476 0.15464 0.02454 0.115753 0.1955261 0.0476178 0.9770706 TRUE 8.1275e-06 ENSE00002329756_007 ENSE00002329756 007 2 234371245 234371414 + 44 93 33 C T 234371275 5438 31 GTTCGGCCCCCCGCCCCCATGCATATTTGCTTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462628 233462629 233462629 upstr_intron -14 -0.2954545 GTTCGGCCCCCCGCCCCCATGCATATTTGCTTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 39 91 0.971291 0.9974506 0.9843708 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1291611 0.007250748 0.9418792 0.9161649 NA 0.06820593 NA FALSE NA 0 -0.443 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:233462629 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 intron_variant -0.220174 0.1589 0.00831 0.115753 0.3856233 0.0476178 0.9770706 TRUE 4.0621e-06 ENSE00002329756_008 ENSE00002329756 008 2 234371245 234371414 + 44 93 33 C G 234371275 5439 31 GTTCGGCCCCCCGCCCCCATGCATATTTGCGTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462628 233462629 233462629 upstr_intron -14 -0.2954545 GTTCGGCCCCCCGCCCCCATGCATATTTGCGTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 10 124 0.9958105 0.9631021 0.9794563 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1536806 -0.02709774 0.9418792 0.9161649 NA 0.06329145 NA FALSE NA 0 -0.443 NA NA NA DGKD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKD NA NA NA ENSG00000077044 ENSE00003555974 intron_variant -0.311367 0.18401 0.01238 0.115753 0.3482647 0.0476178 0.9770706 TRUE 8.1242e-06 ENSE00002329756_011 ENSE00002329756 011 2 234371245 234371414 + 44 93 33 A G 234371296 5442 52 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAGCTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462649 233462650 233462650 exon 8 0.08602151 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAGCTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 138 200 0.9984993 0.9957008 0.9971001 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1563694 0.005500934 0.9418792 0.9161649 NA 0.08093518 NA FALSE NA 0.736 0.324 . downstream_gene_variant MODIFIER DGKD HGNC 2851 ENST00000471764 rs201384247 1 G:0.0032 G:0 G:0 NA G:0 G:0 G:0.0164 AAC A,G 0.003015 2:233462650 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 missense_variant -0.628065 0.8727 0.59331 0.706298 0.2033787 0 0.9770706 TRUE 0.00259128 ENSE00002329756_012 ENSE00002329756 012 2 234371245 234371414 + 44 93 33 G A 234371299 5443 55 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTACAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462652 233462653 233462653 exon 11 0.1182796 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTACAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 496 21 0.9987488 1 0.9993744 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1566188 0.009800129 0.9418792 0.9161649 NA 0.08320949 NA FALSE NA 1 7.472 . downstream_gene_variant MODIFIER DGKD HGNC 2851 ENST00000471764 rs201961866 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGC G,A 8.236e-06 2:233462653 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 missense_variant 2.853248 0.9427 0.94715 0.706298 0.943175 0 0.9770706 TRUE NA ENSE00002329756_015 ENSE00002329756 015 2 234371245 234371414 + 44 93 33 C T 234371306 5446 62 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTTGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462659 233462660 233462660 exon 18 0.1935484 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTTGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 392 55 0.9984326 1 0.9992163 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1563027 0.009800129 0.9418792 0.9161649 NA 0.08305142 NA FALSE NA 0.008 -0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:233462660 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 synonymous_variant 2.364446 0.63326 0.2622 0.706298 0.6941194 0 0.9770706 TRUE 2.84303e-05 ENSE00002329756_023 ENSE00002329756 023 2 234371245 234371414 + 44 93 33 C A 234371340 5454 96 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGAGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG 233462598 233462768 233462693 233462694 233462694 exon -42 0.5591398 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGAGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 44 45 1 1 1 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1578701 0.009800129 0.9418792 0.9161649 NA 0.08383511 NA FALSE NA 1 3.007 NA NA NA DGKD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:233462694 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 missense_variant 4.446641 0.94361 0.87022 0.706298 0.9943135 0 0.9770706 TRUE 4.06312e-06 ENSE00002329756_032 ENSE00002329756 032 2 234371245 234371414 + 44 93 33 G C 234371399 5463 155 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGCGACAGCAGGGCTCGG 233462598 233462768 233462752 233462753 233462753 downstr_intron 18 1.5625 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGCGACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 172 69 0.998313 1 0.9991565 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1561831 0.009800129 0.9418792 0.9161649 NA 0.08299162 NA FALSE NA 0 -0.214 . downstream_gene_variant MODIFIER DGKD HGNC 2851 ENST00000471764 1 NA GGG G,C 0.0001318 2:233462753 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 intron_variant -0.461913 0.20596 0.0125 0.115753 0.3397648 0.0489367 0.9770706 TRUE 0.000191826 ENSE00002329756_033 ENSE00002329756 033 2 234371245 234371414 + 44 93 33 G A 234371400 5464 156 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGAACAGCAGGGCTCGG 233462598 233462768 233462753 233462754 233462754 downstr_intron 19 1.59375 GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGAACAGCAGGGCTCGG GTTCGGCCCCCCGCCCCCATGCATATTTGCCTGGTTTCTTCTAGGGGCTCAACTGCAGCTTCGTCCTGGAAATGGTGAATAACTTCAGAGCTCTGCGCAGTGAGACGGAGCTGCTGCTGTCTGGGAAGATGGCCCTGGTAAGCTGGTGCCCCAGGGACAGCAGGGCTCGG mutant NA NA NA NA NA 10 172 1 1 1 0.9824861 0.9012722 0.8421299 0.9901999 NA NA 0.1578701 0.009800129 0.9418792 0.9161649 NA 0.08383511 NA FALSE NA 0.001 0.251 . downstream_gene_variant MODIFIER DGKD HGNC 2851 ENST00000471764 1 NA GGA G,A 8.236e-06 2:233462754 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003555974 intron_variant -0.449497 0.13155 0.01593 0.115753 0.5904457 0.0489367 0.9770706 TRUE NA ENSE00002330434_000 ENSE00002330434 000 2 219456986 219457155 + 41 99 30 NA NA NA NA NA CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC 218592262 218592432 NA NA NA NA NA NA CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC natural NA NA NA NA NA 705 888 0.984149 0.9916623 0.9879057 NA NA 0.984149 0.9916623 NA NA 0 0 NA 0.9879057 NA 0 NA FALSE NA NA NA NA NA NA RQCD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNOT9 NA NA NA ENSG00000144580 ENSE00003521850 NA NA NA NA NA NA NA NA NA NA ENSE00002330434_001 ENSE00002330434 001 2 219456986 219457155 + 41 99 30 C T 219457008 4644 23 CTGAGCAACTTTATAAACTCTTTGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC 218592262 218592432 218592284 218592285 218592285 upstr_intron -19 -0.4390244 CTGAGCAACTTTATAAACTCTTTGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC mutant NA NA NA NA NA 234 1258 1 1 1 NA NA 0.984149 0.9916623 NA NA 0.01585097 0.008337703 NA 0.9879057 NA 0.01209434 NA FALSE NA 0.01 0 . upstream_gene_variant MODIFIER RQCD1 HGNC 10445 ENST00000418808 1 NA TCG C,T 4.118e-05 2:218592285 CNOT9 HGNC Symbol protein_coding 28500 ENSG00000144580 ENSE00003521850 intron_variant 0.239584 0.13016 0.00176 0.295142 0.4863687 0.046875 NA NA 2.4731e-05 ENSE00002330434_006 ENSE00002330434 006 2 219456986 219457155 + 41 99 30 A G 219457081 4649 96 CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATGTATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC 218592262 218592432 218592357 218592358 218592358 exon -45 0.5555556 CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATGTATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC mutant NA NA NA NA NA 194 285 0.9956786 0.9993295 0.9975041 NA NA 0.984149 0.9916623 NA NA 0.01152954 0.007667233 NA 0.9879057 NA 0.009598386 NA FALSE NA 1 9.101 . missense_variant MODERATE RQCD1 HGNC 10445 ENST00000418808 1/3 1 tolerated(0.42) benign(0.071) NA TAT A,G 8.236e-06 2:218592358 CNOT9 HGNC Symbol protein_coding 28500 ENSG00000144580 ENSE00003521850 missense_variant 1.917278 0.9934 0.99192 0.706548 0.9799686 0 NA NA 4.0623e-06 ENSE00002330434_007 ENSE00002330434 007 2 219456986 219457155 + 41 99 30 G A 219457092 4650 107 CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACATATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC 218592262 218592432 218592368 218592369 218592369 exon -34 0.6666667 CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACATATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC mutant NA NA NA NA NA 25 107 1 0.9985191 0.9992595 NA NA 0.984149 0.9916623 NA NA 0.01585097 0.006856755 NA 0.9879057 NA 0.01135386 NA FALSE NA 0 -2.444 . synonymous_variant LOW RQCD1 HGNC 10445 ENST00000418808 1/3 COSM3838596 1 NA CGT G,A 1.647e-05 2:218592369 CNOT9 HGNC Symbol protein_coding 28500 ENSG00000144580 ENSE00003521850 synonymous_variant 1.620297 0.94041 0.10566 0.706548 0.7808018 0 NA NA 2.03135e-05 ENSE00002330434_008 ENSE00002330434 008 2 219456986 219457155 + 41 99 30 T C 219457124 4651 139 CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTCGGTGAGTTCTTTCATCTATCCCCTTTACAAC 218592262 218592432 218592400 218592401 218592401 exon -2 0.989899 CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTCGGTGAGTTCTTTCATCTATCCCCTTTACAAC CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC mutant NA NA NA NA NA 599 12 0.997219 0.9865868 0.9919029 NA NA 0.984149 0.9916623 NA NA 0.01306998 -0.005075479 NA 0.9879057 NA 0.003997251 NA FALSE NA 1 7.835 . missense_variant&splice_region_variant MODERATE RQCD1 HGNC 10445 ENST00000418808 1/3 1 deleterious(0) probably_damaging(1) NA TTG T,C 8.236e-06 2:218592401 CNOT9 HGNC Symbol protein_coding 28500 ENSG00000144580 ENSE00003521850 missense_variant 5.898876 0.99326 0.987 0.706548 0.9985093 0 NA NA NA ENSE00002330434_010 ENSE00002330434 010 2 219456986 219457155 + 41 99 30 A G 219457142 4653 157 CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTGTCCCCTTTACAAC 218592262 218592432 218592418 218592419 218592419 downstr_intron 17 1.586207 CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTGTCCCCTTTACAAC CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC mutant NA NA NA NA NA 748 38 0.9973851 0.95 0.9736925 NA NA 0.984149 0.9916623 NA NA 0.01323606 -0.0416623 NA 0.9879057 NA -0.01421312 NA FALSE NA 0 -0.97 . intron_variant MODIFIER RQCD1 HGNC 10445 ENST00000418808 1/2 rs200156712 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 G:0 G:0.0001 TAT A,G 8.236e-05 2:218592419 CNOT9 HGNC Symbol protein_coding 28500 ENSG00000144580 ENSE00003521850 intron_variant -0.322808 0.19959 0.03048 0.156188 0.4957709 0.108196 NA NA 0.000109783 ENSE00002330434_BRK ENSE00002330434 BRK 2 219456986 219457155 + 41 99 30 A,G; T,T NA NA NA CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCTTGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGCCGAGTTCTTTCATCTATCCCCTTTACAAC 218592262 218592432 NA NA NA NA NA NA CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCTTGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGCCGAGTTCTTTCATCTATCCCCTTTACAAC CTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAAC control NA NA NA NA NA 2541 831 0.001895175 0.0006085059 0.00125184 NA NA 0.984149 0.9916623 NA NA -0.9822539 -0.9910538 NA 0.9879057 NA -0.9866538 NA TRUE NA NA NA NA NA NA RQCD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNOT9 NA NA NA ENSG00000144580 ENSE00003521850 NA NA NA NA NA NA NA NA NA NA ENSE00002330523_000 ENSE00002330523 000 5 96097937 96098106 + 41 99 30 NA NA NA NA NA TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 NA NA NA NA NA NA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA natural NA NA NA NA NA 2989 2389 0.9765241 0.9807461 0.9786351 NA NA 0.9765241 0.9807461 NA NA 0 0 NA 0.9786351 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003584245 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00002330523_027 ENSE00002330523 027 5 96097937 96098106 + 41 99 30 G A 96098066 864 130 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCATGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762361 96762362 96762362 exon -11 0.8989899 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCATGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 56 668 0.8497206 0.9557169 0.9027188 NA NA 0.9765241 0.9807461 NA NA -0.1268035 -0.0250292 NA 0.9786351 NA -0.07591637 NA FALSE NA 0.001 0.375 NA NA NA CAST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAST NA NA NA ENSG00000153113 ENSE00003584245 missense_variant 3.713313 0.81053 0.05448 0.732398 0.9729537 0 1.555758e-06 FALSE 1.29997e-05 ENSE00002330523_BRK ENSE00002330523 BRK 5 96097937 96098106 + 41 99 30 A,G; T,T NA NA NA TTTATCTCCCAAATAAGATGTGCTGCTTGGCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTAATTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 NA NA NA NA NA NA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAATTAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGCCAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA control 10 104 0 0 0 NA NA NA NA NA NA NA 0.9765241 0.9807461 NA NA NA NA NA 0.9786351 NA NA NA NA NA NA NA NA NA NA CAST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAST NA NA NA ENSG00000153113 ENSE00003584245 NA NA NA NA NA NA NA 1.555758e-06 FALSE NA ENSE00002330674_000 ENSE00002330674 000 6 109323434 109323603 - 47 66 57 NA NA NA NA NA CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA 109002230 109002400 NA NA NA NA NA NA CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA natural NA NA NA NA NA 1399 2400 0.9433665 0.9779194 0.9606429 NA NA 0.9433665 0.9779194 NA NA 0 0 NA 0.9606429 NA 0 NA FALSE NA NA NA NA NA NA RP11-787I22.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SESN1 NA NA NA ENSG00000080546 ENSE00003663229 NA NA NA NA NA NA NA 0.0006382478 FALSE NA ENSE00002330674_002 ENSE00002330674 002 6 109323434 109323603 - 47 66 57 C T 109323454 2087 150 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTAAACTGTATGCTTTTAAGGAA 109002230 109002400 109002250 109002251 109002251 downstr_intron 27 1.586957 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTAAACTGTATGCTTTTAAGGAA CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA mutant NA NA NA NA NA 793 110 1 1 1 NA NA 0.9433665 0.9779194 NA NA 0.05663346 0.02208065 NA 0.9606429 NA 0.03935705 NA FALSE NA 0.997 1.92 . downstream_gene_variant MODIFIER RP11-787I22.3 Clone_based_vega_gene NA ENST00000605885 1 NA TCA C,T 1.647e-05 6:109002251 SESN1 HGNC Symbol protein_coding 108382 ENSG00000080546 ENSE00003663229 intron_variant 0.299547 0.91025 0.79807 0.084033 0.6368379 0.462903 0.0006382478 FALSE NA ENSE00002330674_003 ENSE00002330674 003 6 109323434 109323603 - 47 66 57 C T 109323456 2088 148 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAATGAACTGTATGCTTTTAAGGAA 109002230 109002400 109002252 109002253 109002253 downstr_intron 25 1.543478 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAATGAACTGTATGCTTTTAAGGAA CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA mutant NA NA NA NA NA 489 464 1 0.9905285 0.9952642 NA NA 0.9433665 0.9779194 NA NA 0.05663346 0.01260914 NA 0.9606429 NA 0.0346213 NA FALSE NA 0.92 1.327 . downstream_gene_variant MODIFIER RP11-787I22.3 Clone_based_vega_gene NA ENST00000605885 1 NA ACT C,T 8.236e-06 6:109002253 SESN1 HGNC Symbol protein_coding 108382 ENSG00000080546 ENSE00003663229 intron_variant 0.424793 0.92185 0.69449 0.084033 0.6501024 0.462903 0.0006382478 FALSE 8.13425e-06 ENSE00002330674_005 ENSE00002330674 005 6 109323434 109323603 - 47 66 57 A G 109323474 2090 130 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTCGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA 109002230 109002400 109002270 109002271 109002271 downstr_intron 7 1.152174 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTCGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA mutant NA NA NA NA NA 47 299 1 1 1 NA NA 0.9433665 0.9779194 NA NA 0.05663346 0.02208065 NA 0.9606429 NA 0.03935705 NA FALSE NA 0.73 0.615 . downstream_gene_variant MODIFIER RP11-787I22.3 Clone_based_vega_gene NA ENST00000605885 1 NA CAA A,G 8.236e-06 6:109002271 SESN1 HGNC Symbol protein_coding 108382 ENSG00000080546 ENSE00003663229 splice_region_variant 0.622041 0.86463 0.56609 0.084033 0.7791256 0.538233 0.0006382478 FALSE 4.06425e-06 ENSE00002330674_009 ENSE00002330674 009 6 109323434 109323603 - 47 66 57 G A 109323492 2094 112 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCTCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA 109002230 109002400 109002288 109002289 109002289 exon -12 0.8333333 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCTCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA mutant NA NA NA NA NA 181 14 1 1 1 NA NA 0.9433665 0.9779194 NA NA 0.05663346 0.02208065 NA 0.9606429 NA 0.03935705 NA FALSE NA 1 9.358 . downstream_gene_variant MODIFIER RP11-787I22.3 Clone_based_vega_gene NA ENST00000605885 1 NA GGG G,A 1.647e-05 6:109002289 SESN1 HGNC Symbol protein_coding 108382 ENSG00000080546 ENSE00003663229 missense_variant 5.299569 0.97295 0.97229 0.736574 0.9990586 0 0.0006382478 FALSE 1.21904e-05 ENSE00002330674_015 ENSE00002330674 015 6 109323434 109323603 - 47 66 57 C G 109323540 2100 64 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTCGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA 109002230 109002400 109002336 109002337 109002337 exon 7 0.1060606 CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTCGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA CCTCAGTTCATTTTGTTTACTGCCAAAGGCCTGAGATGGTGTAATTTTCTTTTCTAGGAACTTGGCATTAGAATTCCTCGACCACTAGGACAGGGACCAAGCAGATTCATCCCAGAAAAGGAGGTACGTTGTTTGTGAAAGTACATAGTGAACTGTATGCTTTTAAGGAA mutant NA NA NA NA NA 27 307 1 1 1 NA NA 0.9433665 0.9779194 NA NA 0.05663346 0.02208065 NA 0.9606429 NA 0.03935705 NA FALSE NA 1 7.397 rs146922968 downstream_gene_variant MODIFIER RP11-787I22.3 Clone_based_vega_gene NA ENST00000605885 rs146922968 1 NA G:0.0005 G:0 CCA C,G 3.295e-05 6:109002337 SESN1 HGNC Symbol protein_coding 108382 ENSG00000080546 ENSE00003663229 missense_variant 4.55583 0.97338 0.96778 0.736574 0.9989063 0 0.0006382478 FALSE 1.62579e-05 ENSE00002330984_000 ENSE00002330984 000 3 185369840 185370009 - 42 75 53 NA NA NA NA NA GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 NA NA NA NA NA NA GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC natural 53 63 0.9864814 0.9946377 0.9905596 1276 1671 0.9393553 0.8787487 0.909052 0.9864814 0.9946377 0.9393553 0.8787487 0 0 0 0 0.9905596 0.909052 0 0 0 FALSE FALSE NA NA NA NA NA IGF2BP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IGF2BP2 NA NA NA ENSG00000073792 ENSE00003557901 NA NA NA NA NA NA NA 0.9421241 TRUE NA ENSE00002330984_001 ENSE00002330984 001 3 185369840 185370009 - 42 75 53 G A 185369857 3971 153 GTGCCCAGAGCCTGCAGAGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652068 185652069 185652069 downstr_intron 25 1.609756 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCTCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 210 691 1 0.9985551 0.9992775 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06064472 0.1198064 0.9905596 0.909052 NA 0.09022556 NA FALSE NA 0.589 1.129 . intron_variant MODIFIER IGF2BP2 HGNC 28867 ENST00000421047 12/14 1 NA GGG G,A 8.237e-06 3:185652069 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 intron_variant 0.734925 0.38836 0.32139 0.067858 0.8303447 0.124093 0.9421241 TRUE NA ENSE00002330984_003 ENSE00002330984 003 3 185369840 185370009 - 42 75 53 G A 185369864 3973 146 GTGCCCAGAGCCTGCAGGGCTGAGATGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652075 185652076 185652076 downstr_intron 18 1.439024 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACATCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 81 411 1 0.9433302 0.9716651 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06064472 0.06458156 0.9905596 0.909052 NA 0.06261314 NA FALSE NA 0.039 2.183 . intron_variant MODIFIER IGF2BP2 HGNC 28867 ENST00000421047 12/14 1 NA GGT G,A 8.237e-06 3:185652076 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 intron_variant 0.760336 0.22083 0.08782 0.067858 0.7857764 0.101141 0.9421241 TRUE 4.11648e-06 ENSE00002330984_004 ENSE00002330984 004 3 185369840 185370009 - 42 75 53 T A 185369878 3974 132 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACAAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652089 185652090 185652090 downstr_intron 4 1.097561 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTTGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 581 503 0.9719383 0.9902164 0.9810773 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.03258298 0.1114677 0.9905596 0.909052 NA 0.07202536 NA FALSE NA 1 3.625 . splice_region_variant&intron_variant LOW IGF2BP2 HGNC 28867 ENST00000421047 12/14 1 NA CTA T,A 8.237e-06 3:185652090 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 splice_region_variant 2.165592 0.92976 0.80504 0.069865 0.956044 0.867926 0.9421241 TRUE 4.07977e-06 ENSE00002330984_005 ENSE00002330984 005 3 185369840 185370009 - 42 75 53 A G 185369880 3975 130 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAGCCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652091 185652092 185652092 downstr_intron 2 1.04878 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGCTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 52 333 0.1724554 0.0261891 0.09932225 0.9864814 0.9946377 0.9393553 0.8787487 NA NA -0.7668999 -0.8525596 0.9905596 0.909052 NA -0.8097297 NA TRUE NA 1 9.21 . splice_donor_variant HIGH IGF2BP2 HGNC 28867 ENST00000421047 12/14 1 NA HC AAC A,G 8.237e-06 3:185652092 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 splice_donor_variant 4.900719 0.95578 0.97129 0.115753 0.9946333 0.906727 0.9421241 TRUE 4.07717e-06 ENSE00002330984_006 ENSE00002330984 006 3 185369840 185370009 - 42 75 53 T C 185369894 3976 116 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCCTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652105 185652106 185652106 exon -13 0.84 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAGGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 1801 420 0.9853474 0.8619125 0.9236299 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.0459921 -0.01683622 0.9905596 0.909052 NA 0.01457794 NA FALSE NA 1 1.083 . synonymous_variant LOW IGF2BP2 HGNC 28867 ENST00000421047 12/15 rs555886453 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTT T,C 0.0001483 3:185652106 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 synonymous_variant -0.106395 0.90059 0.67677 0.67177 0.5792041 0 0.9421241 TRUE 0.000122144 ENSE00002330984_008 ENSE00002330984 008 3 185369840 185370009 - 42 75 53 C T 185369903 3978 107 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGTCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652114 185652115 185652115 exon -22 0.72 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGACCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 381 1040 1 0.826292 0.913146 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06064472 -0.05245664 0.9905596 0.909052 NA 0.00409404 NA FALSE NA 0.059 -0.378 . synonymous_variant LOW IGF2BP2 HGNC 28867 ENST00000421047 12/15 1 NA GCC C,T 8.237e-06 3:185652115 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 synonymous_variant 1.286335 0.61006 0.18106 0.67177 0.5966616 0 0.9421241 TRUE NA ENSE00002330984_009 ENSE00002330984 009 3 185369840 185370009 - 42 75 53 G A 185369906 3979 104 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCAGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652117 185652118 185652118 exon -25 0.68 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACTGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 219 512 1 0.987069 0.9935345 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06064472 0.1083203 0.9905596 0.909052 NA 0.0844825 NA FALSE NA 0.002 -1.034 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:185652118 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 synonymous_variant 1.500127 0.86872 0.17322 0.67177 0.6344775 0 0.9421241 TRUE 2.03523e-05 ENSE00002330984_010 ENSE00002330984 010 3 185369840 185370009 - 42 75 53 G C 185369906 3980 104 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCCGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652117 185652118 185652118 exon -25 0.68 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACGGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 486 89 0.9946565 1 0.9973282 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.05530118 0.1212513 0.9905596 0.909052 NA 0.08827625 NA FALSE NA 0.002 -1.034 NA NA NA IGF2BP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IGF2BP2 NA NA NA ENSG00000073792 ENSE00003557901 synonymous_variant 1.194725 0.87393 0.22086 0.67177 0.5147516 0 0.9421241 TRUE 2.03523e-05 ENSE00002330984_011 ENSE00002330984 011 3 185369840 185370009 - 42 75 53 T C 185369914 3981 96 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGACGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652125 185652126 185652126 exon -33 0.5733333 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCGTCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 62 112 1 1 1 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06064472 0.1212513 0.9905596 0.909052 NA 0.09094802 NA FALSE NA 1 5.069 . missense_variant MODERATE IGF2BP2 HGNC 28867 ENST00000421047 12/15 1 benign(0.007) NA ATG T,C 8.236e-06 3:185652126 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 missense_variant 1.728879 0.93547 0.90795 0.67177 0.9905944 0 0.9421241 TRUE 8.1361e-06 ENSE00002330984_012 ENSE00002330984 012 3 185369840 185370009 - 42 75 53 C T 185369917 3982 93 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGATCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652128 185652129 185652129 exon -36 0.5333333 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGATCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 34 710 0.9987833 0.9928754 0.9958293 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.059428 0.1141267 0.9905596 0.909052 NA 0.08677737 NA FALSE NA 1 7.713 . missense_variant MODERATE IGF2BP2 HGNC 28867 ENST00000421047 12/15 rs544265799 1 probably_damaging(0.99) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACC C,T 0.0003212 3:185652129 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 missense_variant 5.727284 0.96324 0.95988 0.67177 0.9986983 0 0.9421241 TRUE 0.000345776 ENSE00002330984_014 ENSE00002330984 014 3 185369840 185370009 - 42 75 53 C T 185369926 3984 84 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTTGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652137 185652138 185652138 exon 31 0.4133333 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCAAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 308 274 1 1 1 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06064472 0.1212513 0.9905596 0.909052 NA 0.09094802 NA FALSE NA 0.937 3.004 . missense_variant MODERATE IGF2BP2 HGNC 28867 ENST00000421047 12/15 1 possibly_damaging(0.629) NA TCG C,T 1.647e-05 3:185652138 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 missense_variant 5.915576 0.90547 0.87238 0.67177 0.9980595 0 0.9421241 TRUE 8.13557e-06 ENSE00002330984_017 ENSE00002330984 017 3 185369840 185370009 - 42 75 53 G A 185369937 3987 73 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTAGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652148 185652149 185652149 exon 20 0.2666667 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCTAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 289 481 0.9740939 0.9999208 0.9870074 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.03473867 0.1211722 0.9905596 0.909052 NA 0.07795542 NA FALSE NA 1 4.693 . missense_variant MODERATE IGF2BP2 HGNC 28867 ENST00000421047 12/15 1 possibly_damaging(0.816) NA TGG G,A 8.236e-06 3:185652149 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 missense_variant 5.703439 0.94736 0.91359 0.67177 0.9962944 0 0.9421241 TRUE NA ENSE00002330984_019 ENSE00002330984 019 3 185369840 185370009 - 42 75 53 G A 185369946 3989 64 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCACAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652157 185652158 185652158 exon 11 0.1466667 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGTGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 170 296 0.9997577 0.9998713 0.9998145 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06040239 0.1211226 0.9905596 0.909052 NA 0.09076252 NA FALSE NA 1 9.732 . missense_variant MODERATE IGF2BP2 HGNC 28867 ENST00000421047 12/15 1 benign(0.128) NA CGC G,A 1.647e-05 3:185652158 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 missense_variant 3.816624 0.96321 0.97215 0.67177 0.9928595 0 0.9421241 TRUE 8.15202e-06 ENSE00002330984_020 ENSE00002330984 020 3 185369840 185370009 - 42 75 53 G A 185369975 3990 35 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGAAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652186 185652187 185652187 upstr_intron -19 -0.3396226 GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTTCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 119 2090 0.9829682 0.9999818 0.991475 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.04361288 0.1212331 0.9905596 0.909052 NA 0.08242299 NA FALSE NA 0.001 0.249 rs190238457 intron_variant MODIFIER IGF2BP2 HGNC 28867 ENST00000421047 11/14 rs190238457 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 GGA G,A 6.59e-05 3:185652187 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 intron_variant 0.028123 0.18448 0.10518 0.069865 0.7090912 0.102346 0.9421241 TRUE 6.23022e-05 ENSE00002330984_021 ENSE00002330984 021 3 185369840 185370009 - 42 75 53 C T 185369980 3991 30 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAATGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 185652191 185652192 185652192 upstr_intron -24 -0.4339623 GGGGCTGGGGAATGCAGCCGAGCATCAGCATTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 121 302 0.9947839 0.9996211 0.9972025 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.05542867 0.1208724 0.9905596 0.909052 NA 0.08815052 NA FALSE NA 0 -1.285 . intron_variant MODIFIER IGF2BP2 HGNC 28867 ENST00000421047 11/14 1 NA ACG C,T 1.648e-05 3:185652192 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 intron_variant -0.016156 0.1544 0.03519 0.069865 0.8101402 0.0709782 0.9421241 TRUE 1.26021e-05 ENSE00002330984_022 ENSE00002330984 022 3 185369840 185370009 - 42 75 53 C T 185369990 3992 20 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTTGGCTGCATTCCCCAGCCCC 185652051 185652221 185652201 185652202 185652202 upstr_intron -34 -0.6226415 GGGGCTGGGGAATGCAGCCAAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 735 376 1 0.9994923 0.9997462 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06064472 0.1207436 0.9905596 0.909052 NA 0.09069418 NA FALSE NA 0 -3.007 . intron_variant MODIFIER IGF2BP2 HGNC 28867 ENST00000421047 11/14 rs544643426 1 T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 TCG C,T 0.0003048 3:185652202 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 intron_variant -0.504897 0.06197 0.0121 0.069865 0.665708 0.0497883 0.9421241 TRUE 0.00038751 ENSE00002330984_023 ENSE00002330984 023 3 185369840 185370009 - 42 75 53 G A 185369991 3993 19 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCAGCTGCATTCCCCAGCCCC 185652051 185652221 185652202 185652203 185652203 upstr_intron -35 -0.6415094 GGGGCTGGGGAATGCAGCTGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 738 540 0.9971336 0.9970571 0.9970954 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.05777832 0.1183085 0.9905596 0.909052 NA 0.08804339 NA FALSE NA 0.001 -0.482 . intron_variant MODIFIER IGF2BP2 HGNC 28867 ENST00000421047 11/14 1 NA CGG G,A 8.238e-06 3:185652203 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 intron_variant 0.049041 0.16467 0.05221 0.069865 0.6601738 0.0497883 0.9421241 TRUE NA ENSE00002330984_024 ENSE00002330984 024 3 185369840 185370009 - 42 75 53 G C 185369992 3994 18 GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAACCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATCTGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGCCTGCATTCCCCAGCCCC 185652051 185652221 185652203 185652204 185652204 upstr_intron -36 -0.6603774 GGGGCTGGGGAATGCAGGCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC mutant NA NA NA NA NA 130 114 1 1 1 0.9864814 0.9946377 0.9393553 0.8787487 NA NA 0.06064472 0.1212513 0.9905596 0.909052 NA 0.09094802 NA FALSE NA 0.005 -0.219 . intron_variant MODIFIER IGF2BP2 HGNC 28867 ENST00000421047 11/14 rs376598476 1 NA C:0.0002 C:0 GGC G,C 1.648e-05 3:185652204 IGF2BP2 HGNC Symbol protein_coding 181317 ENSG00000073792 ENSE00003557901 intron_variant -0.057491 0.26057 0.13041 0.069865 0.7490587 0.0497883 0.9421241 TRUE 1.29375e-05 ENSE00002330984_BRK ENSE00002330984 BRK 3 185369840 185370009 - 42 75 53 A,G; T,T NA NA NA GTGCCCAGAGCCTGCAGGGCTGAGGTGTCCCTTGGCACTAGGCTTGAACTGGGCTTCCGGTGGCCCGGTGATGATGACCATCCTTTCGCTGACGTCTGGGCCTTCCGCAGGGGCAATAAGTGGTTCACAGGAGAGGAAAACGCTGATGCTCGGCTGCATTCCCCAGCCCC 185652051 185652221 NA NA NA NA NA NA GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACTTATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGCCTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC GGGGCTGGGGAATGCAGCCGAGCATCAGCGTTTTCCTCTCCTGTGAACCACAGATTGCCCCTGCGGAAGGCCCAGACGTCAGCGAAAGGATGGTCATCATCACCGGGCCACCGGAAGCCCAGTTCAAGGTTAGTGCCAAGGGACACCTCAGCCCTGCAGGCTCTGGGCAC control 52 21 0 0 0 NA NA NA NA NA 0.9864814 0.9946377 0.9393553 0.8787487 -0.9864814 -0.9946377 NA NA 0.9905596 0.909052 -0.9905596 NA NA NA TRUE NA NA NA NA NA IGF2BP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IGF2BP2 NA NA NA ENSG00000073792 ENSE00003557901 NA NA NA NA NA NA NA 0.9421241 TRUE NA ENSE00002331010_000 ENSE00002331010 000 17 10366835 10367004 - 33 93 44 NA NA NA NA NA TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 NA NA NA NA NA NA TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC natural 70 75 0.9961109 0.9998616 0.9979862 11637 6584 0.9757677 0.8844755 0.9301216 0.9961109 0.9998616 0.9757677 0.8844755 0 0 0 0 0.9979862 0.9301216 0 0 0 FALSE FALSE NA NA NA NA NA CTC-297N7.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYHAS NA NA NA ENSG00000272975 ENSE00002331010 NA NA NA NA NA NA NA NA NA NA ENSE00002331010_BRK ENSE00002331010 BRK 17 10366835 10367004 - 33 93 44 A,G; T,T NA NA NA TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTATTGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTCCAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 NA NA NA NA NA NA TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTATTGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTCCAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC control 28 39 0 0 0 381 825 0.1163674 0 0.05818368 0.9961109 0.9998616 0.9757677 0.8844755 -0.9961109 -0.9998616 -0.8594004 -0.8844755 0.9979862 0.9301216 -0.9979862 -0.8719379 0.1260483 TRUE TRUE NA NA NA NA NA CTC-297N7.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYHAS NA NA NA ENSG00000272975 ENSE00002331010 NA NA NA NA NA NA NA NA NA NA ENSE00002331511_000 ENSE00002331511 000 17 38793705 38793874 - 39 81 50 NA NA NA NA NA GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 NA NA NA NA NA NA CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC natural 111 130 0.995483 0.9940998 0.9947914 3122 1446 0.9535844 0.9900255 0.971805 0.995483 0.9940998 0.9535844 0.9900255 0 0 0 0 0.9947914 0.971805 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003501840 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00002331511_004 ENSE00002331511 004 17 38793705 38793874 - 39 81 50 C A 38793774 1753 101 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGAGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637521 40637522 40637522 exon -31 0.6296296 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCTCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant 196 119 0.7829504 0.797003 0.7899767 NA NA NA NA NA 0.995483 0.9940998 0.9535844 0.9900255 -0.2125327 -0.1970969 NA NA 0.9947914 0.971805 -0.2048148 NA NA NA FALSE 0.958 0.074 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003501840 synonymous_variant 3.052475 0.97118 0.87571 0.706548 0.8151548 0 NA NA 4.06246e-06 ENSE00002331511_009 ENSE00002331511 009 17 38793705 38793874 - 39 81 50 C A 38793828 1758 47 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTAAGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637575 40637576 40637576 upstr_intron -4 -0.06 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCTTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant NA NA NA NA NA 622 178 0.9964142 0.9951533 0.9957837 0.995483 0.9940998 0.9535844 0.9900255 NA NA 0.04282972 0.00512779 0.9947914 0.971805 NA 0.02397876 NA FALSE NA 0.045 -0.659 NA NA NA SMARCE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMARCE1 NA NA NA ENSG00000073584 ENSE00003501840 splice_region_variant 1.994693 0.78677 0.26491 0.099367 0.7629794 0.437697 0.9981881 TRUE 4.06379e-06 ENSE00002331511_BRK ENSE00002331511 BRK 17 38793705 38793874 - 39 81 50 A,G; T,T NA NA NA GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTGGCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCAAACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 NA NA NA NA NA NA CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTTTGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGCCAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC control 115 76 0.01140737 0.1726983 0.09205281 823 86 0.00478272 0.007540129 0.006161424 0.995483 0.9940998 0.9535844 0.9900255 -0.9840757 -0.8214016 -0.9488017 -0.9824854 0.9947914 0.971805 -0.9027386 -0.9656435 0.06290493 TRUE TRUE NA NA NA NA NA SMARCE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMARCE1 NA NA NA ENSG00000073584 ENSE00003501840 NA NA NA NA NA NA NA 0.9981881 TRUE NA ENSE00002331924_000 ENSE00002331924 000 3 73440139 73440308 - 30 99 41 NA NA NA NA NA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 NA NA NA NA NA NA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA natural 37 36 1 0.9758091 0.9879045 2778 2331 0.9922283 0.9450318 0.9686301 1 0.9758091 0.9922283 0.9450318 0 0 0 0 0.9879045 0.9686301 0 0 0 FALSE FALSE NA NA NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZRN3 NA NA NA ENSG00000121440 ENSE00003592889 NA NA NA NA NA NA NA 0.9083761 TRUE NA ENSE00002331924_001 ENSE00002331924 001 3 73440139 73440308 - 30 99 41 T G 73440162 2116 147 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAACGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391010 73391011 73391011 downstr_intron 7 1.241379 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAACGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 934 897 0.9999559 0.9994892 0.9997226 1 0.9758091 0.9922283 0.9450318 NA NA 0.007727586 0.05445742 0.9879045 0.9686301 NA 0.0310925 NA FALSE NA 0 -0.738 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PDZRN3 HGNC 17704 ENST00000466348 4/6 1 NA CTT T,G 8.236e-06 3:73391011 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 splice_region_variant 1.172925 0.21735 0.04717 0.053691 0.7888388 0.133521 0.9083761 TRUE NA ENSE00002331924_002 ENSE00002331924 002 3 73440139 73440308 - 30 99 41 C T 73440184 2117 125 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGAATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391032 73391033 73391033 exon -16 0.8484848 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGAATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 530 1650 0.8021898 0.9997886 0.9009892 1 0.9758091 0.9922283 0.9450318 NA NA -0.1900386 0.05475682 0.9879045 0.9686301 NA -0.06764088 NA FALSE NA 0.025 -0.321 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 1 NA TCC C,T 1.647e-05 3:73391033 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 synonymous_variant 1.194959 0.16819 0.09448 0.706298 0.6868716 0 0.9083761 TRUE 1.21898e-05 ENSE00002331924_003 ENSE00002331924 003 3 73440139 73440308 - 30 99 41 A G 73440188 2118 121 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACACTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391036 73391037 73391037 exon -20 0.8080808 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACACTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 386 838 1 0.9916256 0.9958128 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.04659377 0.9879045 0.9686301 NA 0.02718271 NA FALSE NA 0.995 4.038 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 1 NA AAT A,G 8.236e-06 3:73391037 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 1.616275 0.97903 0.81725 0.706298 0.5850968 0 0.9083761 TRUE 4.06233e-06 ENSE00002331924_004 ENSE00002331924 004 3 73440139 73440308 - 30 99 41 T C 73440189 2119 120 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACGTTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391037 73391038 73391038 exon -21 0.7979798 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACGTTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 82 119 1 1 1 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.05496817 0.9879045 0.9686301 NA 0.03136991 NA FALSE NA 1 2.566 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 1 NA ATG T,C 8.236e-06 3:73391038 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant -0.27075 0.97489 0.84292 0.706298 0.9194412 0 0.9083761 TRUE 4.0624e-06 ENSE00002331924_005 ENSE00002331924 005 3 73440139 73440308 - 30 99 41 C T 73440192 2120 117 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACAACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391040 73391041 73391041 exon -24 0.7676768 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACAACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 382 84 1 1 1 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.05496817 0.9879045 0.9686301 NA 0.03136991 NA FALSE NA 1 7.641 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 rs540586195&COSM1048431 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 8.236e-06 3:73391041 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 6.960856 0.99428 0.98213 0.706298 0.9992592 0 0.9083761 TRUE 4.0622e-06 ENSE00002331924_006 ENSE00002331924 006 3 73440139 73440308 - 30 99 41 G A 73440193 2121 116 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGATGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391041 73391042 73391042 exon -25 0.7575758 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGATGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 824 532 0.9983401 0.9908818 0.9946109 1 0.9758091 0.9922283 0.9450318 NA NA 0.006111766 0.04584993 0.9879045 0.9686301 NA 0.02598085 NA FALSE NA 0 -1.522 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 1 NA CGT G,A 1.647e-05 3:73391042 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 synonymous_variant 0.562315 0.52241 0.03063 0.706298 0.6843824 0 0.9083761 TRUE 4.46864e-05 ENSE00002331924_008 ENSE00002331924 008 3 73440139 73440308 - 30 99 41 T C 73440196 2123 113 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAGGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391044 73391045 73391045 exon -28 0.7272727 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAGGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 624 610 0.9705093 0.9966884 0.9835988 1 0.9758091 0.9922283 0.9450318 NA NA -0.02171906 0.05165657 0.9879045 0.9686301 NA 0.01496875 NA FALSE NA 0.531 -0.08 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 1 NA CTT T,C 8.236e-06 3:73391045 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 synonymous_variant -0.252075 0.96254 0.44334 0.706298 0.5739401 0 0.9083761 TRUE 8.12387e-06 ENSE00002331924_009 ENSE00002331924 009 3 73440139 73440308 - 30 99 41 A G 73440199 2124 110 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGACGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391047 73391048 73391048 exon -31 0.6969697 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGACGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 204 540 1 1 1 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.05496817 0.9879045 0.9686301 NA 0.03136991 NA FALSE NA 0.008 -0.915 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 rs555498846 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAT A,G 3.295e-05 3:73391048 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 synonymous_variant 0.211583 0.943 0.0696 0.706298 0.4864693 0 0.9083761 TRUE 1.62467e-05 ENSE00002331924_010 ENSE00002331924 010 3 73440139 73440308 - 30 99 41 T C 73440200 2125 109 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGGTGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391048 73391049 73391049 exon -32 0.6868687 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGGTGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 122 970 1 1 1 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.05496817 0.9879045 0.9686301 NA 0.03136991 NA FALSE NA 1 7.858 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 1 NA ATC T,C 8.236e-06 3:73391049 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 5.875066 0.99226 0.98046 0.706298 0.9984827 0 0.9083761 TRUE 4.06154e-06 ENSE00002331924_011 ENSE00002331924 011 3 73440139 73440308 - 30 99 41 C T 73440201 2126 108 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACAATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391049 73391050 73391050 exon -33 0.6767677 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACAATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 330 261 1 1 1 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.05496817 0.9879045 0.9686301 NA 0.03136991 NA FALSE NA 1 7.641 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 rs200273452&COSM1538770&COSM3993314&COSM3993313&COSM3993315 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0003 TCG C,T 0.0002636 3:73391050 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 6.638013 0.99428 0.98213 0.706298 0.9992288 0 0.9083761 TRUE 0.000288402 ENSE00002331924_013 ENSE00002331924 013 3 73440139 73440308 - 30 99 41 C T 73440205 2128 104 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACAGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391053 73391054 73391054 exon -37 0.6363636 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACAGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 766 44 0.9971873 1 0.9985936 1 0.9758091 0.9922283 0.9450318 NA NA 0.004958951 0.05496817 0.9879045 0.9686301 NA 0.02996356 NA FALSE NA 0 -8.565 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 rs542152332 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 8.236e-06 3:73391054 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 synonymous_variant 1.645346 0.09537 0.00842 0.706298 0.8438228 0 0.9083761 TRUE 2.03115e-05 ENSE00002331924_014 ENSE00002331924 014 3 73440139 73440308 - 30 99 41 G C 73440206 2129 103 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGAGGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391054 73391055 73391055 exon -38 0.6262626 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGAGGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 519 302 0.9909822 1 0.9954911 1 0.9758091 0.9922283 0.9450318 NA NA -0.001246123 0.05496817 0.9879045 0.9686301 NA 0.02686102 NA FALSE NA 1 9.638 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:73391055 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 6.255771 0.99466 0.99193 0.706298 0.9954687 0 0.9083761 TRUE 8.1246e-05 ENSE00002331924_015 ENSE00002331924 015 3 73440139 73440308 - 30 99 41 G T 73440206 2130 103 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGAAGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391054 73391055 73391055 exon -38 0.6262626 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGAAGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 288 165 1 0.9596115 0.9798058 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.01457967 0.9879045 0.9686301 NA 0.01117566 NA FALSE NA 1 9.638 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003592889 missense_variant 6.716735 0.99458 0.99127 0.706298 0.9950775 0 0.008565806 FALSE 8.1246e-06 ENSE00002331924_016 ENSE00002331924 016 3 73440139 73440308 - 30 99 41 G A 73440206 2131 103 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGATGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391054 73391055 73391055 exon -38 0.6262626 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGATGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 101 1743 0.9799638 0.9999093 0.9899366 1 0.9758091 0.9922283 0.9450318 NA NA -0.0122645 0.05487742 0.9879045 0.9686301 NA 0.02130646 NA FALSE NA 1 9.638 NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZRN3 NA NA NA ENSG00000121440 ENSE00003592889 missense_variant 5.121988 0.99443 0.9899 0.706298 0.999286 0 0.9083761 TRUE 4.0623e-06 ENSE00002331924_018 ENSE00002331924 018 3 73440139 73440308 - 30 99 41 C G 73440215 2133 94 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTCCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391063 73391064 73391064 exon -47 0.5353535 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTCCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 60 474 1 0.9912243 0.9956121 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.04619247 0.9879045 0.9686301 NA 0.02698206 NA FALSE NA 1 7.641 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 rs563460813 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GCA C,G 8.236e-06 3:73391064 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 5.701329 0.99458 0.98674 0.706298 0.9948899 0 0.9083761 TRUE 4.06151e-06 ENSE00002331924_019 ENSE00002331924 019 3 73440139 73440308 - 30 99 41 C T 73440232 2134 77 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAACTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391080 73391081 73391081 exon 36 0.3636364 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAACTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 337 455 0.84369 0.9998325 0.9217613 1 0.9758091 0.9922283 0.9450318 NA NA -0.1485383 0.05480071 0.9879045 0.9686301 NA -0.04686881 NA FALSE NA 1 0.793 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 1 NA GCT C,T 1.647e-05 3:73391081 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 synonymous_variant 1.625891 0.97323 0.79831 0.706298 0.6598112 0 0.9083761 TRUE 8.12367e-06 ENSE00002331924_020 ENSE00002331924 020 3 73440139 73440308 - 30 99 41 C T 73440237 2135 72 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGAACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391085 73391086 73391086 exon 31 0.3131313 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGAACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 243 322 1 1 1 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.05496817 0.9879045 0.9686301 NA 0.03136991 NA FALSE NA 1 7.641 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 1 NA TCC C,T 8.236e-06 3:73391086 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 5.266904 0.99428 0.98213 0.706298 0.9991621 0 0.9083761 TRUE 4.06207e-06 ENSE00002331924_021 ENSE00002331924 021 3 73440139 73440308 - 30 99 41 G C 73440244 2136 65 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAAGAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391092 73391093 73391093 exon 24 0.2424242 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAAGAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 372 13 0.9991116 1 0.9995558 1 0.9758091 0.9922283 0.9450318 NA NA 0.006883259 0.05496817 0.9879045 0.9686301 NA 0.03092572 NA FALSE NA 1 4.06 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:73391093 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 3.79344 0.97696 0.95498 0.706298 0.9980736 0 0.9083761 TRUE 4.06167e-06 ENSE00002331924_022 ENSE00002331924 022 3 73440139 73440308 - 30 99 41 G A 73440244 2137 65 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAATAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391092 73391093 73391093 exon 24 0.2424242 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAATAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 100 365 1 0.9985268 0.9992634 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.05349497 0.9879045 0.9686301 NA 0.03063331 NA FALSE NA 1 4.06 NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZRN3 NA NA NA ENSG00000121440 ENSE00003592889 synonymous_variant 0.560922 0.97448 0.9203 0.706298 0.7487552 0 0.9083761 TRUE NA ENSE00002331924_024 ENSE00002331924 024 3 73440139 73440308 - 30 99 41 T C 73440254 2139 55 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTGCAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391102 73391103 73391103 exon 14 0.1414141 TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTGCAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 399 284 1 0.9979643 0.9989821 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.05293245 0.9879045 0.9686301 NA 0.03035205 NA FALSE NA 1 3.343 rs111707010 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/7 rs111707010&COSM1581444 1 C:0.0052 C:0.0197 C:0 NA C:0 C:0 C:0 C:0.0166 C:0 GTA T,C 0.001524 3:73391103 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 missense_variant 1.794179 0.98284 0.91583 0.706298 0.9374728 0 0.9083761 TRUE 0.00114152 ENSE00002331924_025 ENSE00002331924 025 3 73440139 73440308 - 30 99 41 A T 73440278 2140 31 TGCCTGCTGGAGTCTCACTGGGAATGCCTTACTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391126 73391127 73391127 upstr_intron -11 -0.2439024 TGCCTGCTGGAGTCTCACTGGGAATGCCTTACTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 1002 74 0.9989334 1 0.9994667 1 0.9758091 0.9922283 0.9450318 NA NA 0.00670508 0.05496817 0.9879045 0.9686301 NA 0.03083663 NA FALSE NA 0.992 2.202 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 3/6 1 NA GAA A,T 8.236e-06 3:73391127 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 intron_variant 0.795847 0.80868 0.95253 0.053691 0.8039538 0.315314 0.9083761 TRUE NA ENSE00002331924_026 ENSE00002331924 026 3 73440139 73440308 - 30 99 41 C T 73440283 2141 26 TGCCTGCTGGAGTCTCACTGGGAATACCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391131 73391132 73391132 upstr_intron -16 -0.3658537 TGCCTGCTGGAGTCTCACTGGGAATACCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 52 870 0.9970398 1 0.9985199 1 0.9758091 0.9922283 0.9450318 NA NA 0.004811471 0.05496817 0.9879045 0.9686301 NA 0.02988982 NA FALSE NA 0 -0.06 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 3/6 1 NA GCA C,T 8.236e-06 3:73391132 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 intron_variant 0.102839 0.2221 0.0942 0.053691 0.5509909 0.217847 0.9083761 TRUE 8.21342e-06 ENSE00002331924_027 ENSE00002331924 027 3 73440139 73440308 - 30 99 41 T C 73440285 2142 24 TGCCTGCTGGAGTCTCACTGGGAGTGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 73391133 73391134 73391134 upstr_intron -18 -0.4146341 TGCCTGCTGGAGTCTCACTGGGAGTGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA mutant NA NA NA NA NA 969 1051 1 0.9985014 0.9992507 1 0.9758091 0.9922283 0.9450318 NA NA 0.007771656 0.0534696 0.9879045 0.9686301 NA 0.03062063 NA FALSE NA 0 -1.027 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 3/6 rs372927410 1 NA C:0 C:0.0001 ATT T,C 8.236e-06 3:73391134 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003592889 intron_variant -0.412229 0.17947 0.06679 0.053691 0.5146155 0.217847 0.9083761 TRUE 8.22747e-06 ENSE00002331924_BRK ENSE00002331924 BRK 3 73440139 73440308 - 30 99 41 A,G; T,T NA NA NA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTTTGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGCCACAAAGGCTGATTTTGTTTTTCTAACTA 73390987 73391157 NA NA NA NA NA NA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTTTGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGCCACAAAGGCTGATTTTGTTTTTCTAACTA TGCCTGCTGGAGTCTCACTGGGAATGCCTTTCTTTGTCTAGGAAGTGGACCTCTACAGAATGAACAGCCAGGACAAGCTGGGCCTCACTGTGTGCTACCGGACGGACGATGAAGACGACATTGGGATTTATATCAGTGAGGTACAAAGGCTGATTTTGTTTTTCTAACTA control 61 128 0.08342201 0 0.041711 77 39 0 0 0 1 0.9758091 0.9922283 0.9450318 -0.916578 -0.9758091 -0.9922283 -0.9450318 0.9879045 0.9686301 -0.9461935 -0.9686301 0.02243654 TRUE TRUE NA NA NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZRN3 NA NA NA ENSG00000121440 ENSE00003592889 NA NA NA NA NA NA NA 0.9083761 TRUE NA ENSE00002332164_000 ENSE00002332164 000 8 62489295 62489464 - 36 87 47 NA NA NA NA NA TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 NA NA NA NA NA NA TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG natural NA NA NA NA NA 3319 3744 0.9336116 0.8367755 0.8851936 NA NA 0.9336116 0.8367755 NA NA 0 0 NA 0.8851936 NA 0 NA FALSE NA NA NA NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASPH NA NA NA ENSG00000198363 ENSE00003811304 NA NA NA NA NA NA NA 1.017662e-08 FALSE NA ENSE00002332164_001 ENSE00002332164 001 8 62489295 62489464 - 36 87 47 T C 62489305 1326 160 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGGCACTTTTTTG 61576735 61576905 61576745 61576746 61576746 downstr_intron 26 1.742857 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGGCACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 107 190 1 1 1 NA NA 0.9336116 0.8367755 NA NA 0.06638837 0.1632245 NA 0.8851936 NA 0.1148064 NA FALSE NA 0 0.247 . downstream_gene_variant MODIFIER ASPH HGNC 757 ENST00000522349 1 NA GTC T,C 8.236e-06 8:61576746 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 non_coding_transcript_exon_variant 0.118549 0.19369 0.10268 0.078448 0.2706724 0.0490229 1.017662e-08 FALSE NA ENSE00002332164_004 ENSE00002332164 004 8 62489295 62489464 - 36 87 47 C T 62489334 1329 131 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCACAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576774 61576775 61576775 exon -4 0.9655172 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCACAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 48 333 1 0.9957597 0.9978798 NA NA 0.9336116 0.8367755 NA NA 0.06638837 0.1589842 NA 0.8851936 NA 0.1126863 NA FALSE NA 0.087 -0.768 rs16927574 synonymous_variant LOW ASPH HGNC 757 ENST00000522349 5/5 rs16927574 1 T:0.1306 T:0.1551 T:0.0994 NA T:0.2371 T:0.0795 T:0.0624 T:0.1332 T:0.0648 GCG C,T 0.089 8:61576775 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 synonymous_variant 1.122823 0.21632 0.00784 0.706298 0.7422469 0 1.017662e-08 FALSE 0.0876116 ENSE00002332164_005 ENSE00002332164 005 8 62489295 62489464 - 36 87 47 G A 62489335 1330 130 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGTGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576775 61576776 61576776 exon -5 0.954023 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGTGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 116 14 0.9996447 1 0.9998223 NA NA 0.9336116 0.8367755 NA NA 0.06603306 0.1632245 NA 0.8851936 NA 0.1146288 NA FALSE NA 1 6.703 . missense_variant MODERATE ASPH HGNC 757 ENST00000522349 5/5 1 deleterious_low_confidence(0) unknown(0) NA CGC G,A 2.471e-05 8:61576776 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 6.05522 0.99479 0.99092 0.706298 0.9951042 0 1.017662e-08 FALSE 2.03515e-05 ENSE00002332164_008 ENSE00002332164 008 8 62489295 62489464 - 36 87 47 C G 62489353 1333 112 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACCAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576793 61576794 61576794 exon -23 0.7471264 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACCAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 541 127 0.9950275 0.9824225 0.988725 NA NA 0.9336116 0.8367755 NA NA 0.06141588 0.145647 NA 0.8851936 NA 0.1035315 NA FALSE NA 1 5.006 NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:61576794 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 4.440035 0.9876 0.96875 0.706298 0.987664 0 1.017662e-08 FALSE 8.12737e-06 ENSE00002332164_009 ENSE00002332164 009 8 62489295 62489464 - 36 87 47 C A 62489361 1334 104 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCATAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576801 61576802 61576802 exon -31 0.6551724 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCATAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 106 611 0.8234472 0.9883366 0.9058919 NA NA 0.9336116 0.8367755 NA NA -0.1101644 0.1515611 NA 0.8851936 NA 0.02069834 NA FALSE NA 0.948 0.275 . missense_variant MODERATE ASPH HGNC 757 ENST00000522349 5/5 COSM1100944 1 tolerated_low_confidence(0.08) unknown(0) NA TCT C,A 8.236e-06 8:61576802 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 2.329731 0.96461 0.76414 0.706298 0.9862699 0 1.017662e-08 FALSE NA ENSE00002332164_011 ENSE00002332164 011 8 62489295 62489464 - 36 87 47 G A 62489366 1336 99 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACTCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576806 61576807 61576807 exon -36 0.5977011 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACTCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 33 194 0.9220636 0.9975464 0.959805 NA NA 0.9336116 0.8367755 NA NA -0.01154799 0.1607709 NA 0.8851936 NA 0.07461148 NA FALSE NA 1 8.397 . missense_variant MODERATE ASPH HGNC 757 ENST00000522349 5/5 1 deleterious_low_confidence(0) unknown(0) NA GGG G,A 8.236e-06 8:61576807 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 6.06156 0.99238 0.98513 0.706298 0.9950978 0 1.017662e-08 FALSE 4.06332e-06 ENSE00002332164_012 ENSE00002332164 012 8 62489295 62489464 - 36 87 47 G A 62489367 1337 98 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATATCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576807 61576808 61576808 exon -37 0.5862069 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATATCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 73 199 1 1 1 NA NA 0.9336116 0.8367755 NA NA 0.06638837 0.1632245 NA 0.8851936 NA 0.1148064 NA FALSE NA 1 1.494 . synonymous_variant LOW ASPH HGNC 757 ENST00000522349 5/5 1 NA GGT G,A 8.236e-06 8:61576808 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 synonymous_variant 0.464262 0.96549 0.71902 0.706298 0.8827665 0 1.017662e-08 FALSE 8.12625e-06 ENSE00002332164_013 ENSE00002332164 013 8 62489295 62489464 - 36 87 47 T G 62489368 1338 97 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATCCCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576808 61576809 61576809 exon -38 0.5747126 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATCCCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 516 1475 0.9853477 0.998778 0.9920629 NA NA 0.9336116 0.8367755 NA NA 0.05173607 0.1620026 NA 0.8851936 NA 0.1068693 NA FALSE NA 1 3.915 . missense_variant MODERATE ASPH HGNC 757 ENST00000522349 5/5 1 deleterious_low_confidence(0.03) unknown(0) NA GTA T,G 8.236e-06 8:61576809 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 4.555197 0.97803 0.93693 0.706298 0.9384278 0 1.017662e-08 FALSE 4.06342e-06 ENSE00002332164_014 ENSE00002332164 014 8 62489295 62489464 - 36 87 47 C T 62489374 1339 91 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACACAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576814 61576815 61576815 exon -44 0.5057471 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACACAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 713 34 0.9893886 0.9698749 0.9796318 NA NA 0.9336116 0.8367755 NA NA 0.05577699 0.1330994 NA 0.8851936 NA 0.09443821 NA FALSE NA 0 -0.255 . missense_variant MODERATE ASPH HGNC 757 ENST00000522349 5/5 1 tolerated_low_confidence(0.19) unknown(0) NA GCG C,T 8.236e-06 8:61576815 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 2.747843 0.95905 0.07139 0.706298 0.9666792 0 1.017662e-08 FALSE 2.03201e-05 ENSE00002332164_015 ENSE00002332164 015 8 62489295 62489464 - 36 87 47 G T 62489375 1340 90 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTAAGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576815 61576816 61576816 exon 43 0.4942529 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTAAGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 88 304 0.8 0.9903353 0.8951677 NA NA 0.9336116 0.8367755 NA NA -0.1336116 0.1535598 NA 0.8851936 NA 0.009974106 NA FALSE NA 0.601 3.75 NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:61576816 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 3.088864 0.97869 0.51074 0.706298 0.9916437 0 1.017662e-08 FALSE 0.000146312 ENSE00002332164_019 ENSE00002332164 019 8 62489295 62489464 - 36 87 47 A G 62489410 1344 55 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAACTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576850 61576851 61576851 exon 8 0.09195402 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAACTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 670 1143 0.9997712 0.9924036 0.9960874 NA NA 0.9336116 0.8367755 NA NA 0.06615958 0.1556281 NA 0.8851936 NA 0.1108938 NA FALSE NA 0.953 3.355 . missense_variant MODERATE ASPH HGNC 757 ENST00000522349 5/5 1 tolerated(0.15) unknown(0) NA AAT A,G 8.236e-06 8:61576851 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 1.962132 0.97553 0.92526 0.706298 0.9876947 0 1.017662e-08 FALSE 8.1674e-06 ENSE00002332164_020 ENSE00002332164 020 8 62489295 62489464 - 36 87 47 T C 62489413 1345 52 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAGAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576853 61576854 61576854 exon 5 0.05747126 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAGAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 56 329 1 0.999519 0.9997595 NA NA 0.9336116 0.8367755 NA NA 0.06638837 0.1627435 NA 0.8851936 NA 0.1145659 NA FALSE NA 1 5.179 . missense_variant MODERATE ASPH HGNC 757 ENST00000522349 5/5 1 tolerated(0.11) unknown(0) NA TTT T,C 1.647e-05 8:61576854 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 2.889719 0.98985 0.96202 0.706298 0.9948387 0 1.017662e-08 FALSE 8.16433e-06 ENSE00002332164_021 ENSE00002332164 021 8 62489295 62489464 - 36 87 47 T C 62489414 1346 51 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAGAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576854 61576855 61576855 exon 4 0.04597701 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAGAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 800 914 0.9998084 0.9931779 0.9964931 NA NA 0.9336116 0.8367755 NA NA 0.06619677 0.1564024 NA 0.8851936 NA 0.1112996 NA FALSE NA 1 6.851 . missense_variant MODERATE ASPH HGNC 757 ENST00000522349 5/5 rs548801422 1 tolerated(0.08) unknown(0) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTT T,C 1.647e-05 8:61576855 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 missense_variant 3.284797 0.98985 0.97463 0.706298 0.9919232 0 1.017662e-08 FALSE 1.63244e-05 ENSE00002332164_022 ENSE00002332164 022 8 62489295 62489464 - 36 87 47 C T 62489418 1347 47 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAAGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 61576858 61576859 61576859 upstr_intron -1 0 TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAAGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG mutant NA NA NA NA NA 508 476 0 0.007195577 0.003597788 NA NA 0.9336116 0.8367755 NA NA -0.9336116 -0.8295799 NA 0.8851936 NA -0.8815958 NA TRUE NA 1 6.622 . splice_acceptor_variant HIGH ASPH HGNC 757 ENST00000522349 4/4 1 NA HC CCT C,T 8.236e-06 8:61576859 ASPH HGNC Symbol protein_coding 214084 ENSG00000198363 ENSE00003811304 splice_acceptor_variant 5.309349 0.99218 0.97663 0.162113 0.9950392 0.977118 1.017662e-08 FALSE 4.09567e-06 ENSE00002332164_BRK ENSE00002332164 BRK 8 62489295 62489464 - 36 87 47 A,G; T,T NA NA NA TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACTTGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGCCATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG 61576735 61576905 NA NA NA NA NA NA TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACTTGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGCCATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG TATTCATTTTAATTTATTTTATTTATGTAATTTTGTCTTTCTAACAGGGAAAAATTGAGGAAGCAGTGAATGCATTTAAAGAACTAGTACGCAAATACCCTCAGAGTCCACGAGCAAGATATGGGAAGGCGCAGGTATTCTGAGACCCTTCTCCTTAGGACACTTTTTTG control 14 36 0 0 0 396 4298 0 0.06326159 0.03163079 NA NA 0.9336116 0.8367755 NA NA -0.9336116 -0.7735139 NA 0.8851936 NA -0.8535628 NA TRUE NA NA NA NA NA NA ASPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ASPH NA NA NA ENSG00000198363 ENSE00003811304 NA NA NA NA NA NA NA 1.017662e-08 FALSE NA ENSE00002332249_000 ENSE00002332249 000 5 110710489 110710658 + 59 63 48 NA NA NA NA NA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA 111374790 111374960 NA NA NA NA NA NA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA natural NA NA NA NA NA 1280 1476 0.9982528 0.8008268 0.8995398 NA NA 0.9982528 0.8008268 NA NA 0 0 NA 0.8995398 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMK4 NA NA NA ENSG00000152495 ENSE00003491780 NA NA NA NA NA NA NA 0.01582967 FALSE NA ENSE00002332249_007 ENSE00002332249 007 5 110710489 110710658 + 59 63 48 G A 110710509 934 21 CTCTGCTACAATGAAGGGGGAAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA 111374790 111374960 111374810 111374811 111374811 upstr_intron -39 -0.6440678 CTCTGCTACAATGAAGGGGGAAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA mutant NA NA NA NA NA 49 567 1 0.9946462 0.9973231 NA NA 0.9982528 0.8008268 NA NA 0.001747242 0.1938194 NA 0.8995398 NA 0.09778334 NA FALSE NA 0 0.111 NA NA NA CAMK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:111374811 CAMK4 HGNC Symbol protein_coding 271233 ENSG00000152495 ENSE00003491780 intron_variant 1.570384 0.34632 0.01523 0.295142 0.8749733 0.19771 0.01582967 FALSE 1.66364e-05 ENSE00002332249_009 ENSE00002332249 009 5 110710489 110710658 + 59 63 48 T C 110710522 936 34 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGCTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA 111374790 111374960 111374823 111374824 111374824 upstr_intron -26 -0.4237288 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGCTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA mutant NA NA NA NA NA 463 122 0.9936507 1 0.9968254 NA NA 0.9982528 0.8008268 NA NA -0.004602043 0.1991732 NA 0.8995398 NA 0.09728557 NA FALSE NA 0.213 0.479 . intron_variant&non_coding_transcript_variant MODIFIER CAMK4 HGNC 1464 ENST00000505763 1/6 rs369612628 1 NA C:0.0002 C:0.0002 GTT T,C 7.417e-05 5:111374824 CAMK4 HGNC Symbol protein_coding 271233 ENSG00000152495 ENSE00003491780 intron_variant 2.657756 0.79657 0.1539 0.295142 0.8330067 0.272803 0.01582967 FALSE 8.20944e-05 ENSE00002332249_010 ENSE00002332249 010 5 110710489 110710658 + 59 63 48 A C 110710525 937 37 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTCTCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA 111374790 111374960 111374826 111374827 111374827 upstr_intron -23 -0.3728814 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTCTCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA mutant NA NA NA NA NA 256 38 0.9990315 0.95 0.9745157 NA NA 0.9982528 0.8008268 NA NA 0.0007786959 0.1491732 NA 0.8995398 NA 0.07497594 NA FALSE NA 0.003 -0.338 . intron_variant&non_coding_transcript_variant MODIFIER CAMK4 HGNC 1464 ENST00000505763 1/6 1 NA TAT A,C 8.24e-06 5:111374827 CAMK4 HGNC Symbol protein_coding 271233 ENSG00000152495 ENSE00003491780 intron_variant 2.203545 0.14293 0.00518 0.295142 0.7789424 0.196062 0.01582967 FALSE 4.10004e-06 ENSE00002332249_014 ENSE00002332249 014 5 110710489 110710658 + 59 63 48 G A 110710563 941 75 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCATAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA 111374790 111374960 111374864 111374865 111374865 exon 16 0.2539683 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCATAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA mutant NA NA NA NA NA 79 67 0.8 1 0.9 NA NA 0.9982528 0.8008268 NA NA -0.1982528 0.1991732 NA 0.8995398 NA 0.0004602112 NA FALSE NA 1 6.131 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CAMK4 HGNC 1464 ENST00000505763 2/7 rs371603420 1 NA A:0.0002 A:0 CGT G,A 1.648e-05 5:111374865 CAMK4 HGNC Symbol protein_coding 271233 ENSG00000152495 ENSE00003491780 missense_variant 2.859595 0.97918 0.9265 0.706548 0.9774291 0 0.01582967 FALSE 1.22323e-05 ENSE00002332249_016 ENSE00002332249 016 5 110710489 110710658 + 59 63 48 G A 110710574 943 86 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAAATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA 111374790 111374960 111374875 111374876 111374876 exon 27 0.4285714 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAAATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA mutant NA NA NA NA NA 69 151 1 1 1 NA NA 0.9982528 0.8008268 NA NA 0.001747242 0.1991732 NA 0.8995398 NA 0.1004602 NA FALSE NA 1 0.761 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CAMK4 HGNC 1464 ENST00000505763 2/7 1 NA AGA G,A 8.238e-06 5:111374876 CAMK4 HGNC Symbol protein_coding 271233 ENSG00000152495 ENSE00003491780 synonymous_variant 1.088453 0.9609 0.48659 0.706548 0.4793577 0 0.01582967 FALSE 8.15268e-06 ENSE00002332249_018 ENSE00002332249 018 5 110710489 110710658 + 59 63 48 G A 110710591 945 103 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCACCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA 111374790 111374960 111374892 111374893 111374893 exon -20 0.6984127 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCACCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA mutant NA NA NA NA NA 29 727 1 0.9974471 0.9987235 NA NA 0.9982528 0.8008268 NA NA 0.001747242 0.1966202 NA 0.8995398 NA 0.09918374 NA FALSE NA 1 7.937 rs149873223 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CAMK4 HGNC 1464 ENST00000505763 2/7 rs149873223 1 NA A:0 A:0.0001 CGC G,A 8.238e-06 5:111374893 CAMK4 HGNC Symbol protein_coding 271233 ENSG00000152495 ENSE00003491780 missense_variant 7.639824 0.99077 0.97131 0.706548 0.9993188 0 0.01582967 FALSE 8.15741e-06 ENSE00002332249_019 ENSE00002332249 019 5 110710489 110710658 + 59 63 48 C T 110710595 946 107 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTTTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA 111374790 111374960 111374896 111374897 111374897 exon -16 0.7619048 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTTTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA mutant NA NA NA NA NA 16 554 1 0.9925957 0.9962978 NA NA 0.9982528 0.8008268 NA NA 0.001747242 0.1917688 NA 0.8995398 NA 0.09675804 NA FALSE NA 0.988 0.228 rs144973840 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CAMK4 HGNC 1464 ENST00000505763 2/7 rs144973840 1 NA T:0 T:0.0001 TCT C,T 8.238e-06 5:111374897 CAMK4 HGNC Symbol protein_coding 271233 ENSG00000152495 ENSE00003491780 synonymous_variant 1.67955 0.96819 0.49855 0.706548 0.7636629 0 0.01582967 FALSE 4.07767e-06 ENSE00002332249_024 ENSE00002332249 024 5 110710489 110710658 + 59 63 48 T C 110710643 951 155 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGACTGCCAGAGCTAGAGA 111374790 111374960 111374944 111374945 111374945 downstr_intron 33 1.702128 CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGACTGCCAGAGCTAGAGA CTCTGCTACAATGAAGGGGGGAGTTTCTTTCAGTTTATCTCTTTTATTTTGCCTTTTAGGTGGACAAAAAAATCGTAAGAACTGAGATAGGAGTTCTTCTTCGCCTCTCACATCCAAACATTGTAAGTGGTTTTTAACCTACTATTTCAAATGATTGCCAGAGCTAGAGA mutant NA NA NA NA NA 31 88 1 0.976132 0.988066 NA NA 0.9982528 0.8008268 NA NA 0.001747242 0.1753052 NA 0.8995398 NA 0.08852623 NA FALSE NA 0.03 2.103 . intron_variant&non_coding_transcript_variant MODIFIER CAMK4 HGNC 1464 ENST00000505763 2/6 rs371867545 1 C:0.0060 C:0 C:0 NA C:0.0198 C:0 C:0.0102 C:0.0002 C:0 ATT T,C 0.00103 5:111374945 CAMK4 HGNC Symbol protein_coding 271233 ENSG00000152495 ENSE00003491780 intron_variant 0.026674 0.21136 0.22601 0.062308 0.6353682 0.0851235 0.01582967 FALSE 0.00101643 ENSE00002332661_000 ENSE00002332661 000 17 40066427 40066596 - 48 63 59 NA NA NA NA NA TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 NA NA NA NA NA NA TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT natural NA NA NA NA NA 907 2253 0.9790393 0.9959654 0.9875023 NA NA 0.9790393 0.9959654 NA NA 0 0 NA 0.9875023 NA 0 NA FALSE NA NA NA NA NA NA ACLY NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACLY NA NA NA ENSG00000131473 ENSE00003671814 NA NA NA NA NA NA NA 0.996415 TRUE NA ENSE00002332661_006 ENSE00002332661 006 17 40066427 40066596 - 48 63 59 G A 40066462 1767 135 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGTGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910208 41910209 41910209 downstr_intron 13 1.276596 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGTGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant NA NA NA NA NA 48 1247 1 0.9574186 0.9787093 NA NA 0.9790393 0.9959654 NA NA 0.02096072 -0.03854676 NA 0.9875023 NA -0.00879302 NA FALSE NA 0 -0.351 . intron_variant MODIFIER ACLY HGNC 115 ENST00000590151 4/28 1 NA CGC G,A 1.647e-05 17:41910209 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 intron_variant 0.004946 0.21249 0.01777 0.256867 0.5375357 0.157891 0.996415 TRUE 1.64186e-05 ENSE00002332661_007 ENSE00002332661 007 17 40066427 40066596 - 48 63 59 C T 40066466 1768 131 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTAAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910212 41910213 41910213 downstr_intron 9 1.191489 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTAAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant NA NA NA NA NA 41 586 0.9283233 0.9872292 0.9577762 NA NA 0.9790393 0.9959654 NA NA -0.050716 -0.008736241 NA 0.9875023 NA -0.02972612 NA FALSE NA 0.011 0.092 . intron_variant MODIFIER ACLY HGNC 115 ENST00000590151 4/28 1 NA TCA C,T 8.237e-06 17:41910213 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 intron_variant 0.408991 0.29118 0.05914 0.256867 0.4829166 0.172584 0.996415 TRUE 4.09386e-06 ENSE00002332661_009 ENSE00002332661 009 17 40066427 40066596 - 48 63 59 G A 40066484 1770 113 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCTCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910230 41910231 41910231 exon -10 0.8571429 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCTCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant 31 61 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9790393 0.9959654 NA NA NA NA NA 0.9875023 NA NA NA NA NA 0 -2.096 . synonymous_variant LOW ACLY HGNC 115 ENST00000590151 4/29 1 NA GGG G,A 8.237e-06 17:41910231 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 synonymous_variant 0.957881 0.75833 0.20485 0.67177 0.5668208 0 0.996415 TRUE NA ENSE00002332661_010 ENSE00002332661 010 17 40066427 40066596 - 48 63 59 G A 40066485 1771 112 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCTCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910231 41910232 41910232 exon -11 0.8412698 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCTCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant 11 21 0.85 0.85 0.85 471 259 0.9533141 0.9603662 0.9568402 NA NA 0.9790393 0.9959654 NA NA -0.02572519 -0.03559919 NA 0.9875023 NA -0.03066219 NA FALSE NA 1 6.503 . missense_variant MODERATE ACLY HGNC 115 ENST00000590151 4/29 1 tolerated(0.08) benign(0.089) NA GGG G,A 8.237e-06 17:41910232 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 missense_variant 3.709342 0.96578 0.95865 0.67177 0.995719 0 0.996415 TRUE NA ENSE00002332661_012 ENSE00002332661 012 17 40066427 40066596 - 48 63 59 G C 40066499 1773 98 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATGGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910245 41910246 41910246 exon -25 0.6190476 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATGGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant NA NA NA NA NA 207 40 1 1 1 NA NA 0.9790393 0.9959654 NA NA 0.02096072 0.004034601 NA 0.9875023 NA 0.01249766 NA FALSE NA 0 -3.501 NA NA NA ACLY NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:41910246 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 missense_variant 3.702507 0.59851 0.24178 0.67177 0.9902507 0 0.996415 TRUE 4.07455e-05 ENSE00002332661_015 ENSE00002332661 015 17 40066427 40066596 - 48 63 59 G A 40066504 1776 93 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTTTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910250 41910251 41910251 exon -30 0.5396825 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTTTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant 77 126 0.8428485 0.85 0.8464243 NA NA NA NA NA NA NA 0.9790393 0.9959654 NA NA NA NA NA 0.9875023 NA NA NA NA NA 1 4.722 . synonymous_variant LOW ACLY HGNC 115 ENST00000590151 4/29 1 NA AGA G,A 8.237e-06 17:41910251 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 synonymous_variant 1.032032 0.94017 0.91817 0.67177 0.6183615 0 0.996415 TRUE 4.07302e-06 ENSE00002332661_017 ENSE00002332661 017 17 40066427 40066596 - 48 63 59 G A 40066524 1778 73 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCATAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910270 41910271 41910271 exon 14 0.2222222 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCATAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant 15 28 0.6885423 0.49239 0.5904661 NA NA NA NA NA NA NA 0.9790393 0.9959654 NA NA NA NA NA 0.9875023 NA NA NA NA NA 0.587 0.355 . missense_variant MODERATE ACLY HGNC 115 ENST00000590151 4/29 1 tolerated(0.05) benign(0.217) NA TGT G,A 8.237e-06 17:41910271 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 missense_variant 1.397146 0.85282 0.56109 0.67177 0.9651066 0 0.996415 TRUE 8.15109e-06 ENSE00002332661_018 ENSE00002332661 018 17 40066427 40066596 - 48 63 59 G C 40066532 1779 65 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGGAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910278 41910279 41910279 exon 6 0.0952381 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGGAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant NA NA NA NA NA 312 61 0.95 0.9961667 0.9730833 NA NA 0.9790393 0.9959654 NA NA -0.02903928 0.0002012589 NA 0.9875023 NA -0.01441901 NA FALSE NA 1 1.158 . synonymous_variant LOW ACLY HGNC 115 ENST00000590151 4/29 1 NA TGC G,C 8.237e-06 17:41910279 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 synonymous_variant 0.702934 0.92256 0.82472 0.67177 0.7471282 0 0.996415 TRUE 4.08353e-06 ENSE00002332661_019 ENSE00002332661 019 17 40066427 40066596 - 48 63 59 T C 40066549 1780 48 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAGTTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910295 41910296 41910296 upstr_intron -12 -0.1864407 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAGTTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant NA NA NA NA NA 101 2129 0.07370606 0.01554107 0.04462357 NA NA 0.9790393 0.9959654 NA NA -0.9053332 -0.9804243 NA 0.9875023 NA -0.9428788 NA TRUE NA 0.013 -0.172 . intron_variant MODIFIER ACLY HGNC 115 ENST00000590151 3/28 1 NA ATT T,C 8.237e-06 17:41910296 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 intron_variant 0.089448 0.26928 0.09155 0.115753 0.4087195 0.090033 0.996415 TRUE 4.10674e-06 ENSE00002332661_020 ENSE00002332661 020 17 40066427 40066596 - 48 63 59 G C 40066555 1781 42 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTGCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT 41910173 41910343 41910301 41910302 41910302 upstr_intron -18 -0.2881356 TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTGCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT TGCCCTAGGGGCAAGACGTGCTGTCCCTCTGAGTTTCATCTCCCTCAATTTTTCTGTAGGTTGGCAAGGCCACAGGCTTCCTCAAGAACTTTCTGATCGAGCCCTTCGTCCCCCACAGTCAGGTATGTGTGAGGCGGCTCCAGGCTGGGTCTTCTCCCTCCTGGAACCTT mutant NA NA NA NA NA 189 930 1 0.9995486 0.9997743 NA NA 0.9790393 0.9959654 NA NA 0.02096072 0.003583193 NA 0.9875023 NA 0.01227195 NA FALSE NA 0.002 1.111 . intron_variant MODIFIER ACLY HGNC 115 ENST00000590151 3/28 1 NA GGA G,C 8.237e-06 17:41910302 ACLY HGNC Symbol protein_coding 63634 ENSG00000131473 ENSE00003671814 intron_variant -0.271071 0.27716 0.37899 0.115753 0.3327192 0.090033 0.996415 TRUE 4.11896e-06 ENSE00002332716_000 ENSE00002332716 000 2 216996989 216997158 + 59 63 48 NA NA NA NA NA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 NA NA NA NA NA NA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA natural 48 44 0.9162255 0.9837459 0.9499857 3421 2303 0.9655204 0.9694815 0.9675009 0.9162255 0.9837459 0.9655204 0.9694815 0 0 0 0 0.9499857 0.9675009 0 0 0 FALSE FALSE NA NA NA NA NA XRCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XRCC5 NA NA NA ENSG00000079246 ENSE00003684949 NA NA NA NA NA NA NA 0.9999918 TRUE NA ENSE00002332716_001 ENSE00002332716 001 2 216996989 216997158 + 59 63 48 C T 216997001 4482 13 GTCATGGTTATATATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132277 216132278 216132278 upstr_intron -47 -0.779661 GTCATGGTTATATATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 738 23 1 1 1 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03447959 0.03051852 0.9499857 0.9675009 NA 0.03249905 NA FALSE NA 0 -1.165 . intron_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 2/5 1 NA ACA C,T 8.237e-06 2:216132278 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 intron_variant 1.850733 0.11711 0.00323 0.295142 0.6201545 0.046323 0.9999918 TRUE 4.0833e-06 ENSE00002332716_002 ENSE00002332716 002 2 216996989 216997158 + 59 63 48 G T 216997004 4483 16 GTCATGGTTATACATTTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132280 216132281 216132281 upstr_intron -44 -0.7288136 GTCATGGTTATACATTTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 412 818 1 1 1 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03447959 0.03051852 0.9499857 0.9675009 NA 0.03249905 NA FALSE NA 0 -0.49 . intron_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 2/5 1 NA TGT G,T 8.237e-06 2:216132281 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 intron_variant 1.764718 0.18269 0.06363 0.295142 0.8083891 0.0386214 0.9999918 TRUE 8.15834e-06 ENSE00002332716_003 ENSE00002332716 003 2 216996989 216997158 + 59 63 48 T G 216997009 4484 21 GTCATGGTTATACATGTTACGTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132285 216132286 216132286 upstr_intron -39 -0.6440678 GTCATGGTTATACATGTTACGTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 1186 374 0.9938706 1 0.9969353 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.02835014 0.03051852 0.9499857 0.9675009 NA 0.02943433 NA FALSE NA 0.941 1.723 . intron_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 2/5 rs376293366 1 NA G:0 G:0.0001 CTT T,G 1.647e-05 2:216132286 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 intron_variant 1.663217 0.24622 0.90121 0.295142 0.8211831 0.0386214 0.9999918 TRUE 1.22299e-05 ENSE00002332716_004 ENSE00002332716 004 2 216996989 216997158 + 59 63 48 A G 216997022 4485 34 GTCATGGTTATACATGTTACTTATTTTGGATCAGAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132298 216132299 216132299 upstr_intron -26 -0.4237288 GTCATGGTTATACATGTTACTTATTTTGGATCAGAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 140 81 1 1 1 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03447959 0.03051852 0.9499857 0.9675009 NA 0.03249905 NA FALSE NA 0.157 0.848 . intron_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 2/5 rs369801819 1 NA AAA A,G 8.236e-06 2:216132299 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 intron_variant 0.77716 0.21857 0.08676 0.295142 0.7859182 0.0605817 0.9999918 TRUE 2.44345e-05 ENSE00002332716_005 ENSE00002332716 005 2 216996989 216997158 + 59 63 48 C G 216997031 4486 43 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTGTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132307 216132308 216132308 upstr_intron -17 -0.2711864 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTGTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 366 269 1 0.9876524 0.9938262 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03447959 0.01817097 0.9499857 0.9675009 NA 0.02632528 NA FALSE NA 0 -1.07 NA NA NA XRCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:216132308 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 intron_variant 0.604556 0.18381 0.09143 0.295142 0.5289442 0.0605817 0.9999918 TRUE 0.000439732 ENSE00002332716_010 ENSE00002332716 010 2 216996989 216997158 + 59 63 48 T C 216997060 4491 72 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGACTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132336 216132337 216132337 exon 13 0.2063492 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGACTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 435 893 0.9911907 1 0.9955953 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.02567028 0.03051852 0.9499857 0.9675009 NA 0.0280944 NA FALSE NA 1 3.335 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 3/6 1 NA ATT T,C 2.471e-05 2:216132337 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 missense_variant 2.324945 0.9806 0.89832 0.706548 0.9875979 0 0.9999918 TRUE 1.62804e-05 ENSE00002332716_011 ENSE00002332716 011 2 216996989 216997158 + 59 63 48 T A 216997064 4492 76 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTACATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132340 216132341 216132341 exon 17 0.2698413 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTACATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 262 24 0.9958801 1 0.9979401 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03035972 0.03051852 0.9499857 0.9675009 NA 0.03043912 NA FALSE NA 1 3.191 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 3/6 rs571782420 1 A:0.0020 A:0 A:0 NA A:0 A:0 A:0.0102 TTC T,A 0.000593 2:216132341 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 missense_variant 2.57769 0.98014 0.94917 0.706548 0.9211408 0 0.9999918 TRUE 0.000472201 ENSE00002332716_012 ENSE00002332716 012 2 216996989 216997158 + 59 63 48 T C 216997067 4493 79 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCACGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132343 216132344 216132344 exon 20 0.3174603 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCACGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 849 14 0.9962067 1 0.9981034 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03068633 0.03051852 0.9499857 0.9675009 NA 0.03060242 NA FALSE NA 1 5.893 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 3/6 1 NA ATG T,C 8.236e-06 2:216132344 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 missense_variant 5.587314 0.98912 0.99029 0.706548 0.9932259 0 0.9999918 TRUE 4.07067e-06 ENSE00002332716_013 ENSE00002332716 013 2 216996989 216997158 + 59 63 48 T C 216997080 4494 92 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTCCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132356 216132357 216132357 exon -31 0.5238095 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTCCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 25 260 1 0.9993912 0.9996956 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03447959 0.02990976 0.9499857 0.9675009 NA 0.03219467 NA FALSE NA 1 1.257 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 3/6 1 NA TTC T,C 8.236e-06 2:216132357 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 synonymous_variant 0.467481 0.96944 0.89103 0.706548 0.7584663 0 0.9999918 TRUE 4.07276e-06 ENSE00002332716_014 ENSE00002332716 014 2 216996989 216997158 + 59 63 48 A T 216997095 4495 107 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCTGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132371 216132372 216132372 exon -16 0.7619048 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCTGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 812 390 0.9995938 0.9971507 0.9983723 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03407343 0.0276692 0.9499857 0.9675009 NA 0.03087132 NA FALSE NA 0.999 0.777 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 3/6 1 NA CAG A,T 8.236e-06 2:216132372 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 synonymous_variant 0.647434 0.96372 0.84475 0.706548 0.6363274 0 0.9999918 TRUE 4.07544e-06 ENSE00002332716_016 ENSE00002332716 016 2 216996989 216997158 + 59 63 48 T C 216997136 4497 148 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGCAGTGCTACAGAATTGAATTGTA 216132265 216132435 216132412 216132413 216132413 downstr_intron 26 1.553191 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGCAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 1345 415 0.9870747 0.9996187 0.9933467 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.02155429 0.03013724 0.9499857 0.9675009 NA 0.02584577 NA FALSE NA 0 -0.125 . intron_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 3/5 1 NA GTA T,C 8.236e-06 2:216132413 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 intron_variant 0.556022 0.18584 0.0531 0.099367 0.6996279 0.0708573 0.9999918 TRUE 2.04953e-05 ENSE00002332716_017 ENSE00002332716 017 2 216996989 216997158 + 59 63 48 A G 216997143 4498 155 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTGCAGAATTGAATTGTA 216132265 216132435 216132419 216132420 216132420 downstr_intron 33 1.702128 GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTGCAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA mutant NA NA NA NA NA 331 457 1 0.9996538 0.9998269 0.9162255 0.9837459 0.9655204 0.9694815 NA NA 0.03447959 0.0301723 0.9499857 0.9675009 NA 0.03232594 NA FALSE NA 0 -0.184 . intron_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000471649 3/5 rs370676573 1 NA G:0 G:0.0001 TAC A,G 3.295e-05 2:216132420 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003684949 intron_variant -0.338654 0.16522 0.05524 0.099367 0.6113899 0.0708573 0.9999918 TRUE 2.05292e-05 ENSE00002332716_BRK ENSE00002332716 BRK 2 216996989 216997158 + 59 63 48 A,G; T,T NA NA NA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTTTGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGCCGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA 216132265 216132435 NA NA NA NA NA NA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTTTGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGCCGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA GTCATGGTTATACATGTTACTTATTTTGGATCAAAAGCAATTCTTTTCCTCTCTTGTAGGTTCAGAGAAGATTCTTCATGGGAAATCAAGTTCTAAAGGTCTTTGCAGCAAGAGATGATGAGGTGAGTTGGCAGCAGGTCTTTGAGGTAGTGCTACAGAATTGAATTGTA control NA NA NA NA NA 729 583 0.000411591 0.04264442 0.021528 0.9162255 0.9837459 0.9655204 0.9694815 NA NA -0.9651088 -0.9268371 0.9499857 0.9675009 NA -0.9459729 NA TRUE NA NA NA NA NA NA XRCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XRCC5 NA NA NA ENSG00000079246 ENSE00003684949 NA NA NA NA NA NA NA 0.9999918 TRUE NA ENSE00002332792_000 ENSE00002332792 000 3 167422577 167422746 - 53 54 63 NA NA NA NA NA TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG 167704788 167704958 NA NA NA NA NA NA TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG natural NA NA NA NA NA 1849 880 0.8833816 0.9472629 0.9153223 NA NA 0.8833816 0.9472629 NA NA 0 0 NA 0.9153223 NA 0 NA FALSE NA NA NA NA NA NA PDCD10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDCD10 NA NA NA ENSG00000114209 ENSE00003670459 NA NA NA NA NA NA NA 0.9857349 TRUE NA ENSE00002332792_002 ENSE00002332792 002 3 167422577 167422746 - 53 54 63 T C 167422592 3511 155 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTGTGTTCTTTGTAAATG 167704788 167704958 167704803 167704804 167704804 downstr_intron 38 1.730769 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTGTGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG mutant NA NA NA NA NA 41 50 1 1 1 NA NA 0.8833816 0.9472629 NA NA 0.1166184 0.05273706 NA 0.9153223 NA 0.08467773 NA FALSE NA 0 -0.066 . intron_variant MODIFIER PDCD10 HGNC 8761 ENST00000492396 2/6 rs370814114 1 NA C:0.0002 C:0 ATA T,C 8.237e-06 3:167704804 PDCD10 HGNC Symbol protein_coding 51641 ENSG00000114209 ENSE00003670459 non_coding_transcript_exon_variant -0.102256 0.17309 0.06436 0.322412 0.3626419 0.046323 0.9857349 TRUE NA ENSE00002332792_003 ENSE00002332792 003 3 167422577 167422746 - 53 54 63 C T 167422594 3512 153 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTATATGTTCTTTGTAAATG 167704788 167704958 167704805 167704806 167704806 downstr_intron 36 1.692308 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTATATGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG mutant NA NA NA NA NA 16 253 1 1 1 NA NA 0.8833816 0.9472629 NA NA 0.1166184 0.05273706 NA 0.9153223 NA 0.08467773 NA FALSE NA 0 -0.484 rs149447899 intron_variant MODIFIER PDCD10 HGNC 8761 ENST00000492396 2/6 rs149447899 1 T:0.0014 T:0.0053 T:0 NA T:0 T:0 T:0 T:0.0052 T:0 ACA C,T 0.0005107 3:167704806 PDCD10 HGNC Symbol protein_coding 51641 ENSG00000114209 ENSE00003670459 non_coding_transcript_exon_variant 0.155691 0.21449 0.01495 0.322412 0.3776945 0.046323 0.9857349 TRUE 0.000351534 ENSE00002332792_008 ENSE00002332792 008 3 167422577 167422746 - 53 54 63 T C 167422635 3517 112 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCGTCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG 167704788 167704958 167704846 167704847 167704847 exon -6 0.9074074 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCGTCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG mutant NA NA NA NA NA 181 197 1 1 1 NA NA 0.8833816 0.9472629 NA NA 0.1166184 0.05273706 NA 0.9153223 NA 0.08467773 NA FALSE NA 1 7.455 . 5_prime_UTR_variant MODIFIER PDCD10 HGNC 8761 ENST00000492396 2/7 1 NA ATG T,C 8.237e-06 3:167704847 PDCD10 HGNC Symbol protein_coding 51641 ENSG00000114209 ENSE00003670459 missense_variant 1.424553 0.99278 0.98722 0.732398 0.964238 0 0.9857349 TRUE 4.06931e-06 ENSE00002332792_011 ENSE00002332792 011 3 167422577 167422746 - 53 54 63 G A 167422650 3520 97 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACATTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG 167704788 167704958 167704861 167704862 167704862 exon -21 0.6296296 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACATTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG mutant NA NA NA NA NA 33 120 1 1 1 NA NA 0.8833816 0.9472629 NA NA 0.1166184 0.05273706 NA 0.9153223 NA 0.08467773 NA FALSE NA 1 3.666 . 5_prime_UTR_variant MODIFIER PDCD10 HGNC 8761 ENST00000492396 2/7 1 NA AGT G,A 8.237e-06 3:167704862 PDCD10 HGNC Symbol protein_coding 51641 ENSG00000114209 ENSE00003670459 synonymous_variant 1.446804 0.98759 0.9574 0.732398 0.7895184 0 0.9857349 TRUE 4.0711e-06 ENSE00002332792_012 ENSE00002332792 012 3 167422577 167422746 - 53 54 63 T G 167422671 3521 76 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTACATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG 167704788 167704958 167704882 167704883 167704883 exon 13 0.2407407 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTACATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG mutant NA NA NA NA NA 1158 341 0.9999645 0.9989892 0.9994768 NA NA 0.8833816 0.9472629 NA NA 0.1165829 0.05172626 NA 0.9153223 NA 0.08415455 NA FALSE NA 1 7.455 . 5_prime_UTR_variant MODIFIER PDCD10 HGNC 8761 ENST00000492396 2/7 1 NA TTT T,G 8.237e-06 3:167704883 PDCD10 HGNC Symbol protein_coding 51641 ENSG00000114209 ENSE00003670459 missense_variant 5.956332 0.99302 0.98931 0.732398 0.9958819 0 0.9857349 TRUE 4.07787e-06 ENSE00002332792_015 ENSE00002332792 015 3 167422577 167422746 - 53 54 63 A T 167422695 3524 52 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAAATTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG 167704788 167704958 167704906 167704907 167704907 upstr_intron -12 -0.1746032 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAAATTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG mutant NA NA NA NA NA 33 998 1 0.9985765 0.9992882 NA NA 0.8833816 0.9472629 NA NA 0.1166184 0.05131353 NA 0.9153223 NA 0.08396596 NA FALSE NA 1 4.826 . intron_variant MODIFIER PDCD10 HGNC 8761 ENST00000492396 1/6 1 NA AAT A,T 4.122e-05 3:167704907 PDCD10 HGNC Symbol protein_coding 51641 ENSG00000114209 ENSE00003670459 intron_variant 1.757577 0.95329 0.953 0.088506 0.8435539 0.330355 0.9857349 TRUE 2.13296e-05 ENSE00002332792_016 ENSE00002332792 016 3 167422577 167422746 - 53 54 63 T A 167422709 3525 38 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCTTAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG 167704788 167704958 167704920 167704921 167704921 upstr_intron -26 -0.3968254 TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCTTAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG mutant NA NA NA NA NA 269 25 0.9975262 1 0.9987631 NA NA 0.8833816 0.9472629 NA NA 0.1141446 0.05273706 NA 0.9153223 NA 0.08344082 NA FALSE NA 0.004 -0.633 . intron_variant MODIFIER PDCD10 HGNC 8761 ENST00000492396 1/6 1 NA ATG T,A 8.259e-06 3:167704921 PDCD10 HGNC Symbol protein_coding 51641 ENSG00000114209 ENSE00003670459 intron_variant -0.170309 0.18331 0.05118 0.088506 0.6348208 0.0448725 0.9857349 TRUE 4.54545e-06 ENSE00002332792_019 ENSE00002332792 019 3 167422577 167422746 - 53 54 63 A G 167422729 3528 18 TCTCAGAAATGTGCTTTCTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG 167704788 167704958 167704940 167704941 167704941 upstr_intron -46 -0.7142857 TCTCAGAAATGTGCTTTCTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG TCTCAGAAATGTGCTTTTTCCAAGAAAGTTGATATTCATAATAATTTAAAATTTTTATTGCAGCTAGAACGAGTAAATCTGTCTGCAGCCCAGACACTGAGAGCCGCTTTCATCAAGGTGAGGTGCAAATAATTTACTATGATTATTAAAGTGTATGTTCTTTGTAAATG mutant NA NA NA NA NA 737 108 1 0.9807191 0.9903596 NA NA 0.8833816 0.9472629 NA NA 0.1166184 0.03345619 NA 0.9153223 NA 0.0750373 NA FALSE NA 0.061 0.532 . intron_variant MODIFIER PDCD10 HGNC 8761 ENST00000492396 1/6 1 NA AAA A,G 8.309e-06 3:167704941 PDCD10 HGNC Symbol protein_coding 51641 ENSG00000114209 ENSE00003670459 intron_variant 0.183573 0.19447 0.10489 0.088506 0.5689271 0.0443366 0.9857349 TRUE 5.3888e-06 ENSE00002332853_000 ENSE00002332853 000 3 130340606 130340775 + 59 63 48 NA NA NA NA NA GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 NA NA NA NA NA NA GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG natural 15 27 0.993228 0.9918371 0.9925325 894 1181 0.9938331 0.8183336 0.9060833 0.993228 0.9918371 0.9938331 0.8183336 0 0 0 0 0.9925325 0.9060833 0 0 0 FALSE FALSE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003484410 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002332853_001 ENSE00002332853 001 3 130340606 130340775 + 59 63 48 A G 130340617 2860 12 GTTTGAAGAAAGGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621772 130621773 130621773 upstr_intron -48 -0.7966102 GTTTGAAGAAAGGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 138 489 1 1 1 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1816664 0.9925325 0.9060833 NA 0.09391666 NA FALSE NA 0.014 0.752 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 15/27 1 NA AAG A,G 8.278e-06 3:130621773 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 intron_variant -0.381411 0.18142 0.02576 0.061011 0.2953697 0.100212 3.591687e-45 FALSE NA ENSE00002332853_003 ENSE00002332853 003 3 130340606 130340775 + 59 63 48 G C 130340633 2862 28 GTTTGAAGAAAAGTTGCTTTATGTTTTCCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621788 130621789 130621789 upstr_intron -32 -0.5254237 GTTTGAAGAAAAGTTGCTTTATGTTTTCCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 145 345 1 0.9159513 0.9579757 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.09761777 0.9925325 0.9060833 NA 0.05189234 NA FALSE NA 0.988 0.863 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 15/27 1 NA TGC G,C 1.656e-05 3:130621789 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 intron_variant 0.118119 0.80387 0.62085 0.061011 0.4394409 0.163873 3.591687e-45 FALSE 2.05339e-05 ENSE00002332853_004 ENSE00002332853 004 3 130340606 130340775 + 59 63 48 C T 130340634 2863 29 GTTTGAAGAAAAGTTGCTTTATGTTTTGTTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621789 130621790 130621790 upstr_intron -31 -0.5084746 GTTTGAAGAAAAGTTGCTTTATGTTTTGTTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 272 164 1 0.9123283 0.9561641 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.09399468 0.9925325 0.9060833 NA 0.0500808 NA FALSE NA 0.989 1.263 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 15/27 1 NA GCT C,T 8.279e-06 3:130621790 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 intron_variant 0.334593 0.69382 0.46498 0.061011 0.5314299 0.224423 3.591687e-45 FALSE 4.10654e-06 ENSE00002332853_005 ENSE00002332853 005 3 130340606 130340775 + 59 63 48 C T 130340647 2864 42 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAATCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621802 130621803 130621803 upstr_intron -18 -0.2881356 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAATCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 106 878 1 0.998909 0.9994545 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1805754 0.9925325 0.9060833 NA 0.09337115 NA FALSE NA 0 -0.535 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 15/27 rs377043612 1 NA ACC C,T 8.279e-06 3:130621803 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 intron_variant -0.5023 0.17418 0.011 0.061011 0.252 0.163873 3.591687e-45 FALSE 4.07637e-06 ENSE00002332853_006 ENSE00002332853 006 3 130340606 130340775 + 59 63 48 C T 130340650 2865 45 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCTTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621805 130621806 130621806 upstr_intron -15 -0.2372881 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCTTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 55 206 1 1 1 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1816664 0.9925325 0.9060833 NA 0.09391666 NA FALSE NA 0.188 -1.876 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 15/27 1 NA CCT C,T 8.279e-06 3:130621806 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 intron_variant -0.273134 0.16526 0.01105 0.061011 0.5056006 0.163873 3.591687e-45 FALSE 4.07352e-06 ENSE00002332853_008 ENSE00002332853 008 3 130340606 130340775 + 59 63 48 G T 130340667 2867 62 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGTCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621822 130621823 130621823 exon 3 0.04761905 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGTCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 448 622 0 0.02586986 0.01293493 0.993228 0.9918371 0.9938331 0.8183336 NA NA -0.9938331 -0.7924637 0.9925325 0.9060833 NA -0.8931484 NA TRUE NA 0.988 -0.096 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 16/28 1 NA GGC G,T 8.279e-06 3:130621823 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 splice_region_variant 0.687738 0.94919 0.43001 0.553676 0.6144148 0 3.591687e-45 FALSE 4.0665e-06 ENSE00002332853_014 ENSE00002332853 014 3 130340606 130340775 + 59 63 48 C T 130340679 2873 74 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCTGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621834 130621835 130621835 exon 15 0.2380952 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCTGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 264 79 1 1 1 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1816664 0.9925325 0.9060833 NA 0.09391666 NA FALSE NA 0.538 -0.492 NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:130621835 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 synonymous_variant 1.749929 0.196 0.02755 0.553676 0.5289997 0 3.591687e-45 FALSE 2.84553e-05 ENSE00002332853_016 ENSE00002332853 016 3 130340606 130340775 + 59 63 48 G A 130340680 2875 75 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCAGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621835 130621836 130621836 exon 16 0.2539683 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCAGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 1046 161 0.9980266 1 0.9990133 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.004193476 0.1816664 0.9925325 0.9060833 NA 0.09292995 NA FALSE NA 0.564 1.634 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/28 rs369809525 1 NA A:0 A:0.0002 CGG G,A 3.312e-05 3:130621836 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 missense_variant 4.333915 0.3012 0.20776 0.553676 0.9546281 0 3.591687e-45 FALSE 2.84525e-05 ENSE00002332853_017 ENSE00002332853 017 3 130340606 130340775 + 59 63 48 G T 130340693 2876 88 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGTGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621848 130621849 130621849 exon 29 0.4603175 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGTGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 825 37 1 1 1 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1816664 0.9925325 0.9060833 NA 0.09391666 NA FALSE NA 1 4.744 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/28 1 NA GGG G,T 8.279e-06 3:130621849 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 missense_variant 5.595955 0.9826 0.92562 0.553676 0.9975503 0 3.591687e-45 FALSE 8.12909e-06 ENSE00002332853_018 ENSE00002332853 018 3 130340606 130340775 + 59 63 48 C G 130340698 2877 93 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATGAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621853 130621854 130621854 exon -30 0.5396825 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATGAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 90 473 1 1 1 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1816664 0.9925325 0.9060833 NA 0.09391666 NA FALSE NA 0.772 3.75 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/28 1 NA TCA C,G 8.279e-06 3:130621854 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 missense_variant 1.382533 0.95389 0.80167 0.553676 0.2055561 0 3.591687e-45 FALSE 4.06458e-06 ENSE00002332853_019 ENSE00002332853 019 3 130340606 130340775 + 59 63 48 C T 130340704 2878 99 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCTGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621859 130621860 130621860 exon -24 0.6349206 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCTGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 464 42 0.9981224 1 0.9990612 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.004289334 0.1816664 0.9925325 0.9060833 NA 0.09297788 NA FALSE NA 0.735 2.396 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/28 rs200578758 1 T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 T:0 T:0.0001 CCG C,T 0.0001076 3:130621860 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 missense_variant 7.14676 0.91253 0.55751 0.487112 0.9985849 0 3.591687e-45 FALSE 8.53631e-05 ENSE00002332853_020 ENSE00002332853 020 3 130340606 130340775 + 59 63 48 G A 130340705 2879 100 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCATTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621860 130621861 130621861 exon -23 0.6507937 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCATTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 176 180 1 0.9991204 0.9995602 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1807868 0.9925325 0.9060833 NA 0.09347684 NA FALSE NA 0.027 -0.693 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/28 rs370794032&COSM122307 1 NA A:0 A:0.0001 CGT G,A 5.795e-05 3:130621861 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 missense_variant -0.125962 0.11635 0.00711 0.487112 0.8096557 0 3.591687e-45 FALSE 6.09781e-05 ENSE00002332853_021 ENSE00002332853 021 3 130340606 130340775 + 59 63 48 T C 130340707 2880 102 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTCTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621862 130621863 130621863 exon -21 0.6825397 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTCTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 52 1367 1 0.999301 0.9996505 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1809674 0.9925325 0.9060833 NA 0.09356714 NA FALSE NA 0.115 0.113 rs148526586 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/28 rs148526586 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTT T,C 8.278e-06 3:130621863 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 synonymous_variant -0.523253 0.18727 0.02329 0.487112 0.5678972 0 3.591687e-45 FALSE 4.06504e-06 ENSE00002332853_022 ENSE00002332853 022 3 130340606 130340775 + 59 63 48 A T 130340712 2881 107 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGTAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621867 130621868 130621868 exon -16 0.7619048 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGTAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 52 235 0.95 0.9356618 0.9428309 0.993228 0.9918371 0.9938331 0.8183336 NA NA -0.04383309 0.1173283 0.9925325 0.9060833 NA 0.03674759 NA FALSE NA 1 0.605 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/28 COSM1418999&COSM1418998 1 NA GAA A,T 4.967e-05 3:130621868 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 synonymous_variant -0.195598 0.93294 0.54739 0.487112 0.7490433 0 3.591687e-45 FALSE 3.25227e-05 ENSE00002332853_023 ENSE00002332853 023 3 130340606 130340775 + 59 63 48 A G 130340718 2882 113 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAGGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621873 130621874 130621874 exon -10 0.8571429 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAGGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 59 68 0.9211949 0.9805305 0.9508627 0.993228 0.9918371 0.9938331 0.8183336 NA NA -0.07263815 0.1621969 0.9925325 0.9060833 NA 0.04477939 NA FALSE NA 1 4.489 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/28 rs200101291 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAG A,G 8.278e-06 3:130621874 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 synonymous_variant -0.02806 0.98157 0.92052 0.487112 0.7215195 0 3.591687e-45 FALSE 4.06527e-06 ENSE00002332853_025 ENSE00002332853 025 3 130340606 130340775 + 59 63 48 G A 130340728 2884 123 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAATAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621883 130621884 130621884 downstr_intron 1 1.021277 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAATAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 2014 77 0.001792931 0.004184557 0.002988744 0.993228 0.9918371 0.9938331 0.8183336 NA NA -0.9920402 -0.814149 0.9925325 0.9060833 NA -0.9030946 NA TRUE NA 1 4.744 . splice_donor_variant&NMD_transcript_variant HIGH COL6A6 HGNC 27023 ENST00000506143 16/27 rs566941847 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 AGT G,A 1.655e-05 3:130621884 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 splice_donor_variant 5.349494 0.98333 0.91542 0.061011 0.9945522 0.98659 3.591687e-45 FALSE 8.13147e-06 ENSE00002332853_026 ENSE00002332853 026 3 130340606 130340775 + 59 63 48 T A 130340742 2885 137 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTATATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621897 130621898 130621898 downstr_intron 15 1.319149 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTATATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 140 232 1 0.9903343 0.9951672 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1720007 0.9925325 0.9060833 NA 0.08908383 NA FALSE NA 0.012 1.599 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/27 1 NA TTT T,A 8.277e-06 3:130621898 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 intron_variant 1.336105 0.21726 0.06851 0.061011 0.684796 0.177818 3.591687e-45 FALSE 4.06921e-06 ENSE00002332853_029 ENSE00002332853 029 3 130340606 130340775 + 59 63 48 C T 130340751 2888 146 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCATCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 130621906 130621907 130621907 downstr_intron 24 1.510638 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCATCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 360 757 0.9878431 0.9950734 0.9914582 0.993228 0.9918371 0.9938331 0.8183336 NA NA -0.005990032 0.1767398 0.9925325 0.9060833 NA 0.0853749 NA FALSE NA 0.003 0.476 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/27 rs375266906 1 NA T:0 T:0.0001 ACC C,T 8.277e-06 3:130621907 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 intron_variant 0.137627 0.19051 0.0441 0.061011 0.5575175 0.162996 3.591687e-45 FALSE 4.07787e-06 ENSE00002332853_031 ENSE00002332853 031 3 130340606 130340775 + 59 63 48 G A 130340756 2890 151 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAATTGAGGTTTTCTGCTCAAG 130621761 130621931 130621911 130621912 130621912 downstr_intron 29 1.617021 GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAATTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG mutant NA NA NA NA NA 545 144 1 1 1 0.993228 0.9918371 0.9938331 0.8183336 NA NA 0.006166908 0.1816664 0.9925325 0.9060833 NA 0.09391666 NA FALSE NA 0 0.425 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/27 rs370940472 1 NA C:0 C:0.0001 AGT G,A 1.655e-05 3:130621912 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003484410 intron_variant -0.010132 0.16499 0.04342 0.061011 0.4236562 0.162996 3.591687e-45 FALSE 8.1636e-06 ENSE00002332853_BRK ENSE00002332853 BRK 3 130340606 130340775 + 59 63 48 A,G; T,T NA NA NA GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCTTGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAACCAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG 130621761 130621931 NA NA NA NA NA NA GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCTTGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAACCAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG GTTTGAAGAAAAGTTGCTTTATGTTTTGCTATATTTGCAAACCCCTTGTTTTGTTTCAGGGGCCTCCAGGACCCGGAGGAGAGGCAGGGAATCAAGGCCGTTTGGGAAGCCAAGGAAATAAAGTAGGTCACATTCTTTATACTCACCAAAGTTGAGGTTTTCTGCTCAAG control 30 10 0 0 0 NA NA NA NA NA 0.993228 0.9918371 0.9938331 0.8183336 -0.993228 -0.9918371 NA NA 0.9925325 0.9060833 -0.9925325 NA NA NA TRUE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003484410 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002332905_000 ENSE00002332905 000 21 47408935 47409104 + 63 54 53 NA NA NA NA NA TCGTTCCCCGCCTCCAGCTTCTTAGGGCCCCCACCCCACAGTCAGGCACTCACAGGATCTCCGGCTTCTCCCTTCTCTCCTGGGAGCCCCGGCTTGCCTCGTTCTCCCTGGAACACAAAACAGGTCAAGGTTGGGGCAGCCCCGTTTCTTTCTAAAAAGCTGGCTCACGA 45989020 45989190 NA NA NA NA NA NA TCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGA TCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCTTGACCTGTTTTGTGTTCCAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGTGAGTGCCTGACTGTGGGGTGGGGGCCCTAAGAAGCTGGAGGCGGGGAACGA natural NA NA NA NA NA 174 42 1 0.9710967 0.9855483 NA NA 1 0.9710967 NA NA 0 0 NA 0.9855483 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00002473380 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002333224_000 ENSE00002333224 000 12 123099496 123099665 + 42 96 32 NA NA NA NA NA GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 NA NA NA NA NA NA GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT natural NA NA NA NA NA 1675 1532 0.9835419 0.9318038 0.9576729 NA NA 0.9835419 0.9318038 NA NA 0 0 NA 0.9576729 NA 0 NA FALSE NA NA NA NA NA NA KNTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNTC1 NA NA NA ENSG00000184445 ENSE00003570088 NA NA NA NA NA NA NA 4.77718e-32 FALSE NA ENSE00002333224_002 ENSE00002333224 002 12 123099496 123099665 + 42 96 32 G T 123099531 3782 36 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGTCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122614983 122614984 122614984 upstr_intron -7 -0.1428571 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGTCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 97 201 1 1 1 NA NA 0.9835419 0.9318038 NA NA 0.01645811 0.06819618 NA 0.9576729 NA 0.04232714 NA FALSE NA 0 -0.16 . splice_region_variant&intron_variant LOW KNTC1 HGNC 17255 ENST00000436959 10/19 1 NA GGC G,T 8.277e-06 12:122614984 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 splice_region_variant -0.30888 0.25333 0.15424 0.295142 0.5515722 0.0829977 4.77718e-32 FALSE NA ENSE00002333224_004 ENSE00002333224 004 12 123099496 123099665 + 42 96 32 G A 123099550 3784 55 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGATGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615002 122615003 122615003 exon 13 0.1354167 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGATGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 318 683 1 0.9935169 0.9967585 NA NA 0.9835419 0.9318038 NA NA 0.01645811 0.06171311 NA 0.9576729 NA 0.03908561 NA FALSE NA 1 7.493 . 5_prime_UTR_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/20 1 NA GGT G,A 8.278e-06 12:122615003 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 missense_variant 5.727866 0.99388 0.98435 0.706548 0.99854 0 4.77718e-32 FALSE 4.08483e-06 ENSE00002333224_005 ENSE00002333224 005 12 123099496 123099665 + 42 96 32 T C 123099551 3785 56 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGCGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615003 122615004 122615004 exon 14 0.1458333 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGCGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant 15 12 0.9353969 0.85 0.8926984 693 1416 0.9899663 0.8939006 0.9419334 NA NA 0.9835419 0.9318038 NA NA 0.006424363 -0.03790324 NA 0.9576729 NA -0.01573944 NA FALSE NA 1 7.6 . 5_prime_UTR_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/20 1 NA GTG T,C 8.278e-06 12:122615004 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 missense_variant 6.341818 0.99493 0.98638 0.706548 0.999083 0 4.77718e-32 FALSE 8.1636e-06 ENSE00002333224_007 ENSE00002333224 007 12 123099496 123099665 + 42 96 32 A G 123099570 3787 75 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAGTACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615022 122615023 122615023 exon 33 0.34375 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAGTACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 358 559 0.9880388 0.9946816 0.9913602 NA NA 0.9835419 0.9318038 NA NA 0.004496921 0.06287775 NA 0.9576729 NA 0.03368733 NA FALSE NA 1 1.542 . 5_prime_UTR_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/20 1 NA AAT A,G 1.656e-05 12:122615023 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 synonymous_variant 0.878919 0.97854 0.8177 0.706548 0.8669394 0 4.77718e-32 FALSE 1.62898e-05 ENSE00002333224_008 ENSE00002333224 008 12 123099496 123099665 + 42 96 32 C T 123099573 3788 78 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATATAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615025 122615026 122615026 exon 36 0.375 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATATAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant 146 243 0.85 0.818271 0.8341355 4287 1222 0.9491406 0.8677673 0.908454 NA NA 0.9835419 0.9318038 NA NA -0.03440128 -0.06403652 NA 0.9576729 NA -0.0492189 NA FALSE NA 0.998 0.851 rs75711038 5_prime_UTR_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/20 rs75711038 1 T:0.0080 T:0.0303 T:0 NA T:0 T:0 T:0 T:0.0292 T:0.0005 ACA C,T 0.002649 12:122615026 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 synonymous_variant 1.017184 0.97929 0.83519 0.706548 0.6710207 0 4.77718e-32 FALSE 0.00212626 ENSE00002333224_010 ENSE00002333224 010 12 123099496 123099665 + 42 96 32 T C 123099587 3790 92 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCCGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615039 122615040 122615040 exon -47 0.5208333 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCCGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant 26 23 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9835419 0.9318038 NA NA NA NA NA 0.9576729 NA NA NA NA NA 1 3.065 . 5_prime_UTR_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/20 rs376634701 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0008 C:0 CTG T,C 0.0001159 12:122615040 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 missense_variant 4.533642 0.97373 0.77068 0.706548 0.9950007 0 4.77718e-32 FALSE 9.3636e-05 ENSE00002333224_013 ENSE00002333224 013 12 123099496 123099665 + 42 96 32 C T 123099616 3793 121 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGTTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615068 122615069 122615069 exon -18 0.8229167 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGTTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant 68 48 0.841897 0.85 0.8459485 391 2363 0.9514615 0.7657409 0.8586012 NA NA 0.9835419 0.9318038 NA NA -0.03208037 -0.1660629 NA 0.9576729 NA -0.09907164 NA FALSE NA 1 4.443 . 5_prime_UTR_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/20 rs574096690&COSM1193296 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCT C,T 4.139e-05 12:122615069 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 missense_variant 6.993774 0.9911 0.96274 0.706548 0.9989576 0 4.77718e-32 FALSE 6.54659e-05 ENSE00002333224_014 ENSE00002333224 014 12 123099496 123099665 + 42 96 32 T C 123099620 3794 125 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCCGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615072 122615073 122615073 exon -14 0.8645833 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCCGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 2088 1271 0.9621399 0.998336 0.9802379 NA NA 0.9835419 0.9318038 NA NA -0.02140203 0.06653215 NA 0.9576729 NA 0.02256506 NA FALSE NA 1 5.886 . 5_prime_UTR_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/20 rs371165754 1 NA C:0 C:0.0001 CTG T,C 1.656e-05 12:122615073 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 missense_variant 6.973107 0.99487 0.97995 0.706548 0.9990176 0 4.77718e-32 FALSE 1.63819e-05 ENSE00002333224_015 ENSE00002333224 015 12 123099496 123099665 + 42 96 32 A G 123099629 3795 134 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAGTATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615081 122615082 122615082 exon -5 0.9583333 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAGTATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 408 222 0.9962071 0.9996564 0.9979318 NA NA 0.9835419 0.9318038 NA NA 0.01266522 0.06785259 NA 0.9576729 NA 0.0402589 NA FALSE NA 0.136 0.859 . 5_prime_UTR_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/20 rs373000158 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0003 G:0.0001 AAT A,G 3.311e-05 12:122615082 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 missense_variant 0.865482 0.7141 0.26846 0.706548 0.9335967 0 4.77718e-32 FALSE 3.70032e-05 ENSE00002333224_016 ENSE00002333224 016 12 123099496 123099665 + 42 96 32 G A 123099633 3796 138 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATAGTAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615085 122615086 122615086 exon -1 1 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATAGTAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 1123 585 0.05311211 0.0005470548 0.02682958 NA NA 0.9835419 0.9318038 NA NA -0.9304298 -0.9312568 NA 0.9576729 NA -0.9308433 NA TRUE NA 1 7.526 . splice_region_variant&5_prime_UTR_variant LOW KNTC1 HGNC 17255 ENST00000436959 11/20 1 NA TGG G,A 1.656e-05 12:122615086 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 missense_variant 6.752794 0.99387 0.98517 0.706548 0.9975652 0 4.77718e-32 FALSE 8.26235e-06 ENSE00002333224_017 ENSE00002333224 017 12 123099496 123099665 + 42 96 32 A T 123099636 3797 141 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTTAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615088 122615089 122615089 downstr_intron 3 1.096774 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTTAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant 200 182 0 0 0 110 633 0 0.02452601 0.012263 NA NA 0.9835419 0.9318038 NA NA -0.9835419 -0.9072778 NA 0.9576729 NA -0.9454099 NA TRUE NA 1 0.966 . splice_region_variant&intron_variant LOW KNTC1 HGNC 17255 ENST00000436959 11/19 1 NA TAA A,T 8.278e-06 12:122615089 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 splice_region_variant 1.542073 0.97624 0.87934 0.099367 0.8845231 0.364485 4.77718e-32 FALSE NA ENSE00002333224_018 ENSE00002333224 018 12 123099496 123099665 + 42 96 32 C T 123099644 3798 149 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGATTCAATGCCCTCGACTAAGTAT 122614948 122615118 122615096 122615097 122615097 downstr_intron 11 1.354839 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGATTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 624 499 0.9985316 0.9855291 0.9920304 NA NA 0.9835419 0.9318038 NA NA 0.0149897 0.05372532 NA 0.9576729 NA 0.03435751 NA FALSE NA 0.003 -0.253 . intron_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/19 rs377145909 1 NA T:0 T:0.0001 ACT C,T 3.313e-05 12:122615097 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 intron_variant 1.179493 0.32908 0.02779 0.062308 0.6730953 0.21706 4.77718e-32 FALSE 2.96289e-05 ENSE00002333224_019 ENSE00002333224 019 12 123099496 123099665 + 42 96 32 C G 123099646 3799 151 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTGAATGCCCTCGACTAAGTAT 122614948 122615118 122615098 122615099 122615099 downstr_intron 13 1.419355 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTGAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant 32 36 0.85 0.85 0.85 698 1123 0.9526039 0.9687837 0.9606938 NA NA 0.9835419 0.9318038 NA NA -0.03093803 0.03697985 NA 0.9576729 NA 0.003020911 NA FALSE NA 0 -0.075 . intron_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/19 1 NA TCA C,G 8.281e-06 12:122615099 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 intron_variant 0.593566 0.33879 0.15897 0.062308 0.7043261 0.153721 4.77718e-32 FALSE 4.2351e-06 ENSE00002333224_020 ENSE00002333224 020 12 123099496 123099665 + 42 96 32 C T 123099651 3800 156 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGTCCTCGACTAAGTAT 122614948 122615118 122615103 122615104 122615104 downstr_intron 18 1.580645 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGTCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 1436 1128 0.9905345 0.992966 0.9917503 NA NA 0.9835419 0.9318038 NA NA 0.00699266 0.06116219 NA 0.9576729 NA 0.03407743 NA FALSE NA 0.063 0.594 . intron_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/19 1 NA GCC C,T 8.284e-06 12:122615104 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 intron_variant 0.544616 0.72153 0.03785 0.062308 0.641602 0.0589631 4.77718e-32 FALSE NA ENSE00002333224_021 ENSE00002333224 021 12 123099496 123099665 + 42 96 32 C T 123099655 3801 160 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTTGACTAAGTAT 122614948 122615118 122615107 122615108 122615108 downstr_intron 22 1.709677 GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTTGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT mutant NA NA NA NA NA 789 708 0.9988468 0.9964839 0.9976654 NA NA 0.9835419 0.9318038 NA NA 0.01530493 0.06468011 NA 0.9576729 NA 0.03999252 NA FALSE NA 0 -1.007 . intron_variant MODIFIER KNTC1 HGNC 17255 ENST00000436959 11/19 1 NA TCG C,T 3.315e-05 12:122615108 KNTC1 HGNC Symbol protein_coding 99150 ENSG00000184445 ENSE00003570088 intron_variant -0.140435 0.11898 0.00971 0.062308 0.4203434 0.0589631 4.77718e-32 FALSE 3.58083e-05 ENSE00002333224_BRK ENSE00002333224 BRK 12 123099496 123099665 + 42 96 32 A,G; T,T NA NA NA GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCTTGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGCCAAGTAAGACTCAATGCCCTCGACTAAGTAT 122614948 122615118 NA NA NA NA NA NA GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCTTGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGCCAAGTAAGACTCAATGCCCTCGACTAAGTAT GTGTCTTGGAATAGCATGATTTTTTTCTTTTTTTGGCTTCAGGCAGTAAGATTGGTGACTGAGCTGTGTTTAGAATACAAAATCTATGACCTGCAGCTTTGGAATGGACTCTTGCAAAAGCTTCTGGGCTTCAATATGGTAAGTAAGACTCAATGCCCTCGACTAAGTAT control 62 105 0 0 0 852 222 0 0.00878302 0.00439151 NA NA 0.9835419 0.9318038 NA NA -0.9835419 -0.9230208 NA 0.9576729 NA -0.9532813 NA TRUE NA NA NA NA NA NA KNTC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KNTC1 NA NA NA ENSG00000184445 ENSE00003570088 NA NA NA NA NA NA NA 4.77718e-32 FALSE NA ENSE00002333326_000 ENSE00002333326 000 17 27440993 27441162 - 36 87 47 NA NA NA NA NA CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 NA NA NA NA NA NA CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC natural 67 49 0.9985914 0.996906 0.9977487 1328 1619 0.9902387 0.984823 0.9875308 0.9985914 0.996906 0.9902387 0.984823 0 0 0 0 0.9977487 0.9875308 0 0 0 FALSE FALSE NA NA NA NA NA MYO18A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO18A NA NA NA ENSG00000196535 ENSE00003517188 NA NA NA NA NA NA NA 0.9994175 TRUE NA ENSE00002333326_001 ENSE00002333326 001 17 27440993 27441162 - 36 87 47 G A 27441003 1202 160 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGTAAGCCTTTCC 29113974 29114144 29113984 29113985 29113985 downstr_intron 26 1.742857 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGTAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 139 692 1 0.9990039 0.9995019 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01418093 0.9977487 0.9875308 NA 0.01197112 NA FALSE NA 0.029 0.252 . intron_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/40 rs532530919 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGC G,A 8.341e-06 17:29113985 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 intron_variant 0.043187 0.23872 0.08762 0.156188 0.4824149 0.10283 0.9994175 TRUE 2.21565e-05 ENSE00002333326_002 ENSE00002333326 002 17 27440993 27441162 - 36 87 47 C A 27441011 1203 152 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGTGTTTGGGCAAGCCTTTCC 29113974 29114144 29113992 29113993 29113993 downstr_intron 18 1.514286 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGTGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 201 21 1 0.9981669 0.9990835 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01334396 0.9977487 0.9875308 NA 0.01155264 NA FALSE NA 0 -0.236 . intron_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/40 1 NA CCC C,A 8.311e-06 17:29113993 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 intron_variant 0.440491 0.39675 0.17604 0.156188 0.58256 0.0455939 0.9994175 TRUE NA ENSE00002333326_003 ENSE00002333326 003 17 27440993 27441162 - 36 87 47 C A 27441022 1204 141 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGATCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114003 29114004 29114004 downstr_intron 7 1.2 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGATCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant 10 14 1 0.9980047 0.9990023 284 91 0.9997098 1 0.9998549 0.9985914 0.996906 0.9902387 0.984823 0.001408648 0.001098698 0.00947114 0.01517704 0.9977487 0.9875308 0.001253673 0.01232409 0.01107041 FALSE FALSE 0 -0.983 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:29114004 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 splice_region_variant 0.48525 0.26648 0.0998 0.156188 0.6559826 0.0455939 0.9994175 TRUE 9.75743e-05 ENSE00002333326_004 ENSE00002333326 004 17 27440993 27441162 - 36 87 47 C T 27441022 1205 141 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAACTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114003 29114004 29114004 downstr_intron 7 1.2 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAACTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 114 221 1 0.9910858 0.9955429 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.006262856 0.9977487 0.9875308 NA 0.008012085 NA FALSE NA 0 -0.983 NA NA NA MYO18A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO18A NA NA NA ENSG00000196535 ENSE00003517188 splice_region_variant 0.229705 0.11664 0.0024 0.156188 0.6666446 0.0455939 0.9994175 TRUE 0 ENSE00002333326_005 ENSE00002333326 005 17 27440993 27441162 - 36 87 47 C A 27441035 1206 128 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCATTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114016 29114017 29114017 exon -7 0.9310345 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCATTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 118 69 1 1 1 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01517704 0.9977487 0.9875308 NA 0.01246917 NA FALSE NA 1 1.385 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 rs369002205 1 NA A:0.0003 A:0 ACT C,A 1.657e-05 17:29114017 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 4.41729 0.97597 0.96376 0.706298 0.9972819 0 0.9994175 TRUE NA ENSE00002333326_007 ENSE00002333326 007 17 27440993 27441162 - 36 87 47 G A 27441040 1208 123 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCTATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114021 29114022 29114022 exon -12 0.8735632 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCTATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 488 704 1 1 1 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01517704 0.9977487 0.9875308 NA 0.01246917 NA FALSE NA 1 4.189 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA TGG G,A 8.283e-06 17:29114022 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 4.538658 0.983 0.97137 0.706298 0.9978567 0 0.9994175 TRUE NA ENSE00002333326_008 ENSE00002333326 008 17 27440993 27441162 - 36 87 47 G A 27441044 1209 119 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCTTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114025 29114026 29114026 exon -16 0.8275862 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCTTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 949 367 0.9983813 0.9887987 0.99359 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.008142599 0.003975714 0.9977487 0.9875308 NA 0.006059157 NA FALSE NA 0.99 0.272 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 rs373508391 1 NA AGG G,A 1.656e-05 17:29114026 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 synonymous_variant 1.265367 0.96637 0.86547 0.706298 0.8060889 0 0.9994175 TRUE NA ENSE00002333326_009 ENSE00002333326 009 17 27440993 27441162 - 36 87 47 T C 27441048 1210 115 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCGGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114029 29114030 29114030 exon -20 0.7816092 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCGGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 33 73 0.9720628 1 0.9860314 0.9985914 0.996906 0.9902387 0.984823 NA NA -0.01817584 0.01517704 0.9977487 0.9875308 NA -0.001499405 NA FALSE NA 1 5.307 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA CTG T,C 8.281e-06 17:29114030 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 4.363725 0.99096 0.98906 0.706298 0.9951961 0 0.9994175 TRUE NA ENSE00002333326_011 ENSE00002333326 011 17 27440993 27441162 - 36 87 47 C T 27441058 1212 105 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTACTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114039 29114040 29114040 exon -30 0.6666667 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTACTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 288 406 1 1 1 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01517704 0.9977487 0.9875308 NA 0.01246917 NA FALSE NA 0.002 1.588 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA GCA C,T 8.278e-06 17:29114040 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 2.122128 0.46526 0.4488 0.706298 0.9937386 0 0.9994175 TRUE NA ENSE00002333326_012 ENSE00002333326 012 17 27440993 27441162 - 36 87 47 T C 27441069 1213 94 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGGCTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114050 29114051 29114051 exon -41 0.5402299 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGGCTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 584 192 1 0.9988018 0.9994009 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01397882 0.9977487 0.9875308 NA 0.01187007 NA FALSE NA 0.979 1.663 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA GTC T,C 3.311e-05 17:29114051 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 1.727654 0.95417 0.72337 0.706298 0.9592285 0 0.9994175 TRUE 2.18455e-05 ENSE00002333326_014 ENSE00002333326 014 17 27440993 27441162 - 36 87 47 G A 27441075 1215 88 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGATGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114056 29114057 29114057 exon 41 0.4712644 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGATGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 36 219 1 1 1 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01517704 0.9977487 0.9875308 NA 0.01246917 NA FALSE NA 0.008 1.361 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA CGT G,A 1.656e-05 17:29114057 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 1.388961 0.30956 0.15639 0.706298 0.9836505 0 0.9994175 TRUE NA ENSE00002333326_015 ENSE00002333326 015 17 27440993 27441162 - 36 87 47 T C 27441076 1216 87 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGGCGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114057 29114058 29114058 exon 40 0.4597701 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGGCGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 63 304 1 0.9992276 0.9996138 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01440468 0.9977487 0.9875308 NA 0.012083 NA FALSE NA 0 0.046 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA GTC T,C 1.656e-05 17:29114058 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant -0.192055 0.22576 0.12763 0.706298 0.9027344 0 0.9994175 TRUE NA ENSE00002333326_016 ENSE00002333326 016 17 27440993 27441162 - 36 87 47 C G 27441077 1217 86 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCCACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114058 29114059 29114059 exon 39 0.4482759 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCCACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 293 374 1 0.9995769 0.9997884 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01475393 0.9977487 0.9875308 NA 0.01225762 NA FALSE NA 0.001 0.506 rs12601535 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 rs12601535&COSM3755367&COSM3755366 1 C:0.3147 G:0.7398 G:0.4914 NA G:0.9127 G:0.5179 G:0.6871 G:0.7118 G:0.5113 TCG G,G 0.555 17:29114059 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 synonymous_variant 1.26019 0.12917 0.00138 0.706298 0.5127816 0 0.9994175 TRUE 0.559473 ENSE00002333326_017 ENSE00002333326 017 17 27440993 27441162 - 36 87 47 G A 27441078 1218 85 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCTGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114059 29114060 29114060 exon 38 0.4367816 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCTGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant 36 106 0.8906031 0.919536 0.9050696 99 803 1 0.99871 0.999355 0.9985914 0.996906 0.9902387 0.984823 -0.1079882 -0.07736997 0.009761313 0.01388706 0.9977487 0.9875308 -0.0926791 0.01182419 0.1045033 FALSE FALSE 0.003 2.001 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA CGG G,A 8.278e-06 17:29114060 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 2.067409 0.35553 0.27711 0.706298 0.9471853 0 0.9994175 TRUE NA ENSE00002333326_019 ENSE00002333326 019 17 27440993 27441162 - 36 87 47 G A 27441089 1220 74 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGATTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114070 29114071 29114071 exon 27 0.3103448 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGATTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 344 39 0.9938257 1 0.9969129 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.003587042 0.01517704 0.9977487 0.9875308 NA 0.009382039 NA FALSE NA 0.998 2.859 rs35930200 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 rs35930200 1 A:0.0060 A:0.0219 A:0.0014 NA A:0 A:0 A:0 A:0.0171 A:0.0001 AGT G,A 0.001482 17:29114071 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 synonymous_variant 1.056041 0.97854 0.94214 0.706298 0.7113055 0 0.9994175 TRUE 0.00131965 ENSE00002333326_021 ENSE00002333326 021 17 27440993 27441162 - 36 87 47 C T 27441091 1222 72 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACAACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114072 29114073 29114073 exon 25 0.2873563 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACAACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 721 155 0.9995425 0.9989783 0.9992604 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009303791 0.01415532 0.9977487 0.9875308 NA 0.01172956 NA FALSE NA 0.999 5.082 NA NA NA MYO18A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:29114073 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 5.649662 0.99316 0.97614 0.706298 0.9987555 0 0.9994175 TRUE 5.35686e-05 ENSE00002333326_023 ENSE00002333326 023 17 27440993 27441162 - 36 87 47 A G 27441096 1224 67 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTCTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114077 29114078 29114078 exon 20 0.2298851 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTCTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant 23 10 0.9657784 1 0.9828892 NA NA NA NA NA 0.9985914 0.996906 0.9902387 0.984823 -0.03281297 0.003094011 NA NA 0.9977487 0.9875308 -0.01485948 NA NA NA FALSE 1 8.09 rs76946266 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA AAA A,G 4.139e-05 17:29114078 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 6.757991 0.99144 0.99654 0.706298 0.9971549 0 0.9994175 TRUE 5.84107e-05 ENSE00002333326_024 ENSE00002333326 024 17 27440993 27441162 - 36 87 47 G A 27441099 1225 64 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGTGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114080 29114081 29114081 exon 17 0.1954023 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGTGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 377 184 0.9991234 1 0.9995617 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.008884744 0.01517704 0.9977487 0.9875308 NA 0.01203089 NA FALSE NA 1 4.461 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 rs377102525 1 NA A:0 A:0.0001 CGC G,A 7.452e-05 17:29114081 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 4.496049 0.9933 0.98438 0.706298 0.9987279 0 0.9994175 TRUE 0.000104538 ENSE00002333326_025 ENSE00002333326 025 17 27440993 27441162 - 36 87 47 A G 27441108 1226 55 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACACCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114089 29114090 29114090 exon 8 0.09195402 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACACCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 135 2735 1 0.9989354 0.9994677 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.01411245 0.9977487 0.9875308 NA 0.01193688 NA FALSE NA 1 8.09 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA GAT A,G 2.484e-05 17:29114090 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 missense_variant 6.203495 0.99342 0.99739 0.706298 0.998123 0 0.9994175 TRUE 1.86583e-05 ENSE00002333326_026 ENSE00002333326 026 17 27440993 27441162 - 36 87 47 G A 27441110 1227 53 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAATATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114091 29114092 29114092 exon 6 0.06896552 CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAATATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 61 760 1 0.9922213 0.9961106 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 0.00739831 0.9977487 0.9875308 NA 0.008579812 NA FALSE NA 1 3.848 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 15/41 1 NA TGT G,A 8.284e-06 17:29114092 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 synonymous_variant 1.201631 0.98393 0.97054 0.706298 0.7437247 0 0.9994175 TRUE 4.70903e-06 ENSE00002333326_027 ENSE00002333326 027 17 27440993 27441162 - 36 87 47 A C 27441132 1228 31 CCACAATGTGACCCCCATGCTCACTACCGCGCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114113 29114114 29114114 upstr_intron -17 -0.3404255 CCACAATGTGACCCCCATGCTCACTACCGCGCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 107 248 1 0.8250758 0.9125379 0.9985914 0.996906 0.9902387 0.984823 NA NA 0.009761313 -0.1597471 0.9977487 0.9875308 NA -0.07499292 NA FALSE NA 0 0.749 . intron_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 14/40 1 NA GAG A,C 8.357e-06 17:29114114 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 non_coding_transcript_exon_variant -0.064044 0.24166 0.28267 0.099367 0.6036525 0.0673029 0.9994175 TRUE 5.39526e-06 ENSE00002333326_030 ENSE00002333326 030 17 27440993 27441162 - 36 87 47 G T 27441148 1231 15 CCACAATGTGACCCACATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 29114129 29114130 29114130 upstr_intron -33 -0.6808511 CCACAATGTGACCCACATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC mutant NA NA NA NA NA 445 229 0.8632463 0.9998336 0.93154 0.9985914 0.996906 0.9902387 0.984823 NA NA -0.1269923 0.01501068 0.9977487 0.9875308 NA -0.05599084 NA FALSE NA 0 -0.588 . intron_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 14/40 1 NA GGG G,T 8.431e-06 17:29114130 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003517188 non_coding_transcript_exon_variant -0.141434 0.15062 0.11311 0.093477 0.6516252 0.046875 0.9994175 TRUE NA ENSE00002333326_BRK ENSE00002333326 BRK 17 27440993 27441162 - 36 87 47 A,G; T,T NA NA NA CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCTTGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGCCAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC 29113974 29114144 NA NA NA NA NA NA CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCTTGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGCCAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC CCACAATGTGACCCCCATGCTCACTACCGCTCGGCCTTCTTTCCCAGGAGAACATCGAGCTGGCGTTTGACGACTTGGAACCCCCGACGGATGACTCTGTGGCTGCTGTGGACCAGGCCTCCCATCAGTCCCTGGTAGGAGCTCCAGAGAGGGTTTGGGCAAGCCTTTCC control 265 52 0 0 0 168 550 0.01095143 0.0143258 0.01263861 0.9985914 0.996906 0.9902387 0.984823 -0.9985914 -0.996906 -0.9792873 -0.9704972 0.9977487 0.9875308 -0.9977487 -0.9748922 0.02285646 TRUE TRUE NA NA NA NA NA MYO18A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO18A NA NA NA ENSG00000196535 ENSE00003517188 NA NA NA NA NA NA NA 0.9994175 TRUE NA ENSE00002333549_000 ENSE00002333549 000 1 19237845 19238014 - 33 93 44 NA NA NA NA NA CTCACGAGTGGGCTCCACGTCCCGAGCCCTCACCTCGATCTGACCTATCGTTTCCTGGTACTCCTTGTCTCTCGTCTTGAAGAAGGATTCGGTCTCATGGATCAAGTTGCCCAAGTTTTCCTCTTGCTGGGGAAATAGAACAAACGGGACAGTTTATTTTATTTATTTAT 18911350 18911520 NA NA NA NA NA NA ATAAATAAATAAAATAAACTGTCCCGTTTGTTCTATTTCCCCAGCAAGAGGAAAACTTGGGCAACTTGATCCATGAGACCGAATCCTTCTTCAAGACGAGAGACAAGGAGTACCAGGAAACGATAGGTCAGATCGAGGTGAGGGCTCGGGACGTGGAGCCCACTCGTGAG ATAAATAAATAAAATAAACTGTCCCGTTTGTTCTATTTCCCCAGCAAGAGGAAAACTTGGGCAACTTGATCCATGAGACCGAATCCTTCTTCAAGACGAGAGACAAGGAGTACCAGGAAACGATAGGTCAGATCGAGGTGAGGGCTCGGGACGTGGAGCCCACTCGTGAG natural NA NA NA NA NA 198 416 0.9794119 0.9908078 0.9851098 NA NA 0.9794119 0.9908078 NA NA 0 0 NA 0.9851098 NA 0 NA FALSE NA NA NA NA NA NA IFFO2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFFO2 NA NA NA ENSG00000169991 ENSE00003636774 NA NA NA NA NA NA NA 0.3825839 FALSE NA ENSE00002333549_BRK ENSE00002333549 BRK 1 19237845 19238014 - 33 93 44 A,G; T,T NA NA NA CTCACGAGTGGGCTCCACGTCCCGAGCCCTCGGCTCGATCTGACCTATCGTTTCCTGGTACTCCTTGTCTCTCGTCTTGAAGAAGGATTCGGTCTCATGGATCAAGTTGCCCAAGTTTTCCTCTTGAAGGGGAAATAGAACAAACGGGACAGTTTATTTTATTTATTTAT 18911350 18911520 NA NA NA NA NA NA ATAAATAAATAAAATAAACTGTCCCGTTTGTTCTATTTCCCCTTCAAGAGGAAAACTTGGGCAACTTGATCCATGAGACCGAATCCTTCTTCAAGACGAGAGACAAGGAGTACCAGGAAACGATAGGTCAGATCGAGCCGAGGGCTCGGGACGTGGAGCCCACTCGTGAG ATAAATAAATAAAATAAACTGTCCCGTTTGTTCTATTTCCCCAGCAAGAGGAAAACTTGGGCAACTTGATCCATGAGACCGAATCCTTCTTCAAGACGAGAGACAAGGAGTACCAGGAAACGATAGGTCAGATCGAGGTGAGGGCTCGGGACGTGGAGCCCACTCGTGAG control NA NA NA NA NA 81 140 0 0 0 NA NA 0.9794119 0.9908078 NA NA -0.9794119 -0.9908078 NA 0.9851098 NA -0.9851098 NA TRUE NA NA NA NA NA NA IFFO2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFFO2 NA NA NA ENSG00000169991 ENSE00003636774 NA NA NA NA NA NA NA 0.3825839 FALSE NA ENSE00002333772_000 ENSE00002333772 000 5 169410031 169410200 + 41 99 30 NA NA NA NA NA CTCTCTCAACTATTTATAGTATTTGTCTTCATTTCTTGCAGAGTCACTTTGTGGCATGTATGACAGCCATCTTAAACCAGATGGGTGACCAGCACTACTCCTTCTACATTGAGACCTTCCAGACCAGCTCTGAACTTGTGGTGAGTCTGCAGGATGCTGGGGGTGAGGAA 169983026 169983196 NA NA NA NA NA NA CTCTCTCAACTATTTATAGTATTTGTCTTCATTTCTTGCAGAGTCACTTTGTGGCATGTATGACAGCCATCTTAAACCAGATGGGTGACCAGCACTACTCCTTCTACATTGAGACCTTCCAGACCAGCTCTGAACTTGTGGTGAGTCTGCAGGATGCTGGGGGTGAGGAA CTCTCTCAACTATTTATAGTATTTGTCTTCATTTCTTGCAGAGTCACTTTGTGGCATGTATGACAGCCATCTTAAACCAGATGGGTGACCAGCACTACTCCTTCTACATTGAGACCTTCCAGACCAGCTCTGAACTTGTGGTGAGTCTGCAGGATGCTGGGGGTGAGGAA natural 21 54 0.85 0.9038351 0.8769175 607 1097 0.9882118 0.9935056 0.9908587 0.85 0.9038351 0.9882118 0.9935056 0 0 0 0 0.8769175 0.9908587 0 0 0 FALSE FALSE NA NA NA NA NA FAM196B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003540017 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002333772_018 ENSE00002333772 018 5 169410031 169410200 + 41 99 30 T C 169410133 2171 103 CTCTCTCAACTATTTATAGTATTTGTCTTCATTTCTTGCAGAGTCACTTTGTGGCATGTATGACAGCCATCTTAAACCAGATGGGTGACCAGCACTACTCCTCCTACATTGAGACCTTCCAGACCAGCTCTGAACTTGTGGTGAGTCTGCAGGATGCTGGGGGTGAGGAA 169983026 169983196 169983128 169983129 169983129 exon -38 0.6262626 CTCTCTCAACTATTTATAGTATTTGTCTTCATTTCTTGCAGAGTCACTTTGTGGCATGTATGACAGCCATCTTAAACCAGATGGGTGACCAGCACTACTCCTCCTACATTGAGACCTTCCAGACCAGCTCTGAACTTGTGGTGAGTCTGCAGGATGCTGGGGGTGAGGAA CTCTCTCAACTATTTATAGTATTTGTCTTCATTTCTTGCAGAGTCACTTTGTGGCATGTATGACAGCCATCTTAAACCAGATGGGTGACCAGCACTACTCCTTCTACATTGAGACCTTCCAGACCAGCTCTGAACTTGTGGTGAGTCTGCAGGATGCTGGGGGTGAGGAA mutant NA NA NA NA NA 166 34 1 1 1 0.85 0.9038351 0.9882118 0.9935056 NA NA 0.01178816 0.006494385 0.8769175 0.9908587 NA 0.009141274 NA FALSE NA 0.26 0.992 . upstream_gene_variant MODIFIER FAM196B HGNC 37271 ENST00000377365 1 NA TTC T,C 8.236e-06 5:169983129 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003540017 missense_variant 1.689545 0.26624 0.28862 0.706548 0.9221942 0 0.9999999 TRUE 4.07067e-06 ENSE00002334398_000 ENSE00002334398 000 1 156127802 156127971 + 59 63 48 NA NA NA NA NA GCCAGAGCTCTCTACCCACTCTACCCCTACTCCCCCACCTCCACTTACCTCATTGCTCTTCTTCTTAAAGGCACATTCACTCTTTTTTCTGTCACTGGCTGGCCACGGTATCTGAAAGTGGGGAGTTGGGAGGGCGAGATGAAAAGAAATAAGGTCCTCAGTTCTAGCTG 156158010 156158180 NA NA NA NA NA NA CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC natural 17 47 0.9775925 0.933287 0.9554398 249 877 0.9982171 0.8323927 0.9153049 0.9775925 0.933287 0.9982171 0.8323927 0 0 0 0 0.9554398 0.9153049 0 0 0 FALSE FALSE NA NA NA NA NA SEMA4A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA4A NA NA NA ENSG00000196189 ENSE00003623497 NA NA NA NA NA NA NA 0.6153716 FALSE NA ENSE00002334398_003 ENSE00002334398 003 1 156127802 156127971 + 59 63 48 C A 156127826 3726 25 GCCAGAGCTCTCTACCCACTCTACCCCTACTCCCCCACCTCCACTTACCTCATTGCTCTTCTTCTTAAAGGCACATTCACTCTTTTTTCTGTCACTGGCTGGCCACGGTATCTGAAAGTGGGGAGTTGGGAGGGCGAGATGAAAATAAATAAGGTCCTCAGTTCTAGCTG 156158010 156158180 156158034 156158035 156158035 upstr_intron -35 -0.5762712 CAGCTAGAACTGAGGACCTTATTTATTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC mutant NA NA NA NA NA 131 272 1 1 1 0.9775925 0.933287 0.9982171 0.8323927 NA NA 0.001782873 0.1676073 0.9554398 0.9153049 NA 0.0846951 NA FALSE NA 0.001 -0.327 . upstream_gene_variant MODIFIER SEMA4A HGNC 10729 ENST00000469065 1 NA TCT C,A 1.647e-05 1:156158035 SEMA4A HGNC Symbol protein_coding 30386 ENSG00000196189 ENSE00003623497 intron_variant 0.727986 0.21506 0.07679 0.12324 0.7370222 0.0532412 0.6153716 FALSE 8.17949e-06 ENSE00002334398_011 ENSE00002334398 011 1 156127802 156127971 + 59 63 48 C T 156127850 3734 49 GCCAGAGCTCTCTACCCACTCTACCCCTACTCCCCCACCTCCACTTACCTCATTGCTCTTCTTCTTAAAGGCACATTCACTCTTTTTTCTGTCACTGGCTGGCCACGGTATCTGAAAGTGGAGAGTTGGGAGGGCGAGATGAAAAGAAATAAGGTCCTCAGTTCTAGCTG 156158010 156158180 156158058 156158059 156158059 upstr_intron -11 -0.1694915 CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCTCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC mutant NA NA NA NA NA 19 59 0.9978137 1 0.9989068 0.9775925 0.933287 0.9982171 0.8323927 NA NA -0.0004034478 0.1676073 0.9554398 0.9153049 NA 0.08360193 NA FALSE NA 0 -0.177 . upstream_gene_variant MODIFIER SEMA4A HGNC 10729 ENST00000469065 1 NA CCC C,T 2.472e-05 1:156158059 SEMA4A HGNC Symbol protein_coding 30386 ENSG00000196189 ENSE00003623497 intron_variant 0.062552 0.17331 0.03345 0.12189 0.4822348 0.167906 0.6153716 FALSE 1.21919e-05 ENSE00002334398_015 ENSE00002334398 015 1 156127802 156127971 + 59 63 48 C T 156127865 3738 64 GCCAGAGCTCTCTACCCACTCTACCCCTACTCCCCCACCTCCACTTACCTCATTGCTCTTCTTCTTAAAGGCACATTCACTCTTTTTTCTGTCACTGGCTGGCCACAGTATCTGAAAGTGGGGAGTTGGGAGGGCGAGATGAAAAGAAATAAGGTCCTCAGTTCTAGCTG 156158010 156158180 156158073 156158074 156158074 exon 5 0.07936508 CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACTGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC mutant NA NA NA NA NA 30 12 1 1 1 0.9775925 0.933287 0.9982171 0.8323927 NA NA 0.001782873 0.1676073 0.9554398 0.9153049 NA 0.0846951 NA FALSE NA 0 0.093 rs143382589 upstream_gene_variant MODIFIER SEMA4A HGNC 10729 ENST00000469065 rs143382589&COSM3475167 1 NA T:0 T:0.0001 CCG C,T 4.942e-05 1:156158074 SEMA4A HGNC Symbol protein_coding 30386 ENSG00000196189 ENSE00003623497 missense_variant 1.482916 0.91245 0.13039 0.646311 0.4651705 0 0.6153716 FALSE 2.8443e-05 ENSE00002334398_028 ENSE00002334398 028 1 156127802 156127971 + 59 63 48 G A 156127957 3751 156 GCCAGAGCTCTCTATCCACTCTACCCCTACTCCCCCACCTCCACTTACCTCATTGCTCTTCTTCTTAAAGGCACATTCACTCTTTTTTCTGTCACTGGCTGGCCACGGTATCTGAAAGTGGGGAGTTGGGAGGGCGAGATGAAAAGAAATAAGGTCCTCAGTTCTAGCTG 156158010 156158180 156158165 156158166 156158166 downstr_intron 34 1.723404 CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGATAGAGAGCTCTGGC CAGCTAGAACTGAGGACCTTATTTCTTTTCATCTCGCCCTCCCAACTCCCCACTTTCAGATACCGTGGCCAGCCAGTGACAGAAAAAAGAGTGAATGTGCCTTTAAGAAGAAGAGCAATGAGGTAAGTGGAGGTGGGGGAGTAGGGGTAGAGTGGGTAGAGAGCTCTGGC mutant NA NA NA NA NA 45 250 1 1 1 0.9775925 0.933287 0.9982171 0.8323927 NA NA 0.001782873 0.1676073 0.9554398 0.9153049 NA 0.0846951 NA FALSE NA 0 -0.119 . upstream_gene_variant MODIFIER SEMA4A HGNC 10729 ENST00000469065 1 NA GGT G,A 8.236e-06 1:156158166 SEMA4A HGNC Symbol protein_coding 30386 ENSG00000196189 ENSE00003623497 intron_variant 0.192646 0.17014 0.04517 0.07321 0.4798291 0.0568747 0.6153716 FALSE 4.08587e-06 ENSE00002335404_000 ENSE00002335404 000 2 118709901 118710070 - 48 63 59 NA NA NA NA NA ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 NA NA NA NA NA NA ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT natural 92 76 0.9892781 0.9966504 0.9929643 5652 5596 0.9749199 0.9652861 0.970103 0.9892781 0.9966504 0.9749199 0.9652861 0 0 0 0 0.9929643 0.970103 0 0 0 FALSE FALSE NA NA NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC93 NA NA NA ENSG00000125633 ENSE00003647395 NA NA NA NA NA NA NA 0.06437526 FALSE NA ENSE00002335404_001 ENSE00002335404 001 2 118709901 118710070 - 48 63 59 G A 118709917 2515 154 ACAATTCTTGACAAGGACCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952340 117952341 117952341 downstr_intron 32 1.680851 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGTCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 2164 438 0.9531093 0.9919686 0.972539 0.9892781 0.9966504 0.9749199 0.9652861 NA NA -0.02181056 0.02668255 0.9929643 0.970103 NA 0.002435995 NA FALSE NA 0.005 0.105 . intron_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/2 1 NA GGC G,A 8.237e-06 2:117952341 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 intron_variant 0.31625 0.20417 0.02014 0.099367 0.7332511 0.0455089 0.06437526 FALSE 4.06865e-06 ENSE00002335404_002 ENSE00002335404 002 2 118709901 118710070 - 48 63 59 A T 118709929 2516 142 ACAATTCTTGACAAGGGCCCACAGAAGATGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952352 117952353 117952353 downstr_intron 20 1.425532 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCATCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 860 4451 0.9952567 0.9992377 0.9972472 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02033681 0.03395165 0.9929643 0.970103 NA 0.02714423 NA FALSE NA 0 -0.279 . intron_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/2 1 NA AAG A,T 8.237e-06 2:117952353 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 intron_variant -0.071522 0.21838 0.10574 0.156188 0.5062742 0.0567893 0.06437526 FALSE 4.0661e-06 ENSE00002335404_003 ENSE00002335404 003 2 118709901 118710070 - 48 63 59 G A 118709931 2517 140 ACAATTCTTGACAAGGGCCCACAGAAGAAGAAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952354 117952355 117952355 downstr_intron 18 1.382979 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTTCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 252 1691 0.8570997 0.9999065 0.9285031 0.9892781 0.9966504 0.9749199 0.9652861 NA NA -0.1178202 0.03462038 0.9929643 0.970103 NA -0.04159992 NA FALSE NA 0 -0.135 . intron_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/2 1 NA GGA G,A 8.237e-06 2:117952355 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 intron_variant 0.021757 0.23297 0.04671 0.156188 0.4675609 0.0567893 0.06437526 FALSE 4.06633e-06 ENSE00002335404_004 ENSE00002335404 004 2 118709901 118710070 - 48 63 59 C G 118709937 2518 134 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATGTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952360 117952361 117952361 downstr_intron 12 1.255319 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATACATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 1791 1133 0.999931 0.9983369 0.999134 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02501117 0.03305086 0.9929643 0.970103 NA 0.02903102 NA FALSE NA 0.005 0.305 . intron_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/2 1 NA TCT C,G 8.237e-06 2:117952361 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 intron_variant 0.213514 0.2627 0.19418 0.156188 0.5321049 0.0651678 0.06437526 FALSE 4.066e-06 ENSE00002335404_005 ENSE00002335404 005 2 118709901 118710070 - 48 63 59 T C 118709942 2519 129 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCCGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952365 117952366 117952366 downstr_intron 7 1.148936 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCGGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 780 250 0.9960596 1 0.9980298 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02113976 0.03471392 0.9929643 0.970103 NA 0.02792684 NA FALSE NA 0.875 1.203 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CCDC93 HGNC 25611 ENST00000488908 1/2 1 NA CTG T,C 1.647e-05 2:117952366 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 splice_region_variant 0.924701 0.40669 0.56152 0.156188 0.7500362 0.319626 0.06437526 FALSE 4.0656e-06 ENSE00002335404_006 ENSE00002335404 006 2 118709901 118710070 - 48 63 59 C T 118709958 2520 113 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGTGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952381 117952382 117952382 exon -10 0.8571429 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACACTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 1198 434 1 0.9991823 0.9995911 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02508013 0.03389618 0.9929643 0.970103 NA 0.02948815 NA FALSE NA 0 -4.53 rs142968515 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/3 rs142968515 1 T:0.0012 T:0.0038 T:0 NA T:0 T:0 T:0.001 T:0.0041 T:0 GCG C,T 0.0004612 2:117952382 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 synonymous_variant 2.18509 0.09075 0.01345 0.706548 0.6526121 0 0.06437526 FALSE 0.00034148 ENSE00002335404_007 ENSE00002335404 007 2 118709901 118710070 - 48 63 59 G A 118709959 2521 112 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCATTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952382 117952383 117952383 exon -11 0.8412698 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAATGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 506 73 0.9981142 0.9684016 0.9832579 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02319436 0.003115476 0.9929643 0.970103 NA 0.01315492 NA FALSE NA 0.748 0.529 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/3 COSM1005860 1 NA CGT G,A 6.589e-05 2:117952383 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 missense_variant 3.849341 0.44647 0.29314 0.706548 0.9812609 0 0.06437526 FALSE 6.09826e-05 ENSE00002335404_008 ENSE00002335404 008 2 118709901 118710070 - 48 63 59 T C 118709965 2522 106 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCCTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952388 117952389 117952389 exon -17 0.7460317 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAGGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 885 2327 0.9878319 0.9958977 0.9918648 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.01291199 0.03061163 0.9929643 0.970103 NA 0.02176181 NA FALSE NA 1 4.351 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/3 1 NA CTT T,C 2.471e-05 2:117952389 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 missense_variant 2.472077 0.94374 0.88965 0.706548 0.9947284 0 0.06437526 FALSE 1.62607e-05 ENSE00002335404_009 ENSE00002335404 009 2 118709901 118710070 - 48 63 59 T G 118709971 2523 100 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTGCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952394 117952395 117952395 exon -23 0.6507937 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGCAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 506 361 0.9481835 0.9258452 0.9370143 0.9892781 0.9966504 0.9749199 0.9652861 NA NA -0.0267364 -0.03944092 0.9929643 0.970103 NA -0.03308866 NA FALSE NA 0.625 2.876 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/3 rs111848781 1 NA TTC T,G 8.236e-06 2:117952395 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 missense_variant 1.902315 0.30599 0.65527 0.706548 0.96069 0 0.06437526 FALSE 4.06517e-06 ENSE00002335404_010 ENSE00002335404 010 2 118709901 118710070 - 48 63 59 A G 118709976 2524 95 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTGTATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952399 117952400 117952400 exon -28 0.5714286 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATACAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 307 426 0.9995972 0.9987394 0.9991683 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02467728 0.03345333 0.9929643 0.970103 NA 0.02906531 NA FALSE NA 0 -1.346 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/3 1 NA TAT A,G 2.471e-05 2:117952400 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 synonymous_variant 0.063187 0.13832 0.01325 0.706548 0.3622502 0 0.06437526 FALSE 1.2195e-05 ENSE00002335404_011 ENSE00002335404 011 2 118709901 118710070 - 48 63 59 G C 118709983 2525 88 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGCCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952406 117952407 117952407 exon 29 0.4603175 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGGCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 405 2053 1 0.9787132 0.9893566 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02508013 0.01342707 0.9929643 0.970103 NA 0.0192536 NA FALSE NA 0.983 1.886 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1/3 1 NA GGC G,C 8.236e-06 2:117952407 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 missense_variant 2.09792 0.85884 0.78179 0.706548 0.979721 0 0.06437526 FALSE 4.0656e-06 ENSE00002335404_012 ENSE00002335404 012 2 118709901 118710070 - 48 63 59 G A 118710004 2526 67 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTACTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952427 117952428 117952428 exon 8 0.1269841 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGTAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 2639 1078 0.9963379 0.9998533 0.9980956 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02141798 0.03456718 0.9929643 0.970103 NA 0.02799258 NA FALSE NA 1 3.697 . upstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA TGC G,A 8.236e-06 2:117952428 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 missense_variant 3.047748 0.93014 0.86228 0.706548 0.995656 0 0.06437526 FALSE 8.13213e-06 ENSE00002335404_014 ENSE00002335404 014 2 118709901 118710070 - 48 63 59 G C 118710008 2528 63 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCCCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952431 117952432 117952432 exon 4 0.06349206 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGGGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 564 1434 0.8935687 0.9985505 0.9460596 0.9892781 0.9966504 0.9749199 0.9652861 NA NA -0.08135121 0.03326441 0.9929643 0.970103 NA -0.0240434 NA FALSE NA 1 5.316 NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:117952432 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 missense_variant 3.784859 0.95191 0.92475 0.706548 0.9955358 0 0.06437526 FALSE 4.0665e-06 ENSE00002335404_015 ENSE00002335404 015 2 118709901 118710070 - 48 63 59 T G 118710015 2529 56 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGGAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952438 117952439 117952439 upstr_intron -4 -0.05084746 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTCCAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 4340 543 0.9967019 0.9997086 0.9982053 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02178206 0.03442255 0.9929643 0.970103 NA 0.0281023 NA FALSE NA 0.88 -0.112 rs117436218 upstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 rs117436218 1 G:0.0064 G:0 G:0 NA G:0.0308 G:0 G:0.001 GTA T,G 0.002133 2:117952439 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 splice_region_variant 1.451073 0.90401 0.4866 0.099367 0.8307956 0.481381 0.06437526 FALSE 0.00191934 ENSE00002335404_016 ENSE00002335404 016 2 118709901 118710070 - 48 63 59 G A 118710031 2530 40 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAAACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952454 117952455 117952455 upstr_intron -20 -0.3220339 ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTTTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 1111 2208 1 0.9651334 0.9825667 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02508013 -0.0001526501 0.9929643 0.970103 NA 0.01246374 NA FALSE NA 0.265 0.497 . upstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA AGA G,A 8.237e-06 2:117952455 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 intron_variant -0.110503 0.24051 0.15691 0.099367 0.4244235 0.107699 0.06437526 FALSE 1.22023e-05 ENSE00002335404_018 ENSE00002335404 018 2 118709901 118710070 - 48 63 59 T C 118710045 2532 26 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCACTTGATCCTTATGACAACACAGATGT 117952324 117952494 117952468 117952469 117952469 upstr_intron -34 -0.559322 ACATCTGTGTTGTCATAAGGATCAAGTGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 964 1237 0.9978814 0.9985368 0.9982091 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02296149 0.03325076 0.9929643 0.970103 NA 0.02810613 NA FALSE NA 0.001 0.26 . upstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA ATT T,C 8.237e-06 2:117952469 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 intron_variant 0.533886 0.27535 0.18131 0.099367 0.7345651 0.0584438 0.06437526 FALSE 4.0706e-06 ENSE00002335404_019 ENSE00002335404 019 2 118709901 118710070 - 48 63 59 T C 118710046 2533 25 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATCTGATCCTTATGACAACACAGATGT 117952324 117952494 117952469 117952470 117952470 upstr_intron -35 -0.5762712 ACATCTGTGTTGTCATAAGGATCAGATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 831 515 0.9966901 0.9999261 0.9983081 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02177021 0.03463999 0.9929643 0.970103 NA 0.0282051 NA FALSE NA 0 -0.569 . upstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA TTT T,C 8.237e-06 2:117952470 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 intron_variant 0.468261 0.24486 0.11846 0.099367 0.7239812 0.0584438 0.06437526 FALSE 4.07179e-06 ENSE00002335404_020 ENSE00002335404 020 2 118709901 118710070 - 48 63 59 T C 118710056 2534 15 ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCACCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGCTGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTACGACAACACAGATGT 117952324 117952494 117952479 117952480 117952480 upstr_intron -45 -0.7457627 ACATCTGTGTTGTCGTAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT mutant NA NA NA NA NA 15 1742 1 0.9440233 0.9720116 0.9892781 0.9966504 0.9749199 0.9652861 NA NA 0.02508013 -0.02126281 0.9929643 0.970103 NA 0.001908659 NA FALSE NA 0 -3.139 . upstream_gene_variant MODIFIER CCDC93 HGNC 25611 ENST00000488908 1 NA ATG T,C 1.647e-05 2:117952480 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003647395 intron_variant 0.167509 0.21404 0.02555 0.099367 0.5944049 0.0584438 0.06437526 FALSE 2.04062e-05 ENSE00002335404_BRK ENSE00002335404 BRK 2 118709901 118710070 - 48 63 59 A,G; T,T NA NA NA ACAATTCTTGACAAGGGCCCACAGAAGAAGGAGAATCTATCTGCTCGGCTCTGTCAGCGTTTTCTTGGCTTCATTATATCTGGCTTGTAGGCTGGTGTGACTTGCTCGCAGAAGTAAATGAAAGATAAAAGACATATGCTCTCATTTGATCCTTATGACAACACAGATGT 117952324 117952494 NA NA NA NA NA NA ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACTTCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGCCGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT ACATCTGTGTTGTCATAAGGATCAAATGAGAGCATATGTCTTTTATCTTTCATTTACAGCTGCGAGCAAGTCACACCAGCCTACAAGCCAGATATAATGAAGCCAAGAAAACGCTGACAGAGGTGAGCAGATAGATTCTCCTTCTTCTGTGGGCCCTTGTCAAGAATTGT control 38 27 0 0 0 1006 271 0.005869942 0.1289408 0.06740539 0.9892781 0.9966504 0.9749199 0.9652861 -0.9892781 -0.9966504 -0.9690499 -0.8363452 0.9929643 0.970103 -0.9929643 -0.9026976 0.09026668 TRUE TRUE NA NA NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC93 NA NA NA ENSG00000125633 ENSE00003647395 NA NA NA NA NA NA NA 0.06437526 FALSE NA ENSE00002335537_000 ENSE00002335537 000 5 72794903 72795072 + 56 69 45 NA NA NA NA NA ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 NA NA NA NA NA NA ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT natural 405 505 0.8486454 0.85 0.8493227 6798 5126 0.820189 0.7625776 0.7913833 0.8486454 0.85 0.820189 0.7625776 0 0 0 0 0.8493227 0.7913833 0 0 0 FALSE FALSE NA NA NA NA NA BTF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BTF3 NA NA NA ENSG00000145741 ENSE00003758849 NA NA NA NA NA NA NA 0.9043715 TRUE NA ENSE00002335537_001 ENSE00002335537 001 5 72794903 72795072 + 56 69 45 A G 72794913 703 11 ATGGAATGCTGGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499087 73499088 73499088 upstr_intron -46 -0.8035714 ATGGAATGCTGGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 369 319 0.8173278 0.7937539 0.8055409 0.8486454 0.85 0.820189 0.7625776 NA NA -0.002861227 0.03117631 0.8493227 0.7913833 NA 0.01415754 NA FALSE NA 0 -0.967 . intron_variant MODIFIER BTF3 HGNC 1125 ENST00000380591 1/5 1 NA TAG A,G 8.237e-06 5:73499088 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 intron_variant 0.59711 0.13221 0.02502 0.08998 0.6313977 0.126908 0.9043715 TRUE 1.32286e-05 ENSE00002335537_002 ENSE00002335537 002 5 72794903 72795072 + 56 69 45 G C 72794920 704 18 ATGGAATGCTAGAGTGACCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499094 73499095 73499095 upstr_intron -39 -0.6785714 ATGGAATGCTAGAGTGACCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 105 130 0.940648 0.8347395 0.8876937 0.8486454 0.85 0.820189 0.7625776 NA NA 0.1204589 0.07216193 0.8493227 0.7913833 NA 0.09631044 NA FALSE NA 0.002 0.026 . intron_variant MODIFIER BTF3 HGNC 1125 ENST00000380591 1/5 rs577889923 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AGC G,C 8.237e-06 5:73499095 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 intron_variant 0.20883 0.19933 0.09074 0.08998 0.726758 0.0733356 0.9043715 TRUE 4.25427e-06 ENSE00002335537_003 ENSE00002335537 003 5 72794903 72795072 + 56 69 45 C T 72794927 705 25 ATGGAATGCTAGAGTGAGCTAAACTTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499101 73499102 73499102 upstr_intron -32 -0.5535714 ATGGAATGCTAGAGTGAGCTAAACTTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 297 860 0.8018103 0.8 0.8009052 0.8486454 0.85 0.820189 0.7625776 NA NA -0.01837871 0.0374224 0.8493227 0.7913833 NA 0.009521847 NA FALSE NA 0 0.273 . intron_variant MODIFIER BTF3 HGNC 1125 ENST00000380591 1/5 1 NA CCT C,T 8.237e-06 5:73499102 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 intron_variant 0.951035 0.27113 0.0818 0.08998 0.8594454 0.0733356 0.9043715 TRUE 4.21831e-06 ENSE00002335537_005 ENSE00002335537 005 5 72794903 72795072 + 56 69 45 T G 72794930 707 28 ATGGAATGCTAGAGTGAGCTAAACCTAGCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499104 73499105 73499105 upstr_intron -29 -0.5 ATGGAATGCTAGAGTGAGCTAAACCTAGCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 496 500 0.8 0.8005056 0.8002528 0.8486454 0.85 0.820189 0.7625776 NA NA -0.02018902 0.03792798 0.8493227 0.7913833 NA 0.008869481 NA FALSE NA 0 0.722 . intron_variant MODIFIER BTF3 HGNC 1125 ENST00000380591 1/5 1 NA ATC T,G 8.237e-06 5:73499105 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 intron_variant 1.037663 0.26633 0.12909 0.08998 0.7702256 0.266879 0.9043715 TRUE 4.20578e-06 ENSE00002335537_006 ENSE00002335537 006 5 72794903 72795072 + 56 69 45 C T 72794946 708 44 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTTCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499120 73499121 73499121 upstr_intron -13 -0.2142857 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTTCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 458 1149 0.9987352 0.9980216 0.9983784 0.8486454 0.85 0.820189 0.7625776 NA NA 0.1785462 0.235444 0.8493227 0.7913833 NA 0.2069951 NA FALSE NA 0.625 0.198 . intron_variant MODIFIER BTF3 HGNC 1125 ENST00000380591 1/5 1 NA TCC C,T 3.295e-05 5:73499121 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 intron_variant 2.2305 0.19617 0.05614 0 0.9159622 0.358536 0.9043715 TRUE 7.50813e-05 ENSE00002335537_007 ENSE00002335537 007 5 72794903 72795072 + 56 69 45 G C 72794982 709 80 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCACGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499156 73499157 73499157 exon 24 0.3478261 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCACGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 425 231 0.8272428 0.8209057 0.8240743 0.8486454 0.85 0.820189 0.7625776 NA NA 0.007053784 0.05832813 0.8493227 0.7913833 NA 0.03269096 NA FALSE NA 0.978 0.16 . missense_variant MODERATE BTF3 HGNC 1125 ENST00000380591 2/6 1 deleterious(0.01) possibly_damaging(0.88) NA AGG G,C 8.236e-06 5:73499157 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 missense_variant 4.355677 0.87744 0.72348 0.733237 0.9923389 0 0.9043715 TRUE 4.07189e-06 ENSE00002335537_008 ENSE00002335537 008 5 72794903 72795072 + 56 69 45 A G 72794995 710 93 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCGAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499169 73499170 73499170 exon -33 0.5362319 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCGAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 311 807 0.9935314 0.9987165 0.9961239 0.8486454 0.85 0.820189 0.7625776 NA NA 0.1733423 0.2361389 0.8493227 0.7913833 NA 0.2047406 NA FALSE NA 1 9.059 . missense_variant MODERATE BTF3 HGNC 1125 ENST00000380591 2/6 1 deleterious(0.01) possibly_damaging(0.806) NA CAA A,G 8.236e-06 5:73499170 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 missense_variant 6.496329 0.96829 0.96222 0.733237 0.9984233 0 0.9043715 TRUE 4.07847e-06 ENSE00002335537_009 ENSE00002335537 009 5 72794903 72795072 + 56 69 45 G A 72795003 711 101 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAAGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499177 73499178 73499178 exon -25 0.6521739 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAAGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 658 394 0.7975986 0.8 0.7987993 0.8486454 0.85 0.820189 0.7625776 NA NA -0.02259044 0.0374224 0.8493227 0.7913833 NA 0.007415979 NA FALSE NA 1 2.135 rs56029107 synonymous_variant LOW BTF3 HGNC 1125 ENST00000380591 2/6 rs56029107 1 A:0.0046 A:0.0015 A:0.0029 NA A:0 A:0.0189 A:0 A:0.0043 A:0.0173 AGG G,A 0.012 5:73499178 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 synonymous_variant 1.053374 0.93546 0.71595 0.733237 0.7355383 0 0.9043715 TRUE 0.0128514 ENSE00002335537_010 ENSE00002335537 010 5 72794903 72795072 + 56 69 45 C G 72795005 712 103 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGGACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499179 73499180 73499180 exon -23 0.6811594 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGGACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 824 713 0.9877107 0.988733 0.9882219 0.8486454 0.85 0.820189 0.7625776 NA NA 0.1675217 0.2261554 0.8493227 0.7913833 NA 0.1968386 NA FALSE NA 1 7.585 . missense_variant MODERATE BTF3 HGNC 1125 ENST00000380591 2/6 1 tolerated(0.14) benign(0.359) NA GCA C,G 8.236e-06 5:73499180 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 missense_variant 3.552874 0.97017 0.9513 0.733237 0.9919222 0 0.9043715 TRUE 4.06772e-06 ENSE00002335537_011 ENSE00002335537 011 5 72794903 72795072 + 56 69 45 A G 72795027 713 125 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAGGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499201 73499202 73499202 exon -1 1 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAGGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 609 578 0.9980644 0.9876877 0.992876 0.8486454 0.85 0.820189 0.7625776 NA NA 0.1778754 0.2251101 0.8493227 0.7913833 NA 0.2014927 NA FALSE NA 1 5.242 . splice_region_variant&synonymous_variant LOW BTF3 HGNC 1125 ENST00000380591 2/6 1 NA AAG A,G 8.237e-06 5:73499202 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 splice_region_variant 2.142355 0.9518 0.52075 0.733237 0.8221204 0 0.9043715 TRUE 8.12321e-06 ENSE00002335537_012 ENSE00002335537 012 5 72794903 72795072 + 56 69 45 T C 72795036 714 134 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTCAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 73499210 73499211 73499211 downstr_intron 9 1.204545 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTCAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 161 888 0.8069833 0.6528335 0.7299084 0.8486454 0.85 0.820189 0.7625776 NA NA -0.01320568 -0.1097441 0.8493227 0.7913833 NA -0.06147491 NA FALSE NA 0.135 -0.645 . intron_variant MODIFIER BTF3 HGNC 1125 ENST00000380591 2/5 rs556919645 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTA T,C 1.647e-05 5:73499211 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 non_coding_transcript_exon_variant 2.381481 0.26815 0.02168 0.078958 0.7469603 0.240473 0.9043715 TRUE 2.0312e-05 ENSE00002335537_014 ENSE00002335537 014 5 72794903 72795072 + 56 69 45 T G 72795056 716 154 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGGTTTTTTTTTAAGGTTT 73499077 73499247 73499230 73499231 73499231 downstr_intron 29 1.659091 ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGGTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT mutant NA NA NA NA NA 777 1992 0.8056876 0.8086198 0.8071537 0.8486454 0.85 0.820189 0.7625776 NA NA -0.01450143 0.04604217 0.8493227 0.7913833 NA 0.01577037 NA FALSE NA 0.002 1.019 . intron_variant MODIFIER BTF3 HGNC 1125 ENST00000380591 2/5 ~rs56263023 1 NA GTT T,G 0.0003003 5:73499231 BTF3 HGNC Symbol protein_coding 7227 ENSG00000145741 ENSE00003758849 non_coding_transcript_exon_variant 0.443238 0.26671 0.13039 0.07321 0.5132104 0.0555425 0.9043715 TRUE NA ENSE00002335537_BRK ENSE00002335537 BRK 5 72794903 72795072 + 56 69 45 A,G; T,T NA NA NA ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTTTATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAACCAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT 73499077 73499247 NA NA NA NA NA NA ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTTTATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAACCAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT ATGGAATGCTAGAGTGAGCTAAACCTATCCTTGCTGAGGATTTCCTCTTTTTCTAGATGAAAGAAACAATCATGAACCAGGAAAAACTCGCCAAACTGCAGGCACAAGTGCGCATTGGTGGGAAAGTAAGTTTTAATAGTTCGGGTTTGTGGGTTTTTTTTTTAAGGTTT control NA NA NA NA NA 1846 1298 0.001629531 0.01082922 0.006229373 0.8486454 0.85 0.820189 0.7625776 NA NA -0.8185595 -0.7517484 0.8493227 0.7913833 NA -0.7851539 NA TRUE NA NA NA NA NA NA BTF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BTF3 NA NA NA ENSG00000145741 ENSE00003758849 NA NA NA NA NA NA NA 0.9043715 TRUE NA ENSE00002336324_000 ENSE00002336324 000 17 72324514 72324683 + 50 81 39 NA NA NA NA NA CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 NA NA NA NA NA NA CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT natural 23 24 0.9835257 1 0.9917629 670 467 0.9936974 0.8570285 0.9253629 0.9835257 1 0.9936974 0.8570285 0 0 0 0 0.9917629 0.9253629 0 0 0 FALSE FALSE NA NA NA NA NA KIF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF19 NA NA NA ENSG00000196169 ENSE00003630890 NA NA NA NA NA NA NA 5.371234e-13 FALSE NA ENSE00002336324_001 ENSE00002336324 001 17 72324514 72324683 + 50 81 39 C G 72324533 2930 20 CCAGCATGGTCCTCTCCCTGTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328393 74328394 74328394 upstr_intron -31 -0.6 CCAGCATGGTCCTCTCCCTGTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant 12 77 0.85 0.85 0.85 35 91 0.9863045 0.9666147 0.9764596 0.9835257 1 0.9936974 0.8570285 -0.1335257 -0.15 -0.007392853 0.1095862 0.9917629 0.9253629 -0.1417629 0.05109665 0.1928595 FALSE FALSE 0.047 0.399 rs143033806 intron_variant MODIFIER KIF19 HGNC 26735 ENST00000389916 1/19 rs143033806 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 TCT C,G 3.308e-05 17:74328394 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 intron_variant 0.432871 0.20282 0.03827 0.095506 0.7345192 0.155443 5.371234e-13 FALSE 1.99681e-05 ENSE00002336324_003 ENSE00002336324 003 17 72324514 72324683 + 50 81 39 A G 72324541 2932 28 CCAGCATGGTCCTCTCCCTCTAATCCCGGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328401 74328402 74328402 upstr_intron -23 -0.44 CCAGCATGGTCCTCTCCCTCTAATCCCGGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 117 161 1 1 1 0.9835257 1 0.9936974 0.8570285 NA NA 0.006302604 0.1429715 0.9917629 0.9253629 NA 0.07463705 NA FALSE NA 0 -1.486 NA NA NA KIF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:74328402 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 intron_variant -0.200046 0.09382 0.00437 0.095506 0.2325107 0.155443 5.371234e-13 FALSE 0.000745311 ENSE00002336324_008 ENSE00002336324 008 17 72324514 72324683 + 50 81 39 C T 72324573 2937 60 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTTGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328433 74328434 74328434 exon 10 0.1234568 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTTGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 471 220 0.9999126 0.9700699 0.9849913 0.9835257 1 0.9936974 0.8570285 NA NA 0.006215197 0.1130414 0.9917629 0.9253629 NA 0.05962832 NA FALSE NA 0.96 0.993 rs140463696 missense_variant MODERATE KIF19 HGNC 26735 ENST00000389916 2/20 rs140463696 1 deleterious(0) probably_damaging(1) NA T:0 T:0.0002 TCG C,T 4.946e-05 17:74328434 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 missense_variant 7.298383 0.96393 0.57183 0.582742 0.9991537 0 5.371234e-13 FALSE 3.40405e-05 ENSE00002336324_010 ENSE00002336324 010 17 72324514 72324683 + 50 81 39 G T 72324576 2939 63 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGTTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328436 74328437 74328437 exon 13 0.1604938 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGTTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant 11 10 1 1 1 NA NA NA NA NA 0.9835257 1 0.9936974 0.8570285 0.01647428 0 NA NA 0.9917629 0.9253629 0.008237139 NA NA NA FALSE 1 0.841 rs147059711 missense_variant MODERATE KIF19 HGNC 26735 ENST00000389916 2/20 rs147059711 1 deleterious(0) possibly_damaging(0.853) NA T:0 T:0.0001 GGT G,T 3.297e-05 17:74328437 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 missense_variant 5.675446 0.95472 0.66851 0.582742 0.9946965 0 5.371234e-13 FALSE 5.06509e-05 ENSE00002336324_012 ENSE00002336324 012 17 72324514 72324683 + 50 81 39 C G 72324579 2941 66 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCGGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328439 74328440 74328440 exon 16 0.1975309 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCGGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 338 48 1 1 1 0.9835257 1 0.9936974 0.8570285 NA NA 0.006302604 0.1429715 0.9917629 0.9253629 NA 0.07463705 NA FALSE NA 0.999 1.994 NA NA NA KIF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:74328440 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 missense_variant 6.785536 0.97092 0.78542 0.582742 0.9978076 0 5.371234e-13 FALSE 4.21049e-06 ENSE00002336324_013 ENSE00002336324 013 17 72324514 72324683 + 50 81 39 G A 72324580 2942 67 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCAGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328440 74328441 74328441 exon 17 0.2098765 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCAGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 194 11 1 1 1 0.9835257 1 0.9936974 0.8570285 NA NA 0.006302604 0.1429715 0.9917629 0.9253629 NA 0.07463705 NA FALSE NA 1 6.642 . missense_variant MODERATE KIF19 HGNC 26735 ENST00000389916 2/20 1 deleterious(0) probably_damaging(0.999) NA CGG G,A 8.241e-06 17:74328441 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 missense_variant 7.49792 0.9816 0.9339 0.582742 0.9993391 0 5.371234e-13 FALSE 1.68098e-05 ENSE00002336324_015 ENSE00002336324 015 17 72324514 72324683 + 50 81 39 C T 72324590 2944 77 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGTGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328450 74328451 74328451 exon 27 0.3333333 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGTGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 585 465 0.9961683 1 0.9980842 0.9835257 1 0.9936974 0.8570285 NA NA 0.002470929 0.1429715 0.9917629 0.9253629 NA 0.07272122 NA FALSE NA 0.103 -1.32 rs147705520 synonymous_variant LOW KIF19 HGNC 26735 ENST00000389916 2/20 rs147705520&COSM1385740 1 NA T:0.0007 T:0 GCG C,T 5.769e-05 17:74328451 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 synonymous_variant 2.55024 0.95141 0.04397 0.582742 0.8507774 0 5.371234e-13 FALSE 4.59812e-05 ENSE00002336324_016 ENSE00002336324 016 17 72324514 72324683 + 50 81 39 G A 72324591 2945 78 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCATGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328451 74328452 74328452 exon 28 0.345679 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCATGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 47 11 1 1 1 0.9835257 1 0.9936974 0.8570285 NA NA 0.006302604 0.1429715 0.9917629 0.9253629 NA 0.07463705 NA FALSE NA 0.814 2.988 . missense_variant MODERATE KIF19 HGNC 26735 ENST00000389916 2/20 rs553967354 1 tolerated(0.14) benign(0.148) A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 CGT G,A 4.12e-05 17:74328452 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 missense_variant 3.276485 0.97104 0.80874 0.582742 0.9961818 0 5.371234e-13 FALSE 2.92205e-05 ENSE00002336324_018 ENSE00002336324 018 17 72324514 72324683 + 50 81 39 G A 72324612 2947 99 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAACTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328472 74328473 74328473 exon -33 0.6049383 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAACTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 61 252 1 1 1 0.9835257 1 0.9936974 0.8570285 NA NA 0.006302604 0.1429715 0.9917629 0.9253629 NA 0.07463705 NA FALSE NA 1 4.958 . missense_variant MODERATE KIF19 HGNC 26735 ENST00000389916 2/20 1 deleterious(0) possibly_damaging(0.542) NA AGC G,A 1.649e-05 17:74328473 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 missense_variant 5.906669 0.97104 0.85716 0.516011 0.9992196 0 5.371234e-13 FALSE 8.35422e-06 ENSE00002336324_019 ENSE00002336324 019 17 72324514 72324683 + 50 81 39 C T 72324616 2948 103 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTATCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328476 74328477 74328477 exon -29 0.654321 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTATCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 99 72 1 1 1 0.9835257 1 0.9936974 0.8570285 NA NA 0.006302604 0.1429715 0.9917629 0.9253629 NA 0.07463705 NA FALSE NA 0.999 2.752 . missense_variant MODERATE KIF19 HGNC 26735 ENST00000389916 2/20 1 deleterious(0.02) possibly_damaging(0.806) NA ACC C,T 8.246e-06 17:74328477 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 missense_variant 6.174184 0.98111 0.78053 0.516011 0.99914 0 5.371234e-13 FALSE NA ENSE00002336324_022 ENSE00002336324 022 17 72324514 72324683 + 50 81 39 G T 72324645 2951 132 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGTTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328505 74328506 74328506 downstr_intron 1 1.026316 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGTTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant 14 23 0.85 0.85 0.85 NA NA NA NA NA 0.9835257 1 0.9936974 0.8570285 -0.1335257 -0.15 NA NA 0.9917629 0.9253629 -0.1417629 NA NA NA FALSE 1 6.642 . splice_donor_variant HIGH KIF19 HGNC 26735 ENST00000389916 2/19 1 NA HC GGT G,T 1.934e-05 17:74328506 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 splice_donor_variant 4.788497 0.98201 0.94281 0.080785 0.994846 0.977652 5.371234e-13 FALSE NA ENSE00002336324_023 ENSE00002336324 023 17 72324514 72324683 + 50 81 39 T G 72324646 2952 133 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGGATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328506 74328507 74328507 downstr_intron 2 1.052632 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGGATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant 69 72 0.85 0.85 0.85 NA NA NA NA NA 0.9835257 1 0.9936974 0.8570285 -0.1335257 -0.15 NA NA 0.9917629 0.9253629 -0.1417629 NA NA NA FALSE 1 5.436 . splice_donor_variant HIGH KIF19 HGNC 26735 ENST00000389916 2/19 1 NA HC GTA T,G 9.678e-06 17:74328507 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 splice_donor_variant 4.78539 0.97861 0.9103 0.074388 0.9929136 0.880809 5.371234e-13 FALSE 5.69068e-06 ENSE00002336324_024 ENSE00002336324 024 17 72324514 72324683 + 50 81 39 A G 72324647 2953 134 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTGTGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328507 74328508 74328508 downstr_intron 3 1.078947 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTGTGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 37 199 1 1 1 0.9835257 1 0.9936974 0.8570285 NA NA 0.006302604 0.1429715 0.9917629 0.9253629 NA 0.07463705 NA FALSE NA 0.998 4.03 . splice_region_variant&intron_variant LOW KIF19 HGNC 26735 ENST00000389916 2/19 1 NA TAT A,G 9.677e-06 17:74328508 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 splice_region_variant 1.881828 0.97503 0.45261 0.074388 0.9663539 0.877711 5.371234e-13 FALSE NA ENSE00002336324_026 ENSE00002336324 026 17 72324514 72324683 + 50 81 39 C T 72324660 2955 147 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGTAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 74328520 74328521 74328521 downstr_intron 16 1.421053 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGTAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 1012 384 0.9964143 0.8 0.8982071 0.9835257 1 0.9936974 0.8570285 NA NA 0.002716866 -0.0570285 0.9917629 0.9253629 NA -0.02715582 NA FALSE NA 0 -0.081 . intron_variant MODIFIER KIF19 HGNC 26735 ENST00000389916 2/19 rs377445897 1 NA T:0 T:0.0002 GCA C,T 1.654e-05 17:74328521 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 non_coding_transcript_exon_variant 0.294229 0.21414 0.02358 0.074388 0.6019911 0.166298 5.371234e-13 FALSE NA ENSE00002336324_027 ENSE00002336324 027 17 72324514 72324683 + 50 81 39 G A 72324671 2956 158 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTACAGGGCAGAGGT 74328374 74328544 74328531 74328532 74328532 downstr_intron 27 1.710526 CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTACAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT mutant NA NA NA NA NA 395 312 1 0.9994928 0.9997464 0.9835257 1 0.9936974 0.8570285 NA NA 0.006302604 0.1424643 0.9917629 0.9253629 NA 0.07438344 NA FALSE NA 0 -0.556 . intron_variant MODIFIER KIF19 HGNC 26735 ENST00000389916 2/19 1 NA TGC G,A 2.488e-05 17:74328532 KIF19 HGNC Symbol protein_coding 29610 ENSG00000196169 ENSE00003630890 non_coding_transcript_exon_variant 0.010962 0.18919 0.05241 0.074388 0.5181565 0.166298 5.371234e-13 FALSE NA ENSE00002336324_BRK ENSE00002336324 BRK 17 72324514 72324683 + 50 81 39 A,G; T,T NA NA NA CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCTTGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGCCATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT 74328374 74328544 NA NA NA NA NA NA CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCTTGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGCCATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT CCAGCATGGTCCTCTCCCTCTAATCCCAGGGGCTTGGTTTTCCCTCCCAGGTGGCGCTTCGGGTCCGGCCCATCAGCGTGGCAGAGCTGGAGGAAGGAGCTACCCTCATCGCCCATAAAGTGGATGAGCAGGTATGCAGGGCTCTGCAGCAGGAGCTGCAGGGCAGAGGT control 18 35 0 0 0 13 48 0 0 0 0.9835257 1 0.9936974 0.8570285 -0.9835257 -1 -0.9936974 -0.8570285 0.9917629 0.9253629 -0.9917629 -0.9253629 0.06639991 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KIF19 NA NA NA ENSG00000196169 ENSE00003630890 NA NA NA NA NA NA NA 5.371234e-13 FALSE NA ENSE00002336879_000 ENSE00002336879 000 3 130327687 130327856 + 59 63 48 NA NA NA NA NA CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 NA NA NA NA NA NA GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG natural 98 26 0.9148592 0.9982407 0.95655 5691 6400 0.9559627 0.9501999 0.9530813 0.9148592 0.9982407 0.9559627 0.9501999 0 0 0 0 0.95655 0.9530813 0 0 0 FALSE FALSE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003513286 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002336879_002 ENSE00002336879 002 3 130327687 130327856 + 59 63 48 G A 130327703 2837 17 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAATATTTTGTCTCCTTTAC 130608842 130609012 130608858 130608859 130608859 upstr_intron -43 -0.7118644 GTAAAGGAGACAAAATATTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 334 489 1 1 1 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.04980006 0.95655 0.9530813 NA 0.04691867 NA FALSE NA 0.005 0.197 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 13/27 1 NA TGT G,A 3.307e-05 3:130608859 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 intron_variant -0.090218 0.21377 0.02303 0.061011 0.4016438 0.0455939 3.591687e-45 FALSE 3.78839e-05 ENSE00002336879_003 ENSE00002336879 003 3 130327687 130327856 + 59 63 48 T C 130327704 2838 18 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAGCATTTTGTCTCCTTTAC 130608842 130609012 130608859 130608860 130608860 upstr_intron -42 -0.6949153 GTAAAGGAGACAAAATGCTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 14 15 1 1 1 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.04980006 0.95655 0.9530813 NA 0.04691867 NA FALSE NA 0 -1.854 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 13/27 1 NA GTT T,C 8.267e-06 3:130608860 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 intron_variant -0.323615 0.08157 0.00083 0.061011 0.4164624 0.0455939 3.591687e-45 FALSE 4.20242e-06 ENSE00002336879_006 ENSE00002336879 006 3 130327687 130327856 + 59 63 48 A G 130327723 2841 37 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCCGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608878 130608879 130608879 upstr_intron -23 -0.3728814 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACGGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 40 88 1 1 1 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.04980006 0.95655 0.9530813 NA 0.04691867 NA FALSE NA 0 -0.345 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 13/27 1 NA CAG A,G 8.267e-06 3:130608879 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 intron_variant 0.00171 0.14619 0.01436 0.061011 0.6059095 0.046323 3.591687e-45 FALSE NA ENSE00002336879_007 ENSE00002336879 007 3 130327687 130327856 + 59 63 48 C T 130327738 2842 52 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCAAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608893 130608894 130608894 upstr_intron -8 -0.1186441 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTTGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 123 64 1 1 1 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.04980006 0.95655 0.9530813 NA 0.04691867 NA FALSE NA 0.837 1.179 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 13/27 rs545412732 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 0.0001157 3:130608894 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 splice_region_variant 1.210968 0.96045 0.4747 0.061011 0.5639036 0.749007 3.591687e-45 FALSE 0.000138459 ENSE00002336879_008 ENSE00002336879 008 3 130327687 130327856 + 59 63 48 G A 130327739 2843 53 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGTGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608894 130608895 130608895 upstr_intron -7 -0.1016949 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCACCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 1068 210 0.9976648 0.9998186 0.9987417 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04170208 0.04961863 0.95655 0.9530813 NA 0.04566036 NA FALSE NA 0.141 0.305 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 13/27 1 NA CGC G,A 2.48e-05 3:130608895 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 splice_region_variant 0.558653 0.73001 0.00314 0.061011 0.6316491 0.208282 3.591687e-45 FALSE 2.85033e-05 ENSE00002336879_009 ENSE00002336879 009 3 130327687 130327856 + 59 63 48 C A 130327740 2844 54 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGTCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608895 130608896 130608896 upstr_intron -6 -0.08474576 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGACACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 574 2311 0.9782535 0.9992389 0.9887462 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.02229078 0.04903893 0.95655 0.9530813 NA 0.03566485 NA FALSE NA 0.002 -0.25 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 13/27 1 NA GCC C,A 0.0001819 3:130608896 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 splice_region_variant 0.884124 0.85522 0.10825 0.061011 0.633965 0.197208 3.591687e-45 FALSE 0.00013836 ENSE00002336879_010 ENSE00002336879 010 3 130327687 130327856 + 59 63 48 A C 130327758 2845 72 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGAGGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608913 130608914 130608914 exon 13 0.2063492 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCCTCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 85 72 1 0.9631413 0.9815707 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.0129414 0.95655 0.9530813 NA 0.02848934 NA FALSE NA 0.017 0.766 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/28 1 NA CAT A,C 4.134e-05 3:130608914 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 missense_variant 0.014314 0.1604 0.03388 0.487112 0.6540395 0 3.591687e-45 FALSE 2.43924e-05 ENSE00002336879_011 ENSE00002336879 011 3 130327687 130327856 + 59 63 48 C T 130327760 2846 74 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGAATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608915 130608916 130608916 exon 15 0.2380952 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATTCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 106 254 1 0.99985 0.999925 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.04965009 0.95655 0.9530813 NA 0.04684368 NA FALSE NA 0 -0.519 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:130608916 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 synonymous_variant 0.686932 0.1414 0.01358 0.487112 0.6054501 0 3.591687e-45 FALSE 4.06567e-06 ENSE00002336879_012 ENSE00002336879 012 3 130327687 130327856 + 59 63 48 C A 130327760 2847 74 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGTATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608915 130608916 130608916 exon 15 0.2380952 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATACCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 1443 1601 1 0.998899 0.9994495 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.04869906 0.95655 0.9530813 NA 0.04636817 NA FALSE NA 0 -0.519 NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003513286 synonymous_variant 1.431383 0.18365 0.03694 0.487112 0.649732 0 3.591687e-45 FALSE 4.06567e-06 ENSE00002336879_013 ENSE00002336879 013 3 130327687 130327856 + 59 63 48 G A 130327764 2848 78 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCTTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608919 130608920 130608920 exon 19 0.3015873 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAAGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 1706 179 0.9979572 1 0.9989786 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.0419945 0.04980006 0.95655 0.9530813 NA 0.04589728 NA FALSE NA 0.998 4.343 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/28 1 NA AGG G,A 8.27e-06 3:130608920 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 missense_variant 5.498923 0.98001 0.90561 0.487112 0.9986121 0 3.591687e-45 FALSE NA ENSE00002336879_014 ENSE00002336879 014 3 130327687 130327856 + 59 63 48 G A 130327774 2849 88 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTTCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608929 130608930 130608930 exon 29 0.4603175 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGAACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 152 1232 1 0.9686904 0.9843452 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.01849048 0.95655 0.9530813 NA 0.03126388 NA FALSE NA 1 4.343 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/28 1 NA GGA G,A 9.097e-05 3:130608930 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 missense_variant 6.028745 0.98448 0.91132 0.487112 0.9976122 0 3.591687e-45 FALSE 9.35073e-05 ENSE00002336879_015 ENSE00002336879 015 3 130327687 130327856 + 59 63 48 C T 130327776 2850 90 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAATCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608931 130608932 130608932 exon 31 0.4920635 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGATTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 43 509 0.9303264 1 0.9651632 0.9148592 0.9982407 0.9559627 0.9501999 NA NA -0.02563629 0.04980006 0.95655 0.9530813 NA 0.01208189 NA FALSE NA 0.986 1.306 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/28 1 NA ACT C,T 8.271e-06 3:130608932 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 missense_variant 1.939409 0.97306 0.77193 0.487112 0.9921023 0 3.591687e-45 FALSE 4.0658e-06 ENSE00002336879_016 ENSE00002336879 016 3 130327687 130327856 + 59 63 48 T C 130327778 2851 92 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCGAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608933 130608934 130608934 exon -31 0.5238095 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTCGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 58 23 0.9992883 0.9608333 0.9800608 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04332556 0.0106334 0.95655 0.9530813 NA 0.02697948 NA FALSE NA 0.988 -0.014 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/28 1 NA TTG T,C 2.481e-05 3:130608934 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 synonymous_variant 0.045632 0.94521 0.52492 0.487112 0.8047016 0 3.591687e-45 FALSE 1.62627e-05 ENSE00002336879_018 ENSE00002336879 018 3 130327687 130327856 + 59 63 48 C T 130327784 2853 98 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAACCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608939 130608940 130608940 exon -25 0.6190476 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGTTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 503 201 1 0.9753477 0.9876738 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.02514772 0.95655 0.9530813 NA 0.0345925 NA FALSE NA 0.189 -0.858 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/28 1 NA GCT C,T 8.272e-06 3:130608940 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 synonymous_variant 1.43268 0.86355 0.05421 0.487112 0.6502466 0 3.591687e-45 FALSE 4.06679e-06 ENSE00002336879_019 ENSE00002336879 019 3 130327687 130327856 + 59 63 48 C G 130327787 2854 101 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGCGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608942 130608943 130608943 exon -22 0.6666667 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCGCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 175 138 1 0.9627209 0.9813605 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.01252101 0.95655 0.9530813 NA 0.02827914 NA FALSE NA 0 -1.838 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/28 1 NA CCC C,G 4.963e-05 3:130608943 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 synonymous_variant 1.091173 0.11818 0.00774 0.487112 0.6771387 0 3.591687e-45 FALSE 4.4738e-05 ENSE00002336879_023 ENSE00002336879 023 3 130327687 130327856 + 59 63 48 G A 130327820 2858 134 CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTTTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608975 130608976 130608976 downstr_intron 12 1.255319 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAAACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 71 207 1 1 1 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.04980006 0.95655 0.9530813 NA 0.04691867 NA FALSE NA 0 -0.901 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/27 rs560497927 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 AGA G,A 8.277e-06 3:130608976 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 intron_variant 1.173352 0.13074 0.00814 0.061011 0.7164566 0.0448725 3.591687e-45 FALSE 1.22671e-05 ENSE00002336879_024 ENSE00002336879 024 3 130327687 130327856 + 59 63 48 T G 130327834 2859 148 CCAGATTCTTCTTTATGTTCTCCCACCCTGATTGGTCTTGATATGTACCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCCTGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 130608989 130608990 130608990 downstr_intron 26 1.553191 GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGGGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG mutant NA NA NA NA NA 115 520 1 0.9997801 0.9998901 0.9148592 0.9982407 0.9559627 0.9501999 NA NA 0.04403727 0.0495802 0.95655 0.9530813 NA 0.04680874 NA FALSE NA 0 0.004 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 14/27 1 NA GTG T,G 1.655e-05 3:130608990 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003513286 intron_variant 0.70267 0.15295 0.03731 0.061011 0.8230142 0.0455939 3.591687e-45 FALSE 2.10682e-05 ENSE00002336879_BRK ENSE00002336879 BRK 3 130327687 130327856 + 59 63 48 A,G; T,T NA NA NA CCAGATTCTTCTTTATGTTCTCACACCCTGATTGGTCTTGATATGTGGCTGAGGGCCCTTAAGTCCCAGGGAGCCTTCAAGTCCATCTGGTCCTGGGATGCCTGCTGTTCCAAGTGGCGAGAAAGAATCAATCTGTTAACACTGTTTCCTGAACATTTTGTCTCCTTTAC 130608842 130609012 NA NA NA NA NA NA GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACTTGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGCCACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG GTAAAGGAGACAAAATGTTCAGGAAACAGTGTTAACAGATTGATTCTTTCTCGCCACAGGGAACAGCAGGCATCCCAGGACCAGATGGACTTGAAGGCTCCCTGGGACTTAAGGGCCCTCAGGTACATATCAAGACCAATCAGGGTGTGAGAACATAAAGAAGAATCTGG control 204 66 0 0 0 401 138 0 0 0 0.9148592 0.9982407 0.9559627 0.9501999 -0.9148592 -0.9982407 -0.9559627 -0.9501999 0.95655 0.9530813 -0.95655 -0.9530813 0.003468629 TRUE TRUE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003513286 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002337228_000 ENSE00002337228 000 3 119458048 119458217 + 54 72 44 NA NA NA NA NA ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 NA NA NA NA NA NA ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT natural 52 45 0.9835471 0.9949821 0.9892646 3588 1921 0.8862987 0.9971203 0.9417095 0.9835471 0.9949821 0.8862987 0.9971203 0 0 0 0 0.9892646 0.9417095 0 0 0 FALSE FALSE NA NA NA NA NA MAATS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAATS1 NA NA NA ENSG00000183833 ENSE00003582870 NA NA NA NA NA NA NA 9.77749e-10 FALSE NA ENSE00002337228_001 ENSE00002337228 001 3 119458048 119458217 + 54 72 44 A G 119458072 2352 25 ATGCTTGGACTACTGCAGTTCTCAGGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739224 119739225 119739225 upstr_intron -30 -0.537037 ATGCTTGGACTACTGCAGTTCTCAGGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 233 149 1 1 1 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1137013 0.002879714 0.9892646 0.9417095 NA 0.05829052 NA FALSE NA 0 0.169 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 11/17 1 NA AAG A,G 8.236e-06 3:119739225 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 intron_variant 2.117007 0.23311 0.08971 0.053691 0.8354384 0.139115 9.77749e-10 FALSE 4.06237e-06 ENSE00002337228_004 ENSE00002337228 004 3 119458048 119458217 + 54 72 44 C T 119458088 2355 41 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCTTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739240 119739241 119739241 upstr_intron -14 -0.2407407 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCTTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 352 1479 0.9903612 1 0.9951806 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1040625 0.002879714 0.9892646 0.9417095 NA 0.05347111 NA FALSE NA 0.22 0.543 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 11/17 rs370993987 1 NA T:0.0009 T:0 CCT C,T 3.295e-05 3:119739241 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 intron_variant 2.908869 0.92528 0.35201 0.053691 0.8493811 0.245724 9.77749e-10 FALSE 2.03113e-05 ENSE00002337228_005 ENSE00002337228 005 3 119458048 119458217 + 54 72 44 T C 119458091 2356 44 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTCGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739243 119739244 119739244 upstr_intron -11 -0.1851852 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTCGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 2351 84 0.8029432 0.8 0.8014716 0.9835471 0.9949821 0.8862987 0.9971203 NA NA -0.08335549 -0.1971203 0.9892646 0.9417095 NA -0.1402379 NA FALSE NA 1 3.541 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 11/17 1 NA TTG T,C 8.236e-06 3:119739244 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 intron_variant 2.983553 0.99104 0.98224 0.053691 0.9188871 0.956417 9.77749e-10 FALSE 8.12367e-06 ENSE00002337228_007 ENSE00002337228 007 3 119458048 119458217 + 54 72 44 T C 119458099 2358 52 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTCAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739251 119739252 119739252 upstr_intron -3 -0.03703704 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTCAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 52 912 0.9422851 0.9998265 0.9710558 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.05598641 0.002706262 0.9892646 0.9417095 NA 0.02934634 NA FALSE NA 0.027 -0.655 . splice_region_variant&intron_variant&NMD_transcript_variant LOW MAATS1 HGNC 24010 ENST00000482927 11/17 1 NA TTA T,C 8.236e-06 3:119739252 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 splice_region_variant 1.380962 0.90816 0.05466 0.053691 0.83035 0.329075 9.77749e-10 FALSE 4.06204e-06 ENSE00002337228_008 ENSE00002337228 008 3 119458048 119458217 + 54 72 44 G C 119458111 2359 64 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAACAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739263 119739264 119739264 exon 10 0.1388889 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAACAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 35 1124 0.885317 0.9602876 0.9228023 0.9835471 0.9949821 0.8862987 0.9971203 NA NA -0.0009816581 -0.03683271 0.9892646 0.9417095 NA -0.01890718 NA FALSE NA 1 6.434 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/18 COSM279395 1 NA AGA G,C 3.295e-05 3:119739264 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 missense_variant 3.524149 0.99398 0.98471 0.638212 0.9966739 0 9.77749e-10 FALSE 3.2495e-05 ENSE00002337228_009 ENSE00002337228 009 3 119458048 119458217 + 54 72 44 A C 119458114 2360 67 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAACTGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739266 119739267 119739267 exon 13 0.1805556 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAACTGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 112 877 0.9958696 0.9998697 0.9978696 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1095709 0.002749425 0.9892646 0.9417095 NA 0.05616015 NA FALSE NA 0.036 1.883 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/18 1 NA AAT A,C 8.236e-06 3:119739267 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 missense_variant 1.822153 0.70422 0.27443 0.638212 0.9137128 0 9.77749e-10 FALSE 8.12348e-06 ENSE00002337228_011 ENSE00002337228 011 3 119458048 119458217 + 54 72 44 C T 119458150 2362 103 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCTGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739302 119739303 119739303 exon -24 0.6805556 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCTGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 644 33 0.8535835 0.9426333 0.8981084 0.9835471 0.9949821 0.8862987 0.9971203 NA NA -0.03271521 -0.05448695 0.9892646 0.9417095 NA -0.04360108 NA FALSE NA 1 5.09 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/18 COSM1246819 1 NA CCG C,T 1.647e-05 3:119739303 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 missense_variant 8.186772 0.99121 0.96561 0.553676 0.99927 0 9.77749e-10 FALSE 3.24918e-05 ENSE00002337228_014 ENSE00002337228 014 3 119458048 119458217 + 54 72 44 G A 119458157 2365 110 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAAAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739309 119739310 119739310 exon -17 0.7777778 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAAAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 47 211 1 1 1 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1137013 0.002879714 0.9892646 0.9417095 NA 0.05829052 NA FALSE NA 1 6.434 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/18 1 NA AGA G,A 8.236e-06 3:119739310 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 missense_variant 6.565773 0.99141 0.97613 0.638212 0.9960128 0 9.77749e-10 FALSE 8.12295e-06 ENSE00002337228_016 ENSE00002337228 016 3 119458048 119458217 + 54 72 44 C T 119458161 2367 114 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTTGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739313 119739314 119739314 exon -13 0.8333333 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTTGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 710 644 0.9878994 0.9885386 0.988219 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1016007 -0.008581714 0.9892646 0.9417095 NA 0.04650949 NA FALSE NA 0 -1.146 rs141207062 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/18 rs141207062 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 TCG C,T 4.942e-05 3:119739314 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 synonymous_variant 2.101798 0.19588 0.01547 0.638212 0.8170812 0 9.77749e-10 FALSE 4.87385e-05 ENSE00002337228_018 ENSE00002337228 018 3 119458048 119458217 + 54 72 44 A G 119458171 2369 124 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACGTGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739323 119739324 119739324 exon -3 0.9722222 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACGTGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 752 871 1 0.9041389 0.9520695 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1137013 -0.09298136 0.9892646 0.9417095 NA 0.01035998 NA FALSE NA 1 2.694 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW MAATS1 HGNC 24010 ENST00000482927 12/18 rs202213372 1 NA CAT A,G 1.647e-05 3:119739324 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 missense_variant 0.888845 0.97696 0.8989 0.638212 0.8129727 0 9.77749e-10 FALSE 1.21864e-05 ENSE00002337228_020 ENSE00002337228 020 3 119458048 119458217 + 54 72 44 C G 119458185 2371 138 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCGAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739337 119739338 119739338 downstr_intron 12 1.27907 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCGAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 581 131 0.9964154 1 0.9982077 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1101168 0.002879714 0.9892646 0.9417095 NA 0.05649824 NA FALSE NA 0.008 0.288 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/17 1 NA CCA C,G 8.236e-06 3:119739338 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 non_coding_transcript_exon_variant 0.367022 0.22773 0.08341 0.053691 0.6479247 0.052759 9.77749e-10 FALSE 8.12711e-06 ENSE00002337228_021 ENSE00002337228 021 3 119458048 119458217 + 54 72 44 C T 119458188 2372 141 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAATCGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739340 119739341 119739341 downstr_intron 15 1.348837 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAATCGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 801 721 0.9962516 0.999561 0.9979063 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.109953 0.002440758 0.9892646 0.9417095 NA 0.05619686 NA FALSE NA 0 0.182 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/17 1 NA ACC C,T 8.236e-06 3:119739341 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 non_coding_transcript_exon_variant 0.158185 0.19843 0.06559 0.053691 0.6777553 0.0447689 9.77749e-10 FALSE 4.06461e-06 ENSE00002337228_022 ENSE00002337228 022 3 119458048 119458217 + 54 72 44 C T 119458189 2373 142 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACTGCTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739341 119739342 119739342 downstr_intron 16 1.372093 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACTGCTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 840 511 0.9952224 1 0.9976112 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1089237 0.002879714 0.9892646 0.9417095 NA 0.0559017 NA FALSE NA 0 -0.341 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/17 rs528092293 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 2.471e-05 3:119739342 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 non_coding_transcript_exon_variant -0.25909 0.1701 0.03051 0.053691 0.7916595 0.0447689 9.77749e-10 FALSE 4.471e-05 ENSE00002337228_023 ENSE00002337228 023 3 119458048 119458217 + 54 72 44 G A 119458190 2374 143 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCACTGGCCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739342 119739343 119739343 downstr_intron 17 1.395349 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCACTGGCCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 151 226 1 0.997085 0.9985425 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1137013 -3.533175e-05 0.9892646 0.9417095 NA 0.056833 NA FALSE NA 0 -0.969 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/17 1 NA CGC G,A 8.236e-06 3:119739343 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 non_coding_transcript_exon_variant -0.183055 0.11502 0.00381 0.053691 0.783316 0.0447689 9.77749e-10 FALSE 8.13716e-06 ENSE00002337228_026 ENSE00002337228 026 3 119458048 119458217 + 54 72 44 C T 119458195 2377 148 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGTCCTGCATTTCTCTTTTGAGAAT 119739200 119739370 119739347 119739348 119739348 downstr_intron 22 1.511628 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGTCCTGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 128 71 1 0.9597057 0.9798528 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1137013 -0.03741463 0.9892646 0.9417095 NA 0.03814335 NA FALSE NA 0.004 0.244 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/17 1 NA GCC C,T 3.295e-05 3:119739348 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 non_coding_transcript_exon_variant 0.682559 0.18195 0.06746 0.053691 0.7743947 0.0447689 9.77749e-10 FALSE 3.6613e-05 ENSE00002337228_027 ENSE00002337228 027 3 119458048 119458217 + 54 72 44 T G 119458198 2378 151 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCGGCATTTCTCTTTTGAGAAT 119739200 119739370 119739350 119739351 119739351 downstr_intron 25 1.581395 ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCGGCATTTCTCTTTTGAGAAT ATGCTTGGACTACTGCAGTTCTCAAGCTGCTTGGTTCTCCCTTTGTTCTTTTAGGAAGAAGAAGAAATGGAAATGGCTGTGATCTACCTTCAAAAGTTACTCCGGGGCAGAGTCGTTCAGAACATGGTGTGTAGGTCCAACCGCTGGCCCTGCATTTCTCTTTTGAGAAT mutant NA NA NA NA NA 267 309 1 1 1 0.9835471 0.9949821 0.8862987 0.9971203 NA NA 0.1137013 0.002879714 0.9892646 0.9417095 NA 0.05829052 NA FALSE NA 0 0.627 . intron_variant&NMD_transcript_variant MODIFIER MAATS1 HGNC 24010 ENST00000482927 12/17 1 NA CTG T,G 1.647e-05 3:119739351 MAATS1 HGNC Symbol protein_coding 64080 ENSG00000183833 ENSE00003582870 non_coding_transcript_exon_variant 0.680521 0.19952 0.19141 0.053691 0.7302682 0.0454891 9.77749e-10 FALSE 8.14511e-06 ENSE00002337284_000 ENSE00002337284 000 17 19449692 19449861 + 56 69 45 NA NA NA NA NA TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT 19546378 19546548 NA NA NA NA NA NA TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT natural NA NA NA NA NA 1583 1035 0.6625132 0.8389733 0.7507432 NA NA 0.6625132 0.8389733 NA NA 0 0 NA 0.7507432 NA 0 NA FALSE NA NA NA NA NA NA SLC47A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC47A1 NA NA NA ENSG00000142494 ENSE00003620413 NA NA NA NA NA NA NA 1.215822e-09 FALSE NA ENSE00002337284_002 ENSE00002337284 002 17 19449692 19449861 + 56 69 45 A G 19449718 1024 27 TTGTCTTCCTTTCCTCCTTTAACTCTGTAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT 19546378 19546548 19546404 19546405 19546405 upstr_intron -30 -0.5178571 TTGTCTTCCTTTCCTCCTTTAACTCTGTAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT mutant 10 15 0 0 0 344 33 0.03464229 0.0155472 0.02509474 NA NA 0.6625132 0.8389733 NA NA -0.6278709 -0.8234261 NA 0.7507432 NA -0.7256485 NA TRUE NA 0 -2.79 . intron_variant MODIFIER SLC47A1 HGNC 25588 ENST00000436810 2/14 1 NA TAT A,G 4.942e-05 17:19546405 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003620413 intron_variant -0.064378 0.1126 0.00355 0.078448 0.3426169 0.109133 1.215822e-09 FALSE 3.27939e-05 ENSE00002337284_005 ENSE00002337284 005 17 19449692 19449861 + 56 69 45 T C 19449732 1027 41 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTCTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT 19546378 19546548 19546418 19546419 19546419 upstr_intron -16 -0.2678571 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTCTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT mutant NA NA NA NA NA 80 185 0.8 0.8013652 0.8006826 NA NA 0.6625132 0.8389733 NA NA 0.1374868 -0.03760807 NA 0.7507432 NA 0.04993938 NA FALSE NA 0 -0.912 . intron_variant MODIFIER SLC47A1 HGNC 25588 ENST00000436810 2/14 1 NA TTT T,C 3.295e-05 17:19546419 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003620413 intron_variant -0.082883 0.24572 0.04817 0.053691 0.6429073 0.132993 1.215822e-09 FALSE 4.07392e-05 ENSE00002337284_006 ENSE00002337284 006 17 19449692 19449861 + 56 69 45 T G 19449741 1028 50 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTAGTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT 19546378 19546548 19546427 19546428 19546428 upstr_intron -7 -0.1071429 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTAGTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT mutant NA NA NA NA NA 264 449 0.09102603 0 0.04551301 NA NA 0.6625132 0.8389733 NA NA -0.5714871 -0.8389733 NA 0.7507432 NA -0.7052302 NA TRUE NA 0 -0.03 . intron_variant MODIFIER SLC47A1 HGNC 25588 ENST00000436810 2/14 1 NA ATT T,G 8.236e-06 17:19546428 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003620413 splice_region_variant -0.198673 0.30919 0.10726 0.053691 0.5650651 0.201638 1.215822e-09 FALSE 8.1367e-06 ENSE00002337284_010 ENSE00002337284 010 17 19449692 19449861 + 56 69 45 G T 19449748 1032 57 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGTTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT 19546378 19546548 19546434 19546435 19546435 exon 1 0.01449275 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGTTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT mutant NA NA NA NA NA 257 485 0.01836914 0.001321617 0.009845379 NA NA 0.6625132 0.8389733 NA NA -0.644144 -0.8376516 NA 0.7507432 NA -0.7408978 NA TRUE NA 1 3.242 NA NA NA SLC47A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:19546435 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003620413 missense_variant 0.113593 0.98059 0.95542 0.638212 0.4039527 0 1.215822e-09 FALSE 1.62658e-05 ENSE00002337284_017 ENSE00002337284 017 17 19449692 19449861 + 56 69 45 T C 19449787 1039 96 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTACCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT 19546378 19546548 19546473 19546474 19546474 exon -30 0.5797101 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTACCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT mutant NA NA NA NA NA 237 203 0.8 0.8920361 0.846018 NA NA 0.6625132 0.8389733 NA NA 0.1374868 0.05306282 NA 0.7507432 NA 0.09527482 NA FALSE NA 0.363 0.077 . intron_variant MODIFIER SLC47A1 HGNC 25588 ENST00000436810 2/14 COSM3988838 1 NA ATC T,C 8.236e-06 17:19546474 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003620413 missense_variant 5.023869 0.96508 0.33065 0.638212 0.9979139 0 1.215822e-09 FALSE 8.12942e-06 ENSE00002337284_021 ENSE00002337284 021 17 19449692 19449861 + 56 69 45 G A 19449837 1043 146 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACACTCACAGTGACCTCAAACATCTTT 19546378 19546548 19546523 19546524 19546524 downstr_intron 21 1.477273 TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACACTCACAGTGACCTCAAACATCTTT TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT mutant NA NA NA NA NA 493 94 0.754077 0.8 0.7770385 NA NA 0.6625132 0.8389733 NA NA 0.09156379 -0.03897326 NA 0.7507432 NA 0.02629527 NA FALSE NA 0 0.253 . intron_variant MODIFIER SLC47A1 HGNC 25588 ENST00000436810 2/14 1 NA CGC G,A 4.118e-05 17:19546524 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003620413 intron_variant 0.032781 0.17539 0.01727 0.053691 0.7080175 0.123771 1.215822e-09 FALSE NA ENSE00002337284_BRK ENSE00002337284 BRK 17 19449692 19449861 + 56 69 45 A,G; T,T NA NA NA TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCTTGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGCCAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT 19546378 19546548 NA NA NA NA NA NA TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCTTGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGCCAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT TTGTCTTCCTTTCCTCCTTTAACTCTATAGGGCCTTATCTTTGGGTTTATTTGCAGGTTATCAATGTCACTGGTGTCTCAGTGGGATTCGGCTTATCTTCTGCCTGTGACACCCTCATCTCCCAGGTAAATGGAAGTGGTCACACGCTCACAGTGACCTCAAACATCTTT control 29 87 0 0 0 62 77 0 0 0 NA NA 0.6625132 0.8389733 NA NA -0.6625132 -0.8389733 NA 0.7507432 NA -0.7507432 NA TRUE NA NA NA NA NA NA SLC47A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC47A1 NA NA NA ENSG00000142494 ENSE00003620413 NA NA NA NA NA NA NA 1.215822e-09 FALSE NA ENSE00002337438_000 ENSE00002337438 000 2 238256930 238257099 - 62 36 72 NA NA NA NA NA TTTCAAGGTCAATTTATTTTAGATGAATTTAAATTAGAACCAAGTATTAAATAATCTATTTTTCCTTTATAGGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGTAAATAATCCCTGGTCGGTGAAGCATCATCATGATTTTGGGATGGCTCTGGTATGTCCATG 237348286 237348456 NA NA NA NA NA NA TTTCAAGGTCAATTTATTTTAGATGAATTTAAATTAGAACCAAGTATTAAATAATCTATTTTTCCTTTATAGGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGTAAATAATCCCTGGTCGGTGAAGCATCATCATGATTTTGGGATGGCTCTGGTATGTCCATG TTTCAAGGTCAATTTATTTTAGATGAATTTAAATTAGAACCAAGTATTAAATAATCTATTTTTCCTTTATAGGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGTAAATAATCCCTGGTCGGTGAAGCATCATCATGATTTTGGGATGGCTCTGGTATGTCCATG natural NA NA NA NA NA 1453 1484 1 0.9955131 0.9977566 NA NA 1 0.9955131 NA NA 0 0 NA 0.9977566 NA 0 NA FALSE NA NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003553577 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002337438_011 ENSE00002337438 011 2 238256930 238257099 - 62 36 72 T C 238257001 5599 99 TTTCAAGGTCAATTTATTTTAGATGAATTTAAATTAGAACCAAGTATTAAATAATCTATTTTTCCTTTATAGGGAGAAAGAGGATTCCCTGGATACCCGGGACCAAAGGTAAATAATCCCTGGTCGGTGAAGCATCATCATGATTTTGGGATGGCTCTGGTATGTCCATG 237348286 237348456 237348357 237348358 237348358 exon -10 0.75 TTTCAAGGTCAATTTATTTTAGATGAATTTAAATTAGAACCAAGTATTAAATAATCTATTTTTCCTTTATAGGGAGAAAGAGGATTCCCTGGATACCCGGGACCAAAGGTAAATAATCCCTGGTCGGTGAAGCATCATCATGATTTTGGGATGGCTCTGGTATGTCCATG TTTCAAGGTCAATTTATTTTAGATGAATTTAAATTAGAACCAAGTATTAAATAATCTATTTTTCCTTTATAGGGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAGGTAAATAATCCCTGGTCGGTGAAGCATCATCATGATTTTGGGATGGCTCTGGTATGTCCATG mutant NA NA NA NA NA 143 37 0.9973808 1 0.9986904 NA NA 1 0.9955131 NA NA -0.002619232 0.00448687 NA 0.9977566 NA 0.0009338192 NA FALSE NA 0.984 0.06 . synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 29/43 COSM4128231 1 NA CTG T,C 8.236e-06 2:237348358 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003553577 synonymous_variant 0.442222 0.91536 0.76495 0.615465 0.6811173 0 7.793308e-11 FALSE 4.06091e-06 ENSE00002337475_000 ENSE00002337475 000 17 19454669 19454838 + 68 45 57 NA NA NA NA NA GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 NA NA NA NA NA NA GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG natural 309 561 0.853477 0.8534453 0.8534611 750 1218 0.8686833 0.7111447 0.789914 0.853477 0.8534453 0.8686833 0.7111447 0 0 0 0 0.8534611 0.789914 0 0 0 FALSE FALSE NA NA NA NA NA SLC47A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC47A1 NA NA NA ENSG00000142494 ENSE00003561496 NA NA NA NA NA NA NA 1.215822e-09 FALSE NA ENSE00002337475_003 ENSE00002337475 003 17 19454669 19454838 + 68 45 57 T C 19454713 1046 45 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACACTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551399 19551400 19551400 upstr_intron -24 -0.3382353 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACACTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 60 83 0.8408102 0.85 0.8454051 NA NA NA NA NA 0.853477 0.8534453 0.8686833 0.7111447 -0.01266679 -0.003445271 NA NA 0.8534611 0.789914 -0.008056029 NA NA NA FALSE 0 0.119 . upstream_gene_variant MODIFIER SLC47A1 HGNC 25588 ENST00000575377 rs373983807 1 NA C:0.0002 C:0 ATT T,C 8.237e-06 17:19551400 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 intron_variant -0.169484 0.19271 0.01672 0.078448 0.5912852 0.0982482 1.215822e-09 FALSE 4.06161e-06 ENSE00002337475_004 ENSE00002337475 004 17 19454669 19454838 + 68 45 57 C A 19454715 1047 47 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTAATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551401 19551402 19551402 upstr_intron -22 -0.3088235 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTAATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 16 15 0.85 0.85 0.85 NA NA NA NA NA 0.853477 0.8534453 0.8686833 0.7111447 -0.003476971 -0.003445271 NA NA 0.8534611 0.789914 -0.003461121 NA NA NA FALSE 0 -0.694 . upstream_gene_variant MODIFIER SLC47A1 HGNC 25588 ENST00000575377 1 NA TCA C,A 8.237e-06 17:19551402 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 intron_variant 0.224542 0.22217 0.07171 0.078448 0.72138 0.153206 1.215822e-09 FALSE 8.12295e-06 ENSE00002337475_006 ENSE00002337475 006 17 19454669 19454838 + 68 45 57 C G 19454720 1049 52 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTGTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551406 19551407 19551407 upstr_intron -17 -0.2352941 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTGTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 11 53 0 0 0 2095 275 0.007706145 0.001841011 0.004773578 0.853477 0.8534453 0.8686833 0.7111447 -0.853477 -0.8534453 -0.8609772 -0.7093037 0.8534611 0.789914 -0.8534611 -0.7851404 0.06832068 TRUE TRUE 0.088 0.936 . upstream_gene_variant MODIFIER SLC47A1 HGNC 25588 ENST00000575377 1 NA TCT C,G 1.647e-05 17:19551407 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 intron_variant 0.353553 0.24934 0.03115 0.078448 0.6278385 0.151766 1.215822e-09 FALSE 8.12255e-06 ENSE00002337475_007 ENSE00002337475 007 17 19454669 19454838 + 68 45 57 G C 19454725 1050 57 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTCTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551411 19551412 19551412 upstr_intron -12 -0.1617647 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTCTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 77 96 0.85 0.85 0.85 NA NA NA NA NA 0.853477 0.8534453 0.8686833 0.7111447 -0.003476971 -0.003445271 NA NA 0.8534611 0.789914 -0.003461121 NA NA NA FALSE 0 -1.619 NA NA NA SLC47A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:19551412 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 intron_variant -0.13484 0.22804 0.05702 0.078448 0.6923037 0.159228 1.215822e-09 FALSE 0.185212 ENSE00002337475_009 ENSE00002337475 009 17 19454669 19454838 + 68 45 57 C T 19454728 1052 60 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTTTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551414 19551415 19551415 upstr_intron -9 -0.1176471 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTTTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 63 75 0.85 0.932924 0.891462 NA NA NA NA NA 0.853477 0.8534453 0.8686833 0.7111447 -0.003476971 0.07947873 NA NA 0.8534611 0.789914 0.03800088 NA NA NA FALSE 0.922 0.106 rs8076893 upstream_gene_variant MODIFIER SLC47A1 HGNC 25588 ENST00000575377 rs8076893 1 T:0.0122 T:0.0439 T:0.0043 NA T:0 T:0 T:0 T:0.0345 T:0.0001 TCT C,T 0.003039 17:19551415 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 intron_variant 0.868157 0.35337 0.19607 0.078448 0.5864688 0.276483 1.215822e-09 FALSE 0.00224572 ENSE00002337475_012 ENSE00002337475 012 17 19454669 19454838 + 68 45 57 G C 19454733 1055 65 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTCTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551419 19551420 19551420 upstr_intron -4 -0.04411765 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTCTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 17 16 0.85 0.85 0.85 NA NA NA NA NA 0.853477 0.8534453 0.8686833 0.7111447 -0.003476971 -0.003445271 NA NA 0.8534611 0.789914 -0.003461121 NA NA NA FALSE 0 -1.738 NA NA NA SLC47A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:19551420 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 splice_region_variant 0.202538 0.23498 0.04991 0.078448 0.5748781 0.271625 1.215822e-09 FALSE 4.06468e-06 ENSE00002337475_016 ENSE00002337475 016 17 19454669 19454838 + 68 45 57 A G 19454752 1059 84 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATGTGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551438 19551439 19551439 exon 16 0.3555556 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATGTGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 31 52 0.8321136 0.85 0.8410568 NA NA NA NA NA 0.853477 0.8534453 0.8686833 0.7111447 -0.02136334 -0.003445271 NA NA 0.8534611 0.789914 -0.01240431 NA NA NA FALSE 0 0.093 . upstream_gene_variant MODIFIER SLC47A1 HGNC 25588 ENST00000575377 1 NA TAT A,G 1.647e-05 17:19551439 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 missense_variant -2.047102 0.22764 0.05713 0.615465 0.6419851 0 1.215822e-09 FALSE 1.21837e-05 ENSE00002337475_018 ENSE00002337475 018 17 19454669 19454838 + 68 45 57 C T 19454773 1061 105 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGTTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551459 19551460 19551460 exon -9 0.8222222 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGTTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 30 19 0.04314558 0 0.02157279 NA NA NA NA NA 0.853477 0.8534453 0.8686833 0.7111447 -0.8103314 -0.8534453 NA NA 0.8534611 0.789914 -0.8318883 NA NA NA TRUE 1 5.261 . upstream_gene_variant MODIFIER SLC47A1 HGNC 25588 ENST00000575377 1 NA GCT C,T 8.237e-06 17:19551460 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 missense_variant 6.446306 0.96217 0.88344 0.615465 0.998718 0 1.215822e-09 FALSE 4.06108e-06 ENSE00002337475_021 ENSE00002337475 021 17 19454669 19454838 + 68 45 57 T C 19454806 1064 138 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTCGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG 19551355 19551525 19551492 19551493 19551493 downstr_intron 25 1.446429 GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTCGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG GCCGTGTGACCTCACTTCTGTGTGGCAAGGCTGAAACATTAACATTCATCTCTCTTGTTCTCTTGTAGGCAACCTTTCTTTATATGTTACAAGTTAAATATTTGCTCAACCAGGTAATACTGACTGTTCTCTTCCTTTGGGAGGCTAATGGGAGTTTGTACCTTTCTGGG mutant 29 143 0.85 0.85 0.85 NA NA NA NA NA 0.853477 0.8534453 0.8686833 0.7111447 -0.003476971 -0.003445271 NA NA 0.8534611 0.789914 -0.003461121 NA NA NA FALSE 0 -0.043 . upstream_gene_variant MODIFIER SLC47A1 HGNC 25588 ENST00000575377 1 NA TTG T,C 8.237e-06 17:19551493 SLC47A1 HGNC Symbol protein_coding 83649 ENSG00000142494 ENSE00003561496 intron_variant -0.168035 0.2189 0.05479 0.078448 0.6824696 0.11866 1.215822e-09 FALSE 4.06204e-06 ENSE00002337775_000 ENSE00002337775 000 2 71185135 71185304 + 41 99 30 NA NA NA NA NA TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 NA NA NA NA NA NA TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT natural 64 41 0.8507395 0.9857084 0.918224 1353 2237 0.841943 0.7692294 0.8055862 0.8507395 0.9857084 0.841943 0.7692294 0 0 0 0 0.918224 0.8055862 0 0 0 FALSE FALSE NA NA NA NA NA AC007040.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC007040.2 NA NA NA ENSG00000258881 ENSE00003476362 NA NA NA NA NA NA NA NA NA NA ENSE00002337775_BRK ENSE00002337775 BRK 2 71185135 71185304 + 41 99 30 A,G; T,T NA NA NA TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCTTTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGCCGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 NA NA NA NA NA NA TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCTTTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGCCGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT control 37 15 0 0 0 NA NA NA NA NA 0.8507395 0.9857084 0.841943 0.7692294 -0.8507395 -0.9857084 NA NA 0.918224 0.8055862 -0.918224 NA NA NA TRUE NA NA NA NA NA AC007040.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC007040.2 NA NA NA ENSG00000258881 ENSE00003476362 NA NA NA NA NA NA NA NA NA NA ENSE00002337841_000 ENSE00002337841 000 12 118682655 118682824 - 44 72 54 NA NA NA NA NA AACTTGTTTATTTCAGTTTAGGTATACAACTGTCTCTATCTCACCTCATGGGTCTGCTTCCCACTATAGGACATCTTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 NA NA NA NA NA NA ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT natural 35 76 0.9066737 0.951448 0.9290608 4202 5019 0.9400767 0.806099 0.8730879 0.9066737 0.951448 0.9400767 0.806099 0 0 0 0 0.9290608 0.8730879 0 0 0 FALSE FALSE NA NA NA NA NA RPS2P5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAOK3 NA NA NA ENSG00000135090 ENSE00002337841 NA NA NA NA NA NA NA 0.9999776 TRUE NA ENSE00002337841_001 ENSE00002337841 001 12 118682655 118682824 - 44 72 54 G C 118682675 3389 150 AACTTGTTTATTTCAGTTTACGTATACAACTGTCTCTATCTCACCTCATGGGTCTGCTTCCCACTATAGGACATCTTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 118244869 118244870 118244870 downstr_intron 24 1.55814 ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACGTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT mutant NA NA NA NA NA 314 252 1 0.9921782 0.9960891 0.9066737 0.951448 0.9400767 0.806099 NA NA 0.05992325 0.1860791 0.9290608 0.8730879 NA 0.1230012 NA FALSE NA 0 -0.242 . upstream_gene_variant MODIFIER RPS2P5 HGNC 31386 ENST00000488803 1 NA AGG G,C 8.236e-06 12:118244870 TAOK3 HGNC Symbol protein_coding 223144 ENSG00000135090 ENSE00002337841 intron_variant -0.24954 0.22063 0.05761 0.295142 0.5560328 0.100237 0.9999776 TRUE 4.08547e-06 ENSE00002337841_002 ENSE00002337841 002 12 118682655 118682824 - 44 72 54 C G 118682684 3390 141 AACTTGTTTATTTCAGTTTAGGTATACAAGTGTCTCTATCTCACCTCATGGGTCTGCTTCCCACTATAGGACATCTTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 118244878 118244879 118244879 downstr_intron 15 1.348837 ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACACTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT mutant NA NA NA NA NA 1437 230 0.9977879 0.9986437 0.9982158 0.9066737 0.951448 0.9400767 0.806099 NA NA 0.05771117 0.1925446 0.9290608 0.8730879 NA 0.1251279 NA FALSE NA 0 -1.348 . upstream_gene_variant MODIFIER RPS2P5 HGNC 31386 ENST00000488803 1 NA ACT C,G 1.647e-05 12:118244879 TAOK3 HGNC Symbol protein_coding 223144 ENSG00000135090 ENSE00002337841 intron_variant 0.147609 0.25003 0.0195 0.295142 0.5649691 0.0606225 0.9999776 TRUE 8.15162e-06 ENSE00002337841_005 ENSE00002337841 005 12 118682655 118682824 - 44 72 54 T C 118682691 3393 134 AACTTGTTTATTTCAGTTTAGGTATACAACTGTCTCCATCTCACCTCATGGGTCTGCTTCCCACTATAGGACATCTTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 118244885 118244886 118244886 downstr_intron 8 1.186047 ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATGGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT mutant NA NA NA NA NA 608 177 0.978639 1 0.9893195 0.9066737 0.951448 0.9400767 0.806099 NA NA 0.03856223 0.193901 0.9290608 0.8730879 NA 0.1162316 NA FALSE NA 0 0.17 . upstream_gene_variant MODIFIER RPS2P5 HGNC 31386 ENST00000488803 1 NA CTA T,C 8.236e-06 12:118244886 TAOK3 HGNC Symbol protein_coding 223144 ENSG00000135090 ENSE00002337841 splice_region_variant -0.091124 0.19053 0.01938 0.295142 0.5758567 0.0612813 0.9999776 TRUE 4.06928e-06 ENSE00002337841_006 ENSE00002337841 006 12 118682655 118682824 - 44 72 54 T C 118682693 3394 132 AACTTGTTTATTTCAGTTTAGGTATACAACTGTCTCTACCTCACCTCATGGGTCTGCTTCCCACTATAGGACATCTTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 118244887 118244888 118244888 downstr_intron 6 1.139535 ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGGTAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT mutant 32 55 0.8326789 0.85 0.8413394 490 59 0.9782398 0.9701271 0.9741835 0.9066737 0.951448 0.9400767 0.806099 -0.07399481 -0.101448 0.03816305 0.1640281 0.9290608 0.8730879 -0.08772139 0.1010956 0.188817 FALSE FALSE 0.001 -0.015 . upstream_gene_variant MODIFIER RPS2P5 HGNC 31386 ENST00000488803 rs201155311 1 NA ATC T,C 5.765e-05 12:118244888 TAOK3 HGNC Symbol protein_coding 223144 ENSG00000135090 ENSE00002337841 splice_region_variant 0.369437 0.78222 0.09642 0.295142 0.6703139 0.175705 0.9999776 TRUE 0.000134257 ENSE00002337841_007 ENSE00002337841 007 12 118682655 118682824 - 44 72 54 T A 118682703 3395 122 AACTTGTTTATTTCAGTTTAGGTATACAACTGTCTCTATCTCACCTCAAGGGTCTGCTTCCCACTATAGGACATCTTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 118244897 118244898 118244898 exon -5 0.9444444 ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCTTGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT mutant NA NA NA NA NA 1003 1136 0.9997124 0.9939146 0.9968135 0.9066737 0.951448 0.9400767 0.806099 NA NA 0.05963569 0.1878156 0.9290608 0.8730879 NA 0.1237256 NA FALSE NA 1 3.936 . upstream_gene_variant MODIFIER RPS2P5 HGNC 31386 ENST00000488803 1 NA ATG T,A 0.0001977 12:118244898 TAOK3 HGNC Symbol protein_coding 223144 ENSG00000135090 ENSE00002337841 missense_variant 2.474641 0.98769 0.94847 0.706298 0.9557362 0 0.9999776 TRUE 0.000223552 ENSE00002337841_009 ENSE00002337841 009 12 118682655 118682824 - 44 72 54 T C 118682730 3397 95 AACTTGTTTATTTCAGTTTAGGTATACAACTGTCTCTATCTCACCTCATGGGTCTGCTTCCCACTATAGGACATCCTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 118244924 118244925 118244925 exon -32 0.5694444 ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAGGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT mutant NA NA NA NA NA 429 145 0.8356792 0.8466529 0.841166 0.9066737 0.951448 0.9400767 0.806099 NA NA -0.1043976 0.04055384 0.9290608 0.8730879 NA -0.03192187 NA FALSE NA 1 7.722 . upstream_gene_variant MODIFIER RPS2P5 HGNC 31386 ENST00000488803 1 NA CTT T,C 8.237e-06 12:118244925 TAOK3 HGNC Symbol protein_coding 223144 ENSG00000135090 ENSE00002337841 missense_variant 5.592514 0.99375 0.98662 0.706298 0.9988464 0 0.9999776 TRUE 4.06379e-06 ENSE00002337841_010 ENSE00002337841 010 12 118682655 118682824 - 44 72 54 T C 118682737 3398 88 AACTTGTTTATTTCAGTTTAGGTATACAACTGTCTCTATCTCACCTCATGGGTCTGCTTCCCACTATAGGACATCTTCTTAACTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 118244931 118244932 118244932 exon 34 0.4722222 ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAGTTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT mutant NA NA NA NA NA 161 1903 1 0.9659636 0.9829818 0.9066737 0.951448 0.9400767 0.806099 NA NA 0.05992325 0.1598646 0.9290608 0.8730879 NA 0.1098939 NA FALSE NA 0.147 0.535 . upstream_gene_variant MODIFIER RPS2P5 HGNC 31386 ENST00000488803 rs564531727 1 C:0.0006 C:0 C:0 NA C:0 C:0 C:0.0031 ATT T,C 0.0002553 12:118244932 TAOK3 HGNC Symbol protein_coding 223144 ENSG00000135090 ENSE00002337841 missense_variant 1.054192 0.97178 0.3845 0.706298 0.950116 0 0.9999776 TRUE 0.000178824 ENSE00002337841_013 ENSE00002337841 013 12 118682655 118682824 - 44 72 54 G T 118682802 3401 23 AACTTGTTTATTTCAGTTTAGGTATACAACTGTCTCTATCTCACCTCATGGGTCTGCTTCCCACTATAGGACATCTTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCCTGTGTTAAGAGGGTAGAAGAAAAAGAAAAATAATTAGTGATGTTTCAGCCAAT 118244849 118245019 118244996 118244997 118244997 upstr_intron -32 -0.5740741 ATTGGCTGAAACATCACTAATTATTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT mutant NA NA NA NA NA 430 406 0.9999043 1 0.9999521 0.9066737 0.951448 0.9400767 0.806099 NA NA 0.05982751 0.193901 0.9290608 0.8730879 NA 0.1268642 NA FALSE NA 0 -1.851 . upstream_gene_variant MODIFIER RPS2P5 HGNC 31386 ENST00000488803 1 NA AGA G,T 8.236e-06 12:118244997 TAOK3 HGNC Symbol protein_coding 223144 ENSG00000135090 ENSE00002337841 intron_variant 0.083132 0.26677 0.0363 0.053691 0.5843793 0.0606225 0.9999776 TRUE 4.32968e-06 ENSE00002337841_BRK ENSE00002337841 BRK 12 118682655 118682824 - 44 72 54 A,G; T,T NA NA NA AACTTGTTTATTTCAGTTTAGGTATACAACTGTCTCTATCTCGGCTCATGGGTCTGCTTCCCACTATAGGACATCTTCTTAATTGCCACCACCTCACTGGTGTGAGCATTTGTAGCAAGTGTTAAGAGGGTAGAAGAAAAAGAAAAAGAATTAGTGATGTTTCAGCCAAT 118244849 118245019 NA NA NA NA NA NA ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACTTGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGCCGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT ATTGGCTGAAACATCACTAATTCTTTTTCTTTTTCTTCTACCCTCTTAACACAGGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGGTGAGATAGAGACAGTTGTATACCTAAACTGAAATAAACAAGTT control NA NA NA NA NA 854 447 0.008575773 0.0007161713 0.004645972 0.9066737 0.951448 0.9400767 0.806099 NA NA -0.931501 -0.8053829 0.9290608 0.8730879 NA -0.8684419 NA TRUE NA NA NA NA NA NA RPS2P5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TAOK3 NA NA NA ENSG00000135090 ENSE00002337841 NA NA NA NA NA NA NA 0.9999776 TRUE NA ENSE00002338720_000 ENSE00002338720 000 2 238261117 238261286 - 48 63 59 NA NA NA NA NA AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 NA NA NA NA NA NA AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC natural 35 12 0.9986612 1 0.9993306 3201 2782 0.9691337 0.8745204 0.9218271 0.9986612 1 0.9691337 0.8745204 0 0 0 0 0.9993306 0.9218271 0 0 0 FALSE FALSE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003530002 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002338720_001 ENSE00002338720 001 2 238261117 238261286 - 48 63 59 G T 238261139 5645 148 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCATCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352495 237352496 237352496 downstr_intron 26 1.553191 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCATCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 519 1509 0.8655908 0.9972289 0.9314099 0.9986612 1 0.9691337 0.8745204 NA NA -0.1035429 0.1227085 0.9993306 0.9218271 NA 0.009582785 NA FALSE NA 0 -0.199 rs192037415 intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 25/42 rs192037415 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 AGG G,T 8.238e-06 2:237352496 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant 0.149477 0.18184 0.06858 0.06567 0.526936 0.0912496 7.793308e-11 FALSE NA ENSE00002338720_003 ENSE00002338720 003 2 238261117 238261286 - 48 63 59 G C 238261147 5647 140 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATAGCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352503 237352504 237352504 downstr_intron 18 1.382979 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATAGCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 378 410 0.9582134 0.9770056 0.9676095 0.9986612 1 0.9691337 0.8745204 NA NA -0.01092029 0.1024851 0.9993306 0.9218271 NA 0.04578242 NA FALSE NA 0 -0.807 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 25/42 1 NA GGT G,C 8.237e-06 2:237352504 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant -0.17752 0.15924 0.04902 0.06567 0.4494819 0.0901283 7.793308e-11 FALSE 4.23657e-06 ENSE00002338720_005 ENSE00002338720 005 2 238261117 238261286 - 48 63 59 C T 238261156 5649 131 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTATCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352512 237352513 237352513 downstr_intron 9 1.191489 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTATCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 705 672 0.9997826 0.9923932 0.9960879 0.9986612 1 0.9691337 0.8745204 NA NA 0.03064884 0.1178728 0.9993306 0.9218271 NA 0.07426079 NA FALSE NA 0 -2.978 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 25/42 1 NA ACA C,T 8.237e-06 2:237352513 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant 2.146771 0.16623 0.00498 0.06567 0.7947164 0.203534 7.793308e-11 FALSE 4.18207e-06 ENSE00002338720_006 ENSE00002338720 006 2 238261117 238261286 - 48 63 59 C T 238261160 5650 127 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAACCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352516 237352517 237352517 downstr_intron 5 1.106383 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAACCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 425 600 0.0333453 0.00168734 0.01751632 0.9986612 1 0.9691337 0.8745204 NA NA -0.9357884 -0.8728331 0.9993306 0.9218271 NA -0.9043108 NA TRUE NA 0.675 1.483 . splice_region_variant&intron_variant LOW COL6A3 HGNC 2213 ENST00000346358 25/42 1 NA GCT C,T 8.237e-06 2:237352517 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 splice_region_variant 2.4158 0.97818 0.63271 0.078448 0.9300988 0.881502 7.793308e-11 FALSE NA ENSE00002338720_008 ENSE00002338720 008 2 238261117 238261286 - 48 63 59 G A 238261169 5652 118 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACTTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352525 237352526 237352526 exon -5 0.9365079 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACTTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 1170 1314 1 0.9974662 0.9987331 0.9986612 1 0.9691337 0.8745204 NA NA 0.03086627 0.1229457 0.9993306 0.9218271 NA 0.07690601 NA FALSE NA 1 8.333 rs140728855 missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 25/43 rs140728855 1 possibly_damaging(0.773) NA A:0 A:0.0002 AGG G,A 9.06e-05 2:237352526 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 missense_variant 3.009311 0.98475 0.99408 0.615465 0.9552412 0 7.793308e-11 FALSE 0.000103166 ENSE00002338720_009 ENSE00002338720 009 2 238261117 238261286 - 48 63 59 C T 238261188 5653 99 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAAAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352544 237352545 237352545 exon -24 0.6349206 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAAAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 321 928 0.9768812 0.9491718 0.9630265 0.9986612 1 0.9691337 0.8745204 NA NA 0.007747458 0.07465136 0.9993306 0.9218271 NA 0.04119941 NA FALSE NA 1 6.609 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 25/43 1 probably_damaging(0.931) NA TCT C,T 3.295e-05 2:237352545 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 missense_variant 4.533728 0.99468 0.99374 0.615465 0.9960703 0 7.793308e-11 FALSE 2.45505e-05 ENSE00002338720_010 ENSE00002338720 010 2 238261117 238261286 - 48 63 59 C A 238261226 5654 61 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGTCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352582 237352583 237352583 exon 2 0.03174603 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGTCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 116 18 0.960917 1 0.9804585 0.9986612 1 0.9691337 0.8745204 NA NA -0.008216759 0.1254796 0.9993306 0.9218271 NA 0.05863141 NA FALSE NA 1 6.549 . missense_variant&splice_region_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 25/43 1 probably_damaging(0.998) NA GCC C,A 8.236e-06 2:237352583 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 missense_variant 2.878648 0.99499 0.99524 0.554377 0.8195065 0 7.793308e-11 FALSE NA ENSE00002338720_013 ENSE00002338720 013 2 238261117 238261286 - 48 63 59 G A 238261232 5657 55 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCTTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352588 237352589 237352589 upstr_intron -5 -0.06779661 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCTTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 602 946 0.9853341 0.9953632 0.9903487 0.9986612 1 0.9691337 0.8745204 NA NA 0.01620039 0.1208428 0.9993306 0.9218271 NA 0.06852159 NA FALSE NA 0 -0.027 . splice_region_variant&intron_variant LOW COL6A3 HGNC 2213 ENST00000346358 24/42 rs373375855 1 NA A:0.0002 A:0 AGG G,A 8.237e-06 2:237352589 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 splice_region_variant 0.176293 0.20307 0.00531 0.06567 0.4989465 0.229887 7.793308e-11 FALSE 4.0992e-06 ENSE00002338720_014 ENSE00002338720 014 2 238261117 238261286 - 48 63 59 G A 238261237 5658 50 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTTCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352593 237352594 237352594 upstr_intron -10 -0.1525424 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTTCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 201 508 0.9531856 0.9118821 0.9325338 0.9986612 1 0.9691337 0.8745204 NA NA -0.01594815 0.03736164 0.9993306 0.9218271 NA 0.01070675 NA FALSE NA 0 -0.485 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 24/42 1 NA GGA G,A 1.647e-05 2:237352594 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant 0.940167 0.1999 0.03373 0.06567 0.573122 0.257329 7.793308e-11 FALSE 1.23208e-05 ENSE00002338720_015 ENSE00002338720 015 2 238261117 238261286 - 48 63 59 C T 238261245 5659 42 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATAGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352601 237352602 237352602 upstr_intron -18 -0.2881356 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATAGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 312 552 0.9635329 0.9424098 0.9529714 0.9986612 1 0.9691337 0.8745204 NA NA -0.005600804 0.06788941 0.9993306 0.9218271 NA 0.0311443 NA FALSE NA 0.001 1.237 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 24/42 1 NA CCA C,T 8.237e-06 2:237352602 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant 0.576467 0.5278 0.13187 0.06567 0.6485318 0.946219 7.793308e-11 FALSE 4.13131e-06 ENSE00002338720_016 ENSE00002338720 016 2 238261117 238261286 - 48 63 59 G A 238261249 5660 38 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCATGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352605 237352606 237352606 upstr_intron -22 -0.3559322 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCATGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 348 268 0.9984524 1 0.9992262 0.9986612 1 0.9691337 0.8745204 NA NA 0.02931871 0.1254796 0.9993306 0.9218271 NA 0.07739914 NA FALSE NA 0.003 0.062 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 24/42 1 NA CGT G,A 2.471e-05 2:237352606 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant -0.047766 0.21471 0.01293 0.06567 0.3685715 0.155503 7.793308e-11 FALSE 2.49029e-05 ENSE00002338720_017 ENSE00002338720 017 2 238261117 238261286 - 48 63 59 A T 238261252 5661 35 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACACACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352608 237352609 237352609 upstr_intron -25 -0.4067797 AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACACACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 319 335 0.001201094 0.03025647 0.01572878 0.9986612 1 0.9691337 0.8745204 NA NA -0.9679326 -0.844264 0.9993306 0.9218271 NA -0.9060983 NA TRUE NA 0.03 1.508 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 24/42 1 NA GAG A,T 8.237e-06 2:237352609 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant 0.292381 0.56454 0.24636 0.06567 0.7131794 0.915396 7.793308e-11 FALSE 4.18736e-06 ENSE00002338720_019 ENSE00002338720 019 2 238261117 238261286 - 48 63 59 C T 238261256 5663 31 AGAGGCTTCTCATGGAAAGTCACCTCATTAACACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352612 237352613 237352613 upstr_intron -29 -0.4745763 AGAGGCTTCTCATGGAAAGTCACCTCATTAACACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 302 151 1 1 1 0.9986612 1 0.9691337 0.8745204 NA NA 0.03086627 0.1254796 0.9993306 0.9218271 NA 0.07817292 NA FALSE NA 0.001 -0.068 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 24/42 rs201254398 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCT C,T 8.238e-06 2:237352613 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant 0.267974 0.28715 0.01717 0.06567 0.5513655 0.093739 7.793308e-11 FALSE NA ENSE00002338720_020 ENSE00002338720 020 2 238261117 238261286 - 48 63 59 T C 238261275 5664 12 AGAGGCTTCTCGTGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 237352631 237352632 237352632 upstr_intron -48 -0.7966102 AGAGGCTTCTCGTGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC mutant NA NA NA NA NA 535 103 0.9937112 1 0.9968556 0.9986612 1 0.9691337 0.8745204 NA NA 0.02457746 0.1254796 0.9993306 0.9218271 NA 0.07502851 NA FALSE NA 0 -0.713 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 24/42 1 NA ATG T,C 8.243e-06 2:237352632 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003530002 intron_variant -0.017912 0.13112 0.013 0.06567 0.5873477 0.0709753 7.793308e-11 FALSE 4.56379e-06 ENSE00002338720_BRK ENSE00002338720 BRK 2 238261117 238261286 - 48 63 59 A,G; T,T NA NA NA AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCTTGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGCCAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC 237352473 237352643 NA NA NA NA NA NA AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCTTGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGCCAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC AGAGGCTTCTCATGGAAAGTCACCTCATTAGCACTCACGATGGTCTTTTCCTTCCTCAGGGCCCAGCTGGTCCTGCTGGTCCTCCAGGGCTGATAGGAGAACAAGGCATTTCTGGACCTCGGGTAAGCCTGTCCTAATACCAGCCCCCTCTCTAGCTGAACAGAGGGCAC control NA NA NA NA NA 745 642 0.008602137 0.01961805 0.01411009 0.9986612 1 0.9691337 0.8745204 NA NA -0.9605316 -0.8549024 0.9993306 0.9218271 NA -0.907717 NA TRUE NA NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003530002 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002339454_000 ENSE00002339454 000 2 118732731 118732900 - 33 93 44 NA NA NA NA NA TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 NA NA NA NA NA NA TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT natural NA NA NA NA NA 1821 1974 0.8581316 0.9201753 0.8891534 NA NA 0.8581316 0.9201753 NA NA 0 0 NA 0.8891534 NA 0 NA FALSE NA NA NA NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC93 NA NA NA ENSG00000125633 ENSE00003655122 NA NA NA NA NA NA NA 0.06437526 FALSE NA ENSE00002339454_002 ENSE00002339454 002 2 118732731 118732900 - 33 93 44 C G 118732750 2550 151 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATCTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975173 117975174 117975174 downstr_intron 14 1.4375 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATCTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 689 76 0.9994012 1 0.9997006 NA NA 0.8581316 0.9201753 NA NA 0.1412696 0.07982467 NA 0.8891534 NA 0.1105471 NA FALSE NA 0 -0.749 . intron_variant MODIFIER CCDC93 HGNC 25611 ENST00000376300 9/23 1 NA ACA C,G 1.647e-05 2:117975174 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 intron_variant 0.212124 0.2166 0.0725 0.099367 0.5883265 0.0673029 0.06437526 FALSE 8.14624e-06 ENSE00002339454_003 ENSE00002339454 003 2 118732731 118732900 - 33 93 44 A G 118732751 2551 150 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCACGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975174 117975175 117975175 downstr_intron 13 1.40625 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCACGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 2041 424 0.99915 0.9957952 0.9974726 NA NA 0.8581316 0.9201753 NA NA 0.1410185 0.07561987 NA 0.8891534 NA 0.1083192 NA FALSE NA 0 -1.329 rs183483997 intron_variant MODIFIER CCDC93 HGNC 25611 ENST00000376300 9/23 rs183483997 1 G:0.0004 G:0 G:0.0029 NA G:0 G:0 G:0 G:0.0002 G:0 CAT A,G 1.647e-05 2:117975175 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 intron_variant 0.436623 0.12509 0.00821 0.099367 0.5252183 0.0673029 0.06437526 FALSE 2.03565e-05 ENSE00002339454_004 ENSE00002339454 004 2 118732731 118732900 - 33 93 44 G A 118732754 2552 147 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTTCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975177 117975178 117975178 downstr_intron 10 1.3125 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTTCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 756 743 0.9983583 1 0.9991792 NA NA 0.8581316 0.9201753 NA NA 0.1402267 0.07982467 NA 0.8891534 NA 0.1100257 NA FALSE NA 0 0.094 . intron_variant MODIFIER CCDC93 HGNC 25611 ENST00000376300 9/23 1 NA GGA G,A 1.647e-05 2:117975178 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 intron_variant 0.5337 0.17545 0.0857 0.160075 0.7249672 0.0673029 0.06437526 FALSE 1.22137e-05 ENSE00002339454_005 ENSE00002339454 005 2 118732731 118732900 - 33 93 44 A C 118732755 2553 146 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGGCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975178 117975179 117975179 downstr_intron 9 1.28125 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGGCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 224 12 1 1 1 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.07982467 NA 0.8891534 NA 0.1108466 NA FALSE NA 0 -0.118 . intron_variant MODIFIER CCDC93 HGNC 25611 ENST00000376300 9/23 1 NA GAC A,C 1.647e-05 2:117975179 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 intron_variant 0.517035 0.17322 0.04683 0.160075 0.6025734 0.0673029 0.06437526 FALSE 1.22112e-05 ENSE00002339454_006 ENSE00002339454 006 2 118732731 118732900 - 33 93 44 C T 118732791 2554 110 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAAGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975214 117975215 117975215 exon -28 0.7096774 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAAGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 507 335 1 0.9606214 0.9803107 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.04044607 NA 0.8891534 NA 0.09115726 NA FALSE NA 0.899 -0.253 rs188217202 synonymous_variant LOW CCDC93 HGNC 25611 ENST00000376300 9/24 rs188217202 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCT C,T 5.765e-05 2:117975215 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 synonymous_variant 1.861375 0.86961 0.47365 0.706548 0.4590674 0 0.06437526 FALSE 6.09598e-05 ENSE00002339454_007 ENSE00002339454 007 2 118732731 118732900 - 33 93 44 G A 118732794 2555 107 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCATGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975217 117975218 117975218 exon -31 0.6774194 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCATGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 263 291 0.9994168 0.9758849 0.9876509 NA NA 0.8581316 0.9201753 NA NA 0.1412853 0.05570958 NA 0.8891534 NA 0.09849742 NA FALSE NA 0.001 -1.914 . synonymous_variant LOW CCDC93 HGNC 25611 ENST00000376300 9/24 rs529842108 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 4.119e-05 2:117975218 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 synonymous_variant 1.050253 0.09559 0.00799 0.719381 0.6344011 0 0.06437526 FALSE 2.84539e-05 ENSE00002339454_008 ENSE00002339454 008 2 118732731 118732900 - 33 93 44 T C 118732809 2556 92 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAGAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975232 117975233 117975233 exon -46 0.516129 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAGAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 900 150 1 0.9978854 0.9989427 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.07771008 NA 0.8891534 NA 0.1097893 NA FALSE NA 0.965 -0.023 . synonymous_variant LOW CCDC93 HGNC 25611 ENST00000376300 9/24 rs374409378 1 NA C:0.0002 C:0 TTT T,C 8.236e-06 2:117975233 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 synonymous_variant 0.048685 0.94588 0.63829 0.719381 0.6348997 0 0.06437526 FALSE 2.84546e-05 ENSE00002339454_009 ENSE00002339454 009 2 118732731 118732900 - 33 93 44 T C 118732812 2557 89 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACGGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975235 117975236 117975236 exon 45 0.483871 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACGGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 1372 161 0.9982167 1 0.9991084 NA NA 0.8581316 0.9201753 NA NA 0.1400852 0.07982467 NA 0.8891534 NA 0.1099549 NA FALSE NA 1 1.055 . synonymous_variant LOW CCDC93 HGNC 25611 ENST00000376300 9/24 rs201777038 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTG T,C 8.236e-06 2:117975236 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 synonymous_variant 0.332195 0.97033 0.88086 0.719381 0.6191159 0 0.06437526 FALSE 4.06501e-06 ENSE00002339454_010 ENSE00002339454 010 2 118732731 118732900 - 33 93 44 T C 118732814 2558 87 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTGCAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975237 117975238 117975238 exon 43 0.4623656 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTGCAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 62 66 1 1 1 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.07982467 NA 0.8891534 NA 0.1108466 NA FALSE NA 0 -2.221 rs191929076 missense_variant MODERATE CCDC93 HGNC 25611 ENST00000376300 9/24 rs191929076 1 tolerated(1) benign(0) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GTA T,C 5.765e-05 2:117975238 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 missense_variant -2.393843 0.09728 0.00686 0.719381 0.2791743 0 0.06437526 FALSE 4.47202e-05 ENSE00002339454_013 ENSE00002339454 013 2 118732731 118732900 - 33 93 44 T G 118732830 2561 71 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCCGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975253 117975254 117975254 exon 27 0.2903226 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCCGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 3230 2046 0.9997194 0.9700293 0.9848743 NA NA 0.8581316 0.9201753 NA NA 0.1415878 0.04985397 NA 0.8891534 NA 0.09572089 NA FALSE NA 0.001 -0.17 . synonymous_variant LOW CCDC93 HGNC 25611 ENST00000376300 9/24 1 NA CTG T,G 3.295e-05 2:117975254 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 synonymous_variant -0.341007 0.15118 0.00978 0.719381 0.3508548 0 0.06437526 FALSE 8.54444e-05 ENSE00002339454_015 ENSE00002339454 015 2 118732731 118732900 - 33 93 44 G A 118732837 2563 64 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGTACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975260 117975261 117975261 exon 20 0.2150538 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGTACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 322 452 1 0.9887041 0.994352 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.06852876 NA 0.8891534 NA 0.1051986 NA FALSE NA 0 0.803 . missense_variant MODERATE CCDC93 HGNC 25611 ENST00000376300 9/24 rs368632876 1 tolerated(0.37) benign(0.001) NA A:0 A:0.0002 TGC G,A 2.471e-05 2:117975261 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 missense_variant 0.66119 0.26376 0.10935 0.719381 0.5670471 0 0.06437526 FALSE 3.25828e-05 ENSE00002339454_017 ENSE00002339454 017 2 118732731 118732900 - 33 93 44 C A 118732839 2565 62 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACTGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975262 117975263 117975263 exon 18 0.1935484 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACTGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 450 42 1 1 1 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.07982467 NA 0.8891534 NA 0.1108466 NA FALSE NA 0 -5.204 NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:117975263 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 synonymous_variant 1.561502 0.17205 0.04261 0.719381 0.4632201 0 0.06437526 FALSE 1.62922e-05 ENSE00002339454_018 ENSE00002339454 018 2 118732731 118732900 - 33 93 44 G A 118732840 2566 61 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAATGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975263 117975264 117975264 exon 17 0.1827957 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAATGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 280 116 1 0.9903343 0.9951672 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.07015899 NA 0.8891534 NA 0.1060137 NA FALSE NA 0 0.004 . missense_variant MODERATE CCDC93 HGNC 25611 ENST00000376300 9/24 rs200815626 1 tolerated(0.14) benign(0.001) A:0.0008 A:0 A:0 NA A:0.001 A:0 A:0.0031 CGT G,A 0.0002636 2:117975264 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 missense_variant -0.687894 0.17156 0.0685 0.719381 0.5586522 0 0.06437526 FALSE 0.000236279 ENSE00002339454_019 ENSE00002339454 019 2 118732731 118732900 - 33 93 44 T G 118732843 2567 58 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGACAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975266 117975267 117975267 exon 14 0.1505376 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGACAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 164 259 0.9861759 1 0.9930879 NA NA 0.8581316 0.9201753 NA NA 0.1280443 0.07982467 NA 0.8891534 NA 0.1039345 NA FALSE NA 1 5.032 . missense_variant MODERATE CCDC93 HGNC 25611 ENST00000376300 9/24 COSM1005862 1 tolerated(0.05) benign(0.434) NA TTT T,G 8.236e-06 2:117975267 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 missense_variant 2.582264 0.99048 0.9926 0.719381 0.9977323 0 0.06437526 FALSE 8.14803e-06 ENSE00002339454_022 ENSE00002339454 022 2 118732731 118732900 - 33 93 44 G T 118732864 2570 37 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCACTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975287 117975288 117975288 upstr_intron -8 -0.1590909 TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCACTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 540 20 1 1 1 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.07982467 NA 0.8891534 NA 0.1108466 NA FALSE NA 0.93 1.316 . splice_region_variant&intron_variant LOW CCDC93 HGNC 25611 ENST00000376300 8/23 1 NA GGG G,T 8.237e-06 2:117975288 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 splice_region_variant -0.038096 0.27604 0.79692 0.091178 0.5035377 0.154097 0.06437526 FALSE NA ENSE00002339454_024 ENSE00002339454 024 2 118732731 118732900 - 33 93 44 G A 118732883 2572 18 TCTCCATCTCCCGTGCTTAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975306 117975307 117975307 upstr_intron -27 -0.5909091 TCTCCATCTCCCGTGCTTAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 27 28 1 1 1 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.07982467 NA 0.8891534 NA 0.1108466 NA FALSE NA 0 -0.601 . intron_variant MODIFIER CCDC93 HGNC 25611 ENST00000376300 8/23 1 NA TGA G,A 8.236e-06 2:117975307 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 intron_variant 0.129958 0.16579 0.03977 0.091178 0.6598374 0.140237 0.06437526 FALSE NA ENSE00002339454_025 ENSE00002339454 025 2 118732731 118732900 - 33 93 44 C T 118732888 2573 13 TCTCCATCTCCCATGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT 117975154 117975324 117975311 117975312 117975312 upstr_intron -32 -0.7045455 TCTCCATCTCCCATGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT TCTCCATCTCCCGTGCTCAGCTGTTTTCACATCTTCCCTTGCAGGCTGAGGACAAGAAAACGGCACTTCCAGCAGGGCTGTCAGCTACAGAAAAAGCTGATGCCCACGAGGAAGATGAGCTTCGAGCAGCTGAAGAGGTGTGTGGTCCATGTAGGCCCTCTGAGGTTTCT mutant NA NA NA NA NA 187 293 1 0.99987 0.999935 NA NA 0.8581316 0.9201753 NA NA 0.1418684 0.07969467 NA 0.8891534 NA 0.1107816 NA FALSE NA 0 -0.82 . intron_variant MODIFIER CCDC93 HGNC 25611 ENST00000376300 8/23 rs372086466 1 NA T:0.0005 T:0 ACG C,T 4.118e-05 2:117975312 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003655122 intron_variant -0.288183 0.15986 0.02959 0.091178 0.6489737 0.140237 0.06437526 FALSE 5.83615e-05 ENSE00002340030_000 ENSE00002340030 000 2 233348096 233348265 - 30 99 41 NA NA NA NA NA CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 NA NA NA NA NA NA CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT natural NA NA NA NA NA 632 1644 0.9999349 0.906556 0.9532454 NA NA 0.9999349 0.906556 NA NA 0 0 NA 0.9532454 NA 0 NA FALSE NA NA NA NA NA NA ECEL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECEL1 NA NA NA ENSG00000171551 ENSE00003669974 NA NA NA NA NA NA NA 9.109673e-05 FALSE NA ENSE00002340030_001 ENSE00002340030 001 2 233348096 233348265 - 30 99 41 G A 233348106 5303 160 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTTATTGGTTGGT 232483385 232483555 232483395 232483396 232483396 downstr_intron 20 1.689655 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTTATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 48 23 0.9873438 0.9930607 0.9902023 NA NA 0.9999349 0.906556 NA NA -0.01259103 0.0865047 NA 0.9532454 NA 0.03695683 NA FALSE NA 0.021 2.893 . intron_variant MODIFIER ECEL1 HGNC 3147 ENST00000409941 7/16 1 NA TGA G,A 2.472e-05 2:232483396 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 intron_variant 0.09932 0.19304 0.30611 0.056701 0.2924113 0.0490119 9.109673e-05 FALSE 1.32701e-05 ENSE00002340030_002 ENSE00002340030 002 2 233348096 233348265 - 30 99 41 C T 233348108 5304 158 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTATCATTGGTTGGT 232483385 232483555 232483397 232483398 232483398 downstr_intron 18 1.62069 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTATCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 11 64 1 1 1 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.09344398 NA 0.9532454 NA 0.04675456 NA FALSE NA 0 -0.342 . intron_variant MODIFIER ECEL1 HGNC 3147 ENST00000409941 7/16 rs374660032 1 NA T:0 T:0.0001 ACA C,T 8.239e-06 2:232483398 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 intron_variant -0.036788 0.20872 0.04525 0.056701 0.3582825 0.0490119 9.109673e-05 FALSE NA ENSE00002340030_003 ENSE00002340030 003 2 233348096 233348265 - 30 99 41 T A 233348111 5305 155 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCTGTGTCATTGGTTGGT 232483385 232483555 232483400 232483401 232483401 downstr_intron 15 1.517241 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCTGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 42 40 1 0.9960254 0.9980127 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.0894694 NA 0.9532454 NA 0.04476727 NA FALSE NA 0 -1.54 . intron_variant MODIFIER ECEL1 HGNC 3147 ENST00000409941 7/16 1 NA CTG T,A 8.238e-06 2:232483401 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 intron_variant -0.146013 0.06593 0.01247 0.056701 0.3928687 0.0490119 9.109673e-05 FALSE NA ENSE00002340030_004 ENSE00002340030 004 2 233348096 233348265 - 30 99 41 G A 233348114 5306 152 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGATCCAGTGTCATTGGTTGGT 232483385 232483555 232483403 232483404 232483404 downstr_intron 12 1.413793 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGATCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 1464 162 0.9967218 0.9990225 0.9978721 NA NA 0.9999349 0.906556 NA NA -0.003213095 0.09246647 NA 0.9532454 NA 0.04462669 NA FALSE NA 0 0.245 rs191574294 intron_variant MODIFIER ECEL1 HGNC 3147 ENST00000409941 7/16 rs191574294 1 A:0.0008 A:0 A:0 NA A:0 A:0.003 A:0.001 A:0.0016 A:0.0037 GGT G,A 0.003015 2:232483404 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 intron_variant 0.06426 0.1607 0.03461 0.056701 0.2671739 0.0490119 9.109673e-05 FALSE 0.00296704 ENSE00002340030_005 ENSE00002340030 005 2 233348096 233348265 - 30 99 41 C A 233348120 5307 146 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGTGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483409 232483410 232483410 downstr_intron 6 1.206897 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGTGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 116 117 0.8022444 1 0.9011222 NA NA 0.9999349 0.906556 NA NA -0.1976905 0.09344398 NA 0.9532454 NA -0.05212325 NA FALSE NA 0 -0.259 NA NA NA ECEL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:232483410 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 splice_region_variant 0.366778 0.25444 0.14824 0.056701 0.3295069 0.0566418 9.109673e-05 FALSE 0.000502847 ENSE00002340030_011 ENSE00002340030 011 2 233348096 233348265 - 30 99 41 G A 233348153 5313 113 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCTGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483442 232483443 232483443 exon -28 0.7272727 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCTGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 18 20 0.9533351 1 0.9766675 NA NA 0.9999349 0.906556 NA NA -0.04659978 0.09344398 NA 0.9532454 NA 0.0234221 NA FALSE NA 0.005 -1.315 rs146818286 synonymous_variant LOW ECEL1 HGNC 3147 ENST00000409941 7/17 rs146818286 1 A:0.0010 A:0.003 A:0 NA A:0 A:0.001 A:0 A:0.0034 A:0 CGG G,A 0.0003212 2:232483443 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 synonymous_variant 1.248528 0.92335 0.11462 0.695654 0.5774696 0 9.109673e-05 FALSE 0.000241621 ENSE00002340030_012 ENSE00002340030 012 2 233348096 233348265 - 30 99 41 C T 233348155 5314 111 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACACCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483444 232483445 232483445 exon -30 0.7070707 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACACCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 54 250 0.95 0.9556546 0.9528273 NA NA 0.9999349 0.906556 NA NA -0.04993487 0.04909855 NA 0.9532454 NA -0.0004181595 NA FALSE NA 0.993 2.168 . missense_variant MODERATE ECEL1 HGNC 3147 ENST00000409941 7/17 COSM3695336 1 tolerated(0.26) benign(0.003) NA GCG C,T 2.471e-05 2:232483445 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 missense_variant 3.080581 0.98168 0.87353 0.695654 0.9927976 0 9.109673e-05 FALSE 2.04725e-05 ENSE00002340030_015 ENSE00002340030 015 2 233348096 233348265 - 30 99 41 C T 233348163 5317 103 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTAGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483452 232483453 232483453 exon -38 0.6262626 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTAGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 28 14 1 1 1 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.09344398 NA 0.9532454 NA 0.04675456 NA FALSE NA 1 4.945 . stop_gained HIGH ECEL1 HGNC 3147 ENST00000409941 7/17 1 NA HC CCA C,T 8.237e-06 2:232483453 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 stop_gained 13.86265 0.99617 0.98773 0.695654 0.9972666 0 9.109673e-05 FALSE 4.08624e-06 ENSE00002340030_017 ENSE00002340030 017 2 233348096 233348265 - 30 99 41 C T 233348177 5319 89 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTAGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483466 232483467 232483467 exon 48 0.4848485 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTAGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 36 66 0.9516774 0.923202 0.9374397 NA NA 0.9999349 0.906556 NA NA -0.04825742 0.01664596 NA 0.9532454 NA -0.01580573 NA FALSE NA 1 1.732 . synonymous_variant LOW ECEL1 HGNC 3147 ENST00000409941 7/17 1 NA CCA C,T 1.647e-05 2:232483467 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 synonymous_variant 1.21732 0.98074 0.95188 0.695654 0.6855112 0 9.109673e-05 FALSE 8.16767e-06 ENSE00002340030_019 ENSE00002340030 019 2 233348096 233348265 - 30 99 41 C T 233348181 5321 85 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCACCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483470 232483471 232483471 exon 44 0.4444444 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCACCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 153 32 0.9845079 0.95 0.9672539 NA NA 0.9999349 0.906556 NA NA -0.01542699 0.04344398 NA 0.9532454 NA 0.0140085 NA FALSE NA 1 4.035 . missense_variant MODERATE ECEL1 HGNC 3147 ENST00000409941 7/17 1 deleterious(0.03) possibly_damaging(0.828) NA GCG C,T 8.237e-06 2:232483471 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 missense_variant 6.641956 0.99657 0.98307 0.695654 0.9993962 0 9.109673e-05 FALSE 8.17027e-06 ENSE00002340030_020 ENSE00002340030 020 2 233348096 233348265 - 30 99 41 G A 233348182 5322 84 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGTGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483471 232483472 232483472 exon 43 0.4343434 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGTGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 165 88 1 1 1 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.09344398 NA 0.9532454 NA 0.04675456 NA FALSE NA 1 5.322 rs148278283 missense_variant MODERATE ECEL1 HGNC 3147 ENST00000409941 7/17 rs148278283 1 deleterious(0.01) possibly_damaging(0.905) NA A:0 A:0.0001 CGC G,A 0.0001565 2:232483472 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 missense_variant 5.678589 0.98388 0.96722 0.695654 0.9991039 0 9.109673e-05 FALSE 8.58903e-05 ENSE00002340030_022 ENSE00002340030 022 2 233348096 233348265 - 30 99 41 T C 233348199 5324 67 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAGGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483488 232483489 232483489 exon 26 0.2626263 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAGGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 250 12 0.9603935 0.9582797 0.9593366 NA NA 0.9999349 0.906556 NA NA -0.03954133 0.05172368 NA 0.9532454 NA 0.006091173 NA FALSE NA 1 3.505 . missense_variant MODERATE ECEL1 HGNC 3147 ENST00000409941 7/17 1 tolerated(0.54) probably_damaging(0.999) NA CTT T,C 1.647e-05 2:232483489 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 missense_variant 3.642963 0.99529 0.96422 0.695654 0.9945126 0 9.109673e-05 FALSE 8.2025e-06 ENSE00002340030_023 ENSE00002340030 023 2 233348096 233348265 - 30 99 41 T C 233348203 5325 63 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACGTCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483492 232483493 232483493 exon 22 0.2222222 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACGTCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 39 196 0.9729026 1 0.9864513 NA NA 0.9999349 0.906556 NA NA -0.02703224 0.09344398 NA 0.9532454 NA 0.03320587 NA FALSE NA 1 5.12 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:232483493 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 missense_variant 2.009091 0.99128 0.98388 0.695654 0.9989197 0 9.109673e-05 FALSE 1.23164e-05 ENSE00002340030_024 ENSE00002340030 024 2 233348096 233348265 - 30 99 41 T A 233348203 5326 63 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACTTCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483492 232483493 232483493 exon 22 0.2222222 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACTTCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 26 267 1 1 1 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.09344398 NA 0.9532454 NA 0.04675456 NA FALSE NA 1 5.12 NA NA NA ECEL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECEL1 NA NA NA ENSG00000171551 ENSE00003669974 missense_variant 6.276789 0.99147 0.98789 0.695654 0.9893569 0 9.109673e-05 FALSE 4.10546e-06 ENSE00002340030_026 ENSE00002340030 026 2 233348096 233348265 - 30 99 41 C T 233348212 5328 54 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAATGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483501 232483502 232483502 exon 13 0.1313131 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAATGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 32 358 1 0.9970772 0.9985386 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.09052113 NA 0.9532454 NA 0.04529313 NA FALSE NA 1 4.039 . missense_variant MODERATE ECEL1 HGNC 3147 ENST00000409941 7/17 1 deleterious(0) probably_damaging(0.919) NA ACT C,T 8.238e-06 2:232483502 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 missense_variant 6.313956 0.99131 0.95051 0.695654 0.9988318 0 9.109673e-05 FALSE NA ENSE00002340030_027 ENSE00002340030 027 2 233348096 233348265 - 30 99 41 G A 233348215 5329 51 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGTTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483504 232483505 232483505 exon 10 0.1010101 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGTTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 131 705 0.99778 0.999946 0.998863 NA NA 0.9999349 0.906556 NA NA -0.002154884 0.09338998 NA 0.9532454 NA 0.04561755 NA FALSE NA 1 2.898 NA NA NA ECEL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:232483505 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 synonymous_variant 0.524296 0.98157 0.9465 0.695654 0.7092921 0 9.109673e-05 FALSE 0.000411024 ENSE00002340030_029 ENSE00002340030 029 2 233348096 233348265 - 30 99 41 C T 233348216 5331 50 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAACTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483505 232483506 232483506 exon 9 0.09090909 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAACTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 711 63 1 0.9974813 0.9987406 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.09092527 NA 0.9532454 NA 0.0454952 NA FALSE NA 1 2.196 . synonymous_variant LOW ECEL1 HGNC 3147 ENST00000409941 7/17 1 NA GCT C,T 8.238e-06 2:232483506 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 synonymous_variant 0.468726 0.98959 0.94836 0.695654 0.6932154 0 9.109673e-05 FALSE 4.17885e-06 ENSE00002340030_031 ENSE00002340030 031 2 233348096 233348265 - 30 99 41 C T 233348222 5333 44 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTACAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483511 232483512 232483512 exon 3 0.03030303 CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTACAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 205 627 0.9954981 0.9983985 0.9969483 NA NA 0.9999349 0.906556 NA NA -0.004436796 0.09184247 NA 0.9532454 NA 0.04370284 NA FALSE NA 0 -3.023 NA NA NA ECEL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:232483512 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 splice_region_variant 0.42575 0.9475 0.1486 0.695654 0.3906858 0 9.109673e-05 FALSE NA ENSE00002340030_033 ENSE00002340030 033 2 233348096 233348265 - 30 99 41 G A 233348236 5335 30 CTGCTGGGTTGACCCTTGCTCCCTGACCCTTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483525 232483526 232483526 upstr_intron -12 -0.2682927 CTGCTGGGTTGACCCTTGCTCCCTGACCCTTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 122 17 1 0.990581 0.9952905 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.08402502 NA 0.9532454 NA 0.04204507 NA FALSE NA 0 0.161 . intron_variant MODIFIER ECEL1 HGNC 3147 ENST00000409941 6/16 1 NA AGG G,A 8.238e-06 2:232483526 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 intron_variant 0.5795 0.27391 0.03973 0.056701 0.6914716 0.0479575 9.109673e-05 FALSE NA ENSE00002340030_034 ENSE00002340030 034 2 233348096 233348265 - 30 99 41 G A 233348237 5336 29 CTGCTGGGTTGACCCTTGCTCCCTGACCTCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483526 232483527 232483527 upstr_intron -13 -0.2926829 CTGCTGGGTTGACCCTTGCTCCCTGACCTCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 146 1000 1 1 1 NA NA 0.9999349 0.906556 NA NA 6.513414e-05 0.09344398 NA 0.9532454 NA 0.04675456 NA FALSE NA 0 0.414 NA NA NA ECEL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:232483527 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 intron_variant 0.389219 0.18352 0.01172 0.056701 0.5978399 0.0479575 9.109673e-05 FALSE 3.10813e-05 ENSE00002340030_036 ENSE00002340030 036 2 233348096 233348265 - 30 99 41 T C 233348240 5338 26 CTGCTGGGTTGACCCTTGCTCCCTGGCCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 232483529 232483530 232483530 upstr_intron -16 -0.3658537 CTGCTGGGTTGACCCTTGCTCCCTGGCCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT mutant NA NA NA NA NA 833 77 0.9841702 0.9995042 0.9918372 NA NA 0.9999349 0.906556 NA NA -0.01576467 0.0929482 NA 0.9532454 NA 0.03859176 NA FALSE NA 0 -0.817 . intron_variant MODIFIER ECEL1 HGNC 3147 ENST00000409941 6/16 1 NA GTC T,C 1.648e-05 2:232483530 ECEL1 HGNC Symbol protein_coding 8001 ENSG00000171551 ENSE00003669974 intron_variant 0.09178 0.18194 0.03319 0.056701 0.6459453 0.106731 9.109673e-05 FALSE NA ENSE00002340030_BRK ENSE00002340030 BRK 2 233348096 233348265 - 30 99 41 A,G; T,T NA NA NA CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCTTGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGCCGAGGGGGGACCCAGTGTCATTGGTTGGT 232483385 232483555 NA NA NA NA NA NA CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCTTGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGCCGAGGGGGGACCCAGTGTCATTGGTTGGT CTGCTGGGTTGACCCTTGCTCCCTGACCCCTGACCCTGCAGGTGCAGCAGCTAGTGGAAGACATCAAGTACATCCTGGGCCAGCGCCTGGAGGAGCTGGACTGGATGGACGCCGAGACCAGGGCTGCTGCTCGGGCCAAGGTGAGGGGGGACCCAGTGTCATTGGTTGGT control 11 110 0 0 0 NA NA NA NA NA NA NA 0.9999349 0.906556 NA NA NA NA NA 0.9532454 NA NA NA NA NA NA NA NA NA NA ECEL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECEL1 NA NA NA ENSG00000171551 ENSE00003669974 NA NA NA NA NA NA NA 9.109673e-05 FALSE NA ENSE00002340303_000 ENSE00002340303 000 7 101671312 101671481 + 66 48 56 NA NA NA NA NA TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT 102028031 102028201 NA NA NA NA NA NA TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT natural 29 109 0.9788272 0.9720205 0.9754238 2939 3511 0.9937821 0.9287107 0.9612464 0.9788272 0.9720205 0.9937821 0.9287107 0 0 0 0 0.9754238 0.9612464 0 0 0 FALSE FALSE NA NA NA NA NA CUX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CUX1 NA NA NA ENSG00000257923 ENSE00003700196 NA NA NA NA NA NA NA 0.9999889 TRUE NA ENSE00002340303_001 ENSE00002340303 001 7 101671312 101671481 + 66 48 56 C G 101671329 2119 18 TAACCAATGTTTCCCTTGTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT 102028031 102028201 102028048 102028049 102028049 upstr_intron -49 -0.7272727 TAACCAATGTTTCCCTTGTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 19 503 1 1 1 0.9788272 0.9720205 0.9937821 0.9287107 NA NA 0.006217852 0.07128932 0.9754238 0.9612464 NA 0.03875359 NA FALSE NA 0.993 0.195 . intron_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 2/22 rs550059780 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TCT C,G 8.236e-06 7:102028049 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 intron_variant 2.304147 0.74588 0.79819 0.295142 0.7105706 0.246674 0.9999889 TRUE 1.23025e-05 ENSE00002340303_003 ENSE00002340303 003 7 101671312 101671481 + 66 48 56 C T 101671348 2121 37 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGTTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT 102028031 102028201 102028067 102028068 102028068 upstr_intron -30 -0.4393939 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGTTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 389 765 0.9920256 0.9964399 0.9942327 0.9788272 0.9720205 0.9937821 0.9287107 NA NA -0.001756545 0.0677292 0.9754238 0.9612464 NA 0.03298633 NA FALSE NA 0.147 1.078 . intron_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 2/22 1 NA GCT C,T 8.236e-06 7:102028068 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 intron_variant 3.626711 0.98973 0.66217 0.295142 0.8716561 0.968872 0.9999889 TRUE 4.07741e-06 ENSE00002340303_004 ENSE00002340303 004 7 101671312 101671481 + 66 48 56 C T 101671363 2122 52 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCTGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT 102028031 102028201 102028082 102028083 102028083 upstr_intron -15 -0.2121212 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCTGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 810 987 0.9952204 0.9972662 0.9962433 0.9788272 0.9720205 0.9937821 0.9287107 NA NA 0.001438297 0.06855548 0.9754238 0.9612464 NA 0.03499689 NA FALSE NA 0 -0.095 . intron_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 2/22 rs200849897 1 T:0.0004 T:0.0008 T:0 NA T:0.001 T:0 T:0 CCG C,T 3.295e-05 7:102028083 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 intron_variant 1.363406 0.08934 0.00596 0.295142 0.7457808 0.186799 0.9999889 TRUE 3.25579e-05 ENSE00002340303_005 ENSE00002340303 005 7 101671312 101671481 + 66 48 56 T C 101671367 2123 56 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCCCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT 102028031 102028201 102028086 102028087 102028087 upstr_intron -11 -0.1515152 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCCCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 2125 1106 0.9999806 0.9654058 0.9826932 0.9788272 0.9720205 0.9937821 0.9287107 NA NA 0.006198484 0.03669508 0.9754238 0.9612464 NA 0.02144678 NA FALSE NA 0 0.566 . intron_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 2/22 rs370789247 1 NA C:0 C:0.0001 CTC T,C 8.236e-06 7:102028087 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 intron_variant 1.699827 0.17447 0.12428 0.295142 0.7282171 0.201495 0.9999889 TRUE 8.13524e-06 ENSE00002340303_006 ENSE00002340303 006 7 101671312 101671481 + 66 48 56 C G 101671397 2124 86 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGGGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT 102028031 102028201 102028116 102028117 102028117 exon 20 0.4166667 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGGGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 174 900 0.990865 0.9997819 0.9953234 0.9788272 0.9720205 0.9937821 0.9287107 NA NA -0.002917138 0.0710712 0.9754238 0.9612464 NA 0.03407703 NA FALSE NA 0.999 5.021 rs143267032 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 3/23 rs143267032&COSM1202703&COSM1202704 1 NA G:0 G:0.0002 GCG C,G 8.236e-06 7:102028117 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 missense_variant 5.5322 0.98985 0.97141 0.706298 0.9930302 0 0.9999889 TRUE 2.43883e-05 ENSE00002340303_007 ENSE00002340303 007 7 101671312 101671481 + 66 48 56 G A 101671398 2125 87 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCACCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT 102028031 102028201 102028117 102028118 102028118 exon 21 0.4375 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCACCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 1201 3288 0.9971909 0.9973216 0.9972563 0.9788272 0.9720205 0.9937821 0.9287107 NA NA 0.0034088 0.06861093 0.9754238 0.9612464 NA 0.03600986 NA FALSE NA 0.081 -1.031 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 3/23 rs374397164 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGC G,A 4.942e-05 7:102028118 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 synonymous_variant 1.609758 0.23778 0.02957 0.706298 0.7754222 0 0.9999889 TRUE 4.87734e-05 ENSE00002340303_010 ENSE00002340303 010 7 101671312 101671481 + 66 48 56 C G 101671461 2128 150 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACGCTTCGTGGCTAATTGGTCTT 102028031 102028201 102028180 102028181 102028181 downstr_intron 36 1.654545 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACGCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 217 574 0.9752827 1 0.9876414 0.9788272 0.9720205 0.9937821 0.9287107 NA NA -0.01849944 0.07128932 0.9754238 0.9612464 NA 0.02639494 NA FALSE NA 0 0.025 . intron_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 3/22 1 NA CCC C,G 1.647e-05 7:102028181 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 intron_variant 0.646658 0.21781 0.13867 0.088506 0.7124677 0.046323 0.9999889 TRUE 1.22289e-05 ENSE00002340303_011 ENSE00002340303 011 7 101671312 101671481 + 66 48 56 C T 101671465 2129 154 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTTGTGGCTAATTGGTCTT 102028031 102028201 102028184 102028185 102028185 downstr_intron 40 1.727273 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTTGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 66 1178 0.9743888 1 0.9871944 0.9788272 0.9720205 0.9937821 0.9287107 NA NA -0.0193933 0.07128932 0.9754238 0.9612464 NA 0.02594801 NA FALSE NA 0 -2.314 . intron_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 3/22 rs547996935 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCG C,T 1.647e-05 7:102028185 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 intron_variant -0.005489 0.09324 0.00627 0.088506 0.8428919 0.046323 0.9999889 TRUE 1.6322e-05 ENSE00002340303_012 ENSE00002340303 012 7 101671312 101671481 + 66 48 56 G A 101671466 2130 155 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCATGGCTAATTGGTCTT 102028031 102028201 102028185 102028186 102028186 downstr_intron 41 1.745455 TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCATGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT mutant NA NA NA NA NA 143 709 1 0.9989736 0.9994868 0.9788272 0.9720205 0.9937821 0.9287107 NA NA 0.006217852 0.0702629 0.9754238 0.9612464 NA 0.03824037 NA FALSE NA 0 -2.236 . intron_variant&non_coding_transcript_variant MODIFIER CUX1 HGNC 2557 ENST00000560541 3/22 rs376238545 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0005 CGT G,A 0.0004365 7:102028186 CUX1 HGNC Symbol protein_coding 468054 ENSG00000257923 ENSE00003700196 intron_variant 0.133691 0.15101 0.00671 0.088506 0.8118154 0.0455939 0.9999889 TRUE 0.000392035 ENSE00002340303_BRK ENSE00002340303 BRK 7 101671312 101671481 + 66 48 56 A,G; T,T NA NA NA TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCTTGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGCCAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT 102028031 102028201 NA NA NA NA NA NA TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCTTGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGCCAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT TAACCAATGTTTCCCTTCTTTCTCCTTCTCAAATGGCTGCTTCCTGACCTCCGCCTCCTGCTCCAGGATTTGCGCAAGCAGGTAGCGCCGCTGCTGAAGAGTTTCCAAGGAGAGGTAAGCTTTTCTATTCATTTTCTATCCTGAGCCACCCTTCGTGGCTAATTGGTCTT control 208 60 0.01886166 0 0.009430829 1123 451 0.001876009 0.07800298 0.03993949 0.9788272 0.9720205 0.9937821 0.9287107 -0.9599655 -0.9720205 -0.9919061 -0.8507077 0.9754238 0.9612464 -0.965993 -0.9213069 0.0446861 TRUE TRUE NA NA NA NA NA CUX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CUX1 NA NA NA ENSG00000257923 ENSE00003700196 NA NA NA NA NA NA NA 0.9999889 TRUE NA ENSE00002340635_000 ENSE00002340635 000 2 238664694 238664863 + 44 93 33 NA NA NA NA NA AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 NA NA NA NA NA NA AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT natural 36 42 0.9989936 0.9978018 0.9983977 3794 3653 0.9921627 0.9855461 0.9888544 0.9989936 0.9978018 0.9921627 0.9855461 0 0 0 0 0.9983977 0.9888544 0 0 0 FALSE FALSE NA NA NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP1 NA NA NA ENSG00000124831 ENSE00003623655 NA NA NA NA NA NA NA 0.3655125 FALSE NA ENSE00002340635_001 ENSE00002340635 001 2 238664694 238664863 + 44 93 33 A G 238664707 5924 14 AACATGGGATTCCGCTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756063 237756064 237756064 upstr_intron -31 -0.6818182 AACATGGGATTCCGCTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 1679 3277 0.9988114 0.9996975 0.9992544 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.006648644 0.01415142 0.9983977 0.9888544 NA 0.01040003 NA FALSE NA 0 -1.856 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 5/7 1 NA CAC A,G 8.237e-06 2:237756064 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 intron_variant -0.185984 0.05802 0.00489 0.099367 0.2464712 0.0833964 0.3655125 FALSE 4.24092e-06 ENSE00002340635_002 ENSE00002340635 002 2 238664694 238664863 + 44 93 33 C A 238664708 5925 15 AACATGGGATTCCAATGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756064 237756065 237756065 upstr_intron -30 -0.6590909 AACATGGGATTCCAATGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 187 64 1 1 1 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01445393 0.9983977 0.9888544 NA 0.0111456 NA FALSE NA 0 -0.602 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 5/7 1 NA ACT C,A 8.237e-06 2:237756065 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 intron_variant 0.002419 0.14469 0.10126 0.099367 0.5010863 0.0815647 0.3655125 FALSE NA ENSE00002340635_003 ENSE00002340635 003 2 238664694 238664863 + 44 93 33 T A 238664712 5926 19 AACATGGGATTCCACTGCATTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756068 237756069 237756069 upstr_intron -26 -0.5681818 AACATGGGATTCCACTGCATTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 645 426 1 0.9976429 0.9988215 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01209687 0.9983977 0.9888544 NA 0.009967067 NA FALSE NA 0 -2.253 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 5/7 1 NA CTT T,A 8.236e-06 2:237756069 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 intron_variant 0.18957 0.07139 0.00418 0.099367 0.5706972 0.0476178 0.3655125 FALSE 4.1197e-06 ENSE00002340635_004 ENSE00002340635 004 2 238664694 238664863 + 44 93 33 T C 238664714 5927 21 AACATGGGATTCCACTGCTTCAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756070 237756071 237756071 upstr_intron -24 -0.5227273 AACATGGGATTCCACTGCTTCAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 90 639 1 0.9997524 0.9998762 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01420635 0.9983977 0.9888544 NA 0.01102181 NA FALSE NA 0 -2.327 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 5/7 1 NA TTA T,C 8.236e-06 2:237756071 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 intron_variant -0.422799 0.06728 0.00639 0.099367 0.2331514 0.0476178 0.3655125 FALSE 8.23615e-06 ENSE00002340635_005 ENSE00002340635 005 2 238664694 238664863 + 44 93 33 A C 238664715 5928 22 AACATGGGATTCCACTGCTTTCGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756071 237756072 237756072 upstr_intron -23 -0.5 AACATGGGATTCCACTGCTTTCGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 716 81 0.9951566 1 0.9975783 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.002993876 0.01445393 0.9983977 0.9888544 NA 0.008723905 NA FALSE NA 0 -0.737 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 5/7 rs372602691 1 NA C:0.0005 C:0 TAG A,C 4.118e-05 2:237756072 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 intron_variant -0.07781 0.10925 0.0152 0.099367 0.4038826 0.0907176 0.3655125 FALSE 2.47088e-05 ENSE00002340635_008 ENSE00002340635 008 2 238664694 238664863 + 44 93 33 T G 238664725 5931 32 AACATGGGATTCCACTGCTTTAGTGCTGTTTGTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756081 237756082 237756082 upstr_intron -13 -0.2727273 AACATGGGATTCCACTGCTTTAGTGCTGTTTGTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 114 730 1 1 1 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01445393 0.9983977 0.9888544 NA 0.0111456 NA FALSE NA 0.054 0.462 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 5/7 rs376052086 1 NA G:0.0002 G:0 TTT T,G 8.236e-06 2:237756082 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 intron_variant 0.171882 0.18341 0.25038 0.099367 0.653937 0.0867935 0.3655125 FALSE 8.18773e-06 ENSE00002340635_009 ENSE00002340635 009 2 238664694 238664863 + 44 93 33 C G 238664729 5932 36 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTGCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756085 237756086 237756086 upstr_intron -9 -0.1818182 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTGCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 529 36 1 1 1 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01445393 0.9983977 0.9888544 NA 0.0111456 NA FALSE NA 0 0.208 rs56219042 intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 5/7 rs56219042 1 G:0.0036 G:0.0015 G:0.0043 NA G:0 G:0.0099 G:0.0031 G:0.0023 G:0.0156 TCC C,G 0.011 2:237756086 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 intron_variant 0.250395 0.17386 0.03579 0.099367 0.5811745 0.089727 0.3655125 FALSE 0.0115952 ENSE00002340635_010 ENSE00002340635 010 2 238664694 238664863 + 44 93 33 C T 238664730 5933 37 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCTTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756086 237756087 237756087 upstr_intron -8 -0.1590909 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCTTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 599 1348 0.994821 1 0.9974105 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.002658272 0.01445393 0.9983977 0.9888544 NA 0.008556103 NA FALSE NA 0 -0.862 . splice_region_variant&intron_variant LOW LRRFIP1 HGNC 6702 ENST00000289175 5/7 rs374328735 1 NA T:0 T:0.0001 CCT C,T 8.236e-06 2:237756087 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 splice_region_variant 0.532937 0.16352 0.03413 0.099367 0.5022488 0.0887428 0.3655125 FALSE 8.1674e-06 ENSE00002340635_011 ENSE00002340635 011 2 238664694 238664863 + 44 93 33 A G 238664754 5934 61 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAGACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756110 237756111 237756111 exon 17 0.1827957 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAGACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 492 762 0.999413 1 0.9997065 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007250277 0.01445393 0.9983977 0.9888544 NA 0.01085211 NA FALSE NA 0.992 2.464 . missense_variant MODERATE LRRFIP1 HGNC 6702 ENST00000289175 6/8 1 tolerated(0.06) possibly_damaging(0.857) NA AAA A,G 1.647e-05 2:237756111 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 missense_variant 4.253695 0.97681 0.91713 0.732398 0.9976721 0 0.3655125 FALSE 4.07282e-06 ENSE00002340635_013 ENSE00002340635 013 2 238664694 238664863 + 44 93 33 C A 238664762 5936 69 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCAACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756118 237756119 237756119 exon 25 0.2688172 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCAACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 67 182 1 1 1 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01445393 0.9983977 0.9888544 NA 0.0111456 NA FALSE NA 1 5.36 rs182477318 missense_variant MODERATE LRRFIP1 HGNC 6702 ENST00000289175 6/8 rs182477318 1 deleterious(0) probably_damaging(0.986) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CCA C,A 6.589e-05 2:237756119 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 missense_variant 4.020705 0.98848 0.9784 0.732398 0.9886738 0 0.3655125 FALSE 8.13769e-05 ENSE00002340635_014 ENSE00002340635 014 2 238664694 238664863 + 44 93 33 A C 238664765 5937 72 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACCGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756121 237756122 237756122 exon 28 0.3010753 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACCGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 150 682 0.9969424 0.8799207 0.9384315 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.00477969 -0.1056254 0.9983977 0.9888544 NA -0.05042286 NA FALSE NA 1 4.592 rs148114732 missense_variant MODERATE LRRFIP1 HGNC 6702 ENST00000289175 6/8 rs148114732 1 tolerated(0.06) possibly_damaging(0.465) C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 C:0.0025 C:0 CAG A,C 0.0002883 2:237756122 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 missense_variant 2.661608 0.97733 0.96711 0.732398 0.9914224 0 0.3655125 FALSE 0.000178903 ENSE00002340635_015 ENSE00002340635 015 2 238664694 238664863 + 44 93 33 T G 238664785 5938 92 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTGGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756141 237756142 237756142 exon -46 0.516129 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTGGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 1904 85 0.9956351 1 0.9978175 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.003472342 0.01445393 0.9983977 0.9888544 NA 0.008963138 NA FALSE NA 0.936 0.108 . missense_variant MODERATE LRRFIP1 HGNC 6702 ENST00000289175 6/8 1 tolerated(0.13) benign(0.248) NA TTG T,G 8.236e-06 2:237756142 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 missense_variant 2.561978 0.92528 0.75567 0.732398 0.9876993 0 0.3655125 FALSE 2.8459e-05 ENSE00002340635_017 ENSE00002340635 017 2 238664694 238664863 + 44 93 33 T G 238664793 5940 100 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGGCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756149 237756150 237756150 exon -38 0.6021505 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGGCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 617 1441 1 0.9983456 0.9991728 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01279952 0.9983977 0.9888544 NA 0.01031839 NA FALSE NA 0.622 3.62 . missense_variant MODERATE LRRFIP1 HGNC 6702 ENST00000289175 6/8 1 deleterious(0) possibly_damaging(0.878) NA GTC T,G 1.647e-05 2:237756150 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 missense_variant 2.668318 0.19962 0.59226 0.732398 0.9810402 0 0.3655125 FALSE 8.13345e-06 ENSE00002340635_018 ENSE00002340635 018 2 238664694 238664863 + 44 93 33 A G 238664796 5941 103 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAGGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756152 237756153 237756153 exon -35 0.6344086 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAGGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 314 51 0.9953206 0.9537942 0.9745574 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.003157835 -0.0317519 0.9983977 0.9888544 NA -0.01429703 NA FALSE NA 1 6.64 . missense_variant MODERATE LRRFIP1 HGNC 6702 ENST00000289175 6/8 1 tolerated(0.18) possibly_damaging(0.828) NA AAG A,G 1.647e-05 2:237756153 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 missense_variant 2.796209 0.70492 0.94459 0.732398 0.9968596 0 0.3655125 FALSE 1.22021e-05 ENSE00002340635_019 ENSE00002340635 019 2 238664694 238664863 + 44 93 33 C T 238664825 5942 132 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGTTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756181 237756182 237756182 exon -6 0.9462366 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGTTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 599 151 1 1 1 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01445393 0.9983977 0.9888544 NA 0.0111456 NA FALSE NA 1 3.339 . missense_variant MODERATE LRRFIP1 HGNC 6702 ENST00000289175 6/8 1 deleterious(0.01) probably_damaging(1) NA GCT C,T 8.237e-06 2:237756182 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 missense_variant 6.239261 0.97994 0.93066 0.732398 0.9989428 0 0.3655125 FALSE 4.08143e-06 ENSE00002340635_020 ENSE00002340635 020 2 238664694 238664863 + 44 93 33 C T 238664827 5943 134 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTTGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756183 237756184 237756184 exon -4 0.9677419 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTTGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 364 563 1 0.8763689 0.9381844 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 -0.1091772 0.9983977 0.9888544 NA -0.05066997 NA FALSE NA 0 -2.884 . synonymous_variant LOW LRRFIP1 HGNC 6702 ENST00000289175 6/8 1 NA TCG C,T 1.647e-05 2:237756184 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 synonymous_variant 1.974697 0.04784 0.0161 0.732398 0.5913563 0 0.3655125 FALSE 1.22584e-05 ENSE00002340635_021 ENSE00002340635 021 2 238664694 238664863 + 44 93 33 G A 238664828 5944 135 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCAAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756184 237756185 237756185 exon -3 0.9784946 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCAAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 521 695 0.9962786 1 0.9981393 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.004115826 0.01445393 0.9983977 0.9888544 NA 0.00928488 NA FALSE NA 0.991 3.896 . missense_variant&splice_region_variant MODERATE LRRFIP1 HGNC 6702 ENST00000289175 6/8 1 tolerated(0.31) benign(0.287) NA CGA G,A 1.647e-05 2:237756185 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 missense_variant 4.765176 0.95408 0.88357 0.732398 0.9987423 0 0.3655125 FALSE 1.63544e-05 ENSE00002340635_022 ENSE00002340635 022 2 238664694 238664863 + 44 93 33 A G 238664833 5945 140 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTGGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756189 237756190 237756190 downstr_intron 3 1.09375 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTGGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 90 191 1 1 1 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01445393 0.9983977 0.9888544 NA 0.0111456 NA FALSE NA 0.862 0.121 . splice_region_variant&intron_variant LOW LRRFIP1 HGNC 6702 ENST00000289175 6/7 1 NA TAG A,G 8.237e-06 2:237756190 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 splice_region_variant 1.073073 0.90714 0.45853 0.156188 0.7237527 0.246258 0.3655125 FALSE 2.06342e-05 ENSE00002340635_023 ENSE00002340635 023 2 238664694 238664863 + 44 93 33 G C 238664834 5946 141 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTACGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 237756190 237756191 237756191 downstr_intron 4 1.125 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTACGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 330 465 1 1 1 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.007837268 0.01445393 0.9983977 0.9888544 NA 0.0111456 NA FALSE NA 0.979 1.615 . splice_region_variant&intron_variant LOW LRRFIP1 HGNC 6702 ENST00000289175 6/7 1 NA AGG G,C 8.237e-06 2:237756191 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 splice_region_variant 1.01409 0.94457 0.86737 0.099367 0.8602186 0.240763 0.3655125 FALSE 8.2201e-06 ENSE00002340635_024 ENSE00002340635 024 2 238664694 238664863 + 44 93 33 C T 238664846 5947 153 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCTTGCTTTTCTTTTCCTTT 237756050 237756220 237756202 237756203 237756203 downstr_intron 16 1.5 AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCTTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT mutant NA NA NA NA NA 323 32 0.9936904 0.939999 0.9668447 0.9989936 0.9978018 0.9921627 0.9855461 NA NA 0.001527702 -0.04554706 0.9983977 0.9888544 NA -0.02200968 NA FALSE NA 0 1.038 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 6/7 rs371103279 1 NA T:0.0002 T:0 CCT C,T 1.648e-05 2:237756203 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003623655 intron_variant 0.77508 0.19067 0.12336 0.099367 0.6752604 0.0481801 0.3655125 FALSE 1.25546e-05 ENSE00002340635_BRK ENSE00002340635 BRK 2 238664694 238664863 + 44 93 33 A,G; T,T NA NA NA AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACTTGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGCCAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT 237756050 237756220 NA NA NA NA NA NA AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACTTGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGCCAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT AACATGGGATTCCACTGCTTTAGTGCTGTTTTTCTCCTTTACAGGAATTTGAAAGGGAAAAACACGCCCACAGTATACTGCAATTTCAGTTTGCTGAAGTCAAGGAGGCCCTGAAGCAAAGAGAGGAAATGCTCGAGGTAGGTAGCATTCTCCTGCTTTTCTTTTCCTTT control 329 144 0.003999777 0 0.001999889 NA NA NA NA NA 0.9989936 0.9978018 0.9921627 0.9855461 -0.9949938 -0.9978018 NA NA 0.9983977 0.9888544 -0.9963978 NA NA NA TRUE NA NA NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP1 NA NA NA ENSG00000124831 ENSE00003623655 NA NA NA NA NA NA NA 0.3655125 FALSE NA ENSE00002340692_000 ENSE00002340692 000 2 238443159 238443328 + 48 84 38 NA NA NA NA NA TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC 237534515 237534685 NA NA NA NA NA NA TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC natural NA NA NA NA NA 677 580 0.9922175 0.8958317 0.9440246 NA NA 0.9922175 0.8958317 NA NA 0 0 NA 0.9440246 NA 0 NA FALSE NA NA NA NA NA NA MLPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MLPH NA NA NA ENSG00000115648 ENSE00003461580 NA NA NA NA NA NA NA 0.00125355 FALSE NA ENSE00002340692_003 ENSE00002340692 003 2 238443159 238443328 + 48 84 38 C T 238443175 5776 17 TGGAGTGCACTGGGTCTTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC 237534515 237534685 237534531 237534532 237534532 upstr_intron -32 -0.6458333 TGGAGTGCACTGGGTCTTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC mutant NA NA NA NA NA 111 235 0.8938824 1 0.9469412 NA NA 0.9922175 0.8958317 NA NA -0.09833513 0.1041683 NA 0.9440246 NA 0.002916561 NA FALSE NA 0 -0.238 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000445024 8/16 1 NA CCT C,T 1.647e-05 2:237534532 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003461580 intron_variant 0.297334 0.30059 0.05023 0.056701 0.7362532 0.123112 0.00125355 FALSE 3.65958e-05 ENSE00002340692_014 ENSE00002340692 014 2 238443159 238443328 + 48 84 38 A G 238443226 5787 68 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCGTATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC 237534515 237534685 237534582 237534583 237534583 exon 20 0.2380952 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCGTATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC mutant NA NA NA NA NA 120 340 1 1 1 NA NA 0.9922175 0.8958317 NA NA 0.007782496 0.1041683 NA 0.9440246 NA 0.05597537 NA FALSE NA 0 0.241 rs2292884 missense_variant MODERATE MLPH HGNC 29643 ENST00000445024 9/17 rs2292884&COSM3758068 1 benign(0) G:0.3714 G:0.621 G:0.3098 NA G:0.2748 G:0.2097 G:0.3436 G:0.5681 G:0.2545 CAT G,G 0.289 2:237534583 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003461580 missense_variant -1.031704 0.15769 0.0026 0.615465 0.163605 0 0.00125355 FALSE 0.282945 ENSE00002340692_015 ENSE00002340692 015 2 238443159 238443328 + 48 84 38 G A 238443248 5788 90 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTACTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC 237534515 237534685 237534604 237534605 237534605 exon 42 0.5 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTACTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC mutant NA NA NA NA NA 816 73 0.9060653 0.9807138 0.9433895 NA NA 0.9922175 0.8958317 NA NA -0.08615221 0.08488202 NA 0.9440246 NA -0.0006350971 NA FALSE NA 0.99 2.59 . synonymous_variant LOW MLPH HGNC 29643 ENST00000445024 9/17 1 NA TGC G,A 8.236e-06 2:237534605 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003461580 synonymous_variant 0.13982 0.78538 0.58001 0.615465 0.5728979 0 0.00125355 FALSE 4.06131e-06 ENSE00002340692_017 ENSE00002340692 017 2 238443159 238443328 + 48 84 38 A G 238443265 5790 107 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAGCACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC 237534515 237534685 237534621 237534622 237534622 exon -26 0.702381 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAGCACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC mutant NA NA NA NA NA 97 809 0.8413086 0.8 0.8206543 NA NA 0.9922175 0.8958317 NA NA -0.1509089 -0.09583175 NA 0.9440246 NA -0.1233703 NA FALSE NA 0.104 0.338 . missense_variant MODERATE MLPH HGNC 29643 ENST00000445024 9/17 rs374445073 1 benign(0.007) NA G:0 G:0.0001 AAC A,G 8.236e-06 2:237534622 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003461580 missense_variant -1.350102 0.25438 0.01541 0.615465 0.4063076 0 0.00125355 FALSE 4.06111e-06 ENSE00002340692_021 ENSE00002340692 021 2 238443159 238443328 + 48 84 38 T A 238443298 5794 140 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACAGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC 237534515 237534685 237534654 237534655 237534655 downstr_intron 8 1.216216 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACAGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC mutant NA NA NA NA NA 68 50 1 1 1 NA NA 0.9922175 0.8958317 NA NA 0.007782496 0.1041683 NA 0.9440246 NA 0.05597537 NA FALSE NA 0 -0.292 . splice_region_variant&intron_variant LOW MLPH HGNC 29643 ENST00000445024 9/16 1 NA CTG C,A 8.236e-06 2:237534655 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003461580 splice_region_variant 0.543525 0.32852 0.0256 0.056701 0.4213003 0.0880914 0.00125355 FALSE NA ENSE00002340692_023 ENSE00002340692 023 2 238443159 238443328 + 48 84 38 G T 238443303 5796 145 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGTCTGGGCAAAGAGAAAGGGCCCCCAC 237534515 237534685 237534659 237534660 237534660 downstr_intron 13 1.351351 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGTCTGGGCAAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC mutant NA NA NA NA NA 280 37 1 1 1 NA NA 0.9922175 0.8958317 NA NA 0.007782496 0.1041683 NA 0.9440246 NA 0.05597537 NA FALSE NA 0.003 1.079 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000445024 9/16 1 NA GGC G,T 8.236e-06 2:237534660 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003461580 intron_variant -0.315224 0.23743 0.03269 0.056701 0.5281219 0.108465 0.00125355 FALSE 4.06124e-06 ENSE00002340692_025 ENSE00002340692 025 2 238443159 238443328 + 48 84 38 A C 238443310 5798 152 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCCAAGAGAAAGGGCCCCCAC 237534515 237534685 237534666 237534667 237534667 downstr_intron 20 1.540541 TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCCAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC mutant NA NA NA NA NA 197 127 0.9853438 0.9675352 0.9764395 NA NA 0.9922175 0.8958317 NA NA -0.006873671 0.07170347 NA 0.9440246 NA 0.0324149 NA FALSE NA 0 -1.471 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000445024 9/16 1 NA CAA A,C 8.236e-06 2:237534667 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003461580 intron_variant -0.574426 0.18805 0.00892 0.056701 0.4937134 0.0475951 0.00125355 FALSE 4.06128e-06 ENSE00002340692_BRK ENSE00002340692 BRK 2 238443159 238443328 + 48 84 38 A,G; T,T NA NA NA TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCTTATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGCCAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC 237534515 237534685 NA NA NA NA NA NA TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCTTATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGCCAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC TGGAGTGCACTGGGTCCTCTGCCCACTGTTTCTCTCCTTCTGCTGCAGATCTTTGAGCTGAATAAGCATATTTCAGCTGTGGAATGCCTGCTGACCTACCTGGAGAACACAGTTGTGCCTCCCTTGGCCAAGGTAACACTGGGGGCTGGGCAAAGAGAAAGGGCCCCCAC control 15 18 0 0 0 NA NA NA NA NA NA NA 0.9922175 0.8958317 NA NA NA NA NA 0.9440246 NA NA NA NA NA NA NA NA NA NA MLPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MLPH NA NA NA ENSG00000115648 ENSE00003461580 NA NA NA NA NA NA NA 0.00125355 FALSE NA ENSE00002340936_000 ENSE00002340936 000 1 235850219 235850388 - 30 99 41 NA NA NA NA NA CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 NA NA NA NA NA NA CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT natural NA NA NA NA NA 2677 2346 0.792419 0.9724297 0.8824244 NA NA 0.792419 0.9724297 NA NA 0 0 NA 0.8824244 NA 0 NA FALSE NA NA NA NA NA NA LYST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LYST NA NA NA ENSG00000143669 ENSE00003526789 NA NA NA NA NA NA NA 0.9999784 TRUE NA ENSE00002340936_001 ENSE00002340936 001 1 235850219 235850388 - 30 99 41 C A 235850245 5308 144 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTATGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 235686944 235686945 235686945 downstr_intron 4 1.137931 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTATGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT mutant NA NA NA NA NA 19 492 1 0.9921262 0.9960631 NA NA 0.792419 0.9724297 NA NA 0.207581 0.01969642 NA 0.8824244 NA 0.1136387 NA FALSE NA 0.996 0.375 rs41308172 splice_region_variant&intron_variant&non_coding_transcript_variant LOW LYST HGNC 1968 ENST00000473037 17/21 rs41308172 1 A:0.0028 A:0 A:0.0058 NA A:0 A:0.0089 A:0.001 A:0.0005 A:0.0072 CCT C,A 0.006326 1:235686945 LYST HGNC Symbol protein_coding 222599 ENSG00000143669 ENSE00003526789 splice_region_variant 2.490361 0.98067 0.80308 0.163922 0.8766039 0.860003 0.9999784 TRUE 0.00645332 ENSE00002340936_003 ENSE00002340936 003 1 235850219 235850388 - 30 99 41 C T 235850278 5310 111 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAACCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 235686977 235686978 235686978 exon -30 0.7070707 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAACCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT mutant NA NA NA NA NA 254 697 0.9933334 0.9905296 0.9919315 NA NA 0.792419 0.9724297 NA NA 0.2009144 0.01809987 NA 0.8824244 NA 0.1095071 NA FALSE NA 1 7.57 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LYST HGNC 1968 ENST00000473037 17/22 1 NA GCT C,T 1.647e-05 1:235686978 LYST HGNC Symbol protein_coding 222599 ENSG00000143669 ENSE00003526789 missense_variant 6.496456 0.99613 0.9839 0.615465 0.9985874 0 0.9999784 TRUE 2.03042e-05 ENSE00002340936_004 ENSE00002340936 004 1 235850219 235850388 - 30 99 41 C T 235850290 5311 99 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCAGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 235686989 235686990 235686990 exon -42 0.5858586 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCAGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT mutant 11 26 0.85 0.85 0.85 52 254 0.9144777 0.9135232 0.9140005 NA NA 0.792419 0.9724297 NA NA 0.1220587 -0.05890656 NA 0.8824244 NA 0.03157608 NA FALSE NA 1 7.57 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LYST HGNC 1968 ENST00000473037 17/22 COSM1214129 1 NA CCG C,T 1.647e-05 1:235686990 LYST HGNC Symbol protein_coding 222599 ENSG00000143669 ENSE00003526789 missense_variant 8.066636 0.99613 0.9839 0.6512 0.9982732 0 0.9999784 TRUE 8.12176e-06 ENSE00002340936_005 ENSE00002340936 005 1 235850219 235850388 - 30 99 41 G A 235850291 5312 98 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGTGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 235686990 235686991 235686991 exon -43 0.5757576 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGTGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT mutant NA NA NA NA NA 293 170 0.9435187 0.7965687 0.8700437 NA NA 0.792419 0.9724297 NA NA 0.1510997 -0.1758611 NA 0.8824244 NA -0.01238068 NA FALSE NA 0.952 0.284 rs145136281 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LYST HGNC 1968 ENST00000473037 17/22 rs145136281&COSM1560179 1 NA A:0 A:0.0001 CGC G,A 4.118e-05 1:235686991 LYST HGNC Symbol protein_coding 222599 ENSG00000143669 ENSE00003526789 synonymous_variant 1.328628 0.96708 0.39374 0.6512 0.6518615 0 0.9999784 TRUE 7.30976e-05 ENSE00002340936_006 ENSE00002340936 006 1 235850219 235850388 - 30 99 41 T C 235850305 5313 84 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTGCTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 235687004 235687005 235687005 exon 43 0.4343434 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTGCTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT mutant 42 29 0 0 0 158 411 0.07965516 0.01030787 0.04498151 NA NA 0.792419 0.9724297 NA NA -0.7127639 -0.9621219 NA 0.8824244 NA -0.8374429 NA TRUE NA 1 6.061 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LYST HGNC 1968 ENST00000473037 17/22 rs372868836 1 NA C:0 C:0.0001 GTA T,C 8.236e-06 1:235687005 LYST HGNC Symbol protein_coding 222599 ENSG00000143669 ENSE00003526789 missense_variant 4.500602 0.99466 0.97281 0.6512 0.9966609 0 0.9999784 TRUE 1.21824e-05 ENSE00002340936_009 ENSE00002340936 009 1 235850219 235850388 - 30 99 41 T G 235850320 5316 69 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACCGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 235687019 235687020 235687020 exon 28 0.2828283 CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACCGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT mutant NA NA NA NA NA 645 741 0.9943803 0.9856439 0.9900121 NA NA 0.792419 0.9724297 NA NA 0.2019613 0.01321417 NA 0.8824244 NA 0.1075877 NA FALSE NA 1 3.753 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LYST HGNC 1968 ENST00000473037 17/22 1 NA CTG T,G 8.236e-06 1:235687020 LYST HGNC Symbol protein_coding 222599 ENSG00000143669 ENSE00003526789 missense_variant 4.958276 0.98694 0.94211 0.6512 0.9969316 0 0.9999784 TRUE 4.06088e-06 ENSE00002340936_012 ENSE00002340936 012 1 235850219 235850388 - 30 99 41 C A 235850366 5319 23 CTTTTAAAACATGATAATCTTTTATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 235687065 235687066 235687066 upstr_intron -19 -0.4390244 CTTTTAAAACATGATAATCTTTTATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT mutant NA NA NA NA NA 1490 266 0.8587931 0.9904461 0.9246196 NA NA 0.792419 0.9724297 NA NA 0.0663741 0.01801635 NA 0.8824244 NA 0.04219523 NA FALSE NA 0 0.162 NA NA NA LYST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:235687066 LYST HGNC Symbol protein_coding 222599 ENSG00000143669 ENSE00003526789 intron_variant 0.647251 0.28305 0.10001 0.088506 0.5298166 0.0625199 0.9999784 TRUE 4.06253e-06 ENSE00002340936_014 ENSE00002340936 014 1 235850219 235850388 - 30 99 41 T C 235850373 5321 16 CTTTTAAAACATGATGATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 235687072 235687073 235687073 upstr_intron -26 -0.6097561 CTTTTAAAACATGATGATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT mutant 112 116 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.792419 0.9724297 NA NA NA NA NA 0.8824244 NA NA NA NA NA 0 -1.984 . intron_variant&non_coding_transcript_variant MODIFIER LYST HGNC 1968 ENST00000473037 16/21 rs541300604 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTA T,C 1.647e-05 1:235687073 LYST HGNC Symbol protein_coding 222599 ENSG00000143669 ENSE00003526789 intron_variant 1.370792 0.21136 0.03014 0.088506 0.794316 0.0625199 0.9999784 TRUE 8.12949e-06 ENSE00002340936_BRK ENSE00002340936 BRK 1 235850219 235850388 - 30 99 41 A,G; T,T NA NA NA CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAATTGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGCCAGGTTCTGGGCTTCTGTGTGGGTAGTAT 235686918 235687088 NA NA NA NA NA NA CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAATTGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGCCAGGTTCTGGGCTTCTGTGTGGGTAGTAT CTTTTAAAACATGATAATCTTTGATTGGTCCTTTTTCAAAGGTGACTAGTTGTGCTTGGGTGCCTGACAGTTGCCAGCTGTTTACTGGAAGCAAATGCGGTGTCATCACAGCCTACACAAACAGATTTACAAGCAGCACGGTAGGTTCTGGGCTTCTGTGTGGGTAGTAT control 66 43 0 0 0 43 141 0 0 0 NA NA 0.792419 0.9724297 NA NA -0.792419 -0.9724297 NA 0.8824244 NA -0.8824244 NA TRUE NA NA NA NA NA NA LYST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LYST NA NA NA ENSG00000143669 ENSE00003526789 NA NA NA NA NA NA NA 0.9999784 TRUE NA ENSE00002340960_000 ENSE00002340960 000 15 65214079 65214248 + 41 99 30 NA NA NA NA NA TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC 64921879 64922049 NA NA NA NA NA NA TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC natural NA NA NA NA NA 834 850 0.5895091 0.7724908 0.681 NA NA 0.5895091 0.7724908 NA NA 0 0 NA 0.681 NA 0 NA FALSE NA NA NA NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00003634285 NA NA NA NA NA NA NA 1.161072e-15 FALSE NA ENSE00002341064_000 ENSE00002341064 000 5 176894215 176894384 - 41 78 51 NA NA NA NA NA ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 NA NA NA NA NA NA GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT natural 46 50 0.9833088 0.9854829 0.9843958 700 636 0.8994117 0.9981232 0.9487674 0.9833088 0.9854829 0.8994117 0.9981232 0 0 0 0 0.9843958 0.9487674 0 0 0 FALSE FALSE NA NA NA NA NA DBN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DBN1 NA NA NA ENSG00000113758 ENSE00003537622 NA NA NA NA NA NA NA 0.9626856 TRUE NA ENSE00002341064_001 ENSE00002341064 001 5 176894215 176894384 - 41 78 51 G A 176894230 2482 155 ATGAGGGGTGGCTCAACCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467228 177467229 177467229 downstr_intron 26 1.65 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGTTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 573 238 1 0.9993349 0.9996675 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.1005883 0.001211727 0.9843958 0.9487674 NA 0.05090001 NA FALSE NA 0.003 0.33 . intron_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/2 1 NA AGC G,A 2.471e-05 5:177467229 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 intron_variant 1.170816 0.24097 0.0482 0.184171 0.8102516 0.0484429 0.9626856 TRUE 3.25084e-05 ENSE00002341064_003 ENSE00002341064 003 5 176894215 176894384 - 41 78 51 G A 176894238 2484 147 ATGAGGGGTGGCTCAGCCAGGCCAGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467236 177467237 177467237 downstr_intron 18 1.45 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCTGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 69 786 0.999402 1 0.999701 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.09999034 0.001876814 0.9843958 0.9487674 NA 0.05093357 NA FALSE NA 0 -0.359 rs141342720 intron_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/2 rs141342720 1 A:0.0112 A:0.0401 A:0.0043 NA A:0 A:0 A:0 A:0.0388 A:0.0006 CGG G,A 0.003748 5:177467237 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 intron_variant 0.574068 0.17338 0.02535 0.184171 0.6976259 0.11756 0.9626856 TRUE 0.00295348 ENSE00002341064_004 ENSE00002341064 004 5 176894215 176894384 - 41 78 51 G A 176894246 2485 139 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGAGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467244 177467245 177467245 downstr_intron 10 1.25 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACTCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 581 222 0.9989326 0.9996564 0.9992945 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.09952094 0.001533222 0.9843958 0.9487674 NA 0.05052708 NA FALSE NA 0.012 0.926 . intron_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/2 rs372188389 1 NA A:0.0002 A:0 GGG G,A 8.236e-06 5:177467245 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 intron_variant 1.505698 0.24984 0.09089 0.184171 0.7416577 0.11886 0.9626856 TRUE 8.12301e-06 ENSE00002341064_005 ENSE00002341064 005 5 176894215 176894384 - 41 78 51 T C 176894258 2486 127 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTCGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467256 177467257 177467257 exon -3 0.974359 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCGAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 275 621 1 0.9991993 0.9995997 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.1005883 0.001076133 0.9843958 0.9487674 NA 0.05083221 NA FALSE NA 1 5.707 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW DBN1 HGNC 2695 ENST00000471767 2/3 1 NA TTG T,C 8.236e-06 5:177467257 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 missense_variant 4.714692 0.96056 0.94535 0.67177 0.9970542 0 0.9626856 TRUE NA ENSE00002341064_006 ENSE00002341064 006 5 176894215 176894384 - 41 78 51 C T 176894274 2487 111 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAATTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467272 177467273 177467273 exon -19 0.7692308 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAATTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 89 269 0.9967175 1 0.9983588 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.09730584 0.001876814 0.9843958 0.9487674 NA 0.04959133 NA FALSE NA 0.992 1.063 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/3 1 NA ACT C,T 1.647e-05 5:177467273 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 synonymous_variant 1.377029 0.93254 0.83327 0.67177 0.6887505 0 0.9626856 TRUE 4.06075e-06 ENSE00002341064_007 ENSE00002341064 007 5 176894215 176894384 - 41 78 51 C T 176894281 2488 104 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTTGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467279 177467280 177467280 exon -26 0.6794872 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCAAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 295 164 1 1 1 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.1005883 0.001876814 0.9843958 0.9487674 NA 0.05123255 NA FALSE NA 0.994 5.526 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/3 1 NA TCG C,T 8.236e-06 5:177467280 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 missense_variant 7.780638 0.96768 0.93354 0.67177 0.9995478 0 0.9626856 TRUE 4.06072e-06 ENSE00002341064_008 ENSE00002341064 008 5 176894215 176894384 - 41 78 51 G A 176894291 2489 94 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCACTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467289 177467290 177467290 exon -36 0.5512821 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGTGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 133 883 0.9752563 0.9923126 0.9837844 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.07584455 -0.005810632 0.9843958 0.9487674 NA 0.03501696 NA FALSE NA 1 6.742 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/3 rs376118175 1 NA A:0 A:0.0001 CGC G,A 2.471e-05 5:177467290 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 missense_variant 7.80693 0.94986 0.91776 0.67177 0.9992698 0 0.9626856 TRUE 2.43641e-05 ENSE00002341064_010 ENSE00002341064 010 5 176894215 176894384 - 41 78 51 C T 176894312 2491 73 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATTCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467310 177467311 177467311 exon 22 0.2820513 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGAATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 184 36 0.9984238 1 0.9992119 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.09901207 0.001876814 0.9843958 0.9487674 NA 0.05044444 NA FALSE NA 0.956 3.59 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/3 1 NA TCC C,T 1.647e-05 5:177467311 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 missense_variant 3.655951 0.84918 0.78176 0.67177 0.4376466 0 0.9626856 TRUE 8.1213e-06 ENSE00002341064_011 ENSE00002341064 011 5 176894215 176894384 - 41 78 51 G A 176894314 2492 71 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCATCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467312 177467313 177467313 exon 20 0.2564103 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGATGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 50 476 0.9810807 1 0.9905403 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.08166896 0.001876814 0.9843958 0.9487674 NA 0.04177289 NA FALSE NA 1 9.158 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/3 1 NA CGT G,A 8.236e-06 5:177467313 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 missense_variant 7.087479 0.9683 0.97216 0.67177 0.9991392 0 0.9626856 TRUE 8.12143e-06 ENSE00002341064_012 ENSE00002341064 012 5 176894215 176894384 - 41 78 51 G A 176894325 2493 60 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAAGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467323 177467324 177467324 exon 9 0.1153846 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACTTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 256 63 0.8871099 1 0.9435549 0.9833088 0.9854829 0.8994117 0.9981232 NA NA -0.01230182 0.001876814 0.9843958 0.9487674 NA -0.005212505 NA FALSE NA 0.996 0.422 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 2/3 1 NA AGG G,A 6.589e-05 5:177467324 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 synonymous_variant 1.022859 0.89996 0.71408 0.67177 0.7685995 0 0.9626856 TRUE 3.65464e-05 ENSE00002341064_013 ENSE00002341064 013 5 176894215 176894384 - 41 78 51 A C 176894338 2494 47 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCCGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467336 177467337 177467337 upstr_intron -5 -0.07843137 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACGGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 322 1416 0.9848086 0.9748404 0.9798245 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.08539689 -0.02328274 0.9843958 0.9487674 NA 0.03105707 NA FALSE NA 0 -0.068 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DBN1 HGNC 2695 ENST00000471767 1/2 1 NA CAG A,C 1.647e-05 5:177467337 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 splice_region_variant -0.410974 0.24576 0.14081 0.069865 0.3736108 0.239618 0.9626856 TRUE 1.21828e-05 ENSE00002341064_014 ENSE00002341064 014 5 176894215 176894384 - 41 78 51 G A 176894344 2495 41 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCAAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467342 177467343 177467343 upstr_intron -11 -0.1960784 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTTGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 511 152 0.9991339 0.9929404 0.9960371 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.09972218 -0.00518279 0.9843958 0.9487674 NA 0.04726969 NA FALSE NA 0 0.202 rs41275295 intron_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 1/2 rs41275295 1 A:0.0012 A:0 A:0.0014 NA A:0 A:0.004 A:0.001 A:0.0009 A:0.0079 CGA G,A 0.005205 5:177467343 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 intron_variant -0.283953 0.21719 0.0308 0.069865 0.4676899 0.0836809 0.9626856 TRUE 0.00477602 ENSE00002341064_016 ENSE00002341064 016 5 176894215 176894384 - 41 78 51 C A 176894351 2497 34 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACACAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467349 177467350 177467350 upstr_intron -18 -0.3333333 GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGTGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 266 136 0.9770931 0.976004 0.9765485 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.07768136 -0.02211915 0.9843958 0.9487674 NA 0.0277811 NA FALSE NA 0 -0.213 . intron_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 1/2 1 NA CCC C,A 8.236e-06 5:177467350 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 intron_variant 0.105875 0.19513 0.12303 0.069865 0.3564821 0.0485171 0.9626856 TRUE 1.62505e-05 ENSE00002341064_017 ENSE00002341064 017 5 176894215 176894384 - 41 78 51 A G 176894359 2498 26 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAGGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467357 177467358 177467358 upstr_intron -26 -0.4901961 GGGGTTCCTGGGGCATTCAGCCTGCCTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 40 151 0.7487668 0.8481993 0.7984831 0.9833088 0.9854829 0.8994117 0.9981232 NA NA -0.1506449 -0.1499239 0.9843958 0.9487674 NA -0.1502844 NA FALSE NA 0.007 1.234 . intron_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 1/2 1 NA AAG A,G 8.236e-06 5:177467358 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 intron_variant -0.022262 0.2251 0.12302 0.069865 0.3112616 0.0485171 0.9626856 TRUE 1.21893e-05 ENSE00002341064_018 ENSE00002341064 018 5 176894215 176894384 - 41 78 51 G A 176894360 2499 25 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAACAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 177467358 177467359 177467359 upstr_intron -27 -0.5098039 GGGGTTCCTGGGGCATTCAGCCTGTTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 125 138 0.9736621 1 0.9868311 0.9833088 0.9854829 0.8994117 0.9981232 NA NA 0.07425042 0.001876814 0.9843958 0.9487674 NA 0.03806362 NA FALSE NA 0.009 0.467 . intron_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 1/2 1 NA AGC G,A 8.236e-06 5:177467359 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 intron_variant 0.298348 0.22123 0.25645 0.069865 0.5245854 0.0485171 0.9626856 TRUE NA ENSE00002341064_020 ENSE00002341064 020 5 176894215 176894384 - 41 78 51 C G 176894372 2501 13 ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATACCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCCTGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGGCCCAGGAACCCC 177467213 177467383 177467370 177467371 177467371 upstr_intron -39 -0.745098 GGGGTTCCTGGGCCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT mutant NA NA NA NA NA 188 10 0.8 0.8197648 0.8098824 0.9833088 0.9854829 0.8994117 0.9981232 NA NA -0.09941171 -0.1783584 0.9843958 0.9487674 NA -0.138885 NA FALSE NA 0 0.065 . intron_variant&non_coding_transcript_variant MODIFIER DBN1 HGNC 2695 ENST00000471767 1/2 1 NA GCC C,G 1.647e-05 5:177467371 DBN1 HGNC Symbol protein_coding 17793 ENSG00000113758 ENSE00003537622 intron_variant 0.001389 0.18964 0.1883 0.069865 0.4929912 0.0477649 0.9626856 TRUE 1.62674e-05 ENSE00002341064_BRK ENSE00002341064 BRK 5 176894215 176894384 - 41 78 51 A,G; T,T NA NA NA ATGAGGGGTGGCTCAGCCAGGCCGGGCTCAGGGTTCCATGGCTTGGCCTGCTCCCAGAACTGCTCTCGGTTAATCCGCTTCATTTCCACAGCTGCATCCGTCTTCTGGTAGGTGGTGCCAAGCAGTGTCGAAGGACCCAGCATAAGCAGGCTGAATGCCCCAGGAACCCC 177467213 177467383 NA NA NA NA NA NA GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCTTGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGCCATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT GGGGTTCCTGGGGCATTCAGCCTGCTTATGCTGGGTCCTTCGACACTGCAGGGCACCACCTACCAGAAGACGGATGCAGCTGTGGAAATGAAGCGGATTAACCGAGAGCAGTTCTGGGAGCAGGCCAAGGTATGGAACCCTGAGCCCGGCCTGGCTGAGCCACCCCTCAT control 302 101 0 0 0 225 346 0 0.06986802 0.03493401 0.9833088 0.9854829 0.8994117 0.9981232 -0.9833088 -0.9854829 -0.8994117 -0.9282552 0.9843958 0.9487674 -0.9843958 -0.9138334 0.0705624 TRUE TRUE NA NA NA NA NA DBN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DBN1 NA NA NA ENSG00000113758 ENSE00003537622 NA NA NA NA NA NA NA 0.9626856 TRUE NA ENSE00002341144_000 ENSE00002341144 000 2 178528556 178528725 - 38 84 48 NA NA NA NA NA AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTGATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTACATGTTCTGACTGAA 177663827 177663997 NA NA NA NA NA NA AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTGATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTACATGTTCTGACTGAA AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTGATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTACATGTTCTGACTGAA natural 56 158 0.948396 0.9641937 0.9562948 2370 2118 0.7402734 0.8701098 0.8051916 0.948396 0.9641937 0.7402734 0.8701098 0 0 0 0 0.9562948 0.8051916 0 0 0 FALSE FALSE NA NA NA NA NA PDE11A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE11A NA NA NA ENSG00000128655 ENSE00003813579 NA NA NA NA NA NA NA 4.16725e-31 FALSE NA ENSE00002341396_000 ENSE00002341396 000 1 202536843 202537012 + 63 54 53 NA NA NA NA NA CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 NA NA NA NA NA NA CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT natural NA NA NA NA NA 292 134 0.9917371 0.9735006 0.9826188 NA NA 0.9917371 0.9735006 NA NA 0 0 NA 0.9826188 NA 0 NA FALSE NA NA NA NA NA NA PPP1R12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R12B NA NA NA ENSG00000077157 ENSE00003563501 NA NA NA NA NA NA NA 0.1244546 FALSE NA ENSE00002341396_001 ENSE00002341396 001 1 202536843 202537012 + 63 54 53 C T 202536855 4635 13 CTGGGCGTTCTATTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567726 202567727 202567727 upstr_intron -51 -0.7936508 CTGGGCGTTCTATTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 169 18 1 1 1 NA NA 0.9917371 0.9735006 NA NA 0.00826292 0.02649939 NA 0.9826188 NA 0.01738116 NA FALSE NA 0 -0.76 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 1/3 rs546650238 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACT C,T 3.295e-05 1:202567727 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 intron_variant 0.245686 0.22879 2e-05 0.108992 0.4621241 0.0789395 0.1244546 FALSE 3.26853e-05 ENSE00002341396_002 ENSE00002341396 002 1 202536843 202537012 + 63 54 53 A G 202536864 4636 22 CTGGGCGTTCTACTGGCCCTTGGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567735 202567736 202567736 upstr_intron -42 -0.6507937 CTGGGCGTTCTACTGGCCCTTGGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 103 29 1 1 1 NA NA 0.9917371 0.9735006 NA NA 0.00826292 0.02649939 NA 0.9826188 NA 0.01738116 NA FALSE NA 0.001 0.778 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 1/3 rs374133323 1 NA G:0 G:0.0001 TAG A,G 8.237e-06 1:202567736 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 intron_variant 0.749875 0.26317 7e-05 0.108992 0.6134969 0.131898 0.1244546 FALSE 4.07219e-06 ENSE00002341396_005 ENSE00002341396 005 1 202536843 202537012 + 63 54 53 A G 202536875 4639 33 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAGTAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567746 202567747 202567747 upstr_intron -31 -0.4761905 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAGTAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 248 72 1 1 1 NA NA 0.9917371 0.9735006 NA NA 0.00826292 0.02649939 NA 0.9826188 NA 0.01738116 NA FALSE NA 0.996 1.12 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 1/3 1 NA AAT A,G 8.237e-06 1:202567747 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 intron_variant 0.893413 0.62318 3e-05 0.108992 0.8028563 0.296382 0.1244546 FALSE 4.0663e-06 ENSE00002341396_011 ENSE00002341396 011 1 202536843 202537012 + 63 54 53 G C 202536939 4645 97 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCACTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567810 202567811 202567811 exon -21 0.6296296 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCACTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 10 208 1 0.9992389 0.9996194 NA NA 0.9917371 0.9735006 NA NA 0.00826292 0.02573828 NA 0.9826188 NA 0.0170006 NA FALSE NA 0.104 0.51 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/4 1 NA AGT G,C 1.647e-05 1:202567811 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 missense_variant -0.155026 0.322 9e-05 0.57788 0.715036 0 0.1244546 FALSE 2.03125e-05 ENSE00002341396_013 ENSE00002341396 013 1 202536843 202537012 + 63 54 53 G A 202536944 4647 102 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTAGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567815 202567816 202567816 exon -16 0.7222222 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTAGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 101 172 0.9995918 0.9972314 0.9984116 NA NA 0.9917371 0.9735006 NA NA 0.007854747 0.02373083 NA 0.9826188 NA 0.01579279 NA FALSE NA 1 1.544 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/4 1 NA TGG G,A 2.471e-05 1:202567816 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 synonymous_variant 1.726027 0.9403 0.00262 0.57788 0.852887 0 0.1244546 FALSE 1.21882e-05 ENSE00002341396_014 ENSE00002341396 014 1 202536843 202537012 + 63 54 53 C T 202536957 4648 115 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAATGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567828 202567829 202567829 exon -3 0.962963 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAATGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 165 37 1 1 1 NA NA 0.9917371 0.9735006 NA NA 0.00826292 0.02649939 NA 0.9826188 NA 0.01738116 NA FALSE NA 1 2.389 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PPP1R12B HGNC 7619 ENST00000462074 2/4 1 NA ACG C,T 1.647e-05 1:202567829 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 missense_variant 8.03242 0.95182 0.00211 0.57788 0.9991476 0 0.1244546 FALSE 8.12724e-06 ENSE00002341396_015 ENSE00002341396 015 1 202536843 202537012 + 63 54 53 G A 202536958 4649 116 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACAGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567829 202567830 202567830 exon -2 0.9814815 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACAGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 221 310 1 1 1 NA NA 0.9917371 0.9735006 NA NA 0.00826292 0.02649939 NA 0.9826188 NA 0.01738116 NA FALSE NA 1 5.865 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PPP1R12B HGNC 7619 ENST00000462074 2/4 rs375768989 1 NA A:0 A:0.0001 CGG G,A 1.647e-05 1:202567830 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 missense_variant 7.791917 0.97545 0.00766 0.57788 0.9994287 0 0.1244546 FALSE 1.21916e-05 ENSE00002341396_020 ENSE00002341396 020 1 202536843 202537012 + 63 54 53 T C 202536975 4654 133 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGCTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567846 202567847 202567847 downstr_intron 16 1.307692 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGCTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 686 43 0.9989757 1 0.9994878 NA NA 0.9917371 0.9735006 NA NA 0.007238596 0.02649939 NA 0.9826188 NA 0.01686899 NA FALSE NA 0.007 -0.098 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/3 1 NA GTT T,C 8.237e-06 1:202567847 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 intron_variant -0.299884 0.34901 0.00013 0.108992 0.4164645 0.134683 0.1244546 FALSE NA ENSE00002341396_021 ENSE00002341396 021 1 202536843 202537012 + 63 54 53 T C 202536976 4655 134 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTCTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567847 202567848 202567848 downstr_intron 17 1.326923 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTCTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 326 76 1 1 1 NA NA 0.9917371 0.9735006 NA NA 0.00826292 0.02649939 NA 0.9826188 NA 0.01738116 NA FALSE NA 0.008 1.492 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/3 rs372095219 1 NA C:0 C:0.0003 TTT T,C 0.0002471 1:202567848 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 intron_variant -0.165399 0.26293 8e-05 0.108992 0.4160175 0.161076 0.1244546 FALSE 0.000183041 ENSE00002341396_022 ENSE00002341396 022 1 202536843 202537012 + 63 54 53 C T 202536980 4656 138 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCTCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 202567851 202567852 202567852 downstr_intron 21 1.403846 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCTCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 27 81 1 1 1 NA NA 0.9917371 0.9735006 NA NA 0.00826292 0.02649939 NA 0.9826188 NA 0.01738116 NA FALSE NA 0.001 0.24 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/3 rs375391370 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0001 CCC C,T 0.0002965 1:202567852 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 intron_variant 0.49338 0.36987 3e-05 0.108992 0.6525744 0.161076 0.1244546 FALSE 0.000240169 ENSE00002341396_024 ENSE00002341396 024 1 202536843 202537012 + 63 54 53 T A 202537001 4658 159 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCATCTTTCTGACT 202567714 202567884 202567872 202567873 202567873 downstr_intron 42 1.807692 CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCATCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT mutant NA NA NA NA NA 328 117 0.8 0.9862366 0.8931183 NA NA 0.9917371 0.9735006 NA NA -0.1917371 0.01273602 NA 0.9826188 NA -0.08950053 NA FALSE NA 0 0.401 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/3 1 NA CTT T,A 8.237e-06 1:202567873 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003563501 intron_variant 1.024237 0.30603 0.00015 0.126639 0.8204615 0.298846 0.1244546 FALSE 4.09944e-06 ENSE00002341396_BRK ENSE00002341396 BRK 1 202536843 202537012 + 63 54 53 A,G; T,T NA NA NA CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCTTCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGCCATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT 202567714 202567884 NA NA NA NA NA NA CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCTTCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGCCATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT CTGGGCGTTCTACTGGCCCTTAGACAACTTAAATAACAACTGTTTTCCTTCCATTTGCACCAGCAGAAACAAGAAAAGACCTCTGACCGATCATCAGTGCTGGAGATGGAGAAACGGGTATGCGCATGTCTGTTTCCCCCTCCACCCCATTTCATCTCTTCTTTCTGACT control 14 19 0 0 0 NA NA NA NA NA NA NA 0.9917371 0.9735006 NA NA NA NA NA 0.9826188 NA NA NA NA NA NA NA NA NA NA PPP1R12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R12B NA NA NA ENSG00000077157 ENSE00003563501 NA NA NA NA NA NA NA 0.1244546 FALSE NA ENSE00002342177_000 ENSE00002342177 000 2 176044787 176044956 - 39 81 50 NA NA NA NA NA ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAGTTGCATACAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA 175180058 175180228 NA NA NA NA NA NA ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAGTTGCATACAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAGTTGCATACAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA natural NA NA NA NA NA 2167 839 0.9622514 1 0.9811257 NA NA 0.9622514 1 NA NA 0 0 NA 0.9811257 NA 0 NA FALSE NA NA NA NA NA NA ATP5G3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP5MC3 NA NA NA ENSG00000154518 ENSE00003602002 NA NA NA NA NA NA NA NA NA NA ENSE00002342177_014 ENSE00002342177 014 2 176044787 176044956 - 39 81 50 G A 176044880 3301 77 ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAGTTGCATATAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA 175180058 175180228 175180151 175180152 175180152 exon 27 0.3333333 ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAGTTGCATATAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAGTTGCATACAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA mutant NA NA NA NA NA 100 142 0.8128147 0.9626078 0.8877113 NA NA 0.9622514 1 NA NA -0.1494367 -0.03739218 NA 0.9811257 NA -0.09341445 NA FALSE NA 1 6.037 . synonymous_variant LOW ATP5G3 HGNC 843 ENST00000409194 3/5 rs543134495 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 0.0004859 2:175180152 ATP5MC3 HGNC Symbol protein_coding 8349 ENSG00000154518 ENSE00003602002 synonymous_variant 0.728893 0.97021 0.97506 0.736574 0.888611 0 NA NA 0.000451201 ENSE00002342177_015 ENSE00002342177 015 2 176044787 176044956 - 39 81 50 C T 176044888 3302 69 ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAATTGCATACAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA 175180058 175180228 175180159 175180160 175180160 exon 19 0.2345679 ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAATTGCATACAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA ACCTGTATTCTTTCTTAATATTGAAATCTTTATTTTTTTTTCATTAATAGATCCGAGCTGGATCCAGAGTTGCATACAGACCAATTTCTGCATCAGTGTTATCTCGACCAGAGGCTAGTAGGACTGGAGAGGTAATAGTAGCAATAATTGAAATTAGGTAACACTACCAA mutant NA NA NA NA NA 48 78 1 1 1 NA NA 0.9622514 1 NA NA 0.03774858 0 NA 0.9811257 NA 0.01887429 NA FALSE NA 1 1.294 . missense_variant MODERATE ATP5G3 HGNC 843 ENST00000409194 3/5 1 tolerated(0.28) benign(0.002) NA ACT C,T 8.236e-06 2:175180160 ATP5MC3 HGNC Symbol protein_coding 8349 ENSG00000154518 ENSE00003602002 missense_variant 2.684991 0.93256 0.92624 0.736574 0.9757261 0 NA NA 4.37407e-06 ENSE00002342276_000 ENSE00002342276 000 17 79596712 79596881 - 39 81 50 NA NA NA NA NA GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 NA NA NA NA NA NA TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC natural 80 102 0.9973384 0.9963118 0.9968251 4133 3580 0.9701281 0.9898944 0.9800113 0.9973384 0.9963118 0.9701281 0.9898944 0 0 0 0 0.9968251 0.9800113 0 0 0 FALSE FALSE NA NA NA NA NA NPLOC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPLOC4 NA NA NA ENSG00000182446 ENSE00003648911 NA NA NA NA NA NA NA 0.9986975 TRUE NA ENSE00002342276_002 ENSE00002342276 002 17 79596712 79596881 - 39 81 50 G T 79596728 3487 154 GAAAAATATCCTGAGGTTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629701 81629702 81629702 downstr_intron 23 1.605263 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGAACCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant 67 23 0.9916294 0.9958213 0.9937254 13 322 0.8544221 1 0.927211 0.9973384 0.9963118 0.9701281 0.9898944 -0.005708948 -0.0004904565 -0.1157061 0.01010556 0.9968251 0.9800113 -0.003099702 -0.05280025 0.04970055 FALSE FALSE 0 -0.843 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 2/15 1 NA GGT G,T 8.273e-06 17:81629702 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant -0.155495 0.11673 0.01378 0.295142 0.5608917 0.0491918 0.9986975 TRUE 4.06289e-06 ENSE00002342276_003 ENSE00002342276 003 17 79596712 79596881 - 39 81 50 T C 79596733 3488 149 GAAAAATATCCTGAGGGTCAACACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629706 81629707 81629707 downstr_intron 18 1.473684 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTGTTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant 15 13 1 0.9984985 0.9992493 NA NA NA NA NA 0.9973384 0.9963118 0.9701281 0.9898944 0.002661628 0.002186761 NA NA 0.9968251 0.9800113 0.002424194 NA NA NA FALSE 0 -1.442 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 2/15 1 NA ATA T,C 4.964e-05 17:81629707 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant -0.757396 0.04332 0.00031 0.295142 0.2315202 0.0491918 0.9986975 TRUE 4.0622e-05 ENSE00002342276_004 ENSE00002342276 004 17 79596712 79596881 - 39 81 50 C T 79596744 3489 138 GAAAAATATCCTGAGGGTCAATACCCAGGCCATAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629717 81629718 81629718 downstr_intron 7 1.184211 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTATGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 36 579 0.9965192 1 0.9982596 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02639109 0.01010556 0.9968251 0.9800113 NA 0.01824833 NA FALSE NA 0 -0.672 . splice_region_variant&intron_variant LOW NPLOC4 HGNC 18261 ENST00000374747 2/15 1 NA ACA C,T 8.272e-06 17:81629718 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 splice_region_variant 0.691069 0.09436 0.0388 0.295142 0.6526614 0.113183 0.9986975 TRUE 4.06147e-06 ENSE00002342276_005 ENSE00002342276 005 17 79596712 79596881 - 39 81 50 G A 79596746 3490 136 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAAATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629719 81629720 81629720 downstr_intron 5 1.131579 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATTTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 627 1482 0.9992097 0.8438082 0.9215089 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02908155 -0.1460863 0.9968251 0.9800113 NA -0.05850235 NA FALSE NA 0.083 0.146 . splice_region_variant&intron_variant LOW NPLOC4 HGNC 18261 ENST00000374747 2/15 1 NA AGA G,A 8.272e-06 17:81629720 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 splice_region_variant 0.75123 0.14643 0.0293 0.295142 0.6040676 0.113183 0.9986975 TRUE 4.06144e-06 ENSE00002342276_006 ENSE00002342276 006 17 79596712 79596881 - 39 81 50 T C 79596763 3491 119 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAACGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629736 81629737 81629737 exon -13 0.8518519 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACGTTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 278 323 0.9994483 1 0.9997242 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02932017 0.01010556 0.9968251 0.9800113 NA 0.01971287 NA FALSE NA 0 -3.799 . synonymous_variant LOW NPLOC4 HGNC 18261 ENST00000374747 2/16 1 NA ATG T,C 1.654e-05 17:81629737 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 synonymous_variant 0.91435 0.46468 0.02068 0.706548 0.6425859 0 0.9986975 TRUE 8.12282e-06 ENSE00002342276_007 ENSE00002342276 007 17 79596712 79596881 - 39 81 50 C G 79596796 3492 86 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATGCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629769 81629770 81629770 exon 36 0.4444444 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGCATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 296 1207 1 0.9992715 0.9996357 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02987185 0.009377057 0.9968251 0.9800113 NA 0.01962445 NA FALSE NA 0.997 0.191 . synonymous_variant LOW NPLOC4 HGNC 18261 ENST00000374747 2/16 1 NA TCC C,G 1.653e-05 17:81629770 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 synonymous_variant 1.798867 0.93395 0.62409 0.706548 0.6758583 0 0.9986975 TRUE 1.62447e-05 ENSE00002342276_009 ENSE00002342276 009 17 79596712 79596881 - 39 81 50 T C 79596805 3494 77 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACCCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629778 81629779 81629779 exon 27 0.3333333 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGGGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 98 1517 0.979357 0.9942923 0.9868246 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.009228814 0.004397895 0.9968251 0.9800113 NA 0.006813355 NA FALSE NA 0.246 -0.617 . synonymous_variant LOW NPLOC4 HGNC 18261 ENST00000374747 2/16 1 NA CTC T,C 8.267e-06 17:81629779 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 synonymous_variant 0.034239 0.9178 0.08046 0.706548 0.6569801 0 0.9986975 TRUE 4.06124e-06 ENSE00002342276_010 ENSE00002342276 010 17 79596712 79596881 - 39 81 50 C T 79596811 3495 71 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCTGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629784 81629785 81629785 exon 21 0.2592593 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCAGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 1163 76 0.9949546 0.9994977 0.9972261 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.0248264 0.009603237 0.9968251 0.9800113 NA 0.01721482 NA FALSE NA 0 -3.101 rs9894429 synonymous_variant LOW NPLOC4 HGNC 18261 ENST00000374747 2/16 rs9894429&COSM3756029&COSM3756030 1 C:0.3259 T:0.8147 T:0.6758 NA T:0.7768 T:0.4115 T:0.6472 T:0.7575 T:0.4618 CCG C,T 0.555 17:81629785 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 synonymous_variant 1.688171 0.4175 0.00897 0.706548 0.715102 0 0.9986975 TRUE 0.556863 ENSE00002342276_011 ENSE00002342276 011 17 79596712 79596881 - 39 81 50 G C 79596813 3496 69 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGCGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629786 81629787 81629787 exon 19 0.2345679 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCGCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 702 520 1 1 1 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02987185 0.01010556 0.9968251 0.9800113 NA 0.01998871 NA FALSE NA 1 7.476 . missense_variant MODERATE NPLOC4 HGNC 18261 ENST00000374747 2/16 1 tolerated(0.19) possibly_damaging(0.55) NA GGG G,C 8.267e-06 17:81629787 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 missense_variant 3.738218 0.98235 0.97808 0.706548 0.9772442 0 0.9986975 TRUE 4.06151e-06 ENSE00002342276_012 ENSE00002342276 012 17 79596712 79596881 - 39 81 50 C A 79596817 3497 65 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGAATGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629790 81629791 81629791 exon 15 0.1851852 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCATTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant 53 12 1 1 1 179 329 1 1 1 0.9973384 0.9963118 0.9701281 0.9898944 0.002661628 0.003688239 0.02987185 0.01010556 0.9968251 0.9800113 0.003174934 0.01998871 0.01681377 FALSE FALSE 1 2.558 . missense_variant MODERATE NPLOC4 HGNC 18261 ENST00000374747 2/16 1 deleterious(0) probably_damaging(0.998) NA ACT C,A 8.266e-06 17:81629791 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 missense_variant 6.419886 0.96989 0.91948 0.706548 0.997333 0 0.9986975 TRUE 4.06164e-06 ENSE00002342276_013 ENSE00002342276 013 17 79596712 79596881 - 39 81 50 T C 79596828 3498 54 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAACTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629801 81629802 81629802 exon 4 0.04938272 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAGTTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 384 746 0.9915113 0.999949 0.9957301 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02138313 0.01005453 0.9968251 0.9800113 NA 0.01571883 NA FALSE NA 1 3.45 . missense_variant MODERATE NPLOC4 HGNC 18261 ENST00000374747 2/16 1 tolerated(0.29) benign(0.044) NA ATT T,C 8.266e-06 17:81629802 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 missense_variant 1.200909 0.94866 0.82705 0.706548 0.9756927 0 0.9986975 TRUE 4.06266e-06 ENSE00002342276_014 ENSE00002342276 014 17 79596712 79596881 - 39 81 50 G A 79596837 3499 45 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTACAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629810 81629811 81629811 upstr_intron -6 -0.1 TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGTAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 261 518 0.9946776 0.9996946 0.9971861 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.0245495 0.009800126 0.9968251 0.9800113 NA 0.01717481 NA FALSE NA 0 0.297 rs75782971 splice_region_variant&intron_variant LOW NPLOC4 HGNC 18261 ENST00000374747 1/15 rs75782971 1 A:0.0010 A:0 A:0 NA A:0.005 A:0 A:0 TGC G,A 0.0003637 17:81629811 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 splice_region_variant 1.42384 0.90498 0.12584 0.099367 0.7534225 0.371938 0.9986975 TRUE 0.000353457 ENSE00002342276_016 ENSE00002342276 016 17 79596712 79596881 - 39 81 50 T G 79596849 3501 33 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACAGGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629822 81629823 81629823 upstr_intron -18 -0.34 TCAGGACCTCACTAGGCTGTGCAGTAACCATCCTGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 902 441 0.9775923 0.9351189 0.9563556 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.007464154 -0.05477558 0.9968251 0.9800113 NA -0.02365571 NA FALSE NA 0.143 0.759 NA NA NA NPLOC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:81629823 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant 1.051805 0.50324 0.08079 0.099367 0.7809655 0.230167 0.9986975 TRUE 8.12638e-06 ENSE00002342276_017 ENSE00002342276 017 17 79596712 79596881 - 39 81 50 A G 79596851 3502 31 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGGTGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629824 81629825 81629825 upstr_intron -20 -0.38 TCAGGACCTCACTAGGCTGTGCAGTAACCACCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 492 760 1 0.9973997 0.9986999 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02987185 0.007505281 0.9968251 0.9800113 NA 0.01868857 NA FALSE NA 0.006 0.32 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 1/15 1 NA GAT A,G 8.268e-06 17:81629825 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant 1.165259 0.12232 0.06309 0.099367 0.7713934 0.230167 0.9986975 TRUE 4.06332e-06 ENSE00002342276_019 ENSE00002342276 019 17 79596712 79596881 - 39 81 50 G A 79596854 3504 28 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGATTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629827 81629828 81629828 upstr_intron -23 -0.44 TCAGGACCTCACTAGGCTGTGCAGTAATCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 275 421 1 0.8925847 0.9462923 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02987185 -0.09730976 0.9968251 0.9800113 NA -0.03371896 NA FALSE NA 0.002 1.141 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 1/15 rs373374615 1 NA A:0 A:0.0001 GGT G,A 4.134e-05 17:81629828 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant 2.458104 0.96703 0.41583 0.099367 0.9135508 0.786303 0.9986975 TRUE 5.68995e-05 ENSE00002342276_020 ENSE00002342276 020 17 79596712 79596881 - 39 81 50 T C 79596859 3505 23 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACCGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 81629832 81629833 81629833 upstr_intron -28 -0.54 TCAGGACCTCACTAGGCTGTGCGGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 557 1169 0.993709 0.9961262 0.9949176 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02358086 0.006231789 0.9968251 0.9800113 NA 0.01490632 NA FALSE NA 0 -0.135 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 1/15 1 NA CTG T,C 8.268e-06 17:81629833 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant 2.080931 0.70892 0.11815 0.099367 0.8649304 0.310012 0.9986975 TRUE 4.06504e-06 ENSE00002342276_021 ENSE00002342276 021 17 79596712 79596881 - 39 81 50 A G 79596862 3506 20 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCGCAGCCTAGTGAGGTCCTGA 81629685 81629855 81629835 81629836 81629836 upstr_intron -31 -0.6 TCAGGACCTCACTAGGCTGCGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 109 142 1 0.9988846 0.9994423 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02987185 0.008990175 0.9968251 0.9800113 NA 0.01943101 NA FALSE NA 0 -0.077 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 1/15 1 NA CAC A,G 8.269e-06 17:81629836 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant 1.992847 0.11107 0.03483 0.099367 0.7781321 0.18903 0.9986975 TRUE 8.13054e-06 ENSE00002342276_022 ENSE00002342276 022 17 79596712 79596881 - 39 81 50 C T 79596863 3507 19 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCATAGCCTAGTGAGGTCCTGA 81629685 81629855 81629836 81629837 81629837 upstr_intron -32 -0.62 TCAGGACCTCACTAGGCTATGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 838 542 0.9927494 0.977037 0.9848932 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02262125 -0.01285743 0.9968251 0.9800113 NA 0.004881911 NA FALSE NA 0 -0.357 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 1/15 1 NA ACA C,T 1.654e-05 17:81629837 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant 1.858368 0.10091 0.03244 0.099367 0.8776096 0.18903 0.9986975 TRUE 1.2203e-05 ENSE00002342276_023 ENSE00002342276 023 17 79596712 79596881 - 39 81 50 C T 79596866 3508 16 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGTCTAGTGAGGTCCTGA 81629685 81629855 81629839 81629840 81629840 upstr_intron -35 -0.68 TCAGGACCTCACTAGACTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 288 591 0.9856885 0.996848 0.9912682 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.01556039 0.006953515 0.9968251 0.9800113 NA 0.01125695 NA FALSE NA 0 -0.167 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 1/15 1 NA GCC C,T 8.269e-06 17:81629840 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant 1.573934 0.13845 0.05756 0.099367 0.869089 0.18903 0.9986975 TRUE 4.0828e-06 ENSE00002342276_024 ENSE00002342276 024 17 79596712 79596881 - 39 81 50 G T 79596870 3509 12 GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATACCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATCTGTTGCAAACAAAACATGATGGTTACTGCACAGCCTATTGAGGTCCTGA 81629685 81629855 81629843 81629844 81629844 upstr_intron -39 -0.76 TCAGGACCTCAATAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC mutant NA NA NA NA NA 816 645 0.9999496 0.9982703 0.99911 0.9973384 0.9963118 0.9701281 0.9898944 NA NA 0.02982141 0.008375911 0.9968251 0.9800113 NA 0.01909866 NA FALSE NA 0 0.024 . intron_variant MODIFIER NPLOC4 HGNC 18261 ENST00000374747 1/15 rs376640033 1 NA T:0.0013 T:0 AGT G,T 0.000124 17:81629844 NPLOC4 HGNC Symbol protein_coding 91578 ENSG00000182446 ENSE00003648911 intron_variant 0.842735 0.12285 0.0481 0.099367 0.8385725 0.0537924 0.9986975 TRUE 0.000102252 ENSE00002342276_BRK ENSE00002342276 BRK 17 79596712 79596881 - 39 81 50 A,G; T,T NA NA NA GAAAAATATCCTGAGGGTCAATACCCAGGCCACAGATGGCTTTTTCAAAAATGTTGCTGCTGTTTCTCTCTTTGTTGCTGTGATCCGCTTCACTCCATCCGGGGACTGGACACGAATTATAAGTTGCAAACAAAACATGATGGTTACTGCACAGCCTAGTGAGGTCCTGA 81629685 81629855 NA NA NA NA NA NA TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACTTATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGCCATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC TCAGGACCTCACTAGGCTGTGCAGTAACCATCATGTTTTGTTTGCAACAGATAATTCGTGTCCAGTCCCCGGATGGAGTGAAGCGGATCACAGCAACAAAGAGAGAAACAGCAGCAACATTTTTGAAAAAGGTATCTGTGGCCTGGGTATTGACCCTCAGGATATTTTTC control 22 11 0 0 0 NA NA NA NA NA 0.9973384 0.9963118 0.9701281 0.9898944 -0.9973384 -0.9963118 NA NA 0.9968251 0.9800113 -0.9968251 NA NA NA TRUE NA NA NA NA NA NPLOC4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NPLOC4 NA NA NA ENSG00000182446 ENSE00003648911 NA NA NA NA NA NA NA 0.9986975 TRUE NA ENSE00002342470_000 ENSE00002342470 000 3 194313707 194313876 - 63 33 74 NA NA NA NA NA CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 NA NA NA NA NA NA CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG natural 453 615 0.85 0.8427871 0.8463936 2669 1902 0.8056226 0.6907274 0.748175 0.85 0.8427871 0.8056226 0.6907274 0 0 0 0 0.8463936 0.748175 0 0 0 FALSE FALSE NA NA NA NA NA TMEM44 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM44 NA NA NA ENSG00000145014 ENSE00003520253 NA NA NA NA NA NA NA 1.194242e-06 FALSE NA ENSE00002342470_003 ENSE00002342470 003 3 194313707 194313876 - 63 33 74 G C 194313752 4220 125 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTGTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593022 194593023 194593023 downstr_intron 18 1.290323 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTGTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 229 1301 0.8661184 0.8063068 0.8362126 0.85 0.8427871 0.8056226 0.6907274 NA NA 0.06049583 0.1155794 0.8463936 0.748175 NA 0.08803761 NA FALSE NA 0 -0.64 . intron_variant MODIFIER TMEM44 HGNC 25120 ENST00000432352 5/5 1 NA AGA G,C 1.647e-05 3:194593023 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 intron_variant -0.019664 0.09354 0.2019 0.114469 0.5145871 0.176736 1.194242e-06 FALSE 1.2184e-05 ENSE00002342470_005 ENSE00002342470 005 3 194313707 194313876 - 63 33 74 A G 194313756 4222 121 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCACGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593026 194593027 194593027 downstr_intron 14 1.225806 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCACGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 36 86 0.9780027 0.8 0.8890013 0.85 0.8427871 0.8056226 0.6907274 NA NA 0.1723801 0.1092726 0.8463936 0.748175 NA 0.1408263 NA FALSE NA 0 0.172 . intron_variant MODIFIER TMEM44 HGNC 25120 ENST00000432352 5/5 1 NA CAT A,G 1.647e-05 3:194593027 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 intron_variant 0.148702 0.09033 0.25272 0.114469 0.585841 0.175554 1.194242e-06 FALSE 1.21838e-05 ENSE00002342470_006 ENSE00002342470 006 3 194313707 194313876 - 63 33 74 G C 194313758 4223 119 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATGATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593028 194593029 194593029 downstr_intron 12 1.193548 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATGATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 438 136 0.9242868 0.8 0.8621434 0.85 0.8427871 0.8056226 0.6907274 NA NA 0.1186642 0.1092726 0.8463936 0.748175 NA 0.1139684 NA FALSE NA 0.006 0.241 rs143297948 intron_variant MODIFIER TMEM44 HGNC 25120 ENST00000432352 5/5 rs143297948 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 TGA G,C 0.0002636 3:194593029 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 intron_variant 0.076705 0.11325 0.44199 0.114469 0.5813386 0.148032 1.194242e-06 FALSE 0.000300547 ENSE00002342470_007 ENSE00002342470 007 3 194313707 194313876 - 63 33 74 G A 194313762 4224 115 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGATGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593032 194593033 194593033 downstr_intron 8 1.129032 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGATGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 536 608 0.6717202 0.8004158 0.736068 0.85 0.8427871 0.8056226 0.6907274 NA NA -0.1339024 0.1096884 0.8463936 0.748175 NA -0.01210701 NA FALSE NA 0.804 0.943 . splice_region_variant&intron_variant LOW TMEM44 HGNC 25120 ENST00000432352 5/5 1 NA CGT G,A 8.236e-06 3:194593033 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 splice_region_variant 0.780825 0.59455 0.84182 0.114469 0.6938961 0.35155 1.194242e-06 FALSE 2.03064e-05 ENSE00002342470_008 ENSE00002342470 008 3 194313707 194313876 - 63 33 74 C T 194313765 4225 112 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATAGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593035 194593036 194593036 downstr_intron 5 1.080645 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATAGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 88 2123 0.02232412 0.003944293 0.01313421 0.85 0.8427871 0.8056226 0.6907274 NA NA -0.7832985 -0.6867831 0.8463936 0.748175 NA -0.7350408 NA TRUE NA 1 3.321 . splice_region_variant&intron_variant LOW TMEM44 HGNC 25120 ENST00000432352 5/5 1 NA CCA C,T 8.236e-06 3:194593036 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 splice_region_variant 1.375535 0.81335 0.92376 0.114469 0.7547331 0.49772 1.194242e-06 FALSE 4.06121e-06 ENSE00002342470_011 ENSE00002342470 011 3 194313707 194313876 - 63 33 74 C T 194313776 4228 101 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCAGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593046 194593047 194593047 exon -7 0.8181818 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCAGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 35 312 0.2091239 0.314601 0.2618624 0.85 0.8427871 0.8056226 0.6907274 NA NA -0.5964987 -0.3761265 0.8463936 0.748175 NA -0.4863126 NA FALSE NA 0.998 0.118 . synonymous_variant LOW TMEM44 HGNC 25120 ENST00000432352 5/6 1 NA CCG C,T 5.765e-05 3:194593047 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 synonymous_variant 1.893364 0.61695 0.68185 0.615465 0.8443081 0 1.194242e-06 FALSE 5.27979e-05 ENSE00002342470_012 ENSE00002342470 012 3 194313707 194313876 - 63 33 74 G C 194313784 4229 93 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCGTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593054 194593055 194593055 exon -15 0.5757576 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCGTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 30 21 0.9323809 0.9425929 0.9374869 0.85 0.8427871 0.8056226 0.6907274 NA NA 0.1267583 0.2518654 0.8463936 0.748175 NA 0.1893119 NA FALSE NA 1 1.841 . missense_variant MODERATE TMEM44 HGNC 25120 ENST00000432352 5/6 1 deleterious(0.04) possibly_damaging(0.567) NA AGG G,C 1.647e-05 3:194593055 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 missense_variant 1.763208 0.81988 0.92045 0.615465 0.9961298 0 1.194242e-06 FALSE 1.2185e-05 ENSE00002342470_014 ENSE00002342470 014 3 194313707 194313876 - 63 33 74 A G 194313793 4231 84 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATCGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593063 194593064 194593064 exon 10 0.3030303 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATCGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 516 353 0.9912557 0.9995517 0.9954037 0.85 0.8427871 0.8056226 0.6907274 NA NA 0.1856331 0.3088243 0.8463936 0.748175 NA 0.2472287 NA FALSE NA 1 2.396 . missense_variant MODERATE TMEM44 HGNC 25120 ENST00000432352 5/6 1 tolerated(0.1) possibly_damaging(0.781) NA CAA A,G 8.237e-06 3:194593064 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 missense_variant 1.963331 0.85311 0.92869 0.615465 0.9917399 0 1.194242e-06 FALSE 4.06174e-06 ENSE00002342470_015 ENSE00002342470 015 3 194313707 194313876 - 63 33 74 C T 194313800 4232 77 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAAAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593070 194593071 194593071 exon 3 0.09090909 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAAAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 80 827 0.8520915 0.821849 0.8369702 0.85 0.8427871 0.8056226 0.6907274 NA NA 0.04646886 0.1311215 0.8463936 0.748175 NA 0.08879519 NA FALSE NA 0.99 -0.163 rs150713705 splice_region_variant&synonymous_variant LOW TMEM44 HGNC 25120 ENST00000432352 5/6 rs150713705 1 NA T:0 T:0.0006 TCT C,T 0.0003377 3:194593071 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 splice_acceptor_variant 2.176177 0.74876 0.74005 0.615465 0.8729349 0 1.194242e-06 FALSE 0.000304623 ENSE00002342470_016 ENSE00002342470 016 3 194313707 194313876 - 63 33 74 C A 194313806 4233 71 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTTCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593076 194593077 194593077 upstr_intron -4 -0.04054054 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTTCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 284 457 0.0477432 0.0007004796 0.02422184 0.85 0.8427871 0.8056226 0.6907274 NA NA -0.7578794 -0.690027 0.8463936 0.748175 NA -0.7239532 NA TRUE NA 1 1.232 . splice_region_variant&intron_variant LOW TMEM44 HGNC 25120 ENST00000432352 4/5 1 NA GCA C,A 8.237e-06 3:194593077 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 splice_region_variant 1.987716 0.80752 0.89886 0.119485 0.8426765 0.523224 1.194242e-06 FALSE 4.0622e-06 ENSE00002342470_017 ENSE00002342470 017 3 194313707 194313876 - 63 33 74 A G 194313813 4234 64 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTCTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593083 194593084 194593084 upstr_intron -11 -0.1351351 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTCTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 894 85 0.6368153 0.5998586 0.618337 0.85 0.8427871 0.8056226 0.6907274 NA NA -0.1688073 -0.09086881 0.8463936 0.748175 NA -0.129838 NA FALSE NA 1 1.513 . intron_variant MODIFIER TMEM44 HGNC 25120 ENST00000432352 4/5 1 NA AAA A,G 8.237e-06 3:194593084 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 intron_variant 1.498553 0.85935 0.92202 0.119485 0.8165929 0.864454 1.194242e-06 FALSE 4.06217e-06 ENSE00002342470_020 ENSE00002342470 020 3 194313707 194313876 - 63 33 74 A G 194313827 4237 50 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTCTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593097 194593098 194593098 upstr_intron -25 -0.3243243 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTCTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 578 47 0.8327153 0.9932097 0.9129625 0.85 0.8427871 0.8056226 0.6907274 NA NA 0.02709272 0.3024823 0.8463936 0.748175 NA 0.1647875 NA FALSE NA 0.03 0.523 . intron_variant MODIFIER TMEM44 HGNC 25120 ENST00000432352 4/5 1 NA AAA A,G 8.236e-06 3:194593098 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 intron_variant -0.260496 0.11797 0.23465 0.114469 0.5222804 0.148208 1.194242e-06 FALSE 4.06312e-06 ENSE00002342470_021 ENSE00002342470 021 3 194313707 194313876 - 63 33 74 A C 194313830 4238 47 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACGTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593100 194593101 194593101 upstr_intron -28 -0.3648649 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACGTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 320 98 0.8 0.8 0.8 0.85 0.8427871 0.8056226 0.6907274 NA NA -0.005622607 0.1092726 0.8463936 0.748175 NA 0.05182498 NA FALSE NA 0.019 0.288 . intron_variant MODIFIER TMEM44 HGNC 25120 ENST00000432352 4/5 1 NA AAG A,C 8.236e-06 3:194593101 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 intron_variant -0.546134 0.12056 0.23926 0.114469 0.5258525 0.148208 1.194242e-06 FALSE 4.06339e-06 ENSE00002342470_022 ENSE00002342470 022 3 194313707 194313876 - 63 33 74 T C 194313832 4239 45 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACGCTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593102 194593103 194593103 upstr_intron -30 -0.3918919 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACGCTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 745 305 0.8457194 0.7934686 0.819594 0.85 0.8427871 0.8056226 0.6907274 NA NA 0.04009676 0.1027412 0.8463936 0.748175 NA 0.07141897 NA FALSE NA 0.026 -0.742 rs1773184 intron_variant MODIFIER TMEM44 HGNC 25120 ENST00000432352 4/5 rs1773184 1 T:0.0509 C:0.9554 C:0.951 NA C:0.9702 C:0.9105 C:0.9571 C:0.9494 C:0.903 GTG C,C 0.924 3:194593103 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 intron_variant -0.227403 0.08 0.12375 0.114469 0.4949422 0.148208 1.194242e-06 FALSE 0.922533 ENSE00002342470_023 ENSE00002342470 023 3 194313707 194313876 - 63 33 74 G A 194313833 4240 44 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAATACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG 194592977 194593147 194593103 194593104 194593104 upstr_intron -31 -0.4054054 CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAATACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG CTGAGCTCTGCTCTGCTGTGGGATGGTGGCAAAATCTGTCCAACACTTTTTCTGTCTCTCTTTTTATTCTGCAGCAGAAGTATTGGGAGGCCCTAAACTCGGAGCAGGTATGGACGATCATGCTCTTTCTCTTCCAGGAGGGACTTCCTATGGCTTGATTTCAGTTCCTG mutant NA NA NA NA NA 577 1486 0.004192917 0.01549814 0.009845528 0.85 0.8427871 0.8056226 0.6907274 NA NA -0.8014297 -0.6752293 0.8463936 0.748175 NA -0.7383295 NA TRUE NA 0.707 1.143 . intron_variant MODIFIER TMEM44 HGNC 25120 ENST00000432352 4/5 1 NA TGT G,A 6.589e-05 3:194593104 TMEM44 HGNC Symbol protein_coding 46016 ENSG00000145014 ENSE00003520253 intron_variant 0.189843 0.2313 0.67714 0.114469 0.533904 0.148208 1.194242e-06 FALSE 4.87757e-05 ENSE00002342710_000 ENSE00002342710 000 8 146003788 146003957 - 36 87 47 NA NA NA NA NA AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 NA NA NA NA NA NA AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT natural 801 956 0.7708674 0.7897724 0.7803199 2895 5042 0.7229487 0.8990802 0.8110145 0.7708674 0.7897724 0.7229487 0.8990802 0 0 0 0 0.7803199 0.8110145 0 0 0 FALSE FALSE NA NA NA NA NA ZNF34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF34 NA NA NA ENSG00000196378 ENSE00003518087 NA NA NA NA NA NA NA 0.2461106 FALSE NA ENSE00002342710_001 ENSE00002342710 001 8 146003788 146003957 - 36 87 47 C T 146003800 3076 158 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGAAGTGAAGTTTTT 144778402 144778572 144778414 144778415 144778415 downstr_intron 24 1.685714 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGAAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 365 65 0.9094617 0.9332875 0.9213746 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.1865129 0.03420723 0.7803199 0.8110145 NA 0.1103601 NA FALSE NA 0 -0.973 . intron_variant MODIFIER ZNF34 HGNC 13098 ENST00000534445 3/4 1 NA TCC C,T 1.673e-05 8:144778415 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 non_coding_transcript_exon_variant 0.101313 0.10096 0.01496 0.099367 0.5884874 0.046382 0.2461106 FALSE 2.20352e-05 ENSE00002342710_002 ENSE00002342710 002 8 146003788 146003957 - 36 87 47 G T 146003827 3077 131 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCACAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778441 144778442 144778442 exon -4 0.9655172 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCACAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 104 315 1 0.9953927 0.9976963 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.2770513 0.09631246 0.7803199 0.8110145 NA 0.1866819 NA FALSE NA 0 1.24 . synonymous_variant LOW ZNF34 HGNC 13098 ENST00000534445 3/5 1 NA GGG G,T 2.493e-05 8:144778442 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 synonymous_variant -0.345318 0.23378 0.59556 0.562547 0.4694494 0 0.2461106 FALSE NA ENSE00002342710_003 ENSE00002342710 003 8 146003788 146003957 - 36 87 47 C T 146003845 3078 113 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTATTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778459 144778460 144778460 exon -22 0.7586207 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTATTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 902 413 0.801785 0.9653328 0.8835589 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.07883621 0.0662526 0.7803199 0.8110145 NA 0.07254441 NA FALSE NA 0 0.385 . synonymous_variant LOW ZNF34 HGNC 13098 ENST00000534445 3/5 1 NA ACA C,T 8.304e-06 8:144778460 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 synonymous_variant 1.407706 0.29659 0.08703 0.67177 0.7639159 0 0.2461106 FALSE 4.821e-06 ENSE00002342710_004 ENSE00002342710 004 8 146003788 146003957 - 36 87 47 C T 146003851 3079 107 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCAGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778465 144778466 144778466 exon -28 0.6896552 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCAGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 4618 73 0.7934187 0.9358062 0.8646125 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.07047 0.03672595 0.7803199 0.8110145 NA 0.05359798 NA FALSE NA 0 -2.846 . synonymous_variant LOW ZNF34 HGNC 13098 ENST00000534445 3/5 rs200071380 1 T:0.0018 T:0.0068 T:0 NA T:0 T:0 T:0 T:0.0057 T:0.0002 CCG C,T 0.0005644 8:144778466 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 synonymous_variant 2.028856 0.27412 0.00229 0.67177 0.5557774 0 0.2461106 FALSE 0.000455979 ENSE00002342710_005 ENSE00002342710 005 8 146003788 146003957 - 36 87 47 G T 146003852 3080 106 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGAGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778466 144778467 144778467 exon -29 0.6781609 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGAGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 490 173 0.7687955 0.9444243 0.8566099 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.04584676 0.0453441 0.7803199 0.8110145 NA 0.04559543 NA FALSE NA 0.004 0.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:144778467 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 missense_variant 2.270354 0.93767 0.1934 0.706548 0.9611102 0 0.2461106 FALSE NA ENSE00002342710_006 ENSE00002342710 006 8 146003788 146003957 - 36 87 47 G A 146003852 3081 106 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGTGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778466 144778467 144778467 exon -29 0.6781609 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGTGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 79 115 0.7633907 0.8122469 0.7878188 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.04044199 -0.08683332 0.7803199 0.8110145 NA -0.02319566 NA FALSE NA 0.004 0.3 NA NA NA ZNF34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF34 NA NA NA ENSG00000196378 ENSE00003518087 missense_variant 2.567206 0.94035 0.14466 0.706548 0.9988277 0 0.2461106 FALSE NA ENSE00002342710_008 ENSE00002342710 008 8 146003788 146003957 - 36 87 47 C A 146003859 3083 99 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGTCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778473 144778474 144778474 exon -36 0.5977011 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGTCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 433 224 0.9475529 0.9184923 0.9330226 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.2246042 0.01941209 0.7803199 0.8110145 NA 0.1220081 NA FALSE NA 0.002 0.688 . missense_variant MODERATE ZNF34 HGNC 13098 ENST00000534445 3/5 1 tolerated(0.37) possibly_damaging(0.585) NA GCC C,A 8.298e-06 8:144778474 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 missense_variant 0.602684 0.17863 0.13786 0.706548 0.9727428 0 0.2461106 FALSE NA ENSE00002342710_009 ENSE00002342710 009 8 146003788 146003957 - 36 87 47 G C 146003869 3084 89 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCGAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778483 144778484 144778484 exon 42 0.4827586 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCGAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 228 57 1 1 1 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.2770513 0.1009198 0.7803199 0.8110145 NA 0.1889855 NA FALSE NA 0.958 2.035 . synonymous_variant LOW ZNF34 HGNC 13098 ENST00000534445 3/5 1 NA TGG G,C 1.66e-05 8:144778484 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 synonymous_variant -0.667283 0.43998 0.5551 0.67177 0.4738463 0 0.2461106 FALSE 9.44662e-06 ENSE00002342710_010 ENSE00002342710 010 8 146003788 146003957 - 36 87 47 G A 146003881 3085 77 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCTCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778495 144778496 144778496 exon 30 0.3448276 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCTCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 11 697 0.95 0.9687261 0.9593631 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.2270513 0.06964588 0.7803199 0.8110145 NA 0.1483486 NA FALSE NA 0.044 1.785 . synonymous_variant LOW ZNF34 HGNC 13098 ENST00000534445 3/5 rs559426382 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGG G,A 6.646e-05 8:144778496 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 synonymous_variant 0.515039 0.50294 0.17346 0.67177 0.4993294 0 0.2461106 FALSE 5.37477e-05 ENSE00002342710_011 ENSE00002342710 011 8 146003788 146003957 - 36 87 47 G A 146003882 3086 76 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGTCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778496 144778497 144778497 exon 29 0.3333333 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGTCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 68 481 0.8486471 0.9336104 0.8911288 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.1256983 0.0345302 0.7803199 0.8110145 NA 0.08011427 NA FALSE NA 0.03 -0.158 . missense_variant MODERATE ZNF34 HGNC 13098 ENST00000534445 3/5 1 tolerated_low_confidence(0.23) benign(0.01) NA GGC G,A 8.31e-06 8:144778497 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 missense_variant 1.510984 0.45509 0.02015 0.67177 0.9926631 0 0.2461106 FALSE NA ENSE00002342710_014 ENSE00002342710 014 8 146003788 146003957 - 36 87 47 T C 146003904 3089 54 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCGGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778518 144778519 144778519 exon 7 0.08045977 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCGGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 499 528 0.9852732 0.9928349 0.989054 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.2623244 0.09375466 0.7803199 0.8110145 NA 0.1780395 NA FALSE NA 0 -0.317 . missense_variant MODERATE ZNF34 HGNC 13098 ENST00000534445 3/5 rs529759433 1 tolerated_low_confidence(0.05) unknown(0) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 CTG T,C 3.345e-05 8:144778519 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 missense_variant 1.065316 0.2087 0.01999 0.706548 0.9316091 0 0.2461106 FALSE 2.73323e-05 ENSE00002342710_015 ENSE00002342710 015 8 146003788 146003957 - 36 87 47 G A 146003908 3090 50 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTTCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778522 144778523 144778523 exon 3 0.03448276 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTTCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 400 324 0.942725 0.9468416 0.9447833 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.2197762 0.04776136 0.7803199 0.8110145 NA 0.1337688 NA FALSE NA 0.01 0.151 rs191294712 splice_region_variant&synonymous_variant LOW ZNF34 HGNC 13098 ENST00000534445 3/5 rs191294712 1 A:0.0042 A:0 A:0.0288 NA A:0 A:0.001 A:0 A:0 A:0.0005 GGA G,A 0.002578 8:144778523 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 splice_region_variant 0.788772 0.965 0.06951 0.706548 0.6705809 0 0.2461106 FALSE 0.00549481 ENSE00002342710_017 ENSE00002342710 017 8 146003788 146003957 - 36 87 47 G A 146003926 3092 32 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGTGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778540 144778541 144778541 upstr_intron -16 -0.3191489 AGAAGGGGCCAGACTGGGCCTCCACTTGTTGTGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 41 283 0.997975 0.9969856 0.9974803 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.2750263 0.09790532 0.7803199 0.8110145 NA 0.1864658 NA FALSE NA 0 -1.687 . intron_variant MODIFIER ZNF34 HGNC 13098 ENST00000534445 2/4 1 NA CGC A,A 0.0001276 8:144778541 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 intron_variant -0.278688 0.09891 0.00553 0.099367 0.3099219 0.0933731 0.2461106 FALSE 0.000143879 ENSE00002342710_018 ENSE00002342710 018 8 146003788 146003957 - 36 87 47 A G 146003932 3093 26 AGAAGGGGCCAGACTGGGCCTCCACCTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 144778546 144778547 144778547 upstr_intron -22 -0.4468085 AGAAGGGGCCAGACTGGGCCTCCACCTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT mutant NA NA NA NA NA 161 1167 0.9878991 0.9789899 0.9834445 0.7708674 0.7897724 0.7229487 0.8990802 NA NA 0.2649504 0.07990972 0.7803199 0.8110145 NA 0.17243 NA FALSE NA 0 -1.778 rs147093336 intron_variant MODIFIER ZNF34 HGNC 13098 ENST00000534445 2/4 rs147093336 1 G:0.0020 G:0 G:0 NA G:0.0099 G:0 G:0 AAG A,G 0.0004636 8:144778547 ZNF34 HGNC Symbol protein_coding 14231 ENSG00000196378 ENSE00003518087 intron_variant -0.166209 0.10742 0.01031 0.099367 0.4022567 0.0528616 0.2461106 FALSE 0.000667257 ENSE00002342710_BRK ENSE00002342710 BRK 8 146003788 146003957 - 36 87 47 A,G; T,T NA NA NA AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCTTCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGCCGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT 144778402 144778572 NA NA NA NA NA NA AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCTTCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGCCGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT AGAAGGGGCCAGACTGGGCCTCCACTTGTTGCGTTCTCTTCCCTCAGCTCCTCAGTGACCAGCTCCTGCTCACTGCCCTCAGAAAGCCCAACCCTCAGGCAATGGCGGCCTTGTTCCTGTCTGCCCCACCCCAGGTGAGTGTCTGTCCTCCTGGGAGGAGTGAAGTTTTT control 49 89 0 0 0 51 407 0 0.0012432 0.0006215999 0.7708674 0.7897724 0.7229487 0.8990802 -0.7708674 -0.7897724 -0.7229487 -0.897837 0.7803199 0.8110145 -0.7803199 -0.8103929 0.03007298 TRUE TRUE NA NA NA NA NA ZNF34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF34 NA NA NA ENSG00000196378 ENSE00003518087 NA NA NA NA NA NA NA 0.2461106 FALSE NA ENSE00002343174_000 ENSE00002343174 000 7 107335024 107335193 + 42 96 32 NA NA NA NA NA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 NA NA NA NA NA NA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA natural 184 82 0.907973 0.9938799 0.9509264 6831 5864 0.9393585 0.9779413 0.9586499 0.907973 0.9938799 0.9393585 0.9779413 0 0 0 0 0.9509264 0.9586499 0 0 0 FALSE FALSE NA NA NA NA NA SLC26A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC26A4 NA NA NA ENSG00000091137 ENSE00003511451 NA NA NA NA NA NA NA 6.366925e-13 FALSE NA ENSE00002343174_001 ENSE00002343174 001 7 107335024 107335193 + 42 96 32 A C 107335034 2218 11 CCATTCCCTGCATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694588 107694589 107694589 upstr_intron -32 -0.7380952 CCATTCCCTGCATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 983 126 0.9925894 0.9950162 0.9938028 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.05323088 0.01707493 0.9509264 0.9586499 NA 0.03515291 NA FALSE NA 0.513 2.057 . intron_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 2/7 1 NA GAA A,C 8.237e-06 7:107694589 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 intron_variant 1.393446 0.46558 0.76535 0.158681 0.7938119 0.343662 6.366925e-13 FALSE 4.07037e-06 ENSE00002343174_002 ENSE00002343174 002 7 107335024 107335193 + 42 96 32 A T 107335042 2219 19 CCATTCCCTGAATAACACTGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694596 107694597 107694597 upstr_intron -24 -0.547619 CCATTCCCTGAATAACACTGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 54 426 0.9904805 0.996438 0.9934593 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.051122 0.01849674 0.9509264 0.9586499 NA 0.03480937 NA FALSE NA 0.002 -0.413 . intron_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 2/7 1 NA CAG A,T 8.237e-06 7:107694597 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 intron_variant 1.44258 0.22937 0.09474 0.158681 0.780129 0.460613 6.366925e-13 FALSE 1.62775e-05 ENSE00002343174_003 ENSE00002343174 003 7 107335024 107335193 + 42 96 32 T C 107335060 2220 37 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTCGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694614 107694615 107694615 upstr_intron -6 -0.1190476 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTCGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 2595 2468 0.9981099 1 0.9990549 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.05875133 0.02205869 0.9509264 0.9586499 NA 0.04040501 NA FALSE NA 1 1.632 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC26A4 HGNC 8818 ENST00000480841 2/7 1 NA TTG T,C 8.237e-06 7:107694615 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 splice_region_variant 1.220562 0.81559 0.71477 0.158681 0.8711902 0.546721 6.366925e-13 FALSE 1.62723e-05 ENSE00002343174_004 ENSE00002343174 004 7 107335024 107335193 + 42 96 32 C T 107335067 2221 44 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTTGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694621 107694622 107694622 exon 2 0.02083333 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTTGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 2089 1394 0.9721063 0.9968739 0.9844901 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.0327478 0.01893259 0.9509264 0.9586499 NA 0.0258402 NA FALSE NA 1 7.145 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SLC26A4 HGNC 8818 ENST00000480841 3/8 CM057509&CM056405 1 NA TCG C,T 2.471e-05 7:107694622 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 missense_variant 6.632348 0.97243 0.93963 0.693307 0.9992998 0 6.366925e-13 FALSE 2.03399e-05 ENSE00002343174_005 ENSE00002343174 005 7 107335024 107335193 + 42 96 32 G A 107335068 2222 45 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCAGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694622 107694623 107694623 exon 3 0.03125 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCAGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 1152 750 0.9870156 0.9947561 0.9908858 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.04765704 0.01681478 0.9509264 0.9586499 NA 0.03223591 NA FALSE NA 0 -2.573 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SLC26A4 HGNC 8818 ENST00000480841 3/8 1 NA CGG G,A 1.647e-05 7:107694623 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 splice_region_variant 0.657452 0.15773 0.04914 0.693307 0.8185956 0 6.366925e-13 FALSE 1.22039e-05 ENSE00002343174_006 ENSE00002343174 006 7 107335024 107335193 + 42 96 32 T C 107335072 2223 49 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCCTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694626 107694627 107694627 exon 7 0.07291667 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCCTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 634 386 0.9589555 1 0.9794778 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.01959701 0.02205869 0.9509264 0.9586499 NA 0.02082785 NA FALSE NA 0.96 0.398 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/8 1 NA CTT T,C 8.237e-06 7:107694627 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 synonymous_variant 0.001788 0.91384 0.54793 0.693307 0.6972009 0 6.366925e-13 FALSE 4.06792e-06 ENSE00002343174_007 ENSE00002343174 007 7 107335024 107335193 + 42 96 32 G T 107335084 2224 61 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTTTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694638 107694639 107694639 exon 19 0.1979167 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTTTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 153 1372 1 0.9956921 0.997846 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.06064146 0.01775075 0.9509264 0.9586499 NA 0.03919611 NA FALSE NA 1 5.18 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/8 1 NA TGT G,T 8.237e-06 7:107694639 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 missense_variant 4.910622 0.97354 0.92698 0.693307 0.9982021 0 6.366925e-13 FALSE 4.06792e-06 ENSE00002343174_008 ENSE00002343174 008 7 107335024 107335193 + 42 96 32 A T 107335087 2225 64 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTATTTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694641 107694642 107694642 exon 22 0.2291667 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTATTTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 212 1087 0.9392383 0.99466 0.9669491 0.907973 0.9938799 0.9393585 0.9779413 NA NA -0.0001202489 0.01671869 0.9509264 0.9586499 NA 0.008299219 NA FALSE NA 1 6.644 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/8 rs375576481&CM030961 1 T:0.0076 T:0 T:0 NA T:0 T:0 T:0.0389 AAT A,T 0.004349 7:107694642 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 missense_variant 4.482383 0.96711 0.91603 0.693307 0.9856512 0 6.366925e-13 FALSE 0.00403495 ENSE00002343174_009 ENSE00002343174 009 7 107335024 107335193 + 42 96 32 T C 107335097 2226 74 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCCGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694651 107694652 107694652 exon 32 0.3333333 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCCGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 757 526 0.9436025 0.9428173 0.9432099 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.004243928 -0.03512398 0.9509264 0.9586499 NA -0.01544003 NA FALSE NA 1 7.345 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/8 1 NA CTG T,C 8.237e-06 7:107694652 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 missense_variant 6.288185 0.96591 0.9356 0.693307 0.9990779 0 6.366925e-13 FALSE 4.06742e-06 ENSE00002343174_010 ENSE00002343174 010 7 107335024 107335193 + 42 96 32 C T 107335129 2227 106 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTTCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694683 107694684 107694684 exon -33 0.6666667 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTTCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 2284 149 0.9613238 1 0.9806619 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.02196523 0.02205869 0.9509264 0.9586499 NA 0.02201196 NA FALSE NA 1 7.145 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/8 1 NA TCC C,T 8.237e-06 7:107694684 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 missense_variant 5.4571 0.97129 0.93855 0.693307 0.9991056 0 6.366925e-13 FALSE 4.06828e-06 ENSE00002343174_012 ENSE00002343174 012 7 107335024 107335193 + 42 96 32 G A 107335133 2229 110 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCATCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694687 107694688 107694688 exon -29 0.7083333 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCATCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 1237 438 0.9942848 0.9995516 0.9969182 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.05492623 0.02161027 0.9509264 0.9586499 NA 0.03826825 NA FALSE NA 0.999 3.008 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/8 rs200779286&COSM3366718&CM086956 1 A:0.0004 A:0 A:0 NA A:0.001 A:0.001 A:0 CGT G,A 4.118e-05 7:107694688 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 missense_variant 3.074896 0.93734 0.77728 0.693307 0.8467724 0 6.366925e-13 FALSE 4.06858e-05 ENSE00002343174_013 ENSE00002343174 013 7 107335024 107335193 + 42 96 32 T C 107335138 2230 115 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGCGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694692 107694693 107694693 exon -24 0.7604167 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGCGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 145 585 1 0.9980908 0.9990454 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.06064146 0.02014952 0.9509264 0.9586499 NA 0.04039549 NA FALSE NA 1 7.345 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/8 rs373738509&COSM1547837 1 NA C:0.0002 C:0 GTG T,C 1.647e-05 7:107694693 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 missense_variant 5.961345 0.9942 0.98583 0.693307 0.9966521 0 6.366925e-13 FALSE 1.62752e-05 ENSE00002343174_014 ENSE00002343174 014 7 107335024 107335193 + 42 96 32 G A 107335159 2231 136 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATACTGTAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694713 107694714 107694714 exon -3 0.9791667 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATACTGTAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 1003 1131 0.9794635 0.9929093 0.9861864 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.04010493 0.01496796 0.9509264 0.9586499 NA 0.02753645 NA FALSE NA 1 4.374 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SLC26A4 HGNC 8818 ENST00000480841 3/8 rs546115565 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGC G,A 8.237e-06 7:107694714 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 missense_variant 4.829479 0.9833 0.92356 0.487112 0.9983906 0 6.366925e-13 FALSE 4.07156e-06 ENSE00002343174_015 ENSE00002343174 015 7 107335024 107335193 + 42 96 32 C A 107335168 2232 145 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTAACCTACCACCTATATTTATCTGAAA 107694578 107694748 107694722 107694723 107694723 downstr_intron 7 1.225806 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTAACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 919 82 0.9920819 1 0.9960409 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.05272332 0.02205869 0.9509264 0.9586499 NA 0.037391 NA FALSE NA 0 -0.106 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC26A4 HGNC 8818 ENST00000480841 3/7 rs559614118 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TCA C,A 8.238e-06 7:107694723 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 splice_region_variant -0.054756 0.24571 0.08508 0.119485 0.5237682 0.21928 6.366925e-13 FALSE 1.22204e-05 ENSE00002343174_016 ENSE00002343174 016 7 107335024 107335193 + 42 96 32 T C 107335172 2233 149 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCCACCACCTATATTTATCTGAAA 107694578 107694748 107694726 107694727 107694727 downstr_intron 11 1.354839 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCCACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 1709 1763 0.9137999 0.9970629 0.9554314 0.907973 0.9938799 0.9393585 0.9779413 NA NA -0.02555863 0.01912158 0.9509264 0.9586499 NA -0.003218526 NA FALSE NA 0 -0.246 . intron_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/7 1 NA CTA T,C 8.238e-06 7:107694727 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 intron_variant -0.022228 0.18932 0.06431 0.119485 0.5234929 0.180756 6.366925e-13 FALSE 4.07428e-06 ENSE00002343174_017 ENSE00002343174 017 7 107335024 107335193 + 42 96 32 C G 107335174 2234 151 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTAGCACCTATATTTATCTGAAA 107694578 107694748 107694728 107694729 107694729 downstr_intron 13 1.419355 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTAGCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 253 753 0.9878477 0.9774103 0.982629 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.04848912 -0.0005310533 0.9509264 0.9586499 NA 0.02397903 NA FALSE NA 0 0.096 . intron_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/7 1 NA ACC C,G 8.238e-06 7:107694729 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 intron_variant 0.271505 0.21247 0.01787 0.119485 0.3453263 0.130333 6.366925e-13 FALSE 4.07445e-06 ENSE00002343174_018 ENSE00002343174 018 7 107335024 107335193 + 42 96 32 A C 107335176 2235 153 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCCCCTATATTTATCTGAAA 107694578 107694748 107694730 107694731 107694731 downstr_intron 15 1.483871 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCCCCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 177 770 0.9969376 0.995662 0.9962998 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.05757911 0.01772071 0.9509264 0.9586499 NA 0.03764991 NA FALSE NA 0 -2.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:107694731 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 intron_variant -0.152335 0.09331 0.02415 0.119485 0.3389959 0.126809 6.366925e-13 FALSE 4.07574e-06 ENSE00002343174_019 ENSE00002343174 019 7 107335024 107335193 + 42 96 32 A T 107335176 2236 153 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCTCCTATATTTATCTGAAA 107694578 107694748 107694730 107694731 107694731 downstr_intron 15 1.483871 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCTCCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 554 879 0.9953965 0.99982 0.9976082 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.05603791 0.02187873 0.9509264 0.9586499 NA 0.03895832 NA FALSE NA 0 -2.05 NA NA NA SLC26A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC26A4 NA NA NA ENSG00000091137 ENSE00003511451 intron_variant -0.013132 0.09296 0.0138 0.119485 0.3985482 0.126809 6.366925e-13 FALSE 4.07574e-06 ENSE00002343174_020 ENSE00002343174 020 7 107335024 107335193 + 42 96 32 A G 107335180 2237 157 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTGTATTTATCTGAAA 107694578 107694748 107694734 107694735 107694735 downstr_intron 19 1.612903 CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTGTATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA mutant NA NA NA NA NA 202 1044 0.9899304 0.9993307 0.9946305 0.907973 0.9938799 0.9393585 0.9779413 NA NA 0.05057185 0.02138939 0.9509264 0.9586499 NA 0.03598062 NA FALSE NA 0 -1.338 . intron_variant&non_coding_transcript_variant MODIFIER SLC26A4 HGNC 8818 ENST00000480841 3/7 1 NA TAT A,G 8.239e-06 7:107694735 SLC26A4 HGNC Symbol protein_coding 57174 ENSG00000091137 ENSE00003511451 intron_variant -0.038049 0.14151 0.03145 0.119485 0.4254832 0.126809 6.366925e-13 FALSE NA ENSE00002343174_BRK ENSE00002343174 BRK 7 107335024 107335193 + 42 96 32 A,G; T,T NA NA NA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCTTTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTCCAAGTCACCTACCACCTATATTTATCTGAAA 107694578 107694748 NA NA NA NA NA NA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCTTTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTCCAAGTCACCTACCACCTATATTTATCTGAAA CCATTCCCTGAATAACACAGCCTTCTCTGTCTCTCTTGGCAGTCGGTCTTGGCAGCTGTTGTAATTGCCAACCTGAAAGGGATGTTTATGCAGCTGTGTGACATTCCTCGTCTGTGGAGACAGAATAAGATTGATGCTGTAAGTCACCTACCACCTATATTTATCTGAAA control 13 11 0 0 0 64 272 0 0 0 0.907973 0.9938799 0.9393585 0.9779413 -0.907973 -0.9938799 -0.9393585 -0.9779413 0.9509264 0.9586499 -0.9509264 -0.9586499 0.00772348 TRUE TRUE NA NA NA NA NA SLC26A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC26A4 NA NA NA ENSG00000091137 ENSE00003511451 NA NA NA NA NA NA NA 6.366925e-13 FALSE NA ENSE00002343580_000 ENSE00002343580 000 3 53262254 53262423 - 38 84 48 NA NA NA NA NA TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 NA NA NA NA NA NA TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC natural NA NA NA NA NA 813 1688 0.9958573 0.9992038 0.9975306 NA NA 0.9958573 0.9992038 NA NA 0 0 NA 0.9975306 NA 0 NA FALSE NA NA NA NA NA NA TKT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKT NA NA NA ENSG00000163931 ENSE00003489724 NA NA NA NA NA NA NA 0.06028349 FALSE NA ENSE00002343580_001 ENSE00002343580 001 3 53262254 53262423 - 38 84 48 G T 53262272 1748 152 GCAGCTCTGTGGGCTCCTTGGGCATGCGAGGCACTGACCTTGGCTTGTCCGACCTGGAAGTCCTCATTGTTGTTATAGATGATGGCATTTTCTGGGCGGCTGGTCCGGATGAAGCAGATACCCTGAGACCGAAACAGATAAACTGAGGATACAGGATGTGGCACACCCAA 53228237 53228407 53228255 53228256 53228256 downstr_intron 20 1.540541 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCAAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 117 620 1 1 1 NA NA 0.9958573 0.9992038 NA NA 0.004142653 0.0007961908 NA 0.9975306 NA 0.002469422 NA FALSE NA 0 0.016 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA TGG G,T 8.236e-06 3:53228256 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 intron_variant 0.138771 0.27849 0.32343 0.256867 0.6073925 0.055809 0.06028349 FALSE 4.06121e-06 ENSE00002343580_003 ENSE00002343580 003 3 53262254 53262423 - 38 84 48 G C 53262283 1750 141 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCGTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228266 53228267 53228267 downstr_intron 9 1.243243 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCGTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 271 281 1 1 1 NA NA 0.9958573 0.9992038 NA NA 0.004142653 0.0007961908 NA 0.9975306 NA 0.002469422 NA FALSE NA 0 -1.884 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA AGG G,C 8.236e-06 3:53228267 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 intron_variant -0.193485 0.20814 0.24772 0.256867 0.5375945 0.0964099 0.06028349 FALSE 4.06095e-06 ENSE00002343580_007 ENSE00002343580 007 3 53262254 53262423 - 38 84 48 T C 53262301 1754 123 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGGCAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228284 53228285 53228285 exon -10 0.8928571 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGGCAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 1078 364 0.9945277 1 0.9972638 NA NA 0.9958573 0.9992038 NA NA -0.001329661 0.0007961908 NA 0.9975306 NA -0.0002667353 NA FALSE NA 0.863 -0.093 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA GTC T,C 1.647e-05 3:53228285 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 synonymous_variant 0.338085 0.7442 0.85017 0.67177 0.7966052 0 0.06028349 FALSE 1.21825e-05 ENSE00002343580_009 ENSE00002343580 009 3 53262254 53262423 - 38 84 48 G A 53262304 1756 120 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTTGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228287 53228288 53228288 exon -13 0.8571429 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTTGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 1081 106 0.9966832 0.9721547 0.9844189 NA NA 0.9958573 0.9992038 NA NA 0.0008258163 -0.02704913 NA 0.9975306 NA -0.01311166 NA FALSE NA 0.001 -1.158 NA NA NA TKT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:53228288 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 synonymous_variant 1.917636 0.39984 0.11947 0.67177 0.6810552 0 0.06028349 FALSE 4.06118e-05 ENSE00002343580_012 ENSE00002343580 012 3 53262254 53262423 - 38 84 48 C T 53262315 1759 109 GCAGCTCTGTGGGCTCCTGGGGCATGCGAGGCACTGACCTTGGCTTGTCCGACCTGGAAGTTCTCATTGTTGTTATAGATGATGGCATTTTCTGGGCGGCTGGTCCGGATGAAGCAGATACCCTGAGACCGAAACAGATAAACTGAGGATACAGGATGTGGCACACCCAA 53228237 53228407 53228298 53228299 53228299 exon -24 0.7261905 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGAACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 74 104 0.9830042 1 0.9915021 NA NA 0.9958573 0.9992038 NA NA -0.01285317 0.0007961908 NA 0.9975306 NA -0.006028488 NA FALSE NA 1 4.702 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA TCC C,T 5.765e-05 3:53228299 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 missense_variant 3.308614 0.94725 0.92964 0.67177 0.9941694 0 0.06028349 FALSE 3.65524e-05 ENSE00002343580_013 ENSE00002343580 013 3 53262254 53262423 - 38 84 48 G A 53262322 1760 102 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAATAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228305 53228306 53228306 exon -31 0.6428571 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAATAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 13 143 1 1 1 NA NA 0.9958573 0.9992038 NA NA 0.004142653 0.0007961908 NA 0.9975306 NA 0.002469422 NA FALSE NA 1 7.845 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA TGT G,A 8.236e-06 3:53228306 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 synonymous_variant 1.347027 0.96663 0.98746 0.67177 0.7493509 0 0.06028349 FALSE 4.06237e-06 ENSE00002343580_015 ENSE00002343580 015 3 53262254 53262423 - 38 84 48 G A 53262331 1762 93 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATTTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228314 53228315 53228315 exon -40 0.5357143 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATTTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 46 64 1 1 1 NA NA 0.9958573 0.9992038 NA NA 0.004142653 0.0007961908 NA 0.9975306 NA 0.002469422 NA FALSE NA 1 2.093 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA AGA G,A 8.236e-06 3:53228315 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 synonymous_variant 2.002904 0.92809 0.86525 0.67177 0.762458 0 0.06028349 FALSE 1.21899e-05 ENSE00002343580_016 ENSE00002343580 016 3 53262254 53262423 - 38 84 48 T C 53262346 1763 78 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCGGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228329 53228330 53228330 exon 30 0.3571429 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCGGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 241 63 1 1 1 NA NA 0.9958573 0.9992038 NA NA 0.004142653 0.0007961908 NA 0.9975306 NA 0.002469422 NA FALSE NA 0.015 -1.065 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA CTG T,C 8.236e-06 3:53228330 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 synonymous_variant 0.605267 0.65453 0.33955 0.67177 0.463937 0 0.06028349 FALSE 4.06838e-06 ENSE00002343580_017 ENSE00002343580 017 3 53262254 53262423 - 38 84 48 C T 53262350 1764 74 GCAGCTCTGTGGGCTCCTGGGGCATGCGAGGCACTGACCTTGGCTTGTCCGACCTGGAAGTCCTCATTGTTGTTATAGATGATGGCATTTTCTGGGTGGCTGGTCCGGATGAAGCAGATACCCTGAGACCGAAACAGATAAACTGAGGATACAGGATGTGGCACACCCAA 53228237 53228407 53228333 53228334 53228334 exon 26 0.3095238 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCACCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 280 266 1 0.9835987 0.9917993 NA NA 0.9958573 0.9992038 NA NA 0.004142653 -0.01560513 NA 0.9975306 NA -0.005731241 NA FALSE NA 1 7.731 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA GCG C,T 8.236e-06 3:53228334 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 missense_variant 8.198137 0.97687 0.98918 0.67177 0.9990457 0 0.06028349 FALSE NA ENSE00002343580_018 ENSE00002343580 018 3 53262254 53262423 - 38 84 48 G A 53262355 1765 69 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACTAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228338 53228339 53228339 exon 21 0.25 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACTAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 136 826 1 0.9948637 0.9974318 NA NA 0.9958573 0.9992038 NA NA 0.004142653 -0.004340158 NA 0.9975306 NA -9.875237e-05 NA FALSE NA 1 0.56 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA TGG G,A 8.236e-06 3:53228339 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 synonymous_variant 1.590933 0.92671 0.90977 0.67177 0.6109812 0 0.06028349 FALSE 4.07335e-06 ENSE00002343580_019 ENSE00002343580 019 3 53262254 53262423 - 38 84 48 C A 53262358 1766 66 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGTACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228341 53228342 53228342 exon 18 0.2142857 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGTACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 162 805 1 0.9974056 0.9987028 NA NA 0.9958573 0.9992038 NA NA 0.004142653 -0.001798249 NA 0.9975306 NA 0.001172202 NA FALSE NA 0.922 -0.02 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA TCC C,A 3.295e-05 3:53228342 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 synonymous_variant 2.242769 0.82665 0.84055 0.67177 0.5812603 0 0.06028349 FALSE 3.66793e-05 ENSE00002343580_021 ENSE00002343580 021 3 53262254 53262423 - 38 84 48 G A 53262361 1768 63 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATTCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228344 53228345 53228345 exon 15 0.1785714 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATTCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 30 99 1 1 1 NA NA 0.9958573 0.9992038 NA NA 0.004142653 0.0007961908 NA 0.9975306 NA 0.002469422 NA FALSE NA 1 1.108 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA GGA G,A 5.765e-05 3:53228345 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 synonymous_variant 1.603702 0.91777 0.90607 0.67177 0.7688365 0 0.06028349 FALSE 5.70986e-05 ENSE00002343580_022 ENSE00002343580 022 3 53262254 53262423 - 38 84 48 T A 53262363 1769 61 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCTTCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228346 53228347 53228347 exon 13 0.1547619 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCTTCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 323 893 0.9506373 0.9970897 0.9738635 NA NA 0.9958573 0.9992038 NA NA -0.04522001 -0.002114118 NA 0.9975306 NA -0.02366706 NA FALSE NA 1 7.95 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:53228347 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 missense_variant 7.270826 0.97133 0.9896 0.67177 0.9886779 0 0.06028349 FALSE 0.000334375 ENSE00002343580_023 ENSE00002343580 023 3 53262254 53262423 - 38 84 48 T G 53262363 1770 61 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCCTCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228346 53228347 53228347 exon 13 0.1547619 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCCTCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 241 19 0.9991431 1 0.9995715 NA NA 0.9958573 0.9992038 NA NA 0.003285705 0.0007961908 NA 0.9975306 NA 0.002040948 NA FALSE NA 1 7.95 NA NA NA TKT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TKT NA NA NA ENSG00000163931 ENSE00003489724 missense_variant 3.496905 0.9716 0.98984 0.67177 0.9900464 0 0.06028349 FALSE 4.07774e-06 ENSE00002343580_024 ENSE00002343580 024 3 53262254 53262423 - 38 84 48 G A 53262384 1771 40 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTTGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228367 53228368 53228368 upstr_intron -9 -0.1666667 TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTTGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 591 333 0.9451308 0.9995248 0.9723278 NA NA 0.9958573 0.9992038 NA NA -0.05072658 0.0003209625 NA 0.9975306 NA -0.02520281 NA FALSE NA 0 -0.286 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA CGA G,A 8.236e-06 3:53228368 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 intron_variant -0.310971 0.18286 0.1478 0.256867 0.4226892 0.267416 0.06028349 FALSE NA ENSE00002343580_026 ENSE00002343580 026 3 53262254 53262423 - 38 84 48 C G 53262396 1773 28 TTGGGTGTGCCACATCCTGTATCCTCACTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228379 53228380 53228380 upstr_intron -21 -0.4166667 TTGGGTGTGCCACATCCTGTATCCTCACTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 362 91 0.9988576 0.9991592 0.9990084 NA NA 0.9958573 0.9992038 NA NA 0.003000239 -4.46333e-05 NA 0.9975306 NA 0.001477803 NA FALSE NA 0 0.072 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA ACT C,G 8.236e-06 3:53228380 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 intron_variant 0.242518 0.26435 0.29917 0.256867 0.5228184 0.234989 0.06028349 FALSE 4.1085e-06 ENSE00002343580_028 ENSE00002343580 028 3 53262254 53262423 - 38 84 48 C G 53262405 1775 19 TTGGGTGTGCCACATCCTCTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC 53228237 53228407 53228388 53228389 53228389 upstr_intron -30 -0.6041667 TTGGGTGTGCCACATCCTCTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 131 99 1 0.8163578 0.9081789 NA NA 0.9958573 0.9992038 NA NA 0.004142653 -0.182846 NA 0.9975306 NA -0.08935169 NA FALSE NA 0 -0.806 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA ACA C,G 8.236e-06 3:53228389 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 intron_variant 0.090802 0.31562 0.27208 0.256867 0.3955963 0.0733435 0.06028349 FALSE 4.13066e-06 ENSE00002343580_029 ENSE00002343580 029 3 53262254 53262423 - 38 84 48 A G 53262406 1776 18 GCAGCTCTGTGGGCTCCTGGGGCATGCGAGGCACTGACCTTGGCTTGTCCGACCTGGAAGTCCTCATTGTTGTTATAGATGATGGCATTTTCTGGGCGGCTGGTCCGGATGAAGCAGATACCCTGAGACCGAAACAGATAAACTGAGGATACGGGATGTGGCACACCCAA 53228237 53228407 53228389 53228390 53228390 upstr_intron -31 -0.625 TTGGGTGTGCCACATCCCGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC TTGGGTGTGCCACATCCTGTATCCTCAGTTTATCTGTTTCGGTCTCAGGGTATCTGCTTCATCCGGACCAGCCGCCCAGAAAATGCCATCATCTATAACAACAATGAGGACTTCCAGGTCGGACAAGCCAAGGTCAGTGCCTCGCATGCCCCAGGAGCCCACAGAGCTGC mutant NA NA NA NA NA 164 30 0.997975 1 0.9989875 NA NA 0.9958573 0.9992038 NA NA 0.0021177 0.0007961908 NA 0.9975306 NA 0.001456945 NA FALSE NA 0 0.712 . downstream_gene_variant MODIFIER TKT HGNC 11834 ENST00000472528 1 NA CAG A,G 8.236e-06 3:53228390 TKT HGNC Symbol protein_coding 31345 ENSG00000163931 ENSE00003489724 intron_variant 0.080567 0.26759 0.25949 0.256867 0.3123204 0.0733435 0.06028349 FALSE NA ENSE00002343614_000 ENSE00002343614 000 2 238255098 238255267 - 48 63 59 NA NA NA NA NA GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 NA NA NA NA NA NA GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT natural 70 90 0.9897917 0.9938825 0.9918371 5111 6079 0.9209867 0.8599289 0.8904578 0.9897917 0.9938825 0.9209867 0.8599289 0 0 0 0 0.9918371 0.8904578 0 0 0 FALSE FALSE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003543544 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002343614_001 ENSE00002343614 001 2 238255098 238255267 - 48 63 59 C T 238255119 5545 149 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGACCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346475 237346476 237346476 downstr_intron 27 1.574468 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGACCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 30 2019 0.9502025 0.998942 0.9745722 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.02921573 0.1390131 0.9918371 0.8904578 NA 0.08411441 NA FALSE NA 0 0.177 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 31/42 rs566216954 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCC C,T 1.647e-05 2:237346476 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 intron_variant 0.486672 0.32739 0.07719 0.06567 0.5401393 0.0957265 7.793308e-11 FALSE 8.12262e-06 ENSE00002343614_002 ENSE00002343614 002 2 238255098 238255267 - 48 63 59 C T 238255120 5546 148 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCAGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346476 237346477 237346477 downstr_intron 26 1.553191 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCAGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 308 224 0.9844666 0.9950861 0.9897763 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.06347981 0.1351572 0.9918371 0.8904578 NA 0.09931851 NA FALSE NA 0 0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237346477 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 intron_variant 0.30522 0.09592 0.00078 0.06567 0.4618618 0.0957265 7.793308e-11 FALSE 0.14994 ENSE00002343614_003 ENSE00002343614 003 2 238255098 238255267 - 48 63 59 C A 238255120 5547 148 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCTGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346476 237346477 237346477 downstr_intron 26 1.553191 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCTGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 640 1015 0.9951761 0.9964761 0.9958261 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.07418934 0.1365472 0.9918371 0.8904578 NA 0.1053683 NA FALSE NA 0 0.02 NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003543544 intron_variant 0.296865 0.19784 0.04106 0.06567 0.5130658 0.0957265 7.793308e-11 FALSE 4.06309e-06 ENSE00002343614_005 ENSE00002343614 005 2 238255098 238255267 - 48 63 59 A G 238255126 5549 142 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCCGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346482 237346483 237346483 downstr_intron 20 1.425532 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCCGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 68 578 0.9993932 0.9955689 0.9974811 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.07840648 0.13564 0.9918371 0.8904578 NA 0.1070233 NA FALSE NA 0 0.116 rs115681406 intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 31/42 rs115681406 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0003 CAG A,G 0.000173 2:237346483 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 intron_variant 0.273455 0.10762 0.00696 0.06567 0.6124897 0.0957265 7.793308e-11 FALSE 0.000223365 ENSE00002343614_006 ENSE00002343614 006 2 238255098 238255267 - 48 63 59 C G 238255130 5550 138 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCACTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346486 237346487 237346487 downstr_intron 16 1.340426 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCACTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 70 11 1 0.9542574 0.9771287 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.07901326 0.0943285 0.9918371 0.8904578 NA 0.08667088 NA FALSE NA 0 -0.259 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 31/42 rs372868044 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0009 G:0 ACT C,G 5.765e-05 2:237346487 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 intron_variant 0.676421 0.25788 0.07582 0.06567 0.6209652 0.0957265 7.793308e-11 FALSE 2.84273e-05 ENSE00002343614_008 ENSE00002343614 008 2 238255098 238255267 - 48 63 59 T A 238255142 5552 126 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTATGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346498 237346499 237346499 downstr_intron 4 1.085106 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTATGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 61 306 0.008085718 0.004978726 0.006532222 0.9897917 0.9938825 0.9209867 0.8599289 NA NA -0.912901 -0.8549502 0.9918371 0.8904578 NA -0.8839256 NA TRUE NA 1 7.222 . splice_region_variant&intron_variant LOW COL6A3 HGNC 2213 ENST00000346358 31/42 1 NA CTT T,A 8.236e-06 2:237346499 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 splice_region_variant 2.612045 0.99169 0.995 0.06567 0.9775002 0.982514 7.793308e-11 FALSE 4.06085e-06 ENSE00002343614_009 ENSE00002343614 009 2 238255098 238255267 - 48 63 59 C T 238255148 5553 120 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAACTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346504 237346505 237346505 exon -3 0.968254 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAACTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 2032 536 0.9973359 0.9909192 0.9941276 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.07634919 0.1309903 0.9918371 0.8904578 NA 0.1036697 NA FALSE NA 0.276 -0.09 . missense_variant&splice_region_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 31/43 1 unknown(0) NA GCT C,T 1.647e-05 2:237346505 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 missense_variant 2.487077 0.95671 0.2436 0.615465 0.9873151 0 7.793308e-11 FALSE 1.21828e-05 ENSE00002343614_010 ENSE00002343614 010 2 238255098 238255267 - 48 63 59 T G 238255152 5554 116 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGCCCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346508 237346509 237346509 exon -7 0.9047619 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGCCCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 311 406 0.9923459 1 0.996173 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.07135917 0.1400711 0.9918371 0.8904578 NA 0.1057151 NA FALSE NA 0.493 -0.602 rs35902696 synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 31/43 rs35902696 1 G:0.0234 G:0.0862 G:0.0043 NA G:0 G:0 G:0 G:0.0581 G:0.001 GTC T,G 0.006441 2:237346509 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 synonymous_variant 1.060768 0.96772 0.54382 0.615465 0.7667673 0 7.793308e-11 FALSE 0.00520199 ENSE00002343614_012 ENSE00002343614 012 2 238255098 238255267 - 48 63 59 G A 238255201 5556 67 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTTGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346557 237346558 237346558 exon 8 0.1269841 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTTGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 201 730 1 0.9989505 0.9994752 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.07901326 0.1390216 0.9918371 0.8904578 NA 0.1090174 NA FALSE NA 0.997 5.334 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 31/43 rs377168716 1 unknown(0) NA CGA G,A 1.647e-05 2:237346558 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 missense_variant 4.507356 0.98677 0.96884 0.615465 0.9982462 0 7.793308e-11 FALSE 8.12176e-06 ENSE00002343614_014 ENSE00002343614 014 2 238255098 238255267 - 48 63 59 G T 238255216 5558 52 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTACCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346572 237346573 237346573 upstr_intron -8 -0.1186441 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTACCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 581 35 0.8322392 0.9954542 0.9138467 0.9897917 0.9938825 0.9209867 0.8599289 NA NA -0.08874756 0.1355253 0.9918371 0.8904578 NA 0.02338887 NA FALSE NA 0 0.016 . splice_region_variant&intron_variant LOW COL6A3 HGNC 2213 ENST00000346358 30/42 1 NA GGA G,T 8.236e-06 2:237346573 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 splice_region_variant 0.456903 0.23743 0.13301 0.06567 0.6159935 0.38428 7.793308e-11 FALSE NA ENSE00002343614_015 ENSE00002343614 015 2 238255098 238255267 - 48 63 59 A G 238255222 5559 46 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTCCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346578 237346579 237346579 upstr_intron -14 -0.220339 GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTCCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 199 544 0.9985433 1 0.9992717 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.07755659 0.1400711 0.9918371 0.8904578 NA 0.1088138 NA FALSE NA 0.755 2.987 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 30/42 1 NA GAA A,G 8.236e-06 2:237346579 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 intron_variant 0.078363 0.41688 0.08618 0.06567 0.6937163 0.662141 7.793308e-11 FALSE 4.06114e-06 ENSE00002343614_017 ENSE00002343614 017 2 238255098 238255267 - 48 63 59 G A 238255240 5561 28 GAGCCTTAAATTCTCCACTTTCTGACATAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346596 237346597 237346597 upstr_intron -32 -0.5254237 GAGCCTTAAATTCTCCACTTTCTGACATAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 1345 194 0.9887192 0.9729806 0.9808499 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.06773242 0.1130517 0.9918371 0.8904578 NA 0.09039205 NA FALSE NA 0 -0.045 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 30/42 1 NA TGT G,A 1.647e-05 2:237346597 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 intron_variant 0.027984 0.20472 0.04093 0.06567 0.5404488 0.0968874 7.793308e-11 FALSE 4.06418e-06 ENSE00002343614_018 ENSE00002343614 018 2 238255098 238255267 - 48 63 59 G C 238255250 5562 18 GAGCCTTAAATTCTCCAGTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 237346606 237346607 237346607 upstr_intron -42 -0.6949153 GAGCCTTAAATTCTCCAGTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT mutant NA NA NA NA NA 465 389 0.9974953 1 0.9987476 0.9897917 0.9938825 0.9209867 0.8599289 NA NA 0.07650853 0.1400711 0.9918371 0.8904578 NA 0.1082898 NA FALSE NA 0 -0.367 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 30/42 rs375979754 1 NA C:0 C:0.0001 AGT G,C 8.237e-06 2:237346607 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003543544 intron_variant -0.442355 0.20076 0.02824 0.06567 0.3514493 0.0793667 7.793308e-11 FALSE 8.13623e-06 ENSE00002343614_BRK ENSE00002343614 BRK 2 238255098 238255267 - 48 63 59 A,G; T,T NA NA NA GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTTTGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTCCAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT 237346454 237346624 NA NA NA NA NA NA GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTTTGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTCCAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT GAGCCTTAAATTCTCCACTTTCTGACACAGTTGAACAATGTTTGTTCTGCTCCCTCTAGGGAAATTCGGGACCTCCAGGGATAGTTGGACAGAAGGGAGACCCTGGCTACCCAGGACCAGCTGTAAGTATTTATCCAGTTCTGACCCGGCCACCTGGGGCTGGGTGCTTT control 126 102 0 0.09904105 0.04952053 152 1001 0 0.0003195709 0.0001597855 0.9897917 0.9938825 0.9209867 0.8599289 -0.9897917 -0.8948415 -0.9209867 -0.8596093 0.9918371 0.8904578 -0.9423166 -0.890298 0.05201855 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003543544 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002343629_000 ENSE00002343629 000 7 134650007 134650176 + 50 81 39 NA NA NA NA NA GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 NA NA NA NA NA NA GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT natural 209 285 0.9886257 0.9914609 0.9900433 6649 5463 0.9383124 0.9944626 0.9663875 0.9886257 0.9914609 0.9383124 0.9944626 0 0 0 0 0.9900433 0.9663875 0 0 0 FALSE FALSE NA NA NA NA NA CALD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALD1 NA NA NA ENSG00000122786 ENSE00003522806 NA NA NA NA NA NA NA 0.9990977 TRUE NA ENSE00002343629_002 ENSE00002343629 002 7 134650007 134650176 + 50 81 39 G A 134650030 2635 24 GAAAATATAAATGGCCACCTATCAATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965278 134965279 134965279 upstr_intron -27 -0.52 GAAAATATAAATGGCCACCTATCAATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 691 1298 0.9939955 0.9633902 0.9786929 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.05568316 -0.03107236 0.9900433 0.9663875 NA 0.0123054 NA FALSE NA 0 -1.331 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 rs374416477 1 NA A:0 A:0.0001 CGA G,A 1.647e-05 7:134965279 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 non_coding_transcript_exon_variant -0.408708 0.06938 0.02512 0.099367 0.5850963 0.0682425 0.9990977 TRUE 1.22172e-05 ENSE00002343629_003 ENSE00002343629 003 7 134650007 134650176 + 50 81 39 T C 134650034 2636 28 GAAAATATAAATGGCCACCTATCGATGCTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965282 134965283 134965283 upstr_intron -23 -0.44 GAAAATATAAATGGCCACCTATCGATGCTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 346 2120 0.999881 0.9976686 0.9987748 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.06156863 0.003206007 0.9900433 0.9663875 NA 0.03238732 NA FALSE NA 0 -0.269 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA GTT T,C 8.236e-06 7:134965283 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 non_coding_transcript_exon_variant 0.776845 0.81374 0.21549 0.099367 0.7382255 0.0673029 0.9990977 TRUE 4.06934e-06 ENSE00002343629_004 ENSE00002343629 004 7 134650007 134650176 + 50 81 39 T C 134650037 2637 31 GAAAATATAAATGGCCACCTATCGATGTTTCTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965285 134965286 134965286 upstr_intron -20 -0.38 GAAAATATAAATGGCCACCTATCGATGTTTCTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 124 1184 0.9984271 0.9978133 0.9981202 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.06011476 0.003350663 0.9900433 0.9663875 NA 0.03173271 NA FALSE NA 0.001 -0.073 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA TTT T,C 3.295e-05 7:134965286 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 non_coding_transcript_exon_variant 0.707781 0.95023 0.12921 0.099367 0.6924198 0.343931 0.9990977 TRUE 2.03411e-05 ENSE00002343629_007 ENSE00002343629 007 7 134650007 134650176 + 50 81 39 T C 134650050 2640 44 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTCTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965298 134965299 134965299 upstr_intron -7 -0.12 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTCTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 1906 849 0.9981399 0.9955833 0.9968616 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.05982749 0.001120682 0.9900433 0.9663875 NA 0.03047409 NA FALSE NA 0 0.208 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA TTT T,C 8.236e-06 7:134965299 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 splice_region_variant -0.263248 0.26567 0.04815 0.099367 0.5012339 0.233352 0.9990977 TRUE 4.0661e-06 ENSE00002343629_009 ENSE00002343629 009 7 134650007 134650176 + 50 81 39 C A 134650066 2642 60 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGAACAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965314 134965315 134965315 exon 10 0.1234568 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGAACAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 60 370 1 0.9984421 0.999221 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.06168763 0.003979467 0.9900433 0.9663875 NA 0.03283355 NA FALSE NA 1 4.814 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA ACC C,A 8.236e-06 7:134965315 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 missense_variant 6.692579 0.99084 0.97954 0.706548 0.9974588 0 0.9990977 TRUE 4.06187e-06 ENSE00002343629_010 ENSE00002343629 010 7 134650007 134650176 + 50 81 39 C T 134650074 2643 68 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGATGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965322 134965323 134965323 exon 18 0.2222222 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGATGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 2783 1216 0.960173 0.9999687 0.9800708 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.02186061 0.005506088 0.9900433 0.9663875 NA 0.01368335 NA FALSE NA 0.79 -0.445 rs143329868 downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 rs143329868 1 NA T:0.0002 T:0.0009 ACG C,T 0.0006754 7:134965323 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 synonymous_variant 2.11271 0.93972 0.11027 0.706548 0.5662276 0 0.9990977 TRUE 0.000759508 ENSE00002343629_011 ENSE00002343629 011 7 134650007 134650176 + 50 81 39 G A 134650075 2644 69 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACATATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965323 134965324 134965324 exon 19 0.2345679 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACATATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 969 413 0.9921871 1 0.9960936 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.05387474 0.00553739 0.9900433 0.9663875 NA 0.02970607 NA FALSE NA 1 8.15 rs147498390 downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 rs147498390 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 A:0.0002 A:0 CGT G,A 3.295e-05 7:134965324 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 missense_variant 7.209731 0.99071 0.98846 0.706548 0.9984206 0 0.9990977 TRUE 1.62467e-05 ENSE00002343629_012 ENSE00002343629 012 7 134650007 134650176 + 50 81 39 A T 134650077 2645 71 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTTTCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965325 134965326 134965326 exon 21 0.2592593 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTTTCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 656 561 0.8546455 0.9994554 0.9270505 0.9886257 0.9914609 0.9383124 0.9944626 NA NA -0.08366688 0.004992838 0.9900433 0.9663875 NA -0.03933702 NA FALSE NA 0.998 0.594 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA TAT A,T 8.236e-06 7:134965326 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 synonymous_variant 0.427372 0.96464 0.79369 0.706548 0.71815 0 0.9990977 TRUE 8.12275e-06 ENSE00002343629_013 ENSE00002343629 013 7 134650007 134650176 + 50 81 39 A G 134650085 2646 79 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAGGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965333 134965334 134965334 exon 29 0.3580247 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAGGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 627 160 0.9671815 0.9828143 0.9749979 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.02886909 -0.01164829 0.9900433 0.9663875 NA 0.008610402 NA FALSE NA 1 7.716 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA AAG A,G 1.647e-05 7:134965334 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 missense_variant 6.388102 0.98852 0.98791 0.706548 0.998993 0 0.9990977 TRUE 1.21838e-05 ENSE00002343629_014 ENSE00002343629 014 7 134650007 134650176 + 50 81 39 G A 134650088 2647 82 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCAGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965336 134965337 134965337 exon 32 0.3950617 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCAGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 2086 2138 0.9976202 0.9975042 0.9975622 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.05930787 0.003041626 0.9900433 0.9663875 NA 0.03117475 NA FALSE NA 1 8.15 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 rs571684749&COSM216774&COSM3381806 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 8.236e-06 7:134965337 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 missense_variant 7.881728 0.99071 0.98846 0.706548 0.999568 0 0.9990977 TRUE 8.12321e-06 ENSE00002343629_015 ENSE00002343629 015 7 134650007 134650176 + 50 81 39 A G 134650100 2648 94 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGGAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965348 134965349 134965349 exon -38 0.5432099 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGGAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 1172 2396 0.998124 0.995065 0.9965945 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.0598116 0.0006023859 0.9900433 0.9663875 NA 0.03020699 NA FALSE NA 1 7.716 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA GAA A,G 1.647e-05 7:134965349 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 missense_variant 6.934989 0.98852 0.98791 0.719381 0.9992436 0 0.9990977 TRUE 1.62466e-05 ENSE00002343629_016 ENSE00002343629 016 7 134650007 134650176 + 50 81 39 C T 134650129 2649 123 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCTCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965377 134965378 134965378 exon -9 0.9012346 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCTCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 519 620 0.9136514 0.87429 0.8939707 0.9886257 0.9914609 0.9383124 0.9944626 NA NA -0.02466097 -0.1201726 0.9900433 0.9663875 NA -0.07241678 NA FALSE NA 0.982 2.256 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA CCC C,T 8.236e-06 7:134965378 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 missense_variant 6.427028 0.97697 0.85208 0.719381 0.9990766 0 0.9990977 TRUE 4.06204e-06 ENSE00002343629_017 ENSE00002343629 017 7 134650007 134650176 + 50 81 39 C G 134650131 2650 125 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCGACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965379 134965380 134965380 exon -7 0.9259259 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCGACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 1657 7480 0.9974754 0.9755023 0.9864888 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.05916301 -0.01896029 0.9900433 0.9663875 NA 0.02010136 NA FALSE NA 0.099 -0.569 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA CCA C,G 8.236e-06 7:134965380 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 synonymous_variant 1.333571 0.96579 0.25545 0.719381 0.6891477 0 0.9990977 TRUE 4.0621e-06 ENSE00002343629_019 ENSE00002343629 019 7 134650007 134650176 + 50 81 39 A G 134650145 2652 139 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTGTTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965393 134965394 134965394 downstr_intron 8 1.210526 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTGTTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 1197 15 1 1 1 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.06168763 0.00553739 0.9900433 0.9663875 NA 0.03361251 NA FALSE NA 0 -2.71 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA TAT A,G 8.236e-06 7:134965394 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 splice_region_variant 0.107978 0.12768 0.03775 0.160075 0.4304627 0.172559 0.9990977 TRUE 1.62545e-05 ENSE00002343629_020 ENSE00002343629 020 7 134650007 134650176 + 50 81 39 T C 134650147 2653 141 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATCGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 134965395 134965396 134965396 downstr_intron 10 1.263158 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATCGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 2658 1086 0.9996899 0.9908619 0.9952759 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.06137756 -0.003600682 0.9900433 0.9663875 NA 0.02888844 NA FALSE NA 0 -0.121 rs188104536 downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 rs188104536 1 C:0.0010 C:0.0038 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 TTG T,C 0.00014 7:134965396 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 non_coding_transcript_exon_variant 0.15202 0.20794 0.07611 0.160075 0.5278593 0.157936 0.9990977 TRUE 9.34655e-05 ENSE00002343629_021 ENSE00002343629 021 7 134650007 134650176 + 50 81 39 T C 134650161 2654 155 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTACTTCAGAGGTTTGTTT 134965255 134965425 134965409 134965410 134965410 downstr_intron 24 1.631579 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTACTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 716 1195 0.9954287 0.8673868 0.9314078 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.05711635 -0.1270758 0.9900433 0.9663875 NA -0.03497971 NA FALSE NA 0.002 2.023 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA ATT T,C 8.236e-06 7:134965410 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 non_coding_transcript_exon_variant 0.14989 0.40358 0.36309 0.160075 0.6424595 0.650242 0.9990977 TRUE 4.06918e-06 ENSE00002343629_022 ENSE00002343629 022 7 134650007 134650176 + 50 81 39 T A 134650162 2655 156 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATATCAGAGGTTTGTTT 134965255 134965425 134965410 134965411 134965411 downstr_intron 25 1.657895 GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATATCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT mutant NA NA NA NA NA 812 850 0.9482552 0.9999104 0.9740828 0.9886257 0.9914609 0.9383124 0.9944626 NA NA 0.009942856 0.005447795 0.9900433 0.9663875 NA 0.007695325 NA FALSE NA 0 0.284 . downstream_gene_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 1 NA TTT T,A 8.236e-06 7:134965411 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003522806 non_coding_transcript_exon_variant 0.574013 0.22838 0.24759 0.160075 0.5809647 0.157936 0.9990977 TRUE 1.22094e-05 ENSE00002343629_BRK ENSE00002343629 BRK 7 134650007 134650176 + 50 81 39 A,G; T,T NA NA NA GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCTTGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGCCAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT 134965255 134965425 NA NA NA NA NA NA GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCTTGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGCCAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT GAAAATATAAATGGCCACCTATCGATGTTTTTCTGCTTCCTTTTTATCAGGACTTGAGACCAGGAGACGTATCCAGCAAGCGGAACCTCTGGGAAAAGCAATCTGTGGATAAGGTCACTTCCCCCACTAAGGTAATCTATTGGGAAGACTAGTATTTCAGAGGTTTGTTT control 215 173 0.00611517 0 0.003057585 729 405 0 0.0007905512 0.0003952756 0.9886257 0.9914609 0.9383124 0.9944626 -0.9825105 -0.9914609 -0.9383124 -0.9936721 0.9900433 0.9663875 -0.9869857 -0.9659922 0.02099349 TRUE TRUE NA NA NA NA NA CALD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALD1 NA NA NA ENSG00000122786 ENSE00003522806 NA NA NA NA NA NA NA 0.9990977 TRUE NA ENSE00002343755_000 ENSE00002343755 000 17 41901257 41901426 - 42 75 53 NA NA NA NA NA TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA 43823888 43824058 NA NA NA NA NA NA TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA natural NA NA NA NA NA 216 464 0.9899151 1 0.9949576 NA NA 0.9899151 1 NA NA 0 0 NA 0.9949576 NA 0 NA FALSE NA NA NA NA NA NA MPP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MPP3 NA NA NA ENSG00000161647 ENSE00003492800 NA NA NA NA NA NA NA 1.997855e-05 FALSE NA ENSE00002343755_003 ENSE00002343755 003 17 41901257 41901426 - 42 75 53 C T 41901280 2118 147 TCTCAAGCTGAGAGAGGGCACCGTGGACCCACCTCCCCATACCTTGCTCTCCTTTAAGCGATCTTCCTCCTGGGTGGCTGGGATGATTTTTAGGGTGATGGATCCCTGGGACTGGGCCTGAAACGAAAGAGAACAGAAGCTTCTCGCCTACCAGGTCTAACCCTCCAAGA 43823888 43824058 43823911 43823912 43823912 downstr_intron 19 1.463415 TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCACGGTGCCCTCTCTCAGCTTGAGA TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA mutant NA NA NA NA NA 43 97 1 1 1 NA NA 0.9899151 1 NA NA 0.01008489 0 NA 0.9949576 NA 0.005042446 NA FALSE NA 0 0.119 . intron_variant MODIFIER MPP3 HGNC 7221 ENST00000398393 8/17 1 NA GCG C,T 1.655e-05 17:43823912 MPP3 HGNC Symbol protein_coding 32371 ENSG00000161647 ENSE00003492800 intron_variant -0.192951 0.217 0.01569 0.078448 0.1756339 0.0466346 1.997855e-05 FALSE 8.39166e-06 ENSE00002343755_010 ENSE00002343755 010 17 41901257 41901426 - 42 75 53 G A 41901316 2125 111 TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATTGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA 43823888 43824058 43823947 43823948 43823948 exon -18 0.7733333 TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATTGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA mutant NA NA NA NA NA 123 777 0.9835174 0.9988158 0.9911666 NA NA 0.9899151 1 NA NA -0.006397738 -0.001184232 NA 0.9949576 NA -0.003790985 NA FALSE NA 0.99 1.749 . missense_variant MODERATE MPP3 HGNC 7221 ENST00000398393 8/18 rs199616643 1 tolerated(0.09) benign(0.006) NA A:0 A:0.0004 CGA G,A 0.0002151 17:43823948 MPP3 HGNC Symbol protein_coding 32371 ENSG00000161647 ENSE00003492800 missense_variant 3.936715 0.80981 0.85292 0.615465 0.9938063 0 1.997855e-05 FALSE 0.00017337 ENSE00002343755_013 ENSE00002343755 013 17 41901257 41901426 - 42 75 53 G A 41901332 2128 95 TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCTACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA 43823888 43824058 43823963 43823964 43823964 exon -34 0.56 TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCTACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA mutant NA NA NA NA NA 59 24 1 1 1 NA NA 0.9899151 1 NA NA 0.01008489 0 NA 0.9949576 NA 0.005042446 NA FALSE NA 1 0.764 . synonymous_variant LOW MPP3 HGNC 7221 ENST00000398393 8/18 1 NA TGG G,A 8.274e-06 17:43823964 MPP3 HGNC Symbol protein_coding 32371 ENSG00000161647 ENSE00003492800 synonymous_variant 1.403085 0.97616 0.85055 0.615465 0.7913923 0 1.997855e-05 FALSE 4.14635e-06 ENSE00002343755_015 ENSE00002343755 015 17 41901257 41901426 - 42 75 53 T C 41901363 2130 64 TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCGGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA 43823888 43824058 43823994 43823995 43823995 exon 11 0.1466667 TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCGGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA mutant NA NA NA NA NA 602 55 1 0.9971135 0.9985568 NA NA 0.9899151 1 NA NA 0.01008489 -0.002886465 NA 0.9949576 NA 0.003599214 NA FALSE NA 1 4.96 . missense_variant MODERATE MPP3 HGNC 7221 ENST00000398393 8/18 rs373507209 1 tolerated(0.25) benign(0.057) NA C:0.0003 C:0 CTG T,C 2.482e-05 17:43823995 MPP3 HGNC Symbol protein_coding 32371 ENSG00000161647 ENSE00003492800 missense_variant 2.648258 0.99269 0.97562 0.615465 0.9982678 0 1.997855e-05 FALSE 8.32411e-06 ENSE00002343755_024 ENSE00002343755 024 17 41901257 41901426 - 42 75 53 T C 41901412 2139 15 TCTTGGAGGGTTAGGCCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA 43823888 43824058 43824043 43824044 43824044 upstr_intron -39 -0.7169811 TCTTGGAGGGTTAGGCCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA TCTTGGAGGGTTAGACCTGGTAGGCGAGAAGCTTCTGTTCTCTTTCGTTTCAGGCCCAGTCCCAGGGATCCATCACCCTAAAAATCATCCCAGCCACCCAGGAGGAAGATCGCTTAAAGGAGAGCAAGGTATGGGGAGGTGGGTCCGCGGTGCCCTCTCTCAGCTTGAGA mutant NA NA NA NA NA 99 177 0.9872861 1 0.993643 NA NA 0.9899151 1 NA NA -0.002629058 0 NA 0.9949576 NA -0.001314529 NA FALSE NA 0.001 0.056 . intron_variant MODIFIER MPP3 HGNC 7221 ENST00000398393 7/17 rs371022457 1 NA C:0 C:0.0001 GTC T,C 8.273e-06 17:43824044 MPP3 HGNC Symbol protein_coding 32371 ENSG00000161647 ENSE00003492800 intron_variant -0.117026 0.14375 0.02183 0.078448 0.3818715 0.0483255 1.997855e-05 FALSE 4.49289e-06 ENSE00002343757_000 ENSE00002343757 000 1 174652607 174652776 + 53 75 42 NA NA NA NA NA AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCATCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTTTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG 174683468 174683638 NA NA NA NA NA NA AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCATCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTTTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCATCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTTTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG natural NA NA NA NA NA 1222 535 0.9237117 0.9996329 0.9616723 NA NA 0.9237117 0.9996329 NA NA 0 0 NA 0.9616723 NA 0 NA FALSE NA NA NA NA NA NA RABGAP1L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RABGAP1L NA NA NA ENSG00000152061 ENSE00003487654 NA NA NA NA NA NA NA 0.08917271 FALSE NA ENSE00002343757_006 ENSE00002343757 006 1 174652607 174652776 + 53 75 42 A G 174652647 4286 41 AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCGTCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTTTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG 174683468 174683638 174683508 174683509 174683509 upstr_intron -13 -0.2264151 AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCGTCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTTTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCATCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTTTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG mutant NA NA NA NA NA 425 55 1 1 1 NA NA 0.9237117 0.9996329 NA NA 0.07628832 0.0003670518 NA 0.9616723 NA 0.03832768 NA FALSE NA 0 -2.448 . intron_variant MODIFIER RABGAP1L HGNC 24663 ENST00000251507 14/20 1 NA CAT A,G 8.236e-06 1:174683509 RABGAP1L HGNC Symbol protein_coding 835898 ENSG00000152061 ENSE00003487654 intron_variant 0.698084 0.08888 0.00628 0.262962 0.5244017 0.0842801 0.08917271 FALSE 4.19851e-06 ENSE00002343757_014 ENSE00002343757 014 1 174652607 174652776 + 53 75 42 T C 174652708 4294 102 AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCATCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTCTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG 174683468 174683638 174683569 174683570 174683570 exon -27 0.6533333 AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCATCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTCTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG AGTTAAAATCTGTGACTATTTACGATATTTCTTTCTTTTCATCTTTTCTCTAGGCCTACTCTGTGTATGATGAAGACATTGGGTACTGTCAAGGGCAGTCTTTTCTTGCTGCTGTATTACTGCTGCATGTAAGTAATGGTCCGTGTGATAAATAGCACAGTGCTGCCAAG mutant NA NA NA NA NA 63 110 1 1 1 NA NA 0.9237117 0.9996329 NA NA 0.07628832 0.0003670518 NA 0.9616723 NA 0.03832768 NA FALSE NA 1 7.181 . missense_variant MODERATE RABGAP1L HGNC 24663 ENST00000251507 15/21 1 deleterious(0) probably_damaging(0.998) NA TTT T,C 3.295e-05 1:174683570 RABGAP1L HGNC Symbol protein_coding 835898 ENSG00000152061 ENSE00003487654 missense_variant 6.478958 0.9895 0.95689 0.706298 0.9989671 0 0.08917271 FALSE 2.84606e-05 ENSE00002343974_000 ENSE00002343974 000 3 52398607 52398776 + 47 87 36 NA NA NA NA NA AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 NA NA NA NA NA NA TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT natural 66 18 0.85 0.85 0.85 737 1000 0.9804175 0.8376343 0.9090259 0.85 0.85 0.9804175 0.8376343 0 0 0 0 0.85 0.9090259 0 0 0 FALSE FALSE NA NA NA NA NA DNAH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAH1 NA NA NA ENSG00000114841 ENSE00003487386 NA NA NA NA NA NA NA 4.422273e-20 FALSE NA ENSE00002343974_001 ENSE00002343974 001 3 52398607 52398776 + 47 87 36 C T 52398629 1552 23 AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATAGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364612 52364613 52364613 upstr_intron -25 -0.5106383 TTGGAGAGGGACAGTGCTCACCTATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 708 72 1 1 1 0.85 0.85 0.9804175 0.8376343 NA NA 0.01958252 0.1623657 0.85 0.9090259 NA 0.09097412 NA FALSE NA 0 0.101 . intron_variant MODIFIER DNAH1 HGNC 2940 ENST00000420323 32/77 1 NA CCA C,T 8.257e-06 3:52364613 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 intron_variant 0.342938 0.20574 0.02884 0 0.6681601 0.0747412 4.422273e-20 FALSE 4.06696e-06 ENSE00002343974_005 ENSE00002343974 005 3 52398607 52398776 + 47 87 36 T C 52398638 1556 32 AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAGGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364621 52364622 52364622 upstr_intron -16 -0.3191489 TTGGAGAGGGACAGTGCTCACCCATGCCTCCCTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 870 686 0.7991452 0.8 0.7995726 0.85 0.85 0.9804175 0.8376343 NA NA -0.1812723 -0.03763427 0.85 0.9090259 NA -0.1094533 NA FALSE NA 0 -0.326 . intron_variant MODIFIER DNAH1 HGNC 2940 ENST00000420323 32/77 1 NA CTT T,C 8.258e-06 3:52364622 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 intron_variant -0.028779 0.19637 0.02025 0 0.5771213 0.0535699 4.422273e-20 FALSE 4.0654e-06 ENSE00002343974_011 ENSE00002343974 011 3 52398607 52398776 + 47 87 36 C T 52398659 1562 53 AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAATGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364642 52364643 52364643 exon 6 0.06896552 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCATTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 29 609 0.95 0.8049851 0.8774925 0.85 0.85 0.9804175 0.8376343 NA NA -0.03041748 -0.0326492 0.85 0.9090259 NA -0.03153334 NA FALSE NA 1 1.245 . synonymous_variant LOW DNAH1 HGNC 2940 ENST00000420323 33/78 1 NA ACT C,T 8.263e-06 3:52364643 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 synonymous_variant 1.279903 0.98205 0.91041 0.554377 0.6228287 0 4.422273e-20 FALSE 1.62543e-05 ENSE00002343974_014 ENSE00002343974 014 3 52398607 52398776 + 47 87 36 C T 52398680 1565 74 AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACAGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364663 52364664 52364664 exon 27 0.3103448 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCTGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 167 18 0.9811195 1 0.9905598 0.85 0.85 0.9804175 0.8376343 NA NA 0.0007020382 0.1623657 0.85 0.9090259 NA 0.08153388 NA FALSE NA 0.263 -0.285 . synonymous_variant LOW DNAH1 HGNC 2940 ENST00000420323 33/78 1 NA CCG C,T 1.653e-05 3:52364664 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 synonymous_variant 2.403245 0.93594 0.09017 0.646311 0.8174084 0 4.422273e-20 FALSE 1.62526e-05 ENSE00002343974_016 ENSE00002343974 016 3 52398607 52398776 + 47 87 36 C T 52398697 1567 91 AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCAAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364680 52364681 52364681 exon -44 0.5057471 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTTGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 257 232 0.9974094 0.9998358 0.9986226 0.85 0.85 0.9804175 0.8376343 NA NA 0.01699191 0.1622015 0.85 0.9090259 NA 0.08959672 NA FALSE NA 1 4.822 rs61739896 missense_variant MODERATE DNAH1 HGNC 2940 ENST00000420323 33/78 rs61739896 1 possibly_damaging(0.614) T:0.0258 T:0.0923 T:0.0101 NA T:0 T:0 T:0 T:0.0562 T:0.0001 TCG C,T 0.005797 3:52364681 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 missense_variant 5.990881 0.98538 0.95363 0.615465 0.9990661 0 4.422273e-20 FALSE 0.00490507 ENSE00002343974_018 ENSE00002343974 018 3 52398607 52398776 + 47 87 36 G A 52398707 1569 101 AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTTCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364690 52364691 52364691 exon -34 0.6206897 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGAAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 56 58 1 1 1 0.85 0.85 0.9804175 0.8376343 NA NA 0.01958252 0.1623657 0.85 0.9090259 NA 0.09097412 NA FALSE NA 1 1.555 rs149285738 synonymous_variant LOW DNAH1 HGNC 2940 ENST00000420323 33/78 rs149285738 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 GGA G,A 0.0002398 3:52364691 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 synonymous_variant 1.300639 0.9564 0.64378 0.646311 0.6906656 0 4.422273e-20 FALSE 0.000308885 ENSE00002343974_019 ENSE00002343974 019 3 52398607 52398776 + 47 87 36 C G 52398710 1570 104 AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGCTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364693 52364694 52364694 exon -31 0.6551724 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAAGCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 128 139 0.9257119 0.95 0.9378559 0.85 0.85 0.9804175 0.8376343 NA NA -0.05470561 0.1123657 0.85 0.9090259 NA 0.02883006 NA FALSE NA 1 0.993 . missense_variant MODERATE DNAH1 HGNC 2940 ENST00000420323 33/78 1 probably_damaging(0.997) NA ACC C,G 3.308e-05 3:52364694 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 missense_variant 6.210862 0.97121 0.9364 0.646311 0.9982953 0 4.422273e-20 FALSE 2.03293e-05 ENSE00002343974_025 ENSE00002343974 025 3 52398607 52398776 + 47 87 36 G A 52398743 1576 137 AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTTACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364726 52364727 52364727 downstr_intron 3 1.085714 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTAAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 24 320 1 0.999881 0.9999405 0.85 0.85 0.9804175 0.8376343 NA NA 0.01958252 0.1622467 0.85 0.9090259 NA 0.09091461 NA FALSE NA 0.099 -0.068 . splice_region_variant&intron_variant LOW DNAH1 HGNC 2940 ENST00000420323 33/77 1 NA TGA G,A 8.273e-06 3:52364727 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 splice_region_variant 1.426512 0.18642 0.02254 0.078448 0.7632362 0.30346 4.422273e-20 FALSE 1.22708e-05 ENSE00002343974_026 ENSE00002343974 026 3 52398607 52398776 + 47 87 36 C A 52398748 1577 142 AGTTCCACTCCTGGAGCCCTGCTGGGTGTAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364731 52364732 52364732 downstr_intron 8 1.228571 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTACACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 153 48 1 0.9493599 0.97468 0.85 0.85 0.9804175 0.8376343 NA NA 0.01958252 0.1117257 0.85 0.9090259 NA 0.06565409 NA FALSE NA 0 0.293 . splice_region_variant&intron_variant LOW DNAH1 HGNC 2940 ENST00000420323 33/77 1 NA TCC C,A 8.273e-06 3:52364732 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 splice_region_variant 1.702624 0.23742 0.06982 0.078448 0.7319074 0.223145 4.422273e-20 FALSE 4.10378e-06 ENSE00002343974_027 ENSE00002343974 027 3 52398607 52398776 + 47 87 36 G A 52398755 1578 149 AGTTCCACTCCTGGAGCCCTGTTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364738 52364739 52364739 downstr_intron 15 1.428571 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAACAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 1038 65 0.9913774 0.9994124 0.9953949 0.85 0.85 0.9804175 0.8376343 NA NA 0.0109599 0.1617781 0.85 0.9090259 NA 0.08636899 NA FALSE NA 0 0.103 rs146246273 intron_variant MODIFIER DNAH1 HGNC 2940 ENST00000420323 33/77 rs146246273 1 A:0.0004 A:0 A:0 NA A:0.001 A:0.001 A:0 AGC G,A 2.482e-05 3:52364739 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 intron_variant 0.230837 0.17776 0.02535 0.078448 0.615468 0.0719227 4.422273e-20 FALSE 4.5291e-05 ENSE00002343974_030 ENSE00002343974 030 3 52398607 52398776 + 47 87 36 A G 52398765 1581 159 AGTTCCACTCCCGGAGCCCTGCTGGGTGGAGCTCACCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCCTGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 52364748 52364749 52364749 downstr_intron 25 1.714286 TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCGGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT mutant NA NA NA NA NA 58 150 0.9791229 0.9958345 0.9874787 0.85 0.85 0.9804175 0.8376343 NA NA -0.001294602 0.1582002 0.85 0.9090259 NA 0.07845281 NA FALSE NA 0 -0.737 . intron_variant MODIFIER DNAH1 HGNC 2940 ENST00000420323 33/77 rs373597402 1 NA G:0 G:0.0001 CAG A,G 3.309e-05 3:52364749 DNAH1 HGNC Symbol protein_coding 84172 ENSG00000114841 ENSE00003487386 intron_variant 0.076686 0.05366 5e-04 0.078448 0.5467951 0.0725016 4.422273e-20 FALSE 2.07113e-05 ENSE00002343974_BRK ENSE00002343974 BRK 3 52398607 52398776 + 47 87 36 A,G; T,T NA NA NA AGTTCCACTCCTGGAGCCCTGCTGGGTGGAGCTCGGCTCATTCATGCTGGGGTTTTCTCGCTTGAGGTTCCCAGCAGCCGAGATCACAGTTTTCACGGCTCTCATCCCGAAGTCATAGTGATCAAGTCGCCATACAGAAGGAGGCATGGGTGAGCACTGTCCCTCTCCAA 52364590 52364760 NA NA NA NA NA NA TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACTTGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGCCGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT TTGGAGAGGGACAGTGCTCACCCATGCCTCCTTCTGTATGGCGACAGGATCACTATGACTTCGGGATGAGAGCCGTGAAAACTGTGATCTCGGCTGCTGGGAACCTCAAGCGAGAAAACCCCAGCATGAATGAGGTGAGCTCCACCCAGCAGGGCTCCAGGAGTGGAACT control NA NA NA NA NA 148 693 0 0 0 0.85 0.85 0.9804175 0.8376343 NA NA -0.9804175 -0.8376343 0.85 0.9090259 NA -0.9090259 NA TRUE NA NA NA NA NA NA DNAH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DNAH1 NA NA NA ENSG00000114841 ENSE00003487386 NA NA NA NA NA NA NA 4.422273e-20 FALSE NA ENSE00002344191_000 ENSE00002344191 000 6 146247307 146247476 - 33 93 44 NA NA NA NA NA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 NA NA NA NA NA NA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA natural 14 12 0.994226 1 0.997113 5939 4848 0.8896324 0.8588035 0.874218 0.994226 1 0.8896324 0.8588035 0 0 0 0 0.997113 0.874218 0 0 0 FALSE FALSE NA NA NA NA NA SHPRH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SHPRH NA NA NA ENSG00000146414 ENSE00003632897 NA NA NA NA NA NA NA 0.4913082 FALSE NA ENSE00002344191_001 ENSE00002344191 001 6 146247307 146247476 - 33 93 44 A G 146247318 2369 159 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGCCTATAAAAGTA 145926170 145926340 145926181 145926182 145926182 downstr_intron 22 1.6875 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGCCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 153 369 1 0.9998968 0.9999484 0.994226 1 0.8896324 0.8588035 NA NA 0.1103676 0.1410933 0.997113 0.874218 NA 0.1257304 NA FALSE NA 0 0.019 . intron_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/7 1 NA GAC A,G 8.28e-06 6:145926182 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 intron_variant 0.234829 0.2819 0.04362 0.099367 0.4476629 0.174901 0.4913082 FALSE 4.10233e-06 ENSE00002344191_002 ENSE00002344191 002 6 146247307 146247476 - 33 93 44 T C 146247324 2370 153 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCGTTCTGTCTATAAAAGTA 145926170 145926340 145926187 145926188 145926188 downstr_intron 16 1.5 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCGTTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 1029 325 0.9753228 1 0.9876614 0.994226 1 0.8896324 0.8588035 NA NA 0.08569031 0.1411965 0.997113 0.874218 NA 0.1134434 NA FALSE NA 0 -0.173 . intron_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/7 rs367552175 1 NA C:0 C:0.0001 ATG T,C 3.312e-05 6:145926188 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 intron_variant 0.802245 0.25064 0.1028 0.099367 0.6324599 0.208934 0.4913082 FALSE 2.04742e-05 ENSE00002344191_003 ENSE00002344191 003 6 146247307 146247476 - 33 93 44 C G 146247348 2371 129 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTCAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926211 145926212 145926212 exon -9 0.9139785 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTCAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 145 425 0.9864863 0.9943849 0.9904356 0.994226 1 0.8896324 0.8588035 NA NA 0.0968538 0.1355814 0.997113 0.874218 NA 0.1162176 NA FALSE NA 0.985 1.262 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA TCA C,G 8.277e-06 6:145926212 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 missense_variant 1.878138 0.95087 0.88564 0.706548 0.9519084 0 0.4913082 FALSE 4.07784e-06 ENSE00002344191_004 ENSE00002344191 004 6 146247307 146247476 - 33 93 44 C A 146247353 2372 124 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCTACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926216 145926217 145926217 exon -14 0.8602151 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCTACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 353 858 0.9824636 0.9968796 0.9896716 0.994226 1 0.8896324 0.8588035 NA NA 0.09283115 0.1380761 0.997113 0.874218 NA 0.1154536 NA FALSE NA 0.866 1.529 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA TCG C,A 8.277e-06 6:145926217 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 missense_variant 3.864717 0.97456 0.94353 0.706548 0.9935192 0 0.4913082 FALSE 8.15335e-06 ENSE00002344191_006 ENSE00002344191 006 6 146247307 146247476 - 33 93 44 A G 146247361 2374 116 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGCGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926224 145926225 145926225 exon -22 0.7741935 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGCGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 91 2728 0.9995469 0.9989044 0.9992256 0.994226 1 0.8896324 0.8588035 NA NA 0.1099144 0.1401009 0.997113 0.874218 NA 0.1250077 NA FALSE NA 1 2.474 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 rs372133486 1 NA G:0 G:0.0001 CAC A,G 2.483e-05 6:145926225 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 synonymous_variant 0.418456 0.97882 0.8761 0.706548 0.7262832 0 0.4913082 FALSE 1.22202e-05 ENSE00002344191_007 ENSE00002344191 007 6 146247307 146247476 - 33 93 44 C T 146247362 2375 115 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCATGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926225 145926226 145926226 exon -23 0.7634409 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCATGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 109 193 0.9971762 0.8026138 0.899895 0.994226 1 0.8896324 0.8588035 NA NA 0.1075437 -0.0561897 0.997113 0.874218 NA 0.02567702 NA FALSE NA 1 7.388 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA ACG C,T 3.311e-05 6:145926226 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 missense_variant 8.047374 0.99479 0.99021 0.706548 0.9994355 0 0.4913082 FALSE 4.88874e-05 ENSE00002344191_008 ENSE00002344191 008 6 146247307 146247476 - 33 93 44 G T 146247372 2376 105 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCAACTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926235 145926236 145926236 exon -33 0.655914 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCAACTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 2260 596 0.9982789 0.9991388 0.9987088 0.994226 1 0.8896324 0.8588035 NA NA 0.1086464 0.1403353 0.997113 0.874218 NA 0.1244909 NA FALSE NA 1 9.347 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA GGT G,T 8.276e-06 6:145926236 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 missense_variant 6.056893 0.99506 0.99471 0.706548 0.9977431 0 0.4913082 FALSE 4.07166e-06 ENSE00002344191_009 ENSE00002344191 009 6 146247307 146247476 - 33 93 44 C T 146247379 2377 98 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGAATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926242 145926243 145926243 exon -40 0.5806452 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGAATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 1209 691 0.9988573 0.9962802 0.9975687 0.994226 1 0.8896324 0.8588035 NA NA 0.1092248 0.1374767 0.997113 0.874218 NA 0.1233508 NA FALSE NA 0.154 -0.558 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA TCC C,T 1.655e-05 6:145926243 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 synonymous_variant 1.742101 0.7607 0.07453 0.706548 0.6147762 0 0.4913082 FALSE 1.22125e-05 ENSE00002344191_011 ENSE00002344191 011 6 146247307 146247476 - 33 93 44 T C 146247390 2379 87 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCGGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926253 145926254 145926254 exon 43 0.4623656 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCGGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 581 719 0.9998583 0.9909652 0.9954117 0.994226 1 0.8896324 0.8588035 NA NA 0.1102258 0.1321617 0.997113 0.874218 NA 0.1211938 NA FALSE NA 1 7.596 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA CTG T,C 3.31e-05 6:145926254 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 missense_variant 4.156528 0.98854 0.98586 0.706548 0.9958439 0 0.4913082 FALSE 2.44234e-05 ENSE00002344191_012 ENSE00002344191 012 6 146247307 146247476 - 33 93 44 C T 146247393 2380 84 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAACCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926256 145926257 145926257 exon 40 0.4301075 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAACCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 592 1564 0.9992225 0.9484492 0.9738359 0.994226 1 0.8896324 0.8588035 NA NA 0.1095901 0.08964569 0.997113 0.874218 NA 0.09961789 NA FALSE NA 1 7.388 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA GCT C,T 8.274e-06 6:145926257 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 missense_variant 4.289012 0.99479 0.99021 0.706548 0.9990722 0 0.4913082 FALSE NA ENSE00002344191_013 ENSE00002344191 013 6 146247307 146247476 - 33 93 44 A G 146247399 2381 78 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGCTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926262 145926263 145926263 exon 34 0.3655914 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGCTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 1848 359 0.9981595 0.9995592 0.9988593 0.994226 1 0.8896324 0.8588035 NA NA 0.108527 0.1407557 0.997113 0.874218 NA 0.1246414 NA FALSE NA 0.987 1.282 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA AAC A,G 8.275e-06 6:145926263 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 synonymous_variant 0.619431 0.97261 0.71711 0.706548 0.6006857 0 0.4913082 FALSE 4.07083e-06 ENSE00002344191_014 ENSE00002344191 014 6 146247307 146247476 - 33 93 44 T C 146247403 2382 74 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAGTTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926266 145926267 145926267 exon 30 0.3225806 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAGTTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 1131 807 0.9994529 0.9956362 0.9975446 0.994226 1 0.8896324 0.8588035 NA NA 0.1098205 0.1368327 0.997113 0.874218 NA 0.1233266 NA FALSE NA 1 0.554 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA ATT T,C 8.275e-06 6:145926267 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 synonymous_variant 0.671705 0.96727 0.82087 0.706548 0.6218868 0 0.4913082 FALSE 4.0712e-06 ENSE00002344191_015 ENSE00002344191 015 6 146247307 146247476 - 33 93 44 C G 146247405 2383 72 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGCAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926268 145926269 145926269 exon 28 0.3010753 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGCAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 607 105 0.9932096 0.992797 0.9930033 0.994226 1 0.8896324 0.8588035 NA NA 0.1035772 0.1339935 0.997113 0.874218 NA 0.1187853 NA FALSE NA 1 7.413 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA TCC C,G 8.275e-06 6:145926269 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 missense_variant 4.624284 0.99505 0.99577 0.706548 0.9984728 0 0.4913082 FALSE 4.07126e-06 ENSE00002344191_016 ENSE00002344191 016 6 146247307 146247476 - 33 93 44 T C 146247416 2384 61 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCGTAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926279 145926280 145926280 exon 17 0.1827957 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCGTAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 1739 309 0.8768253 0.9767538 0.9267895 0.994226 1 0.8896324 0.8588035 NA NA -0.01280717 0.1179503 0.997113 0.874218 NA 0.05257157 NA FALSE NA 1 7.621 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 1 NA ATG T,C 1.655e-05 6:145926280 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 missense_variant 5.728762 0.99302 0.99487 0.706548 0.9978178 0 0.4913082 FALSE 4.07282e-06 ENSE00002344191_017 ENSE00002344191 017 6 146247307 146247476 - 33 93 44 A G 146247424 2385 53 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCACGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926287 145926288 145926288 exon 9 0.09677419 TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCACGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 298 1038 0.9590065 0.9992633 0.9791349 0.994226 1 0.8896324 0.8588035 NA NA 0.06937406 0.1404599 0.997113 0.874218 NA 0.104917 NA FALSE NA 1 1.914 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 2/8 rs574977870 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAT A,G 3.31e-05 6:145926288 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 synonymous_variant 0.579034 0.97176 0.91909 0.706548 0.5424164 0 0.4913082 FALSE 2.03737e-05 ENSE00002344191_018 ENSE00002344191 018 6 146247307 146247476 - 33 93 44 G A 146247453 2386 24 TTCTGCATTGACTGTCATAATTATTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926316 145926317 145926317 upstr_intron -21 -0.4545455 TTCTGCATTGACTGTCATAATTATTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 1069 345 0.998995 1 0.9994975 0.994226 1 0.8896324 0.8588035 NA NA 0.1093626 0.1411965 0.997113 0.874218 NA 0.1252796 NA FALSE NA 0 -1.51 . intron_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 1/7 1 NA AGT G,A 1.655e-05 6:145926317 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 intron_variant 0.64313 0.07816 0.00279 0.088506 0.4479525 0.271344 0.4913082 FALSE 1.63768e-05 ENSE00002344191_019 ENSE00002344191 019 6 146247307 146247476 - 33 93 44 G A 146247461 2387 16 TTCTGCATTGACTGTTATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926324 145926325 145926325 upstr_intron -29 -0.6363636 TTCTGCATTGACTGTTATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 1782 891 0.9867123 0.9988759 0.9927941 0.994226 1 0.8896324 0.8588035 NA NA 0.09707986 0.1400725 0.997113 0.874218 NA 0.1185762 NA FALSE NA 0 0.412 . intron_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 1/7 1 NA TGA G,A 8.277e-06 6:145926325 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 intron_variant 1.304191 0.2511 0.07468 0.088506 0.7191229 0.272961 0.4913082 FALSE NA ENSE00002344191_020 ENSE00002344191 020 6 146247307 146247476 - 33 93 44 C G 146247463 2388 14 TTCTGCATTGACTCTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926326 145926327 145926327 upstr_intron -31 -0.6818182 TTCTGCATTGACTCTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 451 2117 0.8886982 0.9981846 0.9434414 0.994226 1 0.8896324 0.8588035 NA NA -0.0009342066 0.1393811 0.997113 0.874218 NA 0.06922344 NA FALSE NA 0.016 -0.195 . intron_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 1/7 rs544322061 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 ACA C,G 8.276e-06 6:145926327 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 intron_variant 1.127783 0.23663 0.02304 0.088506 0.7513036 0.196964 0.4913082 FALSE 4.11238e-06 ENSE00002344191_021 ENSE00002344191 021 6 146247307 146247476 - 33 93 44 G A 146247465 2389 12 TTCTGCATTGATTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926328 145926329 145926329 upstr_intron -33 -0.7272727 TTCTGCATTGATTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 1123 2687 0.9473744 0.998988 0.9731812 0.994226 1 0.8896324 0.8588035 NA NA 0.057742 0.1401845 0.997113 0.874218 NA 0.09896327 NA FALSE NA 0.001 -0.017 . intron_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 1/7 1 NA AGT G,A 8.276e-06 6:145926329 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 intron_variant 1.110353 0.27439 0.05949 0.088506 0.7047836 0.265298 0.4913082 FALSE 4.11286e-06 ENSE00002344191_022 ENSE00002344191 022 6 146247307 146247476 - 33 93 44 T A 146247466 2390 11 TTCTGCATTGTCTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 145926329 145926330 145926330 upstr_intron -34 -0.75 TTCTGCATTGTCTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA mutant NA NA NA NA NA 288 92 0.9978648 1 0.9989324 0.994226 1 0.8896324 0.8588035 NA NA 0.1082323 0.1411965 0.997113 0.874218 NA 0.1247144 NA FALSE NA 0 -0.966 . intron_variant&non_coding_transcript_variant MODIFIER SHPRH HGNC 19336 ENST00000523276 1/7 1 NA GTC T,A 1.655e-05 6:145926330 SHPRH HGNC Symbol protein_coding 100178 ENSG00000146414 ENSE00003632897 intron_variant 1.37855 0.19021 0.02766 0.088506 0.7942215 0.167898 0.4913082 FALSE 1.23318e-05 ENSE00002344191_BRK ENSE00002344191 BRK 6 146247307 146247476 - 33 93 44 A,G; T,T NA NA NA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTTTAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGCCAATTATTTTTTTCATTCTGTCTATAAAAGTA 145926170 145926340 NA NA NA NA NA NA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTTTAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGCCAATTATTTTTTTCATTCTGTCTATAAAAGTA TTCTGCATTGACTGTCATAATTACTGCCTTTGATATGTTTGTAGAGACTTCATGCTACCCATAACTTGATGGAATTGTTGATAGCCAGGCACCCAGGGATACCACCTACCTTGCGTGATGGCCGACTTGAGGAAGAGGTAATTATTTTTTTCATTCTGTCTATAAAAGTA control NA NA NA NA NA 714 634 0 0.0005047345 0.0002523672 0.994226 1 0.8896324 0.8588035 NA NA -0.8896324 -0.8582988 0.997113 0.874218 NA -0.8739656 NA TRUE NA NA NA NA NA NA SHPRH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SHPRH NA NA NA ENSG00000146414 ENSE00003632897 NA NA NA NA NA NA NA 0.4913082 FALSE NA ENSE00002344200_000 ENSE00002344200 000 2 220367044 220367213 + 60 60 50 NA NA NA NA NA AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 NA NA NA NA NA NA AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC natural 82 138 0.9902642 0.9941607 0.9922125 1312 1748 0.9902851 0.9979822 0.9941337 0.9902642 0.9941607 0.9902851 0.9979822 0 0 0 0 0.9922125 0.9941337 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003634457 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00002344200_003 ENSE00002344200 003 2 220367044 220367213 + 60 60 50 C G 220367061 4796 18 AAACAGACGTGGCTGCCGTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502338 219502339 219502339 upstr_intron -43 -0.7 AAACAGACGTGGCTGCCGTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 1070 363 0.9993553 1 0.9996776 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009070122 0.002017827 0.9922125 0.9941337 NA 0.005543974 NA FALSE NA 0.058 0.446 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003634457 intron_variant 0.683258 0.16854 0.06024 0.092769 0.7295665 0.410606 4.676361e-13 FALSE 4.07604e-06 ENSE00002344200_012 ENSE00002344200 012 2 220367044 220367213 + 60 60 50 G A 220367085 4805 42 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCAGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502362 219502363 219502363 upstr_intron -19 -0.3 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCAGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 197 427 1 1 1 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 0.002017827 0.9922125 0.9941337 NA 0.005866341 NA FALSE NA 0 -2.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003634457 intron_variant 1.340208 0.13866 0.02983 0.184171 0.9087098 0.284446 0.454891 FALSE 1.62882e-05 ENSE00002344200_021 ENSE00002344200 021 2 220367044 220367213 + 60 60 50 C A 220367139 4814 96 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATAGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502416 219502417 219502417 exon -25 0.6 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATAGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 595 1047 0.6481015 0.6917528 0.6699272 0.9902642 0.9941607 0.9902851 0.9979822 NA NA -0.3421837 -0.3062293 0.9922125 0.9941337 NA -0.3242065 NA FALSE NA 0.014 -1.119 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003634457 synonymous_variant 3.554921 0.95121 0.28561 0.706298 0.8937874 0 0.0002572748 FALSE 2.84437e-05 ENSE00002344200_036 ENSE00002344200 036 2 220367044 220367213 + 60 60 50 G A 220367203 4829 160 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTATCATCATCCC 219502321 219502491 219502480 219502481 219502481 downstr_intron 40 1.816327 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTATCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 81 830 1 0.9986591 0.9993296 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 0.0006769462 0.9922125 0.9941337 NA 0.0051959 NA FALSE NA 0 -1.293 NA NA NA GMPPA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GMPPA NA NA NA ENSG00000144591 ENSE00003634457 intron_variant 1.087582 0.11409 0.0215 0.106106 0.8208692 0.0522185 2.352374e-06 FALSE 4.16986e-06 ENSE00002344200_BRK ENSE00002344200 BRK 2 220367044 220367213 + 60 60 50 A,G; T,T NA NA NA AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCTTGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGCCGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 NA NA NA NA NA NA AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCTTGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGCCGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC control 148 42 0 0 0 NA NA NA NA NA 0.9902642 0.9941607 0.9902851 0.9979822 -0.9902642 -0.9941607 NA NA 0.9922125 0.9941337 -0.9922125 NA NA NA TRUE NA NA NA NA NA GMPPA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GMPPA NA NA NA ENSG00000144591 ENSE00003634457 NA NA NA NA NA NA NA 2.352374e-06 FALSE NA ENSE00002344938_000 ENSE00002344938 000 2 219538551 219538720 + 51 78 41 NA NA NA NA NA CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 NA NA NA NA NA NA CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT natural NA NA NA NA NA 2329 1840 0.9728055 0.915807 0.9443062 NA NA 0.9728055 0.915807 NA NA 0 0 NA 0.9443062 NA 0 NA FALSE NA NA NA NA NA NA STK36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK36 NA NA NA ENSG00000163482 ENSE00003665872 NA NA NA NA NA NA NA 3.752539e-07 FALSE NA ENSE00002344938_001 ENSE00002344938 001 2 219538551 219538720 + 51 78 41 A C 219538561 4677 11 CTCAGAATGCCTGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673837 218673838 218673838 upstr_intron -41 -0.7843137 CTCAGAATGCCTGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 723 105 1 0.9570199 0.97851 NA NA 0.9728055 0.915807 NA NA 0.02719452 0.04121291 NA 0.9443062 NA 0.03420372 NA FALSE NA 0.008 1.258 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 3/26 1 NA CAT A,C 1.647e-05 2:218673838 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 0.519506 0.24555 0.10605 0.062308 0.8123964 0.311933 3.752539e-07 FALSE 8.13425e-06 ENSE00002344938_002 ENSE00002344938 002 2 219538551 219538720 + 51 78 41 G T 219538563 4678 13 CTCAGAATGCATTAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673839 218673840 218673840 upstr_intron -39 -0.745098 CTCAGAATGCATTAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 387 885 0.9790931 0.9950994 0.9870963 NA NA 0.9728055 0.915807 NA NA 0.006287629 0.07929244 NA 0.9443062 NA 0.04279003 NA FALSE NA 0.004 -0.001 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 3/26 1 NA TGA G,T 8.236e-06 2:218673840 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 1.066968 0.30889 0.09219 0.062308 0.7883593 0.318577 3.752539e-07 FALSE 4.06745e-06 ENSE00002344938_003 ENSE00002344938 003 2 219538551 219538720 + 51 78 41 T G 219538568 4679 18 CTCAGAATGCATGAATCGGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673844 218673845 218673845 upstr_intron -34 -0.6470588 CTCAGAATGCATGAATCGGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 44 608 0.9546098 1 0.9773049 NA NA 0.9728055 0.915807 NA NA -0.01819564 0.08419301 NA 0.9443062 NA 0.03299868 NA FALSE NA 0 -0.109 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 3/26 1 NA CTG T,G 1.647e-05 2:218673845 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 1.523577 0.32083 0.11394 0.062308 0.8463204 0.160953 3.752539e-07 FALSE 1.21969e-05 ENSE00002344938_005 ENSE00002344938 005 2 219538551 219538720 + 51 78 41 G T 219538579 4681 29 CTCAGAATGCATGAATCTGGAGCCATCATTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673855 218673856 218673856 upstr_intron -23 -0.4313725 CTCAGAATGCATGAATCTGGAGCCATCATTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 134 34 0.9972027 1 0.9986014 NA NA 0.9728055 0.915807 NA NA 0.02439726 0.08419301 NA 0.9443062 NA 0.05429513 NA FALSE NA 0 -0.314 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 3/26 1 NA AGT G,T 8.236e-06 2:218673856 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 1.520852 0.2033 0.05084 0.062308 0.7865267 0.23509 3.752539e-07 FALSE 8.12889e-06 ENSE00002344938_007 ENSE00002344938 007 2 219538551 219538720 + 51 78 41 G A 219538587 4683 37 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTACCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673863 218673864 218673864 upstr_intron -15 -0.2745098 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTACCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 102 142 0.9861942 0.976293 0.9812436 NA NA 0.9728055 0.915807 NA NA 0.01338875 0.06048597 NA 0.9443062 NA 0.03693736 NA FALSE NA 0.001 0.071 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 3/26 1 NA TGC G,A 8.236e-06 2:218673864 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 1.789857 0.23801 0.05052 0.062308 0.7680668 0.400635 3.752539e-07 FALSE 8.12711e-06 ENSE00002344938_009 ENSE00002344938 009 2 219538551 219538720 + 51 78 41 G C 219538602 4685 52 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGCTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673878 218673879 218673879 exon 1 0.01282051 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGCTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 56 79 0.9132383 0.8 0.8566191 NA NA 0.9728055 0.915807 NA NA -0.05956722 -0.115807 NA 0.9443062 NA -0.08768711 NA FALSE NA 1 6.126 . missense_variant&splice_region_variant MODERATE STK36 HGNC 17209 ENST00000392105 4/27 1 deleterious(0) benign(0.03) NA GGT G,C 5.766e-05 2:218673879 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 missense_variant 3.967863 0.99121 0.99036 0.661447 0.9976786 0 3.752539e-07 FALSE 4.06204e-05 ENSE00002344938_010 ENSE00002344938 010 2 219538551 219538720 + 51 78 41 G A 219538605 4686 55 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGATGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673881 218673882 218673882 exon 4 0.05128205 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGATGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 122 474 1 0.9932675 0.9966337 NA NA 0.9728055 0.915807 NA NA 0.02719452 0.0774605 NA 0.9443062 NA 0.05232751 NA FALSE NA 1 7.397 . missense_variant MODERATE STK36 HGNC 17209 ENST00000392105 4/27 rs561999513 1 deleterious(0) possibly_damaging(0.888) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGT G,A 1.647e-05 2:218673882 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 missense_variant 6.171546 0.99457 0.99377 0.661447 0.9986344 0 3.752539e-07 FALSE 8.12275e-06 ENSE00002344938_011 ENSE00002344938 011 2 219538551 219538720 + 51 78 41 G C 219538613 4687 63 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTCACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673889 218673890 218673890 exon 12 0.1538462 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTCACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 60 1097 1 0.9998959 0.9999479 NA NA 0.9728055 0.915807 NA NA 0.02719452 0.08408886 NA 0.9443062 NA 0.05564169 NA FALSE NA 0.999 0.479 . synonymous_variant LOW STK36 HGNC 17209 ENST00000392105 4/27 1 NA TGA G,C 1.647e-05 2:218673890 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 synonymous_variant 0.728885 0.96967 0.89631 0.661447 0.7647164 0 3.752539e-07 FALSE 8.12229e-06 ENSE00002344938_012 ENSE00002344938 012 2 219538551 219538720 + 51 78 41 T C 219538622 4688 72 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTACGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673898 218673899 218673899 exon 21 0.2692308 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTACGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 373 321 1 0.9890033 0.9945016 NA NA 0.9728055 0.915807 NA NA 0.02719452 0.07319626 NA 0.9443062 NA 0.05019539 NA FALSE NA 0.977 0.363 . synonymous_variant LOW STK36 HGNC 17209 ENST00000392105 4/27 rs370460437 1 NA C:0 C:0.0001 ATG T,C 2.471e-05 2:218673899 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 synonymous_variant -0.513463 0.98759 0.86756 0.661447 0.8937951 0 3.752539e-07 FALSE 1.62439e-05 ENSE00002344938_017 ENSE00002344938 017 2 219538551 219538720 + 51 78 41 C G 219538647 4693 97 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCGTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673923 218673924 218673924 exon -33 0.5897436 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCGTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 484 640 0.9929598 1 0.9964799 NA NA 0.9728055 0.915807 NA NA 0.02015436 0.08419301 NA 0.9443062 NA 0.05217368 NA FALSE NA 1 1.923 . missense_variant MODERATE STK36 HGNC 17209 ENST00000392105 4/27 1 deleterious(0) benign(0.382) NA CCT C,G 8.236e-06 2:218673924 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 missense_variant 4.977199 0.98182 0.95003 0.661447 0.9983529 0 3.752539e-07 FALSE 4.06207e-06 ENSE00002344938_019 ENSE00002344938 019 2 219538551 219538720 + 51 78 41 A G 219538649 4695 99 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTGGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673925 218673926 218673926 exon -31 0.6153846 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTGGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 65 353 1 1 1 NA NA 0.9728055 0.915807 NA NA 0.02719452 0.08419301 NA 0.9443062 NA 0.05569376 NA FALSE NA 0.999 0.277 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:218673926 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 synonymous_variant 0.245041 0.93988 0.25873 0.661447 0.6633181 0 3.752539e-07 FALSE 4.06213e-06 ENSE00002344938_022 ENSE00002344938 022 2 219538551 219538720 + 51 78 41 A G 219538682 4698 132 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTGTGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673958 218673959 218673959 downstr_intron 3 1.075 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTGTGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 96 479 0.9362478 0.9910248 0.9636363 NA NA 0.9728055 0.915807 NA NA -0.0365577 0.07521777 NA 0.9443062 NA 0.01933003 NA FALSE NA 1 3.18 NA NA NA STK36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:218673959 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 splice_region_variant 1.857779 0.97559 0.65555 0.099367 0.9456474 0.569043 3.752539e-07 FALSE 1.22817e-05 ENSE00002344938_025 ENSE00002344938 025 2 219538551 219538720 + 51 78 41 G A 219538684 4701 134 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATACTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 218673960 218673961 218673961 downstr_intron 5 1.125 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATACTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 933 410 0.9374244 1 0.9687122 NA NA 0.9728055 0.915807 NA NA -0.03538106 0.08419301 NA 0.9443062 NA 0.02440597 NA FALSE NA 0.122 0.316 . splice_region_variant&intron_variant LOW STK36 HGNC 17209 ENST00000392105 4/26 1 NA TGC G,A 8.237e-06 2:218673961 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 splice_region_variant 1.440441 0.28635 0.02878 0.062308 0.8379766 0.445914 3.752539e-07 FALSE 4.10014e-06 ENSE00002344938_026 ENSE00002344938 026 2 219538551 219538720 + 51 78 41 C T 219538702 4702 152 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTTTCCCCACCTCCGACCTCT 218673827 218673997 218673978 218673979 218673979 downstr_intron 23 1.575 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTTTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 134 134 0.9861411 1 0.9930706 NA NA 0.9728055 0.915807 NA NA 0.01333566 0.08419301 NA 0.9443062 NA 0.04876433 NA FALSE NA 0 -0.113 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 4/26 1 NA TCT C,T 8.24e-06 2:218673979 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 0.546223 0.18364 0.00754 0.062308 0.7338934 0.0602864 3.752539e-07 FALSE 4.31473e-06 ENSE00002344938_027 ENSE00002344938 027 2 219538551 219538720 + 51 78 41 C G 219538704 4703 154 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTGCCCACCTCCGACCTCT 218673827 218673997 218673980 218673981 218673981 downstr_intron 25 1.625 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTGCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 212 2385 0.9556823 0.9981217 0.976902 NA NA 0.9728055 0.915807 NA NA -0.01712321 0.0823147 NA 0.9443062 NA 0.03259574 NA FALSE NA 0 0.003 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 4/26 1 NA TCC C,G 1.648e-05 2:218673981 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 0.43274 0.22554 0.12715 0.062308 0.6013148 0.0767005 3.752539e-07 FALSE 3.45155e-05 ENSE00002344938_028 ENSE00002344938 028 2 219538551 219538720 + 51 78 41 C T 219538706 4704 156 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCTCACCTCCGACCTCT 218673827 218673997 218673982 218673983 218673983 downstr_intron 27 1.675 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCTCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 226 388 0.9959237 0.9967982 0.996361 NA NA 0.9728055 0.915807 NA NA 0.02311824 0.08099124 NA 0.9443062 NA 0.05205474 NA FALSE NA 0 -1.7 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 4/26 1 NA CCC C,T 2.472e-05 2:218673983 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 0.364742 0.14075 0.01343 0.062308 0.7101833 0.0767005 3.752539e-07 FALSE 2.64126e-05 ENSE00002344938_029 ENSE00002344938 029 2 219538551 219538720 + 51 78 41 C G 219538707 4705 157 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCGACCTCCGACCTCT 218673827 218673997 218673983 218673984 218673984 downstr_intron 28 1.7 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCGACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 713 216 0.9952289 0.9908804 0.9930547 NA NA 0.9728055 0.915807 NA NA 0.02242343 0.07507341 NA 0.9443062 NA 0.04874842 NA FALSE NA 0 -1.264 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 4/26 1 NA CCA C,G 8.241e-06 2:218673984 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 0.25953 0.15166 0.02745 0.062308 0.5457618 0.0767005 3.752539e-07 FALSE 4.40129e-06 ENSE00002344938_030 ENSE00002344938 030 2 219538551 219538720 + 51 78 41 C T 219538709 4706 159 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCATCTCCGACCTCT 218673827 218673997 218673985 218673986 218673986 downstr_intron 30 1.75 CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCATCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT mutant NA NA NA NA NA 336 25 0.994017 1 0.9970085 NA NA 0.9728055 0.915807 NA NA 0.02121157 0.08419301 NA 0.9443062 NA 0.05270229 NA FALSE NA 0 -0.132 . intron_variant MODIFIER STK36 HGNC 17209 ENST00000392105 4/26 1 NA ACC C,T 8.243e-06 2:218673986 STK36 HGNC Symbol protein_coding 30690 ENSG00000163482 ENSE00003665872 intron_variant 0.246852 0.18618 0.04773 0.062308 0.6353386 0.0767005 3.752539e-07 FALSE NA ENSE00002344938_BRK ENSE00002344938 BRK 2 219538551 219538720 + 51 78 41 A,G; T,T NA NA NA CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTTTGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGCCATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT 218673827 218673997 NA NA NA NA NA NA CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTTTGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGCCATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT CTCAGAATGCATGAATCTGGAGCCATCAGTGCCACTGCCTTCTCTCTGTAGGTGGTGGTGGTGACAGACTATGCTGAGGGAGAGCTCTTTCAGATCCTAGAAGATGACGGAAAACTTCCTGAAGACCAGGTATGCTTTCTGCCTTCAACTTCTCCCCACCTCCGACCTCT control NA NA NA NA NA 3312 462 0.007202729 0.00208409 0.004643409 NA NA 0.9728055 0.915807 NA NA -0.9656027 -0.9137229 NA 0.9443062 NA -0.9396628 NA TRUE NA NA NA NA NA NA STK36 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK36 NA NA NA ENSG00000163482 ENSE00003665872 NA NA NA NA NA NA NA 3.752539e-07 FALSE NA ENSE00002345132_000 ENSE00002345132 000 2 118732372 118732541 - 54 51 65 NA NA NA NA NA GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 NA NA NA NA NA NA GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG natural 292 118 0.9625853 0.9978005 0.9801929 1323 3455 0.9420228 0.8579793 0.900001 0.9625853 0.9978005 0.9420228 0.8579793 0 0 0 0 0.9801929 0.900001 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC93 NA NA NA ENSG00000125633 ENSE00003597780 NA NA NA NA NA NA NA 0.06437526 FALSE NA ENSE00002345132_001 ENSE00002345132 001 2 118732372 118732541 - 54 51 65 T G 118732408 2535 134 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGCGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 117974831 117974832 117974832 downstr_intron 18 1.339623 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGCGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG mutant NA NA NA NA NA 400 368 0.9949816 0.9872275 0.9911046 0.9625853 0.9978005 0.9420228 0.8579793 NA NA 0.05295882 0.1292483 0.9801929 0.900001 NA 0.09110354 NA FALSE NA 0 -1.595 NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:117974832 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003597780 intron_variant 0.151171 0.11977 0.01054 0.156188 0.5624196 0.153832 0.06437526 FALSE 3.42665e-05 ENSE00002345132_004 ENSE00002345132 004 2 118732372 118732541 - 54 51 65 G A 118732413 2538 129 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTTGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 117974836 117974837 117974837 downstr_intron 13 1.245283 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTTGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG mutant NA NA NA NA NA 104 352 1 1 1 0.9625853 0.9978005 0.9420228 0.8579793 NA NA 0.05797718 0.1420207 0.9801929 0.900001 NA 0.09999895 NA FALSE NA 0 -1.819 . intron_variant MODIFIER CCDC93 HGNC 25611 ENST00000376300 10/23 rs375076001 1 NA A:0 A:0.0001 CGA G,A 1.675e-05 2:117974837 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003597780 intron_variant -0.481278 0.12502 0.01126 0.156188 0.681722 0.113898 0.06437526 FALSE NA ENSE00002345132_005 ENSE00002345132 005 2 118732372 118732541 - 54 51 65 T C 118732440 2539 102 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTGTGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 117974863 117974864 117974864 exon -15 0.7254902 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTGTGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG mutant NA NA NA NA NA 336 944 1 0.9918698 0.9959349 0.9625853 0.9978005 0.9420228 0.8579793 NA NA 0.05797718 0.1338905 0.9801929 0.900001 NA 0.09593385 NA FALSE NA 1 5.644 . missense_variant MODERATE CCDC93 HGNC 25611 ENST00000376300 10/24 rs368407933 1 tolerated(0.37) benign(0.01) NA C:0.0002 C:0.0002 ATA T,C 4.176e-05 2:117974864 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003597780 missense_variant 1.275642 0.98886 0.98291 0.706298 0.9668287 0 0.06437526 FALSE 7.15292e-05 ENSE00002345132_006 ENSE00002345132 006 2 118732372 118732541 - 54 51 65 C T 118732443 2540 99 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCACTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 117974866 117974867 117974867 exon -18 0.6666667 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCACTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG mutant NA NA NA NA NA 1386 116 0.9985334 0.9830845 0.9908089 0.9625853 0.9978005 0.9420228 0.8579793 NA NA 0.05651054 0.1251052 0.9801929 0.900001 NA 0.09080787 NA FALSE NA 0.999 5.494 . missense_variant MODERATE CCDC93 HGNC 25611 ENST00000376300 10/24 rs577490713 1 deleterious(0.03) benign(0.404) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C,T 9.193e-05 2:117974867 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003597780 missense_variant 4.906849 0.99106 0.98389 0.706298 0.9987833 0 0.06437526 FALSE NA ENSE00002345132_007 ENSE00002345132 007 2 118732372 118732541 - 54 51 65 G A 118732444 2541 98 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACTGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 117974867 117974868 117974868 exon -19 0.6470588 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACTGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG mutant NA NA NA NA NA 16 1565 1 0.9995611 0.9997805 0.9625853 0.9978005 0.9420228 0.8579793 NA NA 0.05797718 0.1415818 0.9801929 0.900001 NA 0.09977949 NA FALSE NA 0.093 -0.845 . synonymous_variant LOW CCDC93 HGNC 25611 ENST00000376300 10/24 1 NA CGG G,A 1.675e-05 2:117974868 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003597780 synonymous_variant 1.650294 0.23739 0.02348 0.706298 0.5379606 0 0.06437526 FALSE NA ENSE00002345132_009 ENSE00002345132 009 2 118732372 118732541 - 54 51 65 G T 118732453 2543 89 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACAAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 117974876 117974877 117974877 exon 24 0.4705882 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACAAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG mutant NA NA NA NA NA 47 142 1 0.9974929 0.9987465 0.9625853 0.9978005 0.9420228 0.8579793 NA NA 0.05797718 0.1395136 0.9801929 0.900001 NA 0.0987454 NA FALSE NA 1 2.379 . synonymous_variant LOW CCDC93 HGNC 25611 ENST00000376300 10/24 1 NA TGG G,T 5.867e-05 2:117974877 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003597780 synonymous_variant 0.98949 0.98079 0.94513 0.706298 0.6995627 0 0.06437526 FALSE NA ENSE00002345132_010 ENSE00002345132 010 2 118732372 118732541 - 54 51 65 G T 118732463 2544 79 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTAGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 117974886 117974887 117974887 exon 14 0.2745098 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTAGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG mutant NA NA NA NA NA 19 58 1 1 1 0.9625853 0.9978005 0.9420228 0.8579793 NA NA 0.05797718 0.1420207 0.9801929 0.900001 NA 0.09999895 NA FALSE NA 1 6.934 . stop_gained HIGH CCDC93 HGNC 25611 ENST00000376300 10/24 1 NA HC CGA G,T 8.416e-06 2:117974887 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003597780 stop_gained 14.96846 0.99166 0.99007 0.706298 0.9958728 0 0.06437526 FALSE NA ENSE00002345132_012 ENSE00002345132 012 2 118732372 118732541 - 54 51 65 G A 118732473 2546 69 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGTGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 117974896 117974897 117974897 exon 4 0.07843137 GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGTGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG mutant NA NA NA NA NA 1107 1111 0.9987518 0.9954729 0.9971123 0.9625853 0.9978005 0.9420228 0.8579793 NA NA 0.05672897 0.1374936 0.9801929 0.900001 NA 0.09711128 NA FALSE NA 1 3.813 rs146540432 missense_variant MODERATE CCDC93 HGNC 25611 ENST00000376300 10/24 rs146540432 1 deleterious(0) possibly_damaging(0.453) NA A:0 A:0.0003 CGC G,A 4.224e-05 2:117974897 CCDC93 HGNC Symbol protein_coding 98655 ENSG00000125633 ENSE00003597780 missense_variant 7.269816 0.98421 0.96103 0.706298 0.9992783 0 0.06437526 FALSE 0.00012696 ENSE00002345132_BRK ENSE00002345132 BRK 2 118732372 118732541 - 54 51 65 A,G; T,T NA NA NA GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCTTCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGCCGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG 117974795 117974965 NA NA NA NA NA NA GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCTTCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGCCGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG GCATATTGCTTCTGTCTTACATGTTCAGAACCACTCACTGCTGCTCCCTTCCATTCCTCTTTCAGCAGCGTATTCAGTCGCTGATGACCAAGATGACCGCTATGGCAAATGAGGAGGTGAGTGGGAGTCGGGGAGGTGTGGGGATGGGGACTTGGCACCACCCTGCTCTG control 51 14 0 0 0 NA NA NA NA NA 0.9625853 0.9978005 0.9420228 0.8579793 -0.9625853 -0.9978005 NA NA 0.9801929 0.900001 -0.9801929 NA NA NA TRUE NA NA NA NA NA CCDC93 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CCDC93 NA NA NA ENSG00000125633 ENSE00003597780 NA NA NA NA NA NA NA 0.06437526 FALSE NA ENSE00002345215_000 ENSE00002345215 000 5 125813342 125813511 + 42 96 32 NA NA NA NA NA GCAAAGATGCCCTCGCTCGGCTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 NA NA NA NA NA NA TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC natural 15 15 0.9853702 0.9996398 0.992505 1250 406 0.9995051 0.9790358 0.9892704 0.9853702 0.9996398 0.9995051 0.9790358 0 0 0 0 0.992505 0.9892704 0 0 0 FALSE FALSE NA NA NA NA NA GRAMD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRAMD2B NA NA NA ENSG00000155324 ENSE00003631851 NA NA NA NA NA NA NA NA NA NA ENSE00002345215_BRK ENSE00002345215 BRK 5 125813342 125813511 + 42 96 32 A,G; T,T NA NA NA TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCTTATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGCCGAGTATGCAGCCGAGCGAGGGCATCTTTGC 126477649 126477819 NA NA NA NA NA NA TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCTTATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGCCGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC control NA NA NA NA NA 44 1858 0 0 0 0.9853702 0.9996398 0.9995051 0.9790358 NA NA -0.9995051 -0.9790358 0.992505 0.9892704 NA -0.9892704 NA TRUE NA NA NA NA NA NA GRAMD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRAMD2B NA NA NA ENSG00000155324 ENSE00003631851 NA NA NA NA NA NA NA NA NA NA ENSE00002345498_000 ENSE00002345498 000 21 37583810 37583979 + 41 99 30 NA NA NA NA NA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 NA NA NA NA NA NA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA natural 191 195 0.85 0.8386389 0.8443194 5128 4250 0.7682396 0.80635 0.7872948 0.85 0.8386389 0.7682396 0.80635 0 0 0 0 0.8443194 0.7872948 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOPEY2 NA NA NA ENSG00000142197 ENSE00003500617 NA NA NA NA NA NA NA 9.611649e-08 FALSE NA ENSE00002345498_002 ENSE00002345498 002 21 37583810 37583979 + 41 99 30 T C 37583825 115 16 AGAGTAGCCTGAAAACGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211526 36211527 36211527 upstr_intron -26 -0.6097561 AGAGTAGCCTGAAAACGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 549 685 0.8 0.8357385 0.8178692 0.85 0.8386389 0.7682396 0.80635 NA NA 0.03176038 0.02938843 0.8443194 0.7872948 NA 0.0305744 NA FALSE NA 0.106 1.303 NA NA NA RN7SL73P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:36211527 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 0.126852 0.11324 0.05843 0.078448 0.5444744 0.0462089 9.611649e-08 FALSE 1.2192e-05 ENSE00002345498_003 ENSE00002345498 003 21 37583810 37583979 + 41 99 30 C T 37583833 116 24 AGAGTAGCCTGAAAATGCTAGTGTCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211534 36211535 36211535 upstr_intron -18 -0.4146341 AGAGTAGCCTGAAAATGCTAGTGTCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 396 199 0.9849579 0.9745332 0.9797456 0.85 0.8386389 0.7682396 0.80635 NA NA 0.2167183 0.1681832 0.8443194 0.7872948 NA 0.1924507 NA FALSE NA 0 -0.722 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 rs546657000 1 NA GCC C,T 0.0001483 21:36211535 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 0.130557 0.14126 0.00715 0.078448 0.6582973 0.04676 9.611649e-08 FALSE 0.000130081 ENSE00002345498_004 ENSE00002345498 004 21 37583810 37583979 + 41 99 30 C T 37583834 117 25 AGAGTAGCCTGAAAATGCTAGTGCTGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211535 36211536 36211536 upstr_intron -17 -0.3902439 AGAGTAGCCTGAAAATGCTAGTGCTGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 391 1673 0.927248 0.9373323 0.9322902 0.85 0.8386389 0.7682396 0.80635 NA NA 0.1590084 0.1309822 0.8443194 0.7872948 NA 0.1449953 NA FALSE NA 0 -0.68 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 rs200225744 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0039 T:0.0001 CCG C,T 0.0004612 21:36211536 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 0.399461 0.1805 0.00469 0.078448 0.6764955 0.0462089 9.611649e-08 FALSE 0.000357712 ENSE00002345498_005 ENSE00002345498 005 21 37583810 37583979 + 41 99 30 G A 37583835 118 26 AGAGTAGCCTGAAAATGCTAGTGCCATTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211536 36211537 36211537 upstr_intron -16 -0.3658537 AGAGTAGCCTGAAAATGCTAGTGCCATTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 256 581 0.8181014 0.8002485 0.8091749 0.85 0.8386389 0.7682396 0.80635 NA NA 0.04986175 -0.00610151 0.8443194 0.7872948 NA 0.02188012 NA FALSE NA 0 -4.533 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 rs376831109 1 NA A:0 A:0.0001 CGT G,A 2.471e-05 21:36211537 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant -0.771817 0.06883 0.00256 0.078448 0.7389026 0.0462089 9.611649e-08 FALSE 2.84446e-05 ENSE00002345498_006 ENSE00002345498 006 21 37583810 37583979 + 41 99 30 T C 37583841 119 32 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGACCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211542 36211543 36211543 upstr_intron -10 -0.2195122 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGACCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 3096 1409 0.01109619 0.002639821 0.006868007 0.85 0.8386389 0.7682396 0.80635 NA NA -0.7571434 -0.8037102 0.8443194 0.7872948 NA -0.7804268 NA TRUE NA 0.002 0.519 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 rs199690723 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 C:0 C:0.0008 ATC T,C 0.0005765 21:36211543 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 0.04726 0.22455 0.0145 0.078448 0.3072713 0.0462089 9.611649e-08 FALSE 0.000601313 ENSE00002345498_007 ENSE00002345498 007 21 37583810 37583979 + 41 99 30 C T 37583842 120 33 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATTGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211543 36211544 36211544 upstr_intron -9 -0.195122 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATTGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 651 123 0.9381389 0.9398898 0.9390144 0.85 0.8386389 0.7682396 0.80635 NA NA 0.1698993 0.1335397 0.8443194 0.7872948 NA 0.1517195 NA FALSE NA 0 0.386 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 rs373519880 1 NA T:0.0002 T:0 TCG C,T 1.647e-05 21:36211544 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 0.548751 0.27397 0.02608 0.078448 0.5067792 0.642958 9.611649e-08 FALSE 2.43829e-05 ENSE00002345498_008 ENSE00002345498 008 21 37583810 37583979 + 41 99 30 G A 37583843 121 34 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCATTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211544 36211545 36211545 upstr_intron -8 -0.1707317 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCATTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 380 127 0.8411835 0.950516 0.8958497 0.85 0.8386389 0.7682396 0.80635 NA NA 0.07294384 0.144166 0.8443194 0.7872948 NA 0.1085549 NA FALSE NA 0 -2.757 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA CGT G,A 8.236e-06 21:36211545 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 splice_region_variant -0.317131 0.0894 0.00981 0.078448 0.7069529 0.0860384 9.611649e-08 FALSE 1.2185e-05 ENSE00002345498_009 ENSE00002345498 009 21 37583810 37583979 + 41 99 30 T C 37583846 122 37 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTCACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211547 36211548 36211548 upstr_intron -5 -0.09756098 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTCACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 13 324 0.03083487 0 0.01541744 0.85 0.8386389 0.7682396 0.80635 NA NA -0.7374047 -0.80635 0.8443194 0.7872948 NA -0.7718774 NA TRUE NA 0 -1.688 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA TTA T,C 6.589e-05 21:36211548 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 splice_region_variant -0.266546 0.19843 0.01732 0.078448 0.3283159 0.0744577 9.611649e-08 FALSE 4.46762e-05 ENSE00002345498_010 ENSE00002345498 010 21 37583810 37583979 + 41 99 30 G A 37583851 123 42 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGATGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211552 36211553 36211553 exon 1 0.01010101 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGATGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 398 228 0.08431313 0.004240056 0.04427659 0.85 0.8386389 0.7682396 0.80635 NA NA -0.6839265 -0.80211 0.8443194 0.7872948 NA -0.7430182 NA TRUE NA 1 1.114 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA GGT G,A 8.236e-06 21:36211553 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 missense_variant 3.411827 0.95862 0.71617 0.615465 0.9869218 0 9.611649e-08 FALSE 4.06098e-06 ENSE00002345498_014 ENSE00002345498 014 21 37583810 37583979 + 41 99 30 C G 37583870 127 61 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTGCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211571 36211572 36211572 exon 20 0.2020202 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTGCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 270 86 0.9404924 0.99911 0.9698012 0.85 0.8386389 0.7682396 0.80635 NA NA 0.1722528 0.19276 0.8443194 0.7872948 NA 0.1825064 NA FALSE NA 0.988 4.053 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA TCC C,G 8.236e-06 21:36211572 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 missense_variant 2.586365 0.96927 0.9374 0.615465 0.6473065 0 9.611649e-08 FALSE 4.06068e-06 ENSE00002345498_015 ENSE00002345498 015 21 37583810 37583979 + 41 99 30 C G 37583872 128 63 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCGTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211573 36211574 36211574 exon 22 0.2222222 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCGTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 394 357 0.8980639 0.8587141 0.878389 0.85 0.8386389 0.7682396 0.80635 NA NA 0.1298242 0.05236412 0.8443194 0.7872948 NA 0.09109418 NA FALSE NA 0.731 1.187 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA CCT C,G 8.236e-06 21:36211574 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 missense_variant -0.287121 0.67419 0.40721 0.615465 0.4599112 0 9.611649e-08 FALSE 8.1213e-06 ENSE00002345498_016 ENSE00002345498 016 21 37583810 37583979 + 41 99 30 T C 37583875 129 66 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGCTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211576 36211577 36211577 exon 25 0.2525253 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGCTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 606 4961 0.9703068 0.9046321 0.9374695 0.85 0.8386389 0.7682396 0.80635 NA NA 0.2020672 0.09828212 0.8443194 0.7872948 NA 0.1501746 NA FALSE NA 0.686 -0.168 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 COSM1197074 1 NA GTT T,C 1.647e-05 21:36211577 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 synonymous_variant -0.952608 0.42852 0.17022 0.615465 0.5276285 0 9.611649e-08 FALSE 8.1213e-06 ENSE00002345498_017 ENSE00002345498 017 21 37583810 37583979 + 41 99 30 C T 37583880 130 71 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGATTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211581 36211582 36211582 exon 30 0.3030303 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGATTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 910 12 0.805012 0.8 0.802506 0.85 0.8386389 0.7682396 0.80635 NA NA 0.03677236 -0.006350029 0.8443194 0.7872948 NA 0.01521117 NA FALSE NA 0.971 0.081 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA ACT C,T 8.237e-06 21:36211582 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 synonymous_variant 0.998051 0.95823 0.44211 0.615465 0.8251147 0 9.611649e-08 FALSE 1.62427e-05 ENSE00002345498_019 ENSE00002345498 019 21 37583810 37583979 + 41 99 30 T C 37583891 132 82 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCCTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211592 36211593 36211593 exon 41 0.4141414 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCCTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 1936 883 0.9983008 0.9974025 0.9978517 0.85 0.8386389 0.7682396 0.80635 NA NA 0.2300612 0.1910525 0.8443194 0.7872948 NA 0.2105568 NA FALSE NA 1 6.943 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA CTT T,C 8.237e-06 21:36211593 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 missense_variant 5.981059 0.98901 0.96651 0.615465 0.9990959 0 9.611649e-08 FALSE 4.06068e-06 ENSE00002345498_020 ENSE00002345498 020 21 37583810 37583979 + 41 99 30 G A 37583900 133 91 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAAAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211601 36211602 36211602 exon -50 0.5050505 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAAAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 585 801 0.001027127 0.04379207 0.0224096 0.85 0.8386389 0.7682396 0.80635 NA NA -0.7672125 -0.762558 0.8443194 0.7872948 NA -0.7648852 NA TRUE NA 1 8.536 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 COSM1566074 1 NA AGA G,A 8.237e-06 21:36211602 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 missense_variant 6.681914 0.99164 0.9815 0.615465 0.9972286 0 9.611649e-08 FALSE 4.06075e-06 ENSE00002345498_021 ENSE00002345498 021 21 37583810 37583979 + 41 99 30 T C 37583915 134 106 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAACCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211616 36211617 36211617 exon -35 0.6565657 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAACCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 276 1269 0.9197031 0.8287775 0.8742403 0.85 0.8386389 0.7682396 0.80635 NA NA 0.1514635 0.02242743 0.8443194 0.7872948 NA 0.08694544 NA FALSE NA 1 5.266 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA ATC T,C 8.236e-06 21:36211617 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 missense_variant 5.328673 0.9772 0.91707 0.615465 0.9983233 0 9.611649e-08 FALSE 1.21821e-05 ENSE00002345498_023 ENSE00002345498 023 21 37583810 37583979 + 41 99 30 C T 37583928 136 119 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTTTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211629 36211630 36211630 exon -22 0.7878788 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTTTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 559 1480 0.03679684 0.02432064 0.03055874 0.85 0.8386389 0.7682396 0.80635 NA NA -0.7314428 -0.7820294 0.8443194 0.7872948 NA -0.7567361 NA TRUE NA 1 0.84 rs139632512 downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA TCT C,T 5.765e-05 21:36211630 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 synonymous_variant 1.87346 0.93286 0.68238 0.706298 0.8252226 0 9.611649e-08 FALSE 6.09127e-05 ENSE00002345498_024 ENSE00002345498 024 21 37583810 37583979 + 41 99 30 C T 37583933 137 124 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCTATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211634 36211635 36211635 exon -17 0.8383838 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCTATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 691 473 0.07939389 0 0.03969695 0.85 0.8386389 0.7682396 0.80635 NA NA -0.6888457 -0.80635 0.8443194 0.7872948 NA -0.7475979 NA TRUE NA 1 6.755 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA CCA C,T 8.236e-06 21:36211635 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 missense_variant 7.297596 0.97412 0.94088 0.706298 0.998447 0 9.611649e-08 FALSE 4.06118e-06 ENSE00002345498_026 ENSE00002345498 026 21 37583810 37583979 + 41 99 30 T C 37583959 139 150 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATCTGTACTCTTCTGGTAAGTCA 36211511 36211681 36211660 36211661 36211661 downstr_intron 10 1.344828 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATCTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 855 1589 0.8145952 0.7989006 0.8067479 0.85 0.8386389 0.7682396 0.80635 NA NA 0.04635559 -0.007449476 0.8443194 0.7872948 NA 0.01945306 NA FALSE NA 0 -1.01 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 rs200639129 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTT T,C 8.236e-06 21:36211661 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 2.075462 0.26257 0.03031 0.065574 0.7231837 0.24031 9.611649e-08 FALSE 4.06266e-06 ENSE00002345498_027 ENSE00002345498 027 21 37583810 37583979 + 41 99 30 G C 37583961 140 152 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTCTACTCTTCTGGTAAGTCA 36211511 36211681 36211662 36211663 36211663 downstr_intron 12 1.413793 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTCTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 111 282 0.8944195 0.9200213 0.9072204 0.85 0.8386389 0.7682396 0.80635 NA NA 0.1261799 0.1136713 0.8443194 0.7872948 NA 0.1199256 NA FALSE NA 0 -0.161 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA TGT G,C 8.236e-06 21:36211663 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 1.760767 0.4211 0.09327 0.065574 0.779276 0.24031 9.611649e-08 FALSE 4.06336e-06 ENSE00002345498_028 ENSE00002345498 028 21 37583810 37583979 + 41 99 30 C T 37583964 141 155 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTATTCTTCTGGTAAGTCA 36211511 36211681 36211665 36211666 36211666 downstr_intron 15 1.517241 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTATTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 974 371 0.8209533 0.8087811 0.8148672 0.85 0.8386389 0.7682396 0.80635 NA NA 0.05271368 0.002431045 0.8443194 0.7872948 NA 0.02757236 NA FALSE NA 0 -0.662 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA ACT C,T 8.236e-06 21:36211666 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 2.117694 0.29365 0.00842 0.065574 0.8933092 0.24031 9.611649e-08 FALSE 1.21912e-05 ENSE00002345498_029 ENSE00002345498 029 21 37583810 37583979 + 41 99 30 C G 37583969 142 160 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTGTGGTAAGTCA 36211511 36211681 36211670 36211671 36211671 downstr_intron 20 1.689655 AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTGTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA mutant NA NA NA NA NA 640 183 0.0004688839 0.04743958 0.02395423 0.85 0.8386389 0.7682396 0.80635 NA NA -0.7677707 -0.7589104 0.8443194 0.7872948 NA -0.7633406 NA TRUE NA 0 -0.007 . downstream_gene_variant MODIFIER RN7SL73P HGNC 46089 ENST00000585239 1 NA TCT C,G 8.236e-06 21:36211671 DOPEY2 HGNC Symbol protein_coding 137492 ENSG00000142197 ENSE00003500617 intron_variant 2.297253 0.36728 0.13106 0.065574 0.8297257 0.24031 9.611649e-08 FALSE 4.06488e-06 ENSE00002345498_BRK ENSE00002345498 BRK 21 37583810 37583979 + 41 99 30 A,G; T,T NA NA NA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACTTGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGCCAAGTAATTTGTACTCTTCTGGTAAGTCA 36211511 36211681 NA NA NA NA NA NA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACTTGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGCCAAGTAATTTGTACTCTTCTGGTAAGTCA AGAGTAGCCTGAAAATGCTAGTGCCGTTTGATCGTTTACAGGTGAAGTCTTTGCGTGCCTCCCTGTTGGACTCAAATGTTCTTGTGCAAAGAAATAATCTGGAAATCGTTCTGTTTTTCTTCCCATTTTATACCTGTCTGGTAAGTAATTTGTACTCTTCTGGTAAGTCA control 14 12 0 0 0 476 1327 0 0.009814346 0.004907173 0.85 0.8386389 0.7682396 0.80635 -0.85 -0.8386389 -0.7682396 -0.7965357 0.8443194 0.7872948 -0.8443194 -0.7823877 0.06193179 TRUE TRUE NA NA NA NA NA RN7SL73P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOPEY2 NA NA NA ENSG00000142197 ENSE00003500617 NA NA NA NA NA NA NA 9.611649e-08 FALSE NA ENSE00002345882_000 ENSE00002345882 000 6 37342351 37342520 + 45 90 35 NA NA NA NA NA AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAATGCTGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 NA NA NA NA NA NA TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT natural 94 90 0.9944448 0.9980868 0.9962658 4472 1752 0.9869292 0.9909553 0.9889422 0.9944448 0.9980868 0.9869292 0.9909553 0 0 0 0 0.9962658 0.9889422 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF8 NA NA NA ENSG00000112130 ENSE00003636217 NA NA NA NA NA NA NA 0.9958929 TRUE NA ENSE00002345882_002 ENSE00002345882 002 6 37342351 37342520 + 45 90 35 G C 37342369 1180 19 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAATGCTGCAAAAACATAGCAGATACATACTGAGGATGAACTACAATGCA 37374574 37374744 37374592 37374593 37374593 upstr_intron -27 -0.5777778 TGCATTGTAGTTCATCCTCAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 79 107 1 0.9843783 0.9921891 0.9944448 0.9980868 0.9869292 0.9909553 NA NA 0.01307084 -0.006577009 0.9962658 0.9889422 NA 0.003246914 NA FALSE NA 0.994 1.939 NA NA NA RNF8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:37374593 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 intron_variant 0.593577 0.2538 0.76642 0.156188 0.6634792 0.0666469 0.9958929 TRUE 4.09766e-06 ENSE00002345882_004 ENSE00002345882 004 6 37342351 37342520 + 45 90 35 A G 37342377 1182 27 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAATGCTGCAAAAACATAGCAGACACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374600 37374601 37374601 upstr_intron -19 -0.4 TGCATTGTAGTTCATCCTGAGTATGTGTCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 361 574 1 1 1 0.9944448 0.9980868 0.9869292 0.9909553 NA NA 0.01307084 0.009044736 0.9962658 0.9889422 NA 0.01105779 NA FALSE NA 0.002 -0.986 . downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 rs566340950 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAT A,G 1.647e-05 6:37374601 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 intron_variant 0.284655 0.1857 0.02427 0.156188 0.6350944 0.0666469 0.9958929 TRUE 2.03844e-05 ENSE00002345882_005 ENSE00002345882 005 6 37342351 37342520 + 45 90 35 C T 37342382 1183 32 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAATGCTGCAAAAACATAACAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374605 37374606 37374606 upstr_intron -14 -0.2888889 TGCATTGTAGTTCATCCTGAGTATGTATCTGTTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 210 161 0.9988182 1 0.9994091 0.9944448 0.9980868 0.9869292 0.9909553 NA NA 0.01188906 0.009044736 0.9962658 0.9889422 NA 0.0104669 NA FALSE NA 0 -0.561 . downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 rs200155324 1 NA GCT C,T 8.236e-05 6:37374606 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 intron_variant 1.47483 0.35129 0.03228 0.295142 0.7559239 0.231583 0.9958929 TRUE 7.33251e-05 ENSE00002345882_009 ENSE00002345882 009 6 37342351 37342520 + 45 90 35 A G 37342397 1187 47 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAACGCTGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374620 37374621 37374621 exon 2 0.02222222 TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCGTTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 748 113 0.9989582 1 0.9994791 0.9944448 0.9980868 0.9869292 0.9909553 NA NA 0.01202903 0.009044736 0.9962658 0.9889422 NA 0.01053688 NA FALSE NA 1 8.341 . downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 1 NA CAT A,G 1.647e-05 6:37374621 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 missense_variant 4.810762 0.9868 0.99673 0.732398 0.9969001 0 0.9958929 TRUE 8.1324e-06 ENSE00002345882_010 ENSE00002345882 010 6 37342351 37342520 + 45 90 35 T C 37342398 1188 48 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAGTGCTGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374621 37374622 37374622 exon 3 0.03333333 TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCACTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 208 80 0.8052618 1 0.9026309 0.9944448 0.9980868 0.9869292 0.9909553 NA NA -0.1816674 0.009044736 0.9962658 0.9889422 NA -0.08631131 NA FALSE NA 0.996 0.796 rs187615839 downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 rs187615839 1 C:0.0008 C:0 C:0.0058 NA C:0 C:0 C:0 ATT T,C 9.06e-05 6:37374622 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 splice_region_variant 0.263308 0.9074 0.83909 0.732398 0.5210353 0 0.9958929 TRUE 0.000105708 ENSE00002345882_011 ENSE00002345882 011 6 37342351 37342520 + 45 90 35 A G 37342408 1189 58 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCACTAGAGCCCAATGCTGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374631 37374632 37374632 exon 13 0.1444444 TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAGTGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 1416 26 0.9956245 0.9627986 0.9792116 0.9944448 0.9980868 0.9869292 0.9909553 NA NA 0.008695314 -0.02815662 0.9962658 0.9889422 NA -0.009730653 NA FALSE NA 1 6.585 . downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 1 NA AAT A,G 7.413e-05 6:37374632 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 missense_variant 2.04404 0.98704 0.99221 0.732398 0.9583001 0 0.9958929 TRUE 8.94055e-05 ENSE00002345882_012 ENSE00002345882 012 6 37342351 37342520 + 45 90 35 C T 37342423 1190 73 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCAATTTAGCTCTTCCATTAGAGCCCAATGCTGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374646 37374647 37374647 exon 28 0.3111111 TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATTGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 316 103 0.7987169 0.915501 0.857109 0.9944448 0.9980868 0.9869292 0.9909553 NA NA -0.1882122 -0.07545427 0.9962658 0.9889422 NA -0.1318333 NA FALSE NA 1 4.234 . downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 COSM3626350&COSM3626351 1 NA TCG C,T 8.236e-06 6:37374647 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 missense_variant 4.909143 0.98971 0.98807 0.732398 0.9950148 0 0.9958929 TRUE NA ENSE00002345882_016 ENSE00002345882 016 6 37342351 37342520 + 45 90 35 G T 37342435 1194 85 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTACTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAATGCTGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374658 37374659 37374659 exon 40 0.4444444 TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGTACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 93 180 0.9792768 0.95 0.9646384 0.9944448 0.9980868 0.9869292 0.9909553 NA NA -0.007652345 -0.04095526 0.9962658 0.9889422 NA -0.0243038 NA FALSE NA 1 5.093 . downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 1 NA GGA G,T 8.236e-06 6:37374659 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 missense_variant 6.026794 0.987 0.98497 0.732398 0.9950846 0 0.9958929 TRUE 4.06312e-06 ENSE00002345882_017 ENSE00002345882 017 6 37342351 37342520 + 45 90 35 C T 37342481 1195 131 AACCAAATTCTAAACTTCCATCTTCTTTCCAGTACCTTGATCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAATGCTGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374704 37374705 37374705 exon -5 0.9555556 TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGATCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 60 878 0.8900941 0.9744629 0.9322785 0.9944448 0.9980868 0.9869292 0.9909553 NA NA -0.09683503 -0.01649241 0.9962658 0.9889422 NA -0.05666372 NA FALSE NA 1 7.19 . downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 1 NA ACC C,T 8.236e-06 6:37374705 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 missense_variant 7.112554 0.99393 0.99334 0.732398 0.9989645 0 0.9958929 TRUE 4.06616e-06 ENSE00002345882_018 ENSE00002345882 018 6 37342351 37342520 + 45 90 35 G A 37342491 1196 141 AACCAAATTCTAAACTTCCATCTTCTTTCTAGTACCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAATGCTGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 37374714 37374715 37374715 downstr_intron 6 1.176471 TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTAGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT mutant NA NA NA NA NA 1728 157 0.8036522 0.8025269 0.8030895 0.9944448 0.9980868 0.9869292 0.9909553 NA NA -0.183277 -0.1884283 0.9962658 0.9889422 NA -0.1858527 NA FALSE NA 0.53 0.115 . downstream_gene_variant MODIFIER RNF8 HGNC 10071 ENST00000479516 1 NA TGG G,A 8.237e-06 6:37374715 RNF8 HGNC Symbol protein_coding 40766 ENSG00000112130 ENSE00003636217 splice_region_variant 1.458206 0.3236 0.38958 0.099367 0.6960914 0.492066 0.9958929 TRUE 4.06987e-06 ENSE00002345882_BRK ENSE00002345882 BRK 6 37342351 37342520 + 45 90 35 A,G; T,T NA NA NA AACCAAATTCTAAACTTCCATCTTCTTTCCAGTGGCTTGGTCTGCTCTAATTCTTTGTTCTTGGCTTGAATGATTGCTTCAAAGTCCTTCTTGCTGCGATTTAGCTCTTCCATTAGAGCCCAATGAAGCAAAAACATAGCAGATACATACTCAGGATGAACTACAATGCA 37374574 37374744 NA NA NA NA NA NA TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCTTCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGCCACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT TGCATTGTAGTTCATCCTGAGTATGTATCTGCTATGTTTTTGCAGCATTGGGCTCTAATGGAAGAGCTAAATCGCAGCAAGAAGGACTTTGAAGCAATCATTCAAGCCAAGAACAAAGAATTAGAGCAGACCAAGGTACTGGAAAGAAGATGGAAGTTTAGAATTTGGTT control 157 102 0 0 0 NA NA NA NA NA 0.9944448 0.9980868 0.9869292 0.9909553 -0.9944448 -0.9980868 NA NA 0.9962658 0.9889422 -0.9962658 NA NA NA TRUE NA NA NA NA NA RNF8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF8 NA NA NA ENSG00000112130 ENSE00003636217 NA NA NA NA NA NA NA 0.9958929 TRUE NA ENSE00002345936_000 ENSE00002345936 000 17 2341368 2341537 - 35 90 45 NA NA NA NA NA TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 NA NA NA NA NA NA TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC natural 35 32 0.9909552 0.98146 0.9862076 3128 3969 0.985553 0.7880243 0.8867886 0.9909552 0.98146 0.985553 0.7880243 0 0 0 0 0.9862076 0.8867886 0 0 0 FALSE FALSE NA NA NA NA NA METTL16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL16 NA NA NA ENSG00000127804 ENSE00003601645 NA NA NA NA NA NA NA 0.9972894 TRUE NA ENSE00002345936_001 ENSE00002345936 001 17 2341368 2341537 - 35 90 45 C T 2341382 202 156 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCACTTCACCACCTGCC 2438073 2438243 2438087 2438088 2438088 downstr_intron 21 1.617647 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCACTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 1528 858 0.9987545 0.9966003 0.9976774 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01320149 0.208576 0.9862076 0.8867886 NA 0.1108887 NA FALSE NA 0 1.527 . intron_variant MODIFIER METTL16 HGNC 28484 ENST00000263092 8/9 rs377231356 1 NA T:0 T:0.0001 GCG C,T 2.481e-05 17:2438088 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 intron_variant 0.289254 0.22217 0.18968 0.295142 0.4659345 0.0532412 0.9972894 TRUE 2.03168e-05 ENSE00002345936_002 ENSE00002345936 002 17 2341368 2341537 - 35 90 45 G A 2341383 203 155 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCTGCTTCACCACCTGCC 2438073 2438243 2438088 2438089 2438089 downstr_intron 20 1.588235 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCTGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 840 489 0.9932578 0.9964256 0.9948417 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.007704821 0.2084013 0.9862076 0.8867886 NA 0.108053 NA FALSE NA 0 -0.387 rs181737954 intron_variant MODIFIER METTL16 HGNC 28484 ENST00000263092 8/9 rs181737954 1 A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 CGG G,A 2.481e-05 17:2438089 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 intron_variant -0.386003 0.0818 0.00638 0.295142 0.3905016 0.0532412 0.9972894 TRUE 2.43782e-05 ENSE00002345936_003 ENSE00002345936 003 17 2341368 2341537 - 35 90 45 G T 2341391 204 147 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGAACTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438096 2438097 2438097 downstr_intron 12 1.352941 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGAACTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 815 210 1 0.9854149 0.9927075 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01444703 0.1973906 0.9862076 0.8867886 NA 0.1059188 NA FALSE NA 0.008 0.386 . intron_variant MODIFIER METTL16 HGNC 28484 ENST00000263092 8/9 1 NA GGT G,T 8.269e-06 17:2438097 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 intron_variant 0.787093 0.2239 0.10293 0.295142 0.6868757 0.0612857 0.9972894 TRUE 8.12348e-06 ENSE00002345936_004 ENSE00002345936 004 17 2341368 2341537 - 35 90 45 G A 2341395 205 143 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTATAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438100 2438101 2438101 downstr_intron 8 1.235294 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTATAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 174 1080 0.9973689 0.9986854 0.9980272 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01181596 0.2106611 0.9862076 0.8867886 NA 0.1112385 NA FALSE NA 0.03 0.02 . splice_region_variant&intron_variant LOW METTL16 HGNC 28484 ENST00000263092 8/9 1 NA TGT G,A 8.269e-06 17:2438101 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 splice_region_variant 1.311001 0.57905 0.04471 0.295142 0.6324681 0.194205 0.9972894 TRUE 4.06174e-06 ENSE00002345936_005 ENSE00002345936 005 17 2341368 2341537 - 35 90 45 C T 2341414 206 124 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATATCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438119 2438120 2438120 exon -12 0.8777778 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATATCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 843 153 1 1 1 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01444703 0.2119757 0.9862076 0.8867886 NA 0.1132114 NA FALSE NA 1 4.807 . missense_variant MODERATE METTL16 HGNC 28484 ENST00000263092 8/10 1 tolerated(0.18) benign(0.018) NA ACA C,T 8.268e-06 17:2438120 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 missense_variant 3.166871 0.98341 0.92505 0.706548 0.9797608 0 0.9972894 TRUE 4.06157e-06 ENSE00002345936_006 ENSE00002345936 006 17 2341368 2341537 - 35 90 45 A G 2341421 207 117 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTACGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438126 2438127 2438127 exon -19 0.8 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTACGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 799 1182 0.9943908 1 0.9971954 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.008837841 0.2119757 0.9862076 0.8867886 NA 0.1104068 NA FALSE NA 1 2.685 . synonymous_variant LOW METTL16 HGNC 28484 ENST00000263092 8/10 1 NA CAT A,G 8.268e-06 17:2438127 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 synonymous_variant 0.171953 0.96957 0.87423 0.706548 0.5008078 0 0.9972894 TRUE 1.21835e-05 ENSE00002345936_007 ENSE00002345936 007 17 2341368 2341537 - 35 90 45 T C 2341469 208 69 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAGTTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438174 2438175 2438175 exon 24 0.2666667 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAGTTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 121 377 1 0.9874893 0.9937447 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01444703 0.199465 0.9862076 0.8867886 NA 0.106956 NA FALSE NA 1 1.372 . synonymous_variant LOW METTL16 HGNC 28484 ENST00000263092 8/10 1 NA ATT T,C 8.27e-06 17:2438175 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 synonymous_variant 0.772339 0.96078 0.57691 0.706548 0.6631076 0 0.9972894 TRUE 4.06098e-06 ENSE00002345936_008 ENSE00002345936 008 17 2341368 2341537 - 35 90 45 C T 2341478 209 60 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACATACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438183 2438184 2438184 exon 15 0.1666667 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACATACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 1052 95 0.9981468 1 0.9990734 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01259379 0.2119757 0.9862076 0.8867886 NA 0.1122847 NA FALSE NA 0.999 0.462 . synonymous_variant LOW METTL16 HGNC 28484 ENST00000263092 8/10 COSM1381571&COSM1381570 1 NA ACG C,T 4.135e-05 17:2438184 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 synonymous_variant 2.419224 0.96813 0.62244 0.706548 0.7107634 0 0.9972894 TRUE 3.65491e-05 ENSE00002345936_009 ENSE00002345936 009 17 2341368 2341537 - 35 90 45 C G 2341500 210 38 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTCGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438205 2438206 2438206 upstr_intron -8 -0.1555556 TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTCGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 442 1344 1 0.9911908 0.9955954 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01444703 0.2031664 0.9862076 0.8867886 NA 0.1088067 NA FALSE NA 0 -0.221 . splice_region_variant&intron_variant LOW METTL16 HGNC 28484 ENST00000263092 7/9 1 NA CCA C,G 8.271e-06 17:2438206 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 splice_region_variant 0.931869 0.93016 0.50954 0.062308 0.5722835 0.53546 0.9972894 TRUE NA ENSE00002345936_011 ENSE00002345936 011 17 2341368 2341537 - 35 90 45 A G 2341510 212 28 TAGAATGATTGCAGTTTGATGAGATGCCGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438215 2438216 2438216 upstr_intron -18 -0.3777778 TAGAATGATTGCAGTTTGATGAGATGCCGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 643 1775 1 0.9146111 0.9573055 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01444703 0.1265868 0.9862076 0.8867886 NA 0.0705169 NA FALSE NA 0.001 1.342 . intron_variant MODIFIER METTL16 HGNC 28484 ENST00000263092 7/9 1 NA CAG A,G 4.136e-05 17:2438216 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 intron_variant -0.162216 0.21016 0.02679 0.062308 0.4884922 0.135624 0.9972894 TRUE 2.03062e-05 ENSE00002345936_012 ENSE00002345936 012 17 2341368 2341537 - 35 90 45 C T 2341517 213 21 TAGAATGATTGCAGTTTGATAAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 2438222 2438223 2438223 upstr_intron -25 -0.5333333 TAGAATGATTGCAGTTTGATAAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC mutant NA NA NA NA NA 182 1141 1 0.9998614 0.9999307 0.9909552 0.98146 0.985553 0.7880243 NA NA 0.01444703 0.211837 0.9862076 0.8867886 NA 0.113142 NA FALSE NA 0.706 0.065 rs186539463 intron_variant MODIFIER METTL16 HGNC 28484 ENST00000263092 7/9 rs186539463 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0 T:0.0001 TCA C,T 4.963e-05 17:2438223 METTL16 HGNC Symbol protein_coding 106329 ENSG00000127804 ENSE00003601645 intron_variant 0.632316 0.9586 0.39226 0.062308 0.653577 0.205576 0.9972894 TRUE 4.87389e-05 ENSE00002345936_BRK ENSE00002345936 BRK 17 2341368 2341537 - 35 90 45 A,G; T,T NA NA NA TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCTTGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCACCAAGTACAGACCTTGCTCCGCTTCACCACCTGCC 2438073 2438243 NA NA NA NA NA NA TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCTTGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCACCAAGTACAGACCTTGCTCCGCTTCACCACCTGCC TAGAATGATTGCAGTTTGATGAGATGCTGTCTTTGTTGGTTTCAGGTTCCCAAAGTAACGTACACTGAATTCTGTCAAGGTCGGACAATGAGATGGGCCTTAGCTTGGAGTTTTTATGATGATGTCACAGTACCAGTAAGTACAGACCTTGCTCCGCTTCACCACCTGCC control NA NA NA NA NA 628 1188 0.008255127 0.0005387577 0.004396942 0.9909552 0.98146 0.985553 0.7880243 NA NA -0.9772978 -0.7874856 0.9862076 0.8867886 NA -0.8823917 NA TRUE NA NA NA NA NA NA METTL16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA METTL16 NA NA NA ENSG00000127804 ENSE00003601645 NA NA NA NA NA NA NA 0.9972894 TRUE NA ENSE00002346047_000 ENSE00002346047 000 11 60978768 60978937 + 41 99 30 NA NA NA NA NA ACAGAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGG 61211295 61211465 NA NA NA NA NA NA ACAGAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGG ACAGAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGG natural 46 18 0.9998201 0.9938383 0.9968292 3691 3294 0.9951974 0.9245063 0.9598519 0.9998201 0.9938383 0.9951974 0.9245063 0 0 0 0 0.9968292 0.9598519 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003493454 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00002346727_000 ENSE00002346727 000 2 217068992 217069161 + 53 75 42 NA NA NA NA NA TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT 216204268 216204438 NA NA NA NA NA NA TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT natural NA NA NA NA NA 689 423 0.9991006 1 0.9995503 NA NA 0.9991006 1 NA NA 0 0 NA 0.9995503 NA 0 NA FALSE NA NA NA NA NA NA XRCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XRCC5 NA NA NA ENSG00000079246 ENSE00003675322 NA NA NA NA NA NA NA 0.9999918 TRUE NA ENSE00002346727_003 ENSE00002346727 003 2 217068992 217069161 + 53 75 42 T C 217069010 4501 19 TTCAAAGGGGCAAAAATACCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT 216204268 216204438 216204286 216204287 216204287 upstr_intron -35 -0.6415094 TTCAAAGGGGCAAAAATACCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT mutant NA NA NA NA NA 196 23 0.9928872 1 0.9964436 NA NA 0.9991006 1 NA NA -0.006213382 0 NA 0.9995503 NA -0.003106691 NA FALSE NA 0 -0.942 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000485763 1/2 1 NA ATC T,C 1.647e-05 2:216204287 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003675322 non_coding_transcript_exon_variant -0.039921 0.18421 0.06257 0.139865 0.4676441 0.157936 0.9999918 TRUE 2.03331e-05 ENSE00002346727_006 ENSE00002346727 006 2 217068992 217069161 + 53 75 42 G A 217069018 4504 27 TTCAAAGGGGCAAAAATATCATTTTGATATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT 216204268 216204438 216204294 216204295 216204295 upstr_intron -27 -0.490566 TTCAAAGGGGCAAAAATATCATTTTGATATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT mutant NA NA NA NA NA 50 34 1 1 1 NA NA 0.9991006 1 NA NA 0.0008993988 0 NA 0.9995503 NA 0.0004496994 NA FALSE NA 0.002 -0.644 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000485763 1/2 1 NA GGT G,A 8.237e-05 2:216204295 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003675322 non_coding_transcript_exon_variant 0.344174 0.26689 0.06959 0.139865 0.5635954 0.157936 0.9999918 TRUE 6.09895e-05 ENSE00002346727_016 ENSE00002346727 016 2 217068992 217069161 + 53 75 42 A C 217069076 4514 85 TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGCCACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT 216204268 216204438 216204352 216204353 216204353 exon 32 0.4266667 TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGCCACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT mutant NA NA NA NA NA 199 35 1 1 1 NA NA 0.9991006 1 NA NA 0.0008993988 0 NA 0.9995503 NA 0.0004496994 NA FALSE NA 0.005 0.157 NA NA NA XRCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:216204353 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003675322 missense_variant -0.220384 0.21499 0.07131 0.722319 0.7688333 0 0.9999918 TRUE 6.09469e-05 ENSE00002346727_018 ENSE00002346727 018 2 217068992 217069161 + 53 75 42 A C 217069078 4516 87 TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACCCAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT 216204268 216204438 216204354 216204355 216204355 exon 34 0.4533333 TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACCCAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT mutant NA NA NA NA NA 1195 136 0.9994823 1 0.9997411 NA NA 0.9991006 1 NA NA 0.000381681 0 NA 0.9995503 NA 0.0001908405 NA FALSE NA 0 -1.892 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000485763 1/2 1 NA CAC A,C 8.236e-06 2:216204355 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003675322 missense_variant -1.367162 0.12756 0.02577 0.722319 0.4539186 0 0.9999918 TRUE 8.12632e-06 ENSE00002346727_021 ENSE00002346727 021 2 217068992 217069161 + 53 75 42 G C 217069103 4519 112 TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGCTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT 216204268 216204438 216204379 216204380 216204380 exon -17 0.7866667 TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGCTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT mutant NA NA NA NA NA 450 131 1 0.95 0.975 NA NA 0.9991006 1 NA NA 0.0008993988 -0.05 NA 0.9995503 NA -0.0245503 NA FALSE NA 1 5.039 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000485763 1/2 1 NA GGT G,C 8.236e-06 2:216204380 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003675322 missense_variant 4.586637 0.98608 0.96786 0.722319 0.9974294 0 0.9999918 TRUE 4.06263e-06 ENSE00002346727_030 ENSE00002346727 030 2 217068992 217069161 + 53 75 42 T G 217069148 4528 157 TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTGCTATGATTGAAGT 216204268 216204438 216204424 216204425 216204425 downstr_intron 29 1.707317 TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTGCTATGATTGAAGT TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT mutant NA NA NA NA NA 142 107 1 1 1 NA NA 0.9991006 1 NA NA 0.0008993988 0 NA 0.9995503 NA 0.0004496994 NA FALSE NA 0.002 0.726 rs41296827 intron_variant&non_coding_transcript_variant MODIFIER XRCC5 HGNC 12833 ENST00000485763 1/1 rs41296827 1 G:0.0178 G:0.0628 G:0.0086 NA G:0 G:0 G:0 G:0.0443 G:0.0006 TTC T,G 0.004473 2:216204425 XRCC5 HGNC Symbol protein_coding 98839 ENSG00000079246 ENSE00003675322 intron_variant 2.170562 0.47955 0.21947 0.062308 0.9257006 0.155388 0.9999918 TRUE 0.00362337 ENSE00002346727_BRK ENSE00002346727 BRK 2 217068992 217069161 + 53 75 42 A,G; T,T NA NA NA TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACTTTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTACCAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT 216204268 216204438 NA NA NA NA NA NA TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACTTTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTACCAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT TTCAAAGGGGCAAAAATATCATTTTGGTATGATAACTGACTTTCTATTTACAGTTTCTGGCCCCCAAAGACAAACCAAGTGGAGACACAGCAGCTGTATTTGAAGAAGGTGGTGATGTGGACGATTTAGTAAGTACTTTTAATATGCACCTGGTGTTCTATGATTGAAGT control NA NA NA NA NA 264 78 0 0.004722115 0.002361057 NA NA 0.9991006 1 NA NA -0.9991006 -0.9952779 NA 0.9995503 NA -0.9971892 NA TRUE NA NA NA NA NA NA XRCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA XRCC5 NA NA NA ENSG00000079246 ENSE00003675322 NA NA NA NA NA NA NA 0.9999918 TRUE NA ENSE00002346784_000 ENSE00002346784 000 17 80417818 80417987 + 50 81 39 NA NA NA NA NA TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 NA NA NA NA NA NA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA natural 43 44 0.9963299 0.9961093 0.9962196 1991 2950 0.9971069 0.8535176 0.9253123 0.9963299 0.9961093 0.9971069 0.8535176 0 0 0 0 0.9962196 0.9253123 0 0 0 FALSE FALSE NA NA NA NA NA NARF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NARF NA NA NA ENSG00000141562 ENSE00003655622 NA NA NA NA NA NA NA 0.001224919 FALSE NA ENSE00002346784_001 ENSE00002346784 001 17 80417818 80417987 + 50 81 39 A G 80417846 3629 29 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATCATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82459969 82459970 82459970 upstr_intron -22 -0.42 AAGGGAGACGAAGTAAAAGTTCATTGATGATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 145 262 1 0.9991035 0.9995518 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.002893051 0.1455859 0.9962196 0.9253123 NA 0.07423946 NA FALSE NA 0 -0.703 . intron_variant MODIFIER NARF HGNC 29916 ENST00000457415 1/11 1 NA TAA A,G 8.236e-06 17:82459970 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 intron_variant 0.433671 0.07579 0.0166 0.12324 0.7074306 0.0669573 0.001224919 FALSE NA ENSE00002346784_002 ENSE00002346784 002 17 80417818 80417987 + 50 81 39 G A 80417849 3630 32 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAATATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82459972 82459973 82459973 upstr_intron -19 -0.36 AAGGGAGACGAAGTAAAAGTTCATTGATAATATTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 56 154 1 0.9138875 0.9569437 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.002893051 0.06036987 0.9962196 0.9253123 NA 0.03163146 NA FALSE NA 0 0.477 . intron_variant MODIFIER NARF HGNC 29916 ENST00000457415 1/11 1 NA TGT G,A 8.236e-06 17:82459973 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 intron_variant 1.379904 0.11665 0.02556 0.12324 0.8506355 0.0669573 0.001224919 FALSE 4.0785e-06 ENSE00002346784_003 ENSE00002346784 003 17 80417818 80417987 + 50 81 39 C G 80417853 3631 36 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAACGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82459976 82459977 82459977 upstr_intron -15 -0.28 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCGTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 105 508 1 1 1 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.002893051 0.1464824 0.9962196 0.9253123 NA 0.07468771 NA FALSE NA 0 -0.015 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:82459977 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 intron_variant 1.199673 0.14455 0.0334 0.12324 0.7282724 0.0669573 0.001224919 FALSE 4.07943e-06 ENSE00002346784_004 ENSE00002346784 004 17 80417818 80417987 + 50 81 39 C T 80417853 3632 36 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAAGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82459976 82459977 82459977 upstr_intron -15 -0.28 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCTTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 72 310 0.9581927 1 0.9790963 0.9963299 0.9961093 0.9971069 0.8535176 NA NA -0.03891426 0.1464824 0.9962196 0.9253123 NA 0.05378405 NA FALSE NA 0 -0.015 NA NA NA NARF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NARF NA NA NA ENSG00000141562 ENSE00003655622 intron_variant 1.280287 0.11831 0.01351 0.12324 0.8483842 0.0669573 0.001224919 FALSE 4.07943e-06 ENSE00002346784_006 ENSE00002346784 006 17 80417818 80417987 + 50 81 39 G A 80417868 3634 51 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTTCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82459991 82459992 82459992 exon 1 0.01234568 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGAAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 21 185 1 1 1 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.002893051 0.1464824 0.9962196 0.9253123 NA 0.07468771 NA FALSE NA 1 5.23 rs138884508 missense_variant&splice_region_variant MODERATE NARF HGNC 29916 ENST00000457415 2/12 rs138884508 1 deleterious(0) possibly_damaging(0.831) NA A:0.0007 A:0 GGA G,A 8.236e-06 17:82459992 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 6.365072 0.97525 0.97177 0.732398 0.9867089 0 0.001224919 FALSE 1.22143e-05 ENSE00002346784_007 ENSE00002346784 007 17 80417818 80417987 + 50 81 39 T C 80417871 3635 54 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACGTTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82459994 82459995 82459995 exon 4 0.04938272 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAACGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 120 41 0.9996565 0.9528629 0.9762597 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.002549601 0.09934523 0.9962196 0.9253123 NA 0.05094742 NA FALSE NA 1 4.274 rs142068937 missense_variant MODERATE NARF HGNC 29916 ENST00000457415 2/12 rs142068937 1 deleterious(0) probably_damaging(0.959) NA C:0.0002 C:0 ATG T,C 8.236e-06 17:82459995 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 5.632852 0.97091 0.96293 0.732398 0.9053557 0 0.001224919 FALSE 4.06928e-06 ENSE00002346784_008 ENSE00002346784 008 17 80417818 80417987 + 50 81 39 A C 80417881 3636 64 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTGTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460004 82460005 82460005 exon 14 0.1728395 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGACAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 10 549 0.95 0.9943998 0.9721999 0.9963299 0.9961093 0.9971069 0.8535176 NA NA -0.04710695 0.1408822 0.9962196 0.9253123 NA 0.04688761 NA FALSE NA 1 4.886 . missense_variant MODERATE NARF HGNC 29916 ENST00000457415 2/12 1 tolerated(0.13) probably_damaging(0.959) NA AAA A,C 8.236e-06 17:82460005 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 4.404328 0.97392 0.97457 0.732398 0.9708894 0 0.001224919 FALSE 4.06669e-06 ENSE00002346784_010 ENSE00002346784 010 17 80417818 80417987 + 50 81 39 A G 80417900 3638 83 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCCTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460023 82460024 82460024 exon 33 0.4074074 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAGGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 57 199 0.9521156 1 0.9760578 0.9963299 0.9961093 0.9971069 0.8535176 NA NA -0.04499138 0.1464824 0.9962196 0.9253123 NA 0.05074549 NA FALSE NA 0.001 -0.237 rs148570791 synonymous_variant LOW NARF HGNC 29916 ENST00000457415 2/12 rs148570791 1 G:0.0004 G:0 G:0 NA G:0 G:0.001 G:0.001 G:0 G:0.0005 AAG A,G 0.0002224 17:82460024 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 synonymous_variant 0.675464 0.78873 0.01071 0.732398 0.7840261 0 0.001224919 FALSE 0.000215356 ENSE00002346784_011 ENSE00002346784 011 17 80417818 80417987 + 50 81 39 G A 80417901 3639 84 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTTTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460024 82460025 82460025 exon 34 0.4197531 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAAAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant 15 12 1 0.9190156 0.9595078 425 103 1 1 1 0.9963299 0.9961093 0.9971069 0.8535176 0.003670133 -0.07709372 0.002893051 0.1464824 0.9962196 0.9253123 -0.03671179 0.07468771 0.1113995 FALSE FALSE 0.99 2.32 rs142922828 missense_variant MODERATE NARF HGNC 29916 ENST00000457415 2/12 rs142922828 1 tolerated(0.5) benign(0.287) NA A:0.0005 A:0 AGA G,A 3.295e-05 17:82460025 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 2.352767 0.9325 0.87357 0.732398 0.9881071 0 0.001224919 FALSE 1.21895e-05 ENSE00002346784_012 ENSE00002346784 012 17 80417818 80417987 + 50 81 39 G C 80417903 3640 86 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTGTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460026 82460027 82460027 exon 36 0.4444444 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGACAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 50 287 1 0.9978497 0.9989249 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.002893051 0.1443321 0.9962196 0.9253123 NA 0.07361258 NA FALSE NA 0.999 0.643 . missense_variant MODERATE NARF HGNC 29916 ENST00000457415 2/12 1 tolerated(0.27) benign(0.02) NA AGA G,C 1.647e-05 17:82460027 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 1.724864 0.92639 0.81821 0.732398 0.9042332 0 0.001224919 FALSE 8.12625e-06 ENSE00002346784_015 ENSE00002346784 015 17 80417818 80417987 + 50 81 39 C T 80417915 3643 98 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCAGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460038 82460039 82460039 exon -34 0.5925926 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCTGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 115 100 1 1 1 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.002893051 0.1464824 0.9962196 0.9253123 NA 0.07468771 NA FALSE NA 0 -3.119 . synonymous_variant LOW NARF HGNC 29916 ENST00000457415 2/12 rs368518853 1 NA T:0.0002 T:0 CCG C,T 2.471e-05 17:82460039 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 synonymous_variant 1.519272 0.07991 0.00262 0.732398 0.7950239 0 0.001224919 FALSE 8.12301e-06 ENSE00002346784_017 ENSE00002346784 017 17 80417818 80417987 + 50 81 39 C T 80417923 3645 106 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCAGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460046 82460047 82460047 exon -26 0.691358 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACTGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 932 97 0.9970553 0.998366 0.9977107 0.9963299 0.9961093 0.9971069 0.8535176 NA NA -5.1641e-05 0.1448484 0.9962196 0.9253123 NA 0.07239839 NA FALSE NA 0 0.317 . missense_variant MODERATE NARF HGNC 29916 ENST00000457415 2/12 1 tolerated(0.33) benign(0.002) NA CCG C,T 1.647e-05 17:82460047 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 0.424574 0.1122 0.02926 0.732398 0.7909227 0 0.001224919 FALSE 8.12361e-06 ENSE00002346784_019 ENSE00002346784 019 17 80417818 80417987 + 50 81 39 C T 80417932 3647 115 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGACTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460055 82460056 82460056 exon -17 0.8024691 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGTCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 76 64 1 1 1 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.002893051 0.1464824 0.9962196 0.9253123 NA 0.07468771 NA FALSE NA 0 0.187 . missense_variant MODERATE NARF HGNC 29916 ENST00000457415 2/12 1 tolerated(0.52) benign(0.034) NA GCC C,T 8.236e-06 17:82460056 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 1.674244 0.21341 0.07683 0.732398 0.9464195 0 0.001224919 FALSE 8.12499e-06 ENSE00002346784_020 ENSE00002346784 020 17 80417818 80417987 + 50 81 39 T C 80417942 3648 125 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTCTCCGTTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460065 82460066 82460066 exon -7 0.9259259 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAACGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 573 362 0.9975114 0.9614291 0.9794702 0.9963299 0.9961093 0.9971069 0.8535176 NA NA 0.0004044507 0.1079115 0.9962196 0.9253123 NA 0.05415796 NA FALSE NA 0.002 -0.417 . synonymous_variant LOW NARF HGNC 29916 ENST00000457415 2/12 1 NA ATG T,C 8.236e-06 17:82460066 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 synonymous_variant 0.432156 0.11063 0.02999 0.732398 0.8572308 0 0.001224919 FALSE 8.13246e-06 ENSE00002346784_021 ENSE00002346784 021 17 80417818 80417987 + 50 81 39 G A 80417946 3649 129 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGCCTTTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460069 82460070 82460070 exon -3 0.9753086 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAAAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 30 247 0.8676491 0.9970178 0.9323334 0.9963299 0.9961093 0.9971069 0.8535176 NA NA -0.1294579 0.1435001 0.9962196 0.9253123 NA 0.007021137 NA FALSE NA 1 5.234 . missense_variant&splice_region_variant MODERATE NARF HGNC 29916 ENST00000457415 2/12 rs200622316 1 tolerated(0.09) possibly_damaging(0.68) NA A:0 A:0.0001 AGA G,A 0.0002553 17:82460070 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 5.349803 0.97659 0.96783 0.732398 0.9882944 0 0.001224919 FALSE 0.000345843 ENSE00002346784_022 ENSE00002346784 022 17 80417818 80417987 + 50 81 39 G T 80417949 3650 132 TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGACTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460072 82460073 82460073 downstr_intron 1 1.026316 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGTCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant 174 31 0 0 0 108 82 0.009143878 0.01247655 0.01081022 0.9963299 0.9961093 0.9971069 0.8535176 -0.9963299 -0.9961093 -0.9879631 -0.8410411 0.9962196 0.9253123 -0.9962196 -0.9145021 0.0817175 TRUE TRUE 1 5.234 . splice_donor_variant HIGH NARF HGNC 29916 ENST00000457415 2/11 1 NA LC GGC G,T 8.236e-06 17:82460073 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 splice_donor_variant 4.7722 0.97686 0.97091 0.627647 0.9942343 0 0.001224919 FALSE 4.06967e-06 ENSE00002346784_023 ENSE00002346784 023 17 80417818 80417987 + 50 81 39 A G 80417957 3651 140 TTTACTCTGGGCTGATACAAAACTGAAAAACCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460080 82460081 82460081 downstr_intron 9 1.236842 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGGTTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 1353 513 0.9535625 1 0.9767813 0.9963299 0.9961093 0.9971069 0.8535176 NA NA -0.04354441 0.1464824 0.9962196 0.9253123 NA 0.05146898 NA FALSE NA 0 -0.1 rs140134932 intron_variant MODIFIER NARF HGNC 29916 ENST00000457415 2/11 rs140134932 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 GAT A,G 3.295e-05 17:82460081 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 synonymous_variant 1.604453 0.13141 0.01191 0 0.8208885 0 0.001224919 FALSE 2.03737e-05 ENSE00002346784_024 ENSE00002346784 024 17 80417818 80417987 + 50 81 39 T A 80417959 3652 142 TTTACTCTGGGCTGATACAAAACTGAAATATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460082 82460083 82460083 downstr_intron 11 1.289474 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATATTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant NA NA NA NA NA 24 584 0.9549733 0.997887 0.9764302 0.9963299 0.9961093 0.9971069 0.8535176 NA NA -0.04213366 0.1443694 0.9962196 0.9253123 NA 0.05111788 NA FALSE NA 0 -0.199 . intron_variant MODIFIER NARF HGNC 29916 ENST00000457415 2/11 1 NA TTT T,A 8.236e-06 17:82460083 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 missense_variant 1.376854 0.10352 0.03018 0 0.8685679 0 0.001224919 FALSE NA ENSE00002346784_026 ENSE00002346784 026 17 80417818 80417987 + 50 81 39 A G 80417972 3654 155 TTTACTCTGGGCTGACACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460095 82460096 82460096 downstr_intron 24 1.631579 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTGTCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant 40 147 0.9170227 0.8976373 0.90733 273 473 0.9957011 1 0.9978506 0.9963299 0.9961093 0.9971069 0.8535176 -0.07930721 -0.09847199 -0.001405807 0.1464824 0.9962196 0.9253123 -0.0888896 0.07253828 0.1614279 FALSE FALSE 0 -1.357 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:82460096 NARF HGNC Symbol protein_coding 32357 ENSG00000141562 ENSE00003655622 synonymous_variant -0.300692 0.03549 0.00098 0 0.4861051 0 0.001224919 FALSE 4.06742e-06 ENSE00002346784_027 ENSE00002346784 027 17 80417818 80417987 + 50 81 39 A T 80417972 3655 155 TTTACTCTGGGCTGAAACAAAACTGAAAAATCTACTTGCCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCCTTAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 82460095 82460096 82460096 downstr_intron 24 1.631579 AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTTTCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA mutant 15 26 1 0.9977863 0.9988931 NA NA NA NA NA 0.9963299 0.9961093 0.9971069 0.8535176 0.003670133 0.001676968 NA NA 0.9962196 0.9253123 0.002673551 NA NA NA FALSE 0 -1.357 NA NA NA NARF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NARF NA NA NA ENSG00000141562 ENSE00003655622 synonymous_variant -0.467172 0.05938 0.01711 0 0.506904 0 0.001224919 FALSE 4.06742e-06 ENSE00002346784_BRK ENSE00002346784 BRK 17 80417818 80417987 + 50 81 39 A,G; T,T NA NA NA TTTACTCTGGGCTGATACAAAACTGAAAAATCTACTTGGCTCTCCATTTTCCTGGGCTGGACTCGGTGCATCGGCTGACACATTCTCTTGGTCATCAGTTTTTGTTTTCTTACTACATTCAATAAAAAAGCAAAGGAACATTATCAATGAACTTTTACTTCGTCTCCCTT 82459941 82460111 NA NA NA NA NA NA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTATTGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGCCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA AAGGGAGACGAAGTAAAAGTTCATTGATAATGTTCCTTTGCTTTTTTAAGGAATGTAGTAAGAAAACAAAAACTGATGACCAAGAGAATGTGTCAGCCGATGCACCGAGTCCAGCCCAGGAAAATGGAGAGGCAAGTAGATTTTTCAGTTTTGTATCAGCCCAGAGTAAA control 183 152 0.04937999 0 0.02468999 NA NA NA NA NA 0.9963299 0.9961093 0.9971069 0.8535176 -0.9469499 -0.9961093 NA NA 0.9962196 0.9253123 -0.9715296 NA NA NA TRUE NA NA NA NA NA NARF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NARF NA NA NA ENSG00000141562 ENSE00003655622 NA NA NA NA NA NA NA 0.001224919 FALSE NA ENSE00002347078_000 ENSE00002347078 000 5 112419763 112419932 - 35 90 45 NA NA NA NA NA GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 NA NA NA NA NA NA GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC natural 285 340 0.9437496 0.9606331 0.9521914 1991 3030 0.8895753 0.7859387 0.837757 0.9437496 0.9606331 0.8895753 0.7859387 0 0 0 0 0.9521914 0.837757 0 0 0 FALSE FALSE NA NA NA NA NA MCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MCC NA NA NA ENSG00000171444 ENSE00003760190 NA NA NA NA NA NA NA 2.257779e-08 FALSE NA ENSE00002347078_001 ENSE00002347078 001 5 112419763 112419932 - 35 90 45 G A 112419774 1009 159 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGTAAGAAAGTACC 113084065 113084235 113084076 113084077 113084077 downstr_intron 24 1.705882 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGTAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 49 34 0.9991571 0.9977295 0.9984433 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1095818 0.2117908 0.9521914 0.837757 NA 0.1606863 NA FALSE NA 0 0.325 . intron_variant MODIFIER MCC HGNC 6935 ENST00000302475 8/16 1 NA TGC G,A 8.236e-06 5:113084077 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 intron_variant 0.634856 0.22248 0.05159 0.062308 0.7370886 0.0647611 2.257779e-08 FALSE 4.07206e-06 ENSE00002347078_002 ENSE00002347078 002 5 112419763 112419932 - 35 90 45 T G 112419777 1010 156 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCACGGCAAGAAAGTACC 113084065 113084235 113084079 113084080 113084080 downstr_intron 21 1.617647 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCACGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 34 675 1 0.9919266 0.9959633 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1104247 0.2059879 0.9521914 0.837757 NA 0.1582063 NA FALSE NA 0 -0.666 . intron_variant MODIFIER MCC HGNC 6935 ENST00000302475 8/16 1 NA CTT T,G 1.647e-05 5:113084080 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 intron_variant 0.634388 0.13532 0.04153 0.062308 0.5609644 0.0647611 2.257779e-08 FALSE 1.62847e-05 ENSE00002347078_004 ENSE00002347078 004 5 112419763 112419932 - 35 90 45 C A 112419797 1012 136 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGTTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084099 113084100 113084100 downstr_intron 1 1.029412 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGTTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 259 350 0.001892141 0 0.0009460705 0.9437496 0.9606331 0.8895753 0.7859387 NA NA -0.8876831 -0.7859387 0.9521914 0.837757 NA -0.8368109 NA TRUE NA 1 5.959 . splice_donor_variant HIGH MCC HGNC 6935 ENST00000302475 8/16 1 NA HC ACC C,A 1.647e-05 5:113084100 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 splice_donor_variant 5.712733 0.99029 0.98261 0.062308 0.9955925 0.987231 2.257779e-08 FALSE 4.06157e-06 ENSE00002347078_006 ENSE00002347078 006 5 112419763 112419932 - 35 90 45 A G 112419802 1014 131 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCACAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084104 113084105 113084105 exon -5 0.9555556 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCACAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 395 237 0.95 1 0.975 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.06042472 0.2140613 0.9521914 0.837757 NA 0.137243 NA FALSE NA 1 7.106 . missense_variant MODERATE MCC HGNC 6935 ENST00000302475 8/17 1 tolerated(0.18) benign(0.115) NA TAT A,G 8.236e-06 5:113084105 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 missense_variant 5.123567 0.98876 0.98622 0.706548 0.9928199 0 2.257779e-08 FALSE 8.12236e-06 ENSE00002347078_007 ENSE00002347078 007 5 112419763 112419932 - 35 90 45 G A 112419804 1015 129 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGTATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084106 113084107 113084107 exon -7 0.9333333 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGTATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 419 170 0.9482491 0.8682832 0.9082662 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.05867384 0.08234455 0.9521914 0.837757 NA 0.07050919 NA FALSE NA 1 0.799 . synonymous_variant LOW MCC HGNC 6935 ENST00000302475 8/17 1 NA TGC G,A 8.236e-06 5:113084107 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 synonymous_variant 1.5902 0.95152 0.75525 0.706548 0.6799875 0 2.257779e-08 FALSE 4.06114e-06 ENSE00002347078_008 ENSE00002347078 008 5 112419763 112419932 - 35 90 45 C T 112419805 1016 128 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAACATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084107 113084108 113084108 exon -8 0.9222222 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAACATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 185 28 0.9989469 0.9298252 0.9643861 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1093716 0.1438866 0.9521914 0.837757 NA 0.1266291 NA FALSE NA 1 5.959 . missense_variant MODERATE MCC HGNC 6935 ENST00000302475 8/17 rs201419395 1 tolerated(0.16) benign(0.419) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCT C,T 8.236e-06 5:113084108 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 missense_variant 4.368704 0.98316 0.97474 0.615465 0.9721366 0 2.257779e-08 FALSE 4.06118e-06 ENSE00002347078_009 ENSE00002347078 009 5 112419763 112419932 - 35 90 45 T C 112419816 1017 117 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCGGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084118 113084119 113084119 exon -19 0.8 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCGGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 52 761 1 0.9796731 0.9898365 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1104247 0.1937344 0.9521914 0.837757 NA 0.1520796 NA FALSE NA 0.975 -0.012 . synonymous_variant LOW MCC HGNC 6935 ENST00000302475 8/17 1 NA CTG T,C 8.236e-06 5:113084119 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 synonymous_variant 0.907128 0.96233 0.8022 0.615465 0.6944043 0 2.257779e-08 FALSE 4.06091e-06 ENSE00002347078_010 ENSE00002347078 010 5 112419763 112419932 - 35 90 45 C A 112419820 1018 113 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGTCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084122 113084123 113084123 exon -23 0.7555556 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGTCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 830 19 0.9504622 0.9979715 0.9742169 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.06088695 0.2120328 0.9521914 0.837757 NA 0.1364599 NA FALSE NA 1 5.959 . missense_variant MODERATE MCC HGNC 6935 ENST00000302475 8/17 1 deleterious(0) possibly_damaging(0.826) NA GCC C,A 8.237e-06 5:113084123 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 missense_variant 7.183806 0.98859 0.97962 0.615465 0.9981253 0 2.257779e-08 FALSE 4.06081e-06 ENSE00002347078_011 ENSE00002347078 011 5 112419763 112419932 - 35 90 45 C G 112419821 1019 112 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGCGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084123 113084124 113084124 exon -24 0.7444444 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGCGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 10 40 1 0.9960254 0.9980127 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1104247 0.2100868 0.9521914 0.837757 NA 0.1602557 NA FALSE NA 1 5.959 . missense_variant MODERATE MCC HGNC 6935 ENST00000302475 8/17 1 deleterious(0) probably_damaging(0.945) NA CCC C,G 8.236e-06 5:113084124 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 missense_variant 7.194951 0.98902 0.98082 0.615465 0.9994308 0 2.257779e-08 FALSE 4.06078e-06 ENSE00002347078_013 ENSE00002347078 013 5 112419763 112419932 - 35 90 45 C G 112419822 1021 111 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTCGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084124 113084125 113084125 exon -25 0.7333333 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTCGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 86 78 1 1 1 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1104247 0.2140613 0.9521914 0.837757 NA 0.162243 NA FALSE NA 0.987 0.146 NA NA NA MCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:113084125 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 synonymous_variant 1.357869 0.96079 0.83354 0.615465 0.7665869 0 2.257779e-08 FALSE 4.06072e-06 ENSE00002347078_017 ENSE00002347078 017 5 112419763 112419932 - 35 90 45 T C 112419843 1025 90 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCGTCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084145 113084146 113084146 exon 45 0.5 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCGTCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 178 19 0.9681415 1 0.9840707 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.07856621 0.2140613 0.9521914 0.837757 NA 0.1463138 NA FALSE NA 0 -3.622 rs140724692 synonymous_variant LOW MCC HGNC 6935 ENST00000302475 8/17 rs140724692 1 C:0.0010 C:0.0038 C:0 NA C:0 C:0 C:0 C:0.0036 C:0 ATG T,C 0.00028 5:113084146 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 synonymous_variant 0.293532 0.87783 0.07534 0.615465 0.4607743 0 2.257779e-08 FALSE 0.000255829 ENSE00002347078_020 ENSE00002347078 020 5 112419763 112419932 - 35 90 45 C T 112419851 1028 82 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCAAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084153 113084154 113084154 exon 37 0.4111111 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCAAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 106 17 0.8432066 0.8146497 0.8289282 0.9437496 0.9606331 0.8895753 0.7859387 NA NA -0.04636863 0.02871106 0.9521914 0.837757 NA -0.008828783 NA FALSE NA 1 5.959 . missense_variant MODERATE MCC HGNC 6935 ENST00000302475 8/17 rs373730711 1 tolerated_low_confidence(0.43) benign(0.058) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0.0002 T:0 TCG C,T 9.884e-05 5:113084154 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 missense_variant 4.720415 0.98813 0.97544 0.706298 0.9980283 0 2.257779e-08 FALSE 8.1217e-05 ENSE00002347078_021 ENSE00002347078 021 5 112419763 112419932 - 35 90 45 G A 112419852 1029 81 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCTGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084154 113084155 113084155 exon 36 0.4 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCTGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 75 27 0.9890853 0.95 0.9695426 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.09951 0.1640613 0.9521914 0.837757 NA 0.1317857 NA FALSE NA 0 -2.481 NA NA NA MCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:113084155 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 synonymous_variant 0.910802 0.08294 0.01609 0.615465 0.5088895 0 2.257779e-08 FALSE 0.000121828 ENSE00002347078_023 ENSE00002347078 023 5 112419763 112419932 - 35 90 45 T C 112419860 1031 73 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGGCAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084162 113084163 113084163 exon 28 0.3111111 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGGCAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 414 187 0.980302 0.9018551 0.9410785 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.09072674 0.1159164 0.9521914 0.837757 NA 0.1033216 NA FALSE NA 1 6.025 . missense_variant MODERATE MCC HGNC 6935 ENST00000302475 8/17 1 tolerated(0.07) benign(0.024) NA GTC T,C 1.647e-05 5:113084163 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 missense_variant 4.049769 0.98504 0.98999 0.706548 0.9791713 0 2.257779e-08 FALSE 8.12196e-06 ENSE00002347078_024 ENSE00002347078 024 5 112419763 112419932 - 35 90 45 C T 112419861 1032 72 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAAACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084163 113084164 113084164 exon 27 0.3 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAAACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 298 39 0.9422131 0.95 0.9461065 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.05263778 0.1640613 0.9521914 0.837757 NA 0.1083496 NA FALSE NA 1 3.09 . synonymous_variant LOW MCC HGNC 6935 ENST00000302475 8/17 1 NA TCT C,T 8.236e-06 5:113084164 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 synonymous_variant 2.114299 0.98781 0.94364 0.706548 0.7328382 0 2.257779e-08 FALSE 4.06101e-06 ENSE00002347078_025 ENSE00002347078 025 5 112419763 112419932 - 35 90 45 T C 112419867 1033 66 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTGTCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084169 113084170 113084170 exon 21 0.2333333 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTGTCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 939 48 0.9987663 0.9958738 0.9973201 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1091911 0.2099351 0.9521914 0.837757 NA 0.1595631 NA FALSE NA 0.003 -2.044 . synonymous_variant LOW MCC HGNC 6935 ENST00000302475 8/17 1 NA ATA T,C 1.647e-05 5:113084170 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 synonymous_variant 0.925643 0.65882 0.02489 0.615465 0.7245082 0 2.257779e-08 FALSE 4.06121e-05 ENSE00002347078_026 ENSE00002347078 026 5 112419763 112419932 - 35 90 45 A T 112419868 1034 65 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCAATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084170 113084171 113084171 exon 20 0.2222222 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCAATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 210 81 0.8 0.8 0.8 0.9437496 0.9606331 0.8895753 0.7859387 NA NA -0.08957528 0.01406133 0.9521914 0.837757 NA -0.03775697 NA FALSE NA 1 6.985 . missense_variant MODERATE MCC HGNC 6935 ENST00000302475 8/17 1 deleterious(0) probably_damaging(0.909) NA TAG A,T 8.236e-06 5:113084171 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 missense_variant 6.202896 0.98479 0.99319 0.615465 0.9914332 0 2.257779e-08 FALSE 4.06118e-06 ENSE00002347078_027 ENSE00002347078 027 5 112419763 112419932 - 35 90 45 C T 112419876 1035 57 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGAGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084178 113084179 113084179 exon 12 0.1333333 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGAGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 49 225 1 0.9797221 0.9898611 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1104247 0.1937835 0.9521914 0.837757 NA 0.1521041 NA FALSE NA 0.893 -0.136 . synonymous_variant LOW MCC HGNC 6935 ENST00000302475 8/17 1 NA CCC C,T 1.647e-05 5:113084179 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 synonymous_variant 2.137002 0.94541 0.37644 0.706298 0.6623581 0 2.257779e-08 FALSE 8.12255e-06 ENSE00002347078_031 ENSE00002347078 031 5 112419763 112419932 - 35 90 45 A G 112419898 1039 35 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTCCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084200 113084201 113084201 upstr_intron -11 -0.2222222 GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTCCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 186 267 0.8 0.8128708 0.8064354 0.9437496 0.9606331 0.8895753 0.7859387 NA NA -0.08957528 0.02693209 0.9521914 0.837757 NA -0.03132159 NA FALSE NA 0.024 1.33 . intron_variant MODIFIER MCC HGNC 6935 ENST00000302475 7/16 1 NA GAA A,G 8.236e-06 5:113084201 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 intron_variant 0.887115 0.25242 0.18704 0.062308 0.793043 0.212683 2.257779e-08 FALSE 4.06395e-06 ENSE00002347078_032 ENSE00002347078 032 5 112419763 112419932 - 35 90 45 A G 112419908 1040 25 GGAGTGGTGTGTAGTTTTCTATAACGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 113084210 113084211 113084211 upstr_intron -21 -0.4444444 GGAGTGGTGTGTAGTTTTCTATAACGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC mutant NA NA NA NA NA 51 73 1 0.9989505 0.9994752 0.9437496 0.9606331 0.8895753 0.7859387 NA NA 0.1104247 0.2130118 0.9521914 0.837757 NA 0.1617183 NA FALSE NA 0 -0.534 . intron_variant MODIFIER MCC HGNC 6935 ENST00000302475 7/16 1 NA CAT A,G 2.471e-05 5:113084211 MCC HGNC Symbol protein_coding 466731 ENSG00000171444 ENSE00003760190 intron_variant -0.025926 0.18212 0.1018 0.062308 0.6150296 0.0455939 2.257779e-08 FALSE 2.03455e-05 ENSE00002347078_BRK ENSE00002347078 BRK 5 112419763 112419932 - 35 90 45 A,G; T,T NA NA NA GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTATTATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGCCGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC 113084065 113084235 NA NA NA NA NA NA GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTATTATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGCCGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC GGAGTGGTGTGTAGTTTTCTATAATGTTTTGTTTTCTTTTTTAAGATTGCTGAGAGGGTGAAGCTATCAAAGACAAGGTCCGAATCGTCATCATCTGATCGGCCAGTCCTGGGCTCAGAAATCAGTAGCATAGGGGTGAGTGTTCATGAGAAGCAAGGCAAGAAAGTACC control 59 96 0 0 0 390 60 0.01588326 0.008492804 0.01218803 0.9437496 0.9606331 0.8895753 0.7859387 -0.9437496 -0.9606331 -0.873692 -0.7774459 0.9521914 0.837757 -0.9521914 -0.8255689 0.1266224 TRUE TRUE NA NA NA NA NA MCC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MCC NA NA NA ENSG00000171444 ENSE00003760190 NA NA NA NA NA NA NA 2.257779e-08 FALSE NA ENSE00002347089_000 ENSE00002347089 000 1 243384991 243385160 - 35 90 45 NA NA NA NA NA TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC 243221688 243221858 NA NA NA NA NA NA TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC natural 12 11 1 0.9866979 0.993349 3168 4147 0.9521539 0.8851759 0.9186649 1 0.9866979 0.9521539 0.8851759 0 0 0 0 0.993349 0.9186649 0 0 0 FALSE FALSE NA NA NA NA NA AC092782.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP170 NA NA NA ENSG00000143702 ENSE00003742459 NA NA NA NA NA NA NA NA NA NA ENSE00002347089_001 ENSE00002347089 001 1 243384991 243385160 - 35 90 45 T C 243385017 5379 144 TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAGTGGTTTATTTTTTGTCTTGTTTGAAC 243221688 243221858 243221714 243221715 243221715 downstr_intron 9 1.264706 TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAGTGGTTTATTTTTTGTCTTGTTTGAAC TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC mutant NA NA NA NA NA 98 925 1 0.9862642 0.9931321 1 0.9866979 0.9521539 0.8851759 NA NA 0.04784612 0.1010883 0.993349 0.9186649 NA 0.07446719 NA FALSE NA 0.334 1.826 . upstream_gene_variant MODIFIER AC092782.1 Clone_based_ensembl_gene NA ENST00000596590 1 NA ATT T,C 8.277e-06 1:243221715 CEP170 HGNC Symbol protein_coding 130920 ENSG00000143702 ENSE00003742459 non_coding_transcript_exon_variant 0.341907 0.27652 0.27695 0.156188 0.5920753 0.0887054 NA NA 1.2723e-05 ENSE00002347089_004 ENSE00002347089 004 1 243384991 243385160 - 35 90 45 T C 243385057 5382 104 TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCGTTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC 243221688 243221858 243221754 243221755 243221755 exon -32 0.6555556 TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCGTTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC mutant NA NA NA NA NA 344 83 1 1 1 1 0.9866979 0.9521539 0.8851759 NA NA 0.04784612 0.1148241 0.993349 0.9186649 NA 0.0813351 NA FALSE NA 1 7.618 . upstream_gene_variant MODIFIER AC092782.1 Clone_based_ensembl_gene NA ENST00000596590 1 NA ATG T,C 8.274e-06 1:243221755 CEP170 HGNC Symbol protein_coding 130920 ENSG00000143702 ENSE00003742459 missense_variant 5.507537 0.99126 0.98524 0.706548 0.9973471 0 NA NA 4.08697e-06 ENSE00002347089_006 ENSE00002347089 006 1 243384991 243385160 - 35 90 45 C T 243385071 5384 90 TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCATCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC 243221688 243221858 243221768 243221769 243221769 exon 45 0.5 TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCATCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC mutant NA NA NA NA NA 1067 250 0.9964762 0.9919565 0.9942164 1 0.9866979 0.9521539 0.8851759 NA NA 0.0443223 0.1067806 0.993349 0.9186649 NA 0.07555147 NA FALSE NA 0.085 -0.799 . upstream_gene_variant MODIFIER AC092782.1 Clone_based_ensembl_gene NA ENST00000596590 COSM3377074&COSM3377073 1 NA ACG C,T 1.655e-05 1:243221769 CEP170 HGNC Symbol protein_coding 130920 ENSG00000143702 ENSE00003742459 synonymous_variant 2.831922 0.86736 0.1382 0.706548 0.6840004 0 NA NA 2.85689e-05 ENSE00002347089_009 ENSE00002347089 009 1 243384991 243385160 - 35 90 45 T C 243385102 5387 59 TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGGTAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC 243221688 243221858 243221799 243221800 243221800 exon 14 0.1555556 TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGGTAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC mutant NA NA NA NA NA 287 5671 0.9642463 0.7983523 0.8812993 1 0.9866979 0.9521539 0.8851759 NA NA 0.01209246 -0.08682362 0.993349 0.9186649 NA -0.03736558 NA FALSE NA 1 7.618 rs185188939 upstream_gene_variant MODIFIER AC092782.1 Clone_based_ensembl_gene NA ENST00000596590 rs185188939 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 ATC T,C 7.449e-05 1:243221800 CEP170 HGNC Symbol protein_coding 130920 ENSG00000143702 ENSE00003742459 missense_variant 6.630297 0.99126 0.98524 0.706548 0.9984071 0 NA NA 8.64546e-05 ENSE00002347089_012 ENSE00002347089 012 1 243384991 243385160 - 35 90 45 A G 243385133 5390 28 TTCTAGTATTTTCTTATATTTATTAACCGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC 243221688 243221858 243221830 243221831 243221831 upstr_intron -18 -0.3777778 TTCTAGTATTTTCTTATATTTATTAACCGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC mutant NA NA NA NA NA 1936 537 0.998825 0.9520683 0.9754466 1 0.9866979 0.9521539 0.8851759 NA NA 0.04667108 0.06689235 0.993349 0.9186649 NA 0.05678171 NA FALSE NA 0 0.238 . upstream_gene_variant MODIFIER AC092782.1 Clone_based_ensembl_gene NA ENST00000596590 1 NA CAG A,G 8.285e-06 1:243221831 CEP170 HGNC Symbol protein_coding 130920 ENSG00000143702 ENSE00003742459 intron_variant 0.262482 0.42487 0.30531 0.062308 0.5795564 0.0778423 NA NA NA ENSE00002347089_015 ENSE00002347089 015 1 243384991 243385160 - 35 90 45 A G 243385144 5393 17 TTCTAGTATTTTCTTACATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC 243221688 243221858 243221841 243221842 243221842 upstr_intron -29 -0.6222222 TTCTAGTATTTTCTTACATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC mutant NA NA NA NA NA 538 28 0.9946757 1 0.9973378 1 0.9866979 0.9521539 0.8851759 NA NA 0.04252181 0.1148241 0.993349 0.9186649 NA 0.07867295 NA FALSE NA 0 0.435 NA NA NA AC092782.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:243221842 CEP170 HGNC Symbol protein_coding 130920 ENSG00000143702 ENSE00003742459 intron_variant 0.278428 0.27613 0.12527 0.062308 0.6610973 0.0778423 NA NA 4.6896e-05 ENSE00002347089_BRK ENSE00002347089 BRK 1 243384991 243385160 - 35 90 45 A,G; T,T NA NA NA TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCTTTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGCCAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC 243221688 243221858 NA NA NA NA NA NA TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCTTTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGCCAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC TTCTAGTATTTTCTTATATTTATTAACTGACAACATTCCTTTCAGTCTCGTAGTGTGGATAAGCAACACGCTGTCATCAACTATGATGCGTCTACGGATGAGCATTTAGTGAAGGATTTGGGCAGCCTCAATGGGGTAAGTCAATGGTTTATTTTTTGTCTTGTTTGAAC control 21 63 0 0 0 377 147 0 0.002183739 0.00109187 1 0.9866979 0.9521539 0.8851759 -1 -0.9866979 -0.9521539 -0.8829922 0.993349 0.9186649 -0.993349 -0.917573 0.07577593 TRUE TRUE NA NA NA NA NA AC092782.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CEP170 NA NA NA ENSG00000143702 ENSE00003742459 NA NA NA NA NA NA NA NA NA NA ENSE00002347444_000 ENSE00002347444 000 2 219530838 219531007 - 44 72 54 NA NA NA NA NA CTTGCTCACCGTTCTTCCCCCTACCCCCGTTTAATCAGTGTCTTCTCTCCTCAGAAAGGGAAGGAAATTCTCACAGATAACAACATCCCTCATGGCCAGTGTGTCATCTGCCTCTATGGTTTCCAGGTGGGTTTCTCTCTTGGGACCTGGCATTCTGTTTGGGACCAGCA 218666114 218666284 NA NA NA NA NA NA CTTGCTCACCGTTCTTCCCCCTACCCCCGTTTAATCAGTGTCTTCTCTCCTCAGAAAGGGAAGGAAATTCTCACAGATAACAACATCCCTCATGGCCAGTGTGTCATCTGCCTCTATGGTTTCCAGGTGGGTTTCTCTCTTGGGACCTGGCATTCTGTTTGGGACCAGCA CTTGCTCACCGTTCTTCCCCCTACCCCCGTTTAATCAGTGTCTTCTCTCCTCAGAAAGGGAAGGAAATTCTCACAGATAACAACATCCCTCATGGCCAGTGTGTCATCTGCCTCTATGGTTTCCAGGTGGGTTTCTCTCTTGGGACCTGGCATTCTGTTTGGGACCAGCA natural NA NA NA NA NA 22 307 1 0.9837875 0.9918937 NA NA 1 0.9837875 NA NA 0 0 NA 0.9918937 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003603318 NA NA NA NA NA NA NA NA NA NA ENSE00002347459_000 ENSE00002347459 000 7 37311383 37311552 - 54 51 65 NA NA NA NA NA CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC 37271777 37271947 NA NA NA NA NA NA CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC natural NA NA NA NA NA 1081 1019 0.7029555 0.7423573 0.7226564 NA NA 0.7029555 0.7423573 NA NA 0 0 NA 0.7226564 NA 0 NA FALSE NA NA NA NA NA NA ELMO1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELMO1 NA NA NA ENSG00000155849 ENSE00003785658 NA NA NA NA NA NA NA 0.9930006 TRUE NA ENSE00002347459_010 ENSE00002347459 010 7 37311383 37311552 - 54 51 65 T C 37311463 844 90 CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCGCTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC 37271777 37271947 37271857 37271858 37271858 exon 25 0.4901961 CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCGCTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC mutant NA NA NA NA NA 1041 55 0.9974151 0.9523618 0.9748884 NA NA 0.7029555 0.7423573 NA NA 0.2944596 0.2100046 NA 0.7226564 NA 0.2522321 NA FALSE NA 1 0.604 . missense_variant MODERATE ELMO1 HGNC 16286 ENST00000442504 5/22 1 tolerated(0.19) benign(0.001) NA GTG T,C 8.236e-06 7:37271858 ELMO1 HGNC Symbol protein_coding 594888 ENSG00000155849 ENSE00003785658 missense_variant 1.71172 0.96867 0.42466 0.732398 0.9828442 0 0.9930006 TRUE 4.0665e-06 ENSE00002347459_011 ENSE00002347459 011 7 37311383 37311552 - 54 51 65 A G 37311479 845 74 CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAACGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC 37271777 37271947 37271873 37271874 37271874 exon 9 0.1764706 CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAACGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC mutant NA NA NA NA NA 80 106 1 1 1 NA NA 0.7029555 0.7423573 NA NA 0.2970445 0.2576427 NA 0.7226564 NA 0.2773436 NA FALSE NA 1 1.737 rs149722496 synonymous_variant LOW ELMO1 HGNC 16286 ENST00000442504 5/22 rs149722496 1 NA G:0.0005 G:0 CAT A,G 8.236e-06 7:37271874 ELMO1 HGNC Symbol protein_coding 594888 ENSG00000155849 ENSE00003785658 synonymous_variant 0.523213 0.96213 0.59284 0.732398 0.6894876 0 0.9930006 TRUE 8.1367e-06 ENSE00002347459_016 ENSE00002347459 016 7 37311383 37311552 - 54 51 65 A G 37311497 850 56 CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTCCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC 37271777 37271947 37271891 37271892 37271892 upstr_intron -10 -0.1384615 CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTCCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC mutant NA NA NA NA NA 145 48 1 1 1 NA NA 0.7029555 0.7423573 NA NA 0.2970445 0.2576427 NA 0.7226564 NA 0.2773436 NA FALSE NA 1 4.149 . intron_variant MODIFIER ELMO1 HGNC 16286 ENST00000442504 4/21 1 NA GAA A,G 8.236e-06 7:37271892 ELMO1 HGNC Symbol protein_coding 594888 ENSG00000155849 ENSE00003785658 intron_variant 1.421889 0.96157 0.83035 0.106106 0.8427949 0.502584 0.9930006 TRUE 8.14976e-06 ENSE00002347459_017 ENSE00002347459 017 7 37311383 37311552 - 54 51 65 A G 37311498 851 55 CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCCTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC 37271777 37271947 37271892 37271893 37271893 upstr_intron -11 -0.1538462 CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCCTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC mutant NA NA NA NA NA 1259 22 1 1 1 NA NA 0.7029555 0.7423573 NA NA 0.2970445 0.2576427 NA 0.7226564 NA 0.2773436 NA FALSE NA 0.995 1.814 . intron_variant MODIFIER ELMO1 HGNC 16286 ENST00000442504 4/21 1 NA AAG A,G 8.236e-06 7:37271893 ELMO1 HGNC Symbol protein_coding 594888 ENSG00000155849 ENSE00003785658 intron_variant 1.404103 0.95719 0.68504 0.106106 0.8474591 0.51029 0.9930006 TRUE 4.07744e-06 ENSE00002347459_020 ENSE00002347459 020 7 37311383 37311552 - 54 51 65 T C 37311524 854 29 CCTTTGTTCTCTTCTTTACCAAGCTTCTGCTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC 37271777 37271947 37271918 37271919 37271919 upstr_intron -37 -0.5538462 CCTTTGTTCTCTTCTTTACCAAGCTTCTGCTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC CCTTTGTTCTCTTCTTTACCAAGCTTCTACTTGAAAATTTACAAAGATTTTTTCTTCTTTTCCAGAACCGCAATGAGATAAAAAATGGCACTATCCTTCGATTAACCACATCTCCAGTAAGTTGATCTTAGCTTCTGACTTCCAGCAAACTCTTTGCTCTGCGTTTCTGC mutant NA NA NA NA NA 83 109 1 1 1 NA NA 0.7029555 0.7423573 NA NA 0.2970445 0.2576427 NA 0.7226564 NA 0.2773436 NA FALSE NA 0.001 0.065 . intron_variant MODIFIER ELMO1 HGNC 16286 ENST00000442504 4/21 1 NA GTA T,C 8.237e-06 7:37271919 ELMO1 HGNC Symbol protein_coding 594888 ENSG00000155849 ENSE00003785658 intron_variant 0.080362 0.17208 0.06301 0.088506 0.5171697 0.152421 0.9930006 TRUE 4.10081e-06 ENSE00002347896_000 ENSE00002347896 000 5 150414516 150414685 - 47 66 57 NA NA NA NA NA GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 NA NA NA NA NA NA GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC natural 84 109 0.957153 0.9450222 0.9510876 1067 622 0.9734198 0.8948558 0.9341378 0.957153 0.9450222 0.9734198 0.8948558 0 0 0 0 0.9510876 0.9341378 0 0 0 FALSE FALSE NA NA NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP1 NA NA NA ENSG00000145901 ENSE00003519404 NA NA NA NA NA NA NA 0.9296892 TRUE NA ENSE00002347896_001 ENSE00002347896 001 5 150414516 150414685 - 47 66 57 G A 150414530 1806 156 GAAGGTAAGAGGATATCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151034968 151034969 151034969 downstr_intron 33 1.717391 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGATATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 99 12 0.9995836 1 0.9997918 0.957153 0.9450222 0.9734198 0.8948558 NA NA 0.02616372 0.1051442 0.9510876 0.9341378 NA 0.06565394 NA FALSE NA 0.001 0.488 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000518977 15/17 rs374723942 1 NA A:0 A:0.0001 TGT G,A 1.647e-05 5:151034969 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 non_coding_transcript_exon_variant 0.329246 0.21036 0.09585 0.283894 0.6697899 0.139676 0.9296892 TRUE 4.08677e-05 ENSE00002347896_002 ENSE00002347896 002 5 150414516 150414685 - 47 66 57 C T 150414537 1807 149 GAAGGTAAGAGGATGTCAGTGTTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151034975 151034976 151034976 downstr_intron 26 1.565217 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAACACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 97 153 0.9776814 0.9719115 0.9747964 0.957153 0.9450222 0.9734198 0.8948558 NA NA 0.004261539 0.07705564 0.9510876 0.9341378 NA 0.04065859 NA FALSE NA 0.002 1.209 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000518977 15/17 1 NA GCT C,T 8.236e-06 5:151034976 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 non_coding_transcript_exon_variant 0.672457 0.49558 0.13711 0.283894 0.834774 0.922464 0.9296892 TRUE 4.07807e-06 ENSE00002347896_003 ENSE00002347896 003 5 150414516 150414685 - 47 66 57 G C 150414539 1808 147 GAAGGTAAGAGGATGTCAGTGCTCCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151034977 151034978 151034978 downstr_intron 24 1.521739 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGGAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 41 355 1 0.9968293 0.9984146 0.957153 0.9450222 0.9734198 0.8948558 NA NA 0.02658015 0.1019734 0.9510876 0.9341378 NA 0.06427679 NA FALSE NA 0.002 0.317 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000518977 15/17 1 NA TGC G,C 0.0001483 5:151034978 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 non_coding_transcript_exon_variant -0.104485 0.29454 0.12493 0.283894 0.7459652 0.150641 0.9296892 TRUE 0.000142622 ENSE00002347896_006 ENSE00002347896 006 5 150414516 150414685 - 47 66 57 C A 150414554 1811 132 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGACTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151034992 151034993 151034993 downstr_intron 9 1.195652 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGTCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 192 477 0.942943 0.9447795 0.9438613 0.957153 0.9450222 0.9734198 0.8948558 NA NA -0.03047681 0.04992369 0.9510876 0.9341378 NA 0.009723443 NA FALSE NA 0.962 0.298 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000518977 15/17 1 NA GCC C,A 1.647e-05 5:151034993 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 non_coding_transcript_exon_variant 2.090549 0.70918 0.6971 0.283894 0.8332369 0.461802 0.9296892 TRUE 8.13405e-06 ENSE00002347896_007 ENSE00002347896 007 5 150414516 150414685 - 47 66 57 C A 150414560 1812 126 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTAACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151034998 151034999 151034999 downstr_intron 3 1.065217 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTTAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 162 53 0.0172545 0 0.008627251 0.957153 0.9450222 0.9734198 0.8948558 NA NA -0.9561653 -0.8948558 0.9510876 0.9341378 NA -0.9255106 NA TRUE NA 1 0.933 . splice_region_variant&intron_variant LOW TNIP1 HGNC 16903 ENST00000518977 15/17 1 NA TCA C,A 4.118e-05 5:151034999 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 splice_region_variant 2.303906 0.91136 0.77117 0.256867 0.8792893 0.55314 0.9296892 TRUE 2.4395e-05 ENSE00002347896_008 ENSE00002347896 008 5 150414516 150414685 - 47 66 57 T C 150414574 1813 112 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCCCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151035012 151035013 151035013 exon -12 0.8333333 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGGGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 98 76 0.8 0.8 0.8 0.957153 0.9450222 0.9734198 0.8948558 NA NA -0.1734198 -0.09485584 0.9510876 0.9341378 NA -0.1341378 NA FALSE NA 1 0.993 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000518977 15/18 1 tolerated(0.12) benign(0.03) NA CTC T,C 1.647e-05 5:151035013 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 missense_variant 4.490489 0.92158 0.87051 0.706548 0.9755925 0 0.9296892 TRUE 1.62561e-05 ENSE00002347896_009 ENSE00002347896 009 5 150414516 150414685 - 47 66 57 T G 150414576 1814 110 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCGTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151035014 151035015 151035015 exon -14 0.8030303 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGACGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 12 171 0.95 0.9848933 0.9674467 0.957153 0.9450222 0.9734198 0.8948558 NA NA -0.02341985 0.0900375 0.9510876 0.9341378 NA 0.03330883 NA FALSE NA 1 1.685 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000518977 15/18 1 tolerated(0.1) possibly_damaging(0.735) NA CTT T,G 8.236e-06 5:151035015 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 missense_variant 4.671031 0.93129 0.89069 0.706548 0.9960306 0 0.9296892 TRUE 8.12783e-06 ENSE00002347896_011 ENSE00002347896 011 5 150414516 150414685 - 47 66 57 C T 150414592 1816 94 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGTTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151035030 151035031 151035031 exon -30 0.5606061 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAACCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 644 166 0.9521886 0.95 0.9510943 0.957153 0.9450222 0.9734198 0.8948558 NA NA -0.02123129 0.05514416 0.9510876 0.9341378 NA 0.01695644 NA FALSE NA 1 1.731 . missense_variant MODERATE TNIP1 HGNC 16903 ENST00000518977 15/18 1 tolerated(0.52) benign(0.013) NA GCT C,T 8.236e-06 5:151035031 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 missense_variant 2.769881 0.90904 0.76325 0.706548 0.9813654 0 0.9296892 TRUE 8.12955e-06 ENSE00002347896_014 ENSE00002347896 014 5 150414516 150414685 - 47 66 57 G A 150414642 1819 44 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGAGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151035080 151035081 151035081 upstr_intron -14 -0.2280702 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCTCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 110 74 1 1 1 0.957153 0.9450222 0.9734198 0.8948558 NA NA 0.02658015 0.1051442 0.9510876 0.9341378 NA 0.06586215 NA FALSE NA 0.689 1.003 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000518977 14/17 rs557468039 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGG G,A 8.237e-06 5:151035081 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 intron_variant 1.291397 0.43892 0.52502 0.069865 0.7616809 0.155319 0.9296892 TRUE NA ENSE00002347896_016 ENSE00002347896 016 5 150414516 150414685 - 47 66 57 A G 150414651 1821 35 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAGAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151035089 151035090 151035090 upstr_intron -23 -0.3859649 GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTCTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 497 51 0.9641647 0.942425 0.9532948 0.957153 0.9450222 0.9734198 0.8948558 NA NA -0.009255194 0.04756913 0.9510876 0.9341378 NA 0.01915697 NA FALSE NA 0.006 0.169 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000518977 14/17 1 NA AAA A,G 8.238e-06 5:151035090 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 intron_variant 0.506845 0.14517 0.00463 0.069865 0.7363414 0.155319 0.9296892 TRUE 4.14876e-06 ENSE00002347896_017 ENSE00002347896 017 5 150414516 150414685 - 47 66 57 T C 150414659 1822 27 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGCCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151035097 151035098 151035098 upstr_intron -31 -0.5263158 GGCCTGGCCAGAAACCACCTGTGCCGGCAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 17 503 0 0 0 0.957153 0.9450222 0.9734198 0.8948558 NA NA -0.9734198 -0.8948558 0.9510876 0.9341378 NA -0.9341378 NA TRUE NA 0 -0.305 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000518977 14/17 1 NA GTC T,C 2.472e-05 5:151035098 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 intron_variant 0.581467 0.21798 0.06678 0.069865 0.816579 0.155319 0.9296892 TRUE 8.51586e-06 ENSE00002347896_018 ENSE00002347896 018 5 150414516 150414685 - 47 66 57 C A 150414660 1823 26 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTAGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151035098 151035099 151035099 upstr_intron -32 -0.5438596 GGCCTGGCCAGAAACCACCTGTGCCTACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 97 358 0.9340401 0.9596281 0.9468341 0.957153 0.9450222 0.9734198 0.8948558 NA NA -0.03937974 0.06477222 0.9510876 0.9341378 NA 0.01269624 NA FALSE NA 0.001 0.703 NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151035099 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 intron_variant 1.147335 0.23143 0.10028 0.069865 0.8351746 0.155319 0.9296892 TRUE 4.26719e-06 ENSE00002347896_020 ENSE00002347896 020 5 150414516 150414685 - 47 66 57 G A 150414661 1825 25 GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCACCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGCTGAGAGAAGAAGGGAGGGAGAAAAGACTGTCAGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 151035099 151035100 151035100 upstr_intron -33 -0.5614035 GGCCTGGCCAGAAACCACCTGTGCTGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC mutant NA NA NA NA NA 178 1350 0.996241 0.9968082 0.9965246 0.957153 0.9450222 0.9734198 0.8948558 NA NA 0.0228212 0.1019524 0.9510876 0.9341378 NA 0.06238678 NA FALSE NA 0.001 -0.181 . intron_variant MODIFIER TNIP1 HGNC 16903 ENST00000518977 14/17 1 NA CGG G,A 8.24e-06 5:151035100 TNIP1 HGNC Symbol protein_coding 63632 ENSG00000145901 ENSE00003519404 intron_variant 0.785899 0.19541 0.0575 0.069865 0.7790991 0.155319 0.9296892 TRUE 1.29046e-05 ENSE00002347896_BRK ENSE00002347896 BRK 5 150414516 150414685 - 47 66 57 A,G; T,T NA NA NA GAAGGTAAGAGGATGTCAGTGCTGCTACCTCCCTCAAGCCTCCTCGGCTTTGCTTTCCTCTTCTGCTGTCTGAGGGCTTCTCTTGCCTTCTCCTCATCTTTGAATGCTTTTAGAAGAGAGAAGAAGGGAGGGAGAAAAGACTGTCGGCACAGGTGGTTTCTGGCCAGGCC 151034954 151035124 NA NA NA NA NA NA GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCTTCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGCCGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC GGCCTGGCCAGAAACCACCTGTGCCGACAGTCTTTTCTCCCTCCCTTCTTCTCTCAGCTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCCCTCAGACAGCAGAAGAGGAAAGCAAAGGTGAGGAGGCTTGAGGGAGGTAGCAGCACTGACATCCTCTTACCTTC control 79 40 0 0 0 35 249 0 0 0 0.957153 0.9450222 0.9734198 0.8948558 -0.957153 -0.9450222 -0.9734198 -0.8948558 0.9510876 0.9341378 -0.9510876 -0.9341378 0.0169498 TRUE TRUE NA NA NA NA NA TNIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TNIP1 NA NA NA ENSG00000145901 ENSE00003519404 NA NA NA NA NA NA NA 0.9296892 TRUE NA ENSE00002347961_000 ENSE00002347961 000 1 208070799 208070968 - 39 81 50 NA NA NA NA NA GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 NA NA NA NA NA NA GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT natural 61 52 0.9546057 0.9848502 0.969728 2115 2353 0.8662559 0.9940307 0.9301433 0.9546057 0.9848502 0.8662559 0.9940307 0 0 0 0 0.969728 0.9301433 0 0 0 FALSE FALSE NA NA NA NA NA CD34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD34 NA NA NA ENSG00000174059 ENSE00003682590 NA NA NA NA NA NA NA 0.003449569 FALSE NA ENSE00002347961_003 ENSE00002347961 003 1 208070799 208070968 - 39 81 50 G A 208070828 4980 141 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAATCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 207897482 207897483 207897483 downstr_intron 10 1.263158 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAATCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT mutant NA NA NA NA NA 159 257 0.9990348 0.9998518 0.9994433 0.9546057 0.9848502 0.8662559 0.9940307 NA NA 0.1327789 0.005821056 0.969728 0.9301433 NA 0.06929997 NA FALSE NA 0.001 0.826 . intron_variant MODIFIER CD34 HGNC 1662 ENST00000356522 4/7 rs377027192 1 NA A:0.0007 A:0 GGT G,A 8.803e-06 1:207897483 CD34 HGNC Symbol protein_coding 30430 ENSG00000174059 ENSE00003682590 intron_variant 0.190097 0.14462 0.02363 0.088285 0.5745918 0.0767086 0.003449569 FALSE NA ENSE00002347961_004 ENSE00002347961 004 1 208070799 208070968 - 39 81 50 G C 208070847 4981 122 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACGTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 207897501 207897502 207897502 exon -10 0.8888889 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACGTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT mutant NA NA NA NA NA 93 793 0.9849218 0.9967463 0.9908341 0.9546057 0.9848502 0.8662559 0.9940307 NA NA 0.1186658 0.002715615 0.969728 0.9301433 NA 0.06069072 NA FALSE NA 1 1.486 . synonymous_variant LOW CD34 HGNC 1662 ENST00000356522 4/8 1 NA AGG G,C 3.467e-05 1:207897502 CD34 HGNC Symbol protein_coding 30430 ENSG00000174059 ENSE00003682590 synonymous_variant 0.724549 0.84666 0.34791 0.631981 0.7843685 0 0.003449569 FALSE 7.37898e-05 ENSE00002347961_005 ENSE00002347961 005 1 208070799 208070968 - 39 81 50 T G 208070857 4982 112 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCCAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 207897511 207897512 207897512 exon -20 0.7654321 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCCAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT mutant NA NA NA NA NA 169 583 1 1 1 0.9546057 0.9848502 0.8662559 0.9940307 NA NA 0.1337441 0.005969274 0.969728 0.9301433 NA 0.06985667 NA FALSE NA 0.619 0.407 . missense_variant MODERATE CD34 HGNC 1662 ENST00000356522 4/8 1 deleterious(0.02) benign(0.176) NA TTG T,G 8.638e-06 1:207897512 CD34 HGNC Symbol protein_coding 30430 ENSG00000174059 ENSE00003682590 missense_variant 3.108428 0.84862 0.06328 0.631981 0.9578841 0 0.003449569 FALSE 6.09585e-06 ENSE00002347961_006 ENSE00002347961 006 1 208070799 208070968 - 39 81 50 G C 208070871 4983 98 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGGATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 207897525 207897526 207897526 exon -34 0.5925926 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGGATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT mutant NA NA NA NA NA 358 831 1 1 1 0.9546057 0.9848502 0.8662559 0.9940307 NA NA 0.1337441 0.005969274 0.969728 0.9301433 NA 0.06985667 NA FALSE NA 0.194 0.364 . synonymous_variant LOW CD34 HGNC 1662 ENST00000356522 4/8 1 NA TGC G,C 8.669e-06 1:207897526 CD34 HGNC Symbol protein_coding 30430 ENSG00000174059 ENSE00003682590 synonymous_variant 0.075436 0.11944 0.10007 0.631981 0.6734439 0 0.003449569 FALSE NA ENSE00002347961_007 ENSE00002347961 007 1 208070799 208070968 - 39 81 50 A C 208070887 4984 82 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGGGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 207897541 207897542 207897542 exon 32 0.3950617 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGGGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT mutant NA NA NA NA NA 693 208 0.9973465 1 0.9986733 0.9546057 0.9848502 0.8662559 0.9940307 NA NA 0.1310906 0.005969274 0.969728 0.9301433 NA 0.06852994 NA FALSE NA 1 4.321 . missense_variant MODERATE CD34 HGNC 1662 ENST00000356522 4/8 1 deleterious(0) benign(0.431) NA CAC A,C 1.756e-05 1:207897542 CD34 HGNC Symbol protein_coding 30430 ENSG00000174059 ENSE00003682590 missense_variant 3.558529 0.93507 0.84221 0.631981 0.9922428 0 0.003449569 FALSE 6.25774e-06 ENSE00002347961_010 ENSE00002347961 010 1 208070799 208070968 - 39 81 50 A G 208070929 4987 40 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGCTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 207897583 207897584 207897584 upstr_intron -11 -0.2 GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGCTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT mutant NA NA NA NA NA 34 488 0.9987833 1 0.9993916 0.9546057 0.9848502 0.8662559 0.9940307 NA NA 0.1325273 0.005969274 0.969728 0.9301433 NA 0.06924831 NA FALSE NA 0.001 0.252 . intron_variant MODIFIER CD34 HGNC 1662 ENST00000356522 3/7 1 NA AAC A,G 1.083e-05 1:207897584 CD34 HGNC Symbol protein_coding 30430 ENSG00000174059 ENSE00003682590 intron_variant 0.523932 0.75727 0.15689 0.049104 0.6805554 0.212267 0.003449569 FALSE 6.06731e-05 ENSE00002347961_012 ENSE00002347961 012 1 208070799 208070968 - 39 81 50 A G 208070941 4989 28 GATACTGGCTTATTTACTTTGTTTTTGCTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 207897595 207897596 207897596 upstr_intron -23 -0.44 GATACTGGCTTATTTACTTTGTTTTTGCTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT mutant NA NA NA NA NA 814 799 0.996157 0.9940149 0.9950859 0.9546057 0.9848502 0.8662559 0.9940307 NA NA 0.129901 -1.585392e-05 0.969728 0.9301433 NA 0.06494259 NA FALSE NA 0.161 0.232 . intron_variant MODIFIER CD34 HGNC 1662 ENST00000356522 3/7 rs369070171 1 G:0.0024 G:0 G:0 NA G:0 G:0 G:0.0123 AAC A,G 0.001872 1:207897596 CD34 HGNC Symbol protein_coding 30430 ENSG00000174059 ENSE00003682590 intron_variant 0.09272 0.24264 0.04438 0.055872 0.8066633 0.0455939 0.003449569 FALSE 0.00253318 ENSE00002347961_BRK ENSE00002347961 BRK 1 208070799 208070968 - 39 81 50 A,G; T,T NA NA NA GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACTTGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTCCAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT 207897453 207897623 NA NA NA NA NA NA GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACTTGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTCCAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT GATACTGGCTTATTTACTTTGTTTTTGTTATTGTTTTTGTTTTAATACAGGCAGAAATCAAATGTTCAGGCATCAGAGAAGTGAAATTGACTCAGGGCATCTGCCTGGAGCAAAATAAGACCTCCAGCTGTGTAAGTCAACCCCCCACCCAACCTCTTCCTCCCGCCCCT control NA NA NA NA NA 3019 123 0.002624631 0.002611925 0.002618278 0.9546057 0.9848502 0.8662559 0.9940307 NA NA -0.8636313 -0.9914188 0.969728 0.9301433 NA -0.9275251 NA TRUE NA NA NA NA NA NA CD34 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD34 NA NA NA ENSG00000174059 ENSE00003682590 NA NA NA NA NA NA NA 0.003449569 FALSE NA ENSE00002348206_000 ENSE00002348206 000 6 33403251 33403420 + 41 99 30 NA NA NA NA NA ACAGGTTGTGTCCCCTTTATTCCCCAATACCTTGTTGGGCTTTACTGCCCGCTGCAGATTCTCAATCCATTTGTCTCTTTCGGCCGCAGACCGACAGGCAAAGCATTTTGTTCCTGATGAAGTTGTTACCTAGAAAGGAGTGTGGAGTTGAGGGAAAGGGCTACAGAGGG 33435473 33435643 NA NA NA NA NA NA CCCTCTGTAGCCCTTTCCCTCAACTCCACACTCCTTTCTAGGTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGTATTGGGGAATAAAGGGGACACAACCTGT CCCTCTGTAGCCCTTTCCCTCAACTCCACACTCCTTTCTAGGTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGTATTGGGGAATAAAGGGGACACAACCTGT natural 70 134 0.997428 0.9205113 0.9589696 2186 941 0.9570355 0.9891416 0.9730886 0.997428 0.9205113 0.9570355 0.9891416 0 0 0 0 0.9589696 0.9730886 0 0 0 FALSE FALSE NA NA NA NA NA SYNGAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNGAP1 NA NA NA ENSG00000197283 ENSE00003614194 NA NA NA NA NA NA NA 0.9999984 TRUE NA ENSE00002348206_004 ENSE00002348206 004 6 33403251 33403420 + 41 99 30 A G 33403294 956 44 ACAGGTTGTGTCCCCTTTATTCCCCAATACCTTGTTGGGCTTTACTGCCCGCTGCAGATTCTCAATCCATTTGTCTCTTTCGGCCGCAGACCGACAGGCAAAGCATTTTGTTCCTGATGAAGTTGTCACCTAGAAAGGAGTGTGGAGTTGAGGGAAAGGGCTACAGAGGG 33435473 33435643 33435516 33435517 33435517 exon 3 0.03030303 CCCTCTGTAGCCCTTTCCCTCAACTCCACACTCCTTTCTAGGTGACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGTATTGGGGAATAAAGGGGACACAACCTGT CCCTCTGTAGCCCTTTCCCTCAACTCCACACTCCTTTCTAGGTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGTATTGGGGAATAAAGGGGACACAACCTGT mutant NA NA NA NA NA 186 919 1 0.9983633 0.9991816 0.997428 0.9205113 0.9570355 0.9891416 NA NA 0.04296448 0.009221667 0.9589696 0.9730886 NA 0.02609307 NA FALSE NA 0.978 0.06 . upstream_gene_variant MODIFIER SYNGAP1 HGNC 11497 ENST00000495633 1 NA TAA A,G 1.647e-05 6:33435517 SYNGAP1 HGNC Symbol protein_coding 37880 ENSG00000197283 ENSE00003614194 splice_region_variant 1.93534 0.95274 0.4944 0.706548 0.8609229 0 0.9999984 TRUE 4.06055e-06 ENSE00002348206_009 ENSE00002348206 009 6 33403251 33403420 + 41 99 30 G A 33403336 961 86 ACAGGTTGTGTCCCCTTTATTCCCCAATACCTTGTTGGGCTTTACTGCCCGCTGCAGATTCTCAATCCATTTGTCTCTTTCGGCTGCAGACCGACAGGCAAAGCATTTTGTTCCTGATGAAGTTGTTACCTAGAAAGGAGTGTGGAGTTGAGGGAAAGGGCTACAGAGGG 33435473 33435643 33435558 33435559 33435559 exon 45 0.4545455 CCCTCTGTAGCCCTTTCCCTCAACTCCACACTCCTTTCTAGGTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCAGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGTATTGGGGAATAAAGGGGACACAACCTGT CCCTCTGTAGCCCTTTCCCTCAACTCCACACTCCTTTCTAGGTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAGGTATTGGGGAATAAAGGGGACACAACCTGT mutant NA NA NA NA NA 806 26 0.9974666 1 0.9987333 0.997428 0.9205113 0.9570355 0.9891416 NA NA 0.04043106 0.0108584 0.9589696 0.9730886 NA 0.02564473 NA FALSE NA 0 -2.755 NA NA NA SYNGAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:33435559 SYNGAP1 HGNC Symbol protein_coding 37880 ENSG00000197283 ENSE00003614194 synonymous_variant 1.691839 0.2066 0.02904 0.706548 0.8498971 0 0.9999984 TRUE 0.000101529 ENSE00002348383_000 ENSE00002348383 000 2 207564825 207564994 - 44 72 54 NA NA NA NA NA GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 NA NA NA NA NA NA GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT natural 38 24 0.9967689 0.9821808 0.9894748 899 816 0.9814016 0.993261 0.9873313 0.9967689 0.9821808 0.9814016 0.993261 0 0 0 0 0.9894748 0.9873313 0 0 0 FALSE FALSE NA NA NA NA NA DYTN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYTN NA NA NA ENSG00000232125 ENSE00003559190 NA NA NA NA NA NA NA 2.804134e-15 FALSE NA ENSE00002348383_001 ENSE00002348383 001 2 207564825 207564994 - 44 72 54 G A 207564847 4283 148 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCTTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700122 206700123 206700123 downstr_intron 22 1.511628 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCTTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 180 171 0.9950976 0.9641573 0.9796274 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01369601 -0.02910366 0.9894748 0.9873313 NA -0.007703824 NA FALSE NA 0 -0.016 . intron_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/3 1 NA AGG G,A 8.271e-06 2:206700123 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 intron_variant 1.060888 0.22661 0.0444 0.071543 0.7881164 0.0436289 2.804134e-15 FALSE 8.15627e-06 ENSE00002348383_002 ENSE00002348383 002 2 207564825 207564994 - 44 72 54 G A 207564848 4284 147 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCTCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700123 206700124 206700124 downstr_intron 21 1.488372 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCTCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 107 1234 1 0.9358775 0.9679387 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 -0.05738351 0.9894748 0.9873313 NA -0.01939254 NA FALSE NA 0 0.538 . intron_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/3 1 NA GGG G,A 1.654e-05 2:206700124 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 intron_variant 1.238607 0.35003 0.20408 0.071543 0.7630122 0.0436289 2.804134e-15 FALSE 2.85442e-05 ENSE00002348383_003 ENSE00002348383 003 2 207564825 207564994 - 44 72 54 G A 207564849 4285 146 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTTCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700124 206700125 206700125 downstr_intron 20 1.465116 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTTCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 406 14 0.9935222 1 0.9967611 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01212058 0.006739035 0.9894748 0.9873313 NA 0.009429805 NA FALSE NA 0.001 0.943 . intron_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/3 1 NA GGA G,A 8.271e-06 2:206700125 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 intron_variant 0.822259 0.27573 0.20761 0.071543 0.7745935 0.0436289 2.804134e-15 FALSE 8.15528e-06 ENSE00002348383_004 ENSE00002348383 004 2 207564825 207564994 - 44 72 54 C A 207564857 4286 138 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTTCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700132 206700133 206700133 downstr_intron 12 1.27907 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTTCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 284 94 1 1 1 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 0.006739035 0.9894748 0.9873313 NA 0.01266873 NA FALSE NA 0 -0.19 . intron_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/3 1 NA GCA C,A 8.271e-06 2:206700133 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 intron_variant 1.463203 0.22093 0.08723 0.071543 0.7909677 0.0431032 2.804134e-15 FALSE 4.07671e-06 ENSE00002348383_006 ENSE00002348383 006 2 207564825 207564994 - 44 72 54 C T 207564871 4288 124 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAAGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700146 206700147 206700147 exon -3 0.9722222 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAAGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 231 228 1 0.985219 0.9926095 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 -0.008041973 0.9894748 0.9873313 NA 0.005278225 NA FALSE NA 1 3.795 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW DYTN HGNC 23279 ENST00000477734 3/4 1 NA CCT C,T 8.271e-06 2:206700147 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 missense_variant 7.329786 0.99023 0.95257 0.487112 0.9993595 0 2.804134e-15 FALSE 8.14876e-06 ENSE00002348383_008 ENSE00002348383 008 2 207564825 207564994 - 44 72 54 C T 207564879 4290 116 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTATTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700154 206700155 206700155 exon -11 0.8611111 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTATTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 408 382 0.9887793 0.9424209 0.9656001 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.007377746 -0.05084005 0.9894748 0.9873313 NA -0.02173115 NA FALSE NA 1 2.855 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/4 rs556265646&COSM229698 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACA C,T 4.136e-05 2:206700155 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 missense_variant 6.220487 0.98449 0.92411 0.487112 0.9965316 0 2.804134e-15 FALSE 4.48127e-05 ENSE00002348383_009 ENSE00002348383 009 2 207564825 207564994 - 44 72 54 G T 207564884 4291 111 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGAAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700159 206700160 206700160 exon -16 0.7916667 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGAAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 10 104 1 0.9984762 0.9992381 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 0.005215281 0.9894748 0.9873313 NA 0.01190685 NA FALSE NA 0.84 0.496 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/4 1 NA TGC G,T 8.272e-06 2:206700160 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 synonymous_variant 0.99908 0.95169 0.65547 0.487112 0.7950766 0 2.804134e-15 FALSE 4.07398e-06 ENSE00002348383_010 ENSE00002348383 010 2 207564825 207564994 - 44 72 54 G A 207564886 4292 109 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCTGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700161 206700162 206700162 exon -18 0.7638889 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCTGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 643 791 0.8235234 0.994599 0.9090612 0.9967689 0.9821808 0.9814016 0.993261 NA NA -0.1578782 0.001338041 0.9894748 0.9873313 NA -0.07827006 NA FALSE NA 0.794 3.996 NA NA NA DYTN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:206700162 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 missense_variant 7.072772 0.95681 0.88333 0.487112 0.9987833 0 2.804134e-15 FALSE 1.22214e-05 ENSE00002348383_012 ENSE00002348383 012 2 207564825 207564994 - 44 72 54 G T 207564887 4294 108 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACACGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700162 206700163 206700163 exon -19 0.75 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACACGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 114 46 0.9996384 1 0.9998192 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01823687 0.006739035 0.9894748 0.9873313 NA 0.01248795 NA FALSE NA 0 -2.284 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/4 1 NA GGG G,T 8.272e-06 2:206700163 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 synonymous_variant 0.947284 0.12422 0.01435 0.487112 0.8217019 0 2.804134e-15 FALSE 4.07368e-06 ENSE00002348383_013 ENSE00002348383 013 2 207564825 207564994 - 44 72 54 G C 207564888 4295 107 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCAGCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700163 206700164 206700164 exon -20 0.7361111 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCAGCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 83 84 0.9938939 1 0.996947 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01249236 0.006739035 0.9894748 0.9873313 NA 0.009615696 NA FALSE NA 0 0.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:206700164 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 missense_variant 4.559061 0.26762 0.13349 0.487112 0.9918961 0 2.804134e-15 FALSE 4.07362e-06 ENSE00002348383_014 ENSE00002348383 014 2 207564825 207564994 - 44 72 54 G T 207564888 4296 107 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCAACCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700163 206700164 206700164 exon -20 0.7361111 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCAACCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 1049 765 0.99736 0.9997434 0.9985517 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.0159584 0.006482403 0.9894748 0.9873313 NA 0.0112204 NA FALSE NA 0 0.084 NA NA NA DYTN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYTN NA NA NA ENSG00000232125 ENSE00003559190 missense_variant 4.664878 0.26338 0.11909 0.487112 0.9902323 0 2.804134e-15 FALSE 8.14724e-06 ENSE00002348383_016 ENSE00002348383 016 2 207564825 207564994 - 44 72 54 G A 207564891 4298 104 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGTCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700166 206700167 206700167 exon -23 0.6944444 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGTCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 45 2594 0.9931179 0.9897069 0.9914124 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01171635 -0.003554041 0.9894748 0.9873313 NA 0.004081155 NA FALSE NA 1 6.781 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/4 rs199745795 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0005 GGC G,A 0.0004467 2:206700167 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 missense_variant 7.001452 0.99026 0.97747 0.487112 0.9991471 0 2.804134e-15 FALSE 0.000537731 ENSE00002348383_019 ENSE00002348383 019 2 207564825 207564994 - 44 72 54 A C 207564900 4301 95 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGGGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700175 206700176 206700176 exon -32 0.5694444 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGGGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 464 328 1 0.99409 0.997045 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 0.0008289922 0.9894748 0.9873313 NA 0.009713708 NA FALSE NA 1 4.612 NA NA NA DYTN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:206700176 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 missense_variant 5.647747 0.98206 0.94576 0.487112 0.9970371 0 2.804134e-15 FALSE 0.000399088 ENSE00002348383_021 ENSE00002348383 021 2 207564825 207564994 - 44 72 54 C T 207564915 4303 80 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCATGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700190 206700191 206700191 exon 26 0.3611111 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCATGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 105 2306 1 0.9892906 0.9946453 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 -0.003970348 0.9894748 0.9873313 NA 0.007314037 NA FALSE NA 0.001 -0.083 rs141321104 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/4 rs141321104 1 T:0.0022 T:0.0083 T:0 NA T:0 T:0 T:0 T:0.0046 T:0 ACG C,T 0.0005377 2:206700191 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 missense_variant 2.299488 0.20888 0.03471 0.487112 0.8810647 0 2.804134e-15 FALSE 0.000423536 ENSE00002348383_022 ENSE00002348383 022 2 207564825 207564994 - 44 72 54 C T 207564920 4304 75 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAAAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700195 206700196 206700196 exon 21 0.2916667 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAAAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 1033 257 0.9169357 0.9906552 0.9537955 0.9967689 0.9821808 0.9814016 0.993261 NA NA -0.06446583 -0.002605725 0.9894748 0.9873313 NA -0.03353578 NA FALSE NA 0.999 0.785 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 3/4 1 NA TCT C,T 8.272e-06 2:206700196 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 synonymous_variant 1.885797 0.97143 0.49305 0.487112 0.8057872 0 2.804134e-15 FALSE 4.07193e-06 ENSE00002348383_027 ENSE00002348383 027 2 207564825 207564994 - 44 72 54 G C 207564947 4309 48 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTGTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700222 206700223 206700223 upstr_intron -7 -0.1111111 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTGTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 175 232 0.9978641 1 0.9989321 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01646253 0.006739035 0.9894748 0.9873313 NA 0.01160078 NA FALSE NA 0.84 -0.011 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DYTN HGNC 23279 ENST00000477734 2/3 1 NA AGA G,C 8.271e-06 2:206700223 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 splice_region_variant 1.468421 0.88504 0.57664 0.078958 0.8388729 0.341417 2.804134e-15 FALSE 1.22154e-05 ENSE00002348383_028 ENSE00002348383 028 2 207564825 207564994 - 44 72 54 G A 207564949 4310 46 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTTTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700224 206700225 206700225 upstr_intron -9 -0.1481481 GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTTTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 1518 430 0.9978322 1 0.9989161 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01643067 0.006739035 0.9894748 0.9873313 NA 0.01158485 NA FALSE NA 0.813 0.523 rs191225575 intron_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 2/3 rs191225575 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 AGA G,A 0.0001241 2:206700225 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 intron_variant 2.060316 0.94562 0.55113 0.078958 0.8680413 0.302205 2.804134e-15 FALSE 0.000150654 ENSE00002348383_031 ENSE00002348383 031 2 207564825 207564994 - 44 72 54 T C 207564969 4313 26 GAGACGACATATTTCTCCACTTTCTGACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700244 206700245 206700245 upstr_intron -29 -0.5185185 GAGACGACATATTTCTCCACTTTCTGACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 252 793 1 0.9983455 0.9991727 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 0.005084491 0.9894748 0.9873313 NA 0.01184146 NA FALSE NA 0 -0.476 . intron_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 2/3 1 NA TTA T,C 8.269e-06 2:206700245 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 intron_variant 1.236696 0.22197 0.0578 0.078958 0.724704 0.13589 2.804134e-15 FALSE 8.1493e-06 ENSE00002348383_032 ENSE00002348383 032 2 207564825 207564994 - 44 72 54 A G 207564970 4314 25 GAGACGACATATTTCTCCACTTTCCAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700245 206700246 206700246 upstr_intron -30 -0.537037 GAGACGACATATTTCTCCACTTTCCAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 143 54 1 1 1 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 0.006739035 0.9894748 0.9873313 NA 0.01266873 NA FALSE NA 0 -0.161 . intron_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 2/3 rs533191592 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAG A,G 2.481e-05 2:206700246 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 intron_variant 1.216005 0.21687 0.04834 0.078958 0.7416514 0.13589 2.804134e-15 FALSE 3.66757e-05 ENSE00002348383_033 ENSE00002348383 033 2 207564825 207564994 - 44 72 54 G A 207564978 4315 17 GAGACGACATATTTCTTCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 206700253 206700254 206700254 upstr_intron -38 -0.6851852 GAGACGACATATTTCTTCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT mutant NA NA NA NA NA 579 191 1 1 1 0.9967689 0.9821808 0.9814016 0.993261 NA NA 0.01859842 0.006739035 0.9894748 0.9873313 NA 0.01266873 NA FALSE NA 0.012 0.007 . intron_variant&non_coding_transcript_variant MODIFIER DYTN HGNC 23279 ENST00000477734 2/3 1 NA GGA G,A 1.654e-05 2:206700254 DYTN HGNC Symbol protein_coding 66775 ENSG00000232125 ENSE00003559190 intron_variant 0.844937 0.1931 0.05146 0.078958 0.8273203 0.0489367 2.804134e-15 FALSE 4.07581e-06 ENSE00002348383_BRK ENSE00002348383 BRK 2 207564825 207564994 - 44 72 54 A,G; T,T NA NA NA GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCTTATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGCCGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT 206700100 206700270 NA NA NA NA NA NA GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCTTATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGCCGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT GAGACGACATATTTCTCCACTTTCTAACAGCTAAGATGAGGTTGTCTCTTGCAGATCCCAACTTTCGTGGGAGAGAGTCGTGCTCTGTGCCCTGTGGAAAGTGCCACCCGCAGCTGTTTCCAAGGGGTGAGTGCCTTGCAAATGTCCCTGGAGTTGGGGACAGACACGGT control NA NA NA NA NA 391 51 0 0 0 0.9967689 0.9821808 0.9814016 0.993261 NA NA -0.9814016 -0.993261 0.9894748 0.9873313 NA -0.9873313 NA TRUE NA NA NA NA NA NA DYTN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYTN NA NA NA ENSG00000232125 ENSE00003559190 NA NA NA NA NA NA NA 2.804134e-15 FALSE NA ENSE00002348862_000 ENSE00002348862 000 12 121659662 121659831 + 54 72 44 NA NA NA NA NA GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 NA NA NA NA NA NA GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC natural 395 620 0.8444293 0.846419 0.8454242 1048 925 0.8338972 0.7673175 0.8006073 0.8444293 0.846419 0.8338972 0.7673175 0 0 0 0 0.8454242 0.8006073 0 0 0 FALSE FALSE NA NA NA NA NA P2RX4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P2RX4 NA NA NA ENSG00000135124 ENSE00003754335 NA NA NA NA NA NA NA 2.368007e-09 FALSE NA ENSE00002348862_001 ENSE00002348862 001 12 121659662 121659831 + 54 72 44 A T 121659673 3617 12 GGCTCTCCGTGTGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221869 121221870 121221870 upstr_intron -43 -0.7777778 GGCTCTCCGTGTGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 76 92 0.85 0.85 0.85 187 251 0.8 0.7920718 0.7960359 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 -0.03389718 0.02475433 0.8454242 0.8006073 0.004575816 -0.004571426 0.009147242 FALSE FALSE 0 -0.497 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA GAG A,T 8.236e-06 12:121221870 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.182912 0.09956 0.01076 0.156188 0.7501742 0.049018 2.368007e-09 FALSE 4.06372e-06 ENSE00002348862_002 ENSE00002348862 002 12 121659662 121659831 + 54 72 44 C T 121659684 3618 23 GGCTCTCCGTGAGTCCTCTGAGTGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221880 121221881 121221881 upstr_intron -32 -0.5740741 GGCTCTCCGTGAGTCCTCTGAGTGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 139 228 0.85 0.85 0.85 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 NA NA 0.8454242 0.8006073 0.004575816 NA NA NA FALSE 0 0.26 rs7298368 upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 rs7298368 1 T:0.2354 T:0.1172 T:0.2695 NA T:0.3224 T:0.1918 T:0.3262 T:0.1337 T:0.1701 GCG C,T 0.21 12:121221881 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.141338 0.21075 0.02545 0.295142 0.8356464 0.049018 2.368007e-09 FALSE 0.218483 ENSE00002348862_004 ENSE00002348862 004 12 121659662 121659831 + 54 72 44 C T 121659689 3620 28 GGCTCTCCGTGAGTCCTCTGAGCGTGGTTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221885 121221886 121221886 upstr_intron -27 -0.4814815 GGCTCTCCGTGAGTCCTCTGAGCGTGGTTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant NA NA NA NA NA 203 475 0.9511975 0.9560437 0.9536206 0.8444293 0.846419 0.8338972 0.7673175 NA NA 0.1173003 0.1887262 0.8454242 0.8006073 NA 0.1530133 NA FALSE NA 0 0.018 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121221886 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.161371 0.1539 0.01101 0.295142 0.594326 0.049018 2.368007e-09 FALSE 5.28133e-05 ENSE00002348862_005 ENSE00002348862 005 12 121659662 121659831 + 54 72 44 C G 121659689 3621 28 GGCTCTCCGTGAGTCCTCTGAGCGTGGGTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221885 121221886 121221886 upstr_intron -27 -0.4814815 GGCTCTCCGTGAGTCCTCTGAGCGTGGGTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 98 159 0.85 0.85 0.85 209 79 0.8053835 0.8955178 0.8504506 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 -0.02851369 0.1282003 0.8454242 0.8006073 0.004575816 0.04984329 0.04526747 FALSE FALSE 0 0.018 NA NA NA P2RX4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P2RX4 NA NA NA ENSG00000135124 ENSE00003754335 intron_variant 0.118761 0.18462 0.07136 0.295142 0.4347474 0.049018 2.368007e-09 FALSE 4.06256e-06 ENSE00002348862_006 ENSE00002348862 006 12 121659662 121659831 + 54 72 44 T C 121659690 3622 29 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAGGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221886 121221887 121221887 upstr_intron -26 -0.462963 GGCTCTCCGTGAGTCCTCTGAGCGTGGCCTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant NA NA NA NA NA 1122 841 0.8102912 0.8 0.8051456 0.8444293 0.846419 0.8338972 0.7673175 NA NA -0.02360598 0.03268251 0.8454242 0.8006073 NA 0.004538267 NA FALSE NA 0 -1.428 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 rs200741523 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 CTT T,C 3.295e-05 12:121221887 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant -0.035203 0.1476 0.02133 0.295142 0.3006742 0.049018 2.368007e-09 FALSE 3.24963e-05 ENSE00002348862_008 ENSE00002348862 008 12 121659662 121659831 + 54 72 44 C A 121659693 3624 32 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGTCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221889 121221890 121221890 upstr_intron -23 -0.4074074 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGACCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant NA NA NA NA NA 516 358 0.9683607 0.9935698 0.9809653 0.8444293 0.846419 0.8338972 0.7673175 NA NA 0.1344635 0.2262523 0.8454242 0.8006073 NA 0.1803579 NA FALSE NA 0 0.398 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA GCC C,A 8.236e-05 12:121221890 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.140999 0.12335 0.01242 0.295142 0.5713516 0.049018 2.368007e-09 FALSE 6.90496e-05 ENSE00002348862_011 ENSE00002348862 011 12 121659662 121659831 + 54 72 44 T C 121659700 3627 39 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACGGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221896 121221897 121221897 upstr_intron -16 -0.2777778 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCCGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant NA NA NA NA NA 94 1395 0.004094442 0.003635596 0.003865019 0.8444293 0.846419 0.8338972 0.7673175 NA NA -0.8298027 -0.7636819 0.8454242 0.8006073 NA -0.7967423 NA TRUE NA 0.011 1.934 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA CTG T,C 8.236e-06 12:121221897 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.117886 0.16755 0.04132 0.295142 0.699858 0.049018 2.368007e-09 FALSE 8.12196e-06 ENSE00002348862_012 ENSE00002348862 012 12 121659662 121659831 + 54 72 44 C T 121659733 3628 72 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTTGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221929 121221930 121221930 exon 18 0.25 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTTGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 99 86 0.01324078 0 0.00662039 287 91 0.001046854 0 0.0005234269 0.8444293 0.846419 0.8338972 0.7673175 -0.8311885 -0.846419 -0.8328503 -0.7673175 0.8454242 0.8006073 -0.8388038 -0.8000839 0.03871989 TRUE TRUE 0.862 0.442 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 rs371199627&COSM170500 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 TCG C,T 8.236e-06 12:121221930 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 missense_variant 2.205346 0.96309 0.45633 0.706298 0.9248031 0 2.368007e-09 FALSE 2.43641e-05 ENSE00002348862_013 ENSE00002348862 013 12 121659662 121659831 + 54 72 44 G A 121659734 3629 73 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGATGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221930 121221931 121221931 exon 19 0.2638889 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCATCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 63 90 0.85 0.85 0.85 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 NA NA 0.8454242 0.8006073 0.004575816 NA NA NA FALSE 0.857 0.237 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 rs375456486 1 NA A:0 A:0.0001 CGT G,A 4.942e-05 12:121221931 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 missense_variant 1.867382 0.96142 0.57825 0.706298 0.9574592 0 2.368007e-09 FALSE 8.52757e-05 ENSE00002348862_014 ENSE00002348862 014 12 121659662 121659831 + 54 72 44 T C 121659738 3630 77 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCGTGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221934 121221935 121221935 exon 23 0.3194444 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCACGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 26 22 0.85 0.85 0.85 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 NA NA 0.8454242 0.8006073 0.004575816 NA NA NA FALSE 1 7.096 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA ATG T,C 8.236e-06 12:121221935 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 stop_lost 5.119506 0.99006 0.99171 0.706298 0.7264782 0 2.368007e-09 FALSE 1.21821e-05 ENSE00002348862_015 ENSE00002348862 015 12 121659662 121659831 + 54 72 44 A G 121659744 3631 83 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAGCGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221940 121221941 121221941 exon 29 0.4027778 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAGCGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 142 195 0.85 0.85 0.85 249 725 0.9462248 0.9466009 0.9464129 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 0.1123276 0.1792834 0.8454242 0.8006073 0.004575816 0.1458055 0.1412297 FALSE FALSE 1 8.253 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 rs534005848 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAC A,G 8.236e-06 12:121221941 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 missense_variant 5.104342 0.99069 0.99478 0.706298 0.9987362 0 2.368007e-09 FALSE 4.06078e-06 ENSE00002348862_016 ENSE00002348862 016 12 121659662 121659831 + 54 72 44 C T 121659745 3632 84 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAATGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221941 121221942 121221942 exon 30 0.4166667 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAATGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant NA NA NA NA NA 196 409 0.009356409 0 0.004678204 0.8444293 0.846419 0.8338972 0.7673175 NA NA -0.8245408 -0.7673175 0.8454242 0.8006073 NA -0.7959291 NA TRUE NA 0.065 0.354 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA ACG C,T 2.471e-05 12:121221942 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 synonymous_variant 1.866011 0.95958 0.29178 0.706298 0.6605876 0 2.368007e-09 FALSE 2.03037e-05 ENSE00002348862_017 ENSE00002348862 017 12 121659662 121659831 + 54 72 44 G A 121659746 3633 85 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCATGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221942 121221943 121221943 exon 31 0.4305556 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACATGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 43 41 0.8371467 0.85 0.8435734 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 -0.007282586 0.003580964 NA NA 0.8454242 0.8006073 -0.001850811 NA NA NA FALSE 0.016 -0.616 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA CGT G,A 1.647e-05 12:121221943 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 missense_variant 1.370291 0.94859 0.03881 0.706298 0.2533468 0 2.368007e-09 FALSE 1.62431e-05 ENSE00002348862_018 ENSE00002348862 018 12 121659662 121659831 + 54 72 44 C T 121659754 3634 93 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTTACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221950 121221951 121221951 exon -34 0.5416667 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTTACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant NA NA NA NA NA 41 636 0 0 0 0.8444293 0.846419 0.8338972 0.7673175 NA NA -0.8338972 -0.7673175 0.8454242 0.8006073 NA -0.8006073 NA TRUE NA 0.735 0.042 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121221951 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 synonymous_variant 0.928171 0.34908 0.32181 0.706298 0.6379862 0 2.368007e-09 FALSE 0.000247714 ENSE00002348862_019 ENSE00002348862 019 12 121659662 121659831 + 54 72 44 C A 121659754 3635 93 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTTAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221950 121221951 121221951 exon -34 0.5416667 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTAACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant NA NA NA NA NA 425 418 0.01453558 0.0007659293 0.007650753 0.8444293 0.846419 0.8338972 0.7673175 NA NA -0.8193616 -0.7665516 0.8454242 0.8006073 NA -0.7929566 NA TRUE NA 0.735 0.042 NA NA NA P2RX4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P2RX4 NA NA NA ENSG00000135124 ENSE00003754335 synonymous_variant 1.166782 0.3556 0.34357 0.706298 0.6060969 0 2.368007e-09 FALSE 1.21826e-05 ENSE00002348862_021 ENSE00002348862 021 12 121659662 121659831 + 54 72 44 T A 121659759 3637 98 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCTTGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221955 121221956 121221956 exon -29 0.6111111 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCAAGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 94 155 0.85 0.85 0.85 346 38 0.8953056 0.8190915 0.8571986 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 0.06140847 0.05177405 0.8454242 0.8006073 0.004575816 0.05659126 0.05201544 FALSE FALSE 0.003 0.014 rs145334789 upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 rs145334789 1 NA A:0 A:0.0001 ATG T,A 1.647e-05 12:121221956 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 missense_variant 1.271659 0.2863 0.07749 0.706298 0.8905688 0 2.368007e-09 FALSE 8.12137e-06 ENSE00002348862_023 ENSE00002348862 023 12 121659662 121659831 + 54 72 44 C A 121659775 3639 114 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGTCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221971 121221972 121221972 exon -13 0.8333333 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGACTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 36 48 0.85 0.85 0.85 103 222 0.8 0.7910431 0.7955216 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 -0.03389718 0.02372562 0.8454242 0.8006073 0.004575816 -0.005085777 0.009661593 FALSE FALSE 0.264 0.648 rs140985555 upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA GCC C,A 8.236e-06 12:121221972 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 synonymous_variant 0.63382 0.26767 0.29806 0.706298 0.4258823 0 2.368007e-09 FALSE 4.06078e-06 ENSE00002348862_024 ENSE00002348862 024 12 121659662 121659831 + 54 72 44 T C 121659777 3640 116 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACGGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221973 121221974 121221974 exon -11 0.8611111 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCCGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 85 203 0.85 0.8445344 0.8472672 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 -0.00188465 NA NA 0.8454242 0.8006073 0.00184301 NA NA NA FALSE 0 -0.126 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA CTG T,C 8.236e-06 12:121221974 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 missense_variant -0.257385 0.22363 0.05797 0.706298 0.7768353 0 2.368007e-09 FALSE 4.06078e-06 ENSE00002348862_025 ENSE00002348862 025 12 121659662 121659831 + 54 72 44 T C 121659779 3641 118 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCGCAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221975 121221976 121221976 exon -9 0.8888889 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGCGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 43 61 0.85 0.85 0.85 189 677 0.9554394 0.9629625 0.9592009 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 0.1215422 0.195645 0.8454242 0.8006073 0.004575816 0.1585936 0.1540178 FALSE FALSE 1 7.052 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA GTG T,C 8.236e-06 12:121221976 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 missense_variant 4.260806 0.99019 0.99464 0.706298 0.9889639 0 2.368007e-09 FALSE 4.06078e-06 ENSE00002348862_026 ENSE00002348862 026 12 121659662 121659831 + 54 72 44 C T 121659784 3642 123 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCTGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221980 121221981 121221981 exon -4 0.9583333 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCTGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 98 87 0 0 0 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 -0.8444293 -0.846419 NA NA 0.8454242 0.8006073 -0.8454242 NA NA NA TRUE 0.001 -1.64 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA CCG C,T 8.236e-06 12:121221981 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 synonymous_variant 1.234417 0.57638 0.0212 0.706298 0.5438835 0 2.368007e-09 FALSE 1.62435e-05 ENSE00002348862_028 ENSE00002348862 028 12 121659662 121659831 + 54 72 44 G C 121659791 3644 130 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTACGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221987 121221988 121221988 downstr_intron 4 1.093023 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTACGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 76 87 0.85 0.85 0.85 994 552 0.6811591 0.800458 0.7408085 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 -0.1527381 0.03314048 0.8454242 0.8006073 0.004575816 -0.0597988 0.06437462 FALSE FALSE 1 1.374 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA AGG G,C 1.647e-05 12:121221988 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 splice_region_variant 0.291219 0.97503 0.85469 0.099367 0.6540798 0.380305 2.368007e-09 FALSE 8.12229e-06 ENSE00002348862_029 ENSE00002348862 029 12 121659662 121659831 + 54 72 44 C T 121659796 3645 135 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGTCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221992 121221993 121221993 downstr_intron 9 1.209302 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGTCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 146 158 0.8462366 0.85 0.8481183 572 295 0.8166648 0.7922555 0.8044601 0.8444293 0.846419 0.8338972 0.7673175 0.001807233 0.003580964 -0.01723242 0.02493801 0.8454242 0.8006073 0.002694098 0.003852797 0.001158699 FALSE FALSE 0 0.437 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121221993 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.221149 0.12261 0.00512 0.099367 0.5806668 0.171072 2.368007e-09 FALSE 4.06174e-06 ENSE00002348862_030 ENSE00002348862 030 12 121659662 121659831 + 54 72 44 C G 121659796 3646 135 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGGCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121221992 121221993 121221993 downstr_intron 9 1.209302 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGGCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 29 105 0.85 0.85 0.85 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 NA NA 0.8454242 0.8006073 0.004575816 NA NA NA FALSE 0 0.437 NA NA NA P2RX4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P2RX4 NA NA NA ENSG00000135124 ENSE00003754335 intron_variant 0.06932 0.21768 0.01424 0.099367 0.5376082 0.171072 2.368007e-09 FALSE 1.21852e-05 ENSE00002348862_031 ENSE00002348862 031 12 121659662 121659831 + 54 72 44 G A 121659801 3647 140 GGAGAGGGGTGTGGGGCCTGGGGCTCTTCCTGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221997 121221998 121221998 downstr_intron 14 1.325581 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCAGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 15 15 0.85 0.85 0.85 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 NA NA 0.8454242 0.8006073 0.004575816 NA NA NA FALSE 0 0.12 rs28360468 upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA CGG G,A 0.005123 12:121221998 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant -0.191145 0.12341 0.04723 0.099367 0.5930178 0.156508 2.368007e-09 FALSE 0.00542317 ENSE00002348862_032 ENSE00002348862 032 12 121659662 121659831 + 54 72 44 G A 121659803 3648 142 GGAGAGGGGTGTGGGGCCTGGGGCTCTTTCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121221999 121222000 121222000 downstr_intron 16 1.372093 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGAAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 11 16 0.85 0.85 0.85 251 227 0.8230804 0.8088312 0.8159558 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 -0.01081676 0.0415137 0.8454242 0.8006073 0.004575816 0.01534847 0.01077265 FALSE FALSE 0 0.004 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA GGA G,A 8.236e-06 12:121222000 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.267783 0.18915 0.0491 0.099367 0.5564842 0.156508 2.368007e-09 FALSE 8.12348e-06 ENSE00002348862_033 ENSE00002348862 033 12 121659662 121659831 + 54 72 44 A G 121659805 3649 144 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAGGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121222001 121222002 121222002 downstr_intron 18 1.418605 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAGGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 194 157 0.8471694 0.85 0.8485847 254 400 0.8 0.8083198 0.8041599 0.8444293 0.846419 0.8338972 0.7673175 0.0027401 0.003580964 -0.03389718 0.04100231 0.8454242 0.8006073 0.003160532 0.003552565 0.0003920332 FALSE FALSE 0 -0.475 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA AAG A,G 8.236e-06 12:121222002 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.32463 0.19724 0.04135 0.099367 0.4782434 0.2197 2.368007e-09 FALSE 4.062e-06 ENSE00002348862_034 ENSE00002348862 034 12 121659662 121659831 + 54 72 44 G C 121659808 3650 147 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGACCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121222004 121222005 121222005 downstr_intron 21 1.488372 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGACCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 10 37 0.85 0.85 0.85 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 NA NA 0.8454242 0.8006073 0.004575816 NA NA NA FALSE 0 0.493 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121222005 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.053176 0.23381 0.05119 0.099367 0.6969538 0.158006 2.368007e-09 FALSE 9.75023e-05 ENSE00002348862_035 ENSE00002348862 035 12 121659662 121659831 + 54 72 44 G A 121659808 3651 147 GGAGAGGGGTGTGGGGCCTGGGGTTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121222004 121222005 121222005 downstr_intron 21 1.488372 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAACCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 39 72 0.85 0.85 0.85 317 2542 0.8254469 0.8433648 0.8344058 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 -0.008450296 0.07604727 0.8454242 0.8006073 0.004575816 0.03379848 0.02922267 FALSE FALSE 0 0.493 NA NA NA P2RX4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P2RX4 NA NA NA ENSG00000135124 ENSE00003754335 intron_variant 0.42656 0.20328 0.07076 0.099367 0.8239945 0.158006 2.368007e-09 FALSE 1.21878e-05 ENSE00002348862_036 ENSE00002348862 036 12 121659662 121659831 + 54 72 44 C T 121659809 3652 148 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGTCCCAGGCCCCACACCCCTCTCC 121221858 121222028 121222005 121222006 121222006 downstr_intron 22 1.511628 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGTCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 14 23 0.85 0.85 0.85 415 35 0.8 0.8 0.8 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 -0.03389718 0.03268251 0.8454242 0.8006073 0.004575816 -0.0006073329 0.005183149 FALSE FALSE 0.001 0.088 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 rs201227392 1 NA GCC C,T 8.236e-06 12:121222006 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.473743 0.2244 0.04268 0.099367 0.78231 0.158006 2.368007e-09 FALSE 1.21877e-05 ENSE00002348862_037 ENSE00002348862 037 12 121659662 121659831 + 54 72 44 A C 121659813 3653 152 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCCGGCCCCACACCCCTCTCC 121221858 121222028 121222009 121222010 121222010 downstr_intron 26 1.604651 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCCGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 56 138 0.85 0.85 0.85 75 332 0.9331038 0.934949 0.9340264 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 0.09920659 0.1676315 0.8454242 0.8006073 0.004575816 0.1334191 0.1288432 FALSE FALSE 0 -1.523 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA CAG A,C 1.647e-05 12:121222010 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.323047 0.17046 0.03322 0.099367 0.7024999 0.158006 2.368007e-09 FALSE 1.62495e-05 ENSE00002348862_038 ENSE00002348862 038 12 121659662 121659831 + 54 72 44 G A 121659814 3654 153 GGAGAGGGGTGTGGGGCTTGGGGCTCTTCCCGGGGGCCTCCTACCTCGGGGCACAGGCCCTGTGTCTGGTTCATGGTGAGGATCACGTTGGTCATGACGAAGAGGGAGTTTTCCTCCTGCAGAGGGGAGACAGCACGGGCAAGCCACGCTCAGAGGACTCACGGAGAGCC 121221858 121222028 121222010 121222011 121222011 downstr_intron 27 1.627907 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAAGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 51 10 0.85 0.85 0.85 586 190 0.9440733 0.93855 0.9413117 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 0.1101761 0.1712325 0.8454242 0.8006073 0.004575816 0.1407043 0.1361285 FALSE FALSE 0.188 1.284 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 1 NA AGG G,A 8.236e-06 12:121222011 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.518505 0.21566 0.08363 0.099367 0.7800269 0.158006 2.368007e-09 FALSE 3.24971e-05 ENSE00002348862_039 ENSE00002348862 039 12 121659662 121659831 + 54 72 44 C T 121659816 3655 155 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGTCCCACACCCCTCTCC 121221858 121222028 121222012 121222013 121222013 downstr_intron 29 1.674419 GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGTCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC mutant 95 142 0.85 0.85 0.85 1336 548 0.7499098 0.8756399 0.8127749 0.8444293 0.846419 0.8338972 0.7673175 0.005570669 0.003580964 -0.08398742 0.1083225 0.8454242 0.8006073 0.004575816 0.01216752 0.007591702 FALSE FALSE 0.002 0.273 . upstream_gene_variant MODIFIER P2RX4 HGNC 8535 ENST00000397924 rs201830668 1 NA GCC C,T 8.236e-06 12:121222013 P2RX4 HGNC Symbol protein_coding 24249 ENSG00000135124 ENSE00003754335 intron_variant 0.619575 0.20633 0.09183 0.099367 0.790384 0.158006 2.368007e-09 FALSE 8.12519e-06 ENSE00002348862_BRK ENSE00002348862 BRK 12 121659662 121659831 + 54 72 44 A,G; T,T NA NA NA GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCTTGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGCCAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC 121221858 121222028 NA NA NA NA NA NA GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCTTGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGCCAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC GGCTCTCCGTGAGTCCTCTGAGCGTGGCTTGCCCGTGCTGTCTCCCCTCTGCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTGATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGGTAGGAGGCCCCCGGGAAGAGCCCCAGGCCCCACACCCCTCTCC control 47 68 0 0 0 NA NA NA NA NA 0.8444293 0.846419 0.8338972 0.7673175 -0.8444293 -0.846419 NA NA 0.8454242 0.8006073 -0.8454242 NA NA NA TRUE NA NA NA NA NA P2RX4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P2RX4 NA NA NA ENSG00000135124 ENSE00003754335 NA NA NA NA NA NA NA 2.368007e-09 FALSE NA ENSE00002349211_000 ENSE00002349211 000 1 204086194 204086363 + 56 69 45 NA NA NA NA NA CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCCGGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGAGGGAAAGAGTAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 NA NA NA NA NA NA CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG natural NA NA NA NA NA 127 394 0.9889577 0.9956197 0.9922887 NA NA 0.9889577 0.9956197 NA NA 0 0 NA 0.9922887 NA 0 NA FALSE NA NA NA NA NA NA SOX13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SOX13 NA NA NA ENSG00000143842 ENSE00003528629 NA NA NA NA NA NA NA 0.9640995 TRUE NA ENSE00002349211_005 ENSE00002349211 005 1 204086194 204086363 + 56 69 45 C T 204086222 4740 29 CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCCGGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGAGGGAAAGAGTAGGCAGAGGAGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117093 204117094 204117094 upstr_intron -28 -0.4821429 CTGGGCACCAGGGCTAATGTCCGTGACCTCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant NA NA NA NA NA 875 633 0.9969522 0.9984214 0.9976868 NA NA 0.9889577 0.9956197 NA NA 0.007994561 0.002801675 NA 0.9922887 NA 0.005398118 NA FALSE NA 0 0.616 . downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 1 NA CCC C,T 8.264e-06 1:204117094 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 intron_variant 0.813732 0.24745 0.11574 0.069865 0.7503352 0.132174 0.9640995 TRUE 4.07711e-06 ENSE00002349211_007 ENSE00002349211 007 1 204086194 204086363 + 56 69 45 C T 204086233 4742 40 CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCCGGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGAGGGAAAGAATAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117104 204117105 204117105 upstr_intron -17 -0.2857143 CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTATTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant NA NA NA NA NA 13 43 0.8484729 1 0.9242364 NA NA 0.9889577 0.9956197 NA NA -0.1404848 0.004380312 NA 0.9922887 NA -0.06805225 NA FALSE NA 0 0.303 . downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 rs374400095 1 NA T:0.0002 T:0 ACT C,T 2.479e-05 1:204117105 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 intron_variant 1.190618 0.29363 0.11483 0.069865 0.729056 0.262201 0.9640995 TRUE 2.43992e-05 ENSE00002349211_008 ENSE00002349211 008 1 204086194 204086363 + 56 69 45 C T 204086240 4743 47 CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCCGGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGAGAGAAAGAGTAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117111 204117112 204117112 upstr_intron -10 -0.1607143 CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCTCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant NA NA NA NA NA 23 49 1 1 1 NA NA 0.9889577 0.9956197 NA NA 0.01104231 0.004380312 NA 0.9922887 NA 0.007711313 NA FALSE NA 0 -0.234 . downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 1 NA CCC C,T 8.264e-06 1:204117112 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 intron_variant 1.534506 0.24344 0.08294 0.069865 0.768989 0.240461 0.9640995 TRUE 1.21949e-05 ENSE00002349211_009 ENSE00002349211 009 1 204086194 204086363 + 56 69 45 T A 204086242 4744 49 CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCCGGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGTGGGAAAGAGTAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117113 204117114 204117114 upstr_intron -8 -0.125 CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCACTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant 55 16 0.9116788 0.85 0.8808394 NA NA NA NA NA NA NA 0.9889577 0.9956197 NA NA NA NA NA 0.9922887 NA NA NA NA NA 0 -0.828 . downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 1 NA CTC T,A 8.264e-06 1:204117114 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 splice_region_variant 1.021378 0.23299 0.13193 0.069865 0.6712596 0.313383 0.9640995 TRUE 4.06408e-06 ENSE00002349211_011 ENSE00002349211 011 1 204086194 204086363 + 56 69 45 C G 204086246 4746 53 CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCCGGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGCGAGAGGGAAAGAGTAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117117 204117118 204117118 upstr_intron -4 -0.05357143 CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCGCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant NA NA NA NA NA 836 514 0.9999508 0.9950447 0.9974977 NA NA 0.9889577 0.9956197 NA NA 0.01099308 -0.0005749701 NA 0.9922887 NA 0.005209054 NA FALSE NA 0.02 -0.351 . downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 rs201557813 1 G:0.0004 G:0.0008 G:0.0014 NA G:0 G:0 G:0 G:0.0012 G:0 CCC C,G 0.0001653 1:204117118 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 splice_region_variant 1.424999 0.36988 0.16176 0.256867 0.761157 0.259279 0.9640995 TRUE 0.000150349 ENSE00002349211_014 ENSE00002349211 014 1 204086194 204086363 + 56 69 45 C T 204086300 4749 107 CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCCGGTTACCTGGATCTGCTGCTGAAGAAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGAGGGAAAGAGTAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117171 204117172 204117172 exon -19 0.7391304 CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTTCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant NA NA NA NA NA 130 58 1 1 1 NA NA 0.9889577 0.9956197 NA NA 0.01104231 0.004380312 NA 0.9922887 NA 0.007711313 NA FALSE NA 0.997 0.512 . downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 rs529973182 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 TCC C,T 0.0001322 1:204117172 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 synonymous_variant 2.213205 0.89638 0.67789 0.706548 0.748409 0 0.9640995 TRUE 0.00017467 ENSE00002349211_017 ENSE00002349211 017 1 204086194 204086363 + 56 69 45 C T 204086324 4752 131 CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCCAGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGAGGGAAAGAGTAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117195 204117196 204117196 downstr_intron 6 1.136364 CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACTGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant 10 10 1 1 1 NA NA NA NA NA NA NA 0.9889577 0.9956197 NA NA NA NA NA 0.9922887 NA NA NA NA NA 0 -4.39 rs144279050 downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 rs144279050 1 T:0.0232 T:0.0106 T:0.1052 NA T:0 T:0.0209 T:0.0082 T:0.0192 T:0.0293 CCG C,T 0.034 1:204117196 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 splice_region_variant 0.490467 0.17863 0.02268 0.115753 0.5792287 0.0945776 0.9640995 TRUE 0.0390168 ENSE00002349211_018 ENSE00002349211 018 1 204086194 204086363 + 56 69 45 G A 204086325 4753 132 CCCTCAACTGCCTCCTGTGCCTCTCCGGGTCTCCCCTCTGGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGAGGGAAAGAGTAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117196 204117197 204117197 downstr_intron 7 1.159091 CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCAGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant NA NA NA NA NA 27 20 1 1 1 NA NA 0.9889577 0.9956197 NA NA 0.01104231 0.004380312 NA 0.9922887 NA 0.007711313 NA FALSE NA 0 -0.671 . downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 rs563547329 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 3.306e-05 1:204117197 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 splice_region_variant -0.057075 0.15811 0.02523 0.099367 0.4201774 0.0526402 0.9640995 TRUE 1.2192e-05 ENSE00002349211_022 ENSE00002349211 022 1 204086194 204086363 + 56 69 45 G A 204086350 4757 157 CCCTCAACTGCCTTCTGTGCCTCTCCGGGTCTCCCCTCCGGTTACCTGGATCTGCTGCTGAAGGAGGTTGATCTTATGCTGCTGCTGAATCAGCTGCTGCTGCTGCTTTGCAATCTGGGAGAGGGAAAGAGTAGGCAGAGGGGGTCACGGACATTAGCCCTGGTGCCCAG 204117065 204117235 204117221 204117222 204117222 downstr_intron 32 1.727273 CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGAAGGCAGTTGAGGG CTGGGCACCAGGGCTAATGTCCGTGACCCCCTCTGCCTACTCTTTCCCTCTCCCAGATTGCAAAGCAGCAGCAGCAGCTGATTCAGCAGCAGCATAAGATCAACCTCCTTCAGCAGCAGATCCAGGTAACCGGAGGGGAGACCCGGAGAGGCACAGGAGGCAGTTGAGGG mutant NA NA NA NA NA 46 85 1 1 1 NA NA 0.9889577 0.9956197 NA NA 0.01104231 0.004380312 NA 0.9922887 NA 0.007711313 NA FALSE NA 0 -1.046 . downstream_gene_variant MODIFIER SOX13 HGNC 11192 ENST00000525442 1 NA GGA G,A 1.652e-05 1:204117222 SOX13 HGNC Symbol protein_coding 54628 ENSG00000143842 ENSE00003528629 intron_variant 0.130316 0.1721 0.04486 0.099367 0.5403002 0.0526402 0.9640995 TRUE 8.1477e-06 ENSE00002349453_000 ENSE00002349453 000 3 141688870 141689039 - 45 69 56 NA NA NA NA NA AGTGGAGAAACAGGGAAGGTAATGAAAACATCTCGGTATCTTTACCTGTAGGAGAAGTTCTTGCAGCTGGGCCCGCTTCTGCTTTATCCGTTCTATCCGCCTCTGCTTCTCTATCTTTAAAACATTGGTTACAAAATAATATGAACATAGGTAGACTATAAAATATCGTT 141970027 141970197 NA NA NA NA NA NA AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT natural NA NA NA NA NA 1133 979 0.9953086 0.9938981 0.9946033 NA NA 0.9953086 0.9938981 NA NA 0 0 NA 0.9946033 NA 0 NA FALSE NA NA NA NA NA NA TFDP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TFDP2 NA NA NA ENSG00000114126 ENSE00003774745 NA NA NA NA NA NA NA 0.9750876 TRUE NA ENSE00002349453_003 ENSE00002349453 003 3 141688870 141689039 - 45 69 56 G A 141688883 3250 157 AGTGGAGAAACAGAGAAGGTAATGAAAACATCTCGGTATCTTTACCTGTAGGAGAAGTTCTTGCAGCTGGGCCCGCTTCTGCTTTATCCGTTCTATCCGCCTCTGCTTCTCTATCTTTAAAACATTGGTTACAAAATAATATGAACATAGGTAGACTATAAAATATCGTT 141970027 141970197 141970040 141970041 141970041 downstr_intron 32 1.727273 AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCTCTGTTTCTCCACT AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT mutant NA NA NA NA NA 12 215 0.9869765 1 0.9934882 NA NA 0.9953086 0.9938981 NA NA -0.00833214 0.006101903 NA 0.9946033 NA -0.001115119 NA FALSE NA 0.004 0.269 rs192679928 intron_variant MODIFIER TFDP2 HGNC 11751 ENST00000479040 6/9 rs192679928 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0009 A:0 GGG G,A 8.251e-05 3:141970041 TFDP2 HGNC Symbol protein_coding 205116 ENSG00000114126 ENSE00003774745 intron_variant 0.471458 0.2069 0.09569 0.295142 0.7532724 0.0851235 0.9750876 TRUE 7.72364e-05 ENSE00002349453_005 ENSE00002349453 005 3 141688870 141689039 - 45 69 56 C T 141688903 3252 137 AGTGGAGAAACAGGGAAGGTAATGAAAACATCTTGGTATCTTTACCTGTAGGAGAAGTTCTTGCAGCTGGGCCCGCTTCTGCTTTATCCGTTCTATCCGCCTCTGCTTCTCTATCTTTAAAACATTGGTTACAAAATAATATGAACATAGGTAGACTATAAAATATCGTT 141970027 141970197 141970060 141970061 141970061 downstr_intron 12 1.272727 AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCAAGATGTTTTCATTACCTTCCCTGTTTCTCCACT AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT mutant NA NA NA NA NA 76 160 1 1 1 NA NA 0.9953086 0.9938981 NA NA 0.004691407 0.006101903 NA 0.9946033 NA 0.005396655 NA FALSE NA 0 -0.057 rs4683655 intron_variant MODIFIER TFDP2 HGNC 11751 ENST00000479040 6/9 rs4683655 1 T:0.0441 T:0.0053 T:0.0648 NA T:0.0496 T:0.0805 T:0.0389 T:0.0233 T:0.1059 TCG T,T 0.084 3:141970061 TFDP2 HGNC Symbol protein_coding 205116 ENSG00000114126 ENSE00003774745 intron_variant -0.101756 0.255 0.03328 0.156188 0.4336241 0.131784 0.9750876 TRUE 0.0829438 ENSE00002349453_008 ENSE00002349453 008 3 141688870 141689039 - 45 69 56 T C 141688912 3255 128 AGTGGAGAAACAGGGAAGGTAATGAAAACATCTCGGTATCTTCACCTGTAGGAGAAGTTCTTGCAGCTGGGCCCGCTTCTGCTTTATCCGTTCTATCCGCCTCTGCTTCTCTATCTTTAAAACATTGGTTACAAAATAATATGAACATAGGTAGACTATAAAATATCGTT 141970027 141970197 141970069 141970070 141970070 downstr_intron 3 1.068182 AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTGAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT mutant NA NA NA NA NA 46 278 0 0.1274695 0.06373473 NA NA 0.9953086 0.9938981 NA NA -0.9953086 -0.8664286 NA 0.9946033 NA -0.9308686 NA TRUE NA 1 3.693 . splice_region_variant&intron_variant LOW TFDP2 HGNC 11751 ENST00000479040 6/9 rs373427071 1 NA C:0.0007 C:0 TTA T,C 3.305e-05 3:141970070 TFDP2 HGNC Symbol protein_coding 205116 ENSG00000114126 ENSE00003774745 splice_region_variant 0.505705 0.97854 0.67962 0.295142 0.8252351 0.80499 0.9750876 TRUE 1.62563e-05 ENSE00002349453_010 ENSE00002349453 010 3 141688870 141689039 - 45 69 56 C T 141688942 3257 98 AGTGGAGAAACAGGGAAGGTAATGAAAACATCTCGGTATCTTTACCTGTAGGAGAAGTTCTTGCAGCTGGGCTCGCTTCTGCTTTATCCGTTCTATCCGCCTCTGCTTCTCTATCTTTAAAACATTGGTTACAAAATAATATGAACATAGGTAGACTATAAAATATCGTT 141970027 141970197 141970099 141970100 141970100 exon -28 0.6086957 AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGAGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT mutant NA NA NA NA NA 851 273 0.9945531 0.9822117 0.9883824 NA NA 0.9953086 0.9938981 NA NA -0.0007555161 -0.01168641 NA 0.9946033 NA -0.006220963 NA FALSE NA 0.968 0.247 . synonymous_variant LOW TFDP2 HGNC 11751 ENST00000479040 6/10 1 NA CCC C,T 8.269e-06 3:141970100 TFDP2 HGNC Symbol protein_coding 205116 ENSG00000114126 ENSE00003774745 synonymous_variant 1.136884 0.96861 0.64779 0.706548 0.3557535 0 0.9750876 TRUE 4.06464e-06 ENSE00002349453_014 ENSE00002349453 014 3 141688870 141689039 - 45 69 56 C G 141688972 3261 68 AGTGGAGAAACAGGGAAGGTAATGAAAACATCTCGGTATCTTTACCTGTAGGAGAAGTTCTTGCAGCTGGGCCCGCTTCTGCTTTATCCGTTCTATCCGCCTGTGCTTCTCTATCTTTAAAACATTGGTTACAAAATAATATGAACATAGGTAGACTATAAAATATCGTT 141970027 141970197 141970129 141970130 141970130 exon 12 0.173913 AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCACAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT AACGATATTTTATAGTCTACCTATGTTCATATTATTTTGTAACCAATGTTTTAAAGATAGAGAAGCAGAGGCGGATAGAACGGATAAAGCAGAAGCGGGCCCAGCTGCAAGAACTTCTCCTACAGGTAAAGATACCGAGATGTTTTCATTACCTTCCCTGTTTCTCCACT mutant NA NA NA NA NA 32 68 1 0.9994384 0.9997192 NA NA 0.9953086 0.9938981 NA NA 0.004691407 0.005540273 NA 0.9946033 NA 0.00511584 NA FALSE NA 0.998 0.579 . missense_variant MODERATE TFDP2 HGNC 11751 ENST00000479040 6/10 rs370703471 1 deleterious(0.01) probably_damaging(0.982) NA G:0.0003 G:0 TCT C,G 8.274e-06 3:141970130 TFDP2 HGNC Symbol protein_coding 205116 ENSG00000114126 ENSE00003774745 missense_variant 4.232781 0.96705 0.90526 0.706548 0.9953414 0 0.9750876 TRUE 4.06501e-06 ENSE00002349710_000 ENSE00002349710 000 5 179407085 179407254 - 44 72 54 NA NA NA NA NA TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 NA NA NA NA NA NA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA natural 78 73 0.9261068 0.9588473 0.9424771 3046 3302 0.9802436 0.9692219 0.9747328 0.9261068 0.9588473 0.9802436 0.9692219 0 0 0 0 0.9424771 0.9747328 0 0 0 FALSE FALSE NA NA NA NA NA RNF130 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF130 NA NA NA ENSG00000113269 ENSE00003598705 NA NA NA NA NA NA NA 0.8649352 FALSE NA ENSE00002349710_001 ENSE00002349710 001 5 179407085 179407254 - 44 72 54 C T 179407095 2570 160 TGCTGGATTATTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980094 179980095 179980095 downstr_intron 34 1.790698 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAATAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 513 358 1 0.999558 0.999779 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01975642 0.03033605 0.9424771 0.9747328 NA 0.02504623 NA FALSE NA 0 -1.093 . intron_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/3 1 NA ACT T,T 8.237e-06 5:179980095 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 intron_variant 0.210477 0.05199 0.00029 0.088506 0.7731186 0.0715842 0.8649352 FALSE 4.09232e-06 ENSE00002349710_002 ENSE00002349710 002 5 179407085 179407254 - 44 72 54 T C 179407099 2571 156 TGCTGGATTACTTTCACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980098 179980099 179980099 downstr_intron 30 1.697674 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTGAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 437 2079 1 0.9983166 0.9991583 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01975642 0.02909469 0.9424771 0.9747328 NA 0.02442556 NA FALSE NA 0.002 0.586 . intron_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/3 1 NA TTA T,C 8.237e-06 5:179980099 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 intron_variant 0.190173 0.12532 0.01345 0.088506 0.6305343 0.0977633 0.8649352 FALSE 8.17722e-06 ENSE00002349710_004 ENSE00002349710 004 5 179407085 179407254 - 44 72 54 G A 179407102 2573 153 TGCTGGATTACTTTTACAGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980101 179980102 179980102 downstr_intron 27 1.627907 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACTGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 557 539 1 0.9981428 0.9990714 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01975642 0.02892092 0.9424771 0.9747328 NA 0.02433867 NA FALSE NA 0 -0.263 . intron_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/3 rs373624205 1 NA A:0 A:0.0001 CGG G,A 0.00014 5:179980102 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 intron_variant 0.104483 0.04485 0.00041 0.088506 0.7295497 0.146646 0.8649352 FALSE 0.0001718 ENSE00002349710_006 ENSE00002349710 006 5 179407085 179407254 - 44 72 54 T C 179407124 2575 131 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACCGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980123 179980124 179980124 downstr_intron 5 1.116279 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACGGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 767 338 1 0.9157503 0.9578752 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01975642 -0.05347159 0.9424771 0.9747328 NA -0.01685758 NA FALSE NA 0.725 -0.061 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RNF130 HGNC 18280 ENST00000519708 1/3 1 NA CTG T,C 3.295e-05 5:179980124 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 splice_region_variant -0.587277 0.1819 0.11969 0.088506 0.3327711 0.241532 0.8649352 FALSE 1.625e-05 ENSE00002349710_007 ENSE00002349710 007 5 179407085 179407254 - 44 72 54 T C 179407133 2576 122 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGCCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980132 179980133 179980133 exon -5 0.9444444 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGGCAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 141 358 0.8018473 0.8015123 0.8016798 0.9261068 0.9588473 0.9802436 0.9692219 NA NA -0.1783963 -0.1677096 0.9424771 0.9747328 NA -0.173053 NA FALSE NA 1 7.132 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 1 NA GTC T,C 8.237e-06 5:179980133 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 missense_variant 3.08219 0.98196 0.95887 0.732398 0.9978645 0 0.8649352 FALSE 4.06171e-06 ENSE00002349710_008 ENSE00002349710 008 5 179407085 179407254 - 44 72 54 C T 179407136 2577 119 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCATCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980135 179980136 179980136 exon -8 0.9027778 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGATGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 309 162 1 1 1 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01975642 0.03077807 0.9424771 0.9747328 NA 0.02526725 NA FALSE NA 1 6.937 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 1 NA ACC C,T 8.237e-06 5:179980136 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 missense_variant 6.183018 0.9914 0.97079 0.732398 0.9977222 0 0.8649352 FALSE 4.06187e-06 ENSE00002349710_009 ENSE00002349710 009 5 179407085 179407254 - 44 72 54 T C 179407149 2578 106 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGCCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980148 179980149 179980149 exon -21 0.7222222 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGGCAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 357 361 0.8059534 0.936979 0.8714662 0.9261068 0.9588473 0.9802436 0.9692219 NA NA -0.1742902 -0.03224297 0.9424771 0.9747328 NA -0.1032666 NA FALSE NA 1 7.132 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 1 NA GTC T,C 8.237e-06 5:179980149 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 missense_variant 3.219056 0.98878 0.96805 0.732398 0.9938659 0 0.8649352 FALSE 8.12255e-06 ENSE00002349710_010 ENSE00002349710 010 5 179407085 179407254 - 44 72 54 G T 179407157 2579 98 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTTTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980156 179980157 179980157 exon -29 0.6111111 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGAAAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 26 393 0.8 0.995819 0.8979095 0.9261068 0.9588473 0.9802436 0.9692219 NA NA -0.1802436 0.02659708 0.9424771 0.9747328 NA -0.07682325 NA FALSE NA 1 5.609 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 1 NA TGT G,T 8.236e-06 5:179980157 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 missense_variant 2.958856 0.986 0.92203 0.732398 0.970205 0 0.8649352 FALSE 4.06134e-06 ENSE00002349710_011 ENSE00002349710 011 5 179407085 179407254 - 44 72 54 T C 179407158 2580 97 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGCCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980157 179980158 179980158 exon -30 0.5972222 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGGCAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 142 166 0.9241055 0.9593845 0.941745 0.9261068 0.9588473 0.9802436 0.9692219 NA NA -0.05613807 -0.009837456 0.9424771 0.9747328 NA -0.03298776 NA FALSE NA 1 3.54 rs72813783 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 rs72813783 1 C:0.0038 C:0.0015 C:0.0029 NA C:0 C:0.0139 C:0.001 C:0.002 C:0.0081 GTC T,C 0.008335 5:179980158 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 missense_variant 2.33132 0.98878 0.91983 0.732398 0.9946732 0 0.8649352 FALSE 0.00874029 ENSE00002349710_013 ENSE00002349710 013 5 179407085 179407254 - 44 72 54 T C 179407170 2582 85 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGACGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980169 179980170 179980170 exon 31 0.4305556 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCGTCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 44 317 1 1 1 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01975642 0.03077807 0.9424771 0.9747328 NA 0.02526725 NA FALSE NA 1 4.312 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 rs564510543 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 1.647e-05 5:179980170 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 missense_variant 2.233803 0.97611 0.9055 0.732398 0.980098 0 0.8649352 FALSE 8.12275e-06 ENSE00002349710_014 ENSE00002349710 014 5 179407085 179407254 - 44 72 54 T C 179407174 2583 81 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCCTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980173 179980174 179980174 exon 27 0.375 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAGGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 104 68 1 1 1 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01975642 0.03077807 0.9424771 0.9747328 NA 0.02526725 NA FALSE NA 1 3.257 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 1 NA CTT T,C 8.236e-06 5:179980174 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 synonymous_variant 0.832659 0.97551 0.85593 0.732398 0.6850536 0 0.8649352 FALSE 4.06128e-06 ENSE00002349710_017 ENSE00002349710 017 5 179407085 179407254 - 44 72 54 G A 179407192 2586 63 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCAAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980191 179980192 179980192 exon 9 0.125 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTTGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 234 1750 0.9984063 0.9887662 0.9935863 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01816276 0.01954425 0.9424771 0.9747328 NA 0.0188535 NA FALSE NA 0.998 0.552 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 rs550131791 1 A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 CGA G,A 0.0001071 5:179980192 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 synonymous_variant 1.292161 0.94334 0.22072 0.732398 0.7632319 0 0.8649352 FALSE 8.93568e-05 ENSE00002349710_018 ENSE00002349710 018 5 179407085 179407254 - 44 72 54 C T 179407196 2587 59 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGATGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980195 179980196 179980196 exon 5 0.06944444 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCATCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 259 62 0.9971043 0.9561699 0.9766371 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01686074 -0.01305207 0.9424771 0.9747328 NA 0.001904338 NA FALSE NA 1 4.176 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 rs564466939 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 3.295e-05 5:179980196 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 missense_variant 4.359537 0.98054 0.90644 0.732398 0.9940882 0 0.8649352 FALSE 1.6246e-05 ENSE00002349710_019 ENSE00002349710 019 5 179407085 179407254 - 44 72 54 G A 179407197 2588 58 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACAACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980196 179980197 179980197 exon 4 0.05555556 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTTGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 631 239 0.8021009 0.8491859 0.8256434 0.9261068 0.9588473 0.9802436 0.9692219 NA NA -0.1781427 -0.120036 0.9424771 0.9747328 NA -0.1490893 NA FALSE NA 1 8.75 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 rs370848810 1 NA A:0 A:0.0002 CGA G,A 4.118e-05 5:179980197 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 missense_variant 6.11986 0.99162 0.98216 0.732398 0.9986754 0 0.8649352 FALSE 2.4371e-05 ENSE00002349710_022 ENSE00002349710 022 5 179407085 179407254 - 44 72 54 A G 179407219 2591 36 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAGAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980218 179980219 179980219 upstr_intron -19 -0.3333333 ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTCTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 202 118 0.9899304 0.9993523 0.9946414 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.009686805 0.03013042 0.9424771 0.9747328 NA 0.01990861 NA FALSE NA 0.979 0.789 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 1 NA AAA A,G 1.647e-05 5:179980219 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 non_coding_transcript_exon_variant 1.866356 0.96269 0.81123 0.106106 0.7761563 0.5169 0.8649352 FALSE 8.12433e-06 ENSE00002349710_023 ENSE00002349710 023 5 179407085 179407254 - 44 72 54 A G 179407224 2592 31 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACGGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980223 179980224 179980224 upstr_intron -24 -0.4259259 ACGTCATTCAGAGATCTTACACTTAGTATCCGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 96 11 0.9662028 0.8 0.8831014 0.9261068 0.9588473 0.9802436 0.9692219 NA NA -0.01404083 -0.1692219 0.9424771 0.9747328 NA -0.09163138 NA FALSE NA 0.995 2.044 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 1 NA CAG A,G 1.647e-05 5:179980224 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 non_coding_transcript_exon_variant 1.873319 0.96082 0.75825 0.106106 0.6676708 0.520785 0.8649352 FALSE 8.12539e-06 ENSE00002349710_025 ENSE00002349710 025 5 179407085 179407254 - 44 72 54 A T 179407228 2594 27 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATTCTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980227 179980228 179980228 upstr_intron -28 -0.5 ACGTCATTCAGAGATCTTACACTTAGAATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 252 1253 0.9906574 0.9932569 0.9919571 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01041378 0.02403494 0.9424771 0.9747328 NA 0.01722436 NA FALSE NA 0.996 1.191 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 1 NA TAC A,T 8.237e-06 5:179980228 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 non_coding_transcript_exon_variant 0.694876 0.92896 0.8058 0.106106 0.7642958 0.271113 0.8649352 FALSE 4.06289e-06 ENSE00002349710_026 ENSE00002349710 026 5 179407085 179407254 - 44 72 54 C T 179407229 2595 26 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATATTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 179980228 179980229 179980229 upstr_intron -29 -0.5185185 ACGTCATTCAGAGATCTTACACTTAATATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 736 203 0.993866 1 0.996933 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01362238 0.03077807 0.9424771 0.9747328 NA 0.02220023 NA FALSE NA 1 2.626 rs28011 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 rs28011 1 C:0.2887 T:0.9629 T:0.6758 NA T:0.5198 T:0.7276 T:0.5767 T:0.9283 T:0.7372 ACT T,T 0.717 5:179980229 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 non_coding_transcript_exon_variant 0.82146 0.83367 0.0249 0.106106 0.7060476 0.34524 0.8649352 FALSE 0.706868 ENSE00002349710_027 ENSE00002349710 027 5 179407085 179407254 - 44 72 54 T G 179407243 2596 12 TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTACCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGCTATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCGCTGAATGACGT 179980084 179980254 179980242 179980243 179980243 upstr_intron -43 -0.7777778 ACGTCATTCAGCGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA mutant NA NA NA NA NA 200 241 1 0.9935938 0.9967969 0.9261068 0.9588473 0.9802436 0.9692219 NA NA 0.01975642 0.0243719 0.9424771 0.9747328 NA 0.02206416 NA FALSE NA 0 0.238 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RNF130 HGNC 18280 ENST00000519708 1/4 rs547229008 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CTC T,G 8.237e-06 5:179980243 RNF130 HGNC Symbol protein_coding 160467 ENSG00000113269 ENSE00003598705 non_coding_transcript_exon_variant 0.423207 0.24096 0.04271 0.106106 0.569394 0.158006 0.8649352 FALSE 4.0702e-06 ENSE00002349710_BRK ENSE00002349710 BRK 5 179407085 179407254 - 44 72 54 A,G; T,T NA NA NA TGCTGGATTACTTTTACGGTGCTGAAGTTGTTTCATGACTGTGGCTTGTCACCCTTCTTTACTGTCCTGGTTGTCAATTTACTGATGGCTTTCTTGGCTGCATCTCCGAGACGACGAAATGAAAATTGCAAATAAAAACAGATACTAAGTGTAAGATCTCTGAATGACGT 179980084 179980254 NA NA NA NA NA NA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATTTCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGCCACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA ACGTCATTCAGAGATCTTACACTTAGTATCTGTTTTTATTTGCAATTTTCATAGCGTCGTCTCGGAGATGCAGCCAAGAAAGCCATCAGTAAATTGACAACCAGGACAGTAAAGAAGGGTGACAAGGTACAGTCATGAAACAACTTCAGCACCGTAAAAGTAATCCAGCA control 38 14 0 0 0 NA NA NA NA NA 0.9261068 0.9588473 0.9802436 0.9692219 -0.9261068 -0.9588473 NA NA 0.9424771 0.9747328 -0.9424771 NA NA NA TRUE NA NA NA NA NA RNF130 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF130 NA NA NA ENSG00000113269 ENSE00003598705 NA NA NA NA NA NA NA 0.8649352 FALSE NA ENSE00002349859_000 ENSE00002349859 000 5 149301156 149301325 - 42 75 53 NA NA NA NA NA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 NA NA NA NA NA NA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA natural 51 101 0.9874875 0.9939311 0.9907093 7402 6639 0.9304356 0.9824167 0.9564262 0.9874875 0.9939311 0.9304356 0.9824167 0 0 0 0 0.9907093 0.9564262 0 0 0 FALSE FALSE NA NA NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003479230 NA NA NA NA NA NA NA 6.605086e-12 FALSE NA ENSE00002349859_001 ENSE00002349859 001 5 149301156 149301325 - 42 75 53 C A 149301170 1732 156 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATTATTTAATATATTCA 149921592 149921762 149921606 149921607 149921607 downstr_intron 28 1.682927 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATTATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1045 1726 0.9887555 0.9998863 0.9943209 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.0583199 0.01746955 0.9907093 0.9564262 NA 0.03789472 NA FALSE NA 0 -0.116 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 5/21 1 NA TCA C,A 8.236e-06 5:149921607 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 intron_variant 0.242545 0.25808 0.10252 0.074388 0.491048 0.0786148 6.605086e-12 FALSE 4.07037e-06 ENSE00002349859_002 ENSE00002349859 002 5 149301156 149301325 - 42 75 53 A G 149301171 1733 155 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTACGATTTAATATATTCA 149921592 149921762 149921607 149921608 149921608 downstr_intron 27 1.658537 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTACGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 715 1210 0.9568738 1 0.9784369 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.02643821 0.01758326 0.9907093 0.9564262 NA 0.02201074 NA FALSE NA 0 0.676 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 5/21 1 NA CAT A,G 8.236e-06 5:149921608 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 intron_variant 0.415627 0.45606 0.12304 0.074388 0.3364465 0.874618 6.605086e-12 FALSE 8.13564e-06 ENSE00002349859_003 ENSE00002349859 003 5 149301156 149301325 - 42 75 53 G A 149301176 1734 150 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTTAGTATGATTTAATATATTCA 149921592 149921762 149921612 149921613 149921613 downstr_intron 22 1.536585 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTTAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 292 2073 1 0.999167 0.9995835 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06956438 0.01675026 0.9907093 0.9564262 NA 0.04315732 NA FALSE NA 0 0.505 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 5/21 1 NA TGA G,A 8.236e-06 5:149921613 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 intron_variant 0.006708 0.25556 0.10516 0.074388 0.422626 0.131466 6.605086e-12 FALSE 4.06689e-06 ENSE00002349859_004 ENSE00002349859 004 5 149301156 149301325 - 42 75 53 G A 149301188 1735 138 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTTTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921624 149921625 149921625 downstr_intron 10 1.243902 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTTTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1229 667 0.9838625 0.9581377 0.9710001 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.05342684 -0.02427908 0.9907093 0.9564262 NA 0.01457388 NA FALSE NA 0.004 0.696 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 5/21 1 NA AGA G,A 2.471e-05 5:149921625 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 intron_variant 0.155014 0.30944 0.10835 0.074388 0.5367961 0.119913 6.605086e-12 FALSE 2.03107e-05 ENSE00002349859_005 ENSE00002349859 005 5 149301156 149301325 - 42 75 53 G C 149301190 1736 136 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTGTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921626 149921627 149921627 downstr_intron 8 1.195122 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTGTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 2025 1721 0.9386225 0.9999081 0.9692653 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.0081869 0.01749135 0.9907093 0.9564262 NA 0.01283913 NA FALSE NA 0.027 -0.114 . splice_region_variant&intron_variant LOW PDE6A HGNC 8785 ENST00000255266 5/21 1 NA AGA G,C 1.647e-05 5:149921627 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 splice_region_variant -0.161726 0.33395 0.11117 0.074388 0.5394792 0.119913 6.605086e-12 FALSE 2.43734e-05 ENSE00002349859_007 ENSE00002349859 007 5 149301156 149301325 - 42 75 53 G A 149301194 1738 132 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTATGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921630 149921631 149921631 downstr_intron 4 1.097561 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTATGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1066 2277 0.9909352 0.8063553 0.8986452 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06049958 -0.1760614 0.9907093 0.9564262 NA -0.05778093 NA FALSE NA 0 -1.555 rs12109444 splice_region_variant&intron_variant LOW PDE6A HGNC 8785 ENST00000255266 5/21 rs12109444 1 A:0.0032 A:0.0121 A:0 NA A:0 A:0 A:0 A:0.0107 A:0.0007 CGT G,A 0.001285 5:149921631 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 splice_region_variant 0.199326 0.55015 0.17424 0.074388 0.5861126 0.324712 6.605086e-12 FALSE 0.00123078 ENSE00002349859_008 ENSE00002349859 008 5 149301156 149301325 - 42 75 53 C T 149301206 1739 120 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGAATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921642 149921643 149921643 exon -9 0.8933333 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGAATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 728 1194 0.966296 0.9983441 0.98232 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.03586034 0.01592737 0.9907093 0.9564262 NA 0.02589385 NA FALSE NA 1 7.208 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 1 deleterious(0.03) benign(0.441) NA TCC C,T 1.647e-05 5:149921643 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 5.058553 0.97149 0.95753 0.487112 0.9992881 0 6.605086e-12 FALSE 1.21843e-05 ENSE00002349859_009 ENSE00002349859 009 5 149301156 149301325 - 42 75 53 C T 149301207 1740 119 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCAGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921643 149921644 149921644 exon -10 0.88 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCAGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 2267 711 0.9576049 0.9765721 0.9670885 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.02716931 -0.005844658 0.9907093 0.9564262 NA 0.01066233 NA FALSE NA 0 -3.407 NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149921644 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 synonymous_variant 1.297937 0.09512 0.02682 0.487112 0.6534074 0 6.605086e-12 FALSE 0.000125913 ENSE00002349859_012 ENSE00002349859 012 5 149301156 149301325 - 42 75 53 C T 149301213 1743 113 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGAACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921649 149921650 149921650 exon -16 0.8 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGAACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1115 769 0.998402 0.9971098 0.9977559 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.0679664 0.01469303 0.9907093 0.9564262 NA 0.04132971 NA FALSE NA 0.822 0.075 rs139553131 synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 5/22 rs139553131 1 T:0.0008 T:0.003 T:0 NA T:0 T:0 T:0 T:0.0039 T:0 TCC C,T 0.0004036 5:149921650 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 synonymous_variant 1.938971 0.91053 0.57291 0.487112 0.6491555 0 6.605086e-12 FALSE 0.000312723 ENSE00002349859_013 ENSE00002349859 013 5 149301156 149301325 - 42 75 53 T C 149301215 1744 111 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCGGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921651 149921652 149921652 exon -18 0.7733333 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCGGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 393 2170 1 0.8425505 0.9212752 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06956438 -0.1398663 0.9907093 0.9564262 NA -0.03515095 NA FALSE NA 1 3.769 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 rs369683948 1 deleterious(0.03) benign(0.062) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0007 C:0 CTG T,C 7.413e-05 5:149921652 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 3.311156 0.93132 0.84965 0.487112 0.998155 0 6.605086e-12 FALSE 6.09172e-05 ENSE00002349859_014 ENSE00002349859 014 5 149301156 149301325 - 42 75 53 G A 149301217 1745 109 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCTCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921653 149921654 149921654 exon -20 0.7466667 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCTCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 842 1279 1 0.9993812 0.9996906 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06956438 0.01696449 0.9907093 0.9564262 NA 0.04326444 NA FALSE NA 1 9.072 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 rs373695351 1 deleterious(0.03) possibly_damaging(0.565) NA A:0 A:0.0001 GGG G,A 2.471e-05 5:149921654 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 5.48627 0.97208 0.96918 0.487112 0.9987317 0 6.605086e-12 FALSE 1.62447e-05 ENSE00002349859_016 ENSE00002349859 016 5 149301156 149301325 - 42 75 53 C G 149301221 1747 105 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTCGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921657 149921658 149921658 exon -24 0.6933333 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTCGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1811 583 0.9423742 0.9991377 0.970756 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.01193861 0.016721 0.9907093 0.9564262 NA 0.01432981 NA FALSE NA 1 7.208 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 1 deleterious(0.03) probably_damaging(1) NA CCA C,G 8.236e-06 5:149921658 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 6.817211 0.97253 0.96428 0.487112 0.9994522 0 6.605086e-12 FALSE 4.06098e-06 ENSE00002349859_018 ENSE00002349859 018 5 149301156 149301325 - 42 75 53 A G 149301235 1749 91 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGCTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921671 149921672 149921672 exon -38 0.5066667 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGCTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 338 1789 0.9962891 0.9972496 0.9967693 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06585345 0.01483284 0.9907093 0.9564262 NA 0.04034314 NA FALSE NA 0.584 0.908 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 1 tolerated(1) benign(0.002) NA AAC A,G 8.236e-06 5:149921672 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant -0.103631 0.35802 0.25813 0.487112 0.6435316 0 6.605086e-12 FALSE 4.06075e-06 ENSE00002349859_019 ENSE00002349859 019 5 149301156 149301325 - 42 75 53 A T 149301244 1750 82 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGAAGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921680 149921681 149921681 exon 29 0.3866667 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGAAGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1219 254 0.8227395 1 0.9113698 0.9874875 0.9939311 0.9304356 0.9824167 NA NA -0.1076961 0.01758326 0.9907093 0.9564262 NA -0.04505641 NA FALSE NA 1 8.59 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 1 tolerated(0.13) probably_damaging(0.969) NA CAT A,T 8.236e-06 5:149921681 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 5.121677 0.96459 0.96766 0.487112 0.9865265 0 6.605086e-12 FALSE 8.12183e-06 ENSE00002349859_020 ENSE00002349859 020 5 149301156 149301325 - 42 75 53 T C 149301245 1751 81 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGGTGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921681 149921682 149921682 exon 28 0.3733333 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGGTGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 384 1980 0.9980548 0.8645419 0.9312984 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06761919 -0.1178748 0.9907093 0.9564262 NA -0.02512783 NA FALSE NA 0.98 2.883 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149921682 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 3.728187 0.94416 0.8764 0.487112 0.9917726 0 6.605086e-12 FALSE 2.43657e-05 ENSE00002349859_021 ENSE00002349859 021 5 149301156 149301325 - 42 75 53 T G 149301245 1752 81 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGCTGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921681 149921682 149921682 exon 28 0.3733333 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGCTGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 3690 910 0.9623624 0.9966834 0.9795229 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.03192678 0.0142667 0.9907093 0.9564262 NA 0.02309674 NA FALSE NA 0.98 2.883 NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003479230 missense_variant 3.372318 0.94108 0.85823 0.487112 0.9065984 0 6.605086e-12 FALSE 4.06095e-06 ENSE00002349859_022 ENSE00002349859 022 5 149301156 149301325 - 42 75 53 C T 149301246 1753 80 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTAATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921682 149921683 149921683 exon 27 0.36 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTAATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1041 1333 0.9986481 0.9978516 0.9982499 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06821247 0.0154349 0.9907093 0.9564262 NA 0.04182368 NA FALSE NA 0.356 0.078 . synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 5/22 1 NA TCA C,T 8.236e-06 5:149921683 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 synonymous_variant 1.219791 0.90594 0.63331 0.487112 0.8397112 0 6.605086e-12 FALSE 4.06108e-06 ENSE00002349859_023 ENSE00002349859 023 5 149301156 149301325 - 42 75 53 C T 149301252 1754 74 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCAGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921688 149921689 149921689 exon 21 0.28 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCAGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1564 1007 0.9985171 0.9965245 0.9975208 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06808147 0.01410777 0.9907093 0.9564262 NA 0.04109462 NA FALSE NA 0.046 -1.148 . synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 5/22 rs137853899 1 NA T:0 T:0.0001 CCG C,T 0.0002141 5:149921689 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 synonymous_variant 2.192574 0.84955 0.06716 0.487112 0.8604931 0 6.605086e-12 FALSE 0.000219309 ENSE00002349859_024 ENSE00002349859 024 5 149301156 149301325 - 42 75 53 G A 149301253 1755 73 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCTGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921689 149921690 149921690 exon 20 0.2666667 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCTGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1075 75 0.9568252 0.9978854 0.9773553 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.0263896 0.01546867 0.9907093 0.9564262 NA 0.02092913 NA FALSE NA 1 9.072 rs114973968 missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 rs114973968 1 deleterious(0.02) possibly_damaging(0.654) A:0.0018 A:0.0015 A:0 NA A:0.001 A:0.006 A:0 A:0.0011 A:0.0049 CGG G,A 0.002998 5:149921690 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 7.227869 0.96944 0.96732 0.487112 0.9980957 0 6.605086e-12 FALSE 0.00305817 ENSE00002349859_025 ENSE00002349859 025 5 149301156 149301325 - 42 75 53 C T 149301258 1756 68 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTATGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921694 149921695 149921695 exon 15 0.2 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTATGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 4703 890 0.9370298 0.9767212 0.9568755 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.006594134 -0.005695581 0.9907093 0.9564262 NA 0.0004492766 NA FALSE NA 0.002 -0.135 . synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 5/22 1 NA ACA C,T 8.236e-06 5:149921695 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 synonymous_variant 1.772705 0.88362 0.27475 0.487112 0.8600824 0 6.605086e-12 FALSE 4.06141e-06 ENSE00002349859_026 ENSE00002349859 026 5 149301156 149301325 - 42 75 53 C T 149301260 1757 66 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATATGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921696 149921697 149921697 exon 13 0.1733333 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATATGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 722 1451 0.9933538 0.9973792 0.9953665 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06291821 0.01496244 0.9907093 0.9564262 NA 0.03894032 NA FALSE NA 0.005 -0.002 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 1 tolerated(0.09) benign(0.01) NA ACA C,T 1.647e-05 5:149921697 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 3.287798 0.90442 0.3173 0.487112 0.9976371 0 6.605086e-12 FALSE 2.03077e-05 ENSE00002349859_027 ENSE00002349859 027 5 149301156 149301325 - 42 75 53 A C 149301261 1758 65 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGAGGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921697 149921698 149921698 exon 12 0.16 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGAGGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 2132 1586 0.9498492 0.9990763 0.9744627 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.01941357 0.01665955 0.9907093 0.9564262 NA 0.01803656 NA FALSE NA 0.061 0.319 rs140471904 missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 5/22 rs140471904 1 tolerated(0.07) benign(0.207) NA C:0.0009 C:0 CAT A,C 5.765e-05 5:149921698 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 missense_variant 2.494238 0.91817 0.47894 0.487112 0.9960289 0 6.605086e-12 FALSE 3.65524e-05 ENSE00002349859_028 ENSE00002349859 028 5 149301156 149301325 - 42 75 53 A G 149301275 1759 51 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCCAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921711 149921712 149921712 upstr_intron -3 -0.03773585 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCCAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 662 1507 0.9999378 0.9124996 0.9562187 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.0695022 -0.06991718 0.9907093 0.9564262 NA -0.0002074884 NA FALSE NA 0.93 0.457 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149921712 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 splice_region_variant 1.609449 0.89817 0.25548 0.084033 0.899984 0.46635 6.605086e-12 FALSE 4.06392e-06 ENSE00002349859_029 ENSE00002349859 029 5 149301156 149301325 - 42 75 53 A C 149301275 1760 51 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCGAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921711 149921712 149921712 upstr_intron -3 -0.03773585 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCGAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1743 1082 0.8002449 0.6522216 0.7262332 0.9874875 0.9939311 0.9304356 0.9824167 NA NA -0.1301908 -0.3301951 0.9907093 0.9564262 NA -0.2301929 NA FALSE NA 0.93 0.457 NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003479230 splice_region_variant 1.431072 0.91329 0.74903 0.084033 0.9078358 0.46635 6.605086e-12 FALSE 4.06392e-06 ENSE00002349859_030 ENSE00002349859 030 5 149301156 149301325 - 42 75 53 G A 149301277 1761 49 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTTCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921713 149921714 149921714 upstr_intron -5 -0.0754717 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTTCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 2347 573 0.9998772 1 0.9999386 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06944158 0.01758326 0.9907093 0.9564262 NA 0.04351242 NA FALSE NA 0.62 0.505 . splice_region_variant&intron_variant LOW PDE6A HGNC 8785 ENST00000255266 4/21 1 NA GGA G,A 8.236e-06 5:149921714 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 splice_region_variant 1.245797 0.35202 0.24496 0.084033 0.7785675 0.332627 6.605086e-12 FALSE 8.12968e-06 ENSE00002349859_031 ENSE00002349859 031 5 149301156 149301325 - 42 75 53 T G 149301280 1762 46 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCCTTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921716 149921717 149921717 upstr_intron -8 -0.1320755 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCCTTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 422 495 0.9966364 0.9996804 0.9981584 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06620077 0.01726363 0.9907093 0.9564262 NA 0.0417322 NA FALSE NA 0 -0.206 . splice_region_variant&intron_variant LOW PDE6A HGNC 8785 ENST00000255266 4/21 1 NA ATG T,G 1.647e-05 5:149921717 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 splice_region_variant 1.180165 0.23308 0.14338 0.084033 0.7383466 0.323828 6.605086e-12 FALSE 1.62628e-05 ENSE00002349859_032 ENSE00002349859 032 5 149301156 149301325 - 42 75 53 A G 149301285 1763 41 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTCTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921721 149921722 149921722 upstr_intron -13 -0.2264151 CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTCTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 32 1183 0.9381266 0.9989313 0.9685289 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.007690972 0.01651454 0.9907093 0.9564262 NA 0.01210276 NA FALSE NA 0 0.793 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 4/21 1 NA AAA A,G 8.236e-06 5:149921722 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 intron_variant 1.543288 0.33019 0.56409 0.084033 0.9157935 0.348051 6.605086e-12 FALSE 4.06865e-06 ENSE00002349859_033 ENSE00002349859 033 5 149301156 149301325 - 42 75 53 T C 149301305 1764 21 CCTTTCCTTGATCTCTTTTCGAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921741 149921742 149921742 upstr_intron -33 -0.6037736 CCTTTCCTTGATCTCTTTTCGAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 1341 178 0.9886895 0.9871469 0.9879182 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.05825385 0.004730112 0.9907093 0.9564262 NA 0.03149198 NA FALSE NA 0.869 2.086 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 4/21 1 NA TTG T,C 8.237e-06 5:149921742 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 intron_variant 1.037662 0.35042 0.64024 0.084033 0.8158268 0.344886 6.605086e-12 FALSE 4.13572e-06 ENSE00002349859_035 ENSE00002349859 035 5 149301156 149301325 - 42 75 53 A G 149301310 1766 16 CCTTTCCTTGATCTCCTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 149921746 149921747 149921747 upstr_intron -38 -0.6981132 CCTTTCCTTGATCTCCTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA mutant NA NA NA NA NA 465 1412 1 0.9988016 0.9994008 0.9874875 0.9939311 0.9304356 0.9824167 NA NA 0.06956438 0.01638488 0.9907093 0.9564262 NA 0.04297463 NA FALSE NA 0.022 1.119 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 4/21 1 NA AAG A,G 8.238e-06 5:149921747 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003479230 intron_variant -0.005301 0.20232 0.11128 0.084033 0.7550909 0.177374 6.605086e-12 FALSE NA ENSE00002349859_BRK ENSE00002349859 BRK 5 149301156 149301325 - 42 75 53 A,G; T,T NA NA NA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTTTGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGACCACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA 149921592 149921762 NA NA NA NA NA NA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTTTGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGACCACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA CCTTTCCTTGATCTCTTTTCAAAACATGTAATTATTGTTTTTCTCATTCCTAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCACCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGTACGTTCTCTCTGACCTTTTCAGTATGATTTAATATATTCA control 247 54 0 0 0 2206 1221 0 0.08361333 0.04180667 0.9874875 0.9939311 0.9304356 0.9824167 -0.9874875 -0.9939311 -0.9304356 -0.8988034 0.9907093 0.9564262 -0.9907093 -0.9146195 0.0760898 TRUE TRUE NA NA NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003479230 NA NA NA NA NA NA NA 6.605086e-12 FALSE NA ENSE00002350304_000 ENSE00002350304 000 5 149247246 149247415 - 42 75 53 NA NA NA NA NA GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 NA NA NA NA NA NA GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG natural 932 1069 0.8411275 0.839635 0.8403813 1438 1462 0.7615481 0.8342439 0.797896 0.8411275 0.839635 0.7615481 0.8342439 0 0 0 0 0.8403813 0.797896 0 0 0 FALSE FALSE NA NA NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003641404 NA NA NA NA NA NA NA 6.605086e-12 FALSE NA ENSE00002350304_003 ENSE00002350304 003 5 149247246 149247415 - 42 75 53 C T 149247266 1711 150 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAACCTGATGTTAGGTGTGTGTG 149867682 149867852 149867702 149867703 149867703 downstr_intron 22 1.536585 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAACCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 130 41 0.8191628 0.8 0.8095814 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.05761471 -0.03424385 0.8403813 0.797896 NA 0.01168543 NA FALSE NA 0.047 0.55 rs185667267 intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 19/21 rs185667267 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0002 T:0.0015 GCT C,T 0.0006671 5:149867703 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 non_coding_transcript_exon_variant 0.284049 0.19901 0.07376 0.053691 0.6829582 0.0937141 6.605086e-12 FALSE 0.000664352 ENSE00002350304_004 ENSE00002350304 004 5 149247246 149247415 - 42 75 53 C A 149247273 1712 143 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGTATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867709 149867710 149867710 downstr_intron 15 1.365854 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGTATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 573 108 0.8044901 0.8 0.8022451 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.04294203 -0.03424385 0.8403813 0.797896 NA 0.004349087 NA FALSE NA 0 1.029 NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149867710 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 non_coding_transcript_exon_variant 0.339687 0.21523 0.18523 0.053691 0.486138 0.0937141 6.605086e-12 FALSE 0.000122125 ENSE00002350304_006 ENSE00002350304 006 5 149247246 149247415 - 42 75 53 G A 149247292 1714 124 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCTCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867728 149867729 149867729 exon -5 0.9466667 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCTCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 362 299 0.8285744 0.8092151 0.8188947 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.06702628 -0.02502874 0.8403813 0.797896 NA 0.02099877 NA FALSE NA 1 9.013 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 19/22 1 deleterious(0) probably_damaging(0.999) NA GGG G,A 8.236e-06 5:149867729 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 missense_variant 6.874723 0.99419 0.99536 0.553676 0.9988663 0 6.605086e-12 FALSE 8.13372e-06 ENSE00002350304_011 ENSE00002350304 011 5 149247246 149247415 - 42 75 53 C G 149247313 1719 103 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCCCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867749 149867750 149867750 exon -26 0.6666667 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCCCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 36 16 0.9620419 1 0.981021 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.2004938 0.1657561 0.8403813 0.797896 NA 0.183125 NA FALSE NA 1 4.322 NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149867750 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 missense_variant 6.570686 0.99434 0.96699 0.487112 0.9966874 0 6.605086e-12 FALSE 4.06719e-06 ENSE00002350304_012 ENSE00002350304 012 5 149247246 149247415 - 42 75 53 G A 149247314 1720 102 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGTGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867750 149867751 149867751 exon -27 0.6533333 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGTGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 121 105 0.8021519 0.8027521 0.802452 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.04060379 -0.03149179 0.8403813 0.797896 NA 0.004556003 NA FALSE NA 1 5.1 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 19/22 rs577146307 1 deleterious(0) probably_damaging(0.998) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGC G,A 0.0001071 5:149867751 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 missense_variant 7.427266 0.98452 0.89973 0.487112 0.9992418 0 6.605086e-12 FALSE 5.28709e-05 ENSE00002350304_015 ENSE00002350304 015 5 149247246 149247415 - 42 75 53 A C 149247324 1723 92 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGGGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867760 149867761 149867761 exon -37 0.52 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGGGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 142 232 0.8079143 0.8 0.8039572 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.04636624 -0.03424385 0.8403813 0.797896 NA 0.006061196 NA FALSE NA 0.545 -0.328 rs145809648 synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 19/22 rs145809648 1 C:0.0004 C:0 C:0 NA C:0 C:0.002 C:0 CAC A,C 0.0003871 5:149867761 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 synonymous_variant -0.397124 0.94626 0.50093 0.487112 0.7746274 0 6.605086e-12 FALSE 0.000382316 ENSE00002350304_016 ENSE00002350304 016 5 149247246 149247415 - 42 75 53 C T 149247332 1724 84 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGAAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867768 149867769 149867769 exon 31 0.4133333 GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGAAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 117 23 0.8365587 0.8 0.8182794 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.07501067 -0.03424385 0.8403813 0.797896 NA 0.02038341 NA FALSE NA 1 7.123 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 19/22 1 deleterious(0) probably_damaging(0.992) NA TCC C,T 2.471e-05 5:149867769 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 missense_variant 7.631635 0.99405 0.9791 0.487112 0.9993266 0 6.605086e-12 FALSE 1.22063e-05 ENSE00002350304_019 ENSE00002350304 019 5 149247246 149247415 - 42 75 53 C T 149247387 1727 29 GGGGATTGGGCTGGGGCTCTGACTCTGCATGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867823 149867824 149867824 upstr_intron -25 -0.4528302 GGGGATTGGGCTGGGGCTCTGACTCTGCATGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 410 317 0.9830715 0.8 0.8915358 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.2215234 -0.03424385 0.8403813 0.797896 NA 0.09363979 NA FALSE NA 0 -0.166 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 18/21 rs576831457 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 1.647e-05 5:149867824 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 non_coding_transcript_exon_variant 0.16747 0.21524 0.06237 0.053691 0.7353996 0.174934 6.605086e-12 FALSE 2.88986e-05 ENSE00002350304_020 ENSE00002350304 020 5 149247246 149247415 - 42 75 53 G A 149247388 1728 28 GGGGATTGGGCTGGGGCTCTGACTCTGTGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867824 149867825 149867825 upstr_intron -26 -0.4716981 GGGGATTGGGCTGGGGCTCTGACTCTGTGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 508 295 0.9492437 0.9294633 0.9393535 0.8411275 0.839635 0.7615481 0.8342439 NA NA 0.1876956 0.09521946 0.8403813 0.797896 NA 0.1414575 NA FALSE NA 0 -1.732 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 18/21 rs374187180 1 NA A:0 A:0.0001 CGC G,A 8.236e-06 5:149867825 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 non_coding_transcript_exon_variant 0.276871 0.17295 0.00121 0.053691 0.7042272 0.174934 6.605086e-12 FALSE 2.48375e-05 ENSE00002350304_022 ENSE00002350304 022 5 149247246 149247415 - 42 75 53 A G 149247396 1730 20 GGGGATTGGGCTGGGGCTCCGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG 149867682 149867852 149867832 149867833 149867833 upstr_intron -34 -0.6226415 GGGGATTGGGCTGGGGCTCCGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG GGGGATTGGGCTGGGGCTCTGACTCTGCGTGTGTGAGGGTCTGTCTGTTGCAGGTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTGTGAGTAGACAGGGGATGTCAGCCTGATGTTAGGTGTGTGTG mutant NA NA NA NA NA 49 99 0.01008676 0 0.005043379 0.8411275 0.839635 0.7615481 0.8342439 NA NA -0.7514613 -0.8342439 0.8403813 0.797896 NA -0.7928526 NA TRUE NA 0 0.093 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 18/21 1 NA CAG A,G 1.647e-05 5:149867833 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003641404 non_coding_transcript_exon_variant 0.564093 0.19195 0.04389 0.053691 0.7856289 0.174934 6.605086e-12 FALSE 8.33049e-06 ENSE00002350434_000 ENSE00002350434 000 1 160519659 160519828 - 48 63 59 NA NA NA NA NA AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 NA NA NA NA NA NA AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC natural 28 156 0.9767933 0.8912381 0.9340157 1082 1312 0.7919497 0.9327981 0.8623739 0.9767933 0.8912381 0.7919497 0.9327981 0 0 0 0 0.9340157 0.8623739 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD84 NA NA NA ENSG00000066294 ENSE00003617959 NA NA NA NA NA NA NA 0.0003900566 FALSE NA ENSE00002350434_BRK ENSE00002350434 BRK 1 160519659 160519828 - 48 63 59 A,G; T,T NA NA NA AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACTTGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGCCAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 NA NA NA NA NA NA AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACTTGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGCCAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC control 18 14 0 0 0 NA NA NA NA NA 0.9767933 0.8912381 0.7919497 0.9327981 -0.9767933 -0.8912381 NA NA 0.9340157 0.8623739 -0.9340157 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD84 NA NA NA ENSG00000066294 ENSE00003617959 NA NA NA NA NA NA NA 0.0003900566 FALSE NA ENSE00002350538_000 ENSE00002350538 000 5 131307211 131307380 - 32 96 42 NA NA NA NA NA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 NA NA NA NA NA NA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA natural 28 29 0.9982584 0.9724472 0.9853528 2239 2866 0.8917031 0.8825407 0.8871219 0.9982584 0.9724472 0.8917031 0.8825407 0 0 0 0 0.9853528 0.8871219 0 0 0 FALSE FALSE NA NA NA NA NA AC034228.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSL6 NA NA NA ENSG00000164398 ENSE00003782699 NA NA NA NA NA NA NA 0.08856227 FALSE NA ENSE00002350538_BRK ENSE00002350538 BRK 5 131307211 131307380 - 32 96 42 A,G; T,T NA NA NA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACTTGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGCCATTGTCATTGTGTGTCCTCCCTTGGAAACA 131971517 131971687 NA NA NA NA NA NA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACTTGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGCCATTGTCATTGTGTGTCCTCCCTTGGAAACA TCAGACATCACAAAATTTGGCAGCTCTTCTTTCTTCCCACAGGCCAGTCTTGGTGGGTGTGTGCGGATGATTGTTACTGGAGCAGCCCCAGCATCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCCAGGTATTGTCATTGTGTGTCCTCCCTTGGAAACA control NA NA NA NA NA 910 190 0 0.001687958 0.000843979 0.9982584 0.9724472 0.8917031 0.8825407 NA NA -0.8917031 -0.8808527 0.9853528 0.8871219 NA -0.8862779 NA TRUE NA NA NA NA NA NA AC034228.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSL6 NA NA NA ENSG00000164398 ENSE00003782699 NA NA NA NA NA NA NA 0.08856227 FALSE NA ENSE00002350666_000 ENSE00002350666 000 17 40764037 40764206 + 56 69 45 NA NA NA NA NA AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 NA NA NA NA NA NA GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT natural 1269 2188 0.852579 0.8484771 0.850528 1275 453 0.9516991 0.9194977 0.9355984 0.852579 0.8484771 0.9516991 0.9194977 0 0 0 0 0.850528 0.9355984 0 0 0 FALSE FALSE NA NA NA NA NA TUBG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUBG1 NA NA NA ENSG00000131462 ENSE00002350666 NA NA NA NA NA NA NA 0.9759229 TRUE NA ENSE00002350666_001 ENSE00002350666 001 17 40764037 40764206 + 56 69 45 G A 40764055 1950 19 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAATCATGGGAGGTCTCTGACC 42612018 42612188 42612036 42612037 42612037 upstr_intron -38 -0.6607143 GGTCAGAGACCTCCCATGATTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 33 17 0.85 0.85 0.85 54 1450 0.95 0.9611477 0.9555739 0.852579 0.8484771 0.9516991 0.9194977 -0.002578971 0.00152294 -0.001699078 0.04165002 0.850528 0.9355984 -0.0005280153 0.01997547 0.02050349 FALSE FALSE 0.001 0.189 . intron_variant MODIFIER TUBG1 HGNC 12417 ENST00000251413 3/10 1 NA GGT G,A 3.295e-05 17:42612037 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 intron_variant 1.310396 0.20958 0.11182 0.256867 0.723792 0.116483 0.9759229 TRUE 2.44282e-05 ENSE00002350666_003 ENSE00002350666 003 17 40764037 40764206 + 56 69 45 C A 40764076 1952 40 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGTAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612057 42612058 42612058 upstr_intron -17 -0.2857143 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTACCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 114 151 0.85 0.85 0.85 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.002578971 0.00152294 NA NA 0.850528 0.9355984 -0.0005280153 NA NA NA FALSE 0 0.26 . intron_variant MODIFIER TUBG1 HGNC 12417 ENST00000251413 3/10 1 NA TCC C,A 8.237e-06 17:42612058 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 intron_variant 2.410996 0.33003 0.16461 0.283894 0.8211272 0.16167 0.9759229 TRUE 4.06283e-06 ENSE00002350666_006 ENSE00002350666 006 17 40764037 40764206 + 56 69 45 T C 40764082 1955 46 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACGTAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612063 42612064 42612064 upstr_intron -11 -0.1785714 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTACGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant NA NA NA NA NA 16 83 0 0.003879855 0.001939928 0.852579 0.8484771 0.9516991 0.9194977 NA NA -0.9516991 -0.9156178 0.850528 0.9355984 NA -0.9336585 NA TRUE NA 0.03 2.962 . intron_variant MODIFIER TUBG1 HGNC 12417 ENST00000251413 3/10 rs370411176 1 NA C:0.0002 C:0 ATG T,C 1.647e-05 17:42612064 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 intron_variant 2.440723 0.74521 0.53885 0.283894 0.9182991 0.172535 0.9759229 TRUE 1.21858e-05 ENSE00002350666_008 ENSE00002350666 008 17 40764037 40764206 + 56 69 45 A G 40764098 1957 62 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTCTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612079 42612080 42612080 exon 6 0.08695652 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAGAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 14 31 0.9751949 0.9245858 0.9498903 573 23 0.9999282 1 0.9999641 0.852579 0.8484771 0.9516991 0.9194977 0.1226159 0.07610874 0.04822908 0.08050231 0.850528 0.9355984 0.09936232 0.06436569 0.03499662 FALSE FALSE 0.998 0.703 . synonymous_variant LOW TUBG1 HGNC 12417 ENST00000251413 4/11 1 NA AAA A,G 2.471e-05 17:42612080 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 synonymous_variant -0.22161 0.96019 0.66985 0.706548 0.6649256 0 0.9759229 TRUE 1.21836e-05 ENSE00002350666_010 ENSE00002350666 010 17 40764037 40764206 + 56 69 45 G T 40764111 1959 75 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTACTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612092 42612093 42612093 exon 19 0.2753623 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGTACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 742 158 0 0.004121312 0.002060656 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.852579 -0.8443557 NA NA 0.850528 0.9355984 -0.8484674 NA NA NA TRUE 1 9.733 . missense_variant MODERATE TUBG1 HGNC 12417 ENST00000251413 4/11 COSM472827 1 deleterious(0.01) possibly_damaging(0.835) NA GGA G,T 8.236e-06 17:42612093 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 missense_variant 5.327529 0.99415 0.99524 0.706548 0.9897902 0 0.9759229 TRUE 4.06105e-06 ENSE00002350666_011 ENSE00002350666 011 17 40764037 40764206 + 56 69 45 C T 40764125 1960 89 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATAATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612106 42612107 42612107 exon 33 0.4782609 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATTATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 29 11 0 0 0 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.852579 -0.8484771 NA NA 0.850528 0.9355984 -0.850528 NA NA NA TRUE 0.99 0.205 . synonymous_variant LOW TUBG1 HGNC 12417 ENST00000251413 4/11 1 NA TCA C,T 8.236e-06 17:42612107 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 synonymous_variant 1.036277 0.97239 0.81473 0.706548 0.6270792 0 0.9759229 TRUE 1.21831e-05 ENSE00002350666_012 ENSE00002350666 012 17 40764037 40764206 + 56 69 45 C T 40764131 1961 95 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGATCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612112 42612113 42612113 exon -31 0.5652174 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGATCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 20 23 0.85 0.85 0.85 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.002578971 0.00152294 NA NA 0.850528 0.9355984 -0.0005280153 NA NA NA FALSE 0.995 0.474 . synonymous_variant LOW TUBG1 HGNC 12417 ENST00000251413 4/11 1 NA ACC C,T 3.295e-05 17:42612113 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 synonymous_variant 0.898126 0.97356 0.8457 0.706548 0.5349345 0 0.9759229 TRUE 2.03047e-05 ENSE00002350666_013 ENSE00002350666 013 17 40764037 40764206 + 56 69 45 C T 40764132 1962 96 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCAGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612113 42612114 42612114 exon -30 0.5797101 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACTGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 86 77 0.8306395 0.671648 0.7511437 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.02193947 -0.1768291 NA NA 0.850528 0.9355984 -0.09938428 NA NA NA FALSE 1 1.89 . missense_variant MODERATE TUBG1 HGNC 12417 ENST00000251413 4/11 1 deleterious(0) probably_damaging(0.991) NA CCG C,T 8.236e-06 17:42612114 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 missense_variant 5.874278 0.98148 0.93391 0.706548 0.9973692 0 0.9759229 TRUE 1.21835e-05 ENSE00002350666_014 ENSE00002350666 014 17 40764037 40764206 + 56 69 45 C T 40764171 1963 135 AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGAGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612152 42612153 42612153 downstr_intron 10 1.227273 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCTCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant NA NA NA NA NA 36 45 0.95 0.95 0.95 0.852579 0.8484771 0.9516991 0.9194977 NA NA -0.001699078 0.03050231 0.850528 0.9355984 NA 0.01440162 NA FALSE NA 0 -0.347 . intron_variant MODIFIER TUBG1 HGNC 12417 ENST00000251413 4/10 rs533901827 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCC C,T 8.236e-06 17:42612153 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 non_coding_transcript_exon_variant 1.713414 0.23586 0.02064 0.115753 0.7470604 0.19424 0.9759229 TRUE 4.0625e-06 ENSE00002350666_015 ENSE00002350666 015 17 40764037 40764206 + 56 69 45 A G 40764176 1964 140 AGCCTTGCCCATGTCGGCTCCTACCAGCATCCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612157 42612158 42612158 downstr_intron 15 1.340909 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGGATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 42 42 0.85 0.85 0.85 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.002578971 0.00152294 NA NA 0.850528 0.9355984 -0.0005280153 NA NA NA FALSE 0 0.504 . intron_variant MODIFIER TUBG1 HGNC 12417 ENST00000251413 4/10 1 NA GAA A,G 8.236e-06 17:42612158 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 non_coding_transcript_exon_variant 1.553238 0.20989 0.1146 0.156188 0.6890229 0.141929 0.9759229 TRUE 4.0626e-06 ENSE00002350666_016 ENSE00002350666 016 17 40764037 40764206 + 56 69 45 C T 40764191 1965 155 AGCCTTGCCCATGTCAGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612172 42612173 42612173 downstr_intron 30 1.681818 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCTGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 12 30 0.85 0.85 0.85 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.002578971 0.00152294 NA NA 0.850528 0.9355984 -0.0005280153 NA NA NA FALSE 0 -3.266 . intron_variant MODIFIER TUBG1 HGNC 12417 ENST00000251413 4/10 1 NA CCG C,T 3.295e-05 17:42612173 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 non_coding_transcript_exon_variant 0.313625 0.08305 0.00197 0.156188 0.7314107 0.0573335 0.9759229 TRUE 6.50444e-05 ENSE00002350666_018 ENSE00002350666 018 17 40764037 40764206 + 56 69 45 A G 40764195 1967 159 AGCCTTGCCCACGTCGGCTCCTACCAGCATTCCTGGGACACTTACCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCCTGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 42612176 42612177 42612177 downstr_intron 34 1.772727 GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACGTGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT mutant 28 15 0.85 0.85 0.85 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.002578971 0.00152294 NA NA 0.850528 0.9355984 -0.0005280153 NA NA NA FALSE 0 -0.136 rs112809304 intron_variant MODIFIER TUBG1 HGNC 12417 ENST00000251413 4/10 rs112809304 1 G:0.0144 G:0.0522 G:0.0043 NA G:0 G:0 G:0 G:0.0572 G:0.0001 CAT A,G 0.005403 17:42612177 TUBG1 HGNC Symbol protein_coding 5558 ENSG00000131462 ENSE00002350666 non_coding_transcript_exon_variant 0.223249 0.20416 0.11812 0.115753 0.5557605 0.0740004 0.9759229 TRUE 0.00417927 ENSE00002350666_BRK ENSE00002350666 BRK 17 40764037 40764206 + 56 69 45 A,G; T,T NA NA NA AGCCTTGCCCATGTCGGCTCCTACCAGCATTCCTGGGACACTTGGCTCTAGACTGTCACTACCATCTGCCTCCCGGTCTATGATGTCAAAAATGTCCTCATGGATCTTTTCTCCAAGTACAGACATAGGGGAGGGTCAGAGTGGGACAGAACCATGGGAGGTCTCTGACC 42612018 42612188 NA NA NA NA NA NA GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACTTGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGCCAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT GGTCAGAGACCTCCCATGGTTCTGTCCCACTCTGACCCTCCCCTATGTCTGTACAGGGAGAAAAGATCCATGAGGACATTTTTGACATCATAGACCGGGAGGCAGATGGTAGTGACAGTCTAGAGGTAAGTGTCCCAGGAATGCTGGTAGGAGCCGACATGGGCAAGGCT control 78 138 0 0 0 NA NA NA NA NA 0.852579 0.8484771 0.9516991 0.9194977 -0.852579 -0.8484771 NA NA 0.850528 0.9355984 -0.850528 NA NA NA TRUE NA NA NA NA NA TUBG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUBG1 NA NA NA ENSG00000131462 ENSE00002350666 NA NA NA NA NA NA NA 0.9759229 TRUE NA ENSE00002350961_000 ENSE00002350961 000 2 73285612 73285781 - 45 69 56 NA NA NA NA NA GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 NA NA NA NA NA NA GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT natural 32 31 1 0.9873121 0.993656 1873 1049 0.9441477 0.993194 0.9686708 1 0.9873121 0.9441477 0.993194 0 0 0 0 0.993656 0.9686708 0 0 0 FALSE FALSE NA NA NA NA NA SFXN5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN5 NA NA NA ENSG00000144040 ENSE00003663237 NA NA NA NA NA NA NA 0.01403045 FALSE NA ENSE00002350961_001 ENSE00002350961 001 2 73285612 73285781 - 45 69 56 A G 73285627 1709 155 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCCTGGGCCTTTGTACCT 73058482 73058652 73058497 73058498 73058498 downstr_intron 30 1.681818 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCCTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 147 938 0.9988748 0.9970663 0.9979706 1 0.9873121 0.9441477 0.993194 NA NA 0.05472705 0.003872373 0.993656 0.9686708 NA 0.02929971 NA FALSE NA 0.003 -0.059 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/6 1 NA AAG A,G 1.647e-05 2:73058498 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 non_coding_transcript_exon_variant 0.224147 0.07988 0.00065 0.106106 0.706926 0.0666035 0.01403045 FALSE 8.13213e-06 ENSE00002350961_002 ENSE00002350961 002 2 73285612 73285781 - 45 69 56 A C 73285633 1710 149 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGGGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058503 73058504 73058504 downstr_intron 24 1.545455 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGGGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 1654 800 0.9984975 0.9994271 0.9989623 1 0.9873121 0.9441477 0.993194 NA NA 0.05434978 0.006233133 0.993656 0.9686708 NA 0.03029146 NA FALSE NA 0 0.264 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/6 1 NA CAC A,C 8.236e-06 2:73058504 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 non_coding_transcript_exon_variant 1.581687 0.12728 0.0551 0.106106 0.8783469 0.23938 0.01403045 FALSE 4.06458e-06 ENSE00002350961_005 ENSE00002350961 005 2 73285612 73285781 - 45 69 56 C T 73285647 1713 135 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATAGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058517 73058518 73058518 downstr_intron 10 1.227273 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATAGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 22 24 1 1 1 1 0.9873121 0.9441477 0.993194 NA NA 0.05585229 0.006806036 0.993656 0.9686708 NA 0.03132916 NA FALSE NA 0 -0.309 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/6 rs200385059 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCA C,T 8.236e-06 2:73058518 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 non_coding_transcript_exon_variant 1.975114 0.13635 0.01056 0.163922 0.88314 0.239462 0.01403045 FALSE NA ENSE00002350961_009 ENSE00002350961 009 2 73285612 73285781 - 45 69 56 T G 73285672 1717 110 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACCCTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058542 73058543 73058543 exon -16 0.7826087 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACCCTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 996 379 0.998712 1 0.999356 1 0.9873121 0.9441477 0.993194 NA NA 0.05456432 0.006806036 0.993656 0.9686708 NA 0.03068518 NA FALSE NA 0 -3.625 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/7 1 NA GTG T,G 8.236e-06 2:73058543 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 synonymous_variant 0.87643 0.89583 0.04181 0.706298 0.7071754 0 0.01403045 FALSE 4.06398e-06 ENSE00002350961_013 ENSE00002350961 013 2 73285612 73285781 - 45 69 56 G A 73285681 1721 101 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGATCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058551 73058552 73058552 exon -25 0.6521739 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGATCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 1126 118 0.9926315 0.9986574 0.9956444 1 0.9873121 0.9441477 0.993194 NA NA 0.0484838 0.005463387 0.993656 0.9686708 NA 0.02697359 NA FALSE NA 0.998 0.545 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/7 1 NA GGT G,A 8.236e-06 2:73058552 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 synonymous_variant 0.739758 0.9383 0.55639 0.706298 0.64985 0 0.01403045 FALSE 1.21904e-05 ENSE00002350961_014 ENSE00002350961 014 2 73285612 73285781 - 45 69 56 C T 73285683 1722 99 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCAACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058553 73058554 73058554 exon -27 0.6231884 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCAACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 135 393 1 1 1 1 0.9873121 0.9441477 0.993194 NA NA 0.05585229 0.006806036 0.993656 0.9686708 NA 0.03132916 NA FALSE NA 0.996 5.118 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/7 1 NA TCG C,T 8.236e-06 2:73058554 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 missense_variant 6.992877 0.97344 0.91013 0.706298 0.9990069 0 0.01403045 FALSE 4.06372e-06 ENSE00002350961_016 ENSE00002350961 016 2 73285612 73285781 - 45 69 56 G T 73285684 1724 98 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATAGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058554 73058555 73058555 exon -28 0.6086957 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATAGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 818 261 0.9941057 0.9632055 0.9786556 1 0.9873121 0.9441477 0.993194 NA NA 0.04995802 -0.02998843 0.993656 0.9686708 NA 0.009984799 NA FALSE NA 0.001 -2.03 NA NA NA SFXN5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:73058555 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 synonymous_variant 1.409568 0.60666 0.06328 0.706298 0.7714816 0 0.01403045 FALSE 4.06369e-06 ENSE00002350961_019 ENSE00002350961 019 2 73285612 73285781 - 45 69 56 T A 73285704 1727 78 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCTGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058574 73058575 73058575 exon 22 0.3188406 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCTGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 15 70 1 1 1 1 0.9873121 0.9441477 0.993194 NA NA 0.05585229 0.006806036 0.993656 0.9686708 NA 0.03132916 NA FALSE NA 1 1.04 rs139303170 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 2/7 rs139303170 1 NA A:0 A:0.0001 CTG T,A 8.236e-06 2:73058575 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 missense_variant 6.757112 0.95668 0.74549 0.706298 0.9992282 0 0.01403045 FALSE NA ENSE00002350961_028 ENSE00002350961 028 2 73285612 73285781 - 45 69 56 G A 73285742 1736 40 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTTTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058612 73058613 73058613 upstr_intron -17 -0.2857143 GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTTTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 340 13 0.9945466 1 0.9972733 1 0.9873121 0.9441477 0.993194 NA NA 0.0503989 0.006806036 0.993656 0.9686708 NA 0.02860247 NA FALSE NA 0.001 0.458 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:73058613 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 intron_variant 0.799505 0.15823 0.04719 0.106106 0.8095878 0.11614 0.01403045 FALSE 2.84451e-05 ENSE00002350961_030 ENSE00002350961 030 2 73285612 73285781 - 45 69 56 T A 73285752 1738 30 GAGAAGGGTGTGCAGCAGCTGATCCATTCTCTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058622 73058623 73058623 upstr_intron -27 -0.4642857 GAGAAGGGTGTGCAGCAGCTGATCCATTCTCTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 270 19 1 0.9915835 0.9957918 1 0.9873121 0.9441477 0.993194 NA NA 0.05585229 -0.00161042 0.993656 0.9686708 NA 0.02712093 NA FALSE NA 0.001 -0.137 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:73058623 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 intron_variant 1.240965 0.12991 0.04038 0.162113 0.780841 0.11614 0.01403045 FALSE 0.273125 ENSE00002350961_031 ENSE00002350961 031 2 73285612 73285781 - 45 69 56 T C 73285752 1739 30 GAGAAGGGTGTGCAGCAGCTGATCCATTCGCTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058622 73058623 73058623 upstr_intron -27 -0.4642857 GAGAAGGGTGTGCAGCAGCTGATCCATTCGCTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 26 52 1 1 1 1 0.9873121 0.9441477 0.993194 NA NA 0.05585229 0.006806036 0.993656 0.9686708 NA 0.03132916 NA FALSE NA 0.001 -0.137 NA NA NA SFXN5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN5 NA NA NA ENSG00000144040 ENSE00003663237 intron_variant 0.78363 0.13153 0.04123 0.162113 0.6333133 0.11614 0.01403045 FALSE 4.07067e-05 ENSE00002350961_032 ENSE00002350961 032 2 73285612 73285781 - 45 69 56 T C 73285760 1740 22 GAGAAGGGTGTGCAGCAGCTGGTCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058630 73058631 73058631 upstr_intron -35 -0.6071429 GAGAAGGGTGTGCAGCAGCTGGTCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 19 112 1 1 1 1 0.9873121 0.9441477 0.993194 NA NA 0.05585229 0.006806036 0.993656 0.9686708 NA 0.03132916 NA FALSE NA 0.342 2.111 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 1/6 rs376024094 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 ATC T,C 5.765e-05 2:73058631 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 intron_variant 0.165722 0.17096 0.04677 0.162113 0.2530209 0.11614 0.01403045 FALSE 9.76332e-05 ENSE00002350961_034 ENSE00002350961 034 2 73285612 73285781 - 45 69 56 C G 73285770 1742 12 GAGAAGGGTGTCCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT 73058482 73058652 73058640 73058641 73058641 upstr_intron -45 -0.7857143 GAGAAGGGTGTCCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT GAGAAGGGTGTGCAGCAGCTGATCCATTCACTCTTCTCTCTCATCCTCTTCTTCAGACGTCCTTCTATGGCCGCTTCAGGCACTTCTTGGATATCATCGACCCTCGCACACTCTTTGTCACTGAGGTAAGTCATGGCTGTCACCTCAGTGGCCCTTGGGCCTTTGTACCT mutant NA NA NA NA NA 215 13 1 1 1 1 0.9873121 0.9441477 0.993194 NA NA 0.05585229 0.006806036 0.993656 0.9686708 NA 0.03132916 NA FALSE NA 0 -0.561 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 1/6 rs370292865 1 NA G:0.0002 G:0.0002 GCA C,G 0.0002389 2:73058641 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003663237 intron_variant -0.326254 0.1147 0.01892 0.106106 0.4454446 0.0666035 0.01403045 FALSE 0.000236601 ENSE00002351279_000 ENSE00002351279 000 3 184742061 184742230 + 63 54 53 NA NA NA NA NA GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 NA NA NA NA NA NA GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT natural NA NA NA NA NA 2552 1212 0.9892821 0.8848102 0.9370461 NA NA 0.9892821 0.8848102 NA NA 0 0 NA 0.9370461 NA 0 NA FALSE NA NA NA NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS8 NA NA NA ENSG00000156931 ENSE00003550416 NA NA NA NA NA NA NA 3.618198e-06 FALSE NA ENSE00002351279_002 ENSE00002351279 002 3 184742061 184742230 + 63 54 53 A T 184742090 3932 30 GTGGGTCAGACAAAACTAGACTATAACTGTAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 185024301 185024302 185024302 upstr_intron -34 -0.5238095 GTGGGTCAGACAAAACTAGACTATAACTGTAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 241 65 1 0.9537202 0.9768601 NA NA 0.9892821 0.8848102 NA NA 0.01071793 0.06891003 NA 0.9370461 NA 0.03981398 NA FALSE NA 0.043 3.822 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 24/26 rs540214976 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GAA A,T 5.885e-05 3:185024302 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 intron_variant 0.82431 0.28161 0.39151 0.162113 0.7171703 0.0957804 3.618198e-06 FALSE 4.71943e-05 ENSE00002351279_003 ENSE00002351279 003 3 184742061 184742230 + 63 54 53 G A 184742093 3933 33 GTGGGTCAGACAAAACTAGACTATAACTGAAAAGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 185024304 185024305 185024305 upstr_intron -31 -0.4761905 GTGGGTCAGACAAAACTAGACTATAACTGAAAAGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 57 1705 0.9477514 0.9995135 0.9736325 NA NA 0.9892821 0.8848102 NA NA -0.04153066 0.1147033 NA 0.9370461 NA 0.03658633 NA FALSE NA 0 -0.56 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 24/26 rs187637618 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 A:0.0006 A:0 AGG G,A 6.711e-05 3:185024305 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 intron_variant 0.762461 0.15025 0.01396 0.162113 0.5800881 0.0957804 3.618198e-06 FALSE 3.46572e-05 ENSE00002351279_004 ENSE00002351279 004 3 184742061 184742230 + 63 54 53 C G 184742120 3934 60 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTGCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 185024331 185024332 185024332 upstr_intron -4 -0.04761905 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTGCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 164 591 0.9953937 0.9907907 0.9930922 NA NA 0.9892821 0.8848102 NA NA 0.006111658 0.1059805 NA 0.9370461 NA 0.0560461 NA FALSE NA 0 -0.551 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW VPS8 HGNC 29122 ENST00000492449 24/26 1 NA TCC C,G 8.302e-06 3:185024332 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 splice_region_variant 0.6042 0.28026 0.03829 0.162113 0.5592068 0.149724 3.618198e-06 FALSE NA ENSE00002351279_006 ENSE00002351279 006 3 184742061 184742230 + 63 54 53 C G 184742136 3936 76 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTGCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 185024347 185024348 185024348 exon 13 0.2407407 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTGCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 59 116 1 1 1 NA NA 0.9892821 0.8848102 NA NA 0.01071793 0.1151898 NA 0.9370461 NA 0.06295386 NA FALSE NA 0.986 3.457 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/27 rs200853280 1 G:0.0016 G:0.0061 G:0 NA G:0 G:0 G:0 G:0.0038 G:0 TCC C,G 0.0002321 3:185024348 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 missense_variant 0.648972 0.98114 0.90477 0.706298 0.8830482 0 3.618198e-06 FALSE NA ENSE00002351279_007 ENSE00002351279 007 3 184742061 184742230 + 63 54 53 G A 184742141 3937 81 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCATATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 185024352 185024353 185024353 exon 18 0.3333333 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCATATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 76 256 1 0.9974321 0.998716 NA NA 0.9892821 0.8848102 NA NA 0.01071793 0.1126219 NA 0.9370461 NA 0.0616699 NA FALSE NA 0.004 -1.581 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/27 1 NA CGT G,A 9.12e-05 3:185024353 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 synonymous_variant 0.6575 0.18 0.00686 0.706298 0.3358299 0 3.618198e-06 FALSE 0.000162635 ENSE00002351279_008 ENSE00002351279 008 3 184742061 184742230 + 63 54 53 A C 184742146 3938 86 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCCTCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 185024357 185024358 185024358 exon 23 0.4259259 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCCTCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 75 150 1 0.9116915 0.9558457 NA NA 0.9892821 0.8848102 NA NA 0.01071793 0.02688127 NA 0.9370461 NA 0.0187996 NA FALSE NA 0.023 0.669 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/27 1 NA CAT A,C 8.289e-06 3:185024358 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 missense_variant -0.131248 0.20821 0.03476 0.706298 0.3622033 0 3.618198e-06 FALSE 4.47604e-06 ENSE00002351279_009 ENSE00002351279 009 3 184742061 184742230 + 63 54 53 A G 184742161 3939 101 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGGTCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 185024372 185024373 185024373 exon -17 0.7037037 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGGTCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 49 140 1 1 1 NA NA 0.9892821 0.8848102 NA NA 0.01071793 0.1151898 NA 0.9370461 NA 0.06295386 NA FALSE NA 0.989 4.135 rs111578837 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/27 rs111578837 1 NA G:0.0003 G:0.0015 GAT A,G 0.0004145 3:185024373 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 missense_variant 1.609526 0.95204 0.90045 0.706298 0.9768863 0 3.618198e-06 FALSE 0.000511605 ENSE00002351279_010 ENSE00002351279 010 3 184742061 184742230 + 63 54 53 C T 184742164 3940 104 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCTCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 185024375 185024376 185024376 exon -14 0.7592593 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCTCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 597 362 0.9995165 1 0.9997582 NA NA 0.9892821 0.8848102 NA NA 0.01023439 0.1151898 NA 0.9370461 NA 0.0627121 NA FALSE NA 0.001 -0.002 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/27 1 NA CCC C,T 8.291e-06 3:185024376 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 missense_variant 0.72019 0.44815 0.04021 0.706298 0.3344959 0 3.618198e-06 FALSE NA ENSE00002351279_012 ENSE00002351279 012 3 184742061 184742230 + 63 54 53 C T 184742212 3942 152 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTTCTTCTGTATGTTTATTCT 185024272 185024442 185024423 185024424 185024424 downstr_intron 35 1.673077 GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTTCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT mutant NA NA NA NA NA 279 401 1 1 1 NA NA 0.9892821 0.8848102 NA NA 0.01071793 0.1151898 NA 0.9370461 NA 0.06295386 NA FALSE NA 0 -0.258 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/26 1 NA TCC C,T 0.0002847 3:185024424 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003550416 intron_variant 0.183375 0.22459 0.05867 0.053691 0.6171167 0.104326 3.618198e-06 FALSE 0.000426692 ENSE00002351279_BRK ENSE00002351279 BRK 3 184742061 184742230 + 63 54 53 A,G; T,T NA NA NA GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCTTGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGCCGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT 185024272 185024442 NA NA NA NA NA NA GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCTTGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGCCGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT GTGGGTCAGACAAAACTAGACTATAACTGAAAGGGTATTAAAATGTTTGCCTTTTTTTTCCAGGTAAAAATGTCTCCATCGTATCATCAGTCCAAAGGGGATCCCACTGCTAAAAAGGTGAGTTTGTTTTAAAGGCAAAAAACCAGTTCTTCCTTCTGTATGTTTATTCT control NA NA NA NA NA 146 176 0 0 0 NA NA 0.9892821 0.8848102 NA NA -0.9892821 -0.8848102 NA 0.9370461 NA -0.9370461 NA TRUE NA NA NA NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS8 NA NA NA ENSG00000156931 ENSE00003550416 NA NA NA NA NA NA NA 3.618198e-06 FALSE NA ENSE00002351334_000 ENSE00002351334 000 21 47319435 47319604 + 78 24 68 NA NA NA NA NA TTCGGTAGTGTCTGCCTCCAGTGTTTTCCTCCTCCTGCTCTATGACATCATCTTTCTGTGATTTTTTTTTTCTTGCAGGAAGTTGGAAGCATCATCGGGAAGGTAATTATTGATTGAATCTCTGCCTCTCCTGGGGTCTCTGTAAGGGGATGGTGAGGATGGCAGCCTCC 45899520 45899690 NA NA NA NA NA NA TTCGGTAGTGTCTGCCTCCAGTGTTTTCCTCCTCCTGCTCTATGACATCATCTTTCTGTGATTTTTTTTTTCTTGCAGGAAGTTGGAAGCATCATCGGGAAGGTAATTATTGATTGAATCTCTGCCTCTCCTGGGGTCTCTGTAAGGGGATGGTGAGGATGGCAGCCTCC TTCGGTAGTGTCTGCCTCCAGTGTTTTCCTCCTCCTGCTCTATGACATCATCTTTCTGTGATTTTTTTTTTCTTGCAGGAAGTTGGAAGCATCATCGGGAAGGTAATTATTGATTGAATCTCTGCCTCTCCTGGGGTCTCTGTAAGGGGATGGTGAGGATGGCAGCCTCC natural NA NA NA NA NA 78 24 0.9611626 0.8593072 0.9102349 NA NA 0.9611626 0.8593072 NA NA 0 0 NA 0.9102349 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003639940 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00002351641_000 ENSE00002351641 000 17 72738324 72738493 + 69 42 59 NA NA NA NA NA CAGGACGTCTGCAGAGCTGAGGAGCCACATGACTCCTGCCCTCCCATCCTCTGCCTTTTTCTCTTTCAGAACAAGGTGGTGACTGTGGATGGCGTGAGAGTGAAGCTGCAGGTGAGACCAGAGGCTGGAGTTGGGGAGGGAGGATGGAGGACCTGCCCTTCCTTCTCACC 74742184 74742354 NA NA NA NA NA NA CAGGACGTCTGCAGAGCTGAGGAGCCACATGACTCCTGCCCTCCCATCCTCTGCCTTTTTCTCTTTCAGAACAAGGTGGTGACTGTGGATGGCGTGAGAGTGAAGCTGCAGGTGAGACCAGAGGCTGGAGTTGGGGAGGGAGGATGGAGGACCTGCCCTTCCTTCTCACC CAGGACGTCTGCAGAGCTGAGGAGCCACATGACTCCTGCCCTCCCATCCTCTGCCTTTTTCTCTTTCAGAACAAGGTGGTGACTGTGGATGGCGTGAGAGTGAAGCTGCAGGTGAGACCAGAGGCTGGAGTTGGGGAGGGAGGATGGAGGACCTGCCCTTCCTTCTCACC natural 15 31 1 0.9847472 0.9923736 361 339 0.9791299 0.8514309 0.9152804 1 0.9847472 0.9791299 0.8514309 0 0 0 0 0.9923736 0.9152804 0 0 0 FALSE FALSE NA NA NA NA NA RAB37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAB37 NA NA NA ENSG00000172794 ENSE00003462631 NA NA NA NA NA NA NA 8.226921e-05 FALSE NA ENSE00002351641_002 ENSE00002351641 002 17 72738324 72738493 + 69 42 59 G C 72738376 2958 53 CAGGACGTCTGCAGAGCTGAGGAGCCACATGACTCCTGCCCTCCCATCCTCTCCCTTTTTCTCTTTCAGAACAAGGTGGTGACTGTGGATGGCGTGAGAGTGAAGCTGCAGGTGAGACCAGAGGCTGGAGTTGGGGAGGGAGGATGGAGGACCTGCCCTTCCTTCTCACC 74742184 74742354 74742236 74742237 74742237 upstr_intron -17 -0.2318841 CAGGACGTCTGCAGAGCTGAGGAGCCACATGACTCCTGCCCTCCCATCCTCTCCCTTTTTCTCTTTCAGAACAAGGTGGTGACTGTGGATGGCGTGAGAGTGAAGCTGCAGGTGAGACCAGAGGCTGGAGTTGGGGAGGGAGGATGGAGGACCTGCCCTTCCTTCTCACC CAGGACGTCTGCAGAGCTGAGGAGCCACATGACTCCTGCCCTCCCATCCTCTGCCTTTTTCTCTTTCAGAACAAGGTGGTGACTGTGGATGGCGTGAGAGTGAAGCTGCAGGTGAGACCAGAGGCTGGAGTTGGGGAGGGAGGATGGAGGACCTGCCCTTCCTTCTCACC mutant NA NA NA NA NA 14 16 1 0.9899845 0.9949923 1 0.9847472 0.9791299 0.8514309 NA NA 0.02087012 0.1385536 0.9923736 0.9152804 NA 0.07971187 NA FALSE NA 0.002 0.138 . intron_variant MODIFIER RAB37 HGNC 30268 ENST00000528438 2/8 rs201210499 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TGC G,C 8.236e-06 17:74742237 RAB37 HGNC Symbol protein_coding 76757 ENSG00000172794 ENSE00003462631 intron_variant 1.029277 0.46175 0.03572 0.120541 0.7009455 0.409127 8.226921e-05 FALSE 1.22754e-05 ENSE00002351718_000 ENSE00002351718 000 5 131995047 131995216 + 63 54 53 NA NA NA NA NA GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT 132659354 132659524 NA NA NA NA NA NA GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT natural 35 40 0.9972448 0.9970488 0.9971468 1340 865 0.9517343 0.9402879 0.9460111 0.9972448 0.9970488 0.9517343 0.9402879 0 0 0 0 0.9971468 0.9460111 0 0 0 FALSE FALSE NA NA NA NA NA IL13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL13 NA NA NA ENSG00000169194 ENSE00003591221 NA NA NA NA NA NA NA 0.02571469 FALSE NA ENSE00002351718_BRK ENSE00002351718 BRK 5 131995047 131995216 + 63 54 53 A,G; T,T NA NA NA GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACTTGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGCCAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT 132659354 132659524 NA NA NA NA NA NA GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACTTGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGCCAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT control 110 83 0 0 0 NA NA NA NA NA 0.9972448 0.9970488 0.9517343 0.9402879 -0.9972448 -0.9970488 NA NA 0.9971468 0.9460111 -0.9971468 NA NA NA TRUE NA NA NA NA NA IL13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL13 NA NA NA ENSG00000169194 ENSE00003591221 NA NA NA NA NA NA NA 0.02571469 FALSE NA ENSE00002352137_000 ENSE00002352137 000 5 80550173 80550342 + 42 96 32 NA NA NA NA NA TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 NA NA NA NA NA NA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA natural NA NA NA NA NA 1760 1851 0.9801859 0.9014198 0.9408029 NA NA 0.9801859 0.9014198 NA NA 0 0 NA 0.9408029 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003626877 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002352137_016 ENSE00002352137 016 5 80550173 80550342 + 42 96 32 G C 80550292 771 120 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCGGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254472 81254473 81254473 exon -19 0.8125 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACCGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 502 204 0.9875421 1 0.9937711 NA NA 0.9801859 0.9014198 NA NA 0.007356179 0.09858019 NA 0.9408029 NA 0.05296818 NA FALSE NA 0 -5.699 NA NA NA CKMT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CKMT2 NA NA NA ENSG00000131730 ENSE00003626877 synonymous_variant 0.160171 0.11174 0.0306 0.57788 0.6374298 0 7.873089e-10 FALSE 4.06197e-06 ENSE00002352137_BRK ENSE00002352137 BRK 5 80550173 80550342 + 42 96 32 A,G; T,T NA NA NA TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTGGCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACAAGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 NA NA NA NA NA NA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCTTGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGCCAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA control 135 78 0 0 0 NA NA NA NA NA NA NA 0.9801859 0.9014198 NA NA NA NA NA 0.9408029 NA NA NA NA NA NA NA NA NA NA CKMT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CKMT2 NA NA NA ENSG00000131730 ENSE00003626877 NA NA NA NA NA NA NA 7.873089e-10 FALSE NA ENSE00002352443_000 ENSE00002352443 000 17 40812601 40812770 + 56 69 45 NA NA NA NA NA TCTTCGGCCTCCCTGCCCATTCCTTCCCCCACTCCATAACTTCACCTCCAAACTGTCACTTCCATCTGCTTCTCGGTCTATGATGTCAAAGATGTCTTCATGAATTTTCTCACCCTGTATAGAGATATGGAAAGGGAGGGTCAGGCCAAAGGTTCCAGAGAGCATCTTTT 42660582 42660752 NA NA NA NA NA NA AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA natural 127 160 0.9911365 0.9710341 0.9810853 1236 1400 0.917693 0.8649663 0.8913296 0.9911365 0.9710341 0.917693 0.8649663 0 0 0 0 0.9810853 0.8913296 0 0 0 FALSE FALSE NA NA NA NA NA TUBG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TUBG2 NA NA NA ENSG00000037042 ENSE00003692168 NA NA NA NA NA NA NA 0.004310019 FALSE NA ENSE00002352443_001 ENSE00002352443 001 17 40812601 40812770 + 56 69 45 T C 40812612 1985 12 TCTTCGGCCTCCCTGCCCATTCCTTCCCCCACTCCATAACTTCACCTCCAAACTGTCACTTCCATCTGCTTCTCGGTCTATGATGTCAAAGATGTCTTCATGAATTTTCTCACCCTGTATAGAGATATGGAAAGGGAGGGTCAGGCCAAAGGTTCCAGGGAGCATCTTTT 42660582 42660752 42660593 42660594 42660594 upstr_intron -45 -0.7857143 AAAAGATGCTCCCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA mutant 12 46 0.9923101 0.989271 0.9907906 NA NA NA NA NA 0.9911365 0.9710341 0.917693 0.8649663 0.001173667 0.01823691 NA NA 0.9810853 0.8913296 0.009705288 NA NA NA FALSE 0.006 1.212 . intron_variant&non_coding_transcript_variant MODIFIER TUBG2 HGNC 12419 ENST00000588870 2/8 1 NA CTC T,C 1.647e-05 17:42660594 TUBG2 HGNC Symbol protein_coding 7701 ENSG00000037042 ENSE00003692168 intron_variant 0.00822 0.29581 0.04471 0.110006 0.7740669 0.121657 0.004310019 FALSE 8.1416e-06 ENSE00002352443_005 ENSE00002352443 005 17 40812601 40812770 + 56 69 45 A G 40812651 1989 51 TCTTCGGCCTCCCTGCCCATTCCTTCCCCCACTCCATAACTTCACCTCCAAACTGTCACTTCCATCTGCTTCTCGGTCTATGATGTCAAAGATGTCTTCATGAATTTTCTCACCCTGTACAGAGATATGGAAAGGGAGGGTCAGGCCAAAGGTTCCAGAGAGCATCTTTT 42660582 42660752 42660632 42660633 42660633 upstr_intron -6 -0.08928571 AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTGTACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA mutant NA NA NA NA NA 92 212 1 1 1 0.9911365 0.9710341 0.917693 0.8649663 NA NA 0.08230702 0.1350337 0.9810853 0.8913296 NA 0.1086704 NA FALSE NA 0 -0.63 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TUBG2 HGNC 12419 ENST00000588870 2/8 1 NA TAT A,G 4.118e-05 17:42660633 TUBG2 HGNC Symbol protein_coding 7701 ENSG00000037042 ENSE00003692168 splice_region_variant 0.822132 0.7144 0.08675 0.256391 0.7960731 0.39743 0.004310019 FALSE 2.8428e-05 ENSE00002352443_008 ENSE00002352443 008 17 40812601 40812770 + 56 69 45 C T 40812677 1992 77 TCTTCGGCCTCCCTGCCCATTCCTTCCCCCACTCCATAACTTCACCTCCAAACTGTCACTTCCATCTGCTTCTCGGTCTATGATGTCAAAGATATCTTCATGAATTTTCTCACCCTGTATAGAGATATGGAAAGGGAGGGTCAGGCCAAAGGTTCCAGAGAGCATCTTTT 42660582 42660752 42660658 42660659 42660659 exon 21 0.3043478 AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGATATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA mutant NA NA NA NA NA 253 102 1 1 1 0.9911365 0.9710341 0.917693 0.8649663 NA NA 0.08230702 0.1350337 0.9810853 0.8913296 NA 0.1086704 NA FALSE NA 0.946 0.375 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TUBG2 HGNC 12419 ENST00000588870 3/9 1 NA ACA C,T 1.647e-05 17:42660659 TUBG2 HGNC Symbol protein_coding 7701 ENSG00000037042 ENSE00003692168 synonymous_variant 1.711936 0.93276 0.27117 0.660085 0.789173 0 0.004310019 FALSE 2.43645e-05 ENSE00002352443_016 ENSE00002352443 016 17 40812601 40812770 + 56 69 45 G T 40812745 2000 145 TCTTCGGCCTCCCTGCCCATTCCTTACCCCACTCCATAACTTCACCTCCAAACTGTCACTTCCATCTGCTTCTCGGTCTATGATGTCAAAGATGTCTTCATGAATTTTCTCACCCTGTATAGAGATATGGAAAGGGAGGGTCAGGCCAAAGGTTCCAGAGAGCATCTTTT 42660582 42660752 42660726 42660727 42660727 downstr_intron 20 1.454545 AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGTAAGGAATGGGCAGGGAGGCCGAAGA AAAAGATGCTCTCTGGAACCTTTGGCCTGACCCTCCCTTTCCATATCTCTATACAGGGTGAGAAAATTCATGAAGACATCTTTGACATCATAGACCGAGAAGCAGATGGAAGTGACAGTTTGGAGGTGAAGTTATGGAGTGGGGGAAGGAATGGGCAGGGAGGCCGAAGA mutant NA NA NA NA NA 54 233 1 1 1 0.9911365 0.9710341 0.917693 0.8649663 NA NA 0.08230702 0.1350337 0.9810853 0.8913296 NA 0.1086704 NA FALSE NA 0 -0.153 . intron_variant&non_coding_transcript_variant MODIFIER TUBG2 HGNC 12419 ENST00000588870 3/8 1 NA GGA G,T 8.236e-06 17:42660727 TUBG2 HGNC Symbol protein_coding 7701 ENSG00000037042 ENSE00003692168 non_coding_transcript_exon_variant 0.407314 0.13472 0.01068 0 0.7137436 0.0770323 0.004310019 FALSE 4.0714e-06 ENSE00002352481_000 ENSE00002352481 000 7 158475956 158476125 - 36 87 47 NA NA NA NA NA TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 NA NA NA NA NA NA TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT natural 28 21 0.9960917 1 0.9980458 2724 3950 0.994215 0.8360609 0.9151379 0.9960917 1 0.994215 0.8360609 0 0 0 0 0.9980458 0.9151379 0 0 0 FALSE FALSE NA NA NA NA NA NCAPG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCAPG2 NA NA NA ENSG00000146918 ENSE00003641703 NA NA NA NA NA NA NA 0.9757112 TRUE NA ENSE00002352481_001 ENSE00002352481 001 7 158475956 158476125 - 36 87 47 A G 158475974 3247 152 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGACTGTTTTTGAAATAATGTT 158683263 158683433 158683281 158683282 158683282 downstr_intron 18 1.514286 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGACTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 3656 1378 0.9991473 0.9987999 0.9989736 0.9960917 1 0.994215 0.8360609 NA NA 0.004932229 0.162739 0.9980458 0.9151379 NA 0.08383561 NA FALSE NA 0.17 1.265 . intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 4/21 1 NA AAT A,G 8.278e-06 7:158683282 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant 0.119128 0.1756 0.05749 0.156188 0.5697228 0.0850907 0.9757112 TRUE 1.64387e-05 ENSE00002352481_002 ENSE00002352481 002 7 158475956 158476125 - 36 87 47 T A 158475980 3248 146 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGTACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683287 158683288 158683288 downstr_intron 12 1.342857 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGTACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 581 557 1 0.9999316 0.9999658 0.9960917 1 0.994215 0.8360609 NA NA 0.005784963 0.1638708 0.9980458 0.9151379 NA 0.08482787 NA FALSE NA 0 -0.56 . intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 4/21 1 NA TTC T,A 3.311e-05 7:158683288 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant 0.750073 0.1575 0.02825 0.156188 0.6483853 0.085141 0.9757112 TRUE 4.39042e-05 ENSE00002352481_003 ENSE00002352481 003 7 158475956 158476125 - 36 87 47 C T 158475987 3249 139 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAAATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683294 158683295 158683295 downstr_intron 5 1.142857 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAAATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1983 394 0.9960578 0.9950521 0.9955549 0.9960917 1 0.994215 0.8360609 NA NA 0.001842724 0.1589912 0.9980458 0.9151379 NA 0.08041697 NA FALSE NA 0.908 1.636 . splice_region_variant&intron_variant LOW NCAPG2 HGNC 21904 ENST00000275830 4/21 1 NA TCT C,T 8.277e-06 7:158683295 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 splice_region_variant 1.863934 0.95785 0.63422 0.156188 0.9247949 0.971093 0.9757112 TRUE 4.65484e-06 ENSE00002352481_005 ENSE00002352481 005 7 158475956 158476125 - 36 87 47 C T 158475994 3251 132 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGAAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683301 158683302 158683302 exon -3 0.9770115 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGAAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1259 430 0.9945451 0.9999114 0.9972283 0.9960917 1 0.994215 0.8360609 NA NA 0.0003301081 0.1638506 0.9980458 0.9151379 NA 0.08209035 NA FALSE NA 0.998 3.141 . missense_variant&splice_region_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 1 benign(0.2) NA TCC C,T 8.277e-06 7:158683302 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant 4.016594 0.93112 0.81547 0.732398 0.9961657 0 0.9757112 TRUE 4.43872e-06 ENSE00002352481_006 ENSE00002352481 006 7 158475956 158476125 - 36 87 47 C T 158475996 3252 130 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCAGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683303 158683304 158683304 exon -5 0.954023 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCAGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1477 500 0.9868113 0.9992245 0.9930179 0.9960917 1 0.994215 0.8360609 NA NA -0.00740378 0.1631636 0.9980458 0.9151379 NA 0.07787991 NA FALSE NA 1 6.775 . missense_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 rs200693006 1 probably_damaging(0.987) NA CCG C,T 8.277e-06 7:158683304 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant 8.148558 0.97052 0.94958 0.732398 0.999597 0 0.9757112 TRUE NA ENSE00002352481_008 ENSE00002352481 008 7 158475956 158476125 - 36 87 47 C T 158476000 3254 126 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAATGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683307 158683308 158683308 exon -9 0.908046 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAATGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 700 453 0.9948066 0.9927998 0.9938032 0.9960917 1 0.994215 0.8360609 NA NA 0.0005915175 0.156739 0.9980458 0.9151379 NA 0.07866524 NA FALSE NA 1 6.775 . missense_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 1 probably_damaging(0.998) NA ACT C,T 8.277e-06 7:158683308 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant 7.12829 0.97071 0.94966 0.732398 0.9989759 0 0.9757112 TRUE 4.40172e-06 ENSE00002352481_009 ENSE00002352481 009 7 158475956 158476125 - 36 87 47 G A 158476009 3255 117 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGTATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683316 158683317 158683317 exon -18 0.8045977 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGTATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 387 777 1 0.997915 0.9989575 0.9960917 1 0.994215 0.8360609 NA NA 0.005784963 0.1618541 0.9980458 0.9151379 NA 0.08381954 NA FALSE NA 1 5.576 . missense_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 1 benign(0.392) NA TGC G,A 1.655e-05 7:158683317 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant 4.676572 0.9455 0.91049 0.719381 0.9800416 0 0.9757112 TRUE NA ENSE00002352481_010 ENSE00002352481 010 7 158475956 158476125 - 36 87 47 G T 158476031 3256 95 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACAACTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683338 158683339 158683339 exon -40 0.5517241 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACAACTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1142 1266 0.9962801 0.9953965 0.9958383 0.9960917 1 0.994215 0.8360609 NA NA 0.00206511 0.1593357 0.9980458 0.9151379 NA 0.08070038 NA FALSE NA 1 1.753 . missense_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 1 possibly_damaging(0.895) NA GGT G,T 8.275e-06 7:158683339 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant 3.119335 0.91691 0.78297 0.719381 0.9828851 0 0.9757112 TRUE 8.35771e-06 ENSE00002352481_011 ENSE00002352481 011 7 158475956 158476125 - 36 87 47 C T 158476039 3257 87 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACAGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683346 158683347 158683347 exon 40 0.4597701 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACAGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 3019 839 0.9971294 0.9927685 0.9949489 0.9960917 1 0.994215 0.8360609 NA NA 0.002914352 0.1567076 0.9980458 0.9151379 NA 0.07981098 NA FALSE NA 1 6.775 . missense_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 1 probably_damaging(1) NA CCG C,T 8.275e-06 7:158683347 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant 7.082032 0.97052 0.94958 0.719381 0.9994048 0 0.9757112 TRUE NA ENSE00002352481_012 ENSE00002352481 012 7 158475956 158476125 - 36 87 47 T C 158476041 3258 85 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCGCGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683348 158683349 158683349 exon 38 0.4367816 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCGCGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 608 1679 0.9995252 0.9957555 0.9976404 0.9960917 1 0.994215 0.8360609 NA NA 0.005310192 0.1596947 0.9980458 0.9151379 NA 0.08250243 NA FALSE NA 1 6.965 . missense_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 rs552091385 1 probably_damaging(0.979) C:0.0006 C:0 C:0 NA C:0 C:0 C:0.0031 GTG T,C 4.965e-05 7:158683349 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant 3.818319 0.96341 0.94587 0.719381 0.9965951 0 0.9757112 TRUE 5.84922e-05 ENSE00002352481_013 ENSE00002352481 013 7 158475956 158476125 - 36 87 47 G A 158476043 3259 83 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTTCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683350 158683351 158683351 exon 36 0.4137931 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTTCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1291 968 0.8684436 0.7313425 0.7998931 0.9960917 1 0.994215 0.8360609 NA NA -0.1257714 -0.1047183 0.9980458 0.9151379 NA -0.1152449 NA FALSE NA 1 2.59 rs10274075 synonymous_variant LOW NCAPG2 HGNC 21904 ENST00000275830 4/22 rs10274075 1 A:0.0323 A:0.1172 A:0.0086 NA A:0 A:0.001 A:0 A:0.0998 A:0.0005 GGA G,A 0.008945 7:158683351 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 synonymous_variant 1.320328 0.9212 0.68133 0.719381 0.7648139 0 0.9757112 TRUE 0.00702577 ENSE00002352481_014 ENSE00002352481 014 7 158475956 158476125 - 36 87 47 A C 158476064 3260 62 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGAGTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683371 158683372 158683372 exon 15 0.1724138 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGAGTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 901 2327 0.994339 0.9974055 0.9958722 0.9960917 1 0.994215 0.8360609 NA NA 0.0001239675 0.1613446 0.9980458 0.9151379 NA 0.08073428 NA FALSE NA 0 -0.373 . missense_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 1 benign(0.122) NA AAT A,C 8.271e-06 7:158683372 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant -2.329582 0.20465 0.10816 0.719381 0.3038995 0 0.9757112 TRUE 4.24701e-06 ENSE00002352481_015 ENSE00002352481 015 7 158475956 158476125 - 36 87 47 G A 158476077 3261 49 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGTGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683384 158683385 158683385 exon 2 0.02298851 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGTGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 2707 688 0.9941259 0.9997701 0.996948 0.9960917 1 0.994215 0.8360609 NA NA -8.90943e-05 0.1637092 0.9980458 0.9151379 NA 0.08181005 NA FALSE NA 0.004 1.326 . missense_variant&splice_region_variant MODERATE NCAPG2 HGNC 21904 ENST00000275830 4/22 1 benign(0.003) NA CGC G,A 3.308e-05 7:158683385 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 missense_variant 0.820049 0.29705 0.13939 0.719381 0.6983147 0 0.9757112 TRUE NA ENSE00002352481_017 ENSE00002352481 017 7 158475956 158476125 - 36 87 47 C T 158476088 3263 38 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTATTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683395 158683396 158683396 upstr_intron -10 -0.1914894 TAGGACACACACACACCAAGTGCTTTGCATTGCATTTATTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1062 1311 0.9956455 0.9749476 0.9852966 0.9960917 1 0.994215 0.8360609 NA NA 0.001430484 0.1388867 0.9980458 0.9151379 NA 0.0701586 NA FALSE NA 0 -1.049 rs148607072 intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 3/21 rs148607072 1 T:0.0016 T:0.0061 T:0 NA T:0 T:0 T:0 T:0.0117 T:0.0001 ACA C,T 0.001298 7:158683396 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant 0.101032 0.20119 0.04063 0.099367 0.5378637 0.0751813 0.9757112 TRUE 0.00107546 ENSE00002352481_018 ENSE00002352481 018 7 158475956 158476125 - 36 87 47 A C 158476089 3264 37 TAGGACACACACACACCAAGTGCTTTGCATTGCATTGGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683396 158683397 158683397 upstr_intron -11 -0.212766 TAGGACACACACACACCAAGTGCTTTGCATTGCATTGGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1831 427 0.9988026 1 0.9994013 0.9960917 1 0.994215 0.8360609 NA NA 0.004587612 0.1639391 0.9980458 0.9151379 NA 0.08426337 NA FALSE NA 0.434 3.51 . intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 3/21 1 NA CAA A,C 8.27e-06 7:158683397 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant -0.268336 0.30667 0.5165 0.099367 0.6128999 0.119625 0.9757112 TRUE 8.65276e-06 ENSE00002352481_019 ENSE00002352481 019 7 158475956 158476125 - 36 87 47 T A 158476097 3265 29 TAGGACACACACACACCAAGTGCTTTGCTTTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683404 158683405 158683405 upstr_intron -19 -0.3829787 TAGGACACACACACACCAAGTGCTTTGCTTTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 702 1353 1 0.9973346 0.9986673 0.9960917 1 0.994215 0.8360609 NA NA 0.005784963 0.1612737 0.9980458 0.9151379 NA 0.08352933 NA FALSE NA 0 -1.905 . intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 3/21 1 NA ATG T,A 8.27e-06 7:158683405 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant -0.122511 0.12545 0.07309 0.099367 0.4553966 0.0947173 0.9757112 TRUE 4.42028e-06 ENSE00002352481_020 ENSE00002352481 020 7 158475956 158476125 - 36 87 47 C T 158476104 3266 22 TAGGACACACACACACCAAGTACTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683411 158683412 158683412 upstr_intron -26 -0.5319149 TAGGACACACACACACCAAGTACTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1490 783 0.9924093 0.9217485 0.9570789 0.9960917 1 0.994215 0.8360609 NA NA -0.00180576 0.08568763 0.9980458 0.9151379 NA 0.04194094 NA FALSE NA 0 -2.532 rs187103508 intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 3/21 rs187103508 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0018 T:0 GCA C,T 0.0001902 7:158683412 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant 0.058275 0.17882 0.0135 0.091178 0.629643 0.051335 0.9757112 TRUE 0.000129718 ENSE00002352481_021 ENSE00002352481 021 7 158475956 158476125 - 36 87 47 C T 158476106 3267 20 TAGGACACACACACACCAAATGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683413 158683414 158683414 upstr_intron -28 -0.5744681 TAGGACACACACACACCAAATGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1812 788 0.9987671 0.9854986 0.9921328 0.9960917 1 0.994215 0.8360609 NA NA 0.004552041 0.1494377 0.9980458 0.9151379 NA 0.07699488 NA FALSE NA 0 0.421 rs6970374 intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 3/21 rs6970374 1 T:0.1210 T:0.1225 T:0.134 NA T:0.0089 T:0.1779 T:0.1667 ACT C,T 0.17 7:158683414 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant 0.302283 0.36264 0.05584 0.091178 0.5213231 0.490147 0.9757112 TRUE 0.169768 ENSE00002352481_022 ENSE00002352481 022 7 158475956 158476125 - 36 87 47 T G 158476111 3268 15 TAGGACACACACACCCCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683418 158683419 158683419 upstr_intron -33 -0.6808511 TAGGACACACACACCCCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 1927 2121 0.9934137 0.9810953 0.9872545 0.9960917 1 0.994215 0.8360609 NA NA -0.0008013112 0.1450344 0.9980458 0.9151379 NA 0.07211655 NA FALSE NA 0 -1.313 . intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 3/21 1 NA GTG T,G 8.34e-06 7:158683419 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant -0.253442 0.11762 0.03107 0.091178 0.3486443 0.0512984 0.9757112 TRUE 4.79998e-06 ENSE00002352481_023 ENSE00002352481 023 7 158475956 158476125 - 36 87 47 T C 158476115 3269 11 TAGGACACACGCACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 158683422 158683423 158683423 upstr_intron -37 -0.7659574 TAGGACACACGCACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT mutant NA NA NA NA NA 2297 712 0.9992653 0.9961312 0.9976983 0.9960917 1 0.994215 0.8360609 NA NA 0.005050309 0.1600703 0.9980458 0.9151379 NA 0.08256032 NA FALSE NA 0 -1.66 . intron_variant MODIFIER NCAPG2 HGNC 21904 ENST00000275830 3/21 1 NA GTG T,C 8.269e-06 7:158683423 NCAPG2 HGNC Symbol protein_coding 73518 ENSG00000146918 ENSE00003641703 intron_variant 0.007724 0.13824 0.02559 0.091178 0.4683898 0.0520872 0.9757112 TRUE NA ENSE00002352481_BRK ENSE00002352481 BRK 7 158475956 158476125 - 36 87 47 A,G; T,T NA NA NA TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCTTGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGCCAAGATTGTGAACAGATTGTTTTTGAAATAATGTT 158683263 158683433 NA NA NA NA NA NA TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCTTGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGCCAAGATTGTGAACAGATTGTTTTTGAAATAATGTT TAGGACACACACACACCAAGTGCTTTGCATTGCATTTGTTATTTCAGGCGATTGAAAATGATTGCATCCAGGACTTCATGTTCCACGGGATACACCTTCCGAGGAGGTCTCCAGTGCATTCCAAAGTGCGGGAGGTAAGATTGTGAACAGATTGTTTTTGAAATAATGTT control 135 115 0 0 0 NA NA NA NA NA 0.9960917 1 0.994215 0.8360609 -0.9960917 -1 NA NA 0.9980458 0.9151379 -0.9980458 NA NA NA TRUE NA NA NA NA NA NCAPG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCAPG2 NA NA NA ENSG00000146918 ENSE00003641703 NA NA NA NA NA NA NA 0.9757112 TRUE NA ENSE00002352652_000 ENSE00002352652 000 5 145383579 145383748 + 42 96 32 NA NA NA NA NA GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 NA NA NA NA NA NA GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC natural 68 89 0.9986395 0.9953314 0.9969854 3279 2992 0.8551315 0.8967751 0.8759533 0.9986395 0.9953314 0.8551315 0.8967751 0 0 0 0 0.9969854 0.8759533 0 0 0 FALSE FALSE NA NA NA NA NA SH3RF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SH3RF2 NA NA NA ENSG00000156463 ENSE00002496161 NA NA NA NA NA NA NA 1.790744e-11 FALSE NA ENSE00002352652_001 ENSE00002352652 001 5 145383579 145383748 + 42 96 32 A C 145383592 1451 14 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATGTACTCTCATTTTC 146004015 146004185 146004028 146004029 146004029 upstr_intron -29 -0.6666667 GAAAATGAGAGTACATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 466 246 1 1 1 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1448685 0.1032249 0.9969854 0.8759533 NA 0.1240467 NA FALSE NA 0 0.369 . intron_variant MODIFIER SH3RF2 HGNC 26299 ENST00000359120 3/9 rs375162590 1 NA C:0.0002 C:0 AAA A,C 8.236e-06 5:146004029 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 intron_variant 0.28213 0.24853 0.12137 0.053691 0.714917 0.10382 1.790744e-11 FALSE 8.21011e-06 ENSE00002352652_002 ENSE00002352652 002 5 145383579 145383748 + 42 96 32 C G 145383596 1452 18 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCACCATTTACTCTCATTTTC 146004015 146004185 146004032 146004033 146004033 upstr_intron -25 -0.5714286 GAAAATGAGAGTAAATGGTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1153 302 0.9979113 0.9929421 0.9954267 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1427797 0.096167 0.9969854 0.8759533 NA 0.1194734 NA FALSE NA 0.01 -0.566 . intron_variant MODIFIER SH3RF2 HGNC 26299 ENST00000359120 3/9 1 NA GCT C,G 8.237e-06 5:146004033 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 intron_variant 0.395494 0.23639 0.05427 0.053691 0.5741834 0.102613 1.790744e-11 FALSE NA ENSE00002352652_003 ENSE00002352652 003 5 145383579 145383748 + 42 96 32 G C 145383598 1453 20 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTGAGCATTTACTCTCATTTTC 146004015 146004185 146004034 146004035 146004035 upstr_intron -23 -0.5238095 GAAAATGAGAGTAAATGCTCACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 744 824 0.9972558 0.9987839 0.9980198 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1421242 0.1020088 0.9969854 0.8759533 NA 0.1220665 NA FALSE NA 0.388 0.682 . intron_variant MODIFIER SH3RF2 HGNC 26299 ENST00000359120 3/9 1 NA TGA G,C 8.237e-06 5:146004035 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 intron_variant -0.042015 0.26391 0.17608 0.053691 0.638802 0.155303 1.790744e-11 FALSE NA ENSE00002352652_004 ENSE00002352652 004 5 145383579 145383748 + 42 96 32 C A 145383601 1454 23 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATTGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004037 146004038 146004038 upstr_intron -20 -0.452381 GAAAATGAGAGTAAATGCTGACAATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1364 1171 0.9985022 0.9804668 0.9894845 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1433707 0.08369164 0.9969854 0.8759533 NA 0.1135312 NA FALSE NA 0 -1.582 . intron_variant MODIFIER SH3RF2 HGNC 26299 ENST00000359120 3/9 1 NA CCA C,A 8.237e-06 5:146004038 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 intron_variant 0.103198 0.26772 0.12187 0.053691 0.5726178 0.0896763 1.790744e-11 FALSE 4.09122e-06 ENSE00002352652_005 ENSE00002352652 005 5 145383579 145383748 + 42 96 32 G C 145383620 1455 42 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCGTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004056 146004057 146004057 upstr_intron -1 0 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCACGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 651 176 0.1350435 0 0.06752175 0.9986395 0.9953314 0.8551315 0.8967751 NA NA -0.720088 -0.8967751 0.9969854 0.8759533 NA -0.8084316 NA TRUE NA 1 9.306 . splice_acceptor_variant HIGH SH3RF2 HGNC 26299 ENST00000359120 3/9 1 NA HC AGG G,C 8.236e-06 5:146004057 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 splice_acceptor_variant 5.348617 0.99555 0.99794 0.053691 0.9953194 0.987717 1.790744e-11 FALSE 4.0777e-06 ENSE00002352652_006 ENSE00002352652 006 5 145383579 145383748 + 42 96 32 C T 145383623 1456 45 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCATCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004059 146004060 146004060 exon 3 0.03125 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGATGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 2145 18 1 0.9911105 0.9955552 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1448685 0.09433534 0.9969854 0.8759533 NA 0.1196019 NA FALSE NA 0.98 0.214 . splice_region_variant&synonymous_variant LOW SH3RF2 HGNC 26299 ENST00000359120 4/10 1 NA ACG C,T 8.236e-06 5:146004060 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 splice_region_variant 1.340601 0.95741 0.10718 0.553676 0.8084831 0 1.790744e-11 FALSE 8.15588e-06 ENSE00002352652_007 ENSE00002352652 007 5 145383579 145383748 + 42 96 32 G A 145383624 1457 46 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATTGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004060 146004061 146004061 exon 4 0.04166667 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACAATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 399 2128 0.9918344 0.9965832 0.9942088 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1367029 0.09980813 0.9969854 0.8759533 NA 0.1182555 NA FALSE NA 1 9.306 . missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 1 deleterious(0) probably_damaging(1) NA CGA G,A 9.884e-05 5:146004061 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 7.285708 0.99536 0.99756 0.553676 0.9992769 0 1.790744e-11 FALSE 9.78274e-05 ENSE00002352652_009 ENSE00002352652 009 5 145383579 145383748 + 42 96 32 A G 145383627 1459 49 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGACATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004063 146004064 146004064 exon 7 0.07291667 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATGTCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 778 1081 1 0.9973515 0.9986758 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1448685 0.1005764 0.9969854 0.8759533 NA 0.1227224 NA FALSE NA 0.106 0.798 rs181855153 missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 rs181855153 1 tolerated(0.52) benign(0.024) G:0.0008 G:0 G:0 NA G:0.004 G:0 G:0 TAT A,G 0.0003542 5:146004064 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 0.777535 0.9665 0.39081 0.553676 0.581568 0 1.790744e-11 FALSE 0.000374471 ENSE00002352652_010 ENSE00002352652 010 5 145383579 145383748 + 42 96 32 T G 145383628 1460 50 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGCTATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004064 146004065 146004065 exon 8 0.08333333 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATAGCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1140 57 1 1 1 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1448685 0.1032249 0.9969854 0.8759533 NA 0.1240467 NA FALSE NA 1 7.562 . missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 1 deleterious(0.05) benign(0.167) NA ATC T,G 4.118e-05 5:146004065 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 4.956281 0.99379 0.99613 0.553676 0.9947655 0 1.790744e-11 FALSE 4.4773e-05 ENSE00002352652_012 ENSE00002352652 012 5 145383579 145383748 + 42 96 32 A T 145383639 1462 61 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGAACACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004075 146004076 146004076 exon 19 0.1979167 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGTTCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 344 1022 0.994489 0.9999628 0.9972259 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1393575 0.1031876 0.9969854 0.8759533 NA 0.1212726 NA FALSE NA 1 5.812 NA NA NA SH3RF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:146004076 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 5.222736 0.98326 0.96827 0.554377 0.9867153 0 1.790744e-11 FALSE 4.06643e-06 ENSE00002352652_013 ENSE00002352652 013 5 145383579 145383748 + 42 96 32 T A 145383640 1463 62 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGTTCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004076 146004077 146004077 exon 20 0.2083333 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGAACAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1155 1782 0.9090022 0.9949424 0.9519723 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.05387064 0.09816731 0.9969854 0.8759533 NA 0.07601897 NA FALSE NA 1 7.611 . missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 1 deleterious(0) probably_damaging(0.959) NA ATC T,A 8.236e-06 5:146004077 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 7.157321 0.99371 0.98665 0.554377 0.9937586 0 1.790744e-11 FALSE 8.13259e-06 ENSE00002352652_014 ENSE00002352652 014 5 145383579 145383748 + 42 96 32 C G 145383641 1464 63 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTCATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004077 146004078 146004078 exon 21 0.21875 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATGAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 308 462 0.9995021 1 0.999751 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1443706 0.1032249 0.9969854 0.8759533 NA 0.1237977 NA FALSE NA 0.743 0.313 . missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 1 deleterious(0.02) possibly_damaging(0.855) NA TCA C,G 1.647e-05 5:146004078 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 5.107518 0.98425 0.91348 0.554377 0.9972632 0 1.790744e-11 FALSE 8.13431e-06 ENSE00002352652_015 ENSE00002352652 015 5 145383579 145383748 + 42 96 32 C T 145383644 1465 66 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGACTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004080 146004081 146004081 exon 24 0.25 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGTCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 404 1681 0.7859954 0.9855801 0.8857877 0.9986395 0.9953314 0.8551315 0.8967751 NA NA -0.06913618 0.08880501 0.9969854 0.8759533 NA 0.009834419 NA FALSE NA 0 -0.114 . synonymous_variant LOW SH3RF2 HGNC 26299 ENST00000359120 4/10 1 NA GCC C,T 8.236e-06 5:146004081 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 synonymous_variant 1.652134 0.97663 0.26518 0.554377 0.6844907 0 1.790744e-11 FALSE 4.06587e-06 ENSE00002352652_017 ENSE00002352652 017 5 145383579 145383748 + 42 96 32 G C 145383656 1467 78 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTGTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004092 146004093 146004093 exon 36 0.375 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGACAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 880 1317 0.9995784 1 0.9997892 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1444468 0.1032249 0.9969854 0.8759533 NA 0.1238359 NA FALSE NA 0.983 0.264 . missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 1 tolerated(0.14) benign(0.2) NA AGA G,C 8.236e-06 5:146004093 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 2.351863 0.98129 0.88513 0.553676 0.997973 0 1.790744e-11 FALSE 4.06431e-06 ENSE00002352652_018 ENSE00002352652 018 5 145383579 145383748 + 42 96 32 T A 145383683 1468 105 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTTTCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004119 146004120 146004120 exon -34 0.65625 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGAAAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1064 816 1 0.9983984 0.9991992 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1448685 0.1016232 0.9969854 0.8759533 NA 0.1232459 NA FALSE NA 0.876 -0.077 . missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 1 tolerated(0.08) probably_damaging(0.99) NA ATA T,A 8.236e-06 5:146004120 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 5.572587 0.97396 0.8374 0.553676 0.9964664 0 1.790744e-11 FALSE 8.12883e-06 ENSE00002352652_019 ENSE00002352652 019 5 145383579 145383748 + 42 96 32 T C 145383688 1469 110 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTGCTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004124 146004125 146004125 exon -29 0.7083333 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGCAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1756 432 0.9998124 0.9992032 0.9995078 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1446808 0.1024281 0.9969854 0.8759533 NA 0.1235544 NA FALSE NA 1 5.886 . missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 1 tolerated(0.13) benign(0.181) NA GTA T,C 8.236e-06 5:146004125 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 2.85136 0.98943 0.96806 0.553676 0.9987485 0 1.790744e-11 FALSE 4.06474e-06 ENSE00002352652_020 ENSE00002352652 020 5 145383579 145383748 + 42 96 32 A G 145383693 1470 115 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGACGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004129 146004130 146004130 exon -24 0.7604167 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCGTCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 191 1332 1 0.9943482 0.9971741 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1448685 0.09757304 0.9969854 0.8759533 NA 0.1212208 NA FALSE NA 1 8.86 . missense_variant MODERATE SH3RF2 HGNC 26299 ENST00000359120 4/10 1 deleterious(0.01) possibly_damaging(0.869) NA CAT A,G 8.236e-06 5:146004130 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 missense_variant 5.639741 0.99392 0.99094 0.553676 0.9992425 0 1.790744e-11 FALSE 4.06603e-06 ENSE00002352652_021 ENSE00002352652 021 5 145383579 145383748 + 42 96 32 T C 145383701 1471 123 GTAAATCAGATGTAGACTTGATACTCACGTACCTCTACAAACAAGATGGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004137 146004138 146004138 exon -16 0.84375 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCCATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1009 454 0.9989347 0.8476662 0.9233005 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1438032 -0.04910891 0.9969854 0.8759533 NA 0.04734713 NA FALSE NA 0 -3.493 . synonymous_variant LOW SH3RF2 HGNC 26299 ENST00000359120 4/10 1 NA CTA T,C 8.236e-06 5:146004138 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 synonymous_variant 0.092028 0.19178 0.02747 0.553676 0.4967859 0 1.790744e-11 FALSE 2.84812e-05 ENSE00002352652_022 ENSE00002352652 022 5 145383579 145383748 + 42 96 32 C T 145383720 1472 142 GTAAATCAGATGTAGACTTGATACTCACATACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004156 146004157 146004157 downstr_intron 4 1.129032 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTATGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 872 1552 0.9976581 0.998039 0.9978485 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1425266 0.1012639 0.9969854 0.8759533 NA 0.1218952 NA FALSE NA 0.945 -0.161 . splice_region_variant&intron_variant LOW SH3RF2 HGNC 26299 ENST00000359120 4/9 rs368899503 1 NA T:0.0005 T:0 ACG C,T 6.589e-05 5:146004157 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 splice_region_variant 1.976374 0.96986 0.55385 0.053691 0.7459615 0.375547 1.790744e-11 FALSE 4.48826e-05 ENSE00002352652_023 ENSE00002352652 023 5 145383579 145383748 + 42 96 32 G A 145383721 1473 143 GTAAATCAGATGTAGACTTGATACTCATGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004157 146004158 146004158 downstr_intron 5 1.16129 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACATGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 578 307 0.9946801 0.9959319 0.995306 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1395485 0.09915677 0.9969854 0.8759533 NA 0.1193527 NA FALSE NA 1 7.315 rs186099052 splice_region_variant&intron_variant LOW SH3RF2 HGNC 26299 ENST00000359120 4/9 rs186099052 1 A:0.0010 A:0 A:0 NA A:0 A:0.005 A:0 A:0 A:0.0001 CGT G,A 0.00159 5:146004158 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 splice_region_variant 2.265386 0.99129 0.99252 0.053691 0.9736601 0.97848 1.790744e-11 FALSE 0.0020235 ENSE00002352652_024 ENSE00002352652 024 5 145383579 145383748 + 42 96 32 G A 145383732 1474 154 GTAAATCAGATGTAGATTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004168 146004169 146004169 downstr_intron 16 1.516129 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAATCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1815 292 0.9874464 0.9815449 0.9844956 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1323149 0.08476974 0.9969854 0.8759533 NA 0.1085423 NA FALSE NA 0 -0.261 . intron_variant MODIFIER SH3RF2 HGNC 26299 ENST00000359120 4/9 1 NA AGT G,A 8.236e-06 5:146004169 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 intron_variant 0.963499 0.18519 0.01249 0.053691 0.6180871 0.175501 1.790744e-11 FALSE 4.09588e-06 ENSE00002352652_026 ENSE00002352652 026 5 145383579 145383748 + 42 96 32 A C 145383736 1476 158 GTAAATCAGATGGAGACTTGATACTCACGTACCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCCTGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 146004172 146004173 146004173 downstr_intron 20 1.645161 GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTCCATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC mutant NA NA NA NA NA 1822 366 0.9895532 0.8935391 0.9415461 0.9986395 0.9953314 0.8551315 0.8967751 NA NA 0.1344217 -0.00323604 0.9969854 0.8759533 NA 0.06559282 NA FALSE NA 0 -0.234 . intron_variant MODIFIER SH3RF2 HGNC 26299 ENST00000359120 4/9 1 NA TAC A,C 8.236e-06 5:146004173 SH3RF2 HGNC Symbol protein_coding 145212 ENSG00000156463 ENSE00002496161 intron_variant -0.103146 0.24488 0.04307 0.053691 0.5172631 0.0720398 1.790744e-11 FALSE 4.10219e-06 ENSE00002352652_BRK ENSE00002352652 BRK 5 145383579 145383748 + 42 96 32 A,G; T,T NA NA NA GTAAATCAGATGTAGACTTGATACTCACGTGGCTCTACAAACAAGATAGGGAAGATGCCTACTTTATCTCCTAACTTGCCTTCTGCCCAGTTCTCATCCACTCGGCTGATCACAGTGATGATATCGTCAAGAAAGAGAAAGTCTCATGGTCAGCATTTACTCTCATTTTC 146004015 146004185 NA NA NA NA NA NA GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCTTGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGCCACGTGAGTATCAAGTCTACATCTGATTTAC GAAAATGAGAGTAAATGCTGACCATGAGACTTTCTCTTTCAGGACGATATCATCACTGTGATCAGCCGAGTGGATGAGAACTGGGCAGAAGGCAAGTTAGGAGATAAAGTAGGCATCTTCCCTATCTTGTTTGTAGAGGTACGTGAGTATCAAGTCTACATCTGATTTAC control 267 725 0 0.05907427 0.02953714 723 1923 0 0.0001663018 8.315092e-05 0.9986395 0.9953314 0.8551315 0.8967751 -0.9986395 -0.9362571 -0.8551315 -0.8966088 0.9969854 0.8759533 -0.9674483 -0.8758702 0.09157813 TRUE TRUE NA NA NA NA NA SH3RF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SH3RF2 NA NA NA ENSG00000156463 ENSE00002496161 NA NA NA NA NA NA NA 1.790744e-11 FALSE NA ENSE00002352758_000 ENSE00002352758 000 6 139232381 139232550 - 32 96 42 NA NA NA NA NA AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 NA NA NA NA NA NA ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT natural 35 63 0.8180298 0.85 0.8340149 8034 2383 0.9386673 0.7983533 0.8685103 0.8180298 0.85 0.9386673 0.7983533 0 0 0 0 0.8340149 0.8685103 0 0 0 FALSE FALSE NA NA NA NA NA REPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REPS1 NA NA NA ENSG00000135597 ENSE00003506671 NA NA NA NA NA NA NA 0.9993636 TRUE NA ENSE00002352758_001 ENSE00002352758 001 6 139232381 139232550 - 32 96 42 T A 139232394 2252 157 AAAATTATTATTAAAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911256 138911257 138911257 downstr_intron 19 1.612903 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTTTAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 867 157 0.9563869 0.9490076 0.9526973 0.8180298 0.85 0.9386673 0.7983533 NA NA 0.01771959 0.1506544 0.8340149 0.8685103 NA 0.08418698 NA FALSE NA 0 0.363 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA ATA T,A 8.237e-06 6:138911257 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 non_coding_transcript_exon_variant 1.390917 0.25297 0.03236 0.163922 0.7948441 0.364141 0.9993636 TRUE 4.16868e-06 ENSE00002352758_002 ENSE00002352758 002 6 139232381 139232550 - 32 96 42 T C 139232417 2253 134 AAAATTATTATTATAAAAGACATTTTGCATACCACACTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911279 138911280 138911280 exon -5 0.9583333 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAGTGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 133 289 0.8024204 0.8 0.8012102 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.1362469 0.001646724 0.8340149 0.8685103 NA -0.06730011 NA FALSE NA 1 1.863 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA ATT T,C 8.237e-06 6:138911280 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 missense_variant 0.465901 0.96099 0.81861 0.732398 0.9721742 0 0.9993636 TRUE 4.06838e-06 ENSE00002352758_004 ENSE00002352758 004 6 139232381 139232550 - 32 96 42 A G 139232431 2255 120 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTGGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911293 138911294 138911294 exon -19 0.8125 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCCAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 1548 714 0.9753828 0.9917064 0.9835446 0.8180298 0.85 0.9386673 0.7983533 NA NA 0.03671548 0.1933531 0.8340149 0.8685103 NA 0.1150343 NA FALSE NA 1 3.023 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA TAG A,G 8.237e-06 6:138911294 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 synonymous_variant 1.012375 0.93127 0.92843 0.732398 0.6208075 0 0.9993636 TRUE 4.06431e-06 ENSE00002352758_007 ENSE00002352758 007 6 139232381 139232550 - 32 96 42 A G 139232434 2258 117 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCGGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911296 138911297 138911297 exon -22 0.78125 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCCGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 467 128 0.8061931 0.8607245 0.8334588 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.1324743 0.06237122 0.8340149 0.8685103 NA -0.03505152 NA FALSE NA 1 3.11 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA CAG A,G 8.237e-06 6:138911297 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 synonymous_variant 1.191497 0.97758 0.96297 0.732398 0.7460581 0 0.9993636 TRUE 4.06405e-06 ENSE00002352758_009 ENSE00002352758 009 6 139232381 139232550 - 32 96 42 T G 139232443 2260 108 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTGTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911305 138911306 138911306 exon -31 0.6875 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGACAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 1464 1031 0.9788711 0.9783307 0.9786009 0.8180298 0.85 0.9386673 0.7983533 NA NA 0.04020374 0.1799774 0.8340149 0.8685103 NA 0.1100906 NA FALSE NA 0.996 0.168 rs76082832 upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 rs76082832 1 G:0.0046 G:0.0166 G:0.0014 NA G:0 G:0 G:0 G:0.0118 G:0.0002 TTT T,G 0.001178 6:138911306 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 missense_variant 1.830178 0.95761 0.67339 0.732398 0.9923518 0 0.9993636 TRUE 0.000906254 ENSE00002352758_011 ENSE00002352758 011 6 139232381 139232550 - 32 96 42 T C 139232461 2262 90 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCCGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911323 138911324 138911324 exon 48 0.5 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACGGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 133 993 0.9996902 0.9943443 0.9970172 0.8180298 0.85 0.9386673 0.7983533 NA NA 0.06102284 0.195991 0.8340149 0.8685103 NA 0.1285069 NA FALSE NA 0.997 0.382 rs143615216 upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 rs143615216 1 NA C:0.0009 C:0 CTG T,C 2.471e-05 6:138911324 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 synonymous_variant 0.570222 0.95549 0.87566 0.732398 0.7423737 0 0.9993636 TRUE 8.12566e-06 ENSE00002352758_012 ENSE00002352758 012 6 139232381 139232550 - 32 96 42 G C 139232462 2263 89 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTCTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911324 138911325 138911325 exon 47 0.4895833 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAAGAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 393 49 0.9899499 0.9951996 0.9925747 0.8180298 0.85 0.9386673 0.7983533 NA NA 0.05128256 0.1968463 0.8340149 0.8685103 NA 0.1240644 NA FALSE NA 1 4.774 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA TGT G,C 8.237e-06 6:138911325 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 missense_variant 2.740636 0.98317 0.97987 0.732398 0.9809991 0 0.9993636 TRUE 4.06309e-06 ENSE00002352758_013 ENSE00002352758 013 6 139232381 139232550 - 32 96 42 G A 139232468 2264 83 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGACAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911330 138911331 138911331 exon 41 0.4270833 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGTCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 155 45 0.8873197 0.959743 0.9235314 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.05134766 0.1613898 0.8340149 0.8685103 NA 0.05502105 NA FALSE NA 1 6.395 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA GGC G,A 8.237e-06 6:138911331 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 missense_variant 3.232172 0.98892 0.98829 0.732398 0.9951644 0 0.9993636 TRUE 4.06303e-06 ENSE00002352758_014 ENSE00002352758 014 6 139232381 139232550 - 32 96 42 C T 139232469 2265 82 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGTAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911331 138911332 138911332 exon 40 0.4166667 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTACCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 24 19 0.9345583 0.8259019 0.8802301 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.004109052 0.02754862 0.8340149 0.8685103 NA 0.01171978 NA FALSE NA 1 5.037 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA GCA C,T 8.237e-06 6:138911332 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 missense_variant 4.358005 0.98868 0.98417 0.732398 0.995268 0 0.9993636 TRUE NA ENSE00002352758_017 ENSE00002352758 017 6 139232381 139232550 - 32 96 42 C A 139232487 2268 64 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGAAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911349 138911350 138911350 exon 22 0.2291667 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTTCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 416 36 0.8003873 0.8 0.8001936 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.13828 0.001646724 0.8340149 0.8685103 NA -0.06831666 NA FALSE NA 0.997 0.324 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:138911350 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 missense_variant 1.565836 0.95787 0.83223 0.732398 0.8426465 0 0.9993636 TRUE 4.06402e-06 ENSE00002352758_020 ENSE00002352758 020 6 139232381 139232550 - 32 96 42 G C 139232490 2271 61 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGCATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911352 138911353 138911353 exon 19 0.1979167 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATGCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 592 1026 0.9320452 0.9479497 0.9399974 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.006622166 0.1495964 0.8340149 0.8685103 NA 0.07148711 NA FALSE NA 1 1.502 NA NA NA REPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:138911353 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 missense_variant 1.122846 0.97246 0.94651 0.732398 0.9447452 0 0.9993636 TRUE 4.06557e-06 ENSE00002352758_021 ENSE00002352758 021 6 139232381 139232550 - 32 96 42 A T 139232491 2272 60 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGTTCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911353 138911354 138911354 exon 18 0.1875 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGAACCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 212 2478 0.8403371 0.8960593 0.8681982 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.09833025 0.09770604 0.8340149 0.8685103 NA -0.0003121044 NA FALSE NA 1 2.497 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 rs201226530 1 NA GAT A,T 1.647e-05 6:138911354 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 missense_variant 1.431677 0.97202 0.90384 0.732398 0.5064103 0 0.9993636 TRUE 1.21953e-05 ENSE00002352758_022 ENSE00002352758 022 6 139232381 139232550 - 32 96 42 A C 139232494 2273 57 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCCGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911356 138911357 138911357 exon 15 0.15625 ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCGGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 1247 1930 0.9958708 0.9785756 0.9872232 0.8180298 0.85 0.9386673 0.7983533 NA NA 0.05720348 0.1802223 0.8340149 0.8685103 NA 0.1187129 NA FALSE NA 1 0.993 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA CAG A,C 2.471e-05 6:138911357 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 synonymous_variant 0.361826 0.96447 0.91075 0.732398 0.7186461 0 0.9993636 TRUE 4.06788e-05 ENSE00002352758_024 ENSE00002352758 024 6 139232381 139232550 - 32 96 42 T C 139232516 2275 35 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAACGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911378 138911379 138911379 upstr_intron -8 -0.1666667 ATGTTATGTAGAATTAATAGTGATAAACATATTCGTTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 1887 572 0.9502395 0.9034155 0.9268275 0.8180298 0.85 0.9386673 0.7983533 NA NA 0.01157213 0.1050622 0.8340149 0.8685103 NA 0.05831716 NA FALSE NA 0.046 0.251 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA ATG T,C 1.647e-05 6:138911379 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 splice_region_variant 0.029579 0.18983 0.14228 0.106106 0.6667104 0.25599 0.9993636 TRUE 4.07531e-05 ENSE00002352758_026 ENSE00002352758 026 6 139232381 139232550 - 32 96 42 T A 139232522 2277 29 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATAAGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 138911384 138911385 138911385 upstr_intron -14 -0.3095238 ATGTTATGTAGAATTAATAGTGATAAACTTATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 643 2135 0.9998719 0.9951465 0.9975092 0.8180298 0.85 0.9386673 0.7983533 NA NA 0.0612046 0.1967932 0.8340149 0.8685103 NA 0.1289989 NA FALSE NA 0 -0.497 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA ATG T,A 8.237e-06 6:138911385 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 intron_variant -0.113654 0.16071 0.08339 0.106106 0.2206015 0.216403 0.9993636 TRUE 4.07654e-06 ENSE00002352758_027 ENSE00002352758 027 6 139232381 139232550 - 32 96 42 T C 139232534 2278 17 AAAATTATTATTATAAAAGACATTTTGCATACCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCCTAAAAATGAATATGTTTATCACTACTAATTCTACATAACAT 138911243 138911413 138911396 138911397 138911397 upstr_intron -26 -0.5952381 ATGTTATGTAGAATTAGTAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT mutant NA NA NA NA NA 1353 317 0.0218374 0.001010427 0.01142391 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.9168299 -0.7973428 0.8340149 0.8685103 NA -0.8570864 NA TRUE NA 0 0.097 . upstream_gene_variant MODIFIER REPS1 HGNC 15578 ENST00000526022 1 NA ATT T,C 4.942e-05 6:138911397 REPS1 HGNC Symbol protein_coding 84768 ENSG00000135597 ENSE00003506671 intron_variant 0.171419 0.16339 0.02196 0.106106 0.6605854 0.155388 0.9993636 TRUE 4.52057e-05 ENSE00002352758_BRK ENSE00002352758 BRK 6 139232381 139232550 - 32 96 42 A,G; T,T NA NA NA AAAATTATTATTATAAAAGACATTTTGCATGGCACATTGGCAGGAGCACTAGCAGCTGTCTTTTCTTCAGTTTTACTATCTGTTTTGGCAACTCGAAGAGAACTTGCAGGATCAGAAGCTTTTTCAGCAAAAAAATGAATATGTTTATCACTATTAATTCTACATAACAT 138911243 138911413 NA NA NA NA NA NA ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTTTGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGCCATGCAAAATGTCTTTTATAATAATAATTTT ATGTTATGTAGAATTAATAGTGATAAACATATTCATTTTTAGGCTGAAAAAGCTTCTGATCCTGCAAGTTCTCTTCGAGTTGCCAAAACAGATAGTAAAACTGAAGAAAAGACAGCTGCTAGTGCTCCTGCCAATGTGGTATGCAAAATGTCTTTTATAATAATAATTTT control NA NA NA NA NA 4562 790 0.001501248 0.00121682 0.001359034 0.8180298 0.85 0.9386673 0.7983533 NA NA -0.9371661 -0.7971365 0.8340149 0.8685103 NA -0.8671513 NA TRUE NA NA NA NA NA NA REPS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA REPS1 NA NA NA ENSG00000135597 ENSE00003506671 NA NA NA NA NA NA NA 0.9993636 TRUE NA ENSE00002352760_000 ENSE00002352760 000 17 48275040 48275209 - 53 54 63 NA NA NA NA NA ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 NA NA NA NA NA NA ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG natural 63 115 0.9873617 0.9684795 0.9779206 9279 9026 0.9289618 0.9412873 0.9351245 0.9873617 0.9684795 0.9289618 0.9412873 0 0 0 0 0.9779206 0.9351245 0 0 0 FALSE FALSE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00003586134 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002352760_001 ENSE00002352760 001 17 48275040 48275209 - 53 54 63 G A 48275051 2564 159 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCTTCCATGGGTTG 50197678 50197848 50197689 50197690 50197690 downstr_intron 42 1.807692 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCTTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 835 220 0.9996545 0.9992804 0.9994675 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.07069266 0.05799319 0.9779206 0.9351245 NA 0.06434292 NA FALSE NA 0.005 0.395 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AGG G,A 8.241e-06 17:50197690 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 intron_variant 0.307644 0.23259 0.15264 0.095506 0.4906921 0.0585844 1 TRUE 5.2304e-06 ENSE00002352760_003 ENSE00002352760 003 17 48275040 48275209 - 53 54 63 C A 48275072 2566 138 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAATATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197710 50197711 50197711 downstr_intron 21 1.403846 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAATATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 1003 840 0.9013975 0.9977021 0.9495498 0.9873617 0.9684795 0.9289618 0.9412873 NA NA -0.02756436 0.05641479 0.9779206 0.9351245 NA 0.01442522 NA FALSE NA 0 0.509 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TCT C,A 8.238e-06 17:50197711 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 intron_variant 0.663241 0.33832 0.25876 0.095506 0.7109076 0.881415 1 TRUE 4.76018e-06 ENSE00002352760_004 ENSE00002352760 004 17 48275040 48275209 - 53 54 63 A G 48275087 2567 123 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGCATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197725 50197726 50197726 downstr_intron 6 1.115385 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGCATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 881 469 0.9365692 0.994094 0.9653316 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.007607411 0.05280674 0.9779206 0.9351245 NA 0.03020708 NA FALSE NA 1 4.209 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TAC A,G 2.471e-05 17:50197726 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 splice_region_variant 1.04595 0.91405 0.66874 0.095506 0.859207 0.565172 1 TRUE 2.28373e-05 ENSE00002352760_005 ENSE00002352760 005 17 48275040 48275209 - 53 54 63 A G 48275093 2568 117 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGACGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197731 50197732 50197732 exon -1 1 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGACGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 887 501 0.9996282 0.9905022 0.9950652 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.0706664 0.04921495 0.9779206 0.9351245 NA 0.05994068 NA FALSE NA 0.997 0.801 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA CAT A,G 1.647e-05 17:50197732 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 splice_region_variant 1.486784 0.91708 0.86069 0.706548 0.8888054 0 1 TRUE 8.94807e-06 ENSE00002352760_007 ENSE00002352760 007 17 48275040 48275209 - 53 54 63 G A 48275123 2570 87 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCTCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197761 50197762 50197762 exon 24 0.4444444 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCTCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 363 1634 0.9964535 0.9739506 0.985202 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.06749169 0.03266331 0.9779206 0.9351245 NA 0.0500775 NA FALSE NA 0 -1.077 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGG G,A 8.237e-06 17:50197762 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 synonymous_variant 0.99104 0.89732 0.22036 0.706548 0.6363704 0 1 TRUE NA ENSE00002352760_008 ENSE00002352760 008 17 48275040 48275209 - 53 54 63 A G 48275126 2571 84 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGCCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197764 50197765 50197765 exon 21 0.3888889 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGCCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 29 551 0.9006735 0.9857282 0.9432009 0.9873617 0.9684795 0.9289618 0.9412873 NA NA -0.0282883 0.04444099 0.9779206 0.9351245 NA 0.008076341 NA FALSE NA 0.379 0.276 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GAC A,G 8.237e-06 17:50197765 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 synonymous_variant 0.702652 0.89681 0.77623 0.706548 0.7067621 0 1 TRUE NA ENSE00002352760_009 ENSE00002352760 009 17 48275040 48275209 - 53 54 63 C T 48275130 2572 80 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCAAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197768 50197769 50197769 exon 17 0.3148148 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCAAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 2580 331 0.9990758 0.9995219 0.9992988 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.07011394 0.05823464 0.9779206 0.9351245 NA 0.06417429 NA FALSE NA 1 4.902 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs200142836&COSM3519055&COSM1384183 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 1.647e-05 17:50197769 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 missense_variant 5.033935 0.96829 0.88761 0.706548 0.9983442 0 1 TRUE 2.10185e-05 ENSE00002352760_010 ENSE00002352760 010 17 48275040 48275209 - 53 54 63 T C 48275140 2573 70 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCGTGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197778 50197779 50197779 exon 7 0.1296296 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCGTGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 92 1760 1 0.9993705 0.9996852 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.07103817 0.05808321 0.9779206 0.9351245 NA 0.06456069 NA FALSE NA 0.753 3.369 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 COSM3388010 1 NA ATG T,C 8.237e-06 17:50197779 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 missense_variant 1.369519 0.96164 0.92454 0.706548 0.7930617 0 1 TRUE 4.1308e-06 ENSE00002352760_011 ENSE00002352760 011 17 48275040 48275209 - 53 54 63 G T 48275143 2574 67 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTACCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197781 50197782 50197782 exon 4 0.07407407 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTACCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 175 1785 0.9860406 0.9978098 0.9919252 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.05707875 0.05652254 0.9779206 0.9351245 NA 0.05680065 NA FALSE NA 1 4.457 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGA G,T 8.237e-06 17:50197782 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 missense_variant 3.793281 0.94119 0.93915 0.706548 0.9862375 0 1 TRUE 4.12763e-06 ENSE00002352760_013 ENSE00002352760 013 17 48275040 48275209 - 53 54 63 A G 48275163 2576 47 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCCCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197801 50197802 50197802 upstr_intron -17 -0.2539683 ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCCCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 470 381 0.9968045 0.9064495 0.951627 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.06784269 -0.0348378 0.9779206 0.9351245 NA 0.01650245 NA FALSE NA 0 1.432 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GAG A,G 2.472e-05 17:50197802 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 intron_variant -0.187034 0.20091 0.05799 0.095506 0.5088591 0.118818 1 TRUE 3.27643e-05 ENSE00002352760_014 ENSE00002352760 014 17 48275040 48275209 - 53 54 63 A G 48275190 2577 20 ATCCCAGCCTTCCCCTTCTCTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197828 50197829 50197829 upstr_intron -44 -0.6825397 ATCCCAGCCTTCCCCTTCTCTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 70 2001 0.967849 0.9996647 0.9837568 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.03888721 0.0583774 0.9779206 0.9351245 NA 0.0486323 NA FALSE NA 0 -0.19 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AAA A,G 8.245e-06 17:50197829 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 intron_variant 1.062658 0.36792 0.16698 0.095506 0.8823641 0.584225 1 TRUE 8.16227e-06 ENSE00002352760_015 ENSE00002352760 015 17 48275040 48275209 - 53 54 63 G A 48275192 2578 18 ATCCCAGCCTTCCCCTTTTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197830 50197831 50197831 upstr_intron -46 -0.7142857 ATCCCAGCCTTCCCCTTTTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant NA NA NA NA NA 47 1318 1 1 1 0.9873617 0.9684795 0.9289618 0.9412873 NA NA 0.07103817 0.05871274 0.9779206 0.9351245 NA 0.06487545 NA FALSE NA 0 0.024 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs573978018 1 A:0.0008 A:0 A:0 NA A:0.004 A:0 A:0 AGA G,A 0.000371 17:50197831 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 intron_variant 0.33891 0.27193 0.12574 0.095506 0.7374236 0.0861633 1 TRUE 0.000310204 ENSE00002352760_016 ENSE00002352760 016 17 48275040 48275209 - 53 54 63 G A 48275195 2579 15 ATCCCAGCCTTCCCTTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 50197833 50197834 50197834 upstr_intron -49 -0.7619048 ATCCCAGCCTTCCCTTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG mutant 16 11 0.9328482 0.85 0.8914241 44 1049 1 0.984995 0.9924975 0.9873617 0.9684795 0.9289618 0.9412873 -0.0545135 -0.1184795 0.07103817 0.04370775 0.9779206 0.9351245 -0.08649648 0.05737296 0.1438694 FALSE FALSE 0 -0.323 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs201925597 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0016 A:0 AGG G,A 9.892e-05 17:50197834 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003586134 intron_variant 0.366121 0.26031 0.06117 0.095506 0.6708818 0.0509331 1 TRUE 0.000122373 ENSE00002352760_BRK ENSE00002352760 BRK 17 48275040 48275209 - 53 54 63 A,G; T,T NA NA NA ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTTTGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATCCAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG 50197678 50197848 NA NA NA NA NA NA ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTTTGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATCCAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG ATCCCAGCCTTCCCCTTCTTTTTTTCTTATCCATATTCTAACCACCTCTTCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGTAAGTATCCCCAGCAAGAAGATACCATCTGACCCCATGGCCTCCATGGGTTG control 21 110 0 0 0 1026 1585 0.05203747 0.008429646 0.03023356 0.9873617 0.9684795 0.9289618 0.9412873 -0.9873617 -0.9684795 -0.8769244 -0.9328576 0.9779206 0.9351245 -0.9779206 -0.904891 0.07302957 TRUE TRUE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00003586134 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002353169_000 ENSE00002353169 000 15 57896420 57896589 + 47 87 36 NA NA NA NA NA GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 NA NA NA NA NA NA CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC natural 147 112 0.9727701 0.9952301 0.9840001 4293 5017 0.9840097 0.9936928 0.9888513 0.9727701 0.9952301 0.9840097 0.9936928 0 0 0 0 0.9840001 0.9888513 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003551134 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00002353169_004 ENSE00002353169 004 15 57896420 57896589 + 47 87 36 C T 57896456 1118 37 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAAGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604257 57604258 57604258 upstr_intron -11 -0.212766 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCTTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 433 549 0.9952895 1 0.9976447 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01127974 0.006307213 0.9840001 0.9888513 NA 0.008793474 NA FALSE NA 0 -1.541 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003551134 intron_variant -0.287549 0.06956 0.00408 0.062308 0.5811804 0.0724684 4.676361e-13 FALSE 8.13643e-06 ENSE00002353169_010 ENSE00002353169 010 15 57896420 57896589 + 47 87 36 C T 57896482 1124 63 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAATCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604283 57604284 57604284 exon 16 0.183908 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGATTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 127 267 1 1 1 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01599027 0.006307213 0.9840001 0.9888513 NA 0.01114874 NA FALSE NA 0.992 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003551134 synonymous_variant 1.455281 0.96138 0.54305 0.562547 0.774423 0 0.454891 FALSE 4.0627e-06 ENSE00002353169_029 ENSE00002353169 029 15 57896420 57896589 + 47 87 36 C T 57896563 1143 144 GGAACTTGTTGGGGCTTTGCCTCGGAAATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604364 57604365 57604365 downstr_intron 10 1.285714 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATTTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 43 362 1 0.9991545 0.9995773 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01599027 0.005461718 0.9840001 0.9888513 NA 0.01072599 NA FALSE NA 0 0.342 NA NA NA MYZAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYZAP NA NA NA ENSG00000263155 ENSE00003551134 intron_variant -0.091446 0.17075 0.01688 0.062308 0.4580675 0.0549589 2.213673e-09 FALSE 1.21947e-05 ENSE00002353169_BRK ENSE00002353169 BRK 15 57896420 57896589 + 47 87 36 A,G; T,T NA NA NA GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTGGCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCAAAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 NA NA NA NA NA NA CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTTTGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGCCAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC control NA NA NA NA NA 17 24 0.8 0.8 0.8 0.9727701 0.9952301 0.9840097 0.9936928 NA NA -0.1840097 -0.1936928 0.9840001 0.9888513 NA -0.1888513 NA FALSE NA NA NA NA NA NA MYZAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYZAP NA NA NA ENSG00000263155 ENSE00003551134 NA NA NA NA NA NA NA 2.213673e-09 FALSE NA ENSE00002353193_000 ENSE00002353193 000 2 191848998 191849167 - 38 84 48 NA NA NA NA NA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 NA NA NA NA NA NA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA natural NA NA NA NA NA 1280 1214 0.9859735 0.8236788 0.9048261 NA NA 0.9859735 0.8236788 NA NA 0 0 NA 0.9048261 NA 0 NA FALSE NA NA NA NA NA NA STAT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT1 NA NA NA ENSG00000115415 ENSE00003651802 NA NA NA NA NA NA NA 0.9999943 TRUE NA ENSE00002353193_002 ENSE00002353193 002 2 191848998 191849167 - 38 84 48 G A 191849017 3910 151 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCTGAGTTGGAAAACTTCATTA 190984271 190984441 190984290 190984291 190984291 downstr_intron 19 1.513514 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCTGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 155 371 1 0.9979217 0.9989608 NA NA 0.9859735 0.8236788 NA NA 0.01402651 0.1742429 NA 0.9048261 NA 0.09413471 NA FALSE NA 0 -0.442 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 14/22 1 NA CGG G,A 1.647e-05 2:190984291 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 intron_variant -0.228051 0.21933 0.08528 0.256867 0.4871053 0.0660298 0.9999943 TRUE 8.12625e-06 ENSE00002353193_003 ENSE00002353193 003 2 191848998 191849167 - 38 84 48 A G 191849026 3911 142 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTCTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984299 190984300 190984300 downstr_intron 10 1.27027 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTCTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 524 28 1 1 1 NA NA 0.9859735 0.8236788 NA NA 0.01402651 0.1763212 NA 0.9048261 NA 0.09517387 NA FALSE NA 0 -0.517 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 14/22 rs376263835 1 NA G:0.0005 G:0 AAA A,G 8.236e-06 2:190984300 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 intron_variant 0.72629 0.25062 0.13612 0.256867 0.5652127 0.0660298 0.9999943 TRUE 8.12328e-06 ENSE00002353193_004 ENSE00002353193 004 2 191848998 191849167 - 38 84 48 A C 191849028 3912 140 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACGTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984301 190984302 190984302 downstr_intron 8 1.216216 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACGTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 17 460 1 1 1 NA NA 0.9859735 0.8236788 NA NA 0.01402651 0.1763212 NA 0.9048261 NA 0.09517387 NA FALSE NA 0.007 1.572 rs16833147 splice_region_variant&intron_variant LOW STAT1 HGNC 11362 ENST00000540176 14/22 rs16833147 1 C:0.0030 C:0.0113 C:0 NA C:0 C:0 C:0 C:0.007 C:0 AAG A,C 0.0006589 2:190984302 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 splice_region_variant 0.115124 0.46334 0.24817 0.256867 0.5569706 0.308342 0.9999943 TRUE 0.000527966 ENSE00002353193_006 ENSE00002353193 006 2 191848998 191849167 - 38 84 48 G A 191849041 3914 127 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACTTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984314 190984315 190984315 exon -6 0.9404762 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACTTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 694 86 0.9892272 0.9772501 0.9832387 NA NA 0.9859735 0.8236788 NA NA 0.003253737 0.1535713 NA 0.9048261 NA 0.07841254 NA FALSE NA 1 4.315 . 3_prime_UTR_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 14/23 1 NA AGG G,A 8.236e-06 2:190984315 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 missense_variant 5.990331 0.95974 0.97177 0.706548 0.9973807 0 0.9999943 TRUE 4.06105e-06 ENSE00002353193_007 ENSE00002353193 007 2 191848998 191849167 - 38 84 48 G T 191849042 3915 126 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGAACTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984315 190984316 190984316 exon -7 0.9285714 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGAACTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 681 123 0.9885993 1 0.9942997 NA NA 0.9859735 0.8236788 NA NA 0.002625819 0.1763212 NA 0.9048261 NA 0.08947353 NA FALSE NA 0.998 0.487 rs140351189 3_prime_UTR_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 14/23 rs140351189 1 NA T:0.0002 T:0.0006 GGT G,T 0.0002224 2:190984316 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 missense_variant 1.986129 0.91011 0.82256 0.706548 0.947654 0 0.9999943 TRUE 0.000142135 ENSE00002353193_010 ENSE00002353193 010 2 191848998 191849167 - 38 84 48 T C 191849069 3918 99 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAGTTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984342 190984343 190984343 exon -34 0.6071429 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAGTTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 30 247 1 1 1 NA NA 0.9859735 0.8236788 NA NA 0.01402651 0.1763212 NA 0.9048261 NA 0.09517387 NA FALSE NA 0.825 0.833 rs138091660 3_prime_UTR_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 14/23 rs138091660 1 C:0.0010 C:0 C:0 NA C:0 C:0.005 C:0 C:0.0002 C:0.0014 ATT T,C 0.005189 2:190984343 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 synonymous_variant 0.465519 0.94379 0.42349 0.706548 0.5279403 0 0.9999943 TRUE 0.00647716 ENSE00002353193_012 ENSE00002353193 012 2 191848998 191849167 - 38 84 48 G A 191849108 3920 60 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATTGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984381 190984382 190984382 exon 12 0.1428571 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATTGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 109 1499 1 0.9914369 0.9957185 NA NA 0.9859735 0.8236788 NA NA 0.01402651 0.1677582 NA 0.9048261 NA 0.09089234 NA FALSE NA 0.647 -0.051 . 3_prime_UTR_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 14/23 rs373080372 1 NA A:0 A:0.0001 CGA G,A 8.236e-05 2:190984382 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 synonymous_variant 1.985403 0.91404 0.5136 0.75658 0.8064457 0 0.9999943 TRUE 8.53249e-05 ENSE00002353193_014 ENSE00002353193 014 2 191848998 191849167 - 38 84 48 G A 191849113 3922 55 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTTTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984386 190984387 190984387 exon 7 0.08333333 GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTTTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 90 558 0.9446034 0.9928473 0.9687253 NA NA 0.9859735 0.8236788 NA NA -0.04137013 0.1691685 NA 0.9048261 NA 0.0638992 NA FALSE NA 1 6.403 . 3_prime_UTR_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 14/23 COSM3364456 1 NA AGA G,A 8.237e-06 2:190984387 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 missense_variant 6.071115 0.96432 0.98338 0.75658 0.9986235 0 0.9999943 TRUE 4.06322e-06 ENSE00002353193_017 ENSE00002353193 017 2 191848998 191849167 - 38 84 48 G T 191849147 3925 21 GATCTGTGAATAATTATATTATTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984420 190984421 190984421 upstr_intron -28 -0.5625 GATCTGTGAATAATTATATTATTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 204 456 0.9967269 1 0.9983634 NA NA 0.9859735 0.8236788 NA NA 0.01075338 0.1763212 NA 0.9048261 NA 0.09353731 NA FALSE NA 0 -0.762 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/22 1 NA AGA G,T 3.295e-05 2:190984421 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 intron_variant -0.051525 0.28068 0.12891 0.093781 0.7420937 0.0476449 0.9999943 TRUE 2.05533e-05 ENSE00002353193_018 ENSE00002353193 018 2 191848998 191849167 - 38 84 48 A G 191849151 3926 17 GATCTGTGAATAATTACATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984424 190984425 190984425 upstr_intron -32 -0.6458333 GATCTGTGAATAATTACATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 376 888 1 0.9787755 0.9893877 NA NA 0.9859735 0.8236788 NA NA 0.01402651 0.1550967 NA 0.9048261 NA 0.08456162 NA FALSE NA 0 0.237 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/22 rs374834032 1 NA G:0 G:0.0001 TAT A,G 8.238e-06 2:190984425 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 intron_variant 0.187302 0.28433 0.18931 0.093781 0.7210852 0.0476449 0.9999943 TRUE 8.27212e-06 ENSE00002353193_019 ENSE00002353193 019 2 191848998 191849167 - 38 84 48 T C 191849152 3927 16 GATCTGTGAATAATTGTATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 190984425 190984426 190984426 upstr_intron -33 -0.6666667 GATCTGTGAATAATTGTATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA mutant NA NA NA NA NA 55 1275 1 0.999551 0.9997755 NA NA 0.9859735 0.8236788 NA NA 0.01402651 0.1758723 NA 0.9048261 NA 0.09494938 NA FALSE NA 0 -3.138 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/22 1 NA ATA T,C 1.648e-05 2:190984426 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003651802 intron_variant -0.349707 0.18824 0.08021 0.093781 0.5517793 0.0476449 0.9999943 TRUE 8.2689e-06 ENSE00002353193_BRK ENSE00002353193 BRK 2 191848998 191849167 - 38 84 48 A,G; T,T NA NA NA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCATTGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGCCAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA 190984271 190984441 NA NA NA NA NA NA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCATTGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGCCAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA GATCTGTGAATAATTATATTCTTTTCTTCTTTCCTTTTCTCTTCCAAGGGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGCCAGCCTGGTTTGGTAATTGACCTCGAGGTAAGACTTTTATGGTCCCGAGTTGGAAAACTTCATTA control NA NA NA NA NA 636 353 0.02454822 0 0.01227411 NA NA 0.9859735 0.8236788 NA NA -0.9614253 -0.8236788 NA 0.9048261 NA -0.892552 NA TRUE NA NA NA NA NA NA STAT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT1 NA NA NA ENSG00000115415 ENSE00003651802 NA NA NA NA NA NA NA 0.9999943 TRUE NA ENSE00002353811_000 ENSE00002353811 000 2 112614144 112614313 - 47 66 57 NA NA NA NA NA AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 NA NA NA NA NA NA AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC natural 39 88 0.9911045 0.9613905 0.9762475 5036 2055 0.9832949 0.9875392 0.9854171 0.9911045 0.9613905 0.9832949 0.9875392 0 0 0 0 0.9762475 0.9854171 0 0 0 FALSE FALSE NA NA NA NA NA ANAPC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANAPC1 NA NA NA ENSG00000153107 ENSE00002437929 NA NA NA NA NA NA NA NA NA NA ENSE00002353811_001 ENSE00002353811 001 2 112614144 112614313 - 47 66 57 C T 112614157 2442 157 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAAGACTTCAGGCTGC 111856566 111856736 111856579 111856580 111856580 downstr_intron 34 1.73913 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAAGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 534 86 0.9917288 1 0.9958644 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.00843385 0.0124608 0.9762475 0.9854171 NA 0.01044732 NA FALSE NA 0 -0.551 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 2/2 1 NA CCT C,T 8.242e-06 2:111856580 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 non_coding_transcript_exon_variant 0.368164 0.11929 0.00403 0.156188 0.7703505 0.0448725 NA NA 4.41302e-06 ENSE00002353811_002 ENSE00002353811 002 2 112614144 112614313 - 47 66 57 A C 112614164 2443 150 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCGTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856586 111856587 111856587 downstr_intron 27 1.586957 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCGTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 465 492 1 0.9800025 0.9900013 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01670509 -0.007536687 0.9762475 0.9854171 NA 0.004584203 NA FALSE NA 0.016 1.532 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 2/2 1 NA AAG A,C 8.24e-06 2:111856587 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 non_coding_transcript_exon_variant -0.134131 0.15141 0.08421 0.156188 0.693676 0.0689414 NA NA 4.37518e-06 ENSE00002353811_003 ENSE00002353811 003 2 112614144 112614313 - 47 66 57 G C 112614170 2444 144 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTGATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856592 111856593 111856593 downstr_intron 21 1.456522 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTGATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 366 1276 0.993052 0.8195516 0.9063018 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.009757128 -0.1679876 0.9762475 0.9854171 NA -0.07911526 NA FALSE NA 0 -2.105 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 2/2 1 NA TGA G,C 8.24e-06 2:111856593 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 non_coding_transcript_exon_variant -0.650118 0.11807 0.01046 0.156188 0.4734217 0.0698953 NA NA 4.23944e-06 ENSE00002353811_004 ENSE00002353811 004 2 112614144 112614313 - 47 66 57 C T 112614192 2445 122 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCAGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856614 111856615 111856615 exon -2 0.9848485 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCAGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 1935 53 0.9967369 1 0.9983685 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01344203 0.0124608 0.9762475 0.9854171 NA 0.01295142 NA FALSE NA 1 6.598 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 2/2 1 NA CCG C,T 8.241e-06 2:111856615 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 missense_variant 3.87503 0.98749 0.9912 0.706548 0.9992421 0 NA NA 1.23202e-05 ENSE00002353811_005 ENSE00002353811 005 2 112614144 112614313 - 47 66 57 G A 112614217 2446 97 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACTTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856639 111856640 111856640 exon -27 0.6060606 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACTTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 678 258 0.9996352 1 0.9998176 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01634033 0.0124608 0.9762475 0.9854171 NA 0.01440057 NA FALSE NA 1 0.839 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 2/2 1 NA AGG G,A 8.242e-06 2:111856640 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 synonymous_variant 1.014794 0.94436 0.74325 0.706548 0.7965023 0 NA NA 4.08403e-06 ENSE00002353811_007 ENSE00002353811 007 2 112614144 112614313 - 47 66 57 T C 112614251 2448 63 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATGGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856673 111856674 111856674 exon 6 0.09090909 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATGGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 1214 1096 0.9969673 0.9902152 0.9935912 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01367238 0.002676006 0.9762475 0.9854171 NA 0.008174194 NA FALSE NA 1 2.132 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 2/2 1 NA CTA T,C 8.237e-06 2:111856674 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 missense_variant 1.391655 0.97001 0.88311 0.706548 0.8919109 0 NA NA 4.06894e-06 ENSE00002353811_009 ENSE00002353811 009 2 112614144 112614313 - 47 66 57 T A 112614254 2450 60 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAATATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856676 111856677 111856677 exon 3 0.04545455 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAATATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 267 285 1 0.9998664 0.9999332 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01670509 0.01232715 0.9762475 0.9854171 NA 0.01451612 NA FALSE NA 0.7 -0.23 rs146218010 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ANAPC1 HGNC 19988 ENST00000482177 2/2 rs146218010 1 NA A:0.0034 A:0 TTT T,A 0.0002636 2:111856677 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 missense_variant 0.029803 0.12896 0.17807 0.706548 0.8486612 0 NA NA 0.000248185 ENSE00002353811_010 ENSE00002353811 010 2 112614144 112614313 - 47 66 57 T C 112614256 2451 58 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGGAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856678 111856679 111856679 exon 1 0.01515152 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGGAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 104 887 1 0.9986532 0.9993266 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01670509 0.01111395 0.9762475 0.9854171 NA 0.01390952 NA FALSE NA 1 2.769 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ANAPC1 HGNC 19988 ENST00000482177 2/2 1 NA TTC T,C 8.237e-06 2:111856679 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 missense_variant 0.275122 0.91462 0.78313 0.706548 0.9679785 0 NA NA 8.1369e-06 ENSE00002353811_011 ENSE00002353811 011 2 112614144 112614313 - 47 66 57 A T 112614259 2452 55 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTAAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856681 111856682 111856682 upstr_intron -3 -0.03508772 AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTAAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 788 365 0.977055 0.9995665 0.9883107 0.9911045 0.9613905 0.9832949 0.9875392 NA NA -0.006239914 0.01202726 0.9762475 0.9854171 NA 0.002893671 NA FALSE NA 0.842 1.87 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ANAPC1 HGNC 19988 ENST00000482177 1/1 1 NA TAA A,T 8.237e-06 2:111856682 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 splice_region_variant -0.326144 0.24663 0.57329 0.156188 0.4958029 0.0846481 NA NA 0 ENSE00002353811_012 ENSE00002353811 012 2 112614144 112614313 - 47 66 57 A C 112614280 2453 34 AATCTGTTAATTTGCTCAGATTGGGAAATAAATGTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856702 111856703 111856703 upstr_intron -24 -0.4035088 AATCTGTTAATTTGCTCAGATTGGGAAATAAATGTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 903 955 1 1 1 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01670509 0.0124608 0.9762475 0.9854171 NA 0.01458294 NA FALSE NA 0 -0.85 . intron_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 1/1 1 NA AAA A,C 8.237e-06 2:111856703 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 intron_variant -0.261663 0.15848 0.07479 0.062308 0.6735347 0.0448725 NA NA 4.07325e-06 ENSE00002353811_014 ENSE00002353811 014 2 112614144 112614313 - 47 66 57 T G 112614283 2455 31 AATCTGTTAATTTGCTCAGATTGGGAAATACATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856705 111856706 111856706 upstr_intron -27 -0.4561404 AATCTGTTAATTTGCTCAGATTGGGAAATACATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 1207 87 1 0.9981778 0.9990889 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01670509 0.01063858 0.9762475 0.9854171 NA 0.01367184 NA FALSE NA 0 -0.041 . intron_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 1/1 1 NA TTT T,G 8.237e-06 2:111856706 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 intron_variant -0.078236 0.19092 0.09682 0.062308 0.4868345 0.0448725 NA NA 4.07475e-06 ENSE00002353811_015 ENSE00002353811 015 2 112614144 112614313 - 47 66 57 T C 112614288 2456 26 AATCTGTTAATTTGCTCAGATTGGGGAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 111856710 111856711 111856711 upstr_intron -32 -0.5438596 AATCTGTTAATTTGCTCAGATTGGGGAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC mutant NA NA NA NA NA 571 116 1 1 1 0.9911045 0.9613905 0.9832949 0.9875392 NA NA 0.01670509 0.0124608 0.9762475 0.9854171 NA 0.01458294 NA FALSE NA 0 1.476 rs190612131 intron_variant&non_coding_transcript_variant MODIFIER ANAPC1 HGNC 19988 ENST00000482177 1/1 rs190612131 1 C:0.0036 C:0.0129 C:0.0014 NA C:0 C:0 C:0 C:0.0127 C:0 TTC T,C 0.001087 2:111856711 ANAPC1 HGNC Symbol protein_coding 273051 ENSG00000153107 ENSE00002437929 intron_variant 0.040891 0.21562 0.23886 0.062308 0.4852959 0.0448725 NA NA 0.000778213 ENSE00002353811_BRK ENSE00002353811 BRK 2 112614144 112614313 - 47 66 57 A,G; T,T NA NA NA AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTTTAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGCCAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC 111856566 111856736 NA NA NA NA NA NA AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTTTAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGCCAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC AATCTGTTAATTTGCTCAGATTGGGAAATAAATTTTTTGTCTTTTTTGTTTTTTTAGAAAATAGACACCATGCTGGTCTTGGAAGGCAGTGGAAACCTGGTGCTATACACAGGAGTGGTTCGGGTAAGCAATAAGTAGCACTTCATGCCTTTAGTAGGACTTCAGGCTGC control 150 171 0 0 0 447 410 0.009577022 0.002471169 0.006024096 0.9911045 0.9613905 0.9832949 0.9875392 -0.9911045 -0.9613905 -0.9737179 -0.985068 0.9762475 0.9854171 -0.9762475 -0.979393 0.003145457 TRUE TRUE NA NA NA NA NA ANAPC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANAPC1 NA NA NA ENSG00000153107 ENSE00002437929 NA NA NA NA NA NA NA NA NA NA ENSE00002353832_000 ENSE00002353832 000 3 184017577 184017746 + 62 57 51 NA NA NA NA NA AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 NA NA NA NA NA NA AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT natural 33 40 0.9974504 0.9964403 0.9969453 2409 2139 0.9561192 0.9932158 0.9746675 0.9974504 0.9964403 0.9561192 0.9932158 0 0 0 0 0.9969453 0.9746675 0 0 0 FALSE FALSE NA NA NA NA NA PSMD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD2 NA NA NA ENSG00000175166 ENSE00003662724 NA NA NA NA NA NA NA 0.9999971 TRUE NA ENSE00002353832_001 ENSE00002353832 001 3 184017577 184017746 + 62 57 51 G T 184017598 3786 22 AGTGGGAGGAGGACGTCTTTGTGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299809 184299810 184299810 upstr_intron -41 -0.6451613 AGTGGGAGGAGGACGTCTTTGTGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 555 47 0.8814471 1 0.9407236 0.9974504 0.9964403 0.9561192 0.9932158 NA NA -0.07467212 0.006784238 0.9969453 0.9746675 NA -0.03394394 NA FALSE NA 0.21 1.069 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1/5 1 NA GGG G,T 8.236e-06 3:184299810 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 non_coding_transcript_exon_variant 1.641142 0.28303 0.26564 0.075627 0.8284276 0.274003 0.9999971 TRUE 4.06534e-06 ENSE00002353832_002 ENSE00002353832 002 3 184017577 184017746 + 62 57 51 C A 184017603 3787 27 AGTGGGAGGAGGACGTCTTTGGGATTACTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299814 184299815 184299815 upstr_intron -36 -0.5645161 AGTGGGAGGAGGACGTCTTTGGGATTACTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 193 478 1 0.9992802 0.9996401 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 0.006064453 0.9969453 0.9746675 NA 0.02497261 NA FALSE NA 0 -0.247 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1/5 1 NA TCC C,A 8.236e-06 3:184299815 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 non_coding_transcript_exon_variant 1.26066 0.45028 0.17096 0.119682 0.7739979 0.29125 0.9999971 TRUE 4.06488e-06 ENSE00002353832_003 ENSE00002353832 003 3 184017577 184017746 + 62 57 51 T A 184017608 3788 32 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCACTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299819 184299820 184299820 upstr_intron -31 -0.483871 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCACTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 184 2118 0.992418 0.9888973 0.9906577 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.03629875 -0.004318428 0.9969453 0.9746675 NA 0.01599016 NA FALSE NA 0 0.073 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1/5 rs560237306 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 CTC T,A 1.647e-05 3:184299820 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 non_coding_transcript_exon_variant 1.163823 0.49689 0.12278 0.12324 0.8587243 0.390365 0.9999971 TRUE 8.12724e-06 ENSE00002353832_004 ENSE00002353832 004 3 184017577 184017746 + 62 57 51 C G 184017609 3789 33 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTGTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299820 184299821 184299821 upstr_intron -30 -0.4677419 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTGTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 666 936 0.9969349 1 0.9984674 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04081564 0.006784238 0.9969453 0.9746675 NA 0.02379994 NA FALSE NA 0 -0.344 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1/5 rs564528927 1 NA TCT C,G 4.942e-05 3:184299821 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 non_coding_transcript_exon_variant 1.047978 0.45824 0.08728 0.12324 0.7221224 0.383238 0.9999971 TRUE 3.65652e-05 ENSE00002353832_008 ENSE00002353832 008 3 184017577 184017746 + 62 57 51 A C 184017630 3793 54 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCACCCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299841 184299842 184299842 upstr_intron -9 -0.1290323 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCACCCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 266 70 1 0.9977339 0.998867 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 0.004518156 0.9969453 0.9746675 NA 0.02419947 NA FALSE NA 0 1.651 NA NA NA PSMD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:184299842 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 non_coding_transcript_exon_variant 1.108291 0.31346 0.17294 0.12324 0.7068784 0.462031 0.9999971 TRUE 2.84301e-05 ENSE00002353832_011 ENSE00002353832 011 3 184017577 184017746 + 62 57 51 C T 184017657 3796 81 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGTTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299868 184299869 184299869 exon 19 0.3333333 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGTTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 900 1484 0.9992661 0.9962986 0.9977824 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04314685 0.003082872 0.9969453 0.9746675 NA 0.02311486 NA FALSE NA 1 2.552 . missense_variant MODERATE PSMD2 HGNC 9559 ENST00000417952 2/6 1 deleterious(0.01) unknown(0) NA GCT C,T 1.647e-05 3:184299869 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 missense_variant 6.793759 0.96413 0.78069 0.627647 0.9986961 0 0.9999971 TRUE 8.12137e-06 ENSE00002353832_012 ENSE00002353832 012 3 184017577 184017746 + 62 57 51 C G 184017678 3797 102 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGGTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299889 184299890 184299890 exon -18 0.7017544 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGGTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 618 140 0.9966972 1 0.9983486 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04057797 0.006784238 0.9969453 0.9746675 NA 0.02368111 NA FALSE NA 1 4.145 . missense_variant MODERATE PSMD2 HGNC 9559 ENST00000417952 2/6 1 tolerated(0.06) unknown(0) NA GCT C,G 2.471e-05 3:184299890 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 missense_variant 4.601113 0.96589 0.87462 0.627647 0.9979142 0 0.9999971 TRUE 1.62427e-05 ENSE00002353832_013 ENSE00002353832 013 3 184017577 184017746 + 62 57 51 C T 184017680 3798 104 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTTGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299891 184299892 184299892 exon -16 0.7368421 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTTGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 738 1063 0.999441 1 0.9997205 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.0433218 0.006784238 0.9969453 0.9746675 NA 0.02505302 NA FALSE NA 1 0.629 . synonymous_variant LOW PSMD2 HGNC 9559 ENST00000417952 2/6 1 NA TCG C,T 8.236e-06 3:184299892 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 synonymous_variant 2.808096 0.93836 0.58265 0.627647 0.9113973 0 0.9999971 TRUE 4.06068e-06 ENSE00002353832_014 ENSE00002353832 014 3 184017577 184017746 + 62 57 51 G C 184017681 3799 105 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCCTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299892 184299893 184299893 exon -15 0.754386 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCCTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 523 60 0.9474636 1 0.9737318 0.9974504 0.9964403 0.9561192 0.9932158 NA NA -0.008655576 0.006784238 0.9969453 0.9746675 NA -0.0009356689 NA FALSE NA 1 8.96 . missense_variant MODERATE PSMD2 HGNC 9559 ENST00000417952 2/6 1 deleterious(0) unknown(0) NA CGT G,C 1.647e-05 3:184299893 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 missense_variant 5.21105 0.97632 0.96098 0.627647 0.9980961 0 0.9999971 TRUE 8.12137e-06 ENSE00002353832_016 ENSE00002353832 016 3 184017577 184017746 + 62 57 51 G A 184017694 3801 118 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGAGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299905 184299906 184299906 exon -2 0.9824561 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGAGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 200 825 1 0.995759 0.9978795 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 0.002543199 0.9969453 0.9746675 NA 0.02321199 NA FALSE NA 1 7.127 . missense_variant&splice_region_variant MODERATE PSMD2 HGNC 9559 ENST00000417952 2/6 rs376597661 1 tolerated(0.57) unknown(0) NA A:0.0005 A:0 GGG G,A 3.295e-05 3:184299906 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 missense_variant 2.742579 0.97179 0.94612 0.627647 0.9838334 0 0.9999971 TRUE 8.12117e-06 ENSE00002353832_017 ENSE00002353832 017 3 184017577 184017746 + 62 57 51 G A 184017698 3802 122 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTAAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299909 184299910 184299910 downstr_intron 3 1.06 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTAAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 56 808 1 0.9964367 0.9982183 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 0.003220899 0.9969453 0.9746675 NA 0.02355084 NA FALSE NA 1 1.379 . splice_region_variant&intron_variant LOW PSMD2 HGNC 9559 ENST00000417952 2/5 1 NA TGA G,A 8.236e-06 3:184299910 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 splice_region_variant 2.171771 0.93882 0.77575 0.12189 0.9012542 0.904997 0.9999971 TRUE 8.12137e-06 ENSE00002353832_019 ENSE00002353832 019 3 184017577 184017746 + 62 57 51 A G 184017706 3804 130 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGGTGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299917 184299918 184299918 downstr_intron 11 1.22 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGGTGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 397 22 0.9988541 1 0.9994271 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04273489 0.006784238 0.9969453 0.9746675 NA 0.02475956 NA FALSE NA 0 -0.675 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 1 NA GAT A,G 4.118e-05 3:184299918 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 1.113211 0.23458 0.08244 0.078958 0.7657307 0.0805529 0.9999971 TRUE 2.84248e-05 ENSE00002353832_020 ENSE00002353832 020 3 184017577 184017746 + 62 57 51 T G 184017707 3805 131 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGAGGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299918 184299919 184299919 downstr_intron 12 1.24 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGAGGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 22 318 1 0.9904311 0.9952155 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 -0.002784699 0.9969453 0.9746675 NA 0.02054804 NA FALSE NA 0 -0.353 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 1 NA ATG T,G 8.236e-06 3:184299919 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 0.752162 0.1979 0.09459 0.078958 0.690105 0.0805529 0.9999971 TRUE 4.06065e-06 ENSE00002353832_021 ENSE00002353832 021 3 184017577 184017746 + 62 57 51 C T 184017713 3806 137 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAATATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299924 184299925 184299925 downstr_intron 18 1.36 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAATATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 162 143 0.9974316 0.9921827 0.9948072 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.0413124 -0.001033036 0.9969453 0.9746675 NA 0.02013968 NA FALSE NA 0.002 0.51 rs114623303 intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 rs114623303 1 T:0.0010 T:0.003 T:0.0014 NA T:0 T:0 T:0 T:0.0082 T:0 ACA C,T 0.0006671 3:184299925 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 1.1206 0.23081 0.0351 0.078958 0.8228079 0.08985 0.9999971 TRUE 0.000503553 ENSE00002353832_022 ENSE00002353832 022 3 184017577 184017746 + 62 57 51 A G 184017714 3807 138 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACGTGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299925 184299926 184299926 downstr_intron 19 1.38 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACGTGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 429 35 1 1 1 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 0.006784238 0.9969453 0.9746675 NA 0.02533251 NA FALSE NA 0 -1.234 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 1 NA CAT A,G 1.647e-05 3:184299926 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 0.583276 0.2286 0.04799 0.078958 0.7168531 0.08985 0.9999971 TRUE 8.12183e-06 ENSE00002353832_023 ENSE00002353832 023 3 184017577 184017746 + 62 57 51 G A 184017716 3808 140 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATAATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299927 184299928 184299928 downstr_intron 21 1.42 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATAATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 56 671 1 0.9830467 0.9915233 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 -0.01016909 0.9969453 0.9746675 NA 0.01685584 NA FALSE NA 0 0.568 rs188070670 intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 rs188070670 1 A:0.0076 A:0.0015 A:0.0058 NA A:0 A:0.008 A:0.0245 A:0.0039 A:0.0117 TGA G,A 0.009958 3:184299928 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 1.01262 0.23766 0.11937 0.078958 0.8308816 0.08985 0.9999971 TRUE 0.0100391 ENSE00002353832_024 ENSE00002353832 024 3 184017577 184017746 + 62 57 51 T G 184017719 3809 143 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATGCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299930 184299931 184299931 downstr_intron 24 1.48 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATGCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 542 948 1 0.9979672 0.9989836 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 0.004751421 0.9969453 0.9746675 NA 0.0243161 NA FALSE NA 0 -1.326 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 1 NA TTC T,G 8.236e-06 3:184299931 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 0.732142 0.18916 0.04589 0.078958 0.6611084 0.08985 0.9999971 TRUE 4.06088e-06 ENSE00002353832_025 ENSE00002353832 025 3 184017577 184017746 + 62 57 51 C T 184017720 3810 144 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTTGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 184299931 184299932 184299932 downstr_intron 25 1.5 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTTGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 498 39 0.8448025 0.9949105 0.9198565 0.9974504 0.9964403 0.9561192 0.9932158 NA NA -0.1113167 0.001694781 0.9969453 0.9746675 NA -0.05481098 NA FALSE NA 0 -1.636 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 1 NA TCG C,T 8.236e-06 3:184299932 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 0.690239 0.23793 0.04702 0.078958 0.8393156 0.08985 0.9999971 TRUE 1.21832e-05 ENSE00002353832_026 ENSE00002353832 026 3 184017577 184017746 + 62 57 51 G C 184017728 3811 152 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATCTTTGGATCTTTCCCACTT 184299788 184299958 184299939 184299940 184299940 downstr_intron 33 1.66 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATCTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 16 21 1 1 1 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.04388078 0.006784238 0.9969453 0.9746675 NA 0.02533251 NA FALSE NA 0 -1.486 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 1 NA TGT G,C 8.236e-06 3:184299940 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 0.160343 0.22139 0.0566 0.078958 0.6797513 0.08985 0.9999971 TRUE 4.06118e-06 ENSE00002353832_028 ENSE00002353832 028 3 184017577 184017746 + 62 57 51 C A 184017736 3813 160 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATATTTCCCACTT 184299788 184299958 184299947 184299948 184299948 downstr_intron 41 1.82 AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATATTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT mutant NA NA NA NA NA 80 168 0.9723754 1 0.9861877 0.9974504 0.9964403 0.9561192 0.9932158 NA NA 0.01625617 0.006784238 0.9969453 0.9746675 NA 0.0115202 NA FALSE NA 0 -0.615 . intron_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 2/5 1 NA TCT C,A 8.236e-06 3:184299948 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003662724 intron_variant 1.63767 0.25211 0.11578 0.078958 0.8306473 0.0715242 0.9999971 TRUE 4.06227e-06 ENSE00002353832_BRK ENSE00002353832 BRK 3 184017577 184017746 + 62 57 51 A,G; T,T NA NA NA AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCTTTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGCCGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT 184299788 184299958 NA NA NA NA NA NA AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCTTTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGCCGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT AGTGGGAGGAGGACGTCTTTGGGATTCCTTCTCTTCATGAGCTGCTTCTCCCAACCCTCCAGTCTGAAGAGGATAAACAGCTTCAAGATGAACTGGAGATGCTCGTGGAACGACTAGGGGTGAGTCACGATGTTAACATGATTCGGTGCATGTTTGGATCTTTCCCACTT control 578 744 0.00227833 0.0008741989 0.001576264 1214 614 0.001237918 0.05263797 0.02693794 0.9974504 0.9964403 0.9561192 0.9932158 -0.995172 -0.9955661 -0.9548813 -0.9405778 0.9969453 0.9746675 -0.995369 -0.9477295 0.04763949 TRUE TRUE NA NA NA NA NA PSMD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD2 NA NA NA ENSG00000175166 ENSE00003662724 NA NA NA NA NA NA NA 0.9999971 TRUE NA ENSE00002353841_000 ENSE00002353841 000 5 179298417 179298586 - 45 69 56 NA NA NA NA NA CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC 179871416 179871586 NA NA NA NA NA NA CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC natural 30 46 0.9084329 0.85 0.8792165 719 381 0.8223818 0.8929381 0.8576599 0.9084329 0.85 0.8223818 0.8929381 0 0 0 0 0.8792165 0.8576599 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBC1D9B NA NA NA ENSG00000197226 ENSE00003619982 NA NA NA NA NA NA NA 1.494108e-07 FALSE NA ENSE00002353841_006 ENSE00002353841 006 5 179298417 179298586 - 45 69 56 G A 179298435 2551 152 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACTCGTTCCTAGCTTCCTAGC 179871416 179871586 179871434 179871435 179871435 downstr_intron 27 1.613636 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACTCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC mutant NA NA NA NA NA 328 438 0.8236122 0.8005771 0.8120946 0.9084329 0.85 0.8223818 0.8929381 NA NA 0.001230389 -0.09236096 0.8792165 0.8576599 NA -0.04556528 NA FALSE NA 0.005 0.09 NA NA NA TBC1D9B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:179871435 TBC1D9B HGNC Symbol protein_coding 45793 ENSG00000197226 ENSE00003619982 intron_variant 1.132707 0.1972 0.07594 0.256867 0.7360742 0.138442 1.494108e-07 FALSE 2.90425e-05 ENSE00002353841_007 ENSE00002353841 007 5 179298417 179298586 - 45 69 56 C A 179298438 2552 149 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGTACCCGTTCCTAGCTTCCTAGC 179871416 179871586 179871437 179871438 179871438 downstr_intron 24 1.545455 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGTACCCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC mutant NA NA NA NA NA 210 40 0.8 0.8 0.8 0.9084329 0.85 0.8223818 0.8929381 NA NA -0.0223818 -0.09293806 0.8792165 0.8576599 NA -0.05765993 NA FALSE NA 0 -0.322 . intron_variant MODIFIER TBC1D9B HGNC 29097 ENST00000355235 15/20 1 NA TCC C,A 6.59e-05 5:179871438 TBC1D9B HGNC Symbol protein_coding 45793 ENSG00000197226 ENSE00003619982 intron_variant 1.733696 0.18466 0.09686 0.256867 0.8356569 0.174891 1.494108e-07 FALSE 3.72674e-05 ENSE00002353841_008 ENSE00002353841 008 5 179298417 179298586 - 45 69 56 G T 179298441 2553 146 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGAAGGACCCGTTCCTAGCTTCCTAGC 179871416 179871586 179871440 179871441 179871441 downstr_intron 21 1.477273 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGAAGGACCCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC mutant NA NA NA NA NA 917 25 0.9623626 1 0.9811813 0.9084329 0.85 0.8223818 0.8929381 NA NA 0.1399808 0.1070619 0.8792165 0.8576599 NA 0.1235214 NA FALSE NA 0.039 2.284 . intron_variant MODIFIER TBC1D9B HGNC 29097 ENST00000355235 15/20 rs377564483 1 NA T:0.0002 T:0 TGC G,T 4.119e-05 5:179871441 TBC1D9B HGNC Symbol protein_coding 45793 ENSG00000197226 ENSE00003619982 intron_variant 1.926568 0.28381 0.45713 0.256867 0.9099131 0.2362 1.494108e-07 FALSE 3.71658e-05 ENSE00002353841_013 ENSE00002353841 013 5 179298417 179298586 - 45 69 56 T G 179298473 2558 114 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACCTGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC 179871416 179871586 179871472 179871473 179871473 exon -12 0.8405797 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACCTGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC mutant NA NA NA NA NA 605 1165 0.9881168 0.9898554 0.9889861 0.9084329 0.85 0.8223818 0.8929381 NA NA 0.165735 0.09691733 0.8792165 0.8576599 NA 0.1313262 NA FALSE NA 0.932 -0.136 . missense_variant MODERATE TBC1D9B HGNC 29097 ENST00000355235 15/21 1 tolerated(0.74) benign(0.006) NA ATG T,G 1.647e-05 5:179871473 TBC1D9B HGNC Symbol protein_coding 45793 ENSG00000197226 ENSE00003619982 start_lost 1.691002 0.97266 0.83608 0.732398 0.9212275 0 1.494108e-07 FALSE 1.63424e-05 ENSE00002353841_016 ENSE00002353841 016 5 179298417 179298586 - 45 69 56 C T 179298491 2561 96 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAAAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC 179871416 179871586 179871490 179871491 179871491 exon -30 0.5797101 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAAAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC mutant NA NA NA NA NA 78 307 0 0.08306236 0.04153118 0.9084329 0.85 0.8223818 0.8929381 NA NA -0.8223818 -0.8098757 0.8792165 0.8576599 NA -0.8161287 NA TRUE NA 1 5.933 rs11545788 missense_variant MODERATE TBC1D9B HGNC 29097 ENST00000355235 15/21 rs11545788 1 deleterious(0.01) possibly_damaging(0.841) T:0.0018 T:0 T:0.0014 NA T:0 T:0.007 T:0.001 T:0.0014 T:0.0037 TCT C,T 0.002331 5:179871491 TBC1D9B HGNC Symbol protein_coding 45793 ENSG00000197226 ENSE00003619982 missense_variant 7.443916 0.99448 0.99305 0.732398 0.9993684 0 1.494108e-07 FALSE 0.0025425 ENSE00002353841_019 ENSE00002353841 019 5 179298417 179298586 - 45 69 56 C T 179298526 2564 61 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCAAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC 179871416 179871586 179871525 179871526 179871526 exon 5 0.07246377 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCAAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC mutant NA NA NA NA NA 168 70 0.8 0.8020637 0.8010318 0.9084329 0.85 0.8223818 0.8929381 NA NA -0.0223818 -0.09087437 0.8792165 0.8576599 NA -0.05662809 NA FALSE NA 1 7.468 rs145113784 missense_variant MODERATE TBC1D9B HGNC 29097 ENST00000355235 15/21 rs145113784 1 deleterious(0) probably_damaging(1) T:0.0012 T:0.0008 T:0 NA T:0 T:0.005 T:0 T:0.0005 T:0.0028 TCG C,T 0.003962 5:179871526 TBC1D9B HGNC Symbol protein_coding 45793 ENSG00000197226 ENSE00003619982 missense_variant 8.083525 0.99447 0.99707 0.732398 0.9995327 0 1.494108e-07 FALSE 0.00329949 ENSE00002353841_020 ENSE00002353841 020 5 179298417 179298586 - 45 69 56 G C 179298537 2565 50 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCGTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC 179871416 179871586 179871536 179871537 179871537 upstr_intron -7 -0.1071429 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCGTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC mutant NA NA NA NA NA 127 470 0.8 0.872608 0.836304 0.9084329 0.85 0.8223818 0.8929381 NA NA -0.0223818 -0.02033002 0.8792165 0.8576599 NA -0.02135591 NA FALSE NA 0.155 0.351 . splice_region_variant&intron_variant LOW TBC1D9B HGNC 29097 ENST00000355235 14/20 1 NA AGG G,C 8.237e-06 5:179871537 TBC1D9B HGNC Symbol protein_coding 45793 ENSG00000197226 ENSE00003619982 splice_region_variant 1.130697 0.29838 0.15684 0.256867 0.7094203 0.421233 1.494108e-07 FALSE 8.20466e-06 ENSE00002353841_023 ENSE00002353841 023 5 179298417 179298586 - 45 69 56 G A 179298550 2568 37 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCTTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC 179871416 179871586 179871549 179871550 179871550 upstr_intron -20 -0.3392857 CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCTTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC CTTCTGTGCCAGGAGCTTGTGATCCAGCTATATACCCTGTTTCTCCTTCCTTCTAGGTCCGAGCTATACCTGTGGACATTGGTTTCTCCATTGAAGAGCTGGAGGACCTTTACATGGTGTTTAAGGTGACAGCTCAGAGCCAGGGCAGGACCCGTTCCTAGCTTCCTAGC mutant NA NA NA NA NA 143 37 0.9690188 0.9946321 0.9818254 0.9084329 0.85 0.8223818 0.8929381 NA NA 0.146637 0.101694 0.8792165 0.8576599 NA 0.1241655 NA FALSE NA 0 1.435 . intron_variant MODIFIER TBC1D9B HGNC 29097 ENST00000355235 14/20 rs417506 1 NA AGG G,A 8.238e-06 5:179871550 TBC1D9B HGNC Symbol protein_coding 45793 ENSG00000197226 ENSE00003619982 non_coding_transcript_exon_variant 0.532602 0.25344 0.1628 0.256867 0.6637561 0.0580285 1.494108e-07 FALSE 4.13121e-06 ENSE00002354222_000 ENSE00002354222 000 12 105622873 105623042 - 30 99 41 NA NA NA NA NA ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 NA NA NA NA NA NA ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC natural NA NA NA NA NA 2279 949 0.85733 0.7398603 0.7985951 NA NA 0.85733 0.7398603 NA NA 0 0 NA 0.7985951 NA 0 NA FALSE NA NA NA NA NA NA APPL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APPL2 NA NA NA ENSG00000136044 ENSE00003501040 NA NA NA NA NA NA NA 3.52823e-09 FALSE NA ENSE00002354222_002 ENSE00002354222 002 12 105622873 105623042 - 30 99 41 A G 105622899 3065 144 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTACGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229120 105229121 105229121 downstr_intron 4 1.137931 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTACGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 627 117 1 0.9996741 0.999837 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2598138 NA 0.7985951 NA 0.2012419 NA FALSE NA 0 -3.235 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW APPL2 HGNC 18242 ENST00000547809 2/17 1 NA CAT A,G 8.237e-06 12:105229121 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 splice_region_variant 0.096194 0.16875 0.01382 0.074898 0.4156179 0.364771 3.52823e-09 FALSE 4.11309e-06 ENSE00002354222_003 ENSE00002354222 003 12 105622873 105623042 - 30 99 41 T C 105622913 3066 130 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTGTGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229134 105229135 105229135 exon -11 0.8989899 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTGTGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 516 83 0.9890991 1 0.9945496 NA NA 0.85733 0.7398603 NA NA 0.1317691 0.2601397 NA 0.7985951 NA 0.1959544 NA FALSE NA 1 4.579 rs150695109 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 rs150695109 1 C:0.0006 C:0 C:0.0014 NA C:0.001 C:0.001 C:0 C:0 C:0.0002 ATA T,C 0.0001565 12:105229135 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 5.584124 0.98199 0.90465 0.706298 0.9981126 0 3.52823e-09 FALSE 0.000171584 ENSE00002354222_004 ENSE00002354222 004 12 105622873 105623042 - 30 99 41 C T 105622917 3067 126 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCATCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229138 105229139 105229139 exon -15 0.8585859 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCATCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 611 299 0.9965912 0.9998726 0.9982319 NA NA 0.85733 0.7398603 NA NA 0.1392612 0.2600123 NA 0.7985951 NA 0.1996368 NA FALSE NA 1 4.307 NA NA NA APPL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:105229139 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 2.993961 0.98992 0.92684 0.706298 0.9982215 0 3.52823e-09 FALSE 0.000420649 ENSE00002354222_008 ENSE00002354222 008 12 105622873 105623042 - 30 99 41 G A 105622920 3071 123 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGTGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229141 105229142 105229142 exon -18 0.8282828 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGTGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 108 961 1 0.9515648 0.9757824 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2117045 NA 0.7985951 NA 0.1771872 NA FALSE NA 1 4.507 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA CGC G,A 2.471e-05 12:105229142 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 7.902064 0.98966 0.9435 0.706298 0.9994317 0 3.52823e-09 FALSE 1.63297e-05 ENSE00002354222_009 ENSE00002354222 009 12 105622873 105623042 - 30 99 41 T C 105622922 3072 121 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCGGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229143 105229144 105229144 exon -20 0.8080808 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCGGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 322 456 0.994103 0.9987382 0.9964206 NA NA 0.85733 0.7398603 NA NA 0.136773 0.2588779 NA 0.7985951 NA 0.1978255 NA FALSE NA 1 7.354 rs143947108 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 rs143947108 1 NA C:0.0002 C:0 CTG T,C 8.236e-06 12:105229144 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 4.518577 0.98714 0.96436 0.706298 0.9978609 0 3.52823e-09 FALSE 4.07943e-06 ENSE00002354222_010 ENSE00002354222 010 12 105622873 105623042 - 30 99 41 T C 105622926 3073 117 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAGTGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229147 105229148 105229148 exon -24 0.7676768 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAGTGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 197 139 1 1 1 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2601397 NA 0.7985951 NA 0.2014049 NA FALSE NA 1 5.617 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 rs201895822 1 NA ATT T,C 5.765e-05 12:105229148 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 start_lost 4.595023 0.98629 0.94054 0.706298 0.992011 0 3.52823e-09 FALSE 3.26214e-05 ENSE00002354222_011 ENSE00002354222 011 12 105622873 105623042 - 30 99 41 T C 105622931 3074 112 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCGGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229152 105229153 105229153 exon -29 0.7171717 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCGGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 365 292 1 1 1 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2601397 NA 0.7985951 NA 0.2014049 NA FALSE NA 1 7.354 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA CTG T,C 1.647e-05 12:105229153 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 4.597477 0.99195 0.97078 0.706298 0.9985358 0 3.52823e-09 FALSE 1.22222e-05 ENSE00002354222_012 ENSE00002354222 012 12 105622873 105623042 - 30 99 41 G A 105622935 3075 108 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGTTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229156 105229157 105229157 exon -33 0.6767677 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGTTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 646 535 1 0.9982743 0.9991371 NA NA 0.85733 0.7398603 NA NA 0.14267 0.258414 NA 0.7985951 NA 0.200542 NA FALSE NA 1 7.189 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA AGC G,A 8.236e-06 12:105229157 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 4.575498 0.99408 0.97222 0.706298 0.9978075 0 3.52823e-09 FALSE 4.07159e-06 ENSE00002354222_015 ENSE00002354222 015 12 105622873 105623042 - 30 99 41 A G 105622948 3078 95 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTACACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229169 105229170 105229170 exon -46 0.5454545 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTACACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 383 598 0.9946762 0.981834 0.9882551 NA NA 0.85733 0.7398603 NA NA 0.1373462 0.2419737 NA 0.7985951 NA 0.1896599 NA FALSE NA 0.996 0.525 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA TAT A,G 8.236e-06 12:105229170 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 synonymous_variant -0.123085 0.95096 0.31715 0.706298 0.3775481 0 3.52823e-09 FALSE 4.06871e-06 ENSE00002354222_016 ENSE00002354222 016 12 105622873 105623042 - 30 99 41 A C 105622950 3079 93 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACGATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229171 105229172 105229172 exon -48 0.5252525 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACGATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 234 1083 1 0.9970681 0.998534 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2572078 NA 0.7985951 NA 0.1999389 NA FALSE NA 1 6.73 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 rs200398672 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TAG A,C 8.236e-06 12:105229172 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 5.136938 0.98712 0.9683 0.706298 0.9890455 0 3.52823e-09 FALSE 4.06901e-06 ENSE00002354222_017 ENSE00002354222 017 12 105622873 105623042 - 30 99 41 T C 105622952 3080 91 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGGCTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229173 105229174 105229174 exon -50 0.5050505 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGGCTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 338 378 0.9995463 1 0.9997732 NA NA 0.85733 0.7398603 NA NA 0.1422163 0.2601397 NA 0.7985951 NA 0.201178 NA FALSE NA 1 4.551 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA GTC T,C 8.236e-06 12:105229174 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 2.576252 0.9669 0.8982 0.706298 0.9912344 0 3.52823e-09 FALSE 4.06898e-06 ENSE00002354222_018 ENSE00002354222 018 12 105622873 105623042 - 30 99 41 A G 105622958 3081 85 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCCCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229179 105229180 105229180 exon 44 0.4444444 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCCCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 57 340 1 0.9931081 0.996554 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2532478 NA 0.7985951 NA 0.1979589 NA FALSE NA 1 8.549 rs139884004 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA GAG A,G 8.236e-06 12:105229180 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 6.628081 0.99213 0.98196 0.706298 0.9990411 0 3.52823e-09 FALSE 4.06981e-06 ENSE00002354222_019 ENSE00002354222 019 12 105622873 105623042 - 30 99 41 G T 105622960 3082 83 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACACTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229181 105229182 105229182 exon 42 0.4242424 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACACTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 567 514 0.9896518 0.9990215 0.9943366 NA NA 0.85733 0.7398603 NA NA 0.1323218 0.2591612 NA 0.7985951 NA 0.1957415 NA FALSE NA 0.981 -0.001 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA GGG G,T 8.236e-06 12:105229182 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 synonymous_variant 0.833142 0.96842 0.6867 0.706298 0.5783051 0 3.52823e-09 FALSE 4.07219e-06 ENSE00002354222_023 ENSE00002354222 023 12 105622873 105623042 - 30 99 41 C T 105622983 3086 60 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCATGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229204 105229205 105229205 exon 19 0.1919192 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCATGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 950 724 1 0.9985145 0.9992572 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2586542 NA 0.7985951 NA 0.2006621 NA FALSE NA 1 7.153 rs143353224 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 rs143353224&COSM4038222 1 NA T:0 T:0.0002 ACG C,T 1.647e-05 12:105229205 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 7.515141 0.99391 0.97287 0.706298 0.9990095 0 3.52823e-09 FALSE 1.22205e-05 ENSE00002354222_024 ENSE00002354222 024 12 105622873 105623042 - 30 99 41 G A 105622984 3087 59 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGTGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229205 105229206 105229206 exon 18 0.1818182 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGTGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 510 322 0.9999193 1 0.9999596 NA NA 0.85733 0.7398603 NA NA 0.1425893 0.2601397 NA 0.7985951 NA 0.2013645 NA FALSE NA 0.11 -0.585 rs146235373 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 rs146235373 1 A:0.0016 A:0 A:0 NA A:0.0069 A:0 A:0.001 A:0.0002 A:0 CGC G,A 0.0006013 12:105229206 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 synonymous_variant 1.854529 0.96307 0.07115 0.706298 0.7419276 0 3.52823e-09 FALSE 0.000741743 ENSE00002354222_025 ENSE00002354222 025 12 105622873 105623042 - 30 99 41 C G 105622985 3088 58 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGACCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229206 105229207 105229207 exon 17 0.1717172 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGACCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 282 223 0.9945206 0.9942835 0.9944021 NA NA 0.85733 0.7398603 NA NA 0.1371906 0.2544232 NA 0.7985951 NA 0.1958069 NA FALSE NA 1 7.153 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA GCT C,G 8.236e-06 12:105229207 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 5.335641 0.99422 0.98007 0.706298 0.9966214 0 3.52823e-09 FALSE 4.07345e-06 ENSE00002354222_026 ENSE00002354222 026 12 105622873 105623042 - 30 99 41 G T 105622989 3089 54 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTAATGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229210 105229211 105229211 exon 13 0.1313131 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTAATGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 169 150 1 1 1 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2601397 NA 0.7985951 NA 0.2014049 NA FALSE NA 1 9.036 rs139323627 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 rs139323627 1 NA T:0 T:0.0001 AGT G,T 8.236e-06 12:105229211 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 6.242584 0.99421 0.98669 0.706298 0.9973533 0 3.52823e-09 FALSE 4.07917e-06 ENSE00002354222_027 ENSE00002354222 027 12 105622873 105623042 - 30 99 41 G A 105622996 3090 47 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGTTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229217 105229218 105229218 exon 6 0.06060606 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGTTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 399 1511 0.996652 0.9991101 0.997881 NA NA 0.85733 0.7398603 NA NA 0.139322 0.2592498 NA 0.7985951 NA 0.1992859 NA FALSE NA 1 2.234 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA AGC G,A 8.237e-06 12:105229218 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 synonymous_variant 1.158684 0.97169 0.86085 0.706298 0.6394275 0 3.52823e-09 FALSE NA ENSE00002354222_030 ENSE00002354222 030 12 105622873 105623042 - 30 99 41 G A 105622998 3093 45 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTTGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229219 105229220 105229220 exon 4 0.04040404 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTTGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 795 502 0.9959826 1 0.9979913 NA NA 0.85733 0.7398603 NA NA 0.1386526 0.2601397 NA 0.7985951 NA 0.1993962 NA FALSE NA 1 5.882 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/18 1 NA CGA G,A 8.237e-06 12:105229220 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 missense_variant 7.185619 0.98607 0.95721 0.706298 0.9994029 0 3.52823e-09 FALSE NA ENSE00002354222_032 ENSE00002354222 032 12 105622873 105623042 - 30 99 41 A G 105623009 3095 34 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTCCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229230 105229231 105229231 upstr_intron -8 -0.1707317 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTCCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 422 458 0.9936995 0.9879328 0.9908162 NA NA 0.85733 0.7398603 NA NA 0.1363695 0.2480725 NA 0.7985951 NA 0.192221 NA FALSE NA 0.001 0.567 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW APPL2 HGNC 18242 ENST00000547809 1/17 1 NA GAA A,G 8.241e-06 12:105229231 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 splice_region_variant -0.463783 0.28867 0.13369 0.078448 0.6659935 0.134176 3.52823e-09 FALSE 4.25474e-06 ENSE00002354222_033 ENSE00002354222 033 12 105622873 105623042 - 30 99 41 A C 105623010 3096 33 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTGTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229231 105229232 105229232 upstr_intron -9 -0.195122 ACTTAGAAATGAAATTGACCTTTTTTCTTCTTGTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 1253 526 0.8737205 0.9928168 0.9332686 NA NA 0.85733 0.7398603 NA NA 0.0163905 0.2529565 NA 0.7985951 NA 0.1346735 NA FALSE NA 0.016 0.968 . intron_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 1/17 1 NA AAA A,C 8.241e-06 12:105229232 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 intron_variant 0.058953 0.26515 0.04946 0.078448 0.570837 0.121259 3.52823e-09 FALSE 8.48904e-06 ENSE00002354222_034 ENSE00002354222 034 12 105622873 105623042 - 30 99 41 A T 105623027 3097 16 ACTTAGAAATGAAATAGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 105229248 105229249 105229249 upstr_intron -26 -0.6097561 ACTTAGAAATGAAATAGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC mutant NA NA NA NA NA 468 195 1 0.9608788 0.9804394 NA NA 0.85733 0.7398603 NA NA 0.14267 0.2210185 NA 0.7985951 NA 0.1818443 NA FALSE NA 0 -0.616 . intron_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 1/17 1 NA CAA A,T 8.253e-06 12:105229249 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003501040 intron_variant 0.136795 0.18926 0.15037 0.057505 0.739216 0.0703183 3.52823e-09 FALSE 4.55938e-06 ENSE00002354222_BRK ENSE00002354222 BRK 12 105622873 105623042 - 30 99 41 A,G; T,T NA NA NA ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCTTACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGCCATGCTGCCACCCCTCACCTGGATACCGC 105229094 105229264 NA NA NA NA NA NA ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCTTACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGCCATGCTGCCACCCCTCACCTGGATACCGC ACTTAGAAATGAAATTGACCTTTTTTCTTCTTTTCTTCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGGTATGCTGCCACCCCTCACCTGGATACCGC control NA NA NA NA NA 304 356 0.02819188 0.01382005 0.02100597 NA NA 0.85733 0.7398603 NA NA -0.8291381 -0.7260402 NA 0.7985951 NA -0.7775892 NA TRUE NA NA NA NA NA NA APPL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APPL2 NA NA NA ENSG00000136044 ENSE00003501040 NA NA NA NA NA NA NA 3.52823e-09 FALSE NA ENSE00002354803_000 ENSE00002354803 000 1 202538210 202538379 + 65 51 54 NA NA NA NA NA GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 NA NA NA NA NA NA GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG natural 28 14 0.8867086 0.9865003 0.9366044 2814 2285 0.9449944 0.9640499 0.9545222 0.8867086 0.9865003 0.9449944 0.9640499 0 0 0 0 0.9366044 0.9545222 0 0 0 FALSE FALSE NA NA NA NA NA PPP1R12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R12B NA NA NA ENSG00000077157 ENSE00003631092 NA NA NA NA NA NA NA 0.1244546 FALSE NA ENSE00002354803_002 ENSE00002354803 002 1 202538210 202538379 + 65 51 54 A G 202538242 4660 33 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAGTAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569113 202569114 202569114 upstr_intron -33 -0.4923077 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAGTAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 25 230 1 1 1 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05500559 0.03595011 0.9366044 0.9545222 NA 0.04547785 NA FALSE NA 0 -0.731 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/3 1 NA AAT A,G 2.471e-05 1:202569114 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 intron_variant -0.209019 0.19129 0.0403 0.078448 0.2667949 0.0781158 0.1244546 FALSE 3.25309e-05 ENSE00002354803_003 ENSE00002354803 003 1 202538210 202538379 + 65 51 54 G A 202538247 4661 38 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATATTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569118 202569119 202569119 upstr_intron -28 -0.4153846 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATATTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 486 192 0.9822261 1 0.991113 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.03723167 0.03595011 0.9366044 0.9545222 NA 0.03659089 NA FALSE NA 0 -0.092 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/3 1 NA TGT G,A 3.295e-05 1:202569119 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 intron_variant 0.224182 0.20758 0.04401 0.078448 0.8076583 0.213203 0.1244546 FALSE 2.4391e-05 ENSE00002354803_004 ENSE00002354803 004 1 202538210 202538379 + 65 51 54 C T 202538253 4662 44 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAATAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569124 202569125 202569125 upstr_intron -22 -0.3230769 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAATAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 1459 626 0.9975144 0.8979523 0.9477334 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05252001 -0.0660976 0.9366044 0.9545222 NA -0.006788793 NA FALSE NA 0 0.002 rs114209048 intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/3 rs114209048 1 T:0.0040 T:0.0144 T:0.0014 NA T:0 T:0 T:0 T:0.01 T:0 ACA C,T 0.000906 1:202569125 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 intron_variant 0.577458 0.27994 0.13163 0.078448 0.7825747 0.213203 0.1244546 FALSE 0.000756134 ENSE00002354803_006 ENSE00002354803 006 1 202538210 202538379 + 65 51 54 G A 202538263 4664 54 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTATTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569134 202569135 202569135 upstr_intron -12 -0.1692308 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTATTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 28 453 1 0.9976032 0.9988016 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05500559 0.0335533 0.9366044 0.9545222 NA 0.04427945 NA FALSE NA 0.363 1.143 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 2/3 rs199910156 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0 TGT G,A 7.413e-05 1:202569135 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 intron_variant 0.583321 0.78563 0.45959 0.078448 0.6115194 0.300667 0.1244546 FALSE 7.3138e-05 ENSE00002354803_008 ENSE00002354803 008 1 202538210 202538379 + 65 51 54 C T 202538267 4666 58 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCTGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569138 202569139 202569139 upstr_intron -8 -0.1076923 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCTGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 441 427 0.998969 0.8655155 0.9322422 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05397454 -0.09853444 0.9366044 0.9545222 NA -0.02227995 NA FALSE NA 0 -0.279 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PPP1R12B HGNC 7619 ENST00000462074 2/3 rs551524581 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 9.884e-05 1:202569139 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 splice_region_variant 0.427777 0.20971 0.03957 0.078448 0.501672 0.287526 0.1244546 FALSE 8.53374e-05 ENSE00002354803_009 ENSE00002354803 009 1 202538210 202538379 + 65 51 54 G A 202538268 4667 59 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCAAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569139 202569140 202569140 upstr_intron -7 -0.09230769 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCAAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 268 402 0.9913095 1 0.9956548 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.04631514 0.03595011 0.9366044 0.9545222 NA 0.04113262 NA FALSE NA 0.001 -0.555 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PPP1R12B HGNC 7619 ENST00000462074 2/3 rs571528265 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGA G,A 8.236e-06 1:202569140 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 splice_region_variant 0.065384 0.2232 0.0561 0.078448 0.6054391 0.319344 0.1244546 FALSE 1.21901e-05 ENSE00002354803_010 ENSE00002354803 010 1 202538210 202538379 + 65 51 54 C T 202538272 4668 63 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAATAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569143 202569144 202569144 upstr_intron -3 -0.03076923 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAATAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 959 192 0.9998402 0.9695426 0.9846914 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05484576 0.005492728 0.9366044 0.9545222 NA 0.03016925 NA FALSE NA 1 2.514 rs144459841 splice_region_variant&intron_variant&non_coding_transcript_variant LOW PPP1R12B HGNC 7619 ENST00000462074 2/3 rs144459841 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACA C,T 8.236e-06 1:202569144 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 splice_region_variant 2.297044 0.92623 0.82407 0.078448 0.8816062 0.537 0.1244546 FALSE 4.06326e-06 ENSE00002354803_011 ENSE00002354803 011 1 202538210 202538379 + 65 51 54 C T 202538281 4669 72 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGTGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569152 202569153 202569153 exon 7 0.1372549 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGTGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 45 89 0.9540837 0.9965041 0.9752939 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.009089267 0.03245422 0.9366044 0.9545222 NA 0.02077175 NA FALSE NA 0.994 0.908 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/4 1 NA GCG C,T 8.236e-06 1:202569153 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 stop_gained 13.73813 0.92052 0.82225 0.600919 0.9969968 0 0.1244546 FALSE 4.06299e-06 ENSE00002354803_012 ENSE00002354803 012 1 202538210 202538379 + 65 51 54 G A 202538282 4670 73 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCAAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569153 202569154 202569154 exon 8 0.1568627 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCAAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 19 254 1 1 1 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05500559 0.03595011 0.9366044 0.9545222 NA 0.04547785 NA FALSE NA 1 5.42 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/4 1 NA CGA G,A 3.295e-05 1:202569154 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 missense_variant 7.853569 0.94641 0.89908 0.600919 0.9994572 0 0.1244546 FALSE 2.43786e-05 ENSE00002354803_013 ENSE00002354803 013 1 202538210 202538379 + 65 51 54 A T 202538291 4671 82 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGTGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569162 202569163 202569163 exon 17 0.3333333 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGTGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 613 258 0.9760886 1 0.9880443 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.0310942 0.03595011 0.9366044 0.9545222 NA 0.03352216 NA FALSE NA 1 8.078 rs147644192 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/4 rs147644192 1 NA T:0 T:0.0003 GAG A,T 0.0004777 1:202569163 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 missense_variant 7.545567 0.96142 0.96768 0.600919 0.9924205 0 0.1244546 FALSE 0.000528099 ENSE00002354803_014 ENSE00002354803 014 1 202538210 202538379 + 65 51 54 C T 202538293 4672 84 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGTGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569164 202569165 202569165 exon 19 0.372549 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGTGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 1157 467 0.9979118 0.9957717 0.9968417 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05291734 0.0317218 0.9366044 0.9545222 NA 0.04231957 NA FALSE NA 1 4.07 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/4 1 NA GCG C,T 5.765e-05 1:202569165 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 missense_variant 8.338185 0.9367 0.86965 0.600919 0.9992228 0 0.1244546 FALSE 3.65649e-05 ENSE00002354803_017 ENSE00002354803 017 1 202538210 202538379 + 65 51 54 A G 202538297 4675 88 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAGAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569168 202569169 202569169 exon 23 0.4509804 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAGAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant 19 57 0.9260399 0.9278474 0.9269436 NA NA NA NA NA 0.8867086 0.9865003 0.9449944 0.9640499 0.03933128 -0.0586529 NA NA 0.9366044 0.9545222 -0.009660814 NA NA NA FALSE 1 2.775 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/4 1 NA AAA A,G 8.237e-06 1:202569169 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 missense_variant 3.191935 0.9417 0.85091 0.600919 0.9952327 0 0.1244546 FALSE 8.12546e-06 ENSE00002354803_018 ENSE00002354803 018 1 202538210 202538379 + 65 51 54 A T 202538307 4676 98 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGATATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569178 202569179 202569179 exon -19 0.6470588 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGATATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 209 100 1 0.9984152 0.9992076 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05500559 0.03436527 0.9366044 0.9545222 NA 0.04468543 NA FALSE NA 0.998 0.455 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/4 1 NA AAA A,T 3.295e-05 1:202569179 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 missense_variant 5.582242 0.88768 0.6703 0.600919 0.9974985 0 0.1244546 FALSE 3.25039e-05 ENSE00002354803_019 ENSE00002354803 019 1 202538210 202538379 + 65 51 54 A G 202538308 4677 99 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAGTGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569179 202569180 202569180 exon -18 0.6666667 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAGTGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 46 473 0.9752546 1 0.9876273 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.03026017 0.03595011 0.9366044 0.9545222 NA 0.03310514 NA FALSE NA 1 8.078 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/4 1 NA AAT A,G 8.237e-06 1:202569180 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 missense_variant 5.740053 0.96001 0.96301 0.600919 0.9955425 0 0.1244546 FALSE 4.06299e-06 ENSE00002354803_021 ENSE00002354803 021 1 202538210 202538379 + 65 51 54 A T 202538332 4679 123 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGATGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569203 202569204 202569204 downstr_intron 7 1.132075 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGATGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 910 510 0.9989881 0.9942798 0.9966339 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05399367 0.0302299 0.9366044 0.9545222 NA 0.04211179 NA FALSE NA 0.004 0.451 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PPP1R12B HGNC 7619 ENST00000462074 3/3 rs370430572 1 NA T:0.0002 T:0 AAG A,T 8.237e-06 1:202569204 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 splice_region_variant 1.050568 0.20934 0.10336 0.071141 0.8357308 0.375938 0.1244546 FALSE 1.21911e-05 ENSE00002354803_023 ENSE00002354803 023 1 202538210 202538379 + 65 51 54 T A 202538338 4681 129 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATATTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569209 202569210 202569210 downstr_intron 13 1.245283 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATATTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 68 940 1 0.957545 0.9787725 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.05500559 -0.006504941 0.9366044 0.9545222 NA 0.02425033 NA FALSE NA 0.002 0.601 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/3 1 NA TTT T,A 8.237e-06 1:202569210 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 intron_variant 1.723972 0.2044 0.13947 0.071141 0.7697519 0.14442 0.1244546 FALSE 4.06531e-06 ENSE00002354803_024 ENSE00002354803 024 1 202538210 202538379 + 65 51 54 T C 202538344 4682 135 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTCCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569215 202569216 202569216 downstr_intron 19 1.358491 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTCCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 263 204 0.992337 1 0.9961685 0.8867086 0.9865003 0.9449944 0.9640499 NA NA 0.04734255 0.03595011 0.9366044 0.9545222 NA 0.04164633 NA FALSE NA 0 -0.144 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/3 rs375118585 1 NA C:0.0007 C:0 TTC T,C 4.942e-05 1:202569216 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 intron_variant 0.117957 0.17863 0.10433 0.071141 0.5016808 0.14442 0.1244546 FALSE 3.65979e-05 ENSE00002354803_025 ENSE00002354803 025 1 202538210 202538379 + 65 51 54 C T 202538345 4683 136 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTTTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 202569216 202569217 202569217 downstr_intron 20 1.377358 GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTTTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG mutant NA NA NA NA NA 705 498 0.9362292 0.9986802 0.9674547 0.8867086 0.9865003 0.9449944 0.9640499 NA NA -0.0087652 0.0346303 0.9366044 0.9545222 NA 0.01293255 NA FALSE NA 0 0.043 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000462074 3/3 1 NA TCT C,T 8.237e-06 1:202569217 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003631092 intron_variant 0.034577 0.20349 0.08168 0.071141 0.5823747 0.14442 0.1244546 FALSE 4.06702e-06 ENSE00002354803_BRK ENSE00002354803 BRK 1 202538210 202538379 + 65 51 54 A,G; T,T NA NA NA GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACTTGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGCCATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG 202569081 202569251 NA NA NA NA NA NA GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACTTGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGCCATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG GGAGGCAGCATTTTTACTCCCTTCTGAATTCAATAATGTTCAACAGTCTCATTGTTCCGAAACAGGAGAGGCGAGCCTTGGAGCGCAAAATGTCAGAAATGGAGGAAGAAATGAAGGTATGAAGAGATTTTCTTTCTTTTTGTATGCCTGTTCTCTGAATGCCTGCCAAG control NA NA NA NA NA 743 68 0.0008083389 0 0.0004041695 0.8867086 0.9865003 0.9449944 0.9640499 NA NA -0.9441861 -0.9640499 0.9366044 0.9545222 NA -0.954118 NA TRUE NA NA NA NA NA NA PPP1R12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R12B NA NA NA ENSG00000077157 ENSE00003631092 NA NA NA NA NA NA NA 0.1244546 FALSE NA ENSE00002354906_000 ENSE00002354906 000 5 80809412 80809581 - 35 90 45 NA NA NA NA NA CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 NA NA NA NA NA NA CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC natural 163 330 0.85 0.823261 0.8366305 3604 5515 0.798863 0.9192843 0.8590737 0.85 0.823261 0.798863 0.9192843 0 0 0 0 0.8366305 0.8590737 0 0 0 FALSE FALSE NA NA NA NA NA SSBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SSBP2 NA NA NA ENSG00000145687 ENSE00003666808 NA NA NA NA NA NA NA 0.9767725 TRUE NA ENSE00002354906_002 ENSE00002354906 002 5 80809412 80809581 - 35 90 45 C T 80809456 796 126 CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGATTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 81513636 81513637 81513637 exon -10 0.9 CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGATTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC mutant NA NA NA NA NA 1366 518 0.9404982 0.9999265 0.9702123 0.85 0.823261 0.798863 0.9192843 NA NA 0.1416352 0.08064222 0.8366305 0.8590737 NA 0.1111387 NA FALSE NA 1 0.705 rs140549786 synonymous_variant LOW SSBP2 HGNC 15831 ENST00000505980 5/16 rs140549786 1 NA T:0.0002 T:0 ACC C,T 3.295e-05 5:81513637 SSBP2 HGNC Symbol protein_coding 338776 ENSG00000145687 ENSE00003666808 synonymous_variant 1.898579 0.9168 0.64388 0.743674 0.6720854 0 0.9767725 TRUE 1.223e-05 ENSE00002354906_004 ENSE00002354906 004 5 80809412 80809581 - 35 90 45 T C 80809500 798 82 CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACGTTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 81513680 81513681 81513681 exon 37 0.4111111 CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACGTTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC mutant NA NA NA NA NA 322 479 0.9936709 0.9964188 0.9950449 0.85 0.823261 0.798863 0.9192843 NA NA 0.1948079 0.07713454 0.8366305 0.8590737 NA 0.1359712 NA FALSE NA 1 3.253 . missense_variant MODERATE SSBP2 HGNC 15831 ENST00000505980 5/16 1 tolerated(0.1) benign(0.004) NA ATG T,C 8.236e-06 5:81513681 SSBP2 HGNC Symbol protein_coding 338776 ENSG00000145687 ENSE00003666808 missense_variant 1.869394 0.95484 0.85911 0.743674 0.9933183 0 0.9767725 TRUE 4.06921e-06 ENSE00002354906_005 ENSE00002354906 005 5 80809412 80809581 - 35 90 45 T C 80809502 799 80 CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAGCATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 81513682 81513683 81513683 exon 35 0.3888889 CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAGCATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC mutant NA NA NA NA NA 724 51 0.9954627 0.9992503 0.9973565 0.85 0.823261 0.798863 0.9192843 NA NA 0.1965997 0.079966 0.8366305 0.8590737 NA 0.1382828 NA FALSE NA 1 7.642 . missense_variant MODERATE SSBP2 HGNC 15831 ENST00000505980 5/16 1 tolerated(0.57) benign(0.062) NA GTT T,C 8.236e-05 5:81513683 SSBP2 HGNC Symbol protein_coding 338776 ENSG00000145687 ENSE00003666808 missense_variant 0.884477 0.9755 0.95006 0.743674 0.9712827 0 0.9767725 TRUE 6.51089e-05 ENSE00002354906_006 ENSE00002354906 006 5 80809412 80809581 - 35 90 45 A G 80809541 800 41 CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTCGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 81513721 81513722 81513722 upstr_intron -5 -0.08888889 CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTCGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC mutant NA NA NA NA NA 1075 261 0.9104844 0.881108 0.8957962 0.85 0.823261 0.798863 0.9192843 NA NA 0.1116214 -0.03817625 0.8366305 0.8590737 NA 0.03672258 NA FALSE NA 1 4.454 . splice_region_variant&intron_variant LOW SSBP2 HGNC 15831 ENST00000505980 4/15 rs372073053 1 NA G:0 G:0.0001 CAA A,G 8.236e-06 5:81513722 SSBP2 HGNC Symbol protein_coding 338776 ENSG00000145687 ENSE00003666808 splice_region_variant 1.718626 0.94985 0.85972 0.070351 0.9500047 0.864408 0.9767725 TRUE 4.11733e-06 ENSE00002354906_008 ENSE00002354906 008 5 80809412 80809581 - 35 90 45 C T 80809558 802 24 CTTCTCTGTAATGATATAGGTTTATTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 81513738 81513739 81513739 upstr_intron -22 -0.4666667 CTTCTCTGTAATGATATAGGTTTATTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC mutant NA NA NA NA NA 533 557 0.8847177 0.8339697 0.8593437 0.85 0.823261 0.798863 0.9192843 NA NA 0.0858547 -0.08531459 0.8366305 0.8590737 NA 0.0002700587 NA FALSE NA 1 2.758 . intron_variant MODIFIER SSBP2 HGNC 15831 ENST00000505980 4/15 rs376571321 1 NA T:0 T:0.0001 ACA C,T 1.647e-05 5:81513739 SSBP2 HGNC Symbol protein_coding 338776 ENSG00000145687 ENSE00003666808 intron_variant 2.472253 0.92747 0.65819 0.070351 0.7518633 0.901407 0.9767725 TRUE 8.35834e-06 ENSE00002354906_009 ENSE00002354906 009 5 80809412 80809581 - 35 90 45 A G 80809561 803 21 CTTCTCTGTAATGATATAGGCTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 81513741 81513742 81513742 upstr_intron -25 -0.5333333 CTTCTCTGTAATGATATAGGCTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC mutant NA NA NA NA NA 1403 211 0.8492662 0.8006844 0.8249753 0.85 0.823261 0.798863 0.9192843 NA NA 0.05040318 -0.1185999 0.8366305 0.8590737 NA -0.03409836 NA FALSE NA 1 6.348 . intron_variant MODIFIER SSBP2 HGNC 15831 ENST00000505980 4/15 1 NA AAC A,G 8.237e-06 5:81513742 SSBP2 HGNC Symbol protein_coding 338776 ENSG00000145687 ENSE00003666808 intron_variant 2.560444 0.97421 0.97778 0.070351 0.8887825 0.975198 0.9767725 TRUE NA ENSE00002354906_010 ENSE00002354906 010 5 80809412 80809581 - 35 90 45 A G 80809565 804 17 CTTCTCTGTAATGATACAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 81513745 81513746 81513746 upstr_intron -29 -0.6222222 CTTCTCTGTAATGATACAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC mutant NA NA NA NA NA 288 4298 0.9222891 0.9703883 0.9463387 0.85 0.823261 0.798863 0.9192843 NA NA 0.1234261 0.051104 0.8366305 0.8590737 NA 0.08726502 NA FALSE NA 0.195 0.051 . intron_variant MODIFIER SSBP2 HGNC 15831 ENST00000505980 4/15 1 NA TAT A,G 8.237e-06 5:81513746 SSBP2 HGNC Symbol protein_coding 338776 ENSG00000145687 ENSE00003666808 intron_variant 1.749748 0.20817 0.13039 0.070351 0.7276841 0.421541 0.9767725 TRUE 1.27052e-05 ENSE00002354906_011 ENSE00002354906 011 5 80809412 80809581 - 35 90 45 T C 80809566 805 16 CTTCTCTGTAATGATGTAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 81513746 81513747 81513747 upstr_intron -30 -0.6444444 CTTCTCTGTAATGATGTAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC mutant NA NA NA NA NA 440 238 0.815309 0.8881125 0.8517107 0.85 0.823261 0.798863 0.9192843 NA NA 0.01644592 -0.03117182 0.8366305 0.8590737 NA -0.007362946 NA FALSE NA 0.17 0.063 . intron_variant MODIFIER SSBP2 HGNC 15831 ENST00000505980 4/15 1 NA ATA T,C 8.237e-06 5:81513747 SSBP2 HGNC Symbol protein_coding 338776 ENSG00000145687 ENSE00003666808 intron_variant 1.539875 0.21548 0.15027 0.070351 0.6392186 0.489826 0.9767725 TRUE 8.47199e-06 ENSE00002354906_BRK ENSE00002354906 BRK 5 80809412 80809581 - 35 90 45 A,G; T,T NA NA NA CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCTTAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGCCACTCAGAGAAACTCTGACTAGGAATGTTAAAGC 81513592 81513762 NA NA NA NA NA NA CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCTTAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGCCACTCAGAGAAACTCTGACTAGGAATGTTAAAGC CTTCTCTGTAATGATATAGGTTTGTTTCTCCTTTATTCTTTGCAGAGTGCTGCAGCAGCTCCCAGTCCAGTGCTAGGAAACATTCCCCCAGGAGATGGCATGCCAGTAGGTCCTGTACCACCAGGGTTCTTTCAGGTACTCAGAGAAACTCTGACTAGGAATGTTAAAGC control 59 48 0 0 0 1265 134 0 0.002396548 0.001198274 0.85 0.823261 0.798863 0.9192843 -0.85 -0.823261 -0.798863 -0.9168877 0.8366305 0.8590737 -0.8366305 -0.8578754 0.02124486 TRUE TRUE NA NA NA NA NA SSBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SSBP2 NA NA NA ENSG00000145687 ENSE00003666808 NA NA NA NA NA NA NA 0.9767725 TRUE NA ENSE00002355430_000 ENSE00002355430 000 7 106512925 106513094 + 57 66 47 NA NA NA NA NA CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG 106872479 106872649 NA NA NA NA NA NA CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG natural NA NA NA NA NA 745 456 0.9948918 0.9483681 0.9716299 NA NA 0.9948918 0.9483681 NA NA 0 0 NA 0.9716299 NA 0 NA FALSE NA NA NA NA NA NA PIK3CG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIK3CG NA NA NA ENSG00000105851 ENSE00003594341 NA NA NA NA NA NA NA 0.5639639 FALSE NA ENSE00002355430_003 ENSE00002355430 003 7 106512925 106513094 + 57 66 47 G A 106512937 2175 13 CCCTGATTCAACAACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG 106872479 106872649 106872491 106872492 106872492 upstr_intron -45 -0.7719298 CCCTGATTCAACAACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG mutant NA NA NA NA NA 82 61 1 1 1 NA NA 0.9948918 0.9483681 NA NA 0.005108244 0.05163192 NA 0.9716299 NA 0.02837008 NA FALSE NA 0 -0.357 . intron_variant MODIFIER PIK3CG HGNC 8978 ENST00000473541 1/6 1 NA CGA G,A 1.647e-05 7:106872492 PIK3CG HGNC Symbol protein_coding 41867 ENSG00000105851 ENSE00003594341 intron_variant 0.067981 0.13448 0.00344 0.07321 0.6373525 0.117188 0.5639639 FALSE 1.67791e-05 ENSE00002355430_005 ENSE00002355430 005 7 106512925 106513094 + 57 66 47 T C 106512974 2177 50 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTCCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG 106872479 106872649 106872528 106872529 106872529 upstr_intron -8 -0.122807 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTCCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG mutant NA NA NA NA NA 216 19 0.9605587 0.9418148 0.9511867 NA NA 0.9948918 0.9483681 NA NA -0.03433309 -0.006553332 NA 0.9716299 NA -0.02044321 NA FALSE NA 0.1 3.453 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:106872529 PIK3CG HGNC Symbol protein_coding 41867 ENSG00000105851 ENSE00003594341 splice_region_variant 0.893159 0.34337 0.53724 0.096616 0.6186514 0.765012 0.5639639 FALSE 4.06299e-06 ENSE00002355430_006 ENSE00002355430 006 7 106512925 106513094 + 57 66 47 T G 106512974 2178 50 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTGCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG 106872479 106872649 106872528 106872529 106872529 upstr_intron -8 -0.122807 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTGCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG mutant NA NA NA NA NA 310 766 0.01495866 0.0008360328 0.007897344 NA NA 0.9948918 0.9483681 NA NA -0.9799331 -0.9475321 NA 0.9716299 NA -0.9637326 NA TRUE NA 0.1 3.453 NA NA NA PIK3CG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PIK3CG NA NA NA ENSG00000105851 ENSE00003594341 splice_region_variant 1.121242 0.34606 0.71806 0.096616 0.6489278 0.765012 0.5639639 FALSE 4.06299e-06 ENSE00002355430_013 ENSE00002355430 013 7 106512925 106513094 + 57 66 47 T A 106513031 2185 107 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCAGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG 106872479 106872649 106872585 106872586 106872586 exon -17 0.7575758 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCAGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG mutant NA NA NA NA NA 88 832 1 1 1 NA NA 0.9948918 0.9483681 NA NA 0.005108244 0.05163192 NA 0.9716299 NA 0.02837008 NA FALSE NA 1 7.633 . 5_prime_UTR_variant MODIFIER PIK3CG HGNC 8978 ENST00000473541 2/7 1 NA CTG T,A 8.236e-06 7:106872586 PIK3CG HGNC Symbol protein_coding 41867 ENSG00000105851 ENSE00003594341 missense_variant 6.528617 0.9731 0.95514 0.608746 0.9920297 0 0.5639639 FALSE 4.06147e-06 ENSE00002355430_016 ENSE00002355430 016 7 106512925 106513094 + 57 66 47 A G 106513050 2188 126 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTGAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG 106872479 106872649 106872604 106872605 106872605 downstr_intron 3 1.065217 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTGAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG mutant NA NA NA NA NA 342 28 0.9154264 0.95 0.9327132 NA NA 0.9948918 0.9483681 NA NA -0.07946534 0.001631917 NA 0.9716299 NA -0.03891671 NA FALSE NA 1 3.477 . splice_region_variant&intron_variant LOW PIK3CG HGNC 8978 ENST00000473541 2/6 1 NA TAA A,G 8.236e-06 7:106872605 PIK3CG HGNC Symbol protein_coding 41867 ENSG00000105851 ENSE00003594341 splice_region_variant 1.701285 0.94446 0.83804 0.093295 0.9309933 0.359284 0.5639639 FALSE 1.21846e-05 ENSE00002355430_017 ENSE00002355430 017 7 106512925 106513094 + 57 66 47 C T 106513073 2189 149 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGTGTGAAATTTTAAGTTGCCAAG 106872479 106872649 106872627 106872628 106872628 downstr_intron 26 1.565217 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGTGTGAAATTTTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG mutant NA NA NA NA NA 199 615 0.9984563 0.9928218 0.995639 NA NA 0.9948918 0.9483681 NA NA 0.003564542 0.04445368 NA 0.9716299 NA 0.02400911 NA FALSE NA 0 -1.657 . intron_variant MODIFIER PIK3CG HGNC 8978 ENST00000473541 2/6 rs533942080 1 NA GCG C,T 1.647e-05 7:106872628 PIK3CG HGNC Symbol protein_coding 41867 ENSG00000105851 ENSE00003594341 intron_variant -0.429878 0.24467 0.04801 0.093295 0.6916897 0.0846601 0.5639639 FALSE 1.21901e-05 ENSE00002355430_018 ENSE00002355430 018 7 106512925 106513094 + 57 66 47 G A 106513074 2190 150 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCATGAAATTTTAAGTTGCCAAG 106872479 106872649 106872628 106872629 106872629 downstr_intron 27 1.586957 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCATGAAATTTTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG mutant NA NA NA NA NA 411 17 0.9932194 0.95 0.9716097 NA NA 0.9948918 0.9483681 NA NA -0.00167232 0.001631917 NA 0.9716299 NA -2.020142e-05 NA FALSE NA 0 -0.597 . intron_variant MODIFIER PIK3CG HGNC 8978 ENST00000473541 2/6 rs544010724 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGT G,A 1.647e-05 7:106872629 PIK3CG HGNC Symbol protein_coding 41867 ENSG00000105851 ENSE00003594341 intron_variant -0.636915 0.21384 0.04364 0.093295 0.5794233 0.0475718 0.5639639 FALSE 2.43791e-05 ENSE00002355430_020 ENSE00002355430 020 7 106512925 106513094 + 57 66 47 T G 106513082 2192 158 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTGTAAGTTGCCAAG 106872479 106872649 106872636 106872637 106872637 downstr_intron 35 1.76087 CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTGTAAGTTGCCAAG CCCTGATTCAACGACATAGAGTACAGTCCTACAAATGCCAATGTGTTCTTCCTTTAGGCTGTGAAATTTGAACCATACCATGATAGCGCCCTTGCCAGATTTCTGCTGAAGCGTGGTTTAAGAGTAAGTACTTCCATTTTGATAATAGCGTGAAATTTTAAGTTGCCAAG mutant NA NA NA NA NA 164 64 1 0.9963505 0.9981752 NA NA 0.9948918 0.9483681 NA NA 0.005108244 0.04798238 NA 0.9716299 NA 0.02654531 NA FALSE NA 0 1.092 . intron_variant MODIFIER PIK3CG HGNC 8978 ENST00000473541 2/6 1 NA TTT T,G 6.589e-05 7:106872637 PIK3CG HGNC Symbol protein_coding 41867 ENSG00000105851 ENSE00003594341 intron_variant 0.030375 0.2855 0.28855 0.093295 0.4485607 0.048322 0.5639639 FALSE 4.87626e-05 ENSE00002355689_000 ENSE00002355689 000 6 75806916 75807085 - 53 54 63 NA NA NA NA NA GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT 75097199 75097369 NA NA NA NA NA NA GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT natural 32 34 0.9447354 0.9623113 0.9535233 609 524 0.8208262 0.9870527 0.9039394 0.9447354 0.9623113 0.8208262 0.9870527 0 0 0 0 0.9535233 0.9039394 0 0 0 FALSE FALSE NA NA NA NA NA COL12A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL12A1 NA NA NA ENSG00000111799 ENSE00003650847 NA NA NA NA NA NA NA 0.9999996 TRUE NA ENSE00002355689_003 ENSE00002355689 003 6 75806916 75807085 - 53 54 63 G A 75806939 1817 147 GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGTCCTTCACTCCCACCCTCTCACCT 75097199 75097369 75097222 75097223 75097223 downstr_intron 30 1.576923 GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGTCCTTCACTCCCACCCTCTCACCT GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT mutant NA NA NA NA NA 108 39 0.9764836 1 0.9882418 0.9447354 0.9623113 0.8208262 0.9870527 NA NA 0.1556574 0.0129473 0.9535233 0.9039394 NA 0.08430235 NA FALSE NA 0 -0.832 . intron_variant MODIFIER COL12A1 HGNC 2188 ENST00000416123 56/62 1 NA GGC G,A 8.276e-06 6:75097223 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003650847 intron_variant 0.157204 0.1549 0.00571 0.074388 0.6114774 0.0485084 0.9999996 TRUE NA ENSE00002355689_007 ENSE00002355689 007 6 75806916 75807085 - 53 54 63 C T 75806976 1821 110 GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGAGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT 75097199 75097369 75097259 75097260 75097260 exon -8 0.8703704 GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGAGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT mutant NA NA NA NA NA 45 118 1 0.9867232 0.9933616 0.9447354 0.9623113 0.8208262 0.9870527 NA NA 0.1791738 -0.0003295239 0.9535233 0.9039394 NA 0.08942215 NA FALSE NA 1 6.455 . missense_variant MODERATE COL12A1 HGNC 2188 ENST00000416123 56/63 rs370191776 1 probably_damaging(0.969) NA T:0 T:0.0001 CCC C,T 8.279e-06 6:75097260 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003650847 missense_variant 6 0.99295 0.99281 0.706298 0.9973641 0 0.9999996 TRUE 4.06749e-06 ENSE00002355689_010 ENSE00002355689 010 6 75806916 75807085 - 53 54 63 G T 75806984 1824 102 GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGACCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT 75097199 75097369 75097267 75097268 75097268 exon -16 0.7222222 GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGACCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT mutant NA NA NA NA NA 65 676 1 1 1 0.9447354 0.9623113 0.8208262 0.9870527 NA NA 0.1791738 0.0129473 0.9535233 0.9039394 NA 0.09606057 NA FALSE NA 0.001 -1.517 . synonymous_variant LOW COL12A1 HGNC 2188 ENST00000416123 56/63 rs559357342 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGC G,T 8.279e-06 6:75097268 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003650847 synonymous_variant 1.304938 0.67941 0.17937 0.706298 0.7519737 0 0.9999996 TRUE NA ENSE00002355689_013 ENSE00002355689 013 6 75806916 75807085 - 53 54 63 T G 75807016 1827 70 GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCCCTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT 75097199 75097369 75097299 75097300 75097300 exon 7 0.1296296 GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCCCTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT GCATCTTTTCTTTTCACTTGCTTATGACCTCCCTAACTGTAATTACTTTCATTTTTACAATAGGGCTTCACTGGAAAAGACGGTGCAATGGGACCCAGGGGCCCACCAGGGCCGCCGGTAAGAACTAAATGTGTCTCATTTTTGTGCCCTTCACTCCCACCCTCTCACCT mutant NA NA NA NA NA 749 385 0.9265596 0.999589 0.9630743 0.9447354 0.9623113 0.8208262 0.9870527 NA NA 0.1057334 0.0125363 0.9535233 0.9039394 NA 0.05913485 NA FALSE NA 1 4.008 . missense_variant MODERATE COL12A1 HGNC 2188 ENST00000416123 56/63 1 possibly_damaging(0.702) NA GTG T,G 8.279e-06 6:75097300 COL12A1 HGNC Symbol protein_coding 121725 ENSG00000111799 ENSE00003650847 missense_variant 4.890465 0.98428 0.89102 0.706298 0.9587036 0 0.9999996 TRUE 4.06911e-06 ENSE00002356095_000 ENSE00002356095 000 3 183663603 183663772 - 35 90 45 NA NA NA NA NA TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 NA NA NA NA NA NA TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC natural 17 20 1 0.9922846 0.9961423 2700 5105 0.9682587 0.9371536 0.9527061 1 0.9922846 0.9682587 0.9371536 0 0 0 0 0.9961423 0.9527061 0 0 0 FALSE FALSE NA NA NA NA NA ABCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC5 NA NA NA ENSG00000114770 ENSE00003569634 NA NA NA NA NA NA NA 0.8962051 FALSE NA ENSE00002356095_001 ENSE00002356095 001 3 183663603 183663772 - 35 90 45 G A 183663613 3710 160 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACTGTGATCTGAC 183945814 183945984 183945824 183945825 183945825 downstr_intron 25 1.735294 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACTGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 936 306 0.9992501 0.9862697 0.9927599 1 0.9922846 0.9682587 0.9371536 NA NA 0.03099144 0.04911614 0.9961423 0.9527061 NA 0.04005379 NA FALSE NA 0 -0.394 . intron_variant MODIFIER ABCC5 HGNC 56 ENST00000265586 22/27 rs373612396 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 1.655e-05 3:183945825 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 intron_variant 0.168885 0.08728 0.00124 0.099367 0.7101433 0.0882427 0.8962051 FALSE 1.22002e-05 ENSE00002356095_003 ENSE00002356095 003 3 183663603 183663772 - 35 90 45 C T 183663622 3712 151 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGACCTTTTACCGTGATCTGAC 183945814 183945984 183945833 183945834 183945834 downstr_intron 16 1.470588 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGACCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 163 257 0.9988044 1 0.9994022 1 0.9922846 0.9682587 0.9371536 NA NA 0.03054569 0.06284645 0.9961423 0.9527061 NA 0.04669607 NA FALSE NA 0 -0.387 . intron_variant MODIFIER ABCC5 HGNC 56 ENST00000265586 22/27 rs376694775 1 NA T:0.0003 T:0 GCC C,T 8.273e-05 3:183945834 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 intron_variant 1.096734 0.24671 0.08486 0.099367 0.7464762 0.250642 0.8962051 FALSE 8.53638e-05 ENSE00002356095_004 ENSE00002356095 004 3 183663603 183663772 - 35 90 45 G A 183663647 3713 126 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCATTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945858 183945859 183945859 exon -10 0.9 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCATTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 440 20 1 0.905678 0.952839 1 0.9922846 0.9682587 0.9371536 NA NA 0.03174129 -0.03147555 0.9961423 0.9527061 NA 0.0001328687 NA FALSE NA 1 3.102 NA NA NA ABCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:183945859 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 synonymous_variant 0.65853 0.98227 0.94048 0.706548 0.6607381 0 0.8962051 FALSE 8.12632e-06 ENSE00002356095_006 ENSE00002356095 006 3 183663603 183663772 - 35 90 45 C T 183663664 3715 109 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGATGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945875 183945876 183945876 exon -27 0.7111111 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGATGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 220 100 0.997202 0.8174039 0.9073029 1 0.9922846 0.9682587 0.9371536 NA NA 0.02894326 -0.1197497 0.9961423 0.9527061 NA -0.0454032 NA FALSE NA 1 7.804 . missense_variant MODERATE ABCC5 HGNC 56 ENST00000265586 22/28 rs564665731 1 deleterious(0.02) probably_damaging(0.996) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACC C,T 8.273e-06 3:183945876 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 missense_variant 7.278503 0.9952 0.99139 0.706548 0.9992363 0 0.8962051 FALSE 4.06286e-06 ENSE00002356095_007 ENSE00002356095 007 3 183663603 183663772 - 35 90 45 G A 183663666 3716 107 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTTGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945877 183945878 183945878 exon -29 0.6888889 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTTGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 415 285 0.9996305 0.9994447 0.9995376 1 0.9922846 0.9682587 0.9371536 NA NA 0.03137183 0.06229112 0.9961423 0.9527061 NA 0.04683148 NA FALSE NA 1 9.852 . missense_variant MODERATE ABCC5 HGNC 56 ENST00000265586 22/28 1 deleterious(0) probably_damaging(0.989) NA CGA G,A 8.274e-06 3:183945878 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 missense_variant 7.90547 0.9953 0.99506 0.706548 0.9992898 0 0.8962051 FALSE 4.06286e-06 ENSE00002356095_008 ENSE00002356095 008 3 183663603 183663772 - 35 90 45 G C 183663671 3717 102 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTGACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945882 183945883 183945883 exon -34 0.6333333 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTGACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 938 87 0.9482942 0.9507524 0.9495233 1 0.9922846 0.9682587 0.9371536 NA NA -0.01996455 0.01359881 0.9961423 0.9527061 NA -0.003182871 NA FALSE NA 1 3.845 . missense_variant MODERATE ABCC5 HGNC 56 ENST00000265586 22/28 1 tolerated(0.08) possibly_damaging(0.831) NA TGA G,C 8.273e-06 3:183945883 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 missense_variant 5.604148 0.99153 0.98166 0.706548 0.998785 0 0.8962051 FALSE NA ENSE00002356095_010 ENSE00002356095 010 3 183663603 183663772 - 35 90 45 G T 183663676 3719 97 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTAGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945887 183945888 183945888 exon -39 0.5777778 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTAGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 1353 742 0.9965565 0.9983353 0.9974459 1 0.9922846 0.9682587 0.9371536 NA NA 0.02829782 0.06118173 0.9961423 0.9527061 NA 0.04473977 NA FALSE NA 1 9.852 . synonymous_variant LOW ABCC5 HGNC 56 ENST00000265586 22/28 1 NA CGA G,T 8.273e-06 3:183945888 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 synonymous_variant 1.469023 0.99548 0.99575 0.706548 0.7713141 0 0.8962051 FALSE 4.06273e-06 ENSE00002356095_011 ENSE00002356095 011 3 183663603 183663772 - 35 90 45 A G 183663689 3720 84 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCCGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945900 183945901 183945901 exon 39 0.4333333 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCCGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 713 135 0.999785 0.9831692 0.9914771 1 0.9922846 0.9682587 0.9371536 NA NA 0.0315263 0.04601566 0.9961423 0.9527061 NA 0.03877098 NA FALSE NA 0 -3.076 . synonymous_variant LOW ABCC5 HGNC 56 ENST00000265586 22/28 rs528691810 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAG A,G 8.274e-06 3:183945901 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 synonymous_variant 0.059605 0.1043 0.0312 0.706548 0.3702501 0 0.8962051 FALSE 8.12533e-06 ENSE00002356095_012 ENSE00002356095 012 3 183663603 183663772 - 35 90 45 C A 183663694 3721 79 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGTCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945905 183945906 183945906 exon 34 0.3777778 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGTCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 71 55 0.9905733 0.9964033 0.9934883 1 0.9922846 0.9682587 0.9371536 NA NA 0.02231459 0.05924972 0.9961423 0.9527061 NA 0.04078216 NA FALSE NA 1 2.377 . missense_variant MODERATE ABCC5 HGNC 56 ENST00000265586 22/28 1 tolerated(0.55) benign(0.015) NA GCC C,A 8.274e-06 3:183945906 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 missense_variant 2.963328 0.99154 0.96365 0.706548 0.993821 0 0.8962051 FALSE 4.0627e-06 ENSE00002356095_013 ENSE00002356095 013 3 183663603 183663772 - 35 90 45 C G 183663704 3722 69 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACCGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945915 183945916 183945916 exon 24 0.2666667 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACCGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 391 114 1 0.9958151 0.9979075 1 0.9922846 0.9682587 0.9371536 NA NA 0.03174129 0.05866152 0.9961423 0.9527061 NA 0.0452014 NA FALSE NA 0 -2.117 NA NA NA ABCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:183945916 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 synonymous_variant 1.661696 0.134 0.04862 0.706548 0.5762811 0 0.8962051 FALSE 4.06289e-06 ENSE00002356095_015 ENSE00002356095 015 3 183663603 183663772 - 35 90 45 C T 183663722 3724 51 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACAGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945933 183945934 183945934 exon 6 0.06666667 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACAGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 1310 975 0.986144 1 0.993072 1 0.9922846 0.9682587 0.9371536 NA NA 0.01788529 0.06284645 0.9961423 0.9527061 NA 0.04036587 NA FALSE NA 0 -2.476 . synonymous_variant LOW ABCC5 HGNC 56 ENST00000265586 22/28 1 NA CCG C,T 4.964e-05 3:183945934 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 synonymous_variant 2.471738 0.16484 0.02696 0.706548 0.5933387 0 0.8962051 FALSE 4.87615e-05 ENSE00002356095_016 ENSE00002356095 016 3 183663603 183663772 - 35 90 45 G A 183663723 3725 50 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAATGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 183945934 183945935 183945935 exon 5 0.05555556 TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAATGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC mutant NA NA NA NA NA 662 610 0.8315216 0.8685133 0.8500174 1 0.9922846 0.9682587 0.9371536 NA NA -0.1367371 -0.06864029 0.9961423 0.9527061 NA -0.1026887 NA FALSE NA 1 9.852 . missense_variant MODERATE ABCC5 HGNC 56 ENST00000265586 22/28 rs547166914 1 deleterious(0) probably_damaging(0.978) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 1.655e-05 3:183945935 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003569634 missense_variant 7.348742 0.99589 0.99597 0.706548 0.9992415 0 0.8962051 FALSE 1.21916e-05 ENSE00002356095_BRK ENSE00002356095 BRK 3 183663603 183663772 - 35 90 45 A,G; T,T NA NA NA TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCTTTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGCCCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC 183945814 183945984 NA NA NA NA NA NA TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCTTTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGCCCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC TATTGATAATGAATTATCTCTTTGATTGTTGTTTTCCATTATCAGTTAACGGGGCTGTTCCAGTTTACGGTCAGACTGGCATCTGAGACAGAAGCTCGATTCACCTCGGTGGAGAGGATCAATCACTACATTAAGGTCAGACTGCTGTAGGCCTTTTACCGTGATCTGAC control NA NA NA NA NA 213 821 0 0.01357723 0.006788613 1 0.9922846 0.9682587 0.9371536 NA NA -0.9682587 -0.9235763 0.9961423 0.9527061 NA -0.9459175 NA TRUE NA NA NA NA NA NA ABCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC5 NA NA NA ENSG00000114770 ENSE00003569634 NA NA NA NA NA NA NA 0.8962051 FALSE NA ENSE00002356125_000 ENSE00002356125 000 9 139312425 139312594 + 44 93 33 NA NA NA NA NA ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 NA NA NA NA NA NA ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT natural NA NA NA NA NA 563 648 0.9779844 0.9738856 0.975935 NA NA 0.9779844 0.9738856 NA NA 0 0 NA 0.975935 NA 0 NA FALSE NA NA NA NA NA NA PMPCA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PMPCA NA NA NA ENSG00000165688 ENSE00003515706 NA NA NA NA NA NA NA 0.0001860505 FALSE NA ENSE00002356125_001 ENSE00002356125 001 9 139312425 139312594 + 44 93 33 A G 139312437 3885 13 ATTGTTTTTCACGTGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136417984 136417985 136417985 upstr_intron -32 -0.7045455 ATTGTTTTTCACGTGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 908 250 0.9977712 0.9987327 0.9982519 NA NA 0.9779844 0.9738856 NA NA 0.01978684 0.02484703 NA 0.975935 NA 0.02231694 NA FALSE NA 0 0.092 . intron_variant MODIFIER PMPCA HGNC 18667 ENST00000444897 1/5 1 NA CAT A,G 1.647e-05 9:136417985 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 intron_variant -0.691244 0.07851 0.01485 0.256867 0.2083808 0.0633933 0.0001860505 FALSE 8.12658e-06 ENSE00002356125_004 ENSE00002356125 004 9 139312425 139312594 + 44 93 33 G A 139312461 3888 37 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTAGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418008 136418009 136418009 upstr_intron -8 -0.1590909 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTAGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 697 778 0.965057 0.9700329 0.9675449 NA NA 0.9779844 0.9738856 NA NA -0.01292739 -0.003852729 NA 0.975935 NA -0.008390061 NA FALSE NA 0 -0.162 rs182330048 splice_region_variant&intron_variant LOW PMPCA HGNC 18667 ENST00000444897 1/5 rs182330048 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGG G,A 8.236e-06 9:136418009 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 splice_region_variant 1.190172 0.24514 0.18165 0.256867 0.7156983 0.381775 0.0001860505 FALSE NA ENSE00002356125_005 ENSE00002356125 005 9 139312425 139312594 + 44 93 33 C T 139312469 3889 45 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGTTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418016 136418017 136418017 exon 1 0.01075269 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGTTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 765 42 0.9750219 0.9539596 0.9644907 NA NA 0.9779844 0.9738856 NA NA -0.00296252 -0.01992602 NA 0.975935 NA -0.01144427 NA FALSE NA 1 1.217 . splice_region_variant&synonymous_variant LOW PMPCA HGNC 18667 ENST00000444897 2/6 rs367842953 1 NA T:0 T:0.0001 GCT C,T 8.236e-06 9:136418017 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 splice_region_variant 1.873597 0.92661 0.8508 0.706548 0.8748629 0 0.0001860505 FALSE 4.06131e-06 ENSE00002356125_006 ENSE00002356125 006 9 139312425 139312594 + 44 93 33 G C 139312476 3890 52 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAACAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418023 136418024 136418024 exon 8 0.08602151 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAACAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 86 766 1 0.9997013 0.9998507 NA NA 0.9779844 0.9738856 NA NA 0.02201561 0.02581571 NA 0.975935 NA 0.02391566 NA FALSE NA 1 5.018 . missense_variant MODERATE PMPCA HGNC 18667 ENST00000444897 2/6 1 tolerated(0.17) benign(0.028) NA AGA G,C 8.236e-06 9:136418024 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 missense_variant 2.326868 0.95305 0.92952 0.706548 0.8704261 0 0.0001860505 FALSE 4.06085e-06 ENSE00002356125_008 ENSE00002356125 008 9 139312425 139312594 + 44 93 33 T C 139312482 3892 58 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACACGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418029 136418030 136418030 exon 14 0.1505376 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACACGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 90 87 0.9451276 1 0.9725638 NA NA 0.9779844 0.9738856 NA NA -0.03285678 0.02611437 NA 0.975935 NA -0.003371206 NA FALSE NA 1 7.809 . missense_variant MODERATE PMPCA HGNC 18667 ENST00000444897 2/6 1 tolerated(0.12) possibly_damaging(0.636) NA ATG T,C 8.236e-06 9:136418030 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 missense_variant 2.639659 0.97048 0.96662 0.706548 0.9837965 0 0.0001860505 FALSE 4.06105e-06 ENSE00002356125_010 ENSE00002356125 010 9 139312425 139312594 + 44 93 33 C T 139312485 3894 61 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTTCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418032 136418033 136418033 exon 17 0.1827957 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTTCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 14 297 1 0.9994858 0.9997429 NA NA 0.9779844 0.9738856 NA NA 0.02201561 0.02560016 NA 0.975935 NA 0.02380789 NA FALSE NA 1 7.593 rs146245454 missense_variant MODERATE PMPCA HGNC 18667 ENST00000444897 2/6 rs146245454 1 deleterious(0.01) probably_damaging(0.944) NA T:0.0002 T:0 TCC C,T 2.471e-05 9:136418033 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 missense_variant 6.223268 0.97619 0.96884 0.706548 0.9983854 0 0.0001860505 FALSE 3.24868e-05 ENSE00002356125_012 ENSE00002356125 012 9 139312425 139312594 + 44 93 33 A G 139312488 3896 64 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAGTGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418035 136418036 136418036 exon 20 0.2150538 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAGTGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 33 27 1 1 1 NA NA 0.9779844 0.9738856 NA NA 0.02201561 0.02611437 NA 0.975935 NA 0.02406499 NA FALSE NA 0.951 2.464 NA NA NA PMPCA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:136418036 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 missense_variant 0.698617 0.8857 0.84128 0.706548 0.9392429 0 0.0001860505 FALSE 2.8425e-05 ENSE00002356125_014 ENSE00002356125 014 9 139312425 139312594 + 44 93 33 C A 139312492 3898 68 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTAAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418039 136418040 136418040 exon 24 0.2580645 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTAAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 133 22 0.9865818 0.986895 0.9867384 NA NA 0.9779844 0.9738856 NA NA 0.008597392 0.01300941 NA 0.975935 NA 0.0108034 NA FALSE NA 1 1.464 . synonymous_variant LOW PMPCA HGNC 18667 ENST00000444897 2/6 1 NA TCA C,A 8.236e-06 9:136418040 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 synonymous_variant 2.181014 0.94124 0.83988 0.706548 0.7391987 0 0.0001860505 FALSE 4.06072e-06 ENSE00002356125_016 ENSE00002356125 016 9 139312425 139312594 + 44 93 33 C T 139312508 3900 84 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCTCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418055 136418056 136418056 exon 40 0.4301075 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCTCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 268 86 1 1 1 NA NA 0.9779844 0.9738856 NA NA 0.02201561 0.02611437 NA 0.975935 NA 0.02406499 NA FALSE NA 1 5.869 . missense_variant MODERATE PMPCA HGNC 18667 ENST00000444897 2/6 1 deleterious(0.04) possibly_damaging(0.842) NA CCC C,T 8.236e-06 9:136418056 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 missense_variant 5.066266 0.9658 0.95251 0.706548 0.9986832 0 0.0001860505 FALSE 2.03036e-05 ENSE00002356125_017 ENSE00002356125 017 9 139312425 139312594 + 44 93 33 C A 139312513 3901 89 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATACCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418060 136418061 136418061 exon 45 0.483871 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATACCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 116 294 0.9778526 0.9895148 0.9836837 NA NA 0.9779844 0.9738856 NA NA -0.0001317852 0.01562915 NA 0.975935 NA 0.007748683 NA FALSE NA 1 1.575 . synonymous_variant LOW PMPCA HGNC 18667 ENST00000444897 2/6 1 NA TCC C,A 8.236e-06 9:136418061 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 synonymous_variant 3.081629 0.93124 0.8839 0.706548 0.7643245 0 0.0001860505 FALSE 4.06072e-06 ENSE00002356125_020 ENSE00002356125 020 9 139312425 139312594 + 44 93 33 C T 139312524 3904 100 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCATGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418071 136418072 136418072 exon -38 0.6021505 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCATGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 289 16 1 1 1 NA NA 0.9779844 0.9738856 NA NA 0.02201561 0.02611437 NA 0.975935 NA 0.02406499 NA FALSE NA 1 7.593 . missense_variant MODERATE PMPCA HGNC 18667 ENST00000444897 2/6 rs375626355 1 deleterious(0.01) probably_damaging(0.946) NA T:0.0002 T:0 ACG C,T 1.647e-05 9:136418072 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 missense_variant 7.493636 0.97611 0.96816 0.706548 0.9992838 0 0.0001860505 FALSE 1.6243e-05 ENSE00002356125_021 ENSE00002356125 021 9 139312425 139312594 + 44 93 33 G A 139312525 3905 101 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACACACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418072 136418073 136418073 exon -37 0.6129032 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACACACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 157 39 0.9912983 0.95 0.9706491 NA NA 0.9779844 0.9738856 NA NA 0.01331388 -0.02388563 NA 0.975935 NA -0.005285878 NA FALSE NA 0 -2.355 . synonymous_variant LOW PMPCA HGNC 18667 ENST00000444897 2/6 rs368269895&COSM3215390&COSM3905677 1 NA A:0.0002 A:0.0001 CGC G,A 3.295e-05 9:136418073 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 synonymous_variant 1.976463 0.4782 0.13544 0.706548 0.7376839 0 0.0001860505 FALSE 2.03042e-05 ENSE00002356125_025 ENSE00002356125 025 9 139312425 139312594 + 44 93 33 C T 139312554 3909 130 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTTCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418101 136418102 136418102 exon -8 0.9247312 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTTCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 14 172 1 1 1 NA NA 0.9779844 0.9738856 NA NA 0.02201561 0.02611437 NA 0.975935 NA 0.02406499 NA FALSE NA 1 7.593 . missense_variant MODERATE PMPCA HGNC 18667 ENST00000444897 2/6 1 deleterious(0.01) probably_damaging(0.985) NA TCC C,T 8.236e-06 9:136418102 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 missense_variant 7.099705 0.97534 0.96744 0.706548 0.9981386 0 0.0001860505 FALSE 1.21834e-05 ENSE00002356125_026 ENSE00002356125 026 9 139312425 139312594 + 44 93 33 C T 139312555 3910 131 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCTTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT 136417972 136418142 136418102 136418103 136418103 exon -7 0.9354839 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCTTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 158 664 0.9997392 1 0.9998696 NA NA 0.9779844 0.9738856 NA NA 0.02175486 0.02611437 NA 0.975935 NA 0.02393461 NA FALSE NA 0.985 0.248 . synonymous_variant LOW PMPCA HGNC 18667 ENST00000444897 2/6 1 NA CCT C,T 1.647e-05 9:136418103 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 synonymous_variant 1.913555 0.92766 0.78831 0.706548 0.7228797 0 0.0001860505 FALSE 8.12242e-06 ENSE00002356125_027 ENSE00002356125 027 9 139312425 139312594 + 44 93 33 G A 139312577 3911 153 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTAGGTCTGATGGCGTTCCT 136417972 136418142 136418124 136418125 136418125 downstr_intron 16 1.5 ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTAGGTCTGATGGCGTTCCT ATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCT mutant NA NA NA NA NA 961 127 0.9977953 1 0.9988977 NA NA 0.9779844 0.9738856 NA NA 0.01981092 0.02611437 NA 0.975935 NA 0.02296264 NA FALSE NA 0 -0.394 . intron_variant MODIFIER PMPCA HGNC 18667 ENST00000444897 2/5 1 NA TGG G,A 6.589e-05 9:136418125 PMPCA HGNC Symbol protein_coding 13191 ENSG00000165688 ENSE00003515706 intron_variant 0.117663 0.22288 0.0709 0.099367 0.7864964 0.0744374 0.0001860505 FALSE 6.90793e-05 ENSE00002356290_000 ENSE00002356290 000 17 60598080 60598249 + 54 72 44 NA NA NA NA NA TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT 62520718 62520888 NA NA NA NA NA NA TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT natural NA NA NA NA NA 771 621 0.9783275 0.9965632 0.9874453 NA NA 0.9783275 0.9965632 NA NA 0 0 NA 0.9874453 NA 0 NA FALSE NA NA NA NA NA NA TLK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLK2 NA NA NA ENSG00000146872 ENSE00003473758 NA NA NA NA NA NA NA 0.9999998 TRUE NA ENSE00002356290_003 ENSE00002356290 003 17 60598080 60598249 + 54 72 44 T G 60598126 2793 47 TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTGCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT 62520718 62520888 62520764 62520765 62520765 upstr_intron -8 -0.1296296 TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTGCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT mutant NA NA NA NA NA 89 23 1 1 1 NA NA 0.9783275 0.9965632 NA NA 0.02167253 0.00343682 NA 0.9874453 NA 0.01255468 NA FALSE NA 0.114 0.543 . splice_region_variant&intron_variant&NMD_transcript_variant LOW TLK2 HGNC 11842 ENST00000583690 4/6 1 NA TTC T,G 2.471e-05 17:62520765 TLK2 HGNC Symbol protein_coding 156823 ENSG00000146872 ENSE00003473758 splice_region_variant -0.269573 0.22908 0.22716 0.099367 0.594613 0.0898158 0.9999998 TRUE 1.22654e-05 ENSE00002356290_004 ENSE00002356290 004 17 60598080 60598249 + 54 72 44 T C 60598129 2794 50 TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTCTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT 62520718 62520888 62520767 62520768 62520768 upstr_intron -5 -0.07407407 TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTCTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT mutant NA NA NA NA NA 446 127 0.9423763 1 0.9711882 NA NA 0.9783275 0.9965632 NA NA -0.03595112 0.00343682 NA 0.9874453 NA -0.01625715 NA FALSE NA 0.772 2.059 . splice_region_variant&intron_variant&NMD_transcript_variant LOW TLK2 HGNC 11842 ENST00000583690 4/6 1 NA TTT T,C 8.236e-06 17:62520768 TLK2 HGNC Symbol protein_coding 156823 ENSG00000146872 ENSE00003473758 splice_region_variant -0.140759 0.35449 0.24413 0.099367 0.6647422 0.0990458 0.9999998 TRUE NA ENSE00002356290_007 ENSE00002356290 007 17 60598080 60598249 + 54 72 44 A G 60598209 2797 130 TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAGGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT 62520718 62520888 62520847 62520848 62520848 downstr_intron 4 1.093023 TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAGGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT mutant NA NA NA NA NA 37 639 1 1 1 NA NA 0.9783275 0.9965632 NA NA 0.02167253 0.00343682 NA 0.9874453 NA 0.01255468 NA FALSE NA 1 7.269 . splice_region_variant&intron_variant&NMD_transcript_variant LOW TLK2 HGNC 11842 ENST00000583690 5/6 1 NA AAG A,G 8.236e-06 17:62520848 TLK2 HGNC Symbol protein_coding 156823 ENSG00000146872 ENSE00003473758 splice_region_variant 1.891093 0.98477 0.99029 0.084033 0.9678424 0.815247 0.9999998 TRUE 4.06587e-06 ENSE00002356290_009 ENSE00002356290 009 17 60598080 60598249 + 54 72 44 C T 60598221 2799 142 TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTTATGGCAGGACTTTTCATACTTGTACGTT 62520718 62520888 62520859 62520860 62520860 downstr_intron 16 1.372093 TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTTATGGCAGGACTTTTCATACTTGTACGTT TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT mutant NA NA NA NA NA 260 24 1 1 1 NA NA 0.9783275 0.9965632 NA NA 0.02167253 0.00343682 NA 0.9874453 NA 0.01255468 NA FALSE NA 0 0.159 NA NA NA TLK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:62520860 TLK2 HGNC Symbol protein_coding 156823 ENSG00000146872 ENSE00003473758 intron_variant 0.019726 0.11513 0.0076 0.084033 0.5032476 0.0448725 0.9999998 TRUE 2.44012e-05 ENSE00002356290_BRK ENSE00002356290 BRK 17 60598080 60598249 + 54 72 44 A,G; T,T NA NA NA TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCTTGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGCCAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT 62520718 62520888 NA NA NA NA NA NA TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCTTGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGCCAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT TTGCTATCCTCTTAGGATTAAAATTTATTTATTTATGATTTTTTTTTCTTTCAGGGACCACTTAATAGTGAGTCTTCCAACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGGTAAGAAGCTATGTTCATGGCAGGACTTTTCATACTTGTACGTT control 403 88 0 0 0 1948 85 0.0009251673 0 0.0004625836 NA NA 0.9783275 0.9965632 NA NA -0.9774023 -0.9965632 NA 0.9874453 NA -0.9869827 NA TRUE NA NA NA NA NA NA TLK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TLK2 NA NA NA ENSG00000146872 ENSE00003473758 NA NA NA NA NA NA NA 0.9999998 TRUE NA ENSE00002356311_000 ENSE00002356311 000 12 104063272 104063441 + 47 87 36 NA NA NA NA NA GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 NA NA NA NA NA NA GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC natural 60 66 0.9908185 0.9722823 0.9815504 1576 2062 0.865847 0.9903475 0.9280973 0.9908185 0.9722823 0.865847 0.9903475 0 0 0 0 0.9815504 0.9280973 0 0 0 FALSE FALSE NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00002356311 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00002356311_001 ENSE00002356311 001 12 104063272 104063441 + 47 87 36 G A 104063283 2782 12 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCTAAGTAGAGCAC 103669493 103669663 103669504 103669505 103669505 upstr_intron -36 -0.7446809 GTGCTCTACTTAGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 2070 1432 0.9762761 0.9401944 0.9582353 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.1104291 -0.05015309 0.9815504 0.9280973 NA 0.03013801 NA FALSE NA 0 -0.435 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 20/68 rs368301274 1 NA A:0 A:0.0001 TGG G,A 8.236e-06 12:103669505 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 intron_variant 0.109228 0.15483 0.02826 0.074388 0.519884 0.0925753 4.175676e-28 FALSE 4.06884e-06 ENSE00002356311_002 ENSE00002356311 002 12 104063272 104063441 + 47 87 36 G A 104063285 2783 14 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCTCCAAGTAGAGCAC 103669493 103669663 103669506 103669507 103669507 upstr_intron -34 -0.7021277 GTGCTCTACTTGGAGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 644 340 0.999762 0.999888 0.999825 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.133915 0.009540469 0.9815504 0.9280973 NA 0.07172772 NA FALSE NA 0 -0.138 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 20/68 rs546229014 1 NA GGG G,A 8.236e-06 12:103669507 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 intron_variant 0.103645 0.17849 0.02143 0.074388 0.4919598 0.0925753 4.175676e-28 FALSE 1.62742e-05 ENSE00002356311_003 ENSE00002356311 003 12 104063272 104063441 + 47 87 36 C A 104063290 2784 19 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTTAACCCCCAAGTAGAGCAC 103669493 103669663 103669511 103669512 103669512 upstr_intron -29 -0.5957447 GTGCTCTACTTGGGGGTTAAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 228 964 1 0.9979095 0.9989547 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.134153 0.007561952 0.9815504 0.9280973 NA 0.07085748 NA FALSE NA 0 -0.298 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 20/68 1 NA TCA C,A 8.236e-06 12:103669512 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 intron_variant 0.411598 0.14407 0.04276 0.074388 0.6844284 0.0925753 4.175676e-28 FALSE 4.06504e-06 ENSE00002356311_004 ENSE00002356311 004 12 104063272 104063441 + 47 87 36 G A 104063297 2785 26 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTTCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669518 103669519 103669519 upstr_intron -22 -0.4468085 GTGCTCTACTTGGGGGTTCAAAGGGAAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 264 200 1 1 1 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.134153 0.009652479 0.9815504 0.9280973 NA 0.07190274 NA FALSE NA 0 -0.424 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 20/68 rs200623593 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGA G,A 8.236e-06 12:103669519 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 intron_variant -0.085826 0.18292 0.02109 0.074388 0.562884 0.0917265 4.175676e-28 FALSE 4.06342e-06 ENSE00002356311_005 ENSE00002356311 005 12 104063272 104063441 + 47 87 36 C A 104063302 2786 31 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCTTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669523 103669524 103669524 upstr_intron -17 -0.3404255 GTGCTCTACTTGGGGGTTCAAAGGGGAACAAGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant 46 12 0 0 0 NA NA NA NA NA 0.9908185 0.9722823 0.865847 0.9903475 -0.9908185 -0.9722823 NA NA 0.9815504 0.9280973 -0.9815504 NA NA NA TRUE 0 -2.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103669524 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 intron_variant 0.278854 0.15168 0.01845 0.074388 0.6571315 0.0917265 4.175676e-28 FALSE 4.06256e-06 ENSE00002356311_006 ENSE00002356311 006 12 104063272 104063441 + 47 87 36 C T 104063302 2787 31 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCATGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669523 103669524 103669524 upstr_intron -17 -0.3404255 GTGCTCTACTTGGGGGTTCAAAGGGGAACATGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant 20 33 0.9509201 0.922167 0.9365435 33 182 0.9987462 0.9997906 0.9992684 0.9908185 0.9722823 0.865847 0.9903475 -0.03989842 -0.05011532 0.1328992 0.009443102 0.9815504 0.9280973 -0.04500687 0.07117115 0.116178 FALSE FALSE 0 -2.11 NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00002356311 intron_variant 0.264638 0.14053 0.00795 0.074388 0.6524854 0.0917265 4.175676e-28 FALSE 5.68759e-05 ENSE00002356311_008 ENSE00002356311 008 12 104063272 104063441 + 47 87 36 G A 104063310 2789 39 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAATAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669531 103669532 103669532 upstr_intron -9 -0.1702128 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTATTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 67 47 0.8205777 1 0.9102888 0.9908185 0.9722823 0.865847 0.9903475 NA NA -0.04526935 0.009652479 0.9815504 0.9280973 NA -0.01780844 NA FALSE NA 1 1.53 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 20/68 1 NA TGT G,A 8.236e-06 12:103669532 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 intron_variant 1.678118 0.34148 0.20001 0.074388 0.6851409 0.205914 4.175676e-28 FALSE 1.21868e-05 ENSE00002356311_009 ENSE00002356311 009 12 104063272 104063441 + 47 87 36 A G 104063334 2790 63 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTCGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669555 103669556 103669556 exon 16 0.183908 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCGAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 829 1298 0.843436 0.9966162 0.9200261 0.9908185 0.9722823 0.865847 0.9903475 NA NA -0.022411 0.006268654 0.9815504 0.9280973 NA -0.008071175 NA FALSE NA 0.998 1.451 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 21/69 1 deleterious(0) benign(0.017) NA CAA A,G 8.236e-06 12:103669556 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 missense_variant 3.763428 0.96732 0.81678 0.497415 0.9907533 0 4.175676e-28 FALSE 4.06128e-06 ENSE00002356311_010 ENSE00002356311 010 12 104063272 104063441 + 47 87 36 C T 104063339 2791 68 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAACCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669560 103669561 103669561 exon 21 0.2413793 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGTTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 1377 341 0.9970995 0.9911599 0.9941297 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.1312525 0.000812359 0.9815504 0.9280973 NA 0.06603244 NA FALSE NA 0.991 0.078 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 21/69 1 NA GCT C,T 8.236e-06 12:103669561 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 synonymous_variant 1.575616 0.96447 0.57513 0.497415 0.7182849 0 4.175676e-28 FALSE 4.06111e-06 ENSE00002356311_012 ENSE00002356311 012 12 104063272 104063441 + 47 87 36 G C 104063363 2793 92 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACAGTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669584 103669585 103669585 exon -43 0.5172414 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCACTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 816 135 0.998426 0.9988267 0.9986263 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.132579 0.008479167 0.9815504 0.9280973 NA 0.07052908 NA FALSE NA 0.054 -0.356 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 21/69 1 deleterious(0) possibly_damaging(0.726) NA AGT G,C 8.236e-06 12:103669585 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 missense_variant 4.730027 0.96246 0.26074 0.497415 0.9964975 0 4.175676e-28 FALSE 4.06124e-06 ENSE00002356311_013 ENSE00002356311 013 12 104063272 104063441 + 47 87 36 G T 104063365 2794 94 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGAAACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669586 103669587 103669587 exon -41 0.5402299 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTTTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 171 1037 1 0.9998531 0.9999265 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.134153 0.009505548 0.9815504 0.9280973 NA 0.07182927 NA FALSE NA 1 8.98 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103669587 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 missense_variant 6.760469 0.99325 0.98738 0.497415 0.99132 0 4.175676e-28 FALSE 4.06128e-06 ENSE00002356311_014 ENSE00002356311 014 12 104063272 104063441 + 47 87 36 G A 104063365 2795 94 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGATACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669586 103669587 103669587 exon -41 0.5402299 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTATCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 779 560 0.9901614 0.9954542 0.9928078 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.1243144 0.005106686 0.9815504 0.9280973 NA 0.06471055 NA FALSE NA 1 8.98 NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00002356311 missense_variant 6.353955 0.99305 0.98511 0.497415 0.998074 0 4.175676e-28 FALSE 8.12255e-06 ENSE00002356311_016 ENSE00002356311 016 12 104063272 104063441 + 47 87 36 T C 104063376 2797 105 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAGGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669597 103669598 103669598 exon -30 0.6666667 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCCTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 334 57 1 0.9590513 0.9795256 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.134153 -0.03129624 0.9815504 0.9280973 NA 0.05142838 NA FALSE NA 1 2.949 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 21/69 1 deleterious(0.04) benign(0.029) NA CTT T,C 8.236e-06 12:103669598 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 missense_variant 2.903257 0.97848 0.86109 0.497415 0.9947897 0 4.175676e-28 FALSE 4.06121e-06 ENSE00002356311_017 ENSE00002356311 017 12 104063272 104063441 + 47 87 36 T C 104063379 2798 108 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGGGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669600 103669601 103669601 exon -27 0.7011494 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCCCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 273 255 1 0.97435 0.987175 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.134153 -0.0159975 0.9815504 0.9280973 NA 0.05907775 NA FALSE NA 0.008 0.043 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 21/69 1 deleterious(0.04) possibly_damaging(0.567) NA CTC T,C 4.118e-05 12:103669601 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 missense_variant 3.256001 0.48679 0.0565 0.497415 0.9974194 0 4.175676e-28 FALSE 2.84294e-05 ENSE00002356311_020 ENSE00002356311 020 12 104063272 104063441 + 47 87 36 C T 104063392 2801 121 GATTTGACTTATGGAAGGCCAGTCTTCAGTATTCACCTGTCCATTTCCTAAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669613 103669614 103669614 exon -14 0.8505747 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTTAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant 36 59 0.9018805 0.85 0.8759402 502 40 0.9292938 0.9383461 0.93382 0.9908185 0.9722823 0.865847 0.9903475 -0.08893804 -0.1222823 0.06344677 -0.05200138 0.9815504 0.9280973 -0.1056102 0.005722695 0.1113329 FALSE FALSE 0.997 2.737 rs149144166 missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 21/69 rs149144166 1 tolerated(0.08) probably_damaging(0.996) NA T:0 T:0.0001 TCA C,T 6.589e-05 12:103669614 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 missense_variant 5.766377 0.98787 0.91671 0.497415 0.998993 0 4.175676e-28 FALSE 9.74873e-05 ENSE00002356311_021 ENSE00002356311 021 12 104063272 104063441 + 47 87 36 A T 104063393 2802 122 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCTGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC 103669493 103669663 103669614 103669615 103669615 exon -13 0.862069 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCTGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 250 151 1 1 1 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.134153 0.009652479 0.9815504 0.9280973 NA 0.07190274 NA FALSE NA 0 -5.323 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 21/69 rs373978793 1 NA T:0 T:0.0001 CAG A,T 2.471e-05 12:103669615 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 synonymous_variant -1.18443 0.01961 0.00705 0.497415 0.6272433 0 4.175676e-28 FALSE 2.43716e-05 ENSE00002356311_023 ENSE00002356311 023 12 104063272 104063441 + 47 87 36 C T 104063420 2804 149 GATTTGACTTATGGAAGGCCAATCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669641 103669642 103669642 downstr_intron 15 1.428571 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGATTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 290 613 1 0.9997419 0.999871 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.134153 0.009394395 0.9815504 0.9280973 NA 0.0717737 NA FALSE NA 0 -0.305 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 21/68 1 NA ACT C,T 8.236e-06 12:103669642 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 intron_variant -0.16484 0.07316 0.00475 0.093295 0.2918359 0.0455939 4.175676e-28 FALSE 4.07445e-06 ENSE00002356311_025 ENSE00002356311 025 12 104063272 104063441 + 47 87 36 G C 104063422 2806 151 GATTTGACTTATGGAAGGCGAGTCTTCAGTATTCACCTGTCCATTTCCTGAGCATGGATTTGAGAAGCCTCCTGGACACTGGTTGCAGTCAGGTCCATAGAAGCCTTTGCAGCACTTTGGAATCTGAAAAACAAAATGCGTGTTCCCCTTTGAACCCCCAAGTAGAGCAC 103669493 103669663 103669643 103669644 103669644 downstr_intron 17 1.485714 GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTCGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC mutant NA NA NA NA NA 449 479 0.9996585 0.9963506 0.9980046 0.9908185 0.9722823 0.865847 0.9903475 NA NA 0.1338115 0.00600307 0.9815504 0.9280973 NA 0.0699073 NA FALSE NA 0 0.189 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 21/68 rs376662696 1 NA C:0 C:0.0002 TGG G,C 8.236e-06 12:103669644 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002356311 intron_variant -0.14656 0.24745 0.01998 0.093295 0.4039092 0.0455939 4.175676e-28 FALSE 8.15634e-06 ENSE00002356311_BRK ENSE00002356311 BRK 12 104063272 104063441 + 47 87 36 A,G; T,T NA NA NA GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCTTATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGCCGAATACTGAAGACTGGCCTTCCATAAGTCAAATC 103669493 103669663 NA NA NA NA NA NA GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCTTATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGCCGAATACTGAAGACTGGCCTTCCATAAGTCAAATC GTGCTCTACTTGGGGGTTCAAAGGGGAACACGCATTTTGTTTTTCAGATTCCAAAGTGCTGCAAAGGCTTCTATGGACCTGACTGCAACCAGTGTCCAGGAGGCTTCTCAAATCCATGCTCAGGAAATGGACAGGTGAATACTGAAGACTGGCCTTCCATAAGTCAAATC control 41 231 0 0 0 NA NA NA NA NA 0.9908185 0.9722823 0.865847 0.9903475 -0.9908185 -0.9722823 NA NA 0.9815504 0.9280973 -0.9815504 NA NA NA TRUE NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00002356311 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00002356780_000 ENSE00002356780 000 6 90305594 90305763 + 41 99 30 NA NA NA NA NA GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 NA NA NA NA NA NA GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG natural 115 92 0.9952252 0.9990216 0.9971234 2505 4709 0.9415944 0.9442776 0.942936 0.9952252 0.9990216 0.9415944 0.9442776 0 0 0 0 0.9971234 0.942936 0 0 0 FALSE FALSE NA NA NA NA NA ANKRD6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD6 NA NA NA ENSG00000135299 ENSE00003476176 NA NA NA NA NA NA NA 3.487691e-07 FALSE NA ENSE00002356780_BRK ENSE00002356780 BRK 6 90305594 90305763 + 41 99 30 A,G; T,T NA NA NA GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACTTCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATCCGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 NA NA NA NA NA NA GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACTTCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATCCGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG control 83 69 0 0 0 NA NA NA NA NA 0.9952252 0.9990216 0.9415944 0.9442776 -0.9952252 -0.9990216 NA NA 0.9971234 0.942936 -0.9971234 NA NA NA TRUE NA NA NA NA NA ANKRD6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD6 NA NA NA ENSG00000135299 ENSE00003476176 NA NA NA NA NA NA NA 3.487691e-07 FALSE NA ENSE00002356908_000 ENSE00002356908 000 2 173356112 173356281 + 41 99 30 NA NA NA NA NA ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 NA NA NA NA NA NA ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC natural 223 286 0.996728 0.9839803 0.9903542 6372 10675 0.9350845 0.9197644 0.9274245 0.996728 0.9839803 0.9350845 0.9197644 0 0 0 0 0.9903542 0.9274245 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003604248 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00002356908_012 ENSE00002356908 012 2 173356112 173356281 + 41 99 30 G A 173356192 3236 81 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAACCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491463 172491464 172491464 exon 40 0.4040404 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAACCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 177 1278 1 0.9991028 0.9995514 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06491549 0.07933833 0.9903542 0.9274245 NA 0.07212691 NA FALSE NA 1 8.573 NA NA NA ITGA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGA6 NA NA NA ENSG00000091409 ENSE00003604248 missense_variant 6.749859 0.99239 0.99201 0.706298 0.9991334 0 0.009913603 FALSE 2.88822e-05 ENSE00002356908_BRK ENSE00002356908 BRK 2 173356112 173356281 + 41 99 30 A,G; T,T NA NA NA ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACTTGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGCCGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 NA NA NA NA NA NA ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACTTGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGCCGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC control 119 300 0.02195026 0.01525497 0.01860262 323 127 0 0 0 0.996728 0.9839803 0.9350845 0.9197644 -0.9747778 -0.9687254 -0.9350845 -0.9197644 0.9903542 0.9274245 -0.9717516 -0.9274245 0.0443271 TRUE TRUE NA NA NA NA NA ITGA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ITGA6 NA NA NA ENSG00000091409 ENSE00003604248 NA NA NA NA NA NA NA 0.009913603 FALSE NA ENSE00002356965_000 ENSE00002356965 000 6 37440139 37440308 + 56 69 45 NA NA NA NA NA ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 NA NA NA NA NA NA ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC natural 76 106 0.9954163 0.992204 0.9938102 4949 4355 0.9761455 0.9931035 0.9846245 0.9954163 0.992204 0.9761455 0.9931035 0 0 0 0 0.9938102 0.9846245 0 0 0 FALSE FALSE NA NA NA NA NA CMTR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CMTR1 NA NA NA ENSG00000137200 ENSE00002455188 NA NA NA NA NA NA NA 0.9992949 TRUE NA ENSE00002356965_001 ENSE00002356965 001 6 37440139 37440308 + 56 69 45 T A 37440160 1229 22 ACGGTCTTGGTCAAAAGGGCAATTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472383 37472384 37472384 upstr_intron -35 -0.6071429 ACGGTCTTGGTCAAAAGGGCAATTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 332 498 1 0.9983009 0.9991504 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02385452 0.005197365 0.9938102 0.9846245 NA 0.01452594 NA FALSE NA 0.001 -0.175 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 1 NA ATT T,A 8.236e-06 6:37472384 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant 1.077066 0.16257 0.037 0.115753 0.8640957 0.046323 0.9992949 TRUE 4.06141e-06 ENSE00002356965_002 ENSE00002356965 002 6 37440139 37440308 + 56 69 45 A G 37440165 1230 27 ACGGTCTTGGTCAAAAGGGCATTTGAGAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472388 37472389 37472389 upstr_intron -30 -0.5178571 ACGGTCTTGGTCAAAAGGGCATTTGAGAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 74 554 0.9943025 1 0.9971513 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.01815704 0.006896512 0.9938102 0.9846245 NA 0.01252678 NA FALSE NA 0.07 2.416 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 rs368660572 1 NA G:0 G:0.0001 AAA A,G 8.236e-06 6:37472389 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant 0.534904 0.26759 0.48297 0.115753 0.6844883 0.046323 0.9992949 TRUE 4.06114e-06 ENSE00002356965_003 ENSE00002356965 003 6 37440139 37440308 + 56 69 45 A C 37440166 1231 28 ACGGTCTTGGTCAAAAGGGCATTTGAACGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472389 37472390 37472390 upstr_intron -29 -0.5 ACGGTCTTGGTCAAAAGGGCATTTGAACGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 151 477 1 0.9896331 0.9948165 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02385452 -0.003470409 0.9938102 0.9846245 NA 0.01019206 NA FALSE NA 0.066 1.701 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 1 NA AAG A,C 1.647e-05 6:37472390 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant 0.00722 0.28621 0.25979 0.115753 0.7011062 0.046323 0.9992949 TRUE 3.65497e-05 ENSE00002356965_004 ENSE00002356965 004 6 37440139 37440308 + 56 69 45 A C 37440172 1232 34 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAACGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472395 37472396 37472396 upstr_intron -23 -0.3928571 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAACGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 365 474 1 1 1 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02385452 0.006896512 0.9938102 0.9846245 NA 0.01537552 NA FALSE NA 0 0.426 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 1 NA AAG A,C 8.236e-06 6:37472396 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant -0.252964 0.17324 0.02518 0.115753 0.6024591 0.0666035 0.9992949 TRUE 4.06091e-06 ENSE00002356965_005 ENSE00002356965 005 6 37440139 37440308 + 56 69 45 C T 37440174 1233 36 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGTTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472397 37472398 37472398 upstr_intron -21 -0.3571429 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGTTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 113 132 1 1 1 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02385452 0.006896512 0.9938102 0.9846245 NA 0.01537552 NA FALSE NA 0 -0.696 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 1 NA GCT C,T 8.236e-06 6:37472398 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant 0.403728 0.20477 0.04044 0.115753 0.7760794 0.0666035 0.9992949 TRUE 8.12163e-06 ENSE00002356965_007 ENSE00002356965 007 6 37440139 37440308 + 56 69 45 T C 37440186 1235 48 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCCTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472409 37472410 37472410 upstr_intron -9 -0.1428571 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCCTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 988 1230 0.9993735 0.9142596 0.9568166 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02322804 -0.07884388 0.9938102 0.9846245 NA -0.02780792 NA FALSE NA 0.009 2.061 rs112353319 upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 rs112353319 1 C:0.0048 C:0.0174 C:0.0014 NA C:0 C:0 C:0 C:0.0188 C:0.0003 CTT T,C 0.00201 6:37472410 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant 1.703798 0.33387 0.31902 0.256867 0.7804559 0.181658 0.9992949 TRUE 0.00154306 ENSE00002356965_008 ENSE00002356965 008 6 37440139 37440308 + 56 69 45 C A 37440204 1236 66 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACAAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472427 37472428 37472428 exon 10 0.1449275 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACAAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 1093 1234 0.9966973 0.9955769 0.9961371 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02055183 0.002473395 0.9938102 0.9846245 NA 0.01151261 NA FALSE NA 1 3.894 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 1 NA CCA C,A 8.236e-06 6:37472428 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 missense_variant 2.15692 0.9793 0.96136 0.732398 0.854185 0 0.9992949 TRUE 4.06058e-06 ENSE00002356965_009 ENSE00002356965 009 6 37440139 37440308 + 56 69 45 T A 37440218 1237 80 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCACCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472441 37472442 37472442 exon 24 0.3478261 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCACCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 683 1025 0.9959706 0.9996651 0.9978179 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.0198251 0.006561654 0.9938102 0.9846245 NA 0.01319338 NA FALSE NA 0.995 0.207 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 1 NA CTC T,A 8.236e-06 6:37472442 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 synonymous_variant 1.143119 0.96433 0.95276 0.732398 0.7131943 0 0.9992949 TRUE 4.06098e-06 ENSE00002356965_010 ENSE00002356965 010 6 37440139 37440308 + 56 69 45 C T 37440230 1238 92 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCTGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472453 37472454 37472454 exon -34 0.5217391 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCTGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 1355 3019 0.999024 0.9986059 0.998815 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02287856 0.005502382 0.9938102 0.9846245 NA 0.01419047 NA FALSE NA 0.214 -0.358 rs184294201 upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 rs184294201 1 T:0.0012 T:0 T:0 NA T:0.006 T:0 T:0 CCG C,T 0.000766 6:37472454 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 synonymous_variant 1.794142 0.93544 0.28374 0.732398 0.620817 0 0.9992949 TRUE 0.000828366 ENSE00002356965_011 ENSE00002356965 011 6 37440139 37440308 + 56 69 45 G A 37440231 1239 93 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCAACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472454 37472455 37472455 exon -33 0.5362319 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCAACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 266 915 1 0.9952729 0.9976365 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02385452 0.002169431 0.9938102 0.9846245 NA 0.01301198 NA FALSE NA 1 8.678 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:37472455 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 missense_variant 3.791403 0.99412 0.99841 0.732398 0.9988175 0 0.9992949 TRUE 1.21824e-05 ENSE00002356965_012 ENSE00002356965 012 6 37440139 37440308 + 56 69 45 G C 37440231 1240 93 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCCACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472454 37472455 37472455 exon -33 0.5362319 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCCACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 400 4694 0.983881 0.8953792 0.9396301 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.007735562 -0.09772428 0.9938102 0.9846245 NA -0.04499436 NA FALSE NA 1 8.678 NA NA NA CMTR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CMTR1 NA NA NA ENSG00000137200 ENSE00002455188 missense_variant 6.322307 0.99446 0.99864 0.732398 0.9955532 0 0.9992949 TRUE 4.06081e-06 ENSE00002356965_013 ENSE00002356965 013 6 37440139 37440308 + 56 69 45 G C 37440242 1241 104 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCCAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472465 37472466 37472466 exon -22 0.6956522 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCCAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 672 974 0.9975243 0.9998376 0.998681 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02137885 0.006734104 0.9938102 0.9846245 NA 0.01405648 NA FALSE NA 0.998 0.519 rs148292601 upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 rs148292601&COSM186968 1 NA C:0 C:0.0001 CGA G,C 8.236e-06 6:37472466 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 synonymous_variant 0.217542 0.95751 0.39622 0.732398 0.4424818 0 0.9992949 TRUE 4.06081e-06 ENSE00002356965_014 ENSE00002356965 014 6 37440139 37440308 + 56 69 45 T C 37440259 1242 121 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAACCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472482 37472483 37472483 exon -5 0.942029 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAACCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 373 858 0.9995889 0.9942714 0.9969302 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02344344 0.001167952 0.9938102 0.9846245 NA 0.0123057 NA FALSE NA 1 4.008 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 rs200087608&COSM3873595 1 C:0.0008 C:0 C:0 NA C:0.002 C:0 C:0.002 ATC T,C 0.0002224 6:37472483 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 missense_variant 2.344865 0.98503 0.98382 0.732398 0.9915812 0 0.9992949 TRUE 0.000251762 ENSE00002356965_015 ENSE00002356965 015 6 37440139 37440308 + 56 69 45 G A 37440273 1243 135 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGATATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472496 37472497 37472497 downstr_intron 10 1.227273 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGATATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 244 218 0.9998312 1 0.9999156 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.02368574 0.006896512 0.9938102 0.9846245 NA 0.01529113 NA FALSE NA 0.001 -0.159 NA NA NA CMTR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:37472497 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant 1.113645 0.20901 0.03591 0.088506 0.664916 0.127824 0.9992949 TRUE 7.71555e-05 ENSE00002356965_017 ENSE00002356965 017 6 37440139 37440308 + 56 69 45 G A 37440282 1245 144 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGATGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 37472505 37472506 37472506 downstr_intron 19 1.431818 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGATGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 745 2042 0.9938244 0.9939416 0.993883 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.01767891 0.0008380746 0.9938102 0.9846245 NA 0.009258493 NA FALSE NA 0.003 -0.219 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 1 NA GGT G,A 8.236e-06 6:37472506 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant 0.293742 0.16857 0.0469 0.088506 0.5778912 0.115236 0.9992949 TRUE 4.06128e-06 ENSE00002356965_018 ENSE00002356965 018 6 37440139 37440308 + 56 69 45 A G 37440288 1246 150 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACGTAAAAAGTTAGAGATCTGTC 37472362 37472532 37472511 37472512 37472512 downstr_intron 25 1.568182 ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACGTAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC mutant NA NA NA NA NA 846 222 0.9917464 1 0.9958732 0.9954163 0.992204 0.9761455 0.9931035 NA NA 0.01560094 0.006896512 0.9938102 0.9846245 NA 0.01124873 NA FALSE NA 0 0.135 . upstream_gene_variant MODIFIER CMTR1 HGNC 21077 ENST00000475364 rs200896589 1 NA G:0 G:0.0003 CAT A,G 0.0001318 6:37472512 CMTR1 HGNC Symbol protein_coding 49608 ENSG00000137200 ENSE00002455188 intron_variant 0.230845 0.15333 0.01843 0.088506 0.6450928 0.115236 0.9992949 TRUE 0.0001381 ENSE00002356965_BRK ENSE00002356965 BRK 6 37440139 37440308 + 56 69 45 A,G; T,T NA NA NA ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCTTATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGCCAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC 37472362 37472532 NA NA NA NA NA NA ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCTTATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGCCAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC ACGGTCTTGGTCAAAAGGGCATTTGAAAGTCAAAGCTCTTTGCTGTCTTATTTCAGATCCCAGACCAGGCTCGTGTGGCTCCTTCTTCCTCCGACCCTAAATCGAAGTTCTTTGAGCTAATCCAGGTAAGACTGGTATCTGTGGTGGACATAAAAAGTTAGAGATCTGTC control 56 33 0 0 0 508 201 0.008406861 0 0.004203431 0.9954163 0.992204 0.9761455 0.9931035 -0.9954163 -0.992204 -0.9677386 -0.9931035 0.9938102 0.9846245 -0.9938102 -0.9804211 0.01338912 TRUE TRUE NA NA NA NA NA CMTR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CMTR1 NA NA NA ENSG00000137200 ENSE00002455188 NA NA NA NA NA NA NA 0.9992949 TRUE NA ENSE00002357218_000 ENSE00002357218 000 7 150939191 150939360 - 32 96 42 NA NA NA NA NA CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 NA NA NA NA NA NA CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG natural 164 324 0.8193889 0.9056141 0.8625015 2952 2866 0.953668 0.8533921 0.9035301 0.8193889 0.9056141 0.953668 0.8533921 0 0 0 0 0.8625015 0.9035301 0 0 0 FALSE FALSE NA NA NA NA NA SMARCD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMARCD3 NA NA NA ENSG00000082014 ENSE00003599198 NA NA NA NA NA NA NA 0.2319184 FALSE NA ENSE00002357218_001 ENSE00002357218 001 7 150939191 150939360 - 32 96 42 G A 150939201 3145 160 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGTCCTTGAATTG 151242104 151242274 151242114 151242115 151242115 downstr_intron 22 1.709677 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGTCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 44 97 1 1 1 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04633195 0.1466079 0.8625015 0.9035301 NA 0.09646991 NA FALSE NA 0 0.386 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA GGC G,A 8.236e-06 7:151242115 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 intron_variant -0.651489 0.24348 0.26976 0 0.7069668 0.183812 0.2319184 FALSE NA ENSE00002357218_004 ENSE00002357218 004 7 150939191 150939360 - 32 96 42 G A 150939207 3148 154 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCTCTCCGCCCTTGAATTG 151242104 151242274 151242120 151242121 151242121 downstr_intron 16 1.516129 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCTCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 166 190 0.9934738 0.9895516 0.9915127 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.03980579 0.1361595 0.8625015 0.9035301 NA 0.08798262 NA FALSE NA 0 -0.181 rs185924833 upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 rs185924833 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGG G,A 2.471e-05 7:151242121 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 intron_variant -0.455696 0.27247 0.16881 0 0.6583142 0.12627 0.2319184 FALSE 1.21836e-05 ENSE00002357218_005 ENSE00002357218 005 7 150939191 150939360 - 32 96 42 G A 150939209 3149 152 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGTCCCTCCGCCCTTGAATTG 151242104 151242274 151242122 151242123 151242123 downstr_intron 14 1.451613 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGTCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 576 618 1 0.9996823 0.9998411 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04633195 0.1462901 0.8625015 0.9035301 NA 0.09631105 NA FALSE NA 0 -0.198 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 rs375960569 1 NA A:0.0002 A:0 GGC G,A 2.471e-05 7:151242123 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 intron_variant -0.697069 0.21377 0.06231 0.060467 0.6359807 0.12627 0.2319184 FALSE 8.12196e-06 ENSE00002357218_006 ENSE00002357218 006 7 150939191 150939360 - 32 96 42 C A 150939210 3150 151 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGATCCCCTCCGCCCTTGAATTG 151242104 151242274 151242123 151242124 151242124 downstr_intron 13 1.419355 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGATCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 56 619 1 0.9975022 0.9987511 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04633195 0.1441101 0.8625015 0.9035301 NA 0.09522102 NA FALSE NA 0 -0.584 NA NA NA SMARCD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:151242124 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 intron_variant -0.549309 0.12929 0.01099 0.060467 0.5952676 0.180626 0.2319184 FALSE 2.84271e-05 ENSE00002357218_008 ENSE00002357218 008 7 150939191 150939360 - 32 96 42 T C 150939214 3152 147 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCGAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242127 151242128 151242128 downstr_intron 9 1.290323 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCGAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 491 442 0.9724623 0.8535078 0.912985 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.01879423 0.0001156322 0.8625015 0.9035301 NA 0.009454933 NA FALSE NA 0.001 0.066 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA TTG T,C 8.236e-06 7:151242128 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 intron_variant -0.857677 0.23058 0.10841 0.060467 0.5167337 0.176013 0.2319184 FALSE 4.06085e-06 ENSE00002357218_009 ENSE00002357218 009 7 150939191 150939360 - 32 96 42 G C 150939215 3153 146 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACGAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242128 151242129 151242129 downstr_intron 8 1.258065 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACGAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 192 900 1 1 1 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04633195 0.1466079 0.8625015 0.9035301 NA 0.09646991 NA FALSE NA 0 -0.484 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA TGG G,C 6.589e-05 7:151242129 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 splice_region_variant -1.383329 0.26268 0.14596 0.060467 0.5648587 0.176013 0.2319184 FALSE 4.46693e-05 ENSE00002357218_010 ENSE00002357218 010 7 150939191 150939360 - 32 96 42 T C 150939220 3154 141 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTGAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242133 151242134 151242134 downstr_intron 3 1.096774 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTGAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 490 121 0.01463681 0.01543783 0.01503732 0.8193889 0.9056141 0.953668 0.8533921 NA NA -0.9390312 -0.8379543 0.8625015 0.9035301 NA -0.8884928 NA TRUE NA 0.991 -0.055 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA TTA T,C 6.589e-05 7:151242134 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 splice_region_variant 0.032216 0.88146 0.61151 0.060467 0.612727 0.374534 0.2319184 FALSE 9.33972e-05 ENSE00002357218_012 ENSE00002357218 012 7 150939191 150939360 - 32 96 42 A G 150939250 3156 111 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTCTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242163 151242164 151242164 exon -28 0.71875 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTCTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 345 369 0.9983179 1 0.999159 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04464989 0.1466079 0.8625015 0.9035301 NA 0.09562888 NA FALSE NA 0.001 -1.858 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA AAA A,G 8.236e-06 7:151242164 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 synonymous_variant -0.478824 0.89841 0.23214 0.660377 0.7231513 0 0.2319184 FALSE 4.06068e-06 ENSE00002357218_013 ENSE00002357218 013 7 150939191 150939360 - 32 96 42 C T 150939267 3157 94 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCAAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242180 151242181 151242181 exon -45 0.5416667 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCAAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 422 316 1 1 1 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04633195 0.1466079 0.8625015 0.9035301 NA 0.09646991 NA FALSE NA 1 7.82 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA TCG C,T 8.236e-06 7:151242181 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 missense_variant 6.870143 0.96859 0.97074 0.634777 0.9993396 0 0.2319184 FALSE 4.06088e-06 ENSE00002357218_014 ENSE00002357218 014 7 150939191 150939360 - 32 96 42 G A 150939268 3158 93 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATTGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242181 151242182 151242182 exon -46 0.53125 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATTGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 96 976 0.9902806 0.9992557 0.9947682 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.03661258 0.1458635 0.8625015 0.9035301 NA 0.09123806 NA FALSE NA 1 0.975 rs141935992 upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 rs141935992 1 A:0.0008 A:0.003 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 CGA G,A 0.0001318 7:151242182 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 synonymous_variant 0.742406 0.89721 0.35437 0.634777 0.8563324 0 0.2319184 FALSE 0.000105583 ENSE00002357218_015 ENSE00002357218 015 7 150939191 150939360 - 32 96 42 G A 150939293 3159 68 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTTTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242206 151242207 151242207 exon 26 0.2708333 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTTTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 141 250 0.8498482 0.9882073 0.9190277 0.8193889 0.9056141 0.953668 0.8533921 NA NA -0.1038199 0.1348151 0.8625015 0.9035301 NA 0.01549763 NA FALSE NA 1 6.684 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA AGA G,A 8.236e-06 7:151242207 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 missense_variant 5.807811 0.96886 0.96891 0.660377 0.9982966 0 0.2319184 FALSE 8.12222e-06 ENSE00002357218_016 ENSE00002357218 016 7 150939191 150939360 - 32 96 42 C T 150939301 3160 60 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGAAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242214 151242215 151242215 exon 18 0.1875 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGAAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 325 979 0.9987268 0.9684758 0.9836013 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04505877 0.1150836 0.8625015 0.9035301 NA 0.0800712 NA FALSE NA 0.983 0.276 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA TCC C,T 2.471e-05 7:151242215 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 synonymous_variant 0.931514 0.93094 0.82231 0.660377 0.8961273 0 0.2319184 FALSE 2.43686e-05 ENSE00002357218_017 ENSE00002357218 017 7 150939191 150939360 - 32 96 42 C T 150939302 3161 59 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCAGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242215 151242216 151242216 exon 17 0.1770833 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCAGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 222 680 1 1 1 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04633195 0.1466079 0.8625015 0.9035301 NA 0.09646991 NA FALSE NA 1 4.836 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA CCG C,T 2.471e-05 7:151242216 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 missense_variant 3.994684 0.95024 0.87638 0.660377 0.9988652 0 0.2319184 FALSE 1.62464e-05 ENSE00002357218_018 ENSE00002357218 018 7 150939191 150939360 - 32 96 42 G A 150939303 3162 58 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGTGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242216 151242217 151242217 exon 16 0.1666667 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGTGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 1317 354 0.9972258 0.9977596 0.9974927 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04355778 0.1443675 0.8625015 0.9035301 NA 0.09396262 NA FALSE NA 1 0.818 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA CGC G,A 8.236e-06 7:151242217 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 missense_variant 4.729464 0.93713 0.8825 0.660377 0.9989782 0 0.2319184 FALSE 8.12427e-06 ENSE00002357218_019 ENSE00002357218 019 7 150939191 150939360 - 32 96 42 C T 150939314 3163 47 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAACAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242227 151242228 151242228 exon 5 0.05208333 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAACAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 188 154 0.9439823 1 0.9719911 0.8193889 0.9056141 0.953668 0.8533921 NA NA -0.009685749 0.1466079 0.8625015 0.9035301 NA 0.06846106 NA FALSE NA 1 0.884 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA GCT C,T 8.236e-06 7:151242228 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 missense_variant 1.862594 0.95398 0.8929 0.660377 0.9765392 0 0.2319184 FALSE 4.06339e-06 ENSE00002357218_021 ENSE00002357218 021 7 150939191 150939360 - 32 96 42 G C 150939327 3165 34 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTGTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242240 151242241 151242241 upstr_intron -9 -0.1904762 CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTGTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 154 866 0.9959955 1 0.9979977 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04232744 0.1466079 0.8625015 0.9035301 NA 0.09446765 NA FALSE NA 0.042 0.445 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 rs373461865 1 NA C:0 C:0.0001 AGA G,C 8.236e-06 7:151242241 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 non_coding_transcript_exon_variant -0.157179 0.27404 0.488 0 0.6640654 0.175859 0.2319184 FALSE 8.13068e-06 ENSE00002357218_023 ENSE00002357218 023 7 150939191 150939360 - 32 96 42 A G 150939338 3167 23 CGTCCCTGTTCTGCCCCCATGGCCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242251 151242252 151242252 upstr_intron -20 -0.452381 CGTCCCTGTTCTGCCCCCATGGCCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 43 254 1 0.9918151 0.9959075 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04633195 0.138423 0.8625015 0.9035301 NA 0.09237746 NA FALSE NA 1 0.169 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA GAC A,G 8.236e-06 7:151242252 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 non_coding_transcript_exon_variant 0.764902 0.89959 0.38051 0 0.6967365 0.29244 0.2319184 FALSE NA ENSE00002357218_024 ENSE00002357218 024 7 150939191 150939360 - 32 96 42 G A 150939343 3168 18 CGTCCCTGTTCTGCCCCTATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 151242256 151242257 151242257 upstr_intron -25 -0.5714286 CGTCCCTGTTCTGCCCCTATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG mutant NA NA NA NA NA 94 881 1 0.9919721 0.9959861 0.8193889 0.9056141 0.953668 0.8533921 NA NA 0.04633195 0.13858 0.8625015 0.9035301 NA 0.09245598 NA FALSE NA 0.998 1.793 . upstream_gene_variant MODIFIER SMARCD3 HGNC 11108 ENST00000470588 1 NA TGG G,A 1.647e-05 7:151242257 SMARCD3 HGNC Symbol protein_coding 39132 ENSG00000082014 ENSE00003599198 non_coding_transcript_exon_variant 0.43474 0.91334 0.76558 0 0.6280615 0.29244 0.2319184 FALSE 1.62798e-05 ENSE00002357218_BRK ENSE00002357218 BRK 7 150939191 150939360 - 32 96 42 A,G; T,T NA NA NA CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACTTCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGCCAAGACCAAGAGCCCCTCCGCCCTTGAATTG 151242104 151242274 NA NA NA NA NA NA CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACTTCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGCCAAGACCAAGAGCCCCTCCGCCCTTGAATTG CGTCCCTGTTCTGCCCCCATGGTCCCTGTTGCTCTCCCACAGCCCAGCAAACAGAAGCGGAAGTTCTCTTCTTTCTTCAAGAGTTTGGTCATCGAGCTGGACAAAGATCTTTATGGCCCTGACAACCACCTCGTTGAGGTAAGACCAAGAGCCCCTCCGCCCTTGAATTG control 18 136 0 0 0 32 1835 0 0 0 0.8193889 0.9056141 0.953668 0.8533921 -0.8193889 -0.9056141 -0.953668 -0.8533921 0.8625015 0.9035301 -0.8625015 -0.9035301 0.04102861 TRUE TRUE NA NA NA NA NA SMARCD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMARCD3 NA NA NA ENSG00000082014 ENSE00003599198 NA NA NA NA NA NA NA 0.2319184 FALSE NA ENSE00002357571_000 ENSE00002357571 000 12 121758146 121758315 - 42 75 53 NA NA NA NA NA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 NA NA NA NA NA NA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA natural 10 51 0.9966049 0.9887747 0.9926898 4077 2941 0.8645381 0.9680689 0.9163035 0.9966049 0.9887747 0.8645381 0.9680689 0 0 0 0 0.9926898 0.9163035 0 0 0 FALSE FALSE NA NA NA NA NA ANAPC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANAPC5 NA NA NA ENSG00000089053 ENSE00003629245 NA NA NA NA NA NA NA 4.180015e-05 FALSE NA ENSE00002357571_002 ENSE00002357571 002 12 121758146 121758315 - 42 75 53 A G 121758170 3693 146 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCACGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320366 121320367 121320367 downstr_intron 18 1.439024 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCACGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 742 359 0.9597173 0.9950824 0.9773999 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.0951792 0.02701352 0.9926898 0.9163035 NA 0.06109636 NA FALSE NA 0.004 1.967 . intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 12/16 1 NA CAT A,G 2.471e-05 12:121320367 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 intron_variant 0.035178 0.20829 0.13031 0.322412 0.5303194 0.0862078 4.180015e-05 FALSE 2.03275e-05 ENSE00002357571_003 ENSE00002357571 003 12 121758146 121758315 - 42 75 53 T C 121758171 3694 145 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCGTGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320367 121320368 121320368 downstr_intron 17 1.414634 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCGTGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant 108 248 0.844908 0.85 0.847454 1323 719 0.8713063 0.8592335 0.8652699 0.9966049 0.9887747 0.8645381 0.9680689 -0.1516969 -0.1387747 0.006768218 -0.1088354 0.9926898 0.9163035 -0.1452358 -0.05103359 0.0942022 FALSE FALSE 0 -3.529 . intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 12/16 1 NA ATG T,C 2.471e-05 12:121320368 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 intron_variant -0.264061 0.07618 0.0073 0.322412 0.4874555 0.134061 4.180015e-05 FALSE 2.84546e-05 ENSE00002357571_006 ENSE00002357571 006 12 121758146 121758315 - 42 75 53 C T 121758193 3697 123 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACACCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320389 121320390 121320390 exon -6 0.9333333 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACACCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 351 93 0.9988216 0.9927258 0.9957737 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1342835 0.02465688 0.9926898 0.9163035 NA 0.0794702 NA FALSE NA 1 2.409 . missense_variant MODERATE ANAPC5 HGNC 15713 ENST00000541887 12/17 1 deleterious(0) possibly_damaging(0.793) NA GCG C,T 2.471e-05 12:121320390 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 missense_variant 3.108174 0.98659 0.97261 0.732398 0.9966657 0 4.180015e-05 FALSE 1.62471e-05 ENSE00002357571_007 ENSE00002357571 007 12 121758146 121758315 - 42 75 53 G A 121758194 3698 122 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCATGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320390 121320391 121320391 exon -7 0.92 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCATGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant 91 211 0.870599 0.883171 0.876885 329 715 0.8825873 0.9847976 0.9336925 0.9966049 0.9887747 0.8645381 0.9680689 -0.1260059 -0.1056037 0.01804925 0.01672867 0.9926898 0.9163035 -0.1158048 0.01738896 0.1331938 FALSE FALSE 0.994 0.374 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121320391 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 synonymous_variant 0.128004 0.91775 0.11209 0.732398 0.454348 0 4.180015e-05 FALSE 4.4678e-05 ENSE00002357571_008 ENSE00002357571 008 12 121758146 121758315 - 42 75 53 G C 121758194 3699 122 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCAGGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320390 121320391 121320391 exon -7 0.92 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCAGGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 1108 579 0.747203 0.9310384 0.8391207 0.9966049 0.9887747 0.8645381 0.9680689 NA NA -0.1173351 -0.03703052 0.9926898 0.9163035 NA -0.0771828 NA FALSE NA 0.994 0.374 NA NA NA ANAPC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANAPC5 NA NA NA ENSG00000089053 ENSE00003629245 missense_variant 0.249342 0.93333 0.87918 0.732398 0.7073598 0 4.180015e-05 FALSE 4.06164e-06 ENSE00002357571_009 ENSE00002357571 009 12 121758146 121758315 - 42 75 53 A T 121758206 3700 110 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCAAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320402 121320403 121320403 exon -19 0.76 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCAAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 363 3226 1 0.9704382 0.9852191 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1354619 0.002369322 0.9926898 0.9163035 NA 0.06891562 NA FALSE NA 0.999 0.472 rs61757696 synonymous_variant LOW ANAPC5 HGNC 15713 ENST00000541887 12/17 rs61757696 1 T:0.0132 T:0.0477 T:0.0029 NA T:0 T:0.001 T:0 T:0.0424 T:0.0001 TAG A,T 0.003953 12:121320403 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 synonymous_variant -0.29753 0.93588 0.83346 0.732398 0.6016434 0 4.180015e-05 FALSE 0.00308246 ENSE00002357571_010 ENSE00002357571 010 12 121758146 121758315 - 42 75 53 C T 121758209 3701 107 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCACCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320405 121320406 121320406 exon -22 0.72 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCACCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant 22 11 0.85 0.85 0.85 309 573 0.9908647 0.9512211 0.9710429 0.9966049 0.9887747 0.8645381 0.9680689 -0.1466049 -0.1387747 0.1263267 -0.01684778 0.9926898 0.9163035 -0.1426898 0.05473944 0.1974292 FALSE FALSE 0.97 0.155 . synonymous_variant LOW ANAPC5 HGNC 15713 ENST00000541887 12/17 1 NA GCG C,T 1.647e-05 12:121320406 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 synonymous_variant 2.264065 0.93476 0.31485 0.732398 0.6238922 0 4.180015e-05 FALSE 2.03064e-05 ENSE00002357571_011 ENSE00002357571 011 12 121758146 121758315 - 42 75 53 G A 121758210 3702 106 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCTGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320406 121320407 121320407 exon -23 0.7066667 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCTGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 57 1246 0.998547 0.9886112 0.9935791 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1340089 0.02054231 0.9926898 0.9163035 NA 0.07727562 NA FALSE NA 1 7.431 rs139334549 missense_variant MODERATE ANAPC5 HGNC 15713 ENST00000541887 12/17 rs139334549 1 deleterious(0) probably_damaging(0.95) A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 A:0.0002 A:0 CGG G,A 0.0002224 12:121320407 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 missense_variant 7.144716 0.99194 0.99457 0.732398 0.9985121 0 4.180015e-05 FALSE 0.000199001 ENSE00002357571_012 ENSE00002357571 012 12 121758146 121758315 - 42 75 53 C T 121758216 3703 100 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACAATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320412 121320413 121320413 exon -29 0.6266667 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACAATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant 72 67 0.85 0.85 0.85 401 473 0.9308892 0.8586431 0.8947662 0.9966049 0.9887747 0.8645381 0.9680689 -0.1466049 -0.1387747 0.06635112 -0.1094258 0.9926898 0.9163035 -0.1426898 -0.02153732 0.1211525 FALSE FALSE 1 4.202 . missense_variant MODERATE ANAPC5 HGNC 15713 ENST00000541887 12/17 rs563972227 1 tolerated(0.22) possibly_damaging(0.493) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 8.236e-06 12:121320413 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 missense_variant 4.408776 0.98492 0.93055 0.732398 0.99817 0 4.180015e-05 FALSE 4.06114e-06 ENSE00002357571_013 ENSE00002357571 013 12 121758146 121758315 - 42 75 53 T C 121758233 3704 83 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTGAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320429 121320430 121320430 exon 30 0.4 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTGAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 478 66 0.9960601 0.9970068 0.9965335 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.131522 0.02893792 0.9926898 0.9163035 NA 0.08022998 NA FALSE NA 0.897 -0.147 . synonymous_variant LOW ANAPC5 HGNC 15713 ENST00000541887 12/17 1 NA TTA T,C 3.295e-05 12:121320430 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 synonymous_variant 0.84984 0.95817 0.42696 0.732398 0.7387452 0 4.180015e-05 FALSE 6.09211e-05 ENSE00002357571_014 ENSE00002357571 014 12 121758146 121758315 - 42 75 53 A G 121758244 3705 72 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTCCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320440 121320441 121320441 exon 19 0.2533333 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTCCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant 70 203 0.85 0.85 0.85 678 1076 0.8218923 0.8195552 0.8207238 0.9966049 0.9887747 0.8645381 0.9680689 -0.1466049 -0.1387747 -0.04264574 -0.1485137 0.9926898 0.9163035 -0.1426898 -0.09557973 0.04711007 FALSE FALSE 0.998 0.993 . missense_variant MODERATE ANAPC5 HGNC 15713 ENST00000541887 12/17 1 deleterious(0.04) benign(0.014) NA GAA A,G 8.236e-06 12:121320441 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 missense_variant 3.754803 0.9709 0.94779 0.732398 0.9646343 0 4.180015e-05 FALSE 4.06147e-06 ENSE00002357571_015 ENSE00002357571 015 12 121758146 121758315 - 42 75 53 T C 121758248 3706 68 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCGGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320444 121320445 121320445 exon 15 0.2 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCGGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 895 1329 0.9723819 0.9987591 0.9855705 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1078438 0.03069017 0.9926898 0.9163035 NA 0.06926698 NA FALSE NA 0.219 -0.654 . synonymous_variant LOW ANAPC5 HGNC 15713 ENST00000541887 12/17 1 NA CTG T,C 8.236e-06 12:121320445 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 synonymous_variant 0.841786 0.96513 0.39803 0.732398 0.5742836 0 4.180015e-05 FALSE 4.06171e-06 ENSE00002357571_016 ENSE00002357571 016 12 121758146 121758315 - 42 75 53 A C 121758265 3707 51 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTGAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320461 121320462 121320462 upstr_intron -3 -0.03773585 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTGAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 672 375 0.00909158 0.01043075 0.009761166 0.9966049 0.9887747 0.8645381 0.9680689 NA NA -0.8554465 -0.9576382 0.9926898 0.9163035 NA -0.9065423 NA TRUE NA 0.009 -0.137 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121320462 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 splice_region_variant -0.173746 0.27592 0.20727 0.156188 0.562757 0.103388 4.180015e-05 FALSE 8.12585e-06 ENSE00002357571_017 ENSE00002357571 017 12 121758146 121758315 - 42 75 53 A G 121758265 3708 51 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTCAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320461 121320462 121320462 upstr_intron -3 -0.03773585 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTCAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 1078 282 0.02173264 0.01158344 0.01665804 0.9966049 0.9887747 0.8645381 0.9680689 NA NA -0.8428054 -0.9564855 0.9926898 0.9163035 NA -0.8996455 NA TRUE NA 0.009 -0.137 NA NA NA ANAPC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANAPC5 NA NA NA ENSG00000089053 ENSE00003629245 splice_region_variant 0.116418 0.2188 0.01589 0.156188 0.5852801 0.103388 4.180015e-05 FALSE 4.06293e-06 ENSE00002357571_018 ENSE00002357571 018 12 121758146 121758315 - 42 75 53 A C 121758270 3709 46 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCGACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320466 121320467 121320467 upstr_intron -8 -0.1320755 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCGACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant 36 52 0.9018805 0.85 0.8759402 987 78 0.6893509 0.7748198 0.7320853 0.9966049 0.9887747 0.8645381 0.9680689 -0.09472443 -0.1387747 -0.1751872 -0.1932491 0.9926898 0.9163035 -0.1167496 -0.1842181 0.06746858 FALSE FALSE 0 0.309 . splice_region_variant&intron_variant LOW ANAPC5 HGNC 15713 ENST00000541887 11/16 1 NA TAG A,C 1.647e-05 12:121320467 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 splice_region_variant -0.141721 0.25343 0.13375 0.115753 0.5841397 0.089727 4.180015e-05 FALSE 8.12982e-06 ENSE00002357571_019 ENSE00002357571 019 12 121758146 121758315 - 42 75 53 A G 121758274 3710 42 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGCTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320470 121320471 121320471 upstr_intron -12 -0.2075472 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGCTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 1191 628 0.8222288 0.8087789 0.8155039 0.9966049 0.9887747 0.8645381 0.9680689 NA NA -0.04230926 -0.15929 0.9926898 0.9163035 NA -0.1007996 NA FALSE NA 0.036 0.426 . intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 11/16 1 NA AAC A,G 8.236e-06 12:121320471 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 non_coding_transcript_exon_variant 0.122025 0.27993 0.05381 0.115753 0.5416593 0.0845833 4.180015e-05 FALSE 1.21939e-05 ENSE00002357571_020 ENSE00002357571 020 12 121758146 121758315 - 42 75 53 C G 121758275 3711 41 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTCTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320471 121320472 121320472 upstr_intron -13 -0.2264151 AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTCTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 778 166 0.993741 1 0.9968705 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1292029 0.03193109 0.9926898 0.9163035 NA 0.080567 NA FALSE NA 0 -0.047 rs146296663 intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 11/16 rs146296663 1 G:0.0012 G:0 G:0 NA G:0.006 G:0 G:0 ACA C,G 0.0003047 12:121320472 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 non_coding_transcript_exon_variant -0.265995 0.16461 0.00863 0.115753 0.4365903 0.0476178 4.180015e-05 FALSE 0.000357747 ENSE00002357571_021 ENSE00002357571 021 12 121758146 121758315 - 42 75 53 T C 121758282 3712 34 AGGTGTGGATTCAACACAGGTTATGCTGATCAAGTTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320478 121320479 121320479 upstr_intron -20 -0.3584906 AGGTGTGGATTCAACACAGGTTATGCTGATCAAGTTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 418 1448 0.9930024 0.9747002 0.9838513 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1284643 0.006631304 0.9926898 0.9163035 NA 0.0675478 NA FALSE NA 0 -0.432 rs138182382 intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 11/16 rs138182382 1 C:0.0038 C:0.0144 C:0 NA C:0 C:0 C:0 C:0.0238 C:0.0006 ATT T,C 0.002627 12:121320479 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 non_coding_transcript_exon_variant -0.086321 0.22952 0.07718 0.115753 0.5490916 0.0476178 4.180015e-05 FALSE 0.00233827 ENSE00002357571_022 ENSE00002357571 022 12 121758146 121758315 - 42 75 53 A C 121758286 3713 30 AGGTGTGGATTCAACACAGGTTATGCTGAGCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320482 121320483 121320483 upstr_intron -24 -0.4339623 AGGTGTGGATTCAACACAGGTTATGCTGAGCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 549 107 0 0.003004697 0.001502348 0.9966049 0.9887747 0.8645381 0.9680689 NA NA -0.8645381 -0.9650642 0.9926898 0.9163035 NA -0.9148011 NA TRUE NA 0.049 1.165 . intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 11/16 1 NA GAT A,C 8.236e-06 12:121320483 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 non_coding_transcript_exon_variant -0.021956 0.27121 0.15504 0.088506 0.5023855 0.0476178 4.180015e-05 FALSE 8.13531e-06 ENSE00002357571_024 ENSE00002357571 024 12 121758146 121758315 - 42 75 53 T C 121758293 3715 23 AGGTGTGGATTCAACACAGGTTGTGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320489 121320490 121320490 upstr_intron -31 -0.5660377 AGGTGTGGATTCAACACAGGTTGTGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 39 162 1 0.956293 0.9781465 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1354619 -0.01177591 0.9926898 0.9163035 NA 0.06184301 NA FALSE NA 0 -0.507 . intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 11/16 1 NA ATA T,C 8.237e-06 12:121320490 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 non_coding_transcript_exon_variant -0.036705 0.18319 0.00769 0.088506 0.5644628 0.0476178 4.180015e-05 FALSE 8.1479e-06 ENSE00002357571_025 ENSE00002357571 025 12 121758146 121758315 - 42 75 53 C G 121758297 3716 19 AGGTGTGGATTCAACACACGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320493 121320494 121320494 upstr_intron -35 -0.6415094 AGGTGTGGATTCAACACACGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 769 127 0.9770613 0.9698375 0.9734494 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1125233 0.001768545 0.9926898 0.9163035 NA 0.05714591 NA FALSE NA 0.003 1.684 . intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 11/16 1 NA CCT C,G 8.237e-06 12:121320494 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 non_coding_transcript_exon_variant 0.160866 0.2984 0.08755 0.088506 0.5364489 0.0476178 4.180015e-05 FALSE 8.15914e-06 ENSE00002357571_026 ENSE00002357571 026 12 121758146 121758315 - 42 75 53 T G 121758300 3717 16 AGGTGTGGATTCAACCCAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320496 121320497 121320497 upstr_intron -38 -0.6981132 AGGTGTGGATTCAACCCAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant NA NA NA NA NA 268 140 0.9962553 0.9812172 0.9887363 0.9966049 0.9887747 0.8645381 0.9680689 NA NA 0.1317172 0.01314831 0.9926898 0.9163035 NA 0.07243277 NA FALSE NA 0 -0.183 . intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 11/16 1 NA GTG T,G 8.237e-06 12:121320497 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 non_coding_transcript_exon_variant 0.249116 0.2264 0.03653 0.088506 0.5086718 0.0476178 4.180015e-05 FALSE 4.0846e-06 ENSE00002357571_027 ENSE00002357571 027 12 121758146 121758315 - 42 75 53 T C 121758302 3718 14 AGGTGTGGATTCAGCACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 121320498 121320499 121320499 upstr_intron -40 -0.7358491 AGGTGTGGATTCAGCACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA mutant 16 72 0.85 0.85 0.85 125 276 0.8436001 0.9932445 0.9184223 0.9966049 0.9887747 0.8645381 0.9680689 -0.1466049 -0.1387747 -0.02093802 0.02517564 0.9926898 0.9163035 -0.1426898 0.002118808 0.1448086 FALSE FALSE 0 0.071 . intron_variant MODIFIER ANAPC5 HGNC 15713 ENST00000541887 11/16 1 NA GTT T,C 8.237e-06 12:121320499 ANAPC5 HGNC Symbol protein_coding 91651 ENSG00000089053 ENSE00003629245 non_coding_transcript_exon_variant -0.067256 0.07785 0.0016 0.088506 0.4376518 0.0476178 4.180015e-05 FALSE 2.45274e-05 ENSE00002357571_BRK ENSE00002357571 BRK 12 121758146 121758315 - 42 75 53 A,G; T,T NA NA NA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTTTGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGCCAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA 121320342 121320512 NA NA NA NA NA NA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTTTGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGCCAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA AGGTGTGGATTCAACACAGGTTATGCTGATCAAATTGTGTGTTTCTACTTTAGGGCTGTTTTGCTGCAGCTTCTGAAGTGTTAAAGCACTTGAAGGAACGATTTCCGCCTAATAGTCAGCACGCCCAGGTAATCTGCCTTTTGCATGGCAATAGATTTATTTCTGATAAA control NA NA NA NA NA 900 162 0 0.001980789 0.0009903945 0.9966049 0.9887747 0.8645381 0.9680689 NA NA -0.8645381 -0.9660881 0.9926898 0.9163035 NA -0.9153131 NA TRUE NA NA NA NA NA NA ANAPC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANAPC5 NA NA NA ENSG00000089053 ENSE00003629245 NA NA NA NA NA NA NA 4.180015e-05 FALSE NA ENSE00002358091_000 ENSE00002358091 000 17 27417512 27417681 - 38 84 48 NA NA NA NA NA GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 NA NA NA NA NA NA GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC natural 295 302 0.9916929 0.995835 0.9937639 2835 4371 0.9903023 0.9917232 0.9910127 0.9916929 0.995835 0.9903023 0.9917232 0 0 0 0 0.9937639 0.9910127 0 0 0 FALSE FALSE NA NA NA NA NA TIAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO18A NA NA NA ENSG00000196535 ENSE00003492643 NA NA NA NA NA NA NA 0.9994175 TRUE NA ENSE00002358091_001 ENSE00002358091 001 17 27417512 27417681 - 38 84 48 G A 27417535 1164 147 GGCACTCTCTCTCTCCTGAGGGAACCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090516 29090517 29090517 downstr_intron 15 1.405405 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGTTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 29 14 1 1 1 483 1134 1 0.9576486 0.9788243 0.9916929 0.995835 0.9903023 0.9917232 0.008307149 0.00416505 0.009697712 -0.03407459 0.9937639 0.9910127 0.006236099 -0.01218844 0.01842454 FALSE FALSE 0 0.198 . intron_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/7 1 NA AGC G,A 8.315e-06 17:29090517 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 intron_variant 0.680241 0.20859 0.06114 0.156188 0.5692287 0.0617334 0.9994175 TRUE NA ENSE00002358091_002 ENSE00002358091 002 17 27417512 27417681 - 38 84 48 C T 27417538 1165 144 GGCACTCTCTCTCTCCTGAGGGAGCCTCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090519 29090520 29090520 downstr_intron 12 1.324324 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGAGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 22 22 1 1 1 437 907 0.9999058 0.9997899 0.9998479 0.9916929 0.995835 0.9903023 0.9917232 0.008307149 0.00416505 0.009603501 0.008066759 0.9937639 0.9910127 0.006236099 0.00883513 0.002599031 FALSE FALSE 0 -0.486 . intron_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/7 rs370437320 1 NA T:0 T:0.0001 CCC C,T 8.309e-06 17:29090520 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 intron_variant 0.648559 0.1846 0.0348 0.156188 0.5876322 0.0617334 0.9994175 TRUE NA ENSE00002358091_003 ENSE00002358091 003 17 27417512 27417681 - 38 84 48 C T 27417549 1166 133 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCATCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090530 29090531 29090531 downstr_intron 1 1.027027 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGATGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 43 53 0.9973934 1 0.9986967 NA NA NA NA NA 0.9916929 0.995835 0.9903023 0.9917232 0.005700561 0.00416505 NA NA 0.9937639 0.9910127 0.004932805 NA NA NA FALSE 1 6.819 . splice_donor_variant HIGH TIAF1 HGNC 11803 ENST00000408971 3/7 1 NA HC ACC C,T 8.292e-06 17:29090531 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 splice_donor_variant 5.879308 0.99455 0.99742 0.295142 0.9942449 0.987866 0.9994175 TRUE NA ENSE00002358091_004 ENSE00002358091 004 17 27417512 27417681 - 38 84 48 C T 27417568 1167 114 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGTTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090549 29090550 29090550 exon -19 0.7857143 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAACAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 11 71 1 1 1 297 1287 1 0.9990156 0.9995078 0.9916929 0.995835 0.9903023 0.9917232 0.008307149 0.00416505 0.009697712 0.007292478 0.9937639 0.9910127 0.006236099 0.008495095 0.002258995 FALSE FALSE 1 1.15 . 5_prime_UTR_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/8 1 NA GCT C,T 1.656e-05 17:29090550 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 synonymous_variant 2.030132 0.98218 0.95918 0.706548 0.8841135 0 0.9994175 TRUE NA ENSE00002358091_005 ENSE00002358091 005 17 27417512 27417681 - 38 84 48 G A 27417596 1168 86 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAACTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090577 29090578 29090578 exon 38 0.452381 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGTTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 20 22 1 1 1 1193 1622 0.9986233 0.9963274 0.9974754 0.9916929 0.995835 0.9903023 0.9917232 0.008307149 0.00416505 0.008320978 0.004604273 0.9937639 0.9910127 0.006236099 0.006462625 0.0002265258 FALSE FALSE 0.962 3.935 . 5_prime_UTR_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/8 1 NA AGC G,A 1.655e-05 17:29090578 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 missense_variant 2.753725 0.98097 0.96864 0.706548 0.9684045 0 0.9994175 TRUE 8.84557e-06 ENSE00002358091_006 ENSE00002358091 006 17 27417512 27417681 - 38 84 48 C T 27417597 1169 85 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGTTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090578 29090579 29090579 exon 37 0.4404762 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAACTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 22 48 1 0.9998925 0.9999463 273 177 0.9992438 0.9930437 0.9961438 0.9916929 0.995835 0.9903023 0.9917232 0.008307149 0.004057562 0.008941539 0.00132052 0.9937639 0.9910127 0.006182356 0.005131029 0.001051326 FALSE FALSE 0.295 0.588 . 5_prime_UTR_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/8 1 NA GCT C,T 9.105e-05 17:29090579 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 missense_variant 3.368591 0.98727 0.71217 0.706548 0.9478996 0 0.9994175 TRUE 0.000110584 ENSE00002358091_007 ENSE00002358091 007 17 27417512 27417681 - 38 84 48 T C 27417605 1170 77 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGACCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090586 29090587 29090587 exon 29 0.3452381 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGGTCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 39 27 0.9887142 0.997084 0.9928991 542 1174 0.8354073 0.9983214 0.9168643 0.9916929 0.995835 0.9903023 0.9917232 -0.002978676 0.001249019 -0.154895 0.006598224 0.9937639 0.9910127 -0.0008648285 -0.07414839 0.07328356 FALSE FALSE 1 7.182 . 5_prime_UTR_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/8 1 NA ATC T,C 7.451e-05 17:29090587 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 missense_variant 4.952019 0.99343 0.99589 0.706548 0.9985674 0 0.9994175 TRUE 9.76641e-05 ENSE00002358091_008 ENSE00002358091 008 17 27417512 27417681 - 38 84 48 T G 27417609 1171 73 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATGTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090590 29090591 29090591 exon 25 0.297619 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATACATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant NA NA NA NA NA 738 465 0.9900935 0.9977499 0.9939217 0.9916929 0.995835 0.9903023 0.9917232 NA NA -0.0002088295 0.006026749 0.9937639 0.9910127 NA 0.00290896 NA FALSE NA 1 4.404 . 5_prime_UTR_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/8 1 NA TTT T,G 1.656e-05 17:29090591 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 missense_variant 2.755329 0.9937 0.98737 0.706548 0.9771836 0 0.9994175 TRUE 1.33558e-05 ENSE00002358091_009 ENSE00002358091 009 17 27417512 27417681 - 38 84 48 A T 27417616 1172 66 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGTGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090597 29090598 29090598 exon 18 0.2142857 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCACAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 19 30 1 1 1 426 229 1 1 1 0.9916929 0.995835 0.9903023 0.9917232 0.008307149 0.00416505 0.009697712 0.008276829 0.9937639 0.9910127 0.006236099 0.00898727 0.002751171 FALSE FALSE 0 -2.187 . 5_prime_UTR_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/8 1 NA GAG A,T 1.656e-05 17:29090598 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 synonymous_variant 0.605408 0.96116 0.201 0.706548 0.8560819 0 0.9994175 TRUE 4.47952e-06 ENSE00002358091_010 ENSE00002358091 010 17 27417512 27417681 - 38 84 48 C G 27417624 1173 58 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTGCCGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090605 29090606 29090606 exon 10 0.1190476 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGCACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 24 52 1 0.9986558 0.9993279 653 443 0.9974784 0.9982526 0.9978655 0.9916929 0.995835 0.9903023 0.9917232 0.008307149 0.002820842 0.007176102 0.006529421 0.9937639 0.9910127 0.005563995 0.006852762 0.001288766 FALSE FALSE 0.868 2.428 . 5_prime_UTR_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/8 1 NA TCC C,G 8.281e-06 17:29090606 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 missense_variant 6.358823 0.98324 0.98353 0.706548 0.9952695 0 0.9994175 TRUE 1.36247e-05 ENSE00002358091_011 ENSE00002358091 011 17 27417512 27417681 - 38 84 48 C T 27417626 1174 56 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCTGGGAAGCCTGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090607 29090608 29090608 exon 8 0.0952381 GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCAGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant NA NA NA NA NA 219 224 1 0.9985853 0.9992926 0.9916929 0.995835 0.9903023 0.9917232 NA NA 0.009697712 0.006862119 0.9937639 0.9910127 NA 0.008279915 NA FALSE NA 0.294 1.448 . 5_prime_UTR_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 3/8 1 NA CCG C,T 1.656e-05 17:29090608 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 missense_variant 3.941182 0.98329 0.93327 0.706548 0.9793309 0 0.9994175 TRUE NA ENSE00002358091_013 ENSE00002358091 013 17 27417512 27417681 - 38 84 48 G A 27417649 1176 33 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAAAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090630 29090631 29090631 upstr_intron -16 -0.3125 GAATGCTTATGGGGGATCCTGCTTCTGATGCTTTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant 10 15 1 0.9714646 0.9857323 NA NA NA NA NA 0.9916929 0.995835 0.9903023 0.9917232 0.008307149 -0.02437038 NA NA 0.9937639 0.9910127 -0.008031614 NA NA NA FALSE 0 -0.133 . intron_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 2/7 1 NA AGA G,A 8.288e-06 17:29090631 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 intron_variant -0.051575 0.20791 0.04599 0.062308 0.4749645 0.151547 0.9994175 TRUE NA ENSE00002358091_014 ENSE00002358091 014 17 27417512 27417681 - 38 84 48 A T 27417650 1177 32 GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCACCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCCTGGGAAAGGAATGAGTGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 29090631 29090632 29090632 upstr_intron -17 -0.3333333 GAATGCTTATGGGGGATCCTGCTTCTGATGCACTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC mutant NA NA NA NA NA 209 413 1 0.997852 0.998926 0.9916929 0.995835 0.9903023 0.9917232 NA NA 0.009697712 0.006128879 0.9937639 0.9910127 NA 0.007913295 NA FALSE NA 0 -1.728 rs191048954 intron_variant MODIFIER TIAF1 HGNC 11803 ENST00000408971 2/7 rs191048954 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GAG A,T 8.292e-06 17:29090632 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003492643 intron_variant -0.139949 0.14439 0.01526 0.062308 0.5539779 0.151547 0.9994175 TRUE 4.76145e-06 ENSE00002358091_BRK ENSE00002358091 BRK 17 27417512 27417681 - 38 84 48 A,G; T,T NA NA NA GGCACTCTCTCTCTCCTGAGGGAGCCCCTGGTCCTCGGCTTCTCCTGCAGCTCCTGCTTCTCTTTGTTGGCTTCTTCTAGCTGAGCTTGGAGATCATTTATCTGAGCCAGGTCCCGGGAAGCAAGGGAAAGGAATGAGAGCATCAGAAGCAGGATCCCCCATAAGCATTC 29090493 29090663 NA NA NA NA NA NA GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCTTGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGCCGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC GAATGCTTATGGGGGATCCTGCTTCTGATGCTCTCATTCCTTTCCCAGGCTTCCCGGGACCTGGCTCAGATAAATGATCTCCAAGCTCAGCTAGAAGAAGCCAACAAAGAGAAGCAGGAGCTGCAGGAGAAGGTGAGGACCAGGGGCTCCCTCAGGAGAGAGAGAGTGCC control 191 379 0.85 0.85 0.85 NA NA NA NA NA 0.9916929 0.995835 0.9903023 0.9917232 -0.1416929 -0.145835 NA NA 0.9937639 0.9910127 -0.1437639 NA NA NA FALSE NA NA NA NA NA TIAF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO18A NA NA NA ENSG00000196535 ENSE00003492643 NA NA NA NA NA NA NA 0.9994175 TRUE NA ENSE00002358672_000 ENSE00002358672 000 12 120204859 120205028 - 32 96 42 NA NA NA NA NA CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 NA NA NA NA NA NA CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG natural 114 120 0.9403788 0.9854037 0.9628912 3865 3433 0.9028879 0.7738421 0.838365 0.9403788 0.9854037 0.9028879 0.7738421 0 0 0 0 0.9628912 0.838365 0 0 0 FALSE FALSE NA NA NA NA NA CIT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CIT NA NA NA ENSG00000122966 ENSE00003644069 NA NA NA NA NA NA NA 0.9999987 TRUE NA ENSE00002358672_001 ENSE00002358672 001 12 120204859 120205028 - 32 96 42 A C 120204871 3424 158 CAAGGCCAGGGACGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767066 119767067 119767067 downstr_intron 20 1.645161 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCGTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant 70 81 0.9309991 0.8618873 0.8964432 771 414 0.9320565 0.9873055 0.959681 0.9403788 0.9854037 0.9028879 0.7738421 -0.009379658 -0.1235163 0.02916859 0.2134634 0.9628912 0.838365 -0.066448 0.121316 0.187764 FALSE FALSE 0 0.134 . intron_variant MODIFIER CIT HGNC 1985 ENST00000392520 9/37 1 NA AAG A,C 8.237e-06 12:119767067 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 intron_variant -0.128446 0.58664 0.07783 0.099367 0.5597044 0.152421 0.9999987 TRUE NA ENSE00002358672_003 ENSE00002358672 003 12 120204859 120205028 - 32 96 42 A G 120204880 3426 149 CAAGGCCAGGGAAGATCAGAAGATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767075 119767076 119767076 downstr_intron 11 1.354839 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATCTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 89 450 0.9859301 0.9749899 0.98046 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.08304222 0.2011478 0.9628912 0.838365 NA 0.142095 NA FALSE NA 0.984 0.967 . intron_variant MODIFIER CIT HGNC 1985 ENST00000392520 9/37 1 NA AAA A,G 8.236e-06 12:119767076 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 intron_variant 0.032456 0.37519 0.15905 0.099367 0.6386502 0.152421 0.9999987 TRUE 4.14539e-06 ENSE00002358672_005 ENSE00002358672 005 12 120204859 120205028 - 32 96 42 T C 120204899 3428 130 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTCTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767094 119767095 119767095 exon -9 0.9166667 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAGAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 496 440 1 0.9867547 0.9933773 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.09711208 0.2129126 0.9628912 0.838365 NA 0.1550123 NA FALSE NA 1 7.047 . missense_variant MODERATE CIT HGNC 1985 ENST00000392520 9/38 1 tolerated(0.08) benign(0.107) NA TTT T,C 8.236e-06 12:119767095 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 missense_variant 3.008223 0.99463 0.99602 0.706548 0.9979769 0 0.9999987 TRUE 4.11286e-06 ENSE00002358672_006 ENSE00002358672 006 12 120204859 120205028 - 32 96 42 C T 120204912 3429 117 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGTTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767107 119767108 119767108 exon -22 0.78125 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAACACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant 15 28 0.9975172 1 0.9987586 417 138 1 1 1 0.9403788 0.9854037 0.9028879 0.7738421 0.05713846 0.01459635 0.09711208 0.2261579 0.9628912 0.838365 0.0358674 0.161635 0.1257676 FALSE FALSE 1 2.036 . synonymous_variant LOW CIT HGNC 1985 ENST00000392520 9/38 1 NA GCT C,T 6.589e-05 12:119767108 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 synonymous_variant 0.21042 0.97657 0.86646 0.706548 0.3770988 0 0.9999987 TRUE 5.73959e-05 ENSE00002358672_007 ENSE00002358672 007 12 120204859 120205028 - 32 96 42 G A 120204930 3430 99 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGATGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767125 119767126 119767126 exon -40 0.59375 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCATCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 72 45 1 0.8914856 0.9457428 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.09711208 0.1176435 0.9628912 0.838365 NA 0.1073778 NA FALSE NA 1 1.167 . synonymous_variant LOW CIT HGNC 1985 ENST00000392520 9/38 1 NA GGT G,A 2.471e-05 12:119767126 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 synonymous_variant 0.375945 0.97848 0.86828 0.706548 0.3929069 0 0.9999987 TRUE 1.64187e-05 ENSE00002358672_008 ENSE00002358672 008 12 120204859 120205028 - 32 96 42 T C 120204931 3431 98 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGCGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767126 119767127 119767127 exon -41 0.5833333 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCGCCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 358 195 0.9966179 0.9832067 0.9899123 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.09372996 0.2093646 0.9628912 0.838365 NA 0.1515473 NA FALSE NA 1 7.047 . missense_variant MODERATE CIT HGNC 1985 ENST00000392520 9/38 1 tolerated(0.12) benign(0.033) NA GTG T,C 8.236e-06 12:119767127 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 missense_variant 0.843392 0.99585 0.99682 0.706548 0.8927026 0 0.9999987 TRUE 4.10246e-06 ENSE00002358672_009 ENSE00002358672 009 12 120204859 120205028 - 32 96 42 T C 120204939 3432 90 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCCAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767134 119767135 119767135 exon 48 0.5 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTGGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 610 205 0.9995268 0.9858536 0.9926902 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.09663887 0.2120115 0.9628912 0.838365 NA 0.1543252 NA FALSE NA 0.109 -0.692 rs137968481 synonymous_variant LOW CIT HGNC 1985 ENST00000392520 9/38 rs137968481 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0027 C:0 CTA T,C 0.0002553 12:119767135 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 synonymous_variant 0.250838 0.96584 0.0373 0.706548 0.726278 0 0.9999987 TRUE 0.000184426 ENSE00002358672_010 ENSE00002358672 010 12 120204859 120205028 - 32 96 42 T C 120204951 3433 78 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCCGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767146 119767147 119767147 exon 36 0.375 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCGGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 25 1351 0.9214969 0.994738 0.9581174 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.01860896 0.2208959 0.9628912 0.838365 NA 0.1197524 NA FALSE NA 1 0.444 . synonymous_variant LOW CIT HGNC 1985 ENST00000392520 9/38 1 NA CTG T,C 3.295e-05 12:119767147 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 synonymous_variant 0.408895 0.97384 0.89905 0.706548 0.6862758 0 0.9999987 TRUE 2.47143e-05 ENSE00002358672_011 ENSE00002358672 011 12 120204859 120205028 - 32 96 42 C T 120204975 3434 54 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTTTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767170 119767171 119767171 exon 12 0.125 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAAAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 179 110 0.9974432 1 0.9987216 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.09455531 0.2261579 0.9628912 0.838365 NA 0.1603566 NA FALSE NA 0.998 0.492 NA NA NA CIT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:119767171 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 synonymous_variant 1.294162 0.97808 0.86033 0.706548 0.4654033 0 0.9999987 TRUE 8.21733e-06 ENSE00002358672_013 ENSE00002358672 013 12 120204859 120205028 - 32 96 42 C T 120204980 3436 49 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTTGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767175 119767176 119767176 exon 7 0.07291667 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCAAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 501 2037 0.9913863 0.9941564 0.9927714 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.0884984 0.2203143 0.9628912 0.838365 NA 0.1544064 NA FALSE NA 1 6.855 . missense_variant MODERATE CIT HGNC 1985 ENST00000392520 9/38 COSM935811&COSM935810&COSM1586256 1 tolerated(0.26) probably_damaging(0.98) NA TCG C,T 8.236e-06 12:119767176 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 missense_variant 5.6549 0.99687 0.9968 0.706548 0.9991254 0 0.9999987 TRUE 8.22957e-06 ENSE00002358672_014 ENSE00002358672 014 12 120204859 120205028 - 32 96 42 G A 120204981 3437 48 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCAAGCTCCTAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767176 119767177 119767177 exon 6 0.0625 CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTTGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 1058 376 0.9992359 0.9957703 0.9975031 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.09634803 0.2219282 0.9628912 0.838365 NA 0.1591381 NA FALSE NA 1 0.785 . synonymous_variant LOW CIT HGNC 1985 ENST00000392520 9/38 1 NA CGA G,A 1.647e-05 12:119767177 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 synonymous_variant 0.2501 0.98243 0.77304 0.706548 0.4553022 0 0.9999987 TRUE 1.23516e-05 ENSE00002358672_015 ENSE00002358672 015 12 120204859 120205028 - 32 96 42 G A 120205008 3438 21 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAATCAGGTGTGCAGAGGGCAGG 119767054 119767224 119767203 119767204 119767204 upstr_intron -22 -0.5 CCTGCCCTCTGCACACCTGATTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 1058 110 0.9977808 1 0.9988904 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.0948929 0.2261579 0.9628912 0.838365 NA 0.1605254 NA FALSE NA 0.121 0.117 . intron_variant MODIFIER CIT HGNC 1985 ENST00000392520 8/37 1 NA AGT G,A 4.942e-05 12:119767204 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 intron_variant 1.223844 0.85728 0.08834 0.099367 0.729693 0.214882 0.9999987 TRUE 3.39426e-05 ENSE00002358672_016 ENSE00002358672 016 12 120204859 120205028 - 32 96 42 C A 120205010 3439 19 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTAAGGTGTGCAGAGGGCAGG 119767054 119767224 119767205 119767206 119767206 upstr_intron -24 -0.547619 CCTGCCCTCTGCACACCTTACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 132 1431 0.9949024 0.9927952 0.9938488 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.09201448 0.2189531 0.9628912 0.838365 NA 0.1554838 NA FALSE NA 1 1.562 . intron_variant MODIFIER CIT HGNC 1985 ENST00000392520 8/37 1 NA TCA C,A 8.237e-06 12:119767206 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 intron_variant 2.076717 0.99055 0.96378 0.099367 0.7671712 0.755015 0.9999987 TRUE 2.99255e-05 ENSE00002358672_018 ENSE00002358672 018 12 120204859 120205028 - 32 96 42 T C 120205014 3441 15 CAAGGCCAGGGAAGATCAGAAAATGTCTTTACTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCCTAGACACAAAAGAAAAGACAGTCAGGCGTGCAGAGGGCAGG 119767054 119767224 119767209 119767210 119767210 upstr_intron -28 -0.6428571 CCTGCCCTCTGCACGCCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG mutant NA NA NA NA NA 310 262 0.9995053 0.9814465 0.9904759 0.9403788 0.9854037 0.9028879 0.7738421 NA NA 0.09661739 0.2076044 0.9628912 0.838365 NA 0.1521109 NA FALSE NA 0.004 0.192 . intron_variant MODIFIER CIT HGNC 1985 ENST00000392520 8/37 1 NA GTG T,C 8.237e-06 12:119767210 CIT HGNC Symbol protein_coding 191501 ENSG00000122966 ENSE00003644069 intron_variant 1.508491 0.23707 0.0259 0.099367 0.5712428 0.152421 0.9999987 TRUE 8.63946e-06 ENSE00002358672_BRK ENSE00002358672 BRK 12 120204859 120205028 - 32 96 42 A,G; T,T NA NA NA CAAGGCCAGGGAAGATCAGAAAATGTCTTTGGTTTAATCTTTTCCTCATAGTGCTGCTCTTTCTGTTTCAGGTGCACTTCTAGGTGCTGGGCTGAGACTTGGGCCTCCCGATGTTTCTCTTCGAGCTCAAAGACACAAAAGAAAAGACAGTCAGGTGTGCAGAGGGCAGG 119767054 119767224 NA NA NA NA NA NA CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTTTGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAACCAAAGACATTTTCTGATCTTCCCTGGCCTTG CCTGCCCTCTGCACACCTGACTGTCTTTTCTTTTGTGTCTAGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTAAAGACATTTTCTGATCTTCCCTGGCCTTG control 246 75 0 0 0 194 268 0 0.02511673 0.01255836 0.9403788 0.9854037 0.9028879 0.7738421 -0.9403788 -0.9854037 -0.9028879 -0.7487254 0.9628912 0.838365 -0.9628912 -0.8258067 0.1370846 TRUE TRUE NA NA NA NA NA CIT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CIT NA NA NA ENSG00000122966 ENSE00003644069 NA NA NA NA NA NA NA 0.9999987 TRUE NA ENSE00002358782_000 ENSE00002358782 000 12 121707278 121707447 - 53 54 63 NA NA NA NA NA GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 NA NA NA NA NA NA GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC natural 80 54 0.9554538 0.9923797 0.9739167 977 1616 0.8081306 0.9739063 0.8910185 0.9554538 0.9923797 0.8081306 0.9739063 0 0 0 0 0.9739167 0.8910185 0 0 0 FALSE FALSE NA NA NA NA NA CAMKK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMKK2 NA NA NA ENSG00000110931 ENSE00003593976 NA NA NA NA NA NA NA 0.5034759 FALSE NA ENSE00002358782_001 ENSE00002358782 001 12 121707278 121707447 - 53 54 63 T C 121707288 3656 160 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACGGAAGAGCCTC 121269474 121269644 121269484 121269485 121269485 downstr_intron 43 1.826923 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACGGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 142 90 1 0.972689 0.9863445 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1918694 -0.001217335 0.9739167 0.8910185 NA 0.09532602 NA FALSE NA 0 0.135 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 1 NA CTG T,C 1.652e-05 12:121269485 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 intron_variant 0.541115 0.22243 0.07584 0.156188 0.8433578 0.0475944 0.5034759 FALSE 1.0151e-05 ENSE00002358782_002 ENSE00002358782 002 12 121707278 121707447 - 53 54 63 A G 121707295 3657 153 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTCATCCACAGAAGAGCCTC 121269474 121269644 121269491 121269492 121269492 downstr_intron 36 1.692308 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTCATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 91 26 1 0.9858339 0.992917 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1918694 0.01192762 0.9739167 0.8910185 NA 0.1018985 NA FALSE NA 0 0.099 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 1 NA TAA A,G 8.254e-06 12:121269492 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 intron_variant 0.151675 0.14302 0.0381 0.295142 0.6724615 0.0475944 0.5034759 FALSE NA ENSE00002358782_003 ENSE00002358782 003 12 121707278 121707447 - 53 54 63 A T 121707296 3658 152 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCATATCCACAGAAGAGCCTC 121269474 121269644 121269492 121269493 121269493 downstr_intron 35 1.673077 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCATATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 701 297 0.9467113 0.9864489 0.9665801 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1385807 0.0125426 0.9739167 0.8910185 NA 0.07556165 NA FALSE NA 0.001 0.75 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121269493 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 intron_variant 0.254517 0.33228 0.18345 0.295142 0.7877903 0.0475944 0.5034759 FALSE 3.87747e-05 ENSE00002358782_005 ENSE00002358782 005 12 121707278 121707447 - 53 54 63 G C 121707302 3660 146 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCGCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269498 121269499 121269499 downstr_intron 29 1.557692 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCGCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 10 45 1 1 1 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1918694 0.0260937 0.9739167 0.8910185 NA 0.1089815 NA FALSE NA 0.03 0.349 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121269499 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 intron_variant -0.183491 0.22422 0.23203 0.295142 0.5061689 0.0624595 0.5034759 FALSE 9.44225e-06 ENSE00002358782_006 ENSE00002358782 006 12 121707278 121707447 - 53 54 63 G T 121707302 3661 146 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCACATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269498 121269499 121269499 downstr_intron 29 1.557692 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCACATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 162 74 0.9992354 0.9978568 0.9985461 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1911048 0.02395045 0.9739167 0.8910185 NA 0.1075276 NA FALSE NA 0.03 0.349 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMKK2 NA NA NA ENSG00000110931 ENSE00003593976 intron_variant -0.100162 0.22154 0.22463 0.295142 0.652388 0.0624595 0.5034759 FALSE 3.7769e-05 ENSE00002358782_008 ENSE00002358782 008 12 121707278 121707447 - 53 54 63 G T 121707305 3663 143 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGACCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269501 121269502 121269502 downstr_intron 26 1.5 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGACCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 112 348 1 0.9993411 0.9996706 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1918694 0.02543484 0.9739167 0.8910185 NA 0.1086521 NA FALSE NA 0 -0.254 NA NA NA CAMKK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:121269502 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 intron_variant -0.059369 0.17123 0.0504 0.295142 0.5442807 0.0624595 0.5034759 FALSE NA ENSE00002358782_009 ENSE00002358782 009 12 121707278 121707447 - 53 54 63 C A 121707320 3664 128 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCTCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269516 121269517 121269517 downstr_intron 11 1.211538 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCTCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 36 81 0.8 0.9995288 0.8997644 0.9554538 0.9923797 0.8081306 0.9739063 NA NA -0.008130626 0.02562247 0.9739167 0.8910185 NA 0.008745923 NA FALSE NA 0 -0.9 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 1 NA GCG C,A 8.245e-06 12:121269517 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 intron_variant 0.674875 0.17797 0.01465 0.295142 0.8412048 0.0550812 0.5034759 FALSE NA ENSE00002358782_010 ENSE00002358782 010 12 121707278 121707447 - 53 54 63 G A 121707321 3665 127 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCTGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269517 121269518 121269518 downstr_intron 10 1.192308 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCTGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 21 154 1 1 1 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1918694 0.0260937 0.9739167 0.8910185 NA 0.1089815 NA FALSE NA 0.001 0.426 rs1109453 intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 rs1109453 1 A:0.2839 A:0.472 A:0.2219 NA A:0.0159 A:0.33 A:0.3027 A:0.4256 A:0.3316 CGG G,A 0.281 12:121269518 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 intron_variant 0.779166 0.39965 0.20213 0.295142 0.8126386 0.0550812 0.5034759 FALSE 0.281902 ENSE00002358782_011 ENSE00002358782 011 12 121707278 121707447 - 53 54 63 T C 121707335 3666 113 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTGCTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269531 121269532 121269532 exon -5 0.9259259 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTGCTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 318 157 0.9739183 0.9989913 0.9864548 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1657877 0.02508502 0.9739167 0.8910185 NA 0.09543635 NA FALSE NA 1 7.08 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 1 NA GTA T,C 1.648e-05 12:121269532 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 missense_variant 5.740993 0.9883 0.98648 0.732398 0.9982848 0 0.5034759 FALSE 8.58546e-06 ENSE00002358782_012 ENSE00002358782 012 12 121707278 121707447 - 53 54 63 T C 121707356 3667 92 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTGCAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269552 121269553 121269553 exon -26 0.537037 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTGCAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 152 411 1 0.8349362 0.9174681 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1918694 -0.1389701 0.9739167 0.8910185 NA 0.02644965 NA FALSE NA 1 7.08 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 COSM1359444&COSM1359445 1 NA GTA T,C 1.648e-05 12:121269553 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 missense_variant 3.945643 0.98865 0.98668 0.732398 0.9983704 0 0.5034759 FALSE NA ENSE00002358782_013 ENSE00002358782 013 12 121707278 121707447 - 53 54 63 C A 121707383 3668 65 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGTCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269579 121269580 121269580 exon 2 0.03703704 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGTCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 762 218 0.994283 0.9992738 0.9967784 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1861524 0.02536754 0.9739167 0.8910185 NA 0.10576 NA FALSE NA 1 6.888 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 1 NA GCC C,A 8.239e-06 12:121269580 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 missense_variant 7.11942 0.99145 0.99008 0.732398 0.9978098 0 0.5034759 FALSE NA ENSE00002358782_015 ENSE00002358782 015 12 121707278 121707447 - 53 54 63 A G 121707405 3670 43 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCACGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269601 121269602 121269602 upstr_intron -21 -0.3174603 GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCACGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 25 234 1 1 1 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1918694 0.0260937 0.9739167 0.8910185 NA 0.1089815 NA FALSE NA 0 -0.445 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 1 NA CAT A,G 8.249e-06 12:121269602 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 non_coding_transcript_exon_variant 1.447921 0.17542 0.0332 0.163922 0.7144295 0.046323 0.5034759 FALSE NA ENSE00002358782_016 ENSE00002358782 016 12 121707278 121707447 - 53 54 63 T C 121707416 3671 32 GGGTTCTCATTTTGCAGATCTTAACTTCTGGGTAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269612 121269613 121269613 upstr_intron -32 -0.4920635 GGGTTCTCATTTTGCAGATCTTAACTTCTGGGTAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 698 200 0.9962275 0.9300181 0.9631228 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1880969 -0.04388817 0.9739167 0.8910185 NA 0.07210436 NA FALSE NA 0 -1.534 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 1 NA ATC T,C 8.259e-06 12:121269613 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 non_coding_transcript_exon_variant 0.494959 0.19607 0.0375 0.163922 0.6987164 0.046323 0.5034759 FALSE NA ENSE00002358782_017 ENSE00002358782 017 12 121707278 121707447 - 53 54 63 G T 121707428 3672 20 GGGTTCTCATTTTGCAGATATTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 121269624 121269625 121269625 upstr_intron -44 -0.6825397 GGGTTCTCATTTTGCAGATATTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC mutant NA NA NA NA NA 684 709 0.9966222 0.9828916 0.9897569 0.9554538 0.9923797 0.8081306 0.9739063 NA NA 0.1884916 0.008985302 0.9739167 0.8910185 NA 0.09873844 NA FALSE NA 0 0.465 . intron_variant&non_coding_transcript_variant MODIFIER CAMKK2 HGNC 1470 ENST00000535524 2/3 1 NA AGA G,T 8.283e-06 12:121269625 CAMKK2 HGNC Symbol protein_coding 60617 ENSG00000110931 ENSE00003593976 splice_region_variant 0.563612 0.21912 0.15294 0.163922 0.7493817 0.046875 0.5034759 FALSE NA ENSE00002358782_BRK ENSE00002358782 BRK 12 121707278 121707447 - 53 54 63 A,G; T,T NA NA NA GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCTTGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATCCGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC 121269474 121269644 NA NA NA NA NA NA GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCTTGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATCCGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC GGGTTCTCATTTTGCAGATCTTAACTTCTGGATAGTATGTCATGGGCATCTCCCTTTATCCAGGGCTCCTATGGTGTCGTCAAGTTGGCCTACAATGAAAATGACAATACCTACTATGTGAGTATCCGCATTCTCCTCCCTGCCCCCATCCTTATCCACAGAAGAGCCTC control 89 52 0 0 0 60 59 0 0 0 0.9554538 0.9923797 0.8081306 0.9739063 -0.9554538 -0.9923797 -0.8081306 -0.9739063 0.9739167 0.8910185 -0.9739167 -0.8910185 0.08289827 TRUE TRUE NA NA NA NA NA CAMKK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMKK2 NA NA NA ENSG00000110931 ENSE00003593976 NA NA NA NA NA NA NA 0.5034759 FALSE NA ENSE00002358968_000 ENSE00002358968 000 5 135560923 135561092 - 39 81 50 NA NA NA NA NA GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA 136225234 136225404 NA NA NA NA NA NA GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA natural 28 21 0.9560383 0.9475632 0.9518008 1025 1527 0.9914725 0.9416096 0.966541 0.9560383 0.9475632 0.9914725 0.9416096 0 0 0 0 0.9518008 0.966541 0 0 0 FALSE FALSE NA NA NA NA NA TRPC7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPC7 NA NA NA ENSG00000069018 ENSE00003679689 NA NA NA NA NA NA NA 0.002986152 FALSE NA ENSE00002358968_006 ENSE00002358968 006 5 135560923 135561092 - 39 81 50 G C 135560972 1272 121 GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCAGCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA 136225234 136225404 136225283 136225284 136225284 exon -11 0.8765432 GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCAGCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA mutant NA NA NA NA NA 20 23 1 1 1 0.9560383 0.9475632 0.9914725 0.9416096 NA NA 0.008527482 0.05839045 0.9518008 0.966541 NA 0.03345897 NA FALSE NA 1 6.152 . missense_variant MODERATE TRPC7 HGNC 20754 ENST00000502753 8/10 rs541100865 1 benign(0.031) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 GGT G,C 8.273e-06 5:136225284 TRPC7 HGNC Symbol protein_coding 152225 ENSG00000069018 ENSE00003679689 missense_variant 1.55782 0.98579 0.96857 0.487112 0.7483639 0 0.002986152 FALSE 4.08157e-06 ENSE00002358968_012 ENSE00002358968 012 5 135560923 135561092 - 39 81 50 T A 135561021 1278 72 GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCTTGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA 136225234 136225404 136225332 136225333 136225333 exon 22 0.2716049 GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCTTGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA mutant NA NA NA NA NA 271 28 1 1 1 0.9560383 0.9475632 0.9914725 0.9416096 NA NA 0.008527482 0.05839045 0.9518008 0.966541 NA 0.03345897 NA FALSE NA 1 1.259 . missense_variant MODERATE TRPC7 HGNC 20754 ENST00000502753 8/10 1 benign(0) NA ATG T,A 1.654e-05 5:136225333 TRPC7 HGNC Symbol protein_coding 152225 ENSG00000069018 ENSE00003679689 missense_variant 1.57921 0.98091 0.85955 0.487112 0.8691638 0 0.002986152 FALSE 1.63361e-05 ENSE00002358968_013 ENSE00002358968 013 5 135560923 135561092 - 39 81 50 G A 135561026 1279 67 GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGTTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA 136225234 136225404 136225337 136225338 136225338 exon 17 0.2098765 GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGTTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA GCATGTATGTTTTTCTGTGTGATGTGTGTGGGTTTGTTTGTTTTATCCAGAAGACTCGCTACCAGGCTGGCATGAGGAATTCTGAAAATCTGACAGCAAATAACACTTTGAGCAAGCCCACCAGATACCAGGTAACCACCCCTTTCCCAAGCATCCAAGCATGGGCAGAA mutant NA NA NA NA NA 28 69 0.95 0.9812077 0.9656038 0.9560383 0.9475632 0.9914725 0.9416096 NA NA -0.04147252 0.03959813 0.9518008 0.966541 NA -0.000937192 NA FALSE NA 1 6.152 . missense_variant MODERATE TRPC7 HGNC 20754 ENST00000502753 8/10 rs199611331 1 benign(0.001) NA A:0.0013 A:0 AGC G,A 5.791e-05 5:136225338 TRPC7 HGNC Symbol protein_coding 152225 ENSG00000069018 ENSE00003679689 missense_variant 3.274699 0.99327 0.98035 0.487112 0.9956896 0 0.002986152 FALSE 5.3151e-05 ENSE00002359074_000 ENSE00002359074 000 2 68620246 68620415 + 48 84 38 NA NA NA NA NA TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 NA NA NA NA NA NA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA natural NA NA NA NA NA 4661 5870 0.9164587 0.9499595 0.9332091 NA NA 0.9164587 0.9499595 NA NA 0 0 NA 0.9332091 NA 0 NA FALSE NA NA NA NA NA NA PLEK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEK NA NA NA ENSG00000115956 ENSE00003577887 NA NA NA NA NA NA NA 0.1402739 FALSE NA ENSE00002359074_002 ENSE00002359074 002 2 68620246 68620415 + 48 84 38 A C 68620274 1342 29 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATGAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393141 68393142 68393142 upstr_intron -20 -0.3958333 ATGCTGGGAATTCACCATCCCTTCTTTTCATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 2471 786 0.9974085 0.9103759 0.9538922 NA NA 0.9164587 0.9499595 NA NA 0.08094975 -0.03958366 NA 0.9332091 NA 0.02068304 NA FALSE NA 0.008 -0.917 . intron_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 1/3 1 NA TAA A,C 8.237e-06 2:68393142 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 intron_variant -0.709212 0.28623 0.09955 0.12189 0.428929 0.0998247 0.1402739 FALSE 4.06702e-06 ENSE00002359074_005 ENSE00002359074 005 2 68620246 68620415 + 48 84 38 G C 68620287 1345 42 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATGCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393154 68393155 68393155 upstr_intron -7 -0.125 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGCATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 308 694 0.9934677 1 0.9967339 NA NA 0.9164587 0.9499595 NA NA 0.07700901 0.05004047 NA 0.9332091 NA 0.06352474 NA FALSE NA 0.559 0.331 rs74569104 splice_region_variant&intron_variant&non_coding_transcript_variant LOW PLEK HGNC 9070 ENST00000474788 1/3 rs74569104 1 C:0.0028 C:0 C:0 NA C:0.0139 C:0 C:0 GGA G,C 0.0008978 2:68393155 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 splice_region_variant 1.148272 0.35133 0.47344 0.12189 0.6952848 0.23429 0.1402739 FALSE 0.000715662 ENSE00002359074_006 ENSE00002359074 006 2 68620246 68620415 + 48 84 38 A T 68620288 1346 43 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTAACCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393155 68393156 68393156 upstr_intron -6 -0.1041667 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGTTACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 933 177 0.9994695 1 0.9997347 NA NA 0.9164587 0.9499595 NA NA 0.08301078 0.05004047 NA 0.9332091 NA 0.06652562 NA FALSE NA 0.584 0.816 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PLEK HGNC 9070 ENST00000474788 1/3 1 NA GAT A,T 8.236e-06 2:68393156 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 splice_region_variant 1.165537 0.32293 0.15369 0.12189 0.7098382 0.23429 0.1402739 FALSE 4.06534e-06 ENSE00002359074_007 ENSE00002359074 007 2 68620246 68620415 + 48 84 38 G C 68620296 1347 51 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGGCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393163 68393164 68393164 exon 3 0.03571429 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGCCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 759 515 0.9991838 0.9992576 0.9992207 NA NA 0.9164587 0.9499595 NA NA 0.08272513 0.04929806 NA 0.9332091 NA 0.0660116 NA FALSE NA 0.047 -0.38 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:68393164 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 splice_region_variant 1.144723 0.91826 0.31771 0.542737 0.8330424 0 0.1402739 FALSE 8.13074e-06 ENSE00002359074_008 ENSE00002359074 008 2 68620246 68620415 + 48 84 38 G T 68620296 1348 51 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGACCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393163 68393164 68393164 exon 3 0.03571429 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGTCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 509 1910 0.8559078 0.8875306 0.8717192 NA NA 0.9164587 0.9499595 NA NA -0.06055093 -0.06242889 NA 0.9332091 NA -0.06148991 NA FALSE NA 0.047 -0.38 NA NA NA PLEK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEK NA NA NA ENSG00000115956 ENSE00003577887 splice_region_variant 1.292415 0.91517 0.26916 0.542737 0.8106707 0 0.1402739 FALSE 8.13074e-06 ENSE00002359074_009 ENSE00002359074 009 2 68620246 68620415 + 48 84 38 T C 68620299 1349 54 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTGTGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393166 68393167 68393167 exon 6 0.07142857 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCACAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 1738 173 0.9991682 1 0.9995841 NA NA 0.9164587 0.9499595 NA NA 0.08270946 0.05004047 NA 0.9332091 NA 0.06637496 NA FALSE NA 0.989 0.583 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/4 1 NA ATA T,C 8.236e-06 2:68393167 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 synonymous_variant -0.046352 0.93638 0.59864 0.542737 0.6530605 0 0.1402739 FALSE 4.06494e-06 ENSE00002359074_010 ENSE00002359074 010 2 68620246 68620415 + 48 84 38 G C 68620335 1350 90 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTGAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393202 68393203 68393203 exon 42 0.5 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTCAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 550 3353 0.9804903 0.9987717 0.989631 NA NA 0.9164587 0.9499595 NA NA 0.06403158 0.04881213 NA 0.9332091 NA 0.05642185 NA FALSE NA 1 2.724 rs146499837 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/4 rs146499837 1 NA C:0 C:0.0001 TGA G,C 8.236e-06 2:68393203 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 missense_variant 6.141795 0.97452 0.87001 0.542737 0.9990524 0 0.1402739 FALSE 4.06428e-06 ENSE00002359074_011 ENSE00002359074 011 2 68620246 68620415 + 48 84 38 C A 68620344 1351 99 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGTTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393211 68393212 68393212 exon -34 0.6071429 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGAACCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 813 1357 0.9752123 0.999972 0.9875921 NA NA 0.9164587 0.9499595 NA NA 0.05875361 0.05001242 NA 0.9332091 NA 0.05438302 NA FALSE NA 0.997 0.581 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/4 1 NA ACC C,A 8.236e-06 2:68393212 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 missense_variant 4.26361 0.94231 0.77473 0.542737 0.9961715 0 0.1402739 FALSE 4.06369e-06 ENSE00002359074_012 ENSE00002359074 012 2 68620246 68620415 + 48 84 38 G C 68620348 1352 103 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGGAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393215 68393216 68393216 exon -30 0.6547619 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTCCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 752 410 0.9980131 0.8011777 0.8995954 NA NA 0.9164587 0.9499595 NA NA 0.08155436 -0.1487818 NA 0.9332091 NA -0.03361374 NA FALSE NA 1 7.421 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/4 1 NA TGC G,C 8.236e-06 2:68393216 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 missense_variant 5.190398 0.9734 0.93933 0.542737 0.9971203 0 0.1402739 FALSE 4.06336e-06 ENSE00002359074_013 ENSE00002359074 013 2 68620246 68620415 + 48 84 38 C T 68620353 1353 108 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGATAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393220 68393221 68393221 exon -25 0.7142857 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTATCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 723 1689 1 0.9960753 0.9980376 NA NA 0.9164587 0.9499595 NA NA 0.08354129 0.04611573 NA 0.9332091 NA 0.06482851 NA FALSE NA 0.001 -0.528 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/4 1 NA ACC C,T 1.647e-05 2:68393221 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 synonymous_variant 0.866088 0.31438 0.06718 0.542737 0.4365837 0 0.1402739 FALSE 1.21902e-05 ENSE00002359074_014 ENSE00002359074 014 2 68620246 68620415 + 48 84 38 C A 68620357 1354 112 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTTCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393224 68393225 68393225 exon -21 0.7619048 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGAACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 902 847 0.9948487 0.9976665 0.9962576 NA NA 0.9164587 0.9499595 NA NA 0.07839 0.04770697 NA 0.9332091 NA 0.06304849 NA FALSE NA 1 7.47 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/4 1 NA GCA C,A 8.236e-06 2:68393225 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 missense_variant 6.658111 0.98231 0.94919 0.542737 0.9934281 0 0.1402739 FALSE 4.06322e-06 ENSE00002359074_016 ENSE00002359074 016 2 68620246 68620415 + 48 84 38 A G 68620364 1356 119 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCACAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393231 68393232 68393232 exon -14 0.8452381 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTGTGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 207 318 0.9945717 1 0.9972858 NA NA 0.9164587 0.9499595 NA NA 0.07811298 0.05004047 NA 0.9332091 NA 0.06407672 NA FALSE NA 1 8.908 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/4 1 NA TAT A,G 8.236e-06 2:68393232 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 missense_variant 5.106142 0.97745 0.95527 0.542737 0.9962715 0 0.1402739 FALSE 4.06355e-06 ENSE00002359074_017 ENSE00002359074 017 2 68620246 68620415 + 48 84 38 T C 68620365 1357 120 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCGTAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393232 68393233 68393233 exon -13 0.8571429 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTACGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 1610 2337 0.9840665 0.995484 0.9897753 NA NA 0.9164587 0.9499595 NA NA 0.06760783 0.04552446 NA 0.9332091 NA 0.05656615 NA FALSE NA 0.003 -1.344 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/4 rs375193206 1 NA C:0 C:0.0001 ATG T,C 1.647e-05 2:68393233 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 synonymous_variant -1.024589 0.72735 0.10099 0.542737 0.324302 0 0.1402739 FALSE 1.62526e-05 ENSE00002359074_018 ENSE00002359074 018 2 68620246 68620415 + 48 84 38 G T 68620375 1358 130 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCCAAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393242 68393243 68393243 exon -3 0.9761905 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTTGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 429 326 1 0.9956836 0.9978418 NA NA 0.9164587 0.9499595 NA NA 0.08354129 0.04572403 NA 0.9332091 NA 0.06463266 NA FALSE NA 1 5.897 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PLEK HGNC 9070 ENST00000474788 2/4 1 NA TGG G,T 8.236e-06 2:68393243 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 missense_variant 6.611151 0.96323 0.86768 0.542737 0.9940642 0 0.1402739 FALSE 4.06408e-06 ENSE00002359074_019 ENSE00002359074 019 2 68620246 68620415 + 48 84 38 G A 68620376 1359 131 TATTTATTTGAATGGATTTATGAACCACAGGACCTTACCTCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393243 68393244 68393244 exon -2 0.9880952 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGAGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 922 274 0.990721 0.9991623 0.9949416 NA NA 0.9164587 0.9499595 NA NA 0.07426227 0.04920273 NA 0.9332091 NA 0.0617325 NA FALSE NA 1 5.91 rs143225942 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PLEK HGNC 9070 ENST00000474788 2/4 rs143225942 1 NA A:0 A:0.0001 GGG G,A 8.236e-06 2:68393244 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 missense_variant 4.614692 0.96124 0.81151 0.542737 0.9967621 0 0.1402739 FALSE 4.06448e-06 ENSE00002359074_020 ENSE00002359074 020 2 68620246 68620415 + 48 84 38 T A 68620384 1360 139 TATTTATTTGAATGGATTTATGAACCACAGGTCCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393251 68393252 68393252 downstr_intron 7 1.189189 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGACCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 253 72 1 1 1 NA NA 0.9164587 0.9499595 NA NA 0.08354129 0.05004047 NA 0.9332091 NA 0.06679088 NA FALSE NA 0 -0.812 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:68393252 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 splice_region_variant 0.026648 0.27872 0.08111 0.096616 0.483746 0.0689526 0.1402739 FALSE 0.000158568 ENSE00002359074_021 ENSE00002359074 021 2 68620246 68620415 + 48 84 38 T C 68620384 1361 139 TATTTATTTGAATGGATTTATGAACCACAGGGCCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393251 68393252 68393252 downstr_intron 7 1.189189 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGCCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 20 335 1 0.9882551 0.9941276 NA NA 0.9164587 0.9499595 NA NA 0.08354129 0.03829561 NA 0.9332091 NA 0.06091845 NA FALSE NA 0 -0.812 NA NA NA PLEK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEK NA NA NA ENSG00000115956 ENSE00003577887 splice_region_variant -0.395826 0.27678 0.07994 0.096616 0.4549261 0.0689526 0.1402739 FALSE 1.21975e-05 ENSE00002359074_022 ENSE00002359074 022 2 68620246 68620415 + 48 84 38 G A 68620388 1362 143 TATTTATTTGAATGGATTTATGAACCATAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393255 68393256 68393256 downstr_intron 11 1.297297 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTATGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 582 190 0.9997366 1 0.9998683 NA NA 0.9164587 0.9499595 NA NA 0.08327789 0.05004047 NA 0.9332091 NA 0.06665918 NA FALSE NA 0 -0.342 . intron_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/3 rs370959190 1 NA A:0.0005 A:0 TGT G,A 2.471e-05 2:68393256 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 intron_variant 0.146256 0.32009 0.06765 0.096616 0.3728265 0.0689526 0.1402739 FALSE 1.62631e-05 ENSE00002359074_023 ENSE00002359074 023 2 68620246 68620415 + 48 84 38 G A 68620390 1363 145 TATTTATTTGAATGGATTTATGAACTACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393257 68393258 68393258 downstr_intron 13 1.351351 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTAGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 428 540 0.8219565 1 0.9109783 NA NA 0.9164587 0.9499595 NA NA -0.09450217 0.05004047 NA 0.9332091 NA -0.02223085 NA FALSE NA 0.742 6.021 . intron_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/3 1 NA TGG G,A 8.236e-06 2:68393258 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 intron_variant 0.645916 0.89543 0.9276 0.096616 0.4121864 0.936262 0.1402739 FALSE 4.06643e-06 ENSE00002359074_024 ENSE00002359074 024 2 68620246 68620415 + 48 84 38 A G 68620403 1364 158 TATTTATTTGAACGGATTTATGAACCACAGGACCTTACCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCCTGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 68393270 68393271 68393271 downstr_intron 26 1.702703 ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCGTTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA mutant NA NA NA NA NA 95 459 1 0.9868115 0.9934058 NA NA 0.9164587 0.9499595 NA NA 0.08354129 0.03685201 NA 0.9332091 NA 0.06019665 NA FALSE NA 0 -0.142 . intron_variant&non_coding_transcript_variant MODIFIER PLEK HGNC 9070 ENST00000474788 2/3 1 NA CAT A,G 8.237e-06 2:68393271 PLEK HGNC Symbol protein_coding 32280 ENSG00000115956 ENSE00003577887 intron_variant 0.560127 0.22496 0.05978 0.096616 0.7971507 0.0481801 0.1402739 FALSE 4.07249e-06 ENSE00002359074_BRK ENSE00002359074 BRK 2 68620246 68620415 + 48 84 38 A,G; T,T NA NA NA TATTTATTTGAATGGATTTATGAACCACAGGACCTTGGCCCAGCAGGGTCATAGTAGTGCAGGTAGGCAGGGTCTTCTCTCAAGATGAACTTCCTCACTTTCCAGTTTTTCCTTCTATGCCCAAGTATCCAGGATCAACATTAAAAGAAGGGATGGTGAATTCCCAGCAT 68393113 68393283 NA NA NA NA NA NA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACTTGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGCCAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA ATGCTGGGAATTCACCATCCCTTCTTTTAATGTTGATCCTGGATACAGGGGCATAGAAGGAAAAACTGGAAAGTGAGGAAGTTCATCTTGAGAGAAGACCCTGCCTACCTGCACTACTATGACCCTGCTGGGGTAAGGTCCTGTGGTTCATAAATCCATTCAAATAAATA control NA NA NA NA NA 2314 387 0.1922169 0 0.09610846 NA NA 0.9164587 0.9499595 NA NA -0.7242418 -0.9499595 NA 0.9332091 NA -0.8371007 NA TRUE NA NA NA NA NA NA PLEK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PLEK NA NA NA ENSG00000115956 ENSE00003577887 NA NA NA NA NA NA NA 0.1402739 FALSE NA ENSE00002359127_000 ENSE00002359127 000 5 169484537 169484706 + 47 87 36 NA NA NA NA NA TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 NA NA NA NA NA NA TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC natural 21 47 0.9986612 0.9934721 0.9960666 2387 1174 0.9473011 0.9990215 0.9731613 0.9986612 0.9934721 0.9473011 0.9990215 0 0 0 0 0.9960666 0.9731613 0 0 0 FALSE FALSE NA NA NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003668719 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002359127_001 ENSE00002359127 001 5 169484537 169484706 + 47 87 36 G C 169484572 2199 36 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTCCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057567 170057568 170057568 upstr_intron -12 -0.2340426 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTCCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 100 244 1 0.9914316 0.9957158 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 -0.00758991 0.9960666 0.9731613 NA 0.02255448 NA FALSE NA 0 -0.964 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 29/37 1 NA TGC G,C 8.236e-06 5:170057568 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 non_coding_transcript_exon_variant -0.246279 0.14993 0.00182 0.256867 0.6120888 0.132452 0.9999999 TRUE 1.21899e-05 ENSE00002359127_003 ENSE00002359127 003 5 169484537 169484706 + 47 87 36 C T 169484577 2201 41 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCATGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057572 170057573 170057573 upstr_intron -7 -0.1276596 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCATGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 12 201 1 1 1 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 0.0009784592 0.9960666 0.9731613 NA 0.02683867 NA FALSE NA 0 -2.092 . splice_region_variant&intron_variant LOW DOCK2 HGNC 2988 ENST00000540750 29/37 rs200706266 1 NA T:0 T:0.0001 ACG C,T 9.06e-05 5:170057573 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 splice_region_variant 0.133198 0.13193 0.01273 0.256867 0.6465197 0.133064 0.9999999 TRUE 9.34443e-05 ENSE00002359127_004 ENSE00002359127 004 5 169484537 169484706 + 47 87 36 G T 169484583 2202 47 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACATTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057578 170057579 170057579 upstr_intron -1 0 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACATTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 85 191 1 0.9772316 0.9886158 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 -0.02178992 0.9960666 0.9731613 NA 0.01545448 NA FALSE NA 1 9.868 . splice_acceptor_variant HIGH DOCK2 HGNC 2988 ENST00000540750 29/37 1 NA HC AGT G,T 8.236e-06 5:170057579 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 splice_acceptor_variant 5.594001 0.9955 0.994 0.256867 0.9950302 0.985632 0.9999999 TRUE 4.06273e-06 ENSE00002359127_005 ENSE00002359127 005 5 169484537 169484706 + 47 87 36 C T 169484610 2203 74 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTTGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057605 170057606 170057606 exon 27 0.3103448 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTTGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 60 265 1 0.9630828 0.9815414 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 -0.03593878 0.9960666 0.9731613 NA 0.008380047 NA FALSE NA 0.014 -0.115 . synonymous_variant LOW DOCK2 HGNC 2988 ENST00000540750 30/38 1 NA TCG C,T 8.236e-06 5:170057606 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 synonymous_variant 2.494225 0.9588 0.10082 0.67177 0.7231579 0 0.9999999 TRUE 4.06564e-06 ENSE00002359127_006 ENSE00002359127 006 5 169484537 169484706 + 47 87 36 G A 169484611 2204 75 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCATGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057606 170057607 170057607 exon 28 0.3218391 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCATGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 84 92 1 1 1 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 0.0009784592 0.9960666 0.9731613 NA 0.02683867 NA FALSE NA 0.014 0.145 rs143595882 missense_variant MODERATE DOCK2 HGNC 2988 ENST00000540750 30/38 rs143595882 1 benign(0.077) NA A:0.0005 A:0 CGT G,A 4.942e-05 5:170057607 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 missense_variant 1.831086 0.9548 0.1661 0.67177 0.9572407 0 0.9999999 TRUE 2.03293e-05 ENSE00002359127_007 ENSE00002359127 007 5 169484537 169484706 + 47 87 36 A T 169484619 2205 83 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCTTACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057614 170057615 170057615 exon 36 0.4137931 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCTTACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 158 12 1 1 1 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 0.0009784592 0.9960666 0.9731613 NA 0.02683867 NA FALSE NA 0 -8.051 . synonymous_variant LOW DOCK2 HGNC 2988 ENST00000540750 30/38 1 NA CAT A,T 8.236e-06 5:170057615 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 synonymous_variant 0.084254 0.24232 0.02313 0.67177 0.5222756 0 0.9999999 TRUE 4.06808e-06 ENSE00002359127_008 ENSE00002359127 008 5 169484537 169484706 + 47 87 36 C T 169484622 2206 86 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATATAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057617 170057618 170057618 exon 39 0.4482759 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATATAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 359 55 1 1 1 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 0.0009784592 0.9960666 0.9731613 NA 0.02683867 NA FALSE NA 1 2.654 . synonymous_variant LOW DOCK2 HGNC 2988 ENST00000540750 30/38 1 NA ACA C,T 2.471e-05 5:170057618 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 synonymous_variant 1.165951 0.98754 0.90383 0.67177 0.5504339 0 0.9999999 TRUE 3.66265e-05 ENSE00002359127_010 ENSE00002359127 010 5 169484537 169484706 + 47 87 36 G A 169484631 2208 95 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCAGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057626 170057627 170057627 exon -40 0.5517241 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCAGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 265 238 1 1 1 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 0.0009784592 0.9960666 0.9731613 NA 0.02683867 NA FALSE NA 0 -5.581 rs147192858 synonymous_variant LOW DOCK2 HGNC 2988 ENST00000540750 30/38 rs147192858 1 NA A:0 A:0.0002 CGG G,A 0.0001071 5:170057627 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 synonymous_variant 1.41162 0.05246 0.01079 0.67177 0.6764019 0 0.9999999 TRUE 0.000105907 ENSE00002359127_011 ENSE00002359127 011 5 169484537 169484706 + 47 87 36 C T 169484641 2209 105 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGTGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057636 170057637 170057637 exon -30 0.6666667 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGTGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 780 259 0.9984246 0.9932613 0.9958429 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05112343 -0.005760217 0.9960666 0.9731613 NA 0.02268161 NA FALSE NA 1 3.179 . missense_variant MODERATE DOCK2 HGNC 2988 ENST00000540750 30/38 rs374174531 1 probably_damaging(0.979) NA T:0 T:0.0001 GCG C,T 2.471e-05 5:170057637 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 missense_variant 7.943759 0.98897 0.9564 0.67177 0.9994169 0 0.9999999 TRUE 1.22403e-05 ENSE00002359127_012 ENSE00002359127 012 5 169484537 169484706 + 47 87 36 G A 169484642 2210 106 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCACTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057637 170057638 170057638 exon -29 0.6781609 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCACTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 133 355 1 0.9955186 0.9977593 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 -0.003502929 0.9960666 0.9731613 NA 0.02459797 NA FALSE NA 1 7.984 . missense_variant MODERATE DOCK2 HGNC 2988 ENST00000540750 30/38 1 probably_damaging(0.999) NA CGC G,A 8.236e-06 5:170057638 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 missense_variant 7.956615 0.99537 0.98815 0.67177 0.9995774 0 0.9999999 TRUE 1.22398e-05 ENSE00002359127_014 ENSE00002359127 014 5 169484537 169484706 + 47 87 36 G A 169484652 2212 116 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAAGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057647 170057648 170057648 exon -19 0.7931034 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAAGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 157 43 1 1 1 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 0.0009784592 0.9960666 0.9731613 NA 0.02683867 NA FALSE NA 1 1.366 . synonymous_variant LOW DOCK2 HGNC 2988 ENST00000540750 30/38 1 NA AGG G,A 1.647e-05 5:170057648 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 synonymous_variant 1.1586 0.97595 0.87014 0.67177 0.6125328 0 0.9999999 TRUE 8.18766e-06 ENSE00002359127_017 ENSE00002359127 017 5 169484537 169484706 + 47 87 36 G A 169484664 2215 128 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATATCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057659 170057660 170057660 exon -7 0.9310345 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATATCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 117 1098 0.9850246 1 0.9925123 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.03772352 0.0009784592 0.9960666 0.9731613 NA 0.01935099 NA FALSE NA 1 2.135 . missense_variant MODERATE DOCK2 HGNC 2988 ENST00000540750 30/38 1 benign(0.002) NA TGT G,A 8.236e-06 5:170057660 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 missense_variant 1.94721 0.97596 0.92967 0.67177 0.9463697 0 0.9999999 TRUE 4.13575e-06 ENSE00002359127_018 ENSE00002359127 018 5 169484537 169484706 + 47 87 36 C T 169484666 2216 130 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTTGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057661 170057662 170057662 exon -5 0.954023 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTTGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 314 201 0.9984166 1 0.9992083 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05111543 0.0009784592 0.9960666 0.9731613 NA 0.02604695 NA FALSE NA 1 5.95 rs149796867 missense_variant MODERATE DOCK2 HGNC 2988 ENST00000540750 30/38 rs149796867 1 benign(0.132) NA T:0 T:0.0001 TCG C,T 1.647e-05 5:170057662 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 missense_variant 4.098918 0.98657 0.97783 0.67177 0.9983962 0 0.9999999 TRUE 1.24415e-05 ENSE00002359127_019 ENSE00002359127 019 5 169484537 169484706 + 47 87 36 G A 169484667 2217 131 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCACAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 170057662 170057663 170057663 exon -4 0.9655172 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCACAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 261 1320 1 0.9991304 0.9995652 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 0.0001088142 0.9960666 0.9731613 NA 0.02640385 NA FALSE NA 0.78 -0.37 NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:170057663 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 synonymous_variant 1.086619 0.94947 0.1449 0.67177 0.6977034 0 0.9999999 TRUE 8.30351e-06 ENSE00002359127_021 ENSE00002359127 021 5 169484537 169484706 + 47 87 36 C T 169484687 2219 151 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTTGTGGCAGGGCCACCCTTCC 170057532 170057702 170057682 170057683 170057683 downstr_intron 17 1.485714 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTTGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 126 311 1 0.9736886 0.9868443 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.05269888 -0.02533296 0.9960666 0.9731613 NA 0.01368296 NA FALSE NA 0 -0.155 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 30/37 rs371945984 1 NA T:0 T:0.0001 TCG C,T 0.0002801 5:170057683 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 intron_variant -0.091504 0.18738 0.00378 0.067858 0.3828821 0.0769371 0.9999999 TRUE 0.000234985 ENSE00002359127_022 ENSE00002359127 022 5 169484537 169484706 + 47 87 36 G A 169484688 2220 152 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCATGGCAGGGCCACCCTTCC 170057532 170057702 170057683 170057684 170057684 downstr_intron 18 1.514286 TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCATGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC mutant NA NA NA NA NA 676 170 0.9969801 1 0.9984901 0.9986612 0.9934721 0.9473011 0.9990215 NA NA 0.04967902 0.0009784592 0.9960666 0.9731613 NA 0.02532874 NA FALSE NA 0 -2.884 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 30/37 rs376768017 1 NA A:0 A:0.0002 CGT G,A 9.061e-05 5:170057684 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003668719 intron_variant -0.556954 0.09883 0.00047 0.067858 0.4661278 0.0778546 0.9999999 TRUE 8.85073e-05 ENSE00002359127_BRK ENSE00002359127 BRK 5 169484537 169484706 + 47 87 36 A,G; T,T NA NA NA TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACTTTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGCCGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC 170057532 170057702 NA NA NA NA NA NA TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACTTTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGCCGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC TGTGTTTGTTGCTTTCCTGCCCTTGCCACCCCTCTGCCCACGGACAGTCCATGTGGATTGAGAGAACCTCCTTCGTGACTGCATACAAGCTGCCGGGGATCCTGCGCTGGTTTGAGGTGGTGCACATGTCGCAGGTGAGTCTGGGACATTCGTGGCAGGGCCACCCTTCC control NA NA NA NA NA 454 534 0 0.03374094 0.01687047 0.9986612 0.9934721 0.9473011 0.9990215 NA NA -0.9473011 -0.9652806 0.9960666 0.9731613 NA -0.9562909 NA TRUE NA NA NA NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003668719 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002359445_000 ENSE00002359445 000 20 34809736 34809905 + 50 81 39 NA NA NA NA NA GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 NA NA NA NA NA NA GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC natural 46 47 0.9812341 0.9416867 0.9614604 1145 1113 0.9298928 0.8634627 0.8966777 0.9812341 0.9416867 0.9298928 0.8634627 0 0 0 0 0.9614604 0.8966777 0 0 0 FALSE FALSE NA NA NA NA NA EPB41L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L1 NA NA NA ENSG00000088367 ENSE00003787834 NA NA NA NA NA NA NA 0.6453861 FALSE NA ENSE00002359445_002 ENSE00002359445 002 20 34809736 34809905 + 50 81 39 C T 34809752 939 17 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGAGTCCTGTTGGGGCAGC 36221813 36221983 36221829 36221830 36221830 upstr_intron -34 -0.66 GCTGCCCCAACAGGACTCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 160 60 1 1 1 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.07010724 0.1365373 0.9614604 0.8966777 NA 0.1033223 NA FALSE NA 0 0.197 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 2/4 1 NA CCC C,T 1.647e-05 20:36221830 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 intron_variant 1.83409 0.1691 0.01316 0.080785 0.8068968 0.111799 0.6453861 FALSE 3.65759e-05 ENSE00002359445_004 ENSE00002359445 004 20 34809736 34809905 + 50 81 39 A T 34809761 941 26 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGACACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221838 36221839 36221839 upstr_intron -25 -0.48 GCTGCCCCAACAGGACCCAAGAGTGTCCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 154 388 1 0.991101 0.9955505 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.07010724 0.1276383 0.9614604 0.8966777 NA 0.09887276 NA FALSE NA 0.766 3.368 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 2/4 1 NA GAC A,T 8.238e-06 20:36221839 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 intron_variant 2.581797 0.97044 0.94231 0.080785 0.9426206 0.937235 0.6453861 FALSE 4.06256e-06 ENSE00002359445_005 ENSE00002359445 005 20 34809736 34809905 + 50 81 39 A G 34809766 942 31 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGCGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221843 36221844 36221844 upstr_intron -20 -0.38 GCTGCCCCAACAGGACCCAAGAGTGACCTCGCCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 19 318 0.8 0.9827038 0.8913519 0.9812341 0.9416867 0.9298928 0.8634627 NA NA -0.1298928 0.1192411 0.9614604 0.8966777 NA -0.005325846 NA FALSE NA 0 -1.038 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 2/4 1 NA CAC A,G 1.647e-05 20:36221844 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 intron_variant 2.107236 0.18466 0.0516 0.080785 0.8225001 0.234795 0.6453861 FALSE 2.43778e-05 ENSE00002359445_007 ENSE00002359445 007 20 34809736 34809905 + 50 81 39 A G 34809793 944 58 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTCTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221870 36221871 36221871 exon 8 0.09876543 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAGAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 126 34 1 1 1 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.07010724 0.1365373 0.9614604 0.8966777 NA 0.1033223 NA FALSE NA 1 8.963 . missense_variant MODERATE EPB41L1 HGNC 3378 ENST00000432603 3/5 1 deleterious(0) possibly_damaging(0.879) NA AAA A,G 1.647e-05 20:36221871 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 missense_variant 6.339583 0.99151 0.98812 0.752111 0.9986036 0 0.6453861 FALSE 1.21837e-05 ENSE00002359445_010 ENSE00002359445 010 20 34809736 34809905 + 50 81 39 C T 34809818 947 83 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCAATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221895 36221896 36221896 exon 33 0.4074074 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATTGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 166 100 1 0.9850106 0.9925053 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.07010724 0.1215479 0.9614604 0.8966777 NA 0.09582759 NA FALSE NA 0.078 -0.518 . synonymous_variant LOW EPB41L1 HGNC 3378 ENST00000432603 3/5 rs369911692 1 NA TCG C,T 8.236e-06 20:36221896 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 synonymous_variant 2.489139 0.95774 0.16279 0.752111 0.8003812 0 0.6453861 FALSE 1.62442e-05 ENSE00002359445_015 ENSE00002359445 015 20 34809736 34809905 + 50 81 39 C T 34809854 952 119 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATACCTGGTCTTGATCAACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221931 36221932 36221932 exon -13 0.8518519 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTTGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 27 558 1 0.8733562 0.9366781 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.07010724 0.009893517 0.9614604 0.8966777 NA 0.04000038 NA FALSE NA 0.012 -1.461 . synonymous_variant LOW EPB41L1 HGNC 3378 ENST00000432603 3/5 COSM357756 1 NA TCG C,T 8.236e-06 20:36221932 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 synonymous_variant 2.395815 0.52065 0.0473 0.693126 0.7360314 0 0.6453861 FALSE 8.12288e-06 ENSE00002359445_017 ENSE00002359445 017 20 34809736 34809905 + 50 81 39 C G 34809858 954 123 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATACCTGGTCTTCATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221935 36221936 36221936 exon -9 0.9012346 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATGAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 187 565 1 0.9986414 0.9993207 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.07010724 0.1351787 0.9614604 0.8966777 NA 0.102643 NA FALSE NA 1 7.487 . missense_variant MODERATE EPB41L1 HGNC 3378 ENST00000432603 3/5 1 deleterious(0) benign(0.437) NA TCA C,G 8.236e-06 20:36221936 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 missense_variant 5.693064 0.99387 0.98647 0.693126 0.9942195 0 0.6453861 FALSE 4.06128e-06 ENSE00002359445_019 ENSE00002359445 019 20 34809736 34809905 + 50 81 39 G A 34809872 956 137 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCTCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221949 36221950 36221950 downstr_intron 6 1.157895 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGAGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 433 1137 0.9927475 0.8735193 0.9331334 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.0628547 0.0100566 0.9614604 0.8966777 NA 0.03645565 NA FALSE NA 0.028 -0.101 . splice_region_variant&intron_variant LOW EPB41L1 HGNC 3378 ENST00000432603 3/4 rs541814985 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGG G,A 8.236e-06 20:36221950 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 splice_region_variant 0.627892 0.22859 0.04297 0.061011 0.6277032 0.212003 0.6453861 FALSE 8.12407e-06 ENSE00002359445_020 ENSE00002359445 020 20 34809736 34809905 + 50 81 39 G A 34809873 957 138 GGGCAGTGGCACTGGGAAGAACGGTTGCTACCTCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221950 36221951 36221951 downstr_intron 7 1.184211 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGAGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 436 78 1 1 1 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.07010724 0.1365373 0.9614604 0.8966777 NA 0.1033223 NA FALSE NA 0.031 1.697 . splice_region_variant&intron_variant LOW EPB41L1 HGNC 3378 ENST00000432603 3/4 1 NA GGG G,A 8.236e-06 20:36221951 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 splice_region_variant 0.783781 0.24729 0.05574 0.061011 0.56792 0.212003 0.6453861 FALSE 8.12407e-06 ENSE00002359445_022 ENSE00002359445 022 20 34809736 34809905 + 50 81 39 C T 34809883 959 148 GGGCAGTGGCACTGGGAAGAACAGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221960 36221961 36221961 downstr_intron 17 1.447368 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACTGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 835 118 0.9955658 0.9833688 0.9894673 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.06567301 0.1199061 0.9614604 0.8966777 NA 0.09278956 NA FALSE NA 0 -0.846 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 3/4 1 NA CCG C,T 2.471e-05 20:36221961 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 intron_variant -0.061761 0.18476 0.00259 0.061011 0.4219876 0.0455939 0.6453861 FALSE 2.03145e-05 ENSE00002359445_023 ENSE00002359445 023 20 34809736 34809905 + 50 81 39 G A 34809884 960 149 GGGCAGTGGCACTGGGAAGAATGGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221961 36221962 36221962 downstr_intron 18 1.473684 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCATTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 778 198 0.9953312 1 0.9976656 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.06543846 0.1365373 0.9614604 0.8966777 NA 0.1009879 NA FALSE NA 0 -3.418 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 3/4 rs377335344 1 NA CGT G,A 3.295e-05 20:36221962 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 intron_variant -0.158398 0.1402 0.00572 0.061011 0.4259512 0.0455939 0.6453861 FALSE 3.25108e-05 ENSE00002359445_025 ENSE00002359445 025 20 34809736 34809905 + 50 81 39 C T 34809891 962 156 GGGCAGTGGCACTGAGAAGAACGGTTGCTACCCCCATACCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTCTGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 36221968 36221969 36221969 downstr_intron 25 1.657895 GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCTCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC mutant NA NA NA NA NA 151 900 0.9921101 0.9968522 0.9944811 0.9812341 0.9416867 0.9298928 0.8634627 NA NA 0.06221732 0.1333895 0.9614604 0.8966777 NA 0.09780341 NA FALSE NA 0 -0.006 . intron_variant MODIFIER EPB41L1 HGNC 3378 ENST00000432603 3/4 1 NA CCC C,T 8.236e-06 20:36221969 EPB41L1 HGNC Symbol protein_coding 141295 ENSG00000088367 ENSE00003787834 intron_variant 0.420513 0.23819 0.11067 0.061011 0.7305604 0.0455939 0.6453861 FALSE 4.06402e-06 ENSE00002359445_BRK ENSE00002359445 BRK 20 34809736 34809905 + 50 81 39 A,G; T,T NA NA NA GGGCAGTGGCACTGGGAAGAACGGTTGCTACCCCCATGGCTGGTCTTGATCGACATCTTCATCCCCAGTAATGATGATTCGCTTCTCGATCCTTGTCTCAGAAAACCCTCCTTTCACAGTAAGCAGAGGGAGAGGGAGGTGAGGTCACTCTTGGGTCCTGTTGGGGCAGC 36221813 36221983 NA NA NA NA NA NA GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCTTACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGCCATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC GCTGCCCCAACAGGACCCAAGAGTGACCTCACCTCCCTCTCCCTCTGCAGACTGTGAAAGGAGGGTTTTCTGAGACAAGGATCGAGAAGCGAATCATCATTACTGGGGATGAAGATGTCGATCAAGACCAGGTATGGGGGTAGCAACCGTTCTTCCCAGTGCCACTGCCC control 274 223 0.01434557 0 0.007172786 733 43 0.00579512 0 0.00289756 0.9812341 0.9416867 0.9298928 0.8634627 -0.9668885 -0.9416867 -0.9240976 -0.8634627 0.9614604 0.8966777 -0.9542876 -0.8937802 0.06050745 TRUE TRUE NA NA NA NA NA EPB41L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EPB41L1 NA NA NA ENSG00000088367 ENSE00003787834 NA NA NA NA NA NA NA 0.6453861 FALSE NA ENSE00002359554_000 ENSE00002359554 000 17 41209031 41209200 - 38 84 48 NA NA NA NA NA GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 NA NA NA NA NA NA AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC natural NA NA NA NA NA 2512 1249 0.9926453 0.9471641 0.9699047 NA NA 0.9926453 0.9471641 NA NA 0 0 NA 0.9699047 NA 0 NA FALSE NA NA NA NA NA NA BRCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRCA1 NA NA NA ENSG00000012048 ENSE00003458468 NA NA NA NA NA NA NA 3.287422e-20 FALSE NA ENSE00002359554_001 ENSE00002359554 001 17 41209031 41209200 - 38 84 48 T C 41209043 2073 158 GGGTGAGATTTTCGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057025 43057026 43057026 downstr_intron 26 1.702703 AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACGAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 199 164 1 1 1 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.05283593 NA 0.9699047 NA 0.03009534 NA FALSE NA 0.001 1.442 . intron_variant MODIFIER BRCA1 HGNC 1100 ENST00000352993 18/21 1 NA TTG T,C 8.236e-06 17:43057026 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 intron_variant 0.832418 0.39152 0.31587 0.295142 0.7803616 0.492375 3.287422e-20 FALSE 4.06055e-06 ENSE00002359554_003 ENSE00002359554 003 17 41209031 41209200 - 38 84 48 G C 41209052 2075 149 GGGTGAGATTTTTGTCAACTTCAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057034 43057035 43057035 downstr_intron 17 1.459459 AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTGAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 364 778 1 0.9985189 0.9992594 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.0513548 NA 0.9699047 NA 0.02935478 NA FALSE NA 0 -1.099 . intron_variant MODIFIER BRCA1 HGNC 1100 ENST00000352993 18/21 1 NA TGA G,C 8.236e-06 17:43057035 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 intron_variant 0.400343 0.17114 0.0845 0.295142 0.5374992 0.0455939 3.287422e-20 FALSE 4.06055e-06 ENSE00002359554_004 ENSE00002359554 004 17 41209031 41209200 - 38 84 48 G A 41209054 2076 147 GGGTGAGATTTTTGTCAACTTGAAGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057036 43057037 43057037 downstr_intron 15 1.405405 AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCTTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 23 45 1 1 1 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.05283593 NA 0.9699047 NA 0.03009534 NA FALSE NA 0 -0.162 . intron_variant MODIFIER BRCA1 HGNC 1100 ENST00000352993 18/21 rs535279193 1 NA AGG G,A 8.236e-06 17:43057037 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 intron_variant 0.720563 0.12738 0.02127 0.295142 0.5706262 0.0455939 3.287422e-20 FALSE 4.06055e-06 ENSE00002359554_006 ENSE00002359554 006 17 41209031 41209200 - 38 84 48 C T 41209069 2078 132 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACTTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057051 43057052 43057052 exon -1 1 AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAAGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 23 23 0.8 1 0.9 NA NA 0.9926453 0.9471641 NA NA -0.1926453 0.05283593 NA 0.9699047 NA -0.06990466 NA FALSE NA 1 2.166 rs80356854 splice_region_variant&synonymous_variant LOW BRCA1 HGNC 1100 ENST00000352993 18/22 rs80356854 1 NA CCT C,T 8.236e-06 17:43057052 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 splice_region_variant 1.712444 0.98062 0.9372 0.732398 0.8876498 0 3.287422e-20 FALSE 8.1211e-06 ENSE00002359554_007 ENSE00002359554 007 17 41209031 41209200 - 38 84 48 T C 41209072 2079 129 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTCCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057054 43057055 43057055 exon -4 0.9642857 AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGGAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 91 299 1 1 1 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.05283593 NA 0.9699047 NA 0.03009534 NA FALSE NA 0.001 0.044 . synonymous_variant LOW BRCA1 HGNC 1100 ENST00000352993 18/22 rs80357732 1 NA TTC T,C 8.236e-06 17:43057055 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 synonymous_variant -0.022143 0.94465 0.13115 0.732398 0.5588912 0 3.287422e-20 FALSE 1.62422e-05 ENSE00002359554_008 ENSE00002359554 008 17 41209031 41209200 - 38 84 48 C G 41209086 2080 115 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTGTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057068 43057069 43057069 exon -18 0.797619 AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGACAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 352 136 0.9922818 1 0.9961409 NA NA 0.9926453 0.9471641 NA NA -0.0003634922 0.05283593 NA 0.9699047 NA 0.02623622 NA FALSE NA 1 1.53 . missense_variant MODERATE BRCA1 HGNC 1100 ENST00000352993 18/22 rs80357432&CM030007 1 tolerated(0.37) possibly_damaging(0.889) NA TCT C,G 3.295e-05 17:43057069 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 missense_variant 5.101921 0.98158 0.85311 0.732398 0.9960116 0 3.287422e-20 FALSE 3.65453e-05 ENSE00002359554_009 ENSE00002359554 009 17 41209031 41209200 - 38 84 48 T C 41209087 2081 114 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCCCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057069 43057070 43057070 exon -19 0.7857143 AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGGGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 163 354 1 1 1 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.05283593 NA 0.9699047 NA 0.03009534 NA FALSE NA 1 0.816 . synonymous_variant LOW BRCA1 HGNC 1100 ENST00000352993 18/22 rs80357925 1 NA CTC T,C 8.236e-06 17:43057070 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 synonymous_variant 0.3351 0.95579 0.67581 0.732398 0.6742116 0 3.287422e-20 FALSE 4.06055e-06 ENSE00002359554_012 ENSE00002359554 012 17 41209031 41209200 - 38 84 48 T A 41209148 2084 53 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAAACATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057130 43057131 43057131 exon 5 0.05952381 AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGTTTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 30 217 1 1 1 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.05283593 NA 0.9699047 NA 0.03009534 NA FALSE NA 0.209 1.188 NA NA NA BRCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:43057131 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 missense_variant 4.792236 0.96817 0.58566 0.732398 0.992046 0 3.287422e-20 FALSE 5.68505e-05 ENSE00002359554_017 ENSE00002359554 017 17 41209031 41209200 - 38 84 48 C T 41209178 2089 23 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATTAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 43057160 43057161 43057161 upstr_intron -26 -0.5208333 AAGCTTCTCTTTCTCTTATCCTAATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 361 613 0.9954674 1 0.9977337 NA NA 0.9926453 0.9471641 NA NA 0.00282219 0.05283593 NA 0.9699047 NA 0.02782906 NA FALSE NA 0 -0.098 . intron_variant MODIFIER BRCA1 HGNC 1100 ENST00000352993 17/21 1 NA TCA C,T 8.236e-06 17:43057161 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 intron_variant 1.004912 0.21614 0.02021 0.106106 0.7950298 0.119757 3.287422e-20 FALSE 4.06138e-06 ENSE00002359554_018 ENSE00002359554 018 17 41209031 41209200 - 38 84 48 A G 41209182 2090 19 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGGTAAGAGAAAGAGAAGCTT 43057013 43057183 43057164 43057165 43057165 upstr_intron -30 -0.6041667 AAGCTTCTCTTTCTCTTACCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 629 99 0.9976873 1 0.9988437 NA NA 0.9926453 0.9471641 NA NA 0.005042052 0.05283593 NA 0.9699047 NA 0.02893899 NA FALSE NA 0 -1.086 . intron_variant MODIFIER BRCA1 HGNC 1100 ENST00000352993 17/21 1 NA GAT A,G 1.647e-05 17:43057165 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 intron_variant 0.851704 0.14483 0.00317 0.106106 0.7106617 0.119757 3.287422e-20 FALSE 8.12262e-06 ENSE00002359554_019 ENSE00002359554 019 17 41209031 41209200 - 38 84 48 A C 41209184 2091 17 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATCAGAGAAAGAGAAGCTT 43057013 43057183 43057166 43057167 43057167 upstr_intron -32 -0.6458333 AAGCTTCTCTTTCTCTGATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 247 60 1 1 1 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.05283593 NA 0.9699047 NA 0.03009534 NA FALSE NA 0.114 0.901 . intron_variant MODIFIER BRCA1 HGNC 1100 ENST00000352993 17/21 1 NA TAA C,C 8.236e-06 17:43057167 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 intron_variant 0.723841 0.51777 0.00467 0.106106 0.738913 0.152126 3.287422e-20 FALSE 4.06161e-06 ENSE00002359554_020 ENSE00002359554 020 17 41209031 41209200 - 38 84 48 G A 41209186 2092 15 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAAAGAAAGAGAAGCTT 43057013 43057183 43057168 43057169 43057169 upstr_intron -34 -0.6875 AAGCTTCTCTTTCTTTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 24 126 1 1 1 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.05283593 NA 0.9699047 NA 0.03009534 NA FALSE NA 0.12 1.298 . intron_variant MODIFIER BRCA1 HGNC 1100 ENST00000352993 17/21 1 NA AGA G,A 2.471e-05 17:43057169 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 intron_variant 1.273282 0.93227 0.5402 0.106106 0.6935101 0.721495 3.287422e-20 FALSE 2.4371e-05 ENSE00002359554_021 ENSE00002359554 021 17 41209031 41209200 - 38 84 48 G C 41209188 2093 13 GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTACCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGCTGAAAGAAACCAAACACAACCCATCAGGATAAGACAAAGAGAAGCTT 43057013 43057183 43057170 43057171 43057171 upstr_intron -36 -0.7291667 AAGCTTCTCTTTGTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC mutant NA NA NA NA NA 38 1425 1 0.9993565 0.9996782 NA NA 0.9926453 0.9471641 NA NA 0.007354748 0.05219238 NA 0.9699047 NA 0.02977357 NA FALSE NA 0.99 1.095 . intron_variant MODIFIER BRCA1 HGNC 1100 ENST00000352993 17/21 1 NA AGA G,C 8.236e-06 17:43057171 BRCA1 HGNC Symbol protein_coding 125950 ENSG00000012048 ENSE00003458468 intron_variant 0.772518 0.92407 0.6602 0.106106 0.6877973 0.23029 3.287422e-20 FALSE 4.0619e-06 ENSE00002359554_BRK ENSE00002359554 BRK 17 41209031 41209200 - 38 84 48 A,G; T,T NA NA NA GGGTGAGATTTTTGTCAACTTGAGGGAGGGAGCTTTGGCTTTCTGTCCTGGGATTCTCTTGCTCGCTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTGACTTCAAAATCATGAAGAAAGAAACCAAACACAACCCATCAGGATAAGAGAAAGAGAAGCTT 43057013 43057183 NA NA NA NA NA NA AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCTTCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGCCAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC AAGCTTCTCTTTCTCTTATCCTGATGGGTTGTGTTTGGTTTCTTTCAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTAAAGCTCCCTCCCTCAAGTTGACAAAAATCTCACCC control NA NA NA NA NA 31 1876 0 0.0001704696 8.52348e-05 NA NA 0.9926453 0.9471641 NA NA -0.9926453 -0.9469936 NA 0.9699047 NA -0.9698194 NA TRUE NA NA NA NA NA NA BRCA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BRCA1 NA NA NA ENSG00000012048 ENSE00003458468 NA NA NA NA NA NA NA 3.287422e-20 FALSE NA ENSE00002360427_000 ENSE00002360427 000 1 41218781 41218950 + 42 96 32 NA NA NA NA NA TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTGAAACCTCCAAAGCGTCAGGTGAGCTGTGAAGGGATTGCAGTTGCTGCTGA 40753108 40753278 NA NA NA NA NA NA TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTGAAACCTCCAAAGCGTCAGGTGAGCTGTGAAGGGATTGCAGTTGCTGCTGA TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTGAAACCTCCAAAGCGTCAGGTGAGCTGTGAAGGGATTGCAGTTGCTGCTGA natural NA NA NA NA NA 814 1116 0.8518376 0.9747787 0.9133081 NA NA 0.8518376 0.9747787 NA NA 0 0 NA 0.9133081 NA 0 NA FALSE NA NA NA NA NA NA NFYC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NFYC NA NA NA ENSG00000066136 ENSE00003785577 NA NA NA NA NA NA NA 0.6319594 FALSE NA ENSE00002360427_014 ENSE00002360427 014 1 41218781 41218950 + 42 96 32 G C 41218900 1557 120 TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTCAAACCTCCAAAGCGTCAGGTGAGCTGTGAAGGGATTGCAGTTGCTGCTGA 40753108 40753278 40753227 40753228 40753228 exon -19 0.8125 TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTCAAACCTCCAAAGCGTCAGGTGAGCTGTGAAGGGATTGCAGTTGCTGCTGA TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTGAAACCTCCAAAGCGTCAGGTGAGCTGTGAAGGGATTGCAGTTGCTGCTGA mutant NA NA NA NA NA 223 252 1 0.968316 0.984158 NA NA 0.8518376 0.9747787 NA NA 0.1481624 -0.006462637 NA 0.9133081 NA 0.07084989 NA FALSE NA 1 0.965 . upstream_gene_variant MODIFIER NFYC HGNC 7806 ENST00000525349 1 NA TGA G,C 8.237e-06 1:40753228 NFYC HGNC Symbol protein_coding 79955 ENSG00000066136 ENSE00003785577 synonymous_variant 0.422049 0.95216 0.81537 0.730579 0.752767 0 0.6319594 FALSE 4.06309e-06 ENSE00002360427_018 ENSE00002360427 018 1 41218781 41218950 + 42 96 32 G C 41218923 1561 143 TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTGAAACCTCCAAAGCGTCAGGTGACCTGTGAAGGGATTGCAGTTGCTGCTGA 40753108 40753278 40753250 40753251 40753251 downstr_intron 5 1.16129 TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTGAAACCTCCAAAGCGTCAGGTGACCTGTGAAGGGATTGCAGTTGCTGCTGA TCTCCCCAGGCTAATTTTTCACACCGCTCTTCTTTGTTACAGAGAAATGATATCGCCATGGCAATTACAAAATTTGATCAGTTTGATTTTCTCATCGATATTGTTCCAAGAGATGAACTGAAACCTCCAAAGCGTCAGGTGAGCTGTGAAGGGATTGCAGTTGCTGCTGA mutant NA NA NA NA NA 15 57 1 0.9993295 0.9996648 NA NA 0.8518376 0.9747787 NA NA 0.1481624 0.02455085 NA 0.9133081 NA 0.08635663 NA FALSE NA 1 8.395 . upstream_gene_variant MODIFIER NFYC HGNC 7806 ENST00000525349 1 NA AGC G,C 8.237e-06 1:40753251 NFYC HGNC Symbol protein_coding 79955 ENSG00000066136 ENSE00003785577 splice_region_variant 1.582883 0.98634 0.99008 0.279481 0.9664101 0.990562 0.6319594 FALSE 1.21964e-05 ENSE00002360468_000 ENSE00002360468 000 3 107474395 107474564 + 50 81 39 NA NA NA NA NA GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 NA NA NA NA NA NA GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG natural 33 44 0.9974504 0.9979095 0.9976799 4676 3577 0.980343 0.879789 0.930066 0.9974504 0.9979095 0.980343 0.879789 0 0 0 0 0.9976799 0.930066 0 0 0 FALSE FALSE NA NA NA NA NA BBX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BBX NA NA NA ENSG00000114439 ENSE00003646424 NA NA NA NA NA NA NA 0.9580978 TRUE NA ENSE00002360468_002 ENSE00002360468 002 3 107474395 107474564 + 50 81 39 A G 107474423 2219 29 GATTCTGGTATCACAACTAATATTCCCTGTTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755575 107755576 107755576 upstr_intron -22 -0.42 GATTCTGGTATCACAACTAATATTCCCTGTTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 516 1038 0.9943335 0.9990039 0.9966687 0.9974504 0.9979095 0.980343 0.879789 NA NA 0.01399049 0.1192149 0.9976799 0.930066 NA 0.06660269 NA FALSE NA 0.043 0.187 . intron_variant MODIFIER BBX HGNC 14422 ENST00000416476 9/16 1 NA TAT A,G 8.236e-06 3:107755576 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 intron_variant 0.315661 0.16829 0.05717 0.162113 0.4639085 0.0813483 0.9580978 TRUE 4.06868e-06 ENSE00002360468_003 ENSE00002360468 003 3 107474395 107474564 + 50 81 39 G A 107474432 2220 38 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTATCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755584 107755585 107755585 upstr_intron -13 -0.24 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTATCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 213 195 0.9671456 0.950839 0.9589923 0.9974504 0.9979095 0.980343 0.879789 NA NA -0.01319735 0.07105 0.9976799 0.930066 NA 0.02892633 NA FALSE NA 0.998 0.685 . intron_variant MODIFIER BBX HGNC 14422 ENST00000416476 9/16 1 NA TGT G,A 8.236e-06 3:107755585 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 intron_variant 2.074559 0.96355 0.77393 0.162113 0.7933563 0.342064 0.9580978 TRUE 8.13279e-06 ENSE00002360468_007 ENSE00002360468 007 3 107474395 107474564 + 50 81 39 C T 107474461 2224 67 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTTGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755613 107755614 107755614 exon 17 0.2098765 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTTGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 525 163 0.8361373 0.8709271 0.8535322 0.9974504 0.9979095 0.980343 0.879789 NA NA -0.1442057 -0.008861891 0.9976799 0.930066 NA -0.0765338 NA FALSE NA 0.976 4.537 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 10/17 COSM279135 1 deleterious_low_confidence(0.02) probably_damaging(0.999) NA TCG C,T 8.236e-06 3:107755614 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 missense_variant 7.647488 0.98451 0.88803 0.706298 0.9991531 0 0.9580978 TRUE 4.06392e-06 ENSE00002360468_009 ENSE00002360468 009 3 107474395 107474564 + 50 81 39 G T 107474465 2226 71 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCATTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755617 107755618 107755618 exon 21 0.2592593 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCATTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 399 1308 1 0.9981386 0.9990693 0.9974504 0.9979095 0.980343 0.879789 NA NA 0.01965703 0.1183496 0.9976799 0.930066 NA 0.06900334 NA FALSE NA 0.899 1.221 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 10/17 1 tolerated_low_confidence(0.45) benign(0.288) NA AGT G,T 8.236e-06 3:107755618 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 missense_variant 2.042811 0.95201 0.69955 0.706298 0.9920939 0 0.9580978 TRUE 8.12691e-06 ENSE00002360468_010 ENSE00002360468 010 3 107474395 107474564 + 50 81 39 T C 107474466 2227 72 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGCTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755618 107755619 107755619 exon 22 0.2716049 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGCTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 649 31 0.8917447 1 0.9458724 0.9974504 0.9979095 0.980343 0.879789 NA NA -0.08859823 0.120211 0.9976799 0.930066 NA 0.01580638 NA FALSE NA 0.335 -0.675 . synonymous_variant LOW BBX HGNC 14422 ENST00000416476 10/17 1 NA GTT T,C 8.236e-06 3:107755619 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 synonymous_variant 0.237956 0.95154 0.27442 0.706298 0.7742633 0 0.9580978 TRUE 8.12704e-06 ENSE00002360468_011 ENSE00002360468 011 3 107474395 107474564 + 50 81 39 C T 107474490 2228 96 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAATGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755642 107755643 107755643 exon -36 0.5679012 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAATGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 393 1465 0.987997 0.9722044 0.9801007 0.9974504 0.9979095 0.980343 0.879789 NA NA 0.007653997 0.09241536 0.9976799 0.930066 NA 0.05003468 NA FALSE NA 1 2.88 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 10/17 COSM4112029&COSM4112028 1 deleterious_low_confidence(0.02) benign(0.054) NA ACG C,T 2.471e-05 3:107755643 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 missense_variant 6.72023 0.98465 0.83222 0.706298 0.9974892 0 0.9580978 TRUE 2.43819e-05 ENSE00002360468_012 ENSE00002360468 012 3 107474395 107474564 + 50 81 39 G A 107474494 2229 100 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTATGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755646 107755647 107755647 exon -32 0.617284 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTATGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 401 338 0.95 0.9632592 0.9566296 0.9974504 0.9979095 0.980343 0.879789 NA NA -0.03034297 0.08347018 0.9976799 0.930066 NA 0.02656361 NA FALSE NA 1 1.729 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 10/17 1 deleterious_low_confidence(0.04) benign(0.268) NA TGT G,A 8.236e-06 3:107755647 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 missense_variant 3.724352 0.97486 0.75394 0.706298 0.9907605 0 0.9580978 TRUE 1.21901e-05 ENSE00002360468_013 ENSE00002360468 013 3 107474395 107474564 + 50 81 39 A G 107474500 2230 106 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAGGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755652 107755653 107755653 exon -26 0.691358 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAGGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 416 238 0.9890188 0.945652 0.9673354 0.9974504 0.9979095 0.980343 0.879789 NA NA 0.008675787 0.065863 0.9976799 0.930066 NA 0.03726939 NA FALSE NA 1 5.416 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 10/17 1 deleterious_low_confidence(0.01) possibly_damaging(0.872) NA AAG A,G 8.236e-06 3:107755653 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 missense_variant 4.115242 0.98257 0.92277 0.706298 0.9990039 0 0.9580978 TRUE 4.06372e-06 ENSE00002360468_014 ENSE00002360468 014 3 107474395 107474564 + 50 81 39 G A 107474505 2231 111 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTACACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755657 107755658 107755658 exon -21 0.7530864 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTACACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 334 242 0.9977608 0.9998426 0.9988017 0.9974504 0.9979095 0.980343 0.879789 NA NA 0.01741784 0.1200536 0.9976799 0.930066 NA 0.06873571 NA FALSE NA 1 5.719 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 10/17 COSM1536051&COSM1536050 1 deleterious_low_confidence(0.01) probably_damaging(0.978) NA TGC G,A 8.236e-06 3:107755658 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 missense_variant 6.659765 0.9851 0.92699 0.706298 0.9992259 0 0.9580978 TRUE NA ENSE00002360468_015 ENSE00002360468 015 3 107474395 107474564 + 50 81 39 A G 107474516 2232 122 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAGCTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755668 107755669 107755669 exon -10 0.8888889 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAGCTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 2422 921 0.984799 0.9914638 0.9881314 0.9974504 0.9979095 0.980343 0.879789 NA NA 0.004456062 0.1116748 0.9976799 0.930066 NA 0.05806545 NA FALSE NA 0.991 0.007 . synonymous_variant LOW BBX HGNC 14422 ENST00000416476 10/17 1 NA AAC A,G 8.236e-06 3:107755669 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 synonymous_variant 0.446602 0.95944 0.29733 0.706298 0.566333 0 0.9580978 TRUE 4.06431e-06 ENSE00002360468_017 ENSE00002360468 017 3 107474395 107474564 + 50 81 39 G A 107474526 2234 132 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGACAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755678 107755679 107755679 downstr_intron 1 1.026316 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGACAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 60 252 0.02509597 0.00402666 0.01456131 0.9974504 0.9979095 0.980343 0.879789 NA NA -0.955247 -0.8757623 0.9976799 0.930066 NA -0.9155047 NA TRUE NA 1 5.719 . splice_donor_variant HIGH BBX HGNC 14422 ENST00000416476 10/16 rs376143920 1 NA A:0 A:0.0001 LC GGC G,A 8.236e-06 3:107755679 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 splice_donor_variant 5.498435 0.9851 0.92699 0.262962 0.9950509 0.974064 0.9580978 TRUE 4.06517e-06 ENSE00002360468_018 ENSE00002360468 018 3 107474395 107474564 + 50 81 39 C G 107474534 2235 140 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCGTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 107755686 107755687 107755687 downstr_intron 9 1.236842 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCGTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 389 620 0.9948386 1 0.9974193 0.9974504 0.9979095 0.980343 0.879789 NA NA 0.01449566 0.120211 0.9976799 0.930066 NA 0.06735332 NA FALSE NA 0 0.225 . intron_variant MODIFIER BBX HGNC 14422 ENST00000416476 10/16 rs373312172 1 NA G:0.0002 G:0 CCT C,G 8.236e-06 3:107755687 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 intron_variant 1.962277 0.33144 0.14115 0.078448 0.7550967 0.211371 0.9580978 TRUE 8.13253e-06 ENSE00002360468_019 ENSE00002360468 019 3 107474395 107474564 + 50 81 39 A T 107474542 2236 148 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATTTATTGAGATAAGATCTGCAGAG 107755547 107755717 107755694 107755695 107755695 downstr_intron 17 1.447368 GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATTTATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG mutant NA NA NA NA NA 129 2358 0.9829366 0.9999839 0.9914602 0.9974504 0.9979095 0.980343 0.879789 NA NA 0.002593624 0.1201949 0.9976799 0.930066 NA 0.06139424 NA FALSE NA 0 -0.469 . intron_variant MODIFIER BBX HGNC 14422 ENST00000416476 10/16 1 NA TAT A,T 1.647e-05 3:107755695 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003646424 intron_variant 1.114469 0.1589 0.03012 0.078448 0.829755 0.129676 0.9580978 TRUE 1.62782e-05 ENSE00002360468_BRK ENSE00002360468 BRK 3 107474395 107474564 + 50 81 39 A,G; T,T NA NA NA GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATTTATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGCCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG 107755547 107755717 NA NA NA NA NA NA GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATTTATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGCCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG GATTCTGGTATCACAACTAATATTCCCTATTTGGATTGTCTTTAATATAGATTTCTTCAAACACTTCGCAGTTGGGTGGTGCTGAGCCTGTAAAACGCTGTGGAAAGTCTGCACTCTTTCAACTGGCAGAGGCAAGTTCCTAAGAATATATTGAGATAAGATCTGCAGAG control NA NA NA NA NA 92 921 0 0.0003473476 0.0001736738 0.9974504 0.9979095 0.980343 0.879789 NA NA -0.980343 -0.8794417 0.9976799 0.930066 NA -0.9298923 NA TRUE NA NA NA NA NA NA BBX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BBX NA NA NA ENSG00000114439 ENSE00003646424 NA NA NA NA NA NA NA 0.9580978 TRUE NA ENSE00002360614_000 ENSE00002360614 000 12 109962186 109962355 + 57 66 47 NA NA NA NA NA CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 NA NA NA NA NA NA CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC natural 15 19 1 0.9997197 0.9998598 1609 1817 0.9865624 0.9897523 0.9881574 1 0.9997197 0.9865624 0.9897523 0 0 0 0 0.9998598 0.9881574 0 0 0 FALSE FALSE NA NA NA NA NA UBE3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UBE3B NA NA NA ENSG00000151148 ENSE00003659643 NA NA NA NA NA NA NA 0.009387706 FALSE NA ENSE00002360614_001 ENSE00002360614 001 12 109962186 109962355 + 57 66 47 A G 109962197 3155 12 CTCTTAAGCACGTAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524391 109524392 109524392 upstr_intron -46 -0.7894737 CTCTTAAGCACGTAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 224 257 0.9845202 1 0.9922601 1 0.9997197 0.9865624 0.9897523 NA NA -0.002042251 0.0102477 0.9998598 0.9881574 NA 0.004102727 NA FALSE NA 0 -1.354 . intron_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 3/8 1 NA CAT A,G 1.647e-05 12:109524392 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 intron_variant -0.17852 0.09976 0.03331 0.099367 0.3680288 0.0717857 0.009387706 FALSE 8.13412e-06 ENSE00002360614_002 ENSE00002360614 002 12 109962186 109962355 + 57 66 47 G A 109962202 3156 17 CTCTTAAGCACATAGTACTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524396 109524397 109524397 upstr_intron -41 -0.7017544 CTCTTAAGCACATAGTACTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 278 565 0.9971529 1 0.9985765 1 0.9997197 0.9865624 0.9897523 NA NA 0.01059052 0.0102477 0.9998598 0.9881574 NA 0.01041911 NA FALSE NA 0 -3.266 . intron_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 3/8 rs569538291 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGC G,A 8.236e-06 12:109524397 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 intron_variant -0.300603 0.07472 0.01425 0.099367 0.4795305 0.0717857 0.009387706 FALSE 8.13061e-06 ENSE00002360614_007 ENSE00002360614 007 12 109962186 109962355 + 57 66 47 G A 109962244 3161 59 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCACTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524438 109524439 109524439 exon 2 0.03030303 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCACTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 1236 46 0.9792513 0.9838661 0.9815587 1 0.9997197 0.9865624 0.9897523 NA NA -0.007311108 -0.005886209 0.9998598 0.9881574 NA -0.006598659 NA FALSE NA 1 9.177 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW UBE3B HGNC 13478 ENST00000538070 4/9 1 NA CGC G,A 8.236e-06 12:109524439 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 missense_variant 1.644226 0.99362 0.99352 0.706548 0.1912317 0 0.009387706 FALSE 2.03056e-05 ENSE00002360614_011 ENSE00002360614 011 12 109962186 109962355 + 57 66 47 A G 109962256 3165 71 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGGCATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524450 109524451 109524451 exon 14 0.2121212 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGGCATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 158 847 0.9352029 0.8102549 0.8727289 1 0.9997197 0.9865624 0.9897523 NA NA -0.05135951 -0.1794974 0.9998598 0.9881574 NA -0.1154285 NA FALSE NA 1 8.687 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 4/9 COSM4038567 1 NA GAC A,G 8.236e-06 12:109524451 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 missense_variant 5.768972 0.99174 0.99322 0.706548 0.9971044 0 0.009387706 FALSE 8.12183e-06 ENSE00002360614_012 ENSE00002360614 012 12 109962186 109962355 + 57 66 47 A T 109962265 3166 80 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGTCCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524459 109524460 109524460 exon 23 0.3484848 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGTCCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 225 236 0.9547892 0.8609784 0.9078838 1 0.9997197 0.9865624 0.9897523 NA NA -0.03177324 -0.1287739 0.9998598 0.9881574 NA -0.08027356 NA FALSE NA 1 8.687 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 4/9 1 NA GAC A,T 8.236e-06 12:109524460 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 missense_variant 5.480119 0.99175 0.99328 0.706548 0.994223 0 0.009387706 FALSE 4.06088e-06 ENSE00002360614_013 ENSE00002360614 013 12 109962186 109962355 + 57 66 47 C T 109962272 3167 87 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGTCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524466 109524467 109524467 exon 30 0.4545455 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGTCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 68 28 1 0.9986291 0.9993146 1 0.9997197 0.9865624 0.9897523 NA NA 0.01343758 0.008876844 0.9998598 0.9881574 NA 0.01115721 NA FALSE NA 0.949 0.049 rs192120537 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 4/9 rs192120537 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCC C,T 1.647e-05 12:109524467 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 synonymous_variant 1.269258 0.96644 0.77605 0.706548 0.4562846 0 0.009387706 FALSE 2.43655e-05 ENSE00002360614_014 ENSE00002360614 014 12 109962186 109962355 + 57 66 47 C T 109962277 3168 92 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGATGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524471 109524472 109524472 exon -32 0.530303 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGATGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 699 296 0.9949774 0.9998713 0.9974244 1 0.9997197 0.9865624 0.9897523 NA NA 0.008414972 0.01011903 0.9998598 0.9881574 NA 0.009267001 NA FALSE NA 1 7.276 rs184291791 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 4/9 rs184291791 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0001 ACG C,T 9.06e-05 12:109524472 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 missense_variant 5.909521 0.98941 0.98624 0.706548 0.9974037 0 0.009387706 FALSE 8.52847e-05 ENSE00002360614_017 ENSE00002360614 017 12 109962186 109962355 + 57 66 47 G A 109962288 3171 103 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACAACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524482 109524483 109524483 exon -21 0.6969697 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACAACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 66 792 1 0.9981037 0.9990518 1 0.9997197 0.9865624 0.9897523 NA NA 0.01343758 0.008351398 0.9998598 0.9881574 NA 0.01089449 NA FALSE NA 1 9.177 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 4/9 1 NA CGA G,A 2.471e-05 12:109524483 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 missense_variant 5.969106 0.99394 0.99359 0.706548 0.9870552 0 0.009387706 FALSE 2.84296e-05 ENSE00002360614_019 ENSE00002360614 019 12 109962186 109962355 + 57 66 47 G A 109962291 3173 106 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACAAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524485 109524486 109524486 exon -18 0.7424242 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACAAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 425 123 0.7956115 0.8 0.7978057 1 0.9997197 0.9865624 0.9897523 NA NA -0.1909509 -0.1897523 0.9998598 0.9881574 NA -0.1903516 NA FALSE NA 1 9.177 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 4/9 COSM691316 1 NA CGA G,A 8.236e-06 12:109524486 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 missense_variant 7.29986 0.99394 0.99359 0.706548 0.9990754 0 0.009387706 FALSE NA ENSE00002360614_024 ENSE00002360614 024 12 109962186 109962355 + 57 66 47 G A 109962317 3178 132 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCACCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC 109524380 109524550 109524511 109524512 109524512 downstr_intron 9 1.195652 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCACCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 310 787 0.9963596 0.9004195 0.9483895 1 0.9997197 0.9865624 0.9897523 NA NA 0.009797162 -0.08933283 0.9998598 0.9881574 NA -0.03976783 NA FALSE NA 0 -1.324 . intron_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 4/8 rs370136647 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0002 A:0 CGC G,A 1.647e-05 12:109524512 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 intron_variant -0.166735 0.14619 0.02594 0.099367 0.7376729 0.046323 0.009387706 FALSE 2.03368e-05 ENSE00002360614_026 ENSE00002360614 026 12 109962186 109962355 + 57 66 47 C T 109962339 3180 154 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTTCACTGCCCCCATGGGC 109524380 109524550 109524533 109524534 109524534 downstr_intron 31 1.673913 CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTTCACTGCCCCCATGGGC CTCTTAAGCACATAGTGCTCCATGGCCCTAACACTTTCCCCTTCTCTGTTACATTAGCGCTATGATGGGGACATCACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAGGTAGGTCCGCCCTTTGGCTGAGCTCCCTTTCCACTGCCCCCATGGGC mutant NA NA NA NA NA 151 273 1 1 1 1 0.9997197 0.9865624 0.9897523 NA NA 0.01343758 0.0102477 0.9998598 0.9881574 NA 0.01184264 NA FALSE NA 0 -2.764 . intron_variant&non_coding_transcript_variant MODIFIER UBE3B HGNC 13478 ENST00000538070 4/8 1 NA TCC C,T 1.647e-05 12:109524534 UBE3B HGNC Symbol protein_coding 59303 ENSG00000151148 ENSE00003659643 intron_variant 0.150226 0.10657 0.00931 0.099367 0.657369 0.046323 0.009387706 FALSE 8.16567e-06 ENSE00002360769_000 ENSE00002360769 000 11 118360465 118360634 + 42 96 32 NA NA NA NA NA CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 NA NA NA NA NA NA GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG natural 19 16 0.9990524 0.993745 0.9963987 2366 645 0.9025081 0.9591633 0.9308357 0.9990524 0.993745 0.9025081 0.9591633 0 0 0 0 0.9963987 0.9308357 0 0 0 FALSE FALSE NA NA NA NA NA KMT2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KMT2A NA NA NA ENSG00000118058 ENSE00002494273 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002360769_001 ENSE00002360769 001 11 118360465 118360634 + 42 96 32 G A 118360487 2768 23 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGGTAAAAAGATAAGCATCATATTAC 118489749 118489919 118489771 118489772 118489772 upstr_intron -20 -0.452381 GTAATATGATGCTTATCTTTTTACCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 129 510 0.9889733 0.9996898 0.9943316 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.08646522 0.04052651 0.9963987 0.9308357 NA 0.06349586 NA FALSE NA 0 0.59 . intron_variant MODIFIER KMT2A HGNC 7132 ENST00000389506 11/35 1 NA TGC G,A 8.236e-06 11:118489772 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 intron_variant 0.181242 0.37306 0.34961 0.156188 0.475993 0.0526402 1 TRUE 4.0705e-06 ENSE00002360769_002 ENSE00002360769 002 11 118360465 118360634 + 42 96 32 C T 118360488 2769 24 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGACAAAAAGATAAGCATCATATTAC 118489749 118489919 118489772 118489773 118489773 upstr_intron -19 -0.4285714 GTAATATGATGCTTATCTTTTTGTCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 134 165 1 1 1 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.09749189 0.04083674 0.9963987 0.9308357 NA 0.06916431 NA FALSE NA 0 -0.172 . intron_variant MODIFIER KMT2A HGNC 7132 ENST00000389506 11/35 1 NA GCC C,T 8.236e-06 11:118489773 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 intron_variant 0.236142 0.33457 0.03081 0.156188 0.4588951 0.0526402 1 TRUE 4.0665e-06 ENSE00002360769_005 ENSE00002360769 005 11 118360465 118360634 + 42 96 32 A T 118360508 2772 44 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCAGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 118489792 118489793 118489793 exon 2 0.02083333 GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCTGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 188 49 1 1 1 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.09749189 0.04083674 0.9963987 0.9308357 NA 0.06916431 NA FALSE NA 1 8.838 . missense_variant&splice_region_variant MODERATE KMT2A HGNC 7132 ENST00000389506 12/36 1 probably_damaging(0.914) NA CAG A,T 1.647e-05 11:118489793 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 missense_variant 6.108219 0.99424 0.99883 0.706548 0.9933475 0 1 TRUE 8.12315e-06 ENSE00002360769_006 ENSE00002360769 006 11 118360465 118360634 + 42 96 32 A C 118360522 2773 58 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATGACACTCCAGCAGCTGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 118489806 118489807 118489807 exon 16 0.1666667 GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTCATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 156 21 0.9990162 1 0.9995081 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.09650812 0.04083674 0.9963987 0.9308357 NA 0.06867243 NA FALSE NA 1 6.845 . missense_variant MODERATE KMT2A HGNC 7132 ENST00000389506 12/36 1 possibly_damaging(0.72) NA TAA A,C 8.236e-06 11:118489807 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 missense_variant 5.674975 0.99051 0.99548 0.706548 0.9844839 0 1 TRUE 4.06095e-06 ENSE00002360769_007 ENSE00002360769 007 11 118360465 118360634 + 42 96 32 C G 118360531 2774 67 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCCGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 118489815 118489816 118489816 exon 25 0.2604167 GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCGGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 323 1572 0.9677104 0.9998752 0.9837928 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.06520226 0.04071189 0.9963987 0.9308357 NA 0.05295708 NA FALSE NA 1 7.487 rs150800017 missense_variant MODERATE KMT2A HGNC 7132 ENST00000389506 12/36 1 possibly_damaging(0.827) NA CCG C,G 8.236e-06 11:118489816 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 missense_variant 6.890352 0.99188 0.99161 0.706548 0.9979385 0 1 TRUE 8.12203e-06 ENSE00002360769_008 ENSE00002360769 008 11 118360465 118360634 + 42 96 32 G A 118360532 2775 68 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTTGGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 118489816 118489817 118489817 exon 26 0.2708333 GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCAAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 319 380 0.9760277 0.9995836 0.9878056 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.0735196 0.04042032 0.9963987 0.9308357 NA 0.05696996 NA FALSE NA 1 7.644 . missense_variant MODERATE KMT2A HGNC 7132 ENST00000389506 12/36 1 possibly_damaging(0.452) NA CGA G,A 3.295e-05 11:118489817 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 missense_variant 6.304076 0.99559 0.99332 0.706548 0.9991313 0 1 TRUE 2.43653e-05 ENSE00002360769_010 ENSE00002360769 010 11 118360465 118360634 + 42 96 32 A G 118360565 2777 101 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGCTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 118489849 118489850 118489850 exon -38 0.6145833 GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAGCTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 39 113 1 0.9709287 0.9854643 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.09749189 0.0117654 0.9963987 0.9308357 NA 0.05462864 NA FALSE NA 1 5.94 . missense_variant MODERATE KMT2A HGNC 7132 ENST00000389506 12/36 1 benign(0.359) NA AAC A,G 8.236e-06 11:118489850 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 missense_variant 3.665175 0.98995 0.9823 0.706548 0.9967407 0 1 TRUE 1.2182e-05 ENSE00002360769_011 ENSE00002360769 011 11 118360465 118360634 + 42 96 32 C G 118360574 2778 110 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGCTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 118489858 118489859 118489859 exon -29 0.7083333 GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCAGCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 105 984 0.9233901 0.9947639 0.959077 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.02088195 0.03560063 0.9963987 0.9308357 NA 0.02824129 NA FALSE NA 1 5.732 . missense_variant MODERATE KMT2A HGNC 7132 ENST00000389506 12/36 1 possibly_damaging(0.475) NA ACC C,G 8.236e-06 11:118489859 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 missense_variant 5.888615 0.9923 0.98776 0.706548 0.9897048 0 1 TRUE 4.06072e-06 ENSE00002360769_012 ENSE00002360769 012 11 118360465 118360634 + 42 96 32 A G 118360584 2779 120 CTCTATAAAAGAGCATCATGTGTATAACTCACCCAGACTTTCTTCTTCTTCGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 118489868 118489869 118489869 exon -19 0.8125 GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACGAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant 15 16 0.6721177 0.839681 0.7558993 281 615 0.9945029 0.9979949 0.9962489 0.9990524 0.993745 0.9025081 0.9591633 -0.3269347 -0.154064 0.09199482 0.03883163 0.9963987 0.9308357 -0.2404994 0.06541322 0.3059126 FALSE FALSE 0.276 -0.231 rs113523063 synonymous_variant LOW KMT2A HGNC 7132 ENST00000389506 12/36 1 NA CAA A,G 7.413e-05 11:118489869 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 synonymous_variant -0.230035 0.9442 0.41424 0.706548 0.6490331 0 1 TRUE 6.09127e-05 ENSE00002360769_013 ENSE00002360769 013 11 118360465 118360634 + 42 96 32 A C 118360614 2780 150 CTCTATAAAAGAGCATCATGGGTATAACTCACCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCTGCTGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 118489898 118489899 118489899 downstr_intron 12 1.387097 GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACCCATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG mutant NA NA NA NA NA 89 2281 0.9315418 0.999212 0.9653769 0.9990524 0.993745 0.9025081 0.9591633 NA NA 0.02903369 0.0400487 0.9963987 0.9308357 NA 0.03454119 NA FALSE NA 0 0.271 . intron_variant MODIFIER KMT2A HGNC 7132 ENST00000389506 12/35 1 NA CAC A,C 8.236e-06 11:118489899 KMT2A HGNC Symbol protein_coding 90342 ENSG00000118058 ENSE00002494273 intron_variant 0.899334 0.24567 0.10085 0.062308 0.688739 0.195985 1 TRUE 4.0626e-06 ENSE00002360769_BRK ENSE00002360769 BRK 11 118360465 118360634 + 42 96 32 A,G; T,T NA NA NA CTCTATAAAAGAGCATCATGTGTATAACTCGGCCAGACTTTCTTCTTCTTTGTGGGTTTGGTGGGGTAGTTTGGTCCCAGGCACTCAGGGTGATAGCTGTTTCGGCACTTATTACACTCCAGCAGCTGAAGTAAGAAAATATAATGGCAAAAAGATAAGCATCATATTAC 118489749 118489919 NA NA NA NA NA NA GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACTTCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGCCGAGTTATACACATGATGCTCTTTTATAGAG GTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAG control 72 82 0 0 0 403 60 0 0 0 0.9990524 0.993745 0.9025081 0.9591633 -0.9990524 -0.993745 -0.9025081 -0.9591633 0.9963987 0.9308357 -0.9963987 -0.9308357 0.06556305 TRUE TRUE NA NA NA NA NA KMT2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KMT2A NA NA NA ENSG00000118058 ENSE00002494273 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002361012_000 ENSE00002361012 000 7 65595690 65595859 + 41 99 30 NA NA NA NA NA TAGGTAGGCCTGGCAGAAGCCCAGCCTTACTTCATAGGTGATAGTGTTCAAGTTCTGTTGCCCAGAGCTGTGTTTATTCTTTCCACTTTCTTTACGCTGCTCTTTCAGATCAGTTAGTAACTGAAATACCTAGGAGGAGATACAAAAAAGACGTTTATGAATAAATTTGA 66130702 66130872 NA NA NA NA NA NA TCAAATTTATTCATAAACGTCTTTTTTGTATCTCCTCCTAGGTATTTCAGTTACTAACTGATCTGAAAGAGCAGCGTAAAGAAAGTGGAAAGAATAAACACAGCTCTGGGCAACAGAACTTGAACACTATCACCTATGAAGTAAGGCTGGGCTTCTGCCAGGCCTACCTA TCAAATTTATTCATAAACGTCTTTTTTGTATCTCCTCCTAGGTATTTCAGTTACTAACTGATCTGAAAGAGCAGCGTAAAGAAAGTGGAAAGAATAAACACAGCTCTGGGCAACAGAACTTGAACACTATCACCTATGAAGTAAGGCTGGGCTTCTGCCAGGCCTACCTA natural 31 96 0.7154387 0.8384619 0.7769503 875 809 0.7633074 0.8737735 0.8185404 0.7154387 0.8384619 0.7633074 0.8737735 0 0 0 0 0.7769503 0.8185404 0 0 0 FALSE FALSE NA NA NA NA NA CRCP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CRCP NA NA NA ENSG00000241258 ENSE00003562563 NA NA NA NA NA NA NA 0.001398927 FALSE NA ENSE00002361012_BRK ENSE00002361012 BRK 7 65595690 65595859 + 41 99 30 A,G; T,T NA NA NA TAGGTAGGCCTGGCAGAAGCCCAGCCTTGGTTCATAGGTGATAGTGTTCAAGTTCTGTTGCCCAGAGCTGTGTTTATTCTTTCCACTTTCTTTACGCTGCTCTTTCAGATCAGTTAGTAACTGAAATACAAAGGAGGAGATACAAAAAAGACGTTTATGAATAAATTTGA 66130702 66130872 NA NA NA NA NA NA TCAAATTTATTCATAAACGTCTTTTTTGTATCTCCTCCTTTGTATTTCAGTTACTAACTGATCTGAAAGAGCAGCGTAAAGAAAGTGGAAAGAATAAACACAGCTCTGGGCAACAGAACTTGAACACTATCACCTATGAACCAAGGCTGGGCTTCTGCCAGGCCTACCTA TCAAATTTATTCATAAACGTCTTTTTTGTATCTCCTCCTAGGTATTTCAGTTACTAACTGATCTGAAAGAGCAGCGTAAAGAAAGTGGAAAGAATAAACACAGCTCTGGGCAACAGAACTTGAACACTATCACCTATGAAGTAAGGCTGGGCTTCTGCCAGGCCTACCTA control NA NA NA NA NA 101 320 0 0.001000936 0.000500468 0.7154387 0.8384619 0.7633074 0.8737735 NA NA -0.7633074 -0.8727726 0.7769503 0.8185404 NA -0.81804 NA TRUE NA NA NA NA NA NA CRCP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CRCP NA NA NA ENSG00000241258 ENSE00003562563 NA NA NA NA NA NA NA 0.001398927 FALSE NA ENSE00002361318_000 ENSE00002361318 000 3 126158443 126158612 - 32 96 42 NA NA NA NA NA TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 NA NA NA NA NA NA TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT natural 66 61 0.8416501 0.85 0.8458251 4866 1111 0.8564673 0.9768454 0.9166564 0.8416501 0.85 0.8564673 0.9768454 0 0 0 0 0.8458251 0.9166564 0 0 0 FALSE FALSE NA NA NA NA NA CCDC37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZXDC NA NA NA ENSG00000070476 ENSE00003557038 NA NA NA NA NA NA NA 0.0008186516 FALSE NA ENSE00002361318_003 ENSE00002361318 003 3 126158443 126158612 - 32 96 42 G A 126158484 2577 129 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTATGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439640 126439641 126439641 exon -10 0.90625 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTATGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 512 853 0.8298333 0.8018628 0.815848 0.8416501 0.85 0.8564673 0.9768454 NA NA -0.02663406 -0.1749827 0.8458251 0.9166564 NA -0.1008084 NA FALSE NA 0.903 -0.34 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 1 NA CGT G,A 1.965e-05 3:126439641 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 synonymous_variant 0.701618 0.32321 0.14079 0.706298 0.9338247 0 0.0008186516 FALSE NA ENSE00002361318_004 ENSE00002361318 004 3 126158443 126158612 - 32 96 42 C T 126158489 2578 124 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCATCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439645 126439646 126439646 exon -15 0.8541667 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCATCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 951 2177 0.9533201 0.9519452 0.9526326 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.09685272 -0.02490024 0.8458251 0.9166564 NA 0.03597624 NA FALSE NA 0.26 0.459 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 1 NA ACG C,T 4.894e-05 3:126439646 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 missense_variant 2.633938 0.74313 0.18366 0.706298 0.9739853 0 0.0008186516 FALSE 8.55004e-05 ENSE00002361318_005 ENSE00002361318 005 3 126158443 126158612 - 32 96 42 G A 126158490 2579 123 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCTGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439646 126439647 126439647 exon -16 0.84375 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCTGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 21 110 0.9462694 0.9719209 0.9590952 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.08980211 -0.004924559 0.8458251 0.9166564 NA 0.04243877 NA FALSE NA 0.195 -0.768 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 rs370242276 1 NA A:0 A:0.0007 CGG G,A 0.0003023 3:126439647 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 synonymous_variant 1.745829 0.25794 0.02026 0.706298 0.9133055 0 0.0008186516 FALSE 0.000505966 ENSE00002361318_007 ENSE00002361318 007 3 126158443 126158612 - 32 96 42 C T 126158501 2581 112 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTATGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439657 126439658 126439658 exon -27 0.7291667 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTATGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 32 73 0.9486017 0.9580316 0.9533166 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.09213432 -0.01881386 0.8458251 0.9166564 NA 0.03666023 NA FALSE NA 0 -0.122 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 1 NA ACA C,T 9.698e-06 3:126439658 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 missense_variant 1.587148 0.13795 0.02155 0.706298 0.9762443 0 0.0008186516 FALSE NA ENSE00002361318_009 ENSE00002361318 009 3 126158443 126158612 - 32 96 42 G A 126158517 2583 96 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTTCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439673 126439674 126439674 exon -43 0.5625 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTTCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 687 371 0.9501122 0.9081799 0.929146 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.09364488 -0.06866555 0.8458251 0.9166564 NA 0.01248966 NA FALSE NA 0.583 0.437 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 1 NA GGA G,A 9.85e-06 3:126439674 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 synonymous_variant 0.131803 0.18256 0.30915 0.706298 0.7791265 0 0.0008186516 FALSE 1.97806e-05 ENSE00002361318_010 ENSE00002361318 010 3 126158443 126158612 - 32 96 42 C T 126158525 2584 88 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAACCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439681 126439682 126439682 exon 46 0.4791667 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAACCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 439 314 0.9897991 0.8343546 0.9120769 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.1333318 -0.1424908 0.8458251 0.9166564 NA -0.004579521 NA FALSE NA 0.38 0.519 rs190176785 downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 rs190176785 1 T:0.0006 T:0 T:0 NA T:0 T:0.003 T:0 T:0 T:0.0001 GCT C,T 0.0002822 3:126439682 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 missense_variant 2.184951 0.18265 0.14234 0.706298 0.9714147 0 0.0008186516 FALSE 0.000343811 ENSE00002361318_011 ENSE00002361318 011 3 126158443 126158612 - 32 96 42 G A 126158527 2585 86 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCTAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439683 126439684 126439684 exon 44 0.4583333 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCTAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 1285 1742 0.8660839 0.8056225 0.8358532 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.009616579 -0.1712229 0.8458251 0.9166564 NA -0.08080316 NA FALSE NA 0.994 2.936 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 1 NA TGG G,A 4.119e-05 3:126439684 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 missense_variant 2.385149 0.33346 0.52085 0.615465 0.9760928 0 0.0008186516 FALSE NA ENSE00002361318_013 ENSE00002361318 013 3 126158443 126158612 - 32 96 42 C T 126158533 2587 80 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCACGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439689 126439690 126439690 exon 38 0.3958333 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCACGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 121 224 0.8013309 0.869556 0.8354434 0.8416501 0.85 0.8564673 0.9768454 NA NA -0.05513646 -0.1072894 0.8458251 0.9166564 NA -0.08121295 NA FALSE NA 0.914 0.778 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 rs536871195 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCG C,T 8.244e-05 3:126439690 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 missense_variant 1.249671 0.16658 0.12951 0.706298 0.9813559 0 0.0008186516 FALSE NA ENSE00002361318_014 ENSE00002361318 014 3 126158443 126158612 - 32 96 42 G A 126158539 2588 74 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTTGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439695 126439696 126439696 exon 32 0.3333333 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTTGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 3168 492 0.9305631 0.9144423 0.9225027 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.07409577 -0.06240315 0.8458251 0.9166564 NA 0.005846313 NA FALSE NA 0.008 2.197 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 1 NA CGA G,A 5.204e-05 3:126439696 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 missense_variant -0.11051 0.10871 0.01151 0.706298 0.7397909 0 0.0008186516 FALSE 7.32962e-05 ENSE00002361318_016 ENSE00002361318 016 3 126158443 126158612 - 32 96 42 G A 126158556 2590 57 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGTGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439712 126439713 126439713 exon 15 0.15625 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGTGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 697 2483 0.8410759 0.8085667 0.8248213 0.8416501 0.85 0.8564673 0.9768454 NA NA -0.01539142 -0.1682787 0.8458251 0.9166564 NA -0.09183508 NA FALSE NA 0.009 -0.758 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 1 NA CGC G,A 1.112e-05 3:126439713 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 synonymous_variant 1.033048 0.37285 0.01548 0.706298 0.9109093 0 0.0008186516 FALSE NA ENSE00002361318_018 ENSE00002361318 018 3 126158443 126158612 - 32 96 42 G A 126158575 2592 38 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTTCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439731 126439732 126439732 upstr_intron -5 -0.0952381 TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTTCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 105 181 0.9916189 1 0.9958095 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.1351516 0.02315457 0.8458251 0.9166564 NA 0.07915308 NA FALSE NA 0.982 1.086 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 rs373979788 1 NA A:0.0002 A:0 GGA G,A 3.635e-05 3:126439732 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 splice_region_variant 1.58005 0.92744 0.73796 0.162113 0.8705083 0.962793 0.0008186516 FALSE 2.04315e-05 ENSE00002361318_020 ENSE00002361318 020 3 126158443 126158612 - 32 96 42 G A 126158587 2594 26 TCTCACAGACATGTGACAGGCCTTTTTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439743 126439744 126439744 upstr_intron -17 -0.3809524 TCTCACAGACATGTGACAGGCCTTTTTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 397 1118 0.9784181 0.9586587 0.9685384 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.1219507 -0.01818674 0.8458251 0.9166564 NA 0.051882 NA FALSE NA 0.002 1.022 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 rs201085779 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 AGA G,A 1.311e-05 3:126439744 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 non_coding_transcript_exon_variant 0.938619 0.14737 0.05306 0.162113 0.8824497 0.092264 0.0008186516 FALSE 6.91697e-06 ENSE00002361318_021 ENSE00002361318 021 3 126158443 126158612 - 32 96 42 A T 126158601 2595 12 TCTCACAGACAAGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 126439757 126439758 126439758 upstr_intron -31 -0.7142857 TCTCACAGACAAGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT mutant NA NA NA NA NA 535 1831 0.9865753 0.9592959 0.9729356 0.8416501 0.85 0.8564673 0.9768454 NA NA 0.130108 -0.01754949 0.8458251 0.9166564 NA 0.05627924 NA FALSE NA 0 -1.234 . downstream_gene_variant MODIFIER CCDC37 HGNC 26842 ENST00000505024 1 NA CAT A,T 8.899e-05 3:126439758 ZXDC HGNC Symbol protein_coding 38318 ENSG00000070476 ENSE00003557038 non_coding_transcript_exon_variant -0.233654 0.15306 0.03053 0.256867 0.8111593 0.0503475 0.0008186516 FALSE NA ENSE00002361318_BRK ENSE00002361318 BRK 3 126158443 126158612 - 32 96 42 A,G; T,T NA NA NA TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCTTGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGCCCTGGATGCCTTACTGCCCTTTGTTTTTCTT 126439599 126439769 NA NA NA NA NA NA TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCTTGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGCCCTGGATGCCTTACTGCCCTTTGTTTTTCTT TCTCACAGACATGTGACAGGCCTTTCTGTGTTGCCTTCCCAGGATGACCCCTCCGGCGAAGGTGTCCTGCCCTCGGCCCGCGGCCCAGCCACCTTCCTCCCCTTCCTCACTGTGGACCTGCCCGTCTACGTCCTCCAGGTCTGGATGCCTTACTGCCCTTTGTTTTTCTT control NA NA NA NA NA 839 179 0.01096478 0.01573847 0.01335162 0.8416501 0.85 0.8564673 0.9768454 NA NA -0.8455026 -0.961107 0.8458251 0.9166564 NA -0.9033048 NA TRUE NA NA NA NA NA NA CCDC37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZXDC NA NA NA ENSG00000070476 ENSE00003557038 NA NA NA NA NA NA NA 0.0008186516 FALSE NA ENSE00002361337_000 ENSE00002361337 000 12 56501261 56501430 + 44 93 33 NA NA NA NA NA AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 NA NA NA NA NA NA ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT natural 62 32 0.9988087 0.9970712 0.99794 6296 7195 0.9356598 0.9278942 0.931777 0.9988087 0.9970712 0.9356598 0.9278942 0 0 0 0 0.99794 0.931777 0 0 0 FALSE FALSE NA NA NA NA NA PA2G4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PA2G4 NA NA NA ENSG00000170515 ENSE00003555016 NA NA NA NA NA NA NA 0.998001 TRUE NA ENSE00002361337_BRK ENSE00002361337 BRK 12 56501261 56501430 + 44 93 33 A,G; T,T NA NA NA AAACGAGCTTTGGAATTGGATAAAATAGCTTGGCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCAAGTAGATAAGGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 NA NA NA NA NA NA ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACTTGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGCCAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT control NA NA NA NA NA 722 901 0.003344975 0.05356959 0.02845728 0.9988087 0.9970712 0.9356598 0.9278942 NA NA -0.9323148 -0.8743246 0.99794 0.931777 NA -0.9033197 NA TRUE NA NA NA NA NA NA PA2G4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PA2G4 NA NA NA ENSG00000170515 ENSE00003555016 NA NA NA NA NA NA NA 0.998001 TRUE NA ENSE00002361451_000 ENSE00002361451 000 12 121932346 121932515 - 36 87 47 NA NA NA NA NA ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC 121494542 121494712 NA NA NA NA NA NA ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC natural 25 32 0.9962803 0.998367 0.9973237 261 337 0.9953357 0.9222586 0.9587972 0.9962803 0.998367 0.9953357 0.9222586 0 0 0 0 0.9973237 0.9587972 0 0 0 FALSE FALSE NA NA NA NA NA KDM2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDM2B NA NA NA ENSG00000089094 ENSE00003547124 NA NA NA NA NA NA NA 0.9997859 TRUE NA ENSE00002361451_002 ENSE00002361451 002 12 121932346 121932515 - 36 87 47 C T 121932374 3720 142 GAAGCGGCCGCCCGCTGCAGGCAGGCTGTGTCTTACCTTTGGAGTCTTCTTTGGCCAAGTCACCACAGGGACCCCAGTGATGGCCAGACTAGGGTCATCATCTGCGTGCTCCTTCAGGACGTTCTGTGGCCAAACAAAGCATCCATATTAGCCCAGGGGGAAGGGGAGGT 121494542 121494712 121494570 121494571 121494571 downstr_intron 8 1.228571 ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACACAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC mutant NA NA NA NA NA 336 104 0.9991395 1 0.9995697 0.9962803 0.998367 0.9953357 0.9222586 NA NA 0.003803749 0.07774138 0.9973237 0.9587972 NA 0.04077256 NA FALSE NA 0 -1.019 . splice_region_variant&intron_variant LOW KDM2B HGNC 13610 ENST00000536437 11/12 1 NA GCG C,T 8.27e-06 12:121494571 KDM2B HGNC Symbol protein_coding 151918 ENSG00000089094 ENSE00003547124 missense_variant -0.147071 0.04635 0.0388 0 0.8958141 0 0.9997859 TRUE NA ENSE00002361451_004 ENSE00002361451 004 12 121932346 121932515 - 36 87 47 T A 121932378 3722 138 ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTATGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC 121494542 121494712 121494574 121494575 121494575 downstr_intron 4 1.114286 ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTATGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC mutant NA NA NA NA NA 177 178 0.9738932 1 0.9869466 0.9962803 0.998367 0.9953357 0.9222586 NA NA -0.02144254 0.07774138 0.9973237 0.9587972 NA 0.02814942 NA FALSE NA 1 4.019 . splice_region_variant&intron_variant LOW KDM2B HGNC 13610 ENST00000536437 11/12 1 NA CTT T,A 8.269e-06 12:121494575 KDM2B HGNC Symbol protein_coding 151918 ENSG00000089094 ENSE00003547124 stop_gained 1.704723 0.8074 0.91206 0 0.9413843 0 0.9997859 TRUE 4.12137e-06 ENSE00002361451_006 ENSE00002361451 006 12 121932346 121932515 - 36 87 47 A G 121932410 3724 106 GAAGCGGCCGCCCGCTGCAGGCAGGCTGCGTCTTACCTTTGGAGTCTTCTTTGGCCAAGTCACCGCAGGGACCCCAGTGATGGCCAGACTAGGGTCATCATCTGCGTGCTCCTTCAGGACGTTCTGTGGCCAAACAAAGCATCCATATTAGCCCAGGGGGAAGGGGAGGT 121494542 121494712 121494606 121494607 121494607 exon -29 0.6781609 ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGCGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC mutant NA NA NA NA NA 27 19 1 1 1 0.9962803 0.998367 0.9953357 0.9222586 NA NA 0.00466428 0.07774138 0.9973237 0.9587972 NA 0.04120283 NA FALSE NA 1 6.519 . missense_variant MODERATE KDM2B HGNC 13610 ENST00000536437 11/13 1 tolerated(0.08) benign(0.012) NA CAC A,G 8.265e-06 12:121494607 KDM2B HGNC Symbol protein_coding 151918 ENSG00000089094 ENSE00003547124 missense_variant 3.795801 0.83555 0.95105 0.645754 0.9946792 0 0.9997859 TRUE 4.08117e-06 ENSE00002361451_012 ENSE00002361451 012 12 121932346 121932515 - 36 87 47 C T 121932460 3730 56 GAAGCGGCCGCCCGCTGCAGGCAGGCTGCGTCTTACCTTTGGAGTCTTCTTTGGCCAAGTCACCACAGGGACCCCAGTGATGGCCAGACTAGGGTCATCATCTGCGTGCTCCTTTAGGACGTTCTGTGGCCAAACAAAGCATCCATATTAGCCCAGGGGGAAGGGGAGGT 121494542 121494712 121494656 121494657 121494657 exon 9 0.1034483 ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTAAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC mutant NA NA NA NA NA 227 43 1 1 1 0.9962803 0.998367 0.9953357 0.9222586 NA NA 0.00466428 0.07774138 0.9973237 0.9587972 NA 0.04120283 NA FALSE NA 1 1.157 . synonymous_variant LOW KDM2B HGNC 13610 ENST00000536437 11/13 1 NA TCA C,T 8.263e-06 12:121494657 KDM2B HGNC Symbol protein_coding 151918 ENSG00000089094 ENSE00003547124 synonymous_variant 1.612683 0.85193 0.84079 0.645754 0.901732 0 0.9997859 TRUE 2.07505e-05 ENSE00002361451_013 ENSE00002361451 013 12 121932346 121932515 - 36 87 47 G A 121932463 3731 53 ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTTCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC 121494542 121494712 121494659 121494660 121494660 exon 6 0.06896552 ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTTCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC mutant NA NA NA NA NA 62 57 0.9689353 1 0.9844677 0.9962803 0.998367 0.9953357 0.9222586 NA NA -0.02640039 0.07774138 0.9973237 0.9587972 NA 0.02567049 NA FALSE NA 0.973 -0.064 . synonymous_variant LOW KDM2B HGNC 13610 ENST00000536437 11/13 1 NA GGA G,A 5.784e-05 12:121494660 KDM2B HGNC Symbol protein_coding 151918 ENSG00000089094 ENSE00003547124 synonymous_variant 1.313993 0.67344 0.65863 0.645754 0.7911431 0 0.9997859 TRUE 9.18926e-05 ENSE00002361451_015 ENSE00002361451 015 12 121932346 121932515 - 36 87 47 A G 121932483 3733 33 GAAGCGGCCGCCCGCTGCAGGCAGGCTGCGTCTTACCTTTGGAGTCTTCTTTGGCCAAGTCACCACAGGGACCCCAGTGATGGCCAGACTAGGGTCATCATCTGCGTGCTCCTTCAGGACGTTCTGTGGCCAAACAAGGCATCCATATTAGCCCAGGGGGAAGGGGAGGT 121494542 121494712 121494679 121494680 121494680 upstr_intron -15 -0.2978723 ACCTCCCCTTCCCCCTGGGCTAATATGGATGCCTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC mutant 22 63 0.9473798 0.85 0.8986899 NA NA NA NA NA 0.9962803 0.998367 0.9953357 0.9222586 -0.04890049 -0.148367 NA NA 0.9973237 0.9587972 -0.09863376 NA NA NA FALSE 1 2.642 . intron_variant MODIFIER KDM2B HGNC 13610 ENST00000536437 10/12 1 NA AAG A,G 8.265e-06 12:121494680 KDM2B HGNC Symbol protein_coding 151918 ENSG00000089094 ENSE00003547124 intron_variant 0.402262 0.70651 0.87408 0.0869 0.6920229 0.415421 0.9997859 TRUE 1.7212e-05 ENSE00002361451_019 ENSE00002361451 019 12 121932346 121932515 - 36 87 47 A T 121932490 3737 26 GAAGCGGCCGCCCGCTGCAGGCAGGCTGCGTCTTACCTTTGGAGTCTTCTTTGGCCAAGTCACCACAGGGACCCCAGTGATGGCCAGACTAGGGTCATCATCTGCGTGCTCCTTCAGGACGTTCTGTGGCCAAACAAAGCATCCTTATTAGCCCAGGGGGAAGGGGAGGT 121494542 121494712 121494686 121494687 121494687 upstr_intron -22 -0.4468085 ACCTCCCCTTCCCCCTGGGCTAATAAGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC mutant NA NA NA NA NA 140 37 0.985504 0.8697091 0.9276066 0.9962803 0.998367 0.9953357 0.9222586 NA NA -0.00983171 -0.05254948 0.9973237 0.9587972 NA -0.03119059 NA FALSE NA 0.001 0.496 . intron_variant MODIFIER KDM2B HGNC 13610 ENST00000536437 10/12 1 NA CAT A,T 8.266e-06 12:121494687 KDM2B HGNC Symbol protein_coding 151918 ENSG00000089094 ENSE00003547124 intron_variant 0.302759 0.12647 0.1772 0.0869 0.790466 0.18368 0.9997859 TRUE NA ENSE00002361451_BRK ENSE00002361451 BRK 12 121932346 121932515 - 36 87 47 A,G; T,T NA NA NA ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACTTAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGCCAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC 121494542 121494712 NA NA NA NA NA NA ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACTTAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGCCAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC ACCTCCCCTTCCCCCTGGGCTAATATGGATGCTTTGTTTGGCCACAGAACGTCCTGAAGGAGCACGCAGATGATGACCCTAGTCTGGCCATCACTGGGGTCCCTGTGGTGACTTGGCCAAAGAAGACTCCAAAGGTAAGACGCAGCCTGCCTGCAGCGGGCGGCCGCTTC control 233 188 0.005643868 0.0174013 0.01152258 298 3015 0 0.0009560376 0.0004780188 0.9962803 0.998367 0.9953357 0.9222586 -0.9906364 -0.9809657 -0.9953357 -0.9213026 0.9973237 0.9587972 -0.9858011 -0.9583192 0.02748192 TRUE TRUE NA NA NA NA NA KDM2B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KDM2B NA NA NA ENSG00000089094 ENSE00003547124 NA NA NA NA NA NA NA 0.9997859 TRUE NA ENSE00002361772_000 ENSE00002361772 000 3 56916272 56916441 - 48 63 59 NA NA NA NA NA TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT 56882243 56882413 NA NA NA NA NA NA TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT natural 40 23 0.9966049 0.9899769 0.9932909 2091 1582 0.9933906 0.8569778 0.9251842 0.9966049 0.9899769 0.9933906 0.8569778 0 0 0 0 0.9932909 0.9251842 0 0 0 FALSE FALSE NA NA NA NA NA ARHGEF3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF3 NA NA NA ENSG00000163947 ENSE00003573070 NA NA NA NA NA NA NA 0.9912714 TRUE NA ENSE00002361772_001 ENSE00002361772 001 3 56916272 56916441 - 48 63 59 C T 56916286 1827 156 TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCAAGAGCATCTCTCTT 56882243 56882413 56882257 56882258 56882258 downstr_intron 34 1.723404 TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCAAGAGCATCTCTCTT TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT mutant NA NA NA NA NA 303 1188 1 0.9982082 0.9991041 0.9966049 0.9899769 0.9933906 0.8569778 NA NA 0.006609423 0.1412304 0.9932909 0.9251842 NA 0.07391991 NA FALSE NA 0 -1.657 . intron_variant&non_coding_transcript_variant MODIFIER ARHGEF3 HGNC 683 ENST00000481422 2/5 1 NA TCG C,T 3.448e-05 3:56882258 ARHGEF3 HGNC Symbol protein_coding 351911 ENSG00000163947 ENSE00003573070 intron_variant 0.054436 0.16447 0.02303 0.163922 0.7663185 0.0448877 0.9912714 TRUE 7.26696e-05 ENSE00002361772_004 ENSE00002361772 004 3 56916272 56916441 - 48 63 59 G T 56916296 1830 146 TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCAACTGGCACCGAGAGCATCTCTCTT 56882243 56882413 56882267 56882268 56882268 downstr_intron 24 1.510638 TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCAACTGGCACCGAGAGCATCTCTCTT TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT mutant NA NA NA NA NA 77 272 1 1 1 0.9966049 0.9899769 0.9933906 0.8569778 NA NA 0.006609423 0.1430222 0.9932909 0.9251842 NA 0.07481581 NA FALSE NA 0 -0.13 . intron_variant&non_coding_transcript_variant MODIFIER ARHGEF3 HGNC 683 ENST00000481422 2/5 1 NA TGG G,T 3.434e-05 3:56882268 ARHGEF3 HGNC Symbol protein_coding 351911 ENSG00000163947 ENSE00003573070 intron_variant -0.284115 0.18404 0.04587 0.163922 0.4338335 0.0455939 0.9912714 TRUE 6.58666e-06 ENSE00002361772_005 ENSE00002361772 005 3 56916272 56916441 - 48 63 59 G A 56916303 1831 139 TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTTTTCCCCCACTGGCACCGAGAGCATCTCTCTT 56882243 56882413 56882274 56882275 56882275 downstr_intron 17 1.361702 TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTTTTCCCCCACTGGCACCGAGAGCATCTCTCTT TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT mutant NA NA NA NA NA 200 22 0.9947395 1 0.9973697 0.9966049 0.9899769 0.9933906 0.8569778 NA NA 0.001348921 0.1430222 0.9932909 0.9251842 NA 0.07218555 NA FALSE NA 0.003 0.529 rs78662131 intron_variant&non_coding_transcript_variant MODIFIER ARHGEF3 HGNC 683 ENST00000481422 2/5 rs78662131 1 A:0.0056 A:0.0189 A:0.0043 NA A:0 A:0 A:0 A:0.0079 A:0 AGA G,A 0.0008225 3:56882275 ARHGEF3 HGNC Symbol protein_coding 351911 ENSG00000163947 ENSE00003573070 intron_variant 0.105168 0.18269 0.00825 0.163922 0.5457519 0.0709478 0.9912714 TRUE 0.000572052 ENSE00002361772_008 ENSE00002361772 008 3 56916272 56916441 - 48 63 59 G A 56916396 1834 46 TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTTGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT 56882243 56882413 56882367 56882368 56882368 upstr_intron -14 -0.220339 TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTTGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT TTAATCAAAGCCATAACCCCTACTTACCTTTGAACTTTGTTTTTTCGTTTGTTTTGCAGCGAAAACGGAAACAGAGCACCCAAGATGAAGATGCTGTTAGCCTTTGCAGTCTCGACATAAGTGTAAGTATAGTCCTTTCTTCCCCCACTGGCACCGAGAGCATCTCTCTT mutant NA NA NA NA NA 43 187 1 0.9953933 0.9976966 0.9966049 0.9899769 0.9933906 0.8569778 NA NA 0.006609423 0.1384155 0.9932909 0.9251842 NA 0.07251245 NA FALSE NA 0 -0.326 . intron_variant&non_coding_transcript_variant MODIFIER ARHGEF3 HGNC 683 ENST00000481422 1/5 1 NA CGA G,A 3.781e-05 3:56882368 ARHGEF3 HGNC Symbol protein_coding 351911 ENSG00000163947 ENSE00003573070 intron_variant 0.703737 0.15398 0.01556 0.106106 0.6607645 0.0958348 0.9912714 TRUE 1.97649e-05 ENSE00002361855_000 ENSE00002361855 000 17 33433373 33433542 - 32 96 42 NA NA NA NA NA CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA 35106353 35106523 NA NA NA NA NA NA CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA natural NA NA NA NA NA 512 1204 0.9855349 0.987719 0.9866269 NA NA 0.9855349 0.987719 NA NA 0 0 NA 0.9866269 NA 0 NA FALSE NA NA NA NA NA NA RAD51D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RAD51D NA NA NA ENSG00000185379 ENSE00003639346 NA NA NA NA NA NA NA 6.188046e-07 FALSE NA ENSE00002362019_000 ENSE00002362019 000 5 113699561 113699730 + 42 96 32 NA NA NA NA NA GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 NA NA NA NA NA NA GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC natural 30 16 0.9994233 1 0.9997116 1326 1231 0.8250516 0.8605074 0.8427795 0.9994233 1 0.8250516 0.8605074 0 0 0 0 0.9997116 0.8427795 0 0 0 FALSE FALSE NA NA NA NA NA KCNN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCNN2 NA NA NA ENSG00000080709 ENSE00003691261 NA NA NA NA NA NA NA 0.9710487 TRUE NA ENSE00002362019_002 ENSE00002362019 002 5 113699561 113699730 + 42 96 32 C T 113699584 1044 24 GTGCTTCTTTCTTAAAAGTGCTTTTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363886 114363887 114363887 upstr_intron -19 -0.4285714 GTGCTTCTTTCTTAAAAGTGCTTTTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 188 71 0.9865707 0.9240051 0.9552879 0.9994233 1 0.8250516 0.8605074 NA NA 0.1615192 0.06349769 0.9997116 0.8427795 NA 0.1125084 NA FALSE NA 0.04 0.342 . intron_variant MODIFIER KCNN2 HGNC 6291 ENST00000512097 2/8 1 NA TCT C,T 8.236e-06 5:114363887 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 intron_variant 2.836439 0.85977 0.16778 0.110573 0.9161417 0.44632 0.9710487 TRUE NA ENSE00002362019_004 ENSE00002362019 004 5 113699561 113699730 + 42 96 32 C G 113699588 1046 28 GTGCTTCTTTCTTAAAAGTGCTTCTGTGTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363890 114363891 114363891 upstr_intron -15 -0.3333333 GTGCTTCTTTCTTAAAAGTGCTTCTGTGTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 247 211 1 0.9734661 0.986733 0.9994233 1 0.8250516 0.8605074 NA NA 0.1749484 0.1129587 0.9997116 0.8427795 NA 0.1439536 NA FALSE NA 0.987 0.177 . intron_variant MODIFIER KCNN2 HGNC 6291 ENST00000512097 2/8 1 NA TCT C,G 1.647e-05 5:114363891 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 intron_variant 2.409024 0.28839 0.11033 0.110573 0.8803304 0.397907 0.9710487 TRUE 2.45325e-05 ENSE00002362019_005 ENSE00002362019 005 5 113699561 113699730 + 42 96 32 G T 113699594 1047 34 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTTTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363896 114363897 114363897 upstr_intron -9 -0.1904762 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTTTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 664 282 1 0.9943499 0.9971749 0.9994233 1 0.8250516 0.8605074 NA NA 0.1749484 0.1338425 0.9997116 0.8427795 NA 0.1543955 NA FALSE NA 0.918 -0.021 . intron_variant MODIFIER KCNN2 HGNC 6291 ENST00000512097 2/8 1 NA TGT G,T 8.236e-06 5:114363897 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 intron_variant 2.184363 0.88403 0.59415 0.110573 0.8708528 0.522761 0.9710487 TRUE 4.0824e-06 ENSE00002362019_006 ENSE00002362019 006 5 113699561 113699730 + 42 96 32 G C 113699608 1048 48 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCCCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363910 114363911 114363911 exon 6 0.0625 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCCCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 985 608 0.9940345 0.994792 0.9944132 0.9994233 1 0.8250516 0.8605074 NA NA 0.1689829 0.1342846 0.9997116 0.8427795 NA 0.1516338 NA FALSE NA 0.992 0.173 . synonymous_variant LOW KCNN2 HGNC 6291 ENST00000512097 3/9 1 NA CGC G,C 3.295e-05 5:114363911 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 synonymous_variant 1.440035 0.90909 0.70169 0.766844 0.7859897 0 0.9710487 TRUE 2.44559e-05 ENSE00002362019_007 ENSE00002362019 007 5 113699561 113699730 + 42 96 32 G T 113699621 1049 61 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTATCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363923 114363924 114363924 exon 19 0.1979167 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTATCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 860 259 0.9999521 1 0.9999761 0.9994233 1 0.8250516 0.8605074 NA NA 0.1749006 0.1394926 0.9997116 0.8427795 NA 0.1571966 NA FALSE NA 1 9.184 . missense_variant MODERATE KCNN2 HGNC 6291 ENST00000512097 3/9 COSM1059772&COSM1059773 1 deleterious(0.04) probably_damaging(0.983) NA AGC G,T 8.236e-06 5:114363924 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 missense_variant 5.832582 0.9802 0.97207 0.766844 0.9979821 0 0.9710487 TRUE NA ENSE00002362019_008 ENSE00002362019 008 5 113699561 113699730 + 42 96 32 A G 113699651 1050 91 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGGTCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363953 114363954 114363954 exon -48 0.5104167 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGGTCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 948 1178 0.9958955 0.9993281 0.9976118 0.9994233 1 0.8250516 0.8605074 NA NA 0.1708439 0.1388208 0.9997116 0.8427795 NA 0.1548323 NA FALSE NA 1 5.677 . missense_variant MODERATE KCNN2 HGNC 6291 ENST00000512097 3/9 1 tolerated(1) benign(0.001) NA GAT A,G 8.236e-06 5:114363954 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 missense_variant 0.715817 0.95345 0.91344 0.766844 0.9224726 0 0.9710487 TRUE 4.06355e-06 ENSE00002362019_009 ENSE00002362019 009 5 113699561 113699730 + 42 96 32 C T 113699653 1051 93 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATTATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363955 114363956 114363956 exon -46 0.53125 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATTATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 250 39 0.9942652 1 0.9971326 0.9994233 1 0.8250516 0.8605074 NA NA 0.1692136 0.1394926 0.9997116 0.8427795 NA 0.1543531 NA FALSE NA 1 0.932 . synonymous_variant LOW KCNN2 HGNC 6291 ENST00000512097 3/9 1 NA TCA C,T 8.236e-06 5:114363956 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 synonymous_variant 2.187061 0.93785 0.75221 0.766844 0.9107396 0 0.9710487 TRUE 4.06379e-06 ENSE00002362019_010 ENSE00002362019 010 5 113699561 113699730 + 42 96 32 A G 113699654 1052 94 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCGTCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363956 114363957 114363957 exon -45 0.5416667 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCGTCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 821 406 0.9974622 1 0.9987311 0.9994233 1 0.8250516 0.8605074 NA NA 0.1724106 0.1394926 0.9997116 0.8427795 NA 0.1559516 NA FALSE NA 1 8.688 . missense_variant MODERATE KCNN2 HGNC 6291 ENST00000512097 3/9 rs550123843 1 tolerated(0.18) possibly_damaging(0.768) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAT A,G 8.236e-06 5:114363957 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 missense_variant 4.690461 0.97456 0.96641 0.766844 0.9974642 0 0.9710487 TRUE 4.06365e-06 ENSE00002362019_012 ENSE00002362019 012 5 113699561 113699730 + 42 96 32 C T 113699662 1054 102 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTTGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363964 114363965 114363965 exon -37 0.625 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTTGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 1225 146 0.9878624 0.9989152 0.9933888 0.9994233 1 0.8250516 0.8605074 NA NA 0.1628108 0.1384078 0.9997116 0.8427795 NA 0.1506093 NA FALSE NA 0.033 -0.756 . synonymous_variant LOW KCNN2 HGNC 6291 ENST00000512097 3/9 1 NA TCG C,T 2.471e-05 5:114363965 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 synonymous_variant 2.486194 0.91446 0.19907 0.766844 0.9078458 0 0.9710487 TRUE 2.03222e-05 ENSE00002362019_013 ENSE00002362019 013 5 113699561 113699730 + 42 96 32 G T 113699663 1055 103 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCTGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363965 114363966 114363966 exon -36 0.6354167 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCTGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 9033 38 0.9972358 1 0.9986179 0.9994233 1 0.8250516 0.8605074 NA NA 0.1721842 0.1394926 0.9997116 0.8427795 NA 0.1558384 NA FALSE NA 1 9.184 . missense_variant MODERATE KCNN2 HGNC 6291 ENST00000512097 3/9 COSM1211614&COSM1211615 1 deleterious(0.02) probably_damaging(0.999) NA CGG G,T 1.647e-05 5:114363966 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 missense_variant 6.595056 0.98017 0.97207 0.766844 0.997258 0 0.9710487 TRUE 1.21937e-05 ENSE00002362019_014 ENSE00002362019 014 5 113699561 113699730 + 42 96 32 C G 113699666 1056 106 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTGTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363968 114363969 114363969 exon -33 0.6666667 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTGTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 797 233 1 1 1 0.9994233 1 0.8250516 0.8605074 NA NA 0.1749484 0.1394926 0.9997116 0.8427795 NA 0.1572205 NA FALSE NA 1 5.322 . missense_variant MODERATE KCNN2 HGNC 6291 ENST00000512097 3/9 1 deleterious(0.01) probably_damaging(0.973) NA TCT C,G 8.236e-06 5:114363969 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 missense_variant 6.330169 0.96348 0.93334 0.766844 0.998833 0 0.9710487 TRUE NA ENSE00002362019_015 ENSE00002362019 015 5 113699561 113699730 + 42 96 32 C T 113699671 1057 111 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATTATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363973 114363974 114363974 exon -28 0.71875 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATTATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 485 145 0.8365367 1 0.9182684 0.9994233 1 0.8250516 0.8605074 NA NA 0.01148515 0.1394926 0.9997116 0.8427795 NA 0.07548889 NA FALSE NA 0.999 0.337 . synonymous_variant LOW KCNN2 HGNC 6291 ENST00000512097 3/9 1 NA TCA C,T 8.236e-06 5:114363974 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 synonymous_variant 2.205278 0.92469 0.66366 0.766844 0.8962031 0 0.9710487 TRUE 4.06468e-06 ENSE00002362019_016 ENSE00002362019 016 5 113699561 113699730 + 42 96 32 A G 113699672 1058 112 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCGTCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363974 114363975 114363975 exon -27 0.7291667 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCGTCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 697 856 0.9960186 0.997691 0.9968548 0.9994233 1 0.8250516 0.8605074 NA NA 0.170967 0.1371836 0.9997116 0.8427795 NA 0.1540753 NA FALSE NA 1 5.72 . missense_variant MODERATE KCNN2 HGNC 6291 ENST00000512097 3/9 1 tolerated(0.66) possibly_damaging(0.768) NA CAT A,G 8.236e-06 5:114363975 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 missense_variant 3.949622 0.96224 0.92706 0.766844 0.9774389 0 0.9710487 TRUE 4.06438e-06 ENSE00002362019_018 ENSE00002362019 018 5 113699561 113699730 + 42 96 32 C T 113699683 1060 123 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCATGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363985 114363986 114363986 exon -16 0.84375 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCATGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 80 791 1 0.9921218 0.9960609 0.9994233 1 0.8250516 0.8605074 NA NA 0.1749484 0.1316144 0.9997116 0.8427795 NA 0.1532814 NA FALSE NA 1 1.342 rs144098012 synonymous_variant LOW KCNN2 HGNC 6291 ENST00000512097 3/9 rs144098012&COSM201554&COSM201555 1 NA T:0.0007 T:0.0013 ACG C,T 0.0004365 5:114363986 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 synonymous_variant 2.230138 0.94064 0.82555 0.789315 0.9087702 0 0.9710487 TRUE 0.000463418 ENSE00002362019_019 ENSE00002362019 019 5 113699561 113699730 + 42 96 32 A C 113699687 1061 127 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCCGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363989 114363990 114363990 exon -12 0.8854167 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCCGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 340 190 0.9940049 0.9991667 0.9965858 0.9994233 1 0.8250516 0.8605074 NA NA 0.1689534 0.1386593 0.9997116 0.8427795 NA 0.1538063 NA FALSE NA 1 5.66 rs138572352 synonymous_variant LOW KCNN2 HGNC 6291 ENST00000512097 3/9 rs138572352 1 C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 C:0.002 C:0 CAG A,C 0.0001894 5:114363990 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 synonymous_variant 0.422379 0.96259 0.95338 0.789315 0.8698302 0 0.9710487 TRUE 0.000113863 ENSE00002362019_020 ENSE00002362019 020 5 113699561 113699730 + 42 96 32 A G 113699692 1062 132 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAGATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114363994 114363995 114363995 exon -7 0.9375 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAGATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 1386 475 0.9988925 0.9996669 0.9992797 0.9994233 1 0.8250516 0.8605074 NA NA 0.1738409 0.1391595 0.9997116 0.8427795 NA 0.1565002 NA FALSE NA 1 2.176 . synonymous_variant LOW KCNN2 HGNC 6291 ENST00000512097 3/9 1 NA AAA A,G 8.236e-06 5:114363995 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 synonymous_variant 0.828036 0.92741 0.75927 0.789315 0.7877286 0 0.9710487 TRUE 4.06712e-06 ENSE00002362019_021 ENSE00002362019 021 5 113699561 113699730 + 42 96 32 T G 113699704 1063 144 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACGTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114364006 114364007 114364007 downstr_intron 6 1.193548 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACGTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 629 809 0.998087 1 0.9990435 0.9994233 1 0.8250516 0.8605074 NA NA 0.1730354 0.1394926 0.9997116 0.8427795 NA 0.156264 NA FALSE NA 0.515 1.486 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:114364007 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 splice_region_variant 1.659347 0.36372 0.26057 0.163419 0.879489 0.48079 0.9710487 TRUE 1.22079e-05 ENSE00002362019_022 ENSE00002362019 022 5 113699561 113699730 + 42 96 32 T C 113699704 1064 144 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACCTAGGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114364006 114364007 114364007 downstr_intron 6 1.193548 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACCTAGGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 934 288 1 1 1 0.9994233 1 0.8250516 0.8605074 NA NA 0.1749484 0.1394926 0.9997116 0.8427795 NA 0.1572205 NA FALSE NA 0.515 1.486 NA NA NA KCNN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KCNN2 NA NA NA ENSG00000080709 ENSE00003691261 splice_region_variant 1.466989 0.36734 0.25995 0.163419 0.8620829 0.48079 0.9710487 TRUE 4.06931e-06 ENSE00002362019_023 ENSE00002362019 023 5 113699561 113699730 + 42 96 32 G A 113699707 1065 147 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAAGTCCTGCTGTTTATGAATGACCC 114363863 114364033 114364009 114364010 114364010 downstr_intron 9 1.290323 GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAAGTCCTGCTGTTTATGAATGACCC GTGCTTCTTTCTTAAAAGTGCTTCTGTCTGACTGTGTTGCAGGCGTCGCTGTATTCCTTAGCTCTGAAATGCCTTATCAGTCTCTCCACGATCATCCTGCTCGGTCTGATCATCGTGTACCACGCCAGGGAAATACAGGTAACTTAGGTCCTGCTGTTTATGAATGACCC mutant NA NA NA NA NA 614 698 1 1 1 0.9994233 1 0.8250516 0.8605074 NA NA 0.1749484 0.1394926 0.9997116 0.8427795 NA 0.1572205 NA FALSE NA 0.145 0.207 . intron_variant MODIFIER KCNN2 HGNC 6291 ENST00000512097 3/8 1 NA AGG G,A 1.647e-05 5:114364010 KCNN2 HGNC Symbol protein_coding 135555 ENSG00000080709 ENSE00003691261 intron_variant 2.414168 0.29779 0.07781 0.163419 0.8492457 0.296514 0.9710487 TRUE 1.62811e-05 ENSE00002362261_000 ENSE00002362261 000 21 44515518 44515687 - 30 99 41 NA NA NA NA NA GCCACGCCGCCGTCTCGCCCTGGCTCCTACCTTGACGTACACGTTCCCCACCAGGTGGTCTCCCAGGTTGTCACAGACGTTCATCTCCTCTACTTCCCCATACTTCTCCTCCATTTCTGTAAAAACCTCCTGAAGGGAGACCACAGTGGTTTAAGACTCGTTATACATTA 43095407 43095577 NA NA NA NA NA NA TAATGTATAACGAGTCTTAAACCACTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC TAATGTATAACGAGTCTTAAACCACTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC natural 34 112 0.8170694 0.85 0.8335347 472 39 0.9656738 1 0.9828369 0.8170694 0.85 0.9656738 1 0 0 0 0 0.8335347 0.9828369 0 0 0 FALSE FALSE NA NA NA NA NA U2AF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA U2AF1 NA NA NA ENSG00000160201 ENSE00003694524 NA NA NA NA NA NA NA 0.9865956 TRUE NA ENSE00002362261_010 ENSE00002362261 010 21 44515518 44515687 - 30 99 41 G A 44515652 398 36 GCCACGCCGCCGTCTCGCCCTGGCTCCTACCTTGACGTACACGTTCCCCACCAGGTGGTCTCCCAGGTTGTCACAGACGTTCATCTCCTCTACTTCCCCATACTTCTCCTCCATTTCTGTAAAAACCTCCTGAAAGGAGACCACAGTGGTTTAAGACTCGTTATACATTA 43095407 43095577 43095541 43095542 43095542 upstr_intron -6 -0.1219512 TAATGTATAACGAGTCTTAAACCACTGTGGTCTCCTTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC TAATGTATAACGAGTCTTAAACCACTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC mutant NA NA NA NA NA 581 559 0.9988611 1 0.9994306 0.8170694 0.85 0.9656738 1 NA NA 0.03318731 0 0.8335347 0.9828369 NA 0.01659365 NA FALSE NA 0 1.151 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW U2AF1 HGNC 12453 ENST00000475639 3/6 1 NA AGG G,A 8.236e-06 21:43095542 U2AF1 HGNC Symbol protein_coding 14631 ENSG00000160201 ENSE00003694524 splice_region_variant 1.390352 0.31582 0.40247 0.256867 0.701363 0.302164 0.9865956 TRUE 4.06111e-06 ENSE00002362261_012 ENSE00002362261 012 21 44515518 44515687 - 30 99 41 G A 44515663 400 25 GCCACGCCGCCGTCTCGCCCTGGCTCCTACCTTGACGTACACGTTCCCCACCAGGTGGTCTCCCAGGTTGTCACAGACGTTCATCTCCTCTACTTCCCCATACTTCTCCTCCATTTCTGTAAAAACCTCCTGAAGGGAGACCACAATGGTTTAAGACTCGTTATACATTA 43095407 43095577 43095552 43095553 43095553 upstr_intron -17 -0.3902439 TAATGTATAACGAGTCTTAAACCATTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC TAATGTATAACGAGTCTTAAACCACTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC mutant NA NA NA NA NA 152 78 0.9901215 0.9686864 0.9794039 0.8170694 0.85 0.9656738 1 NA NA 0.02444762 -0.0313136 0.8335347 0.9828369 NA -0.003432992 NA FALSE NA 0 -0.296 . intron_variant&non_coding_transcript_variant MODIFIER U2AF1 HGNC 12453 ENST00000475639 3/6 rs368427617 1 NA A:0 A:0.0002 AGT G,A 0.0002965 21:43095553 U2AF1 HGNC Symbol protein_coding 14631 ENSG00000160201 ENSE00003694524 non_coding_transcript_exon_variant 0.039019 0.37895 0.28567 0.256867 0.6291146 0.053292 0.9865956 TRUE 0.000174641 ENSE00002362261_013 ENSE00002362261 013 21 44515518 44515687 - 30 99 41 G A 44515665 401 23 GCCACGCCGCCGTCTCGCCCTGGCTCCTACCTTGACGTACACGTTCCCCACCAGGTGGTCTCCCAGGTTGTCACAGACGTTCATCTCCTCTACTTCCCCATACTTCTCCTCCATTTCTGTAAAAACCTCCTGAAGGGAGACCACAGTAGTTTAAGACTCGTTATACATTA 43095407 43095577 43095554 43095555 43095555 upstr_intron -19 -0.4390244 TAATGTATAACGAGTCTTAAACTACTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC TAATGTATAACGAGTCTTAAACCACTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC mutant NA NA NA NA NA 753 330 0.9709706 0.9846955 0.977833 0.8170694 0.85 0.9656738 1 NA NA 0.005296717 -0.01530453 0.8335347 0.9828369 NA -0.005003909 NA FALSE NA 0 0.134 . intron_variant&non_coding_transcript_variant MODIFIER U2AF1 HGNC 12453 ENST00000475639 3/6 1 NA TGG G,A 8.236e-06 21:43095555 U2AF1 HGNC Symbol protein_coding 14631 ENSG00000160201 ENSE00003694524 non_coding_transcript_exon_variant -0.275002 0.31076 0.14801 0.256867 0.3975714 0.053292 0.9865956 TRUE 4.06147e-06 ENSE00002362261_014 ENSE00002362261 014 21 44515518 44515687 - 30 99 41 C T 44515676 402 12 GCCACGCCGCCGTCTCGCCCTGGCTCCTACCTTGACGTACACGTTCCCCACCAGGTGGTCTCCCAGGTTGTCACAGACGTTCATCTCCTCTACTTCCCCATACTTCTCCTCCATTTCTGTAAAAACCTCCTGAAGGGAGACCACAGTGGTTTAAGACTTGTTATACATTA 43095407 43095577 43095565 43095566 43095566 upstr_intron -30 -0.7073171 TAATGTATAACAAGTCTTAAACCACTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC TAATGTATAACGAGTCTTAAACCACTGTGGTCTCCCTTCAGGAGGTTTTTACAGAAATGGAGGAGAAGTATGGGGAAGTAGAGGAGATGAACGTCTGTGACAACCTGGGAGACCACCTGGTGGGGAACGTGTACGTCAAGGTAGGAGCCAGGGCGAGACGGCGGCGTGGC mutant NA NA NA NA NA 44 599 0.9513739 1 0.975687 0.8170694 0.85 0.9656738 1 NA NA -0.0142999 0 0.8335347 0.9828369 NA -0.007149949 NA FALSE NA 0 -0.865 . intron_variant&non_coding_transcript_variant MODIFIER U2AF1 HGNC 12453 ENST00000475639 3/6 rs373191046 1 NA T:0.0005 T:0 TCG C,T 1.647e-05 21:43095566 U2AF1 HGNC Symbol protein_coding 14631 ENSG00000160201 ENSE00003694524 non_coding_transcript_exon_variant -0.130713 0.27127 0.14403 0.256867 0.4290841 0.0532545 0.9865956 TRUE 2.03136e-05 ENSE00002362572_000 ENSE00002362572 000 11 13387003 13387172 + 44 93 33 NA NA NA NA NA TTTCCTACAGTATGAGAAATTGATTATCCATTTCTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC 13365455 13365625 NA NA NA NA NA NA TTTCCTACAGTATGAGAAATTGATTATCCATTTCTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC TTTCCTACAGTATGAGAAATTGATTATCCATTTCTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC natural 29 53 0.8982719 0.8815411 0.8899065 1437 2058 0.9841977 0.9608118 0.9725048 0.8982719 0.8815411 0.9841977 0.9608118 0 0 0 0 0.8899065 0.9725048 0 0 0 FALSE FALSE NA NA NA NA NA ARNTL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARNTL NA NA NA ENSG00000133794 ENSE00003790235 NA NA NA NA NA NA NA 0.987643 TRUE NA ENSE00002362572_005 ENSE00002362572 005 11 13387003 13387172 + 44 93 33 C T 13387036 519 34 TTTCCTACAGTATGAGAAATTGATTATCCATTTTTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC 13365455 13365625 13365488 13365489 13365489 upstr_intron -11 -0.2272727 TTTCCTACAGTATGAGAAATTGATTATCCATTTTTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC TTTCCTACAGTATGAGAAATTGATTATCCATTTCTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC mutant NA NA NA NA NA 21 672 1 0.9700925 0.9850462 0.8982719 0.8815411 0.9841977 0.9608118 NA NA 0.01580226 0.009280658 0.8899065 0.9725048 NA 0.01254146 NA FALSE NA 0.974 0.227 . intron_variant&non_coding_transcript_variant MODIFIER ARNTL HGNC 701 ENST00000497429 2/5 1 NA TCT C,T 8.236e-06 11:13365489 ARNTL HGNC Symbol protein_coding 110614 ENSG00000133794 ENSE00003790235 non_coding_transcript_exon_variant 1.693416 0.96367 0.83267 0.163922 0.7746256 0.622476 0.987643 TRUE 4.0803e-06 ENSE00002362572_006 ENSE00002362572 006 11 13387003 13387172 + 44 93 33 C T 13387038 520 36 TTTCCTACAGTATGAGAAATTGATTATCCATTTCTTCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC 13365455 13365625 13365490 13365491 13365491 upstr_intron -9 -0.1818182 TTTCCTACAGTATGAGAAATTGATTATCCATTTCTTCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC TTTCCTACAGTATGAGAAATTGATTATCCATTTCTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC mutant 13 31 0.85 0.85 0.85 NA NA NA NA NA 0.8982719 0.8815411 0.9841977 0.9608118 -0.04827193 -0.03154113 NA NA 0.8899065 0.9725048 -0.03990653 NA NA NA FALSE 1 4.09 . intron_variant&non_coding_transcript_variant MODIFIER ARNTL HGNC 701 ENST00000497429 2/5 1 NA TCC C,T 8.236e-06 11:13365491 ARNTL HGNC Symbol protein_coding 110614 ENSG00000133794 ENSE00003790235 non_coding_transcript_exon_variant 2.503138 0.98917 0.98501 0.163922 0.8178457 0.981289 0.987643 TRUE 4.0807e-06 ENSE00002362572_011 ENSE00002362572 011 11 13387003 13387172 + 44 93 33 G A 13387071 525 69 TTTCCTACAGTATGAGAAATTGATTATCCATTTCTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCATAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC 13365455 13365625 13365523 13365524 13365524 exon 25 0.2688172 TTTCCTACAGTATGAGAAATTGATTATCCATTTCTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCATAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC TTTCCTACAGTATGAGAAATTGATTATCCATTTCTCCTGATTAGGCAGCAGATGGATTTTTGTTTGTCGTAGGATGTGACCGAGGGAAGATACTCTTTGTCTCAGAGTCTGTCTTCAAGATCCTCAACTACAGCCAGGTATTGTTCATGCTCCTGTTGATGGTGGGCAGC mutant 68 91 0.85 0.85 0.85 NA NA NA NA NA 0.8982719 0.8815411 0.9841977 0.9608118 -0.04827193 -0.03154113 NA NA 0.8899065 0.9725048 -0.03990653 NA NA NA FALSE 1 7.934 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARNTL HGNC 701 ENST00000497429 3/6 rs557834190 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 CGT G,A 0.0002636 11:13365524 ARNTL HGNC Symbol protein_coding 110614 ENSG00000133794 ENSE00003790235 missense_variant 6.480195 0.99427 0.98553 0.6512 0.9986886 0 0.987643 TRUE 0.000288989 ENSE00002362598_000 ENSE00002362598 000 2 131126650 131126819 + 56 69 45 NA NA NA NA NA CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC 130369076 130369246 NA NA NA NA NA NA CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC natural NA NA NA NA NA 1922 1995 0.9498382 0.9786461 0.9642421 NA NA 0.9498382 0.9786461 NA NA 0 0 NA 0.9642421 NA 0 NA FALSE NA NA NA NA NA NA PTPN18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN18 NA NA NA ENSG00000072135 ENSE00003531583 NA NA NA NA NA NA NA 6.519227e-07 FALSE NA ENSE00002362598_008 ENSE00002362598 008 2 131126650 131126819 + 56 69 45 G T 131126711 2710 62 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGTTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC 130369076 130369246 130369137 130369138 130369138 exon 6 0.08695652 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGTTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC mutant NA NA NA NA NA 91 39 0.9967907 0.95 0.9733953 NA NA 0.9498382 0.9786461 NA NA 0.0469525 -0.02864606 NA 0.9642421 NA 0.009153221 NA FALSE NA 1 1.12 . upstream_gene_variant MODIFIER PTPN18 HGNC 9649 ENST00000464576 1 NA GGT G,T 1.647e-05 2:130369138 PTPN18 HGNC Symbol protein_coding 19402 ENSG00000072135 ENSE00003531583 missense_variant 4.361606 0.9135 0.74489 0.6512 0.9874645 0 6.519227e-07 FALSE 8.15787e-06 ENSE00002362598_017 ENSE00002362598 017 2 131126650 131126819 + 56 69 45 C T 131126752 2719 103 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGATTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC 130369076 130369246 130369178 130369179 130369179 exon -23 0.6811594 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGATTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC mutant NA NA NA NA NA 31 74 1 1 1 NA NA 0.9498382 0.9786461 NA NA 0.05016181 0.02135394 NA 0.9642421 NA 0.03575788 NA FALSE NA 0.038 0.012 . upstream_gene_variant MODIFIER PTPN18 HGNC 9649 ENST00000464576 1 NA ACT C,T 8.236e-06 2:130369179 PTPN18 HGNC Symbol protein_coding 19402 ENSG00000072135 ENSE00003531583 missense_variant -0.221039 0.29091 0.00217 0.6512 0.0945016 0 6.519227e-07 FALSE 8.13273e-06 ENSE00002362598_019 ENSE00002362598 019 2 131126650 131126819 + 56 69 45 C T 131126762 2721 113 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTTTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC 130369076 130369246 130369188 130369189 130369189 exon -13 0.826087 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTTTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC mutant NA NA NA NA NA 400 1356 0.7894143 0.8 0.7947071 NA NA 0.9498382 0.9786461 NA NA -0.1604239 -0.1786461 NA 0.9642421 NA -0.169535 NA FALSE NA 1 0.497 . upstream_gene_variant MODIFIER PTPN18 HGNC 9649 ENST00000464576 1 NA TCT C,T 8.236e-06 2:130369189 PTPN18 HGNC Symbol protein_coding 19402 ENSG00000072135 ENSE00003531583 synonymous_variant 1.743551 0.90689 0.68004 0.6512 0.7463055 0 6.519227e-07 FALSE 4.06521e-06 ENSE00002362598_020 ENSE00002362598 020 2 131126650 131126819 + 56 69 45 T C 131126771 2722 122 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACCCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC 130369076 130369246 130369197 130369198 130369198 exon -4 0.9565217 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACCCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC mutant NA NA NA NA NA 292 22 0.8243189 0.952944 0.8886314 NA NA 0.9498382 0.9786461 NA NA -0.1255193 -0.02570207 NA 0.9642421 NA -0.07561068 NA FALSE NA 0.001 -0.977 . upstream_gene_variant MODIFIER PTPN18 HGNC 9649 ENST00000464576 1 NA CTC T,C 8.236e-06 2:130369198 PTPN18 HGNC Symbol protein_coding 19402 ENSG00000072135 ENSE00003531583 synonymous_variant -0.888346 0.1566 0.00884 0.6512 0.2964151 0 6.519227e-07 FALSE 1.21974e-05 ENSE00002362598_023 ENSE00002362598 023 2 131126650 131126819 + 56 69 45 T A 131126792 2725 143 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTACAAGGAAGATTCCCAGGGTGGAAAGGC 130369076 130369246 130369218 130369219 130369219 downstr_intron 18 1.409091 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTACAAGGAAGATTCCCAGGGTGGAAAGGC CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC mutant NA NA NA NA NA 27 32 0.8868614 1 0.9434307 NA NA 0.9498382 0.9786461 NA NA -0.06297679 0.02135394 NA 0.9642421 NA -0.02081142 NA FALSE NA 0.244 0.709 rs74348246 upstream_gene_variant MODIFIER PTPN18 HGNC 9649 ENST00000464576 rs74348246 1 A:0.0070 A:0.0265 A:0 NA A:0 A:0 A:0 A:0.012 A:0.0001 TTC T,A 0.001392 2:130369219 PTPN18 HGNC Symbol protein_coding 19402 ENSG00000072135 ENSE00003531583 intron_variant 0.072221 0.21564 0.09964 0.114469 0.6044884 0.173484 6.519227e-07 FALSE 0.00110848 ENSE00002362598_024 ENSE00002362598 024 2 131126650 131126819 + 56 69 45 C T 131126805 2726 156 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCTCAGGGTGGAAAGGC 130369076 130369246 130369231 130369232 130369232 downstr_intron 31 1.704545 CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCTCAGGGTGGAAAGGC CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC mutant NA NA NA NA NA 420 724 0.9686434 0.996394 0.9825187 NA NA 0.9498382 0.9786461 NA NA 0.01880521 0.01774795 NA 0.9642421 NA 0.01827658 NA FALSE NA 0.001 -0.009 rs180978340 upstream_gene_variant MODIFIER PTPN18 HGNC 9649 ENST00000464576 rs180978340 1 T:0.0024 T:0 T:0.0043 NA T:0 T:0.006 T:0.0031 T:0.0016 T:0.0126 CCC C,T 0.008403 2:130369232 PTPN18 HGNC Symbol protein_coding 19402 ENSG00000072135 ENSE00003531583 intron_variant 0.169926 0.17741 0.01408 0.088506 0.5879678 0.113957 6.519227e-07 FALSE 0.00828483 ENSE00002362598_BRK ENSE00002362598 BRK 2 131126650 131126819 + 56 69 45 A,G; T,T NA NA NA CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCTTAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGCCGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC 130369076 130369246 NA NA NA NA NA NA CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCTTAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGCCGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC CTCTGAAGCTGACTCCCTCTTCTCACTCCCTGCCTTTTCTCCCTTACCTTTTGCAGAAAAGGTGTGAGCGGTACTGGGCCCAGGAGCAGGAGCCACTGCAGACTGGGCTTTTCTGCATCACTCTGGTGAGCTGTGGGAGTTTTCAAGGAAGATTCCCAGGGTGGAAAGGC control NA NA NA NA NA 111 82 0 0 0 NA NA 0.9498382 0.9786461 NA NA -0.9498382 -0.9786461 NA 0.9642421 NA -0.9642421 NA TRUE NA NA NA NA NA NA PTPN18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTPN18 NA NA NA ENSG00000072135 ENSE00003531583 NA NA NA NA NA NA NA 6.519227e-07 FALSE NA ENSE00002362664_000 ENSE00002362664 000 21 44190771 44190940 + 42 96 32 NA NA NA NA NA AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 NA NA NA NA NA NA TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT natural NA NA NA NA NA 2013 2049 0.9951375 0.9160639 0.9556007 NA NA 0.9951375 0.9160639 NA NA 0 0 NA 0.9556007 NA 0 NA FALSE NA NA NA NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE9A NA NA NA ENSG00000160191 ENSE00003490275 NA NA NA NA NA NA NA 0.002017364 FALSE NA ENSE00002362664_001 ENSE00002362664 001 21 44190771 44190940 + 42 96 32 G A 44190782 362 12 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTTCCTCGTTCTTA 42770660 42770830 42770671 42770672 42770672 upstr_intron -31 -0.7142857 TAAGAACGAGGAACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 655 42 0.999766 0.9528119 0.9762889 NA NA 0.9951375 0.9160639 NA NA 0.004628433 0.036748 NA 0.9556007 NA 0.02068822 NA FALSE NA 0 0.73 . intron_variant MODIFIER PDE9A HGNC 8795 ENST00000335512 16/18 1 NA GGA G,A 8.236e-06 21:42770672 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 intron_variant -0.029456 0.13356 0.00252 0.080785 0.5416398 0.048903 0.002017364 FALSE 4.06683e-06 ENSE00002362664_006 ENSE00002362664 006 21 44190771 44190940 + 42 96 32 G A 44190831 367 61 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTTCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770720 42770721 42770721 exon 19 0.1979167 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGAAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 18 685 1 0.9971154 0.9985577 NA NA 0.9951375 0.9160639 NA NA 0.004862466 0.08105154 NA 0.9556007 NA 0.042957 NA FALSE NA 1 9.253 . missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 COSM125279 1 deleterious(0.04) benign(0.037) NA GGA G,A 8.237e-06 21:42770721 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 3.004725 0.99454 0.99141 0.706548 0.9774672 0 0.002017364 FALSE 4.06098e-06 ENSE00002362664_008 ENSE00002362664 008 21 44190771 44190940 + 42 96 32 A T 44190837 369 67 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCAAGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770726 42770727 42770727 exon 25 0.2604167 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCTTGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 877 151 0.9996711 0.98698 0.9933255 NA NA 0.9951375 0.9160639 NA NA 0.004533527 0.07091615 NA 0.9556007 NA 0.03772484 NA FALSE NA 1 8.76 NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:42770727 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 2.016485 0.99328 0.99116 0.706548 0.7244476 0 0.002017364 FALSE 4.06075e-06 ENSE00002362664_009 ENSE00002362664 009 21 44190771 44190940 + 42 96 32 T C 44190851 370 81 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAGAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770740 42770741 42770741 exon 39 0.40625 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTCTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 228 192 1 0.9923123 0.9961561 NA NA 0.9951375 0.9160639 NA NA 0.004862466 0.07624841 NA 0.9556007 NA 0.04055544 NA FALSE NA 0 -2.734 rs147992352 synonymous_variant LOW PDE9A HGNC 8795 ENST00000335512 17/19 rs147992352 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 TTT T,C 1.647e-05 21:42770741 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 synonymous_variant -0.830178 0.07994 0.02567 0.706548 0.4379389 0 0.002017364 FALSE 1.2182e-05 ENSE00002362664_010 ENSE00002362664 010 21 44190771 44190940 + 42 96 32 T G 44190852 371 82 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCCAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770741 42770742 42770742 exon 40 0.4166667 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTGGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 146 432 1 1 1 NA NA 0.9951375 0.9160639 NA NA 0.004862466 0.08393612 NA 0.9556007 NA 0.04439929 NA FALSE NA 0.986 2.254 . missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 1 tolerated(0.1) benign(0.068) NA TTG T,G 8.236e-06 21:42770742 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 1.588497 0.93037 0.84389 0.706548 0.7932272 0 0.002017364 FALSE 3.65473e-05 ENSE00002362664_012 ENSE00002362664 012 21 44190771 44190940 + 42 96 32 G A 44190873 373 103 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTTGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770762 42770763 42770763 exon -36 0.6354167 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACAAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 556 96 0.999183 0.9950724 0.9971277 NA NA 0.9951375 0.9160639 NA NA 0.004045423 0.07900849 NA 0.9556007 NA 0.04152696 NA FALSE NA 1 7.287 . missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 1 deleterious(0.05) possibly_damaging(0.735) NA CGA G,A 1.647e-05 21:42770763 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 5.185041 0.99377 0.98163 0.706548 0.9946422 0 0.002017364 FALSE 1.2184e-05 ENSE00002362664_013 ENSE00002362664 013 21 44190771 44190940 + 42 96 32 A G 44190874 374 104 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCCCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770763 42770764 42770764 exon -35 0.6458333 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGGGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 64 69 0.9834708 1 0.9917354 NA NA 0.9951375 0.9160639 NA NA -0.01166672 0.08393612 NA 0.9556007 NA 0.0361347 NA FALSE NA 1 8.76 . missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 1 deleterious(0.01) probably_damaging(0.989) NA GAG A,G 8.236e-06 21:42770764 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 5.885012 0.99219 0.98974 0.706548 0.9988409 0 0.002017364 FALSE 4.06111e-06 ENSE00002362664_014 ENSE00002362664 014 21 44190771 44190940 + 42 96 32 G T 44190878 375 108 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGATCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770767 42770768 42770768 exon -31 0.6875 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGATCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 2133 27 0.9753068 1 0.9876534 NA NA 0.9951375 0.9160639 NA NA -0.01983071 0.08393612 NA 0.9556007 NA 0.0320527 NA FALSE NA 0.317 -0.486 rs141574765 missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 rs141574765 1 tolerated(0.14) benign(0.003) NA T:0 T:0.0002 AGC G,T 2.471e-05 21:42770768 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 0.406741 0.87936 0.41637 0.706548 0.9725346 0 0.002017364 FALSE 1.62462e-05 ENSE00002362664_015 ENSE00002362664 015 21 44190771 44190940 + 42 96 32 A C 44190882 376 112 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTGCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770771 42770772 42770772 exon -27 0.7291667 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGCAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 1317 1576 0.9993105 0.9605144 0.9799124 NA NA 0.9951375 0.9160639 NA NA 0.004172979 0.0444505 NA 0.9556007 NA 0.02431174 NA FALSE NA 1 6.928 . missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 rs373298228 1 tolerated(0.1) benign(0.009) NA GAA A,C 8.236e-06 21:42770772 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 1.76992 0.99237 0.98355 0.706548 0.8962907 0 0.002017364 FALSE 4.06147e-06 ENSE00002362664_016 ENSE00002362664 016 21 44190771 44190940 + 42 96 32 C T 44190885 377 115 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCACTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770774 42770775 42770775 exon -24 0.7604167 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGTGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 175 398 0.995921 0.9870667 0.9914939 NA NA 0.9951375 0.9160639 NA NA 0.0007834753 0.07100283 NA 0.9556007 NA 0.03589315 NA FALSE NA 1 3.514 . missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 1 deleterious(0) benign(0.431) NA GCG C,T 8.236e-06 21:42770775 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 6.683374 0.9887 0.94536 0.706548 0.9988485 0 0.002017364 FALSE 4.06194e-05 ENSE00002362664_017 ENSE00002362664 017 21 44190771 44190940 + 42 96 32 G A 44190886 378 116 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCTGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770775 42770776 42770776 exon -23 0.7708333 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCAGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 310 942 1 0.9940473 0.9970237 NA NA 0.9951375 0.9160639 NA NA 0.004862466 0.07798342 NA 0.9556007 NA 0.04142295 NA FALSE NA 1 5.489 rs150892798 missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 rs150892798 1 tolerated(1) benign(0) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 CGG G,A 0.0001977 21:42770776 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 1.047638 0.95458 0.30721 0.706548 0.1690784 0 0.002017364 FALSE 0.000158426 ENSE00002362664_019 ENSE00002362664 019 21 44190771 44190940 + 42 96 32 C T 44190896 380 126 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGCATCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770785 42770786 42770786 exon -13 0.875 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGATGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 64 310 0.9975969 0.951251 0.9744239 NA NA 0.9951375 0.9160639 NA NA 0.002459351 0.0351871 NA 0.9556007 NA 0.01882322 NA FALSE NA 0 -3.132 rs138550222 synonymous_variant LOW PDE9A HGNC 8795 ENST00000335512 17/19 rs138550222 1 NA T:0.0002 T:0 ACG C,T 3.295e-05 21:42770786 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 synonymous_variant 1.23251 0.28799 0.01665 0.706548 0.4225586 0 0.002017364 FALSE 2.84426e-05 ENSE00002362664_020 ENSE00002362664 020 21 44190771 44190940 + 42 96 32 G A 44190897 381 127 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCATGGTGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770786 42770787 42770787 exon -12 0.8854167 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACACCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 420 286 0.9920976 1 0.9960488 NA NA 0.9951375 0.9160639 NA NA -0.003039948 0.08393612 NA 0.9556007 NA 0.04044808 NA FALSE NA 1 4.407 . missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 17/19 rs201811895 1 tolerated(0.1) benign(0.004) NA CGC G,A 3.295e-05 21:42770787 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 3.928927 0.9789 0.94366 0.706548 0.9909114 0 0.002017364 FALSE 2.03188e-05 ENSE00002362664_022 ENSE00002362664 022 21 44190771 44190940 + 42 96 32 T C 44190901 383 131 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCTTTCGTGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770790 42770791 42770791 exon -8 0.9270833 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCACGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 134 954 1 0.9914404 0.9957202 NA NA 0.9951375 0.9160639 NA NA 0.004862466 0.07537652 NA 0.9556007 NA 0.04011949 NA FALSE NA 0.999 3.125 NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:42770791 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 missense_variant 0.201283 0.60689 0.80085 0.706548 0.4430105 0 0.002017364 FALSE 2.03204e-05 ENSE00002362664_023 ENSE00002362664 023 21 44190771 44190940 + 42 96 32 A G 44190905 384 135 AAGGAAGGCAGGCTCTTCTCAGTGTGTTTTACCTCCTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770794 42770795 42770795 exon -4 0.96875 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAGGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 505 216 1 1 1 NA NA 0.9951375 0.9160639 NA NA 0.004862466 0.08393612 NA 0.9556007 NA 0.04439929 NA FALSE NA 0.008 -0.133 . synonymous_variant LOW PDE9A HGNC 8795 ENST00000335512 17/19 1 NA AAG A,G 8.236e-06 21:42770795 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 synonymous_variant 0.251763 0.21208 0.04535 0.706548 0.46801 0 0.002017364 FALSE NA ENSE00002362664_024 ENSE00002362664 024 21 44190771 44190940 + 42 96 32 A G 44190913 385 143 AAGGAAGGCAGGCTCTTCTCAGTGTGTCTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770802 42770803 42770803 downstr_intron 5 1.16129 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAGACACACTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 453 465 0.9913306 1 0.9956653 NA NA 0.9951375 0.9160639 NA NA -0.003806891 0.08393612 NA 0.9556007 NA 0.04006461 NA FALSE NA 0 -0.881 . splice_region_variant&intron_variant LOW PDE9A HGNC 8795 ENST00000335512 17/18 1 NA AAA A,G 8.236e-06 21:42770803 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 splice_region_variant -0.359134 0.1462 0.01185 0.099367 0.5126694 0.0962789 0.002017364 FALSE 4.06742e-06 ENSE00002362664_025 ENSE00002362664 025 21 44190771 44190940 + 42 96 32 C T 44190919 386 149 AAGGAAGGCAGGCTCTTCTCAATGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770808 42770809 42770809 downstr_intron 11 1.354839 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACATTGAGAAGAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 2336 92 0.9952426 0.9764946 0.9858686 NA NA 0.9951375 0.9160639 NA NA 0.0001051087 0.06043075 NA 0.9556007 NA 0.03026793 NA FALSE NA 0.003 0.864 . intron_variant MODIFIER PDE9A HGNC 8795 ENST00000335512 17/18 1 NA ACT C,T 1.647e-05 21:42770809 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 intron_variant -0.091153 0.11415 0.0019 0.062308 0.4722826 0.082032 0.002017364 FALSE 1.62906e-05 ENSE00002362664_026 ENSE00002362664 026 21 44190771 44190940 + 42 96 32 G A 44190926 387 156 AAGGAAGGCAGGCTTTTCTCAGTGTGTTTTACCTCTTTCATGGCGTCATCTATCCGCTTCAGCTCCTCGTAGCGATCTCGGGATTCCCAAAGTGGCTGCAGCATGATCTCCTCAACCATGGGGAAGAGCTGGGAGAGACACACGGATTTATTCAGAGTCCCTCGTTCTTA 42770660 42770830 42770815 42770816 42770816 downstr_intron 18 1.580645 TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAAAGCCTGCCTTCCTT TAAGAACGAGGGACTCTGAATAAATCCGTGTGTCTCTCCCAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGGTAAAACACACTGAGAAGAGCCTGCCTTCCTT mutant NA NA NA NA NA 633 25 1 0.998463 0.9992315 NA NA 0.9951375 0.9160639 NA NA 0.004862466 0.08239917 NA 0.9556007 NA 0.04363082 NA FALSE NA 0.001 -3.939 . intron_variant MODIFIER PDE9A HGNC 8795 ENST00000335512 17/18 1 NA AGA G,A 8.237e-06 21:42770816 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003490275 intron_variant -0.508698 0.12416 0.00284 0.099367 0.4749702 0.0476178 0.002017364 FALSE 4.0777e-06 ENSE00002362991_000 ENSE00002362991 000 2 225781377 225781546 - 35 90 45 NA NA NA NA NA ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 NA NA NA NA NA NA ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC natural NA NA NA NA NA 2535 3466 0.9913244 0.8518436 0.921584 NA NA 0.9913244 0.8518436 NA NA 0 0 NA 0.921584 NA 0 NA FALSE NA NA NA NA NA NA DOCK10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK10 NA NA NA ENSG00000135905 ENSE00003615701 NA NA NA NA NA NA NA 0.02919253 FALSE NA ENSE00002362991_001 ENSE00002362991 001 2 225781377 225781546 - 35 90 45 A T 225781387 4914 160 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTAATTTTAAGGC 224916659 224916829 224916669 224916670 224916670 downstr_intron 25 1.735294 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTAATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 69 202 0.999402 0.9902514 0.9948267 NA NA 0.9913244 0.8518436 NA NA 0.008077678 0.1384078 NA 0.921584 NA 0.07324275 NA FALSE NA 0 -3.53 . intron_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/4 1 NA TAA A,T 8.289e-06 2:224916670 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 intron_variant -0.115862 0.21594 0.01653 0.156188 0.6752115 0.046875 0.02919253 FALSE NA ENSE00002362991_002 ENSE00002362991 002 2 225781377 225781546 - 35 90 45 T C 225781393 4915 154 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAGTGCTTTATTTTAAGGC 224916659 224916829 224916675 224916676 224916676 downstr_intron 19 1.558824 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAGTGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 246 1965 0.9917238 0.9945408 0.9931323 NA NA 0.9913244 0.8518436 NA NA 0.0003994735 0.1426972 NA 0.921584 NA 0.07154834 NA FALSE NA 0 -2.056 rs77982509 intron_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/4 rs77982509 1 C:0.0114 C:0.0386 C:0.0072 NA C:0 C:0.001 C:0 C:0.0341 C:0.0007 ATT T,C 0.003338 2:224916676 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 intron_variant -0.02548 0.09983 0.00838 0.156188 0.6536274 0.046875 0.02919253 FALSE 0.00285367 ENSE00002362991_003 ENSE00002362991 003 2 225781377 225781546 - 35 90 45 T G 225781394 4916 153 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCCATGCTTTATTTTAAGGC 224916659 224916829 224916676 224916677 224916677 downstr_intron 18 1.529412 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCCATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 807 21 0.9992325 1 0.9996163 NA NA 0.9913244 0.8518436 NA NA 0.007908181 0.1481564 NA 0.921584 NA 0.0780323 NA FALSE NA 0 -2.143 . intron_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/4 1 NA TTG T,G 8.282e-06 2:224916677 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 intron_variant 0.839914 0.14068 0.02198 0.156188 0.655833 0.132075 0.02919253 FALSE 4.53729e-06 ENSE00002362991_004 ENSE00002362991 004 2 225781377 225781546 - 35 90 45 C A 225781403 4917 144 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTTATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 224916685 224916686 224916686 downstr_intron 9 1.264706 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTTATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 472 926 1 0.9941653 0.9970826 NA NA 0.9913244 0.8518436 NA NA 0.008675635 0.1423217 NA 0.921584 NA 0.07549866 NA FALSE NA 0 -0.122 . intron_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/4 rs371898268 1 NA A:0.0003 A:0 TCA C,A 1.656e-05 2:224916686 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 intron_variant 1.697096 0.18511 0.05741 0.156188 0.7336705 0.182857 0.02919253 FALSE NA ENSE00002362991_006 ENSE00002362991 006 2 225781377 225781546 - 35 90 45 A G 225781426 4919 121 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATCTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 224916708 224916709 224916709 exon -15 0.8444444 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATCTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 763 781 0.7612873 0.8891116 0.8251995 NA NA 0.9913244 0.8518436 NA NA -0.2300371 0.03726806 NA 0.921584 NA -0.0963845 NA FALSE NA 0.844 1.261 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/5 1 NA AAA A,G 8.277e-06 2:224916709 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 synonymous_variant 0.054264 0.95316 0.4766 0.706298 0.7786261 0 0.02919253 FALSE NA ENSE00002362991_009 ENSE00002362991 009 2 225781377 225781546 - 35 90 45 T C 225781443 4922 104 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGGGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 224916725 224916726 224916726 exon -32 0.6555556 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGGGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 122 21 1 1 1 NA NA 0.9913244 0.8518436 NA NA 0.008675635 0.1481564 NA 0.921584 NA 0.07841603 NA FALSE NA 1 1.228 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/5 1 NA CTC T,C 8.276e-06 2:224916726 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 missense_variant 2.503417 0.96946 0.62794 0.706298 0.9987465 0 0.02919253 FALSE 2.06627e-05 ENSE00002362991_011 ENSE00002362991 011 2 225781377 225781546 - 35 90 45 C T 225781472 4924 75 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACATTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 224916754 224916755 224916755 exon 30 0.3333333 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACATTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 130 1385 0.9840623 0.9995551 0.9918087 NA NA 0.9913244 0.8518436 NA NA -0.007262102 0.1477115 NA 0.921584 NA 0.0702247 NA FALSE NA 0.001 -1.565 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/5 1 NA ACG C,T 3.31e-05 2:224916755 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 synonymous_variant 2.057334 0.11467 0.00358 0.706298 0.631671 0 0.02919253 FALSE 2.49172e-05 ENSE00002362991_014 ENSE00002362991 014 2 225781377 225781546 - 35 90 45 G A 225781488 4927 59 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTTCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 224916770 224916771 224916771 exon 14 0.1555556 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTTCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 573 508 1 0.9013016 0.9506508 NA NA 0.9913244 0.8518436 NA NA 0.008675635 0.04945802 NA 0.921584 NA 0.02906683 NA FALSE NA 0.983 5.903 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/5 1 NA GGA G,A 8.273e-06 2:224916771 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 missense_variant 3.845433 0.9785 0.91077 0.706298 0.994367 0 0.02919253 FALSE NA ENSE00002362991_015 ENSE00002362991 015 2 225781377 225781546 - 35 90 45 A C 225781489 4928 58 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTGCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 224916771 224916772 224916772 exon 13 0.1444444 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTGCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 822 102 0.9696675 1 0.9848337 NA NA 0.9913244 0.8518436 NA NA -0.02165688 0.1481564 NA 0.921584 NA 0.06324977 NA FALSE NA 0.001 -0.391 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 3/5 1 NA GAA A,C 8.273e-06 2:224916772 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 missense_variant 0.332763 0.79853 0.05914 0.706298 0.8861837 0 0.02919253 FALSE 4.19403e-06 ENSE00002362991_016 ENSE00002362991 016 2 225781377 225781546 - 35 90 45 G A 225781509 4929 38 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTTGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 224916791 224916792 224916792 upstr_intron -8 -0.1555556 ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTTGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 422 571 0.995167 1 0.9975835 NA NA 0.9913244 0.8518436 NA NA 0.00384262 0.1481564 NA 0.921584 NA 0.07599952 NA FALSE NA 0.044 0.446 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DOCK10 HGNC 23479 ENST00000474102 2/4 rs372354079 1 NA A:0.0003 A:0 CGA G,A 3.31e-05 2:224916792 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 splice_region_variant 0.181498 0.17199 0.03186 0.099367 0.3076883 0.22163 0.02919253 FALSE NA ENSE00002362991_018 ENSE00002362991 018 2 225781377 225781546 - 35 90 45 C T 225781535 4931 12 ACTTCTAAGCCAGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC 224916659 224916829 224916817 224916818 224916818 upstr_intron -34 -0.7333333 ACTTCTAAGCCAGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC ACTTCTAAGCCGGAGGACTCAATTTCTTTTCATTGTTCGTTTCAGGCAGCCACAGTTTCCTGGGATATCCGCACGTTGTACTCAACAGTACCTGAAGATGCAGAGCACAAGGCAGAAAATTTACTGGTTAAGGAGGTAAATGTGATGCTTCCAATGCTTTATTTTAAGGC mutant NA NA NA NA NA 141 483 0.9989114 1 0.9994557 NA NA 0.9913244 0.8518436 NA NA 0.007587039 0.1481564 NA 0.921584 NA 0.07787173 NA FALSE NA 0 -0.047 . intron_variant&non_coding_transcript_variant MODIFIER DOCK10 HGNC 23479 ENST00000474102 2/4 1 NA CCG C,T 8.302e-06 2:224916818 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00003615701 intron_variant 0.007922 0.15886 0.02933 0.099367 0.778395 0.0698953 0.02919253 FALSE 2.53552e-05 ENSE00002363362_000 ENSE00002363362 000 4 114117483 114117652 + 41 99 30 NA NA NA NA NA ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 NA NA NA NA NA NA ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT natural 59 69 0.9949135 0.9952285 0.995071 21072 16019 0.9666179 0.9427989 0.9547084 0.9949135 0.9952285 0.9666179 0.9427989 0 0 0 0 0.995071 0.9547084 0 0 0 FALSE FALSE NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00003789136 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002363362_001 ENSE00002363362 001 4 114117483 114117652 + 41 99 30 A T 114117500 1291 18 ATTACTTCACTTCTTAATGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196343 113196344 113196344 upstr_intron -24 -0.5609756 ATTACTTCACTTCTTAATGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 442 997 1 0.9998413 0.9999207 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.03338208 0.05704246 0.995071 0.9547084 NA 0.04521227 NA FALSE NA 0.046 0.93 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000511380 2/2 1 NA AAG A,T 8.24e-06 4:113196344 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 intron_variant -0.12012 0.21377 0.12057 0.080754 0.7408026 0.21775 1 TRUE NA ENSE00002363362_002 ENSE00002363362 002 4 114117483 114117652 + 41 99 30 C T 114117502 1292 20 ATTACTTCACTTCTTAAAGTCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196345 113196346 113196346 upstr_intron -22 -0.5121951 ATTACTTCACTTCTTAAAGTCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 914 3691 0.996799 0.9941346 0.9954668 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.03018106 0.05133568 0.995071 0.9547084 NA 0.04075837 NA FALSE NA 0 0.111 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000511380 2/2 1 NA GCC C,T 1.648e-05 4:113196346 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 intron_variant -0.127873 0.12786 0.02291 0.080754 0.5722836 0.152352 1 TRUE 8.31297e-06 ENSE00002363362_004 ENSE00002363362 004 4 114117483 114117652 + 41 99 30 C A 114117514 1294 32 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTATTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196357 113196358 113196358 upstr_intron -10 -0.2195122 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTATTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 611 1433 0.82396 0.9993944 0.9116772 0.9949135 0.9952285 0.9666179 0.9427989 NA NA -0.1426579 0.05659554 0.995071 0.9547084 NA -0.04303119 NA FALSE NA 0.891 0.213 . intron_variant MODIFIER ANK2 HGNC 493 ENST00000511380 2/2 rs370724614 1 NA A:0 A:0.0001 TCT C,A 4.119e-05 4:113196358 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 intron_variant 0.866424 0.29326 0.57817 0.074636 0.7442103 0.224604 1 TRUE 4.11492e-05 ENSE00002363362_005 ENSE00002363362 005 4 114117483 114117652 + 41 99 30 C T 114117535 1295 53 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAATGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196378 113196379 113196379 exon 12 0.1212121 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAATGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 1039 2701 0.998037 0.9968039 0.9974205 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.03141908 0.05400505 0.995071 0.9547084 NA 0.04271206 NA FALSE NA 0.916 -0.079 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:113196379 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 synonymous_variant 2.139576 0.9397 0.24108 0.538911 0.7503755 0 1 TRUE 0.000151376 ENSE00002363362_006 ENSE00002363362 006 4 114117483 114117652 + 41 99 30 C A 114117535 1296 53 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAAAGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196378 113196379 113196379 exon 12 0.1212121 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAAAGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 577 2319 0.9981307 0.9999836 0.9990571 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.03151278 0.05718471 0.995071 0.9547084 NA 0.04434874 NA FALSE NA 0.916 -0.079 NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00003789136 missense_variant 5.920404 0.95993 0.71907 0.538911 0.9910824 0 1 TRUE 8.1825e-06 ENSE00002363362_007 ENSE00002363362 007 4 114117483 114117652 + 41 99 30 A C 114117559 1297 77 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGACGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196402 113196403 113196403 exon 36 0.3636364 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGACGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 1950 2493 0.9987481 0.9592177 0.9789829 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.03213022 0.01641886 0.995071 0.9547084 NA 0.02427454 NA FALSE NA 1 1.531 . missense_variant MODERATE ANK2 HGNC 493 ENST00000511380 3/3 1 tolerated(0.21) probably_damaging(0.998) NA AAG A,C 8.238e-06 4:113196403 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 missense_variant 4.048764 0.97141 0.82632 0.752111 0.9938849 0 1 TRUE 8.16307e-06 ENSE00002363362_008 ENSE00002363362 008 4 114117483 114117652 + 41 99 30 G A 114117566 1298 84 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACATGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196409 113196410 113196410 exon 43 0.4343434 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACATGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 913 3075 0.9949106 0.998875 0.9968928 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.0282927 0.05607609 0.995071 0.9547084 NA 0.0421844 NA FALSE NA 1 4.141 . missense_variant MODERATE ANK2 HGNC 493 ENST00000511380 3/3 1 deleterious(0.04) possibly_damaging(0.59) NA CGT G,A 3.295e-05 4:113196410 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 missense_variant 6.226183 0.97836 0.88828 0.752111 0.9988072 0 1 TRUE 3.67554e-05 ENSE00002363362_009 ENSE00002363362 009 4 114117483 114117652 + 41 99 30 G A 114117568 1299 86 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTAGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196411 113196412 113196412 exon 45 0.4545455 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTAGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 2326 1459 0.9202778 0.9988175 0.9595476 0.9949135 0.9952285 0.9666179 0.9427989 NA NA -0.04634015 0.05601862 0.995071 0.9547084 NA 0.004839236 NA FALSE NA 1 2.195 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:113196412 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 synonymous_variant 1.725334 0.97246 0.83809 0.538911 0.7789213 0 1 TRUE 0.000351124 ENSE00002363362_010 ENSE00002363362 010 4 114117483 114117652 + 41 99 30 G T 114117568 1300 86 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTTGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196411 113196412 113196412 exon 45 0.4545455 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTTGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 1919 890 0.9991729 0.9981732 0.9986731 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.032555 0.05537434 0.995071 0.9547084 NA 0.04396467 NA FALSE NA 1 2.195 NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00003789136 synonymous_variant 1.483394 0.97289 0.86336 0.538911 0.7645776 0 1 TRUE 8.16567e-06 ENSE00002363362_011 ENSE00002363362 011 4 114117483 114117652 + 41 99 30 G A 114117598 1301 116 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGATCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196441 113196442 113196442 exon -25 0.7575758 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGATCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 628 381 1 0.9995847 0.9997923 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.03338208 0.05678579 0.995071 0.9547084 NA 0.04508393 NA FALSE NA 0.001 -1.915 rs145502481 synonymous_variant LOW ANK2 HGNC 493 ENST00000511380 3/3 rs145502481 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.002 A:0 GGT G,A 0.00014 4:113196442 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 synonymous_variant 1.017072 0.20234 0.03452 0.638212 0.7273437 0 1 TRUE 0.000114765 ENSE00002363362_012 ENSE00002363362 012 4 114117483 114117652 + 41 99 30 C T 114117603 1302 121 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTTTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196446 113196447 113196447 exon -20 0.8080808 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTTTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 484 1861 0.991654 0.9986361 0.9951451 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.02503606 0.05583726 0.995071 0.9547084 NA 0.04043666 NA FALSE NA 0.036 3.613 . missense_variant MODERATE ANK2 HGNC 493 ENST00000511380 3/3 1 deleterious(0.04) possibly_damaging(0.857) NA TCT C,T 1.648e-05 4:113196447 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 missense_variant 6.226483 0.67518 0.33703 0.638212 0.9979993 0 1 TRUE 8.2085e-06 ENSE00002363362_014 ENSE00002363362 014 4 114117483 114117652 + 41 99 30 G A 114117608 1304 126 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGAATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196451 113196452 113196452 exon -15 0.8585859 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGAATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 1816 2613 0.9206851 0.9997206 0.9602029 0.9949135 0.9952285 0.9666179 0.9427989 NA NA -0.0459328 0.05692172 0.995071 0.9547084 NA 0.005494459 NA FALSE NA 1 7.675 . missense_variant MODERATE ANK2 HGNC 493 ENST00000511380 3/3 rs372103163 1 tolerated(0.05) possibly_damaging(0.773) NA A:0 A:0.0001 GGA G,A 8.238e-06 4:113196452 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 missense_variant 7.072078 0.99402 0.97983 0.638212 0.9987724 0 1 TRUE 4.10627e-06 ENSE00002363362_015 ENSE00002363362 015 4 114117483 114117652 + 41 99 30 A T 114117609 1305 127 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGTTTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 113196452 113196453 113196453 exon -14 0.8686869 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGTTTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 773 499 0.9170686 0.9945579 0.9558133 0.9949135 0.9952285 0.9666179 0.9427989 NA NA -0.04954932 0.05175903 0.995071 0.9547084 NA 0.001104853 NA FALSE NA 1 9.004 . missense_variant MODERATE ANK2 HGNC 493 ENST00000511380 3/3 1 deleterious(0) probably_damaging(0.997) NA GAT A,T 1.648e-05 4:113196453 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 missense_variant 6.616119 0.9922 0.98531 0.638212 0.9942456 0 1 TRUE 8.21396e-06 ENSE00002363362_016 ENSE00002363362 016 4 114117483 114117652 + 41 99 30 G A 114117634 1306 152 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATATTGGTAGAACATTTTTTT 113196326 113196496 113196477 113196478 113196478 downstr_intron 12 1.413793 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATATTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 521 1073 0.9787437 0.9996393 0.9891915 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.01212579 0.05684037 0.995071 0.9547084 NA 0.03448308 NA FALSE NA 0 0.371 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 1 NA TGT G,A 3.297e-05 4:113196478 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 intron_variant 0.187618 0.44292 0.13657 0.061011 0.5789281 0.494751 1 TRUE 1.67156e-05 ENSE00002363362_017 ENSE00002363362 017 4 114117483 114117652 + 41 99 30 G T 114117637 1307 155 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTTGTAGAACATTTTTTT 113196326 113196496 113196480 113196481 113196481 downstr_intron 15 1.517241 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTTGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 369 4386 0.9880364 0.9255959 0.9568162 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.02141849 -0.01720296 0.995071 0.9547084 NA 0.002107766 NA FALSE NA 0 -0.446 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 1 NA TGG G,T 1.649e-05 4:113196481 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 intron_variant -0.266341 0.22809 0.02456 0.061011 0.3823091 0.0775884 1 TRUE 8.4156e-06 ENSE00002363362_018 ENSE00002363362 018 4 114117483 114117652 + 41 99 30 G A 114117638 1308 156 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGATAGAACATTTTTTT 113196326 113196496 113196481 113196482 113196482 downstr_intron 16 1.551724 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGATAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 598 550 0.9964474 0.9968242 0.9966358 0.9949135 0.9952285 0.9666179 0.9427989 NA NA 0.02982951 0.05402533 0.995071 0.9547084 NA 0.04192742 NA FALSE NA 0 -0.255 . downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 1 NA GGT G,A 8.244e-06 4:113196482 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 intron_variant -0.292959 0.20147 0.02404 0.061011 0.4065381 0.0443698 1 TRUE NA ENSE00002363362_019 ENSE00002363362 019 4 114117483 114117652 + 41 99 30 G A 114117641 1309 159 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAAAACATTTTTTT 113196326 113196496 113196484 113196485 113196485 downstr_intron 19 1.655172 ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAAAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT mutant NA NA NA NA NA 2301 1619 0.9042988 0.998762 0.9515304 0.9949135 0.9952285 0.9666179 0.9427989 NA NA -0.06231915 0.05596312 0.995071 0.9547084 NA -0.003178018 NA FALSE NA 0 0.268 rs111878655 downstream_gene_variant MODIFIER ANK2 HGNC 493 ENST00000511380 rs111878655 1 NA AGA G,A 3.298e-05 4:113196485 ANK2 HGNC Symbol protein_coding 565631 ENSG00000145362 ENSE00003789136 intron_variant -0.178755 0.17326 0.02504 0.061011 0.2762777 0.0820078 1 TRUE 2.54352e-05 ENSE00002363362_BRK ENSE00002363362 BRK 4 114117483 114117652 + 41 99 30 A,G; T,T NA NA NA ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCTTAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGCCAACATTTATGTTGGTAGAACATTTTTTT 113196326 113196496 NA NA NA NA NA NA ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCTTAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGCCAACATTTATGTTGGTAGAACATTTTTTT ATTACTTCACTTCTTAAAGCCTTGTTTGTTTCTTCTCTCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGATTCTGCCACTAAGGTAACATTTATGTTGGTAGAACATTTTTTT control 331 186 0.01188746 0.0175896 0.01473853 1678 376 0.01088279 0.0008516221 0.005867204 0.9949135 0.9952285 0.9666179 0.9427989 -0.9830261 -0.9776389 -0.9557351 -0.9419473 0.995071 0.9547084 -0.9803325 -0.9488412 0.03149129 TRUE TRUE NA NA NA NA NA ANK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANK2 NA NA NA ENSG00000145362 ENSE00003789136 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002363582_000 ENSE00002363582 000 7 138863213 138863382 + 48 84 38 NA NA NA NA NA TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 NA NA NA NA NA NA TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT natural 65 102 0.7607993 0.7857959 0.7732976 2651 1549 0.56561 0.7630726 0.6643413 0.7607993 0.7857959 0.56561 0.7630726 0 0 0 0 0.7732976 0.6643413 0 0 0 FALSE FALSE NA NA NA NA NA TTC26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC26 NA NA NA ENSG00000105948 ENSE00003604119 NA NA NA NA NA NA NA 0.007670003 FALSE NA ENSE00002363582_001 ENSE00002363582 001 7 138863213 138863382 + 48 84 38 T C 138863223 2823 11 TTTTATATGTCAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178476 139178477 139178477 upstr_intron -38 -0.7708333 TTTTATATGTCAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 301 621 0.7929467 0.8 0.7964734 0.7607993 0.7857959 0.56561 0.7630726 NA NA 0.2273367 0.03692743 0.7732976 0.6643413 NA 0.1321321 NA FALSE NA 0.968 1.997 . intron_variant MODIFIER TTC26 HGNC 21882 ENST00000478836 11/15 rs376756840 1 NA TTA T,C 5.765e-05 7:139178477 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 intron_variant 0.326076 0.3691 0.83155 0.074636 0.8192003 0.153832 0.007670003 FALSE 0.00010619 ENSE00002363582_003 ENSE00002363582 003 7 138863213 138863382 + 48 84 38 C G 138863238 2825 26 TTTTATATGTTAATTCTCAGTGTGAGCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178491 139178492 139178492 upstr_intron -23 -0.4583333 TTTTATATGTTAATTCTCAGTGTGAGCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 242 442 0.05518388 0.05069855 0.05294121 0.7607993 0.7857959 0.56561 0.7630726 NA NA -0.5104261 -0.712374 0.7732976 0.6643413 NA -0.6114001 NA TRUE NA 0.026 0.512 . intron_variant MODIFIER TTC26 HGNC 21882 ENST00000478836 11/15 1 NA ACC C,G 8.236e-06 7:139178492 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 intron_variant 1.061003 0.82462 0.2352 0.074636 0.7768952 0.234826 0.007670003 FALSE 4.06557e-06 ENSE00002363582_005 ENSE00002363582 005 7 138863213 138863382 + 48 84 38 T C 138863256 2827 44 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTCTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178509 139178510 139178510 upstr_intron -5 -0.08333333 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTCTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 230 1330 0 0.0002404835 0.0001202417 0.7607993 0.7857959 0.56561 0.7630726 NA NA -0.56561 -0.7628321 0.7732976 0.6643413 NA -0.664221 NA TRUE NA 1 3.521 . splice_region_variant&intron_variant LOW TTC26 HGNC 21882 ENST00000478836 11/15 1 NA TTT T,C 8.236e-06 7:139178510 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 splice_region_variant 1.203556 0.98698 0.90147 0.074636 0.9426715 0.972672 0.007670003 FALSE NA ENSE00002363582_006 ENSE00002363582 006 7 138863213 138863382 + 48 84 38 A G 138863265 2828 53 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTGCTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178518 139178519 139178519 exon 5 0.05952381 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTGCTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 993 1359 0.9399861 0.9397532 0.9398696 0.7607993 0.7857959 0.56561 0.7630726 NA NA 0.3743761 0.1766806 0.7732976 0.6643413 NA 0.2755283 NA FALSE NA 1 8.644 rs145696650 missense_variant MODERATE TTC26 HGNC 21882 ENST00000478836 12/16 rs145696650 1 deleterious(0) possibly_damaging(0.759) NA G:0 G:0.0001 TAC A,G 8.236e-06 7:139178519 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 missense_variant 6.026745 0.99358 0.98538 0.638212 0.9976668 0 0.007670003 FALSE NA ENSE00002363582_008 ENSE00002363582 008 7 138863213 138863382 + 48 84 38 A C 138863273 2830 61 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATCATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178526 139178527 139178527 exon 13 0.1547619 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATCATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 206 202 0.9738716 0.9807883 0.97733 0.7607993 0.7857959 0.56561 0.7630726 NA NA 0.4082616 0.2177158 0.7732976 0.6643413 NA 0.3129887 NA FALSE NA 1 8.644 . missense_variant MODERATE TTC26 HGNC 21882 ENST00000478836 12/16 1 deleterious(0) possibly_damaging(0.703) NA TAA A,C 8.236e-06 7:139178527 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 missense_variant 5.684898 0.99368 0.98644 0.638212 0.9944205 0 0.007670003 FALSE 8.12216e-06 ENSE00002363582_009 ENSE00002363582 009 7 138863213 138863382 + 48 84 38 A C 138863274 2831 62 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATACTGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178527 139178528 139178528 exon 14 0.1666667 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATACTGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 453 187 0.9494935 0.95 0.9497468 0.7607993 0.7857959 0.56561 0.7630726 NA NA 0.3838835 0.1869274 0.7732976 0.6643413 NA 0.2854055 NA FALSE NA 1 6.673 . missense_variant MODERATE TTC26 HGNC 21882 ENST00000478836 12/16 1 deleterious(0.02) benign(0.403) NA AAT A,C 8.236e-06 7:139178528 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 missense_variant 4.862993 0.99368 0.97102 0.638212 0.9937999 0 0.007670003 FALSE 4.06108e-06 ENSE00002363582_011 ENSE00002363582 011 7 138863213 138863382 + 48 84 38 C G 138863302 2833 90 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCGCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178555 139178556 139178556 exon 42 0.5 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCGCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 740 844 0.9807296 0.9762133 0.9784714 0.7607993 0.7857959 0.56561 0.7630726 NA NA 0.4151196 0.2131407 0.7732976 0.6643413 NA 0.3141302 NA FALSE NA 0.998 0.393 rs115477146 synonymous_variant LOW TTC26 HGNC 21882 ENST00000478836 12/16 rs115477146 1 G:0.0010 G:0 G:0 NA G:0.005 G:0 G:0 CCC C,G 3.295e-05 7:139178556 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 synonymous_variant 1.207229 0.96101 0.76134 0.638212 0.6650232 0 0.007670003 FALSE 1.21833e-05 ENSE00002363582_013 ENSE00002363582 013 7 138863213 138863382 + 48 84 38 A G 138863327 2835 115 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATGCCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178580 139178581 139178581 exon -18 0.797619 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATGCCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 2968 426 0.8084693 0.8348829 0.8216761 0.7607993 0.7857959 0.56561 0.7630726 NA NA 0.2428593 0.07181029 0.7732976 0.6643413 NA 0.1573348 NA FALSE NA 1 4.77 . missense_variant MODERATE TTC26 HGNC 21882 ENST00000478836 12/16 1 deleterious(0.01) benign(0.217) NA TAC A,G 1.647e-05 7:139178581 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 missense_variant 3.727475 0.98815 0.89939 0.638212 0.9955635 0 0.007670003 FALSE 1.21826e-05 ENSE00002363582_014 ENSE00002363582 014 7 138863213 138863382 + 48 84 38 C A 138863328 2836 116 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATAACAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178581 139178582 139178582 exon -17 0.8095238 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATAACAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 241 16 0.04193527 0 0.02096764 0.7607993 0.7857959 0.56561 0.7630726 NA NA -0.5236747 -0.7630726 0.7732976 0.6643413 NA -0.6433736 NA TRUE NA 1 3.462 . missense_variant MODERATE TTC26 HGNC 21882 ENST00000478836 12/16 1 deleterious(0.01) benign(0.403) NA ACC C,A 8.236e-06 7:139178582 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 missense_variant 4.227193 0.985 0.76892 0.638212 0.9868268 0 0.007670003 FALSE NA ENSE00002363582_016 ENSE00002363582 016 7 138863213 138863382 + 48 84 38 C T 138863338 2838 126 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGTGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178591 139178592 139178592 exon -7 0.9285714 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGTGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 10 25 0.8159948 0.8 0.8079974 0.7607993 0.7857959 0.56561 0.7630726 NA NA 0.2503848 0.03692743 0.7732976 0.6643413 NA 0.1436561 NA FALSE NA 0.98 -0.017 rs138889631 synonymous_variant LOW TTC26 HGNC 21882 ENST00000478836 12/16 rs138889631&COSM172700 1 NA T:0.0005 T:0.0002 GCG C,T 0.0001318 7:139178592 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 synonymous_variant 2.267519 0.94732 0.23338 0.638212 0.6755504 0 0.007670003 FALSE 0.000113722 ENSE00002363582_017 ENSE00002363582 017 7 138863213 138863382 + 48 84 38 G A 138863339 2839 127 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCAAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 139178592 139178593 139178593 exon -6 0.9404762 TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCAAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT mutant NA NA NA NA NA 968 738 0.8 0.7972929 0.7986465 0.7607993 0.7857959 0.56561 0.7630726 NA NA 0.23439 0.03422035 0.7732976 0.6643413 NA 0.1343052 NA FALSE NA 1 9.129 . missense_variant MODERATE TTC26 HGNC 21882 ENST00000478836 12/16 1 deleterious(0.01) benign(0.305) NA CGA G,A 8.236e-06 7:139178593 TTC26 HGNC Symbol protein_coding 58242 ENSG00000105948 ENSE00003604119 missense_variant 7.196114 0.99182 0.98188 0.638212 0.9979174 0 0.007670003 FALSE 4.06147e-06 ENSE00002363582_BRK ENSE00002363582 BRK 7 138863213 138863382 + 48 84 38 A,G; T,T NA NA NA TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCTTAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGCCGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT 139178466 139178636 NA NA NA NA NA NA TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCTTAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGCCGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT TTTTATATGTTAATTCTCAGTGTGACCTGTTCTTGGGATGTTTTTCAGAGTTACTTCTATAATGATGACATCTTTAACTTTAATTATGCCCAAGCCAAAGCTGCAACAGGCAATACCAGTGAGGGCGAAGAGGTGGGTATCTGCTTTTGAGAGCATTTGAATGATTCTAT control NA NA NA NA NA 125 333 0.1388947 0 0.06944737 0.7607993 0.7857959 0.56561 0.7630726 NA NA -0.4267152 -0.7630726 0.7732976 0.6643413 NA -0.5948939 NA TRUE NA NA NA NA NA NA TTC26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC26 NA NA NA ENSG00000105948 ENSE00003604119 NA NA NA NA NA NA NA 0.007670003 FALSE NA ENSE00002363723_000 ENSE00002363723 000 6 30298516 30298685 + 42 96 32 NA NA NA NA NA AGAGCAGCCTACATGGGATTGCCTGCCTTTACCTTGAGCTCACCAGGCTTCTTCTCCTCAGAGGACTTGCAGCGAGTGATCTCCTGCAGCTTCTGTTCCAGGGGCTCCAGACACTTCTGCAGTTTTTCCTGAGGGGTAGGGAGGAAGTGGGAGAGGTGACATTTGGGGTT 30330738 30330908 NA NA NA NA NA NA AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT AACCCCAAATGTCACCTCTCCCACTTCCTCCCTACCCCTCAGGAAAAACTGCAGAAGTGTCTGGAGCCCCTGGAACAGAAGCTGCAGGAGATCACTCGCTGCAAGTCCTCTGAGGAGAAGAAGCCTGGTGAGCTCAAGGTAAAGGCAGGCAATCCCATGTAGGCTGCTCT natural 97 90 0.9877537 0.9899432 0.9888484 1922 1622 0.9153597 0.8702693 0.8928145 0.9877537 0.9899432 0.9153597 0.8702693 0 0 0 0 0.9888484 0.8928145 0 0 0 FALSE FALSE NA NA NA NA NA HCG18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM39 NA NA NA ENSG00000204599 ENSE00003490105 NA NA NA NA NA NA NA 0.9994211 TRUE NA ENSE00002364112_000 ENSE00002364112 000 7 140069357 140069526 - 33 93 44 NA NA NA NA NA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 NA NA NA NA NA NA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA natural 48 41 0.9970487 0.9939177 0.9954832 1508 1805 0.9910056 0.8525165 0.9217611 0.9970487 0.9939177 0.9910056 0.8525165 0 0 0 0 0.9954832 0.9217611 0 0 0 FALSE FALSE NA NA NA NA NA SLC37A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC37A3 NA NA NA ENSG00000157800 ENSE00003508938 NA NA NA NA NA NA NA 7.163385e-08 FALSE NA ENSE00002364112_003 ENSE00002364112 003 7 140069357 140069526 - 33 93 44 A G 140069396 2867 131 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTACGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369595 140369596 140369596 exon -7 0.9354839 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTACGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 725 398 0.9999432 0.9996024 0.9997728 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008937668 0.1470859 0.9954832 0.9217611 NA 0.07801177 NA FALSE NA 0.988 0.27 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 1 NA CAT A,G 5.765e-05 7:140369596 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 synonymous_variant 0.445371 0.91853 0.53599 0.706298 0.7939778 0 7.163385e-08 FALSE 4.06534e-05 ENSE00002364112_004 ENSE00002364112 004 7 140069357 140069526 - 33 93 44 A C 140069412 2868 115 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCAGTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369611 140369612 140369612 exon -23 0.7634409 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCAGTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 203 692 0.9979549 0.9997714 0.9988632 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.006949366 0.1472548 0.9954832 0.9217611 NA 0.0771021 NA FALSE NA 1 6.085 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 1 NA AAT A,C 8.236e-06 7:140369612 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 missense_variant 4.308094 0.9491 0.90049 0.732398 0.9678522 0 7.163385e-08 FALSE 4.06279e-06 ENSE00002364112_005 ENSE00002364112 005 7 140069357 140069526 - 33 93 44 T C 140069413 2869 114 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCGTTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369612 140369613 140369613 exon -24 0.7526882 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCGTTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 89 367 1 1 1 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008994445 0.1474835 0.9954832 0.9217611 NA 0.07823895 NA FALSE NA 0.737 0.921 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 1 NA ATG T,C 1.647e-05 7:140369613 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 missense_variant -0.178078 0.86321 0.41228 0.732398 0.8000994 0 7.163385e-08 FALSE 8.12658e-06 ENSE00002364112_006 ENSE00002364112 006 7 140069357 140069526 - 33 93 44 G A 140069422 2870 105 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACATTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369621 140369622 140369622 exon -33 0.655914 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACATTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 170 262 1 1 1 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008994445 0.1474835 0.9954832 0.9217611 NA 0.07823895 NA FALSE NA 0.73 1.428 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 1 NA AGT G,A 3.295e-05 7:140369622 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 synonymous_variant 1.183668 0.93655 0.61696 0.732398 0.7750758 0 7.163385e-08 FALSE 2.84409e-05 ENSE00002364112_007 ENSE00002364112 007 7 140069357 140069526 - 33 93 44 T C 140069423 2871 104 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACGCTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369622 140369623 140369623 exon -34 0.6451613 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACGCTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 69 86 1 1 1 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008994445 0.1474835 0.9954832 0.9217611 NA 0.07823895 NA FALSE NA 0 -4.922 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 1 NA GTG T,C 8.236e-06 7:140369623 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 synonymous_variant -0.286209 0.15515 0.02221 0.732398 0.531186 0 7.163385e-08 FALSE 4.06253e-06 ENSE00002364112_008 ENSE00002364112 008 7 140069357 140069526 - 33 93 44 G T 140069426 2872 101 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGAACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369625 140369626 140369626 exon -37 0.6129032 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGAACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 268 173 1 0.8891378 0.9445689 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008994445 0.0366213 0.9954832 0.9217611 NA 0.02280787 NA FALSE NA 0.344 -1.269 rs113110951 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 rs113110951 1 T:0.0172 T:0.0038 T:0 NA T:0.0179 T:0 T:0.0644 T:0.0025 T:0 TGC T,T 0.008014 7:140369626 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 synonymous_variant 0.339909 0.46276 0.01377 0.732398 0.7740487 0 7.163385e-08 FALSE 0.00744316 ENSE00002364112_009 ENSE00002364112 009 7 140069357 140069526 - 33 93 44 C T 140069428 2873 99 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCAGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369627 140369628 140369628 exon -39 0.5913978 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCAGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 231 51 1 1 1 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008994445 0.1474835 0.9954832 0.9217611 NA 0.07823895 NA FALSE NA 0.979 5.157 rs141192448 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 rs141192448 1 NA T:0 T:0.0005 CCG C,T 0.0002389 7:140369628 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 missense_variant 5.830648 0.80678 0.83365 0.732398 0.9980582 0 7.163385e-08 FALSE 0.000264071 ENSE00002364112_012 ENSE00002364112 012 7 140069357 140069526 - 33 93 44 C T 140069441 2876 86 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCAACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369640 140369641 140369641 exon 42 0.4516129 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCAACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 47 22 0.9884088 0.9927423 0.9905755 0.9970487 0.9939177 0.9910056 0.8525165 NA NA -0.002596723 0.1402257 0.9954832 0.9217611 NA 0.0688145 NA FALSE NA 0.975 -0.039 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 rs539255148 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCG C,T 2.471e-05 7:140369641 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 synonymous_variant 1.725477 0.73238 0.35901 0.732398 0.7329624 0 7.163385e-08 FALSE 1.21872e-05 ENSE00002364112_013 ENSE00002364112 013 7 140069357 140069526 - 33 93 44 G A 140069442 2877 85 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGTGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369641 140369642 140369642 exon 41 0.4408602 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGTGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 363 243 0.9935228 1 0.9967614 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.002517294 0.1474835 0.9954832 0.9217611 NA 0.07500037 NA FALSE NA 1 6.476 rs192545915 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 rs192545915 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGC G,A 2.471e-05 7:140369642 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 missense_variant 5.849205 0.95086 0.91629 0.732398 0.998882 0 7.163385e-08 FALSE 1.21893e-05 ENSE00002364112_014 ENSE00002364112 014 7 140069357 140069526 - 33 93 44 C T 140069449 2878 78 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAAAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369648 140369649 140369649 exon 34 0.3655914 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAAAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 119 936 1 0.9950258 0.9975129 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008994445 0.1425093 0.9954832 0.9217611 NA 0.07575186 NA FALSE NA 0.973 1.816 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/5 1 NA TCT C,T 1.647e-05 7:140369649 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 missense_variant 2.116675 0.88997 0.63175 0.732398 0.9917708 0 7.163385e-08 FALSE 5.688e-05 ENSE00002364112_017 ENSE00002364112 017 7 140069357 140069526 - 33 93 44 G T 140069480 2881 47 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATATGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369679 140369680 140369680 exon 3 0.03225806 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATATGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 84 71 1 0.992125 0.9960625 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008994445 0.1396084 0.9954832 0.9217611 NA 0.07430142 NA FALSE NA 1 0.299 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SLC37A3 HGNC 20651 ENST00000461089 3/5 1 NA AGA G,T 8.236e-06 7:140369680 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 splice_region_variant 1.352171 0.952 0.72633 0.732398 0.6156702 0 7.163385e-08 FALSE 4.06894e-06 ENSE00002364112_019 ENSE00002364112 019 7 140069357 140069526 - 33 93 44 C T 140069486 2883 41 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTATAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369685 140369686 140369686 upstr_intron -4 -0.06818182 GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTATAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 301 98 0.997233 0.9860641 0.9916486 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.00622748 0.1335475 0.9954832 0.9217611 NA 0.0698875 NA FALSE NA 0 -1.277 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC37A3 HGNC 20651 ENST00000461089 2/4 1 NA ACA C,T 2.471e-05 7:140369686 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 splice_region_variant 0.52857 0.18622 0.02236 0.162113 0.7680371 0.0794606 7.163385e-08 FALSE 1.62922e-05 ENSE00002364112_020 ENSE00002364112 020 7 140069357 140069526 - 33 93 44 G A 140069496 2884 31 GCAGATTCTACAGGGACTGACCTGTTCCTGTTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369695 140369696 140369696 upstr_intron -14 -0.2954545 GCAGATTCTACAGGGACTGACCTGTTCCTGTTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 311 134 0.99319 0.9947032 0.9939466 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.002184448 0.1421867 0.9954832 0.9217611 NA 0.07218557 NA FALSE NA 0 -0.882 rs118041208 intron_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 2/4 rs118041208 1 A:0.0014 A:0 A:0 NA A:0.0069 A:0 A:0 A:0 A:0.0005 AGC G,A 0.0003295 7:140369696 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 intron_variant -0.242055 0.09724 0.00361 0.088506 0.7353032 0.0455939 7.163385e-08 FALSE 0.000371902 ENSE00002364112_021 ENSE00002364112 021 7 140069357 140069526 - 33 93 44 A C 140069501 2885 26 GCAGATTCTACAGGGACTGACCTGTGCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA 140369556 140369726 140369700 140369701 140369701 upstr_intron -19 -0.4090909 GCAGATTCTACAGGGACTGACCTGTGCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA GCAGATTCTACAGGGACTGACCTGTTCCTGCTGTCTTACTGTAGATCTGGAGCAGCAACCATTTGTTCCCCAGTGCAGAGAAAGCGACTCTTTTCCTCGGCACACTGGATACCATTTTCCTCTTCTCCTATGCTGTGGTAAGTTTTGGAACTCTAGGGCTTAAAGCTAAA mutant NA NA NA NA NA 72 237 1 1 1 0.9970487 0.9939177 0.9910056 0.8525165 NA NA 0.008994445 0.1474835 0.9954832 0.9217611 NA 0.07823895 NA FALSE NA 0 0.021 . intron_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 2/4 1 NA GAA A,C 8.237e-06 7:140369701 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003508938 intron_variant -0.088841 0.18984 0.06603 0.088506 0.5901854 0.0455939 7.163385e-08 FALSE NA ENSE00002364168_000 ENSE00002364168 000 5 96086249 96086418 + 42 96 32 NA NA NA NA NA AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 NA NA NA NA NA NA AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC natural NA NA NA NA NA 14 1238 0.8640985 0.9948553 0.9294769 NA NA 0.8640985 0.9948553 NA NA 0 0 NA 0.9294769 NA 0 NA FALSE NA NA NA NA NA NA CAST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAST NA NA NA ENSG00000153113 ENSE00003472124 NA NA NA NA NA NA NA 1.555758e-06 FALSE NA ENSE00002364168_001 ENSE00002364168 001 5 96086249 96086418 + 42 96 32 T C 96086265 811 17 AATATTTCTAAACTTACTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750560 96750561 96750561 upstr_intron -26 -0.5952381 AATATTTCTAAACTTACTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 701 309 0.9827265 0.9828071 0.9827668 NA NA 0.8640985 0.9948553 NA NA 0.118628 -0.01204818 NA 0.9294769 NA 0.05328991 NA FALSE NA 0.001 -0.201 . intron_variant MODIFIER CAST HGNC 1515 ENST00000508608 18/30 1 NA ATT T,C 1.647e-05 5:96750561 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 intron_variant 0.100563 0.15852 0.08636 0.295142 0.3991042 0.0454891 1.555758e-06 FALSE 8.16073e-06 ENSE00002364168_002 ENSE00002364168 002 5 96086249 96086418 + 42 96 32 A G 96086268 812 20 AATATTTCTAAACTTATTGGGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750563 96750564 96750564 upstr_intron -23 -0.5238095 AATATTTCTAAACTTATTGGGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 885 11 1 1 1 NA NA 0.8640985 0.9948553 NA NA 0.1359015 0.005144687 NA 0.9294769 NA 0.07052308 NA FALSE NA 0.002 0.053 . intron_variant MODIFIER CAST HGNC 1515 ENST00000508608 18/30 rs577657682 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GAG A,G 8.237e-06 5:96750564 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 intron_variant 0.269326 0.17612 0.096 0.295142 0.4016318 0.0454891 1.555758e-06 FALSE 4.0795e-06 ENSE00002364168_003 ENSE00002364168 003 5 96086249 96086418 + 42 96 32 G A 96086269 813 21 AATATTTCTAAACTTATTGAAAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750564 96750565 96750565 upstr_intron -22 -0.5 AATATTTCTAAACTTATTGAAAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 288 560 1 0.9952321 0.997616 NA NA 0.8640985 0.9948553 NA NA 0.1359015 0.0003767741 NA 0.9294769 NA 0.06813913 NA FALSE NA 0 -0.371 . intron_variant MODIFIER CAST HGNC 1515 ENST00000508608 18/30 1 NA AGA G,A 8.237e-06 5:96750565 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 intron_variant 0.092851 0.10924 0.03242 0.295142 0.560395 0.0454891 1.555758e-06 FALSE 4.07784e-06 ENSE00002364168_004 ENSE00002364168 004 5 96086249 96086418 + 42 96 32 C T 96086274 814 26 AATATTTCTAAACTTATTGAGAGTATTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750569 96750570 96750570 upstr_intron -17 -0.3809524 AATATTTCTAAACTTATTGAGAGTATTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 545 589 0.9962557 1 0.9981278 NA NA 0.8640985 0.9948553 NA NA 0.1321571 0.005144687 NA 0.9294769 NA 0.06865091 NA FALSE NA 0 -0.193 . intron_variant MODIFIER CAST HGNC 1515 ENST00000508608 18/30 1 NA ACT C,T 8.237e-06 5:96750570 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 intron_variant 0.021093 0.20577 0.08099 0.295142 0.3822014 0.0454891 1.555758e-06 FALSE 8.14744e-06 ENSE00002364168_005 ENSE00002364168 005 5 96086249 96086418 + 42 96 32 C T 96086285 815 37 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTTCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750580 96750581 96750581 upstr_intron -6 -0.1190476 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTTCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 37 630 1 1 1 NA NA 0.8640985 0.9948553 NA NA 0.1359015 0.005144687 NA 0.9294769 NA 0.07052308 NA FALSE NA 0.012 0.924 . splice_region_variant&intron_variant LOW CAST HGNC 1515 ENST00000508608 18/30 1 NA TCC C,T 1.647e-05 5:96750581 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 splice_region_variant 0.981944 0.20663 0.05306 0.295142 0.6062222 0.0808512 1.555758e-06 FALSE 8.14113e-06 ENSE00002364168_006 ENSE00002364168 006 5 96086249 96086418 + 42 96 32 G A 96086299 816 51 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAAGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750594 96750595 96750595 exon 9 0.09375 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAAGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 557 715 0.9963362 0.9997787 0.9980575 NA NA 0.8640985 0.9948553 NA NA 0.1322377 0.004923431 NA 0.9294769 NA 0.06858054 NA FALSE NA 0.002 0.692 . synonymous_variant LOW CAST HGNC 1515 ENST00000508608 19/31 1 NA AGG G,A 1.647e-05 5:96750595 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 synonymous_variant 0.350472 0.16797 0.07038 0.706298 0.3205523 0 1.555758e-06 FALSE 8.13769e-06 ENSE00002364168_007 ENSE00002364168 007 5 96086249 96086418 + 42 96 32 C T 96086301 817 53 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGTCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750596 96750597 96750597 exon 11 0.1145833 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGTCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 2827 1503 0.9981351 0.9450784 0.9716068 NA NA 0.8640985 0.9948553 NA NA 0.1340366 -0.04977687 NA 0.9294769 NA 0.04212986 NA FALSE NA 0 0.058 NA NA NA CAST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:96750597 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 missense_variant -0.156224 0.1568 0.03686 0.706298 0.8743035 0 1.555758e-06 FALSE 4.06848e-06 ENSE00002364168_009 ENSE00002364168 009 5 96086249 96086418 + 42 96 32 C T 96086302 819 54 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCTGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750597 96750598 96750598 exon 12 0.125 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCTGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 269 38 0.9976823 1 0.9988412 NA NA 0.8640985 0.9948553 NA NA 0.1335838 0.005144687 NA 0.9294769 NA 0.06936426 NA FALSE NA 0 -2.004 . synonymous_variant LOW CAST HGNC 1515 ENST00000508608 19/31 rs369483856 1 NA T:0 T:0.0001 CCG C,T 4.942e-05 5:96750598 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 synonymous_variant 1.561221 0.10393 0.00439 0.706298 0.2963105 0 1.555758e-06 FALSE 4.06901e-05 ENSE00002364168_013 ENSE00002364168 013 5 96086249 96086418 + 42 96 32 C T 96086322 823 74 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTTGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750617 96750618 96750618 exon 32 0.3333333 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTTGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 760 177 1 1 1 NA NA 0.8640985 0.9948553 NA NA 0.1359015 0.005144687 NA 0.9294769 NA 0.07052308 NA FALSE NA 0 -1.472 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 19/31 1 tolerated(0.1) benign(0.105) NA TCG C,T 8.237e-06 5:96750618 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 missense_variant 0.907511 0.12455 0.01511 0.706298 0.949272 0 1.555758e-06 FALSE 8.13279e-06 ENSE00002364168_016 ENSE00002364168 016 5 96086249 96086418 + 42 96 32 C T 96086336 826 88 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTTGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750631 96750632 96750632 exon 46 0.4791667 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTTGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 2330 403 0.9968066 1 0.9984033 NA NA 0.8640985 0.9948553 NA NA 0.1327081 0.005144687 NA 0.9294769 NA 0.06892641 NA FALSE NA 0 0.228 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 19/31 rs368243330 1 deleterious(0) probably_damaging(0.932) NA TCG C,T 4.118e-05 5:96750632 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 missense_variant 5.257177 0.16221 0.01548 0.706298 0.9980885 0 1.555758e-06 FALSE 2.84629e-05 ENSE00002364168_017 ENSE00002364168 017 5 96086249 96086418 + 42 96 32 T C 96086346 827 98 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCACGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750641 96750642 96750642 exon -41 0.5833333 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCACGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 22 134 1 1 1 NA NA 0.8640985 0.9948553 NA NA 0.1359015 0.005144687 NA 0.9294769 NA 0.07052308 NA FALSE NA 0.996 3.822 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 19/31 1 tolerated(0.06) benign(0.3) NA ATG T,C 4.942e-05 5:96750642 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 missense_variant 0.764158 0.97728 0.89267 0.706298 0.6497682 0 1.555758e-06 FALSE 2.84634e-05 ENSE00002364168_020 ENSE00002364168 020 5 96086249 96086418 + 42 96 32 G A 96086359 830 111 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAATCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750654 96750655 96750655 exon -28 0.71875 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAATCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 91 653 1 1 1 NA NA 0.8640985 0.9948553 NA NA 0.1359015 0.005144687 NA 0.9294769 NA 0.07052308 NA FALSE NA 0.766 2.286 . synonymous_variant LOW CAST HGNC 1515 ENST00000508608 19/31 1 NA AGT G,A 8.237e-06 5:96750655 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 synonymous_variant -0.422305 0.35088 0.46567 0.706298 0.6476273 0 1.555758e-06 FALSE 4.07053e-06 ENSE00002364168_021 ENSE00002364168 021 5 96086249 96086418 + 42 96 32 C G 96086369 831 121 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCGCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750664 96750665 96750665 exon -18 0.8229167 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCGCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 613 534 1 0.8633761 0.931688 NA NA 0.8640985 0.9948553 NA NA 0.1359015 -0.1314793 NA 0.9294769 NA 0.002211115 NA FALSE NA 0.002 -0.105 NA NA NA CAST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:96750665 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 missense_variant 0.457372 0.13969 0.01747 0.706298 0.9332578 0 1.555758e-06 FALSE 4.07236e-06 ENSE00002364168_023 ENSE00002364168 023 5 96086249 96086418 + 42 96 32 C T 96086376 833 128 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCTGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750671 96750672 96750672 exon -11 0.8958333 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCTGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 13 468 1 0.9793298 0.9896649 NA NA 0.8640985 0.9948553 NA NA 0.1359015 -0.01552555 NA 0.9294769 NA 0.06018797 NA FALSE NA 0.017 0.974 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 19/31 1 tolerated(0.06) benign(0.008) NA CCG C,T 4.942e-05 5:96750672 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 missense_variant 1.512744 0.21387 0.07498 0.706298 0.5274092 0 1.555758e-06 FALSE 5.29713e-05 ENSE00002364168_024 ENSE00002364168 024 5 96086249 96086418 + 42 96 32 G A 96086377 834 129 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCAGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 96750672 96750673 96750673 exon -10 0.90625 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCAGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 18 633 1 0.9943344 0.9971672 NA NA 0.8640985 0.9948553 NA NA 0.1359015 -0.0005208849 NA 0.9294769 NA 0.0676903 NA FALSE NA 0.01 -0.375 . synonymous_variant LOW CAST HGNC 1515 ENST00000508608 19/31 rs554568334 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGG G,A 0.0001153 5:96750673 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 synonymous_variant 0.41441 0.07548 0.0029 0.706298 0.2903658 0 1.555758e-06 FALSE 0.000110076 ENSE00002364168_027 ENSE00002364168 027 5 96086249 96086418 + 42 96 32 G A 96086401 837 153 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTAGGCATTTGAGCAGTGGC 96750544 96750714 96750696 96750697 96750697 downstr_intron 15 1.483871 AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTAGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC mutant NA NA NA NA NA 188 1014 0.9754779 0.9924526 0.9839653 NA NA 0.8640985 0.9948553 NA NA 0.1113793 -0.002402667 NA 0.9294769 NA 0.05448834 NA FALSE NA 0 0.272 . intron_variant MODIFIER CAST HGNC 1515 ENST00000508608 19/30 1 NA TGG G,A 8.238e-06 5:96750697 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003472124 intron_variant 1.720176 0.18993 0.02805 0.099367 0.7748773 0.0725607 1.555758e-06 FALSE NA ENSE00002364168_BRK ENSE00002364168 BRK 5 96086249 96086418 + 42 96 32 A,G; T,T NA NA NA AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCTTGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGCCGAGTGACTCCCTGGGCATTTGAGCAGTGGC 96750544 96750714 NA NA NA NA NA NA AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCTTGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGCCGAGTGACTCCCTGGGCATTTGAGCAGTGGC AATATTTCTAAACTTATTGAGAGTACTTGTGTCTTTCCTCAGGAATCTAAGGCCGCTGCTCCAGCTCCTGTGTCGGAGGCTGTGTGTCGGACCTCCATGTGTAGTATACAGTCAGCACCCCCTGAGCCGGCTACCTTGGTGAGTGACTCCCTGGGCATTTGAGCAGTGGC control 130 32 0 0 0 NA NA NA NA NA NA NA 0.8640985 0.9948553 NA NA NA NA NA 0.9294769 NA NA NA NA NA NA NA NA NA NA CAST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAST NA NA NA ENSG00000153113 ENSE00003472124 NA NA NA NA NA NA NA 1.555758e-06 FALSE NA ENSE00002364231_000 ENSE00002364231 000 1 32121944 32122113 - 57 45 68 NA NA NA NA NA CACCTGCCTCCCCAGGGAGCCTCAGAGATGCTGCCCGGACTTCACCTCTGACTTTTGCTTTCCTCTAGGGACCCCCTGGAAAGCAGGGATTCTATGGACCTCCTGGTCCCAAGGTGAGTGGGCACTGGCTGGGCTTGAGAGGAGAAGCTCACGAGTGGATGAAGCCCAGC 31656342 31656512 NA NA NA NA NA NA CACCTGCCTCCCCAGGGAGCCTCAGAGATGCTGCCCGGACTTCACCTCTGACTTTTGCTTTCCTCTAGGGACCCCCTGGAAAGCAGGGATTCTATGGACCTCCTGGTCCCAAGGTGAGTGGGCACTGGCTGGGCTTGAGAGGAGAAGCTCACGAGTGGATGAAGCCCAGC CACCTGCCTCCCCAGGGAGCCTCAGAGATGCTGCCCGGACTTCACCTCTGACTTTTGCTTTCCTCTAGGGACCCCCTGGAAAGCAGGGATTCTATGGACCTCCTGGTCCCAAGGTGAGTGGGCACTGGCTGGGCTTGAGAGGAGAAGCTCACGAGTGGATGAAGCCCAGC natural 164 226 0.8159086 0.85 0.8329543 1708 321 0.8953889 0.9249601 0.9101745 0.8159086 0.85 0.8953889 0.9249601 0 0 0 0 0.8329543 0.9101745 0 0 0 FALSE FALSE NA NA NA NA NA COL16A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL16A1 NA NA NA ENSG00000084636 ENSE00003787901 NA NA NA NA NA NA NA 3.384735e-15 FALSE NA ENSE00002364245_000 ENSE00002364245 000 5 146788246 146788415 - 45 69 56 NA NA NA NA NA GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 NA NA NA NA NA NA ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC natural NA NA NA NA NA 2249 3721 0.9393115 0.9863289 0.9628202 NA NA 0.9393115 0.9863289 NA NA 0 0 NA 0.9628202 NA 0 NA FALSE NA NA NA NA NA NA DPYSL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DPYSL3 NA NA NA ENSG00000113657 ENSE00003598682 NA NA NA NA NA NA NA 0.9964832 TRUE NA ENSE00002364245_001 ENSE00002364245 001 5 146788246 146788415 - 45 69 56 G A 146788256 1498 160 GTTTATTCATACGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408692 147408693 147408693 downstr_intron 35 1.795455 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGTATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 1369 42 0.9977494 1 0.9988747 NA NA 0.9393115 0.9863289 NA NA 0.05843795 0.01367111 NA 0.9628202 NA 0.03605453 NA FALSE NA 0 -0.293 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA TGC G,A 8.266e-06 5:147408693 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 intron_variant 0.110343 0.07344 0.00118 0.256867 0.761217 0.0489367 0.9964832 TRUE 4.07794e-06 ENSE00002364245_002 ENSE00002364245 002 5 146788246 146788415 - 45 69 56 C A 146788257 1499 159 GTTTATTCATGAGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408693 147408694 147408694 downstr_intron 34 1.772727 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACTCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 45 615 0.9990819 0.9988783 0.9989801 NA NA 0.9393115 0.9863289 NA NA 0.05977038 0.01254941 NA 0.9628202 NA 0.0361599 NA FALSE NA 0 -0.244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:147408694 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 intron_variant 0.075268 0.18538 0.09594 0.256867 0.7747342 0.0489367 0.9964832 TRUE 0.00473184 ENSE00002364245_003 ENSE00002364245 003 5 146788246 146788415 - 45 69 56 C T 146788257 1500 159 GTTTATTCATGTGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408693 147408694 147408694 downstr_intron 34 1.772727 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACACATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 1151 210 0.9495949 0.9992461 0.9744205 NA NA 0.9393115 0.9863289 NA NA 0.01028339 0.01291726 NA 0.9628202 NA 0.01160032 NA FALSE NA 0 -0.244 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003598682 intron_variant 0.043533 0.14507 0.04827 0.256867 0.7327439 0.0489367 9.990095e-18 FALSE 2.4475e-05 ENSE00002364245_004 ENSE00002364245 004 5 146788246 146788415 - 45 69 56 C G 146788257 1501 159 GTTTATTCATGGGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408693 147408694 147408694 downstr_intron 34 1.772727 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACCCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 757 493 0.9782891 0.9972516 0.9877704 NA NA 0.9393115 0.9863289 NA NA 0.03897763 0.01092271 NA 0.9628202 NA 0.02495017 NA FALSE NA 0 -0.244 NA NA NA DPYSL3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DPYSL3 NA NA NA ENSG00000113657 ENSE00003598682 intron_variant -0.115828 0.18166 0.07605 0.256867 0.6320117 0.0489367 0.9964832 TRUE 4.07917e-06 ENSE00002364245_005 ENSE00002364245 005 5 146788246 146788415 - 45 69 56 G A 146788258 1502 158 GTTTATTCATGCATTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408694 147408695 147408695 downstr_intron 33 1.75 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAATGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 454 367 0.998108 0.9954127 0.9967603 NA NA 0.9393115 0.9863289 NA NA 0.05879649 0.00908377 NA 0.9628202 NA 0.03394013 NA FALSE NA 0 -4.355 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA CGT G,A 8.266e-06 5:147408695 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 intron_variant 0.065819 0.08012 0.00051 0.256867 0.8136251 0.0495094 0.9964832 TRUE 1.22273e-05 ENSE00002364245_006 ENSE00002364245 006 5 146788246 146788415 - 45 69 56 C G 146788278 1503 138 GTTTATTCATGCGTTGTGTGTGCACCTTCATCGCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408714 147408715 147408715 downstr_intron 13 1.295455 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGCGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 211 996 0.9872903 0.9970422 0.9921662 NA NA 0.9393115 0.9863289 NA NA 0.04797879 0.01071328 NA 0.9628202 NA 0.02934603 NA FALSE NA 0 -0.319 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA CCC C,G 8.267e-06 5:147408715 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 intron_variant 0.230692 0.25102 0.04725 0.256867 0.4859492 0.0495094 0.9964832 TRUE 4.06336e-06 ENSE00002364245_007 ENSE00002364245 007 5 146788246 146788415 - 45 69 56 C G 146788279 1504 137 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCGCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408715 147408716 147408716 downstr_intron 12 1.272727 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGCGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 203 723 1 0.9850544 0.9925272 NA NA 0.9393115 0.9863289 NA NA 0.06068851 -0.001274508 NA 0.9628202 NA 0.029707 NA FALSE NA 0 1.08 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA CCC C,G 1.653e-05 5:147408716 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 intron_variant 0.266306 0.28261 0.1539 0.256867 0.4919559 0.0495094 0.9964832 TRUE 2.43768e-05 ENSE00002364245_009 ENSE00002364245 009 5 146788246 146788415 - 45 69 56 T C 146788288 1506 128 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTCACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408724 147408725 147408725 downstr_intron 3 1.068182 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTGAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 178 1039 1 0.9994487 0.9997243 NA NA 0.9393115 0.9863289 NA NA 0.06068851 0.01311979 NA 0.9628202 NA 0.03690415 NA FALSE NA 0.961 0.413 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA TTA T,C 0.0001157 5:147408725 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 splice_region_variant 0.90418 0.97476 0.65852 0.256867 0.7077606 0.235063 0.9964832 TRUE 5.6869e-05 ENSE00002364245_010 ENSE00002364245 010 5 146788246 146788415 - 45 69 56 C T 146788304 1507 112 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGTTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408740 147408741 147408741 exon -14 0.8115942 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAACAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 2229 858 0.9965151 0.8763684 0.9364418 NA NA 0.9393115 0.9863289 NA NA 0.05720365 -0.1099605 NA 0.9628202 NA -0.02637843 NA FALSE NA 1 7.82 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA GCT C,T 8.27e-06 5:147408741 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 missense_variant 7.046853 0.99612 0.99211 0.706548 0.9970596 0 0.9964832 TRUE 4.06131e-06 ENSE00002364245_011 ENSE00002364245 011 5 146788246 146788415 - 45 69 56 C T 146788311 1508 105 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTATATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408747 147408748 147408748 exon -21 0.7101449 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATATACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 1759 88 0.994441 0.9777615 0.9861012 NA NA 0.9393115 0.9863289 NA NA 0.05512946 -0.008567438 NA 0.9628202 NA 0.02328101 NA FALSE NA 1 6.081 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 rs367968514 1 NA T:0.0003 T:0 ACA C,T 8.271e-06 5:147408748 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 missense_variant 5.351916 0.99612 0.98793 0.706548 0.9979553 0 0.9964832 TRUE NA ENSE00002364245_013 ENSE00002364245 013 5 146788246 146788415 - 45 69 56 G A 146788324 1510 92 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGACCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408760 147408761 147408761 exon -34 0.5217391 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGTCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 127 21 0.9924221 1 0.996211 NA NA 0.9393115 0.9863289 NA NA 0.05311058 0.01367111 NA 0.9628202 NA 0.03339085 NA FALSE NA 0.994 0.284 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA GGC G,A 8.273e-06 5:147408761 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 synonymous_variant 1.381546 0.9717 0.82998 0.706548 0.674362 0 0.9964832 TRUE 4.06141e-06 ENSE00002364245_014 ENSE00002364245 014 5 146788246 146788415 - 45 69 56 A G 146788327 1511 89 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCGGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408763 147408764 147408764 exon 33 0.4782609 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACCGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 490 256 0.9983932 0.9993817 0.9988875 NA NA 0.9393115 0.9863289 NA NA 0.05908175 0.01305282 NA 0.9628202 NA 0.03606728 NA FALSE NA 1 1.343 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA CAG A,G 1.655e-05 5:147408764 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 synonymous_variant 0.941876 0.9775 0.88665 0.706548 0.6958817 0 0.9964832 TRUE 8.12249e-06 ENSE00002364245_017 ENSE00002364245 017 5 146788246 146788415 - 45 69 56 T A 146788347 1514 69 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACAAGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408783 147408784 147408784 exon 13 0.1884058 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCTTGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 465 845 0.9982164 1 0.9991082 NA NA 0.9393115 0.9863289 NA NA 0.0589049 0.01367111 NA 0.9628202 NA 0.03628801 NA FALSE NA 1 6.278 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA ATG T,A 8.277e-06 5:147408784 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 missense_variant 4.148062 0.99473 0.98803 0.706548 0.8129716 0 0.9964832 TRUE 8.12341e-06 ENSE00002364245_018 ENSE00002364245 018 5 146788246 146788415 - 45 69 56 C T 146788349 1515 67 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGTGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408785 147408786 147408786 exon 11 0.1594203 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCACATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 67 1057 0.9699523 0.9978429 0.9838976 NA NA 0.9393115 0.9863289 NA NA 0.03064084 0.01151401 NA 0.9628202 NA 0.02107742 NA FALSE NA 1 4.968 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 1 NA GCG C,T 1.655e-05 5:147408786 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 missense_variant 8.119983 0.99612 0.97934 0.706548 0.9992345 0 0.9964832 TRUE 1.62479e-05 ENSE00002364245_019 ENSE00002364245 019 5 146788246 146788415 - 45 69 56 G A 146788350 1516 66 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCAGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408786 147408787 147408787 exon 10 0.1449275 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCTGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 557 37 1 0.9478983 0.9739491 NA NA 0.9393115 0.9863289 NA NA 0.06068851 -0.0384306 NA 0.9628202 NA 0.01112895 NA FALSE NA 0.997 2.066 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 rs368879178 1 NA A:0 A:0.0001 CGG G,A 1.655e-05 5:147408787 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 missense_variant 7.74763 0.98834 0.9407 0.706548 0.9994865 0 0.9964832 TRUE 2.84352e-05 ENSE00002364245_022 ENSE00002364245 022 5 146788246 146788415 - 45 69 56 A C 146788375 1519 41 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGCAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408811 147408812 147408812 upstr_intron -16 -0.2678571 ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTGCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 21 466 1 1 1 NA NA 0.9393115 0.9863289 NA NA 0.06068851 0.01367111 NA 0.9628202 NA 0.03717981 NA FALSE NA 0 -1.124 rs181599575 upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 rs181599575 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GAA A,C 8.278e-06 5:147408812 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 intron_variant 0.176974 0.21134 0.05401 0.062308 0.67478 0.088125 0.9964832 TRUE 4.06458e-06 ENSE00002364245_026 ENSE00002364245 026 5 146788246 146788415 - 45 69 56 T C 146788390 1523 26 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAACAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 147408826 147408827 147408827 upstr_intron -31 -0.5357143 ATTTTTCCAAATCTCACTTGAGCTTGTTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 191 221 1 1 1 NA NA 0.9393115 0.9863289 NA NA 0.06068851 0.01367111 NA 0.9628202 NA 0.03717981 NA FALSE NA 0 0.366 rs138159383 upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 rs138159383 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATA T,C 8.278e-06 5:147408827 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 intron_variant 0.252753 0.29854 0.12182 0.062308 0.6074515 0.0870264 0.9964832 TRUE 8.15202e-06 ENSE00002364245_027 ENSE00002364245 027 5 146788246 146788415 - 45 69 56 A G 146788398 1524 18 GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTACCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCCTGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAGGTGAGATTTGGAAAAAT 147408682 147408852 147408834 147408835 147408835 upstr_intron -39 -0.6785714 ATTTTTCCAAATCTCACCTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC mutant NA NA NA NA NA 338 2127 1 0.9969133 0.9984566 NA NA 0.9393115 0.9863289 NA NA 0.06068851 0.01058436 NA 0.9628202 NA 0.03563643 NA FALSE NA 0 -0.327 . upstream_gene_variant MODIFIER DPYSL3 HGNC 3015 ENST00000508042 rs374106678 1 NA G:0 G:0.0001 AAG A,G 4.139e-05 5:147408835 DPYSL3 HGNC Symbol protein_coding 119245 ENSG00000113657 ENSE00003598682 intron_variant 0.339403 0.13661 0.00482 0.062308 0.4824217 0.0870264 0.9964832 TRUE 2.45433e-05 ENSE00002364245_BRK ENSE00002364245 BRK 5 146788246 146788415 - 45 69 56 A,G; T,T NA NA NA GTTTATTCATGCGTTGTGTGTGCACCTTCATCCCCTGTAACTTGGCTCTTCTGGCCTGCTCAGTACATGGCCTTCTGGGCCAGTTATCCCCATTTCCAACATGCGGGTTTGCTCAAGAAATGAAAAAAGAAAATAGTTCTTCAATAAGCTCAAGTGAGATTTGGAAAAAT 147408682 147408852 NA NA NA NA NA NA ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCTTGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGCCAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC ATTTTTCCAAATCTCACTTGAGCTTATTGAAGAACTATTTTCTTTTTTCATTTCAGGAGCAAACCCGCATGTTGGAAATGGGGATAACTGGCCCAGAAGGCCATGTACTGAGCAGGCCAGAAGAGGTAAGTTACAGGGGATGAAGGTGCACACACAACGCATGAATAAAC control 295 122 0 0 0 NA NA NA NA NA NA NA 0.9393115 0.9863289 NA NA NA NA NA 0.9628202 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DPYSL3 NA NA NA ENSG00000113657 ENSE00003598682 NA NA NA NA NA NA NA 0.9964832 TRUE NA ENSE00002364301_000 ENSE00002364301 000 6 84270545 84270714 - 38 84 48 NA NA NA NA NA TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 NA NA NA NA NA NA TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT natural 93 56 0.992732 0.992768 0.99275 6798 3437 0.9251768 0.7356995 0.8304381 0.992732 0.992768 0.9251768 0.7356995 0 0 0 0 0.99275 0.8304381 0 0 0 FALSE FALSE NA NA NA NA NA SNAP91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNAP91 NA NA NA ENSG00000065609 ENSE00003677410 NA NA NA NA NA NA NA 0.9743507 TRUE NA ENSE00002364301_001 ENSE00002364301 001 6 84270545 84270714 - 38 84 48 C T 84270570 1923 145 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACATGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560850 83560851 83560851 downstr_intron 13 1.351351 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACATGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 904 592 0.8630016 1 0.9315008 0.992732 0.992768 0.9251768 0.7356995 NA NA -0.06217519 0.2643005 0.99275 0.8304381 NA 0.1010627 NA FALSE NA 0 -0.775 . intron_variant MODIFIER SNAP91 HGNC 14986 ENST00000439399 27/29 rs374737673 1 NA T:0 T:0.0001 ACG G,T 8.276e-06 6:83560851 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 intron_variant -0.107758 0.11623 0.00999 0.053691 0.7964932 0.0443366 0.9743507 TRUE 1.62889e-05 ENSE00002364301_002 ENSE00002364301 002 6 84270545 84270714 - 38 84 48 G A 84270571 1924 144 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGATGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560851 83560852 83560852 downstr_intron 12 1.324324 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGATGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 2257 697 0.9993784 0.9902514 0.9948149 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07420159 0.2545519 0.99275 0.8304381 NA 0.1643768 NA FALSE NA 0.03 1 . intron_variant MODIFIER SNAP91 HGNC 14986 ENST00000439399 27/29 1 NA CGT G,A 5.793e-05 6:83560852 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 intron_variant 0.334531 0.13255 0.01417 0.053691 0.6341075 0.0443366 0.9743507 TRUE 6.10844e-05 ENSE00002364301_003 ENSE00002364301 003 6 84270545 84270714 - 38 84 48 C G 84270576 1925 139 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTCATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560856 83560857 83560857 downstr_intron 7 1.189189 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTCATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 1174 198 0.9829409 0.9992004 0.9910707 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.05776413 0.2635009 0.99275 0.8304381 NA 0.1606325 NA FALSE NA 0.447 0.875 . splice_region_variant&intron_variant LOW SNAP91 HGNC 14986 ENST00000439399 27/29 1 NA TCA C,G 8.275e-06 6:83560857 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 splice_region_variant 0.328675 0.24146 0.34062 0.053691 0.4967586 0.165853 0.9743507 TRUE 4.06904e-06 ENSE00002364301_004 ENSE00002364301 004 6 84270545 84270714 - 38 84 48 T C 84270592 1926 123 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGGTTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560872 83560873 83560873 exon -10 0.8928571 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGGTTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 452 259 0.9907728 0.9989648 0.9948688 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.06559594 0.2632653 0.99275 0.8304381 NA 0.1644306 NA FALSE NA 0.999 0.284 . synonymous_variant LOW SNAP91 HGNC 14986 ENST00000439399 27/30 1 NA ATC T,C 1.655e-05 6:83560873 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 synonymous_variant -0.07818 0.96395 0.6953 0.554377 0.6731168 0 0.9743507 TRUE NA ENSE00002364301_006 ENSE00002364301 006 6 84270545 84270714 - 38 84 48 G A 84270603 1928 112 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAATCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560883 83560884 83560884 exon -21 0.7619048 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAATCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 254 1330 1 0.9832089 0.9916045 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07482319 0.2475095 0.99275 0.8304381 NA 0.1611663 NA FALSE NA 1 4.938 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(0.1) probably_damaging(0.986) NA GGT G,A 1.655e-05 6:83560884 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 3.865083 0.99145 0.96282 0.554377 0.9870879 0 0.9743507 TRUE 8.13418e-06 ENSE00002364301_007 ENSE00002364301 007 6 84270545 84270714 - 38 84 48 T C 84270604 1929 111 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAGCCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560884 83560885 83560885 exon -22 0.75 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAGCCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 533 739 0.9894607 0.9999485 0.9947046 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.06428389 0.264249 0.99275 0.8304381 NA 0.1642664 NA FALSE NA 0.434 -0.656 . synonymous_variant LOW SNAP91 HGNC 14986 ENST00000439399 27/30 1 NA GTT T,C 1.655e-05 6:83560885 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 synonymous_variant -1.301266 0.94721 0.03901 0.554377 0.2618577 0 0.9743507 TRUE 8.13425e-06 ENSE00002364301_008 ENSE00002364301 008 6 84270545 84270714 - 38 84 48 T A 84270607 1930 108 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGTCAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560887 83560888 83560888 exon -25 0.7142857 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGTCAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 577 310 0.9951845 0.9920068 0.9935957 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.0700077 0.2563073 0.99275 0.8304381 NA 0.1631575 NA FALSE NA 1 0.74 . synonymous_variant LOW SNAP91 HGNC 14986 ENST00000439399 27/30 rs372801379 1 NA A:0.0003 A:0 GTC T,A 8.275e-06 6:83560888 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 synonymous_variant -0.335781 0.96819 0.80509 0.554377 0.4572728 0 0.9743507 TRUE 4.06696e-06 ENSE00002364301_009 ENSE00002364301 009 6 84270545 84270714 - 38 84 48 C T 84270613 1931 102 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCAGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560893 83560894 83560894 exon -31 0.6428571 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCAGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 765 569 0.9216112 1 0.9608056 0.992732 0.992768 0.9251768 0.7356995 NA NA -0.003565601 0.2643005 0.99275 0.8304381 NA 0.1303675 NA FALSE NA 1 1.181 rs187423527 synonymous_variant LOW SNAP91 HGNC 14986 ENST00000439399 27/30 rs187423527 1 T:0.0010 T:0 T:0.0043 NA T:0 T:0.002 T:0 T:0.001 T:0.0052 CCG C,T 0.002855 6:83560894 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 synonymous_variant 1.260933 0.95824 0.50986 0.554377 0.3848583 0 0.9743507 TRUE 0.00301038 ENSE00002364301_010 ENSE00002364301 010 6 84270545 84270714 - 38 84 48 G A 84270614 1932 101 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATTGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560894 83560895 83560895 exon -32 0.6309524 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATTGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 69 615 0.9634178 0.9735406 0.9684792 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.03824096 0.2378411 0.99275 0.8304381 NA 0.1380411 NA FALSE NA 1 6.61 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(0.08) benign(0.288) NA CGA G,A 8.274e-06 6:83560895 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 4.260423 0.9912 0.97474 0.554377 0.9981863 0 0.9743507 TRUE 2.03426e-05 ENSE00002364301_011 ENSE00002364301 011 6 84270545 84270714 - 38 84 48 G A 84270617 1933 98 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCTATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560897 83560898 83560898 exon -35 0.5952381 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCTATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 518 1281 0.9983196 0.9932426 0.9957811 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07314276 0.2575431 0.99275 0.8304381 NA 0.1653429 NA FALSE NA 1 6.61 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 deleterious(0.02) possibly_damaging(0.679) NA TGG G,A 1.655e-05 6:83560898 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 5.074306 0.9912 0.97474 0.554377 0.9981467 0 0.9743507 TRUE 4.06742e-06 ENSE00002364301_013 ENSE00002364301 013 6 84270545 84270714 - 38 84 48 C T 84270624 1935 91 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCAGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560904 83560905 83560905 exon -42 0.5119048 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCAGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 114 535 0.9464153 0.9463571 0.9463862 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.02123847 0.2106577 0.99275 0.8304381 NA 0.1159481 NA FALSE NA 0.999 2.743 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 rs369361483 1 deleterious(0) probably_damaging(0.965) NA T:0.0003 T:0.0002 CCG C,T 0.0001076 6:83560905 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 4.595322 0.56458 0.72355 0.554377 0.9953093 0 0.9743507 TRUE 0.000126182 ENSE00002364301_014 ENSE00002364301 014 6 84270545 84270714 - 38 84 48 G A 84270625 1936 90 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCTGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560905 83560906 83560906 exon 42 0.5 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCTGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 2354 147 0.9900504 0.9855389 0.9877946 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.06487359 0.2498394 0.99275 0.8304381 NA 0.1573565 NA FALSE NA 0.95 -0.148 . synonymous_variant LOW SNAP91 HGNC 14986 ENST00000439399 27/30 rs373507806 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 CGG G,A 9.929e-05 6:83560906 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 synonymous_variant 0.772323 0.13524 0.15002 0.554377 0.3802851 0 0.9743507 TRUE 6.9198e-05 ENSE00002364301_015 ENSE00002364301 015 6 84270545 84270714 - 38 84 48 G A 84270626 1937 89 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGTCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560906 83560907 83560907 exon 41 0.4880952 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGTCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 2325 635 0.9942875 0.9974296 0.9958586 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.06911066 0.2617301 0.99275 0.8304381 NA 0.1654204 NA FALSE NA 0.997 3.728 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(0.54) benign(0.369) NA GGC G,A 3.309e-05 6:83560907 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 1.572025 0.4039 0.63649 0.554377 0.9800775 0 0.9743507 TRUE 2.84954e-05 ENSE00002364301_016 ENSE00002364301 016 6 84270545 84270714 - 38 84 48 C A 84270627 1938 88 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTTCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560907 83560908 83560908 exon 40 0.4761905 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTTCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 1004 719 0.9957559 0.998645 0.9972005 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.0705791 0.2629455 0.99275 0.8304381 NA 0.1667623 NA FALSE NA 0.198 0.655 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(0.49) benign(0.091) NA GCA C,A 8.273e-06 6:83560908 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant -1.039072 0.20835 0.09552 0.554377 0.4570139 0 0.9743507 TRUE 8.14054e-06 ENSE00002364301_017 ENSE00002364301 017 6 84270545 84270714 - 38 84 48 A T 84270631 1939 84 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCAGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560911 83560912 83560912 exon 36 0.4285714 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCAGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 1516 1449 0.9811641 0.9974056 0.9892848 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.05598726 0.2617061 0.99275 0.8304381 NA 0.1588467 NA FALSE NA 0.323 -0.165 . synonymous_variant LOW SNAP91 HGNC 14986 ENST00000439399 27/30 1 NA CAG A,T 8.274e-06 6:83560912 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 synonymous_variant -1.321284 0.61146 0.08348 0.554377 0.530548 0 0.9743507 TRUE 4.07113e-06 ENSE00002364301_018 ENSE00002364301 018 6 84270545 84270714 - 38 84 48 G A 84270633 1940 82 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTTCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560913 83560914 83560914 exon 34 0.4047619 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTTCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 1239 578 0.9985966 0.9977221 0.9981593 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07341975 0.2620226 0.99275 0.8304381 NA 0.1677212 NA FALSE NA 1 4.743 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(0.17) probably_damaging(0.986) NA GGA G,A 8.274e-06 6:83560914 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 2.810821 0.98303 0.93088 0.554377 0.9962248 0 0.9743507 TRUE 8.14359e-06 ENSE00002364301_019 ENSE00002364301 019 6 84270545 84270714 - 38 84 48 G A 84270647 1941 68 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAATCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560927 83560928 83560928 exon 20 0.2380952 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAATCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 962 910 0.9932408 0.937041 0.9651409 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.06806399 0.2013415 0.99275 0.8304381 NA 0.1347027 NA FALSE NA 0.998 2.663 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(0.07) possibly_damaging(0.541) NA GGT G,A 8.274e-06 6:83560928 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 4.748946 0.98115 0.79376 0.554377 0.9968827 0 0.9743507 TRUE 4.12899e-06 ENSE00002364301_020 ENSE00002364301 020 6 84270545 84270714 - 38 84 48 T C 84270648 1942 67 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAGCCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560928 83560929 83560929 exon 19 0.2261905 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAGCCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 3211 315 0.9870823 0.9642956 0.975689 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.0619055 0.2285961 0.99275 0.8304381 NA 0.1452508 NA FALSE NA 0.995 0.387 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(1) benign(0.012) NA GTT T,C 8.274e-06 6:83560929 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant -0.044512 0.95068 0.21733 0.554377 0.7704053 0 0.9743507 TRUE 4.12988e-06 ENSE00002364301_021 ENSE00002364301 021 6 84270545 84270714 - 38 84 48 C T 84270657 1943 58 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTATACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560937 83560938 83560938 exon 10 0.1190476 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTATACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 490 534 0.9936851 0.9997037 0.9966944 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.06850834 0.2640042 0.99275 0.8304381 NA 0.1662563 NA FALSE NA 1 2.702 . missense_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(0.19) possibly_damaging(0.891) NA ACA C,T 8.274e-06 6:83560938 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 4.418978 0.97442 0.83912 0.554377 0.9891596 0 0.9743507 TRUE 8.41411e-06 ENSE00002364301_023 ENSE00002364301 023 6 84270545 84270714 - 38 84 48 T G 84270664 1945 51 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCACGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560944 83560945 83560945 exon 3 0.03571429 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCACGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 123 394 1 1 1 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07482319 0.2643005 0.99275 0.8304381 NA 0.1695619 NA FALSE NA 1 1.388 . missense_variant&splice_region_variant MODERATE SNAP91 HGNC 14986 ENST00000439399 27/30 1 tolerated(0.25) probably_damaging(0.976) NA CTT T,G 8.275e-06 6:83560945 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 missense_variant 4.417952 0.9881 0.94308 0.554377 0.9884322 0 0.9743507 TRUE 4.30467e-06 ENSE00002364301_024 ENSE00002364301 024 6 84270545 84270714 - 38 84 48 C T 84270670 1946 45 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTATAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560950 83560951 83560951 upstr_intron -4 -0.0625 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTATAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 737 761 1 0.999742 0.999871 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07482319 0.2640425 0.99275 0.8304381 NA 0.1694329 NA FALSE NA 0 -1.278 . splice_region_variant&intron_variant LOW SNAP91 HGNC 14986 ENST00000439399 26/29 rs553483697 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACA C,T 8.275e-06 6:83560951 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 splice_region_variant 0.604153 0.14393 0.00497 0.053691 0.6641369 0.0528747 0.9743507 TRUE 4.44907e-06 ENSE00002364301_025 ENSE00002364301 025 6 84270545 84270714 - 38 84 48 C G 84270672 1947 43 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTCTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560952 83560953 83560953 upstr_intron -6 -0.1041667 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTCTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 2030 779 0.9976857 1 0.9988429 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07250891 0.2643005 0.99275 0.8304381 NA 0.1684047 NA FALSE NA 0.002 -0.335 . splice_region_variant&intron_variant LOW SNAP91 HGNC 14986 ENST00000439399 26/29 1 NA ACA C,G 8.275e-06 6:83560953 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 splice_region_variant -0.171984 0.23575 0.13238 0.053691 0.3401385 0.0528747 0.9743507 TRUE 4.50909e-06 ENSE00002364301_026 ENSE00002364301 026 6 84270545 84270714 - 38 84 48 A G 84270673 1948 42 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCCGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560953 83560954 83560954 upstr_intron -7 -0.125 TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCCGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 793 732 0.9974782 0.8022107 0.8998445 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07230144 0.06651123 0.99275 0.8304381 NA 0.06940633 NA FALSE NA 0.004 0.149 . splice_region_variant&intron_variant LOW SNAP91 HGNC 14986 ENST00000439399 26/29 1 NA CAG A,G 8.275e-06 6:83560954 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 splice_region_variant -0.183612 0.36555 0.00905 0.053691 0.4146908 0.859274 0.9743507 TRUE 4.5303e-06 ENSE00002364301_027 ENSE00002364301 027 6 84270545 84270714 - 38 84 48 A T 84270683 1949 32 TGTGTGTTTTTGTGTTATTTATATGTGTATGACTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560963 83560964 83560964 upstr_intron -17 -0.3333333 TGTGTGTTTTTGTGTTATTTATATGTGTATGACTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 184 285 1 0.9980924 0.9990462 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07482319 0.2623929 0.99275 0.8304381 NA 0.168608 NA FALSE NA 0.009 0.241 . intron_variant MODIFIER SNAP91 HGNC 14986 ENST00000439399 26/29 1 NA GAC A,T 8.275e-06 6:83560964 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 intron_variant 0.022606 0.28071 0.14627 0.053691 0.6657745 0.0455939 0.9743507 TRUE 4.75439e-06 ENSE00002364301_028 ENSE00002364301 028 6 84270545 84270714 - 38 84 48 T C 84270686 1950 29 TGTGTGTTTTTGTGTTATTTATATGTGTGTGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560966 83560967 83560967 upstr_intron -20 -0.3958333 TGTGTGTTTTTGTGTTATTTATATGTGTGTGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 383 558 1 0.9999318 0.9999659 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.07482319 0.2642323 0.99275 0.8304381 NA 0.1695277 NA FALSE NA 0 -0.156 . intron_variant MODIFIER SNAP91 HGNC 14986 ENST00000439399 26/29 1 NA ATA T,C 8.275e-06 6:83560967 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 intron_variant -0.315156 0.09033 0.00572 0.053691 0.6002285 0.0455939 0.9743507 TRUE 4.78583e-06 ENSE00002364301_030 ENSE00002364301 030 6 84270545 84270714 - 38 84 48 A C 84270695 1952 20 TGTGTGTTTTTGTGTTATTGATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 83560975 83560976 83560976 upstr_intron -29 -0.5833333 TGTGTGTTTTTGTGTTATTGATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT mutant NA NA NA NA NA 873 1873 0.9394922 0.9729789 0.9562356 0.992732 0.992768 0.9251768 0.7356995 NA NA 0.01431541 0.2372794 0.99275 0.8304381 NA 0.1257974 NA FALSE NA 0.025 0.066 . intron_variant MODIFIER SNAP91 HGNC 14986 ENST00000439399 26/29 1 NA TAA A,C 8.275e-06 6:83560976 SNAP91 HGNC Symbol protein_coding 156811 ENSG00000065609 ENSE00003677410 intron_variant -0.313285 0.22624 0.06173 0.053691 0.1751217 0.0455939 0.9743507 TRUE 5.16796e-06 ENSE00002364301_BRK ENSE00002364301 BRK 6 84270545 84270714 - 38 84 48 A,G; T,T NA NA NA TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTTTCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGCCGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT 83560825 83560995 NA NA NA NA NA NA TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTTTCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGCCGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT TGTGTGTTTTTGTGTTATTTATATGTGTATGTCTGTCTATCTGTGTAGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGGTGAGTGATGACGTGTGCTAAAAATTGTAATCAACATT control 82 179 0 0 0 NA NA NA NA NA 0.992732 0.992768 0.9251768 0.7356995 -0.992732 -0.992768 NA NA 0.99275 0.8304381 -0.99275 NA NA NA TRUE NA NA NA NA NA SNAP91 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNAP91 NA NA NA ENSG00000065609 ENSE00003677410 NA NA NA NA NA NA NA 0.9743507 TRUE NA ENSE00002364667_000 ENSE00002364667 000 2 169551425 169551594 + 44 93 33 NA NA NA NA NA CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG 168694914 168695084 NA NA NA NA NA NA CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG natural NA NA NA NA NA 1445 138 0.9561753 0.9977628 0.9769691 NA NA 0.9561753 0.9977628 NA NA 0 0 NA 0.9769691 NA 0 NA FALSE NA NA NA NA NA NA CERS6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CERS6 NA NA NA ENSG00000172292 ENSE00002364667 NA NA NA NA NA NA NA 0.6845413 FALSE NA ENSE00002364667_005 ENSE00002364667 005 2 169551425 169551594 + 44 93 33 C A 169551462 3120 38 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCAACTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG 168694914 168695084 168694951 168694952 168694952 upstr_intron -7 -0.1363636 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCAACTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG mutant NA NA NA NA NA 40 50 1 1 1 NA NA 0.9561753 0.9977628 NA NA 0.04382473 0.002237161 NA 0.9769691 NA 0.02303094 NA FALSE NA 0.428 0.315 . splice_region_variant&intron_variant LOW CERS6 HGNC 23826 ENST00000305747 5/9 1 NA ACC C,A 8.237e-06 2:168694952 CERS6 HGNC Symbol protein_coding 319275 ENSG00000172292 ENSE00002364667 splice_region_variant 0.287698 0.2967 0.18274 0.295142 0.2585499 0.185512 0.6845413 FALSE 4.12055e-06 ENSE00002364667_006 ENSE00002364667 006 2 169551425 169551594 + 44 93 33 C T 169551470 3121 46 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCTACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG 168694914 168695084 168694959 168694960 168694960 exon 2 0.02150538 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCTACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG mutant NA NA NA NA NA 15 16 0.8 1 0.9 NA NA 0.9561753 0.9977628 NA NA -0.1561753 0.002237161 NA 0.9769691 NA -0.07696906 NA FALSE NA 1 4.756 . missense_variant&splice_region_variant MODERATE CERS6 HGNC 23826 ENST00000305747 6/10 1 deleterious(0.01) possibly_damaging(0.765) NA CCA C,T 1.647e-05 2:168694960 CERS6 HGNC Symbol protein_coding 319275 ENSG00000172292 ENSE00002364667 missense_variant 6.490078 0.98762 0.94858 0.706298 0.9983728 0 0.6845413 FALSE 4.07787e-06 ENSE00002364667_007 ENSE00002364667 007 2 169551425 169551594 + 44 93 33 C T 169551476 3122 52 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCATAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG 168694914 168695084 168694965 168694966 168694966 exon 8 0.08602151 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCATAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG mutant NA NA NA NA NA 36 466 0.8 1 0.9 NA NA 0.9561753 0.9977628 NA NA -0.1561753 0.002237161 NA 0.9769691 NA -0.07696906 NA FALSE NA 0.998 2.916 . missense_variant MODERATE CERS6 HGNC 23826 ENST00000305747 6/10 1 deleterious(0.01) benign(0.034) NA ACA C,T 1.647e-05 2:168694966 CERS6 HGNC Symbol protein_coding 319275 ENSG00000172292 ENSE00002364667 missense_variant 3.601422 0.98712 0.89324 0.706298 0.9893898 0 0.6845413 FALSE 8.1324e-06 ENSE00002364667_010 ENSE00002364667 010 2 169551425 169551594 + 44 93 33 C T 169551484 3125 60 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACTTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG 168694914 168695084 168694973 168694974 168694974 exon 16 0.172043 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACTTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG mutant NA NA NA NA NA 21 81 1 0.9845369 0.9922685 NA NA 0.9561753 0.9977628 NA NA 0.04382473 -0.0132259 NA 0.9769691 NA 0.01529941 NA FALSE NA 1 1.366 rs148548835 missense_variant MODERATE CERS6 HGNC 23826 ENST00000305747 6/10 rs148548835&COSM1009069 1 deleterious(0.02) benign(0.124) NA T:0 T:0.0002 CCT C,T 0.0001235 2:168694974 CERS6 HGNC Symbol protein_coding 319275 ENSG00000172292 ENSE00002364667 missense_variant 4.252172 0.96973 0.7389 0.706298 0.9983462 0 0.6845413 FALSE 7.31808e-05 ENSE00002364667_020 ENSE00002364667 020 2 169551425 169551594 + 44 93 33 C T 169551569 3135 145 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGTGGTTATGTCGTAAAGTGCTTGCAAG 168694914 168695084 168695058 168695059 168695059 downstr_intron 8 1.25 CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGTGGTTATGTCGTAAAGTGCTTGCAAG CCCTATTAACTACTAATCATTCCTTTTTTTTCTTTCACCTTCAGCCACTCACAACTGACCTTCACTACTATTACATCCTGGAGCTGTCGTTTTATTGGTCTTTGATGTTTTCTCAGTTCACTGATATCAAAAGAAAGGTAAGAGCGGTTATGTCGTAAAGTGCTTGCAAG mutant NA NA NA NA NA 112 82 0.95 1 0.975 NA NA 0.9561753 0.9977628 NA NA -0.006175273 0.002237161 NA 0.9769691 NA -0.001969056 NA FALSE NA 0 -0.965 . splice_region_variant&intron_variant LOW CERS6 HGNC 23826 ENST00000305747 6/9 rs374333060 1 NA T:0 T:0.0001 GCG C,T 5.766e-05 2:168695059 CERS6 HGNC Symbol protein_coding 319275 ENSG00000172292 ENSE00002364667 splice_region_variant 1.744205 0.15689 0.01344 0.099367 0.7920352 0.229984 0.6845413 FALSE 6.92306e-05 ENSE00002365228_000 ENSE00002365228 000 1 155644765 155644934 - 36 87 47 NA NA NA NA NA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 NA NA NA NA NA NA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA natural 37 22 0.9930645 0.9979063 0.9954854 4829 5358 0.9927224 0.9511175 0.9719199 0.9930645 0.9979063 0.9927224 0.9511175 0 0 0 0 0.9954854 0.9719199 0 0 0 FALSE FALSE NA NA NA NA NA YY1AP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YY1AP1 NA NA NA ENSG00000163374 ENSE00003507066 NA NA NA NA NA NA NA 0.0001452213 FALSE NA ENSE00002365228_002 ENSE00002365228 002 1 155644765 155644934 - 36 87 47 G A 155644783 3653 152 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCTGTAATTCTATAGACTAGA 155674973 155675143 155674991 155674992 155674992 downstr_intron 18 1.514286 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCTGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant 104 90 0.9992333 0.9951093 0.9971713 477 465 0.9987858 0.9999181 0.999352 0.9930645 0.9979063 0.9927224 0.9511175 0.006168752 -0.002796977 0.006063461 0.04880064 0.9954854 0.9719199 0.001685888 0.02743205 0.02574616 FALSE FALSE 0.001 0.707 . intron_variant MODIFIER YY1AP1 HGNC 30935 ENST00000438245 5/6 1 NA CGG G,A 1.647e-05 1:155674992 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 intron_variant -0.133311 0.10392 0.03852 0.295142 0.7217986 0.046875 0.0001452213 FALSE 1.62606e-05 ENSE00002365228_003 ENSE00002365228 003 1 155644765 155644934 - 36 87 47 T C 155644790 3654 145 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCGAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155674998 155674999 155674999 downstr_intron 11 1.314286 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCGAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 907 815 0.8707278 0.9990133 0.9348706 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.1219946 0.04789585 0.9954854 0.9719199 NA -0.03704937 NA FALSE NA 0.024 0.396 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:155674999 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 intron_variant 0.391505 0.15972 0.04177 0.295142 0.6040464 0.046875 0.0001452213 FALSE 0.000199132 ENSE00002365228_004 ENSE00002365228 004 1 155644765 155644934 - 36 87 47 T G 155644790 3655 145 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCCAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155674998 155674999 155674999 downstr_intron 11 1.314286 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCCAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 204 693 0.8801451 0.9998901 0.9400176 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.1125773 0.04877261 0.9954854 0.9719199 NA -0.03190233 NA FALSE NA 0.024 0.396 NA NA NA YY1AP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YY1AP1 NA NA NA ENSG00000163374 ENSE00003507066 intron_variant 0.479457 0.17109 0.05066 0.295142 0.5900083 0.046875 0.0001452213 FALSE 4.06392e-06 ENSE00002365228_005 ENSE00002365228 005 1 155644765 155644934 - 36 87 47 A G 155644806 3656 129 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATACGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675014 155675015 155675015 exon -6 0.9425287 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATACGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 369 223 0.9977479 0.997045 0.9973964 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.005025492 0.04592753 0.9954854 0.9719199 NA 0.02547651 NA FALSE NA 1 4.302 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 deleterious(0) benign(0.162) NA CAT A,G 8.237e-06 1:155675015 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 1.86443 0.95655 0.95433 0.706548 0.9696534 0 0.0001452213 FALSE 4.06121e-06 ENSE00002365228_006 ENSE00002365228 006 1 155644765 155644934 - 36 87 47 T C 155644807 3657 128 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATGTGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675015 155675016 155675016 exon -7 0.9310345 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATGTGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 13 254 0.9879966 1 0.9939983 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.004725769 0.04888252 0.9954854 0.9719199 NA 0.02207838 NA FALSE NA 1 0.521 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 rs374748241 1 tolerated(0.54) benign(0.087) NA C:0.0002 C:0 ATA T,C 2.471e-05 1:155675016 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 0.667292 0.92798 0.5239 0.706548 0.7177666 0 0.0001452213 FALSE 2.43694e-05 ENSE00002365228_007 ENSE00002365228 007 1 155644765 155644934 - 36 87 47 T A 155644815 3658 120 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCTCCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675023 155675024 155675024 exon -15 0.8390805 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCTCCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 859 112 0.9872661 0.9971996 0.9922329 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.005456248 0.04608216 0.9954854 0.9719199 NA 0.02031296 NA FALSE NA 1 3.108 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:155675024 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 3.312402 0.96873 0.92801 0.706548 0.985074 0 0.0001452213 FALSE 4.06105e-06 ENSE00002365228_008 ENSE00002365228 008 1 155644765 155644934 - 36 87 47 T C 155644815 3659 120 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCGCCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675023 155675024 155675024 exon -15 0.8390805 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCGCCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 1635 1555 0.9991664 0.8804005 0.9397835 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.006444026 -0.07071694 0.9954854 0.9719199 NA -0.03213646 NA FALSE NA 1 3.108 NA NA NA YY1AP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YY1AP1 NA NA NA ENSG00000163374 ENSE00003507066 missense_variant 3.40181 0.96794 0.95801 0.706548 0.997771 0 0.0001452213 FALSE 4.06105e-06 ENSE00002365228_009 ENSE00002365228 009 1 155644765 155644934 - 36 87 47 C T 155644825 3660 110 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAAGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675033 155675034 155675034 exon -25 0.7241379 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAAGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 1699 1395 0.9636994 0.9963169 0.9800081 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.02902298 0.04519939 0.9954854 0.9719199 NA 0.008088203 NA FALSE NA 1 0.896 . synonymous_variant LOW YY1AP1 HGNC 30935 ENST00000438245 5/7 1 NA CCT C,T 8.236e-06 1:155675034 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 synonymous_variant 1.137206 0.947 0.74153 0.706548 0.6577531 0 0.0001452213 FALSE 4.06085e-06 ENSE00002365228_010 ENSE00002365228 010 1 155644765 155644934 - 36 87 47 C T 155644828 3661 107 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCAGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675036 155675037 155675037 exon -28 0.6896552 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCAGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant 247 387 0.85 0.847131 0.8485655 1324 3698 0.9457296 0.9523426 0.9490361 0.9930645 0.9979063 0.9927224 0.9511175 -0.1430645 -0.1507753 -0.04699283 0.001225089 0.9954854 0.9719199 -0.1469199 -0.02288387 0.1240361 FALSE FALSE 0.005 -2.042 . synonymous_variant LOW YY1AP1 HGNC 30935 ENST00000438245 5/7 rs367625562&COSM896965 1 NA T:0.0002 T:0 CCG C,T 4.942e-05 1:155675037 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 synonymous_variant 1.409436 0.52485 0.01879 0.706548 0.7596802 0 0.0001452213 FALSE 6.49725e-05 ENSE00002365228_011 ENSE00002365228 011 1 155644765 155644934 - 36 87 47 G A 155644829 3662 106 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCTGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675037 155675038 155675038 exon -29 0.6781609 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCTGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 381 215 0.9909516 0.9783308 0.9846412 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.001770749 0.02721327 0.9954854 0.9719199 NA 0.01272126 NA FALSE NA 0.802 2.33 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 tolerated(0.05) benign(0.005) NA CGG G,A 2.471e-05 1:155675038 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 1.445629 0.80746 0.77899 0.706548 0.7349186 0 0.0001452213 FALSE 2.03046e-05 ENSE00002365228_013 ENSE00002365228 013 1 155644765 155644934 - 36 87 47 T C 155644832 3664 103 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAGTCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675040 155675041 155675041 exon -32 0.6436782 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAGTCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant 20 111 0 0 0 1717 835 0.9803161 0.9962738 0.9882949 0.9930645 0.9979063 0.9927224 0.9511175 -0.9930645 -0.9979063 -0.01240629 0.04515632 0.9954854 0.9719199 -0.9954854 0.01637502 1.01186 FALSE TRUE 0.742 0.133 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 tolerated(1) benign(0.002) NA ATT T,C 8.236e-06 1:155675041 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant -2.790414 0.71527 0.01008 0.706548 0.4298458 0 0.0001452213 FALSE 1.2182e-05 ENSE00002365228_014 ENSE00002365228 014 1 155644765 155644934 - 36 87 47 T C 155644838 3665 97 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAGTCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675046 155675047 155675047 exon -38 0.5747126 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAGTCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 1473 1277 0.9336525 1 0.9668263 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.05906987 0.04888252 0.9954854 0.9719199 NA -0.005093677 NA FALSE NA 0.05 -1.387 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 COSM1600927&COSM1600926 1 tolerated(1) benign(0.006) NA ATT T,C 8.236e-06 1:155675047 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant -1.68093 0.7889 0.02554 0.706548 0.668438 0 0.0001452213 FALSE 8.1213e-06 ENSE00002365228_015 ENSE00002365228 015 1 155644765 155644934 - 36 87 47 G A 155644842 3666 93 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACTCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675050 155675051 155675051 exon -42 0.5287356 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACTCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 611 1788 1 0.9970243 0.9985122 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.007277619 0.04590683 0.9954854 0.9719199 NA 0.02659223 NA FALSE NA 1 2.638 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 deleterious(0.03) benign(0.255) NA GGG G,A 8.236e-06 1:155675051 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 2.892189 0.95912 0.89092 0.706548 0.9749398 0 0.0001452213 FALSE 4.06065e-06 ENSE00002365228_016 ENSE00002365228 016 1 155644765 155644934 - 36 87 47 G A 155644878 3667 57 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGTTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675086 155675087 155675087 exon 10 0.1149425 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGTTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 323 615 0.9606772 0.9729234 0.9668003 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.03204516 0.02180592 0.9954854 0.9719199 NA -0.005119621 NA FALSE NA 1 6.212 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 deleterious(0.02) probably_damaging(0.972) NA AGC G,A 8.236e-06 1:155675087 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 5.821796 0.97791 0.97044 0.706548 0.998965 0 0.0001452213 FALSE 4.06085e-06 ENSE00002365228_017 ENSE00002365228 017 1 155644765 155644934 - 36 87 47 T C 155644880 3668 55 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCGGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675088 155675089 155675089 exon 8 0.09195402 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCGGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 1726 543 0.9992 0.9858421 0.9925211 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.006477607 0.03472467 0.9954854 0.9719199 NA 0.02060114 NA FALSE NA 1 5.054 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 deleterious(0) possibly_damaging(0.624) NA CTG T,C 2.471e-05 1:155675089 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 5.218943 0.9732 0.95903 0.706548 0.9970907 0 0.0001452213 FALSE 1.21829e-05 ENSE00002365228_018 ENSE00002365228 018 1 155644765 155644934 - 36 87 47 A G 155644883 3669 52 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGCTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675091 155675092 155675092 exon 5 0.05747126 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGCTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 528 371 0.994658 0.9947005 0.9946792 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.001935581 0.04358299 0.9954854 0.9719199 NA 0.02275928 NA FALSE NA 1 5.881 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 deleterious(0) possibly_damaging(0.72) NA AAC A,G 8.236e-06 1:155675092 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 5.639146 0.97491 0.97374 0.706548 0.9978743 0 0.0001452213 FALSE 4.06091e-06 ENSE00002365228_019 ENSE00002365228 019 1 155644765 155644934 - 36 87 47 C T 155644884 3670 51 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATATTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675092 155675093 155675093 exon 4 0.04597701 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATATTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 825 1113 1 0.9995199 0.9997599 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.007277619 0.04840238 0.9954854 0.9719199 NA 0.02784 NA FALSE NA 1 4.921 . missense_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 tolerated(0.05) possibly_damaging(0.628) NA ACA C,T 8.236e-06 1:155675093 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 6.041355 0.97739 0.96046 0.706548 0.997621 0 0.0001452213 FALSE 8.12196e-06 ENSE00002365228_020 ENSE00002365228 020 1 155644765 155644934 - 36 87 47 A G 155644885 3671 50 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCACGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675093 155675094 155675094 exon 3 0.03448276 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCACGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 815 877 0.9977053 1 0.9988527 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.004982936 0.04888252 0.9954854 0.9719199 NA 0.02693273 NA FALSE NA 0.972 0.062 rs142578434 splice_region_variant&synonymous_variant LOW YY1AP1 HGNC 30935 ENST00000438245 5/7 rs142578434 1 NA G:0.0002 G:0 CAT A,G 1.647e-05 1:155675094 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 splice_region_variant 0.785785 0.93116 0.70097 0.706548 0.789003 0 0.0001452213 FALSE 4.06098e-06 ENSE00002365228_021 ENSE00002365228 021 1 155644765 155644934 - 36 87 47 T C 155644886 3672 49 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCGTGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675094 155675095 155675095 exon 2 0.02298851 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCGTGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 623 562 0.9965383 0.9917501 0.9941442 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.003815891 0.0406326 0.9954854 0.9719199 NA 0.02222424 NA FALSE NA 1 5.054 . missense_variant&splice_region_variant MODERATE YY1AP1 HGNC 30935 ENST00000438245 5/7 1 deleterious(0) possibly_damaging(0.868) NA ATG T,C 8.236e-06 1:155675095 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 missense_variant 4.766685 0.9732 0.95903 0.706548 0.9958922 0 0.0001452213 FALSE 4.06095e-06 ENSE00002365228_022 ENSE00002365228 022 1 155644765 155644934 - 36 87 47 T C 155644889 3673 46 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCGGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675097 155675098 155675098 upstr_intron -2 -0.0212766 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCGGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant 165 121 0 0 0 761 171 0.01236916 0.155029 0.08369909 0.9930645 0.9979063 0.9927224 0.9511175 -0.9930645 -0.9979063 -0.9803532 -0.7960884 0.9954854 0.9719199 -0.9954854 -0.8882208 0.1072646 TRUE TRUE 1 5.054 . splice_acceptor_variant HIGH YY1AP1 HGNC 30935 ENST00000438245 4/6 1 NA HC CTG T,C 8.236e-06 1:155675098 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 splice_acceptor_variant 4.125075 0.9732 0.95903 0.256867 0.970298 0.720456 0.0001452213 FALSE 4.06147e-06 ENSE00002365228_023 ENSE00002365228 023 1 155644765 155644934 - 36 87 47 G C 155644890 3674 45 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCGAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675098 155675099 155675099 upstr_intron -3 -0.04255319 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCGAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant 172 167 0 0 0 NA NA NA NA NA 0.9930645 0.9979063 0.9927224 0.9511175 -0.9930645 -0.9979063 NA NA 0.9954854 0.9719199 -0.9954854 NA NA NA TRUE 0.998 1.711 . splice_region_variant&intron_variant LOW YY1AP1 HGNC 30935 ENST00000438245 4/6 rs370306346 1 NA C:0 C:0.0001 TGG G,C 1.647e-05 1:155675099 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 splice_region_variant 1.173226 0.95473 0.88782 0.256867 0.8523932 0.189343 0.0001452213 FALSE 8.12269e-06 ENSE00002365228_024 ENSE00002365228 024 1 155644765 155644934 - 36 87 47 G A 155644895 3675 40 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTTTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675103 155675104 155675104 upstr_intron -8 -0.1489362 TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTTTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 344 923 0.9051555 0.9992127 0.9521841 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.0875669 0.04809525 0.9954854 0.9719199 NA -0.01973583 NA FALSE NA 0.001 0.731 . splice_region_variant&intron_variant LOW YY1AP1 HGNC 30935 ENST00000438245 4/6 rs564650826 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGA G,A 8.236e-06 1:155675104 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 splice_region_variant 1.155094 0.66014 0.44394 0.115753 0.7316139 0.128689 0.0001452213 FALSE 4.0618e-06 ENSE00002365228_025 ENSE00002365228 025 1 155644765 155644934 - 36 87 47 A T 155644912 3676 23 TGGCAGTGTCATAACATATCACAGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675120 155675121 155675121 upstr_intron -25 -0.5106383 TGGCAGTGTCATAACATATCACAGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 893 535 0.96404 1 0.98202 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.02868239 0.04888252 0.9954854 0.9719199 NA 0.01010007 NA FALSE NA 0.001 0.313 . intron_variant MODIFIER YY1AP1 HGNC 30935 ENST00000438245 4/6 1 NA CAG A,T 5.766e-05 1:155675121 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 intron_variant 0.456044 0.12682 0.06143 0.115753 0.7266753 0.0476178 0.0001452213 FALSE 4.87979e-05 ENSE00002365228_026 ENSE00002365228 026 1 155644765 155644934 - 36 87 47 T C 155644919 3677 16 TGGCAGTGTCATAACGTATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 155675127 155675128 155675128 upstr_intron -32 -0.6595745 TGGCAGTGTCATAACGTATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA mutant NA NA NA NA NA 954 488 0.9987125 0.9928988 0.9958056 0.9930645 0.9979063 0.9927224 0.9511175 NA NA 0.005990084 0.04178132 0.9954854 0.9719199 NA 0.0238857 NA FALSE NA 0 -1.283 . intron_variant MODIFIER YY1AP1 HGNC 30935 ENST00000438245 4/6 1 NA ATG T,C 8.237e-06 1:155675128 YY1AP1 HGNC Symbol protein_coding 29557 ENSG00000163374 ENSE00003507066 intron_variant 0.469827 0.12069 0.01416 0.115753 0.8386464 0.0476178 0.0001452213 FALSE NA ENSE00002365228_BRK ENSE00002365228 BRK 1 155644765 155644934 - 36 87 47 A,G; T,T NA NA NA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCTTCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTCCAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA 155674973 155675143 NA NA NA NA NA NA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCTTCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTCCAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA TGGCAGTGTCATAACATATCACTGCATTATTTTCTTTCTCTCCCCAGCATGTTCAGCTCTTGACACAAATCCACCTTCTTGCCACCTGCAACCCCAATCTCAATCCGGAGGCCAGTAGCACCAGGATATGTCTTGTAAGTTTCCAAATTGCCGTAATTCTATAGACTAGA control NA NA NA NA NA 880 268 0.05762409 0.03293378 0.04527893 0.9930645 0.9979063 0.9927224 0.9511175 NA NA -0.9350983 -0.9181837 0.9954854 0.9719199 NA -0.926641 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA YY1AP1 NA NA NA ENSG00000163374 ENSE00003507066 NA NA NA NA NA NA NA 0.0001452213 FALSE NA ENSE00002365239_000 ENSE00002365239 000 3 107463427 107463596 + 50 81 39 NA NA NA NA NA TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 NA NA NA NA NA NA TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT natural NA NA NA NA NA 4163 3011 0.9905669 0.9408023 0.9656846 NA NA 0.9905669 0.9408023 NA NA 0 0 NA 0.9656846 NA 0 NA FALSE NA NA NA NA NA NA BBX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BBX NA NA NA ENSG00000114439 ENSE00003479990 NA NA NA NA NA NA NA 0.9580978 TRUE NA ENSE00002365239_001 ENSE00002365239 001 3 107463427 107463596 + 50 81 39 A G 107463460 2195 34 TAACACAGTAAATAGTACAAAAGAAAATATGATGTCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744612 107744613 107744613 upstr_intron -17 -0.32 TAACACAGTAAATAGTACAAAAGAAAATATGATGTCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 43 433 1 0.9869965 0.9934982 NA NA 0.9905669 0.9408023 NA NA 0.009433138 0.04619414 NA 0.9656846 NA 0.02781364 NA FALSE NA 0 -0.23 . intron_variant MODIFIER BBX HGNC 14422 ENST00000416476 7/16 1 NA TAT A,G 1.648e-05 3:107744613 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 intron_variant -0.129751 0.15223 0.00713 0.078448 0.4363174 0.192968 0.9580978 TRUE 8.14213e-06 ENSE00002365239_002 ENSE00002365239 002 3 107463427 107463596 + 50 81 39 C G 107463462 2196 36 TAACACAGTAAATAGTACAAAAGAAAATATGATATGTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744614 107744615 107744615 upstr_intron -15 -0.28 TAACACAGTAAATAGTACAAAAGAAAATATGATATGTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 100 227 0.9962363 0.993178 0.9947071 NA NA 0.9905669 0.9408023 NA NA 0.005669411 0.05237568 NA 0.9656846 NA 0.02902255 NA FALSE NA 0.001 0.183 . intron_variant MODIFIER BBX HGNC 14422 ENST00000416476 7/16 1 NA TCT C,G 1.647e-05 3:107744615 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 intron_variant -0.16027 0.22586 0.07603 0.162113 0.5356824 0.192968 0.9580978 TRUE 8.14147e-06 ENSE00002365239_003 ENSE00002365239 003 3 107463427 107463596 + 50 81 39 T C 107463469 2197 43 AATTTCCTCATTAGTTAAGTATCAATTGTAATATATTACCTCGGCAAACTGAAACAATGGTGACTTCTGACGTAATTCAGGAGATTCTGAAACATCAGGCCTGCATGTGCCAGAGGATACCTGAAACGAAGAAAGATATCATATTTTCTTTTGTACTATTTACTGTGTTA 107744579 107744749 107744621 107744622 107744622 upstr_intron -8 -0.14 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTCGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 747 716 1 0.9999468 0.9999734 NA NA 0.9905669 0.9408023 NA NA 0.009433138 0.05914452 NA 0.9656846 NA 0.03428883 NA FALSE NA 0.002 1.181 . splice_region_variant&intron_variant LOW BBX HGNC 14422 ENST00000416476 7/16 1 NA TTG T,C 8.236e-06 3:107744622 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 splice_region_variant 0.911429 0.24659 0.05893 0.162113 0.6392846 0.401183 0.9580978 TRUE 4.06904e-06 ENSE00002365239_005 ENSE00002365239 005 3 107463427 107463596 + 50 81 39 A G 107463479 2199 53 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTGTCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744631 107744632 107744632 exon 3 0.03703704 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTGTCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 230 485 1 0.9996738 0.9998369 NA NA 0.9905669 0.9408023 NA NA 0.009433138 0.05887147 NA 0.9656846 NA 0.0341523 NA FALSE NA 0.198 -0.168 . splice_region_variant&synonymous_variant LOW BBX HGNC 14422 ENST00000416476 8/17 1 NA TAT A,G 8.236e-06 3:107744632 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 splice_region_variant 1.644761 0.73244 0.22442 0.706298 0.8539087 0 0.9580978 TRUE 4.06762e-06 ENSE00002365239_007 ENSE00002365239 007 3 107463427 107463596 + 50 81 39 A C 107463489 2201 63 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCCCATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744641 107744642 107744642 exon 13 0.1604938 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCCCATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 93 506 1 0.9973234 0.9986617 NA NA 0.9905669 0.9408023 NA NA 0.009433138 0.05652109 NA 0.9656846 NA 0.03297711 NA FALSE NA 0 -0.455 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:107744642 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 missense_variant 1.880558 0.80038 0.05531 0.706298 0.9953085 0 0.9580978 TRUE 0.000215545 ENSE00002365239_008 ENSE00002365239 008 3 107463427 107463596 + 50 81 39 A G 107463489 2202 63 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCGCATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744641 107744642 107744642 exon 13 0.1604938 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCGCATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 515 428 0.9716585 1 0.9858292 NA NA 0.9905669 0.9408023 NA NA -0.01890839 0.05919769 NA 0.9656846 NA 0.02014465 NA FALSE NA 0 -0.455 NA NA NA BBX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BBX NA NA NA ENSG00000114439 ENSE00003479990 missense_variant 1.611787 0.7945 0.04077 0.706298 0.9835893 0 0.9580978 TRUE 4.06689e-06 ENSE00002365239_009 ENSE00002365239 009 3 107463427 107463596 + 50 81 39 A G 107463491 2203 65 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACGTGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744643 107744644 107744644 exon 15 0.1851852 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACGTGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 395 113 0.9945234 1 0.9972617 NA NA 0.9905669 0.9408023 NA NA 0.00395655 0.05919769 NA 0.9656846 NA 0.03157712 NA FALSE NA 0.311 0.145 . synonymous_variant LOW BBX HGNC 14422 ENST00000416476 8/17 1 NA CAT A,G 8.236e-06 3:107744644 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 synonymous_variant 0.534507 0.94645 0.15983 0.706298 0.7508284 0 0.9580978 TRUE 4.0664e-06 ENSE00002365239_010 ENSE00002365239 010 3 107463427 107463596 + 50 81 39 T C 107463492 2204 66 AATTTCCTCATTAGTTAAGTATCAATTGTAATATATTACCTCGGCAAACTGAAACAATGGTGACTTCTGACGTAATTCAGGAGATTCTGAAACATCAGGCCTGCGTGTGCCAGAGGATACCTGAAACAAAGAAAGATATCATATTTTCTTTTGTACTATTTACTGTGTTA 107744579 107744749 107744644 107744645 107744645 exon 16 0.1975309 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACACGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 1510 343 0.9997818 0.9880743 0.993928 NA NA 0.9905669 0.9408023 NA NA 0.009214902 0.04727194 NA 0.9656846 NA 0.02824342 NA FALSE NA 0.913 1.283 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 8/17 1 deleterious_low_confidence(0) possibly_damaging(0.852) NA ATG T,C 8.236e-06 3:107744645 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 missense_variant 5.421398 0.95702 0.59988 0.706298 0.997099 0 0.9580978 TRUE 4.06643e-06 ENSE00002365239_011 ENSE00002365239 011 3 107463427 107463596 + 50 81 39 A G 107463511 2205 85 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGGATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744663 107744664 107744664 exon 35 0.4320988 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGGATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 316 39 1 1 1 NA NA 0.9905669 0.9408023 NA NA 0.009433138 0.05919769 NA 0.9656846 NA 0.03431541 NA FALSE NA 1 4.874 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 8/17 rs372483002 1 deleterious_low_confidence(0.03) benign(0.051) NA G:0.0002 G:0 GAA A,G 1.647e-05 3:107744664 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 missense_variant 5.04492 0.97983 0.92272 0.706298 0.9976238 0 0.9580978 TRUE 2.03305e-05 ENSE00002365239_014 ENSE00002365239 014 3 107463427 107463596 + 50 81 39 A G 107463521 2208 95 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAGTTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744673 107744674 107744674 exon -37 0.5555556 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAGTTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 2758 301 0.9969497 0.9934474 0.9951985 NA NA 0.9905669 0.9408023 NA NA 0.006382856 0.05264505 NA 0.9656846 NA 0.02951395 NA FALSE NA 0.075 0.375 . synonymous_variant LOW BBX HGNC 14422 ENST00000416476 8/17 1 NA AAT A,G 1.647e-05 3:107744674 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 synonymous_variant 1.023228 0.95436 0.1566 0.706298 0.6831256 0 0.9580978 TRUE 1.21982e-05 ENSE00002365239_015 ENSE00002365239 015 3 107463427 107463596 + 50 81 39 C T 107463525 2209 99 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTATGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744677 107744678 107744678 exon -33 0.6049383 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTATGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 485 26 0.9951582 0.8584453 0.9268018 NA NA 0.9905669 0.9408023 NA NA 0.004591359 -0.08235697 NA 0.9656846 NA -0.0388828 NA FALSE NA 0.971 2.405 . missense_variant MODERATE BBX HGNC 14422 ENST00000416476 8/17 rs568783699&COSM1035992&COSM1593159 1 tolerated_low_confidence(0.17) benign(0.032) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 8.236e-06 3:107744678 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 missense_variant 6.621736 0.98013 0.65757 0.706298 0.9912757 0 0.9580978 TRUE 4.0663e-06 ENSE00002365239_016 ENSE00002365239 016 3 107463427 107463596 + 50 81 39 G T 107463526 2210 100 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACTTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT 107744579 107744749 107744678 107744679 107744679 exon -32 0.617284 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACTTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 614 287 0.9917572 1 0.9958786 NA NA 0.9905669 0.9408023 NA NA 0.001190322 0.05919769 NA 0.9656846 NA 0.03019401 NA FALSE NA 1 1.946 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:107744679 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 missense_variant 3.088799 0.97371 0.83228 0.706298 0.9913736 0 0.9580978 TRUE 4.0663e-06 ENSE00002365239_017 ENSE00002365239 017 3 107463427 107463596 + 50 81 39 G A 107463526 2211 100 AATTTCCTCATTAGTTAAGTATCAATTGTAATATATTACCTCGGCAAACTGAAACAATGGTGACTTCTGATGTAATTCAGGAGATTCTGAAACATCAGGCCTGCATGTGCCAGAGGATACCTGAAACAAAGAAAGATATCATATTTTCTTTTGTACTATTTACTGTGTTA 107744579 107744749 107744678 107744679 107744679 exon -32 0.617284 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACATCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 212 166 0.9982397 0.9990461 0.9986429 NA NA 0.9905669 0.9408023 NA NA 0.007672843 0.05824377 NA 0.9656846 NA 0.03295831 NA FALSE NA 1 1.946 NA NA NA BBX NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BBX NA NA NA ENSG00000114439 ENSE00003479990 missense_variant 3.39641 0.97313 0.80089 0.706298 0.9986638 0 0.9580978 TRUE 4.47293e-05 ENSE00002365239_023 ENSE00002365239 023 3 107463427 107463596 + 50 81 39 A C 107463581 2217 155 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTCACTAATGAGGAAATT 107744579 107744749 107744733 107744734 107744734 downstr_intron 24 1.631579 TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTCACTAATGAGGAAATT TAACACAGTAAATAGTACAAAAGAAAATATGATATCTTTCTTTGTTTCAGGTATCCTCTGGCACATGCAGGCCTGATGTTTCAGAATCTCCTGAATTACGTCAGAAGTCACCATTGTTTCAGTTTGCCGAGGTAATATATTACAATTGATACTTAACTAATGAGGAAATT mutant NA NA NA NA NA 2404 319 1 0.9935451 0.9967725 NA NA 0.9905669 0.9408023 NA NA 0.009433138 0.05274276 NA 0.9656846 NA 0.03108795 NA FALSE NA 0 0.243 . intron_variant MODIFIER BBX HGNC 14422 ENST00000416476 8/16 1 NA TAA A,C 8.237e-06 3:107744734 BBX HGNC Symbol protein_coding 288388 ENSG00000114439 ENSE00003479990 intron_variant 0.079741 0.17981 0.05935 0.065574 0.6966333 0.128427 0.9580978 TRUE 4.07133e-06 ENSE00002365480_000 ENSE00002365480 000 1 161188413 161188582 + 80 21 69 NA NA NA NA NA GCCTCCCTGGGTGGGGCAGATGCTGAGGGGCCCTGGAGAAAGTGTGGGTCTTTAATGTTTTGCTTCTTTTGTCTCTGCAGAAATCAGATGGTGTTTACACGGTAAGTGTGCCTACCTCCCCCACCCAGGAAGTCAGCAGAAGAGGGTGGGATTTTGAGCGATCTTTGGAA 161218622 161218792 NA NA NA NA NA NA GCCTCCCTGGGTGGGGCAGATGCTGAGGGGCCCTGGAGAAAGTGTGGGTCTTTAATGTTTTGCTTCTTTTGTCTCTGCAGAAATCAGATGGTGTTTACACGGTAAGTGTGCCTACCTCCCCCACCCAGGAAGTCAGCAGAAGAGGGTGGGATTTTGAGCGATCTTTGGAA GCCTCCCTGGGTGGGGCAGATGCTGAGGGGCCCTGGAGAAAGTGTGGGTCTTTAATGTTTTGCTTCTTTTGTCTCTGCAGAAATCAGATGGTGTTTACACGGTAAGTGTGCCTACCTCCCCCACCCAGGAAGTCAGCAGAAGAGGGTGGGATTTTGAGCGATCTTTGGAA natural 10 15 0.9509201 0.9872766 0.9690983 297 663 1 0.9957571 0.9978785 0.9509201 0.9872766 1 0.9957571 0 0 0 0 0.9690983 0.9978785 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003480932 NA NA NA NA NA NA NA NA NA NA ENSE00002365840_000 ENSE00002365840 000 2 178681523 178681692 - 33 93 44 NA NA NA NA NA ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT 177816795 177816965 NA NA NA NA NA NA ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT natural NA NA NA NA NA 1273 1001 0.9912699 0.8624523 0.9268611 NA NA 0.9912699 0.8624523 NA NA 0 0 NA 0.9268611 NA 0 NA FALSE NA NA NA NA NA NA PDE11A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE11A NA NA NA ENSG00000128655 ENSE00003814152 NA NA NA NA NA NA NA 4.16725e-31 FALSE NA ENSE00002365952_000 ENSE00002365952 000 X 38533433 38533602 + 42 96 32 NA NA NA NA NA TAGTTCACACCCTCATCTCCTCTGGAACTTACGCTGCGCTGCACATGGTCCACTGCCCGGCTCCTCTCATCATTGCCATTGTAAGTCTGCATAGCGTCCGTGTAAGTCCTCAGGAAGGTGTCCTTGATCTATGGAAGACAAGGAGGGATGTGATTGCAGTCCACCACAGC 38674178 38674348 NA NA NA NA NA NA GCTGTGGTGGACTGCAATCACATCCCTCCTTGTCTTCCATAGATCAAGGACACCTTCCTGAGGACTTACACGGACGCTATGCAGACTTACAATGGCAATGATGAGAGGAGCCGGGCAGTGGACCATGTGCAGCGCAGCGTAAGTTCCAGAGGAGATGAGGGTGTGAACTA GCTGTGGTGGACTGCAATCACATCCCTCCTTGTCTTCCATAGATCAAGGACACCTTCCTGAGGACTTACACGGACGCTATGCAGACTTACAATGGCAATGATGAGAGGAGCCGGGCAGTGGACCATGTGCAGCGCAGCGTAAGTTCCAGAGGAGATGAGGGTGTGAACTA natural 104 202 0.9830676 0.9785859 0.9808268 86 568 1 0.8390284 0.9195142 0.9830676 0.9785859 1 0.8390284 0 0 0 0 0.9808268 0.9195142 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003495853 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00002366075_000 ENSE00002366075 000 2 233752701 233752870 - 42 75 53 NA NA NA NA NA AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 NA NA NA NA NA NA GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT natural 2618 3483 0.8483232 0.8500016 0.8491624 2399 1573 0.8462715 0.8808456 0.8635585 0.8483232 0.8500016 0.8462715 0.8808456 0 0 0 0 0.8491624 0.8635585 0 0 0 FALSE FALSE NA NA NA NA NA NGEF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NGEF NA NA NA ENSG00000066248 ENSE00003483409 NA NA NA NA NA NA NA 0.9498255 TRUE NA ENSE00002366075_001 ENSE00002366075 001 2 233752701 233752870 - 42 75 53 T G 233752711 5364 160 AACAGTGCATGGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888000 232888001 232888001 downstr_intron 32 1.780488 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCCATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 142 867 0.9321435 0.9539864 0.9430649 0.8483232 0.8500016 0.8462715 0.8808456 NA NA 0.08587194 0.07314082 0.8491624 0.8635585 NA 0.07950638 NA FALSE NA 0 -2.652 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA TTG T,G 4.118e-05 2:232888001 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 intron_variant -0.181981 0.05748 0.01516 0.056701 0.5084268 0.0683433 0.9498255 TRUE 6.09573e-05 ENSE00002366075_002 ENSE00002366075 002 2 233752701 233752870 - 42 75 53 A G 233752717 5365 154 AACAGTGCATTGGGATGCAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888006 232888007 232888007 downstr_intron 26 1.634146 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGCATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 288 1141 0.8005594 0.875278 0.8379187 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.04571216 -0.0055676 0.8491624 0.8635585 NA -0.02563988 NA FALSE NA 0 -0.658 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA TAC A,G 8.236e-06 2:232888007 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 intron_variant 0.147883 0.17075 0.02941 0.056701 0.3096949 0.108949 0.9498255 TRUE 1.6251e-05 ENSE00002366075_003 ENSE00002366075 003 2 233752701 233752870 - 42 75 53 G A 233752729 5366 142 AACAGTGCATTGGGATACAGCACAAGAGAAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888018 232888019 232888019 downstr_intron 14 1.341463 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTTCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 388 379 0.8561531 0.8580027 0.8570779 0.8483232 0.8500016 0.8462715 0.8808456 NA NA 0.009881578 -0.02284291 0.8491624 0.8635585 NA -0.006480664 NA FALSE NA 0 -0.44 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA GGA G,A 5.765e-05 2:232888019 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 intron_variant -0.073457 0.15404 0.02297 0.056701 0.3988307 0.0961337 0.9498255 TRUE 4.8746e-05 ENSE00002366075_004 ENSE00002366075 004 2 233752701 233752870 - 42 75 53 A C 233752735 5367 136 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGCGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888024 232888025 232888025 downstr_intron 8 1.195122 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCGCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 1188 207 0.8613809 0.8797351 0.870558 0.8483232 0.8500016 0.8462715 0.8808456 NA NA 0.01510938 -0.00111045 0.8491624 0.8635585 NA 0.006999464 NA FALSE NA 0 -0.987 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA GAG A,C 8.236e-06 2:232888025 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 splice_region_variant 0.286142 0.2202 0.00772 0.056701 0.7761213 0.163872 0.9498255 TRUE 4.0621e-06 ENSE00002366075_005 ENSE00002366075 005 2 233752701 233752870 - 42 75 53 C T 233752740 5368 131 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTTACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888029 232888030 232888030 downstr_intron 3 1.073171 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTAAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 282 48 1 1 1 0.8483232 0.8500016 0.8462715 0.8808456 NA NA 0.1537285 0.1191544 0.8491624 0.8635585 NA 0.1364415 NA FALSE NA 1 2.385 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA TCA C,T 8.236e-06 2:232888030 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 splice_region_variant 1.963497 0.97835 0.71712 0.055982 0.9387755 0.976498 0.9498255 TRUE NA ENSE00002366075_007 ENSE00002366075 007 2 233752701 233752870 - 42 75 53 T A 233752746 5370 125 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATATCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888035 232888036 232888036 exon -4 0.96 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGATATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 194 1181 0.7044679 0.6050464 0.6547571 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.1418037 -0.2757992 0.8491624 0.8635585 NA -0.2088014 NA FALSE NA 0.011 -1.145 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA TTT T,A 1.647e-05 2:232888036 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 missense_variant 3.93329 0.48924 0.1239 0.695654 0.9957613 0 0.9498255 TRUE 8.12394e-06 ENSE00002366075_008 ENSE00002366075 008 2 233752701 233752870 - 42 75 53 C T 233752749 5371 122 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCTAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888038 232888039 232888039 exon -7 0.92 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTAGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 185 394 0.9845823 0.9692297 0.976906 0.8483232 0.8500016 0.8462715 0.8808456 NA NA 0.1383108 0.0883841 0.8491624 0.8635585 NA 0.1133474 NA FALSE NA 1 2.17 rs142300382 downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 rs142300382 1 NA T:0 T:0.0001 CCA C,T 4.118e-05 2:232888039 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 synonymous_variant 1.276158 0.97204 0.86016 0.695654 0.7594428 0 0.9498255 TRUE 5.68685e-05 ENSE00002366075_009 ENSE00002366075 009 2 233752701 233752870 - 42 75 53 T C 233752765 5372 106 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCACCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888054 232888055 232888055 exon -23 0.7066667 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGGTGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 392 529 0.6182278 0.8004779 0.7093529 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.2280437 -0.0803677 0.8491624 0.8635585 NA -0.1542057 NA FALSE NA 1 3.463 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA ATC T,C 8.236e-06 2:232888055 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 missense_variant 2.786941 0.6593 0.87133 0.695654 0.9854391 0 0.9498255 TRUE NA ENSE00002366075_010 ENSE00002366075 010 2 233752701 233752870 - 42 75 53 G A 233752776 5373 95 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTACACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888065 232888066 232888066 exon -34 0.56 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGTACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 348 1843 0.6684054 0.7262894 0.6973474 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.1778661 -0.1545562 0.8491624 0.8635585 NA -0.1662111 NA FALSE NA 0.514 0.729 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA TGC G,A 8.236e-06 2:232888066 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 synonymous_variant 0.560472 0.68333 0.40713 0.695654 0.6321591 0 0.9498255 TRUE 4.06623e-06 ENSE00002366075_011 ENSE00002366075 011 2 233752701 233752870 - 42 75 53 C A 233752783 5374 88 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCAGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888072 232888073 232888073 exon 35 0.4666667 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCTGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 190 134 0.95 0.8612978 0.9056489 0.8483232 0.8500016 0.8462715 0.8808456 NA NA 0.1037285 -0.01954778 0.8491624 0.8635585 NA 0.04209035 NA FALSE NA 0.363 1.138 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:232888073 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 missense_variant 5.516907 0.88548 0.46329 0.646311 0.9963621 0 0.9498255 TRUE 2.85966e-05 ENSE00002366075_012 ENSE00002366075 012 2 233752701 233752870 - 42 75 53 C T 233752783 5375 88 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCTGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888072 232888073 232888073 exon 35 0.4666667 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCAGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 969 166 0.7854127 0.80087 0.7931413 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.06085882 -0.07997562 0.8491624 0.8635585 NA -0.07041722 NA FALSE NA 0.363 1.138 NA NA NA NGEF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NGEF NA NA NA ENSG00000066248 ENSE00003483409 missense_variant 5.569868 0.87209 0.21283 0.646311 0.9993433 0 0.9498255 TRUE 4.08523e-05 ENSE00002366075_013 ENSE00002366075 013 2 233752701 233752870 - 42 75 53 G A 233752784 5376 87 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCACTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888073 232888074 232888074 exon 34 0.4533333 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGTGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 101 1066 0.7807901 0.8018971 0.7913436 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.06548138 -0.07894847 0.8491624 0.8635585 NA -0.07221492 NA FALSE NA 0.511 2.355 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA CGC G,A 2.471e-05 2:232888074 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 missense_variant 7.12174 0.91041 0.575 0.646311 0.9991706 0 0.9498255 TRUE 2.45431e-05 ENSE00002366075_014 ENSE00002366075 014 2 233752701 233752870 - 42 75 53 C T 233752787 5377 84 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTTAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888076 232888077 232888077 exon 31 0.4133333 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTAAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 189 2504 0.7888036 0.7756688 0.7822362 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.05746796 -0.1051768 0.8491624 0.8635585 NA -0.08132236 NA FALSE NA 0.955 3.176 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA TCA C,T 2.471e-05 2:232888077 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 missense_variant 4.833528 0.98043 0.80912 0.646311 0.9966956 0 0.9498255 TRUE 3.27469e-05 ENSE00002366075_015 ENSE00002366075 015 2 233752701 233752870 - 42 75 53 G A 233752789 5378 82 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAAACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888078 232888079 232888079 exon 29 0.3866667 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTTTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 632 331 0.8080567 0.8821621 0.8451094 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.03821483 0.00131648 0.8491624 0.8635585 NA -0.01844918 NA FALSE NA 1 8.668 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA AGA G,A 8.236e-06 2:232888079 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 missense_variant 6.453191 0.99295 0.98969 0.646311 0.9984353 0 0.9498255 TRUE 8.20304e-06 ENSE00002366075_017 ENSE00002366075 017 2 233752701 233752870 - 42 75 53 T C 233752800 5380 71 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCCACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888089 232888090 232888090 exon 18 0.24 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTGGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 197 138 0.8542422 0.9608333 0.9075378 0.8483232 0.8500016 0.8462715 0.8808456 NA NA 0.007970729 0.07998776 0.8491624 0.8635585 NA 0.04397925 NA FALSE NA 0.819 0.113 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA CTA T,C 8.236e-06 2:232888090 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 synonymous_variant 0.209334 0.96069 0.25094 0.646311 0.7327146 0 0.9498255 TRUE NA ENSE00002366075_019 ENSE00002366075 019 2 233752701 233752870 - 42 75 53 A T 233752830 5382 41 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGTAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888119 232888120 232888120 upstr_intron -13 -0.2264151 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTACTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 1154 404 0 0.071782 0.035891 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.8462715 -0.8090636 0.8491624 0.8635585 NA -0.8276675 NA TRUE NA 0.008 1.661 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 rs531296515 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GAA A,T 8.237e-06 2:232888120 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 intron_variant -0.144945 0.43829 0.59299 0.055872 0.6703182 0.651778 0.9498255 TRUE 4.7547e-06 ENSE00002366075_020 ENSE00002366075 020 2 233752701 233752870 - 42 75 53 T G 233752836 5383 35 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCGGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888125 232888126 232888126 upstr_intron -19 -0.3396226 GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCCGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 3368 1198 0.9480153 0.9475121 0.9477637 0.8483232 0.8500016 0.8462715 0.8808456 NA NA 0.1017438 0.06666651 0.8491624 0.8635585 NA 0.08420516 NA FALSE NA 0 -2.311 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 rs548009683 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 CTG T,G 0.000659 2:232888126 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 intron_variant -0.034239 0.1 0.09941 0.055872 0.4238377 0.0565037 0.9498255 TRUE 0.000619573 ENSE00002366075_021 ENSE00002366075 021 2 233752701 233752870 - 42 75 53 G A 233752839 5384 32 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCATTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888128 232888129 232888129 upstr_intron -22 -0.3962264 GGGAGGAAAGACCAGAAAAGATTAAAGTTAATGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 1000 753 0.8179852 0.8003358 0.8091605 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.02828631 -0.08050981 0.8491624 0.8635585 NA -0.05439806 NA FALSE NA 0 -1.267 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA CGT G,A 8.237e-06 2:232888129 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 intron_variant -0.066873 0.1178 0.05056 0.070351 0.5701487 0.0565037 0.9498255 TRUE 4.89333e-06 ENSE00002366075_022 ENSE00002366075 022 2 233752701 233752870 - 42 75 53 C G 233752851 5385 20 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATGTTTTCTGGTCTTTCCTCCC 232887990 232888160 232888140 232888141 232888141 upstr_intron -34 -0.6226415 GGGAGGAAAGACCAGAAAACATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 610 389 0.8460228 0.8333721 0.8396974 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.0002486822 -0.04747351 0.8491624 0.8635585 NA -0.0238611 NA FALSE NA 0 0 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA TCT C,G 8.245e-06 2:232888141 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 intron_variant -0.169608 0.17721 0.19944 0.070351 0.4989375 0.0730244 0.9498255 TRUE 5.1187e-06 ENSE00002366075_023 ENSE00002366075 023 2 233752701 233752870 - 42 75 53 G A 233752859 5386 12 AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCACCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTCTATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGATCTTTCCTCCC 232887990 232888160 232888148 232888149 232888149 upstr_intron -42 -0.7735849 GGGAGGAAAGATCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT mutant NA NA NA NA NA 1101 137 0.8046171 0.8 0.8023085 0.8483232 0.8500016 0.8462715 0.8808456 NA NA -0.04165444 -0.08084558 0.8491624 0.8635585 NA -0.06125001 NA FALSE NA 0 -1.829 . downstream_gene_variant MODIFIER NGEF HGNC 7807 ENST00000420650 1 NA GGT G,A 8.248e-06 2:232888149 NGEF HGNC Symbol protein_coding 134586 ENSG00000066248 ENSE00003483409 intron_variant -0.138128 0.10474 0.046 0.070351 0.5713202 0.0702457 0.9498255 TRUE 5.22231e-06 ENSE00002366075_BRK ENSE00002366075 BRK 2 233752701 233752870 - 42 75 53 A,G; T,T NA NA NA AACAGTGCATTGGGATACAGCACAAGAGGAGGTGAGACTCGGCATTTCCAGCTCCTTGTGAGCATCCAAAGCAGTGCACTCCCGCTCAGACCTCTCTTCTACCCTCTTCAGGATGTTAAATGCACAGAGAAAGGCTGCGTTAACTTTAATCTTTTCTGGTCTTTCCTCCC 232887990 232888160 NA NA NA NA NA NA GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATTTAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGCCGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT GGGAGGAAAGACCAGAAAAGATTAAAGTTAACGCAGCCTTTCTCTGTGCATAGAACATCCTGAAGAGGGTAGAAGAGAGGTCTGAGCGGGAGTGCACTGCTTTGGATGCTCACAAGGAGCTGGAAATGGTGAGTCTCACCTCCTCTTGTGCTGTATCCCAATGCACTGTT control 42 81 0 0 0 750 279 0.001202177 0 0.0006010883 0.8483232 0.8500016 0.8462715 0.8808456 -0.8483232 -0.8500016 -0.8450693 -0.8808456 0.8491624 0.8635585 -0.8491624 -0.8629575 0.01379502 TRUE TRUE NA NA NA NA NA NGEF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NGEF NA NA NA ENSG00000066248 ENSE00003483409 NA NA NA NA NA NA NA 0.9498255 TRUE NA ENSE00002366116_000 ENSE00002366116 000 12 112308847 112309016 + 42 96 32 NA NA NA NA NA TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 NA NA NA NA NA NA TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG natural 54 18 0.9930232 0.9945226 0.9937729 1691 1527 0.9880761 0.7956075 0.8918418 0.9930232 0.9945226 0.9880761 0.7956075 0 0 0 0 0.9937729 0.8918418 0 0 0 FALSE FALSE NA NA NA NA NA MAPKAPK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAPKAPK5 NA NA NA ENSG00000089022 ENSE00003327014 NA NA NA NA NA NA NA 0.0234226 FALSE NA ENSE00002366116_001 ENSE00002366116 001 12 112308847 112309016 + 42 96 32 T C 112308864 3270 18 TGAGCACTCTGGAGCAGCGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871059 111871060 111871060 upstr_intron -25 -0.5714286 TGAGCACTCTGGAGCAGCGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant 50 22 0 0 0 351 148 1 1 1 0.9930232 0.9945226 0.9880761 0.7956075 -0.9930232 -0.9945226 0.01192392 0.2043925 0.9937729 0.8918418 -0.9937729 0.1081582 1.101931 FALSE TRUE 0.027 2.107 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 1 NA GTG T,C 8.276e-06 12:111871060 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 intron_variant 0.924011 0.31717 0.17382 0.295142 0.8293796 0.124385 0.0234226 FALSE 4.11164e-06 ENSE00002366116_002 ENSE00002366116 002 12 112308847 112309016 + 42 96 32 T A 112308880 3271 34 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTAAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871075 111871076 111871076 upstr_intron -9 -0.1904762 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTAAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant 13 11 0.9976072 0.9959021 0.9967547 NA NA NA NA NA 0.9930232 0.9945226 0.9880761 0.7956075 0.004583981 0.001379535 NA NA 0.9937729 0.8918418 0.002981758 NA NA NA FALSE 0 -1.393 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 rs536269478 1 NA TTA T,A 8.276e-06 12:111871076 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 intron_variant -0.042447 0.19267 0.04332 0.295142 0.452064 0.124385 0.0234226 FALSE NA ENSE00002366116_003 ENSE00002366116 003 12 112308847 112309016 + 42 96 32 T C 112308891 3272 45 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGACGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871086 111871087 111871087 exon 3 0.03125 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGACGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant NA NA NA NA NA 72 93 1 1 1 0.9930232 0.9945226 0.9880761 0.7956075 NA NA 0.01192392 0.2043925 0.9937729 0.8918418 NA 0.1081582 NA FALSE NA 1 1.774 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 rs376647661 1 NA C:0 C:0.0001 ATG T,C 5.793e-05 12:111871087 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 splice_region_variant 1.464017 0.98458 0.93134 0.722319 0.9148155 0 0.0234226 FALSE 9.80296e-05 ENSE00002366116_004 ENSE00002366116 004 12 112308847 112309016 + 42 96 32 G T 112308898 3273 52 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCATTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871093 111871094 111871094 exon 10 0.1041667 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCATTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant NA NA NA NA NA 604 449 0.9966208 0.9997453 0.998183 0.9930232 0.9945226 0.9880761 0.7956075 NA NA 0.0085447 0.2041378 0.9937729 0.8918418 NA 0.1063413 NA FALSE NA 1 7.847 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 1 NA AGT G,T 8.275e-06 12:111871094 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 missense_variant 2.034491 0.99156 0.98818 0.722319 0.7051951 0 0.0234226 FALSE 4.06971e-06 ENSE00002366116_005 ENSE00002366116 005 12 112308847 112309016 + 42 96 32 G C 112308906 3274 60 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTCTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871101 111871102 111871102 exon 18 0.1875 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTCTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant NA NA NA NA NA 362 459 1 0.9906299 0.9953149 0.9930232 0.9945226 0.9880761 0.7956075 NA NA 0.01192392 0.1950224 0.9937729 0.8918418 NA 0.1034732 NA FALSE NA 1 1.954 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 rs371243208 1 NA A:0 A:0.0001 TGT G,C 1.655e-05 12:111871102 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 missense_variant 5.284874 0.97777 0.95388 0.722319 0.9985033 0 0.0234226 FALSE 1.22021e-05 ENSE00002366116_006 ENSE00002366116 006 12 112308847 112309016 + 42 96 32 T A 112308947 3275 101 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGAAGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871142 111871143 111871143 exon -38 0.6145833 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGAAGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant NA NA NA NA NA 487 46 1 0.9965462 0.9982731 0.9930232 0.9945226 0.9880761 0.7956075 NA NA 0.01192392 0.2009387 0.9937729 0.8918418 NA 0.1064313 NA FALSE NA 1 6.257 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 1 NA ATG T,A 8.272e-06 12:111871143 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 missense_variant 2.163866 0.99334 0.98574 0.722319 0.9457657 0 0.0234226 FALSE 4.06256e-06 ENSE00002366116_007 ENSE00002366116 007 12 112308847 112309016 + 42 96 32 T C 112308969 3276 123 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTACTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871164 111871165 111871165 exon -16 0.84375 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTACTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant NA NA NA NA NA 974 486 0.9981717 0.9993486 0.9987602 0.9930232 0.9945226 0.9880761 0.7956075 NA NA 0.01009563 0.2037411 0.9937729 0.8918418 NA 0.1069184 NA FALSE NA 0.856 -0.006 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 rs373894565 1 NA C:0 C:0.0001 ATT T,C 8.271e-06 12:111871165 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 synonymous_variant -0.252646 0.97395 0.69676 0.722319 0.4406759 0 0.0234226 FALSE 4.06521e-06 ENSE00002366116_008 ENSE00002366116 008 12 112308847 112309016 + 42 96 32 T C 112308972 3277 126 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTACGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871167 111871168 111871168 exon -13 0.875 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTACGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant NA NA NA NA NA 27 64 1 0.9994031 0.9997016 0.9930232 0.9945226 0.9880761 0.7956075 NA NA 0.01192392 0.2037957 0.9937729 0.8918418 NA 0.1078598 NA FALSE NA 0.99 0.226 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 1 NA ATG T,C 8.271e-06 12:111871168 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 synonymous_variant -0.208591 0.97367 0.80156 0.722319 0.4189938 0 0.0234226 FALSE 4.06762e-06 ENSE00002366116_009 ENSE00002366116 009 12 112308847 112309016 + 42 96 32 T C 112308992 3278 146 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCACGTGCGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871187 111871188 111871188 downstr_intron 8 1.258065 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCACGTGCGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant NA NA NA NA NA 361 333 1 0.9997711 0.9998856 0.9930232 0.9945226 0.9880761 0.7956075 NA NA 0.01192392 0.2041636 0.9937729 0.8918418 NA 0.1080438 NA FALSE NA 0 -0.855 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 1 NA ATG T,C 8.27e-06 12:111871188 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 splice_region_variant 0.455545 0.23742 0.09347 0.099367 0.4919913 0.121998 0.0234226 FALSE 4.09189e-06 ENSE00002366116_010 ENSE00002366116 010 12 112308847 112309016 + 42 96 32 C T 112308996 3279 150 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGTGGTTTCTGTCCTAAGATCTG 111871042 111871212 111871191 111871192 111871192 downstr_intron 12 1.387097 TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGTGGTTTCTGTCCTAAGATCTG TGAGCACTCTGGAGCAGTGACTCCTTTTTTTTTTAATTTCAGGATGCCCCAGTGAAGTTGTGTGACTTTGGATTTGCCAAGATTGACCAAGGTGACTTGATGACACCCCAGTTCACCCCTTATTATGTAGCACCCCAGGTAAGCATGTGCGGTTTCTGTCCTAAGATCTG mutant NA NA NA NA NA 163 418 1 0.999635 0.9998175 0.9930232 0.9945226 0.9880761 0.7956075 NA NA 0.01192392 0.2040275 0.9937729 0.8918418 NA 0.1079757 NA FALSE NA 0 0.746 . downstream_gene_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000546394 1 NA GCG C,T 0.0002316 12:111871192 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003327014 intron_variant 0.463708 0.46057 0.21998 0.099367 0.4764508 0.875425 0.0234226 FALSE 0.000172082 ENSE00002366494_000 ENSE00002366494 000 10 116070078 116070247 - 35 90 45 NA NA NA NA NA AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 NA NA NA NA NA NA GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT natural 30 46 0.9829275 0.9439366 0.9634321 739 1100 0.9841196 0.8726878 0.9284037 0.9829275 0.9439366 0.9841196 0.8726878 0 0 0 0 0.9634321 0.9284037 0 0 0 FALSE FALSE NA NA NA NA NA AFAP1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFAP1L2 NA NA NA ENSG00000169129 ENSE00003789845 NA NA NA NA NA NA NA 0.4469727 FALSE NA ENSE00002366494_001 ENSE00002366494 001 10 116070078 116070247 - 35 90 45 C T 116070089 2641 159 AGGGGACTCTCTCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310329 114310330 114310330 downstr_intron 24 1.705882 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGAGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant 16 10 0.9939501 0.9927816 0.9933658 NA NA NA NA NA 0.9829275 0.9439366 0.9841196 0.8726878 0.01102257 0.04884501 NA NA 0.9634321 0.9284037 0.02993379 NA NA NA FALSE 0 0.139 . downstream_gene_variant MODIFIER AFAP1L2 HGNC 25901 ENST00000419268 1 NA CCC C,T 8.236e-06 10:114310330 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 intron_variant 0.282508 0.17169 0.04913 0.078448 0.6514863 0.109489 0.4469727 FALSE 4.42842e-06 ENSE00002366494_002 ENSE00002366494 002 10 116070078 116070247 - 35 90 45 A G 116070121 2642 127 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCGGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310361 114310362 114310362 exon -9 0.9111111 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACCGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 40 807 1 0.9968255 0.9984128 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.01588038 0.1241377 0.9634321 0.9284037 NA 0.07000905 NA FALSE NA 0.983 2.554 . missense_variant MODERATE AFAP1L2 HGNC 25901 ENST00000419268 9/9 1 deleterious(0) possibly_damaging(0.642) NA CAG A,G 8.236e-06 10:114310362 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant 1.000316 0.88815 0.81649 0.615465 0.9424832 0 0.4469727 FALSE 4.07717e-06 ENSE00002366494_003 ENSE00002366494 003 10 116070078 116070247 - 35 90 45 A T 116070126 2643 122 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTATAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310366 114310367 114310367 exon -14 0.8555556 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTATAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 836 943 0.9927989 0.9920775 0.9924382 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.0086793 0.1193897 0.9634321 0.9284037 NA 0.06403449 NA FALSE NA 0.07 0.472 . missense_variant MODERATE AFAP1L2 HGNC 25901 ENST00000419268 9/9 1 deleterious(0.01) benign(0.095) NA AAA A,T 8.236e-06 10:114310367 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant -0.073397 0.24834 0.08523 0.615465 0.8796692 0 0.4469727 FALSE 8.14372e-06 ENSE00002366494_008 ENSE00002366494 008 10 116070078 116070247 - 35 90 45 G A 116070141 2648 107 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCAGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310381 114310382 114310382 exon -29 0.6888889 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCTGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 11 352 0.8 0.9872741 0.8936371 0.9829275 0.9439366 0.9841196 0.8726878 NA NA -0.1841196 0.1145863 0.9634321 0.9284037 NA -0.03476667 NA FALSE NA 1 4.593 rs144882812 missense_variant MODERATE AFAP1L2 HGNC 25901 ENST00000419268 9/9 rs144882812 1 deleterious(0) possibly_damaging(0.796) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0007 CGG G,A 0.0005518 10:114310382 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant 3.74471 0.98684 0.94347 0.615465 0.997969 0 0.4469727 FALSE 0.000658574 ENSE00002366494_009 ENSE00002366494 009 10 116070078 116070247 - 35 90 45 G C 116070152 2649 96 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGCTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310392 114310393 114310393 exon -40 0.5666667 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAAGCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant 72 98 0.8423494 0.85 0.8461747 412 186 0.943881 0.9360071 0.9399441 0.9829275 0.9439366 0.9841196 0.8726878 -0.1405781 -0.09393662 -0.04023863 0.0633193 0.9634321 0.9284037 -0.1172573 0.01154034 0.1287977 FALSE FALSE 1 1.082 . missense_variant MODERATE AFAP1L2 HGNC 25901 ENST00000419268 9/9 1 deleterious(0.01) possibly_damaging(0.782) NA GGT G,C 8.236e-06 10:114310393 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant 0.598842 0.97203 0.89201 0.615465 0.9885121 0 0.4469727 FALSE 4.06339e-06 ENSE00002366494_011 ENSE00002366494 011 10 116070078 116070247 - 35 90 45 A G 116070163 2651 85 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGGTGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310403 114310404 114310404 exon 40 0.4444444 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCACCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 164 108 0.9906013 1 0.9953007 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.006481698 0.1273122 0.9634321 0.9284037 NA 0.06689694 NA FALSE NA 0 0.06 . missense_variant MODERATE AFAP1L2 HGNC 25901 ENST00000419268 9/9 1 tolerated(0.06) benign(0.013) NA GAT A,G 8.236e-06 10:114310404 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant -0.489348 0.19002 0.05247 0.615465 0.9754848 0 0.4469727 FALSE 8.12671e-06 ENSE00002366494_012 ENSE00002366494 012 10 116070078 116070247 - 35 90 45 T A 116070170 2652 78 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCATCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310410 114310411 114310411 exon 33 0.3666667 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGATGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant 17 16 0.85 0.85 0.85 33 155 0.9286194 0.9578596 0.9432395 0.9829275 0.9439366 0.9841196 0.8726878 -0.1329275 -0.09393662 -0.0555002 0.08517178 0.9634321 0.9284037 -0.1134321 0.01483579 0.1282678 FALSE FALSE 0.976 0.01 . missense_variant MODERATE AFAP1L2 HGNC 25901 ENST00000419268 9/9 1 tolerated(0.22) benign(0.045) NA CTT T,A 8.236e-06 10:114310411 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant -0.270817 0.95385 0.67604 0.615465 0.9794971 0 0.4469727 FALSE 4.06382e-06 ENSE00002366494_016 ENSE00002366494 016 10 116070078 116070247 - 35 90 45 C G 116070184 2656 64 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCGGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310424 114310425 114310425 exon 19 0.2111111 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCCGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 44 246 0.9912662 1 0.9956331 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.00714658 0.1273122 0.9634321 0.9284037 NA 0.06722938 NA FALSE NA 0.585 0.941 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:114310425 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant 6.587522 0.98798 0.7876 0.615465 0.998789 0 0.4469727 FALSE 4.06699e-06 ENSE00002366494_017 ENSE00002366494 017 10 116070078 116070247 - 35 90 45 C T 116070184 2657 64 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCTGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310424 114310425 114310425 exon 19 0.2111111 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCAGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 38 206 0.9959425 1 0.9979712 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.01182285 0.1273122 0.9634321 0.9284037 NA 0.06956751 NA FALSE NA 0.585 0.941 NA NA NA AFAP1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFAP1L2 NA NA NA ENSG00000169129 ENSE00003789845 missense_variant 3.539888 0.98737 0.66979 0.615465 0.9970058 0 0.4469727 FALSE 1.2201e-05 ENSE00002366494_018 ENSE00002366494 018 10 116070078 116070247 - 35 90 45 G A 116070185 2658 63 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCACTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310425 114310426 114310426 exon 18 0.2 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGTGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 428 986 0.9080248 0.9473689 0.9276969 0.9829275 0.9439366 0.9841196 0.8726878 NA NA -0.07609484 0.07468109 0.9634321 0.9284037 NA -0.0007068727 NA FALSE NA 0 -3.089 . synonymous_variant LOW AFAP1L2 HGNC 25901 ENST00000419268 9/9 1 NA CGC G,A 4.118e-05 10:114310426 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 synonymous_variant 0.828156 0.57396 0.01971 0.615465 0.5696655 0 0.4469727 FALSE 6.10516e-05 ENSE00002366494_019 ENSE00002366494 019 10 116070078 116070247 - 35 90 45 A G 116070189 2659 59 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCGCTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310429 114310430 114310430 exon 14 0.1555556 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGCGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant 18 16 0.981522 0.9920222 0.9867721 NA NA NA NA NA 0.9829275 0.9439366 0.9841196 0.8726878 -0.001405507 0.04808562 NA NA 0.9634321 0.9284037 0.02334006 NA NA NA FALSE 1 4.193 . missense_variant MODERATE AFAP1L2 HGNC 25901 ENST00000419268 9/9 rs372184246 1 tolerated(0.19) possibly_damaging(0.508) NA G:0 G:0.0001 CAC A,G 8.236e-06 10:114310430 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant 3.866127 0.97589 0.75733 0.615465 0.9974297 0 0.4469727 FALSE 4.0705e-06 ENSE00002366494_020 ENSE00002366494 020 10 116070078 116070247 - 35 90 45 T C 116070195 2660 53 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCCGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310435 114310436 114310436 exon 8 0.08888889 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCGGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant 48 10 0.7907102 0.85 0.8203551 109 102 0.9701833 0.9961795 0.9831814 0.9829275 0.9439366 0.9841196 0.8726878 -0.1922173 -0.09393662 -0.01393633 0.1234917 0.9634321 0.9284037 -0.1430769 0.05477767 0.1978546 FALSE FALSE 1 5.151 . missense_variant MODERATE AFAP1L2 HGNC 25901 ENST00000419268 9/9 1 tolerated(0.56) probably_damaging(0.998) NA CTG T,C 8.236e-06 10:114310436 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 missense_variant 4.020332 0.98513 0.94932 0.615465 0.9942554 0 0.4469727 FALSE 4.07345e-06 ENSE00002366494_021 ENSE00002366494 021 10 116070078 116070247 - 35 90 45 G A 116070205 2661 43 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTAAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310445 114310446 114310446 upstr_intron -3 -0.04444444 GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTTAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 462 21 1 0.95 0.975 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.01588038 0.07731218 0.9634321 0.9284037 NA 0.04659628 NA FALSE NA 0.999 2.843 . splice_region_variant&intron_variant LOW AFAP1L2 HGNC 25901 ENST00000419268 8/8 1 NA TGA G,A 8.236e-06 10:114310446 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 splice_region_variant 1.767516 0.96125 0.87685 0.078448 0.7680204 0.864652 0.4469727 FALSE NA ENSE00002366494_022 ENSE00002366494 022 10 116070078 116070247 - 35 90 45 C A 116070220 2662 28 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGACGTCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310460 114310461 114310461 upstr_intron -18 -0.3777778 GCCAGAGGACCTCAGCCTCTGCTGACGTCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 115 2264 1 0.9992739 0.9996369 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.01588038 0.1265861 0.9634321 0.9284037 NA 0.07123323 NA FALSE NA 0 -0.492 NA NA NA AFAP1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:114310461 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 intron_variant -0.112032 0.17909 0.01307 0.06567 0.3368296 0.0469449 0.4469727 FALSE 1.24323e-05 ENSE00002366494_025 ENSE00002366494 025 10 116070078 116070247 - 35 90 45 G A 116070222 2665 26 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCATCAGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310462 114310463 114310463 upstr_intron -20 -0.4222222 GCCAGAGGACCTCAGCCTCTGCTGATGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant 11 15 0.85 0.85 0.85 NA NA NA NA NA 0.9829275 0.9439366 0.9841196 0.8726878 -0.1329275 -0.09393662 NA NA 0.9634321 0.9284037 -0.1134321 NA NA NA FALSE 0 -1.394 . intron_variant MODIFIER AFAP1L2 HGNC 25901 ENST00000419268 8/8 rs201165278 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 2.471e-05 10:114310463 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 intron_variant -0.52365 0.11723 0.00572 0.06567 0.3014395 0.0469449 0.4469727 FALSE 2.07779e-05 ENSE00002366494_026 ENSE00002366494 026 10 116070078 116070247 - 35 90 45 A G 116070225 2666 23 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCGGCAGAGGCTGAGGTCCTCTGGC 114310318 114310488 114310465 114310466 114310466 upstr_intron -23 -0.4888889 GCCAGAGGACCTCAGCCTCTGCCGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 154 43 1 1 1 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.01588038 0.1273122 0.9634321 0.9284037 NA 0.07159628 NA FALSE NA 0 0.835 . intron_variant MODIFIER AFAP1L2 HGNC 25901 ENST00000419268 8/8 1 NA CAG A,G 8.237e-06 10:114310466 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 intron_variant 0.217683 0.20819 0.09631 0.06567 0.3020149 0.0469449 0.4469727 FALSE 4.15946e-06 ENSE00002366494_027 ENSE00002366494 027 10 116070078 116070247 - 35 90 45 G A 116070229 2667 19 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAAAGGCTGAGGTCCTCTGGC 114310318 114310488 114310469 114310470 114310470 upstr_intron -27 -0.5777778 GCCAGAGGACCTCAGCCTTTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 596 47 0.8 0.8719738 0.8359869 0.9829275 0.9439366 0.9841196 0.8726878 NA NA -0.1841196 -0.0007140556 0.9634321 0.9284037 NA -0.09241684 NA FALSE NA 0 -0.008 . intron_variant MODIFIER AFAP1L2 HGNC 25901 ENST00000419268 8/8 rs548622435 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGA G,A 3.295e-05 10:114310470 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 intron_variant 0.176605 0.18311 0.05738 0.06567 0.6141291 0.0469449 0.4469727 FALSE 2.50989e-05 ENSE00002366494_028 ENSE00002366494 028 10 116070078 116070247 - 35 90 45 G A 116070237 2668 11 AGGGGACTCTCCCTCCAGGCAGGGCAGAGGCTTACTTTCTGGCAGTTAAAGCGCTGGGCATCCGGGGTGTACTGGTTTCCTTCAGATGCTCCTTCGGAAGGCAGGCCGCTCACTTCCTGGATGACCTGAGGCAAGAGGGAAGCCGTCAGCAGAGGCTGAAGTCCTCTGGC 114310318 114310488 114310477 114310478 114310478 upstr_intron -35 -0.7555556 GCCAGAGGACTTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT GCCAGAGGACCTCAGCCTCTGCTGACGGCTTCCCTCTTGCCTCAGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGAAACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAAGTAAGCCTCTGCCCTGCCTGGAGGGAGAGTCCCCT mutant NA NA NA NA NA 283 2098 1 0.9995452 0.9997726 0.9829275 0.9439366 0.9841196 0.8726878 NA NA 0.01588038 0.1268574 0.9634321 0.9284037 NA 0.07136889 NA FALSE NA 0.003 2.516 . intron_variant MODIFIER AFAP1L2 HGNC 25901 ENST00000419268 8/8 rs567032671 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 AGG G,A 1.647e-05 10:114310478 AFAP1L2 HGNC Symbol protein_coding 109932 ENSG00000169129 ENSE00003789845 intron_variant 0.119137 0.18277 0.17753 0.06567 0.6887195 0.0469449 0.4469727 FALSE 2.9727e-05 ENSE00002366740_000 ENSE00002366740 000 3 131415344 131415513 - 42 75 53 NA NA NA NA NA TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 NA NA NA NA NA NA TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG natural NA NA NA NA NA 1525 2609 0.90788 0.7553504 0.8316152 NA NA 0.90788 0.7553504 NA NA 0 0 NA 0.8316152 NA 0 NA FALSE NA NA NA NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003787748 NA NA NA NA NA NA NA 0.7751393 FALSE NA ENSE00002366740_005 ENSE00002366740 005 3 131415344 131415513 - 42 75 53 C T 131415378 3007 136 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCATTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696533 131696534 131696534 downstr_intron 8 1.195122 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCATTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 770 382 0.9965993 0.9898151 0.9932072 NA NA 0.90788 0.7553504 NA NA 0.08871932 0.2344647 NA 0.8316152 NA 0.161592 NA FALSE NA 0.266 1.563 . splice_region_variant&intron_variant LOW CPNE4 HGNC 2317 ENST00000502818 6/16 1 NA ACG C,T 5.766e-05 3:131696534 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 splice_region_variant 1.814459 0.65307 0.50795 0.078448 0.7584086 0.250641 0.7751393 FALSE 4.47194e-05 ENSE00002366740_006 ENSE00002366740 006 3 131415344 131415513 - 42 75 53 C T 131415380 3008 134 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAACGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696535 131696536 131696536 downstr_intron 6 1.146341 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAACGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 827 327 0.9987995 0.9879695 0.9933845 NA NA 0.90788 0.7553504 NA NA 0.09091958 0.2326191 NA 0.8316152 NA 0.1617693 NA FALSE NA 0.301 0.204 . splice_region_variant&intron_variant LOW CPNE4 HGNC 2317 ENST00000502818 6/16 rs201108420 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0005 GCT C,T 6.589e-05 3:131696536 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 splice_region_variant 1.56089 0.57384 0.21767 0.078448 0.712318 0.250641 0.7751393 FALSE 8.53506e-05 ENSE00002366740_008 ENSE00002366740 008 3 131415344 131415513 - 42 75 53 C T 131415402 3010 112 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACAGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696557 131696558 131696558 exon -17 0.7866667 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACAGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 714 179 1 1 1 NA NA 0.90788 0.7553504 NA NA 0.09212004 0.2446496 NA 0.8316152 NA 0.1683848 NA FALSE NA 1 4.09 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 6/17 COSM1727941&COSM1727942 1 tolerated(0.23) benign(0.308) NA CCG C,T 3.295e-05 3:131696558 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 missense_variant 4.390215 0.98449 0.91135 0.638212 0.9967053 0 0.7751393 FALSE 1.21906e-05 ENSE00002366740_009 ENSE00002366740 009 3 131415344 131415513 - 42 75 53 G A 131415403 3011 111 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCATGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696558 131696559 131696559 exon -18 0.7733333 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCATGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 57 23 0.9862351 1 0.9931176 NA NA 0.90788 0.7553504 NA NA 0.07835517 0.2446496 NA 0.8316152 NA 0.1615024 NA FALSE NA 1 2.68 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 6/17 rs373479979&COSM290737 1 deleterious(0.01) probably_damaging(0.928) NA A:0.0002 A:0 CGT G,A 2.471e-05 3:131696559 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 missense_variant 7.588745 0.9843 0.92558 0.638212 0.9992374 0 0.7751393 FALSE 4.06372e-05 ENSE00002366740_011 ENSE00002366740 011 3 131415344 131415513 - 42 75 53 G T 131415405 3013 109 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGAACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696560 131696561 131696561 exon -20 0.7466667 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGAACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 184 3522 1 0.9985632 0.9992816 NA NA 0.90788 0.7553504 NA NA 0.09212004 0.2432128 NA 0.8316152 NA 0.1676664 NA FALSE NA 1 8.66 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 6/17 1 deleterious(0) probably_damaging(0.997) NA TGC G,T 8.237e-06 3:131696561 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 missense_variant 6.316738 0.99005 0.98476 0.638212 0.9923489 0 0.7751393 FALSE 4.06336e-06 ENSE00002366740_012 ENSE00002366740 012 3 131415344 131415513 - 42 75 53 C T 131415406 3014 108 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATACACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696561 131696562 131696562 exon -21 0.7333333 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATACACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 109 209 0.9957714 0.9956989 0.9957352 NA NA 0.90788 0.7553504 NA NA 0.08789145 0.2403485 NA 0.8316152 NA 0.16412 NA FALSE NA 1 6.864 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 6/17 rs375570121 1 deleterious(0) probably_damaging(0.995) NA T:0 T:0.0001 GCA C,T 8.237e-06 3:131696562 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 missense_variant 6.574677 0.99016 0.97401 0.638212 0.9992886 0 0.7751393 FALSE 4.06336e-06 ENSE00002366740_013 ENSE00002366740 013 3 131415344 131415513 - 42 75 53 T C 131415408 3015 106 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAGTGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696563 131696564 131696564 exon -23 0.7066667 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAGTGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 347 1387 1 0.9958309 0.9979154 NA NA 0.90788 0.7553504 NA NA 0.09212004 0.2404804 NA 0.8316152 NA 0.1663002 NA FALSE NA 1 3.284 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 6/17 rs574604056 1 tolerated(0.72) benign(0) C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 ATT T,C 4.942e-05 3:131696564 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 missense_variant 0.379311 0.98191 0.74018 0.638212 0.7632525 0 0.7751393 FALSE 4.87539e-05 ENSE00002366740_014 ENSE00002366740 014 3 131415344 131415513 - 42 75 53 C A 131415424 3016 90 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATTTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696579 131696580 131696580 exon 37 0.4933333 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATTTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 1079 222 0.9981485 1 0.9990743 NA NA 0.90788 0.7553504 NA NA 0.09026859 0.2446496 NA 0.8316152 NA 0.1674591 NA FALSE NA 1 5.195 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 6/17 1 deleterious(0.01) possibly_damaging(0.494) NA ACA C,A 8.237e-06 3:131696580 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 missense_variant 4.839783 0.99062 0.97335 0.638212 0.9964087 0 0.7751393 FALSE 4.06319e-06 ENSE00002366740_016 ENSE00002366740 016 3 131415344 131415513 - 42 75 53 G A 131415428 3018 86 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGATTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696583 131696584 131696584 exon 33 0.44 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGATTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 461 1188 0.991924 0.9978573 0.9948907 NA NA 0.90788 0.7553504 NA NA 0.08404407 0.2425069 NA 0.8316152 NA 0.1632755 NA FALSE NA 1 4.504 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 6/17 1 NA AGT G,A 2.471e-05 3:131696584 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 synonymous_variant 0.768704 0.9943 0.96328 0.638212 0.5911567 0 0.7751393 FALSE 2.43799e-05 ENSE00002366740_017 ENSE00002366740 017 3 131415344 131415513 - 42 75 53 G A 131415431 3019 83 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGATGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696586 131696587 131696587 exon 30 0.4 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGATGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 453 34 1 0.9953197 0.9976598 NA NA 0.90788 0.7553504 NA NA 0.09212004 0.2399693 NA 0.8316152 NA 0.1660446 NA FALSE NA 0.761 -0.01 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 6/17 1 NA CGT G,A 1.647e-05 3:131696587 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 synonymous_variant 1.05431 0.95652 0.23179 0.638212 0.5486708 0 0.7751393 FALSE 8.12777e-06 ENSE00002366740_018 ENSE00002366740 018 3 131415344 131415513 - 42 75 53 T C 131415432 3020 82 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGGCGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696587 131696588 131696588 exon 29 0.3866667 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGGCGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 391 191 0.9996079 0.9985929 0.9991004 NA NA 0.90788 0.7553504 NA NA 0.09172789 0.2432425 NA 0.8316152 NA 0.1674852 NA FALSE NA 1 7.057 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 6/17 1 tolerated(0.16) benign(0.359) NA GTC T,C 8.237e-06 3:131696588 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 missense_variant 3.144879 0.99228 0.97858 0.638212 0.9955147 0 0.7751393 FALSE 1.62555e-05 ENSE00002366740_019 ENSE00002366740 019 3 131415344 131415513 - 42 75 53 A C 131415434 3021 80 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAAGGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696589 131696590 131696590 exon 27 0.36 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAAGGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 344 375 0.9749016 1 0.9874508 NA NA 0.90788 0.7553504 NA NA 0.06702167 0.2446496 NA 0.8316152 NA 0.1558356 NA FALSE NA 0.993 0.411 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 6/17 1 tolerated(0.1) probably_damaging(0.994) NA CAT A,C 8.237e-06 3:131696590 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 missense_variant 3.281493 0.97432 0.8601 0.638212 0.9946127 0 0.7751393 FALSE 4.06326e-06 ENSE00002366740_022 ENSE00002366740 022 3 131415344 131415513 - 42 75 53 G A 131415473 3024 41 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGTTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696628 131696629 131696629 upstr_intron -13 -0.2264151 TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGTTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 215 34 1 1 1 NA NA 0.90788 0.7553504 NA NA 0.09212004 0.2446496 NA 0.8316152 NA 0.1683848 NA FALSE NA 0.275 1.505 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 5/16 1 NA AGC G,A 8.237e-06 3:131696629 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 intron_variant 1.536938 0.19176 0.1161 0.053691 0.7678867 0.193114 0.7751393 FALSE 4.06633e-06 ENSE00002366740_023 ENSE00002366740 023 3 131415344 131415513 - 42 75 53 A G 131415489 3025 25 TGGAGCTAAGGAGTTCACCCTCTACTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696644 131696645 131696645 upstr_intron -29 -0.5283019 TGGAGCTAAGGAGTTCACCCTCTACTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 180 239 1 0.9646749 0.9823375 NA NA 0.90788 0.7553504 NA NA 0.09212004 0.2093245 NA 0.8316152 NA 0.1507223 NA FALSE NA 0 -0.214 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 5/16 1 NA AAT A,G 8.237e-06 3:131696645 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 intron_variant -0.042156 0.08154 0.00062 0.053691 0.651944 0.0443366 0.7751393 FALSE 4.07216e-06 ENSE00002366740_025 ENSE00002366740 025 3 131415344 131415513 - 42 75 53 A G 131415493 3027 21 TGGAGCTAAGGAGTTCACCCCCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696648 131696649 131696649 upstr_intron -33 -0.6037736 TGGAGCTAAGGAGTTCACCCCCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 201 313 1 1 1 NA NA 0.90788 0.7553504 NA NA 0.09212004 0.2446496 NA 0.8316152 NA 0.1683848 NA FALSE NA 0 0.361 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 5/16 1 NA GAG A,G 8.237e-06 3:131696649 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 intron_variant -0.077048 0.19346 0.04543 0.053691 0.4487072 0.0443366 0.7751393 FALSE 4.07671e-06 ENSE00002366740_026 ENSE00002366740 026 3 131415344 131415513 - 42 75 53 G A 131415496 3028 18 TGGAGCTAAGGAGTTCATCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 131696651 131696652 131696652 upstr_intron -36 -0.6603774 TGGAGCTAAGGAGTTCATCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG mutant NA NA NA NA NA 927 1125 0.9971754 0.9988026 0.997989 NA NA 0.90788 0.7553504 NA NA 0.08929539 0.2434522 NA 0.8316152 NA 0.1663738 NA FALSE NA 0.024 0.034 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 5/16 1 NA GGT G,A 8.237e-06 3:131696652 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003787748 intron_variant -0.058841 0.17419 0.03926 0.053691 0.3874085 0.0443366 0.7751393 FALSE 8.1652e-06 ENSE00002366740_BRK ENSE00002366740 BRK 3 131415344 131415513 - 42 75 53 A,G; T,T NA NA NA TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTTTGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGCCAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG 131696499 131696669 NA NA NA NA NA NA TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTTTGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGCCAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG TGGAGCTAAGGAGTTCACCCTCTATTGCAGCTGATGTGTGCTTTTTCCTTTAGGTGATTGCTGAAGAATTATCTGGCAATGACGACTATGTTGAGCTTGCATTCAATGCACGGAAATTGGATGACAAGGTAAAGCGTTTGGCATTAACCTTATTGAAGGAAGTAACAAAG control NA NA NA NA NA 204 1751 0 0.009538051 0.004769025 NA NA 0.90788 0.7553504 NA NA -0.90788 -0.7458124 NA 0.8316152 NA -0.8268462 NA TRUE NA NA NA NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003787748 NA NA NA NA NA NA NA 0.7751393 FALSE NA ENSE00002366872_000 ENSE00002366872 000 22 29639366 29639535 + 68 45 57 NA NA NA NA NA TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA 29243376 29243546 NA NA NA NA NA NA TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA natural 12 29 0.85 0.85 0.85 318 540 0.9763213 0.9303456 0.9533334 0.85 0.85 0.9763213 0.9303456 0 0 0 0 0.85 0.9533334 0 0 0 FALSE FALSE NA NA NA NA NA EMID1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EMID1 NA NA NA ENSG00000186998 ENSE00003786137 NA NA NA NA NA NA NA 0.03970773 FALSE NA ENSE00002366872_001 ENSE00002366872 001 22 29639366 29639535 + 68 45 57 T G 29639383 406 18 TCTTTTTTTCCCGTCCCGTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA 29243376 29243546 29243393 29243394 29243394 upstr_intron -51 -0.7352941 TCTTTTTTTCCCGTCCCGTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA mutant NA NA NA NA NA 106 239 0.8855258 1 0.9427629 0.85 0.85 0.9763213 0.9303456 NA NA -0.09079559 0.06965444 0.85 0.9533334 NA -0.01057057 NA FALSE NA 0.001 -0.426 . intron_variant&non_coding_transcript_variant MODIFIER EMID1 HGNC 18036 ENST00000488820 5/7 rs371048903 1 NA G:0 G:0.0001 CTT T,G 8.238e-06 22:29243394 EMID1 HGNC Symbol protein_coding 53746 ENSG00000186998 ENSE00003786137 intron_variant 0.027421 0.14724 0.0523 0.078448 0.3974854 0.0455939 0.03970773 FALSE 4.26945e-06 ENSE00002366872_006 ENSE00002366872 006 22 29639366 29639535 + 68 45 57 G A 29639437 411 72 TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGAAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA 29243376 29243546 29243447 29243448 29243448 exon 4 0.08888889 TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGAAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA mutant NA NA NA NA NA 11 137 0.8230897 0.9771282 0.9001089 0.85 0.85 0.9763213 0.9303456 NA NA -0.1532316 0.04678263 0.85 0.9533334 NA -0.05322451 NA FALSE NA 1 3.039 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EMID1 HGNC 18036 ENST00000488820 6/8 rs574854995 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGA G,A 8.236e-06 22:29243448 EMID1 HGNC Symbol protein_coding 53746 ENSG00000186998 ENSE00003786137 missense_variant 2.700737 0.98437 0.88357 0.615465 0.998417 0 0.03970773 FALSE 4.0661e-06 ENSE00002366872_007 ENSE00002366872 007 22 29639366 29639535 + 68 45 57 G A 29639461 412 96 TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTAGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA 29243376 29243546 29243471 29243472 29243472 exon -18 0.6222222 TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTAGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA mutant NA NA NA NA NA 862 591 0.7632319 0.8018936 0.7825627 0.85 0.85 0.9763213 0.9303456 NA NA -0.2130895 -0.1284519 0.85 0.9533334 NA -0.1707707 NA FALSE NA 1 4.539 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EMID1 HGNC 18036 ENST00000488820 6/8 1 NA TGG G,A 8.236e-06 22:29243472 EMID1 HGNC Symbol protein_coding 53746 ENSG00000186998 ENSE00003786137 missense_variant 5.400278 0.98437 0.92449 0.615465 0.9985943 0 0.03970773 FALSE 4.06339e-06 ENSE00002366872_008 ENSE00002366872 008 22 29639366 29639535 + 68 45 57 C T 29639475 413 110 TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCATTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA 29243376 29243546 29243485 29243486 29243486 exon -4 0.9333333 TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCATTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA mutant NA NA NA NA NA 149 268 0.9047493 0.9816283 0.9431888 0.85 0.85 0.9763213 0.9303456 NA NA -0.07157199 0.0512827 0.85 0.9533334 NA -0.01014464 NA FALSE NA 0.979 -0.033 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER EMID1 HGNC 18036 ENST00000488820 6/8 1 NA ACT C,T 8.237e-06 22:29243486 EMID1 HGNC Symbol protein_coding 53746 ENSG00000186998 ENSE00003786137 synonymous_variant 1.606612 0.95841 0.39168 0.615465 0.6891298 0 0.03970773 FALSE 4.0626e-06 ENSE00002366872_009 ENSE00002366872 009 22 29639366 29639535 + 68 45 57 C T 29639484 414 119 TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGTTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA 29243376 29243546 29243494 29243495 29243495 downstr_intron 6 1.107143 TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGTTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA TCTTTTTTTCCCGTCCCTTTCTGTCTCCTTGCCTTCCTCACTGCTGCTATCTCTGTCTCTCCTTGCAGGGGGAACCTGGCCCTAAGGGAGACCCTGGTGAGAAGAGCCACTGGGTAAGCTCTGGCCTGGCACTGGCCTCTCCCTGCCTTCTCAGCCCTACATGCTCAAGA mutant NA NA NA NA NA 27 320 0.8 0.7927288 0.7963644 0.85 0.85 0.9763213 0.9303456 NA NA -0.1763213 -0.1376167 0.85 0.9533334 NA -0.156969 NA FALSE NA 0.961 0.773 rs181728854 splice_region_variant&intron_variant&non_coding_transcript_variant LOW EMID1 HGNC 18036 ENST00000488820 6/7 rs181728854 1 T:0.0012 T:0.0045 T:0 NA T:0 T:0 T:0 T:0.0011 T:0 GCT C,T 0.000173 22:29243495 EMID1 HGNC Symbol protein_coding 53746 ENSG00000186998 ENSE00003786137 splice_region_variant 1.922562 0.95702 0.66772 0.099367 0.8487898 0.833251 0.03970773 FALSE 0.000134075 ENSE00002367168_000 ENSE00002367168 000 17 9850176 9850345 - 35 90 45 NA NA NA NA NA TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 NA NA NA NA NA NA TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC natural 85 103 0.9939273 0.9785784 0.9862529 334 3405 1 0.997969 0.9989845 0.9939273 0.9785784 1 0.997969 0 0 0 0 0.9862529 0.9989845 0 0 0 FALSE FALSE NA NA NA NA NA GAS7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAS7 NA NA NA ENSG00000007237 ENSE00003787245 NA NA NA NA NA NA NA 0.02552964 FALSE NA ENSE00002367168_001 ENSE00002367168 001 17 9850176 9850345 - 35 90 45 G A 9850197 625 149 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTTAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946879 9946880 9946880 downstr_intron 14 1.411765 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTTAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 187 108 0.9968776 1 0.9984388 0.9939273 0.9785784 1 0.997969 NA NA -0.003122352 0.002031034 0.9862529 0.9989845 NA -0.0005456588 NA FALSE NA 0.967 3.088 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA TGA G,A 1.647e-05 17:9946880 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 intron_variant 0.692432 0.50995 0.678 0.074636 0.7217357 0.736388 0.02552964 FALSE 8.19209e-06 ENSE00002367168_002 ENSE00002367168 002 17 9850176 9850345 - 35 90 45 C T 9850230 626 116 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAACTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946912 9946913 9946913 exon -20 0.7888889 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAACTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 64 290 1 1 1 0.9939273 0.9785784 1 0.997969 NA NA 0 0.002031034 0.9862529 0.9989845 NA 0.001015517 NA FALSE NA 1 6.898 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA GCT C,T 8.236e-06 17:9946913 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 missense_variant 5.420481 0.99365 0.96391 0.626454 0.99276 0 0.02552964 FALSE 4.06474e-06 ENSE00002367168_003 ENSE00002367168 003 17 9850176 9850345 - 35 90 45 G A 9850238 627 108 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACTGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946920 9946921 9946921 exon -28 0.7 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACTGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 225 371 1 0.9250292 0.9625146 0.9939273 0.9785784 1 0.997969 NA NA 0 -0.07293981 0.9862529 0.9989845 NA -0.0364699 NA FALSE NA 0 -3.384 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 COSM244662&COSM1387755 1 NA CGG G,A 8.236e-06 17:9946921 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 synonymous_variant 1.407706 0.14198 0.01801 0.626454 0.8844676 0 0.02552964 FALSE 1.62571e-05 ENSE00002367168_004 ENSE00002367168 004 17 9850176 9850345 - 35 90 45 T C 9850240 628 106 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAGCCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946922 9946923 9946923 exon -30 0.6777778 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAGCCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 879 1394 1 0.9954492 0.9977246 0.9939273 0.9785784 1 0.997969 NA NA 0 -0.002519759 0.9862529 0.9989845 NA -0.001259879 NA FALSE NA 0.548 0.313 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA GTT T,C 1.647e-05 17:9946923 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 missense_variant 1.165776 0.31087 0.06499 0.626454 0.9734578 0 0.02552964 FALSE 1.21914e-05 ENSE00002367168_006 ENSE00002367168 006 17 9850176 9850345 - 35 90 45 T C 9850259 630 87 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAGCAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946941 9946942 9946942 exon 42 0.4666667 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAGCAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 745 956 0.9999447 0.9834324 0.9916886 0.9939273 0.9785784 1 0.997969 NA NA -5.525238e-05 -0.01453652 0.9862529 0.9989845 NA -0.007295887 NA FALSE NA 0.999 0.5 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA GTT T,C 8.236e-06 17:9946942 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 synonymous_variant -0.047847 0.96819 0.31397 0.626454 0.8654753 0 0.02552964 FALSE 4.06279e-06 ENSE00002367168_007 ENSE00002367168 007 17 9850176 9850345 - 35 90 45 C G 9850262 631 84 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCCGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946944 9946945 9946945 exon 39 0.4333333 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCCGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 245 2065 1 0.8874111 0.9437056 0.9939273 0.9785784 1 0.997969 NA NA 0 -0.1105578 0.9862529 0.9989845 NA -0.05527891 NA FALSE NA 0 -3.894 NA NA NA GAS7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:9946945 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 synonymous_variant 1.311262 0.11966 0.01796 0.626454 0.4420587 0 0.02552964 FALSE 4.06316e-06 ENSE00002367168_009 ENSE00002367168 009 17 9850176 9850345 - 35 90 45 G A 9850263 633 83 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCTGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946945 9946946 9946946 exon 38 0.4222222 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCTGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 661 309 0.8543588 0.9193411 0.8868499 0.9939273 0.9785784 1 0.997969 NA NA -0.1456412 -0.07862788 0.9862529 0.9989845 NA -0.1121346 NA FALSE NA 1 5.7 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA CGG G,A 8.236e-06 17:9946946 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 missense_variant 5.299887 0.99382 0.95971 0.626454 0.9970525 0 0.02552964 FALSE 8.12638e-06 ENSE00002367168_010 ENSE00002367168 010 17 9850176 9850345 - 35 90 45 C T 9850268 634 78 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACAATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946950 9946951 9946951 exon 33 0.3666667 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACAATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 1871 836 0.6589134 0.7415693 0.7002414 0.9939273 0.9785784 1 0.997969 NA NA -0.3410866 -0.2563996 0.9862529 0.9989845 NA -0.2987431 NA FALSE NA 0.001 -3.218 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA TCG C,T 4.942e-05 17:9946951 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 synonymous_variant 1.701225 0.08221 0.01014 0.626454 0.803352 0 0.02552964 FALSE 5.28172e-05 ENSE00002367168_012 ENSE00002367168 012 17 9850176 9850345 - 35 90 45 G A 9850279 636 67 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTTACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946961 9946962 9946962 exon 22 0.2444444 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTTACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant 10 32 1 1 1 702 504 0.9913524 0.9969997 0.9941761 0.9939273 0.9785784 1 0.997969 0.006072666 0.02142159 -0.008647565 -0.0009692824 0.9862529 0.9989845 0.01374713 -0.004808424 0.01855555 FALSE FALSE 1 5.143 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA TGA G,A 8.236e-06 17:9946962 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 missense_variant 1.241691 0.97996 0.86101 0.626454 0.942941 0 0.02552964 FALSE 1.21917e-05 ENSE00002367168_013 ENSE00002367168 013 17 9850176 9850345 - 35 90 45 C T 9850286 637 60 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACATTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946968 9946969 9946969 exon 15 0.1666667 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACATTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 1607 905 0.9978517 0.9988138 0.9983328 0.9939273 0.9785784 1 0.997969 NA NA -0.002148279 0.0008448247 0.9862529 0.9989845 NA -0.0006517273 NA FALSE NA 0 -3.904 rs34907720 intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 rs34907720 1 T:0.0008 T:0 T:0 NA T:0 T:0.004 T:0 T:0.0002 T:0.0031 ACG C,T 0.00196 17:9946969 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 synonymous_variant 1.634448 0.05038 0.00887 0.626454 0.6676695 0 0.02552964 FALSE 0.00195095 ENSE00002367168_014 ENSE00002367168 014 17 9850176 9850345 - 35 90 45 G A 9850287 638 59 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGATGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946969 9946970 9946970 exon 14 0.1555556 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGATGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 179 11 1 0.971441 0.9857205 0.9939273 0.9785784 1 0.997969 NA NA 0 -0.02652798 0.9862529 0.9989845 NA -0.01326399 NA FALSE NA 1 8.706 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 COSM4071238&COSM4071239&COSM4071240&COSM4071241 1 NA CGT G,A 1.647e-05 17:9946970 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 missense_variant 6.90369 0.99382 0.97914 0.626454 0.9990251 0 0.02552964 FALSE 8.1283e-06 ENSE00002367168_015 ENSE00002367168 015 17 9850176 9850345 - 35 90 45 G A 9850295 639 51 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAATTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9946977 9946978 9946978 exon 6 0.06666667 TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAATTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 797 1500 1 0.9762844 0.9881422 0.9939273 0.9785784 1 0.997969 NA NA 0 -0.0216846 0.9862529 0.9989845 NA -0.0108423 NA FALSE NA 1 3.181 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA AGT G,A 1.647e-05 17:9946978 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 synonymous_variant 0.558881 0.9898 0.9187 0.638212 0.8145873 0 0.02552964 FALSE 2.43918e-05 ENSE00002367168_017 ENSE00002367168 017 17 9850176 9850345 - 35 90 45 C T 9850332 641 14 TCCAGTCTCCAGCAGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9947014 9947015 9947015 upstr_intron -32 -0.6888889 TCCAGTCTCCAGCAGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 486 1871 1 0.9990382 0.9995191 0.9939273 0.9785784 1 0.997969 NA NA 0 0.001069271 0.9862529 0.9989845 NA 0.0005346354 NA FALSE NA 0 -1.801 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 rs202070958 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 CCG C,T 1.647e-05 17:9947015 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 intron_variant -0.322709 0.14123 0.0107 0.065574 0.7146243 0.0455939 0.02552964 FALSE 2.06005e-05 ENSE00002367168_018 ENSE00002367168 018 17 9850176 9850345 - 35 90 45 G A 9850333 642 13 TCCAGTCTCCAGTGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 9947015 9947016 9947016 upstr_intron -33 -0.7111111 TCCAGTCTCCAGTGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC mutant NA NA NA NA NA 88 593 1 0.9997332 0.9998666 0.9939273 0.9785784 1 0.997969 NA NA 0 0.001764243 0.9862529 0.9989845 NA 0.0008821214 NA FALSE NA 0 -1.64 . intron_variant MODIFIER GAS7 HGNC 4169 ENST00000396115 5/6 1 NA CGC G,A 8.237e-06 17:9947016 GAS7 HGNC Symbol protein_coding 287942 ENSG00000007237 ENSE00003787245 intron_variant -0.116472 0.13942 0.00624 0.065574 0.6566162 0.0455939 0.02552964 FALSE 1.23683e-05 ENSE00002367168_BRK ENSE00002367168 BRK 17 9850176 9850345 - 35 90 45 A,G; T,T NA NA NA TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACTTATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGCCAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC 9946858 9947028 NA NA NA NA NA NA TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACTTATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGCCAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC TCCAGTCTCCAGCGGGGTCATTCTTTCTTGTTCTGTGCCCTACAGATAAACTGTGTGACGTTCCCTCACCCAGACACGATGCCGGAACAGCAGCTGCTGAAACCAACCGAGTGGAGCTACTGCGACTACTTCTGGGTAAGCAGCGCCTCAGTTTCCCCCACAGCGTGACC control NA NA NA NA NA 19 59 1 1 1 0.9939273 0.9785784 1 0.997969 NA NA 0 0.002031034 0.9862529 0.9989845 NA 0.001015517 NA FALSE NA NA NA NA NA NA GAS7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAS7 NA NA NA ENSG00000007237 ENSE00003787245 NA NA NA NA NA NA NA 0.02552964 FALSE NA ENSE00002367344_000 ENSE00002367344 000 17 41164155 41164324 + 41 99 30 NA NA NA NA NA TACCAAACAACACCAGATCTCCCACCTTACCTTGTCTTTGGGGGAGTCCCCGAGCTCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCTGGCCTGCTCCTCCTGAAGGGCGTGGAGGGCCTGTTGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 NA NA NA NA NA NA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA natural 39 44 0.9993276 0.999631 0.9994793 1650 1565 0.8956711 0.9955373 0.9456042 0.9993276 0.999631 0.8956711 0.9955373 0 0 0 0 0.9994793 0.9456042 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFI35 NA NA NA ENSG00000068079 ENSE00003512509 NA NA NA NA NA NA NA 5.69697e-08 FALSE NA ENSE00002367344_002 ENSE00002367344 002 17 41164155 41164324 + 41 99 30 A G 41164191 2059 37 TACCAAACAACACCAGATCTCCCACCTTACCTTGTCTTTGGGGGAGTCCCCGAGCTCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCTGGCCTGCTCCTCCTGAAGGGCGTGGAGGGCCTGTCGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 43012173 43012174 43012174 upstr_intron -5 -0.09756098 AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCGACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA mutant NA NA NA NA NA 65 493 1 0.9999228 0.9999614 0.9993276 0.999631 0.8956711 0.9955373 NA NA 0.1043289 0.004385508 0.9994793 0.9456042 NA 0.05435721 NA FALSE NA 0 0.618 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:43012174 IFI35 HGNC Symbol protein_coding 7731 ENSG00000068079 ENSE00003512509 splice_region_variant -0.092828 0.17952 0.03106 0.256867 0.4249354 0.183561 5.69697e-08 FALSE NA ENSE00002367344_003 ENSE00002367344 003 17 41164155 41164324 + 41 99 30 A C 41164191 2060 37 TACCAAACAACACCAGATCTCCCACCTTACCTTGTCTTTGGGGGAGTCCCCGAGCTCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCTGGCCTGCTCCTCCTGAAGGGCGTGGAGGGCCTGTGGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 43012173 43012174 43012174 upstr_intron -5 -0.09756098 AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCCACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA mutant NA NA NA NA NA 28 138 1 0.9859928 0.9929964 0.9993276 0.999631 0.8956711 0.9955373 NA NA 0.1043289 -0.009544431 0.9994793 0.9456042 NA 0.04739224 NA FALSE NA 0 0.618 NA NA NA VAT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFI35 NA NA NA ENSG00000068079 ENSE00003512509 splice_region_variant -0.403882 0.16991 0.01937 0.256867 0.4132855 0.183561 5.69697e-08 FALSE NA ENSE00002367344_005 ENSE00002367344 005 17 41164155 41164324 + 41 99 30 C T 41164198 2062 44 TACCAAACAACACCAGATCTCCCACCTTACCTTGTCTTTGGGGGAGTCCCCGAGCTCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCTGGCCTGCTCCTCCTGAAGGGCGTGGAGAGCCTGTTGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 43012180 43012181 43012181 exon 3 0.03030303 AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCTCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA mutant NA NA NA NA NA 584 72 1 0.9922397 0.9961198 0.9993276 0.999631 0.8956711 0.9955373 NA NA 0.1043289 -0.003297604 0.9994793 0.9456042 NA 0.05051566 NA FALSE NA 0 -1.28 . downstream_gene_variant MODIFIER VAT1 HGNC 16919 ENST00000587173 1 NA CCC C,T 2.528e-05 17:43012181 IFI35 HGNC Symbol protein_coding 7731 ENSG00000068079 ENSE00003512509 splice_region_variant 0.530676 0.13292 0.00917 0.67177 0.6261149 0 5.69697e-08 FALSE 1.81948e-05 ENSE00002367344_006 ENSE00002367344 006 17 41164155 41164324 + 41 99 30 C T 41164204 2063 50 TACCAAACAACACCAGATCTCCCACCTTACCTTGTCTTTGGGGGAGTCCCCGAGCTCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCTGGCCTGCTCCTCCTGAAGGGCATGGAGGGCCTGTTGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 43012186 43012187 43012187 exon 9 0.09090909 AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCATGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA mutant NA NA NA NA NA 99 71 0.9984485 1 0.9992242 0.9993276 0.999631 0.8956711 0.9955373 NA NA 0.1027774 0.00446274 0.9994793 0.9456042 NA 0.05362007 NA FALSE NA 0 -1.798 . downstream_gene_variant MODIFIER VAT1 HGNC 16919 ENST00000587173 rs373816024 1 NA T:0.0002 T:0 ACG C,T 1.678e-05 17:43012187 IFI35 HGNC Symbol protein_coding 7731 ENSG00000068079 ENSE00003512509 synonymous_variant 0.985015 0.12985 0.00648 0.706548 0.6851509 0 5.69697e-08 FALSE NA ENSE00002367344_008 ENSE00002367344 008 17 41164155 41164324 + 41 99 30 A G 41164226 2065 72 TACCAAACAACACCAGATCTCCCACCTTACCTTGTCTTTGGGGGAGTCCCCGAGCTCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCCGGCCTGCTCCTCCTGAAGGGCGTGGAGGGCCTGTTGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 43012208 43012209 43012209 exon 31 0.3131313 AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCGGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA mutant NA NA NA NA NA 1222 198 0.9969449 1 0.9984725 0.9993276 0.999631 0.8956711 0.9955373 NA NA 0.1012738 0.00446274 0.9994793 0.9456042 NA 0.05286829 NA FALSE NA 0.014 0.998 rs148786311 downstream_gene_variant MODIFIER VAT1 HGNC 16919 ENST00000587173 rs148786311 1 G:0.0016 G:0.0008 G:0 NA G:0 G:0.003 G:0.0041 G:0.0005 G:0.0017 CAG A,G 0.002106 17:43012209 IFI35 HGNC Symbol protein_coding 7731 ENSG00000068079 ENSE00003512509 missense_variant 1.930948 0.28039 0.05906 0.706548 0.9859549 0 5.69697e-08 FALSE 0.0024673 ENSE00002367344_011 ENSE00002367344 011 17 41164155 41164324 + 41 99 30 A G 41164269 2068 115 TACCAAACAACACCAGATCTCCCACCTTACCTTGTCTTTGGGGGAGTCCCCGAGCCCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCTGGCCTGCTCCTCCTGAAGGGCGTGGAGGGCCTGTTGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 43012251 43012252 43012252 exon -26 0.7474747 AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGGGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA mutant NA NA NA NA NA 292 941 0.9890812 0.9997914 0.9944363 0.9993276 0.999631 0.8956711 0.9955373 NA NA 0.09341007 0.00425413 0.9994793 0.9456042 NA 0.0488321 NA FALSE NA 0 0.305 . downstream_gene_variant MODIFIER VAT1 HGNC 16919 ENST00000587173 1 NA GAG A,G 8.362e-06 17:43012252 IFI35 HGNC Symbol protein_coding 7731 ENSG00000068079 ENSE00003512509 missense_variant 0.823727 0.24526 0.04109 0.706548 0.9594126 0 5.69697e-08 FALSE NA ENSE00002367344_014 ENSE00002367344 014 17 41164155 41164324 + 41 99 30 C T 41164285 2071 131 TACCAAACAACACCAGATCTCCCACCTTACCTTGTCTTTAGGGGAGTCCCCGAGCTCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCTGGCCTGCTCCTCCTGAAGGGCGTGGAGGGCCTGTTGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 43012267 43012268 43012268 exon -10 0.9090909 AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCTAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA mutant NA NA NA NA NA 200 458 1 1 1 0.9993276 0.999631 0.8956711 0.9955373 NA NA 0.1043289 0.00446274 0.9994793 0.9456042 NA 0.05439583 NA FALSE NA 0 -0.956 rs181113428 downstream_gene_variant MODIFIER VAT1 HGNC 16919 ENST00000587173 rs181113428 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCA C,T 6.73e-05 17:43012268 IFI35 HGNC Symbol protein_coding 7731 ENSG00000068079 ENSE00003512509 synonymous_variant 0.44855 0.18459 0.0156 0.706548 0.638082 0 5.69697e-08 FALSE 0.00019657 ENSE00002367344_BRK ENSE00002367344 BRK 17 41164155 41164324 + 41 99 30 A,G; T,T NA NA NA TACCAAACAACACCAGATCTCCCACCTTGGCTTGTCTTTGGGGGAGTCCCCGAGCTCCTTTCTCAGCTGCTGCAGGTCCCACAGCCTCATCTTGAGTCTGGCCTGCTCCTCCTGAAGGGCGTGGAGGGCAAGTTGGGGCAGAAGGAAACAACAAGACTTCTACCCGCCCT 43012137 43012307 NA NA NA NA NA NA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACTTGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGCCAAGGTGGGAGATCTGGTGTTGTTTGGTA AGGGCGGGTAGAAGTCTTGTTGTTTCCTTCTGCCCCAACAGGCCCTCCACGCCCTTCAGGAGGAGCAGGCCAGACTCAAGATGAGGCTGTGGGACCTGCAGCAGCTGAGAAAGGAGCTCGGGGACTCCCCCAAAGACAAGGTAAGGTGGGAGATCTGGTGTTGTTTGGTA control 61 89 0 0 0 NA NA NA NA NA 0.9993276 0.999631 0.8956711 0.9955373 -0.9993276 -0.999631 NA NA 0.9994793 0.9456042 -0.9994793 NA NA NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003512509 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002367916_000 ENSE00002367916 000 17 613734 613903 - 39 81 50 NA NA NA NA NA ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 NA NA NA NA NA NA ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT natural NA NA NA NA NA 5371 3625 0.9329166 0.8559828 0.8944497 NA NA 0.9329166 0.8559828 NA NA 0 0 NA 0.8944497 NA 0 NA FALSE NA NA NA NA NA NA VPS53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS53 NA NA NA ENSG00000141252 ENSE00003609293 NA NA NA NA NA NA NA 4.99655e-05 FALSE NA ENSE00002367916_001 ENSE00002367916 001 17 613734 613903 - 39 81 50 A C 613749 33 155 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTGCCTTTCAGCAGCTTT 710493 710663 710508 710509 710509 downstr_intron 24 1.631579 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTGCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 1249 283 0.9827402 0.9994407 0.9910904 NA NA 0.9329166 0.8559828 NA NA 0.04982354 0.1434579 NA 0.8944497 NA 0.09664072 NA FALSE NA 0.02 0.796 . intron_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/2 1 NA GAA A,C 8.236e-06 17:710509 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 intron_variant -0.05258 0.18616 0.18528 0.295142 0.4842935 0.0715842 4.99655e-05 FALSE 4.08841e-06 ENSE00002367916_004 ENSE00002367916 004 17 613734 613903 - 39 81 50 C T 613776 36 128 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAACAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710535 710536 710536 exon -4 0.962963 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAACAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 625 26 0.9994059 1 0.9997029 NA NA 0.9329166 0.8559828 NA NA 0.06648926 0.1440172 NA 0.8944497 NA 0.1052532 NA FALSE NA 0.987 0.147 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 rs377420718 1 NA T:0 T:0.0001 GCT C,T 1.647e-05 17:710536 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 synonymous_variant 0.89357 0.94827 0.55608 0.736574 0.3593001 0 4.99655e-05 FALSE 1.62636e-05 ENSE00002367916_005 ENSE00002367916 005 17 613734 613903 - 39 81 50 T C 613777 37 127 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGGGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710536 710537 710537 exon -5 0.9506173 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGGGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 1199 1232 0.9944937 0.9989656 0.9967297 NA NA 0.9329166 0.8559828 NA NA 0.06157704 0.1429828 NA 0.8944497 NA 0.1022799 NA FALSE NA 1 6.741 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 1 NA CTC T,C 5.765e-05 17:710537 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 missense_variant 5.191806 0.98241 0.9519 0.736574 0.9991311 0 4.99655e-05 FALSE 3.65883e-05 ENSE00002367916_006 ENSE00002367916 006 17 613734 613903 - 39 81 50 C T 613778 38 126 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCAAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710537 710538 710538 exon -6 0.9382716 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCAAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 371 141 0.9983241 1 0.9991621 NA NA 0.9329166 0.8559828 NA NA 0.06540752 0.1440172 NA 0.8944497 NA 0.1047123 NA FALSE NA 1 6.557 rs150204494 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 rs150204494&COSM982515&COSM1384954 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 1.647e-05 17:710538 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 missense_variant 6.605052 0.9859 0.95505 0.736574 0.9992467 0 4.99655e-05 FALSE 1.21986e-05 ENSE00002367916_007 ENSE00002367916 007 17 613734 613903 - 39 81 50 T C 613781 39 123 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAGCCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710540 710541 710541 exon -9 0.9012346 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAGCCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 130 722 1 0.9991522 0.9995761 NA NA 0.9329166 0.8559828 NA NA 0.06708338 0.1431693 NA 0.8944497 NA 0.1051263 NA FALSE NA 1 6.741 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 1 NA GTT T,C 3.295e-05 17:710541 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 missense_variant 4.533649 0.98241 0.9519 0.736574 0.9979396 0 4.99655e-05 FALSE 2.84502e-05 ENSE00002367916_008 ENSE00002367916 008 17 613734 613903 - 39 81 50 C A 613788 40 116 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTTTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710547 710548 710548 exon -16 0.8148148 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTTTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 294 48 1 0.947618 0.973809 NA NA 0.9329166 0.8559828 NA NA 0.06708338 0.09163514 NA 0.8944497 NA 0.07935926 NA FALSE NA 0.98 -0.095 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 1 NA ACA C,A 8.236e-06 17:710548 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 synonymous_variant 1.635455 0.93068 0.48864 0.736574 0.5948449 0 4.99655e-05 FALSE 4.06303e-06 ENSE00002367916_009 ENSE00002367916 009 17 613734 613903 - 39 81 50 G C 613790 41 114 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCGTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710549 710550 710550 exon -18 0.7901235 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCGTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 161 1825 1 0.9073745 0.9536872 NA NA 0.9329166 0.8559828 NA NA 0.06708338 0.05139165 NA 0.8944497 NA 0.05923752 NA FALSE NA 1 2.289 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:710550 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 missense_variant 2.622443 0.96171 0.89199 0.736574 0.9955521 0 4.99655e-05 FALSE 8.12493e-06 ENSE00002367916_011 ENSE00002367916 011 17 613734 613903 - 39 81 50 G C 613791 43 113 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACGCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710550 710551 710551 exon -19 0.7777778 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACGCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 1288 1439 0.9994877 0.9934182 0.9964529 NA NA 0.9329166 0.8559828 NA NA 0.06657104 0.1374354 NA 0.8944497 NA 0.1020032 NA FALSE NA 0.997 0.259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:710551 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 synonymous_variant -0.06278 0.9654 0.77084 0.736574 0.6738431 0 4.99655e-05 FALSE 2.84359e-05 ENSE00002367916_012 ENSE00002367916 012 17 613734 613903 - 39 81 50 G A 613791 44 113 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACTCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710550 710551 710551 exon -19 0.7777778 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACTCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 2458 11 1 1 1 NA NA 0.9329166 0.8559828 NA NA 0.06708338 0.1440172 NA 0.8944497 NA 0.1055503 NA FALSE NA 0.997 0.259 NA NA NA VPS53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS53 NA NA NA ENSG00000141252 ENSE00003609293 synonymous_variant 0.588801 0.96302 0.66275 0.736574 0.6891787 0 4.99655e-05 FALSE 8.12453e-06 ENSE00002367916_013 ENSE00002367916 013 17 613734 613903 - 39 81 50 T C 613795 45 109 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAGTACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710554 710555 710555 exon -23 0.7283951 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAGTACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 262 96 0.8360333 0.998349 0.9171912 NA NA 0.9329166 0.8559828 NA NA -0.09688329 0.1423662 NA 0.8944497 NA 0.02274143 NA FALSE NA 1 6.741 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 1 NA ATT T,C 8.236e-06 17:710555 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 missense_variant 4.189271 0.98299 0.95104 0.736574 0.998796 0 4.99655e-05 FALSE 4.06204e-06 ENSE00002367916_014 ENSE00002367916 014 17 613734 613903 - 39 81 50 A G 613800 46 104 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTACATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710559 710560 710560 exon -28 0.6666667 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTACATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 2821 92 0.932635 0.7359003 0.8342676 NA NA 0.9329166 0.8559828 NA NA -0.0002816437 -0.1200825 NA 0.8944497 NA -0.06018209 NA FALSE NA 0.932 0.2 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 1 NA TAT A,G 8.236e-06 17:710560 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 synonymous_variant -1.238523 0.94007 0.45208 0.736574 0.2729216 0 4.99655e-05 FALSE 4.06171e-06 ENSE00002367916_015 ENSE00002367916 015 17 613734 613903 - 39 81 50 A C 613816 47 88 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTGCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710575 710576 710576 exon 38 0.4691358 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTGCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 126 6278 0.9072525 0.7938619 0.8505572 NA NA 0.9329166 0.8559828 NA NA -0.02566416 -0.06212097 NA 0.8944497 NA -0.04389257 NA FALSE NA 1 7.823 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 1 NA GAA A,C 8.236e-06 17:710576 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 missense_variant 5.723392 0.98371 0.97205 0.732398 0.9950079 0 4.99655e-05 FALSE 4.06171e-06 ENSE00002367916_017 ENSE00002367916 017 17 613734 613903 - 39 81 50 T C 613830 49 74 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTGGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710589 710590 710590 exon 24 0.2962963 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTGGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 1288 665 1 0.9962981 0.998149 NA NA 0.9329166 0.8559828 NA NA 0.06708338 0.1403152 NA 0.8944497 NA 0.1036993 NA FALSE NA 0.995 0.253 rs148258317 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 rs148258317 1 NA C:0.0002 C:0 CTA T,C 8.236e-06 17:710590 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 synonymous_variant 0.245411 0.94781 0.51359 0.732398 0.7113203 0 4.99655e-05 FALSE 8.12348e-06 ENSE00002367916_019 ENSE00002367916 019 17 613734 613903 - 39 81 50 G A 613842 51 62 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGTCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710601 710602 710602 exon 12 0.1481481 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGTCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 207 26 0.9901724 0.9616518 0.9759121 NA NA 0.9329166 0.8559828 NA NA 0.05725578 0.1056689 NA 0.8944497 NA 0.08146236 NA FALSE NA 1 1.103 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 1 NA GGC G,A 4.118e-05 17:710602 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 synonymous_variant 0.823326 0.95313 0.73335 0.732398 0.6893303 0 4.99655e-05 FALSE 6.0938e-05 ENSE00002367916_020 ENSE00002367916 020 17 613734 613903 - 39 81 50 G A 613847 52 57 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTTCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710606 710607 710607 exon 7 0.08641975 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTTCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 1318 744 0.9977254 0.9973479 0.9975366 NA NA 0.9329166 0.8559828 NA NA 0.06480874 0.141365 NA 0.8944497 NA 0.1030869 NA FALSE NA 1 8.265 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 2/3 1 NA GGA G,A 1.647e-05 17:710607 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 missense_variant 2.375796 0.98649 0.97241 0.732398 0.9989413 0 4.99655e-05 FALSE 8.12625e-06 ENSE00002367916_023 ENSE00002367916 023 17 613734 613903 - 39 81 50 T C 613857 55 47 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATGTAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710616 710617 710617 upstr_intron -4 -0.06 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATGTAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 509 1223 0.9999191 0.9998707 0.9998949 NA NA 0.9329166 0.8559828 NA NA 0.0670025 0.1438878 NA 0.8944497 NA 0.1054452 NA FALSE NA 0 -5.791 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW VPS53 HGNC 25608 ENST00000571456 1/2 1 NA ATA T,C 8.236e-06 17:710617 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 splice_region_variant -0.15508 0.08696 0.00473 0.106106 0.558959 0.0794123 4.99655e-05 FALSE 4.07113e-06 ENSE00002367916_025 ENSE00002367916 025 17 613734 613903 - 39 81 50 A C 613860 57 44 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCGATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710619 710620 710620 upstr_intron -7 -0.12 ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCGATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 204 1435 1 0.9983115 0.9991558 NA NA 0.9329166 0.8559828 NA NA 0.06708338 0.1423287 NA 0.8944497 NA 0.104706 NA FALSE NA 0.176 3.204 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW VPS53 HGNC 25608 ENST00000571456 1/2 1 NA TAG A,C 8.236e-06 17:710620 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 splice_region_variant -0.106412 0.32377 0.89217 0.106106 0.6335466 0.0698953 4.99655e-05 FALSE NA ENSE00002367916_026 ENSE00002367916 026 17 613734 613903 - 39 81 50 G C 613867 58 37 ATTTACGGTATACTACATGTTTTTATATATACTCCTGTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710626 710627 710627 upstr_intron -14 -0.26 ATTTACGGTATACTACATGTTTTTATATATACTCCTGTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 1999 1015 0.9105018 0.865643 0.8880724 NA NA 0.9329166 0.8559828 NA NA -0.02241481 0.009660149 NA 0.8944497 NA -0.006377329 NA FALSE NA 0 0.124 NA NA NA VPS53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:710627 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 intron_variant -0.188265 0.21776 0.0948 0.106106 0.4962147 0.0455939 4.99655e-05 FALSE 1.64241e-05 ENSE00002367916_028 ENSE00002367916 028 17 613734 613903 - 39 81 50 A G 613868 60 36 ATTTACGGTATACTACATGTTTTTATATATACTCCCCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710627 710628 710628 upstr_intron -15 -0.28 ATTTACGGTATACTACATGTTTTTATATATACTCCCCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 670 123 0.9871746 1 0.9935873 NA NA 0.9329166 0.8559828 NA NA 0.05425802 0.1440172 NA 0.8944497 NA 0.09913759 NA FALSE NA 0 -0.101 . intron_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 1/2 1 NA GAG A,G 8.236e-06 17:710628 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 intron_variant -0.002212 0.12152 0.00419 0.106106 0.5037521 0.0455939 4.99655e-05 FALSE 4.1399e-06 ENSE00002367916_029 ENSE00002367916 029 17 613734 613903 - 39 81 50 G A 613870 61 34 ATTTACGGTATACTACATGTTTTTATATATACTTCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710629 710630 710630 upstr_intron -17 -0.32 ATTTACGGTATACTACATGTTTTTATATATACTTCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 228 81 1 1 1 NA NA 0.9329166 0.8559828 NA NA 0.06708338 0.1440172 NA 0.8944497 NA 0.1055503 NA FALSE NA 0 0.643 . intron_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 1/2 1 NA GGA G,A 8.236e-06 17:710630 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 intron_variant -0.35166 0.13894 0.0198 0.106106 0.5192936 0.0455939 4.99655e-05 FALSE 8.28603e-06 ENSE00002367916_030 ENSE00002367916 030 17 613734 613903 - 39 81 50 T C 613875 62 29 ATTTACGGTATACTACATGTTTTTATATGTACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710634 710635 710635 upstr_intron -22 -0.42 ATTTACGGTATACTACATGTTTTTATATGTACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 185 272 0.9997773 1 0.9998887 NA NA 0.9329166 0.8559828 NA NA 0.06686072 0.1440172 NA 0.8944497 NA 0.1054389 NA FALSE NA 0.01 -0.318 . intron_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 1/2 1 NA ATA T,C 1.647e-05 17:710635 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 intron_variant -0.131753 0.13277 0.02243 0.106106 0.4242857 0.0455939 4.99655e-05 FALSE 1.24967e-05 ENSE00002367916_031 ENSE00002367916 031 17 613734 613903 - 39 81 50 A G 613886 63 18 ATTTACGGTATACTACACGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710645 710646 710646 upstr_intron -33 -0.64 ATTTACGGTATACTACACGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 894 2263 0.9117793 0.993589 0.9526842 NA NA 0.9329166 0.8559828 NA NA -0.02113727 0.1376061 NA 0.8944497 NA 0.05823443 NA FALSE NA 0.685 3.495 . intron_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 1/2 1 NA CAT A,G 8.237e-06 17:710646 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 intron_variant 0.074539 0.29482 0.77096 0.106106 0.2983263 0.0455939 4.99655e-05 FALSE 4.22037e-06 ENSE00002367916_032 ENSE00002367916 032 17 613734 613903 - 39 81 50 T C 613892 64 12 ATTTACGGTATGCTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 710651 710652 710652 upstr_intron -39 -0.76 ATTTACGGTATGCTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT mutant NA NA NA NA NA 421 436 0.9632263 0.8060906 0.8846584 NA NA 0.9329166 0.8559828 NA NA 0.03030968 -0.04989224 NA 0.8944497 NA -0.009791284 NA FALSE NA 0 0.356 rs77192280 intron_variant&non_coding_transcript_variant MODIFIER VPS53 HGNC 25608 ENST00000571456 1/2 rs77192280 1 NA GTA T,C 1.648e-05 17:710652 VPS53 HGNC Symbol protein_coding 213049 ENSG00000141252 ENSE00003609293 intron_variant 0.041516 0.10703 0.01134 0.106106 0.31603 0.0455939 4.99655e-05 FALSE 3.43953e-05 ENSE00002367916_BRK ENSE00002367916 BRK 17 613734 613903 - 39 81 50 A,G; T,T NA NA NA ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATTTGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAACCAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT 710493 710663 NA NA NA NA NA NA ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATTTGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAACCAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT ATTTACGGTATACTACATGTTTTTATATATACTCCTCTCTTTCTATATAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGATTTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAAGTAAGTAGAGTTTCAGGTTTCCTTCCTTTCAGCAGCTTT control NA NA NA NA NA 225 887 0.03426302 0.01738328 0.02582315 NA NA 0.9329166 0.8559828 NA NA -0.8986536 -0.8385996 NA 0.8944497 NA -0.8686266 NA TRUE NA NA NA NA NA NA VPS53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS53 NA NA NA ENSG00000141252 ENSE00003609293 NA NA NA NA NA NA NA 4.99655e-05 FALSE NA ENSE00002368126_000 ENSE00002368126 000 5 138239994 138240163 + 44 93 33 NA NA NA NA NA GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 NA NA NA NA NA NA GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC natural 14 29 0.9986612 0.993923 0.9962921 5144 3905 0.9191085 0.974251 0.9466797 0.9986612 0.993923 0.9191085 0.974251 0 0 0 0 0.9962921 0.9466797 0 0 0 FALSE FALSE NA NA NA NA NA CTNNA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNNA1 NA NA NA ENSG00000044115 ENSE00003613458 NA NA NA NA NA NA NA 0.9705543 TRUE NA ENSE00002368126_001 ENSE00002368126 001 5 138239994 138240163 + 44 93 33 T A 138240013 1291 20 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTTAAGATTTTTCTCTTTTGAC 138904304 138904474 138904323 138904324 138904324 upstr_intron -25 -0.5454545 GTCAAAAGAGAAAAATCTTAAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 179 937 1 0.9988134 0.9994067 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.02456239 0.9962921 0.9466797 NA 0.05272697 NA FALSE NA 0 -0.552 . intron_variant MODIFIER CTNNA1 HGNC 2509 ENST00000540387 3/11 1 NA TTA T,A 8.237e-06 5:138904324 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 intron_variant 1.903979 0.24387 0.0414 0.295142 0.8533571 0.289973 0.9705543 TRUE 4.20659e-06 ENSE00002368126_002 ENSE00002368126 002 5 138239994 138240163 + 44 93 33 A C 138240015 1292 22 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTGTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904325 138904326 138904326 upstr_intron -23 -0.5 GTCAAAAGAGAAAAATCTTTACAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 2154 999 0.9925282 1 0.9962641 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.0734197 0.02574901 0.9962921 0.9466797 NA 0.04958435 NA FALSE NA 0.001 0.911 . intron_variant MODIFIER CTNNA1 HGNC 2509 ENST00000540387 3/11 1 NA AAA A,C 8.237e-06 5:138904326 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 intron_variant 1.732881 0.24034 0.21389 0.295142 0.835875 0.289973 0.9705543 TRUE 4.18782e-06 ENSE00002368126_003 ENSE00002368126 003 5 138239994 138240163 + 44 93 33 G T 138240017 1293 24 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATATTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904327 138904328 138904328 upstr_intron -21 -0.4545455 GTCAAAAGAGAAAAATCTTTAAATATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 323 687 0.9829637 0.9992207 0.9910922 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.06385523 0.02496968 0.9962921 0.9466797 NA 0.04441246 NA FALSE NA 0 0.412 . intron_variant MODIFIER CTNNA1 HGNC 2509 ENST00000540387 3/11 1 NA AGA G,T 8.237e-06 5:138904328 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 intron_variant 1.683199 0.22728 0.13387 0.295142 0.8259601 0.365022 0.9705543 TRUE 4.17631e-06 ENSE00002368126_004 ENSE00002368126 004 5 138239994 138240163 + 44 93 33 T C 138240019 1294 26 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAGTCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904329 138904330 138904330 upstr_intron -19 -0.4090909 GTCAAAAGAGAAAAATCTTTAAAGACTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 265 370 1 1 1 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.02574901 0.9962921 0.9466797 NA 0.05332027 NA FALSE NA 0 0.362 . intron_variant MODIFIER CTNNA1 HGNC 2509 ENST00000540387 3/11 1 NA ATT T,C 5.766e-05 5:138904330 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 intron_variant 1.582058 0.22975 0.04311 0.295142 0.8568726 0.289973 0.9705543 TRUE 3.74738e-05 ENSE00002368126_005 ENSE00002368126 005 5 138239994 138240163 + 44 93 33 T A 138240026 1295 33 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATATAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904336 138904337 138904337 upstr_intron -12 -0.25 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTATATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 365 225 1 0.9998307 0.9999153 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.02557969 0.9962921 0.9466797 NA 0.05323561 NA FALSE NA 0.012 -0.009 . intron_variant MODIFIER CTNNA1 HGNC 2509 ENST00000540387 3/11 1 NA TTT T,A 8.236e-06 5:138904337 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 intron_variant 2.28399 0.20661 0.26141 0.295142 0.8531925 0.378537 0.9705543 TRUE 4.17599e-06 ENSE00002368126_006 ENSE00002368126 006 5 138239994 138240163 + 44 93 33 T C 138240029 1296 36 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACGTAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904339 138904340 138904340 upstr_intron -9 -0.1818182 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTACGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 595 101 0.9879295 1 0.9939648 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.06882105 0.02574901 0.9962921 0.9466797 NA 0.04728503 NA FALSE NA 0.01 1.527 . intron_variant MODIFIER CTNNA1 HGNC 2509 ENST00000540387 3/11 1 NA ATG T,C 8.236e-06 5:138904340 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 intron_variant 2.174601 0.39769 0.36945 0.295142 0.8957917 0.382733 0.9705543 TRUE 4.18088e-06 ENSE00002368126_007 ENSE00002368126 007 5 138239994 138240163 + 44 93 33 T C 138240035 1297 42 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTGTAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904345 138904346 138904346 upstr_intron -3 -0.04545455 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTACAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 1834 64 0.9205219 0.9975208 0.9590214 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.001413468 0.02326979 0.9962921 0.9466797 NA 0.01234163 NA FALSE NA 0.009 0.024 . splice_region_variant&intron_variant LOW CTNNA1 HGNC 2509 ENST00000540387 3/11 1 NA ATA T,C 8.236e-06 5:138904346 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 splice_region_variant 1.340582 0.33218 0.08655 0.295142 0.8055532 0.406845 0.9705543 TRUE 4.10007e-06 ENSE00002368126_008 ENSE00002368126 008 5 138239994 138240163 + 44 93 33 C A 138240042 1298 49 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGTCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904352 138904353 138904353 exon 5 0.05376344 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGACAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 170 98 1 1 1 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.02574901 0.9962921 0.9466797 NA 0.05332027 NA FALSE NA 1 6.811 . missense_variant MODERATE CTNNA1 HGNC 2509 ENST00000540387 4/12 1 deleterious(0) probably_damaging(1) NA GCC C,A 8.236e-06 5:138904353 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 7.286039 0.99559 0.98985 0.722319 0.9970197 0 0.9705543 TRUE 4.10921e-06 ENSE00002368126_009 ENSE00002368126 009 5 138239994 138240163 + 44 93 33 A G 138240045 1299 52 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGCTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904355 138904356 138904356 exon 8 0.08602151 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAGCTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 47 586 1 1 1 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.02574901 0.9962921 0.9466797 NA 0.05332027 NA FALSE NA 1 8.13 . missense_variant MODERATE CTNNA1 HGNC 2509 ENST00000540387 4/12 1 tolerated(0.14) benign(0.051) NA AAC A,G 6.589e-05 5:138904356 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 2.689935 0.99456 0.99164 0.722319 0.9979219 0 0.9705543 TRUE 6.5406e-05 ENSE00002368126_010 ENSE00002368126 010 5 138239994 138240163 + 44 93 33 C T 138240051 1300 58 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGACCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904361 138904362 138904362 exon 14 0.1505376 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGTCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 770 1203 0.9980038 0.9996054 0.9988046 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.07889538 0.02535441 0.9962921 0.9466797 NA 0.0521249 NA FALSE NA 1 6.811 rs138782455 missense_variant MODERATE CTNNA1 HGNC 2509 ENST00000540387 4/12 rs138782455 1 tolerated(0.33) benign(0.105) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 GCC C,T 0.0003047 5:138904362 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 4.036784 0.99546 0.9877 0.722319 0.9981022 0 0.9705543 TRUE 0.000467624 ENSE00002368126_011 ENSE00002368126 011 5 138239994 138240163 + 44 93 33 C G 138240052 1301 59 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACACGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904362 138904363 138904363 exon 15 0.1612903 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCGTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 131 204 1 0.999224 0.999612 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.02497296 0.9962921 0.9466797 NA 0.05293225 NA FALSE NA 0.999 0.445 . synonymous_variant LOW CTNNA1 HGNC 2509 ENST00000540387 4/12 1 NA CCT C,G 4.118e-05 5:138904363 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 synonymous_variant 1.851133 0.98711 0.92148 0.722319 0.7310159 0 0.9705543 TRUE 6.0991e-05 ENSE00002368126_012 ENSE00002368126 012 5 138239994 138240163 + 44 93 33 G C 138240054 1302 61 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAAGAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904364 138904365 138904365 exon 17 0.1827957 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTCTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 900 1098 0.9986351 1 0.9993175 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.07952659 0.02574901 0.9962921 0.9466797 NA 0.0526378 NA FALSE NA 1 8.591 NA NA NA CTNNA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:138904365 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 6.30045 0.99602 0.99391 0.722319 0.9939912 0 0.9705543 TRUE NA ENSE00002368126_014 ENSE00002368126 014 5 138239994 138240163 + 44 93 33 C T 138240058 1304 65 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATAGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904368 138904369 138904369 exon 21 0.2258065 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCTATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 177 638 0.9885165 0.9600697 0.9742931 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.06940801 -0.01418127 0.9962921 0.9466797 NA 0.02761337 NA FALSE NA 0.957 -0.12 . synonymous_variant LOW CTNNA1 HGNC 2509 ENST00000540387 4/12 COSM3661436 1 NA CCA C,T 8.236e-06 5:138904369 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 synonymous_variant 1.875656 0.96571 0.60513 0.722319 0.728006 0 0.9705543 TRUE 4.0625e-06 ENSE00002368126_015 ENSE00002368126 015 5 138239994 138240163 + 44 93 33 A G 138240059 1305 66 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGACGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904369 138904370 138904370 exon 22 0.2365591 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCGTCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 559 511 0.9918135 0.9996904 0.995752 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.07270507 0.02543939 0.9962921 0.9466797 NA 0.04907223 NA FALSE NA 1 8.13 . missense_variant MODERATE CTNNA1 HGNC 2509 ENST00000540387 4/12 rs368676572 1 deleterious(0.04) benign(0.008) NA G:0 G:0.0001 CAT A,G 8.236e-06 5:138904370 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 2.684733 0.9922 0.98716 0.722319 0.9968579 0 0.9705543 TRUE 4.0621e-06 ENSE00002368126_016 ENSE00002368126 016 5 138239994 138240163 + 44 93 33 T C 138240070 1306 77 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCGTTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904380 138904381 138904381 exon 33 0.3548387 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAACGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 578 189 0.9851766 0.9895843 0.9873804 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.06606812 0.01533333 0.9962921 0.9466797 NA 0.04070072 NA FALSE NA 1 0.888 . synonymous_variant LOW CTNNA1 HGNC 2509 ENST00000540387 4/12 1 NA ATG T,C 0.0001235 5:138904381 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 synonymous_variant 0.493041 0.96889 0.80144 0.722319 0.6407543 0 0.9705543 TRUE 0.000199009 ENSE00002368126_018 ENSE00002368126 018 5 138239994 138240163 + 44 93 33 T G 138240087 1308 94 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACACGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904397 138904398 138904398 exon -44 0.5376344 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCGTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 636 1262 0.9990906 0.9964864 0.9977885 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.07998211 0.02223543 0.9962921 0.9466797 NA 0.05110877 NA FALSE NA 1 7.003 . missense_variant MODERATE CTNNA1 HGNC 2509 ENST00000540387 4/12 1 deleterious(0.02) benign(0.12) NA CTT T,G 8.236e-06 5:138904398 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 4.34607 0.99218 0.98241 0.722319 0.9967574 0 0.9705543 TRUE 4.06111e-06 ENSE00002368126_019 ENSE00002368126 019 5 138239994 138240163 + 44 93 33 G A 138240093 1309 100 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTTGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904403 138904404 138904404 exon -38 0.6021505 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCAAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 1025 247 1 0.9992042 0.9996021 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.0249532 0.9962921 0.9466797 NA 0.05292237 NA FALSE NA 1 6.812 . missense_variant MODERATE CTNNA1 HGNC 2509 ENST00000540387 4/12 1 tolerated(0.48) benign(0.077) NA CGA G,A 9.884e-05 5:138904404 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 4.123695 0.98991 0.97761 0.722319 0.9968702 0 0.9705543 TRUE 6.90395e-05 ENSE00002368126_020 ENSE00002368126 020 5 138239994 138240163 + 44 93 33 A C 138240095 1310 102 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACAGTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904405 138904406 138904406 exon -36 0.6236559 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGACTGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 948 188 0.9978456 0.9895292 0.9936874 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.07873718 0.01527821 0.9962921 0.9466797 NA 0.0470077 NA FALSE NA 1 8.13 . missense_variant MODERATE CTNNA1 HGNC 2509 ENST00000540387 4/12 rs372832887 1 tolerated(0.75) benign(0) NA C:0 C:0.0001 AAT A,C 8.236e-06 5:138904406 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 2.054883 0.99232 0.98818 0.722319 0.9112035 0 0.9705543 TRUE 4.06098e-06 ENSE00002368126_021 ENSE00002368126 021 5 138239994 138240163 + 44 93 33 G A 138240097 1311 104 GTTATGCTGTCACCAGTGTCAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGATATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904407 138904408 138904408 exon -34 0.6451613 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATATCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 556 171 0.8350016 0.999074 0.9170378 0.9986612 0.993923 0.9191085 0.974251 NA NA -0.08410686 0.02482301 0.9962921 0.9466797 NA -0.02964192 NA FALSE NA 1 6.844 . missense_variant MODERATE CTNNA1 HGNC 2509 ENST00000540387 4/12 COSM3720275 1 tolerated(0.22) benign(0.001) NA TGT G,A 3.295e-05 5:138904408 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 missense_variant 3.239977 0.99404 0.98107 0.722319 0.9881391 0 0.9705543 TRUE 5.6856e-05 ENSE00002368126_022 ENSE00002368126 022 5 138239994 138240163 + 44 93 33 G A 138240136 1312 143 GTTATGCTGTCACCAGTGTCAGTTGTATTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904446 138904447 138904447 downstr_intron 6 1.1875 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAATACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 115 519 1 0.993396 0.996698 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.01914501 0.9962921 0.9466797 NA 0.05001827 NA FALSE NA 0.47 0.688 . splice_region_variant&intron_variant LOW CTNNA1 HGNC 2509 ENST00000540387 4/11 1 NA AGT G,A 8.236e-06 5:138904447 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 splice_region_variant 0.762721 0.65041 0.09546 0.099367 0.4100779 0.50115 0.9705543 TRUE 4.08247e-06 ENSE00002368126_023 ENSE00002368126 023 5 138239994 138240163 + 44 93 33 T C 138240137 1313 144 GTTATGCTGTCACCAGTGTCAGTTGTGCTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904447 138904448 138904448 downstr_intron 7 1.21875 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGCACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 595 423 0.9979768 1 0.9989884 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.0788683 0.02574901 0.9962921 0.9466797 NA 0.05230866 NA FALSE NA 0.218 0.414 . splice_region_variant&intron_variant LOW CTNNA1 HGNC 2509 ENST00000540387 4/11 1 NA GTA T,C 8.236e-06 5:138904448 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 splice_region_variant 0.420579 0.64721 0.1482 0.062308 0.4629402 0.847922 0.9705543 TRUE 4.0847e-06 ENSE00002368126_024 ENSE00002368126 024 5 138239994 138240163 + 44 93 33 A C 138240138 1314 145 GTTATGCTGTCACCAGTGTCAGTTGGACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904448 138904449 138904449 downstr_intron 8 1.25 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTCCAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 83 1238 0.9756727 0.9798647 0.9777687 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.0565642 0.005613682 0.9962921 0.9466797 NA 0.03108894 NA FALSE NA 0.028 0.499 . splice_region_variant&intron_variant LOW CTNNA1 HGNC 2509 ENST00000540387 4/11 1 NA TAC A,C 8.236e-06 5:138904449 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 splice_region_variant -0.072466 0.25733 0.11519 0.062308 0.6535399 0.0970196 0.9705543 TRUE 4.0941e-06 ENSE00002368126_025 ENSE00002368126 025 5 138239994 138240163 + 44 93 33 A G 138240141 1315 148 GTTATGCTGTCACCAGTGTCAGCTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904451 138904452 138904452 downstr_intron 11 1.34375 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAGCTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 593 587 1 0.9983625 0.9991813 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08089154 0.02411154 0.9962921 0.9466797 NA 0.05250154 NA FALSE NA 0 0.168 . intron_variant MODIFIER CTNNA1 HGNC 2509 ENST00000540387 4/11 1 NA AAC A,G 8.236e-06 5:138904452 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 non_coding_transcript_exon_variant -0.109458 0.19543 0.04905 0.062308 0.4697842 0.14686 0.9705543 TRUE 4.09356e-06 ENSE00002368126_026 ENSE00002368126 026 5 138239994 138240163 + 44 93 33 G A 138240144 1316 151 GTTATGCTGTCACCAGTGTTAGTTGTACTTTACCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACCTATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 138904454 138904455 138904455 downstr_intron 14 1.4375 GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTAACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC mutant NA NA NA NA NA 1157 1199 0.9995724 0.9986879 0.9991302 0.9986612 0.993923 0.9191085 0.974251 NA NA 0.08046393 0.02443694 0.9962921 0.9466797 NA 0.05245043 NA FALSE NA 0 -0.607 . intron_variant MODIFIER CTNNA1 HGNC 2509 ENST00000540387 4/11 1 NA TGA G,A 8.236e-06 5:138904455 CTNNA1 HGNC Symbol protein_coding 324067 ENSG00000044115 ENSE00003613458 non_coding_transcript_exon_variant 0.178969 0.20458 0.0064 0.062308 0.4149018 0.0862586 0.9705543 TRUE 8.29242e-06 ENSE00002368126_BRK ENSE00002368126 BRK 5 138239994 138240163 + 44 93 33 A,G; T,T NA NA NA GTTATGCTGTCACCAGTGTCAGTTGTACTTTGGCTGAGGACAGAGGGCTTCTAACTGGCTTGCAGACATTCGAACAAGCTTTACACCTTCTTCATTATTTGAGATGGAACAGGCCAAGTTGGCAACAAATAAACATAAAAAATAATCTTTAAAGATTTTTCTCTTTTGAC 138904304 138904474 NA NA NA NA NA NA GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATTTGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGCCAAAGTACAACTGACACTGGTGACAGCATAAC GTCAAAAGAGAAAAATCTTTAAAGATTATTTTTTATGTTTATAGGTTGCCAACTTGGCCTGTTCCATCTCAAATAATGAAGAAGGTGTAAAGCTTGTTCGAATGTCTGCAAGCCAGTTAGAAGCCCTCTGTCCTCAGGTAAAGTACAACTGACACTGGTGACAGCATAAC control NA NA NA NA NA 341 80 0 0 0 0.9986612 0.993923 0.9191085 0.974251 NA NA -0.9191085 -0.974251 0.9962921 0.9466797 NA -0.9466797 NA TRUE NA NA NA NA NA NA CTNNA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNNA1 NA NA NA ENSG00000044115 ENSE00003613458 NA NA NA NA NA NA NA 0.9705543 TRUE NA ENSE00002368202_000 ENSE00002368202 000 2 220103385 220103554 - 42 75 53 NA NA NA NA NA TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 NA NA NA NA NA NA TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT natural 20 13 1 1 1 1040 617 0.796966 0.7231294 0.7600477 1 1 0.796966 0.7231294 0 0 0 0 1 0.7600477 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLB1L NA NA NA ENSG00000163521 ENSE00003548547 NA NA NA NA NA NA NA 2.515661e-10 FALSE NA ENSE00002368202_002 ENSE00002368202 002 2 220103385 220103554 - 42 75 53 A G 220103411 4773 144 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACACCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238688 219238689 219238689 downstr_intron 16 1.390244 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACACCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 772 223 0.8087018 0.9751422 0.891922 1 1 0.796966 0.7231294 NA NA 0.0117358 0.2520128 1 0.7600477 NA 0.1318743 NA FALSE NA 0 0.104 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:219238689 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 intron_variant 0.396847 0.24991 0.07168 0.106106 0.7391495 0.048013 2.515661e-10 FALSE 8.13961e-06 ENSE00002368202_003 ENSE00002368202 003 2 220103385 220103554 - 42 75 53 A C 220103411 4774 144 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACAGCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238688 219238689 219238689 downstr_intron 16 1.390244 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACAGCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 36 26 0.9422126 1 0.9711063 1 1 0.796966 0.7231294 NA NA 0.1452466 0.2768706 1 0.7600477 NA 0.2110586 NA FALSE NA 0 0.104 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLB1L NA NA NA ENSG00000163521 ENSE00003548547 intron_variant 0.176541 0.25814 0.08719 0.106106 0.7234192 0.048013 2.515661e-10 FALSE 4.06981e-06 ENSE00002368202_005 ENSE00002368202 005 2 220103385 220103554 - 42 75 53 C T 220103426 4776 129 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGATAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238703 219238704 219238704 downstr_intron 1 1.02439 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGATAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 1339 737 0.001855755 0.005699547 0.003777651 1 1 0.796966 0.7231294 NA NA -0.7951103 -0.7174299 1 0.7600477 NA -0.7562701 NA TRUE NA 1 6.377 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:219238704 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 splice_donor_variant 4.483578 0.96919 0.97524 0.106106 0.9889546 0.976202 2.515661e-10 FALSE 1.21989e-05 ENSE00002368202_006 ENSE00002368202 006 2 220103385 220103554 - 42 75 53 C A 220103426 4777 129 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGTTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238703 219238704 219238704 downstr_intron 1 1.02439 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGTTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 48 1164 0 0 0 1 1 0.796966 0.7231294 NA NA -0.796966 -0.7231294 1 0.7600477 NA -0.7600477 NA TRUE NA 1 6.377 NA NA NA ANKZF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GLB1L NA NA NA ENSG00000163521 ENSE00003548547 splice_donor_variant 4.447428 0.9701 0.97688 0.106106 0.9889716 0.976202 2.515661e-10 FALSE 1.21989e-05 ENSE00002368202_010 ENSE00002368202 010 2 220103385 220103554 - 42 75 53 C T 220103447 4781 108 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTAGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238724 219238725 219238725 exon -21 0.7333333 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTAGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 152 15 0.9477514 1 0.9738757 1 1 0.796966 0.7231294 NA NA 0.1507854 0.2768706 1 0.7600477 NA 0.213828 NA FALSE NA 1 6.549 . downstream_gene_variant MODIFIER ANKZF1 HGNC 25527 ENST00000410034 1 NA CCA C,T 8.236e-06 2:219238725 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 missense_variant 5.801187 0.96919 0.97665 0.660377 0.9956899 0 2.515661e-10 FALSE 4.0619e-06 ENSE00002368202_011 ENSE00002368202 011 2 220103385 220103554 - 42 75 53 T C 220103458 4782 97 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAGGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238735 219238736 219238736 exon -32 0.5866667 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAGGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 18 24 0.8 0.8535238 0.8267619 1 1 0.796966 0.7231294 NA NA 0.003033971 0.1303944 1 0.7600477 NA 0.06671419 NA FALSE NA 1 5.078 . downstream_gene_variant MODIFIER ANKZF1 HGNC 25527 ENST00000410034 1 NA CTT T,C 8.236e-06 2:219238736 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 missense_variant 4.298629 0.96293 0.95815 0.660377 0.9897677 0 2.515661e-10 FALSE 3.65589e-05 ENSE00002368202_014 ENSE00002368202 014 2 220103385 220103554 - 42 75 53 G A 220103470 4785 85 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCTCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238747 219238748 219238748 exon 32 0.4266667 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCTCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 133 131 0.8 0.9724729 0.8862364 1 1 0.796966 0.7231294 NA NA 0.003033971 0.2493435 1 0.7600477 NA 0.1261887 NA FALSE NA 1 5.061 rs137908162 downstream_gene_variant MODIFIER ANKZF1 HGNC 25527 ENST00000410034 rs137908162 1 NA A:0.0002 A:0 GGG G,A 3.295e-05 2:219238748 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 missense_variant 2.355609 0.93728 0.90744 0.660377 0.9477323 0 2.515661e-10 FALSE 1.62596e-05 ENSE00002368202_015 ENSE00002368202 015 2 220103385 220103554 - 42 75 53 C T 220103483 4786 72 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGAGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238760 219238761 219238761 exon 19 0.2533333 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGAGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 47 263 1 0.9958426 0.9979213 1 1 0.796966 0.7231294 NA NA 0.203034 0.2727132 1 0.7600477 NA 0.2378736 NA FALSE NA 1 6.377 . downstream_gene_variant MODIFIER ANKZF1 HGNC 25527 ENST00000410034 rs564988390 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCC C,T 1.647e-05 2:219238761 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 missense_variant 5.782587 0.96645 0.97392 0.6512 0.9767977 0 2.515661e-10 FALSE 8.13511e-06 ENSE00002368202_016 ENSE00002368202 016 2 220103385 220103554 - 42 75 53 A G 220103491 4787 64 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGCTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238768 219238769 219238769 exon 11 0.1466667 TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGCTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 94 142 0.218072 0.1750906 0.1965813 1 1 0.796966 0.7231294 NA NA -0.578894 -0.5480388 1 0.7600477 NA -0.5634664 NA TRUE NA 1 6.499 rs76908853 downstream_gene_variant MODIFIER ANKZF1 HGNC 25527 ENST00000410034 rs76908853&COSM4001512 1 G:0.0016 G:0 G:0 NA G:0.0079 G:0 G:0 AAC A,G 0.001005 2:219238769 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 missense_variant 2.607391 0.95915 0.97544 0.6512 0.9970348 0 2.515661e-10 FALSE 0.000855864 ENSE00002368202_021 ENSE00002368202 021 2 220103385 220103554 - 42 75 53 A T 220103523 4792 32 TAGGTATTGTTTTCTGTGGTTTTCCTATGGAACCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238800 219238801 219238801 upstr_intron -22 -0.3962264 TAGGTATTGTTTTCTGTGGTTTTCCTATGGAACCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 17 202 1 1 1 1 1 0.796966 0.7231294 NA NA 0.203034 0.2768706 1 0.7600477 NA 0.2399523 NA FALSE NA 0.998 2.262 . downstream_gene_variant MODIFIER ANKZF1 HGNC 25527 ENST00000410034 1 NA GAT A,T 8.236e-06 2:219238801 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 intron_variant 2.170671 0.9153 0.7764 0.106106 0.8632012 0.388199 2.515661e-10 FALSE 4.20698e-06 ENSE00002368202_022 ENSE00002368202 022 2 220103385 220103554 - 42 75 53 T C 220103528 4793 27 TAGGTATTGTTTTCTGTGGTTTTCCTGTGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 219238805 219238806 219238806 upstr_intron -27 -0.490566 TAGGTATTGTTTTCTGTGGTTTTCCTGTGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT mutant NA NA NA NA NA 78 62 1 0.9843787 0.9921893 1 1 0.796966 0.7231294 NA NA 0.203034 0.2612493 1 0.7600477 NA 0.2321416 NA FALSE NA 0.785 1.06 . downstream_gene_variant MODIFIER ANKZF1 HGNC 25527 ENST00000410034 1 NA ATA T,C 8.237e-06 2:219238806 GLB1L HGNC Symbol protein_coding 8872 ENSG00000163521 ENSE00003548547 intron_variant 1.856331 0.40374 0.62261 0.106106 0.822221 0.457997 2.515661e-10 FALSE 4.23944e-06 ENSE00002368202_BRK ENSE00002368202 BRK 2 220103385 220103554 - 42 75 53 A,G; T,T NA NA NA TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCTTTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGCCAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT 219238662 219238832 NA NA NA NA NA NA TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCTTTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGCCAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT TAGGTATTGTTTTCTGTGGTTTTCCTATGGATCCTGAGAGAATCTGGGCTCAGTTCCAGGAAGTTCCTTTGGGACCTTTACCTCCCCCGAGCCCCAAGATGATGCTTGGACCTGTGACTCTGCACCTGGTAAGTTCCTCCACATCTTTTCTCTTATACCACACCTTTTTT control NA NA NA NA NA 1151 444 0.04353172 0.1463332 0.09493244 1 1 0.796966 0.7231294 NA NA -0.7534343 -0.5767963 1 0.7600477 NA -0.6651153 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003548547 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00002368364_000 ENSE00002368364 000 3 52539276 52539445 + 59 63 48 NA NA NA NA NA GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 NA NA NA NA NA NA GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG natural 96 138 0.268219 0.4238765 0.3460478 867 189 0.8003716 0.8339081 0.8171399 0.268219 0.4238765 0.8003716 0.8339081 0 0 0 0 0.3460478 0.8171399 0 0 0 FALSE FALSE NA NA NA NA NA STAB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB1 NA NA NA ENSG00000010327 ENSE00003575321 NA NA NA NA NA NA NA 2.797988e-25 FALSE NA ENSE00002368364_011 ENSE00002368364 011 3 52539276 52539445 + 59 63 48 T C 52539342 1704 67 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTACCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 52505325 52505326 52505326 exon 8 0.1269841 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTACCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG mutant NA NA NA NA NA 130 72 0.9072229 1 0.9536114 0.268219 0.4238765 0.8003716 0.8339081 NA NA 0.1068512 0.1660919 0.3460478 0.8171399 NA 0.1364716 NA FALSE NA 0.975 5.144 . missense_variant MODERATE STAB1 HGNC 18628 ENST00000321725 14/69 rs375388688 1 deleterious(0) possibly_damaging(0.461) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 ATC T,C 8.237e-06 3:52505326 STAB1 HGNC Symbol protein_coding 29157 ENSG00000010327 ENSE00003575321 missense_variant 3.491143 0.89701 0.91048 0.67177 0.9684592 0 2.797988e-25 FALSE 2.03302e-05 ENSE00002368364_013 ENSE00002368364 013 3 52539276 52539445 + 59 63 48 C G 52539343 1706 68 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATGGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 52505326 52505327 52505327 exon 9 0.1428571 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATGGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG mutant NA NA NA NA NA 107 50 0.9106806 0.9156378 0.9131592 0.268219 0.4238765 0.8003716 0.8339081 NA NA 0.1103089 0.08172971 0.3460478 0.8171399 NA 0.09601932 NA FALSE NA 0.006 -1.019 NA NA NA STAB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:52505327 STAB1 HGNC Symbol protein_coding 29157 ENSG00000010327 ENSE00003575321 missense_variant 1.701087 0.11375 0.0195 0.67177 0.9583608 0 2.797988e-25 FALSE 4.06613e-06 ENSE00002368364_014 ENSE00002368364 014 3 52539276 52539445 + 59 63 48 G A 52539344 1707 69 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCAGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 52505327 52505328 52505328 exon 10 0.1587302 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCAGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG mutant NA NA NA NA NA 23 100 0 0 0 0.268219 0.4238765 0.8003716 0.8339081 NA NA -0.8003716 -0.8339081 0.3460478 0.8171399 NA -0.8171399 NA TRUE NA 0.02 0.645 . missense_variant MODERATE STAB1 HGNC 18628 ENST00000321725 14/69 rs368213653 1 tolerated(0.08) benign(0.104) NA A:0 A:0.0001 CGG G,A 8.237e-06 3:52505328 STAB1 HGNC Symbol protein_coding 29157 ENSG00000010327 ENSE00003575321 missense_variant 0.593013 0.20446 0.05559 0.67177 0.7478981 0 2.797988e-25 FALSE 2.03308e-05 ENSE00002368364_015 ENSE00002368364 015 3 52539276 52539445 + 59 63 48 C G 52539352 1708 77 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATGCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 52505335 52505336 52505336 exon 18 0.2857143 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATGCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG mutant NA NA NA NA NA 29 191 0.9104595 0.8 0.8552298 0.268219 0.4238765 0.8003716 0.8339081 NA NA 0.1100879 -0.03390811 0.3460478 0.8171399 NA 0.0380899 NA FALSE NA 1 0.536 . missense_variant MODERATE STAB1 HGNC 18628 ENST00000321725 14/69 1 deleterious(0) probably_damaging(0.99) NA TCC C,G 8.238e-06 3:52505336 STAB1 HGNC Symbol protein_coding 29157 ENSG00000010327 ENSE00003575321 missense_variant 3.059037 0.96372 0.83213 0.67177 0.9732361 0 2.797988e-25 FALSE 4.06653e-06 ENSE00002368364_018 ENSE00002368364 018 3 52539276 52539445 + 59 63 48 C T 52539364 1711 89 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACTGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 52505347 52505348 52505348 exon 30 0.4761905 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACTGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG mutant NA NA NA NA NA 12 70 0.95 0.8 0.875 0.268219 0.4238765 0.8003716 0.8339081 NA NA 0.1496284 -0.03390811 0.3460478 0.8171399 NA 0.05786012 NA FALSE NA 0 -3.839 NA NA NA STAB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:52505348 STAB1 HGNC Symbol protein_coding 29157 ENSG00000010327 ENSE00003575321 synonymous_variant 1.309239 0.04964 0.0047 0.67177 0.5479219 0 2.797988e-25 FALSE 2.44103e-05 ENSE00002368364_022 ENSE00002368364 022 3 52539276 52539445 + 59 63 48 C T 52539373 1715 98 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTTAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 52505356 52505357 52505357 exon -25 0.6190476 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTTAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG mutant NA NA NA NA NA 31 100 0.121141 0 0.06057049 0.268219 0.4238765 0.8003716 0.8339081 NA NA -0.6792307 -0.8339081 0.3460478 0.8171399 NA -0.7565694 NA TRUE NA 1 1.905 . synonymous_variant LOW STAB1 HGNC 18628 ENST00000321725 14/69 1 NA TCA C,T 1.648e-05 3:52505357 STAB1 HGNC Symbol protein_coding 29157 ENSG00000010327 ENSE00003575321 synonymous_variant 1.302682 0.97496 0.7977 0.67177 0.8263053 0 2.797988e-25 FALSE 1.22083e-05 ENSE00002368364_027 ENSE00002368364 027 3 52539276 52539445 + 59 63 48 C T 52539405 1720 130 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTTGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 52505388 52505389 52505389 downstr_intron 8 1.170213 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTTGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG mutant NA NA NA NA NA 340 142 0.8 0.8017778 0.8008889 0.268219 0.4238765 0.8003716 0.8339081 NA NA -0.0003716438 -0.03213028 0.3460478 0.8171399 NA -0.01625096 NA FALSE NA 0 -0.866 NA NA NA STAB1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:52505389 STAB1 HGNC Symbol protein_coding 29157 ENSG00000010327 ENSE00003575321 splice_region_variant 0.009198 0.1337 0.00332 0.067858 0.5921132 0.121912 2.797988e-25 FALSE 2.88056e-05 ENSE00002368364_030 ENSE00002368364 030 3 52539276 52539445 + 59 63 48 G C 52539414 1723 139 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGCGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 52505397 52505398 52505398 downstr_intron 17 1.361702 GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGCGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG mutant NA NA NA NA NA 107 71 0.8 0.8 0.8 0.268219 0.4238765 0.8003716 0.8339081 NA NA -0.0003716438 -0.03390811 0.3460478 0.8171399 NA -0.01713988 NA FALSE NA 0 -0.129 . intron_variant MODIFIER STAB1 HGNC 18628 ENST00000321725 14/68 rs552381717 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 GGG G,C 8.243e-06 3:52505398 STAB1 HGNC Symbol protein_coding 29157 ENSG00000010327 ENSE00003575321 intron_variant -0.326293 0.16697 0.03822 0.067858 0.354096 0.062577 2.797988e-25 FALSE 4.15987e-06 ENSE00002368364_BRK ENSE00002368364 BRK 3 52539276 52539445 + 59 63 48 A,G; T,T NA NA NA GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACTTAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGCCAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG 52505259 52505429 NA NA NA NA NA NA GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACTTAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGCCAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG GCTGGGCTGAAGCAGCCTCACCCCTTCCCTGGGGCCCTCACACTCATCCCTCCTTACAGAGAACTATCGGACAGATCCTCGCCTCTACCGAGGCCTTCAGCCGCTTTGAAACCATCCTGGAGGTAAGCTCGGGGGAGGGGTCCTAGCCCATGTGGGCTTCTGGGCTTCTG control 19 11 0 0 0 NA NA NA NA NA 0.268219 0.4238765 0.8003716 0.8339081 -0.268219 -0.4238765 NA NA 0.3460478 0.8171399 -0.3460478 NA NA NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB1 NA NA NA ENSG00000010327 ENSE00003575321 NA NA NA NA NA NA NA 2.797988e-25 FALSE NA ENSE00002368515_000 ENSE00002368515 000 6 34210441 34210610 + 48 84 38 NA NA NA NA NA AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCGGGTCTTGGCAGCACCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCGCTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 NA NA NA NA NA NA GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT natural NA NA NA NA NA 502 270 0.9682512 0.877678 0.9229646 NA NA 0.9682512 0.877678 NA NA 0 0 NA 0.9229646 NA 0 NA FALSE NA NA NA NA NA NA HMGA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HMGA1 NA NA NA ENSG00000137309 ENSE00003664923 NA NA NA NA NA NA NA 0.7242998 FALSE NA ENSE00002368515_001 ENSE00002368515 001 6 34210441 34210610 + 48 84 38 G A 34210466 1012 26 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCGGGTCTTGGCAGCACCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCGCTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTTAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242688 34242689 34242689 upstr_intron -23 -0.4583333 GTGGAAACAGGTGATGACTGTCCCTAACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 347 283 0.9772035 1 0.9886018 NA NA 0.9682512 0.877678 NA NA 0.008952331 0.122322 NA 0.9229646 NA 0.06563715 NA FALSE NA 0.002 0.293 . intron_variant MODIFIER HMGA1 HGNC 5010 ENST00000347617 2/4 1 NA TGA G,A 1.726e-05 6:34242689 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 intron_variant 0.674914 0.24514 0.26965 0.298561 0.8192657 0.0660636 0.7242998 FALSE 1.25456e-05 ENSE00002368515_003 ENSE00002368515 003 6 34210441 34210610 + 48 84 38 G A 34210494 1014 54 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCGGGTCTTGGCAGCACCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCGCTGGGTTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242716 34242717 34242717 exon 6 0.07142857 GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAACCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 259 140 1 0.9873661 0.993683 NA NA 0.9682512 0.877678 NA NA 0.03174883 0.1096881 NA 0.9229646 NA 0.07071845 NA FALSE NA 0.993 -0.019 . synonymous_variant LOW HMGA1 HGNC 5010 ENST00000347617 3/5 rs376384383 1 NA A:0.0005 A:0 AGC G,A 2.488e-05 6:34242717 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 synonymous_variant 0.988559 0.84098 0.52618 0.730579 0.8527056 0 0.7242998 FALSE NA ENSE00002368515_004 ENSE00002368515 004 6 34210441 34210610 + 48 84 38 C T 34210500 1015 60 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCGGGTCTTGGCAGCACCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCACTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242722 34242723 34242723 exon 12 0.1428571 GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGTGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 32 355 0.9987068 0.9994622 0.9990845 NA NA 0.9682512 0.877678 NA NA 0.03045564 0.1217842 NA 0.9229646 NA 0.0761199 NA FALSE NA 0.021 -1.779 rs147348343 synonymous_variant LOW HMGA1 HGNC 5010 ENST00000347617 3/5 rs147348343 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCG C,T 2.485e-05 6:34242723 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 synonymous_variant 2.35747 0.52039 0.044 0.730579 0.8721216 0 0.7242998 FALSE 4.52971e-05 ENSE00002368515_006 ENSE00002368515 006 6 34210441 34210610 + 48 84 38 G C 34210506 1017 66 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCGGGTCTTGGCAGCACCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGGACTTCGCTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242728 34242729 34242729 exon 18 0.2142857 GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTCCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 482 1345 0.9948967 0.862891 0.9288938 NA NA 0.9682512 0.877678 NA NA 0.02664548 -0.01478705 NA 0.9229646 NA 0.005929218 NA FALSE NA 1 1.413 . synonymous_variant LOW HMGA1 HGNC 5010 ENST00000347617 3/5 1 NA TGC G,C 8.275e-06 6:34242729 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 synonymous_variant 0.666315 0.90068 0.71767 0.730579 0.8109246 0 0.7242998 FALSE NA ENSE00002368515_008 ENSE00002368515 008 6 34210441 34210610 + 48 84 38 C T 34210545 1019 105 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCGGGTCTTGGCAGCACCCTTGTTTTTACTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCGCTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242767 34242768 34242768 exon -28 0.6785714 GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGTAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 23 63 1 1 1 NA NA 0.9682512 0.877678 NA NA 0.03174883 0.122322 NA 0.9229646 NA 0.0770354 NA FALSE NA 1 3.121 rs138799563 synonymous_variant LOW HMGA1 HGNC 5010 ENST00000347617 3/5 rs138799563 1 NA T:0.0002 T:0 GCA C,T 8.264e-06 6:34242768 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 synonymous_variant 1.596176 0.91813 0.78788 0.730579 0.910996 0 0.7242998 FALSE 4.741e-06 ENSE00002368515_009 ENSE00002368515 009 6 34210441 34210610 + 48 84 38 G A 34210556 1020 116 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCGGGTCTTGGCAGCATCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCGCTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242778 34242779 34242779 exon -17 0.8095238 GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGATGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 109 62 1 1 1 NA NA 0.9682512 0.877678 NA NA 0.03174883 0.122322 NA 0.9229646 NA 0.0770354 NA FALSE NA 0.998 3.779 . missense_variant MODERATE HMGA1 HGNC 5010 ENST00000347617 3/5 1 tolerated(0.11) unknown(0) NA GGT G,A 8.278e-06 6:34242779 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 missense_variant 4.736395 0.91865 0.78525 0.730579 0.9944552 0 0.7242998 FALSE NA ENSE00002368515_010 ENSE00002368515 010 6 34210441 34210610 + 48 84 38 G T 34210566 1021 126 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCGGGTATTGGCAGCACCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCGCTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242788 34242789 34242789 exon -7 0.9285714 GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAATACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 24 331 0.9446034 1 0.9723017 NA NA 0.9682512 0.877678 NA NA -0.02364781 0.122322 NA 0.9229646 NA 0.04933708 NA FALSE NA 1 2.296 . missense_variant MODERATE HMGA1 HGNC 5010 ENST00000347617 3/5 1 deleterious(0.03) unknown(0) NA AGA G,T 8.295e-06 6:34242789 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 missense_variant 4.76479 0.89799 0.76558 0.730579 0.9955448 0 0.7242998 FALSE NA ENSE00002368515_011 ENSE00002368515 011 6 34210441 34210610 + 48 84 38 C T 34210570 1022 130 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTCACCCAGGTCTTGGCAGCACCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCGCTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242792 34242793 34242793 exon -3 0.9761905 GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCTGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 383 1409 0.974154 0.9995938 0.9868739 NA NA 0.9682512 0.877678 NA NA 0.005902816 0.1219158 NA 0.9229646 NA 0.0639093 NA FALSE NA 1 1.492 . missense_variant&splice_region_variant MODERATE HMGA1 HGNC 5010 ENST00000347617 3/5 1 deleterious(0.05) unknown(0) NA CCG C,T 1.66e-05 6:34242793 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 missense_variant 6.067557 0.91373 0.75863 0.730579 0.9966273 0 0.7242998 FALSE NA ENSE00002368515_012 ENSE00002368515 012 6 34210441 34210610 + 48 84 38 G A 34210575 1023 135 AGTCATCCACCCAGGGGTAGTCCCATCTCAAGTCTTACCCGGGTCTTGGCAGCACCCTTGTTTTTGCTTCCCTTTGGTCGGCCCCGAGGTCTCTTAGGTGTTGGCACTTCGCTGGGCTCCTTCTGTAAAGACAGAGGGGGTAGTCAGGGACAGTCATCACCTGTTTCCAC 34242663 34242833 34242797 34242798 34242798 downstr_intron 3 1.081081 GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTAAGACTTGAGATGGGACTACCCCTGGGTGGATGACT GTGGAAACAGGTGATGACTGTCCCTGACTACCCCCTCTGTCTTTACAGAAGGAGCCCAGCGAAGTGCCAACACCTAAGAGACCTCGGGGCCGACCAAAGGGAAGCAAAAACAAGGGTGCTGCCAAGACCCGGGTGAGACTTGAGATGGGACTACCCCTGGGTGGATGACT mutant NA NA NA NA NA 285 38 1 1 1 NA NA 0.9682512 0.877678 NA NA 0.03174883 0.122322 NA 0.9229646 NA 0.0770354 NA FALSE NA 1 0.549 . splice_region_variant&intron_variant LOW HMGA1 HGNC 5010 ENST00000347617 3/4 1 NA TGA G,A 1.664e-05 6:34242798 HMGA1 HGNC Symbol protein_coding 9358 ENSG00000137309 ENSE00003664923 splice_region_variant 1.727211 0.86006 0.54827 0.121938 0.8531569 0.385828 0.7242998 FALSE 1.0634e-05 ENSE00002368581_000 ENSE00002368581 000 2 231949691 231949860 + 42 96 32 NA NA NA NA NA TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 NA NA NA NA NA NA TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT natural NA NA NA NA NA 2180 375 0.8832463 0.9943132 0.9387798 NA NA 0.8832463 0.9943132 NA NA 0 0 NA 0.9387798 NA 0 NA FALSE NA NA NA NA NA NA PSMD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD1 NA NA NA ENSG00000173692 ENSE00003555155 NA NA NA NA NA NA NA 0.9999992 TRUE NA ENSE00002368581_004 ENSE00002368581 004 2 231949691 231949860 + 42 96 32 C T 231949735 5230 45 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGATCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085020 231085021 231085021 exon 3 0.03125 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGATCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 521 31 0.8459531 1 0.9229766 NA NA 0.8832463 0.9943132 NA NA -0.03729319 0.005686757 NA 0.9387798 NA -0.01580322 NA FALSE NA 1 1.04 . splice_region_variant&synonymous_variant LOW PSMD1 HGNC 9554 ENST00000409643 15/23 rs566649634 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 ACC C,T 1.647e-05 2:231085021 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 splice_region_variant 1.315068 0.97823 0.83269 0.719381 0.7321311 0 0.9999992 TRUE 8.13286e-06 ENSE00002368581_005 ENSE00002368581 005 2 231949691 231949860 + 42 96 32 A G 231949739 5231 49 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAGTTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085024 231085025 231085025 exon 7 0.07291667 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAGTTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 104 667 1 0.9120352 0.9560176 NA NA 0.8832463 0.9943132 NA NA 0.1167537 -0.08227805 NA 0.9387798 NA 0.01723781 NA FALSE NA 1 9.343 . missense_variant MODERATE PSMD1 HGNC 9554 ENST00000409643 15/23 1 tolerated(0.16) probably_damaging(0.949) NA AAT A,G 2.471e-05 2:231085025 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 missense_variant 2.420101 0.99586 0.99512 0.719381 0.99396 0 0.9999992 TRUE 2.43916e-05 ENSE00002368581_006 ENSE00002368581 006 2 231949691 231949860 + 42 96 32 T C 231949741 5232 51 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATCCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085026 231085027 231085027 exon 9 0.09375 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATCCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 93 114 0.9964052 1 0.9982026 NA NA 0.8832463 0.9943132 NA NA 0.1131589 0.005686757 NA 0.9387798 NA 0.05942282 NA FALSE NA 1 1.266 rs145132698 synonymous_variant LOW PSMD1 HGNC 9554 ENST00000409643 15/23 rs145132698 1 NA C:0 C:0.0003 TTC T,C 0.0001483 2:231085027 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 synonymous_variant 0.728236 0.9846 0.87253 0.719381 0.7158287 0 0.9999992 TRUE 0.000154474 ENSE00002368581_008 ENSE00002368581 008 2 231949691 231949860 + 42 96 32 C G 231949752 5234 62 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTGTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085037 231085038 231085038 exon 20 0.2083333 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTGTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 235 46 0.9982355 0.9466151 0.9724253 NA NA 0.8832463 0.9943132 NA NA 0.1149892 -0.04769817 NA 0.9387798 NA 0.03364551 NA FALSE NA 1 7.82 . missense_variant MODERATE PSMD1 HGNC 9554 ENST00000409643 15/23 1 tolerated(0.08) probably_damaging(0.997) NA TCT C,G 1.647e-05 2:231085038 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 missense_variant 3.177557 0.99701 0.99445 0.719381 0.9850601 0 0.9999992 TRUE 8.12797e-06 ENSE00002368581_009 ENSE00002368581 009 2 231949691 231949860 + 42 96 32 T A 231949753 5235 63 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCAGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085038 231085039 231085039 exon 21 0.21875 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCAGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 17 61 1 1 1 NA NA 0.8832463 0.9943132 NA NA 0.1167537 0.005686757 NA 0.9387798 NA 0.06122021 NA FALSE NA 0.994 0.262 . synonymous_variant LOW PSMD1 HGNC 9554 ENST00000409643 15/23 rs533569965 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CTG T,A 8.236e-06 2:231085039 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 synonymous_variant 0.753655 0.97914 0.88344 0.719381 0.6010532 0 0.9999992 TRUE 4.06405e-06 ENSE00002368581_011 ENSE00002368581 011 2 231949691 231949860 + 42 96 32 C T 231949764 5237 74 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATATTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085049 231085050 231085050 exon 32 0.3333333 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATATTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 51 843 1 1 1 NA NA 0.8832463 0.9943132 NA NA 0.1167537 0.005686757 NA 0.9387798 NA 0.06122021 NA FALSE NA 1 7.82 . missense_variant MODERATE PSMD1 HGNC 9554 ENST00000409643 15/23 1 deleterious(0) probably_damaging(0.996) NA ACT C,T 1.647e-05 2:231085050 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 missense_variant 4.734809 0.99434 0.98928 0.719381 0.9981587 0 0.9999992 TRUE 8.12645e-06 ENSE00002368581_014 ENSE00002368581 014 2 231949691 231949860 + 42 96 32 C T 231949795 5240 105 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAATAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085080 231085081 231085081 exon -34 0.65625 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAATAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 153 25 1 1 1 NA NA 0.8832463 0.9943132 NA NA 0.1167537 0.005686757 NA 0.9387798 NA 0.06122021 NA FALSE NA 1 4.946 . synonymous_variant LOW PSMD1 HGNC 9554 ENST00000409643 15/23 1 NA ACA C,T 8.236e-06 2:231085081 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 synonymous_variant 1.889996 0.99167 0.97855 0.719381 0.7703646 0 0.9999992 TRUE 4.06237e-06 ENSE00002368581_016 ENSE00002368581 016 2 231949691 231949860 + 42 96 32 C T 231949811 5242 121 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGATGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085096 231085097 231085097 exon -18 0.8229167 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGATGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 148 92 1 1 1 NA NA 0.8832463 0.9943132 NA NA 0.1167537 0.005686757 NA 0.9387798 NA 0.06122021 NA FALSE NA 1 7.82 . missense_variant MODERATE PSMD1 HGNC 9554 ENST00000409643 15/23 rs558113586 1 deleterious(0) probably_damaging(0.997) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 1.647e-05 2:231085097 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 missense_variant 8.833973 0.99681 0.99291 0.719381 0.9994205 0 0.9999992 TRUE 2.43748e-05 ENSE00002368581_019 ENSE00002368581 019 2 231949691 231949860 + 42 96 32 C G 231949838 5245 148 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTGTGACCTTTCTTGGGAATGGGGT 231084976 231085146 231085123 231085124 231085124 downstr_intron 10 1.322581 TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTGTGACCTTTCTTGGGAATGGGGT TTTGAAATAAGTTGATGATTAATGTTAAATTATTTTTCTTAGGACCCAATTCTTCGAAGGTCTGGAATGTATACTGTAGCCATGGCTTATTGTGGCTCTGGTAACAACAAAGCAATTCGACGCCTGCTACATGTTGCTGTAAGTACTCTGACCTTTCTTGGGAATGGGGT mutant NA NA NA NA NA 1012 99 0.9958789 1 0.9979395 NA NA 0.8832463 0.9943132 NA NA 0.1126326 0.005686757 NA 0.9387798 NA 0.05915967 NA FALSE NA 0 -0.178 . intron_variant MODIFIER PSMD1 HGNC 9554 ENST00000409643 15/22 1 NA TCT C,G 8.237e-06 2:231085124 PSMD1 HGNC Symbol protein_coding 115963 ENSG00000173692 ENSE00003555155 intron_variant 2.008508 0.25887 0.03607 0.099367 0.7229245 0.30585 0.9999992 TRUE 4.06372e-06 ENSE00002368981_000 ENSE00002368981 000 2 238261936 238262105 - 48 63 59 NA NA NA NA NA AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 NA NA NA NA NA NA AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC natural 2050 2459 0.8526596 0.8495482 0.8511039 4036 1928 0.8287558 0.8971723 0.862964 0.8526596 0.8495482 0.8287558 0.8971723 0 0 0 0 0.8511039 0.862964 0 0 0 FALSE FALSE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003462722 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002368981_001 ENSE00002368981 001 2 238261936 238262105 - 48 63 59 C T 238261967 5665 139 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTATGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353323 237353324 237353324 downstr_intron 17 1.361702 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTATGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 801 452 0.7973404 0.8005592 0.7989498 0.8526596 0.8495482 0.8287558 0.8971723 NA NA -0.03141545 -0.09661304 0.8511039 0.862964 NA -0.06401425 NA FALSE NA 0 -2.433 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 24/42 1 NA ACA C,T 8.236e-06 2:237353324 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 intron_variant 0.168475 0.19471 0.05469 0.055982 0.3410199 0.0491814 7.793308e-11 FALSE 4.06471e-06 ENSE00002368981_002 ENSE00002368981 002 2 238261936 238262105 - 48 63 59 C T 238261971 5666 135 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCATGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353327 237353328 237353328 downstr_intron 13 1.276596 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCATGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 635 708 0.8110095 0.8055139 0.8082617 0.8526596 0.8495482 0.8287558 0.8971723 NA NA -0.01774632 -0.09165837 0.8511039 0.862964 NA -0.05470234 NA FALSE NA 0 -1.476 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 24/42 rs200027587 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0.0002 ACG C,T 4.942e-05 2:237353328 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 intron_variant -0.128828 0.18488 0.05223 0.055982 0.4719388 0.0491814 7.793308e-11 FALSE 7.31571e-05 ENSE00002368981_003 ENSE00002368981 003 2 238261936 238262105 - 48 63 59 T C 238261985 5667 121 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACGGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353341 237353342 237353342 exon -2 0.984127 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACGGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 294 1406 0.1131804 0 0.05659022 0.8526596 0.8495482 0.8287558 0.8971723 NA NA -0.7155754 -0.8971723 0.8511039 0.862964 NA -0.8063738 NA TRUE NA 1 2.279 NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237353342 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 missense_variant 1.607084 0.92389 0.732 0.580535 0.8317818 0 7.793308e-11 FALSE 4.06273e-06 ENSE00002368981_006 ENSE00002368981 006 2 238261936 238262105 - 48 63 59 G A 238261997 5670 109 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGATCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353353 237353354 237353354 exon -14 0.7936508 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGATCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 677 139 0.5439914 0.4997289 0.5218601 0.8526596 0.8495482 0.8287558 0.8971723 NA NA -0.2847644 -0.3974434 0.8511039 0.862964 NA -0.3411039 NA FALSE NA 0.053 1.765 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 24/43 rs376621780 1 possibly_damaging(0.692) NA A:0 A:0.0001 GGT G,A 8.236e-06 2:237353354 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 missense_variant 2.549079 0.34744 0.13614 0.646311 0.9588859 0 7.793308e-11 FALSE 8.12381e-06 ENSE00002368981_007 ENSE00002368981 007 2 238261936 238262105 - 48 63 59 C A 238261999 5671 107 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGTACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353355 237353356 237353356 exon -16 0.7619048 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGTACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 413 61 0.09206134 0.02835675 0.06020905 0.8526596 0.8495482 0.8287558 0.8971723 NA NA -0.7366945 -0.8688155 0.8511039 0.862964 NA -0.802755 NA TRUE NA 0.001 -1.154 NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237353356 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 synonymous_variant 1.732969 0.17553 0.04915 0.646311 0.6990906 0 7.793308e-11 FALSE 3.24955e-05 ENSE00002368981_009 ENSE00002368981 009 2 238261936 238262105 - 48 63 59 C T 238262000 5673 106 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGAGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353356 237353357 237353357 exon -17 0.7460317 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGAGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 503 1081 0.9775444 0.9731862 0.9753653 0.8526596 0.8495482 0.8287558 0.8971723 NA NA 0.1487886 0.07601394 0.8511039 0.862964 NA 0.1124013 NA FALSE NA 1 5.39 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 24/43 1 probably_damaging(0.998) NA CCC C,T 8.236e-06 2:237353357 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 missense_variant 3.62427 0.96331 0.93537 0.646311 0.9480141 0 7.793308e-11 FALSE 4.062e-06 ENSE00002368981_010 ENSE00002368981 010 2 238261936 238262105 - 48 63 59 T G 238262003 5674 103 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCCGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353359 237353360 237353360 exon -20 0.6984127 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCCGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 172 196 1 0.9989966 0.9994983 0.8526596 0.8495482 0.8287558 0.8971723 NA NA 0.1712442 0.1018244 0.8511039 0.862964 NA 0.1365343 NA FALSE NA 1 1.658 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 24/43 1 benign(0.069) NA CTG T,G 8.236e-06 2:237353360 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 missense_variant 2.377801 0.90775 0.68466 0.653281 0.9263787 0 7.793308e-11 FALSE 4.0618e-06 ENSE00002368981_011 ENSE00002368981 011 2 238261936 238262105 - 48 63 59 C A 238262005 5675 101 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGATCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353361 237353362 237353362 exon -22 0.6666667 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGATCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 307 381 0.8460543 0.8324823 0.8392683 0.8526596 0.8495482 0.8287558 0.8971723 NA NA 0.01729851 -0.06468993 0.8511039 0.862964 NA -0.02369571 NA FALSE NA 0.997 0.329 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 24/43 1 probably_damaging(0.935) NA GCT C,A 8.236e-06 2:237353362 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 missense_variant 2.553303 0.91194 0.72451 0.653281 0.9455301 0 7.793308e-11 FALSE 4.06177e-06 ENSE00002368981_012 ENSE00002368981 012 2 238261936 238262105 - 48 63 59 C T 238262020 5676 86 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCAGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353376 237353377 237353377 exon 27 0.4285714 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCAGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 416 102 0.2345553 0.2062395 0.2203974 0.8526596 0.8495482 0.8287558 0.8971723 NA NA -0.5942005 -0.6909328 0.8511039 0.862964 NA -0.6425666 NA TRUE NA 0 -3.422 rs147537071 synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 24/43 rs147537071 1 NA T:0.0002 T:0.0006 CCG C,T 0.0002965 2:237353377 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 synonymous_variant 1.110285 0.15117 0.02673 0.653281 0.3432982 0 7.793308e-11 FALSE 0.000312761 ENSE00002368981_013 ENSE00002368981 013 2 238261936 238262105 - 48 63 59 G A 238262021 5677 85 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCTGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353377 237353378 237353378 exon 26 0.4126984 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCTGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 346 851 0.8645519 0.8003393 0.8324456 0.8526596 0.8495482 0.8287558 0.8971723 NA NA 0.03579605 -0.09683293 0.8511039 0.862964 NA -0.03051844 NA FALSE NA 0 0.21 rs36117715 missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 24/43 rs36117715 1 benign(0.147) A:0.0741 A:0.2126 A:0.036 NA A:0.005 A:0.0388 A:0.0215 A:0.1727 A:0.0371 CGG G,A 0.045 2:237353378 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 missense_variant 0.643199 0.2541 0.16193 0.653281 0.3937804 0 7.793308e-11 FALSE 0.0414876 ENSE00002368981_014 ENSE00002368981 014 2 238261936 238262105 - 48 63 59 G A 238262022 5678 84 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGTCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353378 237353379 237353379 exon 25 0.3968254 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGTCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 1806 65 0.9398002 0.8714731 0.9056367 0.8526596 0.8495482 0.8287558 0.8971723 NA NA 0.1110444 -0.02569917 0.8511039 0.862964 NA 0.04267261 NA FALSE NA 0 -0.259 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 24/43 1 possibly_damaging(0.599) NA GGC G,A 8.236e-06 2:237353379 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 missense_variant 0.259545 0.27508 0.17043 0.653281 0.8103291 0 7.793308e-11 FALSE 4.06184e-06 ENSE00002368981_015 ENSE00002368981 015 2 238261936 238262105 - 48 63 59 C T 238262034 5679 72 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCAGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353390 237353391 237353391 exon 13 0.2063492 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCAGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 2840 511 0.7350994 0.8 0.7675497 0.8526596 0.8495482 0.8287558 0.8971723 NA NA -0.09365643 -0.09717228 0.8511039 0.862964 NA -0.09541435 NA FALSE NA 0 -0.444 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 24/43 1 possibly_damaging(0.493) NA CCG C,T 4.118e-05 2:237353391 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 missense_variant 1.015041 0.21209 0.0706 0.653281 0.417093 0 7.793308e-11 FALSE 3.65577e-05 ENSE00002368981_019 ENSE00002368981 019 2 238261936 238262105 - 48 63 59 G T 238262066 5683 40 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGAATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353422 237353423 237353423 upstr_intron -20 -0.3220339 AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGAATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 578 389 0.8005574 0.8003712 0.8004643 0.8526596 0.8495482 0.8287558 0.8971723 NA NA -0.02819839 -0.09680108 0.8511039 0.862964 NA -0.06249974 NA FALSE NA 0 0.009 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 23/42 rs370705945 1 NA T:0 T:0.0001 TGC G,T 8.236e-06 2:237353423 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 intron_variant -0.679131 0.2061 0.11702 0.087844 0.4937214 0.12438 7.793308e-11 FALSE 4.06928e-06 ENSE00002368981_020 ENSE00002368981 020 2 238261936 238262105 - 48 63 59 G A 238262071 5684 35 AGAGCTGACATTGACAGGAACCATCCTGACTCCTTCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353427 237353428 237353428 upstr_intron -25 -0.4067797 AGAGCTGACATTGACAGGAACCATCCTGACTCCTTCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 1392 209 0.872273 0.9123302 0.8923016 0.8526596 0.8495482 0.8287558 0.8971723 NA NA 0.04351715 0.01515797 0.8511039 0.862964 NA 0.02933756 NA FALSE NA 0 0.503 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 23/42 1 NA GGA G,A 2.471e-05 2:237353428 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 intron_variant 0.420885 0.26571 0.14907 0.087844 0.848104 0.166509 7.793308e-11 FALSE 2.44379e-05 ENSE00002368981_021 ENSE00002368981 021 2 238261936 238262105 - 48 63 59 A G 238262075 5685 31 AGAGCTGACATTGACAGGAACCATCCTGACCCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353431 237353432 237353432 upstr_intron -29 -0.4745763 AGAGCTGACATTGACAGGAACCATCCTGACCCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 72 312 0.9463376 0.807883 0.8771103 0.8526596 0.8495482 0.8287558 0.8971723 NA NA 0.1175818 -0.0892893 0.8511039 0.862964 NA 0.01414626 NA FALSE NA 0 -1.23 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 23/42 1 NA GAG A,G 8.236e-06 2:237353432 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 intron_variant 0.277713 0.18617 0.01412 0.087844 0.6232499 0.166509 7.793308e-11 FALSE 4.07471e-06 ENSE00002368981_023 ENSE00002368981 023 2 238261936 238262105 - 48 63 59 C G 238262093 5687 13 AGAGCTGACATTCACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 237353449 237353450 237353450 upstr_intron -47 -0.779661 AGAGCTGACATTCACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC mutant NA NA NA NA NA 112 1230 0.8725236 0.8808246 0.8766741 0.8526596 0.8495482 0.8287558 0.8971723 NA NA 0.04376776 -0.01634763 0.8511039 0.862964 NA 0.01371006 NA FALSE NA 0 -0.267 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 23/42 rs398124130 1 NA TCA C,G 8.236e-06 2:237353450 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003462722 intron_variant 0.169474 0.20418 0.08993 0.087844 0.6123476 0.236334 7.793308e-11 FALSE 8.22896e-06 ENSE00002368981_BRK ENSE00002368981 BRK 2 238261936 238262105 - 48 63 59 A,G; T,T NA NA NA AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAATTGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGCCGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC 237353292 237353462 NA NA NA NA NA NA AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAATTGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGCCGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC AGAGCTGACATTGACAGGAACCATCCTGACTCCTCCCTGCATCTTCTCTTATTTCAAAGGGCAACAAGGGCGGTCCTGGCCAGCCGGGCTTTGAGGGAGAGCAGGGGACCAGAGGTGCACAGGTGAGTGCTTCCGTGTGTGACTGTGTGCCCTCTGATATTTCACAAATC control 54 49 0.07105536 0 0.03552768 699 155 0 0 0 0.8526596 0.8495482 0.8287558 0.8971723 -0.7816042 -0.8495482 -0.8287558 -0.8971723 0.8511039 0.862964 -0.8155762 -0.862964 0.04738784 TRUE TRUE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003462722 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002369069_000 ENSE00002369069 000 5 76607759 76607928 + 60 60 50 NA NA NA NA NA GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 NA NA NA NA NA NA GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT natural 233 248 0.9962005 0.9964786 0.9963395 9941 7412 0.801046 0.9433938 0.8722199 0.9962005 0.9964786 0.801046 0.9433938 0 0 0 0 0.9963395 0.8722199 0 0 0 FALSE FALSE NA NA NA NA NA PDE8B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE8B NA NA NA ENSG00000113231 ENSE00003523631 NA NA NA NA NA NA NA 0.9868623 TRUE NA ENSE00002369069_001 ENSE00002369069 001 5 76607759 76607928 + 60 60 50 G C 76607773 735 15 GGATGTATCCATTTCTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77311947 77311948 77311948 upstr_intron -46 -0.75 GGATGTATCCATTTCTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 374 1187 0.9883103 0.9792691 0.9837897 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1872644 0.03587529 0.9963395 0.8722199 NA 0.1115698 NA FALSE NA 0 -2.105 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 2/5 1 NA TGT G,C 8.236e-06 5:77311948 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant -0.082201 0.12894 0.01573 0.053691 0.7481095 0.0456202 0.9868623 TRUE 4.06329e-06 ENSE00002369069_002 ENSE00002369069 002 5 76607759 76607928 + 60 60 50 G T 76607784 736 26 GGATGTATCCATTTGTGTAGTTTAATACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77311958 77311959 77311959 upstr_intron -35 -0.5666667 GGATGTATCCATTTGTGTAGTTTAATACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 2258 2091 0.9632463 0.995541 0.9793936 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1622003 0.05214715 0.9963395 0.8722199 NA 0.1071737 NA FALSE NA 0.001 0.449 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 2/5 1 NA AGA G,T 5.765e-05 5:77311959 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant 1.286032 0.36532 0.08596 0.053691 0.8189718 0.922906 0.9868623 TRUE 5.68796e-05 ENSE00002369069_003 ENSE00002369069 003 5 76607759 76607928 + 60 60 50 C T 76607786 737 28 GGATGTATCCATTTGTGTAGTTTAAGATTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77311960 77311961 77311961 upstr_intron -33 -0.5333333 GGATGTATCCATTTGTGTAGTTTAAGATTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 170 617 1 0.9963404 0.9981702 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.198954 0.05294653 0.9963395 0.8722199 NA 0.1259503 NA FALSE NA 0 0.913 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 2/5 1 NA ACT C,T 8.236e-06 5:77311961 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant 1.327471 0.19419 0.07695 0.053691 0.8743016 0.0851627 0.9868623 TRUE 4.06299e-06 ENSE00002369069_004 ENSE00002369069 004 5 76607759 76607928 + 60 60 50 C T 76607791 738 33 GGATGTATCCATTTGTGTAGTTTAAGACTTGATGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77311965 77311966 77311966 upstr_intron -28 -0.45 GGATGTATCCATTTGTGTAGTTTAAGACTTGATGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 858 1646 0.9921807 0.9983149 0.9952478 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1911348 0.05492102 0.9963395 0.8722199 NA 0.1230279 NA FALSE NA 0.001 0.512 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 2/5 1 NA ACG C,T 8.236e-06 5:77311966 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant 0.718923 0.21355 0.06881 0.053691 0.9175367 0.134512 0.9868623 TRUE 1.62524e-05 ENSE00002369069_005 ENSE00002369069 005 5 76607759 76607928 + 60 60 50 G A 76607792 739 34 GGATGTATCCATTTGTGTAGTTTAAGACTTGACACTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77311966 77311967 77311967 upstr_intron -27 -0.4333333 GGATGTATCCATTTGTGTAGTTTAAGACTTGACACTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 2237 319 0.9970873 0.9933173 0.9952023 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1960413 0.0499235 0.9963395 0.8722199 NA 0.1229824 NA FALSE NA 0 -0.501 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 2/5 rs372458437 1 NA A:0 A:0.0002 CGC A,A 4.118e-05 5:77311967 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant 0.294572 0.11007 0.00144 0.053691 0.9147336 0.0843546 0.9868623 TRUE 5.28198e-05 ENSE00002369069_006 ENSE00002369069 006 5 76607759 76607928 + 60 60 50 C T 76607798 740 40 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTTTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77311972 77311973 77311973 upstr_intron -21 -0.3333333 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTTTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 371 990 0.9960345 0.9981217 0.9970781 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1949886 0.05472787 0.9963395 0.8722199 NA 0.1248582 NA FALSE NA 0.707 0.309 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 2/5 1 NA TCT C,T 1.647e-05 5:77311973 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant 1.085742 0.22962 0.15924 0.053691 0.8929448 0.227077 0.9868623 TRUE 8.12427e-06 ENSE00002369069_007 ENSE00002369069 007 5 76607759 76607928 + 60 60 50 G A 76607801 741 43 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTATGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77311975 77311976 77311976 upstr_intron -18 -0.2833333 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTATGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 1142 1530 1 0.991322 0.995661 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.198954 0.04792819 0.9963395 0.8722199 NA 0.1234411 NA FALSE NA 0 -1.373 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 2/5 rs562438831 1 NA TGT G,A 8.236e-06 5:77311976 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant 0.860939 0.16443 0.02645 0.053691 0.7488046 0.37926 0.9868623 TRUE 1.62491e-05 ENSE00002369069_008 ENSE00002369069 008 5 76607759 76607928 + 60 60 50 G A 76607833 742 75 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCAGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312007 77312008 77312008 exon 15 0.25 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCAGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 1513 1788 0.9503269 0.9829591 0.966643 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1492809 0.03956523 0.9963395 0.8722199 NA 0.09442308 NA FALSE NA 0.035 -1.193 . 5_prime_UTR_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/6 1 NA CGG G,A 2.471e-05 5:77312008 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 synonymous_variant 1.828762 0.13161 0.01491 0.487112 0.6911556 0 0.9868623 TRUE 2.43681e-05 ENSE00002369069_009 ENSE00002369069 009 5 76607759 76607928 + 60 60 50 T C 76607838 743 80 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGCGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312012 77312013 77312013 exon 20 0.3333333 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGCGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 243 305 0.9917583 0.9996248 0.9956915 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1907123 0.05623095 0.9963395 0.8722199 NA 0.1234716 NA FALSE NA 0.994 2.611 . 5_prime_UTR_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/6 1 NA GTG T,C 8.236e-06 5:77312013 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 missense_variant 2.514243 0.96681 0.76939 0.487112 0.9948945 0 0.9868623 TRUE 4.06111e-06 ENSE00002369069_010 ENSE00002369069 010 5 76607759 76607928 + 60 60 50 C T 76607840 744 82 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGTGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312014 77312015 77312015 exon 22 0.3666667 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGTGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 1240 664 0.9961352 0.9994165 0.9977759 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1950893 0.05602265 0.9963395 0.8722199 NA 0.125556 NA FALSE NA 0.987 4.123 . 5_prime_UTR_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/6 rs576161372 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 GCG C,T 0.000173 5:77312015 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 missense_variant 4.086284 0.97205 0.84561 0.487112 0.9972233 0 0.9868623 TRUE 0.000158382 ENSE00002369069_011 ENSE00002369069 011 5 76607759 76607928 + 60 60 50 G A 76607841 745 83 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCACATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312015 77312016 77312016 exon 23 0.3833333 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCACATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 2757 1451 0.9956167 0.9966107 0.9961137 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1945707 0.05321684 0.9963395 0.8722199 NA 0.1238938 NA FALSE NA 1 2.414 rs115599001 5_prime_UTR_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/6 rs115599001 1 A:0.0034 A:0.0008 A:0.0029 NA A:0 A:0.0139 A:0 A:0.0032 A:0.0141 CGC G,A 0.009431 5:77312016 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 missense_variant 3.234589 0.97369 0.7535 0.487112 0.9986964 0 0.9868623 TRUE 0.00892625 ENSE00002369069_012 ENSE00002369069 012 5 76607759 76607928 + 60 60 50 A G 76607843 746 85 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCGTCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312017 77312018 77312018 exon 25 0.4166667 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCGTCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 1205 1221 0.9924468 0.9902773 0.991362 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1914009 0.04688343 0.9963395 0.8722199 NA 0.1191421 NA FALSE NA 1 3.382 . 5_prime_UTR_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/6 1 NA CAT A,G 8.236e-06 5:77312018 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 missense_variant 1.076053 0.97222 0.84885 0.487112 0.9702924 0 0.9868623 TRUE 8.12196e-06 ENSE00002369069_013 ENSE00002369069 013 5 76607759 76607928 + 60 60 50 C T 76607845 747 87 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATTGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312019 77312020 77312020 exon 27 0.45 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATTGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 2922 1268 0.960983 0.9499974 0.9554902 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.159937 0.006603522 0.9963395 0.8722199 NA 0.08327027 NA FALSE NA 0.872 -0.289 . 5_prime_UTR_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/6 rs373901109 1 NA T:0.0002 T:0 TCG C,T 2.471e-05 5:77312020 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 synonymous_variant 2.531378 0.9151 0.11104 0.487112 0.8826599 0 0.9868623 TRUE 1.62441e-05 ENSE00002369069_014 ENSE00002369069 014 5 76607759 76607928 + 60 60 50 G T 76607848 748 90 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGTCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312022 77312023 77312023 exon 30 0.5 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGTCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 248 474 1 0.9935787 0.9967894 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.198954 0.05018488 0.9963395 0.8722199 NA 0.1245695 NA FALSE NA 1 2.733 . 5_prime_UTR_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/6 rs200712280 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGC G,T 8.236e-06 5:77312023 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 synonymous_variant 1.101907 0.97768 0.85738 0.487112 0.7625342 0 0.9868623 TRUE 4.06108e-06 ENSE00002369069_015 ENSE00002369069 015 5 76607759 76607928 + 60 60 50 G A 76607863 749 105 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACACAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312037 77312038 77312038 exon -16 0.75 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACACAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 1409 603 0.9927864 0.9973564 0.9950714 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1917404 0.05396251 0.9963395 0.8722199 NA 0.1228515 NA FALSE NA 0.102 -1.054 . synonymous_variant LOW PDE8B HGNC 8794 ENST00000502945 3/6 1 NA CGC G,A 9.884e-05 5:77312038 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 synonymous_variant 2.021724 0.93056 0.04472 0.487112 0.8203889 0 0.9868623 TRUE 6.09206e-05 ENSE00002369069_017 ENSE00002369069 017 5 76607759 76607928 + 60 60 50 C T 76607882 751 124 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTATGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312056 77312057 77312057 downstr_intron 4 1.081633 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTATGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 1691 1251 0.9931552 0.9715826 0.9823689 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1921093 0.02818875 0.9963395 0.8722199 NA 0.110149 NA FALSE NA 0 -5.616 . splice_region_variant&intron_variant LOW PDE8B HGNC 8794 ENST00000502945 3/5 rs527558306 1 T:0.0006 T:0 T:0 NA T:0.002 T:0 T:0.001 ACG C,T 1.647e-05 5:77312057 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 splice_region_variant 1.317392 0.18477 0.00612 0.053691 0.7670418 0.424298 0.9868623 TRUE 8.12315e-06 ENSE00002369069_018 ENSE00002369069 018 5 76607759 76607928 + 60 60 50 G A 76607883 752 125 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACACCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312057 77312058 77312058 downstr_intron 5 1.102041 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACACCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 1694 799 0.9985077 0.9979671 0.9982374 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1974618 0.05457322 0.9963395 0.8722199 NA 0.1260175 NA FALSE NA 0.001 1.118 . splice_region_variant&intron_variant LOW PDE8B HGNC 8794 ENST00000502945 3/5 rs199736408 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 8.237e-06 5:77312058 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 splice_region_variant 1.367861 0.31367 0.03161 0.053691 0.7509603 0.407645 0.9868623 TRUE 4.0618e-06 ENSE00002369069_019 ENSE00002369069 019 5 76607759 76607928 + 60 60 50 C T 76607884 753 126 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGTCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312058 77312059 77312059 downstr_intron 6 1.122449 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGTCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 526 1215 0.988086 0.9949594 0.9915227 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1870401 0.05156554 0.9963395 0.8722199 NA 0.1193028 NA FALSE NA 0 -0.399 . splice_region_variant&intron_variant LOW PDE8B HGNC 8794 ENST00000502945 3/5 rs201597379 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCC C,T 1.647e-05 5:77312059 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 splice_region_variant 1.014453 0.1774 0.01439 0.053691 0.6993099 0.31702 0.9868623 TRUE 1.21846e-05 ENSE00002369069_020 ENSE00002369069 020 5 76607759 76607928 + 60 60 50 A G 76607896 754 138 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCGGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312070 77312071 77312071 downstr_intron 18 1.367347 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCGGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 760 1598 0.966428 0.9332448 0.9498364 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.165382 -0.01014907 0.9963395 0.8722199 NA 0.07761647 NA FALSE NA 0.001 0.069 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/5 1 NA CAG A,G 8.237e-06 5:77312071 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant -0.128101 0.14712 0.00333 0.053691 0.4831986 0.0840473 0.9868623 TRUE 1.62514e-05 ENSE00002369069_021 ENSE00002369069 021 5 76607759 76607928 + 60 60 50 C T 76607898 755 140 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGTCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 77312072 77312073 77312073 downstr_intron 20 1.408163 GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGTCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT mutant NA NA NA NA NA 2458 382 0.9950204 0.9963139 0.9956672 0.9962005 0.9964786 0.801046 0.9433938 NA NA 0.1939745 0.05292007 0.9963395 0.8722199 NA 0.1234473 NA FALSE NA 0.001 -0.546 . intron_variant MODIFIER PDE8B HGNC 8794 ENST00000502945 3/5 1 NA GCC C,T 8.237e-06 5:77312073 PDE8B HGNC Symbol protein_coding 219358 ENSG00000113231 ENSE00003523631 intron_variant -0.133772 0.19019 0.00101 0.053691 0.4240454 0.0448725 0.9868623 TRUE 4.06286e-06 ENSE00002369069_BRK ENSE00002369069 BRK 5 76607759 76607928 + 60 60 50 A,G; T,T NA NA NA GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTTTCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGCCACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT 77311933 77312103 NA NA NA NA NA NA GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTTTCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGCCACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT GGATGTATCCATTTGTGTAGTTTAAGACTTGACGCTTCTCTTGTGCTGTCCTTTATTTAGCAGGTGTCTTCTGCGGAGGTGCGCATCGGGCCCATGAGACTGACGCAGGACCCTATTCAGGTACGCCTCCTTTACTCAGCCCTGTGACTCAGATTATTTTCTTTTTTTTT control 590 654 0.8536693 0.85 0.8518346 277 430 0.3682791 0.2565983 0.3124387 0.9962005 0.9964786 0.801046 0.9433938 -0.1425312 -0.1464786 -0.4327668 -0.6867956 0.9963395 0.8722199 -0.1445049 -0.5597812 0.4152763 TRUE FALSE NA NA NA NA NA PDE8B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE8B NA NA NA ENSG00000113231 ENSE00003523631 NA NA NA NA NA NA NA 0.9868623 TRUE NA ENSE00002369425_000 ENSE00002369425 000 3 37170518 37170687 - 36 87 47 NA NA NA NA NA GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 NA NA NA NA NA NA TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC natural 143 183 0.997554 0.9948756 0.9962148 11190 6639 0.9728945 0.9126579 0.9427762 0.997554 0.9948756 0.9728945 0.9126579 0 0 0 0 0.9962148 0.9427762 0 0 0 FALSE FALSE NA NA NA NA NA LRRFIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP2 NA NA NA ENSG00000093167 ENSE00003784020 NA NA NA NA NA NA NA 4.800605e-08 FALSE NA ENSE00002369425_001 ENSE00002369425 001 3 37170518 37170687 - 36 87 47 A G 37170528 466 160 GACAAATATGGAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129036 37129037 37129037 downstr_intron 26 1.742857 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTCCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 275 181 0.9998503 1 0.9999251 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.0269558 0.08734215 0.9962148 0.9427762 NA 0.05714898 NA FALSE NA 0.004 1.357 . intron_variant MODIFIER LRRFIP2 HGNC 6703 ENST00000421276 4/14 1 NA GAA A,G 1.647e-05 3:37129037 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 intron_variant 1.867287 0.53658 0.34242 0.162113 0.8448256 0.672521 4.800605e-08 FALSE 8.13385e-06 ENSE00002369425_002 ENSE00002369425 002 3 37170518 37170687 - 36 87 47 G A 37170536 467 152 GACAAATATGAAATTAGGATTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129044 37129045 37129045 downstr_intron 18 1.514286 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAATCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 833 1853 1 0.9981855 0.9990927 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02710555 0.08552761 0.9962148 0.9427762 NA 0.05631658 NA FALSE NA 0 -0.035 rs149799263 intron_variant MODIFIER LRRFIP2 HGNC 6703 ENST00000421276 4/14 rs149799263 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GGT G,A 1.647e-05 3:37129045 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 intron_variant 1.937746 0.19523 0.04589 0.162113 0.8392719 0.16778 4.800605e-08 FALSE 8.13101e-06 ENSE00002369425_003 ENSE00002369425 003 3 37170518 37170687 - 36 87 47 A G 37170539 468 149 GACAAATATGAAATTAGGGTTGTTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129047 37129048 37129048 downstr_intron 15 1.428571 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAACAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 2136 2756 0.973461 0.9985753 0.9860181 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.0005665102 0.08591748 0.9962148 0.9427762 NA 0.043242 NA FALSE NA 0 -0.187 . intron_variant MODIFIER LRRFIP2 HGNC 6703 ENST00000421276 4/14 rs202200129 1 G:0.0006 G:0 G:0 NA G:0 G:0 G:0.0031 G:0 G:0.0005 TAT A,G 0.0005766 3:37129048 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 intron_variant 2.009741 0.19624 0.01201 0.162113 0.749092 0.16778 4.800605e-08 FALSE 0.000739717 ENSE00002369425_005 ENSE00002369425 005 3 37170518 37170687 - 36 87 47 T C 37170560 470 128 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTCTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129068 37129069 37129069 exon -7 0.9310345 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAGAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 2060 2030 0.9986264 0.9988862 0.9987563 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02573192 0.08622834 0.9962148 0.9427762 NA 0.05598013 NA FALSE NA 0.453 -0.343 . synonymous_variant LOW LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 NA TTT T,C 8.236e-06 3:37129069 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 synonymous_variant -0.396347 0.96111 0.14976 0.706298 0.4292092 0 4.800605e-08 FALSE 8.12539e-06 ENSE00002369425_006 ENSE00002369425 006 3 37170518 37170687 - 36 87 47 T C 37170561 471 127 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTCGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129069 37129070 37129070 exon -8 0.9195402 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACGAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 1879 663 0.9945731 0.9996548 0.997114 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02167864 0.086997 0.9962148 0.9427762 NA 0.05433782 NA FALSE NA 1 5.939 . missense_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 deleterious(0) benign(0.053) NA TTG T,C 8.236e-06 3:37129070 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 5.066688 0.98963 0.96017 0.706298 0.998062 0 4.800605e-08 FALSE 4.06296e-06 ENSE00002369425_007 ENSE00002369425 007 3 37170518 37170687 - 36 87 47 C G 37170571 472 117 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTGCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129079 37129080 37129080 exon -18 0.8045977 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGCAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 1202 1178 0.9987227 0.9810424 0.9898825 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02582821 0.06838455 0.9962148 0.9427762 NA 0.04710638 NA FALSE NA 1 7.448 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:37129080 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 6.467578 0.99563 0.98468 0.706298 0.9974678 0 4.800605e-08 FALSE 1.62534e-05 ENSE00002369425_008 ENSE00002369425 008 3 37170518 37170687 - 36 87 47 C T 37170571 473 117 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTTCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129079 37129080 37129080 exon -18 0.8045977 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGAAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 848 600 0.998451 0.9974736 0.9979623 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02555653 0.08481578 0.9962148 0.9427762 NA 0.05518615 NA FALSE NA 1 7.448 NA NA NA LRRFIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP2 NA NA NA ENSG00000093167 ENSE00003784020 missense_variant 7.593586 0.99541 0.97949 0.706298 0.9992886 0 4.800605e-08 FALSE NA ENSE00002369425_009 ENSE00002369425 009 3 37170518 37170687 - 36 87 47 C T 37170572 474 116 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCTAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129080 37129081 37129081 exon -19 0.7931034 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTAGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 814 916 0.9634612 0.9782291 0.9708451 0.997554 0.9948756 0.9728945 0.9126579 NA NA -0.009433276 0.0655712 0.9962148 0.9427762 NA 0.02806896 NA FALSE NA 1 2.99 . synonymous_variant LOW LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 NA CCA C,T 8.236e-06 3:37129081 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 synonymous_variant 1.512124 0.98608 0.89146 0.706298 0.7508262 0 4.800605e-08 FALSE 4.06365e-06 ENSE00002369425_010 ENSE00002369425 010 3 37170518 37170687 - 36 87 47 G A 37170574 475 114 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAATTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129082 37129083 37129083 exon -21 0.7701149 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAATTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 2768 2184 0.9613343 0.9962926 0.9788135 0.997554 0.9948756 0.9728945 0.9126579 NA NA -0.01156015 0.0836348 0.9962148 0.9427762 NA 0.03603732 NA FALSE NA 1 4.524 . synonymous_variant LOW LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 NA AGT G,A 1.647e-05 3:37129083 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 synonymous_variant 1.141358 0.9893 0.95152 0.706298 0.7697987 0 4.800605e-08 FALSE 1.21897e-05 ENSE00002369425_011 ENSE00002369425 011 3 37170518 37170687 - 36 87 47 C T 37170579 476 109 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTTTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129087 37129088 37129088 exon -26 0.7126437 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAAAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 2061 1282 0.9976498 0.9999703 0.99881 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02475531 0.08731246 0.9962148 0.9427762 NA 0.05603388 NA FALSE NA 1 3.737 . missense_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 tolerated(0.61) probably_damaging(0.937) NA TCT C,T 8.236e-06 3:37129088 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 4.742152 0.9855 0.91167 0.706298 0.9695418 0 4.800605e-08 FALSE 1.21884e-05 ENSE00002369425_012 ENSE00002369425 012 3 37170518 37170687 - 36 87 47 C T 37170585 477 103 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGTGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129093 37129094 37129094 exon -32 0.6436782 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACACATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 1035 551 0.9964132 0.8625615 0.9294873 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02351874 -0.05009639 0.9962148 0.9427762 NA -0.01328883 NA FALSE NA 1 5.738 . missense_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 COSM1213938 1 tolerated(0.06) probably_damaging(0.993) NA GCG C,T 2.471e-05 3:37129094 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 7.389234 0.99228 0.96385 0.706298 0.9995319 0 4.800605e-08 FALSE 2.03181e-05 ENSE00002369425_013 ENSE00002369425 013 3 37170518 37170687 - 36 87 47 G A 37170586 478 102 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCATATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129094 37129095 37129095 exon -33 0.6321839 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATATGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 1028 1255 0.9981991 0.9902923 0.9942457 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02530463 0.07763448 0.9962148 0.9427762 NA 0.05146955 NA FALSE NA 1 7.404 rs141469705 missense_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 rs141469705 1 deleterious(0) probably_damaging(0.995) NA A:0 A:0.0001 CGT G,A 8.236e-06 3:37129095 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 7.863024 0.99551 0.9814 0.706298 0.9994106 0 4.800605e-08 FALSE 8.12863e-06 ENSE00002369425_014 ENSE00002369425 014 3 37170518 37170687 - 36 87 47 T C 37170591 479 97 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATACCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129099 37129100 37129100 exon -38 0.5747126 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGGTATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 851 611 1 0.9876355 0.9938177 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02710555 0.07497763 0.9962148 0.9427762 NA 0.05104159 NA FALSE NA 1 7.66 . missense_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 rs527627116&COSM1537542 1 tolerated(0.08) probably_damaging(0.991) C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 ATC T,C 0.000173 3:37129100 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 6.305535 0.99365 0.97749 0.706298 0.998084 0 4.800605e-08 FALSE 0.000247859 ENSE00002369425_015 ENSE00002369425 015 3 37170518 37170687 - 36 87 47 C A 37170610 480 78 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGAAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129118 37129119 37129119 exon 31 0.3563218 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTTCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 970 238 0.971763 0.990581 0.981172 0.997554 0.9948756 0.9728945 0.9126579 NA NA -0.001131499 0.07792318 0.9962148 0.9427762 NA 0.03839584 NA FALSE NA 1 7.448 . missense_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 rs373331920 1 deleterious(0.05) probably_damaging(0.987) NA A:0 A:0.0001 GCA C,A 8.236e-06 3:37129119 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 6.807762 0.99559 0.98373 0.706298 0.9980764 0 4.800605e-08 FALSE 4.06448e-06 ENSE00002369425_016 ENSE00002369425 016 3 37170518 37170687 - 36 87 47 C T 37170615 481 73 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCTGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129123 37129124 37129124 exon 26 0.2988506 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACAGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 2167 563 0.9915072 0.9679944 0.9797508 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.01861279 0.05533658 0.9962148 0.9427762 NA 0.03697468 NA FALSE NA 1 7.448 . missense_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 deleterious(0.01) probably_damaging(0.975) NA CCG C,T 2.471e-05 3:37129124 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 7.856449 0.99613 0.98452 0.706298 0.9996114 0 4.800605e-08 FALSE 1.21967e-05 ENSE00002369425_017 ENSE00002369425 017 3 37170518 37170687 - 36 87 47 C T 37170630 482 58 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCTTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129138 37129139 37129139 exon 11 0.1264368 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAAGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 1060 2172 0.9999612 0.9952316 0.9975964 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02706672 0.08257371 0.9962148 0.9427762 NA 0.05482021 NA FALSE NA 1 5.74 . missense_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 tolerated(0.12) probably_damaging(0.937) NA CCT C,T 3.295e-05 3:37129139 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 5.194012 0.99203 0.96172 0.706298 0.9958351 0 4.800605e-08 FALSE 4.06755e-05 ENSE00002369425_018 ENSE00002369425 018 3 37170518 37170687 - 36 87 47 G A 37170639 483 49 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTACCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129147 37129148 37129148 exon 2 0.02298851 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGTAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 1133 714 0.9959172 0.9899477 0.9929325 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02302279 0.07728988 0.9962148 0.9427762 NA 0.05015634 NA FALSE NA 1 9.381 . missense_variant&splice_region_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 deleterious(0.01) probably_damaging(0.987) NA TGC G,A 8.236e-06 3:37129148 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 6.754408 0.99639 0.99075 0.706298 0.9993326 0 4.800605e-08 FALSE 4.06977e-06 ENSE00002369425_019 ENSE00002369425 019 3 37170518 37170687 - 36 87 47 C T 37170640 484 48 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGTCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129148 37129149 37129149 exon 1 0.01149425 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGACAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 876 1324 0.9980226 0.9999425 0.9989825 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02512815 0.08728464 0.9962148 0.9427762 NA 0.05620639 NA FALSE NA 1 7.448 . missense_variant&splice_region_variant MODERATE LRRFIP2 HGNC 6703 ENST00000421276 4/15 1 tolerated(0.07) probably_damaging(0.991) NA GCC C,T 8.236e-06 3:37129149 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 missense_variant 6.996506 0.99618 0.98443 0.706298 0.9993037 0 4.800605e-08 FALSE 4.07014e-06 ENSE00002369425_020 ENSE00002369425 020 3 37170518 37170687 - 36 87 47 A G 37170646 485 42 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAGAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129154 37129155 37129155 upstr_intron -6 -0.106383 TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTCTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 479 2073 0.9938596 0.9986735 0.9962665 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02096513 0.08601563 0.9962148 0.9427762 NA 0.05349038 NA FALSE NA 1 3.959 . splice_region_variant&intron_variant LOW LRRFIP2 HGNC 6703 ENST00000421276 3/14 1 NA AAA A,G 1.647e-05 3:37129155 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 splice_region_variant 1.654893 0.98388 0.64084 0.074898 0.9224659 0.961634 4.800605e-08 FALSE 1.22217e-05 ENSE00002369425_021 ENSE00002369425 021 3 37170518 37170687 - 36 87 47 C T 37170661 486 27 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTTAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 37129169 37129170 37129170 upstr_intron -21 -0.4255319 TGTTTTTGTTTTTGTTGTATAAAGCTAAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 1747 674 0.9369155 0.9980568 0.9674861 0.997554 0.9948756 0.9728945 0.9126579 NA NA -0.03597899 0.08539896 0.9962148 0.9427762 NA 0.02470999 NA FALSE NA 0.001 0.002 . intron_variant MODIFIER LRRFIP2 HGNC 6703 ENST00000421276 3/14 1 NA TCA C,T 8.236e-06 3:37129170 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 intron_variant 2.817673 0.6029 0.26242 0.074898 0.8807684 0.210199 4.800605e-08 FALSE NA ENSE00002369425_022 ENSE00002369425 022 3 37170518 37170687 - 36 87 47 T C 37170666 487 22 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTCTATACAACAAAAACAAAAACA 37129026 37129196 37129174 37129175 37129175 upstr_intron -26 -0.5319149 TGTTTTTGTTTTTGTTGTATAGAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 2136 1597 0.5272838 0.6738626 0.6005732 0.997554 0.9948756 0.9728945 0.9126579 NA NA -0.4456107 -0.2387953 0.9962148 0.9427762 NA -0.342203 NA FALSE NA 0.012 1.729 . intron_variant MODIFIER LRRFIP2 HGNC 6703 ENST00000421276 3/14 1 NA TTT T,C 8.236e-06 3:37129175 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 intron_variant 2.355585 0.38914 0.77878 0.074898 0.7913783 0.652842 4.800605e-08 FALSE 4.09571e-06 ENSE00002369425_023 ENSE00002369425 023 3 37170518 37170687 - 36 87 47 T C 37170669 488 19 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTACACAACAAAAACAAAAACA 37129026 37129196 37129177 37129178 37129178 upstr_intron -29 -0.5957447 TGTTTTTGTTTTTGTTGTGTAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 2091 976 0.9982883 0.8155536 0.9069209 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.02539384 -0.0971043 0.9962148 0.9427762 NA -0.03585523 NA FALSE NA 0 -0.141 . intron_variant MODIFIER LRRFIP2 HGNC 6703 ENST00000421276 3/14 rs376632994 1 NA C:0 C:0.0003 ATA T,C 0.0003047 3:37129178 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 intron_variant 2.203509 0.20526 0.01496 0.074898 0.7965362 0.12974 4.800605e-08 FALSE 0.000328116 ENSE00002369425_024 ENSE00002369425 024 3 37170518 37170687 - 36 87 47 A G 37170677 489 11 GACAAATATGAAATTAGGGTTATTCCCTCAAATTACCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCCTGAAAAGTAATATAAAACTCAGCTTTATACAACAAGAACAAAAACA 37129026 37129196 37129185 37129186 37129186 upstr_intron -37 -0.7659574 TGTTTTTGTTCTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC mutant NA NA NA NA NA 1052 1250 0.9988607 0.9965155 0.9976881 0.997554 0.9948756 0.9728945 0.9126579 NA NA 0.0259662 0.0838577 0.9962148 0.9427762 NA 0.05491195 NA FALSE NA 0 -0.977 . intron_variant MODIFIER LRRFIP2 HGNC 6703 ENST00000421276 3/14 1 NA AAA A,G 8.237e-06 3:37129186 LRRFIP2 HGNC Symbol protein_coding 131033 ENSG00000093167 ENSE00003784020 intron_variant 1.494371 0.15158 0.05433 0.074898 0.704795 0.128379 4.800605e-08 FALSE 8.24919e-06 ENSE00002369425_BRK ENSE00002369425 BRK 3 37170518 37170687 - 36 87 47 A,G; T,T NA NA NA GACAAATATGAAATTAGGGTTATTCCCTCAAATTGGCTCTTTTTGTTGTCGTTCCAGTTCTCTCATGCGTATATCTCTTGCTTCTGCCCGGGCAGCCCGTTTTGCTGCCAGCCTTGCCTCTGCAAGAAAAGTAATATAAAACTCAGCTTTATACAACAAAAACAAAAACA 37129026 37129196 NA NA NA NA NA NA TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCTTGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGCCAATTTGAGGGAATAACCCTAATTTCATATTTGTC TGTTTTTGTTTTTGTTGTATAAAGCTGAGTTTTATATTACTTTTCAGGCAGAGGCAAGGCTGGCAGCAAAACGGGCTGCCCGGGCAGAAGCAAGAGATATACGCATGAGAGAACTGGAACGACAACAAAAAGAGGTAATTTGAGGGAATAACCCTAATTTCATATTTGTC control 121 216 0 0.01209335 0.006046677 258 455 0.1806933 0.2006531 0.1906732 0.997554 0.9948756 0.9728945 0.9126579 -0.997554 -0.9827823 -0.7922012 -0.7120047 0.9962148 0.9427762 -0.9901681 -0.752103 0.2380651 TRUE TRUE NA NA NA NA NA LRRFIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP2 NA NA NA ENSG00000093167 ENSE00003784020 NA NA NA NA NA NA NA 4.800605e-08 FALSE NA ENSE00002369644_000 ENSE00002369644 000 17 1003847 1004016 - 30 99 41 NA NA NA NA NA CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 NA NA NA NA NA NA CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC natural 92 49 0.9929207 0.9908802 0.9919005 1288 3997 0.8770954 0.9612011 0.9191483 0.9929207 0.9908802 0.8770954 0.9612011 0 0 0 0 0.9919005 0.9191483 0 0 0 FALSE FALSE NA NA NA NA NA ABR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABR NA NA NA ENSG00000159842 ENSE00003649730 NA NA NA NA NA NA NA 0.9999495 TRUE NA ENSE00002369644_001 ENSE00002369644 001 17 1003847 1004016 - 30 99 41 A G 1003857 100 160 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCCGGGGCCTTCC 1100606 1100776 1100616 1100617 1100617 downstr_intron 20 1.689655 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCCGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 658 617 0.995603 0.9984351 0.997019 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1185075 0.03723404 0.9919005 0.9191483 NA 0.07787078 NA FALSE NA 0 -0.04 . intron_variant MODIFIER ABR HGNC 81 ENST00000291107 2/21 rs374063797 1 NA G:0 G:0.0001 CAG A,G 2.471e-05 17:1100617 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 intron_variant 0.017764 0.18522 0.02973 0.256867 0.3351657 0.055551 0.9999495 TRUE 2.84914e-05 ENSE00002369644_002 ENSE00002369644 002 17 1003847 1004016 - 30 99 41 C T 1003861 101 156 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTACTCTGGGGCCTTCC 1100606 1100776 1100620 1100621 1100621 downstr_intron 16 1.551724 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTACTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 312 39 1 0.9990182 0.9995091 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.03781707 0.9919005 0.9191483 NA 0.08036082 NA FALSE NA 0 -0.496 . intron_variant MODIFIER ABR HGNC 81 ENST00000291107 2/21 rs529244340 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCA C,T 1.647e-05 17:1100621 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 intron_variant 0.091936 0.13829 0.01635 0.256867 0.3434766 0.055551 0.9999495 TRUE 2.03371e-05 ENSE00002369644_004 ENSE00002369644 004 17 1003847 1004016 - 30 99 41 G A 1003863 103 154 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCTTGCTCTGGGGCCTTCC 1100606 1100776 1100622 1100623 1100623 downstr_intron 14 1.482759 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCTTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 30 26 1 1 1 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.0387989 0.9919005 0.9191483 NA 0.08085173 NA FALSE NA 0 -4.396 NA NA NA ABR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:1100623 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 intron_variant -0.705728 0.09034 0.00434 0.256867 0.3288263 0.055551 0.9999495 TRUE 4.0655e-06 ENSE00002369644_005 ENSE00002369644 005 17 1003847 1004016 - 30 99 41 C T 1003888 104 129 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAACCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100647 1100648 1100648 exon -12 0.8888889 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAACCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant 16 63 0.803912 0.9017823 0.8528471 NA NA NA NA NA 0.9929207 0.9908802 0.8770954 0.9612011 -0.1890087 -0.08909795 NA NA 0.9919005 0.9191483 -0.1390534 NA NA NA FALSE 1 7.778 rs146820192 missense_variant MODERATE ABR HGNC 81 ENST00000291107 2/22 rs146820192 1 tolerated(0.27) probably_damaging(0.999) NA T:0 T:0.0001 GCT C,T 8.236e-06 17:1100648 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 missense_variant 5.820486 0.99218 0.99531 0.706548 0.9989527 0 0.9999495 TRUE 4.06171e-06 ENSE00002369644_006 ENSE00002369644 006 17 1003847 1004016 - 30 99 41 G A 1003894 105 123 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGTTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100653 1100654 1100654 exon -18 0.8282828 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGTTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 53 121 1 1 1 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.0387989 0.9919005 0.9191483 NA 0.08085173 NA FALSE NA 1 3.481 . synonymous_variant LOW ABR HGNC 81 ENST00000291107 2/22 1 NA AGC G,A 8.236e-06 17:1100654 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 synonymous_variant 1.269661 0.96602 0.95368 0.706548 0.7890829 0 0.9999495 TRUE 4.06161e-06 ENSE00002369644_007 ENSE00002369644 007 17 1003847 1004016 - 30 99 41 G A 1003904 106 113 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTATATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100663 1100664 1100664 exon -28 0.7272727 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTATATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 264 861 0.9500234 0.9961986 0.973111 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.072928 0.03499747 0.9919005 0.9191483 NA 0.05396273 NA FALSE NA 1 2.415 . synonymous_variant LOW ABR HGNC 81 ENST00000291107 2/22 1 NA TGT G,A 8.236e-06 17:1100664 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 synonymous_variant 0.794546 0.96924 0.91229 0.706548 0.6934638 0 0.9999495 TRUE 4.06154e-06 ENSE00002369644_008 ENSE00002369644 008 17 1003847 1004016 - 30 99 41 C T 1003910 107 107 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAAATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100669 1100670 1100670 exon -34 0.6666667 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAAATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 141 111 1 1 1 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.0387989 0.9919005 0.9191483 NA 0.08085173 NA FALSE NA 1 0.746 . synonymous_variant LOW ABR HGNC 81 ENST00000291107 2/22 1 NA TCT C,T 8.236e-06 17:1100670 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 synonymous_variant 1.760503 0.987 0.91697 0.706548 0.7511337 0 0.9999495 TRUE 8.12236e-06 ENSE00002369644_009 ENSE00002369644 009 17 1003847 1004016 - 30 99 41 C T 1003915 108 102 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCAAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100674 1100675 1100675 exon -39 0.6161616 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCAAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 141 64 1 1 1 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.0387989 0.9919005 0.9191483 NA 0.08085173 NA FALSE NA 1 7.778 . missense_variant MODERATE ABR HGNC 81 ENST00000291107 2/22 1 deleterious(0) probably_damaging(0.997) NA TCG C,T 8.236e-06 17:1100675 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 missense_variant 7.744279 0.99236 0.99539 0.706548 0.9993609 0 0.9999495 TRUE 1.21832e-05 ENSE00002369644_010 ENSE00002369644 010 17 1003847 1004016 - 30 99 41 G A 1003916 109 101 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGTGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100675 1100676 1100676 exon -40 0.6060606 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGTGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 325 29 1 0.9959634 0.9979817 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.03476226 0.9919005 0.9191483 NA 0.07883341 NA FALSE NA 0 -3.924 . synonymous_variant LOW ABR HGNC 81 ENST00000291107 2/22 rs547338113 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 5.765e-05 17:1100676 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 synonymous_variant 1.674195 0.93453 0.02578 0.706548 0.8457696 0 0.9999495 TRUE 7.31048e-05 ENSE00002369644_011 ENSE00002369644 011 17 1003847 1004016 - 30 99 41 C A 1003928 110 89 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGTTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100687 1100688 1100688 exon 48 0.4848485 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGTTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 195 62 0.9952508 0.85824 0.9267454 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1181554 -0.1029611 0.9919005 0.9191483 NA 0.007597165 NA FALSE NA 0 -2.594 . synonymous_variant LOW ABR HGNC 81 ENST00000291107 2/22 rs559330256 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 ACC C,A 1.647e-05 17:1100688 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 synonymous_variant 2.741299 0.67186 0.07469 0.706548 0.5651269 0 0.9999495 TRUE 1.21833e-05 ENSE00002369644_012 ENSE00002369644 012 17 1003847 1004016 - 30 99 41 C T 1003931 111 86 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCAGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100690 1100691 1100691 exon 45 0.4545455 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCAGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 14 153 1 0.9947961 0.997398 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.03359496 0.9919005 0.9191483 NA 0.07824976 NA FALSE NA 0 -2.091 . synonymous_variant LOW ABR HGNC 81 ENST00000291107 2/22 rs376958191&COSM178102 1 NA T:0 T:0.0001 CCG C,T 7.413e-05 17:1100691 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 synonymous_variant 2.790866 0.88377 0.08786 0.706548 0.7956436 0 0.9999495 TRUE 9.74635e-05 ENSE00002369644_013 ENSE00002369644 013 17 1003847 1004016 - 30 99 41 G A 1003942 112 75 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGTTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100701 1100702 1100702 exon 34 0.3434343 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGTTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 83 300 0.9756727 1 0.9878363 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.09857722 0.0387989 0.9919005 0.9191483 NA 0.06868806 NA FALSE NA 1 2.684 . synonymous_variant LOW ABR HGNC 81 ENST00000291107 2/22 1 NA AGC G,A 1.647e-05 17:1100702 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 synonymous_variant 1.198429 0.98274 0.92604 0.706548 0.8377342 0 0.9999495 TRUE 2.03061e-05 ENSE00002369644_018 ENSE00002369644 018 17 1003847 1004016 - 30 99 41 G A 1003986 117 31 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGTGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100745 1100746 1100746 upstr_intron -11 -0.2439024 CCTTGCTCATGAGCTGTTGGCTGTGCTTTGTGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 100 350 1 1 1 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.0387989 0.9919005 0.9191483 NA 0.08085173 NA FALSE NA 0.001 0.737 . intron_variant MODIFIER ABR HGNC 81 ENST00000291107 1/21 1 NA CGC G,A 8.236e-06 17:1100746 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 intron_variant 0.105413 0.41321 0.24724 0.099367 0.5915432 0.227261 0.9999495 TRUE 1.21892e-05 ENSE00002369644_019 ENSE00002369644 019 17 1003847 1004016 - 30 99 41 C T 1003994 118 23 CCTTGCTCATGAGCTGTTGGCTATGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100753 1100754 1100754 upstr_intron -19 -0.4390244 CCTTGCTCATGAGCTGTTGGCTATGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 23 172 1 1 1 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.0387989 0.9919005 0.9191483 NA 0.08085173 NA FALSE NA 0 0.879 . intron_variant MODIFIER ABR HGNC 81 ENST00000291107 1/21 rs368633913 1 NA T:0.0002 T:0 ACA C,T 8.236e-06 17:1100754 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 intron_variant -0.103075 0.21223 0.083 0.099367 0.5204668 0.0682425 0.9999495 TRUE 4.06312e-06 ENSE00002369644_020 ENSE00002369644 020 17 1003847 1004016 - 30 99 41 C G 1003997 119 20 CCTTGCTCATGAGCTGTTGCCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100756 1100757 1100757 upstr_intron -22 -0.5121951 CCTTGCTCATGAGCTGTTGCCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 44 673 1 0.9997649 0.9998825 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.03856383 0.9919005 0.9191483 NA 0.0807342 NA FALSE NA 0 0.386 . intron_variant MODIFIER ABR HGNC 81 ENST00000291107 1/21 1 NA GCC C,G 8.236e-06 17:1100757 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 intron_variant -0.174941 0.16839 0.07569 0.099367 0.474232 0.0682425 0.9999495 TRUE 4.06402e-06 ENSE00002369644_021 ENSE00002369644 021 17 1003847 1004016 - 30 99 41 C G 1004001 120 16 CCTTGCTCATGAGCTCTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC 1100606 1100776 1100760 1100761 1100761 upstr_intron -26 -0.6097561 CCTTGCTCATGAGCTCTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC CCTTGCTCATGAGCTGTTGGCTGTGCTTTGCGTTTGTGCAGGTGGAAGCAGGGAAAGGCCTGGAGATGAGGAAGCTGGTTCTCTCGGGGTTCTTGGCCAGCGAAGAGATCTACATTAACCAGCTGGAAGCCCTGTTGCTGGTGAGTACAGTCCCTGCTCTGGGGCCTTCC mutant NA NA NA NA NA 46 350 1 1 1 0.9929207 0.9908802 0.8770954 0.9612011 NA NA 0.1229046 0.0387989 0.9919005 0.9191483 NA 0.08085173 NA FALSE NA 0 -0.522 . intron_variant MODIFIER ABR HGNC 81 ENST00000291107 1/21 1 NA ACA C,G 8.236e-06 17:1100761 ABR HGNC Symbol protein_coding 225503 ENSG00000159842 ENSE00003649730 intron_variant 0.032202 0.21317 0.03003 0.099367 0.6359014 0.0682425 0.9999495 TRUE 1.62567e-05 ENSE00002369901_000 ENSE00002369901 000 2 74594434 74594603 - 45 69 56 NA NA NA NA NA TTTCTGATCTCCACGGGGGCTCAATCACTGGCCCAGATACTTCACCTTAATGTGGTCAGCCAGCTGCATAGTACAGTCCTCAGGCTGTTCGGCAAGGTGGATGCTGTACAGATGCTGAGGAGAGATAACAGACAGACAACTTTTAGGCCCTGGAGCGGGTGGGGAGTTCT 74367306 74367476 NA NA NA NA NA NA AGAACTCCCCACCCGCTCCAGGGCCTAAAAGTTGTCTGTCTGTTATCTCTCCTCAGCATCTGTACAGCATCCACCTTGCCGAACAGCCTGAGGACTGTACTATGCAGCTGGCTGACCACATTAAGGTGAAGTATCTGGGCCAGTGATTGAGCCCCCGTGGAGATCAGAAA AGAACTCCCCACCCGCTCCAGGGCCTAAAAGTTGTCTGTCTGTTATCTCTCCTCAGCATCTGTACAGCATCCACCTTGCCGAACAGCCTGAGGACTGTACTATGCAGCTGGCTGACCACATTAAGGTGAAGTATCTGGGCCAGTGATTGAGCCCCCGTGGAGATCAGAAA natural 48 22 0.9605552 0.991727 0.9761411 889 163 0.8561823 1 0.9280911 0.9605552 0.991727 0.8561823 1 0 0 0 0 0.9761411 0.9280911 0 0 0 FALSE FALSE NA NA NA NA NA DCTN1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DCTN1 NA NA NA ENSG00000204843 ENSE00003625068 NA NA NA NA NA NA NA 0.291891 FALSE NA ENSE00002369901_002 ENSE00002369901 002 2 74594434 74594603 - 45 69 56 G A 74594448 1773 156 TTTCTGATCTCCACAGGGGCTCAATCACTGGCCCAGATACTTCACCTTAATGTGGTCAGCCAGCTGCATAGTACAGTCCTCAGGCTGTTCGGCAAGGTGGATGCTGTACAGATGCTGAGGAGAGATAACAGACAGACAACTTTTAGGCCCTGGAGCGGGTGGGGAGTTCT 74367306 74367476 74367320 74367321 74367321 downstr_intron 31 1.704545 AGAACTCCCCACCCGCTCCAGGGCCTAAAAGTTGTCTGTCTGTTATCTCTCCTCAGCATCTGTACAGCATCCACCTTGCCGAACAGCCTGAGGACTGTACTATGCAGCTGGCTGACCACATTAAGGTGAAGTATCTGGGCCAGTGATTGAGCCCCTGTGGAGATCAGAAA AGAACTCCCCACCCGCTCCAGGGCCTAAAAGTTGTCTGTCTGTTATCTCTCCTCAGCATCTGTACAGCATCCACCTTGCCGAACAGCCTGAGGACTGTACTATGCAGCTGGCTGACCACATTAAGGTGAAGTATCTGGGCCAGTGATTGAGCCCCCGTGGAGATCAGAAA mutant NA NA NA NA NA 184 66 0.9911786 1 0.9955893 0.9605552 0.991727 0.8561823 1 NA NA 0.1349963 0 0.9761411 0.9280911 NA 0.06749817 NA FALSE NA 0 0.439 . intron_variant MODIFIER DCTN1 HGNC 2711 ENST00000394003 18/30 rs371023649 1 NA A:0 A:0.0002 CGG G,A 4.118e-05 2:74367321 DCTN1 HGNC Symbol protein_coding 30933 ENSG00000204843 ENSE00003625068 intron_variant -0.979175 0.07306 6e-04 0.295142 0.534467 0.0591591 0.291891 FALSE 2.03663e-05 ENSE00002370008_000 ENSE00002370008 000 3 131404681 131404850 - 38 84 48 NA NA NA NA NA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA 131685836 131686006 NA NA NA NA NA NA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA natural NA NA NA NA NA 1213 2019 0.9996017 0.9989157 0.9992587 NA NA 0.9996017 0.9989157 NA NA 0 0 NA 0.9992587 NA 0 NA FALSE NA NA NA NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003662998 NA NA NA NA NA NA NA 0.7751393 FALSE NA ENSE00002370008_001 ENSE00002370008 001 3 131404681 131404850 - 38 84 48 G A 131404692 2984 159 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTTTTATCTCCTAA 131685836 131686006 131685847 131685848 131685848 downstr_intron 27 1.72973 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTTTTATCTCCTAA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA mutant NA NA NA NA NA 146 564 0.9989487 1 0.9994744 NA NA 0.9996017 0.9989157 NA NA -0.0006529699 0.001084253 NA 0.9992587 NA 0.0002156417 NA FALSE NA 0 -0.196 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 7/16 1 NA AGA G,A 1.647e-05 3:131685848 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003662998 intron_variant 0.240353 0.15878 0.01827 0.053691 0.6730159 0.0937141 0.7751393 FALSE 8.4448e-06 ENSE00002370008_006 ENSE00002370008 006 3 131404681 131404850 - 38 84 48 T G 131404724 2989 127 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGACCTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA 131685836 131686006 131685879 131685880 131685880 exon -6 0.9404762 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGACCTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA mutant NA NA NA NA NA 420 91 1 0.9317882 0.9658941 NA NA 0.9996017 0.9989157 NA NA 0.0003982856 -0.06712758 NA 0.9992587 NA -0.03336465 NA FALSE NA 1 6.876 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 7/17 1 deleterious(0.01) benign(0.369) NA GTT T,G 8.236e-06 3:131685880 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003662998 missense_variant 5.866469 0.99123 0.96291 0.638212 0.9975776 0 0.7751393 FALSE 4.07083e-06 ENSE00002370008_008 ENSE00002370008 008 3 131404681 131404850 - 38 84 48 C A 131404737 2991 114 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCATCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA 131685836 131686006 131685892 131685893 131685893 exon -19 0.7857143 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCATCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA mutant NA NA NA NA NA 22 90 1 1 1 NA NA 0.9996017 0.9989157 NA NA 0.0003982856 0.001084253 NA 0.9992587 NA 0.0007412694 NA FALSE NA 1 2.486 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 7/17 1 tolerated(0.15) possibly_damaging(0.465) NA GCT C,A 8.237e-06 3:131685893 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003662998 missense_variant 4.958411 0.98891 0.9132 0.638212 0.995322 0 0.7751393 FALSE 4.06825e-06 ENSE00002370008_009 ENSE00002370008 009 3 131404681 131404850 - 38 84 48 T G 131404745 2992 106 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCACCTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA 131685836 131686006 131685900 131685901 131685901 exon -27 0.6904762 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCACCTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA mutant NA NA NA NA NA 261 1091 1 0.9919422 0.9959711 NA NA 0.9996017 0.9989157 NA NA 0.0003982856 -0.006973555 NA 0.9992587 NA -0.003287635 NA FALSE NA 1 6.876 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 7/17 1 deleterious(0.02) benign(0.369) NA GTT T,G 8.237e-06 3:131685901 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003662998 missense_variant 5.826194 0.99111 0.96279 0.638212 0.9959297 0 0.7751393 FALSE 4.06669e-06 ENSE00002370008_010 ENSE00002370008 010 3 131404681 131404850 - 38 84 48 A G 131404749 2993 102 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGACGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA 131685836 131686006 131685904 131685905 131685905 exon -31 0.6428571 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGACGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA mutant NA NA NA NA NA 235 1130 1 0.8409389 0.9204694 NA NA 0.9996017 0.9989157 NA NA 0.0003982856 -0.1579769 NA 0.9992587 NA -0.07878929 NA FALSE NA 1 0.815 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 7/17 1 NA CAT A,G 2.471e-05 3:131685905 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003662998 synonymous_variant 0.623165 0.96485 0.58046 0.638212 0.5418843 0 0.7751393 FALSE 2.84645e-05 ENSE00002370008_012 ENSE00002370008 012 3 131404681 131404850 - 38 84 48 A G 131404755 2995 96 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAACGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA 131685836 131686006 131685910 131685911 131685911 exon -37 0.5714286 GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAACGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA GATCAAATGCAGGAGGAAAAACAATTCATTGACGTTTATCTATTTTAGGATTTCTTCAGTAAATCTGACCCATTTCTGGAAATTTTTCGTATGAATGATGATGCAACTCAGCAGCTGGTGCACCGAACTGAGGTAAGAGTCATCTTCAGCTATGCCCTCTTATCTCCTAA mutant NA NA NA NA NA 370 292 0.9887653 1 0.9943826 NA NA 0.9996017 0.9989157 NA NA -0.01083644 0.001084253 NA 0.9992587 NA -0.004876093 NA FALSE NA 0.96 0.212 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 7/17 1 NA CAT A,G 8.237e-06 3:131685911 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003662998 synonymous_variant 0.77911 0.9635 0.5775 0.553676 0.6119937 0 0.7751393 FALSE 4.06646e-06 ENSE00002370861_000 ENSE00002370861 000 21 38572489 38572658 + 44 93 33 NA NA NA NA NA AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 NA NA NA NA NA NA AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG natural 489 661 0.8554805 0.8150385 0.8352595 4338 5487 0.619131 0.7978644 0.7084977 0.8554805 0.8150385 0.619131 0.7978644 0 0 0 0 0.8352595 0.7084977 0 0 0 FALSE FALSE NA NA NA NA NA TTC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC3 NA NA NA ENSG00000182670 ENSE00003636513 NA NA NA NA NA NA NA 5.394226e-20 FALSE NA ENSE00002370861_001 ENSE00002370861 001 21 38572489 38572658 + 44 93 33 A G 38572509 143 21 AACTGTAGTTATTCTTTACTGTTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200207 37200208 37200208 upstr_intron -24 -0.5227273 AACTGTAGTTATTCTTTACTGTTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 805 1083 0.7973535 0.6738745 0.735614 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.1782225 -0.1239898 0.8352595 0.7084977 NA 0.02711635 NA FALSE NA 0 0.154 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 1 NA TAT A,G 8.236e-06 21:37200208 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 intron_variant 0.031719 0.12627 0.03016 0.163922 0.219251 0.0481801 5.394226e-20 FALSE 8.15687e-06 ENSE00002370861_002 ENSE00002370861 002 21 38572489 38572658 + 44 93 33 G A 38572515 144 27 AACTGTAGTTATTCTTTACTATTCAGATGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200213 37200214 37200214 upstr_intron -18 -0.3863636 AACTGTAGTTATTCTTTACTATTCAGATGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 1416 852 0.8210741 0.8171459 0.81911 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.2019431 0.01928152 0.8352595 0.7084977 NA 0.1106123 NA FALSE NA 0 -0.184 rs2835663 downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 rs2835663 1 A:0.1078 A:0.2564 A:0.17 NA A:0.0417 A:0.002 A:0.0399 A:0.2315 A:0.0021 GGT G,A 0.043 21:37200214 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 intron_variant -0.049735 0.11482 0.00471 0.163922 0.4951395 0.0481801 5.394226e-20 FALSE 0.0448145 ENSE00002370861_003 ENSE00002370861 003 21 38572489 38572658 + 44 93 33 T G 38572526 145 38 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTGCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200224 37200225 37200225 upstr_intron -7 -0.1363636 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTGCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 470 601 0.07957831 0 0.03978915 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.5395527 -0.7978644 0.8352595 0.7084977 NA -0.6687085 NA TRUE NA 0.003 0.278 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 1 NA TTC T,G 8.236e-06 21:37200225 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 splice_region_variant 0.01545 0.59299 0.22199 0.163922 0.4837435 0.0557263 5.394226e-20 FALSE 4.0662e-06 ENSE00002370861_004 ENSE00002370861 004 21 38572489 38572658 + 44 93 33 A T 38572529 146 41 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCTCAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200227 37200228 37200228 upstr_intron -4 -0.06818182 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCTCAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 651 1095 0.02045374 0.01369479 0.01707427 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.5986773 -0.7841696 0.8352595 0.7084977 NA -0.6914234 NA TRUE NA 0.835 0.251 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 1 NA CAC A,T 8.236e-06 21:37200228 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 splice_region_variant 0.366652 0.95711 0.51854 0.163922 0.6259725 0.129711 5.394226e-20 FALSE 2.03183e-05 ENSE00002370861_005 ENSE00002370861 005 21 38572489 38572658 + 44 93 33 C A 38572530 147 42 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCAAAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200228 37200229 37200229 upstr_intron -3 -0.04545455 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCAAAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 1103 259 0.01899335 0.001237226 0.01011529 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.6001377 -0.7966272 0.8352595 0.7084977 NA -0.6983824 NA TRUE NA 0.995 2.318 rs138963073 downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 rs138963073 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0003 ACA C,A 0.0003953 21:37200229 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 splice_region_variant 1.31739 0.9814 0.94847 0.163922 0.6933274 0.953092 5.394226e-20 FALSE 0.000467388 ENSE00002370861_006 ENSE00002370861 006 21 38572489 38572658 + 44 93 33 C T 38572534 148 46 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGTACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200232 37200233 37200233 exon 2 0.02150538 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGTACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 491 53 0.9979709 0.9633419 0.9806564 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.3788399 0.1654775 0.8352595 0.7084977 NA 0.2721587 NA FALSE NA 0.002 -0.238 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 1 NA GCA C,T 8.236e-06 21:37200233 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 1.221214 0.41314 0.08859 0.732398 0.9771496 0 5.394226e-20 FALSE 1.21866e-05 ENSE00002370861_007 ENSE00002370861 007 21 38572489 38572658 + 44 93 33 C G 38572543 149 55 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGGAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200241 37200242 37200242 exon 11 0.1182796 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGGAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 464 868 0.7622558 0.9355522 0.848904 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.1431248 0.1376878 0.8352595 0.7084977 NA 0.1404063 NA FALSE NA 0.003 0.664 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 1 NA GCA C,G 1.647e-05 21:37200242 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 0.023295 0.17907 0.10859 0.732398 0.7012501 0 5.394226e-20 FALSE 8.12301e-06 ENSE00002370861_011 ENSE00002370861 011 21 38572489 38572658 + 44 93 33 G A 38572566 153 78 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACAAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200264 37200265 37200265 exon 34 0.3655914 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACAAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 1547 332 0.1542664 0.1644609 0.1593637 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.4648646 -0.6334035 0.8352595 0.7084977 NA -0.549134 NA TRUE NA 0.109 0.832 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 COSM1030597 1 NA CGA G,A 2.471e-05 21:37200265 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 2.859542 0.24499 0.15689 0.732398 0.9886692 0 5.394226e-20 FALSE 1.21827e-05 ENSE00002370861_012 ENSE00002370861 012 21 38572489 38572658 + 44 93 33 G A 38572569 154 81 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGATGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200267 37200268 37200268 exon 37 0.3978495 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGATGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 2514 878 0.8067382 0.8760112 0.8413747 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.1876072 0.07814679 0.8352595 0.7084977 NA 0.132877 NA FALSE NA 0.003 0.301 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 1 NA GGT G,A 8.236e-06 21:37200268 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 1.949117 0.19404 0.10127 0.732398 0.9733304 0 5.394226e-20 FALSE 2.43647e-05 ENSE00002370861_013 ENSE00002370861 013 21 38572489 38572658 + 44 93 33 A C 38572576 155 88 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCACATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200274 37200275 37200275 exon 44 0.4731183 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCACATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 335 225 0.9706868 0.9747185 0.9727027 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.3515558 0.1768542 0.8352595 0.7084977 NA 0.264205 NA FALSE NA 0.995 3.179 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 1 NA AAA A,C 8.236e-06 21:37200275 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 4.580109 0.76938 0.93994 0.732398 0.996002 0 5.394226e-20 FALSE 4.06078e-06 ENSE00002370861_015 ENSE00002370861 015 21 38572489 38572658 + 44 93 33 G A 38572587 157 99 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACATGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200285 37200286 37200286 exon -39 0.5913978 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACATGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 1156 1393 0.0007792727 0.0002296026 0.0005044377 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.6183517 -0.7976348 0.8352595 0.7084977 NA -0.7079933 NA TRUE NA 0 -0.537 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 rs200071342 1 NA CGT G,A 7.413e-05 21:37200286 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 1.887511 0.14486 0.01805 0.732398 0.9817624 0 5.394226e-20 FALSE 6.90339e-05 ENSE00002370861_016 ENSE00002370861 016 21 38572489 38572658 + 44 93 33 G A 38572589 158 101 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTACGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200287 37200288 37200288 exon -37 0.6129032 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTACGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 344 1377 0 0.000367138 0.000183569 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.619131 -0.7974973 0.8352595 0.7084977 NA -0.7083141 NA TRUE NA 0.003 -0.412 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 COSM3841893 1 NA TGC G,A 8.236e-06 21:37200288 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 synonymous_variant 1.00507 0.16543 0.03961 0.732398 0.7461585 0 5.394226e-20 FALSE 4.06078e-06 ENSE00002370861_017 ENSE00002370861 017 21 38572489 38572658 + 44 93 33 C T 38572590 159 102 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGTGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200288 37200289 37200289 exon -36 0.6236559 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGTGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 242 44 0.04803851 0.05309113 0.05056482 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.5710925 -0.7447733 0.8352595 0.7084977 NA -0.6579329 NA TRUE NA 0.381 0.553 rs187599159 downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 rs187599159&COSM1230796 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 T:0.0002 T:0 GCG C,T 2.471e-05 21:37200289 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 4.059577 0.15505 0.03593 0.732398 0.9689021 0 5.394226e-20 FALSE 1.62446e-05 ENSE00002370861_018 ENSE00002370861 018 21 38572489 38572658 + 44 93 33 G A 38572591 160 103 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCATGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200289 37200290 37200290 exon -35 0.6344086 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCATGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 200 309 0.1400089 0.2791187 0.2095638 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.4791221 -0.5187457 0.8352595 0.7084977 NA -0.4989339 NA FALSE NA 0.98 4.955 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:37200290 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 5.470451 0.4069 0.90431 0.732398 0.9909184 0 5.394226e-20 FALSE 7.30959e-05 ENSE00002370861_019 ENSE00002370861 019 21 38572489 38572658 + 44 93 33 G T 38572591 161 103 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCTTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200289 37200290 37200290 exon -35 0.6344086 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCTTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 730 2020 0.02819239 0.001269151 0.01473077 0.8554805 0.8150385 0.619131 0.7978644 NA NA -0.5909386 -0.7965952 0.8352595 0.7084977 NA -0.6937669 NA TRUE NA 0.98 4.955 NA NA NA TTC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC3 NA NA NA ENSG00000182670 ENSE00003636513 missense_variant 3.897663 0.4155 0.91595 0.732398 0.9935328 0 5.394226e-20 FALSE 4.06088e-06 ENSE00002370861_020 ENSE00002370861 020 21 38572489 38572658 + 44 93 33 G T 38572593 162 105 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTTTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200291 37200292 37200292 exon -33 0.655914 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTTTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 132 197 0.801973 0.833265 0.817619 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.182842 0.03540058 0.8352595 0.7084977 NA 0.1091213 NA FALSE NA 0.986 3.412 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 rs555209200 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TGT G,T 8.236e-06 21:37200292 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 2.221555 0.25134 0.81054 0.732398 0.9794682 0 5.394226e-20 FALSE 4.06085e-06 ENSE00002370861_021 ENSE00002370861 021 21 38572489 38572658 + 44 93 33 A G 38572620 163 132 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACGAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200318 37200319 37200319 exon -6 0.9462366 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACGAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 1846 3703 0.8086939 0.8033895 0.8060417 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.1895629 0.005525099 0.8352595 0.7084977 NA 0.09754401 NA FALSE NA 1 3.095 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 1 NA CAA A,G 8.237e-06 21:37200319 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 missense_variant 5.732132 0.97156 0.95491 0.722319 0.9983528 0 5.394226e-20 FALSE 1.21854e-05 ENSE00002370861_022 ENSE00002370861 022 21 38572489 38572658 + 44 93 33 C T 38572633 164 145 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGTTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 37200331 37200332 37200332 downstr_intron 8 1.25 AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGTTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG mutant NA NA NA NA NA 2279 1073 0.9000193 0.9644925 0.9322559 0.8554805 0.8150385 0.619131 0.7978644 NA NA 0.2808883 0.1666281 0.8352595 0.7084977 NA 0.2237582 NA FALSE NA 0 -1.132 . downstream_gene_variant MODIFIER TTC3 HGNC 12393 ENST00000488522 rs201179611 1 NA GCT C,T 2.471e-05 21:37200332 TTC3 HGNC Symbol protein_coding 129886 ENSG00000182670 ENSE00003636513 splice_region_variant 0.272449 0.09422 0.00463 0.099367 0.6029972 0.0557263 5.394226e-20 FALSE 3.25751e-05 ENSE00002370861_BRK ENSE00002370861 BRK 21 38572489 38572658 + 44 93 33 A,G; T,T NA NA NA AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACTTGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGCCAAGAGCTCTTTTTGGCCATCCTTACAGCATG 37200187 37200357 NA NA NA NA NA NA AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACTTGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGCCAAGAGCTCTTTTTGGCCATCCTTACAGCATG AACTGTAGTTATTCTTTACTATTCAGGTGTGTTTGTTTCCACAGGCACTGGGTGCAAGTTCCTGTGAAATATGCCACGAGGTGTTCAAATCAAAAAACGTGCGTGTGCTCAAATGTGGGCACAAGTATCACAAAGGGGTAAGAGCTCTTTTTGGCCATCCTTACAGCATG control 26 66 0 0 0 1357 699 0.004234609 0.03279119 0.0185129 0.8554805 0.8150385 0.619131 0.7978644 -0.8554805 -0.8150385 -0.6148964 -0.7650732 0.8352595 0.7084977 -0.8352595 -0.6899848 0.1452747 TRUE TRUE NA NA NA NA NA TTC3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC3 NA NA NA ENSG00000182670 ENSE00003636513 NA NA NA NA NA NA NA 5.394226e-20 FALSE NA ENSE00002371189_000 ENSE00002371189 000 12 104054411 104054580 + 50 81 39 NA NA NA NA NA TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 NA NA NA NA NA NA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA natural 18 20 0.9995247 0.9951282 0.9973265 435 542 0.9093607 0.8606338 0.8849973 0.9995247 0.9951282 0.9093607 0.8606338 0 0 0 0 0.9973265 0.8849973 0 0 0 FALSE FALSE NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00002371189 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00002371189_001 ENSE00002371189 001 12 104054411 104054580 + 50 81 39 G A 104054421 2739 11 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGATCACACGCAGG 103660632 103660802 103660642 103660643 103660643 upstr_intron -40 -0.78 CCTGCGTGTGATCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 202 238 0.9983587 0.9915825 0.9949706 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.08899796 0.1309487 0.9973265 0.8849973 NA 0.1099733 NA FALSE NA 0 -0.277 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 16/68 1 NA GGT G,A 2.471e-05 12:103660643 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 intron_variant -0.148397 0.18473 0.03446 0.06567 0.3759342 0.0550493 4.175676e-28 FALSE 1.22062e-05 ENSE00002371189_003 ENSE00002371189 003 12 104054411 104054580 + 50 81 39 C G 104054425 2741 15 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTCGGACCACACGCAGG 103660632 103660802 103660646 103660647 103660647 upstr_intron -36 -0.7 CCTGCGTGTGGTCCGAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 168 287 0.9285843 0.9994485 0.9640164 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.01922364 0.1388147 0.9973265 0.8849973 NA 0.07901917 NA FALSE NA 0 0.028 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 16/68 1 NA CCA C,G 8.236e-06 12:103660647 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 intron_variant -0.151582 0.22216 0.07032 0.06567 0.4229533 0.0414318 4.175676e-28 FALSE 4.06785e-06 ENSE00002371189_006 ENSE00002371189 006 12 104054411 104054580 + 50 81 39 G T 104054443 2744 33 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAAAAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660664 103660665 103660665 upstr_intron -18 -0.34 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTTTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 284 234 0.9895853 0.968666 0.9791257 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.08022457 0.1080322 0.9973265 0.8849973 NA 0.09412838 NA FALSE NA 0 -0.302 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 16/68 1 NA TGT G,T 8.236e-06 12:103660665 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 intron_variant 0.669628 0.9589 0.20113 0.06567 0.487231 0.687034 4.175676e-28 FALSE 4.0622e-06 ENSE00002371189_007 ENSE00002371189 007 12 104054411 104054580 + 50 81 39 C T 104054446 2745 36 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAAAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660667 103660668 103660668 upstr_intron -15 -0.28 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTTTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 34 143 1 1 1 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.09063929 0.1393662 0.9973265 0.8849973 NA 0.1150027 NA FALSE NA 0 -0.924 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 16/68 1 NA TCT C,T 8.236e-06 12:103660668 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 intron_variant 0.245151 0.1823 0.00906 0.06567 0.5420052 0.102143 4.175676e-28 FALSE 4.06197e-06 ENSE00002371189_008 ENSE00002371189 008 12 104054411 104054580 + 50 81 39 T A 104054447 2746 37 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGTGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660668 103660669 103660669 upstr_intron -14 -0.26 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCACTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 948 36 0.9996957 0.9955812 0.9976385 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.09033502 0.1349474 0.9973265 0.8849973 NA 0.1126412 NA FALSE NA 0.84 2.195 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 16/68 rs374848555 1 NA A:0.0005 A:0.001 CTC T,A 0.0004118 12:103660669 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 intron_variant 0.359268 0.32933 0.25869 0.06567 0.7401175 0.104768 4.175676e-28 FALSE 0.000458969 ENSE00002371189_009 ENSE00002371189 009 12 104054411 104054580 + 50 81 39 C G 104054476 2747 66 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGACAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660697 103660698 103660698 exon 16 0.1975309 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTGTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 280 400 0.9965697 0.9833572 0.9899634 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.08720899 0.1227234 0.9973265 0.8849973 NA 0.1049662 NA FALSE NA 0.977 3.237 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 17/69 1 deleterious(0) possibly_damaging(0.544) NA TCT C,G 5.765e-05 12:103660698 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 missense_variant 4.353743 0.90854 0.82959 0.487112 0.9955398 0 4.175676e-28 FALSE 2.8428e-05 ENSE00002371189_010 ENSE00002371189 010 12 104054411 104054580 + 50 81 39 A G 104054479 2748 69 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGACGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660700 103660701 103660701 exon 19 0.2345679 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCGTCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 190 341 0.9910009 0.9904645 0.9907327 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.08164024 0.1298307 0.9973265 0.8849973 NA 0.1057354 NA FALSE NA 0.14 0.041 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 17/69 1 tolerated(0.66) benign(0.024) NA CAT A,G 8.236e-06 12:103660701 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 missense_variant -0.654448 0.92303 0.11385 0.487112 0.6083203 0 4.175676e-28 FALSE 4.06101e-06 ENSE00002371189_012 ENSE00002371189 012 12 104054411 104054580 + 50 81 39 C G 104054486 2750 76 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGCTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660707 103660708 103660708 exon 26 0.3209877 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCAGCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 50 436 1 1 1 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.09063929 0.1393662 0.9973265 0.8849973 NA 0.1150027 NA FALSE NA 0.002 0.467 rs150542482 missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 17/69 rs150542482 1 tolerated(0.55) benign(0.071) NA G:0 G:0.0001 ACC C,G 1.647e-05 12:103660708 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 missense_variant -0.664907 0.22448 0.04965 0.487112 0.5763804 0 4.175676e-28 FALSE 8.12183e-06 ENSE00002371189_015 ENSE00002371189 015 12 104054411 104054580 + 50 81 39 G C 104054506 2753 96 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCTGGTTGGGCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660727 103660728 103660728 exon -36 0.5679012 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGCCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 160 144 1 0.9967395 0.9983697 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.09063929 0.1361056 0.9973265 0.8849973 NA 0.1133725 NA FALSE NA 1 5.549 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 17/69 1 deleterious(0) probably_damaging(0.997) NA GGC G,C 8.236e-06 12:103660728 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 missense_variant 5.994999 0.99242 0.97228 0.487112 0.9980483 0 4.175676e-28 FALSE 4.06101e-06 ENSE00002371189_016 ENSE00002371189 016 12 104054411 104054580 + 50 81 39 A G 104054513 2754 103 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGAGCCGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660734 103660735 103660735 exon -29 0.654321 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCGGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 19 69 1 1 1 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.09063929 0.1393662 0.9973265 0.8849973 NA 0.1150027 NA FALSE NA 1 6.932 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 17/69 rs562986267 1 deleterious(0) probably_damaging(0.998) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAG A,G 8.236e-06 12:103660735 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 missense_variant 5.08025 0.98924 0.97815 0.487112 0.9984411 0 4.175676e-28 FALSE 4.06118e-06 ENSE00002371189_017 ENSE00002371189 017 12 104054411 104054580 + 50 81 39 C G 104054515 2755 105 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTGAACTGTATGACCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660736 103660737 103660737 exon -27 0.6790123 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGGTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 955 248 0.9505365 1 0.9752683 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.04117582 0.1393662 0.9973265 0.8849973 NA 0.09027099 NA FALSE NA 0.99 -0.046 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 17/69 rs368992908 1 tolerated(0.43) benign(0.011) NA G:0.0002 G:0 GCT C,G 2.471e-05 12:103660737 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 missense_variant -1.645527 0.90144 0.37034 0.487112 0.5861217 0 4.175676e-28 FALSE 1.62448e-05 ENSE00002371189_018 ENSE00002371189 018 12 104054411 104054580 + 50 81 39 C T 104054526 2756 116 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTGTTAAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660747 103660748 103660748 exon -16 0.8148148 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTTAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 96 91 1 1 1 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.09063929 0.1393662 0.9973265 0.8849973 NA 0.1150027 NA FALSE NA 1 0.876 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 17/69 rs373309541 1 NA T:0.0002 T:0 TCA C,T 1.647e-05 12:103660748 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 synonymous_variant 0.239515 0.94076 0.13224 0.487112 0.5467799 0 4.175676e-28 FALSE 8.12321e-06 ENSE00002371189_019 ENSE00002371189 019 12 104054411 104054580 + 50 81 39 C T 104054529 2757 119 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCGGTGGTATTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660750 103660751 103660751 exon -13 0.8518519 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAATACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 62 49 1 1 1 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.09063929 0.1393662 0.9973265 0.8849973 NA 0.1150027 NA FALSE NA 0.99 0.957 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 17/69 rs376446055 1 NA T:0 T:0.0001 ACA C,T 1.647e-05 12:103660751 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 synonymous_variant 0.165507 0.97467 0.76353 0.487112 0.4810578 0 4.175676e-28 FALSE 1.21851e-05 ENSE00002371189_020 ENSE00002371189 020 12 104054411 104054580 + 50 81 39 C T 104054535 2758 125 TGTTCAAGTGATGCTGGTGGTGGTTGAGTTTTCACTTACATTGTCAGTGGTGTTGAACTGTATGAGCTGGTTGGCCATGCTCCTGATGTGAGGGGTGGAGATGAGAGTGGCCACTTCAAGCTGCAATAAGAAGAGAACAAAAGGCAGAGATATTTGGGACCACACGCAGG 103660632 103660802 103660756 103660757 103660757 exon -7 0.9259259 CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACTGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA CCTGCGTGTGGTCCCAAATATCTCTGCCTTTTGTTCTCTTCTTATTGCAGCTTGAAGTGGCCACTCTCATCTCCACCCCTCACATCAGGAGCATGGCCAACCAGCTCATACAGTTCAACACCACCGACAATGTAAGTGAAAACTCAACCACCACCAGCATCACTTGAACA mutant NA NA NA NA NA 220 84 0.9975425 1 0.9987713 0.9995247 0.9951282 0.9093607 0.8606338 NA NA 0.08818181 0.1393662 0.9973265 0.8849973 NA 0.113774 NA FALSE NA 0 -0.309 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 17/69 1 NA CCG C,T 8.236e-06 12:103660757 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002371189 synonymous_variant 1.188944 0.20978 0.03911 0.487112 0.6075802 0 4.175676e-28 FALSE 4.06174e-06 ENSE00002371235_000 ENSE00002371235 000 12 121593826 121593995 + 56 69 45 NA NA NA NA NA TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 NA NA NA NA NA NA TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT natural NA NA NA NA NA 966 2211 0.9918688 0.9949515 0.9934101 NA NA 0.9918688 0.9949515 NA NA 0 0 NA 0.9934101 NA 0 NA FALSE NA NA NA NA NA NA P2RX7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA P2RX7 NA NA NA ENSG00000089041 ENSE00003604064 NA NA NA NA NA NA NA 3.789699e-06 FALSE NA ENSE00002371235_001 ENSE00002371235 001 12 121593826 121593995 + 56 69 45 G C 121593847 3593 22 TTAAGTAGTTCTCTTTTCAAACGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156043 121156044 121156044 upstr_intron -35 -0.6071429 TTAAGTAGTTCTCTTTTCAAACGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 204 33 1 1 1 NA NA 0.9918688 0.9949515 NA NA 0.008131208 0.005048504 NA 0.9934101 NA 0.006589856 NA FALSE NA 0.159 0.716 rs186332279 intron_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 3/12 rs186332279 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AGG G,C 4.118e-05 12:121156044 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 intron_variant 0.396122 0.18451 0.11989 0.078448 0.736497 0.134939 3.789699e-06 FALSE 4.06964e-05 ENSE00002371235_002 ENSE00002371235 002 12 121593826 121593995 + 56 69 45 C A 121593865 3594 40 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGACTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156061 121156062 121156062 upstr_intron -17 -0.2857143 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGACTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 366 147 1 1 1 NA NA 0.9918688 0.9949515 NA NA 0.008131208 0.005048504 NA 0.9934101 NA 0.006589856 NA FALSE NA 0 0.151 . intron_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 3/12 1 NA GCC C,A 8.236e-06 12:121156062 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 intron_variant -0.23932 0.15104 0.07434 0.078448 0.3410417 0.0484198 3.789699e-06 FALSE 1.21889e-05 ENSE00002371235_003 ENSE00002371235 003 12 121593826 121593995 + 56 69 45 C T 121593866 3595 41 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCTTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156062 121156063 121156063 upstr_intron -16 -0.2678571 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCTTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 26 225 1 1 1 NA NA 0.9918688 0.9949515 NA NA 0.008131208 0.005048504 NA 0.9934101 NA 0.006589856 NA FALSE NA 0 -1.091 . intron_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 3/12 1 NA CCT C,T 8.236e-06 12:121156063 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 intron_variant -0.145957 0.15507 0.00471 0.078448 0.3766993 0.0484198 3.789699e-06 FALSE 8.12519e-06 ENSE00002371235_007 ENSE00002371235 007 12 121593826 121593995 + 56 69 45 T C 121593890 3599 65 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCCTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156086 121156087 121156087 exon 9 0.1304348 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCCTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 1054 300 0.9551034 1 0.9775517 NA NA 0.9918688 0.9949515 NA NA -0.03676537 0.005048504 NA 0.9934101 NA -0.01585844 NA FALSE NA 0.717 -0.624 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 1 NA CTT T,C 8.236e-06 12:121156087 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant -0.401897 0.9271 0.08424 0.516011 0.997293 0 3.789699e-06 FALSE 4.06114e-06 ENSE00002371235_009 ENSE00002371235 009 12 121593826 121593995 + 56 69 45 C T 121593896 3601 71 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTTGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156092 121156093 121156093 exon 15 0.2173913 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTTGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 137 367 1 0.8590585 0.9295292 NA NA 0.9918688 0.9949515 NA NA 0.008131208 -0.135893 NA 0.9934101 NA -0.0638809 NA FALSE NA 0.933 -0.266 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 1 NA TCG C,T 8.236e-06 12:121156093 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 2.172064 0.92171 0.09691 0.516011 0.993942 0 3.789699e-06 FALSE 4.06118e-06 ENSE00002371235_010 ENSE00002371235 010 12 121593826 121593995 + 56 69 45 G A 121593897 3602 72 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCATGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156093 121156094 121156094 exon 16 0.2318841 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCATGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 80 589 0.996872 0.987998 0.992435 NA NA 0.9918688 0.9949515 NA NA 0.005003205 -0.006953479 NA 0.9934101 NA -0.0009751366 NA FALSE NA 1 2.337 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 rs201028203 1 NA CGT G,A 8.236e-06 12:121156094 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 6.016675 0.96664 0.80069 0.516011 0.998218 0 3.789699e-06 FALSE 8.12203e-06 ENSE00002371235_011 ENSE00002371235 011 12 121593826 121593995 + 56 69 45 A G 121593900 3603 75 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGGTGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156096 121156097 121156097 exon 19 0.2753623 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGGTGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 20 456 0.8 0.9922921 0.896146 NA NA 0.9918688 0.9949515 NA NA -0.1918688 -0.002659428 NA 0.9934101 NA -0.09726411 NA FALSE NA 1 2.735 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 1 NA GAT A,G 8.236e-06 12:121156097 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 stop_lost 1.754894 0.97504 0.84355 0.516011 0.758988 0 3.789699e-06 FALSE 4.06114e-06 ENSE00002371235_013 ENSE00002371235 013 12 121593826 121593995 + 56 69 45 T C 121593909 3605 84 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACCTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156105 121156106 121156106 exon 28 0.4057971 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACCTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 19 56 1 1 1 NA NA 0.9918688 0.9949515 NA NA 0.008131208 0.005048504 NA 0.9934101 NA 0.006589856 NA FALSE NA 1 1.742 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 1 NA CTT T,C 8.236e-06 12:121156106 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 1.805498 0.97425 0.76061 0.616025 0.9972817 0 3.789699e-06 FALSE 8.12222e-06 ENSE00002371235_014 ENSE00002371235 014 12 121593826 121593995 + 56 69 45 T G 121593913 3606 88 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCGCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156109 121156110 121156110 exon 32 0.4637681 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCGCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 117 180 1 0.996984 0.998492 NA NA 0.9918688 0.9949515 NA NA 0.008131208 0.002032509 NA 0.9934101 NA 0.005081859 NA FALSE NA 1 4.703 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 1 NA CTC T,G 8.236e-06 12:121156110 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 5.98813 0.97501 0.92151 0.616025 0.995132 0 3.789699e-06 FALSE 8.12236e-06 ENSE00002371235_016 ENSE00002371235 016 12 121593826 121593995 + 56 69 45 G A 121593924 3608 99 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAAGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156120 121156121 121156121 exon -27 0.6231884 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAAGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 123 329 1 1 1 NA NA 0.9918688 0.9949515 NA NA 0.008131208 0.005048504 NA 0.9934101 NA 0.006589856 NA FALSE NA 1 3.834 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 1 NA AGG G,A 8.236e-06 12:121156121 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 4.583458 0.97789 0.80929 0.616025 0.9987374 0 3.789699e-06 FALSE 8.12308e-06 ENSE00002371235_018 ENSE00002371235 018 12 121593826 121593995 + 56 69 45 A G 121593928 3610 103 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCGAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156124 121156125 121156125 exon -23 0.6811594 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCGAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 670 97 0.9980177 0.9980139 0.9980158 NA NA 0.9918688 0.9949515 NA NA 0.006148928 0.003062366 NA 0.9934101 NA 0.004605647 NA FALSE NA 0.998 5.432 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 1 NA CAA A,G 8.236e-06 12:121156125 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 5.235849 0.96785 0.93596 0.616025 0.9979409 0 3.789699e-06 FALSE 4.06154e-06 ENSE00002371235_019 ENSE00002371235 019 12 121593826 121593995 + 56 69 45 C T 121593936 3611 111 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGTGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156132 121156133 121156133 exon -15 0.7971014 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGTGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 45 28 1 1 1 NA NA 0.9918688 0.9949515 NA NA 0.008131208 0.005048504 NA 0.9934101 NA 0.006589856 NA FALSE NA 0.003 -0.106 rs28360445 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 rs28360445&CM109083 1 T:0.0010 T:0 T:0.0043 NA T:0 T:0.002 T:0 T:0.0005 T:0.002 GCG C,T 0.00126 12:121156133 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 5.051859 0.16408 0.01959 0.616025 0.974399 0 3.789699e-06 FALSE 0.00124292 ENSE00002371235_020 ENSE00002371235 020 12 121593826 121593995 + 56 69 45 G A 121593937 3612 112 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCAGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156133 121156134 121156134 exon -14 0.8115942 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCAGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 223 29 1 0.8 0.9 NA NA 0.9918688 0.9949515 NA NA 0.008131208 -0.1949515 NA 0.9934101 NA -0.09341014 NA FALSE NA 0.001 0.244 rs146441492 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 rs146441492&COSM3457129 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0023 A:0 CGG G,A 0.0002224 12:121156134 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 1.776281 0.17272 0.04024 0.616025 0.9835836 0 3.789699e-06 FALSE 0.000211221 ENSE00002371235_021 ENSE00002371235 021 12 121593826 121593995 + 56 69 45 C T 121593947 3613 122 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCTGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156143 121156144 121156144 exon -4 0.9565217 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCTGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 447 279 1 0.9699409 0.9849704 NA NA 0.9918688 0.9949515 NA NA 0.008131208 -0.02501064 NA 0.9934101 NA -0.008439718 NA FALSE NA 0 -5.703 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/13 rs371596167 1 NA T:0 T:0.0001 CCG C,T 5.765e-05 12:121156144 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 synonymous_variant 0.682324 0.05426 0.00156 0.616025 0.6000295 0 3.789699e-06 FALSE 3.25084e-05 ENSE00002371235_022 ENSE00002371235 022 12 121593826 121593995 + 56 69 45 G A 121593948 3614 123 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCAAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156144 121156145 121156145 exon -3 0.9710145 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCAAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 1922 37 0.9936914 0.9957013 0.9946964 NA NA 0.9918688 0.9949515 NA NA 0.001822656 0.0007498269 NA 0.9934101 NA 0.001286241 NA FALSE NA 0.996 3.031 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW P2RX7 HGNC 8537 ENST00000539606 4/13 1 NA CGA G,A 1.647e-05 12:121156145 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 missense_variant 6.256435 0.975 0.87239 0.616025 0.998948 0 3.789699e-06 FALSE 1.21906e-05 ENSE00002371235_023 ENSE00002371235 023 12 121593826 121593995 + 56 69 45 C T 121593964 3615 139 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACTTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT 121156022 121156192 121156160 121156161 121156161 downstr_intron 14 1.318182 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACTTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 1077 364 0.9996939 1 0.999847 NA NA 0.9918688 0.9949515 NA NA 0.007825118 0.005048504 NA 0.9934101 NA 0.006436811 NA FALSE NA 0 -0.145 . intron_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/12 rs202063886 1 NA T:0.0002 T:0 CCT C,T 8.236e-06 12:121156161 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 intron_variant 0.032447 0.13725 0.02353 0.087844 0.6382201 0.0469784 3.789699e-06 FALSE 8.13378e-06 ENSE00002371235_024 ENSE00002371235 024 12 121593826 121593995 + 56 69 45 T G 121593984 3616 159 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCGTAAGAGTTCCT 121156022 121156192 121156180 121156181 121156181 downstr_intron 34 1.772727 TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCGTAAGAGTTCCT TTAAGTAGTTCTCTTTTCAAAGGCCTTGCATTTTCTTAGCCTCTCCTTCTCCACAGGGGAACTCTTTCTTCGTGATGACAAACTTTCTCAAAACAGAAGGCCAAGAGCAGCGGTTGTGTCCCGAGGTAAGGAGGGGACCTGGAGTGGTGGGTCAGGTCTTAAGAGTTCCT mutant NA NA NA NA NA 31 184 1 1 1 NA NA 0.9918688 0.9949515 NA NA 0.008131208 0.005048504 NA 0.9934101 NA 0.006589856 NA FALSE NA 0 -1.391 rs113367055 intron_variant&NMD_transcript_variant MODIFIER P2RX7 HGNC 8537 ENST00000539606 4/12 rs113367055 1 G:0.0036 G:0.0136 G:0 NA G:0 G:0 G:0 G:0.0109 G:0.0001 CTT G,G 0.0008401 12:121156181 P2RX7 HGNC Symbol protein_coding 55213 ENSG00000089041 ENSE00003604064 intron_variant 0.054146 0.04831 0.00229 0.087844 0.5331327 0.0477224 3.789699e-06 FALSE 0.000711854 ENSE00002371248_000 ENSE00002371248 000 6 36945813 36945982 - 41 78 51 NA NA NA NA NA TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG 36978036 36978206 NA NA NA NA NA NA TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG natural 49 83 0.9946109 0.9873582 0.9909845 586 1071 0.9989418 0.9961411 0.9975414 0.9946109 0.9873582 0.9989418 0.9961411 0 0 0 0 0.9909845 0.9975414 0 0 0 FALSE FALSE NA NA NA NA NA MTCH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MTCH1 NA NA NA ENSG00000137409 ENSE00002495354 NA NA NA NA NA NA NA 0.9648789 TRUE NA ENSE00002371248_003 ENSE00002371248 003 6 36945813 36945982 - 41 78 51 C T 36945831 1159 152 TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGAGAGAGGTGCGTGGAGGGG 36978036 36978206 36978054 36978055 36978055 downstr_intron 23 1.575 TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGAGAGAGGTGCGTGGAGGGG TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG mutant NA NA NA NA NA 62 151 1 1 1 0.9946109 0.9873582 0.9989418 0.9961411 NA NA 0.001058203 0.003858949 0.9909845 0.9975414 NA 0.002458576 NA FALSE NA 0.001 1.598 . intron_variant MODIFIER MTCH1 HGNC 17586 ENST00000373627 4/11 1 NA CCC C,T 8.236e-06 6:36978055 MTCH1 HGNC Symbol protein_coding 18157 ENSG00000137409 ENSE00002495354 intron_variant 0.676457 0.44606 0.28319 0.283894 0.7329666 0.900596 0.9648789 TRUE NA ENSE00002371248_005 ENSE00002371248 005 6 36945813 36945982 - 41 78 51 C A 36945840 1161 143 TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGATTTGGAGAGGGAGAGGTGCGTGGAGGGG 36978036 36978206 36978063 36978064 36978064 downstr_intron 14 1.35 TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGATTTGGAGAGGGAGAGGTGCGTGGAGGGG TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG mutant NA NA NA NA NA 102 52 1 1 1 0.9946109 0.9873582 0.9989418 0.9961411 NA NA 0.001058203 0.003858949 0.9909845 0.9975414 NA 0.002458576 NA FALSE NA 0 -3.496 NA NA NA MTCH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:36978064 MTCH1 HGNC Symbol protein_coding 18157 ENSG00000137409 ENSE00002495354 intron_variant 0.241811 0.13698 0.05628 0.283894 0.3920616 0.0531445 0.9648789 TRUE 8.12222e-06 ENSE00002371248_013 ENSE00002371248 013 6 36945813 36945982 - 41 78 51 C T 36945910 1169 73 TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTAAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG 36978036 36978206 36978133 36978134 36978134 exon 22 0.2820513 TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTAAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG mutant NA NA NA NA NA 16 242 1 0.9984117 0.9992059 0.9946109 0.9873582 0.9989418 0.9961411 NA NA 0.001058203 0.002270684 0.9909845 0.9975414 NA 0.001664444 NA FALSE NA 0.999 5.738 . missense_variant MODERATE MTCH1 HGNC 17586 ENST00000373627 4/12 rs371851816 1 tolerated(0.06) benign(0.256) NA T:0.0002 T:0 TCA C,T 8.236e-06 6:36978134 MTCH1 HGNC Symbol protein_coding 18157 ENSG00000137409 ENSE00002495354 missense_variant 4.370092 0.95507 0.9802 0.706548 0.9979525 0 0.9648789 TRUE 4.06072e-06 ENSE00002371248_016 ENSE00002371248 016 6 36945813 36945982 - 41 78 51 G A 36945945 1172 38 TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCTTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG 36978036 36978206 36978168 36978169 36978169 upstr_intron -14 -0.254902 TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCTTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG mutant NA NA NA NA NA 55 62 0.9647691 1 0.9823846 0.9946109 0.9873582 0.9989418 0.9961411 NA NA -0.03417269 0.003858949 0.9909845 0.9975414 NA -0.01515687 NA FALSE NA 0 -1.649 rs144519586 intron_variant MODIFIER MTCH1 HGNC 17586 ENST00000373627 3/11 rs144519586 1 A:0.0036 A:0 A:0.0029 NA A:0 A:0.0099 A:0.0061 A:0.0034 A:0.0117 AGG G,A 0.007569 6:36978169 MTCH1 HGNC Symbol protein_coding 18157 ENSG00000137409 ENSE00002495354 intron_variant 0.114168 0.22165 0.11273 0.075938 0.3590284 0.0668432 0.9648789 TRUE 0.00802167 ENSE00002371248_017 ENSE00002371248 017 6 36945813 36945982 - 41 78 51 C T 36945967 1173 16 TTCCATGGAAGAGGCATAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG 36978036 36978206 36978190 36978191 36978191 upstr_intron -36 -0.6862745 TTCCATGGAAGAGGCATAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG TTCCATGGAAGAGGCGTAGCTGAACTTGGTTCTTTCCCTTCTCTGTTTCAGGTTTTCCCTCCAGATGAGATTGAGCAGGTTTCCAACAAGGATGATATGAAGACTTCCCTGAAGAAAGTTGTGAAGGAGGTGGGTGTTGAGAGTTGGAGAGGGAGAGGTGCGTGGAGGGG mutant NA NA NA NA NA 86 109 0.9849075 1 0.9924538 0.9946109 0.9873582 0.9989418 0.9961411 NA NA -0.01403429 0.003858949 0.9909845 0.9975414 NA -0.005087669 NA FALSE NA 0 -2.593 . intron_variant MODIFIER MTCH1 HGNC 17586 ENST00000373627 3/11 1 NA ACG C,T 8.237e-06 6:36978191 MTCH1 HGNC Symbol protein_coding 18157 ENSG00000137409 ENSE00002495354 intron_variant -0.185864 0.13098 0.01331 0.075938 0.7048368 0.0490607 0.9648789 TRUE 1.22066e-05 ENSE00002371297_000 ENSE00002371297 000 3 185998417 185998586 - 42 75 53 NA NA NA NA NA GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 NA NA NA NA NA NA GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT natural 127 148 0.9359895 0.8751557 0.9055726 1858 2026 0.9030738 0.7772886 0.8401812 0.9359895 0.8751557 0.9030738 0.7772886 0 0 0 0 0.9055726 0.8401812 0 0 0 FALSE FALSE NA NA NA NA NA DGKG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKG NA NA NA ENSG00000058866 ENSE00003541028 NA NA NA NA NA NA NA 5.438214e-06 FALSE NA ENSE00002371297_001 ENSE00002371297 001 3 185998417 185998586 - 42 75 53 A C 185998441 4068 146 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGAGGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280651 186280652 186280652 downstr_intron 18 1.439024 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGAGGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 98 435 0.9944097 1 0.9972048 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.09133584 0.2227114 0.9055726 0.8401812 NA 0.1570236 NA FALSE NA 0 -1.357 . intron_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 8/23 1 NA CAT A,C 8.236e-06 3:186280652 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 intron_variant -0.442082 0.11312 0.01983 0.093295 0.4360865 0.0832456 5.438214e-06 FALSE 8.13292e-06 ENSE00002371297_002 ENSE00002371297 002 3 185998417 185998586 - 42 75 53 T C 185998448 4069 139 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTGTAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280658 186280659 186280659 downstr_intron 11 1.268293 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTGTAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 274 792 0.9955612 0.9997521 0.9976567 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.09248739 0.2224635 0.9055726 0.8401812 NA 0.1574754 NA FALSE NA 0 -1.76 . intron_variant MODIFIER DGKG HGNC 2853 ENST00000544847 8/22 rs545411725 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATA T,C 3.295e-05 3:186280659 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 intron_variant -0.226111 0.14062 0.01276 0.093295 0.3623506 0.111679 5.438214e-06 FALSE 2.43924e-05 ENSE00002371297_004 ENSE00002371297 004 3 185998417 185998586 - 42 75 53 A G 185998459 4071 128 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCCGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280669 186280670 186280670 exon -1 1 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCCGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 1107 1605 0.9941848 0.9993572 0.996771 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.09111097 0.2220686 0.9055726 0.8401812 NA 0.1565898 NA FALSE NA 0.908 0.134 . splice_region_variant&synonymous_variant LOW DGKG HGNC 2853 ENST00000544847 8/23 1 NA CAG A,G 8.236e-06 3:186280670 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 splice_region_variant 0.541399 0.96807 0.70114 0.497415 0.6969645 0 5.438214e-06 FALSE NA ENSE00002371297_005 ENSE00002371297 005 3 185998417 185998586 - 42 75 53 G A 185998460 4072 127 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCTTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280670 186280671 186280671 exon -2 0.9866667 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCTTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 174 491 1 0.9976403 0.9988202 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.09692615 0.2203517 0.9055726 0.8401812 NA 0.1586389 NA FALSE NA 1 8.762 . missense_variant&splice_region_variant MODERATE DGKG HGNC 2853 ENST00000544847 8/23 rs201806224 1 probably_damaging(0.999) NA A:0 A:0.0001 AGG G,A 4.942e-05 3:186280671 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 missense_variant 5.700693 0.99546 0.98749 0.497415 0.9985327 0 5.438214e-06 FALSE 5.28206e-05 ENSE00002371297_006 ENSE00002371297 006 3 185998417 185998586 - 42 75 53 C G 185998480 4073 107 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGCGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280690 186280691 186280691 exon -22 0.72 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGCGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 73 34 0.9599038 0.9839864 0.9719451 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.05682992 0.2066977 0.9055726 0.8401812 NA 0.1317638 NA FALSE NA 1 6.953 . missense_variant MODERATE DGKG HGNC 2853 ENST00000544847 8/23 1 probably_damaging(0.999) NA CCC C,G 8.236e-06 3:186280691 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 missense_variant 6.044735 0.99506 0.98176 0.497415 0.9908621 0 5.438214e-06 FALSE 1.62477e-05 ENSE00002371297_007 ENSE00002371297 007 3 185998417 185998586 - 42 75 53 C T 185998483 4074 104 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAATGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280693 186280694 186280694 exon -25 0.68 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAATGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 461 522 0.818487 1 0.9092435 0.9359895 0.8751557 0.9030738 0.7772886 NA NA -0.08458688 0.2227114 0.9055726 0.8401812 NA 0.06906224 NA FALSE NA 0.976 -0.067 . synonymous_variant LOW DGKG HGNC 2853 ENST00000544847 8/23 1 NA ACT C,T 8.236e-06 3:186280694 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 synonymous_variant 0.864555 0.79276 0.34146 0.497415 0.4243815 0 5.438214e-06 FALSE 4.06184e-06 ENSE00002371297_009 ENSE00002371297 009 3 185998417 185998586 - 42 75 53 G T 185998488 4076 99 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACATGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280698 186280699 186280699 exon -30 0.6133333 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACATGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 259 129 0.9905761 0.9951357 0.9928559 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.0875023 0.217847 0.9055726 0.8401812 NA 0.1526747 NA FALSE NA 1 4.757 . missense_variant MODERATE DGKG HGNC 2853 ENST00000544847 8/23 1 probably_damaging(0.999) NA AGG G,T 8.236e-06 3:186280699 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 missense_variant 4.471847 0.98516 0.95172 0.497415 0.995334 0 5.438214e-06 FALSE 4.06197e-06 ENSE00002371297_010 ENSE00002371297 010 3 185998417 185998586 - 42 75 53 A G 185998491 4077 96 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGCACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280701 186280702 186280702 exon -33 0.5733333 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGCACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 425 588 0.9988322 0.9948549 0.9968435 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.09575834 0.2175662 0.9055726 0.8401812 NA 0.1566623 NA FALSE NA 1 8.294 . missense_variant MODERATE DGKG HGNC 2853 ENST00000544847 8/23 1 probably_damaging(0.999) NA TAC A,G 8.236e-06 3:186280702 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 missense_variant 5.033228 0.99334 0.98461 0.497415 0.9981855 0 5.438214e-06 FALSE 4.06177e-06 ENSE00002371297_011 ENSE00002371297 011 3 185998417 185998586 - 42 75 53 C A 185998497 4078 90 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTTCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280707 186280708 186280708 exon 37 0.4933333 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTTCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 372 40 0.8097164 1 0.9048582 0.9359895 0.8751557 0.9030738 0.7772886 NA NA -0.09335742 0.2227114 0.9055726 0.8401812 NA 0.06467697 NA FALSE NA 1 6.953 . missense_variant MODERATE DGKG HGNC 2853 ENST00000544847 8/23 rs377678445 1 probably_damaging(0.998) NA A:0 A:0.0001 GCA C,A 8.236e-06 3:186280708 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 missense_variant 5.557984 0.99499 0.98075 0.497415 0.9960589 0 5.438214e-06 FALSE 4.062e-06 ENSE00002371297_012 ENSE00002371297 012 3 185998417 185998586 - 42 75 53 C T 185998504 4079 83 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTACATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280714 186280715 186280715 exon 30 0.4 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTACATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 990 925 0.9768198 0.9570321 0.966926 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.073746 0.1797434 0.9055726 0.8401812 NA 0.1267447 NA FALSE NA 0.01 -1.617 . synonymous_variant LOW DGKG HGNC 2853 ENST00000544847 8/23 1 NA GCA C,T 8.236e-06 3:186280715 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 synonymous_variant 0.781709 0.95287 0.09326 0.516011 0.4343611 0 5.438214e-06 FALSE 8.12433e-06 ENSE00002371297_014 ENSE00002371297 014 3 185998417 185998586 - 42 75 53 A G 185998519 4081 68 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATCGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280729 186280730 186280730 exon 15 0.2 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATCGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 222 1906 0.9992561 0.998506 0.9988811 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.09618228 0.2212174 0.9055726 0.8401812 NA 0.1586998 NA FALSE NA 1 0.325 . synonymous_variant LOW DGKG HGNC 2853 ENST00000544847 8/23 1 NA CAA A,G 8.236e-06 3:186280730 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 synonymous_variant -0.383147 0.95512 0.42278 0.516011 0.5523382 0 5.438214e-06 FALSE 4.06279e-06 ENSE00002371297_016 ENSE00002371297 016 3 185998417 185998586 - 42 75 53 C T 185998527 4083 60 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGAATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 186280737 186280738 186280738 exon 7 0.09333333 GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGAATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT mutant NA NA NA NA NA 1196 604 0.9614215 0.9783288 0.9698751 0.9359895 0.8751557 0.9030738 0.7772886 NA NA 0.05834765 0.2010401 0.9055726 0.8401812 NA 0.1296939 NA FALSE NA 1 6.953 rs141011129 missense_variant MODERATE DGKG HGNC 2853 ENST00000544847 8/23 rs141011129 1 probably_damaging(0.972) NA T:0 T:0.0001 TCC C,T 8.236e-06 3:186280738 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003541028 missense_variant 6.012963 0.99478 0.9765 0.516011 0.9985561 0 5.438214e-06 FALSE 4.06339e-06 ENSE00002371297_BRK ENSE00002371297 BRK 3 185998417 185998586 - 42 75 53 A,G; T,T NA NA NA GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTTTGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTCCGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT 186280627 186280797 NA NA NA NA NA NA GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTTTGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTCCGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT GACACATCTCTGGTTGTCTCCTTTTGATATTTTCTCCCTTTGCTATTTTCTAGGAGATGGATTGCATTGTCAACCAAATGCTGCATATTGCCCAGTACCTGGAGTGGGATCCCACAGAGCTGAGGCCTGTGAGTTTCTATAAGGATGGGGTGGCTTTGGAGTGAGCTTCT control 526 131 0 0.1463254 0.0731627 143 165 0 0 0 0.9359895 0.8751557 0.9030738 0.7772886 -0.9359895 -0.7288303 -0.9030738 -0.7772886 0.9055726 0.8401812 -0.8324099 -0.8401812 0.007771351 TRUE TRUE NA NA NA NA NA DGKG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKG NA NA NA ENSG00000058866 ENSE00003541028 NA NA NA NA NA NA NA 5.438214e-06 FALSE NA ENSE00002371836_000 ENSE00002371836 000 3 135975341 135975510 + 56 69 45 NA NA NA NA NA CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 NA NA NA NA NA NA CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG natural NA NA NA NA NA 1341 444 0.930138 0.9981587 0.9641483 NA NA 0.930138 0.9981587 NA NA 0 0 NA 0.9641483 NA 0 NA FALSE NA NA NA NA NA NA PCCB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCCB NA NA NA ENSG00000114054 ENSE00003515190 NA NA NA NA NA NA NA 0.0007358394 FALSE NA ENSE00002371836_001 ENSE00002371836 001 3 135975341 135975510 + 56 69 45 A T 135975352 3148 12 CTCATTAGAAGTAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256509 136256510 136256510 upstr_intron -45 -0.7857143 CTCATTAGAAGTAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 430 37 1 0.9854037 0.9927019 NA NA 0.930138 0.9981587 NA NA 0.06986205 -0.01275499 NA 0.9641483 NA 0.02855353 NA FALSE NA 0.006 1.087 . intron_variant MODIFIER PCCB HGNC 8654 ENST00000462542 2/5 1 NA GAA A,T 8.236e-06 3:136256510 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 intron_variant -0.054494 0.18563 0.08469 0.295142 0.6154784 0.117537 0.0007358394 FALSE 4.07368e-06 ENSE00002371836_003 ENSE00002371836 003 3 135975341 135975510 + 56 69 45 T A 135975358 3150 18 CTCATTAGAAGAAGTATATGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256515 136256516 136256516 upstr_intron -39 -0.6785714 CTCATTAGAAGAAGTATATGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 1238 235 1 0.9977001 0.99885 NA NA 0.930138 0.9981587 NA NA 0.06986205 -0.0004586547 NA 0.9641483 NA 0.0347017 NA FALSE NA 0.04 1.075 . intron_variant MODIFIER PCCB HGNC 8654 ENST00000462542 2/5 1 NA TTT T,A 8.236e-06 3:136256516 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 intron_variant 0.244066 0.21473 0.31869 0.295142 0.4923755 0.158058 0.0007358394 FALSE 4.06626e-06 ENSE00002371836_004 ENSE00002371836 004 3 135975341 135975510 + 56 69 45 T G 135975359 3151 19 CTCATTAGAAGAAGTATTGGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256516 136256517 136256517 upstr_intron -38 -0.6607143 CTCATTAGAAGAAGTATTGGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 893 336 0.9890912 0.999529 0.9943101 NA NA 0.930138 0.9981587 NA NA 0.05895321 0.001370296 NA 0.9641483 NA 0.03016175 NA FALSE NA 0.151 1.015 . intron_variant MODIFIER PCCB HGNC 8654 ENST00000462542 2/5 rs370297749 1 NA G:0 G:0.0001 TTG T,G 8.236e-06 3:136256517 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 intron_variant 0.276542 0.1804 0.23206 0.295142 0.3312311 0.158058 0.0007358394 FALSE 4.06583e-06 ENSE00002371836_005 ENSE00002371836 005 3 135975341 135975510 + 56 69 45 G A 135975361 3152 21 CTCATTAGAAGAAGTATTTGAATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256518 136256519 136256519 upstr_intron -36 -0.625 CTCATTAGAAGAAGTATTTGAATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 66 477 1 0.9996683 0.9998341 NA NA 0.930138 0.9981587 NA NA 0.06986205 0.001509579 NA 0.9641483 NA 0.03568581 NA FALSE NA 0.001 -0.155 . intron_variant MODIFIER PCCB HGNC 8654 ENST00000462542 2/5 rs374520942 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGA G,A 2.471e-05 3:136256519 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 intron_variant 0.153611 0.14932 0.05496 0.295142 0.6887189 0.158058 0.0007358394 FALSE 1.2195e-05 ENSE00002371836_006 ENSE00002371836 006 3 135975341 135975510 + 56 69 45 T A 135975363 3153 23 CTCATTAGAAGAAGTATTTGGAATTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256520 136256521 136256521 upstr_intron -34 -0.5892857 CTCATTAGAAGAAGTATTTGGAATTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 52 13 1 1 1 NA NA 0.930138 0.9981587 NA NA 0.06986205 0.001841279 NA 0.9641483 NA 0.03585166 NA FALSE NA 0.507 0.404 . intron_variant MODIFIER PCCB HGNC 8654 ENST00000462542 2/5 rs376504464 1 NA A:0 A:0.0001 ATT T,A 8.236e-06 3:136256521 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 intron_variant 0.468786 0.22126 0.07316 0.295142 0.7821218 0.172685 0.0007358394 FALSE 4.06425e-06 ENSE00002371836_008 ENSE00002371836 008 3 135975341 135975510 + 56 69 45 G C 135975382 3155 42 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTCCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256539 136256540 136256540 upstr_intron -15 -0.25 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTCCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 1890 159 0.9977573 0.9899207 0.993839 NA NA 0.930138 0.9981587 NA NA 0.06761938 -0.008238003 NA 0.9641483 NA 0.02969069 NA FALSE NA 0 -0.223 . intron_variant MODIFIER PCCB HGNC 8654 ENST00000462542 2/5 rs199959693 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TGC G,C 8.236e-06 3:136256540 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 intron_variant 1.545941 0.19569 0.02277 0.295142 0.734029 0.308229 0.0007358394 FALSE 4.06111e-06 ENSE00002371836_012 ENSE00002371836 012 3 135975341 135975510 + 56 69 45 T G 135975399 3159 59 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTGCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256556 136256557 136256557 exon 3 0.04347826 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTGCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 17 117 1 0.9931804 0.9965902 NA NA 0.930138 0.9981587 NA NA 0.06986205 -0.004978316 NA 0.9641483 NA 0.03244186 NA FALSE NA 1 1.152 . missense_variant&splice_region_variant MODERATE PCCB HGNC 8654 ENST00000462542 3/6 1 tolerated_low_confidence(0.08) benign(0.06) NA TTC T,G 4.942e-05 3:136256557 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 missense_variant 2.273226 0.97233 0.89674 0.744818 0.9872874 0 0.0007358394 FALSE 7.30964e-05 ENSE00002371836_013 ENSE00002371836 013 3 135975341 135975510 + 56 69 45 G A 135975406 3160 66 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAAACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256563 136256564 136256564 exon 10 0.1449275 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAAACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 75 73 1 1 1 NA NA 0.930138 0.9981587 NA NA 0.06986205 0.001841279 NA 0.9641483 NA 0.03585166 NA FALSE NA 1 9.013 . missense_variant MODERATE PCCB HGNC 8654 ENST00000462542 3/6 1 deleterious_low_confidence(0) probably_damaging(1) NA AGA G,A 8.236e-06 3:136256564 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 missense_variant 7.052467 0.99227 0.98843 0.732398 0.9993152 0 0.0007358394 FALSE 1.21824e-05 ENSE00002371836_017 ENSE00002371836 017 3 135975341 135975510 + 56 69 45 C G 135975419 3164 79 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCAGTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256576 136256577 136256577 exon 23 0.3333333 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCAGTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 338 175 1 1 1 NA NA 0.930138 0.9981587 NA NA 0.06986205 0.001841279 NA 0.9641483 NA 0.03585166 NA FALSE NA 1 7.136 NA NA NA PCCB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:136256577 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 missense_variant 6.251052 0.99248 0.98538 0.732398 0.9965099 0 0.0007358394 FALSE 4.06078e-06 ENSE00002371836_023 ENSE00002371836 023 3 135975341 135975510 + 56 69 45 A G 135975442 3170 102 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAGGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256599 136256600 136256600 exon -24 0.6666667 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAGGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 74 1016 0.9557908 1 0.9778954 NA NA 0.930138 0.9981587 NA NA 0.02565281 0.001841279 NA 0.9641483 NA 0.01374704 NA FALSE NA 1 5.44 . missense_variant MODERATE PCCB HGNC 8654 ENST00000462542 3/6 1 deleterious_low_confidence(0) probably_damaging(0.999) NA AAG A,G 8.236e-06 3:136256600 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 missense_variant 6.150533 0.98374 0.96228 0.732398 0.9987926 0 0.0007358394 FALSE 4.06072e-06 ENSE00002371836_024 ENSE00002371836 024 3 135975341 135975510 + 56 69 45 G C 135975448 3171 108 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGCTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256605 136256606 136256606 exon -18 0.7536232 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGCTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 464 39 0.9985722 1 0.9992861 NA NA 0.930138 0.9981587 NA NA 0.06843426 0.001841279 NA 0.9641483 NA 0.03513777 NA FALSE NA 1 9.013 . missense_variant MODERATE PCCB HGNC 8654 ENST00000462542 3/6 1 deleterious_low_confidence(0.01) benign(0.097) NA GGT G,C 8.236e-06 3:136256606 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 missense_variant 6.228466 0.99258 0.99066 0.732398 0.9967733 0 0.0007358394 FALSE 4.06065e-06 ENSE00002371836_025 ENSE00002371836 025 3 135975341 135975510 + 56 69 45 C A 135975456 3172 116 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTATTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256613 136256614 136256614 exon -10 0.8695652 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTATTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 581 1784 0.9674741 0.8316686 0.8995713 NA NA 0.930138 0.9981587 NA NA 0.03733611 -0.1664901 NA 0.9641483 NA -0.064577 NA FALSE NA 1 1.861 . synonymous_variant LOW PCCB HGNC 8654 ENST00000462542 3/6 1 NA TCT C,A 8.236e-06 3:136256614 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 synonymous_variant 2.43526 0.98231 0.88182 0.732398 0.8445406 0 0.0007358394 FALSE 4.06075e-06 ENSE00002371836_026 ENSE00002371836 026 3 135975341 135975510 + 56 69 45 T A 135975469 3173 129 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTAATTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG 136256498 136256668 136256626 136256627 136256627 downstr_intron 4 1.090909 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTAATTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 766 948 1 0.9965181 0.998259 NA NA 0.930138 0.9981587 NA NA 0.06986205 -0.001640664 NA 0.9641483 NA 0.03411069 NA FALSE NA 1 2.206 . splice_region_variant&intron_variant LOW PCCB HGNC 8654 ENST00000462542 3/5 1 NA ATT T,A 1.647e-05 3:136256627 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 splice_region_variant 0.414567 0.8093 0.41528 0.156188 0.6212277 0.30334 0.0007358394 FALSE 1.21828e-05 ENSE00002371836_031 ENSE00002371836 031 3 135975341 135975510 + 56 69 45 T C 135975495 3178 155 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTCTCTTGGAGGGCAGAG 136256498 136256668 136256652 136256653 136256653 downstr_intron 30 1.681818 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTCTCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 122 110 0.9180635 1 0.9590318 NA NA 0.930138 0.9981587 NA NA -0.01207444 0.001841279 NA 0.9641483 NA -0.005116578 NA FALSE NA 0.031 1.237 . intron_variant MODIFIER PCCB HGNC 8654 ENST00000462542 3/5 1 NA TTT T,C 3.295e-05 3:136256653 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 intron_variant 0.53846 0.19501 0.12727 0.099367 0.7420263 0.160926 0.0007358394 FALSE 2.84477e-05 ENSE00002371836_032 ENSE00002371836 032 3 135975341 135975510 + 56 69 45 T C 135975496 3179 156 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTCCTTGGAGGGCAGAG 136256498 136256668 136256653 136256654 136256654 downstr_intron 31 1.704545 CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTCCTTGGAGGGCAGAG CTCATTAGAAGAAGTATTTGGATTTTTTAACCTTTATTTTTGCATTTTTCTGGTAGTTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGTATTTCATAACTCCAATAGTCTGAACTTTTCTTGGAGGGCAGAG mutant NA NA NA NA NA 307 1153 0.9933627 0.8408041 0.9170834 NA NA 0.930138 0.9981587 NA NA 0.06322476 -0.1573546 NA 0.9641483 NA -0.04706494 NA FALSE NA 0.001 0.255 rs16843829 intron_variant MODIFIER PCCB HGNC 8654 ENST00000462542 3/5 rs16843829 1 C:0.0329 C:0 C:0 NA C:0.1607 C:0.002 C:0.001 C:0.0023 C:0.0002 TTC T,C 0.014 3:136256654 PCCB HGNC Symbol protein_coding 87590 ENSG00000114054 ENSE00003515190 intron_variant 0.592517 0.20193 0.03748 0.099367 0.7650119 0.160926 0.0007358394 FALSE 0.0142058 ENSE00002371951_000 ENSE00002371951 000 2 238629350 238629519 + 65 51 54 NA NA NA NA NA GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 NA NA NA NA NA NA GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT natural 429 595 0.8607919 0.8432423 0.8520171 2262 1989 0.9723323 0.9128536 0.9425929 0.8607919 0.8432423 0.9723323 0.9128536 0 0 0 0 0.8520171 0.9425929 0 0 0 FALSE FALSE NA NA NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP1 NA NA NA ENSG00000124831 ENSE00003660091 NA NA NA NA NA NA NA 0.3655125 FALSE NA ENSE00002371951_002 ENSE00002371951 002 2 238629350 238629519 + 65 51 54 G A 238629370 5858 21 GGCACTGGTTCTTCATGTATATTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720726 237720727 237720727 upstr_intron -45 -0.6769231 GGCACTGGTTCTTCATGTATATTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 1201 417 0.9581087 0.9505097 0.9543092 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.01422358 0.03765617 0.8520171 0.9425929 NA 0.01171629 NA FALSE NA 0 -0.292 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA TGT G,A 8.236e-06 2:237720727 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 intron_variant 0.35366 0.15117 0.0734 0.099367 0.8099121 0.0682425 0.3655125 FALSE 8.12394e-06 ENSE00002371951_003 ENSE00002371951 003 2 238629350 238629519 + 65 51 54 T G 238629380 5859 31 GGCACTGGTTCTTCATGTATGTTGTATGATGCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720736 237720737 237720737 upstr_intron -35 -0.5230769 GGCACTGGTTCTTCATGTATGTTGTATGATGCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 288 305 0.9492336 0.9581397 0.9536866 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.02309871 0.04528609 0.8520171 0.9425929 NA 0.01109369 NA FALSE NA 0 0.188 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA TTC T,G 1.647e-05 2:237720737 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 intron_variant 0.122721 0.19925 0.07846 0.099367 0.7106044 0.109522 0.3655125 FALSE 8.12209e-06 ENSE00002371951_005 ENSE00002371951 005 2 238629350 238629519 + 65 51 54 C T 238629387 5861 38 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCATGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720743 237720744 237720744 upstr_intron -28 -0.4153846 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCATGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 509 131 0.9984536 0.8691498 0.9338017 0.8607919 0.8432423 0.9723323 0.9128536 NA NA 0.02612131 -0.04370377 0.8520171 0.9425929 NA -0.008791232 NA FALSE NA 0.055 -0.328 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA ACG C,T 8.236e-06 2:237720744 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 intron_variant 0.649994 0.17113 0.01403 0.099367 0.7734078 0.111302 0.3655125 FALSE 4.06095e-06 ENSE00002371951_006 ENSE00002371951 006 2 238629350 238629519 + 65 51 54 G A 238629388 5862 39 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACAGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720744 237720745 237720745 upstr_intron -27 -0.4 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACAGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 356 984 0.9980181 0.9593133 0.9786657 0.8607919 0.8432423 0.9723323 0.9128536 NA NA 0.02568576 0.04645968 0.8520171 0.9425929 NA 0.03607272 NA FALSE NA 0.019 0.465 rs111447583 intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs111447583 1 A:0.0088 A:0.0325 A:0.0014 NA A:0 A:0 A:0 A:0.0266 A:0.0001 CGG G,A 0.002767 2:237720745 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 intron_variant 0.355607 0.17147 0.07091 0.099367 0.8020413 0.11242 0.3655125 FALSE 0.00234313 ENSE00002371951_008 ENSE00002371951 008 2 238629350 238629519 + 65 51 54 C T 238629397 5864 48 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTTGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720753 237720754 237720754 upstr_intron -18 -0.2615385 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTTGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 284 185 1 1 1 0.8607919 0.8432423 0.9723323 0.9128536 NA NA 0.02766769 0.08714643 0.8520171 0.9425929 NA 0.05740706 NA FALSE NA 0.055 0.643 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs200066852 1 NA T:0 T:0.0001 TCG C,T 8.236e-05 2:237720754 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 intron_variant 0.870864 0.36183 0.06308 0.156188 0.7347972 0.928776 0.3655125 FALSE 8.12163e-05 ENSE00002371951_009 ENSE00002371951 009 2 238629350 238629519 + 65 51 54 G A 238629398 5865 49 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCATCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720754 237720755 237720755 upstr_intron -17 -0.2461538 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCATCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 1086 70 0.9402281 0.9994545 0.9698413 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.03210423 0.0866009 0.8520171 0.9425929 NA 0.02724833 NA FALSE NA 0.002 -2.077 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs371184144 1 NA A:0.0002 A:0 CGT G,A 8.236e-06 2:237720755 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 intron_variant 0.250649 0.22179 0.01037 0.156188 0.8836478 0.163509 0.3655125 FALSE 8.12156e-06 ENSE00002371951_010 ENSE00002371951 010 2 238629350 238629519 + 65 51 54 T C 238629412 5866 63 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAACAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720768 237720769 237720769 upstr_intron -3 -0.03076923 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAACAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 115 18 0.9919063 0.95 0.9709531 0.8607919 0.8432423 0.9723323 0.9128536 NA NA 0.01957396 0.03714643 0.8520171 0.9425929 NA 0.02836019 NA FALSE NA 0.436 0.388 rs190569103 intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs190569103 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 ATA T,C 6.589e-05 2:237720769 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 splice_region_variant 1.731764 0.86005 0.27553 0.156188 0.8953183 0.456193 0.3655125 FALSE 5.27889e-05 ENSE00002371951_011 ENSE00002371951 011 2 238629350 238629519 + 65 51 54 G A 238629424 5867 75 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATAAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720780 237720781 237720781 exon 10 0.1960784 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATAAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 458 243 0 0.02996988 0.01498494 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.9723323 -0.8828837 0.8520171 0.9425929 NA -0.927608 NA TRUE NA 1 6.269 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs373740874 1 NA A:0 A:0.0001 TGA G,A 8.236e-06 2:237720781 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 missense_variant 5.331428 0.93361 0.89243 0.562547 0.9991765 0 0.3655125 FALSE 4.06065e-06 ENSE00002371951_013 ENSE00002371951 013 2 238629350 238629519 + 65 51 54 G A 238629434 5869 85 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCACATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720790 237720791 237720791 exon 20 0.3921569 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCACATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 2982 1460 0.7425354 0.8008654 0.7717004 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.2297969 -0.1119882 0.8520171 0.9425929 NA -0.1708925 NA FALSE NA 1 3.435 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA CGC G,A 8.236e-06 2:237720791 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 missense_variant 7.283392 0.90325 0.72143 0.562547 0.9994404 0 0.3655125 FALSE 1.21818e-05 ENSE00002371951_014 ENSE00002371951 014 2 238629350 238629519 + 65 51 54 C A 238629435 5870 86 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGAATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720791 237720792 237720792 exon 21 0.4117647 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGAATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 365 25 0.9990945 1 0.9995472 0.8607919 0.8432423 0.9723323 0.9128536 NA NA 0.02676219 0.08714643 0.8520171 0.9425929 NA 0.05695431 NA FALSE NA 0.996 1.722 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA GCA C,A 8.236e-06 2:237720792 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 synonymous_variant 2.508741 0.82715 0.6089 0.562547 0.8718016 0 0.3655125 FALSE 4.06055e-06 ENSE00002371951_016 ENSE00002371951 016 2 238629350 238629519 + 65 51 54 G C 238629445 5872 96 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGCGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720801 237720802 237720802 exon -21 0.6078431 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGCGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 818 685 0.6946263 0.6778866 0.6862565 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.277706 -0.234967 0.8520171 0.9425929 NA -0.2563365 NA FALSE NA 1 3.545 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA GGG G,C 8.236e-06 2:237720802 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 missense_variant 4.521825 0.89426 0.82017 0.562547 0.9991218 0 0.3655125 FALSE 4.06055e-06 ENSE00002371951_019 ENSE00002371951 019 2 238629350 238629519 + 65 51 54 G A 238629452 5875 103 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCATGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720808 237720809 237720809 exon -14 0.745098 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCATGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 1198 392 0.7826909 0.7305512 0.7566211 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.1896414 -0.1823023 0.8520171 0.9425929 NA -0.1859719 NA FALSE NA 1 6.269 NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237720809 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 missense_variant 7.464407 0.92315 0.88861 0.615465 0.9995303 0 0.3655125 FALSE 1.21817e-05 ENSE00002371951_020 ENSE00002371951 020 2 238629350 238629519 + 65 51 54 G A 238629458 5876 109 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAACCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720814 237720815 237720815 exon -8 0.8627451 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAACCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 1293 1089 0.8516745 0.9972267 0.9244506 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.1206578 0.08437316 0.8520171 0.9425929 NA -0.01814233 NA FALSE NA 1 6.269 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA AGC G,A 8.236e-06 2:237720815 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 missense_variant 6.136677 0.93361 0.89243 0.615465 0.9953836 0 0.3655125 FALSE 4.06055e-06 ENSE00002371951_021 ENSE00002371951 021 2 238629350 238629519 + 65 51 54 G A 238629464 5877 115 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAAGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720820 237720821 237720821 exon -2 0.9803922 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAAGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 597 627 0.9985433 0.8185903 0.9085668 0.8607919 0.8432423 0.9723323 0.9128536 NA NA 0.02621103 -0.09426326 0.8520171 0.9425929 NA -0.03402612 NA FALSE NA 1 6.269 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA AGG G,A 8.236e-06 2:237720821 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 missense_variant 5.259583 0.93361 0.89243 0.615465 0.9971614 0 0.3655125 FALSE 8.1211e-06 ENSE00002371951_022 ENSE00002371951 022 2 238629350 238629519 + 65 51 54 G A 238629466 5878 117 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGATCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720822 237720823 237720823 downstr_intron 1 1.018868 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGATCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 310 141 0 0.002277062 0.001138531 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.9723323 -0.9105765 0.8520171 0.9425929 NA -0.9414544 NA TRUE NA 1 6.269 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA GGT G,A 8.236e-06 2:237720823 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 splice_donor_variant 5.590995 0.93361 0.89243 0.156188 0.9947776 0.976863 0.3655125 FALSE 1.21817e-05 ENSE00002371951_024 ENSE00002371951 024 2 238629350 238629519 + 65 51 54 C G 238629475 5880 126 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACGAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720831 237720832 237720832 downstr_intron 10 1.188679 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACGAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 133 324 0.950456 0.9427568 0.9466064 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.02187629 0.02990319 0.8520171 0.9425929 NA 0.004013451 NA FALSE NA 0 -0.612 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs376919660 1 NA G:0 G:0.0001 CCA C,G 8.236e-06 2:237720832 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 non_coding_transcript_exon_variant 1.058606 0.73271 0.11505 0.099367 0.6791605 0.446107 0.3655125 FALSE 4.06062e-06 ENSE00002371951_026 ENSE00002371951 026 2 238629350 238629519 + 65 51 54 A G 238629493 5882 144 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCGTGGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720849 237720850 237720850 downstr_intron 28 1.528302 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCGTGGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 329 323 0.9363967 0.9404398 0.9384182 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.03593565 0.02758626 0.8520171 0.9425929 NA -0.004174696 NA FALSE NA 0.383 0.193 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA CAT A,G 8.236e-06 2:237720850 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 non_coding_transcript_exon_variant 0.427887 0.83575 0.41422 0.099367 0.5413195 0.222591 0.3655125 FALSE 4.06065e-06 ENSE00002371951_027 ENSE00002371951 027 2 238629350 238629519 + 65 51 54 G A 238629495 5883 146 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATAGCACAGTTTCTGGTCCAAGCCCTT 237720706 237720876 237720851 237720852 237720852 downstr_intron 30 1.566038 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATAGCACAGTTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 2189 462 0.8006623 0.9545216 0.877592 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.17167 0.04166804 0.8520171 0.9425929 NA -0.06500098 NA FALSE NA 0.749 2.399 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA TGG G,A 8.236e-06 2:237720852 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 non_coding_transcript_exon_variant 0.79739 0.91328 0.75176 0.099367 0.7931915 0.931131 0.3655125 FALSE 8.12288e-06 ENSE00002371951_028 ENSE00002371951 028 2 238629350 238629519 + 65 51 54 G A 238629501 5884 152 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAATTTCTGGTCCAAGCCCTT 237720706 237720876 237720857 237720858 237720858 downstr_intron 36 1.679245 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAATTTCTGGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 832 418 0.9867654 0.9367081 0.9617367 0.8607919 0.8432423 0.9723323 0.9128536 NA NA 0.01443312 0.02385449 0.8520171 0.9425929 NA 0.01914381 NA FALSE NA 0 -0.253 rs144552752 intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs144552752 1 A:0.0018 A:0 A:0.0072 NA A:0 A:0.004 A:0 A:0.0005 A:0.0034 AGT G,A 0.002059 2:237720858 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 non_coding_transcript_exon_variant 0.271955 0.16533 0.04509 0.099367 0.8144109 0.0998799 0.3655125 FALSE 0.00213188 ENSE00002371951_029 ENSE00002371951 029 2 238629350 238629519 + 65 51 54 G A 238629507 5885 158 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTAGTCCAAGCCCTT 237720706 237720876 237720863 237720864 237720864 downstr_intron 42 1.792453 GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTAGTCCAAGCCCTT GGCACTGGTTCTTCATGTATGTTGTATGATTCCTTCACGGTTGTTCTCGTCCTTTCTTTTAATAGGCTTCTGATGAAGACGAGCGCATGTCAGTGGGTAGTCGTGGAAGCCTGAGGGTCAGTAACCAGAATGATGGAGTTTGCATGGCACAGTTTCTGGTCCAAGCCCTT mutant NA NA NA NA NA 113 210 0.9578402 0.9786242 0.9682322 0.8607919 0.8432423 0.9723323 0.9128536 NA NA -0.01449207 0.06577065 0.8520171 0.9425929 NA 0.02563929 NA FALSE NA 0 -0.809 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA TGG G,A 8.236e-06 2:237720864 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003660091 non_coding_transcript_exon_variant 0.25202 0.17307 0.07431 0.099367 0.6484869 0.0934353 0.3655125 FALSE 4.06131e-06 ENSE00002371985_000 ENSE00002371985 000 17 30200653 30200822 - 39 81 50 NA NA NA NA NA TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 NA NA NA NA NA NA TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT natural 202 321 0.8279824 0.8627279 0.8453551 2409 1653 0.8570485 0.7395258 0.7982871 0.8279824 0.8627279 0.8570485 0.7395258 0 0 0 0 0.8453551 0.7982871 0 0 0 FALSE FALSE NA NA NA NA NA CTC-542B22.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTP6 NA NA NA ENSG00000108651 ENSE00003667202 NA NA NA NA NA NA NA 4.828815e-06 FALSE NA ENSE00002371985_001 ENSE00002371985 001 17 30200653 30200822 - 39 81 50 A G 30200667 1348 156 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTCGTGGTGTGGGGAAT 31873633 31873803 31873647 31873648 31873648 downstr_intron 25 1.657895 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTCGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant NA NA NA NA NA 23 161 0.8069833 0.814402 0.8106927 0.8279824 0.8627279 0.8570485 0.7395258 NA NA -0.05006514 0.07487617 0.8453551 0.7982871 NA 0.01240551 NA FALSE NA 0 -0.011 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 rs532620795 1 NA CAA A,G 8.236e-06 17:31873648 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 intron_variant -0.154358 0.1482 0.07852 0.156188 0.4383408 0.106067 4.828815e-06 FALSE 4.06494e-06 ENSE00002371985_002 ENSE00002371985 002 17 30200653 30200822 - 39 81 50 G A 30200669 1349 154 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTTTTGTGGTGTGGGGAAT 31873633 31873803 31873649 31873650 31873650 downstr_intron 23 1.605263 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTTTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant 33 99 0.85 0.85 0.85 340 43 0.8 1 0.9 0.8279824 0.8627279 0.8570485 0.7395258 0.02201761 -0.0127279 -0.05704848 0.2604742 0.8453551 0.7982871 0.004644857 0.1017129 0.09706799 FALSE FALSE 0.003 0.631 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 rs369288299 1 NA A:0 A:0.0001 AGA G,A 2.471e-05 17:31873650 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 intron_variant 0.058039 0.17505 0.12913 0.156188 0.5507687 0.108526 4.828815e-06 FALSE 1.62598e-05 ENSE00002371985_004 ENSE00002371985 004 17 30200653 30200822 - 39 81 50 A G 30200688 1351 135 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTACAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873668 31873669 31873669 downstr_intron 4 1.105263 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTACAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant NA NA NA NA NA 320 133 0.9966075 0.993446 0.9950267 0.8279824 0.8627279 0.8570485 0.7395258 NA NA 0.139559 0.2539201 0.8453551 0.7982871 NA 0.1967396 NA FALSE NA 0 -0.969 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA TAT A,G 8.236e-06 17:31873669 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 splice_region_variant -0.001507 0.13902 0.02021 0.156188 0.6421673 0.120353 4.828815e-06 FALSE 8.13233e-06 ENSE00002371985_005 ENSE00002371985 005 17 30200653 30200822 - 39 81 50 C T 30200700 1352 123 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAATCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873680 31873681 31873681 exon -9 0.9012346 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAATCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant NA NA NA NA NA 415 54 0.9251181 0.9792952 0.9522066 0.8279824 0.8627279 0.8570485 0.7395258 NA NA 0.06806959 0.2397693 0.8453551 0.7982871 NA 0.1539195 NA FALSE NA 0.151 -0.132 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA ACT C,T 1.647e-05 17:31873681 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 missense_variant 1.168392 0.59852 0.01763 0.706548 0.6619671 0 4.828815e-06 FALSE 1.22143e-05 ENSE00002371985_006 ENSE00002371985 006 17 30200653 30200822 - 39 81 50 T C 30200701 1353 122 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCGGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873681 31873682 31873682 exon -10 0.8888889 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCGGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant 26 28 0.85 0.85 0.85 NA NA NA NA NA 0.8279824 0.8627279 0.8570485 0.7395258 0.02201761 -0.0127279 NA NA 0.8453551 0.7982871 0.004644857 NA NA NA FALSE 0.001 -1.752 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA CTG T,C 2.471e-05 17:31873682 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 synonymous_variant 1.184796 0.5077 0.08147 0.706548 0.7645991 0 4.828815e-06 FALSE 2.0405e-05 ENSE00002371985_007 ENSE00002371985 007 17 30200653 30200822 - 39 81 50 T C 30200711 1354 112 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGGCACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873691 31873692 31873692 exon -20 0.7654321 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGGCACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant 45 31 0 0 0 NA NA NA NA NA 0.8279824 0.8627279 0.8570485 0.7395258 -0.8279824 -0.8627279 NA NA 0.8453551 0.7982871 -0.8453551 NA NA NA TRUE 1 5.114 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA GTC T,C 8.236e-06 17:31873692 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 missense_variant 4.643688 0.98084 0.97455 0.706548 0.9946663 0 4.828815e-06 FALSE 4.0831e-06 ENSE00002371985_008 ENSE00002371985 008 17 30200653 30200822 - 39 81 50 C T 30200729 1355 94 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGATGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873709 31873710 31873710 exon -38 0.5432099 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGATGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant NA NA NA NA NA 48 204 0.8587891 1 0.9293946 0.8279824 0.8627279 0.8570485 0.7395258 NA NA 0.001740642 0.2604742 0.8453551 0.7982871 NA 0.1311074 NA FALSE NA 0.001 -0.185 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 rs374155003 1 NA T:0 T:0.0001 ACC C,T 1.647e-05 17:31873710 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 missense_variant 2.05347 0.93969 0.16392 0.706548 0.7246477 0 4.828815e-06 FALSE 8.18672e-06 ENSE00002371985_009 ENSE00002371985 009 17 30200653 30200822 - 39 81 50 C T 30200733 1356 90 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTAAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873713 31873714 31873714 exon 40 0.4938272 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTAAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant 42 135 0 0 0 NA NA NA NA NA 0.8279824 0.8627279 0.8570485 0.7395258 -0.8279824 -0.8627279 NA NA 0.8453551 0.7982871 -0.8453551 NA NA NA TRUE 1 3.355 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA TCA C,T 1.647e-05 17:31873714 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 missense_variant 3.066917 0.98388 0.92557 0.706548 0.996081 0 4.828815e-06 FALSE 8.1943e-06 ENSE00002371985_010 ENSE00002371985 010 17 30200653 30200822 - 39 81 50 A G 30200734 1357 89 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGCGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873714 31873715 31873715 exon 39 0.4814815 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGCGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant 89 210 0.8438166 0.85 0.8469083 NA NA NA NA NA 0.8279824 0.8627279 0.8570485 0.7395258 0.01583423 -0.0127279 NA NA 0.8453551 0.7982871 0.001553165 NA NA NA FALSE 1 1.9 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA CAC A,G 8.236e-06 17:31873715 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 synonymous_variant 0.833863 0.97157 0.89653 0.706548 0.8870816 0 4.828815e-06 FALSE NA ENSE00002371985_011 ENSE00002371985 011 17 30200653 30200822 - 39 81 50 A C 30200739 1358 84 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGGGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873719 31873720 31873720 exon 34 0.4197531 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGGGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant 79 55 0 0 0 236 201 0.2076962 0.08437924 0.1460377 0.8279824 0.8627279 0.8570485 0.7395258 -0.8279824 -0.8627279 -0.6493523 -0.6551466 0.8453551 0.7982871 -0.8453551 -0.6522494 0.1931057 TRUE TRUE 1 5.915 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA CAC A,C 8.236e-06 17:31873720 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 missense_variant 5.47709 0.98187 0.98491 0.706548 0.9816102 0 4.828815e-06 FALSE 4.12239e-06 ENSE00002371985_012 ENSE00002371985 012 17 30200653 30200822 - 39 81 50 G A 30200762 1359 61 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCTATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873742 31873743 31873743 exon 11 0.1358025 TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCTATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant 56 140 0.8401496 0.8107451 0.8254474 155 182 0.8010391 0.8 0.8005195 0.8279824 0.8627279 0.8570485 0.7395258 0.01216719 -0.05198277 -0.0560094 0.06047418 0.8453551 0.7982871 -0.01990779 0.002232394 0.02214018 FALSE FALSE 1 5.858 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA TGG G,A 2.471e-05 17:31873743 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 missense_variant 3.028528 0.98216 0.99025 0.706548 0.9939033 0 4.828815e-06 FALSE 2.48816e-05 ENSE00002371985_014 ENSE00002371985 014 17 30200653 30200822 - 39 81 50 T G 30200794 1361 29 TGTTTTGTTATATGCTGTTCTCTAACTACCATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT 31873633 31873803 31873774 31873775 31873775 upstr_intron -22 -0.42 TGTTTTGTTATATGCTGTTCTCTAACTACCATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT TGTTTTGTTATATGCTGTTCTCTAACTAACATTTTTTAAACTGGGAGTAGGTTTGTCTGCCATTGTGGATTTCCTGGGCAGAGTGGAGTGAAGGTGCCAAAAGCCAAGAAGACACTGAGGCAGTCTTTAAGGTATAGGCTCCGTGTTCCAAGTCTTGTGGTGTGGGGAAT mutant NA NA NA NA NA 50 655 0.9711248 0.8895432 0.930334 0.8279824 0.8627279 0.8570485 0.7395258 NA NA 0.1140764 0.1500174 0.8453551 0.7982871 NA 0.1320469 NA FALSE NA 0.002 0.726 . upstream_gene_variant MODIFIER CTC-542B22.2 Clone_based_vega_gene NA ENST00000583236 1 NA GTT T,G 8.238e-06 17:31873775 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003667202 non_coding_transcript_exon_variant 0.019261 0.18648 0.10132 0.156188 0.3065182 0.0871293 4.828815e-06 FALSE 4.29982e-06 ENSE00002372085_000 ENSE00002372085 000 5 149629751 149629920 - 38 84 48 NA NA NA NA NA TCCCATGGCCAGGACTGTGGAGGGTGAGGACCTGTTACCTTCAGTTTCCTCCTGGCATTGAACTTCTTCAGGCAGTCCACGGTCTCCTGTCTGTGCATGCAGGATGCCACGGTGGAGCGGTGCTGGAGGAAGTAGGGGAGAGGGCTGTGAGTGGAAGGCAGGCTGGAAGA 150250187 150250357 NA NA NA NA NA NA TCTTCCAGCCTGCCTTCCACTCACAGCCCTCTCCCCTACTTCCTCCAGCACCGCTCCACCGTGGCATCCTGCATGCACAGACAGGAGACCGTGGACTGCCTGAAGAAGTTCAATGCCAGGAGGAAACTGAAGGTAACAGGTCCTCACCCTCCACAGTCCTGGCCATGGGA TCTTCCAGCCTGCCTTCCACTCACAGCCCTCTCCCCTACTTCCTCCAGCACCGCTCCACCGTGGCATCCTGCATGCACAGACAGGAGACCGTGGACTGCCTGAAGAAGTTCAATGCCAGGAGGAAACTGAAGGTAACAGGTCCTCACCCTCCACAGTCCTGGCCATGGGA natural NA NA NA NA NA 198 92 0.8467614 1 0.9233807 NA NA 0.8467614 1 NA NA 0 0 NA 0.9233807 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003517992 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002372608_000 ENSE00002372608 000 9 138831483 138831652 - 36 87 47 NA NA NA NA NA CGGCCTCCTGCCGCCCCCAGCGAGCTAACGGCTGTGCTGTCCTCTAGGCCGTCATTTCCCTGATGGAGATGGGGTTCGACGAGAAAGAGGTGATAGATGCCCTCAGAGTGAACAACAACCAGCAGAATGCCGCGGTGAGTGTTGGGCTGTGGTGAGTGAGTGTGGGCTGT 135939636 135939806 NA NA NA NA NA NA CGGCCTCCTGCCGCCCCCAGCGAGCTAACGGCTGTGCTGTCCTCTAGGCCGTCATTTCCCTGATGGAGATGGGGTTCGACGAGAAAGAGGTGATAGATGCCCTCAGAGTGAACAACAACCAGCAGAATGCCGCGGTGAGTGTTGGGCTGTGGTGAGTGAGTGTGGGCTGT CGGCCTCCTGCCGCCCCCAGCGAGCTAACGGCTGTGCTGTCCTCTAGGCCGTCATTTCCCTGATGGAGATGGGGTTCGACGAGAAAGAGGTGATAGATGCCCTCAGAGTGAACAACAACCAGCAGAATGCCGCGGTGAGTGTTGGGCTGTGGTGAGTGAGTGTGGGCTGT natural NA NA NA NA NA 155 286 0.9898192 0.9750838 0.9824515 NA NA 0.9898192 0.9750838 NA NA 0 0 NA 0.9824515 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003492410 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00002373097_000 ENSE00002373097 000 2 97531556 97531725 - 48 63 59 NA NA NA NA NA TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 NA NA NA NA NA NA TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC natural 14 21 0.9941577 0.9647363 0.979447 1582 2415 0.9359613 0.924757 0.9303592 0.9941577 0.9647363 0.9359613 0.924757 0 0 0 0 0.979447 0.9303592 0 0 0 FALSE FALSE NA NA NA NA NA SEMA4C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA4C NA NA NA ENSG00000168758 ENSE00003509054 NA NA NA NA NA NA NA 0.9993731 TRUE NA ENSE00002373097_001 ENSE00002373097 001 2 97531556 97531725 - 48 63 59 G A 97531588 2179 138 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGTTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865850 96865851 96865851 downstr_intron 16 1.340426 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGTTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 62 661 1 0.9996538 0.9998269 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.07489684 0.979447 0.9303592 NA 0.06946775 NA FALSE NA 0 0.457 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 4/6 1 NA AGC G,A 8.236e-06 2:96865851 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant 0.014673 0.21125 0.0619 0.115753 0.4837061 0.206564 0.9993731 TRUE 4.06332e-06 ENSE00002373097_002 ENSE00002373097 002 2 97531556 97531725 - 48 63 59 C T 97531589 2180 137 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACACTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865851 96865852 96865852 downstr_intron 15 1.319149 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACACTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 213 327 0.9857549 0.9984725 0.9921137 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.04979361 0.07371557 0.979447 0.9303592 NA 0.06175459 NA FALSE NA 0 -3.825 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 4/6 rs375842699 1 NA T:0.0005 T:0 GCG C,T 1.647e-05 2:96865852 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant -0.324143 0.10431 0.03167 0.115753 0.5633648 0.139597 0.9993731 TRUE 2.03201e-05 ENSE00002373097_003 ENSE00002373097 003 2 97531556 97531725 - 48 63 59 G A 97531590 2181 136 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGATGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865852 96865853 96865853 downstr_intron 14 1.297872 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGATGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 232 1039 0.9973473 0.9997744 0.9985608 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06138594 0.07501741 0.979447 0.9303592 NA 0.06820168 NA FALSE NA 0 -0.296 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 4/6 1 NA CGT G,A 8.236e-06 2:96865853 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant -0.162787 0.16096 0.11604 0.115753 0.4533072 0.139597 0.9993731 TRUE 8.12678e-06 ENSE00002373097_004 ENSE00002373097 004 2 97531556 97531725 - 48 63 59 A G 97531594 2182 132 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTCGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865856 96865857 96865857 downstr_intron 10 1.212766 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTCGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 736 151 1 1 1 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.07524304 0.979447 0.9303592 NA 0.06964085 NA FALSE NA 0 -3.191 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 4/6 1 NA CAA A,G 8.236e-06 2:96865857 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant -0.017865 0.11042 0.04702 0.256867 0.3269565 0.174887 0.9993731 TRUE 4.06299e-06 ENSE00002373097_006 ENSE00002373097 006 2 97531556 97531725 - 48 63 59 C T 97531622 2184 104 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAAAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865884 96865885 96865885 exon -19 0.7142857 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAAAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 55 53 1 1 1 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.07524304 0.979447 0.9303592 NA 0.06964085 NA FALSE NA 0.964 1.05 . synonymous_variant LOW SEMA4C HGNC 10731 ENST00000442264 4/7 1 NA TCT C,T 8.236e-06 2:96865885 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 synonymous_variant 1.357897 0.90716 0.81077 0.722319 0.6763991 0 0.9993731 TRUE 4.06306e-06 ENSE00002373097_007 ENSE00002373097 007 2 97531556 97531725 - 48 63 59 T C 97531627 2185 99 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTGTCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865889 96865890 96865890 exon -24 0.6349206 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTGTCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 150 22 1 1 1 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.07524304 0.979447 0.9303592 NA 0.06964085 NA FALSE NA 0 0.063 . missense_variant MODERATE SEMA4C HGNC 10731 ENST00000442264 4/7 rs200655318 1 tolerated(1) benign(0.001) C:0.0006 C:0.0023 C:0 NA C:0 C:0 C:0 ATA T,C 3.295e-05 2:96865890 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 missense_variant -0.222912 0.2769 0.13163 0.722319 0.7998576 0 0.9993731 TRUE 3.65652e-05 ENSE00002373097_008 ENSE00002373097 008 2 97531556 97531725 - 48 63 59 C G 97531631 2186 95 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGACTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865893 96865894 96865894 exon -28 0.5714286 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGACTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 571 1175 0.9945642 0.9991861 0.9968752 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.05860283 0.07442918 0.979447 0.9303592 NA 0.06651601 NA FALSE NA 0.003 -0.853 . missense_variant MODERATE SEMA4C HGNC 10731 ENST00000442264 4/7 1 tolerated(0.22) benign(0.059) NA ACT C,G 9.884e-05 2:96865894 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 missense_variant 2.025028 0.87275 0.5397 0.722319 0.991658 0 0.9993731 TRUE 9.7519e-05 ENSE00002373097_011 ENSE00002373097 011 2 97531556 97531725 - 48 63 59 C T 97531648 2189 78 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCATGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865910 96865911 96865911 exon 19 0.3015873 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCATGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 759 71 0.9273446 0.9465544 0.9369495 0.9941577 0.9647363 0.9359613 0.924757 NA NA -0.008616724 0.02179746 0.979447 0.9303592 NA 0.00659037 NA FALSE NA 0 -0.038 . missense_variant MODERATE SEMA4C HGNC 10731 ENST00000442264 4/7 rs552765149 1 tolerated(0.06) possibly_damaging(0.744) NA ACG C,T 5.765e-05 2:96865911 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 missense_variant 4.661094 0.30709 0.37836 0.722319 0.9936326 0 0.9993731 TRUE 3.65821e-05 ENSE00002373097_012 ENSE00002373097 012 2 97531556 97531725 - 48 63 59 G A 97531649 2190 77 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCTGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865911 96865912 96865912 exon 18 0.2857143 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCTGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 3727 295 0.9978907 1 0.9989454 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06192938 0.07524304 0.979447 0.9303592 NA 0.06858621 NA FALSE NA 0 -6.042 . synonymous_variant LOW SEMA4C HGNC 10731 ENST00000442264 4/7 rs200002903 1 A:0.0010 A:0 A:0 NA A:0.005 A:0 A:0 CGG G,A 0.0003706 2:96865912 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 synonymous_variant 0.261446 0.0589 0.0327 0.722319 0.5098926 0 0.9993731 TRUE 0.000329274 ENSE00002373097_013 ENSE00002373097 013 2 97531556 97531725 - 48 63 59 G A 97531651 2191 75 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCTCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865913 96865914 96865914 exon 16 0.2539683 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCTCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 100 410 1 0.9996141 0.999807 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.0748571 0.979447 0.9303592 NA 0.06944788 NA FALSE NA 0.858 0.962 rs141610691 missense_variant MODERATE SEMA4C HGNC 10731 ENST00000442264 4/7 rs141610691&COSM3758416 1 tolerated(1) probably_damaging(0.914) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0 A:0.0022 GGG G,A 0.001903 2:96865914 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 missense_variant 1.601953 0.79493 0.74058 0.722319 0.205617 0 0.9993731 TRUE 0.00193483 ENSE00002373097_014 ENSE00002373097 014 2 97531556 97531725 - 48 63 59 G A 97531652 2192 74 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCTCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865914 96865915 96865915 exon 15 0.2380952 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCTCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 301 388 1 0.9938892 0.9969446 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.06913227 0.979447 0.9303592 NA 0.06658546 NA FALSE NA 0 -2.076 . synonymous_variant LOW SEMA4C HGNC 10731 ENST00000442264 4/7 1 NA GGG G,A 8.236e-06 2:96865915 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 synonymous_variant 0.627183 0.68162 0.18828 0.722319 0.4697946 0 0.9993731 TRUE 4.06471e-06 ENSE00002373097_015 ENSE00002373097 015 2 97531556 97531725 - 48 63 59 G A 97531661 2193 65 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCTTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865923 96865924 96865924 exon 6 0.0952381 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCTTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 336 209 0.9954926 1 0.9977463 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.0595313 0.07524304 0.979447 0.9303592 NA 0.06738717 NA FALSE NA 0 -2.264 rs140015490 synonymous_variant LOW SEMA4C HGNC 10731 ENST00000442264 4/7 1 NA AGG G,A 1.647e-05 2:96865924 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 synonymous_variant 0.635877 0.24504 0.2503 0.722319 0.6207588 0 0.9993731 TRUE 4.06653e-06 ENSE00002373097_016 ENSE00002373097 016 2 97531556 97531725 - 48 63 59 G A 97531670 2194 56 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCTCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865932 96865933 96865933 upstr_intron -4 -0.05084746 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCTCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 315 476 1 1 1 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.07524304 0.979447 0.9303592 NA 0.06964085 NA FALSE NA 0 0.272 . splice_region_variant&intron_variant LOW SEMA4C HGNC 10731 ENST00000442264 3/6 rs527848533 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGG G,A 4.118e-05 2:96865933 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 splice_region_variant 0.154226 0.34622 0.47268 0.115753 0.5052168 0.302345 0.9993731 TRUE 2.03426e-05 ENSE00002373097_017 ENSE00002373097 017 2 97531556 97531725 - 48 63 59 G A 97531671 2195 55 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCTCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865933 96865934 96865934 upstr_intron -5 -0.06779661 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCTCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 114 696 1 0.9609659 0.9804829 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.03620891 0.979447 0.9303592 NA 0.05012379 NA FALSE NA 0 1.164 . splice_region_variant&intron_variant LOW SEMA4C HGNC 10731 ENST00000442264 3/6 1 NA GGG G,A 8.237e-06 2:96865934 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 splice_region_variant 0.219748 0.34668 0.41902 0.115753 0.5801344 0.291642 0.9993731 TRUE 4.06921e-06 ENSE00002373097_018 ENSE00002373097 018 2 97531556 97531725 - 48 63 59 G A 97531681 2196 45 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCTTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865943 96865944 96865944 upstr_intron -15 -0.2372881 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCTTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 308 795 0.9994643 0.9966029 0.9980336 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06350297 0.07184598 0.979447 0.9303592 NA 0.06767448 NA FALSE NA 0 0.474 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 3/6 1 NA AGG G,A 8.237e-06 2:96865944 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant 0.203055 0.18423 0.12284 0.115753 0.4371055 0.117494 0.9993731 TRUE 4.07325e-06 ENSE00002373097_019 ENSE00002373097 019 2 97531556 97531725 - 48 63 59 C A 97531689 2197 37 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTTACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865951 96865952 96865952 upstr_intron -23 -0.3728814 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTTACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 721 291 1 0.9987968 0.9993984 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.07403986 0.979447 0.9303592 NA 0.06903926 NA FALSE NA 0.954 0.184 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 3/6 1 NA TCA C,A 8.237e-06 2:96865952 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant 0.671361 0.60535 0.26742 0.115753 0.6636391 0.0934712 0.9993731 TRUE 4.0812e-06 ENSE00002373097_020 ENSE00002373097 020 2 97531556 97531725 - 48 63 59 C G 97531692 2198 34 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGCCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865954 96865955 96865955 upstr_intron -26 -0.4237288 TGTGACACGTGCTCAGTCCGTACCTGTAACGTGCCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 152 40 1 1 1 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.07524304 0.979447 0.9303592 NA 0.06964085 NA FALSE NA 0.004 -0.192 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 3/6 1 NA GCC C,G 8.237e-06 2:96865955 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant 0.42443 0.28905 0.23279 0.115753 0.6170835 0.0552711 0.9993731 TRUE 4.0861e-06 ENSE00002373097_021 ENSE00002373097 021 2 97531556 97531725 - 48 63 59 G A 97531696 2199 30 TGTGACACGTGCTCAGTCCGTACCTGTAATGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865958 96865959 96865959 upstr_intron -30 -0.4915254 TGTGACACGTGCTCAGTCCGTACCTGTAATGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 89 936 1 0.9999593 0.9999797 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06403866 0.07520237 0.979447 0.9303592 NA 0.06962051 NA FALSE NA 0 -0.161 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 3/6 rs377345930 1 A:0.0004 A:0 A:0.0014 NA A:0.001 A:0 A:0 CGT G,A 0.0001318 2:96865959 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant 0.095332 0.16377 0.08996 0.115753 0.4916896 0.0552711 0.9993731 TRUE 0.00017586 ENSE00002373097_023 ENSE00002373097 023 2 97531556 97531725 - 48 63 59 G A 97531712 2201 14 TGTGACACGTGCTTAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC 96865818 96865988 96865974 96865975 96865975 upstr_intron -46 -0.7627119 TGTGACACGTGCTTAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC TGTGACACGTGCTCAGTCCGTACCTGTAACGTGGCTGACATCCCCTTCCCTTTCCCCAGATCTCCTGGGAGGCCCCCGTGGAGAAGAAGACTGAGTGTATCCAGAAAGGGAAGAACAACCAGGTGGGTGCTTGGACGCTGCTCCTGGTGCTGCCTTCACCCCAGGACGTC mutant NA NA NA NA NA 281 269 0.996113 1 0.9980565 0.9941577 0.9647363 0.9359613 0.924757 NA NA 0.06015168 0.07524304 0.979447 0.9303592 NA 0.06769736 NA FALSE NA 0 -2.221 . intron_variant MODIFIER SEMA4C HGNC 10731 ENST00000442264 3/6 rs201331904 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGA G,A 2.471e-05 2:96865975 SEMA4C HGNC Symbol protein_coding 11041 ENSG00000168758 ENSE00003509054 intron_variant 0.066483 0.11431 0.05081 0.115753 0.564065 0.0553521 0.9993731 TRUE 1.24431e-05 ENSE00002373424_000 ENSE00002373424 000 2 74884632 74884801 + 60 60 50 NA NA NA NA NA GGGCCAAGGTCTCAACTGACACTCAAGACAGGGCTCAGATTTACACCTACCTCTTTCTTGCCTTTCTTCCTACAGTTCTGTCTGTGAGCCTCAGGAACCATCCAGTCAATCTGAGAAAGGAGAAGTGATCATTTCACCCAGATTCCCCTAACATCAAACTCCCTCGATGT 74657504 74657674 NA NA NA NA NA NA ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC natural 86 92 0.9929816 0.9929036 0.9929426 5594 2297 0.953497 0.9704766 0.9619868 0.9929816 0.9929036 0.953497 0.9704766 0 0 0 0 0.9929426 0.9619868 0 0 0 FALSE FALSE NA NA NA NA NA SEMA4F NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEMA4F NA NA NA ENSG00000135622 ENSE00003668419 NA NA NA NA NA NA NA 6.7353e-10 FALSE NA ENSE00002373424_001 ENSE00002373424 001 2 74884632 74884801 + 60 60 50 T C 74884651 1843 20 GGGCCAAGGTCTCAACTGACACTCAAGACAGGGCTCAGATTTACACCTACCTCTTTCTTGCCTTTCTTCCTACAGTTCTGTCTGTGAGCCTCAGGAACCATCCAGTCAATCTGAGAAAGGAGAAGTGATCATTTCACCCAGATTCCCCTAGCATCAAACTCCCTCGATGT 74657504 74657674 74657523 74657524 74657524 upstr_intron -41 -0.6666667 ACATCGAGGGAGTTTGATGCTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 751 1048 0.9923642 0.9981479 0.9952561 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.03886724 0.02767129 0.9929426 0.9619868 NA 0.03326926 NA FALSE NA 0 -0.633 . intron_variant MODIFIER SEMA4F HGNC 10734 ENST00000453930 2/3 1 NA GTT T,C 8.236e-06 2:74657524 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 intron_variant -0.035933 0.18094 0.08935 0.053691 0.5286296 0.0500599 6.7353e-10 FALSE 4.06197e-06 ENSE00002373424_002 ENSE00002373424 002 2 74884632 74884801 + 60 60 50 C G 74884661 1844 30 GGGCCAAGGTCTCAACTGACACTCAAGACAGGGCTCAGATTTACACCTACCTCTTTCTTGCCTTTCTTCCTACAGTTCTGTCTGTGAGCCTCAGGAACCATCCAGTCAATCTGAGAAAGGAGAAGTGATCATTTCACCCACATTCCCCTAACATCAAACTCCCTCGATGT 74657504 74657674 74657533 74657534 74657534 upstr_intron -31 -0.5 ACATCGAGGGAGTTTGATGTTAGGGGAATGTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 957 2000 0.9981798 0.9982999 0.9982398 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.04468279 0.02782325 0.9929426 0.9619868 NA 0.03625302 NA FALSE NA 0.001 0.141 . intron_variant MODIFIER SEMA4F HGNC 10734 ENST00000453930 2/3 rs367600779 1 NA G:0.0002 G:0 TCT C,G 8.236e-06 2:74657534 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 intron_variant 0.316299 0.23124 0.15346 0.053691 0.635135 0.0757559 6.7353e-10 FALSE NA ENSE00002373424_004 ENSE00002373424 004 2 74884632 74884801 + 60 60 50 T C 74884674 1846 43 GGGCCAAGGTCTCAACTGACACTCAAGACAGGGCTCAGATTTACACCTACCTCTTTCTTGCCTTTCTTCCTACAGTTCTGTCTGTGAGCCTCAGGAACCATCCAGTCAATCTGAGAAAGGAGAAGTGGTCATTTCACCCAGATTCCCCTAACATCAAACTCCCTCGATGT 74657504 74657674 74657546 74657547 74657547 upstr_intron -18 -0.2833333 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGACCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 867 123 0.9989031 1 0.9994516 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.04540615 0.02952335 0.9929426 0.9619868 NA 0.03746475 NA FALSE NA 0 0.172 . intron_variant MODIFIER SEMA4F HGNC 10734 ENST00000453930 2/3 rs376622168 1 NA G:0 G:0.0001 ATC T,C 8.236e-06 2:74657547 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 intron_variant 0.004782 0.17294 0.07218 0.053691 0.6915771 0.0765606 6.7353e-10 FALSE 4.06081e-06 ENSE00002373424_007 ENSE00002373424 007 2 74884632 74884801 + 60 60 50 C T 74884697 1849 66 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGATTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC 74657504 74657674 74657569 74657570 74657570 exon 6 0.1 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGATTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 45 103 0.9231806 0.8024493 0.8628149 0.9929816 0.9929036 0.953497 0.9704766 NA NA -0.03031642 -0.1680274 0.9929426 0.9619868 NA -0.0991719 NA FALSE NA 1 0.865 NA NA NA SEMA4F NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:74657570 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 synonymous_variant 1.199982 0.89969 0.52679 0.638212 0.5206301 0 6.7353e-10 FALSE 4.06068e-06 ENSE00002373424_009 ENSE00002373424 009 2 74884632 74884801 + 60 60 50 G T 74884704 1851 73 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGTTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC 74657504 74657674 74657576 74657577 74657577 exon 13 0.2166667 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGTTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 868 1536 0.9881722 0.979705 0.9839386 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.03467524 0.00922837 0.9929426 0.9619868 NA 0.0219518 NA FALSE NA 1 4.489 . missense_variant MODERATE SEMA4F HGNC 10734 ENST00000453930 3/4 1 deleterious(0.01) probably_damaging(0.995) NA GGT G,T 8.236e-06 2:74657577 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 missense_variant 6.148408 0.94156 0.82969 0.638212 0.994052 0 6.7353e-10 FALSE 4.06075e-06 ENSE00002373424_010 ENSE00002373424 010 2 74884632 74884801 + 60 60 50 A G 74884723 1852 92 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACGGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC 74657504 74657674 74657595 74657596 74657596 exon -29 0.5333333 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACGGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 51 391 1 0.969563 0.9847815 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.04650303 -0.0009136277 0.9929426 0.9619868 NA 0.0227947 NA FALSE NA 1 2.749 . missense_variant MODERATE SEMA4F HGNC 10734 ENST00000453930 3/4 1 tolerated(0.37) benign(0.314) NA CAG A,G 8.237e-06 2:74657596 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 missense_variant 1.181722 0.89764 0.67146 0.638212 0.9962958 0 6.7353e-10 FALSE 4.06072e-06 ENSE00002373424_011 ENSE00002373424 011 2 74884632 74884801 + 60 60 50 C T 74884727 1853 96 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAATTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC 74657504 74657674 74657599 74657600 74657600 exon -25 0.6 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAATTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 357 4067 0.9666541 0.9634997 0.9650769 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.01315713 -0.006976948 0.9929426 0.9619868 NA 0.003090088 NA FALSE NA 1 3.548 . synonymous_variant LOW SEMA4F HGNC 10734 ENST00000453930 3/4 1 NA ACT C,T 8.236e-06 2:74657600 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 synonymous_variant 0.995189 0.9395 0.76044 0.638212 0.6671827 0 6.7353e-10 FALSE 4.06065e-06 ENSE00002373424_013 ENSE00002373424 013 2 74884632 74884801 + 60 60 50 C G 74884742 1855 111 GGGCCAAGGTCTCAACTGACACTCAAGACAGGGCTCAGATTTACACCTACCTCTTTCTTCCCTTTCTTCCTACAGTTCTGTCTGTGAGCCTCAGGAACCATCCAGTCAATCTGAGAAAGGAGAAGTGATCATTTCACCCAGATTCCCCTAACATCAAACTCCCTCGATGT 74657504 74657674 74657614 74657615 74657615 exon -10 0.85 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGGAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 73 611 0.9137081 0.9804162 0.9470621 0.9929816 0.9929036 0.953497 0.9704766 NA NA -0.03978892 0.009939594 0.9929426 0.9619868 NA -0.01492466 NA FALSE NA 1 0.787 . synonymous_variant LOW SEMA4F HGNC 10734 ENST00000453930 3/4 rs200871087 1 NA GCA C,G 8.236e-05 2:74657615 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 synonymous_variant 1.037057 0.90571 0.64455 0.638212 0.7219914 0 6.7353e-10 FALSE 9.74556e-05 ENSE00002373424_014 ENSE00002373424 014 2 74884632 74884801 + 60 60 50 A G 74884748 1856 117 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAGGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC 74657504 74657674 74657620 74657621 74657621 exon -4 0.95 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAGGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 146 1358 0.9918304 0.9980785 0.9949544 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.0383334 0.02760185 0.9929426 0.9619868 NA 0.03296763 NA FALSE NA 1 2.061 . synonymous_variant LOW SEMA4F HGNC 10734 ENST00000453930 3/4 rs375005662 1 NA G:0 G:0.0001 AAG A,G 2.471e-05 2:74657621 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 synonymous_variant -0.175223 0.88084 0.1806 0.638212 0.5573858 0 6.7353e-10 FALSE 8.12123e-06 ENSE00002373424_016 ENSE00002373424 016 2 74884632 74884801 + 60 60 50 A G 74884761 1858 130 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAGATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC 74657504 74657674 74657633 74657634 74657634 downstr_intron 10 1.204082 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAGATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 50 922 0.7586826 0.8094187 0.7840506 0.9929816 0.9929036 0.953497 0.9704766 NA NA -0.1948144 -0.161058 0.9929426 0.9619868 NA -0.1779362 NA FALSE NA 0.001 1.129 . intron_variant MODIFIER SEMA4F HGNC 10734 ENST00000453930 3/3 1 NA AAA A,G 8.236e-06 2:74657634 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 intron_variant 0.474266 0.23011 0.07981 0.078448 0.692079 0.10762 6.7353e-10 FALSE 8.12123e-06 ENSE00002373424_017 ENSE00002373424 017 2 74884632 74884801 + 60 60 50 C T 74884770 1859 139 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCTCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC 74657504 74657674 74657642 74657643 74657643 downstr_intron 19 1.387755 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCTCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 1681 518 0.9982736 1 0.9991368 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.04477661 0.02952335 0.9929426 0.9619868 NA 0.03714998 NA FALSE NA 0 0.54 rs78061791 intron_variant MODIFIER SEMA4F HGNC 10734 ENST00000453930 3/3 rs78061791 1 T:0.0032 T:0.0121 T:0 NA T:0 T:0 T:0 T:0.0079 T:0 CCC C,T 0.0007248 2:74657643 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 intron_variant 0.282137 0.24342 0.06292 0.078448 0.3228225 0.0961846 6.7353e-10 FALSE 0.000491367 ENSE00002373424_018 ENSE00002373424 018 2 74884632 74884801 + 60 60 50 A G 74884790 1860 159 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGGGACCTTGGCCC 74657504 74657674 74657662 74657663 74657663 downstr_intron 39 1.795918 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGGGACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 468 617 1 0.9956273 0.9978136 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.04650303 0.02515062 0.9929426 0.9619868 NA 0.03582682 NA FALSE NA 0.002 0.718 . intron_variant MODIFIER SEMA4F HGNC 10734 ENST00000453930 3/3 1 NA GAG A,G 8.236e-06 2:74657663 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 intron_variant 0.622652 0.24728 0.06709 0.078448 0.8595609 0.0764611 6.7353e-10 FALSE 4.06194e-06 ENSE00002373424_019 ENSE00002373424 019 2 74884632 74884801 + 60 60 50 G A 74884791 1861 160 GGGCCAAGGTTTCAACTGACACTCAAGACAGGGCTCAGATTTACACCTACCTCTTTCTTGCCTTTCTTCCTACAGTTCTGTCTGTGAGCCTCAGGAACCATCCAGTCAATCTGAGAAAGGAGAAGTGATCATTTCACCCAGATTCCCCTAACATCAAACTCCCTCGATGT 74657504 74657674 74657663 74657664 74657664 downstr_intron 40 1.816327 ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAAACCTTGGCCC ACATCGAGGGAGTTTGATGTTAGGGGAATCTGGGTGAAATGATCACTTCTCCTTTCTCAGATTGACTGGATGGTTCCTGAGGCTCACAGACAGAACTGTAGGAAGAAAGGCAAGAAAGAGGTAGGTGTAAATCTGAGCCCTGTCTTGAGTGTCAGTTGAGACCTTGGCCC mutant NA NA NA NA NA 531 768 0.9949718 0.9999504 0.9974611 0.9929816 0.9929036 0.953497 0.9704766 NA NA 0.04147483 0.02947379 0.9929426 0.9619868 NA 0.03547431 NA FALSE NA 0.001 0.205 . intron_variant MODIFIER SEMA4F HGNC 10734 ENST00000453930 3/3 1 NA AGA G,A 1.647e-05 2:74657664 SEMA4F HGNC Symbol protein_coding 29625 ENSG00000135622 ENSE00003668419 intron_variant 0.437437 0.20799 0.06637 0.078448 0.6422091 0.0764611 6.7353e-10 FALSE 8.12414e-06 ENSE00002373484_000 ENSE00002373484 000 2 72786537 72786706 - 45 69 56 NA NA NA NA NA GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 NA NA NA NA NA NA GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT natural NA NA NA NA NA 470 1754 0.9505609 0.8616737 0.9061173 NA NA 0.9505609 0.8616737 NA NA 0 0 NA 0.9061173 NA 0 NA FALSE NA NA NA NA NA NA EXOC6B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EXOC6B NA NA NA ENSG00000144036 ENSE00003520282 NA NA NA NA NA NA NA 0.6662981 FALSE NA ENSE00002373484_001 ENSE00002373484 001 2 72786537 72786706 - 45 69 56 T C 72786550 1632 157 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGGTGTCCATTGAGTT 72559407 72559577 72559420 72559421 72559421 downstr_intron 32 1.727273 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGGTGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 647 29 0.9985922 1 0.9992961 NA NA 0.9505609 0.8616737 NA NA 0.04803129 0.1383263 NA 0.9061173 NA 0.09317878 NA FALSE NA 0 -0.835 . intron_variant MODIFIER EXOC6B HGNC 17085 ENST00000410104 8/17 1 NA ATC T,C 2.484e-05 2:72559421 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 intron_variant 0.163354 0.12314 0.03432 0.078448 0.6460979 0.0851739 0.6662981 FALSE 1.65647e-05 ENSE00002373484_004 ENSE00002373484 004 2 72786537 72786706 - 45 69 56 T C 72786571 1635 136 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTGTCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559441 72559442 72559442 downstr_intron 11 1.25 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTGTCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 35 520 1 1 1 NA NA 0.9505609 0.8616737 NA NA 0.04943909 0.1383263 NA 0.9061173 NA 0.09388268 NA FALSE NA 0.001 -0.303 . intron_variant MODIFIER EXOC6B HGNC 17085 ENST00000410104 8/17 1 NA ATA T,C 8.28e-06 2:72559442 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 intron_variant 1.051222 0.20921 0.04599 0.078448 0.6930524 0.242808 0.6662981 FALSE NA ENSE00002373484_005 ENSE00002373484 005 2 72786537 72786706 - 45 69 56 G A 72786584 1636 123 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCTTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559454 72559455 72559455 exon -3 0.9710145 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCTTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 232 20 0.9966807 1 0.9983404 NA NA 0.9505609 0.8616737 NA NA 0.04611984 0.1383263 NA 0.9061173 NA 0.09222305 NA FALSE NA 1 3.08 . splice_region_variant&synonymous_variant LOW EXOC6B HGNC 17085 ENST00000410104 8/18 COSM3583088 1 NA AGG G,A 9.108e-05 2:72559455 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 splice_region_variant 1.654131 0.92011 0.80477 0.706298 0.7933014 0 0.6662981 FALSE 8.36344e-05 ENSE00002373484_006 ENSE00002373484 006 2 72786537 72786706 - 45 69 56 A G 72786588 1637 119 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCCGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559458 72559459 72559459 exon -7 0.9130435 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCCGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 81 348 0.9981027 0.9958876 0.9969952 NA NA 0.9505609 0.8616737 NA NA 0.0475418 0.1342139 NA 0.9061173 NA 0.09087784 NA FALSE NA 1 1.628 . synonymous_variant LOW EXOC6B HGNC 17085 ENST00000410104 8/18 1 NA CAG A,G 8.28e-06 2:72559459 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 synonymous_variant 0.335043 0.97994 0.84435 0.706298 0.7551538 0 0.6662981 FALSE 4.15994e-06 ENSE00002373484_008 ENSE00002373484 008 2 72786537 72786706 - 45 69 56 T G 72786600 1639 107 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTCCATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559470 72559471 72559471 exon -19 0.7391304 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTCCATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 252 57 1 1 1 NA NA 0.9505609 0.8616737 NA NA 0.04943909 0.1383263 NA 0.9061173 NA 0.09388268 NA FALSE NA 0.986 0.042 . synonymous_variant LOW EXOC6B HGNC 17085 ENST00000410104 8/18 1 NA GTA T,G 5.796e-05 2:72559471 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 synonymous_variant 1.015969 0.96258 0.66164 0.706298 0.7432557 0 0.6662981 FALSE 6.53323e-05 ENSE00002373484_009 ENSE00002373484 009 2 72786537 72786706 - 45 69 56 C T 72786607 1640 100 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCAATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559477 72559478 72559478 exon -26 0.6376812 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCAATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 98 80 1 0.996599 0.9982995 NA NA 0.9505609 0.8616737 NA NA 0.04943909 0.1349252 NA 0.9061173 NA 0.09218216 NA FALSE NA 1 5.325 . missense_variant MODERATE EXOC6B HGNC 17085 ENST00000410104 8/18 rs375877299&COSM1022720 1 deleterious(0) possibly_damaging(0.642) NA T:0 T:0.0002 TCG C,T 2.484e-05 2:72559478 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 missense_variant 6.019991 0.99083 0.95618 0.706298 0.9992511 0 0.6662981 FALSE 4.49442e-05 ENSE00002373484_011 ENSE00002373484 011 2 72786537 72786706 - 45 69 56 T A 72786615 1642 92 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCTGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559485 72559486 72559486 exon -34 0.5217391 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCTGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 499 316 1 0.9964803 0.9982402 NA NA 0.9505609 0.8616737 NA NA 0.04943909 0.1348066 NA 0.9061173 NA 0.09212285 NA FALSE NA 0.987 0.43 . synonymous_variant LOW EXOC6B HGNC 17085 ENST00000410104 8/18 1 NA CTG T,A 8.28e-06 2:72559486 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 synonymous_variant 1.572508 0.93185 0.20421 0.706298 0.7066738 0 0.6662981 FALSE NA ENSE00002373484_016 ENSE00002373484 016 2 72786537 72786706 - 45 69 56 C T 72786642 1647 65 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGAGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559512 72559513 72559513 exon 9 0.1304348 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGAGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 1677 14 0.9973393 1 0.9986697 NA NA 0.9505609 0.8616737 NA NA 0.04677843 0.1383263 NA 0.9061173 NA 0.09255235 NA FALSE NA 0.424 -0.975 NA NA NA EXOC6B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:72559513 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 synonymous_variant 1.977726 0.69398 0.04974 0.706298 0.5896113 0 0.6662981 FALSE 4.08918e-06 ENSE00002373484_017 ENSE00002373484 017 2 72786537 72786706 - 45 69 56 T C 72786648 1648 59 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTGCCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559518 72559519 72559519 exon 3 0.04347826 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTGCCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 240 615 1 0.9866534 0.9933267 NA NA 0.9505609 0.8616737 NA NA 0.04943909 0.1249797 NA 0.9061173 NA 0.08720938 NA FALSE NA 1 0.646 . splice_region_variant&synonymous_variant LOW EXOC6B HGNC 17085 ENST00000410104 8/18 1 NA GTA T,C 1.656e-05 2:72559519 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 splice_region_variant 1.426441 0.95368 0.59043 0.638212 0.7576208 0 0.6662981 FALSE 8.18545e-06 ENSE00002373484_020 ENSE00002373484 020 2 72786537 72786706 - 45 69 56 C T 72786660 1651 47 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTATGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559530 72559531 72559531 upstr_intron -10 -0.1607143 GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTATGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 606 514 0.9991822 0.9994055 0.9992938 NA NA 0.9505609 0.8616737 NA NA 0.04862131 0.1377317 NA 0.9061173 NA 0.09317653 NA FALSE NA 0 -1.164 . intron_variant MODIFIER EXOC6B HGNC 17085 ENST00000410104 7/17 1 NA ACA C,T 8.281e-06 2:72559531 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 intron_variant -0.003406 0.13855 0.02037 0.074636 0.493836 0.260829 0.6662981 FALSE NA ENSE00002373484_024 ENSE00002373484 024 2 72786537 72786706 - 45 69 56 T C 72786691 1655 16 GTAGTTGCTTTTAATGGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT 72559407 72559577 72559561 72559562 72559562 upstr_intron -41 -0.7142857 GTAGTTGCTTTTAATGGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT GTAGTTGCTTTTAATAGCTTTGTTTGAATTTTTTTGTTATAATCTTGTGTTTGCAGGTACCTGGGGCCCAAGATTTGGTGGATTTCTCTCCAGTTTATCGATGTCTACATATATATTCTGTCCTGGTGAGTCTTTATCTGGCTCTGCCTAATAAAGATGTCCATTGAGTT mutant NA NA NA NA NA 80 111 1 1 1 NA NA 0.9505609 0.8616737 NA NA 0.04943909 0.1383263 NA 0.9061173 NA 0.09388268 NA FALSE NA 0 0.191 . intron_variant MODIFIER EXOC6B HGNC 17085 ENST00000410104 7/17 1 NA CTA T,C 8.286e-06 2:72559562 EXOC6B HGNC Symbol protein_coding 650057 ENSG00000144036 ENSE00003520282 intron_variant 0.47333 0.26652 0.04228 0.074636 0.8495441 0.0832953 0.6662981 FALSE 4.47255e-06 ENSE00002373956_000 ENSE00002373956 000 17 18202831 18203000 - 42 75 53 NA NA NA NA NA TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 NA NA NA NA NA NA TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT natural 16 45 0.996404 0.989583 0.9929935 2517 1609 0.9173627 0.8628031 0.8900829 0.996404 0.989583 0.9173627 0.8628031 0 0 0 0 0.9929935 0.8900829 0 0 0 FALSE FALSE NA NA NA NA NA TOP3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOP3A NA NA NA ENSG00000177302 ENSE00003681199 NA NA NA NA NA NA NA 2.636304e-08 FALSE NA ENSE00002373956_001 ENSE00002373956 001 17 18202831 18203000 - 42 75 53 C T 18202841 969 160 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCAGGGAACACTT 18299516 18299686 18299526 18299527 18299527 downstr_intron 32 1.780488 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCAGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 196 398 0.9871491 0.9897332 0.9884411 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.06978647 0.1269301 0.9929935 0.8900829 NA 0.09835827 NA FALSE NA 0 -0.667 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA CCG C,T 8.236e-06 17:18299527 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 intron_variant -0.14506 0.09023 0.00147 0.156188 0.5527388 0.0490032 2.636304e-08 FALSE 8.1316e-06 ENSE00002373956_002 ENSE00002373956 002 17 18202831 18203000 - 42 75 53 G A 18202842 970 159 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTTGGGGAACACTT 18299516 18299686 18299527 18299528 18299528 downstr_intron 31 1.756098 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTTGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 168 2400 0.9947395 0.9895843 0.9921619 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.07737682 0.1267812 0.9929935 0.8900829 NA 0.102079 NA FALSE NA 0 -1.683 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA CGA C,A 8.236e-06 17:18299528 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 intron_variant -0.170685 0.12216 0.01516 0.156188 0.9182327 0.0490032 2.636304e-08 FALSE 1.21924e-05 ENSE00002373956_003 ENSE00002373956 003 17 18202831 18203000 - 42 75 53 G A 18202846 971 155 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGTACTCGGGGAACACTT 18299516 18299686 18299531 18299532 18299532 downstr_intron 27 1.658537 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGTACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 1114 1845 0.8190187 0.9972918 0.9081553 0.996404 0.989583 0.9173627 0.8628031 NA NA -0.09834395 0.1344887 0.9929935 0.8900829 NA 0.01807237 NA FALSE NA 0 -0.134 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA TGC G,A 8.236e-06 17:18299532 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 intron_variant 0.453724 0.2414 0.02538 0.295142 0.6809065 0.610957 2.636304e-08 FALSE 4.06329e-06 ENSE00002373956_004 ENSE00002373956 004 17 18202831 18203000 - 42 75 53 G A 18202860 972 141 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGATAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299545 18299546 18299546 downstr_intron 13 1.317073 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGATAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 900 65 0.9999543 1 0.9999771 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.08259159 0.1371969 0.9929935 0.8900829 NA 0.1098942 NA FALSE NA 0 -1.506 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA TGT G,A 2.471e-05 17:18299546 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 intron_variant 0.16588 0.10192 0.01124 0.295142 0.5483722 0.111766 2.636304e-08 FALSE NA ENSE00002373956_005 ENSE00002373956 005 17 18202831 18203000 - 42 75 53 G T 18202865 973 136 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTACAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299550 18299551 18299551 downstr_intron 8 1.195122 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTACAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 135 290 0.8589721 0.9973314 0.9281518 0.996404 0.989583 0.9173627 0.8628031 NA NA -0.05839056 0.1345284 0.9929935 0.8900829 NA 0.0380689 NA FALSE NA 0.998 2.895 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA GGA G,T 8.236e-06 17:18299551 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 splice_region_variant 0.36318 0.25842 0.71417 0.295142 0.6627375 0.200729 2.636304e-08 FALSE 4.06124e-06 ENSE00002373956_006 ENSE00002373956 006 17 18202831 18203000 - 42 75 53 C T 18202872 974 129 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGATATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299557 18299558 18299558 downstr_intron 1 1.02439 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGATATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant 60 100 0.8284494 0.8169685 0.8227089 350 128 0.0008580829 0 0.0004290415 0.996404 0.989583 0.9173627 0.8628031 -0.1679547 -0.1726145 -0.9165046 -0.8628031 0.9929935 0.8900829 -0.1702846 -0.8896538 0.7193693 TRUE FALSE 1 7.61 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA ACC C,T 8.236e-06 17:18299558 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 splice_donor_variant 6.30836 0.99503 0.99369 0.295142 0.9952516 0.991149 2.636304e-08 FALSE 8.12189e-06 ENSE00002373956_007 ENSE00002373956 007 17 18202831 18203000 - 42 75 53 C G 18202875 975 126 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTCTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299560 18299561 18299561 exon -3 0.9733333 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTCTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 1321 1794 0.9652619 0.9726544 0.9689581 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.04789917 0.1098513 0.9929935 0.8900829 NA 0.07887525 NA FALSE NA 1 7.61 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA ACA C,G 8.236e-06 17:18299561 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant 6.703103 0.99528 0.99515 0.706548 0.9761691 0 2.636304e-08 FALSE 4.06085e-06 ENSE00002373956_009 ENSE00002373956 009 17 18202831 18203000 - 42 75 53 C A 18202881 977 120 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGTACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299566 18299567 18299567 exon -9 0.8933333 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGTACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 408 173 0.1378231 0.0843633 0.1110932 0.996404 0.989583 0.9173627 0.8628031 NA NA -0.7795396 -0.7784398 0.9929935 0.8900829 NA -0.7789897 NA TRUE NA 1 7.61 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA TCC C,A 8.236e-06 17:18299567 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant 7.320004 0.99523 0.99489 0.706548 0.9623872 0 2.636304e-08 FALSE 4.06065e-06 ENSE00002373956_010 ENSE00002373956 010 17 18202831 18203000 - 42 75 53 G C 18202885 978 116 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCGTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299570 18299571 18299571 exon -13 0.84 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCGTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 628 23 0.999145 1 0.9995725 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.08178229 0.1371969 0.9929935 0.8900829 NA 0.1094896 NA FALSE NA 0.091 -0.384 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA AGG G,C 8.236e-06 17:18299571 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 synonymous_variant 0.777111 0.5875 0.19977 0.706548 0.6197125 0 2.636304e-08 FALSE 4.06062e-06 ENSE00002373956_011 ENSE00002373956 011 17 18202831 18203000 - 42 75 53 G A 18202886 979 115 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGTCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299571 18299572 18299572 exon -14 0.8266667 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGTCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant 26 22 0.85 0.85 0.85 216 83 0.7817495 0.8 0.7908747 0.996404 0.989583 0.9173627 0.8628031 -0.146404 -0.139583 -0.1356132 -0.06280309 0.9929935 0.8900829 -0.1429935 -0.09920815 0.04378538 FALSE FALSE 1 9.598 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA GGC G,A 8.236e-06 17:18299572 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant 7.289098 0.99515 0.99612 0.706548 0.9866441 0 2.636304e-08 FALSE 4.06065e-06 ENSE00002373956_012 ENSE00002373956 012 17 18202831 18203000 - 42 75 53 G T 18202896 980 105 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGAGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299581 18299582 18299582 exon -24 0.6933333 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGAGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 119 286 0.9547042 1 0.9773521 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.03734154 0.1371969 0.9929935 0.8900829 NA 0.08726923 NA FALSE NA 1 2.646 rs138933272 downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 rs138933272&COSM182179 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 CGC G,T 2.471e-05 17:18299582 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 synonymous_variant 1.656053 0.95834 0.35056 0.706548 0.6955769 0 2.636304e-08 FALSE 1.62426e-05 ENSE00002373956_013 ENSE00002373956 013 17 18202831 18203000 - 42 75 53 A G 18202899 981 102 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGCGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299584 18299585 18299585 exon -27 0.6533333 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGCGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 322 295 0.9975461 1 0.998773 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.08018341 0.1371969 0.9929935 0.8900829 NA 0.1086902 NA FALSE NA 1 9.085 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA CAC A,G 8.236e-06 17:18299585 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant 6.067165 0.99341 0.99595 0.706548 0.9803539 0 2.636304e-08 FALSE 4.06058e-06 ENSE00002373956_015 ENSE00002373956 015 17 18202831 18203000 - 42 75 53 A T 18202917 983 84 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGAACTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299602 18299603 18299603 exon 31 0.4133333 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGAACTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 11 1291 1 1 1 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.08263732 0.1371969 0.9929935 0.8900829 NA 0.1099171 NA FALSE NA 0.998 3.358 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 rs368476765 1 NA T:0.0002 T:0 GAT A,T 1.647e-05 17:18299603 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant 1.925703 0.97824 0.81254 0.706548 0.8541421 0 2.636304e-08 FALSE 8.12117e-06 ENSE00002373956_016 ENSE00002373956 016 17 18202831 18203000 - 42 75 53 C T 18202923 984 78 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGATCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299608 18299609 18299609 exon 25 0.3333333 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGATCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 181 195 1 0.9991881 0.999594 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.08263732 0.136385 0.9929935 0.8900829 NA 0.1095112 NA FALSE NA 1 3.87 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA ACC C,T 8.236e-06 17:18299609 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant 3.616978 0.9916 0.9773 0.706548 0.9643487 0 2.636304e-08 FALSE 8.12117e-06 ENSE00002373956_017 ENSE00002373956 017 17 18202831 18203000 - 42 75 53 C T 18202929 985 72 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGATAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299614 18299615 18299615 exon 19 0.2533333 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGATAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 631 551 0.9073925 1 0.9536962 0.996404 0.989583 0.9173627 0.8628031 NA NA -0.009970195 0.1371969 0.9929935 0.8900829 NA 0.06361336 NA FALSE NA 1 2.841 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA ACC C,T 2.471e-05 17:18299615 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant 3.061182 0.98441 0.91174 0.706548 0.9694583 0 2.636304e-08 FALSE 1.21818e-05 ENSE00002373956_018 ENSE00002373956 018 17 18202831 18203000 - 42 75 53 C T 18202930 986 71 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTAGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299615 18299616 18299616 exon 18 0.24 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTAGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 906 633 0.94126 0.9400457 0.9406529 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.02389735 0.07724262 0.9929935 0.8900829 NA 0.05056999 NA FALSE NA 0.942 0.031 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA CCA C,T 1.647e-05 17:18299616 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 synonymous_variant 1.706265 0.9692 0.80349 0.706548 0.6808644 0 2.636304e-08 FALSE 2.43637e-05 ENSE00002373956_019 ENSE00002373956 019 17 18202831 18203000 - 42 75 53 C T 18202938 987 63 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGACAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299623 18299624 18299624 exon 10 0.1333333 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGACAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 67 523 0.9650832 0.9965678 0.9808255 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.04772051 0.1337647 0.9929935 0.8900829 NA 0.09074261 NA FALSE NA 1 7.61 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA GCC C,T 3.295e-05 17:18299624 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant 7.34495 0.99504 0.99369 0.706548 0.9787963 0 2.636304e-08 FALSE 2.84252e-05 ENSE00002373956_020 ENSE00002373956 020 17 18202831 18203000 - 42 75 53 A G 18202940 988 61 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCACGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299625 18299626 18299626 exon 8 0.1066667 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCACGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 299 65 1 1 1 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.08263732 0.1371969 0.9929935 0.8900829 NA 0.1099171 NA FALSE NA 0.018 0.942 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA CAT A,G 8.236e-06 17:18299626 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 missense_variant -0.148672 0.63601 0.23103 0.706548 0.6479252 0 2.636304e-08 FALSE 4.06078e-06 ENSE00002373956_021 ENSE00002373956 021 17 18202831 18203000 - 42 75 53 G A 18202955 989 46 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGTTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299640 18299641 18299641 upstr_intron -8 -0.1320755 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGTTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 41 131 0.991683 1 0.9958415 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.07432028 0.1371969 0.9929935 0.8900829 NA 0.1057586 NA FALSE NA 0.974 0.086 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:18299641 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 splice_region_variant 0.37536 0.26354 0.07377 0.099367 0.5768353 0.265647 2.636304e-08 FALSE 6.49773e-05 ENSE00002373956_022 ENSE00002373956 022 17 18202831 18203000 - 42 75 53 G C 18202955 990 46 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGGTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299640 18299641 18299641 upstr_intron -8 -0.1320755 TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGGTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 595 831 0.8110283 0.8006083 0.8058183 0.996404 0.989583 0.9173627 0.8628031 NA NA -0.1063344 -0.06219476 0.9929935 0.8900829 NA -0.08426459 NA FALSE NA 0.974 0.086 NA NA NA TOP3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TOP3A NA NA NA ENSG00000177302 ENSE00003681199 splice_region_variant -0.036788 0.26717 0.07783 0.099367 0.6272113 0.265647 2.636304e-08 FALSE 4.06108e-06 ENSE00002373956_025 ENSE00002373956 025 17 18202831 18203000 - 42 75 53 G C 18202969 993 32 TGGAGATGATGCACTAACAGGTTAACATGGTGTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299654 18299655 18299655 upstr_intron -22 -0.3962264 TGGAGATGATGCACTAACAGGTTAACATGGTGTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 184 25 0.9661007 1 0.9830504 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.04873806 0.1371969 0.9929935 0.8900829 NA 0.09296748 NA FALSE NA 0.001 0.1 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA AGA G,C 8.236e-06 17:18299655 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 intron_variant -0.058638 0.20827 0.19029 0.099367 0.5624935 0.210426 2.636304e-08 FALSE 4.06138e-06 ENSE00002373956_026 ENSE00002373956 026 17 18202831 18203000 - 42 75 53 T C 18202974 994 27 TGGAGATGATGCACTAACAGGTTAACGTGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT 18299516 18299686 18299659 18299660 18299660 upstr_intron -27 -0.490566 TGGAGATGATGCACTAACAGGTTAACGTGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT TGGAGATGATGCACTAACAGGTTAACATGGTCTTTTCTTTCCTGGCTTTCTAGGATCCCATGGCAACTGTGGTAGAGGTCAGATCTAAGCCCAAGAGCAAGTGGCGGCCTCAAGCCTTGGACACTGTGGTATGTTCCAGACAGGCTGTTTCAGGCACTCGGGGAACACTT mutant NA NA NA NA NA 84 53 0.9750458 0.8945962 0.934821 0.996404 0.989583 0.9173627 0.8628031 NA NA 0.05768313 0.03179311 0.9929935 0.8900829 NA 0.04473812 NA FALSE NA 0 -0.676 . downstream_gene_variant MODIFIER TOP3A HGNC 11992 ENST00000461127 1 NA ATG T,C 3.295e-05 17:18299660 TOP3A HGNC Symbol protein_coding 43579 ENSG00000177302 ENSE00003681199 intron_variant 0.053447 0.1066 0.01473 0.099367 0.5374911 0.061919 2.636304e-08 FALSE 2.03085e-05 ENSE00002373988_000 ENSE00002373988 000 17 40765618 40765787 + 47 87 36 NA NA NA NA NA TGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAG 42613599 42613769 NA NA NA NA NA NA TGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAG TGTTTTTCTTATCCCCATTGATCTGTGATCCTCTTCTGTCCCCCCAGGTGGTGCTGGACAACACAGCCCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCAACCAGCTGGTGGGCCCCCACTCCTGGACTCCTTTGGACTTGAAG natural 33 25 0.9935365 0.9415747 0.9675556 10 173 0.8253303 0.8637343 0.8445323 0.9935365 0.9415747 0.8253303 0.8637343 0 0 0 0 0.9675556 0.8445323 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003564318 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00002374011_000 ENSE00002374011 000 2 238455198 238455367 + 51 78 41 NA NA NA NA NA CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 NA NA NA NA NA NA CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG natural 60 119 0.9991048 0.9947578 0.9969313 3551 2425 0.9913297 0.9873084 0.989319 0.9991048 0.9947578 0.9913297 0.9873084 0 0 0 0 0.9969313 0.989319 0 0 0 FALSE FALSE NA NA NA NA NA MLPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MLPH NA NA NA ENSG00000115648 ENSE00003500889 NA NA NA NA NA NA NA 0.00125355 FALSE NA ENSE00002374011_001 ENSE00002374011 001 2 238455198 238455367 + 51 78 41 T A 238455221 5834 24 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTTTTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546577 237546578 237546578 upstr_intron -28 -0.5294118 CCCTGTGGCTGGAGGTTCAACAAAAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 609 546 0.9933877 0.9997102 0.996549 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.002058084 0.01240182 0.9969313 0.989319 NA 0.007229954 NA FALSE NA 0 -1.379 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000434770 2/5 1 NA ATA T,A 1.647e-05 2:237546578 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 non_coding_transcript_exon_variant 0.361027 0.19788 0.06936 0.078448 0.7590493 0.0517213 0.00125355 FALSE 1.21844e-05 ENSE00002374011_002 ENSE00002374011 002 2 238455198 238455367 + 51 78 41 A G 238455225 5835 28 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTACGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546581 237546582 237546582 upstr_intron -24 -0.4509804 CCCTGTGGCTGGAGGTTCAACAATAACGTAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 641 168 0.9970787 1 0.9985393 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.005749019 0.01269159 0.9969313 0.989319 NA 0.009220305 NA FALSE NA 0 -1.748 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000434770 2/5 1 NA CAT A,G 8.236e-06 2:237546582 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 non_coding_transcript_exon_variant -0.297083 0.13345 0.00416 0.078448 0.5614918 0.0525144 0.00125355 FALSE 1.21831e-05 ENSE00002374011_003 ENSE00002374011 003 2 238455198 238455367 + 51 78 41 C A 238455233 5836 36 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAATAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546589 237546590 237546590 upstr_intron -16 -0.2941176 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTATTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 529 235 0.999376 1 0.999688 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.008046314 0.01269159 0.9969313 0.989319 NA 0.01036895 NA FALSE NA 0 -0.147 NA NA NA MLPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237546590 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 non_coding_transcript_exon_variant -0.023427 0.22767 0.08562 0.078448 0.2922678 0.0525144 0.00125355 FALSE 3.24868e-05 ENSE00002374011_005 ENSE00002374011 005 2 238455198 238455367 + 51 78 41 T C 238455238 5838 41 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAGAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546594 237546595 237546595 upstr_intron -11 -0.1960784 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTCTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 1748 638 0.9999123 1 0.9999562 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.008582663 0.01269159 0.9969313 0.989319 NA 0.01063713 NA FALSE NA 0 0.016 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000434770 2/5 1 NA TTT T,C 2.471e-05 2:237546595 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 non_coding_transcript_exon_variant -0.199958 0.17518 0.03605 0.078448 0.5611052 0.156071 0.00125355 FALSE 2.03039e-05 ENSE00002374011_006 ENSE00002374011 006 2 238455198 238455367 + 51 78 41 C T 238455241 5839 44 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGACAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546597 237546598 237546598 upstr_intron -8 -0.1372549 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGTCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 556 1960 0.9994064 0.9945957 0.997001 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.008076695 0.007287265 0.9969313 0.989319 NA 0.00768198 NA FALSE NA 0.001 -0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237546598 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 splice_region_variant 0.491543 0.67576 0.01049 0.078448 0.4835431 0.222078 0.00125355 FALSE 0.00304561 ENSE00002374011_007 ENSE00002374011 007 2 238455198 238455367 + 51 78 41 C G 238455241 5840 44 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGCCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546597 237546598 237546598 upstr_intron -8 -0.1372549 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGGCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 657 1404 0.998442 0.9991827 0.9988123 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.007112335 0.01187424 0.9969313 0.989319 NA 0.009493289 NA FALSE NA 0.001 -0.85 NA NA NA MLPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MLPH NA NA NA ENSG00000115648 ENSE00003500889 splice_region_variant 0.241025 0.75509 0.0421 0.078448 0.5567251 0.222078 0.00125355 FALSE 4.06081e-06 ENSE00002374011_008 ENSE00002374011 008 2 238455198 238455367 + 51 78 41 C T 238455255 5841 58 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAAAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546611 237546612 237546612 exon 7 0.08974359 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTTTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 241 357 0.9975845 0.9907513 0.9941679 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.006254867 0.003442847 0.9969313 0.989319 NA 0.004848857 NA FALSE NA 0.939 0.998 rs150184334 missense_variant MODERATE MLPH HGNC 29643 ENST00000434770 3/6 rs150184334 1 tolerated(0.06) probably_damaging(0.923) NA T:0.0002 T:0 TCT C,T 1.647e-05 2:237546612 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 missense_variant 4.357144 0.87771 0.56222 0.706298 0.995576 0 0.00125355 FALSE 1.21819e-05 ENSE00002374011_009 ENSE00002374011 009 2 238455198 238455367 + 51 78 41 C G 238455261 5842 64 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCCAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546617 237546618 237546618 exon 13 0.1666667 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTGGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 341 1898 0.9959305 0.9979464 0.9969385 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.004600835 0.01063803 0.9969313 0.989319 NA 0.007619433 NA FALSE NA 0.093 1.638 . missense_variant MODERATE MLPH HGNC 29643 ENST00000434770 3/6 rs560560352 1 deleterious(0.03) probably_damaging(0.96) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCG C,G 0.0001153 2:237546618 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 missense_variant 3.668719 0.34103 0.16581 0.706298 0.98601 0 0.00125355 FALSE 0.000166484 ENSE00002374011_010 ENSE00002374011 010 2 238455198 238455367 + 51 78 41 G A 238455262 5843 65 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTTGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546618 237546619 237546619 exon 14 0.1794872 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCAAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 635 157 0.8465764 1 0.9232882 0.9991048 0.9947578 0.9913297 0.9873084 NA NA -0.1447532 0.01269159 0.9969313 0.989319 NA -0.06603082 NA FALSE NA 0.093 1.588 . missense_variant MODERATE MLPH HGNC 29643 ENST00000434770 3/6 1 tolerated(0.21) benign(0.209) NA CGA G,A 8.236e-06 2:237546619 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 missense_variant 1.589945 0.2049 0.0896 0.706298 0.8182684 0 0.00125355 FALSE 1.62426e-05 ENSE00002374011_011 ENSE00002374011 011 2 238455198 238455367 + 51 78 41 G T 238455267 5844 70 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGACACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546623 237546624 237546624 exon 19 0.2435897 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGTCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 91 350 1 0.9970091 0.9985045 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.00867034 0.009700678 0.9969313 0.989319 NA 0.009185509 NA FALSE NA 0 0.009 . missense_variant MODERATE MLPH HGNC 29643 ENST00000434770 3/6 1 tolerated(0.28) benign(0.234) NA GGC G,T 5.765e-05 2:237546624 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 missense_variant 0.366444 0.21892 0.06656 0.706298 0.8105807 0 0.00125355 FALSE 3.2486e-05 ENSE00002374011_012 ENSE00002374011 012 2 238455198 238455367 + 51 78 41 C A 238455281 5845 84 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTTCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546637 237546638 237546638 exon 33 0.4230769 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGAAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 45 24 0.9640809 0.9865868 0.9753339 0.9991048 0.9947578 0.9913297 0.9873084 NA NA -0.02724873 -0.0007215915 0.9969313 0.989319 NA -0.01398516 NA FALSE NA 0.001 0.993 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237546638 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 synonymous_variant 0.673417 0.24848 0.07987 0.706298 0.3106749 0 0.00125355 FALSE 1.6243e-05 ENSE00002374011_014 ENSE00002374011 014 2 238455198 238455367 + 51 78 41 C G 238455289 5847 92 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTCGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546645 237546646 237546646 exon -38 0.525641 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACGAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 952 64 0.9957314 1 0.9978657 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.004401728 0.01269159 0.9969313 0.989319 NA 0.008546659 NA FALSE NA 0 0.539 NA NA NA MLPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237546646 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 missense_variant 2.99364 0.25889 0.11275 0.706298 0.9907953 0 0.00125355 FALSE 4.06058e-06 ENSE00002374011_016 ENSE00002374011 016 2 238455198 238455367 + 51 78 41 T C 238455302 5849 105 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCGTTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546658 237546659 237546659 exon -25 0.6923077 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAACGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 87 4400 1 0.999539 0.9997695 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.00867034 0.01223059 0.9969313 0.989319 NA 0.01045046 NA FALSE NA 0 -1.804 . synonymous_variant LOW MLPH HGNC 29643 ENST00000434770 3/6 1 NA ATG T,C 8.236e-06 2:237546659 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 synonymous_variant -0.843127 0.13528 0.01812 0.706298 0.3112475 0 0.00125355 FALSE 8.12123e-06 ENSE00002374011_017 ENSE00002374011 017 2 238455198 238455367 + 51 78 41 G A 238455318 5850 121 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATACCTTGGCCTTACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546674 237546675 237546675 exon -9 0.8974359 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTAAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 178 328 1 0.9950965 0.9975483 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.00867034 0.007788099 0.9969313 0.989319 NA 0.008229219 NA FALSE NA 0.047 0.482 . missense_variant MODERATE MLPH HGNC 29643 ENST00000434770 3/6 rs200753921 1 tolerated(0.07) possibly_damaging(0.487) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0009 A:0.0001 TGA G,A 0.0001977 2:237546675 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 missense_variant 1.053142 0.24838 0.08799 0.706298 0.9250813 0 0.00125355 FALSE 0.000158364 ENSE00002374011_018 ENSE00002374011 018 2 238455198 238455367 + 51 78 41 G A 238455333 5851 136 CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAATACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546689 237546690 237546690 downstr_intron 7 1.175 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTATTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 85 1311 1 0.9995342 0.9997671 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.00867034 0.01222577 0.9969313 0.989319 NA 0.01044806 NA FALSE NA 0.139 0.371 . splice_region_variant&intron_variant LOW MLPH HGNC 29643 ENST00000434770 3/5 1 NA TGT G,A 8.236e-06 2:237546690 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 splice_region_variant 0.234421 0.25075 0.0982 0.078448 0.2941786 0.0540831 0.00125355 FALSE 4.06065e-06 ENSE00002374011_020 ENSE00002374011 020 2 238455198 238455367 + 51 78 41 T C 238455343 5853 146 CCTTTGTCGGGTGTCTGGGGCTTGGATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546699 237546700 237546700 downstr_intron 17 1.425 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATCCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 188 1737 1 0.9976432 0.9988216 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.00867034 0.01033484 0.9969313 0.989319 NA 0.009502589 NA FALSE NA 0 0.146 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000434770 3/5 1 NA TTC C,C 5.765e-05 2:237546700 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 intron_variant -0.077478 0.07313 0.00118 0.078448 0.324559 0.0540831 0.00125355 FALSE 3.24863e-05 ENSE00002374011_021 ENSE00002374011 021 2 238455198 238455367 + 51 78 41 C T 238455344 5854 147 CCTTTGTCGGGTGTCTGGGGCTTAAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546700 237546701 237546701 downstr_intron 18 1.45 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTTAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 1253 344 0.9850758 1 0.9925379 0.9991048 0.9947578 0.9913297 0.9873084 NA NA -0.006253824 0.01269159 0.9969313 0.989319 NA 0.003218883 NA FALSE NA 0 -0.532 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000434770 3/5 1 NA TCA C,T 1.647e-05 2:237546701 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 intron_variant 0.031278 0.2009 0.04021 0.078448 0.2541764 0.0540831 0.00125355 FALSE 8.12189e-06 ENSE00002374011_022 ENSE00002374011 022 2 238455198 238455367 + 51 78 41 C T 238455349 5855 152 CCTTTGTCGGGTGTCTGGAGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546705 237546706 237546706 downstr_intron 23 1.575 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCTCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 263 1197 1 0.9889054 0.9944527 0.9991048 0.9947578 0.9913297 0.9873084 NA NA 0.00867034 0.001597002 0.9969313 0.989319 NA 0.005133671 NA FALSE NA 0 -0.533 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000434770 3/5 1 NA CCC C,T 8.236e-06 2:237546706 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 intron_variant -0.034628 0.1248 0.01391 0.078448 0.4823203 0.0540831 0.00125355 FALSE 4.06088e-06 ENSE00002374011_023 ENSE00002374011 023 2 238455198 238455367 + 51 78 41 C T 238455351 5856 154 CCTTTGTCGGGTGTCTAGGGCTTGAATGGAGTAACACATACCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATCTGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 237546707 237546708 237546708 downstr_intron 25 1.625 CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCTAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG mutant NA NA NA NA NA 946 1772 0.9723008 0.9987325 0.9855167 0.9991048 0.9947578 0.9913297 0.9873084 NA NA -0.01902882 0.01142408 0.9969313 0.989319 NA -0.003802374 NA FALSE NA 0 -4.113 . intron_variant MODIFIER MLPH HGNC 29643 ENST00000434770 3/5 1 NA CCA C,T 8.236e-06 2:237546708 MLPH HGNC Symbol protein_coding 69890 ENSG00000115648 ENSE00003500889 intron_variant -0.357736 0.10212 0.00574 0.078448 0.4037955 0.0540831 0.00125355 FALSE 1.21826e-05 ENSE00002374011_BRK ENSE00002374011 BRK 2 238455198 238455367 + 51 78 41 A,G; T,T NA NA NA CCTTTGTCGGGTGTCTGGGGCTTGAATGGAGTAACACATGGCTTGGCCTCACTTGAAGGGTCTGCATTTGGGTCCTCTGGTCTCTTGCCAAGTTTCCCAGCCACTCGAGGGAGAAATATAAGGAGGGCAAAGAAGAGACTTATGTTATTGTTGAACCTCCAGCCACAGGG 237546554 237546724 NA NA NA NA NA NA CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCTTATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGCCATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG CCCTGTGGCTGGAGGTTCAACAATAACATAAGTCTCTTCTTTGCCCTCCAGATATTTCTCCCTCGAGTGGCTGGGAAACTTGGCAAGAGACCAGAGGACCCAAATGCAGACCCTTCAAGTGAGGCCAAGGTATGTGTTACTCCATTCAAGCCCCAGACACCCGACAAAGG control 49 23 0 0 0 197 87 0 0 0 0.9991048 0.9947578 0.9913297 0.9873084 -0.9991048 -0.9947578 -0.9913297 -0.9873084 0.9969313 0.989319 -0.9969313 -0.989319 0.007612241 TRUE TRUE NA NA NA NA NA MLPH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MLPH NA NA NA ENSG00000115648 ENSE00003500889 NA NA NA NA NA NA NA 0.00125355 FALSE NA ENSE00002374025_000 ENSE00002374025 000 5 151054125 151054294 - 48 63 59 NA NA NA NA NA TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT 151674563 151674733 NA NA NA NA NA NA TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT natural 52 49 0.9963803 0.9757783 0.9860793 1711 1090 0.8856726 0.9698274 0.92775 0.9963803 0.9757783 0.8856726 0.9698274 0 0 0 0 0.9860793 0.92775 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SPARC NA NA NA ENSG00000113140 ENSE00003477486 NA NA NA NA NA NA NA 0.8864941 FALSE NA ENSE00002374025_007 ENSE00002374025 007 5 151054125 151054294 - 48 63 59 G C 151054156 2009 139 TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACGGCAGCCCCTTAGCCCCTCTCTACCTGTATCT 151674563 151674733 151674594 151674595 151674595 downstr_intron 17 1.361702 TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACGGCAGCCCCTTAGCCCCTCTCTACCTGTATCT TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT mutant NA NA NA NA NA 216 61 0.9996183 1 0.9998092 0.9963803 0.9757783 0.8856726 0.9698274 NA NA 0.1139457 0.03017265 0.9860793 0.92775 NA 0.07205919 NA FALSE NA 0 0.484 NA NA NA SPARC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151674595 SPARC HGNC Symbol protein_coding 26069 ENSG00000113140 ENSE00003477486 intron_variant -0.031325 0.18513 0.15478 0.295142 0.6401309 0.0455939 0.8864941 FALSE 8.13068e-06 ENSE00002374025_017 ENSE00002374025 017 5 151054125 151054294 - 48 63 59 G T 151054220 2019 75 TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGACTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT 151674563 151674733 151674658 151674659 151674659 exon 16 0.2539683 TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGACTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT mutant NA NA NA NA NA 253 79 1 0.9979928 0.9989964 0.9963803 0.9757783 0.8856726 0.9698274 NA NA 0.1143274 0.02816541 0.9860793 0.92775 NA 0.07124641 NA FALSE NA 1 4.185 . missense_variant MODERATE SPARC HGNC 11219 ENST00000522348 4/5 1 deleterious(0.03) benign(0.055) NA GGC G,T 8.236e-06 5:151674659 SPARC HGNC Symbol protein_coding 26069 ENSG00000113140 ENSE00003477486 missense_variant 2.167305 0.94394 0.91261 0.706548 0.9805933 0 0.8864941 FALSE 4.06484e-06 ENSE00002374025_020 ENSE00002374025 020 5 151054125 151054294 - 48 63 59 T G 151054239 2022 56 TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCACCAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT 151674563 151674733 151674677 151674678 151674678 upstr_intron -4 -0.05084746 TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCACCAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT TGGAGGTGAAGCTGGCCTTATTCCTGACCCCTCTGAACGCTACTTTCTCTTTCCAACAGCAGCAAGAAGCCCTGCCTGATGAGACAGAGGTGGTGGAAGAAACTGTGGCAGAGGTGACTGAGGTATGTGGGCAGTGACCGCAGCCCCTTAGCCCCTCTCTACCTGTATCT mutant NA NA NA NA NA 72 40 1 0.9960254 0.9980127 0.9963803 0.9757783 0.8856726 0.9698274 NA NA 0.1143274 0.02619807 0.9860793 0.92775 NA 0.07026274 NA FALSE NA 0.001 -0.85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151674678 SPARC HGNC Symbol protein_coding 26069 ENSG00000113140 ENSE00003477486 splice_region_variant 1.057333 0.28244 0.07454 0.062308 0.8258597 0.411861 0.8864941 FALSE 8.13398e-05 ENSE00002374309_000 ENSE00002374309 000 3 132047069 132047238 + 42 96 32 NA NA NA NA NA CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 NA NA NA NA NA NA CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT natural 35 77 0.9995104 0.9970327 0.9982715 3782 4346 0.8803925 0.9414588 0.9109257 0.9995104 0.9970327 0.8803925 0.9414588 0 0 0 0 0.9982715 0.9109257 0 0 0 FALSE FALSE NA NA NA NA NA ACPP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACPP NA NA NA ENSG00000014257 ENSE00003627877 NA NA NA NA NA NA NA 1.757498e-07 FALSE NA ENSE00002374309_001 ENSE00002374309 001 3 132047069 132047238 + 42 96 32 C T 132047085 3046 17 CAAGTGACGTTTGTAATATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328240 132328241 132328241 upstr_intron -26 -0.5952381 CAAGTGACGTTTGTAATATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 1620 876 0.9987387 0.999458 0.9990984 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1183462 0.05799917 0.9982715 0.9109257 NA 0.08817269 NA FALSE NA 0 -1.34 . intron_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 1/4 1 NA ACA C,T 8.236e-06 3:132328241 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 intron_variant 0.299149 0.16366 0.01287 0.080785 0.5913981 0.0448725 1.757498e-07 FALSE 4.12698e-06 ENSE00002374309_003 ENSE00002374309 003 3 132047069 132047238 + 42 96 32 C G 132047092 3048 24 CAAGTGACGTTTGTAACATCACTGTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328247 132328248 132328248 upstr_intron -19 -0.4285714 CAAGTGACGTTTGTAACATCACTGTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 446 771 0.9947123 0.9945776 0.9946449 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1143198 0.05311875 0.9982715 0.9109257 NA 0.08371927 NA FALSE NA 0 -0.713 . intron_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 1/4 1 NA TCT C,G 4.942e-05 3:132328248 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 intron_variant 0.171831 0.09765 0.00189 0.080785 0.5684769 0.128316 1.757498e-07 FALSE 2.4509e-05 ENSE00002374309_004 ENSE00002374309 004 3 132047069 132047238 + 42 96 32 T C 132047100 3049 32 CAAGTGACGTTTGTAACATCACTCTCTCACACCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328255 132328256 132328256 upstr_intron -11 -0.2380952 CAAGTGACGTTTGTAACATCACTCTCTCACACCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 771 1140 0.9300455 0.8578957 0.8939706 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.04965303 -0.08356311 0.9982715 0.9109257 NA -0.01695504 NA FALSE NA 0.023 2.408 . intron_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 1/4 1 NA ATC T,C 8.236e-06 3:132328256 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 intron_variant 0.962665 0.22903 0.16455 0.080785 0.7530102 0.243097 1.757498e-07 FALSE 1.62904e-05 ENSE00002374309_006 ENSE00002374309 006 3 132047069 132047238 + 42 96 32 C T 132047117 3051 49 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTTGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328272 132328273 132328273 exon 7 0.07291667 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTTGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 253 453 0.9881123 0.97549 0.9818011 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1077198 0.03403114 0.9982715 0.9109257 NA 0.07087548 NA FALSE NA 1 3.459 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 COSM445597&COSM445596 1 NA TCG C,T 8.236e-06 3:132328273 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 7.451481 0.98389 0.88709 0.615465 0.9992389 0 1.757498e-07 FALSE 2.8478e-05 ENSE00002374309_007 ENSE00002374309 007 3 132047069 132047238 + 42 96 32 G A 132047118 3052 50 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCAGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328273 132328274 132328274 exon 8 0.08333333 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCAGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 193 209 0.9894633 0.9905764 0.9900199 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1090708 0.04911757 0.9982715 0.9109257 NA 0.0790942 NA FALSE NA 1 5.675 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA CGG G,A 8.236e-06 3:132328274 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 7.3734 0.99053 0.95956 0.615465 0.9994844 0 1.757498e-07 FALSE 1.22024e-05 ENSE00002374309_009 ENSE00002374309 009 3 132047069 132047238 + 42 96 32 G T 132047133 3054 65 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAATTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328288 132328289 132328289 exon 23 0.2395833 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAATTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 925 1197 0.9032846 0.9981995 0.950742 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.02289209 0.05674063 0.9982715 0.9109257 NA 0.03981636 NA FALSE NA 1 3.85 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA AGT G,T 8.236e-06 3:132328289 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 6.662282 0.99084 0.93 0.615465 0.9968902 0 1.757498e-07 FALSE 4.06491e-06 ENSE00002374309_010 ENSE00002374309 010 3 132047069 132047238 + 42 96 32 C T 132047135 3055 67 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTTCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328290 132328291 132328291 exon 25 0.2604167 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTTCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 200 892 0.97056 0.9990558 0.9848079 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.09016747 0.057597 0.9982715 0.9109257 NA 0.07388224 NA FALSE NA 1 5.955 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA TCC C,T 1.647e-05 3:132328291 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 6.432348 0.99027 0.9686 0.615465 0.9991791 0 1.757498e-07 FALSE 2.84525e-05 ENSE00002374309_012 ENSE00002374309 012 3 132047069 132047238 + 42 96 32 T C 132047139 3057 71 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCACTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328294 132328295 132328295 exon 29 0.3020833 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCACTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 1075 206 1 0.9990455 0.9995227 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1196075 0.05758663 0.9982715 0.9109257 NA 0.08859706 NA FALSE NA 0.004 2.674 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA ATT T,C 8.236e-06 3:132328295 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 3.914008 0.98707 0.90032 0.615465 0.9982929 0 1.757498e-07 FALSE 4.06408e-06 ENSE00002374309_013 ENSE00002374309 013 3 132047069 132047238 + 42 96 32 C T 132047145 3058 77 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACATCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328300 132328301 132328301 exon 35 0.3645833 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACATCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 265 2123 1 0.9970589 0.9985294 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1196075 0.05560008 0.9982715 0.9109257 NA 0.08760378 NA FALSE NA 0.015 1.854 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA ACC C,T 8.236e-06 3:132328301 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 6.309546 0.98354 0.84551 0.554377 0.9991752 0 1.757498e-07 FALSE 1.62545e-05 ENSE00002374309_014 ENSE00002374309 014 3 132047069 132047238 + 42 96 32 C A 132047146 3059 78 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACATTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328301 132328302 132328302 exon 36 0.375 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACATTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 417 422 1 0.9995346 0.9997673 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1196075 0.05807574 0.9982715 0.9109257 NA 0.08884161 NA FALSE NA 0.018 0.271 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA CCT C,A 1.647e-05 3:132328302 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 synonymous_variant 2.586659 0.96418 0.69673 0.554377 0.601835 0 1.757498e-07 FALSE 1.2191e-05 ENSE00002374309_015 ENSE00002374309 015 3 132047069 132047238 + 42 96 32 T C 132047147 3060 79 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCCTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328302 132328303 132328303 exon 37 0.3854167 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCCTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 382 344 0.9848954 0.9990794 0.9919874 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1045029 0.05762057 0.9982715 0.9109257 NA 0.08106174 NA FALSE NA 1 6.121 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA CTT T,C 8.236e-06 3:132328303 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 5.987787 0.98799 0.96661 0.554377 0.9989485 0 1.757498e-07 FALSE 4.06369e-06 ENSE00002374309_018 ENSE00002374309 018 3 132047069 132047238 + 42 96 32 T A 132047171 3063 103 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAAACCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328326 132328327 132328327 exon -36 0.6354167 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAAACCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 105 24 0.1265749 0 0.06328745 0.9995104 0.9970327 0.8803925 0.9414588 NA NA -0.7538176 -0.9414588 0.9982715 0.9109257 NA -0.8476382 NA TRUE NA 0.779 2.248 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA ATC T,A 8.238e-06 3:132328327 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 2.384016 0.92081 0.52606 0.516011 0.9691193 0 1.757498e-07 FALSE 4.06339e-06 ENSE00002374309_019 ENSE00002374309 019 3 132047069 132047238 + 42 96 32 T C 132047177 3064 109 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCACGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328332 132328333 132328333 exon -30 0.6979167 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCACGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 604 946 0.9943706 0.9965556 0.9954631 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1139781 0.05509677 0.9982715 0.9109257 NA 0.08453742 NA FALSE NA 0.993 4.449 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA ATG T,C 1.647e-05 3:132328333 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 5.769959 0.98754 0.94138 0.516011 0.9957242 0 1.757498e-07 FALSE 8.12711e-06 ENSE00002374309_020 ENSE00002374309 020 3 132047069 132047238 + 42 96 32 A G 132047184 3065 116 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACGAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328339 132328340 132328340 exon -23 0.7708333 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACGAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 1710 982 0.9922559 0.9998389 0.9960474 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1118633 0.05838009 0.9982715 0.9109257 NA 0.08512172 NA FALSE NA 1 4.989 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA CAA A,G 8.236e-06 3:132328340 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 3.465634 0.98031 0.849 0.615465 0.9936929 0 1.757498e-07 FALSE 4.06385e-06 ENSE00002374309_021 ENSE00002374309 021 3 132047069 132047238 + 42 96 32 G A 132047193 3066 125 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGACCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328348 132328349 132328349 exon -14 0.8645833 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGACCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 680 239 0.999454 0.9980096 0.9987318 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1190615 0.05655078 0.9982715 0.9109257 NA 0.08780616 NA FALSE NA 1 7.402 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 COSM1670573&COSM1670572 1 NA GGC G,A 1.647e-05 3:132328349 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 6.492538 0.99273 0.99334 0.516011 0.9984727 0 1.757498e-07 FALSE 1.21946e-05 ENSE00002374309_022 ENSE00002374309 022 3 132047069 132047238 + 42 96 32 C G 132047194 3067 126 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGGCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328349 132328350 132328350 exon -13 0.875 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGGCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 974 2880 0.9917951 0.8984329 0.945114 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1114026 -0.04302595 0.9982715 0.9109257 NA 0.03418833 NA FALSE NA 0.699 -0.544 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:132328350 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 synonymous_variant 1.50515 0.96574 0.48549 0.516011 0.7144399 0 1.757498e-07 FALSE 8.13147e-05 ENSE00002374309_023 ENSE00002374309 023 3 132047069 132047238 + 42 96 32 C A 132047194 3068 126 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGACAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328349 132328350 132328350 exon -13 0.875 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGACAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 1104 802 0.9979113 0.9990453 0.9984783 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1175188 0.05758645 0.9982715 0.9109257 NA 0.08755263 NA FALSE NA 0.699 -0.544 NA NA NA ACPP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACPP NA NA NA ENSG00000014257 ENSE00003627877 synonymous_variant 2.153735 0.9633 0.31642 0.516011 0.6892403 0 1.757498e-07 FALSE 3.65916e-05 ENSE00002374309_024 ENSE00002374309 024 3 132047069 132047238 + 42 96 32 A G 132047197 3069 129 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAGCTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328352 132328353 132328353 exon -10 0.90625 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAGCTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 1549 477 0.9986543 0.9622323 0.9804433 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1182617 0.02077347 0.9982715 0.9109257 NA 0.0695176 NA FALSE NA 0.998 0.797 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 rs374816958 1 NA G:0 G:0.0001 AAC A,G 8.236e-06 3:132328353 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 synonymous_variant 0.716617 0.95906 0.61129 0.516011 0.4708437 0 1.757498e-07 FALSE 4.06494e-06 ENSE00002374309_025 ENSE00002374309 025 3 132047069 132047238 + 42 96 32 C T 132047202 3070 134 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCATCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328357 132328358 132328358 exon -5 0.9583333 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCATCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 200 397 0.9997941 0.9996014 0.9996977 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1194015 0.0581426 0.9982715 0.9109257 NA 0.08877207 NA FALSE NA 0.994 3.362 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/5 1 NA ACC C,T 8.236e-06 3:132328358 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 missense_variant 5.964598 0.97472 0.96613 0.516011 0.9986533 0 1.757498e-07 FALSE 1.21971e-05 ENSE00002374309_026 ENSE00002374309 026 3 132047069 132047238 + 42 96 32 T C 132047218 3071 150 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACCTTTAGCTAAAGATTGTTGAT 132328224 132328394 132328373 132328374 132328374 downstr_intron 12 1.387097 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACCTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 114 2508 0.9992758 0.9386253 0.9689505 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1188832 -0.002833502 0.9982715 0.9109257 NA 0.05802487 NA FALSE NA 0.558 0.912 . intron_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/4 1 NA CTT T,C 8.237e-06 3:132328374 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 intron_variant 0.477573 0.19604 0.25324 0.053691 0.6598407 0.0721268 1.757498e-07 FALSE 4.07037e-06 ENSE00002374309_027 ENSE00002374309 027 3 132047069 132047238 + 42 96 32 C T 132047224 3072 156 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGTTAAAGATTGTTGAT 132328224 132328394 132328379 132328380 132328380 downstr_intron 18 1.580645 CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGTTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT mutant NA NA NA NA NA 2571 1486 0.9961468 0.9755828 0.9858648 0.9995104 0.9970327 0.8803925 0.9414588 NA NA 0.1157542 0.03412395 0.9982715 0.9109257 NA 0.07493909 NA FALSE NA 0 -0.505 . intron_variant&non_coding_transcript_variant MODIFIER ACPP HGNC 125 ENST00000489084 2/4 1 NA GCT C,T 8.236e-06 3:132328380 ACPP HGNC Symbol protein_coding 50931 ENSG00000014257 ENSE00003627877 intron_variant 0.089136 0.16056 0.02064 0.053691 0.4640946 0.0640786 1.757498e-07 FALSE 4.07329e-06 ENSE00002374309_BRK ENSE00002374309 BRK 3 132047069 132047238 + 42 96 32 A,G; T,T NA NA NA CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCTTGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGCCTGGTTGGACTTTTAGCTAAAGATTGTTGAT 132328224 132328394 NA NA NA NA NA NA CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCTTGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGCCTGGTTGGACTTTTAGCTAAAGATTGTTGAT CAAGTGACGTTTGTAACATCACTCTCTCACATCTACTTTCAGGTGTTTCGGCATGGAGACCGAAGTCCCATTGACACCTTTCCCACTGACCCCATAAAGGAATCCTCATGGCCACAAGGATTTGGCCAACTCACCCAGGTTGGTTGGACTTTTAGCTAAAGATTGTTGAT control 162 263 0 0.009924431 0.004962216 232 42 0.01191899 0.007722259 0.009820622 0.9995104 0.9970327 0.8803925 0.9414588 -0.9995104 -0.9871083 -0.8684735 -0.9337366 0.9982715 0.9109257 -0.9933093 -0.901105 0.09220427 TRUE TRUE NA NA NA NA NA ACPP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACPP NA NA NA ENSG00000014257 ENSE00003627877 NA NA NA NA NA NA NA 1.757498e-07 FALSE NA ENSE00002375058_000 ENSE00002375058 000 6 70964126 70964295 - 53 54 63 NA NA NA NA NA TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 NA NA NA NA NA NA TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT natural 126 168 0.85 0.8368197 0.8434098 11816 7182 0.9063074 0.8870757 0.8966916 0.85 0.8368197 0.9063074 0.8870757 0 0 0 0 0.8434098 0.8966916 0 0 0 FALSE FALSE NA NA NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A1 NA NA NA ENSG00000112280 ENSE00003553256 NA NA NA NA NA NA NA 4.774229e-15 FALSE NA ENSE00002375058_001 ENSE00002375058 001 6 70964126 70964295 - 53 54 63 A G 70964137 1685 159 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACACGTTTTAAAGAT 70254422 70254592 70254433 70254434 70254434 downstr_intron 42 1.807692 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACACGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 1842 253 0.9506905 0.9297329 0.9402117 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.04438304 0.04265717 0.8434098 0.8966916 NA 0.0435201 NA FALSE NA 0 0.085 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/12 1 NA CAT A,G 8.237e-06 6:70254434 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 intron_variant 0.066567 0.2001 0.10564 0.053691 0.7054814 0.0775996 4.774229e-15 FALSE 4.07146e-06 ENSE00002375058_002 ENSE00002375058 002 6 70964126 70964295 - 53 54 63 G A 70964139 1686 157 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATATATGTTTTAAAGAT 70254422 70254592 70254435 70254436 70254436 downstr_intron 40 1.769231 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATATATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 4584 633 0.9474823 0.9338893 0.9406858 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.04117485 0.04681361 0.8434098 0.8966916 NA 0.04399423 NA FALSE NA 0 -0.706 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/12 1 NA TGT G,A 8.237e-06 6:70254436 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 intron_variant 0.011976 0.12056 0.00627 0.053691 0.374384 0.0775996 4.774229e-15 FALSE 4.07057e-06 ENSE00002375058_003 ENSE00002375058 003 6 70964126 70964295 - 53 54 63 T C 70964140 1687 156 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATGCATGTTTTAAAGAT 70254422 70254592 70254436 70254437 70254437 downstr_intron 39 1.75 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATGCATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 887 1722 0.9490313 0.9514455 0.9502384 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.04272389 0.0643698 0.8434098 0.8966916 NA 0.05354684 NA FALSE NA 0 -0.591 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/12 1 NA GTA T,C 8.237e-06 6:70254437 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 intron_variant -0.200482 0.14038 0.04675 0.053691 0.5675044 0.0775996 4.774229e-15 FALSE 4.06981e-06 ENSE00002375058_004 ENSE00002375058 004 6 70964126 70964295 - 53 54 63 T C 70964158 1688 138 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACGTGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254454 70254455 70254455 downstr_intron 21 1.403846 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACGTGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 237 1004 0.9501794 0.8385541 0.8943667 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.04387192 -0.04852166 0.8434098 0.8966916 NA -0.002324869 NA FALSE NA 0.593 0.89 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/12 rs577273169 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 8.236e-06 6:70254455 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 intron_variant 0.199418 0.22029 0.21244 0.053691 0.7438184 0.110522 4.774229e-15 FALSE 1.62532e-05 ENSE00002375058_005 ENSE00002375058 005 6 70964126 70964295 - 53 54 63 T A 70964160 1689 136 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTTCATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254456 70254457 70254457 downstr_intron 19 1.365385 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTTCATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 2942 1486 0.8469371 0.9545959 0.9007665 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.05937035 0.0675202 0.8434098 0.8966916 NA 0.004074924 NA FALSE NA 0.808 0.138 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/12 1 NA GTA T,A 1.647e-05 6:70254457 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 intron_variant 0.246356 0.21632 0.38807 0.053691 0.6985174 0.110522 4.774229e-15 FALSE 8.12651e-06 ENSE00002375058_006 ENSE00002375058 006 6 70964126 70964295 - 53 54 63 A G 70964163 1690 133 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCCTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254459 70254460 70254460 downstr_intron 16 1.307692 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCCTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 515 1663 0.7608386 0.9185749 0.8397068 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.1454688 0.03149918 0.8434098 0.8966916 NA -0.05698482 NA FALSE NA 0.864 2.402 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/12 1 NA AAG A,G 8.236e-06 6:70254460 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 intron_variant 0.364426 0.449 0.55754 0.053691 0.7584956 0.67237 4.774229e-15 FALSE 4.06279e-06 ENSE00002375058_007 ENSE00002375058 007 6 70964126 70964295 - 53 54 63 A G 70964166 1691 130 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGACTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254462 70254463 70254463 downstr_intron 13 1.25 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGACTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 1694 1304 0.9438882 0.9422524 0.9430703 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.0375808 0.05517665 0.8434098 0.8966916 NA 0.04637873 NA FALSE NA 0.001 -0.572 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/12 1 NA AAT A,G 8.236e-06 6:70254463 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 intron_variant 0.572553 0.17073 0.02218 0.053691 0.6530476 0.172522 4.774229e-15 FALSE 4.06345e-06 ENSE00002375058_009 ENSE00002375058 009 6 70964126 70964295 - 53 54 63 C G 70964174 1693 122 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAACTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254470 70254471 70254471 downstr_intron 5 1.096154 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAACTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 171 281 0.002244282 0.007906429 0.005075355 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.9040632 -0.8791693 0.8434098 0.8966916 NA -0.8916162 NA TRUE NA 1 6.025 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW COL9A1 HGNC 2217 ENST00000360859 6/12 rs372818443 1 NA G:0.0002 G:0 ACT C,G 8.236e-06 6:70254471 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 splice_region_variant 2.059103 0.9926 0.98358 0.053691 0.9709313 0.983739 4.774229e-15 FALSE 4.06309e-06 ENSE00002375058_010 ENSE00002375058 010 6 70964126 70964295 - 53 54 63 G A 70964180 1694 116 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACTAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254476 70254477 70254477 exon -2 0.9814815 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACTAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 1918 166 0.9278267 0.9331729 0.9304998 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.02151922 0.04609717 0.8434098 0.8966916 NA 0.03380819 NA FALSE NA 1 5.817 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW COL9A1 HGNC 2217 ENST00000360859 6/13 1 NA TGG G,A 2.471e-05 6:70254477 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 missense_variant 6.627474 0.9927 0.97656 0.706298 0.9970059 0 4.774229e-15 FALSE 4.06289e-05 ENSE00002375058_011 ENSE00002375058 011 6 70964126 70964295 - 53 54 63 T C 70964201 1695 95 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGGTGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254497 70254498 70254498 exon -23 0.5925926 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGGTGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 546 403 0.9621931 0.9454395 0.9538163 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.05588565 0.05836377 0.8434098 0.8966916 NA 0.05712471 NA FALSE NA 1 4.468 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/13 1 NA ATC T,C 1.647e-05 6:70254498 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 missense_variant 4.610305 0.98949 0.96557 0.706298 0.9569598 0 4.774229e-15 FALSE 8.12315e-06 ENSE00002375058_012 ENSE00002375058 012 6 70964126 70964295 - 53 54 63 A C 70964203 1696 93 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGGGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254499 70254500 70254500 exon -25 0.5555556 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGGGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 1743 212 0.9657633 0.9702035 0.9679834 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.05945584 0.08312779 0.8434098 0.8966916 NA 0.07129182 NA FALSE NA 0.833 -0.326 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70254500 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 synonymous_variant -0.598212 0.89723 0.2559 0.706298 0.6742793 0 4.774229e-15 FALSE 4.06164e-06 ENSE00002375058_013 ENSE00002375058 013 6 70964126 70964295 - 53 54 63 A G 70964203 1697 93 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGCGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254499 70254500 70254500 exon -25 0.5555556 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGCGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 223 4673 0.9482009 0.8561804 0.9021906 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.04189349 -0.03089536 0.8434098 0.8966916 NA 0.005499065 NA FALSE NA 0.833 -0.326 NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A1 NA NA NA ENSG00000112280 ENSE00003553256 synonymous_variant 0.25336 0.90739 0.34405 0.706298 0.6794529 0 4.774229e-15 FALSE 2.03082e-05 ENSE00002375058_014 ENSE00002375058 014 6 70964126 70964295 - 53 54 63 C T 70964222 1698 74 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGAAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254518 70254519 70254519 exon 11 0.2037037 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGAAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 677 1329 0.9998784 1 0.9999392 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.09357093 0.1129243 0.8434098 0.8966916 NA 0.1032476 NA FALSE NA 1 6.025 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 6/13 1 NA TCC C,T 8.236e-06 6:70254519 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 missense_variant 6.673892 0.98623 0.97298 0.706298 0.9947205 0 4.774229e-15 FALSE 4.06207e-06 ENSE00002375058_015 ENSE00002375058 015 6 70964126 70964295 - 53 54 63 A T 70964237 1699 59 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTAGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254533 70254534 70254534 upstr_intron -5 -0.06349206 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTAGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 1655 493 0.04960306 0.0006492666 0.02512616 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.8567044 -0.8864265 0.8434098 0.8966916 NA -0.8715654 NA TRUE NA 0.958 3.52 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW COL9A1 HGNC 2217 ENST00000360859 5/12 1 NA CAA A,T 1.647e-05 6:70254534 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 splice_region_variant 0.525482 0.96683 0.9505 0.053691 0.697197 0.199998 4.774229e-15 FALSE 8.12625e-06 ENSE00002375058_016 ENSE00002375058 016 6 70964126 70964295 - 53 54 63 A C 70964242 1700 54 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTGTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254538 70254539 70254539 upstr_intron -10 -0.1428571 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTGTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 1643 1151 0.9422029 0.9171309 0.9296669 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.03589551 0.03005515 0.8434098 0.8966916 NA 0.03297533 NA FALSE NA 0.501 2.098 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 1 NA AAA A,C 8.236e-06 6:70254539 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant 0.1669 0.47768 0.5841 0.053691 0.7163674 0.0823016 4.774229e-15 FALSE 5.6874e-05 ENSE00002375058_017 ENSE00002375058 017 6 70964126 70964295 - 53 54 63 G A 70964244 1701 52 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGTTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254540 70254541 70254541 upstr_intron -12 -0.1746032 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGTTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 458 226 0.9951382 0.9994932 0.9973157 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.08883074 0.1124175 0.8434098 0.8966916 NA 0.1006241 NA FALSE NA 0 -0.062 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 1 NA AGC G,A 8.236e-06 6:70254541 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant -0.125734 0.12622 0.01924 0.053691 0.5476586 0.0833644 4.774229e-15 FALSE 4.87547e-05 ENSE00002375058_018 ENSE00002375058 018 6 70964126 70964295 - 53 54 63 C T 70964245 1702 51 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAACTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254541 70254542 70254542 upstr_intron -13 -0.1904762 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAACTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 2512 1615 0.9952146 0.9987993 0.997007 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.08890721 0.1117235 0.8434098 0.8966916 NA 0.1003154 NA FALSE NA 0 -2.418 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70254542 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant -0.033148 0.06337 0.00118 0.053691 0.4939261 0.0833644 4.774229e-15 FALSE 4.06293e-06 ENSE00002375058_019 ENSE00002375058 019 6 70964126 70964295 - 53 54 63 C G 70964245 1703 51 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAACCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254541 70254542 70254542 upstr_intron -13 -0.1904762 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAACCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 1851 778 0.9979 0.9999511 0.9989255 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.09159255 0.1128753 0.8434098 0.8966916 NA 0.1022339 NA FALSE NA 0 -2.418 NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A1 NA NA NA ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant -0.176801 0.21981 0.02288 0.053691 0.4648232 0.0833644 4.774229e-15 FALSE 4.06293e-06 ENSE00002375058_020 ENSE00002375058 020 6 70964126 70964295 - 53 54 63 T G 70964247 1704 49 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAACAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254543 70254544 70254544 upstr_intron -15 -0.2222222 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAACAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 714 1495 0.8985772 0.868767 0.8836721 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.007730232 -0.01830872 0.8434098 0.8966916 NA -0.01301948 NA FALSE NA 0 0.389 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 1 NA TTT T,G 8.236e-06 6:70254544 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant -0.12404 0.24078 0.04178 0.053691 0.6142268 0.0833644 4.774229e-15 FALSE 4.06319e-06 ENSE00002375058_021 ENSE00002375058 021 6 70964126 70964295 - 53 54 63 A G 70964250 1705 46 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGACAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254546 70254547 70254547 upstr_intron -18 -0.2698413 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGACAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 795 762 0.9558371 0.9502154 0.9530262 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.04952969 0.06313963 0.8434098 0.8966916 NA 0.05633466 NA FALSE NA 0 0.593 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 1 NA TAT A,G 8.236e-06 6:70254547 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant -0.064177 0.23134 0.14994 0.053691 0.6052405 0.0833644 4.774229e-15 FALSE 4.06316e-06 ENSE00002375058_022 ENSE00002375058 022 6 70964126 70964295 - 53 54 63 C A 70964252 1706 44 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTTATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254548 70254549 70254549 upstr_intron -20 -0.3015873 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTTATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 207 196 0.575548 0.5326341 0.554091 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.3307594 -0.3544416 0.8434098 0.8966916 NA -0.3426005 NA FALSE NA 0 0.046 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 1 NA TCA C,A 8.236e-06 6:70254549 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant 0.312766 0.29158 0.22022 0.053691 0.6309297 0.0833644 4.774229e-15 FALSE 4.06379e-06 ENSE00002375058_023 ENSE00002375058 023 6 70964126 70964295 - 53 54 63 C T 70964254 1707 42 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATATGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254550 70254551 70254551 upstr_intron -22 -0.3333333 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATATGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 154 221 0.9503939 0.8698402 0.910117 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.04408649 -0.01723557 0.8434098 0.8966916 NA 0.01342546 NA FALSE NA 0 -0.144 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 rs201265632 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 T:0 T:0.0003 ACA C,T 0.0005848 6:70254551 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant 0.317636 0.20161 0.07296 0.053691 0.7008551 0.0833644 4.774229e-15 FALSE 0.000552711 ENSE00002375058_024 ENSE00002375058 024 6 70964126 70964295 - 53 54 63 T C 70964259 1708 37 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAGTCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254555 70254556 70254556 upstr_intron -27 -0.4126984 TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAGTCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 513 212 0.8866386 0.7933239 0.8399813 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.01966879 -0.09375183 0.8434098 0.8966916 NA -0.05671031 NA FALSE NA 0.001 -1.056 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 1 NA ATT T,C 1.647e-05 6:70254556 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant 0.204861 0.13743 0.00675 0.053691 0.5592896 0.0823016 4.774229e-15 FALSE 8.12836e-06 ENSE00002375058_025 ENSE00002375058 025 6 70964126 70964295 - 53 54 63 C T 70964264 1709 32 TTTCTTAAAAGAAATACAGCAGCTCATACAGATTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254560 70254561 70254561 upstr_intron -32 -0.4920635 TTTCTTAAAAGAAATACAGCAGCTCATACAGATTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 708 1352 0.8196902 0.9653713 0.8925307 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.08661727 0.07829558 0.8434098 0.8966916 NA -0.004160843 NA FALSE NA 0.002 -0.112 rs72923190 intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 rs72923190 1 T:0.0030 T:0.0015 T:0.0029 NA T:0 T:0.007 T:0.0041 T:0.0025 T:0.0124 ACC C,T 0.009011 6:70254561 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant 0.333831 0.19299 0.04894 0.053691 0.7569275 0.0823016 4.774229e-15 FALSE 0.00866772 ENSE00002375058_026 ENSE00002375058 026 6 70964126 70964295 - 53 54 63 T G 70964283 1710 13 TTTCTTAAAAGACATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 70254579 70254580 70254580 upstr_intron -51 -0.7936508 TTTCTTAAAAGACATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT mutant NA NA NA NA NA 4179 1794 0.9497247 0.894328 0.9220263 0.85 0.8368197 0.9063074 0.8870757 NA NA 0.04341723 0.007252261 0.8434098 0.8966916 NA 0.02533474 NA FALSE NA 0 0.208 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 rs371926831 1 NA G:0 G:0.0006 TTT T,G 0.0004365 6:70254580 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003553256 non_coding_transcript_exon_variant -0.063546 0.21702 0.09353 0.053691 0.4583548 0.0823016 4.774229e-15 FALSE 0.000562283 ENSE00002375058_BRK ENSE00002375058 BRK 6 70964126 70964295 - 53 54 63 A,G; T,T NA NA NA TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCTTGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCACCAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT 70254422 70254592 NA NA NA NA NA NA TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCTTGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCACCAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT TTTCTTAAAAGAAATACAGCAGCTCATACAGGTTCAATCATGTGATAAAAGCTTTTTTTGCAGGGTGAACCAGGAAAACCTGGGCCTCCTGGTGATGCAGGATTGCAGGGGTTACCAGTAAGTATTTGATTCTTTACATGTTAATTGGTTTATATACATGTTTTAAAGAT control NA NA NA NA NA 180 1685 0.04360783 0 0.02180391 0.85 0.8368197 0.9063074 0.8870757 NA NA -0.8626996 -0.8870757 0.8434098 0.8966916 NA -0.8748877 NA TRUE NA NA NA NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A1 NA NA NA ENSG00000112280 ENSE00003553256 NA NA NA NA NA NA NA 4.774229e-15 FALSE NA ENSE00002375185_000 ENSE00002375185 000 5 131322452 131322621 - 63 33 74 NA NA NA NA NA TCTGTGAGGACAGGCCCTGCACGCCATCTCGCTCAATAAAGACCTGCAGGTGAATTCGCTTACCACAGGAGCCTGGTGATTCTCTTGGCCACAGTCCTGAAAGAAGAAAATGCTGTTTTTAAATGCTCAAAAGTTCTCTCTCTCTCTCTTTCTGTCCCTCTGTCTCTGTC 131986758 131986928 NA NA NA NA NA NA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA natural 35 22 0.9678025 0.9733596 0.970581 199 381 0.9993779 0.9923538 0.9958658 0.9678025 0.9733596 0.9993779 0.9923538 0 0 0 0 0.970581 0.9958658 0 0 0 FALSE FALSE NA NA NA NA NA ACSL6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACSL6 NA NA NA ENSG00000164398 ENSE00003778534 NA NA NA NA NA NA NA 0.08856227 FALSE NA ENSE00002376154_000 ENSE00002376154 000 12 53294340 53294509 - 32 96 42 NA NA NA NA NA GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 NA NA NA NA NA NA GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC natural NA NA NA NA NA 2688 2804 0.8874351 0.88089 0.8841625 NA NA 0.8874351 0.88089 NA NA 0 0 NA 0.8841625 NA 0 NA FALSE NA NA NA NA NA NA KRT8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KRT8 NA NA NA ENSG00000170421 ENSE00003789984 NA NA NA NA NA NA NA 5.614405e-06 FALSE NA ENSE00002376154_002 ENSE00002376154 002 12 53294340 53294509 - 32 96 42 A G 53294359 1853 151 GGACCCTCACTCTCCTGCGGCCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900574 52900575 52900575 downstr_intron 13 1.419355 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGCCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 277 136 0.8029047 0.7948787 0.7988917 NA NA 0.8874351 0.88089 NA NA -0.08453038 -0.08601128 NA 0.8841625 NA -0.08527083 NA FALSE NA 0 -0.017 . downstream_gene_variant MODIFIER KRT8 HGNC 6446 ENST00000546900 1 NA GAC A,G 9.884e-05 12:52900575 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 intron_variant 0.250203 0.31271 0.11475 0.088506 0.4508678 0.0601167 5.614405e-06 FALSE 8.53131e-05 ENSE00002376154_003 ENSE00002376154 003 12 53294340 53294509 - 32 96 42 A G 53294378 1854 132 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCGTATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900593 52900594 52900594 exon -7 0.9375 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATACGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 129 49 0.942431 0.9373188 0.9398749 NA NA 0.8874351 0.88089 NA NA 0.05499592 0.0564288 NA 0.8841625 NA 0.05571236 NA FALSE NA 0.99 0.373 . synonymous_variant LOW KRT8 HGNC 6446 ENST00000546900 4/4 1 NA CAT A,G 8.236e-06 12:52900594 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 synonymous_variant -0.46761 0.94595 0.79519 0.67177 0.4666056 0 5.614405e-06 FALSE 8.12394e-06 ENSE00002376154_005 ENSE00002376154 005 12 53294340 53294509 - 32 96 42 T G 53294389 1856 121 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCGGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900604 52900605 52900605 exon -18 0.8229167 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCCGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 75 37 1 0.95 0.975 NA NA 0.8874351 0.88089 NA NA 0.1125649 0.06911001 NA 0.8841625 NA 0.09083747 NA FALSE NA 0.998 0.917 . synonymous_variant LOW KRT8 HGNC 6446 ENST00000546900 4/4 1 NA CTG T,G 0.0001235 12:52900605 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 synonymous_variant 0.468144 0.91351 0.82693 0.67177 0.6362415 0 5.614405e-06 FALSE 0.000121872 ENSE00002376154_006 ENSE00002376154 006 12 53294340 53294509 - 32 96 42 G A 53294390 1857 120 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTAAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900605 52900606 52900606 exon -19 0.8125 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTTAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant 29 28 0 0 0 545 49 0.07450818 0 0.03725409 NA NA 0.8874351 0.88089 NA NA -0.8129269 -0.88089 NA 0.8841625 NA -0.8469084 NA TRUE NA 0.997 0.654 . synonymous_variant LOW KRT8 HGNC 6446 ENST00000546900 4/4 1 NA TGA G,A 4.118e-05 12:52900606 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 synonymous_variant 0.748943 0.92384 0.83141 0.67177 0.6853533 0 5.614405e-06 FALSE 2.03112e-05 ENSE00002376154_007 ENSE00002376154 007 12 53294340 53294509 - 32 96 42 G A 53294393 1858 117 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGAAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900608 52900609 52900609 exon -22 0.78125 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTTCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant 63 47 0 0 0 234 58 0.7909415 0.8 0.7954707 NA NA 0.8874351 0.88089 NA NA -0.09649359 -0.08088999 NA 0.8841625 NA -0.08869179 NA FALSE NA 1 5.65 . synonymous_variant LOW KRT8 HGNC 6446 ENST00000546900 4/4 1 NA GGA G,A 8.236e-06 12:52900609 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 synonymous_variant 0.820869 0.96945 0.96536 0.67177 0.6831281 0 5.614405e-06 FALSE 8.12433e-06 ENSE00002376154_008 ENSE00002376154 008 12 53294340 53294509 - 32 96 42 G T 53294399 1859 111 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTTATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900614 52900615 52900615 exon -28 0.71875 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATAAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 1298 105 0.01172077 0.004835803 0.008278285 NA NA 0.8874351 0.88089 NA NA -0.8757143 -0.8760542 NA 0.8841625 NA -0.8758842 NA TRUE NA 0.998 0.242 . synonymous_variant LOW KRT8 HGNC 6446 ENST00000546900 4/4 1 NA TGA G,T 8.236e-06 12:52900615 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 synonymous_variant 0.663593 0.94456 0.85189 0.67177 0.7253737 0 5.614405e-06 FALSE 4.06263e-06 ENSE00002376154_010 ENSE00002376154 010 12 53294340 53294509 - 32 96 42 G A 53294405 1861 105 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCATCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900620 52900621 52900621 exon -34 0.65625 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGATGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant 1450 474 0.004536659 0 0.002268329 NA NA NA NA NA NA NA 0.8874351 0.88089 NA NA NA NA NA 0.8841625 NA NA NA NA NA 0 -2.523 . synonymous_variant LOW KRT8 HGNC 6446 ENST00000546900 4/4 COSM3398836 1 NA CGT G,A 1.647e-05 12:52900621 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 synonymous_variant 0.167567 0.74042 0.06391 0.67177 0.4147334 0 5.614405e-06 FALSE 2.43807e-05 ENSE00002376154_011 ENSE00002376154 011 12 53294340 53294509 - 32 96 42 G A 53294408 1862 102 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCAGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900623 52900624 52900624 exon -37 0.625 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACTGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant 90 114 0 0 0 NA NA NA NA NA NA NA 0.8874351 0.88089 NA NA NA NA NA 0.8841625 NA NA NA NA NA 0 -7.47 rs150187239 synonymous_variant LOW KRT8 HGNC 6446 ENST00000546900 4/4 rs150187239&COSM3462544 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0.0014 A:0.0005 CGG G,A 0.0002471 12:52900624 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 synonymous_variant 0.718579 0.18329 0.02259 0.67177 0.4928963 0 5.614405e-06 FALSE 0.000231662 ENSE00002376154_012 ENSE00002376154 012 12 53294340 53294509 - 32 96 42 G A 53294425 1863 85 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCAAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900640 52900641 52900641 exon 43 0.4479167 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTTGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant 532 104 0 0 0 181 430 0.8 0.8277311 0.8138656 NA NA 0.8874351 0.88089 NA NA -0.08743507 -0.05315887 NA 0.8841625 NA -0.07029697 NA FALSE NA 0.038 1.722 . missense_variant MODERATE KRT8 HGNC 6446 ENST00000546900 4/4 1 tolerated(0.18) benign(0.077) NA CGA G,A 1.647e-05 12:52900641 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 missense_variant 3.912384 0.95618 0.6548 0.67177 0.9938605 0 5.614405e-06 FALSE 8.13584e-06 ENSE00002376154_013 ENSE00002376154 013 12 53294340 53294509 - 32 96 42 T C 53294449 1864 61 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCACGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900664 52900665 52900665 exon 19 0.1979167 GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACGTGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 656 684 0.9742928 0.9825391 0.9784159 NA NA 0.8874351 0.88089 NA NA 0.08685769 0.1016491 NA 0.8841625 NA 0.09425339 NA FALSE NA 1 3.383 . missense_variant MODERATE KRT8 HGNC 6446 ENST00000546900 4/4 1 deleterious(0) possibly_damaging(0.497) NA ATG T,C 8.237e-06 12:52900665 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 missense_variant 3.238303 0.96318 0.93251 0.67177 0.9890862 0 5.614405e-06 FALSE 4.0777e-06 ENSE00002376154_017 ENSE00002376154 017 12 53294340 53294509 - 32 96 42 G C 53294482 1868 28 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGACAGGGGAGCCTGAGCTGGGTTTCCACAC 52900555 52900725 52900697 52900698 52900698 upstr_intron -15 -0.3333333 GTGTGGAAACCCAGCTCAGGCTCCCCTGTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 1304 158 0.6535736 0.7630437 0.7083086 NA NA 0.8874351 0.88089 NA NA -0.2338615 -0.1178463 NA 0.8841625 NA -0.1758539 NA FALSE NA 0 -1.292 . intron_variant MODIFIER KRT8 HGNC 6446 ENST00000546900 3/3 rs570641302 1 C:0.0012 C:0 C:0 NA C:0.006 C:0 C:0 AGA G,C 0.0002142 12:52900698 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 non_coding_transcript_exon_variant -0.432865 0.34209 0.18108 0.088506 0.3490311 0.0502563 5.614405e-06 FALSE 0.000210306 ENSE00002376154_019 ENSE00002376154 019 12 53294340 53294509 - 32 96 42 G C 53294493 1870 17 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTCAGCTGGGTTTCCACAC 52900555 52900725 52900708 52900709 52900709 upstr_intron -26 -0.5952381 GTGTGGAAACCCAGCTGAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 246 250 0.9861759 0.9488698 0.9675228 NA NA 0.8874351 0.88089 NA NA 0.09874079 0.0679798 NA 0.8841625 NA 0.08336029 NA FALSE NA 0.933 2.233 . intron_variant MODIFIER KRT8 HGNC 6446 ENST00000546900 3/3 1 NA TGA G,C 8.238e-06 12:52900709 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 non_coding_transcript_exon_variant 0.330401 0.33165 0.7179 0.088506 0.7051776 0.0502563 5.614405e-06 FALSE 4.15714e-06 ENSE00002376154_020 ENSE00002376154 020 12 53294340 53294509 - 32 96 42 G A 53294495 1871 15 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAACTGGGTTTCCACAC 52900555 52900725 52900710 52900711 52900711 upstr_intron -28 -0.6428571 GTGTGGAAACCCAGTTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 401 367 0.8349634 0.8680603 0.8515119 NA NA 0.8874351 0.88089 NA NA -0.05247163 -0.01282968 NA 0.8841625 NA -0.03265066 NA FALSE NA 0.983 3.499 . intron_variant MODIFIER KRT8 HGNC 6446 ENST00000546900 3/3 1 NA AGC G,A 1.648e-05 12:52900711 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 non_coding_transcript_exon_variant 0.911803 0.44106 0.68115 0.088506 0.7204711 0.900153 5.614405e-06 FALSE 1.24895e-05 ENSE00002376154_021 ENSE00002376154 021 12 53294340 53294509 - 32 96 42 C G 53294496 1872 14 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGGTGGGTTTCCACAC 52900555 52900725 52900711 52900712 52900712 upstr_intron -29 -0.6666667 GTGTGGAAACCCACCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 328 166 0.9559825 0.917321 0.9366517 NA NA 0.8874351 0.88089 NA NA 0.06854744 0.03643096 NA 0.8841625 NA 0.0524892 NA FALSE NA 0.041 0.168 . intron_variant MODIFIER KRT8 HGNC 6446 ENST00000546900 3/3 rs563532148 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GCT C,G 8.239e-06 12:52900712 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 non_coding_transcript_exon_variant 0.563993 0.26162 0.24256 0.088506 0.6981395 0.0502563 5.614405e-06 FALSE 8.33174e-06 ENSE00002376154_023 ENSE00002376154 023 12 53294340 53294509 - 32 96 42 G C 53294499 1874 11 GGACCCTCACTCTCCTGCGACCAGGAACATACCTCTTCATATAGCTGCCTGAGGAAGTTGATCTCGTCGGTCAGCCCTTCCAGGCGAGACTCCAGCTCTACCTTGTTCATGTAAGCTTCATCCACATCCTGGGGGATGAGGAGAGGGGAGCCTGAGCTGCGTTTCCACAC 52900555 52900725 52900714 52900715 52900715 upstr_intron -32 -0.7380952 GTGTGGAAACGCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC GTGTGGAAACCCAGCTCAGGCTCCCCTCTCCTCATCCCCCAGGATGTGGATGAAGCTTACATGAACAAGGTAGAGCTGGAGTCTCGCCTGGAAGGGCTGACCGACGAGATCAACTTCCTCAGGCAGCTATATGAAGAGGTATGTTCCTGGTCGCAGGAGAGTGAGGGTCC mutant NA NA NA NA NA 23 100 0.8874088 0.9206081 0.9040085 NA NA 0.8874351 0.88089 NA NA -2.621989e-05 0.03971808 NA 0.8841625 NA 0.01984593 NA FALSE NA 0 0.098 . intron_variant MODIFIER KRT8 HGNC 6446 ENST00000546900 3/3 1 NA GGG G,C 8.239e-06 12:52900715 KRT8 HGNC Symbol protein_coding 52767 ENSG00000170421 ENSE00003789984 non_coding_transcript_exon_variant 0.226627 0.24904 0.10068 0.088506 0.6339529 0.0502563 5.614405e-06 FALSE 4.17439e-06 ENSE00002376214_000 ENSE00002376214 000 5 179554567 179554736 - 42 75 53 NA NA NA NA NA CACCCCCTCCCCATACCTTCCCTCTTTTACCCACTCTTCACCCTTCCCTGCAGGAGCGGCTGCGGCACATCGGGCCTGAGGAGTTTGTCCAGGCCTTTGTGAACAAGGACCCTCTGGCCAGCACAAAGGTAGGAGGCTCTTACGGGCTGTCCCAAAAGTGAGCCTCACCC 180127566 180127736 NA NA NA NA NA NA CACCCCCTCCCCATACCTTCCCTCTTTTACCCACTCTTCACCCTTCCCTGCAGGAGCGGCTGCGGCACATCGGGCCTGAGGAGTTTGTCCAGGCCTTTGTGAACAAGGACCCTCTGGCCAGCACAAAGGTAGGAGGCTCTTACGGGCTGTCCCAAAAGTGAGCCTCACCC CACCCCCTCCCCATACCTTCCCTCTTTTACCCACTCTTCACCCTTCCCTGCAGGAGCGGCTGCGGCACATCGGGCCTGAGGAGTTTGTCCAGGCCTTTGTGAACAAGGACCCTCTGGCCAGCACAAAGGTAGGAGGCTCTTACGGGCTGTCCCAAAAGTGAGCCTCACCC natural NA NA NA NA NA 310 88 0.9973143 0.8539682 0.9256412 NA NA 0.9973143 0.8539682 NA NA 0 0 NA 0.9256412 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003690129 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00002376214_BRK ENSE00002376214 BRK 5 179554567 179554736 - 42 75 53 A,G; T,T NA NA NA CACCCCCTCCCCATACCTTCCCTCTTTTACCCACTCTTCACCCTTCCCTGCTTGAGCGGCTGCGGCACATCGGGCCTGAGGAGTTTGTCCAGGCCTTTGTGAACAAGGACCCTCTGGCCAGCACAAAGCCAGGAGGCTCTTACGGGCTGTCCCAAAAGTGAGCCTCACCC 180127566 180127736 NA NA NA NA NA NA CACCCCCTCCCCATACCTTCCCTCTTTTACCCACTCTTCACCCTTCCCTGCTTGAGCGGCTGCGGCACATCGGGCCTGAGGAGTTTGTCCAGGCCTTTGTGAACAAGGACCCTCTGGCCAGCACAAAGCCAGGAGGCTCTTACGGGCTGTCCCAAAAGTGAGCCTCACCC CACCCCCTCCCCATACCTTCCCTCTTTTACCCACTCTTCACCCTTCCCTGCAGGAGCGGCTGCGGCACATCGGGCCTGAGGAGTTTGTCCAGGCCTTTGTGAACAAGGACCCTCTGGCCAGCACAAAGGTAGGAGGCTCTTACGGGCTGTCCCAAAAGTGAGCCTCACCC control 23 33 0 0 0 NA NA NA NA NA NA NA 0.9973143 0.8539682 NA NA NA NA NA 0.9256412 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003690129 NA NA NA NA NA NA NA NA NA NA ENSE00002376439_000 ENSE00002376439 000 5 140967725 140967894 - 66 27 77 NA NA NA NA NA CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 NA NA NA NA NA NA CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT natural 60 43 0.9887181 0.994236 0.991477 4631 3582 0.9519299 0.8837606 0.9178452 0.9887181 0.994236 0.9519299 0.8837606 0 0 0 0 0.991477 0.9178452 0 0 0 FALSE FALSE NA NA NA NA NA DIAPH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIAPH1 NA NA NA ENSG00000131504 ENSE00003723728 NA NA NA NA NA NA NA 0.2671097 FALSE NA ENSE00002376439_001 ENSE00002376439 001 5 140967725 140967894 - 66 27 77 T C 140967743 1387 152 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACGCTATCATATTTACCAGTT 141588157 141588327 141588175 141588176 141588176 downstr_intron 48 1.738462 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACGCTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 640 244 0.9367333 0.9786736 0.9577035 0.9887181 0.994236 0.9519299 0.8837606 NA NA -0.01519657 0.09491301 0.991477 0.9178452 NA 0.03985822 NA FALSE NA 0.009 -0.415 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 2/27 1 NA GTG T,C 8.271e-06 5:141588176 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 0.677995 0.16316 0.06814 0.099367 0.7355397 0.121998 0.2671097 FALSE 4.09396e-06 ENSE00002376439_002 ENSE00002376439 002 5 140967725 140967894 - 66 27 77 A G 140967751 1388 144 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCACTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588183 141588184 141588184 downstr_intron 40 1.615385 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCACTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 1080 190 0.9995036 0.9803578 0.9899307 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.04757368 0.09659725 0.991477 0.9178452 NA 0.07208547 NA FALSE NA 0.995 0.478 rs78541912 intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 2/27 rs78541912 1 G:0.0026 G:0.0098 G:0 NA G:0 G:0 G:0 G:0.0096 G:0 AAT A,G 0.0008106 5:141588184 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 0.713728 0.25018 0.0307 0.099367 0.6746489 0.121998 0.2671097 FALSE 0.000644819 ENSE00002376439_004 ENSE00002376439 004 5 140967725 140967894 - 66 27 77 G A 140967765 1390 130 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGTATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588197 141588198 141588198 downstr_intron 26 1.4 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGTATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 126 254 0.9850736 0.9922395 0.9886565 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.03314368 0.108479 0.991477 0.9178452 NA 0.07081131 NA FALSE NA 1 1.849 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 2/27 1 NA TGC G,A 8.273e-06 5:141588198 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 3.273964 0.97065 0.92838 0.156188 0.779262 0.885268 0.2671097 FALSE 4.07319e-06 ENSE00002376439_005 ENSE00002376439 005 5 140967725 140967894 - 66 27 77 C T 140967772 1391 123 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAACATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588204 141588205 141588205 downstr_intron 19 1.292308 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAACATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 83 205 0.9959646 1 0.9979823 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.0440347 0.1162394 0.991477 0.9178452 NA 0.08013707 NA FALSE NA 0.72 1.985 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 2/27 rs570074502 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCT C,T 2.482e-05 5:141588205 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 3.175093 0.96059 0.8374 0.156188 0.8421858 0.464256 0.2671097 FALSE 1.62836e-05 ENSE00002376439_006 ENSE00002376439 006 5 140967725 140967894 - 66 27 77 C A 140967777 1392 118 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTTTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588209 141588210 141588210 downstr_intron 14 1.215385 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTTTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 24 579 0.9446034 0.9994062 0.9720048 0.9887181 0.994236 0.9519299 0.8837606 NA NA -0.007326539 0.1156457 0.991477 0.9178452 NA 0.05415957 NA FALSE NA 0.924 0.008 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 2/27 1 NA ACA C,A 8.273e-06 5:141588210 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 3.192789 0.95655 0.80445 0.099367 0.8065214 0.463449 0.2671097 FALSE 4.06951e-06 ENSE00002376439_007 ENSE00002376439 007 5 140967725 140967894 - 66 27 77 A T 140967779 1393 116 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTATGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588211 141588212 141588212 downstr_intron 12 1.184615 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTATGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 230 1282 1 0.9953293 0.9976647 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.0480701 0.1115688 0.991477 0.9178452 NA 0.07981944 NA FALSE NA 0.997 1.631 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 2/27 1 NA AAA A,T 8.273e-06 5:141588212 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 2.869258 0.96064 0.94096 0.099367 0.8964908 0.460355 0.2671097 FALSE 4.06908e-06 ENSE00002376439_008 ENSE00002376439 008 5 140967725 140967894 - 66 27 77 G A 140967783 1394 112 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGATATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588215 141588216 141588216 downstr_intron 8 1.123077 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGATATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 273 1617 1 0.9992637 0.9996319 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.0480701 0.1155031 0.991477 0.9178452 NA 0.08178662 NA FALSE NA 0.207 -0.74 . splice_region_variant&intron_variant LOW DIAPH1 HGNC 2876 ENST00000253811 2/27 1 NA TGT G,A 6.619e-05 5:141588216 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 splice_region_variant 0.821975 0.0609 0.02038 0.099367 0.8169095 0.264476 0.2671097 FALSE 4.88285e-05 ENSE00002376439_011 ENSE00002376439 011 5 140967725 140967894 - 66 27 77 G A 140967839 1397 56 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCTCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588271 141588272 141588272 upstr_intron -22 -0.2727273 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCTCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 256 282 0.9920458 1 0.9960229 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.04011592 0.1162394 0.991477 0.9178452 NA 0.07817768 NA FALSE NA 1 2.248 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 1/27 rs370718333 1 NA A:0 A:0.0004 GGG G,A 0.0002069 5:141588272 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 2.081496 0.96228 0.9003 0.099367 0.8044273 0.468397 0.2671097 FALSE 0.000130794 ENSE00002376439_012 ENSE00002376439 012 5 140967725 140967894 - 66 27 77 G A 140967840 1398 55 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTTCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588272 141588273 141588273 upstr_intron -23 -0.2857143 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTTCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 722 382 0.9927035 0.9886595 0.9906815 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.04077359 0.104899 0.991477 0.9178452 NA 0.07283628 NA FALSE NA 0.995 0.036 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 1/27 rs201572988 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGA G,A 9.101e-05 5:141588273 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 2.054929 0.96278 0.80054 0.099367 0.7607963 0.391722 0.2671097 FALSE 5.72283e-05 ENSE00002376439_013 ENSE00002376439 013 5 140967725 140967894 - 66 27 77 A G 140967851 1399 44 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCCTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588283 141588284 141588284 upstr_intron -34 -0.4285714 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCCTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 775 784 0.998396 0.9931976 0.9957968 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.04646609 0.1094371 0.991477 0.9178452 NA 0.07795158 NA FALSE NA 0.946 -0.009 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 1/27 1 NA AAG A,G 8.274e-06 5:141588284 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 2.739281 0.89522 0.71907 0.099367 0.9065416 0.464094 0.2671097 FALSE 8.21362e-06 ENSE00002376439_014 ENSE00002376439 014 5 140967725 140967894 - 66 27 77 A G 140967857 1400 38 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGACTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588289 141588290 141588290 upstr_intron -40 -0.5064935 CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGACTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 141 824 0.9275879 0.9982669 0.9629274 0.9887181 0.994236 0.9519299 0.8837606 NA NA -0.02434196 0.1145064 0.991477 0.9178452 NA 0.04508221 NA FALSE NA 0.958 1.32 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 1/27 1 NA AAT A,G 8.273e-06 5:141588290 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 3.007975 0.98457 0.88708 0.099367 0.849418 0.956473 0.2671097 FALSE 4.12133e-06 ENSE00002376439_015 ENSE00002376439 015 5 140967725 140967894 - 66 27 77 G A 140967866 1401 29 CGTCTGGTGTTTGGGAGGTTTCCTTGTATTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588298 141588299 141588299 upstr_intron -49 -0.6233766 CGTCTGGTGTTTGGGAGGTTTCCTTGTATTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 600 15 0.9986402 0.8761632 0.9374017 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.04671034 -0.00759737 0.991477 0.9178452 NA 0.01955649 NA FALSE NA 0.979 0.15 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 1/27 1 NA AGT G,A 8.273e-06 5:141588299 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 1.878075 0.90721 0.01516 0.099367 0.7409939 0.586041 0.2671097 FALSE NA ENSE00002376439_016 ENSE00002376439 016 5 140967725 140967894 - 66 27 77 C T 140967869 1402 26 CGTCTGGTGTTTGGGAGGTTTCCTTATACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 141588301 141588302 141588302 upstr_intron -52 -0.6623377 CGTCTGGTGTTTGGGAGGTTTCCTTATACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT mutant NA NA NA NA NA 667 495 0.9989464 0.9928843 0.9959153 0.9887181 0.994236 0.9519299 0.8837606 NA NA 0.04701647 0.1091237 0.991477 0.9178452 NA 0.07807008 NA FALSE NA 0.001 -0.273 . intron_variant MODIFIER DIAPH1 HGNC 2876 ENST00000253811 1/27 1 NA ACA C,T 8.273e-06 5:141588302 DIAPH1 HGNC Symbol protein_coding 104039 ENSG00000131504 ENSE00003723728 intron_variant 1.212044 0.1668 0.07036 0.099367 0.6580518 0.452717 0.2671097 FALSE 8.35589e-06 ENSE00002376439_BRK ENSE00002376439 BRK 5 140967725 140967894 - 66 27 77 A,G; T,T NA NA NA CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTTTACTCTGAAGCGGCTCATGGCAGATGAGCCAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT 141588157 141588327 NA NA NA NA NA NA CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTTTACTCTGAAGCGGCTCATGGCAGATGAGCCAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT CGTCTGGTGTTTGGGAGGTTTCCTTGTACTTCACTGATTTCTCTTCTTTCTTCTCCCTCCTTTTTCCTGTTTCCTAGACTCTGAAGCGGCTCATGGCAGATGAGGTAAGGACATTTTGTTTAGCATGTGCATGTTCTAGCTCATTGCCTACACTATCATATTTACCAGTT control NA NA NA NA NA 367 1874 0 0.05031588 0.02515794 0.9887181 0.994236 0.9519299 0.8837606 NA NA -0.9519299 -0.8334447 0.991477 0.9178452 NA -0.8926873 NA TRUE NA NA NA NA NA NA DIAPH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIAPH1 NA NA NA ENSG00000131504 ENSE00003723728 NA NA NA NA NA NA NA 0.2671097 FALSE NA ENSE00002376529_000 ENSE00002376529 000 3 57301705 57301874 + 65 51 54 NA NA NA NA NA GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 NA NA NA NA NA NA GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC natural 11 33 1 0.9821084 0.9910542 2510 2745 0.8464346 0.8831698 0.8648022 1 0.9821084 0.8464346 0.8831698 0 0 0 0 0.9910542 0.8648022 0 0 0 FALSE FALSE NA NA NA NA NA ASB14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APPL1 NA NA NA ENSG00000157500 ENSE00003594957 NA NA NA NA NA NA NA 0.184161 FALSE NA ENSE00002376529_003 ENSE00002376529 003 3 57301705 57301874 + 65 51 54 A T 57301751 1840 47 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCTTACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 57267722 57267723 57267723 upstr_intron -19 -0.2769231 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCTTACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 36 40 0.9581927 1 0.9790963 1 0.9821084 0.8464346 0.8831698 NA NA 0.1117581 0.1168302 0.9910542 0.8648022 NA 0.1142942 NA FALSE NA 0 -1.509 . downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 1 NA CAT A,T 8.237e-06 3:57267723 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 intron_variant 0.297685 0.16664 0.01157 0.295142 0.6567179 0.0666469 0.184161 FALSE 4.0711e-06 ENSE00002376529_004 ENSE00002376529 004 3 57301705 57301874 + 65 51 54 T C 57301752 1841 48 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCACACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 57267723 57267724 57267724 upstr_intron -18 -0.2615385 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCACACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 764 10 0.9995683 1 0.9997841 1 0.9821084 0.8464346 0.8831698 NA NA 0.1531337 0.1168302 0.9910542 0.8648022 NA 0.1349819 NA FALSE NA 0.001 -0.022 . downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 1 NA ATA T,C 8.237e-06 3:57267724 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 intron_variant 0.976705 0.25452 0.16441 0.295142 0.8166107 0.543907 0.184161 FALSE 4.0703e-06 ENSE00002376529_005 ENSE00002376529 005 3 57301705 57301874 + 65 51 54 C T 57301754 1842 50 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATATTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 57267725 57267726 57267726 upstr_intron -16 -0.2307692 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATATTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 236 61 1 1 1 1 0.9821084 0.8464346 0.8831698 NA NA 0.1535654 0.1168302 0.9910542 0.8648022 NA 0.1351978 NA FALSE NA 0 0.078 . downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 1 NA ACT C,T 3.295e-05 3:57267726 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 intron_variant 1.190474 0.35165 0.02316 0.295142 0.6408606 0.0666469 0.184161 FALSE 2.85e-05 ENSE00002376529_009 ENSE00002376529 009 3 57301705 57301874 + 65 51 54 T C 57301801 1846 97 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGACAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 57267772 57267773 57267773 exon -20 0.627451 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGACAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 707 134 0.9323335 0.9844567 0.9583951 1 0.9821084 0.8464346 0.8831698 NA NA 0.08589884 0.101287 0.9910542 0.8648022 NA 0.09359291 NA FALSE NA 1 6.736 . downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 1 NA ATA T,C 1.647e-05 3:57267773 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 missense_variant 5.119075 0.99253 0.99532 0.706298 0.997523 0 0.184161 FALSE 8.13835e-06 ENSE00002376529_014 ENSE00002376529 014 3 57301705 57301874 + 65 51 54 G C 57301815 1851 111 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTCAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 57267786 57267787 57267787 exon -6 0.9019608 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTCAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 111 305 0.98416 0.9891048 0.9866324 1 0.9821084 0.8464346 0.8831698 NA NA 0.1377254 0.1059351 0.9910542 0.8648022 NA 0.1218302 NA FALSE NA 1 7.549 rs142229340 downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 rs142229340 1 NA C:0 C:0.0007 TGA G,C 0.0004283 3:57267787 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 missense_variant 4.546751 0.98941 0.99392 0.706298 0.9980525 0 0.184161 FALSE 0.000407511 ENSE00002376529_015 ENSE00002376529 015 3 57301705 57301874 + 65 51 54 A G 57301831 1852 127 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCGAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 57267802 57267803 57267803 downstr_intron 11 1.207547 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCGAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 330 120 1 0.9996822 0.9998411 1 0.9821084 0.8464346 0.8831698 NA NA 0.1535654 0.1165125 0.9910542 0.8648022 NA 0.1350389 NA FALSE NA 0.034 -0.055 . downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 rs369555012 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0.0002 G:0.0003 CAA A,G 0.0003048 3:57267803 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 non_coding_transcript_exon_variant 0.967122 0.14798 0.00802 0.099367 0.6540887 0.132075 0.184161 FALSE 0.000293746 ENSE00002376529_017 ENSE00002376529 017 3 57301705 57301874 + 65 51 54 G A 57301843 1854 139 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGAGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 57267814 57267815 57267815 downstr_intron 23 1.433962 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGAGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 190 71 0.9687355 1 0.9843677 1 0.9821084 0.8464346 0.8831698 NA NA 0.1223009 0.1168302 0.9910542 0.8648022 NA 0.1195655 NA FALSE NA 0.353 -1.599 . downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 1 NA GGG G,A 3.295e-05 3:57267815 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 non_coding_transcript_exon_variant 1.147405 0.62222 0.02149 0.099367 0.8592754 0.133456 0.184161 FALSE 1.63639e-05 ENSE00002376529_018 ENSE00002376529 018 3 57301705 57301874 + 65 51 54 A C 57301846 1855 142 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCCCAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 57267817 57267818 57267818 downstr_intron 26 1.490566 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCCCAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 30 292 0.9324298 0.9917875 0.9621086 1 0.9821084 0.8464346 0.8831698 NA NA 0.08599514 0.1086177 0.9910542 0.8648022 NA 0.09730644 NA FALSE NA 0.039 -0.442 . downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 1 NA CAC A,C 8.237e-06 3:57267818 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 non_coding_transcript_exon_variant 0.821437 0.63369 0.03356 0.099367 0.8273194 0.132075 0.184161 FALSE 4.0996e-06 ENSE00002376529_021 ENSE00002376529 021 3 57301705 57301874 + 65 51 54 A G 57301864 1858 160 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTGATCGCAGCAC 57267676 57267846 57267835 57267836 57267836 downstr_intron 44 1.830189 GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTGATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC mutant NA NA NA NA NA 81 325 1 1 1 1 0.9821084 0.8464346 0.8831698 NA NA 0.1535654 0.1168302 0.9910542 0.8648022 NA 0.1351978 NA FALSE NA 0.001 0.33 . downstream_gene_variant MODIFIER ASB14 HGNC 19766 ENST00000487349 1 NA TAA A,G 1.647e-05 3:57267836 APPL1 HGNC Symbol protein_coding 45731 ENSG00000157500 ENSE00003594957 non_coding_transcript_exon_variant 0.021856 0.28255 0.04348 0.099367 0.3959584 0.0476178 0.184161 FALSE 1.65145e-05 ENSE00002376529_BRK ENSE00002376529 BRK 3 57301705 57301874 + 65 51 54 A,G; T,T NA NA NA GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTTTATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGCCAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC 57267676 57267846 NA NA NA NA NA NA GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTTTATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGCCAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC GATACTTGACATTTTTGCTTTGTTGTGAGAACTGCCTGAATTTTTCATACTTTTTCTCTTTTTAGATATGTGATTCTGTTGGACTGGCAAAACAGATAGCTTTGCATGCTGAACTGGTAAGAATCCAAGATGTGGCTGGGCACAGTGGTTCACACCTGTAATCGCAGCAC control 200 51 0 0 0 30 142 0 0 0 1 0.9821084 0.8464346 0.8831698 -1 -0.9821084 -0.8464346 -0.8831698 0.9910542 0.8648022 -0.9910542 -0.8648022 0.126252 TRUE TRUE NA NA NA NA NA ASB14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APPL1 NA NA NA ENSG00000157500 ENSE00003594957 NA NA NA NA NA NA NA 0.184161 FALSE NA ENSE00002376718_000 ENSE00002376718 000 7 30962129 30962298 + 50 81 39 NA NA NA NA NA CACCTATGACTCTCTGCCTTCGCCCCTCCCTCTGTTTCTTTCCCTCACAGATTGACTACACTGGCTGTGGGATTAACCCTGCTCGGTCCTTTGGCTCCGCGGTGATCACACACAACTTCAGCAACCACTGGGTAGGAGACCCACGGGGGGTGGGGTGGGAAGCTTTGGTG 30922513 30922683 NA NA NA NA NA NA CACCTATGACTCTCTGCCTTCGCCCCTCCCTCTGTTTCTTTCCCTCACAGATTGACTACACTGGCTGTGGGATTAACCCTGCTCGGTCCTTTGGCTCCGCGGTGATCACACACAACTTCAGCAACCACTGGGTAGGAGACCCACGGGGGGTGGGGTGGGAAGCTTTGGTG CACCTATGACTCTCTGCCTTCGCCCCTCCCTCTGTTTCTTTCCCTCACAGATTGACTACACTGGCTGTGGGATTAACCCTGCTCGGTCCTTTGGCTCCGCGGTGATCACACACAACTTCAGCAACCACTGGGTAGGAGACCCACGGGGGGTGGGGTGGGAAGCTTTGGTG natural 18 10 0.9989936 0.9951093 0.9970515 359 815 0.8856236 0.9973503 0.9414869 0.9989936 0.9951093 0.8856236 0.9973503 0 0 0 0 0.9970515 0.9414869 0 0 0 FALSE FALSE NA NA NA NA NA AQP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AQP1 NA NA NA ENSG00000240583 ENSE00003619210 NA NA NA NA NA NA NA 0.04992564 FALSE NA ENSE00002376872_000 ENSE00002376872 000 3 184648217 184648386 + 41 99 30 NA NA NA NA NA GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 NA NA NA NA NA NA AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC natural 30 90 0.85 0.8133356 0.8316678 1666 424 0.7617441 0.7958922 0.7788181 0.85 0.8133356 0.7617441 0.7958922 0 0 0 0 0.8316678 0.7788181 0 0 0 FALSE FALSE NA NA NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS8 NA NA NA ENSG00000156931 ENSE00003493857 NA NA NA NA NA NA NA 3.618198e-06 FALSE NA ENSE00002376872_001 ENSE00002376872 001 3 184648217 184648386 + 41 99 30 T G 184648227 3884 11 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCCTTCACTCACT 184930428 184930598 184930438 184930439 184930439 upstr_intron -31 -0.7317073 AGTGAGTGAAGGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 82 82 0.8 0.8 0.8 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.03825592 0.004107795 0.8316678 0.7788181 NA 0.02118186 NA FALSE NA 0.002 0.06 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 1 NA ATG T,G 8.277e-06 3:184930439 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 intron_variant 0.629866 0.20411 0.11051 0.156188 0.731413 0.105601 3.618198e-06 FALSE 4.12919e-06 ENSE00002376872_002 ENSE00002376872 002 3 184648217 184648386 + 41 99 30 A G 184648239 3885 23 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCCTGAAGAGCACAAGACAACATAATTTATTCATTCACTCACT 184930428 184930598 184930450 184930451 184930451 upstr_intron -19 -0.4390244 AGTGAGTGAATGAATAAATTATGTTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 993 121 0.9353369 0.9435707 0.9394538 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.1735928 0.1476785 0.8316678 0.7788181 NA 0.1606357 NA FALSE NA 0 -0.161 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 1 NA TAT A,G 1.655e-05 3:184930451 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 intron_variant 1.41636 0.08742 0.00458 0.156188 0.8062372 0.226023 3.618198e-06 FALSE 8.2052e-06 ENSE00002376872_003 ENSE00002376872 003 3 184648217 184648386 + 41 99 30 C T 184648252 3886 36 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCCTGAAAAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 184930463 184930464 184930464 upstr_intron -6 -0.1219512 AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTTTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 794 889 0.9872102 1 0.9936051 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.2254662 0.2041078 0.8316678 0.7788181 NA 0.214787 NA FALSE NA 0.001 -0.092 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 rs372734423 1 NA T:0 T:0.0001 TCT C,T 1.655e-05 3:184930464 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 splice_region_variant 1.560416 0.20556 0.02733 0.156188 0.6610678 0.326738 3.618198e-06 FALSE 2.04097e-05 ENSE00002376872_004 ENSE00002376872 004 3 184648217 184648386 + 41 99 30 A G 184648270 3887 54 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATCAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 184930481 184930482 184930482 exon 13 0.1313131 AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTGATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 200 390 0.9865021 0.984288 0.9853951 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.2247581 0.1883958 0.8316678 0.7788181 NA 0.2065769 NA FALSE NA 1 8.498 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 rs530854680 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAA A,G 8.275e-06 3:184930482 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 missense_variant 3.450337 0.99331 0.98798 0.736574 0.9904495 0 3.618198e-06 FALSE 4.07405e-06 ENSE00002376872_005 ENSE00002376872 005 3 184648217 184648386 + 41 99 30 T A 184648273 3888 57 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTTATTAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 184930484 184930485 184930485 exon 16 0.1616162 AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATAACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 29 2526 0.667965 0.7130291 0.690497 0.85 0.8133356 0.7617441 0.7958922 NA NA -0.0937791 -0.08286312 0.8316678 0.7788181 NA -0.08832111 NA FALSE NA 1 5.565 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 1 NA TTA T,A 0.0001572 3:184930485 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 missense_variant 7.143406 0.99326 0.97333 0.736574 0.9893182 0 3.618198e-06 FALSE 0.000109972 ENSE00002376872_007 ENSE00002376872 007 3 184648217 184648386 + 41 99 30 T C 184648284 3890 68 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATGTTGTGAATGTAATTAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 184930495 184930496 184930496 exon 27 0.2727273 AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAACATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 19 492 1 0.9705165 0.9852582 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.2382559 0.1746243 0.8316678 0.7788181 NA 0.2064401 NA FALSE NA 0.989 0.224 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 1 NA ATA T,C 8.275e-06 3:184930496 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 synonymous_variant 0.778574 0.9652 0.5543 0.736574 0.65731 0 3.618198e-06 FALSE 4.07063e-06 ENSE00002376872_011 ENSE00002376872 011 3 184648217 184648386 + 41 99 30 A G 184648306 3894 90 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACCGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 184930517 184930518 184930518 exon 49 0.4949495 AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACGGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 206 290 0.9885048 0.9994543 0.9939795 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.2267607 0.2035621 0.8316678 0.7788181 NA 0.2151614 NA FALSE NA 1 6.705 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 1 NA CAG A,G 8.272e-06 3:184930518 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 missense_variant 2.758655 0.9886 0.97321 0.736574 0.9957652 0 3.618198e-06 FALSE 8.13392e-06 ENSE00002376872_015 ENSE00002376872 015 3 184648217 184648386 + 41 99 30 G A 184648339 3898 123 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTCAATATGATCCATTGTTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 184930550 184930551 184930551 exon -18 0.8282828 AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAACAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 145 12 0.8945935 0.95 0.9222968 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.1328495 0.1541078 0.8316678 0.7788181 NA 0.1434786 NA FALSE NA 1 3.948 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 1 NA AGC G,A 0.0001323 3:184930551 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 missense_variant 3.818792 0.99158 0.95329 0.736574 0.9949048 0 3.618198e-06 FALSE 0.000130137 ENSE00002376872_019 ENSE00002376872 019 3 184648217 184648386 + 41 99 30 G C 184648354 3902 138 GGTGAAGTGTGAAGTTTTGCGCATCAGTACCTGAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 184930565 184930566 184930566 exon -3 0.979798 AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTCAGGTACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 96 7760 0.9694454 0.9511013 0.9602733 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.2077013 0.1552091 0.8316678 0.7788181 NA 0.1814552 NA FALSE NA 1 4.048 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 1 NA TGA G,C 8.267e-06 3:184930566 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 missense_variant 2.001901 0.98601 0.90846 0.736574 0.9951887 0 3.618198e-06 FALSE 4.06812e-06 ENSE00002376872_022 ENSE00002376872 022 3 184648217 184648386 + 41 99 30 A G 184648370 3905 154 GGTGAAGTGTGAAGTTCTGCGCATCAGTACCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCCTGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 184930581 184930582 184930582 downstr_intron 14 1.482759 AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAGAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC mutant NA NA NA NA NA 857 704 0.8 0.8401023 0.8200512 0.85 0.8133356 0.7617441 0.7958922 NA NA 0.03825592 0.04421012 0.8316678 0.7788181 NA 0.04123302 NA FALSE NA 0.025 0.154 . downstream_gene_variant MODIFIER VPS8 HGNC 29122 ENST00000452140 rs371154281 1 NA G:0 G:0.0002 AAA A,G 0.0001984 3:184930582 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003493857 intron_variant 0.120657 0.19316 0.09023 0.099367 0.2006062 0.0532412 3.618198e-06 FALSE 0.00017514 ENSE00002376872_BRK ENSE00002376872 BRK 3 184648217 184648386 + 41 99 30 A,G; T,T NA NA NA GGTGAAGTGTGAAGTTTTGCGCATCAGTGGCTCAATATGATCCATTGCTTTCTGCCATACAGACTGCTTCTCCTCTGCACTGTGTCCGGGAATGGATAAGATATTGTGAATGTAATTAAAGACTTCTTCAAGAAGAGCACAAGACAATATAATTTATTCATTCACTCACT 184930428 184930598 NA NA NA NA NA NA AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCTTGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGCCACTGATGCGCAAAACTTCACACTTCACC AGTGAGTGAATGAATAAATTATATTGTCTTGTGCTCTTCAGGAAGAAGTCTTTAATTACATTCACAATATCTTATCCATTCCCGGACACAGTGCAGAGGAGAAGCAGTCTGTATGGCAGAAAGCAATGGATCATATTGAGGTACTGATGCGCAAAACTTCACACTTCACC control NA NA NA NA NA 112 265 0 0.1662125 0.08310626 0.85 0.8133356 0.7617441 0.7958922 NA NA -0.7617441 -0.6296797 0.8316678 0.7788181 NA -0.6957119 NA TRUE NA NA NA NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS8 NA NA NA ENSG00000156931 ENSE00003493857 NA NA NA NA NA NA NA 3.618198e-06 FALSE NA ENSE00002377607_000 ENSE00002377607 000 21 44107976 44108145 + 51 78 41 NA NA NA NA NA GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 NA NA NA NA NA NA CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC natural 30 10 0.9713108 0.9951282 0.9832195 807 1236 0.8174148 0.9022304 0.8598226 0.9713108 0.9951282 0.8174148 0.9022304 0 0 0 0 0.9832195 0.8598226 0 0 0 FALSE FALSE NA NA NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE9A NA NA NA ENSG00000160191 ENSE00003508313 NA NA NA NA NA NA NA 0.002017364 FALSE NA ENSE00002377607_003 ENSE00002377607 003 21 44107976 44108145 + 51 78 41 G A 44107995 263 20 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCTCATAGTGTGCTCTGGGATG 42687865 42688035 42687884 42687885 42687885 upstr_intron -32 -0.6078431 CATCCCAGAGCACACTATGAGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 456 237 0.9976392 1 0.9988196 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1802244 0.09776956 0.9832195 0.8598226 NA 0.138997 NA FALSE NA 0 -0.607 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA GGG G,A 1.647e-05 21:42687885 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 intron_variant 0.187331 0.17578 0.05122 0.067858 0.5547734 0.0477034 0.002017364 FALSE 2.04574e-05 ENSE00002377607_004 ENSE00002377607 004 21 44107976 44108145 + 51 78 41 C T 44107997 264 22 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCACCCATAGTGTGCTCTGGGATG 42687865 42688035 42687886 42687887 42687887 upstr_intron -30 -0.5686275 CATCCCAGAGCACACTATGGGTGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 15 974 0.8725688 0.9990962 0.9358325 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.05515395 0.09686579 0.9832195 0.8598226 NA 0.07600987 NA FALSE NA 0 -0.781 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA GCG T,T 1.647e-05 21:42687887 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 intron_variant -0.159459 0.06174 0.00106 0.067858 0.5696726 0.0477034 0.002017364 FALSE 4.49968e-05 ENSE00002377607_005 ENSE00002377607 005 21 44107976 44108145 + 51 78 41 G A 44107998 265 23 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTTGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687887 42687888 42687888 upstr_intron -29 -0.5490196 CATCCCAGAGCACACTATGGGCAAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 105 418 1 1 1 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.09776956 0.9832195 0.8598226 NA 0.1401774 NA FALSE NA 0 0.033 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 rs367855927 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0.0002 A:0.0003 CGA G,A 9.884e-05 21:42687888 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 intron_variant -0.016571 0.18751 0.03085 0.067858 0.5553057 0.0477034 0.002017364 FALSE 8.58825e-05 ENSE00002377607_010 ENSE00002377607 010 21 44107976 44108145 + 51 78 41 G A 44108033 270 58 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTTGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687922 42687923 42687923 exon 7 0.08974359 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACAACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 126 41 0.9200785 1 0.9600393 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1026637 0.09776956 0.9832195 0.8598226 NA 0.1002166 NA FALSE NA 0.003 -2.082 rs191138559 intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 rs191138559 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 CGA G,A 0.0001565 21:42687923 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 0.592652 0.05555 0.00431 0.67177 0.4541701 0 0.002017364 FALSE 0.000167183 ENSE00002377607_011 ENSE00002377607 011 21 44107976 44108145 + 51 78 41 C T 44108042 271 67 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGAGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687931 42687932 42687932 exon 16 0.2051282 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCTCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 370 59 0.880654 1 0.940327 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.06323917 0.09776956 0.9832195 0.8598226 NA 0.08050436 NA FALSE NA 0.821 -1.946 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA CCC C,T 3.295e-05 21:42687932 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 1.765446 0.94904 0.03642 0.67177 0.9065835 0 0.002017364 FALSE 1.22287e-05 ENSE00002377607_013 ENSE00002377607 013 21 44107976 44108145 + 51 78 41 G A 44108055 273 80 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTTGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687944 42687945 42687945 exon 29 0.3717949 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCAACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 144 368 0.9798115 0.99957 0.9896907 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1623967 0.09733956 0.9832195 0.8598226 NA 0.1298681 NA FALSE NA 0.973 3.505 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 COSM3693802 1 NA CGA G,A 2.471e-05 21:42687945 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 5.143853 0.97899 0.75601 0.67177 0.9980067 0 0.002017364 FALSE 2.04017e-05 ENSE00002377607_014 ENSE00002377607 014 21 44107976 44108145 + 51 78 41 A G 44108056 274 81 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGCCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687945 42687946 42687946 exon 30 0.3846154 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGGCGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 262 1820 0.9920655 0.9992859 0.9956757 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1746506 0.09705542 0.9832195 0.8598226 NA 0.135853 NA FALSE NA 0.969 3.002 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 rs375760902 1 NA G:0 G:0.0001 GAC A,G 8.236e-06 21:42687946 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 3.072581 0.97712 0.72355 0.67177 0.9955989 0 0.002017364 FALSE 4.07953e-06 ENSE00002377607_016 ENSE00002377607 016 21 44107976 44108145 + 51 78 41 G A 44108058 276 83 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTTGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687947 42687948 42687948 exon 32 0.4102564 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACAACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 326 102 1 1 1 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.09776956 0.9832195 0.8598226 NA 0.1401774 NA FALSE NA 0.976 3.187 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 COSM1031083 1 NA CGA G,A 5.765e-05 21:42687948 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 3.61204 0.98075 0.76667 0.67177 0.9980727 0 0.002017364 FALSE 3.67173e-05 ENSE00002377607_017 ENSE00002377607 017 21 44107976 44108145 + 51 78 41 C T 44108060 277 85 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCATCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687949 42687950 42687950 exon 34 0.4358974 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGATGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 381 137 1 1 1 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.09776956 0.9832195 0.8598226 NA 0.1401774 NA FALSE NA 0.811 -0.4 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 COSM3693803 1 NA ACG C,T 3.295e-05 21:42687950 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 1.941375 0.94091 0.19274 0.67177 0.9816133 0 0.002017364 FALSE 2.44752e-05 ENSE00002377607_018 ENSE00002377607 018 21 44107976 44108145 + 51 78 41 G A 44108061 278 86 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGTGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687950 42687951 42687951 exon 35 0.4487179 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACACCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 154 195 0.9341813 0.9806498 0.9574156 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1167665 0.07841936 0.9832195 0.8598226 NA 0.09759294 NA FALSE NA 0.952 0.98 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA CGC G,A 2.471e-05 21:42687951 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 3.067625 0.97072 0.6247 0.67177 0.9932969 0 0.002017364 FALSE 4.07973e-05 ENSE00002377607_020 ENSE00002377607 020 21 44107976 44108145 + 51 78 41 A G 44108073 280 98 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGACGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687962 42687963 42687963 exon -32 0.6025641 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCGTCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 70 26 1 0.9266549 0.9633275 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.02442451 0.9832195 0.8598226 NA 0.1035048 NA FALSE NA 1 4.728 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 rs565528895 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAT A,G 8.236e-06 21:42687963 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 2.395909 0.97801 0.87361 0.67177 0.9978335 0 0.002017364 FALSE 1.6309e-05 ENSE00002377607_023 ENSE00002377607 023 21 44107976 44108145 + 51 78 41 C T 44108079 283 104 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGAGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687968 42687969 42687969 exon -26 0.6794872 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACTCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 10 25 1 0.95 0.975 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.04776956 0.9832195 0.8598226 NA 0.1151774 NA FALSE NA 1 3.974 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA CCC C,T 4.118e-05 21:42687969 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 4.795623 0.98149 0.82709 0.67177 0.996544 0 0.002017364 FALSE 0.000114245 ENSE00002377607_024 ENSE00002377607 024 21 44107976 44108145 + 51 78 41 C T 44108081 284 106 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTAGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687970 42687971 42687971 exon -24 0.7051282 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCTACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 19 32 1 1 1 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.09776956 0.9832195 0.8598226 NA 0.1401774 NA FALSE NA 1 1.092 NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:42687971 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 1.627484 0.96408 0.52755 0.67177 0.8393953 0 0.002017364 FALSE 8.1582e-06 ENSE00002377607_026 ENSE00002377607 026 21 44107976 44108145 + 51 78 41 C T 44108088 286 113 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGACATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687977 42687978 42687978 exon -17 0.7948718 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGTCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 81 163 0.9355899 1 0.9677949 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1181751 0.09776956 0.9832195 0.8598226 NA 0.1079723 NA FALSE NA 1 3.974 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA GCC C,T 8.236e-06 21:42687978 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 4.760683 0.98149 0.82709 0.67177 0.9984253 0 0.002017364 FALSE 4.08257e-06 ENSE00002377607_027 ENSE00002377607 027 21 44107976 44108145 + 51 78 41 C T 44108090 287 115 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCAGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687979 42687980 42687980 exon -15 0.8205128 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCTGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 40 524 1 1 1 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.09776956 0.9832195 0.8598226 NA 0.1401774 NA FALSE NA 0.001 -3.544 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 COSM1714050 1 NA CCG G,T 1.647e-05 21:42687980 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 0.818049 0.06985 0.00307 0.67177 0.8851492 0 0.002017364 FALSE 2.04118e-05 ENSE00002377607_029 ENSE00002377607 029 21 44107976 44108145 + 51 78 41 C T 44108092 289 117 GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCACGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42687981 42687982 42687982 exon -13 0.8461538 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGTGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 368 255 1 0.9921138 0.9960569 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.08988336 0.9832195 0.8598226 NA 0.1362343 NA FALSE NA 0.712 3.974 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA GCG C,T 5.765e-05 21:42687982 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 missense_variant 2.538974 0.51829 0.57647 0.67177 0.9972691 0 0.002017364 FALSE 4.08337e-05 ENSE00002377607_033 ENSE00002377607 033 21 44107976 44108145 + 51 78 41 C T 44108120 293 145 GTGCCAGGCACACCCCGAGGAGCGCAGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42688009 42688010 42688010 downstr_intron 16 1.4 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCTGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 198 971 0.9966262 0.9963997 0.996513 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1792114 0.09416924 0.9832195 0.8598226 NA 0.1366903 NA FALSE NA 0 -1.565 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 rs375419428 1 NA T:0.0002 T:0 CCG C,T 8.236e-06 21:42688010 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 intron_variant -0.10177 0.11955 0.0045 0.069865 0.7642306 0.048455 0.002017364 FALSE NA ENSE00002377607_035 ENSE00002377607 035 21 44107976 44108145 + 51 78 41 C T 44108122 295 147 GTGCCAGGCACACCCCGAGGAGCACGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42688011 42688012 42688012 downstr_intron 18 1.45 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGTGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 49 268 1 1 1 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.09776956 0.9832195 0.8598226 NA 0.1401774 NA FALSE NA 0 -0.418 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA GCG C,T 1.647e-05 21:42688012 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 intron_variant -0.233847 0.13881 0.00977 0.069865 0.7116544 0.048455 0.002017364 FALSE 1.64571e-05 ENSE00002377607_036 ENSE00002377607 036 21 44107976 44108145 + 51 78 41 G A 44108123 296 148 GTGCCAGGCACACCCCGAGGAGTGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42688012 42688013 42688013 downstr_intron 19 1.475 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCACTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 563 244 1 1 1 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.09776956 0.9832195 0.8598226 NA 0.1401774 NA FALSE NA 0 -0.984 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA CGC G,A 3.295e-05 21:42688013 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 intron_variant -0.013628 0.18958 0.02566 0.069865 0.7191262 0.048455 0.002017364 FALSE 3.70954e-05 ENSE00002377607_037 ENSE00002377607 037 21 44107976 44108145 + 51 78 41 C T 44108124 297 149 GTGCCAGGCACACCCCGAGGAACGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42688013 42688014 42688014 downstr_intron 20 1.5 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGTTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 233 452 1 1 1 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1825852 0.09776956 0.9832195 0.8598226 NA 0.1401774 NA FALSE NA 0 -3.883 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA GCT C,T 8.236e-06 21:42688014 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 intron_variant -0.281001 0.1507 0.00664 0.069865 0.8006917 0.048455 0.002017364 FALSE 4.11906e-06 ENSE00002377607_039 ENSE00002377607 039 21 44107976 44108145 + 51 78 41 G A 44108130 299 155 GTGCCAGGCACACCCTGAGGAGCGCGGCCGGAGCCTCTTACCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCCTGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 42688019 42688020 42688020 downstr_intron 26 1.65 CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCAGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC mutant NA NA NA NA NA 304 395 0.9985013 1 0.9992507 0.9713108 0.9951282 0.8174148 0.9022304 NA NA 0.1810865 0.09776956 0.9832195 0.8598226 NA 0.139428 NA FALSE NA 0 -1.543 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1/6 1 NA CGG G,A 9.06e-05 21:42688020 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003508313 intron_variant -0.168338 0.16804 0.01134 0.069865 0.6994557 0.048455 0.002017364 FALSE 9.08723e-05 ENSE00002377607_BRK ENSE00002377607 BRK 21 44107976 44108145 + 51 78 41 A,G; T,T NA NA NA GTGCCAGGCACACCCCGAGGAGCGCGGCCGGAGCCTCTTGGCGTTCTGAATTCGCGGGCATGGTGGGGTCGATGGAGACCATGGCGTCGTCGGTGGTCAGCAGGGAGATGGTCGTGTTCAAGGAAAACACACCCAAGCCCGTGTTTTCGCCCATAGTGTGCTCTGGGATG 42687865 42688035 NA NA NA NA NA NA CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCTTGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGCCAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC CATCCCAGAGCACACTATGGGCGAAAACACGGGCTTGGGTGTGTTTTCCAGGAACACGACCATCTCCCTGCTGACCACCGACGACGCCATGGTCTCCATCGACCCCACCATGCCCGCGAATTCAGAACGGTAAGAGGCTCCGGCCGCGCTCCTCGGGGTGTGCCTGGCAC control 82 51 0 0 0 NA NA NA NA NA 0.9713108 0.9951282 0.8174148 0.9022304 -0.9713108 -0.9951282 NA NA 0.9832195 0.8598226 -0.9832195 NA NA NA TRUE NA NA NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE9A NA NA NA ENSG00000160191 ENSE00003508313 NA NA NA NA NA NA NA 0.002017364 FALSE NA ENSE00002377628_000 ENSE00002377628 000 12 105459010 105459179 - 35 90 45 NA NA NA NA NA GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 NA NA NA NA NA NA GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC natural 14 78 0.9899191 0.9454164 0.9676677 3140 4486 0.9737108 0.9613003 0.9675055 0.9899191 0.9454164 0.9737108 0.9613003 0 0 0 0 0.9676677 0.9675055 0 0 0 FALSE FALSE NA NA NA NA NA ALDH1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH1L2 NA NA NA ENSG00000136010 ENSE00003566583 NA NA NA NA NA NA NA 3.500102e-11 FALSE NA ENSE00002377628_BRK ENSE00002377628 BRK 12 105459010 105459179 - 35 90 45 A,G; T,T NA NA NA GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTTTATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGCCATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 NA NA NA NA NA NA GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTTTATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGCCATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC control 62 115 0.02107296 0 0.01053648 1515 539 0.0009914601 0.01588139 0.008436425 0.9899191 0.9454164 0.9737108 0.9613003 -0.9688461 -0.9454164 -0.9727193 -0.9454189 0.9676677 0.9675055 -0.9571313 -0.9590691 0.001937833 TRUE TRUE NA NA NA NA NA ALDH1L2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH1L2 NA NA NA ENSG00000136010 ENSE00003566583 NA NA NA NA NA NA NA 3.500102e-11 FALSE NA ENSE00002377746_000 ENSE00002377746 000 2 71871054 71871223 + 41 99 30 NA NA NA NA NA GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 NA NA NA NA NA NA GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT natural NA NA NA NA NA 1140 2060 0.9776517 0.9908042 0.9842279 NA NA 0.9776517 0.9908042 NA NA 0 0 NA 0.9842279 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYSF NA NA NA ENSG00000135636 ENSE00003510739 NA NA NA NA NA NA NA 1.002551e-15 FALSE NA ENSE00002377746_001 ENSE00002377746 001 2 71871054 71871223 + 41 99 30 G A 71871071 1603 18 GTCCTGTTTCTGAAATGATCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71643940 71643941 71643941 upstr_intron -24 -0.5609756 GTCCTGTTTCTGAAATGATCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 46 999 1 0.9998417 0.9999208 NA NA 0.9776517 0.9908042 NA NA 0.02234834 0.009037428 NA 0.9842279 NA 0.01569289 NA FALSE NA 0 -2.103 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:71643941 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 intron_variant 0.22741 0.1075 0.01015 0.062308 0.7502301 0.0635647 1.002551e-15 FALSE 4.60104e-06 ENSE00002377746_004 ENSE00002377746 004 2 71871054 71871223 + 41 99 30 C T 71871087 1606 34 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACTCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71643956 71643957 71643957 upstr_intron -8 -0.1707317 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACTCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 72 34 0.9569032 1 0.9784516 NA NA 0.9776517 0.9908042 NA NA -0.02074842 0.009195771 NA 0.9842279 NA -0.005776325 NA FALSE NA 0 -0.303 NA NA NA DYSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:71643957 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 splice_region_variant 0.129137 0.24995 0.03836 0.062308 0.5421347 0.128468 1.002551e-15 FALSE 2.14638e-05 ENSE00002377746_006 ENSE00002377746 006 2 71871054 71871223 + 41 99 30 A G 71871089 1608 36 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCGCTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71643958 71643959 71643959 upstr_intron -6 -0.1219512 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCGCTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 33 132 1 1 1 NA NA 0.9776517 0.9908042 NA NA 0.02234834 0.009195771 NA 0.9842279 NA 0.01577206 NA FALSE NA 0 -0.38 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DYSF HGNC 3097 ENST00000479049 11/25 1 NA CAC A,G 8.237e-06 2:71643959 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 splice_region_variant 0.295509 0.35656 0.00833 0.099367 0.6120906 0.139529 1.002551e-15 FALSE 8.52988e-06 ENSE00002377746_008 ENSE00002377746 008 2 71871054 71871223 + 41 99 30 G A 71871095 1610 42 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGAAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71643964 71643965 71643965 exon 1 0.01010101 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGAAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 145 11 1 1 1 NA NA 0.9776517 0.9908042 NA NA 0.02234834 0.009195771 NA 0.9842279 NA 0.01577206 NA FALSE NA 1 6.581 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW DYSF HGNC 3097 ENST00000479049 12/26 rs562261472 1 A:0.0008 A:0 A:0 NA A:0 A:0 A:0.0041 GGA G,A 0.0002142 2:71643965 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 missense_variant 4.961668 0.96157 0.89306 0.706548 0.9988813 0 1.002551e-15 FALSE 0.000143164 ENSE00002377746_010 ENSE00002377746 010 2 71871054 71871223 + 41 99 30 C T 71871109 1612 56 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATTGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71643978 71643979 71643979 exon 15 0.1515152 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATTGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 678 59 0.9948206 1 0.9974103 NA NA 0.9776517 0.9908042 NA NA 0.01716898 0.009195771 NA 0.9842279 NA 0.01318238 NA FALSE NA 0.782 -0.692 rs148055736 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYSF HGNC 3097 ENST00000479049 12/26 rs148055736 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0016 T:0 TCG C,T 0.0001071 2:71643979 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 synonymous_variant 2.414945 0.90295 0.19759 0.706548 0.704534 0 1.002551e-15 FALSE 9.54919e-05 ENSE00002377746_013 ENSE00002377746 013 2 71871054 71871223 + 41 99 30 C A 71871127 1615 74 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTATTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71643996 71643997 71643997 exon 33 0.3333333 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTATTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 992 171 0.9988326 1 0.9994163 NA NA 0.9776517 0.9908042 NA NA 0.02118093 0.009195771 NA 0.9842279 NA 0.01518835 NA FALSE NA 1 1.101 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:71643997 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 missense_variant 4.960358 0.9273 0.77547 0.706548 0.9987934 0 1.002551e-15 FALSE 0 ENSE00002377746_014 ENSE00002377746 014 2 71871054 71871223 + 41 99 30 C T 71871127 1616 74 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTTTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71643996 71643997 71643997 exon 33 0.3333333 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTTTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 315 131 1 1 1 NA NA 0.9776517 0.9908042 NA NA 0.02234834 0.009195771 NA 0.9842279 NA 0.01577206 NA FALSE NA 1 1.101 NA NA NA DYSF NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DYSF NA NA NA ENSG00000135636 ENSE00003510739 synonymous_variant 1.924951 0.92159 0.63708 0.706548 0.6285549 0 1.002551e-15 FALSE 0.000489837 ENSE00002377746_015 ENSE00002377746 015 2 71871054 71871223 + 41 99 30 A G 71871137 1617 84 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCGTAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71644006 71644007 71644007 exon 43 0.4343434 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCGTAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 120 149 1 0.9986792 0.9993396 NA NA 0.9776517 0.9908042 NA NA 0.02234834 0.007874966 NA 0.9842279 NA 0.01511165 NA FALSE NA 0.022 2.273 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYSF HGNC 3097 ENST00000479049 12/26 1 NA CAT A,G 8.237e-06 2:71644007 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 missense_variant -0.438671 0.26907 0.14297 0.706548 0.2838366 0 1.002551e-15 FALSE 4.10627e-06 ENSE00002377746_016 ENSE00002377746 016 2 71871054 71871223 + 41 99 30 T C 71871138 1618 85 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCACAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71644007 71644008 71644008 exon 44 0.4444444 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCACAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 61 147 1 1 1 NA NA 0.9776517 0.9908042 NA NA 0.02234834 0.009195771 NA 0.9842279 NA 0.01577206 NA FALSE NA 0 -0.07 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYSF HGNC 3097 ENST00000479049 12/26 rs559940171&COSM2150265&COSM2150264 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATA T,C 1.647e-05 2:71644008 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 missense_variant 0.608887 0.25458 0.07749 0.706548 0.7752673 0 1.002551e-15 FALSE 3.28407e-05 ENSE00002377746_021 ENSE00002377746 021 2 71871054 71871223 + 41 99 30 T C 71871164 1623 111 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCCACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71644033 71644034 71644034 exon -30 0.7070707 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCCACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 146 176 1 0.9997835 0.9998917 NA NA 0.9776517 0.9908042 NA NA 0.02234834 0.008979247 NA 0.9842279 NA 0.0156638 NA FALSE NA 1 6.924 rs150139276 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYSF HGNC 3097 ENST00000479049 12/26 rs150139276 1 NA C:0 C:0.0007 CTA T,C 0.0004118 2:71644034 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 missense_variant 5.524376 0.96778 0.91804 0.706548 0.9983904 0 1.002551e-15 FALSE 0.000425223 ENSE00002377746_022 ENSE00002377746 022 2 71871054 71871223 + 41 99 30 G T 71871175 1624 122 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAATGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71644044 71644045 71644045 exon -19 0.8181818 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAATGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 225 44 1 0.9419434 0.9709717 NA NA 0.9776517 0.9908042 NA NA 0.02234834 -0.04886087 NA 0.9842279 NA -0.01325626 NA FALSE NA 1 1.509 rs182185801 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYSF HGNC 3097 ENST00000479049 12/26 rs182185801&COSM3583028&COSM3583027 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 AGG G,T 1.647e-05 2:71644045 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 missense_variant 2.54324 0.91232 0.73368 0.706548 0.9983385 0 1.002551e-15 FALSE 2.07395e-05 ENSE00002377746_025 ENSE00002377746 025 2 71871054 71871223 + 41 99 30 C T 71871188 1627 135 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCTTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71644057 71644058 71644058 exon -6 0.9494949 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCTTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 138 1573 1 0.9998752 0.9999376 NA NA 0.9776517 0.9908042 NA NA 0.02234834 0.009071001 NA 0.9842279 NA 0.01570967 NA FALSE NA 0.631 1.08 rs7573406 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DYSF HGNC 3097 ENST00000479049 12/26 rs7573406&DYSF:c.4504C>T 1 T:0.0086 T:0.0129&T:0.0129 T:0.0101&T:0.0101 NA T:0&T:0 T:0.004&T:0.004 T:0.0153&T:0.0153 T:0.0077&T:0.0077 T:0.0076&T:0.0076 CCT C,T 0.008394 2:71644058 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 synonymous_variant 1.278757 0.9116 0.50056 0.706548 0.5026324 0 1.002551e-15 FALSE 0.00800488 ENSE00002377746_026 ENSE00002377746 026 2 71871054 71871223 + 41 99 30 G T 71871199 1628 146 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGTCCTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71644068 71644069 71644069 downstr_intron 6 1.206897 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGTCCTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 419 5072 0.9958004 0.9997734 0.9977869 NA NA 0.9776517 0.9908042 NA NA 0.01814871 0.008969218 NA 0.9842279 NA 0.01355897 NA FALSE NA 0.665 0.361 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DYSF HGNC 3097 ENST00000479049 12/25 1 NA GGC G,T 1.648e-05 2:71644069 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 splice_region_variant -0.194151 0.3514 0.1134 0.099367 0.4110467 0.192941 1.002551e-15 FALSE NA ENSE00002377746_027 ENSE00002377746 027 2 71871054 71871223 + 41 99 30 C T 71871201 1629 148 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCTTCTCTTCAGTCTGACAGTCGGT 71643923 71644093 71644070 71644071 71644071 downstr_intron 8 1.275862 GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCTTCTCTTCAGTCTGACAGTCGGT GTCCTGTTTCTGAAATGGTCTCTTTCTTTCTACCCACTCAGGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAGGTAAGGCCTCTCTTCAGTCTGACAGTCGGT mutant NA NA NA NA NA 699 86 0.9979809 0.95 0.9739904 NA NA 0.9776517 0.9908042 NA NA 0.02032924 -0.04080423 NA 0.9842279 NA -0.0102375 NA FALSE NA 0 0.984 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DYSF HGNC 3097 ENST00000479049 12/25 1 NA CCT C,T 8.239e-06 2:71644071 DYSF HGNC Symbol protein_coding 233046 ENSG00000135636 ENSE00003510739 splice_region_variant 0.392515 0.31394 0.08845 0.099367 0.3089891 0.130009 1.002551e-15 FALSE NA ENSE00002378227_000 ENSE00002378227 000 2 69304490 69304659 + 50 81 39 NA NA NA NA NA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 NA NA NA NA NA NA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA natural 41 27 0.9970858 0.9964875 0.9967867 7491 1635 0.9707251 0.8896591 0.9301921 0.9970858 0.9964875 0.9707251 0.8896591 0 0 0 0 0.9967867 0.9301921 0 0 0 FALSE FALSE NA NA NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00003504437 NA NA NA NA NA NA NA 0.9852832 TRUE NA ENSE00002378227_001 ENSE00002378227 001 2 69304490 69304659 + 50 81 39 C A 69304505 1415 16 TCCAAGCCTAACAGTATCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077372 69077373 69077373 upstr_intron -35 -0.68 TCCAAGCCTAACAGTATCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 75 128 1 1 1 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02927488 0.1103409 0.9967867 0.9301921 NA 0.06980789 NA FALSE NA 0.486 2.317 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/9 1 NA TCT C,A 1.647e-05 2:69077373 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 non_coding_transcript_exon_variant 0.097119 0.32036 0.31219 0.06567 0.6223761 0.0559498 0.9852832 TRUE 4.47289e-05 ENSE00002378227_004 ENSE00002378227 004 2 69304490 69304659 + 50 81 39 G A 69304513 1418 24 TCCAAGCCTAACAGTCTCCCCATATGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077380 69077381 69077381 upstr_intron -27 -0.52 TCCAAGCCTAACAGTCTCCCCATATGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 1944 2208 0.9910321 0.9971188 0.9940755 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02030701 0.1074597 0.9967867 0.9301921 NA 0.06388335 NA FALSE NA 0 0.002 rs115091560 intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/9 rs115091560 1 A:0.0110 A:0.0401 A:0.0029 NA A:0 A:0 A:0 A:0.0374 A:0.0001 TGT G,A 0.003352 2:69077381 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 non_coding_transcript_exon_variant 0.117639 0.20539 0.01648 0.06567 0.6108656 0.0987888 0.9852832 TRUE 0.00262221 ENSE00002378227_005 ENSE00002378227 005 2 69304490 69304659 + 50 81 39 G A 69304519 1419 30 TCCAAGCCTAACAGTCTCCCCATGTGTTTATGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077386 69077387 69077387 upstr_intron -21 -0.4 TCCAAGCCTAACAGTCTCCCCATGTGTTTATGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 47 251 1 1 1 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02927488 0.1103409 0.9967867 0.9301921 NA 0.06980789 NA FALSE NA 0.217 0.149 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/9 rs369636681 1 NA A:0.0002 A:0 TGT G,A 4.118e-05 2:69077387 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 non_coding_transcript_exon_variant 2.128979 0.88039 0.22627 0.06567 0.7877765 0.750299 0.9852832 TRUE 2.43861e-05 ENSE00002378227_006 ENSE00002378227 006 2 69304490 69304659 + 50 81 39 C G 69304528 1420 39 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGGTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077395 69077396 69077396 upstr_intron -12 -0.22 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGGTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 1772 162 0.9984289 1 0.9992144 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02770374 0.1103409 0.9967867 0.9301921 NA 0.06902232 NA FALSE NA 0.008 0.604 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/9 1 NA GCT C,G 8.236e-06 2:69077396 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 non_coding_transcript_exon_variant 1.894918 0.27098 0.73935 0.06567 0.81013 0.374278 0.9852832 TRUE 4.06471e-06 ENSE00002378227_007 ENSE00002378227 007 2 69304490 69304659 + 50 81 39 G T 69304530 1421 41 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTTTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077397 69077398 69077398 upstr_intron -10 -0.18 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTTTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 726 36 1 0.9955812 0.9977906 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02927488 0.1059221 0.9967867 0.9301921 NA 0.0675985 NA FALSE NA 0 -0.084 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:69077398 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 non_coding_transcript_exon_variant 2.092012 0.2277 0.05373 0.06567 0.849134 0.378475 0.9852832 TRUE 4.06431e-06 ENSE00002378227_008 ENSE00002378227 008 2 69304490 69304659 + 50 81 39 G A 69304530 1422 41 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTATGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077397 69077398 69077398 upstr_intron -10 -0.18 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTATGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 425 452 0.993445 0.9996499 0.9965475 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02271991 0.1099908 0.9967867 0.9301921 NA 0.06635538 NA FALSE NA 0 -0.084 NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00003504437 non_coding_transcript_exon_variant 2.248483 0.22784 0.08435 0.06567 0.865885 0.378475 0.9852832 TRUE 4.06431e-06 ENSE00002378227_010 ENSE00002378227 010 2 69304490 69304659 + 50 81 39 C T 69304546 1424 57 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCTGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077413 69077414 69077414 exon 7 0.08641975 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCTGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 844 232 0.9984291 0.9961222 0.9972757 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02770403 0.1064632 0.9967867 0.9301921 NA 0.06708359 NA FALSE NA 0.986 3.037 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/10 1 NA CCG C,T 8.236e-06 2:69077414 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 missense_variant 8.01639 0.97863 0.84976 0.50712 0.9992675 0 0.9852832 TRUE 4.06342e-06 ENSE00002378227_012 ENSE00002378227 012 2 69304490 69304659 + 50 81 39 G T 69304554 1426 65 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCTGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077421 69077422 69077422 exon 15 0.1851852 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCTGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 708 569 0.9736615 1 0.9868308 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.002936389 0.1103409 0.9967867 0.9301921 NA 0.05663865 NA FALSE NA 0 -2.674 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/10 1 NA CGG G,T 8.236e-06 2:69077422 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 synonymous_variant 1.778243 0.58118 0.02304 0.50712 0.5492017 0 0.9852832 TRUE 4.06395e-06 ENSE00002378227_013 ENSE00002378227 013 2 69304490 69304659 + 50 81 39 G T 69304572 1427 83 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTTTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077439 69077440 69077440 exon 33 0.4074074 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTTTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 252 66 1 1 1 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02927488 0.1103409 0.9967867 0.9301921 NA 0.06980789 NA FALSE NA 1 0.712 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/10 1 NA TGT G,T 8.236e-06 2:69077440 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 synonymous_variant 1.229423 0.96264 0.72198 0.50712 0.6564064 0 0.9852832 TRUE 4.06326e-06 ENSE00002378227_014 ENSE00002378227 014 2 69304490 69304659 + 50 81 39 C A 69304576 1428 87 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTACCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077443 69077444 69077444 exon 37 0.4567901 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTACCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 80 239 1 0.9782146 0.9891073 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02927488 0.08855546 0.9967867 0.9301921 NA 0.05891517 NA FALSE NA 1 6.521 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/10 1 NA TCC C,A 8.236e-06 2:69077444 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 missense_variant 6.331903 0.98799 0.96552 0.50712 0.9978692 0 0.9852832 TRUE 4.06349e-06 ENSE00002378227_018 ENSE00002378227 018 2 69304490 69304659 + 50 81 39 C T 69304587 1432 98 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGATGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077454 69077455 69077455 exon -34 0.5925926 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGATGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 2865 96 0.9443703 0.8940101 0.9191902 0.9970858 0.9964875 0.9707251 0.8896591 NA NA -0.02635483 0.004351022 0.9967867 0.9301921 NA -0.0110019 NA FALSE NA 0.001 -1.599 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/10 1 NA ACG C,T 6.589e-05 2:69077455 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 synonymous_variant 2.437636 0.93622 0.04878 0.50712 0.5792779 0 0.9852832 TRUE 7.72113e-05 ENSE00002378227_019 ENSE00002378227 019 2 69304490 69304659 + 50 81 39 G A 69304588 1433 99 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACAGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077455 69077456 69077456 exon -33 0.6049383 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACAGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 327 87 0.9683021 1 0.9841511 0.9970858 0.9964875 0.9707251 0.8896591 NA NA -0.002423012 0.1103409 0.9967867 0.9301921 NA 0.05395895 NA FALSE NA 1 8.215 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/10 1 NA CGG G,A 8.236e-06 2:69077456 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 missense_variant 7.358016 0.98785 0.97407 0.50712 0.9988003 0 0.9852832 TRUE 1.2191e-05 ENSE00002378227_022 ENSE00002378227 022 2 69304490 69304659 + 50 81 39 A G 69304616 1436 127 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCGCTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077483 69077484 69077484 exon -5 0.9506173 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCGCTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 47 696 1 0.9971609 0.9985805 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02927488 0.1075019 0.9967867 0.9301921 NA 0.06838837 NA FALSE NA 1 6.09 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/10 rs369048882 1 NA G:0 G:0.0001 CAC A,G 8.236e-06 2:69077484 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 missense_variant 3.267319 0.97596 0.93196 0.50712 0.9856074 0 0.9852832 TRUE 1.21921e-05 ENSE00002378227_024 ENSE00002378227 024 2 69304490 69304659 + 50 81 39 C T 69304631 1438 142 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGTTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 69077498 69077499 69077499 downstr_intron 11 1.289474 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGTTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 455 235 0.9973471 1 0.9986736 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02662201 0.1103409 0.9967867 0.9301921 NA 0.06848146 NA FALSE NA 0 0.126 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/9 1 NA GCT C,T 3.295e-05 2:69077499 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 intron_variant 1.59144 0.18338 0.01759 0.06567 0.8106191 0.223045 0.9852832 TRUE 3.25235e-05 ENSE00002378227_025 ENSE00002378227 025 2 69304490 69304659 + 50 81 39 T C 69304638 1439 149 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCCCTGAGACTAGACATTCAGGCA 69077357 69077527 69077505 69077506 69077506 downstr_intron 18 1.473684 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCCCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 93 161 1 0.9519407 0.9759703 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02927488 0.06228158 0.9967867 0.9301921 NA 0.04577823 NA FALSE NA 0 -0.825 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/9 1 NA CTC T,C 2.471e-05 2:69077506 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 intron_variant -0.030041 0.16133 0.00653 0.06567 0.4580672 0.0600639 0.9852832 TRUE 3.25296e-05 ENSE00002378227_026 ENSE00002378227 026 2 69304490 69304659 + 50 81 39 A C 69304642 1440 153 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGCGACTAGACATTCAGGCA 69077357 69077527 69077509 69077510 69077510 downstr_intron 22 1.578947 TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGCGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA mutant NA NA NA NA NA 757 972 0.9996188 0.9996075 0.9996132 0.9970858 0.9964875 0.9707251 0.8896591 NA NA 0.02889371 0.1099484 0.9967867 0.9301921 NA 0.06942106 NA FALSE NA 0 -0.639 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 8/9 rs576892609 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GAG A,C 3.295e-05 2:69077510 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003504437 intron_variant 0.018729 0.18251 0.02088 0.06567 0.6423898 0.0600639 0.9852832 TRUE 1.21988e-05 ENSE00002378227_BRK ENSE00002378227 BRK 2 69304490 69304659 + 50 81 39 A,G; T,T NA NA NA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCTTCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCACCAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA 69077357 69077527 NA NA NA NA NA NA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCTTCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCACCAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA TCCAAGCCTAACAGTCTCCCCATGTGTTTGTGTATTTGCTGTGTTCTCAGCTGGCCCGGATTGCGGACAGTAAGGATCATGTGTTTCCCGTGAATGACGGCTTTCAGGCTCTGCAAGGCATCATCCACTCAGTAAGTAGAGCTCTTCCTCTGAGACTAGACATTCAGGCA control 268 45 0 0 0 NA NA NA NA NA 0.9970858 0.9964875 0.9707251 0.8896591 -0.9970858 -0.9964875 NA NA 0.9967867 0.9301921 -0.9967867 NA NA NA TRUE NA NA NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00003504437 NA NA NA NA NA NA NA 0.9852832 TRUE NA ENSE00002378296_000 ENSE00002378296 000 1 207140883 207141052 - 45 69 56 NA NA NA NA NA AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGGTTTTTTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 NA NA NA NA NA NA CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT natural NA NA NA NA NA 1367 2675 0.7839666 0.7785769 0.7812718 NA NA 0.7839666 0.7785769 NA NA 0 0 NA 0.7812718 NA 0 NA FALSE NA NA NA NA NA NA FCAMR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCAMR NA NA NA ENSG00000162897 ENSE00003661573 NA NA NA NA NA NA NA 8.003434e-06 FALSE NA ENSE00002378296_002 ENSE00002378296 002 1 207140883 207141052 - 45 69 56 C T 207140902 4959 151 AGGAGAATGAAGGAATCTGTAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGGTTTTTTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967556 206967557 206967557 downstr_intron 26 1.590909 CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTACAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 246 348 0.9884086 0.9814413 0.984925 NA NA 0.7839666 0.7785769 NA NA 0.204442 0.2028643 NA 0.7812718 NA 0.2036532 NA FALSE NA 0 -2.063 . intron_variant MODIFIER FCAMR HGNC 24692 ENST00000324852 2/7 rs370587471 1 NA T:0.0006 T:0 GCA C,T 8.304e-06 1:206967557 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 intron_variant -0.043249 0.05818 0.01308 0.108992 0.6389913 0.0817324 8.003434e-06 FALSE NA ENSE00002378296_003 ENSE00002378296 003 1 207140883 207141052 - 45 69 56 T C 207140912 4960 141 AGGAGAATGAAGGAATCTGCAAGGGGTTGCTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGGTTTTTTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967566 206967567 206967567 downstr_intron 16 1.363636 CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAGCAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 412 226 0.9685943 0.9524047 0.9604995 NA NA 0.7839666 0.7785769 NA NA 0.1846277 0.1738278 NA 0.7812718 NA 0.1792277 NA FALSE NA 0 -0.365 . intron_variant MODIFIER FCAMR HGNC 24692 ENST00000324852 2/7 1 NA GTT T,C 8.304e-06 1:206967567 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 intron_variant -0.385945 0.1227 0.09376 0.108992 0.4048217 0.0817324 8.003434e-06 FALSE 4.11113e-06 ENSE00002378296_004 ENSE00002378296 004 1 207140883 207141052 - 45 69 56 C T 207140920 4961 133 AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACATAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGGTTTTTTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967574 206967575 206967575 downstr_intron 8 1.181818 CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTATGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 110 638 0.9744186 0.9968986 0.9856586 NA NA 0.7839666 0.7785769 NA NA 0.190452 0.2183217 NA 0.7812718 NA 0.2043869 NA FALSE NA 0 -1.154 . splice_region_variant&intron_variant LOW FCAMR HGNC 24692 ENST00000324852 2/7 1 NA ACA C,T 0.0002657 1:206967575 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 splice_region_variant 0.242966 0.1164 0.08698 0.108992 0.4509569 0.0825254 8.003434e-06 FALSE 0.000242537 ENSE00002378296_012 ENSE00002378296 012 1 207140883 207141052 - 45 69 56 G A 207140950 4969 103 AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAACAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGGTTTTTTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967604 206967605 206967605 exon -23 0.6811594 CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGTTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 128 698 0.9867466 0.9693841 0.9780654 NA NA 0.7839666 0.7785769 NA NA 0.20278 0.1908072 NA 0.7812718 NA 0.1967936 NA FALSE NA 0 0.044 . missense_variant MODERATE FCAMR HGNC 24692 ENST00000324852 2/8 1 tolerated_low_confidence(0.26) possibly_damaging(0.708) NA AGC G,A 8.304e-06 1:206967605 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 missense_variant 1.540248 0.11184 0.06642 0.487112 0.8757383 0 8.003434e-06 FALSE NA ENSE00002378296_014 ENSE00002378296 014 1 207140883 207141052 - 45 69 56 G A 207141011 4971 42 AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGAGAATTGGTTTTTTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967665 206967666 206967666 upstr_intron -15 -0.25 CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCTCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 113 549 1 0.997964 0.998982 NA NA 0.7839666 0.7785769 NA NA 0.2160334 0.2193871 NA 0.7812718 NA 0.2177102 NA FALSE NA 0 -0.215 . intron_variant MODIFIER FCAMR HGNC 24692 ENST00000324852 1/7 1 NA GGG G,A 8.307e-06 1:206967666 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 intron_variant 0.060542 0.12505 0.07943 0.235255 0.4041887 0.135877 8.003434e-06 FALSE 8.22605e-06 ENSE00002378296_015 ENSE00002378296 015 1 207140883 207141052 - 45 69 56 A G 207141013 4972 40 AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGGATTGGTTTTTTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967667 206967668 206967668 upstr_intron -17 -0.2857143 CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATCCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 34 157 1 0.986026 0.993013 NA NA 0.7839666 0.7785769 NA NA 0.2160334 0.2074491 NA 0.7812718 NA 0.2117413 NA FALSE NA 0 0.836 . intron_variant MODIFIER FCAMR HGNC 24692 ENST00000324852 1/7 rs200930298 1 G:0.0006 G:0 G:0.0043 NA G:0 G:0 G:0 GAA A,G 2.492e-05 1:206967668 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 intron_variant -0.297206 0.12095 0.10498 0.235255 0.4335782 0.083695 8.003434e-06 FALSE 2.05717e-05 ENSE00002378296_016 ENSE00002378296 016 1 207140883 207141052 - 45 69 56 G A 207141018 4973 35 AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGATTTTTTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967672 206967673 206967673 upstr_intron -22 -0.375 CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAATCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 1917 777 0.900585 0.843201 0.871893 NA NA 0.7839666 0.7785769 NA NA 0.1166184 0.06462407 NA 0.7812718 NA 0.09062123 NA FALSE NA 0 -1.785 rs76276228 intron_variant MODIFIER FCAMR HGNC 24692 ENST00000324852 1/7 rs76276228 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 GGT G,A 9.138e-05 1:206967673 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 intron_variant -0.049509 0.08872 0.02105 0.235255 0.421592 0.157003 8.003434e-06 FALSE 4.52746e-05 ENSE00002378296_018 ENSE00002378296 018 1 207140883 207141052 - 45 69 56 T A 207141022 4975 31 AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGGTTTATTCAAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967676 206967677 206967677 upstr_intron -26 -0.4464286 CTAACAGTGAAACAGAAATCTTCCCTTGAATAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 273 184 1 0.9893028 0.9946514 NA NA 0.7839666 0.7785769 NA NA 0.2160334 0.2107258 NA 0.7812718 NA 0.2133796 NA FALSE NA 0 -0.023 NA NA NA FCAMR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:206967677 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 intron_variant -0.081861 0.12996 0.11372 0.235255 0.6866429 0.160805 8.003434e-06 FALSE 8.23045e-06 ENSE00002378296_019 ENSE00002378296 019 1 207140883 207141052 - 45 69 56 A G 207141026 4976 27 AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGGTTTTTTCGAGGGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967680 206967681 206967681 upstr_intron -30 -0.5178571 CTAACAGTGAAACAGAAATCTTCCCTCGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 284 86 0.9813902 0.9916155 0.9865028 NA NA 0.7839666 0.7785769 NA NA 0.1974236 0.2130385 NA 0.7812718 NA 0.2052311 NA FALSE NA 0 -1.424 . intron_variant MODIFIER FCAMR HGNC 24692 ENST00000324852 1/7 rs200459551 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAA A,G 8.308e-06 1:206967681 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 intron_variant -0.296046 0.07111 0.0356 0.235255 0.5050774 0.135669 8.003434e-06 FALSE 4.11913e-06 ENSE00002378296_020 ENSE00002378296 020 1 207140883 207141052 - 45 69 56 G A 207141029 4977 24 AGGAGAATGAAGGAATCTGCAAGGGGTTGTTGTTACACAACTTACGTGAGATTGTGGTAAAGTGCCAGCAATGAGCCTGGAGTAGTCCACTTCTCTTCCTCTCCTCACCACTTCCTGTTTGCAGAAGGGGAATTGGTTTTTTCAAGAGAAGATTTCTGTTTCACTGTTAG 206967537 206967707 206967683 206967684 206967684 upstr_intron -33 -0.5714286 CTAACAGTGAAACAGAAATCTTCTCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT CTAACAGTGAAACAGAAATCTTCCCTTGAAAAAACCAATTCCCCTTCTGCAAACAGGAAGTGGTGAGGAGAGGAAGAGAAGTGGACTACTCCAGGCTCATTGCTGGCACTTTACCACAATCTCACGTAAGTTGTGTAACAACAACCCCTTGCAGATTCCTTCATTCTCCT mutant NA NA NA NA NA 97 1249 0.9934571 0.9969223 0.9951897 NA NA 0.7839666 0.7785769 NA NA 0.2094905 0.2183454 NA 0.7812718 NA 0.2139179 NA FALSE NA 0.001 0.631 . intron_variant MODIFIER FCAMR HGNC 24692 ENST00000324852 1/7 1 NA GGG G,A 8.307e-06 1:206967684 FCAMR HGNC Symbol protein_coding 12660 ENSG00000162897 ENSE00003661573 intron_variant 0.210892 0.14992 0.15704 0.235255 0.4118412 0.13382 8.003434e-06 FALSE 4.12225e-06 ENSE00002378369_000 ENSE00002378369 000 3 131418709 131418878 - 44 72 54 NA NA NA NA NA AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 NA NA NA NA NA NA AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC natural 23 21 0.9977818 0.9997476 0.9987647 3074 2741 0.9797893 0.9793429 0.9795661 0.9977818 0.9997476 0.9797893 0.9793429 0 0 0 0 0.9987647 0.9795661 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003556691 NA NA NA NA NA NA NA 0.7751393 FALSE NA ENSE00002378369_002 ENSE00002378369 002 3 131418709 131418878 - 44 72 54 C T 131418719 3030 160 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTAAGTGGAGAGC 131699864 131700034 131699874 131699875 131699875 downstr_intron 34 1.790698 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTAAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC mutant NA NA NA NA NA 226 1733 0.9993213 1 0.9996606 0.9977818 0.9997476 0.9797893 0.9793429 NA NA 0.01953199 0.02065708 0.9987647 0.9795661 NA 0.02009454 NA FALSE NA 0 -1.383 NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:131699875 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003556691 intron_variant -0.018083 0.12985 0.00152 0.080754 0.4805394 0.0952795 0.7751393 FALSE 4.14027e-06 ENSE00002378369_005 ENSE00002378369 005 3 131418709 131418878 - 44 72 54 T C 131418746 3033 133 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCGGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 131699901 131699902 131699902 downstr_intron 7 1.162791 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCGGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC mutant NA NA NA NA NA 285 210 0.9994619 0.989984 0.994723 0.9977818 0.9997476 0.9797893 0.9793429 NA NA 0.01967262 0.0106411 0.9987647 0.9795661 NA 0.01515686 NA FALSE NA 0.123 -0.653 . splice_region_variant&intron_variant LOW CPNE4 HGNC 2317 ENST00000502818 5/16 1 NA CTG T,C 8.237e-06 3:131699902 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003556691 splice_region_variant -0.608696 0.13347 0.00795 0.080754 0.4768606 0.106656 0.7751393 FALSE 8.14963e-06 ENSE00002378369_006 ENSE00002378369 006 3 131418709 131418878 - 44 72 54 C T 131418753 3034 126 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACAGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 131699908 131699909 131699909 exon -1 1 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACAGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC mutant NA NA NA NA NA 71 225 1 0.90148 0.95074 0.9977818 0.9997476 0.9797893 0.9793429 NA NA 0.02021074 -0.07786291 0.9987647 0.9795661 NA -0.02882609 NA FALSE NA 1 0.974 . splice_region_variant&synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 5/17 rs555262374 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 8.236e-06 3:131699909 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003556691 splice_region_variant 1.619829 0.97427 0.66455 0.594549 0.8979904 0 0.7751393 FALSE NA ENSE00002378369_009 ENSE00002378369 009 3 131418709 131418878 - 44 72 54 T C 131418765 3037 114 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAGTCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 131699920 131699921 131699921 exon -13 0.8333333 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAGTCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC mutant NA NA NA NA NA 100 408 1 0.9836024 0.9918012 0.9977818 0.9997476 0.9797893 0.9793429 NA NA 0.02021074 0.004259511 0.9987647 0.9795661 NA 0.01223512 NA FALSE NA 0.958 -0.122 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 5/17 1 NA ATT T,C 8.236e-06 3:131699921 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003556691 synonymous_variant 0.314565 0.8104 0.39208 0.538911 0.4581626 0 0.7751393 FALSE 4.07266e-06 ENSE00002378369_010 ENSE00002378369 010 3 131418709 131418878 - 44 72 54 T C 131418810 3038 69 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGGAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 131699965 131699966 131699966 exon 15 0.2083333 AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGGAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC mutant NA NA NA NA NA 165 1154 1 0.9980199 0.9990099 0.9977818 0.9997476 0.9797893 0.9793429 NA NA 0.02021074 0.01867696 0.9987647 0.9795661 NA 0.01944385 NA FALSE NA 0.998 0.432 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 5/17 1 NA TTC T,C 8.237e-06 3:131699966 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003556691 synonymous_variant 0.322126 0.92708 0.46236 0.538911 0.7197463 0 0.7751393 FALSE 4.081e-06 ENSE00002378369_011 ENSE00002378369 011 3 131418709 131418878 - 44 72 54 G T 131418845 3039 34 AGTTAAATGACTAGTATCTCTACCTTTTGTTACATTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 131700000 131700001 131700001 upstr_intron -21 -0.3703704 AGTTAAATGACTAGTATCTCTACCTTTTGTTACATTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC mutant NA NA NA NA NA 137 44 0.9856484 1 0.9928242 0.9977818 0.9997476 0.9797893 0.9793429 NA NA 0.005859173 0.02065708 0.9987647 0.9795661 NA 0.01325813 NA FALSE NA 0.822 1.993 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 4/16 1 NA AGG G,T 2.471e-05 3:131700001 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003556691 intron_variant -0.151873 0.28848 0.44986 0.053691 0.4566124 0.152832 0.7751393 FALSE 2.06769e-05 ENSE00002378369_012 ENSE00002378369 012 3 131418709 131418878 - 44 72 54 G A 131418846 3040 33 AGTTAAATGACTAGTATCTCTACCTTTTGTTATCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 131700001 131700002 131700002 upstr_intron -22 -0.3888889 AGTTAAATGACTAGTATCTCTACCTTTTGTTATCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC mutant NA NA NA NA NA 534 48 0.9961787 0.8 0.8980893 0.9977818 0.9997476 0.9797893 0.9793429 NA NA 0.01638941 -0.1793429 0.9987647 0.9795661 NA -0.08147676 NA FALSE NA 0.027 -0.1 NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:131700002 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003556691 intron_variant 0.052909 0.2069 0.09164 0.053691 0.4448318 0.152832 0.7751393 FALSE 8.28274e-06 ENSE00002378369_015 ENSE00002378369 015 3 131418709 131418878 - 44 72 54 G A 131418855 3043 24 AGTTAAATGACTAGTATCTCTACTTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 131700010 131700011 131700011 upstr_intron -31 -0.5555556 AGTTAAATGACTAGTATCTCTACTTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC mutant NA NA NA NA NA 130 79 1 1 1 0.9977818 0.9997476 0.9797893 0.9793429 NA NA 0.02021074 0.02065708 0.9987647 0.9795661 NA 0.02043391 NA FALSE NA 0 -1.71 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 4/16 1 NA AGG G,A 8.238e-06 3:131700011 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003556691 intron_variant 0.43292 0.1653 0.00881 0.053691 0.5404399 0.113039 0.7751393 FALSE 8.37626e-06 ENSE00002378369_BRK ENSE00002378369 BRK 3 131418709 131418878 - 44 72 54 A,G; T,T NA NA NA AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCTTATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGCCAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC 131699864 131700034 NA NA NA NA NA NA AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCTTATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGCCAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC AGTTAAATGACTAGTATCTCTACCTTTTGTTACCTTTTGTTTCCTTTTTTGCAGATTGTTTCCCAGAGAAAGCTGTCCAAATCCTTGCTGAAGCATGGGAACACAGCAGGGAAATCTTCCATCACGGTAAGCAGGCACTCCCTAAGCAGCTGTCTGCCTGAGTGGAGAGC control 62 243 0 0 0 NA NA NA NA NA 0.9977818 0.9997476 0.9797893 0.9793429 -0.9977818 -0.9997476 NA NA 0.9987647 0.9795661 -0.9987647 NA NA NA TRUE NA NA NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003556691 NA NA NA NA NA NA NA 0.7751393 FALSE NA ENSE00002378393_000 ENSE00002378393 000 11 61017347 61017516 + 41 99 30 NA NA NA NA NA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA 61249874 61250044 NA NA NA NA NA NA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA natural NA NA NA NA NA 1797 1690 0.8396994 0.9198611 0.8797802 NA NA 0.8396994 0.9198611 NA NA 0 0 NA 0.8797802 NA 0 NA FALSE NA NA NA NA NA NA PGA5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGA5 NA NA NA ENSG00000256713 ENSE00003674872 NA NA NA NA NA NA NA 0.00127358 FALSE NA ENSE00002378393_001 ENSE00002378393 001 11 61017347 61017516 + 41 99 30 C G 61017359 1429 13 ACGAAAACCCTTGTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA 61249874 61250044 61249886 61249887 61249887 upstr_intron -29 -0.6829268 ACGAAAACCCTTGTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA mutant 21 35 0.9491183 0.9603343 0.9547263 2086 152 0.9625735 0.9989581 0.9807658 NA NA 0.8396994 0.9198611 NA NA 0.1228741 0.07909703 NA 0.8797802 NA 0.1009856 NA FALSE NA 0.003 1.057 . intron_variant MODIFIER PGA5 HGNC 8887 ENST00000541528 1/2 1 NA TCT C,G 2.471e-05 11:61249887 PGA5 HGNC Symbol protein_coding 10406 ENSG00000256713 ENSE00003674872 intron_variant 0.119708 0.18811 0.11851 0.06567 0.6425285 0.0471925 0.00127358 FALSE 1.62635e-05 ENSE00002378393_003 ENSE00002378393 003 11 61017347 61017516 + 41 99 30 C T 61017372 1431 26 ACGAAAACCCTTCTAACTTTTCTCATCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA 61249874 61250044 61249899 61249900 61249900 upstr_intron -16 -0.3658537 ACGAAAACCCTTCTAACTTTTCTCATCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA mutant NA NA NA NA NA 159 349 1 1 1 NA NA 0.8396994 0.9198611 NA NA 0.1603006 0.08013893 NA 0.8797802 NA 0.1202198 NA FALSE NA 0 -0.075 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:61249900 PGA5 HGNC Symbol protein_coding 10406 ENSG00000256713 ENSE00003674872 intron_variant 0.238798 0.1197 0.02157 0.06567 0.7761682 0.0464541 0.00127358 FALSE 2.033e-05 ENSE00002378393_004 ENSE00002378393 004 11 61017347 61017516 + 41 99 30 C A 61017372 1432 26 TCTCTAGTGGATGGTCCAGAGCCTCCTCACCTGCAGGATGTAGGCACTGGGTGGCACGGGGTACTGGACTCCATTGATGGTGAAGACGATGTCGGGCAGGCTGCTGATGGCTGAGCAGCTGACCACCATCTGGAAAGAGTGAGGTTGAGAAAAGTTAGAAGGGTTTTCGT 61249874 61250044 61249899 61249900 61249900 upstr_intron -16 -0.3658537 ACGAAAACCCTTCTAACTTTTCTCAACCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA mutant NA NA NA NA NA 1306 305 0.9967436 0.9989615 0.9978526 NA NA 0.8396994 0.9198611 NA NA 0.1570442 0.07910045 NA 0.8797802 NA 0.1180723 NA FALSE NA 0 -0.075 NA NA NA PGA5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGA5 NA NA NA ENSG00000256713 ENSE00003674872 intron_variant 0.224305 0.16653 0.03025 0.06567 0.7800833 0.0464541 0.00127358 FALSE 2.8462e-05 ENSE00002378393_005 ENSE00002378393 005 11 61017347 61017516 + 41 99 30 T A 61017389 1433 43 TCTCTAGTGGATGGTCCAGAGCCTCCTCACCTGCAGGATGTAGGCACTGGGTGGCACGGGGTACTGGACTCCATTGATGGTGAAGACGATGTCGGGCAGGCTGCTGATGGCTGAGCAGCTGACCACCTTCTGGAAAGAGTGAGGGTGAGAAAAGTTAGAAGGGTTTTCGT 61249874 61250044 61249916 61249917 61249917 exon 2 0.02020202 ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGAAGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA mutant NA NA NA NA NA 274 369 0.9998497 0.9990663 0.999458 NA NA 0.8396994 0.9198611 NA NA 0.1601503 0.07920528 NA 0.8797802 NA 0.1196778 NA FALSE NA 0 0.206 . missense_variant&splice_region_variant MODERATE PGA5 HGNC 8887 ENST00000541528 2/3 1 deleterious(0.01) benign(0.026) NA ATG T,A 8.237e-06 11:61249917 PGA5 HGNC Symbol protein_coding 10406 ENSG00000256713 ENSE00003674872 missense_variant 1.681261 0.05635 0.00202 0.554377 0.9068119 0 0.00127358 FALSE 8.13405e-06 ENSE00002378393_007 ENSE00002378393 007 11 61017347 61017516 + 41 99 30 C T 61017411 1435 65 ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATTAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA 61249874 61250044 61249938 61249939 61249939 exon 24 0.2424242 ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATTAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA mutant NA NA NA NA NA 922 352 0.9992836 1 0.9996418 NA NA 0.8396994 0.9198611 NA NA 0.1595843 0.08013893 NA 0.8797802 NA 0.1198616 NA FALSE NA 0 -0.186 . synonymous_variant LOW PGA5 HGNC 8887 ENST00000541528 2/3 rs371436340 1 NA TCA C,T 8.238e-06 11:61249939 PGA5 HGNC Symbol protein_coding 10406 ENSG00000256713 ENSE00003674872 synonymous_variant 1.385133 0.61056 0.08543 0.554377 0.9424039 0 0.00127358 FALSE NA ENSE00002378393_008 ENSE00002378393 008 11 61017347 61017516 + 41 99 30 C A 61017484 1436 138 TCTCTAGTGGATGGTCCAGAGCCTCCTCACCTTCAGGATGTAGGCACTGGGTGGCACGGGGTACTGGACTCCATTGATGGTGAAGACGATGTCGGGCAGGCTGCTGATGGCTGAGCAGCTGACCACCATCTGGAAAGAGTGAGGGTGAGAAAAGTTAGAAGGGTTTTCGT 61249874 61250044 61250011 61250012 61250012 exon -3 0.979798 ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGAAGGTGAGGAGGCTCTGGACCATCCACTAGAGA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA mutant NA NA NA NA NA 25 347 1 1 1 NA NA 0.8396994 0.9198611 NA NA 0.1603006 0.08013893 NA 0.8797802 NA 0.1202198 NA FALSE NA 0 -1.748 . missense_variant&splice_region_variant MODERATE PGA5 HGNC 8887 ENST00000541528 2/3 1 tolerated(0.86) benign(0.003) NA GCA C,A 1.653e-05 11:61250012 PGA5 HGNC Symbol protein_coding 10406 ENSG00000256713 ENSE00003674872 missense_variant -1.535586 0.13469 0.01025 0.615465 0.8554015 0 0.00127358 FALSE NA ENSE00002378393_BRK ENSE00002378393 BRK 11 61017347 61017516 + 41 99 30 A,G; T,T NA NA NA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCTTATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGCCGAGGAGGCTCTGGACCATCCACTAGAGA 61249874 61250044 NA NA NA NA NA NA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCTTATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGCCGAGGAGGCTCTGGACCATCCACTAGAGA ACGAAAACCCTTCTAACTTTTCTCACCCTCACTCTTTCCAGATGGTGGTCAGCTGCTCAGCCATCAGCAGCCTGCCCGACATCGTCTTCACCATCAATGGAGTCCAGTACCCCGTGCCACCCAGTGCCTACATCCTGCAGGTGAGGAGGCTCTGGACCATCCACTAGAGA control NA NA NA NA NA 515 36 0.000582829 0 0.0002914145 NA NA 0.8396994 0.9198611 NA NA -0.8391165 -0.9198611 NA 0.8797802 NA -0.8794888 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PGA5 NA NA NA ENSG00000256713 ENSE00003674872 NA NA NA NA NA NA NA 0.00127358 FALSE NA ENSE00002378553_000 ENSE00002378553 000 1 155746150 155746319 - 36 87 47 NA NA NA NA NA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 NA NA NA NA NA NA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA natural NA NA NA NA NA 5306 5198 0.8910604 0.9309195 0.91099 NA NA 0.8910604 0.9309195 NA NA 0 0 NA 0.91099 NA 0 NA FALSE NA NA NA NA NA NA GON4L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GON4L NA NA NA ENSG00000116580 ENSE00003591953 NA NA NA NA NA NA NA 0.9999989 TRUE NA ENSE00002378553_001 ENSE00002378553 001 1 155746150 155746319 - 36 87 47 T G 155746164 3678 156 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATACCTCTAAAGACTAGA 155776358 155776528 155776372 155776373 155776373 downstr_intron 22 1.628571 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATACCTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 1757 1034 0.9967617 0.994281 0.9955214 NA NA 0.8910604 0.9309195 NA NA 0.1057013 0.06336151 NA 0.91099 NA 0.08453139 NA FALSE NA 0 0.164 . intron_variant MODIFIER GON4L HGNC 25973 ENST00000437809 16/31 rs200969132 1 G:0.0008 G:0.0015 G:0.0029 NA G:0 G:0 G:0 G:0.0023 G:0 GTT T,G 0.000173 1:155776373 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 intron_variant 0.952063 0.15382 0.02422 0.295142 0.7358986 0.0553276 0.9999989 TRUE 0.000117804 ENSE00002378553_002 ENSE00002378553 002 1 155746150 155746319 - 36 87 47 T C 155746167 3679 153 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCGTAACTCTAAAGACTAGA 155776358 155776528 155776375 155776376 155776376 downstr_intron 19 1.542857 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCGTAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 236 1019 0.9946452 0.9896614 0.9921533 NA NA 0.8910604 0.9309195 NA NA 0.1035848 0.05874188 NA 0.91099 NA 0.08116333 NA FALSE NA 0.001 -0.018 . intron_variant MODIFIER GON4L HGNC 25973 ENST00000437809 16/31 1 NA ATG C,C 1.647e-05 1:155776376 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 intron_variant 0.19763 0.18079 0.03019 0.295142 0.6798467 0.0553276 0.9999989 TRUE 1.62468e-05 ENSE00002378553_004 ENSE00002378553 004 1 155746150 155746319 - 36 87 47 C G 155746195 3681 125 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGCATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776403 155776404 155776404 exon -10 0.8965517 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGCATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 172 189 0.9822295 0.9888066 0.9855181 NA NA 0.8910604 0.9309195 NA NA 0.09116911 0.05788707 NA 0.91099 NA 0.07452809 NA FALSE NA 0.709 0.441 . missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 rs532255775 1 deleterious(0.02) possibly_damaging(0.54) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 TCC C,G 8.236e-06 1:155776404 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant 5.098494 0.47456 0.58448 0.706548 0.9851902 0 0.9999989 TRUE 4.06151e-06 ENSE00002378553_005 ENSE00002378553 005 1 155746150 155746319 - 36 87 47 G A 155746201 3682 119 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACTACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776409 155776410 155776410 exon -16 0.8275862 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACTACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 1214 1453 0.9920282 0.9897704 0.9908993 NA NA 0.8910604 0.9309195 NA NA 0.1009678 0.05885091 NA 0.91099 NA 0.07990935 NA FALSE NA 1 0.618 . synonymous_variant LOW GON4L HGNC 25973 ENST00000437809 16/32 1 NA TGG G,A 1.647e-05 1:155776410 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 synonymous_variant 0.874351 0.94172 0.80495 0.706548 0.6373972 0 0.9999989 TRUE 8.12236e-06 ENSE00002378553_006 ENSE00002378553 006 1 155746150 155746319 - 36 87 47 T C 155746203 3683 117 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTGCCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776411 155776412 155776412 exon -18 0.8045977 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTGCCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 537 392 0.9361678 0.7893938 0.8627808 NA NA 0.8910604 0.9309195 NA NA 0.04510738 -0.1415257 NA 0.91099 NA -0.04820918 NA FALSE NA 0.998 4.234 . missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 1 deleterious(0.03) benign(0.207) NA GTA T,C 8.236e-06 1:155776412 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant 1.832803 0.95678 0.97344 0.706548 0.9972926 0 0.9999989 TRUE 4.06105e-06 ENSE00002378553_007 ENSE00002378553 007 1 155746150 155746319 - 36 87 47 G A 155746205 3684 115 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCATTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776413 155776414 155776414 exon -20 0.7816092 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCATTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant 14 18 0.85 0.85 0.85 1005 885 0.9417093 0.9725128 0.957111 NA NA 0.8910604 0.9309195 NA NA 0.05064892 0.04159324 NA 0.91099 NA 0.04612108 NA FALSE NA 0.034 0.005 . missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 1 deleterious(0.02) benign(0.049) NA AGT G,A 8.236e-06 1:155776414 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant 2.010507 0.84056 0.22363 0.706548 0.9845283 0 0.9999989 TRUE 4.06108e-06 ENSE00002378553_008 ENSE00002378553 008 1 155746150 155746319 - 36 87 47 C T 155746213 3685 107 TCTAGTCTTTAGAGTTATGGATATTTGGAAACTTACAAGAAATATCCTGGTGGTAGTGGCCTCTGGATTGAGGTTGGGGTTGCAGGTGGCAAGAAGGTGGATTTGGGTCAAGAGCTGAACGTGCTGGGGATGGAAAGAAAATGATGAAGTGACATGTTACCACATTGTCA 155776358 155776528 155776421 155776422 155776422 exon -28 0.6896552 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCAGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 1339 705 0.7630261 0.679228 0.721127 NA NA 0.8910604 0.9309195 NA NA -0.1280343 -0.2516916 NA 0.91099 NA -0.1898629 NA FALSE NA 0.001 -2.305 . synonymous_variant LOW GON4L HGNC 25973 ENST00000437809 16/32 1 NA CCG C,T 8.236e-06 1:155776422 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 synonymous_variant 0.999904 0.18343 0.06533 0.706548 0.4230721 0 0.9999989 TRUE 8.12308e-06 ENSE00002378553_009 ENSE00002378553 009 1 155746150 155746319 - 36 87 47 G A 155746214 3686 106 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCTGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776422 155776423 155776423 exon -29 0.6781609 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCTGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 471 551 0.9092671 0.9236798 0.9164734 NA NA 0.8910604 0.9309195 NA NA 0.01820669 -0.007239724 NA 0.91099 NA 0.005483482 NA FALSE NA 0.944 1.749 rs140447805 missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 rs140447805 1 deleterious(0.05) benign(0.018) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0003 CGG G,A 0.0002059 1:155776423 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant 2.185226 0.32991 0.69744 0.706548 0.9330058 0 0.9999989 TRUE 0.000186814 ENSE00002378553_010 ENSE00002378553 010 1 155746150 155746319 - 36 87 47 G A 155746215 3687 105 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATTCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776423 155776424 155776424 exon -30 0.6666667 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATTCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 38 779 0.95 0.8035585 0.8767793 NA NA 0.8910604 0.9309195 NA NA 0.05893961 -0.127361 NA 0.91099 NA -0.03421069 NA FALSE NA 0.957 2.918 rs145254921 missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 rs145254921 1 tolerated(1) benign(0) NA A:0 A:0.0001 GGA G,A 8.236e-06 1:155776424 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant -1.730667 0.21889 0.0624 0.706548 0.08325119 0 0.9999989 TRUE 4.06105e-06 ENSE00002378553_011 ENSE00002378553 011 1 155746150 155746319 - 36 87 47 T G 155746229 3688 91 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCACCCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776437 155776438 155776438 exon -44 0.5057471 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCACCCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant 47 104 0.85 0.85 0.85 694 1036 0.9311897 0.9412833 0.9362365 NA NA 0.8910604 0.9309195 NA NA 0.04012933 0.01036378 NA 0.91099 NA 0.02524655 NA FALSE NA 1 4.312 rs181638451 missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 rs181638451 1 deleterious(0.03) probably_damaging(0.944) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GTT T,G 0.001458 1:155776438 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant 4.684295 0.96295 0.96494 0.706548 0.9956084 0 0.9999989 TRUE 0.00160003 ENSE00002378553_012 ENSE00002378553 012 1 155746150 155746319 - 36 87 47 G C 155746242 3689 78 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTGTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776450 155776451 155776451 exon 31 0.3563218 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTGTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 1624 214 0.9917762 1 0.9958881 NA NA 0.8910604 0.9309195 NA NA 0.1007158 0.06908047 NA 0.91099 NA 0.08489816 NA FALSE NA 1 4.406 . missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 1 deleterious(0.01) benign(0.28) NA AGA G,C 8.236e-06 1:155776451 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant 3.653172 0.94567 0.95488 0.706548 0.9986717 0 0.9999989 TRUE 4.06072e-06 ENSE00002378553_013 ENSE00002378553 013 1 155746150 155746319 - 36 87 47 G C 155746245 3690 75 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACGTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776453 155776454 155776454 exon 28 0.3218391 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACGTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 1271 1185 0.9290929 0.9984026 0.9637477 NA NA 0.8910604 0.9309195 NA NA 0.03803249 0.06748305 NA 0.91099 NA 0.05275777 NA FALSE NA 1 5.27 rs146504521 missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 rs146504521 1 tolerated(0.07) probably_damaging(0.979) C:0.0012 C:0 C:0.0014 NA C:0 C:0.004 C:0.001 C:0 C:0.0042 AGG G,C 0.004019 1:155776454 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant 4.325295 0.97093 0.97131 0.706548 0.9979247 0 0.9999989 TRUE 0.00393093 ENSE00002378553_014 ENSE00002378553 014 1 155746150 155746319 - 36 87 47 G C 155746255 3691 65 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACGCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776463 155776464 155776464 exon 18 0.2068966 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACGCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 423 1200 0.9874413 0.8767613 0.9321013 NA NA 0.8910604 0.9309195 NA NA 0.09638094 -0.05415819 NA 0.91099 NA 0.02111138 NA FALSE NA 0.25 -0.58 . synonymous_variant LOW GON4L HGNC 25973 ENST00000437809 16/32 1 NA GGG G,C 1.647e-05 1:155776464 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 synonymous_variant 0.842217 0.4873 0.133 0.706548 0.674729 0 0.9999989 TRUE 1.62433e-05 ENSE00002378553_015 ENSE00002378553 015 1 155746150 155746319 - 36 87 47 C T 155746258 3692 62 TCTAGTCTTTAGAGTTATGGATATTTGGAAACTTACAAGAAATATCCTGGTGGTAGTGGCCTCCGGATTGAGGTTGGGGTTGCAGGTGGCAAGAAGGTGGATTTGGGTTAAGAGCTGAACGTGCTGGGGATGGAAAGAAAATGATGAAGTGACATGTTACCACATTGTCA 155776358 155776528 155776466 155776467 155776467 exon 15 0.1724138 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTAACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 184 177 0.9156543 0.8609983 0.8883263 NA NA 0.8910604 0.9309195 NA NA 0.0245939 -0.06992118 NA 0.91099 NA -0.02266364 NA FALSE NA 1 4.123 . synonymous_variant LOW GON4L HGNC 25973 ENST00000437809 16/32 1 NA TCA C,T 8.236e-06 1:155776467 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 synonymous_variant 1.940559 0.96889 0.95411 0.706548 0.9199316 0 0.9999989 TRUE 4.06111e-06 ENSE00002378553_016 ENSE00002378553 016 1 155746150 155746319 - 36 87 47 G A 155746261 3693 59 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTTTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776469 155776470 155776470 exon 12 0.137931 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTTTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 2308 796 0.9928507 0.9995135 0.9961821 NA NA 0.8910604 0.9309195 NA NA 0.1017903 0.06859393 NA 0.91099 NA 0.0851921 NA FALSE NA 1 0.568 . synonymous_variant LOW GON4L HGNC 25973 ENST00000437809 16/32 1 NA AGA G,A 8.236e-06 1:155776470 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 synonymous_variant 1.443907 0.91535 0.77905 0.706548 0.8408116 0 0.9999989 TRUE 1.2183e-05 ENSE00002378553_017 ENSE00002378553 017 1 155746150 155746319 - 36 87 47 G A 155746263 3694 57 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGTTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776471 155776472 155776472 exon 10 0.1149425 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGTTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant 49 135 0.8387321 0.85 0.8443661 23 549 0.8748278 0.9535292 0.9141785 NA NA 0.8910604 0.9309195 NA NA -0.01623261 0.02260965 NA 0.91099 NA 0.00318852 NA FALSE NA 1 7.219 . missense_variant MODERATE GON4L HGNC 25973 ENST00000437809 16/32 1 deleterious(0) probably_damaging(0.994) NA AGC G,A 8.236e-06 1:155776472 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 missense_variant 6.391609 0.9696 0.9793 0.706548 0.9989984 0 0.9999989 TRUE 4.06101e-06 ENSE00002378553_018 ENSE00002378553 018 1 155746150 155746319 - 36 87 47 G A 155746270 3695 50 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCATGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776478 155776479 155776479 exon 3 0.03448276 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCATGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 279 463 1 0.9654194 0.9827097 NA NA 0.8910604 0.9309195 NA NA 0.1089396 0.03449984 NA 0.91099 NA 0.07171973 NA FALSE NA 0.998 0.499 rs191702841 splice_region_variant&synonymous_variant LOW GON4L HGNC 25973 ENST00000437809 16/32 rs191702841 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGT G,A 3.295e-05 1:155776479 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 splice_region_variant 1.50415 0.87569 0.15938 0.706548 0.8411685 0 0.9999989 TRUE 6.49799e-05 ENSE00002378553_019 ENSE00002378553 019 1 155746150 155746319 - 36 87 47 G C 155746275 3696 45 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCGAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776483 155776484 155776484 upstr_intron -3 -0.04255319 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCGAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant 75 255 0.0515887 0.08202539 0.06680705 NA NA NA NA NA NA NA 0.8910604 0.9309195 NA NA NA NA NA 0.91099 NA NA NA NA NA 0.996 1.767 . splice_region_variant&intron_variant LOW GON4L HGNC 25973 ENST00000437809 15/31 1 NA TGG G,C 8.236e-06 1:155776484 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 splice_region_variant 1.575767 0.93098 0.92376 0.099367 0.8239272 0.812825 0.9999989 TRUE 4.06128e-06 ENSE00002378553_020 ENSE00002378553 020 1 155746150 155746319 - 36 87 47 G T 155746276 3697 44 TCTAGTCTTTAGAGTTATGGATATTTGGAAACTTACAAGAAATATCCTGGTGGTAGTGGCCTCCGGATTGAGGTTGGGGTTGCAGGTGGCAAGAAGGTGGATTTGGGTCAAGAGCTGAACGTGCTGTGGATGGAAAGAAAATGATGAAGTGACATGTTACCACATTGTCA 155776358 155776528 155776484 155776485 155776485 upstr_intron -4 -0.06382979 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCACAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 409 1477 1 0.9142206 0.9571103 NA NA 0.8910604 0.9309195 NA NA 0.1089396 -0.01669893 NA 0.91099 NA 0.04612034 NA FALSE NA 0.916 0.886 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:155776485 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 splice_region_variant 0.313992 0.44298 0.74518 0.099367 0.7475704 0.119318 0.9999989 TRUE 2.03065e-05 ENSE00002378553_021 ENSE00002378553 021 1 155746150 155746319 - 36 87 47 G A 155746276 3698 44 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCTCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776484 155776485 155776485 upstr_intron -4 -0.06382979 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCTCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 250 384 0.9420705 0.9909081 0.9664893 NA NA 0.8910604 0.9309195 NA NA 0.0510101 0.05998861 NA 0.91099 NA 0.05549936 NA FALSE NA 0.916 0.886 NA NA NA GON4L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GON4L NA NA NA ENSG00000116580 ENSE00003591953 splice_region_variant 0.452625 0.42031 0.50105 0.099367 0.6780097 0.119318 0.9999989 TRUE 2.84292e-05 ENSE00002378553_022 ENSE00002378553 022 1 155746150 155746319 - 36 87 47 A G 155746283 3699 37 TCTAGTCTTTAGAGTTATGGATATTTGGAAACTTACAAGAAATATCCTGGTGGTAGTGGCCTCCGGATTGAGGTTGGGGTTGCAGGTGGCAAGAAGGTGGATTTGGGTCAAGAGCTGAACGTGCTGGGGATGGGAAGAAAATGATGAAGTGACATGTTACCACATTGTCA 155776358 155776528 155776491 155776492 155776492 upstr_intron -11 -0.212766 TGACAATGTGGTAACATGTCACTTCATCATTTTCTTCCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant 115 261 0.8452189 0.85 0.8476095 611 528 0.8435762 0.8216419 0.832609 NA NA 0.8910604 0.9309195 NA NA -0.04748419 -0.1092776 NA 0.91099 NA -0.07838092 NA FALSE NA 0.405 1.09 . intron_variant MODIFIER GON4L HGNC 25973 ENST00000437809 15/31 1 NA GAA A,G 8.236e-06 1:155776492 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 intron_variant 0.689099 0.41148 0.54504 0.099367 0.6962143 0.0606938 0.9999989 TRUE NA ENSE00002378553_023 ENSE00002378553 023 1 155746150 155746319 - 36 87 47 A G 155746285 3700 35 TCTAGTCTTTAGAGTTATGGATATTTGGAAACTTACAAGAAATATCCTGGTGGTAGTGGCCTCCGGATTGAGGTTGGGGTTGCAGGTGGCAAGAAGGTGGATTTGGGTCAAGAGCTGAACGTGCTGGGGATGGAAGGAAAATGATGAAGTGACATGTTACCACATTGTCA 155776358 155776528 155776493 155776494 155776494 upstr_intron -13 -0.2553191 TGACAATGTGGTAACATGTCACTTCATCATTTTCCTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant 26 58 0.85 0.85 0.85 1437 211 0.9015664 0.844492 0.8730292 NA NA 0.8910604 0.9309195 NA NA 0.01050596 -0.08642754 NA 0.91099 NA -0.03796079 NA FALSE NA 0.994 2.248 . intron_variant MODIFIER GON4L HGNC 25973 ENST00000437809 15/31 1 NA AAG A,G 8.236e-06 1:155776494 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 intron_variant 0.615349 0.90613 0.55927 0.099367 0.833412 0.0779403 0.9999989 TRUE 8.12513e-06 ENSE00002378553_025 ENSE00002378553 025 1 155746150 155746319 - 36 87 47 T A 155746294 3702 26 TGACAATGTGGTAACATGTCACTTCTTCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776502 155776503 155776503 upstr_intron -22 -0.4468085 TGACAATGTGGTAACATGTCACTTCTTCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant NA NA NA NA NA 2473 766 0.9641024 0.9989663 0.9815343 NA NA 0.8910604 0.9309195 NA NA 0.07304199 0.06804674 NA 0.91099 NA 0.07054436 NA FALSE NA 0 -1.435 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:155776503 GON4L HGNC Symbol protein_coding 109738 ENSG00000116580 ENSE00003591953 intron_variant 0.171939 0.21599 0.02654 0.099367 0.453095 0.0647991 0.9999989 TRUE 4.06365e-06 ENSE00002378553_026 ENSE00002378553 026 1 155746150 155746319 - 36 87 47 T C 155746294 3703 26 TGACAATGTGGTAACATGTCACTTCGTCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 155776502 155776503 155776503 upstr_intron -22 -0.4468085 TGACAATGTGGTAACATGTCACTTCGTCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA mutant 61 105 0.9233605 0.85 0.8866802 1031 801 0.974732 0.9792045 0.9769682 NA NA 0.8910604 0.9309195 NA NA 0.08367159 0.04828495 NA 0.91099 NA 0.06597827 NA FALSE NA 0 -1.435 NA NA NA GON4L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GON4L NA NA NA ENSG00000116580 ENSE00003591953 intron_variant -0.217857 0.2255 0.03034 0.099367 0.3963905 0.0647991 0.9999989 TRUE 8.12731e-06 ENSE00002378553_BRK ENSE00002378553 BRK 1 155746150 155746319 - 36 87 47 A,G; T,T NA NA NA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCTTCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTCCAAGTTTCCAAATATCCATAACTCTAAAGACTAGA 155776358 155776528 NA NA NA NA NA NA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCTTCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTCCAAGTTTCCAAATATCCATAACTCTAAAGACTAGA TGACAATGTGGTAACATGTCACTTCATCATTTTCTTTCCATCCCCAGCACGTTCAGCTCTTGACCCAAATCCACCTTCTTGCCACCTGCAACCCCAACCTCAATCCGGAGGCCACTACCACCAGGATATTTCTTGTAAGTTTCCAAATATCCATAACTCTAAAGACTAGA control 21 47 0 0 0 114 351 0.04612376 0 0.02306188 NA NA 0.8910604 0.9309195 NA NA -0.8449366 -0.9309195 NA 0.91099 NA -0.8879281 NA TRUE NA NA NA NA NA NA GON4L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GON4L NA NA NA ENSG00000116580 ENSE00003591953 NA NA NA NA NA NA NA 0.9999989 TRUE NA ENSE00002378702_000 ENSE00002378702 000 5 176048180 176048349 - 35 90 45 NA NA NA NA NA TCCCAAAGTCCCGCCCAGCCCTGCTGCCCCCTCACCTGGGGTGGGTCCTCATAACTCTCCCCTTCTGGCTCCATCAGGGGCTCAATCAGTGGTTCTTCAGCAGCTTCCTGGGCCACTTCCTCTGGCTGTGGGCAGAAAAGGTCAGGACTCGTGAGGACAGCCAGGATGCC 176621178 176621348 NA NA NA NA NA NA GGCATCCTGGCTGTCCTCACGAGTCCTGACCTTTTCTGCCCACAGCCAGAGGAAGTGGCCCAGGAAGCTGCTGAAGAACCACTGATTGAGCCCCTGATGGAGCCAGAAGGGGAGAGTTATGAGGACCCACCCCAGGTGAGGGGGCAGCAGGGCTGGGCGGGACTTTGGGA GGCATCCTGGCTGTCCTCACGAGTCCTGACCTTTTCTGCCCACAGCCAGAGGAAGTGGCCCAGGAAGCTGCTGAAGAACCACTGATTGAGCCCCTGATGGAGCCAGAAGGGGAGAGTTATGAGGACCCACCCCAGGTGAGGGGGCAGCAGGGCTGGGCGGGACTTTGGGA natural 43 16 0.9845187 1 0.9922593 70 196 1 0.9877796 0.9938898 0.9845187 1 1 0.9877796 0 0 0 0 0.9922593 0.9938898 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNCB NA NA NA ENSG00000074317 ENSE00003602811 NA NA NA NA NA NA NA 0.1981965 FALSE NA ENSE00002378702_003 ENSE00002378702 003 5 176048180 176048349 - 35 90 45 G A 176048192 2359 158 TCCCAAAGTCCCACCCAGCCCTGCTGCCCCCTCACCTGGGGTGGGTCCTCATAACTCTCCCCTTCTGGCTCCATCAGGGGCTCAATCAGTGGTTCTTCAGCAGCTTCCTGGGCCACTTCCTCTGGCTGTGGGCAGAAAAGGTCAGGACTCGTGAGGACAGCCAGGATGCC 176621178 176621348 176621190 176621191 176621191 downstr_intron 23 1.676471 GGCATCCTGGCTGTCCTCACGAGTCCTGACCTTTTCTGCCCACAGCCAGAGGAAGTGGCCCAGGAAGCTGCTGAAGAACCACTGATTGAGCCCCTGATGGAGCCAGAAGGGGAGAGTTATGAGGACCCACCCCAGGTGAGGGGGCAGCAGGGCTGGGTGGGACTTTGGGA GGCATCCTGGCTGTCCTCACGAGTCCTGACCTTTTCTGCCCACAGCCAGAGGAAGTGGCCCAGGAAGCTGCTGAAGAACCACTGATTGAGCCCCTGATGGAGCCAGAAGGGGAGAGTTATGAGGACCCACCCCAGGTGAGGGGGCAGCAGGGCTGGGCGGGACTTTGGGA mutant NA NA NA NA NA 579 109 1 0.997157 0.9985785 0.9845187 1 1 0.9877796 NA NA 0 0.009377455 0.9922593 0.9938898 NA 0.004688727 NA FALSE NA 0 -0.813 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:176621191 SNCB HGNC Symbol protein_coding 10472 ENSG00000074317 ENSE00003602811 intron_variant -0.519875 0.14347 0.00169 0.11394 0.4193408 0.0710233 0.1981965 FALSE 0.000851603 ENSE00002378702_BRK ENSE00002378702 BRK 5 176048180 176048349 - 35 90 45 A,G; T,T NA NA NA TCCCAAAGTCCCGCCCAGCCCTGCTGCCCCCTCGGCTGGGGTGGGTCCTCATAACTCTCCCCTTCTGGCTCCATCAGGGGCTCAATCAGTGGTTCTTCAGCAGCTTCCTGGGCCACTTCCTCTGGAAGTGGGCAGAAAAGGTCAGGACTCGTGAGGACAGCCAGGATGCC 176621178 176621348 NA NA NA NA NA NA GGCATCCTGGCTGTCCTCACGAGTCCTGACCTTTTCTGCCCACTTCCAGAGGAAGTGGCCCAGGAAGCTGCTGAAGAACCACTGATTGAGCCCCTGATGGAGCCAGAAGGGGAGAGTTATGAGGACCCACCCCAGCCGAGGGGGCAGCAGGGCTGGGCGGGACTTTGGGA GGCATCCTGGCTGTCCTCACGAGTCCTGACCTTTTCTGCCCACAGCCAGAGGAAGTGGCCCAGGAAGCTGCTGAAGAACCACTGATTGAGCCCCTGATGGAGCCAGAAGGGGAGAGTTATGAGGACCCACCCCAGGTGAGGGGGCAGCAGGGCTGGGCGGGACTTTGGGA control NA NA NA NA NA 661 39 0 0 0 0.9845187 1 1 0.9877796 NA NA -1 -0.9877796 0.9922593 0.9938898 NA -0.9938898 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SNCB NA NA NA ENSG00000074317 ENSE00003602811 NA NA NA NA NA NA NA 0.1981965 FALSE NA ENSE00002378900_000 ENSE00002378900 000 17 40376762 40376931 - 35 90 45 NA NA NA NA NA CCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACT 42224743 42224913 NA NA NA NA NA NA AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG natural 18 17 0.991205 0.9972538 0.9942294 1493 979 0.9379016 0.994443 0.9661723 0.991205 0.9972538 0.9379016 0.994443 0 0 0 0 0.9942294 0.9661723 0 0 0 FALSE FALSE NA NA NA NA NA STAT5B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT5B NA NA NA ENSG00000173757 ENSE00003549969 NA NA NA NA NA NA NA 0.9999532 TRUE NA ENSE00002378900_003 ENSE00002378900 003 17 40376762 40376931 - 35 90 45 G A 40376788 1809 144 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTTCCATAGGGATGGGGAGGGCAGTCGGG 42224743 42224913 42224769 42224770 42224770 downstr_intron 9 1.264706 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTTCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 702 864 0.9974516 0.9851657 0.9913087 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.05954998 -0.00927723 0.9942294 0.9661723 NA 0.02513637 NA FALSE NA 0.26 1.377 . intron_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/8 rs536912143 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGA G,A 1.647e-05 17:42224770 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 intron_variant 0.627241 0.46348 0.34762 0.295142 0.5973278 0.0589605 0.9999532 TRUE 2.43732e-05 ENSE00002378900_004 ENSE00002378900 004 17 40376762 40376931 - 35 90 45 A G 40376797 1810 135 CCCGACTGCCCTCCCCATCCCTATGGGACACTCACGTTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACT 42224743 42224913 42224778 42224779 42224779 exon -1 1 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAACGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 76 471 1 1 1 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.06209838 0.00555703 0.9942294 0.9661723 NA 0.0338277 NA FALSE NA 0.055 -0.396 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW STAT5B HGNC 11367 ENST00000468312 4/9 rs555285694 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 8.236e-06 17:42224779 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 splice_region_variant 1.006483 0.96655 0.2087 0.706548 0.7331465 0 0.9999532 TRUE 4.06141e-06 ENSE00002378900_005 ENSE00002378900 005 17 40376762 40376931 - 35 90 45 C T 40376810 1811 122 CCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTTGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACT 42224743 42224913 42224791 42224792 42224792 exon -14 0.8555556 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCAAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 148 134 1 0.9974023 0.9987011 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.06209838 0.00295931 0.9942294 0.9661723 NA 0.03252884 NA FALSE NA 0.999 4.446 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/9 1 NA TCG C,T 1.647e-05 17:42224792 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 missense_variant 3.814018 0.98685 0.96666 0.732398 0.3166399 0 0.9999532 TRUE 8.12269e-06 ENSE00002378900_007 ENSE00002378900 007 17 40376762 40376931 - 35 90 45 A G 40376827 1813 105 CCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCGTTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACT 42224743 42224913 42224808 42224809 42224809 exon -31 0.6666667 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAACGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 276 943 1 0.9988619 0.999431 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.06209838 0.004418962 0.9942294 0.9661723 NA 0.03325867 NA FALSE NA 0.001 -0.771 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/9 rs576854811 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 8.236e-06 17:42224809 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 synonymous_variant -0.007395 0.80248 0.11828 0.732398 0.3498744 0 0.9999532 TRUE 1.21826e-05 ENSE00002378900_008 ENSE00002378900 008 17 40376762 40376931 - 35 90 45 T C 40376828 1814 104 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAGTGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG 42224743 42224913 42224809 42224810 42224810 exon -32 0.6555556 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAGTGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 180 25 0.9913748 0.9936205 0.9924977 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.05347315 -0.0008224275 0.9942294 0.9661723 NA 0.02632536 NA FALSE NA 1 5.778 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/9 1 NA ATT T,C 8.236e-06 17:42224810 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 missense_variant 0.122757 0.98633 0.98183 0.732398 0.9841528 0 0.9999532 TRUE 4.06081e-06 ENSE00002378900_009 ENSE00002378900 009 17 40376762 40376931 - 35 90 45 A G 40376835 1815 97 CCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAGTATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACT 42224743 42224913 42224816 42224817 42224817 exon -39 0.5777778 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATACTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 189 113 1 0.9786077 0.9893039 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.06209838 -0.01583525 0.9942294 0.9661723 NA 0.02313157 NA FALSE NA 1 1.602 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/9 1 NA AAT A,G 8.236e-06 17:42224817 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 synonymous_variant 0.262332 0.90801 0.11555 0.732398 0.4298747 0 0.9999532 TRUE 4.06088e-06 ENSE00002378900_010 ENSE00002378900 010 17 40376762 40376931 - 35 90 45 G T 40376842 1816 90 CCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGTCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACT 42224743 42224913 42224823 42224824 42224824 exon 45 0.5 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGACATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 51 291 1 1 1 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.06209838 0.00555703 0.9942294 0.9661723 NA 0.0338277 NA FALSE NA 0.693 -0.074 rs142297734 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/9 1 NA GGC G,T 8.236e-06 17:42224824 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 synonymous_variant 0.640612 0.94862 0.54385 0.732398 0.6074863 0 0.9999532 TRUE 8.12216e-06 ENSE00002378900_011 ENSE00002378900 011 17 40376762 40376931 - 35 90 45 C T 40376843 1817 89 CCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGTGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACT 42224743 42224913 42224824 42224825 42224825 exon 44 0.4888889 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCACCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 106 471 0.9970959 0.9397288 0.9684123 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.05919429 -0.05471421 0.9942294 0.9661723 NA 0.002240041 NA FALSE NA 1 3.865 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/9 1 NA GCG C,T 8.236e-06 17:42224825 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 missense_variant 5.650845 0.9822 0.84776 0.732398 0.9995055 0 0.9999532 TRUE 4.06154e-06 ENSE00002378900_012 ENSE00002378900 012 17 40376762 40376931 - 35 90 45 G A 40376844 1818 88 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCTGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG 42224743 42224913 42224825 42224826 42224826 exon 43 0.4777778 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCTGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 78 254 1 1 1 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.06209838 0.00555703 0.9942294 0.9661723 NA 0.0338277 NA FALSE NA 1 4.958 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/9 COSM1266910 1 NA CGG G,A 3.295e-05 17:42224826 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 missense_variant 5.864959 0.9845 0.9402 0.732398 0.9991078 0 0.9999532 TRUE 3.24913e-05 ENSE00002378900_014 ENSE00002378900 014 17 40376762 40376931 - 35 90 45 C A 40376857 1820 75 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTTGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG 42224743 42224913 42224838 42224839 42224839 exon 30 0.3333333 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTTGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 36 578 1 0.9982695 0.9991348 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.06209838 0.003826545 0.9942294 0.9661723 NA 0.03296246 NA FALSE NA 1 2.279 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 4/9 1 NA CCA C,A 8.236e-06 17:42224839 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 synonymous_variant 2.433741 0.97873 0.92264 0.732398 0.7111124 0 0.9999532 TRUE 4.06157e-06 ENSE00002378900_018 ENSE00002378900 018 17 40376762 40376931 - 35 90 45 G A 40376893 1824 39 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTTTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG 42224743 42224913 42224874 42224875 42224875 upstr_intron -7 -0.1333333 AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTTTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 183 126 1 1 1 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.06209838 0.00555703 0.9942294 0.9661723 NA 0.0338277 NA FALSE NA 1 5.321 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW STAT5B HGNC 11367 ENST00000468312 3/8 1 NA AGA G,A 1.647e-05 17:42224875 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 splice_region_variant 1.266761 0.98156 0.7253 0.106106 0.6677453 0.935426 0.9999532 TRUE 8.13352e-06 ENSE00002378900_019 ENSE00002378900 019 17 40376762 40376931 - 35 90 45 A C 40376902 1825 30 CCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACCGCAGACATCACTTTGTGCCACTCCACACT 42224743 42224913 42224883 42224884 42224884 upstr_intron -16 -0.3333333 AGTGTGGAGTGGCACAAAGTGATGTCTGCGGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 55 182 0.95 0.8539919 0.901996 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.01209838 -0.140451 0.9942294 0.9661723 NA -0.06417633 NA FALSE NA 0 0.284 . intron_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 3/8 1 NA CAG A,C 8.236e-06 17:42224884 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 intron_variant 0.284352 0.94984 0.08427 0.106106 0.5671524 0.0883628 0.9999532 TRUE 1.62835e-05 ENSE00002378900_020 ENSE00002378900 020 17 40376762 40376931 - 35 90 45 G A 40376917 1826 15 AGTGTGGAGTGGCATAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG 42224743 42224913 42224898 42224899 42224899 upstr_intron -31 -0.6666667 AGTGTGGAGTGGCATAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG AGTGTGGAGTGGCACAAAGTGATGTCTGCTGTTGGATTCTTTCAGAACACGTATGACCGCTGCCCCATGGAGCTGGTCCGCTGCATCCGCCATATATTGTACAATGAACAGAGGTTGGTCCGAGAAGCCAACAATGTGAGTGTCCCATAGGGATGGGGAGGGCAGTCGGG mutant NA NA NA NA NA 169 1204 0.9428209 1 0.9714104 0.991205 0.9972538 0.9379016 0.994443 NA NA 0.004919237 0.00555703 0.9942294 0.9661723 NA 0.005238133 NA FALSE NA 0.094 2.912 . intron_variant&non_coding_transcript_variant MODIFIER STAT5B HGNC 11367 ENST00000468312 3/8 1 NA TGT G,A 8.236e-06 17:42224899 STAT5B HGNC Symbol protein_coding 77539 ENSG00000173757 ENSE00003549969 intron_variant 0.236705 0.28872 0.15021 0.106106 0.4701768 0.0476782 0.9999532 TRUE 4.09675e-06 ENSE00002378942_000 ENSE00002378942 000 1 224868604 224868773 + 56 69 45 NA NA NA NA NA ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC 224680901 224681071 NA NA NA NA NA NA ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC natural 45 30 1 0.9968627 0.9984314 716 1222 0.9994816 0.9578177 0.9786496 1 0.9968627 0.9994816 0.9578177 0 0 0 0 0.9984314 0.9786496 0 0 0 FALSE FALSE NA NA NA NA NA CNIH3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNIH3 NA NA NA ENSG00000143786 ENSE00003685214 NA NA NA NA NA NA NA 0.3818184 FALSE NA ENSE00002378942_003 ENSE00002378942 003 1 224868604 224868773 + 56 69 45 C T 224868628 5102 25 ACATGGTGTGTTGACTCGTGTGCATTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC 224680901 224681071 224680925 224680926 224680926 upstr_intron -32 -0.5535714 ACATGGTGTGTTGACTCGTGTGCATTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC mutant 56 32 1 1 1 79 85 1 1 1 1 0.9968627 0.9994816 0.9578177 0 0.003137299 0.0005184425 0.04218228 0.9984314 0.9786496 0.00156865 0.02135036 0.01978171 FALSE FALSE 0.013 0.414 . intron_variant MODIFIER CNIH3 HGNC 26802 ENST00000272133 1/5 1 NA ACT C,T 1.647e-05 1:224680926 CNIH3 HGNC Symbol protein_coding 305889 ENSG00000143786 ENSE00003685214 intron_variant 0.029291 0.23055 0.06536 0.06567 0.4292441 0.0625828 0.3818184 FALSE 8.13511e-06 ENSE00002378942_007 ENSE00002378942 007 1 224868604 224868773 + 56 69 45 C T 224868723 5106 120 ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTTATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC 224680901 224681071 224681020 224681021 224681021 exon -6 0.9275362 ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTTATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC mutant NA NA NA NA NA 198 233 0.9709016 0.9993206 0.9851111 1 0.9968627 0.9994816 0.9578177 NA NA -0.02857993 0.04150291 0.9984314 0.9786496 NA 0.00646149 NA FALSE NA 0.997 5.322 . missense_variant MODERATE CNIH3 HGNC 26802 ENST00000272133 2/6 1 tolerated(0.09) possibly_damaging(0.745) NA TCA C,T 8.236e-06 1:224681021 CNIH3 HGNC Symbol protein_coding 305889 ENSG00000143786 ENSE00003685214 missense_variant 5.79368 0.98657 0.91597 0.638212 0.9980208 0 0.3818184 FALSE 1.62586e-05 ENSE00002378942_010 ENSE00002378942 010 1 224868604 224868773 + 56 69 45 C G 224868737 5109 134 ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGGGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC 224680901 224681071 224681034 224681035 224681035 downstr_intron 9 1.204545 ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGGGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC mutant NA NA NA NA NA 173 317 1 0.9807217 0.9903609 1 0.9968627 0.9994816 0.9578177 NA NA 0.0005184425 0.02290402 0.9984314 0.9786496 NA 0.01171123 NA FALSE NA 0 -2.334 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:224681035 CNIH3 HGNC Symbol protein_coding 305889 ENSG00000143786 ENSE00003685214 intron_variant -0.120788 0.14861 0.01281 0.06567 0.5529225 0.0543752 0.3818184 FALSE 4.06706e-06 ENSE00002378942_011 ENSE00002378942 011 1 224868604 224868773 + 56 69 45 C T 224868737 5110 134 ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGTGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC 224680901 224681071 224681034 224681035 224681035 downstr_intron 9 1.204545 ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGTGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC mutant NA NA NA NA NA 271 16 1 0.9116846 0.9558423 1 0.9968627 0.9994816 0.9578177 NA NA 0.0005184425 -0.04613316 0.9984314 0.9786496 NA -0.02280736 NA FALSE NA 0 -2.334 NA NA NA CNIH3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNIH3 NA NA NA ENSG00000143786 ENSE00003685214 intron_variant 0.01183 0.12039 0.00315 0.06567 0.6141927 0.0543752 0.3818184 FALSE 1.22012e-05 ENSE00002378942_014 ENSE00002378942 014 1 224868604 224868773 + 56 69 45 T A 224868744 5113 141 ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACAGGTGAGGGGAAGGTGCTATCACCCCAGGC 224680901 224681071 224681041 224681042 224681042 downstr_intron 16 1.363636 ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACAGGTGAGGGGAAGGTGCTATCACCCCAGGC ACATGGTGTGTTGACTCGTGTGCACTAACACCTCAAATCTCTGTATTCTGTTTCAGATAATTGCCTTTGATGAGTTAAGGACAGATTTTAAGAGCCCCATAGACCAGTGCAATCCTGTTCATGCGGTAAGTGGCGGGTACTGGTGAGGGGAAGGTGCTATCACCCCAGGC mutant NA NA NA NA NA 91 28 1 1 1 1 0.9968627 0.9994816 0.9578177 NA NA 0.0005184425 0.04218228 0.9984314 0.9786496 NA 0.02135036 NA FALSE NA 0 -0.085 . intron_variant MODIFIER CNIH3 HGNC 26802 ENST00000272133 2/5 1 NA CTG T,A 8.237e-06 1:224681042 CNIH3 HGNC Symbol protein_coding 305889 ENSG00000143786 ENSE00003685214 intron_variant 0.44055 0.22836 0.06883 0.06567 0.57234 0.0616935 0.3818184 FALSE 4.06871e-06 ENSE00002379912_000 ENSE00002379912 000 2 231158920 231159089 + 66 48 56 NA NA NA NA NA GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 NA NA NA NA NA NA GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC natural 26 13 0.9917718 1 0.9958859 2035 4399 0.8731739 0.9994156 0.9362948 0.9917718 1 0.8731739 0.9994156 0 0 0 0 0.9958859 0.9362948 0 0 0 FALSE FALSE NA NA NA NA NA SP140 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SP140 NA NA NA ENSG00000079263 ENSE00002436157 NA NA NA NA NA NA NA 1.996874e-08 FALSE NA ENSE00002379912_001 ENSE00002379912 001 2 231158920 231159089 + 66 48 56 C T 231158936 5180 17 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTATGAGTCTGGCATTTCC 230294204 230294374 230294220 230294221 230294221 upstr_intron -50 -0.7424242 GGAAATGCCAGACTCATAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 104 59 0.9771271 1 0.9885635 0.9917718 1 0.8731739 0.9994156 NA NA 0.1039532 0.000584355 0.9958859 0.9362948 NA 0.05226877 NA FALSE NA 0 -2.209 . intron_variant MODIFIER SP140 HGNC 17133 ENST00000343805 18/24 1 NA ACA C,T 1.655e-05 2:230294221 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 intron_variant 0.125503 0.08195 0.00693 0.295142 0.649559 0.0615991 1.996874e-08 FALSE 8.27595e-06 ENSE00002379912_002 ENSE00002379912 002 2 231158920 231159089 + 66 48 56 G A 231158942 5181 23 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCTGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294226 230294227 230294227 upstr_intron -44 -0.6515152 GGAAATGCCAGACTCACAAAACAGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 259 268 1 0.9910433 0.9955217 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 -0.008372307 0.9958859 0.9362948 NA 0.05922689 NA FALSE NA 0 -0.055 rs4973307 intron_variant MODIFIER SP140 HGNC 17133 ENST00000343805 18/24 rs4973307 1 A:0.0078 A:0 A:0.0245 NA A:0.0169 A:0.003 A:0.002 A:0.0005 A:0.0011 CGG G,A 0.006429 2:230294227 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 intron_variant 0.447839 0.07603 4e-04 0.295142 0.8238541 0.046875 1.996874e-08 FALSE 0.00781585 ENSE00002379912_004 ENSE00002379912 004 2 231158920 231159089 + 66 48 56 C T 231158949 5183 30 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTATGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294233 230294234 230294234 upstr_intron -37 -0.5454545 GGAAATGCCAGACTCACAAAACGGAAACATAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 295 576 0.8337898 0.9965705 0.9151802 0.9917718 1 0.8731739 0.9994156 NA NA -0.03938407 -0.002845162 0.9958859 0.9362948 NA -0.02111461 NA FALSE NA 0 -0.655 . intron_variant MODIFIER SP140 HGNC 17133 ENST00000343805 18/24 1 NA ACA C,T 1.655e-05 2:230294234 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 intron_variant 0.571311 0.09898 0.00734 0.295142 0.8344349 0.046875 1.996874e-08 FALSE 8.17548e-06 ENSE00002379912_005 ENSE00002379912 005 2 231158920 231159089 + 66 48 56 A T 231158961 5184 42 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTAAATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294245 230294246 230294246 upstr_intron -25 -0.3636364 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATTTACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 174 967 1 0.9974987 0.9987493 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 -0.001916967 0.9958859 0.9362948 NA 0.06245456 NA FALSE NA 0 -0.753 . intron_variant MODIFIER SP140 HGNC 17133 ENST00000343805 18/24 1 NA TAT A,T 8.275e-06 2:230294246 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 intron_variant 0.435802 0.12101 0.02183 0.295142 0.8481235 0.046875 1.996874e-08 FALSE 4.06832e-06 ENSE00002379912_006 ENSE00002379912 006 2 231158920 231159089 + 66 48 56 C T 231158965 5185 46 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAAGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294249 230294250 230294250 upstr_intron -21 -0.3030303 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACTTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 97 232 1 1 1 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 0.000584355 0.9958859 0.9362948 NA 0.06370522 NA FALSE NA 0 0.506 . intron_variant MODIFIER SP140 HGNC 17133 ENST00000343805 18/24 1 NA CCT C,T 8.275e-06 2:230294250 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 intron_variant 0.898073 0.09169 0.00043 0.295142 0.8314209 0.046875 1.996874e-08 FALSE NA ENSE00002379912_007 ENSE00002379912 007 2 231158920 231159089 + 66 48 56 A G 231158987 5186 68 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCACTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294271 230294272 230294272 exon 2 0.04166667 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAGTGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 937 311 0.9993835 0.9771909 0.9882872 0.9917718 1 0.8731739 0.9994156 NA NA 0.1262096 -0.02222474 0.9958859 0.9362948 NA 0.05199242 NA FALSE NA 0 -0.092 . missense_variant&splice_region_variant MODERATE SP140 HGNC 17133 ENST00000343805 19/25 rs371256904 1 tolerated(0.11) benign(0.006) NA G:0 G:0.0001 AAT A,G 8.276e-06 2:230294272 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant -0.992548 0.24746 0.03277 0.706548 0.3610486 0 1.996874e-08 FALSE 4.0625e-06 ENSE00002379912_008 ENSE00002379912 008 2 231158920 231159089 + 66 48 56 A G 231158991 5187 72 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAACCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294275 230294276 230294276 exon 6 0.125 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGGTTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 306 445 0.9843548 0.9996444 0.9919996 0.9917718 1 0.8731739 0.9994156 NA NA 0.1111809 0.000228791 0.9958859 0.9362948 NA 0.05570483 NA FALSE NA 0 -0.146 . synonymous_variant LOW SP140 HGNC 17133 ENST00000343805 19/25 1 NA GAT A,G 8.276e-06 2:230294276 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 synonymous_variant -0.068057 0.33121 0.03765 0.706548 0.6095013 0 1.996874e-08 FALSE 8.12506e-06 ENSE00002379912_009 ENSE00002379912 009 2 231158920 231159089 + 66 48 56 T G 231158996 5188 77 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCCGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294280 230294281 230294281 exon 11 0.2291667 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCGGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 299 270 1 0.9969702 0.9984851 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 -0.002445467 0.9958859 0.9362948 NA 0.06219031 NA FALSE NA 0.273 3.173 . missense_variant MODERATE SP140 HGNC 17133 ENST00000343805 19/25 1 deleterious(0) probably_damaging(0.998) NA CTG T,G 8.277e-06 2:230294281 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant 4.677867 0.94097 0.82688 0.706548 0.9962108 0 1.996874e-08 FALSE 8.12466e-06 ENSE00002379912_010 ENSE00002379912 010 2 231158920 231159089 + 66 48 56 G C 231158997 5189 78 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGGAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294281 230294282 230294282 exon 12 0.25 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTCCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 605 371 1 0.9939303 0.9969651 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 -0.005485378 0.9958859 0.9362948 NA 0.06067035 NA FALSE NA 0.024 -0.355 . synonymous_variant LOW SP140 HGNC 17133 ENST00000343805 19/25 rs374305156 1 NA C:0.0003 C:0 TGC G,C 8.277e-06 2:230294282 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 synonymous_variant -0.431304 0.85345 0.01828 0.706548 0.3533067 0 1.996874e-08 FALSE NA ENSE00002379912_011 ENSE00002379912 011 2 231158920 231159089 + 66 48 56 G C 231159001 5190 82 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATGAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294285 230294286 230294286 exon 16 0.3333333 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTCATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 916 847 0.9986443 0.9990963 0.9988703 0.9917718 1 0.8731739 0.9994156 NA NA 0.1254704 -0.0003193644 0.9958859 0.9362948 NA 0.06257553 NA FALSE NA 0 -1.692 . missense_variant MODERATE SP140 HGNC 17133 ENST00000343805 19/25 rs554004870 1 tolerated(0.15) benign(0.043) NA TGA G,C 8.277e-06 2:230294286 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant -0.483699 0.10223 0.00417 0.706548 0.6421646 0 1.996874e-08 FALSE 8.12579e-06 ENSE00002379912_012 ENSE00002379912 012 2 231158920 231159089 + 66 48 56 C T 231159007 5191 88 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGAAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294291 230294292 230294292 exon 22 0.4583333 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTTCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 85 161 1 0.9586074 0.9793037 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 -0.04080828 0.9958859 0.9362948 NA 0.0430089 NA FALSE NA 0.009 0.595 . missense_variant MODERATE SP140 HGNC 17133 ENST00000343805 19/25 rs539532927 1 deleterious(0.05) possibly_damaging(0.835) T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 TCC C,T 4.966e-05 2:230294292 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant 2.266096 0.23804 0.04249 0.706548 0.8903352 0 1.996874e-08 FALSE 2.84389e-05 ENSE00002379912_013 ENSE00002379912 013 2 231158920 231159089 + 66 48 56 C A 231159008 5192 89 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTTGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294292 230294293 230294293 exon 23 0.4791667 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCAAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 407 210 0.9865924 1 0.9932962 0.9917718 1 0.8731739 0.9994156 NA NA 0.1134185 0.000584355 0.9958859 0.9362948 NA 0.05700141 NA FALSE NA 0.018 1.063 . missense_variant MODERATE SP140 HGNC 17133 ENST00000343805 19/25 1 deleterious(0) probably_damaging(0.974) NA CCA C,A 2.483e-05 2:230294293 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant 3.656512 0.26424 0.10274 0.706548 0.9786491 0 1.996874e-08 FALSE 8.12585e-06 ENSE00002379912_015 ENSE00002379912 015 2 231158920 231159089 + 66 48 56 C T 231159016 5194 97 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACATATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294300 230294301 230294301 exon -18 0.6458333 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATATGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 879 96 0.9979216 0.9596844 0.978803 0.9917718 1 0.8731739 0.9994156 NA NA 0.1247477 -0.03973121 0.9958859 0.9362948 NA 0.04250823 NA FALSE NA 0 0.104 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:230294301 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant 2.880167 0.05287 0.00019 0.706548 0.8498964 0 1.996874e-08 FALSE 6.91315e-05 ENSE00002379912_017 ENSE00002379912 017 2 231158920 231159089 + 66 48 56 C G 231159016 5196 97 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACCTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294300 230294301 230294301 exon -18 0.6458333 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATAGGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 1243 17 0.9974224 1 0.9987112 0.9917718 1 0.8731739 0.9994156 NA NA 0.1242485 0.000584355 0.9958859 0.9362948 NA 0.06241644 NA FALSE NA 0 0.104 NA NA NA SP140 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SP140 NA NA NA ENSG00000079263 ENSE00002436157 missense_variant 0.217834 0.13578 0.02298 0.706548 0.7286391 0 1.996874e-08 FALSE 4.06656e-06 ENSE00002379912_018 ENSE00002379912 018 2 231158920 231159089 + 66 48 56 G A 231159017 5197 98 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAATGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294301 230294302 230294302 exon -17 0.6666667 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACATTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 1639 716 1 0.8176427 0.9088214 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 -0.1817729 0.9958859 0.9362948 NA -0.02747342 NA FALSE NA 0 0.202 . missense_variant MODERATE SP140 HGNC 17133 ENST00000343805 19/25 rs557885322 1 tolerated(0.13) benign(0.002) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 7.45e-05 2:230294302 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant 0.390572 0.03946 9e-05 0.706548 0.3406165 0 1.996874e-08 FALSE 0.000105718 ENSE00002379912_019 ENSE00002379912 019 2 231158920 231159089 + 66 48 56 A G 231159025 5198 106 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTCCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294309 230294310 230294310 exon -9 0.8333333 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGGAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 64 369 1 1 1 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 0.000584355 0.9958859 0.9362948 NA 0.06370522 NA FALSE NA 0.005 2.222 . missense_variant MODERATE SP140 HGNC 17133 ENST00000343805 19/25 COSM293686 1 deleterious(0.01) benign(0.356) NA GAA A,G 1.661e-05 2:230294310 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant 3.200109 0.12161 0.10686 0.706548 0.9652776 0 1.996874e-08 FALSE 3.29682e-05 ENSE00002379912_020 ENSE00002379912 020 2 231158920 231159089 + 66 48 56 A G 231159027 5199 108 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTCTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294311 230294312 230294312 exon -7 0.875 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAGAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 252 172 0.9986862 1 0.9993431 0.9917718 1 0.8731739 0.9994156 NA NA 0.1255123 0.000584355 0.9958859 0.9362948 NA 0.0630483 NA FALSE NA 0 -0.49 . synonymous_variant LOW SP140 HGNC 17133 ENST00000343805 19/25 1 NA AAA A,G 1.655e-05 2:230294312 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 synonymous_variant -1.197255 0.10928 0.01716 0.706548 0.5020975 0 1.996874e-08 FALSE 1.62517e-05 ENSE00002379912_021 ENSE00002379912 021 2 231158920 231159089 + 66 48 56 A T 231159029 5200 110 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTATTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294313 230294314 230294314 exon -5 0.9166667 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAATAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 173 37 1 1 1 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 0.000584355 0.9958859 0.9362948 NA 0.06370522 NA FALSE NA 0.001 -0.869 . missense_variant MODERATE SP140 HGNC 17133 ENST00000343805 19/25 1 deleterious(0.01) benign(0.069) NA AAA A,T 8.277e-06 2:230294314 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 missense_variant 0.569061 0.0835 0.01783 0.706548 0.9777002 0 1.996874e-08 FALSE 4.06293e-06 ENSE00002379912_022 ENSE00002379912 022 2 231158920 231159089 + 66 48 56 G A 231159048 5201 129 GTGCATGCTAAATCAGTTATGTGACAAGAAGCTGTATAAAGTTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294332 230294333 230294333 downstr_intron 15 1.272727 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAACTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 22 854 0.9112772 0.7576052 0.8344412 0.9917718 1 0.8731739 0.9994156 NA NA 0.03810324 -0.2418105 0.9958859 0.9362948 NA -0.1018536 NA FALSE NA 0.001 0.606 . intron_variant MODIFIER SP140 HGNC 17133 ENST00000343805 19/24 rs377655036 1 NA A:0.0003 A:0 AGC G,A 8.277e-06 2:230294333 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 intron_variant -0.280191 0.06531 0.00038 0.062308 0.3712682 0.0448725 1.996874e-08 FALSE 4.07342e-06 ENSE00002379912_024 ENSE00002379912 024 2 231158920 231159089 + 66 48 56 C T 231159069 5203 150 GTGCATGCTAAATCAGTTATATGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294353 230294354 230294354 downstr_intron 36 1.654545 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCATATAACTGATTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 118 1303 1 0.9979504 0.9989752 0.9917718 1 0.8731739 0.9994156 NA NA 0.1268261 -0.001465211 0.9958859 0.9362948 NA 0.06268044 NA FALSE NA 0 -3.961 . intron_variant MODIFIER SP140 HGNC 17133 ENST00000343805 19/24 1 NA ACA C,T 4.139e-05 2:230294354 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 intron_variant 0.457362 0.11356 0.00497 0.062308 0.7703237 0.0448725 1.996874e-08 FALSE 3.29259e-05 ENSE00002379912_025 ENSE00002379912 025 2 231158920 231159089 + 66 48 56 A T 231159077 5204 158 GTGCATGCTAAAACAGTTATGTGACAAGAAGCTGTATAAAGCTATGTAATAATCACCTTTTTTTTCCTGTAACGTATTCTTGGAGGATCAGGCAGAAATCCATTCTGAAAGACAAAAAGATTCAGGTATATGGTCAGCCTGTGTTTCCGTTTTGTGAGTCTGGCATTTCC 230294204 230294374 230294361 230294362 230294362 downstr_intron 44 1.8 GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGTTTTAGCATGCAC GGAAATGCCAGACTCACAAAACGGAAACACAGGCTGACCATATACCTGAATCTTTTTGTCTTTCAGAATGGATTTCTGCCTGATCCTCCAAGAATACGTTACAGGAAAAAAAAGGTGATTATTACATAGCTTTATACAGCTTCTTGTCACATAACTGATTTAGCATGCAC mutant NA NA NA NA NA 415 547 0.9966809 0.9997108 0.9981958 0.9917718 1 0.8731739 0.9994156 NA NA 0.123507 0.000295119 0.9958859 0.9362948 NA 0.06190104 NA FALSE NA 0.001 0.022 . intron_variant MODIFIER SP140 HGNC 17133 ENST00000343805 19/24 1 NA GAT A,T 8.278e-06 2:230294362 SP140 HGNC Symbol protein_coding 110105 ENSG00000079263 ENSE00002436157 intron_variant 0.379624 0.1084 0.03322 0.062308 0.8295885 0.0448725 1.996874e-08 FALSE 4.16486e-06 ENSE00002379967_000 ENSE00002379967 000 1 231081088 231081257 - 47 66 57 NA NA NA NA NA ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 NA NA NA NA NA NA ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC natural NA NA NA NA NA 1963 1203 0.9851467 0.8213814 0.903264 NA NA 0.9851467 0.8213814 NA NA 0 0 NA 0.903264 NA 0 NA FALSE NA NA NA NA NA NA TTC13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC13 NA NA NA ENSG00000143643 ENSE00003599394 NA NA NA NA NA NA NA 0.6732242 FALSE NA ENSE00002379967_001 ENSE00002379967 001 1 231081088 231081257 - 47 66 57 T C 231081099 5233 159 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTGCATGACCTGAC 230945341 230945511 230945352 230945353 230945353 downstr_intron 36 1.782609 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTGCATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 110 340 0.9852816 0.9962186 0.9907501 NA NA 0.9851467 0.8213814 NA NA 0.0001348806 0.1748372 NA 0.903264 NA 0.08748604 NA FALSE NA 0.006 -1.369 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 5/22 1 NA GTA T,C 8.236e-06 1:230945353 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 0.337711 0.1209 0.01622 0.099367 0.52691 0.116455 0.6732242 FALSE 4.06233e-06 ENSE00002379967_002 ENSE00002379967 002 1 231081088 231081257 - 47 66 57 G A 231081104 5234 154 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGTGCCTACATGACCTGAC 230945341 230945511 230945357 230945358 230945358 downstr_intron 31 1.673913 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGTGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 39 335 1 0.9859196 0.9929598 NA NA 0.9851467 0.8213814 NA NA 0.0148533 0.1645382 NA 0.903264 NA 0.08969575 NA FALSE NA 0.055 -0.049 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 5/22 rs368938634 1 NA A:0 A:0.0001 CGC G,A 5.765e-05 1:230945358 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 1.12238 0.12778 0.00225 0.156188 0.8337928 0.241134 0.6732242 FALSE 4.06187e-05 ENSE00002379967_003 ENSE00002379967 003 1 231081088 231081257 - 47 66 57 G T 231081109 5235 149 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCAATAGCGCCTACATGACCTGAC 230945341 230945511 230945362 230945363 230945363 downstr_intron 26 1.565217 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCAATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 59 1103 1 0.9879775 0.9939888 NA NA 0.9851467 0.8213814 NA NA 0.0148533 0.1665961 NA 0.903264 NA 0.09072471 NA FALSE NA 0.001 0.665 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 5/22 1 NA TGG G,T 8.236e-06 1:230945363 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 1.48735 0.20801 0.04376 0.156188 0.806659 0.241134 0.6732242 FALSE 4.06147e-06 ENSE00002379967_004 ENSE00002379967 004 1 231081088 231081257 - 47 66 57 C A 231081111 5236 147 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTTCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945364 230945365 230945365 downstr_intron 24 1.521739 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTTCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 187 277 1 1 1 NA NA 0.9851467 0.8213814 NA NA 0.0148533 0.1786186 NA 0.903264 NA 0.09673595 NA FALSE NA 0.004 0.985 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 5/22 1 NA GCA C,A 8.236e-06 1:230945365 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 1.762033 0.22666 0.0593 0.156188 0.8071822 0.23981 0.6732242 FALSE 8.12361e-06 ENSE00002379967_005 ENSE00002379967 005 1 231081088 231081257 - 47 66 57 C T 231081115 5237 143 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACAATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945368 230945369 230945369 downstr_intron 20 1.434783 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACAATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 18 119 0.8 0.9818299 0.890915 NA NA 0.9851467 0.8213814 NA NA -0.1851467 0.1604485 NA 0.903264 NA -0.01234909 NA FALSE NA 0 -0.024 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 5/22 rs573707642 1 NA TCG C,T 3.295e-05 1:230945369 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 1.578214 0.20578 0.04121 0.156188 0.7776049 0.23981 0.6732242 FALSE 2.03074e-05 ENSE00002379967_006 ENSE00002379967 006 1 231081088 231081257 - 47 66 57 G A 231081116 5238 142 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTATGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945369 230945370 230945370 downstr_intron 19 1.413043 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTATGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 426 316 0.9964695 0.9732803 0.9848749 NA NA 0.9851467 0.8213814 NA NA 0.01132277 0.1518989 NA 0.903264 NA 0.08161083 NA FALSE NA 0.002 0.724 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 5/22 1 NA CGT G,A 6.589e-05 1:230945370 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 1.221415 0.2022 0.02391 0.156188 0.8450633 0.23981 0.6732242 FALSE 4.87357e-05 ENSE00002379967_008 ENSE00002379967 008 1 231081088 231081257 - 47 66 57 T C 231081138 5240 120 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTGCATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945391 230945392 230945392 exon -4 0.9545455 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTGCATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 34 184 1 0.993753 0.9968765 NA NA 0.9851467 0.8213814 NA NA 0.0148533 0.1723716 NA 0.903264 NA 0.09361247 NA FALSE NA 0.988 0.147 . synonymous_variant LOW TTC13 HGNC 26204 ENST00000366661 5/23 1 NA GTA T,C 1.647e-05 1:230945392 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 synonymous_variant 0.470302 0.96696 0.6644 0.706548 0.8178321 0 0.6732242 FALSE 1.21828e-05 ENSE00002379967_009 ENSE00002379967 009 1 231081088 231081257 - 47 66 57 C T 231081144 5241 114 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAAGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945397 230945398 230945398 exon -10 0.8636364 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAAGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 55 464 1 0.9931211 0.9965605 NA NA 0.9851467 0.8213814 NA NA 0.0148533 0.1717397 NA 0.903264 NA 0.09329649 NA FALSE NA 1 2.128 rs150250319 synonymous_variant LOW TTC13 HGNC 26204 ENST00000366661 5/23 rs150250319 1 NA T:0 T:0.0001 CCT C,T 2.471e-05 1:230945398 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 synonymous_variant 1.991585 0.97695 0.59527 0.706548 0.615654 0 0.6732242 FALSE 3.24876e-05 ENSE00002379967_010 ENSE00002379967 010 1 231081088 231081257 - 47 66 57 C T 231081166 5242 92 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCAAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945419 230945420 230945420 exon -32 0.530303 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCAAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 20 32 0.808027 0.7482049 0.7781159 NA NA 0.9851467 0.8213814 NA NA -0.1771197 -0.0731765 NA 0.903264 NA -0.1251481 NA FALSE NA 1 7.165 . missense_variant MODERATE TTC13 HGNC 26204 ENST00000366661 5/23 COSM1720821 1 tolerated(0.05) probably_damaging(0.996) NA TCG C,T 8.236e-06 1:230945420 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 missense_variant 7.628558 0.99379 0.98419 0.706548 0.9996057 0 0.6732242 FALSE 4.06088e-06 ENSE00002379967_012 ENSE00002379967 012 1 231081088 231081257 - 47 66 57 G A 231081208 5244 50 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTTTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945461 230945462 230945462 upstr_intron -8 -0.122807 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTTTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 438 117 1 1 1 NA NA 0.9851467 0.8213814 NA NA 0.0148533 0.1786186 NA 0.903264 NA 0.09673595 NA FALSE NA 1 1.422 . splice_region_variant&intron_variant LOW TTC13 HGNC 26204 ENST00000366661 4/22 1 NA AGA G,A 8.236e-06 1:230945462 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 splice_region_variant 1.769063 0.95755 0.72132 0.062308 0.8042083 0.902272 0.6732242 FALSE 4.06128e-06 ENSE00002379967_013 ENSE00002379967 013 1 231081088 231081257 - 47 66 57 C T 231081210 5245 48 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGATCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945463 230945464 230945464 upstr_intron -10 -0.1578947 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGATCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 1840 2262 0.8559578 0.9923289 0.9241433 NA NA 0.9851467 0.8213814 NA NA -0.1291889 0.1709475 NA 0.903264 NA 0.02087929 NA FALSE NA 0.998 1.305 NA NA NA TTC13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:230945464 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 2.424733 0.94569 0.66979 0.062308 0.7772101 0.900077 0.6732242 FALSE 4.06128e-06 ENSE00002379967_015 ENSE00002379967 015 1 231081088 231081257 - 47 66 57 C T 231081216 5247 42 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTATTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945469 230945470 230945470 upstr_intron -16 -0.2631579 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTATTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 1173 164 0.9619834 0.9570009 0.9594921 NA NA 0.9851467 0.8213814 NA NA -0.02316333 0.1356195 NA 0.903264 NA 0.0562281 NA FALSE NA 1 2.385 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 4/22 rs199941027 1 NA T:0 T:0.0005 ACA C,T 0.0003459 1:230945470 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 2.309317 0.97296 0.68698 0.062308 0.8168351 0.903692 0.6732242 FALSE 0.000454941 ENSE00002379967_017 ENSE00002379967 017 1 231081088 231081257 - 47 66 57 C T 231081224 5249 34 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACATGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945477 230945478 230945478 upstr_intron -24 -0.4035088 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACATGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 182 243 1 0.9958213 0.9979106 NA NA 0.9851467 0.8213814 NA NA 0.0148533 0.1744399 NA 0.903264 NA 0.0946466 NA FALSE NA 1 2.459 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 4/22 1 NA ACG C,T 1.647e-05 1:230945478 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 2.581467 0.97985 0.75812 0.062308 0.7941999 0.900575 0.6732242 FALSE 4.06408e-06 ENSE00002379967_018 ENSE00002379967 018 1 231081088 231081257 - 47 66 57 G A 231081225 5250 33 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGATGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945478 230945479 230945479 upstr_intron -25 -0.4210526 ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGATGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 888 67 0.9900569 1 0.9950285 NA NA 0.9851467 0.8213814 NA NA 0.004910216 0.1786186 NA 0.903264 NA 0.09176441 NA FALSE NA 1 0.395 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 4/22 1 NA CGT G,A 6.589e-05 1:230945479 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 2.518492 0.97338 0.62518 0.062308 0.7935515 0.880473 0.6732242 FALSE 8.53929e-05 ENSE00002379967_021 ENSE00002379967 021 1 231081088 231081257 - 47 66 57 A G 231081235 5253 23 ATTTTTTGTTTTGTTTTGTTTACGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945488 230945489 230945489 upstr_intron -35 -0.5964912 ATTTTTTGTTTTGTTTTGTTTACGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 111 94 1 0.9809643 0.9904822 NA NA 0.9851467 0.8213814 NA NA 0.0148533 0.1595829 NA 0.903264 NA 0.08721812 NA FALSE NA 0.988 2.729 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 4/22 1 NA CAT A,G 1.647e-05 1:230945489 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 1.164271 0.42113 0.08506 0.062308 0.6886286 0.259298 0.6732242 FALSE 1.21972e-05 ENSE00002379967_023 ENSE00002379967 023 1 231081088 231081257 - 47 66 57 A G 231081244 5255 14 ATTTTTTGTTTTGCTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 230945497 230945498 230945498 upstr_intron -44 -0.754386 ATTTTTTGTTTTGCTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC mutant NA NA NA NA NA 1032 2295 0.9870209 0.9942405 0.9906307 NA NA 0.9851467 0.8213814 NA NA 0.001874244 0.1728591 NA 0.903264 NA 0.08736669 NA FALSE NA 1 1.942 . intron_variant MODIFIER TTC13 HGNC 26204 ENST00000366661 4/22 1 NA AAC A,G 8.236e-06 1:230945498 TTC13 HGNC Symbol protein_coding 72632 ENSG00000143643 ENSE00003599394 intron_variant 0.277056 0.18844 0.67464 0.062308 0.5143735 0.351909 0.6732242 FALSE 4.0707e-06 ENSE00002379967_BRK ENSE00002379967 BRK 1 231081088 231081257 - 47 66 57 A,G; T,T NA NA NA ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTTTGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATCCGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC 230945341 230945511 NA NA NA NA NA NA ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTTTGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATCCGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC ATTTTTTGTTTTGTTTTGTTTATGGTTTTTGACGTGTTTTTGTTTTGGTCTGACTAGGAGGAGCCTGATCTGGTTAGTGCAATTTATGGCCGAGGGATAGCCTATGGAAAGAAGGGACTACATGTGAGTATGTAATAGTTACGATTGCCATAGCGCCTACATGACCTGAC control NA NA NA NA NA 248 1480 0 0.0002161002 0.0001080501 NA NA 0.9851467 0.8213814 NA NA -0.9851467 -0.8211653 NA 0.903264 NA -0.903156 NA TRUE NA NA NA NA NA NA TTC13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTC13 NA NA NA ENSG00000143643 ENSE00003599394 NA NA NA NA NA NA NA 0.6732242 FALSE NA ENSE00002380189_000 ENSE00002380189 000 3 101212685 101212854 - 32 96 42 NA NA NA NA NA TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 NA NA NA NA NA NA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA natural NA NA NA NA NA 5987 5796 0.983704 0.9680845 0.9758943 NA NA 0.983704 0.9680845 NA NA 0 0 NA 0.9758943 NA 0 NA FALSE NA NA NA NA NA NA SENP7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SENP7 NA NA NA ENSG00000138468 ENSE00003668679 NA NA NA NA NA NA NA 0.9872607 TRUE NA ENSE00002380189_002 ENSE00002380189 002 3 101212685 101212854 - 32 96 42 A G 101212712 2177 143 TATACTTAAAATAAATTAATTTTATTTGCCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493867 101493868 101493868 downstr_intron 5 1.16129 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGCAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 191 43 0.00774431 0 0.003872155 NA NA 0.983704 0.9680845 NA NA -0.9759597 -0.9680845 NA 0.9758943 NA -0.9720221 NA TRUE NA 1 4.18 . splice_region_variant&intron_variant LOW SENP7 HGNC 30402 ENST00000394091 2/20 1 NA TAC A,G 3.295e-05 3:101493868 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 splice_region_variant 1.27896 0.983 0.90814 0.164513 0.8932619 0.918443 0.9872607 TRUE 2.47611e-05 ENSE00002380189_004 ENSE00002380189 004 3 101212685 101212854 - 32 96 42 T A 101212731 2179 124 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGACCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493886 101493887 101493887 exon -15 0.8541667 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGTCTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 1232 107 0.9829305 0.9985191 0.9907248 NA NA 0.983704 0.9680845 NA NA -0.0007734948 0.03043459 NA 0.9758943 NA 0.01483055 NA FALSE NA 0.791 -0.426 . missense_variant MODERATE SENP7 HGNC 30402 ENST00000394091 2/21 1 tolerated_low_confidence(0.14) benign(0.002) NA GTC T,A 8.236e-06 3:101493887 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 missense_variant 2.073726 0.95033 0.26903 0.693126 0.9590747 0 0.9872607 TRUE 8.13882e-06 ENSE00002380189_005 ENSE00002380189 005 3 101212685 101212854 - 32 96 42 C T 101212736 2180 119 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGTGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493891 101493892 101493892 exon -20 0.8020833 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACACTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 2136 1723 0.9976258 0.9998861 0.9987559 NA NA 0.983704 0.9680845 NA NA 0.01392172 0.03180163 NA 0.9758943 NA 0.02286168 NA FALSE NA 0.073 -0.379 NA NA NA SENP7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:101493892 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 missense_variant 2.253416 0.14695 0.00785 0.693126 0.9858755 0 0.9872607 TRUE 4.06944e-06 ENSE00002380189_009 ENSE00002380189 009 3 101212685 101212854 - 32 96 42 T C 101212738 2184 117 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGCTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493893 101493894 101493894 exon -22 0.78125 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAGCGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 239 166 1 0.9997704 0.9998852 NA NA 0.983704 0.9680845 NA NA 0.01629596 0.03168595 NA 0.9758943 NA 0.02399096 NA FALSE NA 0.277 0.153 . synonymous_variant LOW SENP7 HGNC 30402 ENST00000394091 2/21 1 NA GTT T,C 1.647e-05 3:101493894 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 synonymous_variant -0.420713 0.37697 0.05492 0.693126 0.536867 0 0.9872607 TRUE 8.13511e-06 ENSE00002380189_010 ENSE00002380189 010 3 101212685 101212854 - 32 96 42 G C 101212744 2185 111 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGACCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493899 101493900 101493900 exon -28 0.71875 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGGTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 500 1393 0.9885956 0.9967356 0.9926656 NA NA 0.983704 0.9680845 NA NA 0.004891539 0.02865111 NA 0.9758943 NA 0.01677132 NA FALSE NA 1 2.931 . missense_variant MODERATE SENP7 HGNC 30402 ENST00000394091 2/21 1 tolerated_low_confidence(0.31) possibly_damaging(0.883) NA AGC G,C 8.236e-06 3:101493900 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 missense_variant 2.226959 0.97085 0.81233 0.693126 0.9966631 0 0.9872607 TRUE 4.06659e-06 ENSE00002380189_012 ENSE00002380189 012 3 101212685 101212854 - 32 96 42 A G 101212760 2187 95 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACGGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493915 101493916 101493916 exon -44 0.5520833 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACCGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 951 62 1 0.9685805 0.9842903 NA NA 0.983704 0.9680845 NA NA 0.01629596 0.0004960819 NA 0.9758943 NA 0.008396021 NA FALSE NA 1 1.595 . missense_variant MODERATE SENP7 HGNC 30402 ENST00000394091 2/21 1 deleterious_low_confidence(0.01) probably_damaging(0.955) NA CAG A,G 8.236e-06 3:101493916 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 missense_variant 5.111542 0.95668 0.62109 0.693126 0.9984147 0 0.9872607 TRUE 4.06577e-06 ENSE00002380189_013 ENSE00002380189 013 3 101212685 101212854 - 32 96 42 T C 101212762 2188 93 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGCGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493917 101493918 101493918 exon -46 0.53125 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCGCTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 803 685 1 0.9960351 0.9980176 NA NA 0.983704 0.9680845 NA NA 0.01629596 0.02795065 NA 0.9758943 NA 0.02212331 NA FALSE NA 1 0.704 rs148653905 synonymous_variant LOW SENP7 HGNC 30402 ENST00000394091 2/21 rs148653905 1 NA C:0.0002 C:0 GTG T,C 1.647e-05 3:101493918 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 synonymous_variant 0.273088 0.95639 0.4852 0.693126 0.7210878 0 0.9872607 TRUE 8.13094e-06 ENSE00002380189_014 ENSE00002380189 014 3 101212685 101212854 - 32 96 42 T C 101212775 2189 80 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACACGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493930 101493931 101493931 exon 38 0.3958333 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCGTGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 750 689 1 0.9917506 0.9958753 NA NA 0.983704 0.9680845 NA NA 0.01629596 0.02366611 NA 0.9758943 NA 0.01998103 NA FALSE NA 0.008 -0.562 . missense_variant MODERATE SENP7 HGNC 30402 ENST00000394091 2/21 1 tolerated_low_confidence(0.22) possibly_damaging(0.702) NA ATG T,C 8.236e-06 3:101493931 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 missense_variant 0.923843 0.82383 0.03509 0.693126 0.9799386 0 0.9872607 TRUE 4.06587e-06 ENSE00002380189_015 ENSE00002380189 015 3 101212685 101212854 - 32 96 42 T G 101212810 2190 45 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTGATCTGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493965 101493966 101493966 exon 3 0.03125 TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATCAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 541 205 1 0.988248 0.994124 NA NA 0.983704 0.9680845 NA NA 0.01629596 0.02016354 NA 0.9758943 NA 0.01822975 NA FALSE NA 1 1.425 . splice_region_variant&5_prime_UTR_variant LOW SENP7 HGNC 30402 ENST00000394091 2/21 rs528979975 1 G:0.0008 G:0 G:0 NA G:0 G:0 G:0.0041 TTA T,G 4.118e-05 3:101493966 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 splice_region_variant 2.265291 0.97742 0.75416 0.693126 0.8926284 0 0.9872607 TRUE 2.85135e-05 ENSE00002380189_016 ENSE00002380189 016 3 101212685 101212854 - 32 96 42 G A 101212826 2191 29 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATAAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493981 101493982 101493982 upstr_intron -14 -0.3095238 TATAGTTCAATTAAACTAATTATTTTCTTATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 99 527 1 1 1 NA NA 0.983704 0.9680845 NA NA 0.01629596 0.03191554 NA 0.9758943 NA 0.02410575 NA FALSE NA 0.726 -0.106 . intron_variant MODIFIER SENP7 HGNC 30402 ENST00000394091 1/20 rs550744780 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TGA G,A 8.236e-06 3:101493982 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 intron_variant 0.330197 0.24291 0.08931 0.053691 0.4145995 0.0989115 0.9872607 TRUE 8.16753e-06 ENSE00002380189_017 ENSE00002380189 017 3 101212685 101212854 - 32 96 42 G A 101212828 2192 27 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAAAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 101493983 101493984 101493984 upstr_intron -16 -0.3571429 TATAGTTCAATTAAACTAATTATTTTTTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 102 1368 1 1 1 NA NA 0.983704 0.9680845 NA NA 0.01629596 0.03191554 NA 0.9758943 NA 0.02410575 NA FALSE NA 0.999 0.894 . intron_variant MODIFIER SENP7 HGNC 30402 ENST00000394091 1/20 1 NA AGA G,A 1.647e-05 3:101493984 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 intron_variant 0.564267 0.89449 0.43563 0.053691 0.4092145 0.193195 0.9872607 TRUE 8.17274e-06 ENSE00002380189_019 ENSE00002380189 019 3 101212685 101212854 - 32 96 42 T C 101212842 2194 13 TATACTTAAAATAAATTAATTTTATTTACCACCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATCTGAAAATAGGATGAGAAAATAATTAGTTCAATTGAACTATA 101493840 101494010 101493997 101493998 101493998 upstr_intron -30 -0.6904762 TATAGTTCAATTGAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA mutant NA NA NA NA NA 1031 56 0.9962768 0.9652281 0.9807525 NA NA 0.983704 0.9680845 NA NA 0.01257277 -0.002856339 NA 0.9758943 NA 0.004858216 NA FALSE NA 0.008 0.809 . intron_variant MODIFIER SENP7 HGNC 30402 ENST00000394091 1/20 1 NA TTA T,C 8.237e-06 3:101493998 SENP7 HGNC Symbol protein_coding 189036 ENSG00000138468 ENSE00003668679 intron_variant 0.049727 0.14903 0.02531 0.053691 0.7828158 0.162877 0.9872607 TRUE 4.13866e-06 ENSE00002380189_BRK ENSE00002380189 BRK 3 101212685 101212854 - 32 96 42 A,G; T,T NA NA NA TATACTTAAAATAAATTAATTTTATTTACCGGCTGCAAAGGGAGAGTCCAGCGTTCTGAGCTTCTGAATTTGGACAGTGGTGATTGAACATGGACATCCTCTGGTTTTGCATTTAACATCTTTCTTATAAGAAAATAGGATGAGAAAATAATTAGTTTAATTGAACTATA 101493840 101494010 NA NA NA NA NA NA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCTTATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGCCGGTAAATAAAATTAATTTATTTTAAGTATA TATAGTTCAATTAAACTAATTATTTTCTCATCCTATTTTCAGATAAGAAAGATGTTAAATGCAAAACCAGAGGATGTCCATGTTCAATCACCACTGTCCAAATTCAGAAGCTCAGAACGCTGGACTCTCCCTTTGCAGGTGGTAAATAAAATTAATTTATTTTAAGTATA control NA NA NA NA NA 691 623 0.1098499 0.1064641 0.108157 NA NA 0.983704 0.9680845 NA NA -0.8738541 -0.8616203 NA 0.9758943 NA -0.8677372 NA TRUE NA NA NA NA NA NA SENP7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SENP7 NA NA NA ENSG00000138468 ENSE00003668679 NA NA NA NA NA NA NA 0.9872607 TRUE NA ENSE00002380420_000 ENSE00002380420 000 2 201505774 201505943 + 47 87 36 NA NA NA NA NA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 NA NA NA NA NA NA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA natural NA NA NA NA NA 2223 1359 0.9789586 0.9899457 0.9844522 NA NA 0.9789586 0.9899457 NA NA 0 0 NA 0.9844522 NA 0 NA FALSE NA NA NA NA NA NA AOX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00003474115 NA NA NA NA NA NA NA 2.679367e-22 FALSE NA ENSE00002380420_002 ENSE00002380420 002 2 201505774 201505943 + 47 87 36 C T 201505799 4110 26 GAGACTTGGCCCCTGTTCCAGCATTTGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641075 200641076 200641076 upstr_intron -22 -0.4468085 GAGACTTGGCCCCTGTTCCAGCATTTGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 133 1916 0.999068 0.9975871 0.9983275 NA NA 0.9789586 0.9899457 NA NA 0.02010937 0.007641332 NA 0.9844522 NA 0.01387535 NA FALSE NA 0 -0.029 . intron_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 1/2 1 NA TCG C,T 1.647e-05 2:200641076 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 intron_variant 0.142469 0.15374 0.00967 0.053691 0.4956315 0.0501591 2.679367e-22 FALSE 2.85945e-05 ENSE00002380420_003 ENSE00002380420 003 2 201505774 201505943 + 47 87 36 G A 201505800 4111 27 GAGACTTGGCCCCTGTTCCAGCATTCAATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641076 200641077 200641077 upstr_intron -21 -0.4255319 GAGACTTGGCCCCTGTTCCAGCATTCAATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 206 75 1 0.9691029 0.9845514 NA NA 0.9789586 0.9899457 NA NA 0.02104136 -0.02084287 NA 0.9844522 NA 9.924752e-05 NA FALSE NA 0 -0.144 . intron_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 1/2 rs370815147 1 NA A:0 A:0.0001 CGA G,A 4.942e-05 2:200641077 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 intron_variant 0.000456 0.07013 0.00238 0.053691 0.5291724 0.0501591 2.679367e-22 FALSE 5.71741e-05 ENSE00002380420_004 ENSE00002380420 004 2 201505774 201505943 + 47 87 36 A T 201505801 4112 28 GAGACTTGGCCCCTGTTCCAGCATTCGTTATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641077 200641078 200641078 upstr_intron -20 -0.4042553 GAGACTTGGCCCCTGTTCCAGCATTCGTTATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 50 368 0.9599452 1 0.9799726 NA NA 0.9789586 0.9899457 NA NA -0.01901344 0.01005426 NA 0.9844522 NA -0.004479592 NA FALSE NA 0.003 0.953 . intron_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 1/2 1 NA GAT A,T 8.236e-06 2:200641078 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 intron_variant -0.119715 0.28372 0.11827 0.053691 0.3762361 0.0501591 2.679367e-22 FALSE 4.07967e-06 ENSE00002380420_005 ENSE00002380420 005 2 201505774 201505943 + 47 87 36 G A 201505806 4113 33 GAGACTTGGCCCCTGTTCCAGCATTCGATATCAGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641082 200641083 200641083 upstr_intron -15 -0.2978723 GAGACTTGGCCCCTGTTCCAGCATTCGATATCAGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 495 37 0.8582412 1 0.9291206 NA NA 0.9789586 0.9899457 NA NA -0.1207174 0.01005426 NA 0.9844522 NA -0.05533157 NA FALSE NA 0 0.044 . intron_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 1/2 rs200235463 1 A:0.0004 A:0.0008 A:0.0014 NA A:0 A:0 A:0 A:0.0007 A:0 CGG G,A 7.413e-05 2:200641083 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 intron_variant -0.114536 0.13601 0.00669 0.053691 0.3308017 0.0501591 2.679367e-22 FALSE 6.52507e-05 ENSE00002380420_006 ENSE00002380420 006 2 201505774 201505943 + 47 87 36 C G 201505810 4114 37 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTGTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641086 200641087 200641087 upstr_intron -11 -0.212766 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTGTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 520 158 0.964518 1 0.982259 NA NA 0.9789586 0.9899457 NA NA -0.01444064 0.01005426 NA 0.9844522 NA -0.002193189 NA FALSE NA 0.004 0.081 . intron_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 1/2 1 NA TCT C,G 8.236e-06 2:200641087 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 intron_variant -0.126086 0.20465 0.17373 0.053691 0.5481331 0.0746698 2.679367e-22 FALSE 8.14286e-06 ENSE00002380420_007 ENSE00002380420 007 2 201505774 201505943 + 47 87 36 C T 201505812 4115 39 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTTTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641088 200641089 200641089 upstr_intron -9 -0.1702128 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTTTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 361 367 1 0.9958505 0.9979253 NA NA 0.9789586 0.9899457 NA NA 0.02104136 0.005904765 NA 0.9844522 NA 0.01347306 NA FALSE NA 0.001 0.053 . intron_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 1/2 1 NA TCT C,T 1.647e-05 2:200641089 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 intron_variant 0.099851 0.29876 0.03137 0.053691 0.6821284 0.0746698 2.679367e-22 FALSE 2.03499e-05 ENSE00002380420_008 ENSE00002380420 008 2 201505774 201505943 + 47 87 36 C T 201505818 4116 45 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCTAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641094 200641095 200641095 upstr_intron -3 -0.04255319 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCTAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 176 343 1 1 1 NA NA 0.9789586 0.9899457 NA NA 0.02104136 0.01005426 NA 0.9844522 NA 0.01554781 NA FALSE NA 0.215 0.703 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW AOX1 HGNC 553 ENST00000472553 1/2 1 NA CCA C,T 8.236e-06 2:200641095 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 splice_region_variant 1.83977 0.88415 0.08145 0.078448 0.7400816 0.0579032 2.679367e-22 FALSE 4.06861e-06 ENSE00002380420_009 ENSE00002380420 009 2 201505774 201505943 + 47 87 36 T G 201505827 4117 54 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGAGTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641103 200641104 200641104 exon 7 0.08045977 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGAGTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 51 177 1 1 1 NA NA 0.9789586 0.9899457 NA NA 0.02104136 0.01005426 NA 0.9844522 NA 0.01554781 NA FALSE NA 1 7.656 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 2/3 COSM318709 1 NA ATT T,G 3.295e-05 2:200641104 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 missense_variant 5.894376 0.99491 0.99359 0.615465 0.9913792 0 2.679367e-22 FALSE 2.0326e-05 ENSE00002380420_014 ENSE00002380420 014 2 201505774 201505943 + 47 87 36 G C 201505863 4122 90 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGCAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641139 200641140 200641140 exon 43 0.4942529 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGCAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 347 104 0.9915007 1 0.9957503 NA NA 0.9789586 0.9899457 NA NA 0.01254202 0.01005426 NA 0.9844522 NA 0.01129814 NA FALSE NA 0 0.027 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 2/3 COSM3798490 1 NA GGA G,C 8.236e-06 2:200641140 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 missense_variant 1.264261 0.31777 0.11797 0.615465 0.9744833 0 2.679367e-22 FALSE 8.12922e-06 ENSE00002380420_015 ENSE00002380420 015 2 201505774 201505943 + 47 87 36 G A 201505878 4123 105 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATACAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641154 200641155 200641155 exon -30 0.6666667 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATACAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 391 32 0.9995023 1 0.9997512 NA NA 0.9789586 0.9899457 NA NA 0.02054368 0.01005426 NA 0.9844522 NA 0.01529897 NA FALSE NA 1 3.672 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000472553 2/3 rs368167502 1 NA A:0 A:0.0001 TGC G,A 2.471e-05 2:200641155 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 missense_variant 5.465852 0.99276 0.97076 0.615465 0.9982891 0 2.679367e-22 FALSE 1.21943e-05 ENSE00002380420_018 ENSE00002380420 018 2 201505774 201505943 + 47 87 36 G T 201505884 4126 111 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCTCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641160 200641161 200641161 exon -24 0.7356322 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCTCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 294 1950 1 1 1 NA NA 0.9789586 0.9899457 NA NA 0.02104136 0.01005426 NA 0.9844522 NA 0.01554781 NA FALSE NA 0 0.306 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:200641161 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 missense_variant -1.216743 0.14774 0.02622 0.615465 0.4469603 0 2.679367e-22 FALSE 0.000479753 ENSE00002380420_019 ENSE00002380420 019 2 201505774 201505943 + 47 87 36 G A 201505884 4127 111 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCACCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641160 200641161 200641161 exon -24 0.7356322 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCACCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 138 677 1 0.9977193 0.9988596 NA NA 0.9789586 0.9899457 NA NA 0.02104136 0.007773526 NA 0.9844522 NA 0.01440744 NA FALSE NA 0 0.306 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00003474115 missense_variant -0.709139 0.1345 0.02282 0.615465 0.6886742 0 2.679367e-22 FALSE 1.21971e-05 ENSE00002380420_023 ENSE00002380420 023 2 201505774 201505943 + 47 87 36 G T 201505908 4131 135 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCTTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 200641184 200641185 200641185 downstr_intron 1 1.028571 GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCTTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA mutant NA NA NA NA NA 14 329 0 0 0 NA NA 0.9789586 0.9899457 NA NA -0.9789586 -0.9899457 NA 0.9844522 NA -0.9844522 NA TRUE NA 1 7.455 NA NA NA AOX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:200641185 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003474115 splice_donor_variant 3.347825 0.99326 0.99121 0.078448 0.9859686 0.776977 2.679367e-22 FALSE 4.0709e-06 ENSE00002380420_BRK ENSE00002380420 BRK 2 201505774 201505943 + 47 87 36 A,G; T,T NA NA NA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCTTGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCCCAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA 200641050 200641220 NA NA NA NA NA NA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCTTGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCCCAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA GAGACTTGGCCCCTGTTCCAGCATTCGATATCGGTTCTCTTCCCCAGGCTGGATTCATGAACGATGGCAGAATCTTGGCCCTGGACATGGAGCATTACAGCAATGCAGGCGCCTCCTTGGATGAATCATTATTCGTAAGTGTTTTAAGGAGCAAGTTCACATTCCTGAAA control 215 205 0 0 0 NA NA NA NA NA NA NA 0.9789586 0.9899457 NA NA NA NA NA 0.9844522 NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00003474115 NA NA NA NA NA NA NA 2.679367e-22 FALSE NA ENSE00002380598_000 ENSE00002380598 000 3 182804449 182804618 - 32 96 42 NA NA NA NA NA TTTTGCACTGCAAATCTCTTCACAACCCTCACCTGTGCAGCAGAGGTCTTGGCCACTTGAATGATTTTCTCCATAGATAGGTAGCTCTGCTGGGAGGGAGCGGGGCCGATGGAATATGCTTCATCTGCCTGTTTAAGAAACATCACATGCTTAAAAGACTTTGTGGCTAG 183086660 183086830 NA NA NA NA NA NA CTAGCCACAAAGTCTTTTAAGCATGTGATGTTTCTTAAACAGGCAGATGAAGCATATTCCATCGGCCCCGCTCCCTCCCAGCAGAGCTACCTATCTATGGAGAAAATCATTCAAGTGGCCAAGACCTCTGCTGCACAGGTGAGGGTTGTGAAGAGATTTGCAGTGCAAAA CTAGCCACAAAGTCTTTTAAGCATGTGATGTTTCTTAAACAGGCAGATGAAGCATATTCCATCGGCCCCGCTCCCTCCCAGCAGAGCTACCTATCTATGGAGAAAATCATTCAAGTGGCCAAGACCTCTGCTGCACAGGTGAGGGTTGTGAAGAGATTTGCAGTGCAAAA natural NA NA NA NA NA 811 638 0.987408 0.9909875 0.9891978 NA NA 0.987408 0.9909875 NA NA 0 0 NA 0.9891978 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003567325 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00002380807_000 ENSE00002380807 000 17 48270302 48270471 - 53 54 63 NA NA NA NA NA AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 NA NA NA NA NA NA AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT natural 43 54 0.9916665 0.9431745 0.9674205 1295 1375 0.9922301 0.8690561 0.9306431 0.9916665 0.9431745 0.9922301 0.8690561 0 0 0 0 0.9674205 0.9306431 0 0 0 FALSE FALSE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00003497522 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002380807_001 ENSE00002380807 001 17 48270302 48270471 - 53 54 63 T C 48270320 2444 152 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCGTTGCTGCCCCGGCACTTT 50192940 50193110 50192958 50192959 50192959 downstr_intron 35 1.673077 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCGTTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 72 77 1 1 1 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.00776992 0.1309439 0.9674205 0.9306431 NA 0.06935692 NA FALSE NA 0 -1.921 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs575276709 1 NA ATG T,C 8.236e-06 17:50192959 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.213397 0.23032 0.01821 0.199473 0.4520578 0.0813485 1 TRUE 1.62898e-05 ENSE00002380807_002 ENSE00002380807 002 17 48270302 48270471 - 53 54 63 G A 48270321 2445 151 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCTATTGCTGCCCCGGCACTTT 50192940 50193110 50192959 50192960 50192960 downstr_intron 34 1.653846 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCTATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 61 81 1 1 1 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.00776992 0.1309439 0.9674205 0.9306431 NA 0.06935692 NA FALSE NA 0 -1.674 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TGG G,A 8.237e-06 17:50192960 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.010142 0.17006 0.00666 0.199473 0.71865 0.0813485 1 TRUE 4.07242e-06 ENSE00002380807_003 ENSE00002380807 003 17 48270302 48270471 - 53 54 63 G T 48270323 2446 149 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTACCATTGCTGCCCCGGCACTTT 50192940 50193110 50192961 50192962 50192962 downstr_intron 32 1.615385 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTACCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 357 13 0.9960827 1 0.9980414 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.003852659 0.1309439 0.9674205 0.9306431 NA 0.06739828 NA FALSE NA 0 -0.153 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs371324431 1 NA T:0 T:0.0001 GGA G,T 8.237e-06 17:50192962 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.240939 0.3321 0.05344 0.199473 0.8595236 0.0813485 1 TRUE 4.07146e-06 ENSE00002380807_004 ENSE00002380807 004 17 48270302 48270471 - 53 54 63 G A 48270329 2447 143 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACTTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50192967 50192968 50192968 downstr_intron 26 1.5 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACTTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 572 261 0.993087 0.820394 0.9067405 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.0008569607 -0.04866205 0.9674205 0.9306431 NA -0.02390255 NA FALSE NA 0 2.031 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs541971520 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G,A 8.237e-06 17:50192968 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.358857 0.32503 0.13721 0.199473 0.8526154 0.134463 1 TRUE 4.0706e-06 ENSE00002380807_005 ENSE00002380807 005 17 48270302 48270471 - 53 54 63 G A 48270333 2448 139 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCTTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50192971 50192972 50192972 downstr_intron 22 1.423077 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCTTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 235 10 0.9992974 1 0.9996487 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.007067323 0.1309439 0.9674205 0.9306431 NA 0.06900562 NA FALSE NA 0 -0.358 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs201222225 1 NA A:0.0002 A:0.0001 AGG G,A 9.06e-05 17:50192972 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.467476 0.29819 0.04472 0.199473 0.7739312 0.0843644 1 TRUE 8.95641e-05 ENSE00002380807_006 ENSE00002380807 006 17 48270302 48270471 - 53 54 63 G A 48270335 2449 137 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATTCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50192973 50192974 50192974 downstr_intron 20 1.384615 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATTCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 248 63 0.9990001 1 0.9995 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.006769996 0.1309439 0.9674205 0.9306431 NA 0.06885695 NA FALSE NA 0 0.928 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGA G,A 1.647e-05 17:50192974 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.264297 0.29855 0.09008 0.199473 0.7021405 0.0843644 1 TRUE 8.14206e-06 ENSE00002380807_007 ENSE00002380807 007 17 48270302 48270471 - 53 54 63 G A 48270343 2450 129 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCTTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50192981 50192982 50192982 downstr_intron 12 1.230769 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCTTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 226 152 1 1 1 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.00776992 0.1309439 0.9674205 0.9306431 NA 0.06935692 NA FALSE NA 0 -0.035 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AGG G,A 8.237e-06 17:50192982 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 1.782642 0.25043 0.06996 0.199473 0.9323468 0.312806 1 TRUE 4.0702e-06 ENSE00002380807_011 ENSE00002380807 011 17 48270302 48270471 - 53 54 63 G C 48270355 2454 117 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTGGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50192993 50192994 50192994 exon -1 1 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTGGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 608 359 0.9978137 0.9973475 0.9975806 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.0055836 0.1282914 0.9674205 0.9306431 NA 0.06693752 NA FALSE NA 0 -0.987 NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:50192994 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 splice_region_variant 1.701755 0.75737 0.03526 0.732398 0.8974034 0 1 TRUE 1.22159e-05 ENSE00002380807_012 ENSE00002380807 012 17 48270302 48270471 - 53 54 63 C T 48270360 2455 112 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCACTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50192998 50192999 50192999 exon -6 0.9074074 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCACTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant 19 54 0.9896259 0.9453616 0.9674937 281 136 1 0.9988353 0.9994177 0.9916665 0.9431745 0.9922301 0.8690561 -0.002040673 0.002187111 0.00776992 0.1297792 0.9674205 0.9306431 7.321869e-05 0.06877458 0.06870136 FALSE FALSE 0.006 0.444 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GCG C,T 8.237e-06 17:50192999 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 missense_variant 3.892409 0.95548 0.53184 0.732398 0.9831388 0 1 TRUE 1.22161e-05 ENSE00002380807_013 ENSE00002380807 013 17 48270302 48270471 - 53 54 63 G T 48270361 2456 111 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGAGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50192999 50193000 50193000 exon -7 0.8888889 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGAGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 84 400 0.9277484 1 0.9638742 0.9916665 0.9431745 0.9922301 0.8690561 NA NA -0.0644817 0.1309439 0.9674205 0.9306431 NA 0.03323111 NA FALSE NA 0 -2.502 NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:50193000 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 synonymous_variant 1.72714 0.90769 0.0989 0.732398 0.870092 0 1 TRUE 1.22177e-05 ENSE00002380807_017 ENSE00002380807 017 17 48270302 48270471 - 53 54 63 G A 48270373 2460 99 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCTGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193011 50193012 50193012 exon -19 0.6666667 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCTGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 1078 73 0.9959745 1 0.9979872 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.003744373 0.1309439 0.9674205 0.9306431 NA 0.06734414 NA FALSE NA 0 -0.86 rs148275339 downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs148275339 1 A:0.0080 A:0.0083 A:0.0144 NA A:0 A:0.0169 A:0.002 A:0.0041 A:0.011 CGG G,A 0.007858 17:50193012 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 synonymous_variant 2.080335 0.89797 0.02536 0.732398 0.9234729 0 1 TRUE 0.00759064 ENSE00002380807_018 ENSE00002380807 018 17 48270302 48270471 - 53 54 63 C T 48270383 2461 89 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCAAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193021 50193022 50193022 exon 26 0.4814815 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCAAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 124 15 0.9920297 1 0.9960148 0.9916665 0.9431745 0.9922301 0.8690561 NA NA -0.0002004247 0.1309439 0.9674205 0.9306431 NA 0.06537174 NA FALSE NA 0 0.663 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TCG C,T 8.236e-06 17:50193022 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 missense_variant 4.521291 0.94522 0.35591 0.732398 0.9981922 0 1 TRUE 8.15588e-06 ENSE00002380807_021 ENSE00002380807 021 17 48270302 48270471 - 53 54 63 T C 48270388 2464 84 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGGGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193026 50193027 50193027 exon 21 0.3888889 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGGGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 64 374 0.9483487 0.858459 0.9034038 0.9916665 0.9431745 0.9922301 0.8690561 NA NA -0.04388136 -0.01059713 0.9674205 0.9306431 NA -0.02723925 NA FALSE NA 0.95 0.25 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA CTC T,C 8.237e-06 17:50193027 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 synonymous_variant 0.368953 0.93134 0.69801 0.732398 0.7237852 0 1 TRUE 4.07937e-06 ENSE00002380807_022 ENSE00002380807 022 17 48270302 48270471 - 53 54 63 A T 48270391 2465 81 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCAGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193029 50193030 50193030 exon 18 0.3333333 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCAGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 170 459 1 1 1 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.00776992 0.1309439 0.9674205 0.9306431 NA 0.06935692 NA FALSE NA 0.852 0.824 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA CAG A,T 3.295e-05 17:50193030 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 synonymous_variant 0.795854 0.94238 0.77856 0.732398 0.9469121 0 1 TRUE 5.30422e-05 ENSE00002380807_023 ENSE00002380807 023 17 48270302 48270471 - 53 54 63 C A 48270393 2466 79 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGTCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193031 50193032 50193032 exon 16 0.2962963 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGTCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 60 22 0.9958105 1 0.9979053 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.003580469 0.1309439 0.9674205 0.9306431 NA 0.06726219 NA FALSE NA 0 -0.118 NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:50193032 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 missense_variant 3.615445 0.93842 0.35178 0.732398 0.9818006 0 1 TRUE 4.08347e-05 ENSE00002380807_025 ENSE00002380807 025 17 48270302 48270471 - 53 54 63 G A 48270400 2468 72 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCTGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193038 50193039 50193039 exon 9 0.1666667 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCTGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 595 84 0.9514254 0.9981125 0.974769 0.9916665 0.9431745 0.9922301 0.8690561 NA NA -0.04080463 0.1290565 0.9674205 0.9306431 NA 0.04412591 NA FALSE NA 0 -2.304 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 COSM1521769 1 NA CGG G,A 1.647e-05 17:50193039 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 synonymous_variant 2.121926 0.87412 0.03504 0.732398 0.9111923 0 1 TRUE 3.27043e-05 ENSE00002380807_027 ENSE00002380807 027 17 48270302 48270471 - 53 54 63 G A 48270416 2470 56 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTTTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193054 50193055 50193055 upstr_intron -8 -0.1111111 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTTTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 394 75 1 0.9893074 0.9946537 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.00776992 0.1202513 0.9674205 0.9306431 NA 0.06401062 NA FALSE NA 0 0.096 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs193922142 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0005 AGA G,A 0.000173 17:50193055 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 splice_region_variant 0.211248 0.27551 0.07058 0.199473 0.8329335 0.144625 1 TRUE 0.00015585 ENSE00002380807_029 ENSE00002380807 029 17 48270302 48270471 - 53 54 63 T G 48270426 2472 46 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTCACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193064 50193065 50193065 upstr_intron -18 -0.2698413 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTCACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 62 123 1 0.9636125 0.9818062 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.00776992 0.09455639 0.9674205 0.9306431 NA 0.05116315 NA FALSE NA 0 -0.564 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TTA T,G 8.237e-06 17:50193065 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.551364 0.20471 0.02482 0.199473 0.6816192 0.0946878 1 TRUE 4.11645e-06 ENSE00002380807_030 ENSE00002380807 030 17 48270302 48270471 - 53 54 63 G T 48270436 2473 36 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCACTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193074 50193075 50193075 upstr_intron -28 -0.4285714 AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCACTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 464 79 0.985177 1 0.9925885 0.9916665 0.9431745 0.9922301 0.8690561 NA NA -0.007053084 0.1309439 0.9674205 0.9306431 NA 0.06194541 NA FALSE NA 0.001 0.908 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs532923817 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGG G,T 8.238e-06 17:50193075 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.407414 0.53424 0.05455 0.199473 0.8871409 0.0875662 1 TRUE NA ENSE00002380807_031 ENSE00002380807 031 17 48270302 48270471 - 53 54 63 G C 48270442 2474 30 AGGCCCCAGGAGGCCCTGGCTTCTCACTTGAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193080 50193081 50193081 upstr_intron -34 -0.5238095 AGGCCCCAGGAGGCCCTGGCTTCTCACTTGAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 24 606 1 0.992902 0.996451 0.9916665 0.9431745 0.9922301 0.8690561 NA NA 0.00776992 0.1238459 0.9674205 0.9306431 NA 0.06580791 NA FALSE NA 0 -0.159 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TGA G,C 8.239e-06 17:50193081 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant 0.296273 0.30694 0.05206 0 0.7593323 0.0986472 1 TRUE 4.18648e-06 ENSE00002380807_033 ENSE00002380807 033 17 48270302 48270471 - 53 54 63 T C 48270446 2476 26 AGGCCCCAGGAGGCCCTGGCTTCTCGCTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 50193084 50193085 50193085 upstr_intron -38 -0.5873016 AGGCCCCAGGAGGCCCTGGCTTCTCGCTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT mutant NA NA NA NA NA 65 932 0.9914674 0.996192 0.9938297 0.9916665 0.9431745 0.9922301 0.8690561 NA NA -0.0007626729 0.1271359 0.9674205 0.9306431 NA 0.0631866 NA FALSE NA 0 -0.285 . downstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs561777872 1 NA GTG T,C 6.592e-05 17:50193085 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003497522 intron_variant -0.106494 0.1639 0.01571 0 0.4702121 0.0986472 1 TRUE 5.88334e-05 ENSE00002380807_BRK ENSE00002380807 BRK 17 48270302 48270471 - 53 54 63 A,G; T,T NA NA NA AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACTTGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCCCAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT 50192940 50193110 NA NA NA NA NA NA AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACTTGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCCCAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT AGGCCCCAGGAGGCCCTGGCTTCTCACTTCAGCCCCCTCAACCCTAACTCCCTTTCTCCACAGGGAGAGCCCGGCAAGGCTGGAGAGCGAGGTGTTCCCGGACCCCCTGGCGCTGTCGTAAGTATCTCCTTTCCATCCCTACCTCCTTCCCATTGCTGCCCCGGCACTTT control 77 100 0 0 0 382 101 0 0 0 0.9916665 0.9431745 0.9922301 0.8690561 -0.9916665 -0.9431745 -0.9922301 -0.8690561 0.9674205 0.9306431 -0.9674205 -0.9306431 0.03677742 TRUE TRUE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00003497522 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002381558_000 ENSE00002381558 000 7 141310951 141311120 + 44 93 33 NA NA NA NA NA TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGATCACATCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 NA NA NA NA NA NA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA natural 47 38 0.9880749 0.9959832 0.9920291 1591 1960 0.9990094 0.873941 0.9364752 0.9880749 0.9959832 0.9990094 0.873941 0 0 0 0 0.9920291 0.9364752 0 0 0 FALSE FALSE NA NA NA NA NA AGK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AGK NA NA NA ENSG00000006530 ENSE00003578945 NA NA NA NA NA NA NA 2.470684e-06 FALSE NA ENSE00002381558_005 ENSE00002381558 005 7 141310951 141311120 + 44 93 33 A G 141310988 2942 38 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGATCACATCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAACACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611187 141611188 141611188 upstr_intron -7 -0.1363636 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTGTTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 835 442 1 1 1 0.9880749 0.9959832 0.9990094 0.873941 NA NA 0.0009905843 0.126059 0.9920291 0.9364752 NA 0.06352481 NA FALSE NA 0.54 -0.246 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW AGK HGNC 21869 ENST00000465241 4/6 1 NA TAT A,G 8.236e-06 7:141611188 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 splice_region_variant 1.333279 0.93588 0.23122 0.163922 0.753214 0.333392 2.470684e-06 FALSE 4.09242e-06 ENSE00002381558_008 ENSE00002381558 008 7 141310951 141311120 + 44 93 33 A C 141311030 2945 80 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGATCACATCCGTGTTTTCCATCAGGTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611229 141611230 141611230 exon 36 0.3870968 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGACCTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 92 55 1 1 1 0.9880749 0.9959832 0.9990094 0.873941 NA NA 0.0009905843 0.126059 0.9920291 0.9364752 NA 0.06352481 NA FALSE NA 0.076 -0.14 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 1 NA AAC A,C 8.236e-06 7:141611230 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 missense_variant 1.636734 0.87645 0.15347 0.732398 0.9918083 0 2.470684e-06 FALSE 4.066e-06 ENSE00002381558_010 ENSE00002381558 010 7 141310951 141311120 + 44 93 33 C T 141311031 2947 81 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGATCACATCCGTGTTTTCCATCAATTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611230 141611231 141611231 exon 37 0.3978495 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAATTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 445 415 0.9988849 1 0.9994425 0.9880749 0.9959832 0.9990094 0.873941 NA NA -0.0001244866 0.126059 0.9920291 0.9364752 NA 0.06296727 NA FALSE NA 0.069 -0.06 NA NA NA AGK NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:141611231 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 synonymous_variant 1.326565 0.84903 0.06404 0.732398 0.6756749 0 2.470684e-06 FALSE 4.0662e-06 ENSE00002381558_011 ENSE00002381558 011 7 141310951 141311120 + 44 93 33 C T 141311044 2948 94 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGATCACATCCATGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611243 141611244 141611244 exon -44 0.5376344 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACATGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 597 397 0.9931155 0.9963724 0.994744 0.9880749 0.9959832 0.9990094 0.873941 NA NA -0.005893873 0.1224314 0.9920291 0.9364752 NA 0.05826878 NA FALSE NA 1 4.89 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 COSM1731152 1 NA ACG C,T 1.647e-05 7:141611244 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 missense_variant 7.216101 0.99343 0.96376 0.732398 0.9991298 0 2.470684e-06 FALSE 1.22004e-05 ENSE00002381558_012 ENSE00002381558 012 7 141310951 141311120 + 44 93 33 G A 141311045 2949 95 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGATCACATCTGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611244 141611245 141611245 exon -43 0.5483871 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACAGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 328 112 1 1 1 0.9880749 0.9959832 0.9990094 0.873941 NA NA 0.0009905843 0.126059 0.9920291 0.9364752 NA 0.06352481 NA FALSE NA 0.19 -0.609 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 1 NA CGG G,A 1.647e-05 7:141611245 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 synonymous_variant 1.913078 0.95901 0.03154 0.732398 0.5811644 0 2.470684e-06 FALSE 2.03303e-05 ENSE00002381558_013 ENSE00002381558 013 7 141310951 141311120 + 44 93 33 A G 141311047 2950 97 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGATCACACCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611246 141611247 141611247 exon -41 0.5698925 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGGTGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 503 93 0.9948588 0.9982956 0.9965772 0.9880749 0.9959832 0.9990094 0.873941 NA NA -0.004150625 0.1243546 0.9920291 0.9364752 NA 0.06010201 NA FALSE NA 1 7.826 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 rs548829121 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GAT A,G 6.589e-05 7:141611247 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 missense_variant 6.517807 0.99135 0.98319 0.732398 0.9986237 0 2.470684e-06 FALSE 5.69166e-05 ENSE00002381558_014 ENSE00002381558 014 7 141310951 141311120 + 44 93 33 A G 141311052 2951 102 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGACCACATCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611251 141611252 141611252 exon -36 0.6236559 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGGTCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 97 263 1 0.9998552 0.9999276 0.9880749 0.9959832 0.9990094 0.873941 NA NA 0.0009905843 0.1259142 0.9920291 0.9364752 NA 0.06345239 NA FALSE NA 1 2.914 rs180770509 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 rs180770509 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GAT A,G 8.236e-06 7:141611252 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 missense_variant 1.349114 0.98071 0.86647 0.732398 0.988842 0 2.470684e-06 FALSE 4.0655e-06 ENSE00002381558_015 ENSE00002381558 015 7 141310951 141311120 + 44 93 33 C T 141311054 2952 104 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATAATCACATCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611253 141611254 141611254 exon -34 0.6451613 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATTATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 119 207 1 0.9966205 0.9983103 0.9880749 0.9959832 0.9990094 0.873941 NA NA 0.0009905843 0.1226796 0.9920291 0.9364752 NA 0.06183508 NA FALSE NA 1 2.242 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 1 NA TCA C,T 1.647e-05 7:141611254 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 synonymous_variant 1.777141 0.98361 0.90405 0.732398 0.7735021 0 2.470684e-06 FALSE 8.13299e-06 ENSE00002381558_016 ENSE00002381558 016 7 141310951 141311120 + 44 93 33 A G 141311055 2953 105 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAACGATCACATCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611254 141611255 141611255 exon -33 0.655914 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCGTTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 192 149 1 0.9955363 0.9977682 0.9880749 0.9959832 0.9990094 0.873941 NA NA 0.0009905843 0.1215954 0.9920291 0.9364752 NA 0.06129297 NA FALSE NA 1 6.031 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 1 NA CAT A,G 2.471e-05 7:141611255 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 missense_variant 1.977626 0.99135 0.97965 0.732398 0.9942253 0 2.470684e-06 FALSE 1.22e-05 ENSE00002381558_017 ENSE00002381558 017 7 141310951 141311120 + 44 93 33 G A 141311067 2954 117 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTGTCCCATCTCTTCCTGCAACAATGATCACATCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611266 141611267 141611267 exon -21 0.7849462 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAAGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 311 102 1 1 1 0.9880749 0.9959832 0.9990094 0.873941 NA NA 0.0009905843 0.126059 0.9920291 0.9364752 NA 0.06352481 NA FALSE NA 1 8.209 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 1 NA AGG G,A 8.236e-06 7:141611267 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 missense_variant 6.643068 0.99322 0.98875 0.732398 0.9993931 0 2.470684e-06 FALSE 4.06798e-06 ENSE00002381558_019 ENSE00002381558 019 7 141310951 141311120 + 44 93 33 C T 141311077 2956 127 TCAAAATAGCTTCAAAGAGAAAAACAGTCATACCTCCTGCAGTATCCCATCTCCTCCTGCAACAATGATCACATCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611276 141611277 141611277 exon -11 0.8924731 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGATACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 636 140 1 1 1 0.9880749 0.9959832 0.9990094 0.873941 NA NA 0.0009905843 0.126059 0.9920291 0.9364752 NA 0.06352481 NA FALSE NA 1 6.523 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AGK HGNC 21869 ENST00000465241 5/7 1 NA ACA C,T 8.236e-06 7:141611277 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 missense_variant 6.795659 0.99301 0.98268 0.732398 0.998916 0 2.470684e-06 FALSE 8.14153e-06 ENSE00002381558_021 ENSE00002381558 021 7 141310951 141311120 + 44 93 33 T A 141311091 2958 141 TCAAAATAGCTTCAAAGAGAAAAACAGTCTTACCTCCTGCAGTGTCCCATCTCCTCCTGCAACAATGATCACATCCGTGTTTTCCATCAGTTCCAGGAGTTTCTTGGCTTGTCCCTCATAATCTGTCTGAAATACCAAGGAAGCCTTTGGTGAGTTTATCAACCTAGAGC 141611150 141611320 141611290 141611291 141611291 downstr_intron 4 1.125 GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTAAGACTGTTTTTCTCTTTGAAGCTATTTTGA GCTCTAGGTTGATAAACTCACCAAAGGCTTCCTTGGTATTTCAGACAGATTATGAGGGACAAGCCAAGAAACTCCTGGAACTGATGGAAAACACGGATGTGATCATTGTTGCAGGAGGAGATGGGACACTGCAGGAGGTATGACTGTTTTTCTCTTTGAAGCTATTTTGA mutant NA NA NA NA NA 201 151 0.9590631 1 0.9795315 0.9880749 0.9959832 0.9990094 0.873941 NA NA -0.03994633 0.126059 0.9920291 0.9364752 NA 0.04305635 NA FALSE NA 0.239 -0.244 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW AGK HGNC 21869 ENST00000465241 5/6 1 NA ATG T,A 8.237e-06 7:141611291 AGK HGNC Symbol protein_coding 104055 ENSG00000006530 ENSE00003578945 splice_region_variant 1.471238 0.40602 0.31743 0.163922 0.7448969 0.205258 2.470684e-06 FALSE 8.25546e-06 ENSE00002381640_000 ENSE00002381640 000 5 169472775 169472944 + 45 90 35 NA NA NA NA NA TGCAGGGCATTCAGCCTTCCCAGGGGATGCCTTACCAGGTTCTGGCTGAGCAGCTCATAGTCAAAGATCTCCATCTCGTACTGTTCCGCCAGCTCCTTGCACAGACTTATGGCCTCTTCCCACATCTACAGGAAGGTCACAGGGACAAAGGTGAGGTGGCACCACCGGGT 170045770 170045940 NA NA NA NA NA NA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA natural NA NA NA NA NA 1827 712 0.8370281 0.8381814 0.8376048 NA NA 0.8370281 0.8381814 NA NA 0 0 NA 0.8376048 NA 0 NA FALSE NA NA NA NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003650131 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002381640_005 ENSE00002381640 005 5 169472775 169472944 + 45 90 35 G A 169472831 2183 57 TGCAGGGCATTCAGCCTTCCCAGGGGATGCCTTACCAGGTTCTGGCTGAGCAGCTCATAGTCAAAGATCTCCATCTCGTACTGTTCCGCCAGCTCCTTGCACAGACTTATGGCTTCTTCCCACATCTACAGGAAGGTCACAGGGACAAAGGTGAGGTGGCACCACCGGGT 170045770 170045940 170045826 170045827 170045827 exon 12 0.1333333 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAAGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA mutant NA NA NA NA NA 20 283 1 1 1 NA NA 0.8370281 0.8381814 NA NA 0.1629719 0.1618186 NA 0.8376048 NA 0.1623952 NA FALSE NA 1 1.393 rs140468355 synonymous_variant LOW DOCK2 HGNC 2988 ENST00000540750 25/38 rs140468355 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 AGG G,A 7.413e-05 5:170045827 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003650131 synonymous_variant 0.781874 0.97522 0.81393 0.67177 0.6299302 0 0.9999999 TRUE 4.47024e-05 ENSE00002381640_006 ENSE00002381640 006 5 169472775 169472944 + 45 90 35 G A 169472843 2184 69 TGCAGGGCATTCAGCCTTCCCAGGGGATGCCTTACCAGGTTCTGGCTGAGCAGCTCATAGTCAAAGATCTCCATCTCGTACTGTTCCGCCAGCTCCTTGCATAGACTTATGGCCTCTTCCCACATCTACAGGAAGGTCACAGGGACAAAGGTGAGGTGGCACCACCGGGT 170045770 170045940 170045838 170045839 170045839 exon 24 0.2666667 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTATGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA mutant NA NA NA NA NA 231 20 0.9911888 1 0.9955944 NA NA 0.8370281 0.8381814 NA NA 0.1541607 0.1618186 NA 0.8376048 NA 0.1579897 NA FALSE NA 1 3.618 . synonymous_variant LOW DOCK2 HGNC 2988 ENST00000540750 25/38 1 NA TGT G,A 2.471e-05 5:170045839 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003650131 synonymous_variant 1.148484 0.98408 0.91834 0.67177 0.7968544 0 0.9999999 TRUE 1.21912e-05 ENSE00002381640_007 ENSE00002381640 007 5 169472775 169472944 + 45 90 35 C T 169472857 2185 83 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGTGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA 170045770 170045940 170045852 170045853 170045853 exon 38 0.4222222 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGTGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA mutant NA NA NA NA NA 732 46 0.9989595 0.9965462 0.9977528 NA NA 0.8370281 0.8381814 NA NA 0.1619313 0.1583648 NA 0.8376048 NA 0.1601481 NA FALSE NA 1 4.881 . missense_variant MODERATE DOCK2 HGNC 2988 ENST00000540750 25/38 rs370316549&COSM207890 1 benign(0.104) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 GCG C,T 4.118e-05 5:170045853 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003650131 missense_variant 4.21719 0.99094 0.95587 0.67177 0.9979655 0 0.9999999 TRUE 2.43879e-05 ENSE00002381640_009 ENSE00002381640 009 5 169472775 169472944 + 45 90 35 C T 169472867 2187 93 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTATGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA 170045770 170045940 170045862 170045863 170045863 exon -43 0.5333333 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTATGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA mutant NA NA NA NA NA 33 71 0.95 0.9737831 0.9618916 NA NA 0.8370281 0.8381814 NA NA 0.1129719 0.1356017 NA 0.8376048 NA 0.1242868 NA FALSE NA 0.657 -0.341 . synonymous_variant LOW DOCK2 HGNC 2988 ENST00000540750 25/38 1 NA ACG C,T 6.589e-05 5:170045863 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003650131 synonymous_variant 1.670181 0.96485 0.15845 0.67177 0.4875565 0 0.9999999 TRUE 8.12988e-05 ENSE00002381640_014 ENSE00002381640 014 5 169472775 169472944 + 45 90 35 A G 169472898 2192 124 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCGGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA 170045770 170045940 170045893 170045894 170045894 exon -12 0.8777778 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCGGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA mutant NA NA NA NA NA 447 30 0.999657 0.9050573 0.9523571 NA NA 0.8370281 0.8381814 NA NA 0.1626289 0.0668759 NA 0.8376048 NA 0.1147524 NA FALSE NA 1 7.215 . missense_variant MODERATE DOCK2 HGNC 2988 ENST00000540750 25/38 1 benign(0.029) NA CAG A,G 3.295e-05 5:170045894 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003650131 missense_variant 2.620635 0.98761 0.97115 0.67177 0.9893177 0 0.9999999 TRUE 2.44002e-05 ENSE00002381640_017 ENSE00002381640 017 5 169472775 169472944 + 45 90 35 C G 169472916 2195 142 TGCAGGGCATTCAGCCTTCCCAGGGGATCCCTTACCAGGTTCTGGCTGAGCAGCTCATAGTCAAAGATCTCCATCTCGTACTGTTCCGCCAGCTCCTTGCACAGACTTATGGCCTCTTCCCACATCTACAGGAAGGTCACAGGGACAAAGGTGAGGTGGCACCACCGGGT 170045770 170045940 170045911 170045912 170045912 downstr_intron 7 1.205882 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGGATCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA mutant NA NA NA NA NA 824 348 0.9573495 0.9428975 0.9501235 NA NA 0.8370281 0.8381814 NA NA 0.1203214 0.1047161 NA 0.8376048 NA 0.1125187 NA FALSE NA 0 -1.238 . splice_region_variant&intron_variant LOW DOCK2 HGNC 2988 ENST00000540750 25/37 1 NA GCA C,G 8.236e-06 5:170045912 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003650131 splice_region_variant 1.339685 0.18716 0.02617 0.067858 0.7913833 0.230121 0.9999999 TRUE 2.03424e-05 ENSE00002381640_018 ENSE00002381640 018 5 169472775 169472944 + 45 90 35 T C 169472918 2196 144 TGCAGGGCATTCAGCCTTCCCAGGGGGTGCCTTACCAGGTTCTGGCTGAGCAGCTCATAGTCAAAGATCTCCATCTCGTACTGTTCCGCCAGCTCCTTGCACAGACTTATGGCCTCTTCCCACATCTACAGGAAGGTCACAGGGACAAAGGTGAGGTGGCACCACCGGGT 170045770 170045940 170045913 170045914 170045914 downstr_intron 9 1.264706 ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCACCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA mutant NA NA NA NA NA 268 269 0.9928433 0.9966652 0.9947542 NA NA 0.8370281 0.8381814 NA NA 0.1558151 0.1584838 NA 0.8376048 NA 0.1571495 NA FALSE NA 0 -0.11 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 25/37 1 NA ATC T,C 2.471e-05 5:170045914 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003650131 intron_variant 0.081875 0.14397 0.01343 0.067858 0.539348 0.119479 0.9999999 TRUE 1.22058e-05 ENSE00002381640_BRK ENSE00002381640 BRK 5 169472775 169472944 + 45 90 35 A,G; T,T NA NA NA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTTTATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGCCAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA 170045770 170045940 NA NA NA NA NA NA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTTTATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGCCAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA ACCCGGTGGTGCCACCTCACCTTTGTCCCTGTGACCTTCCTGTAGATGTGGGAAGAGGCCATAAGTCTGTGCAAGGAGCTGGCGGAACAGTACGAGATGGAGATCTTTGACTATGAGCTGCTCAGCCAGAACCTGGTAAGGCATCCCCTGGGAAGGCTGAATGCCCTGCA control 13 31 0 0 0 NA NA NA NA NA NA NA 0.8370281 0.8381814 NA NA NA NA NA 0.8376048 NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003650131 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002382210_000 ENSE00002382210 000 2 232126975 232127144 + 44 93 33 NA NA NA NA NA TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 NA NA NA NA NA NA TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG natural 98 21 0.915682 0.9960268 0.9558544 1520 1138 0.985284 0.9952452 0.9902646 0.915682 0.9960268 0.985284 0.9952452 0 0 0 0 0.9558544 0.9902646 0 0 0 FALSE FALSE NA NA NA NA NA ARMC9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARMC9 NA NA NA ENSG00000135931 ENSE00003583978 NA NA NA NA NA NA NA 1.030243e-08 FALSE NA ENSE00002382210_001 ENSE00002382210 001 2 232126975 232127144 + 44 93 33 A T 232126986 5247 12 TGATAAGACTTTGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262272 231262273 231262273 upstr_intron -33 -0.7272727 TGATAAGACTTTGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 151 376 0.9977991 0.9910626 0.9944308 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01251505 -0.004182564 0.9558544 0.9902646 NA 0.004166244 NA FALSE NA 0 -1.526 . intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 11/20 1 NA TAG A,T 1.647e-05 2:231262273 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant -0.102033 0.10782 0.01537 0.162113 0.6494232 0.158106 1.030243e-08 FALSE 8.1248e-06 ENSE00002382210_002 ENSE00002382210 002 2 232126975 232127144 + 44 93 33 G A 232126988 5248 14 TGATAAGACTTAGATCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262274 231262275 231262275 upstr_intron -31 -0.6818182 TGATAAGACTTAGATCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 245 1325 0.9943221 0.9991636 0.9967428 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.009038087 0.003918374 0.9558544 0.9902646 NA 0.00647823 NA FALSE NA 0 -0.542 . intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 11/20 1 NA GGT G,A 8.236e-06 2:231262275 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant 0.097464 0.12629 0.01502 0.162113 0.6703791 0.158106 1.030243e-08 FALSE 8.1244e-06 ENSE00002382210_003 ENSE00002382210 003 2 232126975 232127144 + 44 93 33 C T 232126990 5249 16 TGATAAGACTTAGGTTTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262276 231262277 231262277 upstr_intron -29 -0.6363636 TGATAAGACTTAGGTTTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 376 371 1 1 1 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 0.004754816 0.9558544 0.9902646 NA 0.009735401 NA FALSE NA 0.005 0.143 . intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 11/20 1 NA TCT C,T 8.236e-06 2:231262277 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant 0.122561 0.12633 0.01838 0.162113 0.6584264 0.158106 1.030243e-08 FALSE 8.1242e-06 ENSE00002382210_005 ENSE00002382210 005 2 232126975 232127144 + 44 93 33 T C 232127000 5251 26 TGATAAGACTTAGGTCTCACTACTTCTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262286 231262287 231262287 upstr_intron -19 -0.4090909 TGATAAGACTTAGGTCTCACTACTTCTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 515 551 1 0.9970385 0.9985192 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 0.001793281 0.9558544 0.9902646 NA 0.008254634 NA FALSE NA 0.004 0.753 . intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 11/20 1 NA TTT T,C 8.236e-06 2:231262287 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant -0.180953 0.15412 0.01619 0.162113 0.6135694 0.168761 1.030243e-08 FALSE 4.06151e-06 ENSE00002382210_006 ENSE00002382210 006 2 232126975 232127144 + 44 93 33 T C 232127003 5252 29 TGATAAGACTTAGGTCTCACTACTTTTGCTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262289 231262290 231262290 upstr_intron -16 -0.3409091 TGATAAGACTTAGGTCTCACTACTTTTGCTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 47 49 0.9991211 1 0.9995605 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01383708 0.004754816 0.9558544 0.9902646 NA 0.009295947 NA FALSE NA 0.011 0.576 . intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 11/20 1 NA GTT T,C 1.647e-05 2:231262290 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant -0.298573 0.17825 0.01364 0.162113 0.5755574 0.168761 1.030243e-08 FALSE 2.0308e-05 ENSE00002382210_007 ENSE00002382210 007 2 232126975 232127144 + 44 93 33 T G 232127007 5253 33 TGATAAGACTTAGGTCTCACTACTTTTGTTTTGCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262293 231262294 231262294 upstr_intron -12 -0.25 TGATAAGACTTAGGTCTCACTACTTTTGTTTTGCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 942 212 1 1 1 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 0.004754816 0.9558544 0.9902646 NA 0.009735401 NA FALSE NA 0 -0.447 rs149131547 intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 11/20 rs149131547 1 G:0.0036 G:0.0129 G:0.0014 NA G:0 G:0 G:0 G:0.007 G:0.0001 TTC T,G 0.0007495 2:231262294 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant 0.125273 0.28609 0.06539 0.162113 0.5472021 0.245171 1.030243e-08 FALSE 0.000503615 ENSE00002382210_008 ENSE00002382210 008 2 232126975 232127144 + 44 93 33 C A 232127008 5254 34 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTATTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262294 231262295 231262295 upstr_intron -11 -0.2272727 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTATTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 471 141 0.9993868 0.9988767 0.9991317 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01410276 0.003631507 0.9558544 0.9902646 NA 0.008867131 NA FALSE NA 0 0.159 rs143246870 intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 11/20 rs143246870 1 A:0.0036 A:0.0129 A:0.0014 NA A:0 A:0 A:0 A:0.0082 A:0.0001 TCT C,A 0.0007495 2:231262295 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant 0.10633 0.21742 0.0433 0.162113 0.4530674 0.238903 1.030243e-08 FALSE 0.000503664 ENSE00002382210_009 ENSE00002382210 009 2 232126975 232127144 + 44 93 33 T A 232127009 5255 35 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCATTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262295 231262296 231262296 upstr_intron -10 -0.2045455 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCATTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 2092 776 0.9971659 0.9988508 0.9980084 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01188187 0.003605652 0.9558544 0.9902646 NA 0.007743763 NA FALSE NA 0.005 0.66 . intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 11/20 1 NA CTT T,A 8.236e-06 2:231262296 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant -0.195419 0.19163 0.12298 0.162113 0.4927655 0.249113 1.030243e-08 FALSE 4.06147e-06 ENSE00002382210_010 ENSE00002382210 010 2 232126975 232127144 + 44 93 33 T C 232127014 5256 40 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCCCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262300 231262301 231262301 upstr_intron -5 -0.09090909 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCCCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 592 432 0.9997411 0.9992032 0.9994721 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01445704 0.003958004 0.9558544 0.9902646 NA 0.009207521 NA FALSE NA 0 0.146 . splice_region_variant&intron_variant LOW ARMC9 HGNC 20730 ENST00000349938 11/20 1 NA CTC T,C 8.236e-06 2:231262301 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 splice_region_variant -0.113801 0.1583 0.04 0.162113 0.6162228 0.380056 1.030243e-08 FALSE 4.06085e-06 ENSE00002382210_011 ENSE00002382210 011 2 232126975 232127144 + 44 93 33 C T 232127019 5257 45 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGTGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262305 231262306 231262306 exon 1 0.01075269 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGTGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 922 295 0.8619065 0.9998709 0.9308887 0.915682 0.9960268 0.985284 0.9952452 NA NA -0.1233775 0.004625706 0.9558544 0.9902646 NA -0.05937589 NA FALSE NA 1 3.599 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:231262306 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 missense_variant 7.406476 0.97293 0.95094 0.732398 0.9992851 0 1.030243e-08 FALSE 5.27932e-05 ENSE00002382210_012 ENSE00002382210 012 2 232126975 232127144 + 44 93 33 C A 232127019 5258 45 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGAGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262305 231262306 231262306 exon 1 0.01075269 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGAGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 173 390 1 0.997559 0.9987795 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 0.002313857 0.9558544 0.9902646 NA 0.008514922 NA FALSE NA 1 3.599 NA NA NA ARMC9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARMC9 NA NA NA ENSG00000135931 ENSE00003583978 missense_variant 7.117219 0.96437 0.78747 0.732398 0.9977904 0 1.030243e-08 FALSE 4.06101e-06 ENSE00002382210_013 ENSE00002382210 013 2 232126975 232127144 + 44 93 33 G A 232127020 5259 46 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCACTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262306 231262307 231262307 exon 2 0.02150538 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCACTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 195 1380 1 0.9999724 0.9999862 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 0.004727234 0.9558544 0.9902646 NA 0.00972161 NA FALSE NA 1 7.998 . missense_variant&splice_region_variant MODERATE ARMC9 HGNC 20730 ENST00000349938 12/21 1 deleterious(0) probably_damaging(0.998) NA CGC G,A 1.647e-05 2:231262307 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 missense_variant 7.12032 0.98997 0.99258 0.732398 0.9992385 0 1.030243e-08 FALSE 2.03041e-05 ENSE00002382210_014 ENSE00002382210 014 2 232126975 232127144 + 44 93 33 G A 232127040 5260 66 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTAGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262326 231262327 231262327 exon 22 0.2365591 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTAGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 292 1261 1 0.9954839 0.997742 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 0.0002387532 0.9558544 0.9902646 NA 0.00747737 NA FALSE NA 1 8.223 . missense_variant MODERATE ARMC9 HGNC 20730 ENST00000349938 12/21 1 deleterious(0.01) possibly_damaging(0.6) NA TGG G,A 8.236e-06 2:231262327 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 missense_variant 5.593574 0.98477 0.96861 0.732398 0.9990497 0 1.030243e-08 FALSE 8.12123e-06 ENSE00002382210_015 ENSE00002382210 015 2 232126975 232127144 + 44 93 33 G A 232127045 5261 71 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAACAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262331 231262332 231262332 exon 27 0.2903226 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAACAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 176 279 0.9884516 0.9884424 0.988447 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.003167592 -0.006802794 0.9558544 0.9902646 NA -0.001817601 NA FALSE NA 1 3.388 . synonymous_variant LOW ARMC9 HGNC 20730 ENST00000349938 12/21 1 NA AGC G,A 3.295e-05 2:231262332 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 synonymous_variant 0.943077 0.9755 0.85172 0.732398 0.6103956 0 1.030243e-08 FALSE 1.62427e-05 ENSE00002382210_016 ENSE00002382210 016 2 232126975 232127144 + 44 93 33 G A 232127051 5262 77 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGAGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262337 231262338 231262338 exon 33 0.3548387 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGAGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 68 207 1 0.9904858 0.9952429 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 -0.004759417 0.9558544 0.9902646 NA 0.004978285 NA FALSE NA 1 0.856 . synonymous_variant LOW ARMC9 HGNC 20730 ENST00000349938 12/21 1 NA GGG G,A 8.236e-06 2:231262338 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 synonymous_variant 1.208992 0.96522 0.66338 0.732398 0.6777501 0 1.030243e-08 FALSE 4.06058e-06 ENSE00002382210_017 ENSE00002382210 017 2 232126975 232127144 + 44 93 33 C T 232127057 5263 83 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACTGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262343 231262344 231262344 exon 39 0.4193548 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACTGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 34 132 1 1 1 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 0.004754816 0.9558544 0.9902646 NA 0.009735401 NA FALSE NA 0 -3.291 . synonymous_variant LOW ARMC9 HGNC 20730 ENST00000349938 12/21 rs569365795 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 0.0001318 2:231262344 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 synonymous_variant 2.093268 0.30969 0.01678 0.732398 0.4458101 0 1.030243e-08 FALSE 8.12137e-05 ENSE00002382210_019 ENSE00002382210 019 2 232126975 232127144 + 44 93 33 A G 232127071 5265 97 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTGCATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262357 231262358 231262358 exon -41 0.5698925 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTGCATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 2012 1245 0.9999795 0.9991395 0.9995595 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01469553 0.003894301 0.9558544 0.9902646 NA 0.009294916 NA FALSE NA 1 4.668 . missense_variant MODERATE ARMC9 HGNC 20730 ENST00000349938 12/21 rs369080231 1 deleterious(0) possibly_damaging(0.878) NA G:0 G:0.0001 TAC A,G 4.118e-05 2:231262358 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 missense_variant 5.199293 0.96282 0.88454 0.732398 0.9979645 0 1.030243e-08 FALSE 3.65458e-05 ENSE00002382210_020 ENSE00002382210 020 2 232126975 232127144 + 44 93 33 A G 232127073 5266 99 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACGTCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262359 231262360 231262360 exon -39 0.5913978 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACGTCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 221 253 1 1 1 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01471599 0.004754816 0.9558544 0.9902646 NA 0.009735401 NA FALSE NA 1 2.694 . missense_variant MODERATE ARMC9 HGNC 20730 ENST00000349938 12/21 COSM3407650&COSM3407651 1 tolerated(0.11) benign(0.011) NA CAT A,G 8.236e-06 2:231262360 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 missense_variant 1.373647 0.96246 0.80645 0.732398 0.9982143 0 1.030243e-08 FALSE 4.06058e-06 ENSE00002382210_023 ENSE00002382210 023 2 232126975 232127144 + 44 93 33 T A 232127086 5269 112 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCACTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262372 231262373 231262373 exon -26 0.7311828 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCACTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 1364 441 0.9984205 0.9996412 0.9990308 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.01313644 0.004396025 0.9558544 0.9902646 NA 0.008766233 NA FALSE NA 1 6.717 . missense_variant MODERATE ARMC9 HGNC 20730 ENST00000349938 12/21 1 deleterious(0) probably_damaging(0.956) NA CTC T,A 8.236e-06 2:231262373 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 missense_variant 5.742594 0.9825 0.95517 0.732398 0.9850105 0 1.030243e-08 FALSE 4.06065e-06 ENSE00002382210_024 ENSE00002382210 024 2 232126975 232127144 + 44 93 33 T C 232127099 5270 125 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTACAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262385 231262386 231262386 exon -13 0.8709677 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTACAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 515 12 0.9966037 1 0.9983019 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.0113197 0.004754816 0.9558544 0.9902646 NA 0.008037259 NA FALSE NA 0.992 0.211 . synonymous_variant LOW ARMC9 HGNC 20730 ENST00000349938 12/21 1 NA ATA T,C 8.236e-06 2:231262386 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 synonymous_variant -0.605657 0.92132 0.10855 0.732398 0.3179404 0 1.030243e-08 FALSE 1.62425e-05 ENSE00002382210_025 ENSE00002382210 025 2 232126975 232127144 + 44 93 33 A G 232127107 5271 133 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAGCCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG 231262261 231262431 231262393 231262394 231262394 exon -5 0.9569892 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAGCCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 855 1360 0.9448813 0.9984459 0.9716636 0.915682 0.9960268 0.985284 0.9952452 NA NA -0.04040269 0.003200748 0.9558544 0.9902646 NA -0.01860097 NA FALSE NA 0.035 0.616 . missense_variant MODERATE ARMC9 HGNC 20730 ENST00000349938 12/21 1 tolerated(0.86) benign(0.002) NA AAC A,G 8.236e-06 2:231262394 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 missense_variant 0.415215 0.93781 0.03048 0.732398 0.9204318 0 1.030243e-08 FALSE 4.06088e-06 ENSE00002382210_026 ENSE00002382210 026 2 232126975 232127144 + 44 93 33 G A 232127127 5272 153 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGAGCCAGATCCCAGCCAGG 231262261 231262431 231262413 231262414 231262414 downstr_intron 16 1.5 TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGAGCCAGATCCCAGCCAGG TGATAAGACTTAGGTCTCACTACTTTTGTTTTTCTTTGCTCCAGCGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTACATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAGGTTGGTAAGAGGTGGGGCCAGATCCCAGCCAGG mutant NA NA NA NA NA 791 464 0.9977411 0.9869562 0.9923486 0.915682 0.9960268 0.985284 0.9952452 NA NA 0.0124571 -0.008289024 0.9558544 0.9902646 NA 0.002084041 NA FALSE NA 0.099 1.131 . intron_variant MODIFIER ARMC9 HGNC 20730 ENST00000349938 12/20 rs370808208 1 NA A:0 A:0.0007 GGG G,A 0.0001812 2:231262414 ARMC9 HGNC Symbol protein_coding 176291 ENSG00000135931 ENSE00003583978 intron_variant -0.089137 0.20575 0.02246 0.088506 0.5466113 0.217566 1.030243e-08 FALSE 0.000203122 ENSE00002382591_000 ENSE00002382591 000 3 107886596 107886765 - 44 72 54 NA NA NA NA NA AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 NA NA NA NA NA NA AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT natural 57 86 0.9709431 0.938709 0.954826 15532 10644 0.9692732 0.8727097 0.9209915 0.9709431 0.938709 0.9692732 0.8727097 0 0 0 0 0.954826 0.9209915 0 0 0 FALSE FALSE NA NA NA NA NA IFT57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IFT57 NA NA NA ENSG00000114446 ENSE00003484415 NA NA NA NA NA NA NA 4.079457e-06 FALSE NA ENSE00002382591_003 ENSE00002382591 003 3 107886596 107886765 - 44 72 54 C T 107886611 2253 155 AGATGAGTAAATGTATATTGATTCACGTAAAGTAATTCATATACCTTGGTCTCCTTTAGAGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGAGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167763 108167764 108167764 downstr_intron 29 1.674419 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATATACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 540 626 1 0.974426 0.987213 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.03072679 0.1017163 0.954826 0.9209915 NA 0.06622154 NA FALSE NA 0 0.239 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs373169847 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0002 ACA C,T 0.0001236 3:108167764 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant 0.00893 0.12216 0.00197 0.164513 0.5550352 0.0481801 4.079457e-06 FALSE 0.000124949 ENSE00002382591_004 ENSE00002382591 004 3 107886596 107886765 - 44 72 54 T C 107886613 2254 153 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAGTGTACATTTACTCATCT 108167748 108167918 108167765 108167766 108167766 downstr_intron 27 1.627907 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAGTGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 345 18 0.9995555 1 0.9997778 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.03028232 0.1272903 0.954826 0.9209915 NA 0.07878629 NA FALSE NA 0 -0.974 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA ATT T,C 8.239e-06 3:108167766 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -0.30144 0.1338 0.01838 0.164513 0.3987543 0.0481801 4.079457e-06 FALSE NA ENSE00002382591_005 ENSE00002382591 005 3 107886596 107886765 - 44 72 54 A G 107886616 2255 150 AGATGAGTAAATGTACATTGGTTCACGTAAAGTAATTCATATACCTTGGTCTCCTTTAGAGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGAGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167768 108167769 108167769 downstr_intron 24 1.55814 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAACCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 1191 398 0.9860783 0.9950404 0.9905594 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.01680506 0.1223307 0.954826 0.9209915 NA 0.06956788 NA FALSE NA 0 0.106 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA GAT A,G 8.239e-06 3:108167769 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -0.03627 0.2494 0.11115 0.164513 0.6140507 0.0481801 4.079457e-06 FALSE 4.91719e-06 ENSE00002382591_006 ENSE00002382591 006 3 107886596 107886765 - 44 72 54 C T 107886621 2256 145 AGATGAGTAAATGTACATTGATTCATGTAAAGTAATTCATATACCTTGGTCTCCTTTAGAGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGAGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167773 108167774 108167774 downstr_intron 19 1.44186 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACATGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 364 770 0.9599956 0.9990053 0.9795005 0.9709431 0.938709 0.9692732 0.8727097 NA NA -0.009277625 0.1262956 0.954826 0.9209915 NA 0.05850899 NA FALSE NA 0 -0.289 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs201419075 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 T:0.0002 T:0 ACG C,T 0.000552 3:108167774 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -0.166602 0.10418 0.00206 0.164513 0.4209406 0.0481801 4.079457e-06 FALSE 0.000492998 ENSE00002382591_007 ENSE00002382591 007 3 107886596 107886765 - 44 72 54 G A 107886622 2257 144 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTATGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167774 108167775 108167775 downstr_intron 18 1.418605 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTATGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 73 1078 0.997322 0.9921436 0.9947328 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.02804883 0.1194339 0.954826 0.9209915 NA 0.07374136 NA FALSE NA 0.001 0.107 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA CGT G,A 0.000173 3:108167775 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -0.111114 0.20009 0.0136 0.164513 0.4404543 0.0481801 4.079457e-06 FALSE 0.000153464 ENSE00002382591_008 ENSE00002382591 008 3 107886596 107886765 - 44 72 54 A G 107886630 2258 136 AGATGAGTAAATGTACATTGATTCACGTAAAGTAGTTCATATACCTTGGTCTCCTTTAGAGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGAGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167782 108167783 108167783 downstr_intron 10 1.232558 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAACTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 124 1011 1 1 1 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.03072679 0.1272903 0.954826 0.9209915 NA 0.07900852 NA FALSE NA 0.895 1.154 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA AAT A,G 8.238e-05 3:108167783 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant 1.252367 0.25946 0.41807 0.164513 0.7787685 0.209798 4.079457e-06 FALSE 8.3827e-05 ENSE00002382591_009 ENSE00002382591 009 3 107886596 107886765 - 44 72 54 A T 107886636 2259 130 AGATGAGTAAATGTACATTGATTCACGTAAAGTAATTCATTTACCTTGGTCTCCTTTAGAGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGAGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167788 108167789 108167789 downstr_intron 4 1.093023 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTAAATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 986 256 0.9968144 1 0.9984072 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.02754118 0.1272903 0.954826 0.9209915 NA 0.07741571 NA FALSE NA 1 0.686 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA TAT A,T 8.238e-06 3:108167789 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 splice_region_variant 1.240126 0.82957 0.48659 0.294411 0.7830216 0.356313 4.079457e-06 FALSE 4.55963e-06 ENSE00002382591_010 ENSE00002382591 010 3 107886596 107886765 - 44 72 54 T G 107886651 2260 115 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTACAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167803 108167804 108167804 exon -12 0.8472222 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTACAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 1091 402 0.996678 1 0.998339 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.02740479 0.1272903 0.954826 0.9209915 NA 0.07734752 NA FALSE NA 1 3.658 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA TTT T,G 1.648e-05 3:108167804 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 missense_variant 2.04499 0.98452 0.9491 0.693126 0.9728819 0 4.079457e-06 FALSE 1.70891e-05 ENSE00002382591_011 ENSE00002382591 011 3 107886596 107886765 - 44 72 54 A G 107886655 2261 111 AGATGAGTAAATGTACATTGATTCACGTAAAGTAATTCATATACCTTGGTCTCCTTTAGGGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGAGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167807 108167808 108167808 exon -16 0.7916667 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCCCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 412 723 0.9986942 0.9991001 0.9988971 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.02942097 0.1263904 0.954826 0.9209915 NA 0.07790567 NA FALSE NA 1 2.315 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA GAG A,G 1.648e-05 3:108167808 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 synonymous_variant 0.051406 0.98056 0.87257 0.693126 0.6229359 0 4.079457e-06 FALSE 8.54723e-06 ENSE00002382591_012 ENSE00002382591 012 3 107886596 107886765 - 44 72 54 G C 107886659 2262 107 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATGTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167811 108167812 108167812 exon -20 0.7361111 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATGTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 741 579 0.9819153 1 0.9909576 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.01264207 0.1272903 0.954826 0.9209915 NA 0.06996616 NA FALSE NA 1 9.098 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA AGA G,C 8.238e-06 3:108167812 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 missense_variant 3.279113 0.99558 0.99352 0.693126 0.9860075 0 4.079457e-06 FALSE 4.2715e-06 ENSE00002382591_013 ENSE00002382591 013 3 107886596 107886765 - 44 72 54 T G 107886661 2263 105 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGACTCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167813 108167814 108167814 exon -22 0.7083333 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGACTCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 53 1327 1 0.9957582 0.9978791 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.03072679 0.1230485 0.954826 0.9209915 NA 0.07688764 NA FALSE NA 0.993 0.073 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs200227143 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 ATT T,G 9.061e-05 3:108167814 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 missense_variant 1.899212 0.97126 0.78569 0.693126 0.9886032 0 4.079457e-06 FALSE 6.4032e-05 ENSE00002382591_015 ENSE00002382591 015 3 107886596 107886765 - 44 72 54 C T 107886669 2265 97 AGATGAGTAAATGTACATTGATTCACGTAAAGTAATTCATATACCTTGGTCTCCTTTAGAGCAGATTCAATTCTACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGAGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167821 108167822 108167822 exon -30 0.5972222 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTAGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 987 349 0.9996893 0.9990926 0.999391 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.03041613 0.1263829 0.954826 0.9209915 NA 0.07839949 NA FALSE NA 1 5.487 rs142034712 upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs142034712 1 NA T:0.0005 T:0 CCA C,T 8.237e-06 3:108167822 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 missense_variant 4.969565 0.99142 0.96522 0.693126 0.9993375 0 4.079457e-06 FALSE 8.55959e-06 ENSE00002382591_016 ENSE00002382591 016 3 107886596 107886765 - 44 72 54 T C 107886672 2266 94 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAGGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167824 108167825 108167825 exon -33 0.5555556 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAGGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 248 135 0.9911667 1 0.9955834 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.02189349 0.1272903 0.954826 0.9209915 NA 0.07459187 NA FALSE NA 1 4.297 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA CTT T,C 8.237e-06 3:108167825 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 missense_variant 1.678924 0.9859 0.7492 0.693126 0.9938158 0 4.079457e-06 FALSE 8.52355e-06 ENSE00002382591_018 ENSE00002382591 018 3 107886596 107886765 - 44 72 54 G A 107886682 2268 84 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCATCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167834 108167835 108167835 exon 30 0.4166667 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCATCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 1061 669 1 0.9820271 0.9910136 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.03072679 0.1093174 0.954826 0.9209915 NA 0.07002208 NA FALSE NA 1 1.663 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs537974143 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGT G,A 8.237e-06 3:108167835 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 synonymous_variant 0.414382 0.97635 0.76331 0.693126 0.571742 0 4.079457e-06 FALSE NA ENSE00002382591_019 ENSE00002382591 019 3 107886596 107886765 - 44 72 54 C T 107886706 2269 60 AGATGAGTAAATGTACATTGATTCACGTAAAGTAATTCATATACCTTGGTCTCCTTTAGAGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTTCAATCCTACAGGCATAGAGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167858 108167859 108167859 exon 6 0.08333333 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGAAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 254 22 0.9993961 1 0.9996981 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.03012293 0.1272903 0.954826 0.9209915 NA 0.07870659 NA FALSE NA 1 7.194 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA TCC C,T 1.648e-05 3:108167859 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 stop_gained 13.22211 0.99524 0.98674 0.693126 0.9949063 0 4.079457e-06 FALSE 1.28357e-05 ENSE00002382591_022 ENSE00002382591 022 3 107886596 107886765 - 44 72 54 T A 107886721 2272 45 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTTTGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167873 108167874 108167874 upstr_intron -10 -0.1666667 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTTTGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 100 909 0.998464 0.9965867 0.9975254 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.02919082 0.1238769 0.954826 0.9209915 NA 0.07653388 NA FALSE NA 0.025 0.08 NA NA NA IFT57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:108167874 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant 0.497766 0.52641 0.07485 0.061011 0.667582 0.273306 4.079457e-06 FALSE 0 ENSE00002382591_023 ENSE00002382591 023 3 107886596 107886765 - 44 72 54 G C 107886723 2273 43 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTGTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167875 108167876 108167876 upstr_intron -12 -0.2037037 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTGTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 51 165 0.9814621 0.986217 0.9838396 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.01218892 0.1135073 0.954826 0.9209915 NA 0.06284809 NA FALSE NA 0 -0.068 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA AGA G,C 8.239e-06 3:108167876 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -1.377973 0.19792 0.13285 0.074636 0.2642081 0.116421 4.079457e-06 FALSE 4.59301e-06 ENSE00002382591_024 ENSE00002382591 024 3 107886596 107886765 - 44 72 54 A C 107886724 2274 42 AGATGAGTAAATGTACATTGATTCACGTAAAGTAATTCATATACCTTGGTCTCCTTTAGAGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGCGCACATAGAAATAATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167876 108167877 108167877 upstr_intron -13 -0.2222222 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCGCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 41 210 1 0.9844885 0.9922442 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.03072679 0.1117787 0.954826 0.9209915 NA 0.07125275 NA FALSE NA 0 0.177 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA GAG A,C 8.239e-06 3:108167877 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -1.006618 0.2428 0.06401 0.074636 0.3868967 0.120399 4.079457e-06 FALSE 4.62385e-06 ENSE00002382591_025 ENSE00002382591 025 3 107886596 107886765 - 44 72 54 T C 107886730 2275 36 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTGTGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167882 108167883 108167883 upstr_intron -19 -0.3333333 AAAGATGGAAATGTAGTATTTTTTACATTATTTCTGTGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 1407 706 0.9969638 0.9948124 0.9958881 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.0276906 0.1221026 0.954826 0.9209915 NA 0.07489662 NA FALSE NA 0 -1.642 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs558374117 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATA T,C 2.472e-05 3:108167883 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -1.252037 0.14637 0.02204 0.074636 0.2934269 0.0715842 4.079457e-06 FALSE 2.39425e-05 ENSE00002382591_026 ENSE00002382591 026 3 107886596 107886765 - 44 72 54 A C 107886737 2276 29 AGATGAGTAAATGTACATTGATTCACGTAAAGTAATTCATATACCTTGGTCTCCTTTAGAGCAGATTCAATTCCACTTCTGTGCTGGTGCATTTGGTCAACATGGATTCTCCAATCCTACAGGCATAGAGCACATAGAAATCATGTAAAAAATACTACATTTCCATCTTT 108167748 108167918 108167889 108167890 108167890 upstr_intron -26 -0.462963 AAAGATGGAAATGTAGTATTTTTTACATGATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 279 50 0.9784424 1 0.9892212 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.009169219 0.1272903 0.954826 0.9209915 NA 0.06822974 NA FALSE NA 0 0.647 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs373790244 1 NA C:0.0005 C:0 TAA A,C 1.648e-05 3:108167890 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -0.601474 0.3707 0.15946 0.074636 0.6839733 0.0715842 4.079457e-06 FALSE 9.85717e-06 ENSE00002382591_028 ENSE00002382591 028 3 107886596 107886765 - 44 72 54 T C 107886741 2278 25 AAAGATGGAAATGTAGTATTTTTTGCATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167893 108167894 108167894 upstr_intron -30 -0.537037 AAAGATGGAAATGTAGTATTTTTTGCATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 1871 44 0.9985761 1 0.999288 0.9709431 0.938709 0.9692732 0.8727097 NA NA 0.02930286 0.1272903 0.954826 0.9209915 NA 0.07829656 NA FALSE NA 0.003 0.627 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 1 NA GTA T,C 7.416e-05 3:108167894 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -0.091093 0.20917 0.16269 0.074636 0.5731892 0.0715842 4.079457e-06 FALSE 6.47636e-05 ENSE00002382591_029 ENSE00002382591 029 3 107886596 107886765 - 44 72 54 T C 107886748 2279 18 AAAGATGGAAATGTAGTGTTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT 108167748 108167918 108167900 108167901 108167901 upstr_intron -37 -0.6666667 AAAGATGGAAATGTAGTGTTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT AAAGATGGAAATGTAGTATTTTTTACATTATTTCTATGTGCTCTATGCCTGTAGGATTGGAGAATCCATGTTGACCAAATGCACCAGCACAGAAGTGGAATTGAATCTGCTCTAAAGGAGACCAAGGTATATGAATTACTTTACGTGAATCAATGTACATTTACTCATCT mutant NA NA NA NA NA 231 1655 0.2384272 0.2655272 0.2519772 0.9709431 0.938709 0.9692732 0.8727097 NA NA -0.730846 -0.6071825 0.954826 0.9209915 NA -0.6690143 NA TRUE NA 0.007 0.821 . upstream_gene_variant MODIFIER IFT57 HGNC 17367 ENST00000468021 rs376942511 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 ATA T,C 1.648e-05 3:108167901 IFT57 HGNC Symbol protein_coding 61758 ENSG00000114446 ENSE00003484415 intron_variant -0.076715 0.18565 0.08354 0.074636 0.6602795 0.0715842 4.079457e-06 FALSE 1.51733e-05 ENSE00002382808_000 ENSE00002382808 000 12 113304514 113304683 + 48 84 38 NA NA NA NA NA CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 NA NA NA NA NA NA CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT natural 44 12 0.9785314 1 0.9892657 395 276 0.9972731 0.9589646 0.9781189 0.9785314 1 0.9972731 0.9589646 0 0 0 0 0.9892657 0.9781189 0 0 0 FALSE FALSE NA NA NA NA NA RPH3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RPH3A NA NA NA ENSG00000089169 ENSE00003472924 NA NA NA NA NA NA NA 0.7386035 FALSE NA ENSE00002382808_001 ENSE00002382808 001 12 113304514 113304683 + 48 84 38 C T 113304527 3300 14 CCCATGAGCATGGTTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866721 112866722 112866722 upstr_intron -35 -0.7083333 CCCATGAGCATGGTTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 413 183 0.99802 0.988176 0.993098 0.9785314 1 0.9972731 0.9589646 NA NA 0.0007468569 0.02921134 0.9892657 0.9781189 NA 0.0149791 NA FALSE NA 0 1.163 . intron_variant MODIFIER RPH3A HGNC 17056 ENST00000550901 5/5 rs376798636 1 NA T:0 T:0.0001 GCT C,T 8.241e-06 12:112866722 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 intron_variant 0.301448 0.22221 0.05269 0.06567 0.4988278 0.0448725 0.7386035 FALSE 4.49782e-06 ENSE00002382808_002 ENSE00002382808 002 12 113304514 113304683 + 48 84 38 G A 113304538 3301 25 CCCATGAGCATGGCTCATCTGAGTATGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866732 112866733 112866733 upstr_intron -24 -0.4791667 CCCATGAGCATGGCTCATCTGAGTATGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 507 17 0.9970407 1 0.9985203 0.9785314 1 0.9972731 0.9589646 NA NA -0.0002324031 0.04103536 0.9892657 0.9781189 NA 0.02040148 NA FALSE NA 0 -0.265 . intron_variant MODIFIER RPH3A HGNC 17056 ENST00000550901 5/5 1 NA TGT G,A 1.648e-05 12:112866733 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 intron_variant 0.056903 0.35233 0.04453 0.06567 0.675265 0.0448725 0.7386035 FALSE 2.17829e-05 ENSE00002382808_003 ENSE00002382808 003 12 113304514 113304683 + 48 84 38 G A 113304543 3302 30 CCCATGAGCATGGCTCATCTGAGTGTGTTAGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866737 112866738 112866738 upstr_intron -19 -0.375 CCCATGAGCATGGCTCATCTGAGTGTGTTAGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 119 52 1 1 1 0.9785314 1 0.9972731 0.9589646 NA NA 0.0027269 0.04103536 0.9892657 0.9781189 NA 0.02188113 NA FALSE NA 0 -0.334 . intron_variant MODIFIER RPH3A HGNC 17056 ENST00000550901 5/5 1 NA TGG G,A 8.239e-06 12:112866738 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 intron_variant 0.060538 0.29348 0.07395 0.06567 0.4895312 0.0448725 0.7386035 FALSE 8.61052e-06 ENSE00002382808_004 ENSE00002382808 004 12 113304514 113304683 + 48 84 38 A T 113304563 3303 50 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGATCGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866757 112866758 112866758 exon 2 0.02380952 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGATCGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 219 793 0.996954 1 0.998477 0.9785314 1 0.9972731 0.9589646 NA NA -0.0003191049 0.04103536 0.9892657 0.9781189 NA 0.02035813 NA FALSE NA 1 6.487 . missense_variant&splice_region_variant MODERATE RPH3A HGNC 17056 ENST00000550901 6/6 1 tolerated(0.25) probably_damaging(0.976) NA AAC A,T 8.238e-06 12:112866758 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 missense_variant 5.359849 0.9886 0.96328 0.487112 0.9865144 0 0.7386035 FALSE 4.19992e-06 ENSE00002382808_007 ENSE00002382808 007 12 113304514 113304683 + 48 84 38 G A 113304565 3306 52 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACATCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866759 112866760 112866760 exon 4 0.04761905 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACATCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 602 401 0.998417 0.9953043 0.9968606 0.9785314 1 0.9972731 0.9589646 NA NA 0.001143899 0.03633965 0.9892657 0.9781189 NA 0.01874177 NA FALSE NA 1 4.438 . missense_variant MODERATE RPH3A HGNC 17056 ENST00000550901 6/6 rs555846302 1 tolerated(0.09) benign(0.008) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGT G,A 8.237e-05 12:112866760 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 missense_variant 2.068267 0.97681 0.80804 0.487112 0.9983201 0 0.7386035 FALSE 7.97187e-05 ENSE00002382808_008 ENSE00002382808 008 12 113304514 113304683 + 48 84 38 C T 113304579 3307 66 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGTGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866773 112866774 112866774 exon 18 0.2142857 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGTGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 196 209 0.9595818 0.9964635 0.9780227 0.9785314 1 0.9972731 0.9589646 NA NA -0.03769127 0.03749887 0.9892657 0.9781189 NA -9.620077e-05 NA FALSE NA 0.59 -0.125 rs138324896 synonymous_variant LOW RPH3A HGNC 17056 ENST00000550901 6/6 rs138324896&COSM303128 1 NA T:0 T:0.0002 GCG C,T 0.0001977 12:112866774 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 synonymous_variant 2.012968 0.94402 0.13668 0.487112 0.6506363 0 0.7386035 FALSE 0.000226946 ENSE00002382808_009 ENSE00002382808 009 12 113304514 113304683 + 48 84 38 G A 113304580 3308 67 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCAGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866774 112866775 112866775 exon 19 0.2261905 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCAGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 491 38 0.9434265 0.8 0.8717132 0.9785314 1 0.9972731 0.9589646 NA NA -0.05384663 -0.1589646 0.9892657 0.9781189 NA -0.1064056 NA FALSE NA 1 8.724 . missense_variant MODERATE RPH3A HGNC 17056 ENST00000550901 6/6 rs372928258 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0001 CGG G,A 3.295e-05 12:112866775 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 missense_variant 7.252273 0.99106 0.9777 0.487112 0.9990871 0 0.7386035 FALSE 2.93263e-05 ENSE00002382808_011 ENSE00002382808 011 12 113304514 113304683 + 48 84 38 C A 113304591 3310 78 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACAAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866785 112866786 112866786 exon 30 0.3571429 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACAAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 203 570 0.9933267 1 0.9966633 0.9785314 1 0.9972731 0.9589646 NA NA -0.003946439 0.04103536 0.9892657 0.9781189 NA 0.01854446 NA FALSE NA 1 1.521 . synonymous_variant LOW RPH3A HGNC 17056 ENST00000550901 6/6 1 NA CCA C,A 8.238e-06 12:112866786 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 synonymous_variant 2.328322 0.97399 0.7997 0.487112 0.7116033 0 0.7386035 FALSE NA ENSE00002382808_012 ENSE00002382808 012 12 113304514 113304683 + 48 84 38 C T 113304598 3311 85 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACTGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866792 112866793 112866793 exon 37 0.4404762 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACTGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 979 521 0.9975924 0.9636461 0.9806192 0.9785314 1 0.9972731 0.9589646 NA NA 0.0003192672 0.00468143 0.9892657 0.9781189 NA 0.002500348 NA FALSE NA 1 6.918 . missense_variant MODERATE RPH3A HGNC 17056 ENST00000550901 6/6 1 deleterious(0) probably_damaging(0.997) NA CCG C,T 1.647e-05 12:112866793 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 missense_variant 7.529188 0.98503 0.95233 0.487112 0.9989733 0 0.7386035 FALSE 8.24368e-06 ENSE00002382808_013 ENSE00002382808 013 12 113304514 113304683 + 48 84 38 G A 113304599 3312 86 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCACCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866793 112866794 112866794 exon 38 0.452381 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCACCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 435 85 0.9779588 1 0.9889794 0.9785314 1 0.9972731 0.9589646 NA NA -0.01931431 0.04103536 0.9892657 0.9781189 NA 0.01086052 NA FALSE NA 1 6.838 rs148899308 missense_variant MODERATE RPH3A HGNC 17056 ENST00000550901 6/6 rs148899308&COSM3752922 1 tolerated(0.05) probably_damaging(0.994) A:0.0008 A:0 A:0 NA A:0.002 A:0 A:0.002 CGC G,A 8.237e-05 12:112866794 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 missense_variant 7.057019 0.985 0.9522 0.487112 0.9993267 0 0.7386035 FALSE 9.0682e-05 ENSE00002382808_016 ENSE00002382808 016 12 113304514 113304683 + 48 84 38 T A 113304607 3315 94 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATACTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866801 112866802 112866802 exon -39 0.547619 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATACTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 49 116 1 0.955232 0.977616 0.9785314 1 0.9972731 0.9589646 NA NA 0.0027269 -0.003732633 0.9892657 0.9781189 NA -0.0005028665 NA FALSE NA 0.001 -0.56 . missense_variant MODERATE RPH3A HGNC 17056 ENST00000550901 6/6 1 tolerated(0.36) benign(0.056) NA TTC T,A 8.237e-06 12:112866802 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 missense_variant 1.114903 0.18789 0.03691 0.487112 0.5295026 0 0.7386035 FALSE NA ENSE00002382808_017 ENSE00002382808 017 12 113304514 113304683 + 48 84 38 G A 113304610 3316 97 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTATGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866804 112866805 112866805 exon -36 0.5833333 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTATGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 19 49 1 1 1 0.9785314 1 0.9972731 0.9589646 NA NA 0.0027269 0.04103536 0.9892657 0.9781189 NA 0.02188113 NA FALSE NA 0.995 2.786 . missense_variant MODERATE RPH3A HGNC 17056 ENST00000550901 6/6 1 tolerated(0.11) benign(0.004) NA TGT G,A 3.295e-05 12:112866805 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 missense_variant 2.730972 0.97514 0.8044 0.487112 0.9942128 0 0.7386035 FALSE 1.23851e-05 ENSE00002382808_018 ENSE00002382808 018 12 113304514 113304683 + 48 84 38 C T 113304654 3317 141 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCTCTGGTCCCACCTGGTGCCTAGATCACCCT 112866708 112866878 112866848 112866849 112866849 downstr_intron 9 1.243243 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCTCTGGTCCCACCTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 107 452 0.9838586 0.9857402 0.9847994 0.9785314 1 0.9972731 0.9589646 NA NA -0.01341447 0.02677559 0.9892657 0.9781189 NA 0.006680559 NA FALSE NA 0 -0.858 NA NA NA RPH3A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:112866849 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 intron_variant 0.373233 0.1922 0.01909 0.06567 0.5349829 0.0616993 0.7386035 FALSE 4.44361e-05 ENSE00002382808_021 ENSE00002382808 021 12 113304514 113304683 + 48 84 38 C G 113304665 3320 152 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACGTGGTGCCTAGATCACCCT 112866708 112866878 112866859 112866860 112866860 downstr_intron 20 1.540541 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACGTGGTGCCTAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 118 218 0.9946483 0.8618516 0.92825 0.9785314 1 0.9972731 0.9589646 NA NA -0.002624814 -0.09711301 0.9892657 0.9781189 NA -0.04986891 NA FALSE NA 0.001 0.268 . downstream_gene_variant MODIFIER RPH3A HGNC 17056 ENST00000550901 1 NA CCT C,G 8.251e-06 12:112866860 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 intron_variant -0.14642 0.22503 0.01766 0.06567 0.373013 0.0616993 0.7386035 FALSE NA ENSE00002382808_022 ENSE00002382808 022 12 113304514 113304683 + 48 84 38 T A 113304673 3321 160 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCAAGATCACCCT 112866708 112866878 112866867 112866868 112866868 downstr_intron 28 1.756757 CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCAAGATCACCCT CCCATGAGCATGGCTCATCTGAGTGTGTTGGCTGTGTTTCATCCACAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGCAAAATCTGCATTGAGCAGAGGGAGGTGAGTGCCCTGGTCCCACCTGGTGCCTAGATCACCCT mutant NA NA NA NA NA 77 105 1 1 1 0.9785314 1 0.9972731 0.9589646 NA NA 0.0027269 0.04103536 0.9892657 0.9781189 NA 0.02188113 NA FALSE NA 0 -1.391 . downstream_gene_variant MODIFIER RPH3A HGNC 17056 ENST00000550901 rs368912323 1 -:0.0018 -:0 -:0 NA -:0.0089 -:0 -:0 CTA T,A 8.272e-06 12:112866868 RPH3A HGNC Symbol protein_coding 328501 ENSG00000089169 ENSE00003472924 intron_variant 0.369835 0.12855 0.03626 0.06567 0.7819377 0.0616993 0.7386035 FALSE 4.76485e-06 ENSE00002382826_000 ENSE00002382826 000 5 149245695 149245864 - 38 84 48 NA NA NA NA NA GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 NA NA NA NA NA NA GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT natural 27 48 0.9867943 0.9946991 0.9907467 2104 4287 0.826471 0.9066172 0.8665441 0.9867943 0.9946991 0.826471 0.9066172 0 0 0 0 0.9907467 0.8665441 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003617448 NA NA NA NA NA NA NA 6.605086e-12 FALSE NA ENSE00002382826_001 ENSE00002382826 001 5 149245695 149245864 - 38 84 48 C T 149245709 1685 156 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCACAACAAGATGTCTT 149866131 149866301 149866145 149866146 149866146 downstr_intron 24 1.648649 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCACAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 626 1858 0.9999342 0.9101597 0.955047 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1734632 0.003542469 0.9907467 0.8665441 NA 0.08850286 NA FALSE NA 0 -0.339 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149866146 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 intron_variant 0.134034 0.13845 0.01132 0.053691 0.6055629 0.0540679 6.605086e-12 FALSE 1.62583e-05 ENSE00002382826_002 ENSE00002382826 002 5 149245695 149245864 - 38 84 48 C G 149245709 1686 156 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCCCAACAAGATGTCTT 149866131 149866301 149866145 149866146 149866146 downstr_intron 24 1.648649 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCCCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 807 1287 0.9971955 0.9995509 0.9983732 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1707245 0.09293365 0.9907467 0.8665441 NA 0.1318291 NA FALSE NA 0 -0.339 NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003617448 intron_variant -0.098025 0.07638 5e-04 0.053691 0.4282182 0.0540679 6.605086e-12 FALSE 4.06458e-06 ENSE00002382826_003 ENSE00002382826 003 5 149245695 149245864 - 38 84 48 G A 149245710 1687 155 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCTGCAACAAGATGTCTT 149866131 149866301 149866146 149866147 149866147 downstr_intron 23 1.621622 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCTGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 305 419 1 0.9995312 0.9997656 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.173529 0.09291402 0.9907467 0.8665441 NA 0.1332215 NA FALSE NA 0 0.471 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 20/21 1 NA CGG G,A 1.647e-05 5:149866147 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 intron_variant 0.340025 0.22556 0.02682 0.053691 0.4163162 0.0540679 6.605086e-12 FALSE 1.21891e-05 ENSE00002382826_004 ENSE00002382826 004 5 149245695 149245864 - 38 84 48 T C 149245713 1688 152 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCGGCCGCAACAAGATGTCTT 149866131 149866301 149866149 149866150 149866150 downstr_intron 20 1.540541 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCGGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 127 3897 0.9528659 0.8551899 0.9040279 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1263949 -0.05142733 0.9907467 0.8665441 NA 0.03748376 NA FALSE NA 0 0.252 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 20/21 1 NA CTG T,C 8.236e-06 5:149866150 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 intron_variant 0.127175 0.18331 0.04084 0.053691 0.5296623 0.0540679 6.605086e-12 FALSE 4.06289e-06 ENSE00002382826_005 ENSE00002382826 005 5 149245695 149245864 - 38 84 48 C T 149245733 1689 132 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAAGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866169 149866170 149866170 exon -1 1 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAAGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 391 513 0.03762807 0 0.01881403 0.9867943 0.9946991 0.826471 0.9066172 NA NA -0.7888429 -0.9066172 0.9907467 0.8665441 NA -0.8477301 NA TRUE NA 1 7.136 . splice_region_variant&synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 20/22 1 NA CCT C,T 8.237e-06 5:149866170 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 splice_region_variant 2.323493 0.99288 0.96661 0.487112 0.9371006 0 6.605086e-12 FALSE NA ENSE00002382826_006 ENSE00002382826 006 5 149245695 149245864 - 38 84 48 T G 149245734 1690 131 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACACGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866170 149866171 149866171 exon -2 0.9880952 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACACGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 29 151 0.8345502 0.6702189 0.7523846 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.008079243 -0.2363983 0.9907467 0.8665441 NA -0.1141595 NA FALSE NA 1 7.337 . missense_variant&splice_region_variant MODERATE PDE6A HGNC 8785 ENST00000255266 20/22 rs201648290 1 deleterious(0.01) probably_damaging(0.997) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CTT T,G 8.236e-06 5:149866171 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 missense_variant 6.303457 0.99086 0.97005 0.487112 0.998153 0 6.605086e-12 FALSE 1.2183e-05 ENSE00002382826_007 ENSE00002382826 007 5 149245695 149245864 - 38 84 48 G A 149245736 1691 129 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTATAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866172 149866173 149866173 exon -4 0.9642857 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTATAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 3218 68 0.9537886 0.9689265 0.9613575 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1273176 0.06230929 0.9907467 0.8665441 NA 0.09481343 NA FALSE NA 1 1.206 . synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 20/22 rs201275090 1 NA A:0 A:0.0001 TGT G,A 1.647e-05 5:149866173 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 synonymous_variant 0.404562 0.97336 0.75483 0.487112 0.5039958 0 6.605086e-12 FALSE 2.43667e-05 ENSE00002382826_009 ENSE00002382826 009 5 149245695 149245864 - 38 84 48 C G 149245741 1693 124 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCCTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866177 149866178 149866178 exon -9 0.9047619 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCCTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 598 610 0.9787447 0.9759135 0.9773291 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1522737 0.06929627 0.9907467 0.8665441 NA 0.110785 NA FALSE NA 1 7.136 NA NA NA PDE6A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149866178 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 missense_variant 5.640338 0.99323 0.97539 0.487112 0.9951184 0 6.605086e-12 FALSE 4.06111e-06 ENSE00002382826_010 ENSE00002382826 010 5 149245695 149245864 - 38 84 48 G A 149245742 1694 123 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTTGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866178 149866179 149866179 exon -10 0.8928571 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTTGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 872 251 0.866519 0.8760079 0.8712635 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.04004799 -0.03060928 0.9907467 0.8665441 NA 0.004719353 NA FALSE NA 1 1.021 . synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 20/22 rs202092523&COSM1435103 1 NA CGA G,A 9.06e-05 5:149866179 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 synonymous_variant 1.695469 0.95073 0.21176 0.487112 0.6525476 0 6.605086e-12 FALSE 9.74667e-05 ENSE00002382826_011 ENSE00002382826 011 5 149245695 149245864 - 38 84 48 A G 149245751 1695 114 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTCTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866187 149866188 149866188 exon -19 0.7857143 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTCTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 989 282 0.9982813 0.9994388 0.9988601 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1718103 0.09282156 0.9907467 0.8665441 NA 0.132316 NA FALSE NA 0.235 -0.777 . synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 20/22 1 NA AAA A,G 8.236e-06 5:149866188 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 synonymous_variant 0.452066 0.65155 0.03997 0.487112 0.7081996 0 6.605086e-12 FALSE 4.06091e-06 ENSE00002382826_012 ENSE00002382826 012 5 149245695 149245864 - 38 84 48 A G 149245754 1696 111 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTCGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866190 149866191 149866191 exon -22 0.75 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTCGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 235 239 0.9913382 0.8122399 0.901789 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1648672 -0.09437731 0.9907467 0.8665441 NA 0.03524493 NA FALSE NA 0.836 -0.063 rs17110644 synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 20/22 rs17110644 1 G:0.0547 G:0.1044 G:0.0865 NA G:0.005 G:0.0278 G:0.044 G:0.0917 G:0.037 CAA A,G 0.052 5:149866191 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 synonymous_variant -0.220752 0.82982 0.2854 0.487112 0.6202033 0 6.605086e-12 FALSE 0.0541938 ENSE00002382826_014 ENSE00002382826 014 5 149245695 149245864 - 38 84 48 G T 149245769 1698 96 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTAGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866205 149866206 149866206 exon -37 0.5714286 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTAGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 294 548 0.8 0.6655866 0.7327933 0.9867943 0.9946991 0.826471 0.9066172 NA NA -0.026471 -0.2410306 0.9907467 0.8665441 NA -0.1337508 NA FALSE NA 0.002 -0.894 . synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 20/22 COSM1064206 1 NA CGA G,T 8.236e-06 5:149866206 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 synonymous_variant 1.488241 0.83991 0.11779 0.553676 0.7298412 0 6.605086e-12 FALSE 4.06105e-06 ENSE00002382826_015 ENSE00002382826 015 5 149245695 149245864 - 38 84 48 G A 149245782 1699 83 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCTTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866218 149866219 149866219 exon 35 0.4166667 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCTTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 864 1166 0.9415605 0.9952935 0.968427 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1150895 0.08867633 0.9907467 0.8665441 NA 0.1018829 NA FALSE NA 1 9.013 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 20/22 1 deleterious(0) probably_damaging(0.999) NA AGG G,A 8.236e-06 5:149866219 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 missense_variant 6.785837 0.99322 0.98101 0.553676 0.9987772 0 6.605086e-12 FALSE NA ENSE00002382826_017 ENSE00002382826 017 5 149245695 149245864 - 38 84 48 A G 149245790 1701 75 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGACGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866226 149866227 149866227 exon 27 0.3214286 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGACGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 299 12 0.8286872 1 0.9143436 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.002216182 0.0933828 0.9907467 0.8665441 NA 0.04779949 NA FALSE NA 0.009 -0.894 . synonymous_variant LOW PDE6A HGNC 8785 ENST00000255266 20/22 rs201085169 1 G:0.0030 G:0 G:0 NA G:0 G:0 G:0.0153 CAT A,G 0.00168 5:149866227 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 synonymous_variant 0.565044 0.69303 0.04321 0.553676 0.5316106 0 6.605086e-12 FALSE 0.0015433 ENSE00002382826_018 ENSE00002382826 018 5 149245695 149245864 - 38 84 48 G C 149245794 1702 71 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGGAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866230 149866231 149866231 exon 23 0.2738095 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGGAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 3765 241 0.9997045 0.9054069 0.9525557 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1732335 -0.001210334 0.9907467 0.8665441 NA 0.08601159 NA FALSE NA 1 6.012 . missense_variant MODERATE PDE6A HGNC 8785 ENST00000255266 20/22 1 tolerated(0.09) possibly_damaging(0.506) NA TGC G,C 8.236e-06 5:149866231 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 missense_variant 4.803998 0.9935 0.96996 0.553676 0.9946218 0 6.605086e-12 FALSE 4.06138e-06 ENSE00002382826_019 ENSE00002382826 019 5 149245695 149245864 - 38 84 48 G A 149245826 1703 39 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCTCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866262 149866263 149866263 upstr_intron -10 -0.1875 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCTCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 1043 496 0.9983709 0.9958269 0.9970989 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.1719 0.08920974 0.9907467 0.8665441 NA 0.1305548 NA FALSE NA 0 0.717 rs148881523 intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 19/21 rs148881523 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 GGG G,A 2.471e-05 5:149866263 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 non_coding_transcript_exon_variant 1.270893 0.22801 0.09618 0.074636 0.7069251 0.271668 6.605086e-12 FALSE 1.21858e-05 ENSE00002382826_020 ENSE00002382826 020 5 149245695 149245864 - 38 84 48 G A 149245828 1704 37 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTTCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866264 149866265 149866265 upstr_intron -12 -0.2291667 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTTCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 218 18 1 1 1 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.173529 0.0933828 0.9907467 0.8665441 NA 0.1334559 NA FALSE NA 0.859 0.275 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 19/21 rs369288898 1 NA A:0.0005 A:0 GGA G,A 2.471e-05 5:149866265 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 non_coding_transcript_exon_variant 1.300252 0.22747 0.09695 0.074636 0.7013771 0.27086 6.605086e-12 FALSE 2.43734e-05 ENSE00002382826_021 ENSE00002382826 021 5 149245695 149245864 - 38 84 48 A G 149245831 1705 34 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTCCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866267 149866268 149866268 upstr_intron -15 -0.2916667 GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTCCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 343 253 0.944566 0.9467422 0.9456541 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.118095 0.04012501 0.9907467 0.8665441 NA 0.07910999 NA FALSE NA 0.904 2.552 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 19/21 rs540834855 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GAA A,G 4.118e-05 5:149866268 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 non_coding_transcript_exon_variant 1.250354 0.83512 0.50945 0.053691 0.8758064 0.193114 6.605086e-12 FALSE 3.24952e-05 ENSE00002382826_023 ENSE00002382826 023 5 149245695 149245864 - 38 84 48 A G 149245852 1707 13 GGTTTCTCTTACCGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 149866288 149866289 149866289 upstr_intron -36 -0.7291667 GGTTTCTCTTACCGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT mutant NA NA NA NA NA 270 133 1 0.9997133 0.9998567 0.9867943 0.9946991 0.826471 0.9066172 NA NA 0.173529 0.09309614 0.9907467 0.8665441 NA 0.1333126 NA FALSE NA 0 0.087 . intron_variant MODIFIER PDE6A HGNC 8785 ENST00000255266 19/21 1 NA CAG A,G 8.236e-06 5:149866289 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003617448 non_coding_transcript_exon_variant -0.118471 0.19046 0.03533 0.053691 0.7375998 0.0832456 6.605086e-12 FALSE 4.06722e-06 ENSE00002382826_BRK ENSE00002382826 BRK 5 149245695 149245864 - 38 84 48 A,G; T,T NA NA NA GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACTTCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGCCAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT 149866131 149866301 NA NA NA NA NA NA GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACTTCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGCCAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT GGTTTCTCTTACTGTCCAGTGCAATTAACTCTTTCTCCCCCATGACAGCCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAGGTAGGCCCTTGGCTTCCTCAGCCGCAACAAGATGTCTT control 26 15 0 0 0 132 57 0 0 0 0.9867943 0.9946991 0.826471 0.9066172 -0.9867943 -0.9946991 -0.826471 -0.9066172 0.9907467 0.8665441 -0.9907467 -0.8665441 0.1242026 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003617448 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002382866_000 ENSE00002382866 000 7 140225492 140225661 - 59 42 69 NA NA NA NA NA AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 NA NA NA NA NA NA AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG natural NA NA NA NA NA 1629 2673 0.9734625 0.8227931 0.8981278 NA NA 0.9734625 0.8227931 NA NA 0 0 NA 0.8981278 NA 0 NA FALSE NA NA NA NA NA NA DENND2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2A NA NA NA ENSG00000146966 ENSE00003476494 NA NA NA NA NA NA NA 0.9722313 TRUE NA ENSE00002382866_002 ENSE00002382866 002 7 140225492 140225661 - 59 42 69 C T 140225532 2887 130 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACAGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525731 140525732 140525732 downstr_intron 19 1.327586 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACAGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 48 643 1 0.9994655 0.9997328 NA NA 0.9734625 0.8227931 NA NA 0.02653746 0.1766724 NA 0.8981278 NA 0.1016049 NA FALSE NA 0 -3.409 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 16/19 rs200901456 1 T:0.0020 T:0.0068 T:0.0014 NA T:0 T:0 T:0 T:0.0108 T:0 CCG C,T 0.0009432 7:140525732 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant -0.172789 0.17327 0.00337 0.053691 0.4205173 0.109227 0.9722313 TRUE 0.00078256 ENSE00002382866_004 ENSE00002382866 004 7 140225492 140225661 - 59 42 69 C T 140225535 2889 127 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCAACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525734 140525735 140525735 downstr_intron 16 1.275862 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCAACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 82 124 0.991683 0.951616 0.9716495 NA NA 0.9734625 0.8227931 NA NA 0.01822042 0.1288229 NA 0.8981278 NA 0.07352164 NA FALSE NA 0 -1.472 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 16/19 1 NA TCG C,T 8.273e-06 7:140525735 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant -0.505371 0.15618 0.02869 0.053691 0.4923711 0.0879178 0.9722313 TRUE NA ENSE00002382866_005 ENSE00002382866 005 7 140225492 140225661 - 59 42 69 G A 140225536 2890 126 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGTGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525735 140525736 140525736 downstr_intron 15 1.258621 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGTGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 16 196 0.9902806 0.8712126 0.9307466 NA NA 0.9734625 0.8227931 NA NA 0.01681809 0.04841951 NA 0.8981278 NA 0.0326188 NA FALSE NA 0 -3.508 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 16/19 1 NA CGC G,A 8.272e-06 7:140525736 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant -0.108551 0.18206 0.00756 0.053691 0.4115134 0.0879178 0.9722313 TRUE NA ENSE00002382866_006 ENSE00002382866 006 7 140225492 140225661 - 59 42 69 C T 140225541 2891 121 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGACCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525740 140525741 140525741 downstr_intron 10 1.172414 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGACCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 30 12 0.9986201 1 0.99931 NA NA 0.9734625 0.8227931 NA NA 0.02515755 0.1772069 NA 0.8981278 NA 0.1011822 NA FALSE NA 0 -1.469 rs7781255 intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 16/19 rs7781255 1 T:0.0038 T:0.0144 T:0 NA T:0 T:0 T:0 T:0.0082 T:0 GCC C,T 0.0008188 7:140525741 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant 0.275197 0.14609 0.01524 0.053691 0.517369 0.0983555 0.9722313 TRUE 0.000700694 ENSE00002382866_007 ENSE00002382866 007 7 140225492 140225661 - 59 42 69 C T 140225548 2892 114 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTAAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525747 140525748 140525748 downstr_intron 3 1.051724 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTAAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 1363 548 0.9993338 0.9892963 0.9943151 NA NA 0.9734625 0.8227931 NA NA 0.02587131 0.1665032 NA 0.8981278 NA 0.09618725 NA FALSE NA 1 0.592 . splice_region_variant&intron_variant LOW DENND2A HGNC 22212 ENST00000496613 16/19 1 NA TCA C,T 1.654e-05 7:140525748 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 splice_region_variant 2.1715 0.97441 0.60455 0.053691 0.841682 0.506762 0.9722313 TRUE 4.19006e-06 ENSE00002382866_009 ENSE00002382866 009 7 140225492 140225661 - 59 42 69 A T 140225561 2894 101 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTACCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525760 140525761 140525761 exon -11 0.7619048 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTACCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 295 1187 0.9661171 0.9407168 0.953417 NA NA 0.9734625 0.8227931 NA NA -0.007345394 0.1179237 NA 0.8981278 NA 0.05528916 NA FALSE NA 1 8.79 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 16/20 1 deleterious(0) probably_damaging(0.964) NA GAA A,T 8.271e-06 7:140525761 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 missense_variant 6.975943 0.97552 0.98144 0.706298 0.9955112 0 0.9722313 TRUE 4.18929e-06 ENSE00002382866_010 ENSE00002382866 010 7 140225492 140225661 - 59 42 69 C T 140225563 2895 99 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGATTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525762 140525763 140525763 exon -13 0.7142857 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGATTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 409 1004 0.9585621 0.9880616 0.9733119 NA NA 0.9734625 0.8227931 NA NA -0.01490045 0.1652685 NA 0.8981278 NA 0.07518403 NA FALSE NA 0.048 -0.753 . synonymous_variant LOW DENND2A HGNC 22212 ENST00000496613 16/20 rs557027807 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ACC C,T 8.272e-06 7:140525763 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 missense_variant 1.821009 0.53881 0.16952 0.706298 0.8752646 0 0.9722313 TRUE 4.19562e-06 ENSE00002382866_011 ENSE00002382866 011 7 140225492 140225661 - 59 42 69 C T 140225564 2896 98 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCAGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525763 140525764 140525764 exon -14 0.6904762 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCAGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 60 840 1 0.9562627 0.9781313 NA NA 0.9734625 0.8227931 NA NA 0.02653746 0.1334696 NA 0.8981278 NA 0.08000351 NA FALSE NA 1 5.624 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 16/20 COSM351545 1 deleterious(0.01) possibly_damaging(0.897) NA CCG C,T 2.482e-05 7:140525764 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 missense_variant 8.241873 0.97928 0.95895 0.706298 0.9994921 0 0.9722313 TRUE 2.52321e-05 ENSE00002382866_012 ENSE00002382866 012 7 140225492 140225661 - 59 42 69 G A 140225565 2897 97 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCTGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525764 140525765 140525765 exon -15 0.6666667 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCTGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 279 153 0.8424684 0.9206783 0.8815734 NA NA 0.9734625 0.8227931 NA NA -0.1309941 0.09788523 NA 0.8981278 NA -0.01655444 NA FALSE NA 1 6.111 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 16/20 rs373105289 1 deleterious(0) probably_damaging(0.995) NA A:0 A:0.0001 CGG G,A 8.272e-06 7:140525765 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 missense_variant 8.405776 0.97955 0.96401 0.706298 0.9991458 0 0.9722313 TRUE NA ENSE00002382866_014 ENSE00002382866 014 7 140225492 140225661 - 59 42 69 C T 140225574 2899 88 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCATCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525773 140525774 140525774 exon 19 0.452381 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCATCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 65 443 1 0.999914 0.999957 NA NA 0.9734625 0.8227931 NA NA 0.02653746 0.1771209 NA 0.8981278 NA 0.1018292 NA FALSE NA 0.997 3.514 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 16/20 rs201986896 1 tolerated(0.59) benign(0.009) NA T:0.0005 T:0 ACG C,T 0.0001489 7:140525774 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 missense_variant 3.591185 0.95594 0.88629 0.706298 0.9915962 0 0.9722313 TRUE 0.000143182 ENSE00002382866_015 ENSE00002382866 015 7 140225492 140225661 - 59 42 69 G A 140225575 2900 87 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTTGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525774 140525775 140525775 exon 18 0.4285714 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTTGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 226 446 0.4210458 0.5352829 0.4781644 NA NA 0.9734625 0.8227931 NA NA -0.5524167 -0.2875102 NA 0.8981278 NA -0.4199635 NA FALSE NA 0 -2.263 . synonymous_variant LOW DENND2A HGNC 22212 ENST00000496613 16/20 COSM1755124 1 NA CGA G,A 1.654e-05 7:140525775 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 missense_variant 1.27259 0.16201 0.05747 0.706298 0.8796235 0 0.9722313 TRUE NA ENSE00002382866_016 ENSE00002382866 016 7 140225492 140225661 - 59 42 69 G A 140225578 2901 84 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGATCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525777 140525778 140525778 exon 15 0.3571429 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGATCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 98 82 1 1 1 NA NA 0.9734625 0.8227931 NA NA 0.02653746 0.1772069 NA 0.8981278 NA 0.1018722 NA FALSE NA 1 3.743 rs61737086 synonymous_variant LOW DENND2A HGNC 22212 ENST00000496613 16/20 rs61737086 1 A:0.0495 A:0.171 A:0.0101 NA A:0 A:0 A:0.0153 A:0.128 A:0.0005 GGT G,A 0.014 7:140525778 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 missense_variant 1.364864 0.94367 0.87865 0.706298 0.9178454 0 0.9722313 TRUE 0.0116402 ENSE00002382866_017 ENSE00002382866 017 7 140225492 140225661 - 59 42 69 C T 140225583 2902 79 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGATTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525782 140525783 140525783 exon 10 0.2380952 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGATTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 581 378 0.8517833 0.9976502 0.9247168 NA NA 0.9734625 0.8227931 NA NA -0.1216793 0.1748571 NA 0.8981278 NA 0.02658893 NA FALSE NA 1 7.346 . missense_variant MODERATE DENND2A HGNC 22212 ENST00000496613 16/20 1 deleterious(0.02) possibly_damaging(0.85) NA ACC C,T 8.271e-06 7:140525783 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 stop_gained 7.227307 0.97928 0.97274 0.706298 0.9966749 0 0.9722313 TRUE NA ENSE00002382866_018 ENSE00002382866 018 7 140225492 140225661 - 59 42 69 A G 140225587 2903 75 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTCGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525786 140525787 140525787 exon 6 0.1428571 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTCGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 483 21 0.9985425 0.9981669 0.9983547 NA NA 0.9734625 0.8227931 NA NA 0.02507993 0.1753738 NA 0.8981278 NA 0.1002269 NA FALSE NA 0.002 -1.262 . synonymous_variant LOW DENND2A HGNC 22212 ENST00000496613 16/20 rs542592596 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAA A,G 8.27e-06 7:140525787 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 missense_variant 0.488538 0.90505 0.21282 0.615465 0.9652942 0 0.9722313 TRUE 8.45087e-06 ENSE00002382866_019 ENSE00002382866 019 7 140225492 140225661 - 59 42 69 T C 140225601 2904 61 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCGTCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525800 140525801 140525801 upstr_intron -9 -0.115942 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCGTCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 488 470 0.8400239 0.9942932 0.9171585 NA NA 0.9734625 0.8227931 NA NA -0.1334386 0.1715001 NA 0.8981278 NA 0.0190307 NA FALSE NA 0 -0.14 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 15/19 rs561651686 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATG T,C 8.268e-06 7:140525801 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant 0.014458 0.2373 0.0176 0.074898 0.4258294 0.207714 0.9722313 TRUE NA ENSE00002382866_023 ENSE00002382866 023 7 140225492 140225661 - 59 42 69 C A 140225625 2908 37 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTTACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525824 140525825 140525825 upstr_intron -33 -0.4637681 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTTACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 63 68 1 0.9994384 0.9997192 NA NA 0.9734625 0.8227931 NA NA 0.02653746 0.1766453 NA 0.8981278 NA 0.1015914 NA FALSE NA 0 0.24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:140525825 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant 0.437087 0.29217 0.0929 0.074898 0.608812 0.207602 0.9722313 TRUE 9.25909e-06 ENSE00002382866_024 ENSE00002382866 024 7 140225492 140225661 - 59 42 69 C T 140225625 2909 37 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTAACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525824 140525825 140525825 upstr_intron -33 -0.4637681 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTAACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 1263 969 0.8689645 0.9953491 0.9321568 NA NA 0.9734625 0.8227931 NA NA -0.104498 0.172556 NA 0.8981278 NA 0.03402897 NA FALSE NA 0 0.24 NA NA NA DENND2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2A NA NA NA ENSG00000146966 ENSE00003476494 intron_variant 0.403221 0.24856 0.08474 0.074898 0.5965476 0.207602 0.9722313 TRUE 9.25909e-06 ENSE00002382866_025 ENSE00002382866 025 7 140225492 140225661 - 59 42 69 C G 140225627 2910 35 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGCTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525826 140525827 140525827 upstr_intron -35 -0.4927536 AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGCTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 546 190 0.9812351 0.9741755 0.9777053 NA NA 0.9734625 0.8227931 NA NA 0.007772585 0.1513824 NA 0.8981278 NA 0.07957749 NA FALSE NA 0 -1.398 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 15/19 rs377002476 1 NA G:0.0002 G:0 ACC C,G 5.787e-05 7:140525827 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant 0.138638 0.2394 0.07353 0.074898 0.6738393 0.207602 0.9722313 TRUE 2.79723e-05 ENSE00002382866_026 ENSE00002382866 026 7 140225492 140225661 - 59 42 69 G A 140225630 2911 32 AGGCTATGAGTCCATCCCTATCCCAGAAGCCTTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525829 140525830 140525830 upstr_intron -38 -0.5362319 AGGCTATGAGTCCATCCCTATCCCAGAAGCCTTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 76 1801 1 0.998722 0.999361 NA NA 0.9734625 0.8227931 NA NA 0.02653746 0.1759289 NA 0.8981278 NA 0.1012332 NA FALSE NA 0.929 1.464 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 15/19 1 NA AGG G,A 2.48e-05 7:140525830 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant 0.395601 0.27003 0.59725 0.074898 0.7818607 0.206607 0.9722313 TRUE NA ENSE00002382866_027 ENSE00002382866 027 7 140225492 140225661 - 59 42 69 C A 140225633 2912 29 AGGCTATGAGTCCATCCCTATCCCAGAATCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525832 140525833 140525833 upstr_intron -41 -0.5797101 AGGCTATGAGTCCATCCCTATCCCAGAATCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 20 413 0.9922475 0.9919661 0.9921068 NA NA 0.9734625 0.8227931 NA NA 0.01878495 0.169173 NA 0.8981278 NA 0.093979 NA FALSE NA 0.009 -0.358 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 15/19 1 NA GCT C,A 8.268e-06 7:140525833 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant 0.551157 0.21717 0.0403 0.074898 0.7562595 0.206607 0.9722313 TRUE NA ENSE00002382866_028 ENSE00002382866 028 7 140225492 140225661 - 59 42 69 T G 140225635 2913 27 AGGCTATGAGTCCATCCCTATCCCAGCAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 140525834 140525835 140525835 upstr_intron -43 -0.6086957 AGGCTATGAGTCCATCCCTATCCCAGCAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG mutant NA NA NA NA NA 1260 1301 0.9679687 0.9582126 0.9630906 NA NA 0.9734625 0.8227931 NA NA -0.00549385 0.1354195 NA 0.8981278 NA 0.06496281 NA FALSE NA 0 0.151 . intron_variant MODIFIER DENND2A HGNC 22212 ENST00000496613 15/19 1 NA TTC T,G 8.269e-06 7:140525835 DENND2A HGNC Symbol protein_coding 155573 ENSG00000146966 ENSE00003476494 intron_variant 0.403187 0.2789 0.14082 0.074898 0.7220451 0.206607 0.9722313 TRUE 4.79966e-06 ENSE00002382866_BRK ENSE00002382866 BRK 7 140225492 140225661 - 59 42 69 A,G; T,T NA NA NA AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATTTGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGCCGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG 140525691 140525861 NA NA NA NA NA NA AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATTTGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGCCGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG AGGCTATGAGTCCATCCCTATCCCAGAAGCCCTGGTGACAGTAACAGTCCCTTTCGTCTCATCTCATAGGTCCTTGTGGTTGACCTCGTCAACAGCCGGTTCCTCAGACAGGTGAGTGAGGCCAGCGACGGCCTCCTGCTCCCTTTGTCTTTACCTATTTGTTGTTTGGG control NA NA NA NA NA 694 1076 0.008798086 0.1476029 0.07820047 NA NA 0.9734625 0.8227931 NA NA -0.9646645 -0.6751903 NA 0.8981278 NA -0.8199274 NA TRUE NA NA NA NA NA NA DENND2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DENND2A NA NA NA ENSG00000146966 ENSE00003476494 NA NA NA NA NA NA NA 0.9722313 TRUE NA ENSE00002383321_000 ENSE00002383321 000 1 161187959 161188128 + 72 36 62 NA NA NA NA NA TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 NA NA NA NA NA NA TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT natural NA NA NA NA NA 5048 4247 0.9120416 0.9849759 0.9485088 NA NA 0.9120416 0.9849759 NA NA 0 0 NA 0.9485088 NA 0 NA FALSE NA NA NA NA NA NA NDUFS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCER1G NA NA NA ENSG00000158869 ENSE00003609913 NA NA NA NA NA NA NA 0.6358456 FALSE NA ENSE00002383321_002 ENSE00002383321 002 1 161187959 161188128 + 72 36 62 C T 161187990 4084 32 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCTATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218199 161218200 161218200 upstr_intron -41 -0.5555556 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCTATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 19 746 1 0.988383 0.9941915 NA NA 0.9120416 0.9849759 NA NA 0.08795837 0.003407053 NA 0.9485088 NA 0.04568271 NA FALSE NA 0 -0.156 rs146703111 downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 rs146703111 1 T:0.0026 T:0.0091 T:0.0014 NA T:0 T:0 T:0 T:0.0061 T:0 CCA C,T 0.0006095 1:161218200 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 2.518324 0.25397 0.05513 0.078448 0.853023 0.300834 0.6358456 FALSE 0.000455203 ENSE00002383321_003 ENSE00002383321 003 1 161187959 161188128 + 72 36 62 T G 161187992 4085 34 AGAGCCCCAGGAGGGCTGAGGGTCTGAAAAGTTGTCCACACCAGGTGTAGGAGGGTCCATACCTCATAGCTGGTTATAGCTGCCTTTCGCACTTGGATCTGGAATGGGGGAAAGGTTATCAGTAAAGGGTAAGTTACTGGCCCATCCCCCTTCCCTCCAAACTTTGTGGA 161218168 161218338 161218201 161218202 161218202 upstr_intron -39 -0.5277778 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCAGTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant 41 22 0.85 0.85 0.85 142 237 0.9842166 0.9779223 0.9810695 NA NA 0.9120416 0.9849759 NA NA 0.07217499 -0.007053639 NA 0.9485088 NA 0.03256068 NA FALSE NA 0 -1.208 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 rs371703601 1 NA G:0.0002 G:0 ATT C,G 8.236e-06 1:161218202 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 2.332246 0.23929 0.05236 0.078448 0.7828924 0.283458 0.6358456 FALSE 8.12744e-06 ENSE00002383321_004 ENSE00002383321 004 1 161187959 161188128 + 72 36 62 A G 161187999 4086 41 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTGCCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218208 161218209 161218209 upstr_intron -32 -0.4305556 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTGCCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant 12 16 0.85 0.85 0.85 663 71 0.9736718 0.9487366 0.9612042 NA NA 0.9120416 0.9849759 NA NA 0.06163017 -0.03623934 NA 0.9485088 NA 0.01269542 NA FALSE NA 0 -0.209 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA TAC A,G 8.236e-06 1:161218209 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 1.92227 0.2634 0.05864 0.078448 0.7473699 0.383706 0.6358456 FALSE 4.06362e-06 ENSE00002383321_005 ENSE00002383321 005 1 161187959 161188128 + 72 36 62 C T 161188001 4087 43 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACTCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218210 161218211 161218211 upstr_intron -30 -0.4027778 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACTCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 1321 164 0.9407486 1 0.9703743 NA NA 0.9120416 0.9849759 NA NA 0.02870696 0.01502406 NA 0.9485088 NA 0.02186551 NA FALSE NA 0 -1.111 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA CCC C,T 8.236e-06 1:161218211 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 1.872314 0.22527 0.04172 0.078448 0.7845998 0.349508 0.6358456 FALSE 4.06326e-06 ENSE00002383321_006 ENSE00002383321 006 1 161187959 161188128 + 72 36 62 C A 161188014 4088 56 AGAGCCCCAGGAGGGCTGAGGGTCTGAAAAGTTGTCCACACCAGGTGTAGGAGGGTCCATACCTCATAGCTGGTTATAGCTGCCTTTCGCACTTGGATCTGGAATGGGGGAAAGTTTATCAGTAAAGGGTAAGTTAATGGCCCATCCCCCTTCCCTCCAAACTTTGTGGA 161218168 161218338 161218223 161218224 161218224 upstr_intron -17 -0.2222222 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAAACTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 550 2443 0.9793554 0.9510319 0.9651937 NA NA 0.9120416 0.9849759 NA NA 0.06731381 -0.03394405 NA 0.9485088 NA 0.01668488 NA FALSE NA 0.003 0.473 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA ACC C,A 8.236e-06 1:161218224 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 1.952859 0.29419 0.12189 0.078448 0.7735401 0.461 0.6358456 FALSE 4.062e-06 ENSE00002383321_007 ENSE00002383321 007 1 161187959 161188128 + 72 36 62 C A 161188015 4089 57 AGAGCCCCAGGAGGGCTGAGGGTCTGAAAAGTTGTCCACACCAGGTGTAGGAGGGTCCATACCTCATAGCTGGTTATAGCTGCCTTTCGCACTTGGATCTGGAATGGGGGAAATGTTATCAGTAAAGGGTAAGTTAATGGCCCATCCCCCTTCCCTCCAAACTTTGTGGA 161218168 161218338 161218224 161218225 161218225 upstr_intron -16 -0.2083333 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACATTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 211 392 0.999273 0.983426 0.9913495 NA NA 0.9120416 0.9849759 NA NA 0.08723132 -0.001549913 NA 0.9485088 NA 0.0428407 NA FALSE NA 0.062 0.18 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA CCT C,A 1.647e-05 1:161218225 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 1.502752 0.2413 0.11282 0.078448 0.7532753 0.461 0.6358456 FALSE 1.21861e-05 ENSE00002383321_009 ENSE00002383321 009 1 161187959 161188128 + 72 36 62 C G 161188040 4091 82 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGGGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218249 161218250 161218250 exon 10 0.2777778 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGGGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant 134 201 0.8458986 0.85 0.8479493 1248 740 0.8762924 0.9432724 0.9097824 NA NA 0.9120416 0.9849759 NA NA -0.03574923 -0.04170357 NA 0.9485088 NA -0.0387264 NA FALSE NA 1 1.419 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA GCG C,G 8.236e-06 1:161218250 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 missense_variant 3.275236 0.9438 0.8439 0.600919 0.9942031 0 0.6358456 FALSE 4.06124e-06 ENSE00002383321_010 ENSE00002383321 010 1 161187959 161188128 + 72 36 62 A G 161188062 4092 104 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTGTGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218271 161218272 161218272 exon -5 0.8888889 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTGTGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 847 607 0.943352 0.8892447 0.9162983 NA NA 0.9120416 0.9849759 NA NA 0.03131041 -0.09573129 NA 0.9485088 NA -0.03221044 NA FALSE NA 0.907 0.294 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA TAT A,G 8.236e-06 1:161218272 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 missense_variant 2.587439 0.93038 0.49283 0.538715 0.996732 0 0.6358456 FALSE 1.62438e-05 ENSE00002383321_011 ENSE00002383321 011 1 161187959 161188128 + 72 36 62 A G 161188069 4093 111 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTGTGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218278 161218279 161218279 downstr_intron 3 1.04918 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTGTGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant 59 63 0.85 0.7639092 0.8069546 NA NA NA NA NA NA NA 0.9120416 0.9849759 NA NA NA NA NA 0.9485088 NA NA NA NA NA 1 2.754 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA TAT A,G 8.236e-06 1:161218279 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 splice_region_variant 2.22189 0.95948 0.81398 0.071141 0.9706371 0.976199 0.6358456 FALSE 4.06091e-06 ENSE00002383321_012 ENSE00002383321 012 1 161187959 161188128 + 72 36 62 C A 161188074 4094 116 AGAGCCCCAGGAGGGCTGAGGGTCTGAAAAGTTGTCCACACCAGGTGTAGGAGGTTCCATACCTCATAGCTGGTTATAGCTGCCTTTCGCACTTGGATCTGGAATGGGGGAAAGGTTATCAGTAAAGGGTAAGTTAATGGCCCATCCCCCTTCCCTCCAAACTTTGTGGA 161218168 161218338 161218283 161218284 161218284 downstr_intron 8 1.131148 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGAACCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 469 49 0.9852214 1 0.9926107 NA NA 0.9120416 0.9849759 NA NA 0.07317976 0.01502406 NA 0.9485088 NA 0.04410191 NA FALSE NA 0 -0.202 rs191740339 downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 rs191740339 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0016 A:0 ACC C,A 0.0001647 1:161218284 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 splice_region_variant 1.644113 0.29452 0.06263 0.071141 0.8268121 0.303084 0.6358456 FALSE 0.000125905 ENSE00002383321_013 ENSE00002383321 013 1 161187959 161188128 + 72 36 62 C T 161188075 4095 117 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACTCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218284 161218285 161218285 downstr_intron 9 1.147541 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACTCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 256 1250 0.9751381 0.9869299 0.981034 NA NA 0.9120416 0.9849759 NA NA 0.06309649 0.001953999 NA 0.9485088 NA 0.03252525 NA FALSE NA 0 0.378 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA CCC C,T 8.236e-06 1:161218285 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 1.909132 0.34693 0.03935 0.071141 0.8066758 0.303084 0.6358456 FALSE NA ENSE00002383321_014 ENSE00002383321 014 1 161187959 161188128 + 72 36 62 C A 161188076 4096 118 AGAGCCCCAGGAGGGCTGAGGGTCTGAAAAGTTGTCCACACCAGGTGTAGGATGGTCCATACCTCATAGCTGGTTATAGCTGCCTTTCGCACTTGGATCTGGAATGGGGGAAAGGTTATCAGTAAAGGGTAAGTTAATGGCCCATCCCCCTTCCCTCCAAACTTTGTGGA 161218168 161218338 161218285 161218286 161218286 downstr_intron 10 1.163934 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCATCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 1182 1159 0.990451 0.9998635 0.9951572 NA NA 0.9120416 0.9849759 NA NA 0.07840935 0.01488758 NA 0.9485088 NA 0.04664846 NA FALSE NA 0 0.247 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:161218286 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 1.809763 0.36045 0.08664 0.071141 0.8354591 0.337163 0.6358456 FALSE 0.00020308 ENSE00002383321_015 ENSE00002383321 015 1 161187959 161188128 + 72 36 62 C T 161188076 4097 118 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCTTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218285 161218286 161218286 downstr_intron 10 1.163934 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCTTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 920 621 0.9565395 0.9980145 0.977277 NA NA 0.9120416 0.9849759 NA NA 0.04449788 0.01303857 NA 0.9485088 NA 0.02876822 NA FALSE NA 0 0.247 NA NA NA NDUFS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCER1G NA NA NA ENSG00000158869 ENSE00003609913 intron_variant 1.758522 0.31736 0.11741 0.071141 0.811364 0.337163 0.6358456 FALSE 4.06161e-06 ENSE00002383321_016 ENSE00002383321 016 1 161187959 161188128 + 72 36 62 C A 161188079 4098 121 AGAGCCCCAGGAGGGCTGAGGGTCTGAAAAGTTGTCCACACCAGGTGTATGAGGGTCCATACCTCATAGCTGGTTATAGCTGCCTTTCGCACTTGGATCTGGAATGGGGGAAAGGTTATCAGTAAAGGGTAAGTTAATGGCCCATCCCCCTTCCCTCCAAACTTTGTGGA 161218168 161218338 161218288 161218289 161218289 downstr_intron 13 1.213115 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCATACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 481 598 0.4745001 0.3269018 0.4007009 NA NA 0.9120416 0.9849759 NA NA -0.4375416 -0.6580742 NA 0.9485088 NA -0.5478079 NA TRUE NA 0 0.196 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA CCT C,A 4.118e-05 1:161218289 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 1.617934 0.50382 0.12451 0.071141 0.8090563 0.945206 0.6358456 FALSE 2.03082e-05 ENSE00002383321_017 ENSE00002383321 017 1 161187959 161188128 + 72 36 62 C T 161188082 4099 124 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTATACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218291 161218292 161218292 downstr_intron 16 1.262295 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTATACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant 102 239 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9120416 0.9849759 NA NA NA NA NA 0.9485088 NA NA NA NA NA 0 -0.225 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA ACA C,T 1.647e-05 1:161218292 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 0.374157 0.29124 0.09356 0.071141 0.8048372 0.104583 0.6358456 FALSE 2.03089e-05 ENSE00002383321_018 ENSE00002383321 018 1 161187959 161188128 + 72 36 62 A G 161188097 4100 139 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAGCTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218306 161218307 161218307 downstr_intron 31 1.508197 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAGCTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 578 482 0.8009023 0.806849 0.8038756 NA NA 0.9120416 0.9849759 NA NA -0.1111394 -0.1781269 NA 0.9485088 NA -0.1446331 NA FALSE NA 0 -3.14 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 rs375647631 1 NA G:0 G:0.0001 AAC A,G 0.0001647 1:161218307 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant -0.071276 0.22814 0.01754 0.084569 0.5327894 0.0838225 0.6358456 FALSE 0.000162524 ENSE00002383321_019 ENSE00002383321 019 1 161187959 161188128 + 72 36 62 C T 161188108 4101 150 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACTCTCAGCCCTCCTGGGGCTCT 161218168 161218338 161218317 161218318 161218318 downstr_intron 42 1.688525 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACTCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 117 358 0.9854225 0.9989298 0.9921762 NA NA 0.9120416 0.9849759 NA NA 0.07338087 0.01395388 NA 0.9485088 NA 0.04366737 NA FALSE NA 0 -0.611 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA CCC C,T 8.236e-06 1:161218318 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 0.248245 0.25395 0.00775 0.084569 0.629185 0.0839277 0.6358456 FALSE 4.06507e-06 ENSE00002383321_021 ENSE00002383321 021 1 161187959 161188128 + 72 36 62 T C 161188110 4103 152 AGAGCCCCAGGAGGGCTGGGGGTCTGAAAAGTTGTCCACACCAGGTGTAGGAGGGTCCATACCTCATAGCTGGTTATAGCTGCCTTTCGCACTTGGATCTGGAATGGGGGAAAGGTTATCAGTAAAGGGTAAGTTAATGGCCCATCCCCCTTCCCTCCAAACTTTGTGGA 161218168 161218338 161218319 161218320 161218320 downstr_intron 44 1.721311 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCCCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant 27 54 0.85 0.85 0.85 171 397 0.9685858 0.8306165 0.8996012 NA NA 0.9120416 0.9849759 NA NA 0.05654419 -0.1543594 NA 0.9485088 NA -0.04890762 NA FALSE NA 0 0.132 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA CTC T,C 8.236e-06 1:161218320 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 0.077287 0.42707 0.11378 0.093781 0.7297316 0.0839277 0.6358456 FALSE 4.0654e-06 ENSE00002383321_022 ENSE00002383321 022 1 161187959 161188128 + 72 36 62 C T 161188111 4104 153 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTTAGCCCTCCTGGGGCTCT 161218168 161218338 161218320 161218321 161218321 downstr_intron 45 1.737705 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTTAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant NA NA NA NA NA 335 1135 0.9819567 0.9820555 0.9820061 NA NA 0.9120416 0.9849759 NA NA 0.0699151 -0.002920417 NA 0.9485088 NA 0.03349734 NA FALSE NA 0 -0.619 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 1 NA TCA C,T 1.647e-05 1:161218321 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 0.357124 0.28683 0.04246 0.093781 0.7312431 0.0839277 0.6358456 FALSE 1.21963e-05 ENSE00002383321_023 ENSE00002383321 023 1 161187959 161188128 + 72 36 62 C A 161188116 4105 158 AGAGCCCCAGGATGGCTGAGGGTCTGAAAAGTTGTCCACACCAGGTGTAGGAGGGTCCATACCTCATAGCTGGTTATAGCTGCCTTTCGCACTTGGATCTGGAATGGGGGAAAGGTTATCAGTAAAGGGTAAGTTAATGGCCCATCCCCCTTCCCTCCAAACTTTGTGGA 161218168 161218338 161218325 161218326 161218326 downstr_intron 50 1.819672 TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCATCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT mutant 15 27 0.85 0.9299449 0.8899724 NA NA NA NA NA NA NA 0.9120416 0.9849759 NA NA NA NA NA 0.9485088 NA NA NA NA NA 0 -0.018 . downstream_gene_variant MODIFIER NDUFS2 HGNC 7708 ENST00000468828 rs370280719 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0003 CCT C,A 0.0001812 1:161218326 FCER1G HGNC Symbol protein_coding 5465 ENSG00000158869 ENSE00003609913 intron_variant 0.451915 0.36379 0.11741 0.093781 0.734487 0.0839277 0.6358456 FALSE 0.000150504 ENSE00002383321_BRK ENSE00002383321 BRK 1 161187959 161188128 + 72 36 62 A,G; T,T NA NA NA TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCTTATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGCCATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT 161218168 161218338 NA NA NA NA NA NA TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCTTATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGCCATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT TCCACAAAGTTTGGAGGGAAGGGGGATGGGCCATTAACTTACCCTTTACTGATAACCTTTCCCCCATTCCAGATCCAAGTGCGAAAGGCAGCTATAACCAGCTATGAGGTATGGACCCTCCTACACCTGGTGTGGACAACTTTTCAGACCCTCAGCCCTCCTGGGGCTCT control NA NA NA NA NA 160 254 0 0 0 NA NA 0.9120416 0.9849759 NA NA -0.9120416 -0.9849759 NA 0.9485088 NA -0.9485088 NA TRUE NA NA NA NA NA NA NDUFS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FCER1G NA NA NA ENSG00000158869 ENSE00003609913 NA NA NA NA NA NA NA 0.6358456 FALSE NA ENSE00002383533_000 ENSE00002383533 000 2 130934089 130934258 - 38 84 48 NA NA NA NA NA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 NA NA NA NA NA NA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA natural 10 13 1 1 1 385 382 0.9988038 1 0.9994019 1 1 0.9988038 1 0 0 0 0 1 0.9994019 0 0 0 FALSE FALSE NA NA NA NA NA SMPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMPD4 NA NA NA ENSG00000136699 ENSE00003625594 NA NA NA NA NA NA NA 0.006058046 FALSE NA ENSE00002383533_001 ENSE00002383533 001 2 130934089 130934258 - 38 84 48 T C 130934107 2675 152 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCGTGAGTGTCAGTGTGGCCA 130176515 130176685 130176533 130176534 130176534 downstr_intron 20 1.540541 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCGTGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 348 349 0.9941424 0.9998909 0.9970166 1 1 0.9988038 1 NA NA -0.004661412 -0.0001091195 1 0.9994019 NA -0.002385266 NA FALSE NA 0 -0.802 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 1 NA ATG T,C 2.471e-05 2:130176534 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 intron_variant 0.179064 0.0409 0.00077 0 0.6878888 0.0565755 0.006058046 FALSE NA ENSE00002383533_003 ENSE00002383533 003 2 130934089 130934258 - 38 84 48 T C 130934116 2677 143 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAGCTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176542 130176543 130176543 downstr_intron 11 1.297297 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAGCTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 36 263 1 1 1 1 1 0.9988038 1 NA NA 0.001196238 0 1 0.9994019 NA 0.0005981189 NA FALSE NA 0 -2.903 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 rs566232502 1 C:0.0006 C:0 C:0 NA C:0 C:0 C:0.0031 GTT T,C 0.0003212 2:130176543 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 intron_variant -0.251448 0.04234 0.0026 0.139865 0.5971342 0.0565755 0.006058046 FALSE 0.000228388 ENSE00002383533_011 ENSE00002383533 011 2 130934089 130934258 - 38 84 48 G A 130934139 2685 120 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCTAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176565 130176566 130176566 exon -13 0.8571429 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCTAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 93 39 1 1 1 1 1 0.9988038 1 NA NA 0.001196238 0 1 0.9994019 NA 0.0005981189 NA FALSE NA 1 0.921 rs150073700 upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 rs150073700 1 NA A:0.0005 A:0.0006 TGG G,A 0.0002718 2:130176566 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 synonymous_variant 0.326223 0.91595 0.72922 0.722319 0.5315171 0 0.006058046 FALSE 0.000322652 ENSE00002383533_014 ENSE00002383533 014 2 130934089 130934258 - 38 84 48 G A 130934153 2688 106 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTTACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176579 130176580 130176580 exon -27 0.6904762 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTTACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 412 1198 0.9939535 0.9975763 0.9957649 1 1 0.9988038 1 NA NA -0.004850272 -0.00242374 1 0.9994019 NA -0.003637006 NA FALSE NA 1 1.646 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 rs375945314 1 NA A:0 A:0.0001 TGA G,A 4.118e-05 2:130176580 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 missense_variant 1.949427 0.92812 0.63855 0.722319 0.9807224 0 0.006058046 FALSE 5.7066e-05 ENSE00002383533_016 ENSE00002383533 016 2 130934089 130934258 - 38 84 48 A G 130934176 2690 83 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACCGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176602 130176603 130176603 exon 35 0.4166667 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACCGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 111 165 1 1 1 1 1 0.9988038 1 NA NA 0.001196238 0 1 0.9994019 NA 0.0005981189 NA FALSE NA 0 -1.85 rs182858926 upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 rs182858926 1 G:0.0008 G:0 G:0.0058 NA G:0 G:0 G:0 CAG A,G 4.118e-05 2:130176603 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 missense_variant 2.139261 0.09801 0.00828 0.722319 0.9178268 0 0.006058046 FALSE 2.4432e-05 ENSE00002383533_019 ENSE00002383533 019 2 130934089 130934258 - 38 84 48 G A 130934184 2693 75 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAATTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176610 130176611 130176611 exon 27 0.3214286 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAATTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 121 948 0.9695175 1 0.9847587 1 1 0.9988038 1 NA NA -0.02928631 0 1 0.9994019 NA -0.01464315 NA FALSE NA 0.003 0.34 NA NA NA SMPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:130176611 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 synonymous_variant -1.045314 0.11034 0.04308 0.722319 0.3938301 0 0.006058046 FALSE 4.07505e-06 ENSE00002383533_021 ENSE00002383533 021 2 130934089 130934258 - 38 84 48 T C 130934185 2695 74 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAGCTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176611 130176612 130176612 exon 26 0.3095238 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAGCTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 57 568 0.95 1 0.975 1 1 0.9988038 1 NA NA -0.04880376 0 1 0.9994019 NA -0.02440188 NA FALSE NA 0 -0.058 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 rs561899575 1 NA GTT T,C 8.236e-06 2:130176612 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 missense_variant -1.551883 0.08734 0.01098 0.722319 0.5895915 0 0.006058046 FALSE 4.07734e-06 ENSE00002383533_022 ENSE00002383533 022 2 130934089 130934258 - 38 84 48 C G 130934196 2696 63 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAACGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176622 130176623 130176623 exon 15 0.1785714 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAACGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 28 224 1 1 1 1 1 0.9988038 1 NA NA 0.001196238 0 1 0.9994019 NA 0.0005981189 NA FALSE NA 0 -1.208 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 rs372073862 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CCT C,G 4.942e-05 2:130176623 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 missense_variant 1.744404 0.09757 0.05082 0.722319 0.9443446 0 0.006058046 FALSE 3.26469e-05 ENSE00002383533_024 ENSE00002383533 024 2 130934089 130934258 - 38 84 48 A T 130934221 2698 38 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGATTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176647 130176648 130176648 upstr_intron -11 -0.2083333 ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGATTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 311 137 1 1 1 1 1 0.9988038 1 NA NA 0.001196238 0 1 0.9994019 NA 0.0005981189 NA FALSE NA 0.003 1.058 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 rs555849522 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 AAC A,T 8.236e-06 2:130176648 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 intron_variant 0.940821 0.1022 0.07477 0.093295 0.7904582 0.0911545 0.006058046 FALSE 8.25457e-06 ENSE00002383533_026 ENSE00002383533 026 2 130934089 130934258 - 38 84 48 C A 130934239 2700 20 ATTCTGCTGTGTTACAGATTTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176665 130176666 130176666 upstr_intron -29 -0.5833333 ATTCTGCTGTGTTACAGATTTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 36 1296 1 0.9989358 0.9994679 1 1 0.9988038 1 NA NA 0.001196238 -0.00106419 1 0.9994019 NA 6.602382e-05 NA FALSE NA 0 -1.257 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 rs377530166 1 NA A:0 A:0.0001 ACA C,A 1.647e-05 2:130176666 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 intron_variant 1.086367 0.27208 0.03322 0.099367 0.8551124 0.0492502 0.006058046 FALSE 8.42453e-06 ENSE00002383533_027 ENSE00002383533 027 2 130934089 130934258 - 38 84 48 A G 130934240 2701 19 ATTCTGCTGTGTTACAGACGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176666 130176667 130176667 upstr_intron -30 -0.6041667 ATTCTGCTGTGTTACAGACGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 60 66 1 1 1 1 1 0.9988038 1 NA NA 0.001196238 0 1 0.9994019 NA 0.0005981189 NA FALSE NA 0.001 0.349 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 1 NA CAT A,G 8.236e-06 2:130176667 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 intron_variant 0.963217 0.27712 0.01706 0.099367 0.8745069 0.0492502 0.006058046 FALSE 2.1047e-05 ENSE00002383533_028 ENSE00002383533 028 2 130934089 130934258 - 38 84 48 C G 130934242 2702 17 ATTCTGCTGTGTTACACATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA 130176515 130176685 130176668 130176669 130176669 upstr_intron -32 -0.6458333 ATTCTGCTGTGTTACACATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA ATTCTGCTGTGTTACAGATGTTGAGATTTTGTCTTTGTTTTTCCACAGTGGTTTGCTAAGAAGGCCATTTTCAACTCTCCACTGGAGGCTGCTATGGCGTTCCCTCACCTGCAGCAGCCCAGCTTTCTACTGGTAAATATCAACTGCTTGCATGAGTGTCAGTGTGGCCA mutant NA NA NA NA NA 3539 25 0.9997788 0.9936205 0.9966997 1 1 0.9988038 1 NA NA 0.0009750864 -0.006379457 1 0.9994019 NA -0.002702185 NA FALSE NA 0.003 0.408 . upstream_gene_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 1 NA TCT C,G 8.237e-06 2:130176669 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003625594 intron_variant 0.704844 0.18001 0.06311 0.099367 0.8276106 0.0492502 0.006058046 FALSE 4.25478e-06 ENSE00002383640_000 ENSE00002383640 000 2 234231532 234231701 + 60 60 50 NA NA NA NA NA ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA 233322885 233323055 NA NA NA NA NA NA ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA natural NA NA NA NA NA 3158 1627 0.8687097 0.9710658 0.9198877 NA NA 0.8687097 0.9710658 NA NA 0 0 NA 0.9198877 NA 0 NA FALSE NA NA NA NA NA NA SAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAG NA NA NA ENSG00000130561 ENSE00003538916 NA NA NA NA NA NA NA 1.568035e-08 FALSE NA ENSE00002383640_002 ENSE00002383640 002 2 234231532 234231701 + 60 60 50 A G 234231636 5408 105 ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCGCAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA 233322885 233323055 233322989 233322990 233322990 exon -16 0.75 ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCGCAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA mutant NA NA NA NA NA 257 676 1 0.9999437 0.9999718 NA NA 0.8687097 0.9710658 NA NA 0.1312903 0.02887793 NA 0.9198877 NA 0.08008413 NA FALSE NA 0 -3.305 rs150046934 synonymous_variant LOW SAG HGNC 10521 ENST00000447536 6/7 rs150046934 1 G:0.0016 G:0.0061 G:0 NA G:0 G:0 G:0 G:0.0043 G:0 CAC A,G 0.0004075 2:233322990 SAG HGNC Symbol protein_coding 39239 ENSG00000130561 ENSE00003538916 synonymous_variant -1.247964 0.04658 0.01126 0.446893 0.3290595 0 1.568035e-08 FALSE 0.000347902 ENSE00002383640_005 ENSE00002383640 005 2 234231532 234231701 + 60 60 50 A G 234231673 5411 142 ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCGTGGTTTTATGGATTTGTTCATTCCTTCA 233322885 233323055 233323026 233323027 233323027 downstr_intron 22 1.44898 ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCGTGGTTTTATGGATTTGTTCATTCCTTCA ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA mutant NA NA NA NA NA 83 54 0.9756727 1 0.9878363 NA NA 0.8687097 0.9710658 NA NA 0.106963 0.02893425 NA 0.9198877 NA 0.06794862 NA FALSE NA 0 -0.366 . intron_variant MODIFIER SAG HGNC 10521 ENST00000447536 6/6 rs369024969 1 NA G:0 G:0.0002 CAT A,G 8.441e-05 2:233323027 SAG HGNC Symbol protein_coding 39239 ENSG00000130561 ENSE00003538916 intron_variant 0.018297 0.30555 0.02397 0.087844 0.5781112 0.111679 1.568035e-08 FALSE 9.99882e-05 ENSE00002383640_BRK ENSE00002383640 BRK 2 234231532 234231701 + 60 60 50 A,G; T,T NA NA NA ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACTTTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGCCTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA 233322885 233323055 NA NA NA NA NA NA ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACTTTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGCCTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA ATTACTTAATGGAACAGCCCCTTCTGAAATAAATGATTTTTTATTTGTTTCTTTCCACAGTTTCCTGACTACTTGCCCTGTTCAGTGATGTTGCAGCCAGCTCCACAAGATTCAGGGAAGGTTAGTTCAAGAAGAAATGCCATGGTTTTATGGATTTGTTCATTCCTTCA control NA NA NA NA NA 97 1272 0 0.02035349 0.01017674 NA NA 0.8687097 0.9710658 NA NA -0.8687097 -0.9507123 NA 0.9198877 NA -0.909711 NA TRUE NA NA NA NA NA NA SAG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SAG NA NA NA ENSG00000130561 ENSE00003538916 NA NA NA NA NA NA NA 1.568035e-08 FALSE NA ENSE00002384070_000 ENSE00002384070 000 7 137363271 137363440 - 32 96 42 NA NA NA NA NA CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 NA NA NA NA NA NA TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG natural 34 21 0.9931254 0.9974255 0.9952754 1775 2103 0.9340462 0.8794719 0.9067591 0.9931254 0.9974255 0.9340462 0.8794719 0 0 0 0 0.9952754 0.9067591 0 0 0 FALSE FALSE NA NA NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00003588269 NA NA NA NA NA NA NA 0.7380162 FALSE NA ENSE00002384070_001 ENSE00002384070 001 7 137363271 137363440 - 32 96 42 C T 137363282 2791 159 CCTTCCCCCAGTAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678535 137678536 137678536 downstr_intron 21 1.677419 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTACTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 92 93 1 1 1 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.1205281 0.9952754 0.9067591 NA 0.09324094 NA FALSE NA 0 0.465 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 3/33 1 NA GCA C,T 8.236e-06 7:137678536 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 intron_variant 0.049429 0.12206 0.0233 0.074636 0.6166733 0.0448725 0.7380162 FALSE 8.13623e-06 ENSE00002384070_006 ENSE00002384070 006 7 137363271 137363440 - 32 96 42 C T 137363292 2796 149 CCTTCCCCCAGCAAGACGGAGTGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678545 137678546 137678546 downstr_intron 11 1.354839 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCACTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 98 241 0.9984326 0.9998419 0.9991373 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06438639 0.12037 0.9952754 0.9067591 NA 0.09237822 NA FALSE NA 0 -0.085 NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:137678546 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 intron_variant 0.06241 0.20416 0.03772 0.074636 0.5491777 0.052078 0.7380162 FALSE 2.43896e-05 ENSE00002384070_009 ENSE00002384070 009 7 137363271 137363440 - 32 96 42 T G 137363303 2799 138 CCTTCCCCCAGCAAGACGGAGCGCACACTCACGGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678556 137678557 137678557 exon -1 1 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCCGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 120 160 0.8875828 1 0.9437914 0.9931254 0.9974255 0.9340462 0.8794719 NA NA -0.04646342 0.1205281 0.9952754 0.9067591 NA 0.03703235 NA FALSE NA 0.992 0.182 . splice_region_variant&synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 3/34 1 NA CTG T,G 8.236e-06 7:137678557 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 splice_region_variant 1.846611 0.97042 0.89432 0.553676 0.7866931 0 0.7380162 FALSE 4.06375e-06 ENSE00002384070_011 ENSE00002384070 011 7 137363271 137363440 - 32 96 42 G T 137363321 2801 120 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCATTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678574 137678575 137678575 exon -19 0.8125 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAAATGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 78 410 1 0.9990663 0.9995332 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.1195945 0.9952754 0.9067591 NA 0.09277412 NA FALSE NA 1 4.234 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 3/34 1 tolerated(0.15) benign(0.079) NA AGT G,T 8.236e-06 7:137678575 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 missense_variant 2.976522 0.98529 0.92941 0.553676 0.9917053 0 0.7380162 FALSE 4.06345e-06 ENSE00002384070_015 ENSE00002384070 015 7 137363271 137363440 - 32 96 42 C T 137363351 2805 90 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCTGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678604 137678605 137678605 exon 48 0.5 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCAGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 270 1141 1 0.9927346 0.9963673 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.1132627 0.9952754 0.9067591 NA 0.08960823 NA FALSE NA 0.015 -1.828 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 3/34 rs374229914&COSM3674839&COSM3674840&COSM3674841 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 CCG C,T 4.942e-05 7:137678605 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 synonymous_variant 2.091676 0.8801 0.03156 0.553676 0.7947188 0 0.7380162 FALSE 2.84493e-05 ENSE00002384070_019 ENSE00002384070 019 7 137363271 137363440 - 32 96 42 T C 137363358 2809 83 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGCTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678611 137678612 137678612 exon 41 0.4270833 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAGCGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 16 39 1 0.9505048 0.9752524 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.07103286 0.9952754 0.9067591 NA 0.06849332 NA FALSE NA 1 4.689 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 3/34 rs551927446 1 tolerated(0.68) benign(0.047) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 GTT T,C 2.471e-05 7:137678612 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 missense_variant 0.257063 0.97978 0.78866 0.553676 0.9808531 0 0.7380162 FALSE 2.84495e-05 ENSE00002384070_021 ENSE00002384070 021 7 137363271 137363440 - 32 96 42 T A 137363362 2811 79 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGACTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678615 137678616 137678616 exon 37 0.3854167 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGTCCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 14 499 1 1 1 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.1205281 0.9952754 0.9067591 NA 0.09324094 NA FALSE NA 1 6.683 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 3/34 1 deleterious(0.03) benign(0.268) NA GTC T,A 8.236e-06 7:137678616 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 missense_variant 2.606306 0.9882 0.95659 0.553676 0.9956733 0 0.7380162 FALSE 4.06464e-06 ENSE00002384070_023 ENSE00002384070 023 7 137363271 137363440 - 32 96 42 C T 137363389 2813 52 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCATGGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678642 137678643 137678643 exon 10 0.1041667 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCATGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 45 380 1 0.9993968 0.9996984 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.1199249 0.9952754 0.9067591 NA 0.09293936 NA FALSE NA 0.984 1.786 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 3/34 rs371221941&COSM1085970&COSM1596817 1 deleterious(0.01) possibly_damaging(0.488) NA T:0.0002 T:0 ACG C,T 3.295e-05 7:137678643 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 missense_variant 5.599141 0.96533 0.65613 0.553676 0.9982153 0 0.7380162 FALSE 3.25351e-05 ENSE00002384070_024 ENSE00002384070 024 7 137363271 137363440 - 32 96 42 G A 137363390 2814 51 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACAGCATTCTCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678643 137678644 137678644 exon 9 0.09375 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCTGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 195 34 0.99894 0.9953197 0.9971298 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06489376 0.1158478 0.9952754 0.9067591 NA 0.09037077 NA FALSE NA 0.001 -2.679 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 3/34 rs374165571 1 NA A:0 A:0.0001 CGG G,A 2.471e-05 7:137678644 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 synonymous_variant 1.383092 0.09858 0.01827 0.553676 0.560494 0 0.7380162 FALSE 2.84699e-05 ENSE00002384070_025 ENSE00002384070 025 7 137363271 137363440 - 32 96 42 T G 137363397 2815 44 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCGCCTGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678650 137678651 137678651 exon 2 0.02083333 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGCGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 13 26 1 1 1 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.1205281 0.9952754 0.9067591 NA 0.09324094 NA FALSE NA 1 6.683 . missense_variant&splice_region_variant MODERATE DGKI HGNC 2855 ENST00000288490 3/34 rs367735798 1 deleterious(0.03) possibly_damaging(0.757) NA G:0 G:0.0001 CTC T,G 8.236e-06 7:137678651 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 missense_variant 5.503585 0.98836 0.95883 0.553676 0.9961967 0 0.7380162 FALSE 8.13756e-06 ENSE00002384070_026 ENSE00002384070 026 7 137363271 137363440 - 32 96 42 C A 137363402 2816 39 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGAAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678655 137678656 137678656 upstr_intron -4 -0.07142857 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTTCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 90 20 1 1 1 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.1205281 0.9952754 0.9067591 NA 0.09324094 NA FALSE NA 0.011 -0.642 . splice_region_variant&intron_variant LOW DGKI HGNC 2855 ENST00000288490 2/33 1 NA GCA C,A 1.647e-05 7:137678656 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 splice_region_variant 1.617836 0.90029 0.06992 0.053691 0.7066471 0.432568 0.7380162 FALSE 1.62835e-05 ENSE00002384070_027 ENSE00002384070 027 7 137363271 137363440 - 32 96 42 A G 137363404 2817 37 CCTTCCCCCAGCAAGACGGAGCGCACACTCACTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCCTGCAGGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 137678657 137678658 137678658 upstr_intron -6 -0.1190476 TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCCTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG mutant NA NA NA NA NA 16 335 1 0.9318635 0.9659318 0.9931254 0.9974255 0.9340462 0.8794719 NA NA 0.06595378 0.05239162 0.9952754 0.9067591 NA 0.0591727 NA FALSE NA 0.968 0.729 . splice_region_variant&intron_variant LOW DGKI HGNC 2855 ENST00000288490 2/33 1 NA AAG A,G 8.236e-06 7:137678658 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003588269 splice_region_variant 1.214771 0.94833 0.18397 0.053691 0.8178607 0.508722 0.7380162 FALSE 4.0714e-06 ENSE00002384070_BRK ENSE00002384070 BRK 7 137363271 137363440 - 32 96 42 A,G; T,T NA NA NA CCTTCCCCCAGCAAGACGGAGCGCACACTCGGTGCAAATCTGACTTGGCAGTTCTCCTCTCCAAGGTAGCAGAGGTCTCCCGAGACGTTGGTCTCCAGCCACAGGTGTTCTCCATTCACGGCATTCTCAAGCAAGGAAAAGACCCACCTGACATCAATTTTTTTTTTCCA 137678524 137678694 NA NA NA NA NA NA TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCTTGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCACCGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG TGGAAAAAAAAAATTGATGTCAGGTGGGTCTTTTCCTTGCAGGAGAATGCCGTGAATGGAGAACACCTGTGGCTGGAGACCAACGTCTCGGGAGACCTCTGCTACCTTGGAGAGGAGAACTGCCAAGTCAGATTTGCAGTGAGTGTGCGCTCCGTCTTGCTGGGGGAAGG control 324 100 0 0 0 14 528 0 0 0 0.9931254 0.9974255 0.9340462 0.8794719 -0.9931254 -0.9974255 -0.9340462 -0.8794719 0.9952754 0.9067591 -0.9952754 -0.9067591 0.08851638 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00003588269 NA NA NA NA NA NA NA 0.7380162 FALSE NA ENSE00002384264_000 ENSE00002384264 000 6 70964987 70965156 - 53 54 63 NA NA NA NA NA ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 NA NA NA NA NA NA ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG natural NA NA NA NA NA 2019 619 0.9515665 0.914462 0.9330143 NA NA 0.9515665 0.914462 NA NA 0 0 NA 0.9330143 NA 0 NA FALSE NA NA NA NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A1 NA NA NA ENSG00000112280 ENSE00003517154 NA NA NA NA NA NA NA 4.774229e-15 FALSE NA ENSE00002384264_001 ENSE00002384264 001 6 70964987 70965156 - 53 54 63 C T 70964997 1767 160 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTATCATCTGCTG 70255283 70255453 70255293 70255294 70255294 downstr_intron 43 1.826923 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTATCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 202 36 1 1 1 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.08553795 NA 0.9330143 NA 0.06698574 NA FALSE NA 0.001 0.565 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 3/12 rs568922607 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 ACA C,T 8.236e-05 6:70255294 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant 0.283609 0.2074 0.11882 0.053691 0.5754511 0.206364 4.774229e-15 FALSE 6.09523e-05 ENSE00002384264_002 ENSE00002384264 002 6 70964987 70965156 - 53 54 63 A C 70965028 1768 129 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAAGTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255324 70255325 70255325 downstr_intron 12 1.230769 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAAGTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 929 361 0.8344152 0.9978032 0.9161092 NA NA 0.9515665 0.914462 NA NA -0.1171513 0.08334112 NA 0.9330143 NA -0.01690509 NA FALSE NA 0 0.541 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 3/12 1 NA AAT A,C 8.236e-06 6:70255325 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant 0.617991 0.1976 0.21173 0.053691 0.6192788 0.151315 4.774229e-15 FALSE 8.12698e-06 ENSE00002384264_003 ENSE00002384264 003 6 70964987 70965156 - 53 54 63 T C 70965036 1769 121 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGGGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255332 70255333 70255333 downstr_intron 4 1.076923 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGGGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 36 360 1 0.9754818 0.9877409 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.06101973 NA 0.9330143 NA 0.05472662 NA FALSE NA 1 3.72 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW COL9A1 HGNC 2217 ENST00000360859 3/12 1 NA CTC T,C 8.236e-06 6:70255333 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 splice_region_variant 1.467396 0.95893 0.95082 0.053691 0.9603811 0.955699 4.774229e-15 FALSE 4.06345e-06 ENSE00002384264_005 ENSE00002384264 005 6 70964987 70965156 - 53 54 63 T A 70965044 1771 113 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGTTAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255340 70255341 70255341 exon -5 0.9259259 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGTTAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 290 836 0.992975 1 0.9964875 NA NA 0.9515665 0.914462 NA NA 0.04140854 0.08553795 NA 0.9330143 NA 0.06347325 NA FALSE NA 1 4.799 rs142539130 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 3/13 rs142539130 1 NA A:0.0002 A:0.0003 ATC T,A 0.0002718 6:70255341 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 missense_variant 5.02922 0.95855 0.96487 0.706298 0.9431273 0 4.774229e-15 FALSE 0.000235671 ENSE00002384264_007 ENSE00002384264 007 6 70964987 70965156 - 53 54 63 T G 70965067 1773 90 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCCGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255363 70255364 70255364 exon 27 0.5 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCCGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 666 233 0.9906655 1 0.9953327 NA NA 0.9515665 0.914462 NA NA 0.03909898 0.08553795 NA 0.9330143 NA 0.06231847 NA FALSE NA 0.983 -0.015 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 3/13 1 NA CTG T,G 8.236e-06 6:70255364 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 synonymous_variant 0.904271 0.93133 0.75832 0.706298 0.6936657 0 4.774229e-15 FALSE 4.06365e-06 ENSE00002384264_009 ENSE00002384264 009 6 70964987 70965156 - 53 54 63 T C 70965082 1775 75 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGGCAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255378 70255379 70255379 exon 12 0.2222222 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGGCAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 513 180 1 0.9865868 0.9932934 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.07212477 NA 0.9330143 NA 0.06027914 NA FALSE NA 0.997 0.189 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 3/13 rs201066509 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GTC T,C 2.471e-05 6:70255379 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 synonymous_variant 0.152199 0.96518 0.78446 0.706298 0.7203201 0 4.774229e-15 FALSE 1.62558e-05 ENSE00002384264_012 ENSE00002384264 012 6 70964987 70965156 - 53 54 63 C A 70965093 1778 64 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGTGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255389 70255390 70255390 exon 1 0.01851852 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGTGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 19 1103 1 1 1 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.08553795 NA 0.9330143 NA 0.06698574 NA FALSE NA 1 6.369 NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70255390 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 missense_variant 7.488606 0.99288 0.98642 0.706298 0.9917971 0 4.774229e-15 FALSE 8.12982e-06 ENSE00002384264_014 ENSE00002384264 014 6 70964987 70965156 - 53 54 63 T C 70965099 1780 58 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCGTACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255395 70255396 70255396 upstr_intron -6 -0.07936508 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCGTACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 1120 633 1 1 1 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.08553795 NA 0.9330143 NA 0.06698574 NA FALSE NA 0 -0.993 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW COL9A1 HGNC 2217 ENST00000360859 2/12 1 NA ATG T,C 8.236e-06 6:70255396 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 splice_region_variant 0.995112 0.25869 0.07588 0.053691 0.8270786 0.354374 4.774229e-15 FALSE 4.0658e-06 ENSE00002384264_015 ENSE00002384264 015 6 70964987 70965156 - 53 54 63 A T 70965107 1781 50 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTATATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255403 70255404 70255404 upstr_intron -14 -0.2063492 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTATATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 357 763 1 0.9997927 0.9998963 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.08533062 NA 0.9330143 NA 0.06688207 NA FALSE NA 0.001 0.263 rs537940 intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 2/12 rs537940 1 T:0.0419 T:0.146 T:0.0231 NA T:0 T:0.001 T:0 T:0.128 T:0.0006 AAA A,T 0.013 6:70255404 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant 0.84578 0.28991 0.09991 0.053691 0.8010612 0.149847 4.774229e-15 FALSE 0.0102312 ENSE00002384264_016 ENSE00002384264 016 6 70964987 70965156 - 53 54 63 T C 70965111 1782 46 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAGATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255407 70255408 70255408 upstr_intron -18 -0.2698413 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAGATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 20 31 1 1 1 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.08553795 NA 0.9330143 NA 0.06698574 NA FALSE NA 0 -1.163 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 2/12 1 NA TTT T,C 8.236e-06 6:70255408 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant -0.472373 0.14549 0.01697 0.053691 0.3007264 0.149847 4.774229e-15 FALSE 8.13815e-06 ENSE00002384264_017 ENSE00002384264 017 6 70964987 70965156 - 53 54 63 T G 70965112 1783 45 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACACAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255408 70255409 70255409 upstr_intron -19 -0.2857143 ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACACAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 85 771 0.977628 1 0.988814 NA NA 0.9515665 0.914462 NA NA 0.02606151 0.08553795 NA 0.9330143 NA 0.05579973 NA FALSE NA 0.001 0.797 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 2/12 rs377339892 1 NA G:0 G:0.0003 TTT T,G 0.0001318 6:70255409 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant -0.127981 0.23558 0.07618 0.053691 0.3730431 0.149847 4.774229e-15 FALSE 0.000150551 ENSE00002384264_018 ENSE00002384264 018 6 70964987 70965156 - 53 54 63 A C 70965125 1784 32 ATTTTTAAAAGTTGATTAATAAGTAACTTTTGCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255421 70255422 70255422 upstr_intron -32 -0.4920635 ATTTTTAAAAGTTGATTAATAAGTAACTTTTGCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 2043 465 0.9955446 0.9945757 0.9950601 NA NA 0.9515665 0.914462 NA NA 0.04397807 0.08011364 NA 0.9330143 NA 0.06204586 NA FALSE NA 0 -0.017 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70255422 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant -0.50859 0.08575 0.00094 0.053691 0.2911556 0.149779 4.774229e-15 FALSE 0.808754 ENSE00002384264_019 ENSE00002384264 019 6 70964987 70965156 - 53 54 63 A T 70965125 1785 32 ATTTTTAAAAGTTGATTAATAAGTAACTTTTACTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255421 70255422 70255422 upstr_intron -32 -0.4920635 ATTTTTAAAAGTTGATTAATAAGTAACTTTTACTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 32 24 1 1 1 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.08553795 NA 0.9330143 NA 0.06698574 NA FALSE NA 0 -0.017 NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A1 NA NA NA ENSG00000112280 ENSE00003517154 intron_variant -0.466216 0.18648 0.00473 0.053691 0.222916 0.149779 4.774229e-15 FALSE 2.03731e-05 ENSE00002384264_020 ENSE00002384264 020 6 70964987 70965156 - 53 54 63 A T 70965126 1786 31 ATTTTTAAAAGTTGATTAATAAGTAACTTTATCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255422 70255423 70255423 upstr_intron -33 -0.5079365 ATTTTTAAAAGTTGATTAATAAGTAACTTTATCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 396 292 0.7599209 0.9177213 0.8388211 NA NA 0.9515665 0.914462 NA NA -0.1916456 0.00325925 NA 0.9330143 NA -0.09419318 NA FALSE NA 0.003 2.355 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 2/12 1 NA AAA A,T 4.942e-05 6:70255423 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant -0.123697 0.21917 0.36718 0.053691 0.4678114 0.149779 4.774229e-15 FALSE 2.44469e-05 ENSE00002384264_022 ENSE00002384264 022 6 70964987 70965156 - 53 54 63 T A 70965135 1788 22 ATTTTTAAAAGTTGATTAATATGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255431 70255432 70255432 upstr_intron -42 -0.6507937 ATTTTTAAAAGTTGATTAATATGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 77 157 1 1 1 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.08553795 NA 0.9330143 NA 0.06698574 NA FALSE NA 0.005 0.796 NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70255432 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant 0.451952 0.1729 0.07398 0.053691 0.4624003 0.112073 4.774229e-15 FALSE 4.0819e-06 ENSE00002384264_023 ENSE00002384264 023 6 70964987 70965156 - 53 54 63 A T 70965137 1789 20 ATTTTTAAAAGTTGATTAAAAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255433 70255434 70255434 upstr_intron -44 -0.6825397 ATTTTTAAAAGTTGATTAAAAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 116 1800 1 0.9926818 0.9963409 NA NA 0.9515665 0.914462 NA NA 0.04843352 0.0782198 NA 0.9330143 NA 0.06332666 NA FALSE NA 0 0.155 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 2/12 rs376175194 1 T:0.0012 T:0 T:0 NA T:0 T:0 T:0.0061 T:0.0002 T:0.0019 TAT A,T 0.001829 6:70255434 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant -0.016995 0.15962 0.0653 0.053691 0.4139369 0.112073 4.774229e-15 FALSE 0.00167014 ENSE00002384264_024 ENSE00002384264 024 6 70964987 70965156 - 53 54 63 T C 70965138 1790 19 ATTTTTAAAAGTTGATTAGTAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255434 70255435 70255435 upstr_intron -45 -0.6984127 ATTTTTAAAAGTTGATTAGTAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 962 99 0.9998407 1 0.9999203 NA NA 0.9515665 0.914462 NA NA 0.04827419 0.08553795 NA 0.9330143 NA 0.06690607 NA FALSE NA 0 -0.93 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 2/12 1 NA ATT T,C 8.237e-06 6:70255435 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant -0.13488 0.1846 0.04435 0.053691 0.3803943 0.112073 4.774229e-15 FALSE 8.17588e-06 ENSE00002384264_026 ENSE00002384264 026 6 70964987 70965156 - 53 54 63 A C 70965145 1792 12 ATTTTTAAAAGGTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG 70255283 70255453 70255441 70255442 70255442 upstr_intron -52 -0.8095238 ATTTTTAAAAGGTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG ATTTTTAAAAGTTGATTAATAAGTAACTTTTTCTTGTATTAACAAAATTTTATTTTCATACAGGGTGATCAAGGACAGCGAGGACCTCCAGGAGAAGCAGGTCCCAAAGGAGATAGAGTGAGTTTAAATTCAGTCACTCCAAGCCTCCTGCTTTTCAGTGTCATCTGCTG mutant NA NA NA NA NA 102 185 0.9764515 1 0.9882257 NA NA 0.9515665 0.914462 NA NA 0.02488499 0.08553795 NA 0.9330143 NA 0.05521147 NA FALSE NA 0 0.602 NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:70255442 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003517154 intron_variant -0.086766 0.17535 0.06993 0.053691 0.5392741 0.112073 4.774229e-15 FALSE 4.09776e-06 ENSE00002384410_000 ENSE00002384410 000 13 21157037 21157206 + 59 63 48 NA NA NA NA NA TTATTTTTTCCCCCAATTCTTACTCTGTGTTGAATGTTAAATTTGCGTTTTCATTTTAGGAATTGGAGAATGATGCAGCTTTTCAGCAAGCTGTGAGGACTAGTCATGGCAGAAGACCTCCAGTAAGTGAAAAAAATTTTTTTTAAATTGTGGTAAAAAATACATAACAT 20582897 20583067 NA NA NA NA NA NA TTATTTTTTCCCCCAATTCTTACTCTGTGTTGAATGTTAAATTTGCGTTTTCATTTTAGGAATTGGAGAATGATGCAGCTTTTCAGCAAGCTGTGAGGACTAGTCATGGCAGAAGACCTCCAGTAAGTGAAAAAAATTTTTTTTAAATTGTGGTAAAAAATACATAACAT TTATTTTTTCCCCCAATTCTTACTCTGTGTTGAATGTTAAATTTGCGTTTTCATTTTAGGAATTGGAGAATGATGCAGCTTTTCAGCAAGCTGTGAGGACTAGTCATGGCAGAAGACCTCCAGTAAGTGAAAAAAATTTTTTTTAAATTGTGGTAAAAAATACATAACAT natural NA NA NA NA NA 2887 3835 0.9949448 0.9962945 0.9956196 NA NA 0.9949448 0.9962945 NA NA 0 0 NA 0.9956196 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00002726528 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00002385110_000 ENSE00002385110 000 3 59908027 59908196 - 45 69 56 NA NA NA NA NA GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 NA NA NA NA NA NA GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT natural 37 28 0.9910342 0.9983335 0.9946839 4019 5609 0.9522638 0.9957515 0.9740077 0.9910342 0.9983335 0.9522638 0.9957515 0 0 0 0 0.9946839 0.9740077 0 0 0 FALSE FALSE NA NA NA NA NA FHIT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FHIT NA NA NA ENSG00000189283 ENSE00003667944 NA NA NA NA NA NA NA 0.001391839 FALSE NA ENSE00002385110_001 ENSE00002385110 001 3 59908027 59908196 - 45 69 56 A G 59908047 1887 150 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTACTGTTTGATCACGGGGACTGT 59922300 59922470 59922320 59922321 59922321 downstr_intron 25 1.568182 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTACTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 87 94 0.9956634 1 0.9978317 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04339955 0.004248539 0.9946839 0.9740077 NA 0.02382404 NA FALSE NA 0 -0.137 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 8/9 rs199947445 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAT A,G 8.236e-06 3:59922321 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.621583 0.2061 0.1163 0.164513 0.5418496 0.461956 0.001391839 FALSE 1.21945e-05 ENSE00002385110_002 ENSE00002385110 002 3 59908027 59908196 - 45 69 56 A G 59908052 1888 145 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGACCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922325 59922326 59922326 downstr_intron 20 1.454545 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGACCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 3714 951 0.9952969 0.9997595 0.9975282 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04303306 0.004008072 0.9946839 0.9740077 NA 0.02352056 NA FALSE NA 0 0.548 rs183348823 intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 8/9 rs183348823 1 G:0.0006 G:0 G:0.0043 NA G:0 G:0 G:0 G:0.0002 G:0.0013 GAT A,G 0.0006836 3:59922326 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.888998 0.25633 0.08283 0.164513 0.8008829 0.342224 0.001391839 FALSE 0.000784342 ENSE00002385110_005 ENSE00002385110 005 3 59908027 59908196 - 45 69 56 A G 59908059 1891 138 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCCCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922332 59922333 59922333 downstr_intron 13 1.295455 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCCCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 873 525 0.9978869 1 0.9989434 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04562301 0.004248539 0.9946839 0.9740077 NA 0.02493577 NA FALSE NA 0.002 0.555 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 8/9 1 NA GAG A,G 8.236e-06 3:59922333 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.569309 0.21752 0.08385 0.164513 0.7147098 0.274645 0.001391839 FALSE 4.06471e-06 ENSE00002385110_006 ENSE00002385110 006 3 59908027 59908196 - 45 69 56 G A 59908060 1892 137 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTTTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922333 59922334 59922334 downstr_intron 12 1.272727 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTTTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 180 204 1 1 1 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.004248539 0.9946839 0.9740077 NA 0.02599235 NA FALSE NA 0 0.036 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 8/9 1 NA AGA G,A 4.942e-05 3:59922334 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.604481 0.21984 0.04837 0.164513 0.765743 0.274645 0.001391839 FALSE 4.46976e-05 ENSE00002385110_007 ENSE00002385110 007 3 59908027 59908196 - 45 69 56 C G 59908063 1893 134 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTCTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922336 59922337 59922337 downstr_intron 9 1.204545 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTCTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 906 342 0.9974531 1 0.9987265 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04518925 0.004248539 0.9946839 0.9740077 NA 0.0247189 NA FALSE NA 0.129 0.538 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 8/9 1 NA ACA C,G 8.236e-06 3:59922337 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.165759 0.9668 0.41788 0.294411 0.6296977 0.436262 0.001391839 FALSE 1.21896e-05 ENSE00002385110_008 ENSE00002385110 008 3 59908027 59908196 - 45 69 56 G C 59908065 1894 132 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTGTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922338 59922339 59922339 downstr_intron 7 1.159091 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTGTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 1740 93 0.997269 1 0.9986345 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04500511 0.004248539 0.9946839 0.9740077 NA 0.02462682 NA FALSE NA 0.934 0.356 . splice_region_variant&intron_variant LOW FHIT HGNC 3701 ENST00000476844 8/9 1 NA AGA G,C 8.236e-06 3:59922339 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 splice_region_variant 0.681889 0.96148 0.68464 0.294411 0.7235172 0.459248 0.001391839 FALSE 4.06276e-06 ENSE00002385110_009 ENSE00002385110 009 3 59908027 59908196 - 45 69 56 C T 59908067 1895 130 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGATCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922340 59922341 59922341 downstr_intron 5 1.113636 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGATCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 1673 191 0.8157824 0.8577569 0.8367697 0.9910342 0.9983335 0.9522638 0.9957515 NA NA -0.1364815 -0.1379945 0.9946839 0.9740077 NA -0.137238 NA FALSE NA 0.971 5.837 . splice_region_variant&intron_variant LOW FHIT HGNC 3701 ENST00000476844 8/9 rs535084814 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACC C,T 1.647e-05 3:59922341 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 splice_region_variant 2.017147 0.99141 0.99027 0.294411 0.9651542 0.981062 0.001391839 FALSE 1.21872e-05 ENSE00002385110_011 ENSE00002385110 011 3 59908027 59908196 - 45 69 56 C T 59908074 1897 123 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGAAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922347 59922348 59922348 exon -3 0.9710145 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGAAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 123 103 0.9987518 1 0.9993759 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04648795 0.004248539 0.9946839 0.9740077 NA 0.02536824 NA FALSE NA 1 2.498 . missense_variant&splice_region_variant MODERATE FHIT HGNC 3701 ENST00000476844 8/10 rs535578829 1 tolerated(0.33) benign(0.003) NA TCC C,T 1.647e-05 3:59922348 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 2.173859 0.97725 0.91484 0.693126 0.979445 0 0.001391839 FALSE 4.46831e-05 ENSE00002385110_012 ENSE00002385110 012 3 59908027 59908196 - 45 69 56 T A 59908079 1898 118 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTTTGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922352 59922353 59922353 exon -8 0.8985507 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTTTGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 158 112 1 1 1 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.004248539 0.9946839 0.9740077 NA 0.02599235 NA FALSE NA 1 4.364 rs141172262 missense_variant MODERATE FHIT HGNC 3701 ENST00000476844 8/10 rs141172262 1 deleterious(0) possibly_damaging(0.866) NA A:0 A:0.0001 ATA T,A 1.647e-05 3:59922353 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 5.472042 0.98428 0.97414 0.693126 0.9861624 0 0.001391839 FALSE 1.2186e-05 ENSE00002385110_013 ENSE00002385110 013 3 59908027 59908196 - 45 69 56 C T 59908085 1899 112 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAACATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922358 59922359 59922359 exon -14 0.8115942 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAACATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 36 41 0.9209954 0.9981217 0.9595586 0.9910342 0.9983335 0.9522638 0.9957515 NA NA -0.03126843 0.002370231 0.9946839 0.9740077 NA -0.0144491 NA FALSE NA 1 1.326 . missense_variant MODERATE FHIT HGNC 3701 ENST00000476844 8/10 1 tolerated(0.29) benign(0.002) NA GCT C,T 8.236e-06 3:59922359 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 2.678212 0.97743 0.79168 0.693126 0.9837602 0 0.001391839 FALSE 4.06223e-06 ENSE00002385110_014 ENSE00002385110 014 3 59908027 59908196 - 45 69 56 C G 59908114 1900 83 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGCAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922387 59922388 59922388 exon 27 0.3913043 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGCAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 232 71 1 0.9860058 0.9930029 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 -0.009745621 0.9946839 0.9740077 NA 0.01899527 NA FALSE NA 1 1.825 . missense_variant MODERATE FHIT HGNC 3701 ENST00000476844 8/10 1 deleterious(0) probably_damaging(1) NA TCC C,G 4.118e-05 3:59922388 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 5.6352 0.98485 0.97427 0.693126 0.9972966 0 0.001391839 FALSE 2.43795e-05 ENSE00002385110_015 ENSE00002385110 015 3 59908027 59908196 - 45 69 56 G A 59908119 1901 78 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTTCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922392 59922393 59922393 exon 22 0.3188406 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTTCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 679 37 0.999575 1 0.9997875 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04731112 0.004248539 0.9946839 0.9740077 NA 0.02577983 NA FALSE NA 1 7.307 . missense_variant MODERATE FHIT HGNC 3701 ENST00000476844 8/10 rs533270218 1 deleterious(0) probably_damaging(0.999) A:0.0020 A:0 A:0 NA A:0 A:0 A:0.0102 GGA G,A 0.0006507 3:59922393 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 5.848403 0.99347 0.99499 0.693126 0.9990372 0 0.001391839 FALSE 0.000605602 ENSE00002385110_016 ENSE00002385110 016 3 59908027 59908196 - 45 69 56 C T 59908125 1902 72 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATATTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922398 59922399 59922399 exon 16 0.2318841 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATATTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 1441 496 0.9992551 0.9999232 0.9995892 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04699125 0.004171775 0.9946839 0.9740077 NA 0.02558151 NA FALSE NA 0.001 -0.963 . missense_variant MODERATE FHIT HGNC 3701 ENST00000476844 8/10 1 tolerated(0.93) benign(0.005) NA ACA C,T 8.236e-06 3:59922399 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 0.390391 0.89281 0.09814 0.693126 0.4034855 0 0.001391839 FALSE 1.21951e-05 ENSE00002385110_017 ENSE00002385110 017 3 59908027 59908196 - 45 69 56 A G 59908126 1903 71 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCACGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922399 59922400 59922400 exon 15 0.2173913 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCACGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 2978 346 0.9989176 0.9995426 0.9992301 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04665378 0.003791177 0.9946839 0.9740077 NA 0.02522248 NA FALSE NA 0.004 -0.212 rs1385816 synonymous_variant LOW FHIT HGNC 3701 ENST00000476844 8/10 rs1385816&COSM149406 1 G:0.2248 G:0.0719 G:0.3429 NA G:0.3333 G:0.2028 G:0.2587 G:0.0894 G:0.2069 CAT A,G 0.245 3:59922400 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 synonymous_variant -0.436284 0.9687 0.0121 0.693126 0.5894342 0 0.001391839 FALSE 0.255089 ENSE00002385110_018 ENSE00002385110 018 3 59908027 59908196 - 45 69 56 T C 59908127 1904 70 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCGTGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922400 59922401 59922401 exon 14 0.2028986 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCGTGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 134 501 1 1 1 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.004248539 0.9946839 0.9740077 NA 0.02599235 NA FALSE NA 1 5.866 . missense_variant MODERATE FHIT HGNC 3701 ENST00000476844 8/10 1 deleterious(0) probably_damaging(0.984) NA ATG T,C 1.647e-05 3:59922401 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 5.068509 0.99118 0.99285 0.693126 0.9971275 0 0.001391839 FALSE 4.06544e-06 ENSE00002385110_019 ENSE00002385110 019 3 59908027 59908196 - 45 69 56 C A 59908131 1905 66 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACTTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922404 59922405 59922405 exon 10 0.1449275 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACTTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 285 145 1 1 1 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.004248539 0.9946839 0.9740077 NA 0.02599235 NA FALSE NA 0.997 0.677 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:59922405 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 2.69771 0.95345 0.9462 0.693126 0.9900247 0 0.001391839 FALSE 1.22126e-05 ENSE00002385110_020 ENSE00002385110 020 3 59908027 59908196 - 45 69 56 C T 59908131 1906 66 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACATCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922404 59922405 59922405 exon 10 0.1449275 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACATCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 328 481 1 1 1 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.004248539 0.9946839 0.9740077 NA 0.02599235 NA FALSE NA 0.997 0.677 NA NA NA FHIT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FHIT NA NA NA ENSG00000189283 ENSE00003667944 missense_variant 0.433229 0.93648 0.76579 0.693126 0.5534196 0 0.001391839 FALSE 5.29213e-05 ENSE00002385110_022 ENSE00002385110 022 3 59908027 59908196 - 45 69 56 A C 59908135 1908 62 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTGCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922408 59922409 59922409 exon 6 0.08695652 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTGCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 310 225 1 0.9982904 0.9991452 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.002538984 0.9946839 0.9740077 NA 0.02513757 NA FALSE NA 0.895 -0.003 . synonymous_variant LOW FHIT HGNC 3701 ENST00000476844 8/10 1 NA GAA A,C 8.236e-06 3:59922409 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 synonymous_variant -0.356796 0.96839 0.8306 0.693126 0.6825586 0 0.001391839 FALSE 4.07176e-06 ENSE00002385110_023 ENSE00002385110 023 3 59908027 59908196 - 45 69 56 C T 59908137 1909 60 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACATTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922410 59922411 59922411 exon 4 0.05797101 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACATTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 586 145 0.9991542 1 0.9995771 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04689036 0.004248539 0.9946839 0.9740077 NA 0.02556945 NA FALSE NA 0.999 4.254 . missense_variant MODERATE FHIT HGNC 3701 ENST00000476844 8/10 rs202183587&COSM584385&COSM584386 1 tolerated(0.09) benign(0.373) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACG C,T 6.589e-05 3:59922411 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 missense_variant 4.439547 0.98568 0.9698 0.693126 0.9884404 0 0.001391839 FALSE 8.14624e-05 ENSE00002385110_024 ENSE00002385110 024 3 59908027 59908196 - 45 69 56 C T 59908141 1910 56 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAACACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922414 59922415 59922415 upstr_intron -1 0 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAACACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 890 182 0.03468833 0.005583839 0.02013608 0.9910342 0.9983335 0.9522638 0.9957515 NA NA -0.9175755 -0.9901676 0.9946839 0.9740077 NA -0.9538716 NA TRUE NA 1 5.852 . splice_acceptor_variant HIGH FHIT HGNC 3701 ENST00000476844 7/9 1 NA HC GCT C,T 8.236e-06 3:59922415 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 splice_acceptor_variant 5.199177 0.99309 0.99301 0.294411 0.9943758 0.980575 0.001391839 FALSE 4.07874e-06 ENSE00002385110_026 ENSE00002385110 026 3 59908027 59908196 - 45 69 56 T C 59908148 1912 49 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACGTTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922421 59922422 59922422 upstr_intron -8 -0.125 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACGTTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 643 971 0.9896163 0.9978147 0.9937155 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.0373525 0.002063272 0.9946839 0.9740077 NA 0.01970789 NA FALSE NA 0 -0.731 . splice_region_variant&intron_variant LOW FHIT HGNC 3701 ENST00000476844 7/9 1 NA ATG T,C 8.236e-06 3:59922422 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 splice_region_variant 0.569105 0.23518 0.08762 0.061011 0.6078111 0.310378 0.001391839 FALSE 2.04332e-05 ENSE00002385110_027 ENSE00002385110 027 3 59908027 59908196 - 45 69 56 T C 59908150 1913 47 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTGCATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922423 59922424 59922424 upstr_intron -10 -0.1607143 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTGCATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 141 193 1 0.9897991 0.9948995 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 -0.005952363 0.9946839 0.9740077 NA 0.0208919 NA FALSE NA 0 -0.916 rs191547073 intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 rs191547073 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0.0002 C:0.0017 GTA T,C 0.0005271 3:59922424 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.304497 0.18216 0.03771 0.061011 0.6763761 0.313695 0.001391839 FALSE 0.000617769 ENSE00002385110_028 ENSE00002385110 028 3 59908027 59908196 - 45 69 56 A G 59908153 1914 44 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTCGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922426 59922427 59922427 upstr_intron -13 -0.2142857 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTCGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 4802 2783 0.9958685 0.9984396 0.997154 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04360461 0.002688166 0.9946839 0.9740077 NA 0.02314639 NA FALSE NA 0.007 1.361 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 rs555586554 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAA A,G 8.237e-06 3:59922427 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.432062 0.54448 0.57236 0.061011 0.7891106 0.944125 0.001391839 FALSE NA ENSE00002385110_029 ENSE00002385110 029 3 59908027 59908196 - 45 69 56 A C 59908154 1915 43 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCGTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922427 59922428 59922428 upstr_intron -14 -0.2321429 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCGTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 112 100 1 1 1 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.004248539 0.9946839 0.9740077 NA 0.02599235 NA FALSE NA 0.028 1.391 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 rs368593308 1 NA G:0.0002 G:0 AAG A,C 8.236e-06 3:59922428 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.215028 0.36033 0.69226 0.061011 0.7292526 0.741107 0.001391839 FALSE 8.188e-06 ENSE00002385110_030 ENSE00002385110 030 3 59908027 59908196 - 45 69 56 G A 59908155 1916 42 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTTTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922428 59922429 59922429 upstr_intron -15 -0.25 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTTTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 83 358 1 1 1 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.004248539 0.9946839 0.9740077 NA 0.02599235 NA FALSE NA 0.003 1.186 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 rs371475440 1 NA A:0.0005 A:0 AGA G,A 8.237e-06 3:59922429 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.149688 0.25219 0.23851 0.061011 0.6852899 0.290966 0.001391839 FALSE NA ENSE00002385110_031 ENSE00002385110 031 3 59908027 59908196 - 45 69 56 A G 59908160 1917 37 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTCCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922433 59922434 59922434 upstr_intron -20 -0.3392857 GTCTAAAAATACATGGGGAGATAATCACATTTTTTTCCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 795 928 0.9930118 1 0.9965059 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04074795 0.004248539 0.9946839 0.9740077 NA 0.02249824 NA FALSE NA 0.928 0.22 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 1 NA GAA A,G 8.242e-06 3:59922434 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 0.334186 0.33028 0.42668 0.061011 0.7230997 0.0978179 0.001391839 FALSE NA ENSE00002385110_032 ENSE00002385110 032 3 59908027 59908196 - 45 69 56 A G 59908162 1918 35 GTCTAAAAATACATGGGGAGATAATCACATTTTTCTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922435 59922436 59922436 upstr_intron -22 -0.375 GTCTAAAAATACATGGGGAGATAATCACATTTTTCTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 556 921 0.951536 0.9998282 0.9756821 0.9910342 0.9983335 0.9522638 0.9957515 NA NA -0.0007278357 0.004076783 0.9946839 0.9740077 NA 0.001674474 NA FALSE NA 0.834 3.702 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 1 NA AAA A,G 8.236e-06 3:59922436 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 0.781507 0.63424 0.89319 0.061011 0.6844777 0.586623 0.001391839 FALSE 1.23018e-05 ENSE00002385110_033 ENSE00002385110 033 3 59908027 59908196 - 45 69 56 A T 59908167 1919 30 GTCTAAAAATACATGGGGAGATAATCACAATTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922440 59922441 59922441 upstr_intron -27 -0.4642857 GTCTAAAAATACATGGGGAGATAATCACAATTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 645 666 0.9914191 0.9997625 0.9955908 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.03915525 0.004011 0.9946839 0.9740077 NA 0.02158313 NA FALSE NA 0.101 0.763 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 1 NA AAT A,T 2.471e-05 3:59922441 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 0.125159 0.33408 0.29787 0.061011 0.5617462 0.140348 0.001391839 FALSE 1.23192e-05 ENSE00002385110_034 ENSE00002385110 034 3 59908027 59908196 - 45 69 56 G C 59908169 1920 28 GTCTAAAAATACATGGGGAGATAATCAGATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922442 59922443 59922443 upstr_intron -29 -0.5 GTCTAAAAATACATGGGGAGATAATCAGATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 1326 241 0.9929472 0.9991843 0.9960658 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04068332 0.003432881 0.9946839 0.9740077 NA 0.0220581 NA FALSE NA 0.085 0.363 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 1 NA TGT G,C 8.237e-06 3:59922443 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant -0.069324 0.44456 0.17713 0.061011 0.4275028 0.205224 0.001391839 FALSE 4.11445e-06 ENSE00002385110_035 ENSE00002385110 035 3 59908027 59908196 - 45 69 56 G A 59908171 1921 26 GTCTAAAAATACATGGGGAGATAATTACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922444 59922445 59922445 upstr_intron -31 -0.5357143 GTCTAAAAATACATGGGGAGATAATTACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 936 635 0.9993445 1 0.9996722 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04708064 0.004248539 0.9946839 0.9740077 NA 0.02566459 NA FALSE NA 0.257 0.225 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 1 NA TGA G,A 1.647e-05 3:59922445 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 0.976052 0.95016 0.34053 0.061011 0.5930675 0.280069 0.001391839 FALSE 1.64724e-05 ENSE00002385110_036 ENSE00002385110 036 3 59908027 59908196 - 45 69 56 T G 59908174 1922 23 GTCTAAAAATACATGGGGAGATCATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922447 59922448 59922448 upstr_intron -34 -0.5892857 GTCTAAAAATACATGGGGAGATCATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 198 347 0.9964121 0.9972102 0.9968111 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04414829 0.001458694 0.9946839 0.9740077 NA 0.02280349 NA FALSE NA 1 2.708 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 1 NA TTA T,G 8.237e-06 3:59922448 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 1.492081 0.98985 0.97772 0.061011 0.5590337 0.948881 0.001391839 FALSE 4.12534e-06 ENSE00002385110_037 ENSE00002385110 037 3 59908027 59908196 - 45 69 56 A T 59908183 1923 14 GTCTAAAAATACAAGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 59922456 59922457 59922457 upstr_intron -43 -0.75 GTCTAAAAATACAAGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT mutant NA NA NA NA NA 439 886 1 0.9990928 0.9995464 0.9910342 0.9983335 0.9522638 0.9957515 NA NA 0.04773616 0.003341384 0.9946839 0.9740077 NA 0.02553877 NA FALSE NA 0 -0.097 . intron_variant MODIFIER FHIT HGNC 3701 ENST00000476844 7/9 1 NA CAT A,T 8.237e-06 3:59922457 FHIT HGNC Symbol protein_coding 1502149 ENSG00000189283 ENSE00003667944 intron_variant 0.582242 0.18678 0.01812 0.061011 0.5844851 0.0978179 0.001391839 FALSE 4.1731e-06 ENSE00002385110_BRK ENSE00002385110 BRK 3 59908027 59908196 - 45 69 56 A,G; T,T NA NA NA GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCTTCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGCCGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT 59922300 59922470 NA NA NA NA NA NA GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCTTCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGCCGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT GTCTAAAAATACATGGGGAGATAATCACATTTTTTTTCTTTCTTGTACATTTTCAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATGACAGCATCTATGAGGAGGTGGGTCTGTTCTCTCTGATCTTATTGTTTGATCACGGGGACTGT control 112 17 0 0.07866948 0.03933474 941 895 0 0.04661718 0.02330859 0.9910342 0.9983335 0.9522638 0.9957515 -0.9910342 -0.9196641 -0.9522638 -0.9491343 0.9946839 0.9740077 -0.9553491 -0.9506991 0.004650068 TRUE TRUE NA NA NA NA NA FHIT NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FHIT NA NA NA ENSG00000189283 ENSE00003667944 NA NA NA NA NA NA NA 0.001391839 FALSE NA ENSE00002385127_000 ENSE00002385127 000 7 132570384 132570553 - 38 84 48 NA NA NA NA NA TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 NA NA NA NA NA NA TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC natural 136 141 0.9849236 0.988462 0.9866928 7666 6833 0.9667048 0.9107636 0.9387342 0.9849236 0.988462 0.9667048 0.9107636 0 0 0 0 0.9866928 0.9387342 0 0 0 FALSE FALSE NA NA NA NA NA CHCHD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CHCHD3 NA NA NA ENSG00000106554 ENSE00003587797 NA NA NA NA NA NA NA 0.04040163 FALSE NA ENSE00002385127_001 ENSE00002385127 001 7 132570384 132570553 - 38 84 48 T C 132570394 2565 160 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTGTTACCACATC 132885623 132885793 132885633 132885634 132885634 downstr_intron 28 1.756757 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTGTTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 666 1813 1 0.993776 0.996888 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03329523 0.08301237 0.9866928 0.9387342 NA 0.0581538 NA FALSE NA 0.971 0.311 . intron_variant&NMD_transcript_variant MODIFIER CHCHD3 HGNC 21906 ENST00000423635 6/10 rs201352617 1 C:0.0010 C:0 C:0 NA C:0.005 C:0 C:0 ATA T,C 4.943e-05 7:132885634 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 intron_variant -0.51989 0.05907 0.23836 0.162113 0.5933281 0.0770575 0.04040163 FALSE 4.55672e-05 ENSE00002385127_002 ENSE00002385127 002 7 132570384 132570553 - 38 84 48 T C 132570403 2566 151 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCGTTGATTCTATTACCACATC 132885623 132885793 132885642 132885643 132885643 downstr_intron 19 1.513514 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCGTTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 469 496 0.9933993 1 0.9966997 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.02669456 0.08923636 0.9866928 0.9387342 NA 0.05796546 NA FALSE NA 0 -0.605 . intron_variant&NMD_transcript_variant MODIFIER CHCHD3 HGNC 21906 ENST00000423635 6/10 1 NA ATG T,C 8.237e-06 7:132885643 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 intron_variant 0.329309 0.23459 0.09349 0.162113 0.6791546 0.0764565 0.04040163 FALSE NA ENSE00002385127_003 ENSE00002385127 003 7 132570384 132570553 - 38 84 48 A G 132570411 2567 143 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATCTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885650 132885651 132885651 downstr_intron 11 1.297297 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATCTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 715 585 0.9989593 0.9962121 0.9975857 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03225457 0.08544846 0.9866928 0.9387342 NA 0.05885151 NA FALSE NA 0.963 2.876 . intron_variant&NMD_transcript_variant MODIFIER CHCHD3 HGNC 21906 ENST00000423635 6/10 rs377651271 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0007 G:0 AAA A,G 7.414e-05 7:132885651 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 intron_variant -0.477163 0.41408 0.87158 0.162113 0.6097911 0.0765037 0.04040163 FALSE 5.31096e-05 ENSE00002385127_004 ENSE00002385127 004 7 132570384 132570553 - 38 84 48 A T 132570412 2568 142 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTAATTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885651 132885652 132885652 downstr_intron 10 1.27027 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTAATTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 346 1443 0.9941086 0.9449512 0.9695299 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.02740382 0.03418758 0.9866928 0.9387342 NA 0.0307957 NA FALSE NA 0.766 1.906 . intron_variant&NMD_transcript_variant MODIFIER CHCHD3 HGNC 21906 ENST00000423635 6/10 1 NA AAT A,T 8.237e-06 7:132885652 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 intron_variant -0.703599 0.35536 0.89544 0.162113 0.5489453 0.0865446 0.04040163 FALSE 4.42447e-06 ENSE00002385127_005 ENSE00002385127 005 7 132570384 132570553 - 38 84 48 T C 132570413 2569 141 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTGTTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885652 132885653 132885653 downstr_intron 9 1.243243 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTGTTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 534 1339 0.9917944 0.9908785 0.9913364 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.02508961 0.08011486 0.9866928 0.9387342 NA 0.05260224 NA FALSE NA 0 -1.989 . intron_variant&NMD_transcript_variant MODIFIER CHCHD3 HGNC 21906 ENST00000423635 6/10 1 NA ATA T,C 8.237e-06 7:132885653 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 intron_variant -0.566481 0.16841 0.05534 0.162113 0.5346592 0.0865446 0.04040163 FALSE NA ENSE00002385127_006 ENSE00002385127 006 7 132570384 132570553 - 38 84 48 C G 132570427 2570 127 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGCAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885666 132885667 132885667 exon -6 0.9404762 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGCAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 1800 5237 0.99841 0.9995909 0.9990005 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03170523 0.0888273 0.9866928 0.9387342 NA 0.06026626 NA FALSE NA 1 2.024 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 1 deleterious(0.03) probably_damaging(0.925) NA TCC C,G 8.237e-06 7:132885667 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 5.776489 0.9863 0.92552 0.706298 0.9969981 0 0.04040163 FALSE 4.20302e-06 ENSE00002385127_007 ENSE00002385127 007 7 132570384 132570553 - 38 84 48 A C 132570432 2571 122 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACGGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885671 132885672 132885672 exon -11 0.8809524 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACGGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 500 901 0.8991593 0.9999578 0.9495585 0.9849236 0.988462 0.9667048 0.9107636 NA NA -0.06754549 0.08919411 0.9866928 0.9387342 NA 0.01082431 NA FALSE NA 1 7.465 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 1 deleterious(0) probably_damaging(1) NA CAG A,C 8.237e-06 7:132885672 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 6.369292 0.98913 0.98062 0.706298 0.9977815 0 0.04040163 FALSE 8.36106e-06 ENSE00002385127_008 ENSE00002385127 008 7 132570384 132570553 - 38 84 48 C T 132570448 2572 106 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAAAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885687 132885688 132885688 exon -27 0.6904762 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAAAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 453 1137 0.9999091 0.9990865 0.9994978 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03320435 0.08832285 0.9866928 0.9387342 NA 0.0607636 NA FALSE NA 1 4.613 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 1 deleterious(0) probably_damaging(0.956) NA TCT C,T 8.237e-06 7:132885688 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 7.312879 0.99092 0.95718 0.706298 0.9993383 0 0.04040163 FALSE NA ENSE00002385127_009 ENSE00002385127 009 7 132570384 132570553 - 38 84 48 A G 132570457 2573 97 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCACTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885696 132885697 132885697 exon -36 0.5833333 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCACTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 309 605 0.9944992 0.9957373 0.9951182 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.02779439 0.08497365 0.9866928 0.9387342 NA 0.05638402 NA FALSE NA 1 7.465 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 rs376803690 1 tolerated(0.17) benign(0.174) NA G:0 G:0.0001 AAT A,G 8.237e-06 7:132885697 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 3.340142 0.98156 0.97346 0.706298 0.9936918 0 0.04040163 FALSE 4.12252e-06 ENSE00002385127_011 ENSE00002385127 011 7 132570384 132570553 - 38 84 48 A C 132570477 2575 77 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGGGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885716 132885717 132885717 exon 29 0.3452381 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGGGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 706 1400 0.9997829 0.8235398 0.9116613 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03307811 -0.08722384 0.9866928 0.9387342 NA -0.02707287 NA FALSE NA 1 4.195 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 1 tolerated(0.05) benign(0.281) NA CAC A,C 8.237e-06 7:132885717 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 2.348844 0.97716 0.85747 0.706298 0.977051 0 0.04040163 FALSE 4.12926e-06 ENSE00002385127_012 ENSE00002385127 012 7 132570384 132570553 - 38 84 48 C T 132570480 2576 74 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCAAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885719 132885720 132885720 exon 26 0.3095238 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCAAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 10 888 1 0.9307814 0.9653907 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03329523 0.02001778 0.9866928 0.9387342 NA 0.02665651 NA FALSE NA 0.986 3.375 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 rs200873719 1 tolerated(0.18) benign(0.091) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 3.295e-05 7:132885720 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 4.106459 0.98486 0.84646 0.706298 0.9971659 0 0.04040163 FALSE 2.06383e-05 ENSE00002385127_013 ENSE00002385127 013 7 132570384 132570553 - 38 84 48 G C 132570482 2577 72 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGAGCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885721 132885722 132885722 exon 24 0.2857143 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGAGCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 1440 7184 0.998034 0.909171 0.9536025 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03132923 -0.001592652 0.9866928 0.9387342 NA 0.01486829 NA FALSE NA 0.991 0.826 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 1 tolerated(0.78) benign(0.279) NA GGT G,C 1.647e-05 7:132885722 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 0.810732 0.97355 0.83831 0.706298 0.9200792 0 0.04040163 FALSE 8.25266e-06 ENSE00002385127_014 ENSE00002385127 014 7 132570384 132570553 - 38 84 48 T C 132570487 2578 67 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGGAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885726 132885727 132885727 exon 19 0.2261905 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGGAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 1118 1275 0.9981359 1 0.9990679 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03143108 0.08923636 0.9866928 0.9387342 NA 0.06033372 NA FALSE NA 1 6.414 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 1 deleterious(0) probably_damaging(0.911) NA TTC T,C 8.237e-06 7:132885727 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 6.130474 0.98864 0.96582 0.706298 0.9990043 0 0.04040163 FALSE 4.12385e-06 ENSE00002385127_015 ENSE00002385127 015 7 132570384 132570553 - 38 84 48 T C 132570489 2579 65 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGGGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885728 132885729 132885729 exon 17 0.202381 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGGGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 1881 134 0.8681108 1 0.9340554 0.9849236 0.988462 0.9667048 0.9107636 NA NA -0.09859402 0.08923636 0.9866928 0.9387342 NA -0.00467883 NA FALSE NA 1 3.65 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 1 deleterious(0.03) benign(0.059) NA CTC T,C 8.238e-06 7:132885729 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 4.774849 0.98864 0.93619 0.706298 0.9989692 0 0.04040163 FALSE NA ENSE00002385127_016 ENSE00002385127 016 7 132570384 132570553 - 38 84 48 G C 132570499 2580 55 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGGAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885738 132885739 132885739 exon 7 0.08333333 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGGAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 103 463 1 0.9965687 0.9982843 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.03329523 0.08580505 0.9866928 0.9387342 NA 0.05955014 NA FALSE NA 1 6.126 . missense_variant&NMD_transcript_variant MODERATE CHCHD3 HGNC 21906 ENST00000423635 6/11 rs373917058 1 tolerated(0.1) possibly_damaging(0.808) C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 TGC G,C 5.767e-05 7:132885739 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 missense_variant 4.749224 0.98622 0.97072 0.706298 0.9898606 0 0.04040163 FALSE 0.000120881 ENSE00002385127_017 ENSE00002385127 017 7 132570384 132570553 - 38 84 48 A C 132570503 2581 51 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCGAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885742 132885743 132885743 exon 3 0.03571429 TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCGAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 2526 2363 0.9941001 0.8563561 0.9252281 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.02739535 -0.05440753 0.9866928 0.9387342 NA -0.01350609 NA FALSE NA 0.679 -0.057 . splice_region_variant&synonymous_variant&NMD_transcript_variant LOW CHCHD3 HGNC 21906 ENST00000423635 6/11 1 NA TAG A,C 8.238e-06 7:132885743 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 splice_region_variant 0.921845 0.9513 0.62703 0.615465 0.4627965 0 0.04040163 FALSE 8.35708e-06 ENSE00002385127_019 ENSE00002385127 019 7 132570384 132570553 - 38 84 48 A G 132570525 2583 29 TGTTGCTGCTTTTTCTTGATATAGTATACTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885764 132885765 132885765 upstr_intron -20 -0.3958333 TGTTGCTGCTTTTTCTTGATATAGTATACTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 1595 312 0.9800844 0.9900651 0.9850747 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.01337965 0.07930144 0.9866928 0.9387342 NA 0.04634054 NA FALSE NA 0.163 0.342 . intron_variant&NMD_transcript_variant MODIFIER CHCHD3 HGNC 21906 ENST00000423635 5/10 1 NA AAT A,G 3.296e-05 7:132885765 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 intron_variant 2.03887 0.96909 0.16169 0.053691 0.8435369 0.390254 0.04040163 FALSE 1.85586e-05 ENSE00002385127_020 ENSE00002385127 020 7 132570384 132570553 - 38 84 48 T C 132570528 2584 26 TGTTGCTGCTTTTTCTTGATATAGTGTATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC 132885623 132885793 132885767 132885768 132885768 upstr_intron -23 -0.4583333 TGTTGCTGCTTTTTCTTGATATAGTGTATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC TGTTGCTGCTTTTTCTTGATATAGTATATTCCTCATTTCTTTTTTTAGGCTAGGCAGCTGGAAGAGAAAGACCGAGTGCTAAAGAAGCAGGATGCATTCTACAAAGAACAGCTGGCTAGACTGGAGGAGAGGGTATGACTATTTTTTATCATTGATTCTATTACCACATC mutant NA NA NA NA NA 896 417 0.9950018 1 0.9975009 0.9849236 0.988462 0.9667048 0.9107636 NA NA 0.02829708 0.08923636 0.9866928 0.9387342 NA 0.05876672 NA FALSE NA 0.001 -0.148 . intron_variant&NMD_transcript_variant MODIFIER CHCHD3 HGNC 21906 ENST00000423635 5/10 1 NA ATA T,C 8.24e-06 7:132885768 CHCHD3 HGNC Symbol protein_coding 297220 ENSG00000106554 ENSE00003587797 intron_variant 2.282738 0.96334 0.20862 0.053691 0.7354368 0.391595 0.04040163 FALSE 4.73346e-06 ENSE00002385242_000 ENSE00002385242 000 1 204515875 204516044 + 50 81 39 NA NA NA NA NA TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 NA NA NA NA NA NA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA natural NA NA NA NA NA 1207 3785 0.9956774 0.9536364 0.9746569 NA NA 0.9956774 0.9536364 NA NA 0 0 NA 0.9746569 NA 0 NA FALSE NA NA NA NA NA NA MDM4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDM4 NA NA NA ENSG00000198625 ENSE00003662322 NA NA NA NA NA NA NA 0.9985696 TRUE NA ENSE00002385242_002 ENSE00002385242 002 1 204515875 204516044 + 50 81 39 A G 204515898 4801 24 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGCAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546769 204546770 204546770 upstr_intron -27 -0.52 CTCATCTAAAACAAGTAAACATTGCTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 44 1199 0.9513656 0.9873215 0.9693435 NA NA 0.9956774 0.9536364 NA NA -0.04431185 0.03368514 NA 0.9746569 NA -0.005313357 NA FALSE NA 0.722 0.688 . intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 rs371397708 1 NA G:0 G:0.0001 TAC A,G 8.236e-06 1:204546770 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 intron_variant 0.554567 0.21148 0.13495 0.156188 0.7260962 0.0851935 0.9985696 TRUE 1.25442e-05 ENSE00002385242_007 ENSE00002385242 007 1 204515875 204516044 + 50 81 39 A C 204515942 4806 68 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTGTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546813 204546814 204546814 exon 18 0.2222222 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAACAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 292 37 0.9961314 1 0.9980657 NA NA 0.9956774 0.9536364 NA NA 0.0004540206 0.04636361 NA 0.9746569 NA 0.02340882 NA FALSE NA 0 0.316 rs61748997 intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 rs61748997 1 C:0.0038 C:0.0144 C:0 NA C:0 C:0 C:0 C:0.0054 C:0 AAA A,C 0.0007083 1:204546814 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 missense_variant -0.39002 0.24977 0.17744 0.732398 0.5941858 0 0.9985696 TRUE 0.000569963 ENSE00002385242_008 ENSE00002385242 008 1 204515875 204516044 + 50 81 39 A G 204515943 4807 69 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATCTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546814 204546815 204546815 exon 19 0.2345679 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAGATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 194 420 1 1 1 NA NA 0.9956774 0.9536364 NA NA 0.004322578 0.04636361 NA 0.9746569 NA 0.0253431 NA FALSE NA 0.002 0.659 . intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 1 NA AAA A,G 1.647e-05 1:204546815 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 missense_variant 0.101058 0.31494 0.12475 0.732398 0.4860893 0 0.9985696 TRUE 8.14239e-06 ENSE00002385242_009 ENSE00002385242 009 1 204515875 204516044 + 50 81 39 T C 204515945 4808 71 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCGTTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546816 204546817 204546817 exon 21 0.2592593 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAACGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 471 826 0.9958196 0.9988865 0.9973531 NA NA 0.9956774 0.9536364 NA NA 0.0001421818 0.04525012 NA 0.9746569 NA 0.02269615 NA FALSE NA 0.927 1.875 . intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 1 NA ATG T,C 8.236e-06 1:204546817 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 synonymous_variant -0.225495 0.9499 0.9317 0.732398 0.4384543 0 0.9985696 TRUE 4.07103e-06 ENSE00002385242_014 ENSE00002385242 014 1 204515875 204516044 + 50 81 39 C G 204515960 4813 86 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATCGGTATCATCACTTAAGGACTTAGACTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546831 204546832 204546832 exon 36 0.4444444 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGAGTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 20 30 1 0.9987213 0.9993606 NA NA 0.9956774 0.9536364 NA NA 0.004322578 0.04508488 NA 0.9746569 NA 0.02470373 NA FALSE NA 1 1.907 . intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 rs559351941 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 ACT C,G 8.236e-06 1:204546832 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 missense_variant 5.062908 0.97361 0.96004 0.732398 0.9966054 0 0.9985696 TRUE 1.62756e-05 ENSE00002385242_016 ENSE00002385242 016 1 204515875 204516044 + 50 81 39 T C 204515970 4815 96 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATCGGTATCATCACTTAGGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546841 204546842 204546842 exon -36 0.5679012 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCCTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 15 67 1 0.9218654 0.9609327 NA NA 0.9956774 0.9536364 NA NA 0.004322578 -0.031771 NA 0.9746569 NA -0.01372421 NA FALSE NA 0.997 0.368 . intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 1 NA CTT T,C 8.236e-06 1:204546842 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 synonymous_variant 0.29465 0.96358 0.81658 0.732398 0.7486284 0 0.9985696 TRUE 4.06914e-06 ENSE00002385242_019 ENSE00002385242 019 1 204515875 204516044 + 50 81 39 G A 204515985 4818 111 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATTGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546856 204546857 204546857 exon -21 0.7530864 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCAATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 41 121 1 0.9990508 0.9995254 NA NA 0.9956774 0.9536364 NA NA 0.004322578 0.04541444 NA 0.9746569 NA 0.02486851 NA FALSE NA 1 6.777 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:204546857 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 missense_variant 7.151483 0.99238 0.99348 0.732398 0.9991993 0 0.9985696 TRUE 1.22252e-05 ENSE00002385242_020 ENSE00002385242 020 1 204515875 204516044 + 50 81 39 G T 204515985 4819 111 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTCTACATAGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546856 204546857 204546857 exon -21 0.7530864 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCTATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 66 221 1 1 1 NA NA 0.9956774 0.9536364 NA NA 0.004322578 0.04636361 NA 0.9746569 NA 0.0253431 NA FALSE NA 1 6.777 NA NA NA MDM4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDM4 NA NA NA ENSG00000198625 ENSE00003662322 missense_variant 6.961821 0.99273 0.99278 0.732398 0.995086 0 0.9985696 TRUE 8.15016e-06 ENSE00002385242_021 ENSE00002385242 021 1 204515875 204516044 + 50 81 39 G C 204515991 4820 117 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGGTAACCTGTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546862 204546863 204546863 exon -15 0.8271605 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTACAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 61 321 1 1 1 NA NA 0.9956774 0.9536364 NA NA 0.004322578 0.04636361 NA 0.9746569 NA 0.0253431 NA FALSE NA 1 6.79 . intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 1 NA AGA G,C 8.236e-06 1:204546863 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 missense_variant 6.282336 0.99283 0.99487 0.732398 0.9976003 0 0.9985696 TRUE 4.07415e-06 ENSE00002385242_022 ENSE00002385242 022 1 204515875 204516044 + 50 81 39 C T 204515998 4821 124 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATACCTCAGAGATAACCTCTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546869 204546870 204546870 exon -8 0.9135802 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTATCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 35 80 1 0.9995229 0.9997614 NA NA 0.9956774 0.9536364 NA NA 0.004322578 0.04588648 NA 0.9746569 NA 0.02510453 NA FALSE NA 1 3.179 . intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 1 NA ACC C,T 2.471e-05 1:204546870 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 missense_variant 5.610937 0.97761 0.98367 0.732398 0.9966287 0 0.9985696 TRUE 1.63645e-05 ENSE00002385242_024 ENSE00002385242 024 1 204515875 204516044 + 50 81 39 A G 204516008 4823 134 TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCACACCTCAGAGGTAACCTCTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACCTGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 204546879 204546880 204546880 downstr_intron 3 1.078947 CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTGTGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA mutant NA NA NA NA NA 788 374 0.9723572 0.9650013 0.9686792 NA NA 0.9956774 0.9536364 NA NA -0.02332026 0.01136494 NA 0.9746569 NA -0.005977658 NA FALSE NA 0.996 1.651 . intron_variant MODIFIER MDM4 HGNC 6974 ENST00000507825 5/8 1 NA TAT A,G 8.236e-06 1:204546880 MDM4 HGNC Symbol protein_coding 41741 ENSG00000198625 ENSE00003662322 splice_region_variant 2.085021 0.98311 0.92586 0.099367 0.9612245 0.924906 0.9985696 TRUE 4.11689e-06 ENSE00002385242_BRK ENSE00002385242 BRK 1 204515875 204516044 + 50 81 39 A,G; T,T NA NA NA TGGGGCTGGTGCAAAATAGTTCTTGCTAAAGATTCATGGCTCAGAGGTAACCTCTACATCGGTATCATCACTTAAGGACTTAGAGTCCTCCAGGTCATCATTTTTTCCCACTTCAATCACAAGTGAAGGCAAAAACATCTCATTAGTAATGTTTACTTGTTTTAGATGAG 204546746 204546916 NA NA NA NA NA NA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACTTGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGCCATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA CTCATCTAAAACAAGTAAACATTACTAATGAGATGTTTTTGCCTTCACAGGTGATTGAAGTGGGAAAAAATGATGACCTGGAGGACTCTAAGTCCTTAAGTGATGATACCGATGTAGAGGTTACCTCTGAGGTATGAATCTTTAGCAAGAACTATTTTGCACCAGCCCCA control 18 11 0 0 0 402 171 0.00757535 0 0.003787675 NA NA 0.9956774 0.9536364 NA NA -0.9881021 -0.9536364 NA 0.9746569 NA -0.9708692 NA TRUE NA NA NA NA NA NA MDM4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDM4 NA NA NA ENSG00000198625 ENSE00003662322 NA NA NA NA NA NA NA 0.9985696 TRUE NA ENSE00002385320_000 ENSE00002385320 000 2 225684125 225684294 - 38 84 48 NA NA NA NA NA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA 224819407 224819577 NA NA NA NA NA NA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA natural NA NA NA NA NA 857 1644 0.9883772 0.9906225 0.9894999 NA NA 0.9883772 0.9906225 NA NA 0 0 NA 0.9894999 NA 0 NA FALSE NA NA NA NA NA NA DOCK10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK10 NA NA NA ENSG00000135905 ENSE00002452287 NA NA NA NA NA NA NA 0.02919253 FALSE NA ENSE00002385320_004 ENSE00002385320 004 2 225684125 225684294 - 38 84 48 G A 225684154 4886 141 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACTACGTACAGGAGTGATTGTTTTCTAAACTA 224819407 224819577 224819436 224819437 224819437 downstr_intron 9 1.243243 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACTACGTACAGGAGTGATTGTTTTCTAAACTA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA mutant NA NA NA NA NA 30 200 1 1 1 NA NA 0.9883772 0.9906225 NA NA 0.01162276 0.009377481 NA 0.9894999 NA 0.01050012 NA FALSE NA 0.011 2.014 . upstream_gene_variant MODIFIER DOCK10 HGNC 23479 ENST00000422684 1 NA TGG G,A 8.276e-06 2:224819437 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00002452287 intron_variant 0.468774 0.30798 0.07892 0.156188 0.6770532 0.0837695 0.02919253 FALSE 4.24085e-06 ENSE00002385320_006 ENSE00002385320 006 2 225684125 225684294 - 38 84 48 A C 225684166 4888 129 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTGAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA 224819407 224819577 224819448 224819449 224819449 exon -4 0.9642857 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTGAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA mutant NA NA NA NA NA 86 45 1 0.9778438 0.9889219 NA NA 0.9883772 0.9906225 NA NA 0.01162276 -0.01277869 NA 0.9894999 NA -0.0005779651 NA FALSE NA 0.994 1.572 NA NA NA DOCK10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:224819449 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00002452287 synonymous_variant -0.624137 0.8782 0.68084 0.730579 0.6856557 0 0.02919253 FALSE 4.17052e-06 ENSE00002385320_008 ENSE00002385320 008 2 225684125 225684294 - 38 84 48 G C 225684169 4890 126 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGAGCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA 224819407 224819577 224819451 224819452 224819452 exon -7 0.9285714 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGAGCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA mutant NA NA NA NA NA 387 83 1 1 1 NA NA 0.9883772 0.9906225 NA NA 0.01162276 0.009377481 NA 0.9894999 NA 0.01050012 NA FALSE NA 0.214 -0.388 . upstream_gene_variant MODIFIER DOCK10 HGNC 23479 ENST00000422684 1 NA GGT G,C 8.276e-06 2:224819452 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00002452287 missense_variant 1.337671 0.75605 0.11919 0.730579 0.9613194 0 0.02919253 FALSE 4.15079e-06 ENSE00002385320_009 ENSE00002385320 009 2 225684125 225684294 - 38 84 48 C T 225684174 4891 121 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCAGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA 224819407 224819577 224819456 224819457 224819457 exon -12 0.8690476 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCAGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA mutant NA NA NA NA NA 169 166 0.9960375 0.8808079 0.9384227 NA NA 0.9883772 0.9906225 NA NA 0.007660215 -0.1098146 NA 0.9894999 NA -0.05107721 NA FALSE NA 0.956 2.971 . upstream_gene_variant MODIFIER DOCK10 HGNC 23479 ENST00000422684 rs367986744 1 NA T:0 T:0.0001 CCG C,T 2.483e-05 2:224819457 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00002452287 missense_variant 3.712638 0.9762 0.85749 0.730579 0.9948429 0 0.02919253 FALSE 3.31252e-05 ENSE00002385320_017 ENSE00002385320 017 2 225684125 225684294 - 38 84 48 T C 225684218 4899 77 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTGTGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA 224819407 224819577 224819500 224819501 224819501 exon 29 0.3452381 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTGTGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA mutant NA NA NA NA NA 31 209 1 1 1 NA NA 0.9883772 0.9906225 NA NA 0.01162276 0.009377481 NA 0.9894999 NA 0.01050012 NA FALSE NA 1 4.865 . upstream_gene_variant MODIFIER DOCK10 HGNC 23479 ENST00000422684 rs552775428 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATA T,C 2.484e-05 2:224819501 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00002452287 missense_variant 3.354568 0.98307 0.8716 0.75658 0.9846474 0 0.02919253 FALSE 3.70127e-05 ENSE00002385320_018 ENSE00002385320 018 2 225684125 225684294 - 38 84 48 T C 225684235 4900 60 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACGTTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA 224819407 224819577 224819517 224819518 224819518 exon 12 0.1428571 TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACGTTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA TGATTCTTCAAGTAAAAGTGTTTAAATTTAGAATTTTATCTATTTTAGCGCTGCTTTACATTTATGGACCGAGGGTATGTGTTTAAGATGGTCAACAATTACATCAGCATGTTCTCCTCCGGTGACCTTAAGGTAAGAACCACGTACAGGAGTGATTGTTTTCTAAACTA mutant NA NA NA NA NA 68 180 1 0.9991204 0.9995602 NA NA 0.9883772 0.9906225 NA NA 0.01162276 0.008497839 NA 0.9894999 NA 0.0100603 NA FALSE NA 0 -4.721 . upstream_gene_variant MODIFIER DOCK10 HGNC 23479 ENST00000422684 1 NA ATG T,C 8.28e-06 2:224819518 DOCK10 HGNC Symbol protein_coding 277355 ENSG00000135905 ENSE00002452287 synonymous_variant -0.429124 0.09323 0.01562 0.732398 0.4065891 0 0.02919253 FALSE 4.25608e-06 ENSE00002385748_000 ENSE00002385748 000 17 10397639 10397808 - 32 96 42 NA NA NA NA NA AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 NA NA NA NA NA NA TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT natural 69 86 0.9655248 0.9638156 0.9646702 4378 5214 0.9736833 0.8637793 0.9187313 0.9655248 0.9638156 0.9736833 0.8637793 0 0 0 0 0.9646702 0.9187313 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00002385748 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002385748_009 ENSE00002385748 009 17 10397639 10397808 - 32 96 42 A C 10397669 713 140 AGAAAAATCACCCCAAGGGGTTGTGAACTCCCCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494351 10494352 10494352 downstr_intron 2 1.064516 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGGGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 521 97 0.9519373 1 0.9759686 0.9655248 0.9638156 0.9736833 0.8637793 NA NA -0.02174605 0.1362207 0.9646702 0.9187313 NA 0.05723733 NA FALSE NA 1 9.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00002385748 splice_donor_variant 4.958182 0.99381 0.99402 0.080754 0.9945589 0.966628 0.454891 FALSE 2.84463e-05 ENSE00002385748_011 ENSE00002385748 011 17 10397639 10397808 - 32 96 42 C A 10397671 715 138 AGAAAAATCACCCCAAGGGGTTGTGAACTCACAGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494353 10494354 10494354 exon -1 1 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCTGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 27 365 1 1 1 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.1362207 0.9646702 0.9187313 NA 0.08126869 NA FALSE NA 1 0.644 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00002385748 splice_region_variant 2.261682 0.97873 0.67566 0.500041 0.8631235 0 0.0002572748 FALSE 8.12863e-06 ENSE00002385748_013 ENSE00002385748 013 17 10397639 10397808 - 32 96 42 G T 10397672 717 137 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCTCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494354 10494355 10494355 exon -2 0.9895833 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGAGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 296 107 0.9980371 1 0.9990186 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02435379 0.1362207 0.9646702 0.9187313 NA 0.08028726 NA FALSE NA 1 8.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00002385748 missense_variant 6.984578 0.99199 0.99002 0.500041 0.9926669 0 9.990095e-18 FALSE 8.12717e-06 ENSE00002385748_025 ENSE00002385748 025 17 10397639 10397808 - 32 96 42 C A 10397753 729 56 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGAGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494435 10494436 10494436 exon 14 0.1458333 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCTCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 741 620 0.8663199 0.9994895 0.9329047 0.9655248 0.9638156 0.9736833 0.8637793 NA NA -0.1073634 0.1357102 0.9646702 0.9187313 NA 0.01417339 NA FALSE NA 0.449 1.085 NA NA NA CTC-297N7.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYHAS NA NA NA ENSG00000272975 ENSE00002385748 missense_variant 5.759902 0.98229 0.8137 0.487112 0.9946841 0 NA NA 2.84585e-05 ENSE00002385748_BRK ENSE00002385748 BRK 17 10397639 10397808 - 32 96 42 A,G; T,T NA NA NA AGAAAAATCACCCCAAGGGGTTGTGAACTCGGCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTAAGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 NA NA NA NA NA NA TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCTTACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGCCGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT control NA NA NA NA NA 218 457 0.109871 0.006882364 0.05837667 0.9655248 0.9638156 0.9736833 0.8637793 NA NA -0.8638124 -0.8568969 0.9646702 0.9187313 NA -0.8603546 NA TRUE NA NA NA NA NA NA CTC-297N7.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYHAS NA NA NA ENSG00000272975 ENSE00002385748 NA NA NA NA NA NA NA NA NA NA ENSE00002386005_000 ENSE00002386005 000 5 169496093 169496262 + 48 84 38 NA NA NA NA NA AGGAGAGCAGCATGCTCCCCTGGCCAGCGCTGCCTCACCTGCCATGCAATCAGGTCCTTGAGGTGGGTCAGCTTGTCCTGGTCCTCAGGGTGGTCCCTGACATACTCTTCAGTGAAGAAGGCCTGGGGAGGACAGATAGGAGGTCAGGGTTTCCTGTTCATGTGGCATTT 170069088 170069258 NA NA NA NA NA NA AAATGCCACATGAACAGGAAACCCTGACCTCCTATCTGTCCTCCCCAGGCCTTCTTCACTGAAGAGTATGTCAGGGACCACCCTGAGGACCAGGACAAGCTGACCCACCTCAAGGACCTGATTGCATGGCAGGTGAGGCAGCGCTGGCCAGGGGAGCATGCTGCTCTCCT AAATGCCACATGAACAGGAAACCCTGACCTCCTATCTGTCCTCCCCAGGCCTTCTTCACTGAAGAGTATGTCAGGGACCACCCTGAGGACCAGGACAAGCTGACCCACCTCAAGGACCTGATTGCATGGCAGGTGAGGCAGCGCTGGCCAGGGGAGCATGCTGCTCTCCT natural 83 23 0.9658742 1 0.9829371 638 592 0.9957858 0.9911885 0.9934871 0.9658742 1 0.9957858 0.9911885 0 0 0 0 0.9829371 0.9934871 0 0 0 FALSE FALSE NA NA NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003553188 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002386005_010 ENSE00002386005 010 5 169496093 169496262 + 48 84 38 G A 169496186 2231 94 AGGAGAGCAGCATGCTCCCCTGGCCAGCGCTGCCTCACCTGCCATGCAATCAGGTCCTTGAGGTGGGTCAGCTTGTTCTGGTCCTCAGGGTGGTCCCTGACATACTCTTCAGTGAAGAAGGCCTGGGGAGGACAGATAGGAGGTCAGGGTTTCCTGTTCATGTGGCATTT 170069088 170069258 170069181 170069182 170069182 exon -39 0.547619 AAATGCCACATGAACAGGAAACCCTGACCTCCTATCTGTCCTCCCCAGGCCTTCTTCACTGAAGAGTATGTCAGGGACCACCCTGAGGACCAGAACAAGCTGACCCACCTCAAGGACCTGATTGCATGGCAGGTGAGGCAGCGCTGGCCAGGGGAGCATGCTGCTCTCCT AAATGCCACATGAACAGGAAACCCTGACCTCCTATCTGTCCTCCCCAGGCCTTCTTCACTGAAGAGTATGTCAGGGACCACCCTGAGGACCAGGACAAGCTGACCCACCTCAAGGACCTGATTGCATGGCAGGTGAGGCAGCGCTGGCCAGGGGAGCATGCTGCTCTCCT mutant NA NA NA NA NA 35 1920 1 0.9988251 0.9994125 0.9658742 1 0.9957858 0.9911885 NA NA 0.004214188 0.007636595 0.9829371 0.9934871 NA 0.005925391 NA FALSE NA 1 9.802 . missense_variant MODERATE DOCK2 HGNC 2988 ENST00000540750 32/38 rs199902117 1 benign(0.073) A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGA G,A 2.471e-05 5:170069182 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003553188 missense_variant 4.146497 0.99423 0.9929 0.67177 0.9986851 0 0.9999999 TRUE 6.10113e-05 ENSE00002386005_017 ENSE00002386005 017 5 169496093 169496262 + 48 84 38 G A 169496235 2238 143 AGGAGAGCAGCATGCTCCCCTGGCCAGTGCTGCCTCACCTGCCATGCAATCAGGTCCTTGAGGTGGGTCAGCTTGTCCTGGTCCTCAGGGTGGTCCCTGACATACTCTTCAGTGAAGAAGGCCTGGGGAGGACAGATAGGAGGTCAGGGTTTCCTGTTCATGTGGCATTT 170069088 170069258 170069230 170069231 170069231 downstr_intron 11 1.297297 AAATGCCACATGAACAGGAAACCCTGACCTCCTATCTGTCCTCCCCAGGCCTTCTTCACTGAAGAGTATGTCAGGGACCACCCTGAGGACCAGGACAAGCTGACCCACCTCAAGGACCTGATTGCATGGCAGGTGAGGCAGCACTGGCCAGGGGAGCATGCTGCTCTCCT AAATGCCACATGAACAGGAAACCCTGACCTCCTATCTGTCCTCCCCAGGCCTTCTTCACTGAAGAGTATGTCAGGGACCACCCTGAGGACCAGGACAAGCTGACCCACCTCAAGGACCTGATTGCATGGCAGGTGAGGCAGCGCTGGCCAGGGGAGCATGCTGCTCTCCT mutant NA NA NA NA NA 48 387 1 0.9999016 0.9999508 0.9658742 1 0.9957858 0.9911885 NA NA 0.004214188 0.008713145 0.9829371 0.9934871 NA 0.006463666 NA FALSE NA 0 -0.042 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 32/37 rs376343917 1 NA A:0 A:0.0001 CGC G,A 0.0001977 5:170069231 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003553188 intron_variant 0.503621 0.20996 0.02951 0.084033 0.7424736 0.0725607 0.9999999 TRUE 0.000214036 ENSE00002386005_BRK ENSE00002386005 BRK 5 169496093 169496262 + 48 84 38 A,G; T,T NA NA NA AGGAGAGCAGCATGCTCCCCTGGCCAGCGCTGCCTCGGCTGCCATGCAATCAGGTCCTTGAGGTGGGTCAGCTTGTCCTGGTCCTCAGGGTGGTCCCTGACATACTCTTCAGTGAAGAAGGCAAGGGGAGGACAGATAGGAGGTCAGGGTTTCCTGTTCATGTGGCATTT 170069088 170069258 NA NA NA NA NA NA AAATGCCACATGAACAGGAAACCCTGACCTCCTATCTGTCCTCCCCTTGCCTTCTTCACTGAAGAGTATGTCAGGGACCACCCTGAGGACCAGGACAAGCTGACCCACCTCAAGGACCTGATTGCATGGCAGCCGAGGCAGCGCTGGCCAGGGGAGCATGCTGCTCTCCT AAATGCCACATGAACAGGAAACCCTGACCTCCTATCTGTCCTCCCCAGGCCTTCTTCACTGAAGAGTATGTCAGGGACCACCCTGAGGACCAGGACAAGCTGACCCACCTCAAGGACCTGATTGCATGGCAGGTGAGGCAGCGCTGGCCAGGGGAGCATGCTGCTCTCCT control 177 168 0 0 0 NA NA NA NA NA 0.9658742 1 0.9957858 0.9911885 -0.9658742 -1 NA NA 0.9829371 0.9934871 -0.9829371 NA NA NA TRUE NA NA NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003553188 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002386080_000 ENSE00002386080 000 3 120394595 120394764 - 44 72 54 NA NA NA NA NA GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 NA NA NA NA NA NA GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC natural 139 162 0.9990977 0.997275 0.9981863 7372 5686 0.9738456 0.7961547 0.8850002 0.9990977 0.997275 0.9738456 0.7961547 0 0 0 0 0.9981863 0.8850002 0 0 0 FALSE FALSE NA NA NA NA NA HGD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HGD NA NA NA ENSG00000113924 ENSE00003578622 NA NA NA NA NA NA NA 6.424523e-05 FALSE NA ENSE00002386080_001 ENSE00002386080 001 3 120394595 120394764 - 44 72 54 C T 120394606 2425 159 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTAAATCCTATTCC 120675747 120675917 120675758 120675759 120675759 downstr_intron 33 1.767442 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTAAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 1412 4143 0.8094271 0.9975669 0.903497 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.1644185 0.2014122 0.9981863 0.8850002 NA 0.01849681 NA FALSE NA 0 -0.398 . intron_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/2 1 NA TCA C,T 8.237e-06 3:120675759 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 intron_variant 1.97932 0.16026 0.01816 0.074636 0.8414961 0.0740681 6.424523e-05 FALSE 4.07465e-06 ENSE00002386080_002 ENSE00002386080 002 3 120394595 120394764 - 44 72 54 G A 120394608 2426 157 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTTTGAATCCTATTCC 120675747 120675917 120675760 120675761 120675761 downstr_intron 31 1.72093 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTTTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 1581 481 1 1 1 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.02615439 0.2038453 0.9981863 0.8850002 NA 0.1149998 NA FALSE NA 0.002 0.269 . intron_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/2 1 NA AGA G,A 1.647e-05 3:120675761 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 intron_variant 1.975067 0.17904 0.06809 0.061011 0.8477952 0.0740681 6.424523e-05 FALSE 1.22228e-05 ENSE00002386080_004 ENSE00002386080 004 3 120394595 120394764 - 44 72 54 C G 120394634 2428 131 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATCAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675786 120675787 120675787 downstr_intron 5 1.116279 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATCAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 743 311 0.8373047 0.9399069 0.8886058 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.1365409 0.1437522 0.9981863 0.8850002 NA 0.003605666 NA FALSE NA 0.101 1.057 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW HGD HGNC 4892 ENST00000480862 2/2 1 NA TCA C,G 8.237e-06 3:120675787 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 splice_region_variant -0.110185 0.28628 0.16079 0.061011 0.3963148 0.375989 6.424523e-05 FALSE 4.06964e-06 ENSE00002386080_005 ENSE00002386080 005 3 120394595 120394764 - 44 72 54 C G 120394639 2429 126 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACACGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675791 120675792 120675792 exon -1 1 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACACGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 130 188 0.2378788 0.2972232 0.267551 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.7359668 -0.4989316 0.9981863 0.8850002 NA -0.6174492 NA TRUE NA 1 6.493 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW HGD HGNC 4892 ENST00000480862 2/3 1 NA CCT C,G 1.647e-05 3:120675792 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 6.246111 0.9669 0.93523 0.487112 0.9197886 0 6.424523e-05 FALSE 8.13842e-06 ENSE00002386080_006 ENSE00002386080 006 3 120394595 120394764 - 44 72 54 G C 120394641 2430 124 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGAGAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675793 120675794 120675794 exon -3 0.9722222 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGAGAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 580 366 0.9814605 0.9877373 0.9845989 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.007614884 0.1915826 0.9981863 0.8850002 NA 0.09959874 NA FALSE NA 1 8.185 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW HGD HGNC 4892 ENST00000480862 2/3 1 NA TGT G,C 8.237e-06 3:120675794 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 5.476483 0.96727 0.95167 0.487112 0.9937962 0 6.424523e-05 FALSE NA ENSE00002386080_007 ENSE00002386080 007 3 120394595 120394764 - 44 72 54 T G 120394646 2431 119 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGCAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675798 120675799 120675799 exon -8 0.9027778 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGCAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 381 1850 0.9371963 0.9007042 0.9189503 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.03664931 0.1045495 0.9981863 0.8850002 NA 0.03395008 NA FALSE NA 1 6.675 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA TTC T,G 8.237e-06 3:120675799 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 1.83142 0.94344 0.91583 0.487112 0.9578445 0 6.424523e-05 FALSE 4.06851e-06 ENSE00002386080_008 ENSE00002386080 008 3 120394595 120394764 - 44 72 54 A G 120394656 2432 109 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTCCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675808 120675809 120675809 exon -18 0.7638889 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTCCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 485 521 1 0.9972507 0.9986253 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.02615439 0.2010959 0.9981863 0.8850002 NA 0.1136252 NA FALSE NA 1 1.729 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA GAA A,G 8.237e-06 3:120675809 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 4.329387 0.91251 0.70168 0.487112 0.99577 0 6.424523e-05 FALSE 4.06812e-06 ENSE00002386080_010 ENSE00002386080 010 3 120394595 120394764 - 44 72 54 G A 120394668 2434 97 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTTGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675820 120675821 120675821 exon -30 0.5972222 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTTGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 614 520 0.9842046 0.9975397 0.9908721 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.01035897 0.201385 0.9981863 0.8850002 NA 0.105872 NA FALSE NA 1 6.418 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA CGA G,A 8.237e-06 3:120675821 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 5.813169 0.96624 0.92398 0.487112 0.9991258 0 6.424523e-05 FALSE 1.22043e-05 ENSE00002386080_011 ENSE00002386080 011 3 120394595 120394764 - 44 72 54 A T 120394672 2435 93 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGAACCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675824 120675825 120675825 exon -34 0.5416667 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGAACCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 366 437 0.02891047 0.009665485 0.01928798 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.9449351 -0.7864892 0.9981863 0.8850002 NA -0.8657122 NA TRUE NA 0.997 0.324 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA GAT A,T 8.237e-06 3:120675825 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 3.838458 0.9045 0.63846 0.487112 0.9776076 0 6.424523e-05 FALSE 4.06772e-06 ENSE00002386080_012 ENSE00002386080 012 3 120394595 120394764 - 44 72 54 T C 120394673 2436 92 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGGTCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675825 120675826 120675826 exon -35 0.5277778 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGGTCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 133 1091 0.8039074 0.837774 0.8208407 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.1699382 0.04161931 0.9981863 0.8850002 NA -0.06415946 NA FALSE NA 1 6.675 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA ATC T,C 8.237e-06 3:120675826 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 5.143105 0.95844 0.91655 0.487112 0.996968 0 6.424523e-05 FALSE 8.13511e-06 ENSE00002386080_013 ENSE00002386080 013 3 120394595 120394764 - 44 72 54 C T 120394677 2437 88 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAAAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675829 120675830 120675830 exon 34 0.4722222 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAAAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 588 908 0.9943824 0.9936121 0.9939973 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.02053683 0.1974574 0.9981863 0.8850002 NA 0.1089971 NA FALSE NA 1 6.493 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA TCT C,T 2.471e-05 3:120675830 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 7.367436 0.96558 0.92148 0.487112 0.9992985 0 6.424523e-05 FALSE 2.44065e-05 ENSE00002386080_014 ENSE00002386080 014 3 120394595 120394764 - 44 72 54 A G 120394686 2438 79 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGCGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675838 120675839 120675839 exon 25 0.3472222 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGCGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 1036 526 0.8555935 0.9996992 0.9276463 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.1182522 0.2035445 0.9981863 0.8850002 NA 0.04264616 NA FALSE NA 1 4.853 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA CAC A,G 8.236e-06 3:120675839 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 3.951774 0.9594 0.88668 0.487112 0.991775 0 6.424523e-05 FALSE 4.06752e-06 ENSE00002386080_015 ENSE00002386080 015 3 120394595 120394764 - 44 72 54 C T 120394687 2439 78 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAATGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675839 120675840 120675840 exon 24 0.3333333 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAATGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 660 325 0.9224796 0.9998828 0.9611812 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.05136599 0.2037281 0.9981863 0.8850002 NA 0.07618104 NA FALSE NA 0.558 -0.228 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA ACT C,T 8.236e-06 3:120675840 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 1.555815 0.89293 0.36868 0.553676 0.9597208 0 6.424523e-05 FALSE 4.06745e-06 ENSE00002386080_016 ENSE00002386080 016 3 120394595 120394764 - 44 72 54 C T 120394694 2440 71 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGAGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675846 120675847 120675847 exon 17 0.2361111 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGAGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 401 884 0.9992794 0.9998211 0.9995502 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.02543378 0.2036663 0.9981863 0.8850002 NA 0.1145501 NA FALSE NA 1 6.493 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 rs370453859&CX983274 1 NA T:0 T:0.0001 CCC C,T 8.236e-06 3:120675847 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 missense_variant 7.056277 0.96558 0.92148 0.553676 0.9976332 0 6.424523e-05 FALSE 4.06769e-06 ENSE00002386080_018 ENSE00002386080 018 3 120394595 120394764 - 44 72 54 A G 120394702 2442 63 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCCGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675854 120675855 120675855 exon 9 0.125 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCCGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 2028 400 0.9962681 0.9975439 0.996906 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.02242251 0.2013891 0.9981863 0.8850002 NA 0.1119058 NA FALSE NA 0.774 0.395 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 2/3 1 NA CAG A,G 8.236e-06 3:120675855 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 synonymous_variant 0.684009 0.87472 0.53546 0.553676 0.7657136 0 6.424523e-05 FALSE 1.22036e-05 ENSE00002386080_019 ENSE00002386080 019 3 120394595 120394764 - 44 72 54 G A 120394708 2443 57 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTATATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675860 120675861 120675861 exon 3 0.04166667 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTATATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 1393 734 0.9085602 0.9947918 0.951676 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.06528536 0.198637 0.9981863 0.8850002 NA 0.06667584 NA FALSE NA 1 1.459 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW HGD HGNC 4892 ENST00000480862 2/3 1 NA TGT G,A 8.236e-06 3:120675861 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 splice_region_variant 1.153199 0.91335 0.76955 0.553676 0.7201433 0 6.424523e-05 FALSE 4.06845e-06 ENSE00002386080_020 ENSE00002386080 020 3 120394595 120394764 - 44 72 54 C T 120394711 2444 54 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAATACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675863 120675864 120675864 upstr_intron -1 0 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAATACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 1145 1394 0.1428521 0.07939685 0.1111245 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.8309935 -0.7167579 0.9981863 0.8850002 NA -0.7738757 NA TRUE NA 1 6.46 . splice_acceptor_variant&non_coding_transcript_variant HIGH HGD HGNC 4892 ENST00000480862 1/2 rs397515347&CS991416 1 NA ACT C,T 2.471e-05 3:120675864 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 splice_acceptor_variant 5.689302 0.96558 0.96194 0.074636 0.9952753 0.987929 6.424523e-05 FALSE 2.84812e-05 ENSE00002386080_021 ENSE00002386080 021 3 120394595 120394764 - 44 72 54 A C 120394726 2445 39 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGGCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675878 120675879 120675879 upstr_intron -16 -0.2777778 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGGCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 712 652 0.7663622 0.6518787 0.7091204 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.2074834 -0.1442761 0.9981863 0.8850002 NA -0.1758797 NA FALSE NA 0.987 2.577 . intron_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 1/2 1 NA GAC A,C 4.118e-05 3:120675879 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 intron_variant 1.842935 0.95973 0.894 0.061011 0.8941419 0.978915 6.424523e-05 FALSE 2.84893e-05 ENSE00002386080_022 ENSE00002386080 022 3 120394595 120394764 - 44 72 54 C G 120394729 2446 36 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTCTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675881 120675882 120675882 upstr_intron -19 -0.3333333 GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTCTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 481 595 1 0.9809244 0.9904622 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.02615439 0.1847696 0.9981863 0.8850002 NA 0.105462 NA FALSE NA 0.832 0.494 . intron_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 1/2 1 NA ACA C,G 8.237e-06 3:120675882 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 intron_variant 1.142827 0.83521 0.62601 0.061011 0.7310807 0.534245 6.424523e-05 FALSE 4.0707e-06 ENSE00002386080_023 ENSE00002386080 023 3 120394595 120394764 - 44 72 54 C T 120394735 2447 30 GAAATGCTCTTTAAATCCTGCTAATGGTGACATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675887 120675888 120675888 upstr_intron -25 -0.4444444 GAAATGCTCTTTAAATCCTGCTAATGGTGACATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 280 201 0.9719111 0.9998104 0.9858608 0.9990977 0.997275 0.9738456 0.7961547 NA NA -0.0019345 0.2036557 0.9981863 0.8850002 NA 0.1008606 NA FALSE NA 0 -0.934 . intron_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 1/2 rs374802195 1 NA T:0 T:0.0006 GCC C,T 0.0001318 3:120675888 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 intron_variant 1.098137 0.19119 0.02432 0.061011 0.6947152 0.384989 6.424523e-05 FALSE 0.000162864 ENSE00002386080_024 ENSE00002386080 024 3 120394595 120394764 - 44 72 54 T C 120394750 2448 15 GAAATGCTCTTTAAGTCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 120675902 120675903 120675903 upstr_intron -40 -0.7222222 GAAATGCTCTTTAAGTCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC mutant NA NA NA NA NA 1374 1546 0.9991883 0.9615817 0.980385 0.9990977 0.997275 0.9738456 0.7961547 NA NA 0.02534269 0.165427 0.9981863 0.8850002 NA 0.09538483 NA FALSE NA 0.001 0.027 . intron_variant&non_coding_transcript_variant MODIFIER HGD HGNC 4892 ENST00000480862 1/2 1 NA ATT T,C 8.237e-06 3:120675903 HGD HGNC Symbol protein_coding 54398 ENSG00000113924 ENSE00003578622 intron_variant 2.078253 0.46457 0.17202 0.061011 0.9205861 0.373409 6.424523e-05 FALSE 4.07438e-06 ENSE00002386080_BRK ENSE00002386080 BRK 3 120394595 120394764 - 44 72 54 A,G; T,T NA NA NA GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACTTTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGCCATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC 120675747 120675917 NA NA NA NA NA NA GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACTTTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGCCATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC GAAATGCTCTTTAAATCCTGCTAATGGTGGCATTTGTGTCTTTGTCACCTACAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGCTGCCCAGGTTCCCTGCCAGAAGGACAGGTATGAGCAAATAAAGTGCTTAGAAGAGCTCTGAATCCTATTCC control 122 102 0 0 0 976 1008 0 0.0003627405 0.0001813702 0.9990977 0.997275 0.9738456 0.7961547 -0.9990977 -0.997275 -0.9738456 -0.795792 0.9981863 0.8850002 -0.9981863 -0.8848188 0.1133675 TRUE TRUE NA NA NA NA NA HGD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HGD NA NA NA ENSG00000113924 ENSE00003578622 NA NA NA NA NA NA NA 6.424523e-05 FALSE NA ENSE00002386150_000 ENSE00002386150 000 17 48274318 48274487 - 53 54 63 NA NA NA NA NA AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 NA NA NA NA NA NA AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC natural 49 76 0.9980986 0.9771462 0.9876224 3197 2219 0.9546741 0.9727801 0.9637271 0.9980986 0.9771462 0.9546741 0.9727801 0 0 0 0 0.9876224 0.9637271 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00003541153 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002386150_002 ENSE00002386150 002 17 48274318 48274487 - 53 54 63 G A 48274340 2524 148 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCTAAGTCCCTAGCATACCCCCATC 50196956 50197126 50196978 50196979 50196979 downstr_intron 31 1.596154 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCTAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 87 15 1 1 1 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.0453259 0.02721988 0.9876224 0.9637271 NA 0.03627289 NA FALSE NA 0.037 -0.193 NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:50196979 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant 0.040038 0.13088 0.0301 0.095506 0.316052 0.110805 1 TRUE 4.06299e-06 ENSE00002386150_003 ENSE00002386150 003 17 48274318 48274487 - 53 54 63 G C 48274341 2525 147 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCGCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50196979 50196980 50196980 downstr_intron 30 1.576923 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCGCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 129 44 0.9675875 1 0.9837937 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.01291339 0.02721988 0.9876224 0.9637271 NA 0.02006663 NA FALSE NA 0.021 1.365 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs369249923 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0025 C:0 GGG G,C 0.0002306 17:50196980 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant 0.068099 0.22343 0.15072 0.095506 0.4330029 0.110805 1 TRUE 0.000174687 ENSE00002386150_004 ENSE00002386150 004 17 48274318 48274487 - 53 54 63 A G 48274351 2526 137 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCACTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50196989 50196990 50196990 downstr_intron 20 1.384615 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCACTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 395 309 0.9996118 1 0.9998059 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04493773 0.02721988 0.9876224 0.9637271 NA 0.03607881 NA FALSE NA 0 -1.119 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AAT A,G 8.236e-06 17:50196990 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant 0.644447 0.18227 0.02192 0.095506 0.7680322 0.119578 1 TRUE NA ENSE00002386150_005 ENSE00002386150 005 17 48274318 48274487 - 53 54 63 G A 48274353 2527 135 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTTATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50196991 50196992 50196992 downstr_intron 18 1.346154 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTTATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 439 1081 0.9999062 0.997827 0.9988666 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04523212 0.02504692 0.9876224 0.9637271 NA 0.03513952 NA FALSE NA 0 1.833 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TGA G,A 1.647e-05 17:50196992 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant 1.160438 0.28286 0.10687 0.095506 0.869207 0.119578 1 TRUE 8.12275e-06 ENSE00002386150_006 ENSE00002386150 006 17 48274318 48274487 - 53 54 63 T G 48274356 2528 132 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGCGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50196994 50196995 50196995 downstr_intron 15 1.288462 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGCGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 312 129 1 1 1 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.0453259 0.02721988 0.9876224 0.9637271 NA 0.03627289 NA FALSE NA 0 -0.481 rs148110802 upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs148110802 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CTC T,G 8.236e-06 17:50196995 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant 1.280544 0.19509 0.04504 0.095506 0.7883602 0.119578 1 TRUE 4.06118e-06 ENSE00002386150_007 ENSE00002386150 007 17 48274318 48274487 - 53 54 63 G A 48274361 2529 127 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACTTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50196999 50197000 50197000 downstr_intron 10 1.192308 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACTTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 25 216 0.9214969 0.982776 0.9521365 0.9980986 0.9771462 0.9546741 0.9727801 NA NA -0.03317722 0.009995909 0.9876224 0.9637271 NA -0.01159065 NA FALSE NA 0.001 0.163 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs371715085 1 NA A:0.0002 A:0 AGG G,A 8.236e-06 17:50197000 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant 1.267414 0.19563 0.0478 0.095506 0.7901373 0.145805 1 TRUE 4.06114e-06 ENSE00002386150_008 ENSE00002386150 008 17 48274318 48274487 - 53 54 63 G A 48274374 2530 114 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACATAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197012 50197013 50197013 exon -4 0.9444444 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACATAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 504 174 0.9990983 1 0.9995492 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04442424 0.02721988 0.9876224 0.9637271 NA 0.03582206 NA FALSE NA 1 5.671 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TGT G,A 1.647e-05 17:50197013 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 synonymous_variant 1.105681 0.95998 0.90577 0.67177 0.9395592 0 1 TRUE 2.84273e-05 ENSE00002386150_009 ENSE00002386150 009 17 48274318 48274487 - 53 54 63 T A 48274385 2531 103 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGATTGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197023 50197024 50197024 exon -15 0.7407407 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGATTGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 649 2444 0.9984039 0.9726033 0.9855036 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04372977 -0.0001768364 0.9876224 0.9637271 NA 0.02177647 NA FALSE NA 1 3.444 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs374947065 1 NA A:0 A:0.0001 ATT T,A 8.236e-06 17:50197024 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 missense_variant 2.198168 0.9515 0.86217 0.67177 0.9475507 0 1 TRUE 8.12176e-06 ENSE00002386150_010 ENSE00002386150 010 17 48274318 48274487 - 53 54 63 G A 48274392 2532 96 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTTCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197030 50197031 50197031 exon -22 0.6111111 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTTCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 251 942 0.9973468 0.994044 0.9956954 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04267266 0.02126393 0.9876224 0.9637271 NA 0.0319683 NA FALSE NA 0.664 -0.546 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs369971149&COSM3519053 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 17:50197031 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 synonymous_variant 1.199174 0.82242 0.15144 0.67177 0.8261537 0 1 TRUE NA ENSE00002386150_012 ENSE00002386150 012 17 48274318 48274487 - 53 54 63 T G 48274413 2534 75 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGCTTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197051 50197052 50197052 exon 12 0.2222222 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGCTTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 292 930 0.999859 0.9973373 0.9985981 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04518488 0.02455716 0.9876224 0.9637271 NA 0.03487102 NA FALSE NA 0.989 0.882 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA ATC T,G 3.295e-05 17:50197052 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 synonymous_variant 1.502078 0.89058 0.62829 0.67177 0.842352 0 1 TRUE 3.65464e-05 ENSE00002386150_013 ENSE00002386150 013 17 48274318 48274487 - 53 54 63 G A 48274420 2535 68 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGTTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197058 50197059 50197059 exon 5 0.09259259 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGTTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 117 1644 0.9919955 0.9980552 0.9950253 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.03732138 0.02527508 0.9876224 0.9637271 NA 0.03129823 NA FALSE NA 1 5.691 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 rs559590117 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGC G,A 8.236e-06 17:50197059 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 missense_variant 4.265831 0.95961 0.93143 0.67177 0.9979481 0 1 TRUE 4.06065e-06 ENSE00002386150_014 ENSE00002386150 014 17 48274318 48274487 - 53 54 63 G A 48274427 2536 61 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCTAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197065 50197066 50197066 upstr_intron -3 -0.03174603 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCTAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 658 50 0.9990581 1 0.999529 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04438396 0.02721988 0.9876224 0.9637271 NA 0.03580192 NA FALSE NA 0.788 1.279 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TGG G,A 8.236e-06 17:50197066 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 splice_region_variant 2.093787 0.93944 0.73157 0.095506 0.9561949 0.981035 1 TRUE 1.2182e-05 ENSE00002386150_015 ENSE00002386150 015 17 48274318 48274487 - 53 54 63 G T 48274440 2537 48 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTATTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197078 50197079 50197079 upstr_intron -16 -0.2380952 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTATTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant 36 19 0.9882598 0.9771453 0.9827026 763 205 0.9982772 1 0.9991386 0.9980986 0.9771462 0.9546741 0.9727801 -0.00983876 -9.139078e-07 0.04360314 0.02721988 0.9876224 0.9637271 -0.004919837 0.03541151 0.04033135 FALSE FALSE 0 0.137 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA AGA G,T 8.236e-06 17:50197079 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant -0.008011 0.24191 0.1471 0.095506 0.6609216 0.14466 1 TRUE 8.12189e-06 ENSE00002386150_016 ENSE00002386150 016 17 48274318 48274487 - 53 54 63 A C 48274444 2538 44 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGGCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197082 50197083 50197083 upstr_intron -20 -0.3015873 AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGGCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 663 1162 0.9976805 0.9984123 0.9980464 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04300645 0.02563217 0.9876224 0.9637271 NA 0.03431931 NA FALSE NA 0 0.003 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GAC A,C 8.236e-06 17:50197083 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant -0.831694 0.07933 0.09135 0.095506 0.2899659 0.0909672 1 TRUE 1.62426e-05 ENSE00002386150_017 ENSE00002386150 017 17 48274318 48274487 - 53 54 63 G C 48274475 2539 13 AGGAGCTGGGTCGACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197113 50197114 50197114 upstr_intron -51 -0.7936508 AGGAGCTGGGTCGACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 1018 71 1 1 1 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.0453259 0.02721988 0.9876224 0.9637271 NA 0.03627289 NA FALSE NA 0 0.085 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA TGG G,C 1.647e-05 17:50197114 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant 0.139257 0.22368 0.12293 0.095506 0.6556401 0.068629 1 TRUE 8.12137e-06 ENSE00002386150_018 ENSE00002386150 018 17 48274318 48274487 - 53 54 63 G C 48274476 2540 12 AGGAGCTGGGTGCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 50197114 50197115 50197115 upstr_intron -52 -0.8095238 AGGAGCTGGGTGCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC mutant NA NA NA NA NA 141 930 0.9961428 0.9990476 0.9975952 0.9980986 0.9771462 0.9546741 0.9727801 NA NA 0.04146871 0.02626746 0.9876224 0.9637271 NA 0.03386809 NA FALSE NA 0 0.3 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGA G,C 8.236e-06 17:50197115 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003541153 intron_variant 0.204891 0.22789 0.11371 0.095506 0.6707092 0.068629 1 TRUE 4.06065e-06 ENSE00002386150_BRK ENSE00002386150 BRK 17 48274318 48274487 - 53 54 63 A,G; T,T NA NA NA AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCTTGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGACCGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC 50196956 50197126 NA NA NA NA NA NA AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCTTGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGACCGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC AGGAGCTGGGTCCACAGTGATGTGTTCTAATGGCCCTTCCTTGTCTTCTTCATCTCTCTCCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGTGAGTCACCTTTGAGTCATTTAAGCTCCCCAAGTCCCTAGCATACCCCCATC control NA NA NA NA NA 166 50 0 0.006471681 0.003235841 0.9980986 0.9771462 0.9546741 0.9727801 NA NA -0.9546741 -0.9663084 0.9876224 0.9637271 NA -0.9604913 NA TRUE NA NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00003541153 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002386196_000 ENSE00002386196 000 3 57843418 57843587 + 42 96 32 NA NA NA NA NA TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 NA NA NA NA NA NA TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT natural 83 77 0.9693963 0.990575 0.9799856 9008 10731 0.9206373 0.8918422 0.9062397 0.9693963 0.990575 0.9206373 0.8918422 0 0 0 0 0.9799856 0.9062397 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLMAP NA NA NA ENSG00000163681 ENSE00003619002 NA NA NA NA NA NA NA 0.999326 TRUE NA ENSE00002386196_001 ENSE00002386196 001 3 57843418 57843587 + 42 96 32 G T 57843432 1859 15 TGATGAGCTTATTATAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857704 57857705 57857705 upstr_intron -28 -0.6428571 TGATGAGCTTATTATAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 2422 1391 0.9345653 0.9985233 0.9665443 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.01392803 0.1066811 0.9799856 0.9062397 NA 0.06030454 NA FALSE NA 0 -1.306 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:57857705 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 intron_variant -0.014444 0.23191 0.02577 0.156188 0.5851786 0.148112 0.999326 TRUE 1.24236e-05 ENSE00002386196_002 ENSE00002386196 002 3 57843418 57843587 + 42 96 32 G C 57843432 1860 15 TGATGAGCTTATTACAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857704 57857705 57857705 upstr_intron -28 -0.6428571 TGATGAGCTTATTACAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 643 3563 0.9903786 0.9926098 0.9914942 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.06974137 0.1007675 0.9799856 0.9062397 NA 0.08525446 NA FALSE NA 0 -1.306 NA NA NA SLMAP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLMAP NA NA NA ENSG00000163681 ENSE00003619002 intron_variant -0.153783 0.24241 0.0889 0.156188 0.4586695 0.148112 0.999326 TRUE 8.2824e-06 ENSE00002386196_004 ENSE00002386196 004 3 57843418 57843587 + 42 96 32 A G 57843458 1862 41 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTGGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857730 57857731 57857731 upstr_intron -2 -0.02380952 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTGGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 1877 1360 0.008402929 0.0245253 0.01646412 0.9693963 0.990575 0.9206373 0.8918422 NA NA -0.9122343 -0.8673169 0.9799856 0.9062397 NA -0.8897756 NA TRUE NA 1 8.963 . splice_acceptor_variant&non_coding_transcript_variant HIGH SLMAP HGNC 16643 ENST00000467901 5/11 1 NA TAG A,G 8.236e-06 3:57857731 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 splice_acceptor_variant 4.688742 0.99405 0.99116 0.156188 0.9949032 0.977902 0.999326 TRUE NA ENSE00002386196_005 ENSE00002386196 005 3 57843418 57843587 + 42 96 32 C G 57843464 1863 47 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGGCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857736 57857737 57857737 exon 5 0.05208333 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGGCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 3704 1114 0.7760629 0.6294609 0.7027619 0.9693963 0.990575 0.9206373 0.8918422 NA NA -0.1445744 -0.2623813 0.9799856 0.9062397 NA -0.2034778 NA FALSE NA 1 7.487 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLMAP HGNC 16643 ENST00000467901 6/12 1 NA GCC C,G 8.236e-06 3:57857737 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 missense_variant 6.6968 0.99567 0.99006 0.732398 0.9980195 0 0.999326 TRUE 8.13081e-06 ENSE00002386196_006 ENSE00002386196 006 3 57843418 57843587 + 42 96 32 T C 57843467 1864 50 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTCACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857739 57857740 57857740 exon 8 0.08333333 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTCACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 2090 1031 0.970048 0.9899629 0.9800054 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.04941068 0.09812072 0.9799856 0.9062397 NA 0.0737657 NA FALSE NA 1 7.697 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLMAP HGNC 16643 ENST00000467901 6/12 1 NA TTA T,C 8.236e-06 3:57857740 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 missense_variant 5.02266 0.99377 0.98541 0.732398 0.9984254 0 0.999326 TRUE 4.06491e-06 ENSE00002386196_008 ENSE00002386196 008 3 57843418 57843587 + 42 96 32 T C 57843482 1866 65 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAACGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857754 57857755 57857755 exon 23 0.2395833 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAACGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 2473 3624 0.9988921 0.9975274 0.9982098 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.07825486 0.1056852 0.9799856 0.9062397 NA 0.09197004 NA FALSE NA 1 7.697 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLMAP HGNC 16643 ENST00000467901 6/12 1 NA ATG T,C 4.118e-05 3:57857755 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 missense_variant 4.344807 0.99377 0.98541 0.732398 0.9914155 0 0.999326 TRUE 2.03204e-05 ENSE00002386196_009 ENSE00002386196 009 3 57843418 57843587 + 42 96 32 C G 57843501 1867 84 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCGACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857773 57857774 57857774 exon 42 0.4375 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCGACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 830 223 0.940581 0.9992901 0.9699356 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.0199437 0.1074479 0.9799856 0.9062397 NA 0.06369581 NA FALSE NA 1 1.201 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLMAP HGNC 16643 ENST00000467901 6/12 1 NA CCA C,G 7.413e-05 3:57857774 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 synonymous_variant 1.236043 0.98211 0.88858 0.732398 0.7437636 0 0.999326 TRUE 7.31529e-05 ENSE00002386196_010 ENSE00002386196 010 3 57843418 57843587 + 42 96 32 C T 57843503 1868 86 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCATGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857775 57857776 57857776 exon 44 0.4583333 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCATGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 380 3519 0.9576221 0.9805871 0.9691046 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.03698481 0.0887449 0.9799856 0.9062397 NA 0.06286485 NA FALSE NA 1 7.487 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLMAP HGNC 16643 ENST00000467901 6/12 1 NA ACG C,T 1.647e-05 3:57857776 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 missense_variant 6.130024 0.99542 0.98654 0.732398 0.9991518 0 0.999326 TRUE 2.43853e-05 ENSE00002386196_011 ENSE00002386196 011 3 57843418 57843587 + 42 96 32 G A 57843504 1869 87 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACACTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857776 57857777 57857777 exon 45 0.46875 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACACTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 2022 785 0.9409081 0.9372814 0.9390947 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.02027078 0.04543915 0.9799856 0.9062397 NA 0.03285497 NA FALSE NA 0.006 -1.146 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLMAP HGNC 16643 ENST00000467901 6/12 COSM446926 1 NA CGC G,A 4.942e-05 3:57857777 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 synonymous_variant 1.610454 0.17061 0.05092 0.732398 0.6117746 0 0.999326 TRUE 4.8771e-05 ENSE00002386196_013 ENSE00002386196 013 3 57843418 57843587 + 42 96 32 C T 57843546 1871 129 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACTAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857818 57857819 57857819 exon -10 0.90625 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACTAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 411 629 0.08202534 0.2045341 0.1432797 0.9693963 0.990575 0.9206373 0.8918422 NA NA -0.8386119 -0.6873081 0.9799856 0.9062397 NA -0.76296 NA TRUE NA 1 2.425 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLMAP HGNC 16643 ENST00000467901 6/12 1 NA CCA C,T 8.236e-06 3:57857819 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 synonymous_variant 1.565226 0.98062 0.84487 0.732398 0.6820044 0 0.999326 TRUE 4.06904e-06 ENSE00002386196_014 ENSE00002386196 014 3 57843418 57843587 + 42 96 32 C T 57843561 1872 144 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTTCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857833 57857834 57857834 downstr_intron 6 1.193548 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTTCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 1093 4396 0.9960561 0.9937061 0.9948811 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.07541885 0.1018639 0.9799856 0.9062397 NA 0.08864137 NA FALSE NA 0 -0.385 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLMAP HGNC 16643 ENST00000467901 6/11 rs200859030 1 T:0.0006 T:0 T:0 NA T:0 T:0.003 T:0 TCC C,T 0.0001812 3:57857834 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 splice_region_variant 0.173345 0.23185 0.0294 0.088506 0.4398393 0.175156 0.999326 TRUE 0.000155637 ENSE00002386196_015 ENSE00002386196 015 3 57843418 57843587 + 42 96 32 A G 57843563 1873 146 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCGGTTGTTTTATATTTAAGAAACATT 57857690 57857860 57857835 57857836 57857836 downstr_intron 8 1.258065 TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCGGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT mutant NA NA NA NA NA 553 1867 0.9823022 0.9711133 0.9767077 0.9693963 0.990575 0.9206373 0.8918422 NA NA 0.06166489 0.07927107 0.9799856 0.9062397 NA 0.07046798 NA FALSE NA 0 0.948 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLMAP HGNC 16643 ENST00000467901 6/11 1 NA CAG A,G 2.471e-05 3:57857836 SLMAP HGNC Symbol protein_coding 173718 ENSG00000163681 ENSE00003619002 splice_region_variant 0.029016 0.26035 0.11584 0.088506 0.4464749 0.118929 0.999326 TRUE 1.63904e-05 ENSE00002386196_BRK ENSE00002386196 BRK 3 57843418 57843587 + 42 96 32 A,G; T,T NA NA NA TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTTTGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGCCATTCCAGTTGTTTTATATTTAAGAAACATT 57857690 57857860 NA NA NA NA NA NA TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTTTGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGCCATTCCAGTTGTTTTATATTTAAGAAACATT TGATGAGCTTATTAGAATCTGTTTTGTGATTTGTAATACTAGGAGGCCTTACATCGGGAACAAATGTTGGAACAGAAGTTAGCCACGCTTCAGCGGCTACTAGCCATCACCCAAGAGGCTTCAGATACCAGTTGGCAGGTATTCCAGTTGTTTTATATTTAAGAAACATT control 531 130 0 0 0 8361 4524 0.021472 0.007212265 0.01434213 0.9693963 0.990575 0.9206373 0.8918422 -0.9693963 -0.990575 -0.8991653 -0.88463 0.9799856 0.9062397 -0.9799856 -0.8918976 0.08808803 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003619002 NA NA NA NA NA NA NA NA NA NA ENSE00002386243_000 ENSE00002386243 000 5 145551434 145551603 - 39 81 50 NA NA NA NA NA ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT 146171870 146172040 NA NA NA NA NA NA ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT natural NA NA NA NA NA 1501 1204 0.9872553 0.919188 0.9532217 NA NA 0.9872553 0.919188 NA NA 0 0 NA 0.9532217 NA 0 NA FALSE NA NA NA NA NA NA LARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LARS NA NA NA ENSG00000133706 ENSE00003609043 NA NA NA NA NA NA NA 2.27045e-05 FALSE NA ENSE00002386243_006 ENSE00002386243 006 5 145551434 145551603 - 39 81 50 T C 145551461 1482 143 ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTGATAGGATTGGTTTCTACTCTTTTTAGT 146171870 146172040 146171897 146171898 146171898 downstr_intron 12 1.315789 ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTGATAGGATTGGTTTCTACTCTTTTTAGT ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT mutant NA NA NA NA NA 106 230 1 1 1 NA NA 0.9872553 0.919188 NA NA 0.01274467 0.08081195 NA 0.9532217 NA 0.04677831 NA FALSE NA 0 0.635 . intron_variant&non_coding_transcript_variant MODIFIER LARS HGNC 6512 ENST00000505223 3/4 1 NA TTA T,C 8.236e-06 5:146171898 LARS HGNC Symbol protein_coding 69622 ENSG00000133706 ENSE00003609043 intron_variant 0.567164 0.31878 0.13572 0.322412 0.6844706 0.052078 2.27045e-05 FALSE 4.17265e-06 ENSE00002386243_008 ENSE00002386243 008 5 145551434 145551603 - 39 81 50 C T 145551464 1484 140 ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCACTAATAGGATTGGTTTCTACTCTTTTTAGT 146171870 146172040 146171900 146171901 146171901 downstr_intron 9 1.236842 ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCACTAATAGGATTGGTTTCTACTCTTTTTAGT ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT mutant NA NA NA NA NA 275 22 1 1 1 NA NA 0.9872553 0.919188 NA NA 0.01274467 0.08081195 NA 0.9532217 NA 0.04677831 NA FALSE NA 0.003 0.071 . intron_variant&non_coding_transcript_variant MODIFIER LARS HGNC 6512 ENST00000505223 3/4 rs375149812 1 NA T:0.0002 T:0.0003 GCG C,T 0.0004942 5:146171901 LARS HGNC Symbol protein_coding 69622 ENSG00000133706 ENSE00003609043 intron_variant 0.704964 0.23127 0.06512 0.322412 0.6726996 0.0726652 2.27045e-05 FALSE 0.000488318 ENSE00002386243_014 ENSE00002386243 014 5 145551434 145551603 - 39 81 50 T C 145551528 1490 76 ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAGAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT 146171870 146172040 146171964 146171965 146171965 exon 26 0.3209877 ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAGAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT mutant NA NA NA NA NA 36 187 1 1 1 NA NA 0.9872553 0.919188 NA NA 0.01274467 0.08081195 NA 0.9532217 NA 0.04677831 NA FALSE NA 1 5.79 . intron_variant&non_coding_transcript_variant MODIFIER LARS HGNC 6512 ENST00000505223 3/4 1 NA TTT T,C 8.236e-06 5:146171965 LARS HGNC Symbol protein_coding 69622 ENSG00000133706 ENSE00003609043 missense_variant 2.301488 0.99428 0.99294 0.732398 0.9969607 0 2.27045e-05 FALSE 4.06157e-06 ENSE00002386243_017 ENSE00002386243 017 5 145551434 145551603 - 39 81 50 A G 145551548 1493 56 ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCCGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT 146171870 146172040 146171984 146171985 146171985 exon 6 0.07407407 ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCCGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT ATTTGTCTGGCATTTAAATTTGCAATTTAAATTTAATTTTATTTCTGTAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGTAAGATCGCTAATAGGATTGGTTTCTACTCTTTTTAGT mutant NA NA NA NA NA 952 1231 1 0.9983938 0.9991969 NA NA 0.9872553 0.919188 NA NA 0.01274467 0.07920579 NA 0.9532217 NA 0.04597523 NA FALSE NA 0.999 0.476 . intron_variant&non_coding_transcript_variant MODIFIER LARS HGNC 6512 ENST00000505223 3/4 1 NA CAG A,G 8.236e-06 5:146171985 LARS HGNC Symbol protein_coding 69622 ENSG00000133706 ENSE00003609043 synonymous_variant 0.075977 0.97485 0.89903 0.732398 0.6027701 0 2.27045e-05 FALSE 8.13266e-06 ENSE00002386532_000 ENSE00002386532 000 3 51930800 51930969 - 48 63 59 NA NA NA NA NA AGCCCCCACATCCCCAGCCCCAGCCCTGTGTGGTTTGGGAGGTCATACTTTTTCTGATTTCTCATTGGCATTGTCCACTGTCTGTGTCTCAACCAGAACTGGAGTTTTAGCCTGAAAAGGAAATGGGGAAAGAGAACAGACAAGATTGAGTTGTTTATTTCTCTTCTTAG 51896783 51896953 NA NA NA NA NA NA CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT natural 245 259 0.9028685 0.8976402 0.9002544 1383 2003 0.980226 0.9239342 0.9520801 0.9028685 0.8976402 0.980226 0.9239342 0 0 0 0 0.9002544 0.9520801 0 0 0 FALSE FALSE NA NA NA NA NA IQCF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IQCF1 NA NA NA ENSG00000173389 ENSE00003583832 NA NA NA NA NA NA NA 0.0468541 FALSE NA ENSE00002386532_006 ENSE00002386532 006 3 51930800 51930969 - 48 63 59 C G 51930843 1468 127 AGCCCCCACATCCCCAGCCCCAGCCCTGTGTGGTTTGGGAGGTGATACTTTTTCTGATTTCTCATTGGCATTGTCCACTGTCTGTGTCTCAACCAGAACTGGAGTTTTAGCCTGAAAAGGAAATGGGGAAAGAGAACAGACAAGATTGAGTTGTTTATTTCTCTTCTTAG 51896783 51896953 51896826 51896827 51896827 downstr_intron 5 1.106383 CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATCACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT mutant NA NA NA NA NA 56 695 0 0 0 0.9028685 0.8976402 0.980226 0.9239342 NA NA -0.980226 -0.9239342 0.9002544 0.9520801 NA -0.9520801 NA TRUE NA 0 0.32 . splice_region_variant&intron_variant LOW IQCF1 HGNC 28607 ENST00000310914 3/3 COSM3945580 1 NA TCA C,G 8.236e-06 3:51896827 IQCF1 HGNC Symbol protein_coding 8459 ENSG00000173389 ENSE00003583832 splice_region_variant -0.165412 0.17892 0.09041 0.080785 0.3135059 0.114035 0.0468541 FALSE NA ENSE00002386532_008 ENSE00002386532 008 3 51930800 51930969 - 48 63 59 T G 51930850 1470 120 AGCCCCCACATCCCCAGCCCCAGCCCTGTGTGGTTTGGGAGGTCATACTTGTTCTGATTTCTCATTGGCATTGTCCACTGTCTGTGTCTCAACCAGAACTGGAGTTTTAGCCTGAAAAGGAAATGGGGAAAGAGAACAGACAAGATTGAGTTGTTTATTTCTCTTCTTAG 51896783 51896953 51896833 51896834 51896834 exon -3 0.968254 CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAACAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT mutant NA NA NA NA NA 101 66 0.9799638 1 0.9899819 0.9028685 0.8976402 0.980226 0.9239342 NA NA -0.000262135 0.07606579 0.9002544 0.9520801 NA 0.03790183 NA FALSE NA 0 -1.751 NA NA NA IQCF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:51896834 IQCF1 HGNC Symbol protein_coding 8459 ENSG00000173389 ENSE00003583832 missense_variant -1.356261 0.12913 0.02665 0.516011 0.5411829 0 0.0468541 FALSE 4.06072e-06 ENSE00002386532_012 ENSE00002386532 012 3 51930800 51930969 - 48 63 59 T C 51930870 1474 100 AGCCCCCACATCCCCAGCCCCAGCCCTGTGTGGTTTGGGAGGTCATACTTTTTCTGATTTCTCATTGGCACTGTCCACTGTCTGTGTCTCAACCAGAACTGGAGTTTTAGCCTGAAAAGGAAATGGGGAAAGAGAACAGACAAGATTGAGTTGTTTATTTCTCTTCTTAG 51896783 51896953 51896853 51896854 51896854 exon -23 0.6507937 CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAGTGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT mutant NA NA NA NA NA 321 1503 0.9793406 0.9926075 0.9859741 0.9028685 0.8976402 0.980226 0.9239342 NA NA -0.0008854108 0.06867332 0.9002544 0.9520801 NA 0.03389396 NA FALSE NA 0 -0.392 . missense_variant MODERATE IQCF1 HGNC 28607 ENST00000310914 3/4 1 tolerated(0.76) benign(0.006) NA ATT T,C 8.236e-06 3:51896854 IQCF1 HGNC Symbol protein_coding 8459 ENSG00000173389 ENSE00003583832 missense_variant -1.131411 0.15354 0.04476 0.516011 0.5249472 0 0.0468541 FALSE 4.06058e-06 ENSE00002386532_020 ENSE00002386532 020 3 51930800 51930969 - 48 63 59 C T 51930936 1482 34 AGCCCCCACATCCCCAGCCCCAGCCCTGTGTGGTTTGGGAGGTCATACTTTTTCTGATTTCTCATTGGCATTGTCCACTGTCTGTGTCTCAACCAGAACTGGAGTTTTAGCCTGAAAAGGAAATGGGGAAAGAGAATAGACAAGATTGAGTTGTTTATTTCTCTTCTTAG 51896783 51896953 51896919 51896920 51896920 upstr_intron -26 -0.4237288 CTAAGAAGAGAAATAAACAACTCAATCTTGTCTATTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT mutant NA NA NA NA NA 361 96 0.998393 0.9698234 0.9841082 0.9028685 0.8976402 0.980226 0.9239342 NA NA 0.01816702 0.04588923 0.9002544 0.9520801 NA 0.03202813 NA FALSE NA 0 0.05 . intron_variant MODIFIER IQCF1 HGNC 28607 ENST00000310914 2/3 rs374427022 1 NA T:0 T:0.0001 ACA C,T 8.236e-06 3:51896920 IQCF1 HGNC Symbol protein_coding 8459 ENSG00000173389 ENSE00003583832 intron_variant -0.034921 0.18441 0.02841 0.06567 0.1529228 0.0716546 0.0468541 FALSE 4.06055e-06 ENSE00002386532_021 ENSE00002386532 021 3 51930800 51930969 - 48 63 59 A G 51930941 1483 29 AGCCCCCACATCCCCAGCCCCAGCCCTGTGTGGTTTGGGAGGTCATACTTTTTCTGATTTCTCATTGGCATTGTCCACTGTCTGTGTCTCAACCAGAACTGGAGTTTTAGCCTGAAAAGGAAATGGGGAAAGAGAACAGACGAGATTGAGTTGTTTATTTCTCTTCTTAG 51896783 51896953 51896924 51896925 51896925 upstr_intron -31 -0.5084746 CTAAGAAGAGAAATAAACAACTCAATCTCGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT mutant NA NA NA NA NA 513 42 0.9924071 0.8059842 0.8991957 0.9028685 0.8976402 0.980226 0.9239342 NA NA 0.01218114 -0.11795 0.9002544 0.9520801 NA -0.05288441 NA FALSE NA 0.01 1.174 . intron_variant MODIFIER IQCF1 HGNC 28607 ENST00000310914 2/3 1 NA CAA A,G 8.236e-06 3:51896925 IQCF1 HGNC Symbol protein_coding 8459 ENSG00000173389 ENSE00003583832 intron_variant -0.066689 0.22836 0.15293 0.06567 0.5764942 0.113845 0.0468541 FALSE NA ENSE00002386532_BRK ENSE00002386532 BRK 3 51930800 51930969 - 48 63 59 A,G; T,T NA NA NA AGCCCCCACATCCCCAGCCCCAGCCCTGTGTGGTTTGGGAGGTCATGGTTTTTCTGATTTCTCATTGGCATTGTCCACTGTCTGTGTCTCAACCAGAACTGGAGTTTTAGCAAGAAAAGGAAATGGGGAAAGAGAACAGACAAGATTGAGTTGTTTATTTCTCTTCTTAG 51896783 51896953 NA NA NA NA NA NA CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCTTGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAACCATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT CTAAGAAGAGAAATAAACAACTCAATCTTGTCTGTTCTCTTTCCCCATTTCCTTTTCAGGCTAAAACTCCAGTTCTGGTTGAGACACAGACAGTGGACAATGCCAATGAGAAATCAGAAAAAGTATGACCTCCCAAACCACACAGGGCTGGGGCTGGGGATGTGGGGGCT control 209 800 0 0 0 195 179 0.3352753 0.304073 0.3196741 0.9028685 0.8976402 0.980226 0.9239342 -0.9028685 -0.8976402 -0.6449507 -0.6198613 0.9002544 0.9520801 -0.9002544 -0.632406 0.2678484 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IQCF1 NA NA NA ENSG00000173389 ENSE00003583832 NA NA NA NA NA NA NA 0.0468541 FALSE NA ENSE00002386775_000 ENSE00002386775 000 12 102454996 102455165 - 30 99 41 NA NA NA NA NA GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 NA NA NA NA NA NA GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC natural 1514 1845 0.8508268 0.8331671 0.8419969 10497 19151 0.9023706 0.8937516 0.8980611 0.8508268 0.8331671 0.9023706 0.8937516 0 0 0 0 0.8419969 0.8980611 0 0 0 FALSE FALSE NA NA NA NA NA CCDC53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WASHC3 NA NA NA ENSG00000120860 ENSE00003689262 NA NA NA NA NA NA NA NA NA NA ENSE00002386775_001 ENSE00002386775 001 12 102454996 102455165 - 30 99 41 A G 102455006 2651 160 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGCTTATAGAGTC 102061217 102061387 102061227 102061228 102061228 downstr_intron 20 1.689655 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGCTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 42 69 0.85 0.85 0.85 1067 713 0.854118 0.8902504 0.8721842 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 0.01683286 -0.04825264 -0.00350118 0.8419969 0.8980611 0.008003053 -0.02587691 0.03387996 FALSE FALSE 0.001 0.535 . intron_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/2 1 NA AAC A,G 8.268e-06 12:102061228 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 intron_variant 0.094652 0.27214 0.02854 0 0.5251082 0.123917 NA NA 4.09293e-06 ENSE00002386775_002 ENSE00002386775 002 12 102454996 102455165 - 30 99 41 C T 102455008 2652 158 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTAGTTTATAGAGTC 102061217 102061387 102061229 102061230 102061230 downstr_intron 18 1.62069 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTAGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 128 274 0.85 0.7980365 0.8240182 763 763 0.86161 0.9011756 0.8813928 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 -0.03513066 -0.04076064 0.007424036 0.8419969 0.8980611 -0.01797871 -0.0166683 0.001310405 FALSE FALSE 0 -0.24 . intron_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/2 1 NA CCA C,T 8.268e-06 12:102061230 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 intron_variant 0.539072 0.21534 0.05834 0 0.5925011 0.123917 NA NA NA ENSE00002386775_003 ENSE00002386775 003 12 102454996 102455165 - 30 99 41 C T 102455014 2653 152 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTAATACTGGTTTATAGAGTC 102061217 102061387 102061235 102061236 102061236 downstr_intron 12 1.413793 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTAATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 2033 623 0.9924779 0.994172 0.9933249 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.09010732 0.1004204 0.8419969 0.8980611 NA 0.09526384 NA FALSE NA 0 0.429 . intron_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/2 rs374994338 1 NA T:0 T:0.0001 TCA C,T 4.961e-05 12:102061236 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 intron_variant 0.841905 0.48171 0.06219 0 0.6871989 0.95204 NA NA 0.000110219 ENSE00002386775_004 ENSE00002386775 004 12 102454996 102455165 - 30 99 41 C T 102455017 2654 149 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCAGTGATACTGGTTTATAGAGTC 102061217 102061387 102061238 102061239 102061239 downstr_intron 9 1.310345 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCAGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 33 45 0.8332094 0.85 0.8416047 598 2943 0.9330445 0.9485893 0.9408169 0.8508268 0.8331671 0.9023706 0.8937516 -0.01761731 0.01683286 0.03067385 0.05483765 0.8419969 0.8980611 -0.0003922248 0.04275575 0.04314798 FALSE FALSE 0 -0.779 . intron_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/2 1 NA CCG C,T 8.269e-06 12:102061239 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 intron_variant 0.649351 0.24134 0.01969 0 0.8425006 0.136974 NA NA NA ENSE00002386775_005 ENSE00002386775 005 12 102454996 102455165 - 30 99 41 G A 102455018 2655 148 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCTGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061239 102061240 102061240 downstr_intron 8 1.275862 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCTGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 946 217 0.9911491 0.9915064 0.9913277 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.08877847 0.09775482 0.8419969 0.8980611 NA 0.09326664 NA FALSE NA 0.143 0.309 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CCDC53 HGNC 24256 ENST00000536930 2/2 1 NA CGG G,A 8.269e-06 12:102061240 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 splice_region_variant 0.714591 0.25252 0.03539 0 0.7520169 0.136974 NA NA 8.15741e-06 ENSE00002386775_006 ENSE00002386775 006 12 102454996 102455165 - 30 99 41 C G 102455022 2656 144 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTACGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061243 102061244 102061244 downstr_intron 4 1.137931 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTACGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 38 33 0.85 0.85 0.85 427 1269 0.8 0.8097961 0.8048981 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 0.01683286 -0.1023706 -0.08395546 0.8419969 0.8980611 0.008003053 -0.09316303 0.1011661 FALSE FALSE 1 2.243 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW CCDC53 HGNC 24256 ENST00000536930 2/2 1 NA CCT C,G 8.27e-06 12:102061244 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 splice_region_variant 1.710277 0.94818 0.83824 0 0.9360012 0.880959 NA NA NA ENSE00002386775_007 ENSE00002386775 007 12 102454996 102455165 - 30 99 41 C T 102455025 2657 141 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGATAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061246 102061247 102061247 downstr_intron 1 1.034483 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGATAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 19 32 0 0 0 NA NA NA NA NA 0.8508268 0.8331671 0.9023706 0.8937516 -0.8508268 -0.8331671 NA NA 0.8419969 0.8980611 -0.8419969 NA NA NA TRUE 1 7.251 . splice_donor_variant&non_coding_transcript_variant HIGH CCDC53 HGNC 24256 ENST00000536930 2/2 1 NA ACC C,T 1.654e-05 12:102061247 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 splice_donor_variant 6.13263 0.97577 0.90148 0 0.9954393 0.990778 NA NA 1.62896e-05 ENSE00002386775_008 ENSE00002386775 008 12 102454996 102455165 - 30 99 41 T C 102455038 2658 128 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACGGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061259 102061260 102061260 exon -13 0.8787879 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACGGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 294 184 0 0 0 1173 1161 0.009912737 0.01784274 0.01387774 0.8508268 0.8331671 0.9023706 0.8937516 -0.8508268 -0.8331671 -0.8924579 -0.8759089 0.8419969 0.8980611 -0.8419969 -0.8841834 0.04218642 TRUE TRUE 0.681 -0.266 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA CTG T,C 2.482e-05 12:102061260 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 synonymous_variant 0.382194 0.89426 0.39182 0.627647 0.6943458 0 NA NA 1.62686e-05 ENSE00002386775_009 ENSE00002386775 009 12 102454996 102455165 - 30 99 41 A G 102455041 2659 125 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCCACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061262 102061263 102061263 exon -16 0.8484848 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCCACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 186 361 0.826059 0.85 0.8380295 957 950 0.8104224 0.800608 0.8055152 0.8508268 0.8331671 0.9023706 0.8937516 -0.02476774 0.01683286 -0.09194818 -0.09314359 0.8419969 0.8980611 -0.003967437 -0.09254588 0.08857845 FALSE FALSE 0.996 0.404 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA TAG A,G 8.272e-06 12:102061263 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 synonymous_variant 0.789147 0.91001 0.4471 0.627647 0.7691719 0 NA NA 1.22004e-05 ENSE00002386775_010 ENSE00002386775 010 12 102454996 102455165 - 30 99 41 A T 102455044 2660 122 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTATCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061265 102061266 102061266 exon -19 0.8181818 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTATCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 40 76 0.85 0.7783434 0.8141717 NA NA NA NA NA 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 -0.05482369 NA NA 0.8419969 0.8980611 -0.02782522 NA NA NA FALSE 1 2.047 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 rs200289876 1 NA T:0 T:0.0016 AAA A,T 0.0007445 12:102061266 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 missense_variant 5.925665 0.93297 0.72221 0.627647 0.9978701 0 NA NA 0.000768436 ENSE00002386775_011 ENSE00002386775 011 12 102454996 102455165 - 30 99 41 G T 102455047 2661 119 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGATTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061268 102061269 102061269 exon -22 0.7878788 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGATTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 549 460 0.9751116 0.9758393 0.9754754 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.07274097 0.08208772 0.8419969 0.8980611 NA 0.07741434 NA FALSE NA 0.293 -0.528 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 rs372954875 1 NA T:0 T:0.0001 AGC G,T 8.272e-06 12:102061269 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 synonymous_variant 0.717004 0.88861 0.22225 0.627647 0.8272143 0 NA NA 4.06653e-06 ENSE00002386775_012 ENSE00002386775 012 12 102454996 102455165 - 30 99 41 C T 102455048 2662 118 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCACTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061269 102061270 102061270 exon -23 0.7777778 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCACTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 18 37 0.85 0.85 0.85 1005 405 0.7844464 0.9222324 0.8533394 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 0.01683286 -0.1179242 0.02848084 0.8419969 0.8980611 0.008003053 -0.04472167 0.05272472 FALSE FALSE 1 4.493 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 rs377155225 1 NA T:0 T:0.0001 GCG C,T 1.654e-05 12:102061270 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 missense_variant 3.969233 0.95531 0.78278 0.627647 0.994024 0 NA NA 8.13359e-06 ENSE00002386775_013 ENSE00002386775 013 12 102454996 102455165 - 30 99 41 T C 102455051 2663 115 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAGCCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061272 102061273 102061273 exon -26 0.7474747 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAGCCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 311 1484 0.9834139 0.9636289 0.9735214 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.08104327 0.06987729 0.8419969 0.8980611 NA 0.07546028 NA FALSE NA 1 7.455 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA GTT T,C 8.272e-06 12:102061273 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 missense_variant 5.243182 0.96981 0.89585 0.627647 0.9990099 0 NA NA 8.13094e-06 ENSE00002386775_014 ENSE00002386775 014 12 102454996 102455165 - 30 99 41 C G 102455064 2664 102 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTCTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061285 102061286 102061286 exon -39 0.6161616 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTCTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 1682 74 0.933016 0.9884148 0.9607154 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.03064539 0.09466322 0.8419969 0.8980611 NA 0.06265431 NA FALSE NA 1 7.251 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA ACA C,G 8.274e-06 12:102061286 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 missense_variant 4.853268 0.97665 0.92058 0.627647 0.9971587 0 NA NA 4.06326e-06 ENSE00002386775_015 ENSE00002386775 015 12 102454996 102455165 - 30 99 41 A C 102455065 2665 101 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACGGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061286 102061287 102061287 exon -40 0.6060606 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACGGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 2236 582 0.9505727 0.9989115 0.9747421 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.04820211 0.1051599 0.8419969 0.8980611 NA 0.07668099 NA FALSE NA 0.892 -0.03 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA CAG A,C 8.274e-06 12:102061287 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 synonymous_variant -0.68437 0.89941 0.43933 0.627647 0.7312992 0 NA NA 1.21887e-05 ENSE00002386775_016 ENSE00002386775 016 12 102454996 102455165 - 30 99 41 T G 102455067 2666 99 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACCCTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061288 102061289 102061289 exon -42 0.5858586 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACCCTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 883 747 0.9615616 0.9274675 0.9445145 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.05919103 0.03371586 0.8419969 0.8980611 NA 0.04645344 NA FALSE NA 1 5.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:102061289 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 missense_variant 5.960594 0.95749 0.86423 0.627647 0.9966324 0 NA NA 9.75102e-05 ENSE00002386775_017 ENSE00002386775 017 12 102454996 102455165 - 30 99 41 T C 102455067 2667 99 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACGCTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061288 102061289 102061289 exon -42 0.5858586 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACGCTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 552 159 0.9977417 0.9997603 0.998751 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.09537109 0.1060087 0.8419969 0.8980611 NA 0.1006899 NA FALSE NA 1 5.6 NA NA NA CCDC53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WASHC3 NA NA NA ENSG00000120860 ENSE00003689262 missense_variant 5.482256 0.95678 0.8485 0.627647 0.9984886 0 NA NA 4.06293e-06 ENSE00002386775_018 ENSE00002386775 018 12 102454996 102455165 - 30 99 41 C G 102455073 2668 93 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGCTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061294 102061295 102061295 exon -48 0.5252525 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGCTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 17 64 0.85 0.85 0.85 1191 552 0.9567062 0.9856454 0.9711758 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 0.01683286 0.05433562 0.09189382 0.8419969 0.8980611 0.008003053 0.07311472 0.06511167 FALSE FALSE 1 7.251 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA ACC C,G 1.655e-05 12:102061295 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 missense_variant 3.779669 0.97663 0.92058 0.627647 0.9952321 0 NA NA 8.12651e-06 ENSE00002386775_019 ENSE00002386775 019 12 102454996 102455165 - 30 99 41 T G 102455080 2669 86 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCACTTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061301 102061302 102061302 exon 45 0.4545455 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCACTTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 134 216 0.8458986 0.85 0.8479493 75 992 0.8015582 0.8163703 0.8089642 0.8508268 0.8331671 0.9023706 0.8937516 -0.004928113 0.01683286 -0.1008124 -0.07738134 0.8419969 0.8980611 0.005952374 -0.08909689 0.09504926 FALSE FALSE 0.22 -0.399 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA ATT T,G 1.655e-05 12:102061302 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 missense_variant -0.089644 0.90628 0.25938 0.627647 0.7473525 0 NA NA 8.12645e-06 ENSE00002386775_020 ENSE00002386775 020 12 102454996 102455165 - 30 99 41 G A 102455083 2670 83 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAATCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061304 102061305 102061305 exon 42 0.4242424 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAATCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 130 412 0.8155156 0.85 0.8327578 641 1064 0.8410986 0.8883863 0.8647424 0.8508268 0.8331671 0.9023706 0.8937516 -0.0353112 0.01683286 -0.06127197 -0.005365348 0.8419969 0.8980611 -0.00923917 -0.03331866 0.02407949 FALSE FALSE 1 3.331 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA GGT G,A 1.655e-05 12:102061305 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 synonymous_variant 1.029141 0.94343 0.73658 0.627647 0.9080721 0 NA NA 1.21898e-05 ENSE00002386775_021 ENSE00002386775 021 12 102454996 102455165 - 30 99 41 T C 102455084 2671 82 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAGCCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061305 102061306 102061306 exon 41 0.4141414 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAGCCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 1152 1608 0.9986707 0.9884163 0.9935435 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.09630008 0.09466467 0.8419969 0.8980611 NA 0.09548238 NA FALSE NA 1 7.455 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:102061306 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 missense_variant 5.22241 0.96982 0.89601 0.627647 0.9987009 0 NA NA 1.21897e-05 ENSE00002386775_022 ENSE00002386775 022 12 102454996 102455165 - 30 99 41 T G 102455084 2672 82 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAACCCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061305 102061306 102061306 exon 41 0.4141414 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAACCCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 47 71 0.85 0.85 0.85 1298 799 0.9238484 0.9740073 0.9489278 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 0.01683286 0.02147778 0.08025566 0.8419969 0.8980611 0.008003053 0.05086672 0.04286366 FALSE FALSE 1 7.455 NA NA NA CCDC53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WASHC3 NA NA NA ENSG00000120860 ENSE00003689262 missense_variant 6.106532 0.97047 0.9085 0.627647 0.9961914 0 NA NA 8.12645e-06 ENSE00002386775_023 ENSE00002386775 023 12 102454996 102455165 - 30 99 41 C A 102455098 2673 68 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACTGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061319 102061320 102061320 exon 27 0.2727273 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACTGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 20 49 0.85 0.85 0.85 576 211 0.9732359 0.9725873 0.9729116 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 0.01683286 0.07086526 0.07883574 0.8419969 0.8980611 0.008003053 0.0748505 0.06684745 FALSE FALSE 0.278 -0.396 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA CCG C,A 8.275e-06 12:102061320 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 synonymous_variant 3.14682 0.90218 0.17021 0.660085 0.8228386 0 NA NA NA ENSE00002386775_024 ENSE00002386775 024 12 102454996 102455165 - 30 99 41 T C 102455101 2674 65 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGGACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061322 102061323 102061323 exon 24 0.2424242 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGGACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 655 261 0.9946656 0.9567053 0.9756854 0.8508268 0.8331671 0.9023706 0.8937516 NA NA 0.09229496 0.06295372 0.8419969 0.8980611 NA 0.07762434 NA FALSE NA 1 1.942 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA TTC T,C 8.275e-06 12:102061323 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 synonymous_variant 0.381181 0.93789 0.69003 0.660085 0.8215059 0 NA NA 4.06445e-06 ENSE00002386775_025 ENSE00002386775 025 12 102454996 102455165 - 30 99 41 A T 102455113 2675 53 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATACAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061334 102061335 102061335 exon 12 0.1212121 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATACAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 70 68 0.85 0.85 0.85 270 4492 0.9396035 0.9432641 0.9414338 0.8508268 0.8331671 0.9023706 0.8937516 -0.0008267565 0.01683286 0.0372329 0.04951245 0.8419969 0.8980611 0.008003053 0.04337267 0.03536962 FALSE FALSE 1 1.657 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 2/3 1 NA GAA A,T 8.274e-06 12:102061335 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 synonymous_variant 0.322314 0.93222 0.65416 0.660085 0.909518 0 NA NA 8.13339e-06 ENSE00002386775_026 ENSE00002386775 026 12 102454996 102455165 - 30 99 41 T C 102455126 2676 40 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACGGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061347 102061348 102061348 upstr_intron -2 -0.02439024 GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACGGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 184 295 0.03499138 0.02407843 0.0295349 0.8508268 0.8331671 0.9023706 0.8937516 NA NA -0.8673792 -0.8696732 0.8419969 0.8980611 NA -0.8685262 NA TRUE NA 1 7.455 . splice_acceptor_variant&non_coding_transcript_variant HIGH CCDC53 HGNC 24256 ENST00000536930 1/2 1 NA CTG T,C 8.275e-06 12:102061348 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 splice_acceptor_variant 5.507714 0.98051 0.93389 0.119682 0.9951614 0.990189 NA NA 8.15116e-06 ENSE00002386775_027 ENSE00002386775 027 12 102454996 102455165 - 30 99 41 A C 102455140 2677 26 GTTCCTCCTGTATGAACCATGTTTGGTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061361 102061362 102061362 upstr_intron -16 -0.3658537 GTTCCTCCTGTATGAACCATGTTTGGTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant NA NA NA NA NA 1424 1858 0.126314 0.0007137997 0.06351391 0.8508268 0.8331671 0.9023706 0.8937516 NA NA -0.7760566 -0.8930378 0.8419969 0.8980611 NA -0.8345472 NA TRUE NA 0.98 2.692 . intron_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 1/2 1 NA AAC A,C 8.275e-06 12:102061362 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 intron_variant 1.461397 0.96265 0.86256 0.093295 0.7761758 0.969261 NA NA 4.09816e-06 ENSE00002386775_028 ENSE00002386775 028 12 102454996 102455165 - 30 99 41 T C 102455147 2678 19 GTTCCTCCTGTATGAACCGTGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 102061368 102061369 102061369 upstr_intron -23 -0.5365854 GTTCCTCCTGTATGAACCGTGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC mutant 156 165 0.8464784 0.85 0.8482392 709 2233 0.9517936 0.9252315 0.9385125 0.8508268 0.8331671 0.9023706 0.8937516 -0.004348397 0.01683286 0.04942296 0.03147989 0.8419969 0.8980611 0.006242232 0.04045142 0.03420919 FALSE FALSE 0 -0.213 . intron_variant&non_coding_transcript_variant MODIFIER CCDC53 HGNC 24256 ENST00000536930 1/2 1 NA ATG T,C 8.275e-06 12:102061369 WASHC3 HGNC Symbol protein_coding 49222 ENSG00000120860 ENSE00003689262 intron_variant 0.920211 0.30487 0.04839 0.093295 0.709211 0.309037 NA NA NA ENSE00002386775_BRK ENSE00002386775 BRK 12 102454996 102455165 - 30 99 41 A,G; T,T NA NA NA GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACTTGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGCCAGGTCCGGTGATACTGGTTTATAGAGTC 102061217 102061387 NA NA NA NA NA NA GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACTTGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGCCAGGTCCGGTGATACTGGTTTATAGAGTC GTTCCTCCTGTATGAACCATGTTTGTTTTTACGTAACACAGGTGCCAGCTATTCAACAGAAAAGAACGGTGGCTTTTCTAAACCAATTTGTGGTGCACACTGTACAGTTCCTCAACCGCTTTTCTACAGTTTGTGAGGAGGTAGGTCCGGTGATACTGGTTTATAGAGTC control 150 182 0 0.007163542 0.003581771 NA NA NA NA NA 0.8508268 0.8331671 0.9023706 0.8937516 -0.8508268 -0.8260036 NA NA 0.8419969 0.8980611 -0.8384152 NA NA NA TRUE NA NA NA NA NA CCDC53 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA WASHC3 NA NA NA ENSG00000120860 ENSE00003689262 NA NA NA NA NA NA NA NA NA NA ENSE00002387405_000 ENSE00002387405 000 5 169267719 169267888 + 42 96 32 NA NA NA NA NA AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 NA NA NA NA NA NA AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG natural 64 70 0.9951803 0.9930773 0.9941288 8512 4890 0.9522281 0.9858727 0.9690504 0.9951803 0.9930773 0.9522281 0.9858727 0 0 0 0 0.9941288 0.9690504 0 0 0 FALSE FALSE NA NA NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003463097 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002387405_002 ENSE00002387405 002 5 169267719 169267888 + 42 96 32 C T 169267735 2135 17 AGTGTCCTGGTTGTCATATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840730 169840731 169840731 upstr_intron -26 -0.5952381 AGTGTCCTGGTTGTCATATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 2531 1884 0.9509332 0.9974947 0.974214 0.9951803 0.9930773 0.9522281 0.9858727 NA NA -0.001294889 0.01162199 0.9941288 0.9690504 NA 0.005163548 NA FALSE NA 0.044 0.03 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 12/37 rs568662686 1 NA ACA C,T 8.238e-06 5:169840731 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 intron_variant 0.223695 0.16558 0.01632 0.283894 0.4351901 0.0640786 0.9999999 TRUE 1.22919e-05 ENSE00002387405_003 ENSE00002387405 003 5 169267719 169267888 + 42 96 32 A G 169267736 2136 18 AGTGTCCTGGTTGTCACGTAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840731 169840732 169840732 upstr_intron -25 -0.5714286 AGTGTCCTGGTTGTCACGTAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1985 611 0.9978992 0.9958459 0.9968725 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04567106 0.009973138 0.9941288 0.9690504 NA 0.0278221 NA FALSE NA 0.001 -0.003 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 12/37 rs369497145 1 NA G:0 G:0.0001 CAT A,G 8.238e-06 5:169840732 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 intron_variant -0.082033 0.16725 0.01936 0.283894 0.3509233 0.0640786 0.9999999 TRUE 8.18612e-06 ENSE00002387405_004 ENSE00002387405 004 5 169267719 169267888 + 42 96 32 T C 169267741 2137 23 AGTGTCCTGGTTGTCACATAGACGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840736 169840737 169840737 upstr_intron -20 -0.452381 AGTGTCCTGGTTGTCACATAGACGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 693 971 0.9950179 0.9955361 0.995277 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04278974 0.009663394 0.9941288 0.9690504 NA 0.02622657 NA FALSE NA 0.886 2.428 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 12/37 1 NA ATG T,C 8.238e-06 5:169840737 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 intron_variant 0.542291 0.33889 0.68244 0.283894 0.8469361 0.0640786 0.9999999 TRUE 4.0856e-06 ENSE00002387405_005 ENSE00002387405 005 5 169267719 169267888 + 42 96 32 C T 169267758 2138 40 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTATAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840753 169840754 169840754 upstr_intron -3 -0.04761905 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTATAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 413 577 0.9993004 1 0.9996502 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04707227 0.01412728 0.9941288 0.9690504 NA 0.03059978 NA FALSE NA 0.939 1.328 rs144101028 splice_region_variant&intron_variant LOW DOCK2 HGNC 2988 ENST00000540750 12/37 rs144101028 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 ACA C,T 9.885e-05 5:169840754 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 splice_region_variant 1.723908 0.97594 0.72384 0.283894 0.8842412 0.80819 0.9999999 TRUE 5.29333e-05 ENSE00002387405_006 ENSE00002387405 006 5 169267719 169267888 + 42 96 32 G A 169267761 2139 43 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGACCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840756 169840757 169840757 exon 1 0.01041667 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGACCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 516 1246 0.7493904 0.8513385 0.8003644 0.9951803 0.9930773 0.9522281 0.9858727 NA NA -0.2028377 -0.1345343 0.9941288 0.9690504 NA -0.168686 NA FALSE NA 1 2.749 . splice_region_variant&5_prime_UTR_variant LOW DOCK2 HGNC 2988 ENST00000540750 13/38 1 NA GGC G,A 8.238e-06 5:169840757 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 4.331492 0.97012 0.82953 0.631515 0.9961369 0 0.9999999 TRUE 4.07083e-06 ENSE00002387405_007 ENSE00002387405 007 5 169267719 169267888 + 42 96 32 C T 169267768 2140 50 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCATCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840763 169840764 169840764 exon 8 0.08333333 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCATCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 3719 1368 0.969463 0.9765187 0.9729909 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.01723493 -0.009353985 0.9941288 0.9690504 NA 0.003940474 NA FALSE NA 1 4.991 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 1 NA ACC C,T 8.238e-06 5:169840764 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 4.747571 0.9864 0.91898 0.706298 0.9984933 0 0.9999999 TRUE NA ENSE00002387405_008 ENSE00002387405 008 5 169267719 169267888 + 42 96 32 G A 169267784 2141 66 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAAGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840779 169840780 169840780 exon 24 0.25 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAAGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1864 1836 0.9966803 0.8809991 0.9388397 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04445219 -0.1048737 0.9941288 0.9690504 NA -0.03021073 NA FALSE NA 0.997 0.419 rs261623 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 rs261623 1 A:0.3954 A:0.6415 A:0.389 NA A:0.1577 A:0.4155 A:0.2914 A:0.6033 A:0.4119 AGG G,A 0.396 5:169840780 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 synonymous_variant 0.443673 0.93506 0.13863 0.706298 0.5478376 0 0.9999999 TRUE 0.392215 ENSE00002387405_009 ENSE00002387405 009 5 169267719 169267888 + 42 96 32 G C 169267799 2142 81 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCACCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840794 169840795 169840795 exon 39 0.40625 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCACCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 2489 387 0.9983198 1 0.9991599 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04609173 0.01412728 0.9941288 0.9690504 NA 0.03010951 NA FALSE NA 1 1.357 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 1 NA AGC G,C 8.237e-06 5:169840795 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 1.493444 0.9621 0.74805 0.631515 0.9903854 0 0.9999999 TRUE 4.06573e-06 ENSE00002387405_010 ENSE00002387405 010 5 169267719 169267888 + 42 96 32 G A 169267807 2143 89 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCAGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840802 169840803 169840803 exon 47 0.4895833 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCAGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1120 2587 1 0.9967952 0.9983976 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04777189 0.01092252 0.9941288 0.9690504 NA 0.0293472 NA FALSE NA 1 6.268 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 1 NA CGG G,A 8.237e-06 5:169840803 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 6.775086 0.98586 0.94452 0.719381 0.9990809 0 0.9999999 TRUE 8.13259e-06 ENSE00002387405_011 ENSE00002387405 011 5 169267719 169267888 + 42 96 32 C T 169267810 2144 92 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGATAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840805 169840806 169840806 exon -47 0.5208333 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGATAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1045 1119 0.9110593 0.9965927 0.953826 0.9951803 0.9930773 0.9522281 0.9858727 NA NA -0.04116878 0.01072 0.9941288 0.9690504 NA -0.01522439 NA FALSE NA 0.966 2.437 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 rs574377757 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACA C,T 8.237e-06 5:169840806 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 2.459951 0.98519 0.77505 0.719381 0.9969819 0 0.9999999 TRUE 4.0658e-06 ENSE00002387405_012 ENSE00002387405 012 5 169267719 169267888 + 42 96 32 G A 169267814 2145 96 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTAAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840809 169840810 169840810 exon -43 0.5625 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTAAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1173 125 0.9996486 0.9765187 0.9880836 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04742052 -0.00935406 0.9941288 0.9690504 NA 0.01903323 NA FALSE NA 1 1.839 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 rs376912207 1 NA A:0 A:0.0001 TGA G,A 1.647e-05 5:169840810 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 synonymous_variant 0.8159 0.95757 0.6901 0.719381 0.6305048 0 0.9999999 TRUE 8.13206e-06 ENSE00002387405_013 ENSE00002387405 013 5 169267719 169267888 + 42 96 32 C G 169267817 2146 99 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAAGCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840812 169840813 169840813 exon -40 0.59375 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAAGCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 691 176 0.9992232 0.9910957 0.9951594 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04699507 0.005222961 0.9941288 0.9690504 NA 0.02610902 NA FALSE NA 1 1.316 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 1 NA ACC C,G 1.647e-05 5:169840813 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 2.728723 0.97054 0.82524 0.719381 0.9965712 0 0.9999999 TRUE 8.13173e-06 ENSE00002387405_014 ENSE00002387405 014 5 169267719 169267888 + 42 96 32 G A 169267819 2147 101 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCAGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840814 169840815 169840815 exon -38 0.6145833 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCAGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 690 847 0.9452024 0.9999551 0.9725787 0.9951803 0.9930773 0.9522281 0.9858727 NA NA -0.007025674 0.01408234 0.9941288 0.9690504 NA 0.003528331 NA FALSE NA 1 3.572 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 rs370529585 1 NA A:0 A:0.0001 CGG G,A 2.471e-05 5:169840815 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 3.310175 0.98586 0.86402 0.719381 0.9952762 0 0.9999999 TRUE 2.84643e-05 ENSE00002387405_015 ENSE00002387405 015 5 169267719 169267888 + 42 96 32 A G 169267833 2148 115 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCGTGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840828 169840829 169840829 exon -24 0.7604167 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCGTGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1497 1274 0.9649298 0.9894266 0.9771782 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.01270169 0.003553831 0.9941288 0.9690504 NA 0.008127758 NA FALSE NA 0.998 3.993 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 1 NA CAT A,G 8.237e-06 5:169840829 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 3.310193 0.98173 0.89157 0.719381 0.9855552 0 0.9999999 TRUE 8.13392e-06 ENSE00002387405_016 ENSE00002387405 016 5 169267719 169267888 + 42 96 32 C T 169267839 2149 121 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCTGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840834 169840835 169840835 exon -18 0.8229167 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCTGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1786 37 0.9950327 1 0.9975163 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04280458 0.01412728 0.9941288 0.9690504 NA 0.02846593 NA FALSE NA 0.997 3.352 . 5_prime_UTR_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/38 rs200070944 1 NA CCG C,T 1.647e-05 5:169840835 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 7.966738 0.97457 0.8474 0.719381 0.9989301 0 0.9999999 TRUE 1.62745e-05 ENSE00002387405_017 ENSE00002387405 017 5 169267719 169267888 + 42 96 32 T C 169267855 2150 137 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGACTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840850 169840851 169840851 exon -2 0.9895833 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGACTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1173 1932 0.9198155 0.9276842 0.9237499 0.9951803 0.9930773 0.9522281 0.9858727 NA NA -0.03241258 -0.05818849 0.9941288 0.9690504 NA -0.04530054 NA FALSE NA 1 5.128 . splice_region_variant&5_prime_UTR_variant LOW DOCK2 HGNC 2988 ENST00000540750 13/38 1 NA ATT T,C 8.238e-06 5:169840851 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 missense_variant 1.419593 0.98194 0.91098 0.719381 0.9957886 0 0.9999999 TRUE 4.07362e-06 ENSE00002387405_018 ENSE00002387405 018 5 169267719 169267888 + 42 96 32 A T 169267865 2151 147 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGTTTATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840860 169840861 169840861 downstr_intron 9 1.290323 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGTTTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1436 2262 0.9967754 0.998369 0.9975722 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04454731 0.0124963 0.9941288 0.9690504 NA 0.02852181 NA FALSE NA 0.005 0.896 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/37 1 NA GAT A,T 8.238e-06 5:169840861 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 intron_variant 0.212921 0.16076 0.02325 0.093477 0.5583743 0.111952 0.9999999 TRUE 8.16893e-06 ENSE00002387405_019 ENSE00002387405 019 5 169267719 169267888 + 42 96 32 T G 169267867 2152 149 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATGATTTCTTCTTGTCAAATGTTG 169840714 169840884 169840862 169840863 169840863 downstr_intron 11 1.354839 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATGATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 1283 1105 1 1 1 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04777189 0.01412728 0.9941288 0.9690504 NA 0.03094958 NA FALSE NA 0 -0.703 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/37 1 NA TTA T,G 8.238e-06 5:169840863 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 intron_variant 0.209465 0.15614 0.05354 0.093477 0.5351806 0.111952 0.9999999 TRUE 4.08971e-06 ENSE00002387405_020 ENSE00002387405 020 5 169267719 169267888 + 42 96 32 T G 169267877 2153 159 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTGGTCAAATGTTG 169840714 169840884 169840872 169840873 169840873 downstr_intron 21 1.677419 AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTGGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG mutant NA NA NA NA NA 120 399 1 0.9996034 0.9998017 0.9951803 0.9930773 0.9522281 0.9858727 NA NA 0.04777189 0.0137307 0.9941288 0.9690504 NA 0.03075129 NA FALSE NA 0.001 0.452 . intron_variant MODIFIER DOCK2 HGNC 2988 ENST00000540750 13/37 rs373080861 1 G:0.0008 G:0 G:0 NA G:0.004 G:0 G:0 TTG T,G 5.768e-05 5:169840873 DOCK2 HGNC Symbol protein_coding 446135 ENSG00000134516 ENSE00003463097 intron_variant 0.788648 0.16456 0.04781 0.093477 0.6661052 0.100256 0.9999999 TRUE 6.60044e-05 ENSE00002387405_BRK ENSE00002387405 BRK 5 169267719 169267888 + 42 96 32 A,G; T,T NA NA NA AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACTTGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTCCGAGTGGATTATTTCTTCTTGTCAAATGTTG 169840714 169840884 NA NA NA NA NA NA AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACTTGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTCCGAGTGGATTATTTCTTCTTGTCAAATGTTG AGTGTCCTGGTTGTCACATAGATGTCTCTGACTGTTTTACAGGCCTTCACCTACCACCATATCCAGGAGATCATGGTCCAGCTGCTGCGGACAGTGAACCGGACAGTCATCACCATGGGCCGGGATCACATTCTGATTGTGAGTGGATTATTTCTTCTTGTCAAATGTTG control 490 284 0.01337514 0 0.006687568 1005 1091 0.02371635 0.03387175 0.02879405 0.9951803 0.9930773 0.9522281 0.9858727 -0.9818052 -0.9930773 -0.9285118 -0.952001 0.9941288 0.9690504 -0.9874412 -0.9402564 0.04718485 TRUE TRUE NA NA NA NA NA DOCK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK2 NA NA NA ENSG00000134516 ENSE00003463097 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002387468_000 ENSE00002387468 000 7 111407052 111407221 - 36 87 47 NA NA NA NA NA GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 NA NA NA NA NA NA GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC natural NA NA NA NA NA 1499 1881 0.9965062 0.9981896 0.9973479 NA NA 0.9965062 0.9981896 NA NA 0 0 NA 0.9973479 NA 0 NA FALSE NA NA NA NA NA NA DOCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK4 NA NA NA ENSG00000128512 ENSE00003542793 NA NA NA NA NA NA NA 0.9985357 TRUE NA ENSE00002387468_001 ENSE00002387468 001 7 111407052 111407221 - 36 87 47 C T 111407075 2302 147 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGAATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767018 111767019 111767019 downstr_intron 13 1.371429 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGAATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 1216 160 0.9926456 1 0.9963228 NA NA 0.9965062 0.9981896 NA NA -0.00386069 0.001810386 NA 0.9973479 NA -0.001025152 NA FALSE NA 0 0.06 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000428084 38/52 1 NA TCC C,T 8.272e-06 7:111767019 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 intron_variant 0.07872 0.22645 0.06169 0.067858 0.4856321 0.0978179 0.9985357 TRUE 4.07854e-06 ENSE00002387468_002 ENSE00002387468 002 7 111407052 111407221 - 36 87 47 G T 111407079 2303 143 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGACTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767022 111767023 111767023 downstr_intron 9 1.257143 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGACTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 240 411 0.9736568 0.9992296 0.9864432 NA NA 0.9965062 0.9981896 NA NA -0.02284946 0.001040008 NA 0.9973479 NA -0.01090473 NA FALSE NA 0 0.558 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000428084 38/52 rs369611717 1 NA T:0.0003 T:0 GGC G,T 8.272e-06 7:111767023 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 intron_variant 0.998918 0.25768 0.04869 0.067858 0.7538098 0.0959328 0.9985357 TRUE 4.07721e-06 ENSE00002387468_003 ENSE00002387468 003 7 111407052 111407221 - 36 87 47 G A 111407090 2304 132 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGTGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767033 111767034 111767034 exon -3 0.9770115 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGTGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 1450 67 0.8930135 0.9571402 0.9250768 NA NA 0.9965062 0.9981896 NA NA -0.1034928 -0.04104945 NA 0.9973479 NA -0.0722711 NA FALSE NA 1 1.256 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:111767034 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 missense_variant 6.631858 0.97085 0.83379 0.67177 0.9988357 0 0.9985357 TRUE 3.25916e-05 ENSE00002387468_004 ENSE00002387468 004 7 111407052 111407221 - 36 87 47 G T 111407090 2305 132 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGAGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767033 111767034 111767034 exon -3 0.9770115 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGAGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 133 146 0.8668729 0.8 0.8334365 NA NA 0.9965062 0.9981896 NA NA -0.1296333 -0.1981896 NA 0.9973479 NA -0.1639115 NA FALSE NA 1 1.256 NA NA NA DOCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK4 NA NA NA ENSG00000128512 ENSE00003542793 splice_region_variant 1.446474 0.96065 0.44351 0.67177 0.8196859 0 0.9985357 TRUE 1.62958e-05 ENSE00002387468_005 ENSE00002387468 005 7 111407052 111407221 - 36 87 47 A G 111407092 2306 130 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGACGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767035 111767036 111767036 exon -5 0.954023 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGACGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 1981 64 0.9764612 0.9925132 0.9844872 NA NA 0.9965062 0.9981896 NA NA -0.02004508 -0.005676401 NA 0.9973479 NA -0.01286074 NA FALSE NA 1 9.091 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000428084 38/53 1 deleterious(0.01) possibly_damaging(0.693) NA CAT A,G 8.273e-06 7:111767036 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 missense_variant 5.645379 0.99407 0.99161 0.67177 0.9930335 0 0.9985357 TRUE 4.07093e-06 ENSE00002387468_006 ENSE00002387468 006 7 111407052 111407221 - 36 87 47 T G 111407096 2307 126 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCCAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767039 111767040 111767040 exon -9 0.908046 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCCAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 122 536 1 0.9875808 0.9937904 NA NA 0.9965062 0.9981896 NA NA 0.003493753 -0.01060882 NA 0.9973479 NA -0.003557536 NA FALSE NA 1 4.825 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000428084 38/53 1 tolerated(0.49) possibly_damaging(0.877) NA TTG T,G 2.482e-05 7:111767040 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 missense_variant 4.151428 0.99 0.96326 0.67177 0.9925743 0 0.9985357 TRUE 2.44242e-05 ENSE00002387468_007 ENSE00002387468 007 7 111407052 111407221 - 36 87 47 G A 111407102 2308 120 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACTTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767045 111767046 111767046 exon -15 0.8390805 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACTTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 106 337 0.9550654 0.9569722 0.9560188 NA NA 0.9965062 0.9981896 NA NA -0.04144081 -0.04121742 NA 0.9973479 NA -0.04132912 NA FALSE NA 1 4.385 . synonymous_variant LOW DOCK4 HGNC 19192 ENST00000428084 38/53 1 NA AGG G,A 8.272e-06 7:111767046 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 synonymous_variant 1.030599 0.98953 0.95893 0.67177 0.8089837 0 0.9985357 TRUE 4.07027e-06 ENSE00002387468_008 ENSE00002387468 008 7 111407052 111407221 - 36 87 47 A G 111407120 2309 102 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTCATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767063 111767064 111767064 exon -33 0.6321839 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTCATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 22 200 0.95 1 0.975 NA NA 0.9965062 0.9981896 NA NA -0.04650625 0.001810386 NA 0.9973479 NA -0.02234793 NA FALSE NA 1 6.148 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000428084 38/53 rs377586020 1 deleterious(0.04) possibly_damaging(0.785) NA G:0 G:0.0001 TAA A,G 8.272e-06 7:111767064 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 missense_variant 4.372326 0.98989 0.95415 0.67177 0.9986387 0 0.9985357 TRUE 4.06928e-06 ENSE00002387468_012 ENSE00002387468 012 7 111407052 111407221 - 36 87 47 C G 111407151 2313 71 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTCTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767094 111767095 111767095 exon 24 0.2758621 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTCTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 304 78 1 1 1 NA NA 0.9965062 0.9981896 NA NA 0.003493753 0.001810386 NA 0.9973479 NA 0.00265207 NA FALSE NA 0.998 0.286 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000428084 38/53 COSM1250554&COSM1250553 1 deleterious(0) probably_damaging(0.996) NA ACA C,G 1.654e-05 7:111767095 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 missense_variant 6.151889 0.98652 0.8916 0.67177 0.9989009 0 0.9985357 TRUE 2.03683e-05 ENSE00002387468_014 ENSE00002387468 014 7 111407052 111407221 - 36 87 47 G T 111407160 2315 62 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGAATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767103 111767104 111767104 exon 15 0.1724138 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGAATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 1487 63 0.9734104 0.9974813 0.9854458 NA NA 0.9965062 0.9981896 NA NA -0.02309588 -0.0007083219 NA 0.9973479 NA -0.0119021 NA FALSE NA 1 1.459 . synonymous_variant LOW DOCK4 HGNC 19192 ENST00000428084 38/53 rs370281015 1 NA T:0 T:0.0001 TGC G,T 8.271e-06 7:111767104 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 synonymous_variant 0.742014 0.97886 0.90351 0.67177 0.6908621 0 0.9985357 TRUE 4.07674e-06 ENSE00002387468_015 ENSE00002387468 015 7 111407052 111407221 - 36 87 47 T C 111407167 2316 55 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGGGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767110 111767111 111767111 exon 8 0.09195402 GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGGGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 80 244 0.876801 0.9599203 0.9183607 NA NA 0.9965062 0.9981896 NA NA -0.1197052 -0.03826935 NA 0.9973479 NA -0.07898728 NA FALSE NA 1 7.827 . missense_variant MODERATE DOCK4 HGNC 19192 ENST00000428084 38/53 1 deleterious(0) probably_damaging(0.991) NA CTC T,C 8.271e-06 7:111767111 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 missense_variant 6.540176 0.99388 0.98577 0.67177 0.9992865 0 0.9985357 TRUE NA ENSE00002387468_016 ENSE00002387468 016 7 111407052 111407221 - 36 87 47 G A 111407187 2317 35 GTGGATATTGTCAGATGGTTCCATTGATCTCATTTATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767130 111767131 111767131 upstr_intron -13 -0.2553191 GTGGATATTGTCAGATGGTTCCATTGATCTCATTTATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 141 71 0.9989114 1 0.9994557 NA NA 0.9965062 0.9981896 NA NA 0.002405157 0.001810386 NA 0.9973479 NA 0.002107772 NA FALSE NA 0 1.316 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:111767131 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 intron_variant 1.913341 0.29101 0.03125 0.067858 0.7699399 0.134562 0.9985357 TRUE 4.08995e-06 ENSE00002387468_017 ENSE00002387468 017 7 111407052 111407221 - 36 87 47 G C 111407187 2318 35 GTGGATATTGTCAGATGGTTCCATTGATCTCATTGATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767130 111767131 111767131 upstr_intron -13 -0.2553191 GTGGATATTGTCAGATGGTTCCATTGATCTCATTGATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 2762 1115 0.8403687 0.934962 0.8876654 NA NA 0.9965062 0.9981896 NA NA -0.1561375 -0.06322757 NA 0.9973479 NA -0.1096825 NA FALSE NA 0 1.316 NA NA NA DOCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK4 NA NA NA ENSG00000128512 ENSE00003542793 intron_variant 1.523508 0.3231 0.3534 0.067858 0.8036252 0.134562 0.9985357 TRUE 4.08995e-06 ENSE00002387468_020 ENSE00002387468 020 7 111407052 111407221 - 36 87 47 T A 111407195 2321 27 GTGGATATTGTCAGATGGTTCCATTGTTCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767138 111767139 111767139 upstr_intron -21 -0.4255319 GTGGATATTGTCAGATGGTTCCATTGTTCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 146 31 0.9598766 0.95 0.9549383 NA NA 0.9965062 0.9981896 NA NA -0.03662961 -0.04818961 NA 0.9973479 NA -0.04240961 NA FALSE NA 0 -1.759 . intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000428084 37/52 1 NA ATC T,A 8.272e-06 7:111767139 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 intron_variant 0.517314 0.26792 0.03911 0.067858 0.7697887 0.0482152 0.9985357 TRUE 8.19511e-06 ENSE00002387468_021 ENSE00002387468 021 7 111407052 111407221 - 36 87 47 A G 111407198 2322 24 GTGGATATTGTCAGATGGTTCCACTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 111767141 111767142 111767142 upstr_intron -24 -0.4893617 GTGGATATTGTCAGATGGTTCCACTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC mutant NA NA NA NA NA 24 119 1 1 1 NA NA 0.9965062 0.9981896 NA NA 0.003493753 0.001810386 NA 0.9973479 NA 0.00265207 NA FALSE NA 0 0.466 rs7801388 intron_variant MODIFIER DOCK4 HGNC 19192 ENST00000428084 37/52 rs7801388 1 G:0.1036 G:0.3404 G:0.0245 NA G:0.0218 G:0.003 G:0.0276 G:0.2474 G:0.0028 AAT A,G 0.028 7:111767142 DOCK4 HGNC Symbol protein_coding 480301 ENSG00000128512 ENSE00003542793 intron_variant 0.224596 0.53561 0.23249 0.067858 0.7042248 0.0482152 0.9985357 TRUE 0.0242615 ENSE00002387468_BRK ENSE00002387468 BRK 7 111407052 111407221 - 36 87 47 A,G; T,T NA NA NA GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACTTTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGCCAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC 111766995 111767165 NA NA NA NA NA NA GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACTTTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGCCAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC GTGGATATTGTCAGATGGTTCCATTGATCTCATTCATTTGTCCACAGTGTTGGGAGAATGGCATTATCTTGTGCCGGAAGATTGCAGAGCAGTATGAGAGTTATTATGACTACAGAAACCTGAGCAAGATGCGGGTAAGGTGCCTGGATGCATCCTGATCAGGCCATAGC control NA NA NA NA NA 2734 79 0.0144589 0 0.00722945 NA NA 0.9965062 0.9981896 NA NA -0.9820473 -0.9981896 NA 0.9973479 NA -0.9901185 NA TRUE NA NA NA NA NA NA DOCK4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DOCK4 NA NA NA ENSG00000128512 ENSE00003542793 NA NA NA NA NA NA NA 0.9985357 TRUE NA ENSE00002387555_000 ENSE00002387555 000 5 150664144 150664313 - 30 99 41 NA NA NA NA NA CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 NA NA NA NA NA NA CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC natural 40 39 0.9947843 0.9914848 0.9931345 861 1058 0.9383544 0.991441 0.9648977 0.9947843 0.9914848 0.9383544 0.991441 0 0 0 0 0.9931345 0.9648977 0 0 0 FALSE FALSE NA NA NA NA NA SLC36A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC36A3 NA NA NA ENSG00000186334 ENSE00003504898 NA NA NA NA NA NA NA 1.186093e-06 FALSE NA ENSE00002387555_001 ENSE00002387555 001 5 150664144 150664313 - 30 99 41 G A 150664154 1958 160 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCATGCGAATGGTC 151284582 151284752 151284592 151284593 151284593 downstr_intron 20 1.689655 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCATGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 40 318 1 1 1 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 0.008559037 0.9931345 0.9648977 NA 0.03510231 NA FALSE NA 0 -0.419 . intron_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/8 rs376221705 1 NA A:0 A:0.0001 CGT G,A 2.471e-05 5:151284593 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 intron_variant 0.128827 0.26572 0.05909 0.070351 0.7074994 0.0623188 1.186093e-06 FALSE NA ENSE00002387555_002 ENSE00002387555 002 5 150664144 150664313 - 30 99 41 C A 150664174 1959 140 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATTGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284612 151284613 151284613 exon -1 1 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATTGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 52 131 1 0.999709 0.9998545 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 0.008267998 0.9931345 0.9648977 NA 0.03495679 NA FALSE NA 1 4.284 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SLC36A3 HGNC 19659 ENST00000423071 6/9 rs368322733 1 NA A:0.0002 A:0 CCA C,A 8.237e-06 5:151284613 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 missense_variant 3.809952 0.96793 0.89796 0.525926 0.9829789 0 1.186093e-06 FALSE NA ENSE00002387555_003 ENSE00002387555 003 5 150664144 150664313 - 30 99 41 C T 150664182 1960 132 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCATCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284620 151284621 151284621 exon -9 0.9191919 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCATCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 478 1272 1 0.9974465 0.9987233 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 0.006005584 0.9931345 0.9648977 NA 0.03382558 NA FALSE NA 0.992 1.986 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 1 NA ACG C,T 1.647e-05 5:151284621 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 missense_variant 1.259727 0.92286 0.31 0.525926 0.8990361 0 1.186093e-06 FALSE 8.162e-06 ENSE00002387555_004 ENSE00002387555 004 5 150664144 150664313 - 30 99 41 G C 150664183 1961 131 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGGGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284621 151284622 151284622 exon -10 0.9090909 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGGGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 11 995 1 0.999841 0.9999205 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 0.008400057 0.9931345 0.9648977 NA 0.03502282 NA FALSE NA 0.416 -0.666 rs17111902 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 rs17111902&COSM3761041 1 C:0.0998 C:0.295 C:0.0403 NA C:0 C:0.0408 C:0.0419 C:0.2674 C:0.0441 CGC G,C 0.057 5:151284622 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 synonymous_variant 0.648255 0.59566 0.24242 0.525926 0.8009091 0 1.186093e-06 FALSE 0.0514809 ENSE00002387555_005 ENSE00002387555 005 5 150664144 150664313 - 30 99 41 A G 150664199 1962 115 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCACCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284637 151284638 151284638 exon -26 0.7474747 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCACCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 368 167 0.9987484 1 0.9993742 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06039398 0.008559037 0.9931345 0.9648977 NA 0.03447651 NA FALSE NA 1 8.558 rs78802617 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 rs78802617 1 G:0.0010 G:0.0038 G:0 NA G:0 G:0 G:0 G:0.0023 G:0 GAT A,G 0.0002471 5:151284638 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 missense_variant 3.958183 0.96276 0.94798 0.525926 0.9968128 0 1.186093e-06 FALSE 0.000170768 ENSE00002387555_009 ENSE00002387555 009 5 150664144 150664313 - 30 99 41 A G 150664210 1966 104 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTCGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284648 151284649 151284649 exon -37 0.6363636 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTCGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 155 152 1 1 1 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 0.008559037 0.9931345 0.9648977 NA 0.03510231 NA FALSE NA 0.857 -0.035 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 rs369695535 1 NA G:0 G:0.0001 CAA A,G 8.236e-06 5:151284649 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 synonymous_variant 1.067195 0.93076 0.31231 0.55562 0.746513 0 1.186093e-06 FALSE 8.12803e-06 ENSE00002387555_010 ENSE00002387555 010 5 150664144 150664313 - 30 99 41 A G 150664223 1967 91 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTCCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284661 151284662 151284662 exon -50 0.5050505 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTCCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 627 1230 0.9915838 0.9989724 0.9952781 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.05322935 0.00753142 0.9931345 0.9648977 NA 0.03038038 NA FALSE NA 1 1.79 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 1 NA GAA A,G 8.236e-06 5:151284662 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 missense_variant 3.285516 0.94257 0.74569 0.55562 0.9959656 0 1.186093e-06 FALSE 4.06352e-06 ENSE00002387555_011 ENSE00002387555 011 5 150664144 150664313 - 30 99 41 A G 150664224 1968 90 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCCTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284662 151284663 151284663 exon 49 0.4949495 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCCTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 87 52 0.9874342 1 0.9937171 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.04907974 0.008559037 0.9931345 0.9648977 NA 0.02881939 NA FALSE NA 1 3.925 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 1 NA AAG A,G 8.236e-06 5:151284663 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 missense_variant 2.692577 0.94948 0.75478 0.55562 0.9015036 0 1.186093e-06 FALSE 4.06375e-06 ENSE00002387555_012 ENSE00002387555 012 5 150664144 150664313 - 30 99 41 G A 150664225 1969 89 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACTTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284663 151284664 151284664 exon 48 0.4848485 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACTTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 257 107 1 1 1 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 0.008559037 0.9931345 0.9648977 NA 0.03510231 NA FALSE NA 0.996 0.446 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 rs372259529 1 NA A:0 A:0.0001 AGG G,A 5.765e-05 5:151284664 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 synonymous_variant 1.491411 0.91182 0.5769 0.55562 0.8574735 0 1.186093e-06 FALSE 3.25103e-05 ENSE00002387555_017 ENSE00002387555 017 5 150664144 150664313 - 30 99 41 C G 150664243 1974 71 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTCATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284681 151284682 151284682 exon 30 0.3030303 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTCATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 33 4415 1 0.9997064 0.9998532 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 0.008265422 0.9931345 0.9648977 NA 0.0349555 NA FALSE NA 0 -0.344 NA NA NA SLC36A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:151284682 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 missense_variant 1.609369 0.78787 0.23131 0.55562 0.9242765 0 1.186093e-06 FALSE NA ENSE00002387555_019 ENSE00002387555 019 5 150664144 150664313 - 30 99 41 G A 150664246 1976 68 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCTTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284684 151284685 151284685 exon 27 0.2727273 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCTTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 101 213 1 0.9537258 0.9768629 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 -0.03771517 0.9931345 0.9648977 NA 0.01196521 NA FALSE NA 0 -0.187 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 1 NA AGG G,A 8.236e-06 5:151284685 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 synonymous_variant 0.594846 0.69383 0.12297 0.55562 0.7043185 0 1.186093e-06 FALSE NA ENSE00002387555_020 ENSE00002387555 020 5 150664144 150664313 - 30 99 41 A C 150664250 1977 64 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCGACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284688 151284689 151284689 exon 23 0.2323232 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCGACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 179 511 0.9657701 0.9942114 0.9799908 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.02741568 0.002770484 0.9931345 0.9648977 NA 0.01509308 NA FALSE NA 1 6.389 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC36A3 HGNC 19659 ENST00000423071 6/9 1 NA TAG A,C 1.647e-05 5:151284689 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 missense_variant 4.298067 0.97671 0.94846 0.55562 0.9966781 0 1.186093e-06 FALSE 8.13127e-06 ENSE00002387555_024 ENSE00002387555 024 5 150664144 150664313 - 30 99 41 C A 150664270 1981 44 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGTATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 151284708 151284709 151284709 exon 3 0.03030303 CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGTATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC mutant NA NA NA NA NA 104 577 1 0.999934 0.999967 0.9947843 0.9914848 0.9383544 0.991441 NA NA 0.06164558 0.008493054 0.9931345 0.9648977 NA 0.03506932 NA FALSE NA 0.959 0.588 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SLC36A3 HGNC 19659 ENST00000423071 6/9 1 NA TCC C,A 8.237e-06 5:151284709 SLC36A3 HGNC Symbol protein_coding 27004 ENSG00000186334 ENSE00003504898 splice_region_variant 0.779374 0.80119 0.53317 0.55562 0.7586265 0 1.186093e-06 FALSE NA ENSE00002387555_BRK ENSE00002387555 BRK 5 150664144 150664313 - 30 99 41 A,G; T,T NA NA NA CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTTTGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGCCAAGATTGATGGGGTTCACGCGAATGGTC 151284582 151284752 NA NA NA NA NA NA CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTTTGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGCCAAGATTGATGGGGTTCACGCGAATGGTC CACCATAACAACACCAATGTGCTTCTCCCACTTTCTTTTAGGGGATTCCATATCCCAGCAACCTACCCTTGATGGCAAACTGGAAGACCTTCTTGCTGTTCTTTGGTACAGCCATCTTCACATTTGAAGGCGTCGGTATGGTAAGATTGATGGGGTTCACGCGAATGGTC control 60 44 0 0 0 29 61 0 0 0 0.9947843 0.9914848 0.9383544 0.991441 -0.9947843 -0.9914848 -0.9383544 -0.991441 0.9931345 0.9648977 -0.9931345 -0.9648977 0.02823683 TRUE TRUE NA NA NA NA NA SLC36A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC36A3 NA NA NA ENSG00000186334 ENSE00003504898 NA NA NA NA NA NA NA 1.186093e-06 FALSE NA ENSE00002388229_000 ENSE00002388229 000 2 218759675 218759844 - 54 51 65 NA NA NA NA NA CTCTCTCTCCTCGCCGCCCTCCTCACCCTCACCTCCTCATGCTCTCTTCCTTTTGCTCCTTCTAGCTGTTCAACCTCTCTGAGCGGAGACCTGACATCACGAAGCTCCATGCCAAGGTGAGCCAGGGGCTGTTTTGGGGTAGGGGAGGAGAAGGAGAACAGATGGACTCC 217894951 217895121 NA NA NA NA NA NA CTCTCTCTCCTCGCCGCCCTCCTCACCCTCACCTCCTCATGCTCTCTTCCTTTTGCTCCTTCTAGCTGTTCAACCTCTCTGAGCGGAGACCTGACATCACGAAGCTCCATGCCAAGGTGAGCCAGGGGCTGTTTTGGGGTAGGGGAGGAGAAGGAGAACAGATGGACTCC CTCTCTCTCCTCGCCGCCCTCCTCACCCTCACCTCCTCATGCTCTCTTCCTTTTGCTCCTTCTAGCTGTTCAACCTCTCTGAGCGGAGACCTGACATCACGAAGCTCCATGCCAAGGTGAGCCAGGGGCTGTTTTGGGGTAGGGGAGGAGAAGGAGAACAGATGGACTCC natural 49 28 0.9815636 0.9966222 0.9890929 584 1216 0.994395 0.9911081 0.9927515 0.9815636 0.9966222 0.994395 0.9911081 0 0 0 0 0.9890929 0.9927515 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003674029 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00002388259_000 ENSE00002388259 000 3 124201611 124201780 + 44 93 33 NA NA NA NA NA CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT 124482763 124482933 NA NA NA NA NA NA CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT natural NA NA NA NA NA 1276 1319 0.9921631 0.999711 0.995937 NA NA 0.9921631 0.999711 NA NA 0 0 NA 0.995937 NA 0 NA FALSE NA NA NA NA NA NA KALRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KALRN NA NA NA ENSG00000160145 ENSE00003639880 NA NA NA NA NA NA NA 0.9999969 TRUE NA ENSE00002388259_001 ENSE00002388259 001 3 124201611 124201780 + 44 93 33 G A 124201624 2449 14 CACACCCCTCTGTATCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT 124482763 124482933 124482776 124482777 124482777 upstr_intron -31 -0.6818182 CACACCCCTCTGTATCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT mutant NA NA NA NA NA 126 42 0.9839066 1 0.9919533 NA NA 0.9921631 0.999711 NA NA -0.008256485 0.00028905 NA 0.995937 NA -0.003983717 NA FALSE NA 0.002 0.285 . intron_variant MODIFIER KALRN HGNC 4814 ENST00000240874 27/33 rs371253706 1 NA A:0.0002 A:0.0001 TGT G,A 5.765e-05 3:124482777 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00003639880 intron_variant 0.522225 0.20665 0.05257 0.061011 0.7383222 0.046875 0.9999969 TRUE 5.28748e-05 ENSE00002388259_002 ENSE00002388259 002 3 124201611 124201780 + 44 93 33 T C 124201630 2450 20 CACACCCCTCTGTGTCTAACTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT 124482763 124482933 124482782 124482783 124482783 upstr_intron -25 -0.5454545 CACACCCCTCTGTGTCTAACTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT mutant NA NA NA NA NA 390 530 1 1 1 NA NA 0.9921631 0.999711 NA NA 0.007836928 0.00028905 NA 0.995937 NA 0.004062989 NA FALSE NA 0 -0.522 . intron_variant MODIFIER KALRN HGNC 4814 ENST00000240874 27/33 rs376157671 1 NA C:0 C:0.0001 ATT T,C 1.647e-05 3:124482783 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00003639880 intron_variant 0.212491 0.21666 0.0092 0.061011 0.7901459 0.0828504 0.9999969 TRUE 1.62607e-05 ENSE00002388259_006 ENSE00002388259 006 3 124201611 124201780 + 44 93 33 C A 124201647 2454 37 CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATACCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT 124482763 124482933 124482799 124482800 124482800 upstr_intron -8 -0.1590909 CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATACCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT mutant NA NA NA NA NA 25 134 0.967849 1 0.9839245 NA NA 0.9921631 0.999711 NA NA -0.02431403 0.00028905 NA 0.995937 NA -0.01201249 NA FALSE NA 0.003 0.619 . splice_region_variant&intron_variant LOW KALRN HGNC 4814 ENST00000240874 27/33 1 NA TCC C,A 8.236e-06 3:124482800 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00003639880 splice_region_variant 1.994667 0.99168 0.67319 0.061011 0.8957098 0.748248 0.9999969 TRUE 4.06326e-06 ENSE00002388259_007 ENSE00002388259 007 3 124201611 124201780 + 44 93 33 T C 124201659 2455 49 CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGACACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT 124482763 124482933 124482811 124482812 124482812 exon 5 0.05376344 CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGACACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT mutant NA NA NA NA NA 173 95 1 1 1 NA NA 0.9921631 0.999711 NA NA 0.007836928 0.00028905 NA 0.995937 NA 0.004062989 NA FALSE NA 1 7.846 . missense_variant MODERATE KALRN HGNC 4814 ENST00000240874 28/34 1 deleterious(0) possibly_damaging(0.793) NA ATA T,C 8.236e-06 3:124482812 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00003639880 missense_variant 5.636738 0.99395 0.98221 0.638212 0.9972563 0 0.9999969 TRUE 2.03087e-05 ENSE00002388259_010 ENSE00002388259 010 3 124201611 124201780 + 44 93 33 G A 124201668 2458 58 CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCAGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT 124482763 124482933 124482820 124482821 124482821 exon 14 0.1505376 CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCAGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT mutant NA NA NA NA NA 545 149 0.9991881 1 0.999594 NA NA 0.9921631 0.999711 NA NA 0.007024991 0.00028905 NA 0.995937 NA 0.00365702 NA FALSE NA 1 9.629 . missense_variant MODERATE KALRN HGNC 4814 ENST00000240874 28/34 rs200295956 1 deleterious(0.01) benign(0.138) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0001 CGG G,A 2.471e-05 3:124482821 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00003639880 missense_variant 5.675272 0.99555 0.99087 0.638212 0.9993841 0 0.9999969 TRUE 2.84356e-05 ENSE00002388259_015 ENSE00002388259 015 3 124201611 124201780 + 44 93 33 A G 124201735 2463 125 CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAGCTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT 124482763 124482933 124482887 124482888 124482888 exon -13 0.8709677 CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAGCTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT mutant NA NA NA NA NA 255 32 0.9902419 1 0.995121 NA NA 0.9921631 0.999711 NA NA -0.001921131 0.00028905 NA 0.995937 NA -0.0008160403 NA FALSE NA 0.052 -0.522 . synonymous_variant LOW KALRN HGNC 4814 ENST00000240874 28/34 1 NA AAC A,G 8.236e-06 3:124482888 KALRN HGNC Symbol protein_coding 646302 ENSG00000160145 ENSE00003639880 synonymous_variant 0.182564 0.96642 0.104 0.638212 0.5073071 0 0.9999969 TRUE 4.0627e-06 ENSE00002388259_BRK ENSE00002388259 BRK 3 124201611 124201780 + 44 93 33 A,G; T,T NA NA NA CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCTTGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGCCACCTCCCCTCCCCTCTACATCCCCCTCCACT 124482763 124482933 NA NA NA NA NA NA CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCTTGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGCCACCTCCCCTCCCCTCTACATCCCCCTCCACT CACACCCCTCTGTGTCTAATTGCACATTGTTCTCATCCCTGCAGGAGATACAACAGCGGCATGGTCTGGCCAACTCCATCTCTTCCTACCTAATTAAGCCTGTCCAAAGGATCACCAAATATCAACTGCTCCTGAAGGTACCTCCCCTCCCCTCTACATCCCCCTCCACT control 98 17 0 0 0 NA NA NA NA NA NA NA 0.9921631 0.999711 NA NA NA NA NA 0.995937 NA NA NA NA NA NA NA NA NA NA KALRN NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KALRN NA NA NA ENSG00000160145 ENSE00003639880 NA NA NA NA NA NA NA 0.9999969 TRUE NA ENSE00002388417_000 ENSE00002388417 000 2 233613655 233613824 + 42 96 32 NA NA NA NA NA GAGTTTGCTGGGGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 NA NA NA NA NA NA AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC natural 24 13 0.997346 0.9955663 0.9964561 5654 3989 0.8991531 0.9545274 0.9268403 0.997346 0.9955663 0.8991531 0.9545274 0 0 0 0 0.9964561 0.9268403 0 0 0 FALSE FALSE NA NA NA NA NA GIGYF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GIGYF2 NA NA NA ENSG00000204120 ENSE00003621346 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002388417_001 ENSE00002388417 001 2 233613655 233613824 + 42 96 32 A G 233613668 5341 14 AGAAATAGCATTAGTCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 232748957 232748958 232748958 upstr_intron -29 -0.6666667 AGAAATAGCATTAGTCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 1329 573 0.9990361 0.9991226 0.9990794 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.09988301 0.0445952 0.9964561 0.9268403 NA 0.07223911 NA FALSE NA 0 -0.373 . intron_variant MODIFIER GIGYF2 HGNC 11960 ENST00000423659 4/17 1 NA AAT A,G 8.236e-06 2:232748958 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 intron_variant 0.124711 0.23699 0.16055 0.091178 0.5002033 0.153787 1 TRUE 8.13061e-06 ENSE00002388417_003 ENSE00002388417 003 2 233613655 233613824 + 42 96 32 C T 233613670 5343 16 AGAAATAGCATTAATTTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 232748959 232748960 232748960 upstr_intron -27 -0.6190476 AGAAATAGCATTAATTTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 1016 76 0.8988461 1 0.949423 0.997346 0.9955663 0.8991531 0.9545274 NA NA -0.0003069984 0.04547257 0.9964561 0.9268403 NA 0.02258278 NA FALSE NA 0 -0.592 . intron_variant MODIFIER GIGYF2 HGNC 11960 ENST00000423659 4/17 rs373208479 1 NA T:0.0002 T:0.0001 TCT C,T 3.295e-05 2:232748960 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 intron_variant 0.088171 0.21462 0.10512 0.091178 0.1907233 0.181759 1 TRUE 4.47096e-05 ENSE00002388417_004 ENSE00002388417 004 2 233613655 233613824 + 42 96 32 T C 233613689 5344 35 GAGTTTGCTGGGGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGGCCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232748978 232748979 232748979 upstr_intron -8 -0.1666667 AGAAATAGCATTAATCTCATAATCATGTGTTTGGCCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 3981 336 0.9803871 0.999529 0.989958 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.08123398 0.04500158 0.9964561 0.9268403 NA 0.06311778 NA FALSE NA 0 0.795 . splice_region_variant&intron_variant LOW GIGYF2 HGNC 11960 ENST00000423659 4/17 1 NA GTC T,C 8.236e-06 2:232748979 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 splice_region_variant -0.233876 0.29395 0.13579 0.139865 0.3961053 0.229358 1 TRUE 4.06336e-06 ENSE00002388417_005 ENSE00002388417 005 2 233613655 233613824 + 42 96 32 A G 233613697 5345 43 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGGTACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 232748986 232748987 232748987 exon 1 0.01041667 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGGTACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 2263 2098 0.9970908 0.9999065 0.9984986 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.09793771 0.04537903 0.9964561 0.9268403 NA 0.07165837 NA FALSE NA 1 4.386 . missense_variant&splice_region_variant MODERATE GIGYF2 HGNC 11960 ENST00000423659 5/18 rs573169813 1 tolerated(1) benign(0.084) G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 GAT A,G 8.237e-05 2:232748987 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 missense_variant 0.880421 0.95591 0.9275 0.722319 0.3034632 0 1 TRUE 6.09385e-05 ENSE00002388417_007 ENSE00002388417 007 2 233613655 233613824 + 42 96 32 G C 233613714 5347 60 GAGTTTGCTGGGGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCGAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749003 232749004 232749004 exon 18 0.1875 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTCGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 439 646 1 0.9999411 0.9999705 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.1008469 0.04541363 0.9964561 0.9268403 NA 0.07313028 NA FALSE NA 1 1.895 rs143370656 synonymous_variant LOW GIGYF2 HGNC 11960 ENST00000423659 5/18 rs143370656 1 NA C:0.0007 C:0 TGG G,C 8.236e-06 2:232749004 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 synonymous_variant -0.166246 0.94314 0.89019 0.722319 0.60064 0 1 TRUE 8.12466e-06 ENSE00002388417_008 ENSE00002388417 008 2 233613655 233613824 + 42 96 32 T G 233613717 5348 63 GAGTTTGCTGGGGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTCTCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749006 232749007 232749007 exon 21 0.21875 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGAGAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 113 76 0.9581631 1 0.9790816 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.05901007 0.04547257 0.9964561 0.9268403 NA 0.05224132 NA FALSE NA 1 1.823 . missense_variant MODERATE GIGYF2 HGNC 11960 ENST00000423659 5/18 1 deleterious(0.03) probably_damaging(0.956) NA ATA T,G 8.236e-06 2:232749007 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 missense_variant 2.948617 0.9429 0.88429 0.722319 0.9870613 0 1 TRUE 8.1244e-06 ENSE00002388417_009 ENSE00002388417 009 2 233613655 233613824 + 42 96 32 C G 233613727 5349 73 GAGTTTGCTGGGGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCACAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749016 232749017 232749017 exon 31 0.3229167 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTGTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 1020 1272 0.9827657 1 0.9913828 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.08361259 0.04547257 0.9964561 0.9268403 NA 0.06454258 NA FALSE NA 0.998 0.715 . missense_variant MODERATE GIGYF2 HGNC 11960 ENST00000423659 5/18 1 tolerated(0.14) probably_damaging(0.931) NA TCT C,G 0.0001318 2:232749017 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 missense_variant 3.262025 0.98807 0.94973 0.722319 0.9833951 0 1 TRUE 0.000105613 ENSE00002388417_010 ENSE00002388417 010 2 233613655 233613824 + 42 96 32 G A 233613729 5350 75 GAGTTTGCTGGGGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGTAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749018 232749019 232749019 exon 33 0.34375 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTACCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 294 1642 0.9994784 0.9997214 0.9995999 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.1003253 0.04519396 0.9964561 0.9268403 NA 0.07275962 NA FALSE NA 1 1.752 . synonymous_variant LOW GIGYF2 HGNC 11960 ENST00000423659 5/18 1 NA TGC G,A 8.236e-06 2:232749019 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 synonymous_variant 0.080598 0.98407 0.93669 0.722319 0.3610292 0 1 TRUE 4.06207e-06 ENSE00002388417_011 ENSE00002388417 011 2 233613655 233613824 + 42 96 32 C A 233613730 5351 76 GAGTTTGCTGGGGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGTCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749019 232749020 232749020 exon 34 0.3541667 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGACTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 518 743 1 1 1 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.1008469 0.04547257 0.9964561 0.9268403 NA 0.07315975 NA FALSE NA 1 4.852 . missense_variant MODERATE GIGYF2 HGNC 11960 ENST00000423659 5/18 1 deleterious(0.01) probably_damaging(0.987) NA GCC C,A 8.236e-06 2:232749020 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 missense_variant 4.074588 0.99594 0.98675 0.722319 0.9943294 0 1 TRUE 4.0619e-06 ENSE00002388417_013 ENSE00002388417 013 2 233613655 233613824 + 42 96 32 A G 233613740 5353 86 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCGGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 232749029 232749030 232749030 exon 44 0.4583333 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCGGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 1800 1328 0.9975517 1 0.9987758 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.09839861 0.04547257 0.9964561 0.9268403 NA 0.07193559 NA FALSE NA 1 9.286 . missense_variant MODERATE GIGYF2 HGNC 11960 ENST00000423659 5/18 1 deleterious(0.01) possibly_damaging(0.608) NA CAG A,G 8.236e-06 2:232749030 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 missense_variant 4.528422 0.99433 0.99425 0.722319 0.9910147 0 1 TRUE 4.06207e-06 ENSE00002388417_014 ENSE00002388417 014 2 233613655 233613824 + 42 96 32 C T 233613766 5354 112 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTTTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 232749055 232749056 232749056 exon -27 0.7291667 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTTTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 253 758 1 1 1 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.1008469 0.04547257 0.9964561 0.9268403 NA 0.07315975 NA FALSE NA 1 4.888 . synonymous_variant LOW GIGYF2 HGNC 11960 ENST00000423659 5/18 rs374831276 1 NA T:0 T:0.0002 TCT C,T 0.00014 2:232749056 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 synonymous_variant 0.82657 0.98951 0.969 0.722319 0.4676514 0 1 TRUE 0.000186861 ENSE00002388417_015 ENSE00002388417 015 2 233613655 233613824 + 42 96 32 C T 233613774 5355 120 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCTTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 232749063 232749064 232749064 exon -19 0.8125 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCTTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 138 13 0.9997014 1 0.9998507 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.1005483 0.04547257 0.9964561 0.9268403 NA 0.07301045 NA FALSE NA 0.999 0.355 . synonymous_variant LOW GIGYF2 HGNC 11960 ENST00000423659 5/18 1 NA CCT C,T 8.236e-06 2:232749064 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 synonymous_variant 1.303683 0.98034 0.80117 0.722319 0.6043013 0 1 TRUE 4.06246e-06 ENSE00002388417_016 ENSE00002388417 016 2 233613655 233613824 + 42 96 32 A G 233613783 5356 129 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAGGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 232749072 232749073 232749073 exon -10 0.90625 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAGGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 202 655 0.9804698 0.9961926 0.9883312 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.08131674 0.04166519 0.9964561 0.9268403 NA 0.06149096 NA FALSE NA 1 2.839 . synonymous_variant LOW GIGYF2 HGNC 11960 ENST00000423659 5/18 1 NA AAG A,G 8.236e-06 2:232749073 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 synonymous_variant 0.423146 0.97984 0.8598 0.722319 0.6214964 0 1 TRUE 4.06256e-06 ENSE00002388417_017 ENSE00002388417 017 2 233613655 233613824 + 42 96 32 T G 233613795 5357 141 GAGTTTGCTGGGGCTCAGAGCTAATCACACACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749084 232749085 232749085 downstr_intron 3 1.096774 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTGTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 983 2179 0.9978996 0.9972985 0.997599 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.09874648 0.04277105 0.9964561 0.9268403 NA 0.07075876 NA FALSE NA 0.985 0.139 . splice_region_variant&intron_variant LOW GIGYF2 HGNC 11960 ENST00000423659 5/17 1 NA TTT T,G 8.236e-06 2:232749085 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 splice_region_variant 0.992086 0.95488 0.74759 0.091178 0.7809944 0.391375 1 TRUE 8.12678e-06 ENSE00002388417_018 ENSE00002388417 018 2 233613655 233613824 + 42 96 32 A G 233613800 5358 146 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGGTTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 232749089 232749090 232749090 downstr_intron 8 1.258065 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGGTTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 194 875 1 1 1 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.1008469 0.04547257 0.9964561 0.9268403 NA 0.07315975 NA FALSE NA 0 -1.16 . splice_region_variant&intron_variant LOW GIGYF2 HGNC 11960 ENST00000423659 5/17 1 NA GAT A,G 8.236e-06 2:232749090 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 splice_region_variant -0.057427 0.16441 0.05893 0.091178 0.6177706 0.133912 1 TRUE 4.06379e-06 ENSE00002388417_019 ENSE00002388417 019 2 233613655 233613824 + 42 96 32 T G 233613806 5359 152 GAGTTTGCTGGGGCTCAGCGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749095 232749096 232749096 downstr_intron 14 1.451613 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCGCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 255 242 0.8973576 0.9993459 0.9483517 0.997346 0.9955663 0.8991531 0.9545274 NA NA -0.001795503 0.04481848 0.9964561 0.9268403 NA 0.02151149 NA FALSE NA 0.228 0.796 . intron_variant MODIFIER GIGYF2 HGNC 11960 ENST00000423659 5/17 rs557364792 1 G:0.0004 G:0 G:0 NA G:0 G:0 G:0.002 CTC T,G 1.647e-05 2:232749096 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 intron_variant 0.744611 0.1885 0.16489 0.091178 0.773392 0.121008 1 TRUE 8.1285e-06 ENSE00002388417_020 ENSE00002388417 020 2 233613655 233613824 + 42 96 32 C A 233613807 5360 153 GAGTTTGCTGGGGCTCATAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749096 232749097 232749097 downstr_intron 15 1.483871 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTATGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 156 24 1 1 1 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.1008469 0.04547257 0.9964561 0.9268403 NA 0.07315975 NA FALSE NA 0.228 -0.191 . intron_variant MODIFIER GIGYF2 HGNC 11960 ENST00000423659 5/17 rs374565166 1 NA A:0.0002 A:0 TCT C,A 8.236e-05 2:232749097 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 intron_variant 0.751033 0.19429 0.06392 0.091178 0.6156718 0.121008 1 TRUE 7.72264e-05 ENSE00002388417_021 ENSE00002388417 021 2 233613655 233613824 + 42 96 32 G C 233613809 5361 155 GAGTTTGCTGGGGCTGAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749098 232749099 232749099 downstr_intron 17 1.548387 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTCAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 912 117 0.9990485 0.9980242 0.9985363 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.09989544 0.04349674 0.9964561 0.9268403 NA 0.07169609 NA FALSE NA 0.908 1.471 . intron_variant MODIFIER GIGYF2 HGNC 11960 ENST00000423659 5/17 rs370317126 1 NA C:0 C:0.0001 TGA G,C 5.765e-05 2:232749099 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 intron_variant 0.463576 0.34677 0.71546 0.091178 0.6877025 0.121008 1 TRUE 9.34929e-05 ENSE00002388417_022 ENSE00002388417 022 2 233613655 233613824 + 42 96 32 C A 233613813 5362 159 GAGTTTGCTGGTGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749102 232749103 232749103 downstr_intron 21 1.677419 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCACCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 533 637 0.994811 0.9997516 0.9972813 0.997346 0.9955663 0.8991531 0.9545274 NA NA 0.09565797 0.04522421 0.9964561 0.9268403 NA 0.07044109 NA FALSE NA 0.002 1.233 rs192688643 intron_variant MODIFIER GIGYF2 HGNC 11960 ENST00000423659 5/17 rs192688643 1 A:0.0030 A:0 A:0 NA A:0.0149 A:0 A:0 CCC C,A 0.001507 2:232749103 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 intron_variant 0.960249 0.25533 0.19715 0.091178 0.7541827 0.0870264 1 TRUE 0.00145547 ENSE00002388417_023 ENSE00002388417 023 2 233613655 233613824 + 42 96 32 C G 233613814 5363 160 GAGTTTGCTGCGGCTCAGAGCTAATCACAAACCTGTTCTTCTTCTGTAAAGGGTACCAGAGCCAATGGTGGAAGGGGTTCCTCCTGGAGGATAGGCAGAAATTCTTTATCCAGAAGGTCTGAAGGTATCTGTAGGACCAAACACATGATTATGAGATTAATGCTATTTCT 232748944 232749114 232749103 232749104 232749104 downstr_intron 22 1.709677 AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCGCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC mutant NA NA NA NA NA 421 892 0.8310704 1 0.9155352 0.997346 0.9955663 0.8991531 0.9545274 NA NA -0.06808263 0.04547257 0.9964561 0.9268403 NA -0.01130503 NA FALSE NA 0 -0.785 . intron_variant MODIFIER GIGYF2 HGNC 11960 ENST00000423659 5/17 rs201232635 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0005 CCC C,G 0.000313 2:232749104 GIGYF2 HGNC Symbol protein_coding 163276 ENSG00000204120 ENSE00003621346 intron_variant 0.578356 0.14557 0.01596 0.091178 0.7275309 0.0870264 1 TRUE 0.000296789 ENSE00002388417_BRK ENSE00002388417 BRK 2 233613655 233613824 + 42 96 32 A,G; T,T NA NA NA AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACTTATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGCCTTGTGATTAGCTCTGAGCCCCAGCAAACTC 232748944 232749114 NA NA NA NA NA NA AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACTTATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGCCTTGTGATTAGCTCTGAGCCCCAGCAAACTC AGAAATAGCATTAATCTCATAATCATGTGTTTGGTCCTACAGATACCTTCAGACCTTCTGGATAAAGAATTTCTGCCTATCCTCCAGGAGGAACCCCTTCCACCATTGGCTCTGGTACCCTTTACAGAAGAAGAACAGGTTTGTGATTAGCTCTGAGCCCCAGCAAACTC control 76 133 0.01721903 0.06504776 0.0411334 1407 794 0.01153135 0.0006368796 0.006084115 0.997346 0.9955663 0.8991531 0.9545274 -0.980127 -0.9305185 -0.8876217 -0.9538906 0.9964561 0.9268403 -0.9553227 -0.9207561 0.03456659 TRUE TRUE NA NA NA NA NA GIGYF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GIGYF2 NA NA NA ENSG00000204120 ENSE00003621346 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002388554_000 ENSE00002388554 000 2 111542261 111542430 + 48 84 38 NA NA NA NA NA CATGCATTCATGAAGGGCAGGTGCCCGGCGCCTCTCACCTTCACTCCTGTGGCCATGTCCGCCATGGAGAGGACTTCTCCTATGACAAGGCTTCGGCTGACAAAATTCTTTGTTTTCTCTGCCTGAAAATATGATAGACTCAGTATCAAGGTTTCCTTATGGTTTTCTGA 110784683 110784853 NA NA NA NA NA NA TCAGAAAACCATAAGGAAACCTTGATACTGAGTCTATCATATTTTCAGGCAGAGAAAACAAAGAATTTTGTCAGCCGAAGCCTTGTCATAGGAGAAGTCCTCTCCATGGCGGACATGGCCACAGGAGTGAAGGTGAGAGGCGCCGGGCACCTGCCCTTCATGAATGCATG TCAGAAAACCATAAGGAAACCTTGATACTGAGTCTATCATATTTTCAGGCAGAGAAAACAAAGAATTTTGTCAGCCGAAGCCTTGTCATAGGAGAAGTCCTCTCCATGGCGGACATGGCCACAGGAGTGAAGGTGAGAGGCGCCGGGCACCTGCCCTTCATGAATGCATG natural 192 302 0.85 0.85 0.85 1107 1328 0.9529988 0.9803612 0.96668 0.85 0.85 0.9529988 0.9803612 0 0 0 0 0.85 0.96668 0 0 0 FALSE FALSE NA NA NA NA NA ACOXL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACOXL NA NA NA ENSG00000153093 ENSE00002470533 NA NA NA NA NA NA NA 6.283855e-10 FALSE NA ENSE00002388554_014 ENSE00002388554 014 2 111542261 111542430 + 48 84 38 A C 111542383 2412 123 CATGCATTCATGAAGGGCAGGTGCCCGGCGCCTCTCACCTTCACTCCGGTGGCCATGTCCGCCATGGAGAGGACTTCTCCTATGACAAGGCTTCGGCTGACAAAATTCTTTGTTTTCTCTGCCTGAAAATATGATAGACTCAGTATCAAGGTTTCCTTATGGTTTTCTGA 110784683 110784853 110784805 110784806 110784806 exon -10 0.8928571 TCAGAAAACCATAAGGAAACCTTGATACTGAGTCTATCATATTTTCAGGCAGAGAAAACAAAGAATTTTGTCAGCCGAAGCCTTGTCATAGGAGAAGTCCTCTCCATGGCGGACATGGCCACCGGAGTGAAGGTGAGAGGCGCCGGGCACCTGCCCTTCATGAATGCATG TCAGAAAACCATAAGGAAACCTTGATACTGAGTCTATCATATTTTCAGGCAGAGAAAACAAAGAATTTTGTCAGCCGAAGCCTTGTCATAGGAGAAGTCCTCTCCATGGCGGACATGGCCACAGGAGTGAAGGTGAGAGGCGCCGGGCACCTGCCCTTCATGAATGCATG mutant NA NA NA NA NA 122 899 1 0.9891483 0.9945741 0.85 0.85 0.9529988 0.9803612 NA NA 0.04700116 0.008787067 0.85 0.96668 NA 0.02789412 NA FALSE NA 0.002 -1.981 . synonymous_variant LOW ACOXL HGNC 25621 ENST00000389811 3/19 rs200338206 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0011 CAG A,C 0.0003641 2:110784806 ACOXL HGNC Symbol protein_coding 385649 ENSG00000153093 ENSE00002470533 synonymous_variant -0.28022 0.12201 0.0101 0.706298 0.622519 0 6.283855e-10 FALSE 0.000346151 ENSE00002388554_016 ENSE00002388554 016 2 111542261 111542430 + 48 84 38 T A 111542388 2414 128 CATGCATTCATGAAGGGCAGGTGCCCGGCGCCTCTCACCTTCTCTCCTGTGGCCATGTCCGCCATGGAGAGGACTTCTCCTATGACAAGGCTTCGGCTGACAAAATTCTTTGTTTTCTCTGCCTGAAAATATGATAGACTCAGTATCAAGGTTTCCTTATGGTTTTCTGA 110784683 110784853 110784810 110784811 110784811 exon -5 0.952381 TCAGAAAACCATAAGGAAACCTTGATACTGAGTCTATCATATTTTCAGGCAGAGAAAACAAAGAATTTTGTCAGCCGAAGCCTTGTCATAGGAGAAGTCCTCTCCATGGCGGACATGGCCACAGGAGAGAAGGTGAGAGGCGCCGGGCACCTGCCCTTCATGAATGCATG TCAGAAAACCATAAGGAAACCTTGATACTGAGTCTATCATATTTTCAGGCAGAGAAAACAAAGAATTTTGTCAGCCGAAGCCTTGTCATAGGAGAAGTCCTCTCCATGGCGGACATGGCCACAGGAGTGAAGGTGAGAGGCGCCGGGCACCTGCCCTTCATGAATGCATG mutant NA NA NA NA NA 992 27 0.7082731 0.8 0.7541365 0.85 0.85 0.9529988 0.9803612 NA NA -0.2447258 -0.1803612 0.85 0.96668 NA -0.2125435 NA FALSE NA 0.32 1.578 . missense_variant MODERATE ACOXL HGNC 25621 ENST00000389811 3/19 1 deleterious(0) possibly_damaging(0.888) NA GTG T,A 1.655e-05 2:110784811 ACOXL HGNC Symbol protein_coding 385649 ENSG00000153093 ENSE00002470533 missense_variant 6.354595 0.52089 0.12127 0.706298 0.9819877 0 6.283855e-10 FALSE 1.31642e-05 ENSE00002388554_017 ENSE00002388554 017 2 111542261 111542430 + 48 84 38 C T 111542401 2415 141 CATGCATTCATGAAGGGCAGGTGCCCGGCACCTCTCACCTTCACTCCTGTGGCCATGTCCGCCATGGAGAGGACTTCTCCTATGACAAGGCTTCGGCTGACAAAATTCTTTGTTTTCTCTGCCTGAAAATATGATAGACTCAGTATCAAGGTTTCCTTATGGTTTTCTGA 110784683 110784853 110784823 110784824 110784824 downstr_intron 9 1.243243 TCAGAAAACCATAAGGAAACCTTGATACTGAGTCTATCATATTTTCAGGCAGAGAAAACAAAGAATTTTGTCAGCCGAAGCCTTGTCATAGGAGAAGTCCTCTCCATGGCGGACATGGCCACAGGAGTGAAGGTGAGAGGTGCCGGGCACCTGCCCTTCATGAATGCATG TCAGAAAACCATAAGGAAACCTTGATACTGAGTCTATCATATTTTCAGGCAGAGAAAACAAAGAATTTTGTCAGCCGAAGCCTTGTCATAGGAGAAGTCCTCTCCATGGCGGACATGGCCACAGGAGTGAAGGTGAGAGGCGCCGGGCACCTGCCCTTCATGAATGCATG mutant NA NA NA NA NA 328 114 0.001493478 0.003222828 0.002358153 0.85 0.85 0.9529988 0.9803612 NA NA -0.9515054 -0.9771384 0.85 0.96668 NA -0.9643219 NA TRUE NA 0 -0.509 . intron_variant MODIFIER ACOXL HGNC 25621 ENST00000389811 3/18 1 NA GCG C,T 8.274e-06 2:110784824 ACOXL HGNC Symbol protein_coding 385649 ENSG00000153093 ENSE00002470533 intron_variant 0.382829 0.15444 0.0131 0.074636 0.7303964 0.122171 6.283855e-10 FALSE NA ENSE00002388702_000 ENSE00002388702 000 3 185982986 185983155 - 50 60 60 NA NA NA NA NA TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 NA NA NA NA NA NA TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC natural 32 102 0.85 0.85 0.85 1363 92 0.8131042 0.8031413 0.8081227 0.85 0.85 0.8131042 0.8031413 0 0 0 0 0.85 0.8081227 0 0 0 FALSE FALSE NA NA NA NA NA DGKG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKG NA NA NA ENSG00000058866 ENSE00003636317 NA NA NA NA NA NA NA 5.438214e-06 FALSE NA ENSE00002388702_003 ENSE00002388702 003 3 185982986 185983155 - 50 60 60 G A 185983014 3997 142 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCTGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265224 186265225 186265225 downstr_intron 22 1.44898 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCTGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 546 128 0.8 0.8575654 0.8287827 0.85 0.85 0.8131042 0.8031413 NA NA -0.01310418 0.05442417 0.85 0.8081227 NA 0.02066 NA FALSE NA 0 -2.077 . intron_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/23 1 NA CGG G,A 2.471e-05 3:186265225 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 intron_variant 0.007621 0.15266 0.00695 0.053691 0.6412111 0.0540496 5.438214e-06 FALSE 1.21835e-05 ENSE00002388702_004 ENSE00002388702 004 3 185982986 185983155 - 50 60 60 T G 185983028 3998 128 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCCTGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265238 186265239 186265239 downstr_intron 8 1.163265 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCCTGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 216 655 0.780534 0.8 0.790267 0.85 0.85 0.8131042 0.8031413 NA NA -0.03257021 -0.003141263 0.85 0.8081227 NA -0.01785574 NA FALSE NA 0 -0.937 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW DGKG HGNC 2853 ENST00000480809 13/23 1 NA ATG T,G 8.236e-06 3:186265239 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 splice_region_variant -0.217476 0.08 0.0071 0.053691 0.4810384 0.0540496 5.438214e-06 FALSE 4.06085e-06 ENSE00002388702_007 ENSE00002388702 007 3 185982986 185983155 - 50 60 60 G T 185983047 4001 109 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAAATTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265257 186265258 186265258 exon -12 0.8166667 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAAATTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 1321 282 0.6839148 0.7929387 0.7384268 0.85 0.85 0.8131042 0.8031413 NA NA -0.1291894 -0.01020253 0.85 0.8081227 NA -0.06969594 NA FALSE NA 0.953 0.518 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:186265258 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 missense_variant 1.685747 0.96062 0.48736 0.497415 0.9512862 0 5.438214e-06 FALSE 9.3398e-05 ENSE00002388702_008 ENSE00002388702 008 3 185982986 185983155 - 50 60 60 G A 185983047 4002 109 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAATTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265257 186265258 186265258 exon -12 0.8166667 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAATTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 1970 54 0.7544713 0.8046609 0.7795661 0.85 0.85 0.8131042 0.8031413 NA NA -0.05863289 0.001519637 0.85 0.8081227 NA -0.02855663 NA FALSE NA 0.953 0.518 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKG NA NA NA ENSG00000058866 ENSE00003636317 missense_variant 1.601823 0.9626 0.56093 0.497415 0.9910058 0 5.438214e-06 FALSE 8.12156e-06 ENSE00002388702_010 ENSE00002388702 010 3 185982986 185983155 - 50 60 60 G T 185983051 4004 105 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGAGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265261 186265262 186265262 exon -16 0.75 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGAGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 642 125 0.9925716 0.9663876 0.9794796 0.85 0.85 0.8131042 0.8031413 NA NA 0.1794674 0.1632463 0.85 0.8081227 NA 0.1713568 NA FALSE NA 0.192 -1.314 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:186265262 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 synonymous_variant 0.492205 0.75132 0.03666 0.497415 0.7199201 0 5.438214e-06 FALSE 6.90372e-05 ENSE00002388702_011 ENSE00002388702 011 3 185982986 185983155 - 50 60 60 G A 185983051 4005 105 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGTGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265261 186265262 186265262 exon -16 0.75 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGTGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 13 721 0.8 0.9170656 0.8585328 0.85 0.85 0.8131042 0.8031413 NA NA -0.01310418 0.1139244 0.85 0.8081227 NA 0.05041009 NA FALSE NA 0.192 -1.314 NA NA NA DGKG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKG NA NA NA ENSG00000058866 ENSE00003636317 synonymous_variant 0.915146 0.73027 0.01644 0.497415 0.7509283 0 5.438214e-06 FALSE 1.62441e-05 ENSE00002388702_014 ENSE00002388702 014 3 185982986 185983155 - 50 60 60 G A 185983060 4008 96 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCTGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265270 186265271 186265271 exon -25 0.6 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCTGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 502 177 0.9460983 0.8 0.8730491 0.85 0.85 0.8131042 0.8031413 NA NA 0.1329941 -0.003141263 0.85 0.8081227 NA 0.06492642 NA FALSE NA 0 -2.155 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/24 1 NA CGG G,A 8.236e-06 3:186265271 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 synonymous_variant 0.706421 0.24636 0.01029 0.497415 0.4496082 0 5.438214e-06 FALSE 2.43661e-05 ENSE00002388702_015 ENSE00002388702 015 3 185982986 185983155 - 50 60 60 C T 185983065 4009 91 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCATGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265275 186265276 186265276 exon -30 0.5166667 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCATGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 356 191 0.02629728 0 0.01314864 0.85 0.85 0.8131042 0.8031413 NA NA -0.7868069 -0.8031413 0.85 0.8081227 NA -0.7949741 NA TRUE NA 0 -1.688 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/24 COSM1042275 1 NA ACG C,T 8.236e-06 3:186265276 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 missense_variant 0.633764 0.1368 0.01076 0.497415 0.7419011 0 5.438214e-06 FALSE 8.1217e-06 ENSE00002388702_016 ENSE00002388702 016 3 185982986 185983155 - 50 60 60 G A 185983066 4010 90 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGTGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265276 186265277 186265277 exon 30 0.5 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGTGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 392 411 0.4675589 0.4433075 0.4554332 0.85 0.85 0.8131042 0.8031413 NA NA -0.3455453 -0.3598337 0.85 0.8081227 NA -0.3526895 NA FALSE NA 0 -1.817 rs144383780 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/24 rs144383780 1 NA A:0.0002 A:0 CGC G,A 8.236e-06 3:186265277 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 synonymous_variant 0.508273 0.1423 0.00848 0.497415 0.2893842 0 5.438214e-06 FALSE 1.2183e-05 ENSE00002388702_017 ENSE00002388702 017 3 185982986 185983155 - 50 60 60 C A 185983070 4011 86 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGTCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265280 186265281 186265281 exon 26 0.4333333 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGTCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 140 1505 0.9353737 0.9048797 0.9201267 0.85 0.85 0.8131042 0.8031413 NA NA 0.1222695 0.1017385 0.85 0.8081227 NA 0.112004 NA FALSE NA 0.188 1.712 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/24 1 NA GCC C,A 8.236e-06 3:186265281 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 missense_variant 1.976261 0.67869 0.21483 0.497415 0.9168952 0 5.438214e-06 FALSE 4.06101e-06 ENSE00002388702_019 ENSE00002388702 019 3 185982986 185983155 - 50 60 60 A G 185983077 4013 79 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGCCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265287 186265288 186265288 exon 19 0.3166667 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGCCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 10 525 0 0.03281509 0.01640755 0.85 0.85 0.8131042 0.8031413 NA NA -0.8131042 -0.7703262 0.85 0.8081227 NA -0.7917152 NA TRUE NA 0.725 0.488 rs191031483 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/24 rs191031483 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 GAC A,G 1.647e-05 3:186265288 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 missense_variant 1.125899 0.57226 0.20595 0.497415 0.9390313 0 5.438214e-06 FALSE 2.43661e-05 ENSE00002388702_020 ENSE00002388702 020 3 185982986 185983155 - 50 60 60 C T 185983078 4014 78 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAATCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265288 186265289 186265289 exon 18 0.3 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAATCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 623 1164 0.000785713 0.02760172 0.01419372 0.85 0.85 0.8131042 0.8031413 NA NA -0.8123185 -0.7755395 0.85 0.8081227 NA -0.793929 NA TRUE NA 0.729 0.221 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/24 1 NA ACT C,T 8.236e-06 3:186265289 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 synonymous_variant 1.041354 0.58633 0.22857 0.497415 0.3603453 0 5.438214e-06 FALSE 8.12229e-06 ENSE00002388702_022 ENSE00002388702 022 3 185982986 185983155 - 50 60 60 G A 185983089 4016 67 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGTCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265299 186265300 186265300 exon 7 0.1166667 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGTCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 1763 98 0.05567774 0 0.02783887 0.85 0.85 0.8131042 0.8031413 NA NA -0.7574264 -0.8031413 0.85 0.8081227 NA -0.7802839 NA TRUE NA 1 3.817 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/24 rs571760504 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGC G,A 8.236e-06 3:186265300 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 missense_variant 1.246074 0.97717 0.86071 0.497415 0.3738947 0 5.438214e-06 FALSE 4.06138e-06 ENSE00002388702_023 ENSE00002388702 023 3 185982986 185983155 - 50 60 60 C T 185983091 4017 65 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAAGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265301 186265302 186265302 exon 5 0.08333333 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAAGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 49 147 0.9032546 0.8 0.8516273 0.85 0.85 0.8131042 0.8031413 NA NA 0.09015039 -0.003141263 0.85 0.8081227 NA 0.04350457 NA FALSE NA 0.999 0.224 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 13/24 COSM1537206 1 NA CCT C,T 1.647e-05 3:186265302 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 missense_variant 2.293038 0.95299 0.43574 0.497415 0.9408251 0 5.438214e-06 FALSE 1.62459e-05 ENSE00002388702_024 ENSE00002388702 024 3 185982986 185983155 - 50 60 60 G A 185983093 4018 63 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGATAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265303 186265304 186265304 exon 3 0.05 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGATAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 547 550 0 0.01493945 0.007469725 0.85 0.85 0.8131042 0.8031413 NA NA -0.8131042 -0.7882018 0.85 0.8081227 NA -0.800653 NA TRUE NA 1 2.398 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW DGKG HGNC 2853 ENST00000480809 13/24 1 NA TGT G,A 2.471e-05 3:186265304 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 splice_region_variant 1.073549 0.96559 0.76532 0.497415 0.713882 0 5.438214e-06 FALSE 2.43696e-05 ENSE00002388702_025 ENSE00002388702 025 3 185982986 185983155 - 50 60 60 A G 185983104 4019 52 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCCTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265314 186265315 186265315 upstr_intron -9 -0.1333333 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCCTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 638 521 0.1238023 0 0.06190114 0.85 0.85 0.8131042 0.8031413 NA NA -0.6893019 -0.8031413 0.85 0.8081227 NA -0.7462216 NA TRUE NA 0.699 1.01 . intron_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 12/23 1 NA AAG A,G 8.236e-06 3:186265315 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 intron_variant 2.34435 0.90561 0.45248 0.053691 0.828644 0.935182 5.438214e-06 FALSE 8.12552e-06 ENSE00002388702_027 ENSE00002388702 027 3 185982986 185983155 - 50 60 60 A G 185983107 4021 49 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTCTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265317 186265318 186265318 upstr_intron -12 -0.1833333 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTCTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 109 186 0.8 0.8171533 0.8085766 0.85 0.85 0.8131042 0.8031413 NA NA -0.01310418 0.014012 0.85 0.8081227 NA 0.000453908 NA FALSE NA 0.998 1.457 . intron_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 12/23 rs371158914 1 NA G:0 G:0.0001 AAA A,G 8.236e-06 3:186265318 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 intron_variant 2.080896 0.71559 0.01808 0.053691 0.7970556 0.261684 5.438214e-06 FALSE 8.12592e-06 ENSE00002388702_030 ENSE00002388702 030 3 185982986 185983155 - 50 60 60 G A 185983119 4024 37 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGTTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265329 186265330 186265330 upstr_intron -24 -0.3833333 TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGTTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 282 51 0.9557653 0.9749587 0.965362 0.85 0.85 0.8131042 0.8031413 NA NA 0.1426611 0.1718174 0.85 0.8081227 NA 0.1572393 NA FALSE NA 0.009 0.084 NA NA NA DGKG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:186265330 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 intron_variant 2.110194 0.14707 0.01433 0.053691 0.8635018 0.12838 5.438214e-06 FALSE 4.0706e-06 ENSE00002388702_031 ENSE00002388702 031 3 185982986 185983155 - 50 60 60 A G 185983130 4025 26 TCTTTCTTTGTGTTAGGCTTCTTTTCCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265340 186265341 186265341 upstr_intron -35 -0.5666667 TCTTTCTTTGTGTTAGGCTTCTTTTCCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 1415 1285 0.7370798 0.7433185 0.7401991 0.85 0.85 0.8131042 0.8031413 NA NA -0.07602443 -0.05982276 0.85 0.8081227 NA -0.06792359 NA FALSE NA 0.004 1.39 . intron_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 12/23 rs374515106 1 NA G:0.0002 G:0.0019 GAA A,G 0.00126 3:186265341 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 intron_variant 0.105851 0.15774 0.04928 0.053691 0.5801689 0.0540496 5.438214e-06 FALSE 0.00140721 ENSE00002388702_032 ENSE00002388702 032 3 185982986 185983155 - 50 60 60 A G 185983137 4026 19 TCTTTCTTTGTGTTAGGCCTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC 186265196 186265366 186265347 186265348 186265348 upstr_intron -42 -0.6833333 TCTTTCTTTGTGTTAGGCCTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC TCTTTCTTTGTGTTAGGCTTCTTTTTCCAAAAGATGCTTGTCTTTCCTTTCTTGTCACAGGACAGGCCAGGTGAGAAGTCTGATGGCTGCGTGTCCGCCAAGGGCGAACTTGTCATGCAGGTACCTCATGAGCTCTAAATCCGATTGCACCTTCTAAGTTGTTCCAGGGC mutant NA NA NA NA NA 213 424 0.8213831 0.6763142 0.7488487 0.85 0.85 0.8131042 0.8031413 NA NA 0.008278947 -0.126827 0.85 0.8081227 NA -0.05927404 NA FALSE NA 0 -0.465 . intron_variant&non_coding_transcript_variant MODIFIER DGKG HGNC 2853 ENST00000480809 12/23 1 NA AAG A,G 8.238e-06 3:186265348 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003636317 intron_variant 0.117131 0.13328 0.02828 0.053691 0.562266 0.0540496 5.438214e-06 FALSE 4.12473e-06 ENSE00002389183_000 ENSE00002389183 000 1 206943127 206943296 - 47 66 57 NA NA NA NA NA GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 NA NA NA NA NA NA GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC natural 57 52 0.9931077 0.9866581 0.9898829 1698 1693 0.9023987 0.9902728 0.9463357 0.9931077 0.9866581 0.9023987 0.9902728 0 0 0 0 0.9898829 0.9463357 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003498683 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002389183_006 ENSE00002389183 006 1 206943127 206943296 - 47 66 57 G T 206943184 4895 113 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGTCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769838 206769839 206769839 exon -11 0.8484848 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGACTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 1202 578 0.9986224 0.9999341 0.9992783 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09622366 0.009661366 0.9898829 0.9463357 NA 0.05294251 NA FALSE NA 0.001 1.653 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003498683 missense_variant 0.726832 0.36955 0.06706 0.446893 0.8677148 0 8.657011e-06 FALSE 8.12539e-06 ENSE00002389183_008 ENSE00002389183 008 1 206943127 206943296 - 47 66 57 G A 206943204 4897 93 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGGCATTCTTCACCTGCTCCACAGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769858 206769859 206769859 exon -31 0.5454545 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCTGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 52 144 0.9821015 0.9171289 0.9496152 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.07970275 -0.07314384 0.9898829 0.9463357 NA 0.003279455 NA FALSE NA 0 -9.055 NA NA NA IL10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL10 NA NA NA ENSG00000136634 ENSE00003498683 synonymous_variant 1.144819 0.17321 0.00972 0.446893 0.7774267 0 0.02916223 FALSE 2.03123e-05 ENSE00002389183_BRK ENSE00002389183 BRK 1 206943127 206943296 - 47 66 57 A,G; T,T NA NA NA GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCGGCTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGAAGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 NA NA NA NA NA NA GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACTTCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGCCGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC control NA NA NA NA NA 265 562 0.001849217 0 0.0009246086 0.9931077 0.9866581 0.9023987 0.9902728 NA NA -0.9005495 -0.9902728 0.9898829 0.9463357 NA -0.9454111 NA TRUE NA NA NA NA NA NA IL10 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA IL10 NA NA NA ENSG00000136634 ENSE00003498683 NA NA NA NA NA NA NA 0.02916223 FALSE NA ENSE00002389259_000 ENSE00002389259 000 6 34956957 34957126 + 44 93 33 NA NA NA NA NA TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATCGGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 NA NA NA NA NA NA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA natural NA NA NA NA NA 1555 372 0.9603013 0.9740558 0.9671786 NA NA 0.9603013 0.9740558 NA NA 0 0 NA 0.9671786 NA 0 NA FALSE NA NA NA NA NA NA ANKS1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKS1A NA NA NA ENSG00000064999 ENSE00002533567 NA NA NA NA NA NA NA 0.8468597 FALSE NA ENSE00002389259_004 ENSE00002389259 004 6 34956957 34957126 + 44 93 33 T C 34956981 1027 25 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATCGGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAATGAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989203 34989204 34989204 upstr_intron -20 -0.4318182 TTAAAAAAGAGATCGCAAAATATTCATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 239 169 0.9993092 1 0.9996546 NA NA 0.9603013 0.9740558 NA NA 0.03900785 0.02594417 NA 0.9671786 NA 0.03247601 NA FALSE NA 0.011 0.488 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA TTA T,C 8.236e-06 6:34989204 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 intron_variant -0.119213 0.19836 0.03553 0.106106 0.5716139 0.153832 0.8468597 FALSE 8.28528e-06 ENSE00002389259_005 ENSE00002389259 005 6 34956957 34957126 + 44 93 33 T C 34956983 1028 27 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATCGGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAGTAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989205 34989206 34989206 upstr_intron -18 -0.3863636 TTAAAAAAGAGATCGCAAAATATTTACTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 75 30 1 1 1 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02594417 NA 0.9671786 NA 0.03282141 NA FALSE NA 0 -0.518 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA ATT T,C 8.236e-06 6:34989206 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 intron_variant 0.971982 0.23614 0.00406 0.106106 0.7566296 0.289887 0.8468597 FALSE NA ENSE00002389259_006 ENSE00002389259 006 6 34956957 34957126 + 44 93 33 C G 34956990 1029 34 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATCGGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGACAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989212 34989213 34989213 upstr_intron -11 -0.2272727 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTGTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 59 268 1 1 1 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02594417 NA 0.9671786 NA 0.03282141 NA FALSE NA 0 -0.595 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 rs375303057 1 NA G:0 G:0.0001 TCT C,G 8.236e-06 6:34989213 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 intron_variant 1.818929 0.19207 0.07016 0.106106 0.7688773 0.289973 0.8468597 FALSE 4.12633e-06 ENSE00002389259_007 ENSE00002389259 007 6 34956957 34957126 + 44 93 33 C T 34957007 1030 51 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATCGGGCGGTGGCTTTGCTGGAGGTGGTGGACATTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989229 34989230 34989230 exon 7 0.07526882 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAATGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 29 62 1 1 1 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02594417 NA 0.9671786 NA 0.03282141 NA FALSE NA 1 5.204 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA ACG C,T 8.236e-06 6:34989230 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 missense_variant 5.315634 0.98908 0.97229 0.732398 0.9982813 0 0.8468597 FALSE 4.06921e-06 ENSE00002389259_008 ENSE00002389259 008 6 34956957 34957126 + 44 93 33 G A 34957008 1031 52 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATCGGGCGGTGGCTTTGCTGGAGGTGGTGGATGTTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989230 34989231 34989231 exon 8 0.08602151 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACATCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 511 319 0.997723 1 0.9988615 NA NA 0.9603013 0.9740558 NA NA 0.0374216 0.02594417 NA 0.9671786 NA 0.03168289 NA FALSE NA 1 6.548 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA CGT G,A 4.118e-05 6:34989231 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 missense_variant 6.231818 0.9893 0.98009 0.732398 0.9995054 0 0.8468597 FALSE 3.25158e-05 ENSE00002389259_012 ENSE00002389259 012 6 34956957 34957126 + 44 93 33 G A 34957033 1035 77 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATCGGGTGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989255 34989256 34989256 exon 33 0.3548387 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCACCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 84 272 1 0.9991561 0.999578 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02510024 NA 0.9671786 NA 0.03239944 NA FALSE NA 0.002 -2.138 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 COSM742250 1 NA CGC G,A 2.471e-05 6:34989256 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 synonymous_variant 1.631162 0.35185 0.01786 0.732398 0.6524431 0 0.8468597 FALSE 2.03072e-05 ENSE00002389259_013 ENSE00002389259 013 6 34956957 34957126 + 44 93 33 C T 34957036 1036 80 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATCAGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989258 34989259 34989259 exon 36 0.3870968 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCTGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 783 197 1 1 1 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02594417 NA 0.9671786 NA 0.03282141 NA FALSE NA 0 -8.138 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 rs367861541 1 NA T:0 T:0.0002 CCG C,T 3.295e-05 6:34989259 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 synonymous_variant 1.966028 0.04107 0.00259 0.732398 0.6501006 0 0.8468597 FALSE 2.84301e-05 ENSE00002389259_014 ENSE00002389259 014 6 34956957 34957126 + 44 93 33 G A 34957037 1037 81 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCATTGGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989259 34989260 34989260 exon 37 0.3978495 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCAATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 1158 268 1 0.9994094 0.9997047 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02535359 NA 0.9671786 NA 0.03252612 NA FALSE NA 1 6.548 rs149219498 intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 rs149219498 1 A:0.0028 A:0 A:0 NA A:0.001 A:0 A:0.0133 A:0 A:0.0005 CGA G,A 0.001845 6:34989260 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 missense_variant 3.959749 0.98223 0.97745 0.732398 0.9986695 0 0.8468597 FALSE 0.00163669 ENSE00002389259_015 ENSE00002389259 015 6 34956957 34957126 + 44 93 33 A C 34957038 1038 82 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCTTCAGCGGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989260 34989261 34989261 exon 38 0.4086022 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGCTGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 52 49 1 1 1 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02594417 NA 0.9671786 NA 0.03282141 NA FALSE NA 1 6.205 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA GAT A,C 1.647e-05 6:34989261 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 missense_variant 2.351868 0.97826 0.98046 0.732398 0.9859111 0 0.8468597 FALSE 8.12222e-06 ENSE00002389259_016 ENSE00002389259 016 6 34956957 34957126 + 44 93 33 A G 34957042 1039 86 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTGGTCTTCTTCCTCCTCATCGGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989264 34989265 34989265 exon 42 0.4516129 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAGGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 132 86 1 1 1 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02594417 NA 0.9671786 NA 0.03282141 NA FALSE NA 1 0.752 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA AAG A,G 8.236e-06 6:34989265 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 synonymous_variant 0.883073 0.95818 0.65966 0.732398 0.5914042 0 0.8468597 FALSE 4.06121e-06 ENSE00002389259_018 ENSE00002389259 018 6 34956957 34957126 + 44 93 33 C T 34957055 1041 99 TCAGCAATGGGGAATAAACCCACAACCCTCTACCTCAGAAGCTGTCAAGGGAAAATACTTCTTATCTATGTAGTCTTCTTCCTCTTCATCGGGCGGTGGCTTTGCTGGAGGTGGTGGACGTTCCCTCTGCAGAAGAGAAAAAAATAAATATTTTGCGATCTCTTTTTTAA 34989179 34989349 34989277 34989278 34989278 exon -39 0.5913978 TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACTACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA TTAAAAAAGAGATCGCAAAATATTTATTTTTTTCTCTTCTGCAGAGGGAACGTCCACCACCTCCAGCAAAGCCACCGCCCGATGAAGAGGAAGAAGACCACATAGATAAGAAGTATTTTCCCTTGACAGCTTCTGAGGTAGAGGGTTGTGGGTTTATTCCCCATTGCTGA mutant NA NA NA NA NA 114 230 1 1 1 NA NA 0.9603013 0.9740558 NA NA 0.03969865 0.02594417 NA 0.9671786 NA 0.03282141 NA FALSE NA 0.001 1.295 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA CCA C,T 4.118e-05 6:34989278 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00002533567 missense_variant 2.274979 0.22034 0.15613 0.732398 0.9778911 0 0.8468597 FALSE 3.24907e-05 ENSE00002389463_000 ENSE00002389463 000 5 93997940 93998109 + 63 54 53 NA NA NA NA NA GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT 94662234 94662404 NA NA NA NA NA NA GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT natural 190 270 0.85 0.8336124 0.8418062 837 2254 0.8747003 0.9428133 0.9087568 0.85 0.8336124 0.8747003 0.9428133 0 0 0 0 0.8418062 0.9087568 0 0 0 FALSE FALSE NA NA NA NA NA ANKRD32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLF1 NA NA NA ENSG00000133302 ENSE00003461409 NA NA NA NA NA NA NA NA NA NA ENSE00002389463_001 ENSE00002389463 001 5 93997940 93998109 + 63 54 53 A G 93997953 806 14 GAAGCTGAAATGTGTTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT 94662234 94662404 94662247 94662248 94662248 upstr_intron -50 -0.7777778 GAAGCTGAAATGTGTTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT mutant NA NA NA NA NA 58 804 0.95 0.9468706 0.9484353 0.85 0.8336124 0.8747003 0.9428133 NA NA 0.0752997 0.004057312 0.8418062 0.9087568 NA 0.03967851 NA FALSE NA 0.013 0.456 . intron_variant MODIFIER ANKRD32 HGNC 25408 ENST00000265140 9/20 1 NA TAT A,G 8.344e-05 5:94662248 SLF1 HGNC Symbol protein_coding 121089 ENSG00000133302 ENSE00003461409 intron_variant 0.492725 0.18466 0.06274 0.106106 0.7967971 0.0870264 NA NA 1.43458e-05 ENSE00002389463_004 ENSE00002389463 004 5 93997940 93998109 + 63 54 53 A G 93998024 809 85 GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTGGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT 94662234 94662404 94662318 94662319 94662319 exon 22 0.4074074 GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTGGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT mutant NA NA NA NA NA 191 517 1 0.9266168 0.9633084 0.85 0.8336124 0.8747003 0.9428133 NA NA 0.1252997 -0.01619651 0.8418062 0.9087568 NA 0.0545516 NA FALSE NA 0.745 0.831 . missense_variant MODERATE ANKRD32 HGNC 25408 ENST00000265140 10/21 rs376945797 1 tolerated(0.14) benign(0.001) NA G:0 G:0.0003 TAG A,G 4.138e-05 5:94662319 SLF1 HGNC Symbol protein_coding 121089 ENSG00000133302 ENSE00003461409 missense_variant 3.312958 0.89233 0.21304 0.615465 0.9934158 0 NA NA 1.99066e-05 ENSE00002389463_BRK ENSE00002389463 BRK 5 93997940 93998109 + 63 54 53 A,G; T,T NA NA NA GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTTTGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGCCAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT 94662234 94662404 NA NA NA NA NA NA GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTTTGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGCCAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT GAAGCTGAAATGTATTTTTCAATCTTAAAATGTTGTTTTAATTATATGGTTGCTCTTTTGTAGGCTGTCAGATACAACTGCATTAGAATAGATAAACAACCAGTGTACAACGTAGAGGTAAGGGGCTTGGAGCAGCATTGGTGATGGGGGCAAAGAAGAAGTTTTGTGTT control NA NA NA NA NA 284 85 0 0 0 0.85 0.8336124 0.8747003 0.9428133 NA NA -0.8747003 -0.9428133 0.8418062 0.9087568 NA -0.9087568 NA TRUE NA NA NA NA NA NA ANKRD32 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLF1 NA NA NA ENSG00000133302 ENSE00003461409 NA NA NA NA NA NA NA NA NA NA ENSE00002389682_000 ENSE00002389682 000 17 29324215 29324384 + 45 90 35 NA NA NA NA NA CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 NA NA NA NA NA NA CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC natural NA NA NA NA NA 147 456 1 0.9956699 0.997835 NA NA 1 0.9956699 NA NA 0 0 NA 0.997835 NA 0 NA FALSE NA NA NA NA NA NA RNF135 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF135 NA NA NA ENSG00000181481 ENSE00003664452 NA NA NA NA NA NA NA 0.003075166 FALSE NA ENSE00002389682_002 ENSE00002389682 002 17 29324215 29324384 + 45 90 35 G A 29324251 1332 37 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTATTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997232 30997233 30997233 upstr_intron -9 -0.1777778 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTATTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 389 17 0.9993635 1 0.9996818 NA NA 1 0.9956699 NA NA -0.0006364915 0.004330088 NA 0.997835 NA 0.001846798 NA FALSE NA 0 -1.508 . intron_variant MODIFIER RNF135 HGNC 21158 ENST00000434242 2/3 1 NA TGT G,A 8.236e-06 17:30997233 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 intron_variant -0.110583 0.11785 0.01047 0.156188 0.2334512 0.0373712 0.003075166 FALSE 4.06207e-06 ENSE00002389682_003 ENSE00002389682 003 17 29324215 29324384 + 45 90 35 T A 29324256 1333 42 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACATAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997237 30997238 30997238 upstr_intron -4 -0.06666667 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACATAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 232 25 0.9899403 1 0.9949702 NA NA 1 0.9956699 NA NA -0.01005967 0.004330088 NA 0.997835 NA -0.002864791 NA FALSE NA 0.464 0.067 . splice_region_variant&intron_variant LOW RNF135 HGNC 21158 ENST00000434242 2/3 1 NA CTT T,A 8.236e-06 17:30997238 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 splice_region_variant 0.09551 0.17191 0.11436 0.156188 0.3793475 0.0373712 0.003075166 FALSE 4.06151e-06 ENSE00002389682_005 ENSE00002389682 005 17 29324215 29324384 + 45 90 35 T A 29324269 1335 55 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCAGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997250 30997251 30997251 exon 10 0.1111111 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCAGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 817 1875 0.9979163 0.9999797 0.998948 NA NA 1 0.9956699 NA NA -0.00208372 0.004309789 NA 0.997835 NA 0.001113034 NA FALSE NA 0 -2.408 . missense_variant MODERATE RNF135 HGNC 21158 ENST00000434242 3/4 1 tolerated_low_confidence(1) unknown(0) NA CTG T,A 1.647e-05 17:30997251 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 missense_variant -0.794808 0.12412 0.0189 0.706548 0.415696 0 0.003075166 FALSE 8.12222e-06 ENSE00002389682_007 ENSE00002389682 007 17 29324215 29324384 + 45 90 35 T C 29324280 1337 66 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGCCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997261 30997262 30997262 exon 21 0.2333333 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGCCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 615 833 1 0.9973998 0.9986999 NA NA 1 0.9956699 NA NA 0 0.001729904 NA 0.997835 NA 0.0008649518 NA FALSE NA 0.007 0.09 . synonymous_variant LOW RNF135 HGNC 21158 ENST00000434242 3/4 1 NA GTC T,C 2.471e-05 17:30997262 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 missense_variant 1.19377 0.30393 0.06587 0.706548 0.9376454 0 0.003075166 FALSE 1.21828e-05 ENSE00002389682_009 ENSE00002389682 009 17 29324215 29324384 + 45 90 35 C T 29324307 1339 93 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACTAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997288 30997289 30997289 exon -43 0.5333333 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACTAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 129 2742 0.9791639 0.9541125 0.9666382 NA NA 1 0.9956699 NA NA -0.0208361 -0.04155737 NA 0.997835 NA -0.03119673 NA FALSE NA 0.141 1.765 rs121918161 synonymous_variant LOW RNF135 HGNC 21158 ENST00000434242 3/4 rs121918161&CM073306 1 NA CCA C,T 8.236e-06 17:30997289 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 stop_gained 10.74428 0.92073 0.44768 0.706548 0.997222 0 0.003075166 FALSE 1.21838e-05 ENSE00002389682_010 ENSE00002389682 010 17 29324215 29324384 + 45 90 35 G A 29324331 1340 117 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAACTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997312 30997313 30997313 exon -19 0.8 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAACTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 169 477 1 1 1 NA NA 1 0.9956699 NA NA 0 0.004330088 NA 0.997835 NA 0.002165044 NA FALSE NA 0 -0.715 . synonymous_variant LOW RNF135 HGNC 21158 ENST00000434242 3/4 1 NA AGC G,A 8.236e-06 17:30997313 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 missense_variant 0.571576 0.23573 0.0813 0.706548 0.5780793 0 0.003075166 FALSE 4.06124e-06 ENSE00002389682_011 ENSE00002389682 011 17 29324215 29324384 + 45 90 35 C T 29324337 1341 123 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTTGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997318 30997319 30997319 exon -13 0.8666667 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTTGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 880 409 1 0.9951735 0.9975868 NA NA 1 0.9956699 NA NA 0 -0.0004964017 NA 0.997835 NA -0.0002482008 NA FALSE NA 0.006 0.631 . synonymous_variant LOW RNF135 HGNC 21158 ENST00000434242 3/4 1 NA TCG C,T 8.236e-06 17:30997319 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 missense_variant 3.736274 0.33293 0.12225 0.706548 0.9975042 0 0.003075166 FALSE 8.12222e-06 ENSE00002389682_012 ENSE00002389682 012 17 29324215 29324384 + 45 90 35 G A 29324338 1342 124 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCAGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997319 30997320 30997320 exon -12 0.8777778 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCAGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 188 82 1 1 1 NA NA 1 0.9956699 NA NA 0 0.004330088 NA 0.997835 NA 0.002165044 NA FALSE NA 0.003 -1.088 . missense_variant MODERATE RNF135 HGNC 21158 ENST00000434242 3/4 1 tolerated_low_confidence(0.76) unknown(0) NA CGG G,A 8.236e-06 17:30997320 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 missense_variant -1.320114 0.11845 0.01828 0.706548 0.4238154 0 0.003075166 FALSE 2.43671e-05 ENSE00002389682_013 ENSE00002389682 013 17 29324215 29324384 + 45 90 35 G T 29324339 1343 125 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGTTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997320 30997321 30997321 exon -11 0.8888889 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGTTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 276 606 1 0.9990524 0.9995262 NA NA 1 0.9956699 NA NA 0 0.003382489 NA 0.997835 NA 0.001691245 NA FALSE NA 0.927 1.191 . missense_variant MODERATE RNF135 HGNC 21158 ENST00000434242 3/4 1 tolerated_low_confidence(0.1) unknown(0) NA GGT G,T 8.236e-06 17:30997321 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 missense_variant 0.064899 0.19416 0.49286 0.706548 0.5058094 0 0.003075166 FALSE 4.06118e-06 ENSE00002389682_014 ENSE00002389682 014 17 29324215 29324384 + 45 90 35 T C 29324355 1344 141 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGCATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997336 30997337 30997337 downstr_intron 6 1.176471 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGCATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant 22 61 0.85 0.85 0.85 NA NA NA NA NA NA NA 1 0.9956699 NA NA NA NA NA 0.997835 NA NA NA NA NA 1 3.334 . splice_region_variant&intron_variant LOW RNF135 HGNC 21158 ENST00000434242 3/3 rs199859937 1 NA C:0 C:0.0001 GTA T,C 0.0002965 17:30997337 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 splice_region_variant 1.334072 0.92626 0.89016 0.062308 0.8578261 0.954315 0.003075166 FALSE 0.000142138 ENSE00002389682_016 ENSE00002389682 016 17 29324215 29324384 + 45 90 35 T C 29324357 1346 143 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTACGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997338 30997339 30997339 downstr_intron 8 1.235294 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTACGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 1305 740 0.9986998 0.9992248 0.9989623 NA NA 1 0.9956699 NA NA -0.001300165 0.003554916 NA 0.997835 NA 0.001127376 NA FALSE NA 0.209 0.128 . splice_region_variant&intron_variant LOW RNF135 HGNC 21158 ENST00000434242 3/3 1 NA ATG T,C 4.942e-05 17:30997339 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 splice_region_variant 0.335177 0.19648 0.13248 0.062308 0.5062401 0.251968 0.003075166 FALSE 3.65503e-05 ENSE00002389682_017 ENSE00002389682 017 17 29324215 29324384 + 45 90 35 G A 29324358 1347 144 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATATGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 30997339 30997340 30997340 downstr_intron 9 1.264706 CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATATGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC mutant NA NA NA NA NA 141 69 0.9834336 1 0.9917168 NA NA 1 0.9956699 NA NA -0.01656643 0.004330088 NA 0.997835 NA -0.006118172 NA FALSE NA 0.007 -0.193 . intron_variant MODIFIER RNF135 HGNC 21158 ENST00000434242 3/3 1 NA TGT G,A 8.236e-06 17:30997340 RNF135 HGNC Symbol protein_coding 31126 ENSG00000181481 ENSE00003664452 intron_variant 0.724592 0.16994 0.07002 0.062308 0.636804 0.250384 0.003075166 FALSE 4.06114e-06 ENSE00002389682_BRK ENSE00002389682 BRK 17 29324215 29324384 + 45 90 35 A,G; T,T NA NA NA CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTTTGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTCCAAGTATGTGGTCCACTTTAAACATGGGTTTGGC 30997196 30997366 NA NA NA NA NA NA CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTTTGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTCCAAGTATGTGGTCCACTTTAAACATGGGTTTGGC CTTTTTCTGATGGGACTTTCCTCTGTTAATTTTTTTGTTACTTAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGTAAGTATGTGGTCCACTTTAAACATGGGTTTGGC control NA NA NA NA NA 509 444 0.02662652 0 0.01331326 NA NA 1 0.9956699 NA NA -0.9733735 -0.9956699 NA 0.997835 NA -0.9845217 NA TRUE NA NA NA NA NA NA RNF135 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RNF135 NA NA NA ENSG00000181481 ENSE00003664452 NA NA NA NA NA NA NA 0.003075166 FALSE NA ENSE00002389788_000 ENSE00002389788 000 2 232576004 232576173 + 54 72 44 NA NA NA NA NA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 NA NA NA NA NA NA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA natural 77 89 0.9994392 0.9915489 0.9954941 936 441 0.9185603 0.9777035 0.9481319 0.9994392 0.9915489 0.9185603 0.9777035 0 0 0 0 0.9954941 0.9481319 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTMA NA NA NA ENSG00000187514 ENSE00003475971 NA NA NA NA NA NA NA 0.3774919 FALSE NA ENSE00002389788_002 ENSE00002389788 002 2 232576004 232576173 + 54 72 44 T C 232576015 5275 12 CCCTGGGTTGCCCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711304 231711305 231711305 upstr_intron -43 -0.7777778 CCCTGGGTTGCCCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 1160 227 0.9966583 1 0.9983291 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.07809802 0.02229652 0.9954941 0.9481319 NA 0.05019727 NA FALSE NA 0 0.478 NA NA NA PTMA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:231711305 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 0.348183 0.30004 0.1408 0.12189 0.8167077 0.0617308 0.3774919 FALSE 8.12902e-06 ENSE00002389788_003 ENSE00002389788 003 2 232576004 232576173 + 54 72 44 A G 232576017 5276 14 CCCTGGGTTGCTCGGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711306 231711307 231711307 upstr_intron -41 -0.7407407 CCCTGGGTTGCTCGGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 449 124 0.9977793 0.9965509 0.9971651 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.079219 0.01884745 0.9954941 0.9481319 NA 0.04903322 NA FALSE NA 0 -1.206 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 1/4 1 NA CAG A,G 2.482e-05 2:231711307 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant -0.013652 0.17911 0.0575 0.12189 0.4899316 0.0617308 0.3774919 FALSE 1.62555e-05 ENSE00002389788_005 ENSE00002389788 005 2 232576004 232576173 + 54 72 44 A G 232576022 5278 19 CCCTGGGTTGCTCAGAAGGCTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711311 231711312 231711312 upstr_intron -36 -0.6481481 CCCTGGGTTGCTCAGAAGGCTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 91 33 0.9479068 1 0.9739534 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.02934657 0.02229652 0.9954941 0.9481319 NA 0.02582154 NA FALSE NA 0.533 0.615 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 1/4 rs373716940 1 NA G:0.0005 G:0 GAC A,G 1.654e-05 2:231711312 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 1.044407 0.96124 0.45858 0.12189 0.848988 0.728441 0.3774919 FALSE 4.06246e-06 ENSE00002389788_006 ENSE00002389788 006 2 232576004 232576173 + 54 72 44 A G 232576026 5279 23 CCCTGGGTTGCTCAGAAGACTTGCTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711315 231711316 231711316 upstr_intron -32 -0.5740741 CCCTGGGTTGCTCAGAAGACTTGCTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 547 140 0.99109 1 0.995545 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.07252972 0.02229652 0.9954941 0.9481319 NA 0.04741312 NA FALSE NA 0.003 1.669 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 1/4 1 NA TAC A,G 2.482e-05 2:231711316 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 0.777414 0.8576 0.31514 0.12189 0.8932806 0.222347 0.3774919 FALSE 1.62491e-05 ENSE00002389788_008 ENSE00002389788 008 2 232576004 232576173 + 54 72 44 A C 232576033 5281 30 CCCTGGGTTGCTCAGAAGACTTACTGGTTCCTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711322 231711323 231711323 upstr_intron -25 -0.4444444 CCCTGGGTTGCTCAGAAGACTTACTGGTTCCTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 550 422 0.9988722 0.9989104 0.9988913 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08031193 0.02120694 0.9954941 0.9481319 NA 0.05075944 NA FALSE NA 0.171 2.653 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 1/4 1 NA TAC A,C 8.273e-06 2:231711323 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 0.408501 0.31665 0.24272 0.12189 0.8383476 0.158457 0.3774919 FALSE 1.21858e-05 ENSE00002389788_009 ENSE00002389788 009 2 232576004 232576173 + 54 72 44 C T 232576040 5282 37 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTTCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711329 231711330 231711330 upstr_intron -18 -0.3148148 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTTCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 11 55 1 1 1 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.02229652 0.9954941 0.9481319 NA 0.05186813 NA FALSE NA 0.107 -1.147 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 1/4 rs201887927 1 NA T:0.0003 T:0.0005 TCC C,T 0.0001572 2:231711330 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 1.872121 0.16805 0.02008 0.12189 0.926209 0.150975 0.3774919 FALSE 0.000174659 ENSE00002389788_011 ENSE00002389788 011 2 232576004 232576173 + 54 72 44 C T 232576047 5284 44 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTTCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711336 231711337 231711337 upstr_intron -11 -0.1851852 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTTCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 160 151 1 1 1 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.02229652 0.9954941 0.9481319 NA 0.05186813 NA FALSE NA 0.011 -0.022 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 1/4 1 NA TCC C,T 1.655e-05 2:231711337 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 1.972685 0.26422 0.10817 0.12189 0.922028 0.213365 0.3774919 FALSE 1.21851e-05 ENSE00002389788_012 ENSE00002389788 012 2 232576004 232576173 + 54 72 44 C G 232576048 5285 45 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCGCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711337 231711338 231711338 upstr_intron -10 -0.1666667 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCGCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 401 13 0.9973141 1 0.998657 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.0787538 0.02229652 0.9954941 0.9481319 NA 0.05052516 NA FALSE NA 0.001 0.251 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 1/4 1 NA CCC C,G 8.273e-06 2:231711338 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 1.874992 0.32077 0.28487 0.12189 0.8869598 0.23287 0.3774919 FALSE 8.12308e-06 ENSE00002389788_015 ENSE00002389788 015 2 232576004 232576173 + 54 72 44 A G 232576055 5288 52 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGGAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711344 231711345 231711345 upstr_intron -3 -0.03703704 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGGAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 61 406 1 0.9844659 0.9922329 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.006762403 0.9954941 0.9481319 NA 0.04410107 NA FALSE NA 0.909 1.652 . splice_region_variant&intron_variant LOW PTMA HGNC 9623 ENST00000410064 1/4 1 NA GAA A,G 8.273e-06 2:231711345 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 splice_region_variant 1.81782 0.92757 0.90612 0.12189 0.90578 0.369039 0.3774919 FALSE 4.06124e-06 ENSE00002389788_016 ENSE00002389788 016 2 232576004 232576173 + 54 72 44 C T 232576060 5289 57 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGATTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711349 231711350 231711350 exon 3 0.04166667 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGATTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 94 245 1 0.9993539 0.999677 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.02165046 0.9954941 0.9481319 NA 0.05154509 NA FALSE NA 1 1.202 . splice_region_variant&synonymous_variant LOW PTMA HGNC 9623 ENST00000410064 2/5 1 NA ACT C,T 8.273e-06 2:231711350 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 missense_variant 1.933101 0.92779 0.70072 0.627647 0.9633369 0 0.3774919 FALSE 4.06121e-06 ENSE00002389788_017 ENSE00002389788 017 2 232576004 232576173 + 54 72 44 G T 232576069 5290 66 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGATAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711358 231711359 231711359 exon 12 0.1666667 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGATAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 68 87 1 1 1 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.02229652 0.9954941 0.9481319 NA 0.05186813 NA FALSE NA 1 3.587 . missense_variant MODERATE PTMA HGNC 9623 ENST00000410064 2/5 1 deleterious(0.03) unknown(0) NA AGA G,T 0.0002565 2:231711359 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 stop_gained 3.21378 0.94181 0.89338 0.627647 0.9958215 0 0.3774919 FALSE 0.000178686 ENSE00002389788_018 ENSE00002389788 018 2 232576004 232576173 + 54 72 44 G A 232576072 5291 69 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAAAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711361 231711362 231711362 exon 15 0.2083333 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAAAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 31 68 1 1 1 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.02229652 0.9954941 0.9481319 NA 0.05186813 NA FALSE NA 1 7.643 . synonymous_variant LOW PTMA HGNC 9623 ENST00000410064 2/5 rs371701729 1 NA A:0 A:0.0001 AGA G,A 8.272e-06 2:231711362 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 missense_variant 1.692575 0.97133 0.96034 0.627647 0.9873856 0 0.3774919 FALSE 4.06111e-06 ENSE00002389788_022 ENSE00002389788 022 2 232576004 232576173 + 54 72 44 T C 232576099 5295 96 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAACGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711388 231711389 231711389 exon -31 0.5833333 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAACGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 319 29 0.9936951 1 0.9968476 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.07513487 0.02229652 0.9954941 0.9481319 NA 0.0487157 NA FALSE NA 0.997 0.197 . synonymous_variant LOW PTMA HGNC 9623 ENST00000410064 2/5 1 NA ATG T,C 3.308e-05 2:231711389 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 missense_variant 0.43079 0.90343 0.69405 0.627647 0.867187 0 0.3774919 FALSE 6.49751e-05 ENSE00002389788_024 ENSE00002389788 024 2 232576004 232576173 + 54 72 44 G A 232576123 5297 120 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGAAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711412 231711413 231711413 exon -7 0.9166667 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGAAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 292 1630 0.9924329 0.9483814 0.9704072 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.07387264 -0.02932205 0.9954941 0.9481319 NA 0.02227529 NA FALSE NA 0.756 -0.348 . synonymous_variant LOW PTMA HGNC 9623 ENST00000410064 2/5 1 NA GGA G,A 8.269e-06 2:231711413 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 synonymous_variant 1.003528 0.9162 0.73936 0.627647 0.6820687 0 0.3774919 FALSE NA ENSE00002389788_025 ENSE00002389788 025 2 232576004 232576173 + 54 72 44 A C 232576125 5298 122 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGACTGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711414 231711415 231711415 exon -5 0.9444444 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGACTGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 89 312 1 0.997967 0.9989835 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.02026349 0.9954941 0.9481319 NA 0.05085161 NA FALSE NA 1 7.239 . missense_variant MODERATE PTMA HGNC 9623 ENST00000410064 2/5 1 deleterious(0.02) unknown(0) NA AAT A,C 2.481e-05 2:231711415 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 missense_variant 3.965107 0.96528 0.98508 0.627647 0.9562079 0 0.3774919 FALSE 1.21833e-05 ENSE00002389788_026 ENSE00002389788 026 2 232576004 232576173 + 54 72 44 G A 232576132 5299 129 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTAAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 231711421 231711422 231711422 downstr_intron 3 1.069767 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTAAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 42 20 1 1 1 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.02229652 0.9954941 0.9481319 NA 0.05186813 NA FALSE NA 1 2.258 . splice_region_variant&intron_variant LOW PTMA HGNC 9623 ENST00000410064 2/4 rs200661866 1 A:0.0014 A:0 A:0 NA A:0.0069 A:0 A:0 TGA G,A 8.269e-05 2:231711422 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 splice_region_variant 1.562025 0.94242 0.94564 0.12189 0.8621583 0.815575 0.3774919 FALSE 8.52847e-05 ENSE00002389788_027 ENSE00002389788 027 2 232576004 232576173 + 54 72 44 C T 232576156 5300 153 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCTTGGCAGCTACCGCCCCA 231711293 231711463 231711445 231711446 231711446 downstr_intron 27 1.627907 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCTTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 109 152 1 1 1 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.08143973 0.02229652 0.9954941 0.9481319 NA 0.05186813 NA FALSE NA 0 0.055 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 2/4 1 NA CCT C,T 8.27e-06 2:231711446 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 0.185183 0.26135 0.28566 0.12189 0.8310096 0.0682987 0.3774919 FALSE 8.13028e-06 ENSE00002389788_028 ENSE00002389788 028 2 232576004 232576173 + 54 72 44 T C 232576157 5301 154 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCCGGCAGCTACCGCCCCA 231711293 231711463 231711446 231711447 231711447 downstr_intron 28 1.651163 CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCCGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA mutant NA NA NA NA NA 268 72 0.936999 1 0.9684995 0.9994392 0.9915489 0.9185603 0.9777035 NA NA 0.01843878 0.02229652 0.9954941 0.9481319 NA 0.02036765 NA FALSE NA 0 -0.348 . intron_variant MODIFIER PTMA HGNC 9623 ENST00000410064 2/4 1 NA CTG T,C 8.27e-06 2:231711447 PTMA HGNC Symbol protein_coding 6646 ENSG00000187514 ENSE00003475971 non_coding_transcript_exon_variant 0.208152 0.20115 0.14907 0.12189 0.6858707 0.0682987 0.3774919 FALSE 8.13134e-06 ENSE00002389788_BRK ENSE00002389788 BRK 2 232576004 232576173 + 54 72 44 A,G; T,T NA NA NA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGATTGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTCCGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA 231711293 231711463 NA NA NA NA NA NA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGATTGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTCCGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA CCCTGGGTTGCTCAGAAGACTTACTGGTTACTGGTTCCTTCTTCCCTTTTGAAGGACTTAAAGGAGAAGAAGGAAGTTGTGGAAGAGGCAGAAAATGGAAGAGACGCCCCTGCTAACGGGAATGCTGTGAGTGTCTGCTTTGCTCCTGAGCCCTGGCAGCTACCGCCCCA control NA NA NA NA NA 16 110 0.8 0.9669882 0.8834941 0.9994392 0.9915489 0.9185603 0.9777035 NA NA -0.1185603 -0.01071528 0.9954941 0.9481319 NA -0.06463778 NA FALSE NA NA NA NA NA NA PTMA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PTMA NA NA NA ENSG00000187514 ENSE00003475971 NA NA NA NA NA NA NA 0.3774919 FALSE NA ENSE00002390471_000 ENSE00002390471 000 3 172050832 172051001 + 47 87 36 NA NA NA NA NA CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA 172333041 172333211 NA NA NA NA NA NA CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA natural NA NA NA NA NA 3121 3379 0.9004903 0.825948 0.8632192 NA NA 0.9004903 0.825948 NA NA 0 0 NA 0.8632192 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FNDC3B NA NA NA ENSG00000075420 ENSE00003547557 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002390471_003 ENSE00002390471 003 3 172050832 172051001 + 47 87 36 G C 172050869 3622 38 CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTCCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA 172333041 172333211 172333078 172333079 172333079 upstr_intron -10 -0.1914894 CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTCCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA mutant NA NA NA NA NA 59 608 1 1 1 NA NA 0.9004903 0.825948 NA NA 0.09950972 0.174052 NA 0.8632192 NA 0.1367808 NA FALSE NA 0.974 1.79 NA NA NA FNDC3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:172333079 FNDC3B HGNC Symbol protein_coding 362037 ENSG00000075420 ENSE00003547557 intron_variant 1.491191 0.15108 0.65009 0.156188 0.7789619 0.339622 1 TRUE 2.03189e-05 ENSE00002390471_006 ENSE00002390471 006 3 172050832 172051001 + 47 87 36 A G 172050908 3625 77 CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGGGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA 172333041 172333211 172333117 172333118 172333118 exon 30 0.3448276 CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGGGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA mutant NA NA NA NA NA 117 38 0.7645195 0.8 0.7822597 NA NA 0.9004903 0.825948 NA NA -0.1359708 -0.02594804 NA 0.8632192 NA -0.08095942 NA FALSE NA 1 4.798 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FNDC3B HGNC 24670 ENST00000494000 2/3 1 NA GAG A,G 8.236e-06 3:172333118 FNDC3B HGNC Symbol protein_coding 362037 ENSG00000075420 ENSE00003547557 synonymous_variant 0.82639 0.9585 0.92687 0.706298 0.7580438 0 1 TRUE 4.0618e-06 ENSE00002390471_008 ENSE00002390471 008 3 172050832 172051001 + 47 87 36 A G 172050955 3627 124 CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTGTAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA 172333041 172333211 172333164 172333165 172333165 exon -11 0.8850575 CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTGTAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA CCCAGAATTTTTTATACTGATGTTTCTTCCTGGCTTTGCCTTTTCAGGATAACCTTTTCCACCCAAAATACACTGGAGAGGATTTAACCTGTACTGTGAAAAATCTCAAAAGAAGCACACAGTATAAATTCAGGGTGAGTCAGTCATTTTGCTACCTGAACTGCTTAAAA mutant NA NA NA NA NA 55 399 1 0.9999046 0.9999523 NA NA 0.9004903 0.825948 NA NA 0.09950972 0.1739565 NA 0.8632192 NA 0.1367331 NA FALSE NA 1 8.963 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FNDC3B HGNC 24670 ENST00000494000 2/3 1 NA TAT A,G 1.647e-05 3:172333165 FNDC3B HGNC Symbol protein_coding 362037 ENSG00000075420 ENSE00003547557 missense_variant 6.254887 0.99196 0.99472 0.706298 0.998405 0 1 TRUE 8.12394e-06 ENSE00002390564_000 ENSE00002390564 000 17 3776650 3776819 - 53 54 63 NA NA NA NA NA GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 NA NA NA NA NA NA GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG natural 50 29 0.9972052 0.996433 0.9968191 1354 769 0.9715154 0.9986963 0.9851059 0.9972052 0.996433 0.9715154 0.9986963 0 0 0 0 0.9968191 0.9851059 0 0 0 FALSE FALSE NA NA NA NA NA CAMKK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMKK1 NA NA NA ENSG00000004660 ENSE00002390564 NA NA NA NA NA NA NA 0.06323909 FALSE NA ENSE00002390564_001 ENSE00002390564 001 17 3776650 3776819 - 53 54 63 C T 3776661 411 159 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTAAGGCGGGCACG 3873355 3873525 3873366 3873367 3873367 downstr_intron 42 1.807692 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTAAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant NA NA NA NA NA 807 50 0.9988727 1 0.9994363 0.9972052 0.996433 0.9715154 0.9986963 NA NA 0.02735724 0.001303669 0.9968191 0.9851059 NA 0.01433045 NA FALSE NA 0 -0.713 . intron_variant MODIFIER CAMKK1 HGNC 1469 ENST00000381769 11/15 1 NA TCA C,T 3.295e-05 17:3873367 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 intron_variant 0.151391 0.17389 0.03056 0.062308 0.7628146 0.0746872 0.06323909 FALSE 1.2234e-05 ENSE00002390564_006 ENSE00002390564 006 17 3776650 3776819 - 53 54 63 A T 3776688 416 132 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGAAGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873393 3873394 3873394 downstr_intron 15 1.288462 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGAAGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant NA NA NA NA NA 59 240 1 1 1 0.9972052 0.996433 0.9715154 0.9986963 NA NA 0.02848457 0.001303669 0.9968191 0.9851059 NA 0.01489412 NA FALSE NA 0 -1.402 . intron_variant MODIFIER CAMKK1 HGNC 1469 ENST00000381769 11/15 1 NA CAT A,T 1.647e-05 17:3873394 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 intron_variant 0.008797 0.14058 0.03173 0.162113 0.6955059 0.126198 0.06323909 FALSE 8.12968e-06 ENSE00002390564_008 ENSE00002390564 008 17 3776650 3776819 - 53 54 63 T C 3776710 418 110 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTGTGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873415 3873416 3873416 exon -8 0.8703704 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTGTGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant 18 12 1 1 1 NA NA NA NA NA 0.9972052 0.996433 0.9715154 0.9986963 0.002794786 0.003566993 NA NA 0.9968191 0.9851059 0.00318089 NA NA NA FALSE 0.972 1.374 . missense_variant MODERATE CAMKK1 HGNC 1469 ENST00000381769 11/16 1 deleterious(0) possibly_damaging(0.819) NA ATA T,C 8.236e-06 17:3873416 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 missense_variant 5.738095 0.97855 0.95954 0.706298 0.9981098 0 0.06323909 FALSE NA ENSE00002390564_010 ENSE00002390564 010 17 3776650 3776819 - 53 54 63 A G 3776715 420 105 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTCGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873420 3873421 3873421 exon -13 0.7777778 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTCGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant NA NA NA NA NA 24 200 1 1 1 0.9972052 0.996433 0.9715154 0.9986963 NA NA 0.02848457 0.001303669 0.9968191 0.9851059 NA 0.01489412 NA FALSE NA 0.97 0.144 . synonymous_variant LOW CAMKK1 HGNC 1469 ENST00000381769 11/16 rs374764278 1 NA G:0.0002 G:0 CAA A,G 2.471e-05 17:3873421 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 synonymous_variant 0.024961 0.97153 0.78995 0.706298 0.6638046 0 0.06323909 FALSE 2.43704e-05 ENSE00002390564_011 ENSE00002390564 011 17 3776650 3776819 - 53 54 63 C T 3776727 421 93 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACATTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873432 3873433 3873433 exon -25 0.5555556 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACATTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant NA NA NA NA NA 860 217 1 1 1 0.9972052 0.996433 0.9715154 0.9986963 NA NA 0.02848457 0.001303669 0.9968191 0.9851059 NA 0.01489412 NA FALSE NA 0 -4.376 rs149710077 synonymous_variant LOW CAMKK1 HGNC 1469 ENST00000381769 11/16 rs149710077 1 NA T:0.0002 T:0 ACG C,T 4.118e-05 17:3873433 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 synonymous_variant 1.752088 0.18115 0.05479 0.706298 0.3801796 0 0.06323909 FALSE 2.43675e-05 ENSE00002390564_012 ENSE00002390564 012 17 3776650 3776819 - 53 54 63 G A 3776728 422 92 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCATGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873433 3873434 3873434 exon -26 0.537037 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCATGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant 15 11 0.9912755 0.9802461 0.9857608 NA NA NA NA NA 0.9972052 0.996433 0.9715154 0.9986963 -0.005929752 -0.01618691 NA NA 0.9968191 0.9851059 -0.01105833 NA NA NA FALSE 1 9.091 . missense_variant MODERATE CAMKK1 HGNC 1469 ENST00000381769 11/16 1 deleterious(0) probably_damaging(0.996) NA CGT G,A 8.236e-06 17:3873434 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 missense_variant 6.014052 0.99416 0.99764 0.706298 0.9990511 0 0.06323909 FALSE 8.12334e-06 ENSE00002390564_015 ENSE00002390564 015 17 3776650 3776819 - 53 54 63 C A 3776741 425 79 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGTCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873446 3873447 3873447 exon 16 0.2962963 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGTCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant 17 19 0.9933328 0.9971078 0.9952203 NA NA NA NA NA 0.9972052 0.996433 0.9715154 0.9986963 -0.003872371 0.0006747944 NA NA 0.9968191 0.9851059 -0.001598788 NA NA NA FALSE 1 7.169 . missense_variant MODERATE CAMKK1 HGNC 1469 ENST00000381769 11/16 1 tolerated(0.51) probably_damaging(0.979) NA GCC C,A 1.647e-05 17:3873447 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 missense_variant 4.2243 0.99404 0.99635 0.706298 0.9908687 0 0.06323909 FALSE 1.21851e-05 ENSE00002390564_018 ENSE00002390564 018 17 3776650 3776819 - 53 54 63 G T 3776764 428 56 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTATTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873469 3873470 3873470 upstr_intron -8 -0.1111111 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTATTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant 23 40 0.85 0.9559564 0.9029782 NA NA NA NA NA 0.9972052 0.996433 0.9715154 0.9986963 -0.1472052 -0.04047665 NA NA 0.9968191 0.9851059 -0.09384093 NA NA NA FALSE 0.154 0.741 . splice_region_variant&intron_variant LOW CAMKK1 HGNC 1469 ENST00000381769 10/15 1 NA AGA G,T 8.236e-06 17:3873470 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 splice_region_variant 1.120744 0.52808 0.33721 0.099367 0.70376 0.210357 0.06323909 FALSE 4.06177e-06 ENSE00002390564_021 ENSE00002390564 021 17 3776650 3776819 - 53 54 63 C A 3776772 431 48 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGATCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873477 3873478 3873478 upstr_intron -16 -0.2380952 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGATCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant 10 33 0.9991048 1 0.9995524 NA NA NA NA NA 0.9972052 0.996433 0.9715154 0.9986963 0.00189956 0.003566993 NA NA 0.9968191 0.9851059 0.002733277 NA NA NA FALSE 0 -2.427 NA NA NA CAMKK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:3873478 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 intron_variant 0.718679 0.22622 0.04293 0.062308 0.7297795 0.157936 0.06323909 FALSE 1.21868e-05 ENSE00002390564_023 ENSE00002390564 023 17 3776650 3776819 - 53 54 63 C T 3776784 433 36 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGAGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873489 3873490 3873490 upstr_intron -28 -0.4285714 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGAGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant NA NA NA NA NA 237 229 0.9914109 1 0.9957055 0.9972052 0.996433 0.9715154 0.9986963 NA NA 0.0198955 0.001303669 0.9968191 0.9851059 NA 0.01059959 NA FALSE NA 0 -0.008 . intron_variant MODIFIER CAMKK1 HGNC 1469 ENST00000381769 10/15 rs200470761 1 NA CCC C,T 2.471e-05 17:3873490 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 intron_variant 0.743027 0.25879 0.10629 0.062308 0.7247294 0.157936 0.06323909 FALSE 2.03184e-05 ENSE00002390564_024 ENSE00002390564 024 17 3776650 3776819 - 53 54 63 C G 3776785 434 35 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGCGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873490 3873491 3873491 upstr_intron -29 -0.4444444 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGCGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant NA NA NA NA NA 119 277 0.9943319 1 0.997166 0.9972052 0.996433 0.9715154 0.9986963 NA NA 0.02281652 0.001303669 0.9968191 0.9851059 NA 0.01206009 NA FALSE NA 0 0.436 . intron_variant MODIFIER CAMKK1 HGNC 1469 ENST00000381769 10/15 rs199971486 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCC C,G 1.647e-05 17:3873491 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 intron_variant 0.242227 0.19707 0.07447 0.062308 0.6823509 0.123323 0.06323909 FALSE 8.1281e-06 ENSE00002390564_025 ENSE00002390564 025 17 3776650 3776819 - 53 54 63 C T 3776786 435 34 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTAGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873491 3873492 3873492 upstr_intron -30 -0.4603175 GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTAGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant 16 25 0.85 0.85 0.85 NA NA NA NA NA 0.9972052 0.996433 0.9715154 0.9986963 -0.1472052 -0.146433 NA NA 0.9968191 0.9851059 -0.1468191 NA NA NA FALSE 0 -0.543 . intron_variant MODIFIER CAMKK1 HGNC 1469 ENST00000381769 10/15 1 NA CCA C,T 1.647e-05 17:3873492 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 intron_variant 0.463845 0.21485 0.0473 0.062308 0.7175453 0.0725607 0.06323909 FALSE 1.62573e-05 ENSE00002390564_029 ENSE00002390564 029 17 3776650 3776819 - 53 54 63 G T 3776806 439 14 GGAGCTGGGTGGGAAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 3873511 3873512 3873512 upstr_intron -50 -0.7777778 GGAGCTGGGTGGGAAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG mutant NA NA NA NA NA 192 27 1 1 1 0.9972052 0.996433 0.9715154 0.9986963 NA NA 0.02848457 0.001303669 0.9968191 0.9851059 NA 0.01489412 NA FALSE NA 0.005 0.743 . intron_variant MODIFIER CAMKK1 HGNC 1469 ENST00000381769 10/15 rs376271392 1 NA T:0 T:0.0001 TGC G,T 8.236e-06 17:3873512 CAMKK1 HGNC Symbol protein_coding 34576 ENSG00000004660 ENSE00002390564 intron_variant 0.074196 0.22939 0.14359 0.099367 0.8301495 0.0476178 0.06323909 FALSE 4.07126e-06 ENSE00002390564_BRK ENSE00002390564 BRK 17 3776650 3776819 - 53 54 63 A,G; T,T NA NA NA GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCTTGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGCCGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG 3873355 3873525 NA NA NA NA NA NA GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCTTGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGCCGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG GGAGCTGGGTGGGCAGAGGTGGCTGTGCCTGTTGGGGACTGATGTGAGCATGTTTCTTTCCAGGCCTTGGATGTATGGGCCACTGGCGTCACGTTGTACTGCTTTGTCTATGGGAAGGTGAGTGCCAGGGATGCCAGCAGAGCTGGGGCGGGTCCAGTGAGGCGGGCACG control 40 201 0 0 0 NA NA NA NA NA 0.9972052 0.996433 0.9715154 0.9986963 -0.9972052 -0.996433 NA NA 0.9968191 0.9851059 -0.9968191 NA NA NA TRUE NA NA NA NA NA CAMKK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAMKK1 NA NA NA ENSG00000004660 ENSE00002390564 NA NA NA NA NA NA NA 0.06323909 FALSE NA ENSE00002391389_000 ENSE00002391389 000 7 150500426 150500595 + 62 57 51 NA NA NA NA NA TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC 150803337 150803507 NA NA NA NA NA NA TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC natural 32 70 0.948532 0.8185278 0.8835299 825 831 0.9627446 0.9682158 0.9654802 0.948532 0.8185278 0.9627446 0.9682158 0 0 0 0 0.8835299 0.9654802 0 0 0 FALSE FALSE NA NA NA NA NA TMEM176A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM176A NA NA NA ENSG00000002933 ENSE00003656853 NA NA NA NA NA NA NA 0.3998104 FALSE NA ENSE00002391389_002 ENSE00002391389 002 7 150500426 150500595 + 62 57 51 A G 150500476 3084 51 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAGTCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC 150803337 150803507 150803387 150803388 150803388 upstr_intron -12 -0.1774194 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAGTCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC mutant NA NA NA NA NA 84 295 0 0 0 0.948532 0.8185278 0.9627446 0.9682158 NA NA -0.9627446 -0.9682158 0.8835299 0.9654802 NA -0.9654802 NA TRUE NA 0 -0.347 . downstream_gene_variant MODIFIER TMEM176A HGNC 24930 ENST00000475710 1 NA AAT A,G 2.475e-05 7:150803388 TMEM176A HGNC Symbol protein_coding 4717 ENSG00000002933 ENSE00003656853 non_coding_transcript_exon_variant 2.156832 0.16091 0.01028 0.06567 0.8451315 0.235888 0.3998104 FALSE 1.52946e-05 ENSE00002391389_003 ENSE00002391389 003 7 150500426 150500595 + 62 57 51 C T 150500480 3085 55 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTTTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC 150803337 150803507 150803391 150803392 150803392 upstr_intron -8 -0.1129032 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTTTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC mutant NA NA NA NA NA 45 169 1 0.999063 0.9995315 0.948532 0.8185278 0.9627446 0.9682158 NA NA 0.03725543 0.03084724 0.8835299 0.9654802 NA 0.03405134 NA FALSE NA 0.001 0.118 . downstream_gene_variant MODIFIER TMEM176A HGNC 24930 ENST00000475710 rs377398540 1 NA T:0 T:0.0001 TCT C,T 2.474e-05 7:150803392 TMEM176A HGNC Symbol protein_coding 4717 ENSG00000002933 ENSE00003656853 splice_region_variant 2.028597 0.84077 0.01891 0.06567 0.9039601 0.377794 0.3998104 FALSE 2.94832e-05 ENSE00002391389_010 ENSE00002391389 010 7 150500426 150500595 + 62 57 51 C T 150500527 3092 102 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAATGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC 150803337 150803507 150803438 150803439 150803439 exon -18 0.7017544 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAATGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC mutant NA NA NA NA NA 20 18 0.8207154 0.8 0.8103577 0.948532 0.8185278 0.9627446 0.9682158 NA NA -0.1420291 -0.1682158 0.8835299 0.9654802 NA -0.1551225 NA FALSE NA 0.003 -0.026 rs117401275 downstream_gene_variant MODIFIER TMEM176A HGNC 24930 ENST00000475710 rs117401275 1 T:0.0046 T:0 T:0.0072 NA T:0 T:0.0129 T:0.0051 T:0.0041 T:0.0097 ACG C,T 0.011 7:150803439 TMEM176A HGNC Symbol protein_coding 4717 ENSG00000002933 ENSE00003656853 missense_variant 2.435357 0.19903 0.0294 0.549168 0.9274028 0 0.3998104 FALSE 0.0110062 ENSE00002391389_011 ENSE00002391389 011 7 150500426 150500595 + 62 57 51 G A 150500528 3093 103 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACAGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC 150803337 150803507 150803439 150803440 150803440 exon -17 0.7192982 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACAGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC mutant NA NA NA NA NA 110 83 0.9877936 0.9706844 0.979239 0.948532 0.8185278 0.9627446 0.9682158 NA NA 0.02504904 0.002468601 0.8835299 0.9654802 NA 0.01375882 NA FALSE NA 0 0.084 rs145205194 downstream_gene_variant MODIFIER TMEM176A HGNC 24930 ENST00000475710 rs145205194&COSM1548684 1 NA A:0.0002 A:0 CGG G,A 2.472e-05 7:150803440 TMEM176A HGNC Symbol protein_coding 4717 ENSG00000002933 ENSE00003656853 missense_variant 1.272844 0.18826 0.0365 0.549168 0.8587571 0 0.3998104 FALSE 2.62387e-05 ENSE00002391389_013 ENSE00002391389 013 7 150500426 150500595 + 62 57 51 G C 150500543 3095 118 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTCGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC 150803337 150803507 150803454 150803455 150803455 exon -2 0.9824561 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTCGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC mutant NA NA NA NA NA 939 73 0.9987791 0.9978273 0.9983032 0.948532 0.8185278 0.9627446 0.9682158 NA NA 0.03603457 0.02961153 0.8835299 0.9654802 NA 0.03282305 NA FALSE NA 1 1.368 rs143618766 downstream_gene_variant MODIFIER TMEM176A HGNC 24930 ENST00000475710 rs143618766 1 NA C:0 C:0.0001 TGG G,C 1.648e-05 7:150803455 TMEM176A HGNC Symbol protein_coding 4717 ENSG00000002933 ENSE00003656853 missense_variant 3.567288 0.97241 0.83816 0.549168 0.9147885 0 0.3998104 FALSE 2.20078e-05 ENSE00002391389_020 ENSE00002391389 020 7 150500426 150500595 + 62 57 51 A G 150500576 3102 151 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCGGGTTCAGGCTGGAGGTCAC 150803337 150803507 150803487 150803488 150803488 downstr_intron 32 1.64 TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCGGGTTCAGGCTGGAGGTCAC TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC mutant NA NA NA NA NA 74 17 1 1 1 0.948532 0.8185278 0.9627446 0.9682158 NA NA 0.03725543 0.03178421 0.8835299 0.9654802 NA 0.03451982 NA FALSE NA 0.026 0.159 rs741065 downstream_gene_variant MODIFIER TMEM176A HGNC 24930 ENST00000475710 rs741065 1 G:0.3556 G:0.3018 G:0.2939 NA G:0.6379 G:0.1551 G:0.3875 G:0.2701 G:0.1828 CAG A,G 0.267 7:150803488 TMEM176A HGNC Symbol protein_coding 4717 ENSG00000002933 ENSE00003656853 non_coding_transcript_exon_variant 0.564497 0.20677 0.02048 0.06567 0.8123732 0.0822805 0.3998104 FALSE 0.280204 ENSE00002391389_BRK ENSE00002391389 BRK 7 150500426 150500595 + 62 57 51 A,G; T,T NA NA NA TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCTTGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGCCAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC 150803337 150803507 NA NA NA NA NA NA TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCTTGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGCCAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC TCTCGTGGGAGAGGAGTTGCATTTCCTGTACTAAGCCTGCTCCTGGCTCAATCTCTCCCCAGGCTGTGCTGGCTGGAGCTGCTGCCTTCATTTACGAGAAACGGGGTGGTACATACTGGGTAAGTTCAGGGAAGGGCATGGGAGGGGACCAGGTTCAGGCTGGAGGTCAC control NA NA NA NA NA 12 874 0 0.06853597 0.03426799 0.948532 0.8185278 0.9627446 0.9682158 NA NA -0.9627446 -0.8996798 0.8835299 0.9654802 NA -0.9312122 NA TRUE NA NA NA NA NA NA TMEM176A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM176A NA NA NA ENSG00000002933 ENSE00003656853 NA NA NA NA NA NA NA 0.3998104 FALSE NA ENSE00002391977_000 ENSE00002391977 000 2 234298999 234299168 + 50 81 39 NA NA NA NA NA GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 NA NA NA NA NA NA GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG natural 66 37 0.9985937 0.9982131 0.9984034 3866 2152 0.9975392 0.9916367 0.9945879 0.9985937 0.9982131 0.9975392 0.9916367 0 0 0 0 0.9984034 0.9945879 0 0 0 FALSE FALSE NA NA NA NA NA DGKD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKD NA NA NA ENSG00000077044 ENSE00003755602 NA NA NA NA NA NA NA 0.9770706 TRUE NA ENSE00002391977_001 ENSE00002391977 001 2 234298999 234299168 + 50 81 39 C G 234299011 5413 13 GGATGTACCTGTGTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390364 233390365 233390365 upstr_intron -38 -0.74 GGATGTACCTGTGTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 790 77 0.9990585 1 0.9995293 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.001519288 0.00836335 0.9984034 0.9945879 NA 0.004941319 NA FALSE NA 0 -0.089 . intron_variant MODIFIER DGKD HGNC 2851 ENST00000447484 2/4 1 NA TCT C,G 8.236e-06 2:233390365 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 intron_variant 0.104696 0.2362 0.00946 0.295142 0.4689748 0.0510595 0.9770706 TRUE 4.1087e-06 ENSE00002391977_002 ENSE00002391977 002 2 234298999 234299168 + 50 81 39 G A 234299017 5414 19 GGATGTACCTGTCTTTATATGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390370 233390371 233390371 upstr_intron -32 -0.62 GGATGTACCTGTCTTTATATGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 439 517 1 1 1 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 0.00836335 0.9984034 0.9945879 NA 0.005412051 NA FALSE NA 0 -0.819 . intron_variant MODIFIER DGKD HGNC 2851 ENST00000447484 2/4 1 NA TGT G,A 8.236e-06 2:233390371 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 intron_variant 0.588345 0.24031 0.04931 0.295142 0.7357999 0.0510595 0.9770706 TRUE 4.09836e-06 ENSE00002391977_003 ENSE00002391977 003 2 234298999 234299168 + 50 81 39 G T 234299019 5415 21 GGATGTACCTGTCTTTATGTTCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390372 233390373 233390373 upstr_intron -30 -0.58 GGATGTACCTGTCTTTATGTTCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 526 255 0.9979479 1 0.9989739 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.0004086133 0.00836335 0.9984034 0.9945879 NA 0.004385982 NA FALSE NA 0.013 1.736 . intron_variant MODIFIER DGKD HGNC 2851 ENST00000447484 2/4 rs370713887 1 NA T:0.0002 T:0 TGC G,T 1.647e-05 2:233390373 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 intron_variant 0.498516 0.31966 0.12651 0.295142 0.7711339 0.0510595 0.9770706 TRUE 1.22397e-05 ENSE00002391977_004 ENSE00002391977 004 2 234298999 234299168 + 50 81 39 A T 234299024 5416 26 GGATGTACCTGTCTTTATGTGCCTTTGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390377 233390378 233390378 upstr_intron -25 -0.48 GGATGTACCTGTCTTTATGTGCCTTTGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 291 145 0.9107227 0.9997371 0.9552299 0.9985937 0.9982131 0.9975392 0.9916367 NA NA -0.08681657 0.008100457 0.9984034 0.9945879 NA -0.03935805 NA FALSE NA 0 -0.865 . intron_variant MODIFIER DGKD HGNC 2851 ENST00000447484 2/4 1 NA TAG A,T 8.236e-06 2:233390378 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 intron_variant 0.592139 0.20239 0.04961 0.295142 0.7910739 0.0866292 0.9770706 TRUE 2.03772e-05 ENSE00002391977_005 ENSE00002391977 005 2 234298999 234299168 + 50 81 39 C T 234299027 5417 29 GGATGTACCTGTCTTTATGTGCCTTAGTTCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390380 233390381 233390381 upstr_intron -22 -0.42 GGATGTACCTGTCTTTATGTGCCTTAGTTCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 542 44 0.9956688 0.8 0.8978344 0.9985937 0.9982131 0.9975392 0.9916367 NA NA -0.001870423 -0.1916367 0.9984034 0.9945879 NA -0.09675354 NA FALSE NA 0 0.467 . intron_variant MODIFIER DGKD HGNC 2851 ENST00000447484 2/4 1 NA TCC C,T 8.236e-06 2:233390381 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 intron_variant 1.799161 0.23486 0.0684 0.295142 0.7931953 0.0510595 0.9770706 TRUE 4.07372e-06 ENSE00002391977_006 ENSE00002391977 006 2 234298999 234299168 + 50 81 39 T C 234299044 5418 46 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTCCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390397 233390398 233390398 upstr_intron -5 -0.08 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTCCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 214 239 0.9998075 0.9881991 0.9940033 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002268288 -0.003437523 0.9984034 0.9945879 NA -0.0005846178 NA FALSE NA 0.058 1.344 . splice_region_variant&intron_variant LOW DGKD HGNC 2851 ENST00000447484 2/4 1 NA TTC T,C 8.236e-06 2:233390398 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 splice_region_variant 0.719537 0.97536 0.41867 0.295142 0.7980396 0.969329 0.9770706 TRUE 4.06616e-06 ENSE00002391977_007 ENSE00002391977 007 2 234298999 234299168 + 50 81 39 A C 234299052 5419 54 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCACTCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390405 233390406 233390406 exon 4 0.04938272 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCACTCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 370 160 1 1 1 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 0.00836335 0.9984034 0.9945879 NA 0.005412051 NA FALSE NA 0.992 3.511 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:233390406 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 missense_variant 1.725852 0.97415 0.87168 0.736574 0.7768103 0 0.9770706 TRUE 2.84465e-05 ENSE00002391977_008 ENSE00002391977 008 2 234298999 234299168 + 50 81 39 A G 234299052 5420 54 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAGTCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390405 233390406 233390406 exon 4 0.04938272 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAGTCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 153 385 1 0.9932197 0.9966099 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 0.001583081 0.9984034 0.9945879 NA 0.002021917 NA FALSE NA 0.992 3.511 NA NA NA DGKD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKD NA NA NA ENSG00000077044 ENSE00003755602 missense_variant 1.918834 0.98174 0.93261 0.736574 0.9781158 0 0.9770706 TRUE 2.84465e-05 ENSE00002391977_009 ENSE00002391977 009 2 234298999 234299168 + 50 81 39 T C 234299056 5421 58 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCACATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390409 233390410 233390410 exon 8 0.09876543 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCACATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 205 631 1 0.9954721 0.9977361 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 0.003835475 0.9984034 0.9945879 NA 0.003148113 NA FALSE NA 1 7.297 . missense_variant MODERATE DGKD HGNC 2851 ENST00000447484 3/5 1 deleterious(0.02) probably_damaging(0.962) NA ATA T,C 8.236e-06 2:233390410 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 missense_variant 4.825836 0.99174 0.971 0.736574 0.9977326 0 0.9770706 TRUE 4.06279e-06 ENSE00002391977_010 ENSE00002391977 010 2 234298999 234299168 + 50 81 39 C T 234299087 5422 89 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGTGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390440 233390441 233390441 exon 39 0.4814815 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGTGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 1197 260 0.8101392 0.9987815 0.9044603 0.9985937 0.9982131 0.9975392 0.9916367 NA NA -0.1874001 0.007144838 0.9984034 0.9945879 NA -0.09012763 NA FALSE NA 0.007 -0.598 . synonymous_variant LOW DGKD HGNC 2851 ENST00000447484 3/5 COSM4092475 1 NA GCG C,T 2.471e-05 2:233390441 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 synonymous_variant 2.455101 0.93264 0.07539 0.706548 0.7682469 0 0.9770706 TRUE 3.65551e-05 ENSE00002391977_013 ENSE00002391977 013 2 234298999 234299168 + 50 81 39 A G 234299100 5425 102 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCGGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390453 233390454 233390454 exon -30 0.6419753 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCGGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 922 372 1 1 1 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 0.00836335 0.9984034 0.9945879 NA 0.005412051 NA FALSE NA 1 8.482 . missense_variant MODERATE DGKD HGNC 2851 ENST00000447484 3/5 1 tolerated(0.06) possibly_damaging(0.686) NA CAG A,G 8.236e-06 2:233390454 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 missense_variant 4.809274 0.99203 0.98238 0.736574 0.9971505 0 0.9770706 TRUE 4.06213e-06 ENSE00002391977_014 ENSE00002391977 014 2 234298999 234299168 + 50 81 39 C T 234299111 5426 113 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAATGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390464 233390465 233390465 exon -19 0.7777778 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAATGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 151 27 1 1 1 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 0.00836335 0.9984034 0.9945879 NA 0.005412051 NA FALSE NA 0.827 -0.16 rs148214470 synonymous_variant LOW DGKD HGNC 2851 ENST00000447484 3/5 COSM1018005 1 NA ACG C,T 1.647e-05 2:233390465 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 synonymous_variant 2.300353 0.9611 0.35035 0.706548 0.708549 0 0.9770706 TRUE 1.62484e-05 ENSE00002391977_015 ENSE00002391977 015 2 234298999 234299168 + 50 81 39 G A 234299112 5427 114 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACATCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390465 233390466 233390466 exon -18 0.7901235 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACATCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 785 404 1 1 1 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 0.00836335 0.9984034 0.9945879 NA 0.005412051 NA FALSE NA 1 4.241 . missense_variant MODERATE DGKD HGNC 2851 ENST00000447484 3/5 1 tolerated(0.36) benign(0.047) NA CGT G,A 8.236e-06 2:233390466 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 missense_variant 2.958177 0.98152 0.89611 0.706548 0.9864476 0 0.9770706 TRUE 8.12585e-06 ENSE00002391977_016 ENSE00002391977 016 2 234298999 234299168 + 50 81 39 G A 234299122 5428 124 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAATTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390475 233390476 233390476 exon -8 0.9135802 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAATTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 163 274 1 1 1 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 0.00836335 0.9984034 0.9945879 NA 0.005412051 NA FALSE NA 1 8.965 . missense_variant MODERATE DGKD HGNC 2851 ENST00000447484 3/5 rs374599565 1 deleterious(0) probably_damaging(0.986) NA A:0 A:0.0001 AGT G,A 8.236e-06 2:233390476 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 missense_variant 6.349813 0.99397 0.9847 0.706548 0.997422 0 0.9770706 TRUE NA ENSE00002391977_019 ENSE00002391977 019 2 234298999 234299168 + 50 81 39 C T 234299141 5431 143 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTTAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 233390494 233390495 233390495 downstr_intron 12 1.315789 GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTTAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG mutant NA NA NA NA NA 200 2142 1 0.9276813 0.9638407 0.9985937 0.9982131 0.9975392 0.9916367 NA NA 0.002460752 -0.06395535 0.9984034 0.9945879 NA -0.0307473 NA FALSE NA 0 0.604 . intron_variant MODIFIER DGKD HGNC 2851 ENST00000447484 3/4 1 NA TCA G,T 0.0007248 2:233390495 DGKD HGNC Symbol protein_coding 117597 ENSG00000077044 ENSE00003755602 intron_variant 0.081475 0.26215 0.016 0.156188 0.7962611 0.046875 0.9770706 TRUE NA ENSE00002391977_BRK ENSE00002391977 BRK 2 234298999 234299168 + 50 81 39 A,G; T,T NA NA NA GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTTTTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGCCAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG 233390352 233390522 NA NA NA NA NA NA GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTTTTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGCCAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG GGATGTACCTGTCTTTATGTGCCTTAGTCCCTGTGTTTGTCTCTTTCTAGTCAATCATATTTGATGAGGTGGATCTGACAGATGCCAGCGTAGCTGAATCCAGTACCAAAAACGTCAACAACAGTTTTACGGTAAGATTCCTCAGTCATGCCTTTCTTGATTCTTCACTG control 68 65 0 0 0 137 371 0.04032958 0 0.02016479 0.9985937 0.9982131 0.9975392 0.9916367 -0.9985937 -0.9982131 -0.9572097 -0.9916367 0.9984034 0.9945879 -0.9984034 -0.9744232 0.02398023 TRUE TRUE NA NA NA NA NA DGKD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKD NA NA NA ENSG00000077044 ENSE00003755602 NA NA NA NA NA NA NA 0.9770706 TRUE NA ENSE00002391992_000 ENSE00002391992 000 15 65222979 65223148 + 41 99 30 NA NA NA NA NA TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 NA NA NA NA NA NA TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC natural 17 20 0.9966971 0.9978642 0.9972807 256 1575 0.8455178 0.9931882 0.919353 0.9966971 0.9978642 0.8455178 0.9931882 0 0 0 0 0.9972807 0.919353 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003676047 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002391992_002 ENSE00002391992 002 15 65222979 65223148 + 41 99 30 C A 65222994 1421 16 TCTCTGGTCTGCTGGACTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930795 64930796 64930796 upstr_intron -26 -0.6097561 TCTCTGGTCTGCTGGACTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 156 45 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 0.001 -0.312 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003676047 intron_variant 0.514826 0.23661 0.04243 0.077194 0.7273493 0.0553542 0.454891 FALSE NA ENSE00002391992_016 ENSE00002391992 016 15 65222979 65223148 + 41 99 30 C G 65223058 1435 80 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGGCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930859 64930860 64930860 exon 39 0.3939394 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGGCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 391 31 1 0.9948637 0.9974318 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.001675487 0.9972807 0.919353 NA 0.07807885 NA FALSE NA 0.948 0.239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003676047 synonymous_variant 1.130196 0.92354 0.45861 0.675385 0.7306365 0 0.0002572748 FALSE 1.22984e-05 ENSE00002391992_017 ENSE00002391992 017 15 65222979 65223148 + 41 99 30 C T 65223058 1436 80 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGTCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930859 64930860 64930860 exon 39 0.3939394 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGTCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 622 939 0.8863735 0.997566 0.9419698 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.04085569 0.004377869 0.9972807 0.919353 NA 0.02261678 NA FALSE NA 0.948 0.239 NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00003676047 synonymous_variant 1.643699 0.91359 0.39766 0.675385 0.7944804 0 1.161072e-15 FALSE 1.63979e-05 ENSE00002391992_033 ENSE00002391992 033 15 65222979 65223148 + 41 99 30 G A 65223121 1452 143 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTAAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930922 64930923 64930923 downstr_intron 3 1.103448 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTAAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 125 108 1 0.8262123 0.9131061 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 -0.1669759 0.9972807 0.919353 NA -0.006246853 NA FALSE NA 1 1.905 . splice_region_variant&intron_variant LOW ANKDD1A HGNC 28002 ENST00000395720 7/14 1 NA TGA G,A 8.238e-06 15:64930923 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 splice_region_variant 1.348622 0.88122 0.42917 0.120566 0.922197 0.427984 1.161072e-15 FALSE 4.16257e-06 ENSE00002391992_035 ENSE00002391992 035 15 65222979 65223148 + 41 99 30 C T 65223128 1454 150 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACTGCCTGGGGATGGCGAGATGC 64930780 64930950 64930929 64930930 64930930 downstr_intron 10 1.344828 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACTGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 40 230 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 0 -1.939 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 7/14 rs201693426 1 T:0.0034 T:0 T:0 NA T:0 T:0 T:0.0174 T:0.0005 T:0.0008 CCG C,T 0.003469 15:64930930 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 intron_variant 0.29919 0.17371 0.02993 0.126639 0.8734039 0.158745 1.161072e-15 FALSE 0.00330532 ENSE00002391992_036 ENSE00002391992 036 15 65222979 65223148 + 41 99 30 G A 65223129 1455 151 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCACCTGGGGATGGCGAGATGC 64930780 64930950 64930930 64930931 64930931 downstr_intron 11 1.37931 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCACCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 160 169 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 0 -4.104 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64930931 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 intron_variant -0.391091 0.07948 0.00182 0.126639 0.6988343 0.158745 1.161072e-15 FALSE 9.66411e-05 ENSE00002391992_037 ENSE00002391992 037 15 65222979 65223148 + 41 99 30 G T 65223129 1456 151 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCTCCTGGGGATGGCGAGATGC 64930780 64930950 64930930 64930931 64930931 downstr_intron 11 1.37931 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCTCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 107 555 1 0.8599533 0.9299766 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 -0.1332349 0.9972807 0.919353 NA 0.01062365 NA FALSE NA 0 -4.104 NA NA NA ANKDD1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKDD1A NA NA NA ENSG00000166839 ENSE00003676047 intron_variant -0.584838 0.09396 0.00914 0.126639 0.5913911 0.158745 1.161072e-15 FALSE 1.26054e-05 ENSE00002392124_000 ENSE00002392124 000 7 144070243 144070412 + 45 90 35 NA NA NA NA NA CATGGGCAGGGATGGGGTGCATGGGACCGACTCACTTTGCACTCAAACTCAATCTTCTGGCTCAGGTAGATTAGTTCCTCTGTCCGTCGCATACTCTGGACATTGTTATTGCAGTCCCGGATCAGCTAGGGGTGCAGAGAGTGAGGAAAGGGGAAGGGCACTGTGTTAGA 144373149 144373319 NA NA NA NA NA NA TCTAACACAGTGCCCTTCCCCTTTCCTCACTCTCTGCACCCCTAGCTGATCCGGGACTGCAATAACAATGTCCAGAGTATGCGACGGACAGAGGAACTAATCTACCTGAGCCAGAAGATTGAGTTTGAGTGCAAAGTGAGTCGGTCCCATGCACCCCATCCCTGCCCATG TCTAACACAGTGCCCTTCCCCTTTCCTCACTCTCTGCACCCCTAGCTGATCCGGGACTGCAATAACAATGTCCAGAGTATGCGACGGACAGAGGAACTAATCTACCTGAGCCAGAAGATTGAGTTTGAGTGCAAAGTGAGTCGGTCCCATGCACCCCATCCCTGCCCATG natural 14 15 0.9941577 0.9743442 0.9842509 1592 1309 0.9726775 0.9351744 0.953926 0.9941577 0.9743442 0.9726775 0.9351744 0 0 0 0 0.9842509 0.953926 0 0 0 FALSE FALSE NA NA NA NA NA ARHGEF5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGEF5 NA NA NA ENSG00000050327 ENSE00002471873 NA NA NA NA NA NA NA NA NA NA ENSE00002392124_001 ENSE00002392124 001 7 144070243 144070412 + 45 90 35 A G 144070326 3008 84 CATGGGCAGGGATGGGGTGCATGGGACCGACTCACTTTGCACTCAAACTCAATCTTCTGGCTCAGGTAGATTAGTTCCTCTGTCCGCCGCATACTCTGGACATTGTTATTGCAGTCCCGGATCAGCTAGGGGTGCAGAGAGTGAGGAAAGGGGAAGGGCACTGTGTTAGA 144373149 144373319 144373232 144373233 144373233 exon 39 0.4333333 TCTAACACAGTGCCCTTCCCCTTTCCTCACTCTCTGCACCCCTAGCTGATCCGGGACTGCAATAACAATGTCCAGAGTATGCGGCGGACAGAGGAACTAATCTACCTGAGCCAGAAGATTGAGTTTGAGTGCAAAGTGAGTCGGTCCCATGCACCCCATCCCTGCCCATG TCTAACACAGTGCCCTTCCCCTTTCCTCACTCTCTGCACCCCTAGCTGATCCGGGACTGCAATAACAATGTCCAGAGTATGCGACGGACAGAGGAACTAATCTACCTGAGCCAGAAGATTGAGTTTGAGTGCAAAGTGAGTCGGTCCCATGCACCCCATCCCTGCCCATG mutant NA NA NA NA NA 43 48 1 0.9992032 0.9996016 0.9941577 0.9743442 0.9726775 0.9351744 NA NA 0.02732246 0.06402876 0.9842509 0.953926 NA 0.04567561 NA FALSE NA 0.032 -0.765 . synonymous_variant LOW ARHGEF5 HGNC 13209 ENST00000056217 10/15 rs201695853 1 G:0.0006 G:0 G:0.0043 NA G:0 G:0 G:0 GAC A,G 0.001151 7:144373233 ARHGEF5 HGNC Symbol protein_coding 25344 ENSG00000050327 ENSE00002471873 synonymous_variant -0.369337 0.56276 0.03231 0.706298 0.4575105 0 NA NA 0.00154446 ENSE00002392171_000 ENSE00002392171 000 1 40544202 40544371 - 30 99 41 NA NA NA NA NA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 NA NA NA NA NA NA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA natural NA NA NA NA NA 618 289 0.9875593 0.9773007 0.98243 NA NA 0.9875593 0.9773007 NA NA 0 0 NA 0.98243 NA 0 NA FALSE NA NA NA NA NA NA PPT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPT1 NA NA NA ENSG00000131238 ENSE00003790611 NA NA NA NA NA NA NA 3.752072e-05 FALSE NA ENSE00002392171_002 ENSE00002392171 002 1 40544202 40544371 - 30 99 41 C T 40544235 1441 137 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCAGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078562 40078563 40078563 exon -4 0.969697 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCAGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 270 104 1 0.9984762 0.9992381 NA NA 0.9875593 0.9773007 NA NA 0.01244074 0.02117557 NA 0.98243 NA 0.01680815 NA FALSE NA 0.001 -1.434 . synonymous_variant LOW PPT1 HGNC 9325 ENST00000433473 7/9 1 NA CCG C,T 1.647e-05 1:40078563 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 synonymous_variant 1.034225 0.69264 0.09038 0.712529 0.7112785 0 3.752072e-05 FALSE 1.62501e-05 ENSE00002392171_003 ENSE00002392171 003 1 40544202 40544371 - 30 99 41 G A 40544236 1442 136 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTTGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078563 40078564 40078564 exon -5 0.959596 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTTGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 204 70 1 1 1 NA NA 0.9875593 0.9773007 NA NA 0.01244074 0.02269932 NA 0.98243 NA 0.01757003 NA FALSE NA 1 7.506 . missense_variant MODERATE PPT1 HGNC 9325 ENST00000433473 7/9 1 deleterious(0) probably_damaging(0.977) NA CGA G,A 2.471e-05 1:40078564 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 missense_variant 6.185928 0.92521 0.91347 0.712529 0.9989129 0 3.752072e-05 FALSE 1.21879e-05 ENSE00002392171_004 ENSE00002392171 004 1 40544202 40544371 - 30 99 41 T A 40544248 1443 124 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGTCCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078575 40078576 40078576 exon -17 0.8383838 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGTCCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 63 79 1 1 1 NA NA 0.9875593 0.9773007 NA NA 0.01244074 0.02269932 NA 0.98243 NA 0.01757003 NA FALSE NA 1 5.967 . missense_variant MODERATE PPT1 HGNC 9325 ENST00000433473 7/9 rs576786638 1 tolerated(0.56) possibly_damaging(0.847) NA GTC T,A 8.236e-06 1:40078576 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 missense_variant 2.89 0.91873 0.89735 0.712529 0.6555442 0 3.752072e-05 FALSE 4.0623e-06 ENSE00002392171_008 ENSE00002392171 008 1 40544202 40544371 - 30 99 41 T C 40544279 1447 93 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGGTGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078606 40078607 40078607 exon -48 0.5252525 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGGTGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 28 640 0.9876159 1 0.9938079 NA NA 0.9875593 0.9773007 NA NA 5.661383e-05 0.02269932 NA 0.98243 NA 0.01137797 NA FALSE NA 1 5.939 . missense_variant MODERATE PPT1 HGNC 9325 ENST00000433473 7/9 1 deleterious(0) benign(0.268) NA ATC T,C 8.236e-06 1:40078607 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 missense_variant 2.376825 0.90262 0.88828 0.712529 0.9724996 0 3.752072e-05 FALSE 4.06187e-06 ENSE00002392171_009 ENSE00002392171 009 1 40544202 40544371 - 30 99 41 C T 40544282 1448 90 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTATGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078609 40078610 40078610 exon 49 0.4949495 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTATGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 230 76 0.985574 0.9979133 0.9917436 NA NA 0.9875593 0.9773007 NA NA -0.001985279 0.02061264 NA 0.98243 NA 0.009313679 NA FALSE NA 1 7.502 . missense_variant MODERATE PPT1 HGNC 9325 ENST00000433473 7/9 rs375190067 1 deleterious(0) probably_damaging(0.993) NA T:0 T:0.0001 ACA C,T 4.118e-05 1:40078610 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 missense_variant 6.958175 0.95215 0.93809 0.712529 0.9983725 0 3.752072e-05 FALSE 7.71806e-05 ENSE00002392171_011 ENSE00002392171 011 1 40544202 40544371 - 30 99 41 C G 40544301 1450 71 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTCATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078628 40078629 40078629 exon 30 0.3030303 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTCATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 1011 37 0.9988957 0.9478983 0.973397 NA NA 0.9875593 0.9773007 NA NA 0.01133647 -0.02940239 NA 0.98243 NA -0.009032959 NA FALSE NA 0.992 0.232 . synonymous_variant LOW PPT1 HGNC 9325 ENST00000433473 7/9 1 NA TCA C,G 3.295e-05 1:40078629 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 synonymous_variant 1.544744 0.86482 0.67275 0.712529 0.8303914 0 3.752072e-05 FALSE 7.7173e-05 ENSE00002392171_015 ENSE00002392171 015 1 40544202 40544371 - 30 99 41 T C 40544323 1454 49 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAGTGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078650 40078651 40078651 exon 8 0.08080808 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAGTGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 1498 1226 0.9988606 0.999871 0.9993658 NA NA 0.9875593 0.9773007 NA NA 0.01130138 0.0225703 NA 0.98243 NA 0.01693584 NA FALSE NA 1 5.996 . missense_variant MODERATE PPT1 HGNC 9325 ENST00000433473 7/9 rs568730410 1 deleterious(0.01) probably_damaging(0.924) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATT T,C 4.118e-05 1:40078651 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 missense_variant 4.44953 0.94098 0.91299 0.77792 0.9979815 0 3.752072e-05 FALSE 2.84303e-05 ENSE00002392171_018 ENSE00002392171 018 1 40544202 40544371 - 30 99 41 C G 40544330 1457 42 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGCGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078657 40078658 40078658 exon 1 0.01010101 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGCGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 477 19 0.9838712 1 0.9919356 NA NA 0.9875593 0.9773007 NA NA -0.003688029 0.02269932 NA 0.98243 NA 0.009505648 NA FALSE NA 0.097 0.474 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:40078658 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 missense_variant -0.022783 0.24305 0.22755 0.77792 0.6336517 0 3.752072e-05 FALSE 1.62468e-05 ENSE00002392171_019 ENSE00002392171 019 1 40544202 40544371 - 30 99 41 C T 40544330 1458 42 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGAGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078657 40078658 40078658 exon 1 0.01010101 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGAGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 102 248 1 0.9978223 0.9989111 NA NA 0.9875593 0.9773007 NA NA 0.01244074 0.0205216 NA 0.98243 NA 0.01648117 NA FALSE NA 0.097 0.474 NA NA NA PPT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPT1 NA NA NA ENSG00000131238 ENSE00003790611 missense_variant -0.399984 0.23832 0.1669 0.77792 0.4385014 0 3.752072e-05 FALSE 3.65553e-05 ENSE00002392171_020 ENSE00002392171 020 1 40544202 40544371 - 30 99 41 A G 40544338 1459 34 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTCCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078665 40078666 40078666 upstr_intron -8 -0.1707317 CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTCCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 165 38 0.9840061 1 0.9920031 NA NA 0.9875593 0.9773007 NA NA -0.003553125 0.02269932 NA 0.98243 NA 0.009573099 NA FALSE NA 0.994 2.066 . splice_region_variant&intron_variant LOW PPT1 HGNC 9325 ENST00000433473 6/8 1 NA GAA A,G 1.647e-05 1:40078666 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 splice_region_variant 0.23056 0.358 0.53148 0 0.8188085 0.222104 3.752072e-05 FALSE 8.12315e-06 ENSE00002392171_023 ENSE00002392171 023 1 40544202 40544371 - 30 99 41 A G 40544361 1462 11 CTGATGGTAACGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 40078688 40078689 40078689 upstr_intron -31 -0.7317073 CTGATGGTAACGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA mutant NA NA NA NA NA 792 43 1 1 1 NA NA 0.9875593 0.9773007 NA NA 0.01244074 0.02269932 NA 0.98243 NA 0.01757003 NA FALSE NA 0.005 0.964 . intron_variant MODIFIER PPT1 HGNC 9325 ENST00000433473 6/8 rs372377037 1 NA G:0.0002 G:0 CAT A,G 3.295e-05 1:40078689 PPT1 HGNC Symbol protein_coding 26266 ENSG00000131238 ENSE00003790611 intron_variant 1.074053 0.14034 0.12641 0 0.8697778 0.0682238 3.752072e-05 FALSE 1.62629e-05 ENSE00002392171_BRK ENSE00002392171 BRK 1 40544202 40544371 - 30 99 41 A,G; T,T NA NA NA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCTTGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGCCGAGACACTACTTAGGCCACATGCCAGGA 40078529 40078699 NA NA NA NA NA NA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCTTGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGCCGAGACACTACTTAGGCCACATGCCAGGA CTGATGGTAATGACCTTAGGTGTTGCTGGCCTTTCTTTCAGGGTATCAATGAGTCCTACAAGAAAAACCTGATGGCCCTGAAGAAGTTTGTGATGGTGAAATTCCTCAATGATTCCATTGTGGACCCTGTAGATTCGGAGGTGAGACACTACTTAGGCCACATGCCAGGA control NA NA NA NA NA 251 135 0.006047283 0.003757229 0.004902256 NA NA 0.9875593 0.9773007 NA NA -0.981512 -0.9735434 NA 0.98243 NA -0.9775277 NA TRUE NA NA NA NA NA NA PPT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPT1 NA NA NA ENSG00000131238 ENSE00003790611 NA NA NA NA NA NA NA 3.752072e-05 FALSE NA ENSE00002392795_000 ENSE00002392795 000 2 238643854 238644023 + 57 66 47 NA NA NA NA NA CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 NA NA NA NA NA NA CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG natural 84 128 0.843447 0.85 0.8467235 1006 548 0.9584546 0.9531623 0.9558085 0.843447 0.85 0.9584546 0.9531623 0 0 0 0 0.8467235 0.9558085 0 0 0 FALSE FALSE NA NA NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP1 NA NA NA ENSG00000124831 ENSE00003484739 NA NA NA NA NA NA NA 0.3655125 FALSE NA ENSE00002392795_001 ENSE00002392795 001 2 238643854 238644023 + 57 66 47 T C 238643864 5886 11 CTGGGCACTCCTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735220 237735221 237735221 upstr_intron -47 -0.8070175 CTGGGCACTCCTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 109 383 0.9557674 0.9831935 0.9694804 0.843447 0.85 0.9584546 0.9531623 NA NA -0.002687221 0.03003116 0.8467235 0.9558085 NA 0.01367197 NA FALSE NA 0 -0.242 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA CTT T,C 1.66e-05 2:237735221 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 0.234105 0.13101 0.00524 0.069865 0.5772411 0.0539985 0.3655125 FALSE 8.70133e-06 ENSE00002392795_002 ENSE00002392795 002 2 238643854 238644023 + 57 66 47 A G 238643872 5887 19 CTGGGCACTCTTGGAGAAGGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735228 237735229 237735229 upstr_intron -39 -0.6666667 CTGGGCACTCTTGGAGAAGGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 381 279 0.9263719 0.9811098 0.9537408 0.843447 0.85 0.9584546 0.9531623 NA NA -0.0320827 0.02794743 0.8467235 0.9558085 NA -0.002067633 NA FALSE NA 0 0.016 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs200659402 1 G:0.0016 G:0.0061 G:0 NA G:0 G:0 G:0 G:0.008 G:0 AAG A,G 0.0005811 2:237735229 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 1.308434 0.19651 0.0515 0.069865 0.8316931 0.0539985 0.3655125 FALSE 0.000456882 ENSE00002392795_003 ENSE00002392795 003 2 238643854 238644023 + 57 66 47 C A 238643880 5888 27 CTGGGCACTCTTGGAGAAAGGAAGAGAGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735236 237735237 237735237 upstr_intron -31 -0.5263158 CTGGGCACTCTTGGAGAAAGGAAGAGAGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 124 502 0.995948 1 0.997974 0.843447 0.85 0.9584546 0.9531623 NA NA 0.03749343 0.04683765 0.8467235 0.9558085 NA 0.04216554 NA FALSE NA 0 -2.261 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237735237 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 0.416767 0.16741 0.0132 0.069865 0.8819503 0.0539985 0.3655125 FALSE NA ENSE00002392795_004 ENSE00002392795 004 2 238643854 238644023 + 57 66 47 C T 238643880 5889 27 CTGGGCACTCTTGGAGAAAGGAAGAGTGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735236 237735237 237735237 upstr_intron -31 -0.5263158 CTGGGCACTCTTGGAGAAAGGAAGAGTGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 225 97 0.9977843 0.9806394 0.9892118 0.843447 0.85 0.9584546 0.9531623 NA NA 0.03932963 0.02747709 0.8467235 0.9558085 NA 0.03340336 NA FALSE NA 0 -2.261 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP1 NA NA NA ENSG00000124831 ENSE00003484739 intron_variant 0.316226 0.13184 0.0112 0.069865 0.9294732 0.0539985 0.3655125 FALSE NA ENSE00002392795_006 ENSE00002392795 006 2 238643854 238644023 + 57 66 47 G A 238643881 5891 28 CTGGGCACTCTTGGAGAAAGGAAGAGCACCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735237 237735238 237735238 upstr_intron -30 -0.5087719 CTGGGCACTCTTGGAGAAAGGAAGAGCACCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 639 10 0.9129768 1 0.9564884 0.843447 0.85 0.9584546 0.9531623 NA NA -0.04547778 0.04683765 0.8467235 0.9558085 NA 0.0006799388 NA FALSE NA 0 -1.422 NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237735238 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 0.397113 0.09736 0.01234 0.069865 0.9218116 0.0539985 0.3655125 FALSE NA ENSE00002392795_009 ENSE00002392795 009 2 238643854 238644023 + 57 66 47 C T 238643887 5894 34 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATTCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735243 237735244 237735244 upstr_intron -24 -0.4035088 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATTCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 1419 38 0.9933015 1 0.9966508 0.843447 0.85 0.9584546 0.9531623 NA NA 0.03484691 0.04683765 0.8467235 0.9558085 NA 0.04084228 NA FALSE NA 0.004 -0.525 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs566733521 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 TCC C,T 0.0004816 2:237735244 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 1.836102 0.87376 0.01879 0.069865 0.8392067 0.0749711 0.3655125 FALSE 0.000407133 ENSE00002392795_010 ENSE00002392795 010 2 238643854 238644023 + 57 66 47 C T 238643888 5895 35 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCTTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735244 237735245 237735245 upstr_intron -23 -0.3859649 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCTTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 54 425 0.9669217 0.8760843 0.921503 0.843447 0.85 0.9584546 0.9531623 NA NA 0.008467119 -0.07707806 0.8467235 0.9558085 NA -0.03430547 NA FALSE NA 0.987 2.59 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs535307584 1 T:0.0006 T:0 T:0 NA T:0 T:0 T:0.0031 CCT C,T 0.0004816 2:237735245 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 2.150096 0.97621 0.94734 0.069865 0.8339416 0.945657 0.3655125 FALSE 0.000411154 ENSE00002392795_013 ENSE00002392795 013 2 238643854 238644023 + 57 66 47 G T 238643904 5898 51 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGTTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735260 237735261 237735261 upstr_intron -7 -0.1052632 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGTTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 240 371 1 1 1 0.843447 0.85 0.9584546 0.9531623 NA NA 0.04154538 0.04683765 0.8467235 0.9558085 NA 0.04419152 NA FALSE NA 0 -0.274 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA GGT G,T 8.305e-06 2:237735261 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 splice_region_variant -0.035521 0.13737 0.02444 0.069865 0.4220273 0.220421 0.3655125 FALSE 4.08477e-06 ENSE00002392795_014 ENSE00002392795 014 2 238643854 238644023 + 57 66 47 C T 238643906 5899 53 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTTGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735262 237735263 237735263 upstr_intron -5 -0.07017544 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTTGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 12 25 1 1 1 0.843447 0.85 0.9584546 0.9531623 NA NA 0.04154538 0.04683765 0.8467235 0.9558085 NA 0.04419152 NA FALSE NA 0.002 0.172 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA TCG C,T 1.661e-05 2:237735263 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 splice_region_variant 0.302629 0.18248 0.03907 0.069865 0.4272846 0.226535 0.3655125 FALSE 3.67464e-05 ENSE00002392795_016 ENSE00002392795 016 2 238643854 238644023 + 57 66 47 G T 238643907 5901 54 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCTCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735263 237735264 237735264 upstr_intron -4 -0.05263158 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCTCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 126 1078 0.003897532 0 0.001948766 0.843447 0.85 0.9584546 0.9531623 NA NA -0.9545571 -0.9531623 0.8467235 0.9558085 NA -0.9538597 NA TRUE NA 0.001 -0.668 NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237735264 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 splice_region_variant -0.272818 0.11124 0.03531 0.069865 0.4800916 0.216105 0.3655125 FALSE 1.63663e-05 ENSE00002392795_019 ENSE00002392795 019 2 238643854 238644023 + 57 66 47 T A 238643935 5904 82 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCATCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735291 237735292 237735292 exon 25 0.3787879 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCATCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 28 162 0.8 0.890077 0.8450385 0.843447 0.85 0.9584546 0.9531623 NA NA -0.1584546 -0.06308537 0.8467235 0.9558085 NA -0.11077 NA FALSE NA 0.004 0.226 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs566731381 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CTT T,A 8.305e-06 2:237735292 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 missense_variant 0.686912 0.19667 0.04026 0 0.9210963 0 0.3655125 FALSE 4.07418e-06 ENSE00002392795_021 ENSE00002392795 021 2 238643854 238644023 + 57 66 47 G A 238643938 5906 85 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCAGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735294 237735295 237735295 exon 28 0.4242424 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCAGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 408 81 0.8003949 0.8 0.8001974 0.843447 0.85 0.9584546 0.9531623 NA NA -0.1580598 -0.1531623 0.8467235 0.9558085 NA -0.155611 NA FALSE NA 0 -0.211 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA CGG G,A 3.322e-05 2:237735295 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 missense_variant -0.059201 0.16962 0.0605 0 0.6054101 0 0.3655125 FALSE 2.85265e-05 ENSE00002392795_022 ENSE00002392795 022 2 238643854 238644023 + 57 66 47 A G 238643944 5907 91 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGGCCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735300 237735301 237735301 exon -33 0.5151515 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGGCCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 185 191 0 0 0 0.843447 0.85 0.9584546 0.9531623 NA NA -0.9584546 -0.9531623 0.8467235 0.9558085 NA -0.9558085 NA TRUE NA 0.629 0.63 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA GAC G,G 8.305e-06 2:237735301 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 missense_variant 0.489446 0.12275 0.02128 0 0.3216623 0 0.3655125 FALSE 4.07501e-06 ENSE00002392795_023 ENSE00002392795 023 2 238643854 238644023 + 57 66 47 G A 238643948 5908 95 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCAACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735304 237735305 237735305 exon -29 0.5757576 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCAACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 1626 596 0.8133348 0.8391859 0.8262604 0.843447 0.85 0.9584546 0.9531623 NA NA -0.1451198 -0.1139764 0.8467235 0.9558085 NA -0.1295481 NA FALSE NA 1 2.584 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 COSM1482933 1 NA CGA G,A 8.305e-06 2:237735305 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 missense_variant 0.314832 0.35746 0.61665 0 0.8543246 0 0.3655125 FALSE 1.63043e-05 ENSE00002392795_024 ENSE00002392795 024 2 238643854 238644023 + 57 66 47 C T 238643950 5909 97 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGATGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735306 237735307 237735307 exon -27 0.6060606 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGATGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 230 607 0.8003443 0.8004165 0.8003804 0.843447 0.85 0.9584546 0.9531623 NA NA -0.1581103 -0.1527459 0.8467235 0.9558085 NA -0.1554281 NA FALSE NA 0.888 1.192 NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237735307 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 missense_variant 0.179393 0.18899 0.30943 0 0.9945195 0 0.3655125 FALSE 3.66963e-05 ENSE00002392795_026 ENSE00002392795 026 2 238643854 238644023 + 57 66 47 C T 238643958 5911 105 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGTACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735314 237735315 237735315 exon -19 0.7272727 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGTACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 152 210 0.8371808 0.9390051 0.8880929 0.843447 0.85 0.9584546 0.9531623 NA NA -0.1212738 -0.01415726 0.8467235 0.9558085 NA -0.06771555 NA FALSE NA 0.986 -0.086 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA GCA C,T 8.305e-06 2:237735315 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 synonymous_variant 0.098794 0.15015 0.06576 0.600919 0.7755429 0 0.3655125 FALSE NA ENSE00002392795_027 ENSE00002392795 027 2 238643854 238644023 + 57 66 47 C A 238643964 5912 111 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCAGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735320 237735321 237735321 exon -13 0.8181818 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCAGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 709 56 0.9630495 0.8044952 0.8837724 0.843447 0.85 0.9584546 0.9531623 NA NA 0.004594871 -0.1486671 0.8467235 0.9558085 NA -0.07203613 NA FALSE NA 0.12 -0.864 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237735321 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 synonymous_variant 0.195306 0.15108 0.08853 0.600919 0.6600276 0 0.3655125 FALSE 4.8962e-05 ENSE00002392795_028 ENSE00002392795 028 2 238643854 238644023 + 57 66 47 C T 238643964 5913 111 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCTGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735320 237735321 237735321 exon -13 0.8181818 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCTGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 107 217 0.8 0.8011641 0.8005821 0.843447 0.85 0.9584546 0.9531623 NA NA -0.1584546 -0.1519982 0.8467235 0.9558085 NA -0.1552264 NA FALSE NA 0.12 -0.864 NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LRRFIP1 NA NA NA ENSG00000124831 ENSE00003484739 synonymous_variant 0.169854 0.13545 0.02987 0.600919 0.8036521 0 0.3655125 FALSE 4.08017e-05 ENSE00002392795_030 ENSE00002392795 030 2 238643854 238644023 + 57 66 47 C T 238643969 5915 116 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTTCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735325 237735326 237735326 exon -8 0.8939394 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTTCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 194 49 1 1 1 0.843447 0.85 0.9584546 0.9531623 NA NA 0.04154538 0.04683765 0.8467235 0.9558085 NA 0.04419152 NA FALSE NA 0.966 3.263 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA TCC C,T 8.304e-06 2:237735326 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 missense_variant 1.096528 0.68981 0.68099 0.600919 0.9971266 0 0.3655125 FALSE 1.22472e-05 ENSE00002392795_031 ENSE00002392795 031 2 238643854 238644023 + 57 66 47 G A 238643972 5916 119 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCATGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735328 237735329 237735329 exon -5 0.9393939 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCATGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 571 18 0.9216941 0.8292746 0.8754844 0.843447 0.85 0.9584546 0.9531623 NA NA -0.0367605 -0.1238877 0.8467235 0.9558085 NA -0.0803241 NA FALSE NA 0 -0.022 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs200107772 1 A:0.0008 A:0.0008 A:0 NA A:0 A:0.001 A:0.002 A:0 A:0.0004 CGT G,A 0.0008636 2:237735329 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 missense_variant 1.149712 0.16649 0.03276 0.600919 0.9218856 0 0.3655125 FALSE 0.000858103 ENSE00002392795_033 ENSE00002392795 033 2 238643854 238644023 + 57 66 47 G A 238643984 5918 131 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCACTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735340 237735341 237735341 downstr_intron 8 1.173913 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCACTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 89 317 0.9140531 0.8488911 0.8814721 0.843447 0.85 0.9584546 0.9531623 NA NA -0.04440155 -0.1042712 0.8467235 0.9558085 NA -0.0743364 NA FALSE NA 0 -0.638 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs202120849 1 A:0.0016 A:0.0061 A:0 NA A:0 A:0 A:0 A:0.008 A:0 CGC G,A 0.0005646 2:237735341 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 splice_region_variant 0.3314 0.12669 0.04499 0.048788 0.901238 0.0814626 0.3655125 FALSE 0.000435308 ENSE00002392795_034 ENSE00002392795 034 2 238643854 238644023 + 57 66 47 G A 238643990 5919 137 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCAGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735346 237735347 237735347 downstr_intron 14 1.304348 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCAGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 379 513 0.8 0.800985 0.8004925 0.843447 0.85 0.9584546 0.9531623 NA NA -0.1584546 -0.1521773 0.8467235 0.9558085 NA -0.155316 NA FALSE NA 0 -0.585 NA NA NA LRRFIP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237735347 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 0.103946 0.18086 0.0278 0.048788 0.6871793 0.0908204 0.3655125 FALSE 0.0555835 ENSE00002392795_036 ENSE00002392795 036 2 238643854 238644023 + 57 66 47 T C 238643992 5921 139 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGCGATACCTCCTTTCCCCCGTGCCTGCTGCATG 237735210 237735380 237735348 237735349 237735349 downstr_intron 16 1.347826 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGCGATACCTCCTTTCCCCCGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 46 298 1 1 1 0.843447 0.85 0.9584546 0.9531623 NA NA 0.04154538 0.04683765 0.8467235 0.9558085 NA 0.04419152 NA FALSE NA 0.004 0.4 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs372005021 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 C:0 C:0.0001 GTG T,C 3.321e-05 2:237735349 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant -0.027601 0.21017 0.06809 0.048788 0.3449117 0.0908204 0.3655125 FALSE 1.65287e-05 ENSE00002392795_037 ENSE00002392795 037 2 238643854 238644023 + 57 66 47 C T 238644009 5922 156 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCTGTGCCTGCTGCATG 237735210 237735380 237735365 237735366 237735366 downstr_intron 33 1.717391 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCTGTGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 887 45 0.9630695 0.8027654 0.8829174 0.843447 0.85 0.9584546 0.9531623 NA NA 0.004614867 -0.150397 0.8467235 0.9558085 NA -0.07289105 NA FALSE NA 0 -1.641 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 1 NA CCG C,T 6.643e-05 2:237735366 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 0.42374 0.13034 0.03363 0.077194 0.7231044 0.071792 0.3655125 FALSE 6.83907e-05 ENSE00002392795_038 ENSE00002392795 038 2 238643854 238644023 + 57 66 47 G A 238644010 5923 157 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCATGCCTGCTGCATG 237735210 237735380 237735366 237735367 237735367 downstr_intron 34 1.73913 CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCATGCCTGCTGCATG CTGGGCACTCTTGGAGAAAGGAAGAGCGCCCATCCTGACAGTCTCTTTTGGTCGCAGGCGTCTGTGTTGGATGAAGGCAGCTTCGGTGGGACCCGACGGGGCAGCACCTCCGGCTCCCGTGCTGTAAGGCGCTTTCGGTGATACCTCCTTTCCCCCGTGCCTGCTGCATG mutant NA NA NA NA NA 214 77 0.801218 0.8 0.800609 0.843447 0.85 0.9584546 0.9531623 NA NA -0.1572366 -0.1531623 0.8467235 0.9558085 NA -0.1551995 NA FALSE NA 0.002 0.432 . intron_variant MODIFIER LRRFIP1 HGNC 6702 ENST00000289175 2/7 rs201122061 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 1.661e-05 2:237735367 LRRFIP1 HGNC Symbol protein_coding 186106 ENSG00000124831 ENSE00003484739 intron_variant 0.337615 0.20861 0.0622 0.077194 0.7216248 0.071792 0.3655125 FALSE NA ENSE00002393630_000 ENSE00002393630 000 1 167407768 167407937 - 39 81 50 NA NA NA NA NA CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 NA NA NA NA NA NA CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG natural 13 21 0.9976072 0.9954421 0.9965246 1033 477 0.9950364 0.9637674 0.9794019 0.9976072 0.9954421 0.9950364 0.9637674 0 0 0 0 0.9965246 0.9794019 0 0 0 FALSE FALSE NA NA NA NA NA CD247 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD247 NA NA NA ENSG00000198821 ENSE00003461649 NA NA NA NA NA NA NA 0.661383 FALSE NA ENSE00002393630_004 ENSE00002393630 004 1 167407768 167407937 - 39 81 50 C T 167407784 4180 154 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTATGTGTTCCTGCATGTG 167438530 167438700 167438546 167438547 167438547 downstr_intron 23 1.605263 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTATGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 273 265 1 0.9940407 0.9970204 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03027331 0.9965246 0.9794019 NA 0.01761844 NA FALSE NA 0.001 0.258 . intron_variant MODIFIER CD247 HGNC 1677 ENST00000362089 4/7 1 NA ACA C,T 8.236e-06 1:167438547 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 intron_variant 0.578294 0.23831 0.08924 0.095506 0.6992239 0.537561 0.661383 FALSE 4.06144e-06 ENSE00002393630_006 ENSE00002393630 006 1 167407768 167407937 - 39 81 50 C T 167407801 4182 137 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGAGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438563 167438564 167438564 downstr_intron 6 1.157895 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGAGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 195 170 0.9501062 1 0.9750531 0.9976072 0.9954421 0.9950364 0.9637674 NA NA -0.04493026 0.03623258 0.9965246 0.9794019 NA -0.004348841 NA FALSE NA 0 -0.9 . splice_region_variant&intron_variant LOW CD247 HGNC 1677 ENST00000362089 4/7 1 NA CCC C,T 8.236e-06 1:167438564 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 splice_region_variant 0.53043 0.16697 0.00607 0.095506 0.6301236 0.137809 0.661383 FALSE 4.06078e-06 ENSE00002393630_007 ENSE00002393630 007 1 167407768 167407937 - 39 81 50 C T 167407807 4183 131 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCAGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438569 167438570 167438570 exon -1 1 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCAGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 153 52 0.9919493 1 0.9959746 0.9976072 0.9954421 0.9950364 0.9637674 NA NA -0.003087148 0.03623258 0.9965246 0.9794019 NA 0.01657271 NA FALSE NA 1 1.432 . splice_region_variant&synonymous_variant LOW CD247 HGNC 1677 ENST00000362089 4/8 rs541120315 1 T:0.0004 T:0 T:0 NA T:0 T:0.001 T:0.001 CCG C,T 2.471e-05 1:167438570 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 splice_region_variant 1.605962 0.96997 0.70508 0.549168 0.8355143 0 0.661383 FALSE 5.68523e-05 ENSE00002393630_010 ENSE00002393630 010 1 167407768 167407937 - 39 81 50 C A 167407819 4186 119 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATTGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438581 167438582 167438582 exon -13 0.8518519 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATTGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 419 161 0.9882369 1 0.9941184 0.9976072 0.9954421 0.9950364 0.9637674 NA NA -0.006799541 0.03623258 0.9965246 0.9794019 NA 0.01471652 NA FALSE NA 0.989 0.385 rs139926301 missense_variant MODERATE CD247 HGNC 1677 ENST00000362089 4/8 rs139926301 1 tolerated(0.17) benign(0.003) NA A:0 A:0.0003 CCA C,A 4.118e-05 1:167438582 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 missense_variant 2.821866 0.96392 0.58674 0.549168 0.9637288 0 0.661383 FALSE 4.87266e-05 ENSE00002393630_011 ENSE00002393630 011 1 167407768 167407937 - 39 81 50 C T 167407830 4187 108 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGAACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438592 167438593 167438593 exon -24 0.7160494 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGAACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 53 177 1 1 1 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03623258 0.9965246 0.9794019 NA 0.02059807 NA FALSE NA 0.909 1.427 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:167438593 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 missense_variant 4.995179 0.97917 0.66081 0.549168 0.9992135 0 0.661383 FALSE 8.12117e-06 ENSE00002393630_012 ENSE00002393630 012 1 167407768 167407937 - 39 81 50 C G 167407830 4188 108 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGCACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438592 167438593 167438593 exon -24 0.7160494 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGCACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 113 117 0.97318 0.9996741 0.986427 0.9976072 0.9954421 0.9950364 0.9637674 NA NA -0.02185643 0.03590664 0.9965246 0.9794019 NA 0.007025106 NA FALSE NA 0.909 1.427 NA NA NA CD247 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD247 NA NA NA ENSG00000198821 ENSE00003461649 missense_variant 6.15626 0.98022 0.77599 0.549168 0.9950868 0 0.661383 FALSE 8.12117e-06 ENSE00002393630_014 ENSE00002393630 014 1 167407768 167407937 - 39 81 50 G A 167407833 4190 105 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCTGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438595 167438596 167438596 exon -27 0.6790123 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCTGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 146 80 1 0.9733958 0.9866979 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.009628353 0.9965246 0.9794019 NA 0.007295956 NA FALSE NA 0.077 0.943 rs144963570 missense_variant MODERATE CD247 HGNC 1677 ENST00000362089 4/8 rs144963570 1 deleterious(0.05) benign(0.007) NA A:0 A:0.0001 CGG G,A 1.647e-05 1:167438596 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 missense_variant 4.542231 0.24287 0.07592 0.676563 0.9987453 0 0.661383 FALSE 8.1211e-06 ENSE00002393630_015 ENSE00002393630 015 1 167407768 167407937 - 39 81 50 G A 167407839 4191 99 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGATGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438601 167438602 167438602 exon -33 0.6049383 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGATGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 24 57 1 1 1 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03623258 0.9965246 0.9794019 NA 0.02059807 NA FALSE NA 0 0.15 rs148513413 missense_variant MODERATE CD247 HGNC 1677 ENST00000362089 4/8 rs148513413&COSM207608 1 deleterious(0.01) possibly_damaging(0.639) A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 8.236e-05 1:167438602 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 missense_variant 6.114245 0.30941 0.02719 0.549168 0.9986589 0 0.661383 FALSE 0.000113695 ENSE00002393630_018 ENSE00002393630 018 1 167407768 167407937 - 39 81 50 C T 167407854 4194 84 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATATTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438616 167438617 167438617 exon 34 0.4197531 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATATTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 21 400 1 1 1 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03623258 0.9965246 0.9794019 NA 0.02059807 NA FALSE NA 0 -0.694 . missense_variant MODERATE CD247 HGNC 1677 ENST00000362089 4/8 rs371709798 1 tolerated(0.16) benign(0.032) NA T:0.0002 T:0 ACA C,T 1.647e-05 1:167438617 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 missense_variant 0.764174 0.15499 0.01215 0.676563 0.9438201 0 0.661383 FALSE 8.12117e-06 ENSE00002393630_019 ENSE00002393630 019 1 167407768 167407937 - 39 81 50 T C 167407856 4195 82 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGGTGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438618 167438619 167438619 exon 32 0.3950617 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGGTGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 132 920 1 0.9995437 0.9997718 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03577625 0.9965246 0.9794019 NA 0.0203699 NA FALSE NA 0.167 0.94 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:167438619 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 missense_variant 3.530852 0.3096 0.05825 0.676563 0.9923768 0 0.661383 FALSE 0.000389813 ENSE00002393630_020 ENSE00002393630 020 1 167407768 167407937 - 39 81 50 T G 167407856 4196 82 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGCTGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438618 167438619 167438619 exon 32 0.3950617 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGCTGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 143 125 1 1 1 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03623258 0.9965246 0.9794019 NA 0.02059807 NA FALSE NA 0.167 0.94 NA NA NA CD247 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD247 NA NA NA ENSG00000198821 ENSE00003461649 missense_variant 1.669361 0.31482 0.05726 0.676563 0.9575628 0 0.661383 FALSE 8.1211e-06 ENSE00002393630_022 ENSE00002393630 022 1 167407768 167407937 - 39 81 50 G A 167407858 4198 80 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTATGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438620 167438621 167438621 exon 30 0.3703704 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTATGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 284 1146 1 0.9997006 0.9998503 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03593314 0.9965246 0.9794019 NA 0.02044835 NA FALSE NA 0.029 -1.155 rs33937946 synonymous_variant LOW CD247 HGNC 1677 ENST00000362089 4/8 rs33937946 1 A:0.0595 A:0.1641 A:0.0461 NA A:0 A:0.0417 A:0.0072 A:0.1605 A:0.0377 CGT G,A 0.041 1:167438621 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 synonymous_variant 1.034001 0.20932 0.00344 0.676563 0.6350657 0 0.661383 FALSE 0.0381011 ENSE00002393630_026 ENSE00002393630 026 1 167407768 167407937 - 39 81 50 G C 167407872 4202 66 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGAGGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438634 167438635 167438635 exon 16 0.1975309 CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGAGGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 112 36 1 0.8 0.9 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 -0.1637674 0.9965246 0.9794019 NA -0.07940193 NA FALSE NA 0.06 0.227 . missense_variant MODERATE CD247 HGNC 1677 ENST00000362089 4/8 1 tolerated(0.76) benign(0.033) NA CGT G,C 8.236e-06 1:167438635 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 missense_variant 1.791001 0.51723 0.04407 0.676563 0.7820273 0 0.661383 FALSE 4.06062e-06 ENSE00002393630_030 ENSE00002393630 030 1 167407768 167407937 - 39 81 50 C T 167407915 4206 23 CCTTCTGAGGTTCCTCCGTCCTATGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438677 167438678 167438678 upstr_intron -28 -0.54 CCTTCTGAGGTTCCTCCGTCCTATGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 1872 512 0.9994491 0.9999256 0.9996874 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004412668 0.03615821 0.9965246 0.9794019 NA 0.02028544 NA FALSE NA 0 -0.873 rs34359201 intron_variant MODIFIER CD247 HGNC 1677 ENST00000362089 3/7 rs34359201 1 T:0.0090 T:0.0008 T:0.0058 NA T:0 T:0.0278 T:0.0123 T:0.0039 T:0.0262 ACA C,T 0.019 1:167438678 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 intron_variant 0.424587 0.1804 0.02096 0.095506 0.8461964 0.0657536 0.661383 FALSE 0.018306 ENSE00002393630_033 ENSE00002393630 033 1 167407768 167407937 - 39 81 50 G T 167407921 4209 17 CCTTCTGAGGTTCCTCAGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438683 167438684 167438684 upstr_intron -34 -0.66 CCTTCTGAGGTTCCTCAGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 40 31 1 1 1 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03623258 0.9965246 0.9794019 NA 0.02059807 NA FALSE NA 0 -0.976 NA NA NA CD247 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:167438684 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 intron_variant -0.147281 0.1817 0.05629 0.095506 0.7863045 0.0609644 0.661383 FALSE 1.21827e-05 ENSE00002393630_034 ENSE00002393630 034 1 167407768 167407937 - 39 81 50 A G 167407923 4210 15 CCTTCTGAGGTTCCCCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 167438685 167438686 167438686 upstr_intron -36 -0.7 CCTTCTGAGGTTCCCCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG mutant NA NA NA NA NA 29 79 1 1 1 0.9976072 0.9954421 0.9950364 0.9637674 NA NA 0.004963559 0.03623258 0.9965246 0.9794019 NA 0.02059807 NA FALSE NA 0 -1.947 . intron_variant MODIFIER CD247 HGNC 1677 ENST00000362089 3/7 1 NA GAG A,G 1.647e-05 1:167438686 CD247 HGNC Symbol protein_coding 87970 ENSG00000198821 ENSE00003461649 intron_variant 0.535446 0.14991 0.01125 0.095506 0.6824243 0.0609644 0.661383 FALSE 1.62435e-05 ENSE00002393630_BRK ENSE00002393630 BRK 1 167407768 167407937 - 39 81 50 A,G; T,T NA NA NA CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATTTGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGCCAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG 167438530 167438700 NA NA NA NA NA NA CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATTTGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGCCAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG CCTTCTGAGGTTCCTCCGTCCTGTGTCTGACACTTTCTTATCTGTTATAGGAGCTCAATCTAGGACGAAGAGAGGAGTACGATGTTTTGGACAAGAGACGTGGCCGGGACCCTGAGATGGGGGGAAAGCCGGTAGGGGTTCCTCTACCTTCCTGTGTGTTCCTGCATGTG control 10 23 0.85 0.85 0.85 NA NA NA NA NA 0.9976072 0.9954421 0.9950364 0.9637674 -0.1476072 -0.1454421 NA NA 0.9965246 0.9794019 -0.1465246 NA NA NA FALSE NA NA NA NA NA CD247 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CD247 NA NA NA ENSG00000198821 ENSE00003461649 NA NA NA NA NA NA NA 0.661383 FALSE NA ENSE00002393708_000 ENSE00002393708 000 5 118865542 118865711 + 47 87 36 NA NA NA NA NA TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC 119529846 119530016 NA NA NA NA NA NA TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC natural NA NA NA NA NA 40 59 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA HSD17B4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HSD17B4 NA NA NA ENSG00000133835 ENSE00003637583 NA NA NA NA NA NA NA 1.824632e-05 FALSE NA ENSE00002393708_012 ENSE00002393708 012 5 118865542 118865711 + 47 87 36 T C 118865621 1077 80 TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAACGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC 119529846 119530016 119529925 119529926 119529926 exon 33 0.3793103 TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAACGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC mutant NA NA NA NA NA 73 667 1 0.9978019 0.998901 NA NA 1 1 NA NA 0 -0.002198057 NA 1 NA -0.001099029 NA FALSE NA 0.992 -0.008 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HSD17B4 HGNC 5213 ENST00000509606 2/5 1 NA ATG T,C 8.237e-06 5:119529926 HSD17B4 HGNC Symbol protein_coding 184756 ENSG00000133835 ENSE00003637583 synonymous_variant 0.638686 0.89102 0.78901 0.706298 0.8903514 0 1.824632e-05 FALSE NA ENSE00002393708_018 ENSE00002393708 018 5 118865542 118865711 + 47 87 36 T A 118865646 1083 105 TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACAACTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC 119529846 119530016 119529950 119529951 119529951 exon -30 0.6666667 TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACAACTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC mutant NA NA NA NA NA 118 49 0.9661646 1 0.9830823 NA NA 1 1 NA NA -0.03383539 0 NA 1 NA -0.01691769 NA FALSE NA 0.017 0.556 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HSD17B4 HGNC 5213 ENST00000509606 2/5 COSM420441 1 NA ATC T,A 8.237e-06 5:119529951 HSD17B4 HGNC Symbol protein_coding 184756 ENSG00000133835 ENSE00003637583 missense_variant 1.187184 0.76582 0.73286 0.706298 0.8893888 0 1.824632e-05 FALSE 4.0705e-06 ENSE00002393708_021 ENSE00002393708 021 5 118865542 118865711 + 47 87 36 T C 118865654 1086 113 TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACCTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC 119529846 119530016 119529958 119529959 119529959 exon -22 0.7586207 TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACCTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC mutant NA NA NA NA NA 64 1911 1 0.9011938 0.9505969 NA NA 1 1 NA NA 0 -0.09880624 NA 1 NA -0.04940312 NA FALSE NA 0 -1.237 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER HSD17B4 HGNC 5213 ENST00000509606 2/5 1 NA CTT T,C 8.237e-06 5:119529959 HSD17B4 HGNC Symbol protein_coding 184756 ENSG00000133835 ENSE00003637583 synonymous_variant -0.302147 0.17801 0.16074 0.706298 0.7097659 0 1.824632e-05 FALSE 4.0707e-06 ENSE00002393708_025 ENSE00002393708 025 5 118865542 118865711 + 47 87 36 A C 118865689 1090 148 TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAACTTAGTATCCAAGCCACTTCCTC 119529846 119530016 119529993 119529994 119529994 downstr_intron 14 1.4 TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAACTTAGTATCCAAGCCACTTCCTC TTCCATTGTAATCAGAATAAATCTTTTTTTTTTCTTCTCCTCCTAAGGTCCAAGAAACTGGAGACATTGTCATTTCAAATGCATATGTGGATCTTGCACCAACATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTATAAAAATTAGTATCCAAGCCACTTCCTC mutant NA NA NA NA NA 33 20 0.9446034 1 0.9723017 NA NA 1 1 NA NA -0.05539664 0 NA 1 NA -0.02769832 NA FALSE NA 0 -0.921 . intron_variant&non_coding_transcript_variant MODIFIER HSD17B4 HGNC 5213 ENST00000509606 2/4 1 NA AAT A,C 2.472e-05 5:119529994 HSD17B4 HGNC Symbol protein_coding 184756 ENSG00000133835 ENSE00003637583 non_coding_transcript_exon_variant -0.201321 0.17788 0.13619 0.078448 0.5923382 0.130654 1.824632e-05 FALSE 2.03982e-05 ENSE00002393945_000 ENSE00002393945 000 7 149981809 149981978 - 33 93 44 NA NA NA NA NA GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 NA NA NA NA NA NA GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC natural 220 119 0.1653973 0.03317632 0.09928683 2675 2510 0.8272537 0.7265989 0.7769263 0.1653973 0.03317632 0.8272537 0.7265989 0 0 0 0 0.09928683 0.7769263 0 0 0 FALSE FALSE NA NA NA NA NA ACTR3C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACTR3C NA NA NA ENSG00000106526 ENSE00002491228 NA NA NA NA NA NA NA 0.001231511 FALSE NA ENSE00002393945_001 ENSE00002393945 001 7 149981809 149981978 - 33 93 44 A G 149981840 3027 139 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGCATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284750 150284751 150284751 downstr_intron 2 1.0625 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGCATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 645 1760 0.1386266 0.08312316 0.1108749 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.6886271 -0.6434757 0.09928683 0.7769263 NA -0.6660514 NA TRUE NA 1 6.638 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA TAC A,G 8.237e-06 7:150284751 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 splice_donor_variant 3.531309 0.97424 0.88399 0.078448 0.9734004 0.814102 0.001231511 FALSE 4.15244e-06 ENSE00002393945_002 ENSE00002393945 002 7 149981809 149981978 - 33 93 44 C A 149981841 3028 138 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGTTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284751 150284752 150284752 downstr_intron 1 1.03125 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGTTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 478 1736 0.0006280024 0.006335879 0.003481941 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.8266257 -0.720263 0.09928683 0.7769263 NA -0.7734443 NA TRUE NA 1 5.389 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA ACC C,A 1.647e-05 7:150284752 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 splice_donor_variant 4.360157 0.97905 0.96467 0.078448 0.9858998 0.830073 0.001231511 FALSE 8.27452e-06 ENSE00002393945_003 ENSE00002393945 003 7 149981809 149981978 - 33 93 44 T G 149981844 3029 135 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATCAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284754 150284755 150284755 exon -3 0.9784946 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATCAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 1724 155 0.9925386 0.8 0.8962693 0.1653973 0.03317632 0.8272537 0.7265989 NA NA 0.1652849 0.0734011 0.09928683 0.7769263 NA 0.119343 NA FALSE NA 1 7.235 rs183820446 downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 rs183820446 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TTA T,G 9.06e-05 7:150284755 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 2.571862 0.9769 0.94566 0.615465 0.9530711 0 0.001231511 FALSE 0.000123297 ENSE00002393945_005 ENSE00002393945 005 7 149981809 149981978 - 33 93 44 C G 149981848 3031 131 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTCTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284758 150284759 150284759 exon -7 0.9354839 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTCTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 24 1698 0.8 0.7102143 0.7551071 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.02725368 -0.01638464 0.09928683 0.7769263 NA -0.02181916 NA FALSE NA 0.587 -0.316 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 rs368172014 1 NA G:0.0007 G:0 ACA C,G 1.647e-05 7:150284759 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 synonymous_variant 1.196785 0.92506 0.27602 0.615465 0.7011394 0 0.001231511 FALSE 1.22919e-05 ENSE00002393945_007 ENSE00002393945 007 7 149981809 149981978 - 33 93 44 G A 149981852 3033 127 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCTGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284762 150284763 150284763 exon -11 0.8924731 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCTGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 543 183 0.3359306 0.4212055 0.3785681 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.4913231 -0.3053934 0.09928683 0.7769263 NA -0.3983582 NA FALSE NA 1 7.036 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA CGG G,A 5.766e-05 7:150284763 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 3.509716 0.98141 0.94435 0.615465 0.9947689 0 0.001231511 FALSE 5.72358e-05 ENSE00002393945_008 ENSE00002393945 008 7 149981809 149981978 - 33 93 44 C T 149981855 3034 124 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCATCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284765 150284766 150284766 exon -14 0.8602151 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCATCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 664 314 0.05260856 0.07301898 0.06281377 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.7746451 -0.6535799 0.09928683 0.7769263 NA -0.7141125 NA TRUE NA 1 5.339 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 rs201302236 1 T:0.0004 T:0 T:0 NA T:0 T:0.002 T:0 T:0.0007 T:0.0009 ACG C,T 0.00131 7:150284766 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 7.40236 0.97988 0.90489 0.615465 0.9991224 0 0.001231511 FALSE 0.00137734 ENSE00002393945_010 ENSE00002393945 010 7 149981809 149981978 - 33 93 44 C T 149981858 3036 121 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCAGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284768 150284769 150284769 exon -17 0.827957 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCAGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 56 114 0.01095143 0 0.005475714 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.8163023 -0.7265989 0.09928683 0.7769263 NA -0.7714506 NA TRUE NA 0.764 5.339 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 rs201605081 1 NA CCG C,T 4.942e-05 7:150284769 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 7.455751 0.98024 0.8697 0.615465 0.9993581 0 0.001231511 FALSE 4.08123e-05 ENSE00002393945_011 ENSE00002393945 011 7 149981809 149981978 - 33 93 44 G A 149981859 3037 120 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGTGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284769 150284770 150284770 exon -18 0.8172043 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGTGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 309 1755 0.1327208 0.007627965 0.07017436 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.6945329 -0.7189709 0.09928683 0.7769263 NA -0.7067519 NA TRUE NA 0.587 1.168 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA CGC G,A 8.237e-06 7:150284770 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 7.173308 0.96038 0.60852 0.615465 0.9984751 0 0.001231511 FALSE NA ENSE00002393945_013 ENSE00002393945 013 7 149981809 149981978 - 33 93 44 C T 149981865 3039 114 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCAATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284775 150284776 150284776 exon -24 0.7526882 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCAATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 401 568 0.0007487797 0.02207841 0.01141359 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.8265049 -0.7045205 0.09928683 0.7769263 NA -0.7655127 NA TRUE NA 1 7.036 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 rs369988101 1 NA T:0.0007 T:0 TCG C,T 1.647e-05 7:150284776 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 6.885431 0.98087 0.93861 0.615465 0.9991299 0 0.001231511 FALSE 1.2233e-05 ENSE00002393945_017 ENSE00002393945 017 7 149981809 149981978 - 33 93 44 A G 149981882 3043 97 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAACACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284792 150284793 150284793 exon -41 0.5698925 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAACACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 35 395 0.8 0.8309778 0.8154889 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.02725368 0.1043789 0.09928683 0.7769263 NA 0.03856263 NA FALSE NA 1 8.387 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 rs543022883 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAT A,G 8.236e-06 7:150284793 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 5.764177 0.97689 0.95981 0.615465 0.9983458 0 0.001231511 FALSE 4.0708e-06 ENSE00002393945_018 ENSE00002393945 018 7 149981809 149981978 - 33 93 44 T G 149981888 3044 91 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGCAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284798 150284799 150284799 exon -47 0.5053763 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGCAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 580 51 0.008951064 0.09621651 0.05258379 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.8183026 -0.6303824 0.09928683 0.7769263 NA -0.7243425 NA TRUE NA 1 7.235 rs187747289 downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 rs187747289 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TTC T,G 4.118e-05 7:150284799 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 2.533962 0.9769 0.94566 0.615465 0.9903254 0 0.001231511 FALSE 2.03557e-05 ENSE00002393945_019 ENSE00002393945 019 7 149981809 149981978 - 33 93 44 C G 149981911 3045 68 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGACTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284821 150284822 150284822 exon 24 0.2580645 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGACTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 410 194 0.993584 1 0.996792 0.1653973 0.03317632 0.8272537 0.7265989 NA NA 0.1663304 0.2734011 0.09928683 0.7769263 NA 0.2198657 NA FALSE NA 0.201 -0.779 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA ACT C,G 8.236e-06 7:150284822 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 1.792144 0.93991 0.14952 0.615465 0.971273 0 0.001231511 FALSE 4.09216e-06 ENSE00002393945_020 ENSE00002393945 020 7 149981809 149981978 - 33 93 44 C T 149981914 3046 65 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATAGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284824 150284825 150284825 exon 21 0.2258065 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATAGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 427 401 0.0007031197 0.0007984488 0.0007507843 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.8265506 -0.7258005 0.09928683 0.7769263 NA -0.7761755 NA TRUE NA 0.998 0.973 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA CCA C,T 8.236e-06 7:150284825 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 2.161251 0.93559 0.58261 0.615465 0.9229035 0 0.001231511 FALSE 4.09661e-06 ENSE00002393945_021 ENSE00002393945 021 7 149981809 149981978 - 33 93 44 A C 149981915 3047 64 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTAGGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284825 150284826 150284826 exon 20 0.2150538 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTAGGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 1594 916 0.01639725 0.0623848 0.03939102 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.8108564 -0.6642141 0.09928683 0.7769263 NA -0.7375353 NA TRUE NA 1 3.315 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA CAT A,C 8.236e-06 7:150284826 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 2.013185 0.9589 0.79278 0.615465 0.8713857 0 0.001231511 FALSE 8.19296e-06 ENSE00002393945_022 ENSE00002393945 022 7 149981809 149981978 - 33 93 44 T C 149981916 3048 63 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTGTGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284826 150284827 150284827 exon 19 0.2043011 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTGTGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 529 346 0.9802623 0.9043618 0.942312 0.1653973 0.03317632 0.8272537 0.7265989 NA NA 0.1530086 0.1777629 0.09928683 0.7769263 NA 0.1653858 NA FALSE NA 1 7.235 rs116882544 downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 rs116882544&COSM4004368 1 C:0.0078 C:0 C:0.0259 NA C:0.0208 C:0 C:0 ATA T,C 0.007141 7:150284827 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 missense_variant 1.204042 0.97618 0.93475 0.615465 0.6845533 0 0.001231511 FALSE 0.00896922 ENSE00002393945_025 ENSE00002393945 025 7 149981809 149981978 - 33 93 44 C T 149981935 3051 44 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAATTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284845 150284846 150284846 upstr_intron -1 0 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAATTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 1017 795 0.02673885 0.0004024405 0.01357065 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.8005148 -0.7261965 0.09928683 0.7769263 NA -0.7633556 NA TRUE NA 1 7.036 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA ACT C,T 8.237e-06 7:150284846 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 splice_acceptor_variant 4.208176 0.98519 0.96231 0.162113 0.9902748 0.83201 0.001231511 FALSE 8.28651e-06 ENSE00002393945_027 ENSE00002393945 027 7 149981809 149981978 - 33 93 44 T C 149981943 3053 36 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATGCAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284853 150284854 150284854 upstr_intron -9 -0.1818182 GAGAGAAATGTGTAATGTTTCTTTTATATTGATATGCAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 826 668 0.04121435 0.2102923 0.1257533 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.7860393 -0.5163066 0.09928683 0.7769263 NA -0.651173 NA TRUE NA 0 -0.886 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA GTA T,C 4.118e-05 7:150284854 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 intron_variant 0.141356 0.1243 0.03323 0.078448 0.6562375 0.046323 0.001231511 FALSE 4.22023e-05 ENSE00002393945_028 ENSE00002393945 028 7 149981809 149981978 - 33 93 44 A G 149981950 3054 29 GAGAGAAATGTGTAATGTTTCTTTTATACTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284860 150284861 150284861 upstr_intron -16 -0.3409091 GAGAGAAATGTGTAATGTTTCTTTTATACTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 60 293 0 0 0 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.8272537 -0.7265989 0.09928683 0.7769263 NA -0.7769263 NA TRUE NA 0.008 3.149 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA AAT A,G 2.471e-05 7:150284861 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 intron_variant 0.003763 0.13736 0.10797 0.078448 0.6523059 0.046323 0.001231511 FALSE 1.28459e-05 ENSE00002393945_030 ENSE00002393945 030 7 149981809 149981978 - 33 93 44 T C 149981964 3056 15 GAGAGAAATGTGTAGTGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284874 150284875 150284875 upstr_intron -30 -0.6590909 GAGAGAAATGTGTAGTGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 48 329 0.01683367 0.01016742 0.01350054 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.81042 -0.7164315 0.09928683 0.7769263 NA -0.7634257 NA TRUE NA 0.016 0.502 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA ATT T,C 8.238e-06 7:150284875 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 intron_variant 1.364672 0.12327 0.03239 0.078448 0.9268409 0.0455939 0.001231511 FALSE 4.39352e-06 ENSE00002393945_031 ENSE00002393945 031 7 149981809 149981978 - 33 93 44 A C 149981968 3057 11 GAGAGAAATGGGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 150284878 150284879 150284879 upstr_intron -34 -0.75 GAGAGAAATGGGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 84 1395 0.1096237 0 0.05481187 0.1653973 0.03317632 0.8272537 0.7265989 NA NA -0.7176299 -0.7265989 0.09928683 0.7769263 NA -0.7221144 NA TRUE NA 0 0.725 . downstream_gene_variant MODIFIER ACTR3C HGNC 37282 ENST00000477871 1 NA CAC A,C 8.238e-06 7:150284879 ACTR3C HGNC Symbol protein_coding 79809 ENSG00000106526 ENSE00002491228 intron_variant 1.422639 0.17863 0.08839 0.078448 0.8693746 0.0528747 0.001231511 FALSE 4.46887e-06 ENSE00002393945_BRK ENSE00002393945 BRK 7 149981809 149981978 - 33 93 44 A,G; T,T NA NA NA GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCTTTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGCCATGAGCTGCATGGGTAAGGTACTTTGATTTC 150284719 150284889 NA NA NA NA NA NA GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCTTTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGCCATGAGCTGCATGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATATACAATTCAGTTTGCCAACCCAGACTCTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGTCCGCTGTATAAGGTATGAGCTGCATGGGTAAGGTACTTTGATTTC control 13 135 0.85 0.85 0.85 NA NA NA NA NA 0.1653973 0.03317632 0.8272537 0.7265989 0.6846027 0.8168237 NA NA 0.09928683 0.7769263 0.7507132 NA NA NA FALSE NA NA NA NA NA ACTR3C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACTR3C NA NA NA ENSG00000106526 ENSE00002491228 NA NA NA NA NA NA NA 0.001231511 FALSE NA ENSE00002394108_000 ENSE00002394108 000 9 112629721 112629890 + 50 81 39 NA NA NA NA NA GTCTAATAATGGAATAGGTTCCTGGGATCAGCTGCTTACCTTGGAATGCTGCAGCAGAAGTATCTGCTCGTCAAGCTGTTGTCGCTTGCCTTCTATTTCAGTCTGCCTCTTTCTTTTTTCCTTGAAAATAAAGAGACAGAGGCTGTAAGAGTGGGTGGGTGTTGGCTCCA 109867440 109867610 NA NA NA NA NA NA TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC natural 32 26 0.9946519 0.9883815 0.9915167 1980 4341 0.9967911 0.9932601 0.9950256 0.9946519 0.9883815 0.9967911 0.9932601 0 0 0 0 0.9915167 0.9950256 0 0 0 FALSE FALSE NA NA NA NA NA PALM2-AKAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PALM2-AKAP2 NA NA NA ENSG00000157654 ENSE00003481429 NA NA NA NA NA NA NA 0.06651795 FALSE NA ENSE00002394108_BRK ENSE00002394108 BRK 9 112629721 112629890 + 50 81 39 A,G; T,T NA NA NA GTCTAATAATGGAATAGGTTCCTGGGATCAGCTGCTTGGCTTGGAATGCTGCAGCAGAAGTATCTGCTCGTCAAGCTGTTGTCGCTTGCCTTCTATTTCAGTCTGCCTCTTTCTTTTTTCAATGAAAATAAAGAGACAGAGGCTGTAAGAGTGGGTGGGTGTTGGCTCCA 109867440 109867610 NA NA NA NA NA NA TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCATTGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGCCAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC control 248 47 0 0 0 NA NA NA NA NA 0.9946519 0.9883815 0.9967911 0.9932601 -0.9946519 -0.9883815 NA NA 0.9915167 0.9950256 -0.9915167 NA NA NA TRUE NA NA NA NA NA PALM2-AKAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PALM2-AKAP2 NA NA NA ENSG00000157654 ENSE00003481429 NA NA NA NA NA NA NA 0.06651795 FALSE NA ENSE00002394124_000 ENSE00002394124 000 7 99811304 99811473 + 54 72 44 NA NA NA NA NA GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 NA NA NA NA NA NA GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT natural 350 478 0.8844412 0.8637844 0.8741128 3328 1379 0.8113479 0.8188873 0.8151176 0.8844412 0.8637844 0.8113479 0.8188873 0 0 0 0 0.8741128 0.8151176 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003550551 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00002394124_007 ENSE00002394124 007 7 99811304 99811473 + 54 72 44 C A 99811374 2100 71 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTATTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213750 100213751 100213751 exon 17 0.2361111 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTATTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 111 1740 0.744792 0.7588959 0.751844 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.06655588 -0.05999141 0.8741128 0.8151176 NA -0.06327365 NA FALSE NA 0.463 1.128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003550551 missense_variant 3.625053 0.88806 0.31345 0.75658 0.9726431 0 NA NA 4.06095e-06 ENSE00002394124_011 ENSE00002394124 011 7 99811304 99811473 + 54 72 44 G C 99811389 2104 86 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCCCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213765 100213766 100213766 exon 32 0.4444444 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCCCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 360 1760 0.8038815 0.6043246 0.7041031 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.007466395 -0.2145627 0.8741128 0.8151176 NA -0.1110145 NA FALSE NA 0.052 0.239 NA NA NA GATS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CASTOR3 NA NA NA ENSG00000239521 ENSE00003550551 missense_variant 0.658327 0.20352 0.00931 0.75658 0.7699586 0 NA NA 1.2183e-05 ENSE00002394124_BRK ENSE00002394124 BRK 7 99811304 99811473 + 54 72 44 A,G; T,T NA NA NA GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTTTCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGCCGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 NA NA NA NA NA NA GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTTTCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGCCGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT control 43 152 0 0 0 NA NA NA NA NA 0.8844412 0.8637844 0.8113479 0.8188873 -0.8844412 -0.8637844 NA NA 0.8741128 0.8151176 -0.8741128 NA NA NA TRUE NA NA NA NA NA GATS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CASTOR3 NA NA NA ENSG00000239521 ENSE00003550551 NA NA NA NA NA NA NA NA NA NA ENSE00002394315_000 ENSE00002394315 000 6 161807788 161807957 - 38 84 48 NA NA NA NA NA GGAGCCCTGCTTGGAGGAATGAGTAGGGCATTCTGTACCTGAGTAGTTGTTCCTGAGGCTTCAAATACGGCACTGCACTCCCCTTCATGGTACGCTTCTTTACATTCCCGGCAGAAGGCAAACTGCAAAAGAACACACATCCATTAATTAGGGACATTAGGTTGCATTTG 161386755 161386925 NA NA NA NA NA NA CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC natural 233 397 0.9828852 0.9733718 0.9781285 6924 5533 0.9186372 0.9346318 0.9266345 0.9828852 0.9733718 0.9186372 0.9346318 0 0 0 0 0.9781285 0.9266345 0 0 0 FALSE FALSE NA NA NA NA NA PARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKN NA NA NA ENSG00000185345 ENSE00003536545 NA NA NA NA NA NA NA NA NA NA ENSE00002394315_001 ENSE00002394315 001 6 161807788 161807957 - 38 84 48 T G 161807807 2705 151 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCCTTCCTCCAAGCAGGGCTCC 161386755 161386925 161386774 161386775 161386775 downstr_intron 19 1.513514 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCCTTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 433 486 1 0.9237899 0.9618949 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.08136281 -0.01084191 0.9781285 0.9266345 NA 0.03526045 NA FALSE NA 0 -0.263 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 9/10 1 NA ATG T,G 8.236e-06 6:161386775 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 intron_variant 0.025582 0.11305 0.00858 0.053691 0.4819066 0.0441407 NA NA 4.06068e-06 ENSE00002394315_002 ENSE00002394315 002 6 161807788 161807957 - 38 84 48 G A 161807808 2706 150 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTTATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386775 161386776 161386776 downstr_intron 18 1.486486 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTTATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 100 540 0.9793221 0.9740521 0.9766871 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.06068488 0.03942029 0.9781285 0.9266345 NA 0.05005258 NA FALSE NA 0.016 1.637 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 9/10 1 NA TGA G,A 1.647e-05 6:161386776 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 intron_variant -0.045508 0.15224 0.07645 0.053691 0.4270188 0.0441407 NA NA 8.12143e-06 ENSE00002394315_003 ENSE00002394315 003 6 161807788 161807957 - 38 84 48 T C 161807823 2707 135 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTGCAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386790 161386791 161386791 downstr_intron 3 1.081081 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTGCAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 540 651 1 1 1 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.08136281 0.06536823 0.9781285 0.9266345 NA 0.07336552 NA FALSE NA 0.998 2.382 . splice_region_variant&intron_variant LOW PARK2 HGNC 8607 ENST00000366897 9/10 1 NA GTA T,C 8.236e-06 6:161386791 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 splice_region_variant 0.169924 0.94637 0.82893 0.053691 0.5821603 0.222525 NA NA NA ENSE00002394315_004 ENSE00002394315 004 6 161807788 161807957 - 38 84 48 T C 161807834 2708 124 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAGCTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386801 161386802 161386802 exon -9 0.9047619 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAGCTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 277 59 0.9994463 1 0.9997232 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.08080914 0.06536823 0.9781285 0.9266345 NA 0.07308868 NA FALSE NA 0 -0.11 . missense_variant MODERATE PARK2 HGNC 8607 ENST00000366897 9/11 1 tolerated(1) benign(0.001) NA GTT T,C 8.236e-06 6:161386802 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant -1.742585 0.11299 0.00144 0.497415 0.3839326 0 NA NA 4.06072e-06 ENSE00002394315_005 ENSE00002394315 005 6 161807788 161807957 - 38 84 48 T C 161807835 2709 123 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACGACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386802 161386803 161386803 exon -10 0.8928571 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACGACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 651 1903 0.9965441 0.9778643 0.9872042 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.07790691 0.04323252 0.9781285 0.9266345 NA 0.06056972 NA FALSE NA 0 -1.956 . synonymous_variant LOW PARK2 HGNC 8607 ENST00000366897 9/11 1 NA TTG T,C 4.118e-05 6:161386803 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 synonymous_variant -0.792137 0.16344 0.02277 0.497415 0.4327044 0 NA NA 5.27893e-05 ENSE00002394315_006 ENSE00002394315 006 6 161807788 161807957 - 38 84 48 T C 161807837 2710 121 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAGCAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386804 161386805 161386805 exon -12 0.8690476 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAGCAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 582 551 0.9930821 0.9997129 0.9963975 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.07444489 0.06508109 0.9781285 0.9266345 NA 0.06976299 NA FALSE NA 0.016 -0.521 . missense_variant MODERATE PARK2 HGNC 8607 ENST00000366897 9/11 1 tolerated(1) benign(0.001) NA GTT T,C 8.236e-06 6:161386805 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant -2.19454 0.66327 0.00232 0.497415 0.2002183 0 NA NA 4.06068e-06 ENSE00002394315_007 ENSE00002394315 007 6 161807788 161807957 - 38 84 48 C G 161807855 2711 103 GGAGCCCTGCTTGGAGGAATGAGTAGGGCATTCTGTACCTGAGTAGTTGTTCCTGAGGCTTCAAATAGGGCACTGCACTCCCCTTCATGGTACGCTTCTTTACATTCCCGGCAGAAGGCAAACTGCAAAAGAACACACATCCATTAATTAGGGACATTAGGTTGCATTTG 161386755 161386925 161386822 161386823 161386823 exon -30 0.6547619 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCCTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 411 670 1 0.8343204 0.9171602 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.08136281 -0.1003113 0.9781285 0.9266345 NA -0.009474261 NA FALSE NA 0 -0.399 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:161386823 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant 0.083573 0.0936 0.00032 0.497415 0.2610136 0 NA NA 0.164748 ENSE00002394315_008 ENSE00002394315 008 6 161807788 161807957 - 38 84 48 C T 161807855 2712 103 GGAGCCCTGCTTGGAGGAATGAGTAGGGCATTCTGTACCTGAGTAGTTGTTCCTGAGGCTTCAAATATGGCACTGCACTCCCCTTCATGGTACGCTTCTTTACATTCCCGGCAGAAGGCAAACTGCAAAAGAACACACATCCATTAATTAGGGACATTAGGTTGCATTTG 161386755 161386925 161386822 161386823 161386823 exon -30 0.6547619 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCATATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 440 1347 0.9927665 0.8973573 0.9450619 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.07412936 -0.03727443 0.9781285 0.9266345 NA 0.01842747 NA FALSE NA 0 -0.399 NA NA NA PARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKN NA NA NA ENSG00000185345 ENSE00003536545 missense_variant 0.792764 0.1806 0.01775 0.497415 0.8052566 0 NA NA 3.24892e-05 ENSE00002394315_009 ENSE00002394315 009 6 161807788 161807957 - 38 84 48 G A 161807856 2713 102 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCTGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386823 161386824 161386824 exon -31 0.6428571 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCTGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 777 580 0.9940296 0.9988767 0.9964531 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.07539241 0.06424491 0.9781285 0.9266345 NA 0.06981866 NA FALSE NA 0 -0.769 . synonymous_variant LOW PARK2 HGNC 8607 ENST00000366897 9/11 1 NA CGG G,A 8.236e-06 6:161386824 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 synonymous_variant 1.161785 0.10308 0.0131 0.497415 0.3549894 0 NA NA 1.6243e-05 ENSE00002394315_010 ENSE00002394315 010 6 161807788 161807957 - 38 84 48 T C 161807861 2714 97 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCGGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386828 161386829 161386829 exon -36 0.5833333 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCGGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 711 454 0.9997844 1 0.9998922 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.08114722 0.06536823 0.9781285 0.9266345 NA 0.07325772 NA FALSE NA 0.377 0.293 . missense_variant MODERATE PARK2 HGNC 8607 ENST00000366897 9/11 COSM3622658 1 tolerated(0.38) benign(0.002) NA CTG T,C 8.236e-06 6:161386829 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant 0.101311 0.87911 0.13409 0.497415 0.8188447 0 NA NA 4.06065e-06 ENSE00002394315_013 ENSE00002394315 013 6 161807788 161807957 - 38 84 48 C T 161807880 2717 78 GGAGCCCTGCTTGGAGGAATGAGTAGGGCATTCTGTACCTGAGTAGTTGTTCCTGAGGCTTCAAATACGGCACTGCACTCCCCTTCATGGTATGCTTCTTTACATTCCCGGCAGAAGGCAAACTGCAAAAGAACACACATCCATTAATTAGGGACATTAGGTTGCATTTG 161386755 161386925 161386847 161386848 161386848 exon 30 0.3571429 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCATACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 3458 413 0.9347989 0.9996169 0.9672079 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.01616176 0.0649851 0.9781285 0.9266345 NA 0.04057343 NA FALSE NA 0 -1.908 . synonymous_variant LOW PARK2 HGNC 8607 ENST00000366897 9/11 1 NA ACG C,T 2.471e-05 6:161386848 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 synonymous_variant 1.422377 0.10531 0.00527 0.497415 0.337612 0 NA NA 1.62435e-05 ENSE00002394315_014 ENSE00002394315 014 6 161807788 161807957 - 38 84 48 G A 161807881 2718 77 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGTGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386848 161386849 161386849 exon 29 0.3452381 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGTGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 951 621 0.9994361 0.9992352 0.9993356 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.08079889 0.06460344 0.9781285 0.9266345 NA 0.07270116 NA FALSE NA 0 0.024 . missense_variant MODERATE PARK2 HGNC 8607 ENST00000366897 9/11 rs375036403&COSM207507 1 tolerated(0.05) benign(0.015) NA A:0 A:0.0001 CGC G,A 8.236e-06 6:161386849 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant 2.230258 0.13634 0.02474 0.497415 0.9441069 0 NA NA 1.62437e-05 ENSE00002394315_015 ENSE00002394315 015 6 161807788 161807957 - 38 84 48 T C 161807893 2719 65 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGGATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386860 161386861 161386861 exon 17 0.202381 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGGATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 87 703 0.9767779 0.9991762 0.9879771 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.0581407 0.06454445 0.9781285 0.9266345 NA 0.06134258 NA FALSE NA 1 4.029 . missense_variant MODERATE PARK2 HGNC 8607 ENST00000366897 9/11 1 tolerated(0.21) benign(0.102) NA TTC T,C 8.236e-06 6:161386861 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant 2.62547 0.97176 0.89285 0.497415 0.9818473 0 NA NA 4.06085e-06 ENSE00002394315_016 ENSE00002394315 016 6 161807788 161807957 - 38 84 48 C T 161807896 2720 62 GGAGCCCTGCTTGGAGGAATGAGTAGGGCATTCTGTACCTGAGTAGTTGTTCCTGAGGCTTCAAATACGGCACTGCACTCCCCTTCATGGTACGCTTCTTTACATTCCTGGCAGAAGGCAAACTGCAAAAGAACACACATCCATTAATTAGGGACATTAGGTTGCATTTG 161386755 161386925 161386863 161386864 161386864 exon 14 0.1666667 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCAGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 364 57 0.9931223 1 0.9965612 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.07448515 0.06536823 0.9781285 0.9266345 NA 0.06992669 NA FALSE NA 1 2.489 . missense_variant MODERATE PARK2 HGNC 8607 ENST00000366897 9/11 CM081385 1 deleterious(0.01) probably_damaging(0.995) NA CCG C,T 2.471e-05 6:161386864 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant 7.258322 0.96181 0.75621 0.497415 0.9994069 0 NA NA 1.62441e-05 ENSE00002394315_017 ENSE00002394315 017 6 161807788 161807957 - 38 84 48 G A 161807897 2721 61 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCTGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386864 161386865 161386865 exon 13 0.1547619 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCTGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 234 225 0.9776252 0.9998307 0.9887279 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.05898802 0.06519891 0.9781285 0.9266345 NA 0.06209346 NA FALSE NA 1 3.412 rs56092260 missense_variant MODERATE PARK2 HGNC 8607 ENST00000366897 9/11 rs56092260 1 deleterious(0) probably_damaging(1) A:0.0012 A:0 A:0 NA A:0.006 A:0 A:0 A:0.0007 A:0.0001 CGG G,A 0.0002306 6:161386865 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant 7.564349 0.9765 0.87764 0.497415 0.9991551 0 NA NA 0.000276158 ENSE00002394315_018 ENSE00002394315 018 6 161807788 161807957 - 38 84 48 A C 161807902 2722 56 GGAGCCCTGCTTGGAGGAATGAGTAGGGCATTCTGTACCTGAGTAGTTGTTCCTGAGGCTTCAAATACGGCACTGCACTCCCCTTCATGGTACGCTTCTTTACATTCCCGGCAGCAGGCAAACTGCAAAAGAACACACATCCATTAATTAGGGACATTAGGTTGCATTTG 161386755 161386925 161386869 161386870 161386870 exon 8 0.0952381 CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTGCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 1240 1357 0.9983525 0.9988703 0.9986114 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.07971534 0.06423848 0.9781285 0.9266345 NA 0.07197691 NA FALSE NA 1 4.709 . missense_variant MODERATE PARK2 HGNC 8607 ENST00000366897 9/11 1 deleterious(0) probably_damaging(0.999) NA GAA A,C 8.236e-06 6:161386870 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 missense_variant 4.931288 0.96355 0.92781 0.497415 0.9896988 0 NA NA 4.06095e-06 ENSE00002394315_020 ENSE00002394315 020 6 161807788 161807957 - 38 84 48 T A 161807927 2724 31 CAAATGCAACCTAATGTCCCTAATTAATGGTTGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 161386894 161386895 161386895 upstr_intron -18 -0.3541667 CAAATGCAACCTAATGTCCCTAATTAATGGTTGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC mutant NA NA NA NA NA 789 1864 0.9740496 0.9994879 0.9867688 0.9828852 0.9733718 0.9186372 0.9346318 NA NA 0.05541237 0.06485617 0.9781285 0.9266345 NA 0.06013427 NA FALSE NA 0 -2.956 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 8/10 1 NA ATC T,A 8.236e-06 6:161386895 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003536545 intron_variant 0.018352 0.10241 0.00548 0.053691 0.4032069 0.0441076 NA NA NA ENSE00002394315_BRK ENSE00002394315 BRK 6 161807788 161807957 - 38 84 48 A,G; T,T NA NA NA CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCTTTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGCCACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC 161386755 161386925 NA NA NA NA NA NA CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCTTTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGCCACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC CAAATGCAACCTAATGTCCCTAATTAATGGATGTGTGTTCTTTTGCAGTTTGCCTTCTGCCGGGAATGTAAAGAAGCGTACCATGAAGGGGAGTGCAGTGCCGTATTTGAAGCCTCAGGAACAACTACTCAGGTACAGAATGCCCTACTCATTCCTCCAAGCAGGGCTCC control 85 69 0.04563517 0 0.02281758 NA NA NA NA NA 0.9828852 0.9733718 0.9186372 0.9346318 -0.93725 -0.9733718 NA NA 0.9781285 0.9266345 -0.9553109 NA NA NA TRUE NA NA NA NA NA PARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKN NA NA NA ENSG00000185345 ENSE00003536545 NA NA NA NA NA NA NA NA NA NA ENSE00002395225_000 ENSE00002395225 000 2 74732427 74732596 - 39 81 50 NA NA NA NA NA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 NA NA NA NA NA NA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA natural NA NA NA NA NA 1690 2461 0.9972566 0.9937416 0.9954991 NA NA 0.9972566 0.9937416 NA NA 0 0 NA 0.9954991 NA 0 NA FALSE NA NA NA NA NA NA PCGF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCGF1 NA NA NA ENSG00000115289 ENSE00003538403 NA NA NA NA NA NA NA 0.9870604 TRUE NA ENSE00002395225_001 ENSE00002395225 001 2 74732427 74732596 - 39 81 50 G C 74732439 1820 158 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATGACACCCCCTTCA 74505299 74505469 74505311 74505312 74505312 downstr_intron 27 1.710526 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATGACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 138 368 0.9913391 0.9989591 0.9951491 NA NA 0.9972566 0.9937416 NA NA -0.005917464 0.005217455 NA 0.9954991 NA -0.0003500043 NA FALSE NA 0.145 0.768 rs142233300 downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 rs142233300 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0007 C:0 TGA G,C 5.769e-05 2:74505312 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 non_coding_transcript_exon_variant -0.236644 0.39647 0.14455 0 0.3840857 0.192032 0.9870604 TRUE 3.69484e-05 ENSE00002395225_002 ENSE00002395225 002 2 74732427 74732596 - 39 81 50 C A 74732442 1821 155 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGTATCACACCCCCTTCA 74505299 74505469 74505314 74505315 74505315 downstr_intron 24 1.631579 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGTATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 340 435 0.9981701 1 0.9990851 NA NA 0.9972566 0.9937416 NA NA 0.0009135262 0.00625836 NA 0.9954991 NA 0.003585943 NA FALSE NA 0.025 -0.735 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA TCC G,A 8.241e-06 2:74505315 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 non_coding_transcript_exon_variant 0.281808 0.15791 0.00807 0 0.2030415 0.192032 0.9870604 TRUE NA ENSE00002395225_003 ENSE00002395225 003 2 74732427 74732596 - 39 81 50 G A 74732448 1822 149 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTTCCTGGGATCACACCCCCTTCA 74505299 74505469 74505320 74505321 74505321 downstr_intron 18 1.473684 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTTCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 730 520 0.9941267 1 0.9970634 NA NA 0.9972566 0.9937416 NA NA -0.003129862 0.00625836 NA 0.9954991 NA 0.001564249 NA FALSE NA 0.656 0.115 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA GGA G,A 8.241e-06 2:74505321 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 non_coding_transcript_exon_variant -0.006969 0.18927 0.10785 0 0.6284414 0.192032 0.9870604 TRUE 4.45581e-06 ENSE00002395225_005 ENSE00002395225 005 2 74732427 74732596 - 39 81 50 G A 74732451 1824 146 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACTCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505323 74505324 74505324 downstr_intron 15 1.394737 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACTCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 1857 1220 0.9986019 0.998869 0.9987355 NA NA 0.9972566 0.9937416 NA NA 0.001345333 0.005127405 NA 0.9954991 NA 0.003236369 NA FALSE NA 0.947 2.306 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 rs576948817 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GGG G,A 5.768e-05 2:74505324 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 non_coding_transcript_exon_variant 0.973051 0.31831 0.58486 0 0.8536168 0.191328 0.9870604 TRUE 2.21623e-05 ENSE00002395225_006 ENSE00002395225 006 2 74732427 74732596 - 39 81 50 G A 74732454 1825 143 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCTACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505326 74505327 74505327 downstr_intron 12 1.315789 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCTACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 124 194 1 0.9898514 0.9949257 NA NA 0.9972566 0.9937416 NA NA 0.002743395 -0.003890225 NA 0.9954991 NA -0.0005734151 NA FALSE NA 0.937 0.364 rs188933540 downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 rs188933540 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TGG G,A 2.472e-05 2:74505327 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 non_coding_transcript_exon_variant 1.159121 0.208 0.37612 0 0.8224725 0.191328 0.9870604 TRUE 8.81306e-06 ENSE00002395225_007 ENSE00002395225 007 2 74732427 74732596 - 39 81 50 C G 74732456 1826 141 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGCCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505328 74505329 74505329 downstr_intron 10 1.263158 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGCCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 146 242 0.8185931 1 0.9092965 NA NA 0.9972566 0.9937416 NA NA -0.1786635 0.00625836 NA 0.9954991 NA -0.08620259 NA FALSE NA 0.56 -0.027 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA GCC C,G 8.24e-06 2:74505329 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 non_coding_transcript_exon_variant 1.03128 0.35499 0.08895 0 0.7138538 0.230539 0.9870604 TRUE 4.39839e-06 ENSE00002395225_008 ENSE00002395225 008 2 74732427 74732596 - 39 81 50 T C 74732462 1827 135 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAGGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505334 74505335 74505335 downstr_intron 4 1.105263 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAGGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 115 48 0.9859601 0.9720405 0.9790003 NA NA 0.9972566 0.9937416 NA NA -0.01129646 -0.02170118 NA 0.9954991 NA -0.01649882 NA FALSE NA 0.999 1.2 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA CTT T,C 4.119e-05 2:74505335 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 splice_region_variant 1.214642 0.89436 0.59894 0.139865 0.8797668 0.537259 0.9870604 TRUE 4.75939e-05 ENSE00002395225_009 ENSE00002395225 009 2 74732427 74732596 - 39 81 50 C T 74732471 1828 126 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCAGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505343 74505344 74505344 exon -6 0.9382716 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCAGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 236 293 0.9998255 0.9990856 0.9994555 NA NA 0.9972566 0.9937416 NA NA 0.002568886 0.005343938 NA 0.9954991 NA 0.003956412 NA FALSE NA 1 6.222 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA CCG C,T 8.238e-06 2:74505344 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 missense_variant 4.500275 0.95834 0.9531 0.722319 0.9406889 0 0.9870604 TRUE 1.28174e-05 ENSE00002395225_010 ENSE00002395225 010 2 74732427 74732596 - 39 81 50 G A 74732472 1829 125 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTTGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505344 74505345 74505345 exon -7 0.9259259 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTTGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 38 1185 0.9898269 0.9006024 0.9452146 NA NA 0.9972566 0.9937416 NA NA -0.00742974 -0.09313928 NA 0.9954991 NA -0.05028451 NA FALSE NA 1 1.049 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA CGA G,A 1.648e-05 2:74505345 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 synonymous_variant 1.428546 0.89699 0.69199 0.722319 0.8081124 0 0.9870604 TRUE NA ENSE00002395225_012 ENSE00002395225 012 2 74732427 74732596 - 39 81 50 G A 74732480 1831 117 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCTGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505352 74505353 74505353 exon -15 0.8271605 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCTGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 194 1045 0.9866988 0.9813503 0.9840246 NA NA 0.9972566 0.9937416 NA NA -0.01055776 -0.01239138 NA 0.9954991 NA -0.01147457 NA FALSE NA 1 4.971 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 rs201559196 1 NA CGG G,A 2.471e-05 2:74505353 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 missense_variant 4.643942 0.95987 0.93967 0.722319 0.9972718 0 0.9870604 TRUE 2.11374e-05 ENSE00002395225_013 ENSE00002395225 013 2 74732427 74732596 - 39 81 50 T G 74732492 1832 105 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGCTATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505364 74505365 74505365 exon -27 0.6790123 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGCTATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 84 580 0.95 0.9994073 0.9747036 NA NA 0.9972566 0.9937416 NA NA -0.04725661 0.005665628 NA 0.9954991 NA -0.02079549 NA FALSE NA 1 1.457 rs72818086 downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 rs72818086&COSM3933687&COSM3933686 1 G:0.0024 G:0 G:0.0086 NA G:0 G:0.004 G:0.002 G:0.0014 G:0.0051 ATC T,G 0.003394 2:74505365 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 missense_variant 1.900742 0.87622 0.68104 0.722319 0.9463137 0 0.9870604 TRUE 0.00336227 ENSE00002395225_014 ENSE00002395225 014 2 74732427 74732596 - 39 81 50 T C 74732501 1833 96 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAGTGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505373 74505374 74505374 exon -36 0.5679012 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAGTGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 90 47 1 1 1 NA NA 0.9972566 0.9937416 NA NA 0.002743395 0.00625836 NA 0.9954991 NA 0.004500877 NA FALSE NA 1 4.688 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA ATT T,C 2.471e-05 2:74505374 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 missense_variant 2.408281 0.93244 0.92358 0.722319 0.9931564 0 0.9870604 TRUE 1.25122e-05 ENSE00002395225_015 ENSE00002395225 015 2 74732427 74732596 - 39 81 50 T G 74732502 1834 95 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACCATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505374 74505375 74505375 exon -37 0.5555556 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACCATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 24 32 1 1 1 NA NA 0.9972566 0.9937416 NA NA 0.002743395 0.00625836 NA 0.9954991 NA 0.004500877 NA FALSE NA 0.997 0.244 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA TTG T,G 0.0001153 2:74505375 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 synonymous_variant 0.401464 0.87897 0.47386 0.722319 0.7887544 0 0.9870604 TRUE 0.000116838 ENSE00002395225_017 ENSE00002395225 017 2 74732427 74732596 - 39 81 50 C G 74732522 1836 75 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAACTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505394 74505395 74505395 exon 25 0.308642 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAACTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 368 164 0.9915395 0.9990344 0.995287 NA NA 0.9972566 0.9937416 NA NA -0.005717109 0.005292789 NA 0.9954991 NA -0.00021216 NA FALSE NA 1 2.895 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA ACT C,G 7.414e-05 2:74505395 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 missense_variant 0.848139 0.9165 0.8123 0.722319 0.8995031 0 0.9870604 TRUE 0.000113116 ENSE00002395225_019 ENSE00002395225 019 2 74732427 74732596 - 39 81 50 T C 74732559 1838 38 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCGTCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505431 74505432 74505432 upstr_intron -13 -0.24 TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCGTCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 117 1357 1 1 1 NA NA 0.9972566 0.9937416 NA NA 0.002743395 0.00625836 NA 0.9954991 NA 0.004500877 NA FALSE NA 0 0.013 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 rs369371639 1 NA C:0.0002 C:0 ATG T,C 1.648e-05 2:74505432 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 intron_variant -0.295522 0.15636 0.04236 0.095506 0.5462577 0.203201 0.9870604 TRUE 6.36111e-05 ENSE00002395225_021 ENSE00002395225 021 2 74732427 74732596 - 39 81 50 A G 74732569 1840 28 TTTTGACCTGCCAGAAAGTTCCTAAAACTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505441 74505442 74505442 upstr_intron -23 -0.44 TTTTGACCTGCCAGAAAGTTCCTAAAACTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 977 75 1 1 1 NA NA 0.9972566 0.9937416 NA NA 0.002743395 0.00625836 NA 0.9954991 NA 0.004500877 NA FALSE NA 0 0.84 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA AAT A,G 8.24e-06 2:74505442 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 intron_variant -0.298979 0.1046 0.00378 0.095506 0.6161257 0.133913 0.9870604 TRUE 4.23381e-06 ENSE00002395225_022 ENSE00002395225 022 2 74732427 74732596 - 39 81 50 G T 74732576 1841 21 TTTTGACCTGCCAGAAAGTTACTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 74505448 74505449 74505449 upstr_intron -30 -0.58 TTTTGACCTGCCAGAAAGTTACTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA mutant NA NA NA NA NA 182 327 1 1 1 NA NA 0.9972566 0.9937416 NA NA 0.002743395 0.00625836 NA 0.9954991 NA 0.004500877 NA FALSE NA 0 -0.596 . downstream_gene_variant MODIFIER PCGF1 HGNC 17615 ENST00000496911 1 NA GGA G,T 1.648e-05 2:74505449 PCGF1 HGNC Symbol protein_coding 3537 ENSG00000115289 ENSE00003538403 intron_variant -0.130204 0.17849 0.13391 0.095506 0.6141752 0.133913 0.9870604 TRUE 1.26842e-05 ENSE00002395225_BRK ENSE00002395225 BRK 2 74732427 74732596 - 39 81 50 A,G; T,T NA NA NA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTTTGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGCCAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA 74505299 74505469 NA NA NA NA NA NA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTTTGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGCCAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA TTTTGACCTGCCAGAAAGTTCCTAAAATTATGCCCCCATCTCCCTCCTAGGTGCAGCTCCTTTTTGACAATGAAGTTCTCCCTGATCACATGACAATGAAGCAGATATGGCTCTCCCGCTGGTTCGGCAAGGTAAGCCAGGCCACCCTCCCTGGGATCACACCCCCTTCA control NA NA NA NA NA 75 174 0.196496 0.05257929 0.1245377 NA NA 0.9972566 0.9937416 NA NA -0.8007606 -0.9411623 NA 0.9954991 NA -0.8709615 NA TRUE NA NA NA NA NA NA PCGF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PCGF1 NA NA NA ENSG00000115289 ENSE00003538403 NA NA NA NA NA NA NA 0.9870604 TRUE NA ENSE00002395591_000 ENSE00002395591 000 3 128971412 128971581 + 54 72 44 NA NA NA NA NA AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA 129252568 129252738 NA NA NA NA NA NA AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA natural NA NA NA NA NA 57 1312 0.9397844 0.9662672 0.9530258 NA NA 0.9397844 0.9662672 NA NA 0 0 NA 0.9530258 NA 0 NA FALSE NA NA NA NA NA NA COPG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COPG1 NA NA NA ENSG00000181789 ENSE00003493269 NA NA NA NA NA NA NA 0.9984993 TRUE NA ENSE00002395591_007 ENSE00002395591 007 3 128971412 128971581 + 54 72 44 G C 128971478 2695 67 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGCGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA 129252568 129252738 129252634 129252635 129252635 exon 13 0.1805556 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGCGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA mutant NA NA NA NA NA 429 12 1 1 1 NA NA 0.9397844 0.9662672 NA NA 0.06021563 0.03373278 NA 0.9530258 NA 0.0469742 NA FALSE NA 1 9.731 . missense_variant MODERATE COPG1 HGNC 2236 ENST00000314797 4/24 1 deleterious(0.01) probably_damaging(0.972) NA GGG G,C 8.236e-06 3:129252635 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003493269 missense_variant 6.448302 0.96349 0.98693 0.706548 0.9992504 0 0.9984993 TRUE 4.06213e-06 ENSE00002395591_011 ENSE00002395591 011 3 128971412 128971581 + 54 72 44 A C 128971489 2699 78 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGACGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA 129252568 129252738 129252645 129252646 129252646 exon 24 0.3333333 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGACGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA mutant NA NA NA NA NA 20 82 1 1 1 NA NA 0.9397844 0.9662672 NA NA 0.06021563 0.03373278 NA 0.9530258 NA 0.0469742 NA FALSE NA 1 3.237 . missense_variant MODERATE COPG1 HGNC 2236 ENST00000314797 4/24 1 deleterious(0) probably_damaging(1) NA AAG A,C 8.236e-06 3:129252646 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003493269 missense_variant 5.369554 0.91236 0.93639 0.706548 0.9986395 0 0.9984993 TRUE 8.12361e-06 ENSE00002395591_018 ENSE00002395591 018 3 128971412 128971581 + 54 72 44 G A 128971519 2706 108 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAACTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA 129252568 129252738 129252675 129252676 129252676 exon -19 0.75 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAACTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA mutant NA NA NA NA NA 298 292 0.9510489 0.9170665 0.9340577 NA NA 0.9397844 0.9662672 NA NA 0.01126451 -0.0492007 NA 0.9530258 NA -0.01896809 NA FALSE NA 1 0.611 rs143244455 synonymous_variant LOW COPG1 HGNC 2236 ENST00000314797 4/24 rs143244455 1 NA A:0 A:0.0001 AGC G,A 8.236e-06 3:129252676 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003493269 synonymous_variant 1.445316 0.88947 0.61902 0.706548 0.5893018 0 0.9984993 TRUE 4.06161e-06 ENSE00002395591_023 ENSE00002395591 023 3 128971412 128971581 + 54 72 44 G T 128971564 2711 153 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTTAGAGGTGGCAGCTGTAA 129252568 129252738 129252720 129252721 129252721 downstr_intron 27 1.627907 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTTAGAGGTGGCAGCTGTAA AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA mutant NA NA NA NA NA 202 48 0.992427 1 0.9962135 NA NA 0.9397844 0.9662672 NA NA 0.05264259 0.03373278 NA 0.9530258 NA 0.04318768 NA FALSE NA 0 -2.209 . intron_variant MODIFIER COPG1 HGNC 2236 ENST00000314797 4/23 1 NA TGA G,T 8.236e-06 3:129252721 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003493269 non_coding_transcript_exon_variant 0.331825 0.1576 0.08296 0.099367 0.779684 0.0822884 0.9984993 TRUE NA ENSE00002395591_025 ENSE00002395591 025 3 128971412 128971581 + 54 72 44 G A 128971571 2713 160 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTAGCAGCTGTAA 129252568 129252738 129252727 129252728 129252728 downstr_intron 34 1.790698 AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTAGCAGCTGTAA AACTGCTGTCTGACCCTCTGTCCCAAGCTGAGACTTCTTTCTTGATTAACACAGGGGGAGCACCTGGGGACCACGGAAGCGACCGAGGCCTTCTTTGCCATGACCAAGCTCTTTCAGTCCAATGATGTAAGTGCCTCAACCCAGCTTTCCTTGAGAGGTGGCAGCTGTAA mutant NA NA NA NA NA 216 1011 1 0.9980568 0.9990284 NA NA 0.9397844 0.9662672 NA NA 0.06021563 0.03178959 NA 0.9530258 NA 0.04600261 NA FALSE NA 0 -0.705 . intron_variant MODIFIER COPG1 HGNC 2236 ENST00000314797 4/23 rs373739692 1 NA A:0.0002 A:0 TGG G,A 8.236e-06 3:129252728 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003493269 non_coding_transcript_exon_variant 0.512786 0.15033 0.0686 0.099367 0.6713716 0.0588774 0.9984993 TRUE 4.08971e-06 ENSE00002395855_000 ENSE00002395855 000 2 175976260 175976429 - 36 87 47 NA NA NA NA NA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 NA NA NA NA NA NA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA natural NA NA NA NA NA 713 1784 0.9637942 0.9773708 0.9705825 NA NA 0.9637942 0.9773708 NA NA 0 0 NA 0.9705825 NA 0 NA FALSE NA NA NA NA NA NA ATF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATF2 NA NA NA ENSG00000115966 ENSE00003657956 NA NA NA NA NA NA NA 0.8922444 FALSE NA ENSE00002395855_002 ENSE00002395855 002 2 175976260 175976429 - 36 87 47 G A 175976313 3270 117 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTATAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111584 175111585 175111585 exon -18 0.8045977 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTATAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 44 177 0.01124645 0.002071718 0.006659082 NA NA 0.9637942 0.9773708 NA NA -0.9525477 -0.9752991 NA 0.9705825 NA -0.9639234 NA TRUE NA 1 9.057 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 10/15 1 NA TGT G,A 8.236e-06 2:175111585 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 stop_gained 14.13894 0.98124 0.98215 0.706548 0.9981004 0 0.8922444 FALSE 4.06319e-06 ENSE00002395855_003 ENSE00002395855 003 2 175976260 175976429 - 36 87 47 C G 175976316 3271 114 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCACTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111587 175111588 175111588 exon -21 0.7701149 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCACTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 338 66 0.9998782 1 0.9999391 NA NA 0.9637942 0.9773708 NA NA 0.03608399 0.02262918 NA 0.9705825 NA 0.02935658 NA FALSE NA 1 5.435 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 10/15 1 NA ACT C,G 8.236e-06 2:175111588 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 missense_variant 2.665578 0.97246 0.95931 0.706548 0.9931544 0 0.8922444 FALSE 4.06352e-06 ENSE00002395855_004 ENSE00002395855 004 2 175976260 175976429 - 36 87 47 G A 175976318 3272 112 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACTAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111589 175111590 175111590 exon -23 0.7471264 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACTAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 1010 143 0.0787981 0 0.03939905 NA NA 0.9637942 0.9773708 NA NA -0.8849961 -0.9773708 NA 0.9705825 NA -0.9311835 NA TRUE NA 1 9.057 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 10/15 COSM1186056 1 NA TGG G,A 4.118e-05 2:175111590 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 stop_gained 6.975192 0.98058 0.98224 0.706548 0.9972345 0 0.8922444 FALSE 2.84379e-05 ENSE00002395855_005 ENSE00002395855 005 2 175976260 175976429 - 36 87 47 T C 175976320 3273 110 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAGCCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111591 175111592 175111592 exon -25 0.7241379 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAGCCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 95 285 0.95 0.9362214 0.9431107 NA NA 0.9637942 0.9773708 NA NA -0.01379419 -0.04114946 NA 0.9705825 NA -0.02747183 NA FALSE NA 1 0.737 NA NA NA ATF2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:175111592 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 missense_variant 0.192764 0.92411 0.64355 0.706548 0.9978475 0 0.8922444 FALSE 8.12486e-06 ENSE00002395855_007 ENSE00002395855 007 2 175976260 175976429 - 36 87 47 T G 175976338 3275 92 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCCGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111609 175111610 175111610 exon -43 0.5172414 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCCGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 133 332 0.9575152 1 0.9787576 NA NA 0.9637942 0.9773708 NA NA -0.006278959 0.02262918 NA 0.9705825 NA 0.008175108 NA FALSE NA 1 1.464 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 10/15 1 NA CTG T,G 3.295e-05 2:175111610 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 missense_variant 0.542021 0.93487 0.89888 0.706548 0.9863273 0 0.8922444 FALSE 4.87599e-05 ENSE00002395855_008 ENSE00002395855 008 2 175976260 175976429 - 36 87 47 G A 175976341 3276 89 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATTCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111612 175111613 175111613 exon 42 0.4827586 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATTCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 57 1141 0.931726 0.990455 0.9610905 NA NA 0.9637942 0.9773708 NA NA -0.03206821 0.01308413 NA 0.9705825 NA -0.009492037 NA FALSE NA 1 1.864 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 10/15 1 NA GGA G,A 8.236e-06 2:175111613 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 missense_variant 1.586113 0.93854 0.8439 0.706548 0.997351 0 0.8922444 FALSE 8.12618e-06 ENSE00002395855_009 ENSE00002395855 009 2 175976260 175976429 - 36 87 47 C T 175976345 3277 85 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGAAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111616 175111617 175111617 exon 38 0.4367816 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGAAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 13 33 0.8 0.8 0.8 NA NA 0.9637942 0.9773708 NA NA -0.1637942 -0.1773708 NA 0.9705825 NA -0.1705825 NA FALSE NA 1 7.162 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 10/15 COSM3570156 1 NA TCC C,T 1.647e-05 2:175111617 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 missense_variant 4.106611 0.98135 0.97748 0.706548 0.9977276 0 0.8922444 FALSE 8.12632e-06 ENSE00002395855_010 ENSE00002395855 010 2 175976260 175976429 - 36 87 47 G C 175976349 3278 81 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTGCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111620 175111621 175111621 exon 34 0.3908046 TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTGCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 351 14 0.8417364 0.8 0.8208682 NA NA 0.9637942 0.9773708 NA NA -0.1220578 -0.1773708 NA 0.9705825 NA -0.1497143 NA FALSE NA 1 9.057 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 10/15 1 NA GGA G,C 8.236e-06 2:175111621 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 missense_variant 2.117946 0.98224 0.98719 0.706548 0.9731622 0 0.8922444 FALSE 4.06312e-06 ENSE00002395855_017 ENSE00002395855 017 2 175976260 175976429 - 36 87 47 T A 175976409 3285 21 TTTTGAATATATTCTCTAGCTATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111680 175111681 175111681 upstr_intron -27 -0.5531915 TTTTGAATATATTCTCTAGCTATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 135 68 0.8 0.95 0.875 NA NA 0.9637942 0.9773708 NA NA -0.1637942 -0.02737082 NA 0.9705825 NA -0.09558251 NA FALSE NA 0.256 2.022 . intron_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 9/14 1 NA TTG T,A 1.647e-05 2:175111681 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 intron_variant 1.238067 0.32167 0.44839 0.088506 0.7690921 0.910069 0.8922444 FALSE 1.65529e-05 ENSE00002395855_018 ENSE00002395855 018 2 175976260 175976429 - 36 87 47 G A 175976414 3286 16 TTTTGAATATATTCTTTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111685 175111686 175111686 upstr_intron -32 -0.6595745 TTTTGAATATATTCTTTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 712 355 0.8847299 0.9916514 0.9381906 NA NA 0.9637942 0.9773708 NA NA -0.07906426 0.01428055 NA 0.9705825 NA -0.03239186 NA FALSE NA 0 -0.64 . intron_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 9/14 1 NA AGA G,A 8.236e-06 2:175111686 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 intron_variant 0.156445 0.11714 0.14474 0.088506 0.6710101 0.0801844 0.8922444 FALSE 4.14384e-06 ENSE00002395855_019 ENSE00002395855 019 2 175976260 175976429 - 36 87 47 T C 175976419 3287 11 TTTTGAATATGTTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA 175111531 175111701 175111690 175111691 175111691 upstr_intron -37 -0.7659574 TTTTGAATATGTTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA TTTTGAATATATTCTCTAGCAATTATTTTTCCTTATGTCATGCATAGCTCGTTCGACCAGTCACCATGGTGCCTAGTGTTCCAGGAATCCCAGGTCCTTCCTCTCCCCAACCAGTACAGTCAGAAGCAAAAATGGTAAGCCAGATTTTATTTGTTCTGTACATTGCTTGA mutant NA NA NA NA NA 189 1092 0.9554051 0.9979169 0.976661 NA NA 0.9637942 0.9773708 NA NA -0.008389089 0.02054612 NA 0.9705825 NA 0.006078515 NA FALSE NA 0.006 0.323 . intron_variant&NMD_transcript_variant MODIFIER ATF2 HGNC 784 ENST00000415955 9/14 1 NA ATA T,C 8.236e-06 2:175111691 ATF2 HGNC Symbol protein_coding 96132 ENSG00000115966 ENSE00003657956 intron_variant 0.354046 0.16493 0.23319 0.088506 0.5903442 0.0801844 0.8922444 FALSE 8.38335e-06 ENSE00002395897_000 ENSE00002395897 000 7 99507156 99507325 - 32 96 42 NA NA NA NA NA TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 NA NA NA NA NA NA TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT natural NA NA NA NA NA 1427 2251 0.9931403 0.9999831 0.9965617 NA NA 0.9931403 0.9999831 NA NA 0 0 NA 0.9965617 NA 0 NA FALSE NA NA NA NA NA NA TRIM4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM4 NA NA NA ENSG00000146833 ENSE00002492388 NA NA NA NA NA NA NA 1.682582e-06 FALSE NA ENSE00002395897_005 ENSE00002395897 005 7 99507156 99507325 - 32 96 42 C T 99507202 2026 124 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACACCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909578 99909579 99909579 exon -15 0.8541667 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACACCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 54 38 1 0.949235 0.9746175 NA NA 0.9931403 0.9999831 NA NA 0.006859704 -0.05074814 NA 0.9965617 NA -0.02194422 NA FALSE NA 0.167 0.138 . missense_variant MODERATE TRIM4 HGNC 16275 ENST00000349062 2/6 1 tolerated(0.35) benign(0.043) NA GCG C,T 8.237e-06 7:99909579 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 missense_variant 0.296906 0.15132 0.08205 0.706548 0.0896878 0 1.682582e-06 FALSE 8.12546e-06 ENSE00002395897_006 ENSE00002395897 006 7 99507156 99507325 - 32 96 42 G A 99507203 2027 123 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAATGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909579 99909580 99909580 exon -16 0.84375 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAATGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 22 1194 1 0.9939361 0.996968 NA NA 0.9931403 0.9999831 NA NA 0.006859704 -0.006047019 NA 0.9965617 NA 0.0004063426 NA FALSE NA 0.29 0.307 . synonymous_variant LOW TRIM4 HGNC 16275 ENST00000349062 2/6 rs201165325 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGT G,A 9.884e-05 7:99909580 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 synonymous_variant -0.050575 0.13862 0.01541 0.706548 0.3860841 0 1.682582e-06 FALSE 8.53124e-05 ENSE00002395897_008 ENSE00002395897 008 7 99507156 99507325 - 32 96 42 C A 99507251 2029 75 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTTGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909627 99909628 99909628 exon 33 0.34375 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTTGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 295 457 1 0.988385 0.9941925 NA NA 0.9931403 0.9999831 NA NA 0.006859704 -0.01159806 NA 0.9965617 NA -0.002369178 NA FALSE NA 0 -0.769 . synonymous_variant LOW TRIM4 HGNC 16275 ENST00000349062 2/6 rs201741037 1 A:0.0010 A:0 A:0 NA A:0 A:0 A:0.0051 CCA C,A 0.00028 7:99909628 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 synonymous_variant 0.397611 0.09136 0.02895 0.706548 0.5160636 0 1.682582e-06 FALSE 0.000272205 ENSE00002395897_009 ENSE00002395897 009 7 99507156 99507325 - 32 96 42 C T 99507253 2030 73 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCATGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909629 99909630 99909630 exon 31 0.3229167 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCATGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 97 222 0.9826774 1 0.9913387 NA NA 0.9931403 0.9999831 NA NA -0.0104629 1.690835e-05 NA 0.9965617 NA -0.005222996 NA FALSE NA 0 -0.136 NA NA NA TRIM4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:99909630 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 missense_variant 0.01779 0.09009 0.00578 0.706548 0.7653434 0 1.682582e-06 FALSE 2.03155e-05 ENSE00002395897_011 ENSE00002395897 011 7 99507156 99507325 - 32 96 42 G A 99507254 2032 72 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTTGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909630 99909631 99909631 exon 30 0.3125 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTTGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 406 473 0.9998986 0.9996655 0.999782 NA NA 0.9931403 0.9999831 NA NA 0.006758297 -0.0003175981 NA 0.9965617 NA 0.00322035 NA FALSE NA 0 -1.354 . synonymous_variant LOW TRIM4 HGNC 16275 ENST00000349062 2/6 1 NA CGA G,A 1.647e-05 7:99909631 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 synonymous_variant 0.268524 0.099 0.01481 0.706548 0.4912898 0 1.682582e-06 FALSE 3.65687e-05 ENSE00002395897_012 ENSE00002395897 012 7 99507156 99507325 - 32 96 42 C T 99507261 2033 65 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCATAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909637 99909638 99909638 exon 23 0.2395833 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCATAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 11 1496 1 0.9974936 0.9987468 NA NA 0.9931403 0.9999831 NA NA 0.006859704 -0.002489488 NA 0.9965617 NA 0.002185108 NA FALSE NA 0 -0.925 . missense_variant MODERATE TRIM4 HGNC 16275 ENST00000349062 2/6 1 tolerated(0.18) benign(0.001) NA ACG C,T 1.647e-05 7:99909638 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 missense_variant 1.046138 0.10813 0.02423 0.706548 0.954049 0 1.682582e-06 FALSE 1.62565e-05 ENSE00002395897_015 ENSE00002395897 015 7 99507156 99507325 - 32 96 42 T G 99507264 2036 62 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCCGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909640 99909641 99909641 exon 20 0.2083333 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCCGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 195 419 0.9997888 1 0.9998944 NA NA 0.9931403 0.9999831 NA NA 0.00664847 1.690835e-05 NA 0.9965617 NA 0.003332689 NA FALSE NA 0.106 1.681 . missense_variant MODERATE TRIM4 HGNC 16275 ENST00000349062 2/6 rs565062091 1 tolerated(0.06) possibly_damaging(0.885) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CTG T,G 0.00014 7:99909641 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 missense_variant 2.876204 0.13365 0.10193 0.706548 0.9466854 0 1.682582e-06 FALSE 0.000134191 ENSE00002395897_018 ENSE00002395897 018 7 99507156 99507325 - 32 96 42 C A 99507287 2039 39 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGTCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909663 99909664 99909664 upstr_intron -4 -0.07142857 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGTCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 224 259 1 0.9997056 0.9998528 NA NA 0.9931403 0.9999831 NA NA 0.006859704 -0.0002775085 NA 0.9965617 NA 0.003291098 NA FALSE NA 0.996 0.542 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:99909664 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 splice_region_variant 2.14181 0.8219 0.55946 0.099367 0.8727394 0.131145 1.682582e-06 FALSE 4.07701e-06 ENSE00002395897_019 ENSE00002395897 019 7 99507156 99507325 - 32 96 42 C T 99507287 2040 39 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGACAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909663 99909664 99909664 upstr_intron -4 -0.07142857 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGACAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 325 22 0.9776012 0.9927423 0.9851717 NA NA 0.9931403 0.9999831 NA NA -0.01553913 -0.007240828 NA 0.9965617 NA -0.01138998 NA FALSE NA 0.996 0.542 NA NA NA TRIM4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM4 NA NA NA ENSG00000146833 ENSE00002492388 splice_region_variant 2.121341 0.81449 0.46746 0.099367 0.8437117 0.131145 1.682582e-06 FALSE 1.2231e-05 ENSE00002395897_020 ENSE00002395897 020 7 99507156 99507325 - 32 96 42 A G 99507292 2041 34 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCCGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909668 99909669 99909669 upstr_intron -9 -0.1904762 TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCCGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 217 344 1 1 1 NA NA 0.9931403 0.9999831 NA NA 0.006859704 1.690835e-05 NA 0.9965617 NA 0.003438306 NA FALSE NA 1 1.947 . intron_variant MODIFIER TRIM4 HGNC 16275 ENST00000349062 1/5 1 NA CAG A,G 1.647e-05 7:99909669 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 intron_variant 2.562944 0.84973 0.68836 0.099367 0.8762956 0.131145 1.682582e-06 FALSE 1.2245e-05 ENSE00002395897_024 ENSE00002395897 024 7 99507156 99507325 - 32 96 42 A T 99507311 2045 15 TTGGAGATGTGTTTACTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT 99909532 99909702 99909687 99909688 99909688 upstr_intron -28 -0.6428571 TTGGAGATGTGTTTACTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT TTGGAGATGTGTTTTCTTACCTGTGTGTGTTTCTGCTGGCAGGAGAAACTTCTTAAGTCTCAGCGTAATCTCGTGGCCAAGATGAAGAAAGTCATGCATTTACAGGATGTAGAAGTGAAGAACGCCACACAGTGGAAGGTAATGGCAGAAGTGGTTGGATATTTCTTGCT mutant NA NA NA NA NA 39 166 0.8268853 1 0.9134426 NA NA 0.9931403 0.9999831 NA NA -0.166255 1.690835e-05 NA 0.9965617 NA -0.08311906 NA FALSE NA 0.005 0.816 . intron_variant MODIFIER TRIM4 HGNC 16275 ENST00000349062 1/5 rs532302474 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 GAA A,T 8.237e-06 7:99909688 TRIM4 HGNC Symbol protein_coding 42642 ENSG00000146833 ENSE00002492388 intron_variant 0.364615 0.14925 0.09685 0.099367 0.7887929 0.103541 1.682582e-06 FALSE 4.29827e-06 ENSE00002395905_000 ENSE00002395905 000 3 125873362 125873531 - 35 90 45 NA NA NA NA NA GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 NA NA NA NA NA NA GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC natural 26 30 0.9921053 0.9951282 0.9936168 1233 1908 0.9634303 0.9964908 0.9799605 0.9921053 0.9951282 0.9634303 0.9964908 0 0 0 0 0.9936168 0.9799605 0 0 0 FALSE FALSE NA NA NA NA NA ALDH1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH1L1 NA NA NA ENSG00000144908 ENSE00003627703 NA NA NA NA NA NA NA 9.617837e-06 FALSE NA ENSE00002395905_002 ENSE00002395905 002 3 125873362 125873531 - 35 90 45 G A 125873373 2556 159 GCACGTGGCTGAATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154529 126154530 126154530 downstr_intron 24 1.705882 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATTCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 663 1986 0.9997514 0.9998081 0.9997798 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03632117 0.003317353 0.9936168 0.9799605 NA 0.01981926 NA FALSE NA 0.003 -0.261 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 1 NA GGA G,A 8.237e-06 3:126154530 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 intron_variant 0.120857 0.1172 0.01016 0.078448 0.8107645 0.0468812 9.617837e-06 FALSE 8.14744e-06 ENSE00002395905_003 ENSE00002395905 003 3 125873362 125873531 - 35 90 45 C T 125873381 2557 151 GCACGTGGCTGGATTCCAGTCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154537 126154538 126154538 downstr_intron 16 1.470588 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGACTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 848 2521 1 0.9957677 0.9978838 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03656972 -0.0007231031 0.9936168 0.9799605 NA 0.01792331 NA FALSE NA 0.02 0.452 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 1 NA GCC C,T 8.237e-06 3:126154538 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 intron_variant 0.182801 0.19302 0.07101 0.078448 0.5465261 0.0468812 9.617837e-06 FALSE 4.07259e-06 ENSE00002395905_004 ENSE00002395905 004 3 125873362 125873531 - 35 90 45 G T 125873385 2558 147 GCACGTGGCTGGATTCCAGCCATTCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154541 126154542 126154542 downstr_intron 12 1.352941 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGAATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 158 562 1 0.9989091 0.9994546 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03656972 0.002418326 0.9936168 0.9799605 NA 0.01949402 NA FALSE NA 0 -0.98 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 1 NA TGC G,T 8.236e-06 3:126154542 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 intron_variant -0.26184 0.15449 0.06209 0.078448 0.4038236 0.0468812 9.617837e-06 FALSE NA ENSE00002395905_005 ENSE00002395905 005 3 125873362 125873531 - 35 90 45 C T 125873404 2559 128 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCATAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154560 126154561 126154561 exon -8 0.9222222 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTATGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 97 603 1 0.9566509 0.9783255 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03656972 -0.03983985 0.9936168 0.9799605 NA -0.001635067 NA FALSE NA 0.982 3.307 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs199519280 1 NA ACA C,T 0.0001483 3:126154561 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 missense_variant 5.774968 0.96617 0.61407 0.615465 0.9860358 0 9.617837e-06 FALSE 0.000166618 ENSE00002395905_006 ENSE00002395905 006 3 125873362 125873531 - 35 90 45 C T 125873424 2560 108 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCTGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154580 126154581 126154581 exon -28 0.7 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCAGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 515 672 0.9976109 0.9926332 0.9951221 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03418065 -0.003857583 0.9936168 0.9799605 NA 0.01516153 NA FALSE NA 0 -5.066 rs147049729 downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs147049729 1 NA T:0 T:0.0002 CCG C,T 4.942e-05 3:126154581 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 synonymous_variant 1.308693 0.09132 0.00579 0.615465 0.5711814 0 9.617837e-06 FALSE 9.34321e-05 ENSE00002395905_007 ENSE00002395905 007 3 125873362 125873531 - 35 90 45 G A 125873425 2561 107 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCAGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154581 126154582 126154582 exon -29 0.6888889 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCTGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 61 1288 0.9974782 0.995599 0.9965386 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03404796 -0.0008918091 0.9936168 0.9799605 NA 0.01657808 NA FALSE NA 1 8.639 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs370724859 1 NA A:0 A:0.0002 CGG G,A 1.647e-05 3:126154582 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 missense_variant 6.11041 0.99036 0.98015 0.615465 0.9986936 0 9.617837e-06 FALSE 2.03118e-05 ENSE00002395905_009 ENSE00002395905 009 3 125873362 125873531 - 35 90 45 C T 125873435 2563 97 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTTGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154591 126154592 126154592 exon -39 0.5777778 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACAACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 564 1087 0.9981614 0.9955736 0.9968675 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03473113 -0.0009171458 0.9936168 0.9799605 NA 0.01690699 NA FALSE NA 1 6.841 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 1 NA TCG C,T 8.236e-06 3:126154592 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 missense_variant 6.42491 0.99021 0.9688 0.615465 0.9991356 0 9.617837e-06 FALSE 1.21864e-05 ENSE00002395905_010 ENSE00002395905 010 3 125873362 125873531 - 35 90 45 G A 125873436 2564 96 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCATTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154592 126154593 126154593 exon -40 0.5666667 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAATGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 1609 516 0.8802636 1 0.9401318 0.9921053 0.9951282 0.9634303 0.9964908 NA NA -0.08316667 0.003509208 0.9936168 0.9799605 NA -0.03982873 NA FALSE NA 0.282 -0.378 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs374387532&COSM1327899 1 NA A:0 A:0.0001 CGT G,A 0.0002636 3:126154593 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 synonymous_variant 0.14669 0.6417 0.03725 0.615465 0.6936406 0 9.617837e-06 FALSE 0.000223426 ENSE00002395905_011 ENSE00002395905 011 3 125873362 125873531 - 35 90 45 G A 125873442 2565 90 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCACGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154598 126154599 126154599 exon 45 0.5 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGTGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 235 158 0.9924048 1 0.9962024 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.02897449 0.003509208 0.9936168 0.9799605 NA 0.01624185 NA FALSE NA 0.281 -0.827 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs567115373 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 CGC G,A 7.413e-05 3:126154599 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 synonymous_variant 1.121718 0.6223 0.02182 0.554377 0.7344853 0 9.617837e-06 FALSE 8.53118e-05 ENSE00002395905_012 ENSE00002395905 012 3 125873362 125873531 - 35 90 45 C T 125873443 2566 89 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGTGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154599 126154600 126154600 exon 44 0.4888889 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCACGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 1294 988 0.9989457 0.9998458 0.9993958 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03551546 0.003354983 0.9936168 0.9799605 NA 0.01943522 NA FALSE NA 1 6.841 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 1 NA GCG C,T 1.647e-05 3:126154600 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 missense_variant 6.358395 0.98236 0.95514 0.554377 0.9991905 0 9.617837e-06 FALSE 1.625e-05 ENSE00002395905_013 ENSE00002395905 013 3 125873362 125873531 - 35 90 45 G A 125873444 2567 88 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCAGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154600 126154601 126154601 exon 43 0.4777778 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCTGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 193 225 0.9963177 1 0.9981589 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03288743 0.003509208 0.9936168 0.9799605 NA 0.01819832 NA FALSE NA 1 2.002 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs539210926 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 8.236e-06 3:126154601 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 missense_variant 6.87379 0.96706 0.8619 0.554377 0.9993252 0 9.617837e-06 FALSE 4.06237e-06 ENSE00002395905_014 ENSE00002395905 014 3 125873362 125873531 - 35 90 45 C T 125873463 2568 69 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCTTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154619 126154620 126154620 exon 24 0.2666667 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAAGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 722 140 0.9993627 1 0.9996813 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03593238 0.003509208 0.9936168 0.9799605 NA 0.01972079 NA FALSE NA 1 1.039 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs558815366 1 T:0.0016 T:0 T:0 NA T:0 T:0 T:0.0082 CCT C,T 0.001606 3:126154620 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 splice_acceptor_variant 1.990981 0.96056 0.56732 0.554377 0.9393723 0 9.617837e-06 FALSE 0.00151109 ENSE00002395905_015 ENSE00002395905 015 3 125873362 125873531 - 35 90 45 G A 125873467 2569 65 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTACCGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154623 126154624 126154624 exon 20 0.2222222 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGTAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 406 328 0.9833583 0.9995175 0.9914379 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.01992803 0.003026731 0.9936168 0.9799605 NA 0.01147738 NA FALSE NA 1 8.639 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 1 NA TGC G,A 8.236e-06 3:126154624 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 missense_variant 6.934334 0.99059 0.97975 0.554377 0.9992279 0 9.617837e-06 FALSE 4.06246e-06 ENSE00002395905_016 ENSE00002395905 016 3 125873362 125873531 - 35 90 45 C T 125873469 2570 63 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCTGGCTGGTCCCAGTTGATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154625 126154626 126154626 exon 18 0.2 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCAGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 309 690 0.9995037 0.9998896 0.9996967 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03607343 0.003398823 0.9936168 0.9799605 NA 0.01973613 NA FALSE NA 0.864 -0.288 rs143206525 downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs143206525 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0001 CCG C,T 2.471e-05 3:126154626 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 splice_region_variant 2.177724 0.84924 0.149 0.554377 0.8720869 0 9.617837e-06 FALSE 2.43762e-05 ENSE00002395905_018 ENSE00002395905 018 3 125873362 125873531 - 35 90 45 G T 125873484 2572 48 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTTATCTGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154640 126154641 126154641 exon 3 0.03333333 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATAAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 359 286 0.9970984 0.9929094 0.9950039 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03366814 -0.003581357 0.9936168 0.9799605 NA 0.01504339 NA FALSE NA 1 1.474 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 1 NA TGA G,T 3.295e-05 3:126154641 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 splice_region_variant 1.864004 0.97714 0.83355 0.554377 0.9227506 0 9.617837e-06 FALSE 3.25066e-05 ENSE00002395905_019 ENSE00002395905 019 3 125873362 125873531 - 35 90 45 G A 125873491 2573 41 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTAGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154647 126154648 126154648 upstr_intron -5 -0.08888889 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCTACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 448 1206 0.9981482 0.999557 0.9988526 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.03471789 0.003066194 0.9936168 0.9799605 NA 0.01889204 NA FALSE NA 0.019 -0.23 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 rs202185176 1 A:0.0078 A:0 A:0 NA A:0 A:0 A:0.0399 TGG G,A 0.003789 3:126154648 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 splice_region_variant 0.0552 0.19302 0.01028 0.078448 0.6503863 0.111649 9.617837e-06 FALSE 0.00358464 ENSE00002395905_020 ENSE00002395905 020 3 125873362 125873531 - 35 90 45 C T 125873497 2574 35 GCACGTGGCTGGATTCCAGCCATGCAGGGACACACCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATCTGTGGGGAGTAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 126154653 126154654 126154654 upstr_intron -11 -0.2222222 GAGTGAGGAGAGACCAGCTGAGCACACACACCTTACTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC mutant NA NA NA NA NA 1128 1024 0.9674996 0.9982973 0.9828985 0.9921053 0.9951282 0.9634303 0.9964908 NA NA 0.004069358 0.001806487 0.9936168 0.9799605 NA 0.002937923 NA FALSE NA 0 0.246 . downstream_gene_variant MODIFIER ALDH1L1 HGNC 3978 ENST00000509952 1 NA GCA C,T 3.295e-05 3:126154654 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003627703 intron_variant -0.027497 0.19869 0.05517 0.053691 0.4040058 0.0927821 9.617837e-06 FALSE 1.6262e-05 ENSE00002395905_BRK ENSE00002395905 BRK 3 125873362 125873531 - 35 90 45 A,G; T,T NA NA NA GCACGTGGCTGGATTCCAGCCATGCAGGGACACGGCTGTTCACAGGCCTCTGTCCAGGCTCCCGGCACCTTGTCGTTCCCGCGGATCCAGTTGTGAATGGCCTCTGCCGGCTGGTCCCAGTTGATAAGTGGGGAGCAAGGTGTGTGTGCTCAGCTGGTCTCTCCTCACTC 126154518 126154688 NA NA NA NA NA NA GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACTTATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGCCGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC GAGTGAGGAGAGACCAGCTGAGCACACACACCTTGCTCCCCACAGATCAACTGGGACCAGCCGGCAGAGGCCATTCACAACTGGATCCGCGGGAACGACAAGGTGCCGGGAGCCTGGACAGAGGCCTGTGAACAGGTGTGTCCCTGCATGGCTGGAATCCAGCCACGTGC control NA NA NA NA NA 649 1818 0.0128052 0.004432894 0.008619047 0.9921053 0.9951282 0.9634303 0.9964908 NA NA -0.9506251 -0.9920579 0.9936168 0.9799605 NA -0.9713415 NA TRUE NA NA NA NA NA NA ALDH1L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH1L1 NA NA NA ENSG00000144908 ENSE00003627703 NA NA NA NA NA NA NA 9.617837e-06 FALSE NA ENSE00002395941_000 ENSE00002395941 000 2 85589256 85589425 + 53 75 42 NA NA NA NA NA ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 NA NA NA NA NA NA ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT natural 158 191 0.9676791 0.8832644 0.9254717 4748 3545 0.9608312 0.9022005 0.9315159 0.9676791 0.8832644 0.9608312 0.9022005 0 0 0 0 0.9254717 0.9315159 0 0 0 FALSE FALSE NA NA NA NA NA ELMOD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELMOD3 NA NA NA ENSG00000115459 ENSE00003459868 NA NA NA NA NA NA NA 4.564088e-11 FALSE NA ENSE00002395941_001 ENSE00002395941 001 2 85589256 85589425 + 53 75 42 G T 85589266 1955 11 ATCTTTGGGGTATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362142 85362143 85362143 upstr_intron -43 -0.7924528 ATCTTTGGGGTATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 1615 131 0.9962172 1 0.9981086 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03538602 0.09779952 0.9254717 0.9315159 NA 0.06659277 NA FALSE NA 0 -0.089 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 rs543977829 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGA G,T 5.765e-05 2:85362143 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 intron_variant -0.292816 0.16275 0.10054 0.106106 0.5440726 0.0466578 4.564088e-11 FALSE 3.78399e-05 ENSE00002395941_002 ENSE00002395941 002 2 85589256 85589425 + 53 75 42 A G 85589270 1956 15 ATCTTTGGGGGATTGATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362146 85362147 85362147 upstr_intron -39 -0.7169811 ATCTTTGGGGGATTGATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 312 217 1 0.9992705 0.9996352 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03916878 0.09707001 0.9254717 0.9315159 NA 0.06811939 NA FALSE NA 0 -0.718 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA TAA A,G 8.236e-06 2:85362147 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 intron_variant 0.283187 0.08483 0.00122 0.106106 0.7435528 0.0466578 4.564088e-11 FALSE 4.16865e-06 ENSE00002395941_003 ENSE00002395941 003 2 85589256 85589425 + 53 75 42 T C 85589287 1957 32 ATCTTTGGGGGATTAATATGTGCCTAGGAGACTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362163 85362164 85362164 upstr_intron -22 -0.3962264 ATCTTTGGGGGATTAATATGTGCCTAGGAGACTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 18 834 1 0.9999544 0.9999772 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03916878 0.09775388 0.9254717 0.9315159 NA 0.06846133 NA FALSE NA 0 -0.906 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 rs570104856 1 NA ATT T,C 1.647e-05 2:85362164 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 intron_variant -0.394712 0.06862 0.01413 0.106106 0.5842991 0.047433 4.564088e-11 FALSE 4.47053e-05 ENSE00002395941_004 ENSE00002395941 004 2 85589256 85589425 + 53 75 42 T C 85589294 1958 39 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCCTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362170 85362171 85362171 upstr_intron -15 -0.2641509 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCCTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 817 2134 0.9325587 0.998633 0.9655959 0.9676791 0.8832644 0.9608312 0.9022005 NA NA -0.02827251 0.09643255 0.9254717 0.9315159 NA 0.03408002 NA FALSE NA 0 0.325 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA CTT T,C 3.295e-05 2:85362171 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 intron_variant 0.088557 0.1546 0.02338 0.106106 0.5696679 0.110241 4.564088e-11 FALSE 5.28129e-05 ENSE00002395941_005 ENSE00002395941 005 2 85589256 85589425 + 53 75 42 A C 85589305 1959 50 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTCCAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362181 85362182 85362182 upstr_intron -4 -0.05660377 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTCCAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 3400 243 0.8541694 0.9889567 0.921563 0.9676791 0.8832644 0.9608312 0.9022005 NA NA -0.1066619 0.08675622 0.9254717 0.9315159 NA -0.009952817 NA FALSE NA 0.229 -1.247 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA TAC A,C 8.236e-06 2:85362182 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 splice_region_variant 0.120793 0.89712 0.14248 0.106106 0.6608772 0.21 4.564088e-11 FALSE 4.06131e-06 ENSE00002395941_007 ENSE00002395941 007 2 85589256 85589425 + 53 75 42 A G 85589329 1961 74 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGGTATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362205 85362206 85362206 exon 21 0.28 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGGTATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 646 392 0.9930479 1 0.996524 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03221672 0.09779952 0.9254717 0.9315159 NA 0.06500812 NA FALSE NA 0 -0.71 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA GAT A,G 1.647e-05 2:85362206 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 synonymous_variant -0.727282 0.06442 0.00067 0.706548 0.3867499 0 4.564088e-11 FALSE 8.12163e-06 ENSE00002395941_008 ENSE00002395941 008 2 85589256 85589425 + 53 75 42 T C 85589335 1962 80 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCCCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362211 85362212 85362212 exon 27 0.36 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCCCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 1498 1641 0.9838834 0.9999036 0.9918935 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.02305213 0.09770313 0.9254717 0.9315159 NA 0.06037763 NA FALSE NA 0 -0.13 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA CTC T,C 3.295e-05 2:85362212 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 synonymous_variant -1.073258 0.14381 0.02765 0.706548 0.6153892 0 4.564088e-11 FALSE 2.03042e-05 ENSE00002395941_010 ENSE00002395941 010 2 85589256 85589425 + 53 75 42 A G 85589354 1964 99 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACGAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362230 85362231 85362231 exon -30 0.6133333 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACGAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 191 282 0.9924361 1 0.996218 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03160483 0.09779952 0.9254717 0.9315159 NA 0.06470218 NA FALSE NA 0.169 1.602 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA CAA A,G 8.236e-06 2:85362231 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 missense_variant -0.37664 0.21046 0.10272 0.706548 0.176254 0 4.564088e-11 FALSE 4.06078e-06 ENSE00002395941_011 ENSE00002395941 011 2 85589256 85589425 + 53 75 42 G C 85589358 1965 103 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGACTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362234 85362235 85362235 exon -26 0.6666667 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGACTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 1004 333 0.9945862 0.9983695 0.9964778 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03375493 0.09616903 0.9254717 0.9315159 NA 0.06496198 NA FALSE NA 0.001 1.108 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA AGT G,C 8.236e-06 2:85362235 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 missense_variant 0.253915 0.19083 0.08069 0.706548 0.8328963 0 4.564088e-11 FALSE 4.06085e-06 ENSE00002395941_012 ENSE00002395941 012 2 85589256 85589425 + 53 75 42 G A 85589366 1966 111 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGACTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362242 85362243 85362243 exon -18 0.7733333 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGACTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 834 1299 0.9975515 0.9980727 0.9978121 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03672031 0.09587219 0.9254717 0.9315159 NA 0.06629625 NA FALSE NA 0.554 1.114 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA GGC G,A 2.471e-05 2:85362243 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 missense_variant 2.996432 0.43118 0.16283 0.706548 0.9964845 0 4.564088e-11 FALSE 2.43659e-05 ENSE00002395941_014 ENSE00002395941 014 2 85589256 85589425 + 53 75 42 A G 85589377 1968 122 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGGATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362253 85362254 85362254 exon -7 0.92 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGGATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 462 774 0.9948578 0.9989109 0.9968843 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03402654 0.09671041 0.9254717 0.9315159 NA 0.06536848 NA FALSE NA 0.995 0.559 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA GAA A,G 0.0001153 2:85362254 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 synonymous_variant 0.5291 0.93614 0.51969 0.706548 0.7642451 0 4.564088e-11 FALSE 0.000138082 ENSE00002395941_017 ENSE00002395941 017 2 85589256 85589425 + 53 75 42 C G 85589396 1971 141 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCGACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362272 85362273 85362273 downstr_intron 13 1.317073 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCGACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 394 362 0.9608444 1 0.9804222 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 1.320852e-05 0.09779952 0.9254717 0.9315159 NA 0.04890637 NA FALSE NA 0 0.057 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA CCA C,G 8.236e-06 2:85362273 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 intron_variant 0.149083 0.18959 0.08586 0.106106 0.4640052 0.100601 4.564088e-11 FALSE 4.06213e-06 ENSE00002395941_018 ENSE00002395941 018 2 85589256 85589425 + 53 75 42 G C 85589404 1972 149 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTCGTACCTTCTGCCAGGGCTTTT 85362132 85362302 85362280 85362281 85362281 downstr_intron 21 1.512195 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTCGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 477 145 0.9999137 0.9878088 0.9938612 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.03908247 0.0856083 0.9254717 0.9315159 NA 0.06234538 NA FALSE NA 0 -0.359 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 rs200164897 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TGG G,C 4.118e-05 2:85362281 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 intron_variant -0.481195 0.09708 0.00517 0.099367 0.4095947 0.100429 4.564088e-11 FALSE 4.06448e-05 ENSE00002395941_019 ENSE00002395941 019 2 85589256 85589425 + 53 75 42 T C 85589406 1973 151 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGCACCTTCTGCCAGGGCTTTT 85362132 85362302 85362282 85362283 85362283 downstr_intron 23 1.560976 ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGCACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT mutant NA NA NA NA NA 899 146 0.9756798 0.9588823 0.9672811 0.9676791 0.8832644 0.9608312 0.9022005 NA NA 0.01484861 0.05668182 0.9254717 0.9315159 NA 0.03576521 NA FALSE NA 0 -0.443 . downstream_gene_variant MODIFIER ELMOD3 HGNC 26158 ENST00000466467 1 NA GTA T,C 8.236e-06 2:85362283 ELMOD3 HGNC Symbol protein_coding 37358 ENSG00000115459 ENSE00003459868 intron_variant 0.135729 0.13793 0.03414 0.099367 0.5642949 0.100429 4.564088e-11 FALSE 4.06732e-06 ENSE00002395941_BRK ENSE00002395941 BRK 2 85589256 85589425 + 53 75 42 A,G; T,T NA NA NA ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACTTGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTCCATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT 85362132 85362302 NA NA NA NA NA NA ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACTTGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTCCATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT ATCTTTGGGGGATTAATATGTGCCTAGGAGATTGACCCTTGTCTGTTTTACAGGGTGAAAGATTGTCTGCTGGATATTCTCCATCATATGACAAGGACAAGAGTGTTCTGGCTTTCAGAGGAATCCCTGTATGTATCACCCACAACTTGGTACCTTCTGCCAGGGCTTTT control NA NA NA NA NA 617 276 0 0.09616215 0.04808107 0.9676791 0.8832644 0.9608312 0.9022005 NA NA -0.9608312 -0.8060383 0.9254717 0.9315159 NA -0.8834348 NA TRUE NA NA NA NA NA NA ELMOD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ELMOD3 NA NA NA ENSG00000115459 ENSE00003459868 NA NA NA NA NA NA NA 4.564088e-11 FALSE NA ENSE00002396500_000 ENSE00002396500 000 6 159208108 159208277 - 32 96 42 NA NA NA NA NA TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG 158787075 158787245 NA NA NA NA NA NA TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG natural 22 28 0.9970208 0.9946653 0.9958431 1285 2238 0.9396365 0.8257738 0.8827051 0.9970208 0.9946653 0.9396365 0.8257738 0 0 0 0 0.9958431 0.8827051 0 0 0 FALSE FALSE NA NA NA NA NA EZR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EZR NA NA NA ENSG00000092820 ENSE00003527117 NA NA NA NA NA NA NA 0.9881102 TRUE NA ENSE00002396500_003 ENSE00002396500 003 6 159208108 159208277 - 32 96 42 C T 159208148 2663 130 TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGAATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG 158787075 158787245 158787115 158787116 158787116 exon -9 0.9166667 TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGAATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG mutant NA NA NA NA NA 374 100 1 1 1 0.9970208 0.9946653 0.9396365 0.8257738 NA NA 0.06036354 0.1742262 0.9958431 0.8827051 NA 0.1172949 NA FALSE NA 1 4.733 . missense_variant MODERATE EZR HGNC 12691 ENST00000337147 3/13 rs200605144 1 tolerated(1) benign(0) NA TCC C,T 2.471e-05 6:158787116 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00003527117 missense_variant 2.786087 0.97432 0.94226 0.706548 0.6897376 0 0.9881102 TRUE 2.84294e-05 ENSE00002396500_008 ENSE00002396500 008 6 159208108 159208277 - 32 96 42 G T 159208194 2668 84 TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGACTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG 158787075 158787245 158787161 158787162 158787162 exon 42 0.4375 TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGACTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG mutant NA NA NA NA NA 874 12 0.9991968 1 0.9995984 0.9970208 0.9946653 0.9396365 0.8257738 NA NA 0.05956031 0.1742262 0.9958431 0.8827051 NA 0.1168932 NA FALSE NA 0.983 0.174 . synonymous_variant LOW EZR HGNC 12691 ENST00000337147 3/13 1 NA GGC G,T 8.236e-06 6:158787162 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00003527117 synonymous_variant 1.159511 0.91179 0.71013 0.706548 0.7273385 0 0.9881102 TRUE 4.06101e-06 ENSE00002396500_010 ENSE00002396500 010 6 159208108 159208277 - 32 96 42 C G 159208212 2670 66 TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGCGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG 158787075 158787245 158787179 158787180 158787180 exon 24 0.25 TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGCGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG mutant NA NA NA NA NA 559 183 0.9981448 1 0.9990724 0.9970208 0.9946653 0.9396365 0.8257738 NA NA 0.05850838 0.1742262 0.9958431 0.8827051 NA 0.1163673 NA FALSE NA 1 1.25 . synonymous_variant LOW EZR HGNC 12691 ENST00000337147 3/13 rs372817954 1 NA G:0.0002 G:0 CCC C,G 2.471e-05 6:158787180 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00003527117 synonymous_variant 1.98156 0.92195 0.82505 0.706548 0.6990443 0 0.9881102 TRUE 4.06144e-05 ENSE00002396500_014 ENSE00002396500 014 6 159208108 159208277 - 32 96 42 T C 159208223 2674 55 TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTGTCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG 158787075 158787245 158787190 158787191 158787191 exon 13 0.1354167 TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTGTCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG mutant NA NA NA NA NA 55 206 1 1 1 0.9970208 0.9946653 0.9396365 0.8257738 NA NA 0.06036354 0.1742262 0.9958431 0.8827051 NA 0.1172949 NA FALSE NA 1 3.243 . missense_variant MODERATE EZR HGNC 12691 ENST00000337147 3/13 rs376344139 1 tolerated(0.22) benign(0.052) NA C:0 C:0.0001 ATA T,C 2.471e-05 6:158787191 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00003527117 missense_variant 1.718954 0.77137 0.84535 0.706548 0.9829109 0 0.9881102 TRUE 2.03108e-05 ENSE00002396500_017 ENSE00002396500 017 6 159208108 159208277 - 32 96 42 A G 159208253 2677 25 TGAGTTTCTCATGAGTGTTGAGCCCCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG 158787075 158787245 158787220 158787221 158787221 upstr_intron -18 -0.4047619 TGAGTTTCTCATGAGTGTTGAGCCCCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG mutant NA NA NA NA NA 258 146 0.9942251 0.8675488 0.930887 0.9970208 0.9946653 0.9396365 0.8257738 NA NA 0.05458868 0.04177499 0.9958431 0.8827051 NA 0.04818184 NA FALSE NA 0 -1.962 NA NA NA EZR NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:158787221 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00003527117 intron_variant -0.123335 0.17361 0.11156 0.075938 0.262531 0.0619571 0.9881102 TRUE 4.07924e-06 ENSE00002396500_019 ENSE00002396500 019 6 159208108 159208277 - 32 96 42 C A 159208256 2679 22 TGAGTTTCTCATGAGTGTTGATCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG 158787075 158787245 158787223 158787224 158787224 upstr_intron -21 -0.4761905 TGAGTTTCTCATGAGTGTTGATCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG mutant NA NA NA NA NA 88 108 1 1 1 0.9970208 0.9946653 0.9396365 0.8257738 NA NA 0.06036354 0.1742262 0.9958431 0.8827051 NA 0.1172949 NA FALSE NA 0 -1.63 . intron_variant MODIFIER EZR HGNC 12691 ENST00000337147 2/12 1 NA GCT C,A 1.647e-05 6:158787224 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00003527117 intron_variant 0.514363 0.33979 0.09319 0.075938 0.5308658 0.0619571 0.9881102 TRUE 8.15069e-06 ENSE00002396500_020 ENSE00002396500 020 6 159208108 159208277 - 32 96 42 A C 159208259 2680 19 TGAGTTTCTCATGAGTGTGGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG 158787075 158787245 158787226 158787227 158787227 upstr_intron -24 -0.547619 TGAGTTTCTCATGAGTGTGGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG TGAGTTTCTCATGAGTGTTGAGCCTCTCTCTCTCTCACGCAGGTGGTAAAGACTATCGGCCTCCGGGAAGTGTGGTACTTTGGCCTCCACTATGTGGATAATAAAGGATTTCCTACCTGGCTGAAGCTGGATAAGAAGGCAAGTCAGGATTAACTATTTACAGGCTGTGG mutant NA NA NA NA NA 182 59 0.8 0.9511075 0.8755538 0.9970208 0.9946653 0.9396365 0.8257738 NA NA -0.1396365 0.1253337 0.9958431 0.8827051 NA -0.007151375 NA FALSE NA 0 -0.825 . intron_variant MODIFIER EZR HGNC 12691 ENST00000337147 2/12 1 NA CAA A,C 3.295e-05 6:158787227 EZR HGNC Symbol protein_coding 53671 ENSG00000092820 ENSE00003527117 intron_variant 0.030693 0.25192 0.05495 0.075938 0.4478428 0.0619571 0.9881102 TRUE 3.66972e-05 ENSE00002396693_000 ENSE00002396693 000 1 164790729 164790898 + 45 90 35 NA NA NA NA NA CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 NA NA NA NA NA NA CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT natural 113 59 0.9204728 0.9919133 0.9561931 1132 1639 0.9372616 0.8309497 0.8841057 0.9204728 0.9919133 0.9372616 0.8309497 0 0 0 0 0.9561931 0.8841057 0 0 0 FALSE FALSE NA NA NA NA NA PBX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PBX1 NA NA NA ENSG00000185630 ENSE00003699196 NA NA NA NA NA NA NA 0.9105822 TRUE NA ENSE00002396693_001 ENSE00002396693 001 1 164790729 164790898 + 45 90 35 T C 164790758 4148 30 CACCTCTCTGACTAATTTTCTCTCTGTTACTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821520 164821521 164821521 upstr_intron -16 -0.3333333 CACCTCTCTGACTAATTTTCTCTCTGTTACTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 72 554 0.9953357 1 0.9976679 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.05807409 0.1690503 0.9561931 0.8841057 NA 0.1135622 NA FALSE NA 1 1.54 . intron_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 7/8 1 NA ATT T,C 3.295e-05 1:164821521 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 intron_variant 0.511496 0.99129 0.92475 0.062308 0.7579173 0.772 0.9105822 TRUE 2.03269e-05 ENSE00002396693_003 ENSE00002396693 003 1 164790729 164790898 + 45 90 35 T C 164790785 4150 57 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTCCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821547 164821548 164821548 exon 12 0.1333333 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTCCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 110 177 1 0.997155 0.9985775 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.1662053 0.9561931 0.8841057 NA 0.1144718 NA FALSE NA 1 4.765 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 1 NA TTC T,C 8.236e-06 1:164821548 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant -0.356203 0.99185 0.97354 0.706548 0.9936712 0 0.9105822 TRUE 4.06573e-06 ENSE00002396693_005 ENSE00002396693 005 1 164790729 164790898 + 45 90 35 A G 164790795 4152 67 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTGTCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821557 164821558 164821558 exon 22 0.2444444 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTGTCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 320 325 0.9971359 0.9977436 0.9974398 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.05987424 0.1667939 0.9561931 0.8841057 NA 0.1133341 NA FALSE NA 1 8.833 NA NA NA PBX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:164821558 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant 1.251 0.99209 0.99219 0.706548 0.9943658 0 0.9105822 TRUE 8.13127e-06 ENSE00002396693_007 ENSE00002396693 007 1 164790729 164790898 + 45 90 35 A T 164790812 4154 84 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGTTACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821574 164821575 164821575 exon 39 0.4333333 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGTTACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 239 509 0.9994823 0.8793661 0.9394242 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06222065 0.04841638 0.9561931 0.8841057 NA 0.05531852 NA FALSE NA 1 5.756 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 1 NA GAT A,T 1.647e-05 1:164821575 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant -0.551791 0.98697 0.96969 0.706548 0.6870072 0 0.9105822 TRUE 2.4394e-05 ENSE00002396693_009 ENSE00002396693 009 1 164790729 164790898 + 45 90 35 G T 164790823 4156 95 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGTACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821585 164821586 164821586 exon -41 0.5555556 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGTACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant 10 11 0.9991048 0.9981278 0.9986163 NA NA NA NA NA 0.9204728 0.9919133 0.9372616 0.8309497 0.07863199 0.006214513 NA NA 0.9561931 0.8841057 0.04242325 NA NA NA FALSE 1 5.162 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 rs201029742&COSM1335884 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GGA G,T 8.236e-06 1:164821586 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant 2.180258 0.99 0.97777 0.706548 0.9795658 0 0.9105822 TRUE 4.0654e-06 ENSE00002396693_010 ENSE00002396693 010 1 164790729 164790898 + 45 90 35 A G 164790824 4157 96 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGGCTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821586 164821587 164821587 exon -40 0.5666667 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGGCTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 63 97 1 1 1 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.1690503 0.9561931 0.8841057 NA 0.1158943 NA FALSE NA 0.982 0.135 rs188237782 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 rs188237782 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GAC A,G 8.236e-06 1:164821587 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 synonymous_variant 0.33934 0.97514 0.8057 0.706548 0.6944499 0 0.9105822 TRUE 4.06527e-06 ENSE00002396693_011 ENSE00002396693 011 1 164790729 164790898 + 45 90 35 C T 164790827 4158 99 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTTGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821589 164821590 164821590 exon -37 0.6 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTTGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 382 287 0.9963697 0.9743616 0.9853656 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.05910806 0.1434119 0.9561931 0.8841057 NA 0.10126 NA FALSE NA 1 0.777 rs143289090 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 rs143289090 1 NA T:0 T:0.0001 TCG C,T 1.647e-05 1:164821590 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 synonymous_variant 1.757853 0.97474 0.87756 0.706548 0.732973 0 0.9105822 TRUE 1.21961e-05 ENSE00002396693_012 ENSE00002396693 012 1 164790729 164790898 + 45 90 35 G A 164790828 4159 100 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCACAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821590 164821591 164821591 exon -36 0.6111111 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCACAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant 17 32 0.9697922 0.85 0.9098961 NA NA NA NA NA 0.9204728 0.9919133 0.9372616 0.8309497 0.04931941 -0.1419133 NA NA 0.9561931 0.8841057 -0.04629696 NA NA NA FALSE 1 2.221 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 rs541105414&COSM1335885 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGC G,A 8.236e-06 1:164821591 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant 2.603598 0.97475 0.90218 0.706548 0.9853014 0 0.9105822 TRUE 8.13121e-06 ENSE00002396693_013 ENSE00002396693 013 1 164790729 164790898 + 45 90 35 G A 164790831 4160 103 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAACCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821593 164821594 164821594 exon -33 0.6444444 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAACCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 62 99 1 0.9805946 0.9902973 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.1496449 0.9561931 0.8841057 NA 0.1061916 NA FALSE NA 1 9.339 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 rs564455203 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGC G,A 2.471e-05 1:164821594 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant 3.247297 0.99469 0.99439 0.706548 0.9974864 0 0.9105822 TRUE 2.03265e-05 ENSE00002396693_014 ENSE00002396693 014 1 164790729 164790898 + 45 90 35 C T 164790832 4161 104 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGTCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821594 164821595 164821595 exon -32 0.6555556 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGTCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 44 1235 0.9952275 0.9987578 0.9969927 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.05796591 0.1678081 0.9561931 0.8841057 NA 0.112887 NA FALSE NA 1 2.978 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 1 NA GCC C,T 8.236e-06 1:164821595 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant 3.592611 0.99458 0.97342 0.706548 0.9978061 0 0.9105822 TRUE 4.06524e-06 ENSE00002396693_015 ENSE00002396693 015 1 164790729 164790898 + 45 90 35 A G 164790844 4162 116 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTGCAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821606 164821607 164821607 exon -20 0.7888889 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTGCAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 85 50 1 1 1 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.1690503 0.9561931 0.8841057 NA 0.1158943 NA FALSE NA 1 8.833 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 1 NA TAC A,G 8.236e-06 1:164821607 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant 3.803282 0.99316 0.99463 0.706548 0.9971394 0 0.9105822 TRUE 4.06544e-06 ENSE00002396693_017 ENSE00002396693 017 1 164790729 164790898 + 45 90 35 G A 164790851 4164 123 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCACAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821613 164821614 164821614 exon -13 0.8666667 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCACAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 246 119 0.9833396 1 0.9916698 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.04607798 0.1690503 0.9561931 0.8841057 NA 0.1075641 NA FALSE NA 1 2.645 NA NA NA PBX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:164821614 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 synonymous_variant 1.134451 0.97621 0.89997 0.706548 0.7015779 0 0.9105822 TRUE 3.65922e-05 ENSE00002396693_018 ENSE00002396693 018 1 164790729 164790898 + 45 90 35 A G 164790853 4165 125 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCGGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821615 164821616 164821616 exon -11 0.8888889 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCGGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant 101 54 0.8516013 0.9848131 0.9182072 62 266 1 1 1 0.9204728 0.9919133 0.9372616 0.8309497 -0.06887148 -0.007100272 0.06273837 0.1690503 0.9561931 0.8841057 -0.03798587 0.1158943 0.1538802 FALSE FALSE 1 8.833 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 1 NA CAG A,G 8.236e-06 1:164821616 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant 0.963586 0.99316 0.99463 0.706548 0.5075938 0 0.9105822 TRUE 8.13107e-06 ENSE00002396693_019 ENSE00002396693 019 1 164790729 164790898 + 45 90 35 G A 164790855 4166 127 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGAGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821617 164821618 164821618 exon -9 0.9111111 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGAGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant 25 14 0.9006222 0.9835019 0.942062 759 184 0.9934751 0.9804073 0.9869412 0.9204728 0.9919133 0.9372616 0.8309497 -0.01985063 -0.008411446 0.05621344 0.1494576 0.9561931 0.8841057 -0.01413104 0.1028355 0.1169666 FALSE FALSE 1 5.334 rs146653553 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/9 rs146653553&COSM3477592 1 NA A:0.0002 A:0 GGG G,A 8.236e-06 1:164821618 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 missense_variant 2.277779 0.99469 0.97578 0.706548 0.9719143 0 0.9105822 TRUE NA ENSE00002396693_021 ENSE00002396693 021 1 164790729 164790898 + 45 90 35 A G 164790872 4168 144 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAGCAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 164821634 164821635 164821635 downstr_intron 9 1.264706 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAGCAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 21 448 1 1 1 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.1690503 0.9561931 0.8841057 NA 0.1158943 NA FALSE NA 1 4.513 . intron_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/8 rs544098915 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAC A,G 1.647e-05 1:164821635 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 intron_variant 1.76173 0.9795 0.97692 0.062308 0.7381901 0.4435 0.9105822 TRUE 4.06812e-06 ENSE00002396693_022 ENSE00002396693 022 1 164790729 164790898 + 45 90 35 C A 164790878 4169 150 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCACCCCCACCCCCTGCTTTGTT 164821491 164821661 164821640 164821641 164821641 downstr_intron 15 1.441176 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCACCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant 14 25 0.966328 0.8121384 0.8892332 92 297 1 0.997864 0.998932 0.9204728 0.9919133 0.9372616 0.8309497 0.04585519 -0.1797749 0.06273837 0.1669143 0.9561931 0.8841057 -0.06695986 0.1148263 0.1817862 FALSE FALSE 0.061 0.752 rs139076935 intron_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/8 rs139076935 1 A:0.0008 A:0 A:0 NA A:0.004 A:0 A:0 CCC C,A 5.766e-05 1:164821641 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 intron_variant 0.038912 0.98655 0.8248 0.062308 0.4221993 0.956997 0.9105822 TRUE 3.6662e-05 ENSE00002396693_023 ENSE00002396693 023 1 164790729 164790898 + 45 90 35 C T 164790880 4170 152 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCTCCCACCCCCTGCTTTGTT 164821491 164821661 164821642 164821643 164821643 downstr_intron 17 1.5 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCTCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 1097 542 0.9386183 0.841509 0.8900637 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.001356663 0.01055932 0.9561931 0.8841057 NA 0.005957994 NA FALSE NA 0.003 0.662 . intron_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/8 1 NA CCC C,T 8.237e-06 1:164821643 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 intron_variant -0.613741 0.23366 0.06443 0.062308 0.4803281 0.046323 0.9105822 TRUE 4.07355e-06 ENSE00002396693_024 ENSE00002396693 024 1 164790729 164790898 + 45 90 35 C A 164790882 4171 154 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCACACCCCCTGCTTTGTT 164821491 164821661 164821644 164821645 164821645 downstr_intron 19 1.558824 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCACACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 361 1470 1 0.9998924 0.9999462 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.1689427 0.9561931 0.8841057 NA 0.1158405 NA FALSE NA 0 1.131 . intron_variant&non_coding_transcript_variant MODIFIER PBX1 HGNC 8632 ENST00000468104 8/8 1 NA CCC C,A 8.238e-06 1:164821645 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 intron_variant -0.546202 0.32201 0.40201 0.062308 0.4748436 0.046323 0.9105822 TRUE 4.0785e-06 ENSE00002396693_025 ENSE00002396693 025 1 164790729 164790898 + 45 90 35 C T 164790883 4172 155 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCTACCCCCTGCTTTGTT 164821491 164821661 164821645 164821646 164821646 downstr_intron 20 1.588235 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCTACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 211 15 1 1 1 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.1690503 0.9561931 0.8841057 NA 0.1158943 NA FALSE NA 0.001 0.955 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:164821646 PBX1 HGNC Symbol protein_coding 343712 ENSG00000185630 ENSE00003699196 intron_variant -0.599748 0.24993 0.14459 0.062308 0.5040811 0.046323 0.9105822 TRUE NA ENSE00002396693_026 ENSE00002396693 026 1 164790729 164790898 + 45 90 35 C A 164790883 4173 155 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCAACCCCCTGCTTTGTT 164821491 164821661 164821645 164821646 164821646 downstr_intron 20 1.588235 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCAACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 437 611 1 0.9946847 0.9973423 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.163735 0.9561931 0.8841057 NA 0.1132367 NA FALSE NA 0.001 0.955 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003699196 intron_variant -0.631154 0.28668 0.28104 0.062308 0.4752451 0.046323 0.008565806 FALSE NA ENSE00002396693_027 ENSE00002396693 027 1 164790729 164790898 + 45 90 35 C G 164790883 4174 155 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCGACCCCCTGCTTTGTT 164821491 164821661 164821645 164821646 164821646 downstr_intron 20 1.588235 CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCGACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT mutant NA NA NA NA NA 46 481 1 1 1 0.9204728 0.9919133 0.9372616 0.8309497 NA NA 0.06273837 0.1690503 0.9561931 0.8841057 NA 0.1158943 NA FALSE NA 0.001 0.955 NA NA NA PBX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PBX1 NA NA NA ENSG00000185630 ENSE00003699196 intron_variant -0.782452 0.28603 0.37685 0.062308 0.3986827 0.046323 0.9105822 TRUE NA ENSE00002396693_BRK ENSE00002396693 BRK 1 164790729 164790898 + 45 90 35 A,G; T,T NA NA NA CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTTTGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTCCAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT 164821491 164821661 NA NA NA NA NA NA CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTTTGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTCCAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT CACCTCTCTGACTAATTTTCTCTCTGTTATTGTTCATCTGTTTAGGTGGATACCCTTCGCCATGTTATCAGCCAGACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGTGTAAGAAAACAAGCCCCCCCACCCCCTGCTTTGTT control 85 22 0 0 0 21 200 0 0 0 0.9204728 0.9919133 0.9372616 0.8309497 -0.9204728 -0.9919133 -0.9372616 -0.8309497 0.9561931 0.8841057 -0.9561931 -0.8841057 0.07208739 TRUE TRUE NA NA NA NA NA PBX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PBX1 NA NA NA ENSG00000185630 ENSE00003699196 NA NA NA NA NA NA NA 0.9105822 TRUE NA ENSE00002396766_000 ENSE00002396766 000 3 197431925 197432094 - 38 84 48 NA NA NA NA NA TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG 197705053 197705223 NA NA NA NA NA NA TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG natural 22 42 0.9883336 0.9351024 0.961718 860 547 0.9997125 0.9924091 0.9960608 0.9883336 0.9351024 0.9997125 0.9924091 0 0 0 0 0.961718 0.9960608 0 0 0 FALSE FALSE NA NA NA NA NA KIAA0226 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RUBCN NA NA NA ENSG00000145016 ENSE00003517503 NA NA NA NA NA NA NA NA NA NA ENSE00002396766_010 ENSE00002396766 010 3 197431925 197432094 - 38 84 48 G A 197432001 4268 94 TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCTGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG 197705053 197705223 197705129 197705130 197705130 exon -39 0.547619 TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCTGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG mutant NA NA NA NA NA 44 64 0.9990609 1 0.9995305 0.9883336 0.9351024 0.9997125 0.9924091 NA NA -0.0006516068 0.007590851 0.961718 0.9960608 NA 0.003469622 NA FALSE NA 1 6.594 . missense_variant MODERATE KIAA0226 HGNC 28991 ENST00000296343 3/20 rs546982384&COSM1422099&COSM1422100 1 deleterious(0) probably_damaging(0.999) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 2.481e-05 3:197705130 RUBCN HGNC Symbol protein_coding 78334 ENSG00000145016 ENSE00003517503 missense_variant 7.097185 0.9892 0.98243 0.67177 0.9990614 0 NA NA 1.62612e-05 ENSE00002396766_017 ENSE00002396766 017 3 197431925 197432094 - 38 84 48 G A 197432035 4275 60 TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGTCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG 197705053 197705223 197705163 197705164 197705164 exon 12 0.1428571 TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGTCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG mutant NA NA NA NA NA 35 45 1 1 1 0.9883336 0.9351024 0.9997125 0.9924091 NA NA 0.0002874706 0.007590851 0.961718 0.9960608 NA 0.003939161 NA FALSE NA 0.962 0.424 . synonymous_variant LOW KIAA0226 HGNC 28991 ENST00000296343 3/20 1 NA GGC G,A 4.135e-05 3:197705164 RUBCN HGNC Symbol protein_coding 78334 ENSG00000145016 ENSE00003517503 synonymous_variant 1.309428 0.97526 0.78039 0.67177 0.6997724 0 NA NA 2.84588e-05 ENSE00002396766_033 ENSE00002396766 033 3 197431925 197432094 - 38 84 48 A T 197432070 4291 25 TGGTCCAGAATGGTCGTGATTTGCACATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG 197705053 197705223 197705198 197705199 197705199 upstr_intron -24 -0.4791667 TGGTCCAGAATGGTCGTGATTTGCACATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG mutant NA NA NA NA NA 213 190 0.941979 1 0.9709895 0.9883336 0.9351024 0.9997125 0.9924091 NA NA -0.05773356 0.007590851 0.961718 0.9960608 NA -0.02507135 NA FALSE NA 0.843 3.783 rs147075089 intron_variant MODIFIER KIAA0226 HGNC 28991 ENST00000296343 2/19 rs147075089 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 GAG A,T 8.268e-06 3:197705199 RUBCN HGNC Symbol protein_coding 78334 ENSG00000145016 ENSE00003517503 intron_variant 1.07549 0.9698 0.91161 0.069865 0.8257372 0.907798 NA NA NA ENSE00002396766_034 ENSE00002396766 034 3 197431925 197432094 - 38 84 48 G A 197432080 4292 15 TGGTCCAGAATGGTTGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG 197705053 197705223 197705208 197705209 197705209 upstr_intron -34 -0.6875 TGGTCCAGAATGGTTGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG TGGTCCAGAATGGTCGTGATTTGCTCATTGTATGTGTTCCCTTTGCAGGCGTGCCGCCGCCAGACGGATTACTGGCAGTTCGTGAAAGACATCCGGTGGCTCAGTCCCCACTCAGCCCTTCACGTGGAGAAGGTAAGAGTGAGAGCAGAGCGGCTGTGCTGGCAGAGCTG mutant NA NA NA NA NA 25 603 1 1 1 0.9883336 0.9351024 0.9997125 0.9924091 NA NA 0.0002874706 0.007590851 0.961718 0.9960608 NA 0.003939161 NA FALSE NA 0.045 0.002 NA NA NA KIAA0226 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:197705209 RUBCN HGNC Symbol protein_coding 78334 ENSG00000145016 ENSE00003517503 intron_variant 0.553173 0.9488 0.02863 0.069865 0.8613494 0.13768 NA NA 6.60382e-05 ENSE00002396849_000 ENSE00002396849 000 2 69302666 69302835 + 56 69 45 NA NA NA NA NA GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 NA NA NA NA NA NA GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG natural 121 119 0.9882263 0.9956351 0.9919307 2562 3459 0.9959423 0.8393349 0.9176386 0.9882263 0.9956351 0.9959423 0.8393349 0 0 0 0 0.9919307 0.9176386 0 0 0 FALSE FALSE NA NA NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00003611927 NA NA NA NA NA NA NA 0.9852832 TRUE NA ENSE00002396849_002 ENSE00002396849 002 2 69302666 69302835 + 56 69 45 G C 69302685 1397 20 GAGGAGTTCATTTGTCACTCCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075552 69075553 69075553 upstr_intron -37 -0.6428571 GAGGAGTTCATTTGTCACTCCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 224 305 0.9998161 0.9994811 0.9996486 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.003873858 0.1601462 0.9919307 0.9176386 NA 0.08201002 NA FALSE NA 0.001 0.216 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 6/9 1 NA TGC G,C 8.236e-06 2:69075553 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 intron_variant 0.146208 0.24234 0.0904 0.06567 0.6743603 0.0656782 0.9852832 TRUE 8.13173e-06 ENSE00002396849_004 ENSE00002396849 004 2 69302666 69302835 + 56 69 45 G A 69302700 1399 35 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATATCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075567 69075568 69075568 upstr_intron -22 -0.375 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATATCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 946 337 0.9948418 0.9722689 0.9835554 0.9882263 0.9956351 0.9959423 0.8393349 NA NA -0.001100465 0.132934 0.9919307 0.9176386 NA 0.06591675 NA FALSE NA 0 -0.531 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 6/9 rs374047013 1 NA A:0.0002 A:0 TGT G,A 3.295e-05 2:69075568 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 intron_variant 0.46667 0.18728 0.02956 0.06567 0.6758919 0.0837489 0.9852832 TRUE 1.62599e-05 ENSE00002396849_005 ENSE00002396849 005 2 69302666 69302835 + 56 69 45 C A 69302707 1400 42 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTATTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075574 69075575 69075575 upstr_intron -15 -0.25 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTATTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 459 103 1 0.9263884 0.9631942 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.004057724 0.08705348 0.9919307 0.9176386 NA 0.0455556 NA FALSE NA 0 -0.047 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 6/9 1 NA TCT C,A 8.236e-06 2:69075575 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 intron_variant 0.373921 0.22561 0.08798 0.06567 0.5317131 0.0957603 0.9852832 TRUE 8.12797e-06 ENSE00002396849_006 ENSE00002396849 006 2 69302666 69302835 + 56 69 45 T G 69302713 1401 48 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCGTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075580 69075581 69075581 upstr_intron -9 -0.1428571 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCGTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 16 501 1 0.9995429 0.9997715 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.004057724 0.160208 0.9919307 0.9176386 NA 0.08213286 NA FALSE NA 0 0.574 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 6/9 rs367932892 1 NA G:0 G:0.0001 CTT T,G 1.647e-05 2:69075581 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 intron_variant 0.603499 0.1892 0.23413 0.06567 0.6434325 0.152081 0.9852832 TRUE 2.03184e-05 ENSE00002396849_009 ENSE00002396849 009 2 69302666 69302835 + 56 69 45 G C 69302765 1404 100 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGCTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075632 69075633 69075633 exon -26 0.6376812 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGCTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 905 169 0.9983024 0.9886009 0.9934517 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.002360106 0.149266 0.9919307 0.9176386 NA 0.07581306 NA FALSE NA 1 8.142 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/10 1 NA GGT G,C 8.236e-06 2:69075633 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 missense_variant 5.766923 0.98758 0.9819 0.706298 0.9985842 0 0.9852832 TRUE 8.12433e-06 ENSE00002396849_011 ENSE00002396849 011 2 69302666 69302835 + 56 69 45 T C 69302781 1406 116 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAACGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075648 69075649 69075649 exon -10 0.8695652 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAACGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 125 217 1 0.9858942 0.9929471 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.004057724 0.1465593 0.9919307 0.9176386 NA 0.0753085 NA FALSE NA 1 2.417 rs140035765 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/10 rs140035765 1 NA C:0.0002 C:0 ATG T,C 3.295e-05 2:69075649 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 synonymous_variant 0.314452 0.95758 0.81176 0.706298 0.5345765 0 0.9852832 TRUE 3.65607e-05 ENSE00002396849_013 ENSE00002396849 013 2 69302666 69302835 + 56 69 45 G A 69302796 1408 131 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGATAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075663 69075664 69075664 downstr_intron 6 1.136364 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGATAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 178 159 0.9974287 0.990354 0.9938914 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.00148643 0.1510191 0.9919307 0.9176386 NA 0.07625277 NA FALSE NA 0 -0.755 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ANTXR1 HGNC 21014 ENST00000463335 7/9 1 NA GGT G,A 2.471e-05 2:69075664 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 splice_region_variant 0.715989 0.09921 0.00283 0.06567 0.5696302 0.142954 0.9852832 TRUE 2.03148e-05 ENSE00002396849_014 ENSE00002396849 014 2 69302666 69302835 + 56 69 45 T C 69302797 1409 132 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGCAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075664 69075665 69075665 downstr_intron 7 1.159091 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGCAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 850 273 0.9488557 0.9888305 0.9688431 0.9882263 0.9956351 0.9959423 0.8393349 NA NA -0.04708661 0.1494955 0.9919307 0.9176386 NA 0.05120446 NA FALSE NA 0 -2.068 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ANTXR1 HGNC 21014 ENST00000463335 7/9 rs552435676 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GTA T,C 4.942e-05 2:69075665 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 splice_region_variant 0.375826 0.11718 0.02501 0.06567 0.6244283 0.142954 0.9852832 TRUE 6.09439e-05 ENSE00002396849_015 ENSE00002396849 015 2 69302666 69302835 + 56 69 45 T G 69302800 1410 135 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAAGGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG 69075533 69075703 69075667 69075668 69075668 downstr_intron 10 1.227273 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAAGGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 210 698 1 0.9969471 0.9984736 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.004057724 0.1576122 0.9919307 0.9176386 NA 0.08083495 NA FALSE NA 0 0.342 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/9 1 NA ATG T,G 8.237e-06 2:69075668 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 intron_variant 1.306623 0.16617 0.13948 0.06567 0.7169821 0.127199 0.9852832 TRUE 1.21896e-05 ENSE00002396849_016 ENSE00002396849 016 2 69302666 69302835 + 56 69 45 G C 69302818 1411 153 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGCAGCATACTGAGCTTGTG 69075533 69075703 69075685 69075686 69075686 downstr_intron 28 1.636364 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGCAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 805 1321 1 0.999827 0.9999135 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.004057724 0.160492 0.9919307 0.9176386 NA 0.08227488 NA FALSE NA 0.24 0.396 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:69075686 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 intron_variant 0.695923 0.19054 0.07506 0.053691 0.7900744 0.0771045 0.9852832 TRUE 1.62571e-05 ENSE00002396849_017 ENSE00002396849 017 2 69302666 69302835 + 56 69 45 G T 69302818 1412 153 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGTAGCATACTGAGCTTGTG 69075533 69075703 69075685 69075686 69075686 downstr_intron 28 1.636364 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGTAGCATACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 144 1204 0.9399234 0.9999684 0.9699459 0.9882263 0.9956351 0.9959423 0.8393349 NA NA -0.05601891 0.1606335 0.9919307 0.9176386 NA 0.05230727 NA FALSE NA 0.24 0.396 NA NA NA ANTXR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANTXR1 NA NA NA ENSG00000169604 ENSE00003611927 intron_variant 0.804885 0.18793 0.07181 0.053691 0.8025017 0.0771045 0.9852832 TRUE 4.06428e-06 ENSE00002396849_018 ENSE00002396849 018 2 69302666 69302835 + 56 69 45 A G 69302822 1413 157 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCGTACTGAGCTTGTG 69075533 69075703 69075689 69075690 69075690 downstr_intron 32 1.727273 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCGTACTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 624 311 1 0.9959098 0.9979549 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 0.004057724 0.1565748 0.9919307 0.9176386 NA 0.08031629 NA FALSE NA 0.001 0.9 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/9 1 NA CAT A,G 8.236e-06 2:69075690 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 intron_variant 0.727425 0.146 0.03198 0.053691 0.8461901 0.0546893 0.9852832 TRUE 1.21941e-05 ENSE00002396849_019 ENSE00002396849 019 2 69302666 69302835 + 56 69 45 A G 69302824 1414 159 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATGCTGAGCTTGTG 69075533 69075703 69075691 69075692 69075692 downstr_intron 34 1.772727 GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATGCTGAGCTTGTG GAGGAGTTCATTTGTCACTGCTTCTCTTTCTAATGTCCTTTCTTTCCTTTTCCCAGGCTAATAGGTCTCGAGATCTTGGTGCAATTGTTTACTGTGTTGGTGTGAAAGATTTCAATGAGACACAGGTATGGTAATGGATTTCCTCAGGTTTGGAGCATACTGAGCTTGTG mutant NA NA NA NA NA 190 500 0.9960348 1 0.9980174 0.9882263 0.9956351 0.9959423 0.8393349 NA NA 9.252898e-05 0.1606651 0.9919307 0.9176386 NA 0.0803788 NA FALSE NA 0 -0.013 . intron_variant&non_coding_transcript_variant MODIFIER ANTXR1 HGNC 21014 ENST00000463335 7/9 1 NA TAC A,G 8.236e-06 2:69075692 ANTXR1 HGNC Symbol protein_coding 236149 ENSG00000169604 ENSE00003611927 intron_variant 0.805179 0.15096 0.03815 0.053691 0.8537706 0.0546893 0.9852832 TRUE 8.12916e-06 ENSE00002396852_000 ENSE00002396852 000 12 123888060 123888229 + 60 60 50 NA NA NA NA NA TGAGCTCTTCCAGCTTTAGCTATGATGCAGCAAGCACAGCAGCCCCTTACCTTCATTCCTTCTTCCTTCCCACTTTCAATCAATTCATCTATTCTTTTCCTTTCTTCAGACTGGGCAGAGAGAAAGAAAAACAGCATCAGTATCTTCTCCTAGGCCCATCGTGCGTAGCT 123403512 123403682 NA NA NA NA NA NA AGCTACGCACGATGGGCCTAGGAGAAGATACTGATGCTGTTTTTCTTTCTCTCTGCCCAGTCTGAAGAAAGGAAAAGAATAGATGAATTGATTGAAAGTGGGAAGGAAGAAGGAATGAAGGTAAGGGGCTGCTGTGCTTGCTGCATCATAGCTAAAGCTGGAAGAGCTCA AGCTACGCACGATGGGCCTAGGAGAAGATACTGATGCTGTTTTTCTTTCTCTCTGCCCAGTCTGAAGAAAGGAAAAGAATAGATGAATTGATTGAAAGTGGGAAGGAAGAAGGAATGAAGGTAAGGGGCTGCTGTGCTTGCTGCATCATAGCTAAAGCTGGAAGAGCTCA natural 61 118 0.9948952 0.9819089 0.988402 1375 1196 0.9841329 0.9854435 0.9847882 0.9948952 0.9819089 0.9841329 0.9854435 0 0 0 0 0.988402 0.9847882 0 0 0 FALSE FALSE NA NA NA NA NA SETD8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KMT5A NA NA NA ENSG00000183955 ENSE00003645811 NA NA NA NA NA NA NA NA NA NA ENSE00002396852_016 ENSE00002396852 016 12 123888060 123888229 + 60 60 50 G C 123888184 3817 125 TGAGCTCTTCCAGCTTTAGCTATGATGCAGCAAGCACAGCAGCCCGTTACCTTCATTCCTTCTTCCTTCCCACTTTCAATCAATTCATCTATTCTTTTCCTTTCTTCAGACTGGGCAGAGAGAAAGAAAAACAGCATCAGTATCTTCTCCTAGGCCCATCGTGCGTAGCT 123403512 123403682 123403636 123403637 123403637 downstr_intron 5 1.102041 AGCTACGCACGATGGGCCTAGGAGAAGATACTGATGCTGTTTTTCTTTCTCTCTGCCCAGTCTGAAGAAAGGAAAAGAATAGATGAATTGATTGAAAGTGGGAAGGAAGAAGGAATGAAGGTAACGGGCTGCTGTGCTTGCTGCATCATAGCTAAAGCTGGAAGAGCTCA AGCTACGCACGATGGGCCTAGGAGAAGATACTGATGCTGTTTTTCTTTCTCTCTGCCCAGTCTGAAGAAAGGAAAAGAATAGATGAATTGATTGAAAGTGGGAAGGAAGAAGGAATGAAGGTAAGGGGCTGCTGTGCTTGCTGCATCATAGCTAAAGCTGGAAGAGCTCA mutant 17 18 0.85 0.85 0.85 NA NA NA NA NA 0.9948952 0.9819089 0.9841329 0.9854435 -0.1448952 -0.1319089 NA NA 0.988402 0.9847882 -0.138402 NA NA NA FALSE 0.836 3.058 . splice_region_variant&intron_variant LOW SETD8 HGNC 29489 ENST00000437502 5/6 1 NA AGG G,C 8.236e-06 12:123403637 KMT5A HGNC Symbol protein_coding 25585 ENSG00000183955 ENSE00003645811 splice_region_variant 1.192601 0.98585 0.6871 0.095506 0.9256914 0.960717 NA NA NA ENSE00002396852_018 ENSE00002396852 018 12 123888060 123888229 + 60 60 50 C T 123888188 3819 129 TGAGCTCTTCCAGCTTTAGCTATGATGCAGCAAGCACAGCAACCCCTTACCTTCATTCCTTCTTCCTTCCCACTTTCAATCAATTCATCTATTCTTTTCCTTTCTTCAGACTGGGCAGAGAGAAAGAAAAACAGCATCAGTATCTTCTCCTAGGCCCATCGTGCGTAGCT 123403512 123403682 123403640 123403641 123403641 downstr_intron 9 1.183673 AGCTACGCACGATGGGCCTAGGAGAAGATACTGATGCTGTTTTTCTTTCTCTCTGCCCAGTCTGAAGAAAGGAAAAGAATAGATGAATTGATTGAAAGTGGGAAGGAAGAAGGAATGAAGGTAAGGGGTTGCTGTGCTTGCTGCATCATAGCTAAAGCTGGAAGAGCTCA AGCTACGCACGATGGGCCTAGGAGAAGATACTGATGCTGTTTTTCTTTCTCTCTGCCCAGTCTGAAGAAAGGAAAAGAATAGATGAATTGATTGAAAGTGGGAAGGAAGAAGGAATGAAGGTAAGGGGCTGCTGTGCTTGCTGCATCATAGCTAAAGCTGGAAGAGCTCA mutant NA NA NA NA NA 891 902 0.9925215 1 0.9962607 0.9948952 0.9819089 0.9841329 0.9854435 NA NA 0.008388582 0.01455647 0.988402 0.9847882 NA 0.01147253 NA FALSE NA 0.086 0.258 . intron_variant MODIFIER SETD8 HGNC 29489 ENST00000437502 5/6 rs535977339 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCT C,T 0.00014 12:123403641 KMT5A HGNC Symbol protein_coding 25585 ENSG00000183955 ENSE00003645811 intron_variant 0.384799 0.1868 0.00956 0.095506 0.4685071 0.0842516 NA NA NA ENSE00002397014_000 ENSE00002397014 000 5 142258885 142259054 + 54 72 44 NA NA NA NA NA TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 NA NA NA NA NA NA TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT natural NA NA NA NA NA 1056 1272 0.9716947 0.9981466 0.9849206 NA NA 0.9716947 0.9981466 NA NA 0 0 NA 0.9849206 NA 0 NA FALSE NA NA NA NA NA NA ARHGAP26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGAP26 NA NA NA ENSG00000145819 ENSE00003660609 NA NA NA NA NA NA NA 0.9988598 TRUE NA ENSE00002397014_002 ENSE00002397014 002 5 142258885 142259054 + 54 72 44 G T 142258924 1425 40 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTTTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879358 142879359 142879359 upstr_intron -15 -0.2592593 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTTTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 151 184 1 0.9997929 0.9998965 NA NA 0.9716947 0.9981466 NA NA 0.02830533 0.001646318 NA 0.9849206 NA 0.01497583 NA FALSE NA 0.01 -0.013 . intron_variant MODIFIER ARHGAP26 HGNC 17073 ENST00000378013 3/5 1 NA TGT G,T 8.236e-06 5:142879359 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 intron_variant 0.461696 0.19506 0.01319 0.053691 0.6335901 0.139109 0.9988598 TRUE 4.06355e-06 ENSE00002397014_005 ENSE00002397014 005 5 142258885 142259054 + 54 72 44 C T 142258935 1428 51 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCATCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879369 142879370 142879370 upstr_intron -4 -0.05555556 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCATCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 1145 95 1 0.9983316 0.9991658 NA NA 0.9716947 0.9981466 NA NA 0.02830533 0.0001849879 NA 0.9849206 NA 0.01424516 NA FALSE NA 0.114 0.036 . splice_region_variant&intron_variant LOW ARHGAP26 HGNC 17073 ENST00000378013 3/5 1 NA ACC C,T 1.647e-05 5:142879370 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 splice_region_variant 1.167683 0.85007 0.03914 0.053691 0.5659959 0.220682 0.9988598 TRUE 2.43817e-05 ENSE00002397014_008 ENSE00002397014 008 5 142258885 142259054 + 54 72 44 A C 142258943 1431 59 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGCGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879377 142879378 142879378 exon 5 0.06944444 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGCGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 11 62 1 1 1 NA NA 0.9716947 0.9981466 NA NA 0.02830533 0.001853416 NA 0.9849206 NA 0.01507937 NA FALSE NA 1 5.542 . missense_variant MODERATE ARHGAP26 HGNC 17073 ENST00000378013 4/6 1 tolerated(0.13) benign(0.311) NA GAG A,C 1.647e-05 5:142879378 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 missense_variant 2.764077 0.98744 0.95062 0.706298 0.987962 0 0.9988598 TRUE 1.21905e-05 ENSE00002397014_013 ENSE00002397014 013 5 142258885 142259054 + 54 72 44 C A 142258967 1436 83 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCAATCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879401 142879402 142879402 exon 29 0.4027778 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCAATCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 272 72 1 0.9892816 0.9946408 NA NA 0.9716947 0.9981466 NA NA 0.02830533 -0.008864935 NA 0.9849206 NA 0.009720199 NA FALSE NA 0.996 2.993 . missense_variant MODERATE ARHGAP26 HGNC 17073 ENST00000378013 4/6 1 tolerated(0.12) benign(0.23) NA ACT C,A 8.236e-06 5:142879402 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 missense_variant 2.733418 0.98028 0.82287 0.615465 0.9888283 0 0.9988598 TRUE 8.13134e-06 ENSE00002397014_014 ENSE00002397014 014 5 142258885 142259054 + 54 72 44 C T 142258971 1437 87 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCTTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879405 142879406 142879406 exon 33 0.4583333 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCTTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 237 117 0.8688658 1 0.9344329 NA NA 0.9716947 0.9981466 NA NA -0.1028289 0.001853416 NA 0.9849206 NA -0.05048775 NA FALSE NA 0.005 -1.365 . synonymous_variant LOW ARHGAP26 HGNC 17073 ENST00000378013 4/6 rs530958843 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCT C,T 8.236e-06 5:142879406 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 synonymous_variant 1.908524 0.96716 0.09985 0.615465 0.6067178 0 0.9988598 TRUE 4.06666e-06 ENSE00002397014_015 ENSE00002397014 015 5 142258885 142259054 + 54 72 44 A G 142258979 1438 95 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAGGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879413 142879414 142879414 exon -32 0.5694444 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAGGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 112 111 1 1 1 NA NA 0.9716947 0.9981466 NA NA 0.02830533 0.001853416 NA 0.9849206 NA 0.01507937 NA FALSE NA 1 4.62 . missense_variant MODERATE ARHGAP26 HGNC 17073 ENST00000378013 4/6 rs368528114 1 tolerated(0.3) benign(0.02) NA G:0.0002 G:0 AAG A,G 8.236e-06 5:142879414 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 missense_variant 2.465163 0.98588 0.86538 0.615465 0.9967232 0 0.9988598 TRUE 4.06822e-06 ENSE00002397014_016 ENSE00002397014 016 5 142258885 142259054 + 54 72 44 A G 142258992 1439 108 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAGCAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879426 142879427 142879427 exon -19 0.75 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAGCAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 46 227 1 1 1 NA NA 0.9716947 0.9981466 NA NA 0.02830533 0.001853416 NA 0.9849206 NA 0.01507937 NA FALSE NA 1 2.997 . synonymous_variant LOW ARHGAP26 HGNC 17073 ENST00000378013 4/6 1 NA AAC A,G 1.647e-05 5:142879427 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 synonymous_variant 0.420769 0.95594 0.08819 0.615465 0.5101499 0 0.9988598 TRUE 3.25656e-05 ENSE00002397014_020 ENSE00002397014 020 5 142258885 142259054 + 54 72 44 G A 142258999 1443 115 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCAGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879433 142879434 142879434 exon -12 0.8472222 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCAGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 14 174 1 1 1 NA NA 0.9716947 0.9981466 NA NA 0.02830533 0.001853416 NA 0.9849206 NA 0.01507937 NA FALSE NA 1 6.952 . missense_variant MODERATE ARHGAP26 HGNC 17073 ENST00000378013 4/6 1 deleterious(0) probably_damaging(0.927) NA CGG G,A 8.236e-06 5:142879434 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 missense_variant 6.995234 0.98825 0.93908 0.706298 0.999176 0 0.9988598 TRUE 8.21612e-06 ENSE00002397014_021 ENSE00002397014 021 5 142258885 142259054 + 54 72 44 G A 142259002 1444 118 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGACTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879436 142879437 142879437 exon -9 0.8888889 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGACTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 2202 26 0.9975227 1 0.9987614 NA NA 0.9716947 0.9981466 NA NA 0.02582807 0.001853416 NA 0.9849206 NA 0.01384074 NA FALSE NA 1 7.047 . missense_variant MODERATE ARHGAP26 HGNC 17073 ENST00000378013 4/6 1 tolerated(0.11) possibly_damaging(0.828) NA GGC G,A 3.295e-05 5:142879437 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 missense_variant 3.800825 0.98941 0.96149 0.615465 0.9987302 0 0.9988598 TRUE 2.4654e-05 ENSE00002397014_022 ENSE00002397014 022 5 142258885 142259054 + 54 72 44 G A 142259005 1445 121 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTACCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879439 142879440 142879440 exon -6 0.9305556 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTACCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 454 74 1 0.9890046 0.9945023 NA NA 0.9716947 0.9981466 NA NA 0.02830533 -0.009142015 NA 0.9849206 NA 0.009581659 NA FALSE NA 1 9 . missense_variant MODERATE ARHGAP26 HGNC 17073 ENST00000378013 4/6 1 tolerated(0.28) probably_damaging(0.998) NA TGC G,A 8.236e-06 5:142879440 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 missense_variant 5.339921 0.99402 0.98614 0.615465 0.9985431 0 0.9988598 TRUE NA ENSE00002397014_024 ENSE00002397014 024 5 142258885 142259054 + 54 72 44 G T 142259015 1447 131 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGATAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879449 142879450 142879450 downstr_intron 5 1.116279 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGATAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 287 11 1 1 1 NA NA 0.9716947 0.9981466 NA NA 0.02830533 0.001853416 NA 0.9849206 NA 0.01507937 NA FALSE NA 1 3.552 . splice_region_variant&intron_variant LOW ARHGAP26 HGNC 17073 ENST00000378013 4/5 rs370969753 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0011 T:0 AGA G,T 0.0001071 5:142879450 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 splice_region_variant 1.89245 0.97958 0.68078 0.053691 0.9212678 0.432706 0.9988598 TRUE 0.000132681 ENSE00002397014_025 ENSE00002397014 025 5 142258885 142259054 + 54 72 44 G A 142259026 1448 142 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAACTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 142879460 142879461 142879461 downstr_intron 16 1.372093 TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAACTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT mutant NA NA NA NA NA 50 365 1 1 1 NA NA 0.9716947 0.9981466 NA NA 0.02830533 0.001853416 NA 0.9849206 NA 0.01507937 NA FALSE NA 0 -0.938 . intron_variant MODIFIER ARHGAP26 HGNC 17073 ENST00000378013 4/5 1 NA AGC G,A 8.236e-06 5:142879461 ARHGAP26 HGNC Symbol protein_coding 458634 ENSG00000145819 ENSE00003660609 intron_variant 0.121049 0.1536 0.01166 0.053691 0.4889924 0.0573677 0.9988598 TRUE 8.32868e-06 ENSE00002397014_BRK ENSE00002397014 BRK 5 142258885 142259054 + 54 72 44 A,G; T,T NA NA NA TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCTTATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGCCGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT 142879319 142879489 NA NA NA NA NA NA TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCTTATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGCCGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT TTTACTGATACTGCTTTTGTGTCTTCTTTCCCTTACTCTGTTGTTCTTCACCAGATTGAGAATGCCAGCGAGGTGCTCATCACTCCCTTGGAGAAGTTTCGAAAGGAACAGATCGGGGCTGCCAAGGTGAGAATTTTGCAAGCTTTGGTCTGGATTTTAGGGTGAGAGGT control 26 31 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9716947 0.9981466 NA NA NA NA NA 0.9849206 NA NA NA NA NA NA NA NA NA NA ARHGAP26 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGAP26 NA NA NA ENSG00000145819 ENSE00003660609 NA NA NA NA NA NA NA 0.9988598 TRUE NA ENSE00002397414_000 ENSE00002397414 000 2 80772063 80772232 + 44 93 33 NA NA NA NA NA CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 NA NA NA NA NA NA CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT natural 75 61 0.9950584 0.9874195 0.991239 2496 1876 0.874087 0.9942332 0.9341601 0.9950584 0.9874195 0.874087 0.9942332 0 0 0 0 0.991239 0.9341601 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNNA2 NA NA NA ENSG00000066032 ENSE00003517068 NA NA NA NA NA NA NA 0.999718 TRUE NA ENSE00002397414_001 ENSE00002397414 001 2 80772063 80772232 + 44 93 33 C T 80772075 1904 13 CCTTTGCCCCAATCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80544949 80544950 80544950 upstr_intron -32 -0.7045455 CCTTTGCCCCAATCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 39 18 0.9842251 1 0.9921125 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.1101381 0.005766803 0.991239 0.9341601 NA 0.05795244 NA FALSE NA 0.012 -0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:80544950 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 intron_variant 0.043342 0.13805 0.02901 0.085619 0.392758 0.0448725 0.999718 TRUE 0.000349142 ENSE00002397414_002 ENSE00002397414 002 2 80772063 80772232 + 44 93 33 C A 80772075 1905 13 CCTTTGCCCCAAACTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80544949 80544950 80544950 upstr_intron -32 -0.7045455 CCTTTGCCCCAAACTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 53 17 1 1 1 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.125913 0.005766803 0.991239 0.9341601 NA 0.0658399 NA FALSE NA 0.012 -0.002 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNNA2 NA NA NA ENSG00000066032 ENSE00003517068 intron_variant 0.183777 0.20076 0.15929 0.085619 0.4094674 0.0448725 0.999718 TRUE 4.15645e-06 ENSE00002397414_004 ENSE00002397414 004 2 80772063 80772232 + 44 93 33 C A 80772093 1907 31 CCTTTGCCCCAACCTAATATTCACTAAAATACTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80544967 80544968 80544968 upstr_intron -14 -0.2954545 CCTTTGCCCCAACCTAATATTCACTAAAATACTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 626 1114 1 0.9999658 0.9999829 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.125913 0.005732633 0.991239 0.9341601 NA 0.06582281 NA FALSE NA 0 -0.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:80544968 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 intron_variant 0.530794 0.16506 0.08011 0 0.6088514 0.0448725 0.999718 TRUE 8.17534e-06 ENSE00002397414_005 ENSE00002397414 005 2 80772063 80772232 + 44 93 33 T C 80772095 1908 33 CCTTTGCCCCAACCTAATATTCACTAAAATCCCCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80544969 80544970 80544970 upstr_intron -12 -0.25 CCTTTGCCCCAACCTAATATTCACTAAAATCCCCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 28 517 1 0.9964635 0.9982318 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.125913 0.002230312 0.991239 0.9341601 NA 0.06407165 NA FALSE NA 0.997 2.966 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:80544970 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 intron_variant 1.178134 0.48656 0.35569 0 0.8238148 0.18825 0.999718 TRUE 0.000212332 ENSE00002397414_006 ENSE00002397414 006 2 80772063 80772232 + 44 93 33 T A 80772095 1909 33 CCTTTGCCCCAACCTAATATTCACTAAAATCCACTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80544969 80544970 80544970 upstr_intron -12 -0.25 CCTTTGCCCCAACCTAATATTCACTAAAATCCACTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 1075 253 0.9951723 0.9814265 0.9882994 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.1210853 -0.01280672 0.991239 0.9341601 NA 0.05413931 NA FALSE NA 0.997 2.966 NA NA NA CTNNA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNNA2 NA NA NA ENSG00000066032 ENSE00003517068 intron_variant 1.490397 0.53118 0.87963 0 0.849915 0.18825 0.999718 TRUE 4.0833e-06 ENSE00002397414_007 ENSE00002397414 007 2 80772063 80772232 + 44 93 33 C T 80772096 1910 34 CCTTTGCCCCAACCTAATATTCACTAAAATCCTTTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80544970 80544971 80544971 upstr_intron -11 -0.2272727 CCTTTGCCCCAACCTAATATTCACTAAAATCCTTTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 475 99 0.9419439 0.9983991 0.9701715 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.0678569 0.004165929 0.991239 0.9341601 NA 0.03601141 NA FALSE NA 0.998 1.496 . intron_variant MODIFIER CTNNA2 HGNC 2510 ENST00000496558 9/17 1 NA TCT C,T 8.273e-06 2:80544971 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 intron_variant 1.456764 0.57221 0.24433 0 0.7574051 0.190912 0.999718 TRUE 4.07737e-06 ENSE00002397414_011 ENSE00002397414 011 2 80772063 80772232 + 44 93 33 C T 80772161 1914 99 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTTGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80545035 80545036 80545036 exon -39 0.5913978 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTTGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 147 225 1 0.9985916 0.9992958 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.125913 0.004358391 0.991239 0.9341601 NA 0.06513569 NA FALSE NA 1 4.663 . missense_variant MODERATE CTNNA2 HGNC 2510 ENST00000496558 10/18 COSM1409702 1 deleterious(0) possibly_damaging(0.886) NA TCG C,T 8.27e-06 2:80545036 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 missense_variant 7.660864 0.98959 0.97223 0.706298 0.9988331 0 0.999718 TRUE 4.06375e-06 ENSE00002397414_012 ENSE00002397414 012 2 80772063 80772232 + 44 93 33 G A 80772162 1915 100 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCAGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80545036 80545037 80545037 exon -38 0.6021505 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCAGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 495 796 0.9914997 0.9994242 0.9954619 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.1174127 0.005191011 0.991239 0.9341601 NA 0.06130184 NA FALSE NA 1 9.477 . missense_variant MODERATE CTNNA2 HGNC 2510 ENST00000496558 10/18 1 tolerated(0.31) benign(0.046) NA CGG G,A 8.27e-06 2:80545037 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 missense_variant 4.300346 0.99631 0.99427 0.706298 0.9965068 0 0.999718 TRUE 8.12764e-06 ENSE00002397414_013 ENSE00002397414 013 2 80772063 80772232 + 44 93 33 C T 80772174 1916 112 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCATCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80545048 80545049 80545049 exon -26 0.7311828 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCATCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 30 399 1 1 1 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.125913 0.005766803 0.991239 0.9341601 NA 0.0658399 NA FALSE NA 0.999 5.77 . missense_variant MODERATE CTNNA2 HGNC 2510 ENST00000496558 10/18 rs372299559 1 tolerated(0.18) benign(0.049) NA T:0 T:0.0001 ACC C,T 8.268e-06 2:80545049 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 missense_variant 3.664798 0.99524 0.98372 0.706298 0.9925577 0 0.999718 TRUE 4.06336e-06 ENSE00002397414_015 ENSE00002397414 015 2 80772063 80772232 + 44 93 33 C T 80772187 1918 125 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGTCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80545061 80545062 80545062 exon -13 0.8709677 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGTCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 368 77 0.9970721 0.9995042 0.9982882 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.1229851 0.005271023 0.991239 0.9341601 NA 0.06412808 NA FALSE NA 1 0.797 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:80545062 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 synonymous_variant 2.127905 0.97265 0.71353 0.615465 0.6659013 0 0.999718 TRUE 2.03237e-05 ENSE00002397414_016 ENSE00002397414 016 2 80772063 80772232 + 44 93 33 C G 80772187 1919 125 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGGCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80545061 80545062 80545062 exon -13 0.8709677 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGGCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 111 268 0.9828846 0.9971084 0.9899965 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.1087976 0.002875209 0.991239 0.9341601 NA 0.05583641 NA FALSE NA 1 0.797 NA NA NA CTNNA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNNA2 NA NA NA ENSG00000066032 ENSE00003517068 missense_variant 2.478452 0.97895 0.92758 0.615465 0.9484362 0 0.999718 TRUE 4.06474e-06 ENSE00002397414_018 ENSE00002397414 018 2 80772063 80772232 + 44 93 33 C G 80772196 1921 134 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCGCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT 80544937 80545107 80545070 80545071 80545071 exon -4 0.9677419 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCGCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 239 208 0.9847082 1 0.9923541 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.1106212 0.005766803 0.991239 0.9341601 NA 0.05819401 NA FALSE NA 0.004 -1.742 . synonymous_variant LOW CTNNA2 HGNC 2510 ENST00000496558 10/18 1 NA CCC C,G 8.268e-06 2:80545071 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 synonymous_variant 1.632078 0.95099 0.49743 0.615465 0.722904 0 0.999718 TRUE 4.06759e-06 ENSE00002397414_020 ENSE00002397414 020 2 80772063 80772232 + 44 93 33 A G 80772213 1923 151 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCGCTTTGTTTCAAAAGCCTGT 80544937 80545107 80545087 80545088 80545088 downstr_intron 14 1.4375 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCGCTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 745 656 0.8289246 1 0.9144623 0.9950584 0.9874195 0.874087 0.9942332 NA NA -0.04516236 0.005766803 0.991239 0.9341601 NA -0.01969778 NA FALSE NA 0 0.09 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:80545088 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 intron_variant 1.213684 0.19268 0.07485 0.065574 0.7182232 0.127363 0.999718 TRUE 0 ENSE00002397414_021 ENSE00002397414 021 2 80772063 80772232 + 44 93 33 A T 80772213 1924 151 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCTCTTTGTTTCAAAAGCCTGT 80544937 80545107 80545087 80545088 80545088 downstr_intron 14 1.4375 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCTCTTTGTTTCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 90 82 1 1 1 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.125913 0.005766803 0.991239 0.9341601 NA 0.0658399 NA FALSE NA 0 0.09 NA NA NA CTNNA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CTNNA2 NA NA NA ENSG00000066032 ENSE00003517068 intron_variant 1.130083 0.2001 0.0757 0.065574 0.787496 0.127363 0.999718 TRUE 4.09698e-06 ENSE00002397414_022 ENSE00002397414 022 2 80772063 80772232 + 44 93 33 T C 80772221 1925 159 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTCCAAAAGCCTGT 80544937 80545107 80545095 80545096 80545096 downstr_intron 22 1.6875 CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTCCAAAAGCCTGT CCTTTGCCCCAACCTAATATTCACTAAAATCCTCTTCAATACAGGTTGCCAATTTGGCCTGTTCCATCTCCAACAATGAAGAAGGGGTGAAATTAGTTCGGATGGCAGCCACCCAGATTGACAGCCTGTGTCCCCAGGTAAGCCTCATTCACTTTGTTTCAAAAGCCTGT mutant NA NA NA NA NA 77 69 1 1 1 0.9950584 0.9874195 0.874087 0.9942332 NA NA 0.125913 0.005766803 0.991239 0.9341601 NA 0.0658399 NA FALSE NA 0.002 1.222 . intron_variant MODIFIER CTNNA2 HGNC 2510 ENST00000496558 10/17 1 NA TTC T,C 8.268e-06 2:80545096 CTNNA2 HGNC Symbol protein_coding 1463630 ENSG00000066032 ENSE00003517068 intron_variant 0.592514 0.17411 0.13842 0.065574 0.8356664 0.127363 0.999718 TRUE NA ENSE00002397687_000 ENSE00002397687 000 2 191850286 191850455 - 59 42 69 NA NA NA NA NA GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 NA NA NA NA NA NA ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC natural 155 156 0.8175032 0.8428909 0.8301971 3284 2959 0.8035692 0.8714406 0.8375049 0.8175032 0.8428909 0.8035692 0.8714406 0 0 0 0 0.8301971 0.8375049 0 0 0 FALSE FALSE NA NA NA NA NA STAT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT1 NA NA NA ENSG00000115415 ENSE00003631710 NA NA NA NA NA NA NA 0.9999943 TRUE NA ENSE00002397687_001 ENSE00002397687 001 2 191850286 191850455 - 59 42 69 G C 191850296 3928 160 GTCCTTGCTACACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985569 190985570 190985570 downstr_intron 49 1.844828 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTGTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 186 446 0.940951 0.9461228 0.9435369 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.1373818 0.07468214 0.8301971 0.8375049 NA 0.106032 NA FALSE NA 0.001 0.858 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/22 1 NA AGA G,C 2.471e-05 2:190985570 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 intron_variant -0.088295 0.26929 0.38296 0.256867 0.3930165 0.0512016 0.9999943 TRUE 1.21941e-05 ENSE00002397687_002 ENSE00002397687 002 2 191850286 191850455 - 59 42 69 A T 191850297 3929 159 GTCCTTGCTAGTCAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985570 190985571 190985571 downstr_intron 48 1.827586 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGACTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 747 1012 0.9534907 0.9372681 0.9453794 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.1499215 0.06582747 0.8301971 0.8375049 NA 0.1078745 NA FALSE NA 0 0.025 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/22 1 NA GAC A,T 8.236e-06 2:190985571 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 intron_variant 0.160114 0.30392 0.33364 0.256867 0.5878311 0.0512016 0.9999943 TRUE 4.06408e-06 ENSE00002397687_003 ENSE00002397687 003 2 191850286 191850455 - 59 42 69 C A 191850306 3930 150 GTCCTTGCTAGACAGACCTGACTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985579 190985580 190985580 downstr_intron 39 1.672414 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGTCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 628 346 0.9419709 0.960717 0.951344 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.1384017 0.08927641 0.8301971 0.8375049 NA 0.1138391 NA FALSE NA 0.004 0.555 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/22 1 NA GCC C,A 8.236e-06 2:190985580 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 intron_variant 0.435226 0.31001 0.19088 0.256867 0.5778199 0.0512016 0.9999943 TRUE 8.12519e-06 ENSE00002397687_004 ENSE00002397687 004 2 191850286 191850455 - 59 42 69 T C 191850312 3931 144 GTCCTTGCTAGACAGACCTGCCTGATCTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985585 190985586 190985586 downstr_intron 33 1.568966 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAGATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 550 639 0.891621 0.8305167 0.8610688 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.08805177 -0.04092391 0.8301971 0.8375049 NA 0.02356393 NA FALSE NA 0.001 0.195 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/22 rs373535280 1 NA C:0 C:0.0001 TTT T,C 8.236e-06 2:190985586 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 intron_variant 0.124746 0.24424 0.20688 0.256867 0.5269975 0.0512016 0.9999943 TRUE 4.06171e-06 ENSE00002397687_005 ENSE00002397687 005 2 191850286 191850455 - 59 42 69 C A 191850325 3932 131 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCAAAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985598 190985599 190985599 downstr_intron 20 1.344828 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTTTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 220 2067 0.9608852 0.9436704 0.9522778 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.157316 0.07222978 0.8301971 0.8375049 NA 0.1147729 NA FALSE NA 0 -2.065 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/22 rs573738354 1 NA ACA C,A 8.236e-06 2:190985599 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 intron_variant 0.170732 0.29821 0.18994 0.256867 0.3121369 0.0727519 0.9999943 TRUE 1.62452e-05 ENSE00002397687_006 ENSE00002397687 006 2 191850286 191850455 - 59 42 69 A G 191850337 3933 119 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGGCTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985610 190985611 190985611 downstr_intron 8 1.137931 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGCCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 171 376 0.8084478 0.8260502 0.817249 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.004878586 -0.04539045 0.8301971 0.8375049 NA -0.02025593 NA FALSE NA 0.952 0.434 . splice_region_variant&intron_variant LOW STAT1 HGNC 11362 ENST00000540176 13/22 1 NA GAC A,G 1.647e-05 2:190985611 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 splice_region_variant 0.046459 0.30905 0.47537 0.256867 0.4345498 0.0737381 0.9999943 TRUE 1.21829e-05 ENSE00002397687_007 ENSE00002397687 007 2 191850286 191850455 - 59 42 69 C T 191850338 3934 118 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGATTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985611 190985612 190985612 downstr_intron 7 1.12069 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAATCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 548 2571 0.9902996 0.9646439 0.9774718 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.1867304 0.09320332 0.8301971 0.8375049 NA 0.1399668 NA FALSE NA 0.978 0.892 rs56228116 splice_region_variant&intron_variant LOW STAT1 HGNC 11362 ENST00000540176 13/22 rs56228116 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0012 ACT C,T 0.0003871 2:190985612 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 splice_region_variant 0.536618 0.30264 0.30644 0.256867 0.2326601 0.0737381 0.9999943 TRUE 0.000397979 ENSE00002397687_010 ENSE00002397687 010 2 191850286 191850455 - 59 42 69 G C 191850360 3937 96 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTCCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985633 190985634 190985634 exon -16 0.6428571 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGGACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 465 254 0.9601488 0.9699538 0.9650513 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.1565796 0.09851321 0.8301971 0.8375049 NA 0.1275464 NA FALSE NA 1 0.458 NA NA NA STAT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:190985634 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 synonymous_variant 0.802896 0.9278 0.87398 0.722319 0.7068231 0 0.9999943 TRUE 0.00013403 ENSE00002397687_012 ENSE00002397687 012 2 191850286 191850455 - 59 42 69 T C 191850375 3939 81 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGCTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985648 190985649 190985649 exon 12 0.2857143 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAGCAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 450 781 0.8152889 0.9755753 0.8954321 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.0117197 0.1041347 0.8301971 0.8375049 NA 0.05792718 NA FALSE NA 1 0.796 . 3_prime_UTR_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/23 rs201555918 1 C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 GTT T,C 5.765e-05 2:190985649 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 synonymous_variant -0.167343 0.9285 0.86218 0.722319 0.4678768 0 0.9999943 TRUE 6.0932e-05 ENSE00002397687_013 ENSE00002397687 013 2 191850286 191850455 - 59 42 69 A G 191850383 3940 73 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAGTTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985656 190985657 190985657 exon 4 0.0952381 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAACTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 31 178 1 0.9491247 0.9745623 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.1964308 0.07768408 0.8301971 0.8375049 NA 0.1370574 NA FALSE NA 1 1.728 . 3_prime_UTR_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 13/23 1 NA AAT A,G 8.236e-06 2:190985657 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 synonymous_variant 0.721379 0.90754 0.22167 0.722319 0.6484382 0 0.9999943 TRUE 8.12698e-06 ENSE00002397687_014 ENSE00002397687 014 2 191850286 191850455 - 59 42 69 T C 191850384 3941 72 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAACTGCTATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985657 190985658 190985658 exon 3 0.07142857 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAGTTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 154 648 0.7862862 0.8015603 0.7939232 0.8175032 0.8428909 0.8035692 0.8714406 NA NA -0.01728303 -0.06988032 0.8301971 0.8375049 NA -0.04358167 NA FALSE NA 1 6.569 . splice_region_variant&3_prime_UTR_variant LOW STAT1 HGNC 11362 ENST00000540176 13/23 rs549774353 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATT T,C 8.236e-06 2:190985658 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 splice_region_variant 1.316734 0.97178 0.98418 0.722319 0.8794859 0 0.9999943 TRUE 8.12572e-06 ENSE00002397687_015 ENSE00002397687 015 2 191850286 191850455 - 59 42 69 A G 191850391 3942 65 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATGAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985664 190985665 190985665 upstr_intron -5 -0.05797101 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTCATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 334 155 0 0 0 0.8175032 0.8428909 0.8035692 0.8714406 NA NA -0.8035692 -0.8714406 0.8301971 0.8375049 NA -0.8375049 NA TRUE NA 0.366 1.71 rs191364028 splice_region_variant&intron_variant LOW STAT1 HGNC 11362 ENST00000540176 12/22 rs191364028 1 G:0.0012 G:0 G:0 NA G:0 G:0.006 G:0 G:0.0005 G:0.0015 TAA A,G 0.00196 2:190985665 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 splice_region_variant 0.977178 0.95195 0.78745 0.069865 0.8244568 0.842554 0.9999943 TRUE 0.00184911 ENSE00002397687_017 ENSE00002397687 017 2 191850286 191850455 - 59 42 69 C A 191850395 3944 61 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAAAAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985668 190985669 190985669 upstr_intron -9 -0.115942 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTTTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 1583 1106 0.9324415 0.9739309 0.9531862 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.1288723 0.1024903 0.8301971 0.8375049 NA 0.1156813 NA FALSE NA 0.009 -2.013 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 12/22 rs551727276 1 A:0.0022 A:0 A:0 NA A:0 A:0 A:0.0112 ACA C,A 0.0006342 2:190985669 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 intron_variant 0.786687 0.36502 0.20127 0.069865 0.6324509 0.282015 0.9999943 TRUE 0.000560871 ENSE00002397687_019 ENSE00002397687 019 2 191850286 191850455 - 59 42 69 A C 191850400 3946 56 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATCATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985673 190985674 190985674 upstr_intron -14 -0.1884058 ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATGATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 286 457 0.8007648 0.8546344 0.8276996 0.8175032 0.8428909 0.8035692 0.8714406 NA NA -0.002804407 -0.01680621 0.8301971 0.8375049 NA -0.009805307 NA FALSE NA 0.008 0.587 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 12/22 rs201698540 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 C:0.0002 C:0.0002 TAA A,C 0.0002306 2:190985674 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 intron_variant -0.255144 0.36081 0.42409 0.069865 0.5628338 0.0709945 0.9999943 TRUE 0.000187003 ENSE00002397687_021 ENSE00002397687 021 2 191850286 191850455 - 59 42 69 G A 191850422 3948 34 GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCACCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGCTATAAAACAAATAATCATCTTAGTAAACACCATGATAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 190985695 190985696 190985696 upstr_intron -36 -0.5072464 ATTTGTAAATGAAGATAGCAACTTTGACCATTATCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC mutant NA NA NA NA NA 919 1658 0.9358826 0.9449959 0.9404392 0.8175032 0.8428909 0.8035692 0.8714406 NA NA 0.1323134 0.07355525 0.8301971 0.8375049 NA 0.1029343 NA FALSE NA 0 -1.127 . intron_variant MODIFIER STAT1 HGNC 11362 ENST00000540176 12/22 rs374416495 1 NA A:0.0002 A:0 GGT G,A 2.471e-05 2:190985696 STAT1 HGNC Symbol protein_coding 56602 ENSG00000115415 ENSE00003631710 intron_variant 0.01817 0.20953 0.04866 0.088506 0.5647929 0.0483959 0.9999943 TRUE 2.03709e-05 ENSE00002397687_BRK ENSE00002397687 BRK 2 191850286 191850455 - 59 42 69 A,G; T,T NA NA NA GTCCTTGCTAGACAGACCTGCCTGATTTGGGCCCATTCACAACATAAAGGGACTCTCGGCTCATTCGTTCTGGTGCCAGCATTTTTCTGTTCTTTCAATTGAAATAAAACAAATAATCATCTTAGTAAACACCATGGTAATGGTCAAAGTTGCTATCTTCATTTACAAAT 190985559 190985729 NA NA NA NA NA NA ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATTTCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGCCGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC ATTTGTAAATGAAGATAGCAACTTTGACCATTACCATGGTGTTTACTAAGATGATTATTTGTTTTATAGCAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAATGAGGTGAGAGTCCCTTTATGTTGTGAATGGGCCCAAATCAGGCAGGTCTGTCTAGCAAGGAC control 15 19 0 0 0 NA NA NA NA NA 0.8175032 0.8428909 0.8035692 0.8714406 -0.8175032 -0.8428909 NA NA 0.8301971 0.8375049 -0.8301971 NA NA NA TRUE NA NA NA NA NA STAT1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT1 NA NA NA ENSG00000115415 ENSE00003631710 NA NA NA NA NA NA NA 0.9999943 TRUE NA ENSE00002398088_000 ENSE00002398088 000 2 201764060 201764229 + 48 84 38 NA NA NA NA NA TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 NA NA NA NA NA NA TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG natural 152 55 0.8280611 0.9274521 0.8777566 8372 4834 0.9549806 0.9567929 0.9558868 0.8280611 0.9274521 0.9549806 0.9567929 0 0 0 0 0.8777566 0.9558868 0 0 0 FALSE FALSE NA NA NA NA NA NIF3L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NIF3L1 NA NA NA ENSG00000196290 ENSE00003664983 NA NA NA NA NA NA NA 0.005177005 FALSE NA ENSE00002398088_001 ENSE00002398088 001 2 201764060 201764229 + 48 84 38 T A 201764070 4157 11 TGAAAGGGAAATGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899346 200899347 200899347 upstr_intron -38 -0.7708333 TGAAAGGGAAATGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 473 1638 0.988087 0.9891375 0.9886122 0.8280611 0.9274521 0.9549806 0.9567929 NA NA 0.03310636 0.03234457 0.8777566 0.9558868 NA 0.03272547 NA FALSE NA 0.004 0.489 . intron_variant MODIFIER NIF3L1 HGNC 13390 ENST00000436412 1/2 1 NA ATT T,A 8.271e-06 2:200899347 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 intron_variant 0.61301 0.27879 0.31418 0.156188 0.7438362 0.0870802 0.005177005 FALSE 4.1833e-06 ENSE00002398088_002 ENSE00002398088 002 2 201764060 201764229 + 48 84 38 T A 201764071 4158 12 TGAAAGGGAATAGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899347 200899348 200899348 upstr_intron -37 -0.75 TGAAAGGGAATAGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 1462 1641 0.9751349 0.975868 0.9755015 0.8280611 0.9274521 0.9549806 0.9567929 NA NA 0.02015431 0.01907507 0.8777566 0.9558868 NA 0.01961469 NA FALSE NA 0.006 1.459 . intron_variant MODIFIER NIF3L1 HGNC 13390 ENST00000436412 1/2 1 NA TTG T,A 8.271e-06 2:200899348 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 intron_variant 0.79256 0.2247 0.22159 0.156188 0.643225 0.0870802 0.005177005 FALSE 4.17994e-06 ENSE00002398088_003 ENSE00002398088 003 2 201764060 201764229 + 48 84 38 T C 201764080 4159 21 TGAAAGGGAATTGTAAAGTACTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899356 200899357 200899357 upstr_intron -28 -0.5625 TGAAAGGGAATTGTAAAGTACTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 2065 997 0.9805972 0.9798037 0.9802005 0.8280611 0.9274521 0.9549806 0.9567929 NA NA 0.02561659 0.02301078 0.8777566 0.9558868 NA 0.02431369 NA FALSE NA 0 -0.792 . intron_variant MODIFIER NIF3L1 HGNC 13390 ENST00000436412 1/2 rs373192848 1 NA C:0 C:0.0001 ATT T,C 8.27e-06 2:200899357 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 intron_variant 0.069902 0.14129 0.02715 0.156188 0.5023059 0.0870802 0.005177005 FALSE 4.10428e-06 ENSE00002398088_004 ENSE00002398088 004 2 201764060 201764229 + 48 84 38 T C 201764093 4160 34 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTCCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899369 200899370 200899370 upstr_intron -15 -0.2916667 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTCCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 1195 1979 0.8211943 0.858515 0.8398546 0.8280611 0.9274521 0.9549806 0.9567929 NA NA -0.1337864 -0.09827793 0.8777566 0.9558868 NA -0.1160321 NA FALSE NA 0.004 1.098 . intron_variant MODIFIER NIF3L1 HGNC 13390 ENST00000436412 1/2 rs533759613 1 NA TTC T,C 8.269e-06 2:200899370 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 intron_variant 0.323354 0.30132 0.1881 0.156188 0.6728378 0.134802 0.005177005 FALSE 2.44582e-05 ENSE00002398088_005 ENSE00002398088 005 2 201764060 201764229 + 48 84 38 C T 201764097 4161 38 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTTTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899373 200899374 200899374 upstr_intron -11 -0.2083333 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTTTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 5352 1656 0.8924895 0.9990206 0.9457551 0.8280611 0.9274521 0.9549806 0.9567929 NA NA -0.06249109 0.04222771 0.8777566 0.9558868 NA -0.01013169 NA FALSE NA 0.051 0.003 rs75370944 intron_variant MODIFIER NIF3L1 HGNC 13390 ENST00000436412 1/2 rs75370944 1 T:0.0367 T:0.1339 T:0.0101 NA T:0 T:0 T:0 T:0.1306 T:0 TCT T,T 0.012 2:200899374 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 intron_variant 0.275828 0.12681 0.01517 0.156188 0.5448461 0.137965 0.005177005 FALSE 0.0097414 ENSE00002398088_007 ENSE00002398088 007 2 201764060 201764229 + 48 84 38 A G 201764108 4163 49 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGGGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899384 200899385 200899385 exon 1 0.01190476 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGGGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 1070 1172 0.9989569 0.9986862 0.9988216 0.8280611 0.9274521 0.9549806 0.9567929 NA NA 0.04397627 0.0418933 0.8777566 0.9558868 NA 0.04293479 NA FALSE NA 1 6.472 . missense_variant&splice_region_variant MODERATE NIF3L1 HGNC 13390 ENST00000436412 2/3 1 deleterious(0.05) benign(0.046) NA GAG A,G 8.266e-06 2:200899385 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 missense_variant 3.168629 0.98713 0.9845 0.706548 0.9908797 0 0.005177005 FALSE 8.12935e-06 ENSE00002398088_008 ENSE00002398088 008 2 201764060 201764229 + 48 84 38 C T 201764124 4164 65 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTTGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899400 200899401 200899401 exon 17 0.202381 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTTGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 1127 1965 0.8030247 0.857263 0.8301438 0.8280611 0.9274521 0.9549806 0.9567929 NA NA -0.1519559 -0.09952992 0.8777566 0.9558868 NA -0.1257429 NA FALSE NA 0 -3.291 . synonymous_variant LOW NIF3L1 HGNC 13390 ENST00000436412 2/3 rs564959592&COSM1482623&COSM1482622 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCG C,T 1.653e-05 2:200899401 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 missense_variant 1.70804 0.09703 0.0207 0.706548 0.8237819 0 0.005177005 FALSE 8.12665e-06 ENSE00002398088_009 ENSE00002398088 009 2 201764060 201764229 + 48 84 38 G A 201764125 4165 66 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCATGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899401 200899402 200899402 exon 18 0.2142857 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCATGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 1417 1644 0.8400652 0.8074581 0.8237616 0.8280611 0.9274521 0.9549806 0.9567929 NA NA -0.1149155 -0.1493349 0.8777566 0.9558868 NA -0.1321252 NA FALSE NA 1 7.326 . missense_variant MODERATE NIF3L1 HGNC 13390 ENST00000436412 2/3 rs200375308 1 deleterious(0) probably_damaging(0.96) NA CGT G,A 5.785e-05 2:200899402 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 missense_variant 6.64392 0.9946 0.99025 0.706548 0.9985039 0 0.005177005 FALSE 4.87543e-05 ENSE00002398088_010 ENSE00002398088 010 2 201764060 201764229 + 48 84 38 C T 201764154 4166 95 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGTGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899430 200899431 200899431 exon -38 0.5595238 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGTGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 1081 2291 0.7661402 0.8072397 0.7866899 0.8280611 0.9274521 0.9549806 0.9567929 NA NA -0.1888405 -0.1495532 0.8777566 0.9558868 NA -0.1691968 NA FALSE NA 0.002 -1.586 . synonymous_variant LOW NIF3L1 HGNC 13390 ENST00000436412 2/3 1 NA GCG C,T 1.653e-05 2:200899431 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 missense_variant 2.477337 0.3776 0.03929 0.706548 0.9093427 0 0.005177005 FALSE 8.12447e-06 ENSE00002398088_011 ENSE00002398088 011 2 201764060 201764229 + 48 84 38 G A 201764155 4167 96 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCATTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899431 200899432 200899432 exon -37 0.5714286 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCATTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 2514 925 0.765109 0.8242508 0.7946799 0.8280611 0.9274521 0.9549806 0.9567929 NA NA -0.1898716 -0.1325422 0.8777566 0.9558868 NA -0.1612069 NA FALSE NA 0.998 2.556 . missense_variant MODERATE NIF3L1 HGNC 13390 ENST00000436412 2/3 1 tolerated(0.15) benign(0.083) NA CGT G,A 8.264e-06 2:200899432 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 missense_variant 2.132749 0.98155 0.95352 0.706548 0.9559914 0 0.005177005 FALSE 4.06227e-06 ENSE00002398088_013 ENSE00002398088 013 2 201764060 201764229 + 48 84 38 G C 201764163 4169 104 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCACGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899439 200899440 200899440 exon -29 0.6666667 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCACGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 1830 1158 0.9322496 0.9996047 0.9659271 0.8280611 0.9274521 0.9549806 0.9567929 NA NA -0.02273107 0.04281174 0.8777566 0.9558868 NA 0.01004033 NA FALSE NA 1 0.931 . missense_variant MODERATE NIF3L1 HGNC 13390 ENST00000436412 2/3 1 deleterious(0.03) possibly_damaging(0.652) NA AGG G,C 1.653e-05 2:200899440 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 missense_variant 4.153408 0.37754 0.77307 0.706548 0.9937379 0 0.005177005 FALSE 1.21882e-05 ENSE00002398088_014 ENSE00002398088 014 2 201764060 201764229 + 48 84 38 G C 201764165 4170 106 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGCTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899441 200899442 200899442 exon -27 0.6904762 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGCTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 2582 1865 0.9983312 0.9997721 0.9990517 0.8280611 0.9274521 0.9549806 0.9567929 NA NA 0.04335059 0.04297922 0.8777566 0.9558868 NA 0.04316491 NA FALSE NA 1 6.131 . missense_variant MODERATE NIF3L1 HGNC 13390 ENST00000436412 2/3 1 deleterious(0.01) probably_damaging(0.968) NA GGT G,C 9.918e-05 2:200899442 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 missense_variant 4.810983 0.98774 0.98801 0.706548 0.9965997 0 0.005177005 FALSE 6.50042e-05 ENSE00002398088_015 ENSE00002398088 015 2 201764060 201764229 + 48 84 38 G A 201764172 4171 113 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAAGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899448 200899449 200899449 exon -20 0.7738095 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAAGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 200 880 1 0.9999567 0.9999784 0.8280611 0.9274521 0.9549806 0.9567929 NA NA 0.04501938 0.04316383 0.8777566 0.9558868 NA 0.0440916 NA FALSE NA 0.967 0.638 rs190698962 synonymous_variant LOW NIF3L1 HGNC 13390 ENST00000436412 2/3 rs190698962 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 AGG G,A 0.000124 2:200899449 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 missense_variant 0.830022 0.2569 0.53259 0.706548 0.9543477 0 0.005177005 FALSE 9.34625e-05 ENSE00002398088_016 ENSE00002398088 016 2 201764060 201764229 + 48 84 38 T C 201764203 4172 144 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACCTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899479 200899480 200899480 downstr_intron 12 1.324324 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACCTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 1530 1126 0.7992223 0.8011218 0.8001721 0.8280611 0.9274521 0.9549806 0.9567929 NA NA -0.1557583 -0.1556711 0.8777566 0.9558868 NA -0.1557147 NA FALSE NA 0.006 0.566 . intron_variant MODIFIER NIF3L1 HGNC 13390 ENST00000436412 2/2 1 NA CTT T,C 8.273e-06 2:200899480 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 intron_variant 0.346869 0.25519 0.05989 0.099367 0.5996821 0.104039 0.005177005 FALSE 4.07292e-06 ENSE00002398088_017 ENSE00002398088 017 2 201764060 201764229 + 48 84 38 G C 201764206 4173 147 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTCGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 200899482 200899483 200899483 downstr_intron 15 1.405405 TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTCGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG mutant NA NA NA NA NA 263 2453 0.9887394 0.9943935 0.9915665 0.8280611 0.9274521 0.9549806 0.9567929 NA NA 0.03375878 0.03760064 0.8777566 0.9558868 NA 0.03567971 NA FALSE NA 0 -1.221 . intron_variant MODIFIER NIF3L1 HGNC 13390 ENST00000436412 2/2 1 NA TGG G,C 2.482e-05 2:200899483 NIF3L1 HGNC Symbol protein_coding 14603 ENSG00000196290 ENSE00003664983 intron_variant -0.30269 0.23656 0.02659 0.099367 0.5889903 0.046323 0.005177005 FALSE 2.85158e-05 ENSE00002398088_BRK ENSE00002398088 BRK 2 201764060 201764229 + 48 84 38 A,G; T,T NA NA NA TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGATTAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGCCAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG 200899336 200899506 NA NA NA NA NA NA TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGATTAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGCCAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG TGAAAGGGAATTGTAAAGTATTGGTCTCTTGTTTCCTCTGTTTTGAAGAGTCTCAAGTCAAAGTCGTGGCCCTGTGTGCTGGTTCTGGGAGCAGCGTTCTGCAGGGTGTTGAGGCTGACCTTTACCTCACAGGTAGGACAGACTTTGGATCTCTCTTGGTTTATTTTTTG control 58 82 0 0.08163257 0.04081629 246 895 0.01122479 0.1124936 0.06185917 0.8280611 0.9274521 0.9549806 0.9567929 -0.8280611 -0.8458196 -0.9437558 -0.8442994 0.8777566 0.9558868 -0.8369403 -0.8940276 0.05708726 TRUE TRUE NA NA NA NA NA NIF3L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NIF3L1 NA NA NA ENSG00000196290 ENSE00003664983 NA NA NA NA NA NA NA 0.005177005 FALSE NA ENSE00002398372_000 ENSE00002398372 000 11 60668912 60669081 - 59 42 69 NA NA NA NA NA TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 NA NA NA NA NA NA TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC natural 22 84 0.9473798 0.8888962 0.918138 843 1285 0.9801815 0.9426512 0.9614163 0.9473798 0.8888962 0.9801815 0.9426512 0 0 0 0 0.918138 0.9614163 0 0 0 FALSE FALSE NA NA NA NA NA PRPF19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRPF19 NA NA NA ENSG00000110107 ENSE00003788733 NA NA NA NA NA NA NA 0.9985667 TRUE NA ENSE00002398372_003 ENSE00002398372 003 11 60668912 60669081 - 59 42 69 C G 60668935 1391 147 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGCCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 60901462 60901463 60901463 downstr_intron 36 1.62069 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGCCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC mutant NA NA NA NA NA 17 436 1 0.999034 0.999517 0.9473798 0.8888962 0.9801815 0.9426512 NA NA 0.01981851 0.05638284 0.918138 0.9614163 NA 0.03810067 NA FALSE NA 0 0.041 . downstream_gene_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 1 NA GCC C,G 8.236e-06 11:60901463 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00003788733 intron_variant 0.494623 0.47298 0.2876 0.359288 0.7330212 0.577762 0.9985667 TRUE 4.06451e-06 ENSE00002398372_006 ENSE00002398372 006 11 60668912 60669081 - 59 42 69 G A 60668950 1394 132 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCTTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 60901477 60901478 60901478 downstr_intron 21 1.362069 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCTTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC mutant 35 30 0.85 0.85 0.85 NA NA NA NA NA 0.9473798 0.8888962 0.9801815 0.9426512 -0.09737979 -0.03889621 NA NA 0.918138 0.9614163 -0.068138 NA NA NA FALSE 0 -0.168 rs72916983 downstream_gene_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 rs72916983 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0012 AGG G,A 0.0002883 11:60901478 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00003788733 intron_variant 0.426735 0.27877 0.11139 0.359288 0.4316849 0.0915402 0.9985667 TRUE 0.000345324 ENSE00002398372_007 ENSE00002398372 007 11 60668912 60669081 - 59 42 69 C T 60668983 1395 99 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACAGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 60901510 60901511 60901511 exon -13 0.7142857 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACAGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC mutant 43 57 0.85 0.85 0.85 NA NA NA NA NA 0.9473798 0.8888962 0.9801815 0.9426512 -0.09737979 -0.03889621 NA NA 0.918138 0.9614163 -0.068138 NA NA NA FALSE 0.126 -0.684 . synonymous_variant LOW PRPF19 HGNC 17896 ENST00000546152 8/8 1 NA CCG C,T 8.236e-06 11:60901511 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00003788733 synonymous_variant 2.575946 0.90263 0.28295 0.719381 0.7151765 0 0.9985667 TRUE 4.06283e-06 ENSE00002398372_010 ENSE00002398372 010 11 60668912 60669081 - 59 42 69 G C 60669021 1398 61 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTGTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 60901548 60901549 60901549 upstr_intron -9 -0.115942 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTGTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC mutant NA NA NA NA NA 84 286 0.8 0.8 0.8 0.9473798 0.8888962 0.9801815 0.9426512 NA NA -0.1801815 -0.1426512 0.918138 0.9614163 NA -0.1614163 NA FALSE NA 0.004 0.987 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 7/7 rs369053079 1 NA C:0.0002 C:0.0001 AGA G,C 0.0002553 11:60901549 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00003788733 intron_variant 0.420765 0.38154 0.52654 0.099367 0.6352119 0.0765055 0.9985667 TRUE 0.000223874 ENSE00002398372_013 ENSE00002398372 013 11 60668912 60669081 - 59 42 69 A T 60669046 1401 36 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGAAGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 60901573 60901574 60901574 upstr_intron -34 -0.4782609 TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGAAGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC mutant NA NA NA NA NA 289 106 0.8070092 1 0.9035046 0.9473798 0.8888962 0.9801815 0.9426512 NA NA -0.1731723 0.0573488 0.918138 0.9614163 NA -0.05791175 NA FALSE NA 0.001 1.175 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 7/7 rs547708914 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CAT A,T 8.238e-06 11:60901574 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00003788733 intron_variant 1.159966 0.28439 0.34651 0.099367 0.8765773 0.0764583 0.9985667 TRUE 4.09997e-06 ENSE00002398372_014 ENSE00002398372 014 11 60668912 60669081 - 59 42 69 C G 60669052 1402 30 TGACCAGCATCTAATGTACTTTTCTCCTTCCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 60901579 60901580 60901580 upstr_intron -40 -0.5652174 TGACCAGCATCTAATGTACTTTTCTCCTTCCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC mutant 69 101 0.9033768 0.9325395 0.9179582 NA NA NA NA NA 0.9473798 0.8888962 0.9801815 0.9426512 -0.04400296 0.04364332 NA NA 0.918138 0.9614163 -0.0001798228 NA NA NA FALSE 0 0.185 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 7/7 1 NA GCA C,G 4.118e-05 11:60901580 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00003788733 intron_variant 0.96383 0.25395 0.25883 0.093477 0.7366356 0.0764583 0.9985667 TRUE 2.46662e-05 ENSE00002398372_015 ENSE00002398372 015 11 60668912 60669081 - 59 42 69 A G 60669054 1403 28 TGACCAGCATCTAATGTACTTTTCTCCCTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 60901581 60901582 60901582 upstr_intron -42 -0.5942029 TGACCAGCATCTAATGTACTTTTCTCCCTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC mutant 50 75 0.85 0.85 0.85 756 346 0.9588021 0.913847 0.9363245 0.9473798 0.8888962 0.9801815 0.9426512 -0.09737979 -0.03889621 -0.02137944 -0.02880416 0.918138 0.9614163 -0.068138 -0.0250918 0.0430462 FALSE FALSE 0 1.705 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 7/7 1 NA AAG A,G 2.471e-05 11:60901582 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00003788733 intron_variant 1.316926 0.2906 0.29866 0.093477 0.7834748 0.584597 0.9985667 TRUE 1.64368e-05 ENSE00002398372_017 ENSE00002398372 017 11 60668912 60669081 - 59 42 69 G A 60669058 1405 24 TGACCAGCATCTAATGTACTTTTTTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC 60901439 60901609 60901585 60901586 60901586 upstr_intron -46 -0.6521739 TGACCAGCATCTAATGTACTTTTTTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC TGACCAGCATCTAATGTACTTTTCTCCTTGCAAGATGATTTGTCTCACATTGAGCCTGTTCTTCCCCAGCTTCAAGACAAAGCCACTGTGCTAACCACGGAGCGCAAGAAGGTGAGTTCTCTTTCTGAAGCCTGGAGAAAGAGCTGGCCTGGTGGGAGGCGGTTGACTCC mutant NA NA NA NA NA 50 251 0.9433997 0.9505955 0.9469976 0.9473798 0.8888962 0.9801815 0.9426512 NA NA -0.03678175 0.007944292 0.918138 0.9614163 NA -0.01441873 NA FALSE NA 0 0.232 . intron_variant MODIFIER PRPF19 HGNC 17896 ENST00000546152 7/7 1 NA AGA G,A 8.237e-06 11:60901586 PRPF19 HGNC Symbol protein_coding 15858 ENSG00000110107 ENSE00003788733 intron_variant 0.595131 0.26242 0.05152 0.093477 0.7272821 0.0764583 0.9985667 TRUE 8.24273e-06 ENSE00002398572_000 ENSE00002398572 000 2 234871884 234872053 + 42 96 32 NA NA NA NA NA GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 NA NA NA NA NA NA GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC natural NA NA NA NA NA 1198 1857 0.8991793 0.9611692 0.9301743 NA NA 0.8991793 0.9611692 NA NA 0 0 NA 0.9301743 NA 0 NA FALSE NA NA NA NA NA NA TRPM8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPM8 NA NA NA ENSG00000144481 ENSE00003462266 NA NA NA NA NA NA NA 4.736798e-15 FALSE NA ENSE00002398572_002 ENSE00002398572 002 2 234871884 234872053 + 42 96 32 C T 234871918 5466 35 GTTTCCATTTGCACATGCTGACCACATGCTCTAATCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963273 233963274 233963274 upstr_intron -8 -0.1666667 GTTTCCATTTGCACATGCTGACCACATGCTCTAATCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 202 24 1 1 1 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03883077 NA 0.9301743 NA 0.06982572 NA FALSE NA 0 0.018 . splice_region_variant&intron_variant&NMD_transcript_variant LOW TRPM8 HGNC 17961 ENST00000444298 13/24 1 NA ACC C,T 2.471e-05 2:233963274 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 splice_region_variant 0.106675 0.22073 0.05065 0.053691 0.364827 0.155048 4.736798e-15 FALSE 2.05093e-05 ENSE00002398572_003 ENSE00002398572 003 2 234871884 234872053 + 42 96 32 C A 234871923 5467 40 GGTGTAAATCTGATGTGGGCTTGGGCACTTACCTGCTCCCAAATGACTTTGGAGAGTTCCTTCTTATTCTGAAGAATGGCCCAGATGAAGAGAGCTTGCAGGGGGTGCCGAGTAATAGGAGACACGTCCTTGGGGGTTAGAGCATGTGGTCAGCATGTGCAAATGGAAAC 233963239 233963409 233963278 233963279 233963279 upstr_intron -3 -0.04761905 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCAAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 138 434 0.9212441 0.920662 0.920953 NA NA 0.8991793 0.9611692 NA NA 0.02206473 -0.04050721 NA 0.9301743 NA -0.009221239 NA FALSE NA 0.984 3.349 . splice_region_variant&intron_variant&NMD_transcript_variant LOW TRPM8 HGNC 17961 ENST00000444298 13/24 rs201073316 1 NA CCA C,A 1.647e-05 2:233963279 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 splice_region_variant 1.849387 0.97944 0.93391 0.053691 0.8869166 0.865507 4.736798e-15 FALSE 1.22367e-05 ENSE00002398572_004 ENSE00002398572 004 2 234871884 234872053 + 42 96 32 C G 234871928 5468 45 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGAGGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963283 233963284 233963284 exon 3 0.03125 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGAGGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 646 94 0.9339761 0.8107818 0.872379 NA NA 0.8991793 0.9611692 NA NA 0.03479682 -0.1503874 NA 0.9301743 NA -0.0577953 NA FALSE NA 0.693 -0.494 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW TRPM8 HGNC 17961 ENST00000444298 14/25 1 NA ACG C,G 8.237e-06 2:233963284 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 missense_variant -0.688303 0.61005 0.36202 0.487112 0.9315123 0 4.736798e-15 FALSE 8.15036e-06 ENSE00002398572_005 ENSE00002398572 005 2 234871884 234872053 + 42 96 32 G A 234871929 5469 46 GGTGTAAATCTGATGTGGGCTTGGGCACTTACCTGCTCCCAAATGACTTTGGAGAGTTCCTTCTTATTCTGAAGAATGGCCCAGATGAAGAGAGCTTGCAGGGGGTGCCGAGTAATAGGAGACATGTCCTGGGGGGTTAGAGCATGTGGTCAGCATGTGCAAATGGAAAC 233963239 233963409 233963284 233963285 233963285 exon 4 0.04166667 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACATGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 18 215 0.8926424 0.9409799 0.9168111 NA NA 0.8991793 0.9611692 NA NA -0.006536943 -0.02018932 NA 0.9301743 NA -0.01336313 NA FALSE NA 1 3.852 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/25 COSM3426234 1 NA CGT G,A 3.295e-05 2:233963285 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 missense_variant 2.721124 0.94807 0.95177 0.487112 0.9836891 0 4.736798e-15 FALSE 1.22222e-05 ENSE00002398572_006 ENSE00002398572 006 2 234871884 234872053 + 42 96 32 G A 234871931 5470 48 GGTGTAAATCTGATGTGGGCTTGGGCACTTACCTGCTCCCAAATGACTTTGGAGAGTTCCTTCTTATTCTGAAGAATGGCCCAGATGAAGAGAGCTTGCAGGGGGTGCCGAGTAATAGGAGATACGTCCTGGGGGGTTAGAGCATGTGGTCAGCATGTGCAAATGGAAAC 233963239 233963409 233963286 233963287 233963287 exon 6 0.0625 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTATCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 118 340 1 1 1 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03883077 NA 0.9301743 NA 0.06982572 NA FALSE NA 1 0.575 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/25 rs568957487&COSM210454 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 5.766e-05 2:233963287 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 synonymous_variant 1.075805 0.95022 0.75479 0.487112 0.7659924 0 4.736798e-15 FALSE 4.07315e-05 ENSE00002398572_007 ENSE00002398572 007 2 234871884 234872053 + 42 96 32 C T 234871944 5471 61 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTTGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963299 233963300 233963300 exon 19 0.1979167 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTTGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 41 363 0.9693249 0.9988384 0.9840816 NA NA 0.8991793 0.9611692 NA NA 0.07014554 0.03766913 NA 0.9301743 NA 0.05390734 NA FALSE NA 0.998 2.508 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/25 rs202225959 1 NA TCG C,T 8.237e-06 2:233963300 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 missense_variant 6.780275 0.97226 0.80375 0.487112 0.9986005 0 4.736798e-15 FALSE 8.13848e-06 ENSE00002398572_009 ENSE00002398572 009 2 234871884 234872053 + 42 96 32 G A 234871945 5473 62 GGTGTAAATCTGATGTGGGCTTGGGCACTTACCTGCTCCCAAATGACTTTGGAGAGTTCCTTCTTATTCTGAAGAATGGCCCAGATGAAGAGAGCTTGCAGGGGGTGCTGAGTAATAGGAGACACGTCCTGGGGGGTTAGAGCATGTGGTCAGCATGTGCAAATGGAAAC 233963239 233963409 233963300 233963301 233963301 exon 20 0.2083333 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCAGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 218 710 1 0.9924992 0.9962496 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03132999 NA 0.9301743 NA 0.06607533 NA FALSE NA 1 5.503 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:233963301 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 missense_variant 5.343742 0.98211 0.92982 0.487112 0.9969588 0 4.736798e-15 FALSE 8.14299e-06 ENSE00002398572_012 ENSE00002398572 012 2 234871884 234872053 + 42 96 32 C T 234871952 5476 69 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCTCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963307 233963308 233963308 exon 27 0.28125 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCTCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 100 35 1 1 1 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03883077 NA 0.9301743 NA 0.06982572 NA FALSE NA 0.001 -1.39 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:233963308 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 synonymous_variant 2.017682 0.95889 0.18769 0.487112 0.6467062 0 4.736798e-15 FALSE 4.07047e-06 ENSE00002398572_013 ENSE00002398572 013 2 234871884 234872053 + 42 96 32 C G 234871952 5477 69 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCGCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963307 233963308 233963308 exon 27 0.28125 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCGCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 185 53 1 1 1 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03883077 NA 0.9301743 NA 0.06982572 NA FALSE NA 0.001 -1.39 NA NA NA TRPM8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPM8 NA NA NA ENSG00000144481 ENSE00003462266 synonymous_variant 1.547135 0.96096 0.19659 0.487112 0.7149412 0 4.736798e-15 FALSE 2.03523e-05 ENSE00002398572_015 ENSE00002398572 015 2 234871884 234872053 + 42 96 32 C G 234871970 5479 87 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATGTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963325 233963326 233963326 exon 45 0.46875 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATGTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 110 178 1 1 1 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03883077 NA 0.9301743 NA 0.06982572 NA FALSE NA 1 0.482 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/25 rs377499850 1 NA G:0.0002 G:0 TCT C,G 1.647e-05 2:233963326 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 missense_variant 5.521083 0.97629 0.88709 0.487112 0.9972978 0 4.736798e-15 FALSE 8.14034e-06 ENSE00002398572_016 ENSE00002398572 016 2 234871884 234872053 + 42 96 32 A G 234871984 5480 101 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCGGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963339 233963340 233963340 exon -38 0.6145833 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCGGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 13 1020 1 0.9988728 0.9994364 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03770354 NA 0.9301743 NA 0.06926211 NA FALSE NA 1 7.758 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/25 rs201451492 1 NA CAG A,G 1.647e-05 2:233963340 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 missense_variant 5.676489 0.98679 0.99313 0.487112 0.9987111 0 4.736798e-15 FALSE 4.88568e-05 ENSE00002398572_017 ENSE00002398572 017 2 234871884 234872053 + 42 96 32 A C 234871987 5481 104 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGACTAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963342 233963343 233963343 exon -35 0.6458333 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGACTAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 210 295 0.9939685 0.9981732 0.9960709 NA NA 0.8991793 0.9611692 NA NA 0.09478919 0.03700399 NA 0.9301743 NA 0.06589659 NA FALSE NA 1 7.758 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/25 rs201960730 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AAT A,C 0.0002224 2:233963343 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 missense_variant 5.615058 0.987 0.99392 0.487112 0.9970677 0 4.736798e-15 FALSE 0.0001995 ENSE00002398572_019 ENSE00002398572 019 2 234871884 234872053 + 42 96 32 A C 234871992 5483 109 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGCAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963347 233963348 233963348 exon -30 0.6979167 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGCAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 329 21 0.8997633 1 0.9498816 NA NA 0.8991793 0.9611692 NA NA 0.0005839485 0.03883077 NA 0.9301743 NA 0.01970736 NA FALSE NA 1 5.733 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/25 1 NA GAA A,C 8.237e-06 2:233963348 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 missense_variant 2.573767 0.987 0.9805 0.487112 0.986505 0 4.736798e-15 FALSE 4.07239e-06 ENSE00002398572_023 ENSE00002398572 023 2 234871884 234872053 + 42 96 32 A G 234872025 5487 142 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAGGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 233963380 233963381 233963381 downstr_intron 4 1.129032 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAGGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 259 387 1 1 1 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03883077 NA 0.9301743 NA 0.06982572 NA FALSE NA 0.029 0.885 . splice_region_variant&intron_variant&NMD_transcript_variant LOW TRPM8 HGNC 17961 ENST00000444298 14/24 1 NA AAG A,G 8.237e-06 2:233963381 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 splice_region_variant -0.183831 0.26455 0.17498 0.053691 0.535331 0.130891 4.736798e-15 FALSE 8.22781e-06 ENSE00002398572_025 ENSE00002398572 025 2 234871884 234872053 + 42 96 32 A T 234872032 5489 149 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCTAGCCCACATCAGATTTACACC 233963239 233963409 233963387 233963388 233963388 downstr_intron 11 1.354839 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCTAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 259 36 0.9990427 0.9989358 0.9989893 NA NA 0.8991793 0.9611692 NA NA 0.09986339 0.03776658 NA 0.9301743 NA 0.06881499 NA FALSE NA 0 0.224 . intron_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/24 1 NA CAA A,T 8.237e-06 2:233963388 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 intron_variant 0.2607 0.22993 0.05792 0.053691 0.6161564 0.0436289 4.736798e-15 FALSE 8.28288e-06 ENSE00002398572_026 ENSE00002398572 026 2 234871884 234872053 + 42 96 32 C G 234872042 5490 159 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATGAGATTTACACC 233963239 233963409 233963397 233963398 233963398 downstr_intron 21 1.677419 GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATGAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC mutant NA NA NA NA NA 33 59 1 1 1 NA NA 0.8991793 0.9611692 NA NA 0.1008207 0.03883077 NA 0.9301743 NA 0.06982572 NA FALSE NA 0 -0.126 . intron_variant&NMD_transcript_variant MODIFIER TRPM8 HGNC 17961 ENST00000444298 14/24 1 NA TCA C,G 8.237e-06 2:233963398 TRPM8 HGNC Symbol protein_coding 102124 ENSG00000144481 ENSE00003462266 intron_variant 0.038969 0.2032 0.02573 0.053691 0.4558756 0.0436289 4.736798e-15 FALSE 4.24711e-06 ENSE00002398572_BRK ENSE00002398572 BRK 2 234871884 234872053 + 42 96 32 A,G; T,T NA NA NA GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCTTGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGCCAAGTGCCCAAGCCCACATCAGATTTACACC 233963239 233963409 NA NA NA NA NA NA GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCTTGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGCCAAGTGCCCAAGCCCACATCAGATTTACACC GTTTCCATTTGCACATGCTGACCACATGCTCTAACCCCCCAGGACGTGTCTCCTATTACTCGGCACCCCCTGCAAGCTCTCTTCATCTGGGCCATTCTTCAGAATAAGAAGGAACTCTCCAAAGTCATTTGGGAGCAGGTAAGTGCCCAAGCCCACATCAGATTTACACC control 307 118 0 0 0 NA NA NA NA NA NA NA 0.8991793 0.9611692 NA NA NA NA NA 0.9301743 NA NA NA NA NA NA NA NA NA NA TRPM8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPM8 NA NA NA ENSG00000144481 ENSE00003462266 NA NA NA NA NA NA NA 4.736798e-15 FALSE NA ENSE00002398934_000 ENSE00002398934 000 3 183685439 183685608 - 44 72 54 NA NA NA NA NA CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT 183967650 183967820 NA NA NA NA NA NA CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT natural 68 56 0.9964638 0.9736981 0.9850809 3273 2568 0.9363333 0.8150899 0.8757116 0.9964638 0.9736981 0.9363333 0.8150899 0 0 0 0 0.9850809 0.8757116 0 0 0 FALSE FALSE NA NA NA NA NA ABCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC5 NA NA NA ENSG00000114770 ENSE00003545580 NA NA NA NA NA NA NA 0.8962051 FALSE NA ENSE00002398934_002 ENSE00002398934 002 3 183685439 183685608 - 44 72 54 C T 183685455 3728 154 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTACTGCTTTCTCTGGTTT 183967650 183967820 183967666 183967667 183967667 downstr_intron 28 1.651163 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTACTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT mutant NA NA NA NA NA 147 12 0.9928874 0.8206221 0.9067548 0.9964638 0.9736981 0.9363333 0.8150899 NA NA 0.0565541 0.005532146 0.9850809 0.8757116 NA 0.03104313 NA FALSE NA 0.001 0.741 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC5 HGNC 56 ENST00000476402 2/2 1 NA GCA C,T 8.275e-06 3:183967667 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003545580 non_coding_transcript_exon_variant 0.588296 0.31064 0.63127 0.106106 0.5482817 0.728573 0.8962051 FALSE 4.06412e-06 ENSE00002398934_003 ENSE00002398934 003 3 183685439 183685608 - 44 72 54 G A 183685457 3729 152 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTTTGCTGCTTTCTCTGGTTT 183967650 183967820 183967668 183967669 183967669 downstr_intron 26 1.604651 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTTTGCTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT mutant NA NA NA NA NA 137 35 0.9988796 1 0.9994398 0.9964638 0.9736981 0.9363333 0.8150899 NA NA 0.06254623 0.1849101 0.9850809 0.8757116 NA 0.1237281 NA FALSE NA 0.005 2.461 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC5 HGNC 56 ENST00000476402 2/2 rs575007742 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGA G,A 0.0001821 3:183967669 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003545580 non_coding_transcript_exon_variant 0.235121 0.24357 0.70479 0.106106 0.6770825 0.12832 0.8962051 FALSE 0.000125977 ENSE00002398934_005 ENSE00002398934 005 3 183685439 183685608 - 44 72 54 T C 183685494 3731 115 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCGTTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT 183967650 183967820 183967705 183967706 183967706 exon -12 0.8472222 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCGTTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT mutant NA NA NA NA NA 130 926 0.9951526 0.9973256 0.9962391 0.9964638 0.9736981 0.9363333 0.8150899 NA NA 0.05881925 0.1822356 0.9850809 0.8757116 NA 0.1205274 NA FALSE NA 1 1.559 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC5 HGNC 56 ENST00000476402 2/2 1 NA ATG T,C 8.275e-06 3:183967706 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003545580 missense_variant 2.133475 0.98127 0.93613 0.732398 0.9985432 0 0.8962051 FALSE 4.06144e-06 ENSE00002398934_006 ENSE00002398934 006 3 183685439 183685608 - 44 72 54 C T 183685497 3732 112 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAACCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT 183967650 183967820 183967708 183967709 183967709 exon -15 0.8055556 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAACCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT mutant NA NA NA NA NA 135 39 1 1 1 0.9964638 0.9736981 0.9363333 0.8150899 NA NA 0.06366667 0.1849101 0.9850809 0.8757116 NA 0.1242884 NA FALSE NA 1 5.807 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC5 HGNC 56 ENST00000476402 2/2 1 NA GCT C,T 1.655e-05 3:183967709 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003545580 missense_variant 7.005628 0.9922 0.98708 0.732398 0.9990939 0 0.8962051 FALSE 8.12301e-06 ENSE00002398934_007 ENSE00002398934 007 3 183685439 183685608 - 44 72 54 T C 183685498 3733 111 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCGGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT 183967650 183967820 183967709 183967710 183967710 exon -16 0.7916667 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCGGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT mutant NA NA NA NA NA 735 1438 1 0.9970896 0.9985448 0.9964638 0.9736981 0.9363333 0.8150899 NA NA 0.06366667 0.1819996 0.9850809 0.8757116 NA 0.1228331 NA FALSE NA 0.874 -0.124 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC5 HGNC 56 ENST00000476402 2/2 1 NA CTG T,C 1.655e-05 3:183967710 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003545580 synonymous_variant 0.771958 0.93402 0.82141 0.732398 0.7279606 0 0.8962051 FALSE 8.12315e-06 ENSE00002398934_008 ENSE00002398934 008 3 183685439 183685608 - 44 72 54 G A 183685508 3734 101 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTTTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT 183967650 183967820 183967719 183967720 183967720 exon -26 0.6527778 CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTTTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT mutant NA NA NA NA NA 19 284 0.959277 0.9617589 0.960518 0.9964638 0.9736981 0.9363333 0.8150899 NA NA 0.02294365 0.146669 0.9850809 0.8757116 NA 0.08480632 NA FALSE NA 1 9.452 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ABCC5 HGNC 56 ENST00000476402 2/2 1 NA AGA G,A 1.655e-05 3:183967720 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003545580 missense_variant 6.713418 0.99558 0.99607 0.732398 0.9983099 0 0.8962051 FALSE 8.12262e-06 ENSE00002398934_011 ENSE00002398934 011 3 183685439 183685608 - 44 72 54 A G 183685597 3737 12 CGATGAGTGGTCAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT 183967650 183967820 183967808 183967809 183967809 upstr_intron -43 -0.7777778 CGATGAGTGGTCAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT mutant NA NA NA NA NA 425 271 0.9525497 0.9518276 0.9521886 0.9964638 0.9736981 0.9363333 0.8150899 NA NA 0.01621633 0.1367376 0.9850809 0.8757116 NA 0.07647698 NA FALSE NA 0 0 rs28365013 intron_variant&non_coding_transcript_variant MODIFIER ABCC5 HGNC 56 ENST00000476402 1/1 rs28365013 1 G:0.0166 G:0.0598 G:0.0043 NA G:0 G:0.001 G:0 G:0.0567 G:0.0004 TAA A,G 0.005492 3:183967809 ABCC5 HGNC Symbol protein_coding 98081 ENSG00000114770 ENSE00003545580 intron_variant 0.010258 0.08967 0.00048 0.088506 0.5285015 0.054081 0.8962051 FALSE 0.00456476 ENSE00002398934_BRK ENSE00002398934 BRK 3 183685439 183685608 - 44 72 54 A,G; T,T NA NA NA CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCTTGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGCCAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT 183967650 183967820 NA NA NA NA NA NA CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCTTGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGCCAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT CGATGAGTGGTTAGTAGTCTCTAAATGACCCTCCTCTCTGTGTGCCTTGTCCAGGGTAAACTGGTTGGAATCTGTGGCAGTGTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGGTAAGATTTTTGTTATTGTCCTTTTCTGCTGCTTTCTCTGGTTT control 146 59 0 0 0 910 27 0.008721302 0 0.004360651 0.9964638 0.9736981 0.9363333 0.8150899 -0.9964638 -0.9736981 -0.927612 -0.8150899 0.9850809 0.8757116 -0.9850809 -0.871351 0.11373 TRUE TRUE NA NA NA NA NA ABCC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ABCC5 NA NA NA ENSG00000114770 ENSE00003545580 NA NA NA NA NA NA NA 0.8962051 FALSE NA ENSE00002399206_000 ENSE00002399206 000 7 140064170 140064339 - 38 84 48 NA NA NA NA NA ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 NA NA NA NA NA NA ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG natural 44 16 0.9966763 0.9858902 0.9912833 5315 4728 0.889121 0.892525 0.890823 0.9966763 0.9858902 0.889121 0.892525 0 0 0 0 0.9912833 0.890823 0 0 0 FALSE FALSE NA NA NA NA NA SLC37A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC37A3 NA NA NA ENSG00000157800 ENSE00003648289 NA NA NA NA NA NA NA 7.163385e-08 FALSE NA ENSE00002399206_001 ENSE00002399206 001 7 140064170 140064339 - 38 84 48 A T 140064182 2841 158 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATAATTTTGGTCAGG 140364369 140364539 140364381 140364382 140364382 downstr_intron 26 1.702703 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATAATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 2741 1742 0.998257 0.8521787 0.9252178 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1091359 -0.04034637 0.9912833 0.890823 NA 0.03439479 NA FALSE NA 0 -0.212 . intron_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/4 rs371496975 1 NA T:0 T:0.0001 TAA A,T 3.295e-05 7:140364382 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 intron_variant -0.12426 0.13492 0.03834 0.162113 0.7558825 0.0656782 7.163385e-08 FALSE 7.78156e-05 ENSE00002399206_003 ENSE00002399206 003 7 140064170 140064339 - 38 84 48 T C 140064198 2843 142 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAGAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364397 140364398 140364398 downstr_intron 10 1.27027 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAGAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 3765 1775 0.9774426 0.9939238 0.9856832 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.08832158 0.1013987 0.9912833 0.890823 NA 0.09486015 NA FALSE NA 0.606 0.903 . intron_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/4 rs369019500 1 NA C:0.0005 C:0 TTT T,C 1.647e-05 7:140364398 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 intron_variant 1.081644 0.39861 0.08349 0.162113 0.7142767 0.108426 7.163385e-08 FALSE 8.1941e-06 ENSE00002399206_004 ENSE00002399206 004 7 140064170 140064339 - 38 84 48 T G 140064199 2844 141 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGCAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364398 140364399 140364399 downstr_intron 9 1.243243 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGCAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 2973 842 0.9982956 0.9959366 0.9971161 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1091745 0.1034115 0.9912833 0.890823 NA 0.106293 NA FALSE NA 0.488 -0.078 . intron_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/4 1 NA TTC T,G 8.237e-06 7:140364399 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 intron_variant 1.196536 0.35532 0.04161 0.162113 0.7390768 0.108426 7.163385e-08 FALSE 4.09527e-06 ENSE00002399206_005 ENSE00002399206 005 7 140064170 140064339 - 38 84 48 C T 140064200 2845 140 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTAAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364399 140364400 140364400 downstr_intron 8 1.216216 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTAAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 827 1166 0.9985983 0.9996074 0.9991028 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1094772 0.1070823 0.9912833 0.890823 NA 0.1082798 NA FALSE NA 0.479 0.29 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC37A3 HGNC 20651 ENST00000461089 4/4 1 NA TCA C,T 8.237e-06 7:140364400 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 splice_region_variant 1.184839 0.66604 0.07946 0.162113 0.804555 0.108426 7.163385e-08 FALSE NA ENSE00002399206_006 ENSE00002399206 006 7 140064170 140064339 - 38 84 48 C A 140064207 2846 133 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGTTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364406 140364407 140364407 downstr_intron 1 1.027027 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGTTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 601 179 0.04779728 0.09089145 0.06934437 0.9966763 0.9858902 0.889121 0.892525 NA NA -0.8413237 -0.8016336 0.9912833 0.890823 NA -0.8214787 NA TRUE NA 1 6.548 rs145928566 splice_donor_variant&non_coding_transcript_variant HIGH SLC37A3 HGNC 20651 ENST00000461089 4/4 1 NA ACC C,A 8.236e-06 7:140364407 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 splice_donor_variant 5.209822 0.99166 0.97871 0.162113 0.9951732 0.971422 7.163385e-08 FALSE 4.08563e-06 ENSE00002399206_007 ENSE00002399206 007 7 140064170 140064339 - 38 84 48 A G 140064209 2847 131 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGCGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364408 140364409 140364409 exon -2 0.9880952 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGCGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 912 589 0.9954482 0.9865387 0.9909934 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1063272 0.09401365 0.9912833 0.890823 NA 0.1001704 NA FALSE NA 1 6.042 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW SLC37A3 HGNC 20651 ENST00000461089 4/5 1 NA CAC A,G 8.236e-06 7:140364409 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 missense_variant 1.90097 0.98953 0.95199 0.732398 0.9907134 0 7.163385e-08 FALSE 1.22456e-05 ENSE00002399206_008 ENSE00002399206 008 7 140064170 140064339 - 38 84 48 A G 140064212 2848 128 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATCAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364411 140364412 140364412 exon -5 0.952381 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATCAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 1088 207 0.9966022 0.9985155 0.9975589 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1074812 0.1059905 0.9912833 0.890823 NA 0.1067358 NA FALSE NA 0.304 4.828 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/5 rs373969349 1 NA G:0 G:0.0001 TAA A,G 8.236e-06 7:140364412 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 missense_variant 3.316888 0.38641 0.48701 0.732398 0.9931928 0 7.163385e-08 FALSE 4.0808e-06 ENSE00002399206_009 ENSE00002399206 009 7 140064170 140064339 - 38 84 48 G A 140064215 2849 125 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGTATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364414 140364415 140364415 exon -8 0.9166667 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGTATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 1209 92 0.9990087 0.995316 0.9971623 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1098876 0.1027909 0.9912833 0.890823 NA 0.1063393 NA FALSE NA 1 8.251 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/5 rs376443048 1 NA A:0 A:0.0001 TGC G,A 8.236e-06 7:140364415 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 missense_variant 6.56098 0.99168 0.98382 0.732398 0.9990879 0 7.163385e-08 FALSE 4.07681e-06 ENSE00002399206_010 ENSE00002399206 010 7 140064170 140064339 - 38 84 48 G A 140064221 2850 119 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTTTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364420 140364421 140364421 exon -14 0.8452381 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTTTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 2244 1858 0.9660988 0.9794759 0.9727873 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.07697776 0.08695084 0.9912833 0.890823 NA 0.0819643 NA FALSE NA 1 5.93 rs149190269 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/5 rs149190269 1 A:0.0018 A:0 A:0 NA A:0.0089 A:0 A:0 AGA G,A 0.000626 7:140364421 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 missense_variant 3.997372 0.97995 0.93233 0.732398 0.997277 0 7.163385e-08 FALSE 0.000610948 ENSE00002399206_012 ENSE00002399206 012 7 140064170 140064339 - 38 84 48 G A 140064249 2852 91 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGTGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364448 140364449 140364449 exon -42 0.5119048 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGTGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 50 292 0.9713411 0.9794144 0.9753778 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.0822201 0.08688941 0.9912833 0.890823 NA 0.08455476 NA FALSE NA 1 6.464 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:140364449 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 stop_gained 9.616205 0.98098 0.9624 0.732398 0.9977894 0 7.163385e-08 FALSE 1.22022e-05 ENSE00002399206_013 ENSE00002399206 013 7 140064170 140064339 - 38 84 48 G T 140064249 2853 91 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGAGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364448 140364449 140364449 exon -42 0.5119048 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGAGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 712 145 0.9879451 0.9945587 0.9912519 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.09882409 0.1020336 0.9912833 0.890823 NA 0.1004289 NA FALSE NA 1 6.464 NA NA NA SLC37A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC37A3 NA NA NA ENSG00000157800 ENSE00003648289 synonymous_variant 1.051178 0.9816 0.96697 0.732398 0.6431094 0 7.163385e-08 FALSE 4.06739e-06 ENSE00002399206_015 ENSE00002399206 015 7 140064170 140064339 - 38 84 48 T A 140064263 2855 77 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGTTCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364462 140364463 140364463 exon 29 0.3452381 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGTTCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 3120 629 0.9500176 0.9695199 0.9597687 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.06089656 0.07699485 0.9912833 0.890823 NA 0.0689457 NA FALSE NA 1 6.732 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/5 1 NA ATC T,A 1.647e-05 7:140364463 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 missense_variant 6.212754 0.98939 0.97504 0.732398 0.9938942 0 7.163385e-08 FALSE 2.43938e-05 ENSE00002399206_016 ENSE00002399206 016 7 140064170 140064339 - 38 84 48 C A 140064265 2856 75 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGTGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364464 140364465 140364465 exon 27 0.3214286 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGTGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 1282 977 0.9991254 1 0.9995627 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1100044 0.107475 0.9912833 0.890823 NA 0.1087397 NA FALSE NA 0.482 -0.405 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/5 1 NA CCC C,A 8.236e-06 7:140364465 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 synonymous_variant 2.219723 0.96103 0.40305 0.732398 0.6226097 0 7.163385e-08 FALSE 4.06593e-06 ENSE00002399206_017 ENSE00002399206 017 7 140064170 140064339 - 38 84 48 T C 140064273 2857 67 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCGTCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364472 140364473 140364473 exon 19 0.2261905 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCGTCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 319 337 0.7884815 0.972226 0.8803538 0.9966763 0.9858902 0.889121 0.892525 NA NA -0.1006395 0.07970099 0.9912833 0.890823 NA -0.01046927 NA FALSE NA 0.963 0.999 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/5 1 NA ATG T,C 2.471e-05 7:140364473 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 missense_variant 0.474942 0.9712 0.6861 0.732398 0.7493393 0 7.163385e-08 FALSE 2.03272e-05 ENSE00002399206_018 ENSE00002399206 018 7 140064170 140064339 - 38 84 48 G A 140064274 2858 66 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGTATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364473 140364474 140364474 exon 18 0.2142857 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGTATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 37 15 0.9640424 0.9584071 0.9612247 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.07492138 0.06588205 0.9912833 0.890823 NA 0.07040171 NA FALSE NA 0.935 -0.042 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/5 1 NA TGC G,A 8.236e-06 7:140364474 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 synonymous_variant 1.298605 0.96576 0.67792 0.732398 0.6327569 0 7.163385e-08 FALSE 4.06573e-06 ENSE00002399206_019 ENSE00002399206 019 7 140064170 140064339 - 38 84 48 A G 140064277 2859 63 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGCGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364476 140364477 140364477 exon 15 0.1785714 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGCGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 1021 574 0.9996771 0.9934129 0.996545 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1105561 0.1008878 0.9912833 0.890823 NA 0.105722 NA FALSE NA 0.631 -0.119 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 4/5 1 NA CAC A,G 8.236e-06 7:140364477 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 synonymous_variant 0.474005 0.92028 0.31151 0.732398 0.6610126 0 7.163385e-08 FALSE 4.06531e-06 ENSE00002399206_020 ENSE00002399206 020 7 140064170 140064339 - 38 84 48 T C 140064299 2860 41 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTGTTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364498 140364499 140364499 upstr_intron -8 -0.1458333 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTGTTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 1178 2300 0.9988272 0.9987829 0.998805 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1097061 0.1062579 0.9912833 0.890823 NA 0.107982 NA FALSE NA 0 -3.718 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC37A3 HGNC 20651 ENST00000461089 3/4 1 NA ATA T,C 8.237e-06 7:140364499 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 splice_region_variant -0.312113 0.09529 0.01227 0.088506 0.4726905 0.14647 7.163385e-08 FALSE 8.17074e-06 ENSE00002399206_021 ENSE00002399206 021 7 140064170 140064339 - 38 84 48 G A 140064303 2861 37 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGTTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364502 140364503 140364503 upstr_intron -12 -0.2291667 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGTTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 986 1067 0.9977028 0.8616471 0.929675 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1085818 -0.03087795 0.9912833 0.890823 NA 0.03885193 NA FALSE NA 0.001 -0.387 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:140364503 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 intron_variant 0.541909 0.18516 0.03652 0.088506 0.6474251 0.145957 7.163385e-08 FALSE 4.09269e-06 ENSE00002399206_022 ENSE00002399206 022 7 140064170 140064339 - 38 84 48 G T 140064303 2862 37 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGATTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364502 140364503 140364503 upstr_intron -12 -0.2291667 ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGATTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 578 2013 0.9596439 0.955246 0.9574449 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.07052286 0.06272093 0.9912833 0.890823 NA 0.0666219 NA FALSE NA 0.001 -0.387 NA NA NA SLC37A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC37A3 NA NA NA ENSG00000157800 ENSE00003648289 intron_variant 0.257572 0.19537 0.04071 0.088506 0.6230402 0.145957 7.163385e-08 FALSE 4.09269e-06 ENSE00002399206_023 ENSE00002399206 023 7 140064170 140064339 - 38 84 48 T C 140064313 2863 27 ATACTGTGTTATTATTTAGAGCTGTAGAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364512 140364513 140364513 upstr_intron -22 -0.4375 ATACTGTGTTATTATTTAGAGCTGTAGAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 493 2218 0.095069 0.01175394 0.05341147 0.9966763 0.9858902 0.889121 0.892525 NA NA -0.794052 -0.8807711 0.9912833 0.890823 NA -0.8374116 NA TRUE NA 0.468 2.817 . intron_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/4 1 NA TTT T,C 8.237e-06 7:140364513 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 intron_variant 0.432621 0.2708 0.42976 0.088506 0.5780602 0.0957265 7.163385e-08 FALSE 4.11746e-06 ENSE00002399206_024 ENSE00002399206 024 7 140064170 140064339 - 38 84 48 A G 140064324 2864 16 ATACTGTGTTATTATCTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 140364523 140364524 140364524 upstr_intron -33 -0.6666667 ATACTGTGTTATTATCTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG mutant NA NA NA NA NA 937 251 0.9995159 0.9862415 0.9928787 0.9966763 0.9858902 0.889121 0.892525 NA NA 0.1103949 0.0937165 0.9912833 0.890823 NA 0.1020557 NA FALSE NA 0 1.042 . intron_variant&non_coding_transcript_variant MODIFIER SLC37A3 HGNC 20651 ENST00000461089 3/4 1 NA AAA A,G 1.647e-05 7:140364524 SLC37A3 HGNC Symbol protein_coding 110740 ENSG00000157800 ENSE00003648289 intron_variant 0.329138 0.21269 0.09294 0.088506 0.6297662 0.0957265 7.163385e-08 FALSE 8.37072e-06 ENSE00002399206_BRK ENSE00002399206 BRK 7 140064170 140064339 - 38 84 48 A,G; T,T NA NA NA ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTTTGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGCCAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG 140364369 140364539 NA NA NA NA NA NA ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTTTGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGCCAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG ATACTGTGTTATTATTTAGAGCTGTAAAAGAAAATGCTTTATTTTTAGGGCCTATTCATCAGTGGCATCGTTGGGGATCGGTTGAATTTGCGATGGGTTCTGTCTTTTGGCATGTGCTCTTCTGCATTAGTGGTAAGTTGAAAGGTCTTATTATTATTATTTTGGTCAGG control 177 82 0 0 0 740 94 0.1298528 0 0.06492642 0.9966763 0.9858902 0.889121 0.892525 -0.9966763 -0.9858902 -0.7592682 -0.892525 0.9912833 0.890823 -0.9912833 -0.8258966 0.1653867 TRUE TRUE NA NA NA NA NA SLC37A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC37A3 NA NA NA ENSG00000157800 ENSE00003648289 NA NA NA NA NA NA NA 7.163385e-08 FALSE NA ENSE00002399211_000 ENSE00002399211 000 5 149313458 149313627 - 35 90 45 NA NA NA NA NA ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 NA NA NA NA NA NA ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC natural 20 29 0.9980007 1 0.9990003 499 1183 0.8196822 0.9986283 0.9091552 0.9980007 1 0.8196822 0.9986283 0 0 0 0 0.9990003 0.9091552 0 0 0 FALSE FALSE NA NA NA NA NA AC008427.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003621465 NA NA NA NA NA NA NA 6.605086e-12 FALSE NA ENSE00002399211_001 ENSE00002399211 001 5 149313458 149313627 - 35 90 45 C A 149313473 1767 155 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGTGAATGGACTTGACTC 149933894 149934064 149933909 149933910 149933910 downstr_intron 20 1.588235 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGTGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 145 23 1 1 1 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 0.001371742 0.9990003 0.9091552 NA 0.09084476 NA FALSE NA 0 0.125 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA CCC C,A 8.236e-06 5:149933910 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 intron_variant 0.311262 0.31565 0.08216 0.06567 0.5603299 0.122759 6.605086e-12 FALSE 1.23849e-05 ENSE00002399211_002 ENSE00002399211 002 5 149313458 149313627 - 35 90 45 G A 149313478 1768 150 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGTCAAGGGAATGGACTTGACTC 149933894 149934064 149933914 149933915 149933915 downstr_intron 15 1.441176 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGTCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 429 240 0.999808 1 0.999904 0.9980007 1 0.8196822 0.9986283 NA NA 0.1801258 0.001371742 0.9990003 0.9091552 NA 0.09074876 NA FALSE NA 0 0.297 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA GGC G,A 2.471e-05 5:149933915 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 intron_variant 0.252373 0.11707 0.00195 0.06567 0.6879725 0.122759 6.605086e-12 FALSE 7.39967e-05 ENSE00002399211_004 ENSE00002399211 004 5 149313458 149313627 - 35 90 45 A T 149313482 1770 146 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTAGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933918 149933919 149933919 downstr_intron 11 1.323529 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTAGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 65 13 1 1 1 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 0.001371742 0.9990003 0.9091552 NA 0.09084476 NA FALSE NA 0.003 0.733 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA CAA A,T 2.471e-05 5:149933919 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 intron_variant 1.064743 0.24591 0.07483 0.06567 0.7977819 0.26688 6.605086e-12 FALSE 2.04718e-05 ENSE00002399211_005 ENSE00002399211 005 5 149313458 149313627 - 35 90 45 C T 149313488 1771 140 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAAGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933924 149933925 149933925 downstr_intron 5 1.147059 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAAGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 105 117 1 0.9918017 0.9959008 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 -0.006826567 0.9990003 0.9091552 NA 0.08674561 NA FALSE NA 0.59 0.898 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 rs369249828 1 NA T:0 T:0.0002 CCT C,T 1.647e-05 5:149933925 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 splice_region_variant 2.24448 0.98908 0.3448 0.06567 0.9693668 0.869721 6.605086e-12 FALSE 4.49651e-05 ENSE00002399211_007 ENSE00002399211 007 5 149313458 149313627 - 35 90 45 C T 149313497 1773 131 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGACCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933933 149933934 149933934 exon -5 0.9555556 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGACCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 84 224 1 1 1 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 0.001371742 0.9990003 0.9091552 NA 0.09084476 NA FALSE NA 1 7.094 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 rs572067661 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCC C,T 1.647e-05 5:149933934 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 3.903061 0.99484 0.99405 0.446893 0.9977657 0 6.605086e-12 FALSE 1.63167e-05 ENSE00002399211_008 ENSE00002399211 008 5 149313458 149313627 - 35 90 45 C T 149313500 1774 128 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACATGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933936 149933937 149933937 exon -8 0.9222222 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACATGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 227 81 0.994431 0.9915912 0.9930111 0.9980007 1 0.8196822 0.9986283 NA NA 0.1747488 -0.007037009 0.9990003 0.9091552 NA 0.0838559 NA FALSE NA 1 3.438 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA ACG C,T 3.295e-05 5:149933937 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 5.954879 0.9563 0.92637 0.446893 0.9994208 0 6.605086e-12 FALSE 7.33466e-05 ENSE00002399211_009 ENSE00002399211 009 5 149313458 149313627 - 35 90 45 G A 149313501 1775 127 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGATGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933937 149933938 149933938 exon -9 0.9111111 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGATGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 231 78 1 1 1 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 0.001371742 0.9990003 0.9091552 NA 0.09084476 NA FALSE NA 0.999 3.309 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 COSM1064216 1 NA CGT G,A 4.942e-05 5:149933938 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 6.014837 0.95438 0.95126 0.446893 0.9993383 0 6.605086e-12 FALSE 3.66688e-05 ENSE00002399211_010 ENSE00002399211 010 5 149313458 149313627 - 35 90 45 C A 149313503 1776 125 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCTACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933939 149933940 149933940 exon -11 0.8888889 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCTACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 481 411 1 0.999615 0.9998075 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 0.0009867486 0.9990003 0.9091552 NA 0.09065227 NA FALSE NA 1 7.094 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149933940 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 6.058098 0.9945 0.99442 0.446893 0.9984298 0 6.605086e-12 FALSE 2.44359e-05 ENSE00002399211_011 ENSE00002399211 011 5 149313458 149313627 - 35 90 45 C T 149313503 1777 125 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCAACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933939 149933940 149933940 exon -11 0.8888889 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCAACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 1604 770 0.9959859 0.9981946 0.9970902 0.9980007 1 0.8196822 0.9986283 NA NA 0.1763036 -0.0004336375 0.9990003 0.9091552 NA 0.087935 NA FALSE NA 1 7.094 NA NA NA AC008427.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003621465 missense_variant 6.110659 0.99428 0.99393 0.446893 0.9994567 0 6.605086e-12 FALSE 8.14531e-06 ENSE00002399211_012 ENSE00002399211 012 5 149313458 149313627 - 35 90 45 A G 149313511 1778 117 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGCGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933947 149933948 149933948 exon -19 0.8 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGCGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 320 135 1 1 1 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 0.001371742 0.9990003 0.9091552 NA 0.09084476 NA FALSE NA 1 1.666 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 rs200395835 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAC A,G 8.236e-06 5:149933948 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 synonymous_variant 0.125671 0.97062 0.83777 0.446893 0.7188617 0 6.605086e-12 FALSE 8.1357e-06 ENSE00002399211_013 ENSE00002399211 013 5 149313458 149313627 - 35 90 45 T C 149313516 1779 112 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACGACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933952 149933953 149933953 exon -24 0.7444444 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACGACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 89 921 1 0.9982051 0.9991026 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 -0.0004231237 0.9990003 0.9091552 NA 0.08994733 NA FALSE NA 1 5.585 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA TTG T,C 1.647e-05 5:149933953 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 2.034749 0.98803 0.97301 0.446893 0.9949574 0 6.605086e-12 FALSE 4.06626e-06 ENSE00002399211_014 ENSE00002399211 014 5 149313458 149313627 - 35 90 45 G A 149313532 1780 96 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCATCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933968 149933969 149933969 exon -40 0.5666667 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCATCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 664 308 0.999938 0.9946357 0.9972869 0.9980007 1 0.8196822 0.9986283 NA NA 0.1802558 -0.003992531 0.9990003 0.9091552 NA 0.08813163 NA FALSE NA 1 0.702 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA GGT G,A 8.236e-06 5:149933969 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 synonymous_variant 0.918276 0.97075 0.75705 0.446893 0.7638308 0 6.605086e-12 FALSE 4.06445e-06 ENSE00002399211_015 ENSE00002399211 015 5 149313458 149313627 - 35 90 45 G C 149313534 1781 94 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACGACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933970 149933971 149933971 exon -42 0.5444444 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACGACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 602 69 0.9644182 1 0.9822091 0.9980007 1 0.8196822 0.9986283 NA NA 0.144736 0.001371742 0.9990003 0.9091552 NA 0.07305388 NA FALSE NA 1 7.334 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA TGG G,C 8.236e-06 5:149933971 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 4.212495 0.9919 0.99092 0.446893 0.9939816 0 6.605086e-12 FALSE NA ENSE00002399211_016 ENSE00002399211 016 5 149313458 149313627 - 35 90 45 C G 149313540 1782 88 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGCTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933976 149933977 149933977 exon 43 0.4777778 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGCTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 354 1775 0.998949 0.9999786 0.9994638 0.9980007 1 0.8196822 0.9986283 NA NA 0.1792668 0.001350298 0.9990003 0.9091552 NA 0.09030854 NA FALSE NA 0.979 1.429 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:149933977 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 1.801809 0.98522 0.92269 0.446893 0.5749143 0 6.605086e-12 FALSE 4.06501e-06 ENSE00002399211_017 ENSE00002399211 017 5 149313458 149313627 - 35 90 45 C T 149313540 1783 88 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGATGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933976 149933977 149933977 exon 43 0.4777778 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGATGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 448 173 0.9990778 1 0.9995389 0.9980007 1 0.8196822 0.9986283 NA NA 0.1793955 0.001371742 0.9990003 0.9091552 NA 0.09038364 NA FALSE NA 0.979 1.429 NA NA NA AC008427.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003621465 missense_variant 2.770889 0.98227 0.7872 0.446893 0.9623093 0 6.605086e-12 FALSE 1.2195e-05 ENSE00002399211_019 ENSE00002399211 019 5 149313458 149313627 - 35 90 45 C T 149313558 1785 70 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTACAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149933994 149933995 149933995 exon 25 0.2777778 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTACAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 269 23 0.9994298 1 0.9997149 0.9980007 1 0.8196822 0.9986283 NA NA 0.1797476 0.001371742 0.9990003 0.9091552 NA 0.09055969 NA FALSE NA 1 7.235 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA GCA C,T 8.236e-06 5:149933995 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 3.869266 0.99095 0.99255 0.446893 0.9988532 0 6.605086e-12 FALSE NA ENSE00002399211_021 ENSE00002399211 021 5 149313458 149313627 - 35 90 45 A G 149313581 1787 47 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGACTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149934017 149934018 149934018 exon 2 0.02222222 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGACTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 233 420 1 1 1 0.9980007 1 0.8196822 0.9986283 NA NA 0.1803178 0.001371742 0.9990003 0.9091552 NA 0.09084476 NA FALSE NA 1 3.734 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA AAT A,G 8.237e-06 5:149934018 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 missense_variant 2.667935 0.98147 0.94588 0.446893 0.9855986 0 6.605086e-12 FALSE NA ENSE00002399211_023 ENSE00002399211 023 5 149313458 149313627 - 35 90 45 A C 149313587 1789 41 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTGTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149934023 149934024 149934024 upstr_intron -5 -0.08888889 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTGTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 211 196 0.9970371 0.9801269 0.988582 0.9980007 1 0.8196822 0.9986283 NA NA 0.1773549 -0.0185014 0.9990003 0.9091552 NA 0.07942677 NA FALSE NA 0.991 3.221 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA AAA A,C 3.295e-05 5:149934024 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 splice_region_variant 1.02506 0.96593 0.96674 0.06567 0.9202329 0.815802 6.605086e-12 FALSE 7.37747e-05 ENSE00002399211_024 ENSE00002399211 024 5 149313458 149313627 - 35 90 45 A G 149313596 1790 32 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCCGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149934032 149934033 149934033 upstr_intron -14 -0.2888889 ATTTCTTCTTCTCACCTGCCTCCCCTCATGCCGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 157 205 0.993257 1 0.9966285 0.9980007 1 0.8196822 0.9986283 NA NA 0.1735747 0.001371742 0.9990003 0.9091552 NA 0.08747324 NA FALSE NA 0.006 1.49 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA CAG A,G 8.237e-06 5:149934033 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 intron_variant 0.99716 0.22647 0.08107 0.06567 0.8259021 0.235093 6.605086e-12 FALSE 1.24112e-05 ENSE00002399211_026 ENSE00002399211 026 5 149313458 149313627 - 35 90 45 T A 149313600 1792 28 ATTTCTTCTTCTCACCTGCCTCCCCTCTTGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149934036 149934037 149934037 upstr_intron -18 -0.3777778 ATTTCTTCTTCTCACCTGCCTCCCCTCTTGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 522 411 0.9964583 0.9997217 0.99809 0.9980007 1 0.8196822 0.9986283 NA NA 0.176776 0.001093471 0.9990003 0.9091552 NA 0.08893476 NA FALSE NA 0 -1.949 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 rs376497334 1 NA A:0 A:0.0001 ATG T,A 2.471e-05 5:149934037 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 intron_variant 0.109485 0.13013 0.01229 0.06567 0.4393119 0.112073 6.605086e-12 FALSE 2.08306e-05 ENSE00002399211_027 ENSE00002399211 027 5 149313458 149313627 - 35 90 45 A G 149313602 1793 26 ATTTCTTCTTCTCACCTGCCTCCCCCCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 149934038 149934039 149934039 upstr_intron -20 -0.4222222 ATTTCTTCTTCTCACCTGCCTCCCCCCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC mutant NA NA NA NA NA 43 457 0.9854284 1 0.9927142 0.9980007 1 0.8196822 0.9986283 NA NA 0.1657462 0.001371742 0.9990003 0.9091552 NA 0.08355897 NA FALSE NA 0 -0.071 . upstream_gene_variant MODIFIER AC008427.2 Clone_based_vega_gene NA ENST00000503102 1 NA GAG A,G 3.295e-05 5:149934039 PDE6A HGNC Symbol protein_coding 86838 ENSG00000132915 ENSE00003621465 intron_variant -0.093818 0.21344 0.01838 0.06567 0.4131574 0.112073 6.605086e-12 FALSE NA ENSE00002399211_BRK ENSE00002399211 BRK 5 149313458 149313627 - 35 90 45 A,G; T,T NA NA NA ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTTTATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGCCAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC 149933894 149934064 NA NA NA NA NA NA ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTTTATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGCCAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC ATTTCTTCTTCTCACCTGCCTCCCCTCATGCTGTTTGATTTTTAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTAATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGGTAAGGGGCTTGGGCCAAGGGAATGGACTTGACTC control NA NA NA NA NA 319 221 0 0 0 0.9980007 1 0.8196822 0.9986283 NA NA -0.8196822 -0.9986283 0.9990003 0.9091552 NA -0.9091552 NA TRUE NA NA NA NA NA NA AC008427.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE6A NA NA NA ENSG00000132915 ENSE00003621465 NA NA NA NA NA NA NA 6.605086e-12 FALSE NA ENSE00002399361_000 ENSE00002399361 000 3 131388484 131388653 - 35 90 45 NA NA NA NA NA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA 131669639 131669809 NA NA NA NA NA NA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA natural 54 41 0.9962725 0.9989663 0.9976194 540 1349 0.7601569 0.9321745 0.8461657 0.9962725 0.9989663 0.7601569 0.9321745 0 0 0 0 0.9976194 0.8461657 0 0 0 FALSE FALSE NA NA NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003570701 NA NA NA NA NA NA NA 0.7751393 FALSE NA ENSE00002399361_002 ENSE00002399361 002 3 131388484 131388653 - 35 90 45 T G 131388497 2959 157 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGACATGTGATTTTTTA 131669639 131669809 131669652 131669653 131669653 downstr_intron 22 1.647059 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGACATGTGATTTTTTA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA mutant NA NA NA NA NA 11 249 1 1 1 0.9962725 0.9989663 0.7601569 0.9321745 NA NA 0.2398431 0.06782554 0.9976194 0.8461657 NA 0.1538343 NA FALSE NA 0 0.525 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 8/16 rs535847553 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TTT T,G 8.238e-06 3:131669653 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003570701 intron_variant 0.296423 0.20661 0.16862 0.070013 0.5845991 0.119696 0.7751393 FALSE 1.32509e-05 ENSE00002399361_004 ENSE00002399361 004 3 131388484 131388653 - 35 90 45 A G 131388504 2961 150 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGCCCAAGAAATGTGATTTTTTA 131669639 131669809 131669659 131669660 131669660 downstr_intron 15 1.441176 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGCCCAAGAAATGTGATTTTTTA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA mutant NA NA NA NA NA 151 35 1 1 1 0.9962725 0.9989663 0.7601569 0.9321745 NA NA 0.2398431 0.06782554 0.9976194 0.8461657 NA 0.1538343 NA FALSE NA 0.002 0.639 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 8/16 rs199736793 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 GAC A,G 2.471e-05 3:131669660 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003570701 intron_variant 0.545288 0.2539 0.02675 0.070013 0.7080135 0.153832 0.7751393 FALSE 2.5919e-05 ENSE00002399361_009 ENSE00002399361 009 3 131388484 131388653 - 35 90 45 G A 131388531 2966 123 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGATCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA 131669639 131669809 131669686 131669687 131669687 exon -13 0.8666667 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGATCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA mutant NA NA NA NA NA 14 30 1 1 1 0.9962725 0.9989663 0.7601569 0.9321745 NA NA 0.2398431 0.06782554 0.9976194 0.8461657 NA 0.1538343 NA FALSE NA 1 0.525 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 8/17 1 NA GGT G,A 2.471e-05 3:131669687 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003570701 synonymous_variant 1.19704 0.96682 0.72192 0 0.6472543 0 0.7751393 FALSE 2.45112e-05 ENSE00002399361_010 ENSE00002399361 010 3 131388484 131388653 - 35 90 45 C T 131388542 2967 112 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCAGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA 131669639 131669809 131669697 131669698 131669698 exon -24 0.7444444 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCAGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA mutant NA NA NA NA NA 110 161 1 1 1 0.9962725 0.9989663 0.7601569 0.9321745 NA NA 0.2398431 0.06782554 0.9976194 0.8461657 NA 0.1538343 NA FALSE NA 1 5.718 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 8/17 rs372564382 1 deleterious(0.02) benign(0.384) NA T:0 T:0.0001 CCG C,T 1.647e-05 3:131669698 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003570701 missense_variant 7.079067 0.98617 0.93165 0.487112 0.9992568 0 0.7751393 FALSE 8.14001e-06 ENSE00002399361_019 ENSE00002399361 019 3 131388484 131388653 - 35 90 45 C T 131388584 2976 70 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAACCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA 131669639 131669809 131669739 131669740 131669740 exon 25 0.2777778 CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAACCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA mutant NA NA NA NA NA 141 10 1 1 1 0.9962725 0.9989663 0.7601569 0.9321745 NA NA 0.2398431 0.06782554 0.9976194 0.8461657 NA 0.1538343 NA FALSE NA 1 3.99 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 8/17 1 tolerated(0.62) benign(0.058) NA GCT C,T 1.647e-05 3:131669740 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003570701 missense_variant 3.619636 0.98585 0.90494 0.713056 0.9827196 0 0.7751393 FALSE 8.13623e-06 ENSE00002399361_026 ENSE00002399361 026 3 131388484 131388653 - 35 90 45 G A 131388642 2983 12 CAAGCATTTCTTCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA 131669639 131669809 131669797 131669798 131669798 upstr_intron -34 -0.7333333 CAAGCATTTCTTCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA mutant NA NA NA NA NA 50 146 1 1 1 0.9962725 0.9989663 0.7601569 0.9321745 NA NA 0.2398431 0.06782554 0.9976194 0.8461657 NA 0.1538343 NA FALSE NA 0.146 2.131 rs73218422 intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 7/16 rs73218422 1 A:0.0373 A:0.0015 A:0.0173 NA A:0.0893 A:0.0258 A:0.0583 A:0.0077 A:0.0409 GGA G,A 0.041 3:131669798 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003570701 intron_variant 0.969161 0.20967 0.00911 0.126639 0.6871773 0.331113 0.7751393 FALSE 0.0403105 ENSE00002399361_BRK ENSE00002399361 BRK 3 131388484 131388653 - 35 90 45 A,G; T,T NA NA NA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCTTGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGCCCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA 131669639 131669809 NA NA NA NA NA NA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCTTGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGCCCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA CAAGCATTTCTCCCCCACTCACCACTCCTCTCTTTCTTTTCCCAGGTTGTGATGAATAACTTAAGCCCAGCCTGGAAATCATTCAAAGTATCTGTAAATTCTCTATGCAGCGGAGACCCAGACCGCCGGCTAAAGGTCAGAAATCTGTGTCCAAGAAATGTGATTTTTTA control 119 57 0 0 0 25 60 0 0 0 0.9962725 0.9989663 0.7601569 0.9321745 -0.9962725 -0.9989663 -0.7601569 -0.9321745 0.9976194 0.8461657 -0.9976194 -0.8461657 0.1514537 TRUE TRUE NA NA NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003570701 NA NA NA NA NA NA NA 0.7751393 FALSE NA ENSE00002399430_000 ENSE00002399430 000 3 184766217 184766386 + 50 81 39 NA NA NA NA NA GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 NA NA NA NA NA NA GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT natural 63 121 0.9958059 0.9885038 0.9921548 10290 7309 0.9597357 0.8192133 0.8894745 0.9958059 0.9885038 0.9597357 0.8192133 0 0 0 0 0.9921548 0.8894745 0 0 0 FALSE FALSE NA NA NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS8 NA NA NA ENSG00000156931 ENSE00003611923 NA NA NA NA NA NA NA 3.618198e-06 FALSE NA ENSE00002399430_001 ENSE00002399430 001 3 184766217 184766386 + 50 81 39 C T 184766230 3944 14 GGCTGCCTAGCCATGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048441 185048442 185048442 upstr_intron -37 -0.72 GGCTGCCTAGCCATGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 1877 1471 0.9951602 0.9970998 0.99613 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.03542449 0.1778865 0.9921548 0.8894745 NA 0.1066555 NA FALSE NA 0 -1.492 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/26 1 NA ACG C,T 0.0004302 3:185048442 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant 0.254705 0.16268 0.02654 0.062308 0.7883576 0.0526402 3.618198e-06 FALSE 0.000574539 ENSE00002399430_002 ENSE00002399430 002 3 184766217 184766386 + 50 81 39 G A 184766231 3945 15 GGCTGCCTAGCCACATGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048442 185048443 185048443 upstr_intron -36 -0.7 GGCTGCCTAGCCACATGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 3086 2391 0.9969742 0.9984714 0.9977228 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.0372385 0.1792581 0.9921548 0.8894745 NA 0.1082483 NA FALSE NA 0 -0.967 rs142922701 intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/26 rs142922701 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0 A:0.0001 CGT G,A 8.274e-05 3:185048443 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant -0.136008 0.09167 0.00351 0.062308 0.8188671 0.0526402 3.618198e-06 FALSE 6.52039e-05 ENSE00002399430_003 ENSE00002399430 003 3 184766217 184766386 + 50 81 39 A C 184766242 3946 26 GGCTGCCTAGCCACGTGATGTTGTTCATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048453 185048454 185048454 upstr_intron -25 -0.48 GGCTGCCTAGCCACGTGATGTTGTTCATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 922 1008 0.7959195 0.9932466 0.894583 0.9958059 0.9885038 0.9597357 0.8192133 NA NA -0.1638163 0.1740333 0.9921548 0.8894745 NA 0.005108522 NA FALSE NA 0.002 -0.622 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/26 1 NA TAA A,C 8.276e-06 3:185048454 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant 0.133877 0.1768 0.0491 0.162113 0.5813848 0.0526402 3.618198e-06 FALSE 4.06673e-06 ENSE00002399430_004 ENSE00002399430 004 3 184766217 184766386 + 50 81 39 C T 184766245 3947 29 GGCTGCCTAGCCACGTGATGTTGTTAATTGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048456 185048457 185048457 upstr_intron -22 -0.42 GGCTGCCTAGCCACGTGATGTTGTTAATTGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 765 972 0.9937671 0.9996352 0.9967011 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.03403137 0.1804219 0.9921548 0.8894745 NA 0.1072266 NA FALSE NA 0 0.283 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 25/26 1 NA TCG C,T 8.276e-06 3:185048457 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant 0.367346 0.1902 0.04127 0.162113 0.7405141 0.0526402 3.618198e-06 FALSE 8.13279e-06 ENSE00002399430_005 ENSE00002399430 005 3 184766217 184766386 + 50 81 39 G A 184766246 3948 30 GGCTGCCTAGCCACGTGATGTTGTTAATCATATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048457 185048458 185048458 upstr_intron -21 -0.4 GGCTGCCTAGCCACGTGATGTTGTTAATCATATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 2092 812 0.9796678 0.9294445 0.9545562 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.01993211 0.1102312 0.9921548 0.8894745 NA 0.06508167 NA FALSE NA 0 -1.005 NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:185048458 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant 0.043541 0.15269 0.03611 0.162113 0.7813048 0.0526402 3.618198e-06 FALSE 0.000317145 ENSE00002399430_008 ENSE00002399430 008 3 184766217 184766386 + 50 81 39 A T 184766265 3951 49 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCTGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048476 185048477 185048477 upstr_intron -2 -0.02 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCTGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 39 144 0.905603 0.940839 0.923221 0.9958059 0.9885038 0.9597357 0.8192133 NA NA -0.05413269 0.1216258 0.9921548 0.8894745 NA 0.03374653 NA FALSE NA 1 5.294 . splice_acceptor_variant&non_coding_transcript_variant HIGH VPS8 HGNC 29122 ENST00000492449 25/26 rs368571926 1 NA T:0 T:0.0001 CAG A,T 8.278e-06 3:185048477 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 splice_acceptor_variant 3.579218 0.98553 0.94587 0.162113 0.9859755 0.951273 3.618198e-06 FALSE 4.06246e-06 ENSE00002399430_009 ENSE00002399430 009 3 184766217 184766386 + 50 81 39 G A 184766268 3952 52 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGAAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048479 185048480 185048480 exon 2 0.02469136 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGAAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 5520 1051 0.9989408 0.9889537 0.9939473 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.03920509 0.1697404 0.9921548 0.8894745 NA 0.1044728 NA FALSE NA 0.063 0.601 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW VPS8 HGNC 29122 ENST00000492449 26/27 1 NA GGA G,A 8.278e-06 3:185048480 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 missense_variant -1.189319 0.41982 0.07282 0.706298 0.2781765 0 3.618198e-06 FALSE 8.12546e-06 ENSE00002399430_010 ENSE00002399430 010 3 184766217 184766386 + 50 81 39 A C 184766269 3953 53 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGCACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048480 185048481 185048481 exon 3 0.03703704 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGCACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 940 269 0.9997931 0.9930611 0.9964271 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.04005741 0.1738478 0.9921548 0.8894745 NA 0.1069526 NA FALSE NA 0.031 0.593 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW VPS8 HGNC 29122 ENST00000492449 26/27 rs371967750 1 NA C:0.0003 C:0 GAA A,C 8.278e-06 3:185048481 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 splice_region_variant -0.567953 0.26279 0.0533 0.706298 0.5602807 0 3.618198e-06 FALSE 4.06243e-06 ENSE00002399430_011 ENSE00002399430 011 3 184766217 184766386 + 50 81 39 C T 184766272 3954 56 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACTTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048483 185048484 185048484 exon 6 0.07407407 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACTTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 1404 3109 0.9985448 0.9955364 0.9970406 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.03880913 0.1763232 0.9921548 0.8894745 NA 0.1075661 NA FALSE NA 0.261 0.071 rs116050607 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/27 rs116050607 1 T:0.0014 T:0.0053 T:0 NA T:0 T:0 T:0 T:0.004 T:0 CCT C,T 0.0003311 3:185048484 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 synonymous_variant 0.734026 0.19297 0.03417 0.706298 0.4592965 0 3.618198e-06 FALSE 0.000284317 ENSE00002399430_012 ENSE00002399430 012 3 184766217 184766386 + 50 81 39 C T 184766279 3955 63 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAATCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048490 185048491 185048491 exon 13 0.1604938 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAATCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 899 1217 0.9906108 0.9970391 0.993825 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.03087515 0.1778258 0.9921548 0.8894745 NA 0.1043505 NA FALSE NA 1 2.891 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/27 1 NA ACC C,T 1.656e-05 3:185048491 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 missense_variant 2.077323 0.98008 0.75706 0.706298 0.992412 0 3.618198e-06 FALSE 8.12288e-06 ENSE00002399430_013 ENSE00002399430 013 3 184766217 184766386 + 50 81 39 A G 184766289 3956 73 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGGTCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048500 185048501 185048501 exon 23 0.2839506 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGGTCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 1021 106 0.853978 0.9109919 0.8824849 0.9958059 0.9885038 0.9597357 0.8192133 NA NA -0.1057577 0.09177859 0.9921548 0.8894745 NA -0.006989571 NA FALSE NA 1 5.294 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/27 rs369238736 1 NA G:0.0003 G:0 GAT A,G 8.278e-06 3:185048501 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 missense_variant 5.334886 0.98596 0.94604 0.706298 0.9986173 0 3.618198e-06 FALSE 4.06124e-06 ENSE00002399430_014 ENSE00002399430 014 3 184766217 184766386 + 50 81 39 C T 184766292 3957 76 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCTACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048503 185048504 185048504 exon 26 0.3209877 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCTACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 433 2169 0.9970159 0.9980863 0.9975511 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.03728019 0.178873 0.9921548 0.8894745 NA 0.1080766 NA FALSE NA 1 2.941 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/27 1 NA CCA C,T 8.278e-06 3:185048504 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 missense_variant 3.646821 0.98794 0.89083 0.706298 0.9937304 0 3.618198e-06 FALSE 4.06141e-06 ENSE00002399430_015 ENSE00002399430 015 3 184766217 184766386 + 50 81 39 T C 184766301 3958 85 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAACCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048512 185048513 185048513 exon 35 0.4320988 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAACCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 642 1407 1 0.9873948 0.9936974 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.0402643 0.1681815 0.9921548 0.8894745 NA 0.1042229 NA FALSE NA 1 1.538 rs3821750 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/27 rs3821750&COSM3759913&COSM3759914 1 C:0.1865 C:0.4062 C:0.1398 NA C:0.0536 C:0.1421 C:0.1053 C:0.3623 C:0.1513 ATC T,C 0.144 3:185048513 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 missense_variant 1.478544 0.97129 0.75717 0.706298 0.9827295 0 3.618198e-06 FALSE 0.139479 ENSE00002399430_016 ENSE00002399430 016 3 184766217 184766386 + 50 81 39 A G 184766308 3959 92 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCGTTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048519 185048520 185048520 exon -40 0.5185185 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCGTTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 791 999 0.9974186 0.997034 0.9972263 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.0376829 0.1778207 0.9921548 0.8894745 NA 0.1077518 NA FALSE NA 0.002 -3.021 NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:185048520 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 synonymous_variant 1.368049 0.55667 0.02766 0.706298 0.5440957 0 3.618198e-06 FALSE 4.06128e-06 ENSE00002399430_018 ENSE00002399430 018 3 184766217 184766386 + 50 81 39 T C 184766314 3961 98 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGACCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048525 185048526 185048526 exon -34 0.5925926 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGACCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 1548 315 0.9987106 0.9994976 0.9991041 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.03897489 0.1802843 0.9921548 0.8894745 NA 0.1096296 NA FALSE NA 0.985 -0.001 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/27 1 NA ATC T,C 8.278e-06 3:185048526 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 synonymous_variant 0.43199 0.96285 0.46528 0.706298 0.5579377 0 3.618198e-06 FALSE 4.06134e-06 ENSE00002399430_019 ENSE00002399430 019 3 184766217 184766386 + 50 81 39 G A 184766325 3962 109 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCATCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048536 185048537 185048537 exon -23 0.7283951 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCATCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 1488 1355 0.9455344 0.9996905 0.9726124 0.9958059 0.9885038 0.9597357 0.8192133 NA NA -0.01420129 0.1804772 0.9921548 0.8894745 NA 0.08313794 NA FALSE NA 0.769 0.587 rs16859527 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/27 rs16859527 1 A:0.0116 A:0 A:0 NA A:0.0565 A:0 A:0.001 CGT G,A 0.002641 3:185048537 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 missense_variant 4.91356 0.75248 0.33101 0.706298 0.9925382 0 3.618198e-06 FALSE 0.003087 ENSE00002399430_021 ENSE00002399430 021 3 184766217 184766386 + 50 81 39 A T 184766339 3964 123 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGATGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048550 185048551 185048551 exon -9 0.9012346 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGATGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 1463 335 0.999266 0.9963889 0.9978274 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.03953028 0.1771756 0.9921548 0.8894745 NA 0.1083529 NA FALSE NA 1 1.996 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/27 rs199635532 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 AAG A,T 8.278e-06 3:185048551 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 missense_variant 3.8464 0.96634 0.77169 0.706298 0.9924949 0 3.618198e-06 FALSE NA ENSE00002399430_022 ENSE00002399430 022 3 184766217 184766386 + 50 81 39 G T 184766347 3965 131 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGTGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048558 185048559 185048559 exon -1 1 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGTGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 363 307 0.9809916 0.9925402 0.9867659 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.02125587 0.1733269 0.9921548 0.8894745 NA 0.09729138 NA FALSE NA 1 3.977 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW VPS8 HGNC 29122 ENST00000492449 26/27 1 NA GGG G,T 8.278e-06 3:185048559 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 missense_variant 6.866581 0.98855 0.93804 0.706298 0.9981142 0 3.618198e-06 FALSE 4.06329e-06 ENSE00002399430_023 ENSE00002399430 023 3 184766217 184766386 + 50 81 39 G A 184766359 3966 143 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCATGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048570 185048571 185048571 downstr_intron 12 1.315789 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCATGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 2150 933 1 0.999714 0.999857 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.0402643 0.1805007 0.9921548 0.8894745 NA 0.1103825 NA FALSE NA 0 -0.614 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/26 rs539672543 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGT G,A 4.967e-05 3:185048571 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant -0.032985 0.20554 0.04155 0.062308 0.4951691 0.119392 3.618198e-06 FALSE 4.4742e-05 ENSE00002399430_024 ENSE00002399430 024 3 184766217 184766386 + 50 81 39 G A 184766361 3967 145 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTAGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 185048572 185048573 185048573 downstr_intron 14 1.368421 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTAGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 839 1318 1 0.996458 0.998229 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.0402643 0.1772447 0.9921548 0.8894745 NA 0.1087545 NA FALSE NA 0 -0.052 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/26 rs371852946 1 NA A:0 A:0.0001 TGG G,A 8.278e-06 3:185048573 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant 0.049218 0.21675 0.07749 0.062308 0.4849902 0.119392 3.618198e-06 FALSE 4.06914e-06 ENSE00002399430_025 ENSE00002399430 025 3 184766217 184766386 + 50 81 39 A C 184766369 3968 153 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTCTATTTTTATTTCCCTAT 185048428 185048598 185048580 185048581 185048581 downstr_intron 22 1.578947 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTCTATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 1477 634 0.9719637 1 0.9859818 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.01222796 0.1807867 0.9921548 0.8894745 NA 0.09650733 NA FALSE NA 0 0.133 NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:185048581 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant 0.093272 0.20387 0.08681 0.062308 0.5736827 0.120375 3.618198e-06 FALSE 3.66727e-05 ENSE00002399430_027 ENSE00002399430 027 3 184766217 184766386 + 50 81 39 A G 184766371 3970 155 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATGTTTTTATTTCCCTAT 185048428 185048598 185048582 185048583 185048583 downstr_intron 24 1.631579 GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATGTTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT mutant NA NA NA NA NA 318 522 1 1 1 0.9958059 0.9885038 0.9597357 0.8192133 NA NA 0.0402643 0.1807867 0.9921548 0.8894745 NA 0.1105255 NA FALSE NA 0 -0.217 . intron_variant&non_coding_transcript_variant MODIFIER VPS8 HGNC 29122 ENST00000492449 26/26 rs375662439 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TAT A,G 4.966e-05 3:185048583 VPS8 HGNC Symbol protein_coding 240471 ENSG00000156931 ENSE00003611923 intron_variant 0.252568 0.17407 0.03821 0.062308 0.4843654 0.120375 3.618198e-06 FALSE 3.26155e-05 ENSE00002399430_BRK ENSE00002399430 BRK 3 184766217 184766386 + 50 81 39 A,G; T,T NA NA NA GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCTTGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGCCAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT 185048428 185048598 NA NA NA NA NA NA GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCTTGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGCCAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT GGCTGCCTAGCCACGTGATGTTGTTAATCGTATCGGTTTTTATTTTTCAGGGAACCTCAGAACCTGTTCTGGATCCACAGCAAATCCAAGCATTTGATCAGCTTTGCCGTCTCTACCGAGGAAGCTCCAGGGTAATGTTTGCGTGGTTGTTTATATTTTTATTTCCCTAT control 386 469 0 0 0 NA NA NA NA NA 0.9958059 0.9885038 0.9597357 0.8192133 -0.9958059 -0.9885038 NA NA 0.9921548 0.8894745 -0.9921548 NA NA NA TRUE NA NA NA NA NA VPS8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA VPS8 NA NA NA ENSG00000156931 ENSE00003611923 NA NA NA NA NA NA NA 3.618198e-06 FALSE NA ENSE00002399797_000 ENSE00002399797 000 5 154170148 154170317 + 57 66 47 NA NA NA NA NA GTATGTCAAGAGACTTCAAACCTGCCTATTCTTCCACACAGACTCACCTGAACACTCTTGTGGGCTATCTCTCCAGGTGTGGGCCAATTGATTGCATCTCCAAAGTCACCAACCTGCAGGGAACATACACTATGAGGGCCCCAGGAGTGACCCTGTCTTTGCTATTCAGC 154790587 154790757 NA NA NA NA NA NA GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC natural 264 302 0.859861 0.8623592 0.8611101 1865 1298 0.916716 0.9707199 0.9437179 0.859861 0.8623592 0.916716 0.9707199 0 0 0 0 0.8611101 0.9437179 0 0 0 FALSE FALSE NA NA NA NA NA LARP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA LARP1 NA NA NA ENSG00000155506 ENSE00003504224 NA NA NA NA NA NA NA 0.9999522 TRUE NA ENSE00002399797_003 ENSE00002399797 003 5 154170148 154170317 + 57 66 47 C T 154170169 2047 22 GCTGAATAGCAAAGACAGGGTTACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC 154790587 154790757 154790608 154790609 154790609 upstr_intron -36 -0.6140351 GCTGAATAGCAAAGACAGGGTTACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC mutant NA NA NA NA NA 1558 650 0.9465629 0.9189195 0.9327412 0.859861 0.8623592 0.916716 0.9707199 NA NA 0.02984691 -0.05180037 0.8611101 0.9437179 NA -0.01097673 NA FALSE NA 0 -0.066 . upstream_gene_variant MODIFIER LARP1 HGNC 29531 ENST00000518742 1 NA TCA C,T 8.236e-06 5:154790609 LARP1 HGNC Symbol protein_coding 104705 ENSG00000155506 ENSE00003504224 intron_variant 0.381961 0.17435 0.08193 0.139865 0.5887746 0.121226 0.9999522 TRUE 4.06686e-06 ENSE00002399797_006 ENSE00002399797 006 5 154170148 154170317 + 57 66 47 A T 154170192 2050 45 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTTTGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC 154790587 154790757 154790631 154790632 154790632 upstr_intron -13 -0.2105263 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTTTGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC mutant NA NA NA NA NA 310 119 0.8367739 0.9983848 0.9175793 0.859861 0.8623592 0.916716 0.9707199 NA NA -0.07994214 0.02766492 0.8611101 0.9437179 NA -0.02613861 NA FALSE NA 0.699 2.142 . upstream_gene_variant MODIFIER LARP1 HGNC 29531 ENST00000518742 1 NA TAT A,T 8.236e-06 5:154790632 LARP1 HGNC Symbol protein_coding 104705 ENSG00000155506 ENSE00003504224 intron_variant 2.063411 0.39654 0.40705 0.139865 0.8960491 0.398117 0.9999522 TRUE 4.06095e-06 ENSE00002399797_007 ENSE00002399797 007 5 154170148 154170317 + 57 66 47 A G 154170230 2051 83 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAGTTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC 154790587 154790757 154790669 154790670 154790670 exon 26 0.3939394 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAGTTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC mutant NA NA NA NA NA 182 224 0.9516591 0.9729748 0.962317 0.859861 0.8623592 0.916716 0.9707199 NA NA 0.03494312 0.002254959 0.8611101 0.9437179 NA 0.01859904 NA FALSE NA 1 5.821 . upstream_gene_variant MODIFIER LARP1 HGNC 29531 ENST00000518742 rs202094589 1 NA AAT A,G 4.942e-05 5:154790670 LARP1 HGNC Symbol protein_coding 104705 ENSG00000155506 ENSE00003504224 missense_variant 1.973295 0.98562 0.97796 0.722319 0.9960861 0 0.9999522 TRUE 5.685e-05 ENSE00002399797_008 ENSE00002399797 008 5 154170148 154170317 + 57 66 47 G A 154170247 2052 100 GTATGTCAAGAGACTTCAAACCTGCCTATTCTTCCACACAGACTCACCTGAACACTCTTGTGGGCTATCTTTCCAGGTGTGGGCCAATTGATTGCATCTCCAAAGTCACCAACCTGCAGGGAACATACACTATGAGGGCCCCAGGAGTGACCCTGTCTTTGCTATTCAGC 154790587 154790757 154790686 154790687 154790687 exon -24 0.6515152 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAAAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC mutant NA NA NA NA NA 612 186 0.9385998 0.9134714 0.9260356 0.859861 0.8623592 0.916716 0.9707199 NA NA 0.02188382 -0.0572485 0.8611101 0.9437179 NA -0.01768234 NA FALSE NA 1 9.345 . upstream_gene_variant MODIFIER LARP1 HGNC 29531 ENST00000518742 1 NA AGA G,A 8.236e-06 5:154790687 LARP1 HGNC Symbol protein_coding 104705 ENSG00000155506 ENSE00003504224 missense_variant 7.397901 0.99563 0.99576 0.722319 0.9994036 0 0.9999522 TRUE 4.06072e-06 ENSE00002399797_009 ENSE00002399797 009 5 154170148 154170317 + 57 66 47 T C 154170251 2053 104 GTATGTCAAGAGACTTCAAACCTGCCTATTCTTCCACACAGACTCACCTGAACACTCTTGTGGGCTGTCTCTCCAGGTGTGGGCCAATTGATTGCATCTCCAAAGTCACCAACCTGCAGGGAACATACACTATGAGGGCCCCAGGAGTGACCCTGTCTTTGCTATTCAGC 154790587 154790757 154790690 154790691 154790691 exon -20 0.7121212 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGACAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC mutant NA NA NA NA NA 352 21 1 1 1 0.859861 0.8623592 0.916716 0.9707199 NA NA 0.083284 0.02928015 0.8611101 0.9437179 NA 0.05628207 NA FALSE NA 1 7.623 . upstream_gene_variant MODIFIER LARP1 HGNC 29531 ENST00000518742 1 NA ATA T,C 8.236e-06 5:154790691 LARP1 HGNC Symbol protein_coding 104705 ENSG00000155506 ENSE00003504224 missense_variant 5.135353 0.99374 0.99259 0.722319 0.9903731 0 0.9999522 TRUE 4.06075e-06 ENSE00002399797_010 ENSE00002399797 010 5 154170148 154170317 + 57 66 47 A T 154170269 2054 122 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCTGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC 154790587 154790757 154790708 154790709 154790709 exon -2 0.9848485 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCTGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC mutant NA NA NA NA NA 119 952 0.990647 0.8372758 0.9139614 0.859861 0.8623592 0.916716 0.9707199 NA NA 0.07393096 -0.1334441 0.8611101 0.9437179 NA -0.02975656 NA FALSE NA 1 6.709 . upstream_gene_variant MODIFIER LARP1 HGNC 29531 ENST00000518742 1 NA CAG A,T 8.236e-06 5:154790709 LARP1 HGNC Symbol protein_coding 104705 ENSG00000155506 ENSE00003504224 missense_variant 4.521372 0.98897 0.99412 0.722319 0.9885383 0 0.9999522 TRUE 4.06091e-06 ENSE00002399797_011 ENSE00002399797 011 5 154170148 154170317 + 57 66 47 G A 154170292 2055 145 GTATGTCAAGAGACTTCAAACCTGCTTATTCTTCCACACAGACTCACCTGAACACTCTTGTGGGCTATCTCTCCAGGTGTGGGCCAATTGATTGCATCTCCAAAGTCACCAACCTGCAGGGAACATACACTATGAGGGCCCCAGGAGTGACCCTGTCTTTGCTATTCAGC 154790587 154790757 154790731 154790732 154790732 downstr_intron 22 1.478261 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAAGCAGGTTTGAAGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC mutant NA NA NA NA NA 151 392 1 1 1 0.859861 0.8623592 0.916716 0.9707199 NA NA 0.083284 0.02928015 0.8611101 0.9437179 NA 0.05628207 NA FALSE NA 0.285 0.878 . upstream_gene_variant MODIFIER LARP1 HGNC 29531 ENST00000518742 rs376054872 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 AGG G,A 0.0001153 5:154790732 LARP1 HGNC Symbol protein_coding 104705 ENSG00000155506 ENSE00003504224 intron_variant 0.399056 0.3384 0.24883 0.099367 0.5186001 0.0666035 0.9999522 TRUE 6.50184e-05 ENSE00002399797_012 ENSE00002399797 012 5 154170148 154170317 + 57 66 47 A C 154170303 2056 156 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGACGTCTCTTGACATAC 154790587 154790757 154790742 154790743 154790743 downstr_intron 33 1.717391 GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGACGTCTCTTGACATAC GCTGAATAGCAAAGACAGGGTCACTCCTGGGGCCCTCATAGTGTATGTTCCCTGCAGGTTGGTGACTTTGGAGATGCAATCAATTGGCCCACACCTGGAGAGATAGCCCACAAGAGTGTTCAGGTGAGTCTGTGTGGAAGAATAGGCAGGTTTGAAGTCTCTTGACATAC mutant NA NA NA NA NA 78 492 0.9918071 0.8431938 0.9175005 0.859861 0.8623592 0.916716 0.9707199 NA NA 0.07509114 -0.1275261 0.8611101 0.9437179 NA -0.02621747 NA FALSE NA 0 0.054 . upstream_gene_variant MODIFIER LARP1 HGNC 29531 ENST00000518742 1 NA AAG A,C 8.236e-06 5:154790743 LARP1 HGNC Symbol protein_coding 104705 ENSG00000155506 ENSE00003504224 intron_variant -0.015686 0.14519 0.06162 0.099367 0.7696046 0.046875 0.9999522 TRUE 8.13286e-06 ENSE00002400069_000 ENSE00002400069 000 7 121721522 121721691 - 32 96 42 NA NA NA NA NA AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 NA NA NA NA NA NA AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC natural 54 40 0.9982373 0.9973263 0.9977818 8125 8873 0.981527 0.9446973 0.9631122 0.9982373 0.9973263 0.981527 0.9446973 0 0 0 0 0.9977818 0.9631122 0 0 0 FALSE FALSE NA NA NA NA NA AASS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AASS NA NA NA ENSG00000008311 ENSE00003464725 NA NA NA NA NA NA NA 1.355315e-06 FALSE NA ENSE00002400069_001 ENSE00002400069 001 7 121721522 121721691 - 32 96 42 C T 121721534 2361 158 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACATTCTATCTGCTC 122081467 122081637 122081479 122081480 122081480 downstr_intron 20 1.645161 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACATTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 113 307 0.9996352 1 0.9998176 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.01810824 0.05530265 0.9977818 0.9631122 NA 0.03670544 NA FALSE NA 0 -1.592 . intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 20/23 1 NA ACG C,T 8.236e-06 7:122081480 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant 0.128861 0.17523 0.02945 0.062308 0.5047746 0.0673465 1.355315e-06 FALSE 2.03462e-05 ENSE00002400069_002 ENSE00002400069 002 7 121721522 121721691 - 32 96 42 G A 121721535 2362 157 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTATGTTCTATCTGCTC 122081467 122081637 122081480 122081481 122081481 downstr_intron 19 1.612903 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTATGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 415 190 1 1 1 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.018473 0.05530265 0.9977818 0.9631122 NA 0.03688782 NA FALSE NA 0 -0.662 . intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 20/23 rs374884203 1 NA A:0 A:0.0001 CGT G,A 4.118e-05 7:122081481 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant 0.114345 0.12711 0.00686 0.062308 0.4943722 0.0673465 1.355315e-06 FALSE 6.10366e-05 ENSE00002400069_003 ENSE00002400069 003 7 121721522 121721691 - 32 96 42 C T 121721541 2363 151 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCAAATTACGTTCTATCTGCTC 122081467 122081637 122081486 122081487 122081487 downstr_intron 13 1.419355 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCAAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 408 90 1 0.997809 0.9989045 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.018473 0.05311165 0.9977818 0.9631122 NA 0.03579232 NA FALSE NA 0 -1.06 . intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 20/23 rs563437450 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 5.765e-05 7:122081487 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant 0.030713 0.16242 0.02976 0.062308 0.7678782 0.0978179 1.355315e-06 FALSE 3.66175e-05 ENSE00002400069_004 ENSE00002400069 004 7 121721522 121721691 - 32 96 42 A T 121721544 2364 148 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACACCGAATTACGTTCTATCTGCTC 122081467 122081637 122081489 122081490 122081490 downstr_intron 10 1.322581 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACACCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 662 706 0.9547438 0.9948815 0.9748126 0.9982373 0.9973263 0.981527 0.9446973 NA NA -0.02678321 0.0501841 0.9977818 0.9631122 NA 0.01170045 NA FALSE NA 0 1.765 . intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 20/23 1 NA GAG A,T 8.236e-06 7:122081490 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant 0.659655 0.32475 0.32395 0.062308 0.7022062 0.195885 1.355315e-06 FALSE 4.06802e-06 ENSE00002400069_008 ENSE00002400069 008 7 121721522 121721691 - 32 96 42 G A 121721564 2368 128 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCTTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081509 122081510 122081510 exon -11 0.8958333 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCTTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 100 46 1 1 1 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.018473 0.05530265 0.9977818 0.9631122 NA 0.03688782 NA FALSE NA 1 2.141 . missense_variant MODERATE AASS HGNC 17366 ENST00000417368 20/24 1 tolerated(0.21) benign(0.021) NA AGG G,A 8.236e-06 7:122081510 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 missense_variant 0.316756 0.26525 0.6088 0.722319 0.7030263 0 1.355315e-06 FALSE NA ENSE00002400069_010 ENSE00002400069 010 7 121721522 121721691 - 32 96 42 A G 121721575 2370 117 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCCGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081520 122081521 122081521 exon -22 0.78125 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCCGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 428 360 0.9872409 0.9998942 0.9935675 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.005713878 0.05519687 0.9977818 0.9631122 NA 0.03045537 NA FALSE NA 0.022 0.361 rs139475283 synonymous_variant LOW AASS HGNC 17366 ENST00000417368 20/24 rs139475283 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0.0002 G:0 CAG A,G 1.647e-05 7:122081521 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 synonymous_variant 0.347529 0.20769 0.08365 0.722319 0.5246264 0 1.355315e-06 FALSE 8.13484e-06 ENSE00002400069_011 ENSE00002400069 011 7 121721522 121721691 - 32 96 42 G A 121721576 2371 116 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACTTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081521 122081522 122081522 exon -23 0.7708333 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACTTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 492 387 0.9842431 0.9530115 0.9686273 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.002716051 0.008314113 0.9977818 0.9631122 NA 0.005515082 NA FALSE NA 0.39 3.199 . missense_variant MODERATE AASS HGNC 17366 ENST00000417368 20/24 1 deleterious(0.03) benign(0.098) NA AGG G,A 8.236e-06 7:122081522 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 missense_variant 1.314617 0.27134 0.30888 0.722319 0.8634512 0 1.355315e-06 FALSE 4.06719e-06 ENSE00002400069_013 ENSE00002400069 013 7 121721522 121721691 - 32 96 42 G A 121721594 2373 98 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGTGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081539 122081540 122081540 exon -41 0.5833333 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGTGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 253 181 0.9981293 0.9980351 0.9980822 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.0166023 0.05333773 0.9977818 0.9631122 NA 0.03497001 NA FALSE NA 0.667 2.144 . missense_variant MODERATE AASS HGNC 17366 ENST00000417368 20/24 rs372679186 1 tolerated(0.05) benign(0.013) NA A:0 A:0.0001 CGC G,A 1.647e-05 7:122081540 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 missense_variant 1.591646 0.26922 0.35791 0.722319 0.9734454 0 1.355315e-06 FALSE 2.03447e-05 ENSE00002400069_014 ENSE00002400069 014 7 121721522 121721691 - 32 96 42 T G 121721604 2374 88 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATACACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081549 122081550 122081550 exon 46 0.4791667 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATACACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 722 391 1 0.9946688 0.9973344 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.018473 0.04997146 0.9977818 0.9631122 NA 0.03422223 NA FALSE NA 1 3.921 . missense_variant MODERATE AASS HGNC 17366 ENST00000417368 20/24 1 deleterious(0.03) benign(0.03) NA TTT T,G 8.236e-06 7:122081550 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 missense_variant 2.695329 0.95386 0.89513 0.732398 0.9874557 0 1.355315e-06 FALSE 1.22093e-05 ENSE00002400069_015 ENSE00002400069 015 7 121721522 121721691 - 32 96 42 G A 121721610 2375 82 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTTTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081555 122081556 122081556 exon 40 0.4166667 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTTTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 53 712 0.90138 0.9940103 0.9476952 0.9982373 0.9973263 0.981527 0.9446973 NA NA -0.08014704 0.04931299 0.9977818 0.9631122 NA -0.01541702 NA FALSE NA 0.998 2.61 . missense_variant MODERATE AASS HGNC 17366 ENST00000417368 20/24 1 tolerated(0.09) possibly_damaging(0.458) NA AGA G,A 8.237e-06 7:122081556 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 missense_variant 4.648966 0.82867 0.65512 0.732398 0.9986954 0 1.355315e-06 FALSE 4.07143e-06 ENSE00002400069_017 ENSE00002400069 017 7 121721522 121721691 - 32 96 42 C G 121721632 2377 60 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTCAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081577 122081578 122081578 exon 18 0.1875 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTCAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 1475 1115 0.9969733 0.9858401 0.9914067 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.01544628 0.04114279 0.9977818 0.9631122 NA 0.02829453 NA FALSE NA 1 2.988 . missense_variant MODERATE AASS HGNC 17366 ENST00000417368 20/24 1 deleterious(0.01) possibly_damaging(0.77) NA TCA C,G 8.237e-06 7:122081578 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 missense_variant 6.5145 0.94406 0.86006 0.732398 0.9986684 0 1.355315e-06 FALSE 4.08e-06 ENSE00002400069_018 ENSE00002400069 018 7 121721522 121721691 - 32 96 42 C T 121721637 2378 55 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAACTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081582 122081583 122081583 exon 13 0.1354167 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAACTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 1108 719 0.996907 0.9900719 0.9934895 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.01538004 0.04537458 0.9977818 0.9631122 NA 0.03037731 NA FALSE NA 1 3.777 . missense_variant MODERATE AASS HGNC 17366 ENST00000417368 20/24 1 tolerated(0.5) benign(0.033) NA GCT C,T 8.237e-06 7:122081583 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 missense_variant 3.811996 0.94036 0.77 0.732398 0.989079 0 1.355315e-06 FALSE 4.08153e-06 ENSE00002400069_019 ENSE00002400069 019 7 121721522 121721691 - 32 96 42 A G 121721642 2379 50 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATACGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081587 122081588 122081588 exon 8 0.08333333 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATACGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 209 80 0.9888144 1 0.9944072 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.007287386 0.05530265 0.9977818 0.9631122 NA 0.03129502 NA FALSE NA 1 4.193 . missense_variant MODERATE AASS HGNC 17366 ENST00000417368 20/24 1 tolerated(0.26) benign(0) NA CAT A,G 1.647e-05 7:122081588 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 missense_variant 1.986019 0.86614 0.13556 0.732398 0.8478606 0 1.355315e-06 FALSE 8.16753e-06 ENSE00002400069_021 ENSE00002400069 021 7 121721522 121721691 - 32 96 42 A G 121721653 2381 39 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTCCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081598 122081599 122081599 upstr_intron -4 -0.07142857 AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTCCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 233 356 1 0.9896394 0.9948197 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.018473 0.04494208 0.9977818 0.9631122 NA 0.03170754 NA FALSE NA 0.909 0.086 . splice_region_variant&intron_variant LOW AASS HGNC 17366 ENST00000417368 19/23 1 NA GAA A,G 8.237e-06 7:122081599 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 splice_region_variant 1.058135 0.27283 0.19641 0.256867 0.8368589 0.424879 1.355315e-06 FALSE 4.09232e-06 ENSE00002400069_022 ENSE00002400069 022 7 121721522 121721691 - 32 96 42 G T 121721659 2382 33 AAGAGAAAAATTTTATATACTGCTTATTAATTATTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081604 122081605 122081605 upstr_intron -10 -0.2142857 AAGAGAAAAATTTTATATACTGCTTATTAATTATTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 2502 53 0.7708658 0.8141051 0.7924855 0.9982373 0.9973263 0.981527 0.9446973 NA NA -0.2106612 -0.1305923 0.9977818 0.9631122 NA -0.1706267 NA FALSE NA 0.058 0.154 . intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 19/23 rs368322844 1 T:0.0010 T:0 T:0 NA T:0 T:0 T:0.0051 AGA G,T 0.0008402 7:122081605 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant 0.696948 0.22473 0.12216 0.088506 0.6423781 0.256878 1.355315e-06 FALSE 0.00084465 ENSE00002400069_023 ENSE00002400069 023 7 121721522 121721691 - 32 96 42 A G 121721665 2383 27 AAGAGAAAAATTTTATATACTGCTTACTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081610 122081611 122081611 upstr_intron -16 -0.3571429 AAGAGAAAAATTTTATATACTGCTTACTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 1377 1327 0.9853419 0.9861642 0.985753 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.003814912 0.04146683 0.9977818 0.9631122 NA 0.02264087 NA FALSE NA 0.023 0.396 . intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 19/23 1 NA AAT A,G 8.24e-06 7:122081611 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant 1.392293 0.21997 0.07963 0.088506 0.7901993 0.158006 1.355315e-06 FALSE 4.11726e-06 ENSE00002400069_024 ENSE00002400069 024 7 121721522 121721691 - 32 96 42 A G 121721671 2384 21 AAGAGAAAAATTTTATATACCGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081616 122081617 122081617 upstr_intron -22 -0.5 AAGAGAAAAATTTTATATACCGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 503 2179 0.9958606 0.995645 0.9957528 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.01433355 0.05094765 0.9977818 0.9631122 NA 0.0326406 NA FALSE NA 0 0.8 . intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 19/23 rs200806638 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0014 G:0 CAG A,G 0.0001401 7:122081617 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant 0.607487 0.25506 0.10874 0.088506 0.8276322 0.117492 1.355315e-06 FALSE 9.13454e-05 ENSE00002400069_025 ENSE00002400069 025 7 121721522 121721691 - 32 96 42 T C 121721675 2385 17 AAGAGAAAAATTTTATGTACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081620 122081621 122081621 upstr_intron -26 -0.5952381 AAGAGAAAAATTTTATGTACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 663 1184 0.9939498 0.9980136 0.9959817 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.01242284 0.05331629 0.9977818 0.9631122 NA 0.03286956 NA FALSE NA 0 -1.528 . intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 19/23 rs530294885 1 NA ATA T,C 8.245e-06 7:122081621 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant 0.068757 0.13334 0.03244 0.088506 0.5654387 0.0682865 1.355315e-06 FALSE 8.41744e-06 ENSE00002400069_027 ENSE00002400069 027 7 121721522 121721691 - 32 96 42 A C 121721680 2387 12 AAGAGAAAAATGTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC 122081467 122081637 122081625 122081626 122081626 upstr_intron -31 -0.7142857 AAGAGAAAAATGTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC AAGAGAAAAATTTTATATACTGCTTATTAATTCTTGTTTCAGGGATATATGAAAGCTTTGAATGGATTTGTAAAATTAGGTCTTATAAACAGAGAAGCGCTTCCTGCCTTTAGACCTGAGGCCAACCCTCTCACCTGGGTGAGTGACTCCGAATTACGTTCTATCTGCTC mutant NA NA NA NA NA 1076 1413 0.9994249 0.9986692 0.9990471 0.9982373 0.9973263 0.981527 0.9446973 NA NA 0.01789788 0.0539719 0.9977818 0.9631122 NA 0.03593489 NA FALSE NA 0.009 1.149 rs141097099 intron_variant MODIFIER AASS HGNC 17366 ENST00000417368 19/23 rs141097099 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AAA A,C 4.949e-05 7:122081626 AASS HGNC Symbol protein_coding 68633 ENSG00000008311 ENSE00003464725 intron_variant -0.156065 0.23588 0.04774 0.088506 0.4704731 0.0682425 1.355315e-06 FALSE 5.09442e-05 ENSE00002400370_000 ENSE00002400370 000 2 202688329 202688498 + 59 63 48 NA NA NA NA NA GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 NA NA NA NA NA NA GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG natural 416 848 0.85 0.8580807 0.8540403 6431 6454 0.7626368 0.5894972 0.676067 0.85 0.8580807 0.7626368 0.5894972 0 0 0 0 0.8540403 0.676067 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK15 NA NA NA ENSG00000138395 ENSE00003640314 NA NA NA NA NA NA NA 5.056229e-13 FALSE NA ENSE00002400370_001 ENSE00002400370 001 2 202688329 202688498 + 59 63 48 C T 202688345 4189 17 GGATGCTATCTAAGCATCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823621 201823622 201823622 upstr_intron -43 -0.7118644 GGATGCTATCTAAGCATCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 1960 416 0.9711877 0.9407147 0.9559512 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.2085509 0.3512175 0.8540403 0.676067 NA 0.2798842 NA FALSE NA 0 -0.192 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:201823622 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 1.105182 0.2527 0.03022 0.06567 0.7042844 0.0547904 5.056229e-13 FALSE 8.14452e-06 ENSE00002400370_002 ENSE00002400370 002 2 202688329 202688498 + 59 63 48 C G 202688345 4190 17 GGATGCTATCTAAGCAGCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823621 201823622 201823622 upstr_intron -43 -0.7118644 GGATGCTATCTAAGCAGCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 477 371 0.9529821 0.9887517 0.9708669 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1903452 0.3992544 0.8540403 0.676067 NA 0.2947998 NA FALSE NA 0 -0.192 NA NA NA CDK15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK15 NA NA NA ENSG00000138395 ENSE00003640314 intron_variant 0.923692 0.26714 0.07033 0.06567 0.5819731 0.0547904 5.056229e-13 FALSE 8.14452e-06 ENSE00002400370_003 ENSE00002400370 003 2 202688329 202688498 + 59 63 48 C A 202688348 4191 20 GGATGCTATCTAAGCACCAATAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823624 201823625 201823625 upstr_intron -40 -0.6610169 GGATGCTATCTAAGCACCAATAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 896 176 0.7674649 0.9634123 0.8654386 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.004828057 0.3739151 0.8540403 0.676067 NA 0.1893716 NA FALSE NA 0.66 1.871 . intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 5/12 rs542392513 1 A:0.0010 A:0 A:0 NA A:0 A:0 A:0.0051 ACT C,A 0.0001483 2:201823625 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.851731 0.30694 0.23719 0.06567 0.7073457 0.0547904 5.056229e-13 FALSE 0.000126179 ENSE00002400370_004 ENSE00002400370 004 2 202688329 202688498 + 59 63 48 C T 202688357 4192 29 GGATGCTATCTAAGCACCACTAAATTCATTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823633 201823634 201823634 upstr_intron -31 -0.5084746 GGATGCTATCTAAGCACCACTAAATTCATTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 608 596 0.7781083 0.7265946 0.7523514 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.01547147 0.1370974 0.8540403 0.676067 NA 0.07628442 NA FALSE NA 0 -0.305 . intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 5/12 rs373678952 1 NA T:0 T:0.0002 ACT C,T 7.413e-05 2:201823634 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.550774 0.22266 0.04311 0.06567 0.7415687 0.0936634 5.056229e-13 FALSE 8.54096e-05 ENSE00002400370_006 ENSE00002400370 006 2 202688329 202688498 + 59 63 48 C A 202688364 4194 36 GGATGCTATCTAAGCACCACTAAATTCACTCACTTATCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823640 201823641 201823641 upstr_intron -24 -0.3898305 GGATGCTATCTAAGCACCACTAAATTCACTCACTTATCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 1445 704 0.7992315 0.8007692 0.8000004 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.03659473 0.211272 0.8540403 0.676067 NA 0.1239334 NA FALSE NA 0 -0.154 NA NA NA CDK15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:201823641 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.296191 0.28865 0.12083 0.06567 0.7580543 0.0981788 5.056229e-13 FALSE 4.06524e-06 ENSE00002400370_007 ENSE00002400370 007 2 202688329 202688498 + 59 63 48 T C 202688369 4195 41 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTCCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823645 201823646 201823646 upstr_intron -19 -0.3050847 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTCCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 1841 657 0 0.07288582 0.03644291 0.85 0.8580807 0.7626368 0.5894972 NA NA -0.7626368 -0.5166114 0.8540403 0.676067 NA -0.6396241 NA TRUE NA 0 -1.01 . intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 5/12 1 NA TTC T,C 8.236e-06 2:201823646 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.103488 0.27751 0.08249 0.06567 0.6742381 0.0955983 5.056229e-13 FALSE 4.06428e-06 ENSE00002400370_008 ENSE00002400370 008 2 202688329 202688498 + 59 63 48 T C 202688371 4196 43 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCCCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823647 201823648 201823648 upstr_intron -17 -0.2711864 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCCCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 89 325 0.07943387 0.16362 0.1215269 0.85 0.8580807 0.7626368 0.5894972 NA NA -0.6832029 -0.4258772 0.8540403 0.676067 NA -0.5545401 NA TRUE NA 0 0.466 . intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 5/12 rs369220812 1 NA C:0.0002 C:0 CTC T,C 8.236e-06 2:201823648 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.123953 0.38434 0.16134 0.06567 0.6550167 0.0936634 5.056229e-13 FALSE NA ENSE00002400370_009 ENSE00002400370 009 2 202688329 202688498 + 59 63 48 C T 202688373 4197 45 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCTGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823649 201823650 201823650 upstr_intron -15 -0.2372881 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCTGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 876 2571 0.9702888 0.9797281 0.9750084 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.207652 0.3902308 0.8540403 0.676067 NA 0.2989414 NA FALSE NA 0 -0.278 . intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 5/12 rs371018921 1 NA T:0.0005 T:0 CCG C,T 4.118e-05 2:201823650 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.160362 0.23362 0.02453 0.06567 0.4556748 0.0976596 5.056229e-13 FALSE 2.84507e-05 ENSE00002400370_010 ENSE00002400370 010 2 202688329 202688498 + 59 63 48 G A 202688374 4198 46 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCACTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823650 201823651 201823651 upstr_intron -14 -0.220339 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCACTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 891 546 0.8045642 0.8124819 0.808523 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.04192736 0.2229846 0.8540403 0.676067 NA 0.132456 NA FALSE NA 0 -1.407 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:201823651 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.161773 0.20825 0.01759 0.06567 0.5442173 0.0931076 5.056229e-13 FALSE 5.28378e-05 ENSE00002400370_011 ENSE00002400370 011 2 202688329 202688498 + 59 63 48 G T 202688374 4199 46 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCTCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823650 201823651 201823651 upstr_intron -14 -0.220339 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCTCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 266 154 0.998912 0.8733033 0.9361076 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.2362751 0.2838061 0.8540403 0.676067 NA 0.2600406 NA FALSE NA 0 -1.407 NA NA NA CDK15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK15 NA NA NA ENSG00000138395 ENSE00003640314 intron_variant -0.016777 0.23073 0.07064 0.06567 0.5772214 0.0931076 5.056229e-13 FALSE 8.12889e-06 ENSE00002400370_012 ENSE00002400370 012 2 202688329 202688498 + 59 63 48 T C 202688376 4200 48 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCCGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823652 201823653 201823653 upstr_intron -12 -0.1864407 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCCGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 453 1066 0.002359713 0.003494429 0.002927071 0.85 0.8580807 0.7626368 0.5894972 NA NA -0.7602771 -0.5860028 0.8540403 0.676067 NA -0.67314 NA TRUE NA 0 0.217 . intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 5/12 1 NA CTG T,C 8.236e-06 2:201823653 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.26741 0.2642 0.00973 0.06567 0.6583852 0.104532 5.056229e-13 FALSE 4.06342e-06 ENSE00002400370_013 ENSE00002400370 013 2 202688329 202688498 + 59 63 48 A G 202688386 4201 58 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTGGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823662 201823663 201823663 upstr_intron -2 -0.01694915 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTGGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 1021 102 0.01234874 0.003604285 0.007976511 0.85 0.8580807 0.7626368 0.5894972 NA NA -0.7502881 -0.5858929 0.8540403 0.676067 NA -0.6680905 NA TRUE NA 1 8.16 . splice_acceptor_variant HIGH CDK15 HGNC 14434 ENST00000434439 5/12 1 NA HC TAG A,G 8.236e-06 2:201823663 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 splice_acceptor_variant 4.864146 0.9942 0.9914 0.06567 0.9949746 0.973617 5.056229e-13 FALSE 4.0627e-06 ENSE00002400370_015 ENSE00002400370 015 2 202688329 202688498 + 59 63 48 A G 202688389 4203 61 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCGCACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823665 201823666 201823666 exon 2 0.03174603 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCGCACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 251 685 0.9686848 0.9568978 0.9627913 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.206048 0.3674006 0.8540403 0.676067 NA 0.2867243 NA FALSE NA 1 6.509 . missense_variant&splice_region_variant MODERATE CDK15 HGNC 14434 ENST00000434439 6/13 1 deleterious(0.03) possibly_damaging(0.673) NA CAC A,G 1.647e-05 2:201823666 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 missense_variant 4.288921 0.98995 0.97284 0.487112 0.9895224 0 5.056229e-13 FALSE 8.12493e-06 ENSE00002400370_016 ENSE00002400370 016 2 202688329 202688498 + 59 63 48 A G 202688391 4204 63 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACGCAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823667 201823668 201823668 exon 4 0.06349206 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACGCAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 52 1188 0.95 0.9735517 0.9617759 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1873632 0.3840545 0.8540403 0.676067 NA 0.2857088 NA FALSE NA 1 8.296 . missense_variant MODERATE CDK15 HGNC 14434 ENST00000434439 6/13 rs199869929 1 deleterious(0.01) probably_damaging(0.98) G:0.0004 G:0 G:0 NA G:0 G:0.002 G:0 G:0 G:0.0002 CAC A,G 0.001837 2:201823668 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 missense_variant 3.820545 0.98895 0.98491 0.487112 0.9984751 0 5.056229e-13 FALSE 0.00192956 ENSE00002400370_019 ENSE00002400370 019 2 202688329 202688498 + 59 63 48 C A 202688397 4207 69 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACATGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823673 201823674 201823674 exon 10 0.1587302 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACATGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 44 105 0.05728644 0.003062258 0.03017435 0.85 0.8580807 0.7626368 0.5894972 NA NA -0.7053504 -0.586435 0.8540403 0.676067 NA -0.6458927 NA TRUE NA 0.998 3.295 rs191446880 missense_variant MODERATE CDK15 HGNC 14434 ENST00000434439 6/13 rs191446880 1 deleterious(0) probably_damaging(0.998) A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 CCT C,A 2.471e-05 2:201823674 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 missense_variant 6.571614 0.99236 0.97029 0.487112 0.9970656 0 5.056229e-13 FALSE 1.21859e-05 ENSE00002400370_020 ENSE00002400370 020 2 202688329 202688498 + 59 63 48 A G 202688409 4208 81 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATGTGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823685 201823686 201823686 exon 22 0.3492063 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATGTGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 491 1279 0.9717588 0.9869436 0.9793512 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.209122 0.3974464 0.8540403 0.676067 NA 0.3032842 NA FALSE NA 1 4.279 . missense_variant MODERATE CDK15 HGNC 14434 ENST00000434439 6/13 1 deleterious(0) possibly_damaging(0.896) NA TAT A,G 8.236e-06 2:201823686 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 missense_variant 4.494938 0.98011 0.95556 0.487112 0.9936421 0 5.056229e-13 FALSE 4.0622e-06 ENSE00002400370_022 ENSE00002400370 022 2 202688329 202688498 + 59 63 48 A C 202688419 4210 91 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCCTCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823695 201823696 201823696 exon -32 0.5079365 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCCTCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 389 1310 0.5312239 0.6996703 0.6154471 0.85 0.8580807 0.7626368 0.5894972 NA NA -0.231413 0.110173 0.8540403 0.676067 NA -0.06061997 NA FALSE NA 1 8.296 . missense_variant MODERATE CDK15 HGNC 14434 ENST00000434439 6/13 1 deleterious(0.01) probably_damaging(1) NA CAT A,C 8.236e-06 2:201823696 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 missense_variant 4.087304 0.98987 0.98742 0.487112 0.9850511 0 5.056229e-13 FALSE 4.06213e-06 ENSE00002400370_025 ENSE00002400370 025 2 202688329 202688498 + 59 63 48 C T 202688439 4213 111 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTTATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823715 201823716 201823716 exon -12 0.8253968 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTTATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 2582 703 0.8001452 0.8296085 0.8148769 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.03750841 0.2401113 0.8540403 0.676067 NA 0.1388099 NA FALSE NA 0.03 0.976 . missense_variant MODERATE CDK15 HGNC 14434 ENST00000434439 6/13 1 tolerated(0.41) benign(0.192) NA TCA C,T 8.236e-06 2:201823716 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 missense_variant 2.329393 0.97793 0.74384 0.487112 0.9558497 0 5.056229e-13 FALSE NA ENSE00002400370_026 ENSE00002400370 026 2 202688329 202688498 + 59 63 48 A G 202688442 4214 114 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATGATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823718 201823719 201823719 exon -9 0.8730159 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATGATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 249 394 0.9942995 0.9120101 0.9531548 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.2316627 0.3225129 0.8540403 0.676067 NA 0.2770878 NA FALSE NA 1 8.296 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:201823719 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 missense_variant 5.249895 0.99425 0.99178 0.487112 0.9980556 0 5.056229e-13 FALSE 4.06263e-06 ENSE00002400370_027 ENSE00002400370 027 2 202688329 202688498 + 59 63 48 A T 202688442 4215 114 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATTATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823718 201823719 201823719 exon -9 0.8730159 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATTATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 407 1254 0.8880449 0.8810115 0.8845282 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1254081 0.2915143 0.8540403 0.676067 NA 0.2084612 NA FALSE NA 1 8.296 NA NA NA CDK15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK15 NA NA NA ENSG00000138395 ENSE00003640314 missense_variant 6.324794 0.99429 0.99202 0.487112 0.9955585 0 5.056229e-13 FALSE 8.12526e-06 ENSE00002400370_028 ENSE00002400370 028 2 202688329 202688498 + 59 63 48 G A 202688451 4216 123 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAATGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823727 201823728 201823728 downstr_intron 1 1.021277 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAATGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 201 439 0.001908316 0.01420574 0.008057029 0.85 0.8580807 0.7626368 0.5894972 NA NA -0.7607285 -0.5752915 0.8540403 0.676067 NA -0.66801 NA TRUE NA 1 6.343 . splice_donor_variant HIGH CDK15 HGNC 14434 ENST00000434439 6/12 1 NA HC AGT G,A 8.236e-06 2:201823728 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 splice_donor_variant 5.913565 0.99629 0.99608 0.06567 0.9954401 0.982731 5.056229e-13 FALSE 4.06329e-06 ENSE00002400370_029 ENSE00002400370 029 2 202688329 202688498 + 59 63 48 C T 202688458 4217 130 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTATGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823734 201823735 201823735 downstr_intron 8 1.170213 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTATGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 1115 29 0.9480436 0.9446335 0.9463386 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1854068 0.3551362 0.8540403 0.676067 NA 0.2702715 NA FALSE NA 0 0.072 . splice_region_variant&intron_variant LOW CDK15 HGNC 14434 ENST00000434439 6/12 rs201806765 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 ACG C,T 4.942e-05 2:201823735 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 splice_region_variant 0.382345 0.23783 0.02954 0.06567 0.5530056 0.108591 5.056229e-13 FALSE 4.06431e-05 ENSE00002400370_030 ENSE00002400370 030 2 202688329 202688498 + 59 63 48 G A 202688459 4218 131 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACATTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823735 201823736 201823736 downstr_intron 9 1.191489 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACATTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 1578 383 0.9039217 0.8771167 0.8905192 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1412848 0.2876194 0.8540403 0.676067 NA 0.2144521 NA FALSE NA 0 -0.179 . intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 6/12 rs374059521 1 NA A:0 A:0.0001 CGT G,A 2.471e-05 2:201823736 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.075848 0.2374 0.03786 0.06567 0.4362869 0.085056 5.056229e-13 FALSE 1.21939e-05 ENSE00002400370_031 ENSE00002400370 031 2 202688329 202688498 + 59 63 48 T G 202688460 4219 132 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGGTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823736 201823737 201823737 downstr_intron 10 1.212766 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGGTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 1886 1928 0.9446284 0.960564 0.9525962 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1819915 0.3710668 0.8540403 0.676067 NA 0.2765292 NA FALSE NA 0 -0.842 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:201823737 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.208761 0.26116 0.08387 0.06567 0.5969745 0.0436289 5.056229e-13 FALSE 4.06431e-06 ENSE00002400370_032 ENSE00002400370 032 2 202688329 202688498 + 59 63 48 T C 202688460 4220 132 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGCTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823736 201823737 201823737 downstr_intron 10 1.212766 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGCTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 540 869 0.9007304 0.9369132 0.9188218 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1380936 0.3474159 0.8540403 0.676067 NA 0.2427548 NA FALSE NA 0 -0.842 NA NA NA CDK15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CDK15 NA NA NA ENSG00000138395 ENSE00003640314 intron_variant 0.096643 0.25011 0.05485 0.06567 0.5756954 0.0436289 5.056229e-13 FALSE 4.06431e-06 ENSE00002400370_033 ENSE00002400370 033 2 202688329 202688498 + 59 63 48 G T 202688471 4221 143 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGTACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823747 201823748 201823748 downstr_intron 21 1.446809 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGTACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 1405 450 0.9355636 0.9465399 0.9410518 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1729268 0.3570427 0.8540403 0.676067 NA 0.2649847 NA FALSE NA 0.014 2.197 rs114832060 intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 6/12 rs114832060 1 T:0.0006 T:0 T:0.0029 NA T:0 T:0.001 T:0 T:0.0009 T:0.004 GGA G,T 0.001631 2:201823748 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant -0.316671 0.27755 0.28163 0.06567 0.4409393 0.0436289 5.056229e-13 FALSE 0.00188346 ENSE00002400370_034 ENSE00002400370 034 2 202688329 202688498 + 59 63 48 C A 202688473 4222 145 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGAACCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 201823749 201823750 201823750 downstr_intron 23 1.489362 GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGAACCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG mutant NA NA NA NA NA 672 415 0.9407999 0.9321661 0.936483 0.85 0.8580807 0.7626368 0.5894972 NA NA 0.1781631 0.3426688 0.8540403 0.676067 NA 0.260416 NA FALSE NA 0.001 -0.449 . intron_variant MODIFIER CDK15 HGNC 14434 ENST00000434439 6/12 1 NA ACC C,A 8.236e-06 2:201823750 CDK15 HGNC Symbol protein_coding 105089 ENSG00000138395 ENSE00003640314 intron_variant 0.388315 0.29557 0.02375 0.06567 0.6312966 0.0436289 5.056229e-13 FALSE 4.06841e-06 ENSE00002400370_BRK ENSE00002400370 BRK 2 202688329 202688498 + 59 63 48 A,G; T,T NA NA NA GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTTTCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGACCGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG 201823605 201823775 NA NA NA NA NA NA GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTTTCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGACCGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG GGATGCTATCTAAGCACCACTAAATTCACTCACTTCTCTTTCTCCGCTGTTTTATTTAGCACACAGACCTGGCCCAGTATATGTCTCAGCATCCAGGAGGGCTTCATCCTCATAATGTCAGAGTGAGTACGTTAAGGGTCAGGACCCTCTCCTGGCTTGCCCACAGAAGG control 113 32 0 0 0 408 639 0.1970686 0.00797042 0.1025195 0.85 0.8580807 0.7626368 0.5894972 -0.85 -0.8580807 -0.5655682 -0.5815268 0.8540403 0.676067 -0.8540403 -0.5735475 0.2804928 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003640314 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002401069_000 ENSE00002401069 000 22 41664051 41664220 - 50 60 60 NA NA NA NA NA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA 41268046 41268216 NA NA NA NA NA NA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA natural NA NA NA NA NA 740 974 0.9552169 0.9998376 0.9775273 NA NA 0.9552169 0.9998376 NA NA 0 0 NA 0.9775273 NA 0 NA FALSE NA NA NA NA NA NA RANGAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RANGAP1 NA NA NA ENSG00000100401 ENSE00003787580 NA NA NA NA NA NA NA 0.1327187 FALSE NA ENSE00002401069_001 ENSE00002401069 001 22 41664051 41664220 - 50 60 60 G A 41664071 1067 150 CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCATGCGCAAGGCCCTCTTTGGCA 41268046 41268216 41268066 41268067 41268067 downstr_intron 30 1.612245 CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCATGCGCAAGGCCCTCTTTGGCA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA mutant NA NA NA NA NA 343 538 0.9990362 1 0.9995181 NA NA 0.9552169 0.9998376 NA NA 0.04381927 0.0001624082 NA 0.9775273 NA 0.02199084 NA FALSE NA 0 -0.041 rs55893749 intron_variant MODIFIER RANGAP1 HGNC 9854 ENST00000452543 4/4 rs55893749 1 A:0.0232 A:0.0023 A:0.0187 NA A:0 A:0.0586 A:0.0419 A:0.0105 A:0.052 CGT G,A 0.026 22:41268067 RANGAP1 HGNC Symbol protein_coding 40640 ENSG00000100401 ENSE00003787580 intron_variant -0.394086 0.16303 0.02293 0.156188 0.6250007 0.0490131 0.1327187 FALSE 0.0476091 ENSE00002401069_003 ENSE00002401069 003 22 41664051 41664220 - 50 60 60 G A 41664074 1069 147 CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTTCACGCGCAAGGCCCTCTTTGGCA 41268046 41268216 41268069 41268070 41268070 downstr_intron 27 1.55102 CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTTCACGCGCAAGGCCCTCTTTGGCA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA mutant NA NA NA NA NA 59 644 1 0.9997543 0.9998772 NA NA 0.9552169 0.9998376 NA NA 0.04478309 -8.324863e-05 NA 0.9775273 NA 0.02234992 NA FALSE NA 0.002 0.71 . intron_variant MODIFIER RANGAP1 HGNC 9854 ENST00000452543 4/4 rs553016907 1 NA GGA G,A 8.82e-06 22:41268070 RANGAP1 HGNC Symbol protein_coding 40640 ENSG00000100401 ENSE00003787580 intron_variant 0.155814 0.27583 0.06943 0.156188 0.5328705 0.0490131 0.1327187 FALSE 6.4792e-06 ENSE00002401069_008 ENSE00002401069 008 22 41664051 41664220 - 50 60 60 G A 41664173 1074 48 CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTTTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA 41268046 41268216 41268168 41268169 41268169 upstr_intron -13 -0.2 CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTTTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA mutant NA NA NA NA NA 148 516 0.9974702 0.9982854 0.9978778 NA NA 0.9552169 0.9998376 NA NA 0.04225331 -0.001552171 NA 0.9775273 NA 0.02035057 NA FALSE NA 0 -0.512 . intron_variant MODIFIER RANGAP1 HGNC 9854 ENST00000452543 3/4 1 NA AGA G,A 7.624e-05 22:41268169 RANGAP1 HGNC Symbol protein_coding 40640 ENSG00000100401 ENSE00003787580 intron_variant 0.112865 0.24932 0.12486 0.069865 0.3923663 0.0901717 0.1327187 FALSE 0.000152635 ENSE00002401069_012 ENSE00002401069 012 22 41664051 41664220 - 50 60 60 G A 41664207 1078 14 CTTCACTATGGGCTTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA 41268046 41268216 41268202 41268203 41268203 upstr_intron -47 -0.7666667 CTTCACTATGGGCTTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA mutant NA NA NA NA NA 87 89 1 1 1 NA NA 0.9552169 0.9998376 NA NA 0.04478309 0.0001624082 NA 0.9775273 NA 0.02247275 NA FALSE NA 0.025 1.863 . intron_variant MODIFIER RANGAP1 HGNC 9854 ENST00000452543 3/4 1 NA AGG G,A 3.149e-05 22:41268203 RANGAP1 HGNC Symbol protein_coding 40640 ENSG00000100401 ENSE00003787580 intron_variant 0.317314 0.26407 0.19606 0.069865 0.7414668 0.0828995 0.1327187 FALSE 4.7201e-05 ENSE00002401069_BRK ENSE00002401069 BRK 22 41664051 41664220 - 50 60 60 A,G; T,T NA NA NA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCTTCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGCCAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA 41268046 41268216 NA NA NA NA NA NA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCTTCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGCCAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA CTTCACTATGGGCCTCCAGGGGTCTCTCTCCCGCTAACTCTTCTCTTCTTTCCGTTGCAGCGCTGCCACTGGAGTGACATGTTCACGGGAAGGCTGCGGACCGAGATCCCACCAGCCCTGGTAAGCGAACTAGCCGCTCTTCCCCTCCACGCGCAAGGCCCTCTTTGGCA control NA NA NA NA NA 114 59 0 0 0 NA NA 0.9552169 0.9998376 NA NA -0.9552169 -0.9998376 NA 0.9775273 NA -0.9775273 NA TRUE NA NA NA NA NA NA RANGAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RANGAP1 NA NA NA ENSG00000100401 ENSE00003787580 NA NA NA NA NA NA NA 0.1327187 FALSE NA ENSE00002401102_000 ENSE00002401102 000 7 137330171 137330340 - 47 66 57 NA NA NA NA NA AGGCCTGGGGAGCCTCCTGCGAGGCCATGAGGTGGCTGGGCTCTTACCTTACCACACTGCTTACATTTCCCCTCCTGCCGACGCCTGTGCACCCAGTGATGACGTACAAAATTCTGTGGGAAAACAAAATTAAATGAATATTTTTAAAAATTTATTTCTATAGACAGGGT 137645424 137645594 NA NA NA NA NA NA ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT natural NA NA NA NA NA 1798 2305 0.9979241 0.8303294 0.9141268 NA NA 0.9979241 0.8303294 NA NA 0 0 NA 0.9141268 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00003568444 NA NA NA NA NA NA NA 0.7380162 FALSE NA ENSE00002401102_004 ENSE00002401102 004 7 137330171 137330340 - 47 66 57 C A 137330190 2737 151 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCTCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645443 137645444 137645444 downstr_intron 28 1.608696 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCTCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 307 145 1 1 1 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1696706 NA 0.9141268 NA 0.08587324 NA FALSE NA 0 -4.555 NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:137645444 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 intron_variant -0.152058 0.09896 0.01577 0.061011 0.4869001 0.0455939 0.7380162 FALSE 8.26644e-06 ENSE00002401102_005 ENSE00002401102 005 7 137330171 137330340 - 47 66 57 G A 137330191 2738 150 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTTGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645444 137645445 137645445 downstr_intron 27 1.586957 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTTGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 247 79 1 1 1 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1696706 NA 0.9141268 NA 0.08587324 NA FALSE NA 0 -1.87 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 6/33 1 NA CGA G,A 4.942e-05 7:137645445 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 intron_variant -0.013083 0.10984 0.01354 0.061011 0.5614429 0.0455939 0.7380162 FALSE 3.71155e-05 ENSE00002401102_006 ENSE00002401102 006 7 137330171 137330340 - 47 66 57 G A 137330194 2739 147 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGTCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645447 137645448 137645448 downstr_intron 24 1.521739 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGTCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 779 94 0.9801422 1 0.9900711 NA NA 0.9979241 0.8303294 NA NA -0.0177819 0.1696706 NA 0.9141268 NA 0.07594436 NA FALSE NA 0 0.004 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 6/33 1 NA GGC G,A 7.413e-05 7:137645448 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 intron_variant 0.371862 0.19653 0.03176 0.061011 0.338143 0.0448725 0.7380162 FALSE 6.56098e-05 ENSE00002401102_007 ENSE00002401102 007 7 137330171 137330340 - 47 66 57 C A 137330195 2740 146 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGTCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645448 137645449 137645449 downstr_intron 23 1.5 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGTCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 849 559 0.9952342 0.9971602 0.9961972 NA NA 0.9979241 0.8303294 NA NA -0.002689954 0.1668308 NA 0.9141268 NA 0.08207043 NA FALSE NA 0 0.102 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 6/33 rs564566575 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GCC C,A 8.236e-06 7:137645449 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 intron_variant 0.088323 0.19681 0.13589 0.061011 0.4751044 0.0448725 0.7380162 FALSE NA ENSE00002401102_008 ENSE00002401102 008 7 137330171 137330340 - 47 66 57 A G 137330224 2741 117 AGGCCTGGGGAGCCTCCTGCGAGGCCATGAGGTGGCTGGGCTCTTACCTTACCGCACTGCTTACATTTCCCCTCCTGCCGACGCCTGTGCACCCAGTGATGACGTACAAAATTCTGTGGGAAAACAAAATTAAATGAATATTTTTAAAAATTTATTTCTATAGACAGGGT 137645424 137645594 137645477 137645478 137645478 exon -7 0.9090909 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGCGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 394 1122 0.9261956 0.9932574 0.9597265 NA NA 0.9979241 0.8303294 NA NA -0.07172858 0.162928 NA 0.9141268 NA 0.0455997 NA FALSE NA 1 1.337 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 6/34 1 NA CAC A,G 2.471e-05 7:137645478 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 synonymous_variant 0.27415 0.96222 0.71024 0.553676 0.679949 0 0.7380162 FALSE 2.03341e-05 ENSE00002401102_009 ENSE00002401102 009 7 137330171 137330340 - 47 66 57 T C 137330231 2742 110 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAGGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645484 137645485 137645485 exon -14 0.8030303 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAGGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 88 466 1 0.9882978 0.9941489 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1579684 NA 0.9141268 NA 0.08002212 NA FALSE NA 1 3.904 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 6/34 1 tolerated(0.99) benign(0.096) NA CTT T,C 3.295e-05 7:137645485 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 missense_variant 1.803395 0.98275 0.83048 0.553676 0.9874369 0 0.7380162 FALSE 2.03211e-05 ENSE00002401102_012 ENSE00002401102 012 7 137330171 137330340 - 47 66 57 C G 137330245 2745 96 AGGCCTGGGGAGCCTCCTGCGAGGCCATGAGGTGGCTGGGCTCTTACCTTACCACACTGCTTACATTTCCCCTCGTGCCGACGCCTGTGCACCCAGTGATGACGTACAAAATTCTGTGGGAAAACAAAATTAAATGAATATTTTTAAAAATTTATTTCTATAGACAGGGT 137645424 137645594 137645498 137645499 137645499 exon -28 0.5909091 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCACGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 91 130 1 1 1 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1696706 NA 0.9141268 NA 0.08587324 NA FALSE NA 1 2.897 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 6/34 1 deleterious(0) probably_damaging(0.999) NA CCT C,G 8.236e-06 7:137645499 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 missense_variant 5.286489 0.98618 0.90711 0.553676 0.9977366 0 0.7380162 FALSE 4.06425e-06 ENSE00002401102_013 ENSE00002401102 013 7 137330171 137330340 - 47 66 57 C T 137330252 2746 89 AGGCCTGGGGAGCCTCCTGCGAGGCCATGAGGTGGCTGGGCTCTTACCTTACCACACTGCTTACATTTCCCCTCCTGCCGATGCCTGTGCACCCAGTGATGACGTACAAAATTCTGTGGGAAAACAAAATTAAATGAATATTTTTAAAAATTTATTTCTATAGACAGGGT 137645424 137645594 137645505 137645506 137645506 exon 32 0.4848485 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCATCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 204 162 1 0.9892147 0.9946074 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1588854 NA 0.9141268 NA 0.08048061 NA FALSE NA 1 5.525 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 6/34 rs200612150 1 deleterious(0) possibly_damaging(0.718) T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 ACG C,T 2.471e-05 7:137645506 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 missense_variant 7.629551 0.98541 0.93099 0.553676 0.9994625 0 0.7380162 FALSE 2.84532e-05 ENSE00002401102_014 ENSE00002401102 014 7 137330171 137330340 - 47 66 57 G A 137330253 2747 88 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGTGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645506 137645507 137645507 exon 31 0.469697 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGTGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 548 22 1 0.9927423 0.9963711 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1624129 NA 0.9141268 NA 0.08224438 NA FALSE NA 1 1.811 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 6/34 COSM1448341&COSM1448340 1 deleterious(0) probably_damaging(0.998) NA CGC G,A 1.647e-05 7:137645507 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 missense_variant 7.232628 0.97067 0.81658 0.553676 0.9993036 0 0.7380162 FALSE 8.12949e-06 ENSE00002401102_015 ENSE00002401102 015 7 137330171 137330340 - 47 66 57 C A 137330254 2748 87 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGTCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645507 137645508 137645508 exon 30 0.4545455 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGTCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 1054 975 1 0.9996087 0.9998044 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1692793 NA 0.9141268 NA 0.0856776 NA FALSE NA 0.971 0.008 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 6/34 1 deleterious(0) probably_damaging(0.999) NA GCC C,A 2.471e-05 7:137645508 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 missense_variant 6.414051 0.96331 0.68075 0.553676 0.9978178 0 0.7380162 FALSE 2.03234e-05 ENSE00002401102_017 ENSE00002401102 017 7 137330171 137330340 - 47 66 57 C T 137330260 2750 81 AGGCCTGGGGAGCCTCCTGCGAGGCCATGAGGTGGCTGGGCTCTTACCTTACCACACTGCTTACATTTCCCCTCCTGCCGACGCCTGTGTACCCAGTGATGACGTACAAAATTCTGTGGGAAAACAAAATTAAATGAATATTTTTAAAAATTTATTTCTATAGACAGGGT 137645424 137645594 137645513 137645514 137645514 exon 24 0.3636364 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTACACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 22 51 0.9680916 0.9708732 0.9694824 NA NA 0.9979241 0.8303294 NA NA -0.02983252 0.1405439 NA 0.9141268 NA 0.05535568 NA FALSE NA 0.927 -0.187 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 6/34 COSM1085966&COSM1596821 1 NA GCA C,T 8.236e-06 7:137645514 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 synonymous_variant 1.689296 0.95582 0.42126 0.553676 0.7236655 0 0.7380162 FALSE 8.13094e-06 ENSE00002401102_018 ENSE00002401102 018 7 137330171 137330340 - 47 66 57 C T 137330273 2751 68 AGGCCTGGGGAGCCTCCTGCGAGGCCATGAGGTGGCTGGGCTCTTACCTTACCACACTGCTTACATTTCCCCTCCTGCCGACGCCTGTGCACCCAGTGATGATGTACAAAATTCTGTGGGAAAACAAAATTAAATGAATATTTTTAAAAATTTATTTCTATAGACAGGGT 137645424 137645594 137645526 137645527 137645527 exon 11 0.1666667 ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACATCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 165 92 1 0.9787182 0.9893591 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1483888 NA 0.9141268 NA 0.07523233 NA FALSE NA 1 5.525 rs148415050 missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 6/34 rs148415050 1 tolerated(0.25) probably_damaging(0.998) NA T:0.0002 T:0.0003 ACG C,T 0.0001647 7:137645527 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 missense_variant 6.414686 0.98541 0.93099 0.553676 0.9992176 0 0.7380162 FALSE 0.000170885 ENSE00002401102_023 ENSE00002401102 023 7 137330171 137330340 - 47 66 57 T A 137330309 2756 32 ACCCTGTCTATAGAAATAAATTTTTAAAAATTTTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645562 137645563 137645563 upstr_intron -26 -0.4385965 ACCCTGTCTATAGAAATAAATTTTTAAAAATTTTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 264 40 0.9984306 0.9960254 0.997228 NA NA 0.9979241 0.8303294 NA NA 0.0005065063 0.165696 NA 0.9141268 NA 0.08310128 NA FALSE NA 0.001 -0.156 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 5/33 1 NA ATA T,A 1.654e-05 7:137645563 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 intron_variant 0.372818 0.23388 0.00975 0.061011 0.6050715 0.0436289 0.7380162 FALSE 8.79214e-06 ENSE00002401102_024 ENSE00002401102 024 7 137330171 137330340 - 47 66 57 T A 137330315 2757 26 ACCCTGTCTATAGAAATAAATTTTTTAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645568 137645569 137645569 upstr_intron -32 -0.5438596 ACCCTGTCTATAGAAATAAATTTTTTAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 591 1023 0.988926 1 0.994463 NA NA 0.9979241 0.8303294 NA NA -0.008998122 0.1696706 NA 0.9141268 NA 0.08033625 NA FALSE NA 0.048 0.938 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:137645569 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 intron_variant -0.017958 0.15034 0.15239 0.061011 0.3682835 0.0436289 0.7380162 FALSE 9.69866e-06 ENSE00002401102_025 ENSE00002401102 025 7 137330171 137330340 - 47 66 57 T C 137330315 2758 26 ACCCTGTCTATAGAAATAAATTTTTGAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645568 137645569 137645569 upstr_intron -32 -0.5438596 ACCCTGTCTATAGAAATAAATTTTTGAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 423 156 0.8639085 1 0.9319542 NA NA 0.9979241 0.8303294 NA NA -0.1340156 0.1696706 NA 0.9141268 NA 0.01782749 NA FALSE NA 0.048 0.938 NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00003568444 intron_variant -0.264552 0.15467 0.15317 0.061011 0.3706344 0.0436289 0.7380162 FALSE 4.84933e-06 ENSE00002401102_026 ENSE00002401102 026 7 137330171 137330340 - 47 66 57 A T 137330316 2759 25 AGGCCTGGGGAGCCTCCTGCGAGGCCATGAGGTGGCTGGGCTCTTACCTTACCACACTGCTTACATTTCCCCTCCTGCCGACGCCTGTGCACCCAGTGATGACGTACAAAATTCTGTGGGAAAACAAAATTAAATGAATATTTTTTAAAATTTATTTCTATAGACAGGGT 137645424 137645594 137645569 137645570 137645570 upstr_intron -33 -0.5614035 ACCCTGTCTATAGAAATAAATTTTAAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 165 53 1 1 1 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1696706 NA 0.9141268 NA 0.08587324 NA FALSE NA 0.001 -1.627 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 5/33 1 NA TAA A,T 8.38e-06 7:137645570 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 intron_variant -0.617753 0.16057 0.00238 0.061011 0.1812007 0.0436289 0.7380162 FALSE 4.83709e-06 ENSE00002401102_028 ENSE00002401102 028 7 137330171 137330340 - 47 66 57 C A 137330328 2761 13 ACCCTGTCTATATAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 137645581 137645582 137645582 upstr_intron -45 -0.7719298 ACCCTGTCTATATAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT mutant NA NA NA NA NA 844 44 1 1 1 NA NA 0.9979241 0.8303294 NA NA 0.002075859 0.1696706 NA 0.9141268 NA 0.08587324 NA FALSE NA 0 -1.615 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 5/33 rs566540158 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TCT C,A 1.721e-05 7:137645582 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003568444 intron_variant -0.580839 0.05348 0.00281 0.061011 0.5321499 0.0436289 0.7380162 FALSE NA ENSE00002401102_BRK ENSE00002401102 BRK 7 137330171 137330340 - 47 66 57 A,G; T,T NA NA NA ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACTTAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGCCAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT 137645424 137645594 NA NA NA NA NA NA ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACTTAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGCCAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT ACCCTGTCTATAGAAATAAATTTTTAAAAATATTCATTTAATTTTGTTTTCCCACAGAATTTTGTACGTCATCACTGGGTGCACAGGCGTCGGCAGGAGGGGAAATGTAAGCAGTGTGGTAAGGTAAGAGCCCAGCCACCTCATGGCCTCGCAGGAGGCTCCCCAGGCCT control NA NA NA NA NA 19 150 0 0 0 NA NA 0.9979241 0.8303294 NA NA -0.9979241 -0.8303294 NA 0.9141268 NA -0.9141268 NA TRUE NA NA NA NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00003568444 NA NA NA NA NA NA NA 0.7380162 FALSE NA ENSE00002401325_000 ENSE00002401325 000 7 144069723 144069892 + 53 75 42 NA NA NA NA NA CTGTTTCCCATTTCTTCCTCCCATCTCACTCCTGCCTACTGTCTGTTCAATAGAACATTCTGAAGAGAACACAGCCTGGCTCCTCGGAGGAGGCAGAGGCCACGAAGGCACACCACGCCCTGGAGCAGGTAGGCAGCCACCACCTCCACTCTGACCCTCTGTGTGTTCTT 144372629 144372799 NA NA NA NA NA NA CTGTTTCCCATTTCTTCCTCCCATCTCACTCCTGCCTACTGTCTGTTCAATAGAACATTCTGAAGAGAACACAGCCTGGCTCCTCGGAGGAGGCAGAGGCCACGAAGGCACACCACGCCCTGGAGCAGGTAGGCAGCCACCACCTCCACTCTGACCCTCTGTGTGTTCTT CTGTTTCCCATTTCTTCCTCCCATCTCACTCCTGCCTACTGTCTGTTCAATAGAACATTCTGAAGAGAACACAGCCTGGCTCCTCGGAGGAGGCAGAGGCCACGAAGGCACACCACGCCCTGGAGCAGGTAGGCAGCCACCACCTCCACTCTGACCCTCTGTGTGTTCTT natural 50 25 0.9887535 0.9931491 0.9909513 2216 3593 0.94993 0.9631515 0.9565408 0.9887535 0.9931491 0.94993 0.9631515 0 0 0 0 0.9909513 0.9565408 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00002445481 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00002401325_BRK ENSE00002401325 BRK 7 144069723 144069892 + 53 75 42 A,G; T,T NA NA NA CTGTTTCCCATTTCTTCCTCCCATCTCACTCCTGCCTACTGTCTGTTCAATTTAACATTCTGAAGAGAACACAGCCTGGCTCCTCGGAGGAGGCAGAGGCCACGAAGGCACACCACGCCCTGGAGCAGCCAGGCAGCCACCACCTCCACTCTGACCCTCTGTGTGTTCTT 144372629 144372799 NA NA NA NA NA NA CTGTTTCCCATTTCTTCCTCCCATCTCACTCCTGCCTACTGTCTGTTCAATTTAACATTCTGAAGAGAACACAGCCTGGCTCCTCGGAGGAGGCAGAGGCCACGAAGGCACACCACGCCCTGGAGCAGCCAGGCAGCCACCACCTCCACTCTGACCCTCTGTGTGTTCTT CTGTTTCCCATTTCTTCCTCCCATCTCACTCCTGCCTACTGTCTGTTCAATAGAACATTCTGAAGAGAACACAGCCTGGCTCCTCGGAGGAGGCAGAGGCCACGAAGGCACACCACGCCCTGGAGCAGGTAGGCAGCCACCACCTCCACTCTGACCCTCTGTGTGTTCTT control NA NA NA NA NA 3352 149 0.00776574 0.002154309 0.004960024 0.9887535 0.9931491 0.94993 0.9631515 NA NA -0.9421643 -0.9609972 0.9909513 0.9565408 NA -0.9515807 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00002445481 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002401582_000 ENSE00002401582 000 17 38192309 38192478 - 60 39 71 NA NA NA NA NA GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 NA NA NA NA NA NA GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG natural 1156 1401 0.848101 0.8342063 0.8411537 3936 2232 0.8505657 0.7586403 0.804603 0.848101 0.8342063 0.8505657 0.7586403 0 0 0 0 0.8411537 0.804603 0 0 0 FALSE FALSE NA NA NA NA NA MED24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED24 NA NA NA ENSG00000008838 ENSE00003759863 NA NA NA NA NA NA NA 8.989594e-09 FALSE NA ENSE00002401582_001 ENSE00002401582 001 17 38192309 38192478 - 60 39 71 G C 38192326 1732 153 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGAGAAGGCCCCGCCTCCTTG 40036055 40036225 40036072 40036073 40036073 downstr_intron 43 1.728814 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGAGAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 18 26 0.85 0.85 0.85 1800 131 0.9455449 0.8126564 0.8791006 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 0.01579366 0.09497924 0.05401605 0.8411537 0.804603 0.00884631 0.07449765 0.06565134 FALSE FALSE 0 -0.936 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA TGT G,C 8.236e-06 17:40036073 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 non_coding_transcript_exon_variant 0.733748 0.16294 0.07137 0.115753 0.7698899 0.0490131 8.989594e-09 FALSE 4.06441e-06 ENSE00002401582_002 ENSE00002401582 002 17 38192309 38192478 - 60 39 71 G A 38192330 1733 149 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGATAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036076 40036077 40036077 downstr_intron 39 1.661017 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGATAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant NA NA NA NA NA 1960 659 0.8104533 0.8091985 0.8098259 0.848101 0.8342063 0.8505657 0.7586403 NA NA -0.04011241 0.05055817 0.8411537 0.804603 NA 0.005222883 NA FALSE NA 0 -0.828 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA TGT G,A 8.236e-06 17:40036077 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 non_coding_transcript_exon_variant 0.52831 0.31555 0.1241 0.115753 0.7233777 0.0490131 8.989594e-09 FALSE 4.06355e-06 ENSE00002401582_003 ENSE00002401582 003 17 38192309 38192478 - 60 39 71 A G 38192340 1734 139 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGACTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036086 40036087 40036087 downstr_intron 29 1.491525 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGACTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 43 49 0.85 0.85 0.85 26 490 0.9446151 0.795927 0.8702711 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 0.01579366 0.09404943 0.03728671 0.8411537 0.804603 0.00884631 0.06566807 0.05682176 FALSE FALSE 0 -0.163 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA AAT A,G 5.765e-05 17:40036087 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 non_coding_transcript_exon_variant 0.233168 0.19806 0.05578 0.115753 0.3538171 0.0490131 8.989594e-09 FALSE 2.84363e-05 ENSE00002401582_004 ENSE00002401582 004 17 38192309 38192478 - 60 39 71 G C 38192351 1735 128 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTGAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036097 40036098 40036098 downstr_intron 18 1.305085 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTGAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 27 48 0.85 0.85 0.85 NA NA NA NA NA 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 0.01579366 NA NA 0.8411537 0.804603 0.00884631 NA NA NA FALSE 0 -0.454 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA TGA G,C 8.236e-06 17:40036098 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 non_coding_transcript_exon_variant -0.452948 0.16555 0.02745 0.115753 0.3138487 0.0490131 8.989594e-09 FALSE 4.06177e-06 ENSE00002401582_005 ENSE00002401582 005 17 38192309 38192478 - 60 39 71 G A 38192353 1736 126 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACATTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036099 40036100 40036100 downstr_intron 16 1.271186 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACATTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 71 37 0.85 0.820215 0.8351075 688 418 0.8249204 0.7966034 0.8107619 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 -0.01399138 -0.0256453 0.03796312 0.8411537 0.804603 -0.006046209 0.006158908 0.01220512 FALSE FALSE 0.021 1.597 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA AGT G,A 8.236e-06 17:40036100 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 non_coding_transcript_exon_variant 0.124771 0.27108 0.07159 0.115753 0.2456814 0.0490131 8.989594e-09 FALSE 8.12301e-06 ENSE00002401582_006 ENSE00002401582 006 17 38192309 38192478 - 60 39 71 T C 38192356 1737 123 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGGCACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036102 40036103 40036103 downstr_intron 13 1.220339 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGGCACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 43 44 0.85 0.85 0.85 426 762 0.8806246 0.8409516 0.8607881 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 0.01579366 0.03005889 0.0823113 0.8411537 0.804603 0.00884631 0.0561851 0.04733879 FALSE FALSE 0 -0.088 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA GTC T,C 1.647e-05 17:40036103 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 non_coding_transcript_exon_variant -0.437615 0.21624 0.00691 0.115753 0.2246154 0.0490131 8.989594e-09 FALSE 1.21826e-05 ENSE00002401582_007 ENSE00002401582 007 17 38192309 38192478 - 60 39 71 A G 38192372 1738 107 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGCAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036118 40036119 40036119 exon -4 0.9230769 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGCAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant NA NA NA NA NA 253 433 1 0.9920649 0.9960324 0.848101 0.8342063 0.8505657 0.7586403 NA NA 0.1494343 0.2334246 0.8411537 0.804603 NA 0.1914294 NA FALSE NA 1 0.765 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA TAC A,G 1.647e-05 17:40036119 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 splice_donor_variant 1.306724 0.9718 0.62639 0.67177 0.8225238 0 8.989594e-09 FALSE 8.1215e-06 ENSE00002401582_009 ENSE00002401582 009 17 38192309 38192478 - 60 39 71 G A 38192396 1740 83 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTATTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036142 40036143 40036143 exon 12 0.3076923 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTATTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant NA NA NA NA NA 1330 170 0.7983969 0.608427 0.7034119 0.848101 0.8342063 0.8505657 0.7586403 NA NA -0.05216881 -0.1502133 0.8411537 0.804603 NA -0.1011911 NA FALSE NA 1 2.216 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:40036143 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 synonymous_variant 0.684069 0.97669 0.86861 0.67177 0.9905729 0 8.989594e-09 FALSE 4.06075e-06 ENSE00002401582_010 ENSE00002401582 010 17 38192309 38192478 - 60 39 71 G C 38192396 1741 83 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTAGTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036142 40036143 40036143 exon 12 0.3076923 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTAGTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant NA NA NA NA NA 34 491 0.1836419 0.001030299 0.0923361 0.848101 0.8342063 0.8505657 0.7586403 NA NA -0.6669238 -0.75761 0.8411537 0.804603 NA -0.7122669 NA TRUE NA 1 2.216 NA NA NA MED24 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MED24 NA NA NA ENSG00000008838 ENSE00003759863 stop_gained 11.2884 0.9808 0.97204 0.67177 0.9947993 0 8.989594e-09 FALSE 4.06075e-06 ENSE00002401582_012 ENSE00002401582 012 17 38192309 38192478 - 60 39 71 C T 38192402 1743 77 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTATCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036148 40036149 40036149 exon 6 0.1538462 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTATCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 10 56 0 0 0 NA NA NA NA NA 0.848101 0.8342063 0.8505657 0.7586403 -0.848101 -0.8342063 NA NA 0.8411537 0.804603 -0.8411537 NA NA NA TRUE 1 1.363 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA ACA C,T 8.236e-06 17:40036149 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 synonymous_variant 2.419987 0.98672 0.96853 0.67177 0.9772602 0 8.989594e-09 FALSE 8.12163e-06 ENSE00002401582_013 ENSE00002401582 013 17 38192309 38192478 - 60 39 71 G A 38192411 1744 68 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTTCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036157 40036158 40036158 upstr_intron -4 -0.04225352 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTTCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant NA NA NA NA NA 1846 484 0.8375037 0.8 0.8187519 0.848101 0.8342063 0.8505657 0.7586403 NA NA -0.01306199 0.0413597 0.8411537 0.804603 NA 0.01414886 NA FALSE NA 0.207 0.087 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA GGA G,A 8.236e-06 17:40036158 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 splice_region_variant 1.382082 0.27676 0.14237 0.069865 0.6411457 0.344023 8.989594e-09 FALSE 4.06101e-06 ENSE00002401582_014 ENSE00002401582 014 17 38192309 38192478 - 60 39 71 C T 38192432 1745 47 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAAATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036178 40036179 40036179 upstr_intron -25 -0.3380282 GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAAATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant NA NA NA NA NA 284 291 0.9588352 0.9415592 0.9501972 0.848101 0.8342063 0.8505657 0.7586403 NA NA 0.1082695 0.1829189 0.8411537 0.804603 NA 0.1455942 NA FALSE NA 0 -0.255 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA TCT C,T 8.236e-06 17:40036179 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 intron_variant 0.091169 0.16816 0.06235 0.069865 0.2249007 0.10024 8.989594e-09 FALSE 8.12539e-06 ENSE00002401582_015 ENSE00002401582 015 17 38192309 38192478 - 60 39 71 C G 38192449 1746 30 GCATCAGTGTTTGTTCCTCTCAACTGTGGCAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036195 40036196 40036196 upstr_intron -42 -0.5774648 GCATCAGTGTTTGTTCCTCTCAACTGTGGCAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 17 104 0.85 0.85 0.85 123 199 0.8 0.8 0.8 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 0.01579366 -0.0505657 0.0413597 0.8411537 0.804603 0.00884631 -0.004603002 0.01344931 FALSE FALSE 0 -0.721 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 1 NA TCC C,G 8.237e-06 17:40036196 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 intron_variant 0.114082 0.20989 0.11307 0.069865 0.5479302 0.0484443 8.989594e-09 FALSE 4.06894e-06 ENSE00002401582_016 ENSE00002401582 016 17 38192309 38192478 - 60 39 71 C G 38192450 1747 29 GCATCAGTGTTTGTTCCTCTCAACTGTGCGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036196 40036197 40036197 upstr_intron -43 -0.5915493 GCATCAGTGTTTGTTCCTCTCAACTGTGCGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 14 25 0.85 0.85 0.85 NA NA NA NA NA 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 0.01579366 NA NA 0.8411537 0.804603 0.00884631 NA NA NA FALSE 0 -0.164 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 rs368229554 1 NA G:0.0002 G:0 CCC C,G 8.237e-06 17:40036197 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 intron_variant 0.079685 0.21882 0.0996 0.069865 0.5692193 0.0484443 8.989594e-09 FALSE 4.07017e-06 ENSE00002401582_017 ENSE00002401582 017 17 38192309 38192478 - 60 39 71 C T 38192451 1748 28 GCATCAGTGTTTGTTCCTCTCAACTGTAGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036197 40036198 40036198 upstr_intron -44 -0.6056338 GCATCAGTGTTTGTTCCTCTCAACTGTAGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 150 166 0.85 0.85 0.85 1083 208 0.8 0.9633271 0.8816636 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 0.01579366 -0.0505657 0.2046868 0.8411537 0.804603 0.00884631 0.07706057 0.06821426 FALSE FALSE 0 -0.528 rs191579759 upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 rs191579759 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 CCA C,T 1.647e-05 17:40036198 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 intron_variant -0.561627 0.16603 0.02688 0.069865 0.2871537 0.0484443 8.989594e-09 FALSE 8.14438e-06 ENSE00002401582_018 ENSE00002401582 018 17 38192309 38192478 - 60 39 71 T C 38192456 1749 23 GCATCAGTGTTTGTTCCTCTCAGCTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG 40036055 40036225 40036202 40036203 40036203 upstr_intron -49 -0.6760563 GCATCAGTGTTTGTTCCTCTCAGCTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG GCATCAGTGTTTGTTCCTCTCAACTGTGGGAGACTAGTTGTCTAAAGATTATCTTTCTTCCTTCTCTCCAGATGGTGTCCTACTCTTCTGTCCTCACAGCCATCAGTAAGGTATGACCATAGACACTCAGGAGCTAGATTGGGGATGACAGACAAGGCCCCGCCTCCTTG mutant 17 13 0.85 0.85 0.85 NA NA NA NA NA 0.848101 0.8342063 0.8505657 0.7586403 0.001898961 0.01579366 NA NA 0.8411537 0.804603 0.00884631 NA NA NA FALSE 0 -0.509 . upstream_gene_variant MODIFIER MED24 HGNC 22963 ENST00000584077 rs551852536 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTT T,C 8.236e-06 17:40036203 MED24 HGNC Symbol protein_coding 42118 ENSG00000008838 ENSE00003759863 intron_variant -0.056317 0.14078 0.02858 0.069865 0.485527 0.0484443 8.989594e-09 FALSE 4.07475e-06 ENSE00002401750_000 ENSE00002401750 000 6 80982805 80982974 + 47 87 36 NA NA NA NA NA TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 NA NA NA NA NA NA TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG natural 34 28 0.9962212 0.9966222 0.9964217 1787 3364 0.8819724 0.9258647 0.9039186 0.9962212 0.9966222 0.8819724 0.9258647 0 0 0 0 0.9964217 0.9039186 0 0 0 FALSE FALSE NA NA NA NA NA BCKDHB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCKDHB NA NA NA ENSG00000083123 ENSE00003497825 NA NA NA NA NA NA NA 2.910088e-06 FALSE NA ENSE00002401750_001 ENSE00002401750 001 6 80982805 80982974 + 47 87 36 C T 80982826 1896 22 TAAAATAGATATTCTTTTTAATATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273108 80273109 80273109 upstr_intron -26 -0.5319149 TAAAATAGATATTCTTTTTAATATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 223 1804 0.9971985 0.9942583 0.9957284 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1152261 0.06839362 0.9964217 0.9039186 NA 0.09180985 NA FALSE NA 0.018 0.386 . intron_variant&non_coding_transcript_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 2/2 1 NA ACA C,T 8.239e-06 6:80273109 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 intron_variant 0.257005 0.19544 0.03365 0.164513 0.5223437 0.0431032 2.910088e-06 FALSE 4.10108e-06 ENSE00002401750_002 ENSE00002401750 002 6 80982805 80982974 + 47 87 36 T C 80982833 1897 29 TAAAATAGATATTCTTTTTAACATCAGGCTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273115 80273116 80273116 upstr_intron -19 -0.3829787 TAAAATAGATATTCTTTTTAACATCAGGCTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 1808 850 0.9983019 1 0.999151 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1163295 0.07413527 0.9964217 0.9039186 NA 0.09523238 NA FALSE NA 0.001 -0.101 . intron_variant&non_coding_transcript_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 2/2 1 NA GTT T,C 8.237e-06 6:80273116 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 intron_variant -0.196044 0.26245 0.0405 0.294411 0.3827904 0.0431032 2.910088e-06 FALSE 4.08704e-06 ENSE00002401750_003 ENSE00002401750 003 6 80982805 80982974 + 47 87 36 C G 80982860 1898 56 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATGAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273142 80273143 80273143 exon 9 0.1034483 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATGAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 588 2226 0.9955189 0.9994141 0.9974665 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1135465 0.07354939 0.9964217 0.9039186 NA 0.09354792 NA FALSE NA 0.99 0.24 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 3/3 1 NA TCA C,G 8.236e-06 6:80273143 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 missense_variant 3.346922 0.97743 0.72194 0.693126 0.9585445 0 2.910088e-06 FALSE 4.07213e-06 ENSE00002401750_004 ENSE00002401750 004 6 80982805 80982974 + 47 87 36 A C 80982861 1899 57 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCCAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273143 80273144 80273144 exon 10 0.1149425 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCCAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 531 868 1 0.9988904 0.9994452 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1180276 0.07302566 0.9964217 0.9039186 NA 0.09552662 NA FALSE NA 1 7.414 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 3/3 rs372013960 1 NA C:0.0005 C:0 CAA A,C 1.647e-05 6:80273144 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 missense_variant 4.39225 0.99051 0.98627 0.693126 0.995723 0 2.910088e-06 FALSE 8.14319e-06 ENSE00002401750_005 ENSE00002401750 005 6 80982805 80982974 + 47 87 36 G T 80982869 1900 65 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGTCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273151 80273152 80273152 exon 18 0.2068966 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGTCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 255 493 0.985972 1 0.992986 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1039996 0.07413527 0.9964217 0.9039186 NA 0.08906743 NA FALSE NA 0.812 -0.057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:80273152 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 synonymous_variant 0.735801 0.96671 0.75611 0.693126 0.6693547 0 2.910088e-06 FALSE 1.62835e-05 ENSE00002401750_010 ENSE00002401750 010 6 80982805 80982974 + 47 87 36 A T 80982878 1905 74 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTTATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273160 80273161 80273161 exon 27 0.3103448 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTTATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 1464 1025 0.954337 0.9998457 0.9770913 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.07236454 0.07398094 0.9964217 0.9039186 NA 0.07317274 NA FALSE NA 0.907 -0.071 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:80273161 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 synonymous_variant -0.242469 0.94278 0.492 0.693126 0.6578016 0 2.910088e-06 FALSE 4.06974e-06 ENSE00002401750_011 ENSE00002401750 011 6 80982805 80982974 + 47 87 36 A C 80982878 1906 74 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTCATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273160 80273161 80273161 exon 27 0.3103448 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTCATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 1472 671 0.9994395 1 0.9997198 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1174671 0.07413527 0.9964217 0.9039186 NA 0.09580117 NA FALSE NA 0.907 -0.071 NA NA NA BCKDHB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCKDHB NA NA NA ENSG00000083123 ENSE00003497825 synonymous_variant -0.278344 0.94316 0.51655 0.693126 0.611739 0 2.910088e-06 FALSE 4.06974e-06 ENSE00002401750_012 ENSE00002401750 012 6 80982805 80982974 + 47 87 36 C T 80982887 1907 83 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCATGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273169 80273170 80273170 exon 36 0.4137931 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCATGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 758 2181 0.9911903 0.9989791 0.9950847 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1092178 0.07311437 0.9964217 0.9039186 NA 0.0911661 NA FALSE NA 0.037 -1.191 rs138670449 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 3/3 rs138670449 1 T:0.0024 T:0 T:0 NA T:0.002 T:0 T:0.0102 T:0.0005 T:0 ACG C,T 0.001466 6:80273170 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 synonymous_variant 1.923446 0.68483 0.02934 0.693126 0.4436046 0 2.910088e-06 FALSE 0.00134706 ENSE00002401750_013 ENSE00002401750 013 6 80982805 80982974 + 47 87 36 A G 80982889 1908 85 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGGGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273171 80273172 80273172 exon 38 0.4367816 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGGGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 788 375 0.9982637 1 0.9991319 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1162913 0.07413527 0.9964217 0.9039186 NA 0.09521328 NA FALSE NA 1 7.414 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 3/3 1 NA GAG A,G 8.236e-06 6:80273172 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 missense_variant 6.773291 0.99036 0.98527 0.693126 0.9992665 0 2.910088e-06 FALSE NA ENSE00002401750_014 ENSE00002401750 014 6 80982805 80982974 + 47 87 36 C T 80982896 1909 92 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCTTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273178 80273179 80273179 exon -43 0.5172414 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCTTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 747 1826 0.9842449 0.9976542 0.9909496 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1022724 0.07178952 0.9964217 0.9039186 NA 0.08703097 NA FALSE NA 0 -1.51 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 3/3 COSM301754 1 NA CCT C,T 8.236e-06 6:80273179 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 synonymous_variant 1.155504 0.89999 0.06664 0.693126 0.5757957 0 2.910088e-06 FALSE 4.06937e-06 ENSE00002401750_015 ENSE00002401750 015 6 80982805 80982974 + 47 87 36 T C 80982898 1910 94 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTCGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273180 80273181 80273181 exon -41 0.5402299 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTCGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 1597 1684 0.999265 0.9999774 0.9996212 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1172926 0.07411267 0.9964217 0.9039186 NA 0.09570263 NA FALSE NA 1 6.335 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 3/3 1 NA TTG T,C 8.236e-06 6:80273181 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 missense_variant 3.360312 0.99001 0.98427 0.693126 0.992654 0 2.910088e-06 FALSE 4.06928e-06 ENSE00002401750_018 ENSE00002401750 018 6 80982805 80982974 + 47 87 36 G C 80982925 1913 121 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCACCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273207 80273208 80273208 exon -14 0.8505747 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCACCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 148 799 1 0.9987519 0.999376 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1180276 0.07288718 0.9964217 0.9039186 NA 0.09545738 NA FALSE NA 1 7.791 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:80273208 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 missense_variant 2.716872 0.99275 0.99163 0.693126 0.9845006 0 2.910088e-06 FALSE 8.14399e-06 ENSE00002401750_019 ENSE00002401750 019 6 80982805 80982974 + 47 87 36 G T 80982925 1914 121 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCATCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273207 80273208 80273208 exon -14 0.8505747 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCATCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 1225 3920 0.9995382 0.9622361 0.9808872 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1175658 0.03637139 0.9964217 0.9039186 NA 0.07696859 NA FALSE NA 1 7.791 NA NA NA BCKDHB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCKDHB NA NA NA ENSG00000083123 ENSE00003497825 missense_variant 3.408369 0.99263 0.9912 0.693126 0.9849544 0 2.910088e-06 FALSE 8.14399e-06 ENSE00002401750_021 ENSE00002401750 021 6 80982805 80982974 + 47 87 36 C T 80982931 1916 127 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTATAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273213 80273214 80273214 exon -8 0.9195402 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTATAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 996 1675 0.9945703 0.9937664 0.9941683 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1125978 0.06790164 0.9964217 0.9039186 NA 0.09024974 NA FALSE NA 1 6.164 . downstream_gene_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 1 NA ACA C,T 8.237e-06 6:80273214 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 missense_variant 2.3198 0.99012 0.98374 0.693126 0.9798343 0 2.910088e-06 FALSE 1.22183e-05 ENSE00002401750_022 ENSE00002401750 022 6 80982805 80982974 + 47 87 36 A T 80982932 1917 128 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACTGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273214 80273215 80273215 exon -7 0.9310345 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACTGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 668 847 0.9786827 0.9924217 0.9855522 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.09671027 0.06655695 0.9964217 0.9039186 NA 0.08163361 NA FALSE NA 0.668 -0.467 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:80273215 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 synonymous_variant -1.177474 0.92974 0.23449 0.693126 0.4835301 0 2.910088e-06 FALSE 2.85114e-05 ENSE00002401750_023 ENSE00002401750 023 6 80982805 80982974 + 47 87 36 A G 80982932 1918 128 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACGGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273214 80273215 80273215 exon -7 0.9310345 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACGGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 167 1183 1 0.9986004 0.9993002 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1180276 0.0727357 0.9964217 0.9039186 NA 0.09538164 NA FALSE NA 0.668 -0.467 NA NA NA BCKDHB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCKDHB NA NA NA ENSG00000083123 ENSE00003497825 synonymous_variant -0.848366 0.92662 0.17169 0.693126 0.4451558 0 2.910088e-06 FALSE 1.22192e-05 ENSE00002401750_024 ENSE00002401750 024 6 80982805 80982974 + 47 87 36 T C 80982940 1919 136 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGCAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273222 80273223 80273223 downstr_intron 2 1.057143 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGCAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 305 274 0.1820662 0.1724807 0.1772734 0.9962212 0.9966222 0.8819724 0.9258647 NA NA -0.6999062 -0.753384 0.9964217 0.9039186 NA -0.7266451 NA TRUE NA 1 6.291 . downstream_gene_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 1 NA GTA T,C 1.647e-05 6:80273223 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 splice_donor_variant 3.777029 0.98974 0.98833 0.074636 0.9859817 0.942993 2.910088e-06 FALSE 4.07544e-06 ENSE00002401750_025 ENSE00002401750 025 6 80982805 80982974 + 47 87 36 A T 80982943 1920 139 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGTGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273225 80273226 80273226 downstr_intron 5 1.142857 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGTGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 1108 1517 0.9988917 0.9995219 0.9992068 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1169193 0.07365719 0.9964217 0.9039186 NA 0.09528824 NA FALSE NA 0.001 0.077 . downstream_gene_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 rs569868468 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GAG A,T 9.884e-05 6:80273226 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 splice_region_variant -0.671861 0.14517 0.0238 0.074636 0.3143012 0.0519635 2.910088e-06 FALSE 6.52236e-05 ENSE00002401750_026 ENSE00002401750 026 6 80982805 80982974 + 47 87 36 T C 80982951 1921 147 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTCTGGAACTGATTTCAATGCTTGTG 80273087 80273257 80273233 80273234 80273234 downstr_intron 13 1.371429 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTCTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 533 448 1 1 1 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1180276 0.07413527 0.9964217 0.9039186 NA 0.09608142 NA FALSE NA 0 -0.988 . downstream_gene_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 1 NA TTT T,C 4.942e-05 6:80273234 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 intron_variant -0.055664 0.26211 0.05221 0.074636 0.3381381 0.0447689 2.910088e-06 FALSE 2.03945e-05 ENSE00002401750_027 ENSE00002401750 027 6 80982805 80982974 + 47 87 36 T C 80982958 1922 154 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACCGATTTCAATGCTTGTG 80273087 80273257 80273240 80273241 80273241 downstr_intron 20 1.571429 TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACCGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG mutant NA NA NA NA NA 1287 88 0.9984126 0.9602757 0.9793442 0.9962212 0.9966222 0.8819724 0.9258647 NA NA 0.1164402 0.03441101 0.9964217 0.9039186 NA 0.07542562 NA FALSE NA 0 -1.34 . downstream_gene_variant MODIFIER BCKDHB HGNC 987 ENST00000468520 1 NA CTG T,C 8.238e-06 6:80273241 BCKDHB HGNC Symbol protein_coding 239623 ENSG00000083123 ENSE00003497825 intron_variant -0.03008 0.18096 0.01637 0.074636 0.4026642 0.0447689 2.910088e-06 FALSE 1.22499e-05 ENSE00002401750_BRK ENSE00002401750 BRK 6 80982805 80982974 + 47 87 36 A,G; T,T NA NA NA TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCTTTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGCCAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG 80273087 80273257 NA NA NA NA NA NA TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCTTTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGCCAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG TAAAATAGATATTCTTTTTAACATCAGGTTTTTCTTTTCTCTTTCAGTCTGTGATCAAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGTAGAGTAATTTTTGGAACTGATTTCAATGCTTGTG control NA NA NA NA NA 879 869 0.1302383 0.0003681469 0.06530323 0.9962212 0.9966222 0.8819724 0.9258647 NA NA -0.7517341 -0.9254966 0.9964217 0.9039186 NA -0.8386154 NA TRUE NA NA NA NA NA NA BCKDHB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA BCKDHB NA NA NA ENSG00000083123 ENSE00003497825 NA NA NA NA NA NA NA 2.910088e-06 FALSE NA ENSE00002401780_000 ENSE00002401780 000 6 35046294 35046463 + 41 99 30 NA NA NA NA NA GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 NA NA NA NA NA NA CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC natural 61 53 0.987706 0.9686698 0.9781879 459 225 0.9849325 0.9934859 0.9892092 0.987706 0.9686698 0.9849325 0.9934859 0 0 0 0 0.9781879 0.9892092 0 0 0 FALSE FALSE NA NA NA NA NA ANKS1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKS1A NA NA NA ENSG00000064999 ENSE00003648748 NA NA NA NA NA NA NA 0.8468597 FALSE NA ENSE00002401780_004 ENSE00002401780 004 6 35046294 35046463 + 41 99 30 C A 35046325 1049 32 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCATAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078547 35078548 35078548 upstr_intron -10 -0.2195122 CCATCCAGGAGGGGCCCTGACATCCACCTTTATGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 1188 110 0.9989561 1 0.9994781 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.0140236 0.00651408 0.9781879 0.9892092 NA 0.01026884 NA FALSE NA 0.037 -0.386 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA TCT C,A 1.647e-05 6:35078548 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 intron_variant 0.627873 0.19391 0.0763 0.099367 0.8195668 0.1742 0.8468597 FALSE 1.23056e-05 ENSE00002401780_007 ENSE00002401780 007 6 35046294 35046463 + 41 99 30 T C 35046338 1052 45 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGGCCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078560 35078561 35078561 exon 4 0.04040404 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGCCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 1130 1468 0.9998542 0.998492 0.9991731 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01492172 0.005006083 0.9781879 0.9892092 NA 0.009963902 NA FALSE NA 0.094 0.286 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA GTC T,C 1.647e-05 6:35078561 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 1.963907 0.697 0.18201 0.706298 0.9909964 0 0.8468597 FALSE NA ENSE00002401780_010 ENSE00002401780 010 6 35046294 35046463 + 41 99 30 G A 35046366 1055 73 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCTGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078588 35078589 35078589 exon 32 0.3232323 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCAGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 80 202 1 0.9840102 0.9920051 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 -0.009475754 0.9781879 0.9892092 NA 0.002795867 NA FALSE NA 1 2.551 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA CGG G,A 8.237e-06 6:35078589 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 5.108717 0.96991 0.8758 0.706298 0.9990796 0 0.8468597 FALSE 1.23701e-05 ENSE00002401780_011 ENSE00002401780 011 6 35046294 35046463 + 41 99 30 C T 35046382 1056 89 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCACTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078604 35078605 35078605 exon 48 0.4848485 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGTGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 52 100 1 1 1 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.00651408 0.9781879 0.9892092 NA 0.01079078 NA FALSE NA 0 -2.392 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA GCG C,T 1.647e-05 6:35078605 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 synonymous_variant 1.277001 0.85251 0.01923 0.706298 0.6238727 0 0.8468597 FALSE 2.4888e-05 ENSE00002401780_013 ENSE00002401780 013 6 35046294 35046463 + 41 99 30 C A 35046389 1058 96 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTTTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078611 35078612 35078612 exon -45 0.5555556 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCAAAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 208 444 1 1 1 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.00651408 0.9781879 0.9892092 NA 0.01079078 NA FALSE NA 0.996 3.16 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 rs572349132 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ACA C,A 8.237e-06 6:35078612 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 3.068937 0.97018 0.89269 0.706298 0.9784169 0 0.8468597 FALSE 4.15883e-06 ENSE00002401780_014 ENSE00002401780 014 6 35046294 35046463 + 41 99 30 C A 35046392 1059 99 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTTCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078614 35078615 35078615 exon -42 0.5858586 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGAACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 64 26 1 1 1 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.00651408 0.9781879 0.9892092 NA 0.01079078 NA FALSE NA 1 7.698 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA GCA C,A 8.237e-06 6:35078615 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 6.252796 0.99273 0.99218 0.706298 0.9906566 0 0.8468597 FALSE 4.16406e-06 ENSE00002401780_015 ENSE00002401780 015 6 35046294 35046463 + 41 99 30 C A 35046395 1060 102 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCTGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078617 35078618 35078618 exon -39 0.6161616 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACAGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 19 494 0.95 1 0.975 0.987706 0.9686698 0.9849325 0.9934859 NA NA -0.03493251 0.00651408 0.9781879 0.9892092 NA -0.01420922 NA FALSE NA 1 3.155 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA CCG C,A 8.237e-06 6:35078618 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 synonymous_variant 2.762181 0.973 0.8298 0.706298 0.5583003 0 0.8468597 FALSE 4.16976e-06 ENSE00002401780_018 ENSE00002401780 018 6 35046294 35046463 + 41 99 30 G A 35046399 1063 106 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCTGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078621 35078622 35078622 exon -35 0.6565657 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCAGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 548 17 0.9941771 1 0.9970886 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.009244632 0.00651408 0.9781879 0.9892092 NA 0.007879356 NA FALSE NA 1 3.981 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 rs368743434 1 NA A:0 A:0.0002 CGG G,A 6.59e-05 6:35078622 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 2.324458 0.97709 0.88501 0.706298 0.9843758 0 0.8468597 FALSE 6.26734e-05 ENSE00002401780_019 ENSE00002401780 019 6 35046294 35046463 + 41 99 30 G T 35046400 1064 107 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTACGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078622 35078623 35078623 exon -34 0.6666667 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGTAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 15 168 1 1 1 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.00651408 0.9781879 0.9892092 NA 0.01079078 NA FALSE NA 1 2.317 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA GGA G,T 1.647e-05 6:35078623 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 synonymous_variant 0.339741 0.97474 0.94669 0.706298 0.5780962 0 0.8468597 FALSE NA ENSE00002401780_020 ENSE00002401780 020 6 35046294 35046463 + 41 99 30 G C 35046403 1065 110 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGGTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078625 35078626 35078626 exon -31 0.6969697 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAACCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 381 2876 1 0.9945597 0.9972799 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.001073808 0.9781879 0.9892092 NA 0.008070648 NA FALSE NA 1 1.558 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA AGC G,C 8.237e-06 6:35078626 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 5.741238 0.97546 0.95164 0.706298 0.9986285 0 0.8468597 FALSE 4.18908e-06 ENSE00002401780_021 ENSE00002401780 021 6 35046294 35046463 + 41 99 30 G A 35046406 1066 113 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGTAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078628 35078629 35078629 exon -28 0.7272727 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTACTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 216 680 1 0.9924836 0.9962418 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 -0.001002359 0.9781879 0.9892092 NA 0.007032564 NA FALSE NA 0.999 0.495 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA TGC G,A 8.237e-06 6:35078629 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 synonymous_variant 0.861427 0.9625 0.81853 0.706298 0.6945212 0 0.8468597 FALSE 4.19456e-06 ENSE00002401780_022 ENSE00002401780 022 6 35046294 35046463 + 41 99 30 C T 35046414 1067 121 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCACCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078636 35078637 35078637 exon -20 0.8080808 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGTGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 674 280 0.9947288 1 0.9973644 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.009796257 0.00651408 0.9781879 0.9892092 NA 0.008155168 NA FALSE NA 1 4.866 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:35078637 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 7.413785 0.98694 0.95759 0.706298 0.9993402 0 0.8468597 FALSE 1.68398e-05 ENSE00002401780_023 ENSE00002401780 023 6 35046294 35046463 + 41 99 30 C A 35046414 1068 121 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCCTCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078636 35078637 35078637 exon -20 0.8080808 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGAGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 868 687 1 0.9992129 0.9996064 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.005726943 0.9781879 0.9892092 NA 0.01039722 NA FALSE NA 1 4.866 NA NA NA ANKS1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKS1A NA NA NA ENSG00000064999 ENSE00003648748 missense_variant 7.328391 0.98814 0.95461 0.706298 0.9946609 0 0.8468597 FALSE 4.20996e-06 ENSE00002401780_024 ENSE00002401780 024 6 35046294 35046463 + 41 99 30 G A 35046415 1069 122 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGCTGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078637 35078638 35078638 exon -19 0.8181818 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCAGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 327 259 1 1 1 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.00651408 0.9781879 0.9892092 NA 0.01079078 NA FALSE NA 0 -3.526 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 rs377225487&COSM3430564&COSM3430565 1 NA A:0 A:0.0001 CGG G,A 2.471e-05 6:35078638 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 synonymous_variant 1.493171 0.52069 0.02094 0.706298 0.7499236 0 0.8468597 FALSE 1.26322e-05 ENSE00002401780_025 ENSE00002401780 025 6 35046294 35046463 + 41 99 30 G T 35046416 1070 123 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGCGTGACGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078638 35078639 35078639 exon -18 0.8282828 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGTCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 253 774 0.9975683 1 0.9987841 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01263577 0.00651408 0.9781879 0.9892092 NA 0.009574926 NA FALSE NA 1 7.804 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA GGC G,T 0.0001483 6:35078639 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 3.108145 0.98753 0.9885 0.706298 0.9973389 0 0.8468597 FALSE 7.1597e-05 ENSE00002401780_027 ENSE00002401780 027 6 35046294 35046463 + 41 99 30 G A 35046420 1072 127 GGCTGAGGCTACAGGGCCGGCGATGGTCACCTTGGGTAGGGAGTGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078642 35078643 35078643 exon -14 0.8686869 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACACTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 515 112 0.8396297 1 0.9198149 0.987706 0.9686698 0.9849325 0.9934859 NA NA -0.1453028 0.00651408 0.9781879 0.9892092 NA -0.06939435 NA FALSE NA 1 4.579 rs140739340 intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 rs140739340&COSM451337&COSM451338 1 NA A:0.0002 A:0 CGC G,A 8.239e-06 6:35078643 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 missense_variant 3.994739 0.97279 0.93704 0.706298 0.9973847 0 0.8468597 FALSE NA ENSE00002401780_028 ENSE00002401780 028 6 35046294 35046463 + 41 99 30 G T 35046436 1073 143 GGCTGAGGCTACAGGGCCGGCGATGGTAACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078658 35078659 35078659 downstr_intron 3 1.103448 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTTACCATCGCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 144 63 1 1 1 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.00651408 0.9781879 0.9892092 NA 0.01079078 NA FALSE NA 1 0.487 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA TGA G,T 8.245e-06 6:35078659 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 splice_region_variant 0.649689 0.94191 0.66463 0.162113 0.6562516 0.374102 0.8468597 FALSE 1.27379e-05 ENSE00002401780_031 ENSE00002401780 031 6 35046294 35046463 + 41 99 30 G C 35046443 1076 150 GGCTGAGGCTACAGGGCCGGGGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078665 35078666 35078666 downstr_intron 10 1.344828 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCCCCGGCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 276 51 1 1 1 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.00651408 0.9781879 0.9892092 NA 0.01079078 NA FALSE NA 0 -2.187 NA NA NA ANKS1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:35078666 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 intron_variant -0.659951 0.11424 0.00756 0.062308 0.4767931 0.0726018 0.8468597 FALSE 0.00100446 ENSE00002401780_035 ENSE00002401780 035 6 35046294 35046463 + 41 99 30 G T 35046447 1080 154 GGCTGAGGCTACAGGGACGGCGATGGTCACCTTGGGTAGGGAGCGTGCCGCCTGGAGCAGCTTCCGCCGGTGCTGTGGGTCGCTGATGCCGATGTCCCGCAGGTCCTGCTCTTCCATCACATTAGACCCCTGAGAGCAGAAAGGTGGATGTCAGGGCCCCTCCTGGATGG 35078516 35078686 35078669 35078670 35078670 downstr_intron 14 1.482759 CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGTCCCTGTAGCCTCAGCC CCATCCAGGAGGGGCCCTGACATCCACCTTTCTGCTCTCAGGGGTCTAATGTGATGGAAGAGCAGGACCTGCGGGACATCGGCATCAGCGACCCACAGCACCGGCGGAAGCTGCTCCAGGCGGCACGCTCCCTACCCAAGGTGACCATCGCCGGCCCTGTAGCCTCAGCC mutant NA NA NA NA NA 241 621 1 0.998328 0.999164 0.987706 0.9686698 0.9849325 0.9934859 NA NA 0.01506749 0.004842078 0.9781879 0.9892092 NA 0.009954783 NA FALSE NA 0.267 0.872 . intron_variant MODIFIER ANKS1A HGNC 20961 ENST00000535627 6/6 1 NA GGC G,T 8.25e-06 6:35078670 ANKS1A HGNC Symbol protein_coding 202148 ENSG00000064999 ENSE00003648748 intron_variant 0.110531 0.32823 0.0322 0.062308 0.6779305 0.0735868 0.8468597 FALSE 1.27899e-05 ENSE00002401940_000 ENSE00002401940 000 7 99797815 99797984 + 44 93 33 NA NA NA NA NA TTGGTGTGATGCAGAGTGGAGGGGCAGCGGTACCTTGGCCAGGAGCTGGGGCAGCAGGGGGATGAGGTGCTCAGTCAACTTCACCCTGTCATCGGCTTGGGTCTTGCGCTCCTTAGAGGTTAAGCCCTGGAATGAGAGTCACTTGGGGGTGGGGGAGGTGTAAAGAAACA 100200191 100200361 NA NA NA NA NA NA TGTTTCTTTACACCTCCCCCACCCCCAAGTGACTCTCATTCCAGGGCTTAACCTCTAAGGAGCGCAAGACCCAAGCCGATGACAGGGTGAAGTTGACTGAGCACCTCATCCCCCTGCTGCCCCAGCTCCTGGCCAAGGTACCGCTGCCCCTCCACTCTGCATCACACCAA TGTTTCTTTACACCTCCCCCACCCCCAAGTGACTCTCATTCCAGGGCTTAACCTCTAAGGAGCGCAAGACCCAAGCCGATGACAGGGTGAAGTTGACTGAGCACCTCATCCCCCTGCTGCCCCAGCTCCTGGCCAAGGTACCGCTGCCCCTCCACTCTGCATCACACCAA natural 20 17 0.85 0.85 0.85 20 15 0.9320991 0.9623624 0.9472308 0.85 0.85 0.9320991 0.9623624 0 0 0 0 0.85 0.9472308 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003487572 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00002402310_000 ENSE00002402310 000 17 72246360 72246529 + 44 93 33 NA NA NA NA NA TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 NA NA NA NA NA NA TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG natural 37 67 0.99467 0.9903261 0.992498 1246 1126 0.8148541 0.9851635 0.9000088 0.99467 0.9903261 0.8148541 0.9851635 0 0 0 0 0.992498 0.9000088 0 0 0 FALSE FALSE NA NA NA NA NA TTYH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTYH2 NA NA NA ENSG00000141540 ENSE00003471025 NA NA NA NA NA NA NA 0.3479615 FALSE NA ENSE00002402310_001 ENSE00002402310 001 17 72246360 72246529 + 44 93 33 C G 72246371 2904 12 TCCTCCACAGCGCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250231 74250232 74250232 upstr_intron -33 -0.7272727 TCCTCCACAGCGCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 504 56 0.9180345 1 0.9590173 0.99467 0.9903261 0.8148541 0.9851635 NA NA 0.1031805 0.01483646 0.992498 0.9000088 NA 0.05900847 NA FALSE NA 0 -0.32 . intron_variant MODIFIER TTYH2 HGNC 13877 ENST00000269346 9/13 rs369690684 1 NA G:0.0002 G:0 CCC C,G 1.748e-05 17:74250232 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 intron_variant 0.141782 0.2283 0.0444 0.078448 0.6057216 0.0477034 0.3479615 FALSE 2.21929e-05 ENSE00002402310_002 ENSE00002402310 002 17 72246360 72246529 + 44 93 33 C T 72246373 2905 14 TCCTCCACAGCCCTTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250233 74250234 74250234 upstr_intron -31 -0.6818182 TCCTCCACAGCCCTTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 120 358 1 0.9582067 0.9791034 0.99467 0.9903261 0.8148541 0.9851635 NA NA 0.1851459 -0.02695681 0.992498 0.9000088 NA 0.07909456 NA FALSE NA 0 -0.064 . intron_variant MODIFIER TTYH2 HGNC 13877 ENST00000269346 9/13 1 NA CCT C,T 4.488e-05 17:74250234 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 intron_variant 0.424997 0.19209 0.01994 0.078448 0.5947948 0.0477034 0.3479615 FALSE 4.53345e-05 ENSE00002402310_003 ENSE00002402310 003 17 72246360 72246529 + 44 93 33 C T 72246375 2906 16 TCCTCCACAGCCCCTTGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250235 74250236 74250236 upstr_intron -29 -0.6363636 TCCTCCACAGCCCCTTGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant 15 87 0.8125722 0.9038544 0.8582133 36 699 0.9988512 0.8681191 0.9334852 0.99467 0.9903261 0.8148541 0.9851635 -0.1820978 -0.08647167 0.1839971 -0.1170444 0.992498 0.9000088 -0.1342847 0.03347637 0.1677611 FALSE FALSE 0 0.205 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:74250236 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 intron_variant 0.337994 0.19601 0.01987 0.078448 0.4868808 0.0841351 0.3479615 FALSE 1.68963e-05 ENSE00002402310_004 ENSE00002402310 004 17 72246360 72246529 + 44 93 33 C A 72246375 2907 16 TCCTCCACAGCCCCTAGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250235 74250236 74250236 upstr_intron -29 -0.6363636 TCCTCCACAGCCCCTAGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant 17 60 0.85 0.85 0.85 NA NA NA NA NA 0.99467 0.9903261 0.8148541 0.9851635 -0.14467 -0.1403261 NA NA 0.992498 0.9000088 -0.142498 NA NA NA FALSE 0 0.205 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTYH2 NA NA NA ENSG00000141540 ENSE00003471025 intron_variant 0.474016 0.25366 0.15586 0.078448 0.5311963 0.0841351 0.3479615 FALSE 8.44813e-05 ENSE00002402310_007 ENSE00002402310 007 17 72246360 72246529 + 44 93 33 G T 72246376 2910 17 TCCTCCACAGCCCCTCTGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250236 74250237 74250237 upstr_intron -28 -0.6136364 TCCTCCACAGCCCCTCTGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 19 94 0.95 1 0.975 0.99467 0.9903261 0.8148541 0.9851635 NA NA 0.1351459 0.01483646 0.992498 0.9000088 NA 0.0749912 NA FALSE NA 0 -0.513 NA NA NA TTYH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:74250237 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 intron_variant -0.041844 0.13253 0.00124 0.162113 0.4842079 0.0477034 0.3479615 FALSE NA ENSE00002402310_008 ENSE00002402310 008 17 72246360 72246529 + 44 93 33 C T 72246385 2911 26 TCCTCCACAGCCCCTCGGCCTCTCTTGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250245 74250246 74250246 upstr_intron -19 -0.4090909 TCCTCCACAGCCCCTCGGCCTCTCTTGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 97 78 0.9153363 0.9251305 0.9202334 0.99467 0.9903261 0.8148541 0.9851635 NA NA 0.1004822 -0.060033 0.992498 0.9000088 NA 0.0202246 NA FALSE NA 0 -1 . intron_variant MODIFIER TTYH2 HGNC 13877 ENST00000269346 9/13 1 NA TCG A,T 9.688e-05 17:74250246 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 intron_variant -0.190114 0.09976 0.02216 0.162113 0.8354709 0.0882513 0.3479615 FALSE 4.34888e-05 ENSE00002402310_009 ENSE00002402310 009 17 72246360 72246529 + 44 93 33 G T 72246386 2912 27 TCCTCCACAGCCCCTCGGCCTCTCTCTCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250246 74250247 74250247 upstr_intron -18 -0.3863636 TCCTCCACAGCCCCTCGGCCTCTCTCTCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 127 235 1 0.9960162 0.9980081 0.99467 0.9903261 0.8148541 0.9851635 NA NA 0.1851459 0.01085264 0.992498 0.9000088 NA 0.09799929 NA FALSE NA 0 -0.514 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:74250247 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 intron_variant -0.200861 0.10815 0.00077 0.162113 0.3170969 0.0882513 0.3479615 FALSE 0.0107982 ENSE00002402310_010 ENSE00002402310 010 17 72246360 72246529 + 44 93 33 G A 72246386 2913 27 TCCTCCACAGCCCCTCGGCCTCTCTCACTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250246 74250247 74250247 upstr_intron -18 -0.3863636 TCCTCCACAGCCCCTCGGCCTCTCTCACTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 1275 652 0.9786719 0.9783784 0.9785251 0.99467 0.9903261 0.8148541 0.9851635 NA NA 0.1638179 -0.006785171 0.992498 0.9000088 NA 0.07851634 NA FALSE NA 0 -0.514 NA NA NA TTYH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTYH2 NA NA NA ENSG00000141540 ENSE00003471025 intron_variant -0.025864 0.1438 0.01967 0.162113 0.9076307 0.0882513 0.3479615 FALSE 8.64551e-06 ENSE00002402310_014 ENSE00002402310 014 17 72246360 72246529 + 44 93 33 A G 72246419 2917 60 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAGTCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250279 74250280 74250280 exon 16 0.172043 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAGTCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 250 674 0.8097407 0.8006427 0.8051917 0.99467 0.9903261 0.8148541 0.9851635 NA NA -0.005113341 -0.1845208 0.992498 0.9000088 NA -0.09481706 NA FALSE NA 0.997 3.418 . missense_variant MODERATE TTYH2 HGNC 13877 ENST00000269346 10/14 1 tolerated(0.67) benign(0.016) NA AAT A,G 8.236e-06 17:74250280 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 missense_variant 0.529112 0.94775 0.89232 0.700653 0.7417122 0 0.3479615 FALSE NA ENSE00002402310_017 ENSE00002402310 017 17 72246360 72246529 + 44 93 33 C T 72246452 2920 93 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCTTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250312 74250313 74250313 exon -45 0.5268817 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCTTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant 31 31 0.85 0.85 0.85 NA NA NA NA NA 0.99467 0.9903261 0.8148541 0.9851635 -0.14467 -0.1403261 NA NA 0.992498 0.9000088 -0.142498 NA NA NA FALSE 1 3.317 rs146342198 missense_variant MODERATE TTYH2 HGNC 13877 ENST00000269346 10/14 rs146342198 1 tolerated(0.12) benign(0.173) NA T:0 T:0.0001 CCT C,T 8.237e-06 17:74250313 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 missense_variant 1.222074 0.98374 0.92371 0.646311 0.842423 0 0.3479615 FALSE 4.08287e-06 ENSE00002402310_019 ENSE00002402310 019 17 72246360 72246529 + 44 93 33 C T 72246466 2922 107 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACTGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250326 74250327 74250327 exon -31 0.6774194 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACTGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant 38 77 0.9000111 0.85 0.8750055 NA NA NA NA NA 0.99467 0.9903261 0.8148541 0.9851635 -0.09465887 -0.1403261 NA NA 0.992498 0.9000088 -0.1174925 NA NA NA FALSE 0 -4.328 rs7224615 synonymous_variant LOW TTYH2 HGNC 13877 ENST00000269346 10/14 rs7224615&COSM148334 1 T:0.3556 T:0.5499 T:0.2954 NA T:0.1101 T:0.3588 T:0.3855 T:0.5304 T:0.4022 CCG C,T 0.369 17:74250327 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 synonymous_variant 0.866763 0.27131 0.0172 0.646311 0.6370827 0 0.3479615 FALSE 0.364917 ENSE00002402310_020 ENSE00002402310 020 17 72246360 72246529 + 44 93 33 G A 72246467 2923 108 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCACCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250327 74250328 74250328 exon -30 0.688172 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCACCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 153 168 0.799599 0.8053518 0.8024754 0.99467 0.9903261 0.8148541 0.9851635 NA NA -0.01525509 -0.1798118 0.992498 0.9000088 NA -0.09753342 NA FALSE NA 1 8.675 . missense_variant MODERATE TTYH2 HGNC 13877 ENST00000269346 10/14 1 deleterious(0) probably_damaging(0.991) NA CGC G,A 1.647e-05 17:74250328 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 missense_variant 5.38772 0.98818 0.98549 0.646311 0.9978211 0 0.3479615 FALSE NA ENSE00002402310_022 ENSE00002402310 022 17 72246360 72246529 + 44 93 33 T G 72246479 2925 120 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACGGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250339 74250340 74250340 exon -18 0.8172043 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACGGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant 13 27 0.85 0.85 0.85 350 61 0.8 0.8 0.8 0.99467 0.9903261 0.8148541 0.9851635 -0.14467 -0.1403261 -0.01485407 -0.1851635 0.992498 0.9000088 -0.142498 -0.1000088 0.0424892 FALSE FALSE 1 7.067 . missense_variant MODERATE TTYH2 HGNC 13877 ENST00000269346 10/14 1 deleterious(0) probably_damaging(0.94) NA CTG T,G 8.237e-06 17:74250340 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 missense_variant 5.495439 0.99078 0.98455 0.646311 0.9745267 0 0.3479615 FALSE 4.10678e-06 ENSE00002402310_024 ENSE00002402310 024 17 72246360 72246529 + 44 93 33 G A 72246499 2927 140 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTACATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 74250359 74250360 74250360 downstr_intron 3 1.09375 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTACATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant NA NA NA NA NA 1036 80 0.998963 0.9812345 0.9900987 0.99467 0.9903261 0.8148541 0.9851635 NA NA 0.1841089 -0.003929062 0.992498 0.9000088 NA 0.09008992 NA FALSE NA 0.794 0.353 . splice_region_variant&intron_variant LOW TTYH2 HGNC 13877 ENST00000269346 10/13 1 NA TGC G,A 8.238e-06 17:74250360 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 splice_region_variant 0.259515 0.30806 0.08761 0.056701 0.6564995 0.240695 0.3479615 FALSE NA ENSE00002402310_025 ENSE00002402310 025 17 72246360 72246529 + 44 93 33 G A 72246512 2928 153 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTAGGGTCACGTGGAGAGTG 74250220 74250390 74250372 74250373 74250373 downstr_intron 16 1.5 TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTAGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG mutant 87 83 0.85 0.85 0.85 23 43 0.8 0.8 0.8 0.99467 0.9903261 0.8148541 0.9851635 -0.14467 -0.1403261 -0.01485407 -0.1851635 0.992498 0.9000088 -0.142498 -0.1000088 0.0424892 FALSE FALSE 0.009 0.04 . intron_variant MODIFIER TTYH2 HGNC 13877 ENST00000269346 10/13 1 NA TGG G,A 1.648e-05 17:74250373 TTYH2 HGNC Symbol protein_coding 48506 ENSG00000141540 ENSE00003471025 non_coding_transcript_exon_variant 0.157127 0.12668 0.05052 0.056701 0.7878794 0.0634861 0.3479615 FALSE 2.94657e-05 ENSE00002402310_BRK ENSE00002402310 BRK 17 72246360 72246529 + 44 93 33 A,G; T,T NA NA NA TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCTTGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGCCGCATGGGGACCCTGGGGTCACGTGGAGAGTG 74250220 74250390 NA NA NA NA NA NA TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCTTGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGCCGCATGGGGACCCTGGGGTCACGTGGAGAGTG TCCTCCACAGCCCCTCGGCCTCTCTCGCTCTCTTCCCGCTTCAGGAAGACCTGCTTGCAATCCAGCTCCTGCTGAACTCCTCAGAGTCCAGCCTTCACCAGCTGACCGCCATGGTGGACTGCCGAGGGCTGCACAAGGTGCATGGGGACCCTGGGGTCACGTGGAGAGTG control 83 69 0.8776194 0.85 0.8638097 NA NA NA NA NA 0.99467 0.9903261 0.8148541 0.9851635 -0.1170505 -0.1403261 NA NA 0.992498 0.9000088 -0.1286883 NA NA NA FALSE NA NA NA NA NA TTYH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TTYH2 NA NA NA ENSG00000141540 ENSE00003471025 NA NA NA NA NA NA NA 0.3479615 FALSE NA ENSE00002402321_000 ENSE00002402321 000 17 20356276 20356445 - 54 51 65 NA NA NA NA NA CTGGTGGGAGCTGGGGTGGTCTTTACTCAGGAGAGCCTGGGTGAGACCTGGTTTCTTTCTTCCAGACCCAGACAGTCATCCACACGGTGCAGAGCGCCTCTGGACAGATGTTCTCTGTAAGTCTTCAAGTTCTGATCAGTTCACAGCTGCACAGTGCCCTCCTTCCCCAA 20452962 20453132 NA NA NA NA NA NA CTGGTGGGAGCTGGGGTGGTCTTTACTCAGGAGAGCCTGGGTGAGACCTGGTTTCTTTCTTCCAGACCCAGACAGTCATCCACACGGTGCAGAGCGCCTCTGGACAGATGTTCTCTGTAAGTCTTCAAGTTCTGATCAGTTCACAGCTGCACAGTGCCCTCCTTCCCCAA CTGGTGGGAGCTGGGGTGGTCTTTACTCAGGAGAGCCTGGGTGAGACCTGGTTTCTTTCTTCCAGACCCAGACAGTCATCCACACGGTGCAGAGCGCCTCTGGACAGATGTTCTCTGTAAGTCTTCAAGTTCTGATCAGTTCACAGCTGCACAGTGCCCTCCTTCCCCAA natural 16 38 0.85 0.85 0.85 127 367 0.9244739 0.9524375 0.9384557 0.85 0.85 0.9244739 0.9524375 0 0 0 0 0.85 0.9384557 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003683532 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00002402686_000 ENSE00002402686 000 3 130318538 130318707 + 63 54 53 NA NA NA NA NA CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 NA NA NA NA NA NA TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG natural 117 203 0.85 0.8445344 0.8472672 1328 5675 0.9144485 0.902417 0.9084328 0.85 0.8445344 0.9144485 0.902417 0 0 0 0 0.8472672 0.9084328 0 0 0 FALSE FALSE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003662480 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002402686_001 ENSE00002402686 001 3 130318538 130318707 + 63 54 53 C T 130318551 2782 14 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAAAGTTTCTCTTTAA 130599693 130599863 130599706 130599707 130599707 upstr_intron -50 -0.7777778 TTAAAGAGAAACTTTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 28 53 1 0.9274253 0.9637127 0.85 0.8445344 0.9144485 0.902417 NA NA 0.08555146 0.02500835 0.8472672 0.9084328 NA 0.0552799 NA FALSE NA 0 -0.528 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 rs377018818 1 NA T:0.0003 T:0 TCT C,T 2.483e-05 3:130599707 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 0.03197 0.16155 0.01477 0.061011 0.5323912 0.14516 3.591687e-45 FALSE 1.23002e-05 ENSE00002402686_002 ENSE00002402686 002 3 130318538 130318707 + 63 54 53 T C 130318565 2783 28 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTGTGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599720 130599721 130599721 upstr_intron -36 -0.5555556 TTAAAGAGAAACTCTGTCAATGCTGCACAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 543 835 0.6385375 0.704312 0.6714247 0.85 0.8445344 0.9144485 0.902417 NA NA -0.2759111 -0.198105 0.8472672 0.9084328 NA -0.237008 NA FALSE NA 0 0.051 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 1 NA ATA T,C 8.275e-06 3:130599721 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 0.091673 0.15623 0.02888 0.061011 0.4704714 0.205289 3.591687e-45 FALSE 4.07203e-06 ENSE00002402686_003 ENSE00002402686 003 3 130318538 130318707 + 63 54 53 A G 130318570 2784 33 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGCAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599725 130599726 130599726 upstr_intron -31 -0.4761905 TTAAAGAGAAACTCTGTCAATGCTGCATAATTGCCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 48 216 0.8 0.8 0.8 0.85 0.8445344 0.9144485 0.902417 NA NA -0.1144485 -0.102417 0.8472672 0.9084328 NA -0.1084328 NA FALSE NA 0 0.012 rs190050429 intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 rs190050429 1 G:0.0040 G:0 G:0.0029 NA G:0 G:0.002 G:0.0164 G:0.0003 G:0.0052 TAC A,G 0.006082 3:130599726 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 0.205597 0.09351 0.00231 0.061011 0.4059532 0.14516 3.591687e-45 FALSE 0.00578006 ENSE00002402686_004 ENSE00002402686 004 3 130318538 130318707 + 63 54 53 C T 130318572 2785 35 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACAGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599727 130599728 130599728 upstr_intron -29 -0.4444444 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACTGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 1002 17 0.9425831 0.9670774 0.9548302 0.85 0.8445344 0.9144485 0.902417 NA NA 0.02813454 0.06466039 0.8472672 0.9084328 NA 0.04639747 NA FALSE NA 0 -0.38 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 rs375082038 1 NA T:0.0005 T:0.0001 CCG C,T 8.276e-05 3:130599728 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 0.23576 0.17365 0.00696 0.061011 0.6035933 0.21088 3.591687e-45 FALSE 6.10734e-05 ENSE00002402686_005 ENSE00002402686 005 3 130318538 130318707 + 63 54 53 G A 130318573 2786 36 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGATGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599728 130599729 130599729 upstr_intron -28 -0.4285714 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCATCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 606 107 0.8729437 0.9660232 0.9194834 0.85 0.8445344 0.9144485 0.902417 NA NA -0.04150488 0.0636062 0.8472672 0.9084328 NA 0.01105066 NA FALSE NA 0 -1.455 rs183035329 intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 rs183035329 1 A:0.0006 A:0.0008 A:0.0029 NA A:0 A:0 A:0 A:0.0011 A:0 CGT G,A 0.0002814 3:130599729 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant -0.213215 0.10907 0.0041 0.061011 0.6404598 0.14516 3.591687e-45 FALSE 0.000223825 ENSE00002402686_006 ENSE00002402686 006 3 130318538 130318707 + 63 54 53 C A 130318577 2787 40 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTTTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599732 130599733 130599733 upstr_intron -24 -0.3650794 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCAAACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 348 579 0.9705308 0.9552594 0.9628951 0.85 0.8445344 0.9144485 0.902417 NA NA 0.0560823 0.05284238 0.8472672 0.9084328 NA 0.05446234 NA FALSE NA 0 -1.227 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:130599733 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 0.242185 0.22325 0.07416 0.061011 0.7126037 0.14516 3.591687e-45 FALSE 8.13557e-06 ENSE00002402686_007 ENSE00002402686 007 3 130318538 130318707 + 63 54 53 C T 130318577 2788 40 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTATGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599732 130599733 130599733 upstr_intron -24 -0.3650794 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCATACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 137 52 0.9770336 0.9032543 0.9401439 0.85 0.8445344 0.9144485 0.902417 NA NA 0.06258502 0.0008372776 0.8472672 0.9084328 NA 0.03171115 NA FALSE NA 0 -1.227 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003662480 intron_variant 0.270362 0.17992 0.02862 0.061011 0.7190363 0.14516 3.591687e-45 FALSE 4.06779e-06 ENSE00002402686_008 ENSE00002402686 008 3 130318538 130318707 + 63 54 53 G A 130318588 2789 51 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAATAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599743 130599744 130599744 upstr_intron -13 -0.1904762 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTATTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 112 123 0.8989324 1 0.9494662 0.85 0.8445344 0.9144485 0.902417 NA NA -0.01551619 0.09758302 0.8472672 0.9084328 NA 0.04103341 NA FALSE NA 0.003 -0.156 NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:130599744 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 0.530222 0.26019 0.02982 0.061011 0.5924211 0.219936 3.591687e-45 FALSE 0.00652941 ENSE00002402686_010 ENSE00002402686 010 3 130318538 130318707 + 63 54 53 C T 130318591 2791 54 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGAAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599746 130599747 130599747 upstr_intron -10 -0.1428571 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTTCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 918 722 0.941583 0.9876231 0.9646031 0.85 0.8445344 0.9144485 0.902417 NA NA 0.02713447 0.08520616 0.8472672 0.9084328 NA 0.05617032 NA FALSE NA 0 -0.518 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 rs376174245 1 NA T:0 T:0.0001 TCC C,T 6.621e-05 3:130599747 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 1.067135 0.23816 0.00674 0.061011 0.6058616 0.229539 3.591687e-45 FALSE 3.65842e-05 ENSE00002402686_011 ENSE00002402686 011 3 130318538 130318707 + 63 54 53 T C 130318595 2792 58 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCGAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599750 130599751 130599751 upstr_intron -6 -0.07936508 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTCGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 59 35 0.9364301 0.9989052 0.9676677 0.85 0.8445344 0.9144485 0.902417 NA NA 0.0219816 0.09648821 0.8472672 0.9084328 NA 0.05923491 NA FALSE NA 0.623 1.127 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 11/27 1 NA TTG T,C 8.277e-06 3:130599751 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 splice_region_variant 0.363258 0.69536 0.35688 0.061011 0.6789415 0.341564 3.591687e-45 FALSE 4.06458e-06 ENSE00002402686_014 ENSE00002402686 014 3 130318538 130318707 + 63 54 53 C T 130318603 2795 66 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTACCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599758 130599759 130599759 exon 3 0.05555556 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGTAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 162 198 0.8051877 0.8007293 0.8029585 0.85 0.8445344 0.9144485 0.902417 NA NA -0.1092609 -0.1016877 0.8472672 0.9084328 NA -0.1054743 NA FALSE NA 0.183 -1.392 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 12/28 rs373136353&COSM728461&COSM1647538 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0003 T:0 GCA T,T 4.966e-05 3:130599759 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 splice_region_variant 0.429325 0.29349 0.00461 0.487112 0.8080971 0 3.591687e-45 FALSE 6.50258e-05 ENSE00002402686_015 ENSE00002402686 015 3 130318538 130318707 + 63 54 53 G T 130318608 2796 71 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTATTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599763 130599764 130599764 exon 8 0.1481481 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAATAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 2754 50 0.0195288 0.006471681 0.01300024 0.85 0.8445344 0.9144485 0.902417 NA NA -0.8949197 -0.8959453 0.8472672 0.9084328 NA -0.8954325 NA TRUE NA 1 4.889 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/28 1 NA AGA G,T 2.483e-05 3:130599764 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 missense_variant 5.169796 0.97261 0.92012 0.487112 0.9858779 0 3.591687e-45 FALSE 1.2193e-05 ENSE00002402686_016 ENSE00002402686 016 3 130318538 130318707 + 63 54 53 G T 130318611 2797 74 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGACTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599766 130599767 130599767 exon 11 0.2037037 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGTCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 51 148 0 0.009087017 0.004543509 0.85 0.8445344 0.9144485 0.902417 NA NA -0.9144485 -0.89333 0.8472672 0.9084328 NA -0.9038893 NA TRUE NA 1 4.889 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/28 rs368227266 1 NA GGC G,T 8.278e-06 3:130599767 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 missense_variant 6.482933 0.98544 0.93888 0.487112 0.9982332 0 3.591687e-45 FALSE 8.12889e-06 ENSE00002402686_017 ENSE00002402686 017 3 130318538 130318707 + 63 54 53 G A 130318615 2798 78 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGTCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599770 130599771 130599771 exon 15 0.2777778 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGACCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 13 21 0.8123246 0.9761271 0.8942259 0.85 0.8445344 0.9144485 0.902417 NA NA -0.1021239 0.07371016 0.8472672 0.9084328 NA -0.01420687 NA FALSE NA 0.997 1.462 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/28 rs561654818 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGC G,A 8.278e-06 3:130599771 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 stop_gained 12.9389 0.83689 0.52301 0.487112 0.9948344 0 3.591687e-45 FALSE 4.06464e-06 ENSE00002402686_018 ENSE00002402686 018 3 130318538 130318707 + 63 54 53 C A 130318621 2799 84 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGTCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599776 130599777 130599777 exon 21 0.3888889 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGACCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 633 203 0.999348 0.9984622 0.9989051 0.85 0.8445344 0.9144485 0.902417 NA NA 0.0848995 0.09604524 0.8472672 0.9084328 NA 0.09047237 NA FALSE NA 0 -1.602 rs112135798 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/28 rs112135798&TMP_ESP_3_130318621_130318621 1 A:0.0058 A:0 A:0.0014 NA A:0.001& A:0.001 A:0.0266& A:0.0011&-:0.0006 A:0.0058&-:0.0005 GCC C,A 0.005258 3:130599777 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 synonymous_variant 1.773259 0.11529 0.01001 0.487112 0.619455 0 3.591687e-45 FALSE 0.00515051 ENSE00002402686_021 ENSE00002402686 021 3 130318538 130318707 + 63 54 53 G A 130318628 2802 91 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCTGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599783 130599784 130599784 exon -27 0.5185185 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCAGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 308 77 0.8767109 0.9375992 0.9071551 0.85 0.8445344 0.9144485 0.902417 NA NA -0.03773761 0.03518226 0.8472672 0.9084328 NA -0.001277676 NA FALSE NA 1 4.889 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/28 rs376262924&COSM1566274&COSM1566273 1 NA A:0 A:0.0001 CGG G,A 1.656e-05 3:130599784 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 missense_variant 7.229566 0.98017 0.92393 0.487112 0.999454 0 3.591687e-45 FALSE 1.22045e-05 ENSE00002402686_022 ENSE00002402686 022 3 130318538 130318707 + 63 54 53 A G 130318631 2803 94 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGCCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599786 130599787 130599787 exon -24 0.5740741 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGGCACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 2931 39 0.0107596 0.008325566 0.009542581 0.85 0.8445344 0.9144485 0.902417 NA NA -0.9036889 -0.8940914 0.8472672 0.9084328 NA -0.8988902 NA TRUE NA 0.004 0.861 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/28 1 NA GAC A,G 8.278e-06 3:130599787 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 missense_variant 1.509991 0.76396 0.10112 0.487112 0.9000043 0 3.591687e-45 FALSE NA ENSE00002402686_023 ENSE00002402686 023 3 130318538 130318707 + 63 54 53 G T 130318661 2804 124 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGATCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599816 130599817 130599817 downstr_intron 7 1.134615 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGATCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 395 602 0.9869038 0.9666349 0.9767694 0.85 0.8445344 0.9144485 0.902417 NA NA 0.0724553 0.06421789 0.8472672 0.9084328 NA 0.0683366 NA FALSE NA 0.002 -0.201 NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:130599817 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 splice_region_variant 1.051947 0.22247 0.03761 0.061011 0.6625737 0.305763 3.591687e-45 FALSE 4.06868e-06 ENSE00002402686_025 ENSE00002402686 025 3 130318538 130318707 + 63 54 53 C G 130318664 2806 127 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAACGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599819 130599820 130599820 downstr_intron 10 1.192308 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCGTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 460 454 0.8476817 0.9712237 0.9094527 0.85 0.8445344 0.9144485 0.902417 NA NA -0.0667668 0.06880671 0.8472672 0.9084328 NA 0.001019959 NA FALSE NA 0 -0.695 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/27 1 NA CCT C,G 8.275e-06 3:130599820 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 2.078672 0.21485 0.0479 0.061011 0.7986872 0.305763 3.591687e-45 FALSE 4.0704e-06 ENSE00002402686_026 ENSE00002402686 026 3 130318538 130318707 + 63 54 53 A C 130318669 2807 132 CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCGAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599824 130599825 130599825 downstr_intron 15 1.288462 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTCGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 83 293 1 0.9983772 0.9991886 0.85 0.8445344 0.9144485 0.902417 NA NA 0.08555146 0.09596024 0.8472672 0.9084328 NA 0.09075585 NA FALSE NA 0.113 1.417 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/27 rs143760442 1 NA C:0 C:0.0001 TAG A,C 8.275e-06 3:130599825 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 2.100466 0.27705 0.12973 0.061011 0.8707222 0.359933 3.591687e-45 FALSE 4.07302e-06 ENSE00002402686_027 ENSE00002402686 027 3 130318538 130318707 + 63 54 53 G A 130318676 2808 139 CCACAACATGAGCCACCAAAACAGTGGGTCTTCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599831 130599832 130599832 downstr_intron 22 1.423077 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGAAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 566 671 1 0.9997074 0.9998537 0.85 0.8445344 0.9144485 0.902417 NA NA 0.08555146 0.09729041 0.8472672 0.9084328 NA 0.09142093 NA FALSE NA 0 -0.135 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/27 1 NA GGA G,A 9.101e-05 3:130599832 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 1.488995 0.20193 0.03331 0.061011 0.7466646 0.288039 3.591687e-45 FALSE 4.8938e-05 ENSE00002402686_028 ENSE00002402686 028 3 130318538 130318707 + 63 54 53 G A 130318686 2809 149 CCACAACATGAGCCACCAAAATAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599841 130599842 130599842 downstr_intron 32 1.615385 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTATTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 44 33 0.95 0.95 0.95 0.85 0.8445344 0.9144485 0.902417 NA NA 0.03555146 0.04758302 0.8472672 0.9084328 NA 0.04156724 NA FALSE NA 0 -0.116 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/27 rs550867946 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGT G,A 8.273e-06 3:130599842 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 0.72122 0.16252 0.03672 0.061011 0.6827623 0.21012 3.591687e-45 FALSE 4.09309e-06 ENSE00002402686_029 ENSE00002402686 029 3 130318538 130318707 + 63 54 53 G C 130318692 2810 155 CCACAACATGAGCCAGCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTACTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCCTGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 130599847 130599848 130599848 downstr_intron 38 1.730769 TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGCTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG mutant NA NA NA NA NA 281 24 1 0.8060253 0.9030126 0.85 0.8445344 0.9144485 0.902417 NA NA 0.08555146 -0.09639173 0.8472672 0.9084328 NA -0.005420136 NA FALSE NA 0 0.213 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 12/27 1 NA GGT G,C 8.271e-06 3:130599848 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003662480 intron_variant 0.029373 0.20902 0.02325 0.061011 0.5884056 0.0945736 3.591687e-45 FALSE 4.11323e-06 ENSE00002402686_BRK ENSE00002402686 BRK 3 130318538 130318707 + 63 54 53 A,G; T,T NA NA NA CCACAACATGAGCCACCAAAACAGTGGGTCTCCTTGTCTAGAAGGGCTCTTGGTGTCTTTCTTCTGGAGCCTGGTGTCCCGGGGGGGCCTGGCCAGCCTCTTCTGCCAAGTCAAAGGAACAGACAGATGTGTGACGGTAATTATGCAGCATTGACAGAGTTTCTCTTTAA 130599693 130599863 NA NA NA NA NA NA TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACTTGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACACCAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG TTAAAGAGAAACTCTGTCAATGCTGCATAATTACCGTCACACATCTGTCTGTTCCTTTGACAGGGCAGAAGAGGCTGGCCAGGCCCCCCCGGGACACCAGGCTCCAGAAGAAAGACAGTAAGAGCCCTTCTAGACAAGGAGACCCACTGTTTTGGTGGCTCATGTTGTGG control 77 28 0 0 0 NA NA NA NA NA 0.85 0.8445344 0.9144485 0.902417 -0.85 -0.8445344 NA NA 0.8472672 0.9084328 -0.8472672 NA NA NA TRUE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003662480 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002403290_000 ENSE00002403290 000 7 142658841 142659010 - 41 78 51 NA NA NA NA NA AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 NA NA NA NA NA NA CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT natural 94 78 0.9933284 0.9927634 0.9930459 3789 2387 0.9448142 0.9390856 0.9419499 0.9933284 0.9927634 0.9448142 0.9390856 0 0 0 0 0.9930459 0.9419499 0 0 0 FALSE FALSE NA NA NA NA NA KEL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KEL NA NA NA ENSG00000197993 ENSE00003521382 NA NA NA NA NA NA NA 2.009293e-16 FALSE NA ENSE00002403290_001 ENSE00002403290 001 7 142658841 142659010 - 41 78 51 C T 142658856 2984 155 AACATCAGTGTATTCTAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961768 142961769 142961769 downstr_intron 26 1.65 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTAGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 664 23 0.9997518 0.9835728 0.9916623 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05493759 0.04448721 0.9930459 0.9419499 NA 0.0497124 NA FALSE NA 0 -0.685 . intron_variant MODIFIER KEL HGNC 6308 ENST00000476829 2/5 1 NA CCA C,T 1.647e-05 7:142961769 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 intron_variant 0.175626 0.19487 0.0602 0.080785 0.6810095 0.0659114 2.009293e-16 FALSE 1.62512e-05 ENSE00002403290_003 ENSE00002403290 003 7 142658841 142659010 - 41 78 51 A G 142658876 2986 135 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCGCTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961788 142961789 142961789 downstr_intron 6 1.15 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGCGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 169 56 1 1 1 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05518577 0.06091439 0.9930459 0.9419499 NA 0.05805008 NA FALSE NA 0.669 0.997 . splice_region_variant&intron_variant LOW KEL HGNC 6308 ENST00000476829 2/5 1 NA CAC A,G 8.236e-06 7:142961789 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 splice_region_variant 0.29737 0.47334 0.49981 0.080785 0.4516159 0.267794 2.009293e-16 FALSE 1.2185e-05 ENSE00002403290_005 ENSE00002403290 005 7 142658841 142659010 - 41 78 51 C T 142658881 2988 130 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTATCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961793 142961794 142961794 downstr_intron 1 1.025 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGATAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 362 150 0.01328529 0.0955182 0.05440174 0.9933284 0.9927634 0.9448142 0.9390856 NA NA -0.9315289 -0.8435674 0.9930459 0.9419499 NA -0.8875482 NA TRUE NA 1 3.347 . splice_donor_variant HIGH KEL HGNC 6308 ENST00000476829 2/5 1 NA HC ACC C,T 8.236e-06 7:142961794 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 splice_donor_variant 4.031445 0.94052 0.89445 0.080785 0.9864259 0.968777 2.009293e-16 FALSE 8.12367e-06 ENSE00002403290_006 ENSE00002403290 006 7 142658841 142659010 - 41 78 51 G C 142658887 2989 124 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTCGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961799 142961800 142961800 exon -6 0.9358974 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCGAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 20 321 0.997924 0.999507 0.9987155 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05310974 0.06042138 0.9930459 0.9419499 NA 0.05676556 NA FALSE NA 0.992 4.236 . missense_variant MODERATE KEL HGNC 6308 ENST00000476829 2/6 1 deleterious(0.02) benign(0.321) NA TGG G,C 8.236e-06 7:142961800 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 missense_variant -0.038643 0.89097 0.90231 0.615465 0.9114979 0 2.009293e-16 FALSE 4.06134e-06 ENSE00002403290_007 ENSE00002403290 007 7 142658841 142659010 - 41 78 51 C T 142658892 2990 119 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCTAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961804 142961805 142961805 exon -11 0.8717949 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTAGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 17 69 0.9569706 0.8791442 0.9180574 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.01215636 -0.05994136 0.9930459 0.9419499 NA -0.0238925 NA FALSE NA 0.001 -0.157 . stop_gained HIGH KEL HGNC 6308 ENST00000476829 2/6 1 NA HC CCA C,T 8.237e-06 7:142961805 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 stop_gained 4.564202 0.18588 0.09058 0.615465 0.8936527 0 2.009293e-16 FALSE 4.06154e-06 ENSE00002403290_008 ENSE00002403290 008 7 142658841 142659010 - 41 78 51 C T 142658903 2991 108 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCTATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961815 142961816 142961816 exon -22 0.7307692 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATAGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 2168 519 1 0.9767577 0.9883788 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05518577 0.03767207 0.9930459 0.9419499 NA 0.04642892 NA FALSE NA 0.038 1.998 rs183462563 missense_variant MODERATE KEL HGNC 6308 ENST00000476829 2/6 1 deleterious(0.02) benign(0.039) NA CCA C,T 2.471e-05 7:142961816 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 start_lost 0.98633 0.2846 0.2669 0.615465 0.9592086 0 2.009293e-16 FALSE 2.43683e-05 ENSE00002403290_010 ENSE00002403290 010 7 142658841 142659010 - 41 78 51 C T 142658914 2993 97 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGTCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961826 142961827 142961827 exon -33 0.5897436 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGACAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 698 168 0.9980979 0.9880689 0.9930834 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05328365 0.0489833 0.9930459 0.9419499 NA 0.05113348 NA FALSE NA 0 -0.433 . missense_variant MODERATE KEL HGNC 6308 ENST00000476829 2/6 1 tolerated_low_confidence(0.22) benign(0.018) NA GCC C,T 8.236e-06 7:142961827 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 missense_variant -0.019177 0.21268 0.06868 0.615465 0.1538118 0 2.009293e-16 FALSE 4.06157e-06 ENSE00002403290_011 ENSE00002403290 011 7 142658841 142659010 - 41 78 51 C T 142658922 2994 89 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGTGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961834 142961835 142961835 exon 38 0.4871795 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACACAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 198 585 0.999792 0.9925788 0.9961854 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05497774 0.0534932 0.9930459 0.9419499 NA 0.05423547 NA FALSE NA 0 -0.971 rs141741567 missense_variant MODERATE KEL HGNC 6308 ENST00000476829 2/6 1 tolerated_low_confidence(0.52) benign(0) NA GCG C,T 7.413e-05 7:142961835 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 missense_variant -0.242574 0.18691 0.0445 0.615465 0.877176 0 2.009293e-16 FALSE 7.71737e-05 ENSE00002403290_013 ENSE00002403290 013 7 142658841 142659010 - 41 78 51 G A 142658931 2996 80 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCTGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT 142961753 142961923 142961843 142961844 142961844 exon 29 0.3717949 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCTGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 222 798 0.9930239 0.9959835 0.9945037 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.0482097 0.05689788 0.9930459 0.9419499 NA 0.05255379 NA FALSE NA 0.001 0.37 NA NA NA KEL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:142961844 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 missense_variant -0.301673 0.20021 0.10002 0.615465 0.3827341 0 2.009293e-16 FALSE 1.21862e-05 ENSE00002403290_014 ENSE00002403290 014 7 142658841 142659010 - 41 78 51 C T 142658943 2997 68 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCATTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961855 142961856 142961856 exon 17 0.2179487 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAATGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 583 133 1 0.998809 0.9994045 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05518577 0.0597234 0.9930459 0.9419499 NA 0.05745458 NA FALSE NA 0 0.426 . missense_variant MODERATE KEL HGNC 6308 ENST00000476829 2/6 1 deleterious_low_confidence(0.01) benign(0.083) NA ACT C,T 8.236e-06 7:142961856 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 missense_variant 0.543784 0.22351 0.09289 0.615465 0.9628226 0 2.009293e-16 FALSE 4.06217e-06 ENSE00002403290_015 ENSE00002403290 015 7 142658841 142659010 - 41 78 51 C T 142658952 2998 59 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCTCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961864 142961865 142961865 exon 8 0.1025641 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGAGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 449 103 0.9971651 1 0.9985826 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05235089 0.06091439 0.9930459 0.9419499 NA 0.05663264 NA FALSE NA 0.014 0.622 . missense_variant MODERATE KEL HGNC 6308 ENST00000476829 2/6 1 tolerated_low_confidence(0.08) benign(0.035) NA CCC C,T 1.647e-05 7:142961865 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 missense_variant 0.021482 0.25378 0.27778 0.615465 0.5877655 0 2.009293e-16 FALSE 8.12585e-06 ENSE00002403290_016 ENSE00002403290 016 7 142658841 142659010 - 41 78 51 A G 142658954 2999 57 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCGCCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961866 142961867 142961867 exon 6 0.07692308 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGCGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 303 127 1 1 1 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05518577 0.06091439 0.9930459 0.9419499 NA 0.05805008 NA FALSE NA 0.001 0.255 rs8175960 synonymous_variant LOW KEL HGNC 6308 ENST00000476829 2/6 rs8175960&COSM484972&COSM3832136 1 G:0.0014 G:0.0053 G:0 NA G:0 G:0 G:0 G:0.0048 G:0 CAC A,G 0.0004118 7:142961867 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 splice_region_variant 0.523505 0.2557 0.18332 0.615465 0.3007365 0 2.009293e-16 FALSE 0.000349417 ENSE00002403290_017 ENSE00002403290 017 7 142658841 142659010 - 41 78 51 G A 142658965 3000 46 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCATTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT 142961753 142961923 142961877 142961878 142961878 upstr_intron -6 -0.09803922 CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCATTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 1155 674 0.9972996 0.9930253 0.9951624 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05248533 0.05393967 0.9930459 0.9419499 NA 0.0532125 NA FALSE NA 0.009 2.132 . splice_region_variant&intron_variant LOW KEL HGNC 6308 ENST00000476829 1/5 1 NA AGT G,A 8.236e-06 7:142961878 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 splice_region_variant 0.816533 0.67303 0.18425 0.065574 0.5338548 0.194902 2.009293e-16 FALSE 8.12711e-06 ENSE00002403290_018 ENSE00002403290 018 7 142658841 142659010 - 41 78 51 G A 142658982 3001 29 CCATTTCCTGAACCAGCTTCTCTCTCCTTCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT 142961753 142961923 142961894 142961895 142961895 upstr_intron -23 -0.4313725 CCATTTCCTGAACCAGCTTCTCTCTCCTTCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 114 37 0.9963332 1 0.9981666 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05151892 0.06091439 0.9930459 0.9419499 NA 0.05621665 NA FALSE NA 0 -0.415 . intron_variant MODIFIER KEL HGNC 6308 ENST00000476829 1/5 1 NA GGA G,A 8.237e-06 7:142961895 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 intron_variant 0.561055 0.33413 0.06413 0.065574 0.8550768 0.103359 2.009293e-16 FALSE 4.06511e-06 ENSE00002403290_019 ENSE00002403290 019 7 142658841 142659010 - 41 78 51 G A 142658989 3002 22 CCATTTCCTGAACCAGCTTCTTTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT 142961753 142961923 142961901 142961902 142961902 upstr_intron -30 -0.5686275 CCATTTCCTGAACCAGCTTCTTTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 53 408 1 0.9999067 0.9999533 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05518577 0.06082106 0.9930459 0.9419499 NA 0.05800341 NA FALSE NA 0.996 0.717 . intron_variant MODIFIER KEL HGNC 6308 ENST00000476829 1/5 1 NA AGA G,A 2.471e-05 7:142961902 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 intron_variant 0.174984 0.3939 0.48916 0.065574 0.6593861 0.149883 2.009293e-16 FALSE 1.21969e-05 ENSE00002403290_020 ENSE00002403290 020 7 142658841 142659010 - 41 78 51 A G 142658990 3003 21 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGGGAAGCTGGTTCAGGAAATGG 142961753 142961923 142961902 142961903 142961903 upstr_intron -31 -0.5882353 CCATTTCCTGAACCAGCTTCCCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 1014 310 0.9717414 0.9888338 0.9802876 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.02692714 0.04974816 0.9930459 0.9419499 NA 0.03833765 NA FALSE NA 0.997 1.635 . intron_variant MODIFIER KEL HGNC 6308 ENST00000476829 1/5 1 NA GAG A,G 1.647e-05 7:142961903 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 intron_variant 0.399017 0.452 0.58637 0.065574 0.7238937 0.213079 2.009293e-16 FALSE 8.13154e-06 ENSE00002403290_021 ENSE00002403290 021 7 142658841 142659010 - 41 78 51 G A 142658994 3004 17 CCATTTCCTGAACCAGTTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT 142961753 142961923 142961906 142961907 142961907 upstr_intron -35 -0.6666667 CCATTTCCTGAACCAGTTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 837 1233 0.822027 0.9981671 0.910097 0.9933284 0.9927634 0.9448142 0.9390856 NA NA -0.1227872 0.05908144 0.9930459 0.9419499 NA -0.03185288 NA FALSE NA 0.905 1.325 . intron_variant MODIFIER KEL HGNC 6308 ENST00000476829 1/5 1 NA AGC G,A 8.236e-06 7:142961907 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 intron_variant 0.436197 0.38734 0.48447 0.065574 0.7153362 0.124442 2.009293e-16 FALSE 4.06712e-06 ENSE00002403290_023 ENSE00002403290 023 7 142658841 142659010 - 41 78 51 G A 142658998 3006 13 CCATTTCCTGAATCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT 142961753 142961923 142961910 142961911 142961911 upstr_intron -39 -0.745098 CCATTTCCTGAATCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 378 974 0.9282206 0.9997985 0.9640095 0.9933284 0.9927634 0.9448142 0.9390856 NA NA -0.01659366 0.06071285 0.9930459 0.9419499 NA 0.02205959 NA FALSE NA 0.015 0.767 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:142961911 KEL HGNC Symbol protein_coding 21567 ENSG00000197993 ENSE00003521382 intron_variant 0.499769 0.38009 0.11184 0.065574 0.6582771 0.125446 2.009293e-16 FALSE 2.03398e-05 ENSE00002403290_024 ENSE00002403290 024 7 142658841 142659010 - 41 78 51 G C 142658998 3007 13 AACATCAGTGTATTCCAGACCCAGGAGAGGAGGCCACTTACCTCTTGGCTCCAGAGAGTTCCCATTCCACCTGCCTGGCTGCGTTCCCTCGGCTCTTCCTCACTTTGGTCCCCACCTTCCTGAAGTGAGTGGAGGGAGAAGGAGGAGAGAGAAGCTGCTTCAGGAAATGG 142961753 142961923 142961910 142961911 142961911 upstr_intron -39 -0.745098 CCATTTCCTGAAGCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT mutant NA NA NA NA NA 413 11 0.9992001 1 0.9996001 0.9933284 0.9927634 0.9448142 0.9390856 NA NA 0.05438587 0.06091439 0.9930459 0.9419499 NA 0.05765013 NA FALSE NA 0.015 0.767 NA NA NA KEL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KEL NA NA NA ENSG00000197993 ENSE00003521382 intron_variant 0.13219 0.40205 0.16514 0.065574 0.5317651 0.125446 2.009293e-16 FALSE 4.06795e-06 ENSE00002403290_BRK ENSE00002403290 BRK 7 142658841 142659010 - 41 78 51 A,G; T,T NA NA NA CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCTTGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGCCAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT 142961753 142961923 NA NA NA NA NA NA CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCTTGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGCCAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT CCATTTCCTGAACCAGCTTCTCTCTCCTCCTTCTCCCTCCACTCACTTCAGGAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATGGGAACTCTCTGGAGCCAAGAGGTAAGTGGCCTCCTCTCCTGGGTCTGGAATACACTGATGTT control NA NA NA NA NA 345 260 0 0.001232456 0.000616228 0.9933284 0.9927634 0.9448142 0.9390856 NA NA -0.9448142 -0.9378532 0.9930459 0.9419499 NA -0.9413337 NA TRUE NA NA NA NA NA NA KEL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA KEL NA NA NA ENSG00000197993 ENSE00003521382 NA NA NA NA NA NA NA 2.009293e-16 FALSE NA ENSE00002403654_000 ENSE00002403654 000 6 70647871 70648040 + 59 63 48 NA NA NA NA NA TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 NA NA NA NA NA NA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA natural NA NA NA NA NA 1882 1965 0.9043502 0.9333396 0.9188449 NA NA 0.9043502 0.9333396 NA NA 0 0 NA 0.9188449 NA 0 NA FALSE NA NA NA NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003713099 NA NA NA NA NA NA NA 5.55032e-17 FALSE NA ENSE00002403654_001 ENSE00002403654 001 6 70647871 70648040 + 59 63 48 A G 70647885 1465 15 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATCGATCTAAAGCCAAA 69937978 69938148 69937992 69937993 69937993 upstr_intron -45 -0.7457627 TTTGGCTTTAGATCGATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 83 399 0.9885552 0.9957831 0.9921692 NA NA 0.9043502 0.9333396 NA NA 0.08420499 0.06244357 NA 0.9188449 NA 0.07332428 NA FALSE NA 0.007 2.19 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 8/50 1 NA CAA A,G 1.648e-05 6:69937993 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 intron_variant 1.486249 0.38284 0.25222 0.099367 0.723995 0.118845 5.55032e-17 FALSE 1.25123e-05 ENSE00002403654_002 ENSE00002403654 002 6 70647871 70648040 + 59 63 48 C T 70647892 1466 22 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTATCACATTGATCTAAAGCCAAA 69937978 69938148 69937999 69938000 69938000 upstr_intron -38 -0.6271186 TTTGGCTTTAGATCAATGTGATAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 508 533 0.9967971 0.9951191 0.9959581 NA NA 0.9043502 0.9333396 NA NA 0.09244691 0.06177948 NA 0.9188449 NA 0.0771132 NA FALSE NA 0 -0.286 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 8/50 1 NA ACA C,T 8.242e-06 6:69938000 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 intron_variant 1.627242 0.18334 0.00628 0.099367 0.7426425 0.0744736 5.55032e-17 FALSE 1.66474e-05 ENSE00002403654_004 ENSE00002403654 004 6 70647871 70648040 + 59 63 48 A T 70647912 1468 42 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATAACTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938019 69938020 69938020 upstr_intron -18 -0.2881356 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGTTATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 68 181 1 0.9938869 0.9969434 NA NA 0.9043502 0.9333396 NA NA 0.09564982 0.06054732 NA 0.9188449 NA 0.07809857 NA FALSE NA 0 -0.029 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 8/50 rs370798417 1 NA T:0 T:0.0001 GAT A,T 0.0001236 6:69938020 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 intron_variant -0.552971 0.22133 0.03076 0.099367 0.4931477 0.12591 5.55032e-17 FALSE 9.79944e-05 ENSE00002403654_005 ENSE00002403654 005 6 70647871 70648040 + 59 63 48 A G 70647914 1469 44 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCACATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938021 69938022 69938022 upstr_intron -16 -0.2542373 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATGTGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 316 898 0.9984266 0.9991907 0.9988087 NA NA 0.9043502 0.9333396 NA NA 0.09407647 0.06585113 NA 0.9188449 NA 0.0799638 NA FALSE NA 0.006 0.26 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 8/50 1 NA TAT A,G 1.648e-05 6:69938022 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 intron_variant -0.069907 0.6819 0.11173 0.099367 0.487812 0.12591 5.55032e-17 FALSE 1.22444e-05 ENSE00002403654_006 ENSE00002403654 006 6 70647871 70648040 + 59 63 48 T C 70647915 1470 45 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCGTATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938022 69938023 69938023 upstr_intron -15 -0.2372881 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATACGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 540 515 0.7990349 0.7961242 0.7975795 NA NA 0.9043502 0.9333396 NA NA -0.1053152 -0.1372154 NA 0.9188449 NA -0.1212653 NA FALSE NA 0.074 2.146 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 8/50 1 NA ATG T,C 1.648e-05 6:69938023 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 intron_variant 0.193712 0.95025 0.24846 0.099367 0.5531412 0.917032 5.55032e-17 FALSE 8.164e-06 ENSE00002403654_007 ENSE00002403654 007 6 70647871 70648040 + 59 63 48 T C 70647920 1471 50 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAGATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938027 69938028 69938028 upstr_intron -10 -0.1525424 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATCTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 542 47 0.9859928 0.9220488 0.9540208 NA NA 0.9043502 0.9333396 NA NA 0.08164262 -0.01129079 NA 0.9188449 NA 0.03517591 NA FALSE NA 1 1.356 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 8/50 rs375782681 1 NA C:0 C:0.0001 TTT T,C 1.648e-05 6:69938028 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 intron_variant 0.242235 0.86396 0.79593 0.099367 0.3593152 0.194519 5.55032e-17 FALSE 1.22386e-05 ENSE00002403654_008 ENSE00002403654 008 6 70647871 70648040 + 59 63 48 C T 70647925 1472 55 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAACAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938032 69938033 69938033 upstr_intron -5 -0.06779661 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGTTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 280 339 1 0.9995332 0.9997666 NA NA 0.9043502 0.9333396 NA NA 0.09564982 0.06619361 NA 0.9188449 NA 0.08092172 NA FALSE NA 0.001 0.078 . splice_region_variant&intron_variant LOW COL19A1 HGNC 2196 ENST00000322773 8/50 rs200232703 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GCT C,T 1.648e-05 6:69938033 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 splice_region_variant 0.593492 0.23514 0.07732 0.099367 0.5627832 0.203315 5.55032e-17 FALSE NA ENSE00002403654_011 ENSE00002403654 011 6 70647871 70648040 + 59 63 48 G A 70647939 1475 69 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCTTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938046 69938047 69938047 exon 10 0.1587302 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAAGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 46 90 0.9286462 1 0.9643231 NA NA 0.9043502 0.9333396 NA NA 0.024296 0.06666043 NA 0.9188449 NA 0.04547821 NA FALSE NA 1 7.322 rs148101356 missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 9/51 rs148101356 1 deleterious(0) unknown(0) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0002 AGG G,A 0.0002224 6:69938047 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 missense_variant 3.209691 0.99342 0.98562 0.487112 0.9852208 0 5.55032e-17 FALSE 0.000232244 ENSE00002403654_013 ENSE00002403654 013 6 70647871 70648040 + 59 63 48 G C 70647951 1477 81 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGGTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938058 69938059 69938059 exon 22 0.3492063 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGACCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 147 279 0.95 0.9466539 0.9483269 NA NA 0.9043502 0.9333396 NA NA 0.04564982 0.01331428 NA 0.9188449 NA 0.02948205 NA FALSE NA 0.884 1.318 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 9/51 1 tolerated(0.3) unknown(0) NA AGC G,C 8.238e-06 6:69938059 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 missense_variant 0.59112 0.33366 0.71225 0.487112 0.8615272 0 5.55032e-17 FALSE 8.14783e-06 ENSE00002403654_014 ENSE00002403654 014 6 70647871 70648040 + 59 63 48 G A 70647956 1478 86 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCTGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938063 69938064 69938064 exon 27 0.4285714 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCAGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 1568 86 0.8178271 0.8 0.8089135 NA NA 0.9043502 0.9333396 NA NA -0.08652309 -0.1333396 NA 0.9188449 NA -0.1099313 NA FALSE NA 0.745 -0.39 rs150606082 synonymous_variant LOW COL19A1 HGNC 2196 ENST00000322773 9/51 rs150606082 1 NA A:0.0002 A:0.0001 CGG G,A 4.943e-05 6:69938064 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 synonymous_variant 0.691593 0.11142 0.08506 0.562547 0.388374 0 5.55032e-17 FALSE 3.26009e-05 ENSE00002403654_015 ENSE00002403654 015 6 70647871 70648040 + 59 63 48 C G 70647964 1479 94 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCACGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938071 69938072 69938072 exon -29 0.5555556 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACGTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 88 309 1 0.9939552 0.9969776 NA NA 0.9043502 0.9333396 NA NA 0.09564982 0.06061564 NA 0.9188449 NA 0.07813273 NA FALSE NA 1 1.928 . missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 9/51 1 tolerated(0.2) unknown(0) NA CCT C,G 8.238e-06 6:69938072 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 missense_variant 1.504223 0.98955 0.94753 0.562547 0.8604478 0 5.55032e-17 FALSE 1.22233e-05 ENSE00002403654_018 ENSE00002403654 018 6 70647871 70648040 + 59 63 48 T G 70647980 1482 110 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTCTGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938087 69938088 69938088 exon -13 0.8095238 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCAGAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 211 219 1 1 1 NA NA 0.9043502 0.9333396 NA NA 0.09564982 0.06666043 NA 0.9188449 NA 0.08115512 NA FALSE NA 0.003 -2.048 rs140192576 missense_variant MODERATE COL19A1 HGNC 2196 ENST00000322773 9/51 rs140192576 1 tolerated(0.22) unknown(0) G:0.0004 G:0 G:0.0029 NA G:0 G:0 G:0 G:0 G:0.0002 ATA T,G 0.0002059 6:69938088 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 missense_variant -1.070126 0.1664 0.02653 0.562547 0.4347488 0 5.55032e-17 FALSE 0.000301716 ENSE00002403654_020 ENSE00002403654 020 6 70647871 70648040 + 59 63 48 A G 70647996 1484 126 TTTTTAACAAAACCCTGTTTTCTCCATCAGTATTTGTTTTTTTCCTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938103 69938104 69938104 downstr_intron 4 1.085106 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAGGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 72 114 0.006841572 0 0.003420786 NA NA 0.9043502 0.9333396 NA NA -0.8975086 -0.9333396 NA 0.9188449 NA -0.9154241 NA TRUE NA 1 2.484 . splice_region_variant&intron_variant LOW COL19A1 HGNC 2196 ENST00000322773 9/50 rs558872553 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAG A,G 1.648e-05 6:69938104 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 splice_region_variant 1.282929 0.98593 0.91847 0.099367 0.9071262 0.948383 5.55032e-17 FALSE 3.27831e-05 ENSE00002403654_023 ENSE00002403654 023 6 70647871 70648040 + 59 63 48 G C 70648013 1487 143 TTTTTAACAAAACCCTGTTTTCTCCATGAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938120 69938121 69938121 downstr_intron 21 1.446809 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTCATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 70 452 0.9908339 0.9874669 0.9891504 NA NA 0.9043502 0.9333396 NA NA 0.08648374 0.05412734 NA 0.9188449 NA 0.07030554 NA FALSE NA 0 -0.02 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:69938121 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 intron_variant -0.349268 0.23255 0.10446 0.099367 0.2599904 0.0821837 5.55032e-17 FALSE 8.27794e-06 ENSE00002403654_024 ENSE00002403654 024 6 70647871 70648040 + 59 63 48 G A 70648013 1488 143 TTTTTAACAAAACCCTGTTTTCTCCATTAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938120 69938121 69938121 downstr_intron 21 1.446809 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTAATGGAGAAAACAGGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 142 1811 0.9814781 0.9975911 0.9895346 NA NA 0.9043502 0.9333396 NA NA 0.07712796 0.06425156 NA 0.9188449 NA 0.07068976 NA FALSE NA 0 -0.02 NA NA NA COL19A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL19A1 NA NA NA ENSG00000082293 ENSE00003713099 intron_variant -0.041555 0.2133 0.07658 0.099367 0.4276336 0.0821837 5.55032e-17 FALSE 1.65559e-05 ENSE00002403654_025 ENSE00002403654 025 6 70647871 70648040 + 59 63 48 G T 70648026 1489 156 TTTTTAACAAAACCATGTTTTCTCCATCAGTATTTGTTTTTTTCTTACCGGCTCTCCTTTATGCCCTTTCTGCCCAGGTGAACCCGGAGCTCCTGGTAATCCTGCTTCTCCCTGAGCAAAAATGCATATCTGTGTTAGCAAACATTCTGTCACATTGATCTAAAGCCAAA 69937978 69938148 69938133 69938134 69938134 downstr_intron 34 1.723404 TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACATGGTTTTGTTAAAAA TTTGGCTTTAGATCAATGTGACAGAATGTTTGCTAACACAGATATGCATTTTTGCTCAGGGAGAAGCAGGATTACCAGGAGCTCCGGGTTCACCTGGGCAGAAAGGGCATAAAGGAGAGCCGGTAAGAAAAAAACAAATACTGATGGAGAAAACAGGGTTTTGTTAAAAA mutant NA NA NA NA NA 414 459 0.9975493 0.9987465 0.9981479 NA NA 0.9043502 0.9333396 NA NA 0.0931991 0.06540696 NA 0.9188449 NA 0.07930303 NA FALSE NA 0 -1.69 . intron_variant MODIFIER COL19A1 HGNC 2196 ENST00000322773 9/50 rs199652343 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 AGG G,T 5.771e-05 6:69938134 COL19A1 HGNC Symbol protein_coding 343405 ENSG00000082293 ENSE00003713099 intron_variant -0.02336 0.16189 0.00639 0.099367 0.5351144 0.0832456 5.55032e-17 FALSE 3.41093e-05 ENSE00002404026_000 ENSE00002404026 000 6 90326237 90326406 + 41 99 30 NA NA NA NA NA TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 NA NA NA NA NA NA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA natural 36 88 0.85 0.85 0.85 499 538 0.7429613 0.8537264 0.7983438 0.85 0.85 0.7429613 0.8537264 0 0 0 0 0.85 0.7983438 0 0 0 FALSE FALSE NA NA NA NA NA ANKRD6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD6 NA NA NA ENSG00000135299 ENSE00003692774 NA NA NA NA NA NA NA 3.487691e-07 FALSE NA ENSE00002404122_000 ENSE00002404122 000 21 44174047 44174216 + 53 75 42 NA NA NA NA NA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 NA NA NA NA NA NA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA natural 110 110 0.9781128 0.9878244 0.9829686 463 387 0.8521572 0.9967165 0.9244369 0.9781128 0.9878244 0.8521572 0.9967165 0 0 0 0 0.9829686 0.9244369 0 0 0 FALSE FALSE NA NA NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE9A NA NA NA ENSG00000160191 ENSE00003642531 NA NA NA NA NA NA NA 0.002017364 FALSE NA ENSE00002404122_009 ENSE00002404122 009 21 44174047 44174216 + 53 75 42 C G 44174068 309 22 CACTGTCACAGGCCCACGGCGGCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42753957 42753958 42753958 upstr_intron -32 -0.5849057 CACTGTCACAGGCCCACGGCGGCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 51 163 1 0.9969059 0.9984529 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1478428 0.0001893472 0.9829686 0.9244369 NA 0.07401606 NA FALSE NA 0 -0.968 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 6/6 rs376742102 1 NA G:0.0007 G:0 GCC C,G 2.471e-05 21:42753958 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 intron_variant -0.065537 0.09552 0.00722 0.07523 0.5254742 0.0989383 0.002017364 FALSE 1.26293e-05 ENSE00002404122_012 ENSE00002404122 012 21 44174047 44174216 + 53 75 42 C T 44174079 312 33 CACTGTCACAGGCCCACGGCGCCTGGTTAACATGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42753968 42753969 42753969 upstr_intron -21 -0.3773585 CACTGTCACAGGCCCACGGCGCCTGGTTAACATGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 452 62 0.9959063 1 0.9979532 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1437491 0.003283486 0.9829686 0.9244369 NA 0.07351629 NA FALSE NA 0 -2.323 . intron_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 6/6 rs369817692 1 NA T:0 T:0.0002 ACG C,T 4.118e-05 21:42753969 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 intron_variant 0.282345 0.26249 0.01061 0.07523 0.8942826 0.0989383 0.002017364 FALSE 2.47227e-05 ENSE00002404122_017 ENSE00002404122 017 21 44174047 44174216 + 53 75 42 C G 44174091 317 45 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTGCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42753980 42753981 42753981 upstr_intron -9 -0.1509434 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTGCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 256 17 0.9815366 1 0.9907683 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1293794 0.003283486 0.9829686 0.9244369 NA 0.06633142 NA FALSE NA 0.001 0.536 NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:42753981 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 intron_variant 0.161079 0.24246 0.10979 0.07523 0.5998346 0.102339 0.002017364 FALSE 4.08801e-06 ENSE00002404122_020 ENSE00002404122 020 21 44174047 44174216 + 53 75 42 A T 44174116 320 70 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGTGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754005 42754006 42754006 exon 17 0.2266667 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGTGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 152 103 0.9887196 1 0.9943598 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1365623 0.003283486 0.9829686 0.9244369 NA 0.06992291 NA FALSE NA 1 8.377 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 7/7 1 NA GAG A,T 8.236e-06 21:42754006 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 missense_variant 4.506038 0.98809 0.98535 0.706298 0.9895204 0 0.002017364 FALSE 4.06428e-06 ENSE00002404122_022 ENSE00002404122 022 21 44174047 44174216 + 53 75 42 C T 44174123 322 77 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATTGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754012 42754013 42754013 exon 24 0.32 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATTGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 199 185 1 0.9926847 0.9963423 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1478428 -0.004031852 0.9829686 0.9244369 NA 0.07190546 NA FALSE NA 0 -3.641 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 7/7 1 NA TCG C,T 1.647e-05 21:42754013 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 synonymous_variant 2.1885 0.12911 0.01419 0.706298 0.7935434 0 0.002017364 FALSE 1.62599e-05 ENSE00002404122_023 ENSE00002404122 023 21 44174047 44174216 + 53 75 42 G C 44174124 323 78 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCCAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754013 42754014 42754014 exon 25 0.3333333 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCCAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 384 108 0.9995705 1 0.9997853 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1474133 0.003283486 0.9829686 0.9244369 NA 0.07534839 NA FALSE NA 1 5.675 rs183475207 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 7/7 rs183475207 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CGA G,C 8.236e-06 21:42754014 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 missense_variant 2.731202 0.98941 0.97297 0.706298 0.9908382 0 0.002017364 FALSE NA ENSE00002404122_024 ENSE00002404122 024 21 44174047 44174216 + 53 75 42 C T 44174133 324 87 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGTGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754022 42754023 42754023 exon 34 0.4533333 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGTGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 20 50 1 1 1 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1478428 0.003283486 0.9829686 0.9244369 NA 0.07556313 NA FALSE NA 0.988 2.766 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 7/7 1 NA GCG C,T 2.471e-05 21:42754023 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 missense_variant 7.755336 0.97186 0.83289 0.706298 0.999216 0 0.002017364 FALSE 1.21976e-05 ENSE00002404122_025 ENSE00002404122 025 21 44174047 44174216 + 53 75 42 G A 44174134 325 88 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCAGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754023 42754024 42754024 exon 35 0.4666667 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCAGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 124 28 1 0.9186716 0.9593358 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1478428 -0.07804494 0.9829686 0.9244369 NA 0.03489891 NA FALSE NA 1 2.262 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 7/7 1 NA CGG G,A 1.647e-05 21:42754024 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 missense_variant 5.614104 0.98161 0.83071 0.706298 0.9993865 0 0.002017364 FALSE 1.62594e-05 ENSE00002404122_026 ENSE00002404122 026 21 44174047 44174216 + 53 75 42 G A 44174141 326 95 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCAACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754030 42754031 42754031 exon -34 0.56 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCAACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 47 124 0.996444 0.9996925 0.9980683 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1442868 0.002975985 0.9829686 0.9244369 NA 0.0736314 NA FALSE NA 0 -2.987 rs142319558 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 7/7 rs142319558 1 NA A:0.0002 A:0 CGA G,A 4.118e-05 21:42754031 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 synonymous_variant 1.667515 0.85407 0.03509 0.706298 0.7420219 0 0.002017364 FALSE 3.6594e-05 ENSE00002404122_029 ENSE00002404122 029 21 44174047 44174216 + 53 75 42 C T 44174144 329 98 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACTTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754033 42754034 42754034 exon -31 0.6 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACTTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 251 180 0.991888 0.9933942 0.9926411 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1397308 -0.003322272 0.9829686 0.9244369 NA 0.06820426 NA FALSE NA 0.572 -0.726 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 7/7 1 NA CCT C,T 8.236e-06 21:42754034 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 synonymous_variant 2.02761 0.93692 0.22246 0.706298 0.7087743 0 0.002017364 FALSE 4.06626e-06 ENSE00002404122_032 ENSE00002404122 032 21 44174047 44174216 + 53 75 42 G T 44174151 332 105 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACTTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754040 42754041 42754041 exon -24 0.6933333 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACTTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 193 27 0.9902236 1 0.9951118 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1380663 0.003283486 0.9829686 0.9244369 NA 0.0706749 NA FALSE NA 1 8.853 NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:42754041 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 missense_variant 6.810896 0.9908 0.98762 0.706298 0.9963438 0 0.002017364 FALSE 4.06759e-06 ENSE00002404122_033 ENSE00002404122 033 21 44174047 44174216 + 53 75 42 C T 44174182 333 136 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGTGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754071 42754072 42754072 downstr_intron 8 1.195122 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGTGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 228 13 0.9998194 1 0.9999097 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1476621 0.003283486 0.9829686 0.9244369 NA 0.07547281 NA FALSE NA 0 -1.307 . downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 rs202197800 1 T:0.0006 T:0 T:0 NA T:0.002 T:0 T:0.001 GCG C,T 0.00014 21:42754072 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 splice_region_variant 0.367374 0.12825 0.01445 0.06567 0.6029318 0.0753952 0.002017364 FALSE 0.000139124 ENSE00002404122_035 ENSE00002404122 035 21 44174047 44174216 + 53 75 42 G A 44174185 335 139 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGAGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754074 42754075 42754075 downstr_intron 11 1.268293 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGAGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 228 1490 1 0.9984234 0.9992117 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1478428 0.001706857 0.9829686 0.9244369 NA 0.07477481 NA FALSE NA 0 1.216 . downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 rs375221157 1 NA A:0.0002 A:0 GGG G,A 8.237e-06 21:42754075 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 intron_variant 0.035539 0.2183 0.03799 0.06567 0.4443739 0.0753952 0.002017364 FALSE 8.1943e-06 ENSE00002404122_036 ENSE00002404122 036 21 44174047 44174216 + 53 75 42 C T 44174187 336 141 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGTTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 42754076 42754077 42754077 downstr_intron 13 1.317073 CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGTTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA mutant NA NA NA NA NA 122 344 0.9792675 0.8657446 0.9225061 0.9781128 0.9878244 0.8521572 0.9967165 NA NA 0.1271103 -0.1309719 0.9829686 0.9244369 NA -0.001930821 NA FALSE NA 0 0.176 . downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 rs369499989 1 NA T:0.0002 T:0 GCT C,T 2.471e-05 21:42754077 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003642531 intron_variant -0.123417 0.15766 0.00366 0.06567 0.4489523 0.0753952 0.002017364 FALSE 2.05221e-05 ENSE00002404122_BRK ENSE00002404122 BRK 21 44174047 44174216 + 53 75 42 A,G; T,T NA NA NA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTTTTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGCCAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA 42753936 42754106 NA NA NA NA NA NA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTTTTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGCCAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA CACTGTCACAGGCCCACGGCGCCTGGTTAACACGGAACTCCTGTCCTTTCTAGTACCTGCTCTCTCCAGAGACCATCGAGGCCCTGCGGAAGCCGACCTTTGACGTCTGGCTTTGGGAGCCCAATGAGGTAAGTGCGGGGCTTGCAGGCACCACGTCCCAGGGGGAGGCA control NA NA NA NA NA 373 267 0 0.001200072 0.0006000358 0.9781128 0.9878244 0.8521572 0.9967165 NA NA -0.8521572 -0.9955164 0.9829686 0.9244369 NA -0.9238368 NA TRUE NA NA NA NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE9A NA NA NA ENSG00000160191 ENSE00003642531 NA NA NA NA NA NA NA 0.002017364 FALSE NA ENSE00002404962_000 ENSE00002404962 000 3 62647950 62648119 - 39 81 50 NA NA NA NA NA TGGCCTGGACCCCAGCAAACAACCACAATGTTTCCTTACCCTGGCTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGGCTGCTTGCTCATCTGGATTGTCCAGCTGCACAAAAGCACAGACATTGAGACTTTTAGTTTGGGTCACAAGTGCCA 62662274 62662444 NA NA NA NA NA NA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA natural 77 68 0.9858819 0.9979227 0.9919023 1845 3074 0.9369202 0.9956393 0.9662797 0.9858819 0.9979227 0.9369202 0.9956393 0 0 0 0 0.9919023 0.9662797 0 0 0 FALSE FALSE NA NA NA NA NA CADPS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CADPS NA NA NA ENSG00000163618 ENSE00002404962 NA NA NA NA NA NA NA 0.05281647 FALSE NA ENSE00002404962_001 ENSE00002404962 001 3 62647950 62648119 - 39 81 50 C A 62647965 1949 155 TGGCCTGGACCCCAGAAAACAACCACAATGTTTCCTTACCCTGGCTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGGCTGCTTGCTCATCTGGATTGTCCAGCTGCACAAAAGCACAGACATTGAGACTTTTAGTTTGGGTCACAAGTGCCA 62662274 62662444 62662289 62662290 62662290 downstr_intron 24 1.631579 TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTTCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA mutant NA NA NA NA NA 616 172 0.9910544 1 0.9955272 0.9858819 0.9979227 0.9369202 0.9956393 NA NA 0.05413425 0.004360692 0.9919023 0.9662797 NA 0.02924747 NA FALSE NA 0 -0.314 . intron_variant MODIFIER CADPS HGNC 1426 ENST00000357948 4/26 1 NA GCA C,A 9.884e-05 3:62662290 CADPS HGNC Symbol protein_coding 477043 ENSG00000163618 ENSE00002404962 intron_variant 0.185638 0.16478 0.05966 0.078448 0.7295529 0.0851235 0.05281647 FALSE 8.95073e-05 ENSE00002404962_003 ENSE00002404962 003 3 62647950 62648119 - 39 81 50 G A 62647993 1951 127 TGGCCTGGACCCCAGCAAACAACCACAATGTTTCCTTACCCTGACTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGGCTGCTTGCTCATCTGGATTGTCCAGCTGCACAAAAGCACAGACATTGAGACTTTTAGTTTGGGTCACAAGTGCCA 62662274 62662444 62662317 62662318 62662318 exon -5 0.9506173 TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGTCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA mutant NA NA NA NA NA 81 342 1 1 1 0.9858819 0.9979227 0.9369202 0.9956393 NA NA 0.06307985 0.004360692 0.9919023 0.9662797 NA 0.03372027 NA FALSE NA 1 8.978 . missense_variant MODERATE CADPS HGNC 1426 ENST00000357948 4/27 1 tolerated(0.12) benign(0.168) NA GGC G,A 8.236e-06 3:62662318 CADPS HGNC Symbol protein_coding 477043 ENSG00000163618 ENSE00002404962 missense_variant 5.450603 0.99447 0.98299 0.615465 0.9990045 0 0.05281647 FALSE 8.13101e-06 ENSE00002404962_012 ENSE00002404962 012 3 62647950 62648119 - 39 81 50 G T 62648044 1960 76 TGGCCTGGACCCCAGCAAACAACCACAATGTTTCCTTACCCTGGCTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGTCTGCTTGCTCATCTGGATTGTCCAGCTGCACAAAAGCACAGACATTGAGACTTTTAGTTTGGGTCACAAGTGCCA 62662274 62662444 62662368 62662369 62662369 exon 26 0.3209877 TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGACCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA mutant NA NA NA NA NA 133 87 0.9906667 1 0.9953333 0.9858819 0.9979227 0.9369202 0.9956393 NA NA 0.0537465 0.004360692 0.9919023 0.9662797 NA 0.0290536 NA FALSE NA 1 8.978 . missense_variant MODERATE CADPS HGNC 1426 ENST00000357948 4/27 1 deleterious(0) probably_damaging(1) NA GGC G,T 8.236e-06 3:62662369 CADPS HGNC Symbol protein_coding 477043 ENSG00000163618 ENSE00002404962 missense_variant 5.512923 0.99461 0.98529 0.615465 0.9979127 0 0.05281647 FALSE 4.06593e-06 ENSE00002404962_013 ENSE00002404962 013 3 62647950 62648119 - 39 81 50 T C 62648058 1961 62 TGGCCTGGACCCCAGCAAACAACCACAATGTTTCCTTACCCTGGCTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGGCTGCTTGCTCATCCGGATTGTCCAGCTGCACAAAAGCACAGACATTGAGACTTTTAGTTTGGGTCACAAGTGCCA 62662274 62662444 62662382 62662383 62662383 exon 12 0.1481481 TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCGGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA mutant NA NA NA NA NA 247 119 1 0.9792043 0.9896021 0.9858819 0.9979227 0.9369202 0.9956393 NA NA 0.06307985 -0.01643505 0.9919023 0.9662797 NA 0.0233224 NA FALSE NA 0.036 -0.557 . synonymous_variant LOW CADPS HGNC 1426 ENST00000357948 4/27 1 NA CTG T,C 1.647e-05 3:62662383 CADPS HGNC Symbol protein_coding 477043 ENSG00000163618 ENSE00002404962 synonymous_variant 0.60939 0.90601 0.12372 0.615465 0.7314737 0 0.05281647 FALSE 4.06633e-06 ENSE00002404962_014 ENSE00002404962 014 3 62647950 62648119 - 39 81 50 T C 62648062 1962 58 TGGCCTGGACCCCAGCAAACAACCACAATGTTTCCTTACCCTGGCTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGGCTGCTTGCTCATCTGGACTGTCCAGCTGCACAAAAGCACAGACATTGAGACTTTTAGTTTGGGTCACAAGTGCCA 62662274 62662444 62662386 62662387 62662387 exon 8 0.09876543 TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAGTCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA mutant NA NA NA NA NA 209 97 1 0.998366 0.999183 0.9858819 0.9979227 0.9369202 0.9956393 NA NA 0.06307985 0.002726739 0.9919023 0.9662797 NA 0.03290329 NA FALSE NA 1 7.311 . missense_variant MODERATE CADPS HGNC 1426 ENST00000357948 4/27 1 tolerated(0.31) benign(0.28) NA ATT T,C 8.237e-06 3:62662387 CADPS HGNC Symbol protein_coding 477043 ENSG00000163618 ENSE00002404962 missense_variant 2.034301 0.99245 0.96767 0.615465 0.9979935 0 0.05281647 FALSE 8.13359e-06 ENSE00002404962_015 ENSE00002404962 015 3 62647950 62648119 - 39 81 50 G A 62648085 1963 35 TGGCCTGGACCCCAGCAAACAACCACAATGTTTCCTTACCCTGGCTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGGCTGCTTGCTCATCTGGATTGTCCAGCTGCACAAAAGCACAAACATTGAGACTTTTAGTTTGGGTCACAAGTGCCA 62662274 62662444 62662409 62662410 62662410 upstr_intron -16 -0.3 TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTTTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA mutant NA NA NA NA NA 246 401 0.9972922 1 0.9986461 0.9858819 0.9979227 0.9369202 0.9956393 NA NA 0.06037205 0.004360692 0.9919023 0.9662797 NA 0.03236637 NA FALSE NA 0.984 0.302 . intron_variant MODIFIER CADPS HGNC 1426 ENST00000357948 3/26 1 NA AGA G,A 8.237e-06 3:62662410 CADPS HGNC Symbol protein_coding 477043 ENSG00000163618 ENSE00002404962 intron_variant 1.440906 0.25635 0.14816 0.06567 0.7455739 0.0937905 0.05281647 FALSE 4.06964e-06 ENSE00002404962_016 ENSE00002404962 016 3 62647950 62648119 - 39 81 50 T C 62648089 1964 31 TGGCCTGGACCCCAGCAAACAACCACAATGTTTCCTTACCCTGGCTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGGCTGCTTGCTCATCTGGATTGTCCAGCTGCACAAAAGCACAGACACTGAGACTTTTAGTTTGGGTCACAAGTGCCA 62662274 62662444 62662413 62662414 62662414 upstr_intron -20 -0.38 TGGCACTTGTGACCCAAACTAAAAGTCTCAGTGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA mutant NA NA NA NA NA 113 449 1 0.9856432 0.9928216 0.9858819 0.9979227 0.9369202 0.9956393 NA NA 0.06307985 -0.009996158 0.9919023 0.9662797 NA 0.02654184 NA FALSE NA 0.005 -0.715 . intron_variant MODIFIER CADPS HGNC 1426 ENST00000357948 3/26 1 NA ATT T,C 4.118e-05 3:62662414 CADPS HGNC Symbol protein_coding 477043 ENSG00000163618 ENSE00002404962 intron_variant 1.033029 0.20447 0.03482 0.06567 0.8035862 0.0832456 0.05281647 FALSE 2.84893e-05 ENSE00002404962_018 ENSE00002404962 018 3 62647950 62648119 - 39 81 50 T C 62648098 1966 22 TGGCCTGGACCCCAGCAAACAACCACAATGTTTCCTTACCCTGGCTATTTGGTCTGCCATTTGTAGACGTCCATCCAGCTCTCGTCTGATCTGGGCTGCTTGCTCATCTGGATTGTCCAGCTGCACAAAAGCACAGACATTGAGACTTCTAGTTTGGGTCACAAGTGCCA 62662274 62662444 62662422 62662423 62662423 upstr_intron -29 -0.56 TGGCACTTGTGACCCAAACTAGAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA TGGCACTTGTGACCCAAACTAAAAGTCTCAATGTCTGTGCTTTTGTGCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTACAAATGGCAGACCAAATAGCCAGGGTAAGGAAACATTGTGGTTGTTTGCTGGGGTCCAGGCCA mutant NA NA NA NA NA 46 354 1 1 1 0.9858819 0.9979227 0.9369202 0.9956393 NA NA 0.06307985 0.004360692 0.9919023 0.9662797 NA 0.03372027 NA FALSE NA 0.088 2.155 . intron_variant MODIFIER CADPS HGNC 1426 ENST00000357948 3/26 rs546922806 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 TTT T,C 8.237e-06 3:62662423 CADPS HGNC Symbol protein_coding 477043 ENSG00000163618 ENSE00002404962 intron_variant 0.562368 0.39304 0.37883 0.06567 0.7466537 0.874787 0.05281647 FALSE 4.07319e-06 ENSE00002405732_000 ENSE00002405732 000 12 105611394 105611563 - 50 60 60 NA NA NA NA NA TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 NA NA NA NA NA NA TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT natural NA NA NA NA NA 2180 1673 0.9882253 0.8714779 0.9298516 NA NA 0.9882253 0.8714779 NA NA 0 0 NA 0.9298516 NA 0 NA FALSE NA NA NA NA NA NA APPL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APPL2 NA NA NA ENSG00000136044 ENSE00003609369 NA NA NA NA NA NA NA 3.52823e-09 FALSE NA ENSE00002405732_007 ENSE00002405732 007 12 105611394 105611563 - 50 60 60 T C 105611448 3045 116 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAGACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 105217669 105217670 105217670 exon -5 0.9333333 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAGACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT mutant NA NA NA NA NA 1423 17 0.904878 1 0.952439 NA NA 0.9882253 0.8714779 NA NA -0.08334729 0.1285221 NA 0.9298516 NA 0.0225874 NA FALSE NA 1 6.198 rs36126236 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 3/18 rs36126236 1 C:0.0006 C:0 C:0.0014 NA C:0 C:0.002 C:0 C:0.0002 C:0.0017 TTT T,C 0.001252 12:105217670 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003609369 missense_variant 2.691616 0.98629 0.96768 0.732398 0.9963167 0 3.52823e-09 FALSE 0.00129664 ENSE00002405732_008 ENSE00002405732 008 12 105611394 105611563 - 50 60 60 A C 105611463 3046 101 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACGGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 105217684 105217685 105217685 exon -20 0.6833333 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACGGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT mutant NA NA NA NA NA 78 440 1 0.9996404 0.9998202 NA NA 0.9882253 0.8714779 NA NA 0.01177475 0.1281625 NA 0.9298516 NA 0.06996862 NA FALSE NA 1 7.198 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 3/18 1 NA CAG A,C 8.236e-06 12:105217685 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003609369 missense_variant 6.220785 0.98708 0.98169 0.732398 0.9970158 0 3.52823e-09 FALSE 4.06494e-06 ENSE00002405732_012 ENSE00002405732 012 12 105611394 105611563 - 50 60 60 C T 105611493 3050 71 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTACCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 105217714 105217715 105217715 exon 11 0.1833333 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTACCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT mutant NA NA NA NA NA 108 1286 1 0.9991372 0.9995686 NA NA 0.9882253 0.8714779 NA NA 0.01177475 0.1276592 NA 0.9298516 NA 0.069717 NA FALSE NA 1 4.189 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 3/18 1 NA GCA C,T 1.647e-05 12:105217715 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003609369 missense_variant 6.062512 0.98063 0.93709 0.732398 0.9951739 0 3.52823e-09 FALSE 1.62685e-05 ENSE00002405732_015 ENSE00002405732 015 12 105611394 105611563 - 50 60 60 T C 105611507 3053 57 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCGCAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 105217728 105217729 105217729 upstr_intron -4 -0.05 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCGCAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT mutant NA NA NA NA NA 58 796 1 0.8675855 0.9337928 NA NA 0.9882253 0.8714779 NA NA 0.01177475 -0.00389239 NA 0.9298516 NA 0.003941178 NA FALSE NA 0.002 -1.586 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW APPL2 HGNC 18242 ENST00000547809 2/17 1 NA GTG T,C 8.236e-06 12:105217729 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003609369 splice_region_variant 0.644207 0.10923 0.01566 0.106106 0.6770816 0.336309 3.52823e-09 FALSE 4.071e-06 ENSE00002405732_019 ENSE00002405732 019 12 105611394 105611563 - 50 60 60 G T 105611518 3057 46 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTATCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 105217739 105217740 105217740 upstr_intron -15 -0.2333333 TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTATCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT mutant NA NA NA NA NA 12 57 1 1 1 NA NA 0.9882253 0.8714779 NA NA 0.01177475 0.1285221 NA 0.9298516 NA 0.07014842 NA FALSE NA 0.432 0.912 NA NA NA APPL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:105217740 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003609369 intron_variant 1.380338 0.19765 0.19686 0.088506 0.8166636 0.198599 3.52823e-09 FALSE 1.22581e-05 ENSE00002405732_021 ENSE00002405732 021 12 105611394 105611563 - 50 60 60 C T 105611539 3059 25 TTTTCAGTGACTATGTATACATTGAACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 105217760 105217761 105217761 upstr_intron -36 -0.5833333 TTTTCAGTGACTATGTATACATTGAACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT mutant NA NA NA NA NA 61 173 1 1 1 NA NA 0.9882253 0.8714779 NA NA 0.01177475 0.1285221 NA 0.9298516 NA 0.07014842 NA FALSE NA 0 -0.22 . intron_variant&non_coding_transcript_variant MODIFIER APPL2 HGNC 18242 ENST00000547809 2/17 1 NA TCC C,T 1.647e-05 12:105217761 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003609369 intron_variant 0.289623 0.26967 0.09453 0.088506 0.4081225 0.0683494 3.52823e-09 FALSE 8.20701e-06 ENSE00002405732_024 ENSE00002405732 024 12 105611394 105611563 - 50 60 60 T C 105611551 3062 13 TTTTCAGTGACTGTGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 105217772 105217773 105217773 upstr_intron -48 -0.7833333 TTTTCAGTGACTGTGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT mutant NA NA NA NA NA 25 78 1 1 1 NA NA 0.9882253 0.8714779 NA NA 0.01177475 0.1285221 NA 0.9298516 NA 0.07014842 NA FALSE NA 0 -5.057 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:105217773 APPL2 HGNC Symbol protein_coding 62942 ENSG00000136044 ENSE00003609369 intron_variant -0.902707 0.05543 0.00853 0.088506 0.3244667 0.0625886 3.52823e-09 FALSE 0.019786 ENSE00002405732_025 ENSE00002405732 025 12 105611394 105611563 - 50 60 60 T G 105611551 3063 13 TTTTCAGTGACTCTGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT 105217615 105217785 105217772 105217773 105217773 upstr_intron -48 -0.7833333 TTTTCAGTGACTCTGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT TTTTCAGTGACTATGTATACATTGGACTAATCTTACTTGCTTTTTCTCTTCTCTCCACAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGGTAACTTGGTATTTATGTGGCCTGTGATGCTGCTGTGTTCAGGACTTTCT mutant NA NA NA NA NA 361 24 0.9979298 1 0.9989649 NA NA 0.9882253 0.8714779 NA NA 0.009704519 0.1285221 NA 0.9298516 NA 0.06911331 NA FALSE NA 0 -5.057 NA NA NA APPL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APPL2 NA NA NA ENSG00000136044 ENSE00003609369 intron_variant -0.773322 0.06261 0.01676 0.088506 0.3378543 0.0625886 3.52823e-09 FALSE 4.16285e-06 ENSE00002405759_000 ENSE00002405759 000 7 148508685 148508854 - 32 96 42 NA NA NA NA NA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA 148811592 148811762 NA NA NA NA NA NA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA natural NA NA NA NA NA 1241 1287 0.9338971 0.9912889 0.962593 NA NA 0.9338971 0.9912889 NA NA 0 0 NA 0.962593 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EZH2 NA NA NA ENSG00000106462 ENSE00003574435 NA NA NA NA NA NA NA 0.9999901 TRUE NA ENSE00002405759_001 ENSE00002405759 001 7 148508685 148508854 - 32 96 42 G A 148508708 3009 147 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCATTGATAACCTGTATTCAGGTGGCA 148811592 148811762 148811615 148811616 148811616 downstr_intron 9 1.290323 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCATTGATAACCTGTATTCAGGTGGCA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA mutant NA NA NA NA NA 108 851 1 0.9981451 0.9990726 NA NA 0.9338971 0.9912889 NA NA 0.06610286 0.006856238 NA 0.962593 NA 0.03647955 NA FALSE NA 0 -0.031 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:148811616 EZH2 HGNC Symbol protein_coding 76938 ENSG00000106462 ENSE00003574435 intron_variant 1.087417 0.18948 0.00877 0.295142 0.6460926 0.146995 0.9999901 TRUE 1.22222e-05 ENSE00002405759_002 ENSE00002405759 002 7 148508685 148508854 - 32 96 42 G C 148508708 3010 147 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCAGTGATAACCTGTATTCAGGTGGCA 148811592 148811762 148811615 148811616 148811616 downstr_intron 9 1.290323 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCAGTGATAACCTGTATTCAGGTGGCA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA mutant NA NA NA NA NA 536 554 0.9945783 0.9991019 0.9968401 NA NA 0.9338971 0.9912889 NA NA 0.06068113 0.007813041 NA 0.962593 NA 0.03424709 NA FALSE NA 0 -0.031 NA NA NA EZH2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EZH2 NA NA NA ENSG00000106462 ENSE00003574435 intron_variant 0.828609 0.15283 0.01848 0.295142 0.7333077 0.146995 0.9999901 TRUE 4.07408e-06 ENSE00002405759_003 ENSE00002405759 003 7 148508685 148508854 - 32 96 42 G A 148508710 3011 145 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGTACTGATAACCTGTATTCAGGTGGCA 148811592 148811762 148811617 148811618 148811618 downstr_intron 7 1.225806 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGTACTGATAACCTGTATTCAGGTGGCA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA mutant NA NA NA NA NA 199 105 1 1 1 NA NA 0.9338971 0.9912889 NA NA 0.06610286 0.0087111 NA 0.962593 NA 0.03740698 NA FALSE NA 0.994 3.057 . splice_region_variant&intron_variant LOW EZH2 HGNC 3527 ENST00000541220 15/18 1 NA TGC G,A 8.236e-06 7:148811618 EZH2 HGNC Symbol protein_coding 76938 ENSG00000106462 ENSE00003574435 splice_region_variant 0.899711 0.22652 0.27638 0.295142 0.6985661 0.147063 0.9999901 TRUE 4.07372e-06 ENSE00002405759_014 ENSE00002405759 014 7 148508685 148508854 - 32 96 42 G A 148508818 3022 37 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTTTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA 148811592 148811762 148811725 148811726 148811726 upstr_intron -6 -0.1190476 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTTTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA mutant NA NA NA NA NA 107 66 1 1 1 NA NA 0.9338971 0.9912889 NA NA 0.06610286 0.0087111 NA 0.962593 NA 0.03740698 NA FALSE NA 1 1.604 rs78589034 splice_region_variant&intron_variant LOW EZH2 HGNC 3527 ENST00000541220 14/18 rs78589034 1 A:0.0006 A:0 A:0 NA A:0 A:0.003 A:0 A:0.0002 A:0.0034 AGA G,A 0.001845 7:148811726 EZH2 HGNC Symbol protein_coding 76938 ENSG00000106462 ENSE00003574435 splice_region_variant 1.190272 0.6895 0.51423 0.099367 0.7441409 0.169418 0.9999901 TRUE 0.0018702 ENSE00002405759_015 ENSE00002405759 015 7 148508685 148508854 - 32 96 42 T C 148508821 3023 34 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTGTTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA 148811592 148811762 148811728 148811729 148811729 upstr_intron -9 -0.1904762 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTGTTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA mutant NA NA NA NA NA 61 265 1 0.909071 0.9545355 NA NA 0.9338971 0.9912889 NA NA 0.06610286 -0.08221786 NA 0.962593 NA -0.0080575 NA FALSE NA 0 -2.921 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:148811729 EZH2 HGNC Symbol protein_coding 76938 ENSG00000106462 ENSE00003574435 non_coding_transcript_exon_variant 0.947798 0.06912 0.01689 0.099367 0.5946415 0.072642 0.9999901 TRUE 0.00170574 ENSE00002405759_016 ENSE00002405759 016 7 148508685 148508854 - 32 96 42 T G 148508821 3024 34 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTCTTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA 148811592 148811762 148811728 148811729 148811729 upstr_intron -9 -0.1904762 CACCCTCCTTTTTTGATGATGTGATTGTGTTTTCTTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA mutant NA NA NA NA NA 120 192 1 1 1 NA NA 0.9338971 0.9912889 NA NA 0.06610286 0.0087111 NA 0.962593 NA 0.03740698 NA FALSE NA 0 -2.921 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EZH2 NA NA NA ENSG00000106462 ENSE00003574435 non_coding_transcript_exon_variant 1.181652 0.06122 0.01227 0.099367 0.6347439 0.072642 0.9999901 TRUE 4.96816e-05 ENSE00002405759_BRK ENSE00002405759 BRK 7 148508685 148508854 - 32 96 42 A,G; T,T NA NA NA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTTTCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGCCAAGGCACTGATAACCTGTATTCAGGTGGCA 148811592 148811762 NA NA NA NA NA NA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTTTCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGCCAAGGCACTGATAACCTGTATTCAGGTGGCA CACCCTCCTTTTTTGATGATGTGATTGTGTTTTATTCTCTAGCATCTATTGCTGGCACCATCTGACGTGGCAGGCTGGGGGATTTTTATCAAAGATCCTGTGCAGAAAAATGAATTCATCTCAGAATACTGTGGAGAGGTAAGGCACTGATAACCTGTATTCAGGTGGCA control NA NA NA NA NA 167 431 0 0 0 NA NA 0.9338971 0.9912889 NA NA -0.9338971 -0.9912889 NA 0.962593 NA -0.962593 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003574435 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00002405816_000 ENSE00002405816 000 2 171715269 171715438 + 45 90 35 NA NA NA NA NA CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 NA NA NA NA NA NA CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG natural 58 54 0.9961906 1 0.9980953 4953 5079 0.9714255 0.9216145 0.94652 0.9961906 1 0.9714255 0.9216145 0 0 0 0 0.9980953 0.94652 0 0 0 FALSE FALSE NA NA NA NA NA GAD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAD1 NA NA NA ENSG00000128683 ENSE00003679612 NA NA NA NA NA NA NA 0.8225402 FALSE NA ENSE00002405816_001 ENSE00002405816 001 2 171715269 171715438 + 45 90 35 T G 171715287 3166 19 CAAGTTATCCTAATTTTCGTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858776 170858777 170858777 upstr_intron -27 -0.5777778 CAAGTTATCCTAATTTTCGTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 1933 3814 0.9949386 0.9949425 0.9949406 0.9961906 1 0.9714255 0.9216145 NA NA 0.02351313 0.07332802 0.9980953 0.94652 NA 0.04842058 NA FALSE NA 0.395 3.853 . intron_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 14/15 rs371313114 1 NA G:0 G:0.0002 CTT T,G 1.647e-05 2:170858777 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 intron_variant 0.094333 0.28981 0.35227 0.074636 0.6157622 0.110648 0.8225402 FALSE 8.163e-06 ENSE00002405816_002 ENSE00002405816 002 2 171715269 171715438 + 45 90 35 C A 171715306 3167 38 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATATCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858795 170858796 170858796 upstr_intron -8 -0.1555556 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATATCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 1352 393 0.9442172 0.9972416 0.9707294 0.9961906 1 0.9714255 0.9216145 NA NA -0.02720835 0.07562711 0.9980953 0.94652 NA 0.02420938 NA FALSE NA 0.219 -0.141 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GAD1 HGNC 4092 ENST00000414527 14/15 1 NA TCT C,A 8.236e-06 2:170858796 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 splice_region_variant 1.948892 0.87679 0.41033 0.074636 0.7872665 0.153979 0.8225402 FALSE 4.06418e-06 ENSE00002405816_003 ENSE00002405816 003 2 171715269 171715438 + 45 90 35 C A 171715324 3168 56 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACAAAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858813 170858814 170858814 exon 11 0.1222222 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACAAAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 1118 2091 0.9972061 0.9982634 0.9977347 0.9961906 1 0.9714255 0.9216145 NA NA 0.02578061 0.07664882 0.9980953 0.94652 NA 0.05121472 NA FALSE NA 1 7.487 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA ACA C,A 8.236e-06 2:170858814 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 7.713134 0.99488 0.99234 0.553676 0.9952551 0 0.8225402 FALSE 4.06151e-06 ENSE00002405816_005 ENSE00002405816 005 2 171715269 171715438 + 45 90 35 G A 171715329 3170 61 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACATCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858818 170858819 170858819 exon 16 0.1777778 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACATCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 855 455 0.9958355 0.9984695 0.9971525 0.9961906 1 0.9714255 0.9216145 NA NA 0.02440998 0.07685496 0.9980953 0.94652 NA 0.05063247 NA FALSE NA 1 6.46 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA CGT G,A 1.647e-05 2:170858819 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 3.238134 0.9911 0.98493 0.553676 0.9798122 0 0.8225402 FALSE 1.62454e-05 ENSE00002405816_006 ENSE00002405816 006 2 171715269 171715438 + 45 90 35 C T 171715331 3171 63 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTTTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858820 170858821 170858821 exon 18 0.2 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTTTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 518 1189 0.9943859 0.999936 0.9971609 0.9961906 1 0.9714255 0.9216145 NA NA 0.02296038 0.07832143 0.9980953 0.94652 NA 0.05064091 NA FALSE NA 0.983 0.115 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA TCT C,T 8.236e-06 2:170858821 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 synonymous_variant 2.143336 0.97009 0.76452 0.553676 0.7440006 0 0.8225402 FALSE 4.06134e-06 ENSE00002405816_007 ENSE00002405816 007 2 171715269 171715438 + 45 90 35 G T 171715333 3172 65 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTTTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858822 170858823 170858823 exon 20 0.2222222 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTTTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 100 434 1 1 1 0.9961906 1 0.9714255 0.9216145 NA NA 0.0285745 0.07838547 0.9980953 0.94652 NA 0.05347999 NA FALSE NA 1 9.477 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 rs544356365 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TGT G,T 8.236e-06 2:170858823 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 7.330779 0.99499 0.99493 0.553676 0.9898953 0 0.8225402 FALSE 2.03069e-05 ENSE00002405816_008 ENSE00002405816 008 2 171715269 171715438 + 45 90 35 A G 171715349 3173 81 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCGCAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858838 170858839 170858839 exon 36 0.4 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCGCAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 1244 2777 0.9937843 0.9464649 0.9701246 0.9961906 1 0.9714255 0.9216145 NA NA 0.02235882 0.0248504 0.9980953 0.94652 NA 0.02360461 NA FALSE NA 0.657 -0.041 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA CAC A,G 7.413e-05 2:170858839 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 synonymous_variant 0.608922 0.97187 0.68058 0.553676 0.7500561 0 0.8225402 FALSE 6.09142e-05 ENSE00002405816_009 ENSE00002405816 009 2 171715269 171715438 + 45 90 35 C A 171715358 3174 90 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTAAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858847 170858848 170858848 exon 45 0.5 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTAAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 898 309 0.9731706 0.9990086 0.9860896 0.9961906 1 0.9714255 0.9216145 NA NA 0.001745068 0.07739406 0.9980953 0.94652 NA 0.03956956 NA FALSE NA 0.324 -0.255 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA TCA C,A 8.236e-06 2:170858848 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 synonymous_variant 2.088887 0.97452 0.43744 0.553676 0.739526 0 0.8225402 FALSE 1.21827e-05 ENSE00002405816_011 ENSE00002405816 011 2 171715269 171715438 + 45 90 35 C A 171715368 3176 100 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGACAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858857 170858858 170858858 exon -36 0.6111111 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGACAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 440 659 1 0.9995947 0.9997974 0.9961906 1 0.9714255 0.9216145 NA NA 0.0285745 0.0779802 0.9980953 0.94652 NA 0.05327735 NA FALSE NA 1 5.778 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA GCC C,A 8.236e-06 2:170858858 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 3.6148 0.99566 0.9902 0.553676 0.9853547 0 0.8225402 FALSE 4.06111e-06 ENSE00002405816_012 ENSE00002405816 012 2 171715269 171715438 + 45 90 35 G A 171715375 3177 107 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAACCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858864 170858865 170858865 exon -29 0.6888889 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAACCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 1577 1973 0.9664719 0.9979101 0.982191 0.9961906 1 0.9714255 0.9216145 NA NA -0.004953603 0.0762956 0.9980953 0.94652 NA 0.035671 NA FALSE NA 1 3.179 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA AGC G,A 8.236e-06 2:170858865 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 2.174529 0.98491 0.95008 0.553676 0.8063735 0 0.8225402 FALSE 4.06108e-06 ENSE00002405816_013 ENSE00002405816 013 2 171715269 171715438 + 45 90 35 C T 171715377 3178 109 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCTCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858866 170858867 170858867 exon -27 0.7111111 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCTCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 832 520 1 0.895358 0.947679 0.9961906 1 0.9714255 0.9216145 NA NA 0.0285745 -0.02625652 0.9980953 0.94652 NA 0.001158989 NA FALSE NA 1 3.516 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 COSM3719667 1 NA CCC C,T 8.236e-06 2:170858867 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 2.969396 0.98547 0.96464 0.553676 0.9872888 0 0.8225402 FALSE 4.06088e-06 ENSE00002405816_014 ENSE00002405816 014 2 171715269 171715438 + 45 90 35 C T 171715378 3179 110 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCTTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858867 170858868 170858868 exon -26 0.7222222 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCTTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 679 148 0.8340132 1 0.9170066 0.9961906 1 0.9714255 0.9216145 NA NA -0.1374123 0.07838547 0.9980953 0.94652 NA -0.02951341 NA FALSE NA 1 4.359 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA CCT C,T 1.647e-05 2:170858868 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 3.487681 0.98407 0.95532 0.553676 0.964906 0 0.8225402 FALSE 8.12203e-06 ENSE00002405816_015 ENSE00002405816 015 2 171715269 171715438 + 45 90 35 A G 171715382 3180 114 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAGCGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858871 170858872 170858872 exon -22 0.7666667 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAGCGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 585 723 1 0.9935369 0.9967684 0.9961906 1 0.9714255 0.9216145 NA NA 0.0285745 0.07192232 0.9980953 0.94652 NA 0.05024841 NA FALSE NA 1 0.621 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA AAC A,G 8.236e-06 2:170858872 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 synonymous_variant 0.49509 0.94414 0.11242 0.553676 0.4487797 0 0.8225402 FALSE 4.06108e-06 ENSE00002405816_017 ENSE00002405816 017 2 171715269 171715438 + 45 90 35 G A 171715384 3182 116 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACAACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858873 170858874 170858874 exon -20 0.7888889 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACAACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 845 1893 0.9860264 0.9965895 0.991308 0.9961906 1 0.9714255 0.9216145 NA NA 0.0146009 0.07497501 0.9980953 0.94652 NA 0.04478795 NA FALSE NA 1 5.157 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 COSM353048 1 NA CGA G,A 8.236e-06 2:170858874 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 4.409923 0.98787 0.97622 0.553676 0.9993022 0 0.8225402 FALSE NA ENSE00002405816_018 ENSE00002405816 018 2 171715269 171715438 + 45 90 35 C T 171715386 3183 118 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGATGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858875 170858876 170858876 exon -18 0.8111111 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGATGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 1604 643 0.9991059 0.990772 0.9949389 0.9961906 1 0.9714255 0.9216145 NA NA 0.02768042 0.06915744 0.9980953 0.94652 NA 0.04841893 NA FALSE NA 1 1.328 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/16 1 NA ACG C,T 1.647e-05 2:170858876 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 5.252526 0.98606 0.97839 0.553676 0.9878862 0 0.8225402 FALSE 2.84287e-05 ENSE00002405816_019 ENSE00002405816 019 2 171715269 171715438 + 45 90 35 G A 171715387 3184 119 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACAGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858876 170858877 170858877 exon -17 0.8222222 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACAGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 638 712 1 1 1 0.9961906 1 0.9714255 0.9216145 NA NA 0.0285745 0.07838547 0.9980953 0.94652 NA 0.05347999 NA FALSE NA 1 4.305 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:170858877 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 missense_variant 3.53135 0.98519 0.97785 0.553676 0.9758536 0 0.8225402 FALSE 0.0143657 ENSE00002405816_020 ENSE00002405816 020 2 171715269 171715438 + 45 90 35 G C 171715387 3185 119 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACCGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858876 170858877 170858877 exon -17 0.8222222 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACCGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 1437 534 0.928478 0.816519 0.8724985 0.9961906 1 0.9714255 0.9216145 NA NA -0.04294751 -0.1050955 0.9980953 0.94652 NA -0.07402151 NA FALSE NA 1 4.305 NA NA NA GAD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAD1 NA NA NA ENSG00000128683 ENSE00003679612 missense_variant 3.971079 0.98732 0.99043 0.553676 0.9812376 0 0.8225402 FALSE 4.06154e-06 ENSE00002405816_021 ENSE00002405816 021 2 171715269 171715438 + 45 90 35 T C 171715407 3186 139 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTACGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858896 170858897 170858897 downstr_intron 4 1.117647 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTACGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 1519 1246 0.9979762 0.9992636 0.9986199 0.9961906 1 0.9714255 0.9216145 NA NA 0.02655066 0.07764905 0.9980953 0.94652 NA 0.05209985 NA FALSE NA 0.684 0.046 . splice_region_variant&intron_variant&NMD_transcript_variant LOW GAD1 HGNC 4092 ENST00000414527 15/15 1 NA ATG T,C 8.236e-06 2:170858897 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 splice_region_variant 0.311171 0.83439 0.70922 0.074636 0.5792154 0.158519 0.8225402 FALSE 4.06253e-06 ENSE00002405816_023 ENSE00002405816 023 2 171715269 171715438 + 45 90 35 C G 171715415 3188 147 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGGTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858904 170858905 170858905 downstr_intron 12 1.352941 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGGTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 210 177 1 1 1 0.9961906 1 0.9714255 0.9216145 NA NA 0.0285745 0.07838547 0.9980953 0.94652 NA 0.05347999 NA FALSE NA 0 -0.738 . intron_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/15 1 NA GCT C,G 8.236e-06 2:170858905 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 intron_variant -0.18962 0.23488 0.06012 0.074636 0.3236144 0.0703196 0.8225402 FALSE 2.84518e-05 ENSE00002405816_024 ENSE00002405816 024 2 171715269 171715438 + 45 90 35 T G 171715416 3189 148 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCGTTTTGTCTCATCTAATCCTCTG 170858758 170858928 170858905 170858906 170858906 downstr_intron 13 1.382353 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCGTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 692 489 0.9762706 1 0.9881353 0.9961906 1 0.9714255 0.9216145 NA NA 0.004845124 0.07838547 0.9980953 0.94652 NA 0.0416153 NA FALSE NA 0 0.366 . intron_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/15 rs200135761 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CTT T,G 8.236e-06 2:170858906 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 intron_variant 0.303571 0.36799 0.1662 0.074636 0.3209632 0.0397658 0.8225402 FALSE 4.06418e-06 ENSE00002405816_025 ENSE00002405816 025 2 171715269 171715438 + 45 90 35 T C 171715419 3190 151 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTCTGTCTCATCTAATCCTCTG 170858758 170858928 170858908 170858909 170858909 downstr_intron 16 1.470588 CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTCTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG mutant NA NA NA NA NA 660 476 0.9986201 0.9994384 0.9990292 0.9961906 1 0.9714255 0.9216145 NA NA 0.02719458 0.07782384 0.9980953 0.94652 NA 0.05250921 NA FALSE NA 0 -0.594 . intron_variant&NMD_transcript_variant MODIFIER GAD1 HGNC 4092 ENST00000414527 15/15 1 NA TTT T,C 8.237e-06 2:170858909 GAD1 HGNC Symbol protein_coding 47938 ENSG00000128683 ENSE00003679612 intron_variant 0.025742 0.23799 0.03713 0.074636 0.5008595 0.0397658 0.8225402 FALSE 4.06507e-06 ENSE00002405816_BRK ENSE00002405816 BRK 2 171715269 171715438 + 45 90 35 A,G; T,T NA NA NA CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCTTCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGCCATGGACTTGCTTTTTGTCTCATCTAATCCTCTG 170858758 170858928 NA NA NA NA NA NA CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCTTCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGCCATGGACTTGCTTTTTGTCTCATCTAATCCTCTG CAAGTTATCCTAATTTTCTTTGTTTGTCTTTTAAAATCTCTGCAGCCTGAGCACACAAACGTCTGTTTTTGGTATATTCCACAAAGCCTCAGGGGTGTGCCAGACAGCCCTCAACGACGGGAAAAGCTACACAAGGTATGGACTTGCTTTTTGTCTCATCTAATCCTCTG control 113 39 0 0 0 598 407 0.004554789 0.0012432 0.002898994 0.9961906 1 0.9714255 0.9216145 -0.9961906 -1 -0.9668707 -0.9203713 0.9980953 0.94652 -0.9980953 -0.943621 0.05447426 TRUE TRUE NA NA NA NA NA GAD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GAD1 NA NA NA ENSG00000128683 ENSE00003679612 NA NA NA NA NA NA NA 0.8225402 FALSE NA ENSE00002406334_000 ENSE00002406334 000 17 80847469 80847638 + 75 30 65 NA NA NA NA NA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 NA NA NA NA NA NA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA natural NA NA NA NA NA 1692 1044 0.9875693 0.9926373 0.9901033 NA NA 0.9875693 0.9926373 NA NA 0 0 NA 0.9901033 NA 0 NA FALSE NA NA NA NA NA NA TBCD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBCD NA NA NA ENSG00000141556 ENSE00003663039 NA NA NA NA NA NA NA 6.984385e-05 FALSE NA ENSE00002406334_001 ENSE00002406334 001 17 80847469 80847638 + 75 30 65 C T 80847497 3680 29 TTTGTTCTGAACTTGCCTCTGGTGTTGGTGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889620 82889621 82889621 upstr_intron -47 -0.6133333 TTTGTTCTGAACTTGCCTCTGGTGTTGGTGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 22 677 1 1 1 NA NA 0.9875693 0.9926373 NA NA 0.0124307 0.007362651 NA 0.9901033 NA 0.009896673 NA FALSE NA 0.982 1.557 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 3/11 1 NA GCG C,T 4.131e-05 17:82889621 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 0.516035 0.92795 0.61096 0.163922 0.6521346 0.266839 6.984385e-05 FALSE 3.665e-05 ENSE00002406334_003 ENSE00002406334 003 17 80847469 80847638 + 75 30 65 G T 80847502 3682 34 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAATCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889625 82889626 82889626 upstr_intron -42 -0.5466667 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAATCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 13 37 1 1 1 NA NA 0.9875693 0.9926373 NA NA 0.0124307 0.007362651 NA 0.9901033 NA 0.009896673 NA FALSE NA 0.131 0.08 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 3/11 1 NA AGC G,T 8.263e-06 17:82889626 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 0.061873 0.89808 0.17052 0.163922 0.6778522 0.374917 6.984385e-05 FALSE 4.06573e-06 ENSE00002406334_005 ENSE00002406334 005 17 80847469 80847638 + 75 30 65 C T 80847510 3684 42 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTTGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889633 82889634 82889634 upstr_intron -34 -0.44 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTTGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 200 241 0.996872 1 0.998436 NA NA 0.9875693 0.9926373 NA NA 0.009302692 0.007362651 NA 0.9901033 NA 0.008332672 NA FALSE NA 0.989 0.015 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 3/11 1 NA TCG C,T 1.653e-05 17:82889634 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 0.796999 0.90414 0.39855 0.322412 0.8063148 0.391597 6.984385e-05 FALSE 8.12883e-06 ENSE00002406334_007 ENSE00002406334 007 17 80847469 80847638 + 75 30 65 C T 80847512 3686 44 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGTTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889635 82889636 82889636 upstr_intron -32 -0.4133333 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGTTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 19 31 1 1 1 NA NA 0.9875693 0.9926373 NA NA 0.0124307 0.007362651 NA 0.9901033 NA 0.009896673 NA FALSE NA 1 1.643 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 3/11 1 NA GCT C,T 2.48e-05 17:82889636 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 1.093917 0.9467 0.74146 0.322412 0.8254736 0.796891 6.984385e-05 FALSE 4.06319e-05 ENSE00002406334_008 ENSE00002406334 008 17 80847469 80847638 + 75 30 65 T C 80847513 3687 45 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCCCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889636 82889637 82889637 upstr_intron -31 -0.4 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCCCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 59 967 0 0.0005228811 0.0002614406 NA NA 0.9875693 0.9926373 NA NA -0.9875693 -0.9921145 NA 0.9901033 NA -0.9898419 NA TRUE NA 1 2.394 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 3/11 1 NA CTC T,C 8.266e-06 17:82889637 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 0.812824 0.95679 0.7917 0.322412 0.7186277 0.81909 6.984385e-05 FALSE 4.06329e-06 ENSE00002406334_010 ENSE00002406334 010 17 80847469 80847638 + 75 30 65 T C 80847527 3689 59 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTCGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889650 82889651 82889651 upstr_intron -17 -0.2133333 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTCGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 61 340 0.912232 0.8907627 0.9014973 NA NA 0.9875693 0.9926373 NA NA -0.07533732 -0.1018747 NA 0.9901033 NA -0.08860599 NA FALSE NA 1 5.315 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 3/11 1 NA TTG T,C 8.269e-06 17:82889651 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 2.0334 0.95671 0.92124 0.322412 0.9052352 0.899876 6.984385e-05 FALSE NA ENSE00002406334_012 ENSE00002406334 012 17 80847469 80847638 + 75 30 65 G A 80847540 3691 72 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCACAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889663 82889664 82889664 upstr_intron -4 -0.04 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCACAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 137 45 0.9996992 1 0.9998496 NA NA 0.9875693 0.9926373 NA NA 0.01212992 0.007362651 NA 0.9901033 NA 0.009746285 NA FALSE NA 0 -0.876 rs116536514 splice_region_variant&intron_variant LOW TBCD HGNC 11581 ENST00000571712 3/11 rs116536514 1 A:0.0014 A:0.0045 A:0 NA A:0 A:0.001 A:0 A:0.003 A:0.0001 CGC G,A 0.0004136 17:82889664 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 splice_region_variant 1.413371 0.37464 0.0606 0.322412 0.8666 0.426589 6.984385e-05 FALSE 0.00034554 ENSE00002406334_013 ENSE00002406334 013 17 80847469 80847638 + 75 30 65 C T 80847541 3692 73 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGTAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889664 82889665 82889665 upstr_intron -3 -0.02666667 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGTAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 112 96 0.999632 1 0.999816 NA NA 0.9875693 0.9926373 NA NA 0.01206267 0.007362651 NA 0.9901033 NA 0.009712663 NA FALSE NA 0.001 -0.534 . splice_region_variant&intron_variant LOW TBCD HGNC 11581 ENST00000571712 3/11 1 NA GCA C,T 1.654e-05 17:82889665 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 splice_region_variant 1.78361 0.42418 0.0231 0.322412 0.8904171 0.447227 6.984385e-05 FALSE 8.12744e-06 ENSE00002406334_014 ENSE00002406334 014 17 80847469 80847638 + 75 30 65 C T 80847546 3693 78 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCTGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889669 82889670 82889670 exon 3 0.1 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCTGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 2090 610 0.996869 1 0.9984345 NA NA 0.9875693 0.9926373 NA NA 0.009299653 0.007362651 NA 0.9901033 NA 0.008331152 NA FALSE NA 0.976 -0.045 . splice_region_variant&5_prime_UTR_variant LOW TBCD HGNC 11581 ENST00000571712 4/12 COSM3523915&COSM3523916 1 NA CCG C,T 1.654e-05 17:82889670 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 splice_region_variant 2.434967 0.89525 0.07626 0.741868 0.9019485 0 6.984385e-05 FALSE 1.21944e-05 ENSE00002406334_016 ENSE00002406334 016 17 80847469 80847638 + 75 30 65 G C 80847562 3695 94 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATCTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889685 82889686 82889686 exon -12 0.6333333 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATCTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 137 292 1 1 1 NA NA 0.9875693 0.9926373 NA NA 0.0124307 0.007362651 NA 0.9901033 NA 0.009896673 NA FALSE NA 1 6.905 . 5_prime_UTR_variant MODIFIER TBCD HGNC 11581 ENST00000571712 4/12 1 NA TGT G,C 8.273e-06 17:82889686 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 missense_variant 6.455789 0.96446 0.92359 0.741868 0.998186 0 6.984385e-05 FALSE 4.06858e-06 ENSE00002406334_018 ENSE00002406334 018 17 80847469 80847638 + 75 30 65 A G 80847592 3697 124 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACGCCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889715 82889716 82889716 downstr_intron 19 1.296875 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACGCCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 353 405 0.9749471 0.9973247 0.9861359 NA NA 0.9875693 0.9926373 NA NA -0.01262223 0.004687395 NA 0.9901033 NA -0.003967417 NA FALSE NA 0 -0.002 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 4/11 1 NA CAC A,G 1.655e-05 17:82889716 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 0.048491 0.28533 0.05313 0.114469 0.6604886 0.124377 6.984385e-05 FALSE 3.27397e-05 ENSE00002406334_019 ENSE00002406334 019 17 80847469 80847638 + 75 30 65 C G 80847601 3698 133 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTGCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889724 82889725 82889725 downstr_intron 28 1.4375 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTGCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 241 111 0.9987985 0.9985725 0.9986855 NA NA 0.9875693 0.9926373 NA NA 0.0112292 0.005935172 NA 0.9901033 NA 0.008582185 NA FALSE NA 0.058 0.884 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 4/11 1 NA TCC C,G 8.276e-06 17:82889725 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 0.339523 0.31607 0.19279 0.114469 0.6031937 0.166577 6.984385e-05 FALSE 1.23441e-05 ENSE00002406334_020 ENSE00002406334 020 17 80847469 80847638 + 75 30 65 T C 80847609 3699 141 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACCTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889732 82889733 82889733 downstr_intron 36 1.5625 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACCTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 157 277 1 0.9715636 0.9857818 NA NA 0.9875693 0.9926373 NA NA 0.0124307 -0.02107374 NA 0.9901033 NA -0.004321522 NA FALSE NA 1 2.898 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 4/11 1 NA CTT T,C 8.277e-06 17:82889733 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 0.530619 0.96369 0.74338 0.099367 0.6722634 0.783259 6.984385e-05 FALSE 1.64562e-05 ENSE00002406334_021 ENSE00002406334 021 17 80847469 80847638 + 75 30 65 C G 80847611 3700 143 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTGCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 82889734 82889735 82889735 downstr_intron 38 1.59375 TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTGCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA mutant NA NA NA NA NA 118 174 0.8996684 1 0.9498342 NA NA 0.9875693 0.9926373 NA NA -0.08790092 0.007362651 NA 0.9901033 NA -0.04026914 NA FALSE NA 1 1.91 . intron_variant MODIFIER TBCD HGNC 11581 ENST00000571712 4/11 1 NA TCC C,G 8.276e-06 17:82889735 TBCD HGNC Symbol protein_coding 193858 ENSG00000141556 ENSE00003663039 intron_variant 0.635474 0.95367 0.75792 0.099367 0.6475343 0.838213 6.984385e-05 FALSE 4.09755e-06 ENSE00002406334_BRK ENSE00002406334 BRK 17 80847469 80847638 + 75 30 65 A,G; T,T NA NA NA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCTTGCCGCCTTCCAGGAGAATGTGGGGAGACAGCCATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA 82889592 82889762 NA NA NA NA NA NA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCTTGCCGCCTTCCAGGAGAATGTGGGGAGACAGCCATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA TTTGTTCTGAACTTGCCTCTGGTGTTGGCGGAAGCTGACCTCGCTCACCTGCTGTGTTTGTTCTTTGCTCCGCAGGCCGCCTTCCAGGAGAATGTGGGGAGACAGGTATGGCTGCTTTCAAACACCTTTATTCCAAAAACTTCCTGCGGGTTTATAGGTAGGAATCTTGA control 18 14 0 0 0 129 505 0 0 0 NA NA 0.9875693 0.9926373 NA NA -0.9875693 -0.9926373 NA 0.9901033 NA -0.9901033 NA TRUE NA NA NA NA NA NA TBCD NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TBCD NA NA NA ENSG00000141556 ENSE00003663039 NA NA NA NA NA NA NA 6.984385e-05 FALSE NA ENSE00002406491_000 ENSE00002406491 000 3 125831595 125831764 - 30 99 41 NA NA NA NA NA AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 NA NA NA NA NA NA AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC natural 11 41 0.9425254 0.9414397 0.9419826 186 70 0.9982164 0.9785543 0.9883854 0.9425254 0.9414397 0.9982164 0.9785543 0 0 0 0 0.9419826 0.9883854 0 0 0 FALSE FALSE NA NA NA NA NA ALDH1L1-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH1L1 NA NA NA ENSG00000144908 ENSE00003477386 NA NA NA NA NA NA NA 9.617837e-06 FALSE NA ENSE00002406491_005 ENSE00002406491 005 3 125831595 125831764 - 30 99 41 C T 125831632 2528 133 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCAGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112788 126112789 126112789 exon -8 0.9292929 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCAGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 32 76 1 1 1 0.9425254 0.9414397 0.9982164 0.9785543 NA NA 0.001783606 0.02144568 0.9419826 0.9883854 NA 0.01161464 NA FALSE NA 0.008 -0.04 rs141756791 downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 rs141756791&COSM1741744 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0001 CCG C,T 2.471e-05 3:126112789 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 missense_variant 2.485538 0.91885 0.02387 0.615465 0.9517953 0 9.617837e-06 FALSE 2.44584e-05 ENSE00002406491_008 ENSE00002406491 008 3 125831595 125831764 - 30 99 41 C T 125831634 2531 131 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTACGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112790 126112791 126112791 exon -10 0.9090909 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTACGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 470 23 0.8771869 1 0.9385935 0.9425254 0.9414397 0.9982164 0.9785543 NA NA -0.1210295 0.02144568 0.9419826 0.9883854 NA -0.04979189 NA FALSE NA 0.013 -0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:126112791 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 synonymous_variant 1.286462 0.9565 0.14878 0.615465 0.742876 0 9.617837e-06 FALSE 4.07435e-06 ENSE00002406491_009 ENSE00002406491 009 3 125831595 125831764 - 30 99 41 C A 125831634 2532 131 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTTCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112790 126112791 126112791 exon -10 0.9090909 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTTCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 14 20 1 1 1 0.9425254 0.9414397 0.9982164 0.9785543 NA NA 0.001783606 0.02144568 0.9419826 0.9883854 NA 0.01161464 NA FALSE NA 0.013 -0.11 NA NA NA ALDH1L1-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH1L1 NA NA NA ENSG00000144908 ENSE00003477386 synonymous_variant 1.525072 0.9613 0.17306 0.615465 0.7062967 0 9.617837e-06 FALSE 4.07435e-06 ENSE00002406491_011 ENSE00002406491 011 3 125831595 125831764 - 30 99 41 G A 125831637 2534 128 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTTGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112793 126112794 126112794 exon -13 0.8787879 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTTGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 31 111 0.9538656 0.995051 0.9744583 0.9425254 0.9414397 0.9982164 0.9785543 NA NA -0.04435075 0.01649664 0.9419826 0.9883854 NA -0.01392705 NA FALSE NA 1 0.891 rs139545472 downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 rs139545472&COSM1037710 1 NA A:0.0005 A:0 CGA G,A 0.0002471 3:126112794 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 synonymous_variant 0.784612 0.91147 0.16862 0.553676 0.8623692 0 9.617837e-06 FALSE 0.000244397 ENSE00002406491_012 ENSE00002406491 012 3 125831595 125831764 - 30 99 41 C T 125831640 2535 125 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAATTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112796 126112797 126112797 exon -16 0.8484848 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAATTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 10 42 1 1 1 0.9425254 0.9414397 0.9982164 0.9785543 NA NA 0.001783606 0.02144568 0.9419826 0.9883854 NA 0.01161464 NA FALSE NA 1 0.918 . downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 1 NA ACT C,T 8.236e-06 3:126112797 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 synonymous_variant 1.132473 0.97112 0.77952 0.553676 0.7638332 0 9.617837e-06 FALSE 4.0711e-06 ENSE00002406491_014 ENSE00002406491 014 3 125831595 125831764 - 30 99 41 A T 125831650 2537 115 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCAATCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112806 126112807 126112807 exon -26 0.7474747 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCAATCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 65 42 1 1 1 0.9425254 0.9414397 0.9982164 0.9785543 NA NA 0.001783606 0.02144568 0.9419826 0.9883854 NA 0.01161464 NA FALSE NA 1 8.827 NA NA NA ALDH1L1-AS1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:126112807 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 missense_variant 5.710122 0.99221 0.98681 0.553676 0.9940189 0 9.617837e-06 FALSE 8.13822e-06 ENSE00002406491_021 ENSE00002406491 021 3 125831595 125831764 - 30 99 41 T C 125831692 2544 73 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGGGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112848 126112849 126112849 exon 32 0.3232323 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGGGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 429 14 0.9734992 0.8 0.8867496 0.9425254 0.9414397 0.9982164 0.9785543 NA NA -0.02471723 -0.1785543 0.9419826 0.9883854 NA -0.1016358 NA FALSE NA 1 7.606 . downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 1 NA CTC T,C 8.236e-06 3:126112849 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 missense_variant 6.128547 0.98883 0.96808 0.553676 0.9993134 0 9.617837e-06 FALSE 4.0699e-06 ENSE00002406491_023 ENSE00002406491 023 3 125831595 125831764 - 30 99 41 T A 125831701 2546 64 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCATCAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112857 126112858 126112858 exon 23 0.2323232 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCATCAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 40 26 0.9761789 0.9409804 0.9585797 0.9425254 0.9414397 0.9982164 0.9785543 NA NA -0.02203747 -0.03757388 0.9419826 0.9883854 NA -0.02980567 NA FALSE NA 1 7.606 . downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 1 NA GTT T,A 8.236e-06 3:126112858 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 missense_variant 6.419961 0.98909 0.97193 0.553676 0.9937922 0 9.617837e-06 FALSE 8.14206e-06 ENSE00002406491_025 ENSE00002406491 025 3 125831595 125831764 - 30 99 41 A G 125831715 2548 50 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGCTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112871 126112872 126112872 exon 9 0.09090909 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGCTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 71 149 0.9822666 0.9279158 0.9550912 0.9425254 0.9414397 0.9982164 0.9785543 NA NA -0.01594978 -0.05063853 0.9419826 0.9883854 NA -0.03329415 NA FALSE NA 1 2.767 . downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 1 NA AAC A,G 8.236e-06 3:126112872 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 synonymous_variant 0.777209 0.96252 0.21915 0.553676 0.8345544 0 9.617837e-06 FALSE 1.22251e-05 ENSE00002406491_027 ENSE00002406491 027 3 125831595 125831764 - 30 99 41 C A 125831721 2550 44 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGTATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112877 126112878 126112878 exon 3 0.03030303 AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGTATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 922 76 0.9993734 0.9742947 0.9868341 0.9425254 0.9414397 0.9982164 0.9785543 NA NA 0.001157036 -0.004259571 0.9419826 0.9883854 NA -0.001551268 NA FALSE NA 0.95 -0.108 . downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 1 NA TCC C,A 8.236e-06 3:126112878 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 splice_region_variant 1.853707 0.96376 0.59809 0.553676 0.8385526 0 9.617837e-06 FALSE 4.07794e-06 ENSE00002406491_029 ENSE00002406491 029 3 125831595 125831764 - 30 99 41 G A 125831736 2552 29 AGGAGGAGCAGTGACCTGGTGTTCTTGTTCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112892 126112893 126112893 upstr_intron -13 -0.2926829 AGGAGGAGCAGTGACCTGGTGTTCTTGTTCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 65 176 1 0.907035 0.9535175 0.9425254 0.9414397 0.9982164 0.9785543 NA NA 0.001783606 -0.07151933 0.9419826 0.9883854 NA -0.03486786 NA FALSE NA 0 -0.123 . downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 1 NA GGA G,A 8.236e-06 3:126112893 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 intron_variant 2.305436 0.25013 0.04873 0.053691 0.9017876 0.132075 9.617837e-06 FALSE 4.09252e-06 ENSE00002406491_030 ENSE00002406491 030 3 125831595 125831764 - 30 99 41 A G 125831742 2553 23 AGGAGGAGCAGTGACCTGGTGTCCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112898 126112899 126112899 upstr_intron -19 -0.4390244 AGGAGGAGCAGTGACCTGGTGTCCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 36 28 1 1 1 0.9425254 0.9414397 0.9982164 0.9785543 NA NA 0.001783606 0.02144568 0.9419826 0.9883854 NA 0.01161464 NA FALSE NA 0.04 1.071 . downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 1 NA GAA A,G 8.236e-06 3:126112899 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 intron_variant 1.921709 0.20408 0.01343 0.053691 0.8796666 0.132075 9.617837e-06 FALSE 4.0991e-06 ENSE00002406491_031 ENSE00002406491 031 3 125831595 125831764 - 30 99 41 C G 125831752 2554 13 AGGAGGAGCAGTCACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 126112908 126112909 126112909 upstr_intron -29 -0.6829268 AGGAGGAGCAGTCACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC mutant NA NA NA NA NA 133 355 1 1 1 0.9425254 0.9414397 0.9982164 0.9785543 NA NA 0.001783606 0.02144568 0.9419826 0.9883854 NA 0.01161464 NA FALSE NA 0.001 -1.29 . downstream_gene_variant MODIFIER ALDH1L1-AS1 HGNC 40244 ENST00000512384 rs370181910 1 NA G:0.0002 G:0 TCA C,G 1.647e-05 3:126112909 ALDH1L1 HGNC Symbol protein_coding 94432 ENSG00000144908 ENSE00003477386 intron_variant 1.527207 0.17767 0.04033 0.053691 0.8455308 0.132075 9.617837e-06 FALSE 4.12072e-06 ENSE00002406491_BRK ENSE00002406491 BRK 3 125831595 125831764 - 30 99 41 A,G; T,T NA NA NA AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGATTGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGCCAAGTCCTGCCCCAGGGTCTGCGGGCGGC 126112751 126112921 NA NA NA NA NA NA AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGATTGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGCCAAGTCCTGCCCCAGGGTCTGCGGGCGGC AGGAGGAGCAGTGACCTGGTGTTCTTGTCCATTCTCTGAAGGGGATGAGTTCTGTTTTCTTCAACAAAGGAGAGAATTGCATTGCAGCAGGCCGACTCTTTGTGGAGGACTCCATTCATGATGAGTTCGTGCGGAGAGTGGTAAGTCCTGCCCCAGGGTCTGCGGGCGGC control 65 86 0 0 0 563 264 0 0.08576775 0.04288388 0.9425254 0.9414397 0.9982164 0.9785543 -0.9425254 -0.9414397 -0.9982164 -0.8927866 0.9419826 0.9883854 -0.9419826 -0.9455015 0.003518928 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ALDH1L1 NA NA NA ENSG00000144908 ENSE00003477386 NA NA NA NA NA NA NA 9.617837e-06 FALSE NA ENSE00002406515_000 ENSE00002406515 000 2 179188860 179189029 + 44 93 33 NA NA NA NA NA AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 NA NA NA NA NA NA AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG natural 245 430 0.85 0.8474177 0.8487088 5871 2046 0.9040994 0.7181804 0.8111399 0.85 0.8474177 0.9040994 0.7181804 0 0 0 0 0.8487088 0.8111399 0 0 0 FALSE FALSE NA NA NA NA NA OSBPL6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OSBPL6 NA NA NA ENSG00000079156 ENSE00003676800 NA NA NA NA NA NA NA 0.9990123 TRUE NA ENSE00002406515_001 ENSE00002406515 001 2 179188860 179189029 + 44 93 33 A G 179188884 3370 25 AAGTGAGTTGTCTAACCCTGGGCTGTGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324156 178324157 178324157 upstr_intron -20 -0.4318182 AAGTGAGTTGTCTAACCCTGGGCTGTGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 83 61 0.95 0.8 0.875 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.04590059 0.08181961 0.8487088 0.8111399 NA 0.0638601 NA FALSE NA 0 -0.734 . intron_variant MODIFIER OSBPL6 HGNC 16388 ENST00000409631 2/22 1 NA TAT A,G 1.689e-05 2:178324157 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 intron_variant -0.404958 0.1169 0.00662 0.06567 0.2323976 0.116244 0.9990123 TRUE 5.44413e-06 ENSE00002406515_002 ENSE00002406515 002 2 179188860 179189029 + 44 93 33 A G 179188937 3371 78 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTGGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324209 178324210 178324210 exon 34 0.3655914 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTGGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 182 213 0.9997737 1 0.9998868 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.09567425 0.2818196 0.8487088 0.8111399 NA 0.1887469 NA FALSE NA 0.828 0.196 rs143664561 missense_variant MODERATE OSBPL6 HGNC 16388 ENST00000409631 3/23 rs143664561 1 tolerated(0.47) benign(0) G:0.0016 G:0.0061 G:0 NA G:0 G:0 G:0 G:0.0052 G:0 TAG A,G 0.0004148 2:178324210 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 missense_variant 0.402828 0.24116 0.19065 0.615465 0.962812 0 0.9990123 TRUE 0.000312362 ENSE00002406515_005 ENSE00002406515 005 2 179188860 179189029 + 44 93 33 G A 179188943 3374 84 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCAAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324215 178324216 178324216 exon 40 0.4301075 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCAAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 78 97 0.8053862 0.9996067 0.9024965 0.85 0.8474177 0.9040994 0.7181804 NA NA -0.0987132 0.2814263 0.8487088 0.8111399 NA 0.09135655 NA FALSE NA 1 5.855 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:178324216 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 missense_variant 2.761746 0.98937 0.96095 0.615465 0.9979781 0 0.9990123 TRUE 0.000266131 ENSE00002406515_006 ENSE00002406515 006 2 179188860 179189029 + 44 93 33 G C 179188943 3375 84 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCCAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324215 178324216 178324216 exon 40 0.4301075 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCCAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 512 367 0.9751284 0.8 0.8875642 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.071029 0.08181961 0.8487088 0.8111399 NA 0.0764243 NA FALSE NA 1 5.855 NA NA NA OSBPL6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OSBPL6 NA NA NA ENSG00000079156 ENSE00003676800 missense_variant 2.532849 0.98985 0.9686 0.615465 0.9898869 0 0.9990123 TRUE 2.75308e-05 ENSE00002406515_008 ENSE00002406515 008 2 179188860 179189029 + 44 93 33 G A 179188952 3377 93 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTATAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324224 178324225 178324225 exon -45 0.5268817 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTATAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 48 268 0.04249216 0.01220241 0.02734728 0.85 0.8474177 0.9040994 0.7181804 NA NA -0.8616073 -0.705978 0.8487088 0.8111399 NA -0.7837926 NA TRUE NA 0.001 -0.929 . missense_variant MODERATE OSBPL6 HGNC 16388 ENST00000409631 3/23 1 tolerated(0.42) benign(0.001) NA TGT G,A 8.31e-05 2:178324225 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 missense_variant 0.357598 0.21378 0.03307 0.553676 0.8928069 0 0.9990123 TRUE 7.83367e-05 ENSE00002406515_009 ENSE00002406515 009 2 179188860 179189029 + 44 93 33 G T 179188956 3378 97 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAATTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324228 178324229 178324229 exon -41 0.5698925 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAATTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 27 288 0.9984658 0.9920942 0.99528 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.09436634 0.2739138 0.8487088 0.8111399 NA 0.1841401 NA FALSE NA 1 5.855 . missense_variant MODERATE OSBPL6 HGNC 16388 ENST00000409631 3/23 1 deleterious(0.03) benign(0.004) NA AGT G,T 8.318e-06 2:178324229 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 missense_variant 3.142554 0.98361 0.95627 0.553676 0.9935976 0 0.9990123 TRUE NA ENSE00002406515_015 ENSE00002406515 015 2 179188860 179189029 + 44 93 33 C G 179188973 3384 114 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAAGCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324245 178324246 178324246 exon -24 0.7526882 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAAGCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 203 335 0.9889578 0.9875038 0.9882308 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.0848584 0.2693234 0.8487088 0.8111399 NA 0.1770909 NA FALSE NA 0.991 1.728 . missense_variant MODERATE OSBPL6 HGNC 16388 ENST00000409631 3/23 rs530262761 1 tolerated(0.81) benign(0.001) G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 ACC C,G 8.357e-06 2:178324246 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 missense_variant 0.875032 0.94493 0.66406 0.615465 0.9584558 0 0.9990123 TRUE 4.82798e-06 ENSE00002406515_016 ENSE00002406515 016 2 179188860 179189029 + 44 93 33 C T 179188974 3385 115 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACTGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324246 178324247 178324247 exon -23 0.7634409 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACTGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 15 52 0.8106894 0.95 0.8803447 0.85 0.8474177 0.9040994 0.7181804 NA NA -0.09340997 0.2318196 0.8487088 0.8111399 NA 0.06920482 NA FALSE NA 0.891 1.481 NA NA NA OSBPL6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:178324247 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 missense_variant 3.140515 0.86965 0.55822 0.615465 0.9962355 0 0.9990123 TRUE 0.00471257 ENSE00002406515_018 ENSE00002406515 018 2 179188860 179189029 + 44 93 33 G A 179188975 3387 116 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCAGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324247 178324248 178324248 exon -22 0.7741935 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCAGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 232 17 0.9925588 1 0.9962794 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.08845937 0.2818196 0.8487088 0.8111399 NA 0.1851395 NA FALSE NA 0 -4.297 . synonymous_variant LOW OSBPL6 HGNC 16388 ENST00000409631 3/23 rs369815626 1 NA A:0.0002 A:0 CGG G,A 2.509e-05 2:178324248 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 synonymous_variant 1.181468 0.1379 0.00939 0.615465 0.7261034 0 0.9990123 TRUE NA ENSE00002406515_021 ENSE00002406515 021 2 179188860 179189029 + 44 93 33 C G 179188988 3390 129 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCGTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324260 178324261 178324261 exon -9 0.9139785 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCGTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 12 226 0.9382964 1 0.9691482 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.034197 0.2818196 0.8487088 0.8111399 NA 0.1580083 NA FALSE NA 0.011 0.169 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:178324261 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 missense_variant 1.267505 0.91572 0.20072 0.615465 0.9734569 0 0.9990123 TRUE 3.01787e-05 ENSE00002406515_022 ENSE00002406515 022 2 179188860 179189029 + 44 93 33 C T 179188988 3391 129 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCTTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG 178324132 178324302 178324260 178324261 178324261 exon -9 0.9139785 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCTTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 512 135 0.9564246 0.9649138 0.9606692 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.05232519 0.2467334 0.8487088 0.8111399 NA 0.1495293 NA FALSE NA 0.011 0.169 NA NA NA OSBPL6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA OSBPL6 NA NA NA ENSG00000079156 ENSE00003676800 missense_variant 1.658465 0.9126 0.15605 0.615465 0.9913555 0 0.9990123 TRUE 1.50893e-05 ENSE00002406515_023 ENSE00002406515 023 2 179188860 179189029 + 44 93 33 G A 179189011 3392 152 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATACGGTGCTTTCTCTGCTGG 178324132 178324302 178324283 178324284 178324284 downstr_intron 15 1.46875 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATACGGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 37 72 0.95 0.9135399 0.93177 0.85 0.8474177 0.9040994 0.7181804 NA NA 0.04590059 0.1953595 0.8487088 0.8111399 NA 0.1206301 NA FALSE NA 0 0.157 rs182988347 intron_variant MODIFIER OSBPL6 HGNC 16388 ENST00000409631 3/22 rs182988347 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0018 A:0 TGC G,A 0.0001199 2:178324284 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 intron_variant 1.18124 0.18325 0.05685 0.06567 0.759794 0.0743397 0.9990123 TRUE 0.000163456 ENSE00002406515_025 ENSE00002406515 025 2 179188860 179189029 + 44 93 33 G A 179189013 3394 154 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCAGTGCTTTCTCTGCTGG 178324132 178324302 178324285 178324286 178324286 downstr_intron 17 1.53125 AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCAGTGCTTTCTCTGCTGG AAGTGAGTTGTCTAACCCTGGGCTATGTTTTCATTTATTTTCAGAGTATTCACATACTGGAGAGGACTGCTTCCTCTAGCACCGAGCCCTCTGTAAGTCGGCAATTGCTAGAACCGGAGCCAGTCCCCCTCTCCAAGGTCAGTGATGAAATGCGGTGCTTTCTCTGCTGG mutant NA NA NA NA NA 55 49 0.8029258 0.8 0.8014629 0.85 0.8474177 0.9040994 0.7181804 NA NA -0.1011736 0.08181961 0.8487088 0.8111399 NA -0.009677008 NA FALSE NA 0 -0.008 . intron_variant MODIFIER OSBPL6 HGNC 16388 ENST00000409631 3/22 rs369325082 1 NA A:0.0002 A:0 CGG G,A 4.291e-05 2:178324286 OSBPL6 HGNC Symbol protein_coding 208410 ENSG00000079156 ENSE00003676800 intron_variant 0.990103 0.21718 0.09181 0.06567 0.7811717 0.0576222 0.9990123 TRUE NA ENSE00002406575_000 ENSE00002406575 000 12 114397610 114397779 - 60 39 71 NA NA NA NA NA GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA 113959804 113959974 NA NA NA NA NA NA GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA natural 19 25 0.996107 0.9791235 0.9876152 1893 881 0.9956858 0.990809 0.9932474 0.996107 0.9791235 0.9956858 0.990809 0 0 0 0 0.9876152 0.9932474 0 0 0 FALSE FALSE NA NA NA NA NA RBM19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBM19 NA NA NA ENSG00000122965 ENSE00003569025 NA NA NA NA NA NA NA 1.622074e-05 FALSE NA ENSE00002406575_011 ENSE00002406575 011 12 114397610 114397779 - 60 39 71 C T 114397705 3378 75 GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATAAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA 113959804 113959974 113959899 113959900 113959900 exon 4 0.1025641 GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATAAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA mutant NA NA NA NA NA 21 20 1 0.95 0.975 0.996107 0.9791235 0.9956858 0.990809 NA NA 0.004314193 -0.04080895 0.9876152 0.9932474 NA -0.01824738 NA FALSE NA 0 0.241 . missense_variant MODERATE RBM19 HGNC 29098 ENST00000545145 4/25 rs267603319&COSM36748 1 tolerated(1) benign(0) NA TCA C,T 8.236e-06 12:113959900 RBM19 HGNC Symbol protein_coding 149633 ENSG00000122965 ENSE00003569025 missense_variant -0.51071 0.23984 0.02649 0.706548 0.09025516 0 1.622074e-05 FALSE 4.06114e-06 ENSE00002406575_020 ENSE00002406575 020 12 114397610 114397779 - 60 39 71 G C 114397755 3387 25 GGTCAGTGCAGTTCTGTTTCCCAGGTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA 113959804 113959974 113959949 113959950 113959950 upstr_intron -47 -0.6478873 GGTCAGTGCAGTTCTGTTTCCCAGGTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA mutant NA NA NA NA NA 55 65 1 1 1 0.996107 0.9791235 0.9956858 0.990809 NA NA 0.004314193 0.009191046 0.9876152 0.9932474 NA 0.00675262 NA FALSE NA 0 -2.152 . intron_variant MODIFIER RBM19 HGNC 29098 ENST00000545145 3/24 1 NA AGC G,C 3.295e-05 12:113959950 RBM19 HGNC Symbol protein_coding 149633 ENSG00000122965 ENSE00003569025 intron_variant -0.430615 0.1251 0.03084 0.099367 0.6095597 0.0901072 1.622074e-05 FALSE 2.84271e-05 ENSE00002406575_BRK ENSE00002406575 BRK 12 114397610 114397779 - 60 39 71 A,G; T,T NA NA NA GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCTTGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGCCGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA 113959804 113959974 NA NA NA NA NA NA GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCTTGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGCCGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA GGTCAGTGCAGTTCTGTTTCCCAGCTCTCTTCATCTGTGTGACCCTCACTCTCTGTGCCTTCTGTTTTCAGGATGAGAAGAAGAAAAAGGTGGCAGGTCAACTGGAGAAGGTGAGTCTGTCCTGTTGCCCAAGGAGGAGAGAGGGTGGGCAGCAGGTGGAAGAGGGTGGA control 254 44 0 0 0 NA NA NA NA NA 0.996107 0.9791235 0.9956858 0.990809 -0.996107 -0.9791235 NA NA 0.9876152 0.9932474 -0.9876152 NA NA NA TRUE NA NA NA NA NA RBM19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RBM19 NA NA NA ENSG00000122965 ENSE00003569025 NA NA NA NA NA NA NA 1.622074e-05 FALSE NA ENSE00002406591_000 ENSE00002406591 000 5 147015737 147015906 - 48 63 59 NA NA NA NA NA TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 NA NA NA NA NA NA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA natural 30 97 0.9805297 0.9331253 0.9568275 1598 1175 0.9885048 0.9125446 0.9505247 0.9805297 0.9331253 0.9885048 0.9125446 0 0 0 0 0.9568275 0.9505247 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003607575 NA NA NA NA NA NA NA NA NA NA ENSE00002406591_004 ENSE00002406591 004 5 147015737 147015906 - 48 63 59 G C 147015761 1579 146 TCTCATGATTTTCTCCTCTGCCCCCCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636197 147636198 147636198 downstr_intron 24 1.510638 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGGGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 315 326 1 0.9964191 0.9982096 0.9805297 0.9331253 0.9885048 0.9125446 NA NA 0.01149519 0.0838745 0.9568275 0.9505247 NA 0.04768485 NA FALSE NA 1 1.428 NA NA NA JAKMIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA JAKMIP2 NA NA NA ENSG00000176049 ENSE00003607575 intron_variant 0.366668 0.91225 0.59277 0.156188 0.4745853 0.375198 0.9999365 TRUE 4.07817e-06 ENSE00002407021_000 ENSE00002407021 000 7 137341170 137341339 - 42 75 53 NA NA NA NA NA TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 NA NA NA NA NA NA TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT natural NA NA NA NA NA 2179 1575 0.9938878 0.9428685 0.9683781 NA NA 0.9938878 0.9428685 NA NA 0 0 NA 0.9683781 NA 0 NA FALSE NA NA NA NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00003511205 NA NA NA NA NA NA NA 0.7380162 FALSE NA ENSE00002407021_001 ENSE00002407021 001 7 137341170 137341339 - 42 75 53 T C 137341180 2762 160 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTGCATTGCAAGT 137656423 137656593 137656433 137656434 137656434 downstr_intron 32 1.780488 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTGCATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 77 182 1 0.99913 0.999565 NA NA 0.9938878 0.9428685 NA NA 0.006112212 0.05626157 NA 0.9683781 NA 0.03118689 NA FALSE NA 0 -0.284 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 4/33 1 NA GTA T,C 0.0002471 7:137656434 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 0.142746 0.11908 0.07138 0.158681 0.4969894 0.0939515 0.7380162 FALSE 0.000341972 ENSE00002407021_005 ENSE00002407021 005 7 137341170 137341339 - 42 75 53 C T 137341201 2766 139 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCACCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656454 137656455 137656455 downstr_intron 11 1.268293 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCACCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 751 373 0.9948225 1 0.9974113 NA NA 0.9938878 0.9428685 NA NA 0.0009347447 0.05713154 NA 0.9683781 NA 0.02903314 NA FALSE NA 0.687 0.763 rs192921393 intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 4/33 rs192921393 1 T:0.0010 T:0 T:0.0029 NA T:0 T:0 T:0.0031 T:0.0002 T:0.0003 GCG C,T 0.0001977 7:137656455 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 1.502631 0.81709 0.55328 0.158681 0.9604039 0.524858 0.7380162 FALSE 0.000219337 ENSE00002407021_006 ENSE00002407021 006 7 137341170 137341339 - 42 75 53 C T 137341203 2767 137 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCACGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656456 137656457 137656457 downstr_intron 9 1.219512 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCACGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 725 132 0.9991535 0.970108 0.9846307 NA NA 0.9938878 0.9428685 NA NA 0.005265672 0.02723949 NA 0.9683781 NA 0.01625258 NA FALSE NA 0 -0.521 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 4/33 1 NA GCG C,T 8.236e-06 7:137656457 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 1.335474 0.1845 0.12991 0.158681 0.9480763 0.333657 0.7380162 FALSE 4.06167e-06 ENSE00002407021_007 ENSE00002407021 007 7 137341170 137341339 - 42 75 53 T C 137341213 2768 127 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAGGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656466 137656467 137656467 exon -2 0.9866667 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAGGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 1170 681 0.9995518 0.9997677 0.9996597 NA NA 0.9938878 0.9428685 NA NA 0.005663977 0.05689923 NA 0.9683781 NA 0.0312816 NA FALSE NA 1 6.141 rs140009623 missense_variant&splice_region_variant MODERATE DGKI HGNC 2855 ENST00000288490 4/34 rs140009623 1 tolerated(0.16) benign(0.342) C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0002 CTT T,C 5.765e-05 7:137656467 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 missense_variant 2.675038 0.93465 0.93684 0.693307 0.9961218 0 0.7380162 FALSE 4.46719e-05 ENSE00002407021_008 ENSE00002407021 008 7 137341170 137341339 - 42 75 53 T G 137341214 2769 126 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAACAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656467 137656468 137656468 exon -3 0.9733333 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAACAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 1009 973 0.9796977 0.9989765 0.9893371 NA NA 0.9938878 0.9428685 NA NA -0.01419004 0.05610807 NA 0.9683781 NA 0.02095901 NA FALSE NA 1 4.417 . missense_variant&splice_region_variant MODERATE DGKI HGNC 2855 ENST00000288490 4/34 1 tolerated(0.1) benign(0.047) NA TTT T,G 8.236e-06 7:137656468 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 missense_variant 2.817338 0.93594 0.91786 0.693307 0.9817465 0 0.7380162 FALSE 4.06081e-06 ENSE00002407021_009 ENSE00002407021 009 7 137341170 137341339 - 42 75 53 T G 137341218 2770 122 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTCGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656471 137656472 137656472 exon -7 0.92 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTCGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 634 863 0.9945503 0.9951305 0.9948404 NA NA 0.9938878 0.9428685 NA NA 0.000662543 0.05226204 NA 0.9683781 NA 0.02646229 NA FALSE NA 1 0.761 rs144790772 synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 4/34 rs144790772 1 NA CTA T,G 3.295e-05 7:137656472 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 synonymous_variant 1.160905 0.85598 0.74343 0.693307 0.6898257 0 0.7380162 FALSE 2.03037e-05 ENSE00002407021_010 ENSE00002407021 010 7 137341170 137341339 - 42 75 53 T C 137341225 2771 115 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGGGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656478 137656479 137656479 exon -14 0.8266667 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGGGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 93 427 1 1 1 NA NA 0.9938878 0.9428685 NA NA 0.006112212 0.05713154 NA 0.9683781 NA 0.03162187 NA FALSE NA 1 6.141 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 4/34 1 tolerated(0.12) possibly_damaging(0.826) NA CTC T,C 8.236e-06 7:137656479 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 missense_variant 4.99175 0.92274 0.91602 0.693307 0.9950854 0 0.7380162 FALSE 4.06072e-06 ENSE00002407021_011 ENSE00002407021 011 7 137341170 137341339 - 42 75 53 C T 137341235 2772 105 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCACCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656488 137656489 137656489 exon -24 0.6933333 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCACCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 152 671 1 0.9938177 0.9969088 NA NA 0.9938878 0.9428685 NA NA 0.006112212 0.05094919 NA 0.9683781 NA 0.0285307 NA FALSE NA 1 4.283 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:137656489 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 missense_variant 5.058334 0.93253 0.89266 0.648878 0.9904472 0 0.7380162 FALSE 2.03034e-05 ENSE00002407021_012 ENSE00002407021 012 7 137341170 137341339 - 42 75 53 C A 137341235 2773 105 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCTCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656488 137656489 137656489 exon -24 0.6933333 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCTCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 230 1197 1 0.9979678 0.9989839 NA NA 0.9938878 0.9428685 NA NA 0.006112212 0.05509932 NA 0.9683781 NA 0.03060577 NA FALSE NA 1 4.283 NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00003511205 missense_variant 4.405956 0.93444 0.90704 0.648878 0.9787107 0 0.7380162 FALSE NA ENSE00002407021_013 ENSE00002407021 013 7 137341170 137341339 - 42 75 53 G A 137341236 2774 104 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACTGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656489 137656490 137656490 exon -25 0.68 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACTGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 215 27 0.8236118 1 0.9118059 NA NA 0.9938878 0.9428685 NA NA -0.170276 0.05713154 NA 0.9683781 NA -0.05657221 NA FALSE NA 0 -2.628 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 4/34 1 NA CGG G,A 8.236e-06 7:137656490 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 synonymous_variant 1.553027 0.69028 0.10965 0.648878 0.8955552 0 0.7380162 FALSE 1.21819e-05 ENSE00002407021_015 ENSE00002407021 015 7 137341170 137341339 - 42 75 53 C T 137341244 2776 96 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCATCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656497 137656498 137656498 exon -33 0.5733333 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCATCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 174 542 1 1 1 NA NA 0.9938878 0.9428685 NA NA 0.006112212 0.05713154 NA 0.9683781 NA 0.03162187 NA FALSE NA 1 5.975 rs34367207 missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 4/34 rs34367207 1 deleterious(0.04) probably_damaging(0.986) T:0.0122 T:0.0454 T:0.0014 NA T:0 T:0 T:0 T:0.0443 T:0 ACG C,T 0.004168 7:137656498 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 missense_variant 5.806427 0.93274 0.92011 0.648878 0.9987266 0 0.7380162 FALSE 0.00315919 ENSE00002407021_016 ENSE00002407021 016 7 137341170 137341339 - 42 75 53 G A 137341245 2777 95 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTTGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656498 137656499 137656499 exon -34 0.56 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTTGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 17 1643 0.9717943 0.9974824 0.9846383 NA NA 0.9938878 0.9428685 NA NA -0.0220935 0.05461394 NA 0.9683781 NA 0.01626022 NA FALSE NA 0.024 -1.316 rs139929349 synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 4/34 rs139929349 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGA G,A 3.295e-05 7:137656499 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 synonymous_variant 1.73139 0.82819 0.15207 0.648878 0.9120746 0 0.7380162 FALSE 2.03031e-05 ENSE00002407021_017 ENSE00002407021 017 7 137341170 137341339 - 42 75 53 G A 137341248 2778 92 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATTGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656501 137656502 137656502 exon -37 0.52 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATTGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 705 232 0.9994148 0.9971617 0.9982882 NA NA 0.9938878 0.9428685 NA NA 0.00552701 0.05429322 NA 0.9683781 NA 0.02991012 NA FALSE NA 0.994 -0.235 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 4/34 1 NA CGA G,A 8.236e-06 7:137656502 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 synonymous_variant 2.246867 0.58805 0.35494 0.648878 0.9102859 0 0.7380162 FALSE 4.06068e-06 ENSE00002407021_018 ENSE00002407021 018 7 137341170 137341339 - 42 75 53 T C 137341260 2779 80 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCGGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656513 137656514 137656514 exon 27 0.36 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCGGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 851 153 0.9659514 0.9989649 0.9824581 NA NA 0.9938878 0.9428685 NA NA -0.02793643 0.05609645 NA 0.9683781 NA 0.01408001 NA FALSE NA 0.001 -3.24 . synonymous_variant LOW DGKI HGNC 2855 ENST00000288490 4/34 rs539000971 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTG T,C 2.471e-05 7:137656514 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 synonymous_variant 0.9407 0.53075 0.08575 0.648878 0.6545084 0 0.7380162 FALSE 1.2182e-05 ENSE00002407021_019 ENSE00002407021 019 7 137341170 137341339 - 42 75 53 G A 137341277 2780 63 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTTTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656530 137656531 137656531 exon 10 0.1333333 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTTTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 2866 708 0.9635115 0.9941472 0.9788293 NA NA 0.9938878 0.9428685 NA NA -0.0303763 0.05127874 NA 0.9683781 NA 0.01045122 NA FALSE NA 1 3.772 . missense_variant MODERATE DGKI HGNC 2855 ENST00000288490 4/34 1 tolerated(0.41) possibly_damaging(0.601) NA AGA G,A 8.236e-06 7:137656531 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 missense_variant 5.042113 0.93254 0.88067 0.648878 0.9982183 0 0.7380162 FALSE 4.06081e-06 ENSE00002407021_022 ENSE00002407021 022 7 137341170 137341339 - 42 75 53 C T 137341297 2783 43 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTAAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656550 137656551 137656551 upstr_intron -11 -0.1886792 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTAAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 147 797 1 0.9941814 0.9970907 NA NA 0.9938878 0.9428685 NA NA 0.006112212 0.05131296 NA 0.9683781 NA 0.02871259 NA FALSE NA 0.623 0.11 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 3/33 1 NA TCA C,T 1.647e-05 7:137656551 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 1.699719 0.43518 0.21255 0.119485 0.8284685 0.576979 0.7380162 FALSE 1.62458e-05 ENSE00002407021_023 ENSE00002407021 023 7 137341170 137341339 - 42 75 53 A T 137341299 2784 41 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAAATGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656552 137656553 137656553 upstr_intron -13 -0.2264151 TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAAATGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 814 203 0.9975993 0.9758821 0.9867407 NA NA 0.9938878 0.9428685 NA NA 0.003711516 0.0330136 NA 0.9683781 NA 0.01836256 NA FALSE NA 1 1.63 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 3/33 1 NA AAT A,T 4.118e-05 7:137656553 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 1.84403 0.83251 0.7876 0.119485 0.8470684 0.876383 0.7380162 FALSE 7.31024e-05 ENSE00002407021_024 ENSE00002407021 024 7 137341170 137341339 - 42 75 53 G T 137341316 2785 24 TTCAGAACAGACTGTTAACATTTATTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656569 137656570 137656570 upstr_intron -30 -0.5471698 TTCAGAACAGACTGTTAACATTTATTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 71 180 0.8 1 0.9 NA NA 0.9938878 0.9428685 NA NA -0.1938878 0.05713154 NA 0.9683781 NA -0.06837813 NA FALSE NA 0.889 0.496 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 3/33 1 NA AGA G,T 8.236e-06 7:137656570 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 1.591332 0.20839 0.46583 0.119485 0.8824296 0.353836 0.7380162 FALSE 4.06392e-06 ENSE00002407021_025 ENSE00002407021 025 7 137341170 137341339 - 42 75 53 T C 137341320 2786 20 TTCAGAACAGACTGTTAACGTTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656573 137656574 137656574 upstr_intron -34 -0.6226415 TTCAGAACAGACTGTTAACGTTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 355 532 1 0.9997026 0.9998513 NA NA 0.9938878 0.9428685 NA NA 0.006112212 0.05683414 NA 0.9683781 NA 0.03147318 NA FALSE NA 0 -1.419 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:137656574 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 1.62306 0.14188 0.08306 0.119485 0.8849029 0.353836 0.7380162 FALSE 0.000471495 ENSE00002407021_026 ENSE00002407021 026 7 137341170 137341339 - 42 75 53 T G 137341320 2787 20 TTCAGAACAGACTGTTAACCTTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656573 137656574 137656574 upstr_intron -34 -0.6226415 TTCAGAACAGACTGTTAACCTTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 10 646 1 1 1 NA NA 0.9938878 0.9428685 NA NA 0.006112212 0.05713154 NA 0.9683781 NA 0.03162187 NA FALSE NA 0 -1.419 NA NA NA DGKI NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKI NA NA NA ENSG00000157680 ENSE00003511205 intron_variant 1.829355 0.15684 0.18712 0.119485 0.8736931 0.353836 0.7380162 FALSE 4.06461e-06 ENSE00002407021_027 ENSE00002407021 027 7 137341170 137341339 - 42 75 53 T C 137341322 2788 18 TTCAGAACAGACTGTTAGCATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656575 137656576 137656576 upstr_intron -36 -0.6603774 TTCAGAACAGACTGTTAGCATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 371 148 0.9950058 1 0.9975029 NA NA 0.9938878 0.9428685 NA NA 0.001117974 0.05713154 NA 0.9683781 NA 0.02912475 NA FALSE NA 0.822 1.576 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 3/33 1 NA GTT T,C 2.471e-05 7:137656576 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 1.713295 0.51311 0.63207 0.119485 0.9398078 0.843598 0.7380162 FALSE 1.62615e-05 ENSE00002407021_028 ENSE00002407021 028 7 137341170 137341339 - 42 75 53 T C 137341323 2789 17 TTCAGAACAGACTGTTGACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT 137656423 137656593 137656576 137656577 137656577 upstr_intron -37 -0.6792453 TTCAGAACAGACTGTTGACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT TTCAGAACAGACTGTTAACATTTCTTTTTTGTCTTTTGAATTGAATATTGTAGAAATCAGCTCTCAGGAGGAAGTGTGCAGTCTGTAAAATCGTCGTCCACACCGCCTGCATTGAGCAGCTAGAAAAGGTAAGAGCGCGCCCCCTGCTGCAGTTTTGTTACATTGCAAGT mutant NA NA NA NA NA 291 365 1 0.8655333 0.9327666 NA NA 0.9938878 0.9428685 NA NA 0.006112212 -0.07733519 NA 0.9683781 NA -0.03561149 NA FALSE NA 0.971 1.491 . intron_variant MODIFIER DGKI HGNC 2855 ENST00000288490 3/33 1 NA TTA T,C 2.471e-05 7:137656577 DGKI HGNC Symbol protein_coding 466055 ENSG00000157680 ENSE00003511205 intron_variant 1.68736 0.45189 0.57717 0.119485 0.9457454 0.531575 0.7380162 FALSE 2.03287e-05 ENSE00002407617_000 ENSE00002407617 000 5 179548025 179548194 - 35 90 45 NA NA NA NA NA ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 NA NA NA NA NA NA ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT natural 32 17 0.9981526 0.9945203 0.9963364 4848 4575 0.9782257 0.8841257 0.9311757 0.9981526 0.9945203 0.9782257 0.8841257 0 0 0 0 0.9963364 0.9311757 0 0 0 FALSE FALSE NA NA NA NA NA RASGEF1C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASGEF1C NA NA NA ENSG00000146090 ENSE00003565248 NA NA NA NA NA NA NA 0.0033181 FALSE NA ENSE00002407617_001 ENSE00002407617 001 5 179548025 179548194 - 35 90 45 G A 179548035 2623 160 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCATCACCTGGCAT 180121024 180121194 180121034 180121035 180121035 downstr_intron 25 1.735294 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCATCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 286 234 1 0.9914083 0.9957041 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.0217743 0.1072826 0.9963364 0.9311757 NA 0.06452846 NA FALSE NA 0 -0.212 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/5 rs200482767 1 NA A:0.0005 A:0.0035 GGT G,A 0.001153 5:180121035 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant 0.177018 0.06436 2e-04 0.053691 0.7549638 0.139382 0.0033181 FALSE 0.00114693 ENSE00002407617_002 ENSE00002407617 002 5 179548025 179548194 - 35 90 45 C G 179548042 2624 153 ATGCCAGGTGGTGCCCAGCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121041 180121042 180121042 downstr_intron 18 1.529412 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGCTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 474 55 1 0.9856707 0.9928354 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.0217743 0.1015451 0.9963364 0.9311757 NA 0.06165968 NA FALSE NA 0 -0.332 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/5 1 NA ACC C,G 0.0002141 5:180121042 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant 1.070014 0.29364 0.06312 0.053691 0.7216069 0.0956125 0.0033181 FALSE 0.000203242 ENSE00002407617_004 ENSE00002407617 004 5 179548025 179548194 - 35 90 45 G A 179548050 2626 145 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGATAGCCAGGGTGGGCACCACCTGGCAT 180121024 180121194 180121049 180121050 180121050 downstr_intron 10 1.294118 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGATAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 753 234 0.992555 1 0.9962775 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.01432927 0.1158743 0.9963364 0.9311757 NA 0.06510179 NA FALSE NA 0.01 0.478 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/5 1 NA TGT G,A 8.236e-06 5:180121050 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant 0.970122 0.20811 0.01225 0.053691 0.7037566 0.170011 0.0033181 FALSE 4.06326e-06 ENSE00002407617_005 ENSE00002407617 005 5 179548025 179548194 - 35 90 45 G A 179548063 2627 132 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGTATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT 180121024 180121194 180121062 180121063 180121063 exon -4 0.9666667 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGTATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 503 377 0.9790479 0.9877346 0.9833913 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.0008222384 0.103609 0.9963364 0.9311757 NA 0.0522156 NA FALSE NA 1 4.852 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/6 1 NA TGC G,A 8.236e-06 5:180121063 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 synonymous_variant 0.533907 0.98382 0.9422 0.554377 0.672714 0 0.0033181 FALSE 4.0623e-06 ENSE00002407617_006 ENSE00002407617 006 5 179548025 179548194 - 35 90 45 G C 179548066 2628 129 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCACATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121065 180121066 180121066 exon -7 0.9333333 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATGTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 842 412 0.8099946 0.9999076 0.9049511 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.1682311 0.1157819 0.9963364 0.9311757 NA -0.02622461 NA FALSE NA 1 1.944 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/6 1 NA AGA G,C 0.00014 5:180121066 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 missense_variant 4.862103 0.97779 0.92958 0.554377 0.9951134 0 0.0033181 FALSE 0.000121857 ENSE00002407617_007 ENSE00002407617 007 5 179548025 179548194 - 35 90 45 T G 179548075 2629 120 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCCACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT 180121024 180121194 180121074 180121075 180121075 exon -16 0.8333333 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCCACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 32 83 0.9710813 1 0.9855406 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.007144439 0.1158743 0.9963364 0.9311757 NA 0.05436494 NA FALSE NA 0 -7.057 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/6 1 NA TTG T,G 8.236e-06 5:180121075 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 synonymous_variant -0.028206 0.07347 0.00623 0.554377 0.3823278 0 0.0033181 FALSE 4.06141e-06 ENSE00002407617_008 ENSE00002407617 008 5 179548025 179548194 - 35 90 45 G T 179548083 2630 112 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCATGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121082 180121083 180121083 exon -24 0.7444444 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACATGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 119 291 1 0.9498547 0.9749273 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.0217743 0.06572898 0.9963364 0.9311757 NA 0.04375164 NA FALSE NA 1 4.019 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/6 1 NA AGG G,T 8.236e-06 5:180121083 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 missense_variant 4.656218 0.98343 0.94866 0.554377 0.9942187 0 0.0033181 FALSE 4.06118e-06 ENSE00002407617_009 ENSE00002407617 009 5 179548025 179548194 - 35 90 45 G C 179548096 2631 99 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTCTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121095 180121096 180121096 exon -37 0.6 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAAGAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 608 465 0.9975451 0.9926363 0.9950907 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.01931944 0.1085106 0.9963364 0.9311757 NA 0.063915 NA FALSE NA 1 2.45 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/6 1 NA TGT G,C 8.236e-06 5:180121096 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 missense_variant 5.108559 0.97836 0.92481 0.554377 0.9970273 0 0.0033181 FALSE 4.06101e-06 ENSE00002407617_010 ENSE00002407617 010 5 179548025 179548194 - 35 90 45 A G 179548104 2632 91 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCGTTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121103 180121104 180121104 exon -45 0.5111111 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAACGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 285 268 1 0.9953225 0.9976613 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.0217743 0.1111968 0.9963364 0.9311757 NA 0.06648557 NA FALSE NA 1 6.555 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/6 1 NA CAT A,G 8.236e-06 5:180121104 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 missense_variant 5.269682 0.98753 0.9613 0.554377 0.9950493 0 0.0033181 FALSE 4.06075e-06 ENSE00002407617_011 ENSE00002407617 011 5 179548025 179548194 - 35 90 45 G A 179548126 2633 69 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGTAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT 180121024 180121194 180121125 180121126 180121126 exon 24 0.2666667 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGTAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 513 225 0.9989524 0.9949391 0.9969458 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.02072674 0.1108134 0.9963364 0.9311757 NA 0.06577008 NA FALSE NA 0.998 1.123 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/6 rs201488386&COSM3854301&COSM3854300 1 NA TGC G,A 8.236e-06 5:180121126 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 synonymous_variant -0.088261 0.94205 0.65511 0.486886 0.3508122 0 0.0033181 FALSE 8.12156e-06 ENSE00002407617_012 ENSE00002407617 012 5 179548025 179548194 - 35 90 45 C T 179548132 2634 63 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTTTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121131 180121132 180121132 exon 18 0.2 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAAACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 640 114 0.9512867 0.9472679 0.9492773 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.02693902 0.06314217 0.9963364 0.9311757 NA 0.01810158 NA FALSE NA 1 0.778 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 4/6 1 NA TCT C,T 8.236e-06 5:180121132 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 synonymous_variant 0.97692 0.95544 0.63321 0.486886 0.2978638 0 0.0033181 FALSE 4.06078e-06 ENSE00002407617_013 ENSE00002407617 013 5 179548025 179548194 - 35 90 45 T C 179548140 2635 55 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCGGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT 180121024 180121194 180121139 180121140 180121140 exon 10 0.1111111 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCGGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 48 211 0.9583118 0.9685246 0.9634182 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.01991391 0.08439894 0.9963364 0.9311757 NA 0.03224252 NA FALSE NA 1 1.625 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:180121140 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 missense_variant -0.19836 0.95616 0.81936 0.486886 0.2501962 0 0.0033181 FALSE 2.43653e-05 ENSE00002407617_014 ENSE00002407617 014 5 179548025 179548194 - 35 90 45 T G 179548140 2636 55 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCCGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT 180121024 180121194 180121139 180121140 180121140 exon 10 0.1111111 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCCGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 1904 1175 0.9954267 0.9989196 0.9971731 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.01720097 0.1147939 0.9963364 0.9311757 NA 0.06599743 NA FALSE NA 1 1.625 NA NA NA RASGEF1C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASGEF1C NA NA NA ENSG00000146090 ENSE00003565248 missense_variant 0.467566 0.96124 0.94258 0.486886 0.8614815 0 0.0033181 FALSE 4.06088e-06 ENSE00002407617_015 ENSE00002407617 015 5 179548025 179548194 - 35 90 45 A C 179548155 2637 40 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGACCAAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121154 180121155 180121155 upstr_intron -6 -0.1111111 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGGTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 308 443 0.3652665 0.4214774 0.393372 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.6129592 -0.4626483 0.9963364 0.9311757 NA -0.5378037 NA TRUE NA 0.015 0.259 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RASGEF1C HGNC 27400 ENST00000519883 3/5 1 NA AAC A,C 8.236e-06 5:180121155 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 splice_region_variant -0.321783 0.29785 0.13596 0.077785 0.6441699 0.139286 0.0033181 FALSE NA ENSE00002407617_016 ENSE00002407617 016 5 179548025 179548194 - 35 90 45 A C 179548157 2638 38 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACCAACACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121156 180121157 180121157 upstr_intron -8 -0.1555556 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTGGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 41 16 0.9693249 0.9582797 0.9638023 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.008900828 0.07415401 0.9963364 0.9311757 NA 0.03262659 NA FALSE NA 0.027 1.043 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RASGEF1C HGNC 27400 ENST00000519883 3/5 1 NA CAA A,C 1.647e-05 5:180121157 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 splice_region_variant -0.734248 0.19189 0.10374 0.077785 0.3699879 0.139286 0.0033181 FALSE 2.03108e-05 ENSE00002407617_017 ENSE00002407617 017 5 179548025 179548194 - 35 90 45 C T 179548160 2639 35 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAATACAGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121159 180121160 180121160 upstr_intron -11 -0.2222222 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTATTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 119 63 1 1 1 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.0217743 0.1158743 0.9963364 0.9311757 NA 0.06882431 NA FALSE NA 0.018 -1.026 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 3/5 1 NA ACA C,T 8.236e-06 5:180121160 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant -0.238168 0.19617 0.00231 0.077785 0.2850508 0.139286 0.0033181 FALSE 4.06177e-06 ENSE00002407617_018 ENSE00002407617 018 5 179548025 179548194 - 35 90 45 A G 179548163 2640 32 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACGGCACACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121162 180121163 180121163 upstr_intron -14 -0.2888889 ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCCGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 126 1586 0.8961672 0.9228513 0.9095092 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.08205854 0.03872559 0.9963364 0.9311757 NA -0.02166647 NA FALSE NA 0.171 1.766 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 3/5 1 NA CAG A,G 8.236e-06 5:180121163 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant -0.369398 0.27834 0.00682 0.077785 0.3161741 0.114816 0.0033181 FALSE NA ENSE00002407617_019 ENSE00002407617 019 5 179548025 179548194 - 35 90 45 A G 179548166 2641 29 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCGCACGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121165 180121166 180121166 upstr_intron -17 -0.3555556 ACAAAAAGGCTCAGAACGTGGTCCCGTGCGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 799 127 0.9758823 0.9201421 0.9480122 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.002343408 0.03601644 0.9963364 0.9311757 NA 0.01683652 NA FALSE NA 0.041 1.92 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 3/5 1 NA CAC A,G 2.471e-05 5:180121166 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant 0.014631 0.28713 0.05407 0.077785 0.4586824 0.114816 0.0033181 FALSE 2.43811e-05 ENSE00002407617_020 ENSE00002407617 020 5 179548025 179548194 - 35 90 45 C T 179548169 2642 26 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACATGGGACCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121168 180121169 180121169 upstr_intron -20 -0.4222222 ACAAAAAGGCTCAGAACGTGGTCCCATGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 281 297 1 0.9973818 0.9986909 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.0217743 0.1132561 0.9963364 0.9311757 NA 0.0675152 NA FALSE NA 0.004 1.553 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 3/5 rs549862872 1 NA ACG C,T 0.0001318 5:180121169 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant -0.242381 0.26262 0.00581 0.077785 0.5102122 0.114816 0.0033181 FALSE 0.000174792 ENSE00002407617_021 ENSE00002407617 021 5 179548025 179548194 - 35 90 45 C T 179548174 2643 21 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGATCACGTTCTGAGCCTTTTTGT 180121024 180121194 180121173 180121174 180121174 upstr_intron -25 -0.5333333 ACAAAAAGGCTCAGAACGTGATCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 290 297 1 0.9953853 0.9976927 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.0217743 0.1112596 0.9963364 0.9311757 NA 0.06651696 NA FALSE NA 0 0.175 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 3/5 rs543256501 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACC C,T 6.589e-05 5:180121174 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant 0.168523 0.22403 0.01911 0.077785 0.7561476 0.113858 0.0033181 FALSE 6.91462e-05 ENSE00002407617_022 ENSE00002407617 022 5 179548025 179548194 - 35 90 45 C T 179548177 2644 18 ATGCCAGGTGGTGCCCACCCTGGCTGTCTACTCACCATGCAGATCTCAGTTGCCACCAGGTAGCACAGCCTGTTGAACCATTTCACATAAGCCTCCAGGTTGCTGGTCTTGTCACTGAAGCAGGGCTAGAACAAACACAGCACACGGGACCATGTTCTGAGCCTTTTTGT 180121024 180121194 180121176 180121177 180121177 upstr_intron -28 -0.6 ACAAAAAGGCTCAGAACATGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 674 205 0.9987107 0.9669719 0.9828413 0.9981526 0.9945203 0.9782257 0.8841257 NA NA 0.02048497 0.08284622 0.9963364 0.9311757 NA 0.0516656 NA FALSE NA 0 -0.845 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 3/5 rs373277026 1 NA T:0.0007 T:0 ACG C,T 5.765e-05 5:180121177 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant -0.003036 0.1168 0.00646 0.077785 0.6800856 0.113858 0.0033181 FALSE 4.07232e-05 ENSE00002407617_023 ENSE00002407617 023 5 179548025 179548194 - 35 90 45 G A 179548178 2645 17 ACAAAAAGGCTCAGAATGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT 180121024 180121194 180121177 180121178 180121178 upstr_intron -29 -0.6222222 ACAAAAAGGCTCAGAATGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT mutant NA NA NA NA NA 282 258 0.9775186 0.9844786 0.9809986 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.0007071058 0.1003529 0.9963364 0.9311757 NA 0.04982288 NA FALSE NA 0 -0.293 . intron_variant&non_coding_transcript_variant MODIFIER RASGEF1C HGNC 27400 ENST00000519883 3/5 rs376207672 1 NA A:0 A:0.0006 CGT A,A 0.0002553 5:180121178 RASGEF1C HGNC Symbol protein_coding 108362 ENSG00000146090 ENSE00003565248 intron_variant -0.185766 0.10502 0.00555 0.077785 0.7040294 0.113858 0.0033181 FALSE 0.000276945 ENSE00002407617_BRK ENSE00002407617 BRK 5 179548025 179548194 - 35 90 45 A,G; T,T NA NA NA ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTTTCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGCCGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT 180121024 180121194 NA NA NA NA NA NA ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTTTCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGCCGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT ACAAAAAGGCTCAGAACGTGGTCCCGTGTGCTGTGTTTGTTCTAGCCCTGCTTCAGTGACAAGACCAGCAACCTGGAGGCTTATGTGAAATGGTTCAACAGGCTGTGCTACCTGGTGGCAACTGAGATCTGCATGGTGAGTAGACAGCCAGGGTGGGCACCACCTGGCAT control NA NA NA NA NA 519 39 0.08661155 0 0.04330578 0.9981526 0.9945203 0.9782257 0.8841257 NA NA -0.8916141 -0.8841257 0.9963364 0.9311757 NA -0.8878699 NA TRUE NA NA NA NA NA NA RASGEF1C NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RASGEF1C NA NA NA ENSG00000146090 ENSE00003565248 NA NA NA NA NA NA NA 0.0033181 FALSE NA ENSE00002407712_000 ENSE00002407712 000 18 77104220 77104389 + 45 90 35 NA NA NA NA NA TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 NA NA NA NA NA NA TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT natural 44 42 0.981031 0.9903931 0.9857121 3121 5683 0.838943 0.9965733 0.9177582 0.981031 0.9903931 0.838943 0.9965733 0 0 0 0 0.9857121 0.9177582 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP9B NA NA NA ENSG00000166377 ENSE00003582657 NA NA NA NA NA NA NA 7.024147e-12 FALSE NA ENSE00002407712_001 ENSE00002407712 001 18 77104220 77104389 + 45 90 35 A C 77104242 913 23 TTAGACAACATTTTAATTTGGGCTTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344241 79344242 79344242 upstr_intron -23 -0.4888889 TTAGACAACATTTTAATTTGGGCTTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 658 72 0.9966373 1 0.9983187 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.1576943 0.00342667 0.9857121 0.9177582 NA 0.08056048 NA FALSE NA 0.003 0.068 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:79344242 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 non_coding_transcript_exon_variant -0.108312 0.19675 0.03986 0.156188 0.7103701 0.114106 7.024147e-12 FALSE 0.000155119 ENSE00002407712_002 ENSE00002407712 002 18 77104220 77104389 + 45 90 35 A T 77104242 914 23 TTAGACAACATTTTAATTTGGGTTTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344241 79344242 79344242 upstr_intron -23 -0.4888889 TTAGACAACATTTTAATTTGGGTTTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 126 229 1 1 1 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.161057 0.00342667 0.9857121 0.9177582 NA 0.08224183 NA FALSE NA 0.003 0.068 NA NA NA ATP9B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP9B NA NA NA ENSG00000166377 ENSE00003582657 non_coding_transcript_exon_variant -0.03874 0.21382 0.04773 0.156188 0.8135251 0.114106 7.024147e-12 FALSE 1.22462e-05 ENSE00002407712_003 ENSE00002407712 003 18 77104220 77104389 + 45 90 35 C T 77104253 915 34 TTAGACAACATTTTAATTTGGGATTCTTTTTCTTCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344252 79344253 79344253 upstr_intron -12 -0.2444444 TTAGACAACATTTTAATTTGGGATTCTTTTTCTTCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 55 134 1 1 1 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.161057 0.00342667 0.9857121 0.9177582 NA 0.08224183 NA FALSE NA 0 -0.228 . upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1 NA TCC C,T 8.236e-06 18:79344253 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 non_coding_transcript_exon_variant 0.454907 0.17848 0.02345 0.156188 0.4937675 0.250666 7.024147e-12 FALSE 4.06702e-06 ENSE00002407712_005 ENSE00002407712 005 18 77104220 77104389 + 45 90 35 C A 77104270 917 51 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACAAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344269 79344270 79344270 exon 6 0.06666667 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACAAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 160 431 1 0.9800271 0.9900135 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.161057 -0.01654626 0.9857121 0.9177582 NA 0.07225537 NA FALSE NA 0 -0.792 rs144788811 upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 rs144788811 1 NA A:0 A:0.0002 CCA C,A 9.884e-05 18:79344270 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 synonymous_variant 1.336519 0.19118 0.07914 0.732398 0.3637736 0 7.024147e-12 FALSE 8.12466e-05 ENSE00002407712_006 ENSE00002407712 006 18 77104220 77104389 + 45 90 35 C G 77104274 918 55 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTGGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344273 79344274 79344274 exon 10 0.1111111 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTGGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 523 1267 0.9686842 0.9755381 0.9721111 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.1297412 -0.02103525 0.9857121 0.9177582 NA 0.05435298 NA FALSE NA 0.943 2.012 . upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1 NA TCG C,G 8.236e-06 18:79344274 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 missense_variant 4.645349 0.98007 0.9683 0.732398 0.9965397 0 7.024147e-12 FALSE 4.06217e-06 ENSE00002407712_007 ENSE00002407712 007 18 77104220 77104389 + 45 90 35 G A 77104275 919 56 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCAGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344274 79344275 79344275 exon 11 0.1222222 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCAGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant 32 17 0.85 0.85 0.85 NA NA NA NA NA 0.981031 0.9903931 0.838943 0.9965733 -0.131031 -0.1403931 NA NA 0.9857121 0.9177582 -0.1357121 NA NA NA FALSE 1 9.114 . upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1 NA CGG G,A 8.236e-06 18:79344275 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 missense_variant 5.045561 0.99147 0.99503 0.732398 0.9992866 0 7.024147e-12 FALSE 4.06197e-06 ENSE00002407712_008 ENSE00002407712 008 18 77104220 77104389 + 45 90 35 G C 77104276 920 57 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGCGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344275 79344276 79344276 exon 12 0.1333333 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGCGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 775 845 0.9963961 1 0.998198 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.1574531 0.00342667 0.9857121 0.9177582 NA 0.08043986 NA FALSE NA 0.982 0.242 . upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1 NA GGG G,C 8.236e-06 18:79344276 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 synonymous_variant 0.148647 0.9399 0.84895 0.732398 0.5734555 0 7.024147e-12 FALSE 8.12282e-06 ENSE00002407712_010 ENSE00002407712 010 18 77104220 77104389 + 45 90 35 G A 77104282 922 63 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAAGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344281 79344282 79344282 exon 18 0.2 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAAGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 1161 1171 0.9938464 0.8514257 0.9226361 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.1549034 -0.1451476 0.9857121 0.9177582 NA 0.00487789 NA FALSE NA 1 0.769 . upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1 NA AGG G,A 8.236e-06 18:79344282 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 synonymous_variant 0.571818 0.96743 0.89538 0.732398 0.3865413 0 7.024147e-12 FALSE 8.12242e-06 ENSE00002407712_011 ENSE00002407712 011 18 77104220 77104389 + 45 90 35 C T 77104302 923 83 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGTATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344301 79344302 79344302 exon 38 0.4222222 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGTATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 463 862 0.995594 0.9987872 0.9971906 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.156651 0.002213919 0.9857121 0.9177582 NA 0.07943245 NA FALSE NA 1 7.206 . upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1 NA GCA C,T 1.647e-05 18:79344302 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 missense_variant 2.392269 0.99157 0.9926 0.732398 0.9955583 0 7.024147e-12 FALSE 8.12203e-06 ENSE00002407712_013 ENSE00002407712 013 18 77104220 77104389 + 45 90 35 T C 77104318 925 99 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCACGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344317 79344318 79344318 exon -37 0.6 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCACGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 45 1390 1 0.999423 0.9997115 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.161057 0.002849631 0.9857121 0.9177582 NA 0.08195331 NA FALSE NA 0.005 -1.339 NA NA NA ATP9B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:79344318 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 synonymous_variant -0.998981 0.89826 0.18263 0.732398 0.3567908 0 7.024147e-12 FALSE 4.06098e-06 ENSE00002407712_015 ENSE00002407712 015 18 77104220 77104389 + 45 90 35 A G 77104320 927 101 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGGTTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344319 79344320 79344320 exon -35 0.6222222 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGGTTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 618 42 0.92219 1 0.961095 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.08324702 0.00342667 0.9857121 0.9177582 NA 0.04333685 NA FALSE NA 1 8.57 rs141182661 upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 rs141182661 1 NA G:0.0002 G:0.0006 GAT A,G 0.0002553 18:79344320 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 missense_variant 3.198188 0.98933 0.99734 0.732398 0.9937671 0 7.024147e-12 FALSE 0.00024772 ENSE00002407712_016 ENSE00002407712 016 18 77104220 77104389 + 45 90 35 T C 77104321 928 102 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGACTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344320 79344321 79344321 exon -34 0.6333333 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGACTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 121 489 1 0.9985867 0.9992934 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.161057 0.002013385 0.9857121 0.9177582 NA 0.08153519 NA FALSE NA 0.998 0.588 . upstream_gene_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1 NA ATT T,C 8.236e-06 18:79344321 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 synonymous_variant -0.946286 0.94929 0.222 0.732398 0.3447282 0 7.024147e-12 FALSE 4.06095e-06 ENSE00002407712_018 ENSE00002407712 018 18 77104220 77104389 + 45 90 35 T C 77104337 930 118 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATACCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344336 79344337 79344337 exon -18 0.8111111 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATACCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 107 40 1 1 1 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.161057 0.00342667 0.9857121 0.9177582 NA 0.08224183 NA FALSE NA 0.978 1.91 rs150322894 missense_variant&NMD_transcript_variant MODERATE ATP9B HGNC 13541 ENST00000590477 1/8 rs150322894 1 deleterious_low_confidence(0.02) benign(0.033) NA C:0.0002 C:0 ATC T,C 8.236e-06 18:79344337 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 missense_variant 2.246257 0.80989 0.93846 0.732398 0.9748082 0 7.024147e-12 FALSE 4.06138e-06 ENSE00002407712_019 ENSE00002407712 019 18 77104220 77104389 + 45 90 35 G A 77104360 931 141 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGACTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344359 79344360 79344360 downstr_intron 6 1.176471 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGACTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 1026 45 0.864015 1 0.9320075 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.02507195 0.00342667 0.9857121 0.9177582 NA 0.01424931 NA FALSE NA 0.348 0.216 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:79344360 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 splice_region_variant 0.683657 0.88945 0.11841 0.099367 0.6662525 0.204645 7.024147e-12 FALSE 4.06471e-06 ENSE00002407712_021 ENSE00002407712 021 18 77104220 77104389 + 45 90 35 C G 77104361 933 142 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGGTGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344360 79344361 79344361 downstr_intron 7 1.205882 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGGTGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 625 84 0.9980077 1 0.9990039 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.1590647 0.00342667 0.9857121 0.9177582 NA 0.08124569 NA FALSE NA 0.281 0.902 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:79344361 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 splice_region_variant 0.374486 0.56212 0.30581 0.099367 0.5769119 0.136735 7.024147e-12 FALSE 0.000187001 ENSE00002407712_022 ENSE00002407712 022 18 77104220 77104389 + 45 90 35 C A 77104361 934 142 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGATGGACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344360 79344361 79344361 downstr_intron 7 1.205882 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGATGGACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 61 576 1 0.833402 0.916701 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.161057 -0.1631713 0.9857121 0.9177582 NA -0.001057168 NA FALSE NA 0.281 0.902 NA NA NA ATP9B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP9B NA NA NA ENSG00000166377 ENSE00003582657 splice_region_variant 0.565053 0.55502 0.08189 0.099367 0.5454365 0.136735 7.024147e-12 FALSE 8.13048e-06 ENSE00002407712_024 ENSE00002407712 024 18 77104220 77104389 + 45 90 35 G C 77104364 936 145 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGCACCCTGAGTGAGTACATGTCTGTCT 79344219 79344389 79344363 79344364 79344364 downstr_intron 10 1.294118 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGCACCCTGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 207 1875 0.9992589 0.9564889 0.9778739 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.1603159 -0.04008446 0.9857121 0.9177582 NA 0.06011571 NA FALSE NA 0.001 0.062 . intron_variant&NMD_transcript_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1/7 1 NA GGA G,C 3.298e-05 18:79344364 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 intron_variant -0.296585 0.20362 0.1006 0.099367 0.5658751 0.0813857 7.024147e-12 FALSE 1.62666e-05 ENSE00002407712_025 ENSE00002407712 025 18 77104220 77104389 + 45 90 35 T C 77104369 937 150 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCCGAGTGAGTACATGTCTGTCT 79344219 79344389 79344368 79344369 79344369 downstr_intron 15 1.441176 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCCGAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 890 461 0.9974287 0.9885068 0.9929678 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.1584857 -0.008066524 0.9857121 0.9177582 NA 0.07520959 NA FALSE NA 0 -0.494 . intron_variant&NMD_transcript_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1/7 rs199771111 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0006 CTG T,C 0.0005359 18:79344369 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 intron_variant -0.321181 0.07437 0.01338 0.099367 0.7043329 0.0469788 7.024147e-12 FALSE 0.00051277 ENSE00002407712_026 ENSE00002407712 026 18 77104220 77104389 + 45 90 35 G A 77104370 938 151 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTAAGTGAGTACATGTCTGTCT 79344219 79344389 79344369 79344370 79344370 downstr_intron 16 1.470588 TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTAAGTGAGTACATGTCTGTCT TTAGACAACATTTTAATTTGGGATTCTTTTTCTCCCTTAATGGAGGTAACCAGTCGGGGAGAGGCACATTTGGAGCTGAATGCATTTCGAAGGAAGCATGATTGTGCACTAGTCATATCTGGGGACTCTCTGGAGGTAAGGCTGGACCCTGAGTGAGTACATGTCTGTCT mutant NA NA NA NA NA 249 696 0.9973252 0.9972127 0.9972689 0.981031 0.9903931 0.838943 0.9965733 NA NA 0.1583822 0.0006393607 0.9857121 0.9177582 NA 0.07951078 NA FALSE NA 0 -0.505 . intron_variant&NMD_transcript_variant MODIFIER ATP9B HGNC 13541 ENST00000590477 1/7 rs375531703 1 NA A:0.0002 A:0 TGA G,A 8.245e-06 18:79344370 ATP9B HGNC Symbol protein_coding 309002 ENSG00000166377 ENSE00003582657 intron_variant 0.114283 0.0772 0.00597 0.088506 0.5024462 0.0469788 7.024147e-12 FALSE 1.22061e-05 ENSE00002407789_000 ENSE00002407789 000 1 177899650 177899819 - 30 99 41 NA NA NA NA NA AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC 177930514 177930684 NA NA NA NA NA NA AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC natural 128 92 0.85 0.8776032 0.8638016 143 259 0.853679 0.75657 0.8051245 0.85 0.8776032 0.853679 0.75657 0 0 0 0 0.8638016 0.8051245 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003688965 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00002407789_003 ENSE00002407789 003 1 177899650 177899819 - 30 99 41 C T 177899663 4360 157 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGAGGGAGGGGCTGGC 177930514 177930684 177930527 177930528 177930528 downstr_intron 17 1.586207 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGAGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant 35 24 0.784707 0.85 0.8173535 NA NA NA NA NA 0.85 0.8776032 0.853679 0.75657 -0.06529301 -0.02760318 NA NA 0.8638016 0.8051245 -0.04644809 NA NA NA FALSE 0 -0.195 NA NA NA SEC16B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SEC16B NA NA NA ENSG00000120341 ENSE00003688965 intron_variant -0.000198 0.1377 0.00586 0.053691 0.2230238 0.046323 4.436224e-13 FALSE 4.10533e-06 ENSE00002407796_000 ENSE00002407796 000 12 112318201 112318370 + 50 81 39 NA NA NA NA NA CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTCGGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 NA NA NA NA NA NA CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG natural 13 25 0.9911045 0.9990432 0.9950738 406 344 0.9952762 0.9612059 0.978241 0.9911045 0.9990432 0.9952762 0.9612059 0 0 0 0 0.9950738 0.978241 0 0 0 FALSE FALSE NA NA NA NA NA MAPKAPK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAPKAPK5 NA NA NA ENSG00000089022 ENSE00003451946 NA NA NA NA NA NA NA 0.0234226 FALSE NA ENSE00002407796_001 ENSE00002407796 001 12 112318201 112318370 + 50 81 39 A G 112318222 3281 22 CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTCGGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCACTTAATGAAAATCACACCACCG 111880396 111880566 111880417 111880418 111880418 upstr_intron -29 -0.56 CGGTGGTGTGATTTTCATTAAGTGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 85 173 0.9995148 1 0.9997574 0.9911045 0.9990432 0.9952762 0.9612059 NA NA 0.004238683 0.03879408 0.9950738 0.978241 NA 0.02151638 NA FALSE NA 0 -0.145 . intron_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000550735 7/13 1 NA AAT A,G 8.274e-06 12:111880418 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 intron_variant 0.663591 0.21426 0.13217 0.295142 0.5176373 0.0743953 0.0234226 FALSE 3.25119e-05 ENSE00002407796_002 ENSE00002407796 002 12 112318201 112318370 + 50 81 39 G C 112318225 3282 25 CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTCGGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGAGCATTTAATGAAAATCACACCACCG 111880396 111880566 111880420 111880421 111880421 upstr_intron -26 -0.5 CGGTGGTGTGATTTTCATTAAATGCTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 180 929 1 0.996408 0.998204 0.9911045 0.9990432 0.9952762 0.9612059 NA NA 0.004723849 0.03520208 0.9950738 0.978241 NA 0.01996297 NA FALSE NA 0 -0.53 . intron_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000550735 7/13 rs564353819 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GGT G,C 0.0001076 12:111880421 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 intron_variant 0.07533 0.17879 0.07634 0.295142 0.5606961 0.0743953 0.0234226 FALSE 0.000113802 ENSE00002407796_006 ENSE00002407796 006 12 112318201 112318370 + 50 81 39 G A 112318262 3286 62 CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTCGGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGTGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 111880457 111880458 111880458 exon 12 0.1481481 CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCACAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 19 17 1 1 1 0.9911045 0.9990432 0.9952762 0.9612059 NA NA 0.004723849 0.03879408 0.9950738 0.978241 NA 0.02175896 NA FALSE NA 0.938 0.116 . synonymous_variant LOW MAPKAPK5 HGNC 6889 ENST00000550735 8/14 rs367858495 1 NA A:0 A:0.0001 CGC G,A 2.482e-05 12:111880458 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 synonymous_variant 1.134085 0.82704 0.47689 0.706548 0.8070488 0 0.0234226 FALSE 1.62458e-05 ENSE00002407796_009 ENSE00002407796 009 12 112318201 112318370 + 50 81 39 T C 112318289 3289 89 CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTCGGTGAGGTAGGTATGATGCCGGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 111880484 111880485 111880485 exon 39 0.4814815 CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCCGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 1185 60 0.999687 1 0.9998435 0.9911045 0.9990432 0.9952762 0.9612059 NA NA 0.004410872 0.03879408 0.9950738 0.978241 NA 0.02160248 NA FALSE NA 1 3.276 . synonymous_variant LOW MAPKAPK5 HGNC 6889 ENST00000550735 8/14 1 NA CTG T,C 8.271e-06 12:111880485 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 synonymous_variant 0.8907 0.97907 0.95848 0.706548 0.7795875 0 0.0234226 FALSE 4.06138e-06 ENSE00002407796_010 ENSE00002407796 010 12 112318201 112318370 + 50 81 39 A C 112318307 3290 107 CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTCGGGGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 111880502 111880503 111880503 exon -25 0.7037037 CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCCCCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 1156 20 1 1 1 0.9911045 0.9990432 0.9952762 0.9612059 NA NA 0.004723849 0.03879408 0.9950738 0.978241 NA 0.02175896 NA FALSE NA 0.992 0.299 . synonymous_variant LOW MAPKAPK5 HGNC 6889 ENST00000550735 8/14 1 NA CAC A,C 3.309e-05 12:111880503 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 synonymous_variant -0.011928 0.97028 0.88308 0.706548 0.731601 0 0.0234226 FALSE 4.46762e-05 ENSE00002407796_011 ENSE00002407796 011 12 112318201 112318370 + 50 81 39 C T 112318309 3291 109 CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTCAGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 111880504 111880505 111880505 exon -23 0.7283951 CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACTGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 422 65 0.9948765 1 0.9974383 0.9911045 0.9990432 0.9952762 0.9612059 NA NA -0.0003996012 0.03879408 0.9950738 0.978241 NA 0.01919724 NA FALSE NA 1 7.487 . missense_variant MODERATE MAPKAPK5 HGNC 6889 ENST00000550735 8/14 1 tolerated(0.29) benign(0.014) NA CCG C,T 8.272e-06 12:111880505 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 missense_variant 5.727342 0.995 0.99145 0.706548 0.9978679 0 0.0234226 FALSE 4.06187e-06 ENSE00002407796_012 ENSE00002407796 012 12 112318201 112318370 + 50 81 39 G A 112318310 3292 110 CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTTGGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 111880505 111880506 111880506 exon -22 0.7407407 CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCAACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 52 45 1 1 1 0.9911045 0.9990432 0.9952762 0.9612059 NA NA 0.004723849 0.03879408 0.9950738 0.978241 NA 0.02175896 NA FALSE NA 0.898 0.029 . synonymous_variant LOW MAPKAPK5 HGNC 6889 ENST00000550735 8/14 1 NA CGA G,A 8.271e-06 12:111880506 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 synonymous_variant 1.565122 0.95702 0.55731 0.706548 0.7802707 0 0.0234226 FALSE 1.21854e-05 ENSE00002407796_015 ENSE00002407796 015 12 112318201 112318370 + 50 81 39 C T 112318335 3295 135 CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTATACCTTGTTGTAAGTGTAGGGCGTCGGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 111880530 111880531 111880531 downstr_intron 4 1.105263 CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTATAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 77 279 0.9670785 0.9921271 0.9796028 0.9911045 0.9990432 0.9952762 0.9612059 NA NA -0.0281977 0.03092115 0.9950738 0.978241 NA 0.001361727 NA FALSE NA 0.006 -0.045 . splice_region_variant&intron_variant LOW MAPKAPK5 HGNC 6889 ENST00000550735 8/13 rs201330423 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0003 T:0.0001 ACA C,T 8.272e-05 12:111880531 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 splice_region_variant 0.411503 0.24561 0.06271 0.099367 0.8088652 0.178952 0.0234226 FALSE 7.31963e-05 ENSE00002407796_018 ENSE00002407796 018 12 112318201 112318370 + 50 81 39 T G 112318348 3298 148 CTGCATCTGTCAAATGAAGAGACATATCTCTTCCTGTACCTTGTTGTAAGTGTAGGGCGTCGGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACCTGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 111880543 111880544 111880544 downstr_intron 17 1.447368 CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATGTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG mutant NA NA NA NA NA 10 48 0.9843094 1 0.9921547 0.9911045 0.9990432 0.9952762 0.9612059 NA NA -0.01096677 0.03879408 0.9950738 0.978241 NA 0.01391366 NA FALSE NA 0 0.111 . intron_variant MODIFIER MAPKAPK5 HGNC 6889 ENST00000550735 8/13 1 NA TTT T,G 1.654e-05 12:111880544 MAPKAPK5 HGNC Symbol protein_coding 60260 ENSG00000089022 ENSE00003451946 intron_variant 0.409788 0.20619 0.07069 0.099367 0.5034338 0.0564031 0.0234226 FALSE 1.22198e-05 ENSE00002407796_BRK ENSE00002407796 BRK 12 112318201 112318370 + 50 81 39 A,G; T,T NA NA NA CTGCATCTGTCAAATGAAGAGAAATATCTCTTCCTGTGGCTTGTTGTAAGTGTAGGGCGTCGGTGAGGTAGGTATGATGCCAGATTTCTCCTTCTGATGCCTTCTTTGCGCCTCCAGTACAAGTCAAGAGTCAGACCAAAGGGGACCATTTAATGAAAATCACACCACCG 111880396 111880566 NA NA NA NA NA NA CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACTTGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGCCACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG CGGTGGTGTGATTTTCATTAAATGGTCCCCTTTGGTCTGACTCTTGACAGGTACTGGAGGCGCAAAGAAGGCATCAGAAGGAGAAATCTGGCATCATACCTACCTCACCGACGCCCTACACTTACAACAAGGTACAGGAAGAGATATTTCTCTTCATTTGACAGATGCAG control NA NA NA NA NA 136 174 0.4906788 0.403852 0.4472654 0.9911045 0.9990432 0.9952762 0.9612059 NA NA -0.5045974 -0.557354 0.9950738 0.978241 NA -0.5309757 NA TRUE NA NA NA NA NA NA MAPKAPK5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MAPKAPK5 NA NA NA ENSG00000089022 ENSE00003451946 NA NA NA NA NA NA NA 0.0234226 FALSE NA ENSE00002407981_000 ENSE00002407981 000 2 103310828 103310997 + 45 90 35 NA NA NA NA NA TATCATTAAAATTATTACACTCTCTTAACACCTACCCGACAATAGATTTCTTCACTGACAGCTTGTTGTTTCTTATTGGACCTCTTGACATCAAGAAACTCCACCAGTGGTCGAATAGTTATTCCCTGAACAGGAAACACAATTTAAGCATTTCATATATATTTATACAA 102694368 102694538 NA NA NA NA NA NA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA natural NA NA NA NA NA 1922 2184 0.9646292 0.9956667 0.980148 NA NA 0.9646292 0.9956667 NA NA 0 0 NA 0.980148 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC9A2 NA NA NA ENSG00000115616 ENSE00003521352 NA NA NA NA NA NA NA 0.4811613 FALSE NA ENSE00002407981_003 ENSE00002407981 003 2 103310828 103310997 + 45 90 35 T G 103310848 2363 21 TATCATTAAAATTATTACACTCTCTTAACACCTACCCGACAATAGATTTCTTCACTGACAGCTTGTTGTTTCTTATTGGACCTCTTGACATCAAGAAACTCCACCAGTGGTCGAATAGTTATTCCCTGAACAGGAAACACAATTTAAGCCTTTCATATATATTTATACAA 102694368 102694538 102694388 102694389 102694389 upstr_intron -25 -0.5333333 TTGTATAAATATATATGAAAGGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA mutant NA NA NA NA NA 149 610 1 0.9997406 0.9998703 NA NA 0.9646292 0.9956667 NA NA 0.0353708 0.004073909 NA 0.980148 NA 0.01972235 NA FALSE NA 0 -1.949 NA NA NA SLC9A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:102694389 SLC9A2 HGNC Symbol protein_coding 91611 ENSG00000115616 ENSE00003521352 intron_variant -0.275141 0.15373 0.01742 0.074636 0.6248682 0.0443366 0.4811613 FALSE 1.10724e-05 ENSE00002407981_004 ENSE00002407981 004 2 103310828 103310997 + 45 90 35 T C 103310856 2364 29 TATCATTAAAATTATTACACTCTCTTAACACCTACCCGACAATAGATTTCTTCACTGACAGCTTGTTGTTTCTTATTGGACCTCTTGACATCAAGAAACTCCACCAGTGGTCGAATAGTTATTCCCTGAACAGGAAACACAGTTTAAGCATTTCATATATATTTATACAA 102694368 102694538 102694396 102694397 102694397 upstr_intron -17 -0.3555556 TTGTATAAATATATATGAAATGCTTAAACTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA mutant NA NA NA NA NA 337 428 0.9453592 0.9996303 0.9724947 NA NA 0.9646292 0.9956667 NA NA -0.01927001 0.003963569 NA 0.980148 NA -0.00765322 NA FALSE NA 0.005 0.594 . intron_variant MODIFIER SLC9A2 HGNC 11072 ENST00000233969 5/11 1 NA ATT T,C 8.237e-06 2:102694397 SLC9A2 HGNC Symbol protein_coding 91611 ENSG00000115616 ENSE00003521352 intron_variant -0.326992 0.22118 0.06135 0.074636 0.6996794 0.0448725 0.4811613 FALSE NA ENSE00002407981_005 ENSE00002407981 005 2 103310828 103310997 + 45 90 35 G T 103310867 2365 40 TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTTTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA 102694368 102694538 102694407 102694408 102694408 upstr_intron -6 -0.1111111 TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTTTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA mutant NA NA NA NA NA 97 257 1 0.9925426 0.9962713 NA NA 0.9646292 0.9956667 NA NA 0.0353708 -0.003124105 NA 0.980148 NA 0.01612335 NA FALSE NA 0 -0.25 . splice_region_variant&intron_variant LOW SLC9A2 HGNC 11072 ENST00000233969 5/11 1 NA TGT G,T 8.236e-06 2:102694408 SLC9A2 HGNC Symbol protein_coding 91611 ENSG00000115616 ENSE00003521352 splice_region_variant 0.1018 0.31046 0.028 0.061011 0.5568013 0.0443366 0.4811613 FALSE 4.48934e-06 ENSE00002407981_009 ENSE00002407981 009 2 103310828 103310997 + 45 90 35 T C 103310900 2369 73 TATCATTAAAATTATTACACTCTCTTAACACCTACCCGACAATAGATTTCTTCACTGACAGCTTGTTGTTTCTTATTGGACCTCTTGACATCAAGAAGCTCCACCAGTGGTCGAATAGTTATTCCCTGAACAGGAAACACAATTTAAGCATTTCATATATATTTATACAA 102694368 102694538 102694440 102694441 102694441 exon 28 0.3111111 TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGCTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA mutant NA NA NA NA NA 798 233 0.9932094 1 0.9966047 NA NA 0.9646292 0.9956667 NA NA 0.02858022 0.004333263 NA 0.980148 NA 0.01645674 NA FALSE NA 1 4.284 . missense_variant MODERATE SLC9A2 HGNC 11072 ENST00000233969 6/12 1 tolerated(1) benign(0.014) NA GTT T,C 8.236e-06 2:102694441 SLC9A2 HGNC Symbol protein_coding 91611 ENSG00000115616 ENSE00003521352 missense_variant 1.68358 0.98686 0.94423 0.553676 0.7457021 0 0.4811613 FALSE 4.15203e-06 ENSE00002407981_011 ENSE00002407981 011 2 103310828 103310997 + 45 90 35 G A 103310909 2371 82 TATCATTAAAATTATTACACTCTCTTAACACCTACCCGACAATAGATTTCTTCACTGACAGCTTGTTGTTTCTTATTGGACCTCTTGATATCAAGAAACTCCACCAGTGGTCGAATAGTTATTCCCTGAACAGGAAACACAATTTAAGCATTTCATATATATTTATACAA 102694368 102694538 102694449 102694450 102694450 exon 37 0.4111111 TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATATCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA mutant NA NA NA NA NA 21 274 0.95 0.9940943 0.9720472 NA NA 0.9646292 0.9956667 NA NA -0.0146292 -0.001572432 NA 0.980148 NA -0.008100816 NA FALSE NA 1 5.704 . missense_variant MODERATE SLC9A2 HGNC 11072 ENST00000233969 6/12 1 tolerated(0.09) benign(0.273) NA TGT G,A 1.647e-05 2:102694450 SLC9A2 HGNC Symbol protein_coding 91611 ENSG00000115616 ENSE00003521352 missense_variant 3.66069 0.9941 0.97339 0.553676 0.9975408 0 0.4811613 FALSE 1.23951e-05 ENSE00002407981_013 ENSE00002407981 013 2 103310828 103310997 + 45 90 35 T C 103310918 2373 91 TATCATTAAAATTATTACACTCTCTTAACACCTACCCGACAATAGATTTCTTCACTGACAGCTTGTTGTTTCTTATTGGGCCTCTTGACATCAAGAAACTCCACCAGTGGTCGAATAGTTATTCCCTGAACAGGAAACACAATTTAAGCATTTCATATATATTTATACAA 102694368 102694538 102694458 102694459 102694459 exon -45 0.5111111 TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGCCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA mutant NA NA NA NA NA 38 11 0.9921637 1 0.9960819 NA NA 0.9646292 0.9956667 NA NA 0.02753453 0.004333263 NA 0.980148 NA 0.0159339 NA FALSE NA 1 0.955 . missense_variant MODERATE SLC9A2 HGNC 11072 ENST00000233969 6/12 1 deleterious(0.02) benign(0.265) NA GTC T,C 8.236e-06 2:102694459 SLC9A2 HGNC Symbol protein_coding 91611 ENSG00000115616 ENSE00003521352 missense_variant 2.661735 0.97415 0.89933 0.553676 0.9970655 0 0.4811613 FALSE NA ENSE00002407981_017 ENSE00002407981 017 2 103310828 103310997 + 45 90 35 T A 103310957 2377 130 TATCATTAAAATTATTACACTCTCTTAACACCTACCCGACTATAGATTTCTTCACTGACAGCTTGTTGTTTCTTATTGGACCTCTTGACATCAAGAAACTCCACCAGTGGTCGAATAGTTATTCCCTGAACAGGAAACACAATTTAAGCATTTCATATATATTTATACAA 102694368 102694538 102694497 102694498 102694498 exon -6 0.9444444 TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATAGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA mutant NA NA NA NA NA 509 533 1 0.9997032 0.9998516 NA NA 0.9646292 0.9956667 NA NA 0.0353708 0.004036427 NA 0.980148 NA 0.01970361 NA FALSE NA 0.996 1.662 . missense_variant MODERATE SLC9A2 HGNC 11072 ENST00000233969 6/12 1 tolerated(0.72) benign(0.005) NA TTG T,A 8.237e-06 2:102694498 SLC9A2 HGNC Symbol protein_coding 91611 ENSG00000115616 ENSE00003521352 missense_variant 0.900182 0.92135 0.58671 0.553676 0.7182441 0 0.4811613 FALSE 8.40739e-06 ENSE00002407981_019 ENSE00002407981 019 2 103310828 103310997 + 45 90 35 A G 103310973 2379 146 TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAGGAGAGTGTAATAATTTTAATGATA 102694368 102694538 102694513 102694514 102694514 downstr_intron 11 1.323529 TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAGGAGAGTGTAATAATTTTAATGATA TTGTATAAATATATATGAAATGCTTAAATTGTGTTTCCTGTTCAGGGAATAACTATTCGACCACTGGTGGAGTTTCTTGATGTCAAGAGGTCCAATAAGAAACAACAAGCTGTCAGTGAAGAAATCTATTGTCGGGTAGGTGTTAAGAGAGTGTAATAATTTTAATGATA mutant NA NA NA NA NA 426 566 0.9853134 0.9860402 0.9856768 NA NA 0.9646292 0.9956667 NA NA 0.02068415 -0.009626493 NA 0.980148 NA 0.005528829 NA FALSE NA 0 -0.38 . intron_variant MODIFIER SLC9A2 HGNC 11072 ENST00000233969 6/11 1 NA AAG A,G 4.942e-05 2:102694514 SLC9A2 HGNC Symbol protein_coding 91611 ENSG00000115616 ENSE00003521352 intron_variant 0.435675 0.22627 0.0176 0.061011 0.568501 0.0431032 0.4811613 FALSE 4.74461e-05 ENSE00002408555_000 ENSE00002408555 000 7 152522071 152522240 + 44 93 33 NA NA NA NA NA GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 NA NA NA NA NA NA GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC natural 365 604 0.8638792 0.8208019 0.8423406 3648 1468 0.9128601 0.8788627 0.8958614 0.8638792 0.8208019 0.9128601 0.8788627 0 0 0 0 0.8423406 0.8958614 0 0 0 FALSE FALSE NA NA NA NA NA ACTR3B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ACTR3B NA NA NA ENSG00000133627 ENSE00003462962 NA NA NA NA NA NA NA 0.9975472 TRUE NA ENSE00002408555_002 ENSE00002408555 002 7 152522071 152522240 + 44 93 33 G A 152522087 3198 17 GAGAGAAATGTGTAATATTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825001 152825002 152825002 upstr_intron -28 -0.6136364 GAGAGAAATGTGTAATATTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 337 383 0.8756209 0.876163 0.8758919 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.03723921 -0.002699698 0.8423406 0.8958614 NA -0.01996946 NA FALSE NA 0 -0.648 . intron_variant MODIFIER ACTR3B HGNC 17256 ENST00000537264 7/10 rs376278131 1 NA A:0 A:0.0001 TGT G,A 8.236e-06 7:152825002 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 intron_variant 0.18186 0.17534 0.05896 0.162113 0.5010964 0.0448725 0.9975472 TRUE 4.16618e-06 ENSE00002408555_003 ENSE00002408555 003 7 152522071 152522240 + 44 93 33 A T 152522102 3199 32 GAGAGAAATGTGTAATGTTTCTTTTATATTGTTACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825016 152825017 152825017 upstr_intron -13 -0.2727273 GAGAGAAATGTGTAATGTTTCTTTTATATTGTTACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 279 385 0.9973143 0.9878736 0.9925939 0.8638792 0.8208019 0.9128601 0.8788627 NA NA 0.08445415 0.1090109 0.8423406 0.8958614 NA 0.09673253 NA FALSE NA 0 -1.351 . intron_variant MODIFIER ACTR3B HGNC 17256 ENST00000537264 7/10 1 NA GAT A,T 8.236e-06 7:152825017 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 intron_variant -0.115149 0.1203 0.04957 0.162113 0.589917 0.0769011 0.9975472 TRUE 4.10624e-06 ENSE00002408555_004 ENSE00002408555 004 7 152522071 152522240 + 44 93 33 A G 152522106 3200 36 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACGCAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825020 152825021 152825021 upstr_intron -9 -0.1818182 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACGCAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 373 503 0.8 0.8549733 0.8274866 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.1128601 -0.0238894 0.8423406 0.8958614 NA -0.06837477 NA FALSE NA 0 -0.879 . intron_variant MODIFIER ACTR3B HGNC 17256 ENST00000537264 7/10 rs200266060 1 NA CAC A,G 4.942e-05 7:152825021 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 intron_variant 0.468034 0.13674 0.01114 0.162113 0.7526337 0.184535 0.9975472 TRUE 6.95422e-05 ENSE00002408555_005 ENSE00002408555 005 7 152522071 152522240 + 44 93 33 C A 152522107 3201 37 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACAAAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825021 152825022 152825022 upstr_intron -8 -0.1590909 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACAAAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 385 815 0.8376905 0.8518878 0.8447891 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.07516964 -0.02697487 0.8423406 0.8958614 NA -0.05107225 NA FALSE NA 0.051 0.115 . splice_region_variant&intron_variant LOW ACTR3B HGNC 17256 ENST00000537264 7/10 1 NA ACA C,A 8.236e-06 7:152825022 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 splice_region_variant 0.81147 0.14271 0.0027 0.162113 0.6201299 0.193807 0.9975472 TRUE 4.08995e-06 ENSE00002408555_006 ENSE00002408555 006 7 152522071 152522240 + 44 93 33 A G 152522128 3202 58 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGGCTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825042 152825043 152825043 exon 14 0.1505376 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGGCTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 182 31 0.9228727 0.95 0.9364364 0.8638792 0.8208019 0.9128601 0.8788627 NA NA 0.01001259 0.07113733 0.8423406 0.8958614 NA 0.04057496 NA FALSE NA 1 8.854 . missense_variant MODERATE ACTR3B HGNC 17256 ENST00000537264 8/11 1 deleterious(0) possibly_damaging(0.854) NA GAC A,G 8.236e-06 7:152825043 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 missense_variant 6.383297 0.99038 0.98611 0.706548 0.9983477 0 0.9975472 TRUE 4.0785e-06 ENSE00002408555_008 ENSE00002408555 008 7 152522071 152522240 + 44 93 33 A G 152522137 3204 67 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGGGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825051 152825052 152825052 exon 23 0.2473118 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGGGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 199 2494 0.003449455 0.0140952 0.008772327 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.9094107 -0.8647675 0.8423406 0.8958614 NA -0.8870891 NA TRUE NA 1 7.004 . missense_variant MODERATE ACTR3B HGNC 17256 ENST00000537264 8/11 1 deleterious(0.02) benign(0.102) NA GAG A,G 8.236e-06 7:152825052 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 missense_variant 4.741784 0.99038 0.97555 0.706548 0.9991402 0 0.9975472 TRUE 4.07043e-06 ENSE00002408555_009 ENSE00002408555 009 7 152522071 152522240 + 44 93 33 A G 152522158 3205 88 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGGTGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825072 152825073 152825073 exon 44 0.4731183 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGGTGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 292 387 0.8416696 0.8913618 0.8665157 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.07119056 0.01249909 0.8423406 0.8958614 NA -0.02934574 NA FALSE NA 1 8.854 . missense_variant MODERATE ACTR3B HGNC 17256 ENST00000537264 8/11 1 deleterious(0.01) probably_damaging(0.999) NA GAT A,G 1.647e-05 7:152825073 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 missense_variant 6.241916 0.99038 0.98611 0.706548 0.9985017 0 0.9975472 TRUE 8.13279e-06 ENSE00002408555_010 ENSE00002408555 010 7 152522071 152522240 + 44 93 33 A G 152522162 3206 92 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAGGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825076 152825077 152825077 exon -46 0.516129 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAGGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 853 469 0.004030597 0.05341031 0.02872045 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.9088295 -0.8254524 0.8423406 0.8958614 NA -0.867141 NA TRUE NA 0.998 0.719 . synonymous_variant LOW ACTR3B HGNC 17256 ENST00000537264 8/11 1 NA AAG A,G 8.236e-06 7:152825077 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 synonymous_variant 0.510051 0.95822 0.70069 0.706548 0.7142825 0 0.9975472 TRUE 8.13339e-06 ENSE00002408555_011 ENSE00002408555 011 7 152522071 152522240 + 44 93 33 C T 152522183 3207 113 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATTGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825097 152825098 152825098 exon -25 0.7419355 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATTGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 1135 151 0.7029183 0.790224 0.7465711 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.2099418 -0.0886387 0.8423406 0.8958614 NA -0.1492903 NA FALSE NA 0.959 0.085 rs148057433 synonymous_variant LOW ACTR3B HGNC 17256 ENST00000537264 8/11 rs148057433 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0061 T:0 TCG C,T 0.0004365 7:152825098 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 synonymous_variant 1.848466 0.94373 0.44745 0.706548 0.7367966 0 0.9975472 TRUE 0.000284794 ENSE00002408555_012 ENSE00002408555 012 7 152522071 152522240 + 44 93 33 T G 152522188 3208 118 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGGGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825102 152825103 152825103 exon -20 0.7956989 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGGGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 348 114 0.09004874 0 0.04502437 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.8228114 -0.8788627 0.8423406 0.8958614 NA -0.850837 NA TRUE NA 1 7.63 . missense_variant MODERATE ACTR3B HGNC 17256 ENST00000537264 8/11 1 deleterious(0.04) possibly_damaging(0.722) NA GTG T,G 8.236e-06 7:152825103 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 missense_variant 4.166188 0.99126 0.98296 0.706298 0.9926688 0 0.9975472 TRUE 8.13656e-06 ENSE00002408555_013 ENSE00002408555 013 7 152522071 152522240 + 44 93 33 C T 152522190 3209 120 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGTGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825104 152825105 152825105 exon -18 0.8172043 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGTGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 758 149 0.8073799 0.9334476 0.8704138 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.1054802 0.05458495 0.8423406 0.8958614 NA -0.02544765 NA FALSE NA 0.304 0.868 . missense_variant MODERATE ACTR3B HGNC 17256 ENST00000537264 8/11 1 deleterious(0) probably_damaging(1) NA GCG C,T 1.647e-05 7:152825105 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 missense_variant 7.452486 0.98358 0.55925 0.706548 0.9985352 0 0.9975472 TRUE NA ENSE00002408555_014 ENSE00002408555 014 7 152522071 152522240 + 44 93 33 C T 152522197 3210 127 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCTGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825111 152825112 152825112 exon -11 0.8924731 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCTGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 1639 461 0.8662255 0.9763858 0.9213056 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.04663467 0.09752313 0.8423406 0.8958614 NA 0.02544423 NA FALSE NA 1 7.42 . missense_variant MODERATE ACTR3B HGNC 17256 ENST00000537264 8/11 COSM600128 1 tolerated(0.08) possibly_damaging(0.577) NA CCG C,T 8.236e-06 7:152825112 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 missense_variant 5.28847 0.98613 0.9714 0.706548 0.9976873 0 0.9975472 TRUE 1.22111e-05 ENSE00002408555_015 ENSE00002408555 015 7 152522071 152522240 + 44 93 33 G A 152522198 3211 128 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCACTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825112 152825113 152825113 exon -10 0.9032258 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCACTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 161 538 0.8111658 0.8179082 0.814537 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.1016943 -0.06095449 0.8423406 0.8958614 NA -0.08132439 NA FALSE NA 0.023 -1.34 rs141764620 synonymous_variant LOW ACTR3B HGNC 17256 ENST00000537264 8/11 rs141764620 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0005 A:0 CGC G,A 4.118e-05 7:152825113 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 synonymous_variant 1.204765 0.5769 0.06143 0.706548 0.6925188 0 0.9975472 TRUE 2.85605e-05 ENSE00002408555_017 ENSE00002408555 017 7 152522071 152522240 + 44 93 33 A G 152522210 3213 140 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTGTGAGCTGCCTGGGTAAGGTACTTTGATTTC 152824985 152825155 152825124 152825125 152825125 downstr_intron 3 1.09375 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTGTGAGCTGCCTGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 31 357 0.02566212 0 0.01283106 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.887198 -0.8788627 0.8423406 0.8958614 NA -0.8830303 NA TRUE NA 1 4.329 . splice_region_variant&intron_variant LOW ACTR3B HGNC 17256 ENST00000537264 8/10 1 NA TAT A,G 8.236e-06 7:152825125 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 splice_region_variant 1.198595 0.95227 0.76758 0.062308 0.8115207 0.34488 0.9975472 TRUE 4.09725e-06 ENSE00002408555_018 ENSE00002408555 018 7 152522071 152522240 + 44 93 33 T G 152522220 3214 150 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCGGGGTAAGGTACTTTGATTTC 152824985 152825155 152825134 152825135 152825135 downstr_intron 13 1.40625 GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCGGGGTAAGGTACTTTGATTTC GAGAGAAATGTGTAATGTTTCTTTTATATTGATACACAATTCAGTTTGCCAACCCAGACTTTATGGAGTCCATCTCAGATGTTGTTGATGAAGTAATACAGAACTGCCCCATCGATGTGCGGCGCCCGCTGTATAAGGTATGAGCTGCCTGGGTAAGGTACTTTGATTTC mutant NA NA NA NA NA 89 334 0.8143881 0.8257549 0.8200715 0.8638792 0.8208019 0.9128601 0.8788627 NA NA -0.09847209 -0.05310773 0.8423406 0.8958614 NA -0.07578991 NA FALSE NA 0.001 0.089 . intron_variant MODIFIER ACTR3B HGNC 17256 ENST00000537264 8/10 1 NA CTG T,G 8.236e-06 7:152825135 ACTR3B HGNC Symbol protein_coding 95629 ENSG00000133627 ENSE00003462962 intron_variant 0.159264 0.16672 0.05794 0.099367 0.5123864 0.0455939 0.9975472 TRUE 8.253e-06 ENSE00002408722_000 ENSE00002408722 000 5 158141078 158141247 - 47 66 57 NA NA NA NA NA TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 NA NA NA NA NA NA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA natural 84 85 0.9976142 0.9931249 0.9953696 2438 896 0.9560114 0.9676859 0.9618486 0.9976142 0.9931249 0.9560114 0.9676859 0 0 0 0 0.9953696 0.9618486 0 0 0 FALSE FALSE NA NA NA NA NA EBF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA EBF1 NA NA NA ENSG00000164330 ENSE00003650111 NA NA NA NA NA NA NA 0.9962645 TRUE NA ENSE00002408722_001 ENSE00002408722 001 5 158141078 158141247 - 47 66 57 G A 158141090 2079 158 TAATTGCATGTGACAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714081 158714082 158714082 downstr_intron 35 1.76087 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGTCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 234 518 0.9913013 0.9961629 0.9937321 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.03528988 0.02847699 0.9953696 0.9618486 NA 0.03188344 NA FALSE NA 0 -0.449 . intron_variant MODIFIER EBF1 HGNC 3126 ENST00000380654 11/14 1 NA GGC G,A 8.236e-06 5:158714082 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 intron_variant 0.212973 0.19118 0.0376 0.156188 0.4813971 0.0450783 0.9962645 TRUE 4.08183e-06 ENSE00002408722_002 ENSE00002408722 002 5 158141078 158141247 - 47 66 57 C T 158141115 2080 133 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCATAGCGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714106 158714107 158714107 downstr_intron 10 1.217391 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTATGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 134 762 1 0.99995 0.999975 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04398858 0.03226417 0.9953696 0.9618486 NA 0.03812637 NA FALSE NA 0 -0.313 . intron_variant MODIFIER EBF1 HGNC 3126 ENST00000380654 11/14 1 NA ACA C,T 8.236e-06 5:158714107 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 intron_variant 0.116426 0.25823 0.04012 0.156188 0.4917673 0.0450783 0.9962645 TRUE 4.06517e-06 ENSE00002408722_004 ENSE00002408722 004 5 158141078 158141247 - 47 66 57 C T 158141118 2082 130 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGTGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714109 158714110 158714110 downstr_intron 7 1.152174 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCACTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 83 598 1 0.9999363 0.9999682 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04398858 0.03225046 0.9953696 0.9618486 NA 0.03811952 NA FALSE NA 0 -0.517 rs151118528 splice_region_variant&intron_variant LOW EBF1 HGNC 3126 ENST00000380654 11/14 rs151118528 1 T:0.0030 T:0.0106 T:0.0014 NA T:0 T:0 T:0 T:0.0104 T:0.0001 GCG C,T 0.00103 5:158714110 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 splice_region_variant 0.328421 0.17579 0.03816 0.156188 0.5687202 0.0869237 0.9962645 TRUE 0.000841402 ENSE00002408722_005 ENSE00002408722 005 5 158141078 158141247 - 47 66 57 G A 158141119 2083 129 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCACTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714110 158714111 158714111 downstr_intron 6 1.130435 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGTGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 699 50 0.9984618 1 0.9992309 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04245041 0.03231413 0.9953696 0.9618486 NA 0.03738227 NA FALSE NA 0 -2.092 . splice_region_variant&intron_variant LOW EBF1 HGNC 3126 ENST00000380654 11/14 1 NA CGC G,A 8.236e-05 5:158714111 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 splice_region_variant 0.817228 0.17594 0.05079 0.156188 0.7330532 0.0904043 0.9962645 TRUE 5.69055e-05 ENSE00002408722_006 ENSE00002408722 006 5 158141078 158141247 - 47 66 57 C T 158141122 2084 126 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTTACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714113 158714114 158714114 downstr_intron 3 1.065217 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTAAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 99 1325 0.9995836 0.8427896 0.9211866 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04357214 -0.1248963 0.9953696 0.9618486 NA -0.04066208 NA FALSE NA 1 1.347 . splice_region_variant&intron_variant LOW EBF1 HGNC 3126 ENST00000380654 11/14 1 NA TCA C,T 8.236e-06 5:158714114 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 splice_region_variant 1.66916 0.93276 0.55865 0.156188 0.8451084 0.451608 0.9962645 TRUE NA ENSE00002408722_007 ENSE00002408722 007 5 158141078 158141247 - 47 66 57 T C 158141129 2085 119 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGCTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714120 158714121 158714121 exon -5 0.9393939 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAGCCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 1474 138 0.9753467 0.9965955 0.9859711 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.01933531 0.02890961 0.9953696 0.9618486 NA 0.02412246 NA FALSE NA 1 8.042 . missense_variant MODERATE EBF1 HGNC 3126 ENST00000380654 11/15 1 tolerated(0.1) benign(0.051) NA GTT T,C 4.118e-05 5:158714121 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 missense_variant 1.9872 0.97223 0.95307 0.562547 0.9987917 0 0.9962645 TRUE 4.87496e-05 ENSE00002408722_008 ENSE00002408722 008 5 158141078 158141247 - 47 66 57 T C 158141132 2086 116 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGTTGCTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714123 158714124 158714124 exon -8 0.8939394 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAGCAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 1020 819 0.9969721 0.9995807 0.9982764 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04096067 0.03189482 0.9953696 0.9618486 NA 0.03642775 NA FALSE NA 1 8.042 . missense_variant MODERATE EBF1 HGNC 3126 ENST00000380654 11/15 1 tolerated(0.32) benign(0.002) NA GTT T,C 1.647e-05 5:158714124 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 missense_variant 1.647565 0.97223 0.95307 0.562547 0.9979287 0 0.9962645 TRUE 8.12407e-06 ENSE00002408722_012 ENSE00002408722 012 5 158141078 158141247 - 47 66 57 C G 158141161 2090 87 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACGAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714152 158714153 158714153 exon 30 0.4545455 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTCGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 251 158 0.9981824 1 0.9990912 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04217095 0.03231413 0.9953696 0.9618486 NA 0.03724254 NA FALSE NA 1 1.266 . synonymous_variant LOW EBF1 HGNC 3126 ENST00000380654 11/15 1 NA CCA C,G 8.236e-06 5:158714153 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 synonymous_variant 0.731026 0.94062 0.82456 0.562547 0.7285781 0 0.9962645 TRUE 4.06128e-06 ENSE00002408722_014 ENSE00002408722 014 5 158141078 158141247 - 47 66 57 C T 158141167 2092 81 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCTGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714158 158714159 158714159 exon 24 0.3636364 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCAGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 227 52 0.9842916 1 0.9921458 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.02828014 0.03231413 0.9953696 0.9618486 NA 0.03029713 NA FALSE NA 0.001 -1.39 . synonymous_variant LOW EBF1 HGNC 3126 ENST00000380654 11/15 COSM1065106 1 NA CCG C,T 3.295e-05 5:158714159 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 synonymous_variant 1.482108 0.2412 0.03489 0.562547 0.5246761 0 0.9962645 TRUE 2.84294e-05 ENSE00002408722_015 ENSE00002408722 015 5 158141078 158141247 - 47 66 57 C A 158141172 2093 76 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGACCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714163 158714164 158714164 exon 19 0.2878788 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGTCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 168 101 1 1 1 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04398858 0.03231413 0.9953696 0.9618486 NA 0.03815135 NA FALSE NA 1 7.82 . missense_variant MODERATE EBF1 HGNC 3126 ENST00000380654 11/15 1 deleterious(0) probably_damaging(1) NA GCC C,A 8.236e-06 5:158714164 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 missense_variant 6.559748 0.97877 0.96216 0.562547 0.9973317 0 0.9962645 TRUE 4.06121e-06 ENSE00002408722_016 ENSE00002408722 016 5 158141078 158141247 - 47 66 57 C T 158141187 2094 61 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTATTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGCAGGTTGTCGTTATCTTT 158714069 158714239 158714178 158714179 158714179 exon 4 0.06060606 AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAATAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 1338 61 0.9987321 1 0.999366 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04272065 0.03231413 0.9953696 0.9618486 NA 0.03751739 NA FALSE NA 1 7.82 . missense_variant MODERATE EBF1 HGNC 3126 ENST00000380654 11/15 COSM1065107 1 tolerated(0.54) benign(0) NA ACT C,T 8.236e-06 5:158714179 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 missense_variant 2.08257 0.98153 0.96491 0.566229 0.9963044 0 0.9962645 TRUE 4.06157e-06 ENSE00002408722_017 ENSE00002408722 017 5 158141078 158141247 - 47 66 57 C A 158141230 2095 18 TAATTGCATGTGGCAGTCCACACAGGCTAGACACCCACAGCGCTCACCTGGTTGTTGTGTGGCATCCCATACAGTGCTTCTACCAGATCCGCAGCCCTTTTGAGTATTACTTCCTGTCAAGAGAAAAGCAGATACAATCCTTTGAGTGAAGGAAGGTTGTCGTTATCTTT 158714069 158714239 158714221 158714222 158714222 upstr_intron -40 -0.6842105 AAAGATAACGACAACCTTCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA AAAGATAACGACAACCTGCCTTCACTCAAAGGATTGTATCTGCTTTTCTCTTGACAGGAAGTAATACTCAAAAGGGCTGCGGATCTGGTAGAAGCACTGTATGGGATGCCACACAACAACCAGGTGAGCGCTGTGGGTGTCTAGCCTGTGTGGACTGCCACATGCAATTA mutant NA NA NA NA NA 2685 1022 0.9978811 0.9998079 0.9988445 0.9976142 0.9931249 0.9560114 0.9676859 NA NA 0.04186963 0.03212206 0.9953696 0.9618486 NA 0.03699585 NA FALSE NA 0.297 0.863 . intron_variant MODIFIER EBF1 HGNC 3126 ENST00000380654 10/14 rs370368323 1 NA A:0.0014 A:0 GCA C,A 9.06e-05 5:158714222 EBF1 HGNC Symbol protein_coding 403845 ENSG00000164330 ENSE00003650111 intron_variant 0.666883 0.42703 0.3883 0.091178 0.526652 0.644608 0.9962645 TRUE 8.94353e-05 ENSE00002408800_000 ENSE00002408800 000 3 69299143 69299312 - 51 57 62 NA NA NA NA NA AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 NA NA NA NA NA NA AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT natural 106 133 0.989059 0.9868363 0.9879477 4934 4656 0.9818437 0.9606462 0.971245 0.989059 0.9868363 0.9818437 0.9606462 0 0 0 0 0.9879477 0.971245 0 0 0 FALSE FALSE NA NA NA NA NA FRMD4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4B NA NA NA ENSG00000114541 ENSE00003620942 NA NA NA NA NA NA NA 0.8070137 FALSE NA ENSE00002408800_001 ENSE00002408800 001 3 69299143 69299312 - 51 57 62 G A 69299160 2026 153 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCTTTGTGTTTGTTCGTTTT 69249991 69250161 69250008 69250009 69250009 downstr_intron 34 1.68 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCTTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 744 444 0.8295183 1 0.9147592 0.989059 0.9868363 0.9818437 0.9606462 NA NA -0.1523254 0.03935376 0.9879477 0.971245 NA -0.05648581 NA FALSE NA 0 -0.223 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 6/7 1 NA AGG G,A 8.275e-06 3:69250009 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 intron_variant 0.707436 0.20406 0.01288 0.095506 0.7944722 0.149829 0.8070137 FALSE 4.0784e-06 ENSE00002408800_003 ENSE00002408800 003 3 69299143 69299312 - 51 57 62 G C 69299164 2028 149 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGGTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250012 69250013 69250013 downstr_intron 30 1.6 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGGTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 361 680 0.8979983 0.7104681 0.8042332 0.989059 0.9868363 0.9818437 0.9606462 NA NA -0.08384537 -0.2501781 0.9879477 0.971245 NA -0.1670117 NA FALSE NA 0.001 0.723 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 6/7 1 NA AGC G,C 8.275e-06 3:69250013 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 intron_variant 0.634652 0.26143 0.11718 0.095506 0.6457984 0.149731 0.8070137 FALSE 4.07206e-06 ENSE00002408800_004 ENSE00002408800 004 3 69299143 69299312 - 51 57 62 A C 69299171 2029 142 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCGTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250019 69250020 69250020 downstr_intron 23 1.46 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCGTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 774 189 0.9969878 0.822564 0.9097759 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01514409 -0.1380822 0.9879477 0.971245 NA -0.06146907 NA FALSE NA 0.013 1.667 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 6/7 1 NA AAG A,C 8.275e-06 3:69250020 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 intron_variant 0.757206 0.24444 0.14863 0.095506 0.6452375 0.189115 0.8070137 FALSE 4.06722e-06 ENSE00002408800_005 ENSE00002408800 005 3 69299143 69299312 - 51 57 62 G A 69299172 2030 141 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTTTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250020 69250021 69250021 downstr_intron 22 1.44 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTTTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 884 894 0.9868165 0.9955333 0.9911749 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.004972807 0.03488709 0.9879477 0.971245 NA 0.01992995 NA FALSE NA 0.019 0.438 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 6/7 1 NA AGA G,A 8.275e-06 3:69250021 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 intron_variant 0.751679 0.23337 0.06282 0.095506 0.8261852 0.129101 0.8070137 FALSE 4.06696e-06 ENSE00002408800_006 ENSE00002408800 006 3 69299143 69299312 - 51 57 62 C A 69299185 2031 128 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTTGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250033 69250034 69250034 downstr_intron 9 1.18 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTTGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 1280 5976 0.9956344 0.919576 0.9576052 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01379071 -0.04107021 0.9879477 0.971245 NA -0.01363975 NA FALSE NA 0 -0.237 rs73099842 intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 6/7 rs73099842 1 A:0.0317 A:0.0053 A:0.0778 NA A:0 A:0.0905 A:0.0072 A:0.0163 A:0.0976 CCA C,A 0.062 3:69250034 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 intron_variant 0.196574 0.14822 0.00232 0.095506 0.6949758 0.138275 0.8070137 FALSE 0.063433 ENSE00002408800_007 ENSE00002408800 007 3 69299143 69299312 - 51 57 62 T C 69299195 2032 118 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACGGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250043 69250044 69250044 exon -2 0.9824561 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACGGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 3135 2774 0.9980853 0.970761 0.9844231 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01624157 0.01011474 0.9879477 0.971245 NA 0.01317815 NA FALSE NA 1 4.762 . missense_variant&splice_region_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 1 tolerated(0.07) probably_damaging(0.996) NA CTG T,C 8.275e-06 3:69250044 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 4.12523 0.94438 0.8733 0.706548 0.9975456 0 0.8070137 FALSE 1.21882e-05 ENSE00002408800_009 ENSE00002408800 009 3 69299143 69299312 - 51 57 62 C T 69299206 2034 107 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCATTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250054 69250055 69250055 exon -13 0.7894737 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCATTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 1044 1330 0.9983416 0.9998811 0.9991114 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01649795 0.03923483 0.9879477 0.971245 NA 0.02786639 NA FALSE NA 0.068 -1.186 . synonymous_variant LOW FRMD4B HGNC 24886 ENST00000473029 6/8 1 NA ACG C,T 1.655e-05 3:69250055 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 synonymous_variant 2.435908 0.2715 0.04664 0.706548 0.5116133 0 0.8070137 FALSE 2.4374e-05 ENSE00002408800_010 ENSE00002408800 010 3 69299143 69299312 - 51 57 62 G A 69299207 2035 106 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGTGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250055 69250056 69250056 exon -14 0.7719298 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGTGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 907 2731 0.9626403 0.9944696 0.9785549 0.989059 0.9868363 0.9818437 0.9606462 NA NA -0.01920342 0.03382333 0.9879477 0.971245 NA 0.007309957 NA FALSE NA 0.999 4.258 . missense_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 1 deleterious(0.02) probably_damaging(0.998) NA CGC G,A 8.275e-06 3:69250056 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 6.92603 0.9521 0.89422 0.706548 0.999061 0 0.8070137 FALSE NA ENSE00002408800_011 ENSE00002408800 011 3 69299143 69299312 - 51 57 62 T G 69299209 2036 104 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCCGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250057 69250058 69250058 exon -16 0.7368421 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCCGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 649 715 1 0.9990288 0.9995144 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01815631 0.03838257 0.9879477 0.971245 NA 0.02826944 NA FALSE NA 0 -4.253 . synonymous_variant LOW FRMD4B HGNC 24886 ENST00000473029 6/8 1 NA CTG T,G 5.792e-05 3:69250058 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 synonymous_variant 0.677172 0.65229 0.04797 0.706548 0.5075598 0 0.8070137 FALSE 3.24944e-05 ENSE00002408800_012 ENSE00002408800 012 3 69299143 69299312 - 51 57 62 A C 69299214 2037 99 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGGTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250062 69250063 69250063 exon -21 0.6491228 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGGTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 193 122 1 0.9987014 0.9993507 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01815631 0.03805521 0.9879477 0.971245 NA 0.02810576 NA FALSE NA 1 2.315 . missense_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 rs375789053 1 deleterious(0.05) probably_damaging(0.999) NA C:0.0003 C:0 AAC A,C 8.274e-06 3:69250063 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 5.538031 0.96455 0.88941 0.706548 0.9977562 0 0.8070137 FALSE 4.06177e-06 ENSE00002408800_013 ENSE00002408800 013 3 69299143 69299312 - 51 57 62 T G 69299216 2038 97 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCACGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250064 69250065 69250065 exon -23 0.6140351 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCACGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 511 1006 0.8717505 0.9998428 0.9357966 0.989059 0.9868363 0.9818437 0.9606462 NA NA -0.1100932 0.03919652 0.9879477 0.971245 NA -0.03544832 NA FALSE NA 1 1.159 . missense_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 1 tolerated(0.11) benign(0.292) NA CTT T,G 8.274e-06 3:69250065 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 2.891887 0.93591 0.79505 0.706548 0.9881118 0 0.8070137 FALSE 8.12354e-06 ENSE00002408800_014 ENSE00002408800 014 3 69299143 69299312 - 51 57 62 G A 69299225 2039 88 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAATCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250073 69250074 69250074 exon 26 0.4561404 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAATCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 706 3180 0.996221 0.9978379 0.9970294 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01437732 0.03719163 0.9879477 0.971245 NA 0.02578448 NA FALSE NA 1 5.868 . missense_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 1 deleterious(0.03) probably_damaging(0.999) NA GGT G,A 8.275e-06 3:69250074 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 5.182359 0.96508 0.93424 0.719381 0.9912951 0 0.8070137 FALSE 4.06151e-06 ENSE00002408800_015 ENSE00002408800 015 3 69299143 69299312 - 51 57 62 T G 69299226 2040 87 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAACCCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250074 69250075 69250075 exon 25 0.4385965 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAACCCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 644 425 0.9998081 0.9945356 0.9971719 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01796444 0.0338894 0.9879477 0.971245 NA 0.02592692 NA FALSE NA 1 4.762 . missense_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 rs370319827 1 deleterious(0.01) probably_damaging(0.999) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 GTT T,G 2.482e-05 3:69250075 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 4.906482 0.96079 0.92016 0.719381 0.9956316 0 0.8070137 FALSE 2.03072e-05 ENSE00002408800_016 ENSE00002408800 016 3 69299143 69299312 - 51 57 62 C T 69299229 2041 84 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCAAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250077 69250078 69250078 exon 22 0.3859649 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCAAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 2484 971 0.9999669 0.9942752 0.997121 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01812317 0.03362894 0.9879477 0.971245 NA 0.02587605 NA FALSE NA 0.999 4.638 . missense_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 rs199692961 1 deleterious(0.01) probably_damaging(0.998) T:0.0006 T:0 T:0 NA T:0 T:0.001 T:0.002 T:0 T:0.0001 TCG C,T 0.0002317 3:69250078 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 7.48191 0.96378 0.91506 0.719381 0.999248 0 0.8070137 FALSE 0.000288369 ENSE00002408800_017 ENSE00002408800 017 3 69299143 69299312 - 51 57 62 G T 69299230 2042 83 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGAGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250078 69250079 69250079 exon 21 0.3684211 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGAGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 2049 808 0.9992254 0.9998042 0.9995148 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01738168 0.03915797 0.9879477 0.971245 NA 0.02826982 NA FALSE NA 0.319 -0.649 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:69250079 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 4.117227 0.564 0.29606 0.719381 0.9926401 0 0.8070137 FALSE 1.21844e-05 ENSE00002408800_018 ENSE00002408800 018 3 69299143 69299312 - 51 57 62 G A 69299230 2043 83 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGTGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250078 69250079 69250079 exon 21 0.3684211 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGTGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 1717 91 0.9985689 0.9991592 0.9988641 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01672523 0.03851293 0.9879477 0.971245 NA 0.02761908 NA FALSE NA 0.319 -0.649 NA NA NA FRMD4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4B NA NA NA ENSG00000114541 ENSE00003620942 synonymous_variant 1.506144 0.53052 0.07005 0.719381 0.6562183 0 0.8070137 FALSE 1.62459e-05 ENSE00002408800_019 ENSE00002408800 019 3 69299143 69299312 - 51 57 62 C G 69299233 2044 80 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGACAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250081 69250082 69250082 exon 18 0.3157895 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGACAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 1132 399 0.9974612 1 0.9987306 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01561746 0.03935376 0.9879477 0.971245 NA 0.02748561 NA FALSE NA 1 1.131 rs4361282 missense_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 rs4361282&COSM3760224&COSM3760223 1 tolerated(1) benign(0.001) G:0.2470 G:0.3457 G:0.2133 NA G:0.2649 G:0.2237 G:0.1431 G:0.3021 G:0.2195 TCT G,G 0.226 3:69250082 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 1.651054 0.91594 0.04713 0.719381 0.2237938 0 0.8070137 FALSE 0.225674 ENSE00002408800_020 ENSE00002408800 020 3 69299143 69299312 - 51 57 62 C T 69299241 2045 72 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCAAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250089 69250090 69250090 exon 10 0.1754386 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCAAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 43 1639 1 0.9985382 0.9992691 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01815631 0.03789193 0.9879477 0.971245 NA 0.02802412 NA FALSE NA 0.998 4.631 . missense_variant MODERATE FRMD4B HGNC 24886 ENST00000473029 6/8 rs372038838 1 deleterious(0.01) probably_damaging(0.996) NA T:0 T:0.0001 TCG C,T 1.655e-05 3:69250090 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 missense_variant 7.313626 0.96403 0.91249 0.719381 0.9990986 0 0.8070137 FALSE 2.03067e-05 ENSE00002408800_021 ENSE00002408800 021 3 69299143 69299312 - 51 57 62 C T 69299248 2046 65 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGACAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250096 69250097 69250097 exon 3 0.05263158 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGACAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 382 1139 0.9998922 0.9973505 0.9986214 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01804853 0.03670425 0.9879477 0.971245 NA 0.02737639 NA FALSE NA 0.234 -0.532 . splice_region_variant&synonymous_variant LOW FRMD4B HGNC 24886 ENST00000473029 6/8 1 NA GCC C,T 8.275e-06 3:69250097 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 splice_region_variant 1.692989 0.81697 0.28337 0.719381 0.8259544 0 0.8070137 FALSE 4.06134e-06 ENSE00002408800_022 ENSE00002408800 022 3 69299143 69299312 - 51 57 62 T C 69299252 2047 61 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACGGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250100 69250101 69250101 upstr_intron -2 -0.01612903 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACGGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 814 3219 0.009476248 0.007510484 0.008493366 0.989059 0.9868363 0.9818437 0.9606462 NA NA -0.9723674 -0.9531358 0.9879477 0.971245 NA -0.9627516 NA TRUE NA 1 4.691 . splice_acceptor_variant HIGH FRMD4B HGNC 24886 ENST00000473029 5/7 1 NA HC CTG T,C 8.275e-06 3:69250101 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 splice_acceptor_variant 4.719114 0.95971 0.91057 0.093477 0.9925205 0.973849 0.8070137 FALSE 4.06128e-06 ENSE00002408800_023 ENSE00002408800 023 3 69299143 69299312 - 51 57 62 T A 69299258 2048 55 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCTTCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250106 69250107 69250107 upstr_intron -8 -0.1129032 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCTTCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 900 196 0.9965769 0.9989966 0.9977868 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01473324 0.0383504 0.9879477 0.971245 NA 0.02654182 NA FALSE NA 0 -0.987 . splice_region_variant&intron_variant LOW FRMD4B HGNC 24886 ENST00000473029 5/7 1 NA ATG T,A 1.655e-05 3:69250107 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 splice_region_variant 1.259758 0.24494 0.052 0.091178 0.7783202 0.48773 0.8070137 FALSE 8.12262e-06 ENSE00002408800_024 ENSE00002408800 024 3 69299143 69299312 - 51 57 62 G T 69299266 2049 47 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTACTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250114 69250115 69250115 upstr_intron -16 -0.2419355 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTACTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 49 1258 1 0.9973507 0.9986753 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01815631 0.03670445 0.9879477 0.971245 NA 0.02743038 NA FALSE NA 1 0.562 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 5/7 rs375326290 1 NA T:0.0003 T:0 GGA G,T 8.273e-06 3:69250115 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 non_coding_transcript_exon_variant 1.909612 0.88675 0.68117 0.091178 0.8410364 0.559986 0.8070137 FALSE 4.06134e-06 ENSE00002408800_025 ENSE00002408800 025 3 69299143 69299312 - 51 57 62 G A 69299270 2050 43 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGTTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250118 69250119 69250119 upstr_intron -20 -0.3064516 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGTTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 1018 1346 0.9986424 0.9999434 0.9992929 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01679875 0.03929719 0.9879477 0.971245 NA 0.02804797 NA FALSE NA 0.977 1.125 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 5/7 rs368590313 1 NA A:0.0003 A:0 AGC G,A 8.274e-06 3:69250119 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 non_coding_transcript_exon_variant 2.305491 0.91227 0.12085 0.091178 0.8334511 0.601312 0.8070137 FALSE NA ENSE00002408800_026 ENSE00002408800 026 3 69299143 69299312 - 51 57 62 A G 69299275 2051 38 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAACGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250123 69250124 69250124 upstr_intron -25 -0.3870968 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAACGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 469 753 0.8812464 0.9942908 0.9377686 0.989059 0.9868363 0.9818437 0.9606462 NA NA -0.1005973 0.03364457 0.9879477 0.971245 NA -0.03347638 NA FALSE NA 0.994 1.609 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 5/7 1 NA CAT A,G 8.273e-06 3:69250124 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 non_coding_transcript_exon_variant 2.169164 0.93589 0.74607 0.091178 0.7428929 0.519891 0.8070137 FALSE 4.06134e-06 ENSE00002408800_027 ENSE00002408800 027 3 69299143 69299312 - 51 57 62 G A 69299278 2052 35 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTTAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250126 69250127 69250127 upstr_intron -28 -0.4354839 AGCCATTTGCTACAATCTAGGACAGCCCCATGTTTAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 325 1654 0.9971805 0.9996738 0.9984271 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01533678 0.03902754 0.9879477 0.971245 NA 0.02718216 NA FALSE NA 0.999 0.938 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 5/7 1 NA TGA G,A 8.273e-06 3:69250127 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 non_coding_transcript_exon_variant 2.16789 0.94717 0.32523 0.091178 0.7735301 0.979621 0.8070137 FALSE 4.06151e-06 ENSE00002408800_028 ENSE00002408800 028 3 69299143 69299312 - 51 57 62 G A 69299285 2053 28 AGCCATTTGCTACAATCTAGGACAGCCTCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250133 69250134 69250134 upstr_intron -35 -0.5483871 AGCCATTTGCTACAATCTAGGACAGCCTCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 656 1188 0.9974827 0.995748 0.9966153 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01563896 0.03510179 0.9879477 0.971245 NA 0.02537038 NA FALSE NA 0 0.109 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 5/7 rs201499608 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0004 GGG G,A 8.273e-05 3:69250134 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 non_coding_transcript_exon_variant 1.17822 0.2882 0.04578 0 0.7619846 0.40662 0.8070137 FALSE 0.000105622 ENSE00002408800_030 ENSE00002408800 030 3 69299143 69299312 - 51 57 62 C A 69299292 2055 21 AGCCATTTGCTACAATCTAGTACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250140 69250141 69250141 upstr_intron -42 -0.6612903 AGCCATTTGCTACAATCTAGTACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 786 1175 0.9963482 0.9870397 0.9916939 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01450446 0.02639347 0.9879477 0.971245 NA 0.02044897 NA FALSE NA 0 0.07 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 5/7 1 NA TCC C,A 2.482e-05 3:69250141 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 non_coding_transcript_exon_variant 1.585177 0.33863 0.07099 0 0.6862602 0.328365 0.8070137 FALSE 1.22101e-05 ENSE00002408800_031 ENSE00002408800 031 3 69299143 69299312 - 51 57 62 C T 69299293 2056 20 AGCCATTTGCTACAATCTAAGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250141 69250142 69250142 upstr_intron -43 -0.6774194 AGCCATTTGCTACAATCTAAGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 119 590 1 0.9521139 0.976057 0.989059 0.9868363 0.9818437 0.9606462 NA NA 0.01815631 -0.008532327 0.9879477 0.971245 NA 0.00481199 NA FALSE NA 0 0.576 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 5/7 1 NA CCT C,T 8.272e-05 3:69250142 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 non_coding_transcript_exon_variant 1.448893 0.33737 0.11842 0 0.7139521 0.328239 0.8070137 FALSE 5.69912e-05 ENSE00002408800_032 ENSE00002408800 032 3 69299143 69299312 - 51 57 62 T C 69299301 2057 12 AGCCATTTGCTGCAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 69250149 69250150 69250150 upstr_intron -51 -0.8064516 AGCCATTTGCTGCAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT mutant NA NA NA NA NA 1614 422 0.9520024 0.999625 0.9758137 0.989059 0.9868363 0.9818437 0.9606462 NA NA -0.02984133 0.0389788 0.9879477 0.971245 NA 0.004568736 NA FALSE NA 0.001 -1.151 . intron_variant MODIFIER FRMD4B HGNC 24886 ENST00000473029 5/7 rs376540849 1 NA C:0.0004 C:0 GTA T,C 1.654e-05 3:69250150 FRMD4B HGNC Symbol protein_coding 372593 ENSG00000114541 ENSE00003620942 non_coding_transcript_exon_variant 1.086799 0.28472 0.02937 0 0.5066299 0.390234 0.8070137 FALSE 1.22313e-05 ENSE00002408800_BRK ENSE00002408800 BRK 3 69299143 69299312 - 51 57 62 A,G; T,T NA NA NA AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACTTGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGCCAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT 69249991 69250161 NA NA NA NA NA NA AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACTTGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGCCAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT AGCCATTTGCTACAATCTAGGACAGCCCCATGTTCAATGATGCTTTCCTTTTCCATCAACAGGGGCAAATCGAAGTAGAGAGCGAAACCATCTTCAAGTTAGCAGCGTTTATTTTACAGGTAAGATTGGACAAACTGCCTCTTAGCAGCTCCCTTGTGTTTGTTCGTTTT control 214 56 0 0 0 82 234 0.2081473 0.06431207 0.1362297 0.989059 0.9868363 0.9818437 0.9606462 -0.989059 -0.9868363 -0.7736964 -0.8963342 0.9879477 0.971245 -0.9879477 -0.8350153 0.1529324 TRUE TRUE NA NA NA NA NA FRMD4B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FRMD4B NA NA NA ENSG00000114541 ENSE00003620942 NA NA NA NA NA NA NA 0.8070137 FALSE NA ENSE00002409041_000 ENSE00002409041 000 6 168343752 168343921 + 57 66 47 NA NA NA NA NA AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 NA NA NA NA NA NA AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC natural 403 669 0.8390418 0.831821 0.8354314 4314 6854 0.9484958 0.827473 0.8879844 0.8390418 0.831821 0.9484958 0.827473 0 0 0 0 0.8354314 0.8879844 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFDN NA NA NA ENSG00000130396 ENSE00003494202 NA NA NA NA NA NA NA NA NA NA ENSE00002409041_001 ENSE00002409041 001 6 168343752 168343921 + 57 66 47 A C 168343767 2833 16 AGTGCATTTCTTACACTATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943086 167943087 167943087 upstr_intron -42 -0.7192982 AGTGCATTTCTTACACTATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 550 140 0.8589892 0.8001379 0.8295636 0.8390418 0.831821 0.9484958 0.827473 NA NA -0.08950656 -0.02733506 0.8354314 0.8879844 NA -0.05842081 NA FALSE NA 0 -0.315 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:167943087 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 intron_variant -0.230179 0.12597 0.04016 0.099367 0.5630252 0.0666035 NA NA 2.10784e-05 ENSE00002409041_002 ENSE00002409041 002 6 168343752 168343921 + 57 66 47 A G 168343767 2834 16 AGTGCATTTCTTACAGTATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943086 167943087 167943087 upstr_intron -42 -0.7192982 AGTGCATTTCTTACAGTATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 1401 1483 0.9403336 0.9494744 0.944904 0.8390418 0.831821 0.9484958 0.827473 NA NA -0.00816222 0.1220015 0.8354314 0.8879844 NA 0.05691962 NA FALSE NA 0 -0.315 NA NA NA MLLT4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AFDN NA NA NA ENSG00000130396 ENSE00003494202 intron_variant -0.033175 0.10931 0.01319 0.099367 0.5296224 0.0666035 NA NA 4.21567e-06 ENSE00002409041_006 ENSE00002409041 006 6 168343752 168343921 + 57 66 47 G T 168343785 2838 34 AGTGCATTTCTTACAATATATCTTCAATGCAGTTTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943104 167943105 167943105 upstr_intron -24 -0.4035088 AGTGCATTTCTTACAATATATCTTCAATGCAGTTTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 265 955 0.9829023 0.9738499 0.9783761 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.03440647 0.146377 0.8354314 0.8879844 NA 0.09039172 NA FALSE NA 0 0.283 . intron_variant MODIFIER MLLT4 HGNC 7137 ENST00000351017 23/33 1 NA TGT G,T 8.236e-06 6:167943105 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 intron_variant -0.31837 0.2082 0.14472 0.162113 0.6021282 0.113063 NA NA 2.05229e-05 ENSE00002409041_008 ENSE00002409041 008 6 168343752 168343921 + 57 66 47 G T 168343796 2840 45 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTTTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943115 167943116 167943116 upstr_intron -13 -0.2105263 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTTTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 964 227 0.9956512 0.9944482 0.9950497 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.04715538 0.1669753 0.8354314 0.8879844 NA 0.1070653 NA FALSE NA 0 -1.801 . intron_variant MODIFIER MLLT4 HGNC 7137 ENST00000351017 23/33 1 NA TGT G,T 9.06e-05 6:167943116 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 intron_variant -0.385306 0.13506 0.04704 0.162113 0.4085639 0.230462 NA NA 9.0023e-05 ENSE00002409041_010 ENSE00002409041 010 6 168343752 168343921 + 57 66 47 G T 168343802 2842 51 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTTCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943121 167943122 167943122 upstr_intron -7 -0.1052632 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTTCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 460 158 0.9855249 0.9987546 0.9921398 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.03702907 0.1712817 0.8354314 0.8879844 NA 0.1041554 NA FALSE NA 0 -0.383 NA NA NA MLLT4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:167943122 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 splice_region_variant -0.376169 0.14728 0.07091 0.156188 0.4141314 0.246058 NA NA 0 ENSE00002409041_011 ENSE00002409041 011 6 168343752 168343921 + 57 66 47 A C 168343804 2843 53 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCCATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943123 167943124 167943124 upstr_intron -5 -0.07017544 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCCATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 1928 481 0.9342431 0.9961859 0.9652145 0.8390418 0.831821 0.9484958 0.827473 NA NA -0.01425264 0.168713 0.8354314 0.8879844 NA 0.07723017 NA FALSE NA 0 0.241 . splice_region_variant&intron_variant LOW MLLT4 HGNC 7137 ENST00000351017 23/33 1 NA CAA A,C 1.647e-05 6:167943124 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 splice_region_variant -0.229175 0.19991 0.44031 0.156188 0.5967571 0.234331 NA NA 8.15488e-06 ENSE00002409041_012 ENSE00002409041 012 6 168343752 168343921 + 57 66 47 T C 168343806 2844 55 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAACAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943125 167943126 167943126 upstr_intron -3 -0.03508772 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAACAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 1708 449 0.7727644 0.9682653 0.8705149 0.8390418 0.831821 0.9484958 0.827473 NA NA -0.1757314 0.1407924 0.8354314 0.8879844 NA -0.01746951 NA FALSE NA 0.002 -0.514 . splice_region_variant&intron_variant LOW MLLT4 HGNC 7137 ENST00000351017 23/33 1 NA ATA T,C 8.236e-06 6:167943126 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 splice_region_variant 1.071545 0.19733 0.01669 0.156188 0.70747 0.38798 NA NA 4.07133e-06 ENSE00002409041_014 ENSE00002409041 014 6 168343752 168343921 + 57 66 47 A G 168343829 2846 78 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTGGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943148 167943149 167943149 exon 21 0.3181818 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTGGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 779 2426 0.9947161 0.997449 0.9960825 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.04622031 0.169976 0.8354314 0.8879844 NA 0.1080982 NA FALSE NA 0.329 -0.582 . synonymous_variant LOW MLLT4 HGNC 7137 ENST00000351017 24/34 1 NA TAG A,G 8.236e-06 6:167943149 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 synonymous_variant 0.532433 0.94477 0.21128 0.706548 0.7180013 0 NA NA 4.06564e-06 ENSE00002409041_015 ENSE00002409041 015 6 168343752 168343921 + 57 66 47 T C 168343838 2847 87 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTACGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943157 167943158 167943158 exon 30 0.4545455 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTACGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 586 1243 0.9940003 0.7947706 0.8943854 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.0455045 -0.03270238 0.8354314 0.8879844 NA 0.006401059 NA FALSE NA 0.034 -0.763 rs1132306 synonymous_variant LOW MLLT4 HGNC 7137 ENST00000351017 24/34 rs1132306 1 T:0.4437 C:0.4138 C:0.5605 NA C:0.7927 C:0.4066 C:0.6564 C:0.4181 C:0.4252 ATG T,C 0.504 6:167943158 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 synonymous_variant -0.200211 0.94586 0.08291 0.706548 0.3561676 0 NA NA 0.510374 ENSE00002409041_019 ENSE00002409041 019 6 168343752 168343921 + 57 66 47 A G 168343884 2851 133 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCGTTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943203 167943204 167943204 downstr_intron 10 1.217391 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCGTTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 473 379 0.9158423 0.9385199 0.9271811 0.8390418 0.831821 0.9484958 0.827473 NA NA -0.03265351 0.1110469 0.8354314 0.8879844 NA 0.03919671 NA FALSE NA 0 -2.736 . intron_variant MODIFIER MLLT4 HGNC 7137 ENST00000351017 24/33 1 NA CAT A,G 1.647e-05 6:167943204 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 intron_variant 1.503024 0.14138 0.01709 0.099367 0.7960046 0.375978 NA NA 2.4666e-05 ENSE00002409041_020 ENSE00002409041 020 6 168343752 168343921 + 57 66 47 G C 168343889 2852 138 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTCAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943208 167943209 167943209 downstr_intron 15 1.326087 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTCAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 347 39 0.9571664 0.9030354 0.9301009 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.008670595 0.07556241 0.8354314 0.8879844 NA 0.0421165 NA FALSE NA 0 -0.19 . intron_variant MODIFIER MLLT4 HGNC 7137 ENST00000351017 24/33 1 NA TGA G,C 1.647e-05 6:167943209 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 intron_variant 0.66712 0.15577 0.11162 0.099367 0.6925821 0.214861 NA NA 1.23891e-05 ENSE00002409041_021 ENSE00002409041 021 6 168343752 168343921 + 57 66 47 A G 168343895 2853 144 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAGGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 167943214 167943215 167943215 downstr_intron 21 1.456522 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAGGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 631 157 0.9999348 0.9823916 0.9911632 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.05143897 0.1549187 0.8354314 0.8879844 NA 0.1031788 NA FALSE NA 0 -0.778 . intron_variant MODIFIER MLLT4 HGNC 7137 ENST00000351017 24/33 1 NA AAG A,G 8.237e-06 6:167943215 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 intron_variant 1.033095 0.15631 0.04775 0.099367 0.7614318 0.290061 NA NA 4.1308e-06 ENSE00002409041_022 ENSE00002409041 022 6 168343752 168343921 + 57 66 47 T A 168343901 2854 150 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACAATTTCAGTGTGTCATATATTC 167943071 167943241 167943220 167943221 167943221 downstr_intron 27 1.586957 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACAATTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 1371 1184 0.9537941 0.9501812 0.9519877 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.005298323 0.1227083 0.8354314 0.8879844 NA 0.0640033 NA FALSE NA 0 -0.849 . intron_variant MODIFIER MLLT4 HGNC 7137 ENST00000351017 24/33 1 NA ATT T,A 1.647e-05 6:167943221 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 intron_variant -0.054081 0.07075 0.01342 0.099367 0.4271738 0.0977633 NA NA 8.24531e-06 ENSE00002409041_023 ENSE00002409041 023 6 168343752 168343921 + 57 66 47 G A 168343909 2855 158 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTATGTCATATATTC 167943071 167943241 167943228 167943229 167943229 downstr_intron 35 1.76087 AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTATGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC mutant NA NA NA NA NA 196 904 0.9557687 0.9167081 0.9362384 0.8390418 0.831821 0.9484958 0.827473 NA NA 0.007272887 0.08923515 0.8354314 0.8879844 NA 0.04825402 NA FALSE NA 0 -0.985 . intron_variant MODIFIER MLLT4 HGNC 7137 ENST00000351017 24/33 1 NA TGT G,A 8.237e-06 6:167943229 AFDN HGNC Symbol protein_coding 145101 ENSG00000130396 ENSE00003494202 intron_variant -0.059844 0.09146 0.01997 0.099367 0.5007057 0.14856 NA NA 4.13568e-06 ENSE00002409041_BRK ENSE00002409041 BRK 6 168343752 168343921 + 57 66 47 A,G; T,T NA NA NA AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATTTGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGCCCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC 167943071 167943241 NA NA NA NA NA NA AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATTTGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGCCCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC AGTGCATTTCTTACAATATATCTTCAATGCAGTGTTTTCGCCTTGTTTTTGCAATAGGGTGCTGGTCAAGATAAACTAGGAATCTATGTGAAGTCGGTTGTGAAAGGAGGTGCTGCAGATGTGGTCAGTATCATTTTGAAAGAAGTACATTTTCAGTGTGTCATATATTC control 46 31 0 0 0 474 940 0 0.006193088 0.003096544 0.8390418 0.831821 0.9484958 0.827473 -0.8390418 -0.831821 -0.9484958 -0.8212799 0.8354314 0.8879844 -0.8354314 -0.8848878 0.0494564 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003494202 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002409191_000 ENSE00002409191 000 2 152553121 152553290 - 30 99 41 NA NA NA NA NA TGGGTGTCCTGAGTAGTTAGAGGAACTTACGTCACTCAGTTGTTTGGAATTGACTTGGGCTTGTAGCAGAACAGGAGAGTCTGTAACTTGGGTGAATTTTGTCTTATCTGGATGGACTTTGTAGGTGTGCTGTGGGGAAGCAAAGGCATTTGGTTTAGTAGTATCACCTG 151696606 151696776 NA NA NA NA NA NA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA natural 124 199 0.85 0.85 0.85 3636 961 0.7412883 0.8137643 0.7775263 0.85 0.85 0.7412883 0.8137643 0 0 0 0 0.85 0.7775263 0 0 0 FALSE FALSE NA NA NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00003652644 NA NA NA NA NA NA NA 4.081031e-17 FALSE NA ENSE00002409191_011 ENSE00002409191 011 2 152553121 152553290 - 30 99 41 T C 152553170 2933 121 TGGGTGTCCTGAGTAGTTAGAGGAACTTACGTCACTCAGTTGTTTGGAACTGACTTGGGCTTGTAGCAGAACAGGAGAGTCTGTAACTTGGGTGAATTTTGTCTTATCTGGATGGACTTTGTAGGTGTGCTGTGGGGAAGCAAAGGCATTTGGTTTAGTAGTATCACCTG 151696606 151696776 151696655 151696656 151696656 exon -20 0.8080808 CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAGTTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA mutant NA NA NA NA NA 201 946 0.003001685 0.007887939 0.005444812 0.85 0.85 0.7412883 0.8137643 NA NA -0.7382866 -0.8058764 0.85 0.7775263 NA -0.7720815 NA TRUE NA 1 6.9 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 15/180 rs199710125 1 probably_damaging(0.995) NA C:0 C:0.0001 ATT T,C 9.931e-05 2:151696656 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003652644 missense_variant 3.252897 0.98984 0.98411 0.487112 0.9986637 0 4.081031e-17 FALSE 0.000105598 ENSE00002409191_012 ENSE00002409191 012 2 152553121 152553290 - 30 99 41 G C 152553172 2934 119 TGGGTGTCCTGAGTAGTTAGAGGAACTTACGTCACTCAGTTGTTTGGAATTCACTTGGGCTTGTAGCAGAACAGGAGAGTCTGTAACTTGGGTGAATTTTGTCTTATCTGGATGGACTTTGTAGGTGTGCTGTGGGGAAGCAAAGGCATTTGGTTTAGTAGTATCACCTG 151696606 151696776 151696657 151696658 151696658 exon -22 0.7878788 CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTGAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA mutant NA NA NA NA NA 93 95 0.95 0.971329 0.9606645 0.85 0.85 0.7412883 0.8137643 NA NA 0.2087117 0.1575646 0.85 0.7775263 NA 0.1831382 NA FALSE NA 1 2.428 . synonymous_variant LOW NEB HGNC 7720 ENST00000603639 15/180 rs200489965 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TGA G,C 8.276e-06 2:151696658 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003652644 synonymous_variant 0.893086 0.97489 0.94706 0.487112 0.7380431 0 4.081031e-17 FALSE 4.06144e-06 ENSE00002409191_015 ENSE00002409191 015 2 152553121 152553290 - 30 99 41 T C 152553176 2937 115 TGGGTGTCCTGAGTAGTTAGAGGAACTTACGTCACTCAGTTGTTTGGAATTGACTCGGGCTTGTAGCAGAACAGGAGAGTCTGTAACTTGGGTGAATTTTGTCTTATCTGGATGGACTTTGTAGGTGTGCTGTGGGGAAGCAAAGGCATTTGGTTTAGTAGTATCACCTG 151696606 151696776 151696661 151696662 151696662 exon -26 0.7474747 CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCGAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA mutant NA NA NA NA NA 550 271 0.8 0.8185813 0.8092906 0.85 0.85 0.7412883 0.8137643 NA NA 0.05871167 0.004816968 0.85 0.7775263 NA 0.03176432 NA FALSE NA 1 5.108 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 15/180 rs368150737 1 probably_damaging(0.992) NA C:0.0003 C:0 TTG T,C 7.449e-05 2:151696662 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003652644 missense_variant 2.865728 0.97401 0.91527 0.487112 0.9982371 0 4.081031e-17 FALSE 5.27992e-05 ENSE00002409191_017 ENSE00002409191 017 2 152553121 152553290 - 30 99 41 C A 152553192 2939 99 TGGGTGTCCTGAGTAGTTAGAGGAACTTACGTCACTCAGTTGTTTGGAATTGACTTGGGCTTGTAGCAGAAAAGGAGAGTCTGTAACTTGGGTGAATTTTGTCTTATCTGGATGGACTTTGTAGGTGTGCTGTGGGGAAGCAAAGGCATTTGGTTTAGTAGTATCACCTG 151696606 151696776 151696677 151696678 151696678 exon -42 0.5858586 CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTTTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA mutant NA NA NA NA NA 73 1144 0 0 0 0.85 0.85 0.7412883 0.8137643 NA NA -0.7412883 -0.8137643 0.85 0.7775263 NA -0.7775263 NA TRUE NA 1 2.464 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 15/180 COSM476035&COSM476034&COSM1645775 1 possibly_damaging(0.802) NA ACA C,A 8.276e-06 2:151696678 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003652644 missense_variant 5.008514 0.98221 0.91009 0.487112 0.9947071 0 4.081031e-17 FALSE 1.62452e-05 ENSE00002409191_022 ENSE00002409191 022 2 152553121 152553290 - 30 99 41 T G 152553238 2944 53 TGGGTGTCCTGAGTAGTTAGAGGAACTTACGTCACTCAGTTGTTTGGAATTGACTTGGGCTTGTAGCAGAACAGGAGAGTCTGTAACTTGGGTGAATTTTGTCTTATCTGGATGGACGTTGTAGGTGTGCTGTGGGGAAGCAAAGGCATTTGGTTTAGTAGTATCACCTG 151696606 151696776 151696723 151696724 151696724 exon 12 0.1212121 CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAACGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA mutant NA NA NA NA NA 38 535 1 0.9956282 0.9978141 0.85 0.85 0.7412883 0.8137643 NA NA 0.2587117 0.1818639 0.85 0.7775263 NA 0.2202878 NA FALSE NA 1 2.61 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 15/180 1 probably_damaging(0.999) NA CTT T,G 8.276e-06 2:151696724 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003652644 missense_variant 5.189941 0.97978 0.96717 0.487112 0.9983949 0 4.081031e-17 FALSE 1.62536e-05 ENSE00002409191_024 ENSE00002409191 024 2 152553121 152553290 - 30 99 41 G C 152553247 2946 44 TGGGTGTCCTGAGTAGTTAGAGGAACTTACGTCACTCAGTTGTTTGGAATTGACTTGGGCTTGTAGCAGAACAGGAGAGTCTGTAACTTGGGTGAATTTTGTCTTATCTGGATGGACTTTGTAGGTCTGCTGTGGGGAAGCAAAGGCATTTGGTTTAGTAGTATCACCTG 151696606 151696776 151696732 151696733 151696733 exon 3 0.03030303 CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCAGACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA mutant NA NA NA NA NA 380 56 0.9721486 0.8700012 0.9210749 0.85 0.85 0.7412883 0.8137643 NA NA 0.2308603 0.05623689 0.85 0.7775263 NA 0.1435486 NA FALSE NA 0.705 -0.191 . missense_variant&splice_region_variant MODERATE NEB HGNC 7720 ENST00000603639 15/180 1 benign(0.433) NA TGT G,C 8.275e-06 2:151696733 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003652644 missense_variant 1.4927 0.91661 0.5457 0.487112 0.9516957 0 4.081031e-17 FALSE 4.06491e-06 ENSE00002409191_025 ENSE00002409191 025 2 152553121 152553290 - 30 99 41 A C 152553264 2947 27 TGGGTGTCCTGAGTAGTTAGAGGAACTTACGTCACTCAGTTGTTTGGAATTGACTTGGGCTTGTAGCAGAACAGGAGAGTCTGTAACTTGGGTGAATTTTGTCTTATCTGGATGGACTTTGTAGGTGTGCTGTGGGGAAGCAACGGCATTTGGTTTAGTAGTATCACCTG 151696606 151696776 151696749 151696750 151696750 upstr_intron -15 -0.3414634 CAGGTGATACTACTAAACCAAATGCCGTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA CAGGTGATACTACTAAACCAAATGCCTTTGCTTCCCCACAGCACACCTACAAAGTCCATCCAGATAAGACAAAATTCACCCAAGTTACAGACTCTCCTGTTCTGCTACAAGCCCAAGTCAATTCCAAACAACTGAGTGACGTAAGTTCCTCTAACTACTCAGGACACCCA mutant NA NA NA NA NA 664 305 0.002724361 0 0.00136218 0.85 0.85 0.7412883 0.8137643 NA NA -0.738564 -0.8137643 0.85 0.7775263 NA -0.7761641 NA TRUE NA 0.001 0.231 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 14/179 1 NA AAG A,C 8.276e-06 2:151696750 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003652644 intron_variant -0.263281 0.21109 0.06869 0.053691 0.60438 0.0640786 4.081031e-17 FALSE NA ENSE00002409612_000 ENSE00002409612 000 2 189926235 189926404 - 53 54 63 NA NA NA NA NA CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 NA NA NA NA NA NA CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT natural NA NA NA NA NA 4016 7360 0.9873683 0.9837932 0.9855808 NA NA 0.9873683 0.9837932 NA NA 0 0 NA 0.9855808 NA 0 NA FALSE NA NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00003626834 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002409612_001 ENSE00002409612 001 2 189926235 189926404 - 53 54 63 A G 189926256 3766 149 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTCCCATTAACTAAAATGCTTTTT 189061508 189061678 189061529 189061530 189061530 downstr_intron 32 1.615385 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTCCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 1401 1573 0.9902297 0.9956453 0.9929375 NA NA 0.9873683 0.9837932 NA NA 0.002861388 0.01185204 NA 0.9855808 NA 0.007356717 NA FALSE NA 0 0.512 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 30/53 1 NA GAA A,G 8.236e-06 2:189061530 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 intron_variant 0.298369 0.15806 0.0544 0.088506 0.5912964 0.149847 1 TRUE NA ENSE00002409612_002 ENSE00002409612 002 2 189926235 189926404 - 53 54 63 G A 189926258 3767 147 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATTTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061531 189061532 189061532 downstr_intron 30 1.576923 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATTTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 130 2054 1 0.9965861 0.9982931 NA NA 0.9873683 0.9837932 NA NA 0.01263169 0.01279287 NA 0.9855808 NA 0.01271228 NA FALSE NA 0 0.201 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 30/53 1 NA AGA G,A 8.236e-06 2:189061532 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 intron_variant 0.319877 0.15547 0.03839 0.088506 0.5621455 0.149847 1 TRUE 8.1678e-06 ENSE00002409612_003 ENSE00002409612 003 2 189926235 189926404 - 53 54 63 T C 189926265 3768 140 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCGTTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061538 189061539 189061539 downstr_intron 23 1.442308 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCGTTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 1464 791 0.994347 0.9975015 0.9959243 NA NA 0.9873683 0.9837932 NA NA 0.006978716 0.01370827 NA 0.9855808 NA 0.01034349 NA FALSE NA 0 -1.071 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 30/53 rs200083444 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 ATG T,C 8.236e-06 2:189061539 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 intron_variant 0.185049 0.10606 0.02958 0.088506 0.5039191 0.149847 1 TRUE 4.0843e-06 ENSE00002409612_004 ENSE00002409612 004 2 189926235 189926404 - 53 54 63 G A 189926274 3769 131 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTTGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061547 189061548 189061548 downstr_intron 14 1.269231 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTTGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 1761 2621 0.9963464 0.9991849 0.9977657 NA NA 0.9873683 0.9837932 NA NA 0.008978108 0.0153917 NA 0.9855808 NA 0.0121849 NA FALSE NA 0 -0.131 . intron_variant MODIFIER COL5A2 HGNC 2210 ENST00000374866 30/53 1 NA CGA G,A 4.942e-05 2:189061548 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 intron_variant 0.187023 0.18403 0.02825 0.088506 0.4653127 0.247038 1 TRUE 3.25492e-05 ENSE00002409612_005 ENSE00002409612 005 2 189926235 189926404 - 53 54 63 T C 189926285 3770 120 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTGTGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061558 189061559 189061559 downstr_intron 3 1.057692 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTGTGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 677 3497 0.04122924 0.0145984 0.02791382 NA NA 0.9873683 0.9837932 NA NA -0.9461391 -0.9691948 NA 0.9855808 NA -0.957667 NA TRUE NA 0.985 1.29 . splice_region_variant&intron_variant LOW COL5A2 HGNC 2210 ENST00000374866 30/53 rs201947903 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 ATA T,C 4.942e-05 2:189061559 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 splice_region_variant 1.124219 0.9782 0.65282 0.106106 0.9209798 0.85794 1 TRUE 3.25306e-05 ENSE00002409612_006 ENSE00002409612 006 2 189926235 189926404 - 53 54 63 G A 189926308 3771 97 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTTCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061581 189061582 189061582 exon -21 0.6296296 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTTCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 323 396 1 1 1 NA NA 0.9873683 0.9837932 NA NA 0.01263169 0.01620676 NA 0.9855808 NA 0.01441923 NA FALSE NA 1 5.91 rs139189200 missense_variant MODERATE COL5A2 HGNC 2210 ENST00000374866 30/54 rs139189200 1 possibly_damaging(0.641) A:0.0010 A:0 A:0 NA A:0 A:0.005 A:0 A:0 A:0.0002 GGA G,A 0.001548 2:189061582 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 missense_variant 3.882289 0.98731 0.97888 0.732398 0.9800321 0 1 TRUE 0.00161824 ENSE00002409612_007 ENSE00002409612 007 2 189926235 189926404 - 53 54 63 T C 189926321 3772 84 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGGGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061594 189061595 189061595 exon 21 0.3888889 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGGGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 445 2012 0.9968126 0.9871866 0.9919996 NA NA 0.9873683 0.9837932 NA NA 0.00944431 0.003393356 NA 0.9855808 NA 0.006418833 NA FALSE NA 0.986 0.194 . synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 30/54 1 NA CTC T,C 8.236e-06 2:189061595 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 synonymous_variant 0.222453 0.96016 0.89497 0.732398 0.7036495 0 1 TRUE NA ENSE00002409612_008 ENSE00002409612 008 2 189926235 189926404 - 53 54 63 T C 189926324 3773 81 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGGGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061597 189061598 189061598 exon 18 0.3333333 CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGGGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 824 1112 0.9974247 0.9728115 0.9851181 NA NA 0.9873683 0.9837932 NA NA 0.01005638 -0.01098173 NA 0.9855808 NA -0.0004626721 NA FALSE NA 1 2.959 rs140541824 synonymous_variant LOW COL5A2 HGNC 2210 ENST00000374866 30/54 rs140541824 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTC T,C 1.647e-05 2:189061598 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 synonymous_variant 0.230683 0.9901 0.96677 0.732398 0.6975365 0 1 TRUE 1.21974e-05 ENSE00002409612_011 ENSE00002409612 011 2 189926235 189926404 - 53 54 63 T G 189926374 3776 31 CGTAGAGAGGAAGCAGACAAAGATCTGGTTCTATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061647 189061648 189061648 upstr_intron -33 -0.5079365 CGTAGAGAGGAAGCAGACAAAGATCTGGTTCTATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 875 1103 0.9907124 0.9756528 0.9831826 NA NA 0.9873683 0.9837932 NA NA 0.003344127 -0.008140472 NA 0.9855808 NA -0.002398173 NA FALSE NA 0 -1.591 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:189061648 COL5A2 HGNC Symbol protein_coding 147983 ENSG00000204262 ENSE00003626834 intron_variant 0.006985 0.17734 0.00943 0.088506 0.6039937 0.0946271 1 TRUE 2.85107e-05 ENSE00002409612_012 ENSE00002409612 012 2 189926235 189926404 - 53 54 63 T C 189926374 3777 31 CGTAGAGAGGAAGCAGACAAAGATCTGGTTGTATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 189061647 189061648 189061648 upstr_intron -33 -0.5079365 CGTAGAGAGGAAGCAGACAAAGATCTGGTTGTATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT mutant NA NA NA NA NA 282 893 0.8637737 1 0.9318869 NA NA 0.9873683 0.9837932 NA NA -0.1235946 0.01620676 NA 0.9855808 NA -0.05369391 NA FALSE NA 0 -1.591 NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00003626834 intron_variant -0.135646 0.08654 0.01044 0.088506 0.5471084 0.0946271 1 TRUE 4.07295e-06 ENSE00002409612_BRK ENSE00002409612 BRK 2 189926235 189926404 - 53 54 63 A,G; T,T NA NA NA CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTTTGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGCCATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT 189061508 189061678 NA NA NA NA NA NA CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTTTGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGCCATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT CGTAGAGAGGAAGCAGACAAAGATCTGGTTATATTCACAATTATTTTCTCCTTCACAACTTAGGGTCTAGCTGGTGAAAGAGGAGAACAAGGACCTCCAGGCCCCACAGGTTTTCAGGTATGCACTAATTCGGTTTTCCATTTCATCTTCCATTAACTAAAATGCTTTTT control 54 87 0 0 0 289 863 0.01277993 0.04461505 0.02869749 NA NA 0.9873683 0.9837932 NA NA -0.9745884 -0.9391782 NA 0.9855808 NA -0.9568833 NA TRUE NA NA NA NA NA NA COL5A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL5A2 NA NA NA ENSG00000204262 ENSE00003626834 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002409999_000 ENSE00002409999 000 1 176769143 176769312 + 54 72 44 NA NA NA NA NA CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 NA NA NA NA NA NA CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG natural 88 39 0.9459076 0.99032 0.9681138 2155 1311 0.9825594 0.9565579 0.9695586 0.9459076 0.99032 0.9825594 0.9565579 0 0 0 0 0.9681138 0.9695586 0 0 0 FALSE FALSE NA NA NA NA NA PAPPA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA2 NA NA NA ENSG00000116183 ENSE00003502304 NA NA NA NA NA NA NA 0.001250054 FALSE NA ENSE00002409999_001 ENSE00002409999 001 1 176769143 176769312 + 54 72 44 G A 176769155 4305 13 CACACAACAAATATCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800018 176800019 176800019 upstr_intron -42 -0.7592593 CACACAACAAATATCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 124 2171 0.9809237 0.9425176 0.9617206 0.9459076 0.99032 0.9825594 0.9565579 NA NA -0.001635745 -0.01404022 0.9681138 0.9695586 NA -0.007837984 NA FALSE NA 0 -0.443 . intron_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 2/3 1 NA TGT G,A 8.274e-06 1:176800019 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant 0.080488 0.10493 0.01701 0.053691 0.8018608 0.0550493 0.001250054 FALSE 4.08173e-06 ENSE00002409999_002 ENSE00002409999 002 1 176769143 176769312 + 54 72 44 T C 176769163 4306 21 CACACAACAAATGTCTTTAACTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800026 176800027 176800027 upstr_intron -34 -0.6111111 CACACAACAAATGTCTTTAACTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 570 393 0.9764064 1 0.9882032 0.9459076 0.99032 0.9825594 0.9565579 NA NA -0.006152966 0.04344214 0.9681138 0.9695586 NA 0.01864459 NA FALSE NA 0 0.248 . intron_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 2/3 1 NA ATT T,C 8.274e-06 1:176800027 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant 0.996632 0.23103 0.03136 0.053691 0.6932816 0.0550493 0.001250054 FALSE 8.14943e-06 ENSE00002409999_003 ENSE00002409999 003 1 176769143 176769312 + 54 72 44 T C 176769175 4307 33 CACACAACAAATGTCTTTAATTTTGTTTTCTGCTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800038 176800039 176800039 upstr_intron -22 -0.3888889 CACACAACAAATGTCTTTAATTTTGTTTTCTGCTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 845 1280 0.9407474 0.9289358 0.9348416 0.9459076 0.99032 0.9825594 0.9565579 NA NA -0.04181199 -0.02762202 0.9681138 0.9695586 NA -0.03471701 NA FALSE NA 0 1.15 . intron_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 2/3 1 NA GTT T,C 8.275e-06 1:176800039 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant 1.673153 0.22975 0.01604 0.053691 0.7442852 0.0550493 0.001250054 FALSE 8.14458e-06 ENSE00002409999_004 ENSE00002409999 004 1 176769143 176769312 + 54 72 44 C T 176769182 4308 40 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCTGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800045 176800046 176800046 upstr_intron -15 -0.2592593 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCTGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 119 916 0.6953501 0.7918843 0.7436172 0.9459076 0.99032 0.9825594 0.9565579 NA NA -0.2872093 -0.1646735 0.9681138 0.9695586 NA -0.2259414 NA FALSE NA 0 -0.394 . intron_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 2/3 1 NA CCG C,T 2.482e-05 1:176800046 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant 0.435355 0.17549 0.00589 0.053691 0.6155826 0.0651263 0.001250054 FALSE 3.66584e-05 ENSE00002409999_005 ENSE00002409999 005 1 176769143 176769312 + 54 72 44 G A 176769183 4309 41 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCATCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800046 176800047 176800047 upstr_intron -14 -0.2407407 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCATCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 262 2594 0.9892668 0.9408165 0.9650416 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.006707378 -0.01574135 0.9681138 0.9695586 NA -0.004516986 NA FALSE NA 0 -4.352 . intron_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 2/3 rs200234301 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0016 A:0 CGT G,A 0.0001324 1:176800047 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant -0.356079 0.03957 0.00214 0.053691 0.7248355 0.034316 0.001250054 FALSE 0.000109958 ENSE00002409999_006 ENSE00002409999 006 1 176769143 176769312 + 54 72 44 C T 176769189 4310 47 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTTCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800052 176800053 176800053 upstr_intron -8 -0.1296296 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTTCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 594 315 0.9905794 0.9707979 0.9806886 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.008019985 0.01424003 0.9681138 0.9695586 NA 0.01113001 NA FALSE NA 0 0.169 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PAPPA2 HGNC 14615 ENST00000479836 2/3 1 NA TCC C,T 8.274e-06 1:176800053 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 splice_region_variant 1.150188 0.19605 0.05248 0.053691 0.5655501 0.0629004 0.001250054 FALSE 4.071e-06 ENSE00002409999_007 ENSE00002409999 007 1 176769143 176769312 + 54 72 44 T G 176769193 4311 51 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCGTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800056 176800057 176800057 upstr_intron -4 -0.05555556 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCGTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant 10 16 0.983205 0.9988423 0.9910237 488 96 0.994563 1 0.9972815 0.9459076 0.99032 0.9825594 0.9565579 0.03729732 0.008522364 0.01200359 0.04344214 0.9681138 0.9695586 0.02290984 0.02772287 0.004813026 FALSE FALSE 0 -0.829 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW PAPPA2 HGNC 14615 ENST00000479836 2/3 1 NA CTT T,G 8.274e-06 1:176800057 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 splice_region_variant 1.061899 0.36269 0.09444 0.053691 0.6816668 0.0629004 0.001250054 FALSE 4.06921e-06 ENSE00002409999_008 ENSE00002409999 008 1 176769143 176769312 + 54 72 44 A T 176769195 4312 53 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTTGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800058 176800059 176800059 upstr_intron -2 -0.01851852 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTTGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant 20 36 0.9648365 0.85 0.9074183 NA NA NA NA NA 0.9459076 0.99032 0.9825594 0.9565579 0.0189289 -0.14032 NA NA 0.9681138 0.9695586 -0.06069554 NA NA NA FALSE 1 5.553 . splice_acceptor_variant&non_coding_transcript_variant HIGH PAPPA2 HGNC 14615 ENST00000479836 2/3 1 NA TAG A,T 8.274e-06 1:176800059 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 splice_acceptor_variant 4.683755 0.98971 0.98698 0.053691 0.994451 0.971243 0.001250054 FALSE 4.06921e-06 ENSE00002409999_009 ENSE00002409999 009 1 176769143 176769312 + 54 72 44 T G 176769204 4313 62 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGGGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800067 176800068 176800068 exon 8 0.1111111 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGGGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 697 329 1 0.9914529 0.9957264 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.0174406 0.03489502 0.9681138 0.9695586 NA 0.02616781 NA FALSE NA 1 4.779 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA GTG T,G 8.275e-06 1:176800068 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 6.320333 0.98913 0.98212 0.553676 0.995854 0 0.001250054 FALSE 4.06825e-06 ENSE00002409999_010 ENSE00002409999 010 1 176769143 176769312 + 54 72 44 C T 176769215 4314 73 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCTGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800078 176800079 176800079 exon 19 0.2638889 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCTGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 1665 620 0.9920703 0.995649 0.9938597 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.009510937 0.03909114 0.9681138 0.9695586 NA 0.02430104 NA FALSE NA 0 0.001 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA CCG C,T 4.137e-05 1:176800079 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 7.663676 0.81405 0.12595 0.553676 0.9983476 0 0.001250054 FALSE 3.25555e-05 ENSE00002409999_011 ENSE00002409999 011 1 176769143 176769312 + 54 72 44 G A 176769216 4315 74 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCAGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800079 176800080 176800080 exon 20 0.2777778 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCAGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 1114 2257 0.9985503 0.9989477 0.998749 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.01599089 0.04238982 0.9681138 0.9695586 NA 0.02919035 NA FALSE NA 0.016 0.901 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 COSM3976566 1 NA CGG G,A 1.655e-05 1:176800080 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 2.924864 0.48832 0.10307 0.553676 0.9879716 0 0.001250054 FALSE 1.22094e-05 ENSE00002409999_012 ENSE00002409999 012 1 176769143 176769312 + 54 72 44 C T 176769218 4316 76 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGTGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800081 176800082 176800082 exon 22 0.3055556 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGTGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 1207 64 0.9965024 1 0.9982512 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.01394296 0.04344214 0.9681138 0.9695586 NA 0.02869255 NA FALSE NA 0.012 0.104 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 rs375000323 1 NA T:0.0003 T:0.0001 GCG C,T 3.31e-05 1:176800082 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 7.379256 0.3064 0.06141 0.553676 0.9992716 0 0.001250054 FALSE 2.03457e-05 ENSE00002409999_013 ENSE00002409999 013 1 176769143 176769312 + 54 72 44 G A 176769219 4317 77 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCATCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800082 176800083 176800083 exon 23 0.3194444 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCATCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 531 63 0.9769993 0.9974813 0.9872403 0.9459076 0.99032 0.9825594 0.9565579 NA NA -0.005560119 0.04092343 0.9681138 0.9695586 NA 0.01768166 NA FALSE NA 0.039 1.476 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 COSM259070 1 NA CGT G,A 7.447e-05 1:176800083 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 5.984314 0.23881 0.08493 0.553676 0.9985972 0 0.001250054 FALSE 5.29096e-05 ENSE00002409999_014 ENSE00002409999 014 1 176769143 176769312 + 54 72 44 A G 176769222 4318 80 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCGATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800085 176800086 176800086 exon 26 0.3611111 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCGATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 125 908 0.9802365 0.9985621 0.9893993 0.9459076 0.99032 0.9825594 0.9565579 NA NA -0.002322898 0.04200425 0.9681138 0.9695586 NA 0.01984068 NA FALSE NA 0.042 0.736 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA CAA A,G 8.274e-06 1:176800086 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 1.148559 0.18864 0.03042 0.553676 0.9696141 0 0.001250054 FALSE 4.06904e-06 ENSE00002409999_015 ENSE00002409999 015 1 176769143 176769312 + 54 72 44 A G 176769223 4319 81 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAGTGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800086 176800087 176800087 exon 27 0.375 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAGTGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 650 382 1 0.9712576 0.9856288 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.0174406 0.01469976 0.9681138 0.9695586 NA 0.01607018 NA FALSE NA 0.035 -0.467 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA AAT A,G 3.309e-05 1:176800087 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 synonymous_variant 0.754047 0.18651 0.00496 0.553676 0.4711672 0 0.001250054 FALSE 2.44155e-05 ENSE00002409999_016 ENSE00002409999 016 1 176769143 176769312 + 54 72 44 C A 176769227 4320 85 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGAACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800090 176800091 176800091 exon 31 0.4305556 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGAACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 410 1763 0.9947265 0.9992627 0.9969946 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.01216713 0.04270481 0.9681138 0.9695586 NA 0.02743597 NA FALSE NA 1 0.573 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA GCA C,A 8.274e-06 1:176800091 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 6.04754 0.97886 0.86336 0.553676 0.9878854 0 0.001250054 FALSE 4.06941e-06 ENSE00002409999_017 ENSE00002409999 017 1 176769143 176769312 + 54 72 44 C T 176769237 4321 95 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCTCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800100 176800101 176800101 exon -32 0.5694444 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCTCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 326 2398 1 0.9996637 0.9998318 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.0174406 0.0431058 0.9681138 0.9695586 NA 0.0302732 NA FALSE NA 0.994 4.603 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA CCC C,T 8.274e-06 1:176800101 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 6.904465 0.98979 0.95229 0.487112 0.9984618 0 0.001250054 FALSE 4.06914e-06 ENSE00002409999_018 ENSE00002409999 018 1 176769143 176769312 + 54 72 44 C T 176769238 4322 96 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCTGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800101 176800102 176800102 exon -31 0.5833333 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCTGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 117 817 0.9626206 0.997107 0.9798638 0.9459076 0.99032 0.9825594 0.9565579 NA NA -0.01993877 0.04054911 0.9681138 0.9695586 NA 0.01030517 NA FALSE NA 0.004 -0.449 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:176800102 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 synonymous_variant 1.790914 0.68998 0.06547 0.487112 0.5682065 0 0.001250054 FALSE 6.91777e-05 ENSE00002409999_019 ENSE00002409999 019 1 176769143 176769312 + 54 72 44 C G 176769238 4323 96 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCGGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800101 176800102 176800102 exon -31 0.5833333 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCGGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant 16 30 1 0.9962311 0.9981156 NA NA NA NA NA 0.9459076 0.99032 0.9825594 0.9565579 0.05409235 0.005911162 NA NA 0.9681138 0.9695586 0.03000176 NA NA NA FALSE 0.004 -0.449 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA2 NA NA NA ENSG00000116183 ENSE00003502304 synonymous_variant 1.337473 0.71085 0.12676 0.487112 0.5220486 0 0.001250054 FALSE 8.13855e-06 ENSE00002409999_020 ENSE00002409999 020 1 176769143 176769312 + 54 72 44 G A 176769239 4324 97 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCATCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800102 176800103 176800103 exon -30 0.5972222 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCATCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 675 373 0.9974314 0.9986625 0.9980469 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.01487197 0.04210463 0.9681138 0.9695586 NA 0.0284883 NA FALSE NA 0 -0.563 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:176800103 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 1.032112 0.20352 0.01461 0.487112 0.9289083 0 0.001250054 FALSE 8.13921e-06 ENSE00002409999_021 ENSE00002409999 021 1 176769143 176769312 + 54 72 44 G C 176769239 4325 97 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCCTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800102 176800103 176800103 exon -30 0.5972222 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCCTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 92 459 1 1 1 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.0174406 0.04344214 0.9681138 0.9695586 NA 0.03044137 NA FALSE NA 0 -0.563 NA NA NA PAPPA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA2 NA NA NA ENSG00000116183 ENSE00003502304 missense_variant 0.786284 0.20848 0.01615 0.487112 0.8694233 0 0.001250054 FALSE 4.06961e-06 ENSE00002409999_022 ENSE00002409999 022 1 176769143 176769312 + 54 72 44 A C 176769244 4326 102 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTCGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800107 176800108 176800108 exon -25 0.6666667 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTCGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 224 189 0.985312 0.9797354 0.9825237 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.002752626 0.02317758 0.9681138 0.9695586 NA 0.0129651 NA FALSE NA 0.304 1.006 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA TAG A,C 8.274e-06 1:176800108 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 1.998772 0.3326 0.06512 0.487112 0.9830283 0 0.001250054 FALSE 4.06937e-06 ENSE00002409999_023 ENSE00002409999 023 1 176769143 176769312 + 54 72 44 C T 176769247 4327 105 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTTCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800110 176800111 176800111 exon -22 0.7083333 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTTCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 309 1203 0.9935673 0.9959708 0.9947691 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.01100793 0.03941299 0.9681138 0.9695586 NA 0.02521046 NA FALSE NA 0.998 0.469 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA TCC C,T 8.274e-06 1:176800111 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 synonymous_variant 1.748124 0.96338 0.56067 0.487112 0.6783219 0 0.001250054 FALSE 4.06951e-06 ENSE00002409999_024 ENSE00002409999 024 1 176769143 176769312 + 54 72 44 C T 176769248 4328 106 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCTACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800111 176800112 176800112 exon -21 0.7222222 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCTACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 1639 736 1 0.9841495 0.9920747 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.0174406 0.02759161 0.9681138 0.9695586 NA 0.02251611 NA FALSE NA 1 1.543 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/4 1 NA CCA C,T 8.274e-06 1:176800112 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 missense_variant 2.421359 0.98346 0.86442 0.487112 0.9870139 0 0.001250054 FALSE 4.06954e-06 ENSE00002409999_025 ENSE00002409999 025 1 176769143 176769312 + 54 72 44 T C 176769286 4329 144 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTCCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 176800149 176800150 176800150 downstr_intron 18 1.418605 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTCCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 308 838 0.9990609 0.9977381 0.9983995 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.01650152 0.04118022 0.9681138 0.9695586 NA 0.02884087 NA FALSE NA 0 -0.007 . intron_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/3 1 NA TTC T,C 2.483e-05 1:176800150 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant 0.0833 0.17528 0.00407 0.053691 0.3395252 0.04846 0.001250054 FALSE 3.66676e-05 ENSE00002409999_026 ENSE00002409999 026 1 176769143 176769312 + 54 72 44 A T 176769292 4330 150 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCATCTCAGACTAGAGAACTCAGG 176800006 176800176 176800155 176800156 176800156 downstr_intron 24 1.55814 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCATCTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 304 362 1 0.9977613 0.9988806 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.0174406 0.04120341 0.9681138 0.9695586 NA 0.02932201 NA FALSE NA 0 -0.361 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:176800156 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant -0.043074 0.14917 0.08198 0.053691 0.465544 0.04846 0.001250054 FALSE 4.07727e-06 ENSE00002409999_027 ENSE00002409999 027 1 176769143 176769312 + 54 72 44 A G 176769292 4331 150 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAGCTCAGACTAGAGAACTCAGG 176800006 176800176 176800155 176800156 176800156 downstr_intron 24 1.55814 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAGCTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 710 1731 0.9971245 0.9440273 0.9705759 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.01456514 -0.01253059 0.9681138 0.9695586 NA 0.001017274 NA FALSE NA 0 -0.361 NA NA NA PAPPA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA2 NA NA NA ENSG00000116183 ENSE00003502304 intron_variant 0.046519 0.13329 0.02474 0.053691 0.2524369 0.04846 0.001250054 FALSE 3.26182e-05 ENSE00002409999_028 ENSE00002409999 028 1 176769143 176769312 + 54 72 44 G C 176769297 4332 155 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCACACTAGAGAACTCAGG 176800006 176800176 176800160 176800161 176800161 downstr_intron 29 1.674419 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCACACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant NA NA NA NA NA 861 467 0.9917095 1 0.9958548 0.9459076 0.99032 0.9825594 0.9565579 NA NA 0.009150134 0.04344214 0.9681138 0.9695586 NA 0.02629614 NA FALSE NA 0 -0.335 . intron_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/3 1 NA AGA G,C 5.793e-05 1:176800161 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant -0.134254 0.18094 0.05178 0.053691 0.3449365 0.04846 0.001250054 FALSE 4.89676e-05 ENSE00002409999_029 ENSE00002409999 029 1 176769143 176769312 + 54 72 44 A T 176769298 4333 156 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGTCTAGAGAACTCAGG 176800006 176800176 176800161 176800162 176800162 downstr_intron 30 1.697674 CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGTCTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG mutant 13 10 1 1 1 1102 562 0.9919827 0.9996506 0.9958166 0.9459076 0.99032 0.9825594 0.9565579 0.05409235 0.009680022 0.009423294 0.04309274 0.9681138 0.9695586 0.03188619 0.02625802 0.005628172 FALSE FALSE 0 -0.114 . intron_variant&non_coding_transcript_variant MODIFIER PAPPA2 HGNC 14615 ENST00000479836 3/3 rs375056744 1 NA T:0.0003 T:0 GAC A,T 8.276e-06 1:176800162 PAPPA2 HGNC Symbol protein_coding 382434 ENSG00000116183 ENSE00003502304 intron_variant -0.146749 0.16478 0.02386 0.053691 0.6042697 0.04846 0.001250054 FALSE 4.0815e-06 ENSE00002409999_BRK ENSE00002409999 BRK 1 176769143 176769312 + 54 72 44 A,G; T,T NA NA NA CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTTTAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGCCAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG 176800006 176800176 NA NA NA NA NA NA CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTTTAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGCCAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG CACACAACAAATGTCTTTAATTTTGTTTTCTGTTTTTCCCGTCTTTCCCCTTAGAGCATTGTGTGCACTGGCCGGCGTCAATGGCACCCAGACCCCGTCTTAGTCCACTGCATCCAGTCATGTGAGGTAAGATAGCCTCCCCTTCCCCAACTCAGACTAGAGAACTCAGG control 206 217 0 0 0 127 80 0 0 0 0.9459076 0.99032 0.9825594 0.9565579 -0.9459076 -0.99032 -0.9825594 -0.9565579 0.9681138 0.9695586 -0.9681138 -0.9695586 0.001444816 TRUE TRUE NA NA NA NA NA PAPPA2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PAPPA2 NA NA NA ENSG00000116183 ENSE00003502304 NA NA NA NA NA NA NA 0.001250054 FALSE NA ENSE00002410169_000 ENSE00002410169 000 2 130921903 130922072 - 44 72 54 NA NA NA NA NA GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 NA NA NA NA NA NA GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC natural 117 152 0.9978385 0.9969218 0.9973802 2787 2835 0.8632797 0.9503967 0.9068382 0.9978385 0.9969218 0.8632797 0.9503967 0 0 0 0 0.9973802 0.9068382 0 0 0 FALSE FALSE NA NA NA NA NA SMPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMPD4 NA NA NA ENSG00000136699 ENSE00003525118 NA NA NA NA NA NA NA 0.006058046 FALSE NA ENSE00002410169_001 ENSE00002410169 001 2 130921903 130922072 - 44 72 54 G A 130921915 2652 158 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGTTTCTGACCCTGC 130164329 130164499 130164341 130164342 130164342 downstr_intron 32 1.744186 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGTTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 576 1534 0.9924653 0.9953822 0.9939237 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1291856 0.0449855 0.9973802 0.9068382 NA 0.08708555 NA FALSE NA 0 -0.123 . intron_variant&NMD_transcript_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 4/7 rs373373382 1 NA A:0 A:0.0001 AGC .,A 8.236e-06 2:130164342 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 intron_variant 0.39794 0.14729 0.07226 0.295142 0.7115135 0.0546611 0.006058046 FALSE 4.06336e-06 ENSE00002410169_002 ENSE00002410169 002 2 130921903 130922072 - 44 72 54 A G 130921917 2653 156 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCCGCTTCTGACCCTGC 130164329 130164499 130164343 130164344 130164344 downstr_intron 30 1.697674 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCCGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 406 1464 0.9429722 0.8336136 0.8882929 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.07969247 -0.1167831 0.9973802 0.9068382 NA -0.0185453 NA FALSE NA 0 1.435 . intron_variant&NMD_transcript_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 4/7 1 NA CAG .,G 3.295e-05 2:130164344 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 intron_variant 0.36173 0.1526 0.15366 0.295142 0.8291045 0.0546611 0.006058046 FALSE 2.84423e-05 ENSE00002410169_003 ENSE00002410169 003 2 130921903 130922072 - 44 72 54 G T 130921929 2654 144 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTATTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164355 130164356 130164356 downstr_intron 18 1.418605 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTATTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 1478 1054 0.956218 0.9981244 0.9771712 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.0929383 0.04772768 0.9973802 0.9068382 NA 0.07033299 NA FALSE NA 0 -0.336 . intron_variant&NMD_transcript_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 4/7 rs377556845 1 NA T:0 T:0.0001 AGA .,T 8.236e-06 2:130164356 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 intron_variant 0.674655 0.17301 0.10261 0.295142 0.7774008 0.0546611 0.006058046 FALSE 4.06151e-06 ENSE00002410169_004 ENSE00002410169 004 2 130921903 130922072 - 44 72 54 A T 130921934 2655 139 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGATTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164360 130164361 130164361 downstr_intron 13 1.302326 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGATTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 3495 624 0.9979791 0.9968339 0.9974065 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1346993 0.0464372 0.9973802 0.9068382 NA 0.09056827 NA FALSE NA 0 0.358 . intron_variant&NMD_transcript_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 4/7 1 NA AAC .,T 8.236e-06 2:130164361 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 intron_variant 0.459643 0.14928 0.10446 0.295142 0.7747254 0.0546611 0.006058046 FALSE 4.06128e-06 ENSE00002410169_005 ENSE00002410169 005 2 130921903 130922072 - 44 72 54 A C 130921938 2656 135 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTGCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164364 130164365 130164365 downstr_intron 9 1.209302 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTGCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 1574 506 0.9983813 0.9995475 0.9989644 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1351016 0.04915077 0.9973802 0.9068382 NA 0.09212617 NA FALSE NA 0 1.375 . intron_variant&NMD_transcript_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 4/7 rs199586464 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0 C:0.0001 GAA .,C 4.118e-05 2:130164365 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 intron_variant 0.662342 0.2118 0.10686 0.295142 0.8168997 0.0546611 0.006058046 FALSE 3.65509e-05 ENSE00002410169_008 ENSE00002410169 008 2 130921903 130922072 - 44 72 54 T G 130921954 2659 119 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCCTGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164380 130164381 130164381 exon -8 0.9027778 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCCTGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 2090 205 0.9926533 0.9954039 0.9940286 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1293736 0.0450072 0.9973802 0.9068382 NA 0.08719041 NA FALSE NA 1 7.807 . missense_variant&NMD_transcript_variant MODERATE SMPD4 HGNC 32949 ENST00000435455 4/8 1 deleterious_low_confidence(0.01) possibly_damaging(0.878) NA ATG .,G 5.765e-05 2:130164381 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 missense_variant 5.70157 0.93677 0.95288 0.706548 0.9773518 0 0.006058046 FALSE 4.4669e-05 ENSE00002410169_009 ENSE00002410169 009 2 130921903 130922072 - 44 72 54 G A 130921955 2660 118 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTTATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164381 130164382 130164382 exon -9 0.8888889 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTTATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 4399 961 0.9989828 0.9990113 0.998997 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.135703 0.04861461 0.9973802 0.9068382 NA 0.09215882 NA FALSE NA 1 7.581 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:130164382 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 missense_variant 4.075266 0.92155 0.93887 0.706548 0.9784049 0 0.006058046 FALSE 4.06081e-06 ENSE00002410169_010 ENSE00002410169 010 2 130921903 130922072 - 44 72 54 G T 130921955 2661 118 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTAATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164381 130164382 130164382 exon -9 0.8888889 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTAATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 236 168 1 0.9686254 0.9843127 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1367203 0.01822875 0.9973802 0.9068382 NA 0.07747452 NA FALSE NA 1 7.581 NA NA NA SMPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMPD4 NA NA NA ENSG00000136699 ENSE00003525118 missense_variant 4.204525 0.92138 0.94006 0.706548 0.9867893 0 0.006058046 FALSE 4.06081e-06 ENSE00002410169_011 ENSE00002410169 011 2 130921903 130922072 - 44 72 54 G A 130921957 2662 116 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCTTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164383 130164384 130164384 exon -11 0.8611111 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCTTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 159 3519 0.9872249 0.9706953 0.9789601 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1239452 0.02029866 0.9973802 0.9068382 NA 0.07212194 NA FALSE NA 1 9.567 . missense_variant&NMD_transcript_variant MODERATE SMPD4 HGNC 32949 ENST00000435455 4/8 1 deleterious_low_confidence(0.02) probably_damaging(0.999) NA AGG .,A 2.471e-05 2:130164384 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 missense_variant 6.437863 0.94655 0.96528 0.706548 0.998173 0 0.006058046 FALSE 1.6243e-05 ENSE00002410169_012 ENSE00002410169 012 2 130921903 130922072 - 44 72 54 G C 130921960 2663 113 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTGCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164386 130164387 130164387 exon -14 0.8194444 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTGCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 799 701 1 0.9954189 0.9977095 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1367203 0.04502225 0.9973802 0.9068382 NA 0.09087127 NA FALSE NA 1 9.567 . missense_variant&NMD_transcript_variant MODERATE SMPD4 HGNC 32949 ENST00000435455 4/8 1 deleterious_low_confidence(0) probably_damaging(0.922) NA GGA .,C 0.0002141 2:130164387 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 missense_variant 5.779691 0.94821 0.97052 0.706548 0.9931347 0 0.006058046 FALSE 0.000276135 ENSE00002410169_013 ENSE00002410169 013 2 130921903 130922072 - 44 72 54 T C 130921971 2664 102 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAGAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164397 130164398 130164398 exon -25 0.6666667 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAGAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 1872 1088 0.9956326 0.9972531 0.9964429 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1323529 0.04685641 0.9973802 0.9068382 NA 0.08960466 NA FALSE NA 0.996 0.474 rs145962680 synonymous_variant&NMD_transcript_variant LOW SMPD4 HGNC 32949 ENST00000435455 4/8 rs145962680 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0023 C:0 TTT .,C 0.0002553 2:130164398 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 synonymous_variant -0.299103 0.8479 0.3696 0.706548 0.9930764 0 0.006058046 FALSE 0.000158364 ENSE00002410169_014 ENSE00002410169 014 2 130921903 130922072 - 44 72 54 A C 130921978 2665 95 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGAGGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164404 130164405 130164405 exon -32 0.5694444 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGAGGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 314 1171 1 0.8918904 0.9459452 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1367203 -0.05850629 0.9973802 0.9068382 NA 0.03910699 NA FALSE NA 1 9.057 . missense_variant&NMD_transcript_variant MODERATE SMPD4 HGNC 32949 ENST00000435455 4/8 1 deleterious_low_confidence(0) benign(0.444) NA CAT .,C 8.236e-06 2:130164405 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 missense_variant 2.961221 0.93754 0.96526 0.706548 0.978525 0 0.006058046 FALSE 4.06072e-06 ENSE00002410169_015 ENSE00002410169 015 2 130921903 130922072 - 44 72 54 T C 130921990 2666 83 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTGTTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164416 130164417 130164417 exon 29 0.4027778 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTGTTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 1493 1570 0.9198154 0.9997572 0.9597863 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.0565357 0.04936055 0.9973802 0.9068382 NA 0.05294813 NA FALSE NA 1 7.807 . missense_variant&NMD_transcript_variant MODERATE SMPD4 HGNC 32949 ENST00000435455 4/8 1 deleterious_low_confidence(0) probably_damaging(0.999) NA ATA .,C 8.236e-06 2:130164417 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 missense_variant 5.648016 0.93517 0.94614 0.706548 0.9980951 0 0.006058046 FALSE 8.12143e-06 ENSE00002410169_016 ENSE00002410169 016 2 130921903 130922072 - 44 72 54 A G 130921995 2667 78 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCACCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164421 130164422 130164422 exon 24 0.3333333 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCACCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 1074 1273 0.9993468 0.995985 0.9976659 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1360671 0.04558835 0.9973802 0.9068382 NA 0.0908277 NA FALSE NA 0.973 0.102 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:130164422 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 synonymous_variant 0.096061 0.80333 0.45692 0.706548 0.7063546 0 0.006058046 FALSE 4.06088e-06 ENSE00002410169_017 ENSE00002410169 017 2 130921903 130922072 - 44 72 54 A C 130921995 2668 78 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCAGCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164421 130164422 130164422 exon 24 0.3333333 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCAGCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 2003 3110 0.9948956 0.9992135 0.9970546 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1316159 0.04881686 0.9973802 0.9068382 NA 0.09021637 NA FALSE NA 0.973 0.102 NA NA NA SMPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMPD4 NA NA NA ENSG00000136699 ENSE00003525118 missense_variant 3.979988 0.84406 0.73062 0.706548 0.9815451 0 0.006058046 FALSE 4.06088e-06 ENSE00002410169_018 ENSE00002410169 018 2 130921903 130922072 - 44 72 54 C A 130922004 2669 69 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATTTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164430 130164431 130164431 exon 15 0.2083333 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATTTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 632 598 0.9994779 0.9984498 0.9989639 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1361982 0.04805313 0.9973802 0.9068382 NA 0.09212566 NA FALSE NA 1 3.863 . start_lost&NMD_transcript_variant LOW SMPD4 HGNC 32949 ENST00000435455 4/8 1 tolerated_low_confidence(0.19) possibly_damaging(0.871) NA ACA .,A 8.236e-06 2:130164431 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 start_lost 3.172848 0.88235 0.80272 0.706548 0.9955413 0 0.006058046 FALSE 4.06114e-06 ENSE00002410169_019 ENSE00002410169 019 2 130921903 130922072 - 44 72 54 A G 130922005 2670 68 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAACGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164431 130164432 130164432 exon 14 0.1944444 GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAACGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 423 101 0.9963572 0.9761773 0.9862673 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1330775 0.02578064 0.9973802 0.9068382 NA 0.07942907 NA FALSE NA 1 9.057 . start_lost&NMD_transcript_variant LOW SMPD4 HGNC 32949 ENST00000435455 4/8 1 deleterious_low_confidence(0) probably_damaging(0.943) NA CAT .,G 2.471e-05 2:130164432 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 start_lost 3.759773 0.9369 0.96338 0.706548 0.9918684 0 0.006058046 FALSE 1.21834e-05 ENSE00002410169_022 ENSE00002410169 022 2 130921903 130922072 - 44 72 54 T C 130922048 2673 25 GATGGTCTGACACCATTGTCAAGAGTGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164474 130164475 130164475 upstr_intron -30 -0.537037 GATGGTCTGACACCATTGTCAAGAGTGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 2656 588 0.9971997 0.9727823 0.984991 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.13392 0.02238562 0.9973802 0.9068382 NA 0.07815279 NA FALSE NA 0 -0.012 . intron_variant&NMD_transcript_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 3/7 1 NA ATT .,C 8.237e-06 2:130164475 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 intron_variant 0.23471 0.15795 0.11669 0.099367 0.8519644 0.0476178 0.006058046 FALSE NA ENSE00002410169_023 ENSE00002410169 023 2 130921903 130922072 - 44 72 54 G C 130922060 2674 13 GATGGTCTGACAGCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 130164486 130164487 130164487 upstr_intron -42 -0.7592593 GATGGTCTGACAGCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC mutant NA NA NA NA NA 1036 90 0.9845872 0.9764578 0.9805225 0.9978385 0.9969218 0.8632797 0.9503967 NA NA 0.1213075 0.02606116 0.9973802 0.9068382 NA 0.07368431 NA FALSE NA 0 -0.364 . intron_variant&NMD_transcript_variant MODIFIER SMPD4 HGNC 32949 ENST00000435455 3/7 rs370508621 1 NA C:0.0002 C:0 GGT .,C 8.238e-06 2:130164487 SMPD4 HGNC Symbol protein_coding 31358 ENSG00000136699 ENSE00003525118 intron_variant -0.18454 0.17813 0.09522 0.099367 0.4908736 0.0476178 0.006058046 FALSE 4.21962e-06 ENSE00002410169_BRK ENSE00002410169 BRK 2 130921903 130922072 - 44 72 54 A,G; T,T NA NA NA GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCTTGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGCCATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC 130164329 130164499 NA NA NA NA NA NA GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCTTGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGCCATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC GATGGTCTGACACCATTGTCAAGAATGGTTTGACTAGCTAATGCTTTTTTGCAGGTTTTTGTTGAAATGTGGCTTCATCACTATTCCTTGGAGATGTATCAAAAAATGCAGTCCCCTCATGCCAAGGTATGTTTTCAGTTTTTCTTCCCACCTCCTGCTTCTGACCCTGC control 91 38 0 0 0 2802 315 0.002798034 0.004245021 0.003521527 0.9978385 0.9969218 0.8632797 0.9503967 -0.9978385 -0.9969218 -0.8604817 -0.9461517 0.9973802 0.9068382 -0.9973802 -0.9033167 0.09406348 TRUE TRUE NA NA NA NA NA SMPD4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SMPD4 NA NA NA ENSG00000136699 ENSE00003525118 NA NA NA NA NA NA NA 0.006058046 FALSE NA ENSE00002410436_000 ENSE00002410436 000 7 142572795 142572964 - 36 87 47 NA NA NA NA NA GAGGCCTGAAAGCCCTGAGCATTTTGACTGTTCTTCTCCCCCATTAGGAAGCCTACATGACCCCTAAGGACGATATCCGGCTGGTCGGGGAGCTGGTGACTGTCATTGGGGCTATCATCATCCTGCTGGTAGAGGTGAGGTGTGGATGGACTCTGGGTGAGGCTGTCTGC 142875041 142875211 NA NA NA NA NA NA GAGGCCTGAAAGCCCTGAGCATTTTGACTGTTCTTCTCCCCCATTAGGAAGCCTACATGACCCCTAAGGACGATATCCGGCTGGTCGGGGAGCTGGTGACTGTCATTGGGGCTATCATCATCCTGCTGGTAGAGGTGAGGTGTGGATGGACTCTGGGTGAGGCTGTCTGC GAGGCCTGAAAGCCCTGAGCATTTTGACTGTTCTTCTCCCCCATTAGGAAGCCTACATGACCCCTAAGGACGATATCCGGCTGGTCGGGGAGCTGGTGACTGTCATTGGGGCTATCATCATCCTGCTGGTAGAGGTGAGGTGTGGATGGACTCTGGGTGAGGCTGTCTGC natural 369 690 0.8210635 0.8435697 0.8323166 643 617 0.8577411 0.8908521 0.8742966 0.8210635 0.8435697 0.8577411 0.8908521 0 0 0 0 0.8323166 0.8742966 0 0 0 FALSE FALSE NA NA NA NA NA TRPV6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRPV6 NA NA NA ENSG00000165125 ENSE00003560939 NA NA NA NA NA NA NA 0.001413484 FALSE NA ENSE00002410436_019 ENSE00002410436 019 7 142572795 142572964 - 36 87 47 A G 142572907 2978 58 GAGGCCTGAAAGCCCTGAGCATTTTGACTGTTCTTCTCCCCCATTAGGAAGCCTACACGACCCCTAAGGACGATATCCGGCTGGTCGGGGAGCTGGTGACTGTCATTGGGGCTATCATCATCCTGCTGGTAGAGGTGAGGTGTGGATGGACTCTGGGTGAGGCTGTCTGC 142875041 142875211 142875153 142875154 142875154 exon 11 0.1264368 GAGGCCTGAAAGCCCTGAGCATTTTGACTGTTCTTCTCCCCCATTAGGAAGCCTACACGACCCCTAAGGACGATATCCGGCTGGTCGGGGAGCTGGTGACTGTCATTGGGGCTATCATCATCCTGCTGGTAGAGGTGAGGTGTGGATGGACTCTGGGTGAGGCTGTCTGC GAGGCCTGAAAGCCCTGAGCATTTTGACTGTTCTTCTCCCCCATTAGGAAGCCTACATGACCCCTAAGGACGATATCCGGCTGGTCGGGGAGCTGGTGACTGTCATTGGGGCTATCATCATCCTGCTGGTAGAGGTGAGGTGTGGATGGACTCTGGGTGAGGCTGTCTGC mutant NA NA NA NA NA 21 26 0.9939685 1 0.9969843 0.8210635 0.8435697 0.8577411 0.8908521 NA NA 0.1362274 0.1091479 0.8323166 0.8742966 NA 0.1226876 NA FALSE NA 0 0.631 . downstream_gene_variant MODIFIER TRPV6 HGNC 14006 ENST00000431833 rs201693115 1 NA G:0 G:0.0003 CAT A,G 0.0001318 7:142875154 TRPV6 HGNC Symbol protein_coding 14559 ENSG00000165125 ENSE00003560939 start_lost -0.778829 0.53021 0.24683 0.554377 0.7262327 0 0.001413484 FALSE 0.000190852 ENSE00002410582_000 ENSE00002410582 000 7 134645242 134645411 + 42 96 32 NA NA NA NA NA TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 NA NA NA NA NA NA TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT natural NA NA NA NA NA 3236 4879 0.9452536 0.8563876 0.9008206 NA NA 0.9452536 0.8563876 NA NA 0 0 NA 0.9008206 NA 0 NA FALSE NA NA NA NA NA NA CALD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALD1 NA NA NA ENSG00000122786 ENSE00003462172 NA NA NA NA NA NA NA 0.9990977 TRUE NA ENSE00002410582_002 ENSE00002410582 002 7 134645242 134645411 + 42 96 32 C A 134645275 2617 34 TTACTTCATTCTTTAATATTTTGGATGATTGCCACTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960523 134960524 134960524 upstr_intron -9 -0.1904762 TTACTTCATTCTTTAATATTTTGGATGATTGCCACTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 1233 530 0.6809036 0.8103846 0.7456441 NA NA 0.9452536 0.8563876 NA NA -0.26435 -0.04600301 NA 0.9008206 NA -0.1551765 NA FALSE NA 0.011 0.16 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 1 NA CCC C,A 8.236e-06 7:134960524 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 non_coding_transcript_exon_variant 0.080404 0.2 0.09668 0.099367 0.5478206 0.21681 0.9990977 TRUE 4.09249e-06 ENSE00002410582_003 ENSE00002410582 003 7 134645242 134645411 + 42 96 32 G A 134645290 2618 49 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTACTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960538 134960539 134960539 exon 7 0.07291667 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTACTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 932 448 0.9690279 0.9938231 0.9814255 NA NA 0.9452536 0.8563876 NA NA 0.02377433 0.1374355 NA 0.9008206 NA 0.08060493 NA FALSE NA 1 8.719 rs182783470 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 rs182783470 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGC G,A 4.942e-05 7:134960539 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 missense_variant 6.973932 0.99364 0.99415 0.706548 0.9992296 0 0.9990977 TRUE 2.44031e-05 ENSE00002410582_007 ENSE00002410582 007 7 134645242 134645411 + 42 96 32 G A 134645308 2622 67 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGATTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960556 134960557 134960557 exon 25 0.2604167 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGATTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 1009 318 0.8647562 0.9800147 0.9223855 NA NA 0.9452536 0.8563876 NA NA -0.08049736 0.1236271 NA 0.9008206 NA 0.02156489 NA FALSE NA 1 6.925 NA NA NA CALD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:134960557 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 missense_variant 6.660694 0.99101 0.987 0.706548 0.9987191 0 0.9990977 TRUE 2.84449e-05 ENSE00002410582_008 ENSE00002410582 008 7 134645242 134645411 + 42 96 32 C T 134645317 2623 76 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCTGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960565 134960566 134960566 exon 34 0.3541667 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCTGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 624 70 0.9913553 0.9977339 0.9945446 NA NA 0.9452536 0.8563876 NA NA 0.04610179 0.1413463 NA 0.9008206 NA 0.09372406 NA FALSE NA 1 6.906 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 1 NA CCG C,T 8.236e-06 7:134960566 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 missense_variant 8.317059 0.99081 0.98576 0.706548 0.9991591 0 0.9990977 TRUE 8.12612e-06 ENSE00002410582_009 ENSE00002410582 009 7 134645242 134645411 + 42 96 32 C T 134645319 2624 78 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGTATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960567 134960568 134960568 exon 36 0.375 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGTATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 167 67 0.9564711 0.8345738 0.8955224 NA NA 0.9452536 0.8563876 NA NA 0.01121752 -0.02181382 NA 0.9008206 NA -0.005298147 NA FALSE NA 1 0.656 rs2230186 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 rs2230186 1 T:0.0240 T:0.0091 T:0.0346 NA T:0 T:0.0656 T:0.0184 T:0.0136 T:0.0579 GCA C,T 0.036 7:134960568 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 synonymous_variant 1.87517 0.96859 0.78662 0.706548 0.6476311 0 0.9990977 TRUE 0.0374584 ENSE00002410582_011 ENSE00002410582 011 7 134645242 134645411 + 42 96 32 A G 134645324 2626 83 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAGTGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960572 134960573 134960573 exon 41 0.4270833 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAGTGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 433 748 1 0.9793395 0.9896697 NA NA 0.9452536 0.8563876 NA NA 0.05474645 0.1229519 NA 0.9008206 NA 0.08884917 NA FALSE NA 0.998 4.43 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 1 NA AAT A,G 1.647e-05 7:134960573 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 missense_variant 3.859226 0.97118 0.96169 0.706548 0.9985597 0 0.9990977 TRUE 1.62504e-05 ENSE00002410582_012 ENSE00002410582 012 7 134645242 134645411 + 42 96 32 C T 134645332 2627 91 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGTTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960580 134960581 134960581 exon -48 0.5104167 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGTTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 97 1605 0.9934571 0.9929639 0.9932105 NA NA 0.9452536 0.8563876 NA NA 0.04820352 0.1365763 NA 0.9008206 NA 0.09238991 NA FALSE NA 0.994 0.507 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 1 NA GCT C,T 8.237e-06 7:134960581 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 synonymous_variant 1.718431 0.96542 0.79685 0.706548 0.7734776 0 0.9990977 TRUE 4.06273e-06 ENSE00002410582_013 ENSE00002410582 013 7 134645242 134645411 + 42 96 32 A G 134645354 2628 113 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAGCAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960602 134960603 134960603 exon -26 0.7395833 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAGCAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 379 306 0.9526988 0.9356365 0.9441677 NA NA 0.9452536 0.8563876 NA NA 0.007445293 0.07924895 NA 0.9008206 NA 0.04334712 NA FALSE NA 1 2.201 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 rs200797406 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAC A,G 4.118e-05 7:134960603 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 missense_variant 1.715679 0.97022 0.85234 0.706548 0.9901407 0 0.9990977 TRUE 4.87615e-05 ENSE00002410582_016 ENSE00002410582 016 7 134645242 134645411 + 42 96 32 C T 134645375 2631 134 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACTTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960623 134960624 134960624 exon -5 0.9583333 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACTTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 509 229 0.979014 0.9957341 0.987374 NA NA 0.9452536 0.8563876 NA NA 0.03376044 0.1393465 NA 0.9008206 NA 0.08655348 NA FALSE NA 1 6.521 rs116056654 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 rs116056654 1 T:0.0024 T:0.0083 T:0.0014 NA T:0 T:0 T:0 T:0.0113 T:0 CCT C,T 0.0009966 7:134960624 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 missense_variant 7.396583 0.99057 0.9944 0.706548 0.9987969 0 0.9990977 TRUE 0.000712181 ENSE00002410582_017 ENSE00002410582 017 7 134645242 134645411 + 42 96 32 T C 134645390 2632 149 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTCTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960638 134960639 134960639 downstr_intron 11 1.354839 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTCTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 222 453 0.986257 0.9698473 0.9780522 NA NA 0.9452536 0.8563876 NA NA 0.04100347 0.1134597 NA 0.9008206 NA 0.07723158 NA FALSE NA 0 -0.626 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 rs377754486 1 NA C:0.0005 C:0 TTT T,C 3.295e-05 7:134960639 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 non_coding_transcript_exon_variant -0.295123 0.08288 0.02924 0.099367 0.4574921 0.238914 0.9990977 TRUE 3.69373e-05 ENSE00002410582_018 ENSE00002410582 018 7 134645242 134645411 + 42 96 32 T C 134645391 2633 150 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTCAGGTTTTTCTGAGTTTCTTT 134960490 134960660 134960639 134960640 134960640 downstr_intron 12 1.387097 TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTCAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT mutant NA NA NA NA NA 1591 413 0.9902779 0.9962191 0.9932485 NA NA 0.9452536 0.8563876 NA NA 0.04502431 0.1398316 NA 0.9008206 NA 0.09242793 NA FALSE NA 0 -3.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CALD1 HGNC 1441 ENST00000482470 11/11 rs199930696 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TTA T,C 8.237e-06 7:134960640 CALD1 HGNC Symbol protein_coding 226476 ENSG00000122786 ENSE00003462172 non_coding_transcript_exon_variant -0.273355 0.07112 0.00307 0.099367 0.3470853 0.157936 0.9990977 TRUE 1.23283e-05 ENSE00002410582_BRK ENSE00002410582 BRK 7 134645242 134645411 + 42 96 32 A,G; T,T NA NA NA TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTTTGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTCCAAGTACCTTTAGGTTTTTCTGAGTTTCTTT 134960490 134960660 NA NA NA NA NA NA TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTTTGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTCCAAGTACCTTTAGGTTTTTCTGAGTTTCTTT TTACTTCATTCTTTAATATTTTGGATGATTGCCCCTTTGTAGGAAACTGCTGGCTTGAAGGTAGGGGTTTCTAGCCGCATCAATGAATGGCTAACTAAAACCCCAGATGGAAACAAGTCACCTGCTCCCAAACCTTCTGTAAGTACCTTTAGGTTTTTCTGAGTTTCTTT control NA NA NA NA NA 983 207 0.2096961 0.01920155 0.1144488 NA NA 0.9452536 0.8563876 NA NA -0.7355575 -0.837186 NA 0.9008206 NA -0.7863718 NA TRUE NA NA NA NA NA NA CALD1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CALD1 NA NA NA ENSG00000122786 ENSE00003462172 NA NA NA NA NA NA NA 0.9990977 TRUE NA ENSE00002411516_000 ENSE00002411516 000 3 184024491 184024660 + 48 84 38 NA NA NA NA NA TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 NA NA NA NA NA NA TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT natural 31 30 0.9783948 0.9912649 0.9848299 3992 6858 0.9498045 0.9490954 0.94945 0.9783948 0.9912649 0.9498045 0.9490954 0 0 0 0 0.9848299 0.94945 0 0 0 FALSE FALSE NA NA NA NA NA PSMD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD2 NA NA NA ENSG00000175166 ENSE00003615646 NA NA NA NA NA NA NA 0.9999971 TRUE NA ENSE00002411516_001 ENSE00002411516 001 3 184024491 184024660 + 48 84 38 C T 184024507 3814 17 TTTTTTATTCCTTGAGTTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306718 184306719 184306719 upstr_intron -32 -0.6458333 TTTTTTATTCCTTGAGTTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 689 358 0.9997775 0.9511428 0.9754602 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.04997298 0.002047404 0.9848299 0.94945 NA 0.02601019 NA FALSE NA 0.403 1.319 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA GCT C,T 8.236e-06 3:184306719 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 intron_variant 1.334009 0.47411 0.76921 0.156188 0.7674316 0.0776662 0.9999971 TRUE 8.49192e-06 ENSE00002411516_002 ENSE00002411516 002 3 184024491 184024660 + 48 84 38 C G 184024523 3815 33 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTGTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306734 184306735 184306735 upstr_intron -16 -0.3125 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTGTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 539 553 0.9972967 1 0.9986483 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.04749212 0.05090461 0.9848299 0.94945 NA 0.04919836 NA FALSE NA 0 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:184306735 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 intron_variant -0.0837 0.21995 0.05778 0.295142 0.4354284 0.105052 0.9999971 TRUE 4.10236e-06 ENSE00002411516_003 ENSE00002411516 003 3 184024491 184024660 + 48 84 38 C T 184024523 3816 33 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTTTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306734 184306735 184306735 upstr_intron -16 -0.3125 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTTTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 500 563 0.8376178 0.8304905 0.8340542 0.9783948 0.9912649 0.9498045 0.9490954 NA NA -0.1121867 -0.1186049 0.9848299 0.94945 NA -0.1153958 NA FALSE NA 0 0.012 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD2 NA NA NA ENSG00000175166 ENSE00003615646 intron_variant 0.053739 0.27436 0.23754 0.295142 0.2614749 0.105052 0.9999971 TRUE 4.10236e-06 ENSE00002411516_004 ENSE00002411516 004 3 184024491 184024660 + 48 84 38 C A 184024527 3817 37 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTATTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306738 184306739 184306739 upstr_intron -12 -0.2291667 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTATTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 540 829 0.9822202 0.9838269 0.9830236 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.0324157 0.03473156 0.9848299 0.94945 NA 0.03357363 NA FALSE NA 0 1.604 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:184306739 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 intron_variant 0.479463 0.30971 0.75714 0.295142 0.6904398 0.105052 0.9999971 TRUE 4.08831e-06 ENSE00002411516_005 ENSE00002411516 005 3 184024491 184024660 + 48 84 38 C T 184024527 3818 37 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTTTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306738 184306739 184306739 upstr_intron -12 -0.2291667 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTTTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 1179 232 0.9039947 0.9865874 0.9452911 0.9783948 0.9912649 0.9498045 0.9490954 NA NA -0.04580979 0.03749205 0.9848299 0.94945 NA -0.004158873 NA FALSE NA 0 1.604 NA NA NA PSMD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD2 NA NA NA ENSG00000175166 ENSE00003615646 intron_variant 0.413113 0.29832 0.62512 0.295142 0.567277 0.105052 0.9999971 TRUE 8.17661e-06 ENSE00002411516_006 ENSE00002411516 006 3 184024491 184024660 + 48 84 38 T C 184024528 3819 38 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCCTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306739 184306740 184306740 upstr_intron -11 -0.2083333 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCCTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 664 926 1 0.9977494 0.9988747 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.05019546 0.04865398 0.9848299 0.94945 NA 0.04942472 NA FALSE NA 0.003 0.076 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA CTT T,C 8.236e-06 3:184306740 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 intron_variant 0.455857 0.4501 0.37685 0.295142 0.7746931 0.680727 0.9999971 TRUE 4.08754e-06 ENSE00002411516_007 ENSE00002411516 007 3 184024491 184024660 + 48 84 38 A G 184024532 3820 42 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAGTTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306743 184306744 184306744 upstr_intron -7 -0.125 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAGTTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 992 525 0.9649091 0.9990421 0.9819756 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.01510455 0.04994667 0.9848299 0.94945 NA 0.03252561 NA FALSE NA 0 -4.027 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA AAT A,G 8.236e-06 3:184306744 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 splice_region_variant -0.47306 0.18208 0.13017 0.295142 0.5072029 0.105052 0.9999971 TRUE 4.08123e-06 ENSE00002411516_008 ENSE00002411516 008 3 184024491 184024660 + 48 84 38 T C 184024533 3821 43 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAACTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306744 184306745 184306745 upstr_intron -6 -0.1041667 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAACTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 601 233 0.9937057 0.999344 0.9965248 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.04390115 0.05024859 0.9848299 0.94945 NA 0.04707487 NA FALSE NA 0 0.445 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA ATT T,C 2.471e-05 3:184306745 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 splice_region_variant -0.170441 0.2765 0.30403 0.295142 0.6452016 0.180784 0.9999971 TRUE 1.63212e-05 ENSE00002411516_009 ENSE00002411516 009 3 184024491 184024660 + 48 84 38 G A 184024535 3822 45 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTACAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306746 184306747 184306747 upstr_intron -4 -0.0625 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTACAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 1049 314 1 0.9976634 0.9988317 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.05019546 0.04856805 0.9848299 0.94945 NA 0.04938176 NA FALSE NA 0.002 -0.152 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA TGC G,A 8.236e-06 3:184306747 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 splice_region_variant 0.466949 0.32176 0.13219 0.295142 0.7023764 0.208876 0.9999971 TRUE 4.07837e-06 ENSE00002411516_010 ENSE00002411516 010 3 184024491 184024660 + 48 84 38 G A 184024540 3823 50 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGAAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306751 184306752 184306752 exon 2 0.02380952 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGAAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 873 507 0.9975371 0.9999249 0.998731 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.04773259 0.05082952 0.9848299 0.94945 NA 0.04928105 NA FALSE NA 1 9.223 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA GGA G,A 8.236e-06 3:184306752 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 missense_variant 5.756087 0.97944 0.99286 0.706548 0.9966754 0 0.9999971 TRUE 8.14352e-06 ENSE00002411516_011 ENSE00002411516 011 3 184024491 184024660 + 48 84 38 A T 184024566 3824 76 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTTTTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306777 184306778 184306778 exon 28 0.3333333 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTTTTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 522 1151 0.9949712 0.9976862 0.9963287 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.04516668 0.04859078 0.9848299 0.94945 NA 0.04687873 NA FALSE NA 1 8.681 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA TAT A,T 8.236e-06 3:184306778 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 missense_variant 6.258459 0.97464 0.98164 0.706548 0.9878054 0 0.9999971 TRUE NA ENSE00002411516_012 ENSE00002411516 012 3 184024491 184024660 + 48 84 38 A G 184024572 3825 82 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTGTGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306783 184306784 184306784 exon 34 0.4047619 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTGTGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 1662 1567 0.9977499 0.9960481 0.996899 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.04794539 0.04695273 0.9848299 0.94945 NA 0.04744906 NA FALSE NA 1 8.681 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 rs562725422 1 G:0.0014 G:0 G:0 NA G:0 G:0 G:0.0072 TAT A,G 0.0004777 3:184306784 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 missense_variant 3.744082 0.97462 0.98151 0.706548 0.9854754 0 0.9999971 TRUE 0.00041426 ENSE00002411516_013 ENSE00002411516 013 3 184024491 184024660 + 48 84 38 G C 184024574 3826 84 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATCGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306785 184306786 184306786 exon 36 0.4285714 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATCGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 712 1544 0.994717 0.9939361 0.9943265 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.04491244 0.04484068 0.9848299 0.94945 NA 0.04487656 NA FALSE NA 1 9.178 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:184306786 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 missense_variant 4.593445 0.98034 0.98514 0.706548 0.9950735 0 0.9999971 TRUE 4.06161e-06 ENSE00002411516_014 ENSE00002411516 014 3 184024491 184024660 + 48 84 38 G T 184024574 3827 84 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATTGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306785 184306786 184306786 exon 36 0.4285714 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATTGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 1350 1856 0.9984253 0.9867158 0.9925706 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.0486208 0.03762044 0.9848299 0.94945 NA 0.04312062 NA FALSE NA 1 9.178 NA NA NA PSMD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD2 NA NA NA ENSG00000175166 ENSE00003615646 missense_variant 4.698855 0.9801 0.98439 0.706548 0.9946992 0 0.9999971 TRUE 4.06161e-06 ENSE00002411516_016 ENSE00002411516 016 3 184024491 184024660 + 48 84 38 G C 184024583 3829 93 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGACATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306794 184306795 184306795 exon -40 0.5357143 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGACATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 669 311 0.9881062 1 0.9940531 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.03830168 0.05090461 0.9848299 0.94945 NA 0.04460315 NA FALSE NA 1 2.506 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA AGA G,C 3.295e-05 3:184306795 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 missense_variant 1.015732 0.95115 0.94557 0.706548 0.8369473 0 0.9999971 TRUE 1.62446e-05 ENSE00002411516_017 ENSE00002411516 017 3 184024491 184024660 + 48 84 38 T C 184024586 3830 96 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATCGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306797 184306798 184306798 exon -37 0.5714286 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATCGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 471 2516 0.988676 0.9613539 0.975015 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.03887151 0.01225848 0.9848299 0.94945 NA 0.02556499 NA FALSE NA 0.9 -0.088 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 rs368810091 1 NA C:0 C:0.0001 TTG T,C 8.236e-06 3:184306798 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 synonymous_variant 0.75869 0.92652 0.7888 0.706548 0.8806509 0 0.9999971 TRUE 2.03062e-05 ENSE00002411516_019 ENSE00002411516 019 3 184024491 184024660 + 48 84 38 C T 184024591 3832 101 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGTAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306802 184306803 184306803 exon -32 0.6309524 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGTAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 842 591 0.8233334 1 0.9116667 0.9783948 0.9912649 0.9498045 0.9490954 NA NA -0.1264712 0.05090461 0.9848299 0.94945 NA -0.03778328 NA FALSE NA 1 7.254 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA GCA C,T 1.647e-05 3:184306803 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 missense_variant 3.675929 0.96876 0.96897 0.706548 0.9973549 0 0.9999971 TRUE 8.12361e-06 ENSE00002411516_020 ENSE00002411516 020 3 184024491 184024660 + 48 84 38 A G 184024592 3833 102 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCGGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306803 184306804 184306804 exon -31 0.6428571 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCGGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 2172 1330 0.9890792 0.9959464 0.9925128 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.03927471 0.04685105 0.9848299 0.94945 NA 0.04306288 NA FALSE NA 0.336 -0.377 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA CAG A,G 8.236e-06 3:184306804 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 synonymous_variant 1.127449 0.43416 0.31271 0.706548 0.8030828 0 0.9999971 TRUE 4.06171e-06 ENSE00002411516_021 ENSE00002411516 021 3 184024491 184024660 + 48 84 38 C T 184024619 3834 129 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCATTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306830 184306831 184306831 exon -4 0.9642857 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCATTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 1049 1186 0.9998822 0.9997429 0.9998126 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.05007771 0.05064749 0.9848299 0.94945 NA 0.0503626 NA FALSE NA 0.999 0.768 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA ACT C,T 8.236e-06 3:184306831 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 synonymous_variant 1.218975 0.9251 0.85523 0.706548 0.6876801 0 0.9999971 TRUE 4.06326e-06 ENSE00002411516_022 ENSE00002411516 022 3 184024491 184024660 + 48 84 38 T C 184024630 3835 140 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTACAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306841 184306842 184306842 downstr_intron 8 1.216216 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTACAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 751 576 0.9894004 0.8355065 0.9124535 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.03959585 -0.1135889 0.9848299 0.94945 NA -0.0369965 NA FALSE NA 0 -0.293 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA ATA T,C 8.236e-06 3:184306842 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 splice_region_variant 0.84044 0.28059 0.08391 0.295142 0.8337874 0.154206 0.9999971 TRUE 4.10159e-06 ENSE00002411516_023 ENSE00002411516 023 3 184024491 184024660 + 48 84 38 G A 184024636 3836 146 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATAAAGAAAATTGGAATATACTGGTTT 184306702 184306872 184306847 184306848 184306848 downstr_intron 14 1.378378 TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATAAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT mutant NA NA NA NA NA 1238 916 0.9982585 0.8680975 0.933178 0.9783948 0.9912649 0.9498045 0.9490954 NA NA 0.04845395 -0.08099786 0.9848299 0.94945 NA -0.01627195 NA FALSE NA 0.007 -0.266 . downstream_gene_variant MODIFIER PSMD2 HGNC 9559 ENST00000417952 1 NA TGA G,A 8.236e-06 3:184306848 PSMD2 HGNC Symbol protein_coding 10345 ENSG00000175166 ENSE00003615646 intron_variant 1.466451 0.37743 0.04479 0.295142 0.8017775 0.140341 0.9999971 TRUE 4.31239e-06 ENSE00002411516_BRK ENSE00002411516 BRK 3 184024491 184024660 + 48 84 38 A,G; T,T NA NA NA TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCTTGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGCCGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT 184306702 184306872 NA NA NA NA NA NA TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCTTGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGCCGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT TTTTTTATTCCTTGAGCTTAATGGGTTCTGCTCTCTCTTCAATTGCAGGGAGTGGCTGTTCTGGGGATTGCCCTTATTGCTATGGGGGAGGAGATTGGTGCAGAGATGGCATTACGAACCTTTGGCCACTTGGTGAGTATAGCATGAAGAAAATTGGAATATACTGGTTT control NA NA NA NA NA 811 169 0 0.001898452 0.000949226 0.9783948 0.9912649 0.9498045 0.9490954 NA NA -0.9498045 -0.9471969 0.9848299 0.94945 NA -0.9485007 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSMD2 NA NA NA ENSG00000175166 ENSE00003615646 NA NA NA NA NA NA NA 0.9999971 TRUE NA ENSE00002411726_000 ENSE00002411726 000 21 47965744 47965913 + 50 81 39 NA NA NA NA NA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 NA NA NA NA NA NA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA natural NA NA NA NA NA 2154 199 0.9949899 0.9901052 0.9925475 NA NA 0.9949899 0.9901052 NA NA 0 0 NA 0.9925475 NA 0 NA FALSE NA NA NA NA NA NA DIP2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DIP2A NA NA NA ENSG00000160305 ENSE00003562990 NA NA NA NA NA NA NA 0.7260991 FALSE NA ENSE00002411726_001 ENSE00002411726 001 21 47965744 47965913 + 50 81 39 C T 47965758 603 15 AGTTGGTTGGTTGTTCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545844 46545845 46545845 upstr_intron -36 -0.7 AGTTGGTTGGTTGTTCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 43 399 1 1 1 NA NA 0.9949899 0.9901052 NA NA 0.005010081 0.009894843 NA 0.9925475 NA 0.007452462 NA FALSE NA 0 1.407 . intron_variant MODIFIER DIP2A HGNC 17217 ENST00000427143 17/27 1 NA TCC C,T 8.26e-06 21:46545845 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 intron_variant 0.320766 0.23639 0.15341 0.295142 0.5914512 0.113038 0.7260991 FALSE 4.09457e-06 ENSE00002411726_002 ENSE00002411726 002 21 47965744 47965913 + 50 81 39 C T 47965759 604 16 AGTTGGTTGGTTGTCTACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545845 46545846 46545846 upstr_intron -35 -0.68 AGTTGGTTGGTTGTCTACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 166 258 1 1 1 NA NA 0.9949899 0.9901052 NA NA 0.005010081 0.009894843 NA 0.9925475 NA 0.007452462 NA FALSE NA 0 0.057 . intron_variant MODIFIER DIP2A HGNC 17217 ENST00000427143 17/27 1 NA CCA C,T 8.26e-06 21:46545846 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 intron_variant 0.088726 0.24325 0.11359 0.295142 0.7155441 0.113038 0.7260991 FALSE 4.09353e-06 ENSE00002411726_003 ENSE00002411726 003 21 47965744 47965913 + 50 81 39 T G 47965766 605 23 AGTTGGTTGGTTGTCCACAGCCGGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545852 46545853 46545853 upstr_intron -28 -0.54 AGTTGGTTGGTTGTCCACAGCCGGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 14 164 0.8 0.8 0.8 NA NA 0.9949899 0.9901052 NA NA -0.1949899 -0.1901052 NA 0.9925475 NA -0.1925475 NA FALSE NA 0.281 1.278 rs144135274 intron_variant MODIFIER DIP2A HGNC 17217 ENST00000427143 17/27 rs144135274 1 G:0.0046 G:0.0174 G:0 NA G:0 G:0 G:0 G:0.0129 G:0 CTG T,G 0.001049 21:46545853 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 intron_variant 0.417434 0.53564 0.37527 0.156188 0.694109 0.152831 0.7260991 FALSE 0.000914428 ENSE00002411726_006 ENSE00002411726 006 21 47965744 47965913 + 50 81 39 G T 47965771 608 28 AGTTGGTTGGTTGTCCACAGCCTGATCTTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545857 46545858 46545858 upstr_intron -23 -0.44 AGTTGGTTGGTTGTCCACAGCCTGATCTTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 84 82 0.9634037 1 0.9817018 NA NA 0.9949899 0.9901052 NA NA -0.03158622 0.009894843 NA 0.9925475 NA -0.01084569 NA FALSE NA 0 -2.411 NA NA NA DIP2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:46545858 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 intron_variant 0.099504 0.32718 0.13956 0.156188 0.8042387 0.152831 0.7260991 FALSE 8.15514e-06 ENSE00002411726_007 ENSE00002411726 007 21 47965744 47965913 + 50 81 39 C T 47965776 609 33 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCTCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545862 46545863 46545863 upstr_intron -18 -0.34 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCTCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 933 74 1 1 1 NA NA 0.9949899 0.9901052 NA NA 0.005010081 0.009894843 NA 0.9925475 NA 0.007452462 NA FALSE NA 0 0.052 . intron_variant MODIFIER DIP2A HGNC 17217 ENST00000427143 17/27 1 NA CCC C,T 8.261e-06 21:46545863 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 intron_variant 0.530044 0.25968 0.1305 0.156188 0.6400171 0.152831 0.7260991 FALSE 4.07169e-06 ENSE00002411726_008 ENSE00002411726 008 21 47965744 47965913 + 50 81 39 C G 47965779 610 36 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTGTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545865 46545866 46545866 upstr_intron -15 -0.28 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTGTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 16 695 1 0.998004 0.999002 NA NA 0.9949899 0.9901052 NA NA 0.005010081 0.007898867 NA 0.9925475 NA 0.006454474 NA FALSE NA 0 0.081 . intron_variant MODIFIER DIP2A HGNC 17217 ENST00000427143 17/27 1 NA TCT C,G 8.261e-06 21:46545866 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 intron_variant 0.205228 0.22344 0.1395 0.156188 0.6544375 0.152831 0.7260991 FALSE 1.22089e-05 ENSE00002411726_009 ENSE00002411726 009 21 47965744 47965913 + 50 81 39 G A 47965794 611 51 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGACAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545880 46545881 46545881 exon 1 0.01234568 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGACAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 32 453 0.9960768 0.9992284 0.9976526 NA NA 0.9949899 0.9901052 NA NA 0.001086887 0.00912328 NA 0.9925475 NA 0.005105084 NA FALSE NA 0.859 1.162 . missense_variant&splice_region_variant MODERATE DIP2A HGNC 17217 ENST00000427143 18/28 1 benign(0.001) NA GGC G,A 8.261e-06 21:46545881 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 missense_variant 0.997859 0.89233 0.15199 0.736574 0.857785 0 0.7260991 FALSE NA ENSE00002411726_012 ENSE00002411726 012 21 47965744 47965913 + 50 81 39 G A 47965803 614 60 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGATCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545889 46545890 46545890 exon 10 0.1234568 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGATCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 41 90 0.9514739 0.9929343 0.9722041 NA NA 0.9949899 0.9901052 NA NA -0.04351598 0.002829171 NA 0.9925475 NA -0.0203434 NA FALSE NA 0.546 1.326 NA NA NA DIP2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 21:46545890 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 missense_variant -0.53324 0.27507 0.69104 0.706548 0.8365095 0 0.7260991 FALSE 8.12968e-06 ENSE00002411726_014 ENSE00002411726 014 21 47965744 47965913 + 50 81 39 C T 47965808 616 65 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACTACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545894 46545895 46545895 exon 15 0.1851852 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACTACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 1920 522 0.9760085 0.9999271 0.9879678 NA NA 0.9949899 0.9901052 NA NA -0.01898147 0.009821904 NA 0.9925475 NA -0.004579781 NA FALSE NA 0 -6.067 . synonymous_variant LOW DIP2A HGNC 17217 ENST00000427143 18/28 1 NA CCA C,T 8.261e-06 21:46545895 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 synonymous_variant 0.144649 0.11687 0.02531 0.706548 0.6589997 0 0.7260991 FALSE 1.21895e-05 ENSE00002411726_016 ENSE00002411726 016 21 47965744 47965913 + 50 81 39 G A 47965818 618 75 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAACACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545904 46545905 46545905 exon 25 0.308642 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAACACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 744 70 0.9977098 1 0.9988549 NA NA 0.9949899 0.9901052 NA NA 0.002719897 0.009894843 NA 0.9925475 NA 0.00630737 NA FALSE NA 0 -1.701 . missense_variant MODERATE DIP2A HGNC 17217 ENST00000427143 18/28 rs375140780 1 benign(0.002) A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 AGC G,A 4.957e-05 21:46545905 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 missense_variant -1.057663 0.25229 0.14776 0.706548 0.6755589 0 0.7260991 FALSE 6.90597e-05 ENSE00002411726_018 ENSE00002411726 018 21 47965744 47965913 + 50 81 39 T G 47965840 620 97 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATGCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545926 46545927 46545927 exon -35 0.5802469 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATGCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 25 128 1 1 1 NA NA 0.9949899 0.9901052 NA NA 0.005010081 0.009894843 NA 0.9925475 NA 0.007452462 NA FALSE NA 1 7.508 . missense_variant MODERATE DIP2A HGNC 17217 ENST00000427143 18/28 1 probably_damaging(0.987) NA TTC T,G 8.263e-06 21:46545927 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 missense_variant 6.132437 0.96406 0.97526 0.706548 0.9935619 0 0.7260991 FALSE 4.06174e-06 ENSE00002411726_021 ENSE00002411726 021 21 47965744 47965913 + 50 81 39 G A 47965860 623 117 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGAGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545946 46545947 46545947 exon -15 0.8271605 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGAGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 262 1636 0.9887834 0.9960823 0.9924328 NA NA 0.9949899 0.9901052 NA NA -0.006206558 0.005977132 NA 0.9925475 NA -0.0001147126 NA FALSE NA 1 9.204 . missense_variant MODERATE DIP2A HGNC 17217 ENST00000427143 18/28 1 probably_damaging(0.974) NA GGG G,A 8.261e-06 21:46545947 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 missense_variant 6.850098 0.97026 0.98062 0.706548 0.9988937 0 0.7260991 FALSE 4.06167e-06 ENSE00002411726_023 ENSE00002411726 023 21 47965744 47965913 + 50 81 39 C T 47965862 625 119 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGTTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545948 46545949 46545949 exon -13 0.8518519 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGTTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 85 335 0.9166897 1 0.9583448 NA NA 0.9949899 0.9901052 NA NA -0.07830023 0.009894843 NA 0.9925475 NA -0.03420269 NA FALSE NA 0.327 -0.133 . synonymous_variant LOW DIP2A HGNC 17217 ENST00000427143 18/28 1 NA GCT C,T 8.261e-06 21:46545949 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 synonymous_variant 1.696447 0.90954 0.6207 0.706548 0.6865666 0 0.7260991 FALSE 1.21848e-05 ENSE00002411726_025 ENSE00002411726 025 21 47965744 47965913 + 50 81 39 C T 47965868 627 125 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATTGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545954 46545955 46545955 exon -7 0.9259259 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATTGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 704 122 0.9985294 1 0.9992647 NA NA 0.9949899 0.9901052 NA NA 0.003539433 0.009894843 NA 0.9925475 NA 0.006717138 NA FALSE NA 0 -2.963 . synonymous_variant LOW DIP2A HGNC 17217 ENST00000427143 18/28 rs201630699 1 T:0.0018 T:0.0045 T:0.0014 NA T:0 T:0.001 T:0.001 T:0.0036 T:0 TCG C,T 0.0008591 21:46545955 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 synonymous_variant 2.373084 0.51308 0.06626 0.706548 0.7946304 0 0.7260991 FALSE 0.00110071 ENSE00002411726_028 ENSE00002411726 028 21 47965744 47965913 + 50 81 39 C T 47965873 630 130 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCTTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545959 46545960 46545960 exon -2 0.9876543 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCTTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 63 39 1 1 1 NA NA 0.9949899 0.9901052 NA NA 0.005010081 0.009894843 NA 0.9925475 NA 0.007452462 NA FALSE NA 1 7.102 rs144400668 missense_variant&splice_region_variant MODERATE DIP2A HGNC 17217 ENST00000427143 18/28 rs144400668 1 possibly_damaging(0.452) T:0.0042 T:0.0023 T:0.0029 NA T:0 T:0.0099 T:0.0061 T:0.0033 T:0.0114 CCT C,T 0.005856 21:46545960 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 missense_variant 5.283415 0.96734 0.97847 0.706548 0.9987343 0 0.7260991 FALSE 0.0061777 ENSE00002411726_029 ENSE00002411726 029 21 47965744 47965913 + 50 81 39 G A 47965877 631 134 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTAAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545963 46545964 46545964 downstr_intron 3 1.078947 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTAAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 327 397 1 0.9919478 0.9959739 NA NA 0.9949899 0.9901052 NA NA 0.005010081 0.001842629 NA 0.9925475 NA 0.003426355 NA FALSE NA 1 1.598 . splice_region_variant&intron_variant LOW DIP2A HGNC 17217 ENST00000427143 18/27 1 NA TGA G,A 8.258e-06 21:46545964 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 splice_region_variant 1.843476 0.91207 0.52646 0.156188 0.8384831 0.515517 0.7260991 FALSE 8.12334e-06 ENSE00002411726_030 ENSE00002411726 030 21 47965744 47965913 + 50 81 39 A G 47965878 632 135 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGGGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA 46545830 46546000 46545964 46545965 46545965 downstr_intron 4 1.105263 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGGGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 111 57 0.9605375 0.9472679 0.9539027 NA NA 0.9949899 0.9901052 NA NA -0.03445239 -0.0428373 NA 0.9925475 NA -0.03864484 NA FALSE NA 1 1.382 . splice_region_variant&intron_variant LOW DIP2A HGNC 17217 ENST00000427143 18/27 1 NA GAG A,G 8.258e-06 21:46545965 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 splice_region_variant 1.958934 0.94523 0.81318 0.156188 0.9728257 0.869699 0.7260991 FALSE 4.06138e-06 ENSE00002411726_033 ENSE00002411726 033 21 47965744 47965913 + 50 81 39 C T 47965900 635 157 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCATTGGCAGTCAGAGA 46545830 46546000 46545986 46545987 46545987 downstr_intron 26 1.684211 AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCATTGGCAGTCAGAGA AGTTGGTTGGTTGTCCACAGCCTGATCGTGCCCCTCTCCACTTTGTGCAGGCAGTTCCGGTCACCACAGGAGGAGCACCCATCTTTGACAGGCCATTCACCAGGACAGGCCTGCTGGGCTTCATCGGGCCTGTGAGTATGTCCTCCTGTACCAGCACTGGCAGTCAGAGA mutant NA NA NA NA NA 627 232 0.997054 0.9993177 0.9981859 NA NA 0.9949899 0.9901052 NA NA 0.002064123 0.00921254 NA 0.9925475 NA 0.005638331 NA FALSE NA 0 -0.046 . intron_variant MODIFIER DIP2A HGNC 17217 ENST00000427143 18/27 1 NA ACT C,T 8.259e-06 21:46545987 DIP2A HGNC Symbol protein_coding 110953 ENSG00000160305 ENSE00003562990 non_coding_transcript_exon_variant 0.311894 0.36519 0.06189 0.156188 0.5917006 0.584994 0.7260991 FALSE 8.12519e-06 ENSE00002412190_000 ENSE00002412190 000 7 151483512 151483681 - 44 72 54 NA NA NA NA NA GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 NA NA NA NA NA NA GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG natural 61 37 0.99678 0.9948997 0.9958399 556 2008 0.9753153 0.9372659 0.9562906 0.99678 0.9948997 0.9753153 0.9372659 0 0 0 0 0.9958399 0.9562906 0 0 0 FALSE FALSE NA NA NA NA NA PRKAG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKAG2 NA NA NA ENSG00000106617 ENSE00003517433 NA NA NA NA NA NA NA 0.9775574 TRUE NA ENSE00002412190_001 ENSE00002412190 001 7 151483512 151483681 - 44 72 54 A T 151483530 3169 152 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCACACAGCTCACTTGAGGTG 151786425 151786595 151786443 151786444 151786444 downstr_intron 26 1.604651 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCACACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 672 178 0.9997719 1 0.9998859 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02445659 0.06273413 0.9958399 0.9562906 NA 0.04359536 NA FALSE NA 0.513 1.056 . intron_variant MODIFIER PRKAG2 HGNC 9386 ENST00000287878 2/15 1 NA GAG A,T 8.241e-06 7:151786444 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 intron_variant 0.055344 0.21417 0.17678 0.053691 0.8510823 0.0600639 0.9775574 TRUE NA ENSE00002412190_002 ENSE00002412190 002 7 151483512 151483681 - 44 72 54 T G 151483536 3170 146 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGACGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786449 151786450 151786450 downstr_intron 20 1.465116 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGACGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 138 571 1 0.9800623 0.9900311 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.04279641 0.9958399 0.9562906 NA 0.03374056 NA FALSE NA 0.007 -0.199 . intron_variant MODIFIER PRKAG2 HGNC 9386 ENST00000287878 2/15 1 NA CTT T,G 8.239e-06 7:151786450 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 intron_variant 0.266576 0.3111 0.13469 0.053691 0.4616933 0.0591979 0.9775574 TRUE 4.34597e-06 ENSE00002412190_003 ENSE00002412190 003 7 151483512 151483681 - 44 72 54 A G 151483544 3171 138 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCCTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786457 151786458 151786458 downstr_intron 12 1.27907 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCCTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 18 396 1 0.9999038 0.9999519 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.06263797 0.9958399 0.9562906 NA 0.04366134 NA FALSE NA 0.001 0.258 . intron_variant MODIFIER PRKAG2 HGNC 9386 ENST00000287878 2/15 rs374155169 1 NA G:0.0002 G:0 AAG A,G 8.238e-06 7:151786458 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 intron_variant 0.125802 0.23852 0.07048 0.053691 0.410145 0.0591979 0.9775574 TRUE NA ENSE00002412190_004 ENSE00002412190 004 7 151483512 151483681 - 44 72 54 G C 151483546 3172 136 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTGCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786459 151786460 151786460 downstr_intron 10 1.232558 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTGCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 579 25 0.9981421 0.95 0.9740711 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02282684 0.01273413 0.9958399 0.9562906 NA 0.01778049 NA FALSE NA 0.018 1.594 . intron_variant MODIFIER PRKAG2 HGNC 9386 ENST00000287878 2/15 1 NA GGA G,C 2.471e-05 7:151786460 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 intron_variant -0.04733 0.26503 0.2512 0.053691 0.4808571 0.0448725 0.9775574 TRUE 8.45666e-06 ENSE00002412190_007 ENSE00002412190 007 7 151483512 151483681 - 44 72 54 C T 151483576 3175 106 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCAGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786489 151786490 151786490 exon -21 0.7222222 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCAGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 206 415 1 0.995279 0.9976395 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.05801312 0.9958399 0.9562906 NA 0.04134892 NA FALSE NA 0.98 4.592 . missense_variant MODERATE PRKAG2 HGNC 9386 ENST00000287878 2/16 rs397517266 1 tolerated_low_confidence(0.07) benign(0.001) NA CCG C,T 4.118e-05 7:151786490 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 missense_variant 2.616621 0.90394 0.8216 0.554377 0.9946378 0 0.9775574 TRUE 7.40911e-05 ENSE00002412190_008 ENSE00002412190 008 7 151483512 151483681 - 44 72 54 G A 151483577 3176 105 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCTGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786490 151786491 151786491 exon -22 0.7083333 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCTGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 11 32 1 0.9950252 0.9975126 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.05775936 0.9958399 0.9562906 NA 0.04122203 NA FALSE NA 0.006 -1.675 . synonymous_variant LOW PRKAG2 HGNC 9386 ENST00000287878 2/16 rs202056358 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 2.471e-05 7:151786491 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 synonymous_variant 0.644293 0.19347 0.03135 0.554377 0.5499995 0 0.9775574 TRUE 2.05648e-05 ENSE00002412190_009 ENSE00002412190 009 7 151483512 151483681 - 44 72 54 C G 151483591 3177 91 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGACACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786504 151786505 151786505 exon -36 0.5138889 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGACACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 47 1477 1 1 1 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.06273413 0.9958399 0.9562906 NA 0.04370942 NA FALSE NA 1 4.592 . missense_variant MODERATE PRKAG2 HGNC 9386 ENST00000287878 2/16 1 deleterious_low_confidence(0.01) possibly_damaging(0.8) NA TCT C,G 8.237e-06 7:151786505 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 missense_variant 5.965189 0.95098 0.86871 0.554377 0.9943327 0 0.9775574 TRUE 4.10512e-06 ENSE00002412190_010 ENSE00002412190 010 7 151483512 151483681 - 44 72 54 G A 151483595 3178 87 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGATGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786508 151786509 151786509 exon 33 0.4583333 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGATGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 143 260 1 1 1 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.06273413 0.9958399 0.9562906 NA 0.04370942 NA FALSE NA 0.951 -0.042 . synonymous_variant LOW PRKAG2 HGNC 9386 ENST00000287878 2/16 1 NA CGT G,A 4.942e-05 7:151786509 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 synonymous_variant 0.766003 0.82588 0.147 0.554377 0.7346157 0 0.9775574 TRUE 4.51782e-05 ENSE00002412190_011 ENSE00002412190 011 7 151483512 151483681 - 44 72 54 C A 151483604 3179 78 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCTCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786517 151786518 151786518 exon 24 0.3333333 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCTCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 881 70 1 1 1 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.06273413 0.9958399 0.9562906 NA 0.04370942 NA FALSE NA 0 -3.61 NA NA NA PRKAG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:151786518 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 synonymous_variant 3.145674 0.24956 0.0363 0.554377 0.7797305 0 0.9775574 TRUE 4.10792e-06 ENSE00002412190_013 ENSE00002412190 013 7 151483512 151483681 - 44 72 54 G T 151483605 3181 77 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCAGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786518 151786519 151786519 exon 23 0.3194444 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCAGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 34 94 1 1 1 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.06273413 0.9958399 0.9562906 NA 0.04370942 NA FALSE NA 1 5.744 . missense_variant MODERATE PRKAG2 HGNC 9386 ENST00000287878 2/16 rs373477232 1 deleterious_low_confidence(0) possibly_damaging(0.901) NA A:0.0002 A:0 CGG G,T 8.236e-06 7:151786519 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 missense_variant 6.56632 0.95122 0.89044 0.554377 0.9908352 0 0.9775574 TRUE 1.6436e-05 ENSE00002412190_015 ENSE00002412190 015 7 151483512 151483681 - 44 72 54 T C 151483609 3183 73 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCGTGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786522 151786523 151786523 exon 19 0.2638889 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCGTGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 38 829 1 0.9449132 0.9724566 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.007647345 0.9958399 0.9562906 NA 0.01616603 NA FALSE NA 1 4.717 . missense_variant MODERATE PRKAG2 HGNC 9386 ENST00000287878 2/16 1 deleterious_low_confidence(0.03) benign(0.184) NA ATG T,C 8.236e-06 7:151786523 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 start_lost 2.277699 0.94437 0.84512 0.554377 0.9905154 0 0.9775574 TRUE NA ENSE00002412190_016 ENSE00002412190 016 7 151483512 151483681 - 44 72 54 G A 151483610 3184 72 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCTATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786523 151786524 151786524 exon 18 0.25 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCTATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 797 518 0.9993268 1 0.9996634 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02401151 0.06273413 0.9958399 0.9562906 NA 0.04337282 NA FALSE NA 1 5.744 . synonymous_variant LOW PRKAG2 HGNC 9386 ENST00000287878 2/16 1 NA TGG G,A 8.236e-06 7:151786524 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 synonymous_variant 1.716811 0.95116 0.8794 0.554377 0.8076359 0 0.9775574 TRUE 4.11353e-06 ENSE00002412190_017 ENSE00002412190 017 7 151483512 151483681 - 44 72 54 G A 151483611 3185 71 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGTCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786524 151786525 151786525 exon 17 0.2361111 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGTCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 16 52 1 0.9116846 0.9558423 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 -0.02558131 0.9958399 0.9562906 NA -0.0004483044 NA FALSE NA 1 5.744 . missense_variant MODERATE PRKAG2 HGNC 9386 ENST00000287878 2/16 COSM3366867 1 deleterious_low_confidence(0.01) possibly_damaging(0.477) NA GGC G,A 8.236e-06 7:151786525 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 missense_variant 6.503567 0.95116 0.8794 0.554377 0.9983834 0 0.9775574 TRUE 8.22964e-06 ENSE00002412190_019 ENSE00002412190 019 7 151483512 151483681 - 44 72 54 G A 151483613 3187 69 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTTGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786526 151786527 151786527 exon 15 0.2083333 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTTGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 3115 1444 0.9996899 0.9974235 0.9985567 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02437461 0.06015762 0.9958399 0.9562906 NA 0.04226611 NA FALSE NA 0.983 0.278 . synonymous_variant LOW PRKAG2 HGNC 9386 ENST00000287878 2/16 COSM1087463 1 NA CGA G,A 1.647e-05 7:151786527 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 synonymous_variant 1.607765 0.8132 0.10898 0.554377 0.8523503 0 0.9775574 TRUE NA ENSE00002412190_020 ENSE00002412190 020 7 151483512 151483681 - 44 72 54 G A 151483619 3188 63 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGTTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786532 151786533 151786533 exon 9 0.125 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGTTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 736 921 0.9983671 1 0.9991835 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02305179 0.06273413 0.9958399 0.9562906 NA 0.04289296 NA FALSE NA 0.999 0.206 . synonymous_variant LOW PRKAG2 HGNC 9386 ENST00000287878 2/16 rs397517263&COSM4161989 1 NA AGC G,A 0.0001565 7:151786533 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 synonymous_variant 1.152571 0.83394 0.32102 0.554377 0.8213968 0 0.9775574 TRUE 0.000165147 ENSE00002412190_021 ENSE00002412190 021 7 151483512 151483681 - 44 72 54 C T 151483620 3189 62 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAACTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786533 151786534 151786534 exon 8 0.1111111 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAACTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 12 173 1 1 1 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.06273413 0.9958399 0.9562906 NA 0.04370942 NA FALSE NA 1 4.592 . missense_variant MODERATE PRKAG2 HGNC 9386 ENST00000287878 2/16 1 deleterious_low_confidence(0.01) benign(0.4) NA GCT C,T 8.237e-06 7:151786534 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 missense_variant 3.485598 0.95015 0.84988 0.554377 0.9934635 0 0.9775574 TRUE 8.26016e-06 ENSE00002412190_022 ENSE00002412190 022 7 151483512 151483681 - 44 72 54 C T 151483622 3190 60 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTAAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786535 151786536 151786536 exon 6 0.08333333 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTAAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 123 186 1 1 1 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.06273413 0.9958399 0.9562906 NA 0.04370942 NA FALSE NA 1 1.046 . synonymous_variant LOW PRKAG2 HGNC 9386 ENST00000287878 2/16 1 NA TCA C,T 8.237e-06 7:151786536 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 synonymous_variant 1.605848 0.91273 0.57268 0.554377 0.7437664 0 0.9775574 TRUE 4.13387e-06 ENSE00002412190_023 ENSE00002412190 023 7 151483512 151483681 - 44 72 54 A T 151483623 3191 59 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCAGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786536 151786537 151786537 exon 5 0.06944444 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCAGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 96 455 1 0.9977952 0.9988976 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02468471 0.06052937 0.9958399 0.9562906 NA 0.04260704 NA FALSE NA 1 5.45 rs139653890 missense_variant MODERATE PRKAG2 HGNC 9386 ENST00000287878 2/16 rs139653890 1 deleterious_low_confidence(0.01) possibly_damaging(0.716) NA T:0 T:0.0001 CAG A,T 8.237e-06 7:151786537 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 missense_variant 5.575947 0.94848 0.88567 0.554377 0.995648 0 0.9775574 TRUE NA ENSE00002412190_024 ENSE00002412190 024 7 151483512 151483681 - 44 72 54 G A 151483636 3192 46 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTTCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786549 151786550 151786550 upstr_intron -9 -0.1481481 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTTCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 474 226 0.9989535 0.9850465 0.992 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02363816 0.04778062 0.9958399 0.9562906 NA 0.03570939 NA FALSE NA 0 -0.294 . intron_variant MODIFIER PRKAG2 HGNC 9386 ENST00000287878 1/15 1 NA GGA G,A 3.295e-05 7:151786550 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 intron_variant -0.045947 0.16439 0.05956 0.06567 0.4651684 0.046323 0.9775574 TRUE 1.67743e-05 ENSE00002412190_026 ENSE00002412190 026 7 151483512 151483681 - 44 72 54 G A 151483648 3194 34 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCATGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786561 151786562 151786562 upstr_intron -21 -0.3703704 GCCCCTGGGCCCGAGGGCCACTGTCACTGACCATGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 2474 715 0.998648 0.9997787 0.9992134 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02333273 0.06251287 0.9958399 0.9562906 NA 0.0429228 NA FALSE NA 0 -1.157 . intron_variant MODIFIER PRKAG2 HGNC 9386 ENST00000287878 1/15 1 NA CGT G,A 3.295e-05 7:151786562 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 intron_variant -0.033833 0.16333 0.01198 0.06567 0.7299289 0.046323 0.9775574 TRUE 2.14432e-05 ENSE00002412190_027 ENSE00002412190 027 7 151483512 151483681 - 44 72 54 G A 151483651 3195 31 GCCCCTGGGCCCGAGGGCCACTGTCACTGATCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 151786564 151786565 151786565 upstr_intron -24 -0.4259259 GCCCCTGGGCCCGAGGGCCACTGTCACTGATCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG mutant NA NA NA NA NA 699 561 0.9961602 1 0.9980801 0.99678 0.9948997 0.9753153 0.9372659 NA NA 0.02084489 0.06273413 0.9958399 0.9562906 NA 0.04178951 NA FALSE NA 0.823 1.815 . intron_variant MODIFIER PRKAG2 HGNC 9386 ENST00000287878 1/15 1 NA GGT G,A 8.24e-06 7:151786565 PRKAG2 HGNC Symbol protein_coding 321014 ENSG00000106617 ENSE00003517433 intron_variant 0.094207 0.23014 0.47416 0.06567 0.8612411 0.046323 0.9775574 TRUE NA ENSE00002412190_BRK ENSE00002412190 BRK 7 151483512 151483681 - 44 72 54 A,G; T,T NA NA NA GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTTTGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGCCAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG 151786425 151786595 NA NA NA NA NA NA GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTTTGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGCCAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG GCCCCTGGGCCCGAGGGCCACTGTCACTGACCACGTGCTCTCTGTCCACCCTAGGACCTGAGCTCCTTCGCCATGCCGCTCCTGGACGGAGACCTGGAGGGTTCCGGAAAGCATTCCTCTCGAAAGGTAAGACCTCCTTTCCAGAAGTTTCTCACAGCTCACTTGAGGTG control NA NA NA NA NA 25 189 0 0 0 0.99678 0.9948997 0.9753153 0.9372659 NA NA -0.9753153 -0.9372659 0.9958399 0.9562906 NA -0.9562906 NA TRUE NA NA NA NA NA NA PRKAG2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKAG2 NA NA NA ENSG00000106617 ENSE00003517433 NA NA NA NA NA NA NA 0.9775574 TRUE NA ENSE00002412232_000 ENSE00002412232 000 5 140070405 140070574 - 35 90 45 NA NA NA NA NA ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 NA NA NA NA NA NA GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT natural 74 61 0.7302746 0.8136703 0.7719725 3472 3509 0.9533413 0.925006 0.9391736 0.7302746 0.8136703 0.9533413 0.925006 0 0 0 0 0.7719725 0.9391736 0 0 0 FALSE FALSE NA NA NA NA NA HARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HARS NA NA NA ENSG00000170445 ENSE00003645889 NA NA NA NA NA NA NA 0.0007360509 FALSE NA ENSE00002412232_001 ENSE00002412232 001 5 140070405 140070574 - 35 90 45 G A 140070417 1361 158 ACTTTCTCAGTGACTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690831 140690832 140690832 downstr_intron 23 1.676471 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGTCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 1326 200 0.8335364 0.6863241 0.7599302 0.7302746 0.8136703 0.9533413 0.925006 NA NA -0.1198049 -0.2386819 0.7719725 0.9391736 NA -0.1792434 NA FALSE NA 0 0.406 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA GGC G,A 8.236e-06 5:140690832 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 intron_variant 2.19007 0.23225 0.03047 0.08998 0.8562326 0.219821 0.0007360509 FALSE 1.21886e-05 ENSE00002412232_002 ENSE00002412232 002 5 140070405 140070574 - 35 90 45 C G 140070420 1362 155 ACTTTCTCAGTGGCTGCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690834 140690835 140690835 downstr_intron 20 1.588235 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGCAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 594 1587 0.9552385 0.9609793 0.9581089 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.001897204 0.03597331 0.7719725 0.9391736 NA 0.01893525 NA FALSE NA 0 -0.865 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:140690835 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 intron_variant 2.396641 0.25381 0.04536 0.08998 0.7841947 0.219821 0.0007360509 FALSE 4.06237e-06 ENSE00002412232_003 ENSE00002412232 003 5 140070405 140070574 - 35 90 45 C T 140070420 1363 155 ACTTTCTCAGTGGCTTCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690834 140690835 140690835 downstr_intron 20 1.588235 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGAAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 333 899 0.9858405 0.9793343 0.9825874 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.03249919 0.05432824 0.7719725 0.9391736 NA 0.04341372 NA FALSE NA 0 -0.865 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HARS NA NA NA ENSG00000170445 ENSE00003645889 intron_variant 2.574106 0.23582 0.04205 0.08998 0.8420281 0.219821 0.0007360509 FALSE 8.12473e-06 ENSE00002412232_005 ENSE00002412232 005 5 140070405 140070574 - 35 90 45 G T 140070446 1365 129 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGTGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690860 140690861 140690861 exon -7 0.9333333 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACACCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 192 435 0.9989854 0.9869864 0.9929859 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.04564411 0.06198043 0.7719725 0.9391736 NA 0.05381227 NA FALSE NA 0.981 0.073 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:140690861 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 synonymous_variant 1.01847 0.57672 0.43113 0.542737 0.7788254 0 0.0007360509 FALSE 4.06065e-06 ENSE00002412232_006 ENSE00002412232 006 5 140070405 140070574 - 35 90 45 G A 140070446 1366 129 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGAGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690860 140690861 140690861 exon -7 0.9333333 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACTCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 83 369 0.9901817 0.9906075 0.9903946 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.03684043 0.06560153 0.7719725 0.9391736 NA 0.05122098 NA FALSE NA 0.981 0.073 NA NA NA HARS2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HARS NA NA NA ENSG00000170445 ENSE00003645889 synonymous_variant 1.216019 0.58025 0.51152 0.542737 0.8079574 0 0.0007360509 FALSE 4.06065e-06 ENSE00002412232_007 ENSE00002412232 007 5 140070405 140070574 - 35 90 45 T C 140070448 1367 127 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGCTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690862 140690863 140690863 exon -9 0.9111111 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAGCCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 101 497 0.95 0.9675033 0.9587517 0.7302746 0.8136703 0.9533413 0.925006 NA NA -0.00334127 0.0424973 0.7719725 0.9391736 NA 0.01957802 NA FALSE NA 1 6.594 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 COSM1433656&COSM1433657 1 NA GTT T,C 8.236e-06 5:140690863 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 missense_variant 5.873392 0.96475 0.96413 0.542737 0.9917352 0 0.0007360509 FALSE 4.06078e-06 ENSE00002412232_008 ENSE00002412232 008 5 140070405 140070574 - 35 90 45 T C 140070451 1368 124 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTCGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690865 140690866 140690866 exon -12 0.8777778 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCGAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 526 84 1 0.9761999 0.9881 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.04665873 0.05119392 0.7719725 0.9391736 NA 0.04892633 NA FALSE NA 1 6.594 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA TTG T,C 8.236e-06 5:140690866 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 missense_variant 6.541157 0.96475 0.96413 0.542737 0.9937026 0 0.0007360509 FALSE 4.06068e-06 ENSE00002412232_009 ENSE00002412232 009 5 140070405 140070574 - 35 90 45 C T 140070455 1369 120 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGTACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690869 140690870 140690870 exon -16 0.8333333 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTACTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 671 105 0.947324 0.9502341 0.948779 0.7302746 0.8136703 0.9533413 0.925006 NA NA -0.006017256 0.02522804 0.7719725 0.9391736 NA 0.009605394 NA FALSE NA 0.994 0.07 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA GCA C,T 8.236e-06 5:140690870 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 synonymous_variant 2.071829 0.8947 0.72789 0.542737 0.8636131 0 0.0007360509 FALSE 1.21822e-05 ENSE00002412232_010 ENSE00002412232 010 5 140070405 140070574 - 35 90 45 T G 140070465 1370 110 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCGGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690879 140690880 140690880 exon -26 0.7222222 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACCGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 81 228 1 1 1 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.04665873 0.07499399 0.7719725 0.9391736 NA 0.06082636 NA FALSE NA 1 3.068 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 rs201398055 1 G:0.0008 G:0 G:0 NA G:0 G:0 G:0.0041 G:0 G:0.0001 CTG T,G 0.0002059 5:140690880 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 missense_variant 2.320276 0.94767 0.85654 0.542737 0.9596968 0 0.0007360509 FALSE 0.00017867 ENSE00002412232_012 ENSE00002412232 012 5 140070405 140070574 - 35 90 45 A G 140070486 1372 89 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCGGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690900 140690901 140690901 exon 44 0.4888889 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCCGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 407 209 0.9945819 0.9951207 0.9948513 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.04124062 0.07011468 0.7719725 0.9391736 NA 0.05567765 NA FALSE NA 1 7.678 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA CAG A,G 2.471e-05 5:140690901 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 missense_variant 4.945097 0.96135 0.9826 0.542737 0.9991973 0 0.0007360509 FALSE 1.21824e-05 ENSE00002412232_013 ENSE00002412232 013 5 140070405 140070574 - 35 90 45 C T 140070488 1373 87 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGTTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690902 140690903 140690903 exon 42 0.4666667 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAACTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 125 191 0.9643031 0.9543776 0.9593404 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.01096183 0.02937164 0.7719725 0.9391736 NA 0.02016673 NA FALSE NA 1 2.243 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA GCT C,T 8.236e-06 5:140690903 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 synonymous_variant 1.433817 0.93882 0.89767 0.542737 0.9102566 0 0.0007360509 FALSE 8.12183e-06 ENSE00002412232_015 ENSE00002412232 015 5 140070405 140070574 - 35 90 45 T G 140070491 1375 84 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGGGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690905 140690906 140690906 exon 39 0.4333333 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCCCAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 167 31 0.8 0.8 0.8 0.7302746 0.8136703 0.9533413 0.925006 NA NA -0.1533413 -0.125006 0.7719725 0.9391736 NA -0.1391736 NA FALSE NA 0.311 -0.148 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA GTG T,G 8.236e-06 5:140690906 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 synonymous_variant 1.135607 0.89831 0.70036 0.542737 0.8169721 0 0.0007360509 FALSE 8.12176e-06 ENSE00002412232_016 ENSE00002412232 016 5 140070405 140070574 - 35 90 45 G A 140070505 1376 70 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAAGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690919 140690920 140690920 exon 25 0.2777778 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCTTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 1309 191 0.9698623 0.8575349 0.9136986 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.01652108 -0.06747115 0.7719725 0.9391736 NA -0.02547504 NA FALSE NA 1 2.755 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 rs201729757 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G,A 1.647e-05 5:140690920 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 synonymous_variant 1.123757 0.96589 0.88685 0.542737 0.8513236 0 0.0007360509 FALSE 8.12301e-06 ENSE00002412232_017 ENSE00002412232 017 5 140070405 140070574 - 35 90 45 C T 140070512 1377 63 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTTGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690926 140690927 140690927 exon 18 0.2 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCAAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 412 421 0.8846056 0.9098253 0.8972154 0.7302746 0.8136703 0.9533413 0.925006 NA NA -0.06873571 -0.01518071 0.7719725 0.9391736 NA -0.04195821 NA FALSE NA 0.127 -0.315 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA TCG C,T 8.236e-06 5:140690927 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 synonymous_variant 2.43988 0.91681 0.17204 0.542737 0.8451426 0 0.0007360509 FALSE 4.06194e-06 ENSE00002412232_018 ENSE00002412232 018 5 140070405 140070574 - 35 90 45 C T 140070517 1378 58 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCATCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690931 140690932 140690932 exon 13 0.1444444 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGATGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 1145 172 0.9917375 0.9997784 0.995758 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.03839622 0.07477242 0.7719725 0.9391736 NA 0.05658432 NA FALSE NA 0.998 4.501 rs144588417 upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 rs144588417 1 NA T:0 T:0.0001 ACC C,T 0.0001235 5:140690932 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 missense_variant 6.949096 0.98715 0.97171 0.542737 0.9989955 0 0.0007360509 FALSE 0.000121874 ENSE00002412232_021 ENSE00002412232 021 5 140070405 140070574 - 35 90 45 T C 140070533 1381 42 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGCGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690947 140690948 140690948 upstr_intron -4 -0.06666667 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCGCAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 1543 173 0.9467026 0.8741962 0.9104494 0.7302746 0.8136703 0.9533413 0.925006 NA NA -0.006638697 -0.05080981 0.7719725 0.9391736 NA -0.02872425 NA FALSE NA 0.123 0.176 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA GTG T,C 8.236e-06 5:140690948 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 splice_region_variant 1.736402 0.87089 0.33914 0.075627 0.8207644 0.538736 0.0007360509 FALSE 4.06583e-06 ENSE00002412232_022 ENSE00002412232 022 5 140070405 140070574 - 35 90 45 G T 140070539 1382 36 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGTAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690953 140690954 140690954 upstr_intron -10 -0.2 GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTACCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 281 835 0.8310872 0.9929265 0.9120069 0.7302746 0.8136703 0.9533413 0.925006 NA NA -0.1222541 0.06792049 0.7719725 0.9391736 NA -0.02716678 NA FALSE NA 0.185 0.8 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA GGA G,T 8.236e-06 5:140690954 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 intron_variant 1.17374 0.47858 0.33417 0.085055 0.7630033 0.388811 0.0007360509 FALSE 4.06987e-06 ENSE00002412232_023 ENSE00002412232 023 5 140070405 140070574 - 35 90 45 G T 140070546 1383 29 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAATGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690960 140690961 140690961 upstr_intron -17 -0.3555556 GGAGAGTGACAGATGGATAGCTCAGCGCATTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 167 257 0.9997533 0.9995545 0.9996539 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.04641204 0.07454851 0.7719725 0.9391736 NA 0.06048027 NA FALSE NA 0.008 1.487 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 rs373242229&rs543418150 1 -:0.0006 -:0.0023 -:0 NA &-:0 -:0 &-:0 T:0.0002&-:0.0012 T:0&-:0 AGG G,T 8.239e-06 5:140690961 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 intron_variant 0.400163 0.43235 0.24696 0.085055 0.6910957 0.220947 0.0007360509 FALSE 8.14458e-06 ENSE00002412232_024 ENSE00002412232 024 5 140070405 140070574 - 35 90 45 G A 140070547 1384 28 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGACGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690961 140690962 140690962 upstr_intron -18 -0.3777778 GGAGAGTGACAGATGGATAGCTCAGCGTCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 758 256 0.9994013 0.9993817 0.9993915 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.04605998 0.07437571 0.7719725 0.9391736 NA 0.06021784 NA FALSE NA 0.005 0.875 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA GGC G,A 8.238e-06 5:140690962 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 intron_variant 0.829334 0.45901 0.12684 0.085055 0.6611661 0.29485 0.0007360509 FALSE 4.07412e-06 ENSE00002412232_025 ENSE00002412232 025 5 140070405 140070574 - 35 90 45 C G 140070550 1385 25 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGGTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 140690964 140690965 140690965 upstr_intron -21 -0.4444444 GGAGAGTGACAGATGGATAGCTCACCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 313 881 1 0.9974545 0.9987273 0.7302746 0.8136703 0.9533413 0.925006 NA NA 0.04665873 0.07244853 0.7719725 0.9391736 NA 0.05955363 NA FALSE NA 0 -0.001 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 rs558653160 1 G:0.0006 G:0 G:0 NA G:0 G:0 G:0.0031 GCT C,G 0.0002389 5:140690965 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 intron_variant 0.702422 0.48728 0.2205 0.085055 0.6540073 0.189129 0.0007360509 FALSE 0.00017529 ENSE00002412232_026 ENSE00002412232 026 5 140070405 140070574 - 35 90 45 T C 140070556 1386 19 ACTTTCTCAGTGGCTCCCTACAGGAATGATATTACCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATCTGTGGAGGGAAAGAAGGCGCTGAGCCATCCATCTGTCACTCTCC 140690819 140690989 140690970 140690971 140690971 upstr_intron -27 -0.5777778 GGAGAGTGACAGATGGATGGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT mutant NA NA NA NA NA 301 1322 0.9247052 0.9510542 0.9378797 0.7302746 0.8136703 0.9533413 0.925006 NA NA -0.02863612 0.02604822 0.7719725 0.9391736 NA -0.00129395 NA FALSE NA 0.007 0.069 . upstream_gene_variant MODIFIER HARS2 HGNC 4817 ENST00000506318 1 NA CTA T,C 8.236e-06 5:140690971 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00003645889 intron_variant 0.52934 0.41574 0.16331 0.085055 0.6957397 0.12232 0.0007360509 FALSE 4.0844e-06 ENSE00002412232_BRK ENSE00002412232 BRK 5 140070405 140070574 - 35 90 45 A,G; T,T NA NA NA ACTTTCTCAGTGGCTCCCTACAGGAATGATATTGGCTTGGGGGTTTTGAGCACAAATTTCTGTTTGCTTTCATCAGGACCCAGCTGTGCCTTCAGTTTCAGGAGTTTCGCCACCTCCTCCTCGATAAGTGGAGGGAAAGAAGGCGCTGAGCTATCCATCTGTCACTCTCC 140690819 140690989 NA NA NA NA NA NA GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACTTATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGCCAATATCATTCCTGTAGGGAGCCACTGAGAAAGT GGAGAGTGACAGATGGATAGCTCAGCGCCTTCTTTCCCTCCACAGATCGAGGAGGAGGTGGCGAAACTCCTGAAACTGAAGGCACAGCTGGGTCCTGATGAAAGCAAACAGAAATTTGTGCTCAAAACCCCCAAGGTAATATCATTCCTGTAGGGAGCCACTGAGAAAGT control 74 136 0 0 0 276 619 0 0.05467233 0.02733616 0.7302746 0.8136703 0.9533413 0.925006 -0.7302746 -0.8136703 -0.9533413 -0.8703337 0.7719725 0.9391736 -0.7719725 -0.9118375 0.139865 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HARS NA NA NA ENSG00000170445 ENSE00003645889 NA NA NA NA NA NA NA 0.0007360509 FALSE NA ENSE00002412288_000 ENSE00002412288 000 7 129102754 129102923 + 53 75 42 NA NA NA NA NA TTGCAGCAGAGAAGGGCAGCTCTGGCCTAGCCATCTCCTTACCATATACTGCGGAAGGCTGTACAGCATTCCCTGGTAGAGGATTTCACATGGCGTCTCTGGTACCACCTCTTCCCCCTATGGCAAGAAATACATGGTTTGGCAATGCCACTTTCCAGGTGACCAAAGGC 129462912 129463082 NA NA NA NA NA NA GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA natural 21 38 0.9422445 0.9660111 0.9541278 95 582 0.9558117 0.9794805 0.9676461 0.9422445 0.9660111 0.9558117 0.9794805 0 0 0 0 0.9541278 0.9676461 0 0 0 FALSE FALSE NA NA NA NA NA STRIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STRIP2 NA NA NA ENSG00000128578 ENSE00002513797 NA NA NA NA NA NA NA 7.351766e-10 FALSE NA ENSE00002412288_009 ENSE00002412288 009 7 129102754 129102923 + 53 75 42 G A 129102806 2524 53 TTGCAGCAGAGAAGGGCAGCTCTGGCCTAGCCATCTCCTTACCATATACTGCGGAAGGCTGTACAGCATTCCCTGGTAGAGGATTTCACATGGCGTCTCTGGTACCACCTCTTCCCCTTATGGCAAGAAATACATGGTTTGGCAATGCCACTTTCCAGGTGACCAAAGGC 129462912 129463082 129462964 129462965 129462965 upstr_intron -1 0 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAAGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA mutant NA NA NA NA NA 51 25 0 0 0 0.9422445 0.9660111 0.9558117 0.9794805 NA NA -0.9558117 -0.9794805 0.9541278 0.9676461 NA -0.9676461 NA TRUE NA 1 9.807 rs150375291 splice_acceptor_variant HIGH STRIP2 HGNC 22209 ENST00000435494 13/19 rs150375291 1 NA A:0 A:0.0001 HC AGG G,A 1.647e-05 7:129462965 STRIP2 HGNC Symbol protein_coding 53966 ENSG00000128578 ENSE00002513797 splice_acceptor_variant 5.582492 0.97489 0.9811 0.106106 0.9955273 0.97839 7.351766e-10 FALSE 8.14054e-06 ENSE00002412288_011 ENSE00002412288 011 7 129102754 129102923 + 53 75 42 G C 129102815 2526 62 TTGCAGCAGAGAAGGGCAGCTCTGGCCTAGCCATCTCCTTACCATATACTGCGGAAGGCTGTACAGCATTCCCTGGTAGAGGATTTCACATGGCGTCTCTGGTACCACGTCTTCCCCCTATGGCAAGAAATACATGGTTTGGCAATGCCACTTTCCAGGTGACCAAAGGC 129462912 129463082 129462973 129462974 129462974 exon 9 0.12 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGACGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA mutant NA NA NA NA NA 717 191 1 0.9991711 0.9995855 0.9422445 0.9660111 0.9558117 0.9794805 NA NA 0.04418826 0.01969057 0.9541278 0.9676461 NA 0.03193941 NA FALSE NA 1 2.228 . missense_variant MODERATE STRIP2 HGNC 22209 ENST00000435494 14/20 1 tolerated(0.26) benign(0.198) NA AGG G,C 8.236e-06 7:129462974 STRIP2 HGNC Symbol protein_coding 53966 ENSG00000128578 ENSE00002513797 missense_variant 4.188444 0.94746 0.93706 0.732398 0.9890612 0 7.351766e-10 FALSE 4.06673e-06 ENSE00002412288_017 ENSE00002412288 017 7 129102754 129102923 + 53 75 42 C T 129102842 2532 89 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATTCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA 129462912 129463082 129463000 129463001 129463001 exon 36 0.48 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATTCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA mutant NA NA NA NA NA 1202 158 0.983814 0.9939921 0.9889031 0.9422445 0.9660111 0.9558117 0.9794805 NA NA 0.02800226 0.01451163 0.9541278 0.9676461 NA 0.02125694 NA FALSE NA 0.853 -0.016 . synonymous_variant LOW STRIP2 HGNC 22209 ENST00000435494 14/20 1 NA TCC C,T 4.118e-05 7:129463001 STRIP2 HGNC Symbol protein_coding 53966 ENSG00000128578 ENSE00002513797 synonymous_variant 1.812267 0.91097 0.67993 0.706548 0.7510265 0 7.351766e-10 FALSE 3.65931e-05 ENSE00002412288_020 ENSE00002412288 020 7 129102754 129102923 + 53 75 42 G T 129102857 2535 104 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATTCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA 129462912 129463082 129463015 129463016 129463016 exon -25 0.68 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATTCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA mutant NA NA NA NA NA 10 103 0.95 0.9946537 0.9723268 0.9422445 0.9660111 0.9558117 0.9794805 NA NA -0.005811743 0.01517317 0.9541278 0.9676461 NA 0.004680711 NA FALSE NA 1 6.599 . missense_variant MODERATE STRIP2 HGNC 22209 ENST00000435494 14/20 1 tolerated(0.3) benign(0.017) NA TGC G,T 2.471e-05 7:129463016 STRIP2 HGNC Symbol protein_coding 53966 ENSG00000128578 ENSE00002513797 missense_variant 2.294579 0.96415 0.96378 0.706548 0.9439124 0 7.351766e-10 FALSE 2.44025e-05 ENSE00002412288_023 ENSE00002412288 023 7 129102754 129102923 + 53 75 42 C T 129102867 2538 114 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCTTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA 129462912 129463082 129463025 129463026 129463026 exon -15 0.8133333 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCTTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA mutant NA NA NA NA NA 82 307 0.8885886 0.9292953 0.908942 0.9422445 0.9660111 0.9558117 0.9794805 NA NA -0.06722314 -0.05018516 0.9541278 0.9676461 NA -0.05870415 NA FALSE NA 1 4.783 . missense_variant MODERATE STRIP2 HGNC 22209 ENST00000435494 14/20 1 deleterious(0) probably_damaging(0.972) NA CCT C,T 8.236e-06 7:129463026 STRIP2 HGNC Symbol protein_coding 53966 ENSG00000128578 ENSE00002513797 missense_variant 6.777448 0.96177 0.94032 0.706548 0.9989332 0 7.351766e-10 FALSE 8.14041e-06 ENSE00002412288_026 ENSE00002412288 026 7 129102754 129102923 + 53 75 42 G A 129102904 2541 151 TTGCAGCAGAGAAGGGCAGTTCTGGCCTAGCCATCTCCTTACCATATACTGCGGAAGGCTGTACAGCATTCCCTGGTAGAGGATTTCACATGGCGTCTCTGGTACCACCTCTTCCCCCTATGGCAAGAAATACATGGTTTGGCAATGCCACTTTCCAGGTGACCAAAGGC 129462912 129463082 129463062 129463063 129463063 downstr_intron 23 1.560976 GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAACTGCCCTTCTCTGCTGCAA GCCTTTGGTCACCTGGAAAGTGGCATTGCCAAACCATGTATTTCTTGCCATAGGGGGAAGAGGTGGTACCAGAGACGCCATGTGAAATCCTCTACCAGGGAATGCTGTACAGCCTTCCGCAGTATATGGTAAGGAGATGGCTAGGCCAGAGCTGCCCTTCTCTGCTGCAA mutant NA NA NA NA NA 97 371 0.95 0.9566557 0.9533279 0.9422445 0.9660111 0.9558117 0.9794805 NA NA -0.005811743 -0.02282477 0.9541278 0.9676461 NA -0.01431826 NA FALSE NA 0 0.165 . intron_variant MODIFIER STRIP2 HGNC 22209 ENST00000435494 14/19 1 NA AGC G,A 8.237e-06 7:129463063 STRIP2 HGNC Symbol protein_coding 53966 ENSG00000128578 ENSE00002513797 intron_variant 0.115266 0.20141 0.11467 0.088506 0.6374278 0.0469539 7.351766e-10 FALSE NA ENSE00002412385_000 ENSE00002412385 000 2 54150428 54150597 - 30 99 41 NA NA NA NA NA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 NA NA NA NA NA NA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA natural 82 172 0.9959193 0.9990035 0.9974614 4592 5028 0.9542605 0.8386149 0.8964377 0.9959193 0.9990035 0.9542605 0.8386149 0 0 0 0 0.9974614 0.8964377 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSME4 NA NA NA ENSG00000068878 ENSE00003568315 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002412385_001 ENSE00002412385 001 2 54150428 54150597 - 30 99 41 G C 54150438 1232 160 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAAGTGATGTATTA 53923290 53923460 53923300 53923301 53923301 downstr_intron 20 1.689655 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAAGTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 617 158 0.9990625 0.9989977 0.9990301 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04480197 0.1603828 0.9974614 0.8964377 NA 0.1025924 NA FALSE NA 0.035 0.535 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:53923301 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 intron_variant 1.347888 0.26837 0.23846 0.099367 0.774524 0.207091 1 TRUE 9.10465e-05 ENSE00002412385_002 ENSE00002412385 002 2 54150428 54150597 - 30 99 41 G A 54150438 1233 160 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAATTGATGTATTA 53923290 53923460 53923300 53923301 53923301 downstr_intron 20 1.689655 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAATTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 3035 1159 0.9261939 0.9959706 0.9610822 0.9959193 0.9990035 0.9542605 0.8386149 NA NA -0.0280666 0.1573557 0.9974614 0.8964377 NA 0.06464455 NA FALSE NA 0.035 0.535 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003568315 intron_variant 1.6095 0.25256 0.06722 0.099367 0.881645 0.207091 8.657011e-06 FALSE 4.55232e-06 ENSE00002412385_003 ENSE00002412385 003 2 54150428 54150597 - 30 99 41 G T 54150438 1234 160 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAAATGATGTATTA 53923290 53923460 53923300 53923301 53923301 downstr_intron 20 1.689655 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAAATGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 622 683 1 0.998019 0.9990095 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04573952 0.1594041 0.9974614 0.8964377 NA 0.1025718 NA FALSE NA 0.035 0.535 NA NA NA PSME4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSME4 NA NA NA ENSG00000068878 ENSE00003568315 intron_variant 1.437835 0.28181 0.14721 0.099367 0.8614018 0.207091 1 TRUE 4.55232e-06 ENSE00002412385_004 ENSE00002412385 004 2 54150428 54150597 - 30 99 41 C A 54150441 1235 157 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTTAACTGATGTATTA 53923290 53923460 53923303 53923304 53923304 downstr_intron 17 1.586207 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTTAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 277 1923 0.9899248 0.9986402 0.9942825 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.0356643 0.1600253 0.9974614 0.8964377 NA 0.09784481 NA FALSE NA 0 -1.479 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA TCA C,A 8.236e-06 2:53923304 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 intron_variant 1.759238 0.18977 0.03086 0.156188 0.8680923 0.238342 1 TRUE NA ENSE00002412385_005 ENSE00002412385 005 2 54150428 54150597 - 30 99 41 A G 54150452 1236 146 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGCTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923314 53923315 53923315 downstr_intron 6 1.206897 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGCTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 1565 2367 0.9998041 0.9794934 0.9896487 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04554363 0.1408785 0.9974614 0.8964377 NA 0.09321105 NA FALSE NA 0.997 1.168 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA AAC A,G 1.647e-05 2:53923315 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 splice_region_variant 1.734031 0.95124 0.63889 0.156188 0.8735742 0.56003 1 TRUE 8.91536e-06 ENSE00002412385_006 ENSE00002412385 006 2 54150428 54150597 - 30 99 41 C T 54150453 1237 145 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAATTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923315 53923316 53923316 downstr_intron 5 1.172414 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAATTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 32 682 0.01217835 0.0007415457 0.006459947 0.9959193 0.9990035 0.9542605 0.8386149 NA NA -0.9420821 -0.8378734 0.9974614 0.8964377 NA -0.8899778 NA TRUE NA 1 3.164 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA ACT C,T 8.236e-06 2:53923316 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 splice_region_variant 2.625835 0.98889 0.72166 0.156188 0.9714319 0.985262 1 TRUE 1.33622e-05 ENSE00002412385_007 ENSE00002412385 007 2 54150428 54150597 - 30 99 41 A G 54150464 1238 134 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCCGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923326 53923327 53923327 exon -7 0.9393939 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCCGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 978 298 0.9979117 1 0.9989558 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04365117 0.1613851 0.9974614 0.8964377 NA 0.1025181 NA FALSE NA 0.525 -0.135 rs144437430 intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA CAG A,G 2.471e-05 2:53923327 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 synonymous_variant 0.341594 0.97284 0.66363 0.732398 0.7676606 0 1 TRUE 1.28841e-05 ENSE00002412385_008 ENSE00002412385 008 2 54150428 54150597 - 30 99 41 C T 54150469 1239 129 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCACTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923331 53923332 53923332 exon -12 0.8888889 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCACTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 72 1182 0.9720091 0.9761536 0.9740814 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.01774865 0.1375387 0.9974614 0.8964377 NA 0.07764367 NA FALSE NA 1 7.802 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA GCG C,T 8.236e-06 2:53923332 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 6.090104 0.99209 0.99168 0.732398 0.9962342 0 1 TRUE NA ENSE00002412385_009 ENSE00002412385 009 2 54150428 54150597 - 30 99 41 G A 54150470 1240 128 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGTGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923332 53923333 53923333 exon -13 0.8787879 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGTGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 477 1202 1 0.9981098 0.9990549 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04573952 0.1594949 0.9974614 0.8964377 NA 0.1026172 NA FALSE NA 1 0.732 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA CGC G,A 8.236e-06 2:53923333 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 synonymous_variant 1.370773 0.97063 0.72781 0.732398 0.6233027 0 1 TRUE 2.52957e-05 ENSE00002412385_011 ENSE00002412385 011 2 54150428 54150597 - 30 99 41 G A 54150479 1242 119 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGATATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923341 53923342 53923342 exon -22 0.7878788 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGATATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 55 630 0.945694 1 0.972847 0.9959193 0.9990035 0.9542605 0.8386149 NA NA -0.008566454 0.1613851 0.9974614 0.8964377 NA 0.07640932 NA FALSE NA 1 1.259 rs139098624 intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 rs139098624 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 A:0 A:0.0003 TGT G,A 0.000173 2:53923342 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 synonymous_variant 1.164203 0.98083 0.8689 0.732398 0.5348244 0 1 TRUE 0.000170068 ENSE00002412385_012 ENSE00002412385 012 2 54150428 54150597 - 30 99 41 C T 54150492 1243 106 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCACATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923354 53923355 53923355 exon -35 0.6565657 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCACATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 289 39 0.998423 0.8576282 0.9280256 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04416251 0.01901328 0.9974614 0.8964377 NA 0.03158789 NA FALSE NA 1 6.075 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA GCG C,T 8.237e-06 2:53923355 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 5.794027 0.99264 0.98823 0.732398 0.998658 0 1 TRUE 2.05783e-05 ENSE00002412385_013 ENSE00002412385 013 2 54150428 54150597 - 30 99 41 T C 54150508 1244 90 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAGCAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923370 53923371 53923371 exon 49 0.4949495 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAGCAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 250 1670 1 0.9992674 0.9996337 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04573952 0.1606525 0.9974614 0.8964377 NA 0.103196 NA FALSE NA 1 6.275 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA GTT T,C 8.237e-06 2:53923371 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 1.760522 0.9863 0.98071 0.732398 0.997041 0 1 TRUE NA ENSE00002412385_014 ENSE00002412385 014 2 54150428 54150597 - 30 99 41 T C 54150517 1245 81 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATGTATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923379 53923380 53923380 exon 40 0.4040404 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATGTATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 499 2195 0.9880334 0.9993035 0.9936685 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.03377297 0.1606885 0.9974614 0.8964377 NA 0.09723075 NA FALSE NA 1 6.263 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA ATA T,C 8.238e-06 2:53923380 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 2.110092 0.99413 0.99264 0.732398 0.9879267 0 1 TRUE 1.64874e-05 ENSE00002412385_015 ENSE00002412385 015 2 54150428 54150597 - 30 99 41 G T 54150520 1246 78 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCAAATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923382 53923383 53923383 exon 37 0.3737374 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCAAATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 553 866 1 0.9952571 0.9976285 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04573952 0.1566422 0.9974614 0.8964377 NA 0.1011908 NA FALSE NA 1 6.905 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA TGT G,T 8.238e-06 2:53923383 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 2.142179 0.98968 0.79161 0.732398 0.9273421 0 1 TRUE 1.23728e-05 ENSE00002412385_016 ENSE00002412385 016 2 54150428 54150597 - 30 99 41 A C 54150527 1247 71 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCGACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923389 53923390 53923390 exon 30 0.3030303 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCGACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 1126 1899 0.9983628 0.9984123 0.9983876 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04410236 0.1597974 0.9974614 0.8964377 NA 0.1019499 NA FALSE NA 0.996 0.305 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA TAG A,C 4.12e-05 2:53923390 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 0.212628 0.96222 0.92653 0.732398 0.9958332 0 1 TRUE 3.33948e-05 ENSE00002412385_017 ENSE00002412385 017 2 54150428 54150597 - 30 99 41 A G 54150540 1248 58 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGCTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923402 53923403 53923403 exon 17 0.1717172 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGCTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 4127 683 0.9987631 1 0.9993815 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04450258 0.1613851 0.9974614 0.8964377 NA 0.1029438 NA FALSE NA 1 7.503 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA AAC A,G 8.242e-06 2:53923403 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 4.514137 0.99437 0.99563 0.732398 0.9691085 0 1 TRUE NA ENSE00002412385_018 ENSE00002412385 018 2 54150428 54150597 - 30 99 41 C T 54150542 1249 56 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAAGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923404 53923405 53923405 exon 15 0.1515152 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAAGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 236 19 1 1 1 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04573952 0.1613851 0.9974614 0.8964377 NA 0.1035623 NA FALSE NA 0.998 0.601 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA CCT C,T 8.243e-06 2:53923405 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 2.194416 0.98322 0.93624 0.732398 0.6655696 0 1 TRUE 4.24128e-06 ENSE00002412385_019 ENSE00002412385 019 2 54150428 54150597 - 30 99 41 A C 54150555 1250 43 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGGGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923417 53923418 53923418 exon 2 0.02020202 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGGGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 283 1311 0.9662576 0.9971907 0.9817242 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.01199716 0.1585758 0.9974614 0.8964377 NA 0.08528649 NA FALSE NA 1 7.517 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA CAC A,C 8.25e-06 2:53923418 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 missense_variant 4.16154 0.99068 0.99612 0.732398 0.8595441 0 1 TRUE 4.50215e-06 ENSE00002412385_021 ENSE00002412385 021 2 54150428 54150597 - 30 99 41 T A 54150561 1252 37 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTTACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923423 53923424 53923424 upstr_intron -5 -0.09756098 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTTACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 674 2535 0.9956589 0.9971423 0.9964006 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04139838 0.1585274 0.9974614 0.8964377 NA 0.09996289 NA FALSE NA 1 0.678 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:53923424 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 splice_region_variant 1.783601 0.96706 0.79352 0.088506 0.8181875 0.489617 1 TRUE 1.40008e-05 ENSE00002412385_022 ENSE00002412385 022 2 54150428 54150597 - 30 99 41 T C 54150561 1253 37 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTGACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923423 53923424 53923424 upstr_intron -5 -0.09756098 TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTGACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 572 955 0.9997119 0.9987955 0.9992537 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04545138 0.1601806 0.9974614 0.8964377 NA 0.102816 NA FALSE NA 1 0.678 NA NA NA PSME4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PSME4 NA NA NA ENSG00000068878 ENSE00003568315 splice_region_variant 1.457664 0.96824 0.83694 0.088506 0.8303398 0.489617 1 TRUE 4.66692e-06 ENSE00002412385_024 ENSE00002412385 024 2 54150428 54150597 - 30 99 41 T C 54150566 1255 32 TTCTTAAAAAATGCTCATTAAACATTTTCATGTCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923428 53923429 53923429 upstr_intron -10 -0.2195122 TTCTTAAAAAATGCTCATTAAACATTTTCATGTCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 620 932 0.9953561 0.9959097 0.9956329 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.0410956 0.1572948 0.9974614 0.8964377 NA 0.09919521 NA FALSE NA 0.001 -1.111 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA ATA T,C 2.477e-05 2:53923429 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 intron_variant 1.94373 0.23541 0.02069 0.088506 0.8682003 0.383772 1 TRUE 1.96932e-05 ENSE00002412385_025 ENSE00002412385 025 2 54150428 54150597 - 30 99 41 T C 54150577 1256 21 TTCTTAAAAAATGCTCATTAGACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923439 53923440 53923440 upstr_intron -21 -0.4878049 TTCTTAAAAAATGCTCATTAGACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 152 325 1 1 1 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04573952 0.1613851 0.9974614 0.8964377 NA 0.1035623 NA FALSE NA 0 -0.892 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA TTT T,C 2.484e-05 2:53923440 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 intron_variant 0.131366 0.24651 0.03281 0.088506 0.7497189 0.153832 1 TRUE 3.30983e-05 ENSE00002412385_026 ENSE00002412385 026 2 54150428 54150597 - 30 99 41 A T 54150583 1257 15 TTCTTAAAAAATGCACATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923445 53923446 53923446 upstr_intron -27 -0.6341463 TTCTTAAAAAATGCACATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 349 1826 1 0.8633186 0.9316593 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04573952 0.02470368 0.9974614 0.8964377 NA 0.0352216 NA FALSE NA 0 1.07 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 rs200619825 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 GAG A,T 1.66e-05 2:53923446 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 intron_variant 0.234236 0.28565 0.14586 0.088506 0.5818789 0.153832 1 TRUE 1.19577e-05 ENSE00002412385_027 ENSE00002412385 027 2 54150428 54150597 - 30 99 41 T C 54150587 1258 11 TTCTTAAAAAGTGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA 53923290 53923460 53923449 53923450 53923450 upstr_intron -31 -0.7317073 TTCTTAAAAAGTGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA TTCTTAAAAAATGCTCATTAAACATTTTCATATCTTAACAGGTGGCCCTTCAGAAGGTTTTTAATTTTTCTACTTCACATATATTTGAAACAAGAGTAGCAGGTCGCATGGTGGCAGACATGTGCCGCGCTGCTGTAAAGGTGAGTTTATTTTTTTGAACTGATGTATTA mutant NA NA NA NA NA 3001 1029 0.9966887 0.9955647 0.9961267 0.9959193 0.9990035 0.9542605 0.8386149 NA NA 0.04242818 0.1569498 0.9974614 0.8964377 NA 0.09968898 NA FALSE NA 0 -0.171 . intron_variant MODIFIER PSME4 HGNC 20635 ENST00000421748 1/26 1 NA ATT T,C 8.309e-06 2:53923450 PSME4 HGNC Symbol protein_coding 106773 ENSG00000068878 ENSE00003568315 intron_variant -0.108326 0.23674 0.08645 0.088506 0.7499883 0.153832 1 TRUE 1.23813e-05 ENSE00002412736_000 ENSE00002412736 000 2 144008035 144008204 + 45 90 35 NA NA NA NA NA AATAGGAATAAATTGAATATATGTAACATTCTTACCTGAAAGACATTCTTTCTGCTCGATTTTTCCTTGGCCCATTCAATGTGTGCTCCACACAAATCCACACTTTCTGGTTTGTGCCCAGTTTTCTGTAATCACAAAAATGAAGTAAGAATAAGAGGATGCAACACTGT 143250465 143250635 NA NA NA NA NA NA ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT natural 51 49 0.9993036 0.9989567 0.9991301 2645 2839 0.9525327 0.8121172 0.882325 0.9993036 0.9989567 0.9525327 0.8121172 0 0 0 0 0.9991301 0.882325 0 0 0 FALSE FALSE NA NA NA NA NA ARHGAP15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGAP15 NA NA NA ENSG00000075884 ENSE00003605915 NA NA NA NA NA NA NA 5.254057e-06 FALSE NA ENSE00002412736_001 ENSE00002412736 001 2 144008035 144008204 + 45 90 35 T G 144008052 2824 18 AATAGGAATAAATTGAATATATGTAACATTCTTACCTGAAAGACATTCTTTCTGCTCGATTTTTCCTTGGCCCATTCAATGTGTGCTCCACACAAATCCACACTTTCTGGTTTGTGCCCAGTTTTCTGTAATCACAAAAATGAAGTAAGAATCAGAGGATGCAACACTGT 143250465 143250635 143250482 143250483 143250483 upstr_intron -28 -0.6 ACAGTGTTGCATCCTCTGATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 100 30 1 1 1 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.04746728 0.1878828 0.9991301 0.882325 NA 0.117675 NA FALSE NA 0.962 -0.094 . intron_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 4/5 rs199764421 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 G:0.0002 G:0 TTA T,G 2.472e-05 2:143250483 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 intron_variant 0.359715 0.27476 0.19537 0.295142 0.7286605 0.168356 5.254057e-06 FALSE 3.28267e-05 ENSE00002412736_002 ENSE00002412736 002 2 144008035 144008204 + 45 90 35 T C 144008058 2825 24 AATAGGAATAAATTGAATATATGTAACATTCTTACCTGAAAGACATTCTTTCTGCTCGATTTTTCCTTGGCCCATTCAATGTGTGCTCCACACAAATCCACACTTTCTGGTTTGTGCCCAGTTTTCTGTAATCACAAAAATGAAGTGAGAATAAGAGGATGCAACACTGT 143250465 143250635 143250488 143250489 143250489 upstr_intron -22 -0.4666667 ACAGTGTTGCATCCTCTTATTCTCACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 636 747 0.9970959 0.9996426 0.9983692 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.04456319 0.1875254 0.9991301 0.882325 NA 0.1160443 NA FALSE NA 0.987 1.95 . intron_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 4/5 rs369110198 1 NA C:0 C:0.0001 TTA T,C 8.238e-06 2:143250489 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 intron_variant 0.522332 0.40129 0.25576 0.295142 0.793418 0.90751 5.254057e-06 FALSE 4.09333e-06 ENSE00002412736_003 ENSE00002412736 003 2 144008035 144008204 + 45 90 35 A C 144008064 2826 30 ACAGTGTTGCATCCTCTTATTCTTACTTCCTTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT 143250465 143250635 143250494 143250495 143250495 upstr_intron -16 -0.3333333 ACAGTGTTGCATCCTCTTATTCTTACTTCCTTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 355 2032 0.9947789 0.998459 0.9966189 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.04224615 0.1863418 0.9991301 0.882325 NA 0.114294 NA FALSE NA 0 -0.028 . intron_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 4/5 1 NA CAT A,C 8.25e-06 2:143250495 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 intron_variant -0.202929 0.21976 0.14071 0.295142 0.718687 0.12776 5.254057e-06 FALSE NA ENSE00002412736_004 ENSE00002412736 004 2 144008035 144008204 + 45 90 35 G A 144008070 2827 36 AATAGGAATAAATTGAATATATGTAACATTCTTACCTGAAAGACATTCTTTCTGCTCGATTTTTCCTTGGCCCATTCAATGTGTGCTCCACACAAATCCACACTTTCTGGTTTGTGCCCAGTTTTCTGTAATCATAAAAATGAAGTAAGAATAAGAGGATGCAACACTGT 143250465 143250635 143250500 143250501 143250501 upstr_intron -10 -0.2 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTATGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 300 480 1 1 1 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.04746728 0.1878828 0.9991301 0.882325 NA 0.117675 NA FALSE NA 0.003 -0.29 . intron_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 4/5 1 NA TGT G,A 1.647e-05 2:143250501 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 intron_variant -0.708124 0.15368 0.06082 0.295142 0.1801471 0.171863 5.254057e-06 FALSE 8.16907e-06 ENSE00002412736_005 ENSE00002412736 005 2 144008035 144008204 + 45 90 35 A G 144008076 2828 42 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTGCAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT 143250465 143250635 143250506 143250507 143250507 upstr_intron -4 -0.06666667 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTGCAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 1581 483 0.9233522 0.9845248 0.9539385 0.9993036 0.9989567 0.9525327 0.8121172 NA NA -0.02918049 0.1724076 0.9991301 0.882325 NA 0.07161354 NA FALSE NA 0.737 0.723 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ARHGAP15 HGNC 21030 ENST00000460776 4/5 1 NA TAC A,G 8.237e-06 2:143250507 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 splice_region_variant 1.298171 0.56202 0.61935 0.295142 0.833376 0.379256 5.254057e-06 FALSE 4.0788e-06 ENSE00002412736_012 ENSE00002412736 012 2 144008035 144008204 + 45 90 35 A C 144008130 2835 96 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGACTGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT 143250465 143250635 143250560 143250561 143250561 exon -40 0.5666667 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGACTGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 2487 918 0.9997515 0.9946214 0.9971864 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.0472188 0.1825042 0.9991301 0.882325 NA 0.1148615 NA FALSE NA 0.998 0.478 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 5/6 1 NA AAT A,C 8.237e-06 2:143250561 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 missense_variant 1.471879 0.96305 0.75595 0.706548 0.9966832 0 5.254057e-06 FALSE 8.1422e-06 ENSE00002412736_013 ENSE00002412736 013 2 144008035 144008204 + 45 90 35 A G 144008144 2836 110 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAGATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT 143250465 143250635 143250574 143250575 143250575 exon -26 0.7222222 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAGATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 926 815 0.9977945 0.9649015 0.981348 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.04526179 0.1527843 0.9991301 0.882325 NA 0.09902304 NA FALSE NA 1 7.442 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 5/6 1 NA AAA A,G 8.237e-06 2:143250575 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 missense_variant 4.236284 0.98887 0.97858 0.706548 0.9967647 0 5.254057e-06 FALSE 4.07438e-06 ENSE00002412736_016 ENSE00002412736 016 2 144008035 144008204 + 45 90 35 A C 144008158 2839 124 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGCATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT 143250465 143250635 143250588 143250589 143250589 exon -12 0.8777778 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGCATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 1078 2063 0.9562326 0.9669315 0.9615821 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.003699913 0.1548143 0.9991301 0.882325 NA 0.07925712 NA FALSE NA 1 7.442 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 5/6 1 NA GAA A,C 1.648e-05 2:143250589 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 missense_variant 3.734829 0.98226 0.97297 0.706548 0.9933497 0 5.254057e-06 FALSE NA ENSE00002412736_017 ENSE00002412736 017 2 144008035 144008204 + 45 90 35 T C 144008177 2840 143 AATAGGAATAAATTGAATATATGTAACGTTCTTACCTGAAAGACATTCTTTCTGCTCGATTTTTCCTTGGCCCATTCAATGTGTGCTCCACACAAATCCACACTTTCTGGTTTGTGCCCAGTTTTCTGTAATCACAAAAATGAAGTAAGAATAAGAGGATGCAACACTGT 143250465 143250635 143250607 143250608 143250608 downstr_intron 8 1.235294 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAACGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 606 64 0.9991822 1 0.9995911 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.0466495 0.1878828 0.9991301 0.882325 NA 0.1172661 NA FALSE NA 0.003 0.189 rs113265544 splice_region_variant&intron_variant&non_coding_transcript_variant LOW ARHGAP15 HGNC 21030 ENST00000460776 5/5 rs113265544 1 NA C:0.0002 C:0 ATG T,C 1.648e-05 2:143250608 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 splice_region_variant 1.13316 0.21804 0.16654 0.062308 0.7979628 0.257725 5.254057e-06 FALSE 1.23117e-05 ENSE00002412736_018 ENSE00002412736 018 2 144008035 144008204 + 45 90 35 G A 144008178 2841 144 AATAGGAATAAATTGAATATATGTAATATTCTTACCTGAAAGACATTCTTTCTGCTCGATTTTTCCTTGGCCCATTCAATGTGTGCTCCACACAAATCCACACTTTCTGGTTTGTGCCCAGTTTTCTGTAATCACAAAAATGAAGTAAGAATAAGAGGATGCAACACTGT 143250465 143250635 143250608 143250609 143250609 downstr_intron 9 1.264706 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATATTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 104 1012 1 0.8802272 0.9401136 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.04746728 0.06810999 0.9991301 0.882325 NA 0.05778863 NA FALSE NA 0 0.265 . intron_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 5/5 1 NA TGT G,A 1.648e-05 2:143250609 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 intron_variant 1.873756 0.1847 0.07897 0.062308 0.8048264 0.257725 5.254057e-06 FALSE 1.23341e-05 ENSE00002412736_021 ENSE00002412736 021 2 144008035 144008204 + 45 90 35 A G 144008192 2844 158 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAGTTTATTCCTATT 143250465 143250635 143250622 143250623 143250623 downstr_intron 23 1.676471 ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAGTTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT mutant NA NA NA NA NA 799 1139 1 0.9981291 0.9990646 0.9993036 0.9989567 0.9525327 0.8121172 NA NA 0.04746728 0.1860119 0.9991301 0.882325 NA 0.1167396 NA FALSE NA 0.484 1.964 . intron_variant&non_coding_transcript_variant MODIFIER ARHGAP15 HGNC 21030 ENST00000460776 5/5 1 NA AAT A,G 8.242e-06 2:143250623 ARHGAP15 HGNC Symbol protein_coding 676990 ENSG00000075884 ENSE00003605915 intron_variant 0.831257 0.32026 0.74343 0.062308 0.7863861 0.216928 5.254057e-06 FALSE 1.2624e-05 ENSE00002412736_BRK ENSE00002412736 BRK 2 144008035 144008204 + 45 90 35 A,G; T,T NA NA NA ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACTTAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGCCAAGAATGTTACATATATTCAATTTATTCCTATT 143250465 143250635 NA NA NA NA NA NA ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACTTAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGCCAAGAATGTTACATATATTCAATTTATTCCTATT ACAGTGTTGCATCCTCTTATTCTTACTTCATTTTTGTGATTACAGAAAACTGGGCACAAACCAGAAAGTGTGGATTTGTGTGGAGCACACATTGAATGGGCCAAGGAAAAATCGAGCAGAAAGAATGTCTTTCAGGTAAGAATGTTACATATATTCAATTTATTCCTATT control NA NA NA NA NA 657 1251 0 0.1438435 0.07192176 0.9993036 0.9989567 0.9525327 0.8121172 NA NA -0.9525327 -0.6682737 0.9991301 0.882325 NA -0.8104032 NA TRUE NA NA NA NA NA NA ARHGAP15 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ARHGAP15 NA NA NA ENSG00000075884 ENSE00003605915 NA NA NA NA NA NA NA 5.254057e-06 FALSE NA ENSE00002412932_000 ENSE00002412932 000 2 216209458 216209627 + 44 93 33 NA NA NA NA NA GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 NA NA NA NA NA NA GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC natural 69 55 0.9806839 0.9660575 0.9733707 1237 1161 0.9951841 0.8043745 0.8997793 0.9806839 0.9660575 0.9951841 0.8043745 0 0 0 0 0.9733707 0.8997793 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATIC NA NA NA ENSG00000138363 ENSE00003564427 NA NA NA NA NA NA NA 2.486095e-13 FALSE NA ENSE00002412932_002 ENSE00002412932 002 2 216209458 216209627 + 44 93 33 C T 216209469 4452 12 GTTTAAAAGGCTCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344745 215344746 215344746 upstr_intron -33 -0.7272727 GTTTAAAAGGCTCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 306 161 0.9954756 1 0.9977378 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.0002914923 0.1956255 0.9733707 0.8997793 NA 0.09795849 NA FALSE NA 0 -0.096 NA NA NA ATIC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:215344746 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 intron_variant 0.579534 0.17418 0.04411 0.256867 0.7038909 0.0455939 2.486095e-13 FALSE 4.07299e-06 ENSE00002412932_003 ENSE00002412932 003 2 216209458 216209627 + 44 93 33 C T 216209471 4453 14 GTTTAAAAGGCCCTATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344747 215344748 215344748 upstr_intron -31 -0.6818182 GTTTAAAAGGCCCTATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 118 307 1 0.9997517 0.9998758 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.00481592 0.1953772 0.9733707 0.8997793 NA 0.1000965 NA FALSE NA 0 -1.086 . intron_variant MODIFIER ATIC HGNC 794 ENST00000426233 2/4 1 NA CCA C,T 8.236e-06 2:215344748 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 intron_variant 0.162792 0.09105 0.01018 0.256867 0.7192233 0.0455939 2.486095e-13 FALSE NA ENSE00002412932_004 ENSE00002412932 004 2 216209458 216209627 + 44 93 33 A G 216209472 4454 15 GTTTAAAAGGCCCCGTGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344748 215344749 215344749 upstr_intron -30 -0.6590909 GTTTAAAAGGCCCCGTGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 63 42 0.9799459 1 0.9899729 0.9806839 0.9660575 0.9951841 0.8043745 NA NA -0.01523823 0.1956255 0.9733707 0.8997793 NA 0.09019363 NA FALSE NA 0 -0.545 rs13010249 intron_variant MODIFIER ATIC HGNC 794 ENST00000426233 2/4 rs13010249 1 G:0.2778 G:0.0673 G:0.3055 NA G:0.2946 G:0.3111 G:0.4908 G:0.0987 G:0.3234 CAT A,G 0.324 2:215344749 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 intron_variant -0.139313 0.08267 0.01156 0.256867 0.5200517 0.0448725 2.486095e-13 FALSE 0.326554 ENSE00002412932_007 ENSE00002412932 007 2 216209458 216209627 + 44 93 33 G A 216209493 4457 36 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATATGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344769 215344770 215344770 upstr_intron -9 -0.1818182 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATATGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 91 182 1 0.99913 0.999565 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.00481592 0.1947555 0.9733707 0.8997793 NA 0.09978572 NA FALSE NA 0.006 -1.241 . intron_variant MODIFIER ATIC HGNC 794 ENST00000426233 2/4 1 NA TGT G,A 8.236e-06 2:215344770 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 intron_variant 0.605463 0.24885 0.04202 0.256867 0.6364957 0.0689857 2.486095e-13 FALSE 8.12876e-06 ENSE00002412932_009 ENSE00002412932 009 2 216209458 216209627 + 44 93 33 A G 216209507 4459 50 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCGGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344783 215344784 215344784 exon 6 0.06451613 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCGGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 150 700 0.9975043 1 0.9987522 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.00232023 0.1956255 0.9733707 0.8997793 NA 0.09897286 NA FALSE NA 0 -3.563 . synonymous_variant LOW ATIC HGNC 794 ENST00000426233 3/5 1 NA CAG A,G 8.236e-06 2:215344784 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 synonymous_variant -0.247467 0.45548 0.05967 0.706548 0.4601478 0 2.486095e-13 FALSE 4.06256e-06 ENSE00002412932_010 ENSE00002412932 010 2 216209458 216209627 + 44 93 33 G A 216209508 4460 51 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAAAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344784 215344785 215344785 exon 7 0.07526882 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAAAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 206 686 1 0.999889 0.9999445 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.00481592 0.1955145 0.9733707 0.8997793 NA 0.1001652 NA FALSE NA 1 9.841 rs141872658 missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 rs141872658 1 tolerated(0.16) benign(0.005) A:0.0038 A:0.0136 A:0.0014 NA A:0 A:0 A:0 A:0.0104 A:0 AGA G,A 0.001087 2:215344785 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 3.38643 0.99555 0.99682 0.706548 0.9962436 0 2.486095e-13 FALSE 0.000865354 ENSE00002412932_013 ENSE00002412932 013 2 216209458 216209627 + 44 93 33 C G 216209520 4463 63 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCGGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344796 215344797 215344797 exon 19 0.2043011 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCGGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 328 205 0.9981259 1 0.999063 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.002941826 0.1956255 0.9733707 0.8997793 NA 0.09928365 NA FALSE NA 0.998 0.725 NA NA NA ATIC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:215344797 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 4.512993 0.97922 0.94025 0.706548 0.9949532 0 2.486095e-13 FALSE 8.12414e-06 ENSE00002412932_014 ENSE00002412932 014 2 216209458 216209627 + 44 93 33 G A 216209521 4464 64 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCAAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344797 215344798 215344798 exon 20 0.2150538 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCAAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 201 307 1 1 1 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.00481592 0.1956255 0.9733707 0.8997793 NA 0.1002207 NA FALSE NA 1 4.776 rs146536943 missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 rs146536943 1 tolerated(0.1) benign(0.02) NA A:0.0002 A:0 CGA G,A 1.647e-05 2:215344798 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 4.333261 0.99555 0.98826 0.706548 0.9993674 0 2.486095e-13 FALSE 8.12427e-06 ENSE00002412932_016 ENSE00002412932 016 2 216209458 216209627 + 44 93 33 G A 216209532 4466 75 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCATAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344808 215344809 215344809 exon 31 0.3333333 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCATAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 52 361 1 0.9982952 0.9991476 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.00481592 0.1939207 0.9733707 0.8997793 NA 0.09936832 NA FALSE NA 1 6.774 . missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 rs374326906 1 tolerated(0.38) benign(0.145) NA A:0 A:0.0001 CGT G,A 4.118e-05 2:215344809 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 3.50418 0.99549 0.99391 0.706548 0.9976833 0 2.486095e-13 FALSE 3.24973e-05 ENSE00002412932_017 ENSE00002412932 017 2 216209458 216209627 + 44 93 33 C T 216209545 4467 88 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGTTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344821 215344822 215344822 exon 44 0.4731183 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGTTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 408 851 0.9946993 1 0.9973497 0.9806839 0.9660575 0.9951841 0.8043745 NA NA -0.0004847572 0.1956255 0.9733707 0.8997793 NA 0.09757036 NA FALSE NA 1 7.796 . missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 1 deleterious(0.05) probably_damaging(0.929) NA GCT C,T 8.236e-06 2:215344822 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 6.489387 0.99545 0.99474 0.706548 0.999297 0 2.486095e-13 FALSE 8.12328e-06 ENSE00002412932_018 ENSE00002412932 018 2 216209458 216209627 + 44 93 33 A G 216209551 4468 94 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAGGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344827 215344828 215344828 exon -44 0.5376344 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAGGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 1132 94 0.998168 1 0.999084 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.002983879 0.1956255 0.9733707 0.8997793 NA 0.09930468 NA FALSE NA 1 9.313 rs121434478 missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 rs121434478&CM041244 1 deleterious(0) probably_damaging(1) NA AAG A,G 1.647e-05 2:215344828 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 6.676644 0.99387 0.99664 0.706548 0.9990649 0 2.486095e-13 FALSE 1.21839e-05 ENSE00002412932_021 ENSE00002412932 021 2 216209458 216209627 + 44 93 33 T G 216209568 4471 111 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACGCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344844 215344845 215344845 exon -27 0.7204301 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACGCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 465 303 0.9990099 1 0.9995049 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.003825797 0.1956255 0.9733707 0.8997793 NA 0.09972564 NA FALSE NA 1 8.018 . missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 1 deleterious(0) probably_damaging(0.999) NA CTC T,G 8.236e-06 2:215344845 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 5.061094 0.99389 0.99514 0.706548 0.9972936 0 2.486095e-13 FALSE 4.06154e-06 ENSE00002412932_022 ENSE00002412932 022 2 216209458 216209627 + 44 93 33 C T 216209579 4472 122 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTATGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344855 215344856 215344856 exon -16 0.8387097 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTATGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 342 280 0.994708 0.9743027 0.9845053 0.9806839 0.9660575 0.9951841 0.8043745 NA NA -0.0004760457 0.1699281 0.9733707 0.8997793 NA 0.08472605 NA FALSE NA 0.31 -0.377 rs114277100 synonymous_variant LOW ATIC HGNC 794 ENST00000426233 3/5 rs114277100 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 ACG C,T 4.942e-05 2:215344856 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 synonymous_variant 1.631947 0.95814 0.20526 0.706548 0.4914175 0 2.486095e-13 FALSE 4.87428e-05 ENSE00002412932_023 ENSE00002412932 023 2 216209458 216209627 + 44 93 33 G A 216209580 4473 123 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACACCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344856 215344857 215344857 exon -15 0.8494624 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACACCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 559 365 0.9958621 0.99735 0.9966061 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.0006780397 0.1929755 0.9733707 0.8997793 NA 0.09682677 NA FALSE NA 1 9.873 . missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 rs371283342 1 deleterious(0.02) benign(0.276) NA A:0 A:0.0001 CGC G,A 1.647e-05 2:215344857 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 7.230561 0.99229 0.99852 0.706548 0.9991729 0 2.486095e-13 FALSE 1.21862e-05 ENSE00002412932_024 ENSE00002412932 024 2 216209458 216209627 + 44 93 33 A G 216209587 4474 130 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAGCGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344863 215344864 215344864 exon -8 0.9247312 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAGCGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 326 904 0.9816375 0.9915082 0.9865729 0.9806839 0.9660575 0.9951841 0.8043745 NA NA -0.01354658 0.1871337 0.9733707 0.8997793 NA 0.08679357 NA FALSE NA 1 7.41 . missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 rs545143019 1 deleterious(0.03) benign(0.008) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAC A,G 1.647e-05 2:215344864 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 4.172696 0.99387 0.99764 0.706548 0.9971585 0 2.486095e-13 FALSE 1.62471e-05 ENSE00002412932_025 ENSE00002412932 025 2 216209458 216209627 + 44 93 33 C T 216209588 4475 131 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAATGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344864 215344865 215344865 exon -7 0.9354839 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAATGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 109 945 0.9953794 1 0.9976897 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.0001952807 0.1956255 0.9733707 0.8997793 NA 0.09791038 NA FALSE NA 0.123 -0.467 . synonymous_variant LOW ATIC HGNC 794 ENST00000426233 3/5 rs553792539&COSM3972008 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 8.236e-06 2:215344865 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 synonymous_variant 1.980379 0.96292 0.15152 0.706548 0.7561265 0 2.486095e-13 FALSE 1.6247e-05 ENSE00002412932_026 ENSE00002412932 026 2 216209458 216209627 + 44 93 33 G A 216209589 4476 132 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACAGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344865 215344866 215344866 exon -6 0.9462366 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACAGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 960 982 0.9437236 0.9998389 0.9717812 0.9806839 0.9660575 0.9951841 0.8043745 NA NA -0.0514605 0.1954644 0.9733707 0.8997793 NA 0.07200195 NA FALSE NA 1 9.873 . missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 rs376292115&COSM1183926 1 deleterious(0) probably_damaging(1) NA A:0 A:0.0001 CGG G,A 1.647e-05 2:215344866 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 7.88563 0.99555 0.99895 0.706548 0.999257 0 2.486095e-13 FALSE 1.21865e-05 ENSE00002412932_027 ENSE00002412932 027 2 216209458 216209627 + 44 93 33 G C 216209590 4477 133 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGCGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344866 215344867 215344867 exon -5 0.9569892 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGCGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 294 19 1 1 1 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.00481592 0.1956255 0.9733707 0.8997793 NA 0.1002207 NA FALSE NA 1 9.873 . missense_variant MODERATE ATIC HGNC 794 ENST00000426233 3/5 rs367674366 1 deleterious(0) probably_damaging(1) NA C:0.0002 C:0 GGG G,C 1.647e-05 2:215344867 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 missense_variant 6.299741 0.99574 0.99912 0.706548 0.9986603 0 2.486095e-13 FALSE 8.12348e-06 ENSE00002412932_028 ENSE00002412932 028 2 216209458 216209627 + 44 93 33 C T 216209604 4478 147 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGTTGTTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344880 215344881 215344881 downstr_intron 10 1.3125 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGTTGTTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 275 229 0.9834319 0.9866464 0.9850392 0.9806839 0.9660575 0.9951841 0.8043745 NA NA -0.01175218 0.1822719 0.9733707 0.8997793 NA 0.08525986 NA FALSE NA 0 0.116 . intron_variant MODIFIER ATIC HGNC 794 ENST00000426233 3/4 1 NA GCT C,T 8.236e-06 2:215344881 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 non_coding_transcript_exon_variant 0.230124 0.25734 0.0532 0.156188 0.5645636 0.0682865 2.486095e-13 FALSE 8.12552e-06 ENSE00002412932_029 ENSE00002412932 029 2 216209458 216209627 + 44 93 33 G A 216209606 4479 149 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTATTGGACTCGCCTTCGGGGGAC 215344734 215344904 215344882 215344883 215344883 downstr_intron 12 1.375 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTATTGGACTCGCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 1005 242 0.9953561 0.9920756 0.9937158 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.0001720303 0.187701 0.9733707 0.8997793 NA 0.09393653 NA FALSE NA 0 -0.295 . intron_variant MODIFIER ATIC HGNC 794 ENST00000426233 3/4 rs201969051 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0003 TGT G,A 0.0001235 2:215344883 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 non_coding_transcript_exon_variant 0.076576 0.2068 0.04891 0.156188 0.5254292 0.0476527 2.486095e-13 FALSE 0.000211253 ENSE00002412932_031 ENSE00002412932 031 2 216209458 216209627 + 44 93 33 G T 216209615 4481 158 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCTCCTTCGGGGGAC 215344734 215344904 215344891 215344892 215344892 downstr_intron 21 1.65625 GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCTCCTTCGGGGGAC GTTTAAAAGGCCCCATGCAATTTACCATTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGACCTCATCGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTGTGTGCTACGCCAAGAACGGGCAGGTAAGTGGGCTGTTGGACTCGCCTTCGGGGGAC mutant NA NA NA NA NA 312 79 0.99854 1 0.99927 0.9806839 0.9660575 0.9951841 0.8043745 NA NA 0.003355896 0.1956255 0.9733707 0.8997793 NA 0.09949069 NA FALSE NA 0 -0.044 . intron_variant MODIFIER ATIC HGNC 794 ENST00000426233 3/4 1 NA CGC G,T 8.236e-06 2:215344892 ATIC HGNC Symbol protein_coding 37956 ENSG00000138363 ENSE00003564427 non_coding_transcript_exon_variant -0.165025 0.17312 0.05849 0.156188 0.5697438 0.0476527 2.486095e-13 FALSE 8.13524e-06 ENSE00002413004_000 ENSE00002413004 000 21 44179062 44179231 + 47 87 36 NA NA NA NA NA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 NA NA NA NA NA NA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA natural 882 1294 0.8388248 0.8466501 0.8427375 587 543 0.9024936 0.8884908 0.8954922 0.8388248 0.8466501 0.9024936 0.8884908 0 0 0 0 0.8427375 0.8954922 0 0 0 FALSE FALSE NA NA NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE9A NA NA NA ENSG00000160191 ENSE00003538925 NA NA NA NA NA NA NA 0.002017364 FALSE NA ENSE00002413004_001 ENSE00002413004 001 21 44179062 44179231 + 47 87 36 C T 44179079 342 18 GCCGGCCACACAACTGCTCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42758968 42758969 42758969 upstr_intron -30 -0.6170213 GCCGGCCACACAACTGCTCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 16 181 0.95 0.9546142 0.9523071 0.8388248 0.8466501 0.9024936 0.8884908 NA NA 0.04750638 0.0661234 0.8427375 0.8954922 NA 0.05681489 NA FALSE NA 0 -0.327 . downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 rs548558296 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCC C,T 8.237e-06 21:42758969 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 non_coding_transcript_exon_variant -0.239191 0.11712 0.00445 0.092769 0.4872604 0.0532368 0.002017364 FALSE 4.09383e-06 ENSE00002413004_006 ENSE00002413004 006 21 44179062 44179231 + 47 87 36 C G 44179121 347 60 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCGTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759010 42759011 42759011 exon 13 0.1494253 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCGTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 70 238 0.8 0.8048592 0.8024296 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.1024936 -0.08363153 0.8427375 0.8954922 NA -0.09306258 NA FALSE NA 0.566 0.372 . downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1 NA CCT C,G 8.236e-06 21:42759011 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 missense_variant 4.451111 0.96584 0.63069 0.634777 0.9915029 0 0.002017364 FALSE 4.06458e-06 ENSE00002413004_008 ENSE00002413004 008 21 44179062 44179231 + 47 87 36 G C 44179124 349 63 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGCAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759013 42759014 42759014 exon 16 0.183908 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGCAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 69 105 0.8 0.8 0.8 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.1024936 -0.08849077 0.8427375 0.8954922 NA -0.0954922 NA FALSE NA 1 9.242 . downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1 NA GGA G,C 8.236e-06 21:42759014 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 missense_variant 4.399929 0.9944 0.99244 0.634777 0.9794309 0 0.002017364 FALSE 4.06415e-06 ENSE00002413004_009 ENSE00002413004 009 21 44179062 44179231 + 47 87 36 C T 44179138 350 77 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCATGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759027 42759028 42759028 exon 30 0.3448276 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCATGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 255 27 0.8006317 0.8 0.8003159 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.1018619 -0.08849077 0.8427375 0.8954922 NA -0.09517634 NA FALSE NA 0.02 -1.014 rs145600714 downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 rs145600714 1 NA T:0.0002 T:0.0001 ACG C,T 0.0001647 21:42759028 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 synonymous_variant 1.885622 0.7928 0.04709 0.634777 0.5661268 0 0.002017364 FALSE 0.000190984 ENSE00002413004_010 ENSE00002413004 010 21 44179062 44179231 + 47 87 36 G A 44179139 351 78 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACAACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759028 42759029 42759029 exon 31 0.3563218 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACAACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 121 31 0.8 0.8 0.8 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.1024936 -0.08849077 0.8427375 0.8954922 NA -0.0954922 NA FALSE NA 1 9.242 . downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1 NA CGA G,A 8.236e-06 21:42759029 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 missense_variant 5.503634 0.97167 0.9584 0.634777 0.9990497 0 0.002017364 FALSE 4.06316e-06 ENSE00002413004_012 ENSE00002413004 012 21 44179062 44179231 + 47 87 36 C T 44179165 353 104 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGTATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759054 42759055 42759055 exon -31 0.6551724 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGTATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 189 3960 0.7786474 0.7995585 0.789103 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.1238462 -0.08893223 0.8427375 0.8954922 NA -0.1063892 NA FALSE NA 0.999 0.731 . downstream_gene_variant MODIFIER PDE9A HGNC 8795 ENST00000460905 1 NA GCA C,T 8.236e-06 21:42759055 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 synonymous_variant 1.722947 0.92014 0.6645 0.634777 0.6145533 0 0.002017364 FALSE 4.06246e-06 ENSE00002413004_014 ENSE00002413004 014 21 44179062 44179231 + 47 87 36 G A 44179186 355 125 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGAAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759075 42759076 42759076 exon -10 0.8965517 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGAAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 117 118 0.8 0.7832482 0.7916241 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.1024936 -0.1052426 0.8427375 0.8954922 NA -0.1038681 NA FALSE NA 1 1.701 . synonymous_variant LOW PDE9A HGNC 8795 ENST00000335512 10/19 1 NA GGA G,A 8.236e-06 21:42759076 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 synonymous_variant 1.144699 0.91404 0.76853 0.634777 0.619113 0 0.002017364 FALSE 8.12869e-06 ENSE00002413004_015 ENSE00002413004 015 21 44179062 44179231 + 47 87 36 G C 44179188 356 127 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGACGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759077 42759078 42759078 exon -8 0.9195402 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGACGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 710 85 0.9984244 0.9981348 0.9982796 0.8388248 0.8466501 0.9024936 0.8884908 NA NA 0.09593079 0.109644 0.8427375 0.8954922 NA 0.1027874 NA FALSE NA 1 7.045 . missense_variant MODERATE PDE9A HGNC 8795 ENST00000335512 10/19 1 deleterious(0) benign(0.053) NA AGG G,C 8.236e-06 21:42759078 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 missense_variant 4.360395 0.97229 0.97109 0.634777 0.9560314 0 0.002017364 FALSE 4.06524e-06 ENSE00002413004_016 ENSE00002413004 016 21 44179062 44179231 + 47 87 36 G A 44179195 357 134 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTAGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759084 42759085 42759085 exon -1 1 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTAGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 20 157 0 0 0 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.9024936 -0.8884908 0.8427375 0.8954922 NA -0.8954922 NA TRUE NA 1 8.846 . splice_region_variant&synonymous_variant LOW PDE9A HGNC 8795 ENST00000335512 10/19 1 NA TGG G,A 8.236e-06 21:42759085 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 splice_region_variant 2.137689 0.97115 0.98121 0.634777 0.9575337 0 0.002017364 FALSE 4.06636e-06 ENSE00002413004_017 ENSE00002413004 017 21 44179062 44179231 + 47 87 36 T C 44179197 358 136 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGCGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 42759086 42759087 42759087 downstr_intron 2 1.057143 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGCGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 240 350 0.08127099 0 0.04063549 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.8212226 -0.8884908 0.8427375 0.8954922 NA -0.8548567 NA TRUE NA 1 7.197 . splice_donor_variant HIGH PDE9A HGNC 8795 ENST00000335512 10/18 1 NA HC GTG T,C 8.236e-06 21:42759087 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 splice_donor_variant 4.734305 0.9641 0.97438 0.060467 0.994252 0.915591 0.002017364 FALSE 4.0663e-06 ENSE00002413004_020 ENSE00002413004 020 21 44179062 44179231 + 47 87 36 G A 44179217 361 156 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCAGTTCTTCCTGGGCA 42758951 42759121 42759106 42759107 42759107 downstr_intron 22 1.628571 GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCAGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA mutant NA NA NA NA NA 302 158 0.8346528 0.8888116 0.8617322 0.8388248 0.8466501 0.9024936 0.8884908 NA NA -0.06784084 0.0003207854 0.8427375 0.8954922 NA -0.03376003 NA FALSE NA 0 -1.157 . intron_variant MODIFIER PDE9A HGNC 8795 ENST00000335512 10/18 1 NA CGG G,A 8.237e-06 21:42759107 PDE9A HGNC Symbol protein_coding 121873 ENSG00000160191 ENSE00003538925 intron_variant -0.248025 0.17396 0.03192 0.06567 0.5322604 0.0641293 0.002017364 FALSE 1.22776e-05 ENSE00002413004_BRK ENSE00002413004 BRK 21 44179062 44179231 + 47 87 36 A,G; T,T NA NA NA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACTTATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGCCGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA 42758951 42759121 NA NA NA NA NA NA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACTTATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGCCGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA GCCGGCCACACAACTGCCCAGTGCCTATCCTTCTCCTGTGCCCACAGATGCTGAGCTGCCTGGAGCACATGTACCACGACCTCGGGCTGGTCAGGGACTTCAGCATCAACCCTGTCACCCTCAGGAGGTGGCTGGTGAGTGCCAAACCCGCCTTCGGTTCTTCCTGGGCA control 693 146 0 0 0 NA NA NA NA NA 0.8388248 0.8466501 0.9024936 0.8884908 -0.8388248 -0.8466501 NA NA 0.8427375 0.8954922 -0.8427375 NA NA NA TRUE NA NA NA NA NA PDE9A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDE9A NA NA NA ENSG00000160191 ENSE00003538925 NA NA NA NA NA NA NA 0.002017364 FALSE NA ENSE00002413252_000 ENSE00002413252 000 2 85510570 85510739 + 48 84 38 NA NA NA NA NA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 NA NA NA NA NA NA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA natural 22 46 0.999615 0.9951238 0.9973694 944 1356 0.973396 0.9987803 0.9860881 0.999615 0.9951238 0.973396 0.9987803 0 0 0 0 0.9973694 0.9860881 0 0 0 FALSE FALSE NA NA NA NA NA TCF7L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TCF7L1 NA NA NA ENSG00000152284 ENSE00003512768 NA NA NA NA NA NA NA 0.753752 FALSE NA ENSE00002413252_006 ENSE00002413252 006 2 85510570 85510739 + 48 84 38 T C 85510611 1931 42 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCCGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 85283487 85283488 85283488 upstr_intron -7 -0.125 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCCGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA mutant NA NA NA NA NA 182 164 0.9988639 1 0.9994319 0.999615 0.9951238 0.973396 0.9987803 NA NA 0.02546787 0.001219749 0.9973694 0.9860881 NA 0.01334381 NA FALSE NA 0.001 0.382 . splice_region_variant&intron_variant LOW TCF7L1 HGNC 11640 ENST00000442813 4/5 1 NA CTG T,C 8.236e-06 2:85283488 TCF7L1 HGNC Symbol protein_coding 176978 ENSG00000152284 ENSE00003512768 splice_region_variant -0.01762 0.1968 0.06808 0.091178 0.6155979 0.400305 0.753752 FALSE 4.06078e-06 ENSE00002413252_007 ENSE00002413252 007 2 85510570 85510739 + 48 84 38 G A 85510614 1932 45 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTACAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 85283490 85283491 85283491 upstr_intron -4 -0.0625 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTACAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA mutant NA NA NA NA NA 107 26 0.9985647 1 0.9992824 0.999615 0.9951238 0.973396 0.9987803 NA NA 0.02516871 0.001219749 0.9973694 0.9860881 NA 0.01319423 NA FALSE NA 0.102 0.482 . splice_region_variant&intron_variant LOW TCF7L1 HGNC 11640 ENST00000442813 4/5 1 NA TGC G,A 8.236e-06 2:85283491 TCF7L1 HGNC Symbol protein_coding 176978 ENSG00000152284 ENSE00003512768 splice_region_variant 0.159213 0.24143 0.27315 0.091178 0.6184394 0.398632 0.753752 FALSE 4.06085e-06 ENSE00002413252_010 ENSE00002413252 010 2 85510570 85510739 + 48 84 38 A G 85510627 1935 58 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGGTGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 85283503 85283504 85283504 exon 10 0.1190476 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGGTGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA mutant NA NA NA NA NA 21 12 1 0.95 0.975 0.999615 0.9951238 0.973396 0.9987803 NA NA 0.02660398 -0.04878025 0.9973694 0.9860881 NA -0.01108814 NA FALSE NA 1 3.38 . start_lost LOW TCF7L1 HGNC 11640 ENST00000442813 5/6 1 NA GAT A,G 1.647e-05 2:85283504 TCF7L1 HGNC Symbol protein_coding 176978 ENSG00000152284 ENSE00003512768 start_lost 2.291952 0.98309 0.85459 0.719381 0.9650647 0 0.753752 FALSE 1.62427e-05 ENSE00002413252_013 ENSE00002413252 013 2 85510570 85510739 + 48 84 38 C T 85510644 1938 75 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTTGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 85283520 85283521 85283521 exon 27 0.3214286 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTTGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA mutant NA NA NA NA NA 152 218 0.9955859 0.9934573 0.9945216 0.999615 0.9951238 0.973396 0.9987803 NA NA 0.02218984 -0.005322917 0.9973694 0.9860881 NA 0.008433463 NA FALSE NA 0.764 -0.617 . synonymous_variant LOW TCF7L1 HGNC 11640 ENST00000442813 5/6 rs199928743 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 TCG C,T 4.942e-05 2:85283521 TCF7L1 HGNC Symbol protein_coding 176978 ENSG00000152284 ENSE00003512768 synonymous_variant 2.542621 0.96038 0.31519 0.719381 0.7355066 0 0.753752 FALSE 5.27914e-05 ENSE00002413252_016 ENSE00002413252 016 2 85510570 85510739 + 48 84 38 G A 85510648 1941 79 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATATCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 85283524 85283525 85283525 exon 31 0.3690476 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATATCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA mutant NA NA NA NA NA 14 247 1 1 1 0.999615 0.9951238 0.973396 0.9987803 NA NA 0.02660398 0.001219749 0.9973694 0.9860881 NA 0.01391186 NA FALSE NA 1 5.173 . missense_variant MODERATE TCF7L1 HGNC 11640 ENST00000442813 5/6 rs202139542 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 8.236e-06 2:85283525 TCF7L1 HGNC Symbol protein_coding 176978 ENSG00000152284 ENSE00003512768 missense_variant 5.109869 0.98493 0.9135 0.719381 0.9970978 0 0.753752 FALSE 4.06095e-06 ENSE00002413252_019 ENSE00002413252 019 2 85510570 85510739 + 48 84 38 C G 85510656 1944 87 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCGAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 85283532 85283533 85283533 exon 39 0.4642857 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCGAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA mutant NA NA NA NA NA 181 196 1 1 1 0.999615 0.9951238 0.973396 0.9987803 NA NA 0.02660398 0.001219749 0.9973694 0.9860881 NA 0.01391186 NA FALSE NA 1 0.676 . synonymous_variant LOW TCF7L1 HGNC 11640 ENST00000442813 5/6 rs199724004 1 NA CCA C,G 8.236e-06 2:85283533 TCF7L1 HGNC Symbol protein_coding 176978 ENSG00000152284 ENSE00003512768 synonymous_variant 1.492272 0.95999 0.62447 0.719381 0.6748935 0 0.753752 FALSE 4.06075e-06 ENSE00002413252_020 ENSE00002413252 020 2 85510570 85510739 + 48 84 38 C T 85510659 1945 90 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGTGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 85283535 85283536 85283536 exon 42 0.5 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGTGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA mutant NA NA NA NA NA 295 164 1 0.9990344 0.9995172 0.999615 0.9951238 0.973396 0.9987803 NA NA 0.02660398 0.0002541777 0.9973694 0.9860881 NA 0.01342908 NA FALSE NA 0.001 -2.079 . synonymous_variant LOW TCF7L1 HGNC 11640 ENST00000442813 5/6 1 NA GCG C,T 8.236e-06 2:85283536 TCF7L1 HGNC Symbol protein_coding 176978 ENSG00000152284 ENSE00003512768 synonymous_variant 2.113699 0.10405 0.00422 0.719381 0.5825908 0 0.753752 FALSE 4.06088e-06 ENSE00002413252_027 ENSE00002413252 027 2 85510570 85510739 + 48 84 38 C T 85510691 1952 122 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCTAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA 85283446 85283616 85283567 85283568 85283568 exon -11 0.8809524 TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCTAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA TGAGGCCTCATCTCACCAACAGCTTTTTCTTTTCTGTTCCCTGTGCAGTACCTGCAGATGAAATGGCCCCTCCTCGATGTCCCCTCCAGCGCCACAGTCAAGGACACGAGGTCACCATCTCCAGCACACTTGGTAAGTCTGTTTCACCTTAAAGCACCAAAGGGCCACTA mutant NA NA NA NA NA 41 73 1 1 1 0.999615 0.9951238 0.973396 0.9987803 NA NA 0.02660398 0.001219749 0.9973694 0.9860881 NA 0.01391186 NA FALSE NA 0.981 4.083 . missense_variant MODERATE TCF7L1 HGNC 11640 ENST00000442813 5/6 1 NA CCA C,T 1.647e-05 2:85283568 TCF7L1 HGNC Symbol protein_coding 176978 ENSG00000152284 ENSE00003512768 missense_variant 7.024234 0.98464 0.86548 0.706548 0.9963205 0 0.753752 FALSE 1.62447e-05 ENSE00002413461_000 ENSE00002413461 000 5 112151151 112151320 + 41 99 30 NA NA NA NA NA TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 NA NA NA NA NA NA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA natural NA NA NA NA NA 4007 3022 0.9474355 0.984825 0.9661303 NA NA 0.9474355 0.984825 NA NA 0 0 NA 0.9661303 NA 0 NA FALSE NA NA NA NA NA NA APC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APC NA NA NA ENSG00000134982 ENSE00003503194 NA NA NA NA NA NA NA 0.9999999 TRUE NA ENSE00002413461_003 ENSE00002413461 003 5 112151151 112151320 + 41 99 30 A G 112151172 983 22 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTACAGATGGTATAATTTAGACTAT 112815453 112815623 112815474 112815475 112815475 upstr_intron -20 -0.4634146 ATAGTCTAAATTATACCATCTGTAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 627 925 1 0.932813 0.9664065 NA NA 0.9474355 0.984825 NA NA 0.05256451 -0.05201202 NA 0.9661303 NA 0.0002762428 NA FALSE NA 0 -0.292 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 8/15 1 NA TAT A,G 8.237e-06 5:112815475 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 intron_variant -0.189749 0.21139 0.10482 0.099367 0.5862944 0.119696 0.9999999 TRUE 1.62858e-05 ENSE00002413461_005 ENSE00002413461 005 5 112151151 112151320 + 41 99 30 T G 112151188 985 38 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTACAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815490 112815491 112815491 upstr_intron -4 -0.07317073 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTGTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 1264 1445 0.9989863 0.9998154 0.9994009 NA NA 0.9474355 0.984825 NA NA 0.05155081 0.01499039 NA 0.9661303 NA 0.0332706 NA FALSE NA 1 0.817 . splice_region_variant&intron_variant LOW APC HGNC 583 ENST00000457016 8/15 1 NA TTT T,G 3.295e-05 5:112815491 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 splice_region_variant 1.06297 0.94388 0.47963 0.099367 0.7531425 0.465033 0.9999999 TRUE 2.44176e-05 ENSE00002413461_006 ENSE00002413461 006 5 112151151 112151320 + 41 99 30 T C 112151189 986 39 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTGAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815491 112815492 112815492 upstr_intron -3 -0.04878049 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTCAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 478 238 1 1 1 NA NA 0.9474355 0.984825 NA NA 0.05256451 0.01517496 NA 0.9661303 NA 0.03386973 NA FALSE NA 1 1.23 . splice_region_variant&intron_variant LOW APC HGNC 583 ENST00000457016 8/15 rs372090940 1 NA C:0 C:0.0001 TTA T,C 2.471e-05 5:112815492 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 splice_region_variant 1.560418 0.97343 0.5828 0.099367 0.8544441 0.840054 0.9999999 TRUE 2.03477e-05 ENSE00002413461_007 ENSE00002413461 007 5 112151151 112151320 + 41 99 30 G A 112151193 987 43 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAATCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815495 112815496 112815496 exon 2 0.02020202 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGATTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 189 995 1 0.9880469 0.9940235 NA NA 0.9474355 0.984825 NA NA 0.05256451 0.00322187 NA 0.9661303 NA 0.02789319 NA FALSE NA 1 6.787 . missense_variant&splice_region_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 benign(0.088) NA GGT G,A 8.237e-06 5:112815496 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 3.056631 0.98887 0.98981 0.706548 0.996038 0 0.9999999 TRUE 4.06924e-06 ENSE00002413461_008 ENSE00002413461 008 5 112151151 112151320 + 41 99 30 A G 112151198 988 48 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGCTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815500 112815501 112815501 exon 7 0.07070707 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAGCTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 1212 1328 0.9995577 0.9919651 0.9957614 NA NA 0.9474355 0.984825 NA NA 0.05212226 0.007140084 NA 0.9661303 NA 0.02963117 NA FALSE NA 0 -0.996 NA NA NA APC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:112815501 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant -0.766493 0.19812 0.01289 0.706548 0.274802 0 0.9999999 TRUE 4.06858e-06 ENSE00002413461_010 ENSE00002413461 010 5 112151151 112151320 + 41 99 30 G A 112151205 990 55 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTTGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815507 112815508 112815508 exon 14 0.1414141 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACAAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 350 538 0.9852489 1 0.9926244 NA NA 0.9474355 0.984825 NA NA 0.03781336 0.01517496 NA 0.9661303 NA 0.02649416 NA FALSE NA 1 5.845 rs149154604 missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 rs149154604 1 benign(0.015) NA CGA G,A 6.589e-05 5:112815508 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 3.836281 0.98316 0.96673 0.722319 0.9978469 0 0.9999999 TRUE 7.72961e-05 ENSE00002413461_011 ENSE00002413461 011 5 112151151 112151320 + 41 99 30 G T 112151209 991 59 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCAATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815511 112815512 112815512 exon 18 0.1818182 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATTGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 1050 111 0.9984216 0.9823292 0.9903754 NA NA 0.9474355 0.984825 NA NA 0.05098613 -0.002495881 NA 0.9661303 NA 0.02424512 NA FALSE NA 1 4.518 . missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 benign(0) NA TGG G,T 8.237e-06 5:112815512 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 1.793328 0.97982 0.97549 0.722319 0.959881 0 0.9999999 TRUE 4.06752e-06 ENSE00002413461_012 ENSE00002413461 012 5 112151151 112151320 + 41 99 30 G A 112151210 992 60 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTTCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815512 112815513 112815513 exon 19 0.1919192 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGAACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 972 372 0.9958753 0.9821578 0.9890166 NA NA 0.9474355 0.984825 NA NA 0.04843977 -0.002667198 NA 0.9661303 NA 0.02288628 NA FALSE NA 1 9.564 . missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 probably_damaging(0.933) NA GGA G,A 8.237e-06 5:112815513 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 5.710417 0.99385 0.99223 0.722319 0.9992339 0 0.9999999 TRUE 4.06752e-06 ENSE00002413461_015 ENSE00002413461 015 5 112151151 112151320 + 41 99 30 G T 112151233 995 83 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTAAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815535 112815536 112815536 exon 42 0.4242424 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTTAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 742 312 0.8753701 0.9072353 0.8913027 NA NA 0.9474355 0.984825 NA NA -0.07206542 -0.07758973 NA 0.9661303 NA -0.07482757 NA FALSE NA 1 2.552 . missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 benign(0.14) NA TGA G,T 8.237e-06 5:112815536 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 2.58705 0.98606 0.94284 0.722319 0.9953163 0 0.9999999 TRUE 4.06772e-06 ENSE00002413461_016 ENSE00002413461 016 5 112151151 112151320 + 41 99 30 A G 112151240 996 90 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACCAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815542 112815543 112815543 exon 49 0.4949495 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTGGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 28 797 1 0.9987002 0.9993501 NA NA 0.9474355 0.984825 NA NA 0.05256451 0.01387519 NA 0.9661303 NA 0.03321985 NA FALSE NA 1 0.772 . missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 benign(0) NA TAG A,G 1.647e-05 5:112815543 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 1.32955 0.97168 0.8473 0.722319 0.9581326 0 0.9999999 TRUE 2.03368e-05 ENSE00002413461_017 ENSE00002413461 017 5 112151151 112151320 + 41 99 30 G T 112151241 997 91 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTAATAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815543 112815544 112815544 exon -50 0.5050505 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTATTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 2100 167 0.9980037 0.9971482 0.997576 NA NA 0.9474355 0.984825 NA NA 0.05056825 0.01232319 NA 0.9661303 NA 0.03144572 NA FALSE NA 1 2.687 . missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 benign(0.088) NA AGT G,T 8.237e-06 5:112815544 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 3.228534 0.9754 0.93912 0.722319 0.9865419 0 0.9999999 TRUE 8.13478e-06 ENSE00002413461_019 ENSE00002413461 019 5 112151151 112151320 + 41 99 30 T A 112151252 999 102 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGTGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815554 112815555 112815555 exon -39 0.6161616 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACACTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 37 379 1 0.908943 0.9544715 NA NA 0.9474355 0.984825 NA NA 0.05256451 -0.07588202 NA 0.9661303 NA -0.01165876 NA FALSE NA 1 4.953 . missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 benign(0.342) NA CTC T,A 1.647e-05 5:112815555 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 3.271906 0.98691 0.97077 0.722319 0.9957031 0 0.9999999 TRUE 8.13372e-06 ENSE00002413461_021 ENSE00002413461 021 5 112151151 112151320 + 41 99 30 T G 112151275 1001 125 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGCCTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815577 112815578 112815578 exon -16 0.8484848 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGGCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 1084 325 0.7122857 0.768147 0.7402164 NA NA 0.9474355 0.984825 NA NA -0.2351498 -0.216678 NA 0.9661303 NA -0.2259139 NA FALSE NA 1 2.588 . missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 possibly_damaging(0.767) NA GTC T,G 2.471e-05 5:112815578 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 5.728551 0.98021 0.9254 0.722319 0.9982314 0 0.9999999 TRUE 2.43998e-05 ENSE00002413461_022 ENSE00002413461 022 5 112151151 112151320 + 41 99 30 A G 112151285 1002 135 TAGTGACCAGGGTTTGTAATCTTCTGTTACCTTGGCTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815587 112815588 112815588 exon -6 0.9494949 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAGCCAAGGTAACAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 626 107 0.9988106 0.9971029 0.9979568 NA NA 0.9474355 0.984825 NA NA 0.05137514 0.01227786 NA 0.9661303 NA 0.0318265 NA FALSE NA 1 9.053 . missense_variant MODERATE APC HGNC 583 ENST00000457016 9/16 1 benign(0.168) NA AAC A,G 8.237e-06 5:112815588 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 missense_variant 4.006992 0.99187 0.99189 0.722319 0.9967176 0 0.9999999 TRUE 4.06696e-06 ENSE00002413461_023 ENSE00002413461 023 5 112151151 112151320 + 41 99 30 C T 112151295 1003 145 TAGTGACCAGGGTTTGTAATCTTCTATTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815597 112815598 112815598 downstr_intron 5 1.172414 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAATAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 124 351 0.9888717 1 0.9944358 NA NA 0.9474355 0.984825 NA NA 0.04143619 0.01517496 NA 0.9661303 NA 0.02830557 NA FALSE NA 0.999 2.686 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:112815598 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 splice_region_variant 1.000938 0.95929 0.86773 0.099367 0.6357385 0.456009 0.9999999 TRUE 8.13557e-06 ENSE00002413461_024 ENSE00002413461 024 5 112151151 112151320 + 41 99 30 C A 112151295 1004 145 TAGTGACCAGGGTTTGTAATCTTCTTTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815597 112815598 112815598 downstr_intron 5 1.172414 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAAAAGAAGATTACAAACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 311 870 0.9945837 0.9977281 0.9961559 NA NA 0.9474355 0.984825 NA NA 0.04714823 0.01290308 NA 0.9661303 NA 0.03002565 NA FALSE NA 0.999 2.686 NA NA NA APC NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA APC NA NA NA ENSG00000134982 ENSE00003503194 splice_region_variant 1.186317 0.96095 0.94264 0.099367 0.672624 0.456009 0.9999999 TRUE 4.06779e-06 ENSE00002413461_027 ENSE00002413461 027 5 112151151 112151320 + 41 99 30 A C 112151307 1007 157 TAGTGACCAGGGTGTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815609 112815610 112815610 downstr_intron 17 1.586207 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACACACCCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 47 1115 0.9991211 1 0.9995605 NA NA 0.9474355 0.984825 NA NA 0.0516856 0.01517496 NA 0.9661303 NA 0.03343028 NA FALSE NA 0.834 3.436 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 9/15 rs373881194 1 NA C:0.0002 C:0 AAA A,C 8.238e-06 5:112815610 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 intron_variant 0.074767 0.3668 0.52874 0.099367 0.5111892 0.0870774 0.9999999 TRUE 4.07073e-06 ENSE00002413461_028 ENSE00002413461 028 5 112151151 112151320 + 41 99 30 C A 112151309 1008 159 TAGTGACCAGGTTTTGTAATCTTCTGTTACCTTGGTTCCCAGATGACTTGTCAGCCTTCGAGGTGCAGAGTGTGTGCTACTAGAACTCAAAACACTGGCTGTTTCATGGTCCATTCGTGTAGTTGAACCCTAAAAATTAAGCACATTATAGATGGTATAATTTAGACTAT 112815453 112815623 112815611 112815612 112815612 downstr_intron 19 1.655172 ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAAACCTGGTCACTA ATAGTCTAAATTATACCATCTATAATGTGCTTAATTTTTAGGGTTCAACTACACGAATGGACCATGAAACAGCCAGTGTTTTGAGTTCTAGTAGCACACACTCTGCACCTCGAAGGCTGACAAGTCATCTGGGAACCAAGGTAACAGAAGATTACAAACCCTGGTCACTA mutant NA NA NA NA NA 913 223 0.9995031 1 0.9997516 NA NA 0.9474355 0.984825 NA NA 0.05206763 0.01517496 NA 0.9661303 NA 0.03362129 NA FALSE NA 0.171 0.382 . intron_variant MODIFIER APC HGNC 583 ENST00000457016 9/15 1 NA ACC C,A 6.591e-05 5:112815612 APC HGNC Symbol protein_coding 138741 ENSG00000134982 ENSE00003503194 intron_variant 0.193281 0.23525 0.2027 0.099367 0.4881342 0.0870774 0.9999999 TRUE 5.29187e-05 ENSE00002414607_000 ENSE00002414607 000 17 15546003 15546172 - 32 96 42 NA NA NA NA NA ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCACTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCCATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA 15642688 15642858 NA NA NA NA NA NA ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCACTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCCATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCACTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCCATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA natural NA NA NA NA NA 545 1947 1 0.9968625 0.9984312 NA NA 1 0.9968625 NA NA 0 0 NA 0.9984312 NA 0 NA FALSE NA NA NA NA NA NA TRIM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRIM16 NA NA NA ENSG00000221926 ENSE00003609122 NA NA NA NA NA NA NA 0.0001147787 FALSE NA ENSE00002415091_000 ENSE00002415091 000 6 135514926 135515095 + 50 81 39 NA NA NA NA NA GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 NA NA NA NA NA NA GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT natural 239 242 0.9975752 0.9958056 0.9966904 6027 8845 0.9398251 0.9487065 0.9442658 0.9975752 0.9958056 0.9398251 0.9487065 0 0 0 0 0.9966904 0.9442658 0 0 0 FALSE FALSE NA NA NA NA NA MYB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYB NA NA NA ENSG00000118513 ENSE00003584128 NA NA NA NA NA NA NA 0.8818475 FALSE NA ENSE00002415091_001 ENSE00002415091 001 6 135514926 135515095 + 50 81 39 C T 135514937 2211 12 GCATATGTAGCTCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193798 135193799 135193799 upstr_intron -39 -0.76 GCATATGTAGCTCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 697 1183 0.9981551 0.9149448 0.9565499 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05833 -0.03376176 0.9966904 0.9442658 NA 0.01228412 NA FALSE NA 0 -0.316 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 6/15 rs368076039 1 NA T:0 T:0.0001 CCC C,T 8.236e-06 6:135193799 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant 0.61064 0.19411 0.02743 0.156188 0.7129093 0.0978179 0.8818475 FALSE NA ENSE00002415091_002 ENSE00002415091 002 6 135514926 135515095 + 50 81 39 C T 135514938 2212 13 GCATATGTAGCCTTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193799 135193800 135193800 upstr_intron -38 -0.74 GCATATGTAGCCTTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 1575 2512 0.8937387 0.9980594 0.945899 0.9975752 0.9958056 0.9398251 0.9487065 NA NA -0.04608643 0.04935286 0.9966904 0.9442658 NA 0.00163322 NA FALSE NA 0 -0.945 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 6/15 1 NA CCT C,T 1.647e-05 6:135193800 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant 0.293508 0.23918 0.02781 0.156188 0.7066584 0.157345 0.8818475 FALSE 2.04265e-05 ENSE00002415091_003 ENSE00002415091 003 6 135514926 135515095 + 50 81 39 T C 135514939 2213 14 GCATATGTAGCCCCGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193800 135193801 135193801 upstr_intron -37 -0.72 GCATATGTAGCCCCGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 955 2238 0.9978614 0.9982922 0.9980768 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05803628 0.04958573 0.9966904 0.9442658 NA 0.053811 NA FALSE NA 0 0.129 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 6/15 1 NA CTG T,C 8.236e-06 6:135193801 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant 0.330093 0.20518 0.13635 0.295142 0.5773234 0.247132 0.8818475 FALSE 1.2248e-05 ENSE00002415091_004 ENSE00002415091 004 6 135514926 135515095 + 50 81 39 C T 135514946 2214 21 GCATATGTAGCCCTGAATGATGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193807 135193808 135193808 upstr_intron -30 -0.58 GCATATGTAGCCCTGAATGATGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 1910 534 0.9958122 0.994846 0.9953291 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05598709 0.04613951 0.9966904 0.9442658 NA 0.0510633 NA FALSE NA 0 -0.129 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 6/15 1 NA ACG C,T 8.236e-06 6:135193808 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant 0.087167 0.18441 0.0567 0.295142 0.7127932 0.261674 0.8818475 FALSE 8.15914e-06 ENSE00002415091_005 ENSE00002415091 005 6 135514926 135515095 + 50 81 39 G A 135514947 2215 22 GCATATGTAGCCCTGAATGACATGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193808 135193809 135193809 upstr_intron -29 -0.56 GCATATGTAGCCCTGAATGACATGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 1285 168 0.9862443 0.9981125 0.9921784 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.04641916 0.04940602 0.9966904 0.9442658 NA 0.04791259 NA FALSE NA 0 -0.279 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 6/15 1 NA CGT G,A 2.471e-05 6:135193809 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant 0.309811 0.19892 0.02782 0.295142 0.6085047 0.180435 0.8818475 FALSE 1.22367e-05 ENSE00002415091_007 ENSE00002415091 007 6 135514926 135515095 + 50 81 39 C T 135514951 2217 26 GCATATGTAGCCCTGAATGACGTGGTCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193812 135193813 135193813 upstr_intron -25 -0.48 GCATATGTAGCCCTGAATGACGTGGTCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 3103 210 0.8473391 1 0.9236696 0.9975752 0.9958056 0.9398251 0.9487065 NA NA -0.09248603 0.05129348 0.9966904 0.9442658 NA -0.02059628 NA FALSE NA 0.012 -0.286 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 6/15 rs371484465 1 NA T:0.0002 T:0 GCC C,T 1.647e-05 6:135193813 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant 0.556804 0.17928 0.05079 0.295142 0.7340394 0.255534 0.8818475 FALSE 1.22226e-05 ENSE00002415091_008 ENSE00002415091 008 6 135514926 135515095 + 50 81 39 T C 135514957 2218 32 GCATATGTAGCCCTGAATGACGTGGCCTTTGCTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193818 135193819 135193819 upstr_intron -19 -0.36 GCATATGTAGCCCTGAATGACGTGGCCTTTGCTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 3169 977 0.9609502 0.9858463 0.9733982 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.02112503 0.03713974 0.9966904 0.9442658 NA 0.02913238 NA FALSE NA 1 1.576 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 6/15 1 NA GTT T,C 1.648e-05 6:135193819 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant 0.482901 0.97843 0.71558 0.295142 0.584821 0.224546 0.8818475 FALSE 8.14094e-06 ENSE00002415091_009 ENSE00002415091 009 6 135514926 135515095 + 50 81 39 T C 135514962 2219 37 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGCCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193823 135193824 135193824 upstr_intron -14 -0.26 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGCCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 1717 308 0.9839887 0.9281484 0.9560686 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.04416357 -0.02055812 0.9966904 0.9442658 NA 0.01180273 NA FALSE NA 0 -0.643 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 6/15 1 NA GTC T,C 8.236e-06 6:135193824 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant -0.169296 0.11932 0.00351 0.295142 0.4672035 0.15801 0.8818475 FALSE 4.06908e-06 ENSE00002415091_010 ENSE00002415091 010 6 135514926 135515095 + 50 81 39 G T 135514968 2220 43 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTTCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193829 135193830 135193830 upstr_intron -8 -0.14 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTTCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 682 2036 1 0.9967686 0.9983843 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.06017486 0.04806212 0.9966904 0.9442658 NA 0.05411849 NA FALSE NA 0 0.177 . splice_region_variant&intron_variant&NMD_transcript_variant LOW MYB HGNC 7545 ENST00000533384 6/15 1 NA TGC G,T 8.236e-06 6:135193830 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 splice_region_variant -0.147123 0.07009 0.00065 0.295142 0.7654282 0.1496 0.8818475 FALSE 4.06838e-06 ENSE00002415091_011 ENSE00002415091 011 6 135514926 135515095 + 50 81 39 G A 135514976 2221 51 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGATCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193837 135193838 135193838 exon 1 0.01234568 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGATCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 535 472 0.9974336 0.9496056 0.9735196 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05760843 0.0008990613 0.9966904 0.9442658 NA 0.02925374 NA FALSE NA 1 2.155 rs142284572 missense_variant&splice_region_variant&NMD_transcript_variant MODERATE MYB HGNC 7545 ENST00000533384 7/16 rs142284572 1 tolerated(0.23) benign(0.002) NA A:0.0005 A:0 GGT G,A 4.942e-05 6:135193838 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 missense_variant 2.004763 0.97124 0.80447 0.706548 0.9681982 0 0.8818475 FALSE 2.03315e-05 ENSE00002415091_012 ENSE00002415091 012 6 135514926 135515095 + 50 81 39 A G 135514986 2222 61 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCGTGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193847 135193848 135193848 exon 11 0.1358025 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCGTGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 192 1052 1 0.9941867 0.9970933 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.06017486 0.04548017 0.9966904 0.9442658 NA 0.05282752 NA FALSE NA 1 3.922 . missense_variant&NMD_transcript_variant MODERATE MYB HGNC 7545 ENST00000533384 7/16 1 tolerated(0.13) benign(0.001) NA CAT A,G 8.236e-06 6:135193848 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 missense_variant 1.331547 0.97019 0.97024 0.706548 0.920777 0 0.8818475 FALSE 8.12711e-06 ENSE00002415091_013 ENSE00002415091 013 6 135514926 135515095 + 50 81 39 G T 135514988 2223 63 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATTTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193849 135193850 135193850 exon 13 0.1604938 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATTTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 2200 784 0.9993058 0.9959663 0.9976361 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05948067 0.04725978 0.9966904 0.9442658 NA 0.05337023 NA FALSE NA 1 3.152 . missense_variant&NMD_transcript_variant MODERATE MYB HGNC 7545 ENST00000533384 7/16 1 deleterious(0.04) benign(0.128) NA TGT G,T 8.236e-06 6:135193850 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 missense_variant 4.992663 0.97722 0.95349 0.706548 0.9907172 0 0.8818475 FALSE 4.06369e-06 ENSE00002415091_014 ENSE00002415091 014 6 135514926 135515095 + 50 81 39 G A 135515005 2224 80 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCATTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193866 135193867 135193867 exon 30 0.3703704 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCATTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 1475 510 0.9827886 0.999551 0.9911698 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.04296348 0.05084449 0.9966904 0.9442658 NA 0.04690398 NA FALSE NA 0.995 0.305 . synonymous_variant&NMD_transcript_variant LOW MYB HGNC 7545 ENST00000533384 7/16 rs201620998 1 NA CGT G,A 4.942e-05 6:135193867 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 synonymous_variant 1.967674 0.95404 0.56854 0.706548 0.8257131 0 0.8818475 FALSE 9.7519e-05 ENSE00002415091_015 ENSE00002415091 015 6 135514926 135515095 + 50 81 39 A G 135515018 2225 93 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATGTAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193879 135193880 135193880 exon -39 0.5308642 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATGTAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 624 1913 0.9995374 0.9348405 0.967189 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05971229 -0.01386602 0.9966904 0.9442658 NA 0.02292313 NA FALSE NA 1 7.407 . missense_variant&NMD_transcript_variant MODERATE MYB HGNC 7545 ENST00000533384 7/16 1 tolerated(0.07) benign(0.439) NA TAT A,G 8.236e-06 6:135193880 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 missense_variant 4.021449 0.99019 0.98716 0.706548 0.99899 0 0.8818475 FALSE 8.12539e-06 ENSE00002415091_016 ENSE00002415091 016 6 135514926 135515095 + 50 81 39 C T 135515044 2226 119 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCTGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193905 135193906 135193906 exon -13 0.8518519 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCTGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 748 644 0.9572606 1 0.9786303 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.0174355 0.05129348 0.9966904 0.9442658 NA 0.03436449 NA FALSE NA 1 1.651 . synonymous_variant&NMD_transcript_variant LOW MYB HGNC 7545 ENST00000533384 7/16 1 NA CCG C,T 8.236e-06 6:135193906 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 synonymous_variant 2.758584 0.92107 0.13854 0.706548 0.8267287 0 0.8818475 FALSE 1.21936e-05 ENSE00002415091_017 ENSE00002415091 017 6 135514926 135515095 + 50 81 39 G A 135515045 2227 120 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCACAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193906 135193907 135193907 exon -12 0.8641975 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCACAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 1656 1021 0.9955717 0.9997704 0.9976711 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05574661 0.05106388 0.9966904 0.9442658 NA 0.05340524 NA FALSE NA 1 7.824 . missense_variant&NMD_transcript_variant MODERATE MYB HGNC 7545 ENST00000533384 7/16 1 deleterious(0.05) probably_damaging(0.913) NA CGC G,A 6.589e-05 6:135193907 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 missense_variant 7.178349 0.99216 0.98752 0.706548 0.9991151 0 0.8818475 FALSE 9.35051e-05 ENSE00002415091_018 ENSE00002415091 018 6 135514926 135515095 + 50 81 39 A G 135515047 2228 122 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCGGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193908 135193909 135193909 exon -10 0.8888889 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCGGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 3929 234 0.9984182 0.9825421 0.9904801 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05859304 0.03383559 0.9966904 0.9442658 NA 0.04621431 NA FALSE NA 0.836 -0.061 . synonymous_variant&NMD_transcript_variant LOW MYB HGNC 7545 ENST00000533384 7/16 1 NA CAG A,G 8.236e-06 6:135193909 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 synonymous_variant 0.546868 0.88446 0.57492 0.706548 0.5698334 0 0.8818475 FALSE 4.06454e-06 ENSE00002415091_020 ENSE00002415091 020 6 135514926 135515095 + 50 81 39 C G 135515049 2230 124 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGGCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193910 135193911 135193911 exon -8 0.9135802 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGGCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 1166 904 0.9980227 0.999825 0.9989239 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05819759 0.05111849 0.9966904 0.9442658 NA 0.05465804 NA FALSE NA 1 6.204 . missense_variant&NMD_transcript_variant MODERATE MYB HGNC 7545 ENST00000533384 7/16 1 tolerated(0.25) benign(0.06) NA GCC C,G 8.236e-06 6:135193911 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 missense_variant 4.730103 0.992 0.98486 0.706548 0.9954589 0 0.8818475 FALSE 8.13021e-06 ENSE00002415091_021 ENSE00002415091 021 6 135514926 135515095 + 50 81 39 C T 135515071 2231 146 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATTATTCACTGTTCAAAGCACCACTTT 135193787 135193957 135193932 135193933 135193933 downstr_intron 15 1.394737 GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATTATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT mutant NA NA NA NA NA 2371 74 0.9992687 0.9978568 0.9985627 0.9975752 0.9958056 0.9398251 0.9487065 NA NA 0.05944358 0.04915024 0.9966904 0.9442658 NA 0.05429691 NA FALSE NA 0 -0.125 . intron_variant&NMD_transcript_variant MODIFIER MYB HGNC 7545 ENST00000533384 7/15 1 NA TCA C,T 1.647e-05 6:135193933 MYB HGNC Symbol protein_coding 37858 ENSG00000118513 ENSE00003584128 intron_variant 0.477282 0.18115 0.05054 0.099367 0.6713131 0.0692249 0.8818475 FALSE NA ENSE00002415091_BRK ENSE00002415091 BRK 6 135514926 135515095 + 50 81 39 A,G; T,T NA NA NA GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTTTGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGCCAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT 135193787 135193957 NA NA NA NA NA NA GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTTTGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGCCAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT GCATATGTAGCCCTGAATGACGTGGCCTTTGTTTTGTCTTTTGCATCTAGGTCTCCAGTCATGTTCCATACCCTGTAGCGTTACATGTAAATATAGTCAATGTCCCTCAGCCAGCTGCCGCAGCCATTCAGGTAAGATCATTGATCATTCACTGTTCAAAGCACCACTTT control 108 70 0 0 0 1422 1959 0.04450365 0 0.02225182 0.9975752 0.9958056 0.9398251 0.9487065 -0.9975752 -0.9958056 -0.8953215 -0.9487065 0.9966904 0.9442658 -0.9966904 -0.922014 0.0746764 TRUE TRUE NA NA NA NA NA MYB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYB NA NA NA ENSG00000118513 ENSE00003584128 NA NA NA NA NA NA NA 0.8818475 FALSE NA ENSE00002415750_000 ENSE00002415750 000 2 63821581 63821750 + 41 99 30 NA NA NA NA NA CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT 63594446 63594616 NA NA NA NA NA NA CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT natural 353 528 0.8456235 0.8626647 0.8541441 8376 9203 0.8850562 0.7964168 0.8407365 0.8456235 0.8626647 0.8850562 0.7964168 0 0 0 0 0.8541441 0.8407365 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003573337 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002415750_012 ENSE00002415750 012 2 63821581 63821750 + 41 99 30 G T 63821731 1316 151 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGTTGTCTATAAATCTTAAGTT 63594446 63594616 63594596 63594597 63594597 downstr_intron 11 1.37931 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGTTGTCTATAAATCTTAAGTT CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT mutant NA NA NA NA NA 550 175 0.9998503 0.9997822 0.9998162 0.8456235 0.8626647 0.8850562 0.7964168 NA NA 0.1147941 0.2033655 0.8541441 0.8407365 NA 0.1590798 NA FALSE NA 0.004 -0.232 NA NA NA MDH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDH1 NA NA NA ENSG00000014641 ENSE00003573337 non_coding_transcript_exon_variant -0.16885 0.10792 0.02004 0.322412 0.645405 0.184582 0.9826346 TRUE 4.12177e-06 ENSE00002415750_BRK ENSE00002415750 BRK 2 63821581 63821750 + 41 99 30 A,G; T,T NA NA NA CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACTTTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCCAGGAACAGGTGTCTATAAATCTTAAGTT 63594446 63594616 NA NA NA NA NA NA CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACTTTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCCAGGAACAGGTGTCTATAAATCTTAAGTT CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT control NA NA NA NA NA 999 402 0 0.04709222 0.02354611 0.8456235 0.8626647 0.8850562 0.7964168 NA NA -0.8850562 -0.7493246 0.8541441 0.8407365 NA -0.8171904 NA TRUE NA NA NA NA NA NA MDH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MDH1 NA NA NA ENSG00000014641 ENSE00003573337 NA NA NA NA NA NA NA 0.9826346 TRUE NA ENSE00002415815_000 ENSE00002415815 000 2 152361959 152362128 - 33 93 44 NA NA NA NA NA CACACAAATGGAAGCTGAGAGTATGGCCACTACCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGATTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 NA NA NA NA NA NA CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG natural 77 116 0.991721 0.989145 0.990433 955 4593 0.9889384 0.9351085 0.9620234 0.991721 0.989145 0.9889384 0.9351085 0 0 0 0 0.990433 0.9620234 0 0 0 FALSE FALSE NA NA NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00003560617 NA NA NA NA NA NA NA 4.081031e-17 FALSE NA ENSE00002415815_BRK ENSE00002415815 BRK 2 152361959 152362128 - 33 93 44 A,G; T,T NA NA NA CACACAAATGGAAGCTGAGAGTATGGCCACTGGCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACAAGCAGATTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 NA NA NA NA NA NA CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCTTGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGCCAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG control 359 924 0 0 0 NA NA NA NA NA 0.991721 0.989145 0.9889384 0.9351085 -0.991721 -0.989145 NA NA 0.990433 0.9620234 -0.990433 NA NA NA TRUE NA NA NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00003560617 NA NA NA NA NA NA NA 4.081031e-17 FALSE NA ENSE00002415921_000 ENSE00002415921 000 6 155565089 155565258 + 56 69 45 NA NA NA NA NA TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT 155243954 155244124 NA NA NA NA NA NA TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT natural NA NA NA NA NA 303 1503 0.9047768 0.9962261 0.9505014 NA NA 0.9047768 0.9962261 NA NA 0 0 NA 0.9505014 NA 0 NA FALSE NA NA NA NA NA NA TIAM2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TIAM2 NA NA NA ENSG00000146426 ENSE00003474386 NA NA NA NA NA NA NA 0.1248295 FALSE NA ENSE00002415921_007 ENSE00002415921 007 6 155565089 155565258 + 56 69 45 A T 155565121 2534 33 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGTCACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT 155243954 155244124 155243986 155243987 155243987 upstr_intron -24 -0.4107143 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGTCACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT mutant NA NA NA NA NA 98 55 0.9702225 0.9904665 0.9803445 NA NA 0.9047768 0.9962261 NA NA 0.06544575 -0.005759581 NA 0.9505014 NA 0.02984309 NA FALSE NA 0.004 0.681 . intron_variant MODIFIER TIAM2 HGNC 11806 ENST00000461783 18/28 1 NA GAC A,T 4.118e-05 6:155243987 TIAM2 HGNC Symbol protein_coding 425026 ENSG00000146426 ENSE00003474386 intron_variant 0.012942 0.18298 0.13763 0.106106 0.7051754 0.046323 0.1248295 FALSE 2.03164e-05 ENSE00002415921_012 ENSE00002415921 012 6 155565089 155565258 + 56 69 45 C T 155565159 2539 71 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTTTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT 155243954 155244124 155244024 155244025 155244025 exon 15 0.2173913 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTTTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT mutant NA NA NA NA NA 179 361 0.9964995 0.9987248 0.9976122 NA NA 0.9047768 0.9962261 NA NA 0.09172273 0.002498715 NA 0.9505014 NA 0.04711072 NA FALSE NA 1 0.604 . synonymous_variant LOW TIAM2 HGNC 11806 ENST00000461783 19/29 1 NA TCT C,T 8.237e-06 6:155244025 TIAM2 HGNC Symbol protein_coding 425026 ENSG00000146426 ENSE00003474386 synonymous_variant 1.468901 0.92154 0.72804 0.660377 0.7346604 0 0.1248295 FALSE NA ENSE00002415921_013 ENSE00002415921 013 6 155565089 155565258 + 56 69 45 T C 155565169 2540 81 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTACACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT 155243954 155244124 155244034 155244035 155244035 exon 25 0.3623188 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTACACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT mutant NA NA NA NA NA 73 13 0.9551437 0.95 0.9525719 NA NA 0.9047768 0.9962261 NA NA 0.05036694 -0.04622612 NA 0.9505014 NA 0.00207041 NA FALSE NA 1 7.872 . missense_variant MODERATE TIAM2 HGNC 11806 ENST00000461783 19/29 1 deleterious(0) probably_damaging(1) NA ATA T,C 8.237e-06 6:155244035 TIAM2 HGNC Symbol protein_coding 425026 ENSG00000146426 ENSE00003474386 missense_variant 6.03816 0.96843 0.95942 0.6512 0.9986771 0 0.1248295 FALSE 4.06098e-06 ENSE00002415921_017 ENSE00002415921 017 6 155565089 155565258 + 56 69 45 C T 155565225 2544 137 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATTACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT 155243954 155244124 155244090 155244091 155244091 downstr_intron 12 1.272727 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATTACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT mutant NA NA NA NA NA 284 75 1 1 1 NA NA 0.9047768 0.9962261 NA NA 0.09522323 0.003773881 NA 0.9505014 NA 0.04949856 NA FALSE NA 0 0.094 . intron_variant MODIFIER TIAM2 HGNC 11806 ENST00000461783 19/28 1 NA TCA C,T 8.237e-06 6:155244091 TIAM2 HGNC Symbol protein_coding 425026 ENSG00000146426 ENSE00003474386 intron_variant 0.21103 0.20067 0.06955 0.088506 0.4597703 0.046323 0.1248295 FALSE 4.06134e-06 ENSE00002415921_022 ENSE00002415921 022 6 155565089 155565258 + 56 69 45 C T 155565248 2549 160 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCTACAGGTTAGT 155243954 155244124 155244113 155244114 155244114 downstr_intron 35 1.795455 TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCTACAGGTTAGT TCATGGGTATTTTGGAGACTAAAGCGTTGAAGACACTTTCTTCTATTTTCTTTCAGGATTTGAGCTGCCTCTTTGAATTATACTTGGAGCCACTTCAGAATGAGACCTTTCTTACCCAAGATGAGGTAAATAAAATCACCTTCCTTCTGTCCAGTGATCCACAGGTTAGT mutant NA NA NA NA NA 20 61 1 1 1 NA NA 0.9047768 0.9962261 NA NA 0.09522323 0.003773881 NA 0.9505014 NA 0.04949856 NA FALSE NA 0 0.097 . intron_variant MODIFIER TIAM2 HGNC 11806 ENST00000461783 19/28 rs374528175 1 T:0.0040 T:0 T:0 NA T:0 T:0 T:0.0204 T:0.0002 T:0 CCA C,T 0.001516 6:155244114 TIAM2 HGNC Symbol protein_coding 425026 ENSG00000146426 ENSE00003474386 intron_variant 0.325103 0.3483 0.12546 0.088506 0.5396054 0.510835 0.1248295 FALSE 0.00136239 ENSE00002415960_000 ENSE00002415960 000 9 136245860 136246029 + 47 87 36 NA NA NA NA NA AAAAGTTGTGTGCATTTCCTGAAAGCTTCTCTCTTCCTTGCTGATAGGTTTTGTACCAGCTGAATCCTGGGGCCTTGGGGGTGAACCTGGTGGTGGAGGAAATGGAAACCAAAGTCAAGCATGTGATAAAGCAGGTAAGAGGCCAAGCCTGTGCATCCCATGCCGGGTGG 133378988 133379158 NA NA NA NA NA NA AAAAGTTGTGTGCATTTCCTGAAAGCTTCTCTCTTCCTTGCTGATAGGTTTTGTACCAGCTGAATCCTGGGGCCTTGGGGGTGAACCTGGTGGTGGAGGAAATGGAAACCAAAGTCAAGCATGTGATAAAGCAGGTAAGAGGCCAAGCCTGTGCATCCCATGCCGGGTGG AAAAGTTGTGTGCATTTCCTGAAAGCTTCTCTCTTCCTTGCTGATAGGTTTTGTACCAGCTGAATCCTGGGGCCTTGGGGGTGAACCTGGTGGTGGAGGAAATGGAAACCAAAGTCAAGCATGTGATAAAGCAGGTAAGAGGCCAAGCCTGTGCATCCCATGCCGGGTGG natural 15 61 1 0.9895995 0.9947997 276 367 0.9975896 0.8215117 0.9095506 1 0.9895995 0.9975896 0.8215117 0 0 0 0 0.9947997 0.9095506 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003482661 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00002416064_000 ENSE00002416064 000 2 37486696 37486865 - 30 99 41 NA NA NA NA NA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 NA NA NA NA NA NA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA natural 15 64 0.85 0.85 0.85 5766 3937 0.8418088 0.9009348 0.8713718 0.85 0.85 0.8418088 0.9009348 0 0 0 0 0.85 0.8713718 0 0 0 FALSE FALSE NA NA NA NA NA PRKD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKD3 NA NA NA ENSG00000115825 ENSE00003676063 NA NA NA NA NA NA NA 0.008075656 FALSE NA ENSE00002416064_001 ENSE00002416064 001 2 37486696 37486865 - 30 99 41 T C 37486709 1168 157 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGGACCTTTTAAATGA 37259552 37259722 37259565 37259566 37259566 downstr_intron 17 1.586207 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGGACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 761 135 0.90651 0.8509301 0.87872 0.85 0.85 0.8418088 0.9009348 NA NA 0.06470121 -0.05000479 0.85 0.8713718 NA 0.00734821 NA FALSE NA 0.024 1.066 . intron_variant MODIFIER PRKD3 HGNC 9408 ENST00000452104 4/4 1 NA TTC T,C 8.237e-06 2:37259566 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 intron_variant 1.004255 0.23932 0.04688 0.163922 0.7427619 0.250534 0.008075656 FALSE NA ENSE00002416064_002 ENSE00002416064 002 2 37486696 37486865 - 30 99 41 T C 37486727 1169 139 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCGGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 37259583 37259584 37259584 exon -2 0.989899 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCGGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 91 465 0.01286093 0.002969719 0.007915326 0.85 0.85 0.8418088 0.9009348 NA NA -0.8289478 -0.8979651 0.85 0.8713718 NA -0.8634565 NA TRUE NA 1 8.042 . missense_variant&splice_region_variant MODERATE PRKD3 HGNC 9408 ENST00000452104 4/5 1 tolerated(0.09) benign(0.004) NA CTG T,C 3.295e-05 2:37259584 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 missense_variant 5.727214 0.99269 0.98689 0.706548 0.9962821 0 0.008075656 FALSE NA ENSE00002416064_005 ENSE00002416064 005 2 37486696 37486865 - 30 99 41 G A 37486737 1172 129 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGTCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 37259593 37259594 37259594 exon -12 0.8888889 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGTCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 542 40 0.953051 0.9970937 0.9750723 0.85 0.85 0.8418088 0.9009348 NA NA 0.1112422 0.09615884 0.85 0.8713718 NA 0.1037005 NA FALSE NA 1 9.873 . missense_variant MODERATE PRKD3 HGNC 9408 ENST00000452104 4/5 rs369992288 1 tolerated(0.3) benign(0.002) NA A:0.0002 A:0 GGC G,A 8.237e-06 2:37259594 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 missense_variant 3.558644 0.99478 0.99338 0.732398 0.9577816 0 0.008075656 FALSE 2.04052e-05 ENSE00002416064_008 ENSE00002416064 008 2 37486696 37486865 - 30 99 41 G A 37486755 1175 111 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGTTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 37259611 37259612 37259612 exon -30 0.7070707 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGTTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 37 21 0.8678366 0.881222 0.8745293 0.85 0.85 0.8418088 0.9009348 NA NA 0.02602783 -0.0197128 0.85 0.8713718 NA 0.003157512 NA FALSE NA 1 6.789 . synonymous_variant LOW PRKD3 HGNC 9408 ENST00000452104 4/5 1 NA AGC G,A 4.118e-05 2:37259612 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 synonymous_variant 1.178625 0.98786 0.98201 0.732398 0.7041257 0 0.008075656 FALSE 5.70172e-05 ENSE00002416064_009 ENSE00002416064 009 2 37486696 37486865 - 30 99 41 A G 37486759 1176 107 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAACGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 37259615 37259616 37259616 exon -34 0.6666667 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAACGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 531 11 0.9993783 1 0.9996892 0.85 0.85 0.8418088 0.9009348 NA NA 0.1575696 0.09906516 0.85 0.8713718 NA 0.1283174 NA FALSE NA 0.979 0.277 . synonymous_variant LOW PRKD3 HGNC 9408 ENST00000452104 4/5 1 NA CAT A,G 8.237e-06 2:37259616 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 synonymous_variant -0.020606 0.96828 0.76408 0.732398 0.5191459 0 0.008075656 FALSE 4.07226e-06 ENSE00002416064_013 ENSE00002416064 013 2 37486696 37486865 - 30 99 41 A G 37486787 1180 79 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATACTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 37259643 37259644 37259644 exon 38 0.3838384 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATACTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 893 33 0.9979393 0.9951769 0.9965581 0.85 0.85 0.8418088 0.9009348 NA NA 0.1561306 0.0942421 0.85 0.8713718 NA 0.1251863 NA FALSE NA 1 9.343 . missense_variant MODERATE PRKD3 HGNC 9408 ENST00000452104 4/5 1 deleterious(0) possibly_damaging(0.844) NA AAT A,G 8.237e-06 2:37259644 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 missense_variant 6.441862 0.99286 0.99214 0.732398 0.9984381 0 0.008075656 FALSE NA ENSE00002416064_014 ENSE00002416064 014 2 37486696 37486865 - 30 99 41 T G 37486799 1181 67 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCCTTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 37259655 37259656 37259656 exon 26 0.2626263 GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCCTTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 152 137 0.9622354 0.8686492 0.9154423 0.85 0.85 0.8418088 0.9009348 NA NA 0.1204266 -0.0322856 0.85 0.8713718 NA 0.04407052 NA FALSE NA 1 8.042 . missense_variant MODERATE PRKD3 HGNC 9408 ENST00000452104 4/5 1 deleterious(0) probably_damaging(0.997) NA ATG T,G 1.647e-05 2:37259656 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 missense_variant 6.331286 0.9929 0.98911 0.732398 0.9846434 0 0.008075656 FALSE 1.63128e-05 ENSE00002416064_018 ENSE00002416064 018 2 37486696 37486865 - 30 99 41 A G 37486836 1185 30 GATTTTCCAGACATTGAAAAGAAAATCTTCTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 37259692 37259693 37259693 upstr_intron -12 -0.2682927 GATTTTCCAGACATTGAAAAGAAAATCTTCTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 302 236 0.9404789 0.9537137 0.9470963 0.85 0.85 0.8418088 0.9009348 NA NA 0.09867014 0.05277886 0.85 0.8713718 NA 0.0757245 NA FALSE NA 0 1.256 . intron_variant MODIFIER PRKD3 HGNC 9408 ENST00000452104 3/4 1 NA AAA A,G 8.237e-06 2:37259693 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 intron_variant 1.748733 0.24898 0.08981 0.106106 0.8977388 0.328231 0.008075656 FALSE 4.18575e-06 ENSE00002416064_021 ENSE00002416064 021 2 37486696 37486865 - 30 99 41 A G 37486852 1188 14 GATTTTCCAGACACTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA 37259552 37259722 37259708 37259709 37259709 upstr_intron -28 -0.6585366 GATTTTCCAGACACTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA GATTTTCCAGACATTGAAAAGAAAATCTTTTTTCATAACAGATACTTGTTGCTTTGAGGAATCTGCATTTTAAGAATATTGTGCACTGTGATTTAAAGCCAGAAAATGTGCTGCTTGCATCAGCAGAGCCATTTCCTCAGGTGAGATATTCTCCAGAACCTTTTAAATGA mutant NA NA NA NA NA 145 334 0.9720197 0.9842215 0.9781206 0.85 0.85 0.8418088 0.9009348 NA NA 0.1302109 0.08328663 0.85 0.8713718 NA 0.1067488 NA FALSE NA 0.001 0.079 . intron_variant MODIFIER PRKD3 HGNC 9408 ENST00000452104 3/4 1 NA AAT A,G 8.238e-06 2:37259709 PRKD3 HGNC Symbol protein_coding 74306 ENSG00000115825 ENSE00003676063 intron_variant 0.264288 0.20016 0.06813 0.106106 0.8055206 0.123323 0.008075656 FALSE 8.40315e-06 ENSE00002416141_000 ENSE00002416141 000 17 48274488 48274657 - 53 54 63 NA NA NA NA NA TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT 50197126 50197296 NA NA NA NA NA NA TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT natural 332 262 0.85 0.8457638 0.8478819 1037 292 0.8492238 0.8942167 0.8717203 0.85 0.8457638 0.8492238 0.8942167 0 0 0 0 0.8478819 0.8717203 0 0 0 FALSE FALSE NA NA NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL1A1 NA NA NA ENSG00000108821 ENSE00003520533 NA NA NA NA NA NA NA 1 TRUE NA ENSE00002416141_002 ENSE00002416141 002 17 48274488 48274657 - 53 54 63 A G 48274505 2542 153 TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACCGCACTTGGGCTTCATTT 50197126 50197296 50197143 50197144 50197144 downstr_intron 36 1.692308 TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACCGCACTTGGGCTTCATTT TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT mutant 19 33 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8457638 0.8492238 0.8942167 0 0.004236249 NA NA 0.8478819 0.8717203 0.002118125 NA NA NA FALSE 0 0.286 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA CAG A,G 8.236e-06 17:50197144 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003520533 intron_variant 1.010057 0.17055 0.03553 0.095506 0.7792874 0.087423 1 TRUE 1.21819e-05 ENSE00002416141_008 ENSE00002416141 008 17 48274488 48274657 - 53 54 63 G A 48274554 2548 104 TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCTTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT 50197126 50197296 50197192 50197193 50197193 exon -14 0.7592593 TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCTTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT mutant 28 40 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8457638 0.8492238 0.8942167 0 0.004236249 NA NA 0.8478819 0.8717203 0.002118125 NA NA NA FALSE 0.95 2.772 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 COSM363776 1 NA AGG G,A 1.647e-05 17:50197193 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003520533 missense_variant 2.699081 0.92881 0.62902 0.67177 0.8946521 0 1 TRUE 8.12183e-06 ENSE00002416141_009 ENSE00002416141 009 17 48274488 48274657 - 53 54 63 G A 48274555 2549 103 TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGTCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT 50197126 50197296 50197193 50197194 50197194 exon -15 0.7407407 TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGTCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT mutant NA NA NA NA NA 228 27 0.8007065 0.8 0.8003533 0.85 0.8457638 0.8492238 0.8942167 NA NA -0.04851727 -0.09421673 0.8478819 0.8717203 NA -0.071367 NA FALSE NA 0.117 1.184 . upstream_gene_variant MODIFIER COL1A1 HGNC 2197 ENST00000471344 1 NA GGC G,A 8.236e-06 17:50197194 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003520533 missense_variant 2.433987 0.89381 0.7556 0.67177 0.9527051 0 1 TRUE 4.06085e-06 ENSE00002416141_021 ENSE00002416141 021 17 48274488 48274657 - 53 54 63 G A 48274641 2561 17 TTTTCCAGCCCCTAGGTGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT 50197126 50197296 50197279 50197280 50197280 upstr_intron -47 -0.7301587 TTTTCCAGCCCCTAGGTGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT TTTTCCAGCCCCTAGGCGGTGGTGGGGAGGCAGAGGCATGATGGTCTTTTCTCTCCCTCTCAGGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGTGAGCAGGGGGCTGTGGCTGAACCTGGGCTTCACTGCACTTGGGCTTCATTT mutant NA NA NA NA NA 77 212 0.8309425 0.908534 0.8697383 0.85 0.8457638 0.8492238 0.8942167 NA NA -0.01828127 0.01431728 0.8478819 0.8717203 NA -0.001981996 NA FALSE NA 0 -0.131 NA NA NA COL1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:50197280 COL1A1 HGNC Symbol protein_coding 18343 ENSG00000108821 ENSE00003520533 intron_variant -0.257319 0.12715 0.09556 0.095506 0.7514961 0.105341 1 TRUE 0.000106511 ENSE00002416704_000 ENSE00002416704 000 17 74046479 74046648 - 30 99 41 NA NA NA NA NA CAAGAACCAGGGCTCGGCTGAGGGTCCTACCTGATCTGGCTTGAGCTCCTCCCGAACCACCTGGATGGCGTCCCGACACTCGCTGAGCATTGATTCAAACAGGCGCTCCTTAGTTTCTTCGCTTTCAGCCTAAACAAGGGCAGATCAAAGTAAGAGACTTTCCTTTGAGC 76050397 76050567 NA NA NA NA NA NA GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG natural 42 17 0.9250328 0.9788999 0.9519664 2813 1380 0.9883872 0.9953943 0.9918908 0.9250328 0.9788999 0.9883872 0.9953943 0 0 0 0 0.9519664 0.9918908 0 0 0 FALSE FALSE NA NA NA NA NA SRP68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRP68 NA NA NA ENSG00000167881 ENSE00003619803 NA NA NA NA NA NA NA 0.365045 FALSE NA ENSE00002416704_001 ENSE00002416704 001 17 74046479 74046648 - 30 99 41 C T 74046493 3085 156 CAAGAACCAGGGCTTGGCTGAGGGTCCTACCTGATCTGGCTTGAGCTCCTCCCGAACCACCTGGATGGCGTCCCGACACTCGCTGAGCATTGATTCAAACAGGCGCTCCTTAGTTTCTTCGCTTTCAGCCTAAACAAGGGCAGATCAAAGTAAGAGACTTTCCTTTGAGC 76050397 76050567 76050411 76050412 76050412 downstr_intron 16 1.551724 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCAAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 939 774 0.9978716 0.9997956 0.9988336 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.009484396 0.004401297 0.9519664 0.9918908 NA 0.006942846 NA FALSE NA 0 -1.135 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA TCG C,T 1.647e-05 17:76050412 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 intron_variant -0.046654 0.24005 0.02813 0.295142 0.3510918 0.0715842 0.365045 FALSE 2.03363e-05 ENSE00002416704_002 ENSE00002416704 002 17 74046479 74046648 - 30 99 41 C A 74046524 3086 125 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGATCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050442 76050443 76050443 exon -16 0.8484848 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGATCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 338 536 0.9984063 0.9927585 0.9955824 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.01001912 -0.002635769 0.9519664 0.9918908 NA 0.003691677 NA FALSE NA 0.997 0.541 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:76050443 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 missense_variant 2.740623 0.98206 0.92976 0.706548 0.988099 0 0.365045 FALSE 4.06174e-06 ENSE00002416704_003 ENSE00002416704 003 17 74046479 74046648 - 30 99 41 C T 74046524 3087 125 CAAGAACCAGGGCTCGGCTGAGGGTCCTACCTGATCTGGCTTGAGTTCCTCCCGAACCACCTGGATGGCGTCCCGACACTCGCTGAGCATTGATTCAAACAGGCGCTCCTTAGTTTCTTCGCTTTCAGCCTAAACAAGGGCAGATCAAAGTAAGAGACTTTCCTTTGAGC 76050397 76050567 76050442 76050443 76050443 exon -16 0.8484848 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAACTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 1680 267 0.9984289 0.9899098 0.9941694 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.01004167 -0.005484494 0.9519664 0.9918908 NA 0.002278586 NA FALSE NA 0.997 0.541 NA NA NA SRP68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRP68 NA NA NA ENSG00000167881 ENSE00003619803 synonymous_variant 1.574511 0.98086 0.89473 0.706548 0.5657239 0 0.365045 FALSE 4.06174e-06 ENSE00002416704_004 ENSE00002416704 004 17 74046479 74046648 - 30 99 41 C T 74046529 3088 120 CAAGAACCAGGGCTCGGCTGAGGGTCCTACCTGATCTGGCTTGAGCTCCTTCCGAACCACCTGGATGGCGTCCCGACACTCGCTGAGCATTGATTCAAACAGGCGCTCCTTAGTTTCTTCGCTTTCAGCCTAAACAAGGGCAGATCAAAGTAAGAGACTTTCCTTTGAGC 76050397 76050567 76050447 76050448 76050448 exon -21 0.7979798 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGAAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 652 1378 0.9973185 0.9935274 0.9954229 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.008931245 -0.00186688 0.9519664 0.9918908 NA 0.003532182 NA FALSE NA 1 7.249 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA TCC C,T 8.236e-06 17:76050448 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 missense_variant 7.664658 0.99555 0.99107 0.706548 0.9993936 0 0.365045 FALSE 4.06134e-06 ENSE00002416704_006 ENSE00002416704 006 17 74046479 74046648 - 30 99 41 G A 74046532 3090 117 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTTGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050450 76050451 76050451 exon -24 0.7676768 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTTGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 459 986 0.9952202 0.9758333 0.9855267 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.006832952 -0.01956106 0.9519664 0.9918908 NA -0.006364054 NA FALSE NA 1 3.665 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA CGA G,A 8.236e-06 17:76050451 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 missense_variant 6.857434 0.91774 0.92723 0.706548 0.9990805 0 0.365045 FALSE 4.06147e-06 ENSE00002416704_007 ENSE00002416704 007 17 74046479 74046648 - 30 99 41 C T 74046547 3091 102 CAAGAACCAGGGCTCGGCTGAGGGTCCTACCTGATCTGGCTTGAGCTCCTCCCGAACCACCTGGATGGTGTCCCGACACTCGCTGAGCATTGATTCAAACAGGCGCTCCTTAGTTTCTTCGCTTTCAGCCTAAACAAGGGCAGATCAAAGTAAGAGACTTTCCTTTGAGC 76050397 76050567 76050465 76050466 76050466 exon -39 0.6161616 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACACCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 948 776 1 0.998864 0.999432 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.01161278 0.003469672 0.9519664 0.9918908 NA 0.007541228 NA FALSE NA 1 2.801 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA GCG C,T 1.647e-05 17:76050466 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 missense_variant 4.17259 0.98166 0.8872 0.706548 0.9976534 0 0.365045 FALSE 2.43663e-05 ENSE00002416704_008 ENSE00002416704 008 17 74046479 74046648 - 30 99 41 G A 74046548 3092 101 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGATGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050466 76050467 76050467 exon -40 0.6060606 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGATGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 968 410 0.9884004 0.9873164 0.9878584 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 1.322608e-05 -0.008077893 0.9519664 0.9918908 NA -0.004032333 NA FALSE NA 1 0.934 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 rs368535867 1 NA A:0.0002 A:0 CGT G,A 2.471e-05 17:76050467 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 synonymous_variant 1.435299 0.97425 0.8765 0.706548 0.6498078 0 0.365045 FALSE 1.21833e-05 ENSE00002416704_009 ENSE00002416704 009 17 74046479 74046648 - 30 99 41 G A 74046553 3093 96 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTTGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050471 76050472 76050472 exon -45 0.5555556 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTTGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 1735 346 0.9956598 0.9552608 0.9754603 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.007272545 -0.0401335 0.9519664 0.9918908 NA -0.01643048 NA FALSE NA 1 3.334 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA CGA G,A 8.236e-06 17:76050472 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 missense_variant 7.993217 0.98716 0.95045 0.706548 0.9992969 0 0.365045 FALSE NA ENSE00002416704_010 ENSE00002416704 010 17 74046479 74046648 - 30 99 41 G A 74046560 3094 89 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGTGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050478 76050479 76050479 exon 48 0.4848485 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGTGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 1897 1052 0.9181742 0.9823069 0.9502405 0.9250328 0.9788999 0.9883872 0.9953943 NA NA -0.07021301 -0.01308745 0.9519664 0.9918908 NA -0.04165023 NA FALSE NA 0.479 -0.292 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 COSM984584 1 NA CGC G,A 8.236e-06 17:76050479 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 synonymous_variant 1.72271 0.42768 0.23998 0.706548 0.7349448 0 0.365045 FALSE 1.2183e-05 ENSE00002416704_011 ENSE00002416704 011 17 74046479 74046648 - 30 99 41 T C 74046568 3095 81 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAGTGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050486 76050487 76050487 exon 40 0.4040404 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAGTGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 891 165 0.9046995 0.9990403 0.9518699 0.9250328 0.9788999 0.9883872 0.9953943 NA NA -0.08368767 0.003645971 0.9519664 0.9918908 NA -0.04002085 NA FALSE NA 0.99 0.71 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA ATT T,C 1.647e-05 17:76050487 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 start_lost 0.637959 0.92682 0.82587 0.706548 0.8843468 0 0.365045 FALSE 1.21822e-05 ENSE00002416704_012 ENSE00002416704 012 17 74046479 74046648 - 30 99 41 C T 74046582 3096 67 CAAGAACCAGGGCTCGGCTGAGGGTCCTACCTGATCTGGCTTGAGCTCCTCCCGAACCACCTGGATGGCGTCCCGACACTCGCTGAGCATTGATTCAAACAGGTGCTCCTTAGTTTCTTCGCTTTCAGCCTAAACAAGGGCAGATCAAAGTAAGAGACTTTCCTTTGAGC 76050397 76050567 76050500 76050501 76050501 exon 26 0.2626263 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCACCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 11 546 1 1 1 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.01161278 0.004605682 0.9519664 0.9918908 NA 0.008109233 NA FALSE NA 1 4.337 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 COSM1227565 1 NA GCG C,T 8.236e-06 17:76050501 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 missense_variant 4.398874 0.98656 0.93057 0.706548 0.9973006 0 0.365045 FALSE 8.12249e-06 ENSE00002416704_013 ENSE00002416704 013 17 74046479 74046648 - 30 99 41 G A 74046583 3097 66 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGTGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050501 76050502 76050502 exon 25 0.2525253 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGTGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 440 1612 0.9953642 0.9907452 0.9930547 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.006977016 -0.004649147 0.9519664 0.9918908 NA 0.001163934 NA FALSE NA 1 9.176 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 COSM1386127 1 NA CGC G,A 8.236e-06 17:76050502 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 missense_variant 8.086719 0.99552 0.99484 0.706548 0.9993519 0 0.365045 FALSE 8.12242e-06 ENSE00002416704_014 ENSE00002416704 014 17 74046479 74046648 - 30 99 41 T C 74046596 3098 53 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAGGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050514 76050515 76050515 exon 12 0.1212121 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAGGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 798 1111 0.9999484 0.8109264 0.9054374 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.0115612 -0.1844679 0.9519664 0.9918908 NA -0.08645334 NA FALSE NA 1 0.676 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA CTT T,C 1.647e-05 17:76050515 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 synonymous_variant 0.354584 0.97744 0.75285 0.706548 0.635568 0 0.365045 FALSE 8.12275e-06 ENSE00002416704_015 ENSE00002416704 015 17 74046479 74046648 - 30 99 41 T G 74046597 3099 52 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGCAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050515 76050516 76050516 exon 11 0.1111111 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGCAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 97 184 1 1 1 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.01161278 0.004605682 0.9519664 0.9918908 NA 0.008109233 NA FALSE NA 1 7.453 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA TTC T,G 8.236e-06 17:76050516 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 missense_variant 2.400131 0.99392 0.99183 0.706548 0.9718314 0 0.365045 FALSE 8.12275e-06 ENSE00002416704_016 ENSE00002416704 016 17 74046479 74046648 - 30 99 41 G A 74046599 3100 50 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGTGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050517 76050518 76050518 exon 9 0.09090909 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGTGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 605 626 0.9728301 0.9991443 0.9859872 0.9250328 0.9788999 0.9883872 0.9953943 NA NA -0.01555711 0.003750004 0.9519664 0.9918908 NA -0.005903553 NA FALSE NA 0.572 -0.18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:76050518 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 synonymous_variant 1.939835 0.95235 0.40878 0.706548 0.7980058 0 0.365045 FALSE 0.000666195 ENSE00002416704_017 ENSE00002416704 017 17 74046479 74046648 - 30 99 41 G C 74046599 3101 50 CAAGAACCAGGGCTCGGCTGAGGGTCCTACCTGATCTGGCTTGAGCTCCTCCCGAACCACCTGGATGGCGTCCCGACACTCGCTGAGCATTGATTCAAACAGGCGCTCCTTAGTTTCTTCCCTTTCAGCCTAAACAAGGGCAGATCAAAGTAAGAGACTTTCCTTTGAGC 76050397 76050567 76050517 76050518 76050518 exon 9 0.09090909 GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGGGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 3234 473 0.9875439 0.9996655 0.9936047 0.9250328 0.9788999 0.9883872 0.9953943 NA NA -0.0008433018 0.004271176 0.9519664 0.9918908 NA 0.001713937 NA FALSE NA 0.572 -0.18 NA NA NA SRP68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRP68 NA NA NA ENSG00000167881 ENSE00003619803 missense_variant 3.612313 0.95733 0.70499 0.706548 0.9873105 0 0.365045 FALSE 8.12433e-06 ENSE00002416704_018 ENSE00002416704 018 17 74046479 74046648 - 30 99 41 T A 74046629 3102 20 GCTCAAAGGAAAGTCTCTTTCTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050547 76050548 76050548 upstr_intron -22 -0.5121951 GCTCAAAGGAAAGTCTCTTTCTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 244 753 0.9910881 0.990746 0.9909171 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.002700912 -0.004648284 0.9519664 0.9918908 NA -0.0009736857 NA FALSE NA 0 -4.33 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 rs370917373 1 NA A:0.0002 A:0 GTA T,A 8.236e-06 17:76050548 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 intron_variant 0.315145 0.12724 0.03359 0.156188 0.6907825 0.111769 0.365045 FALSE 4.07176e-06 ENSE00002416704_019 ENSE00002416704 019 17 74046479 74046648 - 30 99 41 G C 74046632 3103 17 CAAGAACCAGGGCTCGGCTGAGGGTCCTACCTGATCTGGCTTGAGCTCCTCCCGAACCACCTGGATGGCGTCCCGACACTCGCTGAGCATTGATTCAAACAGGCGCTCCTTAGTTTCTTCGCTTTCAGCCTAAACAAGGGCAGATCAAAGTAACAGACTTTCCTTTGAGC 76050397 76050567 76050550 76050551 76050551 upstr_intron -25 -0.5853659 GCTCAAAGGAAAGTCTGTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 772 1334 0.9915643 0.9924263 0.9919953 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.003177047 -0.002967971 0.9519664 0.9918908 NA 0.0001045382 NA FALSE NA 0 -0.575 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 rs374548276 1 NA C:0 C:0.0003 AGA G,C 0.0001565 17:76050551 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 intron_variant -0.054602 0.22279 0.03308 0.156188 0.657717 0.111769 0.365045 FALSE 9.36925e-05 ENSE00002416704_020 ENSE00002416704 020 17 74046479 74046648 - 30 99 41 G A 74046634 3104 15 GCTCAAAGGAAAGTTTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 76050552 76050553 76050553 upstr_intron -27 -0.6341463 GCTCAAAGGAAAGTTTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG mutant NA NA NA NA NA 674 634 0.9893721 1 0.994686 0.9250328 0.9788999 0.9883872 0.9953943 NA NA 0.0009848433 0.004605682 0.9519664 0.9918908 NA 0.002795263 NA FALSE NA 0 -0.103 . upstream_gene_variant MODIFIER SRP68 HGNC 11302 ENST00000588736 1 NA AGA G,A 8.236e-06 17:76050553 SRP68 HGNC Symbol protein_coding 33878 ENSG00000167881 ENSE00003619803 intron_variant 0.065044 0.13412 0.02543 0.106106 0.7939845 0.0901667 0.365045 FALSE NA ENSE00002416704_BRK ENSE00002416704 BRK 17 74046479 74046648 - 30 99 41 A,G; T,T NA NA NA GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTTTGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGCCAGGACCCTCAGCCGAGCCCTGGTTCTTG 76050397 76050567 NA NA NA NA NA NA GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTTTGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGCCAGGACCCTCAGCCGAGCCCTGGTTCTTG GCTCAAAGGAAAGTCTCTTACTTTGATCTGCCCTTGTTTAGGCTGAAAGCGAAGAAACTAAGGAGCGCCTGTTTGAATCAATGCTCAGCGAGTGTCGGGACGCCATCCAGGTGGTTCGGGAGGAGCTCAAGCCAGATCAGGTAGGACCCTCAGCCGAGCCCTGGTTCTTG control NA NA NA NA NA 474 300 0.07362011 0 0.03681006 0.9250328 0.9788999 0.9883872 0.9953943 NA NA -0.9147671 -0.9953943 0.9519664 0.9918908 NA -0.9550807 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SRP68 NA NA NA ENSG00000167881 ENSE00003619803 NA NA NA NA NA NA NA 0.365045 FALSE NA ENSE00002416861_000 ENSE00002416861 000 2 152586070 152586239 - 59 42 69 NA NA NA NA NA CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 NA NA NA NA NA NA CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT natural 17 16 0.9864795 0.9169421 0.9517108 1567 1601 0.9381346 0.9671084 0.9526215 0.9864795 0.9169421 0.9381346 0.9671084 0 0 0 0 0.9517108 0.9526215 0 0 0 FALSE FALSE NA NA NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00002481553 NA NA NA NA NA NA NA 4.081031e-17 FALSE NA ENSE00002416861_004 ENSE00002416861 004 2 152586070 152586239 - 59 42 69 C G 152586111 2951 129 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACACCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729596 151729597 151729597 downstr_intron 18 1.310345 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACACCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 1213 231 0.9969408 1 0.9984704 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.05880611 0.03289155 0.9517108 0.9526215 NA 0.04584883 NA FALSE NA 0 -0.735 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 2/179 rs375533560 1 NA G:0 G:0.0001 GCT C,G 9.095e-05 2:151729597 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 intron_variant 0.027977 0.1372 0.00666 0.074388 0.4757564 0.201966 4.081031e-17 FALSE 0.000170957 ENSE00002416861_005 ENSE00002416861 005 2 152586070 152586239 - 59 42 69 G A 152586113 2952 127 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCATAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729598 151729599 151729599 downstr_intron 16 1.275862 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCATAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 11 184 1 0.95 0.975 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.06186535 -0.01710845 0.9517108 0.9526215 NA 0.02237845 NA FALSE NA 0 -0.529 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 2/179 rs369843963 1 NA A:0.0003 A:0 TGT G,A 8.269e-06 2:151729599 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 intron_variant 0.584247 0.20577 0.04957 0.074388 0.6300728 0.201966 4.081031e-17 FALSE 4.07037e-06 ENSE00002416861_007 ENSE00002416861 007 2 152586070 152586239 - 59 42 69 G C 152586120 2954 120 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCGAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729605 151729606 151729606 downstr_intron 9 1.155172 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCGAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 2230 657 0.9907668 0.991199 0.9909829 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.0526321 0.02409058 0.9517108 0.9526215 NA 0.03836134 NA FALSE NA 0.002 0.563 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 2/179 rs373141155 1 NA C:0 C:0.0001 TGG G,C 1.654e-05 2:151729606 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 intron_variant 0.876981 0.23274 0.14383 0.074388 0.5208424 0.218077 4.081031e-17 FALSE 8.13895e-06 ENSE00002416861_010 ENSE00002416861 010 2 152586070 152586239 - 59 42 69 C A 152586135 2957 105 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCTGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729620 151729621 151729621 exon -7 0.8571429 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCTGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 155 223 1 0.9937943 0.9968972 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.06186535 0.02668588 0.9517108 0.9526215 NA 0.04427562 NA FALSE NA 0.008 -2.638 . synonymous_variant LOW NEB HGNC 7720 ENST00000603639 2/180 1 NA CCG C,A 8.269e-06 2:151729621 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 synonymous_variant 2.752471 0.21419 0.03379 0.487112 0.6691105 0 4.081031e-17 FALSE NA ENSE00002416861_011 ENSE00002416861 011 2 152586070 152586239 - 59 42 69 G A 152586136 2958 104 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCTGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729621 151729622 151729622 exon -8 0.8333333 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCTGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 513 259 0.80133 0.8142545 0.8077923 0.9864795 0.9169421 0.9381346 0.9671084 NA NA -0.1368046 -0.1528539 0.9517108 0.9526215 NA -0.1448293 NA FALSE NA 0.999 4.867 rs185496567 missense_variant MODERATE NEB HGNC 7720 ENST00000603639 2/180 rs185496567 1 probably_damaging(0.969) A:0.0006 A:0.0015 A:0 NA A:0 A:0.001 A:0 A:0.0015 A:0 CGG G,A 8.269e-05 2:151729622 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 missense_variant 7.049956 0.93988 0.85085 0.487112 0.9985917 0 4.081031e-17 FALSE 6.50941e-05 ENSE00002416861_015 ENSE00002416861 015 2 152586070 152586239 - 59 42 69 T A 152586160 2962 80 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGTAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729645 151729646 151729646 exon 11 0.2619048 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGTAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 95 145 0.02315685 0 0.01157842 0.9864795 0.9169421 0.9381346 0.9671084 NA NA -0.9149778 -0.9671084 0.9517108 0.9526215 NA -0.9410431 NA TRUE NA 1 3.941 . missense_variant MODERATE NEB HGNC 7720 ENST00000603639 2/180 1 unknown(0) NA TTC T,A 1.654e-05 2:151729646 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 missense_variant 4.488003 0.9363 0.82965 0.487112 0.981327 0 4.081031e-17 FALSE 2.03373e-05 ENSE00002416861_016 ENSE00002416861 016 2 152586070 152586239 - 59 42 69 T C 152586178 2963 62 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTGTTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729663 151729664 151729664 upstr_intron -8 -0.1014493 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTGTTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 262 1195 0.9714283 0.9592193 0.9653238 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.03329363 -0.007889115 0.9517108 0.9526215 NA 0.01270226 NA FALSE NA 0.106 -1.65 . splice_region_variant&intron_variant LOW NEB HGNC 7720 ENST00000603639 1/179 1 NA ATA T,C 2.48e-05 2:151729664 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 splice_region_variant 0.356545 0.18164 0.0311 0.074388 0.5747973 0.294498 4.081031e-17 FALSE 1.22065e-05 ENSE00002416861_018 ENSE00002416861 018 2 152586070 152586239 - 59 42 69 C T 152586185 2965 55 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTATGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729670 151729671 151729671 upstr_intron -15 -0.2028986 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTATGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 514 472 0.9835389 0.7862429 0.8848909 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.04540428 -0.1808656 0.9517108 0.9526215 NA -0.06773064 NA FALSE NA 0.998 1.049 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 1/179 1 NA ACA C,T 3.307e-05 2:151729671 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 intron_variant 1.453419 0.91068 0.69056 0.074388 0.7876602 0.413824 4.081031e-17 FALSE 1.62786e-05 ENSE00002416861_021 ENSE00002416861 021 2 152586070 152586239 - 59 42 69 C G 152586197 2968 43 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTCCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729682 151729683 151729683 upstr_intron -27 -0.3768116 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTCCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 244 1146 0.9884948 0.9945389 0.9915168 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.0503601 0.02743045 0.9517108 0.9526215 NA 0.03889528 NA FALSE NA 0 0.192 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 1/179 rs371107941 1 NA G:0 G:0.0001 GCA C,G 8.266e-06 2:151729683 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 intron_variant 0.63105 0.21006 0.0933 0.074388 0.5760997 0.0898449 4.081031e-17 FALSE 4.0711e-06 ENSE00002416861_022 ENSE00002416861 022 2 152586070 152586239 - 59 42 69 G A 152586200 2969 40 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTTTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729685 151729686 151729686 upstr_intron -30 -0.4202899 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTTTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 158 308 1 0.9965813 0.9982907 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.06186535 0.02947288 0.9517108 0.9526215 NA 0.04566911 NA FALSE NA 0.653 0.637 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 1/179 1 NA AGA G,A 8.266e-06 2:151729686 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 intron_variant 0.758341 0.19287 0.15751 0.074388 0.7144053 0.0537313 4.081031e-17 FALSE 4.07116e-06 ENSE00002416861_023 ENSE00002416861 023 2 152586070 152586239 - 59 42 69 A G 152586203 2970 37 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTCCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729688 151729689 151729689 upstr_intron -33 -0.4637681 CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTCCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 139 100 0.9623084 0.9201553 0.9412318 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.02417374 -0.04695315 0.9517108 0.9526215 NA -0.0113897 NA FALSE NA 0.989 3.948 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 1/179 rs375622138 1 NA G:0.0003 G:0 GAA A,G 8.266e-06 2:151729689 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 intron_variant 0.693353 0.28207 0.79577 0.074388 0.6292806 0.0530048 4.081031e-17 FALSE 4.07103e-06 ENSE00002416861_024 ENSE00002416861 024 2 152586070 152586239 - 59 42 69 A G 152586219 2971 21 CAGCTGAGGCAGAGGAGAGGCGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 151729704 151729705 151729705 upstr_intron -49 -0.6956522 CAGCTGAGGCAGAGGAGAGGCGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT mutant NA NA NA NA NA 232 37 0.9885757 1 0.9942878 0.9864795 0.9169421 0.9381346 0.9671084 NA NA 0.05044101 0.03289155 0.9517108 0.9526215 NA 0.04166628 NA FALSE NA 0 0.385 . intron_variant MODIFIER NEB HGNC 7720 ENST00000603639 1/179 1 NA CAC A,G 8.266e-06 2:151729705 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00002481553 intron_variant 0.350648 0.21915 0.11715 0.087844 0.5546458 0.0538108 4.081031e-17 FALSE 8.15814e-06 ENSE00002416861_BRK ENSE00002416861 BRK 2 152586070 152586239 - 59 42 69 A,G; T,T NA NA NA CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACTTTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGCCAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT 151729555 151729725 NA NA NA NA NA NA CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACTTTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGCCAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT CAGCTGAGGCAGAGGAGAGGTGGTTTCTGCTTTGGTTCTCTTGCCAATGCCTTTGTGCTCTATTTACAGTACTACACAGAAGAAGTGGTTTACGAAGAGGTGCCGGGAGAGGTAAGGCCCAGCCCACAGCTGCATAAACTGCATTCTCATTAAAGCAGGAAGAGCTTTCT control 16 27 0 0 0 1935 334 0.001964512 0 0.000982256 0.9864795 0.9169421 0.9381346 0.9671084 -0.9864795 -0.9169421 -0.9361701 -0.9671084 0.9517108 0.9526215 -0.9517108 -0.9516393 7.150933e-05 TRUE TRUE NA NA NA NA NA NEB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NEB NA NA NA ENSG00000183091 ENSE00002481553 NA NA NA NA NA NA NA 4.081031e-17 FALSE NA ENSE00002417027_000 ENSE00002417027 000 10 99426758 99426927 + 60 60 50 NA NA NA NA NA AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 NA NA NA NA NA NA AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT natural 198 128 0.9728916 0.9842072 0.9785494 4953 2513 0.9845395 0.9954483 0.9899939 0.9728916 0.9842072 0.9845395 0.9954483 0 0 0 0 0.9785494 0.9899939 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ZNF276 NA NA NA NA ENSE00003641306 NA NA NA NA NA NA NA 0.0002572748 FALSE NA ENSE00002417027_012 ENSE00002417027 012 10 99426758 99426927 + 60 60 50 C A 99426869 2281 112 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGAGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667111 97667112 97667112 exon -9 0.8666667 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGAGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 59 166 0.9890445 0.9534774 0.9712609 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.004504963 -0.04197095 0.9785494 0.9899939 NA -0.01873299 NA FALSE NA 1 2.866 NA NA NA PI4K2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AL355315.1 NA NA NA ENSG00000249967 ENSE00003641306 synonymous_variant 2.778602 0.90798 0.60989 0.706548 0.6701021 0 NA NA 4.06296e-06 ENSE00002417027_BRK ENSE00002417027 BRK 10 99426758 99426927 + 60 60 50 A,G; T,T NA NA NA AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCTTAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGCCAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 NA NA NA NA NA NA AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCTTAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGCCAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT control 189 187 0 0 0 1177 305 0.004369514 0 0.002184757 0.9728916 0.9842072 0.9845395 0.9954483 -0.9728916 -0.9842072 -0.98017 -0.9954483 0.9785494 0.9899939 -0.9785494 -0.9878092 0.00925976 TRUE TRUE NA NA NA NA NA PI4K2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AL355315.1 NA NA NA ENSG00000249967 ENSE00003641306 NA NA NA NA NA NA NA NA NA NA ENSE00002417273_000 ENSE00002417273 000 17 55196284 55196453 + 59 63 48 NA NA NA NA NA GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 NA NA NA NA NA NA GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG natural 70 73 0.999762 0.9982885 0.9990252 2099 3212 0.9643665 0.934663 0.9495147 0.999762 0.9982885 0.9643665 0.934663 0 0 0 0 0.9990252 0.9495147 0 0 0 FALSE FALSE NA NA NA NA NA AKAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AKAP1 NA NA NA ENSG00000121057 ENSE00003683986 NA NA NA NA NA NA NA 0.5617687 FALSE NA ENSE00002417273_001 ENSE00002417273 001 17 55196284 55196453 + 59 63 48 G T 55196297 2642 14 GATATTTGAGTGGTGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118935 57118936 57118936 upstr_intron -46 -0.7627119 GATATTTGAGTGGTGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 66 359 0.8979838 0.9995592 0.9487715 0.999762 0.9982885 0.9643665 0.934663 NA NA -0.06638264 0.06489624 0.9990252 0.9495147 NA -0.0007431974 NA FALSE NA 0.003 0.129 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 3/5 1 NA GGG G,T 8.236e-06 17:57118936 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant -0.107123 0.07732 0.01455 0.156188 0.5780671 0.0510595 0.5617687 FALSE 1.22043e-05 ENSE00002417273_002 ENSE00002417273 002 17 55196284 55196453 + 59 63 48 A G 55196301 2643 18 GATATTTGAGTGGGGACGCAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118939 57118940 57118940 upstr_intron -42 -0.6949153 GATATTTGAGTGGGGACGCAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 24 17 1 0.9537942 0.9768971 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.0191312 0.9990252 0.9495147 NA 0.02738237 NA FALSE NA 0.002 -0.256 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 3/5 rs542361212 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAC A,G 4.942e-05 17:57118940 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant 0.094115 0.05736 0.00456 0.156188 0.6458788 0.0510595 0.5617687 FALSE 2.8453e-05 ENSE00002417273_003 ENSE00002417273 003 17 55196284 55196453 + 59 63 48 C T 55196313 2644 30 GATATTTGAGTGGGGACACAAAACCTAACTATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118951 57118952 57118952 upstr_intron -30 -0.4915254 GATATTTGAGTGGGGACACAAAACCTAACTATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 189 203 0.9876083 1 0.9938042 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.02324189 0.06533703 0.9990252 0.9495147 NA 0.04428946 NA FALSE NA 0.009 0.433 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 3/5 1 NA CCA C,T 2.471e-05 17:57118952 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant -0.030647 0.05842 0.00237 0.156188 0.3160473 0.0510595 0.5617687 FALSE 2.84444e-05 ENSE00002417273_004 ENSE00002417273 004 17 55196284 55196453 + 59 63 48 T C 55196317 2645 34 GATATTTGAGTGGGGACACAAAACCTAACCATACTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118955 57118956 57118956 upstr_intron -26 -0.4237288 GATATTTGAGTGGGGACACAAAACCTAACCATACTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 120 234 1 1 1 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.06533703 0.9990252 0.9495147 NA 0.05048529 NA FALSE NA 0 -0.777 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 3/5 1 NA ATT T,C 8.236e-06 17:57118956 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant -0.279303 0.07727 0.00324 0.156188 0.6379259 0.0510595 0.5617687 FALSE 4.06134e-06 ENSE00002417273_005 ENSE00002417273 005 17 55196284 55196453 + 59 63 48 T G 55196320 2646 37 GATATTTGAGTGGGGACACAAAACCTAACCATATTAGTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118958 57118959 57118959 upstr_intron -23 -0.3728814 GATATTTGAGTGGGGACACAAAACCTAACCATATTAGTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant 34 10 0.85 0.85 0.85 NA NA NA NA NA 0.999762 0.9982885 0.9643665 0.934663 -0.149762 -0.1482885 NA NA 0.9990252 0.9495147 -0.1490252 NA NA NA FALSE 0.007 0.564 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 3/5 1 NA ATT T,G 4.118e-05 17:57118959 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant 0.028612 0.17242 0.08302 0.156188 0.7349094 0.0510595 0.5617687 FALSE 4.87337e-05 ENSE00002417273_008 ENSE00002417273 008 17 55196284 55196453 + 59 63 48 C T 55196329 2649 46 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCATCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118967 57118968 57118968 upstr_intron -14 -0.220339 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCATCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 215 42 0.9922875 1 0.9961437 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.027921 0.06533703 0.9990252 0.9495147 NA 0.04662902 NA FALSE NA 0 -0.252 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 3/5 rs369080862 1 NA T:0 T:0.0001 ACC C,T 4.118e-05 17:57118968 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant -0.298895 0.07646 0.00119 0.295142 0.2147269 0.0540496 0.5617687 FALSE 4.87428e-05 ENSE00002417273_011 ENSE00002417273 011 17 55196284 55196453 + 59 63 48 C T 55196333 2652 50 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCTCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118971 57118972 57118972 upstr_intron -10 -0.1525424 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCTCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 1477 18 0.9804465 1 0.9902233 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.01608006 0.06533703 0.9990252 0.9495147 NA 0.04070855 NA FALSE NA 0 -0.328 NA NA NA AKAP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:57118972 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant -0.18031 0.05403 0.00061 0.295142 0.359299 0.0540496 0.5617687 FALSE 4.06098e-06 ENSE00002417273_013 ENSE00002417273 013 17 55196284 55196453 + 59 63 48 G A 55196345 2654 62 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTAACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118983 57118984 57118984 exon 3 0.04761905 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTAACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 473 24 0.9260648 1 0.9630324 0.999762 0.9982885 0.9643665 0.934663 NA NA -0.03830164 0.06533703 0.9990252 0.9495147 NA 0.0135177 NA FALSE NA 1 0.579 . splice_region_variant&synonymous_variant LOW AKAP1 HGNC 367 ENST00000572560 4/6 1 NA TGA G,A 1.647e-05 17:57118984 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 splice_region_variant 1.035109 0.96343 0.87751 0.706548 0.5850784 0 0.5617687 FALSE 8.12156e-06 ENSE00002417273_015 ENSE00002417273 015 17 55196284 55196453 + 59 63 48 A G 55196361 2656 78 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAGCTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57118999 57119000 57119000 exon 19 0.3015873 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAGCTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 32 719 0.9819867 0.9429912 0.9624889 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.01762025 0.008328224 0.9990252 0.9495147 NA 0.01297423 NA FALSE NA 0.928 3.185 . missense_variant MODERATE AKAP1 HGNC 367 ENST00000572560 4/6 1 tolerated(0.52) benign(0.059) NA AAC A,G 8.236e-06 17:57119000 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 missense_variant 3.96883 0.9459 0.94249 0.706548 0.9811262 0 0.5617687 FALSE 1.21821e-05 ENSE00002417273_016 ENSE00002417273 016 17 55196284 55196453 + 59 63 48 C G 55196362 2657 79 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAAGTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57119000 57119001 57119001 exon 20 0.3174603 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAAGTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 723 94 1 0.9995941 0.9997971 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.06493114 0.9990252 0.9495147 NA 0.05028234 NA FALSE NA 0.933 3.345 . missense_variant MODERATE AKAP1 HGNC 367 ENST00000572560 4/6 1 tolerated(0.58) benign(0.036) NA ACT C,G 8.236e-06 17:57119001 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 missense_variant 3.359124 0.97687 0.97756 0.706548 0.966375 0 0.5617687 FALSE 4.06062e-06 ENSE00002417273_017 ENSE00002417273 017 17 55196284 55196453 + 59 63 48 G C 55196365 2658 82 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGCTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57119003 57119004 57119004 exon 23 0.3650794 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGCTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 182 2315 0.9932524 0.997354 0.9953032 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.02888593 0.06269107 0.9990252 0.9495147 NA 0.0457885 NA FALSE NA 1 8.942 rs138481607 missense_variant MODERATE AKAP1 HGNC 367 ENST00000572560 4/6 rs138481607 1 deleterious(0) probably_damaging(0.961) NA C:0 C:0.0001 GGT G,C 8.236e-06 17:57119004 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 missense_variant 6.511489 0.99444 0.9971 0.706548 0.9982111 0 0.5617687 FALSE 4.06062e-06 ENSE00002417273_019 ENSE00002417273 019 17 55196284 55196453 + 59 63 48 T C 55196411 2660 128 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGCTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57119049 57119050 57119050 downstr_intron 6 1.12766 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGCTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 222 167 1 1 1 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.06533703 0.9990252 0.9495147 NA 0.05048529 NA FALSE NA 0.999 2.19 . splice_region_variant&intron_variant LOW AKAP1 HGNC 367 ENST00000572560 4/5 1 NA GTT T,C 8.236e-06 17:57119050 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 splice_region_variant 1.37844 0.84799 0.55743 0.099367 0.8696837 0.2344 0.5617687 FALSE 4.06081e-06 ENSE00002417273_020 ENSE00002417273 020 17 55196284 55196453 + 59 63 48 C T 55196416 2661 133 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGTCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57119054 57119055 57119055 downstr_intron 11 1.234043 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGTCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 230 214 1 0.9990812 0.9995406 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.06441825 0.9990252 0.9495147 NA 0.0500259 NA FALSE NA 0 -0.624 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 4/5 1 NA GCC C,T 8.236e-06 17:57119055 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant 1.298517 0.25298 0.01965 0.099367 0.6734523 0.156577 0.5617687 FALSE 4.06111e-06 ENSE00002417273_021 ENSE00002417273 021 17 55196284 55196453 + 59 63 48 T C 55196419 2662 136 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCCTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57119057 57119058 57119058 downstr_intron 14 1.297872 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCCTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 782 815 1 1 1 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.06533703 0.9990252 0.9495147 NA 0.05048529 NA FALSE NA 0 -0.348 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 4/5 1 NA CTT T,C 8.236e-06 17:57119058 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant 0.22726 0.17487 0.05656 0.099367 0.6498232 0.0526402 0.5617687 FALSE NA ENSE00002417273_022 ENSE00002417273 022 17 55196284 55196453 + 59 63 48 C T 55196421 2663 138 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTTTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57119059 57119060 57119060 downstr_intron 16 1.340426 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTTTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 128 122 1 1 1 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.06533703 0.9990252 0.9495147 NA 0.05048529 NA FALSE NA 0 0.515 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 4/5 1 NA TCT C,T 8.236e-06 17:57119060 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant 0.081004 0.23353 0.00543 0.099367 0.6201803 0.0526402 0.5617687 FALSE 4.06111e-06 ENSE00002417273_024 ENSE00002417273 024 17 55196284 55196453 + 59 63 48 C T 55196427 2665 144 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCTTTCTGTGTTGCTGGCCCGAAGTAATG 57118922 57119092 57119065 57119066 57119066 downstr_intron 22 1.468085 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCTTTCTGTGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 66 455 1 0.9956604 0.9978302 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.06099745 0.9990252 0.9495147 NA 0.0483155 NA FALSE NA 0 0.286 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 4/5 1 NA CCT C,T 8.236e-06 17:57119066 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant 0.1741 0.16591 0.01425 0.099367 0.6707436 0.0526402 0.5617687 FALSE 4.06118e-06 ENSE00002417273_026 ENSE00002417273 026 17 55196284 55196453 + 59 63 48 G A 55196432 2667 149 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTATGTTGCTGGCCCGAAGTAATG 57118922 57119092 57119070 57119071 57119071 downstr_intron 27 1.574468 GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTATGTTGCTGGCCCGAAGTAATG GATATTTGAGTGGGGACACAAAACCTAACCATATTATTCTTTCCACCCCCCTTCTTCAGGTGACAAGTTACAGTCCAACTGGTCTTCCTCTGATTCAGCTGTGGAGTGTGGTTGGAGATGAAGTAAGTTCTGCCCTTCTTTTCCTTCTGTGTTGCTGGCCCGAAGTAATG mutant NA NA NA NA NA 94 48 1 1 1 0.999762 0.9982885 0.9643665 0.934663 NA NA 0.03563355 0.06533703 0.9990252 0.9495147 NA 0.05048529 NA FALSE NA 0 -0.689 . intron_variant MODIFIER AKAP1 HGNC 367 ENST00000572560 4/5 1 NA TGT G,A 1.647e-05 17:57119071 AKAP1 HGNC Symbol protein_coding 36257 ENSG00000121057 ENSE00003683986 intron_variant 0.125467 0.10419 0.00727 0.099367 0.6142703 0.0526402 0.5617687 FALSE 1.62448e-05 ENSE00002417733_000 ENSE00002417733 000 2 73250251 73250420 - 66 27 77 NA NA NA NA NA CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC 73023121 73023291 NA NA NA NA NA NA CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC natural 41 52 0.9967194 0.9979601 0.9973398 4788 1605 0.7549647 0.8301457 0.7925552 0.9967194 0.9979601 0.7549647 0.8301457 0 0 0 0 0.9973398 0.7925552 0 0 0 FALSE FALSE NA NA NA NA NA SFXN5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SFXN5 NA NA NA ENSG00000144040 ENSE00003605043 NA NA NA NA NA NA NA 0.01403045 FALSE NA ENSE00002417733_001 ENSE00002417733 001 2 73250251 73250420 - 66 27 77 G A 73250275 1681 146 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTTCTGGACTCCACCCTGCCCTGTCCC 73023121 73023291 73023145 73023146 73023146 downstr_intron 42 1.646154 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTTCTGGACTCCACCCTGCCCTGTCCC CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC mutant NA NA NA NA NA 520 403 0.9982458 1 0.9991229 0.9967194 0.9979601 0.7549647 0.8301457 NA NA 0.243281 0.1698543 0.9973398 0.7925552 NA 0.2065677 NA FALSE NA 0.022 2.462 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 4/6 1 NA GGA G,A 1.649e-05 2:73023146 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003605043 intron_variant 0.493047 0.2436 0.1628 0.088506 0.7108694 0.0851235 0.01403045 FALSE NA ENSE00002417733_003 ENSE00002417733 003 2 73250251 73250420 - 66 27 77 T C 73250294 1683 127 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTGTTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC 73023121 73023291 73023164 73023165 73023165 downstr_intron 23 1.353846 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTGTTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC mutant NA NA NA NA NA 408 109 0.9981701 1 0.9990851 0.9967194 0.9979601 0.7549647 0.8301457 NA NA 0.2432054 0.1698543 0.9973398 0.7925552 NA 0.2065299 NA FALSE NA 0 -0.144 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 4/6 rs375091880 1 NA C:0.0002 C:0 ATA T,C 1.648e-05 2:73023165 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003605043 intron_variant -0.121525 0.14064 0.02269 0.088506 0.4248122 0.0851235 0.01403045 FALSE 1.77813e-05 ENSE00002417733_004 ENSE00002417733 004 2 73250251 73250420 - 66 27 77 C A 73250303 1684 118 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTTGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC 73023121 73023291 73023173 73023174 73023174 downstr_intron 14 1.215385 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTTGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC mutant NA NA NA NA NA 421 665 0.9986234 1 0.9993117 0.9967194 0.9979601 0.7549647 0.8301457 NA NA 0.2436587 0.1698543 0.9973398 0.7925552 NA 0.2067565 NA FALSE NA 0 0.327 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 4/6 1 NA CCA C,A 8.24e-05 2:73023174 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003605043 intron_variant 0.296293 0.22219 0.0877 0.088506 0.6011826 0.215001 0.01403045 FALSE 0.000119067 ENSE00002417733_005 ENSE00002417733 005 2 73250251 73250420 - 66 27 77 G T 73250311 1685 110 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATACAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC 73023121 73023291 73023181 73023182 73023182 downstr_intron 6 1.092308 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATACAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC mutant NA NA NA NA NA 54 42 0.9688955 1 0.9844478 0.9967194 0.9979601 0.7549647 0.8301457 NA NA 0.2139308 0.1698543 0.9973398 0.7925552 NA 0.1918926 NA FALSE NA 0.101 -0.067 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SFXN5 HGNC 16073 ENST00000497144 4/6 rs533112444 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 GGA G,T 4.944e-05 2:73023182 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003605043 splice_region_variant 0.672181 0.14681 0.07509 0.088506 0.643076 0.263776 0.01403045 FALSE 5.25666e-05 ENSE00002417733_006 ENSE00002417733 006 2 73250251 73250420 - 66 27 77 T C 73250313 1686 108 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAGTCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC 73023121 73023291 73023183 73023184 73023184 downstr_intron 4 1.061538 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAGTCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC mutant NA NA NA NA NA 341 24 1 1 1 0.9967194 0.9979601 0.7549647 0.8301457 NA NA 0.2450353 0.1698543 0.9973398 0.7925552 NA 0.2074448 NA FALSE NA 1 4.684 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SFXN5 HGNC 16073 ENST00000497144 4/6 1 NA ATT T,C 1.648e-05 2:73023184 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003605043 splice_region_variant 1.746023 0.97499 0.9447 0.088506 0.9616708 0.9715 0.01403045 FALSE 1.31213e-05 ENSE00002417733_008 ENSE00002417733 008 2 73250251 73250420 - 66 27 77 G A 73250360 1688 61 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCTTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC 73023121 73023291 73023230 73023231 73023231 upstr_intron -17 -0.2077922 CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCTTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC CATGGGTTGGAAGCCTTAAACCGATATATGCTTTTAATTTTTGTTCTTTATTTTCTTTTCCTTTATCTCTCTTCCAGCTCTGGAGTGCACAGAAAATCAAGCAGGTAATCCAGTTTTGGATTCTCTATTTCCTTCTCCGTGTTGTCCTGGACTCCACCCTGCCCTGTCCC mutant NA NA NA NA NA 36 205 1 1 1 0.9967194 0.9979601 0.7549647 0.8301457 NA NA 0.2450353 0.1698543 0.9973398 0.7925552 NA 0.2074448 NA FALSE NA 0 -0.067 . intron_variant&non_coding_transcript_variant MODIFIER SFXN5 HGNC 16073 ENST00000497144 3/6 1 NA AGG G,A 0.0002312 2:73023231 SFXN5 HGNC Symbol protein_coding 133583 ENSG00000144040 ENSE00003605043 intron_variant 0.100937 0.17835 0.06388 0.088506 0.412078 0.111727 0.01403045 FALSE 0.000215374 ENSE00002417995_000 ENSE00002417995 000 3 128974864 128975033 + 47 87 36 NA NA NA NA NA AGTGTTTTAAATATCACTCCCTTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 NA NA NA NA NA NA ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT natural 70 79 0.85 0.8082893 0.8291447 3795 5069 0.9022953 0.7055475 0.8039214 0.85 0.8082893 0.9022953 0.7055475 0 0 0 0 0.8291447 0.8039214 0 0 0 FALSE FALSE NA NA NA NA NA COPG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COPG1 NA NA NA ENSG00000181789 ENSE00003489437 NA NA NA NA NA NA NA 0.9984993 TRUE NA ENSE00002417995_001 ENSE00002417995 001 3 128974864 128975033 + 47 87 36 C T 128974886 2714 23 AGTGTTTTAAATATCACTCCCTTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACAGGACACATTAAGAGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256042 129256043 129256043 upstr_intron -25 -0.5106383 ATGGGGACACTTCCTACCTGCCTCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 246 8241 0.9741637 0.9501116 0.9621377 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.07186845 0.2445641 0.8291447 0.8039214 NA 0.1582163 NA FALSE NA 0 0.019 . intron_variant MODIFIER COPG1 HGNC 2236 ENST00000314797 7/23 1 NA CCC C,T 8.236e-06 3:129256043 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 intron_variant 0.364657 0.22711 0.088 0.283894 0.6624672 0.0497569 0.9984993 TRUE 4.08047e-06 ENSE00002417995_002 ENSE00002417995 002 3 128974864 128975033 + 47 87 36 C A 128974898 2715 35 AGTGTTTTAAATATCACTCCCTTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACATGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256054 129256055 129256055 upstr_intron -13 -0.2553191 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCATGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 1065 251 0.9852275 0.9618067 0.9735171 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.08293221 0.2562592 0.8291447 0.8039214 NA 0.1695957 NA FALSE NA 0 -0.067 . intron_variant MODIFIER COPG1 HGNC 2236 ENST00000314797 7/23 1 NA CCT C,A 8.236e-06 3:129256055 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 intron_variant 1.503789 0.27198 0.31687 0.283894 0.8008252 0.137393 0.9984993 TRUE 4.07229e-06 ENSE00002417995_003 ENSE00002417995 003 3 128974864 128975033 + 47 87 36 G T 128974900 2716 37 AGTGTTTTAAATATCACTCCCTTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAAAAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256056 129256057 129256057 upstr_intron -11 -0.212766 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTTTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 110 62 0.9186738 1 0.9593369 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.01637846 0.2944525 0.8291447 0.8039214 NA 0.1554155 NA FALSE NA 0 -0.095 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:129256057 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 intron_variant 1.497265 0.21379 0.08976 0.283894 0.8020764 0.137393 0.9984993 TRUE 4.07097e-06 ENSE00002417995_004 ENSE00002417995 004 3 128974864 128975033 + 47 87 36 G A 128974900 2717 37 AGTGTTTTAAATATCACTCCCTTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAATAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256056 129256057 129256057 upstr_intron -11 -0.212766 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTATTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 401 201 0.9620382 0.959076 0.9605571 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.05974294 0.2535286 0.8291447 0.8039214 NA 0.1566358 NA FALSE NA 0 -0.095 NA NA NA COPG1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COPG1 NA NA NA ENSG00000181789 ENSE00003489437 intron_variant 1.684969 0.23062 0.2257 0.283894 0.776838 0.137393 0.9984993 TRUE 4.07097e-06 ENSE00002417995_007 ENSE00002417995 007 3 128974864 128975033 + 47 87 36 G A 128974935 2720 72 AGTGTTTTAAATATCACTCCCTTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCATGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256091 129256092 129256092 exon 25 0.2873563 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACATGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 32 61 0.8228862 0.7702632 0.7965747 0.85 0.8082893 0.9022953 0.7055475 NA NA -0.07940914 0.06471574 0.8291447 0.8039214 NA -0.007346699 NA FALSE NA 1 6.143 . missense_variant MODERATE COPG1 HGNC 2236 ENST00000314797 8/24 rs369168388 1 deleterious(0) possibly_damaging(0.487) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGT G,A 3.295e-05 3:129256092 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 missense_variant 5.776369 0.93641 0.96662 0.67177 0.9983466 0 0.9984993 TRUE 2.43766e-05 ENSE00002417995_008 ENSE00002417995 008 3 128974864 128975033 + 47 87 36 G A 128974950 2721 87 AGTGTTTTAAATATCACTCCCTTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCATCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256106 129256107 129256107 exon 40 0.4597701 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGATGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 515 691 0.9303548 0.9957682 0.9630615 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.02805948 0.2902207 0.8291447 0.8039214 NA 0.1591401 NA FALSE NA 1 7.32 . missense_variant MODERATE COPG1 HGNC 2236 ENST00000314797 8/24 rs539344147 1 deleterious(0.03) possibly_damaging(0.863) A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 GGT G,A 2.471e-05 3:129256107 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 missense_variant 6.236156 0.96431 0.97455 0.67177 0.9984361 0 0.9984993 TRUE 3.65539e-05 ENSE00002417995_011 ENSE00002417995 011 3 128974864 128975033 + 47 87 36 T C 128975004 2724 141 AGTGTTTTAAATATCACTCCCTTGCTCACGTCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256160 129256161 129256161 downstr_intron 7 1.2 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGACGTGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 172 328 0.9438465 0.9549668 0.9494067 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.04155118 0.2494194 0.8291447 0.8039214 NA 0.1454853 NA FALSE NA 0 -0.45 . splice_region_variant&intron_variant LOW COPG1 HGNC 2236 ENST00000314797 8/23 1 NA ATG T,C 8.236e-06 3:129256161 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 splice_region_variant 0.491559 0.19427 0.07624 0.069865 0.6320355 0.190163 0.9984993 TRUE 4.06388e-06 ENSE00002417995_012 ENSE00002417995 012 3 128974864 128975033 + 47 87 36 G A 128975005 2725 142 AGTGTTTTAAATATCACTCCCTTGCTCATATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256161 129256162 129256162 downstr_intron 8 1.228571 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATATGAGCAAGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 473 982 0.9753707 0.9875487 0.9814597 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.0730754 0.2820012 0.8291447 0.8039214 NA 0.1775383 NA FALSE NA 0 0.053 . splice_region_variant&intron_variant LOW COPG1 HGNC 2236 ENST00000314797 8/23 1 NA TGT G,A 5.765e-05 3:129256162 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 splice_region_variant 0.551679 0.19057 0.11232 0.069865 0.5872591 0.190163 0.9984993 TRUE 5.28399e-05 ENSE00002417995_013 ENSE00002417995 013 3 128974864 128975033 + 47 87 36 A G 128975012 2726 149 AGTGTTTTAAATATCACTCCCCTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256168 129256169 129256169 downstr_intron 15 1.428571 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAGGGGAGTGATATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 280 344 0.9824008 0.9517314 0.9670661 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.08010547 0.246184 0.8291447 0.8039214 NA 0.1631447 NA FALSE NA 0 -0.045 rs6764633 intron_variant MODIFIER COPG1 HGNC 2236 ENST00000314797 8/23 rs6764633 1 G:0.0094 G:0.0325 G:0.0058 NA G:0 G:0 G:0 G:0.0338 G:0.0001 AAG A,G 0.003196 3:129256169 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 intron_variant 0.55866 0.15253 0.01442 0.069865 0.678129 0.0713813 0.9984993 TRUE 0.00251739 ENSE00002417995_014 ENSE00002417995 014 3 128974864 128975033 + 47 87 36 A G 128975020 2727 157 AGTGTTTTAAATACCACTCCCTTGCTCACATCTCACCTGGACCATGATGTTATCACTGGATGCTGCCTCCTGAGCCTCATTCACCCAGCGCTTGACCACGTCAAAGCTGCACTTCAGCAGGTGCTGTGGGCAACAGGACACATTAAGGGGCAGGTAGGAAGTGTCCCCAT 129256020 129256190 129256176 129256177 129256177 downstr_intron 23 1.657143 ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGGTATTTAAAACACT ATGGGGACACTTCCTACCTGCCCCTTAATGTGTCCTGTTGCCCACAGCACCTGCTGAAGTGCAGCTTTGACGTGGTCAAGCGCTGGGTGAATGAGGCTCAGGAGGCAGCATCCAGTGATAACATCATGGTCCAGGTGAGATGTGAGCAAGGGAGTGATATTTAAAACACT mutant NA NA NA NA NA 319 527 0.9632335 0.9671506 0.965192 0.85 0.8082893 0.9022953 0.7055475 NA NA 0.06093819 0.2616031 0.8291447 0.8039214 NA 0.1612706 NA FALSE NA 0 -1.843 . intron_variant MODIFIER COPG1 HGNC 2236 ENST00000314797 8/23 1 NA GAT A,G 8.236e-06 3:129256177 COPG1 HGNC Symbol protein_coding 28167 ENSG00000181789 ENSE00003489437 intron_variant 1.112529 0.13497 0.05332 0.069865 0.8036157 0.0713813 0.9984993 TRUE 4.07034e-06 ENSE00002418231_000 ENSE00002418231 000 17 26686293 26686462 + 45 90 35 NA NA NA NA NA CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 NA NA NA NA NA NA ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG natural 61 28 0.9994333 0.9943211 0.9968772 4599 2779 0.9927051 0.8674368 0.930071 0.9994333 0.9943211 0.9927051 0.8674368 0 0 0 0 0.9968772 0.930071 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ERAP1 NA NA NA NA ENSE00003458426 NA NA NA NA NA NA NA 9.990095e-18 FALSE NA ENSE00002418231_019 ENSE00002418231 019 17 26686293 26686462 + 45 90 35 C T 26686406 1084 114 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTAATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359382 28359383 28359383 exon -22 0.7666667 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATTACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 984 359 1 1 1 0.9994333 0.9943211 0.9927051 0.8674368 NA NA 0.007294889 0.1325632 0.9968772 0.930071 NA 0.06992903 NA FALSE NA 0.999 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENSE00003458426 synonymous_variant 2.224704 0.96949 0.83454 0.706298 0.8540048 0 NA NA 1.62459e-05 ENSE00002418231_022 ENSE00002418231 022 17 26686293 26686462 + 45 90 35 G T 26686411 1087 119 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGAGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359387 28359388 28359388 exon -17 0.8222222 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCTCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 184 212 1 1 1 0.9994333 0.9943211 0.9927051 0.8674368 NA NA 0.007294889 0.1325632 0.9968772 0.930071 NA 0.06992903 NA FALSE NA 1 3.721 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TMEM199 NA NA NA ENSG00000244045 ENSE00003458426 missense_variant 5.51105 0.97776 0.96718 0.706298 0.9972081 0 0.0006536853 FALSE 4.0618e-06 ENSE00002418575_000 ENSE00002418575 000 12 104078725 104078894 + 42 96 32 NA NA NA NA NA TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 NA NA NA NA NA NA TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG natural NA NA NA NA NA 1506 1618 0.9257801 0.9849599 0.95537 NA NA 0.9257801 0.9849599 NA NA 0 0 NA 0.95537 NA 0 NA FALSE NA NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00002418575 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00002418575_001 ENSE00002418575 001 12 104078725 104078894 + 42 96 32 G A 104078735 2808 11 TTTTTGTTGGAGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103684956 103684957 103684957 upstr_intron -32 -0.7380952 TTTTTGTTGGAGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 2612 174 0.9991859 1 0.999593 NA NA 0.9257801 0.9849599 NA NA 0.07340583 0.01504009 NA 0.95537 NA 0.04422296 NA FALSE NA 0.038 1.025 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 26/68 1 NA GGG G 1.647e-05 12:103684957 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 intron_variant 0.320064 0.32076 0.01988 0.053691 0.633702 0.0431032 4.175676e-28 FALSE 1.22078e-05 ENSE00002418575_002 ENSE00002418575 002 12 104078725 104078894 + 42 96 32 A G 104078739 2809 15 TTTTTGTTGGGGTAGCCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103684960 103684961 103684961 upstr_intron -28 -0.6428571 TTTTTGTTGGGGTAGCCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 146 1185 1 1 1 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.01504009 NA 0.95537 NA 0.04462999 NA FALSE NA 0 -0.225 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 26/68 1 NA AAC A 2.471e-05 12:103684961 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 intron_variant 0.14768 0.2881 0.03872 0.053691 0.487394 0.0431032 4.175676e-28 FALSE 1.22023e-05 ENSE00002418575_003 ENSE00002418575 003 12 104078725 104078894 + 42 96 32 T C 104078744 2810 20 TTTTTGTTGGGGTAACCATCTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103684965 103684966 103684966 upstr_intron -23 -0.5238095 TTTTTGTTGGGGTAACCATCTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 311 108 1 1 1 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.01504009 NA 0.95537 NA 0.04462999 NA FALSE NA 0 -2.59 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 26/68 rs368134230 1 NA C:0 C:0.0002 TTT T 2.471e-05 12:103684966 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 intron_variant 0.089387 0.18015 0.00622 0.053691 0.4249291 0.0431032 4.175676e-28 FALSE 1.62633e-05 ENSE00002418575_004 ENSE00002418575 004 12 104078725 104078894 + 42 96 32 G T 104078757 2811 33 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGTTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103684978 103684979 103684979 upstr_intron -10 -0.2142857 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGTTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 288 341 1 1 1 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.01504009 NA 0.95537 NA 0.04462999 NA FALSE NA 0.003 -0.4 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 26/68 1 NA GGT G 3.295e-05 12:103684979 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 intron_variant -0.155271 0.2267 0.02172 0.053691 0.3594506 0.0890112 4.175676e-28 FALSE 1.62596e-05 ENSE00002418575_005 ENSE00002418575 005 12 104078725 104078894 + 42 96 32 T A 104078759 2812 35 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTATTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103684980 103684981 103684981 upstr_intron -8 -0.1666667 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTATTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 1956 74 0.9921206 0.9978568 0.9949887 NA NA 0.9257801 0.9849599 NA NA 0.06634047 0.01289684 NA 0.95537 NA 0.03961866 NA FALSE NA 0.394 0.277 . splice_region_variant&intron_variant LOW STAB2 HGNC 18629 ENST00000388887 26/68 1 NA TTT T 8.236e-06 12:103684981 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 splice_region_variant 0.04074 0.28189 0.06275 0.053691 0.42507 0.144689 4.175676e-28 FALSE 8.12982e-06 ENSE00002418575_006 ENSE00002418575 006 12 104078725 104078894 + 42 96 32 C T 104078772 2813 48 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGTTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103684993 103684994 103684994 exon 6 0.0625 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGTTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 548 586 0.9959885 1 0.9979943 NA NA 0.9257801 0.9849599 NA NA 0.07020842 0.01504009 NA 0.95537 NA 0.04262425 NA FALSE NA 0.462 0.405 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 27/69 1 NA GCT C 8.236e-06 12:103684994 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 synonymous_variant 0.475093 0.84757 0.18806 0.487112 0.4116819 0 4.175676e-28 FALSE 8.12764e-06 ENSE00002418575_007 ENSE00002418575 007 12 104078725 104078894 + 42 96 32 G A 104078774 2814 50 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTATCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103684995 103684996 103684996 exon 8 0.08333333 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTATCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 1038 21 0.9407232 1 0.9703616 NA NA 0.9257801 0.9849599 NA NA 0.01494312 0.01504009 NA 0.95537 NA 0.0149916 NA FALSE NA 1 7.414 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 rs370156296 1 deleterious(0) probably_damaging(0.999) NA A:0 A:0.0001 TGT G 1.647e-05 12:103684996 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 5.272276 0.99365 0.9943 0.487112 0.9891371 0 4.175676e-28 FALSE 8.12618e-06 ENSE00002418575_009 ENSE00002418575 009 12 104078725 104078894 + 42 96 32 A G 104078782 2816 58 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTGCTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685003 103685004 103685004 exon 16 0.1666667 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTGCTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 459 648 0.9937159 0.9784112 0.9860636 NA NA 0.9257801 0.9849599 NA NA 0.06793579 -0.006548681 NA 0.95537 NA 0.03069355 NA FALSE NA 0 0.686 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 tolerated(0.69) benign(0.017) NA TAC A 3.295e-05 12:103685004 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant -1.443333 0.20727 0.03897 0.487112 0.3496291 0 4.175676e-28 FALSE 1.62504e-05 ENSE00002418575_010 ENSE00002418575 010 12 104078725 104078894 + 42 96 32 C T 104078786 2817 62 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTTGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685007 103685008 103685008 exon 20 0.2083333 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTTGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 405 455 0.9949646 0.9976231 0.9962939 NA NA 0.9257801 0.9849599 NA NA 0.06918453 0.0126632 NA 0.95537 NA 0.04092386 NA FALSE NA 0.009 3.053 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 COSM3455276 1 tolerated(0.09) benign(0.137) NA TCG C 7.413e-05 12:103685008 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 2.556557 0.57799 0.51888 0.487112 0.9316527 0 4.175676e-28 FALSE 0.000109702 ENSE00002418575_011 ENSE00002418575 011 12 104078725 104078894 + 42 96 32 G A 104078787 2818 63 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCATCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685008 103685009 103685009 exon 21 0.21875 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCATCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 337 214 1 0.9925542 0.9962771 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.007594253 NA 0.95537 NA 0.04090707 NA FALSE NA 0 -2.276 rs150100761 synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 27/69 rs150100761&COSM3954071 1 NA A:0.0002 A:0 CGT G 4.942e-05 12:103685009 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 synonymous_variant 0.482625 0.12533 0.02106 0.487112 0.4039427 0 4.175676e-28 FALSE 4.46904e-05 ENSE00002418575_014 ENSE00002418575 014 12 104078725 104078894 + 42 96 32 G T 104078817 2821 93 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGATGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685038 103685039 103685039 exon -46 0.53125 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGATGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 159 597 0.9971176 1 0.9985588 NA NA 0.9257801 0.9849599 NA NA 0.07133752 0.01504009 NA 0.95537 NA 0.04318881 NA FALSE NA 0.768 -0.413 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 tolerated(0.3) benign(0.043) NA AGG G 8.236e-06 12:103685039 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 2.213692 0.96835 0.49349 0.487112 0.9875728 0 4.175676e-28 FALSE NA ENSE00002418575_015 ENSE00002418575 015 12 104078725 104078894 + 42 96 32 A G 104078822 2822 98 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTGTGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685043 103685044 103685044 exon -41 0.5833333 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTGTGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 505 346 0.9717541 0.9933545 0.9825543 NA NA 0.9257801 0.9849599 NA NA 0.04597401 0.008394553 NA 0.95537 NA 0.02718428 NA FALSE NA 1 5.602 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 deleterious(0) probably_damaging(0.978) NA TAT A 8.236e-06 12:103685044 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 6.418087 0.99199 0.99002 0.487112 0.9985859 0 4.175676e-28 FALSE 2.437e-05 ENSE00002418575_016 ENSE00002418575 016 12 104078725 104078894 + 42 96 32 G C 104078828 2823 104 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGCAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685049 103685050 103685050 exon -35 0.6458333 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGCAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 191 305 0.8915316 0.9984412 0.9449864 NA NA 0.9257801 0.9849599 NA NA -0.03424847 0.01348129 NA 0.95537 NA -0.01038359 NA FALSE NA 1 7.701 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 deleterious(0) probably_damaging(0.917) NA GGA G 8.236e-06 12:103685050 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 5.846624 0.99437 0.99583 0.487112 0.9986781 0 4.175676e-28 FALSE 4.06141e-06 ENSE00002418575_017 ENSE00002418575 017 12 104078725 104078894 + 42 96 32 G A 104078830 2824 106 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAAATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685051 103685052 103685052 exon -33 0.6666667 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAAATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 414 180 1 1 1 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.01504009 NA 0.95537 NA 0.04462999 NA FALSE NA 1 1.955 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 tolerated(0.21) benign(0.026) NA AGA G 8.236e-06 12:103685052 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 2.467292 0.66354 0.78066 0.487112 0.9963465 0 4.175676e-28 FALSE NA ENSE00002418575_018 ENSE00002418575 018 12 104078725 104078894 + 42 96 32 G A 104078833 2825 109 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATAGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685054 103685055 103685055 exon -30 0.6979167 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATAGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 849 65 0.9985244 1 0.9992622 NA NA 0.9257801 0.9849599 NA NA 0.07274426 0.01504009 NA 0.95537 NA 0.04389217 NA FALSE NA 1 7.701 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 deleterious(0) probably_damaging(0.914) NA TGG G 8.236e-06 12:103685055 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 6.194366 0.98756 0.99321 0.487112 0.9987442 0 4.175676e-28 FALSE 4.06157e-06 ENSE00002418575_019 ENSE00002418575 019 12 104078725 104078894 + 42 96 32 T C 104078836 2826 112 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCCTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685057 103685058 103685058 exon -27 0.7291667 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCCTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 623 605 0.9982698 0.9971181 0.9976939 NA NA 0.9257801 0.9849599 NA NA 0.07248964 0.01215822 NA 0.95537 NA 0.04232393 NA FALSE NA 0 -0.11 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 tolerated(1) benign(0.001) NA CTT T 8.236e-06 12:103685058 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 0.220003 0.18711 0.00806 0.487112 0.8142343 0 4.175676e-28 FALSE 4.06161e-06 ENSE00002418575_020 ENSE00002418575 020 12 104078725 104078894 + 42 96 32 C T 104078839 2827 115 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTTTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685060 103685061 103685061 exon -24 0.7604167 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTTTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 2492 265 0.9745162 0.9846189 0.9795676 NA NA 0.9257801 0.9849599 NA NA 0.04873609 -0.0003409669 NA 0.95537 NA 0.02419756 NA FALSE NA 0.957 2.3 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 27/69 1 NA TCT C 8.236e-06 12:103685061 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 synonymous_variant 1.846105 0.90616 0.88678 0.487112 0.7314055 0 4.175676e-28 FALSE 4.06151e-06 ENSE00002418575_021 ENSE00002418575 021 12 104078725 104078894 + 42 96 32 T G 104078840 2828 116 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCGGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685061 103685062 103685062 exon -23 0.7708333 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCGGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 79 360 0.8584874 0.9998942 0.9291908 NA NA 0.9257801 0.9849599 NA NA -0.0672927 0.0149343 NA 0.95537 NA -0.0261792 NA FALSE NA 0.979 1.545 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 deleterious(0.02) benign(0.027) NA CTG T 8.236e-06 12:103685062 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 2.98218 0.96269 0.91899 0.487112 0.9877104 0 4.175676e-28 FALSE 4.06161e-06 ENSE00002418575_023 ENSE00002418575 023 12 104078725 104078894 + 42 96 32 G A 104078854 2830 130 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACACAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685075 103685076 103685076 exon -9 0.9166667 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACACAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 366 1301 0.9976145 0.9977093 0.9976619 NA NA 0.9257801 0.9849599 NA NA 0.07183442 0.01274934 NA 0.95537 NA 0.04229188 NA FALSE NA 0.584 3.883 NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103685076 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 3.558684 0.9538 0.9056 0.487112 0.9959735 0 4.175676e-28 FALSE 2.84356e-05 ENSE00002418575_024 ENSE00002418575 024 12 104078725 104078894 + 42 96 32 C T 104078855 2831 131 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGTAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685076 103685077 103685077 exon -8 0.9270833 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGTAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 289 384 0.9988552 0.9994884 0.9991718 NA NA 0.9257801 0.9849599 NA NA 0.07307509 0.01452853 NA 0.95537 NA 0.04380181 NA FALSE NA 0.02 0.157 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 rs541154627 1 tolerated(1) benign(0.011) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCA C 0.0001318 12:103685077 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 0.199869 0.24719 0.04907 0.487112 0.3053163 0 4.175676e-28 FALSE 0.000125931 ENSE00002418575_025 ENSE00002418575 025 12 104078725 104078894 + 42 96 32 G A 104078857 2832 133 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAACAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685078 103685079 103685079 exon -6 0.9479167 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAACAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 406 212 1 0.9998203 0.9999101 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.01486037 NA 0.95537 NA 0.04454013 NA FALSE NA 0.522 3.167 rs142766388 missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 rs142766388 1 tolerated(0.24) possibly_damaging(0.581) NA A:0 A:0.0002 AGC G 8.236e-06 12:103685079 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 3.469968 0.60778 0.8225 0.487112 0.9949431 0 4.175676e-28 FALSE 1.62499e-05 ENSE00002418575_026 ENSE00002418575 026 12 104078725 104078894 + 42 96 32 C T 104078858 2833 134 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGTAGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685079 103685080 103685080 exon -5 0.9583333 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGTAGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 979 481 0.9995789 0.99583 0.9977045 NA NA 0.9257801 0.9849599 NA NA 0.07379877 0.01087012 NA 0.95537 NA 0.04233444 NA FALSE NA 0.328 1.213 . missense_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 tolerated(0.28) possibly_damaging(0.788) NA GCA C 8.236e-06 12:103685080 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 3.315298 0.32213 0.31654 0.487112 0.9766545 0 4.175676e-28 FALSE 4.06276e-06 ENSE00002418575_027 ENSE00002418575 027 12 104078725 104078894 + 42 96 32 A G 104078859 2834 135 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCGGTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685080 103685081 103685081 exon -4 0.96875 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCGGTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 440 492 1 0.9982799 0.99914 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.01331999 NA 0.95537 NA 0.04376994 NA FALSE NA 0.074 -0.458 . synonymous_variant LOW STAB2 HGNC 18629 ENST00000388887 27/69 1 NA CAG A 8.236e-06 12:103685081 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 synonymous_variant 0.588776 0.15028 0.10514 0.487112 0.3779406 0 4.175676e-28 FALSE 8.12473e-06 ENSE00002418575_028 ENSE00002418575 028 12 104078725 104078894 + 42 96 32 G T 104078860 2835 136 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCATTGGTAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685081 103685082 103685082 exon -3 0.9791667 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCATTGGTAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 74 1191 1 0.9924899 0.996245 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.007530021 NA 0.95537 NA 0.04087495 NA FALSE NA 0.2 1.302 . missense_variant&splice_region_variant MODERATE STAB2 HGNC 18629 ENST00000388887 27/69 1 tolerated(0.3) benign(0.118) NA AGT G 1.647e-05 12:103685082 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 missense_variant 2.166733 0.96869 0.92529 0.487112 0.9710872 0 4.175676e-28 FALSE 4.0623e-06 ENSE00002418575_029 ENSE00002418575 029 12 104078725 104078894 + 42 96 32 G T 104078867 2836 143 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAATTCATCGATGATGAACTCAATAATATAG 103684946 103685116 103685088 103685089 103685089 downstr_intron 5 1.16129 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAATTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 2198 655 0.9997188 0.9964915 0.9981051 NA NA 0.9257801 0.9849599 NA NA 0.0739387 0.01153154 NA 0.95537 NA 0.04273512 NA FALSE NA 1 7.46 . splice_region_variant&intron_variant LOW STAB2 HGNC 18629 ENST00000388887 27/68 1 NA AGT G 8.236e-06 12:103685089 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 splice_region_variant 2.00041 0.99433 0.99537 0.077785 0.9702237 0.984769 4.175676e-28 FALSE 4.06296e-06 ENSE00002418575_030 ENSE00002418575 030 12 104078725 104078894 + 42 96 32 C T 104078872 2837 148 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATTGATGATGAACTCAATAATATAG 103684946 103685116 103685093 103685094 103685094 downstr_intron 10 1.322581 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATTGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 258 48 1 1 1 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.01504009 NA 0.95537 NA 0.04462999 NA FALSE NA 0 0.359 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103685094 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 intron_variant 0.210311 0.30936 0.01502 0.077785 0.4772347 0.045676 4.175676e-28 FALSE 4.06504e-05 ENSE00002418575_031 ENSE00002418575 031 12 104078725 104078894 + 42 96 32 C A 104078872 2838 148 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATAGATGATGAACTCAATAATATAG 103684946 103685116 103685093 103685094 103685094 downstr_intron 10 1.322581 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATAGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 889 132 0.8138608 0.9988 0.9063304 NA NA 0.9257801 0.9849599 NA NA -0.1119193 0.01384007 NA 0.95537 NA -0.04903961 NA FALSE NA 0 0.359 NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00002418575 intron_variant 0.27119 0.36836 0.09308 0.077785 0.4557146 0.045676 4.175676e-28 FALSE 4.06504e-06 ENSE00002418575_032 ENSE00002418575 032 12 104078725 104078894 + 42 96 32 G T 104078879 2839 155 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATTAACTCAATAATATAG 103684946 103685116 103685100 103685101 103685101 downstr_intron 17 1.548387 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATTAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 344 406 1 0.9967392 0.9983696 NA NA 0.9257801 0.9849599 NA NA 0.07421989 0.01177925 NA 0.95537 NA 0.04299957 NA FALSE NA 0 -0.198 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 27/68 rs564285176 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TGA G 3.295e-05 12:103685101 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 intron_variant -0.446663 0.13676 0.05783 0.077785 0.4156827 0.0601625 4.175676e-28 FALSE 1.21969e-05 ENSE00002418575_033 ENSE00002418575 033 12 104078725 104078894 + 42 96 32 A T 104078880 2840 156 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGTACTCAATAATATAG 103684946 103685116 103685101 103685102 103685102 downstr_intron 18 1.580645 TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGTACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG mutant NA NA NA NA NA 1436 845 0.801507 0.9945912 0.8980491 NA NA 0.9257801 0.9849599 NA NA -0.1242731 0.009631301 NA 0.95537 NA -0.0573209 NA FALSE NA 0.001 1.15 . intron_variant MODIFIER STAB2 HGNC 18629 ENST00000388887 27/68 1 NA GAA A 8.236e-06 12:103685102 STAB2 HGNC Symbol protein_coding 179454 ENSG00000136011 ENSE00002418575 intron_variant -0.075604 0.27774 0.21525 0.077785 0.3946477 0.0601625 4.175676e-28 FALSE 4.06531e-06 ENSE00002418575_BRK ENSE00002418575 BRK 12 104078725 104078894 + 42 96 32 A,G; T,T NA NA NA TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCTTGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGCCAAGTCATCGATGATGAACTCAATAATATAG 103684946 103685116 NA NA NA NA NA NA TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCTTGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGCCAAGTCATCGATGATGAACTCAATAATATAG TTTTTGTTGGGGTAACCATTTCTTTCATCTTGGTTTTCTCAGGCAAGCTGTCAATCTACTTCGTCTGGTGTCTGGAGCTGTGTTTGTCAAGAGGGCTATGAAGGAGATGGCTTTCTGTGCTATGGAAACGCAGCAGTGGTAAGTCATCGATGATGAACTCAATAATATAG control NA NA NA NA NA 1505 395 0.08155034 0.001281015 0.04141568 NA NA 0.9257801 0.9849599 NA NA -0.8442298 -0.9836789 NA 0.95537 NA -0.9139543 NA TRUE NA NA NA NA NA NA STAB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAB2 NA NA NA ENSG00000136011 ENSE00002418575 NA NA NA NA NA NA NA 4.175676e-28 FALSE NA ENSE00002418970_000 ENSE00002418970 000 5 176859183 176859352 + 51 78 41 NA NA NA NA NA CTCTGGTGGCTCCCATCATCTCTCCATCGCTGCTCACTCACCGTGTGGCTCAGAAAATTCTGCGTTAGCTGCCGCCCACATGCCTTCCGCTTGTCATCCGGGGTCACTTCATACTCGGCCTGCAGGGTGGAAAGCAAAGAAGCTGGAGGTCTGGGCAGGGCAAGCAGCAG 177432181 177432351 NA NA NA NA NA NA CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG natural NA NA NA NA NA 1412 730 0.9974227 0.9967507 0.9970867 NA NA 0.9974227 0.9967507 NA NA 0 0 NA 0.9970867 NA 0 NA FALSE NA NA NA NA NA NA GRK6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA GRK6 NA NA NA ENSG00000198055 ENSE00003680259 NA NA NA NA NA NA NA 0.2488411 FALSE NA ENSE00002418970_001 ENSE00002418970 001 5 176859183 176859352 + 51 78 41 C G 176859193 2452 11 CTCTGGTGGCTCCCATCATCTCTCCATCGCTGCTCACTCACCGTGTGGCTCAGAAAATTCTGCGTTAGCTGCCGCCCACATGCCTTCCGCTTGTCATCCGGGGTCACTTCATACTCGGCCTGCAGGGTGGAAAGCAAAGAAGCTGGAGGTCTGGGCAGGCCAAGCAGCAG 177432181 177432351 177432191 177432192 177432192 upstr_intron -41 -0.7843137 CTGCTGCTTGGCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG mutant NA NA NA NA NA 76 55 1 0.8045766 0.9022883 NA NA 0.9974227 0.9967507 NA NA 0.002577265 -0.1921742 NA 0.9970867 NA -0.09479845 NA FALSE NA 0 0.137 . downstream_gene_variant MODIFIER GRK6 HGNC 4545 ENST00000512684 1 NA GCC C,G 1.647e-05 5:177432192 GRK6 HGNC Symbol protein_coding 39697 ENSG00000198055 ENSE00003680259 intron_variant 0.209614 0.37865 0.23008 0.279481 0.368115 0.0752193 0.2488411 FALSE 4.8881e-05 ENSE00002418970_014 ENSE00002418970 014 5 176859183 176859352 + 51 78 41 C T 176859264 2465 82 CTCTGGTGGCTCCCATCATCTCTCCATCGCTGCTCACTCACCGTGTGGCTCAGAAAATTCTGCGTTAGCTGCCGCCCACATGCCTTCCACTTGTCATCCGGGGTCACTTCATACTCGGCCTGCAGGGTGGAAAGCAAAGAAGCTGGAGGTCTGGGCAGGGCAAGCAGCAG 177432181 177432351 177432262 177432263 177432263 exon 31 0.3974359 CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGTGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG mutant NA NA NA NA NA 76 155 1 0.9487956 0.9743978 NA NA 0.9974227 0.9967507 NA NA 0.002577265 -0.04795516 NA 0.9970867 NA -0.02268895 NA FALSE NA 1 1.147 . downstream_gene_variant MODIFIER GRK6 HGNC 4545 ENST00000512684 1 NA GCG C,T 1.647e-05 5:177432263 GRK6 HGNC Symbol protein_coding 39697 ENSG00000198055 ENSE00003680259 missense_variant 7.123822 0.9664 0.77661 0.730579 0.9991571 0 0.2488411 FALSE 8.12625e-06 ENSE00002418970_017 ENSE00002418970 017 5 176859183 176859352 + 51 78 41 G A 176859274 2468 92 CTCTGGTGGCTCCCATCATCTCTCCATCGCTGCTCACTCACCGTGTGGCTCAGAAAATTCTGCGTTAGCTGCCGCCCATATGCCTTCCGCTTGTCATCCGGGGTCACTTCATACTCGGCCTGCAGGGTGGAAAGCAAAGAAGCTGGAGGTCTGGGCAGGGCAAGCAGCAG 177432181 177432351 177432272 177432273 177432273 exon -38 0.525641 CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATATGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG mutant NA NA NA NA NA 157 34 0.99158 0.9556817 0.9736308 NA NA 0.9974227 0.9967507 NA NA -0.005842698 -0.04106906 NA 0.9970867 NA -0.02345588 NA FALSE NA 1 4.119 . downstream_gene_variant MODIFIER GRK6 HGNC 4545 ENST00000512684 1 NA TGT G,A 1.647e-05 5:177432273 GRK6 HGNC Symbol protein_coding 39697 ENSG00000198055 ENSE00003680259 missense_variant 2.770199 0.95678 0.83897 0.730579 0.8637961 0 0.2488411 FALSE 4.06312e-06 ENSE00002418970_022 ENSE00002418970 022 5 176859183 176859352 + 51 78 41 C T 176859300 2473 118 CTCTGGTGGCTCCCATCATCTCTCCATCGCTGCTCACTCACCGTGTGGCTCAAAAAATTCTGCGTTAGCTGCCGCCCACATGCCTTCCGCTTGTCATCCGGGGTCACTTCATACTCGGCCTGCAGGGTGGAAAGCAAAGAAGCTGGAGGTCTGGGCAGGGCAAGCAGCAG 177432181 177432351 177432298 177432299 177432299 exon -12 0.8589744 CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTTTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG mutant NA NA NA NA NA 200 47 1 1 1 NA NA 0.9974227 0.9967507 NA NA 0.002577265 0.003249275 NA 0.9970867 NA 0.00291327 NA FALSE NA 0.995 0.738 . downstream_gene_variant MODIFIER GRK6 HGNC 4545 ENST00000512684 1 NA TCT C,T 4.118e-05 5:177432299 GRK6 HGNC Symbol protein_coding 39697 ENSG00000198055 ENSE00003680259 synonymous_variant 2.01132 0.96403 0.54233 0.730579 0.9460784 0 0.2488411 FALSE 4.4714e-05 ENSE00002418970_024 ENSE00002418970 024 5 176859183 176859352 + 51 78 41 C A 176859310 2475 128 CTCTGGTGGCTCCCATCATCTCTCCATCGCTGCTCACTCACCTTGTGGCTCAGAAAATTCTGCGTTAGCTGCCGCCCACATGCCTTCCGCTTGTCATCCGGGGTCACTTCATACTCGGCCTGCAGGGTGGAAAGCAAAGAAGCTGGAGGTCTGGGCAGGGCAAGCAGCAG 177432181 177432351 177432308 177432309 177432309 exon -2 0.9871795 CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACAAGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG mutant NA NA NA NA NA 315 76 1 1 1 NA NA 0.9974227 0.9967507 NA NA 0.002577265 0.003249275 NA 0.9970867 NA 0.00291327 NA FALSE NA 1 1.127 NA NA NA GRK6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:177432309 GRK6 HGNC Symbol protein_coding 39697 ENSG00000198055 ENSE00003680259 missense_variant 1.875143 0.94793 0.61455 0.730579 0.9110962 0 0.2488411 FALSE 1.62645e-05 ENSE00002418970_025 ENSE00002418970 025 5 176859183 176859352 + 51 78 41 C T 176859324 2476 142 CTCTGGTGGCTCCCATCATCTCTCCATCACTGCTCACTCACCGTGTGGCTCAGAAAATTCTGCGTTAGCTGCCGCCCACATGCCTTCCGCTTGTCATCCGGGGTCACTTCATACTCGGCCTGCAGGGTGGAAAGCAAAGAAGCTGGAGGTCTGGGCAGGGCAAGCAGCAG 177432181 177432351 177432322 177432323 177432323 downstr_intron 13 1.325 CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGTGATGGAGAGATGATGGGAGCCACCAGAG CTGCTGCTTGCCCTGCCCAGACCTCCAGCTTCTTTGCTTTCCACCCTGCAGGCCGAGTATGAAGTGACCCCGGATGACAAGCGGAAGGCATGTGGGCGGCAGCTAACGCAGAATTTTCTGAGCCACACGGTGAGTGAGCAGCGATGGAGAGATGATGGGAGCCACCAGAG mutant NA NA NA NA NA 18 214 1 0.999822 0.999911 NA NA 0.9974227 0.9967507 NA NA 0.002577265 0.003071242 NA 0.9970867 NA 0.002824253 NA FALSE NA 0.112 -0.281 . downstream_gene_variant MODIFIER GRK6 HGNC 4545 ENST00000512684 1 NA GCG C,T 2.471e-05 5:177432323 GRK6 HGNC Symbol protein_coding 39697 ENSG00000198055 ENSE00003680259 intron_variant 2.061198 0.1746 0.01236 0.101703 0.9171579 0.303876 0.2488411 FALSE 2.03457e-05 ENSE00002419170_000 ENSE00002419170 000 3 52507708 52507877 + 42 96 32 NA NA NA NA NA GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 NA NA NA NA NA NA GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT natural 250 261 0.9976309 0.9976663 0.9976486 6100 6383 0.9762574 0.9815895 0.9789234 0.9976309 0.9976663 0.9762574 0.9815895 0 0 0 0 0.9976486 0.9789234 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NISCH NA NA NA ENSG00000010322 ENSE00003472034 NA NA NA NA NA NA NA 0.8171014 FALSE NA ENSE00002419170_001 ENSE00002419170 001 3 52507708 52507877 + 42 96 32 G C 52507719 1664 12 GCAAGGATTCTCTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473702 52473703 52473703 upstr_intron -31 -0.7142857 GCAAGGATTCTCTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 2228 916 0.9971434 0.9956888 0.9964161 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02088603 0.01409932 0.9976486 0.9789234 NA 0.01749267 NA FALSE NA 0.159 0.413 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:52473703 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 intron_variant -0.316422 0.16671 0.14905 0.256867 0.3862477 0.0526402 0.8171014 FALSE 0.421393 ENSE00002419170_002 ENSE00002419170 002 3 52507708 52507877 + 42 96 32 G A 52507719 1665 12 GCAAGGATTCTATTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473702 52473703 52473703 upstr_intron -31 -0.7142857 GCAAGGATTCTATTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1786 304 1 1 1 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02374263 0.01841054 0.9976486 0.9789234 NA 0.02107658 NA FALSE NA 0.159 0.413 NA NA NA NISCH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NISCH NA NA NA ENSG00000010322 ENSE00003472034 intron_variant -0.018577 0.13333 0.01986 0.256867 0.5173408 0.0526402 0.8171014 FALSE 0.000104798 ENSE00002419170_003 ENSE00002419170 003 3 52507708 52507877 + 42 96 32 C A 52507739 1666 32 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTATTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473722 52473723 52473723 upstr_intron -11 -0.2380952 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTATTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 181 336 0.9880475 0.9975854 0.9928165 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.01179012 0.01599595 0.9976486 0.9789234 NA 0.01389304 NA FALSE NA 0 -1.354 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 1 NA TCT C,A 8.236e-06 3:52473723 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 intron_variant 0.284468 0.25156 0.16141 0.256867 0.3632909 0.139182 0.8171014 FALSE 4.11184e-06 ENSE00002419170_005 ENSE00002419170 005 3 52507708 52507877 + 42 96 32 A G 52507750 1668 43 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGGTAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473733 52473734 52473734 exon 1 0.01041667 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGGTAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1378 1192 0.9600385 0.8368492 0.8984439 0.9976309 0.9976663 0.9762574 0.9815895 NA NA -0.01621883 -0.1447403 0.9976486 0.9789234 NA -0.08047955 NA FALSE NA 1 6.019 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 rs533540984 1 NA GAT A,G 8.236e-06 3:52473734 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant 1.992789 0.98643 0.98274 0.706548 0.9925409 0 0.8171014 FALSE 8.168e-06 ENSE00002419170_008 ENSE00002419170 008 3 52507708 52507877 + 42 96 32 A G 52507769 1671 62 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAGGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473752 52473753 52473753 exon 20 0.2083333 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAGGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1391 2763 0.9980364 0.9985966 0.9983165 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02177906 0.01700714 0.9976486 0.9789234 NA 0.0193931 NA FALSE NA 1 2.045 rs144172612 upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 rs144172612 1 G:0.0006 G:0.0023 G:0 NA G:0 G:0 G:0 G:0.0039 G:0 AAG A,G 0.0003459 3:52473753 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant 2.255506 0.97525 0.89199 0.706548 0.9888857 0 0.8171014 FALSE 0.000223859 ENSE00002419170_009 ENSE00002419170 009 3 52507708 52507877 + 42 96 32 G A 52507782 1672 75 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGACTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473765 52473766 52473766 exon 33 0.34375 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGACTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1059 2626 1 0.9568515 0.9784258 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02374263 -0.02473794 0.9976486 0.9789234 NA -0.0004976547 NA FALSE NA 0.245 -0.57 rs56114678 upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 rs56114678 1 A:0.0166 A:0.0008 A:0.013 NA A:0.001 A:0.0517 A:0.0204 A:0.0104 A:0.0506 GGC G,A 0.037 3:52473766 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 synonymous_variant 1.116446 0.94453 0.31825 0.706548 0.5635728 0 0.8171014 FALSE 0.03823 ENSE00002419170_010 ENSE00002419170 010 3 52507708 52507877 + 42 96 32 C T 52507788 1673 81 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTTGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473771 52473772 52473772 exon 39 0.40625 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTTGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 2196 2538 0.9992315 0.9966562 0.9979439 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02297415 0.01506675 0.9976486 0.9789234 NA 0.01902045 NA FALSE NA 0 -3.766 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 rs370837747 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 T:0 T:0.0001 TCG C,T 0.00014 3:52473772 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 synonymous_variant 1.299296 0.06821 0.01151 0.706548 0.6345635 0 0.8171014 FALSE 0.000150429 ENSE00002419170_011 ENSE00002419170 011 3 52507708 52507877 + 42 96 32 G T 52507789 1674 82 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCTCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473772 52473773 52473773 exon 40 0.4166667 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCTCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 807 1966 0.9912516 0.9779709 0.9846113 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.01499422 -0.003618523 0.9976486 0.9789234 NA 0.005687849 NA FALSE NA 0.785 2.281 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:52473773 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant -1.333976 0.24015 0.27006 0.706548 0.2587109 0 0.8171014 FALSE 6.91434e-05 ENSE00002419170_012 ENSE00002419170 012 3 52507708 52507877 + 42 96 32 G A 52507789 1675 82 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCACATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473772 52473773 52473773 exon 40 0.4166667 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCACATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1019 1055 0.9380297 0.9987226 0.9683762 0.9976309 0.9976663 0.9762574 0.9815895 NA NA -0.03822769 0.01713316 0.9976486 0.9789234 NA -0.01054727 NA FALSE NA 0.785 2.281 NA NA NA NISCH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NISCH NA NA NA ENSG00000010322 ENSE00003472034 missense_variant 0.454049 0.27983 0.52423 0.706548 0.9503368 0 0.8171014 FALSE 0.000313179 ENSE00002419170_013 ENSE00002419170 013 3 52507708 52507877 + 42 96 32 C T 52507793 1676 86 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATTGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473776 52473777 52473777 exon 44 0.4583333 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATTGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 2037 772 0.9986194 0.9983061 0.9984628 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02236207 0.01671665 0.9976486 0.9789234 NA 0.01953936 NA FALSE NA 0.981 2.766 rs147937807 upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 rs147937807 1 NA T:0 T:0.0001 TCG C,T 3.295e-05 3:52473777 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant 2.128503 0.85456 0.84742 0.706548 0.8459729 0 0.8171014 FALSE 3.65848e-05 ENSE00002419170_014 ENSE00002419170 014 3 52507708 52507877 + 42 96 32 G A 52507794 1677 87 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCAAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473777 52473778 52473778 exon 45 0.46875 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCAAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1712 1520 0.9843885 0.9967729 0.9905807 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.008131122 0.0151834 0.9976486 0.9789234 NA 0.01165726 NA FALSE NA 0 -3.176 rs76608301 upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 rs76608301 1 A:0.0008 A:0 A:0 NA A:0 A:0.004 A:0 A:0.0009 A:0.0063 CGA G,A 0.00509 3:52473778 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 synonymous_variant 1.023275 0.09956 0.02837 0.706548 0.529187 0 0.8171014 FALSE 0.00449183 ENSE00002419170_015 ENSE00002419170 015 3 52507708 52507877 + 42 96 32 C G 52507798 1678 91 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGGCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473781 52473782 52473782 exon -48 0.5104167 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGGCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1105 2647 0.9513339 0.9193929 0.9353634 0.9976309 0.9976663 0.9762574 0.9815895 NA NA -0.0249235 -0.0621966 0.9976486 0.9789234 NA -0.04356005 NA FALSE NA 1 3.612 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 1 NA GCC C,G 8.236e-06 3:52473782 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant 0.81082 0.98536 0.97366 0.706548 0.974707 0 0.8171014 FALSE 2.43926e-05 ENSE00002419170_016 ENSE00002419170 016 3 52507708 52507877 + 42 96 32 C T 52507800 1679 93 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCTACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473783 52473784 52473784 exon -46 0.53125 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCTACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 3010 203 0.9994793 0.9887254 0.9941023 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02322192 0.007135932 0.9976486 0.9789234 NA 0.01517893 NA FALSE NA 0.992 0.044 rs61134406 upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 rs61134406 1 T:0.0463 T:0.1702 T:0.0086 NA T:0 T:0.001 T:0 T:0.1051 T:0.0007 CCA C,T 0.011 3:52473784 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 synonymous_variant 1.162118 0.93632 0.71514 0.706548 0.5788149 0 0.8171014 FALSE 0.0090019 ENSE00002419170_017 ENSE00002419170 017 3 52507708 52507877 + 42 96 32 C T 52507803 1680 96 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACTTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473786 52473787 52473787 exon -43 0.5625 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACTTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 2474 298 1 0.9901684 0.9950842 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02374263 0.008578962 0.9976486 0.9789234 NA 0.0161608 NA FALSE NA 0.987 0.179 rs183032337 upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 rs183032337 1 T:0.0024 T:0 T:0 NA T:0 T:0.0119 T:0 T:0 T:0.0002 CCT C,T 0.003929 3:52473787 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 synonymous_variant 1.352226 0.96909 0.66273 0.706548 0.4233711 0 0.8171014 FALSE 0.0050379 ENSE00002419170_018 ENSE00002419170 018 3 52507708 52507877 + 42 96 32 C T 52507808 1681 101 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGTCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473791 52473792 52473792 exon -38 0.6145833 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGTCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1724 340 0.9955257 0.9879611 0.9917434 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.01926837 0.006371609 0.9976486 0.9789234 NA 0.01281999 NA FALSE NA 1 2.969 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 1 NA GCC C,T 1.647e-05 3:52473792 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant 2.269105 0.98642 0.96659 0.706548 0.9989735 0 0.8171014 FALSE 4.06673e-06 ENSE00002419170_019 ENSE00002419170 019 3 52507708 52507877 + 42 96 32 C T 52507811 1682 104 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCATGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473794 52473795 52473795 exon -35 0.6458333 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCATGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1820 2808 0.940412 0.998409 0.9694105 0.9976309 0.9976663 0.9762574 0.9815895 NA NA -0.0358454 0.01681951 0.9976486 0.9789234 NA -0.009512945 NA FALSE NA 1 6.451 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 1 NA ACG C,T 1.647e-05 3:52473795 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant 6.387715 0.99391 0.98992 0.706548 0.9989771 0 0.8171014 FALSE 1.22025e-05 ENSE00002419170_022 ENSE00002419170 022 3 52507708 52507877 + 42 96 32 G A 52507823 1685 116 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCACTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473806 52473807 52473807 exon -23 0.7708333 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCACTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1398 757 0.9997053 0.9955312 0.9976182 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02344788 0.01394178 0.9976486 0.9789234 NA 0.01869483 NA FALSE NA 1 3.485 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 1 NA CGC G,A 1.647e-05 3:52473807 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant 2.898225 0.97944 0.91169 0.706548 0.9985024 0 0.8171014 FALSE 1.63003e-05 ENSE00002419170_023 ENSE00002419170 023 3 52507708 52507877 + 42 96 32 C T 52507824 1686 117 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGTTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473807 52473808 52473808 exon -22 0.78125 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGTTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1297 2344 1 0.9400916 0.9700458 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02374263 -0.04149782 0.9976486 0.9789234 NA -0.008877596 NA FALSE NA 0.849 -0.148 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 1 NA GCT C,T 8.237e-06 3:52473808 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 synonymous_variant 1.957812 0.97129 0.73243 0.706548 0.661373 0 0.8171014 FALSE 4.07279e-06 ENSE00002419170_025 ENSE00002419170 025 3 52507708 52507877 + 42 96 32 C T 52507838 1688 131 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTTGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473821 52473822 52473822 exon -8 0.9270833 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTTGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1726 3097 0.8038232 0.9994786 0.9016509 0.9976309 0.9976663 0.9762574 0.9815895 NA NA -0.1724341 0.01788917 0.9976486 0.9789234 NA -0.07727248 NA FALSE NA 0.996 3.696 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 COSM1692818 1 NA TCG C,T 8.237e-06 3:52473822 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 missense_variant 6.843282 0.98403 0.9669 0.706548 0.9991198 0 0.8171014 FALSE 8.21382e-06 ENSE00002419170_027 ENSE00002419170 027 3 52507708 52507877 + 42 96 32 G C 52507839 1690 132 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCCATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473822 52473823 52473823 exon -7 0.9375 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCCATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 920 426 0.9963805 1 0.9981903 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.02012315 0.01841054 0.9976486 0.9789234 NA 0.01926685 NA FALSE NA 0 -4.651 NA NA NA NISCH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:52473823 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 synonymous_variant 0.348191 0.04992 0.01618 0.706548 0.5973319 0 0.8171014 FALSE 4.11022e-06 ENSE00002419170_029 ENSE00002419170 029 3 52507708 52507877 + 42 96 32 T G 52507852 1692 145 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCGTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 52473835 52473836 52473836 downstr_intron 7 1.225806 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCGTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 1838 2168 0.9984789 0.999927 0.999203 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.0222215 0.01833758 0.9976486 0.9789234 NA 0.02027954 NA FALSE NA 0 -1.248 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 1 NA CTT T,G 5.767e-05 3:52473836 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 splice_region_variant 0.358354 0.17487 0.02119 0.099367 0.5354293 0.109215 0.8171014 FALSE 4.5954e-05 ENSE00002419170_030 ENSE00002419170 030 3 52507708 52507877 + 42 96 32 C T 52507863 1693 156 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATTCTGCCTGGGGCAAT 52473691 52473861 52473846 52473847 52473847 downstr_intron 18 1.580645 GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATTCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT mutant NA NA NA NA NA 4291 678 0.9871467 0.9997667 0.9934567 0.9976309 0.9976663 0.9762574 0.9815895 NA NA 0.01088929 0.0181772 0.9976486 0.9789234 NA 0.01453325 NA FALSE NA 0 0.256 . upstream_gene_variant MODIFIER NISCH HGNC 18006 ENST00000464280 1 NA TCC C,T 0.0001154 3:52473847 NISCH HGNC Symbol protein_coding 37953 ENSG00000010322 ENSE00003472034 intron_variant 0.347474 0.23439 0.07977 0.099367 0.6246673 0.0976829 0.8171014 FALSE 6.92683e-05 ENSE00002419170_BRK ENSE00002419170 BRK 3 52507708 52507877 + 42 96 32 A,G; T,T NA NA NA GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCTTATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGCCAAGCTTCACCTATATCCTGCCTGGGGCAAT 52473691 52473861 NA NA NA NA NA NA GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCTTATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGCCAAGCTTCACCTATATCCTGCCTGGGGCAAT GCAAGGATTCTGTTTCTGAGATGCAGCTGTTCTTTGTTCCAGATAAGTCACTGTGATGCTAAGCACATCAGAGGGCTGGTCGCATCGAAGCCCACCTTAGCCACGCTGAGTGTCCGCTTCTCAGCAACCTCGATGAAGGTAAGCTTCACCTATATCCTGCCTGGGGCAAT control 123 85 0 0 0 487 762 0 0 0 0.9976309 0.9976663 0.9762574 0.9815895 -0.9976309 -0.9976663 -0.9762574 -0.9815895 0.9976486 0.9789234 -0.9976486 -0.9789234 0.01872519 TRUE TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCOA4 NA NA NA NA ENSE00003472034 NA NA NA NA NA NA NA 0.008565806 FALSE NA ENSE00002419457_000 ENSE00002419457 000 17 3746333 3746502 - 47 66 57 NA NA NA NA NA ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC 3843038 3843208 NA NA NA NA NA NA ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC natural NA NA NA NA NA 2562 3091 0.8758889 0.9336458 0.9047673 NA NA 0.8758889 0.9336458 NA NA 0 0 NA 0.9047673 NA 0 NA FALSE NA NA NA NA NA NA C17orf85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NCBP3 NA NA NA ENSG00000074356 ENSE00003576029 NA NA NA NA NA NA NA NA NA NA ENSE00002419457_003 ENSE00002419457 003 17 3746333 3746502 - 47 66 57 C A 3746351 400 152 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCATCTTGATAAGCAAGTGAAC 3843038 3843208 3843056 3843057 3843057 downstr_intron 29 1.630435 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCATCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC mutant NA NA NA NA NA 174 448 0.9997632 1 0.9998816 NA NA 0.8758889 0.9336458 NA NA 0.1238744 0.06635423 NA 0.9047673 NA 0.09511431 NA FALSE NA 0.021 -0.273 . intron_variant MODIFIER C17orf85 HGNC 24612 ENST00000158149 2/13 1 NA GCT C,A 4.122e-05 17:3843057 NCBP3 HGNC Symbol protein_coding 44086 ENSG00000074356 ENSE00003576029 intron_variant 0.349262 0.12928 0.01698 0.156188 0.6684216 0.135296 NA NA 1.9881e-05 ENSE00002419457_004 ENSE00002419457 004 17 3746333 3746502 - 47 66 57 C A 3746365 401 138 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATTATTTATTTATTCAGCTTGATAAGCAAGTGAAC 3843038 3843208 3843070 3843071 3843071 downstr_intron 15 1.326087 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATTATTTATTTATTCAGCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC mutant NA NA NA NA NA 719 107 0.9859428 0.99486 0.9904014 NA NA 0.8758889 0.9336458 NA NA 0.1100539 0.06121421 NA 0.9047673 NA 0.08563406 NA FALSE NA 0.001 0.262 . intron_variant MODIFIER C17orf85 HGNC 24612 ENST00000158149 2/13 rs533618128 1 NA TCA C,A 4.146e-05 17:3843071 NCBP3 HGNC Symbol protein_coding 44086 ENSG00000074356 ENSE00003576029 intron_variant 0.30742 0.13922 0.14501 0.156188 0.4827904 0.124041 NA NA 1.98379e-05 ENSE00002419457_005 ENSE00002419457 005 17 3746333 3746502 - 47 66 57 A G 3746368 402 135 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCCATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC 3843038 3843208 3843073 3843074 3843074 downstr_intron 12 1.26087 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCCATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC mutant NA NA NA NA NA 28 1069 1 0.9997147 0.9998573 NA NA 0.8758889 0.9336458 NA NA 0.1241111 0.06606892 NA 0.9047673 NA 0.09509003 NA FALSE NA 0 -0.248 . intron_variant MODIFIER C17orf85 HGNC 24612 ENST00000158149 2/13 1 NA TAG A,G 4.149e-05 17:3843074 NCBP3 HGNC Symbol protein_coding 44086 ENSG00000074356 ENSE00003576029 intron_variant -0.060999 0.09407 0.00312 0.295142 0.6310962 0.124041 NA NA 6.61087e-06 ENSE00002419457_006 ENSE00002419457 006 17 3746333 3746502 - 47 66 57 G A 3746404 403 99 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATTACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC 3843038 3843208 3843109 3843110 3843110 exon -25 0.6363636 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATTACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC mutant NA NA NA NA NA 463 20 0.999733 1 0.9998665 NA NA 0.8758889 0.9336458 NA NA 0.1238442 0.06635423 NA 0.9047673 NA 0.0950992 NA FALSE NA 1 4.022 . 5_prime_UTR_variant MODIFIER C17orf85 HGNC 24612 ENST00000158149 2/14 1 NA TGA G,A 8.281e-05 17:3843110 NCBP3 HGNC Symbol protein_coding 44086 ENSG00000074356 ENSE00003576029 synonymous_variant 1.55533 0.97959 0.93843 0.732398 0.8222163 0 NA NA 1.98232e-05 ENSE00002419457_007 ENSE00002419457 007 17 3746333 3746502 - 47 66 57 C G 3746440 404 63 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACCAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC 3843038 3843208 3843145 3843146 3843146 exon 6 0.09090909 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACCAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC mutant NA NA NA NA NA 461 323 1 1 1 NA NA 0.8758889 0.9336458 NA NA 0.1241111 0.06635423 NA 0.9047673 NA 0.09523268 NA FALSE NA 0.999 0.244 . 5_prime_UTR_variant MODIFIER C17orf85 HGNC 24612 ENST00000158149 2/14 rs370986952 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCG C,G 0.0009495 17:3843146 NCBP3 HGNC Symbol protein_coding 44086 ENSG00000074356 ENSE00003576029 synonymous_variant 1.770855 0.93633 0.47738 0.732398 0.7182366 0 NA NA 0.000429519 ENSE00002419457_008 ENSE00002419457 008 17 3746333 3746502 - 47 66 57 G C 3746441 405 62 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACAGGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC 3843038 3843208 3843146 3843147 3843147 exon 5 0.07575758 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACAGGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC mutant NA NA NA NA NA 337 125 0.9955191 0.8 0.8977596 NA NA 0.8758889 0.9336458 NA NA 0.1196303 -0.1336458 NA 0.9047673 NA -0.00700776 NA FALSE NA 1 7.24 NA NA NA C17orf85 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:3843147 NCBP3 HGNC Symbol protein_coding 44086 ENSG00000074356 ENSE00003576029 missense_variant 3.307207 0.98048 0.97896 0.732398 0.9927824 0 NA NA 3.30452e-05 ENSE00002419457_010 ENSE00002419457 010 17 3746333 3746502 - 47 66 57 G A 3746464 407 39 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCATCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC 3843038 3843208 3843169 3843170 3843170 upstr_intron -19 -0.3157895 ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCATCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC mutant NA NA NA NA NA 169 507 0.903222 0.9987899 0.9510059 NA NA 0.8758889 0.9336458 NA NA 0.02733313 0.06514411 NA 0.9047673 NA 0.04623862 NA FALSE NA 0.083 0.915 . intron_variant MODIFIER C17orf85 HGNC 24612 ENST00000158149 1/13 rs201422898 1 NA GGT G,A 4.087e-05 17:3843170 NCBP3 HGNC Symbol protein_coding 44086 ENSG00000074356 ENSE00003576029 intron_variant 2.101087 0.78153 0.37377 0.106106 0.8723233 0.387524 NA NA 5.95963e-05 ENSE00002419457_012 ENSE00002419457 012 17 3746333 3746502 - 47 66 57 A G 3746479 409 24 ATTATAGGTTTTTCCTCAATTGCCGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC 3843038 3843208 3843184 3843185 3843185 upstr_intron -34 -0.5789474 ATTATAGGTTTTTCCTCAATTGCCGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC ATTATAGGTTTTTCCTCAATTGCTGTCTGAATTTCTCACCCTTCCCCTTTGTGTTAGGACACGAGCAGAAGATATGAAAACAAGGCTGGCAGCTTCATCACTGGAATTGATGTCACCTCCAAGGTAAGACAGGCTATGATTTATTTATTCAGCTTGATAAGCAAGTGAAC mutant NA NA NA NA NA 529 254 0.9992977 1 0.9996489 NA NA 0.8758889 0.9336458 NA NA 0.1234089 0.06635423 NA 0.9047673 NA 0.09488155 NA FALSE NA 0.001 0.662 . intron_variant MODIFIER C17orf85 HGNC 24612 ENST00000158149 1/13 1 NA CAG A,G 8.17e-05 17:3843185 NCBP3 HGNC Symbol protein_coding 44086 ENSG00000074356 ENSE00003576029 intron_variant 1.183464 0.12046 0.06846 0.106106 0.7546247 0.0515493 NA NA 0.000106906 ENSE00002419468_000 ENSE00002419468 000 3 184007184 184007353 + 41 99 30 NA NA NA NA NA GATGGCGCCCCAACCCTAGCCACCGCTCACTTTCTCCTTGGCTGCCTGGCGGGTCTTCTCATCCATCCAAACCAGCTGTCCCAGGGCCTCCTCAAATGCGGTCCGGATTTCGCTGATCATCCCCTCTGCCTGGGAGGGAGGAGGTAAAGTCAGCCTTCCCCTGCACTGAA 184289395 184289565 NA NA NA NA NA NA TTCAGTGCAGGGGAAGGCTGACTTTACCTCCTCCCTCCCAGGCAGAGGGGATGATCAGCGAAATCCGGACCGCATTTGAGGAGGCCCTGGGACAGCTGGTTTGGATGGATGAGAAGACCCGCCAGGCAGCCAAGGAGAAAGTGAGCGGTGGCTAGGGTTGGGGCGCCATC TTCAGTGCAGGGGAAGGCTGACTTTACCTCCTCCCTCCCAGGCAGAGGGGATGATCAGCGAAATCCGGACCGCATTTGAGGAGGCCCTGGGACAGCTGGTTTGGATGGATGAGAAGACCCGCCAGGCAGCCAAGGAGAAAGTGAGCGGTGGCTAGGGTTGGGGCGCCATC natural NA NA NA NA NA 427 551 0.9914052 0.993902 0.9926536 NA NA 0.9914052 0.993902 NA NA 0 0 NA 0.9926536 NA 0 NA FALSE NA NA NA NA NA NA ECE2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ECE2 NA NA NA ENSG00000145194 ENSE00003562329 NA NA NA NA NA NA NA 1.650479e-17 FALSE NA ENSE00002419468_027 ENSE00002419468 027 3 184007184 184007353 + 41 99 30 G A 184007324 3780 141 GATGGCGCCCCAACCCTAGCCACCGCTCATTTTCTCCTTGGCTGCCTGGCGGGTCTTCTCATCCATCCAAACCAGCTGTCCCAGGGCCTCCTCAAATGCGGTCCGGATTTCGCTGATCATCCCCTCTGCCTGGGAGGGAGGAGGTAAAGTCAGCCTTCCCCTGCACTGAA 184289395 184289565 184289535 184289536 184289536 downstr_intron 1 1.034483 TTCAGTGCAGGGGAAGGCTGACTTTACCTCCTCCCTCCCAGGCAGAGGGGATGATCAGCGAAATCCGGACCGCATTTGAGGAGGCCCTGGGACAGCTGGTTTGGATGGATGAGAAGACCCGCCAGGCAGCCAAGGAGAAAATGAGCGGTGGCTAGGGTTGGGGCGCCATC TTCAGTGCAGGGGAAGGCTGACTTTACCTCCTCCCTCCCAGGCAGAGGGGATGATCAGCGAAATCCGGACCGCATTTGAGGAGGCCCTGGGACAGCTGGTTTGGATGGATGAGAAGACCCGCCAGGCAGCCAAGGAGAAAGTGAGCGGTGGCTAGGGTTGGGGCGCCATC mutant NA NA NA NA NA 40 85 0.8 0.9924836 0.8962418 NA NA 0.9914052 0.993902 NA NA -0.1914052 -0.001418432 NA 0.9926536 NA -0.09641184 NA FALSE NA 1 7.853 . splice_donor_variant&non_coding_transcript_variant HIGH ECE2 HGNC 13275 ENST00000488401 11/16 1 NA AGT G,A 8.237e-06 3:184289536 ECE2 HGNC Symbol protein_coding 17020 ENSG00000145194 ENSE00003562329 splice_donor_variant 5.492336 0.97838 0.96802 0.053988 0.9954588 0.98272 1.650479e-17 FALSE 4.08938e-06 ENSE00002419468_031 ENSE00002419468 031 3 184007184 184007353 + 41 99 30 G T 184007334 3784 151 GATGGCGCCCCAACCCTAGACACCGCTCACTTTCTCCTTGGCTGCCTGGCGGGTCTTCTCATCCATCCAAACCAGCTGTCCCAGGGCCTCCTCAAATGCGGTCCGGATTTCGCTGATCATCCCCTCTGCCTGGGAGGGAGGAGGTAAAGTCAGCCTTCCCCTGCACTGAA 184289395 184289565 184289545 184289546 184289546 downstr_intron 11 1.37931 TTCAGTGCAGGGGAAGGCTGACTTTACCTCCTCCCTCCCAGGCAGAGGGGATGATCAGCGAAATCCGGACCGCATTTGAGGAGGCCCTGGGACAGCTGGTTTGGATGGATGAGAAGACCCGCCAGGCAGCCAAGGAGAAAGTGAGCGGTGTCTAGGGTTGGGGCGCCATC TTCAGTGCAGGGGAAGGCTGACTTTACCTCCTCCCTCCCAGGCAGAGGGGATGATCAGCGAAATCCGGACCGCATTTGAGGAGGCCCTGGGACAGCTGGTTTGGATGGATGAGAAGACCCGCCAGGCAGCCAAGGAGAAAGTGAGCGGTGGCTAGGGTTGGGGCGCCATC mutant NA NA NA NA NA 1749 338 0.9286518 0.9744126 0.9515322 NA NA 0.9914052 0.993902 NA NA -0.06275339 -0.01948941 NA 0.9926536 NA -0.0411214 NA FALSE NA 0 0.928 . intron_variant&non_coding_transcript_variant MODIFIER ECE2 HGNC 13275 ENST00000488401 11/16 rs576347901 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGC G,T 0.0001647 3:184289546 ECE2 HGNC Symbol protein_coding 17020 ENSG00000145194 ENSE00003562329 intron_variant 0.291999 0.47352 0.38825 0.053988 0.6491231 0.208962 1.650479e-17 FALSE 0.000151138 ENSE00002419473_000 ENSE00002419473 000 17 27425339 27425508 - 35 90 45 NA NA NA NA NA CATGCCCAGTCGGTGTGGTGCCAGGAGTCACTCACCCGGCTCTCCAGCCGGTCACTGTTGAGCCGCAGCTCGTTCCTCTCCTTCTCCGCCTTCTCGAGCTTGCTCCGCAGCTGCTGGATCTCCTCCTAGGGTGGACCAAAGAGGGCAAAGTGAGCCAAAGGCACTGCGAG 29098320 29098490 NA NA NA NA NA NA CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG natural 26 10 0.9993276 0.9978642 0.9985959 1233 1367 0.9351203 0.9987619 0.9669411 0.9993276 0.9978642 0.9351203 0.9987619 0 0 0 0 0.9985959 0.9669411 0 0 0 FALSE FALSE NA NA NA NA NA MYO18A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO18A NA NA NA ENSG00000196535 ENSE00003605406 NA NA NA NA NA NA NA 0.9994175 TRUE NA ENSE00002419473_006 ENSE00002419473 006 17 27425339 27425508 - 35 90 45 C T 27425375 1183 134 CATGCCCAGTCGGTGTGGTGCCAGGAGTCACTCACCTGGCTCTCCAGCCGGTCACTGTTGAGCCGCAGCTCGTTCCTCTCCTTCTCCGCCTTCTCGAGCTTGCTCCGCAGCTGCTGGATCTCCTCCTAGGGTGGACCAAAGAGGGCAAAGTGAGCCAAAGGCACTGCGAG 29098320 29098490 29098356 29098357 29098357 exon -2 0.9888889 CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCAGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG mutant NA NA NA NA NA 79 397 0.974457 1 0.9872285 0.9993276 0.9978642 0.9351203 0.9987619 NA NA 0.03933672 0.001238117 0.9985959 0.9669411 NA 0.02028742 NA FALSE NA 1 3.724 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW MYO18A HGNC 31104 ENST00000530254 24/41 COSM705787&COSM705786 1 NA CCG C,T 8.262e-06 17:29098357 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003605406 missense_variant 7.60759 0.981 0.95312 0.706548 0.9993601 0 0.9994175 TRUE 8.14166e-06 ENSE00002419473_007 ENSE00002419473 007 17 27425339 27425508 - 35 90 45 G A 27425376 1184 133 CATGCCCAGTCGGTGTGGTGCCAGGAGTCACTCACCCAGCTCTCCAGCCGGTCACTGTTGAGCCGCAGCTCGTTCCTCTCCTTCTCCGCCTTCTCGAGCTTGCTCCGCAGCTGCTGGATCTCCTCCTAGGGTGGACCAAAGAGGGCAAAGTGAGCCAAAGGCACTGCGAG 29098320 29098490 29098357 29098358 29098358 exon -3 0.9777778 CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCTGGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG mutant NA NA NA NA NA 523 355 0.9990519 0.9995542 0.9993031 0.9993276 0.9978642 0.9351203 0.9987619 NA NA 0.06393166 0.0007923572 0.9985959 0.9669411 NA 0.03236201 NA FALSE NA 1 2.329 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW MYO18A HGNC 31104 ENST00000530254 24/41 1 NA CGG G,A 1.652e-05 17:29098358 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003605406 missense_variant 7.185978 0.97616 0.92444 0.706548 0.9990028 0 0.9994175 TRUE 1.62792e-05 ENSE00002419473_024 ENSE00002419473 024 17 27425339 27425508 - 35 90 45 G A 27425488 1201 21 CATGCCCAGTCGGTGTGGTGCCAGGAGTCACTCACCCGGCTCTCCAGCCGGTCACTGTTGAGCCGCAGCTCGTTCCTCTCCTTCTCCGCCTTCTCGAGCTTGCTCCGCAGCTGCTGGATCTCCTCCTAGGGTGGACCAAAGAGGGCAAAATGAGCCAAAGGCACTGCGAG 29098320 29098490 29098469 29098470 29098470 upstr_intron -25 -0.5333333 CTCGCAGTGCCTTTGGCTCATTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG mutant NA NA NA NA NA 32 15 1 1 1 0.9993276 0.9978642 0.9351203 0.9987619 NA NA 0.06487975 0.001238117 0.9985959 0.9669411 NA 0.03305893 NA FALSE NA 0.867 0.816 . intron_variant&NMD_transcript_variant MODIFIER MYO18A HGNC 31104 ENST00000530254 23/40 1 NA AGT G,A 8.264e-06 17:29098470 MYO18A HGNC Symbol protein_coding 109288 ENSG00000196535 ENSE00003605406 intron_variant 1.523607 0.28703 0.45022 0.062308 0.8033514 0.16102 0.9994175 TRUE 4.07664e-06 ENSE00002419473_BRK ENSE00002419473 BRK 17 27425339 27425508 - 35 90 45 A,G; T,T NA NA NA CATGCCCAGTCGGTGTGGTGCCAGGAGTCACTCGGCCGGCTCTCCAGCCGGTCACTGTTGAGCCGCAGCTCGTTCCTCTCCTTCTCCGCCTTCTCGAGCTTGCTCCGCAGCTGCTGGATCTCCTCAAAGGGTGGACCAAAGAGGGCAAAGTGAGCCAAAGGCACTGCGAG 29098320 29098490 NA NA NA NA NA NA CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTTTGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGGCCGAGTGACTCCTGGCACCACACCGACTGGGCATG CTCGCAGTGCCTTTGGCTCACTTTGCCCTCTTTGGTCCACCCTAGGAGGAGATCCAGCAGCTGCGGAGCAAGCTCGAGAAGGCGGAGAAGGAGAGGAACGAGCTGCGGCTCAACAGTGACCGGCTGGAGAGCCGGGTGAGTGACTCCTGGCACCACACCGACTGGGCATG control NA NA NA NA NA 189 599 0 0 0 0.9993276 0.9978642 0.9351203 0.9987619 NA NA -0.9351203 -0.9987619 0.9985959 0.9669411 NA -0.9669411 NA TRUE NA NA NA NA NA NA MYO18A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA MYO18A NA NA NA ENSG00000196535 ENSE00003605406 NA NA NA NA NA NA NA 0.9994175 TRUE NA ENSE00002419482_000 ENSE00002419482 000 2 191905753 191905922 - 38 84 48 NA NA NA NA NA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 NA NA NA NA NA NA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA natural NA NA NA NA NA 2634 3720 0.9991554 0.9400211 0.9695883 NA NA 0.9991554 0.9400211 NA NA 0 0 NA 0.9695883 NA 0 NA FALSE NA NA NA NA NA NA STAT4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT4 NA NA NA ENSG00000138378 ENSE00003516088 NA NA NA NA NA NA NA 0.9888678 TRUE NA ENSE00002419482_003 ENSE00002419482 003 2 191905753 191905922 - 38 84 48 T C 191905802 3973 121 TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCGTAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 191041075 191041076 191041076 exon -12 0.8690476 TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCGTAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA mutant NA NA NA NA NA 335 47 1 1 1 NA NA 0.9991554 0.9400211 NA NA 0.0008446165 0.05997886 NA 0.9695883 NA 0.03041174 NA FALSE NA 1 3.979 . missense_variant MODERATE STAT4 HGNC 11365 ENST00000358470 15/24 1 tolerated(0.5) benign(0.089) NA ATG T,C 8.237e-06 2:191041076 STAT4 HGNC Symbol protein_coding 122020 ENSG00000138378 ENSE00003516088 missense_variant 1.69761 0.9898 0.9525 0.615465 0.9979573 0 0.9888678 TRUE NA ENSE00002419482_006 ENSE00002419482 006 2 191905753 191905922 - 38 84 48 A G 191905840 3976 83 TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCACAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 191041113 191041114 191041114 exon 35 0.4166667 TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCACAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA mutant NA NA NA NA NA 1041 1540 0.9975357 0.9979475 0.9977416 NA NA 0.9991554 0.9400211 NA NA -0.001619673 0.05792636 NA 0.9695883 NA 0.02815334 NA FALSE NA 1 9.037 . missense_variant MODERATE STAT4 HGNC 11365 ENST00000358470 15/24 1 deleterious(0.04) possibly_damaging(0.59) NA TAT A,G 8.237e-06 2:191041114 STAT4 HGNC Symbol protein_coding 122020 ENSG00000138378 ENSE00003516088 missense_variant 4.8398 0.99431 0.99371 0.615465 0.9985565 0 0.9888678 TRUE NA ENSE00002419482_007 ENSE00002419482 007 2 191905753 191905922 - 38 84 48 G A 191905842 3977 81 TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCTATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 191041115 191041116 191041116 exon 33 0.3928571 TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCTATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA mutant NA NA NA NA NA 154 107 0.9868039 1 0.993402 NA NA 0.9991554 0.9400211 NA NA -0.01235147 0.05997886 NA 0.9695883 NA 0.02381369 NA FALSE NA 1 1.643 . synonymous_variant LOW STAT4 HGNC 11365 ENST00000358470 15/24 rs201192423 1 A:0.0014 A:0 A:0 NA A:0.0069 A:0 A:0 A:0 A:0.0001 TGG G,A 0.0001977 2:191041116 STAT4 HGNC Symbol protein_coding 122020 ENSG00000138378 ENSE00003516088 synonymous_variant 1.451992 0.97447 0.8491 0.615465 0.6777709 0 0.9888678 TRUE 0.000112338 ENSE00002419482_009 ENSE00002419482 009 2 191905753 191905922 - 38 84 48 T C 191905891 3979 32 TAGTGAGTATGCATTTGTGAGGTAACAATTTGTTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 191041164 191041165 191041165 upstr_intron -17 -0.3333333 TAGTGAGTATGCATTTGTGAGGTAACAATTTGTTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA mutant NA NA NA NA NA 273 917 1 0.9987873 0.9993937 NA NA 0.9991554 0.9400211 NA NA 0.0008446165 0.05876616 NA 0.9695883 NA 0.02980539 NA FALSE NA 0 -5.632 . intron_variant MODIFIER STAT4 HGNC 11365 ENST00000358470 14/23 1 NA ATA T,C 8.238e-06 2:191041165 STAT4 HGNC Symbol protein_coding 122020 ENSG00000138378 ENSE00003516088 intron_variant -0.690759 0.10486 0.01808 0.053691 0.4678855 0.0476178 0.9888678 TRUE 6.22069e-06 ENSE00002419482_010 ENSE00002419482 010 2 191905753 191905922 - 38 84 48 A G 191905894 3980 29 TAGTGAGTATGCATTTGTGAGGTAACAACTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 191041167 191041168 191041168 upstr_intron -20 -0.3958333 TAGTGAGTATGCATTTGTGAGGTAACAACTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA mutant NA NA NA NA NA 146 550 0.9968575 1 0.9984288 NA NA 0.9991554 0.9400211 NA NA -0.002297862 0.05997886 NA 0.9695883 NA 0.0288405 NA FALSE NA 0 -0.584 . intron_variant MODIFIER STAT4 HGNC 11365 ENST00000358470 14/23 1 NA AAT A,G 8.239e-06 2:191041168 STAT4 HGNC Symbol protein_coding 122020 ENSG00000138378 ENSE00003516088 intron_variant -0.199504 0.22154 0.03059 0.053691 0.3964038 0.0476178 0.9888678 TRUE 6.2837e-06 ENSE00002419482_011 ENSE00002419482 011 2 191905753 191905922 - 38 84 48 T G 191905910 3981 13 TAGTGAGTATGCCTTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 191041183 191041184 191041184 upstr_intron -36 -0.7291667 TAGTGAGTATGCCTTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA mutant NA NA NA NA NA 492 191 0.9985693 1 0.9992846 NA NA 0.9991554 0.9400211 NA NA -0.0005860922 0.05997886 NA 0.9695883 NA 0.02969638 NA FALSE NA 0 -1.36 . intron_variant MODIFIER STAT4 HGNC 11365 ENST00000358470 14/23 rs374151633 1 NA G:0 G:0.0001 ATG T,G 8.24e-06 2:191041184 STAT4 HGNC Symbol protein_coding 122020 ENSG00000138378 ENSE00003516088 intron_variant 1.645282 0.2273 0.07287 0.053691 0.8019052 0.046875 0.9888678 TRUE 1.37278e-05 ENSE00002419482_012 ENSE00002419482 012 2 191905753 191905922 - 38 84 48 C T 191905912 3982 11 TAGTGAGTATACATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 191041185 191041186 191041186 upstr_intron -38 -0.7708333 TAGTGAGTATACATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA mutant NA NA NA NA NA 71 33 1 1 1 NA NA 0.9991554 0.9400211 NA NA 0.0008446165 0.05997886 NA 0.9695883 NA 0.03041174 NA FALSE NA 0.003 0.314 . intron_variant MODIFIER STAT4 HGNC 11365 ENST00000358470 14/23 1 NA GCA C,T 8.24e-06 2:191041186 STAT4 HGNC Symbol protein_coding 122020 ENSG00000138378 ENSE00003516088 intron_variant 1.668529 0.28561 0.05691 0.053691 0.6790372 0.046875 0.9888678 TRUE 6.95739e-06 ENSE00002419482_BRK ENSE00002419482 BRK 2 191905753 191905922 - 38 84 48 A,G; T,T NA NA NA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTTTGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGCCAGGTGTTTCAAGAACATACACTATTTACTAATGGCA 191041026 191041196 NA NA NA NA NA NA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTTTGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGCCAGGTGTTTCAAGAACATACACTATTTACTAATGGCA TAGTGAGTATGCATTTGTGAGGTAACAATTTATTTCTCTCTTCCTTAGGGCTGTCACATGGTGACTGAAGAACTTCATTCCATAACGTTTGAAACACAGATCTGCCTCTATGGCCTGACCATAGATTTGGAGGTAGGTGTTTCAAGAACATACACTATTTACTAATGGCA control NA NA NA NA NA 228 339 0.04482378 0 0.02241189 NA NA 0.9991554 0.9400211 NA NA -0.9543316 -0.9400211 NA 0.9695883 NA -0.9471764 NA TRUE NA NA NA NA NA NA STAT4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT4 NA NA NA ENSG00000138378 ENSE00003516088 NA NA NA NA NA NA NA 0.9888678 TRUE NA ENSE00002419636_000 ENSE00002419636 000 2 201480650 201480819 + 44 93 33 NA NA NA NA NA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA 200615926 200616096 NA NA NA NA NA NA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA natural NA NA NA NA NA 2488 1874 0.951773 0.987816 0.9697945 NA NA 0.951773 0.987816 NA NA 0 0 NA 0.9697945 NA 0 NA FALSE NA NA NA NA NA NA AOX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00003541386 NA NA NA NA NA NA NA 2.679367e-22 FALSE NA ENSE00002419636_006 ENSE00002419636 006 2 201480650 201480819 + 44 93 33 T C 201480711 4094 62 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCCAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA 200615926 200616096 200615987 200615988 200615988 exon 18 0.1935484 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCCAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA mutant NA NA NA NA NA 29 854 0.9985722 1 0.9992861 NA NA 0.951773 0.987816 NA NA 0.04679918 0.012184 NA 0.9697945 NA 0.02949159 NA FALSE NA 0.428 0.451 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000485106 4/22 1 NA CTA T,C 8.237e-06 2:200615988 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003541386 synonymous_variant -0.401354 0.81959 0.29878 0.638212 0.5527229 0 2.679367e-22 FALSE 1.2199e-05 ENSE00002419636_007 ENSE00002419636 007 2 201480650 201480819 + 44 93 33 C G 201480723 4095 74 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGAGAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA 200615926 200616096 200615999 200616000 200616000 exon 30 0.3225806 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGAGAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA mutant NA NA NA NA NA 315 533 0.9981565 1 0.9990782 NA NA 0.951773 0.987816 NA NA 0.04638344 0.012184 NA 0.9697945 NA 0.02928372 NA FALSE NA 0.301 1.753 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000485106 4/22 1 NA ACA C,G 8.237e-06 2:200616000 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003541386 missense_variant -0.195678 0.26297 0.06748 0.638212 0.5119661 0 2.679367e-22 FALSE 4.06593e-06 ENSE00002419636_008 ENSE00002419636 008 2 201480650 201480819 + 44 93 33 G A 201480736 4096 87 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTACTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA 200615926 200616096 200616012 200616013 200616013 exon 43 0.4623656 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTACTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA mutant NA NA NA NA NA 93 273 1 0.997292 0.998646 NA NA 0.951773 0.987816 NA NA 0.04822697 0.009476052 NA 0.9697945 NA 0.02885151 NA FALSE NA 0.997 2.439 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000485106 4/22 1 NA TGC G,A 8.237e-06 2:200616013 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003541386 missense_variant 4.406647 0.97177 0.90337 0.693126 0.9974524 0 2.679367e-22 FALSE 4.06623e-06 ENSE00002419636_009 ENSE00002419636 009 2 201480650 201480819 + 44 93 33 T C 201480739 4097 90 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTCTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA 200615926 200616096 200616015 200616016 200616016 exon 46 0.4946237 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTCTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA mutant NA NA NA NA NA 21 134 1 0.9931886 0.9965943 NA NA 0.951773 0.987816 NA NA 0.04822697 0.005372628 NA 0.9697945 NA 0.0267998 NA FALSE NA 0.049 0.116 rs114483614 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000485106 4/22 rs114483614 1 C:0.0028 C:0.0106 C:0 NA C:0 C:0 C:0 C:0.0157 C:0 TTT T,C 0.001425 2:200616016 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003541386 synonymous_variant 0.061104 0.95324 0.10921 0.693126 0.737121 0 2.679367e-22 FALSE 0.00108572 ENSE00002419636_012 ENSE00002419636 012 2 201480650 201480819 + 44 93 33 C A 201480748 4100 99 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATATTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA 200615926 200616096 200616024 200616025 200616025 exon -39 0.5913978 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATATTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA mutant NA NA NA NA NA 83 533 1 0.9997032 0.9998516 NA NA 0.951773 0.987816 NA NA 0.04822697 0.01188717 NA 0.9697945 NA 0.03005707 NA FALSE NA 0.481 1.037 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER AOX1 HGNC 553 ENST00000485106 4/22 1 NA TCT C,A 8.237e-06 2:200616025 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003541386 missense_variant 2.235675 0.26286 0.33644 0.693126 0.9823958 0 2.679367e-22 FALSE 4.06616e-06 ENSE00002419636_016 ENSE00002419636 016 2 201480650 201480819 + 44 93 33 C A 201480784 4104 135 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACAAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA 200615926 200616096 200616060 200616061 200616061 exon -3 0.9784946 GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACAAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA mutant NA NA NA NA NA 17 85 1 1 1 NA NA 0.951773 0.987816 NA NA 0.04822697 0.012184 NA 0.9697945 NA 0.03020549 NA FALSE NA 0.998 1.54 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW AOX1 HGNC 553 ENST00000485106 4/22 1 NA CCA C,A 1.648e-05 2:200616061 AOX1 HGNC Symbol protein_coding 91196 ENSG00000138356 ENSE00003541386 missense_variant 3.400833 0.93415 0.90084 0.638212 0.970634 0 2.679367e-22 FALSE 8.14021e-06 ENSE00002419636_BRK ENSE00002419636 BRK 2 201480650 201480819 + 44 93 33 A,G; T,T NA NA NA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCTTGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGCCGAGCGGTATTTCTTGTTTTTAAAAATTCACA 200615926 200616096 NA NA NA NA NA NA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCTTGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGCCGAGCGGTATTTCTTGTTTTTAAAAATTCACA GCATTCAAACTATTTAAAATATCTGCAATGGTTCTACTTTTCAGGATCCAGTTCACTATCCTAGCCTTGCAGACAAGTATGAAAGTGCTTTAGAAGATCTTCATTCCAAACATCACTGCAGTACATTAAAGTACCAGGTGAGCGGTATTTCTTGTTTTTAAAAATTCACA control NA NA NA NA NA 58 112 0 0 0 NA NA 0.951773 0.987816 NA NA -0.951773 -0.987816 NA 0.9697945 NA -0.9697945 NA TRUE NA NA NA NA NA NA AOX1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AOX1 NA NA NA ENSG00000138356 ENSE00003541386 NA NA NA NA NA NA NA 2.679367e-22 FALSE NA ENSE00002419688_000 ENSE00002419688 000 2 238258742 238258911 - 48 63 59 NA NA NA NA NA CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 NA NA NA NA NA NA GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG natural 443 766 0.8616144 0.8427613 0.8521879 240 2554 0.9044136 0.9483189 0.9263662 0.8616144 0.8427613 0.9044136 0.9483189 0 0 0 0 0.8521879 0.9263662 0 0 0 FALSE FALSE NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003568486 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002419688_001 ENSE00002419688 001 2 238258742 238258911 - 48 63 59 C T 238258756 5617 156 CAGCAAAGAGTCAGTGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350112 237350113 237350113 downstr_intron 34 1.723404 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCACTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 12 206 0.8133454 0.8980927 0.8557191 0.8616144 0.8427613 0.9044136 0.9483189 NA NA -0.0910682 -0.05022615 0.8521879 0.9263662 NA -0.07064717 NA FALSE NA 0 -0.443 rs113689232 intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 27/42 rs113689232 1 NA T:0.0002 T:0.0003 GCG C,T 0.0002883 2:237350113 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 intron_variant 0.191905 0.19139 0.01597 0.053691 0.6981139 0.046323 7.793308e-11 FALSE 0.000288648 ENSE00002419688_002 ENSE00002419688 002 2 238258742 238258911 - 48 63 59 G A 238258757 5618 155 CAGCAAAGAGTCAGCAACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350113 237350114 237350114 downstr_intron 33 1.702128 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTTGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 3751 3351 0.9183884 0.944678 0.9315332 0.8616144 0.8427613 0.9044136 0.9483189 NA NA 0.01397487 -0.003640861 0.8521879 0.9263662 NA 0.005167003 NA FALSE NA 0 -0.067 rs78071799 intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 27/42 rs78071799 1 A:0.0212 A:0 A:0 NA A:0.1002 A:0 A:0.0051 A:0.0007 A:0.0002 CGA G,A 0.007858 2:237350114 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 intron_variant -0.282963 0.15223 0.02669 0.053691 0.6500516 0.046323 7.793308e-11 FALSE 0.00809159 ENSE00002419688_003 ENSE00002419688 003 2 238258742 238258911 - 48 63 59 G A 238258761 5619 151 CAGCAAAGAGTCAGCGACAACCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350117 237350118 237350118 downstr_intron 29 1.617021 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGTTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 195 310 0.95 0.9575575 0.9537788 0.8616144 0.8427613 0.9044136 0.9483189 NA NA 0.04558642 0.009238646 0.8521879 0.9263662 NA 0.02741254 NA FALSE NA 0 -0.345 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 27/42 rs547571621 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGC G,A 0.0006589 2:237350118 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 intron_variant -0.153163 0.16405 0.01853 0.053691 0.6763906 0.046323 7.793308e-11 FALSE 0.000609479 ENSE00002419688_008 ENSE00002419688 008 2 238258742 238258911 - 48 63 59 C A 238258776 5624 136 CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGAGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350132 237350133 237350133 downstr_intron 14 1.297872 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCTCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 348 79 0.8007494 0.8018285 0.801289 0.8616144 0.8427613 0.9044136 0.9483189 NA NA -0.1036641 -0.1464904 0.8521879 0.9263662 NA -0.1250773 NA FALSE NA 0 -0.868 NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237350133 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 intron_variant 0.128232 0.2115 0.02989 0.053691 0.447164 0.046323 7.793308e-11 FALSE 1.62477e-05 ENSE00002419688_011 ENSE00002419688 011 2 238258742 238258911 - 48 63 59 T C 238258792 5627 120 CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGCCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350148 237350149 237350149 exon -3 0.968254 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGGCGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 426 2249 0 0.003249168 0.001624584 0.8616144 0.8427613 0.9044136 0.9483189 NA NA -0.9044136 -0.9450697 0.8521879 0.9263662 NA -0.9247416 NA TRUE NA 1 3.362 . missense_variant&splice_region_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 27/43 rs539742606 1 possibly_damaging(0.636) C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTC T,C 8.236e-06 2:237350149 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 missense_variant 1.886382 0.98027 0.92463 0.615465 0.8943572 0 7.793308e-11 FALSE 4.06147e-06 ENSE00002419688_014 ENSE00002419688 014 2 238258742 238258911 - 48 63 59 C T 238258809 5630 103 CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCTGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350165 237350166 237350166 exon -20 0.6984127 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCAGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 117 130 0.9595324 0.9605564 0.9600444 0.8616144 0.8427613 0.9044136 0.9483189 NA NA 0.0551188 0.01223751 0.8521879 0.9263662 NA 0.03367815 NA FALSE NA 0 0.222 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 27/43 1 possibly_damaging(0.469) NA CCG C,T 8.236e-06 2:237350166 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 missense_variant 2.010836 0.27607 0.07412 0.615465 0.7914171 0 7.793308e-11 FALSE 8.12269e-06 ENSE00002419688_016 ENSE00002419688 016 2 238258742 238258911 - 48 63 59 C G 238258814 5632 98 CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTGCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350170 237350171 237350171 exon -25 0.6190476 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGCAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 31 73 0.8752651 0.9077551 0.8915101 0.8616144 0.8427613 0.9044136 0.9483189 NA NA -0.02914846 -0.04056382 0.8521879 0.9263662 NA -0.03485614 NA FALSE NA 0.943 0.156 rs3790993 synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 27/43 rs3790993&COL6A3:c.6855G>C 1 C:0.4457 G:0.5862&G:0.5862 G:0.4683&G:0.4683 NA G:0.6746&G:0.6746 G:0.5278&G:0.5278 G:0.4755&G:0.4755 G:0.5772&G:0.5772 G:0.5495&G:0.5495 TCC C,G 0.549 2:237350171 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 synonymous_variant 0.046618 0.23052 0.46871 0.615465 0.1829649 0 7.793308e-11 FALSE 0.542393 ENSE00002419688_018 ENSE00002419688 018 2 238258742 238258911 - 48 63 59 T C 238258829 5634 83 CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTCGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350185 237350186 237350186 exon 24 0.3809524 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCGAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 95 496 0.9586775 0.9834875 0.9710825 0.8616144 0.8427613 0.9044136 0.9483189 NA NA 0.05426394 0.03516866 0.8521879 0.9263662 NA 0.0447163 NA FALSE NA 0 -1.945 rs149069735 synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 27/43 rs149069735 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 TTG T,C 2.471e-05 2:237350186 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 synonymous_variant -0.28957 0.09806 0.03506 0.615465 0.3970965 0 7.793308e-11 FALSE 2.03067e-05 ENSE00002419688_020 ENSE00002419688 020 2 238258742 238258911 - 48 63 59 G T 238258831 5636 81 CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGTTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350187 237350188 237350188 exon 22 0.3492063 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGAACAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 134 10 0.8 0.8 0.8 0.8616144 0.8427613 0.9044136 0.9483189 NA NA -0.1044136 -0.1483189 0.8521879 0.9263662 NA -0.1263662 NA FALSE NA 1 3.108 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 27/43 1 probably_damaging(0.994) NA GGT G,T 8.236e-06 2:237350188 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 missense_variant 1.012016 0.98378 0.95578 0.615465 0.7045593 0 7.793308e-11 FALSE 4.06147e-06 ENSE00002419688_021 ENSE00002419688 021 2 238258742 238258911 - 48 63 59 T C 238258832 5637 80 CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGCCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 237350188 237350189 237350189 exon 21 0.3333333 GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGGCCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 85 206 0 0.02096965 0.01048483 0.8616144 0.8427613 0.9044136 0.9483189 NA NA -0.9044136 -0.9273492 0.8521879 0.9263662 NA -0.9158814 NA TRUE NA 1 0.724 . synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 27/43 1 NA GTC T,C 8.236e-06 2:237350189 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 synonymous_variant -0.242295 0.96947 0.84828 0.615465 0.465668 0 7.793308e-11 FALSE 4.06131e-06 ENSE00002419688_028 ENSE00002419688 028 2 238258742 238258911 - 48 63 59 G T 238258891 5644 21 CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTACCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCCTAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGTGCTGGCTTACAGTGTGATGC 237350098 237350268 237350247 237350248 237350248 upstr_intron -39 -0.6440678 GCATCACACTGTAAGCCAGCACCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG mutant NA NA NA NA NA 442 35 0.95 0.9146939 0.932347 0.8616144 0.8427613 0.9044136 0.9483189 NA NA 0.04558642 -0.03362496 0.8521879 0.9263662 NA 0.005980732 NA FALSE NA 0 -0.063 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 26/42 1 NA GGG G,T 8.237e-06 2:237350248 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003568486 intron_variant -0.057602 0.18231 0.04997 0.06567 0.6325645 0.0474959 7.793308e-11 FALSE 8.18478e-06 ENSE00002419688_BRK ENSE00002419688 BRK 2 238258742 238258911 - 48 63 59 A,G; T,T NA NA NA CAGCAAAGAGTCAGCGACAGCCTGACCCCAAGCGCGCTGTGACCTTGGCGTCTCCCCACGAGGGCCCCGGTTCCCGATTCCTCCTTTTGGTCCTGGCTCTCCGGGCTCACCAAAGACATGAGAAACATGGCTGAGACCCTGTGGCCTGGGGCTGGCTTACAGTGTGATGC 237350098 237350268 NA NA NA NA NA NA GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTTTGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGCCAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG GCATCACACTGTAAGCCAGCCCCAGGCCACAGGGTCTCAGCCATGTTTCTCATGTCTAGGGTGAGCCCGGAGAGCCAGGACCAAAAGGAGGAATCGGGAACCGGGGCCCTCGTGGGGAGACGGTAAGGTCACAGCGCGCTTGGGGTCAGGCTGTCGCTGACTCTTTGCTG control NA NA NA NA NA 1513 57 0.001915398 0 0.0009576991 0.8616144 0.8427613 0.9044136 0.9483189 NA NA -0.9024982 -0.9483189 0.8521879 0.9263662 NA -0.9254085 NA TRUE NA NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003568486 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002419784_000 ENSE00002419784 000 3 131306298 131306467 - 30 99 41 NA NA NA NA NA ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 NA NA NA NA NA NA ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT natural NA NA NA NA NA 57 194 1 0.9876828 0.9938414 NA NA 1 0.9876828 NA NA 0 0 NA 0.9938414 NA 0 NA FALSE NA NA NA NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003590626 NA NA NA NA NA NA NA 0.7751393 FALSE NA ENSE00002419784_003 ENSE00002419784 003 3 131306298 131306467 - 30 99 41 A G 131306319 2937 149 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGCCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587474 131587475 131587475 downstr_intron 9 1.310345 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGCCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 170 20 1 0.9920088 0.9960044 NA NA 1 0.9876828 NA NA 0 0.004325994 NA 0.9938414 NA 0.002162997 NA FALSE NA 0 -2.194 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 9/16 1 NA GAC A,G 8.237e-06 3:131587475 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 intron_variant -0.166837 0.08925 0.00752 0.061011 0.4846349 0.0443366 0.7751393 FALSE 4.07163e-06 ENSE00002419784_004 ENSE00002419784 004 3 131306298 131306467 - 30 99 41 T C 131306333 2938 135 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGGAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587488 131587489 131587489 exon -6 0.9494949 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGGAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 340 115 0.9931353 0.9986223 0.9958788 NA NA 1 0.9876828 NA NA -0.006864662 0.01093944 NA 0.9938414 NA 0.002037389 NA FALSE NA 0.994 2.793 rs188254177 missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 9/17 rs188254177 1 tolerated(0.99) benign(0.107) C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 TTC T,C 8.236e-06 3:131587489 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 missense_variant 1.55431 0.99169 0.91178 0.638212 0.8335241 0 0.7751393 FALSE 4.06504e-06 ENSE00002419784_006 ENSE00002419784 006 3 131306298 131306467 - 30 99 41 A T 131306341 2940 127 AGGCAAAACCAAAAGTGGTTGACCATGTACCTGTTTCCCTTCCTTTGCTCCTCTCATCTCCTTGAATGTCGAGGTGAATTCTCCAATGAAGTCATGCTTGCCATTGGAGTCCCAGTCCCATACTATGCACTGTAAGAGAAAACAATGATCTTTCTTAAAAAATTAAGAAT 131587453 131587623 131587496 131587497 131587497 exon -14 0.8686869 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAAAGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 156 301 0.9920895 0.9994742 0.9957819 NA NA 1 0.9876828 NA NA -0.007910473 0.01179139 NA 0.9938414 NA 0.001940459 NA FALSE NA 1 4.347 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 9/17 1 tolerated(0.94) benign(0.037) NA CAT A,T 8.236e-06 3:131587497 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 missense_variant 1.936984 0.98461 0.8448 0.638212 0.7190253 0 0.7751393 FALSE 1.21944e-05 ENSE00002419784_007 ENSE00002419784 007 3 131306298 131306467 - 30 99 41 G T 131306344 2941 124 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGAAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587499 131587500 131587500 exon -17 0.8383838 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGAAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 125 203 0.9859371 0.9750516 0.9804943 NA NA 1 0.9876828 NA NA -0.0140629 -0.01263123 NA 0.9938414 NA -0.01334706 NA FALSE NA 1 3.936 rs184384980 missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 9/17 rs184384980&COSM1536412 1 deleterious(0.03) benign(0.027) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TGC G,T 1.647e-05 3:131587500 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 missense_variant 3.190016 0.98419 0.87669 0.638212 0.9723956 0 0.7751393 FALSE 2.8456e-05 ENSE00002419784_008 ENSE00002419784 008 3 131306298 131306467 - 30 99 41 T C 131306346 2942 122 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGGGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587501 131587502 131587502 exon -19 0.8181818 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGGGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 236 425 1 1 1 NA NA 1 0.9876828 NA NA 0 0.01231718 NA 0.9938414 NA 0.006158589 NA FALSE NA 1 0.398 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:131587502 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 synonymous_variant 0.072181 0.97491 0.76842 0.638212 0.7421516 0 0.7751393 FALSE 4.06451e-06 ENSE00002419784_009 ENSE00002419784 009 3 131306298 131306467 - 30 99 41 T A 131306346 2943 122 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGTGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587501 131587502 131587502 exon -19 0.8181818 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGTGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 761 781 1 0.9910991 0.9955495 NA NA 1 0.9876828 NA NA 0 0.003416253 NA 0.9938414 NA 0.001708126 NA FALSE NA 1 0.398 NA NA NA CPNE4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CPNE4 NA NA NA ENSG00000196353 ENSE00003590626 synonymous_variant 0.812665 0.97475 0.77044 0.638212 0.7097863 0 0.7751393 FALSE 4.06451e-06 ENSE00002419784_011 ENSE00002419784 011 3 131306298 131306467 - 30 99 41 C T 131306367 2945 101 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCAACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587522 131587523 131587523 exon -40 0.6060606 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCAACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 357 89 0.9991903 1 0.9995951 NA NA 1 0.9876828 NA NA -0.0008097357 0.01231718 NA 0.9938414 NA 0.005753721 NA FALSE NA 0 -4.464 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 9/17 rs574572085 1 T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 TCG C,T 0.0003459 3:131587523 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 synonymous_variant 2.120478 0.08804 0.00808 0.638212 0.5043376 0 0.7751393 FALSE 0.000268293 ENSE00002419784_013 ENSE00002419784 013 3 131306298 131306467 - 30 99 41 G A 131306397 2947 71 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGTAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587552 131587553 131587553 exon 30 0.3030303 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGTAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 40 97 1 1 1 NA NA 1 0.9876828 NA NA 0 0.01231718 NA 0.9938414 NA 0.006158589 NA FALSE NA 0.998 0.456 . synonymous_variant LOW CPNE4 HGNC 2317 ENST00000502818 9/17 1 NA TGC G,A 8.236e-06 3:131587553 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 synonymous_variant 1.060013 0.97524 0.7239 0.638212 0.6930899 0 0.7751393 FALSE 4.0665e-06 ENSE00002419784_016 ENSE00002419784 016 3 131306298 131306467 - 30 99 41 T C 131306421 2950 47 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATGGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587576 131587577 131587577 exon 6 0.06060606 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATGGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 13 207 1 1 1 NA NA 1 0.9876828 NA NA 0 0.01231718 NA 0.9938414 NA 0.006158589 NA FALSE NA 0.993 -0.065 . missense_variant MODERATE CPNE4 HGNC 2317 ENST00000502818 9/17 1 tolerated(0.24) possibly_damaging(0.465) NA CTA T,C 8.237e-06 3:131587577 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 missense_variant 2.171984 0.95162 0.6703 0.553676 0.946534 0 0.7751393 FALSE 8.1939e-06 ENSE00002419784_018 ENSE00002419784 018 3 131306298 131306467 - 30 99 41 A G 131306432 2952 36 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCCTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587587 131587588 131587588 upstr_intron -6 -0.1219512 ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCCTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 530 303 1 0.9998743 0.9999372 NA NA 1 0.9876828 NA NA 0 0.01219148 NA 0.9938414 NA 0.006095739 NA FALSE NA 0.998 2.133 . splice_region_variant&intron_variant LOW CPNE4 HGNC 2317 ENST00000502818 8/16 1 NA AAG A,G 2.471e-05 3:131587588 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 splice_region_variant 1.296855 0.97696 0.82459 0.061011 0.8582812 0.517274 0.7751393 FALSE 4.12194e-05 ENSE00002419784_021 ENSE00002419784 021 3 131306298 131306467 - 30 99 41 A T 131306445 2955 23 AGGCAAAACCAAAAGTGGTTGACCATGTACCTGTTTCCCTTCCATTGCTCCTCTCATCTCCTTGAATGTCGAGGTGAATTCTCCAATGAAGTCATGCTTGCCATTGGAGTCCCAGTCCCATACTATGCACTGTAAGAGAAAACAATGTTCTTTCTTAAAAAATTAAGAAT 131587453 131587623 131587600 131587601 131587601 upstr_intron -19 -0.4390244 ATTCTTAATTTTTTAAGAAAGAACATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 289 119 1 1 1 NA NA 1 0.9876828 NA NA 0 0.01231718 NA 0.9938414 NA 0.006158589 NA FALSE NA 0 -0.016 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 8/16 1 NA GAT A,T 2.472e-05 3:131587601 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 intron_variant -0.091935 0.24133 0.02607 0.061011 0.6237974 0.0672918 0.7751393 FALSE 1.65985e-05 ENSE00002419784_022 ENSE00002419784 022 3 131306298 131306467 - 30 99 41 T C 131306450 2956 18 ATTCTTAATTTTTTAAGGAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587605 131587606 131587606 upstr_intron -24 -0.5609756 ATTCTTAATTTTTTAAGGAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 20 122 1 1 1 NA NA 1 0.9876828 NA NA 0 0.01231718 NA 0.9938414 NA 0.006158589 NA FALSE NA 0.094 1.588 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 8/16 1 NA TTC T,C 2.472e-05 3:131587606 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 intron_variant 0.367462 0.18987 0.03843 0.061011 0.7498078 0.0672918 0.7751393 FALSE 8.34042e-06 ENSE00002419784_023 ENSE00002419784 023 3 131306298 131306467 - 30 99 41 A G 131306454 2957 14 ATTCTTAATTTTTCAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT 131587453 131587623 131587609 131587610 131587610 upstr_intron -28 -0.6585366 ATTCTTAATTTTTCAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT ATTCTTAATTTTTTAAGAAAGATCATTGTTTTCTCTTACAGTGCATAGTATGGGACTGGGACTCCAATGGCAAGCATGACTTCATTGGAGAATTCACCTCGACATTCAAGGAGATGAGAGGAGCAATGGAAGGGAAACAGGTACATGGTCAACCACTTTTGGTTTTGCCT mutant NA NA NA NA NA 223 84 1 1 1 NA NA 1 0.9876828 NA NA 0 0.01231718 NA 0.9938414 NA 0.006158589 NA FALSE NA 0 -0.938 . intron_variant MODIFIER CPNE4 HGNC 2317 ENST00000502818 8/16 1 NA TAA A,G 1.648e-05 3:131587610 CPNE4 HGNC Symbol protein_coding 751855 ENSG00000196353 ENSE00003590626 intron_variant 0.578111 0.17512 0.02134 0.061011 0.8430543 0.0682314 0.7751393 FALSE 1.25253e-05 ENSE00002420931_000 ENSE00002420931 000 1 205895631 205895800 - 32 96 42 NA NA NA NA NA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 NA NA NA NA NA NA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA natural 960 1355 0.8442692 0.8426344 0.8434518 994 2326 0.9375184 0.7683676 0.852943 0.8442692 0.8426344 0.9375184 0.7683676 0 0 0 0 0.8434518 0.852943 0 0 0 FALSE FALSE NA NA NA NA NA SLC26A9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC26A9 NA NA NA ENSG00000174502 ENSE00003487120 NA NA NA NA NA NA NA 0.002985459 FALSE NA ENSE00002420931_001 ENSE00002420931 001 1 205895631 205895800 - 32 96 42 G T 205895647 4872 154 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGACTCTGGGTACTGGCCA 205926502 205926672 205926518 205926519 205926519 downstr_intron 16 1.516129 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGACTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant NA NA NA NA NA 17 161 1 0.9804715 0.9902358 0.8442692 0.8426344 0.9375184 0.7683676 NA NA 0.06248165 0.2121039 0.8434518 0.852943 NA 0.1372928 NA FALSE NA 0.058 1.18 . intron_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/12 1 NA GGC G,T 8.236e-06 1:205926519 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 intron_variant 0.036445 0.29171 0.20694 0.06567 0.6501782 0.0532412 0.002985459 FALSE 4.06514e-06 ENSE00002420931_002 ENSE00002420931 002 1 205895631 205895800 - 32 96 42 C T 205895653 4873 148 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCAGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926524 205926525 205926525 downstr_intron 10 1.322581 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCAGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 106 167 0.85 0.8040151 0.8270076 16 216 0.6887616 0.8011695 0.7449656 0.8442692 0.8426344 0.9375184 0.7683676 0.005730838 -0.03861927 -0.2487568 0.03280188 0.8434518 0.852943 -0.01644422 -0.1079774 0.09153322 FALSE FALSE 0 -0.255 . intron_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/12 rs375037322 1 NA T:0.0002 T:0 CCG C,T 1.647e-05 1:205926525 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 intron_variant -0.06774 0.13876 0.00211 0.06567 0.5737591 0.0532412 0.002985459 FALSE 1.62579e-05 ENSE00002420931_003 ENSE00002420931 003 1 205895631 205895800 - 32 96 42 A T 205895657 4874 144 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGAATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926528 205926529 205926529 downstr_intron 6 1.193548 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGAATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 86 269 0 0 0 NA NA NA NA NA 0.8442692 0.8426344 0.9375184 0.7683676 -0.8442692 -0.8426344 NA NA 0.8434518 0.852943 -0.8434518 NA NA NA TRUE 1 4.506 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SLC26A9 HGNC 14469 ENST00000491127 4/12 1 NA TAC A,T 1.647e-05 1:205926529 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 splice_region_variant 0.436817 0.98091 0.95467 0.06567 0.8453304 0.95194 0.002985459 FALSE 1.21852e-05 ENSE00002420931_004 ENSE00002420931 004 1 205895631 205895800 - 32 96 42 T C 205895694 4875 107 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTGCTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926565 205926566 205926566 exon -32 0.6770833 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTGCTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 14 23 0.85 0.85 0.85 NA NA NA NA NA 0.8442692 0.8426344 0.9375184 0.7683676 0.005730838 0.007365625 NA NA 0.8434518 0.852943 0.006548232 NA NA NA FALSE 1 1.26 rs139483159 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/13 rs139483159 1 NA C:0.0007 C:0 GTA T,C 1.647e-05 1:205926566 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 missense_variant 3.979039 0.968 0.90397 0.497415 0.9974497 0 0.002985459 FALSE 4.06068e-06 ENSE00002420931_005 ENSE00002420931 005 1 205895631 205895800 - 32 96 42 A C 205895695 4876 106 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCGACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926566 205926567 205926567 exon -33 0.6666667 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCGACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 20 39 0.9240125 0.85 0.8870062 NA NA NA NA NA 0.8442692 0.8426344 0.9375184 0.7683676 0.07974331 0.007365625 NA NA 0.8434518 0.852943 0.04355447 NA NA NA FALSE 1 4.726 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/13 1 NA TAG A,C 8.236e-06 1:205926567 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 missense_variant 4.450991 0.98144 0.97505 0.497415 0.9923106 0 0.002985459 FALSE 4.06068e-06 ENSE00002420931_006 ENSE00002420931 006 1 205895631 205895800 - 32 96 42 G A 205895702 4877 99 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACTGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926573 205926574 205926574 exon -40 0.59375 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACTGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant NA NA NA NA NA 170 251 0.8418212 0.8025855 0.8222033 0.8442692 0.8426344 0.9375184 0.7683676 NA NA -0.09569717 0.03421785 0.8434518 0.852943 NA -0.03073966 NA FALSE NA 0.066 -0.527 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/13 1 NA CGG G,A 8.236e-06 1:205926574 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 synonymous_variant 1.303183 0.17643 0.00985 0.497415 0.5831727 0 0.002985459 FALSE 8.12176e-06 ENSE00002420931_007 ENSE00002420931 007 1 205895631 205895800 - 32 96 42 G T 205895703 4878 98 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCAACGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926574 205926575 205926575 exon -41 0.5833333 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCAACGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 20 81 0.85 0.85 0.85 34 12 0.9872316 0.9604044 0.973818 0.8442692 0.8426344 0.9375184 0.7683676 0.005730838 0.007365625 0.04971329 0.1920368 0.8434518 0.852943 0.006548232 0.120875 0.1143268 FALSE FALSE 0.763 4.902 rs147438126 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/13 rs147438126 1 T:0.0012 T:0 T:0.0086 NA T:0 T:0 T:0 T:0 T:0.0001 GGT G,T 6.589e-05 1:205926575 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 missense_variant 1.833145 0.61256 0.9207 0.497415 0.9811704 0 0.002985459 FALSE 5.2791e-05 ENSE00002420931_008 ENSE00002420931 008 1 205895631 205895800 - 32 96 42 T C 205895708 4879 93 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAGCTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926579 205926580 205926580 exon -46 0.53125 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAGCTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 49 65 0.85 0.85 0.85 NA NA NA NA NA 0.8442692 0.8426344 0.9375184 0.7683676 0.005730838 0.007365625 NA NA 0.8434518 0.852943 0.006548232 NA NA NA FALSE 0.998 0.542 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/13 1 NA GTT T,C 8.236e-06 1:205926580 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 synonymous_variant 0.090507 0.95767 0.1981 0.497415 0.5203244 0 0.002985459 FALSE 8.12176e-06 ENSE00002420931_012 ENSE00002420931 012 1 205895631 205895800 - 32 96 42 G A 205895738 4883 63 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATTGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926609 205926610 205926610 exon 21 0.21875 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATTGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 154 90 0.8464325 0.85 0.8482163 1099 113 0.9483191 0.8387162 0.8935176 0.8442692 0.8426344 0.9375184 0.7683676 0.002163357 0.007365625 0.01080073 0.07034854 0.8434518 0.852943 0.004764491 0.04057463 0.03581014 FALSE FALSE 0.001 -1.831 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/13 1 NA CGA G,A 1.647e-05 1:205926610 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 synonymous_variant 1.842008 0.69117 0.03378 0.497415 0.7957341 0 0.002985459 FALSE 2.03057e-05 ENSE00002420931_013 ENSE00002420931 013 1 205895631 205895800 - 32 96 42 G A 205895743 4884 58 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCTTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926614 205926615 205926615 exon 16 0.1666667 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCTTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 20 14 0.85 0.85 0.85 NA NA NA NA NA 0.8442692 0.8426344 0.9375184 0.7683676 0.005730838 0.007365625 NA NA 0.8434518 0.852943 0.006548232 NA NA NA FALSE 0.928 1.553 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/13 1 NA AGG G,A 2.471e-05 1:205926615 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 synonymous_variant 0.945094 0.96672 0.8015 0.497415 0.7435054 0 0.002985459 FALSE 2.03061e-05 ENSE00002420931_014 ENSE00002420931 014 1 205895631 205895800 - 32 96 42 C T 205895755 4885 46 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTATGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926626 205926627 205926627 exon 4 0.04166667 GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTATGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 125 125 0.8094994 0.6724829 0.7409911 NA NA NA NA NA 0.8442692 0.8426344 0.9375184 0.7683676 -0.0347698 -0.1701515 NA NA 0.8434518 0.852943 -0.1024606 NA NA NA FALSE 1 7.144 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC26A9 HGNC 14469 ENST00000491127 4/13 1 NA ACA C,T 8.236e-06 1:205926627 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 missense_variant 6.65324 0.99017 0.98499 0.497415 0.9989005 0 0.002985459 FALSE 4.06161e-06 ENSE00002420931_016 ENSE00002420931 016 1 205895631 205895800 - 32 96 42 G C 205895777 4887 24 GGGGAGACCCTGGGGTCCTGGAGGAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA 205926502 205926672 205926648 205926649 205926649 upstr_intron -19 -0.4285714 GGGGAGACCCTGGGGTCCTGGAGGAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA GGGGAGACCCTGGGGTCCTGGAGCAATGTTCTGCTTCTCTAGTCTGTGCTAGGAGCCCTGATCGCTGTCAATCTCAAGAACTCCCTCAAGCAACTCACCGACCCCTACTACCTGTGGAGGAAGAGCAAGCTGGACTGTGTAAGTATCGGGCAGCCTCTGGGTACTGGCCA mutant 59 29 0.85 0.85 0.85 NA NA NA NA NA 0.8442692 0.8426344 0.9375184 0.7683676 0.005730838 0.007365625 NA NA 0.8434518 0.852943 0.006548232 NA NA NA FALSE 0.026 2.043 NA NA NA SLC26A9 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:205926649 SLC26A9 HGNC Symbol protein_coding 30412 ENSG00000174502 ENSE00003487120 intron_variant -0.131026 0.27171 0.07351 0.06567 0.6145389 0.046875 0.002985459 FALSE 2.84557e-05 ENSE00002421162_000 ENSE00002421162 000 17 40497547 40497716 - 30 99 41 NA NA NA NA NA GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 NA NA NA NA NA NA GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT natural 89 53 0.997795 0.9872684 0.9925317 3018 1966 0.9962213 0.9736677 0.9849445 0.997795 0.9872684 0.9962213 0.9736677 0 0 0 0 0.9925317 0.9849445 0 0 0 FALSE FALSE NA NA NA NA NA STAT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT3 NA NA NA ENSG00000168610 ENSE00003631188 NA NA NA NA NA NA NA 0.9999892 TRUE NA ENSE00002421162_002 ENSE00002421162 002 17 40497547 40497716 - 30 99 41 G C 40497570 1880 147 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGAGCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345551 42345552 42345552 downstr_intron 7 1.241379 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGAGCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 163 217 1 1 1 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.003778684 0.02633234 0.9925317 0.9849445 NA 0.01505551 NA FALSE NA 0.003 0.1 . splice_region_variant&intron_variant LOW STAT3 HGNC 11364 ENST00000588969 4/23 1 NA GGT G,C 8.244e-06 17:42345552 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 splice_region_variant 1.181901 0.25401 0.06821 0.295142 0.657994 0.289119 0.9999892 TRUE 4.48398e-06 ENSE00002421162_003 ENSE00002421162 003 17 40497547 40497716 - 30 99 41 G A 40497584 1881 133 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGTGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345565 42345566 42345566 exon -8 0.9292929 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGTGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 212 666 0.7853364 0.9394703 0.8624033 0.997795 0.9872684 0.9962213 0.9736677 NA NA -0.2108849 -0.03419739 0.9925317 0.9849445 NA -0.1225412 NA FALSE NA 1 7.244 . missense_variant MODERATE STAT3 HGNC 11364 ENST00000588969 4/24 1 tolerated(0.45) benign(0.009) NA CGC G,A 1.649e-05 17:42345566 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 missense_variant 3.476324 0.9876 0.9887 0.706548 0.9895765 0 0.9999892 TRUE NA ENSE00002421162_004 ENSE00002421162 004 17 40497547 40497716 - 30 99 41 A T 40497586 1882 131 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACAGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345567 42345568 42345568 exon -10 0.9090909 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACAGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 254 872 1 1 1 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.003778684 0.02633234 0.9925317 0.9849445 NA 0.01505551 NA FALSE NA 0.013 -1.103 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 4/24 1 NA CAG A,T 8.245e-06 17:42345568 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 synonymous_variant 0.548955 0.70913 0.13622 0.706548 0.6525234 0 0.9999892 TRUE NA ENSE00002421162_005 ENSE00002421162 005 17 40497547 40497716 - 30 99 41 T A 40497597 1883 120 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGTCTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345578 42345579 42345579 exon -21 0.7979798 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGTCTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 2229 681 0.9991104 1 0.9995552 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.002889087 0.02633234 0.9925317 0.9849445 NA 0.01461071 NA FALSE NA 1 7.399 . missense_variant MODERATE STAT3 HGNC 11364 ENST00000588969 4/24 1 tolerated(1) benign(0.026) NA GTC T,A 8.241e-06 17:42345579 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 missense_variant 1.452115 0.99274 0.99353 0.706548 0.9926123 0 0.9999892 TRUE 4.28666e-06 ENSE00002421162_006 ENSE00002421162 006 17 40497547 40497716 - 30 99 41 T C 40497601 1884 116 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTGCAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345582 42345583 42345583 exon -25 0.7575758 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTGCAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 220 1069 1 0.9975051 0.9987526 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.003778684 0.02383745 0.9925317 0.9849445 NA 0.01380807 NA FALSE NA 0.991 0.223 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 4/24 rs200960081 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GTA T,C 2.472e-05 17:42345583 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 synonymous_variant 0.35937 0.94669 0.67366 0.706548 0.6317872 0 0.9999892 TRUE 2.13369e-05 ENSE00002421162_007 ENSE00002421162 007 17 40497547 40497716 - 30 99 41 T C 40497616 1885 101 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAGGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345597 42345598 42345598 exon -40 0.6060606 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAGGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 235 186 1 1 1 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.003778684 0.02633234 0.9925317 0.9849445 NA 0.01505551 NA FALSE NA 1 1.022 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 4/24 1 NA CTT T,C 1.648e-05 17:42345598 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 synonymous_variant 0.189611 0.97008 0.83001 0.706548 0.6404656 0 0.9999892 TRUE NA ENSE00002421162_008 ENSE00002421162 008 17 40497547 40497716 - 30 99 41 C T 40497629 1886 88 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCAGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345610 42345611 42345611 exon 47 0.4747475 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCAGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 1201 251 0.998413 0.9992169 0.998815 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.002191701 0.02554923 0.9925317 0.9849445 NA 0.01387047 NA FALSE NA 1 7.197 . missense_variant MODERATE STAT3 HGNC 11364 ENST00000588969 4/24 1 tolerated(0.61) benign(0.15) NA CCG C,T 8.239e-06 17:42345611 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 missense_variant 4.674277 0.99274 0.99004 0.706548 0.9995825 0 0.9999892 TRUE NA ENSE00002421162_009 ENSE00002421162 009 17 40497547 40497716 - 30 99 41 C G 40497640 1887 77 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGCATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345621 42345622 42345622 exon 36 0.3636364 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGCATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 674 586 1 1 1 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.003778684 0.02633234 0.9925317 0.9849445 NA 0.01505551 NA FALSE NA 0.536 -0.261 NA NA NA STAT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:42345622 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 synonymous_variant 1.527885 0.85895 0.38113 0.706548 0.6819265 0 0.9999892 TRUE 4.63814e-05 ENSE00002421162_011 ENSE00002421162 011 17 40497547 40497716 - 30 99 41 A G 40497646 1889 71 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATCGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345627 42345628 42345628 exon 30 0.3030303 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATCGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 154 373 0.984016 1 0.992008 0.997795 0.9872684 0.9962213 0.9736677 NA NA -0.01220531 0.02633234 0.9925317 0.9849445 NA 0.007063514 NA FALSE NA 0.669 -0.093 . synonymous_variant LOW STAT3 HGNC 11364 ENST00000588969 4/24 1 NA CAA A,G 8.24e-06 17:42345628 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 synonymous_variant 1.395241 0.97102 0.63691 0.706548 0.7863797 0 0.9999892 TRUE 4.23686e-06 ENSE00002421162_012 ENSE00002421162 012 17 40497547 40497716 - 30 99 41 A G 40497678 1890 39 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTACAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345659 42345660 42345660 upstr_intron -3 -0.04878049 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTACAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant 13 18 0.9993276 1 0.9996638 652 105 0.9782622 0.9877551 0.9830087 0.997795 0.9872684 0.9962213 0.9736677 0.001532539 0.01273155 -0.01795914 0.01408748 0.9925317 0.9849445 0.007132045 -0.001935829 0.009067874 FALSE FALSE 0.997 0.383 . splice_region_variant&intron_variant LOW STAT3 HGNC 11364 ENST00000588969 3/23 rs375237933 1 NA G:0 G:0.0002 TAT A,G 2.477e-05 17:42345660 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 splice_region_variant 1.305269 0.93588 0.08677 0.115753 0.6141831 0.379378 0.9999892 TRUE 4.58838e-05 ENSE00002421162_013 ENSE00002421162 013 17 40497547 40497716 - 30 99 41 T A 40497683 1891 34 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTTCTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345664 42345665 42345665 upstr_intron -8 -0.1707317 GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTTCTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 411 843 0.9908678 0.9990153 0.9949416 0.997795 0.9872684 0.9962213 0.9736677 NA NA -0.00535351 0.02534766 0.9925317 0.9849445 NA 0.009997076 NA FALSE NA 0.002 -0.591 . splice_region_variant&intron_variant LOW STAT3 HGNC 11364 ENST00000588969 3/23 1 NA GTA T,A 8.264e-06 17:42345665 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 splice_region_variant 0.875752 0.15577 0.03887 0.062308 0.6778188 0.242715 0.9999892 TRUE 4.7305e-06 ENSE00002421162_014 ENSE00002421162 014 17 40497547 40497716 - 30 99 41 G A 40497686 1892 31 GTCTGCTGCTGATTTTTATTCTCTTTCTCTTCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345667 42345668 42345668 upstr_intron -11 -0.2439024 GTCTGCTGCTGATTTTTATTCTCTTTCTCTTCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 234 1774 1 0.9990939 0.9995469 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.003778684 0.02542621 0.9925317 0.9849445 NA 0.01460245 NA FALSE NA 0.714 2.424 . intron_variant MODIFIER STAT3 HGNC 11364 ENST00000588969 3/23 rs369440608 1 NA A:0 A:0.0001 GGA G,A 4.136e-05 17:42345668 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 intron_variant 0.88897 0.26753 0.65834 0.062308 0.6170063 0.650769 0.9999892 TRUE 8.80351e-05 ENSE00002421162_015 ENSE00002421162 015 17 40497547 40497716 - 30 99 41 G A 40497690 1893 27 GTCTGCTGCTGATTTTTATTCTCTTTTTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345671 42345672 42345672 upstr_intron -15 -0.3414634 GTCTGCTGCTGATTTTTATTCTCTTTTTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 524 169 0.8254801 1 0.91274 0.997795 0.9872684 0.9962213 0.9736677 NA NA -0.1707412 0.02633234 0.9925317 0.9849445 NA -0.07220444 NA FALSE NA 0 0.181 . intron_variant MODIFIER STAT3 HGNC 11364 ENST00000588969 3/23 1 NA AGA G,A 8.277e-06 17:42345672 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 intron_variant 0.125398 0.2188 0.12024 0.062308 0.5986031 0.0975636 0.9999892 TRUE 4.95403e-06 ENSE00002421162_016 ENSE00002421162 016 17 40497547 40497716 - 30 99 41 G C 40497696 1894 21 GTCTGCTGCTGATTTTTATTGTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345677 42345678 42345678 upstr_intron -21 -0.4878049 GTCTGCTGCTGATTTTTATTGTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 131 72 1 1 1 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.003778684 0.02633234 0.9925317 0.9849445 NA 0.01505551 NA FALSE NA 0.024 -0.049 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:42345678 STAT3 HGNC Symbol protein_coding 75244 ENSG00000168610 ENSE00003631188 intron_variant -0.47326 0.20091 0.01866 0.062308 0.668895 0.113817 0.9999892 TRUE 0.000572649 ENSE00002421162_017 ENSE00002421162 017 17 40497547 40497716 - 30 99 41 G A 40497696 1895 21 GTCTGCTGCTGATTTTTATTTTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT 42345528 42345698 42345677 42345678 42345678 upstr_intron -21 -0.4878049 GTCTGCTGCTGATTTTTATTTTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT GTCTGCTGCTGATTTTTATTCTCTTTCTCTCCTACTTATAGAGCAGGTATCTTGAGAAGCCAATGGAGATTGCCCGGATTGTGGCCCGGTGCCTGTGGGAAGAATCACGCCTTCTACAGACTGCAGCCACTGCGGCCCAGGTGAGACCTGAGACAAAACAAATCCCTGGT mutant NA NA NA NA NA 698 282 1 0.9816172 0.9908086 0.997795 0.9872684 0.9962213 0.9736677 NA NA 0.003778684 0.007949581 0.9925317 0.9849445 NA 0.005864133 NA FALSE NA 0.024 -0.049 NA NA NA STAT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STAT3 NA NA NA ENSG00000168610 ENSE00003631188 intron_variant -0.098283 0.1948 0.017 0.062308 0.7547171 0.113817 0.9999892 TRUE 0.000144452 ENSE00002421269_000 ENSE00002421269 000 2 220466668 220466837 + 42 96 32 NA NA NA NA NA CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT 219601945 219602115 NA NA NA NA NA NA CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT natural 133 337 0.85 0.85 0.85 457 122 0.8227722 0.8834254 0.8530988 0.85 0.85 0.8227722 0.8834254 0 0 0 0 0.85 0.8530988 0 0 0 FALSE FALSE NA NA NA NA NA STK11IP NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA STK11IP NA NA NA ENSG00000144589 ENSE00003608784 NA NA NA NA NA NA NA NA NA NA ENSE00002421269_003 ENSE00002421269 003 2 220466668 220466837 + 42 96 32 C A 220466690 4832 23 CTGTGGGGTTCTGCCTTCCTCCATCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT 219601945 219602115 219601967 219601968 219601968 upstr_intron -20 -0.452381 CTGTGGGGTTCTGCCTTCCTCCATCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT mutant NA NA NA NA NA 84 241 0.7750806 0.8 0.7875403 0.85 0.85 0.8227722 0.8834254 NA NA -0.04769162 -0.08342544 0.85 0.8530988 NA -0.06555853 NA FALSE NA 0 -0.184 . intron_variant&non_coding_transcript_variant MODIFIER STK11IP HGNC 19184 ENST00000475396 3/15 1 NA CCT C,A 8.271e-06 2:219601968 STK11IP HGNC Symbol protein_coding 18591 ENSG00000144589 ENSE00003608784 intron_variant -0.189638 0.19822 0.24181 0.163922 0.4118469 0.0521562 NA NA NA ENSE00002421269_011 ENSE00002421269 011 2 220466668 220466837 + 42 96 32 A T 220466738 4840 71 CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCTTGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT 219601945 219602115 219602015 219602016 219602016 exon 29 0.3020833 CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCTTGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT mutant NA NA NA NA NA 23 14 0.8 0.8 0.8 0.85 0.85 0.8227722 0.8834254 NA NA -0.0227722 -0.08342544 0.85 0.8530988 NA -0.05309882 NA FALSE NA 0.893 0.574 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STK11IP HGNC 19184 ENST00000475396 4/16 1 NA CAT A,T 8.272e-06 2:219602016 STK11IP HGNC Symbol protein_coding 18591 ENSG00000144589 ENSE00003608784 missense_variant 0.519567 0.35736 0.8037 0.732398 0.7183197 0 NA NA NA ENSE00002421269_023 ENSE00002421269 023 2 220466668 220466837 + 42 96 32 A G 220466799 4852 132 CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCGTTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT 219601945 219602115 219602076 219602077 219602077 exon -7 0.9375 CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCGTTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT mutant NA NA NA NA NA 39 27 0.8 0.8 0.8 0.85 0.85 0.8227722 0.8834254 NA NA -0.0227722 -0.08342544 0.85 0.8530988 NA -0.05309882 NA FALSE NA 0.001 -0.89 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER STK11IP HGNC 19184 ENST00000475396 4/16 1 NA CAT A,G 1.655e-05 2:219602077 STK11IP HGNC Symbol protein_coding 18591 ENSG00000144589 ENSE00003608784 synonymous_variant 1.2795 0.93026 0.21212 0.732398 0.705174 0 NA NA 4.43983e-05 ENSE00002421269_025 ENSE00002421269 025 2 220466668 220466837 + 42 96 32 G C 220466817 4854 150 CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTCAGGGGTGAGCTCAGACACCT 219601945 219602115 219602094 219602095 219602095 downstr_intron 12 1.387097 CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTCAGGGGTGAGCTCAGACACCT CTGTGGGGTTCTGCCTTCCTCCCTCCTCTTTCCTTGTCCCAGCTCCGAGGTGTTCCCCTCCACTGTCTGCATGGCCTCCGAGGCATCTACTCCCAGCTGGAGACCCTGATTTGCAGCAGGAGCCTCCAGGCATTAGAGGTAAGGAGAGTGAGGGGTGAGCTCAGACACCT mutant NA NA NA NA NA 13 553 0.8 0.8026431 0.8013216 0.85 0.85 0.8227722 0.8834254 NA NA -0.0227722 -0.08078231 0.85 0.8530988 NA -0.05177726 NA FALSE NA 0 0.013 . intron_variant&non_coding_transcript_variant MODIFIER STK11IP HGNC 19184 ENST00000475396 4/15 1 NA TGA G,C 2.488e-05 2:219602095 STK11IP HGNC Symbol protein_coding 18591 ENSG00000144589 ENSE00003608784 intron_variant 0.311677 0.22681 0.09273 0.106106 0.6422957 0.0520902 NA NA 9.75182e-06 ENSE00002421587_000 ENSE00002421587 000 7 127731821 127731990 + 68 45 57 NA NA NA NA NA GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 NA NA NA NA NA NA GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT natural 236 148 0.997828 0.9984503 0.9981392 674 681 0.8626822 0.9705617 0.916622 0.997828 0.9984503 0.8626822 0.9705617 0 0 0 0 0.9981392 0.916622 0 0 0 FALSE FALSE NA NA NA NA NA SND1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SND1 NA NA NA ENSG00000197157 ENSE00003572144 NA NA NA NA NA NA NA 0.9999171 TRUE NA ENSE00002421587_001 ENSE00002421587 001 7 127731821 127731990 + 68 45 57 C T 127731841 2405 21 GCAGGGTCCTGCTGGCTGATTATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091788 128091789 128091789 upstr_intron -48 -0.6911765 GCAGGGTCCTGCTGGCTGATTATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 422 893 1 0.997 0.9985 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1373178 0.02643826 0.9981392 0.916622 NA 0.08187803 NA FALSE NA 0 -0.028 . intron_variant MODIFIER SND1 HGNC 30646 ENST00000354725 22/23 1 NA TCA C,T 8.236e-06 7:128091789 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 intron_variant 0.297677 0.20639 0.05162 0.256867 0.3513618 0.0476178 0.9999171 TRUE 8.12387e-06 ENSE00002421587_003 ENSE00002421587 003 7 127731821 127731990 + 68 45 57 C T 127731860 2407 40 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGATCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091807 128091808 128091808 upstr_intron -29 -0.4117647 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGATCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 546 715 0.9631708 0.9999468 0.9815588 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1004885 0.02938506 0.9981392 0.916622 NA 0.06493681 NA FALSE NA 0.004 0.021 . intron_variant MODIFIER SND1 HGNC 30646 ENST00000354725 22/23 1 NA ACC C,T 8.236e-06 7:128091808 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 intron_variant 0.350374 0.22939 0.06523 0.256867 0.7197403 0.0476178 0.9999171 TRUE 4.06108e-06 ENSE00002421587_004 ENSE00002421587 004 7 127731821 127731990 + 68 45 57 A G 127731862 2408 42 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCGCTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091809 128091810 128091810 upstr_intron -27 -0.3823529 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCGCTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 259 190 0.9952324 1 0.9976162 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1325502 0.02943831 0.9981392 0.916622 NA 0.08099423 NA FALSE NA 0 -0.129 . intron_variant MODIFIER SND1 HGNC 30646 ENST00000354725 22/23 1 NA CAC A,G 8.236e-06 7:128091810 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 intron_variant 0.489897 0.20031 0.07335 0.256867 0.6262214 0.0476178 0.9999171 TRUE 1.62435e-05 ENSE00002421587_005 ENSE00002421587 005 7 127731821 127731990 + 68 45 57 C T 127731876 2409 56 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTTTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091823 128091824 128091824 upstr_intron -13 -0.1764706 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTTTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 933 223 0.9613339 0.9599876 0.9606608 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.09865173 -0.01057406 0.9981392 0.916622 NA 0.04403883 NA FALSE NA 0 -0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:128091824 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 intron_variant 0.327674 0.21316 0.1275 0.256867 0.7923559 0.0682425 0.9999171 TRUE 8.1215e-06 ENSE00002421587_006 ENSE00002421587 006 7 127731821 127731990 + 68 45 57 C G 127731876 2410 56 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTGTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091823 128091824 128091824 upstr_intron -13 -0.1764706 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTGTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 1519 121 1 1 1 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1373178 0.02943831 0.9981392 0.916622 NA 0.08337805 NA FALSE NA 0 -0.072 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SND1 NA NA NA ENSG00000197157 ENSE00003572144 intron_variant 0.194955 0.22073 0.1953 0.256867 0.6910023 0.0682425 0.9999171 TRUE 8.1215e-06 ENSE00002421587_007 ENSE00002421587 007 7 127731821 127731990 + 68 45 57 G A 127731879 2411 59 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCATCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091826 128091827 128091827 upstr_intron -10 -0.1323529 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCATCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 1032 1315 0.99337 1 0.996685 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1306878 0.02943831 0.9981392 0.916622 NA 0.08006306 NA FALSE NA 0 -1.2 NA NA NA SND1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:128091827 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 intron_variant 0.108258 0.19878 0.11624 0.256867 0.5804013 0.0682425 0.9999171 TRUE 9.33972e-05 ENSE00002421587_009 ENSE00002421587 009 7 127731821 127731990 + 68 45 57 A G 127731889 2413 69 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGGTCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091836 128091837 128091837 exon 1 0.02222222 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGGTCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 602 513 0.9997262 0.9971302 0.9984282 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.137044 0.02656852 0.9981392 0.916622 NA 0.08180627 NA FALSE NA 1 4.977 . missense_variant&splice_region_variant MODERATE SND1 HGNC 30646 ENST00000354725 23/24 1 tolerated(1) benign(0.004) NA GAT A,G 8.236e-06 7:128091837 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 missense_variant 0.31825 0.92464 0.85339 0.706548 0.4103659 0 0.9999171 TRUE 2.03031e-05 ENSE00002421587_010 ENSE00002421587 010 7 127731821 127731990 + 68 45 57 C T 127731891 2414 71 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATTACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091838 128091839 128091839 exon 3 0.06666667 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATTACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 496 509 0.9884938 1 0.9942469 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1258116 0.02943831 0.9981392 0.916622 NA 0.07762495 NA FALSE NA 1 1.824 . splice_region_variant&synonymous_variant LOW SND1 HGNC 30646 ENST00000354725 23/24 1 NA TCA C,T 1.647e-05 7:128091839 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 splice_region_variant 1.695407 0.91895 0.78289 0.706548 0.796334 0 0.9999171 TRUE 2.03029e-05 ENSE00002421587_011 ENSE00002421587 011 7 127731821 127731990 + 68 45 57 A G 127731899 2415 79 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATGCCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091846 128091847 128091847 exon 11 0.2444444 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATGCCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 582 786 0.9994329 0.9937121 0.9965725 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1367507 0.02315046 0.9981392 0.916622 NA 0.07995059 NA FALSE NA 1 7.027 rs145841136 missense_variant MODERATE SND1 HGNC 30646 ENST00000354725 23/24 1 deleterious(0) probably_damaging(0.995) NA TAC A,G 8.236e-06 7:128091847 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 missense_variant 6.036012 0.94857 0.96448 0.706548 0.9972805 0 0.9999171 TRUE 4.06058e-06 ENSE00002421587_012 ENSE00002421587 012 7 127731821 127731990 + 68 45 57 G A 127731903 2416 83 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTAAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091850 128091851 128091851 exon 15 0.3333333 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTAAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 831 677 0.9639268 0.9621403 0.9630336 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1012446 -0.008421344 0.9981392 0.916622 NA 0.04641163 NA FALSE NA 1 1.776 rs149009151 synonymous_variant LOW SND1 HGNC 30646 ENST00000354725 23/24 rs149009151 1 NA A:0 A:0.0001 TGA G,A 4.118e-05 7:128091851 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 synonymous_variant 1.540658 0.91918 0.83839 0.706548 0.6525698 0 0.9999171 TRUE 7.71505e-05 ENSE00002421587_013 ENSE00002421587 013 7 127731821 127731990 + 68 45 57 G T 127731926 2417 106 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGATCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091873 128091874 128091874 exon -8 0.8444444 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGATCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 128 381 1 0.9991689 0.9995844 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1373178 0.0286072 0.9981392 0.916622 NA 0.0829625 NA FALSE NA 0.994 2.601 . missense_variant MODERATE SND1 HGNC 30646 ENST00000354725 23/24 1 deleterious(0.02) benign(0.242) NA AGC G,T 8.236e-06 7:128091874 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 missense_variant 3.968928 0.91547 0.87567 0.706548 0.9936054 0 0.9999171 TRUE 4.06065e-06 ENSE00002421587_015 ENSE00002421587 015 7 127731821 127731990 + 68 45 57 C G 127731927 2419 107 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGGGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091874 128091875 128091875 exon -7 0.8666667 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGGGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 602 588 0.9978613 0.9892544 0.9935579 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1351791 0.01869271 0.9981392 0.916622 NA 0.07693592 NA FALSE NA 0.001 -2.21 NA NA NA SND1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:128091875 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 missense_variant 2.138239 0.82855 0.29146 0.706548 0.8826881 0 0.9999171 TRUE NA ENSE00002421587_016 ENSE00002421587 016 7 127731821 127731990 + 68 45 57 T A 127731948 2420 128 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTAGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091895 128091896 128091896 downstr_intron 15 1.267857 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTAGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 137 91 1 0.9965826 0.9982913 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1373178 0.02602091 0.9981392 0.916622 NA 0.08166935 NA FALSE NA 0.025 0.463 . intron_variant MODIFIER SND1 HGNC 30646 ENST00000354725 23/23 1 NA TTG T,A 8.236e-06 7:128091896 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 intron_variant 0.77581 0.20208 0.14056 0.069865 0.6697504 0.0616935 0.9999171 TRUE 8.12137e-06 ENSE00002421587_017 ENSE00002421587 017 7 127731821 127731990 + 68 45 57 G A 127731962 2421 142 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAAGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 128091909 128091910 128091910 downstr_intron 29 1.517857 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAAGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 335 209 1 0.9968431 0.9984216 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1373178 0.02628146 0.9981392 0.916622 NA 0.08179962 NA FALSE NA 0.033 0.867 . intron_variant MODIFIER SND1 HGNC 30646 ENST00000354725 23/23 1 NA AGG G,A 8.236e-06 7:128091910 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 intron_variant -0.017961 0.20006 0.21313 0.069865 0.4335147 0.0616935 0.9999171 TRUE 4.06065e-06 ENSE00002421587_018 ENSE00002421587 018 7 127731821 127731990 + 68 45 57 G A 127731979 2422 159 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGATTTGGCCCTCT 128091768 128091938 128091926 128091927 128091927 downstr_intron 46 1.821429 GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGATTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT mutant NA NA NA NA NA 636 153 0.9884448 1 0.9942224 0.997828 0.9984503 0.8626822 0.9705617 NA NA 0.1257626 0.02943831 0.9981392 0.916622 NA 0.07760047 NA FALSE NA 0.083 1.603 rs191827793 intron_variant MODIFIER SND1 HGNC 30646 ENST00000354725 23/23 rs191827793 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGT G,A 1.647e-05 7:128091927 SND1 HGNC Symbol protein_coding 440429 ENSG00000197157 ENSE00003572144 intron_variant 0.040171 0.2252 0.23325 0.115753 0.6807484 0.0476976 0.9999171 TRUE 8.1213e-06 ENSE00002421587_BRK ENSE00002421587 BRK 7 127731821 127731990 + 68 45 57 A,G; T,T NA NA NA GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCTTATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGCCGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT 128091768 128091938 NA NA NA NA NA NA GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCTTATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGCCGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT GCAGGGTCCTGCTGGCTGATCATTTGAGGGCAACTCTGACCACTCCCTTTCTTCTCTCGTCCCTCCAGATCACAGAATACCTGAATGCCCAAGAGTCAGCCAAGAGCGCCAGGGTGAGTTCTTACCTTGGGAGCCCCCAGAGGGTACCGAGTTGAGGGGTTTGGCCCTCT control 56 128 0 0 0 42 332 0 0.009090728 0.004545364 0.997828 0.9984503 0.8626822 0.9705617 -0.997828 -0.9984503 -0.8626822 -0.961471 0.9981392 0.916622 -0.9981392 -0.9120766 0.08606256 TRUE TRUE NA NA NA NA NA SND1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SND1 NA NA NA ENSG00000197157 ENSE00003572144 NA NA NA NA NA NA NA 0.9999171 TRUE NA ENSE00002422133_000 ENSE00002422133 000 3 73438919 73439088 - 48 63 59 NA NA NA NA NA CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 NA NA NA NA NA NA CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG natural NA NA NA NA NA 759 457 0.9924438 0.9900028 0.9912233 NA NA 0.9924438 0.9900028 NA NA 0 0 NA 0.9912233 NA 0 NA FALSE NA NA NA NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PDZRN3 NA NA NA ENSG00000121440 ENSE00003660903 NA NA NA NA NA NA NA 0.9083761 TRUE NA ENSE00002422133_001 ENSE00002422133 001 3 73438919 73439088 - 48 63 59 C G 73438937 2090 152 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATCATGGGCCTATCACTAAAG 73389767 73389937 73389785 73389786 73389786 downstr_intron 30 1.638298 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATCATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 29 80 1 1 1 NA NA 0.9924438 0.9900028 NA NA 0.007556201 0.009997177 NA 0.9912233 NA 0.008776689 NA FALSE NA 0 -0.705 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 5/6 1 NA TCA T,G 8.236e-06 3:73389786 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 intron_variant -0.284876 0.14775 0.00103 0.078448 0.4473659 0.0596355 0.9083761 TRUE 4.06415e-06 ENSE00002422133_002 ENSE00002422133 002 3 73438919 73439088 - 48 63 59 G A 73438940 2091 149 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTTATGATGGGCCTATCACTAAAG 73389767 73389937 73389788 73389789 73389789 downstr_intron 27 1.574468 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTTATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 889 41 1 1 1 NA NA 0.9924438 0.9900028 NA NA 0.007556201 0.009997177 NA 0.9912233 NA 0.008776689 NA FALSE NA 0.005 0.018 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 5/6 1 NA TGA G,A 8.236e-06 3:73389789 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 intron_variant 0.193676 0.30747 0.06323 0.078448 0.7590955 0.0596355 0.9083761 TRUE NA ENSE00002422133_003 ENSE00002422133 003 3 73438919 73439088 - 48 63 59 G A 73438942 2092 147 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCTTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389790 73389791 73389791 downstr_intron 25 1.531915 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCTTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 173 75 0.9902066 1 0.9951033 NA NA 0.9924438 0.9900028 NA NA -0.002237212 0.009997177 NA 0.9912233 NA 0.003879982 NA FALSE NA 0.016 0.549 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 5/6 1 NA AGG G,A 2.471e-05 3:73389791 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 intron_variant 0.055082 0.2175 0.08914 0.078448 0.6587722 0.0596355 0.9083761 TRUE 2.03173e-05 ENSE00002422133_005 ENSE00002422133 005 3 73438919 73439088 - 48 63 59 G A 73438959 2094 130 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCTACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389807 73389808 73389808 downstr_intron 8 1.170213 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCTACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 710 888 0.9945565 0.9998219 0.9971892 NA NA 0.9924438 0.9900028 NA NA 0.002112741 0.009819036 NA 0.9912233 NA 0.005965889 NA FALSE NA 0 -0.521 rs75255967 splice_region_variant&intron_variant&non_coding_transcript_variant LOW PDZRN3 HGNC 17704 ENST00000466348 5/6 rs75255967 1 A:0.0156 A:0.0567 A:0 NA A:0 A:0.003 A:0 A:0.0588 A:0.0005 TGG G,A 0.005164 3:73389808 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 splice_region_variant -0.261389 0.08095 0.00739 0.053691 0.6067519 0.0937653 0.9083761 TRUE 0.00393985 ENSE00002422133_008 ENSE00002422133 008 3 73438919 73439088 - 48 63 59 A G 73438973 2097 116 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATCATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389821 73389822 73389822 exon -7 0.9047619 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATCATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 563 850 1 0.9976747 0.9988374 NA NA 0.9924438 0.9900028 NA NA 0.007556201 0.007671903 NA 0.9912233 NA 0.007614052 NA FALSE NA 0.795 0.096 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 5/7 1 NA TAA A,G 1.647e-05 3:73389822 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 synonymous_variant 0.718711 0.34198 0.25035 0.706298 0.7242218 0 0.9083761 TRUE 2.43657e-05 ENSE00002422133_010 ENSE00002422133 010 3 73438919 73439088 - 48 63 59 C T 73438977 2099 112 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCACATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389825 73389826 73389826 exon -11 0.8412698 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCACATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 284 176 1 0.9862764 0.9931382 NA NA 0.9924438 0.9900028 NA NA 0.007556201 -0.003726385 NA 0.9912233 NA 0.001914908 NA FALSE NA 1 3.014 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 5/7 COSM1742311&COSM3781864 1 NA GCG C,T 8.236e-06 3:73389826 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 missense_variant 6.13473 0.9843 0.92725 0.706298 0.999301 0 0.9083761 TRUE 8.12249e-06 ENSE00002422133_012 ENSE00002422133 012 3 73438919 73439088 - 48 63 59 C T 73438989 2101 100 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCAAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389837 73389838 73389838 exon -23 0.6507937 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCAAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 856 422 0.8201246 0.988907 0.9045158 NA NA 0.9924438 0.9900028 NA NA -0.1723192 -0.001095798 NA 0.9912233 NA -0.08670752 NA FALSE NA 0.999 7.641 rs187848097 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 5/7 rs187848097&COSM1538772 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 TCG C,T 2.471e-05 3:73389838 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 missense_variant 5.368553 0.99398 0.99102 0.706298 0.9995809 0 0.9083761 TRUE 1.62444e-05 ENSE00002422133_014 ENSE00002422133 014 3 73438919 73439088 - 48 63 59 C T 73438999 2103 90 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATAGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389847 73389848 73389848 exon 31 0.4920635 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATAGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 38 2848 1 0.9941907 0.9970954 NA NA 0.9924438 0.9900028 NA NA 0.007556201 0.004187896 NA 0.9912233 NA 0.005872049 NA FALSE NA 1 7.641 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 5/7 1 NA CCA C,T 8.236e-06 3:73389848 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 missense_variant 7.353145 0.99398 0.99102 0.706298 0.9994225 0 0.9083761 TRUE 4.06111e-06 ENSE00002422133_017 ENSE00002422133 017 3 73438919 73439088 - 48 63 59 G C 73439024 2106 65 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGAGCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389872 73389873 73389873 exon 6 0.0952381 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGAGCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 1615 3141 0.9987196 0.9940026 0.9963611 NA NA 0.9924438 0.9900028 NA NA 0.006275784 0.003999784 NA 0.9912233 NA 0.005137784 NA FALSE NA 0.998 0.615 rs146640162 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 5/7 rs146640162 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 C:0.0002 C:0.0007 GGT G,C 0.0004201 3:73389873 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 missense_variant 2.507246 0.97307 0.94869 0.706298 0.993461 0 0.9083761 TRUE 0.00041425 ENSE00002422133_018 ENSE00002422133 018 3 73438919 73439088 - 48 63 59 A G 73439027 2107 62 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATCGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389875 73389876 73389876 exon 3 0.04761905 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATCGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 23 45 1 1 1 NA NA 0.9924438 0.9900028 NA NA 0.007556201 0.009997177 NA 0.9912233 NA 0.008776689 NA FALSE NA 0.084 -0.176 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW PDZRN3 HGNC 17704 ENST00000466348 5/7 1 NA CAA A,G 8.236e-06 3:73389876 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 splice_region_variant 1.639707 0.92441 0.21441 0.706298 0.7651039 0 0.9083761 TRUE 4.06134e-06 ENSE00002422133_019 ENSE00002422133 019 3 73438919 73439088 - 48 63 59 C T 73439038 2108 51 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTATGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389886 73389887 73389887 upstr_intron -9 -0.1355932 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTATGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 931 672 0.8388103 0.9994317 0.919121 NA NA 0.9924438 0.9900028 NA NA -0.1536334 0.009428837 NA 0.9912233 NA -0.07210231 NA FALSE NA 0.12 -0.061 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/6 1 NA ACA C,T 8.236e-06 3:73389887 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 intron_variant 2.100192 0.62283 0.17874 0.053691 0.8439269 0.303465 0.9083761 TRUE 4.06151e-06 ENSE00002422133_020 ENSE00002422133 020 3 73438919 73439088 - 48 63 59 C T 73439040 2109 49 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATATGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389888 73389889 73389889 upstr_intron -11 -0.1694915 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATATGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 29 1747 1 0.9999095 0.9999547 NA NA 0.9924438 0.9900028 NA NA 0.007556201 0.009906638 NA 0.9912233 NA 0.00873142 NA FALSE NA 0.003 -0.53 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/6 rs537077796 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 ACA C,T 8.236e-06 3:73389889 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 intron_variant 1.142152 0.23782 0.02525 0.053691 0.7536576 0.310249 0.9083761 TRUE 4.0621e-06 ENSE00002422133_021 ENSE00002422133 021 3 73438919 73439088 - 48 63 59 T A 73439042 2110 47 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCTTGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389890 73389891 73389891 upstr_intron -13 -0.2033898 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCTTGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 272 62 1 0.9915996 0.9957998 NA NA 0.9924438 0.9900028 NA NA 0.007556201 0.001596825 NA 0.9912233 NA 0.004576513 NA FALSE NA 0.002 0.722 NA NA NA PDZRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:73389891 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 intron_variant 0.722877 0.22258 0.01456 0.053691 0.746388 0.147186 0.9083761 TRUE 1.21854e-05 ENSE00002422133_023 ENSE00002422133 023 3 73438919 73439088 - 48 63 59 C T 73439052 2112 37 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTAAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389900 73389901 73389901 upstr_intron -23 -0.3728814 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTAAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 41 78 1 1 1 NA NA 0.9924438 0.9900028 NA NA 0.007556201 0.009997177 NA 0.9912233 NA 0.008776689 NA FALSE NA 0 -0.266 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/6 1 NA TCA C,T 8.236e-06 3:73389901 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 intron_variant 0.803287 0.97154 0.22557 0.053691 0.6999827 0.100669 0.9083761 TRUE 4.06359e-06 ENSE00002422133_024 ENSE00002422133 024 3 73438919 73439088 - 48 63 59 C T 73439055 2113 34 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCACTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG 73389767 73389937 73389903 73389904 73389904 upstr_intron -26 -0.4237288 CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCACTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG CTGTTGCTTATTTTCATGCATGTCTGCGTTTGCGCTGAGATGGTCCATGTGTGTTTCAGATTGACCCTAACAGCATTGCAGCCAAGGATGGGCGCATCCGAGAAGGAGACCGCATTATCCAGGTAAGTCCACTTCCAAACAATGGCCTCATGATGGGCCTATCACTAAAG mutant NA NA NA NA NA 611 117 1 0.9832278 0.9916139 NA NA 0.9924438 0.9900028 NA NA 0.007556201 -0.006774982 NA 0.9912233 NA 0.0003906098 NA FALSE NA 0 0.878 . intron_variant&non_coding_transcript_variant MODIFIER PDZRN3 HGNC 17704 ENST00000466348 4/6 rs558601468 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCG C,T 2.471e-05 3:73389904 PDZRN3 HGNC Symbol protein_coding 242507 ENSG00000121440 ENSE00003660903 intron_variant 0.676556 0.90233 0.08506 0.053691 0.5613969 0.682963 0.9083761 TRUE 2.03265e-05 ENSE00002422191_000 ENSE00002422191 000 6 36723969 36724138 - 53 54 63 NA NA NA NA NA CTTGGGGCTCAGAATGTCTACACCCGGCTGCAGAGACCGGGGTGGCTACTCACTGTGCCAGAATTCACGTATTTCTTTTTCTTCATTTTCTTTTTCGGGTTTACCACCTGCAGGAAAAACCAGTTACCAGGTAAGGCATGCTTCCAGGCAGTCAGGGTGAGTCTTGAGGG 36756191 36756361 NA NA NA NA NA NA CCCTCAAGACTCACCCTGACTGCCTGGAAGCATGCCTTACCTGGTAACTGGTTTTTCCTGCAGGTGGTAAACCCGAAAAAGAAAATGAAGAAAAAGAAATACGTGAATTCTGGCACAGTGAGTAGCCACCCCGGTCTCTGCAGCCGGGTGTAGACATTCTGAGCCCCAAG CCCTCAAGACTCACCCTGACTGCCTGGAAGCATGCCTTACCTGGTAACTGGTTTTTCCTGCAGGTGGTAAACCCGAAAAAGAAAATGAAGAAAAAGAAATACGTGAATTCTGGCACAGTGAGTAGCCACCCCGGTCTCTGCAGCCGGGTGTAGACATTCTGAGCCCCAAG natural NA NA NA NA NA 744 256 0.9945437 0.9944623 0.994503 NA NA 0.9945437 0.9944623 NA NA 0 0 NA 0.994503 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CYFIP1 NA NA NA NA ENSE00003643223 NA NA NA NA NA NA NA 0.994933 TRUE NA ENSE00002422311_000 ENSE00002422311 000 5 140057210 140057379 - 30 99 41 NA NA NA NA NA GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 NA NA NA NA NA NA GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC natural 125 165 0.9986488 0.9942785 0.9964636 3220 5057 0.9335296 0.9871648 0.9603472 0.9986488 0.9942785 0.9335296 0.9871648 0 0 0 0 0.9964636 0.9603472 0 0 0 FALSE FALSE NA NA NA NA NA HARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HARS NA NA NA ENSG00000170445 ENSE00002503788 NA NA NA NA NA NA NA 0.0007360509 FALSE NA ENSE00002422311_001 ENSE00002422311 001 5 140057210 140057379 - 30 99 41 T C 140057220 1334 160 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGGCTTCTTTTCC 140677624 140677794 140677634 140677635 140677635 downstr_intron 20 1.689655 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGGCTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 1909 1291 0.9989171 0.9968713 0.9978942 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.0653875 0.00970648 0.9964636 0.9603472 NA 0.03754699 NA FALSE NA 0.002 0.017 . intron_variant MODIFIER HARS HGNC 4816 ENST00000457527 7/12 1 NA GTC T,C 8.236e-06 5:140677635 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 intron_variant 2.080423 0.21481 0.14391 0.256867 0.8424204 0.387913 0.0007360509 FALSE 1.2188e-05 ENSE00002422311_003 ENSE00002422311 003 5 140057210 140057379 - 30 99 41 C T 140057227 1336 153 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAATACTTGACTTCTTTTCC 140677624 140677794 140677641 140677642 140677642 downstr_intron 13 1.448276 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAATACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 279 201 0.9995566 1 0.9997783 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06602704 0.01283522 0.9964636 0.9603472 NA 0.03943113 NA FALSE NA 0 -0.916 . intron_variant MODIFIER HARS HGNC 4816 ENST00000457527 7/12 1 NA ACT C,T 8.236e-06 5:140677642 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 intron_variant 1.890814 0.18359 0.02904 0.256867 0.7017184 0.387913 0.0007360509 FALSE 4.06197e-06 ENSE00002422311_006 ENSE00002422311 006 5 140057210 140057379 - 30 99 41 G A 140057252 1339 128 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGATAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677666 140677667 140677667 exon -13 0.8787879 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGATAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 10 57 0.9958105 0.9669468 0.9813787 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06228094 -0.02021794 0.9964636 0.9603472 NA 0.0210315 NA FALSE NA 1 3.283 . synonymous_variant LOW HARS HGNC 4816 ENST00000457527 7/13 1 NA TGT G,A 8.236e-06 5:140677667 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 synonymous_variant 0.914055 0.92898 0.90376 0.706548 0.812921 0 0.0007360509 FALSE 4.06078e-06 ENSE00002422311_007 ENSE00002422311 007 5 140057210 140057379 - 30 99 41 A G 140057256 1340 124 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGCAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677670 140677671 140677671 exon -17 0.8383838 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGCAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 76 122 0.9850142 0.9996874 0.9923508 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.05148455 0.01252267 0.9964636 0.9603472 NA 0.03200361 NA FALSE NA 1 8.706 . missense_variant MODERATE HARS HGNC 4816 ENST00000457527 7/13 rs536175170 1 deleterious(0.02) benign(0.097) NA TAC A,G 1.647e-05 5:140677671 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 missense_variant 4.683215 0.96821 0.97755 0.706548 0.9984266 0 0.0007360509 FALSE 1.21821e-05 ENSE00002422311_008 ENSE00002422311 008 5 140057210 140057379 - 30 99 41 C T 140057274 1341 106 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCATACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677688 140677689 140677689 exon -35 0.6565657 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCATACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 25 204 1 0.9953808 0.9976904 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.008216014 0.9964636 0.9603472 NA 0.0373432 NA FALSE NA 0.994 1.8 . missense_variant MODERATE HARS HGNC 4816 ENST00000457527 7/13 rs550778711&COSM1061748&COSM1061749 1 deleterious(0.04) benign(0.052) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 1.647e-05 5:140677689 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 missense_variant 6.159128 0.96151 0.86071 0.706548 0.9988415 0 0.0007360509 FALSE 2.84248e-05 ENSE00002422311_009 ENSE00002422311 009 5 140057210 140057379 - 30 99 41 G A 140057275 1342 105 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCTGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677689 140677690 140677690 exon -36 0.6464646 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCTGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 553 305 0.9895813 0.9994993 0.9945403 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.05605167 0.01233455 0.9964636 0.9603472 NA 0.03419311 NA FALSE NA 1 1.908 rs186526524 missense_variant MODERATE HARS HGNC 4816 ENST00000457527 7/13 rs186526524&COSM1061750&COSM1061751 1 deleterious(0) probably_damaging(0.953) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 9.06e-05 5:140677690 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 missense_variant 7.792661 0.94241 0.88951 0.706548 0.9993751 0 0.0007360509 FALSE 9.74548e-05 ENSE00002422311_010 ENSE00002422311 010 5 140057210 140057379 - 30 99 41 C T 140057279 1343 101 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAATTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677693 140677694 140677694 exon -40 0.6060606 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAATTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 213 616 1 0.9984326 0.9992163 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.0112678 0.9964636 0.9603472 NA 0.0388691 NA FALSE NA 1 2.905 . synonymous_variant LOW HARS HGNC 4816 ENST00000457527 7/13 1 NA ACT C,T 8.236e-06 5:140677694 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 synonymous_variant 2.500546 0.9616 0.91237 0.706548 0.8824651 0 0.0007360509 FALSE 4.06062e-06 ENSE00002422311_011 ENSE00002422311 011 5 140057210 140057379 - 30 99 41 A C 140057290 1344 90 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTGCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677704 140677705 140677705 exon 49 0.4949495 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTGCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 109 272 1 1 1 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.01283522 0.9964636 0.9603472 NA 0.03965281 NA FALSE NA 1 7.363 . missense_variant MODERATE HARS HGNC 4816 ENST00000457527 7/13 1 deleterious(0) benign(0.07) NA GAA A,C 4.942e-05 5:140677705 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 missense_variant 3.040358 0.95814 0.92705 0.706548 0.9826066 0 0.0007360509 FALSE 0.000133999 ENSE00002422311_012 ENSE00002422311 012 5 140057210 140057379 - 30 99 41 G A 140057300 1345 80 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATTTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677714 140677715 140677715 exon 39 0.3939394 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATTTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 676 453 0.8673831 1 0.9336915 0.9986488 0.9942785 0.9335296 0.9871648 NA NA -0.06614654 0.01283522 0.9964636 0.9603472 NA -0.02665566 NA FALSE NA 0.993 0.064 . synonymous_variant LOW HARS HGNC 4816 ENST00000457527 7/13 1 NA AGA G,A 8.236e-06 5:140677715 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 synonymous_variant 1.715745 0.92024 0.81059 0.706548 0.8037212 0 0.0007360509 FALSE 8.1215e-06 ENSE00002422311_013 ENSE00002422311 013 5 140057210 140057379 - 30 99 41 C T 140057314 1346 66 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATAGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677728 140677729 140677729 exon 25 0.2525253 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATAGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 136 56 1 1 1 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.01283522 0.9964636 0.9603472 NA 0.03965281 NA FALSE NA 1 7.274 . missense_variant MODERATE HARS HGNC 4816 ENST00000457527 7/13 1 deleterious(0) probably_damaging(0.996) NA CCA C,T 4.942e-05 5:140677729 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 missense_variant 7.16734 0.97397 0.96936 0.706548 0.9994001 0 0.0007360509 FALSE 6.90316e-05 ENSE00002422311_015 ENSE00002422311 015 5 140057210 140057379 - 30 99 41 A G 140057319 1348 61 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCCAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677733 140677734 140677734 exon 20 0.2020202 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCCAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 95 247 0.8492035 1 0.9246018 0.9986488 0.9942785 0.9335296 0.9871648 NA NA -0.08432609 0.01283522 0.9964636 0.9603472 NA -0.03574543 NA FALSE NA 1 8.706 . missense_variant MODERATE HARS HGNC 4816 ENST00000457527 7/13 1 deleterious(0) probably_damaging(0.981) NA TAG A,G 8.236e-06 5:140677734 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 missense_variant 6.060624 0.96789 0.97727 0.706548 0.9988018 0 0.0007360509 FALSE 1.21823e-05 ENSE00002422311_016 ENSE00002422311 016 5 140057210 140057379 - 30 99 41 G C 140057326 1349 54 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGAGGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677740 140677741 140677741 exon 13 0.1313131 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGAGGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 390 345 1 0.9995575 0.9997788 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.01239276 0.9964636 0.9603472 NA 0.03943158 NA FALSE NA 1 4.152 . missense_variant MODERATE HARS HGNC 4816 ENST00000457527 7/13 1 deleterious(0.04) probably_damaging(0.946) NA CGT G,C 8.236e-06 5:140677741 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 missense_variant 4.239969 0.9623 0.94964 0.706548 0.9881237 0 0.0007360509 FALSE NA ENSE00002422311_018 ENSE00002422311 018 5 140057210 140057379 - 30 99 41 C T 140057332 1351 48 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACAATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677746 140677747 140677747 exon 7 0.07070707 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACAATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 74 377 1 0.999899 0.9999495 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.01273421 0.9964636 0.9603472 NA 0.0396023 NA FALSE NA 1 7.274 . missense_variant MODERATE HARS HGNC 4816 ENST00000457527 7/13 1 tolerated(0.06) probably_damaging(0.979) NA TCG C,T 2.471e-05 5:140677747 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 missense_variant 5.354286 0.97397 0.96936 0.706548 0.994125 0 0.0007360509 FALSE 1.62442e-05 ENSE00002422311_019 ENSE00002422311 019 5 140057210 140057379 - 30 99 41 G A 140057333 1352 47 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAATGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677747 140677748 140677748 exon 6 0.06060606 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAATGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 472 918 0.9999128 0.9969501 0.9984314 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06638317 0.009785298 0.9964636 0.9603472 NA 0.03808424 NA FALSE NA 0.01 -0.701 rs1131039 synonymous_variant LOW HARS HGNC 4816 ENST00000457527 7/13 rs1131039&COSM128133&COSM128134 1 NA CGT G,A 1.647e-05 5:140677748 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 synonymous_variant 0.612707 0.87818 0.1247 0.706548 0.7585843 0 0.0007360509 FALSE 1.62437e-05 ENSE00002422311_020 ENSE00002422311 020 5 140057210 140057379 - 30 99 41 G A 140057341 1353 39 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGTAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677755 140677756 140677756 upstr_intron -3 -0.04878049 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGTAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 303 181 1 0.9974363 0.9987182 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.01027153 0.9964636 0.9603472 NA 0.03837096 NA FALSE NA 0.987 2.134 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:140677756 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 splice_region_variant 0.475025 0.92784 0.8949 0.156188 0.5809779 0.314796 0.0007360509 FALSE 4.06124e-06 ENSE00002422311_021 ENSE00002422311 021 5 140057210 140057379 - 30 99 41 G T 140057341 1354 39 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGAAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677755 140677756 140677756 upstr_intron -3 -0.04878049 GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGAAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 141 251 0.8849579 0.7444118 0.8146849 0.9986488 0.9942785 0.9335296 0.9871648 NA NA -0.04857169 -0.2427529 0.9964636 0.9603472 NA -0.1456623 NA FALSE NA 0.987 2.134 NA NA NA HARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HARS NA NA NA ENSG00000170445 ENSE00002503788 splice_region_variant 0.36211 0.9295 0.9165 0.156188 0.5370205 0.314796 0.0007360509 FALSE 4.06124e-06 ENSE00002422311_024 ENSE00002422311 024 5 140057210 140057379 - 30 99 41 T C 140057357 1357 23 GAAAAGAGATTCCCCCCTCACTGTGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677771 140677772 140677772 upstr_intron -19 -0.4390244 GAAAAGAGATTCCCCCCTCACTGTGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 880 588 1 1 1 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.01283522 0.9964636 0.9603472 NA 0.03965281 NA FALSE NA 0 -2.698 . upstream_gene_variant MODIFIER HARS HGNC 4816 ENST00000509087 1 NA ATA T,C 8.236e-06 5:140677772 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 non_coding_transcript_exon_variant 0.247858 0.22342 0.06099 0.156188 0.5544293 0.0892971 0.0007360509 FALSE 1.62451e-05 ENSE00002422311_026 ENSE00002422311 026 5 140057210 140057379 - 30 99 41 G T 140057363 1359 17 GAAAAGAGATTCCCCCATCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677777 140677778 140677778 upstr_intron -25 -0.5853659 GAAAAGAGATTCCCCCATCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 313 235 1 0.9996755 0.9998377 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.01251068 0.9964636 0.9603472 NA 0.03949054 NA FALSE NA 0 -0.179 . upstream_gene_variant MODIFIER HARS HGNC 4816 ENST00000509087 1 NA AGG G,T 8.237e-06 5:140677778 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 non_coding_transcript_exon_variant -0.014813 0.28264 0.15797 0.156188 0.6303856 0.0892971 0.0007360509 FALSE 4.0618e-06 ENSE00002422311_027 ENSE00002422311 027 5 140057210 140057379 - 30 99 41 G C 140057368 1360 12 GAAAAGAGATTGCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 140677782 140677783 140677783 upstr_intron -30 -0.7073171 GAAAAGAGATTGCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC mutant NA NA NA NA NA 733 554 1 0.9963644 0.9981822 0.9986488 0.9942785 0.9335296 0.9871648 NA NA 0.06647039 0.009199618 0.9964636 0.9603472 NA 0.03783501 NA FALSE NA 0 0.191 . upstream_gene_variant MODIFIER HARS HGNC 4816 ENST00000509087 1 NA GGA G,C 3.295e-05 5:140677783 HARS HGNC Symbol protein_coding 17958 ENSG00000170445 ENSE00002503788 non_coding_transcript_exon_variant -0.082177 0.25231 0.30207 0.156188 0.3819253 0.0536425 0.0007360509 FALSE 2.84368e-05 ENSE00002422311_BRK ENSE00002422311 BRK 5 140057210 140057379 - 30 99 41 A,G; T,T NA NA NA GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCTTGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGCCAACAACCCAAGTACTTGACTTCTTTTCC 140677624 140677794 NA NA NA NA NA NA GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCTTGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGCCAACAACCCAAGTACTTGACTTCTTTTCC GAAAAGAGATTCCCCCCTCACTATGCATTGGTTCCTTGCAGGTAAACGATCGACGCATTCTAGATGGGATGTTTGCTATCTGTGGTGTTTCTGACAGCAAGTTCCGTACCATCTGCTCCTCAGTAGACAAGCTGGACAAGGTAACAACCCAAGTACTTGACTTCTTTTCC control 368 230 0.003576521 0 0.001788261 1180 110 0 0.05446117 0.02723059 0.9986488 0.9942785 0.9335296 0.9871648 -0.9950722 -0.9942785 -0.9335296 -0.9327036 0.9964636 0.9603472 -0.9946754 -0.9331166 0.06155876 TRUE TRUE NA NA NA NA NA HARS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HARS NA NA NA ENSG00000170445 ENSE00002503788 NA NA NA NA NA NA NA 0.0007360509 FALSE NA ENSE00002422605_000 ENSE00002422605 000 12 104335553 104335722 + 57 66 47 NA NA NA NA NA GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 NA NA NA NA NA NA GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG natural 78 123 0.9988174 0.9966087 0.997713 3255 3680 0.9122579 0.8373058 0.8747818 0.9988174 0.9966087 0.9122579 0.8373058 0 0 0 0 0.997713 0.8747818 0 0 0 FALSE FALSE NA NA NA NA NA HSP90B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HSP90B1 NA NA NA ENSG00000166598 ENSE00003466608 NA NA NA NA NA NA NA 0.9878431 TRUE NA ENSE00002422605_001 ENSE00002422605 001 12 104335553 104335722 + 57 66 47 C T 104335567 2999 15 GCTTTGCTTTCTTCTAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941788 103941789 103941789 upstr_intron -43 -0.7368421 GCTTTGCTTTCTTCTAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 1028 177 0.9971225 1 0.9985613 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.08486462 0.1626942 0.997713 0.8747818 NA 0.1237794 NA FALSE NA 0 -1.131 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA CCA C,T 1.647e-05 12:103941789 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant -0.081405 0.32635 0.21155 0.256867 0.2463924 0.0520048 0.9878431 TRUE 8.1355e-06 ENSE00002422605_003 ENSE00002422605 003 12 104335553 104335722 + 57 66 47 T G 104335570 3001 18 GCTTTGCTTTCTTCCAGGGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941791 103941792 103941792 upstr_intron -40 -0.6842105 GCTTTGCTTTCTTCCAGGGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 370 101 0.9847433 1 0.9923717 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.0724854 0.1626942 0.997713 0.8747818 NA 0.1175898 NA FALSE NA 0.004 2.252 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:103941792 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 0.448793 0.43123 0.71818 0.256867 0.6788577 0.0677097 0.9878431 TRUE 4.06504e-06 ENSE00002422605_004 ENSE00002422605 004 12 104335553 104335722 + 57 66 47 T A 104335570 3002 18 GCTTTGCTTTCTTCCAGAGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941791 103941792 103941792 upstr_intron -40 -0.6842105 GCTTTGCTTTCTTCCAGAGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 915 2080 0.999097 0.9913712 0.9952341 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.08683906 0.1540655 0.997713 0.8747818 NA 0.1204523 NA FALSE NA 0.004 2.252 NA NA NA HSP90B1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HSP90B1 NA NA NA ENSG00000166598 ENSE00003466608 intron_variant 0.615968 0.4259 0.73128 0.256867 0.7521168 0.0677097 0.9878431 TRUE 8.13008e-06 ENSE00002422605_005 ENSE00002422605 005 12 104335553 104335722 + 57 66 47 C G 104335585 3003 33 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCAGTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941806 103941807 103941807 upstr_intron -25 -0.4210526 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCAGTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant 12 17 1 1 1 794 2618 0.9835094 0.8176218 0.9005656 0.9988174 0.9966087 0.9122579 0.8373058 0.001182575 0.003391344 0.07125151 -0.01968396 0.997713 0.8747818 0.002286959 0.02578377 0.02349681 FALSE FALSE 0 -1.693 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA ACT C,G 8.236e-06 12:103941807 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 0.931309 0.38791 0.35302 0.256867 0.8083044 0.258386 0.9878431 TRUE 4.06474e-06 ENSE00002422605_006 ENSE00002422605 006 12 104335553 104335722 + 57 66 47 G A 104335587 3004 35 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTAAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941808 103941809 103941809 upstr_intron -23 -0.3859649 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTAAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 417 1654 0.9995055 0.9998388 0.9996721 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.08724758 0.162533 0.997713 0.8747818 NA 0.1248903 NA FALSE NA 0.001 0.153 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA TGA G,A 3.295e-05 12:103941809 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 1.228617 0.46475 0.41524 0.283894 0.7303627 0.798707 0.9878431 TRUE 2.43883e-05 ENSE00002422605_007 ENSE00002422605 007 12 104335553 104335722 + 57 66 47 C T 104335594 3005 42 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTTTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941815 103941816 103941816 upstr_intron -16 -0.2631579 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTTTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 73 272 1 0.9987307 0.9993654 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.08774208 0.161425 0.997713 0.8747818 NA 0.1245835 NA FALSE NA 0 -3.25 rs148863192 upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 rs148863192 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0 T:0.0002 TCT C,T 0.0001647 12:103941816 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 1.155254 0.2679 0.10783 0.283894 0.7000833 0.226291 0.9878431 TRUE 0.000219411 ENSE00002422605_008 ENSE00002422605 008 12 104335553 104335722 + 57 66 47 T C 104335598 3006 46 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTCGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941819 103941820 103941820 upstr_intron -12 -0.1929825 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTCGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 219 536 1 0.9994094 0.9997047 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.08774208 0.1621036 0.997713 0.8747818 NA 0.1249229 NA FALSE NA 0.003 0.881 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA TTG T,C 8.236e-06 12:103941820 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 2.490999 0.56479 0.51029 0.283894 0.8977311 0.714864 0.9878431 TRUE 1.625e-05 ENSE00002422605_009 ENSE00002422605 009 12 104335553 104335722 + 57 66 47 T C 104335605 3007 53 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCCGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941826 103941827 103941827 upstr_intron -5 -0.07017544 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCCGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 773 412 0.9164414 0.9952086 0.955825 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.004183468 0.1579028 0.997713 0.8747818 NA 0.08104313 NA FALSE NA 0 -0.308 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 rs565409561 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTG T,C 8.236e-06 12:103941827 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 splice_region_variant 1.442741 0.28144 0.32299 0.283894 0.7369042 0.314627 0.9878431 TRUE 8.12466e-06 ENSE00002422605_010 ENSE00002422605 010 12 104335553 104335722 + 57 66 47 C T 104335645 3008 93 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGTGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941866 103941867 103941867 exon -31 0.5454545 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGTGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 369 302 1 0.9998739 0.9999369 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.08774208 0.1625681 0.997713 0.8747818 NA 0.1251551 NA FALSE NA 0.997 0.37 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 COSM467689 1 NA GCG C,T 6.589e-05 12:103941867 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 synonymous_variant 2.800939 0.89062 0.48172 0.67177 0.6428582 0 0.9878431 TRUE 6.09484e-05 ENSE00002422605_011 ENSE00002422605 011 12 104335553 104335722 + 57 66 47 C T 104335667 3009 115 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAATTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941888 103941889 103941889 exon -9 0.8787879 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAATTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 55 341 1 0.9920314 0.9960157 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.08774208 0.1547256 0.997713 0.8747818 NA 0.1212339 NA FALSE NA 1 1.477 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA ACT C,T 1.647e-05 12:103941889 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 synonymous_variant 1.880842 0.92172 0.83649 0.67177 0.729368 0 0.9878431 TRUE 8.12902e-06 ENSE00002422605_012 ENSE00002422605 012 12 104335553 104335722 + 57 66 47 G A 104335682 3010 130 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTATCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941903 103941904 103941904 downstr_intron 7 1.152174 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTATCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 646 279 0.9916286 1 0.9958143 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.07937068 0.1626942 0.997713 0.8747818 NA 0.1210325 NA FALSE NA 0 -0.198 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA TGT G,A 8.236e-06 12:103941904 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 splice_region_variant 0.98806 0.23887 0.05784 0.075938 0.7656579 0.241243 0.9878431 TRUE 4.06947e-06 ENSE00002422605_013 ENSE00002422605 013 12 104335553 104335722 + 57 66 47 T G 104335687 3011 135 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCGGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941908 103941909 103941909 downstr_intron 12 1.26087 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCGGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 185 1107 0.9864735 0.9709212 0.9786973 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.07421558 0.1336154 0.997713 0.8747818 NA 0.1039155 NA FALSE NA 0 -1.395 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA CTG T,G 8.236e-06 12:103941909 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 0.31176 0.22877 0.15205 0.075938 0.6610199 0.10579 0.9878431 TRUE 4.07159e-06 ENSE00002422605_014 ENSE00002422605 014 12 104335553 104335722 + 57 66 47 G A 104335689 3012 137 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGAGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941910 103941911 103941911 downstr_intron 14 1.304348 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGAGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 118 179 0.9828251 1 0.9914125 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.07056716 0.1626942 0.997713 0.8747818 NA 0.1166307 NA FALSE NA 0.009 0.759 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA GGG G,A 8.236e-06 12:103941911 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 0.36628 0.20854 0.20082 0.075938 0.5549378 0.10579 0.9878431 TRUE 1.62929e-05 ENSE00002422605_015 ENSE00002422605 015 12 104335553 104335722 + 57 66 47 C T 104335697 3013 145 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAATTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941918 103941919 103941919 downstr_intron 22 1.478261 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAATTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 1874 173 0.9237471 0.9870923 0.9554197 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.01148913 0.1497865 0.997713 0.8747818 NA 0.08063782 NA FALSE NA 0 0.319 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 rs371416069 1 NA T:0 T:0.0001 ACT C,T 3.295e-05 12:103941919 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 0.279521 0.25626 0.1926 0.075938 0.6075307 0.10579 0.9878431 TRUE 4.48551e-05 ENSE00002422605_016 ENSE00002422605 016 12 104335553 104335722 + 57 66 47 T G 104335700 3014 148 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCGCCACTTTGCTGTTTGATTGGGG 103941774 103941944 103941921 103941922 103941922 downstr_intron 25 1.543478 GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCGCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG mutant NA NA NA NA NA 94 691 1 0.8345728 0.9172864 0.9988174 0.9966087 0.9122579 0.8373058 NA NA 0.08774208 -0.002732957 0.997713 0.8747818 NA 0.04250456 NA FALSE NA 0 -0.278 . upstream_gene_variant MODIFIER HSP90B1 HGNC 12028 ENST00000550595 1 NA CTC T,G 2.471e-05 12:103941922 HSP90B1 HGNC Symbol protein_coding 23538 ENSG00000166598 ENSE00003466608 intron_variant 0.201205 0.21392 0.02854 0.075938 0.6106922 0.0737573 0.9878431 TRUE 3.67371e-05 ENSE00002422605_BRK ENSE00002422605 BRK 12 104335553 104335722 + 57 66 47 A,G; T,T NA NA NA GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGATTGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGCCAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG 103941774 103941944 NA NA NA NA NA NA GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGATTGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGCCAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG GCTTTGCTTTCTTCCAGTGGTTTTATTGCTCACTGAACTTTCTTTTGCCATCTGAAGGTGGACTCAGATGATCTCCCCTTGAATGTTTCCCGCGAGACTCTTCAGCAACATAAACTGCTTAAGGTAAGTGTCTCTGGGAAGAAACTCTCCACTTTGCTGTTTGATTGGGG control NA NA NA NA NA 247 117 0 0.002746561 0.00137328 0.9988174 0.9966087 0.9122579 0.8373058 NA NA -0.9122579 -0.8345592 0.997713 0.8747818 NA -0.8734086 NA TRUE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA HSP90B1 NA NA NA ENSG00000166598 ENSE00003466608 NA NA NA NA NA NA NA 0.9878431 TRUE NA ENSE00002422632_000 ENSE00002422632 000 2 114503806 114503975 - 48 63 59 NA NA NA NA NA CTAGTCCTACAGTATAATGTAAGTTTCATTGAATTTTGTATCTTGTTATCTGTATTTAGTTTGCAGATGCTGAAGGTTACTTTGCTGCTTGCACAACAGATACAACTATGAATAGTTCTTTGGTAAGTGCTTCTTTTCTTGTCAGGAATAGAGAGGTGGGGTTGAGCCAT 113746228 113746398 NA NA NA NA NA NA CTAGTCCTACAGTATAATGTAAGTTTCATTGAATTTTGTATCTTGTTATCTGTATTTAGTTTGCAGATGCTGAAGGTTACTTTGCTGCTTGCACAACAGATACAACTATGAATAGTTCTTTGGTAAGTGCTTCTTTTCTTGTCAGGAATAGAGAGGTGGGGTTGAGCCAT CTAGTCCTACAGTATAATGTAAGTTTCATTGAATTTTGTATCTTGTTATCTGTATTTAGTTTGCAGATGCTGAAGGTTACTTTGCTGCTTGCACAACAGATACAACTATGAATAGTTCTTTGGTAAGTGCTTCTTTTCTTGTCAGGAATAGAGAGGTGGGGTTGAGCCAT natural NA NA NA NA NA 624 34 1 1 1 NA NA 1 1 NA NA 0 0 NA 1 NA 0 NA FALSE NA NA NA NA NA NA SLC35F5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC35F5 NA NA NA ENSG00000115084 ENSE00003657378 NA NA NA NA NA NA NA 0.001215718 FALSE NA ENSE00002422632_005 ENSE00002422632 005 2 114503806 114503975 - 48 63 59 A T 114503834 2461 142 CTAGTCCTACAGTATAATGTAAGTTTCATTGAATTTTGTATCTTGTTATCTGTATTTAGTTTGCAGATGCTGAAGGTTACTTTGCTGCTTGCACAACAGATACAACTATGAATAGTTCTTTGGTAAGTGCTTCTTTTCTTGACAGGAATAGAGAGGTGGGGTTGAGCCAT 113746228 113746398 113746256 113746257 113746257 downstr_intron 20 1.425532 CTAGTCCTACAGTATAATGTAAGTTTCATTGAATTTTGTATCTTGTTATCTGTATTTAGTTTGCAGATGCTGAAGGTTACTTTGCTGCTTGCACAACAGATACAACTATGAATAGTTCTTTGGTAAGTGCTTCTTTTCTTGACAGGAATAGAGAGGTGGGGTTGAGCCAT CTAGTCCTACAGTATAATGTAAGTTTCATTGAATTTTGTATCTTGTTATCTGTATTTAGTTTGCAGATGCTGAAGGTTACTTTGCTGCTTGCACAACAGATACAACTATGAATAGTTCTTTGGTAAGTGCTTCTTTTCTTGTCAGGAATAGAGAGGTGGGGTTGAGCCAT mutant NA NA NA NA NA 594 123 0.9970533 1 0.9985267 NA NA 1 1 NA NA -0.00294669 0 NA 1 NA -0.001473345 NA FALSE NA 0 0.172 . intron_variant&NMD_transcript_variant MODIFIER SLC35F5 HGNC 23617 ENST00000409106 5/16 1 NA GAC A,T 8.237e-06 2:113746257 SLC35F5 HGNC Symbol protein_coding 51812 ENSG00000115084 ENSE00003657378 intron_variant 0.177968 0.17718 0.01071 0.156188 0.5925081 0.0454808 0.001215718 FALSE NA ENSE00002422763_000 ENSE00002422763 000 1 211534377 211534546 + 53 75 42 NA NA NA NA NA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 NA NA NA NA NA NA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA natural 114 126 0.9309677 0.9698184 0.9503931 7337 4073 0.9466606 0.8494046 0.8980326 0.9309677 0.9698184 0.9466606 0.8494046 0 0 0 0 0.9503931 0.8980326 0 0 0 FALSE FALSE NA NA NA NA NA TRAF5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF5 NA NA NA ENSG00000082512 ENSE00003583931 NA NA NA NA NA NA NA 8.829041e-06 FALSE NA ENSE00002422763_001 ENSE00002422763 001 1 211534377 211534546 + 53 75 42 T C 211534388 5009 12 CAGTTGGAGAACAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361045 211361046 211361046 upstr_intron -42 -0.7735849 CAGTTGGAGAACAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 105 829 0.9745707 0.9777074 0.9761391 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.02791016 0.1283028 0.9503931 0.8980326 NA 0.07810647 NA FALSE NA 0 -0.025 . intron_variant MODIFIER TRAF5 HGNC 12035 ENST00000367004 6/10 1 NA ATA T,C 8.236e-06 1:211361046 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant 0.181538 0.17962 0.05913 0.295142 0.3935318 0.0682425 8.829041e-06 FALSE 4.07342e-06 ENSE00002422763_002 ENSE00002422763 002 1 211534377 211534546 + 53 75 42 A G 211534404 5010 28 CAGTTGGAGAATAAGTGATGAATTTCTGTAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361061 211361062 211361062 upstr_intron -26 -0.4716981 CAGTTGGAGAATAAGTGATGAATTTCTGTAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 1263 1249 0.8088447 0.8067163 0.8077805 0.9309677 0.9698184 0.9466606 0.8494046 NA NA -0.1378158 -0.04268832 0.9503931 0.8980326 NA -0.09025208 NA FALSE NA 0 -1.079 . intron_variant MODIFIER TRAF5 HGNC 12035 ENST00000367004 6/10 rs370725672 1 NA G:0 G:0.0001 TAT A,G 3.295e-05 1:211361062 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant 0.089689 0.13207 0.01799 0.156188 0.5534025 0.0682425 8.829041e-06 FALSE 1.22045e-05 ENSE00002422763_003 ENSE00002422763 003 1 211534377 211534546 + 53 75 42 T C 211534405 5011 29 CAGTTGGAGAATAAGTGATGAATTTCTACAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361062 211361063 211361063 upstr_intron -25 -0.4528302 CAGTTGGAGAATAAGTGATGAATTTCTACAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 63 312 1 0.9963824 0.9981912 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.05333944 0.1469777 0.9503931 0.8980326 NA 0.1001586 NA FALSE NA 0 0.284 . intron_variant MODIFIER TRAF5 HGNC 12035 ENST00000367004 6/10 1 NA ATA T,C 8.236e-06 1:211361063 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant 0.063555 0.2136 0.06751 0.156188 0.575569 0.0682425 8.829041e-06 FALSE 8.13524e-06 ENSE00002422763_004 ENSE00002422763 004 1 211534377 211534546 + 53 75 42 G C 211534411 5012 35 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTCTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361068 211361069 211361069 upstr_intron -19 -0.3396226 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTCTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 25 84 0.9841117 0.9905275 0.9873196 303 496 0.9820568 1 0.9910284 0.9309677 0.9698184 0.9466606 0.8494046 0.05314397 0.02070907 0.0353962 0.1505954 0.9503931 0.8980326 0.03692652 0.09299579 0.05606927 FALSE FALSE 0 -0.143 . intron_variant MODIFIER TRAF5 HGNC 12035 ENST00000367004 6/10 1 NA TGT G,C 6.589e-05 1:211361069 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant -0.348447 0.23176 0.0794 0.295142 0.4689149 0.0682425 8.829041e-06 FALSE 6.0991e-05 ENSE00002422763_005 ENSE00002422763 005 1 211534377 211534546 + 53 75 42 C T 211534420 5013 44 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCTATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361077 211361078 211361078 upstr_intron -10 -0.1698113 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCTATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 475 297 0.8291933 0.9998718 0.9145325 0.9309677 0.9698184 0.9466606 0.8494046 NA NA -0.1174673 0.1504671 0.9503931 0.8980326 NA 0.01649994 NA FALSE NA 0 -1.719 . intron_variant MODIFIER TRAF5 HGNC 12035 ENST00000367004 6/10 1 NA CCA C,T 1.647e-05 1:211361078 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant 0.260912 0.19042 0.02345 0.295142 0.4587646 0.171966 8.829041e-06 FALSE 8.13074e-06 ENSE00002422763_006 ENSE00002422763 006 1 211534377 211534546 + 53 75 42 T C 211534422 5014 46 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCACTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361079 211361080 211361080 upstr_intron -8 -0.1320755 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCACTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 20 11 0.85 0.85 0.85 236 1791 0.8092525 0.800666 0.8049593 0.9309677 0.9698184 0.9466606 0.8494046 -0.08096773 -0.1198184 -0.1374081 -0.04873861 0.9503931 0.8980326 -0.1003931 -0.09307334 0.007319718 FALSE FALSE 0.79 2.851 . splice_region_variant&intron_variant LOW TRAF5 HGNC 12035 ENST00000367004 6/10 1 NA ATT T,C 4.118e-05 1:211361080 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 splice_region_variant 0.138252 0.61275 0.75867 0.295142 0.6036658 0.674752 8.829041e-06 FALSE 2.84567e-05 ENSE00002422763_007 ENSE00002422763 007 1 211534377 211534546 + 53 75 42 C T 211534425 5015 49 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTTGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361082 211361083 211361083 upstr_intron -5 -0.0754717 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTTGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 1078 337 0.8628452 0.9993034 0.9310743 0.9309677 0.9698184 0.9466606 0.8494046 NA NA -0.08381541 0.1498988 0.9503931 0.8980326 NA 0.0330417 NA FALSE NA 0 -1.513 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:211361083 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 splice_region_variant 0.72366 0.18159 0.00671 0.295142 0.4917101 0.220608 8.829041e-06 FALSE 5.69161e-05 ENSE00002422763_008 ENSE00002422763 008 1 211534377 211534546 + 53 75 42 C G 211534425 5016 49 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTGGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361082 211361083 211361083 upstr_intron -5 -0.0754717 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTGGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 182 157 0 0 0 NA NA NA NA NA 0.9309677 0.9698184 0.9466606 0.8494046 -0.9309677 -0.9698184 NA NA 0.9503931 0.8980326 -0.9503931 NA NA NA TRUE 0 -1.513 NA NA NA TRAF5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF5 NA NA NA ENSG00000082512 ENSE00003583931 splice_region_variant 0.443821 0.20848 0.0507 0.295142 0.5191739 0.220608 8.829041e-06 FALSE 1.21963e-05 ENSE00002422763_009 ENSE00002422763 009 1 211534377 211534546 + 53 75 42 G A 211534426 5017 50 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCATAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361083 211361084 211361084 upstr_intron -4 -0.05660377 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCATAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 37 41 0.85 0.85 0.85 2985 1330 0.9546525 0.949221 0.9519368 0.9309677 0.9698184 0.9466606 0.8494046 -0.08096773 -0.1198184 0.007991959 0.09981642 0.9503931 0.8980326 -0.1003931 0.05390419 0.1542972 FALSE FALSE 0 0.066 . splice_region_variant&intron_variant LOW TRAF5 HGNC 12035 ENST00000367004 6/10 1 NA CGT G,A 8.236e-06 1:211361084 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 splice_region_variant 0.006761 0.18148 0.02855 0.295142 0.6751311 0.157936 8.829041e-06 FALSE 8.13121e-06 ENSE00002422763_010 ENSE00002422763 010 1 211534377 211534546 + 53 75 42 T C 211534431 5018 55 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGCAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361088 211361089 211361089 exon 2 0.02666667 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGCAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 298 325 0.85 0.85 0.85 961 1126 0.942791 0.9381329 0.9404619 0.9309677 0.9698184 0.9466606 0.8494046 -0.08096773 -0.1198184 -0.003869572 0.08872827 0.9503931 0.8980326 -0.1003931 0.04242935 0.1428224 FALSE FALSE 1 2.381 . missense_variant&splice_region_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 1 deleterious(0.05) benign(0.04) NA GTA T,C 8.237e-06 1:211361089 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 2.271779 0.98019 0.85467 0.706548 0.9877728 0 8.829041e-06 FALSE 4.06567e-06 ENSE00002422763_011 ENSE00002422763 011 1 211534377 211534546 + 53 75 42 A G 211534434 5019 58 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGGTGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361091 211361092 211361092 exon 5 0.06666667 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGGTGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 1624 31 0.7352749 0.6780111 0.706643 0.9309677 0.9698184 0.9466606 0.8494046 NA NA -0.2113857 -0.1713935 0.9503931 0.8980326 NA -0.1913896 NA FALSE NA 1 2.932 . missense_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 rs540788952 1 tolerated(0.14) benign(0.174) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GAT A,G 8.237e-06 1:211361092 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 2.386005 0.97999 0.90801 0.706548 0.9859641 0 8.829041e-06 FALSE 8.13127e-06 ENSE00002422763_012 ENSE00002422763 012 1 211534377 211534546 + 53 75 42 G A 211534445 5020 69 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGACTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361102 211361103 211361103 exon 16 0.2133333 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGACTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 94 318 0.8142018 0.85 0.8321009 412 21 0.8854792 0.9530821 0.9192806 0.9309677 0.9698184 0.9466606 0.8494046 -0.1167659 -0.1198184 -0.0611814 0.1036775 0.9503931 0.8980326 -0.1182922 0.02124805 0.1395402 FALSE FALSE 0.004 0.166 . missense_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 rs200289585 1 tolerated(0.61) benign(0.009) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 GGC G,A 8.236e-06 1:211361103 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 1.008403 0.2111 0.04092 0.706548 0.7161363 0 8.829041e-06 FALSE 8.13213e-06 ENSE00002422763_013 ENSE00002422763 013 1 211534377 211534546 + 53 75 42 C A 211534446 5021 70 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGATGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361103 211361104 211361104 exon 17 0.2266667 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGATGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 1043 221 0.9841535 0.9722276 0.9781906 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.03749299 0.122823 0.9503931 0.8980326 NA 0.08015799 NA FALSE NA 0.035 0.205 . missense_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 rs377012367 1 tolerated(0.41) benign(0.388) NA A:0 A:0.0001 GCT C,A 8.236e-06 1:211361104 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 2.080342 0.30089 0.10994 0.706548 0.9739614 0 8.829041e-06 FALSE 4.06593e-06 ENSE00002422763_014 ENSE00002422763 014 1 211534377 211534546 + 53 75 42 G A 211534452 5022 76 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATATCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361109 211361110 211361110 exon 23 0.3066667 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATATCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 480 93 0.982578 0.9607228 0.9716504 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.03591746 0.1113182 0.9503931 0.8980326 NA 0.07361783 NA FALSE NA 1 5.903 . missense_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 rs370068812 1 deleterious(0) probably_damaging(0.997) NA A:0.0002 A:0 TGT G,A 1.647e-05 1:211361110 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 6.442371 0.99025 0.96699 0.706548 0.9979258 0 8.829041e-06 FALSE 4.066e-06 ENSE00002422763_015 ENSE00002422763 015 1 211534377 211534546 + 53 75 42 T C 211534456 5023 80 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCCGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361113 211361114 211361114 exon 27 0.36 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCCGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 157 1051 0.977584 0.963477 0.9705305 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.03092342 0.1140724 0.9503931 0.8980326 NA 0.07249789 NA FALSE NA 0.625 -0.789 . synonymous_variant LOW TRAF5 HGNC 12035 ENST00000367004 7/11 1 NA CTG T,C 2.471e-05 1:211361114 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 synonymous_variant 0.611625 0.96324 0.36361 0.706548 0.7474994 0 8.829041e-06 FALSE 4.47314e-05 ENSE00002422763_016 ENSE00002422763 016 1 211534377 211534546 + 53 75 42 G T 211534465 5024 89 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGATCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361122 211361123 211361123 exon 36 0.48 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGATCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 97 40 0.9821492 1 0.9910746 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.03548869 0.1505954 0.9503931 0.8980326 NA 0.09304203 NA FALSE NA 0.51 -0.411 . missense_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 1 tolerated(0.08) possibly_damaging(0.827) NA AGC G,T 3.295e-05 1:211361123 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 3.573887 0.96019 0.29761 0.706548 0.9970404 0 8.829041e-06 FALSE 2.84662e-05 ENSE00002422763_017 ENSE00002422763 017 1 211534377 211534546 + 53 75 42 G A 211534473 5025 97 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTATCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361130 211361131 211361131 exon -32 0.5866667 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTATCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 334 161 0.9835676 0.9925784 0.988073 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.03690703 0.1431737 0.9503931 0.8980326 NA 0.09004039 NA FALSE NA 1 5.903 . missense_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 1 deleterious(0) probably_damaging(0.975) NA TGT G,A 3.295e-05 1:211361131 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 6.329208 0.99025 0.96699 0.706548 0.9979444 0 8.829041e-06 FALSE 2.44016e-05 ENSE00002422763_018 ENSE00002422763 018 1 211534377 211534546 + 53 75 42 T C 211534479 5026 103 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTCTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361136 211361137 211361137 exon -26 0.6666667 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTCTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 20 17 1 1 1 1030 1151 0.9774986 0.9999669 0.9887328 0.9309677 0.9698184 0.9466606 0.8494046 0.06903227 0.03018162 0.03083805 0.1505623 0.9503931 0.8980326 0.04960695 0.09070018 0.04109324 FALSE FALSE 0.983 2.442 . missense_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 1 deleterious(0) probably_damaging(0.911) NA TTT T,C 8.236e-06 1:211361137 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 6.087217 0.9759 0.79622 0.706548 0.9985732 0 8.829041e-06 FALSE 4.06706e-06 ENSE00002422763_019 ENSE00002422763 019 1 211534377 211534546 + 53 75 42 T C 211534489 5027 113 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTACGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361146 211361147 211361147 exon -16 0.8 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTACGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 1297 107 0.9982493 0.9956145 0.9969319 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.05158879 0.1462099 0.9503931 0.8980326 NA 0.09889933 NA FALSE NA 0.995 0.02 rs145765066 synonymous_variant LOW TRAF5 HGNC 12035 ENST00000367004 7/11 rs145765066 1 NA C:0 C:0.0001 ATG T,C 2.471e-05 1:211361147 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 synonymous_variant 0.043567 0.96962 0.66122 0.706548 0.547996 0 8.829041e-06 FALSE 8.13458e-06 ENSE00002422763_020 ENSE00002422763 020 1 211534377 211534546 + 53 75 42 G A 211534499 5028 123 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTATAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361156 211361157 211361157 exon -6 0.9333333 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTATAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 718 587 0.9926687 0.9997305 0.9961996 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.04600818 0.1503259 0.9503931 0.8980326 NA 0.09816702 NA FALSE NA 0.892 1.824 . missense_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 rs374585053 1 tolerated(0.29) benign(0.032) NA A:0.0002 A:0 TGT G,A 1.647e-05 1:211361157 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 0.278004 0.45774 0.58429 0.706548 0.876024 0 8.829041e-06 FALSE 1.22043e-05 ENSE00002422763_021 ENSE00002422763 021 1 211534377 211534546 + 53 75 42 C T 211534503 5029 127 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAATGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361160 211361161 211361161 exon -2 0.9866667 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAATGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 61 113 0.85 0.85 0.85 119 98 0.8789749 0.8029488 0.8409618 0.9309677 0.9698184 0.9466606 0.8494046 -0.08096773 -0.1198184 -0.06768568 -0.04645582 0.9503931 0.8980326 -0.1003931 -0.05707075 0.0433223 FALSE FALSE 0.995 1.101 rs113925874 missense_variant&splice_region_variant MODERATE TRAF5 HGNC 12035 ENST00000367004 7/11 rs113925874&COSM1338620 1 tolerated(0.09) benign(0.002) NA T:0 T:0.0002 ACG C,T 7.413e-05 1:211361161 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 missense_variant 1.260001 0.95688 0.51861 0.706548 0.6975403 0 8.829041e-06 FALSE 0.000109838 ENSE00002422763_022 ENSE00002422763 022 1 211534377 211534546 + 53 75 42 G A 211534504 5030 128 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACAGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361161 211361162 211361162 exon -1 1 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACAGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 1142 186 0 0 0 266 741 0.007411797 0.001176914 0.004294355 0.9309677 0.9698184 0.9466606 0.8494046 -0.9309677 -0.9698184 -0.9392488 -0.8482277 0.9503931 0.8980326 -0.9503931 -0.8937382 0.05665482 TRUE TRUE 1 5.903 . splice_region_variant&synonymous_variant LOW TRAF5 HGNC 12035 ENST00000367004 7/11 1 NA CGG G,A 4.118e-05 1:211361162 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 splice_region_variant 1.595428 0.99025 0.96699 0.706548 0.8927134 0 8.829041e-06 FALSE 6.50952e-05 ENSE00002422763_023 ENSE00002422763 023 1 211534377 211534546 + 53 75 42 T C 211534520 5031 144 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTCTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 211361177 211361178 211361178 downstr_intron 16 1.390244 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTCTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant NA NA NA NA NA 761 756 0.9508726 0.9585864 0.9547295 0.9309677 0.9698184 0.9466606 0.8494046 NA NA 0.004211999 0.1091818 0.9503931 0.8980326 NA 0.05669689 NA FALSE NA 0.002 0.082 . intron_variant MODIFIER TRAF5 HGNC 12035 ENST00000367004 7/10 1 NA TTT T,C 8.237e-06 1:211361178 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant 0.434834 0.22538 0.09896 0.062308 0.6813537 0.0673029 8.829041e-06 FALSE 4.06888e-06 ENSE00002422763_024 ENSE00002422763 024 1 211534377 211534546 + 53 75 42 C T 211534530 5032 154 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCTTATACATTCTACTGTA 211361034 211361204 211361187 211361188 211361188 downstr_intron 26 1.634146 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCTTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 14 39 0.9941577 0.9720322 0.9830949 691 150 0.9970456 1 0.9985228 0.9309677 0.9698184 0.9466606 0.8494046 0.06318999 0.002213779 0.05038504 0.1505954 0.9503931 0.8980326 0.03270188 0.1004902 0.06778833 FALSE FALSE 0 -0.116 . intron_variant MODIFIER TRAF5 HGNC 12035 ENST00000367004 7/10 1 NA CCT C,T 0.0001072 1:211361188 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant 0.280614 0.21285 0.07933 0.099367 0.6885121 0.0673029 8.829041e-06 FALSE 6.53253e-05 ENSE00002422763_025 ENSE00002422763 025 1 211534377 211534546 + 53 75 42 A C 211534532 5033 156 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTCTACATTCTACTGTA 211361034 211361204 211361189 211361190 211361190 downstr_intron 28 1.682927 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTCTACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 139 235 0.817795 0.8079384 0.8128667 520 133 0.9452062 0.9295589 0.9373826 0.9309677 0.9698184 0.9466606 0.8494046 -0.1131728 -0.1618799 -0.001454311 0.08015431 0.9503931 0.8980326 -0.1375264 0.03935 0.1768764 FALSE FALSE 0 0.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:211361190 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant -0.051921 0.08792 4e-04 0.099367 0.5421249 0.0673029 8.829041e-06 FALSE 4.07312e-06 ENSE00002422763_026 ENSE00002422763 026 1 211534377 211534546 + 53 75 42 A G 211534532 5034 156 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTGTACATTCTACTGTA 211361034 211361204 211361189 211361190 211361190 downstr_intron 28 1.682927 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTGTACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 48 64 0.85 0.85 0.85 625 322 0.9490895 0.9564361 0.9527628 0.9309677 0.9698184 0.9466606 0.8494046 -0.08096773 -0.1198184 0.002428916 0.1070315 0.9503931 0.8980326 -0.1003931 0.05473019 0.1551232 FALSE FALSE 0 0.11 NA NA NA TRAF5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF5 NA NA NA ENSG00000082512 ENSE00003583931 intron_variant 0.119493 0.21636 0.02072 0.099367 0.4873141 0.0673029 8.829041e-06 FALSE 4.07312e-06 ENSE00002422763_027 ENSE00002422763 027 1 211534377 211534546 + 53 75 42 A G 211534536 5035 160 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACGTTCTACTGTA 211361034 211361204 211361193 211361194 211361194 downstr_intron 32 1.780488 CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACGTTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA mutant 63 98 0.85 0.85 0.85 143 862 0.9823516 0.9697631 0.9760573 0.9309677 0.9698184 0.9466606 0.8494046 -0.08096773 -0.1198184 0.03569102 0.1203585 0.9503931 0.8980326 -0.1003931 0.07802475 0.1784178 FALSE FALSE 0 -1.152 . intron_variant MODIFIER TRAF5 HGNC 12035 ENST00000367004 7/10 1 NA CAT A,G 2.471e-05 1:211361194 TRAF5 HGNC Symbol protein_coding 48331 ENSG00000082512 ENSE00003583931 intron_variant 0.145292 0.14393 0.01615 0.099367 0.2820576 0.0673029 8.829041e-06 FALSE 2.85521e-05 ENSE00002422763_BRK ENSE00002422763 BRK 1 211534377 211534546 + 53 75 42 A,G; T,T NA NA NA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTTTGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGCCATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA 211361034 211361204 NA NA NA NA NA NA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTTTGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGCCATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA CAGTTGGAGAATAAGTGATGAATTTCTATAGCTTGTGACTATCCATTTCGTAGGTAGATGAACACCTGGCTGTATGTCCTGAAGCTGAGCAAGACTGTCCTTTTAAGCACTATGGCTGTGCTGTAACGGTATGGAATGACTTTTTGTTTCTGCCTATACATTCTACTGTA control 83 46 0 0.1026138 0.05130688 510 729 0.0232752 0 0.0116376 0.9309677 0.9698184 0.9466606 0.8494046 -0.9309677 -0.8672046 -0.9233854 -0.8494046 0.9503931 0.8980326 -0.8990862 -0.886395 0.01269119 TRUE TRUE NA NA NA NA NA TRAF5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TRAF5 NA NA NA ENSG00000082512 ENSE00003583931 NA NA NA NA NA NA NA 8.829041e-06 FALSE NA ENSE00002423541_000 ENSE00002423541 000 2 65231028 65231197 + 59 63 48 NA NA NA NA NA GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 NA NA NA NA NA NA CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC natural NA NA NA NA NA 2917 4871 0.8192096 0.9710189 0.8951143 NA NA 0.8192096 0.9710189 NA NA 0 0 NA 0.8951143 NA 0 NA FALSE NA NA NA NA NA NA SLC1A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC1A4 NA NA NA ENSG00000115902 ENSE00003653715 NA NA NA NA NA NA NA 0.2428977 FALSE NA ENSE00002423541_001 ENSE00002423541 001 2 65231028 65231197 + 59 63 48 G C 65231038 1317 11 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGAGCGACCTAGAG 65003893 65004063 65003903 65003904 65003904 upstr_intron -49 -0.8135593 CTCTAGGTCGCTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 83 204 1 1 1 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.02898113 NA 0.8951143 NA 0.1048857 NA FALSE NA 0 0.611 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 2/4 1 NA GGT G,C 8.237e-06 2:65003904 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant -0.175968 0.24782 0.11936 0.256867 0.5920233 0.157998 0.2428977 FALSE 4.14247e-06 ENSE00002423541_002 ENSE00002423541 002 2 65231028 65231197 + 59 63 48 C T 65231043 1318 16 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTAAAGACCGACCTAGAG 65003893 65004063 65003908 65003909 65003909 upstr_intron -44 -0.7288136 CTCTAGGTCGGTCTTTACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 56 271 1 0.9991529 0.9995765 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.02813407 NA 0.8951143 NA 0.1044622 NA FALSE NA 0 -3.691 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 2/4 1 NA TCA C,T 8.238e-06 2:65003909 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.655973 0.10477 0.00628 0.256867 0.7788009 0.256199 0.2428977 FALSE 4.1447e-06 ENSE00002423541_003 ENSE00002423541 003 2 65231028 65231197 + 59 63 48 C A 65231051 1319 24 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTTCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003916 65003917 65003917 upstr_intron -36 -0.5932203 CTCTAGGTCGGTCTTCACCTGTGAACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 80 497 0.996872 1 0.998436 NA NA 0.8192096 0.9710189 NA NA 0.1776624 0.02898113 NA 0.8951143 NA 0.1033217 NA FALSE NA 0.25 0.761 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:65003917 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 1.280331 0.85128 0.0816 0.256867 0.8668024 0.265201 0.2428977 FALSE 3.79523e-05 ENSE00002423541_004 ENSE00002423541 004 2 65231028 65231197 + 59 63 48 C T 65231051 1320 24 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTACACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003916 65003917 65003917 upstr_intron -36 -0.5932203 CTCTAGGTCGGTCTTCACCTGTGTACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 88 1045 1 0.9975221 0.998761 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.02650318 NA 0.8951143 NA 0.1036468 NA FALSE NA 0.25 0.761 NA NA NA SLC1A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC1A4 NA NA NA ENSG00000115902 ENSE00003653715 intron_variant 1.247191 0.87963 0.52596 0.256867 0.8094449 0.265201 0.2428977 FALSE 4.21692e-06 ENSE00002423541_005 ENSE00002423541 005 2 65231028 65231197 + 59 63 48 C T 65231053 1321 26 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAATGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003918 65003919 65003919 upstr_intron -34 -0.559322 CTCTAGGTCGGTCTTCACCTGTGCATTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 714 118 0.9954142 1 0.9977071 NA NA 0.8192096 0.9710189 NA NA 0.1762045 0.02898113 NA 0.8951143 NA 0.1025928 NA FALSE NA 1 2.068 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 2/4 1 NA ACT C,T 8.254e-06 2:65003919 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 1.354917 0.94645 0.74129 0.256867 0.8078989 0.311199 0.2428977 FALSE NA ENSE00002423541_006 ENSE00002423541 006 2 65231028 65231197 + 59 63 48 A G 65231058 1322 31 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACCGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003923 65003924 65003924 upstr_intron -29 -0.4745763 CTCTAGGTCGGTCTTCACCTGTGCACTAACGGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 823 1719 0.9632043 0.9994223 0.9813133 NA NA 0.8192096 0.9710189 NA NA 0.1439947 0.02840343 NA 0.8951143 NA 0.08619906 NA FALSE NA 0 -1.039 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 2/4 1 NA CAG A,G 1.664e-05 2:65003924 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.686673 0.14487 0.01098 0.256867 0.6662571 0.226196 0.2428977 FALSE 3.91665e-05 ENSE00002423541_007 ENSE00002423541 007 2 65231028 65231197 + 59 63 48 T G 65231064 1323 37 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAACCCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003929 65003930 65003930 upstr_intron -23 -0.3728814 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGGTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 2505 22 0.9658019 0.9908543 0.9783281 NA NA 0.8192096 0.9710189 NA NA 0.1465922 0.01983539 NA 0.8951143 NA 0.0832138 NA FALSE NA 0.028 0.984 rs62140370 intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 2/4 rs35470885&rs62140370 1 -:0.1665 -:0.0318 -:0.2003 NA -:0.0962 -:0.3141 -:0.2454 GTT T,G 7.166e-05 2:65003930 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.622507 0.13189 0.01888 0.256867 0.663614 0.159612 0.2428977 FALSE 4.71981e-05 ENSE00002423541_008 ENSE00002423541 008 2 65231028 65231197 + 59 63 48 T G 65231068 1324 41 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAACAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003933 65003934 65003934 upstr_intron -19 -0.3050847 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTGTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 22 18 1 1 1 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.02898113 NA 0.8951143 NA 0.1048857 NA FALSE NA 0 -0.383 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 2/4 1 NA TTT T,G 8.236e-06 2:65003934 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.251596 0.20223 0.06897 0.256867 0.6191548 0.189234 0.2428977 FALSE 4.06511e-06 ENSE00002423541_009 ENSE00002423541 009 2 65231028 65231197 + 59 63 48 T C 65231069 1325 42 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAGAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003934 65003935 65003935 upstr_intron -18 -0.2881356 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTCTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 1906 2125 0.9840048 0.971374 0.9776894 NA NA 0.8192096 0.9710189 NA NA 0.1647952 0.0003550925 NA 0.8951143 NA 0.08257512 NA FALSE NA 0 0.166 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 2/4 1 NA TTT T,C 8.236e-06 2:65003935 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.344646 0.14422 0.05646 0.256867 0.7026145 0.189234 0.2428977 FALSE 4.06448e-06 ENSE00002423541_010 ENSE00002423541 010 2 65231028 65231197 + 59 63 48 T C 65231072 1326 45 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGGAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003937 65003938 65003938 upstr_intron -15 -0.2372881 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTCCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 354 131 0.9880891 0.997041 0.992565 NA NA 0.8192096 0.9710189 NA NA 0.1688795 0.02602209 NA 0.8951143 NA 0.09745078 NA FALSE NA 0.014 1.066 rs74825166 intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 2/4 rs74825166 1 NA TTC T,C 6.589e-05 2:65003938 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.646459 0.23664 0.16681 0.256867 0.7735233 0.189234 0.2428977 FALSE NA ENSE00002423541_011 ENSE00002423541 011 2 65231028 65231197 + 59 63 48 C T 65231095 1327 68 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCAGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003960 65003961 65003961 exon 9 0.1428571 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACTGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 1177 633 0.9971123 0.9992582 0.9981853 NA NA 0.8192096 0.9710189 NA NA 0.1779027 0.02823935 NA 0.8951143 NA 0.103071 NA FALSE NA 0 -1.899 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/5 1 NA CCG C,T 8.236e-06 2:65003961 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 synonymous_variant 1.598282 0.12377 0.01267 0.67177 0.4884607 0 0.2428977 FALSE 1.21846e-05 ENSE00002423541_012 ENSE00002423541 012 2 65231028 65231197 + 59 63 48 G A 65231096 1328 69 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATTGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003961 65003962 65003962 exon 10 0.1587302 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCAATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 162 61 0.9969111 1 0.9984556 NA NA 0.8192096 0.9710189 NA NA 0.1777015 0.02898113 NA 0.8951143 NA 0.1033413 NA FALSE NA 0 0.383 rs140402535 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/5 rs140402535 1 NA A:0.0002 A:0.0001 CGA G,A 5.765e-05 2:65003962 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 missense_variant 1.479508 0.37923 0.08765 0.67177 0.9376625 0 0.2428977 FALSE 0.000101543 ENSE00002423541_013 ENSE00002423541 013 2 65231028 65231197 + 59 63 48 A G 65231102 1329 75 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTCATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003967 65003968 65003968 exon 16 0.2539683 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATGAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 386 2983 0.8253912 0.995671 0.9105311 NA NA 0.8192096 0.9710189 NA NA 0.006181545 0.02465216 NA 0.8951143 NA 0.01541685 NA FALSE NA 0.003 2.103 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/5 1 NA TAA A,G 8.236e-06 2:65003968 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 missense_variant -0.455497 0.2266 0.18523 0.67177 0.5711449 0 0.2428977 FALSE 1.21843e-05 ENSE00002423541_014 ENSE00002423541 014 2 65231028 65231197 + 59 63 48 T C 65231106 1330 79 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGGCTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003971 65003972 65003972 exon 20 0.3174603 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGCCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 363 51 0.9996594 1 0.9998297 NA NA 0.8192096 0.9710189 NA NA 0.1804497 0.02898113 NA 0.8951143 NA 0.1047154 NA FALSE NA 0 0.462 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/5 1 NA GTC T,C 8.236e-06 2:65003972 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 missense_variant -0.073307 0.19959 0.08895 0.67177 0.7856239 0 0.2428977 FALSE 1.21842e-05 ENSE00002423541_015 ENSE00002423541 015 2 65231028 65231197 + 59 63 48 C T 65231107 1331 80 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACAACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003972 65003973 65003973 exon 21 0.3333333 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTTGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 255 41 1 1 1 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.02898113 NA 0.8951143 NA 0.1048857 NA FALSE NA 0 -0.218 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/5 1 NA TCG C,T 4.942e-05 2:65003973 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 synonymous_variant 1.61543 0.16475 0.03084 0.67177 0.6356933 0 0.2428977 FALSE 5.28e-05 ENSE00002423541_016 ENSE00002423541 016 2 65231028 65231197 + 59 63 48 G A 65231108 1332 81 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCATGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003973 65003974 65003974 exon 22 0.3492063 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCATGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 433 104 0.8121737 0.9840701 0.8981219 NA NA 0.8192096 0.9710189 NA NA -0.007035905 0.01305123 NA 0.8951143 NA 0.003007662 NA FALSE NA 0 0.004 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/5 1 NA CGT G,A 8.236e-06 2:65003974 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 missense_variant 0.786485 0.20586 0.06086 0.67177 0.9869983 0 0.2428977 FALSE 8.12315e-06 ENSE00002423541_017 ENSE00002423541 017 2 65231028 65231197 + 59 63 48 G A 65231116 1333 89 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTTTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003981 65003982 65003982 exon 30 0.4761905 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAAAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 90 101 1 0.9891325 0.9945662 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.01811362 NA 0.8951143 NA 0.09945199 NA FALSE NA 0.912 0.142 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/5 1 NA AGA G,A 8.236e-06 2:65003982 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 synonymous_variant 0.394443 0.22183 0.05872 0.67177 0.4834936 0 0.2428977 FALSE 1.21849e-05 ENSE00002423541_018 ENSE00002423541 018 2 65231028 65231197 + 59 63 48 C G 65231119 1334 92 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTCTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65003984 65003985 65003985 exon -31 0.5238095 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAAGAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 215 173 1 1 1 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.02898113 NA 0.8951143 NA 0.1048857 NA FALSE NA 0.998 0.19 NA NA NA SLC1A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:65003985 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 missense_variant 3.361651 0.98313 0.87932 0.67177 0.9958398 0 0.2428977 FALSE 1.62459e-05 ENSE00002423541_020 ENSE00002423541 020 2 65231028 65231197 + 59 63 48 T C 65231136 1336 109 GATTTGTTTTAGACATATTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTGCATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65004001 65004002 65004002 exon -14 0.7936508 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGCAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 489 679 1 1 1 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.02898113 NA 0.8951143 NA 0.1048857 NA FALSE NA 0.01 2.134 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/5 rs374727787 1 NA C:0 C:0.0002 GTA T,C 1.647e-05 2:65004002 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 missense_variant 1.648748 0.45856 0.28274 0.67177 0.9778801 0 0.2428977 FALSE 4.0618e-06 ENSE00002423541_022 ENSE00002423541 022 2 65231028 65231197 + 59 63 48 T G 65231163 1338 136 GATTTGTTTTAGACATATTTTTACAAGTGACCTTCTAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65004028 65004029 65004029 downstr_intron 14 1.297872 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTAGAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 836 19 1 0.8 0.9 NA NA 0.8192096 0.9710189 NA NA 0.1807904 -0.1710189 NA 0.8951143 NA 0.004885741 NA FALSE NA 0 -0.015 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/4 1 NA ATA T,G 8.236e-06 2:65004029 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.789613 0.17117 0.02199 0.069865 0.5364256 0.101149 0.2428977 FALSE 4.06716e-06 ENSE00002423541_023 ENSE00002423541 023 2 65231028 65231197 + 59 63 48 A G 65231176 1339 149 GATTTGTTTTAGACATATTTTCACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65004041 65004042 65004042 downstr_intron 27 1.574468 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTGAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 311 517 1 1 1 NA NA 0.8192096 0.9710189 NA NA 0.1807904 0.02898113 NA 0.8951143 NA 0.1048857 NA FALSE NA 0 0.107 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/4 1 NA TAA A,G 8.237e-06 2:65004042 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.761589 0.18448 0.05265 0.069865 0.6999414 0.0856336 0.2428977 FALSE 4.08123e-06 ENSE00002423541_024 ENSE00002423541 024 2 65231028 65231197 + 59 63 48 A C 65231180 1340 153 GATTTGTTTTAGACATAGTTTTACAAGTGACCTTATAAAAAGCTTTACCTTTTCATGGGTTACATTTCCAGAGCTGCTGTTCTGGGTCACGACTTTATAATCGGTTGCATACTGTGATCAAGAGGAAAAAAAAACCCACTGTTAGTGCACAGGTGAAGACCGACCTAGAG 65003893 65004063 65004045 65004046 65004046 downstr_intron 31 1.659574 CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAACTATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC mutant NA NA NA NA NA 498 1119 0.9899025 0.9992826 0.9945925 NA NA 0.8192096 0.9710189 NA NA 0.1706928 0.02826371 NA 0.8951143 NA 0.09947827 NA FALSE NA 0 -0.03 . intron_variant&non_coding_transcript_variant MODIFIER SLC1A4 HGNC 10942 ENST00000471551 3/4 1 NA AAT A,C 8.237e-06 2:65004046 SLC1A4 HGNC Symbol protein_coding 35388 ENSG00000115902 ENSE00003653715 intron_variant 0.07161 0.22219 0.09741 0.069865 0.7282678 0.0856336 0.2428977 FALSE 1.22876e-05 ENSE00002423541_BRK ENSE00002423541 BRK 2 65231028 65231197 + 59 63 48 A,G; T,T NA NA NA CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACTTTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGCCAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC 65003893 65004063 NA NA NA NA NA NA CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACTTTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGCCAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC CTCTAGGTCGGTCTTCACCTGTGCACTAACAGTGGGTTTTTTTTTCCTCTTGATCACAGTATGCAACCGATTATAAAGTCGTGACCCAGAACAGCAGCTCTGGAAATGTAACCCATGAAAAGGTAAAGCTTTTTATAAGGTCACTTGTAAAAATATGTCTAAAACAAATC control NA NA NA NA NA 275 2018 0 0.01288143 0.006440716 NA NA 0.8192096 0.9710189 NA NA -0.8192096 -0.9581374 NA 0.8951143 NA -0.8886735 NA TRUE NA NA NA NA NA NA SLC1A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC1A4 NA NA NA ENSG00000115902 ENSE00003653715 NA NA NA NA NA NA NA 0.2428977 FALSE NA ENSE00002423660_000 ENSE00002423660 000 2 242422824 242422993 + 56 69 45 NA NA NA NA NA TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 NA NA NA NA NA NA TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT natural 175 135 0.9862361 0.9929045 0.9895703 5224 5184 0.880271 0.8968543 0.8885627 0.9862361 0.9929045 0.880271 0.8968543 0 0 0 0 0.9895703 0.8885627 0 0 0 FALSE FALSE NA NA NA NA NA FARP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FARP2 NA NA NA ENSG00000006607 ENSE00003598221 NA NA NA NA NA NA NA 1.975365e-20 FALSE NA ENSE00002423660_001 ENSE00002423660 001 2 242422824 242422993 + 56 69 45 A G 242422834 6002 11 TGCATCCGCCGGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483418 241483419 241483419 upstr_intron -46 -0.8035714 TGCATCCGCCGGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 228 73 1 1 1 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.119729 0.1031457 0.9895703 0.8885627 NA 0.1114373 NA FALSE NA 0 -0.966 . intron_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 2/4 1 NA CAG A,G 8.236e-06 2:241483419 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 intron_variant 0.113371 0.12271 0.01069 0.078448 0.4122271 0.0953747 1.975365e-20 FALSE 8.12935e-06 ENSE00002423660_002 ENSE00002423660 002 2 242422824 242422993 + 56 69 45 C A 242422840 6003 17 TGCATCCGCCAGCTGCACTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483424 241483425 241483425 upstr_intron -40 -0.6964286 TGCATCCGCCAGCTGCACTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 330 35 0.9936962 0.9954542 0.9945752 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1134252 0.09859988 0.9895703 0.8885627 NA 0.1060125 NA FALSE NA 0 -0.278 . intron_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 2/4 rs199747321 1 NA CCC C,A 8.236e-06 2:241483425 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 intron_variant 0.627177 0.20407 0.08687 0.162113 0.8211141 0.0953747 1.975365e-20 FALSE 4.06382e-06 ENSE00002423660_003 ENSE00002423660 003 2 242422824 242422993 + 56 69 45 C T 242422848 6004 25 TGCATCCGCCAGCTGCCCTCAGCCTGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483432 241483433 241483433 upstr_intron -32 -0.5535714 TGCATCCGCCAGCTGCCCTCAGCCTGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 373 427 0.9969824 1 0.9984912 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1167114 0.1031457 0.9895703 0.8885627 NA 0.1099285 NA FALSE NA 0 -3.233 . intron_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 2/4 rs369151865 1 NA T:0 T:0.0003 CCG C,T 0.0003624 2:241483433 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 intron_variant -0.224495 0.13106 0.01098 0.078448 0.5864891 0.0953747 1.975365e-20 FALSE 0.000288442 ENSE00002423660_004 ENSE00002423660 004 2 242422824 242422993 + 56 69 45 G A 242422849 6005 26 TGCATCCGCCAGCTGCCCTCAGCCCACTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483433 241483434 241483434 upstr_intron -31 -0.5357143 TGCATCCGCCAGCTGCCCTCAGCCCACTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 208 535 0.9898084 0.9958658 0.9928371 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1095374 0.09901144 0.9895703 0.8885627 NA 0.1042744 NA FALSE NA 0 0.141 . intron_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 2/4 rs374233375 1 NA A:0 A:0.0001 CGC G,A 1.647e-05 2:241483434 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 intron_variant -0.003471 0.17661 0.02991 0.078448 0.5461334 0.0953747 1.975365e-20 FALSE 4.06283e-05 ENSE00002423660_005 ENSE00002423660 005 2 242422824 242422993 + 56 69 45 G A 242422857 6006 34 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGAGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483441 241483442 241483442 upstr_intron -23 -0.3928571 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGAGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 5347 419 0.9869023 0.9960697 0.991486 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1066313 0.0992154 0.9895703 0.8885627 NA 0.1029234 NA FALSE NA 0.013 0.088 . intron_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 2/4 rs201272452 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGG G,A 8.236e-06 2:241483442 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 intron_variant 0.479681 0.18209 0.00866 0.078448 0.8273015 0.0862078 1.975365e-20 FALSE 4.0619e-06 ENSE00002423660_007 ENSE00002423660 007 2 242422824 242422993 + 56 69 45 T C 242422864 6008 41 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCCGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483448 241483449 241483449 upstr_intron -16 -0.2678571 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCCGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 279 21 1 1 1 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.119729 0.1031457 0.9895703 0.8885627 NA 0.1114373 NA FALSE NA 0.001 0.179 rs113002595 intron_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 2/4 rs113002595 1 C:0.0010 C:0.0038 C:0 NA C:0 C:0 C:0 C:0.003 C:0 CTG T,C 0.0003212 2:241483449 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 intron_variant 0.159655 0.26201 0.0415 0.078448 0.6478555 0.0862078 1.975365e-20 FALSE 0.000239604 ENSE00002423660_008 ENSE00002423660 008 2 242422824 242422993 + 56 69 45 G T 242422882 6009 59 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGATTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483466 241483467 241483467 exon 3 0.04347826 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGATTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 1350 193 0.9994194 1 0.9997097 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1191483 0.1031457 0.9895703 0.8885627 NA 0.111147 NA FALSE NA 1 1.734 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW FARP2 HGNC 16460 ENST00000491425 3/5 1 NA AGT G,T 8.236e-06 2:241483467 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 missense_variant 4.482681 0.92568 0.86017 0.615465 0.9987547 0 1.975365e-20 FALSE 4.06085e-06 ENSE00002423660_010 ENSE00002423660 010 2 242422824 242422993 + 56 69 45 G A 242422890 6011 67 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCATGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483474 241483475 241483475 exon 11 0.1594203 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCATGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 580 1529 0.9943532 0.9948357 0.9945944 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1140822 0.09798136 0.9895703 0.8885627 NA 0.1060318 NA FALSE NA 1 9.574 rs144542827 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 3/5 rs144542827 1 NA A:0 A:0.0003 CGT G,A 0.0001483 2:241483475 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 missense_variant 7.794636 0.9749 0.96903 0.615465 0.9993702 0 1.975365e-20 FALSE 0.000190863 ENSE00002423660_011 ENSE00002423660 011 2 242422824 242422993 + 56 69 45 G C 242422894 6012 71 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGACGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483478 241483479 241483479 exon 15 0.2173913 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGACGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 251 206 0.9981633 1 0.9990817 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1178923 0.1031457 0.9895703 0.8885627 NA 0.110519 NA FALSE NA 1 3.525 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 3/5 1 NA AGG G,C 1.647e-05 2:241483479 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 missense_variant 4.389962 0.93815 0.88296 0.615465 0.9972449 0 1.975365e-20 FALSE 1.62429e-05 ENSE00002423660_012 ENSE00002423660 012 2 242422824 242422993 + 56 69 45 C G 242422910 6013 87 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGGTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483494 241483495 241483495 exon 31 0.4492754 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGGTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 213 3083 0.9941936 0.9406919 0.9674428 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1139226 0.04383759 0.9895703 0.8885627 NA 0.07888009 NA FALSE NA 1 4.773 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 3/5 1 NA GCT C,G 8.236e-06 2:241483495 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 missense_variant 5.506032 0.94808 0.92062 0.615465 0.9985249 0 1.975365e-20 FALSE 4.06078e-06 ENSE00002423660_013 ENSE00002423660 013 2 242422824 242422993 + 56 69 45 G A 242422935 6014 112 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAAGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483519 241483520 241483520 exon -14 0.8115942 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAAGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 299 1061 1 1 1 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.119729 0.1031457 0.9895703 0.8885627 NA 0.1114373 NA FALSE NA 1 7.722 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 3/5 1 NA AGG G,A 3.295e-05 2:241483520 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 missense_variant 5.703529 0.96333 0.94731 0.615465 0.995489 0 1.975365e-20 FALSE 1.62446e-05 ENSE00002423660_014 ENSE00002423660 014 2 242422824 242422993 + 56 69 45 G A 242422936 6015 113 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGAATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483520 241483521 241483521 exon -13 0.826087 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGAATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 67 508 0.9699523 0.99864 0.9842962 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.08968132 0.1017857 0.9895703 0.8885627 NA 0.09573351 NA FALSE NA 1 0.673 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 3/5 1 NA GGA G,A 8.236e-06 2:241483521 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 synonymous_variant 1.171022 0.91016 0.72934 0.615465 0.6834083 0 1.975365e-20 FALSE 4.06118e-06 ENSE00002423660_016 ENSE00002423660 016 2 242422824 242422993 + 56 69 45 C G 242422963 6017 140 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCGACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483547 241483548 241483548 downstr_intron 15 1.340909 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCGACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 85 863 0.8805014 0.9973515 0.9389264 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.000230403 0.1004971 0.9895703 0.8885627 NA 0.05036378 NA FALSE NA 0 -1.442 NA NA NA FARP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:241483548 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 intron_variant -0.255055 0.24498 0.01031 0.078448 0.6381264 0.0862078 1.975365e-20 FALSE 4.06412e-06 ENSE00002423660_018 ENSE00002423660 018 2 242422824 242422993 + 56 69 45 C T 242422971 6019 148 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGTTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 241483555 241483556 241483556 downstr_intron 23 1.522727 TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGTTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT mutant NA NA NA NA NA 1580 65 0.9944698 0.997559 0.9960144 0.9862361 0.9929045 0.880271 0.8968543 NA NA 0.1141988 0.1007047 0.9895703 0.8885627 NA 0.1074517 NA FALSE NA 0 1.743 . intron_variant&non_coding_transcript_variant MODIFIER FARP2 HGNC 16460 ENST00000491425 3/4 1 NA GCT C,T 8.236e-06 2:241483556 FARP2 HGNC Symbol protein_coding 138598 ENSG00000006607 ENSE00003598221 intron_variant 0.322773 0.38682 0.09131 0.078448 0.5292647 0.585141 1.975365e-20 FALSE NA ENSE00002423660_BRK ENSE00002423660 BRK 2 242422824 242422993 + 56 69 45 A,G; T,T NA NA NA TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCTTGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGCCAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT 241483408 241483578 NA NA NA NA NA NA TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCTTGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGCCAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT TGCATCCGCCAGCTGCCCTCAGCCCGCTGAAAGGGGACTCTGTCTCTGTCTTTCAGGAGTTCATCCGTGAGGGCTGCCTTCACAAGCTCACCAAGAAGGGCCTGCAGCAGAGGATGTTTTTTCTGGTAGGTTCTCTCCCCACTCAAGCTGTGCTTCCCCCCGAGGGGGAT control 117 138 0 0 0 NA NA NA NA NA 0.9862361 0.9929045 0.880271 0.8968543 -0.9862361 -0.9929045 NA NA 0.9895703 0.8885627 -0.9895703 NA NA NA TRUE NA NA NA NA NA FARP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA FARP2 NA NA NA ENSG00000006607 ENSE00003598221 NA NA NA NA NA NA NA 1.975365e-20 FALSE NA ENSE00002424313_000 ENSE00002424313 000 5 150513937 150514106 - 51 57 62 NA NA NA NA NA TCCCAAGGCTCTTCTGCTGTGCCTCAGGGACTTTCAGTGGTGCTTGTTTACCTGGACATCCTGTTGTACCAGGTCCTCGCTCACTACGTCATCCTCCTCCCTGGTTCCCTGGGCAGAAAGACAAAGAACATGTGTTTCAAACACTGCAAAGTCAGGAGGGAGGCCTGGAT 151134375 151134545 NA NA NA NA NA NA ATCCAGGCCTCCCTCCTGACTTTGCAGTGTTTGAAACACATGTTCTTTGTCTTTCTGCCCAGGGAACCAGGGAGGAGGATGACGTAGTGAGCGAGGACCTGGTACAACAGGATGTCCAGGTAAACAAGCACCACTGAAAGTCCCTGAGGCACAGCAGAAGAGCCTTGGGA ATCCAGGCCTCCCTCCTGACTTTGCAGTGTTTGAAACACATGTTCTTTGTCTTTCTGCCCAGGGAACCAGGGAGGAGGATGACGTAGTGAGCGAGGACCTGGTACAACAGGATGTCCAGGTAAACAAGCACCACTGAAAGTCCCTGAGGCACAGCAGAAGAGCCTTGGGA natural NA NA NA NA NA 724 137 0.9754269 1 0.9877134 NA NA 0.9754269 1 NA NA 0 0 NA 0.9877134 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA POLR3C NA NA NA NA ENSE00003787707 NA NA NA NA NA NA NA 8.657011e-06 FALSE NA ENSE00002424628_000 ENSE00002424628 000 3 193125063 193125232 - 39 81 50 NA NA NA NA NA CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT 193407273 193407443 NA NA NA NA NA NA CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT natural 87 73 0.9936734 0.9957261 0.9946997 384 1023 0.612845 0.6219728 0.6174089 0.9936734 0.9957261 0.612845 0.6219728 0 0 0 0 0.9946997 0.6174089 0 0 0 FALSE FALSE NA NA NA NA NA ATP13A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP13A4 NA NA NA ENSG00000127249 ENSE00003654785 NA NA NA NA NA NA NA 6.076487e-10 FALSE NA ENSE00002424628_003 ENSE00002424628 003 3 193125063 193125232 - 39 81 50 C T 193125093 4148 140 CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTACTGATCTTGGGCTGCTGATCTTGTGTGTGT 193407273 193407443 193407303 193407304 193407304 downstr_intron 9 1.236842 CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTACTGATCTTGGGCTGCTGATCTTGTGTGTGT CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT mutant NA NA NA NA NA 18 16 1 1 1 0.9936734 0.9957261 0.612845 0.6219728 NA NA 0.387155 0.3780272 0.9946997 0.6174089 NA 0.3825911 NA FALSE NA 0.001 -0.499 . intron_variant&non_coding_transcript_variant MODIFIER ATP13A4 HGNC 25422 ENST00000482964 3/4 1 NA GCA C,T 8.236e-06 3:193407304 ATP13A4 HGNC Symbol protein_coding 191034 ENSG00000127249 ENSE00003654785 intron_variant -0.02075 0.20427 0.00566 0.087844 0.3043651 0.19797 6.076487e-10 FALSE 4.06415e-06 ENSE00002424628_017 ENSE00002424628 017 3 193125063 193125232 - 39 81 50 T C 193125173 4162 60 CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCGCTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT 193407273 193407443 193407383 193407384 193407384 exon 10 0.1234568 CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCGCTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT mutant NA NA NA NA NA 60 34 1 0.8 0.9 0.9936734 0.9957261 0.612845 0.6219728 NA NA 0.387155 0.1780272 0.9946997 0.6174089 NA 0.2825911 NA FALSE NA 1 5.068 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP13A4 HGNC 25422 ENST00000482964 3/5 1 NA GTG T,C 2.471e-05 3:193407384 ATP13A4 HGNC Symbol protein_coding 191034 ENSG00000127249 ENSE00003654785 missense_variant 2.360244 0.98605 0.92566 0.616025 0.9893421 0 6.076487e-10 FALSE 1.22014e-05 ENSE00002424628_025 ENSE00002424628 025 3 193125063 193125232 - 39 81 50 G A 193125195 4170 38 CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATTATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT 193407273 193407443 193407405 193407406 193407406 upstr_intron -13 -0.24 CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATTATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT mutant NA NA NA NA NA 240 545 1 1 1 0.9936734 0.9957261 0.612845 0.6219728 NA NA 0.387155 0.3780272 0.9946997 0.6174089 NA 0.3825911 NA FALSE NA 0.002 0.741 . intron_variant&non_coding_transcript_variant MODIFIER ATP13A4 HGNC 25422 ENST00000482964 2/4 1 NA TGA G,A 1.647e-05 3:193407406 ATP13A4 HGNC Symbol protein_coding 191034 ENSG00000127249 ENSE00003654785 intron_variant 0.208236 0.17916 0.00396 0.087844 0.496987 0.229406 6.076487e-10 FALSE NA ENSE00002424628_027 ENSE00002424628 027 3 193125063 193125232 - 39 81 50 C T 193125202 4172 31 CCAGCATCTGCGTGTCTTCAGACTAACTGTACTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT 193407273 193407443 193407412 193407413 193407413 upstr_intron -20 -0.38 CCAGCATCTGCGTGTCTTCAGACTAACTGTACTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT mutant NA NA NA NA NA 25 37 0.9878765 1 0.9939382 0.9936734 0.9957261 0.612845 0.6219728 NA NA 0.3750314 0.3780272 0.9946997 0.6174089 NA 0.3765293 NA FALSE NA 0 -0.565 . intron_variant&non_coding_transcript_variant MODIFIER ATP13A4 HGNC 25422 ENST00000482964 2/4 1 NA GCA C,T 8.236e-06 3:193407413 ATP13A4 HGNC Symbol protein_coding 191034 ENSG00000127249 ENSE00003654785 intron_variant -0.075729 0.15103 0.01187 0.087844 0.4707401 0.165933 6.076487e-10 FALSE 1.62898e-05 ENSE00002424628_BRK ENSE00002424628 BRK 3 193125063 193125232 - 39 81 50 A,G; T,T NA NA NA CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCTTCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGCCAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT 193407273 193407443 NA NA NA NA NA NA CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCTTCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGCCAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT CCAGCATCTGCGTGTCTTCAGACTAACTGTGCTTCATCATCTCCCGCCAGCTGCTCTGCACTCCCGTCCTGTGGAGGGCCTCCATTGTCATCATGCTCAGCTTGAATTTCATTGTGTCCCTTGTGGCCGAGGTAAGTGTGCTGATCTTGGGCTGCTGATCTTGTGTGTGT control 161 16 0 0 0 213 723 0 0 0 0.9936734 0.9957261 0.612845 0.6219728 -0.9936734 -0.9957261 -0.612845 -0.6219728 0.9946997 0.6174089 -0.9946997 -0.6174089 0.3772908 TRUE TRUE NA NA NA NA NA ATP13A4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ATP13A4 NA NA NA ENSG00000127249 ENSE00003654785 NA NA NA NA NA NA NA 6.076487e-10 FALSE NA ENSE00002424849_000 ENSE00002424849 000 13 101077846 101078015 + 41 99 30 NA NA NA NA NA GTCTTTCTTCATGGTAATGGTCTTATTTGGTGTCACAACAGGTGGAAGTTGATGGGTCGAAACTAAATGTGACCAGCACGTGGAACCTGGCTTCGCCCTTATTGTCTGTCAGCGTTGATGGCACTCAGAGGACTGTCCAGGTGAGTGTTGTAAGGATTTCCTTAGAGGGC 100425591 100425761 NA NA NA NA NA NA GTCTTTCTTCATGGTAATGGTCTTATTTGGTGTCACAACAGGTGGAAGTTGATGGGTCGAAACTAAATGTGACCAGCACGTGGAACCTGGCTTCGCCCTTATTGTCTGTCAGCGTTGATGGCACTCAGAGGACTGTCCAGGTGAGTGTTGTAAGGATTTCCTTAGAGGGC GTCTTTCTTCATGGTAATGGTCTTATTTGGTGTCACAACAGGTGGAAGTTGATGGGTCGAAACTAAATGTGACCAGCACGTGGAACCTGGCTTCGCCCTTATTGTCTGTCAGCGTTGATGGCACTCAGAGGACTGTCCAGGTGAGTGTTGTAAGGATTTCCTTAGAGGGC natural NA NA NA NA NA 3785 4414 0.9181124 0.9974787 0.9577955 NA NA 0.9181124 0.9974787 NA NA 0 0 NA 0.9577955 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANKRD35 NA NA NA NA ENSE00003784437 NA NA NA NA NA NA NA 4.676361e-13 FALSE NA ENSE00002424866_000 ENSE00002424866 000 6 152847183 152847352 - 32 96 42 NA NA NA NA NA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 NA NA NA NA NA NA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA natural 293 302 0.9677524 0.9847574 0.9762549 17550 11078 0.9452169 0.9330001 0.9391085 0.9677524 0.9847574 0.9452169 0.9330001 0 0 0 0 0.9762549 0.9391085 0 0 0 FALSE FALSE NA NA NA NA NA SYNE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNE1 NA NA NA ENSG00000131018 ENSE00003471089 NA NA NA NA NA NA NA 3.750681e-27 FALSE NA ENSE00002424866_001 ENSE00002424866 001 6 152847183 152847352 - 32 96 42 A G 152847199 2495 154 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGCGTGATCATACTTGTCA 152526047 152526217 152526063 152526064 152526064 downstr_intron 16 1.516129 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGCGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 134 285 0.9849592 0.9802851 0.9826222 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.03974234 0.04728505 0.9762549 0.9391085 NA 0.04351369 NA FALSE NA 0 0.778 . intron_variant MODIFIER SYNE1 HGNC 17089 ENST00000466159 3/17 1 NA CAC A,G 1.647e-05 6:152526064 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 intron_variant 0.020458 0.21402 0.01048 0.061011 0.3399946 0.106537 3.750681e-27 FALSE 1.22402e-05 ENSE00002424866_002 ENSE00002424866 002 6 152847183 152847352 - 32 96 42 T A 152847212 2496 141 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTTAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526076 152526077 152526077 downstr_intron 3 1.096774 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTTAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 661 476 0.8959936 0.9473826 0.9216881 0.9677524 0.9847574 0.9452169 0.9330001 NA NA -0.04922327 0.01438249 0.9762549 0.9391085 NA -0.01742039 NA FALSE NA 1 2.799 . splice_region_variant&intron_variant LOW SYNE1 HGNC 17089 ENST00000466159 3/17 rs371949651 1 NA A:0.0002 A:0 TTA T,A 8.237e-06 6:152526077 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 splice_region_variant 1.860519 0.98389 0.90488 0.061011 0.8995171 0.470137 3.750681e-27 FALSE 4.07266e-06 ENSE00002424866_003 ENSE00002424866 003 6 152847183 152847352 - 32 96 42 G T 152847223 2497 130 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGAAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526087 152526088 152526088 exon -9 0.9166667 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGAAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 2496 1818 0.999868 0.999258 0.999563 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.05465116 0.06625793 0.9762549 0.9391085 NA 0.06045454 NA FALSE NA 1 6.942 . missense_variant MODERATE SYNE1 HGNC 17089 ENST00000466159 3/18 1 deleterious(0) benign(0.077) NA TGC G,T 8.237e-06 6:152526088 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 missense_variant 3.86815 0.99261 0.97214 0.487112 0.9908455 0 3.750681e-27 FALSE 4.06967e-06 ENSE00002424866_004 ENSE00002424866 004 6 152847183 152847352 - 32 96 42 G A 152847244 2498 109 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCTTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526108 152526109 152526109 exon -30 0.6979167 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCTTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 146 591 0.998867 0.9763137 0.9875904 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.05365016 0.04331364 0.9762549 0.9391085 NA 0.0484819 NA FALSE NA 1 3.964 . missense_variant MODERATE SYNE1 HGNC 17089 ENST00000466159 3/18 1 deleterious(0) probably_damaging(1) NA AGG G,A 2.471e-05 6:152526109 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 missense_variant 5.699199 0.98918 0.93345 0.487112 0.9990337 0 3.750681e-27 FALSE 1.62656e-05 ENSE00002424866_005 ENSE00002424866 005 6 152847183 152847352 - 32 96 42 T C 152847254 2499 99 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAGCTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526118 152526119 152526119 exon -40 0.59375 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAGCTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 681 951 0.9938272 0.9982605 0.9960438 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.04861035 0.06526037 0.9762549 0.9391085 NA 0.05693536 NA FALSE NA 0.999 0.559 . synonymous_variant LOW SYNE1 HGNC 17089 ENST00000466159 3/18 1 NA GTT T,C 1.647e-05 6:152526119 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 synonymous_variant 0.356761 0.96495 0.22233 0.487112 0.6905 0 3.750681e-27 FALSE 4.06531e-06 ENSE00002424866_006 ENSE00002424866 006 6 152847183 152847352 - 32 96 42 C T 152847259 2500 94 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTATTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526123 152526124 152526124 exon -45 0.5416667 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTATTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 3346 1042 0.9309531 0.9624518 0.9467024 0.9677524 0.9847574 0.9452169 0.9330001 NA NA -0.01426378 0.02945169 0.9762549 0.9391085 NA 0.007593956 NA FALSE NA 0.31 0.239 rs151156420 missense_variant MODERATE SYNE1 HGNC 17089 ENST00000466159 3/18 rs151156420 1 tolerated(0.18) benign(0.072) T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0016 T:0 ACA C,T 0.00014 6:152526124 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 missense_variant 2.087773 0.96262 0.22722 0.487112 0.9843339 0 3.750681e-27 FALSE 9.75753e-05 ENSE00002424866_007 ENSE00002424866 007 6 152847183 152847352 - 32 96 42 A T 152847260 2501 93 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGAGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526124 152526125 152526125 exon -46 0.53125 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGAGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 678 778 0.9949241 0.9995932 0.9972587 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.04970723 0.06659314 0.9762549 0.9391085 NA 0.05815018 NA FALSE NA 0.295 0.208 . synonymous_variant LOW SYNE1 HGNC 17089 ENST00000466159 3/18 1 NA CAC A,T 8.236e-06 6:152526125 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 synonymous_variant -0.748852 0.9247 0.17528 0.487112 0.6537185 0 3.750681e-27 FALSE 8.13107e-06 ENSE00002424866_008 ENSE00002424866 008 6 152847183 152847352 - 32 96 42 T C 152847264 2502 89 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGGTGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526128 152526129 152526129 exon 47 0.4895833 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGGTGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 177 906 0.9997673 0.9943725 0.9970699 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.0545504 0.0613724 0.9762549 0.9391085 NA 0.0579614 NA FALSE NA 1 7.123 . missense_variant MODERATE SYNE1 HGNC 17089 ENST00000466159 3/18 1 deleterious(0) probably_damaging(1) NA ATC T,C 8.236e-06 6:152526129 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 missense_variant 6.268956 0.99383 0.96824 0.487112 0.9987274 0 3.750681e-27 FALSE 4.06537e-06 ENSE00002424866_009 ENSE00002424866 009 6 152847183 152847352 - 32 96 42 T G 152847273 2503 80 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGCCATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526137 152526138 152526138 exon 38 0.3958333 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGCCATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 860 778 0.9999521 1 0.9999761 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.05473527 0.06699991 0.9762549 0.9391085 NA 0.06086759 NA FALSE NA 1 7.123 . missense_variant MODERATE SYNE1 HGNC 17089 ENST00000466159 3/18 rs374929339 1 deleterious(0) probably_damaging(1) NA G:0.0002 G:0 GTC T,G 8.236e-06 6:152526138 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 missense_variant 6.172372 0.99402 0.97371 0.487112 0.9962384 0 3.750681e-27 FALSE 4.0658e-06 ENSE00002424866_010 ENSE00002424866 010 6 152847183 152847352 - 32 96 42 A G 152847284 2504 69 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGACCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526148 152526149 152526149 exon 27 0.28125 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGACCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 2756 1997 0.993114 0.9989616 0.9960378 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.04789718 0.06596155 0.9762549 0.9391085 NA 0.05692937 NA FALSE NA 0.939 0.123 rs139156106 synonymous_variant LOW SYNE1 HGNC 17089 ENST00000466159 3/18 rs139156106 1 G:0.0028 G:0.0008 G:0.0072 NA G:0 G:0.008 G:0 G:0.0025 G:0.0114 GAT A,G 0.007718 6:152526149 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 synonymous_variant -0.282876 0.93993 0.37056 0.487112 0.5579677 0 3.750681e-27 FALSE 0.00724196 ENSE00002424866_011 ENSE00002424866 011 6 152847183 152847352 - 32 96 42 C T 152847286 2505 67 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACAATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526150 152526151 152526151 exon 25 0.2604167 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACAATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 1327 1578 0.9860921 0.9975133 0.9918027 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.04087528 0.06451317 0.9762549 0.9391085 NA 0.05269422 NA FALSE NA 1 6.928 . missense_variant MODERATE SYNE1 HGNC 17089 ENST00000466159 3/18 rs560155321&COSM3622105&COSM3622104&COSM3622108&COSM3622106&COSM3622107 1 deleterious(0.03) probably_damaging(0.977) NA TCG C,T 8.236e-06 6:152526151 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 missense_variant 7.215424 0.99542 0.97077 0.487112 0.9992836 0 3.750681e-27 FALSE 4.06666e-06 ENSE00002424866_012 ENSE00002424866 012 6 152847183 152847352 - 32 96 42 G A 152847287 2506 66 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGATGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526151 152526152 152526152 exon 24 0.25 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGATGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 490 919 0.9923667 0.9994834 0.995925 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.04714979 0.06648329 0.9762549 0.9391085 NA 0.05681654 NA FALSE NA 0.946 0.064 . synonymous_variant LOW SYNE1 HGNC 17089 ENST00000466159 3/18 COSM1487389&COSM1487388&COSM1487390 1 NA CGT G,A 1.647e-05 6:152526152 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 synonymous_variant 0.765776 0.96081 0.2289 0.487112 0.6137394 0 3.750681e-27 FALSE 2.0334e-05 ENSE00002424866_013 ENSE00002424866 013 6 152847183 152847352 - 32 96 42 T C 152847299 2507 54 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCGATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526163 152526164 152526164 exon 12 0.125 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCGATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 664 2413 0.9995828 0.9813898 0.9904863 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.05436594 0.04838975 0.9762549 0.9391085 NA 0.05137785 NA FALSE NA 0.006 -1.897 . synonymous_variant LOW SYNE1 HGNC 17089 ENST00000466159 3/18 rs551171550 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTG T,C 1.647e-05 6:152526164 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 synonymous_variant 0.141444 0.87103 0.0829 0.487112 0.7268572 0 3.750681e-27 FALSE 1.22029e-05 ENSE00002424866_014 ENSE00002424866 014 6 152847183 152847352 - 32 96 42 C T 152847309 2508 44 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCAGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526173 152526174 152526174 exon 2 0.02083333 GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCAGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 589 6876 0.9907938 0.9958941 0.9933439 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.0455769 0.06289398 0.9762549 0.9391085 NA 0.05423544 NA FALSE NA 1 3.252 . missense_variant&splice_region_variant MODERATE SYNE1 HGNC 17089 ENST00000466159 3/18 1 deleterious(0.01) possibly_damaging(0.739) NA CCG C,T 8.236e-06 6:152526174 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 missense_variant 6.368122 0.98784 0.85694 0.487112 0.9995 0 3.750681e-27 FALSE 4.06951e-06 ENSE00002424866_015 ENSE00002424866 015 6 152847183 152847352 - 32 96 42 A G 152847321 2509 32 GGAAGAGATATTTTCTGCACTTATTCCTCTTCGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526185 152526186 152526186 upstr_intron -11 -0.2380952 GGAAGAGATATTTTCTGCACTTATTCCTCTTCGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 868 616 0.9990001 1 0.9995 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.05378321 0.06699991 0.9762549 0.9391085 NA 0.06039156 NA FALSE NA 0.004 0.673 . intron_variant MODIFIER SYNE1 HGNC 17089 ENST00000466159 2/17 1 NA CAA A,G 1.647e-05 6:152526186 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 intron_variant 0.290662 0.28553 0.18921 0.061011 0.647176 0.0802845 3.750681e-27 FALSE 8.14956e-06 ENSE00002424866_016 ENSE00002424866 016 6 152847183 152847352 - 32 96 42 G A 152847327 2510 26 GGAAGAGATATTTTCTGCACTTATTTCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526191 152526192 152526192 upstr_intron -17 -0.3809524 GGAAGAGATATTTTCTGCACTTATTTCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 799 2949 0.8631986 0.9987424 0.9309705 0.9677524 0.9847574 0.9452169 0.9330001 NA NA -0.08201824 0.06574234 0.9762549 0.9391085 NA -0.008137947 NA FALSE NA 0.007 0.231 . intron_variant MODIFIER SYNE1 HGNC 17089 ENST00000466159 2/17 rs569421654 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGA G,A 8.237e-05 6:152526192 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 intron_variant -0.179531 0.1763 0.09785 0.061011 0.531371 0.0443366 3.750681e-27 FALSE 0.000114165 ENSE00002424866_018 ENSE00002424866 018 6 152847183 152847352 - 32 96 42 G A 152847335 2512 18 GGAAGAGATATTTTCTGTACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 152526199 152526200 152526200 upstr_intron -25 -0.5714286 GGAAGAGATATTTTCTGTACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA mutant NA NA NA NA NA 1614 2612 0.9951151 0.9974342 0.9962746 0.9677524 0.9847574 0.9452169 0.9330001 NA NA 0.04989824 0.06443408 0.9762549 0.9391085 NA 0.05716616 NA FALSE NA 0 -0.07 rs2141152 intron_variant MODIFIER SYNE1 HGNC 17089 ENST00000466159 2/17 rs2141152 1 A:0.2642 A:0.1157 A:0.1888 NA A:0.4395 A:0.3757 A:0.2229 A:0.1319 A:0.3233 TGC G,A 0.294 6:152526200 SYNE1 HGNC Symbol protein_coding 516117 ENSG00000131018 ENSE00003471089 intron_variant 0.617226 0.31502 0.08606 0.061011 0.7106093 0.0443366 3.750681e-27 FALSE 0.295098 ENSE00002424866_BRK ENSE00002424866 BRK 6 152847183 152847352 - 32 96 42 A,G; T,T NA NA NA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACTTCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGCCAAGAATTTTTTTGTGTGATCATACTTGTCA 152526047 152526217 NA NA NA NA NA NA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACTTCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGCCAAGAATTTTTTTGTGTGATCATACTTGTCA GGAAGAGATATTTTCTGCACTTATTCCTCTTTGCTTTTACAGCGGAAACCTCCAATGGTGGTGGACGATCTTTTTGAAGACATGAAAGATGGTGTTAAACTGCTTGCCCTTCTGGAGGTCCTGTCTGGGCAGAAACTGGTAAGAATTTTTTTGTGTGATCATACTTGTCA control 83 130 0 0 0 353 115 0.004174765 0 0.002087383 0.9677524 0.9847574 0.9452169 0.9330001 -0.9677524 -0.9847574 -0.9410421 -0.9330001 0.9762549 0.9391085 -0.9762549 -0.9370211 0.03923378 TRUE TRUE NA NA NA NA NA SYNE1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SYNE1 NA NA NA ENSG00000131018 ENSE00003471089 NA NA NA NA NA NA NA 3.750681e-27 FALSE NA ENSE00002425057_000 ENSE00002425057 000 3 130345270 130345439 + 59 63 48 NA NA NA NA NA GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 NA NA NA NA NA NA GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT natural 50 39 0.9951465 0.9765665 0.9858565 3783 2726 0.9916873 0.9126242 0.9521557 0.9951465 0.9765665 0.9916873 0.9126242 0 0 0 0 0.9858565 0.9521557 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003572784 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002425057_003 ENSE00002425057 003 3 130345270 130345439 + 59 63 48 A G 130345293 2893 24 GCTGAATTAGTGCCATCATTTCCGATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626448 130626449 130626449 upstr_intron -36 -0.5932203 GCTGAATTAGTGCCATCATTTCCGATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 567 3424 0.9484521 0.9153186 0.9318853 0.9951465 0.9765665 0.9916873 0.9126242 NA NA -0.04323524 0.002694425 0.9858565 0.9521557 NA -0.02027041 NA FALSE NA 0 -0.46 NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:130626449 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant -0.14269 0.13909 0.00563 0.06567 0.5092571 0.131644 3.591687e-45 FALSE 0.00135777 ENSE00002425057_005 ENSE00002425057 005 3 130345270 130345439 + 59 63 48 A G 130345309 2895 40 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAGCAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626464 130626465 130626465 upstr_intron -20 -0.3220339 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAGCAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 485 936 0.9974626 0.9991769 0.9983198 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.00577529 0.08655278 0.9858565 0.9521557 NA 0.04616404 NA FALSE NA 0.006 -0.141 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/27 1 NA AAC A,G 8.275e-06 3:130626465 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant 0.066591 0.13388 0.01945 0.06567 0.7568665 0.235676 3.591687e-45 FALSE 1.21909e-05 ENSE00002425057_006 ENSE00002425057 006 3 130345270 130345439 + 59 63 48 A G 130345311 2896 42 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACGATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626466 130626467 130626467 upstr_intron -18 -0.2881356 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACGATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 1685 455 0.9944052 1 0.9972026 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.002717915 0.08737583 0.9858565 0.9521557 NA 0.04504687 NA FALSE NA 0.046 0.836 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/27 1 NA CAA A,G 8.276e-06 3:130626467 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant -0.043652 0.2877 0.11934 0.06567 0.7946745 0.166142 3.591687e-45 FALSE 8.12645e-06 ENSE00002425057_007 ENSE00002425057 007 3 130345270 130345439 + 59 63 48 A T 130345312 2897 43 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACATTCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626467 130626468 130626468 upstr_intron -17 -0.2711864 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACATTCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 1535 1098 0.9975813 0.9987014 0.9981414 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.005893959 0.08607728 0.9858565 0.9521557 NA 0.04598562 NA FALSE NA 0.026 -0.22 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 16/27 1 NA AAT A,T 1.655e-05 3:130626468 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant -0.068309 0.2307 0.07589 0.06567 0.8038279 0.166142 3.591687e-45 FALSE 1.62524e-05 ENSE00002425057_008 ENSE00002425057 008 3 130345270 130345439 + 59 63 48 A G 130345325 2898 56 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAGCAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626480 130626481 130626481 upstr_intron -4 -0.05084746 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAGCAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 942 89 1 1 1 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.008312705 0.08737583 0.9858565 0.9521557 NA 0.04784427 NA FALSE NA 0.969 3.026 . splice_region_variant&intron_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 16/27 1 NA AAC A,G 8.276e-06 3:130626481 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 splice_region_variant 0.990768 0.98297 0.95136 0.06567 0.8622757 0.95092 3.591687e-45 FALSE 4.0625e-06 ENSE00002425057_009 ENSE00002425057 009 3 130345270 130345439 + 59 63 48 G A 130345329 2899 60 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGAGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626484 130626485 130626485 exon 1 0.01587302 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGAGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 336 1934 0.8423168 0.9987506 0.9205337 0.9951465 0.9765665 0.9916873 0.9126242 NA NA -0.1493705 0.08612642 0.9858565 0.9521557 NA -0.03162206 NA FALSE NA 1 4.816 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 17/28 COSM4113506&COSM4113505 1 NA GGG G,A 8.276e-06 3:130626485 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 missense_variant 5.806904 0.98518 0.97559 0.487112 0.999264 0 3.591687e-45 FALSE 1.62507e-05 ENSE00002425057_010 ENSE00002425057 010 3 130345270 130345439 + 59 63 48 G T 130345341 2900 72 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGATATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626496 130626497 130626497 exon 13 0.2063492 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGATATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 457 790 1 1 1 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.008312705 0.08737583 0.9858565 0.9521557 NA 0.04784427 NA FALSE NA 0.038 0.734 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/28 1 NA AGA G,T 8.275e-06 3:130626497 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 missense_variant 4.918721 0.7711 0.17024 0.487112 0.9865097 0 3.591687e-45 FALSE 4.06233e-06 ENSE00002425057_012 ENSE00002425057 012 3 130345270 130345439 + 59 63 48 C T 130345378 2902 109 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCTTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626533 130626534 130626534 exon -14 0.7936508 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCTTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 137 499 1 1 1 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.008312705 0.08737583 0.9858565 0.9521557 NA 0.04784427 NA FALSE NA 1 1.658 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/28 1 NA CCT C,T 1.655e-05 3:130626534 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 missense_variant 2.496591 0.97422 0.81873 0.487112 0.9705828 0 3.591687e-45 FALSE 1.62473e-05 ENSE00002425057_013 ENSE00002425057 013 3 130345270 130345439 + 59 63 48 T G 130345379 2903 110 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCGCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626534 130626535 130626535 exon -13 0.8095238 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCGCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 478 483 1 0.9637011 0.9818505 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.008312705 0.05107691 0.9858565 0.9521557 NA 0.02969481 NA FALSE NA 1 0.528 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/28 1 NA CTC T,G 8.277e-06 3:130626535 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 synonymous_variant -0.359546 0.95513 0.70782 0.487112 0.6059579 0 3.591687e-45 FALSE 8.12381e-06 ENSE00002425057_014 ENSE00002425057 014 3 130345270 130345439 + 59 63 48 G A 130345381 2904 112 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCATGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626536 130626537 130626537 exon -11 0.8412698 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCATGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 1523 725 0.9975101 0.9893624 0.9934362 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.005822806 0.07673822 0.9858565 0.9521557 NA 0.04128051 NA FALSE NA 1 4.827 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:130626537 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 missense_variant 6.323647 0.986 0.95477 0.487112 0.9991408 0 3.591687e-45 FALSE 0.00125921 ENSE00002425057_015 ENSE00002425057 015 3 130345270 130345439 + 59 63 48 G C 130345381 2905 112 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCCTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626536 130626537 130626537 exon -11 0.8412698 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCCTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 1187 110 0.9980345 0.9971135 0.997574 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.006347216 0.08448937 0.9858565 0.9521557 NA 0.04541829 NA FALSE NA 1 4.827 NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003572784 missense_variant 6.213618 0.98682 0.96213 0.487112 0.997094 0 3.591687e-45 FALSE 5.28056e-05 ENSE00002425057_016 ENSE00002425057 016 3 130345270 130345439 + 59 63 48 G A 130345388 2906 119 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTACAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626543 130626544 130626544 exon -4 0.952381 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTACAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 522 1055 0.9997063 0.9893198 0.994513 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.008019015 0.0766956 0.9858565 0.9521557 NA 0.04235731 NA FALSE NA 0.984 -0.049 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/28 1 NA TGC G,A 8.277e-06 3:130626544 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 synonymous_variant -0.144314 0.94966 0.53444 0.487112 0.7120727 0 3.591687e-45 FALSE 8.12473e-06 ENSE00002425057_017 ENSE00002425057 017 3 130345270 130345439 + 59 63 48 G T 130345396 2907 127 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTTTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626551 130626552 130626552 downstr_intron 5 1.106383 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTTTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 14 572 0.8182474 0.800442 0.8093447 0.9951465 0.9765665 0.9916873 0.9126242 NA NA -0.1734398 -0.1121822 0.9858565 0.9521557 NA -0.142811 NA FALSE NA 0.995 4.827 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:130626552 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 splice_region_variant 0.643228 0.94892 0.93984 0.06567 0.8207684 0.953038 3.591687e-45 FALSE 2.43728e-05 ENSE00002425057_018 ENSE00002425057 018 3 130345270 130345439 + 59 63 48 G A 130345396 2908 127 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTATATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626551 130626552 130626552 downstr_intron 5 1.106383 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTATATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 864 318 0.8168397 0.8007947 0.8088172 0.9951465 0.9765665 0.9916873 0.9126242 NA NA -0.1748475 -0.1118295 0.9858565 0.9521557 NA -0.1433385 NA FALSE NA 0.995 4.827 NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003572784 splice_region_variant 0.728943 0.94664 0.93059 0.06567 0.7958927 0.953038 3.591687e-45 FALSE 0 ENSE00002425057_019 ENSE00002425057 019 3 130345270 130345439 + 59 63 48 T C 130345401 2909 132 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTCTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626556 130626557 130626557 downstr_intron 10 1.212766 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTCTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 74 2051 0.9727551 0.9999043 0.9863297 0.9951465 0.9765665 0.9916873 0.9126242 NA NA -0.01893218 0.08728015 0.9858565 0.9521557 NA 0.03417399 NA FALSE NA 0 0.209 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/27 1 NA TTT T,C 8.277e-06 3:130626557 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant 0.201331 0.20519 0.03607 0.061011 0.3326324 0.0937141 3.591687e-45 FALSE 4.06213e-06 ENSE00002425057_020 ENSE00002425057 020 3 130345270 130345439 + 59 63 48 T C 130345408 2910 139 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACCAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626563 130626564 130626564 downstr_intron 17 1.361702 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACCAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 683 1622 0.933134 0.9986389 0.9658864 0.9951465 0.9765665 0.9916873 0.9126242 NA NA -0.0585533 0.08601473 0.9858565 0.9521557 NA 0.01373071 NA FALSE NA 0 0.222 rs117055687 intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/27 rs117055687 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTA T,C 6.622e-05 3:130626564 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant 0.140715 0.17894 0.01601 0.061011 0.2850889 0.0937141 3.591687e-45 FALSE 0.00010562 ENSE00002425057_021 ENSE00002425057 021 3 130345270 130345439 + 59 63 48 A G 130345416 2911 147 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGGTCGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626571 130626572 130626572 downstr_intron 25 1.531915 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGGTCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 619 1122 0.7039134 0.8324321 0.7681728 0.9951465 0.9765665 0.9916873 0.9126242 NA NA -0.2877739 -0.08019203 0.9858565 0.9521557 NA -0.183983 NA FALSE NA 0 -0.049 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/27 rs200795085 1 NA GAT A,G 2.483e-05 3:130626572 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant 0.196561 0.14986 0.05969 0.061011 0.2412333 0.0937141 3.591687e-45 FALSE 2.84419e-05 ENSE00002425057_022 ENSE00002425057 022 3 130345270 130345439 + 59 63 48 C T 130345418 2912 149 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATTGGATTCTTGGAATCTTTTAGT 130626425 130626595 130626573 130626574 130626574 downstr_intron 27 1.574468 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATTGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 675 1585 0.9187101 0.9979298 0.95832 0.9951465 0.9765665 0.9916873 0.9126242 NA NA -0.07297718 0.08530566 0.9858565 0.9521557 NA 0.006164238 NA FALSE NA 0 0.003 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/27 1 NA TCG C,T 7.449e-05 3:130626574 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant 0.016436 0.16977 0.06281 0.061011 0.6078929 0.0937141 3.591687e-45 FALSE 8.94084e-05 ENSE00002425057_023 ENSE00002425057 023 3 130345270 130345439 + 59 63 48 G A 130345419 2913 150 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCAGATTCTTGGAATCTTTTAGT 130626425 130626595 130626574 130626575 130626575 downstr_intron 28 1.595745 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCAGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 392 148 0.9989454 0.9986702 0.9988078 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.007258117 0.08604608 0.9858565 0.9521557 NA 0.0466521 NA FALSE NA 0 -0.704 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/27 1 NA CGG G,A 5.794e-05 3:130626575 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant -0.170239 0.17418 0.01771 0.061011 0.5887689 0.0937141 3.591687e-45 FALSE 6.09746e-05 ENSE00002425057_024 ENSE00002425057 024 3 130345270 130345439 + 59 63 48 G A 130345428 2914 159 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGAAATCTTTTAGT 130626425 130626595 130626583 130626584 130626584 downstr_intron 37 1.787234 GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGAAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT mutant NA NA NA NA NA 167 1179 1 0.9923471 0.9961736 0.9951465 0.9765665 0.9916873 0.9126242 NA NA 0.008312705 0.07972298 0.9858565 0.9521557 NA 0.04401784 NA FALSE NA 0 -0.14 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 17/27 1 NA GGA G,A 8.277e-06 3:130626584 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003572784 intron_variant 0.25775 0.27573 0.05648 0.061011 0.735944 0.0937141 3.591687e-45 FALSE 4.06514e-06 ENSE00002425057_BRK ENSE00002425057 BRK 3 130345270 130345439 + 59 63 48 A,G; T,T NA NA NA GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACTTGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGCCTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT 130626425 130626595 NA NA NA NA NA NA GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACTTGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGCCTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT GCTGAATTAGTGCCATCATTTCCAATTTCCAACCTAAAAACAATCTTTCTGTTTAACAGGGAGAACCTGGAGATCTGGGAGAAAAAGGAGCTGTTGGCTTTCCTGGTCCTCGTGGCTTGCAGGTTTGTATTTTGACACTAGTTTTGATCGGATTCTTGGAATCTTTTAGT control 26 19 0 0 0 292 350 0 0.148889 0.0744445 0.9951465 0.9765665 0.9916873 0.9126242 -0.9951465 -0.9765665 -0.9916873 -0.7637352 0.9858565 0.9521557 -0.9858565 -0.8777112 0.1081452 TRUE TRUE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003572784 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002425392_000 ENSE00002425392 000 1 223949831 223950000 + 57 66 47 NA NA NA NA NA ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 NA NA NA NA NA NA ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG natural 54 60 0.9946138 0.9909412 0.9927775 3806 3704 0.9706738 0.8805165 0.9255951 0.9946138 0.9909412 0.9706738 0.8805165 0 0 0 0 0.9927775 0.9255951 0 0 0 FALSE FALSE NA NA NA NA NA CAPN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAPN2 NA NA NA ENSG00000162909 ENSE00003521864 NA NA NA NA NA NA NA 1.616179e-11 FALSE NA ENSE00002425392_001 ENSE00002425392 001 1 223949831 223950000 + 57 66 47 C G 223949842 5081 12 ACACTTGGTGTGATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762139 223762140 223762140 upstr_intron -46 -0.7894737 ACACTTGGTGTGATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 1598 341 0.9989133 0.9746446 0.986779 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02823954 0.09412814 0.9927775 0.9255951 NA 0.06118384 NA FALSE NA 0 -1.916 . intron_variant MODIFIER CAPN2 HGNC 1479 ENST00000433674 13/20 1 NA TCA C,G 8.236e-06 1:223762140 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 intron_variant 0.336638 0.23135 0.06652 0.069865 0.4947092 0.0476178 1.616179e-11 FALSE 4.11892e-06 ENSE00002425392_002 ENSE00002425392 002 1 223949831 223950000 + 57 66 47 C T 223949849 5082 19 ACACTTGGTGTCATGCCTTGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762146 223762147 223762147 upstr_intron -39 -0.6666667 ACACTTGGTGTCATGCCTTGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 321 228 1 1 1 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02932622 0.1194835 0.9927775 0.9255951 NA 0.07440488 NA FALSE NA 0 -1.027 rs191965706 intron_variant MODIFIER CAPN2 HGNC 1479 ENST00000433674 13/20 rs191965706 1 NA T:0.0002 T:0.0001 TCG C,T 6.589e-05 1:223762147 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 intron_variant 0.350935 0.1977 0.14693 0.069865 0.6378629 0.0476178 1.616179e-11 FALSE 6.95746e-05 ENSE00002425392_003 ENSE00002425392 003 1 223949831 223950000 + 57 66 47 G A 223949850 5083 20 ACACTTGGTGTCATGCCTCACTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762147 223762148 223762148 upstr_intron -38 -0.6491228 ACACTTGGTGTCATGCCTCACTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 963 114 0.9225583 1 0.9612792 0.9946138 0.9909412 0.9706738 0.8805165 NA NA -0.04811547 0.1194835 0.9927775 0.9255951 NA 0.03568403 NA FALSE NA 0 -0.39 . intron_variant MODIFIER CAPN2 HGNC 1479 ENST00000433674 13/20 1 NA CGC G,A 1.647e-05 1:223762148 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 intron_variant 0.088491 0.14635 0.01291 0.069865 0.6785375 0.0476178 1.616179e-11 FALSE 2.86076e-05 ENSE00002425392_004 ENSE00002425392 004 1 223949831 223950000 + 57 66 47 C A 223949880 5084 50 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCAACTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762177 223762178 223762178 upstr_intron -8 -0.122807 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCAACTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 682 809 0.9961976 0.9966376 0.9964176 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02552385 0.1161211 0.9927775 0.9255951 NA 0.07082249 NA FALSE NA 0 0.066 rs143006082 splice_region_variant&intron_variant LOW CAPN2 HGNC 1479 ENST00000433674 13/20 rs143006082 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 ACC C,A 8.236e-06 1:223762178 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 splice_region_variant 0.873445 0.3328 0.35122 0.162113 0.506619 0.0872784 1.616179e-11 FALSE 8.12955e-06 ENSE00002425392_005 ENSE00002425392 005 1 223949831 223950000 + 57 66 47 C T 223949890 5085 60 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTTGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762187 223762188 223762188 exon 3 0.04545455 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTTGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 234 1489 0.9608921 0.9758768 0.9683845 0.9946138 0.9909412 0.9706738 0.8805165 NA NA -0.009781684 0.09536037 0.9927775 0.9255951 NA 0.04278934 NA FALSE NA 0 -2.57 . splice_region_variant&synonymous_variant LOW CAPN2 HGNC 1479 ENST00000433674 14/21 rs536760820 1 NA TCG C,T 4.942e-05 1:223762188 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 splice_region_variant -0.096973 0.13447 0.0435 0.67177 0.3110602 0 1.616179e-11 FALSE 7.72358e-05 ENSE00002425392_006 ENSE00002425392 006 1 223949831 223950000 + 57 66 47 A T 223949897 5086 67 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCTGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762194 223762195 223762195 exon 10 0.1515152 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCTGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 803 462 0.9941515 1 0.9970758 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02347775 0.1194835 0.9927775 0.9255951 NA 0.07148065 NA FALSE NA 0 0.432 . missense_variant MODERATE CAPN2 HGNC 1479 ENST00000433674 14/21 1 deleterious(0.02) benign(0.157) NA CAG A,T 1.647e-05 1:223762195 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 missense_variant 1.383567 0.3448 0.44192 0.67177 0.8645193 0 1.616179e-11 FALSE 8.12691e-06 ENSE00002425392_007 ENSE00002425392 007 1 223949831 223950000 + 57 66 47 C T 223949899 5087 69 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGTGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762196 223762197 223762197 exon 12 0.1818182 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGTGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant 56 25 0.85 0.85 0.85 NA NA NA NA NA 0.9946138 0.9909412 0.9706738 0.8805165 -0.1446138 -0.1409412 NA NA 0.9927775 0.9255951 -0.1427775 NA NA NA FALSE 0 -2.044 . synonymous_variant LOW CAPN2 HGNC 1479 ENST00000433674 14/21 1 NA GCG C,T 8.236e-06 1:223762197 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 synonymous_variant 1.233273 0.15765 0.03882 0.67177 0.4951457 0 1.616179e-11 FALSE 4.06369e-06 ENSE00002425392_009 ENSE00002425392 009 1 223949831 223950000 + 57 66 47 T C 223949905 5089 75 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGACGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762202 223762203 223762203 exon 18 0.2727273 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGACGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 469 696 1 1 1 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02932622 0.1194835 0.9927775 0.9255951 NA 0.07440488 NA FALSE NA 0.035 -0.839 . synonymous_variant LOW CAPN2 HGNC 1479 ENST00000433674 14/21 rs540592253 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 8.236e-06 1:223762203 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 synonymous_variant -0.515813 0.24109 0.11728 0.67177 0.3636458 0 1.616179e-11 FALSE 4.0623e-06 ENSE00002425392_010 ENSE00002425392 010 1 223949831 223950000 + 57 66 47 A G 223949909 5090 79 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACGTTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762206 223762207 223762207 exon 22 0.3333333 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACGTTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 559 646 1 0.9862909 0.9931454 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02932622 0.1057744 0.9927775 0.9255951 NA 0.06755031 NA FALSE NA 1 4.788 . missense_variant MODERATE CAPN2 HGNC 1479 ENST00000433674 14/21 rs556721976 1 tolerated(0.43) benign(0.017) NA CAT A,G 8.236e-06 1:223762207 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 missense_variant 0.538761 0.95587 0.96683 0.67177 0.8693313 0 1.616179e-11 FALSE 4.06213e-05 ENSE00002425392_011 ENSE00002425392 011 1 223949831 223950000 + 57 66 47 T C 223949910 5091 80 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACACTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762207 223762208 223762208 exon 23 0.3484848 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACACTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 500 1046 0.964804 0.9999636 0.9823838 0.9946138 0.9909412 0.9706738 0.8805165 NA NA -0.005869812 0.1194471 0.9927775 0.9255951 NA 0.05678867 NA FALSE NA 1 7.454 . missense_variant MODERATE CAPN2 HGNC 1479 ENST00000433674 14/21 rs369150450 1 tolerated(0.18) benign(0.008) NA C:0.0002 C:0.0001 ATT T,C 3.295e-05 1:223762208 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 missense_variant 1.197918 0.97307 0.9912 0.67177 0.602371 0 1.616179e-11 FALSE 7.31226e-05 ENSE00002425392_012 ENSE00002425392 012 1 223949831 223950000 + 57 66 47 A T 223949929 5092 99 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGTCTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762226 223762227 223762227 exon -25 0.6363636 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGTCTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 833 65 0.9978561 1 0.998928 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02718228 0.1194835 0.9927775 0.9255951 NA 0.07333291 NA FALSE NA 0 -0.571 . missense_variant MODERATE CAPN2 HGNC 1479 ENST00000433674 14/21 1 tolerated(1) benign(0.018) NA GAC A,T 8.236e-06 1:223762227 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 missense_variant -0.382825 0.39255 0.23204 0.67177 0.3501905 0 1.616179e-11 FALSE 4.06319e-06 ENSE00002425392_014 ENSE00002425392 014 1 223949831 223950000 + 57 66 47 G C 223949936 5094 106 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTCCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762233 223762234 223762234 exon -18 0.7424242 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTCCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 621 1063 0.9999337 0.9990275 0.9994806 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02925993 0.118511 0.9927775 0.9255951 NA 0.07388547 NA FALSE NA 0.995 2.055 . missense_variant MODERATE CAPN2 HGNC 1479 ENST00000433674 14/21 rs372646959 1 deleterious(0.04) benign(0.052) NA C:0 C:0.0001 TGC G,C 0.000626 1:223762234 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 missense_variant 1.479543 0.87496 0.91375 0.706298 0.9273017 0 1.616179e-11 FALSE 0.00080041 ENSE00002425392_015 ENSE00002425392 015 1 223949831 223950000 + 57 66 47 C T 223949971 5095 141 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAATGATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762268 223762269 223762269 downstr_intron 18 1.391304 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAATGATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 353 216 0.9995327 0.9908804 0.9952066 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02885896 0.1103639 0.9927775 0.9255951 NA 0.06961145 NA FALSE NA 0 -0.328 . intron_variant MODIFIER CAPN2 HGNC 1479 ENST00000433674 14/20 1 NA ACG C,T 8.236e-06 1:223762269 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 intron_variant -0.171932 0.20873 0.0688 0.069865 0.5779596 0.046875 1.616179e-11 FALSE 1.21968e-05 ENSE00002425392_016 ENSE00002425392 016 1 223949831 223950000 + 57 66 47 G A 223949972 5096 142 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACAATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762269 223762270 223762270 downstr_intron 19 1.413043 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACAATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 109 750 1 0.9997968 0.9998984 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02932622 0.1192803 0.9927775 0.9255951 NA 0.07430327 NA FALSE NA 0 -2.307 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:223762270 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 intron_variant -0.852874 0.10141 0.01792 0.069865 0.4608872 0.046875 1.616179e-11 FALSE 2.43942e-05 ENSE00002425392_017 ENSE00002425392 017 1 223949831 223950000 + 57 66 47 G C 223949972 5097 142 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACCATGTTATGCACTCTGGTTGATGCAAAGG 223762128 223762298 223762269 223762270 223762270 downstr_intron 19 1.413043 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACCATGTTATGCACTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 252 350 1 0.9993449 0.9996725 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02932622 0.1188285 0.9927775 0.9255951 NA 0.07407734 NA FALSE NA 0 -2.307 NA NA NA CAPN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CAPN2 NA NA NA ENSG00000162909 ENSE00003521864 intron_variant -1.320301 0.1018 0.01823 0.069865 0.2722275 0.046875 1.616179e-11 FALSE 1.62628e-05 ENSE00002425392_018 ENSE00002425392 018 1 223949831 223950000 + 57 66 47 C T 223949983 5098 153 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCATTCTGGTTGATGCAAAGG 223762128 223762298 223762280 223762281 223762281 downstr_intron 30 1.652174 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCATTCTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 597 490 1 0.8885535 0.9442768 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02932622 0.008037085 0.9927775 0.9255951 NA 0.01868165 NA FALSE NA 0 -0.345 . intron_variant MODIFIER CAPN2 HGNC 1479 ENST00000433674 14/20 rs561955368 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACT C,T 8.236e-06 1:223762281 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 intron_variant 0.20468 0.23252 0.17405 0.069865 0.4520478 0.0615991 1.616179e-11 FALSE 4.06921e-06 ENSE00002425392_019 ENSE00002425392 019 1 223949831 223950000 + 57 66 47 C G 223949985 5099 155 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTGTGGTTGATGCAAAGG 223762128 223762298 223762282 223762283 223762283 downstr_intron 32 1.695652 ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTGTGGTTGATGCAAAGG ACACTTGGTGTCATGCCTCGCTCTGATGCATTCTCATGTCTCTGCCTCACCTTCCAGTTCGACATCAGCGAGGATGACATTGATGATGGATTCAGGAGACTGTTTGCCCAGTTGGCAGGAGAGGTAAATGTTCCCAAAAACGATGTTATGCACTCTGGTTGATGCAAAGG mutant NA NA NA NA NA 43 699 1 0.9997737 0.9998868 0.9946138 0.9909412 0.9706738 0.8805165 NA NA 0.02932622 0.1192572 0.9927775 0.9255951 NA 0.07429172 NA FALSE NA 0 1.234 . intron_variant MODIFIER CAPN2 HGNC 1479 ENST00000433674 14/20 rs529961549 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TCT C,G 0.0001812 1:223762283 CAPN2 HGNC Symbol protein_coding 74425 ENSG00000162909 ENSE00003521864 intron_variant -0.06798 0.19666 0.05016 0.069865 0.4758335 0.0615991 1.616179e-11 FALSE 0.000191384 ENSE00002425686_000 ENSE00002425686 000 3 130317152 130317321 + 57 66 47 NA NA NA NA NA ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT 130598307 130598477 NA NA NA NA NA NA ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT natural 66 39 0.8282933 0.9880627 0.908178 4884 4825 0.9013888 0.9891644 0.9452766 0.8282933 0.9880627 0.9013888 0.9891644 0 0 0 0 0.908178 0.9452766 0 0 0 FALSE FALSE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003489056 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002425686_001 ENSE00002425686 001 3 130317152 130317321 + 57 66 47 T C 130317180 2769 29 AAGCCCCACAGTTGTTGCATCACGATTTTACAAGCCCACGTAATTACTTGTCTTCCACGTTCTCCTTTCAAGCCTGTGGGTCCTTCTATGCTACTGTCAACTCCAGGAGCTCCCTAAAAATAGAAAATAAAGAGAAAAATTGATATATTTGGACATTTCTCCTTAAACAT 130598307 130598477 130598335 130598336 130598336 upstr_intron -29 -0.4912281 ATGTTTAAGGAGAAATGTCCAAATATATCAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 458 66 0.8823798 0.9649103 0.9236451 0.8282933 0.9880627 0.9013888 0.9891644 NA NA -0.01900895 -0.0242541 0.908178 0.9452766 NA -0.02163153 NA FALSE NA 0 0.194 rs75382560 intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 10/27 rs75382560 1 C:0.0060 C:0 C:0 NA C:0.0278 C:0 C:0.002 TTA T,C 0.0004583 3:130598336 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 intron_variant 0.017002 0.19633 0.06063 0.061011 0.6023145 0.0890112 3.591687e-45 FALSE 0.0016901 ENSE00002425686_002 ENSE00002425686 002 3 130317152 130317321 + 57 66 47 T G 130317183 2770 32 AAGCCCCACAGTTGTTGCATCACGATTTTACAAGCCCACGTAATTACTTGTCTTCCACGTTCTCCTTTCAAGCCTGTGGGTCCTTCTATGCTACTGTCAACTCCAGGAGCTCCCTAAAAATAGAAAATAAAGAGAAAACTTAATATATTTGGACATTTCTCCTTAAACAT 130598307 130598477 130598338 130598339 130598339 upstr_intron -26 -0.4385965 ATGTTTAAGGAGAAATGTCCAAATATATTAAGTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 374 199 1 1 1 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.09861123 0.01083562 0.908178 0.9452766 NA 0.05472342 NA FALSE NA 0 -0.16 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 10/27 1 NA ATT T,G 1.395e-05 3:130598339 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 intron_variant 0.075577 0.21117 0.12526 0.061011 0.6443228 0.13538 3.591687e-45 FALSE 1.33876e-05 ENSE00002425686_003 ENSE00002425686 003 3 130317152 130317321 + 57 66 47 T C 130317184 2771 33 AAGCCCCACAGTTGTTGCATCACGATTTTACAAGCCCACGTAATTACTTGTCTTCCACGTTCTCCTTTCAAGCCTGTGGGTCCTTCTATGCTACTGTCAACTCCAGGAGCTCCCTAAAAATAGAAAATAAAGAGAAAGATTAATATATTTGGACATTTCTCCTTAAACAT 130598307 130598477 130598339 130598340 130598340 upstr_intron -25 -0.4210526 ATGTTTAAGGAGAAATGTCCAAATATATTAATCTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 307 431 1 0.9954193 0.9977097 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.09861123 0.006254932 0.908178 0.9452766 NA 0.05243308 NA FALSE NA 0 -0.186 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 10/27 1 NA TTT T,C 1.383e-05 3:130598340 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 intron_variant 0.128156 0.1935 0.0551 0.061011 0.6873846 0.0890112 3.591687e-45 FALSE 6.6938e-06 ENSE00002425686_004 ENSE00002425686 004 3 130317152 130317321 + 57 66 47 T A 130317214 2772 63 AAGCCCCACAGTTGTTGCATCACGATTTTACAAGCCCACGTAATTACTTGTCTTCCACGTTCTCCTTTCAAGCCTGTGGGTCCTTCTATGCTACTGTCAACTCCAGGTGCTCCCTAAAAATAGAAAATAAAGAGAAAAATTAATATATTTGGACATTTCTCCTTAAACAT 130598307 130598477 130598369 130598370 130598370 exon 6 0.09090909 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCACCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 763 334 0.989857 0.999886 0.9948715 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.08846825 0.01072159 0.908178 0.9452766 NA 0.04959492 NA FALSE NA 0.849 1.098 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/28 1 NA CTC T,A 1.011e-05 3:130598370 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 synonymous_variant -0.210922 0.4068 0.40467 0.487112 0.4633418 0 3.591687e-45 FALSE 1.94719e-05 ENSE00002425686_005 ENSE00002425686 005 3 130317152 130317321 + 57 66 47 A G 130317235 2773 84 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATGGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT 130598307 130598477 130598390 130598391 130598391 exon 27 0.4090909 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATGGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 1867 581 0.9988834 1 0.9994417 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.09749459 0.01083562 0.908178 0.9452766 NA 0.0541651 NA FALSE NA 0.033 0.295 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/28 1 NA TAG A,G 4.813e-05 3:130598391 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 missense_variant 1.839966 0.58974 0.07026 0.487112 0.9749066 0 3.591687e-45 FALSE 3.83725e-05 ENSE00002425686_006 ENSE00002425686 006 3 130317152 130317321 + 57 66 47 C T 130317263 2774 112 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAATGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT 130598307 130598477 130598418 130598419 130598419 exon -12 0.8333333 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAATGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 640 673 0.9977729 0.9998868 0.9988298 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.09638408 0.01072244 0.908178 0.9452766 NA 0.05355326 NA FALSE NA 0.126 0.329 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/28 rs377422894 1 NA T:0.0003 T:0 ACG C,T 9.86e-06 3:130598419 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 missense_variant 4.143397 0.73671 0.06062 0.487112 0.9959309 0 3.591687e-45 FALSE NA ENSE00002425686_007 ENSE00002425686 007 3 130317152 130317321 + 57 66 47 C A 130317272 2775 121 AAGCCCCACAGTTGTTGCATCACGATTTTACAAGCCCACGTAATTACTTTTCTTCCACGTTCTCCTTTCAAGCCTGTGGGTCCTTCTATGCTACTGTCAACTCCAGGAGCTCCCTAAAAATAGAAAATAAAGAGAAAAATTAATATATTTGGACATTTCTCCTTAAACAT 130598307 130598477 130598427 130598428 130598428 exon -3 0.969697 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGAAAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 47 422 1 0.9893588 0.9946794 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.09861123 0.0001944108 0.908178 0.9452766 NA 0.04940282 NA FALSE NA 1 1.07 rs149354340 splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 11/28 rs149354340 1 A:0.0056 A:0.0204 A:0.0014 NA A:0 A:0 A:0 A:0.0107 A:0 ACA C,A 0.0006779 3:130598428 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 missense_variant 3.199307 0.96226 0.74437 0.487112 0.9494496 0 3.591687e-45 FALSE 0.000916401 ENSE00002425686_008 ENSE00002425686 008 3 130317152 130317321 + 57 66 47 A G 130317274 2776 123 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAGGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT 130598307 130598477 130598429 130598430 130598430 exon -1 1 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAGGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 998 21 0.8636556 0.9923932 0.9280244 0.8282933 0.9880627 0.9013888 0.9891644 NA NA -0.03773314 0.003228795 0.908178 0.9452766 NA -0.01725217 NA FALSE NA 0.989 0.032 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW COL6A6 HGNC 27023 ENST00000506143 11/28 rs574654717 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAG A,G 8.233e-05 3:130598430 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 splice_region_variant 0.850566 0.95575 0.32289 0.487112 0.756961 0 3.591687e-45 FALSE 7.09989e-05 ENSE00002425686_010 ENSE00002425686 010 3 130317152 130317321 + 57 66 47 G A 130317283 2778 132 AAGCCCCACAGTTGTTGCATCACGATTTTACAAGCCCATGTAATTACTTGTCTTCCACGTTCTCCTTTCAAGCCTGTGGGTCCTTCTATGCTACTGTCAACTCCAGGAGCTCCCTAAAAATAGAAAATAAAGAGAAAAATTAATATATTTGGACATTTCTCCTTAAACAT 130598307 130598477 130598438 130598439 130598439 downstr_intron 9 1.195652 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACATGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 777 127 0.9131582 0.9987527 0.9559554 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.01176946 0.009588273 0.908178 0.9452766 NA 0.01067887 NA FALSE NA 0.677 1.539 rs80272327 intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 rs80272327 1 A:0.0152 A:0.0098 A:0.0101 NA A:0.003 A:0.0229 A:0.0307 A:0.0151 A:0.0139 CGT G,A 0.007896 3:130598439 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 intron_variant 2.266625 0.87479 0.63475 0.061011 0.7558519 0.843066 3.591687e-45 FALSE 0.0140118 ENSE00002425686_011 ENSE00002425686 011 3 130317152 130317321 + 57 66 47 G A 130317286 2779 135 AAGCCCCACAGTTGTTGCATCACGATTTTACAAGCTCACGTAATTACTTGTCTTCCACGTTCTCCTTTCAAGCCTGTGGGTCCTTCTATGCTACTGTCAACTCCAGGAGCTCCCTAAAAATAGAAAATAAAGAGAAAAATTAATATATTTGGACATTTCTCCTTAAACAT 130598307 130598477 130598441 130598442 130598442 downstr_intron 12 1.26087 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGAGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 682 202 1 0.9976439 0.9988219 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.09861123 0.008479509 0.908178 0.9452766 NA 0.05354537 NA FALSE NA 0.999 3.121 . intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 1 NA GGG G,A 1.073e-05 3:130598442 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 intron_variant 2.186943 0.92862 0.88372 0.061011 0.7925686 0.975682 3.591687e-45 FALSE 1.30297e-05 ENSE00002425686_012 ENSE00002425686 012 3 130317152 130317321 + 57 66 47 G A 130317287 2780 136 AAGCCCCACAGTTGTTGCATCACGATTTTACAAGTCCACGTAATTACTTGTCTTCCACGTTCTCCTTTCAAGCCTGTGGGTCCTTCTATGCTACTGTCAACTCCAGGAGCTCCCTAAAAATAGAAAATAAAGAGAAAAATTAATATATTTGGACATTTCTCCTTAAACAT 130598307 130598477 130598442 130598443 130598443 downstr_intron 13 1.282609 ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGACTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT mutant NA NA NA NA NA 211 22 1 1 1 0.8282933 0.9880627 0.9013888 0.9891644 NA NA 0.09861123 0.01083562 0.908178 0.9452766 NA 0.05472342 NA FALSE NA 0.844 0.09 rs72994346 intron_variant&NMD_transcript_variant MODIFIER COL6A6 HGNC 27023 ENST00000506143 11/27 rs72994346 1 A:0.0116 A:0.0416 A:0.0029 NA A:0 A:0.001 A:0 A:0.02 A:0.0004 GGC G,A 0.001368 3:130598443 COL6A6 HGNC Symbol protein_coding 117821 ENSG00000206384 ENSE00003489056 intron_variant 1.278603 0.15021 0.03339 0.061011 0.6956299 0.162919 3.591687e-45 FALSE 0.00188244 ENSE00002425686_BRK ENSE00002425686 BRK 3 130317152 130317321 + 57 66 47 A,G; T,T NA NA NA ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTTTGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAACCAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT 130598307 130598477 NA NA NA NA NA NA ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTTTGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAACCAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT ATGTTTAAGGAGAAATGTCCAAATATATTAATTTTTCTCTTTATTTTCTATTTTTAGGGAGCTCCTGGAGTTGACAGTAGCATAGAAGGACCCACAGGCTTGAAAGGAGAACGTGGAAGACAAGTAATTACGTGGGCTTGTAAAATCGTGATGCAACAACTGTGGGGCTT control 16 18 0.85 0.85 0.85 NA NA NA NA NA 0.8282933 0.9880627 0.9013888 0.9891644 0.02170674 -0.1380627 NA NA 0.908178 0.9452766 -0.05817798 NA NA NA FALSE NA NA NA NA NA COL6A6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A6 NA NA NA ENSG00000206384 ENSE00003489056 NA NA NA NA NA NA NA 3.591687e-45 FALSE NA ENSE00002425852_000 ENSE00002425852 000 1 160582245 160582414 - 33 93 44 NA NA NA NA NA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 NA NA NA NA NA NA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA natural NA NA NA NA NA 1636 1325 0.9610917 0.9907557 0.9759237 NA NA 0.9610917 0.9907557 NA NA 0 0 NA 0.9759237 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLAMF1 NA NA NA ENSG00000117090 ENSE00003596272 NA NA NA NA NA NA NA 0.1354064 FALSE NA ENSE00002425852_002 ENSE00002425852 002 1 160582245 160582414 - 33 93 44 A C 160582263 3993 152 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCGGCCTACTCTCCGTAGAGA 160612454 160612624 160612472 160612473 160612473 downstr_intron 15 1.46875 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCGGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 962 301 0.8650994 1 0.9325497 NA NA 0.9610917 0.9907557 NA NA -0.09599231 0.009244259 NA 0.9759237 NA -0.04337403 NA FALSE NA 0 -0.138 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160612473 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 intron_variant 0.659722 0.15582 0.08427 0.283894 0.7473821 0.122376 0.1354064 FALSE 5.39876e-05 ENSE00002425852_003 ENSE00002425852 003 1 160582245 160582414 - 33 93 44 A G 160582263 3994 152 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCCGCCTACTCTCCGTAGAGA 160612454 160612624 160612472 160612473 160612473 downstr_intron 15 1.46875 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCCGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 200 445 0.9770008 0.9970382 0.9870195 NA NA 0.9610917 0.9907557 NA NA 0.01590915 0.006282507 NA 0.9759237 NA 0.01109583 NA FALSE NA 0 -0.138 NA NA NA SLAMF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLAMF1 NA NA NA ENSG00000117090 ENSE00003596272 intron_variant 0.911442 0.15633 0.06531 0.283894 0.7493795 0.122376 0.1354064 FALSE 0 ENSE00002425852_005 ENSE00002425852 005 1 160582245 160582414 - 33 93 44 C T 160582272 3996 143 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGACATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612481 160612482 160612482 downstr_intron 6 1.1875 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGACATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 1848 94 0.9973131 1 0.9986566 NA NA 0.9610917 0.9907557 NA NA 0.03622146 0.009244259 NA 0.9759237 NA 0.02273286 NA FALSE NA 0.031 -0.069 . splice_region_variant&intron_variant LOW SLAMF1 HGNC 10903 ENST00000538290 5/5 1 NA GCC C,T 8.238e-06 1:160612482 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 splice_region_variant 1.152541 0.16604 0.0732 0.283894 0.7061758 0.211929 0.1354064 FALSE NA ENSE00002425852_006 ENSE00002425852 006 1 160582245 160582414 - 33 93 44 C G 160582273 3997 142 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGACGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612482 160612483 160612483 downstr_intron 5 1.15625 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGACGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 400 673 0.9761789 1 0.9880895 NA NA 0.9610917 0.9907557 NA NA 0.01508725 0.009244259 NA 0.9759237 NA 0.01216576 NA FALSE NA 0.452 0.529 . splice_region_variant&intron_variant LOW SLAMF1 HGNC 10903 ENST00000538290 5/5 rs370549496 1 NA G:0.0002 G:0 CCT C,G 1.648e-05 1:160612483 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 splice_region_variant 1.086594 0.3288 0.25443 0.283894 0.8087781 0.215692 0.1354064 FALSE 2.47313e-05 ENSE00002425852_007 ENSE00002425852 007 1 160582245 160582414 - 33 93 44 C G 160582283 3998 132 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTCTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612492 160612493 160612493 exon -6 0.9462366 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTCTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 503 87 0.9995902 1 0.9997951 NA NA 0.9610917 0.9907557 NA NA 0.03849853 0.009244259 NA 0.9759237 NA 0.02387139 NA FALSE NA 0.702 0.957 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160612493 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 1.215331 0.23669 0.437 0.631515 0.9535782 0 0.1354064 FALSE 1.23098e-05 ENSE00002425852_008 ENSE00002425852 008 1 160582245 160582414 - 33 93 44 C T 160582283 3999 132 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTATCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612492 160612493 160612493 exon -6 0.9462366 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTATCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 18 328 0.9825195 1 0.9912597 NA NA 0.9610917 0.9907557 NA NA 0.02142781 0.009244259 NA 0.9759237 NA 0.01533603 NA FALSE NA 0.702 0.957 NA NA NA SLAMF1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLAMF1 NA NA NA ENSG00000117090 ENSE00003596272 missense_variant 1.102531 0.22709 0.35116 0.631515 0.9225547 0 0.1354064 FALSE 4.10327e-06 ENSE00002425852_009 ENSE00002425852 009 1 160582245 160582414 - 33 93 44 T G 160582290 4000 125 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCCGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612499 160612500 160612500 exon -13 0.8709677 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCCGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 100 334 1 1 1 NA NA 0.9610917 0.9907557 NA NA 0.03890833 0.009244259 NA 0.9759237 NA 0.02407629 NA FALSE NA 0.034 -0.161 . 3_prime_UTR_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 5/6 1 NA CTG T,G 1.647e-05 1:160612500 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant -0.410102 0.17301 0.0971 0.631515 0.4696854 0 0.1354064 FALSE 8.18786e-06 ENSE00002425852_010 ENSE00002425852 010 1 160582245 160582414 - 33 93 44 G A 160582292 4001 123 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCTCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612501 160612502 160612502 exon -15 0.8494624 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCTCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 144 89 0.9722707 1 0.9861353 NA NA 0.9610917 0.9907557 NA NA 0.01117899 0.009244259 NA 0.9759237 NA 0.01021163 NA FALSE NA 0.041 1.584 rs35207844 3_prime_UTR_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 5/6 rs35207844 1 A:0.0100 A:0.0363 A:0.0029 NA A:0 A:0 A:0 A:0.044 A:0.0001 GGG G,A 0.003979 1:160612502 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 2.772555 0.23309 0.1585 0.631515 0.9966677 0 0.1354064 FALSE 0.0031721 ENSE00002425852_011 ENSE00002425852 011 1 160582245 160582414 - 33 93 44 G A 160582293 4002 122 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTTCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612502 160612503 160612503 exon -16 0.8387097 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTTCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 848 50 1 0.9704186 0.9852093 NA NA 0.9610917 0.9907557 NA NA 0.03890833 -0.02033717 NA 0.9759237 NA 0.009285579 NA FALSE NA 0.015 0.057 . 3_prime_UTR_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 5/6 1 NA GGA G,A 8.238e-06 1:160612503 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 0.097086 0.15959 0.09537 0.631515 0.6418568 0 0.1354064 FALSE 4.09333e-06 ENSE00002425852_012 ENSE00002425852 012 1 160582245 160582414 - 33 93 44 C G 160582301 4003 114 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACACAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612510 160612511 160612511 exon -24 0.7526882 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACACAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 81 53 1 1 1 NA NA 0.9610917 0.9907557 NA NA 0.03890833 0.009244259 NA 0.9759237 NA 0.02407629 NA FALSE NA 0.253 1.673 . 3_prime_UTR_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 5/6 1 NA TCT C,G 8.238e-06 1:160612511 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 4.692447 0.88902 0.47815 0.631515 0.9973939 0 0.1354064 FALSE 4.09155e-06 ENSE00002425852_014 ENSE00002425852 014 1 160582245 160582414 - 33 93 44 T C 160582319 4005 96 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCGTATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612528 160612529 160612529 exon -42 0.5591398 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCGTATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 243 300 0.9993206 0.9812885 0.9903045 NA NA 0.9610917 0.9907557 NA NA 0.03822893 -0.009467277 NA 0.9759237 NA 0.01438083 NA FALSE NA 1 3.058 rs80261622 3_prime_UTR_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 5/6 rs80261622 1 C:0.0046 C:0.0166 C:0.0014 NA C:0 C:0 C:0 C:0.0113 C:0 ATG T,C 0.001326 1:160612529 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 4.251937 0.90491 0.78926 0.631515 0.9990278 0 0.1354064 FALSE 0.000984598 ENSE00002425852_017 ENSE00002425852 017 1 160582245 160582414 - 33 93 44 G T 160582332 4008 83 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGAACCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612541 160612542 160612542 exon 39 0.4193548 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGAACCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 629 99 0.9916109 1 0.9958054 NA NA 0.9610917 0.9907557 NA NA 0.03051919 0.009244259 NA 0.9759237 NA 0.01988173 NA FALSE NA 1 0.572 rs138970511 3_prime_UTR_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 5/6 rs138970511 1 NA T:0 T:0.0001 GGT G,T 8.237e-06 1:160612542 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 2.739521 0.86207 0.71209 0.631515 0.9911336 0 0.1354064 FALSE 4.08377e-06 ENSE00002425852_020 ENSE00002425852 020 1 160582245 160582414 - 33 93 44 G C 160582343 4011 72 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCGCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612552 160612553 160612553 exon 28 0.3010753 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCGCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 18 25 1 1 1 NA NA 0.9610917 0.9907557 NA NA 0.03890833 0.009244259 NA 0.9759237 NA 0.02407629 NA FALSE NA 0 -0.12 . 3_prime_UTR_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 5/6 1 NA GGG G,C 8.237e-06 1:160612553 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 0.535913 0.16679 0.08379 0.631515 0.9127185 0 0.1354064 FALSE 2.04297e-05 ENSE00002425852_021 ENSE00002425852 021 1 160582245 160582414 - 33 93 44 C T 160582352 4012 63 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTAACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612561 160612562 160612562 exon 19 0.2043011 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTAACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 285 16 1 0.9975854 0.9987927 NA NA 0.9610917 0.9907557 NA NA 0.03890833 0.006829671 NA 0.9759237 NA 0.022869 NA FALSE NA 0.628 1.681 . stop_retained_variant LOW SLAMF1 HGNC 10903 ENST00000538290 5/6 1 NA TCA C,T 2.471e-05 1:160612562 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 2.76355 0.31122 0.41514 0.631515 0.9974837 0 0.1354064 FALSE 1.63744e-05 ENSE00002425852_022 ENSE00002425852 022 1 160582245 160582414 - 33 93 44 A G 160582353 4013 62 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTCGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612562 160612563 160612563 exon 18 0.1935484 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTCGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 202 280 0.9969034 0.8256467 0.911275 NA NA 0.9610917 0.9907557 NA NA 0.03581171 -0.1651091 NA 0.9759237 NA -0.06464868 NA FALSE NA 0.568 1.366 . stop_lost HIGH SLAMF1 HGNC 10903 ENST00000538290 5/6 rs371587106 1 NA CAA A,G 8.237e-06 1:160612563 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 0.045225 0.19476 0.23952 0.631515 0.6181888 0 0.1354064 FALSE 8.18518e-06 ENSE00002425852_024 ENSE00002425852 024 1 160582245 160582414 - 33 93 44 G A 160582369 4015 46 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCTTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612578 160612579 160612579 exon 2 0.02150538 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCTTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 367 96 0.9864269 1 0.9932134 NA NA 0.9610917 0.9907557 NA NA 0.0253352 0.009244259 NA 0.9759237 NA 0.01728973 NA FALSE NA 0.007 1.576 . splice_region_variant&synonymous_variant LOW SLAMF1 HGNC 10903 ENST00000538290 5/6 1 NA AGG G,A 2.471e-05 1:160612579 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 missense_variant 0.583406 0.18388 0.15292 0.631515 0.701058 0 0.1354064 FALSE 2.46842e-05 ENSE00002425852_027 ENSE00002425852 027 1 160582245 160582414 - 33 93 44 A C 160582378 4018 37 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCGCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612587 160612588 160612588 upstr_intron -8 -0.1590909 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCGCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 95 97 1 1 1 NA NA 0.9610917 0.9907557 NA NA 0.03890833 0.009244259 NA 0.9759237 NA 0.02407629 NA FALSE NA 0 0.06 . splice_region_variant&intron_variant LOW SLAMF1 HGNC 10903 ENST00000538290 4/5 1 NA GAG A,C 8.239e-06 1:160612588 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 splice_region_variant -0.422277 0.18225 0.11766 0.160901 0.6915925 0.19301 0.1354064 FALSE 4.18001e-06 ENSE00002425852_028 ENSE00002425852 028 1 160582245 160582414 - 33 93 44 C A 160582383 4019 32 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTTCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612592 160612593 160612593 upstr_intron -13 -0.2727273 GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTTCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 27 252 1 0.9986291 0.9993146 NA NA 0.9610917 0.9907557 NA NA 0.03890833 0.007873399 NA 0.9759237 NA 0.02339086 NA FALSE NA 0.003 0.187 . intron_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 4/5 1 NA GCA C,A 8.239e-06 1:160612593 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 intron_variant 0.345065 0.15478 0.11662 0.283894 0.6720764 0.191563 0.1354064 FALSE NA ENSE00002425852_029 ENSE00002425852 029 1 160582245 160582414 - 33 93 44 G A 160582394 4020 21 GCTCTCTCTGTTCAGCTAATTTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA 160612454 160612624 160612603 160612604 160612604 upstr_intron -24 -0.5227273 GCTCTCTCTGTTCAGCTAATTTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA GCTCTCTCTGTTCAGCTAATCTGCTTTCTTTGCTTCTCTTGTAGCCTCTTCAGAAGAAACTTGACTCCTTCCCAGCTCAGGACCCTTGCACCACCATATATGTTGCTGCCACAGAGCCTGTCCCAGAGTCTGTCCAGGTGAGGCATCTCTCTGCCTACTCTCCGTAGAGA mutant NA NA NA NA NA 93 465 1 1 1 NA NA 0.9610917 0.9907557 NA NA 0.03890833 0.009244259 NA 0.9759237 NA 0.02407629 NA FALSE NA 0.002 0.492 rs114760384 intron_variant MODIFIER SLAMF1 HGNC 10903 ENST00000538290 4/5 rs114760384 1 A:0.0046 A:0.0174 A:0 NA A:0 A:0 A:0 A:0.0177 A:0.0001 AGA G,A 0.00164 1:160612604 SLAMF1 HGNC Symbol protein_coding 39195 ENSG00000117090 ENSE00003596272 intron_variant 0.089044 0.14033 0.097 0.283894 0.6937058 0.126967 0.1354064 FALSE 0.0012026 ENSE00002426612_000 ENSE00002426612 000 X 38540410 38540579 + 48 84 38 NA NA NA NA NA TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT 38681155 38681325 NA NA NA NA NA NA TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT natural 80 86 0.9673256 0.9724731 0.9698994 2457 831 0.9899651 0.9899346 0.9899499 0.9673256 0.9724731 0.9899651 0.9899346 0 0 0 0 0.9698994 0.9899499 0 0 0 FALSE FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA ANGPT2 NA NA NA NA ENSE00003499086 NA NA NA NA NA NA NA 0.454891 FALSE NA ENSE00002426612_003 ENSE00002426612 003 X 38540410 38540579 + 48 84 38 G A 38540436 339 27 TGGCCTGAGTGAAAACATGTCTCCAAAACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT 38681155 38681325 38681181 38681182 38681182 upstr_intron -22 -0.4375 TGGCCTGAGTGAAAACATGTCTCCAAAACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT mutant NA NA NA NA NA 128 767 1 1 1 0.9673256 0.9724731 0.9899651 0.9899346 NA NA 0.01003486 0.01006536 0.9698994 0.9899499 NA 0.01005011 NA FALSE NA 0.03 0.878 NA NA NA TSPAN7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN7 NA NA NA ENSG00000156298 ENSE00003499086 intron_variant 0.47051 0.20011 0.01579 0 0.8027494 0.0541416 0.8699501 FALSE 5.62268e-06 ENSE00002426612_BRK ENSE00002426612 BRK X 38540410 38540579 + 48 84 38 A,G; T,T NA NA NA TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCTTGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGCCAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT 38681155 38681325 NA NA NA NA NA NA TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCTTGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGCCAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT control NA NA NA NA NA 355 1685 0.1193071 0.02450813 0.0719076 0.9673256 0.9724731 0.9899651 0.9899346 NA NA -0.8706581 -0.9654265 0.9698994 0.9899499 NA -0.9180423 NA TRUE NA NA NA NA NA NA TSPAN7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA TSPAN7 NA NA NA ENSG00000156298 ENSE00003499086 NA NA NA NA NA NA NA 0.8699501 FALSE NA ENSE00002427972_000 ENSE00002427972 000 2 231405962 231406131 + 54 72 44 NA NA NA NA NA GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTATACTGGCATTTGTCAA 230541246 230541416 NA NA NA NA NA NA GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTATACTGGCATTTGTCAA GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTATACTGGCATTTGTCAA natural NA NA NA NA NA 650 439 0.9984063 0.9938409 0.9961236 NA NA 0.9984063 0.9938409 NA NA 0 0 NA 0.9961236 NA 0 NA FALSE NA NA NA NA NA NA AC010149.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC010149.1 NA NA NA ENSG00000235419 ENSE00003588497 NA NA NA NA NA NA NA NA NA NA ENSE00002427972_BRK ENSE00002427972 BRK 2 231405962 231406131 + 54 72 44 A,G; T,T NA NA NA GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCTTAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATCCAAGTAACAGCCAAACAAAAATGCTTATACTGGCATTTGTCAA 230541246 230541416 NA NA NA NA NA NA GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCTTAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATCCAAGTAACAGCCAAACAAAAATGCTTATACTGGCATTTGTCAA GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTATACTGGCATTTGTCAA control NA NA NA NA NA 215 764 0 0.0008981803 0.0004490902 NA NA 0.9984063 0.9938409 NA NA -0.9984063 -0.9929427 NA 0.9961236 NA -0.9956745 NA TRUE NA NA NA NA NA NA AC010149.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA AC010149.1 NA NA NA ENSG00000235419 ENSE00003588497 NA NA NA NA NA NA NA NA NA NA ENSE00002428145_000 ENSE00002428145 000 6 162475085 162475254 - 38 84 48 NA NA NA NA NA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 NA NA NA NA NA NA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA natural NA NA NA NA NA 2257 1822 0.9900778 0.9978356 0.9939567 NA NA 0.9900778 0.9978356 NA NA 0 0 NA 0.9939567 NA 0 NA FALSE NA NA NA NA NA NA PARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PRKN NA NA NA ENSG00000185345 ENSE00003540557 NA NA NA NA NA NA NA NA NA NA ENSE00002428145_001 ENSE00002428145 001 6 162475085 162475254 - 38 84 48 A G 162475095 2726 160 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCCTATTGCAAGA 162054052 162054222 162054062 162054063 162054063 downstr_intron 28 1.756757 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCCTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 29 278 1 1 1 NA NA 0.9900778 0.9978356 NA NA 0.009922211 0.002164414 NA 0.9939567 NA 0.006043312 NA FALSE NA 0.002 0.17 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs201748755 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 AAG A,G 4.942e-05 6:162054063 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant 0.214532 0.21402 0.07125 0.053691 0.4942949 0.0689414 NA NA 8.12638e-05 ENSE00002428145_002 ENSE00002428145 002 6 162475085 162475254 - 38 84 48 G T 162475098 2727 157 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCATCTTATTGCAAGA 162054052 162054222 162054065 162054066 162054066 downstr_intron 25 1.675676 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCATCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 372 1655 0.9771214 0.9989786 0.98805 NA NA 0.9900778 0.9978356 NA NA -0.01295639 0.00114303 NA 0.9939567 NA -0.00590668 NA FALSE NA 0 -0.264 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA AGG G,T 1.647e-05 6:162054066 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant -0.245926 0.1185 0.00933 0.053691 0.4357086 0.0689414 NA NA 2.84428e-05 ENSE00002428145_003 ENSE00002428145 003 6 162475085 162475254 - 38 84 48 G C 162475099 2728 156 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTGCTCTTATTGCAAGA 162054052 162054222 162054066 162054067 162054067 downstr_intron 24 1.648649 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTGCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 661 389 0.9117138 0.9944312 0.9530725 NA NA 0.9900778 0.9978356 NA NA -0.07836403 -0.003404422 NA 0.9939567 NA -0.04088422 NA FALSE NA 0 -1.104 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA GGA G,C 8.236e-06 6:162054067 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant -0.429054 0.12151 0.01577 0.053691 0.4183195 0.0689414 NA NA 4.06332e-06 ENSE00002428145_005 ENSE00002428145 005 6 162475085 162475254 - 38 84 48 A G 162475110 2730 145 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGCCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054077 162054078 162054078 downstr_intron 13 1.351351 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGCCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 640 495 0.8258245 1 0.9129122 NA NA 0.9900778 0.9978356 NA NA -0.1642533 0.002164414 NA 0.9939567 NA -0.08104445 NA FALSE NA 0 0.581 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs528221295 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 GAC A,G 8.236e-06 6:162054078 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant 0.203507 0.16244 0.01154 0.053691 0.4738254 0.0689414 NA NA 4.06263e-06 ENSE00002428145_006 ENSE00002428145 006 6 162475085 162475254 - 38 84 48 C T 162475127 2731 128 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAATGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054094 162054095 162054095 exon -5 0.952381 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAATGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 912 167 0.9961782 1 0.9980891 NA NA 0.9900778 0.9978356 NA NA 0.006100434 0.002164414 NA 0.9939567 NA 0.004132424 NA FALSE NA 0 -2.751 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs200985148 1 NA ACT C,T 1.647e-05 6:162054095 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant -1.480837 0.11966 0.01138 0.487112 0.4456003 0 NA NA 1.62507e-05 ENSE00002428145_007 ENSE00002428145 007 6 162475085 162475254 - 38 84 48 T A 162475131 2732 124 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGTCTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054098 162054099 162054099 exon -9 0.9047619 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGTCTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 62 167 0.9899623 1 0.9949811 NA NA 0.9900778 0.9978356 NA NA -0.000115495 0.002164414 NA 0.9939567 NA 0.00102446 NA FALSE NA 0.99 2.565 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA GTC T,A 8.236e-06 6:162054099 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 2.774293 0.98069 0.81838 0.487112 0.9910722 0 NA NA 1.21879e-05 ENSE00002428145_008 ENSE00002428145 008 6 162475085 162475254 - 38 84 48 G A 162475145 2733 110 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCTACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054112 162054113 162054113 exon -23 0.7380952 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCTACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 1608 281 0.9993584 0.9982197 0.9987891 NA NA 0.9900778 0.9978356 NA NA 0.009280625 0.0003841124 NA 0.9939567 NA 0.004832369 NA FALSE NA 0.196 1.806 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA TGG G,A 8.236e-06 6:162054113 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 2.777814 0.84191 0.57314 0.487112 0.2229371 0 NA NA 4.06256e-06 ENSE00002428145_010 ENSE00002428145 010 6 162475085 162475254 - 38 84 48 C T 162475160 2735 95 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGATGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054127 162054128 162054128 exon -38 0.5595238 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGATGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 123 467 0.9820815 0.9999185 0.991 NA NA 0.9900778 0.9978356 NA NA -0.007996318 0.002082881 NA 0.9939567 NA -0.002956719 NA FALSE NA 0.909 3.952 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA ACC C,T 8.236e-06 6:162054128 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 5.486936 0.95215 0.77814 0.487112 0.9981581 0 NA NA 4.06296e-06 ENSE00002428145_011 ENSE00002428145 011 6 162475085 162475254 - 38 84 48 A G 162475162 2736 93 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGCGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054129 162054130 162054130 exon -40 0.5357143 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGCGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 355 251 0.9969464 1 0.9984732 NA NA 0.9900778 0.9978356 NA NA 0.006868599 0.002164414 NA 0.9939567 NA 0.004516507 NA FALSE NA 0.139 -0.217 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA CAC A,G 8.236e-06 6:162054130 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 synonymous_variant -0.42686 0.76782 0.06504 0.487112 0.5038377 0 NA NA NA ENSE00002428145_012 ENSE00002428145 012 6 162475085 162475254 - 38 84 48 T G 162475167 2737 88 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGCTGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054134 162054135 162054135 exon 40 0.4761905 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGCTGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 856 91 1 1 1 NA NA 0.9900778 0.9978356 NA NA 0.009922211 0.002164414 NA 0.9939567 NA 0.006043312 NA FALSE NA 0.989 2.591 NA NA NA PARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:162054135 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 start_lost 4.760017 0.9814 0.80913 0.487112 0.9475506 0 NA NA 0.00429472 ENSE00002428145_014 ENSE00002428145 014 6 162475085 162475254 - 38 84 48 C T 162475169 2739 86 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCAGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054136 162054137 162054137 exon 38 0.452381 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCAGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 200 47 1 0.9849331 0.9924665 NA NA 0.9900778 0.9978356 NA NA 0.009922211 -0.01290252 NA 0.9939567 NA -0.001490155 NA FALSE NA 0.022 -0.374 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs530632014 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCG C,T 2.471e-05 6:162054137 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 3.908551 0.95764 0.06582 0.487112 0.9991331 0 NA NA 2.43809e-05 ENSE00002428145_015 ENSE00002428145 015 6 162475085 162475254 - 38 84 48 G A 162475170 2740 85 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACTGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054137 162054138 162054138 exon 37 0.4404762 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACTGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 381 14 1 1 1 NA NA 0.9900778 0.9978356 NA NA 0.009922211 0.002164414 NA 0.9939567 NA 0.006043312 NA FALSE NA 0.961 3.181 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 COSM595084&COSM1650557 1 NA CGG G,A 4.942e-05 6:162054138 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 7.544314 0.97386 0.70633 0.487112 0.9989349 0 NA NA 5.28253e-05 ENSE00002428145_016 ENSE00002428145 016 6 162475085 162475254 - 38 84 48 T C 162475173 2741 82 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAGACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054140 162054141 162054141 exon 34 0.4047619 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAGACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 13 116 0.8123246 1 0.9061623 NA NA 0.9900778 0.9978356 NA NA -0.1777532 0.002164414 NA 0.9939567 NA -0.08779437 NA FALSE NA 1 1.786 rs149060668 intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs149060668 1 NA C:0.0007 C:0 TTT T,C 1.647e-05 6:162054141 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 2.309974 0.97202 0.71825 0.487112 0.9947666 0 NA NA 8.12638e-06 ENSE00002428145_017 ENSE00002428145 017 6 162475085 162475254 - 38 84 48 G A 162475176 2742 79 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTTCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054143 162054144 162054144 exon 31 0.3690476 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTTCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 880 453 1 1 1 NA NA 0.9900778 0.9978356 NA NA 0.009922211 0.002164414 NA 0.9939567 NA 0.006043312 NA FALSE NA 1 2.523 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA GGA G,A 8.236e-06 6:162054144 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 4.392617 0.96824 0.79018 0.487112 0.9850404 0 NA NA 4.06342e-06 ENSE00002428145_019 ENSE00002428145 019 6 162475085 162475254 - 38 84 48 A G 162475186 2744 69 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGACGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054153 162054154 162054154 exon 21 0.25 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGACGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 115 533 1 1 1 NA NA 0.9900778 0.9978356 NA NA 0.009922211 0.002164414 NA 0.9939567 NA 0.006043312 NA FALSE NA 0.997 0.716 NA NA NA PARK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:162054154 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 synonymous_variant 0.252933 0.96517 0.57388 0.487112 0.5832185 0 NA NA 4.06375e-06 ENSE00002428145_020 ENSE00002428145 020 6 162475085 162475254 - 38 84 48 T G 162475187 2745 68 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGCTGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054154 162054155 162054155 exon 20 0.2380952 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGCTGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 462 189 0.9955845 1 0.9977922 NA NA 0.9900778 0.9978356 NA NA 0.005506695 0.002164414 NA 0.9939567 NA 0.003835554 NA FALSE NA 1 4.055 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA ATC T,G 8.236e-06 6:162054155 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 6.534392 0.98034 0.88286 0.487112 0.9960929 0 NA NA 4.06398e-06 ENSE00002428145_022 ENSE00002428145 022 6 162475085 162475254 - 38 84 48 T A 162475190 2747 65 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGTTGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054157 162054158 162054158 exon 17 0.202381 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGTTGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 548 818 1 0.9960914 0.9980457 NA NA 0.9900778 0.9978356 NA NA 0.009922211 -0.001744147 NA 0.9939567 NA 0.004089032 NA FALSE NA 0.998 4.055 rs142383136 intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs142383136 1 NA A:0 A:0.0003 ATC T,A 2.471e-05 6:162054158 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 6.293848 0.98165 0.87792 0.487112 0.992623 0 NA NA 3.25148e-05 ENSE00002428145_023 ENSE00002428145 023 6 162475085 162475254 - 38 84 48 C T 162475205 2748 50 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGATCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054172 162054173 162054173 exon 2 0.02380952 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGATCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 60 296 1 1 1 NA NA 0.9900778 0.9978356 NA NA 0.009922211 0.002164414 NA 0.9939567 NA 0.006043312 NA FALSE NA 0.998 2.512 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs370479735&CD983922 1 NA T:0 T:0.0001 ACC C,T 1.647e-05 6:162054173 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 missense_variant 3.70986 0.97453 0.76136 0.487112 0.9918348 0 NA NA 8.13319e-06 ENSE00002428145_024 ENSE00002428145 024 6 162475085 162475254 - 38 84 48 A T 162475215 2749 40 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTATCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054182 162054183 162054183 upstr_intron -9 -0.1666667 ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTATCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 154 195 1 0.9802859 0.9901429 NA NA 0.9900778 0.9978356 NA NA 0.009922211 -0.0175497 NA 0.9939567 NA -0.003813744 NA FALSE NA 0 -0.234 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs201039350&CS094591 1 NA T:0 T:0.0009 AAA A,T 0.0003706 6:162054183 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant -0.04258 0.19011 0.02543 0.053691 0.618232 0.127384 NA NA 0.00046398 ENSE00002428145_025 ENSE00002428145 025 6 162475085 162475254 - 38 84 48 A G 162475225 2750 30 ATTTCTATTATAACTCATATAAGCATATACTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054192 162054193 162054193 upstr_intron -19 -0.375 ATTTCTATTATAACTCATATAAGCATATACTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 26 527 1 1 1 NA NA 0.9900778 0.9978356 NA NA 0.009922211 0.002164414 NA 0.9939567 NA 0.006043312 NA FALSE NA 0 0.028 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA AAT A,G 8.237e-06 6:162054193 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant 0.249142 0.17347 0.01327 0.053691 0.8351806 0.0504749 NA NA 4.08574e-06 ENSE00002428145_026 ENSE00002428145 026 6 162475085 162475254 - 38 84 48 A G 162475227 2751 28 ATTTCTATTATAACTCATATAAGCATACATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054194 162054195 162054195 upstr_intron -21 -0.4166667 ATTTCTATTATAACTCATATAAGCATACATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 51 664 1 0.9812356 0.9906178 NA NA 0.9900778 0.9978356 NA NA 0.009922211 -0.01659995 NA 0.9939567 NA -0.00333887 NA FALSE NA 0 0.612 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA TAT A,G 8.237e-06 6:162054195 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant -0.143538 0.17084 0.07539 0.053691 0.4422007 0.0504749 NA NA 8.17768e-06 ENSE00002428145_027 ENSE00002428145 027 6 162475085 162475254 - 38 84 48 T C 162475230 2752 25 ATTTCTATTATAACTCATATAAGCGTATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054197 162054198 162054198 upstr_intron -24 -0.4791667 ATTTCTATTATAACTCATATAAGCGTATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 491 390 0.9989898 1 0.9994949 NA NA 0.9900778 0.9978356 NA NA 0.008912061 0.002164414 NA 0.9939567 NA 0.005538237 NA FALSE NA 0 -0.003 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs368945837 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 C:0.0002 C:0 ATG T,C 8.237e-06 6:162054198 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant -0.058661 0.14867 0.00892 0.053691 0.4732523 0.0504749 NA NA 4.09045e-06 ENSE00002428145_028 ENSE00002428145 028 6 162475085 162475254 - 38 84 48 G A 162475231 2753 24 ATTTCTATTATAACTCATATAAGTATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054198 162054199 162054199 upstr_intron -25 -0.5 ATTTCTATTATAACTCATATAAGTATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 474 89 0.9993034 1 0.9996517 NA NA 0.9900778 0.9978356 NA NA 0.009225561 0.002164414 NA 0.9939567 NA 0.005694987 NA FALSE NA 0 -2.765 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA TGC G,A 1.647e-05 6:162054199 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant -0.308767 0.06604 0.00443 0.053691 0.4955914 0.0443366 NA NA 2.45877e-05 ENSE00002428145_029 ENSE00002428145 029 6 162475085 162475254 - 38 84 48 T G 162475233 2754 22 ATTTCTATTATAACTCATATACGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054200 162054201 162054201 upstr_intron -27 -0.5416667 ATTTCTATTATAACTCATATACGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 97 76 1 1 1 NA NA 0.9900778 0.9978356 NA NA 0.009922211 0.002164414 NA 0.9939567 NA 0.006043312 NA FALSE NA 0 0.343 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 rs370785453 1 NA G:0 G:0.0001 CTT T,G 4.943e-05 6:162054201 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant 0.139604 0.16757 0.0047 0.053691 0.5325935 0.0443366 NA NA 6.60387e-05 ENSE00002428145_030 ENSE00002428145 030 6 162475085 162475254 - 38 84 48 A G 162475237 2755 18 ATTTCTATTATAACTCACATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA 162054052 162054222 162054204 162054205 162054205 upstr_intron -31 -0.625 ATTTCTATTATAACTCACATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA ATTTCTATTATAACTCATATAAGCATATATTGTTGTTTTTTCCCAAAGGGTCCATCTTGCTGGGATGATGTTTTAATTCCAAACCGGATGAGTGGTGAATGCCAATCCCCACACTGCCCTGGGACTAGTGCAGTAAGTACCTGGTCACATTCATTCCTCTTATTGCAAGA mutant NA NA NA NA NA 60 151 1 0.9893792 0.9946896 NA NA 0.9900778 0.9978356 NA NA 0.009922211 -0.008456374 NA 0.9939567 NA 0.0007329186 NA FALSE NA 0 0.447 . intron_variant MODIFIER PARK2 HGNC 8607 ENST00000366897 4/10 1 NA TAT A,G 8.238e-06 6:162054205 PRKN HGNC Symbol protein_coding 1380351 ENSG00000185345 ENSE00003540557 intron_variant -0.040129 0.13753 0.01496 0.053691 0.3134978 0.0443366 NA NA 1.2424e-05 ENSE00002428465_000 ENSE00002428465 000 1 224872432 224872601 + 66 48 56 NA NA NA NA NA CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC 224684729 224684899 NA NA NA NA NA NA CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC natural NA NA NA NA NA 868 308 0.9892884 0.9907561 0.9900223 NA NA 0.9892884 0.9907561 NA NA 0 0 NA 0.9900223 NA 0 NA FALSE NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA CNIH3 NA NA NA ENSG00000143786 ENSE00003483736 NA NA NA NA NA NA NA 0.3818184 FALSE NA ENSE00002428465_016 ENSE00002428465 016 1 224872432 224872601 + 66 48 56 C T 224872540 5130 109 CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGTGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC 224684729 224684899 224684837 224684838 224684838 exon -6 0.8958333 CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGTGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC mutant 10 11 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9892884 0.9907561 NA NA NA NA NA 0.9900223 NA NA NA NA NA 0.962 -0.006 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:224684838 CNIH3 HGNC Symbol protein_coding 305889 ENSG00000143786 ENSE00003483736 stop_gained 12.49979 0.94915 0.55318 0.638212 0.9978264 0 0.3818184 FALSE 1.21903e-05 ENSE00002428465_022 ENSE00002428465 022 1 224872432 224872601 + 66 48 56 A C 224872563 5136 132 CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCCTGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC 224684729 224684899 224684860 224684861 224684861 downstr_intron 18 1.327273 CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCCTGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC mutant NA NA NA NA NA 922 37 1 0.9663663 0.9831831 NA NA 0.9892884 0.9907561 NA NA 0.01071156 -0.02438982 NA 0.9900223 NA -0.006839128 NA FALSE NA 0 -3.35 NA NA NA CNIH3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:224684861 CNIH3 HGNC Symbol protein_coding 305889 ENSG00000143786 ENSE00003483736 intron_variant -0.630583 0.07417 0.00618 0.061011 0.3581605 0.0455939 0.3818184 FALSE 1.219e-05 ENSE00002428465_029 ENSE00002428465 029 1 224872432 224872601 + 66 48 56 G C 224872586 5143 155 CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATCGTGGTGGGTGGGCAC 224684729 224684899 224684883 224684884 224684884 downstr_intron 41 1.745455 CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATCGTGGTGGGTGGGCAC CTTCTCATGCTATTTTAGCAGAACCCCTAACCTCCCCTCTCATTTCTTTCTTGTGCATCCTGATAGAGGGAACGGTTGAGGAACATCGAGCGCATCTGCTTCCTTCTGCGAAAGGTCAGTGTGGCAGCTTCATGCCGAGGATGGAGGATCGCATGGTGGTGGGTGGGCAC mutant NA NA NA NA NA 68 581 1 1 1 NA NA 0.9892884 0.9907561 NA NA 0.01071156 0.009243889 NA 0.9900223 NA 0.009977725 NA FALSE NA 0.008 1.365 . intron_variant MODIFIER CNIH3 HGNC 26802 ENST00000272133 3/5 1 NA TGG G,C 8.236e-06 1:224684884 CNIH3 HGNC Symbol protein_coding 305889 ENSG00000143786 ENSE00003483736 intron_variant -0.146528 0.1928 0.1746 0.061011 0.4016795 0.0455939 0.3818184 FALSE 4.06448e-06 ENSE00002428599_000 ENSE00002428599 000 1 202397930 202398099 + 53 75 42 NA NA NA NA NA CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 NA NA NA NA NA NA CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT natural 28 36 0.9930063 0.995609 0.9943077 9777 7949 0.9394464 0.907552 0.9234992 0.9930063 0.995609 0.9394464 0.907552 0 0 0 0 0.9943077 0.9234992 0 0 0 FALSE FALSE NA NA NA NA NA PPP1R12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R12B NA NA NA ENSG00000077157 ENSE00003475535 NA NA NA NA NA NA NA 0.1244546 FALSE NA ENSE00002428599_001 ENSE00002428599 001 1 202397930 202398099 + 53 75 42 A G 202397953 4623 24 CGTAATTGCTGCTTCTGTTTTCTGTCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428824 202428825 202428825 upstr_intron -30 -0.5471698 CGTAATTGCTGCTTCTGTTTTCTGTCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 658 714 0.8941858 0.9974491 0.9458174 0.9930063 0.995609 0.9394464 0.907552 NA NA -0.04526061 0.08989714 0.9943077 0.9234992 NA 0.02231827 NA FALSE NA 0 -2.609 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/4 1 NA TAT A,G 2.471e-05 1:202428825 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 non_coding_transcript_exon_variant 1.438604 0.0979 0.00965 0.106106 0.5996708 0.182158 0.1244546 FALSE 1.29325e-05 ENSE00002428599_003 ENSE00002428599 003 1 202397930 202398099 + 53 75 42 G A 202398004 4625 75 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGACTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428875 202428876 202428876 exon 22 0.2933333 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGACTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 447 1483 0.9998157 0.9989149 0.9993653 0.9930063 0.995609 0.9394464 0.907552 NA NA 0.06036936 0.09136287 0.9943077 0.9234992 NA 0.07586612 NA FALSE NA 1 7.625 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/4 rs199816573 1 NA GGC G,A 3.295e-05 1:202428876 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 missense_variant 6.298764 0.99158 0.98288 0.6512 0.9991224 0 0.1244546 FALSE 2.51168e-05 ENSE00002428599_004 ENSE00002428599 004 1 202397930 202398099 + 53 75 42 G A 202398014 4626 85 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGATCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428885 202428886 202428886 exon 32 0.4266667 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGATCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 2602 115 0.9885729 1 0.9942865 0.9930063 0.995609 0.9394464 0.907552 NA NA 0.04912657 0.09244801 0.9943077 0.9234992 NA 0.07078729 NA FALSE NA 1 6.016 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/4 1 NA GGT G,A 8.236e-06 1:202428886 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 missense_variant 1.376774 0.98913 0.93523 0.6512 0.2567695 0 0.1244546 FALSE NA ENSE00002428599_005 ENSE00002428599 005 1 202397930 202398099 + 53 75 42 C T 202398018 4627 89 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTTGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428889 202428890 202428890 exon 36 0.48 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTTGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 646 319 0.9937079 0.9506402 0.972174 0.9930063 0.995609 0.9394464 0.907552 NA NA 0.05426154 0.04308818 0.9943077 0.9234992 NA 0.04867486 NA FALSE NA 0.053 -0.728 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/4 rs200530971 1 NA T:0 T:0.0002 TCG C,T 8.236e-05 1:202428890 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 synonymous_variant 1.997361 0.30656 0.02356 0.6512 0.6823029 0 0.1244546 FALSE 6.66578e-05 ENSE00002428599_006 ENSE00002428599 006 1 202397930 202398099 + 53 75 42 G A 202398019 4628 90 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCATGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428890 202428891 202428891 exon 37 0.4933333 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCATGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 1764 556 0.9897239 0.9550999 0.9724119 0.9930063 0.995609 0.9394464 0.907552 NA NA 0.0502775 0.04754794 0.9943077 0.9234992 NA 0.04891272 NA FALSE NA 0.999 2.72 rs148672635 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/4 rs148672635 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGT G,A 4.118e-05 1:202428891 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 missense_variant 6.247764 0.9845 0.89682 0.475973 0.9973228 0 0.1244546 FALSE 2.49696e-05 ENSE00002428599_007 ENSE00002428599 007 1 202397930 202398099 + 53 75 42 T C 202398020 4629 91 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGCGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428891 202428892 202428892 exon -38 0.5066667 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGCGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 1285 1182 0.9998807 0.9964423 0.9981615 0.9930063 0.995609 0.9394464 0.907552 NA NA 0.06043436 0.08889034 0.9943077 0.9234992 NA 0.07466235 NA FALSE NA 1 4.974 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/4 1 NA GTG T,C 8.236e-06 1:202428892 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 missense_variant 2.722191 0.99336 0.95656 0.475973 0.9936655 0 0.1244546 FALSE NA ENSE00002428599_008 ENSE00002428599 008 1 202397930 202398099 + 53 75 42 G C 202398022 4630 93 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGCAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428893 202428894 202428894 exon -36 0.5333333 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGCAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 1188 2107 0.9991656 0.9976799 0.9984228 0.9930063 0.995609 0.9394464 0.907552 NA NA 0.05971928 0.09012794 0.9943077 0.9234992 NA 0.07492361 NA FALSE NA 1 5.721 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/4 rs368469909 1 NA C:0 C:0.0002 GGA G,C 1.647e-05 1:202428894 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 missense_variant 2.658702 0.98954 0.98023 0.475973 0.9932978 0 0.1244546 FALSE 1.2503e-05 ENSE00002428599_010 ENSE00002428599 010 1 202397930 202398099 + 53 75 42 G A 202398058 4632 129 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGATGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428929 202428930 202428930 downstr_intron 1 1.02439 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGATGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant 51 91 0 0.04354511 0.02177256 1283 425 0.0521973 0.002383748 0.02729052 0.9930063 0.995609 0.9394464 0.907552 -0.9930063 -0.9520639 -0.8872491 -0.9051682 0.9943077 0.9234992 -0.9725351 -0.8962087 0.07632646 TRUE TRUE 1 9.621 . splice_donor_variant&non_coding_transcript_variant HIGH PPP1R12B HGNC 7619 ENST00000488330 1/3 1 NA GGT G,A 8.236e-06 1:202428930 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 splice_donor_variant 5.453872 0.99521 0.99265 0.106106 0.9955292 0.992821 0.1244546 FALSE NA ENSE00002428599_011 ENSE00002428599 011 1 202397930 202398099 + 53 75 42 T C 202398071 4633 142 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATCGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428942 202428943 202428943 downstr_intron 14 1.341463 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATCGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 3491 2204 0.9987088 0.9969565 0.9978326 0.9930063 0.995609 0.9394464 0.907552 NA NA 0.05926244 0.0894045 0.9943077 0.9234992 NA 0.07433347 NA FALSE NA 0 -0.042 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/3 rs375519870 1 NA C:0.0005 C:0 TTG T,C 1.647e-05 1:202428943 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 intron_variant 0.424917 0.23738 0.07198 0.088506 0.7433129 0.0934099 0.1244546 FALSE 8.85983e-06 ENSE00002428599_012 ENSE00002428599 012 1 202397930 202398099 + 53 75 42 T C 202398077 4634 148 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCCTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 202428948 202428949 202428949 downstr_intron 20 1.487805 CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCCTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT mutant NA NA NA NA NA 1019 1226 0.8303013 0.999871 0.9150862 0.9930063 0.995609 0.9394464 0.907552 NA NA -0.109145 0.09231899 0.9943077 0.9234992 NA -0.008413015 NA FALSE NA 0.069 0.726 . intron_variant&non_coding_transcript_variant MODIFIER PPP1R12B HGNC 7619 ENST00000488330 1/3 1 NA CTT T,C 2.471e-05 1:202428949 PPP1R12B HGNC Symbol protein_coding 244007 ENSG00000077157 ENSE00003475535 intron_variant 0.056032 0.2773 0.03552 0.088506 0.5980779 0.074632 0.1244546 FALSE 1.79997e-05 ENSE00002428599_BRK ENSE00002428599 BRK 1 202397930 202398099 + 53 75 42 A,G; T,T NA NA NA CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCTTGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGCCGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT 202428801 202428971 NA NA NA NA NA NA CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCTTGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGCCGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT CGTAATTGCTGCTTCTGTTTTCTATCAGTCATGGTGCTCCTTTTCTCTGCCAGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGGTGAGTTTCTGATTGGTGCTTTCAAAAGTTTTCTAATAGTTT control NA NA NA NA NA 2826 1713 0.0009566581 0.007379471 0.004168065 0.9930063 0.995609 0.9394464 0.907552 NA NA -0.9384897 -0.9001725 0.9943077 0.9234992 NA -0.9193311 NA TRUE NA NA NA NA NA NA PPP1R12B NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA PPP1R12B NA NA NA ENSG00000077157 ENSE00003475535 NA NA NA NA NA NA NA 0.1244546 FALSE NA ENSE00002428804_000 ENSE00002428804 000 3 170736287 170736456 - 33 93 44 NA NA NA NA NA AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 NA NA NA NA NA NA AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC natural 22 10 0.999615 0.9951282 0.9973716 2377 1078 0.9021114 0.8737172 0.8879143 0.999615 0.9951282 0.9021114 0.8737172 0 0 0 0 0.9973716 0.8879143 0 0 0 FALSE FALSE NA NA NA NA NA SLC2A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC2A2 NA NA NA ENSG00000163581 ENSE00003689114 NA NA NA NA NA NA NA 7.531674e-05 FALSE NA ENSE00002428804_002 ENSE00002428804 002 3 170736287 170736456 - 33 93 44 A G 170736305 3571 152 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGCAGAAGTTCTCTTTTTGGC 171018497 171018667 171018515 171018516 171018516 downstr_intron 15 1.46875 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGCAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 175 640 0.9944625 0.982297 0.9883798 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.0923511 0.1085798 0.9973716 0.8879143 NA 0.1004655 NA FALSE NA 0 -0.284 . intron_variant&NMD_transcript_variant MODIFIER SLC2A2 HGNC 11006 ENST00000469787 2/9 1 NA TAC A,G 8.236e-06 3:171018516 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 intron_variant 0.077789 0.33545 0.13349 0.055872 0.6996227 0.272488 7.531674e-05 FALSE 8.13365e-06 ENSE00002428804_003 ENSE00002428804 003 3 170736287 170736456 - 33 93 44 C A 170736306 3572 151 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATTTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018516 171018517 171018517 downstr_intron 14 1.4375 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATTTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 1757 266 1 0.9985563 0.9992782 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09788858 0.1248391 0.9973716 0.8879143 NA 0.1113639 NA FALSE NA 0 -0.951 . intron_variant&NMD_transcript_variant MODIFIER SLC2A2 HGNC 11006 ENST00000469787 2/9 1 NA ACA C,A 8.236e-06 3:171018517 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 intron_variant 0.37919 0.26646 0.06617 0.055872 0.5164541 0.211201 7.531674e-05 FALSE 4.06686e-06 ENSE00002428804_004 ENSE00002428804 004 3 170736287 170736456 - 33 93 44 C T 170736320 3573 137 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAAGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018530 171018531 171018531 exon -1 1 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAAGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 1523 645 0.01319571 0.01887563 0.01603567 0.999615 0.9951282 0.9021114 0.8737172 NA NA -0.8889157 -0.8548416 0.9973716 0.8879143 NA -0.8718786 NA TRUE NA 1 6.107 . splice_region_variant&synonymous_variant&NMD_transcript_variant LOW SLC2A2 HGNC 11006 ENST00000469787 2/10 1 NA CCT C,T 8.236e-06 3:171018531 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 splice_region_variant 1.853987 0.9824 0.92983 0.55562 0.9956535 0 7.531674e-05 FALSE 8.13246e-06 ENSE00002428804_005 ENSE00002428804 005 3 170736287 170736456 - 33 93 44 G A 170736325 3574 132 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTTAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018535 171018536 171018536 exon -6 0.9462366 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTTAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 32 359 1 0.9570541 0.9785271 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09788858 0.0833369 0.9973716 0.8879143 NA 0.09061274 NA FALSE NA 1 5.78 . stop_gained&NMD_transcript_variant HIGH SLC2A2 HGNC 11006 ENST00000469787 2/10 1 NA TGA G,A 8.236e-06 3:171018536 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 stop_gained 10.24424 0.97522 0.91027 0.55562 0.997705 0 7.531674e-05 FALSE 4.0661e-06 ENSE00002428804_007 ENSE00002428804 007 3 170736287 170736456 - 33 93 44 C T 170736331 3576 126 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATACACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018541 171018542 171018542 exon -12 0.8817204 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATACACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 574 607 0.9818494 0.9933198 0.9875846 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.07973802 0.1196026 0.9973716 0.8879143 NA 0.09967031 NA FALSE NA 1 6.107 rs143528640 missense_variant&NMD_transcript_variant MODERATE SLC2A2 HGNC 11006 ENST00000469787 2/10 rs143528640 1 deleterious_low_confidence(0) possibly_damaging(0.682) NA T:0.0002 T:0 GCA C,T 1.647e-05 3:171018542 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 missense_variant 6.674191 0.98242 0.92982 0.55562 0.7999377 0 7.531674e-05 FALSE 1.62647e-05 ENSE00002428804_008 ENSE00002428804 008 3 170736287 170736456 - 33 93 44 T C 170736333 3577 124 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAGTGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018543 171018544 171018544 exon -14 0.8602151 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAGTGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 588 667 0.9964581 0.998328 0.997393 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09434664 0.1246108 0.9973716 0.8879143 NA 0.1094787 NA FALSE NA 1 6.277 . missense_variant&NMD_transcript_variant MODERATE SLC2A2 HGNC 11006 ENST00000469787 2/10 1 deleterious_low_confidence(0) possibly_damaging(0.486) NA ATT T,C 8.236e-06 3:171018544 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 missense_variant 3.937329 0.97911 0.92571 0.55562 0.9532234 0 7.531674e-05 FALSE 1.21983e-05 ENSE00002428804_009 ENSE00002428804 009 3 170736287 170736456 - 33 93 44 A G 170736341 3578 116 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGCGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018551 171018552 171018552 exon -22 0.7741935 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGCGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 295 379 0.9931769 0.9969295 0.9950532 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09106544 0.1232123 0.9973716 0.8879143 NA 0.1071389 NA FALSE NA 0.053 -0.951 . synonymous_variant&NMD_transcript_variant LOW SLC2A2 HGNC 11006 ENST00000469787 2/10 1 NA CAC A,G 8.236e-06 3:171018552 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 synonymous_variant 0.126007 0.89656 0.17228 0.55562 0.7683457 0 7.531674e-05 FALSE NA ENSE00002428804_010 ENSE00002428804 010 3 170736287 170736456 - 33 93 44 A G 170736344 3579 113 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATCGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018554 171018555 171018555 exon -25 0.7419355 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATCGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 720 199 0.994874 1 0.997437 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09276258 0.1262828 0.9973716 0.8879143 NA 0.1095227 NA FALSE NA 0.997 0.453 . synonymous_variant&NMD_transcript_variant LOW SLC2A2 HGNC 11006 ENST00000469787 2/10 1 NA CAA A,G 8.236e-06 3:171018555 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 synonymous_variant 0.866362 0.94541 0.60208 0.55562 0.835783 0 7.531674e-05 FALSE 4.06626e-06 ENSE00002428804_011 ENSE00002428804 011 3 170736287 170736456 - 33 93 44 G T 170736365 3580 92 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCATTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018575 171018576 171018576 exon -46 0.516129 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCATTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 36 738 1 0.9974197 0.9987098 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09788858 0.1237024 0.9973716 0.8879143 NA 0.1107955 NA FALSE NA 1 2.246 . synonymous_variant&NMD_transcript_variant LOW SLC2A2 HGNC 11006 ENST00000469787 2/10 1 NA AGG G,T 8.236e-06 3:171018576 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 synonymous_variant 0.582835 0.95922 0.82464 0.55562 0.7585433 0 7.531674e-05 FALSE 4.06699e-06 ENSE00002428804_013 ENSE00002428804 013 3 170736287 170736456 - 33 93 44 A G 170736384 3582 73 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCACCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018594 171018595 171018595 exon 29 0.311828 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCACCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 39 2143 1 0.9930887 0.9965444 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09788858 0.1193715 0.9973716 0.8879143 NA 0.10863 NA FALSE NA 1 7.287 . missense_variant&NMD_transcript_variant MODERATE SLC2A2 HGNC 11006 ENST00000469787 2/10 1 tolerated_low_confidence(0.11) benign(0.291) NA GAT A,G 8.236e-06 3:171018595 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 missense_variant 0.601982 0.97953 0.94752 0.55562 0.990898 0 7.531674e-05 FALSE 1.22035e-05 ENSE00002428804_014 ENSE00002428804 014 3 170736287 170736456 - 33 93 44 A G 170736389 3583 68 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACCGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018599 171018600 171018600 exon 24 0.2580645 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACCGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 788 619 0.992967 1 0.9964835 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.0908556 0.1262828 0.9973716 0.8879143 NA 0.1085692 NA FALSE NA 0.838 0.136 . synonymous_variant&NMD_transcript_variant LOW SLC2A2 HGNC 11006 ENST00000469787 2/10 rs375465762 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0 G:0.0001 CAG A,G 2.471e-05 3:171018600 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 synonymous_variant -1.251777 0.92264 0.56989 0.55562 0.5910357 0 7.531674e-05 FALSE 1.22062e-05 ENSE00002428804_015 ENSE00002428804 015 3 170736287 170736456 - 33 93 44 G T 170736401 3584 56 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACACTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018611 171018612 171018612 exon 12 0.1290323 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACACTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 2546 559 0.9931194 0.9983322 0.9957258 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09100803 0.124615 0.9973716 0.8879143 NA 0.1078115 NA FALSE NA 0.417 -0.62 . synonymous_variant&NMD_transcript_variant LOW SLC2A2 HGNC 11006 ENST00000469787 2/10 1 NA GGG G,T 8.236e-06 3:171018612 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 synonymous_variant -0.567527 0.90695 0.31489 0.55562 0.5000097 0 7.531674e-05 FALSE 4.07123e-06 ENSE00002428804_016 ENSE00002428804 016 3 170736287 170736456 - 33 93 44 C T 170736412 3585 45 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGATCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018622 171018623 171018623 exon 1 0.01075269 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGATCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 1672 333 0.9656568 0.9327252 0.949191 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.06354533 0.05900804 0.9973716 0.8879143 NA 0.06127669 NA FALSE NA 0.233 -0.818 . missense_variant&splice_region_variant&NMD_transcript_variant MODERATE SLC2A2 HGNC 11006 ENST00000469787 2/10 1 tolerated_low_confidence(0.53) benign(0.198) NA ACC C,T 1.647e-05 3:171018623 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 missense_variant 0.44053 0.45783 0.06199 0.55562 0.7697636 0 7.531674e-05 FALSE 1.22219e-05 ENSE00002428804_017 ENSE00002428804 017 3 170736287 170736456 - 33 93 44 C T 170736423 3586 34 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCACCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018633 171018634 171018634 upstr_intron -11 -0.2272727 AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCACCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 230 508 1 0.9857259 0.992863 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09788858 0.1120087 0.9973716 0.8879143 NA 0.1049487 NA FALSE NA 0.001 -0.325 . intron_variant&NMD_transcript_variant MODIFIER SLC2A2 HGNC 11006 ENST00000469787 1/9 1 NA GCG C,T 3.295e-05 3:171018634 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 intron_variant 0.0496 0.25965 0.01516 0.088285 0.4629267 0.364548 7.531674e-05 FALSE 2.4481e-05 ENSE00002428804_021 ENSE00002428804 021 3 170736287 170736456 - 33 93 44 A G 170736442 3590 15 AAAATTGCCTGGTGCTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018652 171018653 171018653 upstr_intron -30 -0.6590909 AAAATTGCCTGGTGCTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 869 374 0.9984091 0.8411521 0.9197806 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09629769 -0.0325651 0.9973716 0.8879143 NA 0.03186629 NA FALSE NA 0.003 0.733 . intron_variant&NMD_transcript_variant MODIFIER SLC2A2 HGNC 11006 ENST00000469787 1/9 1 NA AAC A,G 8.237e-06 3:171018653 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 intron_variant 0.061363 0.37115 0.0771 0.088285 0.7319379 0.274621 7.531674e-05 FALSE 4.09319e-06 ENSE00002428804_022 ENSE00002428804 022 3 170736287 170736456 - 33 93 44 C T 170736445 3591 12 AAAATTGCCTGATGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018655 171018656 171018656 upstr_intron -33 -0.7272727 AAAATTGCCTGATGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 180 356 1 1 1 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09788858 0.1262828 0.9973716 0.8879143 NA 0.1120857 NA FALSE NA 0 -0.901 . intron_variant&NMD_transcript_variant MODIFIER SLC2A2 HGNC 11006 ENST00000469787 1/9 1 NA ACC C,T 0.0001483 3:171018656 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 intron_variant 0.61469 0.34907 0.05826 0.088285 0.6594563 0.289119 7.531674e-05 FALSE 0.000110619 ENSE00002428804_023 ENSE00002428804 023 3 170736287 170736456 - 33 93 44 C A 170736446 3592 11 AAAATTGCCTTGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 171018656 171018657 171018657 upstr_intron -34 -0.75 AAAATTGCCTTGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC mutant NA NA NA NA NA 390 2012 0.9947715 0.9983101 0.9965408 0.999615 0.9951282 0.9021114 0.8737172 NA NA 0.09266007 0.1245929 0.9973716 0.8879143 NA 0.1086265 NA FALSE NA 0 -0.625 . intron_variant&NMD_transcript_variant MODIFIER SLC2A2 HGNC 11006 ENST00000469787 1/9 rs373805655 1 NA A:0.0005 A:0 CCA C,A 1.647e-05 3:171018657 SLC2A2 HGNC Symbol protein_coding 30402 ENSG00000163581 ENSE00003689114 intron_variant 0.606707 0.42212 0.1428 0.088285 0.7448854 0.273309 7.531674e-05 FALSE 1.22983e-05 ENSE00002428804_BRK ENSE00002428804 BRK 3 170736287 170736456 - 33 93 44 A,G; T,T NA NA NA AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCTTGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGCCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC 171018497 171018667 NA NA NA NA NA NA AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCTTGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGCCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC AAAATTGCCTGGTGTTTCCCTGCCCTGTGTCTCGCCCCCTGCAGGTCACTGGGACCCTGGTTTTCACTGTCATCACTGCTGTGCTGGGTTCCTTCCAGTTTGGATATGACATTGGTGTGATCAATGCACCTCAACAGGCAAGTGAAATATGTAGAAGTTCTCTTTTTGGC control 10 12 0 0 0 974 280 0.01524389 0 0.007621944 0.999615 0.9951282 0.9021114 0.8737172 -0.999615 -0.9951282 -0.8868675 -0.8737172 0.9973716 0.8879143 -0.9973716 -0.8802924 0.1170793 TRUE TRUE NA NA NA NA NA SLC2A2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA SLC2A2 NA NA NA ENSG00000163581 ENSE00003689114 NA NA NA NA NA NA NA 7.531674e-05 FALSE NA ENSE00002428823_000 ENSE00002428823 000 3 127838135 127838304 - 36 87 47 NA NA NA NA NA AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 NA NA NA NA NA NA AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG natural 23 14 0.9963143 1 0.9981572 2491 1530 0.9934575 0.9907746 0.992116 0.9963143 1 0.9934575 0.9907746 0 0 0 0 0.9981572 0.992116 0 0 0 FALSE FALSE NA NA NA NA NA RUVBL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RUVBL1 NA NA NA ENSG00000175792 ENSE00003492006 NA NA NA NA NA NA NA 0.9988977 TRUE NA ENSE00002428823_001 ENSE00002428823 001 3 127838135 127838304 - 36 87 47 T A 127838146 2648 159 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTATATCTACCCAGG 128119291 128119461 128119302 128119303 128119303 downstr_intron 25 1.714286 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTATATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 1209 1089 0.8311295 0.9955529 0.9133412 0.9963143 1 0.9934575 0.9907746 NA NA -0.162328 0.004778321 0.9981572 0.992116 NA -0.07877484 NA FALSE NA 0.584 0.098 . intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 2/9 1 NA TTT T,A 8.237e-06 3:128119303 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 1.796316 0.23483 0.04095 0.322412 0.76891 0.177291 0.9988977 TRUE 4.10075e-06 ENSE00002428823_002 ENSE00002428823 002 3 127838135 127838304 - 36 87 47 T C 127838154 2649 151 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCGTTTTTTAAATCTACCCAGG 128119291 128119461 128119310 128119311 128119311 downstr_intron 17 1.485714 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCGTTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 23 1126 1 1 1 0.9963143 1 0.9934575 0.9907746 NA NA 0.006542489 0.009225412 0.9981572 0.992116 NA 0.00788395 NA FALSE NA 0 -0.568 . intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 2/9 1 NA ATG T,C 8.236e-06 3:128119311 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 1.096982 0.87385 0.26088 0.322412 0.7908682 0.371872 0.9988977 TRUE 4.10061e-06 ENSE00002428823_003 ENSE00002428823 003 3 127838135 127838304 - 36 87 47 G A 127838159 2650 146 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTTTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119315 128119316 128119316 downstr_intron 12 1.342857 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTTTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 318 1433 1 0.9997792 0.9998896 0.9963143 1 0.9934575 0.9907746 NA NA 0.006542489 0.009004619 0.9981572 0.992116 NA 0.007773554 NA FALSE NA 0 -0.369 . intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 2/9 1 NA AGA G,A 8.236e-06 3:128119316 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 0.832748 0.72868 0.14729 0.322412 0.5112819 0.29491 0.9988977 TRUE 4.09333e-06 ENSE00002428823_005 ENSE00002428823 005 3 127838135 127838304 - 36 87 47 T C 127838220 2652 85 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAGAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119376 128119377 128119377 exon 38 0.4367816 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAGAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 622 822 0.9955353 0.9991623 0.9973488 0.9963143 1 0.9934575 0.9907746 NA NA 0.002077753 0.008387673 0.9981572 0.992116 NA 0.005232713 NA FALSE NA 1 7.818 . 5_prime_UTR_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 2/10 rs373626804 1 NA C:0 C:0.0001 TTT T,C 8.236e-06 3:128119377 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 missense_variant 2.333568 0.96956 0.97066 0.706298 0.9973483 0 0.9988977 TRUE 4.0619e-06 ENSE00002428823_006 ENSE00002428823 006 3 127838135 127838304 - 36 87 47 G A 127838231 2653 74 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATTAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119387 128119388 128119388 exon 27 0.3103448 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATTAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 935 1309 1 0.9994122 0.9997061 0.9963143 1 0.9934575 0.9907746 NA NA 0.006542489 0.008637614 0.9981572 0.992116 NA 0.007590051 NA FALSE NA 1 6.252 . 5_prime_UTR_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 2/10 1 NA TGA G,A 8.236e-06 3:128119388 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 synonymous_variant 1.323875 0.95506 0.93424 0.706298 0.7937415 0 0.9988977 TRUE 4.06256e-06 ENSE00002428823_007 ENSE00002428823 007 3 127838135 127838304 - 36 87 47 C T 127838248 2654 57 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCATCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119404 128119405 128119405 exon 10 0.1149425 AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCATCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 269 151 0.9990784 0.9979579 0.9985182 0.9963143 1 0.9934575 0.9907746 NA NA 0.005620935 0.007183322 0.9981572 0.992116 NA 0.006402129 NA FALSE NA 1 3.851 . 5_prime_UTR_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 2/10 rs377058632 1 NA T:0 T:0.0001 ACG C,T 0.00014 3:128119405 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 missense_variant 2.462779 0.95806 0.79593 0.706298 0.5289878 0 0.9988977 TRUE 0.000138263 ENSE00002428823_009 ENSE00002428823 009 3 127838135 127838304 - 36 87 47 A G 127838269 2656 36 AAACATTTTAATATTGATTTATTATTTCTTTCCATCGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119425 128119426 128119426 upstr_intron -12 -0.2340426 AAACATTTTAATATTGATTTATTATTTCTTTCCATCGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 806 2164 0.999283 0.9973239 0.9983035 0.9963143 1 0.9934575 0.9907746 NA NA 0.005825464 0.006549346 0.9981572 0.992116 NA 0.006187405 NA FALSE NA 0.996 1.831 rs144593743 intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 1/9 rs144593743 1 G:0.0012 G:0 G:0 NA G:0 G:0.006 G:0 G:0 G:0.0003 CAA A,G 0.001672 3:128119426 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 1.610233 0.86686 0.56318 0.062308 0.8147025 0.38274 0.9988977 TRUE 0.00185687 ENSE00002428823_010 ENSE00002428823 010 3 127838135 127838304 - 36 87 47 T C 127838271 2657 34 AAACATTTTAATATTGATTTATTATTTCTTTCCGTTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119427 128119428 128119428 upstr_intron -14 -0.2765957 AAACATTTTAATATTGATTTATTATTTCTTTCCGTTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 1992 859 0.9983086 0.99663 0.9974693 0.9963143 1 0.9934575 0.9907746 NA NA 0.004851076 0.005855362 0.9981572 0.992116 NA 0.005353219 NA FALSE NA 0.947 -0.045 . intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 1/9 rs374575318 1 NA C:0 C:0.0001 ATG T,C 2.471e-05 3:128119428 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 1.489942 0.62929 0.59938 0.062308 0.7842233 0.297371 0.9988977 TRUE 2.07636e-05 ENSE00002428823_012 ENSE00002428823 012 3 127838135 127838304 - 36 87 47 G A 127838273 2659 32 AAACATTTTAATATTGATTTATTATTTCTTTTCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119429 128119430 128119430 upstr_intron -16 -0.3191489 AAACATTTTAATATTGATTTATTATTTCTTTTCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 2862 1621 0.9979204 0.9997378 0.9988291 0.9963143 1 0.9934575 0.9907746 NA NA 0.004462894 0.008963202 0.9981572 0.992116 NA 0.006713048 NA FALSE NA 0.999 2.208 NA NA NA RUVBL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:128119430 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 1.552044 0.66403 0.47742 0.062308 0.6735948 0.373928 0.9988977 TRUE 4.1624e-06 ENSE00002428823_013 ENSE00002428823 013 3 127838135 127838304 - 36 87 47 A G 127838276 2660 29 AAACATTTTAATATTGATTTATTATTTCCTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119432 128119433 128119433 upstr_intron -19 -0.3829787 AAACATTTTAATATTGATTTATTATTTCCTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 1323 276 0.9983489 0.9902311 0.99429 0.9963143 1 0.9934575 0.9907746 NA NA 0.004891356 -0.0005434982 0.9981572 0.992116 NA 0.002173929 NA FALSE NA 1 2.052 . intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 1/9 1 NA AAG A,G 8.236e-06 3:128119433 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 1.698817 0.92608 0.67078 0.062308 0.8719175 0.377706 0.9988977 TRUE NA ENSE00002428823_014 ENSE00002428823 014 3 127838135 127838304 - 36 87 47 A C 127838279 2661 26 AAACATTTTAATATTGATTTATTATGTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119435 128119436 128119436 upstr_intron -22 -0.4468085 AAACATTTTAATATTGATTTATTATGTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 1188 681 0.9944902 0.986643 0.9905666 0.9963143 1 0.9934575 0.9907746 NA NA 0.001032645 -0.004131584 0.9981572 0.992116 NA -0.001549469 NA FALSE NA 0.997 3.833 NA NA NA RUVBL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:128119436 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 1.906492 0.91643 0.8996 0.062308 0.8307577 0.78638 0.9988977 TRUE 8.35401e-06 ENSE00002428823_016 ENSE00002428823 016 3 127838135 127838304 - 36 87 47 A C 127838282 2663 23 AAACATTTTAATATTGATTTATGATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119438 128119439 128119439 upstr_intron -25 -0.5106383 AAACATTTTAATATTGATTTATGATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 1025 962 0.947585 0.9997623 0.9736736 0.9963143 1 0.9934575 0.9907746 NA NA -0.04587252 0.008987698 0.9981572 0.992116 NA -0.01844241 NA FALSE NA 0.216 1.361 rs183505258 intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 1/9 rs183505258 1 C:0.0024 C:0.0076 C:0.0029 NA C:0 C:0 C:0 C:0.0045 C:0 TAA A,C 0.0005189 3:128119439 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 1.2652 0.54769 0.34574 0.062308 0.8088121 0.180065 0.9988977 TRUE 0.000416425 ENSE00002428823_017 ENSE00002428823 017 3 127838135 127838304 - 36 87 47 A G 127838291 2664 14 AAACATTTTAATACTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119447 128119448 128119448 upstr_intron -34 -0.7021277 AAACATTTTAATACTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 700 910 0.9161298 0.9987779 0.9574538 0.9963143 1 0.9934575 0.9907746 NA NA -0.07732772 0.008003315 0.9981572 0.992116 NA -0.0346622 NA FALSE NA 0 -0.909 . intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 1/9 1 NA AAT A,G 8.237e-06 3:128119448 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant -0.452156 0.16586 0.04486 0.062308 0.4434788 0.0657212 0.9988977 TRUE 1.27109e-05 ENSE00002428823_018 ENSE00002428823 018 3 127838135 127838304 - 36 87 47 T G 127838292 2665 13 AAACATTTTAATCTTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 128119448 128119449 128119449 upstr_intron -35 -0.7234043 AAACATTTTAATCTTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG mutant NA NA NA NA NA 545 1460 0.9980259 0.9991615 0.9985937 0.9963143 1 0.9934575 0.9907746 NA NA 0.004568372 0.008386903 0.9981572 0.992116 NA 0.006477638 NA FALSE NA 0.001 0.176 . intron_variant MODIFIER RUVBL1 HGNC 10474 ENST00000464873 1/9 1 NA ATA T,G 8.238e-06 3:128119449 RUVBL1 HGNC Symbol protein_coding 89136 ENSG00000175792 ENSE00003492006 intron_variant 0.089186 0.26026 0.16797 0.062308 0.5769245 0.0657212 0.9988977 TRUE 8.5357e-06 ENSE00002428823_BRK ENSE00002428823 BRK 3 127838135 127838304 - 36 87 47 A,G; T,T NA NA NA AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTTTGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGCCACTCATTTTCTCTCATTTTTTAAATCTACCCAGG 128119291 128119461 NA NA NA NA NA NA AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTTTGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGCCACTCATTTTCTCTCATTTTTTAAATCTACCCAGG AAACATTTTAATATTGATTTATTATTTCTTTCCATTGTGGTGTGTAGGCATGTGGCGTCATAGTAGAATTAATCAAAAGCAAGAAAATGGCTGGAAGAGCTGTCTTGTTGGCAGGACCTCCTGGAACTGGCAAGGTACTCATTTTCTCTCATTTTTTAAATCTACCCAGG control 10 20 0 0 0 789 352 0 0 0 0.9963143 1 0.9934575 0.9907746 -0.9963143 -1 -0.9934575 -0.9907746 0.9981572 0.992116 -0.9981572 -0.992116 0.006041119 TRUE TRUE NA NA NA NA NA RUVBL1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA RUVBL1 NA NA NA ENSG00000175792 ENSE00003492006 NA NA NA NA NA NA NA 0.9988977 TRUE NA ENSE00002428956_000 ENSE00002428956 000 17 30219710 30219879 - 56 48 66 NA NA NA NA NA TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 NA NA NA NA NA NA TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC natural NA NA NA NA NA 1434 869 0.9971532 0.9926094 0.9948813 NA NA 0.9971532 0.9926094 NA NA 0 0 NA 0.9948813 NA 0 NA FALSE NA NA NA NA NA NA UTP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTP6 NA NA NA ENSG00000108651 ENSE00003461579 NA NA NA NA NA NA NA 4.828815e-06 FALSE NA ENSE00002428956_003 ENSE00002428956 003 17 30219710 30219879 - 56 48 66 G A 30219730 1365 150 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACTGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892710 31892711 31892711 downstr_intron 36 1.654545 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACTGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 428 400 0.9999038 0.9895784 0.9947411 NA NA 0.9971532 0.9926094 NA NA 0.002750657 -0.003031015 NA 0.9948813 NA -0.0001401792 NA FALSE NA 0 -0.32 rs78376480 intron_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 5/9 rs78376480 1 A:0.0020 A:0.0061 A:0.0014 NA A:0 A:0.001 A:0 A:0.0073 A:0.0002 CGG G,A 0.0009637 17:31892711 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 intron_variant -0.19092 0.0661 0.012 0.160075 0.256715 0.0475812 4.828815e-06 FALSE 0.000740934 ENSE00002428956_004 ENSE00002428956 004 17 30219710 30219879 - 56 48 66 C T 30219742 1366 138 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTACTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892722 31892723 31892723 downstr_intron 24 1.436364 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTACTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant 19 24 1 1 1 257 281 0.9920766 0.9994368 0.9957567 NA NA 0.9971532 0.9926094 NA NA -0.005076514 0.006827342 NA 0.9948813 NA 0.0008754143 NA FALSE NA 0 -3.173 . intron_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 5/9 1 NA GCA C,T 1.647e-05 17:31892723 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 intron_variant 0.257237 0.15448 0.04737 0.160075 0.7555258 0.0624437 4.828815e-06 FALSE 1.21998e-05 ENSE00002428956_005 ENSE00002428956 005 17 30219710 30219879 - 56 48 66 G C 30219745 1367 135 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTGTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892725 31892726 31892726 downstr_intron 21 1.381818 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTGTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 523 398 0.996242 1 0.998121 NA NA 0.9971532 0.9926094 NA NA -0.0009111898 0.007390579 NA 0.9948813 NA 0.003239694 NA FALSE NA 0.933 1.829 . intron_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 5/9 rs370555787 1 NA C:0 C:0.0001 AGA G,C 1.647e-05 17:31892726 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 intron_variant 0.295543 0.29081 0.69462 0.160075 0.7717344 0.0624437 4.828815e-06 FALSE 1.21971e-05 ENSE00002428956_007 ENSE00002428956 007 17 30219710 30219879 - 56 48 66 T C 30219753 1369 127 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCGTGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892733 31892734 31892734 downstr_intron 13 1.236364 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCGTGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 825 101 0.9919631 0.9887014 0.9903323 NA NA 0.9971532 0.9926094 NA NA -0.00519002 -0.003907976 NA 0.9948813 NA -0.004548998 NA FALSE NA 0 -0.03 . intron_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 5/9 1 NA ATG T,C 2.471e-05 17:31892734 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 intron_variant 0.643931 0.16763 0.0437 0.359288 0.5888991 0.0483315 4.828815e-06 FALSE 1.21938e-05 ENSE00002428956_009 ENSE00002428956 009 17 30219710 30219879 - 56 48 66 A C 30219768 1371 112 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGGGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892748 31892749 31892749 exon -3 0.9583333 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGGGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 592 509 0.9869815 0.9898216 0.9884016 NA NA 0.9971532 0.9926094 NA NA -0.01017163 -0.002787779 NA 0.9948813 NA -0.006479702 NA FALSE NA 1 7.222 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW UTP6 HGNC 18279 ENST00000490218 5/10 rs566763795 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CAC A,C 1.647e-05 17:31892749 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 missense_variant 2.823441 0.99005 0.99043 0.732398 0.9413663 0 4.828815e-06 FALSE 8.12691e-06 ENSE00002428956_010 ENSE00002428956 010 17 30219710 30219879 - 56 48 66 A G 30219787 1372 93 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTACGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892767 31892768 31892768 exon -22 0.5625 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTACGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 347 285 0.9596385 0.9590243 0.9593314 NA NA 0.9971532 0.9926094 NA NA -0.03751464 -0.03358514 NA 0.9948813 NA -0.03554989 NA FALSE NA 0.244 0.29 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 5/10 1 NA CAT A,G 8.236e-06 17:31892768 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 synonymous_variant -0.780804 0.92303 0.29632 0.732398 0.2756853 0 4.828815e-06 FALSE 1.21876e-05 ENSE00002428956_011 ENSE00002428956 011 17 30219710 30219879 - 56 48 66 G A 30219790 1373 90 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCTTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892770 31892771 31892771 exon 24 0.5 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCTTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 959 237 0.9890828 0.9825388 0.9858108 NA NA 0.9971532 0.9926094 NA NA -0.008070386 -0.0100706 NA 0.9948813 NA -0.009070494 NA FALSE NA 0.436 -0.887 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 5/10 1 NA AGG G,A 8.236e-06 17:31892771 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 synonymous_variant 0.873424 0.94546 0.13932 0.732398 0.6101471 0 4.828815e-06 FALSE 4.0627e-06 ENSE00002428956_012 ENSE00002428956 012 17 30219710 30219879 - 56 48 66 A G 30219798 1374 82 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTCGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892778 31892779 31892779 exon 16 0.3333333 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTCGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 176 377 0.9920692 0.9934709 0.99277 NA NA 0.9971532 0.9926094 NA NA -0.005083983 0.0008614788 NA 0.9948813 NA -0.002111252 NA FALSE NA 1 7.262 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 5/10 1 NA CAA A,G 8.236e-06 17:31892779 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 missense_variant 6.159166 0.98969 0.99123 0.732398 0.9947087 0 4.828815e-06 FALSE 4.06246e-06 ENSE00002428956_013 ENSE00002428956 013 17 30219710 30219879 - 56 48 66 G A 30219811 1375 69 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGATGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892791 31892792 31892792 exon 3 0.0625 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGATGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 271 175 1 1 1 NA NA 0.9971532 0.9926094 NA NA 0.002846849 0.007390579 NA 0.9948813 NA 0.005118714 NA FALSE NA 0.98 0.255 rs144023831 splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW UTP6 HGNC 18279 ENST00000490218 5/10 rs144023831 1 NA A:0 A:0.0001 CGT G,A 3.295e-05 17:31892792 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 splice_region_variant 1.226685 0.93314 0.12699 0.732398 0.6921584 0 4.828815e-06 FALSE 2.03161e-05 ENSE00002428956_014 ENSE00002428956 014 17 30219710 30219879 - 56 48 66 G C 30219837 1376 43 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGGTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892817 31892818 31892818 upstr_intron -24 -0.3484848 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGGTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant 80 109 0 0 0 NA NA NA NA NA NA NA 0.9971532 0.9926094 NA NA NA NA NA 0.9948813 NA NA NA NA NA 0.012 1.006 . intron_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 4/9 1 NA AGC G,C 1.647e-05 17:31892818 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 intron_variant -0.024406 0.23091 0.04028 0.106106 0.6418349 0.0969811 4.828815e-06 FALSE 1.22109e-05 ENSE00002428956_015 ENSE00002428956 015 17 30219710 30219879 - 56 48 66 C T 30219838 1377 42 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAACTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 31892818 31892819 31892819 upstr_intron -25 -0.3636364 TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAACTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC mutant NA NA NA NA NA 146 711 0.5232994 0.3323004 0.4277999 NA NA 0.9971532 0.9926094 NA NA -0.4738537 -0.660309 NA 0.9948813 NA -0.5670814 NA TRUE NA 0 -0.476 . intron_variant&non_coding_transcript_variant MODIFIER UTP6 HGNC 18279 ENST00000490218 4/9 rs201022350 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GCT C,T 8.236e-06 17:31892819 UTP6 HGNC Symbol protein_coding 40866 ENSG00000108651 ENSE00003461579 intron_variant 0.232156 0.1521 0.07124 0.106106 0.6619219 0.0969811 4.828815e-06 FALSE NA ENSE00002428956_BRK ENSE00002428956 BRK 17 30219710 30219879 - 56 48 66 A,G; T,T NA NA NA TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCTTGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGCCGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC 31892690 31892860 NA NA NA NA NA NA TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCTTGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGCCGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC TAATGCAAAGGTGTATTATATGTAAAGGTCAAATTTGGGCAGCTTACTACATTGCTTTTCTTGCAGGACGATGTTCAACTTTGGCTCTCCTATGTGGCTTTTTGTAAGAAGTGGGTGAGTAAAGCCATGCATGTCTTGCTTCCTCTGACCGTCTTTTTGTTAATCTGCCC control NA NA NA NA NA 616 171 0.004916667 0.002963938 0.003940303 NA NA 0.9971532 0.9926094 NA NA -0.9922365 -0.9896455 NA 0.9948813 NA -0.990941 NA TRUE NA NA NA NA NA NA UTP6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA UTP6 NA NA NA ENSG00000108651 ENSE00003461579 NA NA NA NA NA NA NA 4.828815e-06 FALSE NA ENSE00002429043_000 ENSE00002429043 000 2 238256402 238256571 - 48 63 59 NA NA NA NA NA ACATACGTTCTCATTCCTCACCTGCAGCCAAGGCCCACGCAAACTTACCCTTCGGCCTCTGATGCCTTTGGGTCCTGTTGTTCCATTTAGCCCAGGTTCACCTGGGTTACCCTGGGAAGAAAGCCGAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 NA NA NA NA NA NA CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT natural NA NA NA NA NA 588 1061 0.8040285 0.99452 0.8992743 NA NA 0.8040285 0.99452 NA NA 0 0 NA 0.8992743 NA 0 NA FALSE NA NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003467345 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002429043_001 ENSE00002429043 001 2 238256402 238256571 - 48 63 59 C T 238256413 5563 159 ACATACGTTCTTATTCCTCACCTGCAGCCAAGGCCCACGCAAACTTACCCTTCGGCCTCTGATGCCTTTGGGTCCTGTTGTTCCATTTAGCCCAGGTTCACCTGGGTTACCCTGGGAAGAAAGCCGAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 237347769 237347770 237347770 downstr_intron 37 1.787234 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATAAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 349 46 1 0.8712391 0.9356196 NA NA 0.8040285 0.99452 NA NA 0.1959715 -0.1232809 NA 0.8992743 NA 0.0363453 NA FALSE NA 0 0.352 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 30/42 1 NA TCA C,T 8.239e-06 2:237347770 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 intron_variant 0.195285 0.17832 0.03358 0.053691 0.623165 0.0732942 7.793308e-11 FALSE NA ENSE00002429043_005 ENSE00002429043 005 2 238256402 238256571 - 48 63 59 A T 238256443 5567 129 ACATACGTTCTCATTCCTCACCTGCAGCCAAGGCCCACGCATACTTACCCTTCGGCCTCTGATGCCTTTGGGTCCTGTTGTTCCATTTAGCCCAGGTTCACCTGGGTTACCCTGGGAAGAAAGCCGAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 237347799 237347800 237347800 downstr_intron 7 1.148936 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTATGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 585 147 1 0.9926893 0.9963446 NA NA 0.8040285 0.99452 NA NA 0.1959715 -0.001830741 NA 0.8992743 NA 0.09707037 NA FALSE NA 0.008 0.181 . splice_region_variant&intron_variant LOW COL6A3 HGNC 2213 ENST00000346358 30/42 1 NA AAA A,T 8.237e-06 2:237347800 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 splice_region_variant 1.149142 0.17518 0.0251 0.078448 0.8241171 0.495647 7.793308e-11 FALSE 8.41446e-06 ENSE00002429043_007 ENSE00002429043 007 2 238256402 238256571 - 48 63 59 T A 238256452 5569 120 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGATGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT 237347758 237347928 237347808 237347809 237347809 exon -3 0.968254 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGATGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 1693 16 0.7976373 0.8155504 0.8065939 NA NA 0.8040285 0.99452 NA NA -0.006391175 -0.1789696 NA 0.8992743 NA -0.09268036 NA FALSE NA 1 3.309 . missense_variant&splice_region_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 30/43 1 unknown(0) NA CTT T,A 8.237e-06 2:237347809 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 missense_variant 3.882685 0.96933 0.96909 0.615465 0.9974912 0 7.793308e-11 FALSE NA ENSE00002429043_010 ENSE00002429043 010 2 238256402 238256571 - 48 63 59 G A 238256472 5572 100 ACATACGTTCTCATTCCTCACCTGCAGCCAAGGCCCACGCAAACTTACCCTTCGGCCTCTGATGCCTTTGAGTCCTGTTGTTCCATTTAGCCCAGGTTCACCTGGGTTACCCTGGGAAGAAAGCCGAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 237347828 237347829 237347829 exon -23 0.6507937 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACTCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 138 68 0.8585499 1 0.929275 NA NA 0.8040285 0.99452 NA NA 0.05452141 0.005480004 NA 0.8992743 NA 0.03000071 NA FALSE NA 1 6.54 NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:237347829 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 missense_variant 3.275914 0.98638 0.9864 0.615465 0.997093 0 7.793308e-11 FALSE 0.00218219 ENSE00002429043_016 ENSE00002429043 016 2 238256402 238256571 - 48 63 59 G A 238256497 5578 75 ACATACGTTCTCATTCCTCACCTGCAGCCAAGGCCCACGCAAACTTACCCTTCGGCCTCTGATGCCTTTGGGTCCTGTTGTTCCATTTAGCCCAGATTCACCTGGGTTACCCTGGGAAGAAAGCCGAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 237347853 237347854 237347854 exon 16 0.2539683 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAATCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 146 265 0.987839 0.9998563 0.9938476 NA NA 0.8040285 0.99452 NA NA 0.1838105 0.005336264 NA 0.8992743 NA 0.09457338 NA FALSE NA 0.37 2.776 . missense_variant MODERATE COL6A3 HGNC 2213 ENST00000346358 30/43 rs371637449 1 unknown(0) NA A:0 A:0.0001 GGT G,A 8.238e-06 2:237347854 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 missense_variant 0.949748 0.39866 0.72321 0.615465 0.9449259 0 7.793308e-11 FALSE 8.36575e-06 ENSE00002429043_017 ENSE00002429043 017 2 238256402 238256571 - 48 63 59 T C 238256498 5579 74 ACATACGTTCTCATTCCTCACCTGCAGCCAAGGCCCACGCAAACTTACCCTTCGGCCTCTGATGCCTTTGGGTCCTGTTGTTCCATTTAGCCCAGGCTCACCTGGGTTACCCTGGGAAGAAAGCCGAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 237347854 237347855 237347855 exon 15 0.2380952 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAGCCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 419 84 0.9877112 0.9789732 0.9833422 NA NA 0.8040285 0.99452 NA NA 0.1836826 -0.01554677 NA 0.8992743 NA 0.08406793 NA FALSE NA 0.002 -0.762 rs35993209 synonymous_variant LOW COL6A3 HGNC 2213 ENST00000346358 30/43 rs35993209 1 C:0.0204 C:0.0749 C:0.0043 NA C:0 C:0 C:0 C:0.0524 C:0.0009 GTT C,C 0.005849 2:237347855 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 synonymous_variant -0.83572 0.23193 0.00644 0.615465 0.3245357 0 7.793308e-11 FALSE 0.00482132 ENSE00002429043_020 ENSE00002429043 020 2 238256402 238256571 - 48 63 59 A C 238256522 5582 50 ACATACGTTCTCATTCCTCACCTGCAGCCAAGGCCCACGCAAACTTACCCTTCGGCCTCTGATGCCTTTGGGTCCTGTTGTTCCATTTAGCCCAGGTTCACCTGGGTTACCCTGGGAAGACAGCCGAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 237347878 237347879 237347879 upstr_intron -10 -0.1525424 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTGTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 22 1584 0.8 0.9879599 0.8939799 NA NA 0.8040285 0.99452 NA NA -0.004028516 -0.006560115 NA 0.8992743 NA -0.005294315 NA FALSE NA 0.217 0.441 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 29/42 1 NA AAA A,C 8.239e-06 2:237347879 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 intron_variant -0.246646 0.25114 0.20743 0.077785 0.5261558 0.232148 7.793308e-11 FALSE NA ENSE00002429043_021 ENSE00002429043 021 2 238256402 238256571 - 48 63 59 C A 238256526 5583 46 ACATACGTTCTCATTCCTCACCTGCAGCCAAGGCCCACGCAAACTTACCCTTCGGCCTCTGATGCCTTTGGGTCCTGTTGTTCCATTTAGCCCAGGTTCACCTGGGTTACCCTGGGAAGAAAGCAGAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 237347882 237347883 237347883 upstr_intron -14 -0.220339 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCTGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 184 136 1 0.97724 0.98862 NA NA 0.8040285 0.99452 NA NA 0.1959715 -0.01728003 NA 0.8992743 NA 0.08934573 NA FALSE NA 0.002 1.482 . intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 29/42 1 NA CCG C,A 1.648e-05 2:237347883 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 intron_variant -0.095396 0.22769 0.14347 0.077785 0.5153373 0.211163 7.793308e-11 FALSE NA ENSE00002429043_022 ENSE00002429043 022 2 238256402 238256571 - 48 63 59 G A 238256527 5584 45 ACATACGTTCTCATTCCTCACCTGCAGCCAAGGCCCACGCAAACTTACCCTTCGGCCTCTGATGCCTTTGGGTCCTGTTGTTCCATTTAGCCCAGGTTCACCTGGGTTACCCTGGGAAGAAAGCCAAGAAGTGGCACAGTAAGCTTTGGAACAGAAGATCTCACTGAGGG 237347758 237347928 237347883 237347884 237347884 upstr_intron -15 -0.2372881 CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTTGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT mutant NA NA NA NA NA 381 163 0.9799364 0.9707199 0.9753281 NA NA 0.8040285 0.99452 NA NA 0.1759078 -0.02380006 NA 0.8992743 NA 0.07605389 NA FALSE NA 0.003 0.608 rs112451272 intron_variant MODIFIER COL6A3 HGNC 2213 ENST00000346358 29/42 rs112451272 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 8.239e-06 2:237347884 COL6A3 HGNC Symbol protein_coding 90372 ENSG00000163359 ENSE00003467345 intron_variant -0.452722 0.15493 0.00126 0.077785 0.5650385 0.141587 7.793308e-11 FALSE NA ENSE00002429043_BRK ENSE00002429043 BRK 2 238256402 238256571 - 48 63 59 A,G; T,T NA NA NA CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCTTGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGCCAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT 237347758 237347928 NA NA NA NA NA NA CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCTTGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGCCAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT CCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAGGGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGGGTAAGTTTGCGTGGGCCTTGGCTGCAGGTGAGGAATGAGAACGTATGT control 47 54 0 0 0 NA NA NA NA NA NA NA 0.8040285 0.99452 NA NA NA NA NA 0.8992743 NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL6A3 NA NA NA ENSG00000163359 ENSE00003467345 NA NA NA NA NA NA NA 7.793308e-11 FALSE NA ENSE00002429616_000 ENSE00002429616 000 6 70964613 70964782 - 53 54 63 NA NA NA NA NA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 NA NA NA NA NA NA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA natural 24 31 0.85 0.85 0.85 1226 1032 0.9751603 0.8429818 0.909071 0.85 0.85 0.9751603 0.8429818 0 0 0 0 0.85 0.909071 0 0 0 FALSE FALSE NA NA NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A1 NA NA NA ENSG00000112280 ENSE00003546278 NA NA NA NA NA NA NA 4.774229e-15 FALSE NA ENSE00002429616_001 ENSE00002429616 001 6 70964613 70964782 - 53 54 63 A G 70964625 1711 158 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCCCTGCCCTGGCCA 70254909 70255079 70254921 70254922 70254922 downstr_intron 41 1.788462 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCCCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 51 77 0.9807807 1 0.9903904 0.85 0.85 0.9751603 0.8429818 NA NA 0.005620376 0.1570182 0.85 0.909071 NA 0.08131931 NA FALSE NA 0.001 1.189 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 rs200069128 1 NA GAG A,G 4.942e-05 6:70254922 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 intron_variant -0.037055 0.19607 0.19652 0.06567 0.5961821 0.261808 4.774229e-15 FALSE 3.25943e-05 ENSE00002429616_002 ENSE00002429616 002 6 70964613 70964782 - 53 54 63 A G 70964627 1712 156 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGCCTCTGCCCTGGCCA 70254909 70255079 70254923 70254924 70254924 downstr_intron 39 1.75 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGCCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 113 177 0.9657374 0.9760027 0.9708701 0.85 0.85 0.9751603 0.8429818 NA NA -0.009422906 0.133021 0.85 0.909071 NA 0.06179905 NA FALSE NA 0 -0.316 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/12 rs565823859 1 NA GAC A,G 1.647e-05 6:70254924 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 intron_variant -0.243738 0.14528 0.08351 0.06567 0.4412995 0.261808 4.774229e-15 FALSE 2.03641e-05 ENSE00002429616_009 ENSE00002429616 009 6 70964613 70964782 - 53 54 63 A G 70964664 1719 119 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGCAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 70254960 70254961 70254961 downstr_intron 2 1.038462 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGCAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 31 3039 0.01257892 0.006495392 0.009537155 0.85 0.85 0.9751603 0.8429818 NA NA -0.9625814 -0.8364864 0.85 0.909071 NA -0.8995339 NA TRUE NA 1 7.607 . splice_donor_variant&non_coding_transcript_variant HIGH COL9A1 HGNC 2217 ENST00000360859 5/12 1 NA TAC A,G 8.236e-06 6:70254961 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 splice_donor_variant 5.656731 0.95116 0.97262 0.078448 0.9944034 0.975244 4.774229e-15 FALSE 4.06289e-06 ENSE00002429616_012 ENSE00002429616 012 6 70964613 70964782 - 53 54 63 T C 70964667 1722 116 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAGGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 70254963 70254964 70254964 exon -2 0.9814815 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAGGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 646 186 0.02007796 0 0.01003898 0.85 0.85 0.9751603 0.8429818 NA NA -0.9550824 -0.8429818 0.85 0.909071 NA -0.8990321 NA TRUE NA 1 6.532 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW COL9A1 HGNC 2217 ENST00000360859 5/13 1 NA CTT T,C 8.236e-06 6:70254964 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 missense_variant 4.723217 0.9495 0.95994 0.706298 0.9974603 0 4.774229e-15 FALSE 4.0626e-06 ENSE00002429616_016 ENSE00002429616 016 6 70964613 70964782 - 53 54 63 C T 70964695 1726 88 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTAATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 70254991 70254992 70254992 exon 25 0.462963 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTAATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 192 75 0.8 0.8 0.8 0.85 0.85 0.9751603 0.8429818 NA NA -0.1751603 -0.04298175 0.85 0.909071 NA -0.109071 NA FALSE NA 1 6.356 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/13 rs372124742 1 NA T:0.0002 T:0 TCA C,T 8.236e-06 6:70254992 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 missense_variant 5.901122 0.95832 0.96257 0.706298 0.9982606 0 4.774229e-15 FALSE 8.12354e-06 ENSE00002429616_023 ENSE00002429616 023 6 70964613 70964782 - 53 54 63 T C 70964711 1733 72 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCGGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 70255007 70255008 70255008 exon 9 0.1666667 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCGGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 350 17 0.9822849 0.9977295 0.9900072 0.85 0.85 0.9751603 0.8429818 NA NA 0.007124602 0.1547477 0.85 0.909071 NA 0.08093616 NA FALSE NA 0.966 -0.005 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/13 rs199559331 1 NA C:0 C:0.0001 CTG T,C 2.471e-05 6:70255008 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 synonymous_variant 0.43534 0.86173 0.74384 0.706298 0.6407833 0 4.774229e-15 FALSE 3.24899e-05 ENSE00002429616_024 ENSE00002429616 024 6 70964613 70964782 - 53 54 63 C A 70964714 1734 69 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTTCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 70255010 70255011 70255011 exon 6 0.1111111 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTTCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 594 57 0.8300945 0.8 0.8150472 0.85 0.85 0.9751603 0.8429818 NA NA -0.1450659 -0.04298175 0.85 0.909071 NA -0.09402381 NA FALSE NA 1 1.619 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 5/13 1 NA GCA C,A 8.236e-06 6:70255011 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 missense_variant 5.468403 0.92962 0.89404 0.706298 0.9972805 0 4.774229e-15 FALSE 4.06118e-06 ENSE00002429616_028 ENSE00002429616 028 6 70964613 70964782 - 53 54 63 A T 70964738 1738 45 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGATTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 70255034 70255035 70255035 upstr_intron -19 -0.2857143 TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGATTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 270 164 0.001419553 0.006478041 0.003948797 0.85 0.85 0.9751603 0.8429818 NA NA -0.9737408 -0.8365037 0.85 0.909071 NA -0.9051222 NA TRUE NA 0 -0.098 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 4/12 rs376521638 1 NA T:0 T:0.0001 AAC A,T 8.236e-06 6:70255035 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 intron_variant 0.087682 0.20528 0.11864 0.06567 0.7422217 0.180017 4.774229e-15 FALSE 4.06194e-06 ENSE00002429616_032 ENSE00002429616 032 6 70964613 70964782 - 53 54 63 C T 70964753 1742 30 TAATGAAGGGAAAAAGAATGTGACTGTGTATAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 70255049 70255050 70255050 upstr_intron -34 -0.5238095 TAATGAAGGGAAAAAGAATGTGACTGTGTATAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA mutant NA NA NA NA NA 119 318 0.9921346 0.9826856 0.9874101 0.85 0.85 0.9751603 0.8429818 NA NA 0.01697422 0.1397038 0.85 0.909071 NA 0.07833903 NA FALSE NA 0 0.238 . intron_variant&non_coding_transcript_variant MODIFIER COL9A1 HGNC 2217 ENST00000360859 4/12 1 NA ACA C,T 1.647e-05 6:70255050 COL9A1 HGNC Symbol protein_coding 88022 ENSG00000112280 ENSE00003546278 intron_variant -0.110654 0.19591 0.19988 0.06567 0.4089794 0.216475 4.774229e-15 FALSE 4.0627e-05 ENSE00002429616_BRK ENSE00002429616 BRK 6 70964613 70964782 - 53 54 63 A,G; T,T NA NA NA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTTTGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGCCAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA 70254909 70255079 NA NA NA NA NA NA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTTTGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGCCAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA TAATGAAGGGAAAAAGAATGTGACTGTGTGTAAGAGACAGTATGTTTCTTTGTGTGTGTTTAGGGTTTGCCAGGTGTGGATGGCCGTGATGGGATCCCTGGAATGCCTGGAACAAAGGTAGGCTGTGTAATTTACTCCAAGAGTGAGTGGGGCTGTCTCTGCCCTGGCCA control NA NA NA NA NA 113 468 0.1502252 0 0.07511259 0.85 0.85 0.9751603 0.8429818 NA NA -0.8249352 -0.8429818 0.85 0.909071 NA -0.8339585 NA TRUE NA NA NA NA NA NA COL9A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA COL9A1 NA NA NA ENSG00000112280 ENSE00003546278 NA NA NA NA NA NA NA 4.774229e-15 FALSE NA ENSE00002429678_000 ENSE00002429678 000 3 185985441 185985610 - 33 93 44 NA NA NA NA NA CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT 186267651 186267821 NA NA NA NA NA NA CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT natural NA NA NA NA NA 271 639 0.9986252 0.9947716 0.9966984 NA NA 0.9986252 0.9947716 NA NA 0 0 NA 0.9966984 NA 0 NA FALSE NA NA NA NA NA NA DGKG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKG NA NA NA ENSG00000058866 ENSE00003787015 NA NA NA NA NA NA NA 5.438214e-06 FALSE NA ENSE00002429678_001 ENSE00002429678 001 3 185985441 185985610 - 33 93 44 C T 185985453 4028 158 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCAAGGGCTGTAGCT 186267651 186267821 186267663 186267664 186267664 downstr_intron 21 1.65625 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCAAGGGCTGTAGCT CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT mutant NA NA NA NA NA 139 329 1 0.9998842 0.9999421 NA NA 0.9986252 0.9947716 NA NA 0.001374791 0.00511268 NA 0.9966984 NA 0.003243736 NA FALSE NA 0 -0.722 . intron_variant MODIFIER DGKG HGNC 2853 ENST00000544847 12/22 1 NA TCG C,T 8.236e-06 3:186267664 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003787015 non_coding_transcript_exon_variant 0.382054 0.20377 0.00991 0.095506 0.8310593 0.0463496 5.438214e-06 FALSE 1.62551e-05 ENSE00002429678_012 ENSE00002429678 012 3 185985441 185985610 - 33 93 44 T C 185985489 4039 122 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATGTGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT 186267651 186267821 186267699 186267700 186267700 exon -16 0.8387097 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATGTGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT mutant NA NA NA NA NA 597 51 0.9997432 0.9619314 0.9808373 NA NA 0.9986252 0.9947716 NA NA 0.001118012 -0.03284016 NA 0.9966984 NA -0.01586107 NA FALSE NA 1 0.993 . missense_variant MODERATE DGKG HGNC 2853 ENST00000544847 12/23 rs200363388 1 probably_damaging(0.999) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATA T,C 5.765e-05 3:186267700 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003787015 missense_variant 4.647494 0.97718 0.89366 0.59774 0.9927408 0 5.438214e-06 FALSE 7.71542e-05 ENSE00002429678_026 ENSE00002429678 026 3 185985441 185985610 - 33 93 44 G C 185985541 4053 70 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAAGGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT 186267651 186267821 186267751 186267752 186267752 exon 26 0.2795699 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAAGGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT mutant NA NA NA NA NA 171 495 0.8285431 1 0.9142716 NA NA 0.9986252 0.9947716 NA NA -0.1700821 0.005228438 NA 0.9966984 NA -0.08242683 NA FALSE NA 0.959 1.401 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:186267752 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003787015 missense_variant 1.985273 0.94298 0.24282 0.582742 0.9706422 0 5.438214e-06 FALSE 4.06078e-06 ENSE00002429678_035 ENSE00002429678 035 3 185985441 185985610 - 33 93 44 G C 185985570 4062 41 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCGCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT 186267651 186267821 186267780 186267781 186267781 upstr_intron -4 -0.06818182 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCGCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT mutant NA NA NA NA NA 41 32 1 1 1 NA NA 0.9986252 0.9947716 NA NA 0.001374791 0.005228438 NA 0.9966984 NA 0.003301615 NA FALSE NA 0.007 0.437 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:186267781 DGKG HGNC Symbol protein_coding 256569 ENSG00000058866 ENSE00003787015 splice_region_variant -0.195741 0.38664 0.4338 0.095506 0.6304794 0.130847 5.438214e-06 FALSE 8.12453e-06 ENSE00002429678_036 ENSE00002429678 036 3 185985441 185985610 - 33 93 44 G A 185985570 4063 41 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCTCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT 186267651 186267821 186267780 186267781 186267781 upstr_intron -4 -0.06818182 CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCTCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT CTTTGCTCACTTTCACTCACTCTCTTTTTCATTTCTCCCCCCAGTTTCACCGCAAATGTGAATTATCAACGTTGTGTGACGGTGGGGAACTCAGAGACCACATCTTACTGCCCACCTCCATATGCCCCATCACCCGGGTAAGTGCTCCTGCCCCGGCGAGGGCTGTAGCT mutant NA NA NA NA NA 169 56 1 1 1 NA NA 0.9986252 0.9947716 NA NA 0.001374791 0.005228438 NA 0.9966984 NA 0.003301615 NA FALSE NA 0.007 0.437 NA NA NA DGKG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA DGKG NA NA NA ENSG00000058866 ENSE00003787015 splice_region_variant 0.071367 0.37873 0.3809 0.095506 0.5930061 0.130847 5.438214e-06 FALSE 1.62491e-05 ENSE00000406871_001 ENSE00000406871 001 17 26912304 26912473 - 33 93 44 G C 26912321 1096 153 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACGATCATAACTAATTCCTT 28585285 28585455 28585302 28585303 28585303 downstr_intron 16 1.5 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACGATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 148 292 0.85 0.85 0.85 49 485 0.95 0.9334428 0.9417214 0.853583 0.8374976 0.9352435 0.9177075 -0.003582952 0.01250242 0.01475652 0.01573531 0.8455403 0.9264755 0.004459734 0.01524591 0.01078618 FALSE FALSE 0 0.132 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 rs536290724 1 NA TGG G,C 1.647e-05 17:28585303 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 intron_variant 0.413433 0.2574 0.16498 0.256867 0.6927999 0.246682 7.256685e-06 FALSE 1.21908e-05 ENSE00000406871_002 ENSE00000406871 002 17 26912304 26912473 - 33 93 44 G A 26912322 1097 152 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGATCATCATAACTAATTCCTT 28585285 28585455 28585303 28585304 28585304 downstr_intron 15 1.46875 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGATCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 10 29 0.85 0.85 0.85 1875 907 0.9467101 0.9334028 0.9400565 0.853583 0.8374976 0.9352435 0.9177075 -0.003582952 0.01250242 0.01146665 0.01569535 0.8455403 0.9264755 0.004459734 0.013581 0.009121266 FALSE FALSE 0.004 0.955 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA GGT G,A 8.236e-06 17:28585304 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 intron_variant 0.716784 0.23365 0.12997 0.256867 0.6164013 0.247864 7.256685e-06 FALSE 4.06352e-06 ENSE00000406871_003 ENSE00000406871 003 17 26912304 26912473 - 33 93 44 C G 26912325 1098 149 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGCGACCATCATAACTAATTCCTT 28585285 28585455 28585306 28585307 28585307 downstr_intron 12 1.375 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGCGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 156 588 0.9871971 0.9842856 0.9857413 0.853583 0.8374976 0.9352435 0.9177075 NA NA 0.05195361 0.06657813 0.8455403 0.9264755 NA 0.05926587 NA FALSE NA 0 0.166 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 rs372390632 1 NA G:0 G:0.0001 CCC C,G 9.06e-05 17:28585307 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 intron_variant 0.550088 0.2373 0.1046 0.256867 0.620727 0.247391 7.256685e-06 FALSE 0.000113782 ENSE00000406871_004 ENSE00000406871 004 17 26912304 26912473 - 33 93 44 A G 26912328 1099 146 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATCTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585309 28585310 28585310 downstr_intron 9 1.28125 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATCTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 124 218 0.85 0.85 0.85 NA NA NA NA NA 0.853583 0.8374976 0.9352435 0.9177075 -0.003582952 0.01250242 NA NA 0.8455403 0.9264755 0.004459734 NA NA NA FALSE 0.159 0.119 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 rs375813400 1 NA G:0 G:0.0001 AAA A,G 8.236e-06 17:28585310 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 intron_variant 0.924085 0.27053 0.09695 0.256867 0.7047673 0.24613 7.256685e-06 FALSE 4.06342e-06 ENSE00000406871_005 ENSE00000406871 005 17 26912304 26912473 - 33 93 44 G A 26912345 1100 129 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGTAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585326 28585327 28585327 exon -9 0.9139785 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGTAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 30 12 0.85 0.85 0.85 213 352 0.00141162 0.01604068 0.008726148 0.853583 0.8374976 0.9352435 0.9177075 -0.003582952 0.01250242 -0.9338319 -0.9016668 0.8455403 0.9264755 0.004459734 -0.9177493 0.9222091 TRUE FALSE 1 2.983 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA TGC G,A 1.647e-05 17:28585327 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 stop_gained 12.40432 0.95215 0.86194 0.706548 0.9978009 0 7.256685e-06 FALSE 1.21886e-05 ENSE00000406871_006 ENSE00000406871 006 17 26912304 26912473 - 33 93 44 C T 26912356 1101 118 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTAGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585337 28585338 28585338 exon -20 0.7956989 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTAGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 305 394 0.004484882 0.04980755 0.02714621 0.853583 0.8374976 0.9352435 0.9177075 NA NA -0.9307586 -0.8678999 0.8455403 0.9264755 NA -0.8993293 NA TRUE NA 1 3.548 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA CCA C,T 8.236e-06 17:28585338 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 stop_gained 13.74943 0.95123 0.86138 0.706548 0.9916804 0 7.256685e-06 FALSE 4.06279e-06 ENSE00000406871_009 ENSE00000406871 009 17 26912304 26912473 - 33 93 44 C T 26912383 1104 91 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAATCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585364 28585365 28585365 exon -47 0.5053763 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAATCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 30 47 0.85 0.85 0.85 1656 1304 0.9755467 0.9748166 0.9751816 0.853583 0.8374976 0.9352435 0.9177075 -0.003582952 0.01250242 0.04030321 0.0571091 0.8455403 0.9264755 0.004459734 0.04870615 0.04424642 FALSE FALSE 0.04 0.179 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 rs367785374 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0005 T:0 ACT C,T 8.236e-05 17:28585365 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 missense_variant 0.913268 0.22618 0.07548 0.706548 0.9627886 0 7.256685e-06 FALSE 6.50211e-05 ENSE00000406871_010 ENSE00000406871 010 17 26912304 26912473 - 33 93 44 T G 26912388 1105 86 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACCGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585369 28585370 28585370 exon 42 0.4516129 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACCGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 14 62 0.8098292 0.8990851 0.8544571 1057 651 0.9679271 0.9889418 0.9784344 0.853583 0.8374976 0.9352435 0.9177075 -0.04375379 0.06158753 0.03268359 0.07123432 0.8455403 0.9264755 0.008916868 0.05195895 0.04304208 FALSE FALSE 0.099 0.026 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA CTG T,G 3.295e-05 17:28585370 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 synonymous_variant 0.578067 0.45821 0.12756 0.706548 0.6812091 0 7.256685e-06 FALSE 2.43859e-05 ENSE00000406871_011 ENSE00000406871 011 17 26912304 26912473 - 33 93 44 C A 26912394 1106 80 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCATCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585375 28585376 28585376 exon 36 0.3870968 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCATCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 101 105 0.8445539 0.9463943 0.8954741 543 3041 0.9346279 0.9510124 0.9428201 0.853583 0.8374976 0.9352435 0.9177075 -0.009029085 0.1088967 -0.0006155975 0.0333049 0.8455403 0.9264755 0.04993382 0.01634465 0.03358917 FALSE FALSE 1 0.869 rs147849564 upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA GCT C,A 8.236e-06 17:28585376 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 missense_variant 4.244028 0.9526 0.82074 0.706548 0.9968803 0 7.256685e-06 FALSE 4.06534e-06 ENSE00000406871_012 ENSE00000406871 012 17 26912304 26912473 - 33 93 44 G C 26912396 1107 78 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTGAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585377 28585378 28585378 exon 34 0.3655914 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTGAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 485 192 0.9463536 0.904264 0.9253088 0.853583 0.8374976 0.9352435 0.9177075 NA NA 0.01111013 -0.01344347 0.8455403 0.9264755 NA -0.001166671 NA FALSE NA 1 2.984 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA TGA G,C 8.236e-06 17:28585378 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 missense_variant 1.88589 0.95371 0.87496 0.706548 0.9802555 0 7.256685e-06 FALSE 4.06524e-06 ENSE00000406871_013 ENSE00000406871 013 17 26912304 26912473 - 33 93 44 C T 26912400 1108 74 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTAGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585381 28585382 28585382 exon 30 0.3225806 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTAGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 1141 430 0.06365897 0.02943379 0.04654638 0.853583 0.8374976 0.9352435 0.9177075 NA NA -0.8715845 -0.8882737 0.8455403 0.9264755 NA -0.8799291 NA TRUE NA 0.998 1.407 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA CCA C,T 8.236e-06 17:28585382 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 synonymous_variant 1.439569 0.92863 0.76381 0.706548 0.7431366 0 7.256685e-06 FALSE 1.62628e-05 ENSE00000406871_014 ENSE00000406871 014 17 26912304 26912473 - 33 93 44 G T 26912411 1109 63 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGAAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585392 28585393 28585393 exon 19 0.2043011 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGAAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 27 19 0.85 0.85 0.85 117 69 0.9938627 1 0.9969313 0.853583 0.8374976 0.9352435 0.9177075 -0.003582952 0.01250242 0.0586192 0.08229255 0.8455403 0.9264755 0.004459734 0.07045587 0.06599614 FALSE FALSE 1 2.979 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA TGC G,T 1.647e-05 17:28585393 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 missense_variant 1.021429 0.92267 0.82158 0.706548 0.9775414 0 7.256685e-06 FALSE 1.62702e-05 ENSE00000406871_015 ENSE00000406871 015 17 26912304 26912473 - 33 93 44 T G 26912413 1110 61 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCACGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585394 28585395 28585395 exon 17 0.1827957 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCACGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 318 39 0.9470712 0.8948289 0.92095 0.853583 0.8374976 0.9352435 0.9177075 NA NA 0.01182769 -0.02287856 0.8455403 0.9264755 NA -0.005525434 NA FALSE NA 0.995 3.64 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 rs202106778 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CTT T,G 8.236e-06 17:28585395 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 missense_variant 2.813521 0.94639 0.87 0.706548 0.9941328 0 7.256685e-06 FALSE 4.06765e-06 ENSE00000406871_016 ENSE00000406871 016 17 26912304 26912473 - 33 93 44 C T 26912417 1111 57 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATACCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585398 28585399 28585399 exon 13 0.1397849 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATACCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 127 1263 0.9326365 0.9649271 0.9487818 0.853583 0.8374976 0.9352435 0.9177075 NA NA -0.002607021 0.04721964 0.8455403 0.9264755 NA 0.02230631 NA FALSE NA 0.007 0.031 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 rs567551242 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCA C,T 8.236e-06 17:28585399 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 missense_variant -0.137738 0.19916 0.0198 0.706548 0.6266994 0 7.256685e-06 FALSE 4.06851e-06 ENSE00000406871_017 ENSE00000406871 017 17 26912304 26912473 - 33 93 44 C A 26912424 1112 50 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGTCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585405 28585406 28585406 exon 6 0.06451613 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGTCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 102 315 1 1 1 0.853583 0.8374976 0.9352435 0.9177075 NA NA 0.06475652 0.08229255 0.8455403 0.9264755 NA 0.07352453 NA FALSE NA 0 -1.766 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA GCC C,A 8.236e-06 17:28585406 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 synonymous_variant 1.052946 0.17935 0.06138 0.706548 0.3260021 0 7.256685e-06 FALSE NA ENSE00000406871_018 ENSE00000406871 018 17 26912304 26912473 - 33 93 44 C A 26912433 1113 41 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTTTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585414 28585415 28585415 upstr_intron -4 -0.06818182 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTTTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 100 3294 0.95 0.9546274 0.9523137 0.853583 0.8374976 0.9352435 0.9177075 NA NA 0.01475652 0.03691997 0.8455403 0.9264755 NA 0.02583824 NA FALSE NA 0 -0.831 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 rs534864055 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 ACA C,A 8.236e-06 17:28585415 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 splice_region_variant -0.317664 0.22619 0.13213 0.115753 0.4530542 0.110802 7.256685e-06 FALSE NA ENSE00000406871_019 ENSE00000406871 019 17 26912304 26912473 - 33 93 44 A G 26912434 1114 40 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTCGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585415 28585416 28585416 upstr_intron -5 -0.09090909 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTCGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 1641 224 0.801088 0.8 0.800544 0.853583 0.8374976 0.9352435 0.9177075 NA NA -0.1341555 -0.1177075 0.8455403 0.9264755 NA -0.1259315 NA FALSE NA 0 0.238 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA CAA A,G 1.647e-05 17:28585416 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 splice_region_variant -1.179926 0.24225 0.11693 0.115753 0.5023086 0.110802 7.256685e-06 FALSE 1.2222e-05 ENSE00000406871_021 ENSE00000406871 021 17 26912304 26912473 - 33 93 44 T C 26912444 1116 30 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAGTCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585425 28585426 28585426 upstr_intron -15 -0.3181818 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAGTCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 1588 1294 0.01259341 0.00074222 0.006667814 0.853583 0.8374976 0.9352435 0.9177075 NA NA -0.9226501 -0.9169652 0.8455403 0.9264755 NA -0.9198077 NA TRUE NA 0 -0.592 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA ATT T,C 1.647e-05 17:28585426 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 intron_variant -0.341808 0.21317 0.06979 0.115753 0.6263314 0.0504578 7.256685e-06 FALSE 8.16053e-06 ENSE00000406871_022 ENSE00000406871 022 17 26912304 26912473 - 33 93 44 G C 26912451 1117 23 TCCAAAGGGAAGGGGTTCCCGCGTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585432 28585433 28585433 upstr_intron -22 -0.4772727 TCCAAAGGGAAGGGGTTCCCGCGTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant 31 58 0.85 0.85 0.85 1016 723 0.8410048 0.8 0.8205024 0.853583 0.8374976 0.9352435 0.9177075 -0.003582952 0.01250242 -0.09423871 -0.1177075 0.8455403 0.9264755 0.004459734 -0.1059731 0.1104328 FALSE FALSE 0 -0.353 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 1 NA AGG G,C 2.471e-05 17:28585433 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 intron_variant -0.740714 0.18105 0.09999 0.099367 0.4735643 0.0504578 7.256685e-06 FALSE 8.1712e-05 ENSE00000406871_024 ENSE00000406871 024 17 26912304 26912473 - 33 93 44 G A 26912454 1119 20 TCCAAAGGGAAGGGGTTCCTGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585435 28585436 28585436 upstr_intron -25 -0.5454545 TCCAAAGGGAAGGGGTTCCTGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 126 193 0.9591599 0.9762031 0.9676815 0.853583 0.8374976 0.9352435 0.9177075 NA NA 0.02391641 0.05849566 0.8455403 0.9264755 NA 0.04120603 NA FALSE NA 0 -0.142 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000580406 rs373968328 1 NA CGG G,A 5.765e-05 17:28585436 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 intron_variant -0.663573 0.17181 0.03248 0.115753 0.3498415 0.0504578 7.256685e-06 FALSE 6.53953e-05 ENSE00000650769_009 ENSE00000650769 009 22 19444054 19444223 - 56 48 66 G A 19444112 50 112 TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCTGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA 19456530 19456700 19456588 19456589 19456589 exon -3 0.9583333 TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCTGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA mutant NA NA NA NA NA 88 48 0.9990609 1 0.9995305 0.9991048 0.9882529 0.9900051 0.9208596 NA NA 0.009055821 0.07914037 0.9936788 0.9554324 NA 0.04409809 NA FALSE NA 1 3.787 . missense_variant&splice_region_variant MODERATE UFD1L HGNC 12520 ENST00000263202 9/12 1 tolerated(0.05) possibly_damaging(0.676) NA CGG G,A 8.236e-06 22:19456589 UFD1 HGNC Symbol protein_coding 29305 ENSG00000070010 ENSE00003508606 missense_variant 6.439813 0.97197 0.93582 0.722319 0.9990519 0 NA NA 1.22003e-05 ENSE00000650769_012 ENSE00000650769 012 22 19444054 19444223 - 56 48 66 G A 19444143 53 81 TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGATCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA 19456530 19456700 19456619 19456620 19456620 exon 15 0.3125 TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGATCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA mutant NA NA NA NA NA 50 1130 0.9966605 0.9992169 0.9979387 0.9991048 0.9882529 0.9900051 0.9208596 NA NA 0.006655368 0.07835723 0.9936788 0.9554324 NA 0.0425063 NA FALSE NA 1 1.533 . synonymous_variant LOW UFD1L HGNC 12520 ENST00000263202 9/12 rs374934335&COSM4102583 1 NA A:0.0002 A:0 GGT G,A 8.236e-06 22:19456620 UFD1 HGNC Symbol protein_coding 29305 ENSG00000070010 ENSE00003508606 synonymous_variant 2.018596 0.96508 0.84455 0.706548 0.5990201 0 NA NA 8.13431e-06 ENSE00000650769_019 ENSE00000650769 019 22 19444054 19444223 - 56 48 66 G A 19444185 60 39 TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGTTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA 19456530 19456700 19456661 19456662 19456662 upstr_intron -28 -0.4090909 TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGTTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA TGGGGGTGAGAGGGAAGCTGGGTGTCCCCGCTGAGGAGCTCACCTGTTTTTCTTTTTCCCTGTCAGGAAGGTGAAGCCGACCACAGTGGCTATGCTGGAGAGCTGGGCTTCCGCGTGAGTACCAGACCACTTGACTTATATTGCTGTGCCCTCTGCTCCTTGAAATTAGA mutant NA NA NA NA NA 75 317 1 0.9995008 0.9997504 0.9991048 0.9882529 0.9900051 0.9208596 NA NA 0.009994898 0.07864114 0.9936788 0.9554324 NA 0.04431802 NA FALSE NA 0 0.343 . intron_variant MODIFIER UFD1L HGNC 12520 ENST00000263202 8/11 rs368182730 1 NA A:0 A:0.0001 AGC G,A 8.236e-06 22:19456662 UFD1 HGNC Symbol protein_coding 29305 ENSG00000070010 ENSE00003508606 non_coding_transcript_exon_variant 0.579697 0.17381 0.03394 0.099367 0.8793308 0.129151 NA NA 4.06765e-06 ENSE00000654866_002 ENSE00000654866 002 22 40760235 40760404 + 45 90 35 C G 40760256 1004 22 CCTTGAGGCACCTTTCTTGGTGATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 40364251 40364252 40364252 upstr_intron -24 -0.5111111 CCTTGAGGCACCTTTCTTGGTGATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 22 337 1 0.9564242 0.9782121 NA NA 0.957911 0.9719424 NA NA 0.042089 -0.01551814 NA 0.9649267 NA 0.01328543 NA FALSE NA 0.003 0.972 . upstream_gene_variant MODIFIER ADSL HGNC 291 ENST00000498234 1 NA TCA C,G 8.236e-06 22:40364252 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 intron_variant 0.328319 0.16806 0.14178 0.295142 0.5397326 0.161914 0.0002125753 FALSE 4.09417e-06 ENSE00000654866_018 ENSE00000654866 018 22 40760235 40760404 + 45 90 35 A C 40760295 1020 61 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCCTTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 40364290 40364291 40364291 exon 16 0.1777778 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCCTTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 17 20 0.8908195 1 0.9454098 NA NA 0.957911 0.9719424 NA NA -0.06709145 0.02805763 NA 0.9649267 NA -0.01951691 NA FALSE NA 1 5.6 . upstream_gene_variant MODIFIER ADSL HGNC 291 ENST00000498234 1 NA CAT A,C 8.236e-06 22:40364291 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 missense_variant 2.553962 0.98157 0.98669 0.722319 0.9643638 0 0.0002125753 FALSE 4.06204e-06 ENSE00000654866_021 ENSE00000654866 021 22 40760235 40760404 + 45 90 35 G A 40760309 1023 75 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTACCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 40364304 40364305 40364305 exon 30 0.3333333 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTACCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 136 68 0.963768 0.9618478 0.9628079 NA NA 0.957911 0.9719424 NA NA 0.005857016 -0.01009453 NA 0.9649267 NA -0.002118757 NA FALSE NA 1 2.369 . upstream_gene_variant MODIFIER ADSL HGNC 291 ENST00000498234 1 NA TGC G,A 8.236e-06 22:40364305 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 synonymous_variant 1.451406 0.97689 0.95651 0.722319 0.8814717 0 0.0002125753 FALSE 4.06233e-06 ENSE00000654866_024 ENSE00000654866 024 22 40760235 40760404 + 45 90 35 A G 40760334 1026 100 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCGTCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 40364329 40364330 40364330 exon -36 0.6111111 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCGTCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 135 118 0.9965977 0.9915074 0.9940525 NA NA 0.957911 0.9719424 NA NA 0.03868672 0.01956499 NA 0.9649267 NA 0.02912586 NA FALSE NA 1 8.528 . upstream_gene_variant MODIFIER ADSL HGNC 291 ENST00000498234 1 NA CAT A,G 8.236e-06 22:40364330 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 missense_variant 4.127907 0.99118 0.99437 0.722319 0.9991289 0 0.0002125753 FALSE 4.06184e-06 ENSE00000654866_027 ENSE00000654866 027 22 40760235 40760404 + 45 90 35 T C 40760360 1029 126 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGCAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 40364355 40364356 40364356 exon -10 0.9 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGCAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 192 47 1 1 1 NA NA 0.957911 0.9719424 NA NA 0.042089 0.02805763 NA 0.9649267 NA 0.03507331 NA FALSE NA 0.525 -0.416 . upstream_gene_variant MODIFIER ADSL HGNC 291 ENST00000498234 1 NA GTA T,C 8.236e-06 22:40364356 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 synonymous_variant 0.70284 0.88461 0.36371 0.722319 0.7187418 0 0.0002125753 FALSE 4.06603e-06 ENSE00000654866_028 ENSE00000654866 028 22 40760235 40760404 + 45 90 35 G A 40760365 1030 131 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCACCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 40364360 40364361 40364361 exon -5 0.9555556 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCACCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 341 10 0.9968392 1 0.9984196 NA NA 0.957911 0.9719424 NA NA 0.03892819 0.02805763 NA 0.9649267 NA 0.03349291 NA FALSE NA 1 8.978 . upstream_gene_variant MODIFIER ADSL HGNC 291 ENST00000498234 COSM1034440&COSM1034441&CM068479 1 NA CGC G,A 4.942e-05 22:40364361 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 missense_variant 7.685119 0.9933 0.99801 0.722319 0.9995537 0 0.0002125753 FALSE 3.66372e-05 ENSE00000654866_034 ENSE00000654866 034 22 40760235 40760404 + 45 90 35 T C 40760385 1036 151 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCACGTTCCTGGATAAGTTGAGA 40364230 40364400 40364380 40364381 40364381 downstr_intron 16 1.470588 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCACGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 22 31 1 1 1 NA NA 0.957911 0.9719424 NA NA 0.042089 0.02805763 NA 0.9649267 NA 0.03507331 NA FALSE NA 0.084 0.758 . upstream_gene_variant MODIFIER ADSL HGNC 291 ENST00000498234 1 NA ATG T,C 8.237e-06 22:40364381 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 intron_variant 0.337098 0.17102 0.16519 0.099367 0.6348293 0.174812 0.0002125753 FALSE 8.1708e-06 ENSE00000654866_035 ENSE00000654866 035 22 40760235 40760404 + 45 90 35 G A 40760393 1037 159 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGAATAAGTTGAGA 40364230 40364400 40364388 40364389 40364389 downstr_intron 24 1.705882 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGAATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 93 346 0.8589941 1 0.9294971 NA NA 0.957911 0.9719424 NA NA -0.09891689 0.02805763 NA 0.9649267 NA -0.03542963 NA FALSE NA 0.027 0.399 . upstream_gene_variant MODIFIER ADSL HGNC 291 ENST00000498234 rs375989742 1 NA A:0.0002 A:0 GGA G,A 8.237e-06 22:40364389 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 intron_variant 0.611302 0.55053 0.16212 0.099367 0.6289535 0.173884 0.0002125753 FALSE NA ENSE00000656890_005 ENSE00000656890 005 14 50801232 50801401 - 51 57 62 T C 50801263 339 139 TGATGACAACTGCTGTGTGCTTCCTGGTCTGCTGGAAGCCATGATTTTTACCTTTAGGAGCCCCAGGGCAGGATAAGAGATGTTTGGGAATTTTAATTCAAGTGGTTCCTGTTGAAAAGAAAAGAGGTTTTTAATTTACAGCATGTATTCAAATTAAGGTTACCTCAAAT 50334513 50334683 50334544 50334545 50334545 downstr_intron 20 1.4 ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAGCAGACCAGGAAGCACACAGCAGTTGTCATCA ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA mutant NA NA NA NA NA 253 306 1 1 1 NA NA 0.9929563 0.9740933 NA NA 0.007043744 0.02590665 NA 0.9835248 NA 0.0164752 NA FALSE NA 0 -0.777 . intron_variant MODIFIER ATP5S HGNC 18799 ENST00000358473 5/5 1 NA GTT T,C 8.236e-06 14:50334545 ATP5S HGNC Symbol protein_coding 23232 ENSG00000125375 ENSE00000656890 3_prime_UTR_variant -0.078236 0.1234 0.0017 0.160075 0.6594285 0.149997 6.304346e-05 FALSE 4.07847e-06 ENSE00000656890_009 ENSE00000656890 009 14 50801232 50801401 - 51 57 62 G C 50801288 343 114 TGATGACAACTGCTGTGTGCTTCCTGGTCTGTTGGAAGCCATGATTTTTACCTTTACGAGCCCCAGGGCAGGATAAGAGATGTTTGGGAATTTTAATTCAAGTGGTTCCTGTTGAAAAGAAAAGAGGTTTTTAATTTACAGCATGTATTCAAATTAAGGTTACCTCAAAT 50334513 50334683 50334569 50334570 50334570 exon -6 0.9122807 ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCGTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA mutant NA NA NA NA NA 31 16 1 1 1 NA NA 0.9929563 0.9740933 NA NA 0.007043744 0.02590665 NA 0.9835248 NA 0.0164752 NA FALSE NA 1 2.264 . intron_variant MODIFIER ATP5S HGNC 18799 ENST00000358473 5/5 1 NA AGG G,C 1.647e-05 14:50334570 ATP5S HGNC Symbol protein_coding 23232 ENSG00000125375 ENSE00000656890 missense_variant 1.390809 0.97732 0.76462 0.566229 0.9964791 0 6.304346e-05 FALSE 8.15209e-06 ENSE00000656890_013 ENSE00000656890 013 14 50801232 50801401 - 51 57 62 T A 50801325 347 77 TGATGACAACTGCTGTGTGCTTCCTGGTCTGTTGGAAGCCATGATTTTTACCTTTAGGAGCCCCAGGGCAGGATAAGAGATGTTTGGGAATTTAAATTCAAGTGGTTCCTGTTGAAAAGAAAAGAGGTTTTTAATTTACAGCATGTATTCAAATTAAGGTTACCTCAAAT 50334513 50334683 50334606 50334607 50334607 exon 15 0.2631579 ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTTAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA mutant NA NA NA NA NA 76 207 1 0.8024375 0.9012187 NA NA 0.9929563 0.9740933 NA NA 0.007043744 -0.1716559 NA 0.9835248 NA -0.08230607 NA FALSE NA 1 0.653 . intron_variant MODIFIER ATP5S HGNC 18799 ENST00000358473 5/5 1 NA TTA T,A 8.236e-06 14:50334607 ATP5S HGNC Symbol protein_coding 23232 ENSG00000125375 ENSE00000656890 missense_variant 2.083398 0.96505 0.79201 0.706548 0.9074725 0 6.304346e-05 FALSE 4.06669e-06 ENSE00000656890_018 ENSE00000656890 018 14 50801232 50801401 - 51 57 62 G A 50801376 352 26 TGATGACAACTGCTGTGTGCTTCCTGGTCTGTTGGAAGCCATGATTTTTACCTTTAGGAGCCCCAGGGCAGGATAAGAGATGTTTGGGAATTTTAATTCAAGTGGTTCCTGTTGAAAAGAAAAGAGGTTTTTAATTTACAGCATATATTCAAATTAAGGTTACCTCAAAT 50334513 50334683 50334657 50334658 50334658 upstr_intron -37 -0.5806452 ATTTGAGGTAACCTTAATTTGAATATATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA ATTTGAGGTAACCTTAATTTGAATACATGCTGTAAATTAAAAACCTCTTTTCTTTTCAACAGGAACCACTTGAATTAAAATTCCCAAACATCTCTTATCCTGCCCTGGGGCTCCTAAAGGTAAAAATCATGGCTTCCAACAGACCAGGAAGCACACAGCAGTTGTCATCA mutant NA NA NA NA NA 122 15 1 1 1 NA NA 0.9929563 0.9740933 NA NA 0.007043744 0.02590665 NA 0.9835248 NA 0.0164752 NA FALSE NA 0 -1.555 . intron_variant MODIFIER ATP5S HGNC 18799 ENST00000358473 5/5 1 NA TGT G,A 8.237e-06 14:50334658 ATP5S HGNC Symbol protein_coding 23232 ENSG00000125375 ENSE00000656890 3_prime_UTR_variant 0.614884 0.15153 0.01853 0.295142 0.6919036 0.174173 6.304346e-05 FALSE 4.14051e-06 ENSE00000658419_001 ENSE00000658419 001 14 64908047 64908216 + 56 69 45 C G 64908066 608 20 AGAAGGTTGGGTTTTTTTGGTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441347 64441348 64441348 upstr_intron -37 -0.6428571 AGAAGGTTGGGTTTTTTTGGTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 440 520 0.7174313 0.8077608 0.762596 1186 39 0.9702174 0.9460081 0.9581127 0.8492803 0.85 0.9417173 0.8899272 -0.1318491 -0.0422392 0.02850009 0.05608093 0.8496402 0.9158222 -0.08704414 0.04229051 0.1293347 FALSE FALSE 0 0.241 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 rs369715418 1 NA G:0.0002 G:0 GCT C,G 8.236e-06 14:64441348 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 0.454812 0.32335 0.17982 0.295142 0.6190954 0.109871 NA NA 4.06075e-06 ENSE00000658419_002 ENSE00000658419 002 14 64908047 64908216 + 56 69 45 G C 64908068 609 22 AGAAGGTTGGGTTTTTTTGCTCGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441349 64441350 64441350 upstr_intron -35 -0.6071429 AGAAGGTTGGGTTTTTTTGCTCGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 11 51 0.85 0.9058622 0.8779311 1105 225 0.9944712 0.9482995 0.9713854 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0.05586223 0.05275391 0.05837234 0.8496402 0.9158222 0.02829094 0.05556312 0.02727218 FALSE FALSE 0 0.01 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA TGG G,C 8.236e-06 14:64441350 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 0.184571 0.24676 0.18443 0.295142 0.5935316 0.109871 NA NA 8.1211e-06 ENSE00000658419_003 ENSE00000658419 003 14 64908047 64908216 + 56 69 45 T A 64908076 610 30 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGATGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441357 64441358 64441358 upstr_intron -27 -0.4642857 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGATGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 208 371 0.85 0.85 0.85 1234 1247 0.8023105 0.8054192 0.8038649 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 -0.1394067 -0.084508 0.8496402 0.9158222 0.0003598299 -0.1119574 0.1123172 FALSE FALSE 0 -3.502 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA GTT T,A 8.236e-06 14:64441358 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant -0.36997 0.05936 0.02886 0.295142 0.3121943 0.109871 NA NA 4.06058e-06 ENSE00000658419_004 ENSE00000658419 004 14 64908047 64908216 + 56 69 45 C G 64908082 611 36 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGGTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441363 64441364 64441364 upstr_intron -21 -0.3571429 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGGTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 61 85 0.85 0.85 0.85 NA NA NA NA NA 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 NA NA 0.8496402 0.9158222 0.0003598299 NA NA NA FALSE 0 -0.914 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA GCT C,G 8.236e-06 14:64441364 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 0.40993 0.22213 0.04472 0.295142 0.4449264 0.109871 NA NA 4.06062e-06 ENSE00000658419_005 ENSE00000658419 005 14 64908047 64908216 + 56 69 45 T C 64908083 612 37 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCCGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441364 64441365 64441365 upstr_intron -20 -0.3392857 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCCGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 187 345 0.8441153 0.85 0.8470577 260 2484 0.7758328 0.8049797 0.7904063 0.8492803 0.85 0.9417173 0.8899272 -0.005164994 0 -0.1658844 -0.08494749 0.8496402 0.9158222 -0.002582497 -0.125416 0.1228335 FALSE FALSE 0 -1.298 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA CTG T,C 8.236e-06 14:64441365 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 0.246167 0.18807 0.03024 0.295142 0.4769018 0.109871 NA NA 2.03029e-05 ENSE00000658419_006 ENSE00000658419 006 14 64908047 64908216 + 56 69 45 A T 64908090 613 44 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACTTTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441371 64441372 64441372 upstr_intron -13 -0.2142857 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACTTTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant NA NA NA NA NA 657 897 0.9998747 0.9988462 0.9993604 0.8492803 0.85 0.9417173 0.8899272 NA NA 0.05815739 0.108919 0.8496402 0.9158222 NA 0.08353819 NA FALSE NA 0 -1.115 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA CAT A,T 8.236e-06 14:64441372 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant -0.081028 0.19197 0.03229 0.295142 0.4553528 0.109871 NA NA 4.06058e-06 ENSE00000658419_008 ENSE00000658419 008 14 64908047 64908216 + 56 69 45 T G 64908093 615 47 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTGGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441374 64441375 64441375 upstr_intron -10 -0.1607143 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTGGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 42 27 0 0 0 725 66 0.003026689 0 0.001513344 0.8492803 0.85 0.9417173 0.8899272 -0.8492803 -0.85 -0.9386906 -0.8899272 0.8496402 0.9158222 -0.8496402 -0.9143089 0.06466872 TRUE TRUE 0.999 3.572 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA TTG T,G 8.236e-06 14:64441375 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 0.173466 0.37608 0.96683 0.295142 0.6739733 0.171711 NA NA 8.1211e-06 ENSE00000658419_009 ENSE00000658419 009 14 64908047 64908216 + 56 69 45 G A 64908103 616 57 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGAGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441384 64441385 64441385 exon 1 0.01449275 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGAGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant NA NA NA NA NA 1354 1461 0.004264655 0.02005211 0.01215838 0.8492803 0.85 0.9417173 0.8899272 NA NA -0.9374526 -0.8698751 0.8496402 0.9158222 NA -0.9036639 NA TRUE NA 1 7.735 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA GGG G,A 8.236e-06 14:64441385 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 missense_variant 5.890651 0.99317 0.99209 0.706548 0.9991901 0 NA NA 4.06088e-06 ENSE00000658419_010 ENSE00000658419 010 14 64908047 64908216 + 56 69 45 G C 64908104 617 58 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGCGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441385 64441386 64441386 exon 2 0.02898551 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGCGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant NA NA NA NA NA 818 642 0.9771497 0.992921 0.9850354 0.8492803 0.85 0.9417173 0.8899272 NA NA 0.03543245 0.1029938 0.8496402 0.9158222 NA 0.06921313 NA FALSE NA 1 7.735 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA GGG G,C 8.236e-06 14:64441386 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 missense_variant 4.870482 0.99459 0.99695 0.706548 0.9979689 0 NA NA 4.06091e-06 ENSE00000658419_011 ENSE00000658419 011 14 64908047 64908216 + 56 69 45 G A 64908106 618 60 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGATGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441387 64441388 64441388 exon 4 0.05797101 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGATGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 20 18 0.8509879 0.9879146 0.9194513 805 1859 0.8855595 0.9721218 0.9288406 0.8492803 0.85 0.9417173 0.8899272 0.001707545 0.1379146 -0.05615778 0.08219455 0.8496402 0.9158222 0.06981109 0.01301839 0.05679271 FALSE FALSE 1 9.608 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA GGT G,A 2.471e-05 14:64441388 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 missense_variant 3.180703 0.9973 0.99901 0.706548 0.998279 0 NA NA 4.46693e-05 ENSE00000658419_012 ENSE00000658419 012 14 64908047 64908216 + 56 69 45 G T 64908108 619 62 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTTAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441389 64441390 64441390 exon 6 0.08695652 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTTAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 139 228 0 0 0 758 1223 0.006819204 0.01152115 0.009170177 0.8492803 0.85 0.9417173 0.8899272 -0.8492803 -0.85 -0.9348981 -0.8784061 0.8496402 0.9158222 -0.8496402 -0.9066521 0.05701189 TRUE TRUE 1 0.822 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA TGA G,T 1.647e-05 14:64441390 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 synonymous_variant 0.389829 0.97927 0.96537 0.706548 0.6339028 0 NA NA 8.12176e-06 ENSE00000658419_013 ENSE00000658419 013 14 64908047 64908216 + 56 69 45 C T 64908118 620 72 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCATTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441399 64441400 64441400 exon 16 0.2318841 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCATTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 201 232 0.8602122 0.85 0.8551061 1461 1248 0.9492301 0.9407885 0.9450093 0.8492803 0.85 0.9417173 0.8899272 0.01093184 0 0.007512819 0.0508613 0.8496402 0.9158222 0.005465922 0.02918706 0.02372114 FALSE FALSE 0.001 -0.174 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA ACT C,T 8.236e-06 14:64441400 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 synonymous_variant 1.228325 0.19831 0.03164 0.706548 0.6073059 0 NA NA 4.06197e-06 ENSE00000658419_014 ENSE00000658419 014 14 64908047 64908216 + 56 69 45 C T 64908122 621 76 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGATAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441403 64441404 64441404 exon 20 0.2898551 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGATAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 109 100 0.85 0.85 0.85 1015 468 0.8 0.9127662 0.8563831 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 -0.1417173 0.02283896 0.8496402 0.9158222 0.0003598299 -0.05943915 0.05979898 FALSE FALSE 1 7.612 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 rs369899921 1 NA T:0.0005 T:0 ACA C,T 8.236e-06 14:64441404 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 missense_variant 6.593149 0.99709 0.99842 0.706548 0.9969594 0 NA NA 4.06187e-06 ENSE00000658419_015 ENSE00000658419 015 14 64908047 64908216 + 56 69 45 A G 64908123 622 77 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACGGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441404 64441405 64441405 exon 21 0.3043478 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACGGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant NA NA NA NA NA 681 1500 0.9997749 0.9906173 0.9951961 0.8492803 0.85 0.9417173 0.8899272 NA NA 0.05805764 0.1006901 0.8496402 0.9158222 NA 0.07937385 NA FALSE NA 0 -2.352 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 rs565152443 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAG A,G 8.236e-06 14:64441405 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 synonymous_variant 0.92308 0.1542 0.04311 0.706548 0.7413592 0 NA NA 4.06171e-06 ENSE00000658419_016 ENSE00000658419 016 14 64908047 64908216 + 56 69 45 G C 64908126 623 80 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTCCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441407 64441408 64441408 exon 24 0.3478261 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTCCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 2595 877 0.006079912 0.05700574 0.03154282 791 1654 0.0003793042 0.04033162 0.02035546 0.8492803 0.85 0.9417173 0.8899272 -0.8432004 -0.7929943 -0.941338 -0.8495956 0.8496402 0.9158222 -0.8180973 -0.8954668 0.07736943 TRUE TRUE 0.975 0.049 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA TGC G,C 8.236e-06 14:64441408 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 synonymous_variant 1.520233 0.97266 0.90144 0.706548 0.7850187 0 NA NA 4.06161e-06 ENSE00000658419_017 ENSE00000658419 017 14 64908047 64908216 + 56 69 45 T A 64908129 624 83 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTAATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441410 64441411 64441411 exon 27 0.3913043 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTAATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 42 134 0.85 0.85 0.85 1020 3592 0.9454606 0.9462823 0.9458714 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 0.003743327 0.05635509 0.8496402 0.9158222 0.0003598299 0.03004921 0.02968938 FALSE FALSE 0.004 -1.154 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA TTA T,A 8.236e-06 14:64441411 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 synonymous_variant 1.785778 0.38727 0.10645 0.706548 0.811394 0 NA NA 4.06161e-06 ENSE00000658419_018 ENSE00000658419 018 14 64908047 64908216 + 56 69 45 A G 64908137 625 91 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGGCGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441418 64441419 64441419 exon -35 0.5072464 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGGCGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 153 37 0 0 0 31 1610 0.05346776 0.02993395 0.04170085 0.8492803 0.85 0.9417173 0.8899272 -0.8492803 -0.85 -0.8882495 -0.8599933 0.8496402 0.9158222 -0.8496402 -0.8741214 0.02448121 TRUE TRUE 1 9.094 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA GAC A,G 8.236e-06 14:64441419 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 missense_variant 6.522985 0.99521 0.9979 0.706548 0.9986989 0 NA NA 4.0619e-06 ENSE00000658419_019 ENSE00000658419 019 14 64908047 64908216 + 56 69 45 C T 64908138 626 92 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGATGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441419 64441420 64441420 exon -34 0.5217391 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGATGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 80 166 0.85 0.85 0.85 652 1350 0.6177561 0.8045819 0.711169 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 -0.3239612 -0.08534529 0.8496402 0.9158222 0.0003598299 -0.2046532 0.2050131 FALSE FALSE 0.923 -0.03 rs137987241 intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 rs137987241 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 ACG C,T 7.413e-05 14:64441420 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 synonymous_variant 1.629295 0.9404 0.24001 0.706548 0.5576459 0 NA NA 4.06223e-05 ENSE00000658419_020 ENSE00000658419 020 14 64908047 64908216 + 56 69 45 G T 64908139 627 93 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACTCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441420 64441421 64441421 exon -33 0.5362319 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACTCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 73 135 0.85 0.85 0.85 1722 585 0.6974641 0.8182361 0.7578501 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 -0.2442531 -0.07169105 0.8496402 0.9158222 0.0003598299 -0.1579721 0.1583319 FALSE FALSE 1 6.519 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 COSM2248158&COSM3706360 1 NA CGC G,T 8.236e-06 14:64441421 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 missense_variant 6.145073 0.99386 0.99486 0.706548 0.9973522 0 NA NA 4.06184e-06 ENSE00000658419_021 ENSE00000658419 021 14 64908047 64908216 + 56 69 45 T C 64908158 628 112 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCACGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441439 64441440 64441440 exon -14 0.8115942 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCACGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 36 60 0.8346226 0.85 0.8423113 NA NA NA NA NA 0.8492803 0.85 0.9417173 0.8899272 -0.01465774 0 NA NA 0.8496402 0.9158222 -0.007328871 NA NA NA FALSE 1 7.828 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA ATG T,C 8.236e-06 14:64441440 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 missense_variant 6.051666 0.99484 0.99673 0.706548 0.9920769 0 NA NA 4.06114e-06 ENSE00000658419_022 ENSE00000658419 022 14 64908047 64908216 + 56 69 45 A G 64908178 629 132 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCGGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441459 64441460 64441460 downstr_intron 7 1.159091 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCGGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 161 225 0.85 0.85 0.85 1513 324 0.9444526 0.9524373 0.948445 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 0.00273532 0.06251015 0.8496402 0.9158222 0.0003598299 0.03262273 0.0322629 FALSE FALSE 0 -0.806 rs182939302 intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 rs182939302 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAG A,G 8.237e-06 14:64441460 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 splice_region_variant 1.053239 0.17489 0.03788 0.156188 0.6215252 0.186857 NA NA 4.06105e-06 ENSE00000658419_023 ENSE00000658419 023 14 64908047 64908216 + 56 69 45 G A 64908181 630 135 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAATGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441462 64441463 64441463 downstr_intron 10 1.227273 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAATGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant NA NA NA NA NA 1766 527 0.9363362 0.9776896 0.9570129 0.8492803 0.85 0.9417173 0.8899272 NA NA -0.005381055 0.08776242 0.8496402 0.9158222 NA 0.04119068 NA FALSE NA 0 0.064 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA AGT G,A 8.236e-06 14:64441463 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 1.009092 0.21321 0.02348 0.156188 0.8207052 0.0921521 NA NA 4.06118e-06 ENSE00000658419_024 ENSE00000658419 024 14 64908047 64908216 + 56 69 45 G A 64908190 631 144 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTACCTTCTTGAATTGGTTTTGGACAGTC 64441328 64441498 64441471 64441472 64441472 downstr_intron 19 1.431818 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTACCTTCTTGAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 79 91 0.85 0.85 0.85 NA NA NA NA NA 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 NA NA 0.8496402 0.9158222 0.0003598299 NA NA NA FALSE 0 -1.185 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 1 NA TGC G,A 1.647e-05 14:64441472 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 0.720644 0.18193 0.01247 0.156188 0.8103748 0.0546611 NA NA 1.21871e-05 ENSE00000658419_025 ENSE00000658419 025 14 64908047 64908216 + 56 69 45 G A 64908198 632 152 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTAAATTGGTTTTGGACAGTC 64441328 64441498 64441479 64441480 64441480 downstr_intron 27 1.613636 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTAAATTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant NA NA NA NA NA 783 1344 0.7945702 0.6698395 0.7322049 0.8492803 0.85 0.9417173 0.8899272 NA NA -0.147147 -0.2200877 0.8496402 0.9158222 NA -0.1836174 NA FALSE NA 0 0.568 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 rs199568759 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 TGA G,A 8.236e-06 14:64441480 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 0.41213 0.2816 0.02333 0.156188 0.6350692 0.524156 NA NA 1.62562e-05 ENSE00000658419_026 ENSE00000658419 026 14 64908047 64908216 + 56 69 45 T C 64908201 633 155 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAACTGGTTTTGGACAGTC 64441328 64441498 64441482 64441483 64441483 downstr_intron 30 1.681818 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAACTGGTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 55 75 0.85 0.85 0.85 NA NA NA NA NA 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 NA NA 0.8496402 0.9158222 0.0003598299 NA NA NA FALSE 0 -3.587 rs186954030 intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 rs186954030 1 C:0.0014 C:0 C:0.0058 NA C:0 C:0.003 C:0 C:0.0009 C:0.0073 ATT T,C 0.004374 14:64441483 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant -0.099524 0.09875 0.00703 0.156188 0.4907639 0.0546611 NA NA 0.00413005 ENSE00000658419_027 ENSE00000658419 027 14 64908047 64908216 + 56 69 45 G T 64908204 634 158 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGTTTTTGGACAGTC 64441328 64441498 64441485 64441486 64441486 downstr_intron 33 1.75 AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGTTTTTGGACAGTC AGAAGGTTGGGTTTTTTTGCTGGTGGGAGTTGATGCTGCACACATTTGTTTTGTAGGGGGTGAGTGGTGCACTGACAGTGCTTATGAAGGACGCAATCAAGCCCAATCTCATGCAGACACTGGAGGTGAGCAGAGTGACTCCTGCCTTCTTGAATTGGTTTTGGACAGTC mutant 205 202 0.85 0.85 0.85 597 2007 0.9522066 0.9456446 0.9489256 0.8492803 0.85 0.9417173 0.8899272 0.0007196598 0 0.01048938 0.05571744 0.8496402 0.9158222 0.0003598299 0.03310341 0.03274358 FALSE FALSE 0 -0.386 rs140015984 intron_variant&non_coding_transcript_variant MODIFIER CTD-2555O16.2 Clone_based_vega_gene NA ENST00000556640 1/1 rs140015984 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 GGT G,T 8.236e-06 14:64441486 AL122035.1 Clone-based (Ensembl) gene antisense 25622 ENSG00000258824 ENSE00003595047 non_coding_transcript_exon_variant 0.12418 0.15438 0.01442 0.156188 0.6792289 0.0546611 NA NA 4.06676e-06 ENSE00000658636_001 ENSE00000658636 001 14 68052238 68052407 + 47 87 36 T C 68052256 804 19 AATCTCTAACTATGGATACATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585538 67585539 67585539 upstr_intron -29 -0.5957447 AATCTCTAACTATGGATACATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 171 907 0.9997591 0.9060542 0.9529066 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.04935413 -0.05009263 0.8927933 0.9532759 NA -0.0003692512 NA FALSE NA 0.001 0.918 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 1 NA ATA T,C 2.549e-05 14:67585539 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 non_coding_transcript_exon_variant 0.102968 0.24283 0.20017 0.078448 0.4801895 0.0526402 0.06988158 FALSE 2.47632e-05 ENSE00000658636_002 ENSE00000658636 002 14 68052238 68052407 + 47 87 36 T C 68052263 805 26 AATCTCTAACTATGGATATATCTGACGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585545 67585546 67585546 upstr_intron -22 -0.4468085 AATCTCTAACTATGGATATATCTGACGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 16 183 0.8800451 0.9991348 0.93959 0.9734481 0.8121384 0.950405 0.9561468 NA NA -0.07035985 0.04298798 0.8927933 0.9532759 NA -0.01368594 NA FALSE NA 0.001 -0.58 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 rs529921310 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATG T,C 1.685e-05 14:67585546 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 non_coding_transcript_exon_variant -0.033719 0.17868 0.03877 0.078448 0.4364515 0.0526402 0.06988158 FALSE 5.93676e-06 ENSE00000658636_003 ENSE00000658636 003 14 68052238 68052407 + 47 87 36 G A 68052264 806 27 AATCTCTAACTATGGATATATCTGATAGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585546 67585547 67585547 upstr_intron -21 -0.4255319 AATCTCTAACTATGGATATATCTGATAGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 80 379 0.9942003 1 0.9971002 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.04379537 0.04385318 0.8927933 0.9532759 NA 0.04382428 NA FALSE NA 0 -0.06 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 rs369323913 1 NA A:0.0003 A:0 TGG G,A 8.418e-06 14:67585547 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 non_coding_transcript_exon_variant 0.00638 0.19006 0.0355 0.078448 0.3597941 0.0526402 0.06988158 FALSE 5.90975e-06 ENSE00000658636_004 ENSE00000658636 004 14 68052238 68052407 + 47 87 36 T C 68052270 807 33 AATCTCTAACTATGGATATATCTGATGGGTTGCTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585552 67585553 67585553 upstr_intron -15 -0.2978723 AATCTCTAACTATGGATATATCTGATGGGTTGCTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 296 215 1 1 1 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.04959504 0.04385318 0.8927933 0.9532759 NA 0.04672411 NA FALSE NA 0.858 0.922 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 1 NA GTT T,C 8.38e-06 14:67585553 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 non_coding_transcript_exon_variant 0.213229 0.73339 0.46736 0.053691 0.6024918 0.0526402 0.06988158 FALSE 2.26675e-05 ENSE00000658636_006 ENSE00000658636 006 14 68052238 68052407 + 47 87 36 G A 68052312 809 75 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACACTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585594 67585595 67585595 exon 28 0.3218391 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACACTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 978 32 0.9998316 0.9376097 0.9687207 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.0494266 -0.01853707 0.8927933 0.9532759 NA 0.01544476 NA FALSE NA 0 -0.947 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 rs377115216 1 NA A:0.0002 A:0 CGC G,A 1.661e-05 14:67585595 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 missense_variant -1.747807 0.189 0.01819 0.661447 0.6361194 0 0.06988158 FALSE NA ENSE00000658636_007 ENSE00000658636 007 14 68052238 68052407 + 47 87 36 T C 68052316 810 79 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCCGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585598 67585599 67585599 exon 32 0.3678161 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCCGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 349 1036 0.8696555 0.9991877 0.9344216 0.9734481 0.8121384 0.950405 0.9561468 NA NA -0.0807495 0.04304091 0.8927933 0.9532759 NA -0.0188543 NA FALSE NA 0.127 0.992 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 1 NA CTG T,C 1.661e-05 14:67585599 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 missense_variant 1.142712 0.96425 0.75305 0.661447 0.6647256 0 0.06988158 FALSE 2.43938e-05 ENSE00000658636_008 ENSE00000658636 008 14 68052238 68052407 + 47 87 36 T C 68052325 811 88 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGACTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585607 67585608 67585608 exon 41 0.4712644 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGACTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 1767 550 0.9972316 0.998815 0.9980233 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.04682663 0.04266814 0.8927933 0.9532759 NA 0.04474738 NA FALSE NA 1 7.661 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 1 NA ATT T,C 8.304e-06 14:67585608 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 missense_variant 4.077082 0.99398 0.99676 0.661447 0.9952642 0 0.06988158 FALSE NA ENSE00000658636_009 ENSE00000658636 009 14 68052238 68052407 + 47 87 36 T C 68052329 812 92 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCCGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585611 67585612 67585612 exon -43 0.5172414 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCCGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 1535 10042 0.9075371 0.9892119 0.9483745 0.9734481 0.8121384 0.950405 0.9561468 NA NA -0.04286786 0.03306508 0.8927933 0.9532759 NA -0.004901386 NA FALSE NA 0.998 0.36 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 1 NA CTG T,C 8.304e-06 14:67585612 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 synonymous_variant 0.509466 0.97662 0.91524 0.661447 0.6976886 0 0.06988158 FALSE NA ENSE00000658636_010 ENSE00000658636 010 14 68052238 68052407 + 47 87 36 C T 68052344 813 107 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGTGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585626 67585627 67585627 exon -28 0.6896552 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGTGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 1116 687 0.9995937 0.9965477 0.9980707 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.0491887 0.04040084 0.8927933 0.9532759 NA 0.04479477 NA FALSE NA 0 -1.348 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 1 NA GCG C,T 1.663e-05 14:67585627 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 synonymous_variant 2.084868 0.17735 0.01027 0.661447 0.7889054 0 0.06988158 FALSE NA ENSE00000658636_012 ENSE00000658636 012 14 68052238 68052407 + 47 87 36 C G 68052360 815 123 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACGACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585642 67585643 67585643 exon -12 0.8735632 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACGACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 487 313 0.9996852 1 0.9998426 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.04928023 0.04385318 0.8927933 0.9532759 NA 0.04656671 NA FALSE NA 0.998 1.309 . downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 rs369973144 1 NA G:0.0002 G:0 CCA C,G 8.348e-06 14:67585643 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 missense_variant 3.267523 0.98164 0.91944 0.661447 0.9602484 0 0.06988158 FALSE 5.53312e-06 ENSE00000658636_013 ENSE00000658636 013 14 68052238 68052407 + 47 87 36 T C 68052368 816 131 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACCATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT 67585520 67585690 67585650 67585651 67585651 exon -4 0.9655172 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACCATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 121 2168 1 0.9915676 0.9957838 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.04959504 0.03542077 0.8927933 0.9532759 NA 0.0425079 NA FALSE NA 0.001 -1.31 rs116175610 downstream_gene_variant MODIFIER PIGH HGNC 8964 ENST00000558493 rs116175610 1 C:0.0064 C:0.0227 C:0.0029 NA C:0 C:0 C:0 C:0.0151 C:0.0001 CTA T,C 0.001366 14:67585651 PIGH HGNC Symbol protein_coding 18332 ENSG00000100564 ENSE00003542998 synonymous_variant 0.920138 0.73046 0.14303 0.661447 0.6065677 0 0.06988158 FALSE 0.00130049 ENSE00000658850_001 ENSE00000658850 001 14 70842361 70842530 - 32 96 42 C T 70842376 901 155 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAACCAGAAACCTGGCAC 70375643 70375813 70375658 70375659 70375659 downstr_intron 17 1.548387 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAACCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 69 105 1 1 1 NA NA 0.9640471 0.9054337 NA NA 0.03595286 0.09456632 NA 0.9347404 NA 0.06525959 NA FALSE NA 0.001 -0.123 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA GCT C,T 8.236e-06 14:70375659 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 intron_variant 0.355311 0.18966 0.04525 0.156188 0.6374436 0.0715842 NA NA 1.67861e-05 ENSE00000658850_002 ENSE00000658850 002 14 70842361 70842530 - 32 96 42 A T 70842385 902 146 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTAACACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375667 70375668 70375668 downstr_intron 8 1.258065 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTAACACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 958 57 0.9984867 0.9236262 0.9610565 NA NA 0.9640471 0.9054337 NA NA 0.03443956 0.01819255 NA 0.9347404 NA 0.02631606 NA FALSE NA 0.67 3.556 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA GAT A,T 8.236e-06 14:70375668 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 splice_region_variant 0.349834 0.24354 0.52411 0.156188 0.8118601 0.0812381 NA NA NA ENSE00000658850_003 ENSE00000658850 003 14 70842361 70842530 - 32 96 42 T C 70842386 903 145 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTGTCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375668 70375669 70375669 downstr_intron 7 1.225806 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTGTCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 126 714 0.9925855 0.9979485 0.995267 NA NA 0.9640471 0.9054337 NA NA 0.02853831 0.09251481 NA 0.9347404 NA 0.06052656 NA FALSE NA 0.65 -0.316 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA ATA T,C 8.236e-06 14:70375669 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 splice_region_variant 0.297136 0.18253 0.00836 0.156188 0.7368192 0.0812381 NA NA 4.10374e-06 ENSE00000658850_004 ENSE00000658850 004 14 70842361 70842530 - 32 96 42 C A 70842388 904 143 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGTTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375670 70375671 70375671 downstr_intron 5 1.16129 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGTTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 1971 1028 0.0507581 0.01884682 0.03480246 NA NA 0.9640471 0.9054337 NA NA -0.913289 -0.8865869 NA 0.9347404 NA -0.899938 NA TRUE NA 0.966 4.276 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA ACC C,A 8.236e-06 14:70375671 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 splice_region_variant 1.346784 0.48235 0.91234 0.156188 0.7993215 0.64993 NA NA NA ENSE00000658850_005 ENSE00000658850 005 14 70842361 70842530 - 32 96 42 C T 70842394 905 137 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAAGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375676 70375677 70375677 exon -2 0.9895833 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAAGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 777 817 0.9882572 0.9998064 0.9940318 NA NA 0.9640471 0.9054337 NA NA 0.02421009 0.09437269 NA 0.9347404 NA 0.05929139 NA FALSE NA 1 1.997 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA CCT C,T 8.236e-06 14:70375677 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 2.801797 0.97905 0.73301 0.706548 0.9748031 0 NA NA 4.08477e-06 ENSE00000658850_006 ENSE00000658850 006 14 70842361 70842530 - 32 96 42 T C 70842395 906 136 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACGGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375677 70375678 70375678 exon -3 0.9791667 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACGGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 387 998 0.9977452 0.9998415 0.9987934 NA NA 0.9640471 0.9054337 NA NA 0.03369809 0.09440782 NA 0.9347404 NA 0.06405295 NA FALSE NA 1 2.105 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA CTG T,C 8.236e-06 14:70375678 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 4.072502 0.9766 0.82036 0.706548 0.9952276 0 NA NA 4.0835e-06 ENSE00000658850_008 ENSE00000658850 008 14 70842361 70842530 - 32 96 42 C A 70842433 908 98 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCTTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375715 70375716 70375716 exon -41 0.5833333 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCTTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 49 562 1 0.9673473 0.9836737 NA NA 0.9640471 0.9054337 NA NA 0.03595286 0.06191366 NA 0.9347404 NA 0.04893326 NA FALSE NA 1 2.8 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA ACG C,A 8.236e-06 14:70375716 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 6.726918 0.98711 0.89441 0.706548 0.9969171 0 NA NA 4.06481e-06 ENSE00000658850_009 ENSE00000658850 009 14 70842361 70842530 - 32 96 42 G A 70842440 909 91 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACTTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375722 70375723 70375723 exon -48 0.5104167 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACTTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 3304 660 0.9969871 0.9885103 0.9927487 NA NA 0.9640471 0.9054337 NA NA 0.03293993 0.08307662 NA 0.9347404 NA 0.05800828 NA FALSE NA 1 3.896 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA AGG G,A 8.236e-06 14:70375723 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 5.144908 0.9869 0.90572 0.706548 0.9988594 0 NA NA 2.03227e-05 ENSE00000658850_010 ENSE00000658850 010 14 70842361 70842530 - 32 96 42 C G 70842443 910 88 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTACACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375725 70375726 70375726 exon 46 0.4791667 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTACACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 209 1012 1 0.9999624 0.9999812 NA NA 0.9640471 0.9054337 NA NA 0.03595286 0.0945287 NA 0.9347404 NA 0.06524078 NA FALSE NA 0.976 0.12 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA TCT C,G 8.236e-06 14:70375726 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 5.205593 0.96671 0.73355 0.706548 0.9924494 0 NA NA NA ENSE00000658850_011 ENSE00000658850 011 14 70842361 70842530 - 32 96 42 G C 70842458 911 73 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGGACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375740 70375741 70375741 exon 31 0.3229167 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGGACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 309 36 1 0.9570531 0.9785266 NA NA 0.9640471 0.9054337 NA NA 0.03595286 0.05161943 NA 0.9347404 NA 0.04378615 NA FALSE NA 1 5.478 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA TGC G,C 8.236e-06 14:70375741 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 6.430798 0.98792 0.94936 0.706548 0.993441 0 NA NA 4.06326e-06 ENSE00000658850_012 ENSE00000658850 012 14 70842361 70842530 - 32 96 42 A G 70842460 912 71 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCCGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375742 70375743 70375743 exon 29 0.3020833 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCCGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 137 74 1 0.9978568 0.9989284 NA NA 0.9640471 0.9054337 NA NA 0.03595286 0.09242307 NA 0.9347404 NA 0.06418796 NA FALSE NA 1 1.851 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA CAG A,G 8.236e-06 14:70375743 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 4.282852 0.97696 0.77838 0.706548 0.997897 0 NA NA 1.21909e-05 ENSE00000658850_013 ENSE00000658850 013 14 70842361 70842530 - 32 96 42 G A 70842461 913 70 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGTTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375743 70375744 70375744 exon 28 0.2916667 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGTTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 93 355 0.9782595 0.9960449 0.9871522 NA NA 0.9640471 0.9054337 NA NA 0.01421231 0.09061125 NA 0.9347404 NA 0.05241178 NA FALSE NA 1 1.651 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 COSM2136049 1 NA AGC G,A 8.236e-06 14:70375744 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 1.395793 0.97293 0.79581 0.706548 0.8091549 0 NA NA 1.21916e-05 ENSE00000658850_014 ENSE00000658850 014 14 70842361 70842530 - 32 96 42 G A 70842465 914 66 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAATCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375747 70375748 70375748 exon 24 0.25 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAATCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 832 88 0.9394062 0.9981985 0.9688024 NA NA 0.9640471 0.9054337 NA NA -0.0246409 0.09276486 NA 0.9347404 NA 0.03406198 NA FALSE NA 1 0.419 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 rs541339851 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 GGT G,A 8.236e-06 14:70375748 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 1.301718 0.96597 0.51989 0.706548 0.7751477 0 NA NA 1.62607e-05 ENSE00000658850_015 ENSE00000658850 015 14 70842361 70842530 - 32 96 42 G A 70842474 915 57 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGATCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375756 70375757 70375757 exon 15 0.15625 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGATCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 278 1319 1 0.9971518 0.9985759 NA NA 0.9640471 0.9054337 NA NA 0.03595286 0.09171814 NA 0.9347404 NA 0.0638355 NA FALSE NA 1 1.575 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA GGT G,A 1.647e-05 14:70375757 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 missense_variant 1.279545 0.96803 0.69289 0.706548 0.7759745 0 NA NA 8.13068e-06 ENSE00000658850_016 ENSE00000658850 016 14 70842361 70842530 - 32 96 42 A C 70842494 916 37 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTGGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375776 70375777 70375777 upstr_intron -6 -0.1190476 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTGGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 131 507 0.95 0.9389651 0.9444825 NA NA 0.9640471 0.9054337 NA NA -0.01404714 0.03353137 NA 0.9347404 NA 0.009742114 NA FALSE NA 0.991 1.846 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA CAA A,C 8.237e-06 14:70375777 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 splice_region_variant 0.472831 0.9638 0.91999 0.099367 0.7431504 0.264631 NA NA 4.09118e-06 ENSE00000658850_017 ENSE00000658850 017 14 70842361 70842530 - 32 96 42 A G 70842499 917 32 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGCGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375781 70375782 70375782 upstr_intron -11 -0.2380952 ATAGCCTTCTTCCTTTCTTACTACTCTTTGGCGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 331 270 1 1 1 NA NA 0.9640471 0.9054337 NA NA 0.03595286 0.09456632 NA 0.9347404 NA 0.06525959 NA FALSE NA 0.97 2.263 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 rs199670786 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAC A,G 1.647e-05 14:70375782 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 intron_variant 1.225375 0.97268 0.90031 0.099367 0.7647143 0.265434 NA NA 4.10796e-06 ENSE00000658850_018 ENSE00000658850 018 14 70842361 70842530 - 32 96 42 A G 70842502 918 29 ATAGCCTTCTTCCTTTCTTACTACTCTTCGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC 70375643 70375813 70375784 70375785 70375785 upstr_intron -14 -0.3095238 ATAGCCTTCTTCCTTTCTTACTACTCTTCGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC ATAGCCTTCTTCCTTTCTTACTACTCTTTGGTGTTTTGACAGGTAAATGGCCAAGACCTAAAGAACCTGCTGCACCAGGATGCTGTAGACCTCTTTCGTAATGCAGGCTATGCTGTGTCTCTGAGAGTGCAGCACAGGGTAGGTATCACTTTGAGCCAGAAACCTGGCAC mutant NA NA NA NA NA 517 18 0.9997035 1 0.9998517 NA NA 0.9640471 0.9054337 NA NA 0.03565632 0.09456632 NA 0.9347404 NA 0.06511132 NA FALSE NA 0.961 1.644 . intron_variant&non_coding_transcript_variant MODIFIER SYNJ2BP-COX16 HGNC 48350 ENST00000555276 1/3 1 NA CAA A,G 1.647e-05 14:70375785 SYNJ2BP-COX16 HGNC Symbol protein_coding 91010 ENSG00000258644 ENSE00003584628 intron_variant 0.903219 0.92866 0.70593 0.099367 0.6946735 0.253452 NA NA 1.23499e-05 ENSE00000667042_002 ENSE00000667042 002 16 4721336 4721505 + 56 69 45 A G 4721348 341 13 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCACATGAGGGCTCCT 4671334 4671504 4671346 4671347 4671347 upstr_intron -44 -0.7678571 AGGAGCCCTCATGTGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 599 324 1 0.9995116 0.9997558 0.9923101 0.9828301 0.996872 0.8605212 NA NA 0.003128026 0.1389904 0.9875701 0.9286966 NA 0.0710592 NA FALSE NA 0 -0.224 . intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 1/3 1 NA TAT A,G 8.264e-06 16:4671347 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 non_coding_transcript_exon_variant -0.095221 0.06123 0.00266 0.256867 0.3387257 0.0476178 0.4501779 FALSE 4.07206e-06 ENSE00000667042_003 ENSE00000667042 003 16 4721336 4721505 + 56 69 45 T C 4721349 342 14 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCGTATGAGGGCTCCT 4671334 4671504 4671347 4671348 4671348 upstr_intron -43 -0.75 AGGAGCCCTCATACGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 473 422 0.9941756 1 0.9970878 0.9923101 0.9828301 0.996872 0.8605212 NA NA -0.002696422 0.1394788 0.9875701 0.9286966 NA 0.0683912 NA FALSE NA 0 0.517 . intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 1/3 1 NA ATG T,C 8.265e-06 16:4671348 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 non_coding_transcript_exon_variant -0.094066 0.13537 0.15555 0.256867 0.3287396 0.0476178 0.4501779 FALSE 4.07166e-06 ENSE00000667042_005 ENSE00000667042 005 16 4721336 4721505 + 56 69 45 A G 4721353 344 18 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACCGCCATATGAGGGCTCCT 4671334 4671504 4671351 4671352 4671352 upstr_intron -39 -0.6785714 AGGAGCCCTCATATGGCGGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 21 139 0.9072525 0.9919507 0.9496016 0.9923101 0.9828301 0.996872 0.8605212 NA NA -0.08961952 0.1314295 0.9875701 0.9286966 NA 0.020905 NA FALSE NA 0 -0.968 rs115873109 intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 1/3 rs115873109 1 G:0.0080 G:0.0295 G:0.0014 NA G:0 G:0 G:0 G:0.0135 G:0 CAG A,G 0.001289 16:4671352 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 non_coding_transcript_exon_variant 0.044891 0.08791 0.00074 0.256867 0.3107245 0.0476178 0.4501779 FALSE 0.00103804 ENSE00000667042_007 ENSE00000667042 007 16 4721336 4721505 + 56 69 45 G A 4721358 346 23 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCGTCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671356 4671357 4671357 upstr_intron -34 -0.5892857 AGGAGCCCTCATATGGCAGTTGACGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant 21 14 0.85 0.9951093 0.9225547 54 214 1 0.8230671 0.9115336 0.9923101 0.9828301 0.996872 0.8605212 -0.1423101 0.01227921 0.003128026 -0.03745407 0.9875701 0.9286966 -0.06501546 -0.01716302 0.04785244 FALSE FALSE 0.002 0.216 . intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 1/3 1 NA GGC G,A 8.264e-06 16:4671357 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 non_coding_transcript_exon_variant 0.032245 0.12433 0.08476 0.256867 0.3962846 0.0476178 0.4501779 FALSE 4.06884e-06 ENSE00000667042_008 ENSE00000667042 008 16 4721336 4721505 + 56 69 45 C T 4721359 347 24 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGCCCTCACCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671357 4671358 4671358 upstr_intron -33 -0.5714286 AGGAGCCCTCATATGGCAGTTGGTGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 620 43 1 0.9256763 0.9628381 0.9923101 0.9828301 0.996872 0.8605212 NA NA 0.003128026 0.06515511 0.9875701 0.9286966 NA 0.03414157 NA FALSE NA 0 0.234 . intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 1/3 1 NA GCG C,T 1.653e-05 16:4671358 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 non_coding_transcript_exon_variant 0.001915 0.12717 0.09936 0.256867 0.4176755 0.0476178 0.4501779 FALSE 2.0357e-05 ENSE00000667042_010 ENSE00000667042 010 16 4721336 4721505 + 56 69 45 G A 4721364 349 29 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGGGGCTCACTGGGTCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671362 4671363 4671363 upstr_intron -28 -0.4821429 AGGAGCCCTCATATGGCAGTTGGCGAGGACCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 34 146 1 0.9650345 0.9825173 0.9923101 0.9828301 0.996872 0.8605212 NA NA 0.003128026 0.1045133 0.9875701 0.9286966 NA 0.05382067 NA FALSE NA 0 -0.185 . intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 1/3 rs201846590 1 A:0.0008 A:0 A:0.0014 NA A:0 A:0.003 A:0 A:0.001 A:0.0019 GGC G,A 0.00138 16:4671363 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 non_coding_transcript_exon_variant 0.314612 0.16989 0.07929 0.256867 0.6848778 0.0476527 0.4501779 FALSE 0.00145571 ENSE00000667042_011 ENSE00000667042 011 16 4721336 4721505 + 56 69 45 C G 4721376 350 41 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGAGAGCGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671374 4671375 4671375 upstr_intron -16 -0.2678571 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCGCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 16 45 1 0.9920068 0.9960034 0.9923101 0.9828301 0.996872 0.8605212 NA NA 0.003128026 0.1314856 0.9875701 0.9286966 NA 0.06730683 NA FALSE NA 0.015 0.454 . intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 1/3 1 NA CCC C,G 8.259e-06 16:4671375 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 mature_miRNA_variant 0.435255 0.21398 0.09131 0.256867 0.7587907 0.133521 0.4501779 FALSE 4.06266e-06 ENSE00000667042_013 ENSE00000667042 013 16 4721336 4721505 + 56 69 45 C G 4721379 352 44 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGGAGAGCAGACAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671377 4671378 4671378 upstr_intron -13 -0.2142857 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTGTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant NA NA NA NA NA 105 46 0.9746955 0.9446524 0.9596739 0.9923101 0.9828301 0.996872 0.8605212 NA NA -0.0221765 0.08413122 0.9875701 0.9286966 NA 0.03097736 NA FALSE NA 0.198 0.154 . intron_variant&non_coding_transcript_variant MODIFIER MGRN1 HGNC 20254 ENST00000588015 1/3 1 NA TCT C,G 8.259e-06 16:4671378 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 mature_miRNA_variant 0.573255 0.17619 0.02768 0.256867 0.6953656 0.169398 0.4501779 FALSE 4.06233e-06 ENSE00000667042_015 ENSE00000667042 015 16 4721336 4721505 + 56 69 45 C G 4721388 354 53 GTGGGCTTCTGTAATGGCAGAGGGAAACCTCACCCAGATACACACCTTGGTCTCCTGGTTGTTCTTGTTCTCAATGCCATAGATCTCCTGCAGGAGGTAGCTGACCCGGTCCACCTGCAGAGCAGAGAGGGGCTCACTGGGCCCTCGCCAACTGCCATATGAGGGCTCCT 4671334 4671504 4671386 4671387 4671387 upstr_intron -4 -0.05357143 AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTGCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC AGGAGCCCTCATATGGCAGTTGGCGAGGGCCCAGTGAGCCCCTCTCTGCTCTCCAGGTGGACCGGGTCAGCTACCTCCTGCAGGAGATCTATGGCATTGAGAACAAGAACAACCAGGAGACCAAGGTGTGTATCTGGGTGAGGTTTCCCTCTGCCATTACAGAAGCCCAC mutant 18 25 0.98947 0.9702733 0.9798717 95 454 1 0.9997481 0.9998741 0.9923101 0.9828301 0.996872 0.8605212 -0.002840088 -0.01255677 0.003128026 0.1392269 0.9875701 0.9286966 -0.00769843 0.07117749 0.07887592 FALSE FALSE 0 0.254 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MGRN1 HGNC 20254 ENST00000588015 1/3 1 NA TCC C,G 1.652e-05 16:4671387 MGRN1 HGNC Symbol protein_coding 74481 ENSG00000102858 ENSE00003469259 splice_region_variant 1.4788 0.77776 0.11278 0.256867 0.8770991 0.29545 0.4501779 FALSE 8.12374e-06 ENSE00000676004_001 ENSE00000676004 001 16 19721790 19721959 - 41 78 51 C T 19721806 1186 154 GAGCGTGCCACCTCCTTGCAGAGCCCTAGCCCCAAACTTACCGTCCACTTCCTGGTTTCAGAAGCTTCCGTTTTGCCTGACTCGCGATCGATCTCTTCTTGCAAGGCCTTTCGCCTCACCTGAGCAAGAAGGATGACAGAAGAGGGCCGTCAGACAGAGATCTTCTTTCA 19710467 19710637 19710483 19710484 19710484 downstr_intron 25 1.625 TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCAAGGAGGTGGCACGCTC TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC mutant NA NA NA NA NA 405 85 0.9985687 0.9972676 0.9979181 0.9886455 0.9935204 0.970189 0.9994417 NA NA 0.02837962 -0.002174127 0.991083 0.9848154 NA 0.01310275 NA FALSE NA 0 -3.153 rs720173 intron_variant MODIFIER KNOP1 HGNC 34404 ENST00000568230 3/3 rs720173 1 T:0.1841 T:0.1203 T:0.111 NA T:0.2133 T:0.16 T:0.317 T:0.1039 T:0.1757 TCG C,T 0.175 16:19710484 KNOP1 HGNC Symbol protein_coding 16301 ENSG00000103550 ENSE00000676004 non_coding_transcript_exon_variant -0.220422 0.0713 0.00763 0.101703 0.8376592 0.0971239 3.166824e-05 FALSE 0.173485 ENSE00000676004_003 ENSE00000676004 003 16 19721790 19721959 - 41 78 51 G A 19721812 1188 148 GAGCGTGCCACCTCCTCGCAGAACCCTAGCCCCAAACTTACCGTCCACTTCCTGGTTTCAGAAGCTTCCGTTTTGCCTGACTCGCGATCGATCTCTTCTTGCAAGGCCTTTCGCCTCACCTGAGCAAGAAGGATGACAGAAGAGGGCCGTCAGACAGAGATCTTCTTTCA 19710467 19710637 19710489 19710490 19710490 downstr_intron 19 1.475 TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGTTCTGCGAGGAGGTGGCACGCTC TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC mutant NA NA NA NA NA 82 137 1 1 1 0.9886455 0.9935204 0.970189 0.9994417 NA NA 0.02981096 0.0005582971 0.991083 0.9848154 NA 0.01518463 NA FALSE NA 0.005 2.493 . intron_variant MODIFIER KNOP1 HGNC 34404 ENST00000568230 3/3 1 NA AGC G,A 4.127e-05 16:19710490 KNOP1 HGNC Symbol protein_coding 16301 ENSG00000103550 ENSE00000676004 non_coding_transcript_exon_variant 0.502899 0.31369 0.24657 0.115753 0.9197321 0.600595 3.166824e-05 FALSE 2.84312e-05 ENSE00000676004_004 ENSE00000676004 004 16 19721790 19721959 - 41 78 51 G A 19721818 1189 142 GAGCGTGCCACCTCCTCGCAGAGCCCTAACCCCAAACTTACCGTCCACTTCCTGGTTTCAGAAGCTTCCGTTTTGCCTGACTCGCGATCGATCTCTTCTTGCAAGGCCTTTCGCCTCACCTGAGCAAGAAGGATGACAGAAGAGGGCCGTCAGACAGAGATCTTCTTTCA 19710467 19710637 19710495 19710496 19710496 downstr_intron 13 1.325 TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGTTAGGGCTCTGCGAGGAGGTGGCACGCTC TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC mutant NA NA NA NA NA 321 30 1 1 1 0.9886455 0.9935204 0.970189 0.9994417 NA NA 0.02981096 0.0005582971 0.991083 0.9848154 NA 0.01518463 NA FALSE NA 0 -0.239 . intron_variant MODIFIER KNOP1 HGNC 34404 ENST00000568230 3/3 1 NA AGC G,A 8.254e-06 16:19710496 KNOP1 HGNC Symbol protein_coding 16301 ENSG00000103550 ENSE00000676004 non_coding_transcript_exon_variant 0.326157 0.17837 0.07196 0.115753 0.7640274 0.0971239 3.166824e-05 FALSE 8.12282e-06 ENSE00000676004_015 ENSE00000676004 015 16 19721790 19721959 - 41 78 51 G A 19721868 1200 92 GAGCGTGCCACCTCCTCGCAGAGCCCTAGCCCCAAACTTACCGTCCACTTCCTGGTTTCAGAAGCTTCCGTTTTGCCTAACTCGCGATCGATCTCTTCTTGCAAGGCCTTTCGCCTCACCTGAGCAAGAAGGATGACAGAAGAGGGCCGTCAGACAGAGATCTTCTTTCA 19710467 19710637 19710545 19710546 19710546 exon -38 0.525641 TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTTAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC mutant 15 14 0.85 0.85 0.85 NA NA NA NA NA 0.9886455 0.9935204 0.970189 0.9994417 -0.1386455 -0.1435204 NA NA 0.991083 0.9848154 -0.141083 NA NA NA FALSE 1 5.579 . missense_variant MODERATE KNOP1 HGNC 34404 ENST00000568230 3/4 1 deleterious(0) probably_damaging(0.998) NA TGA G,A 2.477e-05 16:19710546 KNOP1 HGNC Symbol protein_coding 16301 ENSG00000103550 ENSE00000676004 missense_variant 6.245888 0.93117 0.91274 0.730579 0.9989414 0 3.166824e-05 FALSE 1.21838e-05 ENSE00000676004_027 ENSE00000676004 027 16 19721790 19721959 - 41 78 51 A G 19721918 1212 42 GAGCGTGCCACCTCCTCGCAGAGCCCTAGCCCCAAACTTACCGTCCACTTCCTGGTTTCAGAAGCTTCCGTTTTGCCTGACTCGCGATCGATCTCTTCTTGCAAGGCCTTTCGCCTCACCTGAGCAAGGAGGATGACAGAAGAGGGCCGTCAGACAGAGATCTTCTTTCA 19710467 19710637 19710595 19710596 19710596 upstr_intron -10 -0.1764706 TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTCCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC mutant NA NA NA NA NA 151 55 1 1 1 0.9886455 0.9935204 0.970189 0.9994417 NA NA 0.02981096 0.0005582971 0.991083 0.9848154 NA 0.01518463 NA FALSE NA 0 -0.697 . intron_variant MODIFIER KNOP1 HGNC 34404 ENST00000568230 2/3 1 NA GAA A,G 8.268e-06 16:19710596 KNOP1 HGNC Symbol protein_coding 16301 ENSG00000103550 ENSE00000676004 intron_variant -0.304669 0.11971 0.01486 0.108992 0.2792851 0.0730184 3.166824e-05 FALSE 4.06355e-06 ENSE00000676004_028 ENSE00000676004 028 16 19721790 19721959 - 41 78 51 A G 19721922 1213 38 GAGCGTGCCACCTCCTCGCAGAGCCCTAGCCCCAAACTTACCGTCCACTTCCTGGTTTCAGAAGCTTCCGTTTTGCCTGACTCGCGATCGATCTCTTCTTGCAAGGCCTTTCGCCTCACCTGAGCAAGAAGGGTGACAGAAGAGGGCCGTCAGACAGAGATCTTCTTTCA 19710467 19710637 19710599 19710600 19710600 upstr_intron -14 -0.254902 TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCACCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC mutant NA NA NA NA NA 250 1231 1 0.9992234 0.9996117 0.9886455 0.9935204 0.970189 0.9994417 NA NA 0.02981096 -0.0002183513 0.991083 0.9848154 NA 0.0147963 NA FALSE NA 0.034 2.698 . intron_variant MODIFIER KNOP1 HGNC 34404 ENST00000568230 2/3 1 NA GAT A,G 8.268e-06 16:19710600 KNOP1 HGNC Symbol protein_coding 16301 ENSG00000103550 ENSE00000676004 intron_variant 0.240459 0.16624 0.09238 0.108992 0.2778356 0.0724369 3.166824e-05 FALSE 4.06395e-06 ENSE00000677429_002 ENSE00000677429 002 8 1846555 1846724 + 44 93 33 G T 1846574 2 20 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCAACTCCCTGCAGGGCTGCCAT 1898388 1898558 1898407 1898408 1898408 upstr_intron -25 -0.5454545 ATGGCAGCCCTGCAGGGAGTTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 275 263 0.9955665 0.9957671 0.9956668 NA NA 0.9955912 1 NA NA -2.468267e-05 -0.004232932 NA 0.9977956 NA -0.002128807 NA FALSE NA 0.002 1.175 . intron_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 6/14 1 NA GGT G,T 1.647e-05 8:1898408 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 intron_variant -0.159482 0.14789 0.0349 0.062308 0.8761378 0.0616008 1.108047e-13 FALSE NA ENSE00000677429_007 ENSE00000677429 007 8 1846555 1846724 + 44 93 33 G T 1846583 7 29 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCAACGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898416 1898417 1898417 upstr_intron -16 -0.3409091 ATGGCAGCCCTGCAGGGAGGTGACCCCGTTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 253 157 0.8930435 0.7368821 0.8149628 NA NA 0.9955912 1 NA NA -0.1025477 -0.2631179 NA 0.9977956 NA -0.1828328 NA FALSE NA 0 -1.307 . intron_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 6/14 rs567092022 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GGT G,T 8.237e-06 8:1898417 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 intron_variant -0.391674 0.16435 0.01779 0.062308 0.5179077 0.0591355 1.108047e-13 FALSE 4.07621e-06 ENSE00000677429_010 ENSE00000677429 010 8 1846555 1846724 + 44 93 33 C A 1846594 10 40 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTTGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898427 1898428 1898428 upstr_intron -5 -0.09090909 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCAACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 25 63 0.8673356 1 0.9336678 NA NA 0.9955912 1 NA NA -0.1282556 0 NA 0.9977956 NA -0.06412779 NA FALSE NA 0 0.346 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ARHGEF10 HGNC 14103 ENST00000523711 6/14 1 NA CCA C,A 1.647e-05 8:1898428 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 splice_region_variant 0.128393 0.16557 0.24524 0.099367 0.49101 0.0602152 1.108047e-13 FALSE 4.06918e-06 ENSE00000677429_012 ENSE00000677429 012 8 1846555 1846724 + 44 93 33 A G 1846604 12 50 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGCTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898437 1898438 1898438 exon 6 0.06451613 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAGCAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 1419 201 0.9981273 0.8795939 0.9388606 NA NA 0.9955912 1 NA NA 0.002536127 -0.1204061 NA 0.9977956 NA -0.05893497 NA FALSE NA 0.975 0.133 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 7/15 1 NA AAC A,G 8.237e-06 8:1898438 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 splice_region_variant -0.212653 0.96904 0.68959 0.706548 0.3368874 0 1.108047e-13 FALSE 8.13074e-06 ENSE00000677429_013 ENSE00000677429 013 8 1846555 1846724 + 44 93 33 C A 1846612 13 58 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGTCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898445 1898446 1898446 exon 14 0.1505376 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGACAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 25 619 1 1 1 NA NA 0.9955912 1 NA NA 0.004408803 0 NA 0.9977956 NA 0.002204401 NA FALSE NA 0.023 1.647 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 7/15 1 NA GCC C,A 8.236e-06 8:1898446 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 missense_variant 3.160206 0.86409 0.39628 0.706548 0.9540429 0 1.108047e-13 FALSE 4.06326e-06 ENSE00000677429_025 ENSE00000677429 025 8 1846555 1846724 + 44 93 33 A G 1846644 25 90 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCACCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898477 1898478 1898478 exon 46 0.4946237 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGGTGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 1106 40 0.9440305 1 0.9720153 NA NA 0.9955912 1 NA NA -0.05156068 0 NA 0.9977956 NA -0.02578034 NA FALSE NA 1 8.486 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 7/15 1 NA GAT A,G 8.236e-06 8:1898478 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 missense_variant 3.444013 0.98382 0.9801 0.706548 0.9820886 0 1.108047e-13 FALSE 4.06121e-06 ENSE00000677429_026 ENSE00000677429 026 8 1846555 1846724 + 44 93 33 A G 1846647 26 93 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCACCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898480 1898481 1898481 exon -45 0.5268817 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGGTGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 630 45 1 1 1 NA NA 0.9955912 1 NA NA 0.004408803 0 NA 0.9977956 NA 0.002204401 NA FALSE NA 1 4.586 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 7/15 rs377263906 1 NA T:0 T:0.0001 GAT A,G 8.236e-06 8:1898481 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 missense_variant -0.537915 0.98323 0.94154 0.706548 0.3189901 0 1.108047e-13 FALSE 4.06131e-06 ENSE00000677429_027 ENSE00000677429 027 8 1846555 1846724 + 44 93 33 G T 1846649 27 95 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTAATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898482 1898483 1898483 exon -43 0.5483871 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATTAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 11 28 0.9220636 0.9801269 0.9510952 NA NA 0.9955912 1 NA NA -0.07352756 -0.01987314 NA 0.9977956 NA -0.04670035 NA FALSE NA 1 4.965 rs150004545 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 7/15 rs150004545 1 NA T:0 T:0.0001 TGA G,T 5.765e-05 8:1898483 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 missense_variant 2.708781 0.98778 0.96611 0.706548 0.9871089 0 1.108047e-13 FALSE 0.000109657 ENSE00000677429_028 ENSE00000677429 028 8 1846555 1846724 + 44 93 33 G C 1846664 28 110 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAAGCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898497 1898498 1898498 exon -28 0.7096774 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGCTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 72 37 1 1 1 NA NA 0.9955912 1 NA NA 0.004408803 0 NA 0.9977956 NA 0.002204401 NA FALSE NA 0.988 0.231 rs144304948 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 7/15 rs144304948 1 NA C:0.0005 C:0 GGT G,C 3.295e-05 8:1898498 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 missense_variant 5.048437 0.85753 0.59188 0.706548 0.9952259 0 1.108047e-13 FALSE 1.21839e-05 ENSE00000677429_029 ENSE00000677429 029 8 1846555 1846724 + 44 93 33 A T 1846672 29 118 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACAGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898505 1898506 1898506 exon -20 0.7956989 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACTGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 14 590 1 0.9762064 0.9881032 NA NA 0.9955912 1 NA NA 0.004408803 -0.02379358 NA 0.9977956 NA -0.009692389 NA FALSE NA 1 8.486 rs148715187 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 7/15 rs148715187 1 T:0.0020 T:0.0076 T:0 NA T:0 T:0 T:0 T:0.0054 T:0 CAG A,T 0.0006095 8:1898506 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 missense_variant 6.299776 0.98994 0.98547 0.706548 0.9954904 0 1.108047e-13 FALSE 0.000450824 ENSE00000677429_033 ENSE00000677429 033 8 1846555 1846724 + 44 93 33 G T 1846698 33 144 ACTAGCTTGAGGAGGTCTCCGTGAAGAACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898531 1898532 1898532 downstr_intron 7 1.21875 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTTCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 117 59 0.9684251 1 0.9842126 NA NA 0.9955912 1 NA NA -0.02716609 0 NA 0.9977956 NA -0.01358304 NA FALSE NA 0.025 -0.077 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ARHGEF10 HGNC 14103 ENST00000523711 7/14 1 NA TGC G,T 8.236e-06 8:1898532 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 splice_region_variant -0.005998 0.23052 0.00725 0.069865 0.5337082 0.148754 1.108047e-13 FALSE 4.06428e-06 ENSE00000677429_035 ENSE00000677429 035 8 1846555 1846724 + 44 93 33 G A 1846705 35 151 ACTAGCTTGAGGAGGTCTCTGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898538 1898539 1898539 downstr_intron 14 1.4375 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACAGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 55 49 1 1 1 NA NA 0.9955912 1 NA NA 0.004408803 0 NA 0.9977956 NA 0.002204401 NA FALSE NA 0 -0.405 . intron_variant&non_coding_transcript_variant MODIFIER ARHGEF10 HGNC 14103 ENST00000523711 7/14 rs371657213 1 NA A:0.0002 A:0 CGG G,A 8.237e-06 8:1898539 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 intron_variant -0.541434 0.14443 0.00346 0.069865 0.2980165 0.0625481 1.108047e-13 FALSE 2.03412e-05 ENSE00000678432_001 ENSE00000678432 001 17 5352093 5352262 - 36 87 47 A G 5352106 545 157 CTTTGTCACCCACGGAACACTAGGACCAGACGATACCTTTAAGCAGATGTCCCTCAGCTGTGCTCTGACTTCTGCTACCAGCGTCATATTCTTGCTGTTGACAAAATTCTCTTTGCACCAATCCTGAATAGGAGAAAGAGTGATATCACAATCCACTCATTCACCATTTA 5448772 5448942 5448785 5448786 5448786 downstr_intron 23 1.657143 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCCGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 215 409 1 1 1 0.9939411 0.9965645 0.9667187 0.8190558 NA NA 0.0332813 0.1809442 0.9952528 0.8928872 NA 0.1071128 NA FALSE NA 0.009 0.427 . intron_variant MODIFIER DHX33 HGNC 16718 ENST00000572490 10/10 1 NA CAG A,G 1.647e-05 17:5448786 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 5_prime_UTR_variant 0.336362 0.1405 0.03855 0.295142 0.6722722 0.0807427 0.008382278 FALSE 9.16531e-06 ENSE00000678432_003 ENSE00000678432 003 17 5352093 5352262 - 36 87 47 C T 5352123 547 140 CTTTGTCACCCACAGAACACTAGGACCAGATGATACCTTTAAGCAGATGTCCCTCAGCTGTGCTCTGACTTCTGCTACCAGCGTCATATTCTTGCTGTTGACAAAATTCTCTTTGCACCAATCCTGAATAGGAGAAAGAGTGATATCACAATCCACTCATTCACCATTTA 5448772 5448942 5448802 5448803 5448803 downstr_intron 6 1.171429 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCATCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 37 425 1 0.9930861 0.9965431 0.9939411 0.9965645 0.9667187 0.8190558 NA NA 0.0332813 0.1740303 0.9952528 0.8928872 NA 0.1036558 NA FALSE NA 0 -0.157 . splice_region_variant&intron_variant LOW DHX33 HGNC 16718 ENST00000572490 10/10 1 NA ACG C,T 2.471e-05 17:5448803 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 splice_region_variant 0.149794 0.14603 0.00683 0.295142 0.471055 0.126515 0.008382278 FALSE 1.28635e-05 ENSE00000678432_006 ENSE00000678432 006 17 5352093 5352262 - 36 87 47 A G 5352125 550 138 CTTTGTCACCCACAGAACACTAGGACCAGACGGTACCTTTAAGCAGATGTCCCTCAGCTGTGCTCTGACTTCTGCTACCAGCGTCATATTCTTGCTGTTGACAAAATTCTCTTTGCACCAATCCTGAATAGGAGAAAGAGTGATATCACAATCCACTCATTCACCATTTA 5448772 5448942 5448804 5448805 5448805 downstr_intron 4 1.114286 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTACCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 1805 489 0.9655042 0.95246 0.9589821 0.9939411 0.9965645 0.9667187 0.8190558 NA NA -0.001214522 0.1334042 0.9952528 0.8928872 NA 0.06609485 NA FALSE NA 0.094 -0.074 . splice_region_variant&intron_variant LOW DHX33 HGNC 16718 ENST00000572490 10/10 1 NA GAT A,G 3.295e-05 17:5448805 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 splice_region_variant 0.131644 0.22637 0.03424 0.295142 0.711635 0.285074 0.008382278 FALSE 2.99475e-05 ENSE00000678432_010 ENSE00000678432 010 17 5352093 5352262 - 36 87 47 G A 5352141 554 122 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGATATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 5448820 5448821 5448821 exon -13 0.862069 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGATATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 12 174 0.95 1 0.975 0.9939411 0.9965645 0.9667187 0.8190558 NA NA -0.0167187 0.1809442 0.9952528 0.8928872 NA 0.08211277 NA FALSE NA 0.166 -0.968 . synonymous_variant LOW DHX33 HGNC 16718 ENST00000572490 10/11 rs375734203 1 NA A:0.0002 A:0 TGT G,A 8.236e-06 17:5448821 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 synonymous_variant 0.995972 0.95268 0.25928 0.706548 0.7644329 0 0.008382278 FALSE 4.11756e-06 ENSE00000678432_011 ENSE00000678432 011 17 5352093 5352262 - 36 87 47 T C 5352142 555 121 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGGCATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG 5448772 5448942 5448821 5448822 5448822 exon -14 0.8505747 TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGGCATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG TAAATGGTGAATGAGTGGATTGTGATATCACTCTTTCTCCTATTCAGGATTGGTGCAAAGAGAATTTTGTCAACAGCAAGAATATGACGCTGGTAGCAGAAGTCAGAGCACAGCTGAGGGACATCTGCTTAAAGGTATCGTCTGGTCCTAGTGTTCTGTGGGTGACAAAG mutant NA NA NA NA NA 53 536 1 0.9891557 0.9945779 0.9939411 0.9965645 0.9667187 0.8190558 NA NA 0.0332813 0.1701 0.9952528 0.8928872 NA 0.1016906 NA FALSE NA 1 7.329 . missense_variant MODERATE DHX33 HGNC 16718 ENST00000572490 10/11 1 tolerated(1) benign(0.104) NA GTC T,C 8.236e-06 17:5448822 DHX33 HGNC Symbol protein_coding 28148 ENSG00000005100 ENSE00003527641 missense_variant 1.671536 0.99245 0.99434 0.706548 0.9401702 0 0.008382278 FALSE 4.11015e-06 ENSE00000683971_001 ENSE00000683971 001 16 53513012 53513181 + 54 72 44 G T 53513024 1651 13 CACTATTATGGTTGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479111 53479112 53479112 upstr_intron -42 -0.7592593 CACTATTATGGTTGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 633 1253 1 0.9993465 0.9996733 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.04539676 0.0490502 0.9845746 0.9524498 NA 0.04722348 NA FALSE NA 0 -0.992 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA TGG G,T 8.236e-06 16:53479112 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant -0.224586 0.10248 0.03262 0.156188 0.3544219 0.0481801 0.957797 TRUE NA ENSE00000683971_002 ENSE00000683971 002 16 53513012 53513181 + 54 72 44 C T 53513033 1652 22 CACTATTATGGTGGTAGTTGCTATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479120 53479121 53479121 upstr_intron -33 -0.5925926 CACTATTATGGTGGTAGTTGCTATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 480 510 0.8079228 0.9977977 0.9028603 0.9895624 0.9795867 0.9546032 0.9502963 NA NA -0.1466804 0.04750134 0.9845746 0.9524498 NA -0.04958953 NA FALSE NA 0 -0.089 rs8043918 intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs8043918 1 T:0.4527 T:0.6657 T:0.3847 NA T:0.1786 T:0.4612 T:0.4867 T:0.6249 T:0.4831 CCA T,T 0.437 16:53479121 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant 0.244126 0.10832 0.00091 0.156188 0.2569036 0.0841549 0.957797 TRUE 0.426891 ENSE00000683971_003 ENSE00000683971 003 16 53513012 53513181 + 54 72 44 A G 53513034 1653 23 CACTATTATGGTGGTAGTTGCCGTGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479121 53479122 53479122 upstr_intron -32 -0.5740741 CACTATTATGGTGGTAGTTGCCGTGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 23 41 0.85 0.85 0.85 697 929 0.9107815 0.9467191 0.9287503 0.9895624 0.9795867 0.9546032 0.9502963 -0.1395624 -0.1295867 -0.04382174 -0.003577286 0.9845746 0.9524498 -0.1345746 -0.02369951 0.110875 FALSE FALSE 0 -0.804 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA CAT A,G 1.647e-05 16:53479122 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant -0.835121 0.10671 0.01742 0.156188 0.2726306 0.0877649 0.957797 TRUE 8.15215e-06 ENSE00000683971_004 ENSE00000683971 004 16 53513012 53513181 + 54 72 44 T C 53513035 1654 24 GACTTTAAGCTTTATTTTTCAGCCCATAGAGAAAATGTAGTTACCTGGCTCCGGGCCTGCGGCTGAGTCCTATAACAACGCATAATGTTCTGGAAGGACTTATCTTCTTTTGTGACCTGGCAAACAATAAGAGTGCTCTGAGAGACGTGGCAACTACCACCATAATAGTG 53479099 53479269 53479122 53479123 53479123 upstr_intron -31 -0.5555556 CACTATTATGGTGGTAGTTGCCACGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 1203 457 0.9412576 0.9710081 0.9561328 0.9895624 0.9795867 0.9546032 0.9502963 NA NA -0.01334568 0.02071171 0.9845746 0.9524498 NA 0.003683015 NA FALSE NA 0 -0.363 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA ATG T,C 8.236e-06 16:53479123 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant -0.10505 0.1587 0.06884 0.156188 0.3473022 0.0866448 0.957797 TRUE 4.07554e-06 ENSE00000683971_005 ENSE00000683971 005 16 53513012 53513181 + 54 72 44 T C 53513055 1655 44 GACTTTAAGCTTTATTTTTCAGCCCATAGAGAAAATGTAGTTACCTGGCTCCGGGCCTGCGGCTGAGTCCTATAACAACGCATAATGTTCTGGAAGGACTTATCTTCTTTTGTGACCTGGCAAACAGTAAGAGTGCTCTGAGAGACATGGCAACTACCACCATAATAGTG 53479099 53479269 53479142 53479143 53479143 upstr_intron -11 -0.1851852 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTACTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 837 1161 0.8009346 0.8004355 0.800685 0.9895624 0.9795867 0.9546032 0.9502963 NA NA -0.1536687 -0.1498608 0.9845746 0.9524498 NA -0.1517648 NA FALSE NA 0.029 0.574 rs8049033 intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs8049033 1 C:0.4369 C:0.6104 C:0.379 NA C:0.1786 C:0.4602 C:0.4857 C:0.5689 C:0.4829 ATT T,C 0.432 16:53479143 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant 0.736879 0.20232 0.04871 0.295142 0.7440737 0.0942345 0.957797 TRUE 0.423043 ENSE00000683971_006 ENSE00000683971 006 16 53513012 53513181 + 54 72 44 T C 53513060 1656 49 GACTTTAAGCTTTATTTTTCAGCCCATAGAGAAAATGTAGTTACCTGGCTCCGGGCCTGCGGCTGAGTCCTATAACAACGCATAATGTTCTGGAAGGACTTATCTTCTTTTGTGACCTGGCGAACAATAAGAGTGCTCTGAGAGACATGGCAACTACCACCATAATAGTG 53479099 53479269 53479147 53479148 53479148 upstr_intron -6 -0.09259259 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTCGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 1118 2143 0.9806589 0.9279908 0.9543248 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.02605565 -0.02230555 0.9845746 0.9524498 NA 0.00187505 NA FALSE NA 0.966 3.834 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA TTG T,C 8.237e-06 16:53479148 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 splice_region_variant 1.195287 0.50368 0.89953 0.295142 0.924354 0.766865 0.957797 TRUE 4.07e-06 ENSE00000683971_007 ENSE00000683971 007 16 53513012 53513181 + 54 72 44 A T 53513069 1657 58 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCTCAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479156 53479157 53479157 exon 4 0.05555556 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCTCAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 2409 170 0.9737479 0.9920073 0.9828776 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.01914463 0.04171095 0.9845746 0.9524498 NA 0.03042779 NA FALSE NA 1 8.31 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA CAC A,T 8.237e-06 16:53479157 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 3.994053 0.98921 0.99277 0.706548 0.9902706 0 0.957797 TRUE 4.06971e-06 ENSE00000683971_008 ENSE00000683971 008 16 53513012 53513181 + 54 72 44 A G 53513091 1658 80 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCGGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479178 53479179 53479179 exon 26 0.3611111 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCGGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 1726 958 0.9974822 0.9997951 0.9986386 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.04287896 0.04949875 0.9845746 0.9524498 NA 0.04618885 NA FALSE NA 1 8.31 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA CAG A,G 8.237e-06 16:53479179 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 4.039965 0.98915 0.99265 0.706298 0.9983629 0 0.957797 TRUE 8.14001e-06 ENSE00000683971_009 ENSE00000683971 009 16 53513012 53513181 + 54 72 44 A G 53513096 1659 85 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACGTTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479183 53479184 53479184 exon 31 0.4305556 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACGTTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 271 60 0.9992382 1 0.9996191 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.04463499 0.04970365 0.9845746 0.9524498 NA 0.04716932 NA FALSE NA 1 8.31 rs149956581 intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs149956581 1 NA G:0 G:0.0005 CAT A,G 4.118e-05 16:53479184 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 5.474752 0.98915 0.99265 0.706298 0.9991966 0 0.957797 TRUE 3.66306e-05 ENSE00000683971_010 ENSE00000683971 010 16 53513012 53513181 + 54 72 44 G A 53513103 1660 92 GACTTTAAGCTTTATTTTTCAGCCCATAGAGAAAATGTAGTTACCTGGCTCCGGGCCTGCGGCTGAGTCCTATAACAATGCATAATGTTCTGGAAGGACTTATCTTCTTTTGTGACCTGGCAAACAATAAGAGTGCTCTGAGAGACATGGCAACTACCACCATAATAGTG 53479099 53479269 53479190 53479191 53479191 exon -35 0.5277778 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCATTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 65 177 0.85 0.85 0.85 1274 24 0.9555651 0.972689 0.964127 0.9895624 0.9795867 0.9546032 0.9502963 -0.1395624 -0.1295867 0.0009618232 0.02239262 0.9845746 0.9524498 -0.1345746 0.01167722 0.1462518 FALSE FALSE 1 6.74 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs376408962 1 NA A:0 A:0.0001 CGT G,A 1.647e-05 16:53479191 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 5.777294 0.98182 0.95476 0.706298 0.9995075 0 0.957797 TRUE 8.14213e-06 ENSE00000683971_011 ENSE00000683971 011 16 53513012 53513181 + 54 72 44 T C 53513105 1661 94 GACTTTAAGCTTTATTTTTCAGCCCATAGAGAAAATGTAGTTACCTGGCTCCGGGCCTGCGGCTGAGTCCTATAACGACGCATAATGTTCTGGAAGGACTTATCTTCTTTTGTGACCTGGCAAACAATAAGAGTGCTCTGAGAGACATGGCAACTACCACCATAATAGTG 53479099 53479269 53479192 53479193 53479193 exon -33 0.5555556 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTCGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 11 49 0.9473798 0.9843568 0.9658683 353 1170 0.9877447 0.9948574 0.9913011 0.9895624 0.9795867 0.9546032 0.9502963 -0.04218262 0.004770064 0.03314149 0.04456102 0.9845746 0.9524498 -0.01870628 0.03885126 0.05755754 FALSE FALSE 1 7.124 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA TTG T,C 8.237e-06 16:53479193 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 5.866241 0.98839 0.98746 0.706298 0.9975505 0 0.957797 TRUE 4.0708e-06 ENSE00000683971_012 ENSE00000683971 012 16 53513012 53513181 + 54 72 44 G A 53513106 1662 95 GACTTTAAGCTTTATTTTTCAGCCCATAGAGAAAATGTAGTTACCTGGCTCCGGGCCTGCGGCTGAGTCCTATAATAACGCATAATGTTCTGGAAGGACTTATCTTCTTTTGTGACCTGGCAAACAATAAGAGTGCTCTGAGAGACATGGCAACTACCACCATAATAGTG 53479099 53479269 53479193 53479194 53479194 exon -32 0.5694444 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTATTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 26 71 0.85 0.85 0.85 581 623 0.9501045 0.9493555 0.94973 0.9895624 0.9795867 0.9546032 0.9502963 -0.1395624 -0.1295867 -0.004498718 -0.0009408831 0.9845746 0.9524498 -0.1345746 -0.0027198 0.1318548 FALSE FALSE 1 6.898 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA TGT G,A 8.237e-06 16:53479194 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 6.18382 0.98463 0.98449 0.706298 0.9975124 0 0.957797 TRUE 1.22139e-05 ENSE00000683971_013 ENSE00000683971 013 16 53513012 53513181 + 54 72 44 T C 53513110 1663 99 GACTTTAAGCTTTATTTTTCAGCCCATAGAGAAAATGTAGTTACCTGGCTCCGGGCCTGCGGCTGAGTCCTGTAACAACGCATAATGTTCTGGAAGGACTTATCTTCTTTTGTGACCTGGCAAACAATAAGAGTGCTCTGAGAGACATGGCAACTACCACCATAATAGTG 53479099 53479269 53479197 53479198 53479198 exon -28 0.625 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTACAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 1004 808 0.9859695 0.9947207 0.9903451 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.03136626 0.04442433 0.9845746 0.9524498 NA 0.0378953 NA FALSE NA 0.22 -0.487 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs370750929 1 NA C:0 C:0.0001 ATA T,C 6.589e-05 16:53479198 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 synonymous_variant -0.015491 0.93986 0.11132 0.706298 0.3584985 0 0.957797 TRUE 5.69944e-05 ENSE00000683971_014 ENSE00000683971 014 16 53513012 53513181 + 54 72 44 C T 53513121 1664 110 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCTGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479208 53479209 53479209 exon -17 0.7777778 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCTGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 744 312 0.9964052 0.9920606 0.9942329 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.04180198 0.04176425 0.9845746 0.9524498 NA 0.04178312 NA FALSE NA 1 5.193 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs201307142 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 1.647e-05 16:53479209 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 7.755149 0.98808 0.98393 0.706298 0.9990054 0 0.957797 TRUE 8.14598e-06 ENSE00000683971_015 ENSE00000683971 015 16 53513012 53513181 + 54 72 44 A G 53513124 1665 113 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCGGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479211 53479212 53479212 exon -14 0.8194444 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCGGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 11 20 1 0.9973263 0.9986632 365 1083 0.9946553 0.9999649 0.9973101 0.9895624 0.9795867 0.9546032 0.9502963 0.01043759 0.0177396 0.04005202 0.04966851 0.9845746 0.9524498 0.0140886 0.04486026 0.03077166 FALSE FALSE 1 8.31 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA CAG A,G 8.237e-06 16:53479212 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 6.131112 0.99234 0.9945 0.706298 0.9986803 0 0.957797 TRUE 4.07382e-06 ENSE00000683971_016 ENSE00000683971 016 16 53513012 53513181 + 54 72 44 C T 53513129 1666 118 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCTGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479216 53479217 53479217 exon -9 0.8888889 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCTGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 644 452 0.9625988 0.9870742 0.9748365 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.007995515 0.03677782 0.9845746 0.9524498 NA 0.02238667 NA FALSE NA 1 1.944 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs373573938 1 NA T:0 T:0.0001 CCG C,T 2.471e-05 16:53479217 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 7.535808 0.96606 0.89662 0.706298 0.9991387 0 0.957797 TRUE 2.03754e-05 ENSE00000683971_017 ENSE00000683971 017 16 53513012 53513181 + 54 72 44 G A 53513130 1667 119 GACTTTAAGCTTTATTTTTCAGCCCATAGAGAAAATGTAGTTACCTGGCTCTGGGCCTGCGGCTGAGTCCTATAACAACGCATAATGTTCTGGAAGGACTTATCTTCTTTTGTGACCTGGCAAACAATAAGAGTGCTCTGAGAGACATGGCAACTACCACCATAATAGTG 53479099 53479269 53479217 53479218 53479218 exon -8 0.9027778 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCAGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 126 209 0.85 0.85 0.85 381 3296 0.6507733 0.5630344 0.6069039 0.9895624 0.9795867 0.9546032 0.9502963 -0.1395624 -0.1295867 -0.3038299 -0.3872619 0.9845746 0.9524498 -0.1345746 -0.3455459 0.2109714 FALSE FALSE 1 2.228 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 COSM1709175 1 NA CGG G,A 8.237e-06 16:53479218 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 missense_variant 3.846037 0.96667 0.89468 0.706298 0.9972879 0 0.957797 TRUE 2.03781e-05 ENSE00000683971_018 ENSE00000683971 018 16 53513012 53513181 + 54 72 44 C T 53513134 1668 123 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGTCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479221 53479222 53479222 exon -4 0.9583333 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGTCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 3087 901 0.9853128 0.8950531 0.940183 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.03070959 -0.05524326 0.9845746 0.9524498 NA -0.01226684 NA FALSE NA 0.999 0.477 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA GCC C,T 8.236e-06 16:53479222 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 synonymous_variant 2.036844 0.9748 0.88031 0.706298 0.7110574 0 0.957797 TRUE NA ENSE00000683971_019 ENSE00000683971 019 16 53513012 53513181 + 54 72 44 A G 53513140 1669 129 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTGACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479227 53479228 53479228 downstr_intron 3 1.069767 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTGACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 210 88 0 0 0 553 912 0 0.0175834 0.008791701 0.9895624 0.9795867 0.9546032 0.9502963 -0.9895624 -0.9795867 -0.9546032 -0.9327129 0.9845746 0.9524498 -0.9845746 -0.9436581 0.04091647 TRUE TRUE 1 3.628 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA TAA A,G 8.236e-06 16:53479228 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 splice_region_variant 1.927999 0.97019 0.93134 0.099367 0.9406276 0.616013 0.957797 TRUE 4.07914e-06 ENSE00000683971_020 ENSE00000683971 020 16 53513012 53513181 + 54 72 44 A G 53513146 1670 135 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACGTTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479233 53479234 53479234 downstr_intron 9 1.209302 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACGTTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 38 96 0.980258 0.9734381 0.976848 667 203 0.9898098 0.9998123 0.9948111 0.9895624 0.9795867 0.9546032 0.9502963 -0.00930439 -0.006148641 0.03520656 0.04951596 0.9845746 0.9524498 -0.007726516 0.04236126 0.05008778 FALSE FALSE 0.043 1.466 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA CAT A,G 8.237e-06 16:53479234 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant 1.327334 0.20453 0.12331 0.099367 0.7835704 0.221907 0.957797 TRUE 4.0827e-06 ENSE00000683971_021 ENSE00000683971 021 16 53513012 53513181 + 54 72 44 C T 53513153 1671 142 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTTTATGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479240 53479241 53479241 downstr_intron 16 1.372093 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTTTATGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 762 405 1 0.999906 0.999953 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.04539676 0.04960963 0.9845746 0.9524498 NA 0.0475032 NA FALSE NA 0 -0.962 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs200722939 1 T:0.0006 T:0.0008 T:0 NA T:0.002 T:0 T:0 T:0.0002 T:0 TCT C,T 0.0001071 16:53479241 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant -0.010189 0.19603 0.02526 0.099367 0.7435938 0.125832 0.957797 TRUE 6.54108e-05 ENSE00000683971_022 ENSE00000683971 022 16 53513012 53513181 + 54 72 44 A G 53513155 1672 144 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTGTGGGCTGAAAAATAAAGCTTAAAGTC 53479099 53479269 53479242 53479243 53479243 downstr_intron 18 1.418605 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTGTGGGCTGAAAAATAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 317 1325 0.9843427 0.9840426 0.9841927 0.9895624 0.9795867 0.9546032 0.9502963 NA NA 0.02973946 0.03374629 0.9845746 0.9524498 NA 0.03174287 NA FALSE NA 0.001 -0.548 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 rs547466334 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 TAT A,G 8.237e-06 16:53479243 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant -0.070642 0.15053 0.07524 0.099367 0.3341184 0.118218 0.957797 TRUE 1.22706e-05 ENSE00000683971_026 ENSE00000683971 026 16 53513012 53513181 + 54 72 44 A G 53513169 1676 158 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATGAAGCTTAAAGTC 53479099 53479269 53479256 53479257 53479257 downstr_intron 32 1.744186 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATGAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant 40 79 0.9577041 0.9638943 0.9607992 NA NA NA NA NA 0.9895624 0.9795867 0.9546032 0.9502963 -0.03185835 -0.01569246 NA NA 0.9845746 0.9524498 -0.02377541 NA NA NA FALSE 0 0.237 . intron_variant MODIFIER RBL2 HGNC 9894 ENST00000544545 11/12 1 NA TAA A,G 8.237e-06 16:53479257 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant 0.695755 0.94751 0.26176 0.099367 0.5955749 0.154316 0.957797 TRUE NA ENSE00000686544_007 ENSE00000686544 007 19 16552668 16552837 - 35 90 45 A G 16552715 1461 123 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATCATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441903 16441904 16441904 exon -13 0.8666667 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATCATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant 14 20 0.9986612 0.9991131 0.9988871 NA NA NA NA NA 0.999615 0.9969894 0.8855953 0.9168093 -0.0009538628 0.002123769 NA NA 0.9983022 0.9012023 0.000584953 NA NA NA FALSE 0.993 0.603 . synonymous_variant&NMD_transcript_variant LOW EPS15L1 HGNC 24634 ENST00000596037 3/8 1 NA TAA A,G 8.236e-06 19:16441904 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 synonymous_variant 0.410631 0.85817 0.54545 0.645754 0.7324765 0 0.9700025 TRUE 4.06855e-06 ENSE00000686544_008 ENSE00000686544 008 19 16552668 16552837 - 35 90 45 T C 16552717 1462 121 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACGTTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441905 16441906 16441906 exon -15 0.8444444 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACGTTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant NA NA NA NA NA 125 15 1 1 1 0.999615 0.9969894 0.8855953 0.9168093 NA NA 0.1144047 0.08319068 0.9983022 0.9012023 NA 0.09879769 NA FALSE NA 1 1.933 . missense_variant&NMD_transcript_variant MODERATE EPS15L1 HGNC 24634 ENST00000596037 3/8 1 tolerated(1) benign(0.007) NA ATG T,C 8.236e-06 19:16441906 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 missense_variant 0.120092 0.90544 0.82828 0.645754 0.8324705 0 0.9700025 TRUE 4.06755e-06 ENSE00000686544_009 ENSE00000686544 009 19 16552668 16552837 - 35 90 45 C T 16552720 1463 118 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGAACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441908 16441909 16441909 exon -18 0.8111111 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGAACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant NA NA NA NA NA 121 236 0.9993178 0.9951821 0.99725 0.999615 0.9969894 0.8855953 0.9168093 NA NA 0.1137225 0.07837281 0.9983022 0.9012023 NA 0.09604764 NA FALSE NA 1 7.199 rs143515806 missense_variant&NMD_transcript_variant MODERATE EPS15L1 HGNC 24634 ENST00000596037 3/8 rs143515806 1 deleterious(0) probably_damaging(0.999) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TCC C,T 3.295e-05 19:16441909 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 missense_variant 6.868103 0.95886 0.95921 0.645754 0.9991967 0 0.9700025 TRUE 1.21975e-05 ENSE00000686544_011 ENSE00000686544 011 19 16552668 16552837 - 35 90 45 C T 16552733 1465 105 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAATCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441921 16441922 16441922 exon -31 0.6666667 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAATCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant NA NA NA NA NA 49 428 1 0.9936914 0.9968457 0.999615 0.9969894 0.8855953 0.9168093 NA NA 0.1144047 0.07688213 0.9983022 0.9012023 NA 0.09564341 NA FALSE NA 0.874 -0.03 . synonymous_variant&NMD_transcript_variant LOW EPS15L1 HGNC 24634 ENST00000596037 3/8 1 NA ACT C,T 1.647e-05 19:16441922 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 synonymous_variant 2.302664 0.88551 0.56733 0.645754 0.88191 0 0.9700025 TRUE 1.62546e-05 ENSE00000686544_014 ENSE00000686544 014 19 16552668 16552837 - 35 90 45 C A 16552748 1468 90 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCTCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441936 16441937 16441937 exon 45 0.5 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCTCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant 33 31 0.9757758 0.9885827 0.9821792 NA NA NA NA NA 0.999615 0.9969894 0.8855953 0.9168093 -0.02383923 -0.008406689 NA NA 0.9983022 0.9012023 -0.01612296 NA NA NA FALSE 0.001 -1.757 . synonymous_variant&NMD_transcript_variant LOW EPS15L1 HGNC 24634 ENST00000596037 3/8 1 NA GCG C,A 1.647e-05 19:16441937 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 synonymous_variant 2.383758 0.785 0.14201 0.645754 0.7366684 0 0.9700025 TRUE 2.03217e-05 ENSE00000686544_024 ENSE00000686544 024 19 16552668 16552837 - 35 90 45 G A 16552790 1478 48 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTTGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441978 16441979 16441979 exon 3 0.03333333 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTTGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant NA NA NA NA NA 40 54 1 0.8572422 0.9286211 0.999615 0.9969894 0.8855953 0.9168093 NA NA 0.1144047 -0.05956717 0.9983022 0.9012023 NA 0.02741876 NA FALSE NA 0.016 -1.117 rs146599765 splice_region_variant&synonymous_variant&NMD_transcript_variant LOW EPS15L1 HGNC 24634 ENST00000596037 3/8 rs146599765 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0014 A:0 CGA G,A 5.765e-05 19:16441979 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 splice_region_variant 0.650438 0.8812 0.21828 0.712529 0.8624558 0 0.9700025 TRUE 6.57219e-05 ENSE00000686544_025 ENSE00000686544 025 19 16552668 16552837 - 35 90 45 A G 16552805 1479 33 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGCCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441993 16441994 16441994 upstr_intron -13 -0.2666667 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGCCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant 23 32 0.85 0.9233564 0.8866782 NA NA NA NA NA 0.999615 0.9969894 0.8855953 0.9168093 -0.149615 -0.07363291 NA NA 0.9983022 0.9012023 -0.111624 NA NA NA FALSE 0.18 1.571 . intron_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 2/7 1 NA GAC A,G 8.236e-06 19:16441994 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 intron_variant 0.031029 0.26511 0.17915 0.0869 0.5665334 0.144896 0.9700025 TRUE 4.17795e-06 ENSE00000686544_027 ENSE00000686544 027 19 16552668 16552837 - 35 90 45 G C 16552810 1481 28 TGCATTTGCTGAAAAGTTATTTTGCCTGTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441998 16441999 16441999 upstr_intron -18 -0.3777778 TGCATTTGCTGAAAAGTTATTTTGCCTGTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant NA NA NA NA NA 1185 95 0.9983562 1 0.9991781 0.999615 0.9969894 0.8855953 0.9168093 NA NA 0.1127609 0.08319068 0.9983022 0.9012023 NA 0.0979758 NA FALSE NA 0 -0.369 . intron_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 2/7 rs372907109 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 C:0.0011 C:0.0021 AGA G,C 0.00103 19:16441999 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 intron_variant -0.039073 0.21057 0.02433 0.0869 0.387599 0.0678964 0.9700025 TRUE 0.000853512 ENSE00000686544_028 ENSE00000686544 028 19 16552668 16552837 - 35 90 45 T C 16552826 1482 12 TGCATTTGCTGGAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16442014 16442015 16442015 upstr_intron -34 -0.7333333 TGCATTTGCTGGAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant NA NA NA NA NA 63 103 1 1 1 0.999615 0.9969894 0.8855953 0.9168093 NA NA 0.1144047 0.08319068 0.9983022 0.9012023 NA 0.09879769 NA FALSE NA 0 -0.143 . intron_variant&NMD_transcript_variant MODIFIER EPS15L1 HGNC 24634 ENST00000596037 2/7 1 NA TTC T,C 8.237e-06 19:16442015 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 intron_variant -0.134678 0.15624 0.08266 0.0869 0.3540195 0.068022 0.9700025 TRUE 4.19182e-06 ENSE00000697469_002 ENSE00000697469 002 8 72942091 72942260 - 45 69 56 A G 72942114 1454 147 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACCTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029878 72029879 72029879 downstr_intron 22 1.5 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACCTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 74 178 0.8711493 1 0.9355747 0.9967408 0.9926862 0.9103605 0.7375159 NA NA -0.03921119 0.2624841 0.9947135 0.8239382 NA 0.1116365 NA FALSE NA 0.003 -0.138 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs199630846 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0002 AAG A,G 0.000593 8:72029879 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant -0.044918 0.09294 0.00457 0.074636 0.6670706 0.0513792 NA NA 0.000366408 ENSE00000697469_003 ENSE00000697469 003 8 72942091 72942260 - 45 69 56 G A 72942115 1455 146 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCATTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029879 72029880 72029880 downstr_intron 21 1.477273 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCATTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 193 474 0.997043 1 0.9985215 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08668251 0.2624841 0.9947135 0.8239382 NA 0.1745833 NA FALSE NA 0.002 0.116 rs144527603 intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs144527603 1 A:0.0138 A:0.0507 A:0.0029 NA A:0 A:0 A:0 A:0.0318 A:0.0003 AGT G,A 0.003369 8:72029880 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant -0.144334 0.08756 0.00306 0.074636 0.5386261 0.0513792 NA NA 0.00260544 ENSE00000697469_006 ENSE00000697469 006 8 72942091 72942260 - 45 69 56 C A 72942129 1458 132 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTTCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029893 72029894 72029894 downstr_intron 7 1.159091 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTTCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 1407 131 0.9980337 1 0.9990169 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08767319 0.2624841 0.9947135 0.8239382 NA 0.1750787 NA FALSE NA 0.001 -0.382 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs575305496 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GCA C,A 7.413e-05 8:72029894 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 splice_region_variant 0.122207 0.10238 0.02006 0.074636 0.746753 0.0507998 NA NA 6.91721e-05 ENSE00000697469_007 ENSE00000697469 007 8 72942091 72942260 - 45 69 56 A G 72942130 1459 131 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGCGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029894 72029895 72029895 downstr_intron 6 1.136364 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGCGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 417 74 0.9985102 1 0.9992551 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08814965 0.2624841 0.9947135 0.8239382 NA 0.1753169 NA FALSE NA 0.327 4.336 rs186828882 intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs186828882 1 G:0.0012 G:0 G:0.0014 NA G:0 G:0.005 G:0 G:0.0007 G:0.0047 CAC A,G 0.004341 8:72029895 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 splice_region_variant 1.535257 0.91672 0.43645 0.074636 0.9256967 0.139291 NA NA 0.00440228 ENSE00000697469_008 ENSE00000697469 008 8 72942091 72942260 - 45 69 56 T C 72942141 1460 120 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTGTGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029905 72029906 72029906 exon -6 0.9275362 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTGTGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 1502 1066 0.9981339 0.9996674 0.9989006 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08777335 0.2621515 0.9947135 0.8239382 NA 0.1749624 NA FALSE NA 1 6.656 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs368632196 1 NA C:0 C:0.0002 ATA T,C 5.765e-05 8:72029906 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 missense_variant 5.423197 0.99236 0.99531 0.553676 0.9950707 0 NA NA 6.50867e-05 ENSE00000697469_009 ENSE00000697469 009 8 72942091 72942260 - 45 69 56 C T 72942148 1461 113 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGAATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029912 72029913 72029913 exon -13 0.826087 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGAATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 65 155 1 1 1 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08963947 0.2624841 0.9947135 0.8239382 NA 0.1760618 NA FALSE NA 0.999 0.461 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 1 NA TCC C,T 8.236e-06 8:72029913 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 synonymous_variant 1.650148 0.97309 0.89082 0.553676 0.6956764 0 NA NA 4.06808e-06 ENSE00000697469_010 ENSE00000697469 010 8 72942091 72942260 - 45 69 56 A G 72942156 1462 105 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCACTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029920 72029921 72029921 exon -21 0.7101449 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCACTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 1056 496 1 0.9952594 0.9976297 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08963947 0.2577435 0.9947135 0.8239382 NA 0.1736915 NA FALSE NA 0.001 -0.204 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 1 NA AAT A,G 2.471e-05 8:72029921 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 synonymous_variant 0.57149 0.12028 0.01378 0.553676 0.6290497 0 NA NA 1.22033e-05 ENSE00000697469_011 ENSE00000697469 011 8 72942091 72942260 - 45 69 56 T C 72942157 1463 104 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCGTTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029921 72029922 72029922 exon -22 0.6956522 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCGTTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 1409 4297 0.9246576 0.9999203 0.9622889 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.01429703 0.2624044 0.9947135 0.8239382 NA 0.1383507 NA FALSE NA 0 -0.926 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs201733351 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0.0009 C:0 ATG T,C 0.0001153 8:72029922 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 synonymous_variant 0.698272 0.15838 0.02345 0.553676 0.7270538 0 NA NA 0.00010169 ENSE00000697469_012 ENSE00000697469 012 8 72942091 72942260 - 45 69 56 C A 72942177 1464 84 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTTAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029941 72029942 72029942 exon 28 0.4057971 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTTAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 33 12 0.8078376 1 0.9039188 0.9967408 0.9926862 0.9103605 0.7375159 NA NA -0.1025229 0.2624841 0.9947135 0.8239382 NA 0.07998061 NA FALSE NA 1 6.475 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 1 NA TCA C,A 8.236e-06 8:72029942 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 stop_gained 14.68387 0.9937 0.99291 0.553676 0.9974646 0 NA NA 4.06732e-06 ENSE00000697469_013 ENSE00000697469 013 8 72942091 72942260 - 45 69 56 G A 72942187 1465 74 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGTGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029951 72029952 72029952 exon 18 0.2608696 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGTGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 738 473 0.9981451 0.9995848 0.998865 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08778461 0.2620689 0.9947135 0.8239382 NA 0.1749268 NA FALSE NA 0.498 -0.798 rs192532167 intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs192532167&COSM751868 1 A:0.0004 A:0 A:0 NA A:0.002 A:0 A:0 CGC A,A 0.000313 8:72029952 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 synonymous_variant 1.595827 0.90496 0.02298 0.553676 0.6902622 0 NA NA 0.000272633 ENSE00000697469_016 ENSE00000697469 016 8 72942091 72942260 - 45 69 56 G T 72942210 1468 51 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATAATTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029974 72029975 72029975 upstr_intron -6 -0.08928571 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATAATTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 433 199 1 0.9888956 0.9944478 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08963947 0.2513797 0.9947135 0.8239382 NA 0.1705096 NA FALSE NA 0 -1.143 rs3824151 intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs3824151 1 G:0.3241 T:0.6732 T:0.7536 NA T:0.6935 T:0.5726 T:0.7127 T:0.6534 T:0.5905 AGT G,T 0.637 8:72029975 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 splice_region_variant 0.444508 0.24139 0.04909 0.074636 0.6783396 0.0778279 NA NA 0.64295 ENSE00000697469_017 ENSE00000697469 017 8 72942091 72942260 - 45 69 56 T G 72942211 1469 50 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATCCTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029975 72029976 72029976 upstr_intron -7 -0.1071429 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATCCTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 145 307 1 1 1 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08963947 0.2624841 0.9947135 0.8239382 NA 0.1760618 NA FALSE NA 0 -0.363 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 1 NA GTA T,G 8.237e-06 8:72029976 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 splice_region_variant 0.427748 0.11896 0.0219 0.074636 0.7127536 0.0741192 NA NA NA ENSE00000697469_018 ENSE00000697469 018 8 72942091 72942260 - 45 69 56 T C 72942228 1470 33 TGCATTTTTAGGTGGACCATTCAACTGTAGTGGTTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029992 72029993 72029993 upstr_intron -24 -0.4107143 TGCATTTTTAGGTGGACCATTCAACTGTAGTGGTTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 1765 460 0.9973419 0.9773848 0.9873633 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08698135 0.2398689 0.9947135 0.8239382 NA 0.1634251 NA FALSE NA 0.001 0.368 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs560173319 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATC T,C 8.237e-06 8:72029993 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant 0.699705 0.2508 0.05924 0.074636 0.762654 0.0503395 NA NA 4.0707e-06 ENSE00000697469_019 ENSE00000697469 019 8 72942091 72942260 - 45 69 56 A C 72942230 1471 31 TGCATTTTTAGGTGGACCATTCAACTGTAGGGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029994 72029995 72029995 upstr_intron -26 -0.4464286 TGCATTTTTAGGTGGACCATTCAACTGTAGGGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 524 635 0.994179 0.9901603 0.9921696 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08381843 0.2526444 0.9947135 0.8239382 NA 0.1682314 NA FALSE NA 0 0.884 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 1 NA CAC A,C 1.647e-05 8:72029995 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant 0.735818 0.27326 0.11342 0.074636 0.7005063 0.0503395 NA NA 8.14286e-06 ENSE00000697469_020 ENSE00000697469 020 8 72942091 72942260 - 45 69 56 C G 72942231 1472 30 TGCATTTTTAGGTGGACCATTCAACTGTACTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029995 72029996 72029996 upstr_intron -27 -0.4642857 TGCATTTTTAGGTGGACCATTCAACTGTACTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 269 98 0.9992325 0.993954 0.9965932 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08887201 0.2564381 0.9947135 0.8239382 NA 0.1726551 NA FALSE NA 0 -1.078 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs529215960 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 ACT C,G 8.237e-06 8:72029996 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant 0.6364 0.22542 0.05174 0.074636 0.692988 0.0503395 NA NA 4.07153e-06 ENSE00000697469_021 ENSE00000697469 021 8 72942091 72942260 - 45 69 56 T C 72942232 1473 29 TGCATTTTTAGGTGGACCATTCAACTGTGGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029996 72029997 72029997 upstr_intron -28 -0.4821429 TGCATTTTTAGGTGGACCATTCAACTGTGGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 394 16 0.9849036 1 0.9924518 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.07454304 0.2624841 0.9947135 0.8239382 NA 0.1685136 NA FALSE NA 0 -0.117 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 1 NA CTA T,C 2.471e-05 8:72029997 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant 0.346574 0.20566 0.06535 0.074636 0.7112587 0.0503395 NA NA 2.4431e-05 ENSE00000697469_022 ENSE00000697469 022 8 72942091 72942260 - 45 69 56 A G 72942233 1474 28 TGCATTTTTAGGTGGACCATTCAACTGCAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029997 72029998 72029998 upstr_intron -29 -0.5 TGCATTTTTAGGTGGACCATTCAACTGCAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 90 1732 1 0.9919245 0.9959622 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08963947 0.2544086 0.9947135 0.8239382 NA 0.1720241 NA FALSE NA 0 -1.073 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 1 NA TAC A,G 8.237e-06 8:72029998 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant 0.744244 0.13597 0.02128 0.074636 0.6713497 0.0503395 NA NA 1.22147e-05 ENSE00000697469_023 ENSE00000697469 023 8 72942091 72942260 - 45 69 56 G T 72942236 1475 25 TGCATTTTTAGGTGGACCATTCAAATGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72030000 72030001 72030001 upstr_intron -32 -0.5535714 TGCATTTTTAGGTGGACCATTCAAATGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 503 424 0.9799649 0.9085558 0.9442604 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.06960433 0.17104 0.9947135 0.8239382 NA 0.1203222 NA FALSE NA 0 -0.449 rs142657645 intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs142657645 1 T:0.0020 T:0 T:0 NA T:0.0099 T:0 T:0 AGT G,T 0.0005683 8:72030001 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant 0.448925 0.19845 0.01535 0.074636 0.7808732 0.0503395 NA NA 0.000659813 ENSE00000697469_024 ENSE00000697469 024 8 72942091 72942260 - 45 69 56 T C 72942242 1476 19 TGCATTTTTAGGTGGACCGTTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72030006 72030007 72030007 upstr_intron -38 -0.6607143 TGCATTTTTAGGTGGACCGTTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 802 1435 0.9925293 0.9965869 0.9945581 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08216872 0.259071 0.9947135 0.8239382 NA 0.1706199 NA FALSE NA 0 -0.038 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 rs375914611 1 NA C:0.0007 C:0 ATG C,C 3.295e-05 8:72030007 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant -0.368899 0.11371 0.04576 0.074636 0.32965 0.0503395 NA NA 3.26121e-05 ENSE00000697469_025 ENSE00000697469 025 8 72942091 72942260 - 45 69 56 C A 72942247 1477 14 TGCATTTTTAGGTTGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72030011 72030012 72030012 upstr_intron -43 -0.75 TGCATTTTTAGGTTGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 716 284 1 0.9698891 0.9849445 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08963947 0.2323732 0.9947135 0.8239382 NA 0.1610063 NA FALSE NA 0 -0.162 . intron_variant MODIFIER RP11-383H13.1 Clone_based_vega_gene NA ENST00000537896 4/4 1 NA CCA C,A 8.237e-06 8:72030012 MSC-AS1 HGNC Symbol antisense 290226 ENSG00000235531 ENSE00000697469 intron_variant 0.243856 0.2259 0.04795 0.074636 0.4576301 0.0503395 NA NA NA ENSE00000700481_001 ENSE00000700481 001 4 5757950 5758119 + 41 99 30 T C 5757961 286 12 CTGCATGTTTCCACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 5756233 5756234 5756234 upstr_intron -30 -0.7073171 CTGCATGTTTCCACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA mutant NA NA NA NA NA 634 34 0.999675 0.945118 0.9723965 NA NA 0.9977665 0.9911602 NA NA 0.001908517 -0.04604213 NA 0.9944633 NA -0.02206681 NA FALSE NA 0 -0.262 . downstream_gene_variant MODIFIER EVC HGNC 3497 ENST00000514919 1 NA CTA T,C 8.245e-06 4:5756234 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00000700481 intron_variant 0.325418 0.13305 0.03372 0.163922 0.782571 0.166792 8.014996e-08 FALSE 9.2256e-06 ENSE00000700481_002 ENSE00000700481 002 4 5757950 5758119 + 41 99 30 C A 5757964 287 15 CTGCATGTTTCTACAAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 5756236 5756237 5756237 upstr_intron -27 -0.6341463 CTGCATGTTTCTACAAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA mutant NA NA NA NA NA 24 500 1 0.9849075 0.9924537 NA NA 0.9977665 0.9911602 NA NA 0.002233523 -0.006252679 NA 0.9944633 NA -0.002009578 NA FALSE NA 0 -2.588 . downstream_gene_variant MODIFIER EVC HGNC 3497 ENST00000514919 rs200557270 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CCA C,A 1.649e-05 4:5756237 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00000700481 intron_variant -0.064267 0.10441 0.02819 0.163922 0.5186808 0.10908 8.014996e-08 FALSE NA ENSE00000700481_004 ENSE00000700481 004 4 5757950 5758119 + 41 99 30 G A 5757978 289 29 CTGCATGTTTCTACCAGACTCAGCTCTTATTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 5756250 5756251 5756251 upstr_intron -13 -0.2926829 CTGCATGTTTCTACCAGACTCAGCTCTTATTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA mutant NA NA NA NA NA 45 609 0.9752634 0.9963512 0.9858073 NA NA 0.9977665 0.9911602 NA NA -0.02250311 0.005191061 NA 0.9944633 NA -0.008656026 NA FALSE NA 0 0.896 . downstream_gene_variant MODIFIER EVC HGNC 3497 ENST00000514919 1 NA TGT G,A 8.238e-06 4:5756251 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00000700481 intron_variant 0.330071 0.20532 0.05372 0.322412 0.5302796 0.203744 8.014996e-08 FALSE 4.24531e-06 ENSE00000700481_005 ENSE00000700481 005 4 5757950 5758119 + 41 99 30 A C 5757998 290 49 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCCTGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 5756270 5756271 5756271 exon 8 0.08080808 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCCTGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA mutant NA NA NA NA NA 429 124 1 0.9898816 0.9949408 NA NA 0.9977665 0.9911602 NA NA 0.002233523 -0.001278552 NA 0.9944633 NA 0.0004774855 NA FALSE NA 0.973 4.708 . downstream_gene_variant MODIFIER EVC HGNC 3497 ENST00000514919 1 NA CAT A,C 8.237e-06 4:5756271 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00000700481 missense_variant 3.596147 0.44897 0.74643 0.732398 0.9345572 0 8.014996e-08 FALSE 4.12052e-06 ENSE00000700481_008 ENSE00000700481 008 4 5757950 5758119 + 41 99 30 C G 5758021 293 72 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGGTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 5756293 5756294 5756294 exon 31 0.3131313 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGGTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA mutant NA NA NA NA NA 32 183 1 0.9946256 0.9973128 NA NA 0.9977665 0.9911602 NA NA 0.002233523 0.003465475 NA 0.9944633 NA 0.002849499 NA FALSE NA 0.246 -0.756 rs139157869 downstream_gene_variant MODIFIER EVC HGNC 3497 ENST00000514919 rs139157869 1 G:0.0008 G:0.003 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 GCT C,G 4.118e-05 4:5756294 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00000700481 missense_variant -0.419464 0.25046 0.0928 0.706548 0.7935915 0 8.014996e-08 FALSE 4.51334e-05 ENSE00000700481_011 ENSE00000700481 011 4 5757950 5758119 + 41 99 30 G C 5758039 296 90 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGCAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 5756311 5756312 5756312 exon 49 0.4949495 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGCAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA mutant NA NA NA NA NA 46 71 0.9963655 1 0.9981828 NA NA 0.9977665 0.9911602 NA NA -0.001400939 0.008839848 NA 0.9944633 NA 0.003719455 NA FALSE NA 1 4.968 rs138171411 downstream_gene_variant MODIFIER EVC HGNC 3497 ENST00000514919 rs138171411 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GGA G,C 1.647e-05 4:5756312 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00000700481 missense_variant 3.190312 0.89367 0.82684 0.706548 0.9928974 0 8.014996e-08 FALSE 8.24246e-06 ENSE00000700481_015 ENSE00000700481 015 4 5757950 5758119 + 41 99 30 C T 5758062 300 113 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCTACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 5756334 5756335 5756335 exon -28 0.7272727 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCTACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA mutant NA NA NA NA NA 61 515 1 1 1 NA NA 0.9977665 0.9911602 NA NA 0.002233523 0.008839848 NA 0.9944633 NA 0.005536686 NA FALSE NA 0 -0.993 . downstream_gene_variant MODIFIER EVC HGNC 3497 ENST00000514919 rs368554773 1 NA T:0.0002 T:0 CCA C,T 4.942e-05 4:5756335 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00000700481 synonymous_variant 0.499218 0.17743 0.04615 0.706548 0.3797747 0 8.014996e-08 FALSE 2.49254e-05 ENSE00000700481_017 ENSE00000700481 017 4 5757950 5758119 + 41 99 30 G A 5758066 302 117 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCAAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA 5756222 5756392 5756338 5756339 5756339 exon -24 0.7676768 CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCAAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA CTGCATGTTTCTACCAGACTCAGCTCTTGTTTTCCTCACAGGCTTTTCATGAGGTCCTGGAGAGGCAGAGGCTGATGCAGTGTGACCTGGAGGAAGAGGAGAATGTCAGAGCCACCGAGGCTGTGGTTGCACTCTGCCAGGTACATGGCCTCTGTGGGGACCAGCAGAGA mutant NA NA NA NA NA 103 154 1 1 1 NA NA 0.9977665 0.9911602 NA NA 0.002233523 0.008839848 NA 0.9944633 NA 0.005536686 NA FALSE NA 0.507 0.496 rs141896077 downstream_gene_variant MODIFIER EVC HGNC 3497 ENST00000514919 rs141896077&COSM1430363 1 A:0.0010 A:0.003 A:0 NA A:0.001 A:0 A:0 A:0.0018 A:0 CGA G,A 0.00014 4:5756339 EVC HGNC Symbol protein_coding 103108 ENSG00000072840 ENSE00000700481 missense_variant 2.554419 0.20953 0.19214 0.706548 0.9889799 0 8.014996e-08 FALSE 0.000141678 ENSE00000700625_001 ENSE00000700625 001 15 83215152 83215321 - 39 81 50 G A 83215163 2260 159 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGTCCTCTATTAAA 82546401 82546571 82546412 82546413 82546413 downstr_intron 28 1.736842 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGTCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 1538 33 0.994344 1 0.997172 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3910646 0.2657016 0.9971894 0.6687889 NA 0.3283831 NA FALSE NA 0.65 2.028 rs142217377 intron_variant MODIFIER CPEB1 HGNC 21744 ENST00000564522 10/10 rs142217377 1 A:0.0076 A:0.0015 A:0.0173 NA A:0 A:0.0189 A:0.0051 A:0.005 A:0.0277 GGC G,A 0.018 15:82546413 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 intron_variant 2.113456 0.42043 0.38411 0.074636 0.9322451 0.135779 0.9995913 TRUE 0.0184712 ENSE00000700625_002 ENSE00000700625 002 15 83215152 83215321 - 39 81 50 A G 83215165 2261 157 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCCGCCCTCTATTAAA 82546401 82546571 82546414 82546415 82546415 downstr_intron 26 1.684211 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCCGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 988 312 1 0.9990182 0.9995091 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3967205 0.2647198 0.9971894 0.6687889 NA 0.3307202 NA FALSE NA 0 -0.101 . intron_variant MODIFIER CPEB1 HGNC 21744 ENST00000564522 10/10 1 NA CAG A,G 8.275e-06 15:82546415 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 intron_variant 2.159953 0.20652 0.01678 0.074636 0.911806 0.137179 0.9995913 TRUE 4.0711e-06 ENSE00000700625_003 ENSE00000700625 003 15 83215152 83215321 - 39 81 50 A C 83215169 2262 153 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGGCCCTGCCCTCTATTAAA 82546401 82546571 82546418 82546419 82546419 downstr_intron 22 1.578947 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGGCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 219 261 1 1 1 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3967205 0.2657016 0.9971894 0.6687889 NA 0.3312111 NA FALSE NA 0 1.172 . intron_variant MODIFIER CPEB1 HGNC 21744 ENST00000564522 10/10 1 NA GAC A,C 8.275e-06 15:82546419 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 intron_variant 1.966422 0.24214 0.35634 0.074636 0.8942712 0.137179 0.9995913 TRUE 4.06875e-06 ENSE00000700625_007 ENSE00000700625 007 15 83215152 83215321 - 39 81 50 C T 83215182 2266 140 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCAATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546431 82546432 82546432 downstr_intron 9 1.236842 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCAATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 355 367 1 0.9982723 0.9991362 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3967205 0.263974 0.9971894 0.6687889 NA 0.3303472 NA FALSE NA 0.006 -0.58 . intron_variant MODIFIER CPEB1 HGNC 21744 ENST00000564522 10/10 1 NA TCG C,T 1.655e-05 15:82546432 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 intron_variant 2.114304 0.66907 0.01601 0.164513 0.8976408 0.300315 0.9995913 TRUE 2.0331e-05 ENSE00000700625_008 ENSE00000700625 008 15 83215152 83215321 - 39 81 50 G A 83215183 2267 139 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCTGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546432 82546433 82546433 downstr_intron 8 1.210526 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCTGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant 42 44 0.9991508 1 0.9995754 429 866 1 0.996405 0.9982025 0.9978215 0.9965572 0.6032795 0.7342984 0.001329298 0.003442822 0.3967205 0.2621067 0.9971894 0.6687889 0.00238606 0.3294136 0.3270275 FALSE FALSE 0.119 0.703 . splice_region_variant&intron_variant LOW CPEB1 HGNC 21744 ENST00000564522 10/10 rs536595449 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGG G,A 6.619e-05 15:82546433 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 splice_region_variant 1.865128 0.94565 0.20247 0.164513 0.9113651 0.4295 0.9995913 TRUE 4.06497e-05 ENSE00000700625_009 ENSE00000700625 009 15 83215152 83215321 - 39 81 50 A G 83215194 2268 128 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGACCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546443 82546444 82546444 exon -4 0.962963 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGACCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 995 210 0.994799 0.9992461 0.9970226 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3915195 0.2649478 0.9971894 0.6687889 NA 0.3282336 NA FALSE NA 1 1.219 . synonymous_variant LOW CPEB1 HGNC 21744 ENST00000564522 10/11 1 NA GAT A,G 8.274e-06 15:82546444 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 synonymous_variant 0.691744 0.9788 0.56338 0.638212 0.8356276 0 0.9995913 TRUE 4.06365e-06 ENSE00000700625_011 ENSE00000700625 011 15 83215152 83215321 - 39 81 50 T G 83215197 2270 125 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGCGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546446 82546447 82546447 exon -7 0.9259259 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGCGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 540 22 0.9957156 1 0.9978578 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3924361 0.2657016 0.9971894 0.6687889 NA 0.3290689 NA FALSE NA 0.989 -0.012 . synonymous_variant LOW CPEB1 HGNC 21744 ENST00000564522 10/11 rs551922444 1 NA CTC T,G 8.274e-06 15:82546447 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 synonymous_variant 0.742329 0.9734 0.81345 0.638212 0.8219744 0 0.9995913 TRUE 8.12737e-06 ENSE00000700625_012 ENSE00000700625 012 15 83215152 83215321 - 39 81 50 G T 83215199 2271 123 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTAGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546448 82546449 82546449 exon -9 0.9012346 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTAGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant 29 20 0.6800815 0.8501654 0.7651235 NA NA NA NA NA 0.9978215 0.9965572 0.6032795 0.7342984 -0.31774 -0.1463918 NA NA 0.9971894 0.6687889 -0.2320659 NA NA NA FALSE 1 4.998 . synonymous_variant LOW CPEB1 HGNC 21744 ENST00000564522 10/11 COSM965690&COSM1588144 1 NA CGA G,T 1.655e-05 15:82546449 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 synonymous_variant 1.482846 0.98519 0.79066 0.638212 0.8508882 0 0.9995913 TRUE 1.21904e-05 ENSE00000700625_013 ENSE00000700625 013 15 83215152 83215321 - 39 81 50 A C 83215215 2272 107 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCGGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546464 82546465 82546465 exon -25 0.7037037 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCGGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 757 108 0.9992364 0.9956562 0.9974463 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3959569 0.2613578 0.9971894 0.6687889 NA 0.3286574 NA FALSE NA 0.994 0.423 . synonymous_variant LOW CPEB1 HGNC 21744 ENST00000564522 10/11 1 NA CAG A,C 8.274e-06 15:82546465 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 synonymous_variant -0.1519 0.96987 0.80883 0.638212 0.76552 0 0.9995913 TRUE 4.06204e-06 ENSE00000700625_016 ENSE00000700625 016 15 83215152 83215321 - 39 81 50 A C 83215233 2275 89 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCAGATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546482 82546483 82546483 exon 39 0.4814815 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCAGATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 420 470 1 1 1 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3967205 0.2657016 0.9971894 0.6687889 NA 0.3312111 NA FALSE NA 0.053 -0.563 . missense_variant MODERATE CPEB1 HGNC 21744 ENST00000564522 10/11 1 tolerated(0.76) benign(0.004) NA TAT A,C 8.274e-06 15:82546483 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 missense_variant 1.404767 0.95585 0.15906 0.553676 0.9541191 0 0.9995913 TRUE 3.24918e-05 ENSE00000700625_017 ENSE00000700625 017 15 83215152 83215321 - 39 81 50 G A 83215241 2276 81 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTTTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546490 82546491 82546491 exon 31 0.382716 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTTTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 207 740 0.9996017 0.9856263 0.992614 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3963222 0.251328 0.9971894 0.6687889 NA 0.3238251 NA FALSE NA 1 2.791 . synonymous_variant LOW CPEB1 HGNC 21744 ENST00000564522 10/11 1 NA AGA G,A 8.274e-06 15:82546491 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 synonymous_variant 1.332548 0.97568 0.8312 0.553676 0.8360441 0 0.9995913 TRUE 4.06134e-06 ENSE00000700625_019 ENSE00000700625 019 15 83215152 83215321 - 39 81 50 G T 83215257 2278 65 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCATACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546506 82546507 82546507 exon 15 0.1851852 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCATACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 881 129 0.9992502 0.998772 0.9990111 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3959707 0.2644736 0.9971894 0.6687889 NA 0.3302222 NA FALSE NA 0.631 -0.627 . synonymous_variant LOW CPEB1 HGNC 21744 ENST00000564522 10/11 1 NA AGG G,T 0.0001076 15:82546507 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 synonymous_variant 0.315853 0.95707 0.23309 0.638212 0.8432473 0 0.9995913 TRUE 0.000142156 ENSE00000700625_020 ENSE00000700625 020 15 83215152 83215321 - 39 81 50 C A 83215266 2279 56 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCATATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546515 82546516 82546516 exon 6 0.07407407 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCATATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 533 374 0.9962411 1 0.9981205 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3929616 0.2657016 0.9971894 0.6687889 NA 0.3293316 NA FALSE NA 1 2.815 . missense_variant MODERATE CPEB1 HGNC 21744 ENST00000564522 10/11 rs370005577 1 deleterious(0) probably_damaging(0.993) NA A:0 A:0.0001 TCT C,A 8.274e-06 15:82546516 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 missense_variant 6.644363 0.98501 0.94337 0.638212 0.9973891 0 0.9995913 TRUE 4.06171e-06 ENSE00000700625_021 ENSE00000700625 021 15 83215152 83215321 - 39 81 50 C T 83215271 2280 51 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGATTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546520 82546521 82546521 exon 1 0.01234568 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGATTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 256 234 0.9975634 0.9991827 0.998373 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3942839 0.2648843 0.9971894 0.6687889 NA 0.3295841 NA FALSE NA 1 5.383 . missense_variant&splice_region_variant MODERATE CPEB1 HGNC 21744 ENST00000564522 10/11 1 tolerated(0.17) benign(0.108) NA ACC C,T 1.655e-05 15:82546521 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 missense_variant 3.706807 0.99298 0.96525 0.638212 0.9974457 0 0.9995913 TRUE 8.12427e-06 ENSE00000700625_024 ENSE00000700625 024 15 83215152 83215321 - 39 81 50 G A 83215297 2283 25 GCCTCCTGGTAAGAAGAGCCACTTTATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546546 82546547 82546547 upstr_intron -26 -0.5 GCCTCCTGGTAAGAAGAGCCACTTTATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 472 308 0.998861 0.9922185 0.9955398 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3955815 0.2579201 0.9971894 0.6687889 NA 0.3267508 NA FALSE NA 0 -0.618 . intron_variant MODIFIER CPEB1 HGNC 21744 ENST00000564522 9/10 1 NA TGA G,A 1.655e-05 15:82546547 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 intron_variant 0.145399 0.21213 0.02669 0.06567 0.6189987 0.147085 0.9995913 TRUE 1.62664e-05 ENSE00000700625_025 ENSE00000700625 025 15 83215152 83215321 - 39 81 50 A G 83215299 2284 23 GCCTCCTGGTAAGAAGAGCCACCTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546548 82546549 82546549 upstr_intron -28 -0.54 GCCTCCTGGTAAGAAGAGCCACCTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 1118 54 1 1 1 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3967205 0.2657016 0.9971894 0.6687889 NA 0.3312111 NA FALSE NA 0.008 0.956 . intron_variant MODIFIER CPEB1 HGNC 21744 ENST00000564522 9/10 1 NA AAG A,G 4.964e-05 15:82546549 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 intron_variant 0.228578 0.24227 0.05874 0.06567 0.5787443 0.138836 0.9995913 TRUE 2.4401e-05 ENSE00000700625_026 ENSE00000700625 026 15 83215152 83215321 - 39 81 50 G A 83215300 2285 22 GCCTCCTGGTAAGAAGAGCCATTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546549 82546550 82546550 upstr_intron -29 -0.56 GCCTCCTGGTAAGAAGAGCCATTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 30 857 1 0.9999556 0.9999778 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3967205 0.2656572 0.9971894 0.6687889 NA 0.3311889 NA FALSE NA 0.004 0.432 . intron_variant MODIFIER CPEB1 HGNC 21744 ENST00000564522 9/10 1 NA AGT G,A 8.274e-06 15:82546550 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 intron_variant 0.211995 0.2475 0.01467 0.06567 0.660845 0.0898681 0.9995913 TRUE 4.06765e-06 ENSE00000700625_027 ENSE00000700625 027 15 83215152 83215321 - 39 81 50 T G 83215310 2286 12 GCCTCCTGGTACGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546559 82546560 82546560 upstr_intron -39 -0.76 GCCTCCTGGTACGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 1422 1657 1 0.902423 0.9512115 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3967205 0.1681246 0.9971894 0.6687889 NA 0.2824226 NA FALSE NA 0 -0.718 rs186544327 intron_variant MODIFIER CPEB1 HGNC 21744 ENST00000564522 9/10 rs186544327 1 G:0.0016 G:0 G:0.0043 NA G:0 G:0.005 G:0 G:0.0003 G:0.003 CTT T,G 0.002432 15:82546560 CPEB1 HGNC Symbol protein_coding 105660 ENSG00000214575 ENSE00003651905 intron_variant -0.004486 0.17397 0.03836 0.06567 0.4176453 0.145019 0.9995913 TRUE 0.00211239 ENSE00000708419_011 ENSE00000708419 011 19 41893384 41893553 - 35 90 45 G A 41893466 2492 88 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCATTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387560 41387561 41387561 exon 43 0.4777778 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAATGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 84 44 0.8776842 0.95 0.9138421 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.09500378 -0.004895353 0.8601923 0.9637916 NA -0.04994957 NA FALSE NA 0.056 1.155 . downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 rs377456809&COSM1393963 1 NA A:0 A:0.0001 CGT G,A 7.416e-05 19:41387561 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 missense_variant 3.227721 0.27911 0.14092 0.732398 0.9881543 0 0.001192557 FALSE 6.90751e-05 ENSE00000708419_012 ENSE00000708419 012 19 41893384 41893553 - 35 90 45 C T 41893472 2493 82 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCATGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387566 41387567 41387567 exon 37 0.4111111 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCATGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 264 330 0.8771166 0.835394 0.8562553 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.09557139 -0.1195014 0.8601923 0.9637916 NA -0.1075364 NA FALSE NA 0.069 1.716 rs143662824 downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 rs143662824 1 NA T:0 T:0.0001 ACG C,T 8.239e-06 19:41387567 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 missense_variant 3.814916 0.90379 0.37539 0.732398 0.9906679 0 0.001192557 FALSE NA ENSE00000708419_013 ENSE00000708419 013 19 41893384 41893553 - 35 90 45 G A 41893473 2494 81 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACACTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387567 41387568 41387568 exon 36 0.4 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGTGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 103 111 0.8 0.8090282 0.8045141 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.1726879 -0.1458671 0.8601923 0.9637916 NA -0.1592775 NA FALSE NA 0.015 -0.909 . downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 1 NA CGC G,A 1.648e-05 19:41387568 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 synonymous_variant 1.687393 0.85821 0.13141 0.732398 0.8149823 0 0.001192557 FALSE NA ENSE00000708419_014 ENSE00000708419 014 19 41893384 41893553 - 35 90 45 G A 41893476 2495 78 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTATCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387570 41387571 41387571 exon 33 0.3666667 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGATAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 82 269 0.8206241 0.8 0.8103121 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.1520638 -0.1548954 0.8601923 0.9637916 NA -0.1534796 NA FALSE NA 1 3.032 . downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 rs199966819 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGT G,A 4.944e-05 19:41387571 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 synonymous_variant 0.31884 0.91491 0.74721 0.732398 0.7966495 0 0.001192557 FALSE NA ENSE00000708419_017 ENSE00000708419 017 19 41893384 41893553 - 35 90 45 G C 41893482 2498 72 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGCGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387576 41387577 41387577 exon 27 0.3 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCGCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 30 181 0.8134937 0.8232725 0.8183831 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.1591942 -0.1316229 0.8601923 0.9637916 NA -0.1454086 NA FALSE NA 0.025 -2.046 . downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 1 NA GGG G,C 8.24e-06 19:41387577 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 synonymous_variant 0.091597 0.09693 0.03023 0.732398 0.7517896 0 0.001192557 FALSE NA ENSE00000708419_019 ENSE00000708419 019 19 41893384 41893553 - 35 90 45 C T 41893499 2500 55 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGTCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387593 41387594 41387594 exon 10 0.1111111 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGACAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 23 17 0.9981969 0.9977295 0.9979632 0.860501 0.8598835 0.9726879 0.9548954 NA NA 0.02550891 0.04283412 0.8601923 0.9637916 NA 0.03417152 NA FALSE NA 0.994 2.622 rs151051277 downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 rs151051277 1 NA T:0 T:0.0001 GCC C,T 5.774e-05 19:41387594 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 missense_variant 4.409403 0.92547 0.71475 0.732398 0.9985219 0 0.001192557 FALSE 5.05659e-05 ENSE00000708419_021 ENSE00000708419 021 19 41893384 41893553 - 35 90 45 G A 41893502 2502 52 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCAGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387596 41387597 41387597 exon 7 0.07777778 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCTGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 36 44 0.95 0.95 0.95 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.02268794 -0.004895353 0.8601923 0.9637916 NA -0.01379165 NA FALSE NA 1 4.89 rs140989771 downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 rs140989771 1 NA A:0 A:0.0001 CGG G,A 3.301e-05 19:41387597 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 missense_variant 8.139763 0.94981 0.86067 0.732398 0.9991687 0 0.001192557 FALSE NA ENSE00000708419_022 ENSE00000708419 022 19 41893384 41893553 - 35 90 45 C T 41893508 2503 46 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTTCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387602 41387603 41387603 exon 1 0.01111111 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGAAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 153 52 0 0 0 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.9726879 -0.9548954 0.8601923 0.9637916 NA -0.9637916 NA TRUE NA 1 5.254 . downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 1 NA TCC C,T 8.254e-06 19:41387603 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 missense_variant 4.374877 0.9457 0.85707 0.67177 0.9964745 0 0.001192557 FALSE NA ENSE00000708419_024 ENSE00000708419 024 19 41893384 41893553 - 35 90 45 G T 41893519 2505 35 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAATGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387613 41387614 41387614 upstr_intron -11 -0.2222222 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCATTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 167 35 0.9588106 0.95 0.9544053 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.01387738 -0.004895353 0.8601923 0.9637916 NA -0.009386369 NA FALSE NA 0 0.049 . downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 1 NA AGG G,T 1.654e-05 19:41387614 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 intron_variant 0.111803 0.19805 0.09398 0.115753 0.7641145 0.340358 0.001192557 FALSE NA ENSE00000708419_026 ENSE00000708419 026 19 41893384 41893553 - 35 90 45 C T 41893530 2507 24 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGTGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387624 41387625 41387625 upstr_intron -22 -0.4666667 GGGAAGGTCCTAGGTCCCCCACCACCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 124 120 0.9790141 0.9819984 0.9805063 0.860501 0.8598835 0.9726879 0.9548954 NA NA 0.006326166 0.02710308 0.8601923 0.9637916 NA 0.01671462 NA FALSE NA 0 -0.61 . downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 1 NA GCG C,T 8.316e-06 19:41387625 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 intron_variant 0.101862 0.11395 0.00383 0.115753 0.7268203 0.107274 0.001192557 FALSE NA ENSE00000708419_027 ENSE00000708419 027 19 41893384 41893553 - 35 90 45 G A 41893531 2508 23 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCAGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387625 41387626 41387626 upstr_intron -23 -0.4888889 GGGAAGGTCCTAGGTCCCCCACTGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 170 25 0.9445826 0.9313863 0.9379845 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.02810538 -0.02350901 0.8601923 0.9637916 NA -0.0258072 NA FALSE NA 0 0.205 . downstream_gene_variant MODIFIER EXOSC5 HGNC 24662 ENST00000593523 1 NA CGG G,A 2.495e-05 19:41387626 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 intron_variant -0.093142 0.14819 0.02985 0.115753 0.6791881 0.107274 0.001192557 FALSE 0.00010131 ENSE00000713116_004 ENSE00000713116 004 12 2909157 2909326 + 48 84 38 G A 2909200 157 44 TCCTGGGAGTGTCCTTAGGACAATGACTGTTGGCTCACCTTGAAGTACACAGTGCCCCGCTCTTTCACTATGGTGCTCTGTTCCAGCTTCTCTTCTGAATTCATCTCCCAAGACTCCTTGGCCTGCTACACCCCAGGAGAGAAACAAAGTTGTCAGCTACCCCAGAGTCA 2799990 2800160 2800033 2800034 2800034 upstr_intron -5 -0.08333333 TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTAGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA mutant 146 14 0.165219 0.1467185 0.1559687 NA NA NA NA NA NA NA 0.9971637 0.9720196 NA NA NA NA NA 0.9845916 NA NA NA NA NA 0.13 1.886 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW FKBP4 HGNC 3720 ENST00000543037 2/3 1 NA TGG G,A 8.236e-06 12:2800034 FKBP4 HGNC Symbol protein_coding 10470 ENSG00000004478 ENSE00003463512 splice_region_variant 1.827912 0.7092 0.19874 0.156188 0.8950994 0.369485 0.9274731 TRUE 4.06085e-06 ENSE00000713116_007 ENSE00000713116 007 12 2909157 2909326 + 48 84 38 A G 2909209 160 53 TCCTGGGAGTGTCCTTAGGACAATGACTGTTGGCTCACCTTGAAGTACACAGTGCCCCGCTCTTTCACTATGGTGCTCTGTTCCAGCTTCTCTTCTGAATTCATCTCCCAAGACTCCCTGGCCTGCCACACCCCAGGAGAGAAACAAAGTTGTCAGCTACCCCAGAGTCA 2799990 2800160 2800042 2800043 2800043 exon 5 0.05952381 TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAGGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA mutant 24 44 0.85 0.85 0.85 17 219 1 0.8 0.9 NA NA 0.9971637 0.9720196 NA NA 0.00283634 -0.1720196 NA 0.9845916 NA -0.08459163 NA FALSE NA 1 8.876 rs140321109 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FKBP4 HGNC 3720 ENST00000543037 3/4 rs140321109 1 G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 G:0.0005 G:0 AAG A,G 5.765e-05 12:2800043 FKBP4 HGNC Symbol protein_coding 10470 ENSG00000004478 ENSE00003463512 missense_variant 6.347884 0.9689 0.97751 0.706548 0.9990429 0 0.9274731 TRUE 2.03044e-05 ENSE00000713116_010 ENSE00000713116 010 12 2909157 2909326 + 48 84 38 G A 2909243 163 87 TCCTGGGAGTGTCCTTAGGACAATGACTGTTGGCTCACCTTGAAGTACACAGTGCCCCGCTCTTTCACTATGGTGCTCTGTTCTAGCTTCTCTTCTGAATTCATCTCCCAAGACTCCTTGGCCTGCCACACCCCAGGAGAGAAACAAAGTTGTCAGCTACCCCAGAGTCA 2799990 2800160 2800076 2800077 2800077 exon 39 0.4642857 TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTAGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA mutant NA NA NA NA NA 193 187 0.8 0.8 0.8 NA NA 0.9971637 0.9720196 NA NA -0.1971637 -0.1720196 NA 0.9845916 NA -0.1845916 NA FALSE NA 1 2.04 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER FKBP4 HGNC 3720 ENST00000543037 3/4 rs531078851 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 TGG G,A 3.295e-05 12:2800077 FKBP4 HGNC Symbol protein_coding 10470 ENSG00000004478 ENSE00003463512 synonymous_variant 1.043331 0.93588 0.8922 0.706548 0.7282034 0 0.9274731 TRUE 2.43643e-05 ENSE00000713116_019 ENSE00000713116 019 12 2909157 2909326 + 48 84 38 A G 2909303 172 147 TCCTGGGAGTGTCCTTAGGACAACGACTGTTGGCTCACCTTGAAGTACACAGTGCCCCGCTCTTTCACTATGGTGCTCTGTTCCAGCTTCTCTTCTGAATTCATCTCCCAAGACTCCTTGGCCTGCCACACCCCAGGAGAGAAACAAAGTTGTCAGCTACCCCAGAGTCA 2799990 2800160 2800136 2800137 2800137 downstr_intron 15 1.405405 TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCGTTGTCCTAAGGACACTCCCAGGA TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA mutant NA NA NA NA NA 266 648 0.9846716 1 0.9923358 NA NA 0.9971637 0.9720196 NA NA -0.01249207 0.02798041 NA 0.9845916 NA 0.007744167 NA FALSE NA 0 -2.074 . intron_variant&non_coding_transcript_variant MODIFIER FKBP4 HGNC 3720 ENST00000543037 3/3 rs548641957 1 NA CAT A,G 8.236e-06 12:2800137 FKBP4 HGNC Symbol protein_coding 10470 ENSG00000004478 ENSE00003463512 intron_variant 0.774056 0.25643 0.03497 0.099367 0.8479578 0.245601 0.9274731 TRUE 4.06471e-06 ENSE00000713116_020 ENSE00000713116 020 12 2909157 2909326 + 48 84 38 T C 2909304 173 148 TCCTGGGAGTGTCCTTAGGACAGTGACTGTTGGCTCACCTTGAAGTACACAGTGCCCCGCTCTTTCACTATGGTGCTCTGTTCCAGCTTCTCTTCTGAATTCATCTCCCAAGACTCCTTGGCCTGCCACACCCCAGGAGAGAAACAAAGTTGTCAGCTACCCCAGAGTCA 2799990 2800160 2800137 2800138 2800138 downstr_intron 16 1.432432 TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCACTGTCCTAAGGACACTCCCAGGA TGACTCTGGGGTAGCTGACAACTTTGTTTCTCTCCTGGGGTGTGGCAGGCCAAGGAGTCTTGGGAGATGAATTCAGAAGAGAAGCTGGAACAGAGCACCATAGTGAAAGAGCGGGGCACTGTGTACTTCAAGGTGAGCCAACAGTCATTGTCCTAAGGACACTCCCAGGA mutant NA NA NA NA NA 327 43 0.9957605 1 0.9978803 NA NA 0.9971637 0.9720196 NA NA -0.001403138 0.02798041 NA 0.9845916 NA 0.01328863 NA FALSE NA 0 -2.746 . intron_variant&non_coding_transcript_variant MODIFIER FKBP4 HGNC 3720 ENST00000543037 3/3 1 NA ATT C,C 8.236e-06 12:2800138 FKBP4 HGNC Symbol protein_coding 10470 ENSG00000004478 ENSE00003463512 intron_variant -0.021161 0.14373 0.0379 0.099367 0.6868156 0.119731 0.9274731 TRUE 4.06478e-06 ENSE00000714213_002 ENSE00000714213 002 12 4747235 4747404 - 32 96 42 T C 4747286 216 119 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCGAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 4638119 4638120 4638120 exon -20 0.8020833 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCGAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant 16 13 1 0.9977863 0.9988931 385 582 1 0.9902274 0.9951137 0.9969872 0.9986947 0.9876019 0.9244181 0.003012799 -0.0009084121 0.01239811 0.06580927 0.9978409 0.95601 0.001052194 0.03910369 0.0380515 FALSE FALSE 0.313 1.714 . missense_variant MODERATE AKAP3 HGNC 373 ENST00000540967 2/3 1 NA TTG T,C 8.236e-06 12:4638120 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 missense_variant 2.740427 0.3259 0.0884 0.554377 0.9865062 0 0.02633298 FALSE 4.06283e-06 ENSE00000714213_003 ENSE00000714213 003 12 4747235 4747404 - 32 96 42 C T 4747293 217 112 AACCTAGTGTTTATCAAGAGGTTGACCCTTACCATTTTCCAGTCCTGGGCTTGGTTGTTTCCAGGAGAATAGACATCAACTTTGCATACTCCATTTTGGCTTTGTAACCAGTCAACCTTTTCTGACATCTGGAAGCAGGGGAAAAAAATGAGAAAGGGTCATCACAAGGG 4638068 4638238 4638126 4638127 4638127 exon -27 0.7291667 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAAACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant NA NA NA NA NA 551 252 1 1 1 0.9969872 0.9986947 0.9876019 0.9244181 NA NA 0.01239811 0.07558188 0.9978409 0.95601 NA 0.04398999 NA FALSE NA 0.088 2.398 . missense_variant MODERATE AKAP3 HGNC 373 ENST00000540967 2/3 1 NA TCT C,T 8.236e-06 12:4638127 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 missense_variant 4.564361 0.98528 0.51402 0.554377 0.997925 0 0.02633298 FALSE 4.06299e-06 ENSE00000714213_006 ENSE00000714213 006 12 4747235 4747404 - 32 96 42 G A 4747301 220 104 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTTTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 4638134 4638135 4638135 exon -35 0.6458333 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTTTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant NA NA NA NA NA 77 712 0.9961976 0.997723 0.9969603 0.9969872 0.9986947 0.9876019 0.9244181 NA NA 0.008595744 0.07330488 0.9978409 0.95601 NA 0.04095031 NA FALSE NA 0.913 1.729 . missense_variant MODERATE AKAP3 HGNC 373 ENST00000540967 2/3 COSM174186 1 NA AGA G,A 8.236e-06 12:4638135 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 missense_variant 6.047831 0.98539 0.77103 0.554377 0.9981787 0 0.02633298 FALSE 1.21904e-05 ENSE00000714213_007 ENSE00000714213 007 12 4747235 4747404 - 32 96 42 G A 4747306 221 99 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTTTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 4638139 4638140 4638140 exon -40 0.59375 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTTTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant NA NA NA NA NA 149 1782 1 0.9932585 0.9966292 0.9969872 0.9986947 0.9876019 0.9244181 NA NA 0.01239811 0.06884035 0.9978409 0.95601 NA 0.04061923 NA FALSE NA 0.956 0.214 . synonymous_variant LOW AKAP3 HGNC 373 ENST00000540967 2/3 1 NA AGA G,A 8.236e-06 12:4638140 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 synonymous_variant 1.217551 0.94971 0.40284 0.554377 0.6513172 0 0.02633298 FALSE 4.06564e-06 ENSE00000714213_008 ENSE00000714213 008 12 4747235 4747404 - 32 96 42 C T 4747319 222 86 AACCTAGTGTTTATCAAGAGGTTGACCCTTACCATTTTCCAGTCCTGGGCTTGGTTGTCTCCAGGAGAATAGACATCAACTTTGTATACTCCATTTTGGCTTTGTAACCAGTCAACCTTTTCTGACATCTGGAAGCAGGGGAAAAAAATGAGAAAGGGTCATCACAAGGG 4638068 4638238 4638152 4638153 4638153 exon 44 0.4583333 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATACAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant NA NA NA NA NA 436 1251 0.9949823 0.9991087 0.9970455 0.9969872 0.9986947 0.9876019 0.9244181 NA NA 0.007380459 0.07469053 0.9978409 0.95601 NA 0.04103549 NA FALSE NA 1 3.839 rs150896332 missense_variant MODERATE AKAP3 HGNC 373 ENST00000540967 2/3 rs150896332 1 T:0.0008 T:0 T:0 NA T:0.004 T:0 T:0 GCA C,T 0.0004118 12:4638153 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 missense_variant 5.815034 0.98554 0.87123 0.554377 0.9975785 0 0.02633298 FALSE 0.000440159 ENSE00000714213_009 ENSE00000714213 009 12 4747235 4747404 - 32 96 42 C G 4747323 223 82 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGACTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 4638156 4638157 4638157 exon 40 0.4166667 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGACTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant 35 23 1 1 1 1205 398 0.9991775 1 0.9995887 0.9969872 0.9986947 0.9876019 0.9244181 0.003012799 0.001305331 0.01157556 0.07558188 0.9978409 0.95601 0.002159065 0.04357872 0.04141965 FALSE FALSE 1 1.655 . missense_variant MODERATE AKAP3 HGNC 373 ENST00000540967 2/3 rs376639794 1 NA G:0 G:0.0001 ACT C,G 8.236e-06 12:4638157 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 missense_variant 4.479191 0.97679 0.65522 0.554377 0.9974479 0 0.02633298 FALSE 4.08323e-06 ENSE00000714213_010 ENSE00000714213 010 12 4747235 4747404 - 32 96 42 C A 4747326 224 79 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATTGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 4638159 4638160 4638160 exon 37 0.3854167 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATTGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant NA NA NA NA NA 11 23 1 0.8214985 0.9107493 0.9969872 0.9986947 0.9876019 0.9244181 NA NA 0.01239811 -0.1029196 0.9978409 0.95601 NA -0.04526074 NA FALSE NA 1 3.839 . stop_gained HIGH AKAP3 HGNC 373 ENST00000540967 2/3 rs570803135&COSM468394&COSM1135378 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 HC CCA C,A 8.236e-06 12:4638160 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 stop_gained 10.80195 0.98609 0.89547 0.554377 0.9940401 0 0.02633298 FALSE 4.0847e-06 ENSE00000714213_011 ENSE00000714213 011 12 4747235 4747404 - 32 96 42 A G 4747327 225 78 AACCTAGTGTTTATCAAGAGGTTGACCCTTACCATTTTCCAGTCCTGGGCTTGGTTGTCTCCAGGAGAATAGACATCAACTTTGCATACTCCGTTTTGGCTTTGTAACCAGTCAACCTTTTCTGACATCTGGAAGCAGGGGAAAAAAATGAGAAAGGGTCATCACAAGGG 4638068 4638238 4638160 4638161 4638161 exon 36 0.375 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAACGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant NA NA NA NA NA 13 308 1 0.9986291 0.9993146 0.9969872 0.9986947 0.9876019 0.9244181 NA NA 0.01239811 0.07421102 0.9978409 0.95601 NA 0.04330456 NA FALSE NA 0.932 0.659 . synonymous_variant LOW AKAP3 HGNC 373 ENST00000540967 2/3 1 NA CAT A,G 1.647e-05 12:4638161 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 synonymous_variant 0.047433 0.97457 0.63809 0.554377 0.8054245 0 0.02633298 FALSE 1.22593e-05 ENSE00000714213_015 ENSE00000714213 015 12 4747235 4747404 - 32 96 42 A G 4747377 229 28 AACCTAGTGTTTATCAAGAGGTTGACCCTTACCATTTTCCAGTCCTGGGCTTGGTTGTCTCCAGGAGAATAGACATCAACTTTGCATACTCCATTTTGGCTTTGTAACCAGTCAACCTTTTCTGACATCTGGAAGCAGGGGAGAAAAATGAGAAAGGGTCATCACAAGGG 4638068 4638238 4638210 4638211 4638211 upstr_intron -15 -0.3333333 CCCTTGTGATGACCCTTTCTCATTTTTCTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant NA NA NA NA NA 378 132 0.9946872 0.9694523 0.9820697 0.9969872 0.9986947 0.9876019 0.9244181 NA NA 0.007085316 0.04503416 0.9978409 0.95601 NA 0.02605974 NA FALSE NA 0.421 1.369 . intron_variant MODIFIER AKAP3 HGNC 373 ENST00000540967 1/2 1 NA AAA A,G 8.237e-06 12:4638211 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 intron_variant -0.040458 0.2086 0.14847 0.053691 0.5357291 0.104326 0.02633298 FALSE NA ENSE00000714213_016 ENSE00000714213 016 12 4747235 4747404 - 32 96 42 T G 4747393 230 12 CCCTTGTGATGCCCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 4638226 4638227 4638227 upstr_intron -31 -0.7142857 CCCTTGTGATGCCCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant NA NA NA NA NA 67 111 0.9454989 0.9797297 0.9626143 0.9969872 0.9986947 0.9876019 0.9244181 NA NA -0.04210296 0.05531154 0.9978409 0.95601 NA 0.00660429 NA FALSE NA 0.014 0.751 . intron_variant MODIFIER AKAP3 HGNC 373 ENST00000540967 1/2 1 NA GTC T,G 3.295e-05 12:4638227 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 intron_variant 0.789668 0.38582 0.31434 0.053691 0.7241039 0.611137 0.02633298 FALSE 2.2288e-05 ENSE00000716285_001 ENSE00000716285 001 12 7087729 7087898 - 36 87 47 C G 7087752 496 147 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAACTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978589 6978590 6978590 downstr_intron 13 1.371429 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAACTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 23 70 0.9457012 0.8341951 0.8899481 NA NA NA NA NA 0.8480258 0.784082 0.8403327 0.8886904 0.09767538 0.05011311 NA NA 0.8160539 0.8645116 0.07389425 NA NA NA FALSE 0 0.157 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA ACT C,G 8.236e-06 12:6978590 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 3_prime_UTR_variant 0.445541 0.47013 0.47987 0.283894 0.7287153 0.146484 0.9806788 TRUE 4.06382e-06 ENSE00000716285_002 ENSE00000716285 002 12 7087729 7087898 - 36 87 47 T C 7087758 497 141 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTGGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978595 6978596 6978596 downstr_intron 7 1.2 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTGGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant NA NA NA NA NA 320 222 0.03767015 0.001650608 0.01966038 0.8480258 0.784082 0.8403327 0.8886904 NA NA -0.8026626 -0.8870398 0.8160539 0.8645116 NA -0.8448512 NA TRUE NA 0.397 0.638 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA CTA T,C 8.236e-06 12:6978596 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 splice_region_variant 0.179479 0.37857 0.41738 0.256867 0.6433299 0.207729 0.9806788 TRUE 8.1244e-06 ENSE00000716285_003 ENSE00000716285 003 12 7087729 7087898 - 36 87 47 G A 7087780 498 119 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACTTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978617 6978618 6978618 exon -16 0.8275862 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACTTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 86 61 0 0 0 NA NA NA NA NA 0.8480258 0.784082 0.8403327 0.8886904 -0.8480258 -0.784082 NA NA 0.8160539 0.8645116 -0.8160539 NA NA NA TRUE 1 2.038 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA AGG G,A 2.471e-05 12:6978618 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 synonymous_variant 2.117127 0.95108 0.94765 0.67177 0.8029757 0 0.9806788 TRUE 3.24923e-05 ENSE00000716285_004 ENSE00000716285 004 12 7087729 7087898 - 36 87 47 G T 7087792 499 107 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTAAAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978629 6978630 6978630 exon -28 0.6896552 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTAAAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 89 183 0.85 0.85 0.85 NA NA NA NA NA 0.8480258 0.784082 0.8403327 0.8886904 0.001974195 0.065918 NA NA 0.8160539 0.8645116 0.0339461 NA NA NA FALSE 1 2.7 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA TGT G,T 1.647e-05 12:6978630 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 stop_gained 13.09272 0.96935 0.98264 0.67177 0.9970082 0 0.9806788 TRUE 8.12189e-06 ENSE00000716285_005 ENSE00000716285 005 12 7087729 7087898 - 36 87 47 C T 7087795 500 104 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTATACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978632 6978633 6978633 exon -31 0.6551724 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTATACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 43 51 0 0 0 NA NA NA NA NA 0.8480258 0.784082 0.8403327 0.8886904 -0.8480258 -0.784082 NA NA 0.8160539 0.8645116 -0.8160539 NA NA NA TRUE 1 0.869 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA ACA C,T 8.236e-06 12:6978633 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 synonymous_variant 2.097664 0.94799 0.9257 0.67177 0.7203227 0 0.9806788 TRUE 4.06111e-06 ENSE00000716285_006 ENSE00000716285 006 12 7087729 7087898 - 36 87 47 A C 7087812 501 87 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCGGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978649 6978650 6978650 exon 40 0.4597701 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCGGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 67 59 0.85 0.9007648 0.8753824 192 560 0.788977 0.8280474 0.8085122 0.8480258 0.784082 0.8403327 0.8886904 0.001974195 0.1166828 -0.05135575 -0.06064297 0.8160539 0.8645116 0.05932848 -0.05599936 0.1153278 FALSE FALSE 1 8.833 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA CAG A,C 8.236e-06 12:6978650 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 missense_variant 6.348949 0.98418 0.99693 0.67177 0.9807487 0 0.9806788 TRUE 4.06128e-06 ENSE00000716285_008 ENSE00000716285 008 12 7087729 7087898 - 36 87 47 A G 7087824 503 75 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGCACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978661 6978662 6978662 exon 28 0.3218391 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGCACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 10 25 0.85 0.85 0.85 NA NA NA NA NA 0.8480258 0.784082 0.8403327 0.8886904 0.001974195 0.065918 NA NA 0.8160539 0.8645116 0.0339461 NA NA NA FALSE 1 8.833 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA TAC A,G 1.647e-05 12:6978662 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 missense_variant 5.271394 0.98388 0.99664 0.67177 0.9985943 0 0.9806788 TRUE 1.21847e-05 ENSE00000716285_009 ENSE00000716285 009 12 7087729 7087898 - 36 87 47 C T 7087825 504 74 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATATACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978662 6978663 6978663 exon 27 0.3103448 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATATACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 21 56 0.85 0.85 0.85 28 239 0.8 0.8427563 0.8213782 0.8480258 0.784082 0.8403327 0.8886904 0.001974195 0.065918 -0.04033274 -0.04593411 0.8160539 0.8645116 0.0339461 -0.04313342 0.07707952 FALSE FALSE 1 0.933 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA ACA C,T 8.236e-06 12:6978663 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 missense_variant 2.948217 0.95292 0.95626 0.67177 0.9610955 0 0.9806788 TRUE 8.12315e-06 ENSE00000716285_010 ENSE00000716285 010 12 7087729 7087898 - 36 87 47 A C 7087826 505 73 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCAGGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978663 6978664 6978664 exon 26 0.2988506 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCAGGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant NA NA NA NA NA 21 146 0.8 0.9050691 0.8525346 0.8480258 0.784082 0.8403327 0.8886904 NA NA -0.04033274 0.0163787 0.8160539 0.8645116 NA -0.01197702 NA FALSE NA 1 4.051 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA CAT A,C 8.236e-06 12:6978664 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 missense_variant 2.587784 0.96723 0.97558 0.67177 0.9415902 0 0.9806788 TRUE 4.06138e-06 ENSE00000716285_011 ENSE00000716285 011 12 7087729 7087898 - 36 87 47 C G 7087829 506 70 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTCCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978666 6978667 6978667 exon 23 0.2643678 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTCCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 17 20 0.2120063 0.1010943 0.1565503 NA NA NA NA NA 0.8480258 0.784082 0.8403327 0.8886904 -0.6360195 -0.6829877 NA NA 0.8160539 0.8645116 -0.6595036 NA NA NA TRUE 1 7.379 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA GCA C,G 8.237e-06 12:6978667 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 missense_variant 5.037772 0.98663 0.99594 0.67177 0.992025 0 0.9806788 TRUE 1.21855e-05 ENSE00000716285_012 ENSE00000716285 012 12 7087729 7087898 - 36 87 47 G A 7087833 507 66 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCTGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978670 6978671 6978671 exon 19 0.2183908 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCTGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant NA NA NA NA NA 299 59 0 0.008637967 0.004318983 0.8480258 0.784082 0.8403327 0.8886904 NA NA -0.8403327 -0.8800524 0.8160539 0.8645116 NA -0.8601926 NA TRUE NA 1 7.185 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA CGG G,A 8.236e-06 12:6978671 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 missense_variant 8.106576 0.97812 0.99195 0.67177 0.9992118 0 0.9806788 TRUE 4.0627e-06 ENSE00000716285_015 ENSE00000716285 015 12 7087729 7087898 - 36 87 47 G A 7087871 510 28 GCCTAGTCATGTGATATCCCTAATGCATTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978708 6978709 6978709 upstr_intron -20 -0.4042553 GCCTAGTCATGTGATATCCCTAATGCATTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant NA NA NA NA NA 836 661 0.9122897 0.7925135 0.8524016 0.8480258 0.784082 0.8403327 0.8886904 NA NA 0.07195698 -0.09617689 0.8160539 0.8645116 NA -0.01210996 NA FALSE NA 0 -0.38 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA AGT G,A 8.236e-06 12:6978709 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 3_prime_UTR_variant 0.174748 0.30241 0.11098 0.283894 0.6684242 0.0839528 0.9806788 TRUE 1.63698e-05 ENSE00000716285_016 ENSE00000716285 016 12 7087729 7087898 - 36 87 47 A C 7087875 511 24 GCCTAGTCATGTGATATCCCTAAGGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978712 6978713 6978713 upstr_intron -24 -0.4893617 GCCTAGTCATGTGATATCCCTAAGGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant NA NA NA NA NA 86 956 0 0.007259955 0.003629977 0.8480258 0.784082 0.8403327 0.8886904 NA NA -0.8403327 -0.8814305 0.8160539 0.8645116 NA -0.8608816 NA TRUE NA 0 -1.555 . downstream_gene_variant MODIFIER LPCAT3 HGNC 30244 ENST00000540060 1 NA CAT A,C 8.236e-06 12:6978713 LPCAT3 HGNC Symbol protein_coding 42324 ENSG00000111684 ENSE00003491007 3_prime_UTR_variant -0.028421 0.31281 0.47541 0.283894 0.6744875 0.104731 0.9806788 TRUE 4.0944e-06 ENSE00000717752_005 ENSE00000717752 005 19 48630490 48630659 - 44 72 54 C T 48630563 2820 97 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACACCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127305 48127306 48127306 exon -30 0.5972222 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACACCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 121 42 1 0.8291902 0.9145951 0.9214837 0.9341219 0.9593554 0.9878343 NA NA 0.04064457 -0.1586441 0.9278028 0.9735949 NA -0.05899975 NA FALSE NA 1 6.53 . missense_variant MODERATE LIG1 HGNC 6598 ENST00000536218 19/26 1 deleterious(0.01) probably_damaging(0.951) NA GCG C,T 1.647e-05 19:48127306 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 missense_variant 6.648656 0.99129 0.97475 0.722319 0.9992998 0 0.0177051 FALSE 2.03298e-05 ENSE00000717752_008 ENSE00000717752 008 19 48630490 48630659 - 44 72 54 T G 48630589 2823 71 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGCGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127331 48127332 48127332 exon 17 0.2361111 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGCGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 24 376 0.9520347 1 0.9760174 0.9214837 0.9341219 0.9593554 0.9878343 NA NA -0.00732071 0.0121657 0.9278028 0.9735949 NA 0.002422494 NA FALSE NA 1 3.98 . missense_variant MODERATE LIG1 HGNC 6598 ENST00000536218 19/26 1 deleterious(0.04) benign(0.023) NA CTC T,G 2.471e-05 19:48127332 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 missense_variant 4.081275 0.99219 0.96509 0.722319 0.9928223 0 0.0177051 FALSE 2.03545e-05 ENSE00000717752_009 ENSE00000717752 009 19 48630490 48630659 - 44 72 54 C T 48630594 2824 66 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCATCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127336 48127337 48127337 exon 12 0.1666667 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCATCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 20 164 0.8 0.8428148 0.8214074 0.9214837 0.9341219 0.9593554 0.9878343 NA NA -0.1593554 -0.1450195 0.9278028 0.9735949 NA -0.1521875 NA FALSE NA 0 -6.091 rs143842035 synonymous_variant LOW LIG1 HGNC 6598 ENST00000536218 19/26 rs143842035 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0002 T:0.0005 ACG C,T 0.0003047 19:48127337 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 synonymous_variant 1.439446 0.05161 0.00491 0.722319 0.3700251 0 0.0177051 FALSE 0.000256651 ENSE00000717752_010 ENSE00000717752 010 19 48630490 48630659 - 44 72 54 G A 48630595 2825 65 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGTGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127337 48127338 48127338 exon 11 0.1527778 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGTGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 335 23 0.8749111 0.9930607 0.9339859 0.9214837 0.9341219 0.9593554 0.9878343 NA NA -0.08444438 0.005226412 0.9278028 0.9735949 NA -0.03960898 NA FALSE NA 1 6.354 rs151010868 missense_variant MODERATE LIG1 HGNC 6598 ENST00000536218 19/26 rs151010868 1 tolerated(0.21) benign(0.004) NA A:0.0002 A:0 CGC G,A 8.236e-05 19:48127338 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 missense_variant 2.537057 0.97444 0.96414 0.722319 0.9688172 0 0.0177051 FALSE 6.11436e-05 ENSE00000717752_011 ENSE00000717752 011 19 48630490 48630659 - 44 72 54 C T 48630599 2826 61 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGAATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127341 48127342 48127342 exon 7 0.09722222 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGAATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 152 104 1 0.9981052 0.9990526 0.9214837 0.9341219 0.9593554 0.9878343 NA NA 0.04064457 0.01027092 0.9278028 0.9735949 NA 0.02545774 NA FALSE NA 1 6.53 rs56105837 missense_variant MODERATE LIG1 HGNC 6598 ENST00000536218 19/26 rs56105837 1 tolerated(0.3) benign(0.021) T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0005 T:0.0001 TCC C,T 9.884e-05 19:48127342 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 missense_variant 2.947037 0.9934 0.98223 0.722319 0.9939448 0 0.0177051 FALSE 6.92972e-05 ENSE00000717752_012 ENSE00000717752 012 19 48630490 48630659 - 44 72 54 T C 48630611 2827 49 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAGCCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127353 48127354 48127354 upstr_intron -6 -0.09259259 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAGCCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 12 54 0.9446034 1 0.9723017 0.9214837 0.9341219 0.9593554 0.9878343 NA NA -0.01475207 0.0121657 0.9278028 0.9735949 NA -0.001293189 NA FALSE NA 0.001 0.353 . splice_region_variant&intron_variant LOW LIG1 HGNC 6598 ENST00000536218 18/25 1 NA GTT T,C 8.236e-06 19:48127354 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 splice_region_variant 0.356472 0.26847 0.06912 0.115753 0.5611689 0.109359 0.0177051 FALSE 4.0858e-06 ENSE00000717752_013 ENSE00000717752 013 19 48630490 48630659 - 44 72 54 G A 48630613 2828 47 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCTAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127355 48127356 48127356 upstr_intron -8 -0.1296296 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCTAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 378 504 1 0.9996861 0.999843 0.9214837 0.9341219 0.9593554 0.9878343 NA NA 0.04064457 0.01185177 0.9278028 0.9735949 NA 0.02624817 NA FALSE NA 0 -0.318 . splice_region_variant&intron_variant LOW LIG1 HGNC 6598 ENST00000536218 18/25 1 NA TGG G,A 1.647e-05 19:48127356 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 splice_region_variant 0.347738 0.22068 0.05808 0.069865 0.6848028 0.163673 0.0177051 FALSE 1.22749e-05 ENSE00000717752_015 ENSE00000717752 015 19 48630490 48630659 - 44 72 54 C T 48630622 2830 38 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCATTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127364 48127365 48127365 upstr_intron -17 -0.2962963 CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCATTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 171 22 0.9643236 1 0.9821618 0.9214837 0.9341219 0.9593554 0.9878343 NA NA 0.004968185 0.0121657 0.9278028 0.9735949 NA 0.008566941 NA FALSE NA 0 -1.887 . intron_variant MODIFIER LIG1 HGNC 6598 ENST00000536218 18/25 1 NA ACG C,T 8.236e-06 19:48127365 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 non_coding_transcript_exon_variant 0.252673 0.12321 0.00376 0.069865 0.491239 0.046875 0.0177051 FALSE 8.20762e-06 ENSE00000717752_019 ENSE00000717752 019 19 48630490 48630659 - 44 72 54 G A 48630630 2834 30 CAGTGCCCCGTCTCACCTTCCTGCACTCATGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG 48127232 48127402 48127372 48127373 48127373 upstr_intron -25 -0.4444444 CAGTGCCCCGTCTCACCTTCCTGCACTCATGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG CAGTGCCCCGTCTCACCTTCCTGCACTCACGAACTCCGTTGTGCCCCAACCCAGGAGGTGGATGCGTCTGAGATCCAGGTGCAGGTGTGTTTGTACGCCTTCGACCTCATCTACCTCAATGGAGAGGTGAGTTCCAGCTTCCTGTCCAGGGGCAGCTGAGGGGTGACGGG mutant NA NA NA NA NA 255 350 1 0.9972345 0.9986172 0.9214837 0.9341219 0.9593554 0.9878343 NA NA 0.04064457 0.00940018 0.9278028 0.9735949 NA 0.02502237 NA FALSE NA 0 -0.64 . intron_variant MODIFIER LIG1 HGNC 6598 ENST00000536218 18/25 rs112824402 1 NA C:0 C:0.0001 CGT A,A 1.647e-05 19:48127373 LIG1 HGNC Symbol protein_coding 55158 ENSG00000105486 ENSE00003473795 non_coding_transcript_exon_variant -0.419124 0.07463 0.00076 0.069865 0.7396501 0.046875 0.0177051 FALSE 2.06167e-05 ENSE00000721401_007 ENSE00000721401 007 10 102733245 102733414 + 59 63 48 C G 102733309 2368 65 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCAGTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 100973551 100973552 100973552 exon 6 0.0952381 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCAGTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA mutant NA NA NA NA NA 230 215 0.9908891 0.9906291 0.9907591 0.85 0.85 0.9506682 0.9207448 NA NA 0.04022094 0.06988422 0.85 0.9357065 NA 0.05505258 NA FALSE NA 0 -0.139 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEMA4G HGNC 10735 ENST00000519756 3/7 1 NA ACT C,G 3.295e-05 10:100973552 SEMA4G HGNC Symbol protein_coding 16353 ENSG00000095539 ENSE00003534396 missense_variant 1.022936 0.85266 0.35589 0.646311 0.8473111 0 0.0008022351 FALSE 2.04905e-05 ENSE00000721401_011 ENSE00000721401 011 10 102733245 102733414 + 59 63 48 T C 102733342 2372 98 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGCCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 100973584 100973585 100973585 exon -25 0.6190476 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGCCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA mutant 30 118 0.8315103 0.85 0.8407551 NA NA NA NA NA 0.85 0.85 0.9506682 0.9207448 -0.01848973 0 NA NA 0.85 0.9357065 -0.009244863 NA NA NA FALSE 0 -0.159 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEMA4G HGNC 10735 ENST00000519756 3/7 1 NA GTC T,C 8.236e-06 10:100973585 SEMA4G HGNC Symbol protein_coding 16353 ENSG00000095539 ENSE00003534396 synonymous_variant 0.053453 0.86778 0.50019 0.646311 0.7889835 0 0.0008022351 FALSE 4.09682e-06 ENSE00000721401_012 ENSE00000721401 012 10 102733245 102733414 + 59 63 48 A C 102733347 2373 103 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCCAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 100973589 100973590 100973590 exon -20 0.6984127 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCCAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA mutant NA NA NA NA NA 804 98 0.9518337 0.9404816 0.9461577 0.85 0.85 0.9506682 0.9207448 NA NA 0.001165551 0.01973673 0.85 0.9357065 NA 0.01045114 NA FALSE NA 0.13 2.779 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEMA4G HGNC 10735 ENST00000519756 3/7 1 NA CAA A,C 8.236e-06 10:100973590 SEMA4G HGNC Symbol protein_coding 16353 ENSG00000095539 ENSE00003534396 missense_variant 3.038428 0.85962 0.89716 0.646311 0.982289 0 0.0008022351 FALSE 4.09802e-06 ENSE00000721401_013 ENSE00000721401 013 10 102733245 102733414 + 59 63 48 A C 102733348 2374 104 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCACAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 100973590 100973591 100973591 exon -19 0.7142857 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCACAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA mutant NA NA NA NA NA 331 263 0.9762978 0.9848761 0.980587 0.85 0.85 0.9506682 0.9207448 NA NA 0.02562963 0.06413126 0.85 0.9357065 NA 0.04488045 NA FALSE NA 0.13 0.005 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEMA4G HGNC 10735 ENST00000519756 3/7 rs368462093 1 NA C:0 C:0.0003 AAA A,C 8.236e-05 10:100973591 SEMA4G HGNC Symbol protein_coding 16353 ENSG00000095539 ENSE00003534396 missense_variant 2.761064 0.80817 0.59373 0.646311 0.986326 0 0.0008022351 FALSE 7.37626e-05 ENSE00000721401_014 ENSE00000721401 014 10 102733245 102733414 + 59 63 48 A C 102733362 2375 118 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACACCCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 100973604 100973605 100973605 exon -5 0.9365079 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACACCCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA mutant NA NA NA NA NA 142 25 0.8 0.8 0.8 0.85 0.85 0.9506682 0.9207448 NA NA -0.1506682 -0.1207448 0.85 0.9357065 NA -0.1357065 NA FALSE NA 1 6.814 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEMA4G HGNC 10735 ENST00000519756 3/7 1 NA AAC A,C 8.236e-06 10:100973605 SEMA4G HGNC Symbol protein_coding 16353 ENSG00000095539 ENSE00003534396 missense_variant 6.044983 0.95411 0.98043 0.615465 0.9947239 0 0.0008022351 FALSE 4.10018e-06 ENSE00000721401_015 ENSE00000721401 015 10 102733245 102733414 + 59 63 48 C T 102733376 2376 132 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTTTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 100973618 100973619 100973619 downstr_intron 10 1.212766 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTTTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA mutant NA NA NA NA NA 57 155 0.9100291 0.95 0.9300145 0.85 0.85 0.9506682 0.9207448 NA NA -0.04063914 0.02925517 0.85 0.9357065 NA -0.005691986 NA FALSE NA 0 0.637 . intron_variant&non_coding_transcript_variant MODIFIER SEMA4G HGNC 10735 ENST00000519756 3/6 1 NA TCT C,T 8.236e-06 10:100973619 SEMA4G HGNC Symbol protein_coding 16353 ENSG00000095539 ENSE00003534396 intron_variant 2.078648 0.21931 0.11669 0.056701 0.6987233 0.466721 0.0008022351 FALSE 8.21234e-06 ENSE00000721401_017 ENSE00000721401 017 10 102733245 102733414 + 59 63 48 C A 102733380 2378 136 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCACTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 100973622 100973623 100973623 downstr_intron 14 1.297872 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCACTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA mutant 13 51 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.85 0.9506682 0.9207448 0 1.110223e-16 NA NA 0.85 0.9357065 5.551115e-17 NA NA NA FALSE 0 0.051 . intron_variant&non_coding_transcript_variant MODIFIER SEMA4G HGNC 10735 ENST00000519756 3/6 1 NA CCC C,A 8.236e-06 10:100973623 SEMA4G HGNC Symbol protein_coding 16353 ENSG00000095539 ENSE00003534396 intron_variant 1.894334 0.29492 0.25144 0.056701 0.6950051 0.892976 0.0008022351 FALSE 4.10772e-06 ENSE00000742937_001 ENSE00000742937 001 17 66431728 66431897 - 33 93 44 T C 66431742 2880 156 CCCAGACAGAGGTGCTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435600 68435601 68435601 downstr_intron 19 1.59375 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAGCACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 27 58 0.85 0.85 0.85 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 0.01896198 0.004220161 NA NA 0.8384089 0.8564313 0.01159107 NA NA NA FALSE 0 -0.827 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 rs368821170 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 GTT T,C 1.647e-05 17:68435601 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 intron_variant 0.007091 0.13623 0.03339 0.156188 0.3204146 0.046875 0.5235005 FALSE 1.21856e-05 ENSE00000742937_002 ENSE00000742937 002 17 66431728 66431897 - 33 93 44 G A 66431749 2881 149 CCCAGACAGAGGTGTTGGTGGAAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435607 68435608 68435608 downstr_intron 12 1.375 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTTCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 19 13 0.85 0.85 0.85 146 51 0.9189245 0.8227818 0.8708532 0.831038 0.8457798 0.8792763 0.8335864 0.01896198 0.004220161 0.03964826 -0.0108046 0.8384089 0.8564313 0.01159107 0.01442183 0.00283076 FALSE FALSE 0 -0.069 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA GGA G,A 8.236e-06 17:68435608 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 intron_variant 0.580949 0.14511 0.12449 0.156188 0.5730146 0.046875 0.5235005 FALSE 4.06138e-06 ENSE00000742937_003 ENSE00000742937 003 17 66431728 66431897 - 33 93 44 A G 66431755 2882 143 CCCAGACAGAGGTGTTGGTGGGAGTGGGCTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435613 68435614 68435614 downstr_intron 6 1.1875 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGCCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 55 42 0.02372839 0 0.01186419 31 85 0 0 0 0.831038 0.8457798 0.8792763 0.8335864 -0.8073096 -0.8457798 -0.8792763 -0.8335864 0.8384089 0.8564313 -0.8265447 -0.8564313 0.0298866 TRUE TRUE 0.507 0.306 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA GAC A,G 8.236e-06 17:68435614 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 splice_region_variant 1.126039 0.87857 0.25051 0.156188 0.8353409 0.294658 0.5235005 FALSE 4.06128e-06 ENSE00000742937_004 ENSE00000742937 004 17 66431728 66431897 - 33 93 44 C T 66431770 2883 128 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGATGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435628 68435629 68435629 exon -10 0.9032258 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCATCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 31 17 0.8321136 0.85 0.8410568 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 0.001075611 0.004220161 NA NA 0.8384089 0.8564313 0.002647886 NA NA NA FALSE 0 -3.273 rs147761920 upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 rs147761920 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACG C,T 4.942e-05 17:68435629 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 synonymous_variant 1.452457 0.06439 0.05096 0.706298 0.449013 0 0.5235005 FALSE 7.31054e-05 ENSE00000742937_005 ENSE00000742937 005 17 66431728 66431897 - 33 93 44 G A 66431771 2884 127 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACACACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435629 68435630 68435630 exon -11 0.8924731 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGTGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 46 276 0.02831597 0.009455378 0.01888568 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 -0.802722 -0.8363245 NA NA 0.8384089 0.8564313 -0.8195233 NA NA NA TRUE 1 8.959 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 rs371498242&COSM194007 1 NA A:0 A:0.0002 CGC G,A 4.942e-05 17:68435630 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 missense_variant 6.306847 0.95503 0.9752 0.706298 0.9989993 0 0.5235005 FALSE 4.06121e-05 ENSE00000742937_006 ENSE00000742937 006 17 66431728 66431897 - 33 93 44 G A 66431785 2885 113 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTAGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435643 68435644 68435644 exon -25 0.7419355 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCTAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 27 42 0.85 0.85 0.85 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 0.01896198 0.004220161 NA NA 0.8384089 0.8564313 0.01159107 NA NA NA FALSE 0.971 0.001 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA TGG G,A 8.236e-06 17:68435644 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 synonymous_variant 0.786985 0.85803 0.77917 0.706298 0.4824533 0 0.5235005 FALSE 4.06101e-06 ENSE00000742937_007 ENSE00000742937 007 17 66431728 66431897 - 33 93 44 C G 66431790 2886 108 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCGTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435648 68435649 68435649 exon -30 0.688172 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCACGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 97 50 0.7728687 0.85 0.8114344 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 -0.05816931 0.004220161 NA NA 0.8384089 0.8564313 -0.02697458 NA NA NA FALSE 1 7.062 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA CCT C,G 8.236e-06 17:68435649 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 missense_variant 6.031521 0.95231 0.97375 0.706298 0.9993301 0 0.5235005 FALSE NA ENSE00000742937_008 ENSE00000742937 008 17 66431728 66431897 - 33 93 44 T A 66431791 2887 107 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCTGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG 68435586 68435756 68435649 68435650 68435650 exon -31 0.6774194 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCTGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 81 48 0.8083012 0.908048 0.8581746 2642 13 1 0.9261676 0.9630838 0.831038 0.8457798 0.8792763 0.8335864 -0.02273686 0.06226819 0.1207237 0.09258119 0.8384089 0.8564313 0.01976566 0.1066525 0.08688679 FALSE FALSE 0 -5.591 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA CTG T,A 8.236e-06 17:68435650 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 synonymous_variant 0.364282 0.09317 0.06967 0.706298 0.3533805 0 0.5235005 FALSE 4.06105e-06 ENSE00000742937_010 ENSE00000742937 010 17 66431728 66431897 - 33 93 44 G A 66431810 2889 88 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGACAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435668 68435669 68435669 exon 44 0.4731183 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGTCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 32 30 0.85 0.85 0.85 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 0.01896198 0.004220161 NA NA 0.8384089 0.8564313 0.01159107 NA NA NA FALSE 1 8.959 rs114863072 upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 rs114863072 1 A:0.0028 A:0.0098 A:0.0014 NA A:0 A:0 A:0 A:0.007 A:0.0001 GGC G,A 0.0005765 17:68435669 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 missense_variant 6.427865 0.95135 0.97747 0.706298 0.9990134 0 0.5235005 FALSE 0.000475154 ENSE00000742937_013 ENSE00000742937 013 17 66431728 66431897 - 33 93 44 C T 66431822 2892 76 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTTCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435680 68435681 68435681 exon 32 0.344086 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGAAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 84 129 0.85 0.85 0.85 40 202 0.8 0.9813779 0.8906889 0.831038 0.8457798 0.8792763 0.8335864 0.01896198 0.004220161 -0.07927628 0.1477915 0.8384089 0.8564313 0.01159107 0.03425761 0.02266654 FALSE FALSE 1 5.32 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA TCC C,T 6.589e-05 17:68435681 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 missense_variant 6.455621 0.9505 0.95936 0.706298 0.9960422 0 0.5235005 FALSE 4.87318e-05 ENSE00000742937_014 ENSE00000742937 014 17 66431728 66431897 - 33 93 44 C T 66431824 2893 74 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCTTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435682 68435683 68435683 exon 30 0.3225806 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAAGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 56 62 0.8401496 0.85 0.8450748 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 0.009111561 0.004220161 NA NA 0.8384089 0.8564313 0.006665861 NA NA NA FALSE 0.652 -0.281 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA CCT C,T 8.236e-06 17:68435683 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 synonymous_variant 1.526841 0.84523 0.55665 0.706298 0.3640665 0 0.5235005 FALSE 4.06081e-06 ENSE00000742937_017 ENSE00000742937 017 17 66431728 66431897 - 33 93 44 A G 66431837 2896 61 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAGTAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435695 68435696 68435696 exon 17 0.1827957 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTACTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant NA NA NA NA NA 45 168 1 0.9732842 0.9866421 0.831038 0.8457798 0.8792763 0.8335864 NA NA 0.1207237 0.1396978 0.8384089 0.8564313 NA 0.1302108 NA FALSE NA 1 8.112 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA AAT A,G 8.236e-06 17:68435696 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 missense_variant 5.994678 0.87975 0.98267 0.706298 0.9973319 0 0.5235005 FALSE 4.06091e-06 ENSE00000742937_018 ENSE00000742937 018 17 66431728 66431897 - 33 93 44 T C 66431857 2897 41 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGCTGGTGAAAAGGAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435715 68435716 68435716 upstr_intron -4 -0.06818182 CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAGCAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 25 42 0.0515887 0.01556805 0.03357837 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 -0.7794493 -0.8302118 NA NA 0.8384089 0.8564313 -0.8048306 NA NA NA TRUE 0.961 0.821 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA GTT T,C 8.236e-06 17:68435716 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 splice_region_variant 1.406458 0.84677 0.71141 0.099367 0.8483091 0.528455 0.5235005 FALSE 4.06151e-06 ENSE00000742937_020 ENSE00000742937 020 17 66431728 66431897 - 33 93 44 G A 66431868 2899 30 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGAAAAAATGGATACAGATGCTGCGGAGGAGG 68435586 68435756 68435726 68435727 68435727 upstr_intron -15 -0.3181818 CCTCCTCCGCAGCATCTGTATCCATTTTTTCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 26 78 0.85 0.85 0.85 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 0.01896198 0.004220161 NA NA 0.8384089 0.8564313 0.01159107 NA NA NA FALSE 0 -0.12 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA GGA G,A 8.236e-06 17:68435727 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 intron_variant 1.68965 0.14701 0.09343 0.099367 0.7345728 0.192644 0.5235005 FALSE 4.06312e-06 ENSE00000742937_023 ENSE00000742937 023 17 66431728 66431897 - 33 93 44 T A 66431884 2902 14 CCTCCTCCGCAGCTTCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG 68435586 68435756 68435742 68435743 68435743 upstr_intron -31 -0.6818182 CCTCCTCCGCAGCTTCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 62 88 0.85 0.85 0.85 206 93 0.9588553 0.9565333 0.9576943 0.831038 0.8457798 0.8792763 0.8335864 0.01896198 0.004220161 0.07957902 0.122947 0.8384089 0.8564313 0.01159107 0.101263 0.08967192 FALSE FALSE 0 -1.823 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA ATG T,A 8.236e-06 17:68435743 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 intron_variant 0.08434 0.10432 0.09503 0.099367 0.6145963 0.0833639 0.5235005 FALSE 4.06468e-06 ENSE00000742937_024 ENSE00000742937 024 17 66431728 66431897 - 33 93 44 T C 66431887 2903 11 CCCAGACAGAGGTGTTGGTGGGAGTGGACTCACTTTTTCAGACGCACTTGCTAGTTTGGAGCCTGAGGCATTGAAGGTGATGGCAGCTAGTGTTCCCTCATGGGCAGCAATAGTGCAGACTGTTTTCTGTTGGTGAAAAGGAAAAATGGATACAGATGCCGCGGAGGAGG 68435586 68435756 68435745 68435746 68435746 upstr_intron -34 -0.75 CCTCCTCCGCGGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG CCTCCTCCGCAGCATCTGTATCCATTTTTCCTTTTCACCAACAGAAAACAGTCTGCACTATTGCTGCCCATGAGGGAACACTAGCTGCCATCACCTTCAATGCCTCAGGCTCCAAACTAGCAAGTGCGTCTGAAAAAGTGAGTCCACTCCCACCAACACCTCTGTCTGGG mutant 70 134 0.85 0.85 0.85 NA NA NA NA NA 0.831038 0.8457798 0.8792763 0.8335864 0.01896198 0.004220161 NA NA 0.8384089 0.8564313 0.01159107 NA NA NA FALSE 0 -1.713 . upstream_gene_variant MODIFIER WIPI1 HGNC 25471 ENST00000591744 1 NA CTG T,C 8.236e-06 17:68435746 WIPI1 HGNC Symbol protein_coding 36565 ENSG00000070540 ENSE00003566705 intron_variant 0.048467 0.10742 0.00721 0.099367 0.4171986 0.0896931 0.5235005 FALSE 4.06739e-06 ENSE00000766855_005 ENSE00000766855 005 5 147009203 147009372 - 53 54 63 T C 147009227 1551 146 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATGTGAATTTGCCTAAACAGAGGCAAG 147629639 147629809 147629663 147629664 147629664 downstr_intron 29 1.557692 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATGTGAATTTGCCTAAACAGAGGCAAG CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG mutant NA NA NA NA NA 13 66 1 1 1 NA NA 0.9946122 0.99647 NA NA 0.005387811 0.003530005 NA 0.9955411 NA 0.004458908 NA FALSE NA 0 -0.873 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 15/20 rs374251206 1 NA C:0.0002 C:0 ATA T,C 3.295e-05 5:147629664 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00000766855 intron_variant 0.280987 0.18094 0.02969 0.069865 0.7100853 0.120872 0.9999365 TRUE 3.7148e-05 ENSE00000766855_007 ENSE00000766855 007 5 147009203 147009372 - 53 54 63 C A 147009241 1553 132 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTTATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG 147629639 147629809 147629677 147629678 147629678 downstr_intron 15 1.288462 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTTATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG mutant NA NA NA NA NA 286 120 1 1 1 NA NA 0.9946122 0.99647 NA NA 0.005387811 0.003530005 NA 0.9955411 NA 0.004458908 NA FALSE NA 0 -1.513 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 15/20 1 NA TCA C,A 8.237e-06 5:147629678 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00000766855 intron_variant 1.417459 0.23551 0.07771 0.069865 0.6934734 0.247147 0.9999365 TRUE NA ENSE00000766855_009 ENSE00000766855 009 5 147009203 147009372 - 53 54 63 A G 147009277 1555 96 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTCGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG 147629639 147629809 147629713 147629714 147629714 exon -22 0.6111111 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTCGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG mutant NA NA NA NA NA 324 1632 0.9937098 0.9814853 0.9875976 NA NA 0.9946122 0.99647 NA NA -0.0009023439 -0.01498469 NA 0.9955411 NA -0.007943517 NA FALSE NA 0.711 -0.151 rs144223118 synonymous_variant LOW JAKMIP2 HGNC 29067 ENST00000265272 15/21 rs144223118 1 G:0.0006 G:0 G:0 NA G:0.003 G:0 G:0 CAA A,G 1.647e-05 5:147629714 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00000766855 synonymous_variant 0.881331 0.97453 0.62354 0.67177 0.8069645 0 0.9999365 TRUE 8.15607e-06 ENSE00000766855_011 ENSE00000766855 011 5 147009203 147009372 - 53 54 63 C T 147009313 1557 60 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTACAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG 147629639 147629809 147629749 147629750 147629750 upstr_intron -4 -0.04761905 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTACAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG mutant NA NA NA NA NA 105 167 0.9564891 0.9990518 0.9777704 NA NA 0.9946122 0.99647 NA NA -0.03812313 0.002581801 NA 0.9955411 NA -0.01777066 NA FALSE NA 0.347 -0.354 . splice_region_variant&intron_variant LOW JAKMIP2 HGNC 29067 ENST00000265272 14/20 1 NA GCA C,T 8.237e-06 5:147629750 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00000766855 splice_region_variant 2.007958 0.97572 0.33187 0.115753 0.7466082 0.385122 0.9999365 TRUE 4.10189e-06 ENSE00000766855_012 ENSE00000766855 012 5 147009203 147009372 - 53 54 63 G T 147009322 1558 51 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGATTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG 147629639 147629809 147629758 147629759 147629759 upstr_intron -13 -0.1904762 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGATTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG mutant NA NA NA NA NA 15 69 1 0.9130975 0.9565488 NA NA 0.9946122 0.99647 NA NA 0.005387811 -0.08337247 NA 0.9955411 NA -0.03899233 NA FALSE NA 0.992 1.394 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 14/20 1 NA AGC G,T 8.237e-06 5:147629759 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00000766855 intron_variant 1.435566 0.85593 0.63666 0.115753 0.6837232 0.302149 0.9999365 TRUE NA ENSE00000766855_014 ENSE00000766855 014 5 147009203 147009372 - 53 54 63 A G 147009332 1560 41 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACACGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG 147629639 147629809 147629768 147629769 147629769 upstr_intron -23 -0.3492063 CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACACGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG CAGGCACTGATGGAATAGGAGGCCACATTTGTCTTTGACATGAGTTTCTGCTTGATTTTGCAGGATGTGAACATCCCTGATCTCATAAAGCAGCTTGATATCTTGGGTGATAATGGGGTAAGTAAAGAATTGATTTAGTATAGATATGAATTTGCCTAAACAGAGGCAAG mutant NA NA NA NA NA 443 434 0.8747227 1 0.9373614 NA NA 0.9946122 0.99647 NA NA -0.1198895 0.003530005 NA 0.9955411 NA -0.05817974 NA FALSE NA 0.09 4.232 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 14/20 1 NA CAT A,G 8.237e-06 5:147629769 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00000766855 intron_variant 0.55308 0.76934 0.33579 0.115753 0.8130946 0.907126 0.9999365 TRUE NA ENSE00000773526_002 ENSE00000773526 002 3 62316947 62317116 + 53 75 42 A G 62316973 1925 27 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATCAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331297 62331298 62331298 upstr_intron -27 -0.490566 CCATTTGTTTTATGTAAATCCACTTTGATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 322 72 1 0.9994697 0.9997348 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 0.0115151 0.989414 0.9352659 NA 0.06446898 NA FALSE NA 0 -0.354 . intron_variant MODIFIER C3orf14 HGNC 25024 ENST00000494481 4/5 1 NA TAA A,G 8.236e-06 3:62331298 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 intron_variant -0.10207 0.09814 0.00549 0.078448 0.3433153 0.082047 1.595401e-06 FALSE 8.17688e-06 ENSE00000773526_003 ENSE00000773526 003 3 62316947 62317116 + 53 75 42 A G 62316974 1926 28 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATACTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331298 62331299 62331299 upstr_intron -26 -0.4716981 CCATTTGTTTTATGTAAATCCACTTTAGTATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 769 273 0.9890765 0.975624 0.9823503 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1064994 -0.01233053 0.989414 0.9352659 NA 0.04708442 NA FALSE NA 0 -0.557 . intron_variant MODIFIER C3orf14 HGNC 25024 ENST00000494481 4/5 1 NA AAT A,G 8.237e-06 3:62331299 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 intron_variant -0.060838 0.17314 0.03176 0.053691 0.439779 0.0858919 1.595401e-06 FALSE 4.08854e-06 ENSE00000773526_004 ENSE00000773526 004 3 62316947 62317116 + 53 75 42 C T 62316985 1927 39 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCAGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331309 62331310 62331310 upstr_intron -15 -0.2641509 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCTGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 118 170 0.9481496 0.9972676 0.9727086 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.06557246 0.009313003 0.989414 0.9352659 NA 0.03744273 NA FALSE NA 0.003 0.251 rs180755007 intron_variant MODIFIER C3orf14 HGNC 25024 ENST00000494481 4/5 rs180755007 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 7.413e-05 3:62331310 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 intron_variant 0.187905 0.07035 0.00047 0.053691 0.6554707 0.141881 1.595401e-06 FALSE 6.11491e-05 ENSE00000773526_005 ENSE00000773526 005 3 62316947 62317116 + 53 75 42 G A 62316986 1928 40 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATTGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331310 62331311 62331311 upstr_intron -14 -0.245283 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCAATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 31 109 1 1 1 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 0.01204543 0.989414 0.9352659 NA 0.06473415 NA FALSE NA 0 -0.259 . intron_variant MODIFIER C3orf14 HGNC 25024 ENST00000494481 4/5 1 NA CGA G,A 1.647e-05 3:62331311 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 intron_variant 0.072009 0.15571 0.02482 0.053691 0.6693167 0.0873401 1.595401e-06 FALSE 2.03693e-05 ENSE00000773526_006 ENSE00000773526 006 3 62316947 62317116 + 53 75 42 A G 62316996 1929 50 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGCAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331320 62331321 62331321 upstr_intron -4 -0.05660377 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTGCAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 430 2034 1 0.9982888 0.9991444 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 0.01033422 0.989414 0.9352659 NA 0.06387854 NA FALSE NA 0.837 -0.262 . splice_region_variant&intron_variant LOW C3orf14 HGNC 25024 ENST00000494481 4/5 rs368619330 1 NA G:0.0002 G:0 TAC A,G 2.471e-05 3:62331321 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 splice_region_variant 1.565609 0.96486 0.19537 0.162113 0.8145537 0.483012 1.595401e-06 FALSE 1.22035e-05 ENSE00000773526_007 ENSE00000773526 007 3 62316947 62317116 + 53 75 42 G A 62317000 1930 54 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATTCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331324 62331325 62331325 exon 1 0.01333333 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGAATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 896 298 0.999309 1 0.9996545 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1167319 0.01204543 0.989414 0.9352659 NA 0.06438865 NA FALSE NA 1 5.514 . missense_variant&splice_region_variant MODERATE C3orf14 HGNC 25024 ENST00000494481 5/6 1 deleterious(0) possibly_damaging(0.892) NA GGA G,A 8.236e-06 3:62331325 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 missense_variant 6.852009 0.99328 0.97537 0.706298 0.9991794 0 1.595401e-06 FALSE 4.0663e-06 ENSE00000773526_009 ENSE00000773526 009 3 62316947 62317116 + 53 75 42 C T 62317013 1932 67 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTACTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331337 62331338 62331338 exon 14 0.1866667 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGTAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 218 2238 0.8873421 0.9988813 0.9431117 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.004764919 0.01092674 0.989414 0.9352659 NA 0.007845827 NA FALSE NA 1 2.005 . missense_variant MODERATE C3orf14 HGNC 25024 ENST00000494481 5/6 1 tolerated(0.31) probably_damaging(0.951) NA GCA C,T 8.236e-06 3:62331338 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 missense_variant 4.675105 0.97787 0.77941 0.706298 0.99339 0 1.595401e-06 FALSE NA ENSE00000773526_011 ENSE00000773526 011 3 62316947 62317116 + 53 75 42 C A 62317022 1934 76 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTTACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331346 62331347 62331347 exon 23 0.3066667 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTAACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 13 241 1 0.8549679 0.927484 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 -0.1329866 0.989414 0.9352659 NA -0.007781886 NA FALSE NA 0.623 0.481 rs186089632 stop_gained HIGH C3orf14 HGNC 25024 ENST00000494481 5/6 rs186089632&COSM3596927 1 A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 HC TCA C,A 0.0003377 3:62331347 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 stop_gained 11.08472 0.90433 0.31363 0.706298 0.994508 0 1.595401e-06 FALSE 0.000296736 ENSE00000773526_012 ENSE00000773526 012 3 62316947 62317116 + 53 75 42 A T 62317028 1935 82 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCAGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331352 62331353 62331353 exon 29 0.3866667 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACTGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 147 476 1 0.9994384 0.9997192 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 0.0114838 0.989414 0.9352659 NA 0.06445333 NA FALSE NA 0.614 2.694 . missense_variant MODERATE C3orf14 HGNC 25024 ENST00000494481 5/6 rs371543865 1 deleterious(0) benign(0.385) NA T:0 T:0.0001 CAG A,T 8.236e-06 3:62331353 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 missense_variant 3.686276 0.35729 0.45635 0.706298 0.9953462 0 1.595401e-06 FALSE 4.06461e-06 ENSE00000773526_013 ENSE00000773526 013 3 62316947 62317116 + 53 75 42 A G 62317044 1936 98 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGCGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331368 62331369 62331369 exon -31 0.6 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCGCTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 406 346 0.9042108 0.8342236 0.8692172 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.02163364 -0.1537309 0.989414 0.9352659 NA -0.06604865 NA FALSE NA 0 0.636 . synonymous_variant LOW C3orf14 HGNC 25024 ENST00000494481 5/6 1 NA CAC A,G 8.236e-06 3:62331369 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 synonymous_variant 0.344128 0.21851 0.04644 0.706298 0.6460784 0 1.595401e-06 FALSE 4.06478e-06 ENSE00000773526_014 ENSE00000773526 014 3 62316947 62317116 + 53 75 42 C T 62317051 1937 105 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCATGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331375 62331376 62331376 exon -24 0.6933333 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCATGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 936 287 0.9976013 1 0.9988006 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1150242 0.01204543 0.989414 0.9352659 NA 0.06353479 NA FALSE NA 0.006 0.593 . missense_variant MODERATE C3orf14 HGNC 25024 ENST00000494481 5/6 COSM584715 1 tolerated(0.18) possibly_damaging(0.491) NA ACG C,T 4.118e-05 3:62331376 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 missense_variant 5.070272 0.2671 0.06724 0.706298 0.9879043 0 1.595401e-06 FALSE 3.6586e-05 ENSE00000773526_015 ENSE00000773526 015 3 62316947 62317116 + 53 75 42 G A 62317052 1938 106 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCTGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331376 62331377 62331377 exon -23 0.7066667 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACAGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 581 275 1 0.9934989 0.9967495 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 0.005544343 0.989414 0.9352659 NA 0.06148361 NA FALSE NA 0 -0.22 . missense_variant MODERATE C3orf14 HGNC 25024 ENST00000494481 5/6 1 tolerated(0.38) benign(0.001) NA CGG G,A 4.942e-05 3:62331377 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 missense_variant 0.891232 0.11008 0.00591 0.706298 0.8522354 0 1.595401e-06 FALSE 4.06507e-05 ENSE00000773526_016 ENSE00000773526 016 3 62316947 62317116 + 53 75 42 G A 62317057 1939 111 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTTAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331381 62331382 62331382 exon -18 0.7733333 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTAAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 136 185 1 0.9983371 0.9991686 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 0.01038256 0.989414 0.9352659 NA 0.06390271 NA FALSE NA 0.998 2.91 . missense_variant MODERATE C3orf14 HGNC 25024 ENST00000494481 5/6 1 tolerated(0.07) possibly_damaging(0.62) NA TGA G,A 1.647e-05 3:62331382 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 missense_variant 5.840521 0.98499 0.90797 0.706298 0.9982678 0 1.595401e-06 FALSE 8.12955e-06 ENSE00000773526_017 ENSE00000773526 017 3 62316947 62317116 + 53 75 42 T C 62317070 1940 124 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGATGCTCACCTCAGGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331394 62331395 62331395 exon -5 0.9466667 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCCTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 574 882 0.9761256 0.9859752 0.9810504 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.09354851 -0.001979384 0.989414 0.9352659 NA 0.04578456 NA FALSE NA 1 4.462 . missense_variant MODERATE C3orf14 HGNC 25024 ENST00000494481 5/6 1 deleterious(0) probably_damaging(0.994) NA CTT T,C 8.237e-06 3:62331395 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 missense_variant 5.739263 0.97944 0.93659 0.706298 0.9989921 0 1.595401e-06 FALSE 4.06643e-06 ENSE00000773526_020 ENSE00000773526 020 3 62316947 62317116 + 53 75 42 A C 62317081 1943 135 GATAGGGTCTCTCTTTTTACATTTGTTCCTTAAGAGGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331405 62331406 62331406 downstr_intron 7 1.170732 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCCTCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 770 295 0.9224289 1 0.9612145 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.0398518 0.01204543 0.989414 0.9352659 NA 0.02594861 NA FALSE NA 0.359 0.101 . splice_region_variant&intron_variant LOW C3orf14 HGNC 25024 ENST00000494481 5/5 1 NA CAT A,C 8.237e-06 3:62331406 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 splice_region_variant 0.015088 0.34506 0.01382 0.053691 0.631814 0.124727 1.595401e-06 FALSE 4.06967e-06 ENSE00000773526_022 ENSE00000773526 022 3 62316947 62317116 + 53 75 42 G T 62317088 1945 142 GATAGGGTCTCTCTTTTTACATTTGTTCATTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331412 62331413 62331413 downstr_intron 14 1.341463 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAATGAACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 1148 762 1 0.9996998 0.9998499 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 0.0117452 0.989414 0.9352659 NA 0.06458404 NA FALSE NA 0 -0.543 . intron_variant MODIFIER C3orf14 HGNC 25024 ENST00000494481 5/5 1 NA AGG G,T 8.237e-06 3:62331413 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 intron_variant 0.053341 0.20355 0.02653 0.053691 0.6242519 0.111045 1.595401e-06 FALSE 4.07299e-06 ENSE00000773526_023 ENSE00000773526 023 3 62316947 62317116 + 53 75 42 A G 62317090 1946 144 GATAGGGTCTCTCTTTTTACATTTGTCCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331414 62331415 62331415 downstr_intron 16 1.390244 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGGACAAATGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 322 266 0.9891373 0.9900408 0.989589 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1065602 0.002086181 0.989414 0.9352659 NA 0.05432317 NA FALSE NA 0.005 3.694 . intron_variant MODIFIER C3orf14 HGNC 25024 ENST00000494481 5/5 rs565782937 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 GAA A,G 3.295e-05 3:62331415 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 intron_variant 0.149099 0.20641 0.2604 0.053691 0.6688439 0.111045 1.595401e-06 FALSE 2.03802e-05 ENSE00000773526_024 ENSE00000773526 024 3 62316947 62317116 + 53 75 42 A T 62317095 1947 149 GATAGGGTCTCTCTTTTTACAATTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331419 62331420 62331420 downstr_intron 21 1.512195 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAATTGTAAAAAGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 1965 541 0.9056985 1 0.9528492 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.02312136 0.01204543 0.989414 0.9352659 NA 0.01758339 NA FALSE NA 0.002 0.9 . intron_variant MODIFIER C3orf14 HGNC 25024 ENST00000494481 5/5 rs377492209 1 NA AAT A,T 0.0001236 3:62331420 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 intron_variant -0.053168 0.17694 0.08734 0.053691 0.7037561 0.0446907 1.595401e-06 FALSE 0.000106012 ENSE00000773526_025 ENSE00000773526 025 3 62316947 62317116 + 53 75 42 A G 62317103 1948 157 GATAGGGTCTCTCCTTTTACATTTGTTCCTTAAGATGCTCACCTCAAGAGAAACCACCTCAGGCCGTGGAAGTGGGTGAATCCTGGTCTGTAGTGACTTTTCTGCTGCTTCTATATCCTGTAACAGATATCGGCATTTTATATTAAAGTGGATTTACATAAAACAAATGG 62331271 62331441 62331427 62331428 62331428 downstr_intron 29 1.707317 CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAGGAGAGACCCTATC CCATTTGTTTTATGTAAATCCACTTTAATATAAAATGCCGATATCTGTTACAGGATATAGAAGCAGCAGAAAAGTCACTACAGACCAGGATTCACCCACTTCCACGGCCTGAGGTGGTTTCTCTTGAGGTGAGCATCTTAAGGAACAAATGTAAAAAGAGAGACCCTATC mutant NA NA NA NA NA 224 1388 1 0.9955315 0.9977657 0.9861903 0.9926377 0.8825771 0.9879546 NA NA 0.1174229 0.007576896 0.989414 0.9352659 NA 0.06249988 NA FALSE NA 0 -0.299 . intron_variant MODIFIER C3orf14 HGNC 25024 ENST00000494481 5/5 1 NA AAG A,G 8.237e-06 3:62331428 C3orf14 HGNC Symbol protein_coding 17240 ENSG00000114405 ENSE00000773526 intron_variant 0.407706 0.15998 0.00476 0.053691 0.76353 0.0794645 1.595401e-06 FALSE 4.08737e-06 ENSE00000780555_001 ENSE00000780555 001 3 176755844 176756013 - 42 75 53 G A 176755854 3632 160 AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGTGGTGTCACAC 177038055 177038225 177038065 177038066 177038066 downstr_intron 32 1.780488 AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGTGGTGTCACAC AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC mutant NA NA NA NA NA 767 11 0.9572423 0.7619887 0.8596155 0.8111983 0.8458037 0.9540813 0.9599876 NA NA 0.00316099 -0.1979989 0.828501 0.9570344 NA -0.09741895 NA FALSE NA 0 -2.377 . intron_variant MODIFIER TBL1XR1 HGNC 29529 ENST00000457928 12/15 rs374571422 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0003 A:0 CGC G,A 5.792e-05 3:177038066 TBL1XR1 HGNC Symbol protein_coding 208660 ENSG00000177565 ENSE00000780555 intron_variant -0.042746 0.1559 0.01407 0.156188 0.7158414 0.046323 0.998822 TRUE 5.74058e-05 ENSE00000780555_003 ENSE00000780555 003 3 176755844 176756013 - 42 75 53 T C 176755871 3634 143 AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTGGGGAGAAATGGGTTGGCGGTGTCACAC 177038055 177038225 177038082 177038083 177038083 downstr_intron 15 1.365854 AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTGGGGAGAAATGGGTTGGCGGTGTCACAC AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC mutant NA NA NA NA NA 482 429 0.990768 0.9999112 0.9953396 0.8111983 0.8458037 0.9540813 0.9599876 NA NA 0.03668671 0.03992365 0.828501 0.9570344 NA 0.03830518 NA FALSE NA 0 -1.18 . intron_variant MODIFIER TBL1XR1 HGNC 29529 ENST00000457928 12/15 1 NA CTA T,C 8.274e-06 3:177038083 TBL1XR1 HGNC Symbol protein_coding 208660 ENSG00000177565 ENSE00000780555 intron_variant -0.06906 0.15442 0.00204 0.156188 0.499935 0.0518458 0.998822 TRUE 4.07461e-06 ENSE00000780555_005 ENSE00000780555 005 3 176755844 176756013 - 42 75 53 G A 176755901 3636 113 AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGATGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC 177038055 177038225 177038112 177038113 177038113 exon -16 0.8 AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGATGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC mutant NA NA NA NA NA 23 27 0.8276663 0.8 0.8138332 0.8111983 0.8458037 0.9540813 0.9599876 NA NA -0.126415 -0.1599876 0.828501 0.9570344 NA -0.1432013 NA FALSE NA 1 2.168 . synonymous_variant LOW TBL1XR1 HGNC 29529 ENST00000457928 12/16 1 NA CGT G,A 3.311e-05 3:177038113 TBL1XR1 HGNC Symbol protein_coding 208660 ENSG00000177565 ENSE00000780555 synonymous_variant 0.970462 0.95784 0.30503 0.706548 0.6216095 0 0.998822 TRUE 2.84803e-05 ENSE00000808094_001 ENSE00000808094 001 14 74531495 74531664 - 30 99 41 A T 74531516 979 149 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTAGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064812 74064813 74064813 downstr_intron 9 1.310345 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTAGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1418 1078 0.995187 0.9494754 0.9723312 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.0346176 -0.01657327 0.9984111 0.963309 NA 0.009022168 NA FALSE NA 0.504 -0.206 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/11 1 NA CAA A,T 8.237e-06 14:74064813 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 3_prime_UTR_variant 1.979935 0.89806 0.18002 0.162113 0.8428301 0.342569 1.622295e-05 FALSE 4.06954e-06 ENSE00000808094_004 ENSE00000808094 004 14 74531495 74531664 - 30 99 41 T C 74531545 982 120 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACGCCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064841 74064842 74064842 exon -21 0.7979798 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACGCCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 2556 1780 0.9989792 0.9997859 0.9993826 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03840981 0.03373725 0.9984111 0.963309 NA 0.03607353 NA FALSE NA 1 3.534 rs142529714 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 rs142529714 1 NA C:0.0002 C:0 GTG T,C 8.236e-06 14:74064842 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 missense_variant 2.301487 0.94898 0.82081 0.706298 0.9870929 0 1.622295e-05 FALSE 4.0699e-06 ENSE00000808094_005 ENSE00000808094 005 14 74531495 74531664 - 30 99 41 C A 74531550 983 115 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGTAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064846 74064847 74064847 exon -26 0.7474747 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGTAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1013 1153 0.9450235 1 0.9725118 0.9981625 0.9986598 0.9605694 0.9660487 NA NA -0.0155459 0.03395134 0.9984111 0.963309 NA 0.009202718 NA FALSE NA 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 COSM3497869&COSM3497870 1 NA TCC C,A 3.295e-05 14:74064847 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 missense_variant 6.992676 0.97849 0.956 0.706298 0.9980155 0 1.622295e-05 FALSE 1.62816e-05 ENSE00000808094_006 ENSE00000808094 006 14 74531495 74531664 - 30 99 41 T A 74531554 984 111 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCTGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064850 74064851 74064851 exon -30 0.7070707 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCTGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1935 2756 0.9990819 0.957013 0.9780475 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03851245 -0.009035616 0.9984111 0.963309 NA 0.01473842 NA FALSE NA 1 2.668 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 1 NA CTG T,A 8.236e-06 14:74064851 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 missense_variant 5.193852 0.92586 0.81851 0.706298 0.9987798 0 1.622295e-05 FALSE 8.14054e-06 ENSE00000808094_007 ENSE00000808094 007 14 74531495 74531664 - 30 99 41 G A 74531562 985 103 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATTCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064858 74064859 74064859 exon -38 0.6262626 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATTCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1095 153 0.8938518 0.8992555 0.8965536 0.9981625 0.9986598 0.9605694 0.9660487 NA NA -0.06671758 -0.06679321 0.9984111 0.963309 NA -0.0667554 NA FALSE NA 1 3.875 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 1 NA GGA G,A 8.236e-06 14:74064859 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 missense_variant 5.971948 0.95048 0.85136 0.706298 0.9973898 0 1.622295e-05 FALSE NA ENSE00000808094_008 ENSE00000808094 008 14 74531495 74531664 - 30 99 41 C G 74531565 986 100 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCCATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064861 74064862 74064862 exon -41 0.5959596 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCCATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1025 2719 0.9988704 0.9986734 0.9987719 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03830093 0.03262471 0.9984111 0.963309 NA 0.03546282 NA FALSE NA 1 7.82 rs147635769 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 rs147635769 1 NA G:0.0005 G:0.0003 TCG C,G 2.471e-05 14:74064862 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 missense_variant 6.240581 0.95158 0.93489 0.706298 0.9956147 0 1.622295e-05 FALSE 1.22129e-05 ENSE00000808094_011 ENSE00000808094 011 14 74531495 74531664 - 30 99 41 G A 74531573 989 92 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACTGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064869 74064870 74064870 exon -49 0.5151515 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACTGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1331 1364 0.999131 0.9971891 0.9981601 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03856161 0.03114043 0.9984111 0.963309 NA 0.03485102 NA FALSE NA 0 -2.602 rs147004133 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 rs147004133&COSM236977 1 A:0.0060 A:0.0227 A:0 NA A:0 A:0 A:0 A:0.017 A:0 CGG G,A 0.001474 14:74064870 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 synonymous_variant 1.340108 0.17025 0.0616 0.706298 0.737005 0 1.622295e-05 FALSE 0.00107095 ENSE00000808094_012 ENSE00000808094 012 14 74531495 74531664 - 30 99 41 T G 74531579 990 86 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCCTTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064875 74064876 74064876 exon 45 0.4545455 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCCTTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1193 1366 0.9250354 0.9301476 0.9275915 0.9981625 0.9986598 0.9605694 0.9660487 NA NA -0.03553404 -0.03590105 0.9984111 0.963309 NA -0.03571755 NA FALSE NA 1 0.694 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 1 NA ATG T,G 8.237e-06 14:74064876 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 synonymous_variant 1.05234 0.91758 0.61155 0.706298 0.7899368 0 1.622295e-05 FALSE 4.07113e-06 ENSE00000808094_013 ENSE00000808094 013 14 74531495 74531664 - 30 99 41 C T 74531585 991 80 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATATTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064881 74064882 74064882 exon 39 0.3939394 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATATTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1392 1039 0.9973226 0.9999634 0.998643 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03675316 0.0339147 0.9984111 0.963309 NA 0.03533393 NA FALSE NA 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 1 NA ACA C,T 8.237e-06 14:74064882 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 missense_variant 6.938086 0.97786 0.9472 0.706298 0.9972851 0 1.622295e-05 FALSE 1.22136e-05 ENSE00000808094_014 ENSE00000808094 014 14 74531495 74531664 - 30 99 41 G A 74531589 992 76 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCTAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064885 74064886 74064886 exon 35 0.3535354 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCTAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1023 355 0.9991521 1 0.9995761 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03858271 0.03395134 0.9984111 0.963309 NA 0.03626703 NA FALSE NA 1 9.873 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 rs371278097 1 NA A:0.0002 A:0 TGG G,A 8.237e-06 14:74064886 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 missense_variant 6.848146 0.97826 0.96617 0.706298 0.9989367 0 1.622295e-05 FALSE 4.07163e-06 ENSE00000808094_017 ENSE00000808094 017 14 74531495 74531664 - 30 99 41 C A 74531620 995 45 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGTGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064916 74064917 74064917 exon 4 0.04040404 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGTGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant 18 18 1 1 1 24 104 0.8212133 1 0.9106066 0.9981625 0.9986598 0.9605694 0.9660487 0.00183747 0.001340236 -0.1393562 0.03395134 0.9984111 0.963309 0.001588853 -0.05270241 0.05429126 FALSE FALSE 1 7.82 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 11/12 1 NA CCC C,A 1.647e-05 14:74064917 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 stop_gained 14.30038 0.97929 0.95857 0.706298 0.9929865 0 1.622295e-05 FALSE NA ENSE00000808094_018 ENSE00000808094 018 14 74531495 74531664 - 30 99 41 A G 74531634 996 31 CCTTTGTCCTTAGGATATGACACGGATTTGCTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064930 74064931 74064931 upstr_intron -11 -0.2439024 CCTTTGTCCTTAGGATATGACACGGATTTGCTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1520 779 0.9488038 0.9944298 0.9716168 0.9981625 0.9986598 0.9605694 0.9660487 NA NA -0.0117656 0.02838115 0.9984111 0.963309 NA 0.008307772 NA FALSE NA 0.998 2.812 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 10/11 1 NA AAC A,G 4.943e-05 14:74064931 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 3_prime_UTR_variant 0.004516 0.3884 0.42923 0.101703 0.572143 0.199997 1.622295e-05 FALSE 3.27721e-05 ENSE00000808094_019 ENSE00000808094 019 14 74531495 74531664 - 30 99 41 C G 74531640 997 25 CCTTTGTCCTTAGGATATGACACGCATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064936 74064937 74064937 upstr_intron -17 -0.3902439 CCTTTGTCCTTAGGATATGACACGCATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 657 502 1 0.9976147 0.9988074 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03943058 0.03156604 0.9984111 0.963309 NA 0.03549831 NA FALSE NA 0 -0.802 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 10/11 1 NA TCC C,G 8.238e-06 14:74064937 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 3_prime_UTR_variant -0.418232 0.22407 0.14298 0.101703 0.3801422 0.0543948 1.622295e-05 FALSE 1.23532e-05 ENSE00000808094_021 ENSE00000808094 021 14 74531495 74531664 - 30 99 41 G A 74531642 999 23 CCTTTGTCCTTAGGATATGACATGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064938 74064939 74064939 upstr_intron -19 -0.4390244 CCTTTGTCCTTAGGATATGACATGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 107 797 0.9731663 0.9997058 0.986436 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.01259686 0.03365715 0.9984111 0.963309 NA 0.02312701 NA FALSE NA 0 -0.082 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 10/11 rs566373950 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 CGT G,A 4.119e-05 14:74064939 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 3_prime_UTR_variant -0.570512 0.15801 0.01574 0.101703 0.5558772 0.0543948 1.622295e-05 FALSE 3.30038e-05 ENSE00000808094_022 ENSE00000808094 022 14 74531495 74531664 - 30 99 41 G A 74531644 1000 21 CCTTTGTCCTTAGGATATGATACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064940 74064941 74064941 upstr_intron -21 -0.4878049 CCTTTGTCCTTAGGATATGATACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 1407 507 0.9966803 0.9867821 0.9917312 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03611091 0.02073341 0.9984111 0.963309 NA 0.02842216 NA FALSE NA 0 -3.339 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000554501 10/11 1 NA TGT G,A 8.239e-06 14:74064941 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 3_prime_UTR_variant -0.432865 0.12304 0.00686 0.101703 0.5679686 0.0543948 1.622295e-05 FALSE 4.13363e-06 ENSE00000808103_001 ENSE00000808103 001 14 74541610 74541779 - 48 63 59 C T 74541621 1001 159 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAAGAATTCAGTAT 74074906 74075076 74074917 74074918 74074918 downstr_intron 37 1.787234 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAAGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 368 491 0.9641149 0.9888277 0.9764713 0.996404 0.9981278 0.9685188 0.8588443 NA NA -0.004403872 0.1299834 0.9972659 0.9136815 NA 0.06278979 NA FALSE NA 0.094 0.322 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000553814 2/4 1 NA CCT C,T 8.236e-06 14:74074918 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 intron_variant 0.056337 0.21497 0.09602 0.294411 0.4637533 0.11903 1.622295e-05 FALSE 8.1357e-06 ENSE00000808103_012 ENSE00000808103 012 14 74541610 74541779 - 48 63 59 T C 74541679 1012 101 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCGTCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74074975 74074976 74074976 exon -22 0.6666667 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCGTCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 544 265 1 0.990304 0.995152 0.996404 0.9981278 0.9685188 0.8588443 NA NA 0.03148123 0.1314597 0.9972659 0.9136815 NA 0.08147047 NA FALSE NA 0.639 -0.127 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000553814 2/5 1 NA ATG T,C 8.236e-06 14:74074976 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 synonymous_variant 0.537499 0.92801 0.46265 0.706298 0.7443538 0 1.622295e-05 FALSE 8.12348e-06 ENSE00000808103_014 ENSE00000808103 014 14 74541610 74541779 - 48 63 59 T C 74541711 1014 69 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCGAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74075007 74075008 74075008 exon 10 0.1587302 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCGAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 248 4022 0.9988326 0.9996639 0.9992482 0.996404 0.9981278 0.9685188 0.8588443 NA NA 0.03031382 0.1408196 0.9972659 0.9136815 NA 0.08556671 NA FALSE NA 0.955 1.964 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000553814 2/5 1 NA TTG T,C 8.237e-06 14:74075008 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 missense_variant 0.118744 0.96543 0.88042 0.706298 0.8572499 0 1.622295e-05 FALSE 8.1246e-06 ENSE00000808103_017 ENSE00000808103 017 14 74541610 74541779 - 48 63 59 T C 74541722 1017 58 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACGGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74075018 74075019 74075019 upstr_intron -2 -0.01694915 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACGGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant 25 68 0 0 0 NA NA NA NA NA 0.996404 0.9981278 0.9685188 0.8588443 -0.996404 -0.9981278 NA NA 0.9972659 0.9136815 -0.9972659 NA NA NA TRUE 0.986 3.528 . splice_acceptor_variant&non_coding_transcript_variant HIGH ALDH6A1 HGNC 7179 ENST00000553814 1/4 rs371132368 1 NA C:0 C:0.0001 CTG T,C 8.237e-06 14:74075019 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 splice_acceptor_variant 2.749999 0.94525 0.93936 0.162113 0.925973 0.321687 1.622295e-05 FALSE 4.06359e-06 ENSE00000808103_018 ENSE00000808103 018 14 74541610 74541779 - 48 63 59 G A 74541725 1018 55 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTTACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74075021 74075022 74075022 upstr_intron -5 -0.06779661 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTTACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 490 235 0.9988182 0.8 0.8994091 0.996404 0.9981278 0.9685188 0.8588443 NA NA 0.03029945 -0.05884429 0.9972659 0.9136815 NA -0.01427242 NA FALSE NA 0.001 0.368 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ALDH6A1 HGNC 7179 ENST00000553814 1/4 rs373676542 1 NA A:0.0005 A:0 TGA G,A 1.647e-05 14:74075022 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 splice_region_variant 0.153466 0.22167 0.03465 0.078448 0.5604521 0.18329 1.622295e-05 FALSE 1.2193e-05 ENSE00000808103_020 ENSE00000808103 020 14 74541610 74541779 - 48 63 59 A C 74541733 1020 47 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCGTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74075029 74075030 74075030 upstr_intron -13 -0.2033898 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCGTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 485 438 0.9812573 0.8775683 0.9294128 0.996404 0.9981278 0.9685188 0.8588443 NA NA 0.01273851 0.018724 0.9972659 0.9136815 NA 0.01573125 NA FALSE NA 0.974 2.592 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000553814 1/4 1 NA AAG A,C 8.237e-06 14:74075030 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 intron_variant 0.048607 0.49469 0.88464 0.053691 0.6359454 0.11465 1.622295e-05 FALSE 2.03302e-05 ENSE00000808103_023 ENSE00000808103 023 14 74541610 74541779 - 48 63 59 T G 74541743 1023 37 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAACTAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74075039 74075040 74075040 upstr_intron -23 -0.3728814 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAACTAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 90 1225 0.9838636 0.997788 0.9908258 0.996404 0.9981278 0.9685188 0.8588443 NA NA 0.01534484 0.1389437 0.9972659 0.9136815 NA 0.07714427 NA FALSE NA 0.077 0.672 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000553814 1/4 1 NA ATT T,G 8.237e-06 14:74075040 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 intron_variant 0.283136 0.96701 0.69343 0.053691 0.6474984 0.23256 1.622295e-05 FALSE 4.07425e-06 ENSE00000808103_024 ENSE00000808103 024 14 74541610 74541779 - 48 63 59 G C 74541754 1024 26 TAAATTTTAAATAACTTTCTGCTCTGATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74075050 74075051 74075051 upstr_intron -34 -0.559322 TAAATTTTAAATAACTTTCTGCTCTGATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 242 500 1 1 1 0.996404 0.9981278 0.9685188 0.8588443 NA NA 0.03148123 0.1411557 0.9972659 0.9136815 NA 0.08631847 NA FALSE NA 0.003 0.917 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000553814 1/4 1 NA TGA G,C 8.237e-06 14:74075051 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 intron_variant -0.002623 0.83289 0.3066 0.053691 0.5485697 0.23256 1.622295e-05 FALSE 4.10118e-06 ENSE00000808103_025 ENSE00000808103 025 14 74541610 74541779 - 48 63 59 G A 74541756 1025 24 TAAATTTTAAATAACTTTCTGCTTTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74075052 74075053 74075053 upstr_intron -36 -0.5932203 TAAATTTTAAATAACTTTCTGCTTTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 909 81 1 1 1 0.996404 0.9981278 0.9685188 0.8588443 NA NA 0.03148123 0.1411557 0.9972659 0.9136815 NA 0.08631847 NA FALSE NA 0.001 0.298 . intron_variant&non_coding_transcript_variant MODIFIER ALDH6A1 HGNC 7179 ENST00000553814 1/4 1 NA AGA G,A 8.237e-06 14:74075053 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 intron_variant 0.134039 0.28617 0.04505 0.053691 0.570956 0.11465 1.622295e-05 FALSE 4.11144e-06 ENSE00000808300_001 ENSE00000808300 001 14 75472527 75472696 + 42 96 32 C T 75472551 1106 25 CTCACTCTTTCTCTTAGAATCAGCTTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005847 75005848 75005848 upstr_intron -18 -0.4047619 CTCACTCTTTCTCTTAGAATCAGCTTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 208 1890 1 0.9988848 0.9994424 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.06514735 0.2316782 0.8156649 0.8510296 NA 0.1484128 NA FALSE NA 0.997 0.736 rs183965607 missense_variant&NMD_transcript_variant MODERATE EIF2B2 HGNC 3258 ENST00000553401 5/7 rs183965607 1 tolerated_low_confidence(0.18) benign(0.022) T:0.0006 T:0.0015 T:0.0014 NA T:0 T:0 T:0 T:0.0007 T:0 CCT C,T 0.0001071 14:75005848 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 1.861182 0.95586 0.48732 0.67177 0.8894746 0 0.0004282559 FALSE 0.000101532 ENSE00000808300_002 ENSE00000808300 002 14 75472527 75472696 + 42 96 32 G A 75472569 1107 43 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGAGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005865 75005866 75005866 exon 1 0.01041667 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGAGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 120 151 0.9779603 0.9997476 0.9888539 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.04310764 0.232541 0.8156649 0.8510296 NA 0.1378243 NA FALSE NA 1 9.506 rs149784396 missense_variant&NMD_transcript_variant MODERATE EIF2B2 HGNC 3258 ENST00000553401 5/7 rs149784396 1 unknown(0) NA A:0.0002 A:0 GGG G,A 8.236e-06 14:75005866 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 7.070053 0.99675 0.99643 0.722319 0.9663286 0 0.0004282559 FALSE 4.06108e-06 ENSE00000808300_003 ENSE00000808300 003 14 75472527 75472696 + 42 96 32 G T 75472570 1108 44 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGTTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005866 75005867 75005867 exon 2 0.02083333 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGTTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 1780 808 0.9962488 0.999568 0.9979084 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.06139613 0.2323614 0.8156649 0.8510296 NA 0.1468788 NA FALSE NA 1 9.506 rs113994012 synonymous_variant&NMD_transcript_variant LOW EIF2B2 HGNC 3258 ENST00000553401 5/7 rs113994012&CM041302&CM032884 1 NA T:0 T:0.0006 GGT G,T 0.0001977 14:75005867 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 6.924152 0.9969 0.99688 0.722319 0.9977758 0 0.0004282559 FALSE 0.000251783 ENSE00000808300_004 ENSE00000808300 004 14 75472527 75472696 + 42 96 32 A G 75472605 1109 79 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTGTTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005901 75005902 75005902 exon 37 0.3854167 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTGTTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 1476 1257 0.9936526 0.9996921 0.9966724 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.05879998 0.2324855 0.8156649 0.8510296 NA 0.1456428 NA FALSE NA 1 8.998 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/7 1 NA TAT A,G 8.236e-06 14:75005902 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 4.657635 0.99355 0.99356 0.722319 0.9980031 0 0.0004282559 FALSE 8.12189e-06 ENSE00000808300_005 ENSE00000808300 005 14 75472527 75472696 + 42 96 32 A G 75472609 1110 83 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGGGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005905 75005906 75005906 exon 41 0.4270833 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGGGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 804 1322 0.992286 0.9848482 0.9885671 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.05743334 0.2176416 0.8156649 0.8510296 NA 0.1375375 NA FALSE NA 1 8.998 rs104894425 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/7 rs104894425&CM013528 1 NA GAG A,G 3.295e-05 14:75005906 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 6.957525 0.99355 0.99356 0.722319 0.9988737 0 0.0004282559 FALSE 3.65488e-05 ENSE00000808300_006 ENSE00000808300 006 14 75472527 75472696 + 42 96 32 C G 75472624 1111 98 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGAGTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005920 75005921 75005921 exon -41 0.5833333 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGAGTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 1127 481 0.9847886 0.9662614 0.975525 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.04993593 0.1990548 0.8156649 0.8510296 NA 0.1244954 NA FALSE NA 1 6.03 rs148575518 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/7 CM066786 1 NA ACT C,G 8.236e-06 14:75005921 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 2.294503 0.99119 0.96211 0.722319 0.9818572 0 0.0004282559 FALSE NA ENSE00000808300_007 ENSE00000808300 007 14 75472527 75472696 + 42 96 32 A G 75472635 1112 109 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCGTTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005931 75005932 75005932 exon -30 0.6979167 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCGTTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 345 228 1 0.9998329 0.9999165 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.06514735 0.2326263 0.8156649 0.8510296 NA 0.1488868 NA FALSE NA 1 8.998 rs142977089 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/7 rs142977089 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0003 CAT A,G 9.884e-05 14:75005932 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 2.195197 0.99355 0.99356 0.722319 0.9249217 0 0.0004282559 FALSE 9.34048e-05 ENSE00000808300_009 ENSE00000808300 009 14 75472527 75472696 + 42 96 32 G A 75472644 1114 118 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCATTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005940 75005941 75005941 exon -21 0.7916667 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCATTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 1200 46 0.8011374 0.7031529 0.7521451 0.8468615 0.7844684 0.9348526 0.7672066 NA NA -0.1337153 -0.06405367 0.8156649 0.8510296 NA -0.09888447 NA FALSE NA 1 7.716 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/7 1 NA CGT G,A 3.295e-05 14:75005941 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 2.64051 0.99179 0.98809 0.722319 0.9908328 0 0.0004282559 FALSE 3.24892e-05 ENSE00000808300_010 ENSE00000808300 010 14 75472527 75472696 + 42 96 32 T C 75472648 1115 122 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTACGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005944 75005945 75005945 exon -17 0.8333333 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTACGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 2069 617 0.9968269 0.9888945 0.9928607 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.06197424 0.2216879 0.8156649 0.8510296 NA 0.1418311 NA FALSE NA 1 7.752 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/7 rs369821050 1 NA C:0 C:0.0001 ATG T,C 8.237e-06 14:75005945 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 5.889236 0.99329 0.9892 0.722319 0.9821398 0 0.0004282559 FALSE 4.06108e-06 ENSE00000808300_011 ENSE00000808300 011 14 75472527 75472696 + 42 96 32 G A 75472649 1116 123 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATATCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005945 75005946 75005946 exon -16 0.84375 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATATCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant 40 30 0.85 0.85 0.85 NA NA NA NA NA 0.8468615 0.7844684 0.9348526 0.7672066 0.003138513 0.06553165 NA NA 0.8156649 0.8510296 0.03433508 NA NA NA FALSE 1 9.506 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/7 1 NA TGT G,A 8.237e-06 14:75005946 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 6.905233 0.99523 0.99441 0.722319 0.9894018 0 0.0004282559 FALSE 4.06121e-06 ENSE00000808300_014 ENSE00000808300 014 14 75472527 75472696 + 42 96 32 A G 75472660 1119 134 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAGCAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005956 75005957 75005957 exon -5 0.9583333 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAGCAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 1454 1766 0.8341379 0.8336655 0.8339017 0.8468615 0.7844684 0.9348526 0.7672066 NA NA -0.1007147 0.0664589 0.8156649 0.8510296 NA -0.01712791 NA FALSE NA 1 8.998 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/7 1 NA AAC A,G 8.236e-06 14:75005957 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 missense_variant 4.859931 0.99338 0.99345 0.722319 0.9942485 0 0.0004282559 FALSE 1.21834e-05 ENSE00000808300_015 ENSE00000808300 015 14 75472527 75472696 + 42 96 32 T C 75472666 1120 140 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGCGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005962 75005963 75005963 downstr_intron 2 1.064516 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGCGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 174 371 0.002819185 0.1406966 0.0717579 0.8468615 0.7844684 0.9348526 0.7672066 NA NA -0.9320335 -0.62651 0.8156649 0.8510296 NA -0.7792717 NA TRUE NA 1 7.752 . splice_donor_variant&NMD_transcript_variant HIGH EIF2B2 HGNC 3258 ENST00000553401 5/6 1 NA GTG T,C 1.647e-05 14:75005963 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 splice_donor_variant 5.019402 0.9931 0.98901 0.115753 0.989828 0.986543 0.0004282559 FALSE 8.12262e-06 ENSE00000808300_016 ENSE00000808300 016 14 75472527 75472696 + 42 96 32 G T 75472669 1121 143 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGTTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005965 75005966 75005966 downstr_intron 5 1.16129 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGTTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant 257 285 0 0 0 1040 170 0.0009414977 0.01263553 0.006788516 0.8468615 0.7844684 0.9348526 0.7672066 -0.8468615 -0.7844684 -0.9339111 -0.7545711 0.8156649 0.8510296 -0.8156649 -0.8442411 0.02857619 TRUE TRUE 1 5.716 . splice_region_variant&intron_variant&NMD_transcript_variant LOW EIF2B2 HGNC 3258 ENST00000553401 5/6 1 NA GGT G,T 8.236e-06 14:75005966 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 splice_region_variant 0.721984 0.60014 0.96847 0.069865 0.6912182 0.769984 0.0004282559 FALSE 1.62452e-05 ENSE00000808300_017 ENSE00000808300 017 14 75472527 75472696 + 42 96 32 T C 75472684 1122 158 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTACGTTGAATTCATG 75005823 75005993 75005980 75005981 75005981 downstr_intron 20 1.645161 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTACGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 1357 3036 0.7793786 0.9585162 0.8689474 0.8468615 0.7844684 0.9348526 0.7672066 NA NA -0.155474 0.1913096 0.8156649 0.8510296 NA 0.01791781 NA FALSE NA 0 -0.033 . intron_variant&NMD_transcript_variant MODIFIER EIF2B2 HGNC 3258 ENST00000553401 5/6 1 NA ATG T,C 8.236e-06 14:75005981 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 intron_variant -0.003215 0.18055 0.07389 0.069865 0.4939706 0.150158 0.0004282559 FALSE 4.06134e-06 ENSE00000844578_002 ENSE00000844578 002 16 70796396 70796565 - 47 66 57 G A 70796407 2520 159 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATTGGCTGCCCTGC 70762492 70762662 70762503 70762504 70762504 downstr_intron 36 1.782609 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATTGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 90 385 0.9799701 1 0.989985 0.999551 1 0.9965249 0.9955982 NA NA -0.0165548 0.004401807 0.9997755 0.9960615 NA -0.006076498 NA FALSE NA 0 -1.196 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/17 rs534356515 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 1.647e-05 16:70762504 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant -0.711432 0.06305 0.00033 0.295142 0.7537391 0.046323 0.6297002 FALSE 1.22811e-05 ENSE00000844578_003 ENSE00000844578 003 16 70796396 70796565 - 47 66 57 T G 70796411 2521 155 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGACCATCGGCTGCCCTGC 70762492 70762662 70762507 70762508 70762508 downstr_intron 32 1.695652 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGACCATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 351 140 1 0.9937864 0.9968932 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 -0.001811757 0.9997755 0.9960615 NA 0.000831685 NA FALSE NA 0 -1.19 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/17 1 NA GTT T,G 8.237e-06 16:70762508 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant -0.318013 0.05686 0.00566 0.295142 0.2934462 0.046323 0.6297002 FALSE 4.08033e-06 ENSE00000844578_006 ENSE00000844578 006 16 70796396 70796565 - 47 66 57 T A 70796416 2524 150 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTTTGGAACATCGGCTGCCCTGC 70762492 70762662 70762512 70762513 70762513 downstr_intron 27 1.586957 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTTTGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 303 956 0.9945796 0.8675229 0.9310513 0.999551 1 0.9965249 0.9955982 NA NA -0.001945269 -0.1280753 0.9997755 0.9960615 NA -0.06501027 NA FALSE NA 0 -0.666 rs16970522 intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/17 rs16970522 1 A:0.0254 A:0.09 A:0.0101 NA A:0 A:0.001 A:0 A:0.0648 A:0.0005 ATA T,A 0.00612 16:70762513 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.367264 0.23091 0.09026 0.295142 0.5299993 0.046875 0.6297002 FALSE 0.00500126 ENSE00000844578_007 ENSE00000844578 007 16 70796396 70796565 - 47 66 57 C T 70796422 2525 144 GCAGGGCAGCCGATGTTCCATAAGTATGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGT 70762492 70762662 70762518 70762519 70762519 downstr_intron 21 1.456522 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCATACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 1280 200 0.9927881 0.9992084 0.9959983 0.999551 1 0.9965249 0.9955982 NA NA -0.003736756 0.003610221 0.9997755 0.9960615 NA -6.326774e-05 NA FALSE NA 0 0.153 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/17 rs370882320 1 NA T:0.0007 T:0 ACG C,T 4.942e-05 16:70762519 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.085345 0.21223 0.03866 0.295142 0.7921754 0.046323 0.6297002 FALSE 7.74051e-05 ENSE00000844578_011 ENSE00000844578 011 16 70796396 70796565 - 47 66 57 G A 70796430 2529 136 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAATGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762526 70762527 70762527 downstr_intron 13 1.282609 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAATGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 194 205 0.9972092 0.9977407 0.997475 0.999551 1 0.9965249 0.9955982 NA NA 0.0006843467 0.00214251 0.9997755 0.9960615 NA 0.001413428 NA FALSE NA 0 -0.153 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/17 rs557131715 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 CGT G,A 9.06e-05 16:70762527 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.495244 0.21186 0.03582 0.295142 0.8497062 0.046323 0.6297002 FALSE 0.000138304 ENSE00000844578_012 ENSE00000844578 012 16 70796396 70796565 - 47 66 57 T C 70796431 2530 135 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAGCGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762527 70762528 70762528 downstr_intron 12 1.26087 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAGCGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 695 236 0.9894707 0.9988631 0.9941669 0.999551 1 0.9965249 0.9955982 NA NA -0.007054183 0.003264953 0.9997755 0.9960615 NA -0.001894615 NA FALSE NA 0 -4.432 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/17 1 NA GTT T,C 8.236e-06 16:70762528 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.274325 0.14655 0.00994 0.295142 0.4839793 0.046323 0.6297002 FALSE NA ENSE00000844578_013 ENSE00000844578 013 16 70796396 70796565 - 47 66 57 T C 70796435 2531 131 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCGCCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762531 70762532 70762532 downstr_intron 8 1.173913 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCGCCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 190 389 0.9313981 1 0.965699 0.999551 1 0.9965249 0.9955982 NA NA -0.0651268 0.004401807 0.9997755 0.9960615 NA -0.0303625 NA FALSE NA 0 -3.296 . splice_region_variant&intron_variant&NMD_transcript_variant LOW VAC14 HGNC 25507 ENST00000568548 11/17 1 NA GTG T,C 8.236e-06 16:70762532 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 splice_region_variant -0.311088 0.12408 0.02494 0.295142 0.5484316 0.0804526 0.6297002 FALSE NA ENSE00000844578_014 ENSE00000844578 014 16 70796396 70796565 - 47 66 57 G A 70796450 2532 116 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATTGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762546 70762547 70762547 exon -8 0.8939394 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATTGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 1649 618 0.9989974 0.999744 0.9993707 0.999551 1 0.9965249 0.9955982 NA NA 0.002472565 0.004145812 0.9997755 0.9960615 NA 0.003309188 NA FALSE NA 1 8.84 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 1 NA CGA G,A 8.236e-06 16:70762547 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 6.630337 0.99612 0.99843 0.706298 0.9711495 0 0.6297002 FALSE 8.12843e-06 ENSE00000844578_015 ENSE00000844578 015 16 70796396 70796565 - 47 66 57 C T 70796458 2533 108 GCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCTGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGT 70762492 70762662 70762554 70762555 70762555 exon -16 0.7727273 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCAGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 244 2041 1 1 1 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.004401807 0.9997755 0.9960615 NA 0.003938467 NA FALSE NA 0 -3.9 rs184203833 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 rs184203833 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 4.118e-05 16:70762555 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 1.575389 0.10744 0.02043 0.706298 0.8646811 0 0.6297002 FALSE 4.06355e-05 ENSE00000844578_016 ENSE00000844578 016 16 70796396 70796565 - 47 66 57 G A 70796459 2534 107 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATTGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762555 70762556 70762556 exon -17 0.7575758 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATTGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant 23 18 0.9602746 0.9453616 0.9528181 110 171 1 1 1 0.999551 1 0.9965249 0.9955982 -0.03927643 -0.05463841 0.003475127 0.004401807 0.9997755 0.9960615 -0.04695742 0.003938467 0.05089589 FALSE FALSE 1 8.84 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 rs200148827 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 CGA G,A 1.647e-05 16:70762556 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 6.665418 0.99607 0.99842 0.706298 0.9947965 0 0.6297002 FALSE 8.12731e-06 ENSE00000844578_017 ENSE00000844578 017 16 70796396 70796565 - 47 66 57 C T 70796464 2535 102 GCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAATGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGT 70762492 70762662 70762560 70762561 70762561 exon -22 0.6818182 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACATTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 239 416 0.9903146 1 0.9951573 0.999551 1 0.9965249 0.9955982 NA NA -0.00621029 0.004401807 0.9997755 0.9960615 NA -0.0009042414 NA FALSE NA 0 -1.567 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 rs556500835 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACG C,T 1.647e-05 16:70762561 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 1.989556 0.22753 0.0956 0.706298 0.9862213 0 0.6297002 FALSE 1.62525e-05 ENSE00000844578_018 ENSE00000844578 018 16 70796396 70796565 - 47 66 57 T A 70796468 2536 98 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCTGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762564 70762565 70762565 exon -26 0.6212121 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCTGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 412 22 1 1 1 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.004401807 0.9997755 0.9960615 NA 0.003938467 NA FALSE NA 1 3.355 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 1 NA CTG T,A 3.295e-05 16:70762565 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 stop_gained 2.847708 0.98333 0.98627 0.706298 0.9958388 0 0.6297002 FALSE 4.46933e-05 ENSE00000844578_020 ENSE00000844578 020 16 70796396 70796565 - 47 66 57 G C 70796472 2538 94 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTAGTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762568 70762569 70762569 exon -30 0.5606061 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTAGTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 189 205 1 0.9924153 0.9962076 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 -0.003182911 0.9997755 0.9960615 NA 0.0001461084 NA FALSE NA 1 6.879 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 1 NA AGT G,C 8.236e-06 16:70762569 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 stop_gained 4.394298 0.99034 0.99372 0.706298 0.9954325 0 0.6297002 FALSE 4.06322e-06 ENSE00000844578_022 ENSE00000844578 022 16 70796396 70796565 - 47 66 57 G A 70796488 2540 78 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGTCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762584 70762585 70762585 exon 21 0.3181818 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGTCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 72 309 1 1 1 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.004401807 0.9997755 0.9960615 NA 0.003938467 NA FALSE NA 1 2.921 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 1 NA GGC G,A 2.471e-05 16:70762585 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 1.892007 0.98444 0.94115 0.706298 0.9752811 0 0.6297002 FALSE 2.03214e-05 ENSE00000844578_023 ENSE00000844578 023 16 70796396 70796565 - 47 66 57 T G 70796490 2541 76 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACCGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762586 70762587 70762587 exon 19 0.2878788 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACCGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 190 1411 0.9892979 0.9988864 0.9940922 0.999551 1 0.9965249 0.9955982 NA NA -0.007226986 0.00328825 0.9997755 0.9960615 NA -0.001969368 NA FALSE NA 1 7.098 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 1 NA CTG T,G 8.236e-06 16:70762587 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 3.48895 0.99261 0.99683 0.706298 0.9916486 0 0.6297002 FALSE 4.06438e-06 ENSE00000844578_027 ENSE00000844578 027 16 70796396 70796565 - 47 66 57 C A 70796500 2545 66 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGTCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762596 70762597 70762597 exon 9 0.1363636 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGTCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 44 240 0.9668765 0.9716012 0.9692389 0.999551 1 0.9965249 0.9955982 NA NA -0.02964834 -0.02399697 0.9997755 0.9960615 NA -0.02682266 NA FALSE NA 0.993 0.265 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 1 NA GCC C,A 8.236e-06 16:70762597 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 2.172175 0.95332 0.90388 0.706298 0.9540439 0 0.6297002 FALSE 4.06765e-06 ENSE00000844578_029 ENSE00000844578 029 16 70796396 70796565 - 47 66 57 G A 70796503 2547 63 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTTCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762599 70762600 70762600 exon 6 0.09090909 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTTCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 1337 21 0.9898954 0.9923932 0.9911443 0.999551 1 0.9965249 0.9955982 NA NA -0.006629428 -0.003205014 0.9997755 0.9960615 NA -0.004917221 NA FALSE NA 1 2.738 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 11/18 1 NA GGA G,A 8.236e-06 16:70762600 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 1.436148 0.97737 0.94163 0.706298 0.9932372 0 0.6297002 FALSE 4.06798e-06 ENSE00000844578_030 ENSE00000844578 030 16 70796396 70796565 - 47 66 57 C T 70796506 2548 60 GCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAATATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGT 70762492 70762662 70762602 70762603 70762603 exon 3 0.04545455 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATATTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 139 512 1 1 1 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.004401807 0.9997755 0.9960615 NA 0.003938467 NA FALSE NA 1 6.692 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW VAC14 HGNC 25507 ENST00000568548 11/18 1 NA ACA C,T 8.237e-06 16:70762603 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 missense_variant 3.446582 0.99293 0.99582 0.706298 0.9746064 0 0.6297002 FALSE 8.1355e-06 ENSE00000844578_031 ENSE00000844578 031 16 70796396 70796565 - 47 66 57 G A 70796515 2549 51 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCTCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762611 70762612 70762612 upstr_intron -7 -0.1052632 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCTCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 538 738 1 0.9985429 0.9992715 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.002944718 0.9997755 0.9960615 NA 0.003209923 NA FALSE NA 1 1.254 rs2305689 splice_region_variant&intron_variant&NMD_transcript_variant LOW VAC14 HGNC 25507 ENST00000568548 10/17 rs2305689 1 G:0.4040 A:0.4841 A:0.7608 NA A:0.5188 A:0.6561 A:0.6483 A:0.5086 A:0.6507 GGG A,A 0.649 16:70762612 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 splice_region_variant 0.748455 0.89214 0.01894 0.062308 0.9097912 0.610082 0.6297002 FALSE 0.65725 ENSE00000844578_032 ENSE00000844578 032 16 70796396 70796565 - 47 66 57 G C 70796519 2550 47 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTGTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762615 70762616 70762616 upstr_intron -11 -0.1754386 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTGTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 765 1333 0.9764154 0.8894382 0.9329268 0.999551 1 0.9965249 0.9955982 NA NA -0.02010951 -0.10616 0.9997755 0.9960615 NA -0.06313477 NA FALSE NA 1 2.732 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 rs369282294 1 NA C:0.0002 C:0 AGA G,C 8.237e-06 16:70762616 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 1.488905 0.98179 0.9591 0.062308 0.7498326 0.511274 0.6297002 FALSE 8.14671e-06 ENSE00000844578_034 ENSE00000844578 034 16 70796396 70796565 - 47 66 57 G A 70796530 2552 36 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCATCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762626 70762627 70762627 upstr_intron -22 -0.3684211 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCATCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 169 381 0.9879966 1 0.9939983 0.999551 1 0.9965249 0.9955982 NA NA -0.00852826 0.004401807 0.9997755 0.9960615 NA -0.002063227 NA FALSE NA 0 -0.287 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 1 NA GGT G,A 3.295e-05 16:70762627 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.530301 0.19931 0.08057 0.062308 0.8280182 0.12974 0.6297002 FALSE 4.90926e-05 ENSE00000844578_036 ENSE00000844578 036 16 70796396 70796565 - 47 66 57 C T 70796534 2554 32 GCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCTCGTGAGTGCTCCCTTCGCCCCGGGACTACGT 70762492 70762662 70762630 70762631 70762631 upstr_intron -26 -0.4385965 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGAGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 220 181 1 1 1 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.004401807 0.9997755 0.9960615 NA 0.003938467 NA FALSE NA 0 -0.72 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 1 NA CCC C,T 8.236e-06 16:70762631 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.289814 0.20063 0.01782 0.062308 0.6819021 0.0456277 0.6297002 FALSE NA ENSE00000844578_037 ENSE00000844578 037 16 70796396 70796565 - 47 66 57 C T 70796535 2555 31 GCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCTGTGAGTGCTCCCTTCGCCCCGGGACTACGT 70762492 70762662 70762631 70762632 70762632 upstr_intron -27 -0.4561404 ACGTAGTCCCGGGGCGAAGGGAGCACTCACAGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 831 93 0.8945971 0.722351 0.8084741 0.999551 1 0.9965249 0.9955982 NA NA -0.1019277 -0.2732472 0.9997755 0.9960615 NA -0.1875875 NA FALSE NA 0 -2.768 rs2305690 intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 rs2305690 1 C:0.4129 T:0.4629 T:0.755 NA T:0.5169 T:0.6441 T:0.6493 T:0.4932 T:0.6392 CCG C,T 0.64 16:70762632 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant -0.450101 0.06267 0.01574 0.062308 0.6945349 0.0456277 0.6297002 FALSE 0.647696 ENSE00000844578_038 ENSE00000844578 038 16 70796396 70796565 - 47 66 57 G A 70796536 2556 30 ACGTAGTCCCGGGGCGAAGGGAGCACTCATGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762632 70762633 70762633 upstr_intron -28 -0.4736842 ACGTAGTCCCGGGGCGAAGGGAGCACTCATGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 337 675 0.7829168 0.9009405 0.8419286 0.999551 1 0.9965249 0.9955982 NA NA -0.2136081 -0.09465773 0.9997755 0.9960615 NA -0.1541329 NA FALSE NA 0.001 -1.122 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 rs78628386 1 NA CGT G,A 2.471e-05 16:70762633 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.069646 0.13191 0.03405 0.062308 0.6966946 0.0456277 0.6297002 FALSE 2.04804e-05 ENSE00000844578_039 ENSE00000844578 039 16 70796396 70796565 - 47 66 57 T C 70796541 2557 25 ACGTAGTCCCGGGGCGAAGGGAGCGCTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762637 70762638 70762638 upstr_intron -33 -0.5614035 ACGTAGTCCCGGGGCGAAGGGAGCGCTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 11 272 1 1 1 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.004401807 0.9997755 0.9960615 NA 0.003938467 NA FALSE NA 0.002 -0.827 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 1 NA GTG T,C 5.766e-05 16:70762638 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant -0.014561 0.11879 0.00489 0.062308 0.2622178 0.0456277 0.6297002 FALSE 5.75942e-05 ENSE00000844578_040 ENSE00000844578 040 16 70796396 70796565 - 47 66 57 C T 70796547 2558 19 GCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCTTTCGCCCCGGGACTACGT 70762492 70762662 70762643 70762644 70762644 upstr_intron -39 -0.6666667 ACGTAGTCCCGGGGCGAAAGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 845 90 0.9980501 1 0.9990251 0.999551 1 0.9965249 0.9955982 NA NA 0.001525269 0.004401807 0.9997755 0.9960615 NA 0.002963538 NA FALSE NA 0 -0.917 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 1 NA CCT C,T 8.237e-06 16:70762644 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.062162 0.17444 0.02086 0.062308 0.606965 0.0448725 0.6297002 FALSE 4.15279e-06 ENSE00000844578_041 ENSE00000844578 041 16 70796396 70796565 - 47 66 57 C T 70796550 2559 16 GCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTTGCCCCGGGACTACGT 70762492 70762662 70762646 70762647 70762647 upstr_intron -42 -0.7192982 ACGTAGTCCCGGGGCAAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 275 441 1 1 1 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.004401807 0.9997755 0.9960615 NA 0.003938467 NA FALSE NA 0 -2.199 rs112783419 intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 rs112783419 1 T:0.0006 T:0.0008 T:0 NA T:0 T:0.002 T:0 T:0.0002 T:0 TCG C,T 6.59e-05 16:70762647 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant -0.153025 0.09029 0.00821 0.062308 0.6813009 0.0455939 0.6297002 FALSE 3.76783e-05 ENSE00000844578_042 ENSE00000844578 042 16 70796396 70796565 - 47 66 57 G A 70796551 2560 15 ACGTAGTCCCGGGGTGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762647 70762648 70762648 upstr_intron -43 -0.7368421 ACGTAGTCCCGGGGTGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 25 435 1 0.9895509 0.9947755 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 -0.006047277 0.9997755 0.9960615 NA -0.001286075 NA FALSE NA 0 -1.49 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 rs373888321 1 NA A:0 A:0.0001 CGC G,A 8.237e-06 16:70762648 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant -0.34717 0.06037 0.00672 0.062308 0.6784227 0.0455939 0.6297002 FALSE 1.25701e-05 ENSE00000844578_043 ENSE00000844578 043 16 70796396 70796565 - 47 66 57 C T 70796555 2561 11 GCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCTGGGACTACGT 70762492 70762662 70762651 70762652 70762652 upstr_intron -47 -0.8070175 ACGTAGTCCCAGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 1310 1227 1 0.9995958 0.9997979 0.999551 1 0.9965249 0.9955982 NA NA 0.003475127 0.003997576 0.9997755 0.9960615 NA 0.003736352 NA FALSE NA 0 -0.485 . intron_variant&NMD_transcript_variant MODIFIER VAC14 HGNC 25507 ENST00000568548 10/17 1 NA CCG C,T 8.237e-06 16:70762652 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.150427 0.21337 0.03728 0.062308 0.7219554 0.0455939 0.6297002 FALSE 2.11236e-05 ENSE00000844709_008 ENSE00000844709 008 20 39743955 39744124 + 56 69 45 T C 39744001 1278 47 CTCTGGCTGGGACTCCCTTCAACATTGTGTGCTTCATCTACTCACATTGAGTCTATCAAAAAGATCATCCTCGGGCTGCTTGTTCTCCATAAATAGTTGTAGGTTCTTAAAAACCTAAAAGATGTAAGTGAATCCTAATTATTACTCTTGAAAAAAATCCTAACTTTAGA 41115314 41115484 41115360 41115361 41115361 upstr_intron -10 -0.1607143 TCTAAAGTTAGGATTTTTTTCAAGAGTAATAATTAGGATTCACTTACATCTTTTAGGTTTTTAAGAACCTACAACTATTTATGGAGAACAAGCAGCCCGAGGATGATCTTTTTGATAGACTCAATGTGAGTAGATGAAGCACACAATGTTGAAGGGAGTCCCAGCCAGAG TCTAAAGTTAGGATTTTTTTCAAGAGTAATAATTAGGATTCACTTATATCTTTTAGGTTTTTAAGAACCTACAACTATTTATGGAGAACAAGCAGCCCGAGGATGATCTTTTTGATAGACTCAATGTGAGTAGATGAAGCACACAATGTTGAAGGGAGTCCCAGCCAGAG mutant NA NA NA NA NA 77 330 0 0 0 NA NA 0.8 0.95 NA NA -0.8 -0.95 NA 0.875 NA -0.875 NA TRUE NA 0.451 2.389 . intron_variant MODIFIER TOP1 HGNC 11986 ENST00000361337 15/20 rs368935571 1 NA C:0 C:0.0001 ATA T,C 1.647e-05 20:41115361 TOP1 HGNC Symbol protein_coding 95669 ENSG00000198900 ENSE00000844709 intron_variant 0.623234 0.35389 0.61729 0.295142 0.8674884 0.137169 0.9999994 TRUE 8.15528e-06 ENSE00000844983_010 ENSE00000844983 010 20 44006137 44006306 - 42 75 53 C T 44006189 1415 118 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCATCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 45377548 45377549 45377549 exon -11 0.8666667 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCATCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT mutant NA NA NA NA NA 296 204 0.9998609 0.9886061 0.9942335 0.9328376 0.7775485 0.943671 0.9414262 NA NA 0.05618988 0.0471799 0.8551931 0.9425486 NA 0.05168489 NA FALSE NA 1 3.356 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TP53TG5 HGNC 15856 ENST00000488588 3/4 rs372226343 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 T:0 T:0.0001 ACG C,T 4.942e-05 20:45377549 TP53TG5 HGNC Symbol protein_coding 35326 ENSG00000124251 ENSE00003663784 missense_variant 6.418162 0.98328 0.91242 0.553676 0.9994912 0 3.302444e-06 FALSE 4.4722e-05 ENSE00000844983_011 ENSE00000844983 011 20 44006137 44006306 - 42 75 53 C T 44006195 1416 112 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCAGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 45377554 45377555 45377555 exon -17 0.7866667 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCAGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT mutant NA NA NA NA NA 100 262 0.9837066 0.9644159 0.9740613 0.9328376 0.7775485 0.943671 0.9414262 NA NA 0.04003564 0.02298973 0.8551931 0.9425486 NA 0.03151268 NA FALSE NA 0.88 0.133 rs116218782 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TP53TG5 HGNC 15856 ENST00000488588 3/4 rs116218782 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0011 T:0.0001 CCG C,T 0.0001071 20:45377555 TP53TG5 HGNC Symbol protein_coding 35326 ENSG00000124251 ENSE00003663784 missense_variant 2.613497 0.76419 0.37841 0.553676 0.9952374 0 3.302444e-06 FALSE 8.94214e-05 ENSE00000844983_017 ENSE00000844983 017 20 44006137 44006306 - 42 75 53 T C 44006228 1422 79 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGGGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 45377587 45377588 45377588 exon 26 0.3466667 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGGGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT mutant NA NA NA NA NA 33 27 0.95 1 0.975 0.9328376 0.7775485 0.943671 0.9414262 NA NA 0.006328998 0.05857383 0.8551931 0.9425486 NA 0.03245141 NA FALSE NA 0.419 0.292 rs138660321 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TP53TG5 HGNC 15856 ENST00000488588 3/4 rs138660321 1 NA C:0 C:0.0001 CTC T,C 8.237e-06 20:45377588 TP53TG5 HGNC Symbol protein_coding 35326 ENSG00000124251 ENSE00003663784 missense_variant 1.078093 0.96399 0.47303 0.553676 0.9888299 0 3.302444e-06 FALSE 8.13339e-06 ENSE00000844983_025 ENSE00000844983 025 20 44006137 44006306 - 42 75 53 G A 44006238 1430 69 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAATTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 45377597 45377598 45377598 exon 16 0.2133333 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAATTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT mutant NA NA NA NA NA 24 38 0.8 0.8 0.8 0.9328376 0.7775485 0.943671 0.9414262 NA NA -0.143671 -0.1414262 0.8551931 0.9425486 NA -0.1425486 NA FALSE NA 0.004 -0.076 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TP53TG5 HGNC 15856 ENST00000488588 3/4 rs374404649 1 NA A:0 A:0.0002 AGT G,A 2.471e-05 20:45377598 TP53TG5 HGNC Symbol protein_coding 35326 ENSG00000124251 ENSE00003663784 synonymous_variant -0.434004 0.14155 0.04143 0.554377 0.4685139 0 3.302444e-06 FALSE 2.44145e-05 ENSE00000844983_030 ENSE00000844983 030 20 44006137 44006306 - 42 75 53 A C 44006252 1435 55 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGAGGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 45377611 45377612 45377612 exon 2 0.02666667 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGAGGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT mutant NA NA NA NA NA 55 1091 0 0 0 0.9328376 0.7775485 0.943671 0.9414262 NA NA -0.943671 -0.9414262 0.8551931 0.9425486 NA -0.9425486 NA TRUE NA 0 -0.986 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW TP53TG5 HGNC 15856 ENST00000488588 3/4 1 NA CAT A,C 3.295e-05 20:45377612 TP53TG5 HGNC Symbol protein_coding 35326 ENSG00000124251 ENSE00003663784 missense_variant 1.522626 0.94271 0.16299 0.554377 0.9395385 0 3.302444e-06 FALSE 1.63139e-05 ENSE00000844983_031 ENSE00000844983 031 20 44006137 44006306 - 42 75 53 C T 44006262 1436 45 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTATCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 45377621 45377622 45377622 upstr_intron -9 -0.1509434 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTATCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT mutant NA NA NA NA NA 320 290 1 1 1 0.9328376 0.7775485 0.943671 0.9414262 NA NA 0.056329 0.05857383 0.8551931 0.9425486 NA 0.05745141 NA FALSE NA 0 -1.058 . intron_variant&non_coding_transcript_variant MODIFIER TP53TG5 HGNC 15856 ENST00000488588 2/3 1 NA ACA C,T 8.237e-06 20:45377622 TP53TG5 HGNC Symbol protein_coding 35326 ENSG00000124251 ENSE00003663784 intron_variant 0.393321 0.10838 0.01304 0.078448 0.7704255 0.16212 3.302444e-06 FALSE 4.09229e-06 ENSE00000846524_001 ENSE00000846524 001 2 70915126 70915295 - 30 99 41 T G 70915137 1507 159 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGCAAGTGGGCCCA 70687993 70688163 70688004 70688005 70688005 downstr_intron 19 1.655172 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGCAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 659 217 0.9994366 0.9909222 0.9951794 NA NA 0.988631 0.973112 NA NA 0.01080564 0.01781026 NA 0.9808715 NA 0.01430795 NA FALSE NA 0 -0.746 . intron_variant MODIFIER ADD2 HGNC 244 ENST00000413157 9/12 1 NA TTC T,G 0.0003624 2:70688005 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 intron_variant 0.328199 0.28596 0.09597 0.062308 0.6851518 0.0683433 0.9991752 TRUE 0.000545079 ENSE00000846524_002 ENSE00000846524 002 2 70915126 70915295 - 30 99 41 A G 70915140 1508 156 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCCGGAAAGTGGGCCCA 70687993 70688163 70688007 70688008 70688008 downstr_intron 16 1.551724 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCCGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 317 1053 1 0.998835 0.9994175 NA NA 0.988631 0.973112 NA NA 0.01136904 0.02572304 NA 0.9808715 NA 0.01854604 NA FALSE NA 0.001 2.027 . intron_variant MODIFIER ADD2 HGNC 244 ENST00000413157 9/12 1 NA CAG A,G 8.236e-06 2:70688008 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 intron_variant 0.504623 0.49525 0.70785 0.062308 0.7268395 0.0683433 0.9991752 TRUE 4.06699e-06 ENSE00000846524_003 ENSE00000846524 003 2 70915126 70915295 - 30 99 41 A G 70915160 1509 136 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGACACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688027 70688028 70688028 exon -5 0.959596 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGACACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 118 57 0.9907818 0.9993295 0.9950557 NA NA 0.988631 0.973112 NA NA 0.002150816 0.02621754 NA 0.9808715 NA 0.01418418 NA FALSE NA 0.999 5.143 . missense_variant MODERATE ADD2 HGNC 244 ENST00000413157 9/13 1 tolerated(0.24) benign(0.124) NA TAT A,G 1.647e-05 2:70688028 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 missense_variant 4.342601 0.98829 0.97289 0.706548 0.9113038 0 0.9991752 TRUE 4.0623e-06 ENSE00000846524_004 ENSE00000846524 004 2 70915126 70915295 - 30 99 41 T A 70915168 1510 128 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCTTGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688035 70688036 70688036 exon -13 0.8787879 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCTTGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 20 121 1 1 1 NA NA 0.988631 0.973112 NA NA 0.01136904 0.02688801 NA 0.9808715 NA 0.01912852 NA FALSE NA 0.042 -0.913 . synonymous_variant LOW ADD2 HGNC 244 ENST00000413157 9/13 1 NA ATG T,A 8.236e-06 2:70688036 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 synonymous_variant 2.043845 0.88159 0.1389 0.706548 0.7905159 0 0.9991752 TRUE 1.21846e-05 ENSE00000846524_005 ENSE00000846524 005 2 70915126 70915295 - 30 99 41 A G 70915171 1511 125 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCCGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688038 70688039 70688039 exon -16 0.8484848 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCCGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 487 258 0.999407 1 0.9997035 NA NA 0.988631 0.973112 NA NA 0.010776 0.02688801 NA 0.9808715 NA 0.01883201 NA FALSE NA 0.212 -0.276 . synonymous_variant LOW ADD2 HGNC 244 ENST00000413157 9/13 1 NA CAG A,G 8.236e-06 2:70688039 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 synonymous_variant 1.246664 0.95352 0.42698 0.706548 0.7641699 0 0.9991752 TRUE 4.06167e-06 ENSE00000846524_006 ENSE00000846524 006 2 70915126 70915295 - 30 99 41 C T 70915174 1512 122 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAAGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688041 70688042 70688042 exon -19 0.8181818 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAAGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 177 106 1 1 1 NA NA 0.988631 0.973112 NA NA 0.01136904 0.02688801 NA 0.9808715 NA 0.01912852 NA FALSE NA 1 3.156 . synonymous_variant LOW ADD2 HGNC 244 ENST00000413157 9/13 COSM4095362&COSM4095361&COSM4095363 1 NA CCT C,T 8.236e-06 2:70688042 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 synonymous_variant 1.822345 0.98966 0.95017 0.706548 0.8465534 0 0.9991752 TRUE 4.06131e-06 ENSE00000846524_010 ENSE00000846524 010 2 70915126 70915295 - 30 99 41 C A 70915230 1516 66 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGATTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688097 70688098 70688098 exon 25 0.2525253 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGATTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 523 1651 1 1 1 NA NA 0.988631 0.973112 NA NA 0.01136904 0.02688801 NA 0.9808715 NA 0.01912852 NA FALSE NA 0.85 1.779 rs139808041 missense_variant MODERATE ADD2 HGNC 244 ENST00000413157 9/13 1 tolerated(0.95) benign(0.026) NA ACT C,A 9.06e-05 2:70688098 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 missense_variant 1.671182 0.93301 0.84169 0.706548 0.8586942 0 0.9991752 TRUE 8.93524e-05 ENSE00000846524_015 ENSE00000846524 015 2 70915126 70915295 - 30 99 41 A G 70915271 1521 25 AGAGGACTTAAGGTTTTAATTGACCATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688138 70688139 70688139 upstr_intron -17 -0.3902439 AGAGGACTTAAGGTTTTAATTGACCATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 57 79 0.9992758 1 0.9996379 NA NA 0.988631 0.973112 NA NA 0.0106448 0.02688801 NA 0.9808715 NA 0.01876641 NA FALSE NA 0 -0.036 . intron_variant MODIFIER ADD2 HGNC 244 ENST00000413157 8/12 1 NA TAG A,G 8.236e-06 2:70688139 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 intron_variant 0.140412 0.24668 0.04785 0.062308 0.6610314 0.0647611 0.9991752 TRUE 2.87168e-05 ENSE00000846524_016 ENSE00000846524 016 2 70915126 70915295 - 30 99 41 T C 70915273 1522 23 AGAGGACTTAAGGTTTTAATTGGCTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688140 70688141 70688141 upstr_intron -19 -0.4390244 AGAGGACTTAAGGTTTTAATTGGCTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 183 155 1 0.9949333 0.9974667 NA NA 0.988631 0.973112 NA NA 0.01136904 0.02182132 NA 0.9808715 NA 0.01659518 NA FALSE NA 0 -0.437 . intron_variant MODIFIER ADD2 HGNC 244 ENST00000413157 8/12 1 NA GTC T,C 8.236e-06 2:70688141 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 intron_variant 0.277088 0.18551 0.00414 0.062308 0.7150036 0.0647611 0.9991752 TRUE 4.08804e-06 ENSE00000857479_009 ENSE00000857479 009 19 6161176 6161345 + 50 81 39 C G 6161240 434 65 CGCCCTCCCCTTTCCCCAGTGCCCACCTCCCACACTTACAGAGTACAAGTTGTTGTTCTTCTTCATTGGCAGTCTGTACTGGATGATCGCTTTTAGGGGCTCTAGCCTGCTCTGTGGAATCTGAAAGAAAGTTCCCTGTGGGCTTCATGGCAACCCAGCCCTGGGAAAGA 6161164 6161334 6161228 6161229 6161229 exon 15 0.1851852 TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGGCTAGAGCCCCTAAAAGCGATCATCCAGTACAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGCGATCATCCAGTACAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG mutant NA NA NA NA NA 138 199 1 0.9362278 0.9681139 0.9280975 0.9877962 0.9865922 0.9889719 NA NA 0.01340779 -0.05274404 0.9579469 0.987782 NA -0.01966812 NA FALSE NA 0 -0.706 . missense_variant&NMD_transcript_variant MODERATE ACSBG2 HGNC 24174 ENST00000587617 5/6 1 unknown(0) NA GCC C,G 4.942e-05 19:6161229 ACSBG2 HGNC Symbol protein_coding 57847 ENSG00000130377 ENSE00003612317 missense_variant -1.593265 0.1482 0.0027 0.428477 0.6571537 0 3.484414e-07 FALSE 3.65577e-05 ENSE00000857479_012 ENSE00000857479 012 19 6161176 6161345 + 50 81 39 C T 6161257 437 82 CGCCCTCCCCTTTCCCCAGTGCCCACCTCCCACACTTACAGAGTACAAGTTGTTGTTCTTCTTCATTGGCAGTCTGTACTGGATGATCACTTTTAGGGGCTCTAGGCTGCTCTGTGGAATCTGAAAGAAAGTTCCCTGTGGGCTTCATGGCAACCCAGCCCTGGGAAAGA 6161164 6161334 6161245 6161246 6161246 exon 32 0.3950617 TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGTGATCATCCAGTACAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGCGATCATCCAGTACAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG mutant NA NA NA NA NA 12 169 1 1 1 0.9280975 0.9877962 0.9865922 0.9889719 NA NA 0.01340779 0.01102812 0.9579469 0.987782 NA 0.01221795 NA FALSE NA 0.893 1.868 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ACSBG2 HGNC 24174 ENST00000587617 5/6 rs535431440 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCG C,T 6.589e-05 19:6161246 ACSBG2 HGNC Symbol protein_coding 57847 ENSG00000130377 ENSE00003612317 missense_variant 3.778238 0.91772 0.62282 0.428477 0.9983286 0 3.484414e-07 FALSE 8.93633e-05 ENSE00000857479_016 ENSE00000857479 016 19 6161176 6161345 + 50 81 39 A G 6161269 441 94 CGCCCTCCCCTTTCCCCAGTGCCCACCTCCCACACTTACAGAGTACAAGTTGTTGTTCTTCTTCATTGGCAGTCTGCACTGGATGATCGCTTTTAGGGGCTCTAGGCTGCTCTGTGGAATCTGAAAGAAAGTTCCCTGTGGGCTTCATGGCAACCCAGCCCTGGGAAAGA 6161164 6161334 6161257 6161258 6161258 exon -38 0.5432099 TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGCGATCATCCAGTGCAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGCGATCATCCAGTACAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG mutant NA NA NA NA NA 129 190 1 0.9890098 0.9945049 0.9280975 0.9877962 0.9865922 0.9889719 NA NA 0.01340779 3.789887e-05 0.9579469 0.987782 NA 0.006722845 NA FALSE NA 1 3.362 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ACSBG2 HGNC 24174 ENST00000587617 5/6 1 NA TAC A,G 1.647e-05 19:6161258 ACSBG2 HGNC Symbol protein_coding 57847 ENSG00000130377 ENSE00003612317 missense_variant 4.345905 0.9367 0.83039 0.568482 0.9969525 0 3.484414e-07 FALSE 1.62497e-05 ENSE00000857479_017 ENSE00000857479 017 19 6161176 6161345 + 50 81 39 G C 6161272 442 97 CGCCCTCCCCTTTCCCCAGTGCCCACCTCCCACACTTACAGAGTACAAGTTGTTGTTCTTCTTCATTGGCAGTGTGTACTGGATGATCGCTTTTAGGGGCTCTAGGCTGCTCTGTGGAATCTGAAAGAAAGTTCCCTGTGGGCTTCATGGCAACCCAGCCCTGGGAAAGA 6161164 6161334 6161260 6161261 6161261 exon -35 0.5802469 TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGCGATCATCCAGTACACACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG TCTTTCCCAGGGCTGGGTTGCCATGAAGCCCACAGGGAACTTTCTTTCAGATTCCACAGAGCAGCCTAGAGCCCCTAAAAGCGATCATCCAGTACAGACTGCCAATGAAGAAGAACAACAACTTGTACTCTGTAAGTGTGGGAGGTGGGCACTGGGGAAAGGGGAGGGCG mutant NA NA NA NA NA 241 101 0.9961626 0.8520896 0.9241261 0.9280975 0.9877962 0.9865922 0.9889719 NA NA 0.009570411 -0.1368823 0.9579469 0.987782 NA -0.06365595 NA FALSE NA 0.06 0.145 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER ACSBG2 HGNC 24174 ENST00000587617 5/6 1 NA AGA G,C 4.118e-05 19:6161261 ACSBG2 HGNC Symbol protein_coding 57847 ENSG00000130377 ENSE00003612317 missense_variant -1.113984 0.16441 0.09095 0.568482 0.6300838 0 3.484414e-07 FALSE 2.84398e-05 ENSE00000865703_004 ENSE00000865703 004 16 3729676 3729845 - 44 72 54 G A 3729693 208 153 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTTCCCCTTCCCCTCAGGGT 3679674 3679844 3679691 3679692 3679692 downstr_intron 27 1.627907 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTTCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 269 129 0.9956868 1 0.9978434 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.01105344 0.07587411 0.9461025 0.9543796 NA 0.04346377 NA FALSE NA 0 -0.751 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 rs372154780 1 NA GGA G,A 4.118e-05 16:3679692 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 intron_variant -0.050224 0.11449 0.00471 0.295142 0.6752563 0.0511317 1.620376e-17 FALSE 2.03472e-05 ENSE00000865703_005 ENSE00000865703 005 16 3729676 3729845 - 44 72 54 G T 3729703 209 143 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCAACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679701 3679702 3679702 downstr_intron 17 1.395349 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCAACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 495 131 1 1 1 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07587411 0.9461025 0.9543796 NA 0.04562035 NA FALSE NA 0.002 0.706 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 rs373493963 1 NA T:0.0002 T:0 TGG G,T 8.236e-06 16:3679702 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 intron_variant -0.238857 0.15856 0.09422 0.295142 0.4852409 0.0489367 1.620376e-17 FALSE 4.06729e-06 ENSE00000865703_007 ENSE00000865703 007 16 3729676 3729845 - 44 72 54 C T 3729709 211 137 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGAGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679707 3679708 3679708 downstr_intron 11 1.255814 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGAGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 16 890 1 0.9994665 0.9997333 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07534064 0.9461025 0.9543796 NA 0.04535362 NA FALSE NA 0 -0.523 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 rs377664068 1 NA T:0.0005 T:0 CCC C,T 8.236e-06 16:3679708 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 intron_variant 0.026301 0.1444 0.00261 0.295142 0.6199874 0.101014 1.620376e-17 FALSE 3.25275e-05 ENSE00000865703_010 ENSE00000865703 010 16 3729676 3729845 - 44 72 54 T C 3729717 214 129 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTGAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679715 3679716 3679716 downstr_intron 3 1.069767 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTGAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 287 106 0.9988472 0.9560191 0.9774331 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.01421378 0.03189322 0.9461025 0.9543796 NA 0.0230535 NA FALSE NA 0.671 -0.309 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA TTA T,C 8.236e-06 16:3679716 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 splice_region_variant 1.636314 0.95898 0.48065 0.295142 0.7954047 0.618316 1.620376e-17 FALSE 8.12678e-06 ENSE00000865703_011 ENSE00000865703 011 16 3729676 3729845 - 44 72 54 C G 3729727 215 119 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGCGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679725 3679726 3679726 exon -8 0.9027778 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGCGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 193 109 1 1 1 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07587411 0.9461025 0.9543796 NA 0.04562035 NA FALSE NA 1 7.099 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA CCC C,G 8.236e-06 16:3679726 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 missense_variant 6.189532 0.99231 0.99596 0.706548 0.9985678 0 1.620376e-17 FALSE 4.06319e-06 ENSE00000865703_012 ENSE00000865703 012 16 3729676 3729845 - 44 72 54 C T 3729729 216 117 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCAGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679727 3679728 3679728 exon -10 0.875 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCAGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 20 296 1 1 1 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07587411 0.9461025 0.9543796 NA 0.04562035 NA FALSE NA 0 -4.466 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 rs554176042 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 CCG C,T 4.118e-05 16:3679728 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 synonymous_variant 2.299515 0.36026 0.02648 0.706548 0.8189142 0 1.620376e-17 FALSE 3.25058e-05 ENSE00000865703_013 ENSE00000865703 013 16 3729676 3729845 - 44 72 54 T C 3729732 217 114 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGGTCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679730 3679731 3679731 exon -13 0.8333333 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGGTCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 147 23 0.9915531 0.8 0.8957765 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.006919659 -0.1241259 0.9461025 0.9543796 NA -0.05860312 NA FALSE NA 0.993 -0.05 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA ATC T,C 5.765e-05 16:3679731 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 synonymous_variant 0.519626 0.96171 0.62899 0.706548 0.8052503 0 1.620376e-17 FALSE 3.25002e-05 ENSE00000865703_014 ENSE00000865703 014 16 3729676 3729845 - 44 72 54 C A 3729737 218 109 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTTCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679735 3679736 3679736 exon -18 0.7638889 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTTCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 399 332 0.9996157 0.9951574 0.9973866 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.01498232 0.07103149 0.9461025 0.9543796 NA 0.0430069 NA FALSE NA 1 7.2 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 COSM326751 1 NA GCA C,A 1.647e-05 16:3679736 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 missense_variant 6.15187 0.9922 0.99099 0.706548 0.995973 0 1.620376e-17 FALSE 8.12519e-06 ENSE00000865703_017 ENSE00000865703 017 16 3729676 3729845 - 44 72 54 G A 3729742 221 104 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGATGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679740 3679741 3679741 exon -23 0.6944444 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGATGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 364 485 0.9201902 0.9995951 0.9598926 0.997346 0.894859 0.9846334 0.9241259 NA NA -0.0644432 0.07546918 0.9461025 0.9543796 NA 0.00551299 NA FALSE NA 1 9.103 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA CGT G,A 1.647e-05 16:3679741 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 missense_variant 5.355649 0.99148 0.99286 0.706548 0.9987668 0 1.620376e-17 FALSE 2.03115e-05 ENSE00000865703_018 ENSE00000865703 018 16 3729676 3729845 - 44 72 54 C G 3729745 222 101 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGCGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679743 3679744 3679744 exon -26 0.6527778 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGCGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 15 355 1 1 1 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07587411 0.9461025 0.9543796 NA 0.04562035 NA FALSE NA 1 7.2 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA CCC C,G 1.647e-05 16:3679744 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 missense_variant 5.130212 0.99211 0.99144 0.706548 0.9980217 0 1.620376e-17 FALSE 8.12447e-06 ENSE00000865703_025 ENSE00000865703 025 16 3729676 3729845 - 44 72 54 C A 3729777 229 69 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGTATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679775 3679776 3679776 exon 15 0.2083333 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGTATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 182 188 1 0.9997973 0.9998987 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07567142 0.9461025 0.9543796 NA 0.04551901 NA FALSE NA 0.664 -0.21 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA TCC C,A 8.236e-06 16:3679776 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 synonymous_variant 2.263113 0.96513 0.74807 0.706548 0.8342461 0 1.620376e-17 FALSE 4.06342e-06 ENSE00000865703_026 ENSE00000865703 026 16 3729676 3729845 - 44 72 54 C T 3729779 230 67 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCAGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679777 3679778 3679778 exon 13 0.1805556 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCAGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 125 303 1 1 1 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07587411 0.9461025 0.9543796 NA 0.04562035 NA FALSE NA 1 7.2 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA CCG C,T 2.471e-05 16:3679778 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 missense_variant 7.512194 0.99172 0.98904 0.706548 0.9989935 0 1.620376e-17 FALSE 8.12744e-06 ENSE00000865703_029 ENSE00000865703 029 16 3729676 3729845 - 44 72 54 T C 3729782 233 64 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTGTCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679780 3679781 3679781 exon 10 0.1388889 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTGTCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 324 83 1 0.9816897 0.9908449 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.05756381 0.9461025 0.9543796 NA 0.0364652 NA FALSE NA 0.994 0.823 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA ATA T,C 8.236e-06 16:3679781 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 missense_variant 0.99289 0.9756 0.83794 0.706548 0.909657 0 1.620376e-17 FALSE 8.12704e-06 ENSE00000865703_035 ENSE00000865703 035 16 3729676 3729845 - 44 72 54 G A 3729796 239 50 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCTTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679794 3679795 3679795 upstr_intron -5 -0.07407407 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCTTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 216 2066 1 0.9967332 0.9983666 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.0726073 0.9461025 0.9543796 NA 0.04398695 NA FALSE NA 0.956 0.557 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA AGG G,A 1.647e-05 16:3679795 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 splice_region_variant 1.750437 0.90394 0.32868 0.156188 0.8842816 0.442937 1.620376e-17 FALSE 4.0662e-06 ENSE00000865703_037 ENSE00000865703 037 16 3729676 3729845 - 44 72 54 C G 3729805 241 41 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCCTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679803 3679804 3679804 upstr_intron -14 -0.2407407 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCCTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 830 169 0.9995529 1 0.9997765 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0149195 0.07587411 0.9461025 0.9543796 NA 0.0453968 NA FALSE NA 0 -1.799 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 rs368607096 1 NA G:0 G:0.0001 ACG C,G 8.237e-06 16:3679804 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 3_prime_UTR_variant 0.450824 0.23668 0.00989 0.099367 0.7814397 0.219673 1.620376e-17 FALSE 4.0707e-06 ENSE00000865703_040 ENSE00000865703 040 16 3729676 3729845 - 44 72 54 C T 3729821 244 25 CACCCGGCTCCCCAGGTGCTGGGGACTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679819 3679820 3679820 upstr_intron -30 -0.537037 CACCCGGCTCCCCAGGTGCTGGGGACTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 15 169 1 1 1 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07587411 0.9461025 0.9543796 NA 0.04562035 NA FALSE NA 0 -0.435 . upstream_gene_variant MODIFIER TRAP1 HGNC 16264 ENST00000575854 1 NA GCC C,T 2.471e-05 16:3679820 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 3_prime_UTR_variant -0.019487 0.17354 0.00402 0.099367 0.4107487 0.0490229 1.620376e-17 FALSE 1.63816e-05 ENSE00000866318_002 ENSE00000866318 002 17 26913075 26913244 - 33 93 44 A G 26913091 1122 154 TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGACGGAGGTGGAGGCCTGT 28586056 28586226 28586072 28586073 28586073 downstr_intron 17 1.53125 TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGACGGAGGTGGAGGCCTGT TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT mutant NA NA NA NA NA 542 313 0.999924 1 0.999962 1 0.9995799 0.8407276 0.6632086 NA NA 0.1591965 0.3367914 0.9997899 0.7519681 NA 0.2479939 NA FALSE NA 0 0.485 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000577259 rs372166122 1 NA G:0 G:0.0001 CAT A,G 4.118e-05 17:28586073 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003704580 intron_variant 0.849019 0.22503 0.08172 0.295142 0.7304821 0.200024 7.256685e-06 FALSE 2.03059e-05 ENSE00000866318_014 ENSE00000866318 014 17 26913075 26913244 - 33 93 44 A G 26913184 1134 61 TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTACCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT 28586056 28586226 28586165 28586166 28586166 exon 17 0.1827957 TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTACCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT mutant NA NA NA NA NA 147 142 1 1 1 1 0.9995799 0.8407276 0.6632086 NA NA 0.1592724 0.3367914 0.9997899 0.7519681 NA 0.2480319 NA FALSE NA 0.061 0.773 rs141683368 upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000577259 rs141683368 1 NA G:0.0009 G:0 GAT A,G 5.765e-05 17:28586166 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003704580 missense_variant 0.47555 0.23926 0.10218 0.706548 0.8758246 0 7.256685e-06 FALSE 4.469e-05 ENSE00000866318_016 ENSE00000866318 016 17 26913075 26913244 - 33 93 44 T C 26913198 1136 47 TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAGTCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT 28586056 28586226 28586179 28586180 28586180 exon 3 0.03225806 TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAGTCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT mutant 14 31 0.9986612 0.9987964 0.9987288 NA NA NA NA NA 1 0.9995799 0.8407276 0.6632086 -0.001338844 -0.0007834778 NA NA 0.9997899 0.7519681 -0.001061161 NA NA NA FALSE 0.105 -2.022 rs59354593 upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000577259 rs59354593 1 C:0.0012 C:0.0045 C:0 NA C:0 C:0 C:0 C:0.0018 C:0 ATT T,C 0.0001647 17:28586180 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003704580 splice_region_variant -0.120978 0.63774 0.06744 0.706548 0.7277079 0 7.256685e-06 FALSE 0.000138163 ENSE00000866318_017 ENSE00000866318 017 17 26913075 26913244 - 33 93 44 G A 26913203 1137 42 TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTATAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT 28586056 28586226 28586184 28586185 28586185 upstr_intron -3 -0.04545455 TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTATAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT mutant 16 40 0.85 0.85 0.85 NA NA NA NA NA 1 0.9995799 0.8407276 0.6632086 -0.15 -0.1495799 NA NA 0.9997899 0.7519681 -0.1497899 NA NA NA FALSE 0.115 0.09 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000577259 1 NA TGT G,A 8.236e-06 17:28586185 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003704580 splice_region_variant 0.564218 0.24033 0.15584 0.156188 0.3680616 0.257061 7.256685e-06 FALSE 4.06815e-06 ENSE00000866318_018 ENSE00000866318 018 17 26913075 26913244 - 33 93 44 T C 26913220 1138 25 TAGTGACTTTATTTGATCTCACCTGCCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT 28586056 28586226 28586201 28586202 28586202 upstr_intron -20 -0.4318182 TAGTGACTTTATTTGATCTCACCTGCCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT mutant NA NA NA NA NA 43 76 1 1 1 1 0.9995799 0.8407276 0.6632086 NA NA 0.1592724 0.3367914 0.9997899 0.7519681 NA 0.2480319 NA FALSE NA 0 -0.065 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000577259 1 NA GTA T,C 8.237e-06 17:28586202 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003704580 intron_variant 0.255604 0.20675 0.09797 0.099367 0.6355938 0.0582627 7.256685e-06 FALSE 4.07488e-06 ENSE00000866318_020 ENSE00000866318 020 17 26913075 26913244 - 33 93 44 A C 26913233 1140 12 TAGTGACTTTAGTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT 28586056 28586226 28586214 28586215 28586215 upstr_intron -33 -0.7272727 TAGTGACTTTAGTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT TAGTGACTTTATTTGATCTCACCTACCCATTTTTTTCTCTACAGCAATCATGGGTGCTTATCTCTAAAGAGCTGATATCCTTGCTTCACCTATCCCTGTTGCATTTAGAAGAAGATAAGACTACTGTGAGTCAGGAGGTAAGCAGCCTGAAGATGGAGGTGGAGGCCTGT mutant NA NA NA NA NA 225 305 0.980359 1 0.9901795 1 0.9995799 0.8407276 0.6632086 NA NA 0.1396314 0.3367914 0.9997899 0.7519681 NA 0.2382114 NA FALSE NA 0.001 0.497 . upstream_gene_variant MODIFIER SPAG5 HGNC 13452 ENST00000577259 1 NA AAT A,C 8.238e-06 17:28586215 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003704580 intron_variant 1.819383 0.25991 0.21924 0.099367 0.8125568 0.0582627 7.256685e-06 FALSE 4.09984e-06 ENSE00000890958_001 ENSE00000890958 001 11 3060394 3060563 - 30 99 41 C T 3060421 159 143 GGTTTCTAGAGCAGACAGCAAGAGGCCTACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039190 3039191 3039191 downstr_intron 3 1.103448 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTAGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 1306 434 0.9988967 1 0.9994483 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01589619 0.02937907 0.9767516 0.9768107 NA 0.02263763 NA FALSE NA 0.874 0.73 rs149456532 splice_region_variant&intron_variant LOW CARS HGNC 1493 ENST00000278224 5/21 rs149456532 1 T:0.0040 T:0.0144 T:0.0014 NA T:0 T:0 T:0 T:0.0077 T:0.0001 CCA C,T 0.0009225 11:3039191 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 splice_region_variant 1.413158 0.97646 0.77264 0.256867 0.8188334 0.741078 2.962886e-06 FALSE 0.000682937 ENSE00000890958_006 ENSE00000890958 006 11 3060394 3060563 - 30 99 41 C T 3060460 164 104 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCTGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039229 3039230 3039230 exon -37 0.6363636 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCAGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 17 74 1 0.9736091 0.9868045 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.002988152 0.9767516 0.9768107 NA 0.009993835 NA FALSE NA 0 -5.345 . synonymous_variant LOW CARS HGNC 1493 ENST00000278224 5/22 rs573223137 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 4.942e-05 11:3039230 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 synonymous_variant 1.3954 0.12255 0.01292 0.736574 0.6531464 0 2.962886e-06 FALSE 5.2852e-05 ENSE00000890958_014 ENSE00000890958 014 11 3060394 3060563 - 30 99 41 C T 3060489 172 75 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTTGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039258 3039259 3039259 exon 34 0.3434343 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCAAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 174 417 1 1 1 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.02937907 0.9767516 0.9768107 NA 0.02318929 NA FALSE NA 0.992 2.806 . missense_variant MODERATE CARS HGNC 1493 ENST00000278224 5/22 1 tolerated(0.07) benign(0.134) NA TCG C,T 8.236e-06 11:3039259 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 2.501363 0.97842 0.94545 0.736574 0.9944125 0 2.962886e-06 FALSE 8.12797e-06 ENSE00000890958_019 ENSE00000890958 019 11 3060394 3060563 - 30 99 41 T A 3060501 177 63 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTACTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039270 3039271 3039271 exon 22 0.2222222 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGTACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 34 781 0.9416577 0.9971227 0.9693902 0.9716501 0.981853 0.9830005 0.9706209 NA NA -0.04134276 0.0265018 0.9767516 0.9768107 NA -0.007420482 NA FALSE NA 1 5.689 . missense_variant MODERATE CARS HGNC 1493 ENST00000278224 5/22 1 deleterious(0.02) benign(0.142) NA TTC T,A 8.236e-06 11:3039271 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 3.356563 0.98468 0.97748 0.736574 0.989763 0 2.962886e-06 FALSE 4.0655e-06 ENSE00000890958_020 ENSE00000890958 020 11 3060394 3060563 - 30 99 41 C T 3060505 178 59 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGTCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039274 3039275 3039275 exon 18 0.1818182 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGACAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 480 184 1 0.9815361 0.990768 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.01091512 0.9767516 0.9768107 NA 0.01395732 NA FALSE NA 1 0.587 . synonymous_variant LOW CARS HGNC 1493 ENST00000278224 5/22 rs199638803 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCC C,T 0.0001812 11:3039275 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 synonymous_variant 1.804133 0.961 0.61437 0.736574 0.868606 0 2.962886e-06 FALSE 0.000203307 ENSE00000890958_021 ENSE00000890958 021 11 3060394 3060563 - 30 99 41 G A 3060507 179 57 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCAGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039276 3039277 3039277 exon 16 0.1616162 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCTGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 102 310 1 0.9989783 0.9994891 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.02835736 0.9767516 0.9768107 NA 0.02267844 NA FALSE NA 1 4.224 rs149387799 missense_variant MODERATE CARS HGNC 1493 ENST00000278224 5/22 rs149387799 1 deleterious(0) probably_damaging(1) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0014 CGG G,A 0.0005765 11:3039277 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 7.304472 0.97489 0.93343 0.736574 0.9990811 0 2.962886e-06 FALSE 0.000642574 ENSE00000890958_022 ENSE00000890958 022 11 3060394 3060563 - 30 99 41 C G 3060510 180 54 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGGCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039279 3039280 3039280 exon 13 0.1313131 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGCCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 562 10 0.9642834 1 0.9821417 0.9716501 0.981853 0.9830005 0.9706209 NA NA -0.01871707 0.02937907 0.9767516 0.9768107 NA 0.005331003 NA FALSE NA 1 5.488 . missense_variant MODERATE CARS HGNC 1493 ENST00000278224 5/22 1 deleterious(0) probably_damaging(0.987) NA GCC C,G 8.236e-06 11:3039280 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 6.209408 0.98841 0.9824 0.736574 0.9968234 0 2.962886e-06 FALSE 4.06653e-06 ENSE00000890958_023 ENSE00000890958 023 11 3060394 3060563 - 30 99 41 C G 3060511 181 53 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCGCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039280 3039281 3039281 exon 12 0.1212121 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGCGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 102 519 1 0.9996952 0.9998476 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.02907422 0.9767516 0.9768107 NA 0.02303687 NA FALSE NA 1 0.959 . missense_variant MODERATE CARS HGNC 1493 ENST00000278224 5/22 1 deleterious(0) probably_damaging(0.995) NA CCC C,G 8.236e-06 11:3039281 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 5.302878 0.96464 0.89126 0.736574 0.9941779 0 2.962886e-06 FALSE 8.13292e-06 ENSE00000890958_024 ENSE00000890958 024 11 3060394 3060563 - 30 99 41 T C 3060515 182 49 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCCTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039284 3039285 3039285 exon 8 0.08080808 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAGGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 70 604 0.9774263 0.9987854 0.9881059 0.9716501 0.981853 0.9830005 0.9706209 NA NA -0.005574142 0.02816449 0.9767516 0.9768107 NA 0.01129517 NA FALSE NA 0.675 -0.19 . missense_variant MODERATE CARS HGNC 1493 ENST00000278224 5/22 1 tolerated(0.35) benign(0.025) NA CTT T,C 5.765e-05 11:3039285 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 0.152484 0.96253 0.57532 0.736574 0.952257 0 2.962886e-06 FALSE 3.65982e-05 ENSE00000890958_025 ENSE00000890958 025 11 3060394 3060563 - 30 99 41 A T 3060521 183 43 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGTTCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039290 3039291 3039291 exon 2 0.02020202 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGAACATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 34 55 0.9987833 0.984011 0.9913972 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.0157828 0.0133901 0.9767516 0.9768107 NA 0.01458645 NA FALSE NA 1 8.575 . missense_variant&splice_region_variant MODERATE CARS HGNC 1493 ENST00000278224 5/22 1 deleterious(0) probably_damaging(1) NA GAT A,T 8.236e-06 11:3039291 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 5.665926 0.99065 0.99181 0.736574 0.9937849 0 2.962886e-06 FALSE 4.06858e-06 ENSE00000890958_028 ENSE00000890958 028 11 3060394 3060563 - 30 99 41 G A 3060528 186 36 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGAAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039297 3039298 3039298 upstr_intron -6 -0.1219512 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTTCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 41 825 1 0.9914209 0.9957104 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.02079997 0.9767516 0.9768107 NA 0.01889974 NA FALSE NA 0 -1.033 . splice_region_variant&intron_variant LOW CARS HGNC 1493 ENST00000278224 4/21 rs372452160 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0 A:0.0001 GGA G,A 5.765e-05 11:3039298 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 splice_region_variant 0.048164 0.17466 0.03416 0.084033 0.8088168 0.118203 2.962886e-06 FALSE 8.54624e-05 ENSE00000890958_030 ENSE00000890958 030 11 3060394 3060563 - 30 99 41 T C 3060543 188 21 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACACTGGGGAGTGATGCTTGGATC 3039163 3039333 3039312 3039313 3039313 upstr_intron -21 -0.4878049 GATCCAAGCATCACTCCCCAGTGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 33 504 1 0.9886975 0.9943487 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.01807654 0.9767516 0.9768107 NA 0.01753803 NA FALSE NA 0 -0.709 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 4/21 1 NA ATT T,C 5.765e-05 11:3039313 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 intron_variant -0.118861 0.14273 0.00364 0.084033 0.5244925 0.111647 2.962886e-06 FALSE 2.85577e-05 ENSE00000890958_031 ENSE00000890958 031 11 3060394 3060563 - 30 99 41 G C 3060552 189 12 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTCATGCTTGGATC 3039163 3039333 3039321 3039322 3039322 upstr_intron -30 -0.7073171 GATCCAAGCATGACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 31 189 1 1 1 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.02937907 0.9767516 0.9768107 NA 0.02318929 NA FALSE NA 0 -1.943 . intron_variant MODIFIER CARS HGNC 1493 ENST00000278224 4/21 1 NA TGA G,C 8.236e-06 11:3039322 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 intron_variant -0.547428 0.0663 0.00433 0.084033 0.4628262 0.0853195 2.962886e-06 FALSE 4.10293e-06 ENSE00000894027_001 ENSE00000894027 001 19 11422767 11422936 + 48 84 38 T C 11422777 1068 11 CATAAGCCCCCAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312100 11312101 11312101 upstr_intron -38 -0.7708333 CATAAGCCCCCAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 152 181 0.1735948 0 0.08679742 0.9923118 0.9891015 0.9918361 0.9950608 NA NA -0.8182413 -0.9950608 0.9907067 0.9934485 NA -0.9066511 NA TRUE NA 0 0.583 rs192026480 intron_variant&NMD_transcript_variant MODIFIER TSPAN16 HGNC 30725 ENST00000337994 5/6 rs192026480 1 C:0.0060 C:0 C:0.0317 NA C:0.005 C:0.002 C:0.001 C:0.0011 C:0.0034 CTA T,C 0.005528 19:11312101 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 intron_variant -0.075498 0.13376 0.06398 0.06567 0.7337236 0.046323 0.0002522378 FALSE 0.0077646 ENSE00000894027_002 ENSE00000894027 002 19 11422767 11422936 + 48 84 38 C G 11422781 1069 15 CATAAGCCCCTAACGACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312104 11312105 11312105 upstr_intron -34 -0.6875 CATAAGCCCCTAACGACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 86 116 1 1 1 0.9923118 0.9891015 0.9918361 0.9950608 NA NA 0.008163882 0.004939156 0.9907067 0.9934485 NA 0.006551519 NA FALSE NA 0 0.113 . intron_variant&NMD_transcript_variant MODIFIER TSPAN16 HGNC 30725 ENST00000337994 5/6 1 NA CCA C,G 8.237e-06 19:11312105 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 intron_variant 0.120061 0.11888 0.03961 0.06567 0.6594929 0.046323 0.0002522378 FALSE 4.24437e-06 ENSE00000894027_003 ENSE00000894027 003 19 11422767 11422936 + 48 84 38 C T 11422790 1070 24 CATAAGCCCCTAACCACCTCCTGTTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312113 11312114 11312114 upstr_intron -25 -0.5 CATAAGCCCCTAACCACCTCCTGTTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 804 215 0.996499 1 0.9982495 0.9923118 0.9891015 0.9918361 0.9950608 NA NA 0.00466291 0.004939156 0.9907067 0.9934485 NA 0.004801033 NA FALSE NA 0 -0.525 . intron_variant&NMD_transcript_variant MODIFIER TSPAN16 HGNC 30725 ENST00000337994 5/6 1 NA GCT C,T 1.647e-05 19:11312114 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 intron_variant -0.010164 0.1662 0.02265 0.06567 0.412668 0.0455939 0.0002522378 FALSE 1.24053e-05 ENSE00000894027_005 ENSE00000894027 005 19 11422767 11422936 + 48 84 38 T G 11422797 1072 31 CATAAGCCCCTAACCACCTCCTGCTTGTTTGGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312120 11312121 11312121 upstr_intron -18 -0.3541667 CATAAGCCCCTAACCACCTCCTGCTTGTTTGGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 296 875 0.8252876 0.8269177 0.8261026 0.9923118 0.9891015 0.9918361 0.9950608 NA NA -0.1665485 -0.1681431 0.9907067 0.9934485 NA -0.1673458 NA FALSE NA 0 -0.166 . intron_variant&NMD_transcript_variant MODIFIER TSPAN16 HGNC 30725 ENST00000337994 5/6 1 NA TTG T,G 8.237e-06 19:11312121 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 intron_variant 0.104334 0.14864 0.01526 0.06567 0.4983731 0.121008 0.0002522378 FALSE 4.10368e-06 ENSE00000894027_010 ENSE00000894027 010 19 11422767 11422936 + 48 84 38 T C 11422826 1077 60 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCACAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312149 11312150 11312150 exon 12 0.1428571 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCACAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 91 30 1 1 1 0.9923118 0.9891015 0.9918361 0.9950608 NA NA 0.008163882 0.004939156 0.9907067 0.9934485 NA 0.006551519 NA FALSE NA 0.004 -0.972 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TSPAN16 HGNC 30725 ENST00000337994 6/7 1 NA ATA T,C 2.471e-05 19:11312150 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 synonymous_variant -1.742997 0.08795 0.00065 0.487112 0.288546 0 0.0002522378 FALSE 1.62925e-05 ENSE00000894027_011 ENSE00000894027 011 19 11422767 11422936 + 48 84 38 C T 11422859 1078 93 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTTACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312182 11312183 11312183 exon -40 0.5357143 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTTACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 71 132 1 1 1 0.9923118 0.9891015 0.9918361 0.9950608 NA NA 0.008163882 0.004939156 0.9907067 0.9934485 NA 0.006551519 NA FALSE NA 0 0.303 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TSPAN16 HGNC 30725 ENST00000337994 6/7 1 NA TCA C,T 1.647e-05 19:11312183 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 synonymous_variant 0.51571 0.19195 0.0359 0.487112 0.6264178 0 0.0002522378 FALSE 8.14697e-06 ENSE00000894027_013 ENSE00000894027 013 19 11422767 11422936 + 48 84 38 A T 11422883 1080 117 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGTGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312206 11312207 11312207 exon -16 0.8214286 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGTGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 14 167 0.95 0.804522 0.877261 0.9923118 0.9891015 0.9918361 0.9950608 NA NA -0.04183612 -0.1905388 0.9907067 0.9934485 NA -0.1161875 NA FALSE NA 0.233 0.051 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TSPAN16 HGNC 30725 ENST00000337994 6/7 1 NA GAG A,T 7.413e-05 19:11312207 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 synonymous_variant -1.050397 0.2172 0.02236 0.487112 0.5199691 0 0.0002522378 FALSE 8.19417e-05 ENSE00000894027_017 ENSE00000894027 017 19 11422767 11422936 + 48 84 38 T C 11422914 1084 148 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCCCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312237 11312238 11312238 downstr_intron 16 1.432432 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCCCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 45 70 1 1 1 0.9923118 0.9891015 0.9918361 0.9950608 NA NA 0.008163882 0.004939156 0.9907067 0.9934485 NA 0.006551519 NA FALSE NA 0 -0.469 . intron_variant&NMD_transcript_variant MODIFIER TSPAN16 HGNC 30725 ENST00000337994 6/6 rs376722300 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0009 C:0 CTC C,C 9.065e-05 19:11312238 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 3_prime_UTR_variant 0.041833 0.15084 0.01441 0.06567 0.5930587 0.0689414 0.0002522378 FALSE 6.85331e-05 ENSE00000897653_002 ENSE00000897653 002 19 44079029 44079198 - 33 93 44 G C 44079041 2583 158 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTGCTCCTCACTAGG 43574876 43575046 43574888 43574889 43574889 downstr_intron 21 1.65625 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTGCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 356 237 0.9308337 0.9576209 0.9442273 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.03280623 0.07660912 0.8872624 0.9223259 NA 0.02190144 NA FALSE NA 0 -0.495 . intron_variant MODIFIER XRCC1 HGNC 12828 ENST00000594107 2/5 1 NA GGA G,C 1.647e-05 19:43574889 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 non_coding_transcript_exon_variant 0.18772 0.18115 0.09582 0.12324 0.7415076 0.129949 1.447138e-07 FALSE 8.13425e-06 ENSE00000897653_006 ENSE00000897653 006 19 44079029 44079198 - 33 93 44 G T 44079051 2587 148 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCAACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574898 43574899 43574899 downstr_intron 11 1.34375 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCAACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 165 67 0.9977334 0.95 0.9738667 0.8835097 0.8910152 0.9636399 0.8810118 NA NA 0.03409347 0.06898819 0.8872624 0.9223259 NA 0.05154083 NA FALSE NA 0.043 1.082 . intron_variant MODIFIER XRCC1 HGNC 12828 ENST00000594107 2/5 rs375125630 1 NA T:0.0005 T:0 TGG G,T 1.647e-05 19:43574899 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 non_coding_transcript_exon_variant 0.2766 0.27049 0.17102 0.12324 0.7083262 0.182348 1.447138e-07 FALSE 8.13028e-06 ENSE00000897653_008 ENSE00000897653 008 19 44079029 44079198 - 33 93 44 A T 44079076 2589 123 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCACTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574923 43574924 43574924 exon -15 0.8494624 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCACTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 12 130 0.9734248 0.9945504 0.9839876 0.8835097 0.8910152 0.9636399 0.8810118 NA NA 0.009784883 0.1135386 0.8872624 0.9223259 NA 0.06166172 NA FALSE NA 1 5.169 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 rs532702063 1 tolerated(0.4) benign(0.03) T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GAG A,T 1.647e-05 19:43574924 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 4.371703 0.91626 0.93652 0.627647 0.9637162 0 1.447138e-07 FALSE 1.21874e-05 ENSE00000897653_009 ENSE00000897653 009 19 44079029 44079198 - 33 93 44 A G 44079078 2590 121 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCACCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574925 43574926 43574926 exon -17 0.827957 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCACCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 662 401 0.8663079 0.9772205 0.9217642 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.09733207 0.09620873 0.8872624 0.9223259 NA -0.0005616659 NA FALSE NA 1 5.169 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 1 tolerated(0.24) benign(0.049) NA GAT A,G 1.647e-05 19:43574926 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 4.633684 0.91432 0.93216 0.627647 0.9974251 0 1.447138e-07 FALSE 1.21914e-05 ENSE00000897653_011 ENSE00000897653 011 19 44079029 44079198 - 33 93 44 C T 44079091 2592 108 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAAGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574938 43574939 43574939 exon -30 0.688172 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAAGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 124 405 0.9996676 1 0.9998338 0.8835097 0.8910152 0.9636399 0.8810118 NA NA 0.03602771 0.1189882 0.8872624 0.9223259 NA 0.07750795 NA FALSE NA 0.991 4.384 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 1 deleterious(0.01) probably_damaging(0.987) NA CCT C,T 8.236e-06 19:43574939 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 6.823528 0.89095 0.81108 0.627647 0.9988546 0 1.447138e-07 FALSE NA ENSE00000897653_012 ENSE00000897653 012 19 44079029 44079198 - 33 93 44 T G 44079092 2593 107 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCCGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574939 43574940 43574940 exon -31 0.6774194 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCCGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 951 410 0.9950268 0.9980266 0.9965267 0.8835097 0.8910152 0.9636399 0.8810118 NA NA 0.03138687 0.1170148 0.8872624 0.9223259 NA 0.07420084 NA FALSE NA 0 -5.845 . synonymous_variant LOW XRCC1 HGNC 12828 ENST00000594107 2/6 1 NA CTG T,G 8.236e-06 19:43574940 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 synonymous_variant 2.25362 0.66938 0.04304 0.627647 0.8018231 0 1.447138e-07 FALSE 1.62505e-05 ENSE00000897653_014 ENSE00000897653 014 19 44079029 44079198 - 33 93 44 G A 44079102 2595 97 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGTAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574949 43574950 43574950 exon -41 0.5698925 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGTAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 265 743 0.8006079 0.655831 0.7282195 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.163032 -0.2251808 0.8872624 0.9223259 NA -0.1941064 NA FALSE NA 0.933 5.512 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 1 deleterious(0.02) benign(0.301) NA TGC G,A 8.236e-06 19:43574950 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 6.301281 0.907 0.83952 0.627647 0.9986049 0 1.447138e-07 FALSE 4.06451e-06 ENSE00000897653_015 ENSE00000897653 015 19 44079029 44079198 - 33 93 44 G A 44079106 2596 93 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGTGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574953 43574954 43574954 exon -45 0.5268817 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGTGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 1330 370 0.7987143 0.7892662 0.7939902 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.1649257 -0.09174565 0.8872624 0.9223259 NA -0.1283357 NA FALSE NA 0.998 1.37 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 rs552435216 1 deleterious(0) probably_damaging(0.944) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 8.236e-06 19:43574954 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 7.619622 0.90816 0.66779 0.627647 0.9991029 0 1.447138e-07 FALSE 4.0623e-06 ENSE00000897653_016 ENSE00000897653 016 19 44079029 44079198 - 33 93 44 G A 44079120 2597 79 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACATTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574967 43574968 43574968 exon 35 0.3763441 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACATTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 144 483 0.9640321 0.9743069 0.9691695 0.8835097 0.8910152 0.9636399 0.8810118 NA NA 0.0003921637 0.09329504 0.8872624 0.9223259 NA 0.0468436 NA FALSE NA 1 5.512 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 rs567686495 1 deleterious(0.04) benign(0.344) A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 AGT G,A 7.413e-05 19:43574968 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 5.331554 0.87623 0.81134 0.627647 0.9989532 0 1.447138e-07 FALSE 6.0929e-05 ENSE00000897653_019 ENSE00000897653 019 19 44079029 44079198 - 33 93 44 T A 44079123 2600 76 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGTCACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574970 43574971 43574971 exon 32 0.344086 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGTCACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 175 956 0.8293199 0.9537786 0.8915493 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.13432 0.07276683 0.8872624 0.9223259 NA -0.03077661 NA FALSE NA 1 4.502 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 1 deleterious(0) probably_damaging(0.94) NA GTC T,A 8.236e-06 19:43574971 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 5.727152 0.86184 0.78453 0.627647 0.9922907 0 1.447138e-07 FALSE 4.062e-06 ENSE00000897653_022 ENSE00000897653 022 19 44079029 44079198 - 33 93 44 G A 44079133 2603 66 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTTTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574980 43574981 43574981 exon 22 0.2365591 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTTTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 2731 505 0.7432273 0.8 0.7716136 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.2204127 -0.08101181 0.8872624 0.9223259 NA -0.1507122 NA FALSE NA 1 5.512 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 1 deleterious(0) probably_damaging(1) NA AGA G,A 8.236e-06 19:43574981 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 5.768517 0.87299 0.79446 0.627647 0.9986981 0 1.447138e-07 FALSE 4.06312e-06 ENSE00000897653_023 ENSE00000897653 023 19 44079029 44079198 - 33 93 44 T C 44079138 2604 61 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAGTCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574985 43574986 43574986 exon 17 0.1827957 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAGTCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 10 1404 0.95 0.9562879 0.9531439 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.01363993 0.07527607 0.8872624 0.9223259 NA 0.03081807 NA FALSE NA 1 3 . missense_variant MODERATE XRCC1 HGNC 12828 ENST00000594107 2/6 rs368913835 1 deleterious(0) probably_damaging(0.999) NA C:0.0005 C:0 ATT T,C 1.647e-05 19:43574986 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 5.212481 0.90464 0.76211 0.627647 0.9986326 0 1.447138e-07 FALSE 8.12698e-06 ENSE00000897653_024 ENSE00000897653 024 19 44079029 44079198 - 33 93 44 C G 44079165 2605 34 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTCTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43575012 43575013 43575013 upstr_intron -11 -0.2272727 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTCTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 404 359 0.9965892 0.9983939 0.9974915 0.8835097 0.8910152 0.9636399 0.8810118 NA NA 0.03294924 0.117382 0.8872624 0.9223259 NA 0.07516565 NA FALSE NA 0.004 0.111 . intron_variant MODIFIER XRCC1 HGNC 12828 ENST00000594107 1/5 1 NA ACA C,G 8.236e-06 19:43575013 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 intron_variant 1.700399 0.08838 0.004 0.078958 0.8344326 0.363721 1.447138e-07 FALSE 4.07574e-06 ENSE00000897653_025 ENSE00000897653 025 19 44079029 44079198 - 33 93 44 A G 44079174 2606 25 GTCATCTCTGTGCCCTAATTCTCCCCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43575021 43575022 43575022 upstr_intron -20 -0.4318182 GTCATCTCTGTGCCCTAATTCTCCCCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 191 273 0.6345597 0.7936347 0.7140972 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.3290803 -0.08737707 0.8872624 0.9223259 NA -0.2082287 NA FALSE NA 0 -0.106 . intron_variant MODIFIER XRCC1 HGNC 12828 ENST00000594107 1/5 rs373356505 1 NA G:0 G:0.0001 GAG A,G 8.237e-06 19:43575022 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 intron_variant 1.229093 0.15891 0.08031 0.078958 0.8411201 0.236517 1.447138e-07 FALSE 4.08981e-06 ENSE00000897653_026 ENSE00000897653 026 19 44079029 44079198 - 33 93 44 G C 44079185 2607 14 GTCATCTCTGTGCGCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43575032 43575033 43575033 upstr_intron -31 -0.6818182 GTCATCTCTGTGCGCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 818 1089 0.9639502 0.9821138 0.973032 0.8835097 0.8910152 0.9636399 0.8810118 NA NA 0.0003102649 0.101102 0.8872624 0.9223259 NA 0.05070613 NA FALSE NA 0.001 0.762 . intron_variant MODIFIER XRCC1 HGNC 12828 ENST00000594107 1/5 1 NA GGG G,C 8.237e-06 19:43575033 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 intron_variant -0.056827 0.19934 0.14598 0.078958 0.6993479 0.0615443 1.447138e-07 FALSE 4.12079e-06 ENSE00000906856_009 ENSE00000906856 009 20 36953116 36953285 + 60 60 50 A G 36953172 1156 57 CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTGCAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA 38324713 38324883 38324769 38324770 38324770 upstr_intron -4 -0.05 CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTGCAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA mutant NA NA NA NA NA 25 296 1 0.9623231 0.9811615 0.9541326 0.850053 0.9463886 0.8020872 NA NA 0.05361144 0.1602358 0.9020928 0.8742379 NA 0.1069236 NA FALSE NA 0.021 0.096 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2308N23.2 Clone_based_vega_gene NA ENST00000437016 1/2 1 NA TAC A,G 8.236e-06 20:38324770 AL359555.1 Clone-based (Ensembl) gene antisense 38205 ENSG00000206249 ENSE00003631358 splice_region_variant 1.194506 0.94127 0.07565 0.06567 0.8413628 0.091801 NA NA 1.21879e-05 ENSE00000906856_020 ENSE00000906856 020 20 36953116 36953285 + 60 60 50 T A 36953248 1167 133 CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCATGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA 38324713 38324883 38324845 38324846 38324846 downstr_intron 13 1.265306 CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCATGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA mutant NA NA NA NA NA 196 293 0.9130013 0.9930884 0.9530449 0.9541326 0.850053 0.9463886 0.8020872 NA NA -0.03338726 0.1910012 0.9020928 0.8742379 NA 0.07880698 NA FALSE NA 0 -0.331 . intron_variant&non_coding_transcript_variant MODIFIER CTD-2308N23.2 Clone_based_vega_gene NA ENST00000437016 1/2 1 NA CTT T,A 8.236e-06 20:38324846 AL359555.1 Clone-based (Ensembl) gene antisense 38205 ENSG00000206249 ENSE00003631358 intron_variant 0.286839 0.18447 0.03049 0.053691 0.6719599 0.0492488 NA NA 4.06303e-06 ENSE00000911610_001 ENSE00000911610 001 8 33353007 33353176 + 53 75 42 G C 33353017 750 11 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTGATTACTCATC 33495488 33495658 33495498 33495499 33495499 upstr_intron -43 -0.7924528 GATGAGTAATCAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 10 269 1 0.9987165 0.9993582 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.009533014 0.9995875 0.9797962 NA 0.01956204 NA FALSE NA 0 -0.831 . intron_variant MODIFIER MAK16 HGNC 13703 ENST00000360128 6/9 1 NA TGA G,C 8.236e-06 8:33495499 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 intron_variant -0.546651 0.17011 0.06429 0.156188 0.4513576 0.0917557 0.9939805 TRUE 8.43661e-06 ENSE00000911610_002 ENSE00000911610 002 8 33353007 33353176 + 53 75 42 A G 33353021 751 15 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGCGCTCATTACTCATC 33495488 33495658 33495502 33495503 33495503 upstr_intron -39 -0.7169811 GATGAGTAATGAGCGCTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 372 1133 1 0.9926009 0.9963004 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.003417435 0.9995875 0.9797962 NA 0.01650425 NA FALSE NA 0 0.675 . intron_variant MODIFIER MAK16 HGNC 13703 ENST00000360128 6/9 1 NA CAC A,G 8.236e-06 8:33495503 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 intron_variant 0.058499 0.1807 0.05158 0.156188 0.5597692 0.0917557 0.9939805 TRUE 4.16458e-06 ENSE00000911610_003 ENSE00000911610 003 8 33353007 33353176 + 53 75 42 C T 33353022 752 16 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAATGCTCATTACTCATC 33495488 33495658 33495503 33495504 33495504 upstr_intron -38 -0.6981132 GATGAGTAATGAGCATTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 566 3009 1 0.9935978 0.9967989 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.004414386 0.9995875 0.9797962 NA 0.01700273 NA FALSE NA 0 0.299 . intron_variant MODIFIER MAK16 HGNC 13703 ENST00000360128 6/9 rs377430166 1 NA T:0.0002 T:0 ACT C,T 8.236e-06 8:33495504 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 intron_variant 0.291216 0.20702 0.03093 0.156188 0.342884 0.0917557 0.9939805 TRUE 4.15953e-06 ENSE00000911610_006 ENSE00000911610 006 8 33353007 33353176 + 53 75 42 C G 33353045 755 39 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAACAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495526 33495527 33495527 upstr_intron -15 -0.2641509 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTGTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 1028 609 1 0.9963566 0.9981783 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.007173135 0.9995875 0.9797962 NA 0.0183821 NA FALSE NA 0 -0.32 . intron_variant MODIFIER MAK16 HGNC 13703 ENST00000360128 6/9 1 NA TCT C,G 8.236e-06 8:33495527 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 intron_variant 0.532515 0.29626 0.20307 0.156188 0.7318768 0.0735891 0.9939805 TRUE 4.09386e-06 ENSE00000911610_007 ENSE00000911610 007 8 33353007 33353176 + 53 75 42 T C 33353046 756 40 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAGGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495527 33495528 33495528 upstr_intron -14 -0.245283 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCCTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 77 733 0.8844715 0.9087589 0.8966152 0.9995592 0.9996158 0.9704089 0.9891835 NA NA -0.0859374 -0.08042451 0.9995875 0.9797962 NA -0.08318095 NA FALSE NA 0.01 1.338 . intron_variant MODIFIER MAK16 HGNC 13703 ENST00000360128 6/9 1 NA CTT T,C 8.236e-06 8:33495528 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 intron_variant 0.23653 0.18759 0.15668 0.156188 0.799643 0.0735891 0.9939805 TRUE 4.09293e-06 ENSE00000911610_010 ENSE00000911610 010 8 33353007 33353176 + 53 75 42 T C 33353057 759 51 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTGTAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495538 33495539 33495539 upstr_intron -3 -0.03773585 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTACAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 714 35 1 1 1 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.01081654 0.9995875 0.9797962 NA 0.02020381 NA FALSE NA 0 -1.189 rs193143811 splice_region_variant&intron_variant LOW MAK16 HGNC 13703 ENST00000360128 6/9 rs193143811 1 C:0.0008 C:0.0023 C:0 NA C:0 C:0 C:0.001 C:0.0016 C:0 ATA T,C 0.0002141 8:33495539 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 splice_region_variant 0.168864 0.28713 0.06164 0.156188 0.811136 0.128514 0.9939805 TRUE 0.000212224 ENSE00000911610_012 ENSE00000911610 012 8 33353007 33353176 + 53 75 42 C T 33353076 761 70 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAACTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495557 33495558 33495558 exon 17 0.2266667 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGTTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 19 226 1 0.9998314 0.9999157 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.01064797 0.9995875 0.9797962 NA 0.02011952 NA FALSE NA 1 7.267 rs151212971 missense_variant MODERATE MAK16 HGNC 13703 ENST00000360128 7/10 rs151212971 1 deleterious(0.02) probably_damaging(0.954) NA T:0.0002 T:0 GCT C,T 3.295e-05 8:33495558 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 missense_variant 7.432887 0.99201 0.98583 0.706548 0.9990115 0 0.9939805 TRUE 1.21985e-05 ENSE00000911610_013 ENSE00000911610 013 8 33353007 33353176 + 53 75 42 T C 33353077 762 71 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCGGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495558 33495559 33495559 exon 18 0.24 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCCGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 473 790 1 0.9958582 0.9979291 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.006674779 0.9995875 0.9797962 NA 0.01813293 NA FALSE NA 0.847 -0.154 . synonymous_variant LOW MAK16 HGNC 13703 ENST00000360128 7/10 1 NA CTG T,C 1.647e-05 8:33495559 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 synonymous_variant 0.987059 0.95685 0.74967 0.706548 0.8261839 0 0.9939805 TRUE 2.43954e-05 ENSE00000911610_014 ENSE00000911610 014 8 33353007 33353176 + 53 75 42 C A 33353081 763 75 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTTAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495562 33495563 33495563 exon 22 0.2933333 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTAAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 457 506 0.9998198 0.9893269 0.9945733 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02941083 0.0001433948 0.9995875 0.9797962 NA 0.01477711 NA FALSE NA 1 7.267 . missense_variant MODERATE MAK16 HGNC 13703 ENST00000360128 7/10 1 tolerated(0.9) benign(0.05) NA TCA C,A 6.589e-05 8:33495563 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 missense_variant 2.255891 0.99234 0.98875 0.706548 0.9304146 0 0.9939805 TRUE 8.1324e-05 ENSE00000911610_016 ENSE00000911610 016 8 33353007 33353176 + 53 75 42 A G 33353091 765 85 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCACTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495572 33495573 33495573 exon 32 0.4266667 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAGTGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 571 58 0.9959801 1 0.9979901 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02557122 0.01081654 0.9995875 0.9797962 NA 0.01819388 NA FALSE NA 1 5.577 . missense_variant MODERATE MAK16 HGNC 13703 ENST00000360128 7/10 1 tolerated(0.31) benign(0.035) NA AAT A,G 1.647e-05 8:33495573 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 missense_variant 2.007866 0.98337 0.97218 0.706548 0.9938589 0 0.9939805 TRUE 2.43928e-05 ENSE00000911610_017 ENSE00000911610 017 8 33353007 33353176 + 53 75 42 T C 33353092 766 86 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCGTTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495573 33495574 33495574 exon 33 0.44 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAACGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 181 306 1 1 1 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.01081654 0.9995875 0.9797962 NA 0.02020381 NA FALSE NA 0.295 -0.288 rs140385235 synonymous_variant LOW MAK16 HGNC 13703 ENST00000360128 7/10 rs140385235 1 NA C:0.0007 C:0 ATG T,C 3.295e-05 8:33495574 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 synonymous_variant 0.784235 0.95935 0.50819 0.706548 0.8377265 0 0.9939805 TRUE 2.43944e-05 ENSE00000911610_018 ENSE00000911610 018 8 33353007 33353176 + 53 75 42 G A 33353101 767 95 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTTTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495582 33495583 33495583 exon -34 0.56 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAAAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 621 12 0.995528 0.9604044 0.9779662 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.0251191 -0.02877907 0.9995875 0.9797962 NA -0.001829985 NA FALSE NA 1 2.16 . synonymous_variant LOW MAK16 HGNC 13703 ENST00000360128 7/10 1 NA AGA G,A 8.236e-06 8:33495583 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 synonymous_variant 1.669126 0.95742 0.80119 0.706548 0.7826174 0 0.9939805 TRUE 4.06593e-06 ENSE00000911610_021 ENSE00000911610 021 8 33353007 33353176 + 53 75 42 A C 33353128 770 122 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCGTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495609 33495610 33495610 exon -7 0.92 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACACGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 14 327 1 1 1 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.01081654 0.9995875 0.9797962 NA 0.02020381 NA FALSE NA 1 0.862 . missense_variant MODERATE MAK16 HGNC 13703 ENST00000360128 7/10 1 deleterious(0.05) benign(0.209) NA AAG A,C 8.236e-06 8:33495610 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 missense_variant 1.576839 0.96586 0.88467 0.706548 0.9611134 0 0.9939805 TRUE 1.62729e-05 ENSE00000911610_022 ENSE00000911610 022 8 33353007 33353176 + 53 75 42 A G 33353132 771 126 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGCATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495613 33495614 33495614 exon -3 0.9733333 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATGCGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 752 743 0.9939228 0.9987091 0.9963159 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02351383 0.009525661 0.9995875 0.9797962 NA 0.01651974 NA FALSE NA 1 5.796 . missense_variant&splice_region_variant MODERATE MAK16 HGNC 13703 ENST00000360128 7/10 1 tolerated(0.66) benign(0.042) NA TAC A,G 8.236e-06 8:33495614 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 missense_variant 2.46844 0.98245 0.9689 0.706548 0.9837459 0 0.9939805 TRUE 8.14332e-06 ENSE00000911610_023 ENSE00000911610 023 8 33353007 33353176 + 53 75 42 C T 33353133 772 127 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCATATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495614 33495615 33495615 exon -2 0.9866667 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATATGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 434 1110 1 0.9710822 0.9855411 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 -0.01810124 0.9995875 0.9797962 NA 0.005744916 NA FALSE NA 1 7.267 rs150362163 missense_variant&splice_region_variant MODERATE MAK16 HGNC 13703 ENST00000360128 7/10 rs150362163&COSM3899776 1 tolerated(0.08) benign(0.378) NA T:0 T:0.0001 ACG C,T 2.471e-05 8:33495615 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 missense_variant 4.686522 0.99174 0.98542 0.706548 0.9982273 0 0.9939805 TRUE 3.66521e-05 ENSE00000911610_024 ENSE00000911610 024 8 33353007 33353176 + 53 75 42 A G 33353141 773 135 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTCTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGGAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495622 33495623 33495623 downstr_intron 7 1.170732 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAGAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 112 217 0.9760946 0.9985845 0.9873396 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.005685664 0.009401068 0.9995875 0.9797962 NA 0.007543366 NA FALSE NA 0.961 0.42 . splice_region_variant&intron_variant LOW MAK16 HGNC 13703 ENST00000360128 7/9 1 NA AAA A,G 8.236e-06 8:33495623 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 splice_region_variant 1.138219 0.16977 0.12745 0.099367 0.7915805 0.187366 0.9939805 TRUE 8.14578e-06 ENSE00000919890_001 ENSE00000919890 001 12 52776189 52776358 - 32 96 42 A G 52776202 1711 157 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCCAGGGCACCCAAGG 52382404 52382574 52382417 52382418 52382418 downstr_intron 19 1.612903 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCCAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 2120 1686 0.9627306 0.9975684 0.9801495 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.02867652 0.05164411 0.9755988 0.9686657 NA 0.01148379 NA FALSE NA 0 -1.458 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs372610318 1 NA G:0.0002 G:0 TAG A,G 8.236e-06 12:52382418 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant 0.264793 0.1834 0.01922 0.06567 0.6453603 0.0462137 NA NA 4.06755e-06 ENSE00000919890_002 ENSE00000919890 002 12 52776189 52776358 - 32 96 42 G A 52776205 1712 154 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTTTCTAGGGCACCCAAGG 52382404 52382574 52382420 52382421 52382421 downstr_intron 16 1.516129 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTTTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 10 29 1 0.985633 0.9928165 665 1435 0.9988807 1 0.9994404 0.9865661 0.9646315 0.9914071 0.9459243 0.01343386 0.02100156 0.007473606 0.05407571 0.9755988 0.9686657 0.01721771 0.03077466 0.01355695 FALSE FALSE 0.002 -0.082 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA AGA G,A 8.236e-06 12:52382421 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant 0.092737 0.25274 0.09436 0.06567 0.6922845 0.066465 NA NA 4.06573e-06 ENSE00000919890_004 ENSE00000919890 004 12 52776189 52776358 - 32 96 42 C A 52776214 1714 145 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGTTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382429 52382430 52382430 downstr_intron 7 1.225806 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGTTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 1730 1064 0.9995949 1 0.9997974 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.008187789 0.05407571 0.9755988 0.9686657 NA 0.03113175 NA FALSE NA 0 -1.905 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA ACC C,A 3.295e-05 12:52382430 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 splice_region_variant 1.115598 0.17084 0.00578 0.06567 0.8451831 0.0756975 NA NA 2.84544e-05 ENSE00000919890_008 ENSE00000919890 008 12 52776189 52776358 - 32 96 42 A G 52776219 1718 140 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGCGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382434 52382435 52382435 downstr_intron 2 1.064516 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGCGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 173 134 0 0.01463369 0.007316847 337 435 0.0156156 0.003490227 0.009552913 0.9865661 0.9646315 0.9914071 0.9459243 -0.9865661 -0.9499978 -0.9757915 -0.9424341 0.9755988 0.9686657 -0.9682819 -0.9591128 0.009169162 TRUE TRUE 1 3.336 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA CAC A,G 8.236e-06 12:52382435 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 splice_donor_variant 4.60912 0.98558 0.96311 0.06567 0.9921841 0.819611 NA NA 4.06326e-06 ENSE00000919890_011 ENSE00000919890 011 12 52776189 52776358 - 32 96 42 G A 52776227 1721 132 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTATATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382442 52382443 52382443 exon -7 0.9375 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTATATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 932 1667 0.9849652 0.9968807 0.990923 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.006441864 0.05095642 0.9755988 0.9686657 NA 0.02225728 NA FALSE NA 0.259 0.694 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs374618344 1 A:0.0010 A:0 A:0 NA A:0.004 A:0 A:0.001 TGT G,A 0.0002965 12:52382443 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 synonymous_variant 0.118306 0.23511 0.02983 0.446893 0.7789582 0 NA NA 0.000239691 ENSE00000919890_012 ENSE00000919890 012 12 52776189 52776358 - 32 96 42 G A 52776234 1722 125 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAATGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382449 52382450 52382450 exon -14 0.8645833 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAATGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 34 26 0.85 0.85 0.85 1023 430 0.8860688 0.9908329 0.9384508 0.9865661 0.9646315 0.9914071 0.9459243 -0.1365661 -0.1146315 -0.1053383 0.0449086 0.9755988 0.9686657 -0.1255988 -0.03021486 0.09538394 FALSE FALSE 0 -0.141 rs149169317 intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs149169317 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 A:0.0002 A:0.0002 CGT G,A 0.0001894 12:52382450 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 3.617768 0.30481 0.17188 0.446893 0.9963365 0 NA NA 0.000142174 ENSE00000919890_013 ENSE00000919890 013 12 52776189 52776358 - 32 96 42 A G 52776248 1723 111 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATCGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382463 52382464 52382464 exon -28 0.71875 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATCGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 155 287 0.8875532 0.8943193 0.8909363 323 877 0.9985736 0.9900607 0.9943172 0.9865661 0.9646315 0.9914071 0.9459243 -0.09901294 -0.0703121 0.007166533 0.04413638 0.9755988 0.9686657 -0.08466252 0.02565146 0.110314 FALSE FALSE 0.867 0.136 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA CAA A,G 8.236e-06 12:52382464 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 synonymous_variant 0.632642 0.95958 0.42451 0.446893 0.7513502 0 NA NA 8.12328e-06 ENSE00000919890_014 ENSE00000919890 014 12 52776189 52776358 - 32 96 42 A G 52776249 1724 110 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAACTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382464 52382465 52382465 exon -29 0.7083333 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAACTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 247 127 1 1 1 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.00859289 0.05407571 0.9755988 0.9686657 NA 0.0313343 NA FALSE NA 0.941 4.498 rs143282401 intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs143282401 1 NA G:0.0005 G:0 AAT A,G 4.118e-05 12:52382465 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 3.197989 0.98207 0.97241 0.446893 0.9877651 0 NA NA 2.43698e-05 ENSE00000919890_016 ENSE00000919890 016 12 52776189 52776358 - 32 96 42 G A 52776262 1726 97 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCTTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382477 52382478 52382478 exon -42 0.5729167 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCTTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 721 1321 0.9374273 1 0.9687137 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.05397979 0.05407571 0.9755988 0.9686657 NA 4.795769e-05 NA FALSE NA 0.963 1.617 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA AGG G,A 8.236e-06 12:52382478 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 synonymous_variant 0.676377 0.32968 0.68973 0.446893 0.7833566 0 NA NA 4.06171e-06 ENSE00000919890_017 ENSE00000919890 017 12 52776189 52776358 - 32 96 42 G A 52776264 1727 95 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATATCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382479 52382480 52382480 exon -44 0.5520833 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATATCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 16 42 0.9840627 0.7892952 0.8866789 318 1042 0.9139445 0.790735 0.8523398 0.9865661 0.9646315 0.9914071 0.9459243 -0.00250343 -0.1753363 -0.0774626 -0.1551893 0.9755988 0.9686657 -0.08891986 -0.1163259 0.02740607 FALSE FALSE 0.001 -0.08 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA GGT G,A 8.236e-06 12:52382480 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 1.624613 0.32551 0.12195 0.446893 0.9960612 0 NA NA 4.06187e-06 ENSE00000919890_018 ENSE00000919890 018 12 52776189 52776358 - 32 96 42 T C 52776265 1728 94 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATGCCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382480 52382481 52382481 exon -45 0.5416667 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATGCCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 464 1785 0.9982125 0.9972234 0.997718 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.00680541 0.05129916 0.9755988 0.9686657 NA 0.02905228 NA FALSE NA 0 -2.525 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA GTA T,C 8.236e-06 12:52382481 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant -1.696561 0.17911 0.02407 0.446893 0.6044484 0 NA NA 8.12328e-06 ENSE00000919890_019 ENSE00000919890 019 12 52776189 52776358 - 32 96 42 C A 52776268 1729 91 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGTATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382483 52382484 52382484 exon -48 0.5104167 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGTATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 1335 288 0.8463417 0.8 0.8231708 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.1450654 -0.1459243 0.9755988 0.9686657 NA -0.1454949 NA FALSE NA 0.977 2.702 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA TCC C,A 1.647e-05 12:52382484 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 6.159394 0.9878 0.96589 0.446893 0.9938098 0 NA NA 8.12315e-06 ENSE00000919890_021 ENSE00000919890 021 12 52776189 52776358 - 32 96 42 G A 52776272 1731 87 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAATGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382487 52382488 52382488 exon 45 0.46875 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAATGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 48 49 0.85 0.85 0.85 2305 1510 0.946926 0.9444108 0.9456684 0.9865661 0.9646315 0.9914071 0.9459243 -0.1365661 -0.1146315 -0.04448114 -0.001513512 0.9755988 0.9686657 -0.1255988 -0.02299732 0.1026015 FALSE FALSE 0 -2.542 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs547883078&COSM4042829 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGT G,A 4.118e-05 12:52382488 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 synonymous_variant 1.249201 0.3392 0.03072 0.446893 0.8318915 0 NA NA 2.84315e-05 ENSE00000919890_022 ENSE00000919890 022 12 52776189 52776358 - 32 96 42 T C 52776273 1732 86 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAGCGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382488 52382489 52382489 exon 44 0.4583333 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAGCGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 586 477 0.998658 0.9992787 0.9989683 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.00725087 0.05335441 0.9755988 0.9686657 NA 0.03030264 NA FALSE NA 1 4.237 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs368914481&COSM940699 1 NA C:0 C:0.0001 GTT T,C 8.236e-06 12:52382489 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 4.639561 0.98536 0.94774 0.446893 0.9986496 0 NA NA 4.06161e-06 ENSE00000919890_023 ENSE00000919890 023 12 52776189 52776358 - 32 96 42 G T 52776276 1733 83 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGACAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382491 52382492 52382492 exon 41 0.4270833 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGACAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 809 218 1 1 1 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.00859289 0.05407571 0.9755988 0.9686657 NA 0.0313343 NA FALSE NA 0.996 0.76 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA GGC G,T 8.236e-06 12:52382492 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 5.882093 0.97698 0.66333 0.446893 0.9973616 0 NA NA 4.0618e-06 ENSE00000919890_024 ENSE00000919890 024 12 52776189 52776358 - 32 96 42 C T 52776280 1734 79 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCAAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382495 52382496 52382496 exon 37 0.3854167 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCAAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 163 149 1 0.9919505 0.9959752 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.00859289 0.04602616 0.9755988 0.9686657 NA 0.02730953 NA FALSE NA 0.964 0.937 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA TCG C,T 1.647e-05 12:52382496 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 5.964407 0.97134 0.67836 0.446893 0.9985372 0 NA NA 8.12354e-06 ENSE00000919890_025 ENSE00000919890 025 12 52776189 52776358 - 32 96 42 G A 52776281 1735 78 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTTGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382496 52382497 52382497 exon 36 0.375 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTTGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 486 480 0.9930226 0.9880105 0.9905166 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.001615474 0.04208626 0.9755988 0.9686657 NA 0.02185087 NA FALSE NA 0.291 -1.021 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 COSM4042830 1 NA CGA G,A 1.647e-05 12:52382497 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 synonymous_variant 1.036144 0.94264 0.0948 0.446893 0.8820645 0 NA NA 1.62473e-05 ENSE00000919890_026 ENSE00000919890 026 12 52776189 52776358 - 32 96 42 G A 52776283 1736 76 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATTTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382498 52382499 52382499 exon 34 0.3541667 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATTTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 387 184 0.9877704 1 0.9938852 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.003636746 0.05407571 0.9755988 0.9686657 NA 0.02521948 NA FALSE NA 1 2.213 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA AGA G,A 8.236e-06 12:52382499 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 5.449988 0.98269 0.91603 0.446893 0.998856 0 NA NA 4.06157e-06 ENSE00000919890_028 ENSE00000919890 028 12 52776189 52776358 - 32 96 42 G A 52776293 1738 66 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAATAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382508 52382509 52382509 exon 24 0.25 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAATAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 169 253 0.8236096 0.8152014 0.8194055 318 1092 0.9742263 0.8165815 0.8954039 0.9865661 0.9646315 0.9914071 0.9459243 -0.1629566 -0.1494301 -0.01718082 -0.1293428 0.9755988 0.9686657 -0.1561933 -0.07326181 0.0829315 FALSE FALSE 0 -0.415 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA TGT G,A 8.236e-06 12:52382509 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 synonymous_variant -0.218618 0.14344 0.01724 0.446893 0.8606936 0 NA NA 4.06197e-06 ENSE00000919890_029 ENSE00000919890 029 12 52776189 52776358 - 32 96 42 A T 52776308 1739 51 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGAAGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382523 52382524 52382524 exon 9 0.09375 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGAAGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 92 279 0.9949732 0.994788 0.9948806 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.003566048 0.04886366 0.9755988 0.9686657 NA 0.02621486 NA FALSE NA 0.002 -0.359 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA CAT A,T 9.06e-05 12:52382524 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 2.875702 0.29273 0.20184 0.446893 0.9829245 0 NA NA 0.000101559 ENSE00000919890_030 ENSE00000919890 030 12 52776189 52776358 - 32 96 42 C T 52776316 1740 43 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGAATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382531 52382532 52382532 exon 1 0.01041667 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGAATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 286 310 0.01829446 0.012642 0.01546823 NA NA NA NA NA 0.9865661 0.9646315 0.9914071 0.9459243 -0.9682717 -0.9519894 NA NA 0.9755988 0.9686657 -0.9601306 NA NA NA TRUE 1 5.245 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs371350001 1 NA T:0 T:0.0001 TCC C,T 8.236e-06 12:52382532 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 missense_variant 5.931366 0.99027 0.97817 0.446893 0.9990848 0 NA NA 4.06312e-06 ENSE00000919890_031 ENSE00000919890 031 12 52776189 52776358 - 32 96 42 T G 52776318 1741 41 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACCGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382533 52382534 52382534 upstr_intron -2 -0.02380952 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACCGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 232 59 0.005668137 0.01106439 0.008366266 84 442 0 0.01258675 0.006293373 0.9865661 0.9646315 0.9914071 0.9459243 -0.980898 -0.9535671 -0.9914071 -0.9333375 0.9755988 0.9686657 -0.9672325 -0.9623723 0.004860202 TRUE TRUE 1 7.145 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA CTG T,G 3.295e-05 12:52382534 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 splice_acceptor_variant 4.069066 0.99419 0.99184 0.06567 0.9945036 0.968427 NA NA 1.62591e-05 ENSE00000919890_032 ENSE00000919890 032 12 52776189 52776358 - 32 96 42 T A 52776320 1742 39 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATTCAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382535 52382536 52382536 upstr_intron -4 -0.07142857 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATTCAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 1055 399 0.9986661 0.9810457 0.9898559 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.007259018 0.03512139 0.9755988 0.9686657 NA 0.02119021 NA FALSE NA 0 -3.57 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA GTA T,A 8.236e-06 12:52382536 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 splice_region_variant 0.119072 0.30377 0.04282 0.06567 0.8503391 0.174221 NA NA 4.06392e-06 ENSE00000919890_033 ENSE00000919890 033 12 52776189 52776358 - 32 96 42 T C 52776322 1743 37 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTGTACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382537 52382538 52382538 upstr_intron -6 -0.1190476 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTGTACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 11 12 1 0.9932412 0.9966206 NA NA NA NA NA 0.9865661 0.9646315 0.9914071 0.9459243 0.01343386 0.02860972 NA NA 0.9755988 0.9686657 0.02102179 NA NA NA FALSE 0 -1.679 rs188614347 intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs188614347 1 C:0.0000 C:0 C:0 NA C:0 C:0 C:0 ATA T,C 3.295e-05 12:52382538 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 splice_region_variant -0.328548 0.24777 0.08781 0.06567 0.5691497 0.174221 NA NA 2.03227e-05 ENSE00000919890_034 ENSE00000919890 034 12 52776189 52776358 - 32 96 42 A G 52776323 1744 36 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTCATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382538 52382539 52382539 upstr_intron -7 -0.1428571 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTCATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 1141 182 0.7949821 0.7395507 0.7672664 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.196425 -0.2063736 0.9755988 0.9686657 NA -0.2013993 NA FALSE NA 0 -1.036 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA TAA A,G 8.236e-06 12:52382539 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 splice_region_variant -0.837295 0.14351 0.05828 0.06567 0.4435791 0.223352 NA NA 4.06458e-06 ENSE00000919890_035 ENSE00000919890 035 12 52776189 52776358 - 32 96 42 C G 52776327 1745 32 GTGCCCAGGCGATGAGTATTTATCCTTCTCTCTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382542 52382543 52382543 upstr_intron -11 -0.2380952 GTGCCCAGGCGATGAGTATTTATCCTTCTCTCTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 1093 257 0.9090325 1 0.9545163 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.08237459 0.05407571 0.9755988 0.9686657 NA -0.01414944 NA FALSE NA 0.756 0.414 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA ACA C,G 8.236e-06 12:52382543 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant 0.228431 0.17059 0.01745 0.06567 0.6305803 0.159535 NA NA 4.06497e-06 ENSE00000919890_036 ENSE00000919890 036 12 52776189 52776358 - 32 96 42 G A 52776329 1746 30 GTGCCCAGGCGATGAGTATTTATCCTTCTTTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382544 52382545 52382545 upstr_intron -13 -0.2857143 GTGCCCAGGCGATGAGTATTTATCCTTCTTTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 40 575 0.9822849 1 0.9911425 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.009122177 0.05407571 0.9755988 0.9686657 NA 0.02247677 NA FALSE NA 0.769 0.33 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA AGA G,A 8.236e-06 12:52382545 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant 0.371978 0.28889 0.46148 0.06567 0.7329937 0.159535 NA NA NA ENSE00000919890_037 ENSE00000919890 037 12 52776189 52776358 - 32 96 42 A T 52776332 1747 27 GTGCCCAGGCGATGAGTATTTATCCTACTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382547 52382548 52382548 upstr_intron -16 -0.3571429 GTGCCCAGGCGATGAGTATTTATCCTACTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant 161 180 0.7168654 0.8438372 0.7803513 1163 399 0.9579695 0.9645992 0.9612844 0.9865661 0.9646315 0.9914071 0.9459243 -0.2697007 -0.1207943 -0.03343759 0.01867494 0.9755988 0.9686657 -0.1952475 -0.007381325 0.1878662 FALSE FALSE 0.089 1.552 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA GAA A,T 8.236e-06 12:52382548 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant 0.040276 0.26141 0.17418 0.06567 0.7871464 0.160406 NA NA 4.06653e-06 ENSE00000919890_038 ENSE00000919890 038 12 52776189 52776358 - 32 96 42 G A 52776334 1748 25 GTGCCCAGGCGATGAGTATTTATCTTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382549 52382550 52382550 upstr_intron -18 -0.4047619 GTGCCCAGGCGATGAGTATTTATCTTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 433 1097 0.995643 1 0.9978215 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.004235875 0.05407571 0.9755988 0.9686657 NA 0.02915579 NA FALSE NA 0 0.578 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs375955660 1 NA A:0 A:0.0001 AGG G,A 8.236e-06 12:52382550 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant 0.276571 0.25007 0.09496 0.06567 0.7328523 0.160406 NA NA 1.62722e-05 ENSE00000919890_040 ENSE00000919890 040 12 52776189 52776358 - 32 96 42 C A 52776343 1750 16 GTGCCCAGGCGATGATTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382558 52382559 52382559 upstr_intron -27 -0.6190476 GTGCCCAGGCGATGATTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 1945 2206 0.9974205 0.999565 0.9984927 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.00601335 0.05364071 0.9755988 0.9686657 NA 0.02982703 NA FALSE NA 0 -0.071 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA ACT C,A 8.236e-06 12:52382559 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant 0.285448 0.23692 0.03854 0.06567 0.6605311 0.0899429 NA NA NA ENSE00000919890_041 ENSE00000919890 041 12 52776189 52776358 - 32 96 42 C T 52776345 1751 14 GTGCCCAGGCGATAAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382560 52382561 52382561 upstr_intron -29 -0.6666667 GTGCCCAGGCGATAAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 411 1382 0.9880011 0.9968549 0.992428 0.9865661 0.9646315 0.9914071 0.9459243 NA NA -0.003406034 0.05093064 0.9755988 0.9686657 NA 0.0237623 NA FALSE NA 0 -0.034 . intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 1 NA TCA C,T 8.236e-06 12:52382561 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant 0.330322 0.21214 0.02928 0.06567 0.6649115 0.0488523 NA NA 8.16907e-06 ENSE00000919890_043 ENSE00000919890 043 12 52776189 52776358 - 32 96 42 C T 52776348 1753 11 GTGCCCAGGCAATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382563 52382564 52382564 upstr_intron -32 -0.7380952 GTGCCCAGGCAATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 566 152 0.9989042 1 0.9994521 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.007497118 0.05407571 0.9755988 0.9686657 NA 0.03078641 NA FALSE NA 0 -2.892 rs143675690 intron_variant&non_coding_transcript_variant MODIFIER RP3-416H24.4 Clone_based_vega_gene NA ENST00000547174 1/1 rs143675690 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0011 T:0 TCG C,T 9.06e-05 12:52382564 AC078865.1 Clone-based (Ensembl) gene antisense 21947 ENSG00000258253 ENSE00000919890 intron_variant -0.149486 0.09438 0.00373 0.06567 0.4605791 0.0488523 NA NA 5.73432e-05 ENSE00000920428_016 ENSE00000920428 016 12 58194882 58195051 - 45 69 56 A C 58194951 2329 101 GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCCGCATCTCCCAGCTCTTCTTTTAATTGTTCATATGTTTTTCCTGCCTGAGAAGAAGAGAGAGAAAACACAGGATGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 57801167 57801168 57801168 exon -25 0.6521739 ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCGGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC mutant NA NA NA NA NA 32 34 1 1 1 0.9795391 0.9927101 0.9826942 0.92655 NA NA 0.01730577 0.07344995 0.9861246 0.9546221 NA 0.04537786 NA FALSE NA 0 -1.02 rs141546672 downstream_gene_variant MODIFIER AVIL HGNC 14188 ENST00000549753 rs141546672 1 NA CAG A,C 9.884e-05 12:57801168 AVIL HGNC Symbol protein_coding 21328 ENSG00000135407 ENSE00003573463 synonymous_variant -0.016146 0.16554 0.04235 0.554377 0.6403194 0 1.030363e-10 FALSE 7.73496e-05 ENSE00000920428_018 ENSE00000920428 018 12 58194882 58195051 - 45 69 56 A G 58194954 2331 98 GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCAGCGTCTCCCAGCTCTTCTTTTAATTGTTCATATGTTTTTCCTGCCTGAGAAGAAGAGAGAGAAAACACAGGATGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 57801170 57801171 57801171 exon -28 0.6086957 ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGACGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC mutant NA NA NA NA NA 490 139 0.99771 1 0.998855 0.9795391 0.9927101 0.9826942 0.92655 NA NA 0.01501582 0.07344995 0.9861246 0.9546221 NA 0.04423289 NA FALSE NA 0 -1.388 rs111647711 downstream_gene_variant MODIFIER AVIL HGNC 14188 ENST00000549753 rs111647711 1 G:0.0152 G:0 G:0.0014 NA G:0.003 G:0.001 G:0.0726 G:0.0002 G:0.0024 CAT A,G 0.011 12:57801171 AVIL HGNC Symbol protein_coding 21328 ENSG00000135407 ENSE00003573463 synonymous_variant 0.234336 0.15836 0.02082 0.554377 0.6185118 0 1.030363e-10 FALSE 0.00970364 ENSE00000920428_019 ENSE00000920428 019 12 58194882 58195051 - 45 69 56 C T 58194968 2332 84 GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCAGCATCTCCCAGCTCTTTTTTTAATTGTTCATATGTTTTTCCTGCCTGAGAAGAAGAGAGAGAAAACACAGGATGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 57801184 57801185 57801185 exon 28 0.4057971 ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAAAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC mutant NA NA NA NA NA 134 155 1 1 1 0.9795391 0.9927101 0.9826942 0.92655 NA NA 0.01730577 0.07344995 0.9861246 0.9546221 NA 0.04537786 NA FALSE NA 0 -0.144 . downstream_gene_variant MODIFIER AVIL HGNC 14188 ENST00000549753 1 NA TCT C,T 8.236e-06 12:57801185 AVIL HGNC Symbol protein_coding 21328 ENSG00000135407 ENSE00003573463 missense_variant 2.532168 0.96288 0.08136 0.554377 0.8832623 0 1.030363e-10 FALSE 1.2213e-05 ENSE00000920428_021 ENSE00000920428 021 12 58194882 58195051 - 45 69 56 G A 58194994 2334 58 GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCAGCATCTCCCAGCTCTTCTTTTAATTGTTCATATGTTTTTCCTACCTGAGAAGAAGAGAGAGAAAACACAGGATGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 57801210 57801211 57801211 exon 2 0.02898551 ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGTAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC mutant 128 179 0.85 0.85 0.85 NA NA NA NA NA 0.9795391 0.9927101 0.9826942 0.92655 -0.1295391 -0.1427101 NA NA 0.9861246 0.9546221 -0.1361246 NA NA NA FALSE 0.476 0.651 . downstream_gene_variant MODIFIER AVIL HGNC 14188 ENST00000549753 1 NA TGC G,A 8.237e-06 12:57801211 AVIL HGNC Symbol protein_coding 21328 ENSG00000135407 ENSE00003573463 missense_variant 2.508624 0.95979 0.741 0.475973 0.9732002 0 1.030363e-10 FALSE 4.07478e-06 ENSE00000920428_022 ENSE00000920428 022 12 58194882 58195051 - 45 69 56 A C 58194999 2335 53 GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCAGCATCTCCCAGCTCTTCTTTTAATTGTTCATATGTTTTTCCTGCCTGCGAAGAAGAGAGAGAAAACACAGGATGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 57801215 57801216 57801216 upstr_intron -4 -0.05357143 ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCGCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC mutant NA NA NA NA NA 111 14 1 1 1 0.9795391 0.9927101 0.9826942 0.92655 NA NA 0.01730577 0.07344995 0.9861246 0.9546221 NA 0.04537786 NA FALSE NA 0 -0.906 . downstream_gene_variant MODIFIER AVIL HGNC 14188 ENST00000549753 1 NA GAG A,C 8.236e-06 12:57801216 AVIL HGNC Symbol protein_coding 21328 ENSG00000135407 ENSE00003573463 splice_region_variant 0.702299 0.20281 0.0547 0.106106 0.8644992 0.310902 1.030363e-10 FALSE 4.07571e-06 ENSE00000920428_025 ENSE00000920428 025 12 58194882 58195051 - 45 69 56 A G 58195011 2338 41 GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCAGCATCTCCCAGCTCTTCTTTTAATTGTTCATATGTTTTTCCTGCCTGAGAAGAAGAGAGGGAAAACACAGGATGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 57801227 57801228 57801228 upstr_intron -16 -0.2678571 ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCCCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC mutant NA NA NA NA NA 63 330 1 0.9928924 0.9964462 0.9795391 0.9927101 0.9826942 0.92655 NA NA 0.01730577 0.06634234 0.9861246 0.9546221 NA 0.04182406 NA FALSE NA 0 0.827 . downstream_gene_variant MODIFIER AVIL HGNC 14188 ENST00000549753 rs372990826 1 NA G:0 G:0.0005 GAG A,G 2.471e-05 12:57801228 AVIL HGNC Symbol protein_coding 21328 ENSG00000135407 ENSE00003573463 non_coding_transcript_exon_variant 0.148289 0.16729 0.01784 0.106106 0.7023458 0.156438 1.030363e-10 FALSE 4.49038e-05 ENSE00000920428_028 ENSE00000920428 028 12 58194882 58195051 - 45 69 56 C T 58195019 2341 33 GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCAGCATCTCCCAGCTCTTCTTTTAATTGTTCATATGTTTTTCCTGCCTGAGAAGAAGAGAGAGAAAACATAGGATGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 57801235 57801236 57801236 upstr_intron -24 -0.4107143 ATGTCCCTCCCCTATAAGAAAGACCTCATCCTATGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC mutant NA NA NA NA NA 69 25 1 1 1 0.9795391 0.9927101 0.9826942 0.92655 NA NA 0.01730577 0.07344995 0.9861246 0.9546221 NA 0.04537786 NA FALSE NA 0.001 0.204 . downstream_gene_variant MODIFIER AVIL HGNC 14188 ENST00000549753 1 NA ACA C,T 1.647e-05 12:57801236 AVIL HGNC Symbol protein_coding 21328 ENSG00000135407 ENSE00003573463 non_coding_transcript_exon_variant 0.530014 0.28866 0.03786 0.106106 0.6057751 0.156438 1.030363e-10 FALSE 1.22682e-05 ENSE00000920428_029 ENSE00000920428 029 12 58194882 58195051 - 45 69 56 A G 58195023 2342 29 GGTTGCCCATGTGGCTGGCTTCTCCCAAGAGCGAACCCGACTCACAGCAGTGATTCGCATGATAGCAGCAGCATCTCCCAGCTCTTCTTTTAATTGTTCATATGTTTTTCCTGCCTGAGAAGAAGAGAGAGAAAACACAGGGTGAGGTCTTTCTTATAGGGGAGGGACAT 57801098 57801268 57801239 57801240 57801240 upstr_intron -28 -0.4821429 ATGTCCCTCCCCTATAAGAAAGACCTCACCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC ATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAGGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGTGAGTCGGGTTCGCTCTTGGGAGAAGCCAGCCACATGGGCAACC mutant NA NA NA NA NA 357 255 1 1 1 0.9795391 0.9927101 0.9826942 0.92655 NA NA 0.01730577 0.07344995 0.9861246 0.9546221 NA 0.04537786 NA FALSE NA 0.001 0.795 . downstream_gene_variant MODIFIER AVIL HGNC 14188 ENST00000549753 1 NA GAT A,G 8.236e-06 12:57801240 AVIL HGNC Symbol protein_coding 21328 ENSG00000135407 ENSE00003573463 non_coding_transcript_exon_variant 0.385506 0.28037 0.08784 0.106106 0.7970628 0.0870264 1.030363e-10 FALSE 4.09323e-06 ENSE00000920482_003 ENSE00000920482 003 12 58090017 58090186 + 41 99 30 T C 58090051 2289 35 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTCCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696267 57696268 57696268 upstr_intron -7 -0.1463415 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTCCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 81 639 0.8 0.800791 0.8003955 NA NA 0.7821192 0.802815 NA NA 0.01788083 -0.002023994 NA 0.7924671 NA 0.00792842 NA FALSE NA 0.022 0.263 rs114532828 splice_region_variant&intron_variant&NMD_transcript_variant LOW OS9 HGNC 16994 ENST00000550848 4/4 rs114532828 1 C:0.0164 C:0.0469 C:0.0058 NA C:0.006 C:0.004 C:0.0061 C:0.0447 C:0.0063 TTC T,C 0.009274 12:57696268 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 splice_region_variant 0.756116 0.23857 0.06617 0.295142 0.6865624 0.482969 1.131512e-07 FALSE 0.00820067 ENSE00000920482_006 ENSE00000920482 006 12 58090017 58090186 + 41 99 30 G A 58090074 2292 58 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCATCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696290 57696291 57696291 exon 17 0.1717172 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCATCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 684 1180 0.7968865 0.6684985 0.7326925 NA NA 0.7821192 0.802815 NA NA 0.01476736 -0.1343165 NA 0.7924671 NA -0.05977456 NA FALSE NA 1 3.429 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 COSM942177 1 NA CGT G,A 8.236e-06 12:57696291 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 5.527722 0.97948 0.88643 0.706548 0.9993699 0 1.131512e-07 FALSE 2.04013e-05 ENSE00000920482_007 ENSE00000920482 007 12 58090017 58090186 + 41 99 30 C T 58090082 2293 66 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAATGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696298 57696299 57696299 exon 25 0.2525253 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAATGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 108 64 0.8 0.8 0.8 NA NA 0.7821192 0.802815 NA NA 0.01788083 -0.002814957 NA 0.7924671 NA 0.007532939 NA FALSE NA 1 5.026 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 COSM1989646 1 NA ACG C,T 3.295e-05 12:57696299 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 8.009519 0.98771 0.94366 0.706548 0.9994473 0 1.131512e-07 FALSE 2.44527e-05 ENSE00000920482_008 ENSE00000920482 008 12 58090017 58090186 + 41 99 30 G A 58090083 2294 67 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACACTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696299 57696300 57696300 exon 26 0.2626263 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACACTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 616 284 0.803656 0.8259906 0.8148233 NA NA 0.7821192 0.802815 NA NA 0.02153683 0.02317566 NA 0.7924671 NA 0.02235625 NA FALSE NA 1 8.734 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 COSM4043928 1 NA CGC G,A 1.647e-05 12:57696300 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 7.475884 0.993 0.98383 0.706548 0.9995753 0 1.131512e-07 FALSE 1.22274e-05 ENSE00000920482_012 ENSE00000920482 012 12 58090017 58090186 + 41 99 30 C T 58090098 2298 82 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGATCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696314 57696315 57696315 exon 41 0.4141414 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGATCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant 29 103 0 0 0 NA NA NA NA NA NA NA 0.7821192 0.802815 NA NA NA NA NA 0.7924671 NA NA NA NA NA 0.899 0.846 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 rs200411252 1 NA T:0 T:0.0001 ACC C,T 0.0004612 12:57696315 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 2.684733 0.97503 0.68747 0.706548 0.9906588 0 1.131512e-07 FALSE 0.000488218 ENSE00000920482_014 ENSE00000920482 014 12 58090017 58090186 + 41 99 30 A G 58090107 2300 91 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAGTGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696323 57696324 57696324 exon -50 0.5050505 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAGTGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant 40 37 0 0 0 NA NA NA NA NA NA NA 0.7821192 0.802815 NA NA NA NA NA 0.7924671 NA NA NA NA NA 1 8.265 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 1 NA AAT A,G 8.236e-06 12:57696324 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 5.473656 0.99116 0.98206 0.706548 0.9987888 0 1.131512e-07 FALSE 2.03389e-05 ENSE00000920482_015 ENSE00000920482 015 12 58090017 58090186 + 41 99 30 G C 58090117 2301 101 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAACTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696333 57696334 57696334 exon -40 0.6060606 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAACTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 425 66 0.980705 0.9882353 0.9844702 NA NA 0.7821192 0.802815 NA NA 0.1985859 0.1854203 NA 0.7924671 NA 0.1920031 NA FALSE NA 1 2.064 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 1 NA AGT G,C 8.236e-06 12:57696334 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 4.012705 0.97909 0.89444 0.706548 0.9972075 0 1.131512e-07 FALSE 4.07106e-06 ENSE00000920482_016 ENSE00000920482 016 12 58090017 58090186 + 41 99 30 C T 58090120 2302 104 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGTGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696336 57696337 57696337 exon -37 0.6363636 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGTGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant 46 41 0.08298435 0 0.04149217 NA NA NA NA NA NA NA 0.7821192 0.802815 NA NA NA NA NA 0.7924671 NA NA NA NA NA 0.58 -0.355 rs142035564 downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 rs142035564 1 T:0.0006 T:0 T:0 NA T:0.003 T:0 T:0 T:0.0002 T:0.0001 GCG C,T 0.0005436 12:57696337 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 synonymous_variant 2.121429 0.95677 0.11905 0.706548 0.8747044 0 1.131512e-07 FALSE 0.000460413 ENSE00000920482_017 ENSE00000920482 017 12 58090017 58090186 + 41 99 30 G A 58090121 2303 105 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCAACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696337 57696338 57696338 exon -36 0.6464646 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCAACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 185 61 0.8978567 0.8 0.8489284 NA NA 0.7821192 0.802815 NA NA 0.1157376 -0.002814957 NA 0.7924671 NA 0.0564613 NA FALSE NA 1 6.948 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 1 NA CGA G,A 2.471e-05 12:57696338 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 4.353185 0.98902 0.96779 0.706548 0.9990487 0 1.131512e-07 FALSE 2.44401e-05 ENSE00000920482_020 ENSE00000920482 020 12 58090017 58090186 + 41 99 30 C T 58090136 2306 120 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGTCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696352 57696353 57696353 exon -21 0.7979798 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGTCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant 31 12 0.85 0.85 0.85 376 340 0.8 0.7948826 0.7974413 NA NA 0.7821192 0.802815 NA NA 0.01788083 -0.007932372 NA 0.7924671 NA 0.004974231 NA FALSE NA 1 3.843 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 1 NA GCC C,T 1.647e-05 12:57696353 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 3.567274 0.98854 0.96226 0.706548 0.9990239 0 1.131512e-07 FALSE 8.17628e-06 ENSE00000920482_021 ENSE00000920482 021 12 58090017 58090186 + 41 99 30 C T 58090137 2307 121 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCTCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696353 57696354 57696354 exon -20 0.8080808 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCTCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant 33 82 0.85 0.85 0.85 445 129 0.9674213 0.9735066 0.9704639 NA NA 0.7821192 0.802815 NA NA 0.1853021 0.1706916 NA 0.7924671 NA 0.1779969 NA FALSE NA 1 6.878 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 COSM236527 1 NA CCC C,T 8.237e-06 12:57696354 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 7.171103 0.99317 0.99103 0.706548 0.9989211 0 1.131512e-07 FALSE 4.086e-06 ENSE00000920482_022 ENSE00000920482 022 12 58090017 58090186 + 41 99 30 C T 58090138 2308 122 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCTCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696354 57696355 57696355 exon -19 0.8181818 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCTCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant 185 16 0 0 0 31 805 0.009869796 0 0.004934898 NA NA 0.7821192 0.802815 NA NA -0.7722494 -0.802815 NA 0.7924671 NA -0.7875322 NA TRUE NA 0.997 0.494 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 rs541355644 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCC C,T 1.647e-05 12:57696355 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 synonymous_variant 1.97658 0.98047 0.8755 0.706548 0.9026376 0 1.131512e-07 FALSE 4.08383e-06 ENSE00000920482_025 ENSE00000920482 025 12 58090017 58090186 + 41 99 30 G A 58090148 2311 132 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCAAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696364 57696365 57696365 exon -9 0.9191919 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCAAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 76 1406 0.8746808 0.804897 0.8397889 NA NA 0.7821192 0.802815 NA NA 0.09256162 0.002082082 NA 0.7924671 NA 0.04732185 NA FALSE NA 1 8.67 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 rs374072809 1 NA A:0 A:0.0001 CGA G,A 2.471e-05 12:57696365 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 missense_variant 7.586154 0.99332 0.99452 0.706548 0.9993708 0 1.131512e-07 FALSE 2.05624e-05 ENSE00000920482_027 ENSE00000920482 027 12 58090017 58090186 + 41 99 30 G A 58090159 2313 143 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTAAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696375 57696376 57696376 downstr_intron 3 1.103448 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTAAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 47 65 1 0.9970178 0.9985089 NA NA 0.7821192 0.802815 NA NA 0.2178808 0.1942028 NA 0.7924671 NA 0.2060418 NA FALSE NA 1 1.824 . downstream_gene_variant MODIFIER OS9 HGNC 16994 ENST00000550848 1 NA TGA G,A 8.237e-06 12:57696376 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 splice_region_variant 0.912432 0.96646 0.75781 0.156188 0.7970249 0.397906 1.131512e-07 FALSE 8.42865e-06 ENSE00000924492_001 ENSE00000924492 001 15 81234545 81234714 + 47 87 36 A C 81234560 2242 16 TGACTACCCAAACCTCACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942218 80942219 80942219 upstr_intron -32 -0.6595745 TGACTACCCAAACCTCACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 542 141 0.9968752 1 0.9984376 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.002078201 0.05425744 0.9914735 0.9702698 NA 0.02816782 NA FALSE NA 0 -0.638 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 1 NA TAA A,C 8.236e-06 15:80942219 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 intron_variant -0.248799 0.13694 0.03875 0.156188 0.451596 0.0641646 NA NA 8.12533e-06 ENSE00000924492_004 ENSE00000924492 004 15 81234545 81234714 + 47 87 36 C T 81234604 2245 60 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACTATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942262 80942263 80942263 exon 13 0.1494253 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACTATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 213 795 1 1 1 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.005203015 0.05425744 0.9914735 0.9702698 NA 0.02973023 NA FALSE NA 1 6.718 rs140790232 upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 rs140790232 1 T:0.0012 T:0 T:0.0014 NA T:0 T:0.003 T:0.002 T:0.0005 T:0.0026 CCA C,T 0.001647 15:80942263 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 missense_variant 4.636664 0.99425 0.99468 0.562547 0.9906561 0 NA NA 0.00163677 ENSE00000924492_005 ENSE00000924492 005 15 81234545 81234714 + 47 87 36 G A 81234615 2246 71 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAAGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942273 80942274 80942274 exon 24 0.2758621 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAAGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 14 55 1 0.9971833 0.9985917 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.005203015 0.05144075 0.9914735 0.9702698 NA 0.02832188 NA FALSE NA 1 1.475 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 COSM3504478 1 NA AGG G,A 8.236e-06 15:80942274 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 missense_variant 0.827929 0.97255 0.77551 0.562547 0.8791596 0 NA NA 4.06111e-06 ENSE00000924492_006 ENSE00000924492 006 15 81234545 81234714 + 47 87 36 G A 81234618 2247 74 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTAAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942276 80942277 80942277 exon 27 0.3103448 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTAAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 1306 568 0.9996213 0.9994427 0.999532 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.004824268 0.05370016 0.9914735 0.9702698 NA 0.02926221 NA FALSE NA 1 0.883 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 1 NA TGA G,A 4.118e-05 15:80942277 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 stop_retained_variant 1.143049 0.97057 0.88866 0.562547 0.7670653 0 NA NA 2.84278e-05 ENSE00000924492_010 ENSE00000924492 010 15 81234545 81234714 + 47 87 36 C T 81234652 2251 108 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACTTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942310 80942311 80942311 exon -27 0.7011494 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACTTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 197 312 1 0.9937902 0.9968951 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.005203015 0.04804764 0.9914735 0.9702698 NA 0.02662533 NA FALSE NA 1 3.143 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 1 NA CCT C,T 1.647e-05 15:80942311 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 missense_variant 4.197663 0.98163 0.95757 0.562547 0.9982118 0 NA NA 1.62442e-05 ENSE00000924492_012 ENSE00000924492 012 15 81234545 81234714 + 47 87 36 T C 81234664 2253 120 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACCTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942322 80942323 80942323 exon -15 0.8390805 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACCTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 188 288 1 0.9540527 0.9770264 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.005203015 0.008310152 0.9914735 0.9702698 NA 0.006756583 NA FALSE NA 1 0.92 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 1 NA CTT T,C 8.236e-06 15:80942323 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 missense_variant 0.258179 0.87088 0.86072 0.562547 0.6807652 0 NA NA 4.06111e-06 ENSE00000924492_013 ENSE00000924492 013 15 81234545 81234714 + 47 87 36 C T 81234666 2254 122 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTTGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942324 80942325 80942325 exon -13 0.862069 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTTGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 486 49 0.998894 1 0.999447 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.004096973 0.05425744 0.9914735 0.9702698 NA 0.02917721 NA FALSE NA 0.01 -1.234 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 rs371548654 1 NA T:0 T:0.0001 TCG C,T 1.647e-05 15:80942325 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 synonymous_variant 1.302871 0.12104 0.00625 0.562547 0.7639138 0 NA NA 1.21839e-05 ENSE00000924492_014 ENSE00000924492 014 15 81234545 81234714 + 47 87 36 G A 81234667 2255 123 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCACTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942325 80942326 80942326 exon -12 0.8735632 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCACTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 740 55 1 0.8335117 0.9167558 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.005203015 -0.1122309 0.9914735 0.9702698 NA -0.05351394 NA FALSE NA 1 4.506 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 COSM4057262 1 NA CGC G,A 1.647e-05 15:80942326 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 missense_variant 2.885889 0.98317 0.98434 0.562547 0.994893 0 NA NA 2.03074e-05 ENSE00000924492_015 ENSE00000924492 015 15 81234545 81234714 + 47 87 36 A G 81234677 2256 133 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGGAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942335 80942336 80942336 exon -2 0.9885057 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGGAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 203 284 1 1 1 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.005203015 0.05425744 0.9914735 0.9702698 NA 0.02973023 NA FALSE NA 1 4.986 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 1 NA GAA A,G 4.118e-05 15:80942336 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 missense_variant 1.914883 0.8713 0.97749 0.562547 0.9936099 0 NA NA 4.06147e-05 ENSE00000924492_016 ENSE00000924492 016 15 81234545 81234714 + 47 87 36 G A 81234683 2257 139 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAATGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942341 80942342 80942342 downstr_intron 5 1.142857 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAATGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 139 195 1 1 1 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.005203015 0.05425744 0.9914735 0.9702698 NA 0.02973023 NA FALSE NA 1 4.366 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 1 NA AGT G,A 2.471e-05 15:80942342 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 splice_region_variant 0.598137 0.55551 0.48362 0.156188 0.6018816 0.941998 NA NA 1.21852e-05 ENSE00000924492_017 ENSE00000924492 017 15 81234545 81234714 + 47 87 36 C T 81234689 2258 145 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTTTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942347 80942348 80942348 downstr_intron 11 1.314286 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTTTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 363 488 0.9975946 0.9959533 0.9967739 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.002797627 0.05021072 0.9914735 0.9702698 NA 0.02650418 NA FALSE NA 0 -0.356 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 1 NA TCT C,T 8.236e-06 15:80942348 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 intron_variant 0.443462 0.24494 0.01382 0.156188 0.8676462 0.122059 NA NA 4.06233e-06 ENSE00000924492_018 ENSE00000924492 018 15 81234545 81234714 + 47 87 36 G C 81234699 2259 155 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGCAGGATTCGGGTTTGC 80942203 80942373 80942357 80942358 80942358 downstr_intron 21 1.6 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGCAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 696 457 1 0.9782835 0.9891418 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.005203015 0.03254096 0.9914735 0.9702698 NA 0.01887199 NA FALSE NA 0 -2.54 . upstream_gene_variant MODIFIER KIAA1199 HGNC 29213 ENST00000559966 1 NA GGA G,C 8.236e-06 15:80942358 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 intron_variant -0.209857 0.0931 0.00171 0.156188 0.6458326 0.046323 NA NA 4.06501e-06 ENSE00000926455_002 ENSE00000926455 002 9 100077091 100077260 + 42 96 32 G T 100077114 1029 24 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACAATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314831 97314832 97314832 upstr_intron -19 -0.4285714 CCAGGAAGTGAGCCACTAAGTATTGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 116 73 0.9982125 1 0.9991063 0.9328482 0.9564528 0.9829734 0.9315632 NA NA 0.01523913 0.06843676 0.9446505 0.9572683 NA 0.04183795 NA FALSE NA 0.005 0.667 . intron_variant MODIFIER CCDC180 HGNC 29303 ENST00000357054 21/48 1 NA TGG G,T 3.295e-05 9:97314832 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 intron_variant -0.207831 0.21152 0.08208 0.062308 0.3987906 0.109432 5.352017e-22 FALSE NA ENSE00000926455_004 ENSE00000926455 004 9 100077091 100077260 + 42 96 32 C T 100077133 1031 43 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAACTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314850 97314851 97314851 exon 1 0.01041667 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGTTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 181 32 0.964826 1 0.982413 0.9328482 0.9564528 0.9829734 0.9315632 NA NA -0.01814743 0.06843676 0.9446505 0.9572683 NA 0.02514467 NA FALSE NA 0.997 0.859 . splice_region_variant&synonymous_variant LOW CCDC180 HGNC 29303 ENST00000357054 22/49 rs372127365 1 NA T:0 T:0.0001 GCT C,T 1.647e-05 9:97314851 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 splice_region_variant 1.01785 0.96653 0.54667 0.562547 0.6363521 0 5.352017e-22 FALSE 8.12288e-06 ENSE00000926455_006 ENSE00000926455 006 9 100077091 100077260 + 42 96 32 G A 100077140 1033 50 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGTTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314857 97314858 97314858 exon 8 0.08333333 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAACGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 67 101 1 1 1 0.9328482 0.9564528 0.9829734 0.9315632 NA NA 0.01702661 0.06843676 0.9446505 0.9572683 NA 0.04273169 NA FALSE NA 0 0.117 . missense_variant MODERATE CCDC180 HGNC 29303 ENST00000357054 22/49 1 benign(0.032) NA AGC G,A 2.471e-05 9:97314858 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 missense_variant 0.028352 0.14943 0.01232 0.562547 0.5819054 0 5.352017e-22 FALSE 1.62443e-05 ENSE00000926455_008 ENSE00000926455 008 9 100077091 100077260 + 42 96 32 G A 100077142 1035 52 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACATGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314859 97314860 97314860 exon 10 0.1041667 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCATGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 73 288 0.9736393 0.9907736 0.9822065 0.9328482 0.9564528 0.9829734 0.9315632 NA NA -0.009334073 0.05921039 0.9446505 0.9572683 NA 0.02493816 NA FALSE NA 0.275 1.97 . missense_variant MODERATE CCDC180 HGNC 29303 ENST00000357054 22/49 COSM1102948&COSM1102949 1 probably_damaging(0.944) NA CGT G,A 2.471e-05 9:97314860 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 missense_variant 5.218991 0.98602 0.8029 0.562547 0.9569588 0 5.352017e-22 FALSE 2.43671e-05 ENSE00000926455_012 ENSE00000926455 012 9 100077091 100077260 + 42 96 32 G A 100077157 1039 67 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGTATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314874 97314875 97314875 exon 25 0.2604167 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATACAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 218 458 0.9990523 0.9944984 0.9967753 0.9328482 0.9564528 0.9829734 0.9315632 NA NA 0.01607888 0.06293517 0.9446505 0.9572683 NA 0.03950702 NA FALSE NA 0.002 1.453 . missense_variant MODERATE CCDC180 HGNC 29303 ENST00000357054 22/49 rs369296221 1 benign(0.054) NA A:0.0002 A:0 TGC G,A 1.647e-05 9:97314875 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 missense_variant 0.277469 0.25762 0.03529 0.562547 0.6250903 0 5.352017e-22 FALSE 2.84285e-05 ENSE00000926455_019 ENSE00000926455 019 9 100077091 100077260 + 42 96 32 C T 100077186 1046 96 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATAAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314903 97314904 97314904 exon -43 0.5625 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTTATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 292 1749 0.9711703 0.989148 0.9801591 0.9328482 0.9564528 0.9829734 0.9315632 NA NA -0.01180308 0.05758474 0.9446505 0.9572683 NA 0.02289083 NA FALSE NA 0.155 0.491 . synonymous_variant LOW CCDC180 HGNC 29303 ENST00000357054 22/49 1 NA TCA C,T 8.236e-06 9:97314904 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 synonymous_variant 1.064601 0.9463 0.43023 0.562547 0.6828591 0 5.352017e-22 FALSE 2.03052e-05 ENSE00000926455_020 ENSE00000926455 020 9 100077091 100077260 + 42 96 32 T C 100077188 1047 98 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCGTGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314905 97314906 97314906 exon -41 0.5833333 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCACGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 27 567 1 0.8694213 0.9347106 0.9328482 0.9564528 0.9829734 0.9315632 NA NA 0.01702661 -0.06214196 0.9446505 0.9572683 NA -0.02255767 NA FALSE NA 0.013 0.915 . missense_variant MODERATE CCDC180 HGNC 29303 ENST00000357054 22/49 1 benign(0.113) NA ATG T,C 8.236e-06 9:97314906 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 missense_variant 1.963454 0.966 0.55489 0.562547 0.9665767 0 5.352017e-22 FALSE 1.21828e-05 ENSE00000926455_026 ENSE00000926455 026 9 100077091 100077260 + 42 96 32 C A 100077208 1053 118 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCATCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314925 97314926 97314926 exon -21 0.7916667 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGATGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 415 57 1 0.9821843 0.9910922 0.9328482 0.9564528 0.9829734 0.9315632 NA NA 0.01702661 0.05062109 0.9446505 0.9572683 NA 0.03382385 NA FALSE NA 1 1.756 . missense_variant MODERATE CCDC180 HGNC 29303 ENST00000357054 22/49 1 probably_damaging(0.92) NA GCT C,A 8.236e-06 9:97314926 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 missense_variant 3.986745 0.97355 0.79339 0.562547 0.9771229 0 5.352017e-22 FALSE 1.21836e-05 ENSE00000926455_028 ENSE00000926455 028 9 100077091 100077260 + 42 96 32 C A 100077224 1055 134 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGTCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314941 97314942 97314942 exon -5 0.9583333 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGACATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 27 192 1 0.9971758 0.9985879 0.9328482 0.9564528 0.9829734 0.9315632 NA NA 0.01702661 0.06561261 0.9446505 0.9572683 NA 0.04131961 NA FALSE NA 1 4.219 . missense_variant MODERATE CCDC180 HGNC 29303 ENST00000357054 22/49 rs200147512 1 probably_damaging(0.997) NA GCC C,A 4.118e-05 9:97314942 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 missense_variant 7.174556 0.98657 0.92247 0.562547 0.9951119 0 5.352017e-22 FALSE 5.28047e-05 ENSE00000926455_029 ENSE00000926455 029 9 100077091 100077260 + 42 96 32 T C 100077227 1056 137 TGGGCTGATCCCTGCACAGGAAAACCACTCACCGTGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314944 97314945 97314945 exon -2 0.9895833 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCACGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 202 10 0.8360841 0.8 0.8180421 0.9328482 0.9564528 0.9829734 0.9315632 NA NA -0.1468892 -0.1315632 0.9446505 0.9572683 NA -0.1392262 NA FALSE NA 1 1.399 . missense_variant&splice_region_variant MODERATE CCDC180 HGNC 29303 ENST00000357054 22/49 1 benign(0.108) NA ATG T,C 2.471e-05 9:97314945 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 missense_variant 1.694698 0.96517 0.72197 0.562547 0.9776071 0 5.352017e-22 FALSE 1.21855e-05 ENSE00000926455_030 ENSE00000926455 030 9 100077091 100077260 + 42 96 32 G A 100077244 1057 154 TGGGCTGATCCCTGCATAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314961 97314962 97314962 downstr_intron 16 1.516129 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTATGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 457 67 1 1 1 0.9328482 0.9564528 0.9829734 0.9315632 NA NA 0.01702661 0.06843676 0.9446505 0.9572683 NA 0.04273169 NA FALSE NA 0 -0.474 . intron_variant MODIFIER CCDC180 HGNC 29303 ENST00000357054 22/48 1 NA TGT G,A 8.236e-06 9:97314962 CCDC180 HGNC Symbol protein_coding 71220 ENSG00000197816 ENSE00003642689 intron_variant 0.554376 0.17475 0.01689 0.062308 0.6198969 0.10743 5.352017e-22 FALSE 8.13068e-06 ENSE00000945204_001 ENSE00000945204 001 16 71603719 71603888 - 38 84 48 C T 71603731 2731 158 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAAGTCAATGCATGT 71569815 71569985 71569827 71569828 71569828 downstr_intron 26 1.702703 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAAGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 71 41 1 0.9922113 0.9961056 NA NA 0.997987 0.9933727 NA NA 0.002012999 -0.001161364 NA 0.9956798 NA 0.0004258173 NA FALSE NA 0.017 0.238 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 rs367876834 1 NA T:0.0007 T:0 CCT C,T 3.295e-05 16:71569828 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 intron_variant 0.125585 0.17001 0.01291 0.053691 0.7887627 0.0959723 NA NA 2.07772e-05 ENSE00000945204_003 ENSE00000945204 003 16 71603719 71603888 - 38 84 48 T C 71603753 2733 136 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGGGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569849 71569850 71569850 downstr_intron 4 1.108108 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGGGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 85 258 0 0 0 NA NA 0.997987 0.9933727 NA NA -0.997987 -0.9933727 NA 0.9956798 NA -0.9956798 NA TRUE NA 1 4.068 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA CTC T,C 4.118e-05 16:71569850 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 splice_region_variant 2.069768 0.99421 0.96929 0.053691 0.9705604 0.971099 NA NA 5.31589e-05 ENSE00000945204_004 ENSE00000945204 004 16 71603719 71603888 - 38 84 48 T G 71603759 2734 130 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCCTGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569855 71569856 71569856 exon -3 0.9761905 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCCTGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 1958 809 0.9968347 0.9982402 0.9975374 NA NA 0.997987 0.9933727 NA NA -0.001152339 0.004867577 NA 0.9956798 NA 0.001857619 NA FALSE NA 1 7.786 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA ATG T,G 8.237e-06 16:71569856 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 missense_variant 6.211168 0.99441 0.98846 0.487112 0.9843198 0 NA NA 4.08177e-06 ENSE00000945204_006 ENSE00000945204 006 16 71603719 71603888 - 38 84 48 G A 71603783 2736 106 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCTGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569879 71569880 71569880 exon -27 0.6904762 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCTGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 319 89 0.9968621 1 0.998431 NA NA 0.997987 0.9933727 NA NA -0.001124942 0.006627341 NA 0.9956798 NA 0.0027512 NA FALSE NA 1 3.462 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA CGG G,A 1.647e-05 16:71569880 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 missense_variant 4.087209 0.9834 0.89743 0.487112 0.983116 0 NA NA 3.26171e-05 ENSE00000945204_008 ENSE00000945204 008 16 71603719 71603888 - 38 84 48 C T 71603791 2738 98 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCAGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569887 71569888 71569888 exon -35 0.5952381 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCAGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 382 276 1 0.9725156 0.9862578 NA NA 0.997987 0.9933727 NA NA 0.002012999 -0.02085708 NA 0.9956798 NA -0.009422042 NA FALSE NA 0.017 -0.794 rs150886066 intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 rs150886066&COSM1737738 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0 CCG C,T 5.766e-05 16:71569888 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 missense_variant 2.52925 0.97082 0.07241 0.487112 0.8220502 0 NA NA 6.11202e-05 ENSE00000945204_009 ENSE00000945204 009 16 71603719 71603888 - 38 84 48 G A 71603792 2739 97 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCTGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569888 71569889 71569889 exon -36 0.5833333 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCTGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 390 433 0.8274046 0.9317741 0.8795893 NA NA 0.997987 0.9933727 NA NA -0.1705824 -0.06159856 NA 0.9956798 NA -0.1160905 NA FALSE NA 1 4.85 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 rs371975183&COSM3764568 1 NA A:0 A:0.0002 CGG G,A 3.295e-05 16:71569889 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 missense_variant 6.878156 0.98645 0.93072 0.487112 0.9988726 0 NA NA 2.44588e-05 ENSE00000945204_011 ENSE00000945204 011 16 71603719 71603888 - 38 84 48 A G 71603808 2741 81 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCCGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569904 71569905 71569905 exon 33 0.3928571 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCCGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 453 1282 0.8297988 0.8670293 0.8484141 NA NA 0.997987 0.9933727 NA NA -0.1681882 -0.1263433 NA 0.9956798 NA -0.1472658 NA FALSE NA 1 1.508 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA CAG A,G 8.237e-06 16:71569905 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 synonymous_variant 0.70371 0.97414 0.72598 0.487112 0.6402542 0 NA NA NA ENSE00000945204_014 ENSE00000945204 014 16 71603719 71603888 - 38 84 48 G A 71603815 2744 74 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGTGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569911 71569912 71569912 exon 26 0.3095238 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGTGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 23 413 1 1 1 NA NA 0.997987 0.9933727 NA NA 0.002012999 0.006627341 NA 0.9956798 NA 0.00432017 NA FALSE NA 1 5.941 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA CGC G,A 1.647e-05 16:71569912 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 missense_variant 2.496206 0.918 0.92435 0.487112 0.98834 0 NA NA 1.63303e-05 ENSE00000945204_016 ENSE00000945204 016 16 71603719 71603888 - 38 84 48 T C 71603836 2746 53 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAGTGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569932 71569933 71569933 exon 5 0.05952381 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAGTGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 207 694 1 0.999772 0.999886 NA NA 0.997987 0.9933727 NA NA 0.002012999 0.006399388 NA 0.9956798 NA 0.004206193 NA FALSE NA 1 3.377 rs138304751 intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 rs138304751 1 C:0.0004 C:0 C:0 NA C:0.001 C:0 C:0.001 C:0.0002 C:0.0005 ATT T,C 0.0003212 16:71569933 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 missense_variant -0.337795 0.98121 0.93421 0.487112 0.9427638 0 NA NA 0.000360597 ENSE00000945204_019 ENSE00000945204 019 16 71603719 71603888 - 38 84 48 C T 71603844 2749 45 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTATAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569940 71569941 71569941 upstr_intron -4 -0.0625 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTATAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 153 844 1 1 1 NA NA 0.997987 0.9933727 NA NA 0.002012999 0.006627341 NA 0.9956798 NA 0.00432017 NA FALSE NA 0.001 -1.515 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA ACA C,T 8.237e-06 16:71569941 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 splice_region_variant 0.005292 0.21188 0.03676 0.053691 0.6564859 0.216593 NA NA NA ENSE00000945204_020 ENSE00000945204 020 16 71603719 71603888 - 38 84 48 A G 71603846 2750 43 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCCTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569942 71569943 71569943 upstr_intron -6 -0.1041667 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCCTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 138 347 0.9981969 0.9998903 0.9990436 NA NA 0.997987 0.9933727 NA NA 0.0002098556 0.006517592 NA 0.9956798 NA 0.003363724 NA FALSE NA 0.993 2.971 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA AAG A,G 8.237e-06 16:71569943 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 splice_region_variant 0.175091 0.36655 0.58534 0.053691 0.5745721 0.716893 NA NA 4.13822e-06 ENSE00000945204_022 ENSE00000945204 022 16 71603719 71603888 - 38 84 48 G A 71603852 2752 37 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCTTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569948 71569949 71569949 upstr_intron -12 -0.2291667 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCTTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 823 69 0.9296573 1 0.9648287 NA NA 0.997987 0.9933727 NA NA -0.06832966 0.006627341 NA 0.9956798 NA -0.03085116 NA FALSE NA 0.995 1.887 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA AGG G,A 1.648e-05 16:71569949 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 intron_variant 0.976436 0.85127 0.45757 0.053691 0.5951384 0.640786 NA NA 2.08814e-05 ENSE00000945204_024 ENSE00000945204 024 16 71603719 71603888 - 38 84 48 A G 71603863 2754 26 CTTTTACTTAAATTTTGATCCTTGACTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569959 71569960 71569960 upstr_intron -23 -0.4583333 CTTTTACTTAAATTTTGATCCTTGACTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 42 310 1 0.9898121 0.9949061 NA NA 0.997987 0.9933727 NA NA 0.002012999 -0.003560513 NA 0.9956798 NA -0.0007737574 NA FALSE NA 0 0.546 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA AAT A,G 8.241e-06 16:71569960 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 intron_variant 0.675918 0.23817 0.07065 0.053691 0.67314 0.0958952 NA NA 8.84377e-06 ENSE00000945204_025 ENSE00000945204 025 16 71603719 71603888 - 38 84 48 C G 71603865 2755 24 CTTTTACTTAAATTTTGATCCTTCATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569961 71569962 71569962 upstr_intron -25 -0.5 CTTTTACTTAAATTTTGATCCTTCATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 124 1082 0.9543921 0.9961083 0.9752502 NA NA 0.997987 0.9933727 NA NA -0.0435949 0.002735659 NA 0.9956798 NA -0.02042962 NA FALSE NA 0.698 0.331 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 rs368270511 1 NA G:0 G:0.0001 TCA C,G 8.241e-06 16:71569962 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 intron_variant 0.794937 0.40806 0.41483 0.053691 0.6558635 0.0958952 NA NA 8.86423e-06 ENSE00000945204_026 ENSE00000945204 026 16 71603719 71603888 - 38 84 48 A G 71603876 2756 13 CTTTTACTTAAACTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569972 71569973 71569973 upstr_intron -36 -0.7291667 CTTTTACTTAAACTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 64 191 0.9455409 0.9761799 0.9608604 NA NA 0.997987 0.9933727 NA NA -0.05244615 -0.01719273 NA 0.9956798 NA -0.03481944 NA FALSE NA 0 0.157 . intron_variant&non_coding_transcript_variant MODIFIER RP11-432I5.1 Clone_based_vega_gene NA ENST00000561529 2/3 1 NA AAT A,G 8.258e-06 16:71569973 TAT-AS1 HGNC Symbol antisense 12398 ENSG00000260886 ENSE00000945204 intron_variant 0.609799 0.21467 0.0484 0.053691 0.6538533 0.0958952 NA NA NA ENSE00000947490_002 ENSE00000947490 002 17 45367506 45367675 + 45 90 35 C G 45367523 2292 18 CAGCTTCCTTTGGTAAGGTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290156 47290157 47290157 upstr_intron -28 -0.6 CAGCTTCCTTTGGTAAGGTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 55 171 1 0.9953472 0.9976736 0.996107 0.9587687 0.9987237 1 NA NA 0.001276345 -0.004652782 0.9774378 0.9993618 NA -0.001688218 NA FALSE NA 0 -0.657 . intron_variant MODIFIER ITGB3 HGNC 6156 ENST00000435993 7/17 1 NA GCT C,G 8.236e-06 17:47290157 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 intron_variant 1.039329 0.19391 0.05281 0.106106 0.7521799 0.151247 0.1416995 FALSE 1.21858e-05 ENSE00000947490_005 ENSE00000947490 005 17 45367506 45367675 + 45 90 35 C T 45367543 2295 38 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCTTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290176 47290177 47290177 upstr_intron -8 -0.1555556 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCTTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 2088 77 0.9998027 1 0.9999014 0.996107 0.9587687 0.9987237 1 NA NA 0.001079084 0 0.9774378 0.9993618 NA 0.0005395419 NA FALSE NA 0.846 0.589 . splice_region_variant&intron_variant LOW ITGB3 HGNC 6156 ENST00000435993 7/17 1 NA CCT C,T 8.236e-06 17:47290177 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 splice_region_variant 1.659171 0.96357 0.39501 0.106106 0.7585827 0.503457 0.1416995 FALSE 4.06101e-06 ENSE00000947490_009 ENSE00000947490 009 17 45367506 45367675 + 45 90 35 T C 45367583 2299 78 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTCGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290216 47290217 47290217 exon 33 0.3666667 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTCGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 17 294 1 0.9940933 0.9970466 0.996107 0.9587687 0.9987237 1 NA NA 0.001276345 -0.005906711 0.9774378 0.9993618 NA -0.002315183 NA FALSE NA 0.967 0.029 . synonymous_variant LOW ITGB3 HGNC 6156 ENST00000435993 8/18 1 NA TTG T,C 8.236e-06 17:47290217 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 synonymous_variant -0.485422 0.96144 0.76031 0.706548 0.6827757 0 0.1416995 FALSE 4.06055e-06 ENSE00000947490_010 ENSE00000947490 010 17 45367506 45367675 + 45 90 35 C A 45367595 2300 90 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCAATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290228 47290229 47290229 exon 45 0.5 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCAATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 87 371 0.9767779 0.9966484 0.9867132 0.996107 0.9587687 0.9987237 1 NA NA -0.02194576 -0.003351567 0.9774378 0.9993618 NA -0.01264867 NA FALSE NA 0 -0.48 rs139342659 synonymous_variant LOW ITGB3 HGNC 6156 ENST00000435993 8/18 rs373615025&COSM3518496&COSM3518498&COSM3518497 1 NA CCA C,A 1.647e-05 17:47290229 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 synonymous_variant 1.619512 0.26828 0.09197 0.706548 0.6158956 0 0.1416995 FALSE 1.21819e-05 ENSE00000947490_011 ENSE00000947490 011 17 45367506 45367675 + 45 90 35 G A 45367599 2301 94 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGAATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290232 47290233 47290233 exon -42 0.5444444 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGAATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 68 175 0.95 0.9296226 0.9398113 0.996107 0.9587687 0.9987237 1 NA NA -0.04872365 -0.07037737 0.9774378 0.9993618 NA -0.05955051 NA FALSE NA 0.998 2.503 rs150029332 missense_variant MODERATE ITGB3 HGNC 6156 ENST00000435993 8/18 rs150029332 1 benign(0.103) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 GGA G,A 4.942e-05 17:47290233 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 missense_variant 1.95544 0.97298 0.934 0.706548 0.989045 0 0.1416995 FALSE 3.65458e-05 ENSE00000947490_012 ENSE00000947490 012 17 45367506 45367675 + 45 90 35 C T 45367604 2302 99 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCTAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290237 47290238 47290238 exon -37 0.6 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCTAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 427 36 1 1 1 0.996107 0.9587687 0.9987237 1 NA NA 0.001276345 0 0.9774378 0.9993618 NA 0.0006381726 NA FALSE NA 0.528 -0.192 . synonymous_variant LOW ITGB3 HGNC 6156 ENST00000435993 8/18 1 NA CCA C,T 1.647e-05 17:47290238 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 synonymous_variant 1.472017 0.9617 0.49007 0.706548 0.6633319 0 0.1416995 FALSE 1.21819e-05 ENSE00000947490_013 ENSE00000947490 013 17 45367506 45367675 + 45 90 35 C T 45367622 2303 117 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTTATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290255 47290256 47290256 exon -19 0.8 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTTATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 36 52 1 1 1 0.996107 0.9587687 0.9987237 1 NA NA 0.001276345 0 0.9774378 0.9993618 NA 0.0006381726 NA FALSE NA 1 1.424 . synonymous_variant LOW ITGB3 HGNC 6156 ENST00000435993 8/18 1 NA TCA C,T 8.236e-06 17:47290256 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 synonymous_variant 1.49712 0.97299 0.87017 0.706548 0.7371042 0 0.1416995 FALSE 4.06065e-06 ENSE00000947490_014 ENSE00000947490 014 17 45367506 45367675 + 45 90 35 T C 45367624 2304 119 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCACTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290257 47290258 47290258 exon -17 0.8222222 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCACTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 129 75 1 1 1 0.996107 0.9587687 0.9987237 1 NA NA 0.001276345 0 0.9774378 0.9993618 NA 0.0006381726 NA FALSE NA 1 8.042 . missense_variant MODERATE ITGB3 HGNC 6156 ENST00000435993 8/18 rs371006520 1 probably_damaging(0.969) NA C:0 C:0.0001 ATT T,C 8.236e-06 17:47290258 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 missense_variant 6.001009 0.99185 0.98861 0.706548 0.9980787 0 0.1416995 FALSE 8.12137e-06 ENSE00000947490_015 ENSE00000947490 015 17 45367506 45367675 + 45 90 35 T C 45367637 2305 132 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTACGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290270 47290271 47290271 exon -4 0.9666667 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTACGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 19 65 1 1 1 0.996107 0.9587687 0.9987237 1 NA NA 0.001276345 0 0.9774378 0.9993618 NA 0.0006381726 NA FALSE NA 0.488 -0.24 . synonymous_variant LOW ITGB3 HGNC 6156 ENST00000435993 8/18 1 NA ATG T,C 8.236e-06 17:47290271 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 synonymous_variant -0.090078 0.96301 0.42206 0.706548 0.4542701 0 0.1416995 FALSE 4.06072e-06 ENSE00000947490_016 ENSE00000947490 016 17 45367506 45367675 + 45 90 35 T G 45367651 2306 146 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTGGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290284 47290285 47290285 downstr_intron 11 1.323529 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTGGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant NA NA NA NA NA 187 313 1 0.9970275 0.9985137 0.996107 0.9587687 0.9987237 1 NA NA 0.001276345 -0.002972526 0.9774378 0.9993618 NA -0.0008480902 NA FALSE NA 0.007 1.231 . intron_variant MODIFIER ITGB3 HGNC 6156 ENST00000435993 8/17 rs200541315 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 TTG T,G 8.236e-06 17:47290285 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 intron_variant 0.746527 0.23334 0.11858 0.062308 0.553174 0.0682314 0.1416995 FALSE 4.06075e-06 ENSE00000951617_001 ENSE00000951617 001 19 16591392 16591561 - 33 93 44 C T 16591411 1501 151 TGATGTAGGAAGAGTTAATTACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480599 16480600 16480600 downstr_intron 14 1.4375 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTAATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 469 31 1 1 1 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04596283 0.005497234 0.9725717 0.97427 NA 0.02573003 NA FALSE NA 0 0.093 . intron_variant MODIFIER CALR3 HGNC 20407 ENST00000269881 8/8 1 NA TCA C,T 8.236e-06 19:16480600 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 intron_variant -0.329857 0.12196 0.00223 0.053691 0.530196 0.0424412 8.793443e-08 FALSE 4.0623e-06 ENSE00000951617_002 ENSE00000951617 002 19 16591392 16591561 - 33 93 44 C T 16591413 1502 149 TGATGTAGGAAGAGTTAATCATGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480601 16480602 16480602 downstr_intron 12 1.375 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACATGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 447 788 0.9915204 0.9779152 0.9847178 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.03748321 -0.01658752 0.9725717 0.97427 NA 0.01044785 NA FALSE NA 0 -0.202 . intron_variant MODIFIER CALR3 HGNC 20407 ENST00000269881 8/8 1 NA ACG C,T 1.647e-05 19:16480602 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 intron_variant -0.158043 0.09436 0.00813 0.053691 0.4407881 0.0424412 8.793443e-08 FALSE 8.1246e-06 ENSE00000951617_003 ENSE00000951617 003 19 16591392 16591561 - 33 93 44 G A 16591414 1503 148 TGATGTAGGAAGAGTTAATCACATGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480602 16480603 16480603 downstr_intron 11 1.34375 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCATGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 151 161 0.9795591 1 0.9897796 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.02552196 0.005497234 0.9725717 0.97427 NA 0.0155096 NA FALSE NA 0.003 -0.026 . intron_variant MODIFIER CALR3 HGNC 20407 ENST00000269881 8/8 1 NA CGT G,A 4.118e-05 19:16480603 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 intron_variant -0.254699 0.12896 0.00801 0.053691 0.5008627 0.0424412 8.793443e-08 FALSE 5.28039e-05 ENSE00000951617_004 ENSE00000951617 004 19 16591392 16591561 - 33 93 44 T C 16591418 1504 144 TGATGTAGGAAGAGTTAATCACGTGCCTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480606 16480607 16480607 downstr_intron 7 1.21875 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAGGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 120 679 1 0.9972635 0.9986317 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04596283 0.002760718 0.9725717 0.97427 NA 0.02436178 NA FALSE NA 0.001 -0.279 . splice_region_variant&intron_variant LOW CALR3 HGNC 20407 ENST00000269881 8/8 1 NA CTT T,C 8.236e-06 19:16480607 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 splice_region_variant -0.500887 0.19188 0.00255 0.053691 0.4434512 0.0493881 8.793443e-08 FALSE 4.06151e-06 ENSE00000951617_005 ENSE00000951617 005 19 16591392 16591561 - 33 93 44 C T 16591425 1505 137 TGATGTAGGAAGAGTTAATCACGTGCTTCATACTTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480613 16480614 16480614 exon -1 1 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAAGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 405 238 0.8603739 0.8426421 0.851508 0.9567373 0.9884061 0.9540372 0.9945028 NA NA -0.09366328 -0.1518607 0.9725717 0.97427 NA -0.122762 NA FALSE NA 1 7.213 . splice_region_variant&synonymous_variant LOW CALR3 HGNC 20407 ENST00000269881 8/9 1 NA CCT C,T 8.236e-06 19:16480614 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 splice_region_variant 2.471185 0.99531 0.98839 0.487112 0.9213259 0 8.793443e-08 FALSE 4.06154e-06 ENSE00000951617_006 ENSE00000951617 006 19 16591392 16591561 - 33 93 44 G T 16591429 1506 133 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGTTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480617 16480618 16480618 exon -5 0.9569892 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAAACAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 799 84 0.9755295 1 0.9877647 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.0214923 0.005497234 0.9725717 0.97427 NA 0.01349477 NA FALSE NA 1 9.08 . missense_variant MODERATE CALR3 HGNC 20407 ENST00000269881 8/9 1 tolerated(0.19) benign(0.005) NA GGT G,T 1.647e-05 19:16480618 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 missense_variant 2.606824 0.99562 0.99327 0.553676 0.9770726 0 8.793443e-08 FALSE 8.12262e-06 ENSE00000951617_007 ENSE00000951617 007 19 16591392 16591561 - 33 93 44 C T 16591433 1507 129 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTTGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480621 16480622 16480622 exon -9 0.9139785 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCAAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 315 2698 0.9965769 0.9322397 0.9644083 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04253977 -0.06226302 0.9725717 0.97427 NA -0.009861627 NA FALSE NA 0.067 2.889 . missense_variant MODERATE CALR3 HGNC 20407 ENST00000269881 8/9 rs199535524 1 tolerated(0.95) benign(0.002) NA T:0.0002 T:0.0001 TCG C,T 8.236e-06 19:16480622 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 missense_variant 1.425482 0.33047 0.25822 0.553676 0.629129 0 8.793443e-08 FALSE 4.06124e-06 ENSE00000951617_011 ENSE00000951617 011 19 16591392 16591561 - 33 93 44 G C 16591449 1511 113 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTCCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480637 16480638 16480638 exon -25 0.7419355 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGGAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 1390 2481 0.9970626 0.9993487 0.9982057 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04302541 0.004845968 0.9725717 0.97427 NA 0.02393569 NA FALSE NA 0.046 -0.299 . synonymous_variant LOW CALR3 HGNC 20407 ENST00000269881 8/9 1 NA TGC G,C 1.647e-05 19:16480638 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 synonymous_variant 0.308209 0.97177 0.3329 0.553676 0.6947095 0 8.793443e-08 FALSE 1.62455e-05 ENSE00000951617_012 ENSE00000951617 012 19 16591392 16591561 - 33 93 44 T C 16591459 1512 103 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTACCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480647 16480648 16480648 exon -35 0.6344086 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGGTAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 771 166 0.9840283 0.9500212 0.9670247 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.02999114 -0.0444816 0.9725717 0.97427 NA -0.00724523 NA FALSE NA 1 5.668 . missense_variant MODERATE CALR3 HGNC 20407 ENST00000269881 8/9 1 deleterious(0.01) benign(0.005) NA ATC T,C 8.236e-06 19:16480648 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 missense_variant 2.658924 0.98489 0.97161 0.553676 0.9871376 0 8.793443e-08 FALSE 4.06111e-06 ENSE00000951617_015 ENSE00000951617 015 19 16591392 16591561 - 33 93 44 C G 16591467 1515 95 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTAGTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480655 16480656 16480656 exon -43 0.5483871 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGACTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 2169 42 0.9967292 1 0.9983646 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.042692 0.005497234 0.9725717 0.97427 NA 0.02409462 NA FALSE NA 0.004 -0.605 . missense_variant MODERATE CALR3 HGNC 20407 ENST00000269881 8/9 1 tolerated(0.19) benign(0.021) NA ACT C,G 1.647e-05 19:16480656 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 missense_variant 0.650209 0.97016 0.27853 0.553676 0.9797768 0 8.793443e-08 FALSE 8.12249e-06 ENSE00000951617_016 ENSE00000951617 016 19 16591392 16591561 - 33 93 44 T C 16591470 1516 92 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCCTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480658 16480659 16480659 exon -46 0.516129 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAGGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 109 282 0.9811997 0.9954185 0.9883091 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.02716254 0.0009157323 0.9725717 0.97427 NA 0.01403914 NA FALSE NA 0.513 0.478 . synonymous_variant LOW CALR3 HGNC 20407 ENST00000269881 8/9 1 NA CTT T,C 4.118e-05 19:16480659 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 synonymous_variant -1.426085 0.97534 0.47827 0.553676 0.4008386 0 8.793443e-08 FALSE 3.24894e-05 ENSE00000951617_017 ENSE00000951617 017 19 16591392 16591561 - 33 93 44 C T 16591475 1517 87 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATTATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480663 16480664 16480664 exon 43 0.4623656 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATAATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 783 331 0.9973923 1 0.9986961 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.0433551 0.005497234 0.9725717 0.97427 NA 0.02442617 NA FALSE NA 1 4.431 rs143334090 missense_variant MODERATE CALR3 HGNC 20407 ENST00000269881 8/9 rs143334090&COSM3530023 1 deleterious(0.04) benign(0.046) NA T:0.0002 T:0 TCA C,T 8.236e-06 19:16480664 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 missense_variant 2.839624 0.98765 0.95558 0.553676 0.9961533 0 8.793443e-08 FALSE 4.06141e-06 ENSE00000951617_018 ENSE00000951617 018 19 16591392 16591561 - 33 93 44 C A 16591496 1518 66 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATAAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480684 16480685 16480685 exon 22 0.2365591 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTTATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 925 49 0.9204078 1 0.9602039 0.9567373 0.9884061 0.9540372 0.9945028 NA NA -0.03362936 0.005497234 0.9725717 0.97427 NA -0.01406606 NA FALSE NA 1 7.123 . missense_variant MODERATE CALR3 HGNC 20407 ENST00000269881 8/9 1 deleterious(0) possibly_damaging(0.583) NA TCA C,A 8.236e-06 19:16480685 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 missense_variant 5.352217 0.99561 0.99534 0.553676 0.9905025 0 8.793443e-08 FALSE NA ENSE00000951617_019 ENSE00000951617 019 19 16591392 16591561 - 33 93 44 C A 16591513 1519 49 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATATCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480701 16480702 16480702 exon 5 0.05376344 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGATATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 83 66 1 1 1 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04596283 0.005497234 0.9725717 0.97427 NA 0.02573003 NA FALSE NA 1 2.665 . missense_variant MODERATE CALR3 HGNC 20407 ENST00000269881 8/9 rs369518093 1 deleterious(0.02) benign(0.02) NA A:0 A:0.0001 TCT C,A 3.295e-05 19:16480702 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 missense_variant 4.922943 0.99006 0.97177 0.487112 0.973722 0 8.793443e-08 FALSE 3.25529e-05 ENSE00000951617_021 ENSE00000951617 021 19 16591392 16591561 - 33 93 44 A T 16591524 1521 38 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGTTGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480712 16480713 16480713 upstr_intron -7 -0.1363636 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCAACTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 266 1037 1 0.9989929 0.9994964 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04596283 0.004490126 0.9725717 0.97427 NA 0.02522648 NA FALSE NA 0.608 1.711 . splice_region_variant&intron_variant LOW CALR3 HGNC 20407 ENST00000269881 7/8 rs571906275 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 GAT A,T 8.237e-06 19:16480713 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 splice_region_variant 0.527608 0.25006 0.26893 0.053691 0.6670047 0.243884 8.793443e-08 FALSE 4.0853e-06 ENSE00000951617_022 ENSE00000951617 022 19 16591392 16591561 - 33 93 44 T C 16591539 1522 23 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTCCATTATTATGCTTTTATTCTTT 16480580 16480750 16480727 16480728 16480728 upstr_intron -22 -0.4772727 AAAGAATAAAAGCATAATAATGGAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 543 374 0.9844456 0.9783908 0.9814182 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.0304084 -0.01611195 0.9725717 0.97427 NA 0.007148226 NA FALSE NA 0.028 0.617 . intron_variant MODIFIER CALR3 HGNC 20407 ENST00000269881 7/8 1 NA TTC T,C 8.24e-06 19:16480728 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 intron_variant 0.226791 0.15876 0.02639 0.053691 0.8454396 0.117919 8.793443e-08 FALSE 4.17728e-06 ENSE00000951617_023 ENSE00000951617 023 19 16591392 16591561 - 33 93 44 T C 16591548 1523 14 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTACGCTTTTATTCTTT 16480580 16480750 16480736 16480737 16480737 upstr_intron -31 -0.6818182 AAAGAATAAAAGCGTAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 147 434 1 1 1 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04596283 0.005497234 0.9725717 0.97427 NA 0.02573003 NA FALSE NA 0 2.888 . intron_variant MODIFIER CALR3 HGNC 20407 ENST00000269881 7/8 rs373096135 1 NA C:0 C:0.0001 ATG T,C 0.000132 19:16480737 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 intron_variant -0.015262 0.29073 0.50867 0.053691 0.8509162 0.108177 8.793443e-08 FALSE 0.000170228 ENSE00000951617_024 ENSE00000951617 024 19 16591392 16591561 - 33 93 44 C T 16591550 1524 12 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGTTTTTATTCTTT 16480580 16480750 16480738 16480739 16480739 upstr_intron -33 -0.7272727 AAAGAATAAAAACATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 231 649 0.9915057 1 0.9957528 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.03746853 0.005497234 0.9725717 0.97427 NA 0.02148288 NA FALSE NA 0 -1.337 . intron_variant MODIFIER CALR3 HGNC 20407 ENST00000269881 7/8 1 NA GCT C,T 8.263e-06 19:16480739 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 intron_variant -0.073759 0.1912 0.0188 0.053691 0.4689366 0.108177 8.793443e-08 FALSE 4.51973e-06 ENSE00000957489_001 ENSE00000957489 001 1 47030681 47030850 - 32 96 42 G A 47030692 1797 159 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGTTCCTAAGTATT 46565008 46565178 46565019 46565020 46565020 downstr_intron 21 1.677419 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGTTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 152 751 1 0.9959369 0.9979685 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02379374 0.02193058 0.996766 0.9751063 NA 0.02286216 NA FALSE NA 0 0.588 . intron_variant MODIFIER MKNK1 HGNC 7110 ENST00000371945 9/12 1 NA AGC G,A 8.236e-06 1:46565020 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 intron_variant 1.703541 0.26354 0.06494 0.156188 0.7364742 0.0725607 0.000222399 FALSE 4.06736e-06 ENSE00000957489_002 ENSE00000957489 002 1 47030681 47030850 - 32 96 42 C G 47030693 1798 158 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGCCTCCTAAGTATT 46565008 46565178 46565020 46565021 46565021 downstr_intron 20 1.645161 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGCCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 535 1118 0.9927603 0.9929199 0.9928401 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.01655401 0.01891352 0.996766 0.9751063 NA 0.01773377 NA FALSE NA 0 0.04 . intron_variant MODIFIER MKNK1 HGNC 7110 ENST00000371945 9/12 1 NA GCC C,G 1.647e-05 1:46565021 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 intron_variant 1.419986 0.24717 0.09578 0.156188 0.7577969 0.0725607 0.000222399 FALSE 8.13471e-06 ENSE00000957489_003 ENSE00000957489 003 1 47030681 47030850 - 32 96 42 A G 47030705 1799 146 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTACGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565032 46565033 46565033 downstr_intron 8 1.258065 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTACGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 162 1397 0.9992354 0.994351 0.9967932 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02302914 0.02034463 0.996766 0.9751063 NA 0.02168689 NA FALSE NA 0.311 2.533 . splice_region_variant&intron_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/12 rs367852091 1 NA G:0.0002 G:0 CAT A,G 8.236e-06 1:46565033 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 splice_region_variant 0.189908 0.41315 0.16951 0.156188 0.6545366 0.172559 0.000222399 FALSE NA ENSE00000957489_004 ENSE00000957489 004 1 47030681 47030850 - 32 96 42 C T 47030708 1800 143 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACATATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565035 46565036 46565036 downstr_intron 5 1.16129 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACATATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 74 167 0.9994425 1 0.9997213 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02323629 0.02599367 0.996766 0.9751063 NA 0.02461498 NA FALSE NA 0.465 4.588 . splice_region_variant&intron_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/12 1 NA ACG C,T 2.471e-05 1:46565036 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 splice_region_variant 1.61713 0.96671 0.93858 0.295142 0.8641226 0.970238 0.000222399 FALSE 1.62555e-05 ENSE00000957489_005 ENSE00000957489 005 1 47030681 47030850 - 32 96 42 G A 47030709 1801 142 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTATGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565036 46565037 46565037 downstr_intron 4 1.129032 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTATGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 289 798 0.9950974 0.8564525 0.925775 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.01889114 -0.1175538 0.996766 0.9751063 NA -0.04933134 NA FALSE NA 0.016 -1.334 rs180710838 splice_region_variant&intron_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/12 rs180710838 1 A:0.0008 A:0 A:0 NA A:0.001 A:0.003 A:0 A:0 A:0.0001 CGT G,A 0.0002059 1:46565037 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 splice_region_variant 0.736174 0.8047 0.03993 0.295142 0.5924465 0.246397 0.000222399 FALSE 0.000239629 ENSE00000957489_007 ENSE00000957489 007 1 47030681 47030850 - 32 96 42 G T 47030720 1803 131 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGAACACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565047 46565048 46565048 exon -8 0.9270833 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGAACACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 644 918 1 0.9985726 0.9992863 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02379374 0.02456624 0.996766 0.9751063 NA 0.02417999 NA FALSE NA 1 6.769 . missense_variant MODERATE MKNK1 HGNC 7110 ENST00000371945 9/13 1 tolerated(0.11) benign(0.138) NA GGT G,T 8.236e-06 1:46565048 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 missense_variant 2.508252 0.99257 0.99244 0.706298 0.9913532 0 0.000222399 FALSE 4.06088e-06 ENSE00000957489_010 ENSE00000957489 010 1 47030681 47030850 - 32 96 42 T C 47030731 1806 120 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACGCCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565058 46565059 46565059 exon -19 0.8125 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACGCCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 624 238 0.9970918 0.9988728 0.9979823 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02088559 0.02486643 0.996766 0.9751063 NA 0.02287601 NA FALSE NA 0.345 -0.296 . synonymous_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/13 1 NA GTG T,C 8.236e-06 1:46565059 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 synonymous_variant 0.28408 0.96794 0.52542 0.706298 0.7057006 0 0.000222399 FALSE 4.06075e-06 ENSE00000957489_011 ENSE00000957489 011 1 47030681 47030850 - 32 96 42 G C 47030740 1807 111 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCGATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565067 46565068 46565068 exon -28 0.71875 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCGATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 560 680 0.9742081 0.9966352 0.9854216 0.9979143 0.9956177 0.9762063 0.9740063 NA NA -0.001998203 0.0226289 0.996766 0.9751063 NA 0.01031535 NA FALSE NA 0.994 0.201 . synonymous_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/13 1 NA TGG G,C 8.236e-06 1:46565068 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 synonymous_variant 0.601746 0.97637 0.93304 0.706298 0.6917068 0 0.000222399 FALSE 8.12117e-06 ENSE00000957489_012 ENSE00000957489 012 1 47030681 47030850 - 32 96 42 G A 47030741 1808 110 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCTCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565068 46565069 46565069 exon -29 0.7083333 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCTCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 977 682 0.9999157 0.9999442 0.99993 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02370947 0.02593785 0.996766 0.9751063 NA 0.02482366 NA FALSE NA 1 9.803 . missense_variant MODERATE MKNK1 HGNC 7110 ENST00000371945 9/13 1 deleterious(0) possibly_damaging(0.743) NA GGG G,A 8.236e-06 1:46565069 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 missense_variant 6.552687 0.99547 0.99701 0.706298 0.9988509 0 0.000222399 FALSE 4.06058e-06 ENSE00000957489_013 ENSE00000957489 013 1 47030681 47030850 - 32 96 42 G A 47030743 1809 108 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACTCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565070 46565071 46565071 exon -31 0.6875 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACTCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 1000 1022 0.9974594 0.9929375 0.9951985 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.0212531 0.01893122 0.996766 0.9751063 NA 0.02009216 NA FALSE NA 0.028 -0.564 . synonymous_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/13 1 NA GGG G,A 8.236e-06 1:46565071 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 synonymous_variant 0.813443 0.9683 0.26309 0.706298 0.516019 0 0.000222399 FALSE 4.06058e-06 ENSE00000957489_014 ENSE00000957489 014 1 47030681 47030850 - 32 96 42 G C 47030744 1810 107 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTAGCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565071 46565072 46565072 exon -32 0.6770833 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTAGCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 1182 115 0.9222666 1 0.9611333 0.9979143 0.9956177 0.9762063 0.9740063 NA NA -0.05393969 0.02599367 0.996766 0.9751063 NA -0.01397301 NA FALSE NA 1 6.624 . missense_variant MODERATE MKNK1 HGNC 7110 ENST00000371945 9/13 1 tolerated(1) benign(0.013) NA GGT G,C 8.236e-06 1:46565072 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 missense_variant 0.663167 0.99021 0.99223 0.706298 0.3322385 0 0.000222399 FALSE 8.12117e-06 ENSE00000957489_015 ENSE00000957489 015 1 47030681 47030850 - 32 96 42 C T 47030747 1811 104 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTATACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565074 46565075 46565075 exon -35 0.6458333 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTATACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant 17 13 0.9978269 1 0.9989134 707 569 0.9879383 0.9867139 0.9873261 0.9979143 0.9956177 0.9762063 0.9740063 -8.736693e-05 0.004382286 0.01173205 0.0127076 0.996766 0.9751063 0.00214746 0.01221983 0.01007237 FALSE FALSE 1 4.883 . missense_variant MODERATE MKNK1 HGNC 7110 ENST00000371945 9/13 1 tolerated(0.16) benign(0.018) NA ACA C,T 8.236e-06 1:46565075 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 missense_variant 1.946378 0.98921 0.98504 0.706298 0.5271734 0 0.000222399 FALSE NA ENSE00000957489_016 ENSE00000957489 016 1 47030681 47030850 - 32 96 42 T C 47030754 1812 97 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACGACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565081 46565082 46565082 exon -42 0.5729167 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACGACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 1434 1530 0.9981407 0.9992 0.9986704 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02193449 0.02519371 0.996766 0.9751063 NA 0.0235641 NA FALSE NA 1 6.237 . missense_variant MODERATE MKNK1 HGNC 7110 ENST00000371945 9/13 1 tolerated(0.56) benign(0.002) NA TTG T,C 8.236e-06 1:46565082 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 missense_variant 1.957732 0.98956 0.97899 0.706298 0.9936225 0 0.000222399 FALSE 4.06062e-06 ENSE00000957489_017 ENSE00000957489 017 1 47030681 47030850 - 32 96 42 G A 47030755 1813 96 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAATAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565082 46565083 46565083 exon -43 0.5625 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAATAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 649 880 1 0.9955128 0.9977564 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02379374 0.02150647 0.996766 0.9751063 NA 0.02265011 NA FALSE NA 1 4.827 . synonymous_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/13 1 NA TGT G,A 8.236e-06 1:46565083 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 synonymous_variant 0.904527 0.99204 0.97756 0.706298 0.7372715 0 0.000222399 FALSE 4.06058e-06 ENSE00000957489_018 ENSE00000957489 018 1 47030681 47030850 - 32 96 42 G A 47030760 1814 91 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAATTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565087 46565088 46565088 exon -48 0.5104167 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAATTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 101 1335 1 0.9935298 0.9967649 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02379374 0.01952351 0.996766 0.9751063 NA 0.02165863 NA FALSE NA 0.999 0.653 . synonymous_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/13 1 NA AGT G,A 4.942e-05 1:46565088 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 synonymous_variant 1.057671 0.97999 0.89409 0.706298 0.7517839 0 0.000222399 FALSE 3.65453e-05 ENSE00000957489_019 ENSE00000957489 019 1 47030681 47030850 - 32 96 42 C T 47030774 1815 77 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGACAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565101 46565102 46565102 exon 35 0.3645833 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGACAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 665 206 0.9944654 0.9958293 0.9951474 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.01825918 0.02182297 0.996766 0.9751063 NA 0.02004107 NA FALSE NA 1 7.766 rs141505843 missense_variant MODERATE MKNK1 HGNC 7110 ENST00000371945 9/13 rs141505843 1 deleterious(0) possibly_damaging(0.676) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0007 GCC C,T 0.0003542 1:46565102 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 missense_variant 6.874088 0.99536 0.99196 0.706298 0.9986899 0 0.000222399 FALSE 0.000572547 ENSE00000957489_020 ENSE00000957489 020 1 47030681 47030850 - 32 96 42 C T 47030776 1816 75 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTAGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565103 46565104 46565104 exon 33 0.34375 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTAGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 136 912 1 0.9999583 0.9999791 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.02379374 0.02595193 0.996766 0.9751063 NA 0.02487284 NA FALSE NA 1 1.433 . synonymous_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/13 rs199754439 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCA C,T 8.236e-06 1:46565104 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 synonymous_variant 1.502352 0.97548 0.85938 0.706298 0.7223367 0 0.000222399 FALSE 4.06062e-06 ENSE00000957489_021 ENSE00000957489 021 1 47030681 47030850 - 32 96 42 G A 47030785 1817 66 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGATTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565112 46565113 46565113 exon 24 0.25 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGATTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 417 230 0.9834243 0.9157001 0.9495622 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.007218029 -0.0583062 0.996766 0.9751063 NA -0.02554409 NA FALSE NA 1 4.614 . synonymous_variant LOW MKNK1 HGNC 7110 ENST00000371945 9/13 1 NA AGT G,A 8.236e-06 1:46565113 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 synonymous_variant 1.017575 0.98863 0.97155 0.706298 0.6605535 0 0.000222399 FALSE 4.06058e-06 ENSE00000957489_023 ENSE00000957489 023 1 47030681 47030850 - 32 96 42 A G 47030821 1819 30 GTTTCTTATATCTGTGACCCTGTCTTCTGCTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565148 46565149 46565149 upstr_intron -13 -0.2857143 GTTTCTTATATCTGTGACCCTGTCTTCTGCTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 1236 328 0.9995664 0.9998839 0.9997251 0.9979143 0.9956177 0.9762063 0.9740063 NA NA 0.0233601 0.02587756 0.996766 0.9751063 NA 0.02461883 NA FALSE NA 0 1.624 . intron_variant MODIFIER MKNK1 HGNC 7110 ENST00000371945 8/12 rs374962951 1 NA G:0 G:0.0001 AAC A,G 0.0001318 1:46565149 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 non_coding_transcript_exon_variant 2.344624 0.31758 0.21097 0.099367 0.8897588 0.198873 0.000222399 FALSE 0.00012182 ENSE00000957489_024 ENSE00000957489 024 1 47030681 47030850 - 32 96 42 A G 47030823 1820 28 GTTTCTTATATCTGTGACCCTGTCTTCCGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565150 46565151 46565151 upstr_intron -15 -0.3333333 GTTTCTTATATCTGTGACCCTGTCTTCCGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant 18 14 0.9704019 0.997243 0.9838224 NA NA NA NA NA 0.9979143 0.9956177 0.9762063 0.9740063 -0.0275124 0.001625279 NA NA 0.996766 0.9751063 -0.01294356 NA NA NA FALSE 0.001 1.851 . intron_variant MODIFIER MKNK1 HGNC 7110 ENST00000371945 8/12 1 NA CAG A,G 1.647e-05 1:46565151 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 non_coding_transcript_exon_variant 2.150546 0.34166 0.23497 0.099367 0.8460391 0.198873 0.000222399 FALSE 1.21819e-05 ENSE00000957489_025 ENSE00000957489 025 1 47030681 47030850 - 32 96 42 G A 47030832 1821 19 GTTTCTTATATCTGTGACTCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565159 46565160 46565160 upstr_intron -24 -0.547619 GTTTCTTATATCTGTGACTCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 67 453 0.9713549 0.9999159 0.9856354 0.9979143 0.9956177 0.9762063 0.9740063 NA NA -0.004851344 0.02590961 0.996766 0.9751063 NA 0.01052913 NA FALSE NA 0.002 0.661 . intron_variant MODIFIER MKNK1 HGNC 7110 ENST00000371945 8/12 1 NA GGG G,A 8.236e-06 1:46565160 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 non_coding_transcript_exon_variant 0.177385 0.21205 0.04187 0.099367 0.6928954 0.046875 0.000222399 FALSE 4.06091e-06 ENSE00000961384_002 ENSE00000961384 002 1 230923218 230923387 + 50 81 39 C T 230923235 5213 18 GTTTCTTTTTTGTGGATTATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787488 230787489 230787489 upstr_intron -33 -0.64 GTTTCTTTTTTGTGGATTATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 1205 181 0.9912197 1 0.9956098 NA NA 0.9079896 0.952083 NA NA 0.08323012 0.04791701 NA 0.9300363 NA 0.06557357 NA FALSE NA 0 0.105 rs190506015 intron_variant MODIFIER CAPN9 HGNC 1486 ENST00000271971 12/19 rs190506015 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 TCA C,T 8.237e-06 1:230787489 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 intron_variant 0.303913 0.2601 0.03383 0.06567 0.4370382 0.0797344 1.733275e-11 FALSE NA ENSE00000961384_003 ENSE00000961384 003 1 230923218 230923387 + 50 81 39 T G 230923249 5214 32 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTGTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787502 230787503 230787503 upstr_intron -19 -0.36 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTGTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 271 942 0.9973895 0.990849 0.9941192 NA NA 0.9079896 0.952083 NA NA 0.0893999 0.03876602 NA 0.9300363 NA 0.06408296 NA FALSE NA 0.002 1.079 . intron_variant MODIFIER CAPN9 HGNC 1486 ENST00000271971 12/19 rs373211377 1 NA G:0.0002 G:0 TTT T,G 1.647e-05 1:230787503 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 intron_variant 0.156098 0.23892 0.09589 0.06567 0.3895239 0.046323 1.733275e-11 FALSE 8.13756e-06 ENSE00000961384_004 ENSE00000961384 004 1 230923218 230923387 + 50 81 39 T C 230923252 5215 35 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCCTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787505 230787506 230787506 upstr_intron -16 -0.3 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCCTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 58 27 1 0.9203174 0.9601587 NA NA 0.9079896 0.952083 NA NA 0.09201044 -0.03176561 NA 0.9300363 NA 0.03012242 NA FALSE NA 0.727 3.633 . intron_variant MODIFIER CAPN9 HGNC 1486 ENST00000271971 12/19 rs376472471 1 NA C:0 C:0.0001 CTT T,C 4.118e-05 1:230787506 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 intron_variant 0.106748 0.33891 0.22128 0.06567 0.3134053 0.0463572 1.733275e-11 FALSE 3.66312e-05 ENSE00000961384_005 ENSE00000961384 005 1 230923218 230923387 + 50 81 39 C T 230923277 5216 60 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGTCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787530 230787531 230787531 exon 10 0.1234568 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGTCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 293 672 0.9983022 0.9888241 0.9935632 NA NA 0.9079896 0.952083 NA NA 0.09031268 0.03674112 NA 0.9300363 NA 0.0635269 NA FALSE NA 0.039 4.505 . missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 COSM1320398&COSM1320397 1 tolerated(0.14) possibly_damaging(0.725) NA GCC C,T 8.236e-06 1:230787531 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant 2.341915 0.61438 0.86235 0.549168 0.9950488 0 1.733275e-11 FALSE 4.06332e-06 ENSE00000961384_007 ENSE00000961384 007 1 230923218 230923387 + 50 81 39 C T 230923284 5218 67 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCTACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787537 230787538 230787538 exon 17 0.2098765 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCTACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 310 53 0.9930961 1 0.9965481 NA NA 0.9079896 0.952083 NA NA 0.08510658 0.04791701 NA 0.9300363 NA 0.0665118 NA FALSE NA 0 0.428 . missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 1 tolerated(0.22) benign(0.003) NA CCA C,T 8.236e-06 1:230787538 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant 0.984806 0.30144 0.06084 0.549168 0.6709505 0 1.733275e-11 FALSE 4.06279e-06 ENSE00000961384_008 ENSE00000961384 008 1 230923218 230923387 + 50 81 39 T A 230923288 5219 71 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCAGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787541 230787542 230787542 exon 21 0.2592593 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCAGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 95 1552 1 0.9962656 0.9981328 NA NA 0.9079896 0.952083 NA NA 0.09201044 0.04418261 NA 0.9300363 NA 0.06809653 NA FALSE NA 0 -1.389 . synonymous_variant LOW CAPN9 HGNC 1486 ENST00000271971 13/20 1 NA CTG T,A 1.647e-05 1:230787542 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 synonymous_variant 0.355415 0.17419 0.02316 0.549168 0.8011451 0 1.733275e-11 FALSE 8.12539e-06 ENSE00000961384_010 ENSE00000961384 010 1 230923218 230923387 + 50 81 39 C T 230923313 5221 96 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGTGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787566 230787567 230787567 exon -36 0.5679012 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGTGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 106 765 0.8023749 0.7062515 0.7543132 NA NA 0.9079896 0.952083 NA NA -0.1056147 -0.2458315 NA 0.9300363 NA -0.1757231 NA FALSE NA 0.005 0.779 rs12731961 missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 rs12731961 1 deleterious(0) benign(0.205) T:0.1961 T:0.3207 T:0.1542 NA T:0.0813 T:0.1819 T:0.1902 T:0.2848 T:0.1931 GCG C,T 0.191 1:230787567 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant 3.986773 0.31099 0.12062 0.549168 0.9943568 0 1.733275e-11 FALSE 0.188548 ENSE00000961384_011 ENSE00000961384 011 1 230923218 230923387 + 50 81 39 G A 230923314 5222 97 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCAGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787567 230787568 230787568 exon -35 0.5802469 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCAGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 1255 396 0.9833814 0.9813398 0.9823606 NA NA 0.9079896 0.952083 NA NA 0.07539188 0.02925684 NA 0.9300363 NA 0.05232436 NA FALSE NA 0.265 1.318 . missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 1 tolerated(1) benign(0) NA CGG G,A 8.236e-06 1:230787568 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant -0.302164 0.25993 0.01297 0.549168 0.6865225 0 1.733275e-11 FALSE 8.12585e-06 ENSE00000961384_012 ENSE00000961384 012 1 230923218 230923387 + 50 81 39 C T 230923319 5223 102 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTTGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787572 230787573 230787573 exon -30 0.6419753 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTTGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 809 577 0.7980121 0.8026228 0.8003175 NA NA 0.9079896 0.952083 NA NA -0.1099775 -0.1494602 NA 0.9300363 NA -0.1297188 NA FALSE NA 0.301 1.956 . missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 rs570738654 1 deleterious(0.02) possibly_damaging(0.681) T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 TCG C,T 9.06e-05 1:230787573 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant 6.418289 0.98003 0.85218 0.446893 0.9988872 0 1.733275e-11 FALSE 7.31398e-05 ENSE00000961384_014 ENSE00000961384 014 1 230923218 230923387 + 50 81 39 C A 230923323 5225 106 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGATCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787576 230787577 230787577 exon -26 0.691358 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGATCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 285 213 0.9973715 0.9961574 0.9967645 NA NA 0.9079896 0.952083 NA NA 0.08938192 0.04407445 NA 0.9300363 NA 0.06672818 NA FALSE NA 0 0.911 rs142552467 missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 rs142552467 1 tolerated(0.47) benign(0.13) A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 GCT C,A 0.0001565 1:230787577 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant 1.503796 0.39743 0.09404 0.446893 0.8727519 0 1.733275e-11 FALSE 8.93931e-05 ENSE00000961384_015 ENSE00000961384 015 1 230923218 230923387 + 50 81 39 C G 230923325 5226 108 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTGTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787578 230787579 230787579 exon -24 0.7160494 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTGTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 384 165 1 0.9978702 0.9989351 NA NA 0.9079896 0.952083 NA NA 0.09201044 0.04578717 NA 0.9300363 NA 0.0688988 NA FALSE NA 0 0.021 . missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 rs199898968 1 deleterious(0.04) benign(0.005) NA G:0 G:0.0001 TCT C,G 8.236e-06 1:230787579 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant 1.406693 0.58356 0.10005 0.446893 0.9662953 0 1.733275e-11 FALSE 8.12717e-06 ENSE00000961384_016 ENSE00000961384 016 1 230923218 230923387 + 50 81 39 T G 230923326 5227 109 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCGGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787579 230787580 230787580 exon -23 0.7283951 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCGGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 26 86 1 1 1 NA NA 0.9079896 0.952083 NA NA 0.09201044 0.04791701 NA 0.9300363 NA 0.06996373 NA FALSE NA 1 6.3 . missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 1 deleterious(0) possibly_damaging(0.612) NA CTG T,G 8.236e-06 1:230787580 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant 4.967638 0.98874 0.97144 0.446893 0.9933107 0 1.733275e-11 FALSE NA ENSE00000961384_018 ENSE00000961384 018 1 230923218 230923387 + 50 81 39 G A 230923340 5229 123 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCACTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787593 230787594 230787594 exon -9 0.9012346 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCACTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant 13 13 0.85 0.85 0.85 454 458 0.8880172 0.8469044 0.8674608 NA NA 0.9079896 0.952083 NA NA -0.01997237 -0.1051786 NA 0.9300363 NA -0.06257546 NA FALSE NA 0.968 2.685 rs139326872 missense_variant MODERATE CAPN9 HGNC 1486 ENST00000271971 13/20 rs139326872 1 deleterious(0.02) benign(0.408) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0005 A:0 CGC G,A 6.589e-05 1:230787594 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 missense_variant 3.952308 0.97816 0.89422 0.603402 0.9882972 0 1.733275e-11 FALSE 0.000105655 ENSE00000961384_020 ENSE00000961384 020 1 230923218 230923387 + 50 81 39 G A 230923348 5231 131 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAAGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG 230787471 230787641 230787601 230787602 230787602 exon -1 1 GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAAGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG GTTTCTTTTTTGTGGATCATTTTGTGCAAGTTTCTTTGGCTGTTTTTTAGCCTCCAAAGCCAACTCCACCTGACCAGGAGACAGAGGAGGAGCAGCGGTTTCGGGCTCTGTTTGAACAAGTCGCTGGTGAGGTAGGACATGCCCCACTTCCATCTCCCCACCAGGCTGAG mutant NA NA NA NA NA 548 889 0 0.000359859 0.0001799295 NA NA 0.9079896 0.952083 NA NA -0.9079896 -0.9517231 NA 0.9300363 NA -0.9298563 NA TRUE NA 1 3.881 . splice_region_variant&synonymous_variant LOW CAPN9 HGNC 1486 ENST00000271971 13/20 1 NA AGG G,A 1.647e-05 1:230787602 CAPN9 HGNC Symbol protein_coding 54619 ENSG00000135773 ENSE00000961384 splice_region_variant 0.550846 0.98631 0.91425 0.603402 0.6594883 0 1.733275e-11 FALSE 8.12797e-06 ENSE00000979593_002 ENSE00000979593 002 8 10690369 10690538 - 33 93 44 G A 10690384 82 155 AAAGACACCCAGGAGACACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832873 10832874 10832874 downstr_intron 18 1.5625 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGTCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 266 661 0.9776124 0.9362189 0.9569157 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.04089914 -0.01859478 0.9939182 0.9457635 NA 0.01115218 NA FALSE NA 0.256 -0.19 . intron_variant MODIFIER SOX7 Uniprot_gn 18196 ENST00000554914 3/5 1 NA GGC G,A 8.27e-06 8:10832874 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 intron_variant 0.063103 0.13421 0.16821 0.295142 0.486912 0.139315 NA NA NA ENSE00000979593_004 ENSE00000979593 004 8 10690369 10690538 - 33 93 44 G C 10690396 84 143 AAAGACACCCAGGAGGCACACACTGCTCCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832885 10832886 10832886 downstr_intron 6 1.1875 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGGAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 98 359 0.9965913 1 0.9982957 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.05987805 0.04518632 0.9939182 0.9457635 NA 0.05253219 NA FALSE NA 0.905 0.952 . splice_region_variant&intron_variant LOW SOX7 Uniprot_gn 18196 ENST00000554914 3/5 rs200191266 1 C:0.0004 C:0 C:0.0029 NA C:0 C:0 C:0 C:0.0005 C:0.0004 TGC G,C 0.0003143 8:10832886 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 splice_region_variant 0.640511 0.97605 0.94336 0.295142 0.7961583 0.483173 NA NA 0.000263772 ENSE00000979593_006 ENSE00000979593 006 8 10690369 10690538 - 33 93 44 T C 10690409 86 130 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTACTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832898 10832899 10832899 exon -8 0.9247312 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAGTAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 757 487 0.9979695 1 0.9989847 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.06125619 0.04518632 0.9939182 0.9457635 NA 0.05322126 NA FALSE NA 1 0.807 . missense_variant MODERATE SOX7 Uniprot_gn 18196 ENST00000554914 3/6 rs373331383 1 tolerated_low_confidence(0.08) benign(0.035) NA C:0.0005 C:0 ATT T,C 8.271e-05 8:10832899 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 missense_variant 0.494135 0.95243 0.73009 0.706548 0.8567651 0 NA NA 4.50273e-05 ENSE00000979593_009 ENSE00000979593 009 8 10690369 10690538 - 33 93 44 C T 10690421 89 118 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTTCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832910 10832911 10832911 exon -20 0.7956989 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGAAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 28 76 0.9944811 1 0.9972406 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.05776788 0.04518632 0.9939182 0.9457635 NA 0.0514771 NA FALSE NA 1 6.86 . missense_variant MODERATE SOX7 Uniprot_gn 18196 ENST00000554914 3/6 1 deleterious_low_confidence(0) probably_damaging(0.998) NA TCC C,T 8.272e-06 8:10832911 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 missense_variant 6.551058 0.99214 0.99512 0.706548 0.9976566 0 NA NA 1.22629e-05 ENSE00000979593_010 ENSE00000979593 010 8 10690369 10690538 - 33 93 44 C T 10690422 90 117 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCTGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832911 10832912 10832912 exon -21 0.7849462 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCAGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 244 80 0.9871941 0.9975336 0.9923639 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.05048086 0.04271991 0.9939182 0.9457635 NA 0.04660038 NA FALSE NA 1 6.86 . missense_variant MODERATE SOX7 Uniprot_gn 18196 ENST00000554914 3/6 rs377715499 1 deleterious_low_confidence(0) probably_damaging(0.999) NA T:0 T:0.0001 CCG C,T 2.482e-05 8:10832912 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 missense_variant 7.03817 0.99214 0.99512 0.706548 0.9994066 0 NA NA 2.0445e-05 ENSE00000979593_013 ENSE00000979593 013 8 10690369 10690538 - 33 93 44 C A 10690429 93 110 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCAAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832918 10832919 10832919 exon -28 0.7096774 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTTGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 21 60 1 1 1 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.06328673 0.04518632 0.9939182 0.9457635 NA 0.05423653 NA FALSE NA 0.998 0.684 . synonymous_variant LOW SOX7 Uniprot_gn 18196 ENST00000554914 3/6 1 NA CCA C,A 4.964e-05 8:10832919 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 synonymous_variant 2.303661 0.96852 0.7766 0.706548 0.808581 0 NA NA 4.49431e-05 ENSE00000979593_015 ENSE00000979593 015 8 10690369 10690538 - 33 93 44 T A 10690433 95 106 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGAGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832922 10832923 10832923 exon -32 0.6666667 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCTCCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 185 600 0.9933058 0.9968237 0.9950648 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.05659256 0.04201 0.9939182 0.9457635 NA 0.04930128 NA FALSE NA 0.459 0.652 . missense_variant MODERATE SOX7 Uniprot_gn 18196 ENST00000554914 3/6 rs555750544 1 tolerated_low_confidence(0.16) benign(0.023) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 GTG T,A 4.137e-05 8:10832923 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 missense_variant 3.870425 0.97012 0.9158 0.706548 0.9574699 0 NA NA 1.63482e-05 ENSE00000979593_019 ENSE00000979593 019 8 10690369 10690538 - 33 93 44 A G 10690438 99 101 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTGTTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832927 10832928 10832928 exon -37 0.6129032 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAACAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 73 598 1 0.9960121 0.998006 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.06328673 0.04119838 0.9939182 0.9457635 NA 0.05224256 NA FALSE NA 0.999 0.853 . synonymous_variant LOW SOX7 Uniprot_gn 18196 ENST00000554914 3/6 1 NA TAT A,G 2.482e-05 8:10832928 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 synonymous_variant 0.682669 0.961 0.67063 0.706548 0.5863355 0 NA NA 2.0434e-05 ENSE00000979593_020 ENSE00000979593 020 8 10690369 10690538 - 33 93 44 T A 10690447 100 92 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACATGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832936 10832937 10832937 exon -46 0.516129 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCATGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 12 638 1 0.9819805 0.9909902 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.06328673 0.02716679 0.9939182 0.9457635 NA 0.04522676 NA FALSE NA 1 1.424 . missense_variant MODERATE SOX7 Uniprot_gn 18196 ENST00000554914 3/6 1 deleterious_low_confidence(0.05) benign(0.127) NA CTT T,A 8.275e-06 8:10832937 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 missense_variant 3.497205 0.96404 0.91883 0.706548 0.9966402 0 NA NA 4.09048e-06 ENSE00000979593_022 ENSE00000979593 022 8 10690369 10690538 - 33 93 44 T A 10690465 102 74 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCAGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832954 10832955 10832955 exon 30 0.3225806 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACTGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 455 302 0.999663 1 0.9998315 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.06294977 0.04518632 0.9939182 0.9457635 NA 0.05406805 NA FALSE NA 1 0.829 . synonymous_variant LOW SOX7 Uniprot_gn 18196 ENST00000554914 3/6 1 NA CTG T,A 8.277e-06 8:10832955 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 synonymous_variant 1.10835 0.96182 0.78946 0.706548 0.6769066 0 NA NA 4.11702e-06 ENSE00000979593_024 ENSE00000979593 024 8 10690369 10690538 - 33 93 44 C T 10690473 104 66 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCTTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832962 10832963 10832963 exon 22 0.2365591 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAAGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 386 435 0.997848 1 0.998924 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.06113471 0.04518632 0.9939182 0.9457635 NA 0.05316052 NA FALSE NA 1 6.902 . missense_variant MODERATE SOX7 Uniprot_gn 18196 ENST00000554914 3/6 1 deleterious_low_confidence(0) probably_damaging(1) NA CCT C,T 8.277e-06 8:10832963 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 missense_variant 7.129286 0.99147 0.98976 0.706548 0.9993897 0 NA NA 4.13247e-06 ENSE00000979593_030 ENSE00000979593 030 8 10690369 10690538 - 33 93 44 A C 10690492 110 47 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAACCCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832981 10832982 10832982 exon 3 0.03225806 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGGTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 294 1958 0.9835109 0.9936678 0.9885894 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.04679768 0.03885417 0.9939182 0.9457635 NA 0.04282593 NA FALSE NA 0.437 -0.433 . splice_region_variant&synonymous_variant LOW SOX7 Uniprot_gn 18196 ENST00000554914 3/6 rs376624915 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 AAC A,C 0.0001407 8:10832982 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 splice_region_variant 1.41911 0.95767 0.49525 0.706548 0.8747712 0 NA NA 0.000109922 ENSE00000979593_034 ENSE00000979593 034 8 10690369 10690538 - 33 93 44 C T 10690509 114 30 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGGTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAATACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832998 10832999 10832999 upstr_intron -15 -0.3181818 TCAGTGAGAGGAATGTTCTAACTCTCTGTATTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 1361 247 0.9976482 0.9922444 0.9949463 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.0609349 0.03743069 0.9939182 0.9457635 NA 0.04918279 NA FALSE NA 0.165 -0.058 rs6993753 intron_variant MODIFIER SOX7 Uniprot_gn 18196 ENST00000554914 2/5 rs6993753&TMP_ESP_8_10690509_10690509 1 T:0.0805 T:0.1286 T:0.0749 NA T:0.002& T:0.0586 T:0.1227& T:0.0894&-:0 T:0.0544&-:0.0001 ACA C,T 0.057 8:10832999 AC105001.2 Clone-based (Ensembl) gene protein_coding 114448 ENSG00000258724 ENSE00003590945 intron_variant 1.724766 0.95415 0.29595 0.099367 0.7335978 0.872631 NA NA 0.0591745 ENSE00000996423_001 ENSE00000996423 001 11 114314527 114314696 + 51 78 41 T G 114314546 2532 20 TAAGGTTATTCCTGTTGTTGCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443823 114443824 114443824 upstr_intron -32 -0.6078431 TAAGGTTATTCCTGTTGTTGCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 748 602 0.9673067 0.9554368 0.9613717 0.9260399 0.8761262 0.9026934 0.899776 NA NA 0.06461323 0.05566076 0.901083 0.9012347 NA 0.060137 NA FALSE NA 0.02 1.205 . upstream_gene_variant MODIFIER REXO2 HGNC 17851 ENST00000540492 rs372611718 1 NA G:0 G:0.0001 TTC T,G 8.255e-06 11:114443824 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 intron_variant -0.627409 0.24824 0.24603 0.164513 0.6475599 0.1063 0.8884287 FALSE 4.85918e-06 ENSE00000996423_004 ENSE00000996423 004 11 114314527 114314696 + 51 78 41 C T 114314562 2535 36 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGTGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443839 114443840 114443840 upstr_intron -16 -0.2941176 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGTGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 92 166 1 0.9793986 0.9896993 0.9260399 0.8761262 0.9026934 0.899776 NA NA 0.09730657 0.07962258 0.901083 0.9012347 NA 0.08846458 NA FALSE NA 0.131 0.735 . upstream_gene_variant MODIFIER REXO2 HGNC 17851 ENST00000540492 1 NA GCG C,T 0.0001814 11:114443840 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 intron_variant -0.430468 0.224 0.10582 0.164513 0.5267505 0.746757 0.8884287 FALSE 0.00020825 ENSE00000996423_010 ENSE00000996423 010 11 114314527 114314696 + 51 78 41 A G 114314604 2541 78 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCGGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443881 114443882 114443882 exon 27 0.3461538 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCGGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 526 433 0.9967055 0.9999121 0.9983088 0.9260399 0.8761262 0.9026934 0.899776 NA NA 0.09401209 0.1001361 0.901083 0.9012347 NA 0.09707407 NA FALSE NA 1 1.048 . upstream_gene_variant MODIFIER REXO2 HGNC 17851 ENST00000540492 1 NA CAG A,G 2.472e-05 11:114443882 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 synonymous_variant 0.019618 0.9665 0.84244 0.736574 0.8390639 0 0.8884287 FALSE 1.25724e-05 ENSE00000996423_011 ENSE00000996423 011 11 114314527 114314696 + 51 78 41 G C 114314605 2542 79 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCACATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443882 114443883 114443883 exon 28 0.3589744 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCACATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 266 87 0.9098471 0.8301052 0.8699761 0.9260399 0.8761262 0.9026934 0.899776 NA NA 0.007153639 -0.06967085 0.901083 0.9012347 NA -0.0312586 NA FALSE NA 1 5.408 . upstream_gene_variant MODIFIER REXO2 HGNC 17851 ENST00000540492 1 NA AGA G,C 8.239e-06 11:114443883 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 missense_variant 5.683982 0.99054 0.98706 0.736574 0.9954993 0 0.8884287 FALSE 8.37703e-06 ENSE00000996423_012 ENSE00000996423 012 11 114314527 114314696 + 51 78 41 T G 114314607 2543 81 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGAGGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443884 114443885 114443885 exon 30 0.3846154 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGAGGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 487 889 1 0.9931789 0.9965894 0.9260399 0.8761262 0.9026934 0.899776 NA NA 0.09730657 0.09340285 0.901083 0.9012347 NA 0.09535471 NA FALSE NA 1 0.63 rs114077514 upstream_gene_variant MODIFIER REXO2 HGNC 17851 ENST00000540492 rs114077514 1 G:0.0012 G:0 G:0 NA G:0.005 G:0 G:0.001 ATG T,G 0.0002884 11:114443885 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 missense_variant 1.301018 0.96873 0.92184 0.736574 0.9784069 0 0.8884287 FALSE 0.000330549 ENSE00000996423_014 ENSE00000996423 014 11 114314527 114314696 + 51 78 41 C T 114314614 2545 88 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGTTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443891 114443892 114443892 exon 37 0.474359 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGTTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 1278 1526 0.8004719 0.800426 0.8004489 0.9260399 0.8761262 0.9026934 0.899776 NA NA -0.1022215 -0.09935004 0.901083 0.9012347 NA -0.1007858 NA FALSE NA 1 3.173 . upstream_gene_variant MODIFIER REXO2 HGNC 17851 ENST00000540492 1 NA GCT C,T 8.239e-06 11:114443892 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 synonymous_variant 1.05508 0.98971 0.96191 0.736574 0.9392205 0 0.8884287 FALSE NA ENSE00000996423_018 ENSE00000996423 018 11 114314527 114314696 + 51 78 41 G A 114314641 2549 115 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGAAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443918 114443919 114443919 exon -15 0.8205128 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGAAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 81 258 0.9655894 0.9901315 0.9778604 0.9260399 0.8761262 0.9026934 0.899776 NA NA 0.06289596 0.09035548 0.901083 0.9012347 NA 0.07662572 NA FALSE NA 1 9.597 rs143578716 upstream_gene_variant MODIFIER REXO2 HGNC 17851 ENST00000540492 rs143578716 1 NA A:0.0002 A:0.0002 GGA G,A 4.12e-05 11:114443919 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 missense_variant 2.898731 0.97137 0.96913 0.736574 0.9864237 0 0.8884287 FALSE 5.08785e-05 ENSE00000996423_019 ENSE00000996423 019 11 114314527 114314696 + 51 78 41 C T 114314649 2550 123 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCATGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443926 114443927 114443927 exon -7 0.9230769 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCATGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 21 361 0.9528635 0.9561304 0.954497 0.9260399 0.8761262 0.9026934 0.899776 NA NA 0.05017005 0.05635442 0.901083 0.9012347 NA 0.05326224 NA FALSE NA 0.562 -0.279 rs151260750 upstream_gene_variant MODIFIER REXO2 HGNC 17851 ENST00000540492 rs151260750 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0001 ACG C,T 3.297e-05 11:114443927 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 synonymous_variant 0.772316 0.87128 0.24633 0.736574 0.6995844 0 0.8884287 FALSE 3.43203e-05 ENSE00000999243_001 ENSE00000999243 001 11 86153833 86154002 - 30 99 41 G T 86153847 2266 156 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTAACCCTGTAATATGGG 86442790 86442960 86442804 86442805 86442805 downstr_intron 16 1.551724 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTAACCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant NA NA NA NA NA 280 936 0.8 0.8631829 0.8315915 0.809425 0.8080837 0.7851016 0.7496241 NA NA 0.01489845 0.1135589 0.8087543 0.7673628 NA 0.06422866 NA FALSE NA 0.001 0.189 . intron_variant MODIFIER ME3 HGNC 6985 ENST00000359636 14/14 1 NA GGT G,T 8.236e-06 11:86442805 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 0.269218 0.25635 0.04815 0.074898 0.7518886 0.0654979 1.141882e-05 FALSE 8.19544e-06 ENSE00000999243_002 ENSE00000999243 002 11 86153833 86154002 - 30 99 41 T C 86153853 2267 150 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCGTCCTACCCCTGTAATATGGG 86442790 86442960 86442810 86442811 86442811 downstr_intron 10 1.344828 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCGTCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 89 80 0.7088379 0.755316 0.7320769 1644 917 0.7917105 0.8 0.7958552 0.809425 0.8080837 0.7851016 0.7496241 -0.1005871 -0.05276776 0.006608923 0.05037592 0.8087543 0.7673628 -0.07667742 0.02849242 0.1051698 FALSE FALSE 0 -1.16 . intron_variant MODIFIER ME3 HGNC 6985 ENST00000359636 14/14 rs375171987 1 NA C:0.0002 C:0 ATG T,C 8.236e-06 11:86442811 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 0.664311 0.18147 0.01979 0.074388 0.7032486 0.0654979 1.141882e-05 FALSE 4.08771e-06 ENSE00000999243_003 ENSE00000999243 003 11 86153833 86154002 - 30 99 41 C T 86153855 2268 148 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGACATCCTACCCCTGTAATATGGG 86442790 86442960 86442812 86442813 86442813 downstr_intron 8 1.275862 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGACATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 91 149 0.85 0.85 0.85 2216 1186 0.8325665 0.8046316 0.818599 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.04746494 0.0550075 0.8087543 0.7673628 0.04124566 0.05123622 0.009990561 FALSE FALSE 0 -0.516 . splice_region_variant&intron_variant LOW ME3 HGNC 6985 ENST00000359636 14/14 1 NA GCC C,T 1.647e-05 11:86442813 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 splice_region_variant 0.623716 0.21073 0.02154 0.074388 0.7263722 0.0746485 1.141882e-05 FALSE 8.17428e-06 ENSE00000999243_004 ENSE00000999243 004 11 86153833 86154002 - 30 99 41 T C 86153868 2269 135 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCGTCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442825 86442826 86442826 exon -6 0.9494949 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCGTCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 226 356 0.8303503 0.8252005 0.8277754 NA NA NA NA NA 0.809425 0.8080837 0.7851016 0.7496241 0.02092533 0.01711677 NA NA 0.8087543 0.7673628 0.01902105 NA NA NA FALSE 1 2.336 . missense_variant MODERATE ME3 HGNC 6985 ENST00000359636 14/15 1 tolerated(1) benign(0) NA ATG T,C 1.647e-05 11:86442826 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 missense_variant 0.145029 0.92234 0.25498 0.643511 0.7268485 0 1.141882e-05 FALSE 3.26344e-05 ENSE00000999243_005 ENSE00000999243 005 11 86153833 86154002 - 30 99 41 A G 86153873 2270 130 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAACTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442830 86442831 86442831 exon -11 0.8989899 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAACTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 17 28 0.956741 0.85 0.9033705 762 410 0.9689554 0.9852019 0.9770787 0.809425 0.8080837 0.7851016 0.7496241 0.147316 0.04191629 0.1838539 0.2355778 0.8087543 0.7673628 0.09461616 0.2097158 0.1150997 FALSE FALSE 1 8.669 . missense_variant MODERATE ME3 HGNC 6985 ENST00000359636 14/15 1 deleterious(0.01) probably_damaging(0.999) NA AAT A,G 1.647e-05 11:86442831 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 missense_variant 6.472906 0.97639 0.97735 0.643511 0.9980889 0 1.141882e-05 FALSE 8.15794e-06 ENSE00000999243_006 ENSE00000999243 006 11 86153833 86154002 - 30 99 41 G A 86153887 2271 116 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGATGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442844 86442845 86442845 exon -25 0.7575758 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGATGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 315 107 0 0.00609 0.003045 NA NA NA NA NA 0.809425 0.8080837 0.7851016 0.7496241 -0.809425 -0.8019937 NA NA 0.8087543 0.7673628 -0.8057093 NA NA NA TRUE 0.005 -1.518 . synonymous_variant LOW ME3 HGNC 6985 ENST00000359636 14/15 rs368531898 1 NA A:0.0002 A:0 CGT G,A 5.765e-05 11:86442845 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant 1.462691 0.65736 0.04094 0.643511 0.7438737 0 1.141882e-05 FALSE 4.88918e-05 ENSE00000999243_007 ENSE00000999243 007 11 86153833 86154002 - 30 99 41 T A 86153890 2272 113 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGTGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442847 86442848 86442848 exon -28 0.7272727 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGTGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 93 193 0.85 0.85 0.85 662 163 0.8 0.8568489 0.8284244 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.01489845 0.1072248 0.8087543 0.7673628 0.04124566 0.06106163 0.01981597 FALSE FALSE 0.996 0.181 . synonymous_variant LOW ME3 HGNC 6985 ENST00000359636 14/15 1 NA CTC T,A 8.236e-06 11:86442848 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant 0.761566 0.91003 0.69706 0.643511 0.8243844 0 1.141882e-05 FALSE NA ENSE00000999243_008 ENSE00000999243 008 11 86153833 86154002 - 30 99 41 C T 86153891 2273 112 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCAAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442848 86442849 86442849 exon -29 0.7171717 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCAAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant NA NA NA NA NA 337 512 0.05869475 0.1599606 0.1093277 0.809425 0.8080837 0.7851016 0.7496241 NA NA -0.7264068 -0.5896634 0.8087543 0.7673628 NA -0.6580351 NA TRUE NA 1 4.558 . missense_variant MODERATE ME3 HGNC 6985 ENST00000359636 14/15 rs372905882 1 tolerated(0.22) benign(0.003) NA T:0 T:0.0001 TCG C,T 8.237e-05 11:86442849 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 missense_variant 4.461476 0.96171 0.83783 0.643511 0.9975517 0 1.141882e-05 FALSE 8.14558e-05 ENSE00000999243_009 ENSE00000999243 009 11 86153833 86154002 - 30 99 41 G A 86153899 2274 104 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGTACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442856 86442857 86442857 exon -37 0.6363636 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGTACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 315 126 0.004177235 0.02604447 0.01511085 542 488 0.1320735 0.01628238 0.07417795 0.809425 0.8080837 0.7851016 0.7496241 -0.8052477 -0.7820392 -0.653028 -0.7333417 0.8087543 0.7673628 -0.7936435 -0.6931849 0.1004586 TRUE TRUE 0.997 1.233 . synonymous_variant LOW ME3 HGNC 6985 ENST00000359636 14/15 1 NA TGC G,A 2.471e-05 11:86442857 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant 1.044257 0.94366 0.71234 0.643511 0.7998225 0 1.141882e-05 FALSE 1.21997e-05 ENSE00000999243_010 ENSE00000999243 010 11 86153833 86154002 - 30 99 41 G A 86153911 2275 92 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTATCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442868 86442869 86442869 exon -49 0.5151515 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTATCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 66 40 0.1843347 0.2479703 0.2161525 223 242 0 0.1803993 0.09019964 0.809425 0.8080837 0.7851016 0.7496241 -0.6250903 -0.5601134 -0.7851016 -0.5692248 0.8087543 0.7673628 -0.5926019 -0.6771632 0.08456132 TRUE TRUE 1 2.856 rs7548 synonymous_variant LOW ME3 HGNC 6985 ENST00000359636 14/15 rs7548&COSM147299 1 A:0.2143 A:0.1384 A:0.2594 NA A:0.0893 A:0.341 A:0.2832 A:0.1748 A:0.3412 GGT G,A 0.28 11:86442869 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant 0.629834 0.92316 0.53823 0.643511 0.7954574 0 1.141882e-05 FALSE 0.281275 ENSE00000999243_014 ENSE00000999243 014 11 86153833 86154002 - 30 99 41 T A 86153924 2279 79 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCTGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442881 86442882 86442882 exon 38 0.3838384 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCTGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 43 24 0.85 0.85 0.85 42 413 0.8376992 0.7903757 0.8140374 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.05259764 0.04075158 0.8087543 0.7673628 0.04124566 0.04667461 0.005428951 FALSE FALSE 1 7.553 . missense_variant MODERATE ME3 HGNC 6985 ENST00000359636 14/15 1 tolerated(0.08) benign(0.001) NA CTG T,A 8.236e-06 11:86442882 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 missense_variant 3.671206 0.96845 0.93875 0.643511 0.9885209 0 1.141882e-05 FALSE 4.06636e-06 ENSE00000999243_015 ENSE00000999243 015 11 86153833 86154002 - 30 99 41 G C 86153927 2280 76 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTGCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442884 86442885 86442885 exon 35 0.3535354 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTGCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 250 257 0.8521926 0.85 0.8510963 672 454 0.7876309 0.6546475 0.7211392 0.809425 0.8080837 0.7851016 0.7496241 0.04276764 0.04191629 0.002529302 -0.09497656 0.8087543 0.7673628 0.04234196 -0.04622363 0.08856559 FALSE FALSE 1 6.139 . missense_variant MODERATE ME3 HGNC 6985 ENST00000359636 14/15 1 deleterious(0.04) possibly_damaging(0.684) NA GGA G,C 8.236e-06 11:86442885 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 missense_variant 5.394268 0.95462 0.90373 0.643511 0.990893 0 1.141882e-05 FALSE 4.0659e-06 ENSE00000999243_016 ENSE00000999243 016 11 86153833 86154002 - 30 99 41 A G 86153932 2281 71 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCACCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442889 86442890 86442890 exon 30 0.3030303 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCACCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 180 192 0.85 0.85 0.85 1823 2415 0.7858776 0.8136153 0.7997464 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.0007760068 0.06399126 0.8087543 0.7673628 0.04124566 0.03238363 0.008862023 FALSE FALSE 1 1.324 . synonymous_variant LOW ME3 HGNC 6985 ENST00000359636 14/15 1 NA GAT A,G 1.647e-05 11:86442890 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant -0.192744 0.90444 0.52186 0.643511 0.6805594 0 1.141882e-05 FALSE 8.13292e-06 ENSE00000999243_017 ENSE00000999243 017 11 86153833 86154002 - 30 99 41 C T 86153938 2282 65 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAACAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442895 86442896 86442896 exon 24 0.2424242 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAACAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 46 71 0.85 0.85 0.85 243 441 0.7912747 0.8154492 0.8033619 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.006173133 0.06582508 0.8087543 0.7673628 0.04124566 0.03599911 0.005246547 FALSE FALSE 0.079 -0.135 . synonymous_variant LOW ME3 HGNC 6985 ENST00000359636 14/15 1 NA GCT C,T 8.237e-06 11:86442896 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant 1.793894 0.90098 0.3731 0.643511 0.7893534 0 1.141882e-05 FALSE NA ENSE00000999243_018 ENSE00000999243 018 11 86153833 86154002 - 30 99 41 G T 86153942 2283 61 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTATGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442899 86442900 86442900 exon 20 0.2020202 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTATGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 26 34 0.85 0.85 0.85 269 522 0.8 0.8047078 0.8023539 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.01489845 0.05508371 0.8087543 0.7673628 0.04124566 0.03499108 0.006254579 FALSE FALSE 1 9.261 . missense_variant MODERATE ME3 HGNC 6985 ENST00000359636 14/15 1 deleterious(0) probably_damaging(0.924) NA AGA G,T 8.237e-06 11:86442900 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 missense_variant 6.943931 0.97545 0.9586 0.643511 0.9948811 0 1.141882e-05 FALSE 4.06898e-06 ENSE00000999243_019 ENSE00000999243 019 11 86153833 86154002 - 30 99 41 T C 86153947 2284 56 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAGGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442904 86442905 86442905 exon 15 0.1515152 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAGGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 30 82 0.85 0.85 0.85 906 432 0.8034435 0.8092903 0.8063669 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.01834192 0.0596662 0.8087543 0.7673628 0.04124566 0.03900406 0.002241595 FALSE FALSE 1 1.133 . synonymous_variant LOW ME3 HGNC 6985 ENST00000359636 14/15 1 NA CTT T,C 8.237e-06 11:86442905 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant 0.372879 0.90806 0.09163 0.643511 0.7555857 0 1.141882e-05 FALSE 4.07057e-06 ENSE00000999243_020 ENSE00000999243 020 11 86153833 86154002 - 30 99 41 C A 86153949 2285 54 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGTAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442906 86442907 86442907 exon 13 0.1313131 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGTAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 600 87 0.01528 0.0150283 0.01515415 1067 52 0.0009219494 0.009811937 0.005366943 0.809425 0.8080837 0.7851016 0.7496241 -0.794145 -0.7930554 -0.7841796 -0.7398121 0.8087543 0.7673628 -0.7936002 -0.7619959 0.03160432 TRUE TRUE 0.765 0.935 . stop_gained HIGH ME3 HGNC 6985 ENST00000359636 14/15 1 NA HC TCC C,A 1.647e-05 11:86442907 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 stop_gained 14.48684 0.94086 0.65081 0.643511 0.99611 0 1.141882e-05 FALSE 2.8497e-05 ENSE00000999243_021 ENSE00000999243 021 11 86153833 86154002 - 30 99 41 C G 86153955 2286 48 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTCCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442912 86442913 86442913 exon 7 0.07070707 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTCCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 29 30 0.2448201 0.1364547 0.1906374 10 605 0.8 0.8004179 0.8002089 0.809425 0.8080837 0.7851016 0.7496241 -0.5646049 -0.671629 0.01489845 0.05079379 0.8087543 0.7673628 -0.6181169 0.03284612 0.6509631 FALSE TRUE 1 2.714 . missense_variant MODERATE ME3 HGNC 6985 ENST00000359636 14/15 1 deleterious(0.01) probably_damaging(1) NA GCA C,G 8.237e-06 11:86442913 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 missense_variant 6.705868 0.96328 0.83941 0.643511 0.9977092 0 1.141882e-05 FALSE 4.07491e-06 ENSE00000999243_022 ENSE00000999243 022 11 86153833 86154002 - 30 99 41 A G 86153956 2287 47 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATCGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442913 86442914 86442914 exon 6 0.06060606 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATCGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 20 14 0.85 0.85 0.85 759 131 0.839763 0.9659463 0.9028547 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.05466148 0.2163222 0.8087543 0.7673628 0.04124566 0.1354918 0.09424619 FALSE FALSE 0.998 0.599 . synonymous_variant LOW ME3 HGNC 6985 ENST00000359636 14/15 rs539702342 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAA A,G 8.237e-06 11:86442914 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant 1.033112 0.91509 0.65671 0.643511 0.751149 0 1.141882e-05 FALSE 4.09068e-06 ENSE00000999243_023 ENSE00000999243 023 11 86153833 86154002 - 30 99 41 G T 86153961 2288 42 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGAAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442918 86442919 86442919 exon 1 0.01010101 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGAAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 148 175 0.85 0.85 0.85 1371 1445 0.7667043 0.7066159 0.7366601 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 -0.01839722 -0.04300814 0.8087543 0.7673628 0.04124566 -0.03070268 0.07194834 FALSE FALSE 1 1.596 . missense_variant&splice_region_variant MODERATE ME3 HGNC 6985 ENST00000359636 14/15 1 tolerated(0.12) benign(0) NA TGC G,T 1.647e-05 11:86442919 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 missense_variant 2.366881 0.91547 0.57384 0.643511 0.9671216 0 1.141882e-05 FALSE 2.85225e-05 ENSE00000999243_024 ENSE00000999243 024 11 86153833 86154002 - 30 99 41 G A 86153964 2289 39 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCTAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442921 86442922 86442922 upstr_intron -3 -0.04878049 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCTAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 26 41 0.85 0.85 0.85 400 1268 0.8121382 0.8052449 0.8086916 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.02703667 0.05562082 0.8087543 0.7673628 0.04124566 0.04132875 8.30889e-05 FALSE FALSE 1 0.68 . splice_region_variant&intron_variant LOW ME3 HGNC 6985 ENST00000359636 13/14 1 NA TGG G,A 1.647e-05 11:86442922 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 splice_region_variant 1.790567 0.91498 0.4355 0.074898 0.8395026 0.384252 1.141882e-05 FALSE 1.22276e-05 ENSE00000999243_025 ENSE00000999243 025 11 86153833 86154002 - 30 99 41 A G 86153970 2290 33 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTCCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442927 86442928 86442928 upstr_intron -9 -0.195122 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTCCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 244 149 0 0 0 28 197 0 0.01327469 0.006637346 0.809425 0.8080837 0.7851016 0.7496241 -0.809425 -0.8080837 -0.7851016 -0.7363494 0.8087543 0.7673628 -0.8087543 -0.7607255 0.04802887 TRUE TRUE 0.991 2.922 . intron_variant MODIFIER ME3 HGNC 6985 ENST00000359636 13/14 rs201037221 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GAA A,G 8.237e-06 11:86442928 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 1.478264 0.39139 0.57197 0.074388 0.8565354 0.245619 1.141882e-05 FALSE 4.0789e-06 ENSE00000999243_026 ENSE00000999243 026 11 86153833 86154002 - 30 99 41 G C 86153973 2291 30 GAGACTCAGCTTATTCCTCTCGGTTCTCTGCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442930 86442931 86442931 upstr_intron -12 -0.2682927 GAGACTCAGCTTATTCCTCTCGGTTCTCTGCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 221 494 0 0 0 988 432 0.01704957 0.003083254 0.01006641 0.809425 0.8080837 0.7851016 0.7496241 -0.809425 -0.8080837 -0.768052 -0.7465408 0.8087543 0.7673628 -0.8087543 -0.7572964 0.05145794 TRUE TRUE 0.216 0.13 . intron_variant MODIFIER ME3 HGNC 6985 ENST00000359636 13/14 1 NA GGA G,C 8.237e-06 11:86442931 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 0.945382 0.34013 0.227 0.074388 0.6880112 0.246879 1.141882e-05 FALSE 4.08991e-06 ENSE00000999243_027 ENSE00000999243 027 11 86153833 86154002 - 30 99 41 G C 86153975 2292 28 GAGACTCAGCTTATTCCTCTCGGTTCTGTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442932 86442933 86442933 upstr_intron -14 -0.3170732 GAGACTCAGCTTATTCCTCTCGGTTCTGTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 565 508 0.004656867 0.02063144 0.01264415 223 1255 0.04345505 0 0.02172752 0.809425 0.8080837 0.7851016 0.7496241 -0.8047681 -0.7874523 -0.7416465 -0.7496241 0.8087543 0.7673628 -0.7961102 -0.7456353 0.0504749 TRUE TRUE 0.337 -0.451 . intron_variant MODIFIER ME3 HGNC 6985 ENST00000359636 13/14 rs373716016 1 NA C:0 C:0.0001 AGA G,C 8.237e-06 11:86442933 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 0.983042 0.24223 0.10819 0.074388 0.6943023 0.225384 1.141882e-05 FALSE 4.09035e-06 ENSE00000999243_030 ENSE00000999243 030 11 86153833 86154002 - 30 99 41 C T 86153981 2295 22 GAGACTCAGCTTATTCCTCTCAGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442938 86442939 86442939 upstr_intron -20 -0.4634146 GAGACTCAGCTTATTCCTCTCAGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 434 246 0.003033316 0.002645611 0.002839463 1250 179 0.05608485 0 0.02804242 0.809425 0.8080837 0.7851016 0.7496241 -0.8063917 -0.8054381 -0.7290167 -0.7496241 0.8087543 0.7673628 -0.8059149 -0.7393204 0.06659449 TRUE TRUE 0 -2.379 . intron_variant MODIFIER ME3 HGNC 6985 ENST00000359636 13/14 1 NA CCG C,T 2.471e-05 11:86442939 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 0.659838 0.2266 0.03421 0.074388 0.7169213 0.064828 1.141882e-05 FALSE 2.46164e-05 ENSE00000999243_031 ENSE00000999243 031 11 86153833 86154002 - 30 99 41 G T 86153986 2296 17 GAGACTCAGCTTATTCATCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442943 86442944 86442944 upstr_intron -25 -0.5853659 GAGACTCAGCTTATTCATCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 80 89 0.85 0.85 0.85 342 350 0.8371517 0.8658719 0.8515118 0.809425 0.8080837 0.7851016 0.7496241 0.04057502 0.04191629 0.05205013 0.1162478 0.8087543 0.7673628 0.04124566 0.08414898 0.04290333 FALSE FALSE 0.054 0.553 . intron_variant MODIFIER ME3 HGNC 6985 ENST00000359636 13/14 1 NA AGG G,T 1.647e-05 11:86442944 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 0.188468 0.26784 0.08537 0.074388 0.6881937 0.064828 1.141882e-05 FALSE 2.06048e-05 ENSE00000999243_032 ENSE00000999243 032 11 86153833 86154002 - 30 99 41 A C 86153988 2297 15 GAGACTCAGCTTATGCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442945 86442946 86442946 upstr_intron -27 -0.6341463 GAGACTCAGCTTATGCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant NA NA NA NA NA 54 309 0.6421146 0.8 0.7210573 0.809425 0.8080837 0.7851016 0.7496241 NA NA -0.1429869 0.05037592 0.8087543 0.7673628 NA -0.0463055 NA FALSE NA 0.027 1.19 rs148753280 intron_variant MODIFIER ME3 HGNC 6985 ENST00000359636 13/14 rs148753280 1 C:0.0004 C:0 C:0 NA C:0 C:0.001 C:0.001 C:0 C:0.0027 GAA A,C 0.002652 11:86442946 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 0.541757 0.29659 0.12201 0.074388 0.7179717 0.064828 1.141882e-05 FALSE 0.00231487 ENSE00001002968_015 ENSE00001002968 015 1 145498052 145498221 + 51 78 41 C T 145498204 3264 153 TTGTGCTCCCCTCATTCACCCCCACTCATAAAATCTCTTACCTGCCGAGAGCATTGTCGTTCCCTCATGGCCTTAAGGCTGCCATTCCAGTGTAGCAGTTGAAAAACTGTCATTAGCTCCTGGGGGAAGAGGATAGGAAGTACCAGGACAGTGATTTTTATATTGGGAGG 145936866 145937036 145936883 145936884 145936884 downstr_intron 24 1.6 CCTCCCAATATAAAAATCACTGTCCTGGTACTTCCTATCCTCTTCCCCCAGGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGCCTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGGTAAGAGATTTTATGAGTGGGGGTGAATGAGGGGAGCACAA CCTCCCAATATAAAAATCACTGTCCTGGTACTTCCTATCCTCTTCCCCCAGGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGCCTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGGTAAGAGATTTTATGAGTGGGGGCGAATGAGGGGAGCACAA mutant NA NA NA NA NA 380 280 1 0.9934885 0.9967443 NA NA 1 0.9968518 NA NA 0 -0.003363276 NA 0.9984259 NA -0.001681638 NA FALSE NA 0 -1.023 . intron_variant&non_coding_transcript_variant MODIFIER RP11-315I20.1 Clone_based_vega_gene NA ENST00000448561 2/2 1 NA GCG C,T 8.236e-06 1:145936882 LIX1L-AS1 HGNC Symbol antisense 32589 ENSG00000234222 NA intron_variant -0.308023 0.1513 0.00412 0.099367 0.6630464 0.0739265 NA NA 8.13081e-06 ENSE00001002968_017 ENSE00001002968 017 1 145498052 145498221 + 51 78 41 G A 145498209 3266 158 TTGTGCTCCCCTTATTCGCCCCCACTCATAAAATCTCTTACCTGCCGAGAGCATTGTCGTTCCCTCATGGCCTTAAGGCTGCCATTCCAGTGTAGCAGTTGAAAAACTGTCATTAGCTCCTGGGGGAAGAGGATAGGAAGTACCAGGACAGTGATTTTTATATTGGGAGG 145936866 145937036 145936878 145936879 145936879 downstr_intron 29 1.725 CCTCCCAATATAAAAATCACTGTCCTGGTACTTCCTATCCTCTTCCCCCAGGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGCCTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGGTAAGAGATTTTATGAGTGGGGGCGAATAAGGGGAGCACAA CCTCCCAATATAAAAATCACTGTCCTGGTACTTCCTATCCTCTTCCCCCAGGAGCTAATGACAGTTTTTCAACTGCTACACTGGAATGGCAGCCTTAAGGCCATGAGGGAACGACAATGCTCTCGGCAGGTAAGAGATTTTATGAGTGGGGGCGAATGAGGGGAGCACAA mutant NA NA NA NA NA 323 491 1 1 1 NA NA 1 0.9968518 NA NA 0 0.003148222 NA 0.9984259 NA 0.001574111 NA FALSE NA 0 0.164 . intron_variant&non_coding_transcript_variant MODIFIER RP11-315I20.1 Clone_based_vega_gene NA ENST00000448561 2/2 1 NA TGA G,A 8.236e-06 1:145936877 LIX1L-AS1 HGNC Symbol antisense 32589 ENSG00000234222 NA intron_variant 0.029691 0.16227 0.03845 0.099367 0.3973858 0.0572707 NA NA 1.2198e-05 ENSE00001006072_006 ENSE00001006072 006 4 88580298 88580467 + 74 33 63 T G 88580353 923 56 TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCGTCCTTTCCTTTTTTGCAGGGTCATTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT 87659145 87659315 87659200 87659201 87659201 upstr_intron -19 -0.2432432 TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCGTCCTTTCCTTTTTTGCAGGGTCATTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCATTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT mutant NA NA NA NA NA 41 85 0.95 0.9082715 0.9291357 NA NA 0.8843013 0.9887543 NA NA 0.06569868 -0.08048288 NA 0.9365278 NA -0.007392098 NA FALSE NA 0.009 1.449 . intron_variant&non_coding_transcript_variant MODIFIER RP11-742B18.1 Clone_based_vega_gene NA ENST00000506814 1/2 rs550592486 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CTT T,G 8.236e-06 4:87659201 AC093895.1 Clone-based (Ensembl) gene antisense 165921 ENSG00000249001 ENSE00001006072 intron_variant 0.790644 0.25531 0.06385 0.108992 0.7158943 0.721828 NA NA 4.06243e-06 ENSE00001006072_009 ENSE00001006072 009 4 88580298 88580467 + 74 33 63 T C 88580377 926 80 TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCACTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT 87659145 87659315 87659224 87659225 87659225 exon 6 0.1818182 TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCACTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCATTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT mutant NA NA NA NA NA 29 196 1 0.9798809 0.9899404 NA NA 0.8843013 0.9887543 NA NA 0.1156987 -0.008873449 NA 0.9365278 NA 0.05341262 NA FALSE NA 0 -0.52 . intron_variant&non_coding_transcript_variant MODIFIER RP11-742B18.1 Clone_based_vega_gene NA ENST00000506814 1/2 1 NA ATT T,C 8.237e-06 4:87659225 AC093895.1 Clone-based (Ensembl) gene antisense 165921 ENSG00000249001 ENSE00001006072 synonymous_variant -1.425433 0.14159 0.01242 0.553676 0.6691042 0 NA NA 4.06217e-06 ENSE00001008748_003 ENSE00001008748 003 2 135655870 135656039 + 41 99 30 T C 135655898 2790 29 AAGAAAGCCGTGAAGTAAAAGACATTATACCTTTGTTTCTTCATCAAATTCTTCCATGGACTCTATTAGTTTCCCAGGTTCCAGCTCACCTAGTGGAAAGGGGTAATCGGTTCCCAAAATGACTTTATCCTAAAAAACAAAGTATATATTTCTCTGTTGTTTTGTAAAAC 134898299 134898469 134898327 134898328 134898328 upstr_intron -13 -0.2926829 GTTTTACAAAACAACAGAGAAATATATACTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 135 1038 0.9453355 0.9310639 0.9381997 NA NA 0.9367693 0.9896466 NA NA 0.008566216 -0.05858278 NA 0.963208 NA -0.02500828 NA FALSE NA 0.048 1.52 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 1 NA ATT T,C 8.24e-06 2:134898328 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 intron_variant -0.042462 0.93902 0.73567 0.088285 0.6259167 0.920641 NA NA 4.68134e-06 ENSE00001008748_004 ENSE00001008748 004 2 135655870 135656039 + 41 99 30 A T 135655909 2791 40 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTTGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT 134898299 134898469 134898338 134898339 134898339 upstr_intron -2 -0.02439024 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTTGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 293 1081 0.01476569 0 0.007382847 NA NA 0.9367693 0.9896466 NA NA -0.9220036 -0.9896466 NA 0.963208 NA -0.9558251 NA TRUE NA 1 7.942 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 1 NA TAG A,T 2.472e-05 2:134898339 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 splice_acceptor_variant 4.679401 0.95537 0.98146 0.088285 0.9953773 0.985031 NA NA NA ENSE00001008748_008 ENSE00001008748 008 2 135655870 135656039 + 41 99 30 T C 135655934 2795 65 AAGAAAGCCGTGAAGTAAAAGACATTATACCTTTGTTTCTTCATCAAATTCTTCCATGGACTCTATTAGTTTCCCAGGTTCCAGCTCACCTAGTGGAAAGGGGTAGTCGGTTCCCAAAATGACTTTATCCTAAAAAACAAAATATATATTTCTCTGTTGTTTTGTAAAAC 134898299 134898469 134898363 134898364 134898364 exon 24 0.2424242 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGACTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 95 15 0.9881638 1 0.9940819 NA NA 0.9367693 0.9896466 NA NA 0.05139457 0.01035336 NA 0.963208 NA 0.03087396 NA FALSE NA 1 1.193 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 rs368111388 1 NA C:0 C:0.0001 ATT T,C 1.647e-05 2:134898364 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 synonymous_variant -0.024868 0.91124 0.8369 0.55562 0.8639132 0 NA NA 4.26076e-06 ENSE00001008748_013 ENSE00001008748 013 2 135655870 135656039 + 41 99 30 A G 135655946 2800 77 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCGCTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT 134898299 134898469 134898375 134898376 134898376 exon 36 0.3636364 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCGCTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 233 552 0.9975007 1 0.9987504 NA NA 0.9367693 0.9896466 NA NA 0.06073142 0.01035336 NA 0.963208 NA 0.03554239 NA FALSE NA 1 1.893 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 1 NA CAC A,G 1.647e-05 2:134898376 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 synonymous_variant 0.27549 0.90359 0.84039 0.55562 0.8238771 0 NA NA 1.2542e-05 ENSE00001008748_021 ENSE00001008748 021 2 135655870 135656039 + 41 99 30 T A 135655997 2808 128 AAGAAAGCCGTGAAGTAAAAGACATTATACCTTTGTTTCTTCTTCAAATTCTTCCATGGACTCTATTAGTTTCCCAGGTTCCAGCTCACCTAGTGGAAAGGGGTAATCGGTTCCCAAAATGACTTTATCCTAAAAAACAAAATATATATTTCTCTGTTGTTTTGTAAAAC 134898299 134898469 134898426 134898427 134898427 exon -13 0.8787879 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGAAGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 19 1104 1 1 1 NA NA 0.9367693 0.9896466 NA NA 0.06323072 0.01035336 NA 0.963208 NA 0.03679204 NA FALSE NA 1 0.777 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 1 NA ATG T,A 1.648e-05 2:134898427 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 missense_variant 3.57336 0.95879 0.90382 0.525926 0.9881011 0 NA NA 8.5615e-06 ENSE00001008748_022 ENSE00001008748 022 2 135655870 135656039 + 41 99 30 G A 135656010 2809 141 AAGAAAGCCGTGAAGTAAAAGACATTATATCTTTGTTTCTTCATCAAATTCTTCCATGGACTCTATTAGTTTCCCAGGTTCCAGCTCACCTAGTGGAAAGGGGTAATCGGTTCCCAAAATGACTTTATCCTAAAAAACAAAATATATATTTCTCTGTTGTTTTGTAAAAC 134898299 134898469 134898439 134898440 134898440 downstr_intron 1 1.034483 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGATATAATGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 35 477 0 0 0 NA NA 0.9367693 0.9896466 NA NA -0.9367693 -0.9896466 NA 0.963208 NA -0.963208 NA TRUE NA 1 8.392 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 rs369586948 1 NA A:0 A:0.0001 GGT G,A 8.24e-06 2:134898440 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 splice_donor_variant 5.816261 0.96622 0.97305 0.055872 0.9956413 0.986312 NA NA NA ENSE00001008748_024 ENSE00001008748 024 2 135655870 135656039 + 41 99 30 T C 135656016 2811 147 AAGAAAGCCGTGAAGTAAAAGACGTTATACCTTTGTTTCTTCATCAAATTCTTCCATGGACTCTATTAGTTTCCCAGGTTCCAGCTCACCTAGTGGAAAGGGGTAATCGGTTCCCAAAATGACTTTATCCTAAAAAACAAAATATATATTTCTCTGTTGTTTTGTAAAAC 134898299 134898469 134898445 134898446 134898446 downstr_intron 7 1.241379 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAACGTCTTTTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 73 207 1 0.9928911 0.9964455 NA NA 0.9367693 0.9896466 NA NA 0.06323072 0.003244445 NA 0.963208 NA 0.03323758 NA FALSE NA 0 2.148 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 1 NA ATG T,C 1.648e-05 2:134898446 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 splice_region_variant 1.003763 0.4803 0.49483 0.074636 0.844326 0.957351 NA NA 2.31793e-05 ENSE00001008748_025 ENSE00001008748 025 2 135655870 135656039 + 41 99 30 T C 135656022 2812 153 AAGAAAGCCGTGAAGTAGAAGACATTATACCTTTGTTTCTTCATCAAATTCTTCCATGGACTCTATTAGTTTCCCAGGTTCCAGCTCACCTAGTGGAAAGGGGTAATCGGTTCCCAAAATGACTTTATCCTAAAAAACAAAATATATATTTCTCTGTTGTTTTGTAAAAC 134898299 134898469 134898451 134898452 134898452 downstr_intron 13 1.448276 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTCTACTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 30 328 1 0.9984772 0.9992386 NA NA 0.9367693 0.9896466 NA NA 0.06323072 0.0088306 NA 0.963208 NA 0.03603066 NA FALSE NA 1 1.149 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 1 NA TTT T,C 1.648e-05 2:134898452 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 intron_variant 0.14969 0.17149 0.36941 0.074636 0.5947593 0.166366 NA NA 1.90818e-05 ENSE00001008748_026 ENSE00001008748 026 2 135655870 135656039 + 41 99 30 C T 135656025 2813 156 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTATTTCACGGCTTTCTT 134898299 134898469 134898454 134898455 134898455 downstr_intron 16 1.551724 GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTATTTCACGGCTTTCTT GTTTTACAAAACAACAGAGAAATATATATTTTGTTTTTTAGGATAAAGTCATTTTGGGAACCGATTACCCCTTTCCACTAGGTGAGCTGGAACCTGGGAAACTAATAGAGTCCATGGAAGAATTTGATGAAGAAACAAAGGTATAATGTCTTTTACTTCACGGCTTTCTT mutant NA NA NA NA NA 577 54 0.9989252 1 0.9994626 NA NA 0.9367693 0.9896466 NA NA 0.06215594 0.01035336 NA 0.963208 NA 0.03625465 NA FALSE NA 0 -0.501 . intron_variant&non_coding_transcript_variant MODIFIER CCNT2-AS1 HGNC 40130 ENST00000413962 1/2 rs374242207 1 NA ACT C,T 8.243e-05 2:134898455 CCNT2-AS1 HGNC Symbol antisense 183246 ENSG00000224043 ENSE00001008748 intron_variant 0.07707 0.14111 0.0459 0.074636 0.5792567 0.166366 NA NA 8.31109e-05 ENSE00001018977_001 ENSE00001018977 001 8 86356219 86356388 + 44 93 33 A G 86356230 1551 12 ATATTCCAGGAGTTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444000 85444001 85444001 upstr_intron -33 -0.7272727 ATATTCCAGGAGTTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 435 1962 1 0.9986675 0.9993337 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05268764 0.07347306 0.9925572 0.9362534 NA 0.06308035 NA FALSE NA 0 -1.743 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA AAT A,G 8.236e-06 8:85444001 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 intron_variant 1.884025 0.1893 0.02949 0.053691 0.8249906 0.153832 4.688138e-05 FALSE 4.06478e-06 ENSE00001018977_002 ENSE00001018977 002 8 86356219 86356388 + 44 93 33 C G 86356244 1552 26 ATATTCCAGGAATTTACCTTCTAATGTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444014 85444015 85444015 upstr_intron -19 -0.4090909 ATATTCCAGGAATTTACCTTCTAATGTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 550 1220 1 1 1 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05268764 0.07480559 0.9925572 0.9362534 NA 0.06374662 NA FALSE NA 0 -0.171 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA TCT C,G 8.236e-06 8:85444015 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 intron_variant 0.879735 0.26831 0.06738 0.053691 0.6821009 0.153832 4.688138e-05 FALSE 4.06607e-06 ENSE00001018977_003 ENSE00001018977 003 8 86356219 86356388 + 44 93 33 C G 86356248 1553 30 ATATTCCAGGAATTTACCTTCTAATCTGTGTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444018 85444019 85444019 upstr_intron -15 -0.3181818 ATATTCCAGGAATTTACCTTCTAATCTGTGTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 4039 1277 0.9964167 0.9324242 0.9644205 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.04910437 0.007229789 0.9925572 0.9362534 NA 0.02816708 NA FALSE NA 0 -0.644 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA TCT C,G 1.647e-05 8:85444019 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 intron_variant 1.13779 0.1777 0.00681 0.053691 0.6584333 0.153832 4.688138e-05 FALSE 2.43784e-05 ENSE00001018977_004 ENSE00001018977 004 8 86356219 86356388 + 44 93 33 T C 86356249 1554 31 ATATTCCAGGAATTTACCTTCTAATCTGTCCTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444019 85444020 85444020 upstr_intron -14 -0.2954545 ATATTCCAGGAATTTACCTTCTAATCTGTCCTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 1467 258 0.9990786 0.9889686 0.9940236 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05176629 0.06377415 0.9925572 0.9362534 NA 0.05777022 NA FALSE NA 0 0.05 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA CTT T,C 2.471e-05 8:85444020 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 intron_variant 1.008457 0.26393 0.06046 0.053691 0.6657912 0.216885 4.688138e-05 FALSE 3.25021e-05 ENSE00001018977_005 ENSE00001018977 005 8 86356219 86356388 + 44 93 33 G C 86356256 1555 38 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGCTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444026 85444027 85444027 upstr_intron -7 -0.1363636 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGCTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 593 272 0.999204 1 0.999602 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05189165 0.07480559 0.9925572 0.9362534 NA 0.06334862 NA FALSE NA 0.003 -1.777 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA GGT G,C 1.647e-05 8:85444027 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 splice_region_variant 0.775217 0.21499 0.02089 0.053691 0.633643 0.392945 4.688138e-05 FALSE 8.12407e-06 ENSE00001018977_007 ENSE00001018977 007 8 86356219 86356388 + 44 93 33 A C 86356281 1557 63 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGCACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444051 85444052 85444052 exon 19 0.2043011 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGCACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 239 269 0.9777678 1 0.9888839 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.03045543 0.07480559 0.9925572 0.9362534 NA 0.05263051 NA FALSE NA 1 6.186 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA GAA A,C 8.236e-06 8:85444052 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 missense_variant 5.901491 0.96977 0.94093 0.615465 0.9948877 0 4.688138e-05 FALSE 4.06187e-06 ENSE00001018977_008 ENSE00001018977 008 8 86356219 86356388 + 44 93 33 G C 86356289 1558 71 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAACTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444059 85444060 85444060 exon 27 0.2903226 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAACTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 287 483 0.9950203 0.9996724 0.9973464 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.04770796 0.07447801 0.9925572 0.9362534 NA 0.06109299 NA FALSE NA 1 0.606 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 rs372600033 1 NA C:0 C:0.0001 AGT G,C 8.236e-06 8:85444060 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 missense_variant 5.717353 0.92339 0.80368 0.554377 0.9985393 0 4.688138e-05 FALSE 3.24918e-05 ENSE00001018977_011 ENSE00001018977 011 8 86356219 86356388 + 44 93 33 G A 86356323 1561 105 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCAATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444093 85444094 85444094 exon -33 0.655914 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCAATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 428 1304 1 0.9868845 0.9934423 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05268764 0.0616901 0.9925572 0.9362534 NA 0.05718887 NA FALSE NA 1 8.517 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 rs557237110&COSM3651405&COSM751597 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CGA G,A 3.295e-05 8:85444094 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 missense_variant 5.845848 0.97533 0.96205 0.554377 0.9991021 0 4.688138e-05 FALSE 1.62481e-05 ENSE00001018977_012 ENSE00001018977 012 8 86356219 86356388 + 44 93 33 T C 86356325 1562 107 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGACGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444095 85444096 85444096 exon -31 0.6774194 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGACGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 1749 3395 0.9996465 0.997576 0.9986113 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05233416 0.07238162 0.9925572 0.9362534 NA 0.06235789 NA FALSE NA 1 1.186 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA ATG T,C 8.236e-06 8:85444096 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 synonymous_variant 0.333829 0.92697 0.78257 0.554377 0.6948871 0 4.688138e-05 FALSE 1.62473e-05 ENSE00001018977_013 ENSE00001018977 013 8 86356219 86356388 + 44 93 33 G T 86356332 1563 114 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCTCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444102 85444103 85444103 exon -24 0.7526882 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCTCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 709 273 0.9923938 0.9894469 0.9909203 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.0450814 0.06425249 0.9925572 0.9362534 NA 0.05466694 NA FALSE NA 1 5.548 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA CGC G,T 8.236e-06 8:85444103 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 missense_variant 6.762134 0.9758 0.94377 0.554377 0.9981588 0 4.688138e-05 FALSE 4.06329e-06 ENSE00001018977_014 ENSE00001018977 014 8 86356219 86356388 + 44 93 33 T C 86356339 1564 121 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGACTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444109 85444110 85444110 exon -17 0.827957 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGACTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 1199 757 0.9988271 0.9995819 0.9992045 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05151478 0.07438752 0.9925572 0.9362534 NA 0.06295115 NA FALSE NA 1 6.962 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 rs374710695 1 NA C:0.0005 C:0 ATT T,C 0.0001153 8:85444110 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 missense_variant 4.410354 0.96833 0.94071 0.554377 0.993519 0 4.688138e-05 FALSE 0.000117841 ENSE00001018977_015 ENSE00001018977 015 8 86356219 86356388 + 44 93 33 T G 86356347 1565 129 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTGTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444117 85444118 85444118 exon -9 0.9139785 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTGTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 3323 926 0.9617754 0.8756819 0.9187286 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.014463 -0.0495125 0.9925572 0.9362534 NA -0.01752475 NA FALSE NA 1 6.962 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 rs201933352 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 TTT T,G 8.237e-06 8:85444118 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 missense_variant 6.562528 0.96893 0.94938 0.554377 0.9921816 0 4.688138e-05 FALSE 4.06484e-06 ENSE00001018977_017 ENSE00001018977 017 8 86356219 86356388 + 44 93 33 A G 86356358 1567 140 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTGAAGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444128 85444129 85444129 downstr_intron 3 1.09375 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTGAAGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 1696 1064 0.9979153 0.8074581 0.9026867 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05060293 -0.1177363 0.9925572 0.9362534 NA -0.0335667 NA FALSE NA 0.785 0.115 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA TAA A,G 8.236e-06 8:85444129 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 splice_region_variant 0.454712 0.22248 0.25276 0.053691 0.5224265 0.354411 4.688138e-05 FALSE 4.07375e-06 ENSE00001018977_018 ENSE00001018977 018 8 86356219 86356388 + 44 93 33 A G 86356360 1568 142 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAGGTAAAAATTGACTATATATTTTCTTCCA 85443989 85444159 85444130 85444131 85444131 downstr_intron 5 1.15625 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAGGTAAAAATTGACTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 456 504 0.9992758 0.9979348 0.9986053 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05196341 0.07274042 0.9925572 0.9362534 NA 0.06235191 NA FALSE NA 0.859 0.162 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA AAG A,G 1.647e-05 8:85444131 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 splice_region_variant -0.150065 0.21383 0.05771 0.053691 0.6126576 0.211434 4.688138e-05 FALSE 1.63066e-05 ENSE00001018977_019 ENSE00001018977 019 8 86356219 86356388 + 44 93 33 C T 86356372 1569 154 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGATTATATATTTTCTTCCA 85443989 85444159 85444142 85444143 85444143 downstr_intron 17 1.53125 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGATTATATATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 1814 456 0.9986611 1 0.9993306 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05134877 0.07480559 0.9925572 0.9362534 NA 0.06307718 NA FALSE NA 0 -3.209 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 rs369965636 1 NA T:0 T:0.0001 ACT C,T 8.237e-06 8:85444143 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 intron_variant 0.173399 0.22741 0.07336 0.053691 0.5387686 0.0606695 4.688138e-05 FALSE NA ENSE00001018977_020 ENSE00001018977 020 8 86356219 86356388 + 44 93 33 A T 86356376 1570 158 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATTTATTTTCTTCCA 85443989 85444159 85444146 85444147 85444147 downstr_intron 21 1.65625 ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATTTATTTTCTTCCA ATATTCCAGGAATTTACCTTCTAATCTGTCTTCTATGGTTTCAGCTTCATTTGGTTCACTGGAACCCGAAGTATAACACTTTTAAAGAAGCCCTGAAGCAGCGCGATGGGATCGCTGTGATTGGCATTTTTCTGAAGGTAAAGTAAAAATTGACTATATATTTTCTTCCA mutant NA NA NA NA NA 445 1570 1 0.999875 0.9999375 0.9946018 0.9905125 0.9473124 0.9251944 NA NA 0.05268764 0.07468058 0.9925572 0.9362534 NA 0.06368411 NA FALSE NA 0 -0.334 . downstream_gene_variant MODIFIER CA3 HGNC 1374 ENST00000520921 1 NA TAT A,T 8.238e-06 8:85444147 CA3 HGNC Symbol protein_coding 75604 ENSG00000164879 ENSE00001018977 intron_variant -0.345668 0.20772 0.10795 0.053691 0.4697401 0.0460988 4.688138e-05 FALSE 1.66259e-05 ENSE00001033448_001 ENSE00001033448 001 11 44948177 44948346 + 48 84 38 C T 44948188 1111 12 GGACTCTCAACTCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926636 44926637 44926637 upstr_intron -37 -0.75 GGACTCTCAACTCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 74 63 0.916665 0.9841727 0.9504188 69 982 0.9647205 0.9954661 0.9800933 0.9909388 0.9896436 0.9211231 0.8385314 -0.0742738 -0.0054709 0.04359734 0.1569347 0.9902912 0.8798273 -0.03987235 0.100266 0.1401384 FALSE FALSE 0 -0.343 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 3/4 1 NA CCC C,T 8.236e-06 11:44926637 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 non_coding_transcript_exon_variant -0.001684 0.37139 0.07799 0.162113 0.4113263 0.046875 0.1618604 FALSE NA ENSE00001033448_002 ENSE00001033448 002 11 44948177 44948346 + 48 84 38 C A 44948189 1112 13 GGACTCTCAACCATGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926637 44926638 44926638 upstr_intron -36 -0.7291667 GGACTCTCAACCATGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 10 15 1 0.9714646 0.9857323 171 233 1 0.9998365 0.9999182 0.9909388 0.9896436 0.9211231 0.8385314 0.009061206 -0.01817899 0.07887686 0.1613051 0.9902912 0.8798273 -0.004558893 0.120091 0.1246499 FALSE FALSE 0.001 2.447 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 3/4 1 NA CCT C,A 3.295e-05 11:44926638 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 non_coding_transcript_exon_variant 0.136183 0.39118 0.33338 0.162113 0.5691293 0.046875 0.1618604 FALSE 2.03827e-05 ENSE00001033448_005 ENSE00001033448 005 11 44948177 44948346 + 48 84 38 C G 44948205 1115 29 GGACTCTCAACCCTGGCCATAGCTTGACGTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926653 44926654 44926654 upstr_intron -20 -0.3958333 GGACTCTCAACCCTGGCCATAGCTTGACGTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 40 134 0.9240125 0.8252924 0.8746524 727 423 0.8306998 0.9315814 0.8811406 0.9909388 0.9896436 0.9211231 0.8385314 -0.06692632 -0.1643512 -0.09042332 0.09304997 0.9902912 0.8798273 -0.1156387 0.001313327 0.1169521 FALSE FALSE 0.403 0.861 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 3/4 rs368406000 1 NA G:0 G:0.0001 CCT C,G 8.236e-06 11:44926654 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 non_coding_transcript_exon_variant 0.424218 0.92377 0.43168 0.262962 0.5941319 0.502609 0.1618604 FALSE 4.06865e-06 ENSE00001033448_007 ENSE00001033448 007 11 44948177 44948346 + 48 84 38 C T 44948235 1117 59 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACATGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926683 44926684 44926684 exon 11 0.1309524 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACATGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 11 15 0.9857923 0.9957031 0.9907477 1428 385 0.9648597 0.9928066 0.9788332 0.9909388 0.9896436 0.9211231 0.8385314 -0.005146526 0.00605956 0.04373656 0.1542753 0.9902912 0.8798273 0.0004565171 0.09900591 0.09854939 FALSE FALSE 1 6.909 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA ACG C,T 5.765e-05 11:44926684 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 4.796423 0.97855 0.973 0.743674 0.9822676 0 0.1618604 FALSE 6.49852e-05 ENSE00001033448_010 ENSE00001033448 010 11 44948177 44948346 + 48 84 38 C A 44948242 1120 66 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATACTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926690 44926691 44926691 exon 18 0.2142857 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATACTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 16 37 0.9641324 0.9857644 0.9749484 115 1335 0.9727532 0.9144942 0.9436237 0.9909388 0.9896436 0.9211231 0.8385314 -0.02680637 -0.003879205 0.05163011 0.07596281 0.9902912 0.8798273 -0.01534279 0.06379646 0.07913925 FALSE FALSE 0.962 -0.007 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA TCC C,A 1.647e-05 11:44926691 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 1.902692 0.93708 0.70063 0.743674 0.7403887 0 0.1618604 FALSE 8.12209e-06 ENSE00001033448_011 ENSE00001033448 011 11 44948177 44948346 + 48 84 38 A T 44948246 1121 70 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCTACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926694 44926695 44926695 exon 22 0.2619048 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCTACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 93 30 0.8844566 0.9067667 0.8956117 711 418 0.9943263 0.986813 0.9905696 0.9909388 0.9896436 0.9211231 0.8385314 -0.1064822 -0.08287686 0.07320317 0.1482816 0.9902912 0.8798273 -0.09467951 0.1107424 0.2054219 FALSE FALSE 1 6.471 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA CAA A,T 1.647e-05 11:44926695 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 4.784068 0.96493 0.94745 0.743674 0.9755053 0 0.1618604 FALSE 8.1217e-06 ENSE00001033448_012 ENSE00001033448 012 11 44948177 44948346 + 48 84 38 C G 44948251 1122 75 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACGTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926699 44926700 44926700 exon 27 0.3214286 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACGTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant NA NA NA NA NA 1123 547 0.9988214 1 0.9994107 0.9909388 0.9896436 0.9211231 0.8385314 NA NA 0.07769825 0.1614686 0.9902912 0.8798273 NA 0.1195834 NA FALSE NA 1 4.165 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA CCT C,G 8.236e-06 11:44926700 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 0.78633 0.96986 0.94287 0.743674 0.7285037 0 0.1618604 FALSE NA ENSE00001033448_013 ENSE00001033448 013 11 44948177 44948346 + 48 84 38 G A 44948255 1123 79 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCAAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926703 44926704 44926704 exon 31 0.3690476 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCAAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 23 16 1 1 1 915 398 0.9010553 0.9947143 0.9478848 0.9909388 0.9896436 0.9211231 0.8385314 0.009061206 0.01035643 -0.02006779 0.1561829 0.9902912 0.8798273 0.00970882 0.06805754 0.05834872 FALSE FALSE 1 8.722 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 COSM1230709 1 NA CGA G,A 1.647e-05 11:44926704 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 4.354199 0.97903 0.98037 0.743674 0.99268 0 0.1618604 FALSE 1.21827e-05 ENSE00001033448_014 ENSE00001033448 014 11 44948177 44948346 + 48 84 38 C T 44948263 1124 87 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTATGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926711 44926712 44926712 exon 39 0.4642857 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTATGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 343 359 0.8561857 0.85 0.8530929 NA NA NA NA NA 0.9909388 0.9896436 0.9211231 0.8385314 -0.1347531 -0.1396436 NA NA 0.9902912 0.8798273 -0.1371983 NA NA NA FALSE 0.149 0.06 rs34695714 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 rs34695714 1 T:0.0258 T:0.0953 T:0.0043 NA T:0 T:0 T:0 T:0.0726 T:0.0002 ACG C,T 0.006787 11:44926712 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 1.188283 0.90385 0.47145 0.743674 0.7817802 0 0.1618604 FALSE 0.00500313 ENSE00001033448_016 ENSE00001033448 016 11 44948177 44948346 + 48 84 38 A C 44948268 1126 92 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTCCTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926716 44926717 44926717 exon -41 0.5238095 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTCCTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 94 203 0.85 0.8692108 0.8596054 1198 1347 0.9820279 0.9625523 0.9722901 0.9909388 0.9896436 0.9211231 0.8385314 -0.1409388 -0.1204328 0.06090478 0.1240209 0.9902912 0.8798273 -0.1306858 0.09246283 0.2231486 FALSE FALSE 1 8.326 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA TAC A,C 8.236e-06 11:44926717 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 3.489514 0.9613 0.96283 0.743674 0.9824879 0 0.1618604 FALSE 4.06108e-06 ENSE00001033448_017 ENSE00001033448 017 11 44948177 44948346 + 48 84 38 C T 44948275 1127 99 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCTGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926723 44926724 44926724 exon -34 0.6071429 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCTGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 139 111 0.8555877 0.9764371 0.9160124 221 281 0.9988773 0.9991832 0.9990303 0.9909388 0.9896436 0.9211231 0.8385314 -0.1353511 -0.01320648 0.07775419 0.1606519 0.9902912 0.8798273 -0.0742788 0.119203 0.1934818 FALSE FALSE 0 -2.274 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 rs559073164 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 4.942e-05 11:44926724 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 2.158724 0.76504 0.05428 0.743674 0.846396 0 0.1618604 FALSE 3.24889e-05 ENSE00001033448_018 ENSE00001033448 018 11 44948177 44948346 + 48 84 38 G A 44948276 1128 100 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCAGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926724 44926725 44926725 exon -33 0.6190476 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCAGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 105 41 0.784707 0.9405131 0.86261 NA NA NA NA NA 0.9909388 0.9896436 0.9211231 0.8385314 -0.2062318 -0.0491305 NA NA 0.9902912 0.8798273 -0.1276811 NA NA NA FALSE 1 8.8 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 rs577384711 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGG G,A 6.589e-05 11:44926725 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 6.573723 0.96658 0.9587 0.743674 0.9991515 0 0.1618604 FALSE 6.09172e-05 ENSE00001033448_019 ENSE00001033448 019 11 44948177 44948346 + 48 84 38 G A 44948277 1129 101 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGAAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926725 44926726 44926726 exon -32 0.6309524 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGAAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant NA NA NA NA NA 283 416 0.8330412 0.8851627 0.859102 0.9909388 0.9896436 0.9211231 0.8385314 NA NA -0.08808191 0.04663136 0.9902912 0.8798273 NA -0.02072527 NA FALSE NA 1 8.8 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA GGA G,A 8.236e-06 11:44926726 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 4.689048 0.96658 0.9587 0.743674 0.9967789 0 0.1618604 FALSE 1.21832e-05 ENSE00001033448_020 ENSE00001033448 020 11 44948177 44948346 + 48 84 38 T C 44948283 1130 107 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCCTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926731 44926732 44926732 exon -26 0.702381 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCCTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 42 36 0.9399026 0.9188192 0.9293609 NA NA NA NA NA 0.9909388 0.9896436 0.9211231 0.8385314 -0.05103623 -0.07082437 NA NA 0.9902912 0.8798273 -0.0609303 NA NA NA FALSE 1 7.163 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA CTT T,C 4.118e-05 11:44926732 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 5.421947 0.95916 0.94436 0.743674 0.9988575 0 0.1618604 FALSE 1.62443e-05 ENSE00001033448_021 ENSE00001033448 021 11 44948177 44948346 + 48 84 38 C T 44948287 1131 111 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCTATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926735 44926736 44926736 exon -22 0.75 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCTATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 23 33 0.969363 0.9833115 0.9763372 NA NA NA NA NA 0.9909388 0.9896436 0.9211231 0.8385314 -0.02157584 -0.00633211 NA NA 0.9902912 0.8798273 -0.01395398 NA NA NA FALSE 0.991 0.432 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA CCA C,T 8.236e-06 11:44926736 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 1.601281 0.90588 0.69381 0.743674 0.8033597 0 0.1618604 FALSE 4.06114e-06 ENSE00001033448_022 ENSE00001033448 022 11 44948177 44948346 + 48 84 38 C T 44948290 1132 114 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATTGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926738 44926739 44926739 exon -19 0.7857143 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATTGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 14 12 1 0.9951093 0.9975547 1577 528 0.9555205 0.9959346 0.9757276 0.9909388 0.9896436 0.9211231 0.8385314 0.009061206 0.005465735 0.0343974 0.1574032 0.9902912 0.8798273 0.007263471 0.09590032 0.08863684 FALSE FALSE 0.002 -0.524 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 COSM927013 1 NA TCG C,T 8.236e-06 11:44926739 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 2.072138 0.71801 0.07708 0.743674 0.8866939 0 0.1618604 FALSE 8.12288e-06 ENSE00001033448_025 ENSE00001033448 025 11 44948177 44948346 + 48 84 38 G T 44948293 1135 117 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGTGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926741 44926742 44926742 exon -16 0.8214286 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGTGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 32 23 0.9991662 0.987909 0.9935376 1374 1060 0.9880547 0.9831168 0.9855857 0.9909388 0.9896436 0.9211231 0.8385314 0.008227376 -0.00173459 0.06693155 0.1445854 0.9902912 0.8798273 0.003246393 0.1057585 0.1025121 FALSE FALSE 0.98 -0.043 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA GGG G,T 1.647e-05 11:44926742 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 0.437527 0.89214 0.66915 0.743674 0.8012558 0 0.1618604 FALSE 1.21846e-05 ENSE00001033448_026 ENSE00001033448 026 11 44948177 44948346 + 48 84 38 C T 44948301 1136 125 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGTCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926749 44926750 44926750 exon -8 0.9166667 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGTCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 11 16 0.9991938 0.99377 0.9964819 1054 584 0.997747 0.9944601 0.9961036 0.9909388 0.9896436 0.9211231 0.8385314 0.008255021 0.004126429 0.07662388 0.1559287 0.9902912 0.8798273 0.006190725 0.1162763 0.1100856 FALSE FALSE 1 6.968 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA GCC C,T 8.236e-06 11:44926750 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 2.06782 0.9699 0.95512 0.743674 0.9756542 0 0.1618604 FALSE 8.12308e-06 ENSE00001033448_027 ENSE00001033448 027 11 44948177 44948346 + 48 84 38 C T 44948302 1137 126 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCTATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926750 44926751 44926751 exon -7 0.9285714 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCTATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 13 18 1 0.9997032 0.9998516 1725 247 0.9939751 1 0.9969875 0.9909388 0.9896436 0.9211231 0.8385314 0.009061206 0.01005964 0.07285195 0.1614686 0.9902912 0.8798273 0.009560422 0.1171603 0.1075999 FALSE FALSE 0.995 0.273 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 rs538258906 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCA C,T 8.236e-06 11:44926751 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 1.202666 0.90838 0.65552 0.743674 0.8743369 0 0.1618604 FALSE 4.06147e-06 ENSE00001033448_028 ENSE00001033448 028 11 44948177 44948346 + 48 84 38 C T 44948305 1138 129 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATTGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926753 44926754 44926754 exon -4 0.9642857 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATTGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 36 34 0.9764759 0.8981402 0.9373081 751 338 0.9987734 0.8732766 0.936025 0.9909388 0.9896436 0.9211231 0.8385314 -0.01446285 -0.09150337 0.0776503 0.0347452 0.9902912 0.8798273 -0.05298311 0.05619775 0.1091809 FALSE FALSE 0.078 -0.812 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA TCG C,T 2.471e-05 11:44926754 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant 1.890342 0.81421 0.0614 0.743674 0.8949935 0 0.1618604 FALSE 1.62472e-05 ENSE00001033448_029 ENSE00001033448 029 11 44948177 44948346 + 48 84 38 G A 44948306 1139 130 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCAAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926754 44926755 44926755 exon -3 0.9761905 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCAAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant NA NA NA NA NA 1415 168 0.9921334 0.9948427 0.9934881 0.9909388 0.9896436 0.9211231 0.8385314 NA NA 0.07101027 0.1563113 0.9902912 0.8798273 NA 0.1136608 NA FALSE NA 1 8.8 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW TSPAN18 HGNC 20660 ENST00000520245 4/5 1 NA CGA G,A 2.471e-05 11:44926755 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 6.710055 0.97503 0.96619 0.743674 0.9991563 0 0.1618604 FALSE 1.21859e-05 ENSE00001033448_030 ENSE00001033448 030 11 44948177 44948346 + 48 84 38 G A 44948309 1140 133 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGATAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926757 44926758 44926758 downstr_intron 1 1.027027 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGATAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 574 667 0.01596751 0.007820531 0.01189402 1376 1021 0.001310809 0.001619666 0.001465237 0.9909388 0.9896436 0.9211231 0.8385314 -0.9749713 -0.981823 -0.9198123 -0.8369117 0.9902912 0.8798273 -0.9783972 -0.878362 0.1000351 TRUE TRUE 1 8.8 . splice_donor_variant&non_coding_transcript_variant HIGH TSPAN18 HGNC 20660 ENST00000520245 4/4 rs371719076 1 NA A:0.0002 A:0 GGT G,A 8.236e-06 11:44926758 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 splice_donor_variant 4.398356 0.97503 0.96619 0.262962 0.9935382 0.944926 0.1618604 FALSE 8.12493e-06 ENSE00001033448_031 ENSE00001033448 031 11 44948177 44948346 + 48 84 38 A G 44948315 1141 139 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTGAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926763 44926764 44926764 downstr_intron 7 1.189189 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTGAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 15 10 1 0.9978642 0.9989321 1588 462 0.9975122 0.9967915 0.9971518 0.9909388 0.9896436 0.9211231 0.8385314 0.009061206 0.008220628 0.07638907 0.1582601 0.9902912 0.8798273 0.008640917 0.1173246 0.1086837 FALSE FALSE 0 -0.824 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TSPAN18 HGNC 20660 ENST00000520245 4/4 1 NA TAA A,G 8.236e-06 11:44926764 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 splice_region_variant 0.72141 0.21218 0.0264 0.078448 0.7549355 0.0566658 0.1618604 FALSE 4.06263e-06 ENSE00001033448_032 ENSE00001033448 032 11 44948177 44948346 + 48 84 38 G T 44948318 1142 142 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAATGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926766 44926767 44926767 downstr_intron 10 1.27027 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAATGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 24 20 0.979521 0.9997344 0.9896277 533 166 0.9991697 0.9938076 0.9964887 0.9909388 0.9896436 0.9211231 0.8385314 -0.01141783 0.01009082 0.0780466 0.1552763 0.9902912 0.8798273 -0.0006635044 0.1166614 0.1173249 FALSE FALSE 0 0.449 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/4 1 NA AGG G,T 8.236e-06 11:44926767 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 intron_variant 1.181901 0.58047 0.10903 0.078448 0.9172847 0.595361 0.1618604 FALSE 4.06349e-06 ENSE00001033448_033 ENSE00001033448 033 11 44948177 44948346 + 48 84 38 C T 44948321 1143 145 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCTCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926769 44926770 44926770 downstr_intron 13 1.351351 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCTCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant NA NA NA NA NA 587 535 0.988952 0.9864903 0.9877212 0.9909388 0.9896436 0.9211231 0.8385314 NA NA 0.0678289 0.1479589 0.9902912 0.8798273 NA 0.1078939 NA FALSE NA 0 1.446 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/4 1 NA CCC C,T 8.236e-06 11:44926770 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 intron_variant 1.337487 0.72458 0.2335 0.078448 0.9230426 0.09036 0.1618604 FALSE 8.12797e-06 ENSE00001033448_034 ENSE00001033448 034 11 44948177 44948346 + 48 84 38 C T 44948322 1144 146 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCTCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926770 44926771 44926771 downstr_intron 14 1.378378 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCTCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 14 10 0.9632745 0.9987467 0.9810106 331 393 0.9995016 0.9965371 0.9980193 0.9909388 0.9896436 0.9211231 0.8385314 -0.02766426 0.009103111 0.07837848 0.1580057 0.9902912 0.8798273 -0.009280574 0.1181921 0.1274727 FALSE FALSE 0.001 0.428 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/4 rs374986796 1 NA T:0 T:0.0001 CCC C,T 8.236e-06 11:44926771 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 intron_variant 0.61333 0.86313 0.16211 0.078448 0.8319902 0.09036 0.1618604 FALSE 2.03231e-05 ENSE00001033448_035 ENSE00001033448 035 11 44948177 44948346 + 48 84 38 C A 44948329 1145 153 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTATGCCGCTCCCCAGGATG 44926625 44926795 44926777 44926778 44926778 downstr_intron 21 1.567568 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTATGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 15 26 1 0.9813997 0.9906999 450 1841 0.99277 0.9979384 0.9953542 0.9909388 0.9896436 0.9211231 0.8385314 0.009061206 -0.008243843 0.07164689 0.159407 0.9902912 0.8798273 0.0004086814 0.115527 0.1151183 FALSE FALSE 0 0.096 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/4 1 NA TCT C,A 8.236e-06 11:44926778 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 intron_variant 0.482076 0.2793 0.10986 0.078448 0.88677 0.0490338 0.1618604 FALSE 4.06643e-06 ENSE00001033448_036 ENSE00001033448 036 11 44948177 44948346 + 48 84 38 C T 44948333 1146 157 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCTGCTCCCCAGGATG 44926625 44926795 44926781 44926782 44926782 downstr_intron 25 1.675676 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCTGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant NA NA NA NA NA 225 696 0.9977652 0.9997727 0.998769 0.9909388 0.9896436 0.9211231 0.8385314 NA NA 0.07664207 0.1612413 0.9902912 0.8798273 NA 0.1189417 NA FALSE NA 0 -2.148 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/4 1 NA CCG C,T 2.471e-05 11:44926782 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 intron_variant 0.353431 0.20639 0.00774 0.078448 0.8491997 0.0490338 0.1618604 FALSE 3.25476e-05 ENSE00001033448_037 ENSE00001033448 037 11 44948177 44948346 + 48 84 38 G A 44948334 1147 158 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCACTCCCCAGGATG 44926625 44926795 44926782 44926783 44926783 downstr_intron 26 1.702703 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCACTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant NA NA NA NA NA 780 246 0.9989932 0.998242 0.9986176 0.9909388 0.9896436 0.9211231 0.8385314 NA NA 0.07787007 0.1597106 0.9902912 0.8798273 NA 0.1187903 NA FALSE NA 0 -0.374 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 4/4 rs200794424 1 A:0.0004 A:0 A:0 NA A:0.001 A:0.001 A:0 A:0.0005 A:0.0001 CGC G,A 0.0002718 11:44926783 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 intron_variant 0.212978 0.25193 0.04435 0.078448 0.8570584 0.0490338 0.1618604 FALSE 0.000297118 ENSE00001040098_001 ENSE00001040098 001 8 24255137 24255306 + 59 63 48 A G 24255172 312 36 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACGATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA 24397623 24397793 24397658 24397659 24397659 upstr_intron -24 -0.3898305 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACGATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA mutant NA NA NA NA NA 311 221 0.9680994 1 0.9840497 NA NA 0.8779727 0.9962321 NA NA 0.09012672 0.003767855 NA 0.9371024 NA 0.04694729 NA FALSE NA 0 -0.503 . intron_variant MODIFIER ADAMDEC1 HGNC 16299 ENST00000256412 6/13 rs537426226 1 G:0.0006 G:0 G:0 NA G:0 G:0 G:0.0031 CAA A,G 1.648e-05 8:24397659 ADAMDEC1 HGNC Symbol protein_coding 21728 ENSG00000134028 ENSE00003689747 intron_variant 0.32035 0.14272 0.01899 0.074636 0.6689991 0.155319 1.761779e-09 FALSE 1.23953e-05 ENSE00001040098_006 ENSE00001040098 006 8 24255137 24255306 + 59 63 48 T C 24255184 317 48 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTACTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA 24397623 24397793 24397670 24397671 24397671 upstr_intron -12 -0.1864407 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTACTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA mutant NA NA NA NA NA 274 51 0.9564983 0.95 0.9532492 NA NA 0.8779727 0.9962321 NA NA 0.07852567 -0.04623214 NA 0.9371024 NA 0.01614676 NA FALSE NA 0.382 0.225 . intron_variant MODIFIER ADAMDEC1 HGNC 16299 ENST00000256412 6/13 1 NA ATT T,C 4.119e-05 8:24397671 ADAMDEC1 HGNC Symbol protein_coding 21728 ENSG00000134028 ENSE00003689747 intron_variant 1.57273 0.31666 0.02075 0.074636 0.8431165 0.236849 1.761779e-09 FALSE 2.45666e-05 ENSE00001040098_013 ENSE00001040098 013 8 24255137 24255306 + 59 63 48 A G 24255250 324 114 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATGATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA 24397623 24397793 24397736 24397737 24397737 exon -9 0.8730159 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATGATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA mutant NA NA NA NA NA 94 83 1 1 1 NA NA 0.8779727 0.9962321 NA NA 0.1220273 0.003767855 NA 0.9371024 NA 0.06289759 NA FALSE NA 1 2.898 . missense_variant MODERATE ADAMDEC1 HGNC 16299 ENST00000256412 7/14 1 deleterious(0) probably_damaging(0.932) NA TAA A,G 8.237e-06 8:24397737 ADAMDEC1 HGNC Symbol protein_coding 21728 ENSG00000134028 ENSE00003689747 missense_variant 6.057333 0.98625 0.90629 0.487112 0.997764 0 1.761779e-09 FALSE 4.09319e-06 ENSE00001040098_014 ENSE00001040098 014 8 24255137 24255306 + 59 63 48 G C 24255253 325 117 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATCCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA 24397623 24397793 24397739 24397740 24397740 exon -6 0.9206349 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATCCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA mutant NA NA NA NA NA 18 8150 0.8926424 0.9832239 0.9379331 NA NA 0.8779727 0.9962321 NA NA 0.0146697 -0.01300827 NA 0.9371024 NA 0.0008307143 NA FALSE NA 1 2.22 . missense_variant MODERATE ADAMDEC1 HGNC 16299 ENST00000256412 7/14 rs372769205 1 deleterious(0.01) probably_damaging(0.979) NA C:0.0002 C:0 TGC G,C 8.237e-06 8:24397740 ADAMDEC1 HGNC Symbol protein_coding 21728 ENSG00000134028 ENSE00003689747 missense_variant 4.630843 0.97565 0.85834 0.487112 0.9979431 0 1.761779e-09 FALSE 4.08827e-06 ENSE00001056160_001 ENSE00001056160 001 7 103003749 103003918 + 42 96 32 C T 103003759 2131 11 AAGCCTGTGATTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363311 103363312 103363312 upstr_intron -32 -0.7380952 AAGCCTGTGATTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 898 1046 0.9885123 0.9961864 0.9923494 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.006334599 0.04030992 0.9889364 0.9690271 NA 0.02332226 NA FALSE NA 0 -0.562 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 rs200258655 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 ACT C,T 0.0009472 7:103363312 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 intron_variant 0.462263 0.14384 0.06336 0.295142 0.4720272 0.0476527 0.001375555 FALSE 0.00109649 ENSE00001056160_002 ENSE00001056160 002 7 103003749 103003918 + 42 96 32 G A 103003761 2132 13 AAGCCTGTGACTATATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363313 103363314 103363314 upstr_intron -30 -0.6904762 AAGCCTGTGACTATATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 1088 2408 0.9792413 0.9942762 0.9867588 0.9853702 0.9925026 0.9821777 0.9558765 NA NA -0.002936379 0.03839972 0.9889364 0.9690271 NA 0.01773167 NA FALSE NA 0 -1.275 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA TGT G,A 8.236e-06 7:103363314 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 intron_variant 0.248383 0.08995 0.00563 0.295142 0.4167212 0.0476527 0.001375555 FALSE 4.07352e-06 ENSE00001056160_003 ENSE00001056160 003 7 103003749 103003918 + 42 96 32 C G 103003776 2133 28 AAGCCTGTGACTGTATGTTGTACATTTGTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363328 103363329 103363329 upstr_intron -15 -0.3333333 AAGCCTGTGACTGTATGTTGTACATTTGTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 466 821 0.9981305 0.9994885 0.9988095 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.01595285 0.04361198 0.9889364 0.9690271 NA 0.02978241 NA FALSE NA 0.002 0.479 rs74993698 intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 rs74993698 1 G:0.0363 G:0.0015 G:0.0331 NA G:0.0853 G:0.003 G:0.0695 G:0.0048 G:0.0056 TCT C,G 0.023 7:103363329 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 intron_variant 1.764828 0.28281 0.16866 0.295142 0.8621477 0.122279 0.001375555 FALSE 0.0235097 ENSE00001056160_004 ENSE00001056160 004 7 103003749 103003918 + 42 96 32 G A 103003778 2134 30 AAGCCTGTGACTGTATGTTGTACATTTCTATCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363330 103363331 103363331 upstr_intron -13 -0.2857143 AAGCCTGTGACTGTATGTTGTACATTTCTATCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 156 212 1 1 1 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.0178223 0.04412351 0.9889364 0.9690271 NA 0.0309729 NA FALSE NA 0 -2.775 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA TGT G,A 8.236e-06 7:103363331 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 intron_variant 1.689347 0.1057 0.0261 0.295142 0.781021 0.122279 0.001375555 FALSE NA ENSE00001056160_005 ENSE00001056160 005 7 103003749 103003918 + 42 96 32 C G 103003781 2135 33 AAGCCTGTGACTGTATGTTGTACATTTCTGTCGCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363333 103363334 103363334 upstr_intron -10 -0.2142857 AAGCCTGTGACTGTATGTTGTACATTTCTGTCGCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 832 599 0.9975969 1 0.9987984 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.01541918 0.04412351 0.9889364 0.9690271 NA 0.02977135 NA FALSE NA 0 -2.363 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA CCC C,G 8.236e-06 7:103363334 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 intron_variant 1.856984 0.15969 0.0733 0.295142 0.797209 0.122279 0.001375555 FALSE NA ENSE00001056160_007 ENSE00001056160 007 7 103003749 103003918 + 42 96 32 A G 103003796 2137 48 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAGGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363348 103363349 103363349 exon 6 0.0625 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAGGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 1706 2193 0.9987632 0.9978322 0.9982977 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.0165855 0.0419557 0.9889364 0.9690271 NA 0.0292706 NA FALSE NA 0.771 -0.273 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 rs567731985 1 G:0.0014 G:0 G:0 NA G:0 G:0 G:0.0072 AAG A,G 0.0009142 7:103363349 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 synonymous_variant 0.600592 0.93848 0.18243 0.732398 0.7900178 0 0.001375555 FALSE 0.000869382 ENSE00001056160_008 ENSE00001056160 008 7 103003749 103003918 + 42 96 32 G A 103003799 2138 51 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAAAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363351 103363352 103363352 exon 9 0.09375 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAAAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 378 566 0.994606 0.9997205 0.9971632 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.01242826 0.04384399 0.9889364 0.9690271 NA 0.02813612 NA FALSE NA 1 1.747 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA AGA G,A 0.0002306 7:103363352 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 synonymous_variant 1.13251 0.95597 0.59599 0.732398 0.6726229 0 0.001375555 FALSE 0.000101568 ENSE00001056160_009 ENSE00001056160 009 7 103003749 103003918 + 42 96 32 T C 103003835 2139 87 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGCAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363387 103363388 103363388 exon 45 0.46875 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGCAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 4445 2175 0.9725795 0.9990912 0.9858353 0.9853702 0.9925026 0.9821777 0.9558765 NA NA -0.009598211 0.04321471 0.9889364 0.9690271 NA 0.01680825 NA FALSE NA 1 0.82 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA GTA T,C 2.471e-05 7:103363388 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 synonymous_variant 0.411827 0.96546 0.82619 0.732398 0.8437812 0 0.001375555 FALSE 2.43712e-05 ENSE00001056160_010 ENSE00001056160 010 7 103003749 103003918 + 42 96 32 G C 103003838 2140 90 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAACGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363390 103363391 103363391 exon 48 0.5 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAACGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 279 1095 0.9980665 1 0.9990333 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.01588882 0.04412351 0.9889364 0.9690271 NA 0.03000617 NA FALSE NA 1 1.126 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA AGG G,C 8.236e-06 7:103363391 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 missense_variant 2.654497 0.96461 0.90425 0.732398 0.9960179 0 0.001375555 FALSE 4.06177e-06 ENSE00001056160_011 ENSE00001056160 011 7 103003749 103003918 + 42 96 32 G A 103003858 2141 110 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCAAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363410 103363411 103363411 exon -29 0.7083333 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCAAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 228 594 1 0.9999359 0.999968 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.0178223 0.04405942 0.9889364 0.9690271 NA 0.03094086 NA FALSE NA 1 7.832 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA CGA G,A 8.236e-06 7:103363411 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 missense_variant 5.844781 0.99302 0.9854 0.732398 0.9993099 0 0.001375555 FALSE NA ENSE00001056160_012 ENSE00001056160 012 7 103003749 103003918 + 42 96 32 C T 103003873 2142 125 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAATCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363425 103363426 103363426 exon -14 0.8645833 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAATCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 171 141 0.9076634 1 0.9538317 0.9853702 0.9925026 0.9821777 0.9558765 NA NA -0.07451432 0.04412351 0.9889364 0.9690271 NA -0.01519541 NA FALSE NA 1 7.533 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA ACC C,T 8.236e-06 7:103363426 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 missense_variant 5.077191 0.99285 0.99659 0.732398 0.9968561 0 0.001375555 FALSE NA ENSE00001056160_013 ENSE00001056160 013 7 103003749 103003918 + 42 96 32 C T 103003895 2143 147 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGTTGAGTGTTGTATTTAAATTTCTT 103363301 103363471 103363447 103363448 103363448 downstr_intron 9 1.290323 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGTTGAGTGTTGTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 2401 2618 0.9985454 0.9448243 0.9716849 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.01636769 -0.01105216 0.9889364 0.9690271 NA 0.002657768 NA FALSE NA 0 -0.207 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 1 NA GCT C,T 8.236e-06 7:103363448 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 intron_variant 1.575572 0.14488 0.10627 0.088506 0.8059483 0.148684 0.001375555 FALSE 4.06425e-06 ENSE00001056160_014 ENSE00001056160 014 7 103003749 103003918 + 42 96 32 G C 103003904 2144 156 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTCTATTTAAATTTCTT 103363301 103363471 103363456 103363457 103363457 downstr_intron 18 1.580645 AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTCTATTTAAATTTCTT AAGCCTGTGACTGTATGTTGTACATTTCTGTCCCTCTCTTAGGTGGAAGAGAAACCTGATGTCACATACAGTGATGTTGGTGGCTGTAAGGAACAGATTGAGAAACTGCGAGAAGTAGTTGAAACCCCATTACTTCATGTAAGTAGCTGAGTGTTGTATTTAAATTTCTT mutant NA NA NA NA NA 246 1452 0.9984846 0.9975246 0.9980046 0.9853702 0.9925026 0.9821777 0.9558765 NA NA 0.01630688 0.04164813 0.9889364 0.9690271 NA 0.0289775 NA FALSE NA 0 -0.673 . intron_variant MODIFIER SLC26A5 HGNC 9359 ENST00000339444 19/19 rs374074238 1 NA C:0 C:0.0001 TGT G,C 1.647e-05 7:103363457 SLC26A5 HGNC Symbol protein_coding 93447 ENSG00000170615 ENSE00001056160 intron_variant 0.690139 0.1724 0.11699 0.088506 0.7405406 0.0634861 0.001375555 FALSE 1.22017e-05 ENSE00001062870_002 ENSE00001062870 002 11 72554456 72554625 - 38 84 48 T C 72554477 2100 149 TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCGTATCGCCCTTTCTTGTGACAT 72843410 72843580 72843431 72843432 72843432 downstr_intron 17 1.459459 TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCGTATCGCCCTTTCTTGTGACAT TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT mutant NA NA NA NA NA 156 674 0.8514306 0.8404788 0.8459547 0.8426074 0.6826665 0.8526824 0.7247335 NA NA -0.001251736 0.1157453 0.7626369 0.7887079 NA 0.05724679 NA FALSE NA 0.557 1.127 . intron_variant MODIFIER FCHSD2 HGNC 29114 ENST00000409263 1/4 1 NA ATG T,C 8.237e-06 11:72843432 FCHSD2 HGNC Symbol protein_coding 305516 ENSG00000137478 ENSE00003538320 3_prime_UTR_variant 1.72418 0.97494 0.862 0.295142 0.848531 0.879772 0.9947526 TRUE 4.06095e-06 ENSE00001062870_007 ENSE00001062870 007 11 72554456 72554625 - 38 84 48 A T 72554559 2105 67 TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGATGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT 72843410 72843580 72843513 72843514 72843514 exon 19 0.2261905 TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGATGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT mutant NA NA NA NA NA 14 35 0.9399766 0.9804701 0.9602234 0.8426074 0.6826665 0.8526824 0.7247335 NA NA 0.08729427 0.2557366 0.7626369 0.7887079 NA 0.1715154 NA FALSE NA 1 2.673 rs143408886 upstream_gene_variant MODIFIER FCHSD2 HGNC 29114 ENST00000409263 rs143408886 1 NA T:0 T:0.0001 AAC A,T 8.237e-06 11:72843514 FCHSD2 HGNC Symbol protein_coding 305516 ENSG00000137478 ENSE00003538320 missense_variant 4.781507 0.97648 0.92382 0.706548 0.9960492 0 0.9947526 TRUE 4.06128e-06 ENSE00001062870_010 ENSE00001062870 010 11 72554456 72554625 - 38 84 48 T C 72554570 2108 56 TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCGACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT 72843410 72843580 72843524 72843525 72843525 exon 8 0.0952381 TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCGACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT mutant NA NA NA NA NA 125 13 0.9754321 0.8 0.887716 0.8426074 0.6826665 0.8526824 0.7247335 NA NA 0.1227497 0.0752665 0.7626369 0.7887079 NA 0.09900809 NA FALSE NA 1 7.672 . upstream_gene_variant MODIFIER FCHSD2 HGNC 29114 ENST00000409263 1 NA TTG T,C 1.647e-05 11:72843525 FCHSD2 HGNC Symbol protein_coding 305516 ENSG00000137478 ENSE00003538320 missense_variant 3.215561 0.99054 0.98575 0.706548 0.994646 0 0.9947526 TRUE 1.21841e-05 ENSE00001062870_012 ENSE00001062870 012 11 72554456 72554625 - 38 84 48 G A 72554588 2110 38 TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCTTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT 72843410 72843580 72843542 72843543 72843543 upstr_intron -11 -0.2083333 TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCTTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT mutant 30 26 0.85 0.85 0.85 NA NA NA NA NA 0.8426074 0.6826665 0.8526824 0.7247335 0.007392626 0.1673335 NA NA 0.7626369 0.7887079 0.08736305 NA NA NA FALSE 0.055 1.033 . upstream_gene_variant MODIFIER FCHSD2 HGNC 29114 ENST00000409263 rs373197019 1 NA A:0 A:0.0001 AGG G,A 1.647e-05 11:72843543 FCHSD2 HGNC Symbol protein_coding 305516 ENSG00000137478 ENSE00003538320 3_prime_UTR_variant 1.81027 0.97405 0.39826 0.156188 0.8585307 0.887387 0.9947526 TRUE 1.21901e-05 ENSE00001062870_015 ENSE00001062870 015 11 72554456 72554625 - 38 84 48 G A 72554599 2113 27 TCCTTATCTAACCTTTTTAATTTTGTTCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT 72843410 72843580 72843553 72843554 72843554 upstr_intron -22 -0.4375 TCCTTATCTAACCTTTTTAATTTTGTTCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT TCCTTATCTAACCTTTTTAATTTTGTCCATGACCATCCTACACTGCAGGCTTCTCAACCAGATGAGTTGACCATTGAGGAACATGAGGTGTTAGAAGTGATTGAAGATGGAGATATGGAAGACTGGGTAAAGGTATATTCCTTTGCTCATATCGCCCTTTCTTGTGACAT mutant 40 54 0.85 0.85 0.85 135 323 0.8444282 0.8107579 0.8275931 0.8426074 0.6826665 0.8526824 0.7247335 0.007392626 0.1673335 -0.008254162 0.0860244 0.7626369 0.7887079 0.08736305 0.03888512 0.04847793 FALSE FALSE 0.218 0.448 . upstream_gene_variant MODIFIER FCHSD2 HGNC 29114 ENST00000409263 1 NA GGA G,A 8.237e-06 11:72843554 FCHSD2 HGNC Symbol protein_coding 305516 ENSG00000137478 ENSE00003538320 3_prime_UTR_variant 1.839745 0.95682 0.61554 0.156188 0.8256573 0.459315 0.9947526 TRUE 4.07077e-06 ENSE00001066716_013 ENSE00001066716 013 1 58992891 58993060 - 42 75 53 G A 58992969 2069 92 TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCTGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG 58527218 58527388 58527296 58527297 58527297 exon -37 0.52 TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCTGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG mutant NA NA NA NA NA 64 201 1 1 1 NA NA 0.994937 0.9977737 NA NA 0.005062993 0.002226255 NA 0.9963554 NA 0.003644624 NA FALSE NA 0.27 -0.484 . synonymous_variant LOW OMA1 HGNC 29661 ENST00000371226 7/9 1 NA CGG G,A 4.942e-05 1:58527297 OMA1 HGNC Symbol protein_coding 131418 ENSG00000162600 ENSE00003589509 synonymous_variant 1.272991 0.90684 0.04398 0.706298 0.5585602 0 3.511329e-09 FALSE 3.65898e-05 ENSE00001076964_003 ENSE00001076964 003 3 151100399 151100568 + 45 90 35 T G 151100415 3326 17 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTACAGTTTAATTTTTCTCT 151382610 151382780 151382626 151382627 151382627 upstr_intron -29 -0.6222222 AGAGAAAAATTAAACTGTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 239 732 0.9836307 0.9754005 0.9795156 NA NA 0.903493 0.9600511 NA NA 0.08013775 0.0153494 NA 0.9317721 NA 0.04774358 NA FALSE NA 0 0.39 . intron_variant MODIFIER MED12L HGNC 16050 ENST00000474524 30/42 1 NA TTT T,G 8.241e-06 3:151382627 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 intron_variant 0.300473 0.26961 0.16292 0.093295 0.4983876 0.0514581 0.9999993 TRUE 1.7796e-05 ENSE00001076964_006 ENSE00001076964 006 3 151100399 151100568 + 45 90 35 C T 151100434 3329 36 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCAGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382645 151382646 151382646 upstr_intron -10 -0.2 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCTGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 293 66 0.9886587 1 0.9943293 NA NA 0.903493 0.9600511 NA NA 0.08516571 0.03994886 NA 0.9317721 NA 0.06255729 NA FALSE NA 0 0.137 rs187903371 intron_variant MODIFIER MED12L HGNC 16050 ENST00000474524 30/42 rs187903371 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 CCG C,T 1.648e-05 3:151382646 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 intron_variant 0.541484 0.30019 0.05869 0.093295 0.803847 0.155721 0.9999993 TRUE NA ENSE00001076964_007 ENSE00001076964 007 3 151100399 151100568 + 45 90 35 G C 151100435 3330 37 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCGGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382646 151382647 151382647 upstr_intron -9 -0.1777778 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCCGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 550 375 0.8897904 1 0.9448952 NA NA 0.903493 0.9600511 NA NA -0.01370256 0.03994886 NA 0.9317721 NA 0.01312315 NA FALSE NA 0 -0.025 . intron_variant MODIFIER MED12L HGNC 16050 ENST00000474524 30/42 1 NA CGG G,C 8.238e-06 3:151382647 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 intron_variant 0.04511 0.27378 0.01242 0.093295 0.6337751 0.156117 0.9999993 TRUE 1.28946e-05 ENSE00001076964_008 ENSE00001076964 008 3 151100399 151100568 + 45 90 35 A C 151100437 3331 39 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGAGCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382648 151382649 151382649 upstr_intron -7 -0.1333333 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGCTCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 937 614 1 0.8036626 0.9018313 NA NA 0.903493 0.9600511 NA NA 0.09650704 -0.1563886 NA 0.9317721 NA -0.02994077 NA FALSE NA 0 0.278 . splice_region_variant&intron_variant LOW MED12L HGNC 16050 ENST00000474524 30/42 1 NA GAT A,C 8.237e-06 3:151382649 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 splice_region_variant -0.435032 0.19097 0.02181 0.093295 0.5974106 0.254692 0.9999993 TRUE 4.22233e-06 ENSE00001076964_009 ENSE00001076964 009 3 151100399 151100568 + 45 90 35 A G 151100453 3332 55 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTCACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382664 151382665 151382665 exon 10 0.1111111 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTGACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 1614 1707 0.9406832 0.9974379 0.9690605 NA NA 0.903493 0.9600511 NA NA 0.03719026 0.03738672 NA 0.9317721 NA 0.03728849 NA FALSE NA 1 7.252 rs138585048 missense_variant MODERATE MED12L HGNC 16050 ENST00000474524 31/43 rs138585048 1 tolerated(0.13) benign(0.097) NA G:0 G:0.0001 TAA A,G 8.237e-06 3:151382665 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 missense_variant 2.938595 0.99382 0.89522 0.615465 0.9970552 0 0.9999993 TRUE 1.24699e-05 ENSE00001076964_012 ENSE00001076964 012 3 151100399 151100568 + 45 90 35 A C 151100478 3335 80 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCAGCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382689 151382690 151382690 exon 35 0.3888889 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGCTGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 1078 1922 0.9966779 0.9999009 0.9982894 NA NA 0.903493 0.9600511 NA NA 0.09318491 0.0398498 NA 0.9317721 NA 0.06651735 NA FALSE NA 1 6.051 . missense_variant MODERATE MED12L HGNC 16050 ENST00000474524 31/43 1 deleterious(0) benign(0.022) NA GAT A,C 8.237e-06 3:151382690 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 missense_variant 3.787548 0.98726 0.96997 0.615465 0.9902869 0 0.9999993 TRUE 4.08898e-06 ENSE00001076964_014 ENSE00001076964 014 3 151100399 151100568 + 45 90 35 G A 151100491 3337 93 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGTGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382702 151382703 151382703 exon -43 0.5333333 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCACGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 132 165 0.9996878 1 0.9998439 NA NA 0.903493 0.9600511 NA NA 0.09619485 0.03994886 NA 0.9317721 NA 0.06807186 NA FALSE NA 0 -4.203 . synonymous_variant LOW MED12L HGNC 16050 ENST00000474524 31/43 1 NA CGC G,A 4.118e-05 3:151382703 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 synonymous_variant 0.738937 0.10494 0.01139 0.615465 0.9194843 0 0.9999993 TRUE 2.45457e-05 ENSE00001076964_016 ENSE00001076964 016 3 151100399 151100568 + 45 90 35 T G 151100502 3339 104 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCCTCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382713 151382714 151382714 exon -32 0.6555556 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGAGGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 1059 1016 1 0.983597 0.9917985 NA NA 0.903493 0.9600511 NA NA 0.09650704 0.02354585 NA 0.9317721 NA 0.06002644 NA FALSE NA 1 7.789 . missense_variant MODERATE MED12L HGNC 16050 ENST00000474524 31/43 1 deleterious(0) possibly_damaging(0.844) NA ATG T,G 8.237e-06 3:151382714 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 missense_variant 6.454396 0.99436 0.98758 0.615465 0.9851218 0 0.9999993 TRUE 4.08901e-06 ENSE00001076964_017 ENSE00001076964 017 3 151100399 151100568 + 45 90 35 C T 151100504 3340 106 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTACATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382715 151382716 151382716 exon -30 0.6777778 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGTACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 26 12 0.9879966 1 0.9939983 NA NA 0.903493 0.9600511 NA NA 0.08450365 0.03994886 NA 0.9317721 NA 0.06222625 NA FALSE NA 1 5.858 . missense_variant MODERATE MED12L HGNC 16050 ENST00000474524 31/43 1 deleterious(0.01) benign(0.133) NA GCA C,T 8.237e-06 3:151382716 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 missense_variant 3.762151 0.99578 0.9786 0.615465 0.99827 0 0.9999993 TRUE 2.45898e-05 ENSE00001076964_018 ENSE00001076964 018 3 151100399 151100568 + 45 90 35 C T 151100506 3341 108 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCATGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382717 151382718 151382718 exon -28 0.7 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCATGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 568 210 0.9961865 0.8384197 0.9173031 NA NA 0.903493 0.9600511 NA NA 0.09269351 -0.1216314 NA 0.9317721 NA -0.01446896 NA FALSE NA 0 -3.001 . synonymous_variant LOW MED12L HGNC 16050 ENST00000474524 31/43 1 NA ACG C,T 4.942e-05 3:151382718 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 synonymous_variant 1.921433 0.95678 0.06646 0.615465 0.9143756 0 0.9999993 TRUE 6.1414e-05 ENSE00001076964_019 ENSE00001076964 019 3 151100399 151100568 + 45 90 35 C G 151100519 3342 121 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGACTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382730 151382731 151382731 exon -15 0.8444444 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAAGTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 229 229 1 0.9431963 0.9715982 NA NA 0.903493 0.9600511 NA NA 0.09650704 -0.01685481 NA 0.9317721 NA 0.03982611 NA FALSE NA 1 5.829 . missense_variant MODERATE MED12L HGNC 16050 ENST00000474524 31/43 1 deleterious(0) probably_damaging(0.994) NA ACT C,G 8.237e-06 3:151382731 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 missense_variant 5.894167 0.99314 0.9812 0.615465 0.9980941 0 0.9999993 TRUE 4.11909e-06 ENSE00001076964_020 ENSE00001076964 020 3 151100399 151100568 + 45 90 35 C G 151100521 3343 123 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGCAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382732 151382733 151382733 exon -13 0.8666667 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTGCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 308 2625 0.9961976 0.9946235 0.9954106 NA NA 0.903493 0.9600511 NA NA 0.09270467 0.03457236 NA 0.9317721 NA 0.06363851 NA FALSE NA 0 -2.753 rs145220212 synonymous_variant LOW MED12L HGNC 16050 ENST00000474524 31/43 rs145220212 1 NA G:0.0002 G:0 TCC C,G 8.237e-06 3:151382733 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 synonymous_variant 1.214329 0.22024 0.03711 0.615465 0.7223975 0 0.9999993 TRUE 4.12732e-06 ENSE00001076964_021 ENSE00001076964 021 3 151100399 151100568 + 45 90 35 C T 151100522 3344 124 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCAGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382733 151382734 151382734 exon -12 0.8777778 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCTGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 61 301 1 1 1 NA NA 0.903493 0.9600511 NA NA 0.09650704 0.03994886 NA 0.9317721 NA 0.06822795 NA FALSE NA 1 4.615 . missense_variant MODERATE MED12L HGNC 16050 ENST00000474524 31/43 1 deleterious(0) probably_damaging(0.997) NA CCG C,T 8.237e-06 3:151382734 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 missense_variant 8.297947 0.99269 0.96752 0.615465 0.9994279 0 0.9999993 TRUE NA ENSE00001076964_022 ENSE00001076964 022 3 151100399 151100568 + 45 90 35 A G 151100527 3345 129 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTCAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382738 151382739 151382739 exon -7 0.9333333 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTGAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 1326 64 0.9946406 1 0.9973203 NA NA 0.903493 0.9600511 NA NA 0.09114763 0.03994886 NA 0.9317721 NA 0.06554825 NA FALSE NA 0 -3.981 . synonymous_variant LOW MED12L HGNC 16050 ENST00000474524 31/43 1 NA TAA A,G 1.647e-05 3:151382739 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 synonymous_variant 0.351763 0.0955 0.0142 0.615465 0.5877448 0 0.9999993 TRUE 8.31013e-06 ENSE00001080055_006 ENSE00001080055 006 3 196053785 196053954 - 41 78 51 G A 196053826 4247 129 ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGTGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC 196326913 196327083 196326954 196326955 196326955 exon -1 1 ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGTGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC mutant NA NA NA NA NA 184 76 0.8190967 0.8 0.8095483 0.8472372 0.8433978 0.7043563 0.6515063 NA NA 0.1147404 0.1484937 0.8453175 0.6779313 NA 0.131617 NA FALSE NA 0 -4.396 . splice_region_variant&synonymous_variant LOW TM4SF19 HGNC 25167 ENST00000273695 3/5 COSM1043024 1 NA CGC G,A 2.471e-05 3:196326955 TM4SF19 HGNC Symbol protein_coding 19161 ENSG00000145107 ENSE00003706439 splice_region_variant -0.31005 0.07079 0.00361 0.554377 0.8253385 0 0.01393084 FALSE 1.62529e-05 ENSE00001080055_011 ENSE00001080055 011 3 196053785 196053954 - 41 78 51 A G 196053867 4252 88 ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCCGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC 196326913 196327083 196326995 196326996 196326996 exon 37 0.474359 ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCCGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC mutant NA NA NA NA NA 475 11 0.8673356 0.8 0.8336678 0.8472372 0.8433978 0.7043563 0.6515063 NA NA 0.1629793 0.1484937 0.8453175 0.6779313 NA 0.1557365 NA FALSE NA 1 4.259 . missense_variant MODERATE TM4SF19 HGNC 25167 ENST00000273695 3/5 rs376467574 1 deleterious(0.03) benign(0.038) NA G:0 G:0.0001 CAG A,G 8.236e-06 3:196326996 TM4SF19 HGNC Symbol protein_coding 19161 ENSG00000145107 ENSE00003706439 missense_variant 1.012063 0.96117 0.86219 0.554377 0.7245244 0 0.01393084 FALSE 4.06101e-06 ENSE00001080055_012 ENSE00001080055 012 3 196053785 196053954 - 41 78 51 C A 196053903 4253 52 ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGTTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC 196326913 196327083 196327031 196327032 196327032 exon 1 0.01282051 ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGTTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC mutant NA NA NA NA NA 273 398 0.009958485 0.0233788 0.01666864 0.8472372 0.8433978 0.7043563 0.6515063 NA NA -0.6943978 -0.6281275 0.8453175 0.6779313 NA -0.6612627 NA TRUE NA 1 3.845 rs150423371 missense_variant&splice_region_variant MODERATE TM4SF19 HGNC 25167 ENST00000273695 3/5 rs150423371 1 deleterious(0.04) possibly_damaging(0.765) A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 ACC C,A 0.0001647 3:196327032 TM4SF19 HGNC Symbol protein_coding 19161 ENSG00000145107 ENSE00003706439 missense_variant 4.130006 0.9818 0.90565 0.554377 0.9976186 0 0.01393084 FALSE 0.000223459 ENSE00001080055_013 ENSE00001080055 013 3 196053785 196053954 - 41 78 51 A G 196053913 4254 42 ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCCCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC 196326913 196327083 196327041 196327042 196327042 upstr_intron -10 -0.1764706 ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCCCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC ACAGCCGGCAAAGTCGATTTCCCCATCTCAACATTCTTCTCTCTCCTGCAGGTACTCACTGCAGCTATCCTCATCTCCTTGATGGGCTGGAGATACGGCTGCTTCAGTAAGAGTGGGCTCTGTCGAAGCGTAAGCACCAGATTCCACTCTTCTAACACCCAGAATGTCTC mutant NA NA NA NA NA 429 33 0.003519735 0 0.001759867 0.8472372 0.8433978 0.7043563 0.6515063 NA NA -0.7008366 -0.6515063 0.8453175 0.6779313 NA -0.6761715 NA TRUE NA 0 0.784 . intron_variant MODIFIER TM4SF19 HGNC 25167 ENST00000273695 2/4 rs200105961 1 G:0.0004 G:0 G:0 NA G:0.002 G:0 G:0 GAG A,G 0.0001977 3:196327042 TM4SF19 HGNC Symbol protein_coding 19161 ENSG00000145107 ENSE00003706439 intron_variant 0.12323 0.21376 0.02886 0.078448 0.2939682 0.0969461 0.01393084 FALSE 0.000203326 ENSE00001080536_002 ENSE00001080536 002 1 44169647 44169816 + 44 93 33 C T 44169665 1678 19 GAGTCAGGGATATCCTAGTCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43703993 43703994 43703994 upstr_intron -26 -0.5681818 GAGTCAGGGATATCCTAGTCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant NA NA NA NA NA 402 170 1 1 1 0.9966971 0.9885812 0.9866949 0.9837115 NA NA 0.01330508 0.01628854 0.9926391 0.9852032 NA 0.01479681 NA FALSE NA 0.017 0.702 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 1 NA GCC C,T 8.236e-06 1:43703994 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 intron_variant -0.68489 0.29823 0.29468 0.256867 0.5122379 0.275409 NA NA 4.06365e-06 ENSE00001080536_003 ENSE00001080536 003 1 44169647 44169816 + 44 93 33 A C 44169668 1679 22 GAGTCAGGGATATCCTAGCCACAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43703996 43703997 43703997 upstr_intron -23 -0.5 GAGTCAGGGATATCCTAGCCACAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant NA NA NA NA NA 121 484 0.9235325 0.96313 0.9433312 0.9966971 0.9885812 0.9866949 0.9837115 NA NA -0.06316247 -0.02058143 0.9926391 0.9852032 NA -0.04187195 NA FALSE NA 0.001 0.694 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 1 NA AAA A,C 1.647e-05 1:43703997 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 intron_variant -1.144701 0.29712 0.43958 0.256867 0.6939382 0.275409 NA NA 1.62488e-05 ENSE00001080536_004 ENSE00001080536 004 1 44169647 44169816 + 44 93 33 G A 44169671 1680 25 GAGTCAGGGATATCCTAGCCAAAAAGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43703999 43704000 43704000 upstr_intron -20 -0.4318182 GAGTCAGGGATATCCTAGCCAAAAAGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant NA NA NA NA NA 2762 1534 0.9977523 0.9992776 0.9985149 0.9966971 0.9885812 0.9866949 0.9837115 NA NA 0.01105734 0.01556617 0.9926391 0.9852032 NA 0.01331175 NA FALSE NA 0.013 0.081 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 1 NA AGG G,A 8.236e-06 1:43704000 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 intron_variant -0.65242 0.3398 0.10659 0.256867 0.527346 0.307604 NA NA 3.24921e-05 ENSE00001080536_005 ENSE00001080536 005 1 44169647 44169816 + 44 93 33 G A 44169691 1681 45 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGATGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43704019 43704020 43704020 exon 1 0.01075269 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGATGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant 16 11 1 1 1 1100 105 0.9990609 0.9809257 0.9899933 0.9966971 0.9885812 0.9866949 0.9837115 0.00330289 0.01141883 0.012366 -0.002785796 0.9926391 0.9852032 0.007360861 0.004790103 0.002570758 FALSE FALSE 1 9.811 rs143474834 intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 rs143474834 1 A:0.0004 A:0 A:0 NA A:0 A:0.001 A:0.001 A:0.0007 A:0.0024 GGT G,A 0.001095 1:43704020 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 missense_variant 5.837965 0.97872 0.98404 0.706548 0.9987682 0 NA NA 0.00092179 ENSE00001080536_006 ENSE00001080536 006 1 44169647 44169816 + 44 93 33 T A 44169716 1682 70 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACATGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43704044 43704045 43704045 exon 26 0.2795699 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACATGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant 15 10 1 1 1 32 67 1 0.9809189 0.9904594 0.9966971 0.9885812 0.9866949 0.9837115 0.00330289 0.01141883 0.01330508 -0.002792578 0.9926391 0.9852032 0.007360861 0.00525625 0.00210461 FALSE FALSE 1 6.095 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 1 NA CTT T,A 8.236e-06 1:43704045 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 missense_variant 4.629509 0.97336 0.96546 0.706548 0.9805283 0 NA NA 8.12137e-06 ENSE00001080536_007 ENSE00001080536 007 1 44169647 44169816 + 44 93 33 T G 44169717 1683 71 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTGGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43704045 43704046 43704046 exon 27 0.2903226 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTGGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant NA NA NA NA NA 393 582 0.9783012 0.9974083 0.9878548 0.9966971 0.9885812 0.9866949 0.9837115 NA NA -0.008393715 0.01369687 0.9926391 0.9852032 NA 0.002651577 NA FALSE NA 0.968 0.02 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 1 NA TTG T,G 8.236e-06 1:43704046 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 synonymous_variant -0.12152 0.91372 0.71905 0.706548 0.8032918 0 NA NA 1.2182e-05 ENSE00001080536_008 ENSE00001080536 008 1 44169647 44169816 + 44 93 33 G A 44169754 1684 108 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAAAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43704082 43704083 43704083 exon -30 0.688172 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAAAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant 14 20 1 1 1 206 1029 1 0.9996925 0.9998462 0.9966971 0.9885812 0.9866949 0.9837115 0.00330289 0.01141883 0.01330508 0.01598103 0.9926391 0.9852032 0.007360861 0.01464305 0.007282192 FALSE FALSE 1 9.811 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 1 NA AGA G,A 8.236e-06 1:43704083 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 missense_variant 6.710984 0.97896 0.98394 0.706548 0.9988562 0 NA NA 4.06068e-06 ENSE00001080536_009 ENSE00001080536 009 1 44169647 44169816 + 44 93 33 T G 44169759 1685 113 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTGCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43704087 43704088 43704088 exon -25 0.7419355 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTGCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant NA NA NA NA NA 631 1282 0.9999348 0.9998766 0.9999057 0.9966971 0.9885812 0.9866949 0.9837115 NA NA 0.01323984 0.01616516 0.9926391 0.9852032 NA 0.0147025 NA FALSE NA 1 1.112 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 COSM1602446 1 NA TTC T,G 8.236e-06 1:43704088 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 synonymous_variant -0.095944 0.92987 0.84448 0.706548 0.8438513 0 NA NA 8.12137e-06 ENSE00001080536_011 ENSE00001080536 011 1 44169647 44169816 + 44 93 33 A T 44169790 1687 144 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTTTTTTCTGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43704118 43704119 43704119 downstr_intron 7 1.21875 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTTTTTTCTGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant NA NA NA NA NA 112 2092 1 1 1 0.9966971 0.9885812 0.9866949 0.9837115 NA NA 0.01330508 0.01628854 0.9926391 0.9852032 NA 0.01479681 NA FALSE NA 0.001 0.066 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 1 NA TAT A,T 1.647e-05 1:43704119 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 splice_region_variant 0.313936 0.91471 0.25031 0.069865 0.8048052 0.341647 NA NA 8.12183e-06 ENSE00001080536_012 ENSE00001080536 012 1 44169647 44169816 + 44 93 33 T C 44169796 1688 150 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCCGTGTCCCCCCAGTTCCTGTC 43703975 43704145 43704124 43704125 43704125 downstr_intron 13 1.40625 GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCCGTGTCCCCCCAGTTCCTGTC GAGTCAGGGATATCCTAGCCAAAAGGCCTTTGTTTCCTTGGTAGGTGGAGTTTGAGGATGGCTCACAACTTGTGGTTAAGAGAGATGATGTATACACACTGGATGAAGAGCTTCCCAAGAGAGTCAAATCTAGACTGGTGAGTATTTTCTGTGTCCCCCCAGTTCCTGTC mutant NA NA NA NA NA 635 45 1 0.9964691 0.9982346 0.9966971 0.9885812 0.9866949 0.9837115 NA NA 0.01330508 0.01275764 0.9926391 0.9852032 NA 0.01303136 NA FALSE NA 0 0.095 . intron_variant&non_coding_transcript_variant MODIFIER KDM4A-AS1 HGNC 40528 ENST00000434346 1/2 rs201213227 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 CTG T,C 0.0003377 1:43704125 KDM4A-AS1 HGNC Symbol antisense 8373 ENSG00000236200 ENSE00001080536 intron_variant 0.013135 0.6317 0.17583 0.069865 0.8059162 0.272455 NA NA 0.000349241 ENSE00001084404_001 ENSE00001084404 001 6 139568921 139569090 - 33 93 44 T C 139568933 2295 158 GTCAATATTTTGCTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247795 139247796 139247796 downstr_intron 21 1.65625 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAGCAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 354 78 1 0.9834236 0.9917118 NA NA 0.9590426 0.998632 NA NA 0.04095738 -0.01520839 NA 0.9788373 NA 0.01287449 NA FALSE NA 0 0.026 . intron_variant MODIFIER TXLNB HGNC 21617 ENST00000358430 8/9 1 NA GTT T,C 8.237e-06 6:139247796 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 intron_variant 0.10354 0.22012 0.14281 0.125411 0.4986912 0.11514 1.645778e-16 FALSE 4.70327e-06 ENSE00001084404_002 ENSE00001084404 002 6 139568921 139569090 - 33 93 44 G C 139568938 2296 153 GTCAATATTTTGTTGGTCATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247800 139247801 139247801 downstr_intron 16 1.5 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATGACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 713 494 1 1 1 NA NA 0.9590426 0.998632 NA NA 0.04095738 0.001368027 NA 0.9788373 NA 0.0211627 NA FALSE NA 0.005 0.118 . intron_variant MODIFIER TXLNB HGNC 21617 ENST00000358430 8/9 rs375855246 1 NA C:0 C:0.0001 TGA G,C 8.237e-06 6:139247801 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 intron_variant -0.232193 0.2275 0.15024 0.125411 0.3723445 0.0931572 1.645778e-16 FALSE 4.47267e-06 ENSE00001084404_007 ENSE00001084404 007 6 139568921 139569090 - 33 93 44 A G 139568961 2301 130 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCGTTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247823 139247824 139247824 exon -8 0.9247312 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAACGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 786 34 0.9384664 1 0.9692332 NA NA 0.9590426 0.998632 NA NA -0.02057624 0.001368027 NA 0.9788373 NA -0.009604104 NA FALSE NA 1 8.619 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 8/10 rs368627711 1 deleterious(0.01) probably_damaging(0.991) NA CAT A,G 3.295e-05 6:139247824 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 missense_variant 6.093752 0.96409 0.934 0.553676 0.9919075 0 1.645778e-16 FALSE 6.72037e-05 ENSE00001084404_008 ENSE00001084404 008 6 139568921 139569090 - 33 93 44 C T 139568975 2302 116 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAATGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247837 139247838 139247838 exon -22 0.7741935 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACATTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 216 62 0.9965192 1 0.9982596 NA NA 0.9590426 0.998632 NA NA 0.03747662 0.001368027 NA 0.9788373 NA 0.01942232 NA FALSE NA 0.934 0.592 . synonymous_variant LOW TXLNB HGNC 21617 ENST00000358430 8/10 1 NA ACG C,T 8.237e-06 6:139247838 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 synonymous_variant 2.263794 0.90717 0.47017 0.553676 0.5623359 0 1.645778e-16 FALSE NA ENSE00001084404_009 ENSE00001084404 009 6 139568921 139569090 - 33 93 44 G A 139568976 2303 115 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACATGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247838 139247839 139247839 exon -23 0.7634409 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCATGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 514 1407 0.9867672 0.9946353 0.9907012 NA NA 0.9590426 0.998632 NA NA 0.02772455 -0.003996651 NA 0.9788373 NA 0.01186395 NA FALSE NA 1 2.956 rs138406859 missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 8/10 rs138406859 1 deleterious(0) probably_damaging(0.977) NA A:0 A:0.0001 CGT G,A 1.647e-05 6:139247839 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 missense_variant 6.478517 0.94551 0.7664 0.553676 0.9990372 0 1.645778e-16 FALSE 8.37507e-06 ENSE00001084404_010 ENSE00001084404 010 6 139568921 139569090 - 33 93 44 G A 139568978 2304 113 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTAGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247840 139247841 139247841 exon -25 0.7419355 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCTACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 111 423 1 0.9998199 0.9999099 NA NA 0.9590426 0.998632 NA NA 0.04095738 0.001187886 NA 0.9788373 NA 0.02107263 NA FALSE NA 1 1.062 . synonymous_variant LOW TXLNB HGNC 21617 ENST00000358430 8/10 1 NA TGG G,A 8.237e-06 6:139247841 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 synonymous_variant 1.354941 0.92601 0.686 0.553676 0.593756 0 1.645778e-16 FALSE 4.18946e-06 ENSE00001084404_013 ENSE00001084404 013 6 139568921 139569090 - 33 93 44 C G 139568989 2307 102 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTGGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247851 139247852 139247852 exon -36 0.6236559 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACCAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 14 237 1 0.9993321 0.9996661 NA NA 0.9590426 0.998632 NA NA 0.04095738 0.0007001308 NA 0.9788373 NA 0.02082875 NA FALSE NA 1 5.453 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 8/10 COSM248159 1 deleterious(0.01) probably_damaging(0.942) NA TCG C,G 8.237e-06 6:139247852 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 missense_variant 4.80507 0.97136 0.89821 0.553676 0.9978122 0 1.645778e-16 FALSE 4.16722e-06 ENSE00001084404_014 ENSE00001084404 014 6 139568921 139569090 - 33 93 44 G A 139568990 2308 101 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCATTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247852 139247853 139247853 exon -37 0.6129032 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAATGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 174 208 1 1 1 NA NA 0.9590426 0.998632 NA NA 0.04095738 0.001368027 NA 0.9788373 NA 0.0211627 NA FALSE NA 0.976 0.611 rs142784490 synonymous_variant LOW TXLNB HGNC 21617 ENST00000358430 8/10 rs142784490 1 NA A:0.0007 A:0 CGT G,A 1.647e-05 6:139247853 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 synonymous_variant 0.343541 0.81582 0.24235 0.553676 0.5007785 0 1.645778e-16 FALSE 1.66756e-05 ENSE00001084404_018 ENSE00001084404 018 6 139568921 139569090 - 33 93 44 T G 139569018 2312 73 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATGCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247880 139247881 139247881 exon 29 0.311828 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGCATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 1592 857 0.9032529 0.998882 0.9510675 NA NA 0.9590426 0.998632 NA NA -0.05578975 0.000250066 NA 0.9788373 NA -0.02776984 NA FALSE NA 1 7.411 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 8/10 1 deleterious(0) probably_damaging(0.998) NA TTC T,G 8.237e-06 6:139247881 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 missense_variant 6.518232 0.96411 0.91638 0.553676 0.997138 0 1.645778e-16 FALSE 4.15863e-06 ENSE00001084404_019 ENSE00001084404 019 6 139568921 139569090 - 33 93 44 C T 139569026 2313 65 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAATCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247888 139247889 139247889 exon 21 0.2258065 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGATTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 679 730 1 0.9997833 0.9998916 NA NA 0.9590426 0.998632 NA NA 0.04095738 0.001151319 NA 0.9788373 NA 0.02105435 NA FALSE NA 1 1.389 . synonymous_variant LOW TXLNB HGNC 21617 ENST00000358430 8/10 1 NA ACC C,T 4.942e-05 6:139247889 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 synonymous_variant 2.214559 0.94036 0.68865 0.553676 0.733694 0 1.645778e-16 FALSE 2.49248e-05 ENSE00001084404_020 ENSE00001084404 020 6 139568921 139569090 - 33 93 44 G C 139569038 2314 53 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTACAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247900 139247901 139247901 exon 9 0.09677419 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTGTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 256 195 0.99707 1 0.998535 NA NA 0.9590426 0.998632 NA NA 0.03802734 0.001368027 NA 0.9788373 NA 0.01969768 NA FALSE NA 1 1.476 . synonymous_variant LOW TXLNB HGNC 21617 ENST00000358430 8/10 1 NA AGA G,C 8.237e-06 6:139247901 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 synonymous_variant 0.833485 0.908 0.59173 0.553676 0.6166614 0 1.645778e-16 FALSE 1.25607e-05 ENSE00001084404_021 ENSE00001084404 021 6 139568921 139569090 - 33 93 44 G A 139569042 2315 49 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAATGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247904 139247905 139247905 exon 5 0.05376344 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCATTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 21 851 1 1 1 NA NA 0.9590426 0.998632 NA NA 0.04095738 0.001368027 NA 0.9788373 NA 0.0211627 NA FALSE NA 0.966 3.853 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 8/10 1 deleterious(0) possibly_damaging(0.898) NA AGT G,A 1.647e-05 6:139247905 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 missense_variant 5.713894 0.66273 0.61206 0.553676 0.9985523 0 1.645778e-16 FALSE 1.25835e-05 ENSE00001084404_022 ENSE00001084404 022 6 139568921 139569090 - 33 93 44 T C 139569043 2316 48 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGCGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247905 139247906 139247906 exon 4 0.04301075 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCGCTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 175 170 1 1 1 NA NA 0.9590426 0.998632 NA NA 0.04095738 0.001368027 NA 0.9788373 NA 0.0211627 NA FALSE NA 0.654 1.161 rs72988902 missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 8/10 rs72988902 1 tolerated(0.38) benign(0.377) C:0.0010 C:0 C:0.0014 NA C:0 C:0.004 C:0 C:0.0005 C:0.004 GTG T,C 0.001557 6:139247906 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 missense_variant 1.929496 0.59887 0.37227 0.553676 0.9813659 0 1.645778e-16 FALSE 0.0016424 ENSE00001084404_023 ENSE00001084404 023 6 139568921 139569090 - 33 93 44 G T 139569059 2317 32 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGTAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247921 139247922 139247922 upstr_intron -13 -0.2727273 TTCTGGAAGTATTCTGAAAGATCCACTCTTTACTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 846 241 0.9987775 1 0.9993887 NA NA 0.9590426 0.998632 NA NA 0.03973487 0.001368027 NA 0.9788373 NA 0.02055145 NA FALSE NA 0 0.079 . intron_variant MODIFIER TXLNB HGNC 21617 ENST00000358430 7/9 1 NA GGA G,T 8.237e-06 6:139247922 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 intron_variant 0.449278 0.2222 0.17943 0.093295 0.5493962 0.116688 1.645778e-16 FALSE NA ENSE00001084404_024 ENSE00001084404 024 6 139568921 139569090 - 33 93 44 A G 139569060 2318 31 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGGAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247922 139247923 139247923 upstr_intron -14 -0.2954545 TTCTGGAAGTATTCTGAAAGATCCACTCTTCCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 318 632 0.9755054 1 0.9877527 NA NA 0.9590426 0.998632 NA NA 0.01646283 0.001368027 NA 0.9788373 NA 0.008915428 NA FALSE NA 0.012 0.833 . intron_variant MODIFIER TXLNB HGNC 21617 ENST00000358430 7/9 rs547742213 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GAA A,G 8.237e-06 6:139247923 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 intron_variant 0.468946 0.29727 0.08524 0.093295 0.7004679 0.0736555 1.645778e-16 FALSE 4.51459e-06 ENSE00001084404_027 ENSE00001084404 027 6 139568921 139569090 - 33 93 44 G C 139569077 2321 14 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCACAATACTTCCAGAA 139247783 139247953 139247939 139247940 139247940 upstr_intron -31 -0.6818182 TTCTGGAAGTATTGTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 293 735 0.9971566 1 0.9985783 NA NA 0.9590426 0.998632 NA NA 0.03811394 0.001368027 NA 0.9788373 NA 0.01974098 NA FALSE NA 0 0.175 . intron_variant MODIFIER TXLNB HGNC 21617 ENST00000358430 7/9 rs12210973 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 AGA G,C 1.647e-05 6:139247940 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 intron_variant -0.135307 0.20097 0.11502 0.093295 0.6104388 0.092965 1.645778e-16 FALSE 4.75706e-06 ENSE00001084404_028 ENSE00001084404 028 6 139568921 139569090 - 33 93 44 A C 139569078 2322 13 GTCAATATTTTGTTGGTGATAAGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGCATACTTCCAGAA 139247783 139247953 139247940 139247941 139247941 upstr_intron -32 -0.7045455 TTCTGGAAGTATGCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 28 784 1 0.997885 0.9989425 NA NA 0.9590426 0.998632 NA NA 0.04095738 -0.0007469729 NA 0.9788373 NA 0.0201052 NA FALSE NA 0 2.165 . intron_variant MODIFIER TXLNB HGNC 21617 ENST00000358430 7/9 1 NA GAA A,C 8.237e-06 6:139247941 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 intron_variant -0.141815 0.25993 0.19321 0.093295 0.6999353 0.105245 1.645778e-16 FALSE 4.74753e-06 ENSE00001084407_001 ENSE00001084407 001 6 139565700 139565869 - 32 96 42 C T 139565741 2279 129 GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATTATGTCCAACAGAGCTTTGTTACAGTTCTCAAATCGGGCTTTCCATGTGGCTGTGTCCTTTTCCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAGAGTGAGTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 139244603 139244604 139244604 exon -10 0.90625 TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATAATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC mutant NA NA NA NA NA 11 400 1 1 1 0.9998117 1 0.9750594 0.9165498 NA NA 0.02494061 0.0834502 0.9999059 0.9458046 NA 0.05419541 NA FALSE NA 1 7.24 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 9/10 1 deleterious(0) probably_damaging(0.973) NA TCA C,T 8.237e-06 6:139244604 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00003542331 missense_variant 7.083642 0.99412 0.9781 0.553676 0.9979927 0 1.645778e-16 FALSE 4.06233e-06 ENSE00001084407_002 ENSE00001084407 002 6 139565700 139565869 - 32 96 42 T C 139565743 2280 127 GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATCACGTCCAACAGAGCTTTGTTACAGTTCTCAAATCGGGCTTTCCATGTGGCTGTGTCCTTTTCCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAGAGTGAGTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 139244605 139244606 139244606 exon -12 0.8854167 TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACGTGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC mutant NA NA NA NA NA 362 31 1 1 1 0.9998117 1 0.9750594 0.9165498 NA NA 0.02494061 0.0834502 0.9999059 0.9458046 NA 0.05419541 NA FALSE NA 1 7.444 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 9/10 1 deleterious(0) probably_damaging(0.957) NA ATG T,C 1.647e-05 6:139244606 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00003542331 missense_variant 4.615905 0.99214 0.97591 0.553676 0.9953849 0 1.645778e-16 FALSE 1.6248e-05 ENSE00001084407_003 ENSE00001084407 003 6 139565700 139565869 - 32 96 42 A G 139565751 2281 119 GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATCATGTCCAACGGAGCTTTGTTACAGTTCTCAAATCGGGCTTTCCATGTGGCTGTGTCCTTTTCCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAGAGTGAGTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 139244613 139244614 139244614 exon -20 0.8020833 TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCCGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC mutant NA NA NA NA NA 717 1277 0.9968998 1 0.9984499 0.9998117 1 0.9750594 0.9165498 NA NA 0.02184038 0.0834502 0.9999059 0.9458046 NA 0.05264529 NA FALSE NA 1 8.659 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 9/10 1 deleterious(0) probably_damaging(0.998) NA CAG A,G 4.118e-05 6:139244614 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00003542331 missense_variant 6.441205 0.98525 0.98319 0.553676 0.9989048 0 1.645778e-16 FALSE 6.09256e-05 ENSE00001084407_005 ENSE00001084407 005 6 139565700 139565869 - 32 96 42 A G 139565772 2283 98 GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATCATGTCCAACAGAGCTTTGTTACAGTTCTCAGATCGGGCTTTCCATGTGGCTGTGTCCTTTTCCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAGAGTGAGTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 139244634 139244635 139244635 exon -41 0.5833333 TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATCTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC mutant NA NA NA NA NA 199 485 0.9787879 1 0.989394 0.9998117 1 0.9750594 0.9165498 NA NA 0.003728538 0.0834502 0.9999059 0.9458046 NA 0.04358937 NA FALSE NA 1 3.156 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 9/10 1 deleterious(0) probably_damaging(0.913) NA AAA A,G 8.237e-06 6:139244635 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00003542331 missense_variant 6.350693 0.98284 0.8982 0.553676 0.9989243 0 1.645778e-16 FALSE 8.12321e-06 ENSE00001084407_009 ENSE00001084407 009 6 139565700 139565869 - 32 96 42 C T 139565798 2287 72 GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATCATGTCCAACAGAGCTTTGTTACAGTTCTCAAATCGGGCTTTCCATGTGGCTGTGTCTTTTTCCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAGAGTGAGTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 139244660 139244661 139244661 exon 30 0.3125 TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAAGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC mutant NA NA NA NA NA 172 1918 0.9605806 0.9493166 0.9549486 0.9998117 1 0.9750594 0.9165498 NA NA -0.01447877 0.03276679 0.9999059 0.9458046 NA 0.009144013 NA FALSE NA 0.975 0.151 . synonymous_variant LOW TXLNB HGNC 21617 ENST00000358430 9/10 1 NA CCT C,T 8.237e-06 6:139244661 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00003542331 synonymous_variant 2.238105 0.9795 0.73336 0.553676 0.7218082 0 1.645778e-16 FALSE 8.12381e-06 ENSE00001084407_010 ENSE00001084407 010 6 139565700 139565869 - 32 96 42 C T 139565803 2288 67 GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATCATGTCCAACAGAGCTTTGTTACAGTTCTCAAATCGGGCTTTCCATGTGGCTGTGTCCTTTTTCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAGAGTGAGTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 139244665 139244666 139244666 exon 25 0.2604167 TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGAAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC mutant NA NA NA NA NA 90 68 0.9785223 0.9976671 0.9880947 0.9998117 1 0.9750594 0.9165498 NA NA 0.003462868 0.08111726 0.9999059 0.9458046 NA 0.04229007 NA FALSE NA 1 7.24 . missense_variant MODERATE TXLNB HGNC 21617 ENST00000358430 9/10 COSM1269552 1 deleterious(0.01) probably_damaging(0.997) NA TCC C,T 8.237e-06 6:139244666 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00003542331 missense_variant 7.764616 0.99412 0.9781 0.553676 0.9993172 0 1.645778e-16 FALSE 4.0621e-06 ENSE00001084407_015 ENSE00001084407 015 6 139565700 139565869 - 32 96 42 G A 139565840 2293 30 GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATCATGTCCAACAGAGCTTTGTTACAGTTCTCAAATCGGGCTTTCCATGTGGCTGTGTCCTTTTCCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAAAGTGAGTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 139244702 139244703 139244703 upstr_intron -13 -0.2857143 TAACTTTTCAAGATTAACACACACTCACTTTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC mutant NA NA NA NA NA 1158 359 0.9953973 0.9991179 0.9972576 0.9998117 1 0.9750594 0.9165498 NA NA 0.02033794 0.08256811 0.9999059 0.9458046 NA 0.05145302 NA FALSE NA 0.016 0.233 . intron_variant MODIFIER TXLNB HGNC 21617 ENST00000358430 8/9 1 NA AGA G,A 8.237e-06 6:139244703 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00003542331 intron_variant 0.495752 0.27815 0.0598 0.053691 0.5415269 0.321607 1.645778e-16 FALSE 4.06494e-06 ENSE00001084407_016 ENSE00001084407 016 6 139565700 139565869 - 32 96 42 G C 139565846 2294 24 GGGGATTAAAGCTAAGGGAGAAACTTCCTCACCTCTTCAATCATGTCCAACAGAGCTTTGTTACAGTTCTCAAATCGGGCTTTCCATGTGGCTGTGTCCTTTTCCAGCTTCTTCATTTTCTTAGTTGTCTACAGAAATTAGAGTGACTGTGTGTTAATCTTGAAAAGTTA 139244562 139244732 139244708 139244709 139244709 upstr_intron -19 -0.4285714 TAACTTTTCAAGATTAACACACAGTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC TAACTTTTCAAGATTAACACACACTCACTCTAATTTCTGTAGACAACTAAGAAAATGAAGAAGCTGGAAAAGGACACAGCCACATGGAAAGCCCGATTTGAGAACTGTAACAAAGCTCTGTTGGACATGATTGAAGAGGTGAGGAAGTTTCTCCCTTAGCTTTAATCCCC mutant NA NA NA NA NA 225 1458 0.9945059 0.997535 0.9960204 0.9998117 1 0.9750594 0.9165498 NA NA 0.01944649 0.08098516 0.9999059 0.9458046 NA 0.05021583 NA FALSE NA 0.024 0.381 . intron_variant MODIFIER TXLNB HGNC 21617 ENST00000358430 8/9 1 NA AGT G,C 8.237e-06 6:139244709 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00003542331 intron_variant -0.530607 0.30511 0.04926 0.053691 0.5763448 0.063539 1.645778e-16 FALSE 4.06693e-06 ENSE00001089895_001 ENSE00001089895 001 9 72090932 72091101 - 32 96 42 T A 72090945 536 157 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTTCCAAAGCCATTGG 69476015 69476185 69476028 69476029 69476029 downstr_intron 19 1.612903 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTTCCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 468 17 0.8712887 1 0.9356443 0.9860417 1 0.9663862 0.9296835 NA NA -0.0950975 0.07031647 0.9930208 0.9480348 NA -0.01239052 NA FALSE NA 0 -1.282 . intron_variant MODIFIER APBA1 HGNC 578 ENST00000265381 3/12 1 NA GTA T,A 1.647e-05 9:69476029 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 intron_variant 0.100419 0.12871 0.01237 0.053691 0.4426161 0.0862078 0.8658413 FALSE 1.22197e-05 ENSE00001089895_002 ENSE00001089895 002 9 72090932 72091101 - 32 96 42 C T 72090963 537 139 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGATAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476046 69476047 69476047 downstr_intron 1 1.032258 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGATAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 66 353 0 0.09418529 0.04709265 0.9860417 1 0.9663862 0.9296835 NA NA -0.9663862 -0.8354982 0.9930208 0.9480348 NA -0.9009422 NA TRUE NA 1 5.946 rs146989913 splice_donor_variant HIGH APBA1 HGNC 578 ENST00000265381 3/12 rs146989913 1 NA T:0.0002 T:0 HC ACC C,T 8.236e-06 9:69476047 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 splice_donor_variant 5.936872 0.99455 0.97536 0.053691 0.9957123 0.986191 0.8658413 FALSE NA ENSE00001089895_003 ENSE00001089895 003 9 72090932 72091101 - 32 96 42 T C 72090969 538 133 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATGAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476052 69476053 69476053 exon -6 0.9479167 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATGAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 318 282 1 0.994557 0.9972785 0.9860417 1 0.9663862 0.9296835 NA NA 0.03361384 0.06487351 0.9930208 0.9480348 NA 0.04924367 NA FALSE NA 1 6.113 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 tolerated(0.28) benign(0.113) NA TTA T,C 8.236e-06 9:69476053 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 3.019328 0.99298 0.97368 0.554377 0.9958077 0 0.8658413 FALSE 4.06385e-06 ENSE00001089895_004 ENSE00001089895 004 9 72090932 72091101 - 32 96 42 T C 72090975 539 127 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCGCTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476058 69476059 69476059 exon -12 0.8854167 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCGCTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 1005 762 0.9250272 0.9971947 0.9611109 0.9860417 1 0.9663862 0.9296835 NA NA -0.04135898 0.06751117 0.9930208 0.9480348 NA 0.0130761 NA FALSE NA 1 0.963 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 tolerated(0.3) benign(0.004) NA GTG T,C 8.236e-06 9:69476059 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 1.375158 0.97102 0.73026 0.554377 0.8959655 0 0.8658413 FALSE 4.06329e-06 ENSE00001089895_005 ENSE00001089895 005 9 72090932 72091101 - 32 96 42 C T 72090979 540 123 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCATCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476062 69476063 69476063 exon -16 0.84375 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCATCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 2386 874 1 0.9867244 0.9933622 0.9860417 1 0.9663862 0.9296835 NA NA 0.03361384 0.0570409 0.9930208 0.9480348 NA 0.04532737 NA FALSE NA 0.994 0.242 rs138175870 synonymous_variant LOW APBA1 HGNC 578 ENST00000265381 3/13 rs138175870 1 NA T:0 T:0.0001 ACG C,T 5.765e-05 9:69476063 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 synonymous_variant 1.813863 0.96934 0.55377 0.554377 0.520828 0 0.8658413 FALSE 5.68865e-05 ENSE00001089895_006 ENSE00001089895 006 9 72090932 72091101 - 32 96 42 C T 72090984 541 118 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGAAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476067 69476068 69476068 exon -21 0.7916667 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGAAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 3425 175 0.9580338 0.9859304 0.9719821 0.9860417 1 0.9663862 0.9296835 NA NA -0.008352407 0.0562469 0.9930208 0.9480348 NA 0.02394725 NA FALSE NA 0.998 5.899 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 deleterious(0.03) benign(0.058) NA TCC C,T 1.647e-05 9:69476068 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 3.218286 0.99441 0.97476 0.554377 0.9973415 0 0.8658413 FALSE 2.84361e-05 ENSE00001089895_007 ENSE00001089895 007 9 72090932 72091101 - 32 96 42 G C 72090989 542 113 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCGTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476072 69476073 69476073 exon -26 0.7395833 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCGTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 175 128 1 1 1 0.9860417 1 0.9663862 0.9296835 NA NA 0.03361384 0.07031647 0.9930208 0.9480348 NA 0.05196515 NA FALSE NA 1 3.464 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 deleterious(0.02) benign(0.029) NA AGG G,C 8.236e-06 9:69476073 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 0.934273 0.6887 0.67611 0.554377 0.9809867 0 0.8658413 FALSE 4.06233e-06 ENSE00001089895_008 ENSE00001089895 008 9 72090932 72091101 - 32 96 42 G C 72090998 543 104 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCGCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476081 69476082 69476082 exon -35 0.6458333 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCGCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 259 360 0.9946315 0.9914218 0.9930267 0.9860417 1 0.9663862 0.9296835 NA NA 0.02824536 0.0617383 0.9930208 0.9480348 NA 0.04499183 NA FALSE NA 1 1.892 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 tolerated_low_confidence(0.16) benign(0.033) NA GGG G,C 1.647e-05 9:69476082 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 2.112317 0.98677 0.79446 0.554377 0.9777678 0 0.8658413 FALSE 8.12473e-06 ENSE00001089895_009 ENSE00001089895 009 9 72090932 72091101 - 32 96 42 G A 72091000 544 102 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCATCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476083 69476084 69476084 exon -37 0.625 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCATCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 566 25 1 1 1 0.9860417 1 0.9663862 0.9296835 NA NA 0.03361384 0.07031647 0.9930208 0.9480348 NA 0.05196515 NA FALSE NA 0.61 -0.315 . synonymous_variant LOW APBA1 HGNC 578 ENST00000265381 3/13 1 NA GGT G,A 8.236e-06 9:69476084 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 synonymous_variant 0.628279 0.78782 0.11139 0.554377 0.6848657 0 0.8658413 FALSE 4.0625e-06 ENSE00001089895_010 ENSE00001089895 010 9 72090932 72091101 - 32 96 42 G C 72091007 545 95 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATGTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476090 69476091 69476091 exon -44 0.5520833 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATGTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 1085 326 0.9123797 1 0.9561898 0.9860417 1 0.9663862 0.9296835 NA NA -0.05400647 0.07031647 0.9930208 0.9480348 NA 0.008154999 NA FALSE NA 1 2.943 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 tolerated(0.05) benign(0.106) NA AGA G,C 8.236e-06 9:69476091 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 2.054006 0.96588 0.78656 0.554377 0.9575648 0 0.8658413 FALSE 1.21888e-05 ENSE00001089895_011 ENSE00001089895 011 9 72090932 72091101 - 32 96 42 C T 72091013 546 89 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAACACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476096 69476097 69476097 exon 47 0.4895833 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAACACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 541 196 0.999433 0.9083114 0.9538722 0.9860417 1 0.9663862 0.9296835 NA NA 0.03304685 -0.02137213 0.9930208 0.9480348 NA 0.005837361 NA FALSE NA 0.918 2.472 rs143767519 missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 rs143767519 1 tolerated(0.21) benign(0.002) NA T:0 T:0.0001 GCT C,T 1.647e-05 9:69476097 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 1.342179 0.70325 0.69777 0.554377 0.9640361 0 0.8658413 FALSE 2.03183e-05 ENSE00001089895_012 ENSE00001089895 012 9 72090932 72091101 - 32 96 42 T C 72091014 547 88 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAGGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476097 69476098 69476098 exon 46 0.4791667 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAGGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 330 429 0.5083291 0.6146519 0.5614905 0.9860417 1 0.9663862 0.9296835 NA NA -0.4580571 -0.3150316 0.9930208 0.9480348 NA -0.3865443 NA FALSE NA 0.912 2.082 rs150818997 missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 rs150818997 1 tolerated(0.35) benign(0) NA C:0.0002 C:0 CTT T,C 8.236e-06 9:69476098 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant -0.612837 0.53577 0.61453 0.554377 0.6083915 0 0.8658413 FALSE 4.06316e-06 ENSE00001089895_013 ENSE00001089895 013 9 72090932 72091101 - 32 96 42 T C 72091018 548 84 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCGTCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476101 69476102 69476102 exon 42 0.4375 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCGTCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 125 142 1 1 1 0.9860417 1 0.9663862 0.9296835 NA NA 0.03361384 0.07031647 0.9930208 0.9480348 NA 0.05196515 NA FALSE NA 0.006 -1.293 . synonymous_variant LOW APBA1 HGNC 578 ENST00000265381 3/13 rs532505436 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATG T,C 8.236e-06 9:69476102 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 synonymous_variant 0.93936 0.95209 0.07642 0.554377 0.6992536 0 0.8658413 FALSE 4.06326e-06 ENSE00001089895_014 ENSE00001089895 014 9 72090932 72091101 - 32 96 42 G A 72091019 549 83 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTTATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476102 69476103 69476103 exon 41 0.4270833 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTTATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 71 698 1 0.9987842 0.9993921 0.9860417 1 0.9663862 0.9296835 NA NA 0.03361384 0.06910063 0.9930208 0.9480348 NA 0.05135723 NA FALSE NA 1 5.664 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 deleterious(0.03) benign(0.322) NA TGA G,A 0.0003789 9:69476103 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 4.317495 0.98687 0.94318 0.554377 0.9974244 0 0.8658413 FALSE 0.000434768 ENSE00001089895_015 ENSE00001089895 015 9 72090932 72091101 - 32 96 42 G A 72091033 550 69 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCTTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476116 69476117 69476117 exon 27 0.28125 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCTTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 1154 786 0.9984791 0.9820796 0.9902794 0.9860417 1 0.9663862 0.9296835 NA NA 0.03209292 0.0523961 0.9930208 0.9480348 NA 0.04224451 NA FALSE NA 1 0.876 . synonymous_variant LOW APBA1 HGNC 578 ENST00000265381 3/13 1 NA AGG G,A 8.236e-06 9:69476117 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 synonymous_variant 1.467946 0.97253 0.60783 0.554377 0.802939 0 0.8658413 FALSE 8.13802e-06 ENSE00001089895_018 ENSE00001089895 018 9 72090932 72091101 - 32 96 42 G A 72091036 553 66 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCTCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476119 69476120 69476120 exon 24 0.25 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCTCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 294 681 1 0.9682079 0.9841039 0.9860417 1 0.9663862 0.9296835 NA NA 0.03361384 0.03852433 0.9930208 0.9480348 NA 0.03606908 NA FALSE NA 0.046 -1.35 . synonymous_variant LOW APBA1 HGNC 578 ENST00000265381 3/13 COSM4139491 1 NA GGG G,A 8.236e-06 9:69476120 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 synonymous_variant 1.453899 0.35522 0.02897 0.554377 0.7581281 0 0.8658413 FALSE 4.0701e-06 ENSE00001089895_022 ENSE00001089895 022 9 72090932 72091101 - 32 96 42 A G 72091051 557 51 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCCCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476134 69476135 69476135 exon 9 0.09375 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCCCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 652 17 0.999684 1 0.999842 0.9860417 1 0.9663862 0.9296835 NA NA 0.03329781 0.07031647 0.9930208 0.9480348 NA 0.05180714 NA FALSE NA 1 1.86 . synonymous_variant LOW APBA1 HGNC 578 ENST00000265381 3/13 1 NA GAG A,G 8.236e-06 9:69476135 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 synonymous_variant 1.319683 0.98559 0.89198 0.554377 0.8073682 0 0.8658413 FALSE 4.07774e-06 ENSE00001089895_023 ENSE00001089895 023 9 72090932 72091101 - 32 96 42 C T 72091054 558 48 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCATCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476137 69476138 69476138 exon 6 0.0625 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCATCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 1325 531 0.9980513 1 0.9990257 0.9860417 1 0.9663862 0.9296835 NA NA 0.03166514 0.07031647 0.9930208 0.9480348 NA 0.0509908 NA FALSE NA 0.478 -0.701 . synonymous_variant LOW APBA1 HGNC 578 ENST00000265381 3/13 rs199574638 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 9.06e-05 9:69476138 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 synonymous_variant 2.749228 0.90799 0.03036 0.554377 0.784021 0 0.8658413 FALSE 7.35006e-05 ENSE00001089895_024 ENSE00001089895 024 9 72090932 72091101 - 32 96 42 G A 72091055 559 47 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCTGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476138 69476139 69476139 exon 5 0.05208333 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCTGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 723 370 0.9991431 0.9974266 0.9982849 0.9860417 1 0.9663862 0.9296835 NA NA 0.03275689 0.06774311 0.9930208 0.9480348 NA 0.05025 NA FALSE NA 1 7.442 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 deleterious(0.05) probably_damaging(0.946) NA CGG G,A 0.0001071 9:69476139 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 7.511655 0.99412 0.98221 0.554377 0.9987067 0 0.8658413 FALSE 9.79872e-05 ENSE00001089895_025 ENSE00001089895 025 9 72090932 72091101 - 32 96 42 G C 72091056 560 46 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTGCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476139 69476140 69476140 exon 4 0.04166667 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTGCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 262 2118 1 0.9994772 0.9997386 0.9860417 1 0.9663862 0.9296835 NA NA 0.03361384 0.06979368 0.9930208 0.9480348 NA 0.05170376 NA FALSE NA 1 7.442 . missense_variant MODERATE APBA1 HGNC 578 ENST00000265381 3/13 1 deleterious(0.02) possibly_damaging(0.876) NA GGA G,C 1.647e-05 9:69476140 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 4.501532 0.99447 0.98539 0.554377 0.9952885 0 0.8658413 FALSE 4.0818e-06 ENSE00001089895_026 ENSE00001089895 026 9 72090932 72091101 - 32 96 42 A T 72091082 561 20 GTCTCTCAAGTTCTCACTGAGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476165 69476166 69476166 upstr_intron -23 -0.5238095 GTCTCTCAAGTTCTCACTGAGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 279 1318 0.8448138 0.9170966 0.8809552 0.9860417 1 0.9663862 0.9296835 NA NA -0.1215724 -0.01258693 0.9930208 0.9480348 NA -0.06707965 NA FALSE NA 0 0.663 . intron_variant MODIFIER APBA1 HGNC 578 ENST00000265381 2/12 1 NA CAC A,T 0.0001977 9:69476166 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 intron_variant 0.582848 0.19692 0.11296 0.053691 0.8150841 0.406803 0.8658413 FALSE 0.000185316 ENSE00001090508_003 ENSE00001090508 003 9 86588773 86588942 - 44 72 54 G A 86588850 697 93 ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTTCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG 83973857 83974027 83973934 83973935 83973935 exon -34 0.5416667 ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTTCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG mutant NA NA NA NA NA 102 329 1 1 1 0.9849245 0.9611646 0.9282582 0.969536 NA NA 0.07174176 0.03046402 0.9730445 0.9488971 NA 0.05110289 NA FALSE NA 1 4.395 . upstream_gene_variant MODIFIER HNRNPK HGNC 5044 ENST00000481820 COSM3659229&COSM3659231&COSM3659230 1 NA GGA G,A 8.236e-06 9:83973935 HNRNPK HGNC Symbol protein_coding 12533 ENSG00000165119 ENSE00003507975 synonymous_variant 0.631477 0.93089 0.88663 0.722319 0.900676 0 0.9997824 TRUE 4.06375e-06 ENSE00001090508_015 ENSE00001090508 015 9 86588773 86588942 - 44 72 54 G A 86588930 709 13 ATAGCCTGATCATGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG 83973857 83974027 83974014 83974015 83974015 upstr_intron -42 -0.7592593 ATAGCCTGATCATGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG mutant NA NA NA NA NA 160 530 1 0.9996295 0.9998147 0.9849245 0.9611646 0.9282582 0.969536 NA NA 0.07174176 0.03009351 0.9730445 0.9488971 NA 0.05091763 NA FALSE NA 1 2.904 . upstream_gene_variant MODIFIER HNRNPK HGNC 5044 ENST00000481820 1 NA CGT G,A 1.647e-05 9:83974015 HNRNPK HGNC Symbol protein_coding 12533 ENSG00000165119 ENSE00003507975 intron_variant 2.278799 0.90766 0.80611 0.069865 0.8431857 0.836448 0.9997824 TRUE 1.24654e-05 ENSE00001094870_002 ENSE00001094870 002 10 13779808 13779977 - 36 87 47 T C 13779845 328 133 TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAGGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC 13737807 13737977 13737844 13737845 13737845 exon -2 0.9885057 TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAGGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC mutant NA NA NA NA NA 18 21 0.9533351 0.95 0.9516675 0.9962498 0.991598 0.9039271 0.9948704 NA NA 0.049408 -0.0448704 0.9939239 0.9493987 NA 0.0022688 NA FALSE NA 1 8.018 . missense_variant&splice_region_variant MODERATE FRMD4A HGNC 25491 ENST00000378503 11/23 1 tolerated(0.06) benign(0.37) NA CTT T,C 3.295e-05 10:13737845 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094870 missense_variant 3.567513 0.98804 0.97871 0.706298 0.9984103 0 0.9999865 TRUE 2.03293e-05 ENSE00001094870_010 ENSE00001094870 010 10 13779808 13779977 - 36 87 47 A C 13779941 336 37 TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTGGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC 13737807 13737977 13737940 13737941 13737941 upstr_intron -11 -0.212766 TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTGGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC mutant NA NA NA NA NA 160 364 0.9544838 0.9731177 0.9638008 0.9962498 0.991598 0.9039271 0.9948704 NA NA 0.05055676 -0.02175267 0.9939239 0.9493987 NA 0.01440205 NA FALSE NA 0.166 2.389 . intron_variant MODIFIER FRMD4A HGNC 25491 ENST00000378503 10/22 1 NA CAA A,C 8.363e-06 10:13737941 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094870 intron_variant -0.128442 0.28742 0.91956 0.093295 0.6768428 0.112358 0.9999865 TRUE 4.3907e-06 ENSE00001094870_012 ENSE00001094870 012 10 13779808 13779977 - 36 87 47 G A 13779948 338 30 TACTTCCTCCAGTCCCATATTCACCCAAATTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC 13737807 13737977 13737947 13737948 13737948 upstr_intron -18 -0.3617021 TACTTCCTCCAGTCCCATATTCACCCAAATTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC TACTTCCTCCAGTCCCATATTCACCCAAACTTTTTTTGATATCCTAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATCTTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGGTAAGGCTGGTCTCCTGCTTGGGTTTAACTCCTCTC mutant NA NA NA NA NA 2437 78 0.9984406 1 0.9992203 0.9962498 0.991598 0.9039271 0.9948704 NA NA 0.09451354 0.005129601 0.9939239 0.9493987 NA 0.04982157 NA FALSE NA 0 -0.321 . intron_variant MODIFIER FRMD4A HGNC 25491 ENST00000378503 10/22 1 NA AGT G,A 1.647e-05 10:13737948 FRMD4A HGNC Symbol protein_coding 818436 ENSG00000151474 ENSE00001094870 intron_variant 0.021755 0.164 0.03053 0.093295 0.4840094 0.0656782 0.9999865 TRUE 1.2268e-05 ENSE00001096585_001 ENSE00001096585 001 14 21463995 21464164 + 65 51 54 A G 21464017 92 23 AGAGATTGAATTATGAAAATAGGCCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995857 20995858 20995858 upstr_intron -43 -0.6461538 AGAGATTGAATTATGAAAATAGGCCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 359 1709 0.9918655 0.9976729 0.9947692 NA NA 1 0.9997263 NA NA -0.008134506 -0.002053427 NA 0.9998631 NA -0.005093966 NA FALSE NA 0 -0.418 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 rs377620929 1 NA G:0.0011 G:0 GAC A,G 4.942e-05 14:20995858 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 non_coding_transcript_exon_variant 0.147971 0.15507 0.02133 0.295142 0.6474053 0.0736832 5.780595e-08 FALSE 2.84863e-05 ENSE00001096585_003 ENSE00001096585 003 14 21463995 21464164 + 65 51 54 C T 21464030 94 36 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGTTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995870 20995871 20995871 upstr_intron -30 -0.4461538 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGTTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 26 288 0.9811802 1 0.9905901 NA NA 1 0.9997263 NA NA -0.01881979 0.0002737177 NA 0.9998631 NA -0.009273034 NA FALSE NA 0 -0.14 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 1 NA GCT C,T 8.236e-06 14:20995871 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 non_coding_transcript_exon_variant 0.330535 0.18754 0.05192 0.295142 0.5864502 0.0736832 5.780595e-08 FALSE 4.0625e-06 ENSE00001096585_005 ENSE00001096585 005 14 21463995 21464164 + 65 51 54 A C 21464034 96 40 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTCTTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995874 20995875 20995875 upstr_intron -26 -0.3846154 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTCTTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 504 827 0.9978648 0.9958413 0.996853 NA NA 1 0.9997263 NA NA -0.002135233 -0.003884956 NA 0.9998631 NA -0.003010094 NA FALSE NA 0 -0.691 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 1 NA TAT A,C 8.236e-06 14:20995875 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 non_coding_transcript_exon_variant 0.48791 0.21947 0.09849 0.295142 0.8204738 0.178139 5.780595e-08 FALSE 4.0619e-06 ENSE00001096585_006 ENSE00001096585 006 14 21463995 21464164 + 65 51 54 C A 21464038 97 44 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTATTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995878 20995879 20995879 upstr_intron -22 -0.3230769 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTATTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 3225 1408 0.998936 0.9935366 0.9962363 NA NA 1 0.9997263 NA NA -0.001063983 -0.006189689 NA 0.9998631 NA -0.003626836 NA FALSE NA 0.108 0.363 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 10/12 1 NA TCT C,A 8.236e-06 14:20995879 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 non_coding_transcript_exon_variant 0.853182 0.19732 0.05929 0.295142 0.7069396 0.178139 5.780595e-08 FALSE 4.06157e-06 ENSE00001096585_007 ENSE00001096585 007 14 21463995 21464164 + 65 51 54 G C 21464052 98 58 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTCATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995892 20995893 20995893 upstr_intron -8 -0.1076923 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTCATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 893 808 1 1 1 NA NA 1 0.9997263 NA NA 0 0.0002737177 NA 0.9998631 NA 0.0001368589 NA FALSE NA 0 -0.244 . splice_region_variant&intron_variant&NMD_transcript_variant LOW METTL17 HGNC 19280 ENST00000555533 10/12 1 NA TGA G,C 8.236e-06 14:20995893 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 splice_region_variant 1.135033 0.18645 0.05168 0.295142 0.7043211 0.257814 5.780595e-08 FALSE 4.06101e-06 ENSE00001096585_008 ENSE00001096585 008 14 21463995 21464164 + 65 51 54 A G 21464067 99 73 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGGGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995907 20995908 20995908 exon 8 0.1568627 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGGGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 767 730 1 1 1 NA NA 1 0.9997263 NA NA 0 0.0002737177 NA 0.9998631 NA 0.0001368589 NA FALSE NA 1 4.768 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 1 NA GAG A,G 8.236e-06 14:20995908 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 missense_variant 5.093752 0.98653 0.97199 0.706548 0.9988884 0 5.780595e-08 FALSE NA ENSE00001096585_009 ENSE00001096585 009 14 21463995 21464164 + 65 51 54 A G 21464070 100 76 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAGGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995910 20995911 20995911 exon 11 0.2156863 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAGGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 1408 145 0.9340863 0.9905551 0.9623207 NA NA 1 0.9997263 NA NA -0.06591366 -0.009171176 NA 0.9998631 NA -0.03754242 NA FALSE NA 1 4.768 rs142555446 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 rs142555446 1 NA G:0 G:0.0009 AAG A,G 0.0004283 14:20995911 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 missense_variant 5.999399 0.98629 0.97187 0.706548 0.9990508 0 5.780595e-08 FALSE 0.000393886 ENSE00001096585_010 ENSE00001096585 010 14 21463995 21464164 + 65 51 54 A G 21464074 101 80 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCGCCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995914 20995915 20995915 exon 15 0.2941176 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCGCCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 1224 100 0.9974163 0.9956731 0.9965447 NA NA 1 0.9997263 NA NA -0.002583652 -0.004053166 NA 0.9998631 NA -0.003318409 NA FALSE NA 0.333 -0.065 rs150965334 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 rs150965334 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAC A,G 9.884e-05 14:20995915 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 synonymous_variant 1.546927 0.2751 0.04953 0.706548 0.6938618 0 5.780595e-08 FALSE 0.00017055 ENSE00001096585_011 ENSE00001096585 011 14 21463995 21464164 + 65 51 54 C T 21464075 102 81 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCATCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995915 20995916 20995916 exon 16 0.3137255 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCATCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 373 295 0.9871294 1 0.9935647 NA NA 1 0.9997263 NA NA -0.01287061 0.0002737177 NA 0.9998631 NA -0.006298444 NA FALSE NA 0.371 1.686 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 rs369657268 1 NA T:0 T:0.0001 ACC C,T 3.295e-05 14:20995916 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 missense_variant 3.104612 0.40825 0.23523 0.706548 0.9956347 0 5.780595e-08 FALSE 3.6547e-05 ENSE00001096585_012 ENSE00001096585 012 14 21463995 21464164 + 65 51 54 C T 21464084 103 90 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACTCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995924 20995925 20995925 exon 25 0.4901961 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACTCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 1057 546 0.9755292 0.9995704 0.9875498 NA NA 1 0.9997263 NA NA -0.02447078 -0.0001558793 NA 0.9998631 NA -0.01231333 NA FALSE NA 0.946 1.154 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 1 NA CCC C,T 1.647e-05 14:20995925 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 missense_variant 2.421764 0.97412 0.84785 0.706548 0.8956989 0 5.780595e-08 FALSE 8.1215e-06 ENSE00001096585_013 ENSE00001096585 013 14 21463995 21464164 + 65 51 54 T C 21464086 104 92 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCCCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995926 20995927 20995927 exon -25 0.5294118 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCCCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 935 452 0.9951929 0.9956317 0.9954123 NA NA 1 0.9997263 NA NA -0.004807109 -0.004094607 NA 0.9998631 NA -0.004450858 NA FALSE NA 0.869 0.155 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 1 NA CTC T,C 8.236e-06 14:20995927 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 synonymous_variant 1.930464 0.95902 0.49994 0.706548 0.8081852 0 5.780595e-08 FALSE 4.06075e-06 ENSE00001096585_015 ENSE00001096585 015 14 21463995 21464164 + 65 51 54 C T 21464090 106 96 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGATCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995930 20995931 20995931 exon -21 0.6078431 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGATCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 46 820 1 0.9939249 0.9969624 NA NA 1 0.9997263 NA NA 0 -0.00580142 NA 0.9998631 NA -0.00290071 NA FALSE NA 0.908 1.66 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 1 NA ACC C,T 1.647e-05 14:20995931 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 missense_variant 5.014445 0.98797 0.88385 0.706548 0.9992645 0 5.780595e-08 FALSE 8.12137e-06 ENSE00001096585_016 ENSE00001096585 016 14 21463995 21464164 + 65 51 54 T C 21464100 107 106 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGCCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995940 20995941 20995941 exon -11 0.8039216 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGCCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant 17 16 0.9304472 0.85 0.8902236 427 617 0.9320436 0.9885509 0.9602972 NA NA 1 0.9997263 NA NA -0.06795644 -0.01117535 NA 0.9998631 NA -0.0395659 NA FALSE NA 1 4.113 rs111441403 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 rs111441403 1 NA C:0.0007 C:0 GTC T,C 3.295e-05 14:20995941 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 missense_variant 4.820568 0.9855 0.95712 0.706548 0.9989679 0 5.780595e-08 FALSE 3.2486e-05 ENSE00001096585_017 ENSE00001096585 017 14 21463995 21464164 + 65 51 54 T C 21464104 108 110 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTCGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995944 20995945 20995945 exon -7 0.8823529 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTCGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 171 774 1 0.9971422 0.9985711 NA NA 1 0.9997263 NA NA 0 -0.002584075 NA 0.9998631 NA -0.001292037 NA FALSE NA 1 1.222 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 rs374227907 1 NA C:0.0002 C:0 TTG T,C 8.236e-06 14:20995945 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 synonymous_variant 1.812638 0.97614 0.86653 0.706548 0.7758789 0 5.780595e-08 FALSE 4.06068e-06 ENSE00001096585_018 ENSE00001096585 018 14 21463995 21464164 + 65 51 54 C G 21464106 109 112 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGGCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995946 20995947 20995947 exon -5 0.9215686 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGGCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 357 155 0.998725 0.9989783 0.9988517 NA NA 1 0.9997263 NA NA -0.001274978 -0.0007479943 NA 0.9998631 NA -0.001011486 NA FALSE NA 1 4.006 rs145785990 3_prime_UTR_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/13 rs145785990 1 NA G:0 G:0.0001 GCC C,G 1.647e-05 14:20995947 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 missense_variant 6.449596 0.98832 0.96687 0.706548 0.9977736 0 5.780595e-08 FALSE 2.43653e-05 ENSE00001096585_019 ENSE00001096585 019 14 21463995 21464164 + 65 51 54 C T 21464108 110 114 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCTCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995948 20995949 20995949 exon -3 0.9607843 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCTCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 1785 140 0.9985538 0.9284927 0.9635233 NA NA 1 0.9997263 NA NA -0.001446156 -0.07123361 NA 0.9998631 NA -0.03633988 NA FALSE NA 0.986 4.006 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW METTL17 HGNC 19280 ENST00000555533 11/13 1 NA CCC C,T 8.236e-06 14:20995949 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 missense_variant 6.076596 0.98573 0.95465 0.706548 0.9992125 0 5.780595e-08 FALSE 4.06088e-06 ENSE00001096585_020 ENSE00001096585 020 14 21463995 21464164 + 65 51 54 T C 21464129 111 135 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCCGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995969 20995970 20995970 downstr_intron 19 1.358491 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCCGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 254 1339 0.9919834 0.9521859 0.9720847 NA NA 1 0.9997263 NA NA -0.008016563 -0.04754039 NA 0.9998631 NA -0.02777848 NA FALSE NA 0.06 1.769 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/12 rs554251552 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 CTG T,C 8.236e-06 14:20995970 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 3_prime_UTR_variant 0.298274 0.29584 0.2027 0.156188 0.6166546 0.0565571 5.780595e-08 FALSE NA ENSE00001096585_021 ENSE00001096585 021 14 21463995 21464164 + 65 51 54 G A 21464130 112 136 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTATCCCACCACACGGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995970 20995971 20995971 downstr_intron 20 1.377358 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTATCCCACCACACGGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 329 1026 0.9938051 0.9967063 0.9952557 NA NA 1 0.9997263 NA NA -0.006194863 -0.003020022 NA 0.9998631 NA -0.004607442 NA FALSE NA 0.003 -0.075 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/12 1 NA TGT G,A 8.236e-06 14:20995971 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 3_prime_UTR_variant 0.487778 0.18249 0.0423 0.156188 0.7760805 0.0565571 5.780595e-08 FALSE 4.06138e-06 ENSE00001096585_024 ENSE00001096585 024 14 21463995 21464164 + 65 51 54 G A 21464142 115 148 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACAGATCTGAACTTAGGCGTGGCCG 20995835 20996005 20995982 20995983 20995983 downstr_intron 32 1.603774 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACAGATCTGAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 457 877 1 0.9996085 0.9998042 NA NA 1 0.9997263 NA NA 0 -0.0001177891 NA 0.9998631 NA -5.889456e-05 NA FALSE NA 0 -0.058 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/12 1 NA CGG G,A 1.647e-05 14:20995983 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 3_prime_UTR_variant 0.44712 0.08836 0.00039 0.295142 0.7276779 0.0565571 5.780595e-08 FALSE 1.2191e-05 ENSE00001096585_025 ENSE00001096585 025 14 21463995 21464164 + 65 51 54 G A 21464148 116 154 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTAAACTTAGGCGTGGCCG 20995835 20996005 20995988 20995989 20995989 downstr_intron 38 1.716981 AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTAAACTTAGGCGTGGCCG AGAGATTGAATTATGAAAATAGACCCTTGGCCCAGCTTTATTTCTTTTATTTCCTTTGATTTCAGGGAAAAGAGAAGTCACCTTTGGACCCTCGACCTGGTTTTGTCTTTGCCCCGGTGAGTATTACTTCTGCCTGTCCCACCACACGGATCTGAACTTAGGCGTGGCCG mutant NA NA NA NA NA 822 86 0.9040996 0.9364613 0.9202804 NA NA 1 0.9997263 NA NA -0.09590044 -0.06326503 NA 0.9998631 NA -0.07958274 NA FALSE NA 0 -0.103 . intron_variant&NMD_transcript_variant MODIFIER METTL17 HGNC 19280 ENST00000555533 11/12 1 NA TGA G,A 8.236e-06 14:20995989 METTL17 HGNC Symbol protein_coding 7265 ENSG00000165792 ENSE00003483715 3_prime_UTR_variant 0.573112 0.22571 0.03674 0.295142 0.8176196 0.0565571 5.780595e-08 FALSE 8.1279e-06 ENSE00001098801_001 ENSE00001098801 001 10 18807215 18807384 + 50 81 39 G A 18807238 434 24 TATGTTCTACCTGCCTGTGAAACATCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518308 18518309 18518309 upstr_intron -27 -0.52 TATGTTCTACCTGCCTGTGAAACATCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 157 833 0.9962715 0.994126 0.9951987 NA NA 0.9938978 0.9392843 NA NA 0.002373609 0.05484169 NA 0.9665911 NA 0.02860765 NA FALSE NA 0 -1.297 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA CGT G,A 1.647e-05 10:18518309 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 intron_variant 0.080253 0.11477 0.01163 0.078448 0.7677155 0.0612813 0.001820338 FALSE 8.14445e-06 ENSE00001098801_002 ENSE00001098801 002 10 18807215 18807384 + 50 81 39 C G 18807248 435 34 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCGTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518318 18518319 18518319 upstr_intron -17 -0.32 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCGTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 183 269 0.9703329 0.9820554 0.9761941 NA NA 0.9938978 0.9392843 NA NA -0.02356495 0.04277102 NA 0.9665911 NA 0.009603035 NA FALSE NA 0 -0.381 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA CCT C,G 8.236e-06 10:18518319 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 intron_variant 0.705115 0.21814 0.03079 0.078448 0.5934029 0.281689 0.001820338 FALSE 4.07034e-06 ENSE00001098801_004 ENSE00001098801 004 10 18807215 18807384 + 50 81 39 C T 18807253 437 39 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCTTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518323 18518324 18518324 upstr_intron -12 -0.22 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCTTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 27 167 1 1 1 NA NA 0.9938978 0.9392843 NA NA 0.006102153 0.06071565 NA 0.9665911 NA 0.0334089 NA FALSE NA 0.93 0.417 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA CCT C,T 1.647e-05 10:18518324 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 intron_variant 1.35536 0.97516 0.90558 0.078448 0.8193603 0.41536 0.001820338 FALSE 8.14007e-06 ENSE00001098801_008 ENSE00001098801 008 10 18807215 18807384 + 50 81 39 C T 18807262 441 48 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGTAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518332 18518333 18518333 upstr_intron -3 -0.04 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGTAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 421 256 0.003497992 0.009975935 0.006736963 NA NA 0.9938978 0.9392843 NA NA -0.9903999 -0.9293084 NA 0.9665911 NA -0.9598541 NA TRUE NA 0.975 2.181 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA GCA C,T 8.236e-06 10:18518333 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 splice_region_variant 2.221561 0.98696 0.92124 0.078448 0.920632 0.830014 0.001820338 FALSE 0.000170936 ENSE00001098801_011 ENSE00001098801 011 10 18807215 18807384 + 50 81 39 C T 18807281 444 67 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCTGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518351 18518352 18518352 exon 17 0.2098765 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCTGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 1092 34 0.8 0.8 0.8 NA NA 0.9938978 0.9392843 NA NA -0.1938978 -0.1392843 NA 0.9665911 NA -0.1665911 NA FALSE NA 1 7.812 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA CCG C,T 8.236e-06 10:18518352 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 missense_variant 7.03569 0.99603 0.99342 0.553676 0.9982758 0 0.001820338 FALSE 1.22069e-05 ENSE00001098801_015 ENSE00001098801 015 10 18807215 18807384 + 50 81 39 C T 18807331 448 117 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTTTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518401 18518402 18518402 exon -15 0.8271605 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTTTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 334 412 0.998137 0.9948508 0.9964939 NA NA 0.9938978 0.9392843 NA NA 0.00423915 0.05556644 NA 0.9665911 NA 0.02990279 NA FALSE NA 0.955 2.009 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA TCT C,T 8.236e-06 10:18518402 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 synonymous_variant 1.722173 0.98254 0.89243 0.553676 0.7515114 0 0.001820338 FALSE 4.07126e-06 ENSE00001098801_018 ENSE00001098801 018 10 18807215 18807384 + 50 81 39 A G 18807341 451 127 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTGCGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518411 18518412 18518412 exon -5 0.9506173 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTGCGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 418 200 0.9569462 0.9885942 0.9727702 NA NA 0.9938978 0.9392843 NA NA -0.03695164 0.04930987 NA 0.9665911 NA 0.006179115 NA FALSE NA 1 9.343 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA TAC A,G 4.118e-05 10:18518412 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 missense_variant 5.651621 0.99451 0.9977 0.614807 0.998123 0 0.001820338 FALSE 2.03639e-05 ENSE00001098801_020 ENSE00001098801 020 10 18807215 18807384 + 50 81 39 G T 18807349 453 135 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGTGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518419 18518420 18518420 downstr_intron 4 1.105263 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGTGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 32 169 0 0 0 NA NA 0.9938978 0.9392843 NA NA -0.9938978 -0.9392843 NA 0.9665911 NA -0.9665911 NA TRUE NA 1 1.139 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA GGG G,T 8.236e-06 10:18518420 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 splice_region_variant 0.636837 0.57166 0.73935 0.078448 0.7879932 0.166814 0.001820338 FALSE NA ENSE00001098801_023 ENSE00001098801 023 10 18807215 18807384 + 50 81 39 C T 18807357 456 143 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGTCTTCCACAGGAAGCTTAACTTGCATGC 18518285 18518455 18518427 18518428 18518428 downstr_intron 12 1.315789 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGTCTTCCACAGGAAGCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 397 489 0.9975911 1 0.9987956 NA NA 0.9938978 0.9392843 NA NA 0.003693267 0.06071565 NA 0.9665911 NA 0.03220446 NA FALSE NA 0 1.078 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA GCC C,T 8.236e-06 10:18518428 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 intron_variant 0.097093 0.24253 0.07289 0.078448 0.491896 0.0662374 0.001820338 FALSE 4.0783e-06 ENSE00001098801_025 ENSE00001098801 025 10 18807215 18807384 + 50 81 39 G C 18807370 458 156 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAACCTTAACTTGCATGC 18518285 18518455 18518440 18518441 18518441 downstr_intron 25 1.657895 TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAACCTTAACTTGCATGC TATGTTCTACCTGCCTGTGAAACGTCTAAAAGCCTCTCCTCTCTCTGCAGACAGAGCACACTCCTCCGTATGATGTGGTACCTTCCATGCGACCAGTGGTCCTAGTGGGCCCTTCTCTGAAGGGCTACGAGGTGGGTAGCAGCCTTCCACAGGAAGCTTAACTTGCATGC mutant NA NA NA NA NA 87 220 1 0.9920068 0.9960034 NA NA 0.9938978 0.9392843 NA NA 0.006102153 0.05272246 NA 0.9665911 NA 0.02941231 NA FALSE NA 0 0.361 . intron_variant MODIFIER CACNB2 HGNC 1402 ENST00000377328 4/6 1 NA AGC G,C 8.236e-06 10:18518441 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001098801 intron_variant -0.408226 0.23432 0.02436 0.078448 0.422785 0.0662374 0.001820338 FALSE 4.08714e-06 ENSE00001100892_001 ENSE00001100892 001 11 43940547 43940716 + 41 99 30 T C 43940566 1019 20 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTGATAAATGTTTTGCCTGTGT 43918996 43919166 43919015 43919016 43919016 upstr_intron -22 -0.5121951 ACACAGGCAAAACATTTATCACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant 34 71 0.9953754 0.9891706 0.992273 697 595 0.9993062 0.9763134 0.9878098 0.9921889 0.9941781 0.9710338 0.9939405 0.003186492 -0.005007468 0.02827235 -0.01762706 0.9931835 0.9824871 -0.0009104881 0.005322646 0.006233134 FALSE FALSE 0 0.056 rs7926534 intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 rs7926534 1 T:0.1569 C:0.6165 C:0.866 NA C:0.9752 C:0.8966 C:0.9417 C:0.6736 C:0.8967 TTA C,C 0.889 11:43919016 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 non_coding_transcript_exon_variant 0.061261 0.1736 0.01052 0.295142 0.5263842 0.049039 NA NA 0.893202 ENSE00001100892_002 ENSE00001100892 002 11 43940547 43940716 + 41 99 30 A G 43940573 1020 27 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATCTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919022 43919023 43919023 upstr_intron -15 -0.3414634 ACACAGGCAAAACATTTATTACAACAGATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant 40 29 0.9956686 0.9833283 0.9894985 397 1533 0.9921882 0.999477 0.9958326 0.9921889 0.9941781 0.9710338 0.9939405 0.003479645 -0.01084975 0.02115441 0.00553648 0.9931835 0.9824871 -0.003685053 0.01334544 0.0170305 FALSE FALSE 0.233 1.352 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA AAA A,G 8.236e-06 11:43919023 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 non_coding_transcript_exon_variant 0.56344 0.20196 0.3683 0.295142 0.7618077 0.149743 NA NA 4.08267e-06 ENSE00001100892_003 ENSE00001100892 003 11 43940547 43940716 + 41 99 30 T G 43940575 1021 29 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCCTTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919024 43919025 43919025 upstr_intron -13 -0.2926829 ACACAGGCAAAACATTTATTACAACAAAGGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant 21 17 1 0.9965427 0.9982713 1319 2362 0.9974495 0.9987802 0.9981149 0.9921889 0.9941781 0.9710338 0.9939405 0.00781105 0.002364623 0.02641573 0.004839738 0.9931835 0.9824871 0.005087837 0.01562774 0.0105399 FALSE FALSE 0.98 0.998 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA ATG T,G 8.236e-06 11:43919025 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 non_coding_transcript_exon_variant 1.457034 0.2998 0.63985 0.295142 0.8181128 0.149743 NA NA 8.16327e-06 ENSE00001100892_005 ENSE00001100892 005 11 43940547 43940716 + 41 99 30 A G 43940595 1023 49 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCACTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919044 43919045 43919045 exon 8 0.08080808 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAGTGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 476 905 0.9999135 0.9964755 0.9981945 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.0288797 0.002535007 0.9931835 0.9824871 NA 0.01570736 NA FALSE NA 1 3.57 rs149613620 intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 rs149613620 1 G:0.0006 G:0 G:0.0014 NA G:0 G:0 G:0.002 G:0.0002 G:0.0021 AAT A,G 0.002339 11:43919045 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 missense_variant 2.207821 0.97064 0.85244 0.706548 0.9930121 0 NA NA 0.00197747 ENSE00001100892_006 ENSE00001100892 006 11 43940547 43940716 + 41 99 30 C G 43940602 1024 56 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTACTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919051 43919052 43919052 exon 15 0.1515152 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGAGTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 391 156 0.9819975 0.997967 0.9899822 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.01096373 0.004026478 0.9931835 0.9824871 NA 0.007495102 NA FALSE NA 1 2.59 rs2434470 intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 rs1130290&COSM1127789 1 G:0.1390 G:0.0802 G:0.1398 NA G:0.0933 G:0.2575 G:0.1431 G:0.0978 G:0.261 ACT C,G 0.198 11:43919052 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 missense_variant 6.838484 0.9886 0.9512 0.706298 0.9971111 0 NA NA 0.196661 ENSE00001100892_007 ENSE00001100892 007 11 43940547 43940716 + 41 99 30 A G 43940608 1025 62 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATACGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919057 43919058 43919058 exon 21 0.2121212 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACGTATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 486 674 0.9987229 0.9999435 0.9993332 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.02768906 0.006003032 0.9931835 0.9824871 NA 0.01684604 NA FALSE NA 0 -6.503 rs114994242 intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 rs114994242 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 CAT A,G 1.647e-05 11:43919058 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 synonymous_variant -0.425183 0.03087 0.00689 0.706298 0.6056547 0 NA NA 8.12843e-06 ENSE00001100892_008 ENSE00001100892 008 11 43940547 43940716 + 41 99 30 A G 43940618 1026 72 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCCTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919067 43919068 43919068 exon 31 0.3131313 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAGGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant 26 23 0.9985406 0.9978203 0.9981805 127 253 1 1 1 0.9921889 0.9941781 0.9710338 0.9939405 0.006351677 0.003642274 0.02896619 0.006059516 0.9931835 0.9824871 0.004996975 0.01751285 0.01251588 FALSE FALSE 0.385 1.256 rs144890252 intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 rs144890252 1 NA G:0.0002 G:0 AAG A,G 1.647e-05 11:43919068 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 missense_variant 4.026012 0.94965 0.35095 0.706298 0.9969341 0 NA NA 8.12724e-06 ENSE00001100892_010 ENSE00001100892 010 11 43940547 43940716 + 41 99 30 T C 43940641 1028 95 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCGTGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919090 43919091 43919091 exon -46 0.5454545 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCACGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant 41 23 1 0.9995201 0.99976 2397 1617 0.9986989 0.9974899 0.9980944 0.9921889 0.9941781 0.9710338 0.9939405 0.00781105 0.005341991 0.02766507 0.00354937 0.9931835 0.9824871 0.00657652 0.01560722 0.009030697 FALSE FALSE 0.091 -0.122 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA ATG T,C 1.647e-05 11:43919091 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 synonymous_variant 0.080903 0.86804 0.25843 0.706298 0.6803944 0 NA NA NA ENSE00001100892_011 ENSE00001100892 011 11 43940547 43940716 + 41 99 30 G T 43940644 1029 98 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTACCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919093 43919094 43919094 exon -43 0.5757576 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGTACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 389 734 0.8187657 0.9980051 0.9083854 0.9921889 0.9941781 0.9710338 0.9939405 NA NA -0.1522681 0.004064611 0.9931835 0.9824871 NA -0.07410175 NA FALSE NA 0.998 0.149 rs1048928 intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 rs1048928 1 G:0.3838 T:0.2958 T:0.6542 NA T:0.8373 T:0.6243 T:0.7863 T:0.3622 T:0.6242 GGA G,T 0.651 11:43919094 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 synonymous_variant 0.803974 0.96145 0.78431 0.706298 0.7963797 0 NA NA 0.659439 ENSE00001100892_012 ENSE00001100892 012 11 43940547 43940716 + 41 99 30 C A 43940646 1030 100 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGTTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919095 43919096 43919096 exon -41 0.5959596 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGAACTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 364 154 0.9998869 1 0.9999434 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.02885308 0.006059516 0.9931835 0.9824871 NA 0.0174563 NA FALSE NA 1 4.383 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA ACC C,A 8.236e-06 11:43919096 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 missense_variant 6.360986 0.98804 0.9641 0.706298 0.9933598 0 NA NA 4.06352e-06 ENSE00001100892_013 ENSE00001100892 013 11 43940547 43940716 + 41 99 30 C G 43940656 1031 110 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATCATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919105 43919106 43919106 exon -31 0.6969697 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATGATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 780 825 0.9785378 0.9940102 0.986274 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.007503943 6.975628e-05 0.9931835 0.9824871 NA 0.00378685 NA FALSE NA 1 1.002 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA TCA C,G 8.236e-06 11:43919106 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 missense_variant 2.138575 0.97046 0.6292 0.706298 0.9733456 0 NA NA 4.06372e-06 ENSE00001100892_014 ENSE00001100892 014 11 43940547 43940716 + 41 99 30 T C 43940658 1032 112 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCGTGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919107 43919108 43919108 exon -29 0.7171717 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCACGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 2264 2072 0.9920305 0.9994575 0.995744 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.02099669 0.005517063 0.9931835 0.9824871 NA 0.01325688 NA FALSE NA 1 6.211 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA ATG T,C 8.236e-06 11:43919108 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 missense_variant 5.546417 0.98442 0.96635 0.706298 0.9936307 0 NA NA NA ENSE00001100892_015 ENSE00001100892 015 11 43940547 43940716 + 41 99 30 G A 43940664 1033 118 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTTCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919113 43919114 43919114 exon -23 0.7777778 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGAAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 474 495 0.9999131 1 0.9999566 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.02887934 0.006059516 0.9931835 0.9824871 NA 0.01746943 NA FALSE NA 1 7.631 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 rs371456608 1 NA A:0 A:0.0001 GGA G,A 8.236e-06 11:43919114 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 missense_variant 6.529755 0.98747 0.97884 0.719381 0.9978973 0 NA NA 4.06412e-06 ENSE00001100892_016 ENSE00001100892 016 11 43940547 43940716 + 41 99 30 C T 43940667 1034 121 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTCACTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919116 43919117 43919117 exon -20 0.8080808 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGTGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 328 643 0.9858816 0.9994059 0.9926438 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.01484777 0.005465448 0.9931835 0.9824871 NA 0.01015661 NA FALSE NA 0.999 4.353 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA GCG C,T 8.236e-06 11:43919117 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 missense_variant 7.327547 0.97478 0.92963 0.719381 0.9987054 0 NA NA 1.2196e-05 ENSE00001100892_017 ENSE00001100892 017 11 43940547 43940716 + 41 99 30 G A 43940668 1035 122 AGCAGATTCATATTACTTGCAGATCCTCACCTGCCAGTCAGCTTGTGTTGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919117 43919118 43919118 exon -19 0.8181818 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCAACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 224 752 1 0.9999494 0.9999747 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.02896619 0.006008892 0.9931835 0.9824871 NA 0.01748754 NA FALSE NA 0 -4.822 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 COSM926920 1 NA CGA G,A 8.236e-06 11:43919118 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 synonymous_variant 1.255453 0.11042 0.01566 0.719381 0.6797516 0 NA NA 1.62615e-05 ENSE00001100892_019 ENSE00001100892 019 11 43940547 43940716 + 41 99 30 G A 43940689 1037 143 AGCAGATTCATATTACTTGCAGATCCTTACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919138 43919139 43919139 downstr_intron 3 1.103448 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTAAGGATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant NA NA NA NA NA 547 3259 0.978891 0.9962347 0.9875628 0.9921889 0.9941781 0.9710338 0.9939405 NA NA 0.007857175 0.002294202 0.9931835 0.9824871 NA 0.005075689 NA FALSE NA 1 0.486 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA TGA G,A 8.236e-06 11:43919139 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 splice_region_variant 1.514788 0.95666 0.69374 0.099367 0.7188883 0.444214 NA NA 4.0705e-06 ENSE00001100892_020 ENSE00001100892 020 11 43940547 43940716 + 41 99 30 G A 43940692 1038 146 AGCAGATTCATATTACTTGCAGATTCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919141 43919142 43919142 downstr_intron 6 1.206897 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGAATCTGCAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant 37 57 0.9835494 0.9466135 0.9650815 487 5223 0.9554536 0.9735523 0.964503 0.9921889 0.9941781 0.9710338 0.9939405 -0.00863956 -0.04756455 -0.01558018 -0.02038815 0.9931835 0.9824871 -0.02810206 -0.01798416 0.01011789 FALSE FALSE 0.046 0.475 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA GGA G,A 8.236e-06 11:43919142 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 splice_region_variant 0.511464 0.16438 0.01544 0.099367 0.6935267 0.119516 NA NA 4.07196e-06 ENSE00001100892_021 ENSE00001100892 021 11 43940547 43940716 + 41 99 30 C G 43940698 1039 152 AGCAGATTCATATTACTTCCAGATCCTCACCTGCCAGTCAGCTTGTGTCGCTCCTTCCATGATTAACAAGGTCCCATGATCCAAGGGTATCTTCACTCTTTCCACATATGTGTAGTCTCCATTCTCTTCCTAGAAAACAGCATTTGTTGTAATAAATGTTTTGCCTGTGT 43918996 43919166 43919147 43919148 43919148 downstr_intron 12 1.413793 ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGGAAGTAATATGAATCTGCT ACACAGGCAAAACATTTATTACAACAAATGCTGTTTTCTAGGAAGAGAATGGAGACTACACATATGTGGAAAGAGTGAAGATACCCTTGGATCATGGGACCTTGTTAATCATGGAAGGAGCGACACAAGCTGACTGGCAGGTGAGGATCTGCAAGTAATATGAATCTGCT mutant 23 19 1 1 1 1055 1747 0.9980639 0.9720863 0.9850751 0.9921889 0.9941781 0.9710338 0.9939405 0.00781105 0.00582193 0.02703012 -0.02185421 0.9931835 0.9824871 0.00681649 0.002587955 0.004228535 FALSE FALSE 0 -0.236 . intron_variant&non_coding_transcript_variant MODIFIER ALKBH3-AS1 HGNC 48670 ENST00000528285 3/3 1 NA GCA C,G 8.236e-06 11:43919148 ALKBH3-AS1 HGNC Symbol antisense 11652 ENSG00000244926 ENSE00003477134 intron_variant 0.314187 0.21297 0.09128 0.099367 0.6003529 0.0483553 NA NA 4.07471e-06 ENSE00001102151_001 ENSE00001102151 001 10 75003565 75003734 - 36 87 47 T C 75003576 1712 159 ATCATTAAAGACGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243817 73243818 73243818 downstr_intron 25 1.714286 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACGTCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 141 1077 1 0.9966077 0.9983039 0.9991508 1 0.9912846 0.9893721 NA NA 0.008715389 0.007235571 0.9995754 0.9903284 NA 0.00797548 NA FALSE NA 0 -0.344 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA ATG T,C 1.647e-05 10:73243818 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 3_prime_UTR_variant -0.000656 0.1474 0.02494 0.069865 0.5427979 0.0852963 0.5470065 FALSE NA ENSE00001102151_002 ENSE00001102151 002 10 75003565 75003734 - 36 87 47 G A 75003579 1713 156 ATCATTAAAGATGTAGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243820 73243821 73243821 downstr_intron 22 1.628571 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCTACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 560 604 0.9888473 0.990803 0.9898251 0.9991508 1 0.9912846 0.9893721 NA NA -0.002437348 0.001430865 0.9995754 0.9903284 NA -0.0005032415 NA FALSE NA 0 -0.528 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA TGG G,A 8.236e-06 10:73243821 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 3_prime_UTR_variant 0.207843 0.13175 0.01911 0.069865 0.5818754 0.0852963 0.5470065 FALSE 4.19604e-06 ENSE00001102151_005 ENSE00001102151 005 10 75003565 75003734 - 36 87 47 T G 75003602 1716 133 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCGGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243843 73243844 73243844 exon -2 0.9885057 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCCGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant 18 82 0 0.08163257 0.04081629 247 25 0 0 0 0.9991508 1 0.9912846 0.9893721 -0.9991508 -0.9183674 -0.9912846 -0.9893721 0.9995754 0.9903284 -0.9587591 -0.9903284 0.03156924 TRUE TRUE 1 4.197 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA CTG T,G 8.236e-06 10:73243844 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 4.703538 0.97513 0.97743 0.608746 0.9929054 0 0.5470065 FALSE 4.09407e-06 ENSE00001102151_007 ENSE00001102151 007 10 75003565 75003734 - 36 87 47 C T 75003627 1718 108 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCATGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243868 73243869 73243869 exon -27 0.7011494 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCATGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 315 280 0.9982891 1 0.9991446 0.9991508 1 0.9912846 0.9893721 NA NA 0.007004508 0.01062786 0.9995754 0.9903284 NA 0.008816183 NA FALSE NA 0 0.202 rs146921292 downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 rs146921292 1 NA T:0.0002 T:0.0005 ACG C,T 8.236e-05 10:73243869 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 2.901784 0.23912 0.10623 0.67177 0.9873727 0 0.5470065 FALSE 7.31327e-05 ENSE00001102151_008 ENSE00001102151 008 10 75003565 75003734 - 36 87 47 C T 75003629 1719 106 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGTCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243870 73243871 73243871 exon -29 0.6781609 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGACGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 32 731 0.9751487 0.9965225 0.9858356 0.9991508 1 0.9912846 0.9893721 NA NA -0.01613587 0.007150338 0.9995754 0.9903284 NA -0.004492764 NA FALSE NA 0.019 0.15 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA GCC C,T 4.118e-05 10:73243871 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 2.373787 0.75779 0.12056 0.67177 0.9284868 0 0.5470065 FALSE 8.12552e-05 ENSE00001102151_009 ENSE00001102151 009 10 75003565 75003734 - 36 87 47 C A 75003640 1720 95 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGACCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243881 73243882 73243882 exon -40 0.5517241 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGTCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 208 236 1 1 1 0.9991508 1 0.9912846 0.9893721 NA NA 0.008715389 0.01062786 0.9995754 0.9903284 NA 0.009671624 NA FALSE NA 0.002 -1.985 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA GCC C,A 8.236e-06 10:73243882 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 synonymous_variant 2.762331 0.62607 0.07848 0.67177 0.7529867 0 0.5470065 FALSE 4.06223e-06 ENSE00001102151_010 ENSE00001102151 010 10 75003565 75003734 - 36 87 47 T G 75003647 1721 88 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACGCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243888 73243889 73243889 exon 41 0.4712644 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGCGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 687 2577 0.9903085 0.9993603 0.9948344 0.9991508 1 0.9912846 0.9893721 NA NA -0.0009760798 0.009988179 0.9995754 0.9903284 NA 0.00450605 NA FALSE NA 1 5.79 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA CTC T,G 6.589e-05 10:73243889 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 6.159428 0.98508 0.98393 0.67177 0.9964913 0 0.5470065 FALSE 5.68685e-05 ENSE00001102151_011 ENSE00001102151 011 10 75003565 75003734 - 36 87 47 C T 75003648 1722 87 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTTCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243889 73243890 73243890 exon 40 0.4597701 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGAAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 416 1502 0.9652291 0.9980737 0.9816514 0.9991508 1 0.9912846 0.9893721 NA NA -0.02605555 0.008701597 0.9995754 0.9903284 NA -0.008676977 NA FALSE NA 1 5.633 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA TCC C,T 3.295e-05 10:73243890 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 4.624307 0.98796 0.98228 0.67177 0.9989374 0 0.5470065 FALSE 2.43718e-05 ENSE00001102151_012 ENSE00001102151 012 10 75003565 75003734 - 36 87 47 C G 75003656 1723 79 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGGTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243897 73243898 73243898 exon 32 0.3678161 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGACCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 1812 652 0.9957286 0.8174787 0.9066037 0.9991508 1 0.9912846 0.9893721 NA NA 0.004444007 -0.1718934 0.9995754 0.9903284 NA -0.08372471 NA FALSE NA 0.013 -0.08 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA GCT C,G 8.236e-06 10:73243898 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 0.634894 0.22718 0.04551 0.67177 0.8037857 0 0.5470065 FALSE 8.12387e-06 ENSE00001102151_013 ENSE00001102151 013 10 75003565 75003734 - 36 87 47 C T 75003666 1724 69 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGTTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243907 73243908 73243908 exon 22 0.2528736 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAACAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 1420 2806 0.954187 0.958807 0.956497 0.9991508 1 0.9912846 0.9893721 NA NA -0.0370976 -0.03056515 0.9995754 0.9903284 NA -0.03383138 NA FALSE NA 1 5.633 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA GCT C,T 8.236e-06 10:73243908 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 6.854938 0.98793 0.98225 0.608746 0.999191 0 0.5470065 FALSE 4.06243e-06 ENSE00001102151_014 ENSE00001102151 014 10 75003565 75003734 - 36 87 47 T G 75003668 1725 67 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTGCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243909 73243910 73243910 exon 20 0.2298851 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGCAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 68 640 0.8 0.9943845 0.8971923 0.9991508 1 0.9912846 0.9893721 NA NA -0.1912846 0.005012405 0.9995754 0.9903284 NA -0.0931361 NA FALSE NA 1 5.79 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA TTC T,G 4.942e-05 10:73243910 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 6.184728 0.98504 0.98391 0.608746 0.996765 0 0.5470065 FALSE 3.25002e-05 ENSE00001102151_015 ENSE00001102151 015 10 75003565 75003734 - 36 87 47 T C 75003672 1726 63 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTCGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243913 73243914 73243914 exon 16 0.183908 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCGAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 3182 909 0.9993385 0.9722217 0.9857801 0.9991508 1 0.9912846 0.9893721 NA NA 0.008053923 -0.01715041 0.9995754 0.9903284 NA -0.004548246 NA FALSE NA 1 2.258 rs138208732 downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 rs138208732 1 NA TTG T,C 8.236e-06 10:73243914 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 missense_variant 1.716262 0.96584 0.90773 0.608746 0.990797 0 0.5470065 FALSE 4.06243e-06 ENSE00001102151_016 ENSE00001102151 016 10 75003565 75003734 - 36 87 47 G T 75003690 1727 45 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTTAAACAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243931 73243932 73243932 upstr_intron -3 -0.04255319 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTAAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 150 10 0 0.03401185 0.01700593 0.9991508 1 0.9912846 0.9893721 NA NA -0.9912846 -0.9553603 0.9995754 0.9903284 NA -0.9733224 NA TRUE NA 1 1.175 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA TGA G,T 8.236e-06 10:73243932 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 splice_region_variant 0.959004 0.95439 0.93442 0.079558 0.6957524 0.357474 0.5470065 FALSE 4.0708e-06 ENSE00001102151_017 ENSE00001102151 017 10 75003565 75003734 - 36 87 47 A G 75003693 1728 42 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAGCAGGAACTCACATGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243934 73243935 73243935 upstr_intron -6 -0.106383 TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGCTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant 20 22 0 0 0 609 833 0.03572213 0.00121481 0.01846847 0.9991508 1 0.9912846 0.9893721 -0.9991508 -1 -0.9555625 -0.9881573 0.9995754 0.9903284 -0.9995754 -0.9718599 0.02771551 TRUE TRUE 0.986 2.011 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA AAC A,G 8.236e-06 10:73243935 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 splice_region_variant 1.130423 0.94776 0.91763 0.079558 0.7380635 0.349924 0.5470065 FALSE NA ENSE00001102151_018 ENSE00001102151 018 10 75003565 75003734 - 36 87 47 T G 75003706 1729 29 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACAGGAGACTCAGGGCCACCAGGAAATGCTTA 73243806 73243976 73243947 73243948 73243948 upstr_intron -19 -0.3829787 TAAGCATTTCCTGGTGGCCCTGAGTCTCCTGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 1110 55 0.823407 0.852171 0.837789 0.9991508 1 0.9912846 0.9893721 NA NA -0.1678776 -0.1372012 0.9995754 0.9903284 NA -0.1525394 NA FALSE NA 0.004 1.055 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 rs200313574 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0001 ATG T,G 7.413e-05 10:73243948 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 3_prime_UTR_variant 1.715554 0.67039 0.23863 0.093295 0.8631114 0.13133 0.5470065 FALSE 4.51679e-05 ENSE00001102151_020 ENSE00001102151 020 10 75003565 75003734 - 36 87 47 A G 75003714 1731 21 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCGGGGCCACCAGGAAATGCTTA 73243806 73243976 73243955 73243956 73243956 upstr_intron -27 -0.5531915 TAAGCATTTCCTGGTGGCCCCGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 1478 1258 0.9269816 0.9932459 0.9601138 0.9991508 1 0.9912846 0.9893721 NA NA -0.06430298 0.003873801 0.9995754 0.9903284 NA -0.03021459 NA FALSE NA 0.002 1.397 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 rs553467405 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CAG A,G 1.647e-05 10:73243956 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 3_prime_UTR_variant 0.787332 0.22504 0.18735 0.093295 0.8295366 0.0788502 0.5470065 FALSE 2.16976e-05 ENSE00001102151_021 ENSE00001102151 021 10 75003565 75003734 - 36 87 47 G A 75003717 1732 18 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGACCACCAGGAAATGCTTA 73243806 73243976 73243958 73243959 73243959 upstr_intron -30 -0.6170213 TAAGCATTTCCTGGTGGTCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant NA NA NA NA NA 115 36 0.9974677 1 0.9987339 0.9991508 1 0.9912846 0.9893721 NA NA 0.006183137 0.01062786 0.9995754 0.9903284 NA 0.008405498 NA FALSE NA 0.001 0.253 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 rs560067839 1 A:0.0024 A:0 A:0 NA A:0 A:0 A:0.0123 GGC G,A 0.001425 10:73243959 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 3_prime_UTR_variant 0.709132 0.14953 0.07145 0.093295 0.6205528 0.0908762 0.5470065 FALSE 0.00117985 ENSE00001102151_022 ENSE00001102151 022 10 75003565 75003734 - 36 87 47 C A 75003718 1733 17 ATCATTAAAGATGTGGCAACAAACTGCCAAGTTTACCTGAATGGCTGCCTTCAGGCTATCCACGCCTTCATCAAGCCCCAACTCCTTTCTGCTCATTTCTGCTTCTTTGGCCTCTTCCTGAGCCTGAAACAGGAACTCACATGAGACTCAGGGACACCAGGAAATGCTTA 73243806 73243976 73243959 73243960 73243960 upstr_intron -31 -0.6382979 TAAGCATTTCCTGGTGTCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT TAAGCATTTCCTGGTGGCCCTGAGTCTCATGTGAGTTCCTGTTTCAGGCTCAGGAAGAGGCCAAAGAAGCAGAAATGAGCAGAAAGGAGTTGGGGCTTGATGAAGGCGTGGATAGCCTGAAGGCAGCCATTCAGGTAAACTTGGCAGTTTGTTGCCACATCTTTAATGAT mutant 14 22 1 0.9898964 0.9949482 1824 600 0.9971336 1 0.9985668 0.9991508 1 0.9912846 0.9893721 0.0008491644 -0.01010358 0.005848995 0.01062786 0.9995754 0.9903284 -0.00462721 0.008238427 0.01286564 FALSE FALSE 0.002 0.509 . downstream_gene_variant MODIFIER DNAJC9 HGNC 19123 ENST00000512551 1 NA GCC C,A 8.236e-06 10:73243960 DNAJC9 HGNC Symbol protein_coding 65500 ENSG00000213551 ENSE00003665350 3_prime_UTR_variant 0.775901 0.16122 0.09729 0.093295 0.686899 0.0908762 0.5470065 FALSE NA ENSE00001104098_006 ENSE00001104098 006 16 66547595 66547764 - 39 81 50 A G 66547650 2111 115 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCACGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513746 66513747 66513747 exon -17 0.8024691 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCACGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant 12 70 0.9440795 0.9199001 0.9319898 NA NA NA NA NA NA NA 0.9975726 0.9870661 NA NA NA NA NA 0.9923193 NA NA NA NA NA 0.001 1.282 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 10/11 1 NA CAT A,G 8.236e-06 16:66513747 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 missense_variant 1.143157 0.23238 0.07307 0.75658 0.8010787 0 0.003269753 FALSE 4.06286e-06 ENSE00001104098_007 ENSE00001104098 007 16 66547595 66547764 - 39 81 50 T C 66547651 2112 114 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCGTGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513747 66513748 66513748 exon -18 0.7901235 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCGTGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant NA NA NA NA NA 25 30 1 1 1 NA NA 0.9975726 0.9870661 NA NA 0.002427419 0.01293389 NA 0.9923193 NA 0.007680655 NA FALSE NA 0 0.168 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 10/11 1 NA ATG C,C 8.236e-06 16:66513748 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 missense_variant -1.298974 0.16524 0.0022 0.75658 0.7756497 0 0.003269753 FALSE NA ENSE00001104098_013 ENSE00001104098 013 16 66547595 66547764 - 39 81 50 A G 66547689 2118 76 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCCCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513785 66513786 66513786 exon 26 0.3209877 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCCCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant NA NA NA NA NA 135 814 0.9934172 0.9986375 0.9960274 NA NA 0.9975726 0.9870661 NA NA -0.004155377 0.01157141 NA 0.9923193 NA 0.003708018 NA FALSE NA 1 4.972 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 10/11 rs281865497&CM065487 1 NA GAG A,G 1.647e-05 16:66513786 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 missense_variant 6.127991 0.94649 0.8535 0.75658 0.9986864 0 0.003269753 FALSE 4.06418e-06 ENSE00001104098_015 ENSE00001104098 015 16 66547595 66547764 - 39 81 50 T A 66547713 2120 52 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGTATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513809 66513810 66513810 exon 2 0.02469136 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGTATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant NA NA NA NA NA 1132 22 0.9120257 1 0.9560128 NA NA 0.9975726 0.9870661 NA NA -0.08554689 0.01293389 NA 0.9923193 NA -0.0363065 NA FALSE NA 1 5.785 rs141225776 splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW TK2 HGNC 11831 ENST00000567357 10/11 rs141225776 1 NA A:0 A:0.0003 TTC T,A 4.942e-05 16:66513810 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 missense_variant 6.868475 0.94464 0.86735 0.75658 0.9926295 0 0.003269753 FALSE 5.29019e-05 ENSE00001104098_016 ENSE00001104098 016 16 66547595 66547764 - 39 81 50 G A 66547717 2121 48 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGTAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513813 66513814 66513814 upstr_intron -3 -0.04 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGTAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant NA NA NA NA NA 126 344 0.8 0.9782431 0.8891215 NA NA 0.9975726 0.9870661 NA NA -0.1975726 -0.008823046 NA 0.9923193 NA -0.1031978 NA FALSE NA 0.773 1.54 . splice_region_variant&intron_variant&NMD_transcript_variant LOW TK2 HGNC 11831 ENST00000567357 9/10 1 NA TGC G,A 1.647e-05 16:66513814 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 stop_gained 1.858125 0.89299 0.26209 0.51972 0.9863636 0 0.003269753 FALSE 8.14326e-06 ENSE00001104098_018 ENSE00001104098 018 16 66547595 66547764 - 39 81 50 C T 66547741 2123 24 TGGGGTCTGCTCTGTCCACTCCCAACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513837 66513838 66513838 upstr_intron -27 -0.52 TGGGGTCTGCTCTGTCCACTCCCAACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant NA NA NA NA NA 165 215 0.9867349 1 0.9933674 NA NA 0.9975726 0.9870661 NA NA -0.01083771 0.01293389 NA 0.9923193 NA 0.001048089 NA FALSE NA 0 -2.15 rs147168975 intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 9/10 rs147168975 1 T:0.0038 T:0.0144 T:0 NA T:0 T:0 T:0 T:0.0118 T:0.0001 TCG C,T 0.001334 16:66513838 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 missense_variant 0.239771 0.18256 0.03281 0.57788 0.4022724 0 0.003269753 FALSE 0.00117897 ENSE00001104098_022 ENSE00001104098 022 16 66547595 66547764 - 39 81 50 C T 66547751 2127 14 TGGGGTCTGCTCTATCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513847 66513848 66513848 upstr_intron -37 -0.72 TGGGGTCTGCTCTATCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant NA NA NA NA NA 48 115 1 1 1 NA NA 0.9975726 0.9870661 NA NA 0.002427419 0.01293389 NA 0.9923193 NA 0.007680655 NA FALSE NA 0 -3.511 . intron_variant&NMD_transcript_variant MODIFIER TK2 HGNC 11831 ENST00000567357 9/10 1 NA ACA C,T 8.237e-06 16:66513848 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 synonymous_variant 0.208782 0.12501 0.00902 0.57788 0.3811491 0 0.003269753 FALSE NA ENSE00001106076_001 ENSE00001106076 001 17 33344504 33344673 - 38 84 48 G T 33344546 1435 128 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGAACCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017526 35017527 35017527 exon -5 0.952381 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGAACCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 120 426 1 0.9825278 0.9912639 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 -0.01688813 0.9969673 0.9939074 NA -0.002643512 NA FALSE NA 1 3.067 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 1 NA GGT G,T 0.00014 17:35017527 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 missense_variant 3.948034 0.97936 0.91059 0.6512 0.9705089 0 0.3792222 FALSE 0.00017278 ENSE00001106076_002 ENSE00001106076 002 17 33344504 33344673 - 38 84 48 T C 33344547 1436 127 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGGCCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017527 35017528 35017528 exon -6 0.9404762 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGGCCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 108 361 1 0.8246953 0.9123477 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 -0.1747207 0.9969673 0.9939074 NA -0.08155977 NA FALSE NA 1 3.918 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 1 NA GTC T,C 8.238e-06 17:35017528 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 missense_variant 2.981569 0.98599 0.93914 0.6512 0.9793471 0 0.3792222 FALSE NA ENSE00001106076_004 ENSE00001106076 004 17 33344504 33344673 - 38 84 48 G A 33344562 1438 112 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTATCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017542 35017543 35017543 exon -21 0.7619048 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTATCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 234 443 0.9996477 0.9908237 0.9952357 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01124884 -0.008592274 0.9969673 0.9939074 NA 0.001328283 NA FALSE NA 0.997 1.623 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 1 NA GGT G,A 8.237e-06 17:35017543 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 missense_variant 1.492213 0.91502 0.72853 0.6512 0.9696982 0 0.3792222 FALSE NA ENSE00001106076_006 ENSE00001106076 006 17 33344504 33344673 - 38 84 48 C T 33344574 1440 100 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCATGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017554 35017555 35017555 exon -33 0.6190476 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCATGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 98 108 1 1 1 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 0.0005840361 0.9969673 0.9939074 NA 0.006092573 NA FALSE NA 1 1.04 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 1 NA ACG C,T 8.238e-06 17:35017555 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 missense_variant 2.90286 0.94748 0.18745 0.706548 0.9820048 0 0.3792222 FALSE 2.48311e-05 ENSE00001106076_008 ENSE00001106076 008 17 33344504 33344673 - 38 84 48 A G 33344610 1442 64 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGCCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017590 35017591 35017591 exon 16 0.1904762 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGCCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 179 1726 1 0.9977792 0.9988896 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 -0.001636725 0.9969673 0.9939074 NA 0.004982192 NA FALSE NA 1 1.505 rs141166989 intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 1 NA GAC A,G 8.238e-06 17:35017591 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 missense_variant 2.453916 0.96076 0.50662 0.706548 0.9698906 0 0.3792222 FALSE 2.08417e-05 ENSE00001106076_009 ENSE00001106076 009 17 33344504 33344673 - 38 84 48 T C 33344615 1443 59 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCGTGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017595 35017596 35017596 exon 11 0.1309524 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCGTGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 74 135 0.985213 1 0.9926065 0.9984718 0.9954627 0.9883989 0.999416 NA NA -0.003185915 0.0005840361 0.9969673 0.9939074 NA -0.001300939 NA FALSE NA 0.996 0.159 rs146182533 intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 rs146182533 1 NA C:0.0002 C:0 ATG T,C 8.238e-06 17:35017596 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 missense_variant 0.902708 0.96568 0.74144 0.732398 0.7562933 0 0.3792222 FALSE 4.19326e-06 ENSE00001106076_010 ENSE00001106076 010 17 33344504 33344673 - 38 84 48 T C 33344621 1444 53 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAGTGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017601 35017602 35017602 exon 5 0.05952381 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAGTGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 69 678 1 1 1 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 0.0005840361 0.9969673 0.9939074 NA 0.006092573 NA FALSE NA 0.998 0.102 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 rs201522952 1 NA C:0 C:0.0002 ATT T,C 5.767e-05 17:35017602 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 missense_variant 0.134553 0.96669 0.73559 0.719381 0.3814129 0 0.3792222 FALSE 4.21003e-05 ENSE00001106076_011 ENSE00001106076 011 17 33344504 33344673 - 38 84 48 G A 33344628 1445 46 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCATAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017608 35017609 35017609 upstr_intron -3 -0.04166667 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCATAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 410 1086 1 0.9995784 0.9997892 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 0.0001624078 0.9969673 0.9939074 NA 0.005881759 NA FALSE NA 1 3.111 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 1 NA TGT G,A 8.239e-06 17:35017609 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 splice_region_variant 2.116887 0.98591 0.91563 0.106106 0.9505791 0.985628 0.3792222 FALSE NA ENSE00001106076_012 ENSE00001106076 012 17 33344504 33344673 - 38 84 48 A G 33344634 1446 40 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCCTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017614 35017615 35017615 upstr_intron -9 -0.1666667 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCCTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 172 50 1 1 1 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 0.0005840361 0.9969673 0.9939074 NA 0.006092573 NA FALSE NA 1 3.095 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 1 NA AAG A,G 2.472e-05 17:35017615 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 intron_variant 2.384386 0.96449 0.70682 0.106106 0.8062183 0.889365 0.3792222 FALSE 2.17918e-05 ENSE00001106076_013 ENSE00001106076 013 17 33344504 33344673 - 38 84 48 G C 33344637 1447 37 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTGTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017617 35017618 35017618 upstr_intron -12 -0.2291667 GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTGTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 392 966 1 0.9982475 0.9991238 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 -0.00116846 0.9969673 0.9939074 NA 0.005216325 NA FALSE NA 1 1.194 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 rs552056425 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 AGA G,C 8.242e-06 17:35017618 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 intron_variant 1.664437 0.96315 0.81361 0.106106 0.6658113 0.596694 0.3792222 FALSE NA ENSE00001106076_014 ENSE00001106076 014 17 33344504 33344673 - 38 84 48 A T 33344647 1448 27 GATCTCTGGGACATCTCTAGATGTGAAGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT 35017484 35017654 35017627 35017628 35017628 upstr_intron -22 -0.4375 GATCTCTGGGACATCTCTAGATGTGAAGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT GATCTCTGGGACATCTCTAGATGTGATGTTACTTTTCTCTTCCCACAGGCCAATGGCCATGTGTCTCAGGATCAAGAGGAACCCGTCTACCTGGAGAGCGTGGCCAGAGTACCTGCTGAGGATGAGACCCAGGTGGGGCCTCTGCTTGGGTCTGTGTCTTCACCTTTCCT mutant NA NA NA NA NA 104 11 1 1 1 0.9984718 0.9954627 0.9883989 0.999416 NA NA 0.01160111 0.0005840361 0.9969673 0.9939074 NA 0.006092573 NA FALSE NA 0.988 0.323 . intron_variant MODIFIER RFFL HGNC 24821 ENST00000268850 3/4 1 NA CAT A,T 1.65e-05 17:35017628 RFFL HGNC Symbol protein_coding 83329 ENSG00000092871 ENSE00003583940 intron_variant 2.404111 0.96375 0.6975 0.106106 0.85874 0.491327 0.3792222 FALSE 4.62479e-06 ENSE00001113279_001 ENSE00001113279 001 19 16240299 16240468 + 65 51 54 C G 16240319 1327 21 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTCAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129508 16129509 16129509 upstr_intron -45 -0.6769231 TACACGGGCGGCTGAGGACTGAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 790 1255 0.7946182 0.8258268 0.8102225 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.04436101 0.1553511 0.8470902 0.7547274 NA 0.05549506 NA FALSE NA 0 -0.196 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA TCA C,G 8.236e-06 19:16129509 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant 0.075266 0.17651 0.031 0.256867 0.6445153 0.0533055 NA NA 4.06507e-06 ENSE00001113279_002 ENSE00001113279 002 19 16240299 16240468 + 65 51 54 C T 16240325 1328 27 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGAACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129514 16129515 16129515 upstr_intron -39 -0.5846154 TACACGGGCGGCTGAGGACTCAGGGTTCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 725 460 0.9670257 0.8451112 0.9060685 0.8492822 0.8448982 0.8389792 0.6704756 NA NA 0.1280466 0.1746355 0.8470902 0.7547274 NA 0.1513411 NA FALSE NA 0 -0.214 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA TCC C,T 1.647e-05 19:16129515 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant 0.173006 0.17238 0.09425 0.256867 0.6948718 0.0533055 NA NA 8.12916e-06 ENSE00001113279_003 ENSE00001113279 003 19 16240299 16240468 + 65 51 54 C A 16240335 1329 37 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTTGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129524 16129525 16129525 upstr_intron -29 -0.4307692 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCAAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 1569 1867 0.820253 0.8752154 0.8477342 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.01872613 0.2047398 0.8470902 0.7547274 NA 0.09300682 NA FALSE NA 0.004 1.23 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA CCA C,A 8.236e-06 19:16129525 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant 0.30172 0.17882 0.13472 0.256867 0.4946272 0.0533055 NA NA 4.06306e-06 ENSE00001113279_005 ENSE00001113279 005 19 16240299 16240468 + 65 51 54 A G 16240347 1331 49 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACACTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129536 16129537 16129537 upstr_intron -17 -0.2461538 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAGTGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 954 831 0.7485641 0.6082089 0.6783865 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.09041502 -0.06226678 0.8470902 0.7547274 NA -0.0763409 NA FALSE NA 0 -2.532 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA AAT A,G 1.647e-05 19:16129537 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant -0.168473 0.13809 0.04239 0.256867 0.4872579 0.0533055 NA NA 1.62509e-05 ENSE00001113279_006 ENSE00001113279 006 19 16240299 16240468 + 65 51 54 T C 16240348 1332 50 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACGTTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129537 16129538 16129538 upstr_intron -16 -0.2307692 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAACGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 1724 1316 0.0006965848 0.01243014 0.006563364 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.8382826 -0.6580455 0.8470902 0.7547274 NA -0.748164 NA TRUE NA 0 0.003 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA ATG T,C 8.236e-06 19:16129538 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant 0.359634 0.18636 0.04267 0.256867 0.7247234 0.143798 NA NA 4.06289e-06 ENSE00001113279_010 ENSE00001113279 010 19 16240299 16240468 + 65 51 54 C G 16240372 1336 74 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTCAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129561 16129562 16129562 exon 9 0.1764706 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTGACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 620 2629 0.9693593 0.9797973 0.9745783 0.8492822 0.8448982 0.8389792 0.6704756 NA NA 0.1303801 0.3093216 0.8470902 0.7547274 NA 0.2198509 NA FALSE NA 0.997 0.708 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA TCA C,G 8.236e-06 19:16129562 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 missense_variant 2.016657 0.91394 0.78358 0.706548 0.9853062 0 NA NA 4.06524e-06 ENSE00001113279_016 ENSE00001113279 016 19 16240299 16240468 + 65 51 54 A G 16240393 1342 95 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCCTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129582 16129583 16129583 exon -22 0.5882353 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAGGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 949 95 0.9677543 0.9449335 0.9563439 0.8492822 0.8448982 0.8389792 0.6704756 NA NA 0.1287751 0.2744578 0.8470902 0.7547274 NA 0.2016165 NA FALSE NA 1 3.035 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA AAG A,G 8.236e-06 19:16129583 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 missense_variant 0.460554 0.95923 0.92588 0.706548 0.8878045 0 NA NA 8.13862e-06 ENSE00001113279_020 ENSE00001113279 020 19 16240299 16240468 + 65 51 54 C T 16240432 1346 134 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCAGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129621 16129622 16129622 downstr_intron 18 1.339623 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCTGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 1442 946 0.8 0.7978872 0.7989436 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.03897917 0.1274116 0.8470902 0.7547274 NA 0.0442162 NA FALSE NA 0 0.217 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA CCG C,T 9.061e-05 19:16129622 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant 0.715709 0.18737 0.04478 0.099367 0.8781196 0.0980298 NA NA 7.79692e-05 ENSE00001113279_023 ENSE00001113279 023 19 16240299 16240468 + 65 51 54 C T 16240439 1349 141 CGATGGCTGGATCCCAGAGATCCACCCGGAGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129628 16129629 16129629 downstr_intron 25 1.471698 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCTCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 521 499 0.9419336 0.9174748 0.9297042 0.8492822 0.8448982 0.8389792 0.6704756 NA NA 0.1029544 0.2469991 0.8470902 0.7547274 NA 0.1749768 NA FALSE NA 0 0.493 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA CCC C,T 8.237e-06 19:16129629 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant 0.52951 0.16238 0.07554 0.099367 0.8741531 0.0693438 NA NA NA ENSE00001113279_025 ENSE00001113279 025 19 16240299 16240468 + 65 51 54 C T 16240441 1351 143 CGATGGCTGGATCCCAGAGATCCACCCAGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129630 16129631 16129631 downstr_intron 27 1.509434 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCTGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 157 405 0.8 0.8886051 0.8443026 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.03897917 0.2181295 0.8470902 0.7547274 NA 0.08957517 NA FALSE NA 0 -3.047 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA CCG C,T 1.647e-05 19:16129631 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant -0.139664 0.11181 0.01852 0.099367 0.8509806 0.0693438 NA NA 1.6442e-05 ENSE00001113279_028 ENSE00001113279 028 19 16240299 16240468 + 65 51 54 A T 16240457 1354 159 CGATGGCTGGAACCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129646 16129647 16129647 downstr_intron 43 1.811321 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGTTCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 430 189 0.9203453 0.8971128 0.908729 0.8492822 0.8448982 0.8389792 0.6704756 NA NA 0.08136613 0.2266371 0.8470902 0.7547274 NA 0.1540016 NA FALSE NA 0.004 -0.025 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs201620304 1 T:0.0004 T:0 T:0 NA T:0.002 T:0 T:0 GAT A,T 0.00014 19:16129647 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00003672157 intron_variant 0.105585 0.14924 0.08746 0.099367 0.7919967 0.0533846 NA NA 9.89593e-05 ENSE00001113280_001 ENSE00001113280 001 19 16238779 16238948 + 57 66 47 C T 16238790 1293 12 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCACATCTGAGCTT 16127968 16128138 16127979 16127980 16127980 upstr_intron -46 -0.7894737 AAGCTCAGATGTGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 1262 141 0.9993923 0.9923632 0.9958778 0.9797483 0.7945786 0.9990244 0.9889538 NA NA 0.0003679651 0.003409413 0.8871635 0.9939891 NA 0.001888689 NA FALSE NA 0 -3.204 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs374331124 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 GCG C,T 0.0001236 19:16127980 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 non_coding_transcript_exon_variant -0.069827 0.11874 0.02925 0.256867 0.815699 0.0824744 NA NA 0.000130517 ENSE00001113280_005 ENSE00001113280 005 19 16238779 16238948 + 57 66 47 C T 16238794 1297 16 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCAGGCGCATCTGAGCTT 16127968 16128138 16127983 16127984 16127984 upstr_intron -42 -0.7192982 AAGCTCAGATGCGCCTGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 103 118 1 0.9929265 0.9964633 0.9797483 0.7945786 0.9990244 0.9889538 NA NA 0.0009756496 0.003972676 0.8871635 0.9939891 NA 0.002474163 NA FALSE NA 0 -0.641 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs372120517 1 T:0.0008 T:0 T:0 NA T:0.004 T:0 T:0 T:0.0002 T:0 CCG C,T 7.413e-05 19:16127984 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 non_coding_transcript_exon_variant 0.05494 0.12203 0.01164 0.256867 0.7621543 0.0824744 NA NA 6.92735e-05 ENSE00001113280_006 ENSE00001113280 006 19 16238779 16238948 + 57 66 47 G A 16238795 1298 17 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCTGGGCGCATCTGAGCTT 16127968 16128138 16127984 16127985 16127985 upstr_intron -41 -0.7017544 AAGCTCAGATGCGCCCAGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 757 318 0.9540789 0.9010053 0.9275421 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.04494547 -0.08794854 0.8871635 0.9939891 NA -0.06644701 NA FALSE NA 0 -1.044 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA CGG G,A 6.589e-05 19:16127985 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 non_coding_transcript_exon_variant -0.269011 0.15462 0.05661 0.256867 0.702061 0.0824744 NA NA 4.07408e-05 ENSE00001113280_008 ENSE00001113280 008 19 16238779 16238948 + 57 66 47 G A 16238798 1300 20 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCTGCCGGGCGCATCTGAGCTT 16127968 16128138 16127987 16127988 16127988 upstr_intron -38 -0.6491228 AAGCTCAGATGCGCCCGGCAGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 164 130 0.9997488 0.9951023 0.9974255 0.9797483 0.7945786 0.9990244 0.9889538 NA NA 0.0007244441 0.006148431 0.8871635 0.9939891 NA 0.003436437 NA FALSE NA 0 -2.184 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs369288283 1 NA A:0.0002 A:0 CGG G,A 3.295e-05 19:16127988 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 non_coding_transcript_exon_variant 0.040648 0.14658 0.02323 0.256867 0.6801908 0.0824744 NA NA 1.22122e-05 ENSE00001113280_009 ENSE00001113280 009 19 16238779 16238948 + 57 66 47 C T 16238814 1301 36 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACACATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128003 16128004 16128004 upstr_intron -22 -0.3684211 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGTGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 237 563 1 0.902654 0.951327 0.9797483 0.7945786 0.9990244 0.9889538 NA NA 0.0009756496 -0.0862998 0.8871635 0.9939891 NA -0.04266208 NA FALSE NA 0 -0.613 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA GCG C,T 2.471e-05 19:16128004 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 non_coding_transcript_exon_variant 0.1128 0.19288 0.03314 0.256867 0.5915146 0.0825786 NA NA 2.43946e-05 ENSE00001113280_012 ENSE00001113280 012 19 16238779 16238948 + 57 66 47 C T 16238823 1304 45 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGAAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128012 16128013 16128013 upstr_intron -13 -0.2105263 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTTCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 771 1039 0.9981709 0.9989948 0.9985829 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.0008534215 0.010041 0.8871635 0.9939891 NA 0.004593792 NA FALSE NA 0 -0.02 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA TCC C,T 8.237e-06 19:16128013 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 non_coding_transcript_exon_variant 1.134917 0.17889 0.12016 0.256867 0.7915174 0.0825786 NA NA NA ENSE00001113280_013 ENSE00001113280 013 19 16238779 16238948 + 57 66 47 C T 16238824 1305 46 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGAGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128013 16128014 16128014 upstr_intron -12 -0.1929825 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCTCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 296 1026 1 0.8939465 0.9469732 0.9797483 0.7945786 0.9990244 0.9889538 NA NA 0.0009756496 -0.09500737 0.8871635 0.9939891 NA -0.04701586 NA FALSE NA 0 -0.388 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA CCC C,T 1.647e-05 19:16128014 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 non_coding_transcript_exon_variant 1.315864 0.19793 0.02334 0.256867 0.796723 0.0825786 NA NA 1.21928e-05 ENSE00001113280_014 ENSE00001113280 014 19 16238779 16238948 + 57 66 47 A G 16238846 1306 68 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGCCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128035 16128036 16128036 exon 11 0.1666667 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGGCTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 720 1168 0.9972215 0.9962345 0.996728 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.001802868 0.007280651 0.8871635 0.9939891 NA 0.002738891 NA FALSE NA 1 6.042 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA GAC A,G 1.647e-05 19:16128036 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 missense_variant 4.718093 0.94679 0.89172 0.706548 0.9941858 0 NA NA 8.12519e-06 ENSE00001113280_015 ENSE00001113280 015 19 16238779 16238948 + 57 66 47 A G 16238849 1307 71 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCACAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128038 16128039 16128039 exon 14 0.2121212 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTGTGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 273 656 1 0.999942 0.999971 0.9797483 0.7945786 0.9990244 0.9889538 NA NA 0.0009756496 0.01098813 0.8871635 0.9939891 NA 0.00598189 NA FALSE NA 1 4.831 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 COSM564969 1 NA TAT A,G 8.236e-06 19:16128039 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 missense_variant 5.117315 0.93576 0.91223 0.706548 0.9977267 0 NA NA 4.06223e-06 ENSE00001113280_016 ENSE00001113280 016 19 16238779 16238948 + 57 66 47 C T 16238862 1308 84 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATAAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128051 16128052 16128052 exon 27 0.4090909 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTTATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 218 731 0.9603529 1 0.9801765 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.03867142 0.01104617 0.8871635 0.9939891 NA -0.01381263 NA FALSE NA 1 2.098 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 COSM3529982 1 NA TCA C,T 2.471e-05 19:16128052 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 synonymous_variant 1.968229 0.93402 0.85945 0.706548 0.7428971 0 NA NA 8.12506e-06 ENSE00001113280_017 ENSE00001113280 017 19 16238779 16238948 + 57 66 47 G A 16238865 1309 87 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCTATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128054 16128055 16128055 exon 30 0.4545455 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATAGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 1228 1184 0.8692998 0.9908942 0.930097 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.1297246 0.001940397 0.8871635 0.9939891 NA -0.0638921 NA FALSE NA 1 9.676 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA TGG G,A 1.647e-05 19:16128055 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 missense_variant 3.611036 0.97024 0.97835 0.706548 0.99208 0 NA NA 2.0312e-05 ENSE00001113280_018 ENSE00001113280 018 19 16238779 16238948 + 57 66 47 G A 16238877 1310 99 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTTGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128066 16128067 16128067 exon -25 0.6363636 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCAAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 259 351 0.9952324 0.8862036 0.940718 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.003791987 -0.1027503 0.8871635 0.9939891 NA -0.05327113 NA FALSE NA 0.017 -0.46 rs148398597 downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs148398597 1 NA A:0.0005 A:0 CGA G,A 4.942e-05 19:16128067 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 synonymous_variant 2.005657 0.79539 0.15169 0.706548 0.7939893 0 NA NA 3.25013e-05 ENSE00001113280_020 ENSE00001113280 020 19 16238779 16238948 + 57 66 47 A G 16238891 1312 113 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACACTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128080 16128081 16128081 exon -11 0.8484848 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAGTGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 410 48 0.8204425 0.95 0.8852212 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.1785819 -0.03895383 0.8871635 0.9939891 NA -0.1087679 NA FALSE NA 1 9.158 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA AAT A,G 8.236e-06 19:16128081 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 missense_variant 5.858604 0.9644 0.9778 0.706548 0.9987229 0 NA NA 4.06322e-06 ENSE00001113280_021 ENSE00001113280 021 19 16238779 16238948 + 57 66 47 T C 16238892 1313 114 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACGTTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128081 16128082 16128082 exon -10 0.8636364 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAACGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 149 1346 0.9906115 0.9952223 0.9929169 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.0084129 0.006268444 0.8871635 0.9939891 NA -0.001072228 NA FALSE NA 0.324 -0.546 rs147629164 downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs147629164 1 C:0.0034 C:0.0121 C:0.0014 NA C:0 C:0 C:0 C:0.0045 C:0 ATG C,C 0.0005354 19:16128082 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 synonymous_variant 0.553636 0.8814 0.20162 0.706548 0.5972296 0 NA NA 0.000459148 ENSE00001113280_022 ENSE00001113280 022 19 16238779 16238948 + 57 66 47 C T 16238908 1314 130 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGAACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128097 16128098 16128098 downstr_intron 7 1.152174 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTTCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 1063 41 0.9946939 1 0.997347 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.004330407 0.01104617 0.8871635 0.9939891 NA 0.003357879 NA FALSE NA 0.023 0.516 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA TCC C,T 3.295e-05 19:16128098 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 splice_region_variant 0.855495 0.2632 0.21596 0.069865 0.5340756 0.201752 NA NA 2.43948e-05 ENSE00001113280_024 ENSE00001113280 024 19 16238779 16238948 + 57 66 47 C T 16238910 1316 132 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCAGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128099 16128100 16128100 downstr_intron 9 1.195652 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCTGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 178 1182 0.9885806 0.9984722 0.9935264 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.01044375 0.009518404 0.8871635 0.9939891 NA -0.0004626709 NA FALSE NA 0 -2.06 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs370013796 1 NA T:0 T:0.0001 CCG C,T 0.00014 19:16128100 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 intron_variant 0.145413 0.13821 0.01551 0.069865 0.8149558 0.0653986 NA NA 7.72961e-05 ENSE00001113280_025 ENSE00001113280 025 19 16238779 16238948 + 57 66 47 G A 16238911 1317 133 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCTGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128100 16128101 16128101 downstr_intron 10 1.217391 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCAGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 803 2184 0.991862 0.9445869 0.9682245 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.007162334 -0.04436691 0.8871635 0.9939891 NA -0.02576462 NA FALSE NA 0 -1.106 rs2233147 downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs2233147 1 A:0.0080 A:0.0265 A:0.0072 NA A:0 A:0 A:0 A:0.0168 A:0 CGG G,A 0.001969 19:16128101 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 intron_variant 0.039637 0.1182 0.02654 0.069865 0.8297539 0.0653986 NA NA 0.00152182 ENSE00001113280_028 ENSE00001113280 028 19 16238779 16238948 + 57 66 47 T C 16238917 1320 139 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCGGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128106 16128107 16128107 downstr_intron 16 1.347826 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCCGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 84 423 1 0.9939702 0.9969851 0.9797483 0.7945786 0.9990244 0.9889538 NA NA 0.0009756496 0.005016349 0.8871635 0.9939891 NA 0.002995999 NA FALSE NA 0.006 1.292 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA CTG T,C 8.237e-06 19:16128107 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 intron_variant 1.24439 0.89626 0.05868 0.069865 0.6617364 0.0570006 NA NA 1.22081e-05 ENSE00001113280_032 ENSE00001113280 032 19 16238779 16238948 + 57 66 47 A C 16238926 1324 148 GGCCGATCCTGCAGGCCCCATGGCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128115 16128116 16128116 downstr_intron 25 1.543478 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGCCATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 482 228 0.9987258 0.9951851 0.9969555 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.0002985032 0.0062313 0.8871635 0.9939891 NA 0.002966398 NA FALSE NA 0 0.249 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA GAC A,C 8.237e-06 19:16128116 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 intron_variant 0.234224 0.38387 0.084 0.069865 0.7800227 0.0570006 NA NA 4.07485e-06 ENSE00001113280_033 ENSE00001113280 033 19 16238779 16238948 + 57 66 47 C T 16238927 1325 149 GGCCGATCCTGCAGGCCCCATATCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128116 16128117 16128117 downstr_intron 26 1.565217 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGATATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 540 923 0.999005 0.9998286 0.9994168 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -1.931487e-05 0.01087478 0.8871635 0.9939891 NA 0.005427733 NA FALSE NA 0.002 1.261 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 1 NA ACA C,T 8.237e-06 19:16128117 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 intron_variant 0.516356 0.39749 0.18364 0.069865 0.8012111 0.0570006 NA NA 8.15255e-06 ENSE00001113280_034 ENSE00001113280 034 19 16238779 16238948 + 57 66 47 G A 16238933 1326 155 GGCCGATCCTGCAGGTCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128122 16128123 16128123 downstr_intron 32 1.695652 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGACCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 144 784 0.9801421 0.9986785 0.9894103 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.01888229 0.00972467 0.8871635 0.9939891 NA -0.004578809 NA FALSE NA 0 -0.107 . downstream_gene_variant MODIFIER CTD-2231E14.8 Clone_based_vega_gene NA ENST00000599676 rs370517375 1 NA A:0 A:0.0001 GGC G,A 1.647e-05 19:16128123 AC008894.2 Clone-based (Ensembl) gene antisense 16231 ENSG00000269243 ENSE00001113280 intron_variant 0.341698 0.20638 0.0372 0.069865 0.8457096 0.0570006 NA NA 1.22578e-05 ENSE00001115463_014 ENSE00001115463 014 19 4429655 4429824 + 50 81 39 A G 4429749 323 95 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAGGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT 4429657 4429827 4429751 4429752 4429752 exon -37 0.5555556 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAGGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT mutant NA NA NA NA NA 122 125 0.04872679 0 0.0243634 0.8484457 0.847831 0.8058305 0.8 NA NA -0.7571037 -0.8 0.8481383 0.8029152 NA -0.7785518 NA TRUE NA 1 1.665 . synonymous_variant LOW CHAF1A HGNC 1910 ENST00000301280 10/15 1 NA AAG A,G 2.471e-05 19:4429752 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115463 synonymous_variant 1.518619 0.91402 0.62644 0.706548 0.5473498 0 0.9962262 TRUE 1.62594e-05 ENSE00001115463_015 ENSE00001115463 015 19 4429655 4429824 + 50 81 39 G A 4429752 324 98 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAAGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT 4429657 4429827 4429754 4429755 4429755 exon -34 0.5925926 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAAGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT mutant NA NA NA NA NA 33 214 0.8 0.8 0.8 0.8484457 0.847831 0.8058305 0.8 NA NA -0.005830471 0 0.8481383 0.8029152 NA -0.002915235 NA FALSE NA 1 0.517 . synonymous_variant LOW CHAF1A HGNC 1910 ENST00000301280 10/15 1 NA AGG G,A 3.295e-05 19:4429755 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115463 synonymous_variant 1.497603 0.91887 0.83954 0.706548 0.4044289 0 0.9962262 TRUE 3.25328e-05 ENSE00001115463_020 ENSE00001115463 020 19 4429655 4429824 + 50 81 39 G A 4429782 329 128 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAAGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT 4429657 4429827 4429784 4429785 4429785 exon -4 0.962963 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAAGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT mutant NA NA NA NA NA 69 159 1 1 1 0.8484457 0.847831 0.8058305 0.8 NA NA 0.1941695 0.2 0.8481383 0.8029152 NA 0.1970848 NA FALSE NA 1 1.571 . synonymous_variant LOW CHAF1A HGNC 1910 ENST00000301280 10/15 1 NA AGG G,A 8.236e-06 19:4429785 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115463 synonymous_variant 0.853722 0.89631 0.45263 0.706548 0.4026543 0 0.9962262 TRUE 4.0937e-06 ENSE00001115463_021 ENSE00001115463 021 19 4429655 4429824 + 50 81 39 G A 4429784 330 130 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGAGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT 4429657 4429827 4429786 4429787 4429787 exon -2 0.9876543 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGAGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT mutant NA NA NA NA NA 28 141 1 1 1 0.8484457 0.847831 0.8058305 0.8 NA NA 0.1941695 0.2 0.8481383 0.8029152 NA 0.1970848 NA FALSE NA 1 4.729 . missense_variant&splice_region_variant MODERATE CHAF1A HGNC 1910 ENST00000301280 10/15 1 probably_damaging(0.979) NA GGG G,A 8.236e-06 19:4429787 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115463 missense_variant 3.879901 0.94178 0.90794 0.706548 0.9942551 0 0.9962262 TRUE 4.10802e-06 ENSE00001115464_005 ENSE00001115464 005 19 4430502 4430671 + 44 93 33 C T 4430535 339 34 CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTTTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAGGGGGAGGTCACCGGCTCAG 4430504 4430674 4430537 4430538 4430538 upstr_intron -11 -0.2272727 CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTTTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAGGGGGAGGTCACCGGCTCAG CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTCTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAGGGGGAGGTCACCGGCTCAG mutant NA NA NA NA NA 52 55 1 0.9942652 0.9971326 NA NA 0.9999142 0.9879257 NA NA 8.576755e-05 0.006339564 NA 0.99392 NA 0.003212666 NA FALSE NA 0 -1.161 . intron_variant MODIFIER CHAF1A HGNC 1910 ENST00000301280 10/14 rs200257004 1 NA TCT C,T 5.766e-05 19:4430538 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115464 intron_variant 1.431973 0.13979 0.01459 0.256867 0.8131351 0.0574071 0.9962262 TRUE NA ENSE00001119248_002 ENSE00001119248 002 11 62543809 62543978 + 47 87 36 G C 62543833 1509 25 CCCTGCTTCACATCCTTTGACTCTCGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776360 62776361 62776361 upstr_intron -23 -0.4680851 CCCTGCTTCACATCCTTTGACTCTCGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 189 281 1 1 1 NA NA 0.9952394 0.9987298 NA NA 0.004760632 0.001270201 NA 0.9969846 NA 0.003015416 NA FALSE NA 0.003 0.693 . intron_variant MODIFIER TAF6L HGNC 17305 ENST00000529509 2/4 rs375069194 1 NA C:0.0002 C:0 TGG G,C 8.236e-06 11:62776361 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 intron_variant 0.41665 0.48055 0.08144 0.156188 0.7208678 0.106226 0.8198193 FALSE 4.06388e-06 ENSE00001119248_005 ENSE00001119248 005 11 62543809 62543978 + 47 87 36 C T 62543848 1512 40 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCTCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776375 62776376 62776376 upstr_intron -8 -0.1489362 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCTCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 110 476 0.996968 0.9969028 0.9969354 NA NA 0.9952394 0.9987298 NA NA 0.001728653 -0.001826996 NA 0.9969846 NA -4.917191e-05 NA FALSE NA 0 -0.322 . splice_region_variant&intron_variant LOW TAF6L HGNC 17305 ENST00000529509 2/4 1 NA CCC C,T 8.237e-06 11:62776376 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 splice_region_variant 0.592562 0.24376 0.07688 0.156188 0.6904479 0.23873 0.8198193 FALSE 4.06276e-06 ENSE00001119248_006 ENSE00001119248 006 11 62543809 62543978 + 47 87 36 C T 62543849 1513 41 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCTTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776376 62776377 62776377 upstr_intron -7 -0.1276596 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCTTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 250 51 0.9975043 1 0.9987522 NA NA 0.9952394 0.9987298 NA NA 0.002264942 0.001270201 NA 0.9969846 NA 0.001767571 NA FALSE NA 0 0.709 . splice_region_variant&intron_variant LOW TAF6L HGNC 17305 ENST00000529509 2/4 rs375032105 1 NA T:0 T:0.0001 CCT C,T 8.236e-06 11:62776377 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 splice_region_variant 0.495262 0.29782 0.10107 0.156188 0.6912076 0.23873 0.8198193 FALSE 4.0618e-06 ENSE00001119248_008 ENSE00001119248 008 11 62543809 62543978 + 47 87 36 C T 62543853 1515 45 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCTAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776380 62776381 62776381 upstr_intron -3 -0.04255319 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCTAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 72 1552 1 1 1 NA NA 0.9952394 0.9987298 NA NA 0.004760632 0.001270201 NA 0.9969846 NA 0.003015416 NA FALSE NA 1 3.233 . splice_region_variant&intron_variant LOW TAF6L HGNC 17305 ENST00000529509 2/4 1 NA CCA C,T 8.236e-06 11:62776381 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 splice_region_variant 1.676918 0.97613 0.8266 0.156188 0.7876619 0.557571 0.8198193 FALSE NA ENSE00001119248_009 ENSE00001119248 009 11 62543809 62543978 + 47 87 36 C T 62543861 1516 53 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGTTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776388 62776389 62776389 exon 6 0.06896552 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGTTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 70 294 1 0.9989577 0.9994788 NA NA 0.9952394 0.9987298 NA NA 0.004760632 0.0002278706 NA 0.9969846 NA 0.002494251 NA FALSE NA 1 0.95 . synonymous_variant LOW TAF6L HGNC 17305 ENST00000529509 3/5 rs372678134 1 NA T:0 T:0.0001 GCT C,T 1.647e-05 11:62776389 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 missense_variant 1.462292 0.98093 0.8226 0.706548 0.8340499 0 0.8198193 FALSE 8.12255e-06 ENSE00001119248_011 ENSE00001119248 011 11 62543809 62543978 + 47 87 36 C T 62543886 1518 78 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAATGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776413 62776414 62776414 exon 31 0.3563218 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAATGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant 13 26 1 0.9977863 0.9988931 68 55 1 0.9444363 0.9722182 NA NA 0.9952394 0.9987298 NA NA 0.004760632 -0.05429345 NA 0.9969846 NA -0.02476641 NA FALSE NA 0.999 1.957 . missense_variant MODERATE TAF6L HGNC 17305 ENST00000529509 3/5 1 deleterious(0) probably_damaging(0.999) NA ACG C,T 2.471e-05 11:62776414 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 missense_variant 7.665787 0.97751 0.83927 0.706548 0.9992749 0 0.8198193 FALSE 2.03047e-05 ENSE00001119248_012 ENSE00001119248 012 11 62543809 62543978 + 47 87 36 G A 62543887 1519 79 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACACCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776414 62776415 62776415 exon 32 0.3678161 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACACCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 325 96 1 1 1 NA NA 0.9952394 0.9987298 NA NA 0.004760632 0.001270201 NA 0.9969846 NA 0.003015416 NA FALSE NA 1 8.894 . missense_variant MODERATE TAF6L HGNC 17305 ENST00000529509 3/5 1 deleterious(0) probably_damaging(0.983) NA CGC G,A 8.236e-06 11:62776415 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 missense_variant 7.559629 0.99348 0.98635 0.706548 0.99949 0 0.8198193 FALSE 4.06105e-06 ENSE00001119248_015 ENSE00001119248 015 11 62543809 62543978 + 47 87 36 C T 62543899 1522 91 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGATGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776426 62776427 62776427 exon -44 0.5057471 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGATGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 137 404 1 0.9987659 0.999383 NA NA 0.9952394 0.9987298 NA NA 0.004760632 3.611992e-05 NA 0.9969846 NA 0.002398376 NA FALSE NA 1 4.229 rs139413937 missense_variant MODERATE TAF6L HGNC 17305 ENST00000529509 3/5 rs139413937 1 deleterious(0) possibly_damaging(0.57) NA T:0 T:0.0001 ACG C,T 0.0001071 11:62776427 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 missense_variant 6.457622 0.98342 0.92171 0.706548 0.9888272 0 0.8198193 FALSE 9.74683e-05 ENSE00001119248_016 ENSE00001119248 016 11 62543809 62543978 + 47 87 36 G C 62543901 1523 93 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGCTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776428 62776429 62776429 exon -42 0.5287356 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGCTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant 17 15 1 1 1 29 155 0.9799627 1 0.9899814 NA NA 0.9952394 0.9987298 NA NA -0.01527665 0.001270201 NA 0.9969846 NA -0.007003223 NA FALSE NA 1 8.894 . missense_variant MODERATE TAF6L HGNC 17305 ENST00000529509 3/5 1 tolerated(0.13) benign(0.043) NA GGT G,C 8.236e-06 11:62776429 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 missense_variant 4.057068 0.99357 0.98904 0.706548 0.992179 0 0.8198193 FALSE 1.21835e-05 ENSE00001119248_017 ENSE00001119248 017 11 62543809 62543978 + 47 87 36 G C 62543918 1524 110 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGCGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776445 62776446 62776446 exon -25 0.7241379 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGCGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 46 786 1 0.9989276 0.9994638 NA NA 0.9952394 0.9987298 NA NA 0.004760632 0.0001978321 NA 0.9969846 NA 0.002479232 NA FALSE NA 1 3.809 . missense_variant MODERATE TAF6L HGNC 17305 ENST00000529509 3/5 1 deleterious(0.05) possibly_damaging(0.799) NA GGG G,C 1.647e-05 11:62776446 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 missense_variant 4.563708 0.98368 0.92431 0.706548 0.9958279 0 0.8198193 FALSE 8.12242e-06 ENSE00001119248_018 ENSE00001119248 018 11 62543809 62543978 + 47 87 36 C T 62543921 1525 113 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCTCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776448 62776449 62776449 exon -22 0.7586207 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCTCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 19 148 1 0.9916088 0.9958044 NA NA 0.9952394 0.9987298 NA NA 0.004760632 -0.007120959 NA 0.9969846 NA -0.001180164 NA FALSE NA 0.088 -0.852 . synonymous_variant LOW TAF6L HGNC 17305 ENST00000529509 3/5 1 NA CCC C,T 1.647e-05 11:62776449 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 synonymous_variant 2.471095 0.96149 0.08482 0.706548 0.8640875 0 0.8198193 FALSE 1.21842e-05 ENSE00001119248_019 ENSE00001119248 019 11 62543809 62543978 + 47 87 36 T C 62543928 1526 120 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGACGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776455 62776456 62776456 exon -15 0.8390805 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGACGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 171 23 0.980625 1 0.9903125 NA NA 0.9952394 0.9987298 NA NA -0.01461434 0.001270201 NA 0.9969846 NA -0.006672069 NA FALSE NA 1 7.273 . missense_variant MODERATE TAF6L HGNC 17305 ENST00000529509 3/5 1 tolerated(0.1) benign(0.323) NA ATG T,C 8.236e-06 11:62776456 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 missense_variant 3.471058 0.99105 0.97465 0.706548 0.9759397 0 0.8198193 FALSE 4.06194e-06 ENSE00001119248_022 ENSE00001119248 022 11 62543809 62543978 + 47 87 36 G A 62543942 1529 134 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAAGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776469 62776470 62776470 exon -1 1 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAAGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 125 112 1 1 1 NA NA 0.9952394 0.9987298 NA NA 0.004760632 0.001270201 NA 0.9969846 NA 0.003015416 NA FALSE NA 1 4.953 . splice_region_variant&synonymous_variant LOW TAF6L HGNC 17305 ENST00000529509 3/5 1 NA AGG G,A 8.236e-06 11:62776470 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 splice_region_variant 1.789529 0.98141 0.94471 0.706548 0.8778885 0 0.8198193 FALSE 4.06326e-06 ENSE00001137121_002 ENSE00001137121 002 7 47853491 47853660 - 38 84 48 A T 47853509 1004 152 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTATTGCTTCCAAGAATAAAT 47813892 47814062 47813910 47813911 47813911 downstr_intron 20 1.540541 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTATTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 595 363 0.9746994 1 0.9873497 0.9964392 0.9866083 0.9941129 0.9902173 NA NA -0.0194135 0.009782707 0.9915237 0.9921651 NA -0.004815399 NA FALSE NA 0 0.095 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA AAA A,T 8.236e-06 7:47813911 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 intron_variant -0.17923 0.16126 0.02552 0.053691 0.7205209 0.0448725 0.0006095724 FALSE 8.13147e-06 ENSE00001137121_003 ENSE00001137121 003 7 47853491 47853660 - 38 84 48 T C 47853525 1005 136 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAGGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813926 47813927 47813927 downstr_intron 4 1.108108 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAGGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 50 333 0 0.09896177 0.04948088 0.9964392 0.9866083 0.9941129 0.9902173 NA NA -0.9941129 -0.8912555 0.9915237 0.9921651 NA -0.9426842 NA TRUE NA 0.039 0.078 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 rs377299082 1 NA C:0 C:0.0001 CTT T,C 8.236e-06 7:47813927 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 splice_region_variant 0.039776 0.87241 0.08845 0.053691 0.5745594 0.145988 0.0006095724 FALSE 8.12466e-06 ENSE00001137121_004 ENSE00001137121 004 7 47853491 47853660 - 38 84 48 C A 47853528 1006 133 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGTTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813929 47813930 47813930 downstr_intron 1 1.027027 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGTTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 228 202 0.002149983 0.00250796 0.002328972 0.9964392 0.9866083 0.9941129 0.9902173 NA NA -0.9919629 -0.9877093 0.9915237 0.9921651 NA -0.9898361 NA TRUE NA 0.805 2.309 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA ACC C,A 8.236e-06 7:47813930 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 splice_donor_variant 3.700151 0.98582 0.77623 0.053691 0.9678834 0.944998 0.0006095724 FALSE 4.06213e-06 ENSE00001137121_005 ENSE00001137121 005 7 47853491 47853660 - 38 84 48 A T 47853536 1007 125 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTAATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813937 47813938 47813938 exon -8 0.9166667 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTAATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 59 3021 0.9672769 0.9989186 0.9830977 0.9964392 0.9866083 0.9941129 0.9902173 NA NA -0.02683601 0.008701274 0.9915237 0.9921651 NA -0.009067366 NA FALSE NA 0 -0.701 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA TAA A,T 8.236e-06 7:47813938 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 stop_gained 10.93928 0.16484 0.02171 0.554377 0.9710552 0 0.0006095724 FALSE 4.0619e-06 ENSE00001137121_006 ENSE00001137121 006 7 47853491 47853660 - 38 84 48 G C 47853540 1008 121 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGGATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813941 47813942 47813942 exon -12 0.8690476 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGGATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 1620 328 0.9959915 0.9943535 0.9951725 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.00187861 0.004136199 0.9915237 0.9921651 NA 0.003007405 NA FALSE NA 0 -0.823 rs189308323 intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 rs189308323 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TGC G,C 0.00014 7:47813942 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 missense_variant -0.695896 0.16569 0.00894 0.554377 0.7341194 0 0.0006095724 FALSE 0.000186867 ENSE00001137121_007 ENSE00001137121 007 7 47853491 47853660 - 38 84 48 A C 47853544 1009 117 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCGAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813945 47813946 47813946 exon -16 0.8214286 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCGAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 21 342 1 1 1 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.005887093 0.009782707 0.9915237 0.9921651 NA 0.0078349 NA FALSE NA 0 -0.579 rs144104737 intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 rs144104737 1 NA C:0.0002 C:0 TAG A,C 8.236e-06 7:47813946 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 synonymous_variant -1.204318 0.14235 0.02101 0.554377 0.6294829 0 0.0006095724 FALSE NA ENSE00001137121_008 ENSE00001137121 008 7 47853491 47853660 - 38 84 48 T G 47853555 1010 106 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTACAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813956 47813957 47813957 exon -27 0.6904762 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTACAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 885 1115 1 0.999452 0.999726 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.005887093 0.009234724 0.9915237 0.9921651 NA 0.007560908 NA FALSE NA 0.002 1 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA TTT T,G 8.236e-06 7:47813957 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 missense_variant 0.338244 0.24627 0.07963 0.554377 0.930569 0 0.0006095724 FALSE 4.06171e-06 ENSE00001137121_010 ENSE00001137121 010 7 47853491 47853660 - 38 84 48 C A 47853562 1012 99 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGTCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813963 47813964 47813964 exon -34 0.6071429 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGTCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 532 1588 0.9956507 0.9212679 0.9584593 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.001537814 -0.06894941 0.9915237 0.9921651 NA -0.0337058 NA FALSE NA 0.001 -0.057 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 rs370214565 1 A:0.0012 A:0 A:0 NA A:0 A:0 A:0.0061 GCC C,A 0.0004448 7:47813964 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 missense_variant 1.223462 0.22228 0.05146 0.554377 0.8358946 0 0.0006095724 FALSE 0.000422459 ENSE00001137121_011 ENSE00001137121 011 7 47853491 47853660 - 38 84 48 T C 47853567 1013 94 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAGTTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813968 47813969 47813969 exon -39 0.547619 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAGTTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 700 487 0.8227476 0.8051654 0.8139565 0.9964392 0.9866083 0.9941129 0.9902173 NA NA -0.1713653 -0.1850519 0.9915237 0.9921651 NA -0.1782086 NA FALSE NA 0.01 0.558 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA ATT T,C 3.295e-05 7:47813969 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 missense_variant -0.509756 0.2414 0.05076 0.554377 0.6091879 0 0.0006095724 FALSE 2.43728e-05 ENSE00001137121_012 ENSE00001137121 012 7 47853491 47853660 - 38 84 48 C T 47853570 1014 91 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCATAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813971 47813972 47813972 exon -42 0.5119048 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCATAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 558 645 0.9907327 1 0.9953664 0.9964392 0.9866083 0.9941129 0.9902173 NA NA -0.003380174 0.009782707 0.9915237 0.9921651 NA 0.003201266 NA FALSE NA 0 -0.488 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 rs373810606 1 NA T:0 T:0.0001 ACG C,T 4.118e-05 7:47813972 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 missense_variant -0.178823 0.16102 0.01969 0.554377 0.4909643 0 0.0006095724 FALSE 2.03128e-05 ENSE00001137121_013 ENSE00001137121 013 7 47853491 47853660 - 38 84 48 A G 47853581 1015 80 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAACAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813982 47813983 47813983 exon 32 0.3809524 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAACAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 124 71 1 1 1 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.005887093 0.009782707 0.9915237 0.9921651 NA 0.0078349 NA FALSE NA 0.173 1.433 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA TAT A,G 8.236e-06 7:47813983 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 missense_variant 0.54545 0.47268 0.10747 0.554377 0.8037616 0 0.0006095724 FALSE 1.21895e-05 ENSE00001137121_014 ENSE00001137121 014 7 47853491 47853660 - 38 84 48 G A 47853585 1016 76 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACTTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813986 47813987 47813987 exon 28 0.3333333 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACTTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 736 405 0.9952208 0.9976053 0.996413 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.001107886 0.007388004 0.9915237 0.9921651 NA 0.004247945 NA FALSE NA 1 4.667 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA AGG G,A 8.236e-06 7:47813987 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 synonymous_variant 0.047847 0.63325 0.85138 0.554377 0.6013931 0 0.0006095724 FALSE 2.43845e-05 ENSE00001137121_015 ENSE00001137121 015 7 47853491 47853660 - 38 84 48 T C 47853593 1017 68 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAGATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47813994 47813995 47813995 exon 20 0.2380952 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAGATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 241 507 1 0.9993864 0.9996932 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.005887093 0.009169111 0.9915237 0.9921651 NA 0.007528102 NA FALSE NA 0.011 -0.089 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA TTT T,C 8.236e-06 7:47813995 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 missense_variant 0.991168 0.21447 0.03468 0.554377 0.9008388 0 0.0006095724 FALSE 1.62628e-05 ENSE00001137121_016 ENSE00001137121 016 7 47853491 47853660 - 38 84 48 C T 47853600 1018 61 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTAGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47814001 47814002 47814002 exon 13 0.1547619 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTAGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 130 4065 0.9964446 0.9427322 0.9695884 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.002331659 -0.04748505 0.9915237 0.9921651 NA -0.02257669 NA FALSE NA 0.549 1.533 rs147316882 intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 rs147316882&COSM3995617 1 NA T:0 T:0.0001 CCA C,T 1.647e-05 7:47814002 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 missense_variant 5.73099 0.96991 0.49946 0.554377 0.9980339 0 0.0006095724 FALSE 1.22031e-05 ENSE00001137121_018 ENSE00001137121 018 7 47853491 47853660 - 38 84 48 A G 47853618 1020 43 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCCTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47814019 47814020 47814020 upstr_intron -6 -0.1041667 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCCTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 1322 269 0.6962588 0.8009393 0.748599 0.9964392 0.9866083 0.9941129 0.9902173 NA NA -0.2978541 -0.189278 0.9915237 0.9921651 NA -0.2435661 NA FALSE NA 0 0.283 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA AAG A,G 4.942e-05 7:47814020 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 splice_region_variant -0.120298 0.20135 0.02267 0.053691 0.7339299 0.0903791 0.0006095724 FALSE 5.30963e-05 ENSE00001137121_019 ENSE00001137121 019 7 47853491 47853660 - 38 84 48 A G 47853625 1021 36 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTCTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47814026 47814027 47814027 upstr_intron -13 -0.25 TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTCTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 772 2113 0.9978093 0.9860243 0.9919168 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.003696358 -0.004193022 0.9915237 0.9921651 NA -0.000248332 NA FALSE NA 0.002 0.643 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA AAA A,G 1.647e-05 7:47814027 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 intron_variant -0.028365 0.12475 0.05861 0.053691 0.4318267 0.0845442 0.0006095724 FALSE 1.63685e-05 ENSE00001137121_020 ENSE00001137121 020 7 47853491 47853660 - 38 84 48 G T 47853629 1022 32 TGAAGTCCACAGCACACCCAGTCCTCATCATATTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47814030 47814031 47814031 upstr_intron -17 -0.3333333 TGAAGTCCACAGCACACCCAGTCCTCATCATATTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 453 16 0.9716835 1 0.9858417 0.9964392 0.9866083 0.9941129 0.9902173 NA NA -0.02242942 0.009782707 0.9915237 0.9921651 NA -0.006323359 NA FALSE NA 0 -1.689 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 1 NA AGA G,T 3.295e-05 7:47814031 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 intron_variant -0.143402 0.15545 0.01101 0.053691 0.5143245 0.0461852 0.0006095724 FALSE 3.69364e-05 ENSE00001137121_021 ENSE00001137121 021 7 47853491 47853660 - 38 84 48 G A 47853635 1023 26 TGAAGTCCACAGCACACCCAGTCCTTATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT 47813892 47814062 47814036 47814037 47814037 upstr_intron -23 -0.4583333 TGAAGTCCACAGCACACCCAGTCCTTATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT TGAAGTCCACAGCACACCCAGTCCTCATCATCTTTTTTCTCCTTTCAGCCTGGAGCTCTTGGAGGAAAATGCTACCTAATAGGCAGTTCCGTAATTAGGCAGCTAAAAGTTTTTCCTAGGCATTTATGCAAGGTAAGATGTTCCTTTTCCTTTTGCTTCCAAGAATAAAT mutant NA NA NA NA NA 1984 684 0.9982187 0.9999443 0.9990815 0.9964392 0.9866083 0.9941129 0.9902173 NA NA 0.004105822 0.009727049 0.9915237 0.9921651 NA 0.006916435 NA FALSE NA 0 -0.405 . intron_variant&NMD_transcript_variant MODIFIER HUS1 HGNC 5309 ENST00000436444 8/8 rs375716589 1 NA A:0.0009 A:0 TGA G,A 8.237e-05 7:47814037 HUS1 HGNC Symbol protein_coding 283851 ENSG00000136273 ENSE00003620218 intron_variant 0.14241 0.15093 0.01586 0.053691 0.4559316 0.0461852 0.0006095724 FALSE 6.18292e-05 ENSE00001146174_003 ENSE00001146174 003 16 4405251 4405420 - 36 87 47 G T 4405268 249 153 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTAACTTCCCGGCAGGCAGC 4355249 4355419 4355266 4355267 4355267 downstr_intron 19 1.542857 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTAACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 174 11 0.9568199 1 0.9784099 0.992315 0.9893464 0.9892568 0.9868863 NA NA -0.03243696 0.01311374 0.9908307 0.9880715 NA -0.009661609 NA FALSE NA 0 0.085 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA TGA G,T 8.238e-06 16:4355267 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant -0.725937 0.06383 0.0886 0.634777 0.7548439 0 0.1440115 FALSE 4.09249e-06 ENSE00001146174_004 ENSE00001146174 004 16 4405251 4405420 - 36 87 47 G A 4405271 250 150 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGTCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355269 4355270 4355270 downstr_intron 16 1.457143 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGTCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 537 82 0.9946934 0.968279 0.9814862 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.005436585 -0.01860728 0.9908307 0.9880715 NA -0.00658535 NA FALSE NA 0 -2.621 rs80301739 upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 rs80301739 1 A:0.0076 A:0.025 A:0.0058 NA A:0 A:0.001 A:0 A:0.0278 A:0.0001 GGC G,A 0.002331 16:4355270 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 0.390256 0.24173 0.04889 0.634777 0.9140935 0 0.1440115 FALSE 0.00181201 ENSE00001146174_007 ENSE00001146174 007 16 4405251 4405420 - 36 87 47 A G 4405274 253 147 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGCGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355272 4355273 4355273 downstr_intron 13 1.371429 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGCGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 14 35 1 1 1 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 0.01311374 0.9908307 0.9880715 NA 0.01192846 NA FALSE NA 0 0.109 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA CAC A,G 8.238e-06 16:4355273 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 0.592687 0.23629 0.0695 0.634777 0.7672351 0 0.1440115 FALSE 4.08747e-06 ENSE00001146174_009 ENSE00001146174 009 16 4405251 4405420 - 36 87 47 C T 4405290 255 131 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAATGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355288 4355289 4355289 exon -4 0.9655172 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAATGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 94 735 1 1 1 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 0.01311374 0.9908307 0.9880715 NA 0.01192846 NA FALSE NA 1 0.996 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA ACT C,T 1.648e-05 16:4355289 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 synonymous_variant 1.839715 0.90005 0.69571 0.706548 0.8934273 0 0.1440115 FALSE 3.67374e-05 ENSE00001146174_010 ENSE00001146174 010 16 4405251 4405420 - 36 87 47 C T 4405292 256 129 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACAAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355290 4355291 4355291 exon -6 0.9425287 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACAAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 42 73 1 0.9149569 0.9574785 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 -0.07192933 0.9908307 0.9880715 NA -0.03059307 NA FALSE NA 1 7.169 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 rs201397239 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCG C,T 1.648e-05 16:4355291 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 8.054084 0.96395 0.96955 0.706548 0.999243 0 0.1440115 FALSE 1.22445e-05 ENSE00001146174_012 ENSE00001146174 012 16 4405251 4405420 - 36 87 47 C G 4405298 258 123 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACCAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355296 4355297 4355297 exon -12 0.8735632 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACCAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant 25 38 0.85 0.9576652 0.9038326 63 283 1 1 1 0.992315 0.9893464 0.9892568 0.9868863 -0.142315 -0.03168121 0.01074318 0.01311374 0.9908307 0.9880715 -0.08699809 0.01192846 0.09892655 FALSE FALSE 1 7.223 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 rs374448017 1 NA TCG C,G 8.238e-06 16:4355297 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 6.968812 0.96524 0.94268 0.706548 0.997993 0 0.1440115 FALSE 4.07894e-06 ENSE00001146174_015 ENSE00001146174 015 16 4405251 4405420 - 36 87 47 C T 4405301 261 120 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGAACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355299 4355300 4355300 exon -15 0.8390805 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGAACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 15 70 0.95 1 0.975 0.992315 0.9893464 0.9892568 0.9868863 NA NA -0.03925682 0.01311374 0.9908307 0.9880715 NA -0.01307154 NA FALSE NA 1 7.223 rs138215306 upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 rs138215306 1 NA T:0.0002 T:0 TCC C,T 1.648e-05 16:4355300 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 7.464208 0.96395 0.92963 0.706548 0.9993149 0 0.1440115 FALSE 4.07817e-06 ENSE00001146174_018 ENSE00001146174 018 16 4405251 4405420 - 36 87 47 G A 4405305 264 116 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGTGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355303 4355304 4355304 exon -19 0.7931034 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGTGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 16 1589 0.9537464 0.9501332 0.9519398 0.992315 0.9893464 0.9892568 0.9868863 NA NA -0.03551038 -0.03675305 0.9908307 0.9880715 NA -0.03613171 NA FALSE NA 0 -2.167 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA CGC G,A 1.648e-05 16:4355304 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 synonymous_variant 1.80626 0.36669 0.05993 0.706548 0.910186 0 0.1440115 FALSE 2.03978e-05 ENSE00001146174_019 ENSE00001146174 019 16 4405251 4405420 - 36 87 47 T C 4405321 265 100 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCGGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355319 4355320 4355320 exon -35 0.6091954 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCGGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 18 20 0 0 0 0.992315 0.9893464 0.9892568 0.9868863 NA NA -0.9892568 -0.9868863 0.9908307 0.9880715 NA -0.9880715 NA TRUE NA 1 7.427 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA CTG T,C 8.238e-06 16:4355320 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 5.745063 0.9562 0.92531 0.706548 0.9984065 0 0.1440115 FALSE NA ENSE00001146174_020 ENSE00001146174 020 16 4405251 4405420 - 36 87 47 G T 4405326 266 95 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTACCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355324 4355325 4355325 exon -40 0.5517241 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTACCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 21 106 1 1 1 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 0.01311374 0.9908307 0.9880715 NA 0.01192846 NA FALSE NA 0.814 0.013 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 rs574842062 1 NA GGA G,T 8.238e-06 16:4355325 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 synonymous_variant 0.393261 0.90755 0.55261 0.706548 0.8300855 0 0.1440115 FALSE 4.08754e-06 ENSE00001146174_021 ENSE00001146174 021 16 4405251 4405420 - 36 87 47 T C 4405329 267 92 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCGCTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355327 4355328 4355328 exon -43 0.5172414 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCGCTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 109 407 1 0.9933359 0.996668 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 0.006449658 0.9908307 0.9880715 NA 0.008596417 NA FALSE NA 0 -7.983 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA GTG T,C 8.238e-06 16:4355328 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 synonymous_variant -0.342525 0.13857 0.02242 0.706548 0.4878327 0 0.1440115 FALSE 4.08888e-06 ENSE00001146174_022 ENSE00001146174 022 16 4405251 4405420 - 36 87 47 G A 4405332 268 89 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGATCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355330 4355331 4355331 exon 42 0.4827586 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGATCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 79 583 1 0.9997286 0.9998643 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 0.01284237 0.9908307 0.9880715 NA 0.01179277 NA FALSE NA 1 3.028 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA GGT G,A 8.238e-06 16:4355331 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 synonymous_variant 0.393226 0.91612 0.81201 0.706548 0.7830266 0 0.1440115 FALSE 1.22831e-05 ENSE00001146174_024 ENSE00001146174 024 16 4405251 4405420 - 36 87 47 C T 4405337 270 84 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGAAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355335 4355336 4355336 exon 37 0.4252874 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGAAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 215 350 1 1 1 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 0.01311374 0.9908307 0.9880715 NA 0.01192846 NA FALSE NA 1 5.526 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA TCC C,T 2.471e-05 16:4355336 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 3.412929 0.94848 0.89278 0.706548 0.9980526 0 0.1440115 FALSE 3.68952e-05 ENSE00001146174_025 ENSE00001146174 025 16 4405251 4405420 - 36 87 47 C T 4405339 271 82 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCAGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355337 4355338 4355338 exon 35 0.4022989 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCAGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant 17 30 0.991404 0.9519126 0.9716583 NA NA NA NA NA 0.992315 0.9893464 0.9892568 0.9868863 -0.0009109956 -0.03743381 NA NA 0.9908307 0.9880715 -0.0191724 NA NA NA FALSE 1 5.582 rs148884268 upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 rs148884268 1 NA T:0 T:0.0002 CCG C,T 6.59e-05 16:4355338 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 5.554033 0.94545 0.84936 0.706548 0.9993761 0 0.1440115 FALSE 2.8726e-05 ENSE00001146174_030 ENSE00001146174 030 16 4405251 4405420 - 36 87 47 G A 4405362 276 59 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCTATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355360 4355361 4355361 exon 12 0.137931 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCTATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 1410 34 0.9974601 1 0.9987301 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.0082033 0.01311374 0.9908307 0.9880715 NA 0.01065852 NA FALSE NA 1 1.407 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA TGG G,A 8.239e-06 16:4355361 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 synonymous_variant 0.334318 0.97178 0.85947 0.706548 0.7211119 0 0.1440115 FALSE 4.14436e-06 ENSE00001146174_031 ENSE00001146174 031 16 4405251 4405420 - 36 87 47 A T 4405372 277 49 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCAGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355370 4355371 4355371 exon 2 0.02298851 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCAGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant 55 156 0.3470237 0.2418369 0.2944303 NA NA NA NA NA 0.992315 0.9893464 0.9892568 0.9868863 -0.6452913 -0.7475095 NA NA 0.9908307 0.9880715 -0.6964004 NA NA NA TRUE 1 8.637 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 1 NA CAG A,T 8.24e-06 16:4355371 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 missense_variant 4.017838 0.98894 0.98437 0.706548 0.992048 0 0.1440115 FALSE 4.19519e-06 ENSE00001146174_034 ENSE00001146174 034 16 4405251 4405420 - 36 87 47 G A 4405386 280 35 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGTCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355384 4355385 4355385 upstr_intron -13 -0.2553191 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGTCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 24 137 0.9446034 1 0.9723017 0.992315 0.9893464 0.9892568 0.9868863 NA NA -0.04465347 0.01311374 0.9908307 0.9880715 NA -0.01576986 NA FALSE NA 0 -0.031 . upstream_gene_variant MODIFIER PAM16 HGNC 29679 ENST00000577031 rs374796627 1 NA A:0.0002 A:0 GGC G,A 1.649e-05 16:4355385 PAM16 HGNC Symbol protein_coding 24058 ENSG00000217930 ENSE00003558774 intron_variant -0.187878 0.16371 0.00643 0.062308 0.4183925 0.143667 0.1440115 FALSE 2.14432e-05 ENSE00001160371_002 ENSE00001160371 002 3 14201206 14201375 - 35 90 45 C T 14201231 206 145 TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCACAGGGCTGCCAGAGAAGAGGAGCAA 14159705 14159875 14159730 14159731 14159731 downstr_intron 10 1.294118 TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCACAGGGCTGCCAGAGAAGAGGAGCAA TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA mutant NA NA NA NA NA 60 136 1 1 1 NA NA 0.9069922 0.9986743 NA NA 0.09300781 0.001325722 NA 0.9528332 NA 0.04716676 NA FALSE NA 0 0.028 . intron_variant&non_coding_transcript_variant MODIFIER XPC HGNC 12816 ENST00000477324 4/4 rs558239934 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 GCG C,T 0.000181 3:14159731 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003633829 non_coding_transcript_exon_variant 0.439912 0.23355 0.09243 0.156188 0.6609463 0.0469094 1.317133e-10 FALSE 0.000327739 ENSE00001160371_004 ENSE00001160371 004 3 14201206 14201375 - 35 90 45 G C 14201245 208 131 TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGGAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA 14159705 14159875 14159744 14159745 14159745 exon -5 0.9555556 TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGGAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA mutant NA NA NA NA NA 108 198 0.98125 0.9485957 0.9649229 NA NA 0.9069922 0.9986743 NA NA 0.07425785 -0.05007857 NA 0.9528332 NA 0.01208964 NA FALSE NA 0.148 1.426 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER XPC HGNC 12816 ENST00000477324 4/5 rs371556667 1 NA C:0.0003 C:0 TGC G,C 8.525e-06 3:14159745 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003633829 missense_variant 2.616124 0.45949 0.53743 0.706548 0.9867522 0 1.317133e-10 FALSE 5.93e-06 ENSE00001160371_007 ENSE00001160371 007 3 14201206 14201375 - 35 90 45 T C 14201337 211 39 TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCGTCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA 14159705 14159875 14159836 14159837 14159837 upstr_intron -7 -0.1333333 TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCGTCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA TTAATTACTTTCTTAGGATAACTATGTTCTTCCTTTTCATCATAGATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAGCCAATTCCTCTGAAGTCAGCAACAGCAAAGGTGAGGTGCGCAGGGCTGCCAGAGAAGAGGAGCAA mutant NA NA NA NA NA 119 67 1 1 1 NA NA 0.9069922 0.9986743 NA NA 0.09300781 0.001325722 NA 0.9528332 NA 0.04716676 NA FALSE NA 0.002 -1.128 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW XPC HGNC 12816 ENST00000477324 3/4 1 NA ATG T,C 9.718e-06 3:14159837 XPC HGNC Symbol protein_coding 33636 ENSG00000154767 ENSE00003633829 splice_region_variant 0.394272 0.19107 0.07918 0.099367 0.5585517 0.0976695 1.317133e-10 FALSE 6.49908e-06 ENSE00001165456_001 ENSE00001165456 001 15 80847353 80847522 + 53 75 42 T C 80847382 2228 30 ACAAATAATTACAAATGGATCTGGGATTACTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555040 80555041 80555041 upstr_intron -24 -0.4339623 ACAAATAATTACAAATGGATCTGGGATTACTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 1377 2116 0.9965175 0.9928924 0.9947049 0.9962836 1 0.9221783 0.9053044 NA NA 0.07433912 0.08758807 0.9981418 0.9137414 NA 0.0809636 NA FALSE NA 0 -0.761 . intron_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 2/4 1 NA ATT T,C 8.236e-06 15:80555041 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 non_coding_transcript_exon_variant -0.673095 0.10261 0.02538 0.053691 0.4555939 0.137989 0.9590197 TRUE 4.06246e-06 ENSE00001165456_003 ENSE00001165456 003 15 80847353 80847522 + 53 75 42 T A 80847408 2230 56 CAGACTATGCATCAGCTTTAAGTGGGTACTGGCAGTATGTACCTGCTGGAAGCTCTCACGCAGATGGCTTTGATCCTCAGGGTGGCAGAATTCCAAAATGTCCTTTCCCAGAAGTTCCTAAATAAAAGAGACAAGCTTTAATAATCCCAGATCCATTTGTAATTATTTGT 80555011 80555181 80555066 80555067 80555067 exon 3 0.04 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGAACTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 210 1447 0.985114 1 0.992557 0.9962836 1 0.9221783 0.9053044 NA NA 0.06293568 0.09469563 0.9981418 0.9137414 NA 0.07881566 NA FALSE NA 0.914 -0.072 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ARNT2 HGNC 16876 ENST00000558849 3/5 1 NA ATC T,A 8.236e-06 15:80555067 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 missense_variant 2.009051 0.91455 0.64514 0.706298 0.811055 0 0.9590197 TRUE 8.12361e-06 ENSE00001165456_005 ENSE00001165456 005 15 80847353 80847522 + 53 75 42 T C 80847425 2232 73 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACACTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555083 80555084 80555084 exon 20 0.2666667 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACACTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 59 273 0.8948749 1 0.9474375 0.9962836 1 0.9221783 0.9053044 NA NA -0.02730339 0.09469563 0.9981418 0.9137414 NA 0.03369612 NA FALSE NA 1 7.033 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/5 rs570778313 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 ATT T,C 8.236e-06 15:80555084 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 missense_variant 4.580992 0.98627 0.96832 0.615465 0.9969026 0 0.9590197 TRUE 4.06194e-06 ENSE00001165456_006 ENSE00001165456 006 15 80847353 80847522 + 53 75 42 C T 80847456 2233 104 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGTCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555114 80555115 80555115 exon -25 0.68 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGTCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant 39 25 0.899126 0.932924 0.916025 2250 708 0.9052606 0.9948791 0.9500698 0.9962836 1 0.9221783 0.9053044 -0.09715758 -0.067076 -0.01691777 0.08957472 0.9981418 0.9137414 -0.08211679 0.03632847 0.1184453 FALSE FALSE 1 1.556 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/5 1 NA GCC C,T 1.647e-05 15:80555115 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 synonymous_variant 2.296247 0.98542 0.89564 0.615465 0.7900607 0 0.9590197 TRUE 1.62532e-05 ENSE00001165456_007 ENSE00001165456 007 15 80847353 80847522 + 53 75 42 C T 80847463 2234 111 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGTGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555121 80555122 80555122 exon -18 0.7733333 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGTGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 717 597 0.9971526 0.9963002 0.9967264 0.9962836 1 0.9221783 0.9053044 NA NA 0.07497424 0.09099583 0.9981418 0.9137414 NA 0.08298504 NA FALSE NA 1 1.733 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/5 1 NA GCG C,T 8.236e-06 15:80555122 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 missense_variant 5.810162 0.97119 0.83246 0.615465 0.9988809 0 0.9590197 TRUE 1.21907e-05 ENSE00001165456_008 ENSE00001165456 008 15 80847353 80847522 + 53 75 42 G A 80847464 2235 112 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCATGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555122 80555123 80555123 exon -17 0.7866667 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCATGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 1024 82 0.9946133 0.9164687 0.955541 0.9962836 1 0.9221783 0.9053044 NA NA 0.07243502 0.01116437 0.9981418 0.9137414 NA 0.04179969 NA FALSE NA 1 8.638 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/5 rs377000120 1 NA A:0 A:0.0002 CGT G,A 4.118e-05 15:80555123 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 missense_variant 6.185112 0.99364 0.9874 0.615465 0.9973821 0 0.9590197 TRUE 2.84483e-05 ENSE00001165456_009 ENSE00001165456 009 15 80847353 80847522 + 53 75 42 T G 80847472 2236 120 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCGTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555130 80555131 80555131 exon -9 0.8933333 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCGTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 1073 1152 0.9977869 0.996153 0.99697 0.9962836 1 0.9221783 0.9053044 NA NA 0.07560859 0.09084865 0.9981418 0.9137414 NA 0.08322862 NA FALSE NA 1 7.033 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/5 1 NA CTT T,G 8.236e-06 15:80555131 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 missense_variant 4.940256 0.99187 0.9811 0.615465 0.9926696 0 0.9590197 TRUE 8.12955e-06 ENSE00001165456_010 ENSE00001165456 010 15 80847353 80847522 + 53 75 42 T C 80847473 2237 121 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTCCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555131 80555132 80555132 exon -8 0.9066667 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTCCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 2130 1103 0.9966111 0.9997183 0.9981647 0.9962836 1 0.9221783 0.9053044 NA NA 0.07443275 0.09441394 0.9981418 0.9137414 NA 0.08442334 NA FALSE NA 1 7.033 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/5 rs539847632 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TTC T,C 8.236e-06 15:80555132 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 missense_variant 4.737524 0.99161 0.97722 0.615465 0.9988955 0 0.9590197 TRUE 4.06448e-06 ENSE00001165456_011 ENSE00001165456 011 15 80847353 80847522 + 53 75 42 C T 80847491 2238 139 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGTCAGTACCCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555149 80555150 80555150 downstr_intron 11 1.268293 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGTCAGTACCCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 1170 756 0.9998944 0.9997907 0.9998426 0.9962836 1 0.9221783 0.9053044 NA NA 0.0777161 0.09448638 0.9981418 0.9137414 NA 0.08610124 NA FALSE NA 0 0.138 . intron_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/4 1 NA GCC C,T 8.236e-06 15:80555150 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 non_coding_transcript_exon_variant 0.645672 0.18787 0.01875 0.053691 0.7611621 0.0484717 0.9590197 TRUE 4.06845e-06 ENSE00001165456_012 ENSE00001165456 012 15 80847353 80847522 + 53 75 42 C T 80847498 2239 146 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACTCACTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555156 80555157 80555157 downstr_intron 18 1.439024 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACTCACTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 891 2776 0.80842 0.9950772 0.9017486 0.9962836 1 0.9221783 0.9053044 NA NA -0.1137583 0.08977279 0.9981418 0.9137414 NA -0.01199277 NA FALSE NA 0 -1.232 . intron_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/4 1 NA CCC C,T 1.647e-05 15:80555157 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 non_coding_transcript_exon_variant 0.498731 0.19617 0.0199 0.053691 0.3820602 0.0484717 0.9590197 TRUE 1.62828e-05 ENSE00001165456_013 ENSE00001165456 013 15 80847353 80847522 + 53 75 42 C G 80847501 2240 149 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCAGTTAAAGCTGATGCATAGTCTG 80555011 80555181 80555159 80555160 80555160 downstr_intron 21 1.512195 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCAGTTAAAGCTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 418 460 1 0.9958517 0.9979258 0.9962836 1 0.9221783 0.9053044 NA NA 0.07782167 0.09054729 0.9981418 0.9137414 NA 0.08418448 NA FALSE NA 0 -0.293 . intron_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/4 1 NA ACT C,G 8.237e-06 15:80555160 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 non_coding_transcript_exon_variant 0.004443 0.17519 0.03343 0.053691 0.4899541 0.0484717 0.9590197 TRUE 4.07156e-06 ENSE00001165456_014 ENSE00001165456 014 15 80847353 80847522 + 53 75 42 G A 80847507 2241 155 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAACTGATGCATAGTCTG 80555011 80555181 80555165 80555166 80555166 downstr_intron 27 1.658537 ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAACTGATGCATAGTCTG ACAAATAATTACAAATGGATCTGGGATTATTAAAGCTTGTCTCTTTTATTTAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGCTTCCAGCAGGTACATACTGCCAGTACCCACTTAAAGCTGATGCATAGTCTG mutant NA NA NA NA NA 850 1226 0.9923398 1 0.9961699 0.9962836 1 0.9221783 0.9053044 NA NA 0.07016143 0.09469563 0.9981418 0.9137414 NA 0.08242853 NA FALSE NA 0 -0.3 . intron_variant&non_coding_transcript_variant MODIFIER ARNT2 HGNC 16876 ENST00000558849 3/4 1 NA AGC G,A 8.237e-06 15:80555166 ARNT2 HGNC Symbol protein_coding 193587 ENSG00000172379 ENSE00003528652 non_coding_transcript_exon_variant 0.392756 0.22195 0.0448 0.053691 0.6478595 0.0484717 0.9590197 TRUE 4.07481e-06 ENSE00001169949_002 ENSE00001169949 002 15 93470427 93470596 + 47 87 36 A G 93470444 2570 18 GTTTAAATGCATGCCCTTAAAACATTTTTTCCTTACCTCTTCCTTAATATTAAATCGCGATGGTTCTTGTCTGCTTCGGTTTGACCGCCTGACCCCATAAACATCAGGATATTCTTCCCACATCTGTAAAATTAAGAGACCACGCATTAATCCTTTTTCTTGACCCCCAT 92927196 92927366 92927213 92927214 92927214 upstr_intron -30 -0.6170213 ATGGGGGTCAAGAAAAAGGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC mutant NA NA NA NA NA 937 428 0.8869207 1 0.9434603 NA NA 0.9523942 0.9969189 NA NA -0.06547355 0.00308109 NA 0.9746566 NA -0.03119623 NA FALSE NA 0.689 -0.36 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557381 3/37 rs564059121 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 AAG A,G 0.0001977 15:92927214 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003459914 intron_variant 0.206251 0.16939 0.02695 0.295142 0.521803 0.044906 1 TRUE 0.000173788 ENSE00001169949_003 ENSE00001169949 003 15 93470427 93470596 + 47 87 36 T C 93470451 2571 25 GTTTAAATGCATGCCCTTAAAACATTTTTTCCTTACCTCTTCCTTAATATTAAATCGCGATGGTTCTTGTCTGCTTCGGTTTGACCGCCTGACCCCATAAACATCAGGATATTCTTCCCACATCTGTAAAATTAAGAGACCACGCGTTAATCTTTTTTCTTGACCCCCAT 92927196 92927366 92927220 92927221 92927221 upstr_intron -23 -0.4680851 ATGGGGGTCAAGAAAAAAGATTAACGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC mutant NA NA NA NA NA 197 443 1 0.9986135 0.9993068 NA NA 0.9523942 0.9969189 NA NA 0.04760577 0.001694622 NA 0.9746566 NA 0.02465019 NA FALSE NA 0.003 0.269 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557381 3/37 1 NA ATG T,C 8.236e-06 15:92927221 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003459914 intron_variant 0.127981 0.20736 0.17577 0.295142 0.4190816 0.044906 1 TRUE 8.24042e-06 ENSE00001169949_008 ENSE00001169949 008 15 93470427 93470596 + 47 87 36 G T 93470457 2576 31 GTTTAAATGCATGCCCTTAAAACATTTTTTCCTTACCTCTTCCTTAATATTAAATCGCGATGGTTCTTGTCTGCTTCGGTTTGACCGCCTGACCCCATAAACATCAGGATATTCTTCCCACATCTGTAAAATTAAGAGAACACGCATTAATCTTTTTTCTTGACCCCCAT 92927196 92927366 92927226 92927227 92927227 upstr_intron -17 -0.3404255 ATGGGGGTCAAGAAAAAAGATTAATGCGTGTTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC mutant NA NA NA NA NA 1062 75 0.9996896 1 0.9998448 NA NA 0.9523942 0.9969189 NA NA 0.04729535 0.00308109 NA 0.9746566 NA 0.02518822 NA FALSE NA 0.976 0.959 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557381 3/37 1 NA GGT G,T 8.236e-06 15:92927227 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003459914 intron_variant 0.242224 0.65292 0.8498 0.295142 0.6128132 0.0456277 1 TRUE 4.10681e-06 ENSE00001169949_012 ENSE00001169949 012 15 93470427 93470596 + 47 87 36 A G 93470572 2580 146 GTTTAAATGCATGCCCTTAAAACACTTTTTCCTTACCTCTTCCTTAATATTAAATCGCGATGGTTCTTGTCTGCTTCGGTTTGACCGCCTGACCCCATAAACATCAGGATATTCTTCCCACATCTGTAAAATTAAGAGACCACGCATTAATCTTTTTTCTTGACCCCCAT 92927196 92927366 92927341 92927342 92927342 downstr_intron 12 1.342857 ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAGTGTTTTAAGGGCATGCATTTAAAC ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC mutant NA NA NA NA NA 1046 231 1 1 1 NA NA 0.9523942 0.9969189 NA NA 0.04760577 0.00308109 NA 0.9746566 NA 0.02534343 NA FALSE NA 0.126 1.336 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557381 4/37 1 NA AAT A,G 8.237e-06 15:92927342 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003459914 intron_variant 0.522464 0.17675 0.10996 0.099367 0.5777289 0.0456277 1 TRUE 4.08173e-06 ENSE00001169949_013 ENSE00001169949 013 15 93470427 93470596 + 47 87 36 G T 93470574 2581 148 GTTTAAATGCATGCCCTTAAAAAATTTTTTCCTTACCTCTTCCTTAATATTAAATCGCGATGGTTCTTGTCTGCTTCGGTTTGACCGCCTGACCCCATAAACATCAGGATATTCTTCCCACATCTGTAAAATTAAGAGACCACGCATTAATCTTTTTTCTTGACCCCCAT 92927196 92927366 92927343 92927344 92927344 downstr_intron 14 1.4 ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATTTTTTAAGGGCATGCATTTAAAC ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC mutant NA NA NA NA NA 112 661 1 0.942961 0.9714805 NA NA 0.9523942 0.9969189 NA NA 0.04760577 -0.05395796 NA 0.9746566 NA -0.003176095 NA FALSE NA 0 -1.597 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557381 4/37 1 NA TGT G,T 1.647e-05 15:92927344 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003459914 intron_variant -0.470833 0.07779 0.02421 0.099367 0.6324341 0.0463572 1 TRUE 8.18692e-06 ENSE00001169949_014 ENSE00001169949 014 15 93470427 93470596 + 47 87 36 G T 93470583 2582 157 GTTTAAATGCATGACCTTAAAACATTTTTTCCTTACCTCTTCCTTAATATTAAATCGCGATGGTTCTTGTCTGCTTCGGTTTGACCGCCTGACCCCATAAACATCAGGATATTCTTCCCACATCTGTAAAATTAAGAGACCACGCATTAATCTTTTTTCTTGACCCCCAT 92927196 92927366 92927352 92927353 92927353 downstr_intron 23 1.657143 ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGTCATGCATTTAAAC ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC mutant NA NA NA NA NA 1075 614 0.9947225 0.8946648 0.9446936 NA NA 0.9523942 0.9969189 NA NA 0.04232824 -0.1022541 NA 0.9746566 NA -0.02996293 NA FALSE NA 0.988 1.898 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557381 4/37 1 NA GGC G,T 2.471e-05 15:92927353 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003459914 intron_variant -0.182765 0.15666 0.62806 0.099367 0.551393 0.0463572 1 TRUE 1.65769e-05 ENSE00001169949_015 ENSE00001169949 015 15 93470427 93470596 + 47 87 36 A T 93470585 2583 159 GTTTAAATGCAAGCCCTTAAAACATTTTTTCCTTACCTCTTCCTTAATATTAAATCGCGATGGTTCTTGTCTGCTTCGGTTTGACCGCCTGACCCCATAAACATCAGGATATTCTTCCCACATCTGTAAAATTAAGAGACCACGCATTAATCTTTTTTCTTGACCCCCAT 92927196 92927366 92927354 92927355 92927355 downstr_intron 25 1.714286 ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCTTGCATTTAAAC ATGGGGGTCAAGAAAAAAGATTAATGCGTGGTCTCTTAATTTTACAGATGTGGGAAGAATATCCTGATGTTTATGGGGTCAGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAATATTAAGGAAGAGGTAAGGAAAAAATGTTTTAAGGGCATGCATTTAAAC mutant NA NA NA NA NA 205 991 1 1 1 NA NA 0.9523942 0.9969189 NA NA 0.04760577 0.00308109 NA 0.9746566 NA 0.02534343 NA FALSE NA 0 -0.214 . intron_variant MODIFIER CHD2 HGNC 1917 ENST00000557381 4/37 rs371973456 1 NA T:0 T:0.0001 CAT A,T 8.238e-06 15:92927355 CHD2 HGNC Symbol protein_coding 127816 ENSG00000173575 ENSE00003459914 intron_variant -0.221558 0.09321 0.0238 0.099367 0.4417903 0.0463572 1 TRUE 4.16077e-06 ENSE00001199313_002 ENSE00001199313 002 8 33354693 33354862 + 57 66 47 G C 33354715 775 23 GTCTAATCTGAATCTTCATTATCTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA 33497174 33497344 33497196 33497197 33497197 upstr_intron -35 -0.5964912 GTCTAATCTGAATCTTCATTATCTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA mutant NA NA NA NA NA 91 82 0.9900988 0.9753478 0.9827233 NA NA 0.9272448 0.875745 NA NA 0.06285397 0.09960279 NA 0.9014949 NA 0.08122838 NA FALSE NA 0 -0.064 . intron_variant MODIFIER MAK16 HGNC 13703 ENST00000360128 8/9 1 NA TGT G,C 8.236e-06 8:33497197 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003667045 intron_variant 0.284503 0.14397 0.04655 0.156188 0.7539321 0.122059 0.9939805 TRUE 8.21375e-06 ENSE00001199313_004 ENSE00001199313 004 8 33354693 33354862 + 57 66 47 C G 33354730 777 38 GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAAGAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA 33497174 33497344 33497211 33497212 33497212 upstr_intron -20 -0.3333333 GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAAGAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA mutant NA NA NA NA NA 38 1074 0 0.008367156 0.004183578 NA NA 0.9272448 0.875745 NA NA -0.9272448 -0.8673778 NA 0.9014949 NA -0.8973113 NA TRUE NA 0 -1.376 . intron_variant MODIFIER MAK16 HGNC 13703 ENST00000360128 8/9 1 NA ACA C,G 0.0002224 8:33497212 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003667045 intron_variant 1.36314 0.18455 0.0859 0.156188 0.7004187 0.12107 0.9939805 TRUE 0.000293274 ENSE00001199313_007 ENSE00001199313 007 8 33354693 33354862 + 57 66 47 A G 33354761 780 69 GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAGAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA 33497174 33497344 33497242 33497243 33497243 exon 12 0.1818182 GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAGAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA mutant NA NA NA NA NA 40 66 1 0.9813173 0.9906586 NA NA 0.9272448 0.875745 NA NA 0.07275515 0.1055723 NA 0.9014949 NA 0.08916371 NA FALSE NA 1 2.416 . synonymous_variant LOW MAK16 HGNC 13703 ENST00000360128 9/10 1 NA AAA A,G 8.236e-06 8:33497243 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003667045 synonymous_variant 0.324799 0.96119 0.77476 0.732398 0.8289217 0 0.9939805 TRUE 8.12361e-06 ENSE00001199313_018 ENSE00001199313 018 8 33354693 33354862 + 57 66 47 C T 33354821 791 129 GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGTTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA 33497174 33497344 33497302 33497303 33497303 downstr_intron 6 1.130435 GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGTTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA mutant NA NA NA NA NA 512 958 0.9999196 0.997211 0.9985653 NA NA 0.9272448 0.875745 NA NA 0.07267475 0.121466 NA 0.9014949 NA 0.09707037 NA FALSE NA 0.03 -0.546 . splice_region_variant&intron_variant LOW MAK16 HGNC 13703 ENST00000360128 9/9 1 NA GCT C,T 1.647e-05 8:33497303 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003667045 splice_region_variant 1.082179 0.26771 0.00909 0.106106 0.7542126 0.221691 0.9939805 TRUE 1.23421e-05 ENSE00001199313_019 ENSE00001199313 019 8 33354693 33354862 + 57 66 47 A G 33354835 792 143 GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAGGATTGTCCTTTGGCCTGCAGCAAAAAA 33497174 33497344 33497316 33497317 33497317 downstr_intron 20 1.434783 GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAGGATTGTCCTTTGGCCTGCAGCAAAAAA GTCTAATCTGAATCTTCATTATGTATTCTGAACCTAACAGTTATGTTTTATTTATAGGATGTGGGGAAAAGAGAATTTGTCGAAGATGGTGAGGTAGATGAGAGTGACATAAGTGATTTTGAGGTGAGCTTTATGGGTAAAAAGATTGTCCTTTGGCCTGCAGCAAAAAA mutant NA NA NA NA NA 106 194 0.9864413 0.976344 0.9813926 NA NA 0.9272448 0.875745 NA NA 0.05919643 0.100599 NA 0.9014949 NA 0.07989771 NA FALSE NA 0.007 0.635 . intron_variant MODIFIER MAK16 HGNC 13703 ENST00000360128 9/9 rs368728207 1 NA G:0.0002 G:0 AAG A,G 8.236e-06 8:33497317 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003667045 intron_variant 0.055257 0.25032 0.13917 0.106106 0.619619 0.125867 0.9939805 TRUE 4.20076e-06 ENSE00001252325_003 ENSE00001252325 003 8 41521139 41521308 - 38 84 48 G A 41521155 906 154 GCCTCTCCCCAGCACAAAGGGGAACACTCTGCACCCACCTTCTTGGTGACAATGTTGCCCTGCTCATCCGTGAATTGCTCCTCTGTCACCTGCTCCCCTGGAATATTCTGAAACTCATTCCCCTGGAATTAGAGAAAGGGAGAAAATGCAAGATTGGTGAGTGGGAGTCT 41663620 41663790 41663636 41663637 41663637 downstr_intron 22 1.594595 AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTTTGTGCTGGGGAGAGGC AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC mutant NA NA NA NA NA 15 52 1 1 1 0.9985406 0.9855258 1 0.941109 NA NA 0 0.05889104 0.9920332 0.9705545 NA 0.02944552 NA FALSE NA 0 -0.115 . downstream_gene_variant MODIFIER ANK1 HGNC 492 ENST00000518061 1 NA AGA G,A 1.647e-05 8:41663637 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00003603014 intron_variant 0.044566 0.23653 0.13085 0 0.4705794 0.0974983 1 TRUE 4.06293e-06 ENSE00001252325_004 ENSE00001252325 004 8 41521139 41521308 - 38 84 48 A T 41521190 907 119 GCCTCTCCCCAGCACAGAGGGGAACACTCTGCACCCACCTTCTTGGTGACATTGTTGCCCTGCTCATCCGTGAATTGCTCCTCTGTCACCTGCTCCCCTGGAATATTCTGAAACTCATTCCCCTGGAATTAGAGAAAGGGAGAAAATGCAAGATTGGTGAGTGGGAGTCT 41663620 41663790 41663671 41663672 41663672 exon -14 0.8452381 AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGCAACAATGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC mutant NA NA NA NA NA 18 43 1 1 1 0.9985406 0.9855258 1 0.941109 NA NA 0 0.05889104 0.9920332 0.9705545 NA 0.02944552 NA FALSE NA 1 8.543 . downstream_gene_variant MODIFIER ANK1 HGNC 492 ENST00000518061 1 NA AAT A,T 8.236e-06 8:41663672 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00003603014 missense_variant 6.975712 0.96489 0.9688 0.626454 0.9918307 0 1 TRUE 4.06075e-06 ENSE00001252325_006 ENSE00001252325 006 8 41521139 41521308 - 38 84 48 C T 41521197 909 112 GCCTCTCCCCAGCACAGAGGGGAACACTCTGCACCCACCTTCTTGGTGACAATGTTGCTCTGCTCATCCGTGAATTGCTCCTCTGTCACCTGCTCCCCTGGAATATTCTGAAACTCATTCCCCTGGAATTAGAGAAAGGGAGAAAATGCAAGATTGGTGAGTGGGAGTCT 41663620 41663790 41663678 41663679 41663679 exon -21 0.7619048 AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGAGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC mutant NA NA NA NA NA 15 333 1 0.9343755 0.9671878 0.9985406 0.9855258 1 0.941109 NA NA 0 -0.006733446 0.9920332 0.9705545 NA -0.003366723 NA FALSE NA 1 7.142 . downstream_gene_variant MODIFIER ANK1 HGNC 492 ENST00000518061 rs528332130 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCC C,T 7.413e-05 8:41663679 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00003603014 missense_variant 7.596533 0.97069 0.95678 0.626454 0.9987957 0 1 TRUE 5.27897e-05 ENSE00001252325_009 ENSE00001252325 009 8 41521139 41521308 - 38 84 48 C T 41521227 912 82 GCCTCTCCCCAGCACAGAGGGGAACACTCTGCACCCACCTTCTTGGTGACAATGTTGCCCTGCTCATCCGTGAATTGCTCCTCTGTCATCTGCTCCCCTGGAATATTCTGAAACTCATTCCCCTGGAATTAGAGAAAGGGAGAAAATGCAAGATTGGTGAGTGGGAGTCT 41663620 41663790 41663708 41663709 41663709 exon 34 0.4047619 AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGATGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC AGACTCCCACTCACCAATCTTGCATTTTCTCCCTTTCTCTAATTCCAGGGGAATGAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGCAACATTGTCACCAAGAAGGTGGGTGCAGAGTGTTCCCCTCTGTGCTGGGGAGAGGC mutant NA NA NA NA NA 34 304 1 0.9476058 0.9738029 0.9985406 0.9855258 1 0.941109 NA NA 0 0.006496793 0.9920332 0.9705545 NA 0.003248397 NA FALSE NA 1 5.369 . downstream_gene_variant MODIFIER ANK1 HGNC 492 ENST00000518061 COSM2153033&COSM2153032&COSM2153034 1 NA ACC C,T 8.236e-06 8:41663709 ANK1 HGNC Symbol protein_coding 243542 ENSG00000029534 ENSE00003603014 missense_variant 7.084346 0.96916 0.94217 0.718356 0.9984283 0 1 TRUE 4.06062e-06 ENSE00001260272_007 ENSE00001260272 007 16 84495279 84495448 + 41 99 30 C T 84495298 3026 20 CTCTTCCCGCCTAACCTCTTACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461691 84461692 84461692 upstr_intron -22 -0.5121951 CTCTTCCCGCCTAACCTCTTACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 11 115 0.95 0.9886563 0.9693282 0.9638315 0.9984085 0.9980944 0.8245277 NA NA -0.04809439 0.1641287 0.98112 0.911311 NA 0.05801713 NA FALSE NA 0 -0.63 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 4/6 rs370822143 1 NA T:0.0002 T:0 TCA C,T 1.65e-05 16:84461692 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 splice_region_variant 0.162021 0.16584 0.06002 0.062308 0.5179747 0.0787599 NA NA 1.22052e-05 ENSE00001260272_011 ENSE00001260272 011 16 84495279 84495448 + 41 99 30 G A 84495307 3030 29 CTCTTCCCGCCTAACCTCTCACCTTTGTACTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461700 84461701 84461701 upstr_intron -13 -0.2926829 CTCTTCCCGCCTAACCTCTCACCTTTGTACTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 269 1343 0.9957947 0.9989159 0.9973553 0.9638315 0.9984085 0.9980944 0.8245277 NA NA -0.002299693 0.1743882 0.98112 0.911311 NA 0.08604424 NA FALSE NA 0 -1.329 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 4/6 1 NA TGC G,A 5.775e-05 16:84461701 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 non_coding_transcript_exon_variant -0.639142 0.12748 0.0424 0.062308 0.7562333 0.0903746 NA NA 3.65848e-05 ENSE00001260272_017 ENSE00001260272 017 16 84495279 84495448 + 41 99 30 C T 84495317 3036 39 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCTAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461710 84461711 84461711 upstr_intron -3 -0.04878049 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCTAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 13 915 1 0.9997918 0.9998959 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1752641 0.98112 0.911311 NA 0.08858485 NA FALSE NA 1 5.032 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW ATP2C2 HGNC 29103 ENST00000567892 4/6 1 NA CCA C,T 8.249e-06 16:84461711 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 splice_region_variant 2.111582 0.97083 0.74952 0.062308 0.9578604 0.979999 NA NA 4.06332e-06 ENSE00001260272_025 ENSE00001260272 025 16 84495279 84495448 + 41 99 30 G A 84495348 3044 70 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCACACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461741 84461742 84461742 exon 29 0.2929293 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCACACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 103 62 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 1 9.37 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 5/7 1 NA CGC G,A 2.475e-05 16:84461742 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 missense_variant 5.935335 0.97349 0.96612 0.615465 0.999352 0 NA NA 2.43651e-05 ENSE00001260272_034 ENSE00001260272 034 16 84495279 84495448 + 41 99 30 G A 84495364 3053 86 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACATTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461757 84461758 84461758 exon 45 0.4545455 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACATTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant 48 100 0.85 0.921779 0.8858895 NA NA NA NA NA 0.9638315 0.9984085 0.9980944 0.8245277 -0.1138315 -0.07662951 NA NA 0.98112 0.911311 -0.09523051 NA NA NA FALSE 0.791 -0.152 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 5/7 rs374219008 1 NA A:0.0002 A:0 CGT G,A 8.251e-05 16:84461758 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 synonymous_variant 0.532292 0.72564 0.40919 0.615465 0.7145158 0 NA NA 6.90344e-05 ENSE00001260272_040 ENSE00001260272 040 16 84495279 84495448 + 41 99 30 T C 84495381 3059 103 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTCTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461774 84461775 84461775 exon -38 0.6262626 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTCTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 18 32 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 1 7.64 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 5/7 1 NA TTT T,C 8.254e-06 16:84461775 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 missense_variant 5.346364 0.96717 0.94657 0.615465 0.9981067 0 NA NA 4.06081e-06 ENSE00001260272_044 ENSE00001260272 044 16 84495279 84495448 + 41 99 30 A C 84495387 3063 109 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGCTCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461780 84461781 84461781 exon -32 0.6868687 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGCTCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 190 355 0.968241 0.9998927 0.9840668 0.9638315 0.9984085 0.9980944 0.8245277 NA NA -0.02985343 0.175365 0.98112 0.911311 NA 0.0727558 NA FALSE NA 1 8.87 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 5/7 1 NA GAT A,C 8.255e-06 16:84461781 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 missense_variant 5.676351 0.96818 0.96552 0.615465 0.9952921 0 NA NA NA ENSE00001260272_050 ENSE00001260272 050 16 84495279 84495448 + 41 99 30 T G 84495402 3069 124 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTGGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461795 84461796 84461796 exon -17 0.8383838 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTGGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 843 115 0.9956188 1 0.9978094 0.9638315 0.9984085 0.9980944 0.8245277 NA NA -0.002475624 0.1754723 0.98112 0.911311 NA 0.08649834 NA FALSE NA 1 7.64 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 5/7 1 NA TTG T,G 1.653e-05 16:84461796 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 missense_variant 6.502722 0.96788 0.95334 0.615465 0.9587709 0 NA NA 4.06653e-06 ENSE00001260272_057 ENSE00001260272 057 16 84495279 84495448 + 41 99 30 T A 84495413 3076 135 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCACTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461806 84461807 84461807 exon -6 0.9494949 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCACTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 57 211 1 0.9998194 0.9999097 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1752917 0.98112 0.911311 NA 0.08859868 NA FALSE NA 1 5.839 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 5/7 rs368682123 1 NA A:0 A:0.0002 CTC T,A 3.302e-05 16:84461807 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 missense_variant 6.368066 0.96807 0.9351 0.615465 0.9961683 0 NA NA 4.87318e-05 ENSE00001260272_059 ENSE00001260272 059 16 84495279 84495448 + 41 99 30 T A 84495415 3078 137 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCACAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461808 84461809 84461809 exon -4 0.969697 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCACAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 51 90 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 0.017 -1.124 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 5/7 rs577058071 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CTC T,A 8.256e-06 16:84461809 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 synonymous_variant 1.914199 0.38035 0.13279 0.615465 0.7789392 0 NA NA 8.12222e-06 ENSE00001260272_068 ENSE00001260272 068 16 84495279 84495448 + 41 99 30 G C 84495433 3087 155 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTCACCCTCCTCGCTGCA 84461672 84461842 84461826 84461827 84461827 downstr_intron 15 1.517241 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTCACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 22 118 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 0 -0.001 . intron_variant&non_coding_transcript_variant MODIFIER ATP2C2 HGNC 29103 ENST00000567892 5/6 rs559396722 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 TGA G,C 8.258e-06 16:84461827 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 non_coding_transcript_exon_variant -0.280525 0.1916 0.05045 0.062308 0.3964644 0.0682865 NA NA 4.0619e-06 ENSE00001268021_001 ENSE00001268021 001 15 89020163 89020332 + 57 66 47 C G 89020185 2385 23 GAGATTTGGATGCAGTAGTTCTGTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88476953 88476954 88476954 upstr_intron -35 -0.5964912 GAGATTTGGATGCAGTAGTTCTGTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 61 73 0.85 0.8348419 0.842421 63 2965 0.771161 0.8010231 0.786092 0.8477549 0.8444036 0.7871505 0.7544259 0.002245082 -0.009561733 -0.01598955 0.04659721 0.8460793 0.7707882 -0.003658325 0.01530383 0.01896216 FALSE FALSE 0 -0.025 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA TCT C,G 8.239e-06 15:88476954 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 non_coding_transcript_exon_variant 0.243407 0.18391 0.08079 0 0.6739415 0.134633 0.0004344816 FALSE 1.6922e-05 ENSE00001268021_002 ENSE00001268021 002 15 89020163 89020332 + 57 66 47 C T 89020190 2386 28 GAGATTTGGATGCAGTAGTTCTCTCTCTGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88476958 88476959 88476959 upstr_intron -30 -0.5087719 GAGATTTGGATGCAGTAGTTCTCTCTCTGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 10 14 0.1249324 0.1467185 0.1358254 106 486 0.1785448 0.03590597 0.1072254 0.8477549 0.8444036 0.7871505 0.7544259 -0.7228225 -0.6976852 -0.6086057 -0.7185199 0.8460793 0.7707882 -0.7102538 -0.6635628 0.046691 TRUE TRUE 0 -5.723 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA CCG C,T 5.768e-05 15:88476959 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 non_coding_transcript_exon_variant 0.065943 0.07146 0.03283 0 0.7783236 0.133592 0.0004344816 FALSE 3.76799e-05 ENSE00001268021_003 ENSE00001268021 003 15 89020163 89020332 + 57 66 47 G A 89020191 2387 29 GAGATTTGGATGCAGTAGTTCTCTCTCCAGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88476959 88476960 88476960 upstr_intron -29 -0.4912281 GAGATTTGGATGCAGTAGTTCTCTCTCCAGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 86 202 0.3072655 0.303631 0.3054483 1800 155 0.9196471 0.9369722 0.9283096 0.8477549 0.8444036 0.7871505 0.7544259 -0.5404894 -0.5407726 0.1324965 0.1825463 0.8460793 0.7707882 -0.540631 0.1575214 0.6981524 FALSE TRUE 0 -0.314 rs138199781 intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 rs138199781 1 A:0.0012 A:0.0045 A:0 NA A:0 A:0 A:0 A:0.005 A:0.0001 CGG G,A 0.0004615 15:88476960 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 non_coding_transcript_exon_variant 1.005384 0.1528 0.10146 0 0.798904 0.133592 0.0004344816 FALSE 0.000367343 ENSE00001268021_004 ENSE00001268021 004 15 89020163 89020332 + 57 66 47 C T 89020197 2388 35 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCATTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88476965 88476966 88476966 upstr_intron -23 -0.3859649 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCATTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 172 167 0 0 0 NA NA NA NA NA 0.8477549 0.8444036 0.7871505 0.7544259 -0.8477549 -0.8444036 NA NA 0.8460793 0.7707882 -0.8460793 NA NA NA TRUE 0.721 1.347 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA ACT C,T 8.281e-06 15:88476966 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 non_coding_transcript_exon_variant 1.037086 0.16882 0.68006 0 0.8034725 0.130734 0.0004344816 FALSE 4.15296e-06 ENSE00001268021_005 ENSE00001268021 005 15 89020163 89020332 + 57 66 47 C T 89020204 2389 42 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCATTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88476972 88476973 88476973 upstr_intron -16 -0.2631579 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCATTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 23 60 0.85 0.85 0.85 163 735 0.8 0.8071017 0.8035509 0.8477549 0.8444036 0.7871505 0.7544259 0.002245082 0.005596365 0.01284948 0.05267584 0.8460793 0.7707882 0.003920724 0.03276266 0.02884193 FALSE FALSE 0 0.078 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA ACT C,T 4.136e-05 15:88476973 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 non_coding_transcript_exon_variant 1.023567 0.17999 0.10288 0.295142 0.7801843 0.119552 0.0004344816 FALSE 3.71726e-05 ENSE00001268021_006 ENSE00001268021 006 15 89020163 89020332 + 57 66 47 C T 89020217 2390 55 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCTAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88476985 88476986 88476986 upstr_intron -3 -0.03508772 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCTAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 22 38 0.85 0.9167547 0.8833774 1179 340 0.7713213 0.919303 0.8453122 0.8477549 0.8444036 0.7871505 0.7544259 0.002245082 0.0723511 -0.0158292 0.1648771 0.8460793 0.7707882 0.03729809 0.07452395 0.03722585 FALSE FALSE 0.998 3.33 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA CCA C,T 8.236e-06 15:88476986 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 splice_region_variant 2.077569 0.92883 0.88248 0.295142 0.9411815 0.849616 0.0004344816 FALSE 4.07774e-06 ENSE00001268021_007 ENSE00001268021 007 15 89020163 89020332 + 57 66 47 G A 89020223 2391 61 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAACTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88476991 88476992 88476992 exon 4 0.06060606 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAACTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 231 283 0.7648738 0.7396077 0.7522408 NA NA NA NA NA 0.8477549 0.8444036 0.7871505 0.7544259 -0.08288113 -0.1047959 NA NA 0.8460793 0.7707882 -0.09383852 NA NA NA FALSE 1 7.701 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA AGC G,A 1.647e-05 15:88476992 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 missense_variant 6.532203 0.96244 0.96866 0.712529 0.9302806 0 0.0004344816 FALSE 8.14545e-06 ENSE00001268021_009 ENSE00001268021 009 15 89020163 89020332 + 57 66 47 G A 89020235 2393 73 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGAGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477003 88477004 88477004 exon 16 0.2424242 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGAGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant NA NA NA NA NA 1657 881 0.9070138 0.9632939 0.9351539 0.8477549 0.8444036 0.7871505 0.7544259 NA NA 0.1198633 0.208868 0.8460793 0.7707882 NA 0.1643657 NA FALSE NA 1 7.701 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA GGG G,A 8.236e-06 15:88477004 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 missense_variant 5.970657 0.95835 0.96879 0.712529 0.9981683 0 0.0004344816 FALSE 1.22037e-05 ENSE00001268021_012 ENSE00001268021 012 15 89020163 89020332 + 57 66 47 G A 89020238 2396 76 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCATGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477006 88477007 88477007 exon 19 0.2878788 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCATGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 1020 560 0 0 0 277 24 0.005056111 0.04320471 0.02413041 0.8477549 0.8444036 0.7871505 0.7544259 -0.8477549 -0.8444036 -0.7820944 -0.7112212 0.8460793 0.7707882 -0.8460793 -0.7466578 0.09942148 TRUE TRUE 1 3.887 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA CGT G,A 3.295e-05 15:88477007 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 missense_variant 4.528252 0.9624 0.94218 0.712529 0.995248 0 0.0004344816 FALSE 3.25418e-05 ENSE00001268021_015 ENSE00001268021 015 15 89020163 89020332 + 57 66 47 G C 89020253 2399 91 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGACTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477021 88477022 88477022 exon -33 0.5151515 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGACTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 116 203 0.85 0.9212048 0.8856024 206 121 0.8105922 0.8 0.8052961 0.8477549 0.8444036 0.7871505 0.7544259 0.002245082 0.07680115 0.02344164 0.04557411 0.8460793 0.7707882 0.03952312 0.03450788 0.005015239 FALSE FALSE 1 7.701 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA AGT G,C 8.236e-06 15:88477022 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 missense_variant 5.393794 0.96304 0.97698 0.712529 0.9983497 0 0.0004344816 FALSE 4.06537e-06 ENSE00001268021_016 ENSE00001268021 016 15 89020163 89020332 + 57 66 47 G A 89020259 2400 97 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGATGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477027 88477028 88477028 exon -27 0.6060606 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGATGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant NA NA NA NA NA 42 165 1 0.9580396 0.9790198 0.8477549 0.8444036 0.7871505 0.7544259 NA NA 0.2128495 0.2036137 0.8460793 0.7707882 NA 0.2082316 NA FALSE NA 1 5.81 rs138464643 intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 rs138464643 1 NA A:0 A:0.0001 GGT G,A 1.647e-05 15:88477028 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 missense_variant 6.84296 0.96188 0.96181 0.712529 0.9990639 0 0.0004344816 FALSE 8.13306e-06 ENSE00001268021_017 ENSE00001268021 017 15 89020163 89020332 + 57 66 47 C T 89020280 2401 118 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGATGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477048 88477049 88477049 exon -6 0.9242424 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGATGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 22 52 0.85 0.85 0.85 557 977 0.8 0.7979541 0.7989771 0.8477549 0.8444036 0.7871505 0.7544259 0.002245082 0.005596365 0.01284948 0.04352824 0.8460793 0.7707882 0.003920724 0.02818886 0.02426814 FALSE FALSE 1 4.357 rs142017223 intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 rs142017223 1 NA T:0.0002 T:0 ACG C,T 8.236e-06 15:88477049 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 missense_variant 8.316634 0.95784 0.92812 0.712529 0.9992057 0 0.0004344816 FALSE 4.07189e-06 ENSE00001268021_018 ENSE00001268021 018 15 89020163 89020332 + 57 66 47 G A 89020281 2402 119 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACACTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477049 88477050 88477050 exon -5 0.9393939 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACACTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant NA NA NA NA NA 80 121 0.8040209 0.8 0.8020105 0.8477549 0.8444036 0.7871505 0.7544259 NA NA 0.01687039 0.04557411 0.8460793 0.7707882 NA 0.03122225 NA FALSE NA 1 7.701 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA CGC G,A 8.236e-06 15:88477050 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 missense_variant 7.765467 0.9715 0.96702 0.712529 0.9992814 0 0.0004344816 FALSE 8.14624e-06 ENSE00001268021_019 ENSE00001268021 019 15 89020163 89020332 + 57 66 47 A C 89020288 2403 126 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTCAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477056 88477057 88477057 downstr_intron 3 1.065217 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTCAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 609 416 0 0.001563861 0.0007819304 259 458 0 0.02255564 0.01127782 0.8477549 0.8444036 0.7871505 0.7544259 -0.8477549 -0.8428398 -0.7871505 -0.7318703 0.8460793 0.7707882 -0.8452973 -0.7595104 0.08578696 TRUE TRUE 1 1.424 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA TAA A,C 8.236e-06 15:88477057 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 splice_region_variant 1.55125 0.91743 0.82964 0.255825 0.8695245 0.680655 0.0004344816 FALSE 4.07647e-06 ENSE00001268021_022 ENSE00001268021 022 15 89020163 89020332 + 57 66 47 T C 89020300 2406 138 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGACTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477068 88477069 88477069 downstr_intron 15 1.326087 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGACTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 52 14 0.09727361 0.04723584 0.07225473 561 1410 0.03191795 0.05369226 0.04280511 0.8477549 0.8444036 0.7871505 0.7544259 -0.7504813 -0.7971678 -0.7552326 -0.7007336 0.8460793 0.7707882 -0.7738245 -0.7279831 0.04584145 TRUE TRUE 0 -0.059 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 rs563011483 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATT T,C 1.647e-05 15:88477069 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 intron_variant 0.189659 0.2407 0.05306 0.255825 0.5528822 0.0793798 0.0004344816 FALSE 1.22639e-05 ENSE00001268021_023 ENSE00001268021 023 15 89020163 89020332 + 57 66 47 T A 89020302 2407 140 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTACCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477070 88477071 88477071 downstr_intron 17 1.369565 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTACCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 15 48 0 0.01361246 0.006806232 NA NA NA NA NA 0.8477549 0.8444036 0.7871505 0.7544259 -0.8477549 -0.8307912 NA NA 0.8460793 0.7707882 -0.839273 NA NA NA TRUE 0.002 0.874 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 rs199544350 1 A:0.0006 A:0 A:0 NA A:0 A:0.003 A:0 A:0 A:0.001 TTC T,A 0.0009142 15:88477071 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 intron_variant 0.322246 0.24332 0.2884 0.255825 0.7894881 0.0792781 0.0004344816 FALSE 0.00106796 ENSE00001268021_024 ENSE00001268021 024 15 89020163 89020332 + 57 66 47 A G 89020305 2408 143 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCGTAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477073 88477074 88477074 downstr_intron 20 1.434783 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCGTAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 61 65 0.7646572 0.85 0.8073286 1949 671 0.8023125 0.8 0.8011562 0.8477549 0.8444036 0.7871505 0.7544259 -0.0830977 0.005596365 0.01516193 0.04557411 0.8460793 0.7707882 -0.03875067 0.03036802 0.06911869 FALSE FALSE 0 -1.361 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA CAT A,G 8.236e-06 15:88477074 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 intron_variant -0.680163 0.06724 0.0482 0.255825 0.1528485 0.0792781 0.0004344816 FALSE NA ENSE00001268021_025 ENSE00001268021 025 15 89020163 89020332 + 57 66 47 C T 89020313 2409 151 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTATTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477081 88477082 88477082 downstr_intron 28 1.608696 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTATTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 90 139 0.85 0.85 0.85 57 309 0.8140432 0.8704166 0.8422299 0.8477549 0.8444036 0.7871505 0.7544259 0.002245082 0.005596365 0.02689269 0.1159907 0.8460793 0.7707882 0.003920724 0.07144171 0.06752099 FALSE FALSE 0 0.169 . intron_variant&non_coding_transcript_variant MODIFIER MRPS11 HGNC 14050 ENST00000558548 2/2 1 NA ACT C,T 8.237e-06 15:88477082 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 intron_variant 0.098283 0.09791 0.00123 0.156188 0.4472307 0.061176 0.0004344816 FALSE 8.24647e-06 ENSE00001300583_001 ENSE00001300583 001 22 31846231 31846400 - 44 72 54 G A 31846250 537 151 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGTCTTGGAGTCTTGAACAGTA 31450244 31450414 31450263 31450264 31450264 downstr_intron 25 1.581395 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGTCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 1028 268 0.9725777 0.9943946 0.9834861 0.8429102 0.7687644 0.8454921 0.8465531 NA NA 0.1270856 0.1478415 0.8058373 0.8460226 NA 0.1374635 NA FALSE NA 0.495 2.196 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 rs199968604 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 GGC G,A 8.236e-06 22:31450264 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 intron_variant 0.916922 0.69973 0.45605 0.088506 0.6087005 0.948407 0.9996891 TRUE NA ENSE00001300583_003 ENSE00001300583 003 22 31846231 31846400 - 44 72 54 A C 31846261 539 140 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCGTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450274 31450275 31450275 downstr_intron 14 1.325581 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCGTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 1023 121 0.7479501 0.8068567 0.7774034 0.8429102 0.7687644 0.8454921 0.8465531 NA NA -0.09754198 -0.03969643 0.8058373 0.8460226 NA -0.06861921 NA FALSE NA 0.309 1.828 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA AAG A,C 8.237e-06 22:31450275 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 intron_variant 2.143608 0.96509 0.67119 0.088506 0.8436981 0.456908 0.9996891 TRUE 4.06947e-06 ENSE00001300583_005 ENSE00001300583 005 22 31846231 31846400 - 44 72 54 T A 31846265 541 136 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACTATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450278 31450279 31450279 downstr_intron 10 1.232558 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACTATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 625 115 0.636189 0.8 0.7180945 0.8429102 0.7687644 0.8454921 0.8465531 NA NA -0.2093031 -0.0465531 0.8058373 0.8460226 NA -0.1279281 NA FALSE NA 0.03 0.52 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA TTG T,A 1.647e-05 22:31450279 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 intron_variant 2.543048 0.65292 0.14635 0.088506 0.8631927 0.456908 0.9996891 TRUE 1.6276e-05 ENSE00001300583_006 ENSE00001300583 006 22 31846231 31846400 - 44 72 54 G C 31846268 542 133 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTGACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450281 31450282 31450282 downstr_intron 7 1.162791 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTGACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 746 314 0.8209635 0.8951755 0.8580695 0.8429102 0.7687644 0.8454921 0.8465531 NA NA -0.02452861 0.04862239 0.8058373 0.8460226 NA 0.01204689 NA FALSE NA 0.048 0.142 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA TGA G,C 8.236e-06 22:31450282 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 splice_region_variant 1.198951 0.75807 0.08718 0.139865 0.7835324 0.524848 0.9996891 TRUE 4.06914e-06 ENSE00001300583_007 ENSE00001300583 007 22 31846231 31846400 - 44 72 54 G C 31846280 543 121 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCGTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450293 31450294 31450294 exon -6 0.9305556 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCGTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 471 469 0.9554393 0.9735011 0.9644702 0.8429102 0.7687644 0.8454921 0.8465531 NA NA 0.1099472 0.126948 0.8058373 0.8460226 NA 0.1184476 NA FALSE NA 1 0.793 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA AGG G,C 1.647e-05 22:31450294 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 missense_variant 3.587611 0.95815 0.8825 0.732398 0.990445 0 0.9996891 TRUE 1.62664e-05 ENSE00001300583_008 ENSE00001300583 008 22 31846231 31846400 - 44 72 54 A G 31846308 544 93 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATCCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450321 31450322 31450322 exon -34 0.5416667 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATCCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 267 988 0.8544563 0.9374425 0.8959494 0.8429102 0.7687644 0.8454921 0.8465531 NA NA 0.008964278 0.09088942 0.8058373 0.8460226 NA 0.04992685 NA FALSE NA 0.487 -0.385 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA GAA A,G 4.118e-05 22:31450322 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 synonymous_variant 1.312452 0.91256 0.26496 0.732398 0.7699069 0 0.9996891 TRUE 2.84574e-05 ENSE00001300583_009 ENSE00001300583 009 22 31846231 31846400 - 44 72 54 C G 31846313 545 88 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTCAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450326 31450327 31450327 exon 34 0.4722222 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTCAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 265 388 0.1089524 0.01525631 0.06210433 0.8429102 0.7687644 0.8454921 0.8465531 NA NA -0.7365397 -0.8312968 0.8058373 0.8460226 NA -0.7839182 NA TRUE NA 1 3.591 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA TCA C,G 8.236e-06 22:31450327 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 missense_variant 4.175404 0.98158 0.94074 0.732398 0.9974208 0 0.9996891 TRUE 4.0655e-06 ENSE00001300583_011 ENSE00001300583 011 22 31846231 31846400 - 44 72 54 G T 31846321 547 80 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTACCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450334 31450335 31450335 exon 26 0.3611111 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTACCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 1051 228 0.7569723 0.8 0.7784862 0.8429102 0.7687644 0.8454921 0.8465531 NA NA -0.08851972 -0.0465531 0.8058373 0.8460226 NA -0.06753641 NA FALSE NA 1 6.506 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA GGA G,T 8.236e-06 22:31450335 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 missense_variant 5.91689 0.98837 0.97807 0.732398 0.9950216 0 0.9996891 TRUE 4.06564e-06 ENSE00001300583_013 ENSE00001300583 013 22 31846231 31846400 - 44 72 54 C T 31846333 549 68 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAACCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450346 31450347 31450347 exon 14 0.1944444 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAACCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 968 2707 0.9767077 0.9024733 0.9395905 0.8429102 0.7687644 0.8454921 0.8465531 NA NA 0.1312156 0.05592016 0.8058373 0.8460226 NA 0.09356788 NA FALSE NA 1 2.571 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA GCT C,T 8.236e-06 22:31450347 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 missense_variant 3.28129 0.9877 0.91519 0.732398 0.9826307 0 0.9996891 TRUE 4.06537e-06 ENSE00001300583_017 ENSE00001300583 017 22 31846231 31846400 - 44 72 54 C T 31846345 553 56 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCAAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450358 31450359 31450359 exon 2 0.02777778 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCAAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 1062 63 0.8062031 0.8039978 0.8051005 0.8429102 0.7687644 0.8454921 0.8465531 NA NA -0.03928899 -0.04255526 0.8058373 0.8460226 NA -0.04092212 NA FALSE NA 1 2.516 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 rs549193244 1 T:0.0022 T:0 T:0 NA T:0 T:0 T:0.0112 TCG C,T 0.001252 22:31450359 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 missense_variant 3.45983 0.97897 0.81383 0.732398 0.9981339 0 0.9996891 TRUE 0.00102883 ENSE00001300583_018 ENSE00001300583 018 22 31846231 31846400 - 44 72 54 A G 31846350 554 51 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTCTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450363 31450364 31450364 upstr_intron -4 -0.05555556 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTCTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 906 743 0.7550657 0.9538687 0.8544672 0.8429102 0.7687644 0.8454921 0.8465531 NA NA -0.09042636 0.1073156 0.8058373 0.8460226 NA 0.008444626 NA FALSE NA 1 1.196 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 1 NA AAA A,G 8.236e-06 22:31450364 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 splice_region_variant 1.450981 0.95789 0.74518 0.106106 0.8461204 0.53178 0.9996891 TRUE 4.06798e-06 ENSE00001300583_021 ENSE00001300583 021 22 31846231 31846400 - 44 72 54 G C 31846362 557 39 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTGTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450375 31450376 31450376 upstr_intron -16 -0.2777778 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTGTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 226 244 0.8727097 0.8 0.8363548 0.8429102 0.7687644 0.8454921 0.8465531 NA NA 0.0272176 -0.0465531 0.8058373 0.8460226 NA -0.009667746 NA FALSE NA 1 1.352 . intron_variant MODIFIER EIF4ENIF1 HGNC 16687 ENST00000382180 3/10 rs368246559 1 NA C:0 C:0.0001 AGA G,C 8.236e-06 22:31450376 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 non_coding_transcript_exon_variant 0.754494 0.95049 0.8966 0.099367 0.5631017 0.357301 0.9996891 TRUE 4.06984e-06 ENSE00001301553_002 ENSE00001301553 002 18 47016794 47016963 - 30 99 41 T C 47016809 584 155 AGTTGCACAGGATGTCAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490438 49490439 49490439 downstr_intron 15 1.517241 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTGACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 564 60 0.8634469 0.9973549 0.9304009 0.9893338 0.9499531 0.9748903 0.9887698 NA NA -0.1114434 0.008585153 0.9696435 0.98183 NA -0.05142911 NA FALSE NA 0 -0.513 rs149217820 intron_variant MODIFIER RPL17 HGNC 10307 ENST00000583036 6/6 rs149217820 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTA T,C 8.276e-06 18:49490439 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 non_coding_transcript_exon_variant -0.213002 0.20193 0.05228 0.119682 0.3670232 0.0782331 0.4940594 FALSE 4.06848e-06 ENSE00001301553_004 ENSE00001301553 004 18 47016794 47016963 - 30 99 41 C T 47016842 586 122 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTTTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490471 49490472 49490472 exon -19 0.8181818 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAAAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 153 1775 1 0.998899 0.9994495 0.9893338 0.9499531 0.9748903 0.9887698 NA NA 0.02510968 0.01012922 0.9696435 0.98183 NA 0.01761945 NA FALSE NA 1 2.56 . synonymous_variant LOW RPL17 HGNC 10307 ENST00000583036 6/7 rs375547593 1 NA T:0 T:0.0001 TCT C,T 5.793e-05 18:49490472 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 synonymous_variant 1.629819 0.93962 0.85755 0.627647 0.8845059 0 0.4940594 FALSE 6.91214e-05 ENSE00001301553_005 ENSE00001301553 005 18 47016794 47016963 - 30 99 41 C T 47016847 587 117 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGTGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490476 49490477 49490477 exon -24 0.7676768 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACACAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 200 1045 0.9599106 0.9326964 0.9463035 0.9893338 0.9499531 0.9748903 0.9887698 NA NA -0.01497974 -0.05607336 0.9696435 0.98183 NA -0.03552655 NA FALSE NA 1 7.575 . missense_variant MODERATE RPL17 HGNC 10307 ENST00000583036 6/7 1 deleterious(0.03) benign(0.056) NA GCG C,T 8.277e-06 18:49490477 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 missense_variant 7.15735 0.97973 0.96498 0.627647 0.9986805 0 0.4940594 FALSE 8.13206e-06 ENSE00001301553_009 ENSE00001301553 009 18 47016794 47016963 - 30 99 41 C T 47016863 591 101 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGTAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490492 49490493 49490493 exon -40 0.6060606 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTACACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 76 39 0.9915837 0.9826908 0.9871373 0.9893338 0.9499531 0.9748903 0.9887698 NA NA 0.01669342 -0.006078996 0.9696435 0.98183 NA 0.00530721 NA FALSE NA 1 1.337 . synonymous_variant LOW RPL17 HGNC 10307 ENST00000583036 6/7 1 NA GCA C,T 2.483e-05 18:49490493 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 synonymous_variant 1.731842 0.94006 0.83358 0.627647 0.9067133 0 0.4940594 FALSE 2.84597e-05 ENSE00001301553_010 ENSE00001301553 010 18 47016794 47016963 - 30 99 41 C T 47016881 592 83 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTTTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490510 49490511 49490511 exon 42 0.4242424 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAAAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 72 153 0.95 0.8732061 0.911603 0.9893338 0.9499531 0.9748903 0.9887698 NA NA -0.02489032 -0.1155637 0.9696435 0.98183 NA -0.07022699 NA FALSE NA 1 0.739 . synonymous_variant LOW RPL17 HGNC 10307 ENST00000583036 6/7 1 NA TCT C,T 8.277e-06 18:49490511 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 synonymous_variant 2.02057 0.97071 0.85152 0.627647 0.9112846 0 0.4940594 FALSE 4.06573e-06 ENSE00001301553_011 ENSE00001301553 011 18 47016794 47016963 - 30 99 41 C T 47016894 593 70 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACTGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490523 49490524 49490524 exon 29 0.2929293 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCAGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 630 388 0.9064389 0.8717486 0.8890937 0.9893338 0.9499531 0.9748903 0.9887698 NA NA -0.06845146 -0.1170212 0.9696435 0.98183 NA -0.09273632 NA FALSE NA 1 7.496 . missense_variant MODERATE RPL17 HGNC 10307 ENST00000583036 6/7 1 tolerated(0.12) benign(0.003) NA CCG C,T 8.277e-06 18:49490524 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 missense_variant 5.96412 0.97972 0.98463 0.627647 0.9991501 0 0.4940594 FALSE 4.06547e-06 ENSE00001301553_013 ENSE00001301553 013 18 47016794 47016963 - 30 99 41 T C 47016900 595 64 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTCGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490529 49490530 49490530 exon 23 0.2323232 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACGAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 78 476 1 0.9998399 0.99992 0.9893338 0.9499531 0.9748903 0.9887698 NA NA 0.02510968 0.01107017 0.9696435 0.98183 NA 0.01808993 NA FALSE NA 1 7.708 . missense_variant MODERATE RPL17 HGNC 10307 ENST00000583036 6/7 rs375831135 1 tolerated(0.07) benign(0.01) NA C:0 C:0.0002 TTG T,C 0.0001242 18:49490530 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 missense_variant 2.615727 0.97506 0.98452 0.627647 0.9921599 0 0.4940594 FALSE 0.000146332 ENSE00001301553_020 ENSE00001301553 020 18 47016794 47016963 - 30 99 41 T C 47016940 602 24 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGACGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490569 49490570 49490570 upstr_intron -18 -0.4146341 TAAATCAAGGAAAATGACTCATCGTCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 1175 171 0.9857566 0.9925428 0.9891497 0.9893338 0.9499531 0.9748903 0.9887698 NA NA 0.01086623 0.003773081 0.9696435 0.98183 NA 0.007319654 NA FALSE NA 0 -3.101 . intron_variant MODIFIER RPL17 HGNC 10307 ENST00000583036 5/6 rs374845113 1 NA C:0 C:0.0001 ATG T,C 3.311e-05 18:49490570 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 non_coding_transcript_exon_variant 0.255751 0.24304 0.04893 0.12324 0.63893 0.0759007 0.4940594 FALSE 2.44318e-05 ENSE00001301553_021 ENSE00001301553 021 18 47016794 47016963 - 30 99 41 G A 47016941 603 23 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATAATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490570 49490571 49490571 upstr_intron -19 -0.4390244 TAAATCAAGGAAAATGACTCATTATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant 15 30 0.9987633 0.9519126 0.9753379 NA NA NA NA NA 0.9893338 0.9499531 0.9748903 0.9887698 0.009429454 0.001959502 NA NA 0.9696435 0.98183 0.005694478 NA NA NA FALSE 0 -3.853 . intron_variant MODIFIER RPL17 HGNC 10307 ENST00000583036 5/6 1 NA TGA G,A 3.31e-05 18:49490571 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 non_coding_transcript_exon_variant 0.309071 0.20635 0.06196 0.12324 0.696142 0.0759007 0.4940594 FALSE 4.47905e-05 ENSE00001301553_022 ENSE00001301553 022 18 47016794 47016963 - 30 99 41 A T 47016942 604 22 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGTTGAGTCATTTTCCTTGATTTA 49490423 49490593 49490571 49490572 49490572 upstr_intron -20 -0.4634146 TAAATCAAGGAAAATGACTCAACATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant NA NA NA NA NA 138 53 0.9642142 1 0.9821071 0.9893338 0.9499531 0.9748903 0.9887698 NA NA -0.01067613 0.01123024 0.9696435 0.98183 NA 0.0002770534 NA FALSE NA 0.003 1.148 . intron_variant MODIFIER RPL17 HGNC 10307 ENST00000583036 5/6 1 NA GAT A,T 1.655e-05 18:49490572 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 non_coding_transcript_exon_variant 0.003778 0.36012 0.30168 0.12324 0.8075775 0.0759007 0.4940594 FALSE 1.22145e-05 ENSE00001301553_023 ENSE00001301553 023 18 47016794 47016963 - 30 99 41 T G 47016943 605 21 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGAGGAGTCATTTTCCTTGATTTA 49490423 49490593 49490572 49490573 49490573 upstr_intron -21 -0.4878049 TAAATCAAGGAAAATGACTCCTCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant 120 266 0.8454187 0.85 0.8477094 477 990 0.8806635 0.8234764 0.8520699 0.9893338 0.9499531 0.9748903 0.9887698 -0.1439151 -0.09995308 -0.09422681 -0.1652934 0.9696435 0.98183 -0.1219341 -0.1297601 0.00782602 FALSE FALSE 0.001 0.09 . intron_variant MODIFIER RPL17 HGNC 10307 ENST00000583036 5/6 rs567957956 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 ATG T,G 1.655e-05 18:49490573 RPL17 HGNC Symbol protein_coding 4070 ENSG00000265681 ENSE00003697406 non_coding_transcript_exon_variant 0.651829 0.35535 0.37124 0.12324 0.7247973 0.0759007 0.4940594 FALSE 1.22159e-05 ENSE00001303224_003 ENSE00001303224 003 12 64668639 64668808 - 42 75 53 A T 64668665 2372 144 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGACAAAACGAAATCACCCCCAAGCCTAA 64274858 64275028 64274884 64274885 64274885 downstr_intron 16 1.390244 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGACAAAACGAAATCACCCCCAAGCCTAA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA mutant NA NA NA NA NA 121 287 1 0.9896939 0.994847 NA NA 0.9911227 0.8850942 NA NA 0.008877295 0.1045997 NA 0.9381085 NA 0.05673848 NA FALSE NA 0 -0.014 . intron_variant&non_coding_transcript_variant MODIFIER C12orf56 HGNC 26967 ENST00000541802 3/3 1 NA GAC A,T 8.278e-06 12:64274885 C12orf56 HGNC Symbol protein_coding 126430 ENSG00000185306 ENSE00003556518 intron_variant -0.161974 0.16122 0.01135 0.053691 0.5609488 0.0689414 2.909335e-11 FALSE 4.08167e-06 ENSE00001303224_009 ENSE00001303224 009 12 64668639 64668808 - 42 75 53 G A 64668688 2378 121 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCTTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA 64274858 64275028 64274907 64274908 64274908 exon -8 0.9066667 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCTTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA mutant NA NA NA NA NA 297 868 0.9545257 1 0.9772628 NA NA 0.9911227 0.8850942 NA NA -0.03659701 0.1149058 NA 0.9381085 NA 0.03915437 NA FALSE NA 1 4.02 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C12orf56 HGNC 26967 ENST00000541802 3/4 1 NA AGG G,A 8.278e-06 12:64274908 C12orf56 HGNC Symbol protein_coding 126430 ENSG00000185306 ENSE00003556518 missense_variant 4.511456 0.97949 0.846 0.615465 0.9959536 0 2.909335e-11 FALSE 8.13557e-06 ENSE00001303224_013 ENSE00001303224 013 12 64668639 64668808 - 42 75 53 C T 64668708 2382 101 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATATCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA 64274858 64275028 64274927 64274928 64274928 exon -28 0.64 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATATCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA mutant NA NA NA NA NA 20 124 1 0.9987224 0.9993612 NA NA 0.9911227 0.8850942 NA NA 0.008877295 0.1136282 NA 0.9381085 NA 0.06125274 NA FALSE NA 1 3.182 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C12orf56 HGNC 26967 ENST00000541802 3/4 1 NA ACA C,T 8.278e-06 12:64274928 C12orf56 HGNC Symbol protein_coding 126430 ENSG00000185306 ENSE00003556518 missense_variant 3.389927 0.98232 0.78763 0.615465 0.9938503 0 2.909335e-11 FALSE 4.0657e-06 ENSE00001303224_014 ENSE00001303224 014 12 64668639 64668808 - 42 75 53 A T 64668712 2383 97 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGAAAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA 64274858 64275028 64274931 64274932 64274932 exon -32 0.5866667 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGAAAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA mutant NA NA NA NA NA 13 242 0.8 1 0.9 NA NA 0.9911227 0.8850942 NA NA -0.1911227 0.1149058 NA 0.9381085 NA -0.03810848 NA FALSE NA 1 3.805 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C12orf56 HGNC 26967 ENST00000541802 3/4 1 NA TAT A,T 8.278e-06 12:64274932 C12orf56 HGNC Symbol protein_coding 126430 ENSG00000185306 ENSE00003556518 missense_variant 3.721563 0.98027 0.84206 0.615465 0.9450104 0 2.909335e-11 FALSE 4.06534e-06 ENSE00001303224_026 ENSE00001303224 026 12 64668639 64668808 - 42 75 53 A T 64668750 2395 59 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAAACTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA 64274858 64275028 64274969 64274970 64274970 exon 6 0.08 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAAACTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA mutant NA NA NA NA NA 334 33 1 1 1 NA NA 0.9911227 0.8850942 NA NA 0.008877295 0.1149058 NA 0.9381085 NA 0.06189152 NA FALSE NA 1 0.584 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER C12orf56 HGNC 26967 ENST00000541802 3/4 1 NA GAT A,T 8.279e-06 12:64274970 C12orf56 HGNC Symbol protein_coding 126430 ENSG00000185306 ENSE00003556518 missense_variant 4.041922 0.95719 0.57089 0.615465 0.993199 0 2.909335e-11 FALSE 1.62715e-05 ENSE00001315953_005 ENSE00001315953 005 8 74231290 74231459 + 41 99 30 T C 74231400 1482 111 CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCCTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT 73319054 73319224 73319164 73319165 73319165 exon -30 0.7070707 CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCCTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT mutant NA NA NA NA NA 209 65 0.956197 1 0.9780985 0.9685336 0.9883433 0.9893027 0.9938497 NA NA -0.03310578 0.006150261 0.9784385 0.9915762 NA -0.01347776 NA FALSE NA 0.985 0.284 . upstream_gene_variant MODIFIER RDH10 HGNC 19975 ENST00000521013 rs199693590 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTT T,C 9.884e-05 8:73319165 RDH10 HGNC Symbol protein_coding 30669 ENSG00000121039 ENSE00001315953 synonymous_variant 0.681358 0.96386 0.62708 0.706298 0.7850715 0 0.9343201 TRUE 9.75308e-05 ENSE00001316627_001 ENSE00001316627 001 15 89857801 89857970 + 42 96 32 T G 89857817 2410 17 CCATTGAACCTGAAATGTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314585 89314586 89314586 upstr_intron -26 -0.5952381 CCATTGAACCTGAAATGTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 172 77 1 1 1 0.9949507 0.9954627 0.9950377 0.929829 NA NA 0.004962309 0.07017102 0.9952067 0.9624333 NA 0.03756667 NA FALSE NA 0 -1.793 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA TTT T,G 8.236e-06 15:89314586 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 intron_variant 1.488817 0.25538 0.11923 0.256867 0.7664421 0.247876 4.124498e-05 FALSE 8.13048e-06 ENSE00001316627_003 ENSE00001316627 003 15 89857801 89857970 + 42 96 32 T C 89857827 2412 27 CCATTGAACCTGAAATTTAAGTCTTACGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314595 89314596 89314596 upstr_intron -16 -0.3571429 CCATTGAACCTGAAATTTAAGTCTTACGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 288 2691 0.9966563 0.9804553 0.9885558 0.9949507 0.9954627 0.9950377 0.929829 NA NA 0.001618571 0.05062633 0.9952067 0.9624333 NA 0.02612245 NA FALSE NA 0 -1.574 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA ATG T,C 2.471e-05 15:89314596 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 intron_variant 1.143151 0.25448 0.17519 0.256867 0.799311 0.247876 4.124498e-05 FALSE 2.43786e-05 ENSE00001316627_004 ENSE00001316627 004 15 89857801 89857970 + 42 96 32 G A 89857828 2413 28 CCATTGAACCTGAAATTTAAGTCTTATATTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314596 89314597 89314597 upstr_intron -15 -0.3333333 CCATTGAACCTGAAATTTAAGTCTTATATTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant 17 18 0.9994951 1 0.9997476 NA NA NA NA NA 0.9949507 0.9954627 0.9950377 0.929829 0.004544451 0.004537294 NA NA 0.9952067 0.9624333 0.004540873 NA NA NA FALSE 0 -0.923 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 rs552581027 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 TGT G,A 0.0001071 15:89314597 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 intron_variant 1.350885 0.24958 0.15145 0.256867 0.6914701 0.247876 4.124498e-05 FALSE 0.000121898 ENSE00001316627_009 ENSE00001316627 009 15 89857801 89857970 + 42 96 32 G C 89857857 2418 57 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGCGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314625 89314626 89314626 exon 15 0.15625 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGCGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 636 404 0.9777525 1 0.9888763 0.9949507 0.9954627 0.9950377 0.929829 NA NA -0.01728516 0.07017102 0.9952067 0.9624333 NA 0.02644293 NA FALSE NA 1 0.588 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA GGG G,C 8.236e-06 15:89314626 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 synonymous_variant 0.812285 0.92789 0.87102 0.67177 0.7533434 0 4.124498e-05 FALSE 8.12334e-06 ENSE00001316627_010 ENSE00001316627 010 15 89857801 89857970 + 42 96 32 C G 89857867 2419 67 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGGCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314635 89314636 89314636 exon 25 0.2604167 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGGCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 978 549 0.9995784 0.9991638 0.9993711 0.9949507 0.9954627 0.9950377 0.929829 NA NA 0.004540756 0.06933482 0.9952067 0.9624333 NA 0.03693779 NA FALSE NA 1 6.155 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 rs577553815 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 GCC C,G 8.236e-06 15:89314636 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 1.894399 0.96698 0.92199 0.67177 0.8890771 0 4.124498e-05 FALSE 4.06141e-06 ENSE00001316627_011 ENSE00001316627 011 15 89857801 89857970 + 42 96 32 C A 89857873 2420 73 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCACTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314641 89314642 89314642 exon 31 0.3229167 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCACTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 710 206 0.9847616 0.9904398 0.9876007 0.9949507 0.9954627 0.9950377 0.929829 NA NA -0.01027604 0.06061082 0.9952067 0.9624333 NA 0.02516739 NA FALSE NA 1 7.487 rs143590561 downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 rs143590561 1 NA T:0 T:0.0001 CCC C,A 8.236e-06 15:89314642 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 6.965376 0.98036 0.97846 0.67177 0.9978653 0 4.124498e-05 FALSE 4.06141e-06 ENSE00001316627_014 ENSE00001316627 014 15 89857801 89857970 + 42 96 32 A G 89857891 2423 91 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCGTAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314659 89314660 89314660 exon -48 0.5104167 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCGTAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 515 1624 0.985355 0.9998052 0.9925801 0.9949507 0.9954627 0.9950377 0.929829 NA NA -0.009682679 0.0699762 0.9952067 0.9624333 NA 0.03014676 NA FALSE NA 1 8.963 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA CAT A,G 8.236e-06 15:89314660 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 5.925054 0.97516 0.98129 0.67177 0.9992596 0 4.124498e-05 FALSE 4.06138e-06 ENSE00001316627_015 ENSE00001316627 015 15 89857801 89857970 + 42 96 32 T C 89857892 2424 92 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCACAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314660 89314661 89314661 exon -47 0.5208333 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCACAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant 38 29 1 1 1 870 1204 0.9868384 0.9956403 0.9912393 0.9949507 0.9954627 0.9950377 0.929829 0.005049334 0.004537294 -0.008199321 0.0658113 0.9952067 0.9624333 0.004793314 0.02880599 0.02401268 FALSE FALSE 1 7.697 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA ATA T,C 8.236e-06 15:89314661 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 6.337155 0.97462 0.97234 0.67177 0.9987569 0 4.124498e-05 FALSE NA ENSE00001316627_017 ENSE00001316627 017 15 89857801 89857970 + 42 96 32 T C 89857900 2426 100 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGCATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314668 89314669 89314669 exon -39 0.6041667 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGCATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant 22 43 0.999615 0.9991846 0.9993998 2532 790 0.8097335 0.7056025 0.757668 0.9949507 0.9954627 0.9950377 0.929829 0.004664353 0.003721934 -0.1853042 -0.2242265 0.9952067 0.9624333 0.004193143 -0.2047654 0.2089585 FALSE FALSE 1 7.697 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA GTA T,C 8.236e-06 15:89314669 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 4.973688 0.97462 0.97234 0.67177 0.9986518 0 4.124498e-05 FALSE 4.06131e-06 ENSE00001316627_018 ENSE00001316627 018 15 89857801 89857970 + 42 96 32 C G 89857912 2427 112 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTGTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314680 89314681 89314681 exon -27 0.7291667 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTGTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 277 187 0.9980524 1 0.9990262 0.9949507 0.9954627 0.9950377 0.929829 NA NA 0.003014757 0.07017102 0.9952067 0.9624333 NA 0.03659289 NA FALSE NA 1 5.732 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 COSM966303&COSM1588216 1 NA TCT C,G 8.236e-06 15:89314681 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 6.21888 0.97084 0.96247 0.67177 0.9984573 0 4.124498e-05 FALSE 4.06164e-06 ENSE00001316627_019 ENSE00001316627 019 15 89857801 89857970 + 42 96 32 T G 89857913 2428 113 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCGCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314681 89314682 89314682 exon -26 0.7395833 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCGCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 581 2499 0.9986464 0.9971517 0.9978991 0.9949507 0.9954627 0.9950377 0.929829 NA NA 0.003608673 0.06732277 0.9952067 0.9624333 NA 0.03546572 NA FALSE NA 1 7.697 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA CTC T,G 8.236e-06 15:89314682 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 6.683669 0.97518 0.97585 0.67177 0.9981335 0 4.124498e-05 FALSE 4.06147e-06 ENSE00001316627_020 ENSE00001316627 020 15 89857801 89857970 + 42 96 32 G T 89857929 2429 129 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAATAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314697 89314698 89314698 exon -10 0.90625 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAATAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant 15 61 0.85 0.85 0.85 NA NA NA NA NA 0.9949507 0.9954627 0.9950377 0.929829 -0.1449507 -0.1454627 NA NA 0.9952067 0.9624333 -0.1452067 NA NA NA FALSE 1 1.663 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 rs538399495 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 AGA G,T 8.236e-06 15:89314698 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 5.72932 0.93462 0.90886 0.67177 0.9976672 0 4.124498e-05 FALSE 4.0619e-06 ENSE00001316627_021 ENSE00001316627 021 15 89857801 89857970 + 42 96 32 A G 89857931 2430 131 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAGGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314699 89314700 89314700 exon -8 0.9270833 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAGGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 398 509 0.993554 0.9781494 0.9858517 0.9949507 0.9954627 0.9950377 0.929829 NA NA -0.001483644 0.04832045 0.9952067 0.9624333 NA 0.0234184 NA FALSE NA 0.997 1.371 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA AAG A,G 8.236e-06 15:89314700 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 0.727783 0.89837 0.80214 0.67177 0.9309009 0 4.124498e-05 FALSE 8.12361e-06 ENSE00001316627_024 ENSE00001316627 024 15 89857801 89857970 + 42 96 32 C T 89857935 2433 135 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCTAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314703 89314704 89314704 exon -4 0.96875 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCTAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant 32 43 0.991344 0.9866062 0.9889751 47 423 1 0.9979958 0.9989979 0.9949507 0.9954627 0.9950377 0.929829 -0.003606695 -0.008856494 0.004962309 0.06816682 0.9952067 0.9624333 -0.006231595 0.03656456 0.04279616 FALSE FALSE 0.965 0.162 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA CCA C,T 8.236e-06 15:89314704 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 synonymous_variant 1.614766 0.90707 0.84925 0.67177 0.5654837 0 4.124498e-05 FALSE 4.0625e-06 ENSE00001316627_025 ENSE00001316627 025 15 89857801 89857970 + 42 96 32 A G 89857937 2434 137 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAGGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314705 89314706 89314706 exon -2 0.9895833 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAGGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 277 2704 0.001768959 0.0005928301 0.001180894 0.9949507 0.9954627 0.9950377 0.929829 NA NA -0.9932687 -0.9292361 0.9952067 0.9624333 NA -0.9612524 NA TRUE NA 1 7.047 . downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 1 NA AAG A,G 1.647e-05 15:89314706 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 missense_variant 2.606261 0.96256 0.9707 0.67177 0.9983097 0 4.124498e-05 FALSE 8.12519e-06 ENSE00001316627_027 ENSE00001316627 027 15 89857801 89857970 + 42 96 32 A T 89857953 2436 153 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTTTTATGTGCTACCATTCC 89314569 89314739 89314721 89314722 89314722 downstr_intron 15 1.483871 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTTTTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 108 15 0.9996183 1 0.9998092 0.9949507 0.9954627 0.9950377 0.929829 NA NA 0.004580635 0.07017102 0.9952067 0.9624333 NA 0.03737583 NA FALSE NA 0 -1.538 rs28493988 downstream_gene_variant MODIFIER POLG HGNC 9179 ENST00000526671 rs28493988 1 T:0.0453 T:0.0832 T:0.0086 NA T:0.1052 T:0.001 T:0.0041 T:0.0595 T:0.0023 TAT A,T 0.015 15:89314722 POLG HGNC Symbol protein_coding 29663 ENSG00000140521 ENSE00003532827 intron_variant -0.238849 0.16136 0.03056 0.069865 0.7241377 0.0907023 4.124498e-05 FALSE 0.0132654 ENSE00001362586_007 ENSE00001362586 007 12 75895662 75895831 - 41 78 51 T C 75895708 2507 124 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTACTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75501927 75501928 75501928 exon -6 0.9358974 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAGTAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 208 175 0.9947395 0.9709062 0.9828228 NA NA 0.9674036 0.9188161 NA NA 0.02733592 0.05209005 NA 0.9431099 NA 0.03971298 NA FALSE NA 0.997 1.921 . missense_variant MODERATE KRR1 HGNC 5176 ENST00000229214 8/10 rs535120586 1 tolerated(0.1) benign(0.001) C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 ATT T,C 5.766e-05 12:75501928 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 missense_variant 1.509245 0.91535 0.89775 0.706548 0.966819 0 0.01935058 FALSE 6.10481e-05 ENSE00001362586_009 ENSE00001362586 009 12 75895662 75895831 - 41 78 51 T G 75895720 2509 112 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTGCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75501939 75501940 75501940 exon -18 0.7820513 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGCAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 29 287 1 1 1 NA NA 0.9674036 0.9188161 NA NA 0.03259642 0.08118385 NA 0.9431099 NA 0.05689014 NA FALSE NA 1 3.26 . missense_variant MODERATE KRR1 HGNC 5176 ENST00000229214 8/10 1 tolerated(0.09) benign(0.022) NA TTC T,G 8.237e-06 12:75501940 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 missense_variant 3.20426 0.9401 0.91542 0.706548 0.981271 0 0.01935058 FALSE 4.06941e-06 ENSE00001362586_014 ENSE00001362586 014 12 75895662 75895831 - 41 78 51 C G 75895733 2514 99 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTGTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75501952 75501953 75501953 exon -31 0.6153846 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCACAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 10 72 0.95 0.981077 0.9655385 NA NA 0.9674036 0.9188161 NA NA -0.01740358 0.06226086 NA 0.9431099 NA 0.02242864 NA FALSE NA 1 1.498 rs139059786 missense_variant MODERATE KRR1 HGNC 5176 ENST00000229214 8/10 rs139059786 1 deleterious(0.03) benign(0.046) NA G:0 G:0.0005 TCT C,G 9.884e-05 12:75501953 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 missense_variant 3.074701 0.93959 0.93268 0.706548 0.9923967 0 0.01935058 FALSE 0.00010987 ENSE00001362586_019 ENSE00001362586 019 12 75895662 75895831 - 41 78 51 A G 75895763 2519 69 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTGGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75501982 75501983 75501983 exon 18 0.2307692 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCCAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 102 1287 0.9845079 0.9994064 0.9919571 NA NA 0.9674036 0.9188161 NA NA 0.01710429 0.08059025 NA 0.9431099 NA 0.04884727 NA FALSE NA 0.999 0.535 . synonymous_variant LOW KRR1 HGNC 5176 ENST00000229214 8/10 1 NA TAG A,G 8.237e-06 12:75501983 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 synonymous_variant 1.310363 0.89532 0.7059 0.706548 0.7458787 0 0.01935058 FALSE 4.07199e-06 ENSE00001362586_024 ENSE00001362586 024 12 75895662 75895831 - 41 78 51 G A 75895786 2524 46 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTAAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75502005 75502006 75502006 upstr_intron -6 -0.09803922 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTTAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 70 146 1 1 1 NA NA 0.9674036 0.9188161 NA NA 0.03259642 0.08118385 NA 0.9431099 NA 0.05689014 NA FALSE NA 0.655 0.606 . splice_region_variant&intron_variant LOW KRR1 HGNC 5176 ENST00000229214 7/9 rs545784265 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 TGA G,A 8.237e-06 12:75502006 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 splice_region_variant 1.267697 0.86357 0.37067 0.156188 0.7681512 0.520412 0.01935058 FALSE 1.22862e-05 ENSE00001362586_026 ENSE00001362586 026 12 75895662 75895831 - 41 78 51 T C 75895794 2526 38 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTGAAAACGGCATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75502013 75502014 75502014 upstr_intron -14 -0.254902 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATGCCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 197 82 1 1 1 NA NA 0.9674036 0.9188161 NA NA 0.03259642 0.08118385 NA 0.9431099 NA 0.05689014 NA FALSE NA 0 -1.53 . intron_variant MODIFIER KRR1 HGNC 5176 ENST00000229214 7/9 1 NA GTA T,C 8.237e-06 12:75502014 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 3_prime_UTR_variant 0.371678 0.19384 0.10962 0.099367 0.5491764 0.15636 0.01935058 FALSE 8.1809e-06 ENSE00001362586_027 ENSE00001362586 027 12 75895662 75895831 - 41 78 51 A C 75895799 2527 33 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTCCAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75502018 75502019 75502019 upstr_intron -19 -0.3529412 ACTTCTCCTCTACATTATTTCTGATGTAATTGGAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 23 36 1 1 1 NA NA 0.9674036 0.9188161 NA NA 0.03259642 0.08118385 NA 0.9431099 NA 0.05689014 NA FALSE NA 0.018 2.713 . intron_variant MODIFIER KRR1 HGNC 5176 ENST00000229214 7/9 rs562776895 1 C:0.0004 C:0 C:0 NA C:0 C:0 C:0.002 TAC A,C 0.0001977 12:75502019 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 3_prime_UTR_variant 0.401964 0.33116 0.47513 0.099367 0.5165469 0.638072 0.01935058 FALSE 0.000147647 ENSE00001362586_028 ENSE00001362586 028 12 75895662 75895831 - 41 78 51 A G 75895814 2528 18 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAGTAATGTAGAGGAGAAGT 75501881 75502051 75502033 75502034 75502034 upstr_intron -34 -0.6470588 ACTTCTCCTCTACATTACTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant 12 27 0.9440795 0.9555376 0.9498085 96 30 0.9942904 1 0.9971452 NA NA 0.9674036 0.9188161 NA NA 0.02688678 0.08118385 NA 0.9431099 NA 0.05403532 NA FALSE NA 0.301 2.788 . intron_variant MODIFIER KRR1 HGNC 5176 ENST00000229214 7/9 1 NA AAT A,G 8.237e-06 12:75502034 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 3_prime_UTR_variant 0.302743 0.2427 0.23989 0.156188 0.5779866 0.142333 0.01935058 FALSE 4.09762e-06 ENSE00001420883_002 ENSE00001420883 002 12 9013424 9013593 + 53 75 42 C T 9013442 634 19 TCTTGCAGCTGCTGCCTGTTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT 8860827 8860997 8860845 8860846 8860846 upstr_intron -35 -0.6415094 TCTTGCAGCTGCTGCCTGTTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT mutant NA NA NA NA NA 47 83 1 1 1 NA NA 0.9770342 0.8828398 NA NA 0.02296581 0.1171602 NA 0.929937 NA 0.07006303 NA FALSE NA 0 0.135 rs35198143 intron_variant MODIFIER A2ML1 HGNC 23336 ENST00000299698 26/35 rs35198143 1 T:0.0091 T:0.1196 NA T:0 T:0.1511 T:0.045 T:0.0226 T:0.1466 GCT C,T 0.104 12:8860846 A2ML1 HGNC Symbol protein_coding 64529 ENSG00000166535 ENSE00001420883 intron_variant 0.509881 0.13269 0.01506 0.095506 0.7704498 0.147498 1.329022e-22 FALSE 0.104683 ENSE00001420883_012 ENSE00001420883 012 12 9013424 9013593 + 53 75 42 C T 9013517 644 94 TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCATAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT 8860827 8860997 8860920 8860921 8860921 exon -35 0.5466667 TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCATAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT mutant 16 14 0.85 0.85 0.85 269 35 0.95 0.95 0.95 NA NA 0.9770342 0.8828398 NA NA -0.02703419 0.06716025 NA 0.929937 NA 0.02006303 NA FALSE NA 0.068 2.614 . missense_variant MODERATE A2ML1 HGNC 23336 ENST00000299698 27/36 1 deleterious(0.03) possibly_damaging(0.868) NA ACA C,T 8.258e-06 12:8860921 A2ML1 HGNC Symbol protein_coding 64529 ENSG00000166535 ENSE00001420883 missense_variant 5.073331 0.95935 0.59232 0.743674 0.9963996 0 1.329022e-22 FALSE 1.21832e-05 ENSE00001420883_022 ENSE00001420883 022 12 9013424 9013593 + 53 75 42 C G 9013574 654 151 TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTGTTGATACCCTCCTTCTCAT 8860827 8860997 8860977 8860978 8860978 downstr_intron 23 1.560976 TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTGTTGATACCCTCCTTCTCAT TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT mutant NA NA NA NA NA 76 26 0.95 0.95 0.95 NA NA 0.9770342 0.8828398 NA NA -0.02703419 0.06716025 NA 0.929937 NA 0.02006303 NA FALSE NA 0 0.494 . intron_variant MODIFIER A2ML1 HGNC 23336 ENST00000299698 27/35 1 NA TCT C,G 8.264e-06 12:8860978 A2ML1 HGNC Symbol protein_coding 64529 ENSG00000166535 ENSE00001420883 intron_variant 0.317168 0.23531 0.13684 0.095506 0.3289652 0.0906922 1.329022e-22 FALSE 4.06213e-06 ENSE00001420883_023 ENSE00001420883 023 12 9013424 9013593 + 53 75 42 A C 9013578 655 155 TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGCTACCCTCCTTCTCAT 8860827 8860997 8860981 8860982 8860982 downstr_intron 27 1.658537 TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGCTACCCTCCTTCTCAT TCTTGCAGCTGCTGCCTGCTGCCCTGACTCACTGCCTCCCTGTTTGCCTCTAGGGTGGTGTTGATGATGAGGTCTCCTTGACTGCGTATGTCACAGCTGCATTGCTGGAGATGGGAAAGGATGTAGATGTAAGTTCTCCTGGCTCCTGCTCTTGATACCCTCCTTCTCAT mutant 97 92 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9770342 0.8828398 NA NA NA NA NA 0.929937 NA NA NA NA NA 0 -0.644 . intron_variant MODIFIER A2ML1 HGNC 23336 ENST00000299698 27/35 1 NA GAT A,C 4.959e-05 12:8860982 A2ML1 HGNC Symbol protein_coding 64529 ENSG00000166535 ENSE00001420883 intron_variant -0.04501 0.17002 0.02409 0.095506 0.3288946 0.0539504 1.329022e-22 FALSE 4.87468e-05 ENSE00001427626_003 ENSE00001427626 003 17 2866650 2866819 + 74 33 63 G A 2866678 278 29 AGACCTGGAAACAGTGGTCAGACTTTACAGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA 2963355 2963525 2963383 2963384 2963384 upstr_intron -46 -0.6081081 AGACCTGGAAACAGTGGTCAGACTTTACAGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA mutant 48 17 0.7528982 0.9474496 0.8501739 NA NA NA NA NA 0.9847728 0.9184102 0.997956 0.9781436 -0.2318745 0.02903946 NA NA 0.9515915 0.9880498 -0.1014175 NA NA NA FALSE 0.001 0.78 . intron_variant MODIFIER RAP1GAP2 HGNC 29176 ENST00000540393 5/24 1 NA CGG G,A 6.609e-05 17:2963384 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001427626 intron_variant 0.211098 0.18918 0.08059 0.078448 0.743103 0.0544882 0.9559386 TRUE 8.53957e-05 ENSE00001427626_008 ENSE00001427626 008 17 2866650 2866819 + 74 33 63 C T 2866721 283 72 AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGTAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA 2963355 2963525 2963426 2963427 2963427 upstr_intron -3 -0.02702703 AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGTAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA mutant 35 54 0.85 0.85 0.85 NA NA NA NA NA 0.9847728 0.9184102 0.997956 0.9781436 -0.1347728 -0.06841016 NA NA 0.9515915 0.9880498 -0.1015915 NA NA NA FALSE 0.394 0.876 . splice_region_variant&intron_variant LOW RAP1GAP2 HGNC 29176 ENST00000540393 5/24 1 NA GCA C,T 8.26e-06 17:2963427 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001427626 splice_region_variant 2.437126 0.97888 0.79445 0.078448 0.9150615 0.969085 0.9559386 TRUE NA ENSE00001427626_013 ENSE00001427626 013 17 2866650 2866819 + 74 33 63 C T 2866744 288 95 AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCTAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA 2963355 2963525 2963449 2963450 2963450 exon -13 0.6363636 AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCTAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA mutant 25 36 0.85 0.85 0.85 NA NA NA NA NA 0.9847728 0.9184102 0.997956 0.9781436 -0.1347728 -0.06841016 NA NA 0.9515915 0.9880498 -0.1015915 NA NA NA FALSE 1 1.358 . synonymous_variant LOW RAP1GAP2 HGNC 29176 ENST00000540393 6/25 1 NA CCA C,T 8.26e-06 17:2963450 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001427626 synonymous_variant 1.987469 0.96621 0.83703 0.706298 0.8694403 0 0.9559386 TRUE 4.06207e-06 ENSE00001461269_001 ENSE00001461269 001 2 228118769 228118938 + 59 63 48 A G 228118804 5078 36 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATCGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254087 227254088 227254088 upstr_intron -24 -0.3898305 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACGATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 3951 551 0.9639171 0.9777749 0.970846 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.002565171 0.03234725 0.8624841 0.9533898 NA 0.01745621 NA FALSE NA 0.015 0.416 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA CAA A,G 8.276e-06 2:227254088 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant 0.043366 0.10525 0.00195 0.074636 0.4441897 0.0840973 NA NA 4.06795e-06 ENSE00001461269_002 ENSE00001461269 002 2 228118769 228118938 + 59 63 48 G A 228118807 5079 39 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAATATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254090 227254091 227254091 upstr_intron -21 -0.3389831 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATATTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 191 1788 0.9371189 0.9387184 0.9379187 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.02423308 -0.00670925 0.8624841 0.9533898 NA -0.01547116 NA FALSE NA 0.02 -0.247 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA TGT G,A 2.483e-05 2:227254091 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant 0.227421 0.16968 0.01617 0.074636 0.4946771 0.0840973 NA NA 2.84766e-05 ENSE00001461269_004 ENSE00001461269 004 2 228118769 228118938 + 59 63 48 C T 228118813 5081 45 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAATTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254096 227254097 227254097 upstr_intron -15 -0.2372881 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAATTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 6303 42 0.9915633 0.9846317 0.9880975 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.03021133 0.039204 0.8624841 0.9533898 NA 0.03470767 NA FALSE NA 0.235 0.497 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA ACT C,T 8.277e-06 2:227254097 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant 0.271367 0.45859 0.00397 0.074636 0.55128 0.111171 NA NA 8.1361e-06 ENSE00001461269_005 ENSE00001461269 005 2 228118769 228118938 + 59 63 48 G A 228118815 5082 47 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAATAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254098 227254099 227254099 upstr_intron -13 -0.2033898 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTATTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 1684 1615 0.9539234 0.9503278 0.9521256 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.007428569 0.004900113 0.8624841 0.9533898 NA -0.001264228 NA FALSE NA 0.32 0.102 rs77431913 intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs77431913 1 A:0.0671 A:0.0847 A:0.0101 NA A:0.1776 A:0.0129 A:0.0256 A:0.0694 A:0.0021 TGT G,A 0.025 2:227254099 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant 0.74995 0.9532 0.17229 0.074636 0.4676 0.816893 NA NA 0.024748 ENSE00001461269_006 ENSE00001461269 006 2 228118769 228118938 + 59 63 48 C G 228118819 5083 51 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAACAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254102 227254103 227254103 upstr_intron -9 -0.1355932 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTGTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 1445 273 0.7972329 0.776136 0.7866845 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.1641191 -0.1692916 0.8624841 0.9533898 NA -0.1667054 NA FALSE NA 0.215 0.377 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA TCT C,G 8.277e-06 2:227254103 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant 0.369653 0.94581 0.11149 0.074636 0.5788398 0.271072 NA NA 4.06679e-06 ENSE00001461269_007 ENSE00001461269 007 2 228118769 228118938 + 59 63 48 T C 228118821 5084 53 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAGAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254104 227254105 227254105 upstr_intron -7 -0.1016949 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTCTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 1347 2684 0.7970771 0.8709155 0.8339963 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.1642749 -0.07451216 0.8624841 0.9533898 NA -0.1193935 NA FALSE NA 0.022 -0.78 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA TTT T,C 8.277e-06 2:227254105 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 splice_region_variant -0.183985 0.7964 0.03833 0.074636 0.6225469 0.263025 NA NA 4.066e-06 ENSE00001461269_008 ENSE00001461269 008 2 228118769 228118938 + 59 63 48 G A 228118823 5085 55 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCTAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254106 227254107 227254107 upstr_intron -5 -0.06779661 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTAGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 340 1790 0.802297 0.6452083 0.7237527 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.1590549 -0.3002194 0.8624841 0.9533898 NA -0.2296371 NA FALSE NA 0.038 0.121 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA TGG G,A 5.794e-05 2:227254107 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 splice_region_variant 0.368561 0.85745 0.10713 0.074636 0.556797 0.278362 NA NA 0.000113852 ENSE00001461269_009 ENSE00001461269 009 2 228118769 228118938 + 59 63 48 A G 228118829 5086 61 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGCCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254112 227254113 227254113 exon 2 0.03174603 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGGCCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 1420 1282 0.8033097 0.8001972 0.8017535 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.1580422 -0.1452304 0.8624841 0.9533898 NA -0.1516363 NA FALSE NA 0.982 2.726 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA GAC A,G 8.277e-06 2:227254113 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 missense_variant 1.459385 0.98693 0.88313 0.553676 0.9220141 0 NA NA 4.06517e-06 ENSE00001461269_010 ENSE00001461269 010 2 228118769 228118938 + 59 63 48 G A 228118839 5087 71 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCTCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254122 227254123 227254123 exon 12 0.1904762 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGAGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 2882 1333 0.9987077 0.9340716 0.9663896 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.03735574 -0.0113561 0.8624841 0.9533898 NA 0.01299982 NA FALSE NA 0.224 -1.308 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA GGG G,A 8.276e-06 2:227254123 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 synonymous_variant 0.985444 0.93847 0.07751 0.553676 0.6985833 0 NA NA NA ENSE00001461269_011 ENSE00001461269 011 2 228118769 228118938 + 59 63 48 A G 228118844 5088 76 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCCTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254127 227254128 227254128 exon 17 0.2698413 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAGGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 2667 1750 0.8402492 0.7924914 0.8163703 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.1211027 -0.1529363 0.8624841 0.9533898 NA -0.1370195 NA FALSE NA 1 4.248 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 COSM1494806&COSM1494807 1 NA AAG A,G 8.276e-06 2:227254128 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 missense_variant 4.302559 0.98705 0.93705 0.553676 0.9987343 0 NA NA 2.03234e-05 ENSE00001461269_013 ENSE00001461269 013 2 228118769 228118938 + 59 63 48 T C 228118862 5090 94 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCGTTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254145 227254146 227254146 exon -29 0.5555556 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAACGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 705 1644 0.9978015 0.9375518 0.9676767 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.03644954 -0.00787586 0.8624841 0.9533898 NA 0.01428684 NA FALSE NA 0.001 -0.661 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA ATG T,C 8.276e-06 2:227254146 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 missense_variant -1.476528 0.14544 0.02034 0.638212 0.6492998 0 NA NA 8.12757e-06 ENSE00001461269_015 ENSE00001461269 015 2 228118769 228118938 + 59 63 48 G A 228118867 5092 99 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTTGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254150 227254151 227254151 exon -24 0.6349206 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCAAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 2625 3486 0.7836024 0.778335 0.7809687 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.1777496 -0.1670927 0.8624841 0.9533898 NA -0.1724211 NA FALSE NA 0 -1.206 rs80109666 intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs80109666 1 A:0.0607 A:0.0855 A:0.0115 NA A:0.1438 A:0.0129 A:0.0256 A:0.0666 A:0.0024 CGA G,A 0.023 2:227254151 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 missense_variant -1.190104 0.11381 0.01057 0.638212 0.6978866 0 NA NA 0.0230539 ENSE00001461269_016 ENSE00001461269 016 2 228118769 228118938 + 59 63 48 C T 228118886 5093 118 GGCTCTACTTTATGTGTTATGGGGACAATATAACTTTAAATAACCTACTGAGAGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254169 227254170 227254170 exon -5 0.9365079 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACTCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 3644 773 0.937042 0.9177329 0.9273875 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.02430994 -0.02769482 0.8624841 0.9533898 NA -0.02600238 NA FALSE NA 0.754 1.402 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs372626966 1 NA T:0 T:0.0002 CCC C,T 4.965e-05 2:227254170 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 missense_variant 2.965288 0.96393 0.53077 0.638212 0.7560078 0 NA NA 6.50285e-05 ENSE00001461269_017 ENSE00001461269 017 2 228118769 228118938 + 59 63 48 G C 228118905 5094 137 GGCTCTACTTTATGTGTTATGGGGACAATATAAGTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254188 227254189 227254189 downstr_intron 15 1.319149 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAACTTATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 754 559 0.9854494 0.9825512 0.9840003 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.02409743 0.03712351 0.8624841 0.9533898 NA 0.03061047 NA FALSE NA 0 -0.604 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA AGT G,C 8.275e-06 2:227254189 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant -0.173997 0.14156 0.02734 0.074636 0.5748743 0.0448725 NA NA 1.22025e-05 ENSE00001461269_018 ENSE00001461269 018 2 228118769 228118938 + 59 63 48 T C 228118907 5095 139 GGCTCTACTTTATGTGTTATGGGGACAATATGACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254190 227254191 227254191 downstr_intron 17 1.361702 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTCATATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 248 1844 0.8737473 0.8955016 0.8846245 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.08760464 -0.0499261 0.8624841 0.9533898 NA -0.06876537 NA FALSE NA 0 -0.885 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA TTA T,C 8.276e-06 2:227254191 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant 0.031649 0.11626 0.00318 0.074636 0.649789 0.0448725 NA NA 8.13603e-06 ENSE00001461269_021 ENSE00001461269 021 2 228118769 228118938 + 59 63 48 A G 228118910 5098 142 GGCTCTACTTTATGTGTTATGGGGACAACATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254193 227254194 227254194 downstr_intron 20 1.425532 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATGTTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 254 33 0.9443414 0.95 0.9471707 0.8470142 0.8779541 0.961352 0.9454277 NA NA -0.01701055 0.004572312 0.8624841 0.9533898 NA -0.006219117 NA FALSE NA 0 -1.718 rs13386404 intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs13386404 1 G:0.1384 G:0.3986 G:0.0418 NA G:0.0536 G:0.0328 G:0.0511 G:0.2952 G:0.032 TAT A,G 0.063 2:227254194 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant 0.052371 0.10971 0.00808 0.074636 0.6001378 0.0448725 NA NA 0.0582021 ENSE00001461269_022 ENSE00001461269 022 2 228118769 228118938 + 59 63 48 C T 228118916 5099 148 GGCTCTACTTTATGTGTTATGGAGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254199 227254200 227254200 downstr_intron 26 1.553191 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCTCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 425 38 0.9920445 0.9958151 0.9939298 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.03069251 0.05038738 0.8624841 0.9533898 NA 0.04053995 NA FALSE NA 0.006 1.152 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA CCC C,T 8.276e-06 2:227254200 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461269 intron_variant 0.072997 0.16274 0.02801 0.074636 0.4093236 0.0448725 NA NA 4.07136e-06 ENSE00001461281_001 ENSE00001461281 001 2 228110611 228110780 + 59 63 48 T C 228110626 5032 16 TTGGGTTCAGTGCTGCTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245909 227245910 227245910 upstr_intron -44 -0.7288136 TTGGGTTCAGTGCTGCTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 484 545 0.985305 0.9986621 0.9919835 0.9853702 0.9918064 0.9936331 0.9878615 NA NA -0.008328125 0.01080057 0.9885883 0.9907473 NA 0.001236223 NA FALSE NA 0 -0.211 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs541435495 1 C:0.0006 C:0 C:0 NA C:0 C:0 C:0.0031 GTT T,C 0.000182 2:227245910 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant -0.093153 0.12252 0.0241 0.074636 0.4649177 0.0455939 NA NA 0.000154458 ENSE00001461281_002 ENSE00001461281 002 2 228110611 228110780 + 59 63 48 G T 228110633 5033 23 TTGGGTTCAGTGCTGTTTCTTGTGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245916 227245917 227245917 upstr_intron -37 -0.6101695 TTGGGTTCAGTGCTGTTTCTTGTGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 66 329 1 0.9991861 0.9995931 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006366907 0.01132461 0.9885883 0.9907473 NA 0.008845756 NA FALSE NA 0 0.355 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs200381393 1 NA T:0.0003 T:0.0027 GGG G,T 0.001423 2:227245917 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant -0.058864 0.11527 0.00372 0.074636 0.7600985 0.119696 NA NA 0.00156071 ENSE00001461281_003 ENSE00001461281 003 2 228110611 228110780 + 59 63 48 G A 228110634 5034 24 TTGGGTTCAGTGCTGTTTCTTGGAATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245917 227245918 227245918 upstr_intron -36 -0.5932203 TTGGGTTCAGTGCTGTTTCTTGGAATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 121 45 1 1 1 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006366907 0.01213846 0.9885883 0.9907473 NA 0.009252682 NA FALSE NA 0 -0.037 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA GGA G,A 8.274e-06 2:227245918 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.235938 0.15759 0.04955 0.074636 0.7453779 0.119696 NA NA 4.06445e-06 ENSE00001461281_004 ENSE00001461281 004 2 228110611 228110780 + 59 63 48 A G 228110635 5035 25 TTGGGTTCAGTGCTGTTTCTTGGGGTGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245918 227245919 227245919 upstr_intron -35 -0.5762712 TTGGGTTCAGTGCTGTTTCTTGGGGTGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 499 189 0.9999175 0.993285 0.9966012 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006284406 0.005423427 0.9885883 0.9907473 NA 0.005853917 NA FALSE NA 0 -2.131 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA GAT A,G 8.274e-06 2:227245919 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.201111 0.13852 0.00845 0.074636 0.6027658 0.119696 NA NA NA ENSE00001461281_005 ENSE00001461281 005 2 228110611 228110780 + 59 63 48 C A 228110639 5036 29 TTGGGTTCAGTGCTGTTTCTTGGGATGAACCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245922 227245923 227245923 upstr_intron -31 -0.5084746 TTGGGTTCAGTGCTGTTTCTTGGGATGAACCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 221 336 0.9977438 0.9969997 0.9973717 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.004110665 0.009138141 0.9885883 0.9907473 NA 0.006624403 NA FALSE NA 0 -0.402 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA ACC C,A 1.655e-05 2:227245923 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant -0.072894 0.11026 0.01199 0.074636 0.5786669 0.119696 NA NA 8.12803e-06 ENSE00001461281_006 ENSE00001461281 006 2 228110611 228110780 + 59 63 48 C T 228110643 5037 33 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTTCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245926 227245927 227245927 upstr_intron -27 -0.440678 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTTCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 140 12 1 1 1 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006366907 0.01213846 0.9885883 0.9907473 NA 0.009252682 NA FALSE NA 0 -0.404 rs112712399 intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs112712399 1 T:0.0252 T:0 T:0.1225 NA T:0 T:0.0239 T:0.0174 T:0.0029 T:0.0126 TCC C,T 0.036 2:227245927 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.08368 0.06269 0.0068 0.074636 0.7663024 0.119696 NA NA 0.0429124 ENSE00001461281_007 ENSE00001461281 007 2 228110611 228110780 + 59 63 48 C G 228110644 5038 34 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCGTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245927 227245928 227245928 upstr_intron -26 -0.4237288 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCGTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 889 417 1 0.9999087 0.9999543 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006366907 0.01204714 0.9885883 0.9907473 NA 0.009207025 NA FALSE NA 0 -0.775 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs368386489 1 NA G:0.0003 G:0 CCT C,G 8.275e-06 2:227245928 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.048648 0.0984 0.00489 0.074636 0.5515446 0.119696 NA NA 4.06398e-06 ENSE00001461281_008 ENSE00001461281 008 2 228110611 228110780 + 59 63 48 C G 228110646 5039 36 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTGATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245929 227245930 227245930 upstr_intron -24 -0.3898305 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTGATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 664 482 0.9993786 1 0.9996893 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.005745473 0.01213846 0.9885883 0.9907473 NA 0.008941966 NA FALSE NA 0 0.095 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA TCA C,G 8.275e-06 2:227245930 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant -0.0894 0.17519 0.09162 0.074636 0.5758374 0.121008 NA NA 1.21915e-05 ENSE00001461281_013 ENSE00001461281 013 2 228110611 228110780 + 59 63 48 A G 228110653 5044 43 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGGCTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245936 227245937 227245937 upstr_intron -17 -0.2711864 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGGCTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 514 1010 0.9983064 0.9978859 0.9980961 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.004673306 0.01002432 0.9885883 0.9907473 NA 0.007348811 NA FALSE NA 0 -0.218 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA GAC A,G 8.275e-06 2:227245937 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.112608 0.14925 0.03106 0.074636 0.5243683 0.119696 NA NA 4.06349e-06 ENSE00001461281_014 ENSE00001461281 014 2 228110611 228110780 + 59 63 48 T C 228110655 5045 45 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACCTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245938 227245939 227245939 upstr_intron -15 -0.2372881 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACCTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 19 974 0.9477514 0.9999609 0.9738562 0.9853702 0.9918064 0.9936331 0.9878615 NA NA -0.04588168 0.01209938 0.9885883 0.9907473 NA -0.01689115 NA FALSE NA 0 -0.324 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA CTT T,C 8.275e-06 2:227245939 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.109728 0.14651 0.03135 0.074636 0.5145166 0.119696 NA NA 8.12744e-06 ENSE00001461281_015 ENSE00001461281 015 2 228110611 228110780 + 59 63 48 T A 228110665 5046 55 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTACCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245948 227245949 227245949 upstr_intron -5 -0.06779661 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTACCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 327 192 0.9928945 1 0.9964473 0.9853702 0.9918064 0.9936331 0.9878615 NA NA -0.0007385444 0.01213846 0.9885883 0.9907473 NA 0.005699957 NA FALSE NA 0.943 4.154 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA TTC T,A 8.275e-06 2:227245949 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 splice_region_variant 0.262518 0.26075 0.73061 0.074636 0.7689377 0.185464 NA NA NA ENSE00001461281_022 ENSE00001461281 022 2 228110611 228110780 + 59 63 48 G A 228110706 5053 96 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCAGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245989 227245990 227245990 exon -27 0.5873016 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCAGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 136 514 1 1 1 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006366907 0.01213846 0.9885883 0.9907473 NA 0.009252682 NA FALSE NA 0.999 5.128 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA CGG G,A 2.482e-05 2:227245990 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 missense_variant 5.381167 0.94976 0.91767 0.638212 0.9983326 0 NA NA 2.84474e-05 ENSE00001461281_023 ENSE00001461281 023 2 228110611 228110780 + 59 63 48 G A 228110716 5054 106 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGAATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245999 227246000 227246000 exon -17 0.7460317 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGAATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 99 77 0.9882073 1 0.9941037 0.9853702 0.9918064 0.9936331 0.9878615 NA NA -0.005425762 0.01213846 0.9885883 0.9907473 NA 0.003356348 NA FALSE NA 1 5.128 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA GGA G,A 8.275e-06 2:227246000 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 missense_variant 6.339619 0.98498 0.9388 0.638212 0.9976057 0 NA NA 4.06402e-06 ENSE00001461281_025 ENSE00001461281 025 2 228110611 228110780 + 59 63 48 C T 228110749 5056 139 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACATAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227246032 227246033 227246033 downstr_intron 17 1.361702 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACATAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 16 261 1 1 1 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006366907 0.01213846 0.9885883 0.9907473 NA 0.009252682 NA FALSE NA 0 -0.946 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 1 NA ACA C,T 8.277e-06 2:227246033 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.046012 0.15615 0.01813 0.074636 0.7097163 0.046875 NA NA 4.07292e-06 ENSE00001461281_026 ENSE00001461281 026 2 228110611 228110780 + 59 63 48 G A 228110754 5057 144 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAAATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227246037 227246038 227246038 downstr_intron 22 1.468085 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAAATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 154 385 0.9970229 0.9990053 0.9980141 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.003389763 0.0111438 0.9885883 0.9907473 NA 0.007266783 NA FALSE NA 0 -0.032 . intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs529104524 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 AGA G,A 0.0002069 2:227246038 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.223625 0.16167 0.04157 0.074636 0.703598 0.046875 NA NA 0.000179399 ENSE00001461281_027 ENSE00001461281 027 2 228110611 228110780 + 59 63 48 A G 228110762 5058 152 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAGTAAATGCTTTGCTGAATG 227245894 227246064 227246045 227246046 227246046 downstr_intron 30 1.638298 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAGTAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 137 17 1 1 1 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006366907 0.01213846 0.9885883 0.9907473 NA 0.009252682 NA FALSE NA 0 0.061 rs147052575 intron_variant&non_coding_transcript_variant MODIFIER AC097662.2 Clone_based_vega_gene NA ENST00000437673 2/2 rs147052575 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 AAT A,G 2.483e-05 2:227246046 AC097662.1 Clone-based (Ensembl) gene antisense 104149 ENSG00000236432 ENSE00001461281 non_coding_transcript_exon_variant 0.45859 0.11734 0.01225 0.074636 0.5520109 0.046875 NA NA 2.86135e-05 ENSE00001466198_003 ENSE00001466198 003 2 174125738 174125907 + 53 75 42 T C 174125755 3248 18 TAGTAGAGCAGACTGTGCTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261026 173261027 173261027 upstr_intron -36 -0.6603774 TAGTAGAGCAGACTGTGCTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 483 371 1 1 1 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01467215 0.0009652238 0.988699 0.9921813 NA 0.007818688 NA FALSE NA 0 -0.009 . intron_variant MODIFIER MLTK Uniprot_gn NA ENST00000375213 17/19 1 NA GTT T,C 8.273e-06 2:173261027 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 intron_variant 1.323671 0.21047 0.0426 0.106106 0.848748 0.129676 NA NA 4.07222e-06 ENSE00001466198_005 ENSE00001466198 005 2 174125738 174125907 + 53 75 42 T C 174125758 3250 21 TAGTAGAGCAGACTGTGTTACGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261029 173261030 173261030 upstr_intron -33 -0.6037736 TAGTAGAGCAGACTGTGTTACGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 72 38 1 1 1 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01467215 0.0009652238 0.988699 0.9921813 NA 0.007818688 NA FALSE NA 0 0.426 . intron_variant MODIFIER MLTK Uniprot_gn NA ENST00000375213 17/19 1 NA ATG T,C 8.273e-06 2:173261030 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 intron_variant 1.866881 0.23167 0.08826 0.106106 0.8520156 0.129676 NA NA 4.071e-06 ENSE00001466198_008 ENSE00001466198 008 2 174125738 174125907 + 53 75 42 A G 174125765 3253 28 TAGTAGAGCAGACTGTGTTATGGTACTGCACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261036 173261037 173261037 upstr_intron -26 -0.4716981 TAGTAGAGCAGACTGTGTTATGGTACTGCACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 1000 2205 0.9125964 0.9410034 0.9267999 0.9860019 0.991396 0.9853278 0.9990348 NA NA -0.07273147 -0.05803142 0.988699 0.9921813 NA -0.06538145 NA FALSE NA 0 0.42 . intron_variant MODIFIER MLTK Uniprot_gn NA ENST00000375213 17/19 1 NA TAC A,G 1.655e-05 2:173261037 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 intron_variant 2.276774 0.2244 0.08901 0.156188 0.887092 0.172027 NA NA 1.22e-05 ENSE00001466198_010 ENSE00001466198 010 2 174125738 174125907 + 53 75 42 C T 174125777 3255 40 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAATTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261048 173261049 173261049 upstr_intron -14 -0.245283 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAATTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 117 99 1 1 1 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01467215 0.0009652238 0.988699 0.9921813 NA 0.007818688 NA FALSE NA 0.044 0.259 . intron_variant MODIFIER MLTK Uniprot_gn NA ENST00000375213 17/19 1 NA ACT C,T 8.273e-06 2:173261049 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 intron_variant 2.417949 0.64488 0.10296 0.156188 0.8090583 0.951845 NA NA 4.06425e-06 ENSE00001466198_011 ENSE00001466198 011 2 174125738 174125907 + 53 75 42 G C 174125790 3256 53 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCACCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261061 173261062 173261062 upstr_intron -1 0 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCACCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 57 246 0 0.002058478 0.001029239 0.9860019 0.991396 0.9853278 0.9990348 NA NA -0.9853278 -0.9969763 0.988699 0.9921813 NA -0.9911521 NA TRUE NA 1 9.199 . splice_acceptor_variant HIGH MLTK Uniprot_gn NA ENST00000375213 17/19 1 NA HC AGC G,C 8.273e-06 2:173261062 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 splice_acceptor_variant 5.631899 0.99686 0.99589 0.156188 0.9952111 0.984913 NA NA 4.06379e-06 ENSE00001466198_012 ENSE00001466198 012 2 174125738 174125907 + 53 75 42 C T 174125792 3257 55 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCTACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261063 173261064 173261064 exon 2 0.02666667 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCTACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 410 327 0.9980771 1 0.9990386 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01274928 0.0009652238 0.988699 0.9921813 NA 0.006857254 NA FALSE NA 1 7.269 . missense_variant&splice_region_variant MODERATE MLTK Uniprot_gn NA ENST00000375213 18/20 1 deleterious(0.01) probably_damaging(0.999) NA CCA C,T 8.273e-06 2:173261064 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 missense_variant 7.40723 0.99642 0.99201 0.732398 0.9988597 0 NA NA 4.06398e-06 ENSE00001466198_016 ENSE00001466198 016 2 174125738 174125907 + 53 75 42 T C 174125825 3261 88 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAACAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261096 173261097 173261097 exon 35 0.4666667 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAACAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 163 138 0.9821337 1 0.9910669 0.9860019 0.991396 0.9853278 0.9990348 NA NA -0.003194145 0.0009652238 0.988699 0.9921813 NA -0.00111446 NA FALSE NA 1 7.473 . missense_variant MODERATE MLTK Uniprot_gn NA ENST00000375213 18/20 1 tolerated(0.12) benign(0.253) NA ATA T,C 8.272e-06 2:173261097 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 missense_variant 3.257492 0.99261 0.98693 0.732398 0.9963129 0 NA NA 1.62524e-05 ENSE00001466198_017 ENSE00001466198 017 2 174125738 174125907 + 53 75 42 G T 174125834 3262 97 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAATTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261105 173261106 173261106 exon -32 0.5866667 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAATTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 111 377 0.995849 1 0.9979245 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01052112 0.0009652238 0.988699 0.9921813 NA 0.005743171 NA FALSE NA 1 4.631 . missense_variant MODERATE MLTK Uniprot_gn NA ENST00000375213 18/20 1 deleterious(0) benign(0.003) NA AGT A,T 8.272e-06 2:173261106 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 missense_variant 4.387128 0.98063 0.87252 0.732398 0.9890487 0 NA NA 8.12585e-06 ENSE00001466198_018 ENSE00001466198 018 2 174125738 174125907 + 53 75 42 G A 174125842 3263 105 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTATGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261113 173261114 173261114 exon -24 0.6933333 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTATGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 2173 219 0.9986284 0.9850298 0.9918291 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01330054 -0.014005 0.988699 0.9921813 NA -0.0003522268 NA FALSE NA 1 5.152 . missense_variant MODERATE MLTK Uniprot_gn NA ENST00000375213 18/20 1 deleterious(0) probably_damaging(0.999) NA TGT G,A 8.271e-06 2:173261114 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 missense_variant 6.612735 0.99126 0.97252 0.732398 0.99883 0 NA NA 1.21901e-05 ENSE00001466198_019 ENSE00001466198 019 2 174125738 174125907 + 53 75 42 G A 174125849 3264 112 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTACACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261120 173261121 173261121 exon -17 0.7866667 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTACACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 74 610 1 0.9967613 0.9983807 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01467215 -0.002273446 0.988699 0.9921813 NA 0.006199354 NA FALSE NA 1 3.512 . missense_variant MODERATE MLTK Uniprot_gn NA ENST00000375213 18/20 1 tolerated(0.43) benign(0.009) NA TGC G,A 8.272e-06 2:173261121 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 missense_variant 2.373159 0.98205 0.89858 0.732398 0.903481 0 NA NA 4.06359e-06 ENSE00001466198_020 ENSE00001466198 020 2 174125738 174125907 + 53 75 42 A G 174125859 3265 122 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACGTATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261130 173261131 173261131 exon -7 0.92 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACGTATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 54 219 1 1 1 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01467215 0.0009652238 0.988699 0.9921813 NA 0.007818688 NA FALSE NA 0.643 -0.204 . synonymous_variant LOW MLTK Uniprot_gn NA ENST00000375213 18/20 1 NA CAT A,G 9.928e-05 2:173261131 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 synonymous_variant 0.296323 0.76243 0.43172 0.732398 0.7244673 0 NA NA 9.34899e-05 ENSE00001466198_021 ENSE00001466198 021 2 174125738 174125907 + 53 75 42 C G 174125873 3266 136 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTGTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261144 173261145 173261145 downstr_intron 8 1.195122 TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTGTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 132 619 1 0.9999385 0.9999692 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01467215 0.0009037192 0.988699 0.9921813 NA 0.007787936 NA FALSE NA 0.002 0.539 . splice_region_variant&intron_variant LOW MLTK Uniprot_gn NA ENST00000375213 18/19 1 NA TCT C,G 8.273e-06 2:173261145 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 splice_region_variant 1.091279 0.25321 0.11776 0.106106 0.6667444 0.180866 NA NA 8.13259e-06 ENSE00001483454_002 ENSE00001483454 002 12 52574265 52574434 - 32 96 42 C T 52574282 1633 153 GCTTGGCAAGACACTGGTCCCATCTCACTCACCTGCTCATAGATGGTTTTCATCAACTCCACGAAGCTCTCCAGGCTTTTTAACTTGGTTTCCAGTTCAGTCCGATGAAGACACTCTGCATCCAGGTCCTGGGGTTGGCAGCAGTGGTGAGTGGTGGGAGAGGGAATGGA 52180480 52180650 52180497 52180498 52180498 downstr_intron 15 1.483871 TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGACCAGTGTCTTGCCAAGC TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC mutant NA NA NA NA NA 66 98 1 0.9947865 0.9973932 0.9968264 0.9997596 0.9895487 0.9467741 NA NA 0.01045126 0.04801234 0.998293 0.9681614 NA 0.0292318 NA FALSE NA 0 0.53 . intron_variant MODIFIER KRT80 HGNC 27056 ENST00000313234 4/8 1 NA GCC C,T 8.887e-06 12:52180498 KRT80 HGNC Symbol protein_coding 23004 ENSG00000167767 ENSE00001483454 intron_variant 0.401947 0.26607 0.02718 0.088506 0.5658648 0.0673029 5.430984e-05 FALSE NA ENSE00001483454_010 ENSE00001483454 010 12 52574265 52574434 - 32 96 42 A C 52574316 1641 119 GCTTGGCAAGACACTGGCCCCATCTCACTCACCTGCTCATAGATGGTTTTCCTCAACTCCACGAAGCTCTCCAGGCTTTTTAACTTGGTTTCCAGTTCAGTCCGATGAAGACACTCTGCATCCAGGTCCTGGGGTTGGCAGCAGTGGTGAGTGGTGGGAGAGGGAATGGA 52180480 52180650 52180531 52180532 52180532 exon -20 0.8020833 TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGAGGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC mutant NA NA NA NA NA 111 156 1 1 1 0.9968264 0.9997596 0.9895487 0.9467741 NA NA 0.01045126 0.05322586 0.998293 0.9681614 NA 0.03183856 NA FALSE NA 1 3.35 . missense_variant MODERATE KRT80 HGNC 27056 ENST00000313234 4/9 1 deleterious(0) possibly_damaging(0.595) NA CAT A,C 8.761e-06 12:52180532 KRT80 HGNC Symbol protein_coding 23004 ENSG00000167767 ENSE00001483454 missense_variant 6.01371 0.94027 0.91153 0.732398 0.9808536 0 5.430984e-05 FALSE 6.24859e-06 ENSE00001483454_013 ENSE00001483454 013 12 52574265 52574434 - 32 96 42 T A 52574345 1644 90 GCTTGGCAAGACACTGGCCCCATCTCACTCACCTGCTCATAGATGGTTTTCATCAACTCCACGAAGCTCTCCAGGCTTTTAAACTTGGTTTCCAGTTCAGTCCGATGAAGACACTCTGCATCCAGGTCCTGGGGTTGGCAGCAGTGGTGAGTGGTGGGAGAGGGAATGGA 52180480 52180650 52180560 52180561 52180561 exon 48 0.5 TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTTAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC mutant NA NA NA NA NA 24 159 0.95 0.9876104 0.9688052 0.9968264 0.9997596 0.9895487 0.9467741 NA NA -0.03954874 0.04083628 0.998293 0.9681614 NA 0.0006437687 NA FALSE NA 0 -3.419 . missense_variant MODERATE KRT80 HGNC 27056 ENST00000313234 4/9 1 deleterious(0) probably_damaging(0.999) NA TTA T,A 8.54e-06 12:52180561 KRT80 HGNC Symbol protein_coding 23004 ENSG00000167767 ENSE00001483454 missense_variant 4.830043 0.40466 0.08028 0.732398 0.9972411 0 5.430984e-05 FALSE 1.22686e-05 ENSE00001483454_017 ENSE00001483454 017 12 52574265 52574434 - 32 96 42 G T 52574364 1648 71 GCTTGGCAAGACACTGGCCCCATCTCACTCACCTGCTCATAGATGGTTTTCATCAACTCCACGAAGCTCTCCAGGCTTTTTAACTTGGTTTCCAGTTCATTCCGATGAAGACACTCTGCATCCAGGTCCTGGGGTTGGCAGCAGTGGTGAGTGGTGGGAGAGGGAATGGA 52180480 52180650 52180579 52180580 52180580 exon 29 0.3020833 TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGAATGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC TCCATTCCCTCTCCCACCACTCACCACTGCTGCCAACCCCAGGACCTGGATGCAGAGTGTCTTCATCGGACTGAACTGGAAACCAAGTTAAAAAGCCTGGAGAGCTTCGTGGAGTTGATGAAAACCATCTATGAGCAGGTGAGTGAGATGGGGCCAGTGTCTTGCCAAGC mutant NA NA NA NA NA 639 255 0.9961648 1 0.9980824 0.9968264 0.9997596 0.9895487 0.9467741 NA NA 0.006616044 0.05322586 0.998293 0.9681614 NA 0.02992095 NA FALSE NA 0.001 0.834 . missense_variant MODERATE KRT80 HGNC 27056 ENST00000313234 4/9 COSM1195695&COSM1195696 1 deleterious(0) probably_damaging(0.982) NA AGT G,T 0.0001263 12:52180580 KRT80 HGNC Symbol protein_coding 23004 ENSG00000167767 ENSE00001483454 missense_variant 5.306406 0.72607 0.26719 0.732398 0.9932275 0 5.430984e-05 FALSE 0.00010185 ENSE00001505837_020 ENSE00001505837 020 17 16330722 16330891 + 41 99 30 G T 16330836 797 115 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGTGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427521 16427522 16427522 exon -26 0.7474747 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGTGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 771 798 0.9986058 0.9905691 0.9945874 NA NA 0.9912223 0.9986907 NA NA 0.007383447 -0.008121615 NA 0.9949565 NA -0.0003690837 NA FALSE NA 1 2.19 rs189607687 upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 rs189607687 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 GGG G,T 8.236e-06 17:16427522 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 missense_variant 1.637588 0.89783 0.73282 0.67177 0.5217735 0 0.005629157 FALSE 1.62703e-05 ENSE00001505837_021 ENSE00001505837 021 17 16330722 16330891 + 41 99 30 G C 16330838 798 117 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGCGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427523 16427524 16427524 exon -24 0.7676768 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGCGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 64 592 1 0.9815678 0.9907839 NA NA 0.9912223 0.9986907 NA NA 0.008777668 -0.01712286 NA 0.9949565 NA -0.004172596 NA FALSE NA 1 5.459 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA GGG G,C 8.236e-06 17:16427524 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 missense_variant 5.055038 0.94344 0.9036 0.67177 0.8495843 0 0.005629157 FALSE 4.06931e-06 ENSE00001505837_025 ENSE00001505837 025 17 16330722 16330891 + 41 99 30 C T 16330850 802 129 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCTTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427535 16427536 16427536 exon -12 0.8888889 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCTTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 510 363 0.9902534 0.9830124 0.9866329 NA NA 0.9912223 0.9986907 NA NA -0.0009688838 -0.01567827 NA 0.9949565 NA -0.008323579 NA FALSE NA 0.992 0.535 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA CCT C,T 8.237e-06 17:16427536 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 missense_variant 0.788338 0.84862 0.43076 0.67177 0.909262 0 0.005629157 FALSE NA ENSE00001505837_026 ENSE00001505837 026 17 16330722 16330891 + 41 99 30 C T 16330852 803 131 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTTGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427537 16427538 16427538 exon -10 0.9090909 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTTGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 334 233 0.99535 0.9818009 0.9885755 NA NA 0.9912223 0.9986907 NA NA 0.004127632 -0.01688976 NA 0.9949565 NA -0.006381062 NA FALSE NA 0.001 -0.391 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 1 NA TCG C,T 4.118e-05 17:16427538 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 synonymous_variant 1.012402 0.27137 0.07675 0.67177 0.699188 0 0.005629157 FALSE 2.03947e-05 ENSE00001505837_027 ENSE00001505837 027 17 16330722 16330891 + 41 99 30 G A 16330853 804 132 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCATGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427538 16427539 16427539 exon -9 0.9191919 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCATGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 60 121 1 0.9600947 0.9800473 NA NA 0.9912223 0.9986907 NA NA 0.008777668 -0.038596 NA 0.9949565 NA -0.01490917 NA FALSE NA 0 -0.877 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 rs372298752 1 NA A:0 A:0.0001 CGT G,A 2.471e-05 17:16427539 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 missense_variant 0.024527 0.13766 0.03422 0.706298 0.6794577 0 0.005629157 FALSE 2.04182e-05 ENSE00001505837_028 ENSE00001505837 028 17 16330722 16330891 + 41 99 30 G A 16330856 805 135 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGAGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427541 16427542 16427542 exon -6 0.9494949 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGAGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 271 206 1 1 1 NA NA 0.9912223 0.9986907 NA NA 0.008777668 0.001309302 NA 0.9949565 NA 0.005043485 NA FALSE NA 0.988 2.192 . upstream_gene_variant MODIFIER TRPV2 HGNC 18082 ENST00000577865 rs375372214 1 NA A:0 A:0.0001 GGG G,A 8.237e-06 17:16427542 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 missense_variant 2.97447 0.94015 0.79888 0.706298 0.9337605 0 0.005629157 FALSE NA ENSE00001507234_002 ENSE00001507234 002 12 124414169 124414338 + 42 96 32 G A 124414193 3823 25 TGGTGGGTTTCAGTATAACTGAGCATGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929645 123929646 123929646 upstr_intron -18 -0.4047619 TGGTGGGTTTCAGTATAACTGAGCATGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 115 567 0.995625 0.9974129 0.9965189 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.02147647 0.08316548 0.9901102 0.9441979 NA 0.05232098 NA FALSE NA 0 -0.283 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 rs371607521 1 NA A:0 A:0.0001 CGT G,A 8.278e-06 12:123929646 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 3_prime_UTR_variant -0.043875 0.2399 0.02984 0.06567 0.5758671 0.0829792 0.3688496 FALSE NA ENSE00001507234_004 ENSE00001507234 004 12 124414169 124414338 + 42 96 32 T G 124414206 3825 38 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTGCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929658 123929659 123929659 upstr_intron -5 -0.0952381 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTGCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant 18 55 0 0 0 463 639 0.0072299 0.000791485 0.004010692 0.9965164 0.983704 0.9741485 0.9142474 -0.9965164 -0.983704 -0.9669186 -0.9134559 0.9901102 0.9441979 -0.9901102 -0.9401872 0.04992298 TRUE TRUE 0 -0.721 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 1 NA TTC T,G 6.622e-05 12:123929659 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 splice_region_variant -0.331479 0.25446 0.01932 0.06567 0.6727277 0.24126 0.3688496 FALSE 4.53287e-05 ENSE00001507234_005 ENSE00001507234 005 12 124414169 124414338 + 42 96 32 A G 124414217 3826 49 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCGTGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929669 123929670 123929670 exon 7 0.07291667 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCGTGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 444 1710 0.9961367 1 0.9980683 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.02198819 0.08575263 0.9901102 0.9441979 NA 0.05387041 NA FALSE NA 1 6.083 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 1 NA CAT A,G 1.655e-05 12:123929670 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 1.712146 0.98858 0.97586 0.446893 0.8746182 0 0.3688496 FALSE 8.17956e-06 ENSE00001507234_006 ENSE00001507234 006 12 124414169 124414338 + 42 96 32 G A 124414220 3827 52 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGAAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929672 123929673 123929673 exon 10 0.1041667 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGAAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant 13 25 0.85 0.85 0.85 522 1377 0.8189197 0.8644967 0.8417082 0.9965164 0.983704 0.9741485 0.9142474 -0.1465164 -0.133704 -0.1552288 -0.04975063 0.9901102 0.9441979 -0.1401102 -0.1024897 0.0376205 FALSE FALSE 1 7.71 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 1 NA GGA G,A 3.311e-05 12:123929673 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 2.8759 0.98956 0.97425 0.446893 0.9874761 0 0.3688496 FALSE 3.27156e-05 ENSE00001507234_008 ENSE00001507234 008 12 124414169 124414338 + 42 96 32 A G 124414232 3829 64 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACGCGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929684 123929685 123929685 exon 22 0.2291667 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACGCGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 16 32 1 1 1 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.02585149 0.08575263 0.9901102 0.9441979 NA 0.05580206 NA FALSE NA 1 9.089 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 1 NA CAC A,G 1.655e-05 12:123929685 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 3.978538 0.99406 0.9912 0.549168 0.9967212 0 0.3688496 FALSE 4.07947e-06 ENSE00001507234_011 ENSE00001507234 011 12 124414169 124414338 + 42 96 32 C T 124414242 3832 74 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAATGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929694 123929695 123929695 exon 32 0.3333333 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAATGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 2913 122 0.947714 0.9459932 0.9468536 0.9965164 0.983704 0.9741485 0.9142474 NA NA -0.0264345 0.03174581 0.9901102 0.9441979 NA 0.002655657 NA FALSE NA 0.998 3.816 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 COSM430650&COSM430651 1 NA ACG C,T 4.967e-05 12:123929695 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 4.129257 0.99109 0.96054 0.549168 0.996403 0 0.3688496 FALSE 3.26129e-05 ENSE00001507234_012 ENSE00001507234 012 12 124414169 124414338 + 42 96 32 G A 124414243 3833 75 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACAAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929695 123929696 123929696 exon 33 0.34375 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACAAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant 19 82 0.85 0.85 0.85 34 109 0.8 0.8374489 0.8187245 0.9965164 0.983704 0.9741485 0.9142474 -0.1465164 -0.133704 -0.1741485 -0.07679843 0.9901102 0.9441979 -0.1401102 -0.1254735 0.01463676 FALSE FALSE 0.001 -1.668 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 COSM202855&COSM202854 1 NA CGA G,A 2.483e-05 12:123929696 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 synonymous_variant 0.716161 0.77391 0.03644 0.549168 0.7987818 0 0.3688496 FALSE 1.22318e-05 ENSE00001507234_013 ENSE00001507234 013 12 124414169 124414338 + 42 96 32 C G 124414248 3834 80 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGGCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929700 123929701 123929701 exon 38 0.3958333 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGGCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant 21 39 0.85 0.85 0.85 593 293 0.7008397 0.8017233 0.7512815 0.9965164 0.983704 0.9741485 0.9142474 -0.1465164 -0.133704 -0.2733088 -0.1125241 0.9901102 0.9441979 -0.1401102 -0.1929164 0.05280618 FALSE FALSE 1 7.611 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 rs530825046 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GCC C,G 8.277e-06 12:123929701 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 5.590319 0.99539 0.98959 0.549168 0.9977898 0 0.3688496 FALSE 4.07511e-06 ENSE00001507234_014 ENSE00001507234 014 12 124414169 124414338 + 42 96 32 C T 124414253 3835 85 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCTAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929705 123929706 123929706 exon 43 0.4479167 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCTAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant 95 71 0.85 0.85 0.85 86 263 0.218072 0.1730146 0.1955433 0.9965164 0.983704 0.9741485 0.9142474 -0.1465164 -0.133704 -0.7560765 -0.7412327 0.9901102 0.9441979 -0.1401102 -0.7486546 0.6085444 TRUE FALSE 1 1.526 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 rs369076346 1 NA T:0.0003 T:0 CCA C,T 8.277e-06 12:123929706 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 stop_gained 13.93084 0.98035 0.83577 0.549168 0.9921941 0 0.3688496 FALSE 8.15082e-06 ENSE00001507234_015 ENSE00001507234 015 12 124414169 124414338 + 42 96 32 A G 124414257 3836 89 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCGACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929709 123929710 123929710 exon 47 0.4895833 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCGACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 406 273 0.9751402 0.9965081 0.9858242 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.0009917303 0.08226071 0.9901102 0.9441979 NA 0.04162622 NA FALSE NA 1 9.089 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 1 NA CAA A,G 8.278e-06 12:123929710 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 2.651914 0.99398 0.99057 0.549168 0.8979126 0 0.3688496 FALSE 4.07518e-06 ENSE00001507234_017 ENSE00001507234 017 12 124414169 124414338 + 42 96 32 C T 124414259 3838 91 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAATGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929711 123929712 123929712 exon -48 0.5104167 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAATGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 155 501 0.9938278 0.9981012 0.9959645 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.01967933 0.08385384 0.9901102 0.9441979 NA 0.05176659 NA FALSE NA 0.113 2.001 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 rs199800946&COSM1203949&COSM1203950 1 NA T:0 T:0.0002 ACG C,T 0.0001242 12:123929712 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 5.646664 0.38095 0.13295 0.549168 0.9982489 0 0.3688496 FALSE 0.000138584 ENSE00001507234_018 ENSE00001507234 018 12 124414169 124414338 + 42 96 32 G A 124414260 3839 92 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACAGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929712 123929713 123929713 exon -47 0.5208333 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACAGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 854 357 0.9985453 1 0.9992726 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.02439679 0.08575263 0.9901102 0.9441979 NA 0.05507471 NA FALSE NA 0.016 0.691 rs140635724 intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 rs140635724 1 A:0.0006 A:0 A:0.0014 NA A:0 A:0.002 A:0 A:0 A:0.0009 CGG G,A 0.0003146 12:123929713 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 0.400269 0.23902 0.03594 0.549168 0.8215119 0 0.3688496 FALSE 0.00036291 ENSE00001507234_019 ENSE00001507234 019 12 124414169 124414338 + 42 96 32 C T 124414275 3840 107 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCTGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929727 123929728 123929728 exon -32 0.6770833 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCTGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 671 178 0.8179079 1 0.9089539 0.9965164 0.983704 0.9741485 0.9142474 NA NA -0.1562406 0.08575263 0.9901102 0.9441979 NA -0.03524401 NA FALSE NA 1 7.611 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 1 NA CCG C,T 1.656e-05 12:123929728 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 7.793517 0.99532 0.98552 0.549168 0.9990774 0 0.3688496 FALSE 1.2273e-05 ENSE00001507234_020 ENSE00001507234 020 12 124414169 124414338 + 42 96 32 C T 124414282 3841 114 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGTAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929734 123929735 123929735 exon -25 0.75 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGTAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 886 751 0.8 0.8013452 0.8006726 0.9965164 0.983704 0.9741485 0.9142474 NA NA -0.1741485 -0.1129021 0.9901102 0.9441979 NA -0.1435253 NA FALSE NA 0.999 1.022 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 rs375474851 1 NA T:0 T:0.0001 GCA C,T 4.139e-05 12:123929735 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 synonymous_variant 1.61284 0.97284 0.78722 0.549168 0.8693211 0 0.3688496 FALSE 2.45773e-05 ENSE00001507234_021 ENSE00001507234 021 12 124414169 124414338 + 42 96 32 T C 124414299 3842 131 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAACTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929751 123929752 123929752 exon -8 0.9270833 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAACTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 343 260 0.9818948 0.9964079 0.9891513 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.007746317 0.0821605 0.9901102 0.9441979 NA 0.04495341 NA FALSE NA 1 6.034 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 1 NA ATT T,C 8.279e-05 12:123929752 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 missense_variant 5.327726 0.99328 0.97046 0.549168 0.9970668 0 0.3688496 FALSE 6.19804e-05 ENSE00001507234_022 ENSE00001507234 022 12 124414169 124414338 + 42 96 32 G A 124414313 3843 145 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGATGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929765 123929766 123929766 downstr_intron 7 1.225806 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGATGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 1601 550 0.9988455 0.9997123 0.9992789 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.02469695 0.08546497 0.9901102 0.9441979 NA 0.05508096 NA FALSE NA 0 -0.553 . intron_variant&non_coding_transcript_variant MODIFIER CCDC92 HGNC 29563 ENST00000544798 3/3 rs369722515 1 NA A:0 A:0.0001 GGT G,A 1.657e-05 12:123929766 CCDC92 HGNC Symbol protein_coding 54171 ENSG00000119242 ENSE00001507234 splice_region_variant 0.022036 0.2653 0.02735 0.06567 0.6813858 0.0607215 0.3688496 FALSE 1.2723e-05 ENSE00001543521_001 ENSE00001543521 001 18 8635486 8635655 + 45 90 35 A C 8635503 138 18 AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTGCAAAGATGGGCATCGCC 8635487 8635657 8635504 8635505 8635505 upstr_intron -28 -0.6 GGCGATGCCCATCTTTGCAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 83 165 0 0.1215671 0.06078355 NA NA NA NA NA 0.8441108 0.8271402 0.8617585 0.8641905 -0.8441108 -0.7055731 NA NA 0.8356255 0.8629745 -0.7748419 NA NA NA TRUE 0.038 0.177 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA GAA A,C 1.655e-05 18:8635505 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 non_coding_transcript_exon_variant 0.90165 0.92892 0.11329 0.295142 0.7968074 0.133159 NA NA 8.42659e-06 ENSE00001543521_006 ENSE00001543521 006 18 8635486 8635655 + 45 90 35 G A 8635572 143 87 AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAATTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635573 8635574 8635574 exon 42 0.4666667 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAATTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 91 129 0.85 0.85 0.85 36 25 0.8221515 0.8 0.8110757 0.8441108 0.8271402 0.8617585 0.8641905 0.00588917 0.02285984 -0.03960698 -0.06419049 0.8356255 0.8629745 0.01437451 -0.05189873 0.06627324 FALSE FALSE 1 4.21 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA AGT G,A 8.274e-06 18:8635574 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 synonymous_variant 2.40889 0.98629 0.96277 0.719381 0.8939019 0 NA NA 4.09356e-06 ENSE00001543521_009 ENSE00001543521 009 18 8635486 8635655 + 45 90 35 G A 8635587 146 102 AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCTGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635588 8635589 8635589 exon -34 0.6333333 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACAGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 439 107 0 0 0 NA NA NA NA NA 0.8441108 0.8271402 0.8617585 0.8641905 -0.8441108 -0.8271402 NA NA 0.8356255 0.8629745 -0.8356255 NA NA NA TRUE 0.911 -0.077 rs113631201 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 rs113631201 1 NA A:0 A:0.0001 CGG G,A 8.273e-06 18:8635589 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 synonymous_variant 2.040521 0.18868 0.49085 0.719381 0.7009582 0 NA NA NA ENSE00001543521_010 ENSE00001543521 010 18 8635486 8635655 + 45 90 35 G A 8635588 147 103 AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTTCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635589 8635590 8635590 exon -33 0.6444444 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGAACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 129 235 0.85 0.85 0.85 1042 73 0.8018541 0.8 0.800927 0.8441108 0.8271402 0.8617585 0.8641905 0.00588917 0.02285984 -0.05990438 -0.06419049 0.8356255 0.8629745 0.01437451 -0.06204743 0.07642194 FALSE FALSE 1 9.415 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA GGA G,A 2.482e-05 18:8635590 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 missense_variant 3.787353 0.99236 0.99258 0.719381 0.9977303 0 NA NA 3.2733e-05 ENSE00001543521_011 ENSE00001543521 011 18 8635486 8635655 + 45 90 35 C G 8635590 148 105 AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTCTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635591 8635592 8635592 exon -31 0.6666667 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGAGAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 112 115 0.85 0.85 0.85 NA NA NA NA NA 0.8441108 0.8271402 0.8617585 0.8641905 0.00588917 0.02285984 NA NA 0.8356255 0.8629745 0.01437451 NA NA NA FALSE 1 1.695 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA ACA C,G 1.655e-05 18:8635592 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 missense_variant 2.960828 0.98159 0.9458 0.719381 0.98958 0 NA NA 8.188e-06 ENSE00001543521_012 ENSE00001543521 012 18 8635486 8635655 + 45 90 35 A G 8635597 149 112 AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGACTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635598 8635599 8635599 exon -24 0.7444444 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAGTCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 173 272 0.85 0.85 0.85 NA NA NA NA NA 0.8441108 0.8271402 0.8617585 0.8641905 0.00588917 0.02285984 NA NA 0.8356255 0.8629745 0.01437451 NA NA NA FALSE 1 4.929 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA AAT A,G 8.273e-06 18:8635599 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 missense_variant 2.256598 0.98677 0.97423 0.719381 0.8583751 0 NA NA 4.09306e-06 ENSE00001543521_014 ENSE00001543521 014 18 8635486 8635655 + 45 90 35 A G 8635610 151 125 AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTTTTCCCCCCGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635611 8635612 8635612 exon -11 0.8888889 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCGGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant NA NA NA NA NA 66 168 0.8 0.8 0.8 0.8441108 0.8271402 0.8617585 0.8641905 NA NA -0.06175848 -0.06419049 0.8356255 0.8629745 NA -0.06297448 NA FALSE NA 1 8.905 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA CAG A,G 9.927e-05 18:8635612 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 missense_variant 2.204729 0.99415 0.99399 0.722319 0.8670438 0 NA NA 0.000102678 ENSE00001543521_015 ENSE00001543521 015 18 8635486 8635655 + 45 90 35 A G 8635618 152 133 AGTGTGTGGCAACCGTGCCTCCCACGCCCTCTCACCTCTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635619 8635620 8635620 exon -3 0.9777778 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAGAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant NA NA NA NA NA 1153 78 0.8 0.8 0.8 0.8441108 0.8271402 0.8617585 0.8641905 NA NA -0.06175848 -0.06419049 0.8356255 0.8629745 NA -0.06297448 NA FALSE NA 1 8.905 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA AAA A,G 1.654e-05 18:8635620 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 missense_variant 1.786853 0.98955 0.99084 0.722319 0.9934936 0 NA NA 4.10701e-06 ENSE00001543521_017 ENSE00001543521 017 18 8635486 8635655 + 45 90 35 G A 8635628 154 143 AGTGTGTGGCAACCGTGCCTCCCACGCTCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635629 8635630 8635630 downstr_intron 8 1.235294 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGAGCGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 44 80 0.217846 0.0751342 0.1464901 75 1066 0.7721553 0.8004743 0.7863148 0.8441108 0.8271402 0.8617585 0.8641905 -0.6262649 -0.752006 -0.08960315 -0.0637162 0.8356255 0.8629745 -0.6891354 -0.07665968 0.6124757 FALSE TRUE 0 -1.789 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA GGG G,A 8.273e-06 18:8635630 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 splice_region_variant 0.379033 0.07078 0.00536 0.099367 0.7729656 0.0542882 NA NA 4.23083e-06 ENSE00001543521_018 ENSE00001543521 018 18 8635486 8635655 + 45 90 35 C T 8635630 155 145 AGTGTGTGGCAACCGTGCCTCCCACACCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635631 8635632 8635632 downstr_intron 10 1.294118 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGTGTGGGAGGCACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 69 81 0.85 0.85 0.85 1295 388 0.8055428 0.8 0.8027714 0.8441108 0.8271402 0.8617585 0.8641905 0.00588917 0.02285984 -0.05621569 -0.06419049 0.8356255 0.8629745 0.01437451 -0.06020309 0.07457759 FALSE FALSE 0 -2.776 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 1 NA GCG C,T 8.272e-06 18:8635632 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 non_coding_transcript_exon_variant -0.973689 0.02798 0.00192 0.099367 0.6805556 0.046875 NA NA NA ENSE00001543521_019 ENSE00001543521 019 18 8635486 8635655 + 45 90 35 C T 8635639 156 154 AGTGTGTGGCAACCGTACCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635640 8635641 8635641 downstr_intron 19 1.558824 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGTACGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 47 74 0.85 0.85 0.85 219 677 0.95 0.9398972 0.9449486 0.8441108 0.8271402 0.8617585 0.8641905 0.00588917 0.02285984 0.08824152 0.07570673 0.8356255 0.8629745 0.01437451 0.08197413 0.06759962 FALSE FALSE 0 -0.549 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 rs372669182 1 NA T:0 T:0.0002 GCA C,T 4.137e-05 18:8635641 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 non_coding_transcript_exon_variant 0.422841 0.13451 0.00852 0.099367 0.6558094 0.046875 NA NA 3.9549e-05 ENSE00001543521_020 ENSE00001543521 020 18 8635486 8635655 + 45 90 35 C T 8635641 157 156 AGTGTGTGGCAACCATGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635642 8635643 8635643 downstr_intron 21 1.617647 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCATGGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant 237 251 0.85 0.85 0.85 NA NA NA NA NA 0.8441108 0.8271402 0.8617585 0.8641905 0.00588917 0.02285984 NA NA 0.8356255 0.8629745 0.01437451 NA NA NA FALSE 0 -3.039 rs147489143 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RP11-661O13.1 Clone_based_vega_gene NA ENST00000580267 2/2 rs147489143 1 T:0.0020 T:0.0076 T:0 NA T:0 T:0 T:0 T:0.0054 T:0 ACG C,T 0.0004551 18:8635643 AP001793.1 Clone-based (Ensembl) gene antisense 1168 ENSG00000266708 ENSE00001543521 non_coding_transcript_exon_variant 0.548115 0.2171 0.04555 0.099367 0.6470571 0.046875 NA NA 0.000387239 ENSE00001582750_001 ENSE00001582750 001 17 5271624 5271793 + 41 99 30 C T 5271643 521 20 CGATTTCCTAACTATGTTTTTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368347 5368348 5368348 upstr_intron -22 -0.5121951 CGATTTCCTAACTATGTTTTTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 1025 2150 0.9988018 0.9977198 0.9982608 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1162522 0.09991236 0.8647292 0.8901785 NA 0.1080823 NA FALSE NA 0 -0.778 . intron_variant MODIFIER RABEP1 HGNC 17677 ENST00000408982 11/17 1 NA TCT C,T 1.656e-05 17:5368348 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 intron_variant 0.206174 0.15306 0.04135 0.295142 0.7356661 0.0993196 0.9828151 TRUE 2.54619e-05 ENSE00001582750_002 ENSE00001582750 002 17 5271624 5271793 + 41 99 30 A T 5271647 522 24 CGATTTCCTAACTATGTTTCTATTCATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368351 5368352 5368352 upstr_intron -18 -0.4146341 CGATTTCCTAACTATGTTTCTATTCATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 7116 2362 0.9540114 0.9823155 0.9681635 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.07146182 0.08450808 0.8647292 0.8901785 NA 0.07798495 NA FALSE NA 0 -1.818 . intron_variant MODIFIER RABEP1 HGNC 17677 ENST00000408982 11/17 1 NA TAC A,T 2.483e-05 17:5368352 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 intron_variant -0.404297 0.11956 0.04081 0.295142 0.5835307 0.0993196 0.9828151 TRUE 1.25462e-05 ENSE00001582750_003 ENSE00001582750 003 17 5271624 5271793 + 41 99 30 G T 5271651 523 28 CGATTTCCTAACTATGTTTCTATACATTTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368355 5368356 5368356 upstr_intron -14 -0.3170732 CGATTTCCTAACTATGTTTCTATACATTTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant 13 34 0.9409955 0.9210154 0.9310055 NA NA NA NA NA 0.831927 0.8975315 0.8825496 0.8978075 0.1090686 0.02348392 NA NA 0.8647292 0.8901785 0.06627624 NA NA NA FALSE 0 -2.82 . intron_variant MODIFIER RABEP1 HGNC 17677 ENST00000408982 11/17 1 NA TGT G,T 8.278e-06 17:5368356 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 intron_variant -0.199574 0.15708 0.01099 0.295142 0.6692158 0.0993196 0.9828151 TRUE 4.20246e-06 ENSE00001582750_004 ENSE00001582750 004 17 5271624 5271793 + 41 99 30 T C 5271657 524 34 CGATTTCCTAACTATGTTTCTATACATGTGTTTCTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368361 5368362 5368362 upstr_intron -8 -0.1707317 CGATTTCCTAACTATGTTTCTATACATGTGTTTCTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 541 1278 0.9973846 0.997949 0.9976668 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.114835 0.1001415 0.8647292 0.8901785 NA 0.1074883 NA FALSE NA 0.215 1.644 . splice_region_variant&intron_variant LOW RABEP1 HGNC 17677 ENST00000408982 11/17 1 NA TTT T,C 8.278e-06 17:5368362 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 splice_region_variant -0.166783 0.31601 0.44351 0.295142 0.7491917 0.154621 0.9828151 TRUE 4.19699e-06 ENSE00001582750_005 ENSE00001582750 005 17 5271624 5271793 + 41 99 30 C T 5271672 525 49 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGTACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368376 5368377 5368377 exon 8 0.08080808 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGTACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 2109 605 0.9937453 0.9965292 0.9951373 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1111957 0.09872174 0.8647292 0.8901785 NA 0.1049587 NA FALSE NA 1 1.932 . missense_variant MODERATE RABEP1 HGNC 17677 ENST00000408982 12/18 1 tolerated(0.16) benign(0.006) NA GCA C,T 8.278e-06 17:5368377 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 missense_variant 3.350472 0.97407 0.81965 0.706548 0.9586883 0 0.9828151 TRUE 4.07266e-06 ENSE00001582750_006 ENSE00001582750 006 17 5271624 5271793 + 41 99 30 C T 5271676 526 53 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTTGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368380 5368381 5368381 exon 12 0.1212121 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTTGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 1277 3697 0.9939063 0.8827761 0.9383412 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1113567 -0.01503132 0.8647292 0.8901785 NA 0.04816268 NA FALSE NA 0.792 -0.302 . synonymous_variant LOW RABEP1 HGNC 17677 ENST00000408982 12/18 1 NA TCG C,T 1.656e-05 17:5368381 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 2.258455 0.29994 0.13608 0.706548 0.8363851 0 0.9828151 TRUE 1.22058e-05 ENSE00001582750_007 ENSE00001582750 007 17 5271624 5271793 + 41 99 30 G A 5271677 527 54 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCATCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368381 5368382 5368382 exon 13 0.1313131 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCATCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant 22 13 0.9548988 0.85 0.9024494 1377 4511 0.9105845 0.9869959 0.9487902 0.831927 0.8975315 0.8825496 0.8978075 0.1229719 -0.0475315 0.02803488 0.08918845 0.8647292 0.8901785 0.03772018 0.05861167 0.02089148 FALSE FALSE 0.972 3.46 . missense_variant MODERATE RABEP1 HGNC 17677 ENST00000408982 12/18 rs368640006 1 tolerated(0.41) benign(0.001) NA A:0.0003 A:0 CGT G,A 1.656e-05 17:5368382 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 missense_variant 3.124862 0.55174 0.60635 0.706548 0.9885272 0 0.9828151 TRUE 1.21991e-05 ENSE00001582750_010 ENSE00001582750 010 17 5271624 5271793 + 41 99 30 A G 5271682 530 59 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTGAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368386 5368387 5368387 exon 18 0.1818182 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTGAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 2474 3510 0.9969346 0.9885648 0.9927497 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.114385 0.09075735 0.8647292 0.8901785 NA 0.1025712 NA FALSE NA 0.721 -0.026 . synonymous_variant LOW RABEP1 HGNC 17677 ENST00000408982 12/18 1 NA TAA A,G 8.278e-06 17:5368387 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 0.556326 0.25745 0.17804 0.706548 0.6948788 0 0.9828151 TRUE 4.06415e-06 ENSE00001582750_011 ENSE00001582750 011 17 5271624 5271793 + 41 99 30 C T 5271688 531 65 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCTCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368392 5368393 5368393 exon 24 0.2424242 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCTCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant 11 10 0.9555291 0.9650896 0.9603094 NA NA NA NA NA 0.831927 0.8975315 0.8825496 0.8978075 0.1236022 0.06755813 NA NA 0.8647292 0.8901785 0.09558016 NA NA NA FALSE 0.379 -0.421 . synonymous_variant LOW RABEP1 HGNC 17677 ENST00000408982 12/18 1 NA CCC C,T 8.278e-06 17:5368393 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 2.336046 0.96628 0.2621 0.706548 0.8724731 0 0.9828151 TRUE 4.06184e-06 ENSE00001582750_012 ENSE00001582750 012 17 5271624 5271793 + 41 99 30 C T 5271697 532 74 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCTGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368401 5368402 5368402 exon 33 0.3333333 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCTGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 1634 1367 0.9985119 0.8865305 0.9425212 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1159623 -0.01127693 0.8647292 0.8901785 NA 0.0523427 NA FALSE NA 0 -3.186 . synonymous_variant LOW RABEP1 HGNC 17677 ENST00000408982 12/18 rs570395802 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 CCG C,T 0.000149 17:5368402 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 2.006748 0.28807 0.01602 0.706548 0.8416067 0 0.9828151 TRUE 0.000142153 ENSE00001582750_013 ENSE00001582750 013 17 5271624 5271793 + 41 99 30 G A 5271698 533 75 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCAAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368402 5368403 5368403 exon 34 0.3434343 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCAAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 1670 1634 0.8977388 0.9999767 0.9488578 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.01518925 0.1021692 0.8647292 0.8901785 NA 0.05867925 NA FALSE NA 1 8.572 . missense_variant MODERATE RABEP1 HGNC 17677 ENST00000408982 12/18 1 deleterious(0.01) possibly_damaging(0.799) NA CGA G,A 8.278e-06 17:5368403 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 missense_variant 7.197441 0.99187 0.98941 0.706548 0.9993654 0 0.9828151 TRUE 1.21846e-05 ENSE00001582750_014 ENSE00001582750 014 17 5271624 5271793 + 41 99 30 T C 5271704 534 81 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCCTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368408 5368409 5368409 exon 40 0.4040404 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCCTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 2093 1044 0.8518226 0.9961829 0.9240028 0.831927 0.8975315 0.8825496 0.8978075 NA NA -0.030727 0.09837545 0.8647292 0.8901785 NA 0.03382423 NA FALSE NA 0.955 1.784 . synonymous_variant LOW RABEP1 HGNC 17677 ENST00000408982 12/18 rs200720513 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 CTT T,C 0.0001076 17:5368409 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 0.275569 0.96997 0.73802 0.706548 0.7936809 0 0.9828151 TRUE 8.93503e-05 ENSE00001582750_015 ENSE00001582750 015 17 5271624 5271793 + 41 99 30 A G 5271706 535 83 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTGCTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368410 5368411 5368411 exon 42 0.4242424 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTGCTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant 39 38 0.9891883 0.9661045 0.9776464 1894 1388 0.9988866 0.996587 0.9977368 0.831927 0.8975315 0.8825496 0.8978075 0.1572613 0.06857298 0.116337 0.09877951 0.8647292 0.8901785 0.1129172 0.1075582 0.005358923 FALSE FALSE 1 1.821 . synonymous_variant LOW RABEP1 HGNC 17677 ENST00000408982 12/18 1 NA TAC A,G 8.278e-06 17:5368411 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 0.747556 0.96439 0.68628 0.706548 0.7657063 0 0.9828151 TRUE 4.06131e-06 ENSE00001582750_016 ENSE00001582750 016 17 5271624 5271793 + 41 99 30 G C 5271713 536 90 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAACAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368417 5368418 5368418 exon 49 0.4949495 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAACAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 2659 478 0.9990833 0.9923223 0.9957028 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1165337 0.09451485 0.8647292 0.8901785 NA 0.1055243 NA FALSE NA 1 5.251 . missense_variant MODERATE RABEP1 HGNC 17677 ENST00000408982 12/18 1 tolerated(0.13) benign(0.176) NA AGA G,C 8.277e-06 17:5368418 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 missense_variant 3.62908 0.98092 0.96331 0.706548 0.9949642 0 0.9828151 TRUE 4.06138e-06 ENSE00001582750_017 ENSE00001582750 017 17 5271624 5271793 + 41 99 30 G A 5271721 537 98 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAACAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368425 5368426 5368426 exon -43 0.5757576 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAACAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 1210 2395 0.998388 0.999108 0.998748 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1158384 0.1013006 0.8647292 0.8901785 NA 0.1085695 NA FALSE NA 0.711 -0.138 . synonymous_variant LOW RABEP1 HGNC 17677 ENST00000408982 12/18 1 NA AGC G,A 8.277e-06 17:5368426 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 0.066466 0.83645 0.34907 0.706548 0.7731688 0 0.9828151 TRUE 4.06134e-06 ENSE00001582750_018 ENSE00001582750 018 17 5271624 5271793 + 41 99 30 G A 5271746 538 123 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGAATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368450 5368451 5368451 exon -18 0.8282828 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGAATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 1641 4246 0.9957122 0.988056 0.9918841 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1131626 0.09024851 0.8647292 0.8901785 NA 0.1017055 NA FALSE NA 1 5.348 . missense_variant MODERATE RABEP1 HGNC 17677 ENST00000408982 12/18 1 tolerated(0.82) benign(0.001) NA GGA G,A 8.277e-06 17:5368451 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 missense_variant 2.632155 0.98338 0.80775 0.706548 0.8920857 0 0.9828151 TRUE 1.2185e-05 ENSE00001582750_019 ENSE00001582750 019 17 5271624 5271793 + 41 99 30 T C 5271748 539 125 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGACGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368452 5368453 5368453 exon -16 0.8484848 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGACGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant 52 102 0 0 0 2826 2597 0.9609005 0.9989945 0.9799475 0.831927 0.8975315 0.8825496 0.8978075 -0.831927 -0.8975315 0.07835095 0.1011871 0.8647292 0.8901785 -0.8647292 0.089769 0.9544982 FALSE TRUE 1 0.557 . synonymous_variant LOW RABEP1 HGNC 17677 ENST00000408982 12/18 rs375335078 1 NA C:0.0003 C:0 ATG T,C 8.277e-06 17:5368453 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 0.33949 0.96761 0.74514 0.706548 0.8485774 0 0.9828151 TRUE 8.12433e-06 ENSE00001582750_022 ENSE00001582750 022 17 5271624 5271793 + 41 99 30 C T 5271773 542 150 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTATATTTTAAGTAAATGACAACT 5368328 5368498 5368477 5368478 5368478 downstr_intron 10 1.344828 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTATATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant 31 86 0 0 0 1351 1632 0.9447201 0.8656231 0.9051716 0.831927 0.8975315 0.8825496 0.8978075 -0.831927 -0.8975315 0.06217046 -0.03218441 0.8647292 0.8901785 -0.8647292 0.01499302 0.8797223 FALSE TRUE 0 -1.249 . intron_variant MODIFIER RABEP1 HGNC 17677 ENST00000408982 12/17 rs376677975 1 NA T:0 T:0.0001 ACA C,T 2.483e-05 17:5368478 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 intron_variant 0.294269 0.12553 0.01545 0.099367 0.5745136 0.234609 0.9828151 TRUE 1.63895e-05 ENSE00001582750_023 ENSE00001582750 023 17 5271624 5271793 + 41 99 30 T G 5271778 543 155 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTGAAGTAAATGACAACT 5368328 5368498 5368482 5368483 5368483 downstr_intron 15 1.517241 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTGAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 360 1212 1 1 1 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1174504 0.1021925 0.8647292 0.8901785 NA 0.1098215 NA FALSE NA 0.14 0.302 . intron_variant MODIFIER RABEP1 HGNC 17677 ENST00000408982 12/17 1 NA TTA T,G 2.483e-05 17:5368483 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 intron_variant 0.173208 0.17669 0.06077 0.099367 0.7623347 0.158422 0.9828151 TRUE 4.10122e-05 ENSE00001591839_003 ENSE00001591839 003 12 53859647 53859816 + 69 42 59 G A 53859677 1877 31 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTAATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 53465892 53465893 53465893 upstr_intron -39 -0.5507246 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTAATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 454 716 0.943204 0.9645156 0.9538598 0.85 0.8213662 0.9219256 0.9346209 NA NA 0.02127848 0.02989465 0.8356831 0.9282732 NA 0.02558657 NA FALSE NA 1 2.231 . intron_variant&NMD_transcript_variant MODIFIER PCBP2 HGNC 8648 ENST00000550585 5/10 1 NA TGA G,A 8.237e-06 12:53465893 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 intron_variant 1.912637 0.95913 0.91989 0.298561 0.910378 0.981034 0.9870303 TRUE 4.14735e-06 ENSE00001591839_004 ENSE00001591839 004 12 53859647 53859816 + 69 42 59 A T 53859678 1878 32 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGTTTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 53465893 53465894 53465894 upstr_intron -38 -0.5362319 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGTTTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 282 1089 0.9495047 0.9243922 0.9369484 0.85 0.8213662 0.9219256 0.9346209 NA NA 0.02757917 -0.01022874 0.8356831 0.9282732 NA 0.008675214 NA FALSE NA 1 2.673 . intron_variant&NMD_transcript_variant MODIFIER PCBP2 HGNC 8648 ENST00000550585 5/10 1 NA GAT A,T 8.237e-06 12:53465894 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 intron_variant 1.760966 0.95873 0.85643 0.298561 0.9192735 0.965585 0.9870303 TRUE 4.14759e-06 ENSE00001591839_005 ENSE00001591839 005 12 53859647 53859816 + 69 42 59 G A 53859682 1879 36 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGATTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 53465897 53465898 53465898 upstr_intron -34 -0.4782609 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGATTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 305 70 0.9552773 0.8395916 0.8974344 0.85 0.8213662 0.9219256 0.9346209 NA NA 0.03335176 -0.09502934 0.8356831 0.9282732 NA -0.03083879 NA FALSE NA 1 2.744 . intron_variant&NMD_transcript_variant MODIFIER PCBP2 HGNC 8648 ENST00000550585 5/10 1 NA GGT G,A 8.236e-06 12:53465898 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 intron_variant 1.932616 0.96253 0.88892 0.298561 0.8993028 0.981973 0.9870303 TRUE 4.12531e-06 ENSE00001591839_008 ENSE00001591839 008 12 53859647 53859816 + 69 42 59 T G 53859708 1882 62 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCGTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 53465923 53465924 53465924 upstr_intron -8 -0.1014493 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCGTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 40 35 0.8 0.8 0.8 0.85 0.8213662 0.9219256 0.9346209 NA NA -0.1219256 -0.1346209 0.8356831 0.9282732 NA -0.1282732 NA FALSE NA 1 5.725 . splice_region_variant&intron_variant&NMD_transcript_variant LOW PCBP2 HGNC 8648 ENST00000550585 5/10 1 NA CTT T,G 8.236e-06 12:53465924 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 splice_region_variant 1.02412 0.96584 0.98925 0.298561 0.8919836 0.970775 0.9870303 TRUE 4.08427e-06 ENSE00001591839_009 ENSE00001591839 009 12 53859647 53859816 + 69 42 59 T C 53859709 1883 63 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTCTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 53465924 53465925 53465925 upstr_intron -7 -0.08695652 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTCTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant 75 84 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8213662 0.9219256 0.9346209 1.110223e-16 0.02863377 NA NA 0.8356831 0.9282732 0.01431689 NA NA NA FALSE 1 1.237 . splice_region_variant&intron_variant&NMD_transcript_variant LOW PCBP2 HGNC 8648 ENST00000550585 5/10 1 NA TTT T,C 2.471e-05 12:53465925 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 splice_region_variant 0.523163 0.94275 0.89346 0.298561 0.8541573 0.485675 0.9870303 TRUE 2.04157e-05 ENSE00001591839_016 ENSE00001591839 016 12 53859647 53859816 + 69 42 59 C T 53859797 1890 151 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTTTCCCATCCAAAATTGTCTC 53465862 53466032 53466012 53466013 53466013 downstr_intron 40 1.689655 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTTTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 840 666 0.9575722 0.9195982 0.9385852 0.85 0.8213662 0.9219256 0.9346209 NA NA 0.03564662 -0.01502272 0.8356831 0.9282732 NA 0.01031195 NA FALSE NA 0 -0.339 . intron_variant&NMD_transcript_variant MODIFIER PCBP2 HGNC 8648 ENST00000550585 6/10 1 NA TCT C,T 8.236e-06 12:53466013 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 intron_variant 1.453438 0.90337 0.31816 0.0869 0.5615892 0.259354 0.9870303 TRUE 4.06273e-06 ENSE00001591839_017 ENSE00001591839 017 12 53859647 53859816 + 69 42 59 T A 53859798 1891 152 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCACCCATCCAAAATTGTCTC 53465862 53466032 53466013 53466014 53466014 downstr_intron 41 1.706897 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCACCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 263 386 0.9469023 0.9374673 0.9421848 0.85 0.8213662 0.9219256 0.9346209 NA NA 0.02497678 0.002846378 0.8356831 0.9282732 NA 0.01391158 NA FALSE NA 0.001 0.268 . intron_variant&NMD_transcript_variant MODIFIER PCBP2 HGNC 8648 ENST00000550585 6/10 1 NA CTC T,A 8.236e-06 12:53466014 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 intron_variant 1.773574 0.91344 0.59094 0.0869 0.8629437 0.259354 0.9870303 TRUE 4.06293e-06 ENSE00001591839_018 ENSE00001591839 018 12 53859647 53859816 + 69 42 59 C T 53859799 1892 153 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTTCCATCCAAAATTGTCTC 53465862 53466032 53466014 53466015 53466015 downstr_intron 42 1.724138 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTTCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 275 321 0.958983 0.9788072 0.9688951 0.85 0.8213662 0.9219256 0.9346209 NA NA 0.03705747 0.04418626 0.8356831 0.9282732 NA 0.04062187 NA FALSE NA 0.001 0.734 . intron_variant&NMD_transcript_variant MODIFIER PCBP2 HGNC 8648 ENST00000550585 6/10 1 NA TCC C,T 8.236e-06 12:53466015 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 intron_variant 1.732754 0.90659 0.4153 0.0869 0.7905125 0.754431 0.9870303 TRUE 4.06319e-06 ENSE00001591839_019 ENSE00001591839 019 12 53859647 53859816 + 69 42 59 C T 53859801 1893 155 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCTATCCAAAATTGTCTC 53465862 53466032 53466016 53466017 53466017 downstr_intron 44 1.758621 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCTATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 110 53 0.9492838 0.9750905 0.9621872 0.85 0.8213662 0.9219256 0.9346209 NA NA 0.02735825 0.04046964 0.8356831 0.9282732 NA 0.03391395 NA FALSE NA 0.002 2.134 . intron_variant&NMD_transcript_variant MODIFIER PCBP2 HGNC 8648 ENST00000550585 6/10 1 NA CCA C,T 8.236e-06 12:53466017 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 intron_variant 1.840398 0.9532 0.76639 0.075938 0.8065417 0.807287 0.9870303 TRUE 4.06379e-06 ENSE00001606314_001 ENSE00001606314 001 12 22012481 22012650 - 39 81 50 C G 22012509 773 142 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATCGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859574 21859575 21859575 downstr_intron 11 1.289474 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATCGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 1648 1201 0.9985803 0.9999683 0.9992743 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.06324653 0.05679255 0.9867687 0.9392548 NA 0.06001954 NA FALSE NA 0 -2.15 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA CCA C,G 4.118e-05 12:21859575 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 intron_variant 1.406958 0.16726 0.02421 0.061011 0.6696183 0.163561 NA NA 3.65889e-05 ENSE00001606314_002 ENSE00001606314 002 12 22012481 22012650 - 39 81 50 T C 22012511 774 140 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATGTGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859576 21859577 21859577 downstr_intron 9 1.236842 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATGTGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 913 206 0.9910822 0.9742478 0.982665 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.05574842 0.03107201 0.9867687 0.9392548 NA 0.04341021 NA FALSE NA 0 0.153 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA ATA T,C 8.236e-06 12:21859577 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 intron_variant 1.675603 0.201 0.06646 0.061011 0.7842291 0.178404 NA NA 4.06468e-06 ENSE00001606314_003 ENSE00001606314 003 12 22012481 22012650 - 39 81 50 A G 22012512 775 139 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAACATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859577 21859578 21859578 downstr_intron 8 1.210526 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAACATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 2486 687 0.9935562 0.9989405 0.9962484 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.05822246 0.05576473 0.9867687 0.9392548 NA 0.0569936 NA FALSE NA 0 -0.336 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA TAT A,G 8.236e-06 12:21859578 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 splice_region_variant 0.80904 0.13792 0.02232 0.061011 0.749911 0.178404 NA NA 4.06491e-06 ENSE00001606314_004 ENSE00001606314 004 12 22012481 22012650 - 39 81 50 A G 22012525 776 126 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCCTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859590 21859591 21859591 exon -6 0.9382716 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCCTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 844 947 0.9870986 0.9945557 0.9908271 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.05176485 0.05137991 0.9867687 0.9392548 NA 0.05157238 NA FALSE NA 1 7.171 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 rs367776754 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 AAG A,G 2.471e-05 12:21859591 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 missense_variant 2.908412 0.99294 0.98014 0.487112 0.8993275 0 NA NA 8.12711e-06 ENSE00001606314_005 ENSE00001606314 005 12 22012481 22012650 - 39 81 50 G T 22012526 777 125 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTATTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859591 21859592 21859592 exon -7 0.9259259 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTATTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 18 26 0.9960539 0.996382 0.996218 2309 2212 0.9969174 0.9889118 0.9929146 0.9844107 0.9891268 0.9353338 0.9431758 0.0116432 0.00725527 0.06158368 0.04573602 0.9867687 0.9392548 0.009449236 0.05365985 0.04421062 FALSE FALSE 1 2.483 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 COSM1360711&COSM1360712 1 NA AGA G,T 8.236e-06 12:21859592 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 synonymous_variant 1.112248 0.98385 0.92712 0.487112 0.8706163 0 NA NA NA ENSE00001606314_006 ENSE00001606314 006 12 22012481 22012650 - 39 81 50 G A 22012538 778 113 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAATACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859603 21859604 21859604 exon -19 0.7777778 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAATACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 835 340 0.9967517 0.9958659 0.9963088 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.06141796 0.05269016 0.9867687 0.9392548 NA 0.05705406 NA FALSE NA 1 1.524 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA TGT G,A 8.236e-06 12:21859604 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 synonymous_variant 0.720004 0.98331 0.86447 0.487112 0.8830775 0 NA NA 4.06329e-06 ENSE00001606314_009 ENSE00001606314 009 12 22012481 22012650 - 39 81 50 C T 22012554 781 97 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACAAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859619 21859620 21859620 exon -35 0.5802469 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACAAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 12 45 0.85 0.9104119 0.8802059 1278 288 0.9849489 0.9732781 0.9791135 0.9844107 0.9891268 0.9353338 0.9431758 -0.1344107 -0.07871491 0.04961509 0.03010231 0.9867687 0.9392548 -0.1065628 0.0398587 0.1464215 FALSE FALSE 1 7.64 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA TCG C,T 8.236e-06 12:21859620 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 missense_variant 7.759227 0.99464 0.98252 0.487112 0.9996044 0 NA NA 4.06312e-06 ENSE00001606314_010 ENSE00001606314 010 12 22012481 22012650 - 39 81 50 G T 22012555 782 96 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCAAGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859620 21859621 21859621 exon -36 0.5679012 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCAAGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 1638 1149 0.9893556 0.9395585 0.9644571 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.05402184 -0.003617207 0.9867687 0.9392548 NA 0.02520232 NA FALSE NA 1 4.692 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA CGT G,T 6.589e-05 12:21859621 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 synonymous_variant 1.472195 0.98202 0.92869 0.487112 0.8156004 0 NA NA 4.87619e-05 ENSE00001606314_011 ENSE00001606314 011 12 22012481 22012650 - 39 81 50 A G 22012560 783 91 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGCGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859625 21859626 21859626 exon -41 0.5061728 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGCGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 703 1121 1 0.9973397 0.9986699 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.06466624 0.05416399 0.9867687 0.9392548 NA 0.05941511 NA FALSE NA 1 9.127 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA CAC A,G 8.236e-06 12:21859626 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 missense_variant 5.808184 0.99294 0.98873 0.487112 0.9985632 0 NA NA 4.06256e-06 ENSE00001606314_012 ENSE00001606314 012 12 22012481 22012650 - 39 81 50 A T 22012564 784 87 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCAGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859629 21859630 21859630 exon 37 0.4567901 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCAGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 877 1306 0.9829766 0.9982846 0.9906306 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.04764289 0.05510882 0.9867687 0.9392548 NA 0.05137586 NA FALSE NA 1 7.124 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA CAG A,T 8.236e-06 12:21859630 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 missense_variant 0.480908 0.98742 0.96379 0.487112 0.9092859 0 NA NA 4.06276e-06 ENSE00001606314_013 ENSE00001606314 013 12 22012481 22012650 - 39 81 50 G A 22012565 785 86 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATTTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859630 21859631 21859631 exon 36 0.4444444 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATTTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 22 12 0.85 0.85 0.85 2012 326 0.9853691 0.9647725 0.9750708 0.9844107 0.9891268 0.9353338 0.9431758 -0.1344107 -0.1391268 0.05003536 0.02159674 0.9867687 0.9392548 -0.1367687 0.03581605 0.1725848 FALSE FALSE 1 4.658 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA AGA G,A 8.236e-06 12:21859631 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 synonymous_variant 1.382908 0.9948 0.97119 0.487112 0.8993505 0 NA NA 4.06309e-06 ENSE00001606314_014 ENSE00001606314 014 12 22012481 22012650 - 39 81 50 T C 22012570 786 81 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGGGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859635 21859636 21859636 exon 31 0.382716 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGGGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 51 126 0.8905208 0.7388757 0.8146982 484 2551 0.7836812 0.8068902 0.7952857 0.9844107 0.9891268 0.9353338 0.9431758 -0.09388992 -0.2502511 -0.1516526 -0.1362856 0.9867687 0.9392548 -0.1720705 -0.1439691 0.02810146 FALSE FALSE 1 3.101 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA CTC T,C 8.236e-06 12:21859636 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 missense_variant 5.648685 0.97776 0.91982 0.487112 0.9988459 0 NA NA 4.06283e-06 ENSE00001606314_015 ENSE00001606314 015 12 22012481 22012650 - 39 81 50 C A 22012582 787 69 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGTGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859647 21859648 21859648 exon 19 0.2345679 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGTGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 26 97 0.9984063 0.9938892 0.9961478 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.06307258 0.05071347 0.9867687 0.9392548 NA 0.05689303 NA FALSE NA 1 7.64 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 rs267603423 1 NA CCC C,A 1.647e-05 12:21859648 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 stop_gained 14.60418 0.99488 0.9863 0.487112 0.9942306 0 NA NA 8.12651e-06 ENSE00001606314_016 ENSE00001606314 016 12 22012481 22012650 - 39 81 50 C T 22012583 788 68 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGAGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859648 21859649 21859649 exon 18 0.2222222 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGAGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 972 1431 0.8854347 0.9120971 0.8987659 0.9844107 0.9891268 0.9353338 0.9431758 NA NA -0.04989903 -0.03107863 0.9867687 0.9392548 NA -0.04048883 NA FALSE NA 0.266 -0.285 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA CCC C,T 8.236e-06 12:21859649 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 synonymous_variant 1.910063 0.96465 0.25479 0.487112 0.8586581 0 NA NA 4.06316e-06 ENSE00001606314_017 ENSE00001606314 017 12 22012481 22012650 - 39 81 50 C A 22012601 789 50 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTATGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859666 21859667 21859667 upstr_intron -1 0 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTATGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 152 49 0 0 0 1327 111 0.116959 0.01685524 0.06690712 0.9844107 0.9891268 0.9353338 0.9431758 -0.9844107 -0.9891268 -0.8183748 -0.9263205 0.9867687 0.9392548 -0.9867687 -0.8723476 0.1144211 TRUE TRUE 1 7.64 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA CCT C,A 8.237e-06 12:21859667 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 splice_acceptor_variant 5.202701 0.99488 0.9863 0.061011 0.99472 0.986398 NA NA NA ENSE00001606314_018 ENSE00001606314 018 12 22012481 22012650 - 39 81 50 C T 22012613 790 38 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTATCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859678 21859679 21859679 upstr_intron -13 -0.24 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTATCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 603 591 0.8242918 0.9967139 0.9105029 0.9844107 0.9891268 0.9353338 0.9431758 NA NA -0.1110419 0.05353815 0.9867687 0.9392548 NA -0.02875188 NA FALSE NA 0.375 -0.383 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 rs397517188 1 NA ACA C,T 8.237e-06 12:21859679 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 intron_variant 1.385806 0.53739 0.04238 0.061011 0.8753989 0.0443366 NA NA 4.06484e-06 ENSE00001606314_021 ENSE00001606314 021 12 22012481 22012650 - 39 81 50 A G 22012621 793 30 ATCATTTACTAATATTAAAAAATGGGTATCTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859686 21859687 21859687 upstr_intron -21 -0.4 ATCATTTACTAATATTAAAAAATGGGTATCTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 851 1472 0.9401495 0.9987196 0.9694346 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.004815736 0.05554386 0.9867687 0.9392548 NA 0.0301798 NA FALSE NA 0.852 4.981 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA AAA A,G 8.237e-06 12:21859687 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 intron_variant 0.995963 0.31012 0.56178 0.061011 0.7441567 0.0443366 NA NA 4.06514e-06 ENSE00001606314_022 ENSE00001606314 022 12 22012481 22012650 - 39 81 50 C A 22012625 794 26 ATCATTTACTAATATTAAAAAATGGTTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859690 21859691 21859691 upstr_intron -25 -0.48 ATCATTTACTAATATTAAAAAATGGTTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant NA NA NA NA NA 568 452 1 0.9999158 0.9999579 0.9844107 0.9891268 0.9353338 0.9431758 NA NA 0.06466624 0.05674 0.9867687 0.9392548 NA 0.06070312 NA FALSE NA 0 -2.32 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA ACC C,A 8.237e-06 12:21859691 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 intron_variant 0.354954 0.10131 0.02517 0.061011 0.8362397 0.0443366 NA NA 4.06593e-06 ENSE00001606314_023 ENSE00001606314 023 12 22012481 22012650 - 39 81 50 C A 22012626 795 25 ATCATTTACTAATATTAAAAAATGTGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859691 21859692 21859692 upstr_intron -26 -0.5 ATCATTTACTAATATTAAAAAATGTGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 15 30 0.7764 0.9259332 0.8511666 1027 3934 0.9877557 0.9994063 0.993581 0.9844107 0.9891268 0.9353338 0.9431758 -0.2080107 -0.06319359 0.05242193 0.05623055 0.9867687 0.9392548 -0.1356021 0.05432624 0.1899284 FALSE FALSE 0 -1.814 . intron_variant&non_coding_transcript_variant MODIFIER RP11-729I10.2 Clone_based_vega_gene NA ENST00000539874 2/3 1 NA CCC C,A 8.237e-06 12:21859692 AC008250.1 Clone-based (Ensembl) gene antisense 60747 ENSG00000257022 ENSE00001606314 intron_variant 0.68436 0.16935 0.02444 0.061011 0.7178041 0.0443366 NA NA 4.0662e-06 ENSE00001608767_001 ENSE00001608767 001 10 75602178 75602347 - 38 84 48 C T 75602195 1734 153 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTACCAGCCTCCTTGACATC 73842419 73842589 73842436 73842437 73842437 downstr_intron 21 1.567568 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTACCAGCCTCCTTGACATC CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC mutant NA NA NA NA NA 349 1157 1 0.998271 0.9991355 0.9868849 0.948625 0.9863655 0.9989712 NA NA 0.0136345 -0.0007001895 0.9677549 0.9926684 NA 0.006467153 NA FALSE NA 0 -2.886 . intron_variant MODIFIER CAMK2G HGNC 1463 ENST00000322680 11/20 1 NA GCA C,T 8.236e-06 10:73842437 CAMK2G HGNC Symbol protein_coding 62090 ENSG00000148660 ENSE00003676789 intron_variant 1.634239 0.11625 0.04825 0.160901 0.8473287 0.0766133 0.9945061 TRUE 4.06197e-06 ENSE00001608767_004 ENSE00001608767 004 10 75602178 75602347 - 38 84 48 C A 75602209 1737 139 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTTTCGTTTCTAGGCTGCCAGCCTCCTTGACATC 73842419 73842589 73842450 73842451 73842451 downstr_intron 7 1.189189 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTTTCGTTTCTAGGCTGCCAGCCTCCTTGACATC CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC mutant NA NA NA NA NA 1992 557 0.9986682 1 0.9993341 0.9868849 0.948625 0.9863655 0.9989712 NA NA 0.01230267 0.001028783 0.9677549 0.9926684 NA 0.006665729 NA FALSE NA 0.011 -0.174 . splice_region_variant&intron_variant LOW CAMK2G HGNC 1463 ENST00000322680 11/20 1 NA ACA C,A 8.236e-06 10:73842451 CAMK2G HGNC Symbol protein_coding 62090 ENSG00000148660 ENSE00003676789 splice_region_variant 0.760913 0.2398 0.0204 0.160901 0.8147251 0.112573 0.9945061 TRUE 8.12196e-06 ENSE00001608767_005 ENSE00001608767 005 10 75602178 75602347 - 38 84 48 A T 75602238 1738 110 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTACAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC 73842419 73842589 73842479 73842480 73842480 exon -23 0.7380952 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTACAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC mutant NA NA NA NA NA 504 392 1 0.9995963 0.9997982 0.9868849 0.948625 0.9863655 0.9989712 NA NA 0.0136345 0.0006251199 0.9677549 0.9926684 NA 0.007129808 NA FALSE NA 1 9.333 . missense_variant MODERATE CAMK2G HGNC 1463 ENST00000322680 11/21 1 deleterious_low_confidence(0) probably_damaging(0.988) NA GAA A,T 8.236e-06 10:73842480 CAMK2G HGNC Symbol protein_coding 62090 ENSG00000148660 ENSE00003676789 missense_variant 6.485855 0.99372 0.99853 0.706548 0.9953251 0 0.9945061 TRUE 4.06081e-06 ENSE00001608767_006 ENSE00001608767 006 10 75602178 75602347 - 38 84 48 C G 75602263 1739 85 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGCAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC 73842419 73842589 73842504 73842505 73842505 exon 37 0.4404762 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGCAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC mutant NA NA NA NA NA 319 231 1 0.9979982 0.9989991 0.9868849 0.948625 0.9863655 0.9989712 NA NA 0.0136345 -0.0009730253 0.9677549 0.9926684 NA 0.006330736 NA FALSE NA 1 7.812 . missense_variant MODERATE CAMK2G HGNC 1463 ENST00000322680 11/21 1 deleterious_low_confidence(0.01) probably_damaging(0.99) NA TCC C,G 8.236e-06 10:73842505 CAMK2G HGNC Symbol protein_coding 62090 ENSG00000148660 ENSE00003676789 missense_variant 6.27213 0.99281 0.99436 0.706548 0.9984479 0 0.9945061 TRUE 4.06101e-06 ENSE00001608767_009 ENSE00001608767 009 10 75602178 75602347 - 38 84 48 G A 75602289 1742 59 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCATGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC 73842419 73842589 73842530 73842531 73842531 exon 11 0.1309524 CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCATGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC CGCAGAGGATCTGGGCTGGGGCTCATAGCCTGTCTGTTTGGTTTCTAGCAACGATCCACGGTGGCATCCATGATGCATCGTCAGGAGACTGTGGAGTGTTTGCGCAAGTTCAATGCCCGGAGAAAACTGAAGGTGAGTGTCGTTTCTAGGCTGCCAGCCTCCTTGACATC mutant NA NA NA NA NA 143 258 1 1 1 0.9868849 0.948625 0.9863655 0.9989712 NA NA 0.0136345 0.001028783 0.9677549 0.9926684 NA 0.00733164 NA FALSE NA 1 9.873 . missense_variant MODERATE CAMK2G HGNC 1463 ENST00000322680 11/21 1 deleterious_low_confidence(0.01) probably_damaging(0.997) NA CGT G,A 8.236e-06 10:73842531 CAMK2G HGNC Symbol protein_coding 62090 ENSG00000148660 ENSE00003676789 missense_variant 6.186949 0.99555 0.99639 0.706548 0.9992965 0 0.9945061 TRUE 4.06276e-06 ENSE00001609036_011 ENSE00001609036 011 16 15170382 15170551 - 33 93 44 G C 15170434 1002 118 TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCAGGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 15076576 15076577 15076577 exon -20 0.7956989 TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCAGGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG mutant NA NA NA NA NA 118 674 0.8 0.8165339 0.8082669 NA NA 0.9873663 0.9856251 NA NA -0.1873663 -0.1690912 NA 0.9864957 NA -0.1782288 NA FALSE NA 0.011 1.395 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RRN3 HGNC 30346 ENST00000561685 3/4 1 NA CGT .,C 8.236e-06 16:15076577 RRN3 HGNC Symbol protein_coding 34295 ENSG00000085721 ENSE00003544685 missense_variant 2.181661 0.23552 0.12782 0.706548 0.9508495 0 0.0004745804 FALSE 1.21981e-05 ENSE00001609036_012 ENSE00001609036 012 16 15170382 15170551 - 33 93 44 G A 15170436 1003 116 TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCTACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 15076578 15076579 15076579 exon -22 0.7741935 TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCTACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG mutant NA NA NA NA NA 313 366 1 0.9908155 0.9954077 NA NA 0.9873663 0.9856251 NA NA 0.01263367 0.005190395 NA 0.9864957 NA 0.008912032 NA FALSE NA 0.296 0.631 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RRN3 HGNC 30346 ENST00000561685 3/4 rs559157413 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 TGG .,A 8.236e-06 16:15076579 RRN3 HGNC Symbol protein_coding 34295 ENSG00000085721 ENSE00003544685 synonymous_variant 1.409488 0.16228 0.0869 0.706548 0.8628147 0 0.0004745804 FALSE 1.62639e-05 ENSE00001609036_019 ENSE00001609036 019 16 15170382 15170551 - 33 93 44 T C 15170468 1010 84 TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAGCAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 15076610 15076611 15076611 exon 40 0.4301075 TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAGCAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG mutant NA NA NA NA NA 147 130 0.9660086 0.9997067 0.9828576 NA NA 0.9873663 0.9856251 NA NA -0.02135775 0.01408165 NA 0.9864957 NA -0.00363805 NA FALSE NA 0 -1.237 rs150620213 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RRN3 HGNC 30346 ENST00000561685 3/4 rs150620213 1 NA C:0.0005 C:0 GTT .,C 2.471e-05 16:15076611 RRN3 HGNC Symbol protein_coding 34295 ENSG00000085721 ENSE00003544685 missense_variant -1.155922 0.2016 0.03568 0.706548 0.7424002 0 0.0004745804 FALSE 2.03292e-05 ENSE00001609036_030 ENSE00001609036 030 16 15170382 15170551 - 33 93 44 A G 15170523 1021 29 TTTTTTAAATCCTTTTATTCTTTTTTTTCCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 15076665 15076666 15076666 upstr_intron -16 -0.3409091 TTTTTTAAATCCTTTTATTCTTTTTTTTCCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG mutant NA NA NA NA NA 150 129 1 1 1 NA NA 0.9873663 0.9856251 NA NA 0.01263367 0.01437493 NA 0.9864957 NA 0.0135043 NA FALSE NA 0 -2.653 . intron_variant&non_coding_transcript_variant MODIFIER RRN3 HGNC 30346 ENST00000561685 2/3 1 NA GAA .,G 8.249e-06 16:15076666 RRN3 HGNC Symbol protein_coding 34295 ENSG00000085721 ENSE00003544685 intron_variant -0.443004 0.09898 0.00373 0.099367 0.235618 0.0666035 0.0004745804 FALSE 4.32335e-06 ENSE00001609036_031 ENSE00001609036 031 16 15170382 15170551 - 33 93 44 G T 15170532 1022 20 TTTTTTAAATCCTTTTATTATTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 15076674 15076675 15076675 upstr_intron -25 -0.5454545 TTTTTTAAATCCTTTTATTATTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG mutant NA NA NA NA NA 141 31 1 0.9987628 0.9993814 NA NA 0.9873663 0.9856251 NA NA 0.01263367 0.01313777 NA 0.9864957 NA 0.01288572 NA FALSE NA 0 -1.662 . intron_variant&non_coding_transcript_variant MODIFIER RRN3 HGNC 30346 ENST00000561685 2/3 1 NA AGA .,T 0.0001483 16:15076675 RRN3 HGNC Symbol protein_coding 34295 ENSG00000085721 ENSE00003544685 intron_variant -0.398057 0.14019 0.06361 0.099367 0.634664 0.0666035 0.0004745804 FALSE 0.000185495 ENSE00001609036_033 ENSE00001609036 033 16 15170382 15170551 - 33 93 44 G A 15170540 1024 12 TTTTTTAAATCTTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 15076682 15076683 15076683 upstr_intron -33 -0.7272727 TTTTTTAAATCTTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG mutant NA NA NA NA NA 19 41 1 0.9824858 0.9912429 NA NA 0.9873663 0.9856251 NA NA 0.01263367 -0.003139306 NA 0.9864957 NA 0.004747181 NA FALSE NA 0 -0.653 . intron_variant&non_coding_transcript_variant MODIFIER RRN3 HGNC 30346 ENST00000561685 2/3 1 NA AGG .,A 8.239e-06 16:15076683 RRN3 HGNC Symbol protein_coding 34295 ENSG00000085721 ENSE00003544685 intron_variant 0.249814 0.13084 0.02903 0.099367 0.668104 0.107132 0.0004745804 FALSE NA ENSE00001609036_034 ENSE00001609036 034 16 15170382 15170551 - 33 93 44 G C 15170541 1025 11 TTTTTTAAATGCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 15076683 15076684 15076684 upstr_intron -34 -0.75 TTTTTTAAATGCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG mutant NA NA NA NA NA 123 138 1 0.9897255 0.9948627 NA NA 0.9873663 0.9856251 NA NA 0.01263367 0.004100432 NA 0.9864957 NA 0.00836705 NA FALSE NA 0 -1.3 . intron_variant&non_coding_transcript_variant MODIFIER RRN3 HGNC 30346 ENST00000561685 2/3 1 NA GGA .,C 8.24e-06 16:15076684 RRN3 HGNC Symbol protein_coding 34295 ENSG00000085721 ENSE00003544685 intron_variant -0.465158 0.07701 0.00171 0.099367 0.5975448 0.0666035 0.0004745804 FALSE 4.16192e-06 ENSE00001612920_003 ENSE00001612920 003 11 60617360 60617529 + 53 75 42 C T 60617381 1337 22 ACCAGGGCTGCCTCTGCTCCCTGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60849907 60849908 60849908 upstr_intron -32 -0.5849057 ACCAGGGCTGCCTCTGCTCCCTGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 938 114 0.9965262 1 0.9982631 NA NA 0.9870172 0.9946678 NA NA 0.009509046 0.005332198 NA 0.9908425 NA 0.007420622 NA FALSE NA 0 -1.507 . intron_variant MODIFIER CCDC86 HGNC 28359 ENST00000227520 2/3 1 NA CCG C,T 8.239e-06 11:60849908 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 intron_variant -0.003501 0.18638 0.01149 0.115753 0.7926132 0.141637 0.001477357 FALSE NA ENSE00001612920_004 ENSE00001612920 004 11 60617360 60617529 + 53 75 42 G A 60617382 1338 23 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTCTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTTGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60849908 60849909 60849909 upstr_intron -31 -0.5660377 ACCAGGGCTGCCTCTGCTCCCCAACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 140 1018 0.9889133 0.9991733 0.9940433 NA NA 0.9870172 0.9946678 NA NA 0.001896122 0.004505488 NA 0.9908425 NA 0.003200805 NA FALSE NA 0 0.203 . intron_variant MODIFIER CCDC86 HGNC 28359 ENST00000227520 2/3 1 NA CGA G,A 2.472e-05 11:60849909 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 intron_variant 0.032381 0.1771 0.1176 0.115753 0.7557554 0.141637 0.001477357 FALSE 4.25438e-05 ENSE00001612920_005 ENSE00001612920 005 11 60617360 60617529 + 53 75 42 C T 60617386 1339 27 ACCAGGGCTGCCTCTGCTCCCCGACTTAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60849912 60849913 60849913 upstr_intron -27 -0.490566 ACCAGGGCTGCCTCTGCTCCCCGACTTAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 163 259 0.9989857 1 0.9994929 NA NA 0.9870172 0.9946678 NA NA 0.0119685 0.005332198 NA 0.9908425 NA 0.008650351 NA FALSE NA 0 0.525 . intron_variant MODIFIER CCDC86 HGNC 28359 ENST00000227520 2/3 1 NA TCA C,T 1.648e-05 11:60849913 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 intron_variant 0.960432 0.25785 0.03955 0.115753 0.86275 0.141637 0.001477357 FALSE 4.18547e-06 ENSE00001612920_006 ENSE00001612920 006 11 60617360 60617529 + 53 75 42 C T 60617425 1340 66 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGTGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60849951 60849952 60849952 exon 13 0.1733333 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGTGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 1842 353 0.9959944 1 0.9979972 NA NA 0.9870172 0.9946678 NA NA 0.00897721 0.005332198 NA 0.9908425 NA 0.007154704 NA FALSE NA 0.995 2.555 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 1 deleterious(0.02) benign(0.436) NA GCG C,T 4.118e-05 11:60849952 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 5.09666 0.96773 0.91871 0.706548 0.9988359 0 0.001477357 FALSE 5.29152e-05 ENSE00001612920_009 ENSE00001612920 009 11 60617360 60617529 + 53 75 42 C T 60617427 1343 68 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGTCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60849953 60849954 60849954 exon 15 0.2 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGTCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 400 131 0.9074734 1 0.9537367 NA NA 0.9870172 0.9946678 NA NA -0.07954384 0.005332198 NA 0.9908425 NA -0.03710582 NA FALSE NA 0.958 0.277 . synonymous_variant LOW CCDC86 HGNC 28359 ENST00000227520 3/4 1 NA GCC C,T 8.237e-06 11:60849954 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 synonymous_variant 1.365994 0.96253 0.88175 0.706548 0.7371564 0 0.001477357 FALSE 4.06775e-06 ENSE00001612920_010 ENSE00001612920 010 11 60617360 60617529 + 53 75 42 C G 60617428 1344 69 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCGGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60849954 60849955 60849955 exon 16 0.2133333 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCGGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 496 583 1 0.9819148 0.9909574 NA NA 0.9870172 0.9946678 NA NA 0.0129828 -0.01275297 NA 0.9908425 NA 0.0001149172 NA FALSE NA 0.981 1.262 rs145131633 missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 rs145131633 1 deleterious(0) probably_damaging(0.913) G:0.0010 G:0 G:0.0029 NA G:0 G:0.003 G:0 G:0.0011 G:0.0047 CCG C,G 0.003097 11:60849955 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 5.074048 0.95972 0.92635 0.706548 0.9765326 0 0.001477357 FALSE 0.00292902 ENSE00001612920_011 ENSE00001612920 011 11 60617360 60617529 + 53 75 42 G A 60617429 1345 70 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTCTCAGCCTGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60849955 60849956 60849956 exon 17 0.2266667 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCAGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 606 248 0.9988398 1 0.9994199 NA NA 0.9870172 0.9946678 NA NA 0.01182258 0.005332198 NA 0.9908425 NA 0.008577389 NA FALSE NA 0.991 3.691 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 rs371756287 1 deleterious(0.04) possibly_damaging(0.857) NA A:0.0002 A:0 CGG G,A 3.295e-05 11:60849956 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 4.961644 0.97418 0.94139 0.706548 0.9942295 0 0.001477357 FALSE 2.03409e-05 ENSE00001612920_012 ENSE00001612920 012 11 60617360 60617529 + 53 75 42 G A 60617431 1346 72 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTCTCAGTCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60849957 60849958 60849958 exon 19 0.2533333 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGACTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 64 670 1 0.9875712 0.9937856 NA NA 0.9870172 0.9946678 NA NA 0.0129828 -0.007096623 NA 0.9908425 NA 0.00294309 NA FALSE NA 0.993 3.683 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 1 deleterious(0.05) probably_damaging(0.988) NA GGC G,A 1.647e-05 11:60849958 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 4.241563 0.6058 0.80938 0.706548 0.9984593 0 0.001477357 FALSE 8.13345e-06 ENSE00001612920_013 ENSE00001612920 013 11 60617360 60617529 + 53 75 42 C A 60617432 1347 73 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTCTCATCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60849958 60849959 60849959 exon 20 0.2666667 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGATGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 345 130 0.9940916 1 0.9970458 NA NA 0.9870172 0.9946678 NA NA 0.007074372 0.005332198 NA 0.9908425 NA 0.006203285 NA FALSE NA 0.967 1.927 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 1 tolerated(0.05) probably_damaging(0.983) NA GCT C,A 1.647e-05 11:60849959 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 4.483021 0.52806 0.4889 0.706548 0.9956827 0 0.001477357 FALSE 8.13312e-06 ENSE00001612920_014 ENSE00001612920 014 11 60617360 60617529 + 53 75 42 G A 60617436 1348 77 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTTTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60849962 60849963 60849963 exon 24 0.32 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAAAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 1130 521 0.9976778 1 0.9988389 NA NA 0.9870172 0.9946678 NA NA 0.01066063 0.005332198 NA 0.9908425 NA 0.007996416 NA FALSE NA 1 1.747 . synonymous_variant LOW CCDC86 HGNC 28359 ENST00000227520 3/4 1 NA AGA G,A 8.237e-06 11:60849963 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 synonymous_variant 1.174221 0.95599 0.68922 0.706548 0.8644982 0 0.001477357 FALSE 4.06521e-06 ENSE00001612920_017 ENSE00001612920 017 11 60617360 60617529 + 53 75 42 C T 60617446 1351 87 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAATGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60849972 60849973 60849973 exon 34 0.4533333 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAATGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 491 488 0.9989053 0.9893121 0.9941087 NA NA 0.9870172 0.9946678 NA NA 0.01188808 -0.005355678 NA 0.9908425 NA 0.0032662 NA FALSE NA 0.667 1.255 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 rs374168203 1 deleterious(0) probably_damaging(1) NA T:0.0002 T:0 ACG C,T 3.295e-05 11:60849973 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 7.964205 0.96374 0.81408 0.706548 0.9992349 0 0.001477357 FALSE 1.62607e-05 ENSE00001612920_018 ENSE00001612920 018 11 60617360 60617529 + 53 75 42 G A 60617447 1352 88 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGTGTTTCAGGTTCTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60849973 60849974 60849974 exon 35 0.4666667 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACACCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 443 132 0.9982215 0.9675115 0.9828665 NA NA 0.9870172 0.9946678 NA NA 0.01120427 -0.02715635 NA 0.9908425 NA -0.007976038 NA FALSE NA 0.995 4.739 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 1 deleterious(0.01) probably_damaging(1) NA CGC G,A 1.647e-05 11:60849974 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 7.689841 0.9857 0.89833 0.706548 0.9995779 0 0.001477357 FALSE 1.21947e-05 ENSE00001612920_019 ENSE00001612920 019 11 60617360 60617529 + 53 75 42 C T 60617449 1353 90 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCTGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60849975 60849976 60849976 exon 37 0.4933333 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCTGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 500 1024 0.997924 0.9989149 0.9984194 NA NA 0.9870172 0.9946678 NA NA 0.01090677 0.004247081 NA 0.9908425 NA 0.007576928 NA FALSE NA 0.998 3.482 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 1 deleterious(0) probably_damaging(1) NA CCG C,T 4.942e-05 11:60849976 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 8.078437 0.97486 0.93787 0.706548 0.9992938 0 0.001477357 FALSE 3.25187e-05 ENSE00001612920_020 ENSE00001612920 020 11 60617360 60617529 + 53 75 42 G A 60617450 1354 91 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGTGGCGTTTCAGGTTCTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60849976 60849977 60849977 exon -38 0.5066667 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCACCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 758 880 0.9524056 0.997719 0.9750623 NA NA 0.9870172 0.9946678 NA NA -0.03461159 0.0030512 NA 0.9908425 NA -0.01578019 NA FALSE NA 1 4.739 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 rs200195261 1 deleterious(0.02) probably_damaging(1) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGC G,A 3.295e-05 11:60849977 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 7.61418 0.9857 0.91183 0.706548 0.9995809 0 0.001477357 FALSE 3.25187e-05 ENSE00001612920_025 ENSE00001612920 025 11 60617360 60617529 + 53 75 42 C A 60617478 1359 119 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACTACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTCTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60850004 60850005 60850005 exon -10 0.88 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTAGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 137 295 1 0.9762222 0.9881111 NA NA 0.9870172 0.9946678 NA NA 0.0129828 -0.01844562 NA 0.9908425 NA -0.002731409 NA FALSE NA 0 -4.525 . synonymous_variant LOW CCDC86 HGNC 28359 ENST00000227520 3/4 1 NA TCG C,A 8.237e-06 11:60850005 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 synonymous_variant 2.453634 0.29114 0.03644 0.706548 0.8880998 0 0.001477357 FALSE 1.21987e-05 ENSE00001612920_026 ENSE00001612920 026 11 60617360 60617529 + 53 75 42 G A 60617479 1360 120 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGATGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTCTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60850005 60850006 60850006 exon -9 0.8933333 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCATCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 684 784 0.9990507 0.9985241 0.9987874 NA NA 0.9870172 0.9946678 NA NA 0.01203351 0.003856306 NA 0.9908425 NA 0.00794491 NA FALSE NA 1 6.481 . missense_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 1 deleterious(0.02) probably_damaging(1) NA CGT G,A 3.295e-05 11:60850006 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 6.762077 0.98584 0.97913 0.706548 0.9989373 0 0.001477357 FALSE 2.4399e-05 ENSE00001612920_027 ENSE00001612920 027 11 60617360 60617529 + 53 75 42 G C 60617485 1361 126 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAACTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60850011 60850012 60850012 exon -3 0.9733333 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAACTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 804 334 0.9562648 0.9959096 0.9760872 NA NA 0.9870172 0.9946678 NA NA -0.03075241 0.00124184 NA 0.9908425 NA -0.01475528 NA FALSE NA 1 4.739 . missense_variant&splice_region_variant MODERATE CCDC86 HGNC 28359 ENST00000227520 3/4 1 deleterious(0) probably_damaging(0.997) NA AGT G,C 1.647e-05 11:60850012 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 6.309913 0.98669 0.96375 0.706548 0.9979609 0 0.001477357 FALSE 1.22011e-05 ENSE00001612920_028 ENSE00001612920 028 11 60617360 60617529 + 53 75 42 T C 60617493 1362 134 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACGCTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTCTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60850019 60850020 60850020 downstr_intron 6 1.146341 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGCGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 621 396 0.9924827 0.8300605 0.9112716 NA NA 0.9870172 0.9946678 NA NA 0.005465536 -0.1646073 NA 0.9908425 NA -0.07957089 NA FALSE NA 0.96 1.842 . splice_region_variant&intron_variant LOW CCDC86 HGNC 28359 ENST00000227520 3/3 1 NA GTG T,C 8.236e-06 11:60850020 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 splice_region_variant 1.794645 0.97913 0.84017 0.099367 0.9614789 0.837877 0.001477357 FALSE 1.62812e-05 ENSE00001612920_029 ENSE00001612920 029 11 60617360 60617529 + 53 75 42 C T 60617498 1363 139 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTTGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60850024 60850025 60850025 downstr_intron 11 1.268293 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTTGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 64 346 1 1 1 NA NA 0.9870172 0.9946678 NA NA 0.0129828 0.005332198 NA 0.9908425 NA 0.009157501 NA FALSE NA 0 -1.339 . intron_variant MODIFIER CCDC86 HGNC 28359 ENST00000227520 3/3 1 NA TCG C,T 8.236e-06 11:60850025 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 intron_variant 0.476598 0.28444 0.01568 0.099367 0.843106 0.079972 0.001477357 FALSE 4.07564e-06 ENSE00001612920_030 ENSE00001612920 030 11 60617360 60617529 + 53 75 42 G A 60617499 1364 140 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAATGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGGTTCTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60850025 60850026 60850026 downstr_intron 12 1.292683 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCATTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 169 525 1 0.9937473 0.9968736 NA NA 0.9870172 0.9946678 NA NA 0.0129828 -0.0009205022 NA 0.9908425 NA 0.006031151 NA FALSE NA 0 -0.438 . intron_variant MODIFIER CCDC86 HGNC 28359 ENST00000227520 3/3 rs200647837 1 A:0.0004 A:0 A:0 NA A:0 A:0.001 A:0.001 A:0 A:0.0008 CGT G,A 0.0001894 11:60850026 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 intron_variant -0.195992 0.15852 0.00882 0.099367 0.7494147 0.0704128 0.001477357 FALSE 0.000285376 ENSE00001612920_031 ENSE00001612920 031 11 60617360 60617529 + 53 75 42 C G 60617507 1365 148 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCGCTCTGCCCTTCTGCCCCACTTG 60849886 60850056 60850033 60850034 60850034 downstr_intron 20 1.487805 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCGCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 1382 617 0.9997102 0.974665 0.9871876 NA NA 0.9870172 0.9946678 NA NA 0.01269298 -0.0200028 NA 0.9908425 NA -0.003654908 NA FALSE NA 0.001 0.745 . intron_variant MODIFIER CCDC86 HGNC 28359 ENST00000227520 3/3 rs371844084 1 NA G:0 G:0.0001 CCC C,G 3.295e-05 11:60850034 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 intron_variant 0.135154 0.22338 0.04095 0.099367 0.7020644 0.0705073 0.001477357 FALSE 2.45286e-05 ENSE00001614247_001 ENSE00001614247 001 8 6357322 6357491 + 51 78 41 G A 6357340 37 19 CTGCTAAGGCTAATAAATATATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499818 6499819 6499819 upstr_intron -33 -0.627451 CTGCTAAGGCTAATAAATATATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 138 226 0.9963655 0.9938799 0.9951227 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01866748 0.195421 0.9972356 0.8880785 NA 0.1070442 NA FALSE NA 0 -1.196 . intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 3/4 1 NA TGT G,A 8.276e-06 8:6499819 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant 0.187148 0.2012 0.02987 0.163922 0.6389004 0.0409333 5.16507e-18 FALSE 2.03163e-05 ENSE00001614247_002 ENSE00001614247 002 8 6357322 6357491 + 51 78 41 A G 6357342 38 21 CTGCTAAGGCTAATAAATGTGTAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499820 6499821 6499821 upstr_intron -31 -0.5882353 CTGCTAAGGCTAATAAATGTGTAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 3385 36 0.9908735 0.977377 0.9841253 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01317547 0.1789181 0.9972356 0.8880785 NA 0.09604681 NA FALSE NA 0 -0.345 . intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 3/4 rs376468118 1 NA TAT A,G 8.276e-06 8:6499821 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant 0.027692 0.20794 0.06155 0.163922 0.4782489 0.0409333 5.16507e-18 FALSE 4.06299e-06 ENSE00001614247_003 ENSE00001614247 003 8 6357322 6357491 + 51 78 41 T C 6357343 39 22 CTGCTAAGGCTAATAAATGTACAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499821 6499822 6499822 upstr_intron -30 -0.5686275 CTGCTAAGGCTAATAAATGTACAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 903 2833 1 0.9972672 0.9986336 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02230194 0.1988083 0.9972356 0.8880785 NA 0.1105551 NA FALSE NA 0 0.03 . intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 3/4 1 NA ATA T,C 8.276e-06 8:6499822 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant 0.189263 0.21904 0.15387 0.163922 0.5354844 0.0409333 5.16507e-18 FALSE 8.12559e-06 ENSE00001614247_004 ENSE00001614247 004 8 6357322 6357491 + 51 78 41 G C 6357360 40 39 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTCTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499838 6499839 6499839 upstr_intron -13 -0.2352941 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTCTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 145 529 0.9799627 1 0.9899814 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.002264658 0.2015411 0.9972356 0.8880785 NA 0.1019029 NA FALSE NA 0 -0.877 rs140013412 intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 3/4 rs140013412 1 C:0.0000 C:0 C:0 NA C:0 C:0 C:0 C:0.0003 C:0 TGT G,C 8.276e-06 8:6499839 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant -0.136448 0.16981 0.04159 0.322412 0.4198456 0.136991 5.16507e-18 FALSE 1.62464e-05 ENSE00001614247_006 ENSE00001614247 006 8 6357322 6357491 + 51 78 41 C T 6357366 42 45 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCATTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499844 6499845 6499845 upstr_intron -7 -0.1176471 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCATTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 693 1505 0.9926208 0.9998949 0.9962579 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01492275 0.201436 0.9972356 0.8880785 NA 0.1081794 NA FALSE NA 0 -0.071 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MCPH1 HGNC 6954 ENST00000519221 3/4 rs375022779 1 NA T:0 T:0.0002 ACT C,T 2.483e-05 8:6499845 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 splice_region_variant 0.305682 0.21492 0.01632 0.322412 0.7595005 0.142994 5.16507e-18 FALSE 3.24926e-05 ENSE00001614247_007 ENSE00001614247 007 8 6357322 6357491 + 51 78 41 T A 6357367 43 46 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACATGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499845 6499846 6499846 upstr_intron -6 -0.09803922 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACATGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 260 299 1 0.9748597 0.9874298 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02230194 0.1764008 0.9972356 0.8880785 NA 0.09935136 NA FALSE NA 0.91 2.948 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW MCPH1 HGNC 6954 ENST00000519221 3/4 1 NA CTT T,A 8.276e-06 8:6499846 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 splice_region_variant 0.393786 0.46923 0.91638 0.322412 0.8261006 0.656041 5.16507e-18 FALSE 4.06147e-06 ENSE00001614247_010 ENSE00001614247 010 8 6357322 6357491 + 51 78 41 C G 6357383 46 62 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTGTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499861 6499862 6499862 exon 11 0.1410256 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTGTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 404 366 1 0.9991638 0.9995819 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02230194 0.2007049 0.9972356 0.8880785 NA 0.1115034 NA FALSE NA 1 4.485 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA TCT C,G 8.275e-06 8:6499862 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 5.378917 0.989 0.92616 0.732398 0.9890719 0 5.16507e-18 FALSE 1.21837e-05 ENSE00001614247_011 ENSE00001614247 011 8 6357322 6357491 + 51 78 41 G T 6357395 47 74 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGTTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499873 6499874 6499874 exon 23 0.2948718 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGTTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 1166 2225 0.8982308 0.8763886 0.8873097 0.9978491 0.9966222 0.9776981 0.7984589 NA NA -0.07946725 0.07792972 0.9972356 0.8880785 NA -0.0007687674 NA FALSE NA 1 7.092 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA GGT G,T 8.275e-06 8:6499874 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 5.657767 0.9909 0.98325 0.732398 0.9971538 0 5.16507e-18 FALSE 4.06121e-06 ENSE00001614247_012 ENSE00001614247 012 8 6357322 6357491 + 51 78 41 A G 6357398 48 77 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCGCTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499876 6499877 6499877 exon 26 0.3333333 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCGCTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 378 702 0.994606 0.9931804 0.9938932 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.0169079 0.1947215 0.9972356 0.8880785 NA 0.1058147 NA FALSE NA 0.987 4.567 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA CAC A,G 8.274e-06 8:6499877 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 2.204946 0.98718 0.95799 0.732398 0.9809267 0 5.16507e-18 FALSE 4.06114e-06 ENSE00001614247_014 ENSE00001614247 014 8 6357322 6357491 + 51 78 41 G A 6357414 50 93 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAACCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499892 6499893 6499893 exon -37 0.5384615 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAACCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 278 214 1 0.99486 0.99743 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02230194 0.1964011 0.9972356 0.8880785 NA 0.1093515 NA FALSE NA 0.99 0.269 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA AGC G,A 8.275e-06 8:6499893 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 synonymous_variant 0.635318 0.96458 0.59937 0.732398 0.7546267 0 5.16507e-18 FALSE 4.06114e-06 ENSE00001614247_015 ENSE00001614247 015 8 6357322 6357491 + 51 78 41 C T 6357416 51 95 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCTGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499894 6499895 6499895 exon -35 0.5641026 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCTGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 567 54 0.9948245 1 0.9974123 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01712644 0.2015411 0.9972356 0.8880785 NA 0.1093338 NA FALSE NA 1 7.039 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 rs199861426&COSM1196714 1 NA T:0 T:0.0012 CCG C,T 0.001084 8:6499895 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 4.170786 0.98649 0.97161 0.732398 0.989933 0 5.16507e-18 FALSE 0.000982829 ENSE00001614247_016 ENSE00001614247 016 8 6357322 6357491 + 51 78 41 G A 6357417 52 96 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCATTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499895 6499896 6499896 exon -34 0.5769231 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCATTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 526 113 0.9997085 0.9985978 0.9991532 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02201048 0.2001389 0.9972356 0.8880785 NA 0.1110747 NA FALSE NA 0 -2.053 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA CGT G,A 1.655e-05 8:6499896 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 synonymous_variant 0.363659 0.10143 0.01916 0.732398 0.7408193 0 5.16507e-18 FALSE 1.6245e-05 ENSE00001614247_017 ENSE00001614247 017 8 6357322 6357491 + 51 78 41 G A 6357421 53 100 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCAAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499899 6499900 6499900 exon -30 0.6282051 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCAAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 169 27 0.9879762 0.9292764 0.9586263 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01027814 0.1308175 0.9972356 0.8880785 NA 0.07054782 NA FALSE NA 1 8.891 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 rs575824036 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 1.655e-05 8:6499900 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 6.479533 0.99464 0.98982 0.732398 0.9989291 0 5.16507e-18 FALSE 1.62448e-05 ENSE00001614247_018 ENSE00001614247 018 8 6357322 6357491 + 51 78 41 T A 6357425 54 104 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACAGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499903 6499904 6499904 exon -26 0.6794872 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACAGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 307 465 0.9929564 0.9939472 0.9934518 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01525837 0.1954883 0.9972356 0.8880785 NA 0.1053734 NA FALSE NA 1 5.537 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA CTG T,A 2.482e-05 8:6499904 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 4.948716 0.98757 0.96658 0.732398 0.9939997 0 5.16507e-18 FALSE 2.8428e-05 ENSE00001614247_019 ENSE00001614247 019 8 6357322 6357491 + 51 78 41 G C 6357426 55 105 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTCTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499904 6499905 6499905 exon -25 0.6923077 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTCTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 1840 882 0.9995518 0.9998206 0.9996862 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02185376 0.2013617 0.9972356 0.8880785 NA 0.1116077 NA FALSE NA 0.908 -0.298 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA TGT G,C 8.275e-06 8:6499905 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 synonymous_variant -0.504023 0.18108 0.25567 0.732398 0.5781132 0 5.16507e-18 FALSE 4.06124e-06 ENSE00001614247_022 ENSE00001614247 022 8 6357322 6357491 + 51 78 41 C G 6357432 58 111 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCAGCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499910 6499911 6499911 exon -19 0.7692308 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCAGCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 680 854 0.9963737 0.9174168 0.9568952 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01867562 0.1189579 0.9972356 0.8880785 NA 0.06881674 NA FALSE NA 0.078 -0.111 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA ACC C,G 1.655e-05 8:6499911 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant -0.179847 0.26658 0.11075 0.732398 0.8100983 0 5.16507e-18 FALSE 3.24894e-05 ENSE00001614247_023 ENSE00001614247 023 8 6357322 6357491 + 51 78 41 A G 6357434 59 113 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCGCTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499912 6499913 6499913 exon -17 0.7948718 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCGCTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 219 251 1 1 1 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02230194 0.2015411 0.9972356 0.8880785 NA 0.1119215 NA FALSE NA 0.679 1.926 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA CAC A,G 8.275e-06 8:6499913 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 0.42567 0.91412 0.64635 0.732398 0.9107078 0 5.16507e-18 FALSE 4.06114e-06 ENSE00001614247_028 ENSE00001614247 028 8 6357322 6357491 + 51 78 41 C G 6357440 64 119 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCGTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499918 6499919 6499919 exon -11 0.8717949 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCGTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 553 658 1 0.9978243 0.9989121 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02230194 0.1993654 0.9972356 0.8880785 NA 0.1108337 NA FALSE NA 1 5.334 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA CCT C,G 8.275e-06 8:6499919 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 6.848127 0.99477 0.98258 0.732398 0.998614 0 5.16507e-18 FALSE 4.06121e-06 ENSE00001614247_029 ENSE00001614247 029 8 6357322 6357491 + 51 78 41 A C 6357444 65 123 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCCGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499922 6499923 6499923 exon -7 0.9230769 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCCGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 174 532 0.9971268 1 0.9985634 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01942872 0.2015411 0.9972356 0.8880785 NA 0.1104849 NA FALSE NA 1 0.799 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA CAG A,C 2.483e-05 8:6499923 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 synonymous_variant 0.540519 0.97201 0.83455 0.732398 0.7078207 0 5.16507e-18 FALSE 1.62454e-05 ENSE00001614247_032 ENSE00001614247 032 8 6357322 6357491 + 51 78 41 C G 6357446 68 125 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGGTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499924 6499925 6499925 exon -5 0.9487179 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGGTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 1264 809 0.9998697 0.992806 0.9963378 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02217163 0.1943471 0.9972356 0.8880785 NA 0.1082594 NA FALSE NA 1 7.039 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/5 1 NA GCT C,G 0.0001159 8:6499925 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 missense_variant 6.626967 0.99137 0.98384 0.732398 0.9976334 0 5.16507e-18 FALSE 0.00011778 ENSE00001614247_036 ENSE00001614247 036 8 6357322 6357491 + 51 78 41 G A 6357451 72 130 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCATAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499929 6499930 6499930 downstr_intron 1 1.025 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCATAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 27 114 0.8 0.9484282 0.8742141 0.9978491 0.9966222 0.9776981 0.7984589 NA NA -0.1776981 0.1499693 0.9972356 0.8880785 NA -0.01386438 NA FALSE NA 1 8.891 . splice_donor_variant&non_coding_transcript_variant HIGH MCPH1 HGNC 6954 ENST00000519221 4/4 COSM422085 1 NA CGT G,A 3.31e-05 8:6499930 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 splice_donor_variant 5.32363 0.99066 0.98553 0.322412 0.9943725 0.847204 5.16507e-18 FALSE 2.03087e-05 ENSE00001614247_038 ENSE00001614247 038 8 6357322 6357491 + 51 78 41 G C 6357459 74 138 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCACATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499937 6499938 6499938 downstr_intron 9 1.225 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCACATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 2267 362 0.9661136 0.9565507 0.9613321 0.9978491 0.9966222 0.9776981 0.7984589 NA NA -0.01158446 0.1580918 0.9972356 0.8880785 NA 0.07325366 NA FALSE NA 0 -0.48 . intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/4 1 NA AGA G,C 8.276e-06 8:6499938 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant -0.334343 0.21379 0.07034 0.092769 0.6758474 0.158134 5.16507e-18 FALSE 8.12334e-06 ENSE00001614247_039 ENSE00001614247 039 8 6357322 6357491 + 51 78 41 G A 6357462 75 141 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATATTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499940 6499941 6499941 downstr_intron 12 1.3 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATATTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 170 1234 0.9785875 0.9890623 0.9838249 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.000889461 0.1906034 0.9972356 0.8880785 NA 0.09574643 NA FALSE NA 0 -0.012 . intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/4 1 NA TGT G,A 3.31e-05 8:6499941 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant 0.123412 0.23316 0.04668 0.092769 0.8311822 0.144099 5.16507e-18 FALSE 2.03092e-05 ENSE00001614247_042 ENSE00001614247 042 8 6357322 6357491 + 51 78 41 G A 6357472 78 151 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACAATGGTAAATGCAGTTTGCT 6499800 6499970 6499950 6499951 6499951 downstr_intron 22 1.55 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACAATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 966 447 0.989893 1 0.9949465 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.0121949 0.2015411 0.9972356 0.8880785 NA 0.106868 NA FALSE NA 0.001 0.53 . intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/4 1 NA CGA G,A 0.0001655 8:6499951 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant 0.517792 0.20826 0.08373 0.092769 0.7973697 0.144099 5.16507e-18 FALSE 0.000166562 ENSE00001614247_043 ENSE00001614247 043 8 6357322 6357491 + 51 78 41 G A 6357476 79 155 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGATAAATGCAGTTTGCT 6499800 6499970 6499954 6499955 6499955 downstr_intron 26 1.65 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGATAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 275 934 0.9925933 0.9930093 0.9928013 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01489523 0.1945504 0.9972356 0.8880785 NA 0.1047228 NA FALSE NA 0 -1.174 . intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/4 1 NA GGT G,A 8.276e-06 8:6499955 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant 0.179572 0.15001 0.05289 0.092769 0.8388595 0.144099 5.16507e-18 FALSE 4.06286e-06 ENSE00001614247_044 ENSE00001614247 044 8 6357322 6357491 + 51 78 41 T G 6357477 80 156 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGGAAATGCAGTTTGCT 6499800 6499970 6499955 6499956 6499956 downstr_intron 27 1.675 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGGAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 88 257 0.9961976 0.9725788 0.9843882 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.01849957 0.1741199 0.9972356 0.8880785 NA 0.09630975 NA FALSE NA 0 1.782 . intron_variant&non_coding_transcript_variant MODIFIER MCPH1 HGNC 6954 ENST00000519221 4/4 1 NA GTA T,G 8.276e-06 8:6499956 MCPH1 HGNC Symbol protein_coding 241912 ENSG00000147316 ENSE00003625574 3_prime_UTR_variant 0.547308 0.26202 0.18203 0.092769 0.6661326 0.144099 5.16507e-18 FALSE 4.06256e-06 ENSE00001620643_001 ENSE00001620643 001 1 39715641 39715810 + 45 90 35 A G 39715651 1283 11 ATTCAATATCGAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39249978 39249979 39249979 upstr_intron -35 -0.7555556 ATTCAATATCGAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 901 1087 1 0.9930468 0.9965234 0.9949663 1 0.976583 0.9655305 NA NA 0.02341696 0.02751627 0.9974832 0.9710568 NA 0.02546662 NA FALSE NA 0.002 1.096 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 2/92 1 NA CAA A,G 2.471e-05 1:39249979 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 non_coding_transcript_exon_variant 1.459198 0.30939 0.14317 0.156188 0.8372813 0.288125 1 TRUE 3.02068e-05 ENSE00001620643_002 ENSE00001620643 002 1 39715641 39715810 + 45 90 35 A G 39715653 1284 13 ATTCAATATCAAGTAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39249980 39249981 39249981 upstr_intron -33 -0.7111111 ATTCAATATCAAGTAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 1280 657 0.9993875 0.9972837 0.9983356 0.9949663 1 0.976583 0.9655305 NA NA 0.02280448 0.0317532 0.9974832 0.9710568 NA 0.02727884 NA FALSE NA 0.003 0.102 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 2/92 1 NA AAT A,G 1.647e-05 1:39249981 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 non_coding_transcript_exon_variant 1.183772 0.21182 0.04385 0.156188 0.7779583 0.288125 1 TRUE 8.60222e-06 ENSE00001620643_003 ENSE00001620643 003 1 39715641 39715810 + 45 90 35 C T 39715661 1285 21 ATTCAATATCAAATAAAAATTTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39249988 39249989 39249989 upstr_intron -25 -0.5333333 ATTCAATATCAAATAAAAATTTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 999 2723 0.9960691 0.9937952 0.9949322 0.9949663 1 0.976583 0.9655305 NA NA 0.01948608 0.02826477 0.9974832 0.9710568 NA 0.02387543 NA FALSE NA 0 -0.108 rs148500812 intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 2/92 rs148500812 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0007 T:0 TCT C,T 4.942e-05 1:39249989 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 non_coding_transcript_exon_variant 1.814214 0.22392 0.01387 0.295142 0.8595995 0.289973 1 TRUE 3.86399e-05 ENSE00001620643_004 ENSE00001620643 004 1 39715641 39715810 + 45 90 35 G A 39715663 1286 23 ATTCAATATCAAATAAAAATCTATCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39249990 39249991 39249991 upstr_intron -23 -0.4888889 ATTCAATATCAAATAAAAATCTATCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 60 325 1 0.997559 0.9987795 0.9949663 1 0.976583 0.9655305 NA NA 0.02341696 0.03202856 0.9974832 0.9710568 NA 0.02772276 NA FALSE NA 0 0.007 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 2/92 1 NA TGT G,A 8.236e-06 1:39249991 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 non_coding_transcript_exon_variant 1.569499 0.17588 0.06806 0.295142 0.8506417 0.288125 1 TRUE 4.23091e-06 ENSE00001620643_005 ENSE00001620643 005 1 39715641 39715810 + 45 90 35 C T 39715671 1287 31 ATTCAATATCAAATAAAAATCTGTCTGTTTTACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39249998 39249999 39249999 upstr_intron -15 -0.3111111 ATTCAATATCAAATAAAAATCTGTCTGTTTTACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 1168 193 0.9997531 1 0.9998766 0.9949663 1 0.976583 0.9655305 NA NA 0.02317006 0.03446952 0.9974832 0.9710568 NA 0.02881979 NA FALSE NA 0 -0.737 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 2/92 1 NA TCA C,T 8.236e-06 1:39249999 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 non_coding_transcript_exon_variant 2.040802 0.23157 0.00453 0.295142 0.8410047 0.288125 1 TRUE 4.18676e-06 ENSE00001620643_006 ENSE00001620643 006 1 39715641 39715810 + 45 90 35 A G 39715678 1288 38 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCGTTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250005 39250006 39250006 upstr_intron -8 -0.1555556 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCGTTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 346 573 0.4524818 0.2793912 0.3659365 0.9949663 1 0.976583 0.9655305 NA NA -0.5241012 -0.6861393 0.9974832 0.9710568 NA -0.6051202 NA TRUE NA 0 -2.116 . splice_region_variant&intron_variant LOW MACF1 HGNC 13664 ENST00000361689 2/92 1 NA CAT A,G 8.236e-06 1:39250006 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 splice_region_variant 2.026327 0.20262 0.04688 0.295142 0.8011002 0.363967 1 TRUE 4.14945e-06 ENSE00001620643_007 ENSE00001620643 007 1 39715641 39715810 + 45 90 35 T C 39715679 1289 39 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCACTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250006 39250007 39250007 upstr_intron -7 -0.1333333 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCACTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 1290 612 0.9961597 0.9996792 0.9979194 0.9949663 1 0.976583 0.9655305 NA NA 0.01957669 0.03414869 0.9974832 0.9710568 NA 0.02686269 NA FALSE NA 0 -1.205 . splice_region_variant&intron_variant LOW MACF1 HGNC 13664 ENST00000361689 2/92 1 NA ATT T,C 8.236e-06 1:39250007 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 splice_region_variant 1.765072 0.26105 0.04417 0.295142 0.8416209 0.396382 1 TRUE 4.14748e-06 ENSE00001620643_008 ENSE00001620643 008 1 39715641 39715810 + 45 90 35 C T 39715683 1290 43 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCATAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250010 39250011 39250011 upstr_intron -3 -0.04444444 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCATAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 899 1227 0.9447479 0.9977032 0.9712255 0.9949663 1 0.976583 0.9655305 NA NA -0.03183514 0.03217271 0.9974832 0.9710568 NA 0.0001687843 NA FALSE NA 0.634 1.531 . splice_region_variant&intron_variant LOW MACF1 HGNC 13664 ENST00000361689 2/92 rs541379944 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACA C,T 9.06e-05 1:39250011 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 splice_region_variant 1.884219 0.97806 0.74575 0.295142 0.8569723 0.483802 1 TRUE 5.7856e-05 ENSE00001620643_009 ENSE00001620643 009 1 39715641 39715810 + 45 90 35 G C 39715686 1291 46 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGCTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250013 39250014 39250014 exon 1 0.01111111 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGCTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 458 431 0.8104985 0.9947358 0.9026172 0.9949663 1 0.976583 0.9655305 NA NA -0.1660845 0.02920535 0.9974832 0.9710568 NA -0.06843957 NA FALSE NA 1 9.479 . missense_variant&splice_region_variant MODERATE MACF1 HGNC 13664 ENST00000361689 3/93 1 possibly_damaging(0.546) NA GGT G,C 1.647e-05 1:39250014 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 missense_variant 5.873917 0.99547 0.99084 0.732398 0.9983891 0 1 TRUE 1.64543e-05 ENSE00001620643_010 ENSE00001620643 010 1 39715641 39715810 + 45 90 35 C T 39715689 1292 49 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCTGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250016 39250017 39250017 exon 4 0.04444444 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCTGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 281 746 0.9927509 0.9985587 0.9956548 0.9949663 1 0.976583 0.9655305 NA NA 0.01616782 0.0330282 0.9974832 0.9710568 NA 0.02459801 NA FALSE NA 1 4.672 . missense_variant MODERATE MACF1 HGNC 13664 ENST00000361689 3/93 1 probably_damaging(0.931) NA CCG C,T 8.236e-06 1:39250017 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 missense_variant 7.60411 0.98799 0.93074 0.732398 0.999413 0 1 TRUE 1.23081e-05 ENSE00001620643_012 ENSE00001620643 012 1 39715641 39715810 + 45 90 35 A G 39715702 1294 62 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAGTGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250029 39250030 39250030 exon 17 0.1888889 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAGTGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 554 354 1 1 1 0.9949663 1 0.976583 0.9655305 NA NA 0.02341696 0.03446952 0.9974832 0.9710568 NA 0.02894324 NA FALSE NA 1 5.087 rs143548063 missense_variant MODERATE MACF1 HGNC 13664 ENST00000361689 3/93 rs143548063 1 possibly_damaging(0.546) G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 G:0 G:0.0002 AAT A,G 0.0002389 1:39250030 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 missense_variant 4.895043 0.98512 0.92659 0.732398 0.9971614 0 1 TRUE 0.000268769 ENSE00001620643_013 ENSE00001620643 013 1 39715641 39715810 + 45 90 35 T G 39715718 1295 78 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGAGCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250045 39250046 39250046 exon 33 0.3666667 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGAGCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 834 173 0.9959327 0.9886264 0.9922796 0.9949663 1 0.976583 0.9655305 NA NA 0.01934964 0.02309596 0.9974832 0.9710568 NA 0.0212228 NA FALSE NA 0.997 0.586 . missense_variant MODERATE MACF1 HGNC 13664 ENST00000361689 3/93 1 benign(0.037) NA ATC T,G 8.236e-06 1:39250046 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 missense_variant 3.279638 0.97575 0.84513 0.732398 0.9968079 0 1 TRUE 4.06322e-06 ENSE00001620643_016 ENSE00001620643 016 1 39715641 39715810 + 45 90 35 G A 39715725 1298 85 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGAATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250052 39250053 39250053 exon 40 0.4444444 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGAATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 523 1235 1 0.9363758 0.9681879 0.9949663 1 0.976583 0.9655305 NA NA 0.02341696 -0.0291547 0.9974832 0.9710568 NA -0.00286887 NA FALSE NA 1 9.479 . missense_variant MODERATE MACF1 HGNC 13664 ENST00000361689 3/93 1 possibly_damaging(0.594) NA GGA G,A 8.236e-06 1:39250053 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 missense_variant 6.33359 0.9953 0.9889 0.732398 0.9992587 0 1 TRUE 8.1283e-06 ENSE00001620643_017 ENSE00001620643 017 1 39715641 39715810 + 45 90 35 C G 39715744 1299 104 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTGTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250071 39250072 39250072 exon -32 0.6555556 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTGTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 1463 985 0.9996055 0.9998007 0.9997031 0.9949663 1 0.976583 0.9655305 NA NA 0.02302248 0.03427023 0.9974832 0.9710568 NA 0.02864636 NA FALSE NA 1 7.522 rs140873304 missense_variant MODERATE MACF1 HGNC 13664 ENST00000361689 3/93 rs140873304 1 probably_damaging(0.998) NA G:0 G:0.0001 TCT C,G 8.236e-06 1:39250072 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 missense_variant 6.113799 0.99542 0.98541 0.732398 0.9922255 0 1 TRUE NA ENSE00001620643_018 ENSE00001620643 018 1 39715641 39715810 + 45 90 35 A G 39715770 1300 130 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCGAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250097 39250098 39250098 exon -6 0.9444444 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCGAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 593 245 1 0.9879716 0.9939858 0.9949663 1 0.976583 0.9655305 NA NA 0.02341696 0.02244116 0.9974832 0.9710568 NA 0.02292906 NA FALSE NA 1 4.748 . missense_variant MODERATE MACF1 HGNC 13664 ENST00000361689 3/93 1 benign(0.409) NA CAA A,G 8.236e-06 1:39250098 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 missense_variant 4.276553 0.98586 0.9348 0.732398 0.9975717 0 1 TRUE 4.0659e-06 ENSE00001620643_019 ENSE00001620643 019 1 39715641 39715810 + 45 90 35 T C 39715782 1301 142 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCCTCTCCTAATGAATGGCCTCACAATTGTG 39249968 39250138 39250109 39250110 39250110 downstr_intron 7 1.205882 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCCTCTCCTAATGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 2020 1440 0.9977163 0.99453 0.9961231 0.9949663 1 0.976583 0.9655305 NA NA 0.02113322 0.02899948 0.9974832 0.9710568 NA 0.02506635 NA FALSE NA 0.01 0.73 . splice_region_variant&intron_variant LOW MACF1 HGNC 13664 ENST00000361689 3/92 rs201317646 1 NA C:0 C:0.0001 CTT T,C 8.236e-06 1:39250110 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 splice_region_variant 0.954205 0.2951 0.13841 0.099367 0.844831 0.381679 1 TRUE 4.07578e-06 ENSE00001620643_020 ENSE00001620643 020 1 39715641 39715810 + 45 90 35 A T 39715790 1302 150 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTATTGAATGGCCTCACAATTGTG 39249968 39250138 39250117 39250118 39250118 downstr_intron 15 1.441176 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTATTGAATGGCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 1911 3304 0.9995036 0.9988081 0.9991559 0.9949663 1 0.976583 0.9655305 NA NA 0.0229206 0.03327762 0.9974832 0.9710568 NA 0.02809911 NA FALSE NA 0 -0.348 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 3/92 1 NA AAT A,T 8.236e-06 1:39250118 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 non_coding_transcript_exon_variant 0.573448 0.20409 0.11675 0.099367 0.8419723 0.289973 1 TRUE 4.0778e-06 ENSE00001620643_021 ENSE00001620643 021 1 39715641 39715810 + 45 90 35 G T 39715797 1303 157 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGTCCTCACAATTGTG 39249968 39250138 39250124 39250125 39250125 downstr_intron 22 1.647059 ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGTCCTCACAATTGTG ATTCAATATCAAATAAAAATCTGTCTGTTTCACTCTCATTCACAGGTCCGCAAGCACATCAATGATCTTTATGAAGATCTGCGGGATGGCCATAACCTGATCTCTCTGTTGGAGGTCCTCTCAGGCATCAAACTGGTGAGCTTCTCCTAATGAATGGCCTCACAATTGTG mutant NA NA NA NA NA 402 4160 0.9914336 0.9977435 0.9945885 0.9949663 1 0.976583 0.9655305 NA NA 0.01485052 0.03221298 0.9974832 0.9710568 NA 0.02353175 NA FALSE NA 0 -1.729 . intron_variant MODIFIER MACF1 HGNC 13664 ENST00000361689 3/92 1 NA GGC G,T 8.236e-06 1:39250125 MACF1 HGNC Symbol protein_coding 405861 ENSG00000127603 ENSE00003466663 non_coding_transcript_exon_variant 0.4542 0.18375 0.01629 0.088506 0.7757364 0.0957804 1 TRUE 8.1678e-06 ENSE00001620747_003 ENSE00001620747 003 17 10206481 10206650 - 32 96 42 C T 10206493 645 158 TGTGGGCACTGCTGGGGACCTCCTGTGCTTACCGCCTCCTCAGCCTGCCTCTTGTAAGACTTCACTTTGGCCTGCAGCTTGTCCACCAGGTCCTGGAGCCTAAGGATATTCTTGTGGTCCTCCTCAGCCTGCAAACAGAGTACACGTGGCAGGGGCCCGCAAACCTATGG 10303163 10303333 10303175 10303176 10303176 downstr_intron 20 1.645161 CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGGCCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCAGCAGTGCCCACA CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGGCCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA mutant NA NA NA NA NA 62 105 1 1 1 NA NA 0.9926208 0.9858639 NA NA 0.007379183 0.01413613 NA 0.9892423 NA 0.01075766 NA FALSE NA 0 -0.119 . intron_variant MODIFIER MYH13 HGNC 7571 ENST00000418404 38/40 1 NA CCG C,T 8.257e-06 17:10303176 MYH13 HGNC Symbol protein_coding 72265 ENSG00000006788 ENSE00001620747 intron_variant 0.505638 0.13691 0.00721 0.053691 0.7484876 0.0443366 1.88616e-29 FALSE 1.22457e-05 ENSE00001620747_012 ENSE00001620747 012 17 10206481 10206650 - 32 96 42 A G 10206536 654 115 TGTGGGCACTGCCGGGGACCTCCTGTGCTTACCGCCTCCTCAGCCTGCCTCTTGTGAGACTTCACTTTGGCCTGCAGCTTGTCCACCAGGTCCTGGAGCCTAAGGATATTCTTGTGGTCCTCCTCAGCCTGCAAACAGAGTACACGTGGCAGGGGCCCGCAAACCTATGG 10303163 10303333 10303218 10303219 10303219 exon -24 0.7604167 CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGGCCAAAGTGAAGTCTCACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGGCCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA mutant NA NA NA NA NA 401 21 0.9989692 1 0.9994846 NA NA 0.9926208 0.9858639 NA NA 0.006348369 0.01413613 NA 0.9892423 NA 0.01024225 NA FALSE NA 1 9.037 . missense_variant MODERATE MYH13 HGNC 7571 ENST00000418404 38/41 1 deleterious(0.01) probably_damaging(0.998) NA TAA A,G 8.248e-06 17:10303219 MYH13 HGNC Symbol protein_coding 72265 ENSG00000006788 ENSE00001620747 missense_variant 5.447137 0.97307 0.97596 0.487112 0.9978704 0 1.88616e-29 FALSE 4.06134e-06 ENSE00001620747_013 ENSE00001620747 013 17 10206481 10206650 - 32 96 42 C T 10206551 655 100 TGTGGGCACTGCCGGGGACCTCCTGTGCTTACCGCCTCCTCAGCCTGCCTCTTGTAAGACTTCACTTTGGTCTGCAGCTTGTCCACCAGGTCCTGGAGCCTAAGGATATTCTTGTGGTCCTCCTCAGCCTGCAAACAGAGTACACGTGGCAGGGGCCCGCAAACCTATGG 10303163 10303333 10303233 10303234 10303234 exon -39 0.6041667 CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGACCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGGCCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA mutant NA NA NA NA NA 788 2726 0.9992665 0.999942 0.9996043 NA NA 0.9926208 0.9858639 NA NA 0.006645728 0.01407811 NA 0.9892423 NA 0.01036192 NA FALSE NA 0.274 0.194 . missense_variant MODERATE MYH13 HGNC 7571 ENST00000418404 38/41 rs530814088 1 tolerated(0.22) benign(0.092) T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCC C,T 2.474e-05 17:10303234 MYH13 HGNC Symbol protein_coding 72265 ENSG00000006788 ENSE00001620747 missense_variant 2.77405 0.97743 0.35677 0.487112 0.9914373 0 1.88616e-29 FALSE 4.06121e-05 ENSE00001620747_014 ENSE00001620747 014 17 10206481 10206650 - 32 96 42 C T 10206563 656 88 TGTGGGCACTGCCGGGGACCTCCTGTGCTTACCGCCTCCTCAGCCTGCCTCTTGTAAGACTTCACTTTGGCCTGCAGCTTGTTCACCAGGTCCTGGAGCCTAAGGATATTCTTGTGGTCCTCCTCAGCCTGCAAACAGAGTACACGTGGCAGGGGCCCGCAAACCTATGG 10303163 10303333 10303245 10303246 10303246 exon 46 0.4791667 CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGAACAAGCTGCAGGCCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA CCATAGGTTTGCGGGCCCCTGCCACGTGTACTCTGTTTGCAGGCTGAGGAGGACCACAAGAATATCCTTAGGCTCCAGGACCTGGTGGACAAGCTGCAGGCCAAAGTGAAGTCTTACAAGAGGCAGGCTGAGGAGGCGGTAAGCACAGGAGGTCCCCGGCAGTGCCCACA mutant NA NA NA NA NA 16 60 1 0.9742062 0.9871031 NA NA 0.9926208 0.9858639 NA NA 0.007379183 -0.01165766 NA 0.9892423 NA -0.00213924 NA FALSE NA 1 5.857 . missense_variant MODERATE MYH13 HGNC 7571 ENST00000418404 38/41 1 tolerated(0.05) benign(0.007) NA TCC C,T 8.247e-06 17:10303246 MYH13 HGNC Symbol protein_coding 72265 ENSG00000006788 ENSE00001620747 missense_variant 5.038167 0.99216 0.96921 0.487112 0.9990017 0 1.88616e-29 FALSE 8.12275e-06 ENSE00001623528_009 ENSE00001623528 009 2 152727006 152727175 - 39 81 50 T C 152727089 2980 87 GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAGTGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG 151870491 151870661 151870574 151870575 151870575 exon 37 0.4567901 GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAGTGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG mutant NA NA NA NA NA 137 1629 0.791604 0.8008757 0.7962399 0.8364028 0.828021 0.631418 0.6931195 NA NA 0.160186 0.1077563 0.8322119 0.6622687 NA 0.1339712 NA FALSE NA 1 7.969 . missense_variant MODERATE CACNB4 HGNC 1404 ENST00000534999 7/13 rs201870832 1 tolerated(0.07) probably_damaging(0.979) C:0.0014 C:0.0053 C:0 NA C:0 C:0 C:0 C:0.0055 C:0 ATT T,C 0.0006277 2:151870575 CACNB4 HGNC Symbol protein_coding 266707 ENSG00000182389 ENSE00001623528 missense_variant 4.226731 0.99468 0.98432 0.623552 0.9965892 0 0.01136358 FALSE 0.000512004 ENSE00001623528_010 ENSE00001623528 010 2 152727006 152727175 - 39 81 50 C T 152727093 2981 83 GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCATCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG 151870491 151870661 151870578 151870579 151870579 exon 33 0.4074074 GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCATCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG mutant NA NA NA NA NA 465 200 0.9716705 0.949221 0.9604458 0.8364028 0.828021 0.631418 0.6931195 NA NA 0.3402526 0.2561015 0.8322119 0.6622687 NA 0.298177 NA FALSE NA 0.12 -0.71 . synonymous_variant LOW CACNB4 HGNC 1404 ENST00000534999 7/13 rs370926360&COSM716328&COSM716329 1 NA T:0 T:0.0001 ACG C,T 4.129e-05 2:151870579 CACNB4 HGNC Symbol protein_coding 266707 ENSG00000182389 ENSE00001623528 missense_variant 2.52496 0.95193 0.05492 0.615465 0.8075902 0 0.01136358 FALSE 4.06517e-05 ENSE00001623528_015 ENSE00001623528 015 2 152727006 152727175 - 39 81 50 G A 152727124 2986 52 GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGATGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG 151870491 151870661 151870609 151870610 151870610 exon 2 0.02469136 GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGATGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG mutant NA NA NA NA NA 108 89 0.9988512 0.9895181 0.9941846 0.8364028 0.828021 0.631418 0.6931195 NA NA 0.3674332 0.2963986 0.8322119 0.6622687 NA 0.3319159 NA FALSE NA 1 6.731 . missense_variant&splice_region_variant MODERATE CACNB4 HGNC 1404 ENST00000534999 7/13 1 tolerated(0.09) possibly_damaging(0.79) NA CGT G,A 5.779e-05 2:151870610 CACNB4 HGNC Symbol protein_coding 266707 ENSG00000182389 ENSE00001623528 missense_variant 5.354835 0.99353 0.97651 0.615465 0.9980549 0 0.01136358 FALSE 6.94887e-05 ENSE00001632119_002 ENSE00001632119 002 3 49020281 49020450 + 48 84 38 C T 49020299 1126 19 CCAGCCACAGCCCACTCATCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG 48982847 48983017 48982865 48982866 48982866 upstr_intron -30 -0.6041667 CCAGCCACAGCCCACTCATCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG mutant NA NA NA NA NA 21 720 1 1 1 0.9981323 0.9894656 0.9287799 0.9941204 NA NA 0.07122006 0.005879607 0.9937989 0.9614502 NA 0.03854983 NA FALSE NA 0.015 0.694 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 1 NA ACC C,T 8.236e-06 3:48982866 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003635096 non_coding_transcript_exon_variant 2.53121 0.97794 0.26314 0.115753 0.6467757 0.922525 NA NA NA ENSE00001632119_006 ENSE00001632119 006 3 49020281 49020450 + 48 84 38 C A 49020320 1130 40 CCTGCAATATAGAATCCAAGAGGACAGTAGGCACTTACCCCTCTGTCATAGCTGTCTGCACGCTCCACTTTCCATGAGAGGTTTTCGATCTCAGCCTCCAGCTGAGCCTGCTGGTATTCAAACTGTATAGTCAGAGCAGGAGGGTCAAAAGGTGAGTGGGCTGTGGCTGG 48982847 48983017 48982886 48982887 48982887 upstr_intron -9 -0.1666667 CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGACTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG mutant NA NA NA NA NA 261 20 0.8308498 0.8 0.8154249 0.9981323 0.9894656 0.9287799 0.9941204 NA NA -0.09793016 -0.1941204 0.9937989 0.9614502 NA -0.1460253 NA FALSE NA 0.073 0.652 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 1 NA GCC C,A 2.471e-05 3:48982887 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003635096 non_coding_transcript_exon_variant 2.137677 0.40386 0.20303 0.256867 0.7114283 0.430356 NA NA 2.0308e-05 ENSE00001632119_009 ENSE00001632119 009 3 49020281 49020450 + 48 84 38 A G 49020376 1133 96 CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCGTGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG 48982847 48983017 48982942 48982943 48982943 exon -37 0.5714286 CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCGTGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG mutant NA NA NA NA NA 184 216 0.9932691 0.97504 0.9841546 0.9981323 0.9894656 0.9287799 0.9941204 NA NA 0.06448914 -0.01908035 0.9937989 0.9614502 NA 0.02270439 NA FALSE NA 0 -6.421 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 1 NA CAT A,G 1.647e-05 3:48982943 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003635096 synonymous_variant 1.22769 0.16322 0.03838 0.706548 0.6831481 0 NA NA 1.21826e-05 ENSE00001632119_014 ENSE00001632119 014 3 49020281 49020450 + 48 84 38 C T 49020439 1138 159 CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTTTATATTGCAGG 48982847 48983017 48983005 48983006 48983006 downstr_intron 27 1.72973 CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTTTATATTGCAGG CCAGCCACAGCCCACTCACCTTTTGACCCTCCTGCTCTGCCTATACAGTTTGAATACCAGCAGGCTCAGCTGGAGGCTGAGATCGAAAACCTCTCATGGAAAGTGGAGCGTGCAGACAGCTATGACAGAGGGGTAAGTGCCTACTGTCCTCTTGGATTCTATATTGCAGG mutant NA NA NA NA NA 993 1434 1 0.9989044 0.9994522 0.9981323 0.9894656 0.9287799 0.9941204 NA NA 0.07122006 0.004784034 0.9937989 0.9614502 NA 0.03800205 NA FALSE NA 0 -0.147 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 1 NA TCT C,T 8.237e-06 3:48983006 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003635096 intron_variant 0.445725 0.23114 0.06554 0.099367 0.7139372 0.050004 NA NA 4.07126e-06 ENSE00001635067_011 ENSE00001635067 011 16 24817476 24817645 + 51 78 41 G A 24817538 1398 63 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCACAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806216 24806217 24806217 exon 12 0.1538462 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCACAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant 15 13 0.85 0.85 0.85 71 216 0.8954665 0.8882767 0.8918716 0.85 0.85 0.926379 0.9841216 0 -2.220446e-16 -0.03091244 -0.09584495 0.85 0.9552503 -1.110223e-16 -0.06337869 0.06337869 FALSE FALSE 0.967 0.246 . downstream_gene_variant MODIFIER TNRC6A HGNC 11969 ENST00000561726 1 NA CGC G,A 7.413e-05 16:24806217 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 synonymous_variant 1.871511 0.8537 0.75919 0.706548 0.8549749 0 0.9999999 TRUE 7.32279e-05 ENSE00001635067_012 ENSE00001635067 012 16 24817476 24817645 + 51 78 41 A C 24817548 1399 73 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAACGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806226 24806227 24806227 exon 22 0.2820513 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAACGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 872 99 0.9724582 0.9983991 0.9854287 0.85 0.85 0.926379 0.9841216 NA NA 0.04607928 0.0142775 0.85 0.9552503 NA 0.03017839 NA FALSE NA 1 8.111 . downstream_gene_variant MODIFIER TNRC6A HGNC 11969 ENST00000561726 COSM557379 1 NA AAG A,C 8.236e-06 16:24806227 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 synonymous_variant -0.03031 0.97407 0.98289 0.706548 0.8405683 0 0.9999999 TRUE 4.06587e-06 ENSE00001635067_013 ENSE00001635067 013 16 24817476 24817645 + 51 78 41 C T 24817552 1400 77 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGTGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806230 24806231 24806231 exon 26 0.3333333 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGTGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 120 119 0.8623268 0.8592276 0.8607772 0.85 0.85 0.926379 0.9841216 NA NA -0.06405216 -0.124894 0.85 0.9552503 NA -0.09447308 NA FALSE NA 0.991 0.385 . downstream_gene_variant MODIFIER TNRC6A HGNC 11969 ENST00000561726 rs201497215&COSM3280559 1 NA T:0 T:0.0002 GCG C,T 2.471e-05 16:24806231 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 missense_variant 3.527615 0.93844 0.74763 0.706548 0.9956691 0 0.9999999 TRUE 4.47296e-05 ENSE00001635067_014 ENSE00001635067 014 16 24817476 24817645 + 51 78 41 G A 24817553 1401 78 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCACAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806231 24806232 24806232 exon 27 0.3461538 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCACAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant 12 32 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.85 0.926379 0.9841216 0 -1.110223e-16 NA NA 0.85 0.9552503 -5.551115e-17 NA NA NA FALSE 0.998 0.824 rs146019568 downstream_gene_variant MODIFIER TNRC6A HGNC 11969 ENST00000561726 rs146019568 1 NA A:0.0002 A:0 CGC G,A 4.118e-05 16:24806232 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 synonymous_variant 2.124373 0.94781 0.84418 0.706548 0.8895115 0 0.9999999 TRUE 2.4399e-05 ENSE00001635067_019 ENSE00001635067 019 16 24817476 24817645 + 51 78 41 C T 24817583 1406 108 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAATCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806261 24806262 24806262 exon -22 0.7307692 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAATCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant 78 69 0.85 0.85 0.85 472 29 0.9388326 0.8 0.8694163 0.85 0.85 0.926379 0.9841216 0 -1.110223e-16 0.01245364 -0.1841216 0.85 0.9552503 -5.551115e-17 -0.085834 0.085834 FALSE FALSE 1 0.63 . downstream_gene_variant MODIFIER TNRC6A HGNC 11969 ENST00000561726 COSM122099 1 NA ACC C,T 8.236e-06 16:24806262 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 synonymous_variant 1.70523 0.94344 0.72944 0.706548 0.8527915 0 0.9999999 TRUE 8.13584e-06 ENSE00001635067_021 ENSE00001635067 021 16 24817476 24817645 + 51 78 41 G C 24817592 1408 117 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCACCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806270 24806271 24806271 exon -13 0.8461538 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCACCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 54 1225 0.95 0.8215662 0.8857831 0.85 0.85 0.926379 0.9841216 NA NA 0.02362103 -0.1625554 0.85 0.9552503 NA -0.0694672 NA FALSE NA 1 2.283 . downstream_gene_variant MODIFIER TNRC6A HGNC 11969 ENST00000561726 1 NA AGC G,C 8.236e-06 16:24806271 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 missense_variant 5.467597 0.94067 0.9171 0.706548 0.9972289 0 0.9999999 TRUE 4.06865e-06 ENSE00001635067_023 ENSE00001635067 023 16 24817476 24817645 + 51 78 41 C T 24817613 1410 138 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCTGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806291 24806292 24806292 downstr_intron 9 1.225 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCTGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 94 84 0.9506448 0.9333724 0.9420086 0.85 0.85 0.926379 0.9841216 NA NA 0.02426582 -0.05074925 0.85 0.9552503 NA -0.01324172 NA FALSE NA 0 -2.131 . downstream_gene_variant MODIFIER TNRC6A HGNC 11969 ENST00000561726 rs376405412 1 NA T:0 T:0.0002 CCG C,T 2.471e-05 16:24806292 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 intron_variant -0.472067 0.16594 0.04918 0.099367 0.7328953 0.0729172 0.9999999 TRUE 8.15395e-06 ENSE00001635067_025 ENSE00001635067 025 16 24817476 24817645 + 51 78 41 C T 24817625 1412 150 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTTGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806303 24806304 24806304 downstr_intron 21 1.525 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTTGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 318 391 0.8879529 0.9125154 0.9002342 0.85 0.85 0.926379 0.9841216 NA NA -0.03842602 -0.07160621 0.85 0.9552503 NA -0.05501612 NA FALSE NA 0 -0.479 . downstream_gene_variant MODIFIER TNRC6A HGNC 11969 ENST00000561726 rs374163619 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0014 T:0 TCG C,T 0.0001153 16:24806304 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 intron_variant 0.193469 0.0823 0.00631 0.099367 0.7211228 0.0986876 0.9999999 TRUE 9.82423e-05 ENSE00001642477_002 ENSE00001642477 002 18 47367700 47367869 - 35 90 45 C G 47367735 607 135 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGACGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841364 49841365 49841365 exon -1 1 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGACGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 196 126 1 1 1 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.04932436 0.9992751 0.9724643 NA 0.02753567 NA FALSE NA 1 7.6 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 1 NA CCT C,G 2.481e-05 18:49841365 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 missense_variant 6.190042 0.99446 0.98819 0.614807 0.9986551 0 NA NA 1.21895e-05 ENSE00001642477_008 ENSE00001642477 008 18 47367700 47367869 - 35 90 45 G A 47367764 613 106 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTTACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841393 49841394 49841394 exon -30 0.6777778 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTTACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant 30 15 1 1 1 NA NA NA NA NA 0.9985502 1 0.994253 0.9506756 0.001449784 0 NA NA 0.9992751 0.9724643 0.0007248919 NA NA NA FALSE 1 9.591 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 1 NA TGA G,A 8.27e-06 18:49841394 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 missense_variant 6.452369 0.99432 0.99096 0.614807 0.9983948 0 NA NA NA ENSE00001642477_010 ENSE00001642477 010 18 47367700 47367869 - 35 90 45 G A 47367767 615 103 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTTTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841396 49841397 49841397 exon -33 0.6444444 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTTTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 461 170 1 0.9997758 0.9998879 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.04910018 0.9992751 0.9724643 NA 0.02742358 NA FALSE NA 0.998 2.946 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 1 NA AGA G,A 1.654e-05 18:49841397 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 missense_variant 6.609203 0.99018 0.9366 0.614807 0.9990074 0 NA NA 4.0621e-06 ENSE00001642477_015 ENSE00001642477 015 18 47367700 47367869 - 35 90 45 G A 47367773 620 97 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCTGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841402 49841403 49841403 exon -39 0.5777778 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCTGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 269 13 1 1 1 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.04932436 0.9992751 0.9724643 NA 0.02753567 NA FALSE NA 1 9.591 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 1 NA CGG G,A 8.268e-06 18:49841403 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 missense_variant 8.134101 0.99432 0.99096 0.614807 0.9992295 0 NA NA 2.43722e-05 ENSE00001642477_016 ENSE00001642477 016 18 47367700 47367869 - 35 90 45 T C 47367781 621 89 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAGCACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841410 49841411 49841411 exon 44 0.4888889 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAGCACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 44 17 0.9882073 1 0.9941037 0.9985502 1 0.994253 0.9506756 NA NA -0.006045681 0.04932436 0.9992751 0.9724643 NA 0.02163934 NA FALSE NA 1 7.815 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 rs573278576 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTT T,C 1.653e-05 18:49841411 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 missense_variant 3.518447 0.99217 0.98254 0.614807 0.9989555 0 NA NA 1.6247e-05 ENSE00001642477_020 ENSE00001642477 020 18 47367700 47367869 - 35 90 45 T C 47367795 625 75 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCGTTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841424 49841425 49841425 exon 30 0.3333333 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCGTTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 53 399 1 1 1 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.04932436 0.9992751 0.9724643 NA 0.02753567 NA FALSE NA 0 -3.363 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 rs370422286 1 NA C:0.0002 C:0 ATG T,C 1.653e-05 18:49841425 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 synonymous_variant 0.475846 0.10741 0.03232 0.615465 0.4706902 0 NA NA 8.12269e-06 ENSE00001642477_021 ENSE00001642477 021 18 47367700 47367869 - 35 90 45 C T 47367798 626 72 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACATCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841427 49841428 49841428 exon 27 0.3 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACATCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 11 498 1 0.9990777 0.9995388 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.04840202 0.9992751 0.9724643 NA 0.0270745 NA FALSE NA 0 -7.677 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 COSM1388946 1 NA ACG C,T 2.48e-05 18:49841428 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 synonymous_variant 2.395735 0.11708 0.00885 0.615465 0.5431018 0 NA NA 4.06151e-05 ENSE00001642477_023 ENSE00001642477 023 18 47367700 47367869 - 35 90 45 C A 47367804 628 66 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGATATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841433 49841434 49841434 exon 21 0.2333333 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGATATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 83 247 1 0.9874822 0.9937411 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.03680654 0.9992751 0.9724643 NA 0.02127676 NA FALSE NA 1 2.053 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 1 NA TCT C,A 8.267e-06 18:49841434 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 missense_variant 3.772962 0.98364 0.93619 0.615465 0.9956813 0 NA NA 4.06141e-06 ENSE00001642477_027 ENSE00001642477 027 18 47367700 47367869 - 35 90 45 T G 47367823 632 47 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGACGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841452 49841453 49841453 exon 2 0.02222222 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGACGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 127 74 0.9926457 0.9978568 0.9952512 0.9985502 1 0.994253 0.9506756 NA NA -0.001607333 0.04718111 0.9992751 0.9724643 NA 0.02278689 NA FALSE NA 1 4.934 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 1 NA CTT T,G 1.653e-05 18:49841453 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 missense_variant 5.979755 0.99219 0.97399 0.615465 0.9982415 0 NA NA 8.12321e-06 ENSE00001642477_030 ENSE00001642477 030 18 47367700 47367869 - 35 90 45 A T 47367837 635 33 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTATTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841466 49841467 49841467 upstr_intron -13 -0.2666667 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTATTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 38 12 1 1 1 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.04932436 0.9992751 0.9724643 NA 0.02753567 NA FALSE NA 0.003 1.837 . intron_variant&non_coding_transcript_variant MODIFIER SCARNA17 Clone_based_vega_gene 32574 ENST00000589499 3/3 1 NA AAA A,T 8.267e-06 18:49841467 SNHG22 HGNC Symbol antisense 37036 ENSG00000267322 ENSE00001642477 intron_variant -0.09494 0.23062 0.1548 0.065574 0.5295927 0.0531458 NA NA 8.12374e-06 ENSE00001644164_001 ENSE00001644164 001 12 50532296 50532465 - 54 51 65 A T 50532307 1522 159 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTAAAAGGTGGAGTG 50138512 50138682 50138523 50138524 50138524 downstr_intron 43 1.811321 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTAAAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant NA NA NA NA NA 56 222 0.8 0.8189832 0.8094916 0.8444872 0.85 0.79846 0.8052723 NA NA 0.001540028 0.01371095 0.8472436 0.8018661 NA 0.00762549 NA FALSE NA 0.004 0.729 . intron_variant&NMD_transcript_variant MODIFIER CERS5 HGNC 23749 ENST00000551697 5/11 1 NA TAT A,T 8.236e-06 12:50138524 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 intron_variant 0.308484 0.21169 0.02048 0.156188 0.7655339 0.0989932 1.310677e-05 FALSE 4.06128e-06 ENSE00001644164_002 ENSE00001644164 002 12 50532296 50532465 - 54 51 65 C A 50532316 1523 150 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTTAATGTGTATAAGGTGGAGTG 50138512 50138682 50138532 50138533 50138533 downstr_intron 34 1.641509 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTTAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant NA NA NA NA NA 16 62 0.8 0.8160437 0.8080218 0.8444872 0.85 0.79846 0.8052723 NA NA 0.001540028 0.01077137 0.8472436 0.8018661 NA 0.006155697 NA FALSE NA 0 0.624 . intron_variant&NMD_transcript_variant MODIFIER CERS5 HGNC 23749 ENST00000551697 5/11 1 NA TCA C,A 8.236e-06 12:50138533 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 intron_variant 0.250211 0.31537 0.2268 0.156188 0.7058361 0.0989932 1.310677e-05 FALSE 4.06111e-06 ENSE00001644164_003 ENSE00001644164 003 12 50532296 50532465 - 54 51 65 A G 50532320 1524 146 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGCCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138536 50138537 50138537 downstr_intron 30 1.566038 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGCCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant NA NA NA NA NA 58 58 0.9042154 0.8 0.8521077 0.8444872 0.85 0.79846 0.8052723 NA NA 0.1057554 -0.005272286 0.8472436 0.8018661 NA 0.05024157 NA FALSE NA 0 -0.503 . intron_variant&NMD_transcript_variant MODIFIER CERS5 HGNC 23749 ENST00000551697 5/11 1 NA GAC A,G 1.647e-05 12:50138537 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 intron_variant 0.075527 0.11776 0.00125 0.156188 0.5375383 0.0989932 1.310677e-05 FALSE 1.62434e-05 ENSE00001644164_004 ENSE00001644164 004 12 50532296 50532465 - 54 51 65 C A 50532328 1525 138 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGTATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138544 50138545 50138545 downstr_intron 22 1.415094 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGTATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant 10 19 0.85 0.85 0.85 791 258 0.7534984 0.8142885 0.7838934 0.8444872 0.85 0.79846 0.8052723 0.005512775 0 -0.04496155 0.009016193 0.8472436 0.8018661 0.002756388 -0.01797268 0.02072907 FALSE FALSE 0.002 -0.099 . intron_variant&NMD_transcript_variant MODIFIER CERS5 HGNC 23749 ENST00000551697 5/11 1 NA TCC C,A 8.236e-06 12:50138545 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 intron_variant 0.573088 0.31256 0.10658 0.156188 0.7063532 0.0989932 1.310677e-05 FALSE 8.12196e-06 ENSE00001644164_005 ENSE00001644164 005 12 50532296 50532465 - 54 51 65 C T 50532335 1526 131 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCATTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138551 50138552 50138552 downstr_intron 15 1.283019 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCATTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant NA NA NA NA NA 49 60 0.8 0.808357 0.8041785 0.8444872 0.85 0.79846 0.8052723 NA NA 0.001540028 0.003084733 0.8472436 0.8018661 NA 0.00231238 NA FALSE NA 0.001 -0.645 . intron_variant&NMD_transcript_variant MODIFIER CERS5 HGNC 23749 ENST00000551697 5/11 1 NA ACG C,T 4.118e-05 12:50138552 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 intron_variant 0.195774 0.20194 0.02055 0.295142 0.7110487 0.0989932 1.310677e-05 FALSE 3.65494e-05 ENSE00001644164_006 ENSE00001644164 006 12 50532296 50532465 - 54 51 65 G A 50532336 1527 130 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTTGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138552 50138553 50138553 downstr_intron 14 1.264151 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTTGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant NA NA NA NA NA 33 324 0.7384222 0.8015587 0.7699905 0.8444872 0.85 0.79846 0.8052723 NA NA -0.06003775 -0.003713586 0.8472436 0.8018661 NA -0.03187567 NA FALSE NA 0 -0.82 . intron_variant&NMD_transcript_variant MODIFIER CERS5 HGNC 23749 ENST00000551697 5/11 rs375281139 1 NA A:0 A:0.0001 CGA G,A 1.647e-05 12:50138553 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 intron_variant 0.108081 0.21228 0.04778 0.295142 0.6933213 0.0989932 1.310677e-05 FALSE 2.03057e-05 ENSE00001644164_009 ENSE00001644164 009 12 50532296 50532465 - 54 51 65 T C 50532366 1530 100 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCGTAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138582 50138583 50138583 exon -17 0.6862745 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCGTAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant NA NA NA NA NA 144 112 0.9494527 0.9491976 0.9493252 0.8444872 0.85 0.79846 0.8052723 NA NA 0.1509928 0.1439254 0.8472436 0.8018661 NA 0.1474591 NA FALSE NA 1 3.346 rs142303472 missense_variant&NMD_transcript_variant MODERATE CERS5 HGNC 23749 ENST00000551697 5/12 rs142303472 1 tolerated(0.45) benign(0.003) NA C:0.0005 C:0 ATG T,C 1.647e-05 12:50138583 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 missense_variant 1.366638 0.98893 0.97482 0.706548 0.854128 0 1.310677e-05 FALSE 2.03042e-05 ENSE00001644164_013 ENSE00001644164 013 12 50532296 50532465 - 54 51 65 G A 50532383 1534 83 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGATATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138599 50138600 50138600 exon 18 0.3529412 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGATATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant 26 43 0 0 0 NA NA NA NA NA 0.8444872 0.85 0.79846 0.8052723 -0.8444872 -0.85 NA NA 0.8472436 0.8018661 -0.8472436 NA NA NA TRUE 1 0.836 . synonymous_variant&NMD_transcript_variant LOW CERS5 HGNC 23749 ENST00000551697 5/12 1 NA TGT G,A 8.236e-06 12:50138600 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 missense_variant 1.060091 0.97653 0.92306 0.706548 0.9980258 0 1.310677e-05 FALSE 4.06105e-06 ENSE00001644164_014 ENSE00001644164 014 12 50532296 50532465 - 54 51 65 C T 50532385 1535 81 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGAACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138601 50138602 50138602 exon 16 0.3137255 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGAACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant 11 18 0.85 0.85 0.85 NA NA NA NA NA 0.8444872 0.85 0.79846 0.8052723 0.005512775 0 NA NA 0.8472436 0.8018661 0.002756388 NA NA NA FALSE 1 2.558 . missense_variant&NMD_transcript_variant MODERATE CERS5 HGNC 23749 ENST00000551697 5/12 1 tolerated(0.17) benign(0.399) NA TCC C,T 8.236e-06 12:50138602 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 missense_variant 6.022468 0.99517 0.97795 0.706548 0.9987423 0 1.310677e-05 FALSE 2.03052e-05 ENSE00001644164_015 ENSE00001644164 015 12 50532296 50532465 - 54 51 65 A T 50532395 1536 71 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCATGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138611 50138612 50138612 exon 6 0.1176471 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCATGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant NA NA NA NA NA 168 117 0.832128 0.7831068 0.8076174 0.8444872 0.85 0.79846 0.8052723 NA NA 0.03366804 -0.0221655 0.8472436 0.8018661 NA 0.005751269 NA FALSE NA 0.937 0.205 . synonymous_variant&NMD_transcript_variant LOW CERS5 HGNC 23749 ENST00000551697 5/12 1 NA AAG A,T 8.236e-06 12:50138612 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 missense_variant 0.015056 0.97209 0.84251 0.706548 0.982173 0 1.310677e-05 FALSE 4.06108e-06 ENSE00001644164_016 ENSE00001644164 016 12 50532296 50532465 - 54 51 65 A C 50532413 1537 53 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCGGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138629 50138630 50138630 upstr_intron -13 -0.1846154 TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCGGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant 23 13 0 0 0 NA NA NA NA NA 0.8444872 0.85 0.79846 0.8052723 -0.8444872 -0.85 NA NA 0.8472436 0.8018661 -0.8472436 NA NA NA TRUE 0.036 2.851 . intron_variant&NMD_transcript_variant MODIFIER CERS5 HGNC 23749 ENST00000551697 4/11 1 NA CAG A,C 4.118e-05 12:50138630 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 intron_variant 2.157876 0.86648 0.59264 0.099367 0.9146063 0.384121 1.310677e-05 FALSE 3.24929e-05 ENSE00001644164_024 ENSE00001644164 024 12 50532296 50532465 - 54 51 65 C G 50532452 1545 14 TGAGGTAGATCTTCAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG 50138512 50138682 50138668 50138669 50138669 upstr_intron -52 -0.7846154 TGAGGTAGATCTTCAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG TGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAGTCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAGGTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTG mutant NA NA NA NA NA 453 91 0.8 0.8 0.8 0.8444872 0.85 0.79846 0.8052723 NA NA 0.001540028 -0.005272286 0.8472436 0.8018661 NA -0.001866129 NA FALSE NA 0.009 0.278 . intron_variant&NMD_transcript_variant MODIFIER CERS5 HGNC 23749 ENST00000551697 4/11 1 NA TCA C,G 8.236e-06 12:50138669 CERS5 HGNC Symbol protein_coding 38227 ENSG00000139624 ENSE00003697975 intron_variant 0.377672 0.26076 0.23312 0.099367 0.6625629 0.176339 1.310677e-05 FALSE 4.06375e-06 ENSE00001645667_001 ENSE00001645667 001 3 49019037 49019206 + 56 69 45 A G 49019051 1103 15 GATGCAGGTAGCTTGGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG 48981603 48981773 48981617 48981618 48981618 upstr_intron -42 -0.7321429 GATGCAGGTAGCTTGGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 275 382 0.8648036 0.8 0.8324018 0.8431378 0.8500042 0.8214457 0.6314064 NA NA 0.04335788 0.1685936 0.846571 0.7264261 NA 0.1059757 NA FALSE NA 0.001 0.572 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 1 NA TAG A,G 8.236e-06 3:48981618 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 intron_variant 1.012363 0.22862 0.07026 0.295142 0.7534954 0.0881448 NA NA 4.18508e-06 ENSE00001645667_004 ENSE00001645667 004 3 49019037 49019206 + 56 69 45 G C 49019066 1106 30 CCTTTGAGGCTAACGGGACAGAGTAGAAAAATTGCTTTGCCTTACCAGCTTCTTCCTGGGTCCGGACTCCATGTAATATGCATATGGGTAGGTGTATTGCAGGGTGTATCGACACTGCAACAGGAGAGAAGAGAAGGAACGTGTGTCTGTGATTCTAAGCTACCTGCATC 48981603 48981773 48981632 48981633 48981633 upstr_intron -27 -0.4642857 GATGCAGGTAGCTTAGAATCACAGACACACGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 400 347 0.7946851 0.8078446 0.8012649 0.8431378 0.8500042 0.8214457 0.6314064 NA NA -0.02676058 0.1764382 0.846571 0.7264261 NA 0.07483879 NA FALSE NA 0 -0.184 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 1 NA AGG G,C 2.471e-05 3:48981633 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 intron_variant -0.270609 0.224 0.04432 0.295142 0.5999468 0.0881448 NA NA 1.65363e-05 ENSE00001645667_007 ENSE00001645667 007 3 49019037 49019206 + 56 69 45 A G 49019110 1109 74 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAGTACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG 48981603 48981773 48981676 48981677 48981677 exon 18 0.2608696 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAGTACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 989 23 0.938971 0.849602 0.8942865 0.8431378 0.8500042 0.8214457 0.6314064 NA NA 0.1175252 0.2181955 0.846571 0.7264261 NA 0.1678604 NA FALSE NA 0.979 0.123 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 rs369819340 1 NA G:0.0002 G:0 AAT A,G 1.647e-05 3:48981677 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 synonymous_variant 0.364396 0.72209 0.15514 0.706548 0.6330773 0 NA NA 1.21853e-05 ENSE00001645667_008 ENSE00001645667 008 3 49019037 49019206 + 56 69 45 A G 49019128 1110 92 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCGTATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG 48981603 48981773 48981694 48981695 48981695 exon -34 0.5217391 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCGTATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 762 539 0.8947939 0.8911779 0.8929859 0.8431378 0.8500042 0.8214457 0.6314064 NA NA 0.07334818 0.2597714 0.846571 0.7264261 NA 0.1665598 NA FALSE NA 0.05 -0.623 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 rs374375086 1 NA G:0 G:0.0001 CAT A,G 1.647e-05 3:48981695 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 synonymous_variant 1.505537 0.96547 0.29936 0.706548 0.737967 0 NA NA 1.21855e-05 ENSE00001645667_009 ENSE00001645667 009 3 49019037 49019206 + 56 69 45 C T 49019134 1111 98 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTATATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG 48981603 48981773 48981700 48981701 48981701 exon -28 0.6086957 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTATATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 102 281 0.05946603 0.001140154 0.03030309 0.8431378 0.8500042 0.8214457 0.6314064 NA NA -0.7619797 -0.6302663 0.846571 0.7264261 NA -0.696123 NA TRUE NA 1 7.19 rs150167117 intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 rs150167117 1 T:0.0006 T:0.0023 T:0 NA T:0 T:0 T:0 T:0.0014 T:0 ACA C,T 0.0001647 3:48981701 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 synonymous_variant 1.468791 0.99519 0.99401 0.706548 0.8950619 0 NA NA 0.000166535 ENSE00001645667_013 ENSE00001645667 013 3 49019037 49019206 + 56 69 45 C T 49019147 1115 111 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGATCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG 48981603 48981773 48981713 48981714 48981714 exon -15 0.7971014 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGATCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 165 117 0.8364585 0.8 0.8182293 0.8431378 0.8500042 0.8214457 0.6314064 NA NA 0.01501282 0.1685936 0.846571 0.7264261 NA 0.09180318 NA FALSE NA 1 7.19 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 1 NA ACC C,T 8.236e-06 3:48981714 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 missense_variant 4.198913 0.99519 0.99401 0.706548 0.9956047 0 NA NA 4.06204e-06 ENSE00001645667_014 ENSE00001645667 014 3 49019037 49019206 + 56 69 45 G A 49019152 1116 116 CCTTTGAGGCTAACGGGACAGAGTAGAAAAATTGCTTTGCCTTACCAGCTTCTTTCTGGGTCCGGACTCCATGTAATATGCATATGGGTAGGTGTATTGCAGGGTGTATCGACACTGCAACAGGAGAGAAGAGAAGGAACCTGTGTCTGTGATTCTAAGCTACCTGCATC 48981603 48981773 48981718 48981719 48981719 exon -10 0.8695652 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGAAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 39 338 0 0.001898452 0.000949226 0.8431378 0.8500042 0.8214457 0.6314064 NA NA -0.8214457 -0.629508 0.846571 0.7264261 NA -0.7254769 NA TRUE NA 1 3.801 rs143568355 intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 rs143568355 1 NA A:0 A:0.0002 GGA G,A 7.413e-05 3:48981719 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 synonymous_variant 1.36106 0.98009 0.9459 0.706548 0.8209915 0 NA NA 6.49989e-05 ENSE00001645667_017 ENSE00001645667 017 3 49019037 49019206 + 56 69 45 C T 49019181 1119 145 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTTTACTCTGTCCCGTTAGCCTCAAAGG 48981603 48981773 48981747 48981748 48981748 downstr_intron 20 1.454545 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTTTACTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 381 11 0.8004228 0.6398794 0.7201511 0.8431378 0.8500042 0.8214457 0.6314064 NA NA -0.02102288 0.008472904 0.846571 0.7264261 NA -0.00627499 NA FALSE NA 0 -0.28 . intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 1 NA TCT C,T 8.236e-06 3:48981748 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 intron_variant 0.388769 0.23216 0.08745 0.099367 0.4743881 0.0482677 NA NA NA ENSE00001645667_022 ENSE00001645667 022 3 49019037 49019206 + 56 69 45 G A 49019193 1124 157 CCTTTGAGGCTAATGGGACAGAGTAGAAAAATTGCTTTGCCTTACCAGCTTCTTCCTGGGTCCGGACTCCATGTAATATGCATATGGGTAGGTGTATTGCAGGGTGTATCGACACTGCAACAGGAGAGAAGAGAAGGAACCTGTGTCTGTGATTCTAAGCTACCTGCATC 48981603 48981773 48981759 48981760 48981760 downstr_intron 32 1.727273 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCATTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 456 137 0.9966059 0.8 0.898303 0.8431378 0.8500042 0.8214457 0.6314064 NA NA 0.1751602 0.1685936 0.846571 0.7264261 NA 0.1718769 NA FALSE NA 0 -0.046 rs113322395 intron_variant&non_coding_transcript_variant MODIFIER RP13-131K19.1 Clone_based_vega_gene NA ENST00000415982 1/1 rs113322395 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0023 A:0.0003 CGT G,A 0.0002059 3:48981760 AC137630.2 Clone-based (Ensembl) gene antisense 4067 ENSG00000235236 ENSE00003503384 intron_variant -0.233932 0.1998 0.11189 0.099367 0.5432048 0.0482677 NA NA 0.00014265 ENSE00001647173_005 ENSE00001647173 005 11 5718436 5718605 + 42 96 32 T C 5718469 248 34 CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAGAGATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697238 5697239 5697239 upstr_intron -9 -0.1904762 GAAAGCTCATAACTTTACTCTGGTATAATTTATCTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant 16 25 0.9981526 0.85 0.9240763 60 11 1 0.9358828 0.9679414 0.9900927 0.9779144 0.9114513 0.9543364 0.008059849 -0.1279144 0.08854874 -0.01845359 0.9840036 0.9328938 -0.05992727 0.03504757 0.09497484 FALSE FALSE 0 -0.147 . intron_variant&non_coding_transcript_variant MODIFIER TRIM22 HGNC 16379 ENST00000480395 1/5 1 NA TTT T,C 8.276e-05 11:5697239 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 intron_variant 0.183192 0.3292 0.1245 0.283894 0.7844139 0.624375 3.156222e-12 FALSE 6.56191e-05 ENSE00001647173_006 ENSE00001647173 006 11 5718436 5718605 + 42 96 32 C T 5718471 249 36 CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAAAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697240 5697241 5697241 upstr_intron -7 -0.1428571 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTTTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant NA NA NA NA NA 88 133 1 1 1 0.9900927 0.9779144 0.9114513 0.9543364 NA NA 0.08854874 0.04566357 0.9840036 0.9328938 NA 0.06710615 NA FALSE NA 0 -0.103 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TRIM22 HGNC 16379 ENST00000480395 1/5 1 NA TCT C,T 8.276e-06 11:5697241 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 splice_region_variant 0.240882 0.18677 0.11186 0.283894 0.5912005 0.10231 3.156222e-12 FALSE 4.3518e-06 ENSE00001647173_009 ENSE00001647173 009 11 5718436 5718605 + 42 96 32 G A 5718478 252 43 CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTTCTGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697247 5697248 5697248 exon 1 0.01041667 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGAAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant NA NA NA NA NA 85 31 1 1 1 0.9900927 0.9779144 0.9114513 0.9543364 NA NA 0.08854874 0.04566357 0.9840036 0.9328938 NA 0.06710615 NA FALSE NA 0.994 0.983 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW TRIM22 HGNC 16379 ENST00000480395 2/6 1 NA GGA G,A 8.277e-06 11:5697248 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 missense_variant 3.151688 0.82811 0.5912 0.706548 0.9691354 0 3.156222e-12 FALSE 4.25445e-06 ENSE00001647173_016 ENSE00001647173 016 11 5718436 5718605 + 42 96 32 T A 5718509 259 74 CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTTTCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697278 5697279 5697279 exon 32 0.3333333 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGAAAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant NA NA NA NA NA 12 51 0.8212133 1 0.9106066 0.9900927 0.9779144 0.9114513 0.9543364 NA NA -0.090238 0.04566357 0.9840036 0.9328938 NA -0.02228721 NA FALSE NA 0 -3.604 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM22 HGNC 16379 ENST00000480395 2/6 rs375795798 1 NA A:0 A:0.0001 ATA T,A 8.272e-06 11:5697279 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 missense_variant -2.766341 0.06849 0.02311 0.706548 0.5040503 0 3.156222e-12 FALSE 8.16273e-06 ENSE00001647173_022 ENSE00001647173 022 11 5718436 5718605 + 42 96 32 C T 5718575 265 140 CTAATTATCCCTTAGGAGGTGTCTCCTCCTACCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697344 5697345 5697345 downstr_intron 2 1.064516 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGTAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant NA NA NA NA NA 282 1114 0.9997078 0.9871125 0.9934102 0.9900927 0.9779144 0.9114513 0.9543364 NA NA 0.0882565 0.03277612 0.9840036 0.9328938 NA 0.06051631 NA FALSE NA 0.091 -0.366 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM22 HGNC 16379 ENST00000480395 2/6 rs145950369 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCA C,T 8.272e-06 11:5697345 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 splice_donor_variant 0.790262 0.3402 0.06273 0.283894 0.7198063 0.105909 3.156222e-12 FALSE NA ENSE00001647173_023 ENSE00001647173 023 11 5718436 5718605 + 42 96 32 G C 5718581 266 146 CTAATTATCCCTTAGGAGGTGTCTGCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697350 5697351 5697351 downstr_intron 8 1.258065 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGCAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant NA NA NA NA NA 13 448 1 0.9794798 0.9897399 0.9900927 0.9779144 0.9114513 0.9543364 NA NA 0.08854874 0.02514333 0.9840036 0.9328938 NA 0.05684603 NA FALSE NA 0 -1.423 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM22 HGNC 16379 ENST00000480395 2/6 1 NA GGA G,C 8.272e-06 11:5697351 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 splice_region_variant 0.13961 0.15516 0.06264 0.295142 0.7249574 0.0923261 3.156222e-12 FALSE 1.6655e-05 ENSE00001647173_024 ENSE00001647173 024 11 5718436 5718605 + 42 96 32 C T 5718587 267 152 CTAATTATCCCTTAGGAGATGTCTCCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697356 5697357 5697357 downstr_intron 14 1.451613 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACATCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant NA NA NA NA NA 23 239 1 1 1 0.9900927 0.9779144 0.9114513 0.9543364 NA NA 0.08854874 0.04566357 0.9840036 0.9328938 NA 0.06710615 NA FALSE NA 0 -1.094 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM22 HGNC 16379 ENST00000480395 2/6 1 NA ACC C,T 8.273e-06 11:5697357 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 non_coding_transcript_exon_variant 0.819329 0.14493 0.06105 0.295142 0.7505393 0.0544315 3.156222e-12 FALSE 1.26749e-05 ENSE00001660309_007 ENSE00001660309 007 12 54799603 54799772 - 51 57 62 T C 54799670 1900 103 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAGCTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405885 54405886 54405886 exon -17 0.7192982 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAGCTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 403 1206 0.8331512 0.9460548 0.889603 0.85 0.7774072 0.8619929 0.7855596 NA NA -0.02884166 0.1604952 0.8137036 0.8237762 NA 0.06582679 NA FALSE NA 1 6.462 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 1 NA GTT T,C 8.236e-06 12:54405886 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 missense_variant 2.59319 0.96551 0.96554 0.67177 0.9986449 0 0.9997981 TRUE 4.06118e-06 ENSE00001660309_008 ENSE00001660309 008 12 54799603 54799772 - 51 57 62 G A 54799677 1901 96 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCTTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405892 54405893 54405893 exon -24 0.5964912 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCTTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 148 1360 0.9833112 0.9672177 0.9752645 0.85 0.7774072 0.8619929 0.7855596 NA NA 0.1213183 0.1816582 0.8137036 0.8237762 NA 0.1514882 NA FALSE NA 1 1.38 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 rs564976660 1 A:0.0002 A:0 A:0.0014 NA A:0 A:0 A:0 AGG G,A 8.236e-06 12:54405893 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 missense_variant 2.901185 0.94162 0.84495 0.67177 0.9989657 0 0.9997981 TRUE 4.06114e-06 ENSE00001660309_009 ENSE00001660309 009 12 54799603 54799772 - 51 57 62 C T 54799682 1902 91 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCAATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405897 54405898 54405898 exon -29 0.5087719 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCAATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant 14 15 0 0 0 32 185 0 0.003727837 0.001863919 0.85 0.7774072 0.8619929 0.7855596 -0.85 -0.7774072 -0.8619929 -0.7818318 0.8137036 0.8237762 -0.8137036 -0.8219123 0.00820872 TRUE TRUE 0 -0.605 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 rs200642938 1 T:0.0100 T:0 T:0 NA T:0 T:0 T:0.0511 TCG C,T 0.006639 12:54405898 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 missense_variant 2.224439 0.45017 0.09942 0.67177 0.9045886 0 0.9997981 TRUE 0.00601084 ENSE00001660309_012 ENSE00001660309 012 12 54799603 54799772 - 51 57 62 C G 54799710 1905 63 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGCTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405925 54405926 54405926 exon 1 0.01754386 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGCTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 150 676 0 0 0 0.85 0.7774072 0.8619929 0.7855596 NA NA -0.8619929 -0.7855596 0.8137036 0.8237762 NA -0.8237762 NA TRUE NA 1 6.285 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 COSM694651 1 NA ACC C,G 8.236e-06 12:54405926 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 missense_variant 4.534217 0.97255 0.97125 0.67177 0.9978323 0 0.9997981 TRUE 4.06095e-06 ENSE00001660309_013 ENSE00001660309 013 12 54799603 54799772 - 51 57 62 G A 54799723 1906 50 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTTTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405938 54405939 54405939 upstr_intron -13 -0.1935484 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTTTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 121 59 0.983617 0.9973099 0.9904635 0.85 0.7774072 0.8619929 0.7855596 NA NA 0.1216241 0.2117503 0.8137036 0.8237762 NA 0.1666872 NA FALSE NA 0.956 1.45 rs141334360 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 rs141334360 1 A:0.0008 A:0 A:0 NA A:0.004 A:0 A:0 AGA G,A 0.0002389 12:54405939 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant 2.606563 0.95291 0.77077 0.115753 0.8950918 0.971172 0.9997981 TRUE 0.000251797 ENSE00001660309_016 ENSE00001660309 016 12 54799603 54799772 - 51 57 62 A C 54799734 1909 39 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAAGGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405949 54405950 54405950 upstr_intron -24 -0.3709677 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAAGGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 23 432 0 0.000741073 0.0003705365 0.85 0.7774072 0.8619929 0.7855596 NA NA -0.8619929 -0.7848185 0.8137036 0.8237762 NA -0.8234057 NA TRUE NA 0.002 0.095 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 1 NA CAT A,C 8.236e-06 12:54405950 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant 2.187545 0.57715 0.42577 0.115753 0.9226169 0.199539 0.9997981 TRUE 4.06177e-06 ENSE00001660309_017 ENSE00001660309 017 12 54799603 54799772 - 51 57 62 G A 54799737 1910 36 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACTAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405952 54405953 54405953 upstr_intron -27 -0.4193548 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACTAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 585 51 0.9933853 1 0.9966926 0.85 0.7774072 0.8619929 0.7855596 NA NA 0.1313924 0.2144404 0.8137036 0.8237762 NA 0.1729164 NA FALSE NA 0.01 1.29 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 1 NA TGG G,A 8.236e-06 12:54405953 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant 2.149962 0.85124 0.78511 0.115753 0.8430236 0.276654 0.9997981 TRUE 8.1244e-06 ENSE00001660309_018 ENSE00001660309 018 12 54799603 54799772 - 51 57 62 C G 54799741 1911 32 TTCTTTAACCATGGGATATTCTGGGAGTCCACGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405956 54405957 54405957 upstr_intron -31 -0.483871 TTCTTTAACCATGGGATATTCTGGGAGTCCACGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 481 26 0.9501894 0.95 0.9500947 0.85 0.7774072 0.8619929 0.7855596 NA NA 0.08819649 0.1644404 0.8137036 0.8237762 NA 0.1263185 NA FALSE NA 0 -0.273 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 1 NA CCT C,G 8.236e-06 12:54405957 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant 1.615165 0.31448 0.26538 0.115753 0.7738381 0.199539 0.9997981 TRUE 4.0625e-06 ENSE00001660309_019 ENSE00001660309 019 12 54799603 54799772 - 51 57 62 C A 54799750 1912 23 TTCTTTAACCATGGGATATTCTTGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405965 54405966 54405966 upstr_intron -40 -0.6290323 TTCTTTAACCATGGGATATTCTTGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant 30 85 0.8315103 0.85 0.8407551 87 872 0.9880648 0.9461626 0.9671137 0.85 0.7774072 0.8619929 0.7855596 -0.01848973 0.07259279 0.1260719 0.160603 0.8137036 0.8237762 0.02705153 0.1433375 0.1162859 FALSE FALSE 0 0.435 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 1 NA CCA C,A 8.236e-06 12:54405966 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant 0.2933 0.23403 0.15857 0.115753 0.7467339 0.0773611 0.9997981 TRUE 4.06554e-06 ENSE00001660309_021 ENSE00001660309 021 12 54799603 54799772 - 51 57 62 A C 54799754 1914 19 TTCTTTAACCATGGGATAGTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405969 54405970 54405970 upstr_intron -44 -0.6935484 TTCTTTAACCATGGGATAGTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 1065 1494 0.7979986 0.8030703 0.8005344 0.85 0.7774072 0.8619929 0.7855596 NA NA -0.06399427 0.01751067 0.8137036 0.8237762 NA -0.0232418 NA FALSE NA 0 -1.898 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 rs530392441 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 AAT A,C 8.236e-06 12:54405970 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant -0.430985 0.15225 0.02157 0.115753 0.4433725 0.0483959 0.9997981 TRUE 4.06583e-06 ENSE00001660309_022 ENSE00001660309 022 12 54799603 54799772 - 51 57 62 C G 54799760 1915 13 TTCTTTAACCATCGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405975 54405976 54405976 upstr_intron -50 -0.7903226 TTCTTTAACCATCGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 227 79 0.8 0.8 0.8 0.85 0.7774072 0.8619929 0.7855596 NA NA -0.06199289 0.01444041 0.8137036 0.8237762 NA -0.02377624 NA FALSE NA 0.01 1.023 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ITGA5 HGNC 6141 ENST00000552564 1/17 1 NA CCA C,G 8.236e-06 12:54405976 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant -0.02779 0.31018 0.33827 0.115753 0.4767188 0.0483959 0.9997981 TRUE 8.13776e-06 ENSE00001670105_001 ENSE00001670105 001 11 77614547 77614716 - 39 81 50 A T 77614579 2207 138 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCATATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903532 77903533 77903533 downstr_intron 7 1.184211 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCATATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 236 103 0.9170373 0.9809696 0.9490034 0.9929816 0.9661661 0.9967339 0.9942603 NA NA -0.07969661 -0.01329073 0.9795738 0.9954971 NA -0.04649367 NA FALSE NA 0.391 0.629 . splice_region_variant&intron_variant&NMD_transcript_variant LOW INTS4 HGNC 25048 ENST00000433818 18/23 rs545738228 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 AAG A,T 8.237e-06 11:77903533 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 splice_region_variant 0.889835 0.23651 0.01355 0.156188 0.9051133 0.312774 0.6530713 FALSE 1.22091e-05 ENSE00001670105_002 ENSE00001670105 002 11 77614547 77614716 - 39 81 50 T C 77614582 2208 135 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAGGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903535 77903536 77903536 downstr_intron 4 1.105263 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAGGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 1438 113 0.8003629 0.8044556 0.8024093 0.9929816 0.9661661 0.9967339 0.9942603 NA NA -0.196371 -0.1898047 0.9795738 0.9954971 NA -0.1930879 NA FALSE NA 1 3.344 . splice_region_variant&intron_variant&NMD_transcript_variant LOW INTS4 HGNC 25048 ENST00000433818 18/23 1 NA CTT T,C 2.471e-05 11:77903536 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 splice_region_variant 1.65248 0.9783 0.6277 0.156188 0.9659741 0.869824 0.6530713 FALSE 1.62784e-05 ENSE00001670105_003 ENSE00001670105 003 11 77614547 77614716 - 39 81 50 C T 77614585 2209 132 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGATAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903538 77903539 77903539 downstr_intron 1 1.026316 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGATAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant 207 304 0 0 0 NA NA NA NA NA 0.9929816 0.9661661 0.9967339 0.9942603 -0.9929816 -0.9661661 NA NA 0.9795738 0.9954971 -0.9795738 NA NA NA TRUE 1 6.266 . splice_donor_variant&NMD_transcript_variant HIGH INTS4 HGNC 25048 ENST00000433818 18/23 rs377292634 1 NA T:0 T:0.0001 ACC C,T 8.237e-06 11:77903539 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 splice_donor_variant 5.621369 0.98958 0.95937 0.156188 0.9957527 0.983463 0.6530713 FALSE 4.06994e-06 ENSE00001670105_004 ENSE00001670105 004 11 77614547 77614716 - 39 81 50 G A 77614593 2210 124 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGTGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903546 77903547 77903547 exon -8 0.9135802 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGTGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant 16 35 0.85 0.85 0.85 104 81 0.9988068 1 0.9994034 0.9929816 0.9661661 0.9967339 0.9942603 -0.1429816 -0.1161661 0.002072883 0.005739675 0.9795738 0.9954971 -0.1295738 0.003906279 0.1334801 FALSE FALSE 1 6.183 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 18/24 1 NA CGC G,A 6.589e-05 11:77903547 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 missense_variant 2.432543 0.98277 0.93222 0.706548 0.8285804 0 0.6530713 FALSE 4.06994e-05 ENSE00001670105_005 ENSE00001670105 005 11 77614547 77614716 - 39 81 50 G T 77614604 2211 113 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCATCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903557 77903558 77903558 exon -19 0.7777778 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCATCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 642 310 1 1 1 0.9929816 0.9661661 0.9967339 0.9942603 NA NA 0.003266086 0.005739675 0.9795738 0.9954971 NA 0.004502881 NA FALSE NA 0.497 -0.055 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 18/24 1 NA AGG G,T 8.237e-06 11:77903558 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 synonymous_variant 1.058073 0.95532 0.52393 0.706548 0.8516522 0 0.6530713 FALSE 8.13749e-06 ENSE00001670105_006 ENSE00001670105 006 11 77614547 77614716 - 39 81 50 C T 77614642 2212 75 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATATAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903595 77903596 77903596 exon 25 0.308642 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATATAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant 90 101 0.85 0.85 0.85 80 1030 0.9515106 0.9642488 0.9578797 0.9929816 0.9661661 0.9967339 0.9942603 -0.1429816 -0.1161661 -0.04522332 -0.03001153 0.9795738 0.9954971 -0.1295738 -0.03761742 0.09195641 FALSE FALSE 1 1.529 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 18/24 1 NA ACA C,T 8.237e-06 11:77903596 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 missense_variant 2.265977 0.96386 0.57853 0.706548 0.9532836 0 0.6530713 FALSE NA ENSE00001670105_007 ENSE00001670105 007 11 77614547 77614716 - 39 81 50 A G 77614643 2213 74 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAACGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903596 77903597 77903597 exon 24 0.2962963 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAACGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 1162 276 0.998811 0.9970371 0.997924 0.9929816 0.9661661 0.9967339 0.9942603 NA NA 0.002077067 0.002776754 0.9795738 0.9954971 NA 0.002426911 NA FALSE NA 1 2.621 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 18/24 1 NA CAT A,G 2.471e-05 11:77903597 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 synonymous_variant 0.251827 0.96785 0.60576 0.706548 0.7965255 0 0.6530713 FALSE 2.03663e-05 ENSE00001670105_011 ENSE00001670105 011 11 77614547 77614716 - 39 81 50 C T 77614670 2217 47 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCATAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903623 77903624 77903624 upstr_intron -4 -0.06 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCATAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 28 1602 1 0.9944624 0.9972312 0.9929816 0.9661661 0.9967339 0.9942603 NA NA 0.003266086 0.0002020724 0.9795738 0.9954971 NA 0.001734079 NA FALSE NA 0.001 0.288 . splice_region_variant&intron_variant&NMD_transcript_variant LOW INTS4 HGNC 25048 ENST00000433818 17/23 1 NA ACG C,T 3.295e-05 11:77903624 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 splice_region_variant 2.030719 0.51101 0.06982 0.099367 0.8521073 0.447265 0.6530713 FALSE 3.69561e-05 ENSE00001670105_012 ENSE00001670105 012 11 77614547 77614716 - 39 81 50 T C 77614680 2218 37 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGGTTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903633 77903634 77903634 upstr_intron -14 -0.26 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGGTTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 109 717 0.9957714 0.9969711 0.9963713 0.9929816 0.9661661 0.9967339 0.9942603 NA NA -0.0009624996 0.002710822 0.9795738 0.9954971 NA 0.0008741612 NA FALSE NA 0 -1.462 . intron_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 17/23 rs370848374 1 NA C:0.0002 C:0 ATC T,C 8.237e-06 11:77903634 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 intron_variant 2.047165 0.18233 0.00991 0.062308 0.8522166 0.274417 0.6530713 FALSE 4.13774e-06 ENSE00001670105_013 ENSE00001670105 013 11 77614547 77614716 - 39 81 50 C T 77614681 2219 36 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTAATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903634 77903635 77903635 upstr_intron -15 -0.28 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTAATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 26 4752 1 0.9924317 0.9962158 0.9929816 0.9661661 0.9967339 0.9942603 NA NA 0.003266086 -0.001828665 0.9795738 0.9954971 NA 0.0007187102 NA FALSE NA 0.001 0.535 . intron_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 17/23 1 NA TCA C,T 8.237e-06 11:77903635 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 intron_variant 2.115451 0.2269 0.02829 0.062308 0.8562187 0.274417 0.6530713 FALSE 4.16361e-06 ENSE00001670105_014 ENSE00001670105 014 11 77614547 77614716 - 39 81 50 G A 77614686 2220 31 CCAGTCTTTGTGACCTCGGTATTCTGTTCCTTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903639 77903640 77903640 upstr_intron -20 -0.38 CCAGTCTTTGTGACCTCGGTATTCTGTTCCTTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 679 101 0.9949971 1 0.9974986 0.9929816 0.9661661 0.9967339 0.9942603 NA NA -0.0017368 0.005739675 0.9795738 0.9954971 NA 0.002001438 NA FALSE NA 0 -1.134 . intron_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 17/23 1 NA AGG G,A 8.238e-06 11:77903640 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 intron_variant 1.501918 0.1617 0.04886 0.062308 0.817281 0.159126 0.6530713 FALSE 4.16826e-06 ENSE00001670105_015 ENSE00001670105 015 11 77614547 77614716 - 39 81 50 G A 77614687 2221 30 CCAGTCTTTGTGACCTCGGTATTCTGTTCTCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903640 77903641 77903641 upstr_intron -21 -0.4 CCAGTCTTTGTGACCTCGGTATTCTGTTCTCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 1155 65 0.995054 0.9994124 0.9972332 0.9929816 0.9661661 0.9967339 0.9942603 NA NA -0.001679867 0.005152029 0.9795738 0.9954971 NA 0.001736081 NA FALSE NA 0 0.174 . intron_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 17/23 1 NA GGG G,A 4.943e-05 11:77903641 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 intron_variant 1.264335 0.07999 0.00034 0.062308 0.8028397 0.0621253 0.6530713 FALSE 2.94221e-05 ENSE00001670105_016 ENSE00001670105 016 11 77614547 77614716 - 39 81 50 C T 77614699 2222 18 CCAGTCTTTGTGACCTCAGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903652 77903653 77903653 upstr_intron -33 -0.64 CCAGTCTTTGTGACCTCAGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 45 677 1 0.9986394 0.9993197 0.9929816 0.9661661 0.9967339 0.9942603 NA NA 0.003266086 0.004379026 0.9795738 0.9954971 NA 0.003822556 NA FALSE NA 0 -0.064 . intron_variant&NMD_transcript_variant MODIFIER INTS4 HGNC 25048 ENST00000433818 17/23 rs374040575 1 NA T:0.0002 T:0 CCG C,T 3.296e-05 11:77903653 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 intron_variant 0.175104 0.16858 0.01447 0.099367 0.7637726 0.0621253 0.6530713 FALSE 1.75755e-05 ENSE00001672550_001 ENSE00001672550 001 14 100759593 100759762 - 38 84 48 C T 100759604 1552 159 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCAGGAGGCACAGG 100293255 100293425 100293266 100293267 100293267 downstr_intron 27 1.72973 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCAGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 101 62 0.9563044 1 0.9781522 0.999551 0.9930855 0.9955837 0.9952395 NA NA -0.0392793 0.004760544 0.9963183 0.9954116 NA -0.01725938 NA FALSE NA 0 -1.168 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA CCG C,T 8.24e-06 14:100293267 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 intron_variant -0.131084 0.11612 0.00921 0.092769 0.7785078 0.0541374 0.006060973 FALSE 4.15389e-06 ENSE00001672550_002 ENSE00001672550 002 14 100759593 100759762 - 38 84 48 G A 100759605 1553 158 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTTGGGAGGCACAGG 100293255 100293425 100293267 100293268 100293268 downstr_intron 26 1.702703 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTTGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 20 57 1 1 1 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004760544 0.9963183 0.9954116 NA 0.004588446 NA FALSE NA 0 -1.642 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 rs201085762 1 A:0.0004 A:0 A:0.0014 NA A:0 A:0.001 A:0 CGA G,A 1.648e-05 14:100293268 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 intron_variant 0.249447 0.06108 0.00174 0.092769 0.8133383 0.0541374 0.006060973 FALSE 8.27301e-06 ENSE00001672550_004 ENSE00001672550 004 14 100759593 100759762 - 38 84 48 C G 100759628 1555 135 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTCAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293290 100293291 100293291 downstr_intron 3 1.081081 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTCAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant 78 86 0.85 0.85 0.85 828 1753 0.8089152 0.8 0.8044576 0.999551 0.9930855 0.9955837 0.9952395 -0.149551 -0.1430855 -0.1866685 -0.1952395 0.9963183 0.9954116 -0.1463183 -0.190954 0.04463569 FALSE FALSE 0.999 1.034 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA TCA C,G 1.648e-05 14:100293291 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 splice_region_variant 0.803703 0.97203 0.94896 0.115753 0.6603645 0.403734 0.006060973 FALSE 2.04105e-05 ENSE00001672550_006 ENSE00001672550 006 14 100759593 100759762 - 38 84 48 C G 100759634 1557 129 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGACAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293296 100293297 100293297 exon -4 0.9642857 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGACAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 34 115 1 0.9840319 0.992016 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 -0.01120753 0.9963183 0.9954116 NA -0.003395591 NA FALSE NA 0.975 0.299 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 COSM3377335 1 NA TCT C,G 8.238e-06 14:100293297 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 2.874462 0.9587 0.87942 0.67177 0.5824244 0 0.006060973 FALSE 4.07751e-06 ENSE00001672550_010 ENSE00001672550 010 14 100759593 100759762 - 38 84 48 A T 100759647 1561 116 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCAACATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293309 100293310 100293310 exon -17 0.8095238 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCAACATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 188 107 1 1 1 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004760544 0.9963183 0.9954116 NA 0.004588446 NA FALSE NA 1 8.6 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA GAT A,T 8.237e-06 14:100293310 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 5.365903 0.99038 0.99135 0.67177 0.8556538 0 0.006060973 FALSE 4.07325e-06 ENSE00001672550_011 ENSE00001672550 011 14 100759593 100759762 - 38 84 48 G A 100759658 1562 105 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGTTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293320 100293321 100293321 exon -28 0.6785714 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGTTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 242 279 0.8444545 0.9946424 0.9195484 0.999551 0.9930855 0.9955837 0.9952395 NA NA -0.1511292 -0.0005971034 0.9963183 0.9954116 NA -0.07586314 NA FALSE NA 1 2.854 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA AGC G,A 8.237e-06 14:100293321 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 0.326827 0.96551 0.91803 0.67177 0.8748833 0 0.006060973 FALSE 4.07222e-06 ENSE00001672550_013 ENSE00001672550 013 14 100759593 100759762 - 38 84 48 G A 100759663 1564 100 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGTACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293325 100293326 100293326 exon -33 0.6190476 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGTACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 21 288 1 1 1 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004760544 0.9963183 0.9954116 NA 0.004588446 NA FALSE NA 1 9.092 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 rs554235596 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 TGC G,A 8.237e-06 14:100293326 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 4.663005 0.99218 0.99128 0.67177 0.9052972 0 0.006060973 FALSE 4.07256e-06 ENSE00001672550_015 ENSE00001672550 015 14 100759593 100759762 - 38 84 48 G C 100759668 1566 95 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGAGGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293330 100293331 100293331 exon -38 0.5595238 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGAGGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant 67 15 0.9245462 0.9573041 0.9409252 31 102 1 0.9984463 0.9992232 0.999551 0.9930855 0.9955837 0.9952395 -0.07500484 -0.03578136 0.004416348 0.003206852 0.9963183 0.9954116 -0.0553931 0.0038116 0.0592047 FALSE FALSE 1 9.092 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA CGT G,C 8.237e-06 14:100293331 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 4.97578 0.99264 0.99296 0.67177 0.9752058 0 0.006060973 FALSE 4.07179e-06 ENSE00001672550_018 ENSE00001672550 018 14 100759593 100759762 - 38 84 48 G A 100759673 1569 90 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGTGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293335 100293336 100293336 exon 42 0.5 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGTGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 208 54 1 1 1 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004760544 0.9963183 0.9954116 NA 0.004588446 NA FALSE NA 0 -3.247 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA CGC G,A 8.238e-06 14:100293336 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 0.320389 0.36294 0.03149 0.67177 0.8448907 0 0.006060973 FALSE 1.22179e-05 ENSE00001672550_023 ENSE00001672550 023 14 100759593 100759762 - 38 84 48 C T 100759693 1574 70 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCATGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293355 100293356 100293356 exon 22 0.2619048 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCATGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 14 13 1 1 1 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004760544 0.9963183 0.9954116 NA 0.004588446 NA FALSE NA 0 -0.319 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA ACG C,T 6.591e-05 14:100293356 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant -0.280802 0.90778 0.18114 0.67177 0.6384389 0 0.006060973 FALSE 7.75631e-05 ENSE00001672550_025 ENSE00001672550 025 14 100759593 100759762 - 38 84 48 G C 100759700 1576 63 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTGCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293362 100293363 100293363 exon 15 0.1785714 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTGCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 618 298 0.9988624 1 0.9994312 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.003278764 0.004760544 0.9963183 0.9954116 NA 0.004019654 NA FALSE NA 0.832 -0.109 rs146621215 downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 rs146621215 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0005 C:0 GGA G,C 4.944e-05 14:100293363 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 0.25496 0.91544 0.44578 0.67177 0.8921713 0 0.006060973 FALSE 3.67797e-05 ENSE00001672550_026 ENSE00001672550 026 14 100759593 100759762 - 38 84 48 C G 100759703 1577 60 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCACGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293365 100293366 100293366 exon 12 0.1428571 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCACGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 178 21 1 1 1 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004760544 0.9963183 0.9954116 NA 0.004588446 NA FALSE NA 1 1.818 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA CCT C,G 8.24e-06 14:100293366 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 5.288956 0.97022 0.92826 0.67177 0.99705 0 0.006060973 FALSE NA ENSE00001672550_027 ENSE00001672550 027 14 100759593 100759762 - 38 84 48 G T 100759705 1578 58 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTAAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293367 100293368 100293368 exon 10 0.1190476 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTAAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 337 194 0.8395232 1 0.9197616 0.999551 0.9930855 0.9955837 0.9952395 NA NA -0.1560604 0.004760544 0.9963183 0.9954116 NA -0.07564993 NA FALSE NA 1 9.092 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 rs200971769 1 NA TGA G,T 1.648e-05 14:100293368 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 stop_gained 5.671788 0.98886 0.99157 0.67177 0.9958962 0 0.006060973 FALSE 1.22769e-05 ENSE00001672550_030 ENSE00001672550 030 14 100759593 100759762 - 38 84 48 A G 100759713 1581 50 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGCACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293375 100293376 100293376 exon 2 0.02380952 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGCACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 47 114 1 1 1 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004760544 0.9963183 0.9954116 NA 0.004588446 NA FALSE NA 1 8.6 rs149547960 downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 COSM4049065 1 NA TAC A,G 8.24e-06 14:100293376 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 missense_variant 6.004151 0.99222 0.99265 0.67177 0.9979302 0 0.006060973 FALSE NA ENSE00001672550_031 ENSE00001672550 031 14 100759593 100759762 - 38 84 48 G A 100759728 1582 35 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGATCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293390 100293391 100293391 upstr_intron -14 -0.2708333 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGATCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 205 125 1 0.999695 0.9998475 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004455508 0.9963183 0.9954116 NA 0.004435928 NA FALSE NA 0 0.513 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA GGT G,A 8.243e-06 14:100293391 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 5_prime_UTR_variant 0.611463 0.16853 0.09528 0.184171 0.8625761 0.0867082 0.006060973 FALSE NA ENSE00001672550_032 ENSE00001672550 032 14 100759593 100759762 - 38 84 48 T C 100759729 1583 34 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGGCCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293391 100293392 100293392 upstr_intron -15 -0.2916667 GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGGCCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 371 74 1 0.9299416 0.9649708 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 -0.06529787 0.9963183 0.9954116 NA -0.03044076 NA FALSE NA 0 -0.507 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 rs532377122 1 C:0.0002 C:0 C:0 NA C:0 C:0 C:0.001 GTC T,C 4.121e-05 14:100293392 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 5_prime_UTR_variant 0.201154 0.11997 0.01089 0.184171 0.8485322 0.0867082 0.006060973 FALSE 2.89649e-05 ENSE00001672550_035 ENSE00001672550 035 14 100759593 100759762 - 38 84 48 G C 100759739 1586 24 GTGCTCTGGTCCTGCCTGCCTGCGTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293401 100293402 100293402 upstr_intron -25 -0.5 GTGCTCTGGTCCTGCCTGCCTGCGTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 21 240 1 1 1 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 0.004760544 0.9963183 0.9954116 NA 0.004588446 NA FALSE NA 0 -0.184 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA AGG G,C 2.474e-05 14:100293402 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 5_prime_UTR_variant -0.131781 0.18489 0.06266 0.184171 0.7195008 0.0754327 0.006060973 FALSE 2.98337e-05 ENSE00001672550_037 ENSE00001672550 037 14 100759593 100759762 - 38 84 48 A G 100759746 1588 17 GTGCTCTGGTCCTGCCCGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293408 100293409 100293409 upstr_intron -32 -0.6458333 GTGCTCTGGTCCTGCCCGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 220 53 1 0.8 0.9 0.999551 0.9930855 0.9955837 0.9952395 NA NA 0.004416348 -0.1952395 0.9963183 0.9954116 NA -0.09541155 NA FALSE NA 0 -1.508 . downstream_gene_variant MODIFIER SLC25A29 HGNC 20116 ENST00000555475 1 NA CAG A,G 8.246e-06 14:100293409 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 5_prime_UTR_variant 0.488155 0.1495 0.0337 0.184171 0.7103753 0.0754327 0.006060973 FALSE 4.31749e-06 ENSE00001674129_001 ENSE00001674129 001 10 98994944 98995113 - 30 99 41 C T 98994954 2062 160 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCATTTTCAGCAT 97235186 97235356 97235196 97235197 97235197 downstr_intron 20 1.689655 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCATTTTCAGCAT TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT mutant NA NA NA NA NA 65 81 0.990785 1 0.9953925 NA NA 0.9979948 0.9964635 NA NA -0.007209731 0.003536491 NA 0.9972291 NA -0.00183662 NA FALSE NA 0 -4.025 . intron_variant MODIFIER ARHGAP19 HGNC 23724 ENST00000371027 9/11 1 NA ACG C,T 9.06e-05 10:97235197 ARHGAP19 HGNC Symbol protein_coding 70500 ENSG00000213390 ENSE00003551419 intron_variant -0.787004 0.05594 0.01082 0.163922 0.6792947 0.119696 1.63036e-07 FALSE 7.8083e-05 ENSE00001674129_019 ENSE00001674129 019 10 98994944 98995113 - 30 99 41 G A 98995039 2080 75 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGTGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT 97235186 97235356 97235281 97235282 97235282 exon 34 0.3434343 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGTGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT mutant 19 25 0.85 0.85 0.85 NA NA NA NA NA NA NA 0.9979948 0.9964635 NA NA NA NA NA 0.9972291 NA NA NA NA NA 0 -0.155 . stop_gained HIGH ARHGAP19 HGNC 23724 ENST00000371027 9/12 1 NA HC CGC G,A 3.295e-05 10:97235282 ARHGAP19 HGNC Symbol protein_coding 70500 ENSG00000213390 ENSE00003551419 stop_gained 9.789027 0.1892 0.06025 0.706298 0.9840215 0 1.63036e-07 FALSE 4.06299e-05 ENSE00001674129_022 ENSE00001674129 022 10 98994944 98995113 - 30 99 41 A G 98995067 2083 47 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAACAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT 97235186 97235356 97235309 97235310 97235310 exon 6 0.06060606 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAACAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT mutant NA NA NA NA NA 84 93 0.999509 0.9975063 0.9985077 NA NA 0.9979948 0.9964635 NA NA 0.001514266 0.001042793 NA 0.9972291 NA 0.00127853 NA FALSE NA 1 0.837 . synonymous_variant LOW ARHGAP19 HGNC 23724 ENST00000371027 9/12 rs371589556 1 NA TAT A,G 4.942e-05 10:97235310 ARHGAP19 HGNC Symbol protein_coding 70500 ENSG00000213390 ENSE00003551419 synonymous_variant 0.662828 0.89094 0.54834 0.706298 0.5085545 0 1.63036e-07 FALSE 8.14445e-05 ENSE00001716901_003 ENSE00001716901 003 16 3562341 3562510 + 42 96 32 T G 3562392 185 52 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATGTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512391 3512392 3512392 exon 10 0.1041667 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATGTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 77 194 1 1 1 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.008686528 0.01415179 0.983069 0.9885808 NA 0.01141916 NA FALSE NA 0.995 0.453 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA TTT T,G 1.647e-05 16:3512392 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 2.408171 0.96418 0.86134 0.732398 0.9949442 0 NA NA 1.62431e-05 ENSE00001716901_004 ENSE00001716901 004 16 3562341 3562510 + 42 96 32 G A 3562401 186 61 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAACCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512400 3512401 3512401 exon 19 0.1979167 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAACCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 198 431 0.9983253 1 0.9991626 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.007011798 0.01415179 0.983069 0.9885808 NA 0.0105818 NA FALSE NA 1 9.233 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA AGC G,A 8.236e-06 16:3512401 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 3.413738 0.99103 0.98771 0.706548 0.9955288 0 NA NA 4.06065e-06 ENSE00001716901_005 ENSE00001716901 005 16 3562341 3562510 + 42 96 32 G C 3562413 187 73 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTCCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512412 3512413 3512413 exon 31 0.3229167 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTCCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 155 899 0.8607239 1 0.930362 0.9876933 0.9784447 0.9913135 0.9858482 NA NA -0.1305895 0.01415179 0.983069 0.9885808 NA -0.05821887 NA FALSE NA 1 9.233 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA TGC G,C 1.647e-05 16:3512413 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 6.408565 0.99116 0.99006 0.706548 0.9977922 0 NA NA 8.1213e-06 ENSE00001716901_006 ENSE00001716901 006 16 3562341 3562510 + 42 96 32 G A 3562415 188 75 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCATCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512414 3512415 3512415 exon 33 0.34375 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCATCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 789 1930 0.9989521 0.9979584 0.9984553 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.007638653 0.01211018 0.983069 0.9885808 NA 0.009874414 NA FALSE NA 0.774 -0.254 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 rs564836103&COSM3711924 1 A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 CGT G,A 0.0005024 16:3512415 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 synonymous_variant 2.0328 0.94457 0.46279 0.706548 0.8041876 0 NA NA 0.000414193 ENSE00001716901_007 ENSE00001716901 007 16 3562341 3562510 + 42 96 32 C T 3562417 189 77 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTTTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512416 3512417 3512417 exon 35 0.3645833 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTTTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 13 72 0.8 1 0.9 0.9876933 0.9784447 0.9913135 0.9858482 NA NA -0.1913135 0.01415179 0.983069 0.9885808 NA -0.08858084 NA FALSE NA 1 7.303 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA TCT C,T 8.236e-06 16:3512417 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 6.976273 0.99078 0.97869 0.706548 0.9985002 0 NA NA NA ENSE00001716901_008 ENSE00001716901 008 16 3562341 3562510 + 42 96 32 C T 3562424 190 84 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATTACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512423 3512424 3512424 exon 42 0.4375 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATTACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 103 172 1 0.9972999 0.9986499 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.008686528 0.01145168 0.983069 0.9885808 NA 0.0100691 NA FALSE NA 1 2.812 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA TCA C,T 8.236e-06 16:3512424 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 synonymous_variant 2.355386 0.97253 0.87788 0.706548 0.7976908 0 NA NA 8.1213e-06 ENSE00001716901_009 ENSE00001716901 009 16 3562341 3562510 + 42 96 32 C A 3562429 191 89 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTACAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512428 3512429 3512429 exon 47 0.4895833 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTACAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 34 891 1 1 1 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.008686528 0.01415179 0.983069 0.9885808 NA 0.01141916 NA FALSE NA 1 5.594 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA TCC C,A 8.236e-06 16:3512429 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 3.27024 0.98455 0.9674 0.653281 0.984924 0 NA NA 8.1213e-06 ENSE00001716901_010 ENSE00001716901 010 16 3562341 3562510 + 42 96 32 C A 3562430 192 90 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCAAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512429 3512430 3512430 exon 48 0.5 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCAAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 14 1307 1 0.9964198 0.9982099 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.008686528 0.0105716 0.983069 0.9885808 NA 0.009629066 NA FALSE NA 0.982 0.144 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA CCA C,A 8.236e-06 16:3512430 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 synonymous_variant 2.270738 0.94915 0.7513 0.706548 0.7930136 0 NA NA 4.06065e-06 ENSE00001716901_015 ENSE00001716901 015 16 3562341 3562510 + 42 96 32 C T 3562455 197 115 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGTTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512454 3512455 3512455 exon -24 0.7604167 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGTTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 922 119 1 1 1 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.008686528 0.01415179 0.983069 0.9885808 NA 0.01141916 NA FALSE NA 1 5.589 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA GCT C,T 1.647e-05 16:3512455 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 4.878088 0.98458 0.95907 0.706548 0.9987115 0 NA NA 8.1215e-06 ENSE00001716901_016 ENSE00001716901 016 16 3562341 3562510 + 42 96 32 C T 3562457 198 117 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTTGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512456 3512457 3512457 exon -22 0.78125 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTTGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 168 752 0.9904914 0.9037596 0.9471255 0.9876933 0.9784447 0.9913135 0.9858482 NA NA -0.000822061 -0.08208864 0.983069 0.9885808 NA -0.04145535 NA FALSE NA 1 2.021 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 rs373991000 1 NA T:0.0002 T:0 TCG C,T 2.471e-05 16:3512457 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 synonymous_variant 0.778197 0.95919 0.64105 0.706548 0.5917655 0 NA NA 1.21824e-05 ENSE00001716901_017 ENSE00001716901 017 16 3562341 3562510 + 42 96 32 G A 3562458 199 118 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCAGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512457 3512458 3512458 exon -21 0.7916667 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCAGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 66 925 1 1 1 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.008686528 0.01415179 0.983069 0.9885808 NA 0.01141916 NA FALSE NA 1 7.429 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA CGG G,A 8.236e-06 16:3512458 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 3.605111 0.97974 0.97267 0.706548 0.9957911 0 NA NA 1.21828e-05 ENSE00001716901_019 ENSE00001716901 019 16 3562341 3562510 + 42 96 32 G C 3562467 201 127 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAACTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512466 3512467 3512467 exon -12 0.8854167 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAACTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 1157 589 1 1 1 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.008686528 0.01415179 0.983069 0.9885808 NA 0.01141916 NA FALSE NA 1 7.376 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA AGT G,C 8.236e-06 16:3512467 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 2.103865 0.99118 0.98612 0.706548 0.9785579 0 NA NA 4.06075e-06 ENSE00001716901_020 ENSE00001716901 020 16 3562341 3562510 + 42 96 32 G C 3562470 202 130 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTACAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512469 3512470 3512470 exon -9 0.9166667 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTACAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 2234 260 0.9611726 0.828373 0.8947728 0.9876933 0.9784447 0.9913135 0.9858482 NA NA -0.03014089 -0.1574752 0.983069 0.9885808 NA -0.09380806 NA FALSE NA 1 7.428 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/5 1 NA AGA G,C 8.236e-06 16:3512470 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 missense_variant 0.841127 0.98362 0.97999 0.706548 0.9593388 0 NA NA 1.21823e-05 ENSE00001716901_022 ENSE00001716901 022 16 3562341 3562510 + 42 96 32 C T 3562494 204 154 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTATTTCCTTAACCATGCAG 3512340 3512510 3512493 3512494 3512494 downstr_intron 16 1.516129 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTATTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 355 335 1 0.9961515 0.9980757 0.9876933 0.9784447 0.9913135 0.9858482 NA NA 0.008686528 0.01030326 0.983069 0.9885808 NA 0.009494894 NA FALSE NA 0 -0.216 . intron_variant&non_coding_transcript_variant MODIFIER LA16c-306E5.3 Clone_based_vega_gene NA ENST00000574423 4/4 rs374398850 1 NA T:0 T:0.0003 ACT C,T 2.471e-05 16:3512494 AC004224.2 Clone-based (Ensembl) gene processed_transcript 57493 ENSG00000263212 ENSE00003593408 intron_variant 0.062348 0.16728 0.02302 0.099367 0.3523293 0.0918335 NA NA 2.45377e-05 ENSE00001719634_001 ENSE00001719634 001 19 17120042 17120211 - 71 18 81 A C 17120068 1535 144 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGGAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009257 17009258 17009258 downstr_intron 45 1.642857 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGGAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 92 102 0.9863985 0.9937979 0.9900982 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.218521 0.1245365 0.994242 0.8185695 NA 0.1715287 NA FALSE NA 0.002 0.199 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 1 NA TAC A,C 8.264e-06 19:17009258 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.0353 0.11748 0.03349 0.053691 0.6349394 0.0533499 2.018015e-14 FALSE 4.06286e-06 ENSE00001719634_002 ENSE00001719634 002 19 17120042 17120211 - 71 18 81 C T 17120071 1536 141 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCAGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009260 17009261 17009261 downstr_intron 42 1.6 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCAGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 171 65 0.976117 1 0.9880585 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2082395 0.1307385 0.994242 0.8185695 NA 0.169489 NA FALSE NA 0 -1.199 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 rs368392669 1 NA T:0.0002 T:0 CCG C,T 3.306e-05 19:17009261 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.267521 0.07699 0.00303 0.053691 0.4589466 0.0533499 2.018015e-14 FALSE 2.03127e-05 ENSE00001719634_003 ENSE00001719634 003 19 17120042 17120211 - 71 18 81 G A 17120072 1537 140 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCTGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009261 17009262 17009262 downstr_intron 41 1.585714 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCTGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 256 94 0.9933488 0.9910187 0.9921837 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2254712 0.1217572 0.994242 0.8185695 NA 0.1736142 NA FALSE NA 0 -0.759 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 rs566800785 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 CGG G,A 4.132e-05 19:17009262 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.057345 0.06417 0.0025 0.053691 0.471137 0.0533499 2.018015e-14 FALSE 1.62489e-05 ENSE00001719634_004 ENSE00001719634 004 19 17120042 17120211 - 71 18 81 G T 17120073 1538 139 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCACGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009262 17009263 17009263 downstr_intron 40 1.571429 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCACGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 930 3170 0.914495 0.9807898 0.9476424 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.1466175 0.1115283 0.994242 0.8185695 NA 0.1290729 NA FALSE NA 0 -0.612 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 rs372587252 1 T:0.0004 T:0.0015 T:0 NA T:0 T:0 T:0 T:0.0012 T:0 GGG G,T 8.264e-05 19:17009263 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.103926 0.11583 0.00723 0.053691 0.4970406 0.0533499 2.018015e-14 FALSE 6.09335e-05 ENSE00001719634_005 ENSE00001719634 005 19 17120042 17120211 - 71 18 81 C T 17120078 1539 134 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTAGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009267 17009268 17009268 downstr_intron 35 1.5 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTAGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 89 441 0.9749748 0.9037831 0.939379 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2070973 0.03452165 0.994242 0.8185695 NA 0.1208095 NA FALSE NA 0 -0.172 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 rs374947865 1 NA T:0.0005 T:0 CCA C,T 4.958e-05 19:17009268 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.104823 0.07559 0.00878 0.053691 0.6062441 0.090406 2.018015e-14 FALSE 4.87436e-05 ENSE00001719634_011 ENSE00001719634 011 19 17120042 17120211 - 71 18 81 G A 17120090 1545 122 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTTGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009279 17009280 17009280 downstr_intron 23 1.328571 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTTGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 240 1352 1 0.9917386 0.9958693 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2321225 0.1224771 0.994242 0.8185695 NA 0.1772998 NA FALSE NA 0 -0.003 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 rs555859239 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 CGA G,A 0.0001652 19:17009280 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant -0.099905 0.06318 0.00715 0.053691 0.4709082 0.0533499 2.018015e-14 FALSE 0.000142157 ENSE00001719634_012 ENSE00001719634 012 19 17120042 17120211 - 71 18 81 G T 17120092 1546 120 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCATCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009281 17009282 17009282 downstr_intron 21 1.3 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCATCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 550 238 1 0.9917199 0.99586 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2321225 0.1224585 0.994242 0.8185695 NA 0.1772905 NA FALSE NA 0 0.064 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 1 NA AGG G,T 1.652e-05 19:17009282 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.134362 0.18836 0.03215 0.053691 0.7430344 0.0533499 2.018015e-14 FALSE 8.12255e-06 ENSE00001719634_013 ENSE00001719634 013 19 17120042 17120211 - 71 18 81 A G 17120094 1547 118 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTCCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009283 17009284 17009284 downstr_intron 19 1.271429 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTCCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 166 199 1 0.9863388 0.9931694 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2321225 0.1170774 0.994242 0.8185695 NA 0.1745999 NA FALSE NA 0.001 -0.207 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 1 NA GAA A,G 8.262e-06 19:17009284 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.120705 0.09645 0.00401 0.053691 0.4917148 0.0693028 2.018015e-14 FALSE 8.12255e-06 ENSE00001719634_014 ENSE00001719634 014 19 17120042 17120211 - 71 18 81 G A 17120103 1548 109 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCTTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009292 17009293 17009293 downstr_intron 10 1.142857 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCTTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 30 350 0.9341405 0.9995479 0.9668442 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.166263 0.1302864 0.994242 0.8185695 NA 0.1482747 NA FALSE NA 0.016 -0.224 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 6/14 rs575811747 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 AGG G,A 8.262e-06 19:17009293 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.577807 0.12319 0.00572 0.053691 0.8117077 0.0693028 2.018015e-14 FALSE 4.06111e-06 ENSE00001719634_015 ENSE00001719634 015 19 17120042 17120211 - 71 18 81 C T 17120105 1549 107 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGACCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009294 17009295 17009295 downstr_intron 8 1.114286 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGACCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 640 395 0.8970276 0.9548154 0.9259215 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.1291501 0.08555389 0.994242 0.8185695 NA 0.107352 NA FALSE NA 0.197 0.015 . splice_region_variant&intron_variant&NMD_transcript_variant LOW CPAMD8 HGNC 23228 ENST00000291440 6/14 1 NA GCC C,T 3.305e-05 19:17009295 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 splice_region_variant 1.044786 0.16479 0.0252 0.053691 0.6702185 0.100261 2.018015e-14 FALSE 2.43673e-05 ENSE00001719634_017 ENSE00001719634 017 19 17120042 17120211 - 71 18 81 C T 17120110 1551 102 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTAAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009299 17009300 17009300 downstr_intron 3 1.042857 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTAAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 680 144 0 0.04775596 0.02387798 0.9954676 0.9930163 0.7678775 0.8692615 NA NA -0.7678775 -0.8215055 0.994242 0.8185695 NA -0.7946915 NA TRUE NA 1 0.616 . splice_region_variant&intron_variant&NMD_transcript_variant LOW CPAMD8 HGNC 23228 ENST00000291440 6/14 1 NA TCA C,T 8.262e-06 19:17009300 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 splice_region_variant 1.512197 0.94098 0.46748 0.053691 0.7609308 0.277072 2.018015e-14 FALSE 4.06118e-06 ENSE00001719634_018 ENSE00001719634 018 19 17120042 17120211 - 71 18 81 G A 17120122 1552 90 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCTTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009311 17009312 17009312 exon 9 0.5 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCTTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 533 491 0.9968222 0.9904857 0.9936539 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2289447 0.1212242 0.994242 0.8185695 NA 0.1750844 NA FALSE NA 0.997 -0.146 . synonymous_variant&NMD_transcript_variant LOW CPAMD8 HGNC 23228 ENST00000291440 6/15 1 NA AGG G,A 8.262e-06 19:17009312 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 synonymous_variant 1.031151 0.91432 0.24346 0.487112 0.5549238 0 2.018015e-14 FALSE 4.06101e-06 ENSE00001719634_019 ENSE00001719634 019 19 17120042 17120211 - 71 18 81 T G 17120125 1553 87 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGACGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009314 17009315 17009315 exon 6 0.3333333 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGACGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 25 444 1 1 1 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2321225 0.1307385 0.994242 0.8185695 NA 0.1814305 NA FALSE NA 1 0.572 . missense_variant&NMD_transcript_variant MODERATE CPAMD8 HGNC 23228 ENST00000291440 6/15 COSM3530247 1 tolerated(0.29) benign(0.02) NA CTT T,G 8.263e-06 19:17009315 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 missense_variant 0.860239 0.9363 0.50236 0.487112 0.9305747 0 2.018015e-14 FALSE 4.06101e-06 ENSE00001719634_020 ENSE00001719634 020 19 17120042 17120211 - 71 18 81 G T 17120141 1554 71 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTATTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009330 17009331 17009331 upstr_intron -11 -0.1234568 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTATTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 432 163 0.8494902 0.8774108 0.8634505 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.08161264 0.008149354 0.994242 0.8185695 NA 0.044881 NA FALSE NA 0.704 0.212 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 5/14 1 NA AGA G,T 8.262e-06 19:17009331 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.398349 0.77827 0.14206 0.053691 0.6203997 0.210462 2.018015e-14 FALSE 1.62442e-05 ENSE00001719634_021 ENSE00001719634 021 19 17120042 17120211 - 71 18 81 A G 17120144 1555 68 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGCGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009333 17009334 17009334 upstr_intron -14 -0.1604938 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGCGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 245 53 0.9505077 0.8047484 0.877628 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.1826302 -0.06451308 0.994242 0.8185695 NA 0.05905855 NA FALSE NA 1 1.487 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 5/14 1 NA CAC A,G 8.261e-06 19:17009334 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.333221 0.93517 0.62867 0.053691 0.7004993 0.196418 2.018015e-14 FALSE 4.06098e-06 ENSE00001719634_022 ENSE00001719634 022 19 17120042 17120211 - 71 18 81 G A 17120157 1556 55 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGTTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009346 17009347 17009347 upstr_intron -27 -0.3209877 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGTTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 271 281 0.9457553 0.9994368 0.972596 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.1778778 0.1301753 0.994242 0.8185695 NA 0.1540265 NA FALSE NA 0.048 1.174 . intron_variant&NMD_transcript_variant MODIFIER CPAMD8 HGNC 23228 ENST00000291440 5/14 1 NA AGC G,A 8.261e-06 19:17009347 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.254858 0.11925 0.02812 0.053691 0.7215068 0.0800268 2.018015e-14 FALSE 8.1217e-06 ENSE00001726168_001 ENSE00001726168 001 1 55193972 55194141 + 47 87 36 C G 55193985 1958 14 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGACACCTGGCTTCCTC 54728298 54728468 54728311 54728312 54728312 upstr_intron -34 -0.7021277 GAGGAAGCCAGGTGTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant 15 38 0.993228 1 0.996614 136 1080 0.9802686 0.9981339 0.9892012 0.9768884 0.9239624 0.9968037 0.8239952 0.01633954 0.07603762 -0.01653506 0.1741386 0.9504254 0.9103995 0.04618858 0.07880178 0.0326132 FALSE FALSE 0 1.068 . intron_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 28/32 1 NA TCT C,G 1.648e-05 1:54728312 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 intron_variant 0.702524 0.22791 0.24472 0.099367 0.7157731 0.0902094 NA NA 8.69406e-06 ENSE00001726168_002 ENSE00001726168 002 1 55193972 55194141 + 47 87 36 T C 55193986 1959 15 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGGGACCTGGCTTCCTC 54728298 54728468 54728312 54728313 54728313 upstr_intron -33 -0.6808511 GAGGAAGCCAGGTCCCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant 24 47 0.998851 0.9719207 0.9853858 350 256 0.9969209 0.9981959 0.9975584 0.9768884 0.9239624 0.9968037 0.8239952 0.02196253 0.04795834 0.0001171575 0.1742007 0.9504254 0.9103995 0.03496044 0.08715891 0.05219847 FALSE FALSE 0 -0.551 . intron_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 28/32 1 NA CTC T,C 8.24e-06 1:54728313 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 intron_variant 0.481852 0.10477 0.00243 0.099367 0.7454667 0.0902094 NA NA NA ENSE00001726168_003 ENSE00001726168 003 1 55193972 55194141 + 47 87 36 T C 55194001 1960 30 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGGTGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728327 54728328 54728328 upstr_intron -18 -0.3617021 GAGGAAGCCAGGTCTCTAGAGCTGATGCACCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant 96 196 0.85 0.85 0.85 1156 202 0.9364123 0.9686614 0.9525368 0.9768884 0.9239624 0.9968037 0.8239952 -0.1268884 -0.07396238 -0.06039144 0.1446662 0.9504254 0.9103995 -0.1004254 0.04213737 0.1425628 FALSE FALSE 0.863 0.564 rs184604522 intron_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 28/32 rs184604522 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 ATC T,C 0.0001071 1:54728328 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 intron_variant 0.34704 0.17766 0.13482 0.295142 0.7803184 0.12718 NA NA 0.00020393 ENSE00001726168_004 ENSE00001726168 004 1 55193972 55194141 + 47 87 36 G A 55194020 1961 49 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTTGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728346 54728347 54728347 exon 2 0.02298851 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCAAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant 22 17 0.9983434 1 0.9991717 185 498 0.9750651 0.9610318 0.9680484 0.9768884 0.9239624 0.9968037 0.8239952 0.02145502 0.07603762 -0.02173861 0.1370365 0.9504254 0.9103995 0.04874632 0.05764896 0.008902639 FALSE FALSE 1 6.28 . splice_region_variant&3_prime_UTR_variant&NMD_transcript_variant LOW MROH7-TTC4 HGNC 49180 ENST00000425300 29/33 1 NA CGA G,A 8.238e-06 1:54728347 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 missense_variant 3.32678 0.9755 0.97688 0.706548 0.9966268 0 NA NA 8.20304e-06 ENSE00001726168_005 ENSE00001726168 005 1 55193972 55194141 + 47 87 36 G A 55194025 1962 54 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTTAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728351 54728352 54728352 exon 7 0.08045977 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTAAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant 58 133 0.8867642 0.85 0.8683821 893 1267 0.9791616 0.9765029 0.9778322 0.9768884 0.9239624 0.9968037 0.8239952 -0.09012422 -0.07396238 -0.01764213 0.1525076 0.9504254 0.9103995 -0.0820433 0.06743274 0.149476 FALSE FALSE 1 1.52 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 29/33 1 NA TGA G,A 8.238e-06 1:54728352 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 missense_variant 1.84064 0.95139 0.87608 0.706548 0.9058632 0 NA NA 1.63696e-05 ENSE00001726168_006 ENSE00001726168 006 1 55193972 55194141 + 47 87 36 C G 55194028 1963 57 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTCTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728354 54728355 54728355 exon 10 0.1149425 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAAGAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant NA NA NA NA NA 349 1269 0.8637362 0.992488 0.9281121 0.9768884 0.9239624 0.9968037 0.8239952 NA NA -0.1330675 0.1684928 0.9504254 0.9103995 NA 0.01771266 NA FALSE NA 1 1.735 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 29/33 1 NA ACA C,G 8.238e-06 1:54728355 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 missense_variant 0.216589 0.96192 0.64325 0.706548 0.8419801 0 NA NA 4.08954e-06 ENSE00001726168_007 ENSE00001726168 007 1 55193972 55194141 + 47 87 36 T C 55194038 1964 67 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCGCATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728364 54728365 54728365 exon 20 0.2298851 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGCGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant NA NA NA NA NA 171 1266 0.9759778 0.9987579 0.9873678 0.9768884 0.9239624 0.9968037 0.8239952 NA NA -0.02082591 0.1747627 0.9504254 0.9103995 NA 0.07696838 NA FALSE NA 0.9 0.794 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 29/33 1 NA GTG T,C 8.238e-06 1:54728365 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 missense_variant -0.106359 0.73375 0.34844 0.706548 0.762031 0 NA NA NA ENSE00001726168_008 ENSE00001726168 008 1 55193972 55194141 + 47 87 36 G A 55194041 1965 70 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCTTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728367 54728368 54728368 exon 23 0.2643678 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAAGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant 21 16 0.9981168 0.9977367 0.9979267 NA NA NA NA NA 0.9768884 0.9239624 0.9968037 0.8239952 0.02122837 0.07377432 NA NA 0.9504254 0.9103995 0.04750134 NA NA NA FALSE 1 6.28 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 29/33 1 NA AGG G,A 8.238e-06 1:54728368 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 missense_variant 3.876625 0.97576 0.97692 0.706548 0.9951511 0 NA NA 3.26496e-05 ENSE00001726168_009 ENSE00001726168 009 1 55193972 55194141 + 47 87 36 G A 55194046 1966 75 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGTTTTCCTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728372 54728373 54728373 exon 28 0.3218391 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAACCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant NA NA NA NA NA 134 522 1 0.9961869 0.9980935 0.9768884 0.9239624 0.9968037 0.8239952 NA NA 0.003196306 0.1721917 0.9504254 0.9103995 NA 0.087694 NA FALSE NA 1 6.28 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 29/33 1 NA AGC G,A 4.119e-05 1:54728373 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 missense_variant 2.55302 0.97618 0.97702 0.706548 0.9910108 0 NA NA 3.67188e-05 ENSE00001726168_012 ENSE00001726168 012 1 55193972 55194141 + 47 87 36 A G 55194077 1969 106 AGCAGGACCATAAAAACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCCGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728403 54728404 54728404 exon -29 0.6781609 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCGGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant NA NA NA NA NA 897 1569 1 0.998222 0.999111 0.9768884 0.9239624 0.9968037 0.8239952 NA NA 0.003196306 0.1742267 0.9504254 0.9103995 NA 0.08871152 NA FALSE NA 1 4.528 . 3_prime_UTR_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 29/33 1 NA CAG A,G 8.238e-06 1:54728404 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 missense_variant 2.61604 0.97979 0.98019 0.706548 0.9917196 0 NA NA NA ENSE00001726168_013 ENSE00001726168 013 1 55193972 55194141 + 47 87 36 T C 55194122 1970 151 AGCAGGACCATAAAAACCTGAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728448 54728449 54728449 downstr_intron 17 1.485714 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTCAGGTTTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant NA NA NA NA NA 125 1009 1 0.9016516 0.9508258 0.9768884 0.9239624 0.9968037 0.8239952 NA NA 0.003196306 0.07765639 0.9504254 0.9103995 NA 0.04042635 NA FALSE NA 0 -1.26 . intron_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 29/32 1 NA TTA T,C 8.24e-06 1:54728449 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 intron_variant -0.376193 0.12031 0.04871 0.099367 0.5583192 0.119757 NA NA NA ENSE00001726168_014 ENSE00001726168 014 1 55193972 55194141 + 47 87 36 T C 55194127 1971 156 AGCAGGACCATAAAGACCTAAGGTTTAAGAACTCACCTTGATGGCCTGGAGTAAAGCCTCATTCTGATTCCTCTCCTTCTTTTCTTTCAAGTTGGCTTTCCTCACATCCCTCTGTTCAATTCGCTAAAAATGAAATTTAGATGCATCAGCTCTAGAGACCTGGCTTCCTC 54728298 54728468 54728453 54728454 54728454 downstr_intron 22 1.628571 GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTCTTTATGGTCCTGCT GAGGAAGCCAGGTCTCTAGAGCTGATGCATCTAAATTTCATTTTTAGCGAATTGAACAGAGGGATGTGAGGAAAGCCAACTTGAAAGAAAAGAAGGAGAGGAATCAGAATGAGGCTTTACTCCAGGCCATCAAGGTGAGTTCTTAAACCTTAGGTTTTTATGGTCCTGCT mutant 21 38 0.9786636 0.9805189 0.9795913 853 830 0.9984744 0.9968199 0.9976471 0.9768884 0.9239624 0.9968037 0.8239952 0.001775215 0.05655654 0.001670697 0.1728246 0.9504254 0.9103995 0.02916588 0.08724767 0.05808179 FALSE FALSE 0.002 0.209 . intron_variant&NMD_transcript_variant MODIFIER MROH7-TTC4 HGNC 49180 ENST00000425300 29/32 1 NA TTT T,C 0.0001648 1:54728454 MROH7-TTC4 HGNC Symbol protein_coding 100522 ENSG00000271723 ENSE00003589511 intron_variant 0.217056 0.11458 0.00075 0.099367 0.7977023 0.12107 NA NA 0.00018577 ENSE00001726331_001 ENSE00001726331 001 6 11188416 11188585 - 35 90 45 C G 11188437 91 149 CAATGCCAAGCAGTTTTTGCTGTGATTGAACTTACCTGATGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188203 11188204 11188204 downstr_intron 14 1.411765 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCACAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 27 1491 1 1 1 NA NA 0.9829936 0.9959974 NA NA 0.0170064 0.004002599 NA 0.9894955 NA 0.0105045 NA FALSE NA 0 0.255 . intron_variant MODIFIER NEDD9 HGNC 7733 ENST00000504387 7/7 rs375304031 1 NA G:0.0002 G:0 TCT C,G 8.237e-06 6:11188204 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 intron_variant 1.286224 0.24468 0.10961 0.295142 0.8054022 0.131919 0.5349811 FALSE NA ENSE00001726331_003 ENSE00001726331 003 6 11188416 11188585 - 35 90 45 G A 11188453 93 133 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTAATGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188219 11188220 11188220 exon -3 0.9777778 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATTAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 44 47 1 1 1 NA NA 0.9829936 0.9959974 NA NA 0.0170064 0.004002599 NA 0.9894955 NA 0.0105045 NA FALSE NA 1 8.996 . stop_gained&splice_region_variant HIGH NEDD9 HGNC 7733 ENST00000504387 7/8 1 NA HC TGA G,A 8.237e-06 6:11188220 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 stop_gained 14.47074 0.96351 0.96565 0.706548 0.9979696 0 0.5349811 FALSE 4.06187e-06 ENSE00001726331_004 ENSE00001726331 004 6 11188416 11188585 - 35 90 45 A T 11188454 94 132 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGTTGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188220 11188221 11188221 exon -4 0.9666667 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCAACAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 121 197 1 1 1 NA NA 0.9829936 0.9959974 NA NA 0.0170064 0.004002599 NA 0.9894955 NA 0.0105045 NA FALSE NA 0.995 0.519 . missense_variant MODERATE NEDD9 HGNC 7733 ENST00000504387 7/8 1 tolerated(1) probably_damaging(0.999) NA GAT A,T 8.237e-06 6:11188221 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 missense_variant 2.366071 0.89265 0.72457 0.706548 0.9232504 0 0.5349811 FALSE 4.06174e-06 ENSE00001726331_005 ENSE00001726331 005 6 11188416 11188585 - 35 90 45 T C 11188458 95 128 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGACGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188224 11188225 11188225 exon -8 0.9222222 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACGTCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 231 524 0.9796177 1 0.9898089 NA NA 0.9829936 0.9959974 NA NA -0.003375864 0.004002599 NA 0.9894955 NA 0.0003133676 NA FALSE NA 1 5.624 rs112742585 missense_variant MODERATE NEDD9 HGNC 7733 ENST00000504387 7/8 rs112742585 1 tolerated(0.45) benign(0.234) NA ATG T,C 0.0001236 6:11188225 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 missense_variant 1.467501 0.93576 0.91082 0.706548 0.9100511 0 0.5349811 FALSE 0.000125906 ENSE00001726331_006 ENSE00001726331 006 6 11188416 11188585 - 35 90 45 G A 11188459 96 127 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGATATTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188225 11188226 11188226 exon -9 0.9111111 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAATATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 600 150 0.9975744 1 0.9987872 NA NA 0.9829936 0.9959974 NA NA 0.01458075 0.004002599 NA 0.9894955 NA 0.009291676 NA FALSE NA 1 8.996 . missense_variant MODERATE NEDD9 HGNC 7733 ENST00000504387 7/8 1 deleterious(0.04) probably_damaging(0.974) NA TGT G,A 1.647e-05 6:11188226 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 missense_variant 5.481764 0.96351 0.96559 0.706548 0.9976781 0 0.5349811 FALSE 8.12361e-06 ENSE00001726331_007 ENSE00001726331 007 6 11188416 11188585 - 35 90 45 G T 11188475 97 111 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGATGTTCCAGCTGCATCTTTTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188241 11188242 11188242 exon -25 0.7333333 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAAAAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 255 161 1 1 1 NA NA 0.9829936 0.9959974 NA NA 0.0170064 0.004002599 NA 0.9894955 NA 0.0105045 NA FALSE NA 1 2.57 . missense_variant MODERATE NEDD9 HGNC 7733 ENST00000504387 7/8 COSM1620785&COSM1620783&COSM1620784 1 tolerated(0.06) benign(0.341) NA TGT G,T 8.237e-06 6:11188242 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 missense_variant 3.097213 0.90952 0.85437 0.706548 0.9954018 0 0.5349811 FALSE 8.12341e-06 ENSE00001726331_008 ENSE00001726331 008 6 11188416 11188585 - 35 90 45 C T 11188478 98 108 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGATGTTCCAGCTGCATCTTGTTTTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188244 11188245 11188245 exon -28 0.7 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAAAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 31 138 1 1 1 NA NA 0.9829936 0.9959974 NA NA 0.0170064 0.004002599 NA 0.9894955 NA 0.0105045 NA FALSE NA 1 1.38 . synonymous_variant LOW NEDD9 HGNC 7733 ENST00000504387 7/8 1 NA TCT C,T 1.647e-05 6:11188245 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 synonymous_variant 1.364199 0.93463 0.81612 0.706548 0.7269671 0 0.5349811 FALSE 4.06151e-06 ENSE00001726331_011 ENSE00001726331 011 6 11188416 11188585 - 35 90 45 T C 11188522 101 64 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCCCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188288 11188289 11188289 exon 19 0.2111111 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGGGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 88 50 0.9995314 1 0.9997657 NA NA 0.9829936 0.9959974 NA NA 0.0165378 0.004002599 NA 0.9894955 NA 0.0102702 NA FALSE NA 1 2.334 rs146696732 missense_variant MODERATE NEDD9 HGNC 7733 ENST00000504387 7/8 1 deleterious(0) possibly_damaging(0.894) NA CTC T,C 8.237e-06 6:11188289 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 missense_variant 5.451921 0.90575 0.82935 0.706548 0.9957629 0 0.5349811 FALSE NA ENSE00001726331_014 ENSE00001726331 014 6 11188416 11188585 - 35 90 45 C T 11188539 104 47 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTATCCTGTTAATTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188305 11188306 11188306 exon 2 0.02222222 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGATAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 271 541 0.999848 0.8763781 0.9381131 NA NA 0.9829936 0.9959974 NA NA 0.01685444 -0.1196193 NA 0.9894955 NA -0.05138243 NA FALSE NA 1 7.116 . missense_variant&splice_region_variant MODERATE NEDD9 HGNC 7733 ENST00000504387 7/8 1 deleterious(0) probably_damaging(1) NA ACC C,T 1.647e-05 6:11188306 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 missense_variant 6.952252 0.96228 0.94862 0.706548 0.9986047 0 0.5349811 FALSE 8.12665e-06 ENSE00001726331_015 ENSE00001726331 015 6 11188416 11188585 - 35 90 45 A G 11188547 105 39 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAGTTTTCAACATAAAGAACATATTATGTCATCACTGTGAT 11188182 11188352 11188313 11188314 11188314 upstr_intron -7 -0.1333333 ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAACTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 370 372 0.9962513 1 0.9981256 NA NA 0.9829936 0.9959974 NA NA 0.01325768 0.004002599 NA 0.9894955 NA 0.008630138 NA FALSE NA 1 1.19 . splice_region_variant&intron_variant LOW NEDD9 HGNC 7733 ENST00000504387 6/7 rs200766649 1 NA G:0 G:0.0003 AAT A,G 0.0002389 6:11188314 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 splice_region_variant 1.479979 0.89016 0.6726 0.099367 0.8734616 0.407001 0.5349811 FALSE 0.000223554 ENSE00001726331_017 ENSE00001726331 017 6 11188416 11188585 - 35 90 45 G A 11188572 107 14 CAATGCCAAGCAGTTTTTGCTCTGATTGAACTTACCTGATGATGTTCCAGCTGCATCTTGTTCTGTTTCATGATATTCTCTTTTTCCAATAGCTCTTTCTGTTGCCTCTCAAACTCCTCCTTACCCTGTTAATTTTCAACATAAAGAACATATTATATCATCACTGTGAT 11188182 11188352 11188338 11188339 11188339 upstr_intron -32 -0.6888889 ATCACAGTGATGATATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG ATCACAGTGATGACATAATATGTTCTTTATGTTGAAAATTAACAGGGTAAGGAGGAGTTTGAGAGGCAACAGAAAGAGCTATTGGAAAAAGAGAATATCATGAAACAGAACAAGATGCAGCTGGAACATCATCAGGTAAGTTCAATCAGAGCAAAAACTGCTTGGCATTG mutant NA NA NA NA NA 31 678 1 0.996266 0.998133 NA NA 0.9829936 0.9959974 NA NA 0.0170064 0.0002685905 NA 0.9894955 NA 0.008637493 NA FALSE NA 0.002 -0.251 . intron_variant MODIFIER NEDD9 HGNC 7733 ENST00000504387 6/7 rs376429182 1 NA A:0 A:0.0003 TGT G,A 0.0002801 6:11188339 NEDD9 HGNC Symbol protein_coding 199050 ENSG00000111859 ENSE00003549051 intron_variant 0.01081 0.15644 0.02408 0.099367 0.4098682 0.0791417 0.5349811 FALSE 0.000231862 ENSE00001734773_004 ENSE00001734773 004 10 102268732 102268901 - 32 96 42 G A 102268753 2339 149 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCATCCCCACTACCCAACCCTGGAG 100508974 100509144 100508995 100508996 100508996 downstr_intron 11 1.354839 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCATCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 262 1282 1 1 1 NA NA 0.9072387 0.999501 NA NA 0.09276127 0.0004990307 NA 0.9533698 NA 0.04663015 NA FALSE NA 0.001 0.436 . intron_variant&NMD_transcript_variant MODIFIER SEC31B HGNC 23197 ENST00000469546 4/20 1 NA GGT G,A 8.236e-06 10:100508996 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 intron_variant 0.126317 0.20779 0.21143 0 0.4239361 0.0784874 1.300616e-24 FALSE 4.06491e-06 ENSE00001734773_005 ENSE00001734773 005 10 102268732 102268901 - 32 96 42 T A 102268754 2340 148 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCTCCCCCACTACCCAACCCTGGAG 100508974 100509144 100508996 100508997 100508997 downstr_intron 10 1.322581 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCTCCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 1661 317 0.9997023 1 0.9998512 NA NA 0.9072387 0.999501 NA NA 0.09246358 0.0004990307 NA 0.9533698 NA 0.0464813 NA FALSE NA 0 -2.523 . intron_variant&NMD_transcript_variant MODIFIER SEC31B HGNC 23197 ENST00000469546 4/20 1 NA GTG T,A 8.236e-06 10:100508997 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 intron_variant -0.551469 0.08382 0.03381 0 0.1454362 0.0886797 1.300616e-24 FALSE 4.0661e-06 ENSE00001734773_007 ENSE00001734773 007 10 102268732 102268901 - 32 96 42 C T 102268763 2342 139 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGATGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509005 100509006 100509006 downstr_intron 1 1.032258 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGATGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 199 269 0 0.1634417 0.08172087 NA NA 0.9072387 0.999501 NA NA -0.9072387 -0.8360592 NA 0.9533698 NA -0.871649 NA TRUE NA 1 7.774 . splice_donor_variant&NMD_transcript_variant HIGH SEC31B HGNC 23197 ENST00000469546 4/20 1 NA ACC C,T 2.471e-05 10:100509006 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 splice_donor_variant 4.295503 0.95562 0.95505 0 0.9908571 0.866239 1.300616e-24 FALSE 1.62532e-05 ENSE00001734773_008 ENSE00001734773 008 10 102268732 102268901 - 32 96 42 G A 102268768 2343 134 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTTACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509010 100509011 100509011 exon -5 0.9583333 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTTACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 454 905 1 0.9956778 0.9978389 NA NA 0.9072387 0.999501 NA NA 0.09276127 -0.003823188 NA 0.9533698 NA 0.04446904 NA FALSE NA 1 6.737 . missense_variant&NMD_transcript_variant MODERATE SEC31B HGNC 23197 ENST00000469546 4/21 rs377145382 1 deleterious(0) benign(0.005) NA A:0 A:0.0001 TGA G,A 2.471e-05 10:100509011 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 missense_variant 3.472852 0.92654 0.92654 0.712529 0.9935625 0 1.300616e-24 FALSE 1.62518e-05 ENSE00001734773_010 ENSE00001734773 010 10 102268732 102268901 - 32 96 42 T A 102268771 2345 131 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCATGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509013 100509014 100509014 exon -8 0.9270833 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCATGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 165 168 1 1 1 NA NA 0.9072387 0.999501 NA NA 0.09276127 0.0004990307 NA 0.9533698 NA 0.04663015 NA FALSE NA 1 7.995 . missense_variant&NMD_transcript_variant MODERATE SEC31B HGNC 23197 ENST00000469546 4/21 1 deleterious(0) probably_damaging(0.968) NA CTT T,A 3.295e-05 10:100509014 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 missense_variant 5.781927 0.96522 0.9638 0.712529 0.993818 0 1.300616e-24 FALSE 4.87539e-05 ENSE00001734773_012 ENSE00001734773 012 10 102268732 102268901 - 32 96 42 T C 102268787 2347 115 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAGTGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509029 100509030 100509030 exon -24 0.7604167 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAGTGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 263 302 1 1 1 NA NA 0.9072387 0.999501 NA NA 0.09276127 0.0004990307 NA 0.9533698 NA 0.04663015 NA FALSE NA 1 2.373 . missense_variant&NMD_transcript_variant MODERATE SEC31B HGNC 23197 ENST00000469546 4/21 1 deleterious(0.03) benign(0.003) NA ATT T,C 8.236e-06 10:100509030 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 missense_variant 0.958029 0.91412 0.86137 0.712529 0.8460879 0 1.300616e-24 FALSE 8.12348e-06 ENSE00001734773_015 ENSE00001734773 015 10 102268732 102268901 - 32 96 42 T C 102268804 2350 98 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAGTAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509046 100509047 100509047 exon -41 0.5833333 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAGTAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 50 123 0.999174 0.99969 0.999432 NA NA 0.9072387 0.999501 NA NA 0.09193528 0.000189025 NA 0.9533698 NA 0.04606215 NA FALSE NA 1 5.162 . missense_variant&NMD_transcript_variant MODERATE SEC31B HGNC 23197 ENST00000469546 4/21 rs573384679 1 deleterious(0.04) benign(0.107) NA ATT T,C 8.236e-06 10:100509047 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 missense_variant 0.72921 0.93197 0.90766 0.743674 0.99717 0 1.300616e-24 FALSE 4.0622e-06 ENSE00001734773_016 ENSE00001734773 016 10 102268732 102268901 - 32 96 42 C T 102268806 2351 96 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTAAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509048 100509049 100509049 exon -43 0.5625 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTAAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 551 155 0.7792501 0.9688926 0.8740714 NA NA 0.9072387 0.999501 NA NA -0.1279887 -0.03060832 NA 0.9533698 NA -0.0792985 NA FALSE NA 1 1.253 . synonymous_variant&NMD_transcript_variant LOW SEC31B HGNC 23197 ENST00000469546 4/21 1 NA TCA C,T 8.236e-06 10:100509049 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 stop_retained_variant 0.680512 0.89598 0.74825 0.743674 0.653139 0 1.300616e-24 FALSE 4.06213e-06 ENSE00001734773_018 ENSE00001734773 018 10 102268732 102268901 - 32 96 42 C T 102268832 2353 70 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCAATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509074 100509075 100509075 exon 28 0.2916667 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCAATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 352 518 0.9885514 1 0.9942757 NA NA 0.9072387 0.999501 NA NA 0.08131264 0.0004990307 NA 0.9533698 NA 0.04090584 NA FALSE NA 1 3.373 . missense_variant&NMD_transcript_variant MODERATE SEC31B HGNC 23197 ENST00000469546 4/21 rs201580903 1 tolerated(0.27) benign(0.323) T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 TCG C,T 0.0002224 10:100509075 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 missense_variant 2.514967 0.79017 0.85063 0.743674 0.9891628 0 1.300616e-24 FALSE 0.000182821 ENSE00001734773_019 ENSE00001734773 019 10 102268732 102268901 - 32 96 42 T C 102268855 2354 47 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAGCCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509097 100509098 100509098 exon 5 0.05208333 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAGCCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 184 513 1 0.848631 0.9243155 NA NA 0.9072387 0.999501 NA NA 0.09276127 -0.1508699 NA 0.9533698 NA -0.02905433 NA FALSE NA 1 8.042 rs143075774 missense_variant&NMD_transcript_variant MODERATE SEC31B HGNC 23197 ENST00000469546 4/21 rs143075774 1 deleterious(0.03) possibly_damaging(0.7) NA C:0 C:0.0001 GTT T,C 0.00014 10:100509098 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 missense_variant 3.973588 0.96695 0.98358 0.743674 0.9987257 0 1.300616e-24 FALSE 0.000121984 ENSE00001734773_020 ENSE00001734773 020 10 102268732 102268901 - 32 96 42 G T 102268857 2355 45 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGAAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509099 100509100 100509100 exon 3 0.03125 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGAAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 118 347 0.9905645 0.9966404 0.9936025 NA NA 0.9072387 0.999501 NA NA 0.08332576 -0.002860549 NA 0.9533698 NA 0.0402326 NA FALSE NA 0.032 0.071 . splice_region_variant&synonymous_variant&NMD_transcript_variant LOW SEC31B HGNC 23197 ENST00000469546 4/21 1 NA TGC G,T 8.236e-06 10:100509100 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 missense_variant 1.008284 0.93617 0.69652 0.743674 0.985576 0 1.300616e-24 FALSE 4.06699e-06 ENSE00001734773_023 ENSE00001734773 023 10 102268732 102268901 - 32 96 42 T C 102268880 2358 22 TTCCTAGGGTGGTATGTCTCCGAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509122 100509123 100509123 upstr_intron -21 -0.4761905 TTCCTAGGGTGGTATGTCTCCGAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 50 125 0.9745291 0.9580116 0.9662704 NA NA 0.9072387 0.999501 NA NA 0.06729041 -0.04148938 NA 0.9533698 NA 0.01290051 NA FALSE NA 0.002 0.481 . intron_variant&NMD_transcript_variant MODIFIER SEC31B HGNC 23197 ENST00000469546 3/20 rs199988601 1 C:0.0002 C:0.0008 C:0 NA C:0 C:0 C:0 C:0.0016 C:0 TTG T,C 0.0001318 10:100509123 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 intron_variant -0.227902 0.2173 0.48784 0.055872 0.5736759 0.0676726 1.300616e-24 FALSE 8.55676e-05 ENSE00001734773_026 ENSE00001734773 026 10 102268732 102268901 - 32 96 42 C T 102268890 2361 12 TTCCTAGGGTGATATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509132 100509133 100509133 upstr_intron -31 -0.7142857 TTCCTAGGGTGATATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 582 212 0.9981469 1 0.9990734 NA NA 0.9072387 0.999501 NA NA 0.09090816 0.0004990307 NA 0.9533698 NA 0.0457036 NA FALSE NA 0 0.337 rs147993681 intron_variant&NMD_transcript_variant MODIFIER SEC31B HGNC 23197 ENST00000469546 3/20 rs147993681 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0008 ACC C,T 0.0003377 10:100509133 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 intron_variant 0.432615 0.29268 0.22507 0.055872 0.4202432 0.0602045 1.300616e-24 FALSE 0.000383692 ENSE00001735670_002 ENSE00001735670 002 16 20648654 20648823 - 39 81 50 A G 20648675 1250 149 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCACTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637352 20637353 20637353 downstr_intron 18 1.473684 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCACTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 184 200 0.9975134 1 0.9987567 0.9582316 0.9336565 0.9473321 0.9824969 NA NA 0.05018131 0.01750307 0.945944 0.9649145 NA 0.03384219 NA FALSE NA 0 -1.815 . intron_variant MODIFIER ACSM1 HGNC 18049 ENST00000524149 4/7 1 NA AAT A,G 8.236e-06 16:20637353 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 non_coding_transcript_exon_variant 0.378276 0.12744 0.0439 0.055872 0.5503918 0.0488638 4.367484e-09 FALSE 4.06174e-06 ENSE00001735670_003 ENSE00001735670 003 16 20648654 20648823 - 39 81 50 C G 20648679 1251 145 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGCGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637356 20637357 20637357 downstr_intron 14 1.368421 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGCGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 253 554 1 0.9931953 0.9965977 0.9582316 0.9336565 0.9473321 0.9824969 NA NA 0.05266787 0.01069838 0.945944 0.9649145 NA 0.03168312 NA FALSE NA 0 -0.501 . intron_variant MODIFIER ACSM1 HGNC 18049 ENST00000524149 4/7 rs373231655 1 NA G:0 G:0.0001 CCC C,G 8.236e-06 16:20637357 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 non_coding_transcript_exon_variant 0.270235 0.18133 0.10074 0.055872 0.594591 0.0828177 4.367484e-09 FALSE 4.06167e-06 ENSE00001735670_006 ENSE00001735670 006 16 20648654 20648823 - 39 81 50 T C 20648694 1254 130 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCGGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637371 20637372 20637372 exon -2 0.9876543 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCGGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant 306 109 0.05059854 0 0.02529927 187 603 0 0.02036696 0.01018348 0.9582316 0.9336565 0.9473321 0.9824969 -0.907633 -0.9336565 -0.9473321 -0.96213 0.945944 0.9649145 -0.9206448 -0.9547311 0.03408629 TRUE TRUE 1 3.932 . missense_variant&splice_region_variant MODERATE ACSM1 HGNC 18049 ENST00000524149 4/8 rs200585527 1 tolerated(0.1) probably_damaging(0.999) C:0.0004 C:0 C:0 NA C:0.002 C:0 C:0 CTG T,C 4.118e-05 16:20637372 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 missense_variant 3.352987 0.92122 0.83258 0.65861 0.9956934 0 4.367484e-09 FALSE 3.65506e-05 ENSE00001735670_008 ENSE00001735670 008 16 20648654 20648823 - 39 81 50 G A 20648699 1256 125 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGATGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637376 20637377 20637377 exon -7 0.9259259 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGATGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 250 384 0.8 0.8188917 0.8094458 0.9582316 0.9336565 0.9473321 0.9824969 NA NA -0.1473321 -0.1636052 0.945944 0.9649145 NA -0.1554687 NA FALSE NA 0.002 -0.021 rs111406824 synonymous_variant LOW ACSM1 HGNC 18049 ENST00000524149 4/8 rs111406824 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 A:0 A:0.0001 CGT G,A 0.0001153 16:20637377 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 synonymous_variant 0.423808 0.18937 0.05036 0.65861 0.6031496 0 4.367484e-09 FALSE 0.000134018 ENSE00001735670_009 ENSE00001735670 009 16 20648654 20648823 - 39 81 50 C T 20648701 1257 123 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACAACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637378 20637379 20637379 exon -9 0.9012346 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACAACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 482 522 0.948222 0.9495097 0.9488658 0.9582316 0.9336565 0.9473321 0.9824969 NA NA 0.000889846 -0.03298725 0.945944 0.9649145 NA -0.0160487 NA FALSE NA 0.041 1.599 rs148127157 missense_variant MODERATE ACSM1 HGNC 18049 ENST00000524149 4/8 rs148127157 1 tolerated(0.07) benign(0.271) T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0.0025 T:0.0001 TCG C,T 0.0002059 16:20637379 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 missense_variant 2.975118 0.21934 0.14144 0.65861 0.9965331 0 4.367484e-09 FALSE 0.000138081 ENSE00001735670_011 ENSE00001735670 011 16 20648654 20648823 - 39 81 50 G A 20648707 1259 117 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCATCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637384 20637385 20637385 exon -15 0.8271605 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCATCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 114 33 1 1 1 0.9582316 0.9336565 0.9473321 0.9824969 NA NA 0.05266787 0.01750307 0.945944 0.9649145 NA 0.03508547 NA FALSE NA 0.966 1.667 rs148402699 missense_variant MODERATE ACSM1 HGNC 18049 ENST00000524149 4/8 rs148402699 1 tolerated(0.1) probably_damaging(1) NA A:0.0002 A:0.0001 GGT G,A 3.295e-05 16:20637385 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 missense_variant 2.551953 0.36792 0.52333 0.65861 0.9760686 0 4.367484e-09 FALSE 2.03054e-05 ENSE00001735670_012 ENSE00001735670 012 16 20648654 20648823 - 39 81 50 A G 20648711 1260 113 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACCCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637388 20637389 20637389 exon -19 0.7777778 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACCCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant 60 53 0.85 0.85 0.85 NA NA NA NA NA 0.9582316 0.9336565 0.9473321 0.9824969 -0.1082316 -0.0836565 NA NA 0.945944 0.9649145 -0.09594404 NA NA NA FALSE 0 -0.517 . synonymous_variant LOW ACSM1 HGNC 18049 ENST00000524149 4/8 1 NA GAG A,G 8.236e-06 16:20637389 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 synonymous_variant -0.668369 0.15103 0.0109 0.65861 0.4455516 0 4.367484e-09 FALSE 4.06098e-06 ENSE00001735670_014 ENSE00001735670 014 16 20648654 20648823 - 39 81 50 C T 20648730 1262 94 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGATTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637407 20637408 20637408 exon -38 0.5432099 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGATTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 202 52 1 1 1 0.9582316 0.9336565 0.9473321 0.9824969 NA NA 0.05266787 0.01750307 0.945944 0.9649145 NA 0.03508547 NA FALSE NA 0.994 3.833 . missense_variant MODERATE ACSM1 HGNC 18049 ENST00000524149 4/8 1 deleterious(0.02) possibly_damaging(0.449) NA ACC C,T 8.236e-06 16:20637408 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 missense_variant 4.726918 0.55262 0.72579 0.65861 0.9968963 0 4.367484e-09 FALSE 4.06138e-06 ENSE00001735670_015 ENSE00001735670 015 16 20648654 20648823 - 39 81 50 C T 20648732 1263 92 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCAGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637409 20637410 20637410 exon -40 0.5185185 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCAGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 30 244 0.8 0.9721482 0.8860741 0.9582316 0.9336565 0.9473321 0.9824969 NA NA -0.1473321 -0.01034877 0.945944 0.9649145 NA -0.07884045 NA FALSE NA 0 -7.157 . synonymous_variant LOW ACSM1 HGNC 18049 ENST00000524149 4/8 rs368774746&COSM557017&COSM557018 1 NA T:0 T:0.0001 CCG C,T 8.236e-05 16:20637410 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 synonymous_variant 1.08825 0.12489 0.0092 0.65861 0.4895225 0 4.367484e-09 FALSE 6.49788e-05 ENSE00001735670_017 ENSE00001735670 017 16 20648654 20648823 - 39 81 50 A G 20648745 1265 79 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAACGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637422 20637423 20637423 exon 29 0.3580247 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAACGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 132 14 1 1 1 0.9582316 0.9336565 0.9473321 0.9824969 NA NA 0.05266787 0.01750307 0.945944 0.9649145 NA 0.03508547 NA FALSE NA 0.619 0.332 . missense_variant MODERATE ACSM1 HGNC 18049 ENST00000524149 4/8 1 tolerated(0.1) benign(0.034) NA CAT A,G 8.236e-06 16:20637423 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 missense_variant -0.140267 0.26904 0.08083 0.65861 0.8465529 0 4.367484e-09 FALSE 8.12328e-06 ENSE00001735670_023 ENSE00001735670 023 16 20648654 20648823 - 39 81 50 T G 20648801 1271 23 ATCAGCCTGGCCTCTCTGATCACCCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637478 20637479 20637479 upstr_intron -28 -0.54 ATCAGCCTGGCCTCTCTGATCACCCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant 19 11 0.85 0.85 0.85 NA NA NA NA NA 0.9582316 0.9336565 0.9473321 0.9824969 -0.1082316 -0.0836565 NA NA 0.945944 0.9649145 -0.09594404 NA NA NA FALSE 0.002 0.07 . intron_variant MODIFIER ACSM1 HGNC 18049 ENST00000524149 3/7 1 NA GTT T,G 8.236e-06 16:20637479 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 intron_variant 0.294498 0.17942 0.07574 0.088285 0.5940794 0.0455235 4.367484e-09 FALSE 8.13855e-06 ENSE00001735670_024 ENSE00001735670 024 16 20648654 20648823 - 39 81 50 G A 20648803 1272 21 ATCAGCCTGGCCTCTCTGATTAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637480 20637481 20637481 upstr_intron -30 -0.58 ATCAGCCTGGCCTCTCTGATTAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 359 113 1 1 1 0.9582316 0.9336565 0.9473321 0.9824969 NA NA 0.05266787 0.01750307 0.945944 0.9649145 NA 0.03508547 NA FALSE NA 0.018 1.029 . intron_variant MODIFIER ACSM1 HGNC 18049 ENST00000524149 3/7 1 NA TGA G,A 8.236e-06 16:20637481 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 intron_variant 0.352429 0.26067 0.17129 0.055872 0.5611209 0.0455235 4.367484e-09 FALSE 4.0712e-06 ENSE00001735670_025 ENSE00001735670 025 16 20648654 20648823 - 39 81 50 A T 20648807 1273 17 ATCAGCCTGGCCTCTCAGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637484 20637485 20637485 upstr_intron -34 -0.66 ATCAGCCTGGCCTCTCAGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant 12 11 0.8029298 0.85 0.8264649 31 59 0.8083383 0.9081802 0.8582593 0.9582316 0.9336565 0.9473321 0.9824969 -0.1553017 -0.0836565 -0.1389938 -0.07431676 0.945944 0.9649145 -0.1194791 -0.1066553 0.01282384 FALSE FALSE 0.001 1.578 . intron_variant MODIFIER ACSM1 HGNC 18049 ENST00000524149 3/7 1 NA CAG A,T 8.236e-06 16:20637485 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 intron_variant 0.119217 0.25544 0.25079 0.055872 0.6489715 0.0796533 4.367484e-09 FALSE 4.07229e-06 ENSE00001735670_026 ENSE00001735670 026 16 20648654 20648823 - 39 81 50 G T 20648813 1274 11 ATCAGCCTGGACTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637490 20637491 20637491 upstr_intron -40 -0.78 ATCAGCCTGGACTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant NA NA NA NA NA 154 852 1 0.9970427 0.9985214 0.9582316 0.9336565 0.9473321 0.9824969 NA NA 0.05266787 0.01454579 0.945944 0.9649145 NA 0.03360683 NA FALSE NA 0 -0.173 . intron_variant MODIFIER ACSM1 HGNC 18049 ENST00000524149 3/7 1 NA GGC G,T 8.236e-06 16:20637491 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 intron_variant -0.371689 0.10633 0.00188 0.055872 0.3692416 0.0455235 4.367484e-09 FALSE 4.07574e-06 ENSE00001735786_001 ENSE00001735786 001 9 4567628 4567797 + 41 99 30 T G 4567639 119 12 CTTTTTTTGTTGGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567638 4567639 4567639 upstr_intron -30 -0.7073171 CTTTTTTTGTTGGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 109 179 1 1 1 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.009375334 NA 0.9849903 NA 0.01500974 NA FALSE NA 0.064 1.329 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 rs200317392 1 G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 TTG T,G 4.119e-05 9:4567639 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 intron_variant 0.376721 0.27751 0.2208 0.295142 0.5390739 0.0868124 0.001271167 FALSE 2.10972e-05 ENSE00001735786_002 ENSE00001735786 002 9 4567628 4567797 + 41 99 30 G A 4567644 120 17 CTTTTTTTGTTTGCTTATCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567643 4567644 4567644 upstr_intron -25 -0.5853659 CTTTTTTTGTTTGCTTATCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 362 856 0.9913798 0.9962705 0.9938251 NA NA 0.9793559 0.9906247 NA NA 0.01202391 0.005645836 NA 0.9849903 NA 0.008834874 NA FALSE NA 0 -0.068 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA TGT G,A 8.238e-06 9:4567644 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 intron_variant -0.06155 0.21567 0.08221 0.295142 0.4620136 0.0868124 0.001271167 FALSE 4.15832e-06 ENSE00001735786_003 ENSE00001735786 003 9 4567628 4567797 + 41 99 30 C T 4567646 121 19 CTTTTTTTGTTTGCTTGTTCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567645 4567646 4567646 upstr_intron -23 -0.5365854 CTTTTTTTGTTTGCTTGTTCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 180 995 1 1 1 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.009375334 NA 0.9849903 NA 0.01500974 NA FALSE NA 0 -0.227 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA TCC C,T 6.591e-05 9:4567646 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 intron_variant 0.194067 0.19326 0.01969 0.295142 0.4624433 0.0868124 0.001271167 FALSE 9.93896e-05 ENSE00001735786_004 ENSE00001735786 004 9 4567628 4567797 + 41 99 30 C T 4567662 122 35 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAATATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567661 4567662 4567662 upstr_intron -7 -0.1463415 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAATATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 20 279 1 0.9955121 0.9977561 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.00488746 NA 0.9849903 NA 0.0127658 NA FALSE NA 0 -0.713 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA ACA C,T 1.647e-05 9:4567662 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 splice_region_variant 1.189713 0.19526 0.02611 0.156188 0.7775552 0.199803 0.001271167 FALSE 8.18994e-06 ENSE00001735786_007 ENSE00001735786 007 9 4567628 4567797 + 41 99 30 T C 4567677 125 50 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACCAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567676 4567677 4567677 exon 9 0.09090909 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACCAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 289 10 0.9814621 0.95 0.9657311 NA NA 0.9793559 0.9906247 NA NA 0.002106268 -0.04062467 NA 0.9849903 NA -0.0192592 NA FALSE NA 0.876 0.054 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA CTA T,C 8.237e-06 9:4567677 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 synonymous_variant 0.420494 0.86327 0.07796 0.706298 0.7299433 0 0.001271167 FALSE 4.07834e-06 ENSE00001735786_012 ENSE00001735786 012 9 4567628 4567797 + 41 99 30 G A 4567692 130 65 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTAAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567691 4567692 4567692 exon 24 0.2424242 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTAAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 110 514 0.9815877 0.9991814 0.9903846 NA NA 0.9793559 0.9906247 NA NA 0.002231885 0.008556708 NA 0.9849903 NA 0.005394296 NA FALSE NA 0.99 1.977 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA TGA G,A 8.237e-06 9:4567692 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 synonymous_variant 1.115102 0.87562 0.74328 0.706298 0.7866767 0 0.001271167 FALSE 8.1487e-06 ENSE00001735786_018 ENSE00001735786 018 9 4567628 4567797 + 41 99 30 A G 4567710 136 83 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCGGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567709 4567710 4567710 exon 42 0.4242424 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCGGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 327 324 0.999531 0.984259 0.991895 NA NA 0.9793559 0.9906247 NA NA 0.02017519 -0.00636565 NA 0.9849903 NA 0.006904768 NA FALSE NA 0.001 -0.228 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 rs542017369 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 CAG A,G 0.000173 9:4567710 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 synonymous_variant -0.424644 0.22244 0.05219 0.706548 0.5812281 0 0.001271167 FALSE 0.000126209 ENSE00001735786_019 ENSE00001735786 019 9 4567628 4567797 + 41 99 30 G C 4567711 137 84 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCACAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567710 4567711 4567711 exon 43 0.4343434 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCACAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 51 102 1 0.9965698 0.9982849 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.005945097 NA 0.9849903 NA 0.01329462 NA FALSE NA 0.241 3.253 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 COSM1109304 1 NA AGA G,C 1.647e-05 9:4567711 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant -0.402486 0.3406 0.39604 0.706548 0.564054 0 0.001271167 FALSE 1.62851e-05 ENSE00001735786_021 ENSE00001735786 021 9 4567628 4567797 + 41 99 30 A G 4567720 139 93 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACGTGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567719 4567720 4567720 exon -48 0.5252525 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACGTGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 224 30 1 1 1 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.009375334 NA 0.9849903 NA 0.01500974 NA FALSE NA 0 -0.385 rs143686505 downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 rs143686505 1 NA G:0 G:0.0001 CAT A,G 8.237e-06 9:4567720 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant -1.958458 0.22884 0.08151 0.706548 0.6248628 0 0.001271167 FALSE 8.14518e-06 ENSE00001735786_023 ENSE00001735786 023 9 4567628 4567797 + 41 99 30 C T 4567742 141 115 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGTTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567741 4567742 4567742 exon -26 0.7474747 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGTTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 640 110 0.9989666 0.9985595 0.9987631 NA NA 0.9793559 0.9906247 NA NA 0.01961073 0.007934853 NA 0.9849903 NA 0.01377279 NA FALSE NA 0 -0.466 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA GCT C,T 8.237e-06 9:4567742 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant 0.841991 0.23824 0.09145 0.741868 0.8870526 0 0.001271167 FALSE 4.07385e-06 ENSE00001735786_024 ENSE00001735786 024 9 4567628 4567797 + 41 99 30 T C 4567743 142 116 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCCGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567742 4567743 4567743 exon -25 0.7575758 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCCGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 12 663 1 0.9987778 0.9993889 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.008153112 NA 0.9849903 NA 0.01439862 NA FALSE NA 0 0.01 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA CTG T,C 8.237e-06 9:4567743 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 synonymous_variant -0.11853 0.20211 0.02401 0.741868 0.6030345 0 0.001271167 FALSE 4.07395e-06 ENSE00001735786_025 ENSE00001735786 025 9 4567628 4567797 + 41 99 30 C T 4567746 143 119 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTTATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567745 4567746 4567746 exon -22 0.7878788 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTTATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 2129 44 0.9980639 0.9377542 0.967909 NA NA 0.9793559 0.9906247 NA NA 0.01870805 -0.05287049 NA 0.9849903 NA -0.01708122 NA FALSE NA 0.016 -0.081 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA TCA C,T 1.647e-05 9:4567746 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 synonymous_variant 0.991407 0.22915 0.08282 0.741868 0.7663326 0 0.001271167 FALSE 8.1491e-06 ENSE00001735786_026 ENSE00001735786 026 9 4567628 4567797 + 41 99 30 T C 4567748 144 121 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCACGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567747 4567748 4567748 exon -20 0.8080808 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCACGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 627 35 0.8857993 1 0.9428996 NA NA 0.9793559 0.9906247 NA NA -0.09355658 0.009375334 NA 0.9849903 NA -0.04209062 NA FALSE NA 1 2.336 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 rs374636530 1 NA C:0 C:0.0002 ATG T,C 1.647e-05 9:4567748 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant -0.166933 0.27266 0.55895 0.741868 0.7163921 0 0.001271167 FALSE 8.14843e-06 ENSE00001735786_027 ENSE00001735786 027 9 4567628 4567797 + 41 99 30 G A 4567749 145 122 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATAACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567748 4567749 4567749 exon -19 0.8181818 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATAACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 121 40 1 1 1 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.009375334 NA 0.9849903 NA 0.01500974 NA FALSE NA 1 2.494 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA TGA G,A 1.647e-05 9:4567749 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant 1.370161 0.38812 0.61439 0.741868 0.7766841 0 0.001271167 FALSE 2.44511e-05 ENSE00001735786_028 ENSE00001735786 028 9 4567628 4567797 + 41 99 30 A G 4567753 146 126 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAGCTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567752 4567753 4567753 exon -15 0.8585859 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAGCTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 298 309 1 0.9811142 0.9905571 NA NA 0.9793559 0.9906247 NA NA 0.02064414 -0.009510485 NA 0.9849903 NA 0.005566826 NA FALSE NA 0.96 1.248 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA AAC A,G 8.237e-06 9:4567753 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant 0.398911 0.75508 0.58343 0.741868 0.9725359 0 0.001271167 FALSE 8.15082e-06 ENSE00001735786_029 ENSE00001735786 029 9 4567628 4567797 + 41 99 30 C G 4567754 147 127 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAAGTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567753 4567754 4567754 exon -14 0.8686869 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAAGTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 2849 273 0.9610153 0.9981669 0.9795911 NA NA 0.9793559 0.9906247 NA NA -0.01834059 0.007542263 NA 0.9849903 NA -0.005399163 NA FALSE NA 0.962 2.234 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 rs377716586 1 NA G:0.0002 G:0 ACT C,G 8.237e-06 9:4567754 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant 1.187624 0.86977 0.80429 0.741868 0.9794469 0 0.001271167 FALSE 8.15248e-06 ENSE00001735786_030 ENSE00001735786 030 9 4567628 4567797 + 41 99 30 T C 4567755 148 128 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACCGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567754 4567755 4567755 exon -13 0.8787879 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACCGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 15 149 1 0.9876128 0.9938064 NA NA 0.9793559 0.9906247 NA NA 0.02064414 -0.003011913 NA 0.9849903 NA 0.008816112 NA FALSE NA 0.898 0.548 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA CTG T,C 8.237e-06 9:4567755 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 synonymous_variant 0.063322 0.74148 0.49474 0.741868 0.6995778 0 0.001271167 FALSE 4.07674e-06 ENSE00001735786_031 ENSE00001735786 031 9 4567628 4567797 + 41 99 30 A G 4567759 149 132 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAGTTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567758 4567759 4567759 exon -9 0.9191919 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAGTTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 1328 227 1 0.9993027 0.9996513 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.008677989 NA 0.9849903 NA 0.01466106 NA FALSE NA 0 -1.482 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA AAT A,G 8.237e-06 9:4567759 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant -2.088632 0.15447 0.01231 0.741868 0.6202215 0 0.001271167 FALSE 1.63135e-05 ENSE00001735786_033 ENSE00001735786 033 9 4567628 4567797 + 41 99 30 A G 4567766 151 139 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAGGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567765 4567766 4567766 exon -2 0.989899 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAGGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 409 333 1 1 1 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.009375334 NA 0.9849903 NA 0.01500974 NA FALSE NA 1 6.002 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 1 NA AAG A,G 4.119e-05 9:4567766 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant 1.568885 0.9541 0.94856 0.741868 0.9799722 0 0.001271167 FALSE 2.04188e-05 ENSE00001735786_036 ENSE00001735786 036 9 4567628 4567797 + 41 99 30 G A 4567786 154 159 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTATTCCTCTTCCC 4567627 4567797 4567785 4567786 4567786 downstr_intron 19 1.655172 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTATTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 33 116 0.8078376 0.994922 0.9013798 NA NA 0.9793559 0.9906247 NA NA -0.1715183 0.004297368 NA 0.9849903 NA -0.08361045 NA FALSE NA 0 -0.031 . downstream_gene_variant MODIFIER SLC1A1 HGNC 10939 ENST00000490167 rs553655713 1 NA TGT G,A 8.238e-06 9:4567786 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 intron_variant 0.220867 0.2007 0.03502 0.114469 0.5495579 0.0743342 0.001271167 FALSE 4.13128e-06 ENSE00001737387_003 ENSE00001737387 003 10 18824988 18825157 + 42 96 32 A C 18825035 461 48 ACTGGATTATGCTGTATATAGAGATAACTTACTGGAGGACACTGAGCCAGTTTATCAGCTGCTACCATCTGGACGTTGAGGTGTTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGGAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536105 18536106 18536106 exon 6 0.0625 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTCCAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 1427 71 0.9983737 0.9955186 0.9969462 1 0.9977024 0.9891743 0.9703498 NA NA 0.009199467 0.02516877 0.9988512 0.9797621 NA 0.01718412 NA FALSE NA 1 2.834 . missense_variant MODERATE CACNB2 HGNC 1402 ENST00000377328 5/7 rs543261732 1 deleterious(0) probably_damaging(1) C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 TAC A,C 8.237e-06 10:18536106 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 missense_variant 5.259498 0.97991 0.91135 0.553676 0.9987932 0 0.001820338 FALSE 4.06537e-06 ENSE00001737387_005 ENSE00001737387 005 10 18824988 18825157 + 42 96 32 G A 18825069 463 82 ACTGGATTATGCTGTATATAGAGATAACTTACTGGAGGACACTGAGCCAGTTTATCAGCTGCTACCATCTGGACGTTGAGGTGTTTAGTTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536139 18536140 18536140 exon 40 0.4166667 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAACTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 742 322 0.9987734 1 0.9993867 1 0.9977024 0.9891743 0.9703498 NA NA 0.009599131 0.02965015 0.9988512 0.9797621 NA 0.01962464 NA FALSE NA 1 8.068 . missense_variant MODERATE CACNB2 HGNC 1402 ENST00000377328 5/7 1 tolerated(0.2) possibly_damaging(0.857) NA AGC G,A 8.237e-06 10:18536140 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 missense_variant 5.528563 0.9924 0.98072 0.553676 0.9988109 0 0.001820338 FALSE 8.12427e-06 ENSE00001737387_006 ENSE00001737387 006 10 18824988 18825157 + 42 96 32 C T 18825075 464 88 ACTGGATTATGCTGTATATAGAGATAACTTACTGGAGGACACTGAGCCAGTTTATCAGCTGCTACCATCTGGACGTTGAGGTATTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536145 18536146 18536146 exon 46 0.4791667 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAATACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 183 1667 1 0.998966 0.999483 1 0.9977024 0.9891743 0.9703498 NA NA 0.01082574 0.02861616 0.9988512 0.9797621 NA 0.01972095 NA FALSE NA 1 7.82 . missense_variant MODERATE CACNB2 HGNC 1402 ENST00000377328 5/7 1 deleterious(0.01) probably_damaging(0.968) NA ACA C,T 8.237e-06 10:18536146 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 missense_variant 5.517035 0.99546 0.98345 0.615465 0.9979825 0 0.001820338 FALSE 8.12407e-06 ENSE00001737387_011 ENSE00001737387 011 10 18824988 18825157 + 42 96 32 A G 18825095 469 108 ACTGGATTATGCTGTATATAGAGATAACTTACTGGAGGACACTGAGCCAGTTTATCAGCTGCCACCATCTGGACGTTGAGGTGTTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536165 18536166 18536166 exon -31 0.6875 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTGGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 482 931 1 0.9967465 0.9983732 1 0.9977024 0.9891743 0.9703498 NA NA 0.01082574 0.02639662 0.9988512 0.9797621 NA 0.01861118 NA FALSE NA 0.906 -0.018 . synonymous_variant LOW CACNB2 HGNC 1402 ENST00000377328 5/7 1 NA TAG A,G 8.237e-06 10:18536166 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 synonymous_variant 0.665394 0.94644 0.4072 0.615465 0.6899168 0 0.001820338 FALSE 4.06184e-06 ENSE00001737387_012 ENSE00001737387 012 10 18824988 18825157 + 42 96 32 A G 18825098 470 111 ACTGGATTATGCTGTATATAGAGATAACTTACTGGAGGACACTGAGCCAGTTTATCAGCCGCTACCATCTGGACGTTGAGGTGTTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536168 18536169 18536169 exon -28 0.71875 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCGGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 231 67 1 1 1 1 0.9977024 0.9891743 0.9703498 NA NA 0.01082574 0.02965015 0.9988512 0.9797621 NA 0.02023795 NA FALSE NA 0.992 0.487 . synonymous_variant LOW CACNB2 HGNC 1402 ENST00000377328 5/7 1 NA CAG A,G 8.237e-06 10:18536169 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 synonymous_variant 0.918218 0.97426 0.8006 0.615465 0.7296496 0 0.001820338 FALSE 4.06174e-06 ENSE00001737387_013 ENSE00001737387 013 10 18824988 18825157 + 42 96 32 A C 18825103 471 116 ACTGGATTATGCTGTATATAGAGATAACTTACTGGAGGACACTGAGCCAGTTTAGCAGCTGCTACCATCTGGACGTTGAGGTGTTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536173 18536174 18536174 exon -23 0.7708333 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGCTAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 150 234 1 1 1 1 0.9977024 0.9891743 0.9703498 NA NA 0.01082574 0.02965015 0.9988512 0.9797621 NA 0.02023795 NA FALSE NA 1 9.343 . missense_variant MODERATE CACNB2 HGNC 1402 ENST00000377328 5/7 COSM916908&COSM916907&COSM1584893 1 deleterious(0) probably_damaging(1) NA GAT A,C 8.237e-06 10:18536174 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 missense_variant 6.210795 0.99401 0.99008 0.615465 0.9961981 0 0.001820338 FALSE 4.06154e-06 ENSE00001737387_016 ENSE00001737387 016 10 18824988 18825157 + 42 96 32 C G 18825121 474 134 ACTGGATTATGCTGTATATAGAGATAACTTACTGGACGACACTGAGCCAGTTTATCAGCTGCTACCATCTGGACGTTGAGGTGTTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536191 18536192 18536192 exon -5 0.9583333 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCGTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 492 135 0.997975 1 0.9989875 1 0.9977024 0.9891743 0.9703498 NA NA 0.00880079 0.02965015 0.9988512 0.9797621 NA 0.01922547 NA FALSE NA 1 7.82 . missense_variant MODERATE CACNB2 HGNC 1402 ENST00000377328 5/7 rs200764884 1 deleterious(0) probably_damaging(0.999) NA CCT C,G 0.0001483 10:18536192 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 missense_variant 6.571186 0.99568 0.98796 0.615465 0.9986002 0 0.001820338 FALSE 0.000199087 ENSE00001737387_017 ENSE00001737387 017 10 18824988 18825157 + 42 96 32 C A 18825124 475 137 ACTGGATTATGCTGTATATAGAGATAACTTACTTGAGGACACTGAGCCAGTTTATCAGCTGCTACCATCTGGACGTTGAGGTGTTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536194 18536195 18536195 exon -2 0.9895833 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCAAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 134 295 1 1 1 1 0.9977024 0.9891743 0.9703498 NA NA 0.01082574 0.02965015 0.9988512 0.9797621 NA 0.02023795 NA FALSE NA 1 4.801 . missense_variant&splice_region_variant MODERATE CACNB2 HGNC 1402 ENST00000377328 5/7 1 deleterious(0.03) possibly_damaging(0.877) NA CCA C,A 8.237e-06 10:18536195 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 missense_variant 6.45242 0.99211 0.96431 0.615465 0.9933317 0 0.001820338 FALSE 4.06352e-06 ENSE00001744245_002 ENSE00001744245 002 18 61327983 61328152 - 51 57 62 G A 61327996 822 157 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCTGAACAGGTCATAG 63660748 63660918 63660761 63660762 63660762 downstr_intron 38 1.76 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCTGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 72 46 1 1 1 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 0.008715374 0.9626145 0.9611698 NA 0.03883025 NA FALSE NA 0.078 0.658 rs138542778 intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 rs138542778 1 A:0.0084 A:0.028 A:0 NA A:0.001 A:0.002 A:0.002 A:0.0259 A:0.0002 CGG A,A 0.003584 18:63660762 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant 0.000502 0.139 0.00805 0.053691 0.2620683 0.0782166 5.093148e-07 FALSE 0.00284007 ENSE00001744245_003 ENSE00001744245 003 18 61327983 61328152 - 51 57 62 G A 61327998 823 155 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCTCCGAACAGGTCATAG 63660748 63660918 63660763 63660764 63660764 downstr_intron 36 1.72 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCTCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 45 13 1 1 1 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 0.008715374 0.9626145 0.9611698 NA 0.03883025 NA FALSE NA 0 -0.644 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 rs371707229 1 NA A:0 A:0.0001 GGG G,A 8.239e-06 18:63660764 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant -0.083445 0.1185 0.0031 0.053691 0.5103906 0.0782166 5.093148e-07 FALSE 8.16853e-06 ENSE00001744245_005 ENSE00001744245 005 18 61327983 61328152 - 51 57 62 G A 61328007 825 146 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGTTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 63660772 63660773 63660773 downstr_intron 27 1.54 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGTTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 130 286 1 0.985918 0.992959 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 -0.00536663 0.9626145 0.9611698 NA 0.03178925 NA FALSE NA 0 -2.322 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA AGC G,A 8.239e-06 18:63660773 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant 0.244795 0.13514 0.02555 0.053691 0.6906998 0.0783175 5.093148e-07 FALSE 4.0808e-06 ENSE00001744245_006 ENSE00001744245 006 18 61327983 61328152 - 51 57 62 C T 61328013 826 140 CTATGACCTGTTCGGGGATCTAAAGCTGAATCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGAAGAGACATGAAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660778 63660779 63660779 downstr_intron 21 1.42 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGATTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 1907 215 0.9994809 0.9998228 0.9996519 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06842605 0.008538169 0.9626145 0.9611698 NA 0.03848211 NA FALSE NA 0 0.164 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 rs368098250 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 ACC C,T 4.943e-05 18:63660779 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant 0.166086 0.14145 0.01207 0.053691 0.6497139 0.0783175 5.093148e-07 FALSE NA ENSE00001744245_007 ENSE00001744245 007 18 61327983 61328152 - 51 57 62 T C 61328016 827 137 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTGTGGTTCAGCTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 63660781 63660782 63660782 downstr_intron 18 1.36 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTGTGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 369 56 0.9926391 1 0.9963195 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.0615842 0.008715374 0.9626145 0.9611698 NA 0.03514979 NA FALSE NA 0 -3.842 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 rs373693198 1 NA C:0.0002 C:0 ATA A,C 8.239e-06 18:63660782 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant -0.451024 0.12431 0.01091 0.053691 0.5797309 0.0775592 5.093148e-07 FALSE 8.15541e-06 ENSE00001744245_010 ENSE00001744245 010 18 61327983 61328152 - 51 57 62 C T 61328033 830 120 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCATATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGAAGAGACATGAAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660798 63660799 63660799 downstr_intron 1 1.02 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATATGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant 213 44 0 0.06039964 0.03019982 NA NA NA NA NA 0.9914732 0.9337557 0.9310549 0.9912846 -0.9914732 -0.8733561 NA NA 0.9626145 0.9611698 -0.9324147 NA NA NA TRUE 0.773 1.454 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 rs79688177 1 T:0.0040 T:0 T:0 NA T:0 T:0 T:0.0204 ACA C,T 0.001565 18:63660799 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 splice_donor_variant 2.542946 0.72926 0.4302 0.053691 0.9637883 0.706536 5.093148e-07 FALSE 0.00140172 ENSE00001744245_011 ENSE00001744245 011 18 61327983 61328152 - 51 57 62 A T 61328039 831 114 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATTTGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGAAGAGACATGAAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660804 63660805 63660805 exon -6 0.9122807 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACAAATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 322 145 0.9964973 1 0.9982486 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06544242 0.008715374 0.9626145 0.9611698 NA 0.0370789 NA FALSE NA 0 -2.131 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA TAT A,T 8.239e-06 18:63660805 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 missense_variant -2.378925 0.10961 0.02375 0.554377 0.3729818 0 5.093148e-07 FALSE 4.07372e-06 ENSE00001744245_012 ENSE00001744245 012 18 61327983 61328152 - 51 57 62 T C 61328040 832 113 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACGTATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 63660805 63660806 63660806 exon -7 0.8947368 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACGTATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 46 157 0.9847471 1 0.9923736 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.05369225 0.008715374 0.9626145 0.9611698 NA 0.03120381 NA FALSE NA 0 -0.469 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA ATG T,C 2.472e-05 18:63660806 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 synonymous_variant -0.840027 0.16827 0.04541 0.554377 0.3854397 0 5.093148e-07 FALSE 2.03673e-05 ENSE00001744245_014 ENSE00001744245 014 18 61327983 61328152 - 51 57 62 C A 61328045 834 108 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTTCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 63660810 63660811 63660811 exon -12 0.8070175 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTTCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 40 226 1 0.9718658 0.9859329 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 -0.01941884 0.9626145 0.9611698 NA 0.02476314 NA FALSE NA 0 -3.425 rs139751574 intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 rs139751574 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0002 A:0.0008 GCA C,A 0.0006508 18:63660811 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 missense_variant -1.497611 0.13304 0.00735 0.554377 0.5147155 0 5.093148e-07 FALSE 0.000545887 ENSE00001744245_015 ENSE00001744245 015 18 61327983 61328152 - 51 57 62 G A 61328059 835 94 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACATCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 63660824 63660825 63660825 exon -26 0.5614035 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACATCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 80 648 0.9747721 0.9963213 0.9855467 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.04371727 0.00503664 0.9626145 0.9611698 NA 0.02437695 NA FALSE NA 0.001 1.397 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA GGT G,A 8.238e-06 18:63660825 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 missense_variant -1.432513 0.15068 0.07299 0.554377 0.6108903 0 5.093148e-07 FALSE 4.07368e-06 ENSE00001744245_018 ENSE00001744245 018 18 61327983 61328152 - 51 57 62 T C 61328067 838 86 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACGGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 63660832 63660833 63660833 exon 24 0.4210526 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACGGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 801 445 1 0.8866706 0.9433353 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 -0.104614 0.9626145 0.9611698 NA -0.01783445 NA FALSE NA 0.033 1.052 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA CTG T,C 8.238e-06 18:63660833 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 synonymous_variant -1.123946 0.14395 0.10199 0.554377 0.4947624 0 5.093148e-07 FALSE 4.07375e-06 ENSE00001744245_019 ENSE00001744245 019 18 61327983 61328152 - 51 57 62 C G 61328072 839 81 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGAGTTGATCAAAGTGAAGAACCTGGAAGAGACATGAAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660837 63660838 63660838 exon 19 0.3333333 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAACTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 1226 329 0.9976902 0.9697527 0.9837214 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.0666353 -0.02153197 0.9626145 0.9611698 NA 0.02255166 NA FALSE NA 0 -1.662 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA ACT C,G 8.238e-06 18:63660838 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 missense_variant -0.549355 0.14857 0.0508 0.554377 0.5295057 0 5.093148e-07 FALSE NA ENSE00001744245_020 ENSE00001744245 020 18 61327983 61328152 - 51 57 62 C T 61328078 840 75 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATTAAAGTGAAGAACCTGGAAGAGACATGAAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660843 63660844 63660844 exon 13 0.2280702 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTAATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 535 68 0.9996148 1 0.9998074 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06855988 0.008715374 0.9626145 0.9611698 NA 0.03863763 NA FALSE NA 0 -0.347 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA TCA C,T 1.648e-05 18:63660844 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 missense_variant -1.777224 0.10475 0.00477 0.554377 0.6136873 0 5.093148e-07 FALSE 8.14896e-06 ENSE00001744245_022 ENSE00001744245 022 18 61327983 61328152 - 51 57 62 A G 61328095 842 58 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGGAGAGACATGAAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660860 63660861 63660861 upstr_intron -5 -0.06451613 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTCCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 441 234 1 1 1 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 0.008715374 0.9626145 0.9611698 NA 0.03883025 NA FALSE NA 0.964 1.484 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 rs567126707 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GAA A,G 8.241e-06 18:63660861 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 splice_region_variant -0.014548 0.22743 0.36656 0.053691 0.7593076 0.112492 5.093148e-07 FALSE 4.07561e-06 ENSE00001744245_023 ENSE00001744245 023 18 61327983 61328152 - 51 57 62 G T 61328099 843 54 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGAAGATACATGAAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660864 63660865 63660865 upstr_intron -9 -0.1290323 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTATCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 73 515 0.9994349 1 0.9997174 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06838001 0.008715374 0.9626145 0.9611698 NA 0.03854769 NA FALSE NA 0.708 0.201 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 rs372402605 1 NA T:0.0009 T:0 AGA G,T 4.945e-05 18:63660865 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant -0.213328 0.23615 0.36346 0.053691 0.7915449 0.108784 5.093148e-07 FALSE 4.07618e-05 ENSE00001744245_026 ENSE00001744245 026 18 61327983 61328152 - 51 57 62 A G 61328105 846 48 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGAAGAGACATGGAGCGGGACAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660870 63660871 63660871 upstr_intron -15 -0.2258065 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTCCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 203 257 1 1 1 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 0.008715374 0.9626145 0.9611698 NA 0.03883025 NA FALSE NA 0 -0.634 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA GAA A,G 8.242e-06 18:63660871 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant 0.095538 0.13589 0.02438 0.053691 0.4982153 0.101342 5.093148e-07 FALSE 8.15481e-06 ENSE00001744245_030 ENSE00001744245 030 18 61327983 61328152 - 51 57 62 C T 61328113 850 40 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGAAGAGACATGAAGCGGGATAAGAAAACTTTACTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660878 63660879 63660879 upstr_intron -23 -0.3548387 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTATCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 16 1570 1 0.9999758 0.9999879 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 0.00869113 0.9626145 0.9611698 NA 0.03881813 NA FALSE NA 0 -0.778 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA ACA C,T 1.648e-05 18:63660879 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant 0.077447 0.16771 0.04767 0.053691 0.7669217 0.0976745 5.093148e-07 FALSE 8.16093e-06 ENSE00001744245_031 ENSE00001744245 031 18 61327983 61328152 - 51 57 62 A G 61328125 851 28 CTATGACCTGTTCGGGGATCTAAAGCTGAACCATAGTGCTCTGTGACTCACATGATATGTTGCAGCTTTTCCTGTGGTGTTCTCTGTGACTTGATCAAAGTGAAGAACCTGGAAGAGACATGAAGCGGGACAAGAAAACTTTGCTCAAAAGATCTGTTTAAGTCAGTGGT 63660748 63660918 63660890 63660891 63660891 upstr_intron -35 -0.5483871 ACCACTGACTTAAACAGATCTTTTGAGCAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 64 2092 1 0.9984571 0.9992286 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 0.007172488 0.9626145 0.9611698 NA 0.03805881 NA FALSE NA 0 -0.256 . intron_variant&non_coding_transcript_variant MODIFIER SERPINB11 HGNC 14221 ENST00000489748 2/6 1 NA TAC A,G 8.243e-06 18:63660891 SERPINB11 HGNC Symbol protein_coding 78853 ENSG00000206072 ENSE00001744245 intron_variant 0.028176 0.17829 0.05386 0.053691 0.5619764 0.060399 5.093148e-07 FALSE 4.08584e-06 ENSE00001747304_001 ENSE00001747304 001 18 21946814 21946983 - 42 75 53 T C 21946825 337 159 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAGGTGAGGTATTT 24366849 24367019 24366860 24366861 24366861 downstr_intron 31 1.756098 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAGGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 260 274 0.8478889 0.85 0.8489445 896 1862 0.8084595 0.8032595 0.8058595 0.7867578 0.8408531 0.8599607 0.8968376 0.06113117 0.00914686 -0.0515012 -0.09357815 0.8138055 0.8783991 0.03513902 -0.07253967 0.1076787 FALSE FALSE 0.098 1.797 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/4 1 NA CTT T,C 8.237e-06 18:24366861 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 non_coding_transcript_exon_variant 0.260235 0.20205 0.07845 0.156188 0.6292368 0.158006 4.106793e-05 FALSE 4.21589e-06 ENSE00001747304_002 ENSE00001747304 002 18 21946814 21946983 - 42 75 53 T C 21946834 338 150 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAGTGTTTGTAAGTGAGGTATTT 24366849 24367019 24366869 24366870 24366870 downstr_intron 22 1.536585 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAGTGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 11 32 0.85 0.85 0.85 1027 1012 0.7869389 0.7963396 0.7916393 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 -0.07302174 -0.100498 0.8138055 0.8783991 0.03619455 -0.08675985 0.1229544 FALSE FALSE 0 -0.518 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/4 1 NA ATT T,C 8.237e-06 18:24366870 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 non_coding_transcript_exon_variant 0.066624 0.11333 0.00581 0.156188 0.5521903 0.158006 4.106793e-05 FALSE 4.15586e-06 ENSE00001747304_003 ENSE00001747304 003 18 21946814 21946983 - 42 75 53 A G 21946840 339 144 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTACGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366875 24366876 24366876 downstr_intron 16 1.390244 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTACGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 22 76 0.8246764 0.85 0.8373382 199 1149 0.8240251 0.9689372 0.8964811 0.7867578 0.8408531 0.8599607 0.8968376 0.03791865 0.00914686 -0.03593555 0.07209958 0.8138055 0.8783991 0.02353276 0.01808201 0.005450742 FALSE FALSE 0 -0.133 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/4 1 NA CAT A,G 8.237e-06 18:24366876 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 non_coding_transcript_exon_variant 0.147553 0.19137 0.04822 0.156188 0.5887704 0.158006 4.106793e-05 FALSE NA ENSE00001747304_004 ENSE00001747304 004 18 21946814 21946983 - 42 75 53 T C 21946841 340 143 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTGTGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366876 24366877 24366877 downstr_intron 15 1.365854 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTGTGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 106 226 0.8448116 0.85 0.8474058 NA NA NA NA NA 0.7867578 0.8408531 0.8599607 0.8968376 0.05805386 0.00914686 NA NA 0.8138055 0.8783991 0.03360036 NA NA NA FALSE 0 -5.87 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/4 rs368641983 1 C:0.0004 C:0.0015 C:0 NA C:0 C:0 C:0 C:0.0002 C:0 ATA T,C 4.118e-05 18:24366877 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 non_coding_transcript_exon_variant -0.266451 0.08547 0.00366 0.156188 0.3867723 0.158006 4.106793e-05 FALSE 3.72439e-05 ENSE00001747304_005 ENSE00001747304 005 18 21946814 21946983 - 42 75 53 G A 21946843 341 141 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTTTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366878 24366879 24366879 downstr_intron 13 1.317073 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTTTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 21 79 0.85 0.85 0.85 845 815 0.8675089 0.9766648 0.9220868 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 0.007548196 0.07982719 0.8138055 0.8783991 0.03619455 0.04368769 0.007493144 FALSE FALSE 0 0.149 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/4 1 NA AGA G,A 8.236e-06 18:24366879 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 non_coding_transcript_exon_variant 0.082091 0.18007 0.03273 0.156188 0.8092338 0.158006 4.106793e-05 FALSE 8.27246e-06 ENSE00001747304_006 ENSE00001747304 006 18 21946814 21946983 - 42 75 53 C G 21946853 342 131 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTCAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366888 24366889 24366889 downstr_intron 3 1.073171 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTCAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 127 125 0 0 0 3242 2119 0.002603259 0.0004746005 0.00153893 0.7867578 0.8408531 0.8599607 0.8968376 -0.7867578 -0.8408531 -0.8573574 -0.896363 0.8138055 0.8783991 -0.8138055 -0.8768602 0.06305475 TRUE TRUE 1 1.758 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW OSBPL1A HGNC 16398 ENST00000582350 4/4 1 NA TCA C,G 1.647e-05 18:24366889 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 splice_region_variant 1.916045 0.96979 0.91308 0.156188 0.9148029 0.533111 4.106793e-05 FALSE 8.23852e-06 ENSE00001747304_008 ENSE00001747304 008 18 21946814 21946983 - 42 75 53 G A 21946861 344 123 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGATGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366896 24366897 24366897 exon -6 0.9333333 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGATGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 19 26 0.85 0.85 0.85 NA NA NA NA NA 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 NA NA 0.8138055 0.8783991 0.03619455 NA NA NA FALSE 1 5.647 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 rs371330251 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 A:0.0002 A:0 CGT G,A 8.236e-05 18:24366897 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 stop_gained 11.52195 0.97351 0.96879 0.706548 0.9985371 0 4.106793e-05 FALSE 5.74076e-05 ENSE00001747304_009 ENSE00001747304 009 18 21946814 21946983 - 42 75 53 C T 21946864 345 120 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAAGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366899 24366900 24366900 exon -9 0.8933333 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAAGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 107 473 0.85 0.85 0.85 333 800 0.9417944 0.9435517 0.942673 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 0.08183369 0.04671411 0.8138055 0.8783991 0.03619455 0.0642739 0.02807935 FALSE FALSE 1 6.213 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA CCT C,T 8.236e-06 18:24366900 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 missense_variant 7.195549 0.98882 0.98811 0.706548 0.9992692 0 4.106793e-05 FALSE 4.09242e-06 ENSE00001747304_010 ENSE00001747304 010 18 21946814 21946983 - 42 75 53 G A 21946871 346 113 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCTTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366906 24366907 24366907 exon -16 0.8 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCTTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 15 39 0.6885423 0.85 0.7692711 NA NA NA NA NA 0.7867578 0.8408531 0.8599607 0.8968376 -0.09821547 0.00914686 NA NA 0.8138055 0.8783991 -0.04453431 NA NA NA FALSE 0.996 0.262 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA AGG G,A 8.236e-06 18:24366907 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 synonymous_variant 1.710048 0.96102 0.79422 0.706548 0.8735846 0 4.106793e-05 FALSE 8.17855e-06 ENSE00001747304_011 ENSE00001747304 011 18 21946814 21946983 - 42 75 53 A G 21946874 347 110 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCCGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366909 24366910 24366910 exon -19 0.76 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCCGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 68 85 0.7188127 0.85 0.7844063 1804 960 0.9455524 0.9240552 0.9348038 0.7867578 0.8408531 0.8599607 0.8968376 -0.06794511 0.00914686 0.0855917 0.02721757 0.8138055 0.8783991 -0.02939913 0.05640464 0.08580376 FALSE FALSE 0.99 0.182 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 rs371874443 1 NA G:0 G:0.0001 CAG A,G 1.647e-05 18:24366910 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 synonymous_variant 1.076104 0.95387 0.78368 0.706548 0.6839352 0 4.106793e-05 FALSE 8.17762e-06 ENSE00001747304_014 ENSE00001747304 014 18 21946814 21946983 - 42 75 53 G A 21946885 350 99 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGTTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366920 24366921 24366921 exon -30 0.6133333 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGTTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 38 34 0.85 0.85 0.85 4184 4008 0.8121991 0.8288859 0.8205425 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 -0.04776156 -0.06795172 0.8138055 0.8783991 0.03619455 -0.05785664 0.09405119 FALSE FALSE 1 6.072 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA AGC G,A 1.647e-05 18:24366921 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 missense_variant 5.940316 0.97937 0.96929 0.706548 0.9989556 0 4.106793e-05 FALSE 1.22753e-05 ENSE00001747304_016 ENSE00001747304 016 18 21946814 21946983 - 42 75 53 C T 21946889 352 95 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACACCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366924 24366925 24366925 exon -34 0.56 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACACCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant NA NA NA NA NA 24 1568 0.8780223 0.9153616 0.896692 0.7867578 0.8408531 0.8599607 0.8968376 NA NA 0.01806164 0.01852401 0.8138055 0.8783991 NA 0.01829282 NA FALSE NA 0.003 -2.609 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA GCG C,T 8.236e-06 18:24366925 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 synonymous_variant 1.821877 0.12821 0.01454 0.706548 0.8835264 0 4.106793e-05 FALSE NA ENSE00001747304_019 ENSE00001747304 019 18 21946814 21946983 - 42 75 53 T G 21946900 355 84 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACCTGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366935 24366936 24366936 exon 31 0.4133333 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACCTGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant NA NA NA NA NA 649 640 0.9936477 1 0.9968239 0.7867578 0.8408531 0.8599607 0.8968376 NA NA 0.1336871 0.1031624 0.8138055 0.8783991 NA 0.1184247 NA FALSE NA 1 2.171 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 rs372695761 1 NA ATG T,G 1.647e-05 18:24366936 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 missense_variant 2.120537 0.98558 0.93157 0.706548 0.946489 0 4.106793e-05 FALSE 4.07953e-06 ENSE00001747304_020 ENSE00001747304 020 18 21946814 21946983 - 42 75 53 A C 21946908 356 76 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTGGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366943 24366944 24366944 exon 23 0.3066667 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTGGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant NA NA NA NA NA 2795 1832 0.9678405 0.9975724 0.9827064 0.7867578 0.8408531 0.8599607 0.8968376 NA NA 0.1078798 0.1007348 0.8138055 0.8783991 NA 0.1043073 NA FALSE NA 1 4.088 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA CAA A,C 1.647e-05 18:24366944 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 missense_variant 5.263411 0.91525 0.86725 0.706548 0.9604124 0 4.106793e-05 FALSE 1.22402e-05 ENSE00001747304_021 ENSE00001747304 021 18 21946814 21946983 - 42 75 53 C T 21946910 357 74 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTATTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366945 24366946 24366946 exon 21 0.28 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTATTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 67 22 0.85 0.85 0.85 397 354 0.9346474 0.8353976 0.8850225 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 0.07468675 -0.06143997 0.8138055 0.8783991 0.03619455 0.006623389 0.02957116 FALSE FALSE 1 0.77 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA ACA C,T 1.647e-05 18:24366946 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 missense_variant 2.160196 0.90006 0.43944 0.706548 0.9070001 0 4.106793e-05 FALSE 4.07953e-06 ENSE00001747304_022 ENSE00001747304 022 18 21946814 21946983 - 42 75 53 T C 21946919 358 65 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAGGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366954 24366955 24366955 exon 12 0.16 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAGGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 17 37 0.85 0.85 0.85 NA NA NA NA NA 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 NA NA 0.8138055 0.8783991 0.03619455 NA NA NA FALSE 1 1.765 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA CTT T,C 8.236e-05 18:24366955 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 missense_variant 0.65189 0.97267 0.8436 0.706548 0.9519081 0 4.106793e-05 FALSE 0.000102413 ENSE00001747304_023 ENSE00001747304 023 18 21946814 21946983 - 42 75 53 G A 21946923 359 61 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGTAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366958 24366959 24366959 exon 8 0.1066667 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGTAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 125 94 0 0 0 2581 655 0.1353476 0.02010552 0.07772654 0.7867578 0.8408531 0.8599607 0.8968376 -0.7867578 -0.8408531 -0.7246131 -0.8767321 0.8138055 0.8783991 -0.8138055 -0.8006726 0.01313286 TRUE TRUE 1 7.812 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA TGC G,A 8.236e-06 18:24366959 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 missense_variant 5.692959 0.9881 0.98423 0.706548 0.9991509 0 4.106793e-05 FALSE NA ENSE00001747304_024 ENSE00001747304 024 18 21946814 21946983 - 42 75 53 C T 21946927 360 57 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTAGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366962 24366963 24366963 exon 4 0.05333333 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTAGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 79 93 0 0 0 3477 1076 0.003736421 0.0004698883 0.002103155 0.7867578 0.8408531 0.8599607 0.8968376 -0.7867578 -0.8408531 -0.8562242 -0.8963677 0.8138055 0.8783991 -0.8138055 -0.876296 0.06249053 TRUE TRUE 1 6.213 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 4/5 1 NA CCA C,T 8.236e-06 18:24366963 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 stop_gained 6.889223 0.98783 0.97799 0.706548 0.9963439 0 4.106793e-05 FALSE NA ENSE00001747304_025 ENSE00001747304 025 18 21946814 21946983 - 42 75 53 A C 21946940 361 44 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCAGGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366975 24366976 24366976 upstr_intron -10 -0.1698113 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCAGGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 31 193 0 0.01694773 0.008473863 644 1238 0 0.0005539509 0.0002769755 0.7867578 0.8408531 0.8599607 0.8968376 -0.7867578 -0.8239054 -0.8599607 -0.8962837 0.8138055 0.8783991 -0.8053316 -0.8781222 0.07279057 TRUE TRUE 0.005 1.252 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 3/4 1 NA CAT A,C 8.236e-06 18:24366976 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 intron_variant 1.253858 0.33972 0.27189 0.156188 0.7679024 0.235564 4.106793e-05 FALSE 4.21656e-06 ENSE00001747304_028 ENSE00001747304 028 18 21946814 21946983 - 42 75 53 A G 21946946 364 38 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGCGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366981 24366982 24366982 upstr_intron -16 -0.2830189 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGCGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 41 93 0.85 0.85 0.85 1097 791 0.7757232 0.8111665 0.7934449 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 -0.08423745 -0.08567108 0.8138055 0.8783991 0.03619455 -0.08495426 0.1211488 FALSE FALSE 0.96 2.743 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 3/4 1 NA CAC A,G 8.236e-06 18:24366982 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 intron_variant 0.906973 0.5687 0.62719 0.156188 0.8134238 0.155319 4.106793e-05 FALSE NA ENSE00001747304_029 ENSE00001747304 029 18 21946814 21946983 - 42 75 53 T C 21946954 365 30 ATGATTTTCACCATTGTATATTTCTTGGTGTTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366989 24366990 24366990 upstr_intron -24 -0.4339623 ATGATTTTCACCATTGTATATTTCTTGGTGTTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 71 73 0.85 0.85 0.85 136 2048 0.8176279 0.7567833 0.7872056 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 -0.04233274 -0.1400543 0.8138055 0.8783991 0.03619455 -0.09119354 0.1273881 FALSE FALSE 0 -0.041 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 3/4 1 NA ATA T,C 1.647e-05 18:24366990 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 intron_variant 0.045247 0.16279 0.02448 0.099367 0.6079873 0.0968874 4.106793e-05 FALSE 2.22122e-05 ENSE00001747304_030 ENSE00001747304 030 18 21946814 21946983 - 42 75 53 A C 21946959 366 25 ATGATTTTCACCATTGTATATTTCGTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366994 24366995 24366995 upstr_intron -29 -0.5283019 ATGATTTTCACCATTGTATATTTCGTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 115 68 0.5681663 0.5230038 0.5455851 133 50 0.8234806 0.8469887 0.8352347 0.7867578 0.8408531 0.8599607 0.8968376 -0.2185915 -0.3178493 -0.03648003 -0.04984892 0.8138055 0.8783991 -0.2682204 -0.04316448 0.2250559 FALSE FALSE 0.109 0.24 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 3/4 1 NA AAG A,C 8.237e-06 18:24366995 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 intron_variant -0.092231 0.33721 0.11603 0.099367 0.6874678 0.111495 4.106793e-05 FALSE 1.35831e-05 ENSE00001747304_031 ENSE00001747304 031 18 21946814 21946983 - 42 75 53 T C 21946966 367 18 ATGATTTTCACCATTGTGTATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24367001 24367002 24367002 upstr_intron -36 -0.6603774 ATGATTTTCACCATTGTGTATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 31 40 0.85 0.85 0.85 NA NA NA NA NA 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 NA NA 0.8138055 0.8783991 0.03619455 NA NA NA FALSE 0 -2.442 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 3/4 1 NA ATA T,C 5.766e-05 18:24367002 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 intron_variant -0.314679 0.08602 0.00272 0.099367 0.6090256 0.0666035 4.106793e-05 FALSE 8.38324e-05 ENSE00001747304_032 ENSE00001747304 032 18 21946814 21946983 - 42 75 53 A G 21946969 368 15 ATGATTTTCACCATCGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24367004 24367005 24367005 upstr_intron -39 -0.7169811 ATGATTTTCACCATCGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 42 151 0.85 0.85 0.85 627 2698 0.8327065 0.8193877 0.8260471 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 -0.02725415 -0.07744995 0.8138055 0.8783991 0.03619455 -0.05235205 0.08854659 FALSE FALSE 0.096 4.143 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 3/4 1 NA CAA A,G 8.237e-06 18:24367005 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 intron_variant 0.201972 0.40006 0.77323 0.099367 0.8312346 0.547688 4.106793e-05 FALSE 4.78964e-06 ENSE00001747304_033 ENSE00001747304 033 18 21946814 21946983 - 42 75 53 G A 21946973 369 11 ATGATTTTCATCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24367008 24367009 24367009 upstr_intron -43 -0.7924528 ATGATTTTCATCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 79 89 0.85 0.85 0.85 411 1740 0.781485 0.9606137 0.8710494 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.00914686 -0.07847565 0.06377612 0.8138055 0.8783991 0.03619455 -0.007349763 0.04354431 FALSE FALSE 0 -0.539 . intron_variant&non_coding_transcript_variant MODIFIER OSBPL1A HGNC 16398 ENST00000582350 3/4 1 NA GGT G,A 8.237e-06 18:24367009 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 intron_variant 0.037968 0.16605 0.02123 0.099367 0.6370134 0.0666035 4.106793e-05 FALSE 1.46336e-05 ENSE00001750934_006 ENSE00001750934 006 15 42684789 42684958 + 48 84 38 C T 42684807 682 19 ACTTCTGTTCCCCCGCCCTTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 42392608 42392609 42392609 upstr_intron -30 -0.6041667 ACTTCTGTTCCCCCGCCCTTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC mutant 86 42 0.8436 0.85 0.8468 NA NA NA NA NA 0.9921504 0.9714646 0.9908334 0.9964202 -0.1485504 -0.1214646 NA NA 0.9818075 0.9936268 -0.1350075 NA NA NA FALSE 0.712 1.24 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397163 6/23 1 NA CCT C,T 8.236e-06 15:42392609 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003688077 intron_variant 0.289405 0.47123 0.8448 0.074636 0.902548 0.109226 9.73741e-09 FALSE 8.19377e-06 ENSE00001750934_008 ENSE00001750934 008 15 42684789 42684958 + 48 84 38 A G 42684840 684 52 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAGTCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 42392641 42392642 42392642 exon 4 0.04761905 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAGTCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC mutant NA NA NA NA NA 130 773 1 0.9963746 0.9981873 0.9921504 0.9714646 0.9908334 0.9964202 NA NA 0.00916655 -4.55463e-05 0.9818075 0.9936268 NA 0.004560502 NA FALSE NA 0.948 2.005 . missense_variant MODERATE CAPN3 HGNC 1480 ENST00000397163 7/24 1 tolerated(0.09) benign(0.014) NA AAT A,G 2.471e-05 15:42392642 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003688077 missense_variant 0.744258 0.9549 0.97095 0.553676 0.8998999 0 9.73741e-09 FALSE 2.43924e-05 ENSE00001750934_011 ENSE00001750934 011 15 42684789 42684958 + 48 84 38 C T 42684847 687 59 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCTGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 42392648 42392649 42392649 exon 11 0.1309524 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCTGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC mutant NA NA NA NA NA 12 13 0.95 0.9549341 0.952467 0.9921504 0.9714646 0.9908334 0.9964202 NA NA -0.04083345 -0.04148607 0.9818075 0.9936268 NA -0.04115976 NA FALSE NA 1 4.544 rs121434547 missense_variant MODERATE CAPN3 HGNC 1480 ENST00000397163 7/24 rs121434547&CAPN3:c.956C>T&CM970213 1 deleterious(0.01) benign(0.231) NA CCG C,T 4.118e-05 15:42392649 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003688077 missense_variant 2.970129 0.97823 0.98997 0.553676 0.9981708 0 9.73741e-09 FALSE 2.43934e-05 ENSE00001750934_014 ENSE00001750934 014 15 42684789 42684958 + 48 84 38 A G 42684859 690 71 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGGGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 42392660 42392661 42392661 exon 23 0.2738095 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGGGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC mutant NA NA NA NA NA 35 2254 1 0.9943423 0.9971712 0.9921504 0.9714646 0.9908334 0.9964202 NA NA 0.00916655 -0.002077834 0.9818075 0.9936268 NA 0.003544358 NA FALSE NA 1 6.991 . missense_variant MODERATE CAPN3 HGNC 1480 ENST00000397163 7/24 1 deleterious(0) probably_damaging(0.964) NA GAG A,G 1.647e-05 15:42392661 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003688077 missense_variant 6.699499 0.98655 0.99357 0.553676 0.9992824 0 9.73741e-09 FALSE 1.21929e-05 ENSE00001750934_019 ENSE00001750934 019 15 42684789 42684958 + 48 84 38 C T 42684875 695 87 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGTGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 42392676 42392677 42392677 exon 39 0.4642857 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGTGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC mutant NA NA NA NA NA 27 41 1 1 1 0.9921504 0.9714646 0.9908334 0.9964202 NA NA 0.00916655 0.003579848 0.9818075 0.9936268 NA 0.006373199 NA FALSE NA 0 -3.599 rs28364441 synonymous_variant LOW CAPN3 HGNC 1480 ENST00000397163 7/24 rs28364441&CAPN3:c.984C>A&CAPN3:c.984C>T&CM074080 1 T:0.0016 T:0.0008&T:0.0008 T:0.0072&T:0.0072 NA T:0&T:0 T:0.002&T:0.002 T:0&T:0 T:0.0027&T:0.0027 T:0.008&T:0.008 GCG C,T 0.006276 15:42392677 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003688077 synonymous_variant 1.853459 0.34293 0.31847 0.553676 0.8706202 0 9.73741e-09 FALSE 0.00581712 ENSE00001750934_028 ENSE00001750934 028 15 42684789 42684958 + 48 84 38 G A 42684908 704 120 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACAGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 42392709 42392710 42392710 exon -13 0.8571429 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACAGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC mutant NA NA NA NA NA 13 284 1 0.9872652 0.9936326 0.9921504 0.9714646 0.9908334 0.9964202 NA NA 0.00916655 -0.009154919 0.9818075 0.9936268 NA 5.815807e-06 NA FALSE NA 0 -2.21 rs141934227 synonymous_variant LOW CAPN3 HGNC 1480 ENST00000397163 7/24 rs141934227 1 A:0.0026 A:0 A:0 NA A:0 A:0 A:0.0133 A:0 A:0.0001 CGG G,A 0.0006919 15:42392710 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003688077 synonymous_variant 1.408268 0.68279 0.42888 0.638212 0.7950046 0 9.73741e-09 FALSE 0.000638725 ENSE00001750934_030 ENSE00001750934 030 15 42684789 42684958 + 48 84 38 A G 42684923 706 135 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTGAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 42392724 42392725 42392725 downstr_intron 3 1.081081 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTGAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC mutant 22 19 0.7144882 0.85 0.7822441 NA NA NA NA NA 0.9921504 0.9714646 0.9908334 0.9964202 -0.2776622 -0.1214646 NA NA 0.9818075 0.9936268 -0.1995634 NA NA NA FALSE 0.826 0.678 rs28364442 splice_region_variant&intron_variant LOW CAPN3 HGNC 1480 ENST00000397163 7/23 rs28364442&CAPN3:c.1029+3A>G&CS062042 1 G:0.0391 G:0.1437&G:0.1437 G:0.0072&G:0.0072 NA G:0&G:0 G:0.001&G:0.001 G:0&G:0 G:0.1015&G:0.1015 G:0&G:0 TAA G,G 0.009645 15:42392725 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003688077 splice_region_variant 1.808509 0.94202 0.79685 0.074636 0.8612403 0.484824 9.73741e-09 FALSE 0.00740587 ENSE00001750934_033 ENSE00001750934 033 15 42684789 42684958 + 48 84 38 G T 42684935 709 147 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGTCTTGGTGGGGCAAGGGCACCCTC 42392590 42392760 42392736 42392737 42392737 downstr_intron 15 1.405405 ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGTCTTGGTGGGGCAAGGGCACCCTC ACTTCTGTTCCCCCGCCCCTAATGGGTTCTCTGGTTACTGCTCTACAGACAATCATTCCGGTTCAGTATGAGACAAGAATGGCCTGCGGGCTGGTCAGAGGTCACGCCTACTCTGTCACGGGGCTGGATGAGGTAAGCCTGGTGGGGCTTGGTGGGGCAAGGGCACCCTC mutant NA NA NA NA NA 49 23 1 1 1 0.9921504 0.9714646 0.9908334 0.9964202 NA NA 0.00916655 0.003579848 0.9818075 0.9936268 NA 0.006373199 NA FALSE NA 0 0.101 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397163 7/23 1 NA GGC G,T 8.237e-06 15:42392737 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003688077 intron_variant 0.790154 0.42401 0.67292 0.074636 0.9471109 0.109446 9.73741e-09 FALSE NA ENSE00001751163_001 ENSE00001751163 001 14 64565412 64565581 + 53 75 42 G A 64565437 517 26 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGTAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098718 64098719 64098719 upstr_intron -28 -0.509434 GGTGATGTTGACTGGCAAGCAGACTACAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 18 19 0.85 0.85 0.85 1201 1481 0.8767404 0.9252481 0.9009943 0.8472126 0.817894 0.8038316 0.633998 0.002787386 0.032106 0.0729088 0.2912501 0.8325533 0.7189148 0.01744669 0.1820795 0.1646328 FALSE FALSE 0.006 1.21 . intron_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 10/10 1 NA TGC G,A 8.237e-06 14:64098719 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 intron_variant 0.324846 0.23888 0.07637 0.163922 0.44939 0.0897696 1.853352e-11 FALSE NA ENSE00001751163_003 ENSE00001751163 003 14 64565412 64565581 + 53 75 42 T A 64565442 519 31 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATTCCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098723 64098724 64098724 upstr_intron -23 -0.4150943 GGTGATGTTGACTGGCAAGCAGACTGCAGGAATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 286 445 0.8480811 0.85 0.8490405 2392 807 0.749616 0.797524 0.77357 0.8472126 0.817894 0.8038316 0.633998 0.0008684819 0.032106 -0.0542156 0.163526 0.8325533 0.7189148 0.01648724 0.05465519 0.03816795 FALSE FALSE 0 -0.161 . intron_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 10/10 1 NA GTA T,A 1.647e-05 14:64098724 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 intron_variant 0.506312 0.18571 0.0507 0.163922 0.7985844 0.0897696 1.853352e-11 FALSE 8.15973e-06 ENSE00001751163_004 ENSE00001751163 004 14 64565412 64565581 + 53 75 42 T C 64565444 520 33 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAGTACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098725 64098726 64098726 upstr_intron -21 -0.3773585 GGTGATGTTGACTGGCAAGCAGACTGCAGGTACTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 407 187 0.005212187 0 0.002606094 0.8472126 0.817894 0.8038316 0.633998 NA NA -0.7986194 -0.633998 0.8325533 0.7189148 NA -0.7163087 NA TRUE NA 0 0.015 . intron_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 10/10 1 NA ATT T,C 8.236e-06 14:64098726 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 non_coding_transcript_exon_variant 0.085489 0.16735 0.0307 0.163922 0.717801 0.0897696 1.853352e-11 FALSE 4.07651e-06 ENSE00001751163_005 ENSE00001751163 005 14 64565412 64565581 + 53 75 42 G C 64565449 521 38 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTCTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098730 64098731 64098731 upstr_intron -16 -0.2830189 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTCTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 86 18 0 0 0 151 77 0.1867068 0 0.09335338 0.8472126 0.817894 0.8038316 0.633998 -0.8472126 -0.817894 -0.6171248 -0.633998 0.8325533 0.7189148 -0.8325533 -0.6255614 0.2069919 TRUE TRUE 0.272 1.59 . intron_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 10/10 1 NA TGT G,C 8.236e-06 14:64098731 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 non_coding_transcript_exon_variant 0.654052 0.46271 0.21588 0.163922 0.7547599 0.222015 1.853352e-11 FALSE 4.07355e-06 ENSE00001751163_006 ENSE00001751163 006 14 64565412 64565581 + 53 75 42 C T 64565452 522 41 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGTTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098733 64098734 64098734 upstr_intron -13 -0.2264151 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGTTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 66 575 0.9905794 0.9570141 0.9737968 0.8472126 0.817894 0.8038316 0.633998 NA NA 0.1867478 0.3230162 0.8325533 0.7189148 NA 0.254882 NA FALSE NA 0.801 1.312 . intron_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 10/10 1 NA GCT C,T 2.471e-05 14:64098734 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 non_coding_transcript_exon_variant 2.02049 0.95621 0.47868 0.163922 0.7376777 0.197235 1.853352e-11 FALSE 2.03618e-05 ENSE00001751163_009 ENSE00001751163 009 14 64565412 64565581 + 53 75 42 G A 64565456 525 45 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGTACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098737 64098738 64098738 upstr_intron -9 -0.1509434 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTACCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 15 86 0.85 0.85 0.85 NA NA NA NA NA 0.8472126 0.817894 0.8038316 0.633998 0.002787386 0.032106 NA NA 0.8325533 0.7189148 0.01744669 NA NA NA FALSE 0.027 0.115 . intron_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 10/10 rs376765095 1 NA A:0 A:0.0001 TGC G,A 8.236e-06 14:64098738 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 non_coding_transcript_exon_variant 2.248025 0.96304 0.11667 0.163922 0.7595002 0.197235 1.853352e-11 FALSE 1.22084e-05 ENSE00001751163_013 ENSE00001751163 013 14 64565412 64565581 + 53 75 42 C T 64565479 529 68 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGTTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098760 64098761 64098761 exon 15 0.2 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGTTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 32 53 0.9060723 0.85 0.8780361 645 40 0.8315057 0.7068993 0.7692025 0.8472126 0.817894 0.8038316 0.633998 0.05885968 0.032106 0.02767413 0.07290127 0.8325533 0.7189148 0.04548284 0.0502877 0.004804864 FALSE FALSE 0.795 0.758 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 rs556026578 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GCT C,T 2.471e-05 14:64098761 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 synonymous_variant 0.917984 0.707 0.24719 0.732398 0.6627159 0 1.853352e-11 FALSE 2.03216e-05 ENSE00001751163_016 ENSE00001751163 016 14 64565412 64565581 + 53 75 42 T C 64565484 532 73 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACGTGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098765 64098766 64098766 exon 20 0.2666667 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCACGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 611 227 0.8062189 0.9203475 0.8632832 0.8472126 0.817894 0.8038316 0.633998 NA NA 0.002387272 0.2863496 0.8325533 0.7189148 NA 0.1443684 NA FALSE NA 1 4.024 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 1 NA ATG T,C 8.236e-06 14:64098766 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant 1.035303 0.97928 0.8647 0.732398 0.9726868 0 1.853352e-11 FALSE 4.06352e-06 ENSE00001751163_017 ENSE00001751163 017 14 64565412 64565581 + 53 75 42 C T 64565503 533 92 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTTGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098784 64098785 64098785 exon -37 0.52 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTTGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 82 12 0 0 0 NA NA NA NA NA 0.8472126 0.817894 0.8038316 0.633998 -0.8472126 -0.817894 NA NA 0.8325533 0.7189148 -0.8325533 NA NA NA TRUE 0 -1.499 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 1 NA TCG C,T 1.647e-05 14:64098785 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 synonymous_variant 1.703934 0.15373 0.0149 0.732398 0.7222544 0 1.853352e-11 FALSE 2.84435e-05 ENSE00001751163_018 ENSE00001751163 018 14 64565412 64565581 + 53 75 42 G A 64565504 534 93 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTTGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098785 64098786 64098786 exon -36 0.5333333 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCAAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 900 113 0.0463143 0.003251505 0.0247829 0.8472126 0.817894 0.8038316 0.633998 NA NA -0.7575173 -0.6307465 0.8325533 0.7189148 NA -0.6941319 NA TRUE NA 0 -0.26 rs140028745 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 rs140028745 1 A:0.0014 A:0.0053 A:0 NA A:0 A:0 A:0 A:0.0064 A:0 CGA G,A 0.0004612 14:64098786 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant 0.264363 0.15396 0.01038 0.732398 0.8812077 0 1.853352e-11 FALSE 0.000264077 ENSE00001751163_019 ENSE00001751163 019 14 64565412 64565581 + 53 75 42 A G 64565508 535 97 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGGAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098789 64098790 64098790 exon -32 0.5866667 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGGAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 35 64 0 0 0 1293 304 0.0002319703 0.05067572 0.02545384 0.8472126 0.817894 0.8038316 0.633998 -0.8472126 -0.817894 -0.8035996 -0.5833223 0.8325533 0.7189148 -0.8325533 -0.6934609 0.1390924 TRUE TRUE 1 4.695 rs145344879 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 rs145344879 1 NA G:0.0002 G:0 GAA A,G 1.647e-05 14:64098790 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant 5.843914 0.98005 0.9106 0.732398 0.9973445 0 1.853352e-11 FALSE 1.62497e-05 ENSE00001751163_021 ENSE00001751163 021 14 64565412 64565581 + 53 75 42 G T 64565513 537 102 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGTTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098794 64098795 64098795 exon -27 0.6533333 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGTTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 15 15 0.85 0.85 0.85 NA NA NA NA NA 0.8472126 0.817894 0.8038316 0.633998 0.002787386 0.032106 NA NA 0.8325533 0.7189148 0.01744669 NA NA NA FALSE 0.608 0.699 rs147675965 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 rs147675965 1 NA T:0 T:0.0001 GGT G,T 8.236e-06 14:64098795 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant 1.30806 0.83327 0.36701 0.732398 0.7662253 0 1.853352e-11 FALSE 8.12559e-06 ENSE00001751163_022 ENSE00001751163 022 14 64565412 64565581 + 53 75 42 A G 64565522 538 111 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAGGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098803 64098804 64098804 exon -18 0.7733333 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAGGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 143 192 0.85 0.85 0.85 64 57 0.835086 0.8044167 0.8197514 0.8472126 0.817894 0.8038316 0.633998 0.002787386 0.032106 0.03125441 0.1704187 0.8325533 0.7189148 0.01744669 0.1008366 0.08338988 FALSE FALSE 0.958 0.303 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 1 NA AAG A,G 8.236e-06 14:64098804 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant -0.766246 0.83981 0.31646 0.732398 0.4513247 0 1.853352e-11 FALSE 4.06276e-06 ENSE00001751163_023 ENSE00001751163 023 14 64565412 64565581 + 53 75 42 C G 64565526 539 115 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTGCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098807 64098808 64098808 exon -14 0.8266667 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTGCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 134 509 0.09041013 0.02088732 0.05564872 0.8472126 0.817894 0.8038316 0.633998 NA NA -0.7134215 -0.6131107 0.8325533 0.7189148 NA -0.6632661 NA TRUE NA 0.938 2.473 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 1 NA TCC C,G 8.236e-06 14:64098808 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant 3.400624 0.95476 0.82422 0.732398 0.8643659 0 1.853352e-11 FALSE 1.2191e-05 ENSE00001751163_024 ENSE00001751163 024 14 64565412 64565581 + 53 75 42 C T 64565527 540 116 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCTGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098808 64098809 64098809 exon -13 0.84 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCTGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 1039 899 0.00173751 0.03668913 0.01921332 0.8472126 0.817894 0.8038316 0.633998 NA NA -0.8020941 -0.5973089 0.8325533 0.7189148 NA -0.6997015 NA TRUE NA 0.002 -0.996 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 rs377762189&COSM956950 1 NA T:0 T:0.0001 CCG C,T 2.471e-05 14:64098809 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 synonymous_variant 1.291563 0.30897 0.01931 0.732398 0.6410225 0 1.853352e-11 FALSE 3.2514e-05 ENSE00001751163_027 ENSE00001751163 027 14 64565412 64565581 + 53 75 42 G C 64565535 543 124 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGACCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098816 64098817 64098817 exon -5 0.9466667 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGACCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 89 97 0.85 0.85 0.85 NA NA NA NA NA 0.8472126 0.817894 0.8038316 0.633998 0.002787386 0.032106 NA NA 0.8325533 0.7189148 0.01744669 NA NA NA FALSE 1 3.436 rs113360430 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 rs113360430 1 C:0.0002 C:0 C:0.0014 NA C:0 C:0 C:0 C:0.0005 C:0 AGC G,C 4.118e-05 14:64098817 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant 2.745348 0.98343 0.90147 0.732398 0.9412424 0 1.853352e-11 FALSE 5.69092e-05 ENSE00001751163_028 ENSE00001751163 028 14 64565412 64565581 + 53 75 42 C T 64565536 544 125 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGTGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098817 64098818 64098818 exon -4 0.96 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGTGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 46 182 0.8 0.7918707 0.7959354 0.8472126 0.817894 0.8038316 0.633998 NA NA -0.003831605 0.1578728 0.8325533 0.7189148 NA 0.07702057 NA FALSE NA 0.816 -0.802 rs36007735 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 rs36007735&COSM1240354 1 T:0.0024 T:0 T:0.0014 NA T:0.001 T:0.0089 T:0.001 T:0.0018 T:0.0079 GCG C,T 0.00542 14:64098818 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 synonymous_variant 1.456709 0.91614 0.02798 0.732398 0.6796192 0 1.853352e-11 FALSE 0.00542033 ENSE00001751163_029 ENSE00001751163 029 14 64565412 64565581 + 53 75 42 G A 64565537 545 126 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATTGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098818 64098819 64098819 exon -3 0.9733333 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCAATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 23 62 0.85 0.85 0.85 594 568 0.8649633 0.8642754 0.8646194 0.8472126 0.817894 0.8038316 0.633998 0.002787386 0.032106 0.06113169 0.2302774 0.8325533 0.7189148 0.01744669 0.1457046 0.1282579 FALSE FALSE 0.995 1.852 rs145874555 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 rs145874555&COSM459133 1 NA A:0.0002 A:0.0003 CGA G,A 0.0001153 14:64098819 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant 1.923599 0.97334 0.78804 0.732398 0.5973801 0 1.853352e-11 FALSE 9.35438e-05 ENSE00001751163_030 ENSE00001751163 030 14 64565412 64565581 + 53 75 42 G A 64565540 546 129 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTATATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098821 64098822 64098822 downstr_intron 1 1.02439 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATATAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 12 17 0 0 0 602 405 0.07152431 0.04835444 0.05993937 0.8472126 0.817894 0.8038316 0.633998 -0.8472126 -0.817894 -0.7323073 -0.5856435 0.8325533 0.7189148 -0.8325533 -0.6589754 0.1735779 TRUE TRUE 1 4.963 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 1 NA TGT G,A 8.236e-06 14:64098822 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 splice_donor_variant 3.974985 0.98268 0.91049 0.322412 0.9837172 0.967747 1.853352e-11 FALSE 4.06716e-06 ENSE00001751163_031 ENSE00001751163 031 14 64565412 64565581 + 53 75 42 T G 64565541 547 130 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTCCATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098822 64098823 64098823 downstr_intron 2 1.04878 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGGAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 178 71 0 0.03712251 0.01856125 2283 75 0.008826344 0.04134235 0.02508435 0.8472126 0.817894 0.8038316 0.633998 -0.8472126 -0.7807715 -0.7950053 -0.5926556 0.8325533 0.7189148 -0.8139921 -0.6938304 0.1201616 TRUE TRUE 1 4.024 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 1 NA GTA T,G 8.236e-06 14:64098823 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 splice_donor_variant 3.443136 0.98 0.88526 0.163922 0.9603975 0.94538 1.853352e-11 FALSE 4.06772e-06 ENSE00001751163_034 ENSE00001751163 034 14 64565412 64565581 + 53 75 42 C T 64565557 550 146 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTTTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098838 64098839 64098839 downstr_intron 18 1.439024 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTTTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 30 37 0.85 0.85 0.85 1351 474 0.8301727 0.8 0.8150863 0.8472126 0.817894 0.8038316 0.633998 0.002787386 0.032106 0.02634108 0.166002 0.8325533 0.7189148 0.01744669 0.09617155 0.07872486 FALSE FALSE 0.001 -0.164 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 1 NA TCT C,T 8.236e-06 14:64098839 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 non_coding_transcript_exon_variant 0.235932 0.1717 0.04467 0.088506 0.7090647 0.078079 1.853352e-11 FALSE NA ENSE00001751163_035 ENSE00001751163 035 14 64565412 64565581 + 53 75 42 G A 64565566 551 155 TCTGGTTCTAACAAATTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098847 64098848 64098848 downstr_intron 27 1.658537 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAATTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 31 38 0.85 0.7643516 0.8071758 588 322 0.8 0.8447472 0.8223736 0.8472126 0.817894 0.8038316 0.633998 0.002787386 -0.05354242 -0.003831605 0.2107492 0.8325533 0.7189148 -0.02537751 0.1034588 0.1288363 FALSE FALSE 0 0.136 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SYNE2 HGNC 17084 ENST00000557060 11/11 1 NA AGT G,A 8.237e-06 14:64098848 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 non_coding_transcript_exon_variant 0.94798 0.19401 0.0659 0.088506 0.7802095 0.0698953 1.853352e-11 FALSE 4.12082e-06 ENSE00001751835_001 ENSE00001751835 001 5 133536641 133536810 - 35 90 45 T C 133536654 1257 157 ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAGTTCTTTCAGAAAA 134200949 134201119 134200962 134200963 134200963 downstr_intron 22 1.647059 ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAGTTCTTTCAGAAAA ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA mutant NA NA NA NA NA 16 108 1 1 1 NA NA 0.9905029 0.9200845 NA NA 0.00949712 0.07991545 NA 0.9552937 NA 0.04470629 NA FALSE NA 0.004 -0.984 . intron_variant MODIFIER PPP2CA HGNC 9299 ENST00000481195 4/6 1 NA ATT T,C 1.647e-05 5:134200963 PPP2CA HGNC Symbol protein_coding 31808 ENSG00000113575 ENSE00001751835 intron_variant 0.280774 0.21954 0.18549 0.256867 0.4787233 0.0489367 0.9855093 TRUE 8.16173e-06 ENSE00001751835_006 ENSE00001751835 006 5 133536641 133536810 - 35 90 45 T C 133536706 1262 105 ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCGCTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA 134200949 134201119 134201014 134201015 134201015 exon -31 0.6666667 ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCGCTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA mutant NA NA NA NA NA 286 244 0.9984063 1 0.9992032 NA NA 0.9905029 0.9200845 NA NA 0.007903458 0.07991545 NA 0.9552937 NA 0.04390945 NA FALSE NA 0.291 -0.291 . synonymous_variant LOW PPP2CA HGNC 9299 ENST00000481195 4/7 1 NA GTG T,C 2.471e-05 5:134201015 PPP2CA HGNC Symbol protein_coding 31808 ENSG00000113575 ENSE00001751835 synonymous_variant 0.793333 0.90461 0.67161 0.706548 0.76846 0 0.9855093 TRUE 8.12288e-06 ENSE00001751835_008 ENSE00001751835 008 5 133536641 133536810 - 35 90 45 C T 133536739 1264 72 ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCACCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA 134200949 134201119 134201047 134201048 134201048 exon 27 0.3 ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCACCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA ACAAATTTTTTAGGTGAGGTTAACCTTTTAAACCACTCTTTTCAGATCTTCTGTCTACATGGTGGTCTCTCGCCATCTATAGATACACTGGATCATATCAGAGCACTTGATCGCCTACAAGAAGTTCCCCATGAGGTATGACTTTTATTTGATAAAATTCTTTCAGAAAA mutant NA NA NA NA NA 127 15 0.9987912 1 0.9993956 NA NA 0.9905029 0.9200845 NA NA 0.008288301 0.07991545 NA 0.9552937 NA 0.04410188 NA FALSE NA 0.009 -0.754 . synonymous_variant LOW PPP2CA HGNC 9299 ENST00000481195 4/7 COSM1433159 1 NA GCG C,T 8.236e-06 5:134201048 PPP2CA HGNC Symbol protein_coding 31808 ENSG00000113575 ENSE00001751835 synonymous_variant 2.71117 0.88879 0.15299 0.706548 0.8503099 0 0.9855093 TRUE 4.06197e-06 ENSE00001756605_007 ENSE00001756605 007 22 22326207 22326376 - 42 75 53 C G 22326251 239 126 GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTCAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT 21971834 21972004 21971878 21971879 21971879 exon -3 0.9733333 GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTCAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT mutant NA NA NA NA NA 137 41 0.9869955 1 0.9934977 NA NA 0.5353809 0.6982861 NA NA 0.4516145 0.3017139 NA 0.6168335 NA 0.3766642 NA FALSE NA 1 7.601 . downstream_gene_variant MODIFIER TOP3B HGNC 11993 ENST00000434517 rs373549523 1 NA G:0 G:0.0001 TCA C,G 8.237e-06 22:21971879 TOP3B HGNC Symbol protein_coding 25791 ENSG00000100038 ENSE00001756605 missense_variant 6.345114 0.9804 0.97998 0.706548 0.9978899 0 0.114528 FALSE 4.06184e-06 ENSE00001756605_012 ENSE00001756605 012 22 22326207 22326376 - 42 75 53 C T 22326270 244 107 GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAAGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT 21971834 21972004 21971897 21971898 21971898 exon -22 0.72 GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAAGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT mutant NA NA NA NA NA 199 40 1 0.95 0.975 NA NA 0.5353809 0.6982861 NA NA 0.4646191 0.2517139 NA 0.6168335 NA 0.3581665 NA FALSE NA 0.994 0.255 . downstream_gene_variant MODIFIER TOP3B HGNC 11993 ENST00000434517 1 NA CCT C,T 8.237e-06 22:21971898 TOP3B HGNC Symbol protein_coding 25791 ENSG00000100038 ENSE00001756605 synonymous_variant 1.846373 0.90889 0.51997 0.706548 0.8261476 0 0.114528 FALSE 4.06207e-06 ENSE00001756605_019 ENSE00001756605 019 22 22326207 22326376 - 42 75 53 G A 22326306 251 71 GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGTGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT 21971834 21972004 21971933 21971934 21971934 exon 18 0.24 GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGTGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT mutant NA NA NA NA NA 35 342 0.9517251 0.9765638 0.9641444 NA NA 0.5353809 0.6982861 NA NA 0.4163441 0.2782777 NA 0.6168335 NA 0.3473109 NA FALSE NA 0.802 0.059 . downstream_gene_variant MODIFIER TOP3B HGNC 11993 ENST00000434517 1 NA CGC G,A 2.471e-05 22:21971934 TOP3B HGNC Symbol protein_coding 25791 ENSG00000100038 ENSE00001756605 synonymous_variant 1.546764 0.8887 0.46983 0.706548 0.8729997 0 0.114528 FALSE 1.62872e-05 ENSE00001756605_022 ENSE00001756605 022 22 22326207 22326376 - 42 75 53 G A 22326348 254 29 GTGGCACAGACCGGGTCTGCAGCAGGTATGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT 21971834 21972004 21971975 21971976 21971976 upstr_intron -25 -0.4528302 GTGGCACAGACCGGGTCTGCAGCAGGTATGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT GTGGCACAGACCGGGTCTGCAGCAGGTACGTGTGAACCTGTGCTGTGTGGCAGGTGGAGGGCAGAGGCTGCGACTACATCGTGCTGTGGCTGGACTGCGACAAGGAGGGGGAGAACATCTGCTTTGAGGTGAGTGTGAGGCTCACTTTGTTCCTCACTTTTGGCCTTTCT mutant NA NA NA NA NA 35 19 0.929543 0.95 0.9397715 NA NA 0.5353809 0.6982861 NA NA 0.394162 0.2517139 NA 0.6168335 NA 0.322938 NA FALSE NA 0 -1.551 . downstream_gene_variant MODIFIER TOP3B HGNC 11993 ENST00000434517 rs375649167 1 NA A:0 A:0.0002 CGT G,A 0.0002554 22:21971976 TOP3B HGNC Symbol protein_coding 25791 ENSG00000100038 ENSE00001756605 non_coding_transcript_exon_variant 0.531667 0.21209 0.03808 0.099367 0.4624114 0.0685673 0.114528 FALSE 0.00032142 ENSE00001760293_001 ENSE00001760293 001 9 131719181 131719350 + 50 81 39 T G 131719208 2839 28 CCTGTGTGCGATTTCTGAGCTGTTCCTGACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128956928 128956929 128956929 upstr_intron -23 -0.44 CCTGTGTGCGATTTCTGAGCTGTTCCTGACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 654 622 0.9978844 0.9943645 0.9961245 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.009389271 0.0292708 0.997177 0.9767944 NA 0.01933004 NA FALSE NA 0 -1.086 . intron_variant&non_coding_transcript_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 4/4 rs377267047 1 NA G:0 G:0.0002 TTA T,G 3.295e-05 9:128956929 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 intron_variant 0.318937 0.19652 0.05884 0.156188 0.5989936 0.0653302 0.9870793 TRUE 7.70152e-05 ENSE00001760293_003 ENSE00001760293 003 9 131719181 131719350 + 50 81 39 A G 131719216 2841 36 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAGTCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128956936 128956937 128956937 upstr_intron -15 -0.28 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAGTCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 284 33 0.992358 1 0.996179 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.003862808 0.0349063 0.997177 0.9767944 NA 0.01938455 NA FALSE NA 0 0.22 . intron_variant&non_coding_transcript_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 4/4 1 NA AAT A,G 2.471e-05 9:128956937 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 intron_variant 0.233764 0.20092 0.04717 0.295142 0.5647919 0.0653302 0.9870793 TRUE 1.703e-05 ENSE00001760293_004 ENSE00001760293 004 9 131719181 131719350 + 50 81 39 T A 131719219 2842 39 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCACTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128956939 128956940 128956940 upstr_intron -12 -0.22 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCACTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 346 152 0.9989246 1 0.9994623 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.01042944 0.0349063 0.997177 0.9767944 NA 0.02266787 NA FALSE NA 0.934 2.314 . intron_variant&non_coding_transcript_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 4/4 rs369970089 1 NA A:0.0002 A:0 CTC T,A 2.471e-05 9:128956940 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 intron_variant 1.46703 0.95726 0.97755 0.295142 0.8327389 0.323322 0.9870793 TRUE 1.26563e-05 ENSE00001760293_008 ENSE00001760293 008 9 131719181 131719350 + 50 81 39 A G 131719247 2846 67 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACGGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128956967 128956968 128956968 exon 17 0.2098765 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACGGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 488 1068 0.9977865 0.9997037 0.9987451 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.009291394 0.03461002 0.997177 0.9767944 NA 0.0219507 NA FALSE NA 1 8.834 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 5/5 1 NA CAG A,G 3.295e-05 9:128956968 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 missense_variant 6.221937 0.99176 0.99451 0.706548 0.9988336 0 0.9870793 TRUE 2.03855e-05 ENSE00001760293_011 ENSE00001760293 011 9 131719181 131719350 + 50 81 39 C T 131719261 2849 81 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTATTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128956981 128956982 128956982 exon 31 0.382716 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTATTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 1271 525 0.9974442 0.9960635 0.9967538 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.008949013 0.03096977 0.997177 0.9767944 NA 0.01995939 NA FALSE NA 1 1.751 rs138379767 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 5/5 rs138379767 1 NA T:0.0005 T:0 ACT C,T 1.647e-05 9:128956982 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 missense_variant 4.530644 0.97181 0.76992 0.706548 0.9985136 0 0.9870793 TRUE 8.13498e-06 ENSE00001760293_013 ENSE00001760293 013 9 131719181 131719350 + 50 81 39 C T 131719273 2851 93 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACTTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128956993 128956994 128956994 exon -39 0.5308642 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACTTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 751 262 1 0.9427847 0.9713923 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.01150485 -0.02230905 0.997177 0.9767944 NA -0.005402098 NA FALSE NA 1 4.583 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 5/5 1 NA CCT C,T 8.236e-06 9:128956994 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 synonymous_variant 1.670963 0.98941 0.9767 0.706548 0.7882245 0 0.9870793 TRUE 1.62682e-05 ENSE00001760293_015 ENSE00001760293 015 9 131719181 131719350 + 50 81 39 G A 131719292 2853 112 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGATACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128957012 128957013 128957013 exon -20 0.7654321 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGATACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 46 87 0.9991019 1 0.999551 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.01060676 0.0349063 0.997177 0.9767944 NA 0.02275653 NA FALSE NA 1 9.34 . downstream_gene_variant MODIFIER NUP188 HGNC 17859 ENST00000550219 1 NA GGT G,A 8.236e-06 9:128957013 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 missense_variant 7.106793 0.99375 0.99488 0.706548 0.9983925 0 0.9870793 TRUE 4.07385e-06 ENSE00001768543_022 ENSE00001768543 022 22 24204250 24204419 + 41 99 30 G A 24204383 312 134 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCAACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC 23862062 23862232 23862195 23862196 23862196 exon -7 0.9393939 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCAACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 134 102 1 0.999626 0.999813 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06925154 0.00421677 0.9881655 0.9630789 NA 0.03673416 NA FALSE NA 0.001 -1.928 rs185337121 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/4 rs185337121&COSM1327305 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGA G,A 6.589e-05 22:23862196 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 synonymous_variant 0.541312 0.44667 0.00853 0.77792 0.7632514 0 5.459337e-12 FALSE 9.34937e-05 ENSE00001768543_023 ENSE00001768543 023 22 24204250 24204419 + 41 99 30 G A 24204406 313 157 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGAGTGGAGACTGTCC 23862062 23862232 23862218 23862219 23862219 downstr_intron 17 1.586207 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGAGTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 271 91 0.9924844 0.9982581 0.9953712 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06173593 0.002848815 0.9881655 0.9630789 NA 0.03229237 NA FALSE NA 0 -0.186 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/3 1 NA GGG G,A 8.236e-06 22:23862219 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 non_coding_transcript_exon_variant -0.278372 0.16005 0.00876 0.053988 0.3197959 0.0757631 5.459337e-12 FALSE 8.14989e-06 ENSE00001768543_024 ENSE00001768543 024 22 24204250 24204419 + 41 99 30 G T 24204407 314 158 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGTTGGAGACTGTCC 23862062 23862232 23862219 23862220 23862220 downstr_intron 18 1.62069 GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGTTGGAGACTGTCC GGCTGTTGTTGGTCACTCTGTGTTCTCTCCTCTCTCCTCAGATTCAGGGCAGGATCCTGCTCCTGACCATCTGCGCTGCCGGCATTGGTGGGACTTTTCAGTTTGGCTATAACCTCTCTATCATCAATGCCCCGACCTTGGTATGTATCCTCTCTGGGTGGAGACTGTCC mutant NA NA NA NA NA 248 852 0.9935185 0.9990503 0.9962844 0.984433 0.9918979 0.9307485 0.9954092 NA NA 0.06277008 0.00364102 0.9881655 0.9630789 NA 0.03320555 NA FALSE NA 0.004 1.096 . intron_variant&non_coding_transcript_variant MODIFIER SLC2A11 HGNC 14239 ENST00000440493 3/3 1 NA GGT G,T 8.236e-06 22:23862220 SLC2A11 HGNC Symbol protein_coding 29606 ENSG00000133460 ENSE00003748188 non_coding_transcript_exon_variant -0.15582 0.20553 0.03946 0.053988 0.3829935 0.0751682 5.459337e-12 FALSE 8.15222e-06 ENSE00001771057_002 ENSE00001771057 002 10 73270645 73270814 + 66 48 56 A T 73270667 1615 23 AGGGCCCAGGACCCAGGACCTCTGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510909 71510910 71510910 upstr_intron -44 -0.6515152 AGGGCCCAGGACCCAGGACCTCTGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 18 50 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 0 0.094 . intron_variant MODIFIER CDH23 HGNC 13733 ENST00000398809 4/13 1 NA CAG A,T 8.273e-06 10:71510910 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant 0.807759 0.19375 0.10035 0.080785 0.8274744 0.111558 0.05069296 FALSE NA ENSE00001771057_003 ENSE00001771057 003 10 73270645 73270814 + 66 48 56 C G 73270669 1616 25 AGGGCCCAGGACCCAGGACCTCAGGACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510911 71510912 71510912 upstr_intron -42 -0.6212121 AGGGCCCAGGACCCAGGACCTCAGGACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 257 35 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 0 -0.343 . intron_variant MODIFIER CDH23 HGNC 13733 ENST00000398809 4/13 rs374027211 1 NA G:0 G:0.0001 GCA C,G 8.273e-06 10:71510912 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant 0.579529 0.17404 0.05314 0.080785 0.6382752 0.111558 0.05069296 FALSE 4.06616e-06 ENSE00001771057_012 ENSE00001771057 012 10 73270645 73270814 + 66 48 56 C T 73270687 1625 43 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCTTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510929 71510930 71510930 upstr_intron -24 -0.3484848 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCTTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 21 48 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 0 -0.031 . intron_variant MODIFIER CDH23 HGNC 13733 ENST00000398809 4/13 1 NA CCT C,T 8.275e-06 10:71510930 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant 0.218215 0.24921 0.08322 0.055872 0.7296495 0.135682 0.05069296 FALSE 8.12533e-06 ENSE00001771057_014 ENSE00001771057 014 10 73270645 73270814 + 66 48 56 T C 73270702 1627 58 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTCTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510944 71510945 71510945 upstr_intron -9 -0.1212121 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTCTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 164 134 0.9863813 0.9974023 0.9918918 NA NA 0.9454749 0.8975113 NA NA 0.0409064 0.09989097 NA 0.9214931 NA 0.07039868 NA FALSE NA 0.002 0.264 . intron_variant MODIFIER CDH23 HGNC 13733 ENST00000398809 4/13 rs556222869 1 C:0.0002 C:0 C:0 NA C:0.001 C:0 C:0 TTT T,C 8.275e-06 10:71510945 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant 1.266518 0.24246 0.09457 0.055872 0.7373413 0.261911 0.05069296 FALSE 8.12282e-06 ENSE00001771057_021 ENSE00001771057 021 10 73270645 73270814 + 66 48 56 A G 73270733 1634 89 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGGGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510975 71510976 71510976 exon 23 0.4791667 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGGGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 156 24 0.99894 1 0.99947 NA NA 0.9454749 0.8975113 NA NA 0.05346508 0.1024887 NA 0.9214931 NA 0.07797688 NA FALSE NA 1 5.044 . missense_variant MODERATE CDH23 HGNC 13733 ENST00000398809 5/14 rs372335230 1 possibly_damaging(0.872) NA G:0 G:0.0002 GAG A,G 2.482e-05 10:71510976 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 missense_variant 3.625865 0.95361 0.92731 0.656854 0.9992772 0 0.05069296 FALSE 1.62455e-05 ENSE00001771057_022 ENSE00001771057 022 10 73270645 73270814 + 66 48 56 C G 73270743 1635 99 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTGAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510985 71510986 71510986 exon -16 0.6875 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTGAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 230 399 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 1 2.577 . synonymous_variant LOW CDH23 HGNC 13733 ENST00000398809 5/14 1 NA TCA C,G 2.482e-05 10:71510986 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 synonymous_variant 1.296103 0.93864 0.80942 0.656854 0.8870775 0 0.05069296 FALSE 2.03072e-05 ENSE00001771057_023 ENSE00001771057 023 10 73270645 73270814 + 66 48 56 C T 73270746 1636 102 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGTGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510988 71510989 71510989 exon -13 0.75 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGTGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 83 69 0.9976463 0.9988892 0.9982678 NA NA 0.9454749 0.8975113 NA NA 0.0521714 0.1013779 NA 0.9214931 NA 0.07677465 NA FALSE NA 0.886 -0.054 . synonymous_variant LOW CDH23 HGNC 13733 ENST00000398809 5/14 rs373668614 1 NA T:0.0003 T:0 GCG C,T 4.137e-05 10:71510989 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 synonymous_variant 2.586532 0.26698 0.19429 0.656854 0.8184471 0 0.05069296 FALSE 6.90462e-05 ENSE00001771057_024 ENSE00001771057 024 10 73270645 73270814 + 66 48 56 G A 73270747 1637 103 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCAACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510989 71510990 71510990 exon -12 0.7708333 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCAACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 10 98 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 1 8.683 . missense_variant MODERATE CDH23 HGNC 13733 ENST00000398809 5/14 rs199793172 1 possibly_damaging(0.69) NA CGA G,A 4.964e-05 10:71510990 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 missense_variant 7.053731 0.97374 0.96926 0.656854 0.999296 0 0.05069296 FALSE 6.90445e-05 ENSE00001771057_028 ENSE00001771057 028 10 73270645 73270814 + 66 48 56 T G 73270779 1641 135 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCGGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71511021 71511022 71511022 downstr_intron 21 1.381818 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCGGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 118 30 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 0 -1.105 . intron_variant MODIFIER CDH23 HGNC 13733 ENST00000398809 5/13 1 NA CTG T,G 8.273e-06 10:71511022 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant 0.164456 0.24283 0.0889 0.055872 0.6407391 0.137425 0.05069296 FALSE 4.06141e-06 ENSE00001771057_029 ENSE00001771057 029 10 73270645 73270814 + 66 48 56 T C 73270787 1642 143 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCACGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71511029 71511030 71511030 downstr_intron 29 1.527273 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCACGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 14 37 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 0 -0.676 . intron_variant MODIFIER CDH23 HGNC 13733 ENST00000398809 5/13 1 NA ATG T,C 1.655e-05 10:71511030 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant 0.581994 0.20968 0.10538 0.055872 0.67395 0.113133 0.05069296 FALSE 8.12275e-06 ENSE00001771057_030 ENSE00001771057 030 10 73270645 73270814 + 66 48 56 G A 73270788 1643 144 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATATTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71511030 71511031 71511031 downstr_intron 30 1.545455 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATATTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 136 24 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 0.001 0.1 . intron_variant MODIFIER CDH23 HGNC 13733 ENST00000398809 5/13 1 NA TGT G,A 8.273e-06 10:71511031 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant 0.72439 0.20052 0.11073 0.055872 0.7546658 0.113133 0.05069296 FALSE 8.12282e-06 ENSE00001775517_003 ENSE00001775517 003 22 39137458 39137627 - 41 78 51 A G 39137471 924 157 AGGACCCAGTCACGGGCCCTGAGTGCCGCAAGCCCGCTGACCTGGGAGGCCCGGACGATCTTCTTGAAGAGGTCTTCTGAGTCTTGCTGATGCTCTGCTCTCAGGGCAGACAGTTCTTCCTGTGAGACGGGAGTGAGAGGACAGGTTGGACAGAGCCATGCTTATAGGGA 38741452 38741622 38741465 38741466 38741466 downstr_intron 28 1.7 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCCGTGACTGGGTCCT TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT mutant NA NA NA NA NA 69 71 1 1 1 0.9987633 0.9927101 0.9664572 0.7976902 NA NA 0.03354279 0.2023098 0.9957367 0.8820737 NA 0.1179263 NA FALSE NA 0 0.443 . downstream_gene_variant MODIFIER SUN2 HGNC 14210 ENST00000430185 1 NA CAG A,G 8.237e-06 22:38741466 SUN2 HGNC Symbol protein_coding 59418 ENSG00000100242 ENSE00003553989 intron_variant 0.212151 0.1252 0.26769 0.256867 0.7133208 0.0511281 2.408332e-07 FALSE 1.22365e-05 ENSE00001775517_005 ENSE00001775517 005 22 39137458 39137627 - 41 78 51 G A 39137478 926 150 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTTAGGGCCTGTGACTGGGTCCT 38741452 38741622 38741472 38741473 38741473 downstr_intron 21 1.525 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTTAGGGCCTGTGACTGGGTCCT TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT mutant NA NA NA NA NA 255 110 1 1 1 0.9987633 0.9927101 0.9664572 0.7976902 NA NA 0.03354279 0.2023098 0.9957367 0.8820737 NA 0.1179263 NA FALSE NA 0 -1.794 rs118118117 downstream_gene_variant MODIFIER SUN2 HGNC 14210 ENST00000430185 rs118118117 1 A:0.0008 A:0 A:0 NA A:0.004 A:0 A:0 A:0 A:0.0002 TGA G,A 0.001277 22:38741473 SUN2 HGNC Symbol protein_coding 59418 ENSG00000100242 ENSE00003553989 intron_variant 0.389283 0.08701 0.10394 0.256867 0.8516255 0.0726598 2.408332e-07 FALSE 0.00134441 ENSE00001775517_009 ENSE00001775517 009 22 39137458 39137627 - 41 78 51 C T 39137492 930 136 AGGACCCAGTCACAGGCCCTGAGTGCCGCAAGCCTGCTGACCTGGGAGGCCCGGACGATCTTCTTGAAGAGGTCTTCTGAGTCTTGCTGATGCTCTGCTCTCAGGGCAGACAGTTCTTCCTGTGAGACGGGAGTGAGAGGACAGGTTGGACAGAGCCATGCTTATAGGGA 38741452 38741622 38741486 38741487 38741487 downstr_intron 7 1.175 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCAGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT mutant NA NA NA NA NA 123 626 0.9835174 0.9648895 0.9742034 0.9987633 0.9927101 0.9664572 0.7976902 NA NA 0.01706016 0.1671992 0.9957367 0.8820737 NA 0.09212969 NA FALSE NA 0 -0.11 . downstream_gene_variant MODIFIER SUN2 HGNC 14210 ENST00000430185 rs369532029 1 NA T:0.0023 T:0 CCG C,T 0.0002059 22:38741487 SUN2 HGNC Symbol protein_coding 59418 ENSG00000100242 ENSE00003553989 splice_region_variant 0.427385 0.14177 0.21851 0.256867 0.5847378 0.176934 2.408332e-07 FALSE 0.000146474 ENSE00001775517_016 ENSE00001775517 016 22 39137458 39137627 - 41 78 51 G A 39137514 937 114 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATTGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT 38741452 38741622 38741508 38741509 38741509 exon -16 0.8076923 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATTGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT mutant NA NA NA NA NA 137 86 1 1 1 0.9987633 0.9927101 0.9664572 0.7976902 NA NA 0.03354279 0.2023098 0.9957367 0.8820737 NA 0.1179263 NA FALSE NA 0.379 -0.795 . downstream_gene_variant MODIFIER SUN2 HGNC 14210 ENST00000430185 rs370844999&COSM1034187 1 NA CGA G,A 4.118e-05 22:38741509 SUN2 HGNC Symbol protein_coding 59418 ENSG00000100242 ENSE00003553989 synonymous_variant 2.467554 0.30584 0.09745 0.706548 0.8832125 0 2.408332e-07 FALSE 3.2523e-05 ENSE00001775517_020 ENSE00001775517 020 22 39137458 39137627 - 41 78 51 C T 39137559 941 69 AGGACCCAGTCACAGGCCCTGAGTGCCGCAAGCCCGCTGACCTGGGAGGCCCGGACGATCTTCTTGAAGAGGTCTTCTGAGTCTTGCTGATGCTCTGCTCTTAGGGCAGACAGTTCTTCCTGTGAGACGGGAGTGAGAGGACAGGTTGGACAGAGCCATGCTTATAGGGA 38741452 38741622 38741553 38741554 38741554 exon 18 0.2307692 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTAAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT mutant NA NA NA NA NA 91 48 1 1 1 0.9987633 0.9927101 0.9664572 0.7976902 NA NA 0.03354279 0.2023098 0.9957367 0.8820737 NA 0.1179263 NA FALSE NA 0.755 0.301 rs148566278 downstream_gene_variant MODIFIER SUN2 HGNC 14210 ENST00000430185 rs148566278 1 NA T:0.0007 T:0.0001 TCA C,T 4.118e-05 22:38741554 SUN2 HGNC Symbol protein_coding 59418 ENSG00000100242 ENSE00003553989 synonymous_variant 0.884165 0.18736 0.48901 0.706548 0.8249055 0 2.408332e-07 FALSE 2.84493e-05 ENSE00001775517_027 ENSE00001775517 027 22 39137458 39137627 - 41 78 51 G A 39137617 948 11 TCCCTATAAGTATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT 38741452 38741622 38741611 38741612 38741612 upstr_intron -41 -0.7843137 TCCCTATAAGTATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT mutant NA NA NA NA NA 336 449 0.9988924 1 0.9994462 0.9987633 0.9927101 0.9664572 0.7976902 NA NA 0.03243522 0.2023098 0.9957367 0.8820737 NA 0.1173725 NA FALSE NA 0 -0.141 rs142183145 downstream_gene_variant MODIFIER SUN2 HGNC 14210 ENST00000430185 rs142183145 1 A:0.0012 A:0.0045 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 TGC G,A 9.884e-05 22:38741612 SUN2 HGNC Symbol protein_coding 59418 ENSG00000100242 ENSE00003553989 intron_variant 0.054445 0.12464 0.07496 0.256867 0.3646888 0.0497292 2.408332e-07 FALSE 6.56259e-05 ENSE00001778416_016 ENSE00001778416 016 6 30879152 30879321 + 56 69 45 T C 30879264 598 113 CTTCCCATTGTCTCCCTCCCATCCCTCCTCCTTTGTCTCTGCCTCTTTCTCCCTAGAGCCGGGGCATGGACCTGGTAGAGATTCTCTCCTTCCTCTTCCAGCTCAGCTTCTCCACTCTGGGCAAGGTAAGCAGGGGGCTGAAAGGTATAGAGATGGGAAGGGGAAAGCAA 30911374 30911544 30911486 30911487 30911487 exon -13 0.826087 CTTCCCATTGTCTCCCTCCCATCCCTCCTCCTTTGTCTCTGCCTCTTTCTCCCTAGAGCCGGGGCATGGACCTGGTAGAGATTCTCTCCTTCCTCTTCCAGCTCAGCTTCTCCACTCTGGGCAAGGTAAGCAGGGGGCTGAAAGGTATAGAGATGGGAAGGGGAAAGCAA CTTCCCATTGTCTCCCTCCCATCCCTCCTCCTTTGTCTCTGCCTCTTTCTCCCTAGAGCCGGGGCATGGACCTGGTAGAGATTCTCTCCTTCCTCTTCCAGCTCAGCTTCTCTACTCTGGGCAAGGTAAGCAGGGGGCTGAAAGGTATAGAGATGGGAAGGGGAAAGCAA mutant NA NA NA NA NA 64 142 0.9834708 0.95 0.9667354 NA NA 0.9472475 0.9419417 NA NA 0.03622331 0.008058263 NA 0.9445946 NA 0.02214079 NA FALSE NA 0.128 -0.487 . synonymous_variant LOW GTF2H4 HGNC 4658 ENST00000376316 8/14 1 NA CTA T,C 8.236e-06 6:30911487 GTF2H4 HGNC Symbol protein_coding 5922 ENSG00000213780 ENSE00003543566 synonymous_variant 0.225148 0.81306 0.2367 0.706548 0.7453738 0 0.2580349 FALSE 4.06081e-06 ENSE00001789671_010 ENSE00001789671 010 1 19215823 19215992 - 33 93 44 T C 19215890 509 103 AGGGGCTGAGCTCTGCCCACCCGCTGGACATACCGACACTTGGTACTGCACGTCCGACGTCCACACCCCCTCATCCCCCACCACGCATGGGATGGCTTCCATCCGGCCCTTCAGGTCCTTCAAGGCCTGGGGAGAGGGACAAGAGTGGGTATGGTCACCGCCTTCCTCGC 18889328 18889498 18889395 18889396 18889396 exon -35 0.6344086 GCGAGGAAGGCGGTGACCATACCCACTCTTGTCCCTCTCCCCAGGCCTTGAAGGACCTGAAGGGCCGGATGGAAGCCATCCCATGCGTGGTGGGGGATGAGGGGGTGTGGACGTCGGACGTGCAGTACCAAGTGTCGGTATGTCCAGCGGGTGGGCAGAGCTCAGCCCCT GCGAGGAAGGCGGTGACCATACCCACTCTTGTCCCTCTCCCCAGGCCTTGAAGGACCTGAAGGGCCGGATGGAAGCCATCCCATGCGTGGTGGGGGATGAGGAGGTGTGGACGTCGGACGTGCAGTACCAAGTGTCGGTATGTCCAGCGGGTGGGCAGAGCTCAGCCCCT mutant 134 21 0 0 0 NA NA NA NA NA NA NA 0.9958105 0.9998467 NA NA NA NA NA 0.9978286 NA NA NA NA NA 1 7.349 . missense_variant MODERATE ALDH4A1 HGNC 406 ENST00000538309 3/15 1 deleterious(0) possibly_damaging(0.77) NA CTC T,C 9.942e-06 1:18889396 ALDH4A1 HGNC Symbol protein_coding 31351 ENSG00000159423 ENSE00003467881 missense_variant 6.256179 0.98857 0.97934 0.706298 0.9991235 0 0.0004340435 FALSE NA ENSE00001790337_001 ENSE00001790337 001 8 41393832 41394001 + 47 87 36 T C 41393853 885 22 AGCTCTGTGGTGGGTGATGCTCGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536333 41536334 41536334 upstr_intron -26 -0.5319149 AGCTCTGTGGTGGGTGATGCTCGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 668 6225 0.9923187 0.9905694 0.991444 0.9867207 0.989932 0.95585 0.882975 NA NA 0.03646872 0.1075944 0.9883263 0.9194125 NA 0.07203158 NA FALSE NA 0 0.058 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 1 NA TTG T,C 8.236e-06 8:41536334 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 intron_variant -0.059146 0.11502 0.06445 0.156188 0.4250977 0.0771427 NA NA 4.06798e-06 ENSE00001790337_002 ENSE00001790337 002 8 41393832 41394001 + 47 87 36 C G 41393855 886 24 AGCTCTGTGGTGGGTGATGCTTGGTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536335 41536336 41536336 upstr_intron -24 -0.4893617 AGCTCTGTGGTGGGTGATGCTTGGTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 85 631 1 0.9999397 0.9999698 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04415004 0.1169647 0.9883263 0.9194125 NA 0.08055737 NA FALSE NA 0 -2.378 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 1 NA GCT C,G 3.295e-05 8:41536336 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 intron_variant -0.427985 0.14366 0.05052 0.156188 0.3383743 0.0771427 NA NA 1.62768e-05 ENSE00001790337_003 ENSE00001790337 003 8 41393832 41394001 + 47 87 36 A G 41393866 887 35 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCGTTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536346 41536347 41536347 upstr_intron -13 -0.2553191 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCGTTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 1707 151 0.9982197 0.9978995 0.9980596 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04236971 0.1149245 0.9883263 0.9194125 NA 0.0786471 NA FALSE NA 0 -1.113 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 1 NA CAT A,G 8.236e-06 8:41536347 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 intron_variant 1.753305 0.17737 0.01987 0.295142 0.8668523 0.21362 NA NA 8.12731e-06 ENSE00001790337_004 ENSE00001790337 004 8 41393832 41394001 + 47 87 36 G C 41393908 888 77 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGACCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536388 41536389 41536389 exon 30 0.3448276 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGACCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 717 317 0.9999426 1 0.9999713 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04409263 0.117025 0.9883263 0.9194125 NA 0.08055883 NA FALSE NA 1 0.722 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 1 NA AGC G,C 8.236e-06 8:41536389 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 missense_variant 1.964924 0.89207 0.74911 0.730579 0.9934067 0 NA NA 4.06121e-06 ENSE00001790337_006 ENSE00001790337 006 8 41393832 41394001 + 47 87 36 A T 41393916 890 85 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGTGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536396 41536397 41536397 exon 38 0.4367816 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGTGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 170 240 1 1 1 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04415004 0.117025 0.9883263 0.9194125 NA 0.08058754 NA FALSE NA 1 8.786 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 1 NA GAG A,T 8.236e-06 8:41536397 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 missense_variant 3.718679 0.95453 0.94935 0.730579 0.9911323 0 NA NA 4.06138e-06 ENSE00001790337_007 ENSE00001790337 007 8 41393832 41394001 + 47 87 36 G A 41393917 891 86 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAAAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536397 41536398 41536398 exon 39 0.4482759 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAAAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 781 354 1 0.9998924 0.9999462 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04415004 0.1169175 0.9883263 0.9194125 NA 0.08053375 NA FALSE NA 1 2.338 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 1 NA AGA G,A 4.942e-05 8:41536398 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 synonymous_variant 1.447264 0.89544 0.63115 0.730579 0.7155925 0 NA NA 3.24905e-05 ENSE00001790337_009 ENSE00001790337 009 8 41393832 41394001 + 47 87 36 G A 41393940 893 109 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATATGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536420 41536421 41536421 exon -26 0.7126437 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATATGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 761 360 1 0.9997883 0.9998941 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04415004 0.1168133 0.9883263 0.9194125 NA 0.08048168 NA FALSE NA 1 9.289 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 1 NA TGT G,A 8.236e-06 8:41536421 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 missense_variant 5.884933 0.96889 0.96336 0.730579 0.9974612 0 NA NA 4.06194e-06 ENSE00001790337_011 ENSE00001790337 011 8 41393832 41394001 + 47 87 36 G A 41393957 895 126 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGAAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536437 41536438 41536438 exon -9 0.908046 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGAAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 259 961 1 0.9983596 0.9991798 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04415004 0.1153847 0.9883263 0.9194125 NA 0.07976736 NA FALSE NA 0.996 4.005 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 rs374321820 1 NA A:0 A:0.0001 GGA G,A 4.942e-05 8:41536438 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 missense_variant 0.982314 0.31398 0.63151 0.730579 0.8495629 0 NA NA 5.28322e-05 ENSE00001790337_014 ENSE00001790337 014 8 41393832 41394001 + 47 87 36 C T 41393974 898 143 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTTGCTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536454 41536455 41536455 downstr_intron 9 1.257143 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTTGCTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 477 769 0.9961222 0.9946259 0.9953741 0.9867207 0.989932 0.95585 0.882975 NA NA 0.0402722 0.111651 0.9883263 0.9194125 NA 0.07596159 NA FALSE NA 0 -0.151 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 rs373345062 1 T:0.0008 T:0.0023 T:0.0014 NA T:0 T:0 T:0 T:0.0014 T:0.0001 TCG C,T 0.0002059 8:41536455 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 intron_variant 0.444376 0.19791 0.03414 0.108992 0.5617517 0.078858 NA NA 0.000159002 ENSE00001790337_016 ENSE00001790337 016 8 41393832 41394001 + 47 87 36 C T 41393976 900 145 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGTTTGTCTTGGGTTGACAAAGGAGGAG 41536312 41536482 41536456 41536457 41536457 downstr_intron 11 1.314286 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGTTTGTCTTGGGTTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 34 56 1 1 1 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04415004 0.117025 0.9883263 0.9194125 NA 0.08058754 NA FALSE NA 0.001 0.419 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 1 NA GCT C,T 2.471e-05 8:41536457 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 intron_variant 0.306206 0.27281 0.05931 0.108992 0.6341421 0.078858 NA NA 1.22337e-05 ENSE00001790337_018 ENSE00001790337 018 8 41393832 41394001 + 47 87 36 T C 41393987 902 156 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGCTGACAAAGGAGGAG 41536312 41536482 41536467 41536468 41536468 downstr_intron 22 1.628571 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGCTGACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 398 547 0.9982288 1 0.9991144 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04237885 0.117025 0.9883263 0.9194125 NA 0.07970194 NA FALSE NA 0 0.016 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 rs376586655 1 NA C:0 C:0.0001 GTT T,C 8.237e-06 8:41536468 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 intron_variant -0.198117 0.19479 0.04359 0.108992 0.3864578 0.078858 NA NA 4.10418e-06 ENSE00001790337_019 ENSE00001790337 019 8 41393832 41394001 + 47 87 36 G A 41393989 903 158 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTAACAAAGGAGGAG 41536312 41536482 41536469 41536470 41536470 downstr_intron 24 1.685714 AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTAACAAAGGAGGAG AGCTCTGTGGTGGGTGATGCTTGCTTTTTCTGGCATTTGTCTTTTAGGCCTGGATGAATGAAAAGTTTGCCCCTGAGCTGCTGGAGAGCAAGCCTGAGATTGTAGAATGTGTCATGGAACAGCTGGAGCACATGGTAAGAGTCGCTTGTCTTGGGTTGACAAAGGAGGAG mutant NA NA NA NA NA 1723 454 0.9989443 0.9974181 0.9981812 0.9867207 0.989932 0.95585 0.882975 NA NA 0.04309435 0.1144431 0.9883263 0.9194125 NA 0.07876873 NA FALSE NA 0 -0.062 . intron_variant&non_coding_transcript_variant MODIFIER RP11-360L9.4 Clone_based_vega_gene NA ENST00000523081 2/2 rs370101753 1 NA A:0.0002 A:0 TGA G,A 1.647e-05 8:41536470 AC009630.1 Clone-based (Ensembl) gene antisense 44213 ENSG00000253133 ENSE00003554215 intron_variant 0.023178 0.21599 0.06734 0.108992 0.3530542 0.078858 NA NA 2.06102e-05 ENSE00001991862_002 ENSE00001991862 002 6 10891690 10891859 + 56 69 45 A G 10891727 48 38 GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACGTGTTTTTATTCCACACAGAAAAACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT 10891456 10891626 10891493 10891494 10891494 upstr_intron -19 -0.3214286 GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACGTGTTTTTATTCCACACAGAAAAACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACATGTTTTTATTCCACACAGAAAAACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT mutant NA NA NA NA NA 94 1152 1 1 1 NA NA 0.95746 0.8612604 NA NA 0.04253995 0.1387396 NA 0.9093602 NA 0.0906398 NA FALSE NA 0 -1.127 . intron_variant MODIFIER SYCP2L HGNC 21537 ENST00000543878 3/18 rs565159023 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CAT A,G 1.656e-05 6:10891494 SYCP2L HGNC Symbol protein_coding 92489 ENSG00000153157 ENSE00003579113 intron_variant -0.32135 0.13904 0.01199 0.053691 0.4958798 0.044666 4.344139e-11 FALSE 9.04584e-06 ENSE00001991862_007 ENSE00001991862 007 6 10891690 10891859 + 56 69 45 A G 10891749 53 60 GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACATGTTTTTATTCCACACAGAAAGACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT 10891456 10891626 10891515 10891516 10891516 exon 4 0.05797101 GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACATGTTTTTATTCCACACAGAAAGACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT GAAATGCATTTCTTTGAAATAAAAATTGTTTAAAAACATGTTTTTATTCCACACAGAAAAACAAAGATGCTTTGCAGCCTATTAAGGAAGACAGGACTGGGAAGGCCCAGGATGATGCTTTCTGGGTAAAGATCAAGTTTCTTTTATAATCTCTCTCTGTGTGTGTGTGT mutant NA NA NA NA NA 64 13 1 1 1 NA NA 0.95746 0.8612604 NA NA 0.04253995 0.1387396 NA 0.9093602 NA 0.0906398 NA FALSE NA 0.001 -0.175 . 5_prime_UTR_variant MODIFIER SYCP2L HGNC 21537 ENST00000543878 4/19 1 NA AAA A,G 8.278e-06 6:10891516 SYCP2L HGNC Symbol protein_coding 92489 ENSG00000153157 ENSE00003579113 missense_variant -0.690041 0.12238 0.00704 0.615465 0.9342091 0 4.344139e-11 FALSE 4.21447e-06 ENSE00002034161_001 ENSE00002034161 001 2 27825289 27825458 + 41 99 30 C T 27825299 596 11 CAGAAGGAATTGCTGTCCTTGGGCCCTTACCTCACGCATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATAATTCATGGAA 27602421 27602591 27602431 27602432 27602432 upstr_intron -31 -0.7317073 TTCCATGAATTATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 32 715 0.8744709 0.9092487 0.8918598 0.85 0.8368197 0.7811448 0.8067567 NA NA 0.09332609 0.102492 0.8434098 0.7939508 NA 0.09790903 NA FALSE NA 0.001 -0.232 . downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 rs375989152 1 NA T:0 T:0.0002 TCA C,T 3.295e-05 2:27602432 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 intron_variant 0.796392 0.19506 0.0493 0.295142 0.680229 0.178512 0.949147 TRUE 4.71249e-05 ENSE00002034161_006 ENSE00002034161 006 2 27825289 27825458 + 41 99 30 T G 27825320 601 32 CAGAAGGAATTGCTGTCCTTGGGCCCTTACCTCACGCATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCCAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 27602452 27602453 27602453 upstr_intron -10 -0.2195122 TTCCATGAATCATCTTCTTGTTTACTTCTCTGGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 1150 122 0.00394249 0.02467728 0.01430989 0.85 0.8368197 0.7811448 0.8067567 NA NA -0.7772023 -0.7820794 0.8434098 0.7939508 NA -0.7796409 NA TRUE NA 0.993 2.402 . downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 1 NA TTG T,G 8.236e-06 2:27602453 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 intron_variant 2.043581 0.69992 0.91365 0.295142 0.7833483 0.463266 0.949147 TRUE 4.12739e-06 ENSE00002034161_008 ENSE00002034161 008 2 27825289 27825458 + 41 99 30 A G 27825333 603 45 CAGAAGGAATTGCTGTCCTTGGGCCCTTACCTCACGCATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAACGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 27602465 27602466 27602466 exon 4 0.04040404 TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCGTTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 1032 356 0.9376421 0.9652066 0.9514243 0.85 0.8368197 0.7811448 0.8067567 NA NA 0.1564973 0.1584499 0.8434098 0.7939508 NA 0.1574736 NA FALSE NA 0.988 2.138 . downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 1 NA CAT A,G 1.647e-05 2:27602466 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 missense_variant 2.32673 0.97496 0.92509 0.706548 0.7917397 0 0.949147 TRUE 1.22427e-05 ENSE00002034161_019 ENSE00002034161 019 2 27825289 27825458 + 41 99 30 G C 27825400 614 112 CAGAAGGAATTGCTGTCCTTGGGCCCTTACCTCACGCATGCACCTGAGCTTTCCCAGTGTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 27602532 27602533 27602533 exon -29 0.7171717 TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGACACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 35 98 0.95 0.95 0.95 0.85 0.8368197 0.7811448 0.8067567 NA NA 0.1688552 0.1432433 0.8434098 0.7939508 NA 0.1560492 NA FALSE NA 1 8.405 . downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 1 NA AGA G,C 8.236e-06 2:27602533 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 missense_variant 6.40762 0.99375 0.99581 0.706548 0.9874874 0 0.949147 TRUE 4.07156e-06 ENSE00002034161_021 ENSE00002034161 021 2 27825289 27825458 + 41 99 30 G A 27825416 616 128 CAGAAGGAATTGCTGTCCTTGGGCCCTTACCTCACGCATGCATCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 27602548 27602549 27602549 exon -13 0.8787879 TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGATGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 225 296 0.9573454 0.9867718 0.9720586 0.85 0.8368197 0.7811448 0.8067567 NA NA 0.1762006 0.180015 0.8434098 0.7939508 NA 0.1781078 NA FALSE NA 1 2.614 rs112191630 downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 rs112191630 1 NA GGT G,A 8.236e-06 2:27602549 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 synonymous_variant 2.249858 0.97479 0.90637 0.706548 0.8326637 0 0.949147 TRUE 4.0801e-06 ENSE00002034161_022 ENSE00002034161 022 2 27825289 27825458 + 41 99 30 G A 27825422 617 134 CAGAAGGAATTGCTGTCCTTGGGCCCTTACCTCACGTATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 27602554 27602555 27602555 exon -7 0.9393939 TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATACGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 18 46 0.95 0.95 0.95 0.85 0.8368197 0.7811448 0.8067567 NA NA 0.1688552 0.1432433 0.8434098 0.7939508 NA 0.1560492 NA FALSE NA 0.999 0.704 . downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 1 NA TGC G,A 8.236e-06 2:27602555 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 missense_variant 2.902968 0.97284 0.82526 0.706548 0.9827029 0 0.949147 TRUE 4.09128e-06 ENSE00002034161_024 ENSE00002034161 024 2 27825289 27825458 + 41 99 30 A G 27825439 619 151 CAGAAGGAATTGCTGTCCTCGGGCCCTTACCTCACGCATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 27602571 27602572 27602572 downstr_intron 11 1.37931 TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCGAGGACAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 66 12 0.8 0.8 0.8 0.85 0.8368197 0.7811448 0.8067567 NA NA 0.01885519 -0.006756732 0.8434098 0.7939508 NA 0.006049227 NA FALSE NA 0 -0.257 . downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 1 NA CAA A,G 8.237e-06 2:27602572 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 intron_variant 0.263539 0.17524 0.06018 0.099367 0.2411571 0.168287 0.949147 TRUE 8.66153e-06 ENSE00002034161_025 ENSE00002034161 025 2 27825289 27825458 + 41 99 30 C G 27825444 620 156 CAGAAGGAATTGCTCTCCTTGGGCCCTTACCTCACGCATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 27602576 27602577 27602577 downstr_intron 16 1.551724 TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGAGAGCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 330 736 0.9643206 0.9125356 0.9384281 0.85 0.8368197 0.7811448 0.8067567 NA NA 0.1831758 0.1057789 0.8434098 0.7939508 NA 0.1444773 NA FALSE NA 0 0.215 . downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 1 NA ACA C,G 1.647e-05 2:27602577 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 intron_variant 0.026266 0.25057 0.12466 0.099367 0.2826393 0.153832 0.949147 TRUE 8.87288e-06 ENSE00002034161_026 ENSE00002034161 026 2 27825289 27825458 + 41 99 30 G C 27825446 621 158 CAGAAGGAATTGGTGTCCTTGGGCCCTTACCTCACGCATGCACCTGAGCTTTCCCAGTCTCTTTAGAACTGTTCGGAGCCTTTCCCTCTCACTTGGCTCATCTATTTCATCTCCGGCTTTCAAAATGGGCTAGAAATCAAGAGAAGTAAACAAGAAGATGATTCATGGAA 27602421 27602591 27602578 27602579 27602579 downstr_intron 18 1.62069 TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACACCAATTCCTTCTG TTCCATGAATCATCTTCTTGTTTACTTCTCTTGATTTCTAGCCCATTTTGAAAGCCGGAGATGAAATAGATGAGCCAAGTGAGAGGGAAAGGCTCCGAACAGTTCTAAAGAGACTGGGAAAGCTCAGGTGCATGCGTGAGGTAAGGGCCCAAGGACAGCAATTCCTTCTG mutant NA NA NA NA NA 1033 666 0.7878504 0.9766245 0.8822375 0.85 0.8368197 0.7811448 0.8067567 NA NA 0.006705617 0.1698678 0.8434098 0.7939508 NA 0.08828671 NA FALSE NA 0 0.18 rs143083635 downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 rs143083635 1 C:0.0006 C:0 C:0 NA C:0.003 C:0 C:0 AGC G,C 0.0002059 2:27602579 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003514025 intron_variant -0.013817 0.3469 0.07641 0.099367 0.3164075 0.153832 0.949147 TRUE 0.000188364 ENSE00002041308_004 ENSE00002041308 004 2 27824176 27824345 + 47 87 36 A G 27824206 582 31 GTTTCTCTGTGGAACAACCTAGCACTGAGCGGTATTTTTCCTTCTAGGAAATGTTTACTTGTCATCATTGTGGGAAACAACTTCGTTCACTGGCAGGGATGAAGTATCATGTCATGGCAAATCATAATAGTTTGGTAAGAGTGTCTTCTGTCTTTTGTGAGTGTTTGGAT 27601308 27601478 27601338 27601339 27601339 upstr_intron -17 -0.3404255 GTTTCTCTGTGGAACAACCTAGCACTGAGCGGTATTTTTCCTTCTAGGAAATGTTTACTTGTCATCATTGTGGGAAACAACTTCGTTCACTGGCAGGGATGAAGTATCATGTCATGGCAAATCATAATAGTTTGGTAAGAGTGTCTTCTGTCTTTTGTGAGTGTTTGGAT GTTTCTCTGTGGAACAACCTAGCACTGAGCAGTATTTTTCCTTCTAGGAAATGTTTACTTGTCATCATTGTGGGAAACAACTTCGTTCACTGGCAGGGATGAAGTATCATGTCATGGCAAATCATAATAGTTTGGTAAGAGTGTCTTCTGTCTTTTGTGAGTGTTTGGAT mutant NA NA NA NA NA 220 95 0.8834197 0.8997853 0.8916025 0.9755724 0.85 0.9819498 0.993773 NA NA -0.09853004 -0.09398773 0.9127862 0.9878614 NA -0.09625889 NA FALSE NA 0 -0.195 . downstream_gene_variant MODIFIER ZNF512 HGNC 29380 ENST00000461705 1 NA CAG A,G 8.236e-06 2:27601339 ZNF512 HGNC Symbol protein_coding 40246 ENSG00000243943 ENSE00003511102 intron_variant 2.092417 0.20086 0.06578 0.295142 0.8126567 0.289887 0.949147 TRUE 4.07262e-06 ENSE00002084459_001 ENSE00002084459 001 3 128875651 128875820 - 47 66 57 T C 128875663 2666 158 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTGACAAGTCTCTCA 129156807 129156977 129156819 129156820 129156820 downstr_intron 35 1.76087 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTGACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 35 231 1 1 1 NA NA 0.9434688 0.9870633 NA NA 0.05653115 0.01293668 NA 0.9652661 NA 0.03473391 NA FALSE NA 0 0.182 . intron_variant MODIFIER ISY1 HGNC 29201 ENST00000393292 4/10 1 NA TTA T,C 8.276e-06 3:129156820 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 intron_variant -0.112296 0.15822 0.07339 0.156188 0.5781681 0.0485174 0.9982907 TRUE 4.22165e-06 ENSE00002084459_004 ENSE00002084459 004 3 128875651 128875820 - 47 66 57 T C 128875667 2669 154 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGGAGTAACAAGTCTCTCA 129156807 129156977 129156823 129156824 129156824 downstr_intron 31 1.673913 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGGAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 1280 1017 1 0.999205 0.9996025 NA NA 0.9434688 0.9870633 NA NA 0.05653115 0.01214168 NA 0.9652661 NA 0.03433642 NA FALSE NA 0 0.182 . intron_variant MODIFIER ISY1 HGNC 29201 ENST00000393292 4/10 rs373846528 1 NA C:0 C:0.0001 TTC T,C 0.000149 3:129156824 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 intron_variant -0.138351 0.16036 0.05193 0.156188 0.5774157 0.0485174 0.9982907 TRUE 0.000125421 ENSE00002084459_005 ENSE00002084459 005 3 128875651 128875820 - 47 66 57 A G 128875670 2670 151 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGCAGAAGTAACAAGTCTCTCA 129156807 129156977 129156826 129156827 129156827 downstr_intron 28 1.608696 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGCAGAAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 67 306 1 1 1 NA NA 0.9434688 0.9870633 NA NA 0.05653115 0.01293668 NA 0.9652661 NA 0.03473391 NA FALSE NA 0 -0.071 . intron_variant MODIFIER ISY1 HGNC 29201 ENST00000393292 4/10 rs376768680 1 NA G:0 G:0.0001 TAC A,G 1.655e-05 3:129156827 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 intron_variant -0.034027 0.16401 0.02897 0.295142 0.4458447 0.0485174 0.9982907 TRUE 8.31843e-06 ENSE00002084459_007 ENSE00002084459 007 3 128875651 128875820 - 47 66 57 T C 128875684 2672 137 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTGAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA 129156807 129156977 129156840 129156841 129156841 downstr_intron 14 1.304348 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTGAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 843 600 0.9970786 1 0.9985393 NA NA 0.9434688 0.9870633 NA NA 0.05360976 0.01293668 NA 0.9652661 NA 0.03327322 NA FALSE NA 0 -0.21 . intron_variant MODIFIER ISY1 HGNC 29201 ENST00000393292 4/10 1 NA TTA T,C 8.276e-06 3:129156841 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 intron_variant 0.05599 0.13224 0.00152 0.295142 0.6747446 0.0490867 0.9982907 TRUE 4.12742e-06 ENSE00002084459_008 ENSE00002084459 008 3 128875651 128875820 - 47 66 57 A G 128875685 2673 136 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGCAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA 129156807 129156977 129156841 129156842 129156842 downstr_intron 13 1.282609 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGCAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 177 261 1 0.9823762 0.9911881 NA NA 0.9434688 0.9870633 NA NA 0.05653115 -0.00468712 NA 0.9652661 NA 0.02592202 NA FALSE NA 0 0.082 . intron_variant MODIFIER ISY1 HGNC 29201 ENST00000393292 4/10 rs369605829 1 NA G:0 G:0.0001 TAC A,G 4.138e-05 3:129156842 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 intron_variant 0.310405 0.15787 0.04316 0.295142 0.5490583 0.0490867 0.9982907 TRUE 4.0819e-05 ENSE00002084459_009 ENSE00002084459 009 3 128875651 128875820 - 47 66 57 T C 128875706 2674 115 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGGGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA 129156807 129156977 129156862 129156863 129156863 exon -9 0.8787879 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGGGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 39 745 1 1 1 NA NA 0.9434688 0.9870633 NA NA 0.05653115 0.01293668 NA 0.9652661 NA 0.03473391 NA FALSE NA 1 3.247 . missense_variant MODERATE ISY1 HGNC 29201 ENST00000393292 4/11 1 deleterious(0) probably_damaging(0.999) NA CTC T,C 8.276e-06 3:129156863 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 missense_variant 5.875882 0.95952 0.85969 0.706548 0.9987358 0 0.9982907 TRUE 4.0654e-06 ENSE00002084459_010 ENSE00002084459 010 3 128875651 128875820 - 47 66 57 T C 128875720 2675 101 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAGAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA 129156807 129156977 129156876 129156877 129156877 exon -23 0.6666667 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAGAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 25 19 1 1 1 NA NA 0.9434688 0.9870633 NA NA 0.05653115 0.01293668 NA 0.9652661 NA 0.03473391 NA FALSE NA 1 5.972 . missense_variant MODERATE ISY1 HGNC 29201 ENST00000393292 4/11 1 tolerated(0.21) benign(0.192) NA TTT T,C 8.276e-06 3:129156877 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 missense_variant 3.712573 0.97828 0.94234 0.706548 0.9955048 0 0.9982907 TRUE 4.06246e-06 ENSE00002084459_012 ENSE00002084459 012 3 128875651 128875820 - 47 66 57 T C 128875728 2677 93 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAGCTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA 129156807 129156977 129156884 129156885 129156885 exon -31 0.5454545 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAGCTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 888 117 1 1 1 NA NA 0.9434688 0.9870633 NA NA 0.05653115 0.01293668 NA 0.9652661 NA 0.03473391 NA FALSE NA 0.499 -0.282 . synonymous_variant LOW ISY1 HGNC 29201 ENST00000393292 4/11 1 NA GTT T,C 8.276e-06 3:129156885 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 synonymous_variant -0.422275 0.92051 0.0409 0.706548 0.3336711 0 0.9982907 TRUE 4.06197e-06 ENSE00002084459_021 ENSE00002084459 021 3 128875651 128875820 - 47 66 57 A G 128875783 2686 38 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGCGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA 129156807 129156977 129156939 129156940 129156940 upstr_intron -20 -0.3333333 ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGCGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA ATGTTGTTTGAAACTTGTAAATAGTATAATGGAAATGTGTTATTTTTTTCTCCTTAGGAACGAAGACCCTTTCTGGCCTCAGAATGTACTGAACTGCCTAAAGCTGAGAAGTGGAGACGACAGGTATGTTCTGGGTAAATCTGATTTCAGTAGAAGTAACAAGTCTCTCA mutant NA NA NA NA NA 550 594 0.8 0.991357 0.8956785 NA NA 0.9434688 0.9870633 NA NA -0.1434688 0.004293684 NA 0.9652661 NA -0.06958758 NA FALSE NA 0.001 1.003 . intron_variant MODIFIER ISY1 HGNC 29201 ENST00000393292 3/10 1 NA CAC A,G 1.655e-05 3:129156940 ISY1 HGNC Symbol protein_coding 33878 ENSG00000240682 ENSE00003606788 intron_variant -0.079896 0.15107 0.05237 0.099367 0.598033 0.0499285 0.9982907 TRUE 2.03794e-05 ENSE00002129540_001 ENSE00002129540 001 15 42701450 42701619 + 51 78 41 C T 42701460 710 11 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAAGTGCACAGGC 42409251 42409421 42409261 42409262 42409262 upstr_intron -41 -0.7843137 GCCTGTGCACTTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 345 326 1 0.9944371 0.9972186 0.9748092 0.989583 0.9449153 0.8829071 NA NA 0.05508474 0.11153 0.9821961 0.9139112 NA 0.08330739 NA FALSE NA 0 1.148 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 2/9 1 NA CCT C,T 2.471e-05 15:42409262 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 non_coding_transcript_exon_variant 0.279561 0.25037 0.15021 0.162113 0.7728845 0.0829208 9.73741e-09 FALSE 2.87102e-05 ENSE00002129540_002 ENSE00002129540 002 15 42701450 42701619 + 51 78 41 C G 42701462 711 13 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCACAGGTGCACAGGC 42409251 42409421 42409263 42409264 42409264 upstr_intron -39 -0.745098 GCCTGTGCACCTGTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 151 43 0.9952727 1 0.9976363 0.9748092 0.989583 0.9449153 0.8829071 NA NA 0.05035742 0.1170929 0.9821961 0.9139112 NA 0.08372518 NA FALSE NA 0 -0.329 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 2/9 rs372031294 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 G:0.0002 G:0 TCT C,G 1.647e-05 15:42409264 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 non_coding_transcript_exon_variant 0.17713 0.24309 0.11709 0.162113 0.6346395 0.137179 9.73741e-09 FALSE 1.2287e-05 ENSE00002129540_004 ENSE00002129540 004 15 42701450 42701619 + 51 78 41 C T 42701477 713 28 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTAGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409278 42409279 42409279 upstr_intron -24 -0.4509804 GCCTGTGCACCTCTGACCCCTGTGAACTAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant 10 59 0.85 0.85 0.85 NA NA NA NA NA 0.9748092 0.989583 0.9449153 0.8829071 -0.1248092 -0.139583 NA NA 0.9821961 0.9139112 -0.1321961 NA NA NA FALSE 0 -0.365 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 2/9 1 NA CCA C,T 8.236e-06 15:42409279 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 splice_region_variant -0.098931 0.22636 0.05272 0.162113 0.6990026 0.221139 9.73741e-09 FALSE 4.07073e-06 ENSE00002129540_005 ENSE00002129540 005 15 42701450 42701619 + 51 78 41 T A 42701480 714 31 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAATCTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409281 42409282 42409282 upstr_intron -21 -0.3921569 GCCTGTGCACCTCTGACCCCTGTGAACCAGATTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 769 53 0.9270567 0.95 0.9385284 0.9748092 0.989583 0.9449153 0.8829071 NA NA -0.01785856 0.06709294 0.9821961 0.9139112 NA 0.02461719 NA FALSE NA 0 0.106 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 2/9 rs374924566 1 NA A:0 A:0.0001 GTT T,A 8.236e-06 15:42409282 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 missense_variant 0.939034 0.34358 0.05901 0.615465 0.8157966 0 9.73741e-09 FALSE 1.2206e-05 ENSE00002129540_006 ENSE00002129540 006 15 42701450 42701619 + 51 78 41 G A 42701489 715 40 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCATAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409290 42409291 42409291 upstr_intron -12 -0.2156863 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTATGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 45 226 0.8114462 0.9820089 0.8967275 0.9748092 0.989583 0.9449153 0.8829071 NA NA -0.1334691 0.0991018 0.9821961 0.9139112 NA -0.01718363 NA FALSE NA 0 -0.006 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 2/9 rs573815612 1 A:0.0004 A:0 A:0 NA A:0 A:0 A:0.002 TGT G,A 0.0002636 15:42409291 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 missense_variant 2.393833 0.69954 0.32555 0.615465 0.9867488 0 9.73741e-09 FALSE 0.000207309 ENSE00002129540_007 ENSE00002129540 007 15 42701450 42701619 + 51 78 41 C A 42701501 716 52 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGTCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409302 42409303 42409303 exon 1 0.01282051 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGACACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 24 55 1 1 1 0.9748092 0.989583 0.9449153 0.8829071 NA NA 0.05508474 0.1170929 0.9821961 0.9139112 NA 0.08608884 NA FALSE NA 0.811 0.706 . splice_region_variant&5_prime_UTR_variant LOW CAPN3 HGNC 1480 ENST00000397204 3/10 1 NA GCC C,A 8.236e-06 15:42409303 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 missense_variant 3.857352 0.9513 0.89138 0.615465 0.9917003 0 9.73741e-09 FALSE 4.06273e-06 ENSE00002129540_009 ENSE00002129540 009 15 42701450 42701619 + 51 78 41 G A 42701531 718 82 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTTACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409332 42409333 42409333 exon 31 0.3974359 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTAAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant 10 28 0.85 0.85 0.85 NA NA NA NA NA 0.9748092 0.989583 0.9449153 0.8829071 -0.1248092 -0.139583 NA NA 0.9821961 0.9139112 -0.1321961 NA NA NA FALSE 1 9.207 . 5_prime_UTR_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 3/10 1 NA TGA G,A 8.236e-06 15:42409333 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 missense_variant 4.280014 0.9717 0.98736 0.615465 0.9980774 0 9.73741e-09 FALSE 4.0621e-06 ENSE00002129540_012 ENSE00002129540 012 15 42701450 42701619 + 51 78 41 A G 42701545 721 96 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAACTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409346 42409347 42409347 exon -34 0.5769231 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAGTTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 2249 875 0.9991736 0.965695 0.9824343 0.9748092 0.989583 0.9449153 0.8829071 NA NA 0.05425838 0.08278792 0.9821961 0.9139112 NA 0.06852315 NA FALSE NA 0.978 0.73 . 5_prime_UTR_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 3/10 1 NA AAT A,G 8.236e-06 15:42409347 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 synonymous_variant 2.018213 0.88955 0.40298 0.615465 0.8009907 0 9.73741e-09 FALSE 4.0623e-06 ENSE00002129540_013 ENSE00002129540 013 15 42701450 42701619 + 51 78 41 C T 42701548 722 99 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGAAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409349 42409350 42409350 exon -31 0.6153846 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTTCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 250 28 0.818911 0.95 0.8844555 0.9748092 0.989583 0.9449153 0.8829071 NA NA -0.1260043 0.06709294 0.9821961 0.9139112 NA -0.02945569 NA FALSE NA 1 1.623 . 5_prime_UTR_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 3/10 1 NA TCC C,T 8.236e-06 15:42409350 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 synonymous_variant 2.003748 0.93059 0.88188 0.615465 0.8477458 0 9.73741e-09 FALSE 4.06246e-06 ENSE00002129540_020 ENSE00002129540 020 15 42701450 42701619 + 51 78 41 A G 42701592 729 143 AAGGAAGCACCTGTGGGCGTCCTGGGCCTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409393 42409394 42409394 downstr_intron 14 1.35 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAGGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant 24 12 0.85 0.85 0.85 NA NA NA NA NA 0.9748092 0.989583 0.9449153 0.8829071 -0.1248092 -0.139583 NA NA 0.9821961 0.9139112 -0.1321961 NA NA NA FALSE 0 -0.556 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 3/9 1 NA AAG A,G 8.236e-06 15:42409394 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 intron_variant 0.106643 0.24342 0.06155 0.088506 0.402786 0.186295 9.73741e-09 FALSE 2.84655e-05 ENSE00002129540_023 ENSE00002129540 023 15 42701450 42701619 + 51 78 41 C T 42701601 732 152 AAGGAAGCACCTGTGGGCATCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409402 42409403 42409403 downstr_intron 23 1.575 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGATGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 251 39 0.9900851 1 0.9950426 0.9748092 0.989583 0.9449153 0.8829071 NA NA 0.04516985 0.1170929 0.9821961 0.9139112 NA 0.08113139 NA FALSE NA 0 -1.449 rs192335718 intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 3/9 rs192335718 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 ACG C,T 1.647e-05 15:42409403 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 intron_variant -0.070558 0.20844 0.05926 0.088506 0.4771778 0.18622 9.73741e-09 FALSE 1.62901e-05 ENSE00002129540_025 ENSE00002129540 025 15 42701450 42701619 + 51 78 41 C T 42701603 734 154 AAGGAAGCACCTGTGGACGTCCTGGGCTTGGAGGTACTCACATCTCCTGCTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409404 42409405 42409405 downstr_intron 25 1.625 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGTCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 333 64 0.9961048 1 0.9980524 0.9748092 0.989583 0.9449153 0.8829071 NA NA 0.05118949 0.1170929 0.9821961 0.9139112 NA 0.08414121 NA FALSE NA 0 0.27 . intron_variant MODIFIER CAPN3 HGNC 1480 ENST00000397204 3/9 rs369987968 1 NA T:0.0002 T:0 GCC C,T 3.295e-05 15:42409405 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 intron_variant 0.302593 0.27358 0.08212 0.088506 0.478389 0.253343 9.73741e-09 FALSE 2.44571e-05 ENSE00002162551_002 ENSE00002162551 002 11 44939470 44939639 + 53 75 42 T C 44939492 1089 23 GCCCCATCCCCTGCCTGCCCTCCGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44917940 44917941 44917941 upstr_intron -31 -0.5660377 GCCCCATCCCCTGCCTGCCCTCCGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant NA NA NA NA NA 334 318 0.9968783 0.9606193 0.9787488 0.976143 0.9646678 0.9735502 0.8824622 NA NA 0.02332817 0.07815707 0.9704054 0.9280062 NA 0.05074262 NA FALSE NA 0 -1.458 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 1/5 1 NA CTG T,C 8.236e-06 11:44917941 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 non_coding_transcript_exon_variant 0.070174 0.13769 0.00954 0.099367 0.5977083 0.0666035 0.1618604 FALSE 4.06683e-06 ENSE00002162551_004 ENSE00002162551 004 11 44939470 44939639 + 53 75 42 A G 44939502 1091 33 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAGGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44917950 44917951 44917951 upstr_intron -21 -0.3773585 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAGGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant 21 33 0.85 0.85 0.85 62 143 0.8 0.8 0.8 0.976143 0.9646678 0.9735502 0.8824622 -0.126143 -0.1146678 -0.1735502 -0.08246223 0.9704054 0.9280062 -0.1204054 -0.1280062 0.00760076 FALSE FALSE 0 -1.428 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 1/5 1 NA AAG A,G 5.765e-05 11:44917951 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 non_coding_transcript_exon_variant 0.145466 0.20638 0.03056 0.099367 0.3300904 0.112 0.1618604 FALSE 5.28275e-05 ENSE00002162551_010 ENSE00002162551 010 11 44939470 44939639 + 53 75 42 C A 44939515 1097 46 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTACCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44917963 44917964 44917964 upstr_intron -8 -0.1320755 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTACCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant 35 27 0.85 0.85 0.85 NA NA NA NA NA 0.976143 0.9646678 0.9735502 0.8824622 -0.126143 -0.1146678 NA NA 0.9704054 0.9280062 -0.1204054 NA NA NA FALSE 0.742 1.097 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 1/5 1 NA TCC C,A 1.647e-05 11:44917964 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 splice_region_variant 1.603518 0.77901 0.86343 0.099367 0.8295548 0.244126 0.1618604 FALSE 8.12453e-06 ENSE00002162551_011 ENSE00002162551 011 11 44939470 44939639 + 53 75 42 C T 44939517 1098 48 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCTTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44917965 44917966 44917966 upstr_intron -6 -0.09433962 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCTTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant NA NA NA NA NA 53 41 1 1 1 0.976143 0.9646678 0.9735502 0.8824622 NA NA 0.02644985 0.1175378 0.9704054 0.9280062 NA 0.07199381 NA FALSE NA 0.827 1.225 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 1/5 1 NA CCT C,T 8.236e-06 11:44917966 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 splice_region_variant 1.360838 0.38389 0.15738 0.162113 0.8359323 0.253605 0.1618604 FALSE 4.0623e-06 ENSE00002162551_012 ENSE00002162551 012 11 44939470 44939639 + 53 75 42 T G 44939526 1099 57 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCGTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44917974 44917975 44917975 exon 4 0.05333333 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCGTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant NA NA NA NA NA 95 19 1 1 1 0.976143 0.9646678 0.9735502 0.8824622 NA NA 0.02644985 0.1175378 0.9704054 0.9280062 NA 0.07199381 NA FALSE NA 1 8.042 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 1/5 rs376320762 1 NA G:0 G:0.0001 CTT T,G 8.236e-06 11:44917975 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 missense_variant 6.387911 0.99364 0.98969 0.706298 0.9908269 0 0.1618604 FALSE 1.2185e-05 ENSE00002162551_016 ENSE00002162551 016 11 44939470 44939639 + 53 75 42 A G 44939571 1103 102 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCGTCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44918019 44918020 44918020 exon -27 0.6533333 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCGTCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant NA NA NA NA NA 79 33 0.9119925 1 0.9559963 0.976143 0.9646678 0.9735502 0.8824622 NA NA -0.06155762 0.1175378 0.9704054 0.9280062 NA 0.02799008 NA FALSE NA 1 5.416 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 1/5 rs369062337 1 NA G:0 G:0.0001 CAT A,G 3.295e-05 11:44918020 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 missense_variant 1.939104 0.9855 0.94801 0.706298 0.9783938 0 0.1618604 FALSE 4.46798e-05 ENSE00002162551_018 ENSE00002162551 018 11 44939470 44939639 + 53 75 42 A T 44939600 1105 131 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTTCGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44918048 44918049 44918049 downstr_intron 3 1.073171 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTTCGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant 31 21 0 0 0 NA NA NA NA NA 0.976143 0.9646678 0.9735502 0.8824622 -0.976143 -0.9646678 NA NA 0.9704054 0.9280062 -0.9704054 NA NA NA TRUE 1 4.952 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TSPAN18 HGNC 20660 ENST00000520245 1/4 1 NA TAC A,T 1.647e-05 11:44918049 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 splice_region_variant 1.030582 0.98554 0.94724 0.099367 0.8979742 0.852143 0.1618604 FALSE 8.13015e-06 ENSE00002162551_019 ENSE00002162551 019 11 44939470 44939639 + 53 75 42 C T 44939601 1106 132 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTATGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44918049 44918050 44918050 downstr_intron 4 1.097561 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTATGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant NA NA NA NA NA 219 129 0.8117089 0.820252 0.8159804 0.976143 0.9646678 0.9735502 0.8824622 NA NA -0.1618412 -0.06221025 0.9704054 0.9280062 NA -0.1120257 NA FALSE NA 0.945 -0.021 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TSPAN18 HGNC 20660 ENST00000520245 1/4 1 NA ACG C,T 2.471e-05 11:44918050 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 splice_region_variant 0.908477 0.97239 0.64988 0.099367 0.3931603 0.285059 0.1618604 FALSE 1.62665e-05 ENSE00002162551_023 ENSE00002162551 023 11 44939470 44939639 + 53 75 42 C T 44939621 1110 152 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTTCTGCCTCCTGCTATCAGC 44917918 44918088 44918069 44918070 44918070 downstr_intron 24 1.585366 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTTCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant 16 12 0.9588335 0.9783678 0.9686006 14 119 1 0.8876943 0.9438472 0.976143 0.9646678 0.9735502 0.8824622 -0.01730957 0.01369994 0.02644985 0.005232117 0.9704054 0.9280062 -0.001804818 0.01584098 0.0176458 FALSE FALSE 0 -0.01 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN18 HGNC 20660 ENST00000520245 1/4 rs199651174 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TCC C,T 7.413e-05 11:44918070 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 intron_variant 0.199409 0.17361 0.02958 0.099367 0.3671057 0.0862078 0.1618604 FALSE 4.07764e-05 ENSE00002217270_004 ENSE00002217270 004 19 45185776 45185945 + 63 54 53 G A 45185806 2611 31 GGCTCCTGGATCCGTGGGATCCCCACCACCCCTCCCAGCTCCCAGCTCCATACCTGGTACTGGTGGTTCTCTGGCTCCGCCTGCAGGTGTGGGGGTGTGGGCAGGGGCTGCAAGGGAAGGACACGGGTGAGTGGGCGCTTGGCACCCCCCACCCTCTAAACTTTGACCTT 44682503 44682673 44682533 44682534 44682534 upstr_intron -33 -0.5079365 AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCAAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC mutant NA NA NA NA NA 12 283 1 0.997957 0.9989785 0.9986612 0.9967657 0.9855866 0.8918516 NA NA 0.01441341 0.1061054 0.9977134 0.9387191 NA 0.06025941 NA FALSE NA 0 -0.961 . intron_variant&non_coding_transcript_variant MODIFIER CEACAM19 HGNC 31951 ENST00000459648 3/3 rs369056383 1 NA A:0 A:0.0002 CGA G,A 0.0004404 19:44682534 CEACAM19 HGNC Symbol protein_coding 22081 ENSG00000186567 ENSE00003657264 intron_variant -0.397586 0.08662 0.02359 0.106106 0.5340965 0.0481382 5.776509e-07 FALSE 0.000690491 ENSE00002217270_018 ENSE00002217270 018 19 45185776 45185945 + 63 54 53 G C 45185907 2625 132 GGCTCCTGGATCCGTGGGATCCCCACCACCCCTCCCAGGTCCCAGCTCCATACCTGGTACTGGTGGTTCTCTGGCTCCGCCTGCAGGTGTGGGGGTGTGGGCAGGGGCTGCAAGGGAAGGACACGGGTGAGTGGGCGCTCGGCACCCCCCACCCTCTAAACTTTGACCTT 44682503 44682673 44682634 44682635 44682635 downstr_intron 15 1.288462 AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGACCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC mutant NA NA NA NA NA 395 195 1 0.9850573 0.9925287 0.9986612 0.9967657 0.9855866 0.8918516 NA NA 0.01441341 0.09320576 0.9977134 0.9387191 NA 0.05380959 NA FALSE NA 0.007 0.2 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CEACAM19 HGNC 31951 ENST00000459648 4/4 1 NA AGC G,C 8.276e-06 19:44682635 CEACAM19 HGNC Symbol protein_coding 22081 ENSG00000186567 ENSE00003657264 non_coding_transcript_exon_variant -0.216292 0.13969 0.06371 0.088506 0.4874152 0.0475762 5.776509e-07 FALSE NA ENSE00002217270_020 ENSE00002217270 020 19 45185776 45185945 + 63 54 53 C T 45185928 2627 153 GGCTCCTGGATCCGTGGAATCCCCACCACCCCTCCCAGCTCCCAGCTCCATACCTGGTACTGGTGGTTCTCTGGCTCCGCCTGCAGGTGTGGGGGTGTGGGCAGGGGCTGCAAGGGAAGGACACGGGTGAGTGGGCGCTCGGCACCCCCCACCCTCTAAACTTTGACCTT 44682503 44682673 44682655 44682656 44682656 downstr_intron 36 1.692308 AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATTCCACGGATCCAGGAGCC AAGGTCAAAGTTTAGAGGGTGGGGGGTGCCGAGCGCCCACTCACCCGTGTCCTTCCCTTGCAGCCCCTGCCCACACCCCCACACCTGCAGGCGGAGCCAGAGAACCACCAGTACCAGGTATGGAGCTGGGAGCTGGGAGGGGTGGTGGGGATCCCACGGATCCAGGAGCC mutant NA NA NA NA NA 49 83 1 1 1 0.9986612 0.9967657 0.9855866 0.8918516 NA NA 0.01441341 0.1081484 0.9977134 0.9387191 NA 0.06128091 NA FALSE NA 0 -0.697 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER CEACAM19 HGNC 31951 ENST00000459648 4/4 1 NA TCC C,T 8.322e-06 19:44682656 CEACAM19 HGNC Symbol protein_coding 22081 ENSG00000186567 ENSE00003657264 non_coding_transcript_exon_variant 0.206018 0.12675 0.04085 0.088506 0.634599 0.0475762 5.776509e-07 FALSE NA ENSE00002277287_001 ENSE00002277287 001 19 49979339 49979508 + 63 54 53 C G 49979349 2951 11 TGGGTCCCCAGAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 49476091 49476092 49476092 upstr_intron -53 -0.8253968 TGGGTCCCCAGAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA mutant NA NA NA NA NA 77 1033 0.9972967 0.9992226 0.9982596 NA NA 1 0.9965532 NA NA -0.002703349 0.002669372 NA 0.9982766 NA -1.698803e-05 NA FALSE NA 0 -0.486 . intron_variant MODIFIER FLT3LG HGNC 3766 ENST00000600429 3/8 1 NA ACA C,G 1.647e-05 19:49476092 FLT3LG HGNC Symbol protein_coding 12024 ENSG00000090554 ENSE00003564652 intron_variant 0.005894 0.21839 0.03965 0.183328 0.571115 0.14454 0.9508287 TRUE 1.22044e-05 ENSE00002277287_002 ENSE00002277287 002 19 49979339 49979508 + 63 54 53 A G 49979350 2952 12 TGGGTCCCCACGGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 49476092 49476093 49476093 upstr_intron -52 -0.8095238 TGGGTCCCCACGGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA mutant NA NA NA NA NA 19 22 1 1 1 NA NA 1 0.9965532 NA NA 0 0.003446807 NA 0.9982766 NA 0.001723403 NA FALSE NA 0 1.069 . intron_variant MODIFIER FLT3LG HGNC 3766 ENST00000600429 3/8 1 NA CAG A,G 2.471e-05 19:49476093 FLT3LG HGNC Symbol protein_coding 12024 ENSG00000090554 ENSE00003564652 intron_variant -0.319177 0.23173 0.09003 0.183328 0.6621872 0.152294 0.9508287 TRUE 2.03359e-05 ENSE00002277287_005 ENSE00002277287 005 19 49979339 49979508 + 63 54 53 G A 49979363 2955 25 TGGGTCCCCACAGTTCTGTTTCTCACTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 49476105 49476106 49476106 upstr_intron -39 -0.6031746 TGGGTCCCCACAGTTCTGTTTCTCACTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA mutant NA NA NA NA NA 311 116 0.9958243 1 0.9979121 NA NA 1 0.9965532 NA NA -0.004175738 0.003446807 NA 0.9982766 NA -0.0003644659 NA FALSE NA 0 -0.169 . intron_variant MODIFIER FLT3LG HGNC 3766 ENST00000600429 3/8 1 NA CGC G,A 8.236e-06 19:49476106 FLT3LG HGNC Symbol protein_coding 12024 ENSG00000090554 ENSE00003564652 intron_variant 0.309515 0.256 0.05213 0.183328 0.6421522 0.166974 0.9508287 TRUE NA ENSE00002277287_008 ENSE00002277287 008 19 49979339 49979508 + 63 54 53 C T 49979385 2958 47 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATTCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 49476127 49476128 49476128 upstr_intron -17 -0.2539683 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATTCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA mutant NA NA NA NA NA 261 116 1 0.9830845 0.9915422 NA NA 1 0.9965532 NA NA 0 -0.01346873 NA 0.9982766 NA -0.006734365 NA FALSE NA 0 -0.346 . intron_variant MODIFIER FLT3LG HGNC 3766 ENST00000600429 3/8 1 NA TCC C,T 8.236e-06 19:49476128 FLT3LG HGNC Symbol protein_coding 12024 ENSG00000090554 ENSE00003564652 synonymous_variant 0.054014 0.23285 0.04892 0.656854 0.7477927 0 0.9508287 TRUE 4.06336e-06 ENSE00002277287_015 ENSE00002277287 015 19 49979339 49979508 + 63 54 53 G A 49979435 2965 97 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCATGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 49476177 49476178 49476178 exon -21 0.6296296 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCATGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA mutant NA NA NA NA NA 108 90 1 1 1 NA NA 1 0.9965532 NA NA 0 0.003446807 NA 0.9982766 NA 0.001723403 NA FALSE NA 0.042 1.303 . missense_variant MODERATE FLT3LG HGNC 3766 ENST00000600429 4/9 rs367551792&COSM3835381 1 tolerated(0.11) possibly_damaging(0.883) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0 A:0.0001 CGT G,A 1.647e-05 19:49476178 FLT3LG HGNC Symbol protein_coding 12024 ENSG00000090554 ENSE00003564652 missense_variant 4.095218 0.41062 0.36254 0.653496 0.9979044 0 0.9508287 TRUE 1.22048e-05 ENSE00002277287_016 ENSE00002277287 016 19 49979339 49979508 + 63 54 53 T G 49979448 2966 110 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCGGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 49476190 49476191 49476191 exon -8 0.8703704 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCGGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA mutant NA NA NA NA NA 281 39 1 1 1 NA NA 1 0.9965532 NA NA 0 0.003446807 NA 0.9982766 NA 0.001723403 NA FALSE NA 1 3.597 . missense_variant MODERATE FLT3LG HGNC 3766 ENST00000600429 4/9 1 deleterious(0) probably_damaging(0.995) NA CTG T,G 8.236e-06 19:49476191 FLT3LG HGNC Symbol protein_coding 12024 ENSG00000090554 ENSE00003564652 missense_variant 5.82012 0.94928 0.83146 0.653496 0.9969925 0 0.9508287 TRUE 4.06997e-06 ENSE00002277287_017 ENSE00002277287 017 19 49979339 49979508 + 63 54 53 G A 49979449 2967 111 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTACAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA 49476081 49476251 49476191 49476192 49476192 exon -7 0.8888889 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTACAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA mutant NA NA NA NA NA 362 21 0.9843456 1 0.9921728 NA NA 1 0.9965532 NA NA -0.01565443 0.003446807 NA 0.9982766 NA -0.006103813 NA FALSE NA 0.995 0.174 . synonymous_variant LOW FLT3LG HGNC 3766 ENST00000600429 4/9 1 NA TGC G,A 8.236e-06 19:49476192 FLT3LG HGNC Symbol protein_coding 12024 ENSG00000090554 ENSE00003564652 synonymous_variant 1.347524 0.91912 0.46683 0.653496 0.7743466 0 0.9508287 TRUE NA ENSE00002277287_026 ENSE00002277287 026 19 49979339 49979508 + 63 54 53 T C 49979489 2976 151 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGCGGGGACCACAGACTCAAGA 49476081 49476251 49476231 49476232 49476232 downstr_intron 34 1.653846 TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGCGGGGACCACAGACTCAAGA TGGGTCCCCACAGTTCTGTTTCTCGCTGTTTTCAGCCAGGCCTGATCCTGTTTTCTCCCGCAGTCTGACTACCTGCTTCAAGATTACCCAGTCACCGTGGCCTCCAACCTGCAGGACGTAAGTCATGTTGGGAGGGACCTGGGATGGAGGTGGGGACCACAGACTCAAGA mutant NA NA NA NA NA 60 398 0.9986201 0.9998085 0.9992143 NA NA 1 0.9965532 NA NA -0.001379913 0.003255337 NA 0.9982766 NA 0.0009377119 NA FALSE NA 0.599 0.462 . intron_variant MODIFIER FLT3LG HGNC 3766 ENST00000600429 4/8 1 NA GTG T,C 8.236e-06 19:49476232 FLT3LG HGNC Symbol protein_coding 12024 ENSG00000090554 ENSE00003564652 intron_variant 1.785088 0.91781 0.27621 0.163419 0.8730382 0.35966 0.9508287 TRUE 4.11313e-06 ENSE00002282659_008 ENSE00002282659 008 16 89805257 89805426 - 33 93 44 G A 89805294 3469 133 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGTAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738885 89738886 89738886 exon -5 0.9569892 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGTAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 272 146 0.9545002 1 0.9772501 NA NA 0.957122 0.9955168 NA NA -0.002621795 0.004483163 NA 0.9763194 NA 0.0009306836 NA FALSE NA 0 -0.363 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 1 NA TGC G,A 8.236e-06 16:89738886 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant 0.670301 0.25891 0.4013 0.67177 0.9541426 0 0.0002572748 FALSE 4.06075e-06 ENSE00002282659_013 ENSE00002282659 013 16 89805257 89805426 - 33 93 44 T A 89805300 3474 127 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACTCGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738891 89738892 89738892 exon -11 0.8924731 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACTCGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 98 178 1 1 1 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004483163 NA 0.9763194 NA 0.02368058 NA FALSE NA 0 0.323 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 rs564148401 1 A:0.0002 A:0 A:0 NA A:0 A:0 A:0.001 GTG T,A 8.236e-06 16:89738892 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant 0.45442 0.28561 0.54173 0.67177 0.9122041 0 0.0002572748 FALSE 4.06065e-06 ENSE00002282659_019 ENSE00002282659 019 16 89805257 89805426 - 33 93 44 C G 89805311 3480 116 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAACAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738902 89738903 89738903 exon -22 0.7741935 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAACAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 358 350 0.9943055 0.9977952 0.9960504 NA NA 0.957122 0.9955168 NA NA 0.0371835 0.002278403 NA 0.9763194 NA 0.01973095 NA FALSE NA 0.035 0.219 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 1 NA TCT C,G 8.236e-06 16:89738903 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant 3.253425 0.67866 0.69382 0.67177 0.9983872 0 0.0002572748 FALSE 4.06078e-06 ENSE00002282659_022 ENSE00002282659 022 16 89805257 89805426 - 33 93 44 C T 89805317 3483 110 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCAAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738908 89738909 89738909 exon -28 0.7096774 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCAAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 64 387 1 0.9995911 0.9997956 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004074281 NA 0.9763194 NA 0.02347614 NA FALSE NA 0 -5.361 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 rs368985041 1 NA T:0.0002 T:0 TCG C,T 3.295e-05 16:89738909 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant 1.693774 0.14667 0.06145 0.67177 0.797301 0 0.0002572748 FALSE 4.06072e-05 ENSE00002282659_023 ENSE00002282659 023 16 89805257 89805426 - 33 93 44 G A 89805318 3484 109 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCTGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738909 89738910 89738910 exon -29 0.6989247 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCTGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 104 293 0.9985232 0.9912639 0.9948936 NA NA 0.957122 0.9955168 NA NA 0.04140125 -0.004252921 NA 0.9763194 NA 0.01857416 NA FALSE NA 0.976 2.946 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 rs201494304 1 A:0.0002 A:0 A:0 NA A:0.001 A:0 A:0 CGG G,A 0.0001318 16:89738910 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant 6.038887 0.72731 0.93962 0.67177 0.9977737 0 0.0002572748 FALSE 0.000101515 ENSE00002282659_028 ENSE00002282659 028 16 89805257 89805426 - 33 93 44 T A 89805332 3489 95 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTTATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738923 89738924 89738924 exon -43 0.5483871 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTTATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 127 45 1 1 1 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004483163 NA 0.9763194 NA 0.02368058 NA FALSE NA 0 -0.762 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 1 NA TTA T,A 8.236e-06 16:89738924 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant 0.942394 0.21987 0.51073 0.67177 0.991936 0 0.0002572748 FALSE 1.62422e-05 ENSE00002282659_033 ENSE00002282659 033 16 89805257 89805426 - 33 93 44 G A 89805352 3494 75 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTTGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738943 89738944 89738944 exon 31 0.3333333 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTTGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 746 48 0.9999448 1 0.9999724 NA NA 0.957122 0.9955168 NA NA 0.04282283 0.004483163 NA 0.9763194 NA 0.02365299 NA FALSE NA 0.132 2.096 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 FANCA:c.4198C>T&CM050616 1 NA CGA G,A 1.647e-05 16:89738944 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant 5.416343 0.78151 0.75141 0.67177 0.9991825 0 0.0002572748 FALSE 1.21817e-05 ENSE00002282659_034 ENSE00002282659 034 16 89805257 89805426 - 33 93 44 C G 89805365 3495 62 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTCATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738956 89738957 89738957 exon 18 0.1935484 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTCATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 243 22 0.9981221 1 0.999061 NA NA 0.957122 0.9955168 NA NA 0.04100006 0.004483163 NA 0.9763194 NA 0.02274161 NA FALSE NA 0.001 0.622 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 rs558672797 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TCA C,G 8.236e-06 16:89738957 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant 0.430467 0.45363 0.76634 0.67177 0.9882558 0 0.0002572748 FALSE 4.06058e-06 ENSE00002282659_035 ENSE00002282659 035 16 89805257 89805426 - 33 93 44 G A 89805367 3496 60 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAATTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738958 89738959 89738959 exon 16 0.172043 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAATTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 170 152 0.9990974 1 0.9995487 NA NA 0.957122 0.9955168 NA NA 0.04197537 0.004483163 NA 0.9763194 NA 0.02322926 NA FALSE NA 0 -0.033 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 1 NA AGT G,A 8.236e-06 16:89738959 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 missense_variant -0.389163 0.23552 0.36185 0.67177 0.7248335 0 0.0002572748 FALSE 1.21818e-05 ENSE00002282659_044 ENSE00002282659 044 16 89805257 89805426 - 33 93 44 G T 89805386 3505 41 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTATAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738977 89738978 89738978 upstr_intron -4 -0.06818182 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTATAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 151 73 0.9812096 1 0.9906048 NA NA 0.957122 0.9955168 NA NA 0.02408756 0.004483163 NA 0.9763194 NA 0.01428536 NA FALSE NA 0.002 0.114 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 1 NA AGA G,T 2.471e-05 16:89738978 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 splice_region_variant -0.095834 0.3038 0.57627 0.256867 0.7327252 0.264536 0.0002572748 FALSE 2.03056e-05 ENSE00002282659_046 ENSE00002282659 046 16 89805257 89805426 - 33 93 44 A G 89805389 3507 38 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCCCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738980 89738981 89738981 upstr_intron -7 -0.1363636 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCCCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 93 1219 1 0.9981793 0.9990896 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.002662444 NA 0.9763194 NA 0.02277022 NA FALSE NA 0 -0.137 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 1 NA GAG A,G 8.236e-06 16:89738981 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 splice_region_variant -0.267168 0.26763 0.3105 0.256867 0.5878093 0.276643 0.0002572748 FALSE 8.12183e-06 ENSE00002282659_050 ENSE00002282659 050 16 89805257 89805426 - 33 93 44 A C 89805401 3511 26 TCTGTATGTCTTCTAACCTGTGAGTGTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738992 89738993 89738993 upstr_intron -19 -0.4090909 TCTGTATGTCTTCTAACCTGTGAGTGTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 437 178 0.9992442 1 0.9996221 NA NA 0.957122 0.9955168 NA NA 0.04212218 0.004483163 NA 0.9763194 NA 0.02330267 NA FALSE NA 0.001 -0.082 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ZNF276 HGNC 23330 ENST00000563983 10/10 1 NA AAA A,C 8.237e-06 16:89738993 ZNF276 HGNC Symbol protein_coding 20503 ENSG00000158805 ENSE00003672662 3_prime_UTR_variant -0.248243 0.26026 0.21821 0.283894 0.4220493 0.0959715 0.0002572748 FALSE 4.06108e-06 ENSE00002311500_001 ENSE00002311500 001 19 49860461 49860630 - 48 63 59 C G 49860480 2931 151 CACCCCCAGTCTCTGTCCCGCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357222 49357223 49357223 downstr_intron 29 1.617021 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGCGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 124 553 0.7830124 0.8004571 0.7917348 0.847275 0.8388698 0.7926735 0.595461 NA NA -0.009661175 0.2049961 0.8430724 0.6940673 NA 0.09766748 NA FALSE NA 0 -0.846 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 4/11 rs199961449 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 CCC C,G 9.884e-05 19:49357223 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 1.336805 0.13145 0.03861 0.069865 0.7008753 0.0609323 0.002047317 FALSE 9.40441e-05 ENSE00002311500_002 ENSE00002311500 002 19 49860461 49860630 - 48 63 59 T G 49860482 2932 149 CACCCCCAGTCTCTGTCCCCCGCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357224 49357225 49357225 downstr_intron 27 1.574468 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGCGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 193 111 0.9116646 0.7914167 0.8515406 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.118991 0.1959557 0.8430724 0.6940673 NA 0.1574734 NA FALSE NA 0 -0.234 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 4/11 1 NA CTC T,G 1.647e-05 19:49357225 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 1.277653 0.102 0.05772 0.069865 0.7352945 0.0609323 0.002047317 FALSE 2.04268e-05 ENSE00002311500_003 ENSE00002311500 003 19 49860461 49860630 - 48 63 59 C G 49860485 2933 146 CACCCCCAGTCTCTGTCCCCCTCTGAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357227 49357228 49357228 downstr_intron 24 1.510638 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTCAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 392 213 0.8 0.8 0.8 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.007326453 0.204539 0.8430724 0.6940673 NA 0.1059327 NA FALSE NA 0.02 -0.234 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 4/11 1 NA TCA C,G 8.237e-06 19:49357228 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.945685 0.19246 0.11723 0.115753 0.7698989 0.0609323 0.002047317 FALSE 4.08e-06 ENSE00002311500_004 ENSE00002311500 004 19 49860461 49860630 - 48 63 59 A G 49860489 2934 142 CACCCCCAGTCTCTGTCCCCCTCTCAGGGTGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357231 49357232 49357232 downstr_intron 20 1.425532 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACACCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 240 54 0.8 0.8 0.8 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.007326453 0.204539 0.8430724 0.6940673 NA 0.1059327 NA FALSE NA 0.017 -0.118 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 4/11 rs199908525 1 G:0.0012 G:0 G:0 NA G:0 G:0 G:0.0061 G:0.0002 G:0 GAT A,G 0.0004613 19:49357232 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.86687 0.07639 0.00026 0.115753 0.7037168 0.0609323 0.002047317 FALSE 0.000476804 ENSE00002311500_005 ENSE00002311500 005 19 49860461 49860630 - 48 63 59 T A 49860492 2935 139 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGACTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357234 49357235 49357235 downstr_intron 17 1.361702 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGTCATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 218 426 0.8363389 0.862721 0.8495299 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.04366535 0.26726 0.8430724 0.6940673 NA 0.1554627 NA FALSE NA 0 -0.176 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 4/11 rs34600086 1 -:0.0080 -:0 -:0.0101 NA -:0.0317 -:0 -:0.001 -:0.0002 -:0.0001 GTC T,A 8.297e-06 19:49357235 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.813671 0.20852 0.08912 0.069865 0.7727463 0.0609323 0.002047317 FALSE 4.07176e-06 ENSE00002311500_006 ENSE00002311500 006 19 49860461 49860630 - 48 63 59 G A 49860495 2936 136 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTACATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357237 49357238 49357238 downstr_intron 14 1.297872 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGTAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 1592 824 0.7018028 0.858013 0.7799079 0.847275 0.8388698 0.7926735 0.595461 NA NA -0.09087074 0.262552 0.8430724 0.6940673 NA 0.08584064 NA FALSE NA 0 -0.118 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 4/11 1 NA TGC G,A 8.236e-06 19:49357238 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.621025 0.18661 0.07086 0.069865 0.6390252 0.107282 0.002047317 FALSE 4.06974e-06 ENSE00002311500_007 ENSE00002311500 007 19 49860461 49860630 - 48 63 59 G C 49860500 2937 131 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTCGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357242 49357243 49357243 downstr_intron 9 1.191489 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACGAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 523 616 0.9243273 0.8821728 0.9032501 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.1316538 0.2867118 0.8430724 0.6940673 NA 0.2091828 NA FALSE NA 0 -0.032 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 4/11 1 NA TGG G,C 8.236e-06 19:49357243 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.974541 0.21435 0.10635 0.069865 0.6489812 0.258583 0.002047317 FALSE 4.06759e-06 ENSE00002311500_010 ENSE00002311500 010 19 49860461 49860630 - 48 63 59 C T 49860515 2940 116 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAATTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357257 49357258 49357258 exon -7 0.9047619 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAATTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 168 3854 0.8180719 0.8175899 0.8178309 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.02539835 0.2221289 0.8430724 0.6940673 NA 0.1237636 NA FALSE NA 0.999 0.685 . synonymous_variant LOW TEAD2 HGNC 11715 ENST00000311227 4/12 1 NA ACT C,T 8.236e-06 19:49357258 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 synonymous_variant 1.995055 0.97149 0.90746 0.722319 0.6002071 0 0.002047317 FALSE NA ENSE00002311500_012 ENSE00002311500 012 19 49860461 49860630 - 48 63 59 C T 49860540 2942 91 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCTTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357282 49357283 49357283 exon -32 0.5079365 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAAGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 105 96 0.6888429 0.8 0.7444215 0.847275 0.8388698 0.7926735 0.595461 NA NA -0.1038306 0.204539 0.8430724 0.6940673 NA 0.0503542 NA FALSE NA 1 7.024 . missense_variant MODERATE TEAD2 HGNC 11715 ENST00000311227 4/12 1 tolerated(0.47) benign(0.28) NA CCT C,T 8.236e-06 19:49357283 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 missense_variant 4.234054 0.98581 0.99293 0.722319 0.9788278 0 0.002047317 FALSE 4.06223e-06 ENSE00002311500_013 ENSE00002311500 013 19 49860461 49860630 - 48 63 59 G C 49860556 2943 75 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTCGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357298 49357299 49357299 exon 16 0.2539683 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCGAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 351 157 0.9713804 0.9710725 0.9712265 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.1787069 0.3756115 0.8430724 0.6940673 NA 0.2771592 NA FALSE NA 1 8.844 . missense_variant MODERATE TEAD2 HGNC 11715 ENST00000311227 4/12 1 deleterious(0) probably_damaging(0.919) NA TGG G,C 8.236e-06 19:49357299 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 missense_variant 5.40178 0.99168 0.99701 0.722319 0.9954907 0 0.002047317 FALSE 4.06345e-06 ENSE00002311500_014 ENSE00002311500 014 19 49860461 49860630 - 48 63 59 G T 49860578 2944 53 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAATGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357320 49357321 49357321 upstr_intron -7 -0.1016949 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCATTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 125 77 0.8 0.8862669 0.8431335 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.007326453 0.2908059 0.8430724 0.6940673 NA 0.1490662 NA FALSE NA 0.073 0.283 . splice_region_variant&intron_variant LOW TEAD2 HGNC 11715 ENST00000311227 3/11 rs377760250 1 NA T:0.0002 T:0 AGG G,T 8.236e-06 19:49357321 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 splice_region_variant 1.151743 0.95862 0.12814 0.069865 0.7891759 0.481773 0.002047317 FALSE 4.07034e-06 ENSE00002311500_015 ENSE00002311500 015 19 49860461 49860630 - 48 63 59 C T 49860585 2945 46 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAATGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357327 49357328 49357328 upstr_intron -14 -0.220339 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCATTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 217 578 0.8 0.6467439 0.723372 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.007326453 0.05128293 0.8430724 0.6940673 NA 0.02930469 NA FALSE NA 0 -1.336 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 3/11 1 NA ACG C,T 8.237e-06 19:49357328 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.510322 0.18395 0.04168 0.069865 0.6537214 0.16655 0.002047317 FALSE 8.15514e-06 ENSE00002311500_016 ENSE00002311500 016 19 49860461 49860630 - 48 63 59 G A 49860586 2946 45 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACAGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357328 49357329 49357329 upstr_intron -15 -0.2372881 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCTGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 561 1882 0.9441598 0.9495117 0.9468357 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.1514862 0.3540507 0.8430724 0.6940673 NA 0.2527685 NA FALSE NA 0 -0.607 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 3/11 rs370853855 1 A:0.0006 A:0.0023 A:0 NA A:0 A:0 A:0 A:0.0007 A:0 CGG G,A 4.118e-05 19:49357329 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.630415 0.14879 0.00378 0.069865 0.610358 0.234827 0.002047317 FALSE 2.855e-05 ENSE00002311500_018 ENSE00002311500 018 19 49860461 49860630 - 48 63 59 G T 49860595 2948 36 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCATATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357337 49357338 49357338 upstr_intron -24 -0.3898305 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATATGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 1989 650 0.8019426 0.8435129 0.8227277 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.009269029 0.2480519 0.8430724 0.6940673 NA 0.1286605 NA FALSE NA 0.083 1.864 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 3/11 rs559126913 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 AGA G,T 7.413e-05 19:49357338 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.317153 0.19271 0.26573 0.069865 0.7184098 0.181433 0.002047317 FALSE 8.18103e-05 ENSE00002311500_019 ENSE00002311500 019 19 49860461 49860630 - 48 63 59 C A 49860604 2949 27 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCAACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357346 49357347 49357347 upstr_intron -33 -0.5423729 GTAGTGAACACAGGGGCGGTGGCTGTTGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 505 204 0.8233578 0.8350556 0.8292067 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.03068425 0.2395946 0.8430724 0.6940673 NA 0.1351394 NA FALSE NA 0.001 1.439 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 3/11 1 NA CCA C,A 3.295e-05 19:49357347 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.67155 0.56393 0.25187 0.069865 0.6577505 0.0878282 0.002047317 FALSE 3.71465e-05 ENSE00002311500_020 ENSE00002311500 020 19 49860461 49860630 - 48 63 59 G A 49860614 2950 17 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCCCTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCACCCCTGTGTTCACTAC 49357203 49357373 49357356 49357357 49357357 upstr_intron -43 -0.7118644 GTAGTGAACACAGGGGTGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 10 684 0.8 0.8585645 0.8292822 0.847275 0.8388698 0.7926735 0.595461 NA NA 0.007326453 0.2631035 0.8430724 0.6940673 NA 0.135215 NA FALSE NA 0 -0.828 . intron_variant MODIFIER TEAD2 HGNC 11715 ENST00000311227 3/11 rs367976089 1 NA A:0.0014 A:0 CGC G,A 5.766e-05 19:49357357 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 intron_variant 0.156388 0.15352 0.01258 0.069865 0.6010359 0.0776959 0.002047317 FALSE 5.02437e-05 ENSE00002325141_001 ENSE00002325141 001 2 135602735 135602904 + 68 45 57 G T 135602761 2770 27 TTAGCATGCCCCTTGATTGCAGCCTGTTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845190 134845191 134845191 upstr_intron -42 -0.6029412 TTAGCATGCCCCTTGATTGCAGCCTGTTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 115 10 1 1 1 0.9983962 0.9987467 0.9981375 0.9477641 NA NA 0.001862493 0.05223587 0.9985715 0.9729508 NA 0.02704918 NA FALSE NA 0 -0.897 . intron_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 1/7 1 NA GGT G,T 8.265e-06 2:134845191 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 intron_variant -0.248066 0.17137 0.01165 0.077785 0.6794164 0.0748771 1.988715e-07 FALSE NA ENSE00002325141_003 ENSE00002325141 003 2 135602735 135602904 + 68 45 57 G C 135602784 2772 50 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTCTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845213 134845214 134845214 upstr_intron -19 -0.2647059 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTCTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 141 507 1 0.9902774 0.9951387 0.9983962 0.9987467 0.9981375 0.9477641 NA NA 0.001862493 0.04251323 0.9985715 0.9729508 NA 0.02218786 NA FALSE NA 0.914 0.624 . intron_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 1/7 1 NA TGT G,C 8.266e-06 2:134845214 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 intron_variant 2.333637 0.96994 0.82622 0.077785 0.860058 0.426107 1.988715e-07 FALSE 4.06471e-06 ENSE00002325141_004 ENSE00002325141 004 2 135602735 135602904 + 68 45 57 C T 135602787 2773 53 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGTTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845216 134845217 134845217 upstr_intron -16 -0.2205882 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGTTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 65 56 1 1 1 0.9983962 0.9987467 0.9981375 0.9477641 NA NA 0.001862493 0.05223587 0.9985715 0.9729508 NA 0.02704918 NA FALSE NA 0 -0.611 . intron_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 1/7 1 NA GCT C,T 8.267e-06 2:134845217 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 intron_variant 2.278651 0.15341 0.01911 0.077785 0.8295691 0.38985 1.988715e-07 FALSE 4.06408e-06 ENSE00002325141_005 ENSE00002325141 005 2 135602735 135602904 + 68 45 57 G C 135602804 2774 70 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGACGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845233 134845234 134845234 exon 2 0.04444444 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGACGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 999 137 0.9980181 1 0.9990091 0.9983962 0.9987467 0.9981375 0.9477641 NA NA -0.0001193621 0.05223587 0.9985715 0.9729508 NA 0.02605825 NA FALSE NA 1 1.829 . splice_region_variant&non_coding_transcript_exon_variant&non_coding_transcript_variant LOW ACMSD HGNC 19288 ENST00000485893 2/8 1 NA AGG G,C 8.268e-06 2:134845234 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 missense_variant 3.353442 0.9734 0.85626 0.486886 0.9601797 0 1.988715e-07 FALSE 4.06412e-06 ENSE00002325141_006 ENSE00002325141 006 2 135602735 135602904 + 68 45 57 G T 135602810 2775 76 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGTCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845239 134845240 134845240 exon 8 0.1777778 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGTCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 14 86 1 1 1 0.9983962 0.9987467 0.9981375 0.9477641 NA NA 0.001862493 0.05223587 0.9985715 0.9729508 NA 0.02704918 NA FALSE NA 1 5.087 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 2/8 rs537448754 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 GGC G,T 1.654e-05 2:134845240 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 missense_variant 5.566265 0.98204 0.94525 0.497415 0.9928774 0 1.988715e-07 FALSE 8.12916e-06 ENSE00002325141_011 ENSE00002325141 011 2 135602735 135602904 + 68 45 57 C T 135602836 2780 102 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAATACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845265 134845266 134845266 exon -12 0.7555556 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAATACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 156 77 1 0.9964635 0.9982318 0.9983962 0.9987467 0.9981375 0.9477641 NA NA 0.001862493 0.04869938 0.9985715 0.9729508 NA 0.02528094 NA FALSE NA 0.999 4.09 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 2/8 1 NA ACA C,T 8.269e-06 2:134845266 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 missense_variant 3.093246 0.98248 0.92657 0.497415 0.9840796 0 1.988715e-07 FALSE 1.21984e-05 ENSE00002325141_015 ENSE00002325141 015 2 135602735 135602904 + 68 45 57 G A 135602868 2784 134 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATAAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845297 134845298 134845298 downstr_intron 21 1.375 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATAAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 179 560 1 0.9997175 0.9998587 0.9983962 0.9987467 0.9981375 0.9477641 NA NA 0.001862493 0.05195335 0.9985715 0.9729508 NA 0.02690792 NA FALSE NA 0 -0.529 . intron_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 2/7 1 NA TGA G,A 8.269e-06 2:134845298 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 intron_variant 0.26765 0.12042 0.00324 0.053691 0.4553769 0.0897784 1.988715e-07 FALSE 8.13888e-06 ENSE00002325141_016 ENSE00002325141 016 2 135602735 135602904 + 68 45 57 A C 135602878 2785 144 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTCGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845307 134845308 134845308 downstr_intron 31 1.553571 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTCGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 24 136 1 0.9855543 0.9927771 0.9983962 0.9987467 0.9981375 0.9477641 NA NA 0.001862493 0.03779014 0.9985715 0.9729508 NA 0.01982631 NA FALSE NA 0.003 0.643 . intron_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 2/7 1 NA TAG A,C 8.268e-06 2:134845308 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 intron_variant 0.052447 0.10083 0.08111 0.053691 0.4745116 0.0906167 1.988715e-07 FALSE 4.07159e-06 ENSE00002325141_017 ENSE00002325141 017 2 135602735 135602904 + 68 45 57 C A 135602880 2786 146 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGAACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845309 134845310 134845310 downstr_intron 33 1.589286 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGAACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 139 346 0.9957799 0.9972475 0.9965137 0.9983962 0.9987467 0.9981375 0.9477641 NA NA -0.002357645 0.04948337 0.9985715 0.9729508 NA 0.02356286 NA FALSE NA 0.002 -0.119 . intron_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 2/7 1 NA GCA C,A 1.654e-05 2:134845310 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 intron_variant 0.270631 0.19624 0.02442 0.053691 0.65567 0.0906167 1.988715e-07 FALSE 4.07252e-06 ENSE00002325141_018 ENSE00002325141 018 2 135602735 135602904 + 68 45 57 G C 135602887 2787 153 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGCGAGAGCTGAGCCATGGG 134845164 134845334 134845316 134845317 134845317 downstr_intron 40 1.714286 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGCGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 1556 46 1 0.9965462 0.9982731 0.9983962 0.9987467 0.9981375 0.9477641 NA NA 0.001862493 0.04878208 0.9985715 0.9729508 NA 0.02532229 NA FALSE NA 0.001 -0.065 . intron_variant&non_coding_transcript_variant MODIFIER ACMSD HGNC 19288 ENST00000485893 2/7 rs374073000 1 NA C:0.0003 C:0 GGG G,C 1.654e-05 2:134845317 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 intron_variant -0.035079 0.19146 0.05873 0.053691 0.5899336 0.0906167 1.988715e-07 FALSE 2.03721e-05 ENSE00002327510_001 ENSE00002327510 001 5 147021220 147021389 - 51 57 62 T C 147021231 1606 159 ATCTCTCTGGCCGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641667 147641668 147641668 downstr_intron 40 1.8 CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACGGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 718 795 1 1 1 NA NA 0.9547357 1 NA NA 0.04526427 0 NA 0.9773679 NA 0.02263213 NA FALSE NA 0 -0.749 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 8/20 1 NA CTG T,C 8.237e-06 5:147641668 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant 0.329742 0.25641 0.12778 0.163922 0.7487998 0.117432 0.9999365 TRUE 8.20843e-06 ENSE00002327510_002 ENSE00002327510 002 5 147021220 147021389 - 51 57 62 G T 147021232 1607 158 ATCTCTCTGGCTTTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641668 147641669 147641669 downstr_intron 39 1.78 CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAAAAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 133 513 0.9589687 0.9996916 0.9793301 NA NA 0.9547357 1 NA NA 0.004232933 -0.0003084135 NA 0.9773679 NA 0.00196226 NA FALSE NA 0 -1.069 rs186215158 intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 8/20 rs186215158 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 TGT G,T 8.237e-06 5:147641669 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant -0.147554 0.18341 0.01539 0.163922 0.4806618 0.117432 0.9999365 TRUE 8.21133e-06 ENSE00002327510_006 ENSE00002327510 006 5 147021220 147021389 - 51 57 62 C G 147021247 1611 143 ATCTCTCTGGCTGTTTGTGGCAAATGCGTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641683 147641684 147641684 downstr_intron 24 1.48 CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCACGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 468 296 0.9967003 1 0.9983501 NA NA 0.9547357 1 NA NA 0.04196454 0 NA 0.9773679 NA 0.02098227 NA FALSE NA 0.004 -0.009 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 8/20 1 NA CCT C,G 1.647e-05 5:147641684 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant 0.299729 0.29378 0.06627 0.163922 0.6260806 0.228495 0.9999365 TRUE 8.17949e-06 ENSE00002327510_007 ENSE00002327510 007 5 147021220 147021389 - 51 57 62 T A 147021261 1612 129 ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATATCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641697 147641698 147641698 downstr_intron 10 1.2 CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGATATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 388 990 0.9997877 1 0.9998938 NA NA 0.9547357 1 NA NA 0.04505194 0 NA 0.9773679 NA 0.02252597 NA FALSE NA 0.054 1.668 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 8/20 1 NA TTT T,A 3.295e-05 5:147641698 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant 1.135719 0.75877 0.34559 0.106106 0.6851441 0.163775 0.9999365 TRUE 1.63098e-05 ENSE00002327510_008 ENSE00002327510 008 5 147021220 147021389 - 51 57 62 A G 147021266 1613 124 ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTGTTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641702 147641703 147641703 downstr_intron 5 1.1 CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAACAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 305 160 0.8007698 1 0.9003849 NA NA 0.9547357 1 NA NA -0.1539659 0 NA 0.9773679 NA -0.07698295 NA FALSE NA 0.001 -0.395 . splice_region_variant&intron_variant LOW JAKMIP2 HGNC 29067 ENST00000265272 8/20 1 NA TAT A,G 8.237e-06 5:147641703 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 splice_region_variant 1.077628 0.25198 0.06781 0.106106 0.6590376 0.380053 0.9999365 TRUE 4.07232e-06 ENSE00002327510_014 ENSE00002327510 014 5 147021220 147021389 - 51 57 62 C T 147021327 1619 63 ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTTCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641763 147641764 147641764 exon 1 0.01754386 CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGAACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 375 63 0.9945629 1 0.9972815 NA NA 0.9547357 1 NA NA 0.0398272 0 NA 0.9773679 NA 0.0199136 NA FALSE NA 1 6.784 . missense_variant&splice_region_variant MODERATE JAKMIP2 HGNC 29067 ENST00000265272 8/21 rs558580763 1 deleterious(0.01) probably_damaging(0.987) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 TCC C,T 3.295e-05 5:147641764 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 missense_variant 7.153805 0.99335 0.98277 0.732398 0.9991504 0 0.9999365 TRUE 2.44206e-05 ENSE00002327510_017 ENSE00002327510 017 5 147021220 147021389 - 51 57 62 A G 147021354 1622 36 ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGGTCCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641790 147641791 147641791 upstr_intron -27 -0.4193548 CAAAAAACTATAAAGAAACATCTACCAATTCTGGACCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 117 95 1 1 1 NA NA 0.9547357 1 NA NA 0.04526427 0 NA 0.9773679 NA 0.02263213 NA FALSE NA 0.618 1.407 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 7/20 rs371878025 1 NA G:0.0002 G:0 GAT A,G 8.237e-06 5:147641791 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant 0.224894 0.66956 0.35537 0.106106 0.4819148 0.116314 0.9999365 TRUE 4.07637e-06 ENSE00002327510_020 ENSE00002327510 020 5 147021220 147021389 - 51 57 62 G C 147021364 1625 26 ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTCGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641800 147641801 147641801 upstr_intron -37 -0.5806452 CAAAAAACTATAAAGAAACATCTACGAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 64 84 1 0.9883302 0.9941651 NA NA 0.9547357 1 NA NA 0.04526427 -0.01166976 NA 0.9773679 NA 0.01679725 NA FALSE NA 0.007 1.679 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 7/20 1 NA TGG G,C 2.471e-05 5:147641801 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant 0.517458 0.28702 0.20024 0.106106 0.6241713 0.0673029 0.9999365 TRUE 3.67927e-05 ENSE00002327510_021 ENSE00002327510 021 5 147021220 147021389 - 51 57 62 G A 147021365 1626 25 ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGATAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641801 147641802 147641802 upstr_intron -38 -0.5967742 CAAAAAACTATAAAGAAACATCTATCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 19 313 1 0.9993722 0.9996861 NA NA 0.9547357 1 NA NA 0.04526427 -0.0006277621 NA 0.9773679 NA 0.02231825 NA FALSE NA 0.001 -0.035 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 7/20 1 NA GGT G,A 8.237e-06 5:147641802 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant 0.763517 0.21033 0.06729 0.106106 0.7835374 0.0673029 0.9999365 TRUE NA ENSE00002327510_022 ENSE00002327510 022 5 147021220 147021389 - 51 57 62 T G 147021366 1627 24 ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGATCCAGAATTGGGAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641802 147641803 147641803 upstr_intron -39 -0.6129032 CAAAAAACTATAAAGAAACATCTCCCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 107 51 1 1 1 NA NA 0.9547357 1 NA NA 0.04526427 0 NA 0.9773679 NA 0.02263213 NA FALSE NA 0 0.364 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 7/20 rs369348504 1 NA G:0.0002 G:0 GTA T,G 8.238e-06 5:147641803 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant 1.012991 0.24959 0.07679 0.106106 0.6933811 0.0673029 0.9999365 TRUE 8.17815e-06 ENSE00002328082_001 ENSE00002328082 001 3 9843303 9843472 + 42 96 32 C G 9843322 115 20 GGTGTCAGCTTTAGAGAAAGATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 9801637 9801638 9801638 upstr_intron -23 -0.5238095 GGTGTCAGCTTTAGAGAAAGATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 701 1190 0.9056154 0.9931125 0.9493639 0.9970208 0.9723905 0.9807111 0.929183 NA NA -0.07509568 0.06392951 0.9847057 0.954947 NA -0.005583088 NA FALSE NA 0 0.328 . intron_variant MODIFIER ARPC4 HGNC 707 ENST00000397261 3/5 1 NA ACA C,G 8.292e-06 3:9801638 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 intron_variant 0.152173 0.29156 0.4487 0.283894 0.4769964 0.0501872 0.9377988 TRUE 4.73292e-06 ENSE00002328082_002 ENSE00002328082 002 3 9843303 9843472 + 42 96 32 G A 9843334 116 32 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTACACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 9801649 9801650 9801650 upstr_intron -11 -0.2380952 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTACACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 574 510 0.9985572 0.9976361 0.9980967 0.9970208 0.9723905 0.9807111 0.929183 NA NA 0.01784612 0.06845313 0.9847057 0.954947 NA 0.04314962 NA FALSE NA 0 0.056 . intron_variant MODIFIER ARPC4 HGNC 707 ENST00000397261 3/5 1 NA TGC G,A 1.656e-05 3:9801650 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 intron_variant 0.071854 0.22355 0.11966 0.283894 0.3559325 0.0494177 0.9377988 TRUE NA ENSE00002328082_003 ENSE00002328082 003 3 9843303 9843472 + 42 96 32 C T 9843356 117 54 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATTGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 9801671 9801672 9801672 exon 12 0.125 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATTGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 583 804 0.9991498 1 0.9995749 0.9970208 0.9723905 0.9807111 0.929183 NA NA 0.01843876 0.07081701 0.9847057 0.954947 NA 0.04462789 NA FALSE NA 0 -1.848 . synonymous_variant LOW ARPC4 HGNC 707 ENST00000397261 4/6 1 NA TCG C,T 1.655e-05 3:9801672 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 synonymous_variant 2.273195 0.75955 0.07859 0.706548 0.8439481 0 0.9377988 TRUE 2.52133e-05 ENSE00002328082_004 ENSE00002328082 004 3 9843303 9843472 + 42 96 32 A G 9843376 118 74 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAGGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 9801691 9801692 9801692 exon 32 0.3333333 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAGGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 324 363 0.9406879 1 0.9703439 0.9970208 0.9723905 0.9807111 0.929183 NA NA -0.04002318 0.07081701 0.9847057 0.954947 NA 0.01539692 NA FALSE NA 1 9.179 . missense_variant MODERATE ARPC4 HGNC 707 ENST00000397261 4/6 rs200029713 1 tolerated(0.1) probably_damaging(0.968) G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 AAG A,G 8.271e-06 3:9801692 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 missense_variant 6.157229 0.99518 0.9947 0.706548 0.9990236 0 0.9377988 TRUE 4.16747e-06 ENSE00002328082_005 ENSE00002328082 005 3 9843303 9843472 + 42 96 32 A T 9843381 119 79 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCTTGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 9801696 9801697 9801697 exon 37 0.3854167 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCTTGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 165 172 1 0.9468567 0.9734283 0.9970208 0.9723905 0.9807111 0.929183 NA NA 0.01928892 0.01767367 0.9847057 0.954947 NA 0.01848129 NA FALSE NA 1 9.179 . missense_variant MODERATE ARPC4 HGNC 707 ENST00000397261 4/6 1 tolerated(0.48) benign(0.148) NA CAT A,T 8.271e-06 3:9801697 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 start_lost 4.080994 0.99189 0.99141 0.706548 0.9436656 0 0.9377988 TRUE 8.343e-06 ENSE00002328082_006 ENSE00002328082 006 3 9843303 9843472 + 42 96 32 C A 9843410 120 108 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAAATTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 9801725 9801726 9801726 exon -31 0.6875 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAAATTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 1199 111 0.9991387 1 0.9995694 0.9970208 0.9723905 0.9807111 0.929183 NA NA 0.01842767 0.07081701 0.9847057 0.954947 NA 0.04462234 NA FALSE NA 1 2.129 . missense_variant MODERATE ARPC4 HGNC 707 ENST00000397261 4/6 1 tolerated(0.21) benign(0.008) NA ACT C,A 8.278e-06 3:9801726 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 missense_variant 3.356037 0.98138 0.98226 0.706548 0.9893782 0 0.9377988 TRUE NA ENSE00002328082_007 ENSE00002328082 007 3 9843303 9843472 + 42 96 32 C A 9843419 121 117 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATACTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 9801734 9801735 9801735 exon -22 0.78125 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATACTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 473 122 1 1 1 0.9970208 0.9723905 0.9807111 0.929183 NA NA 0.01928892 0.07081701 0.9847057 0.954947 NA 0.04505297 NA FALSE NA 0.902 -0.014 . synonymous_variant LOW ARPC4 HGNC 707 ENST00000397261 4/6 1 NA TCC C,A 8.28e-06 3:9801735 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 synonymous_variant 2.9342 0.98054 0.96336 0.706548 0.7823472 0 0.9377988 TRUE NA ENSE00002328082_008 ENSE00002328082 008 3 9843303 9843472 + 42 96 32 C G 9843448 122 146 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACGCTGTGACCCATGAGTTTGCGATAC 9801618 9801788 9801763 9801764 9801764 downstr_intron 8 1.258065 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACGCTGTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 74 615 0.997754 0.9988783 0.9983162 0.9970208 0.9723905 0.9807111 0.929183 NA NA 0.01704294 0.06969532 0.9847057 0.954947 NA 0.04336913 NA FALSE NA 0 -1.114 . splice_region_variant&intron_variant LOW ARPC4 HGNC 707 ENST00000397261 4/5 1 NA CCC C,G 8.307e-06 3:9801764 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 splice_region_variant 0.403332 0.26819 0.14526 0.115753 0.4631888 0.324215 0.9377988 TRUE NA ENSE00002328082_010 ENSE00002328082 010 3 9843303 9843472 + 42 96 32 G C 9843451 124 149 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTCTGACCCATGAGTTTGCGATAC 9801618 9801788 9801766 9801767 9801767 downstr_intron 11 1.354839 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTCTGACCCATGAGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 31 1783 1 0.8061858 0.9030929 0.9970208 0.9723905 0.9807111 0.929183 NA NA 0.01928892 -0.1229972 0.9847057 0.954947 NA -0.05185414 NA FALSE NA 0.025 0.203 . intron_variant MODIFIER ARPC4 HGNC 707 ENST00000397261 4/5 rs374693562 1 NA C:0.0003 C:0.0006 TGT G,C 0.0002328 3:9801767 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 intron_variant -0.01673 0.6731 0.29443 0.115753 0.4951126 0.18219 0.9377988 TRUE 0.000261198 ENSE00002328082_011 ENSE00002328082 011 3 9843303 9843472 + 42 96 32 A G 9843461 125 159 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGGGTTTGCGATAC 9801618 9801788 9801776 9801777 9801777 downstr_intron 21 1.677419 GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGGGTTTGCGATAC GGTGTCAGCTTTAGAGAAACATTTCTCTCTTGCACTCCCCAGGCTGATGAGATCGAGAAGATTTTGTGCCACAAGTTCATGCGCTTCATGATGATGCGAGCAGAGAACTTCTTTATCCTTCGAAGGAAGCCTGTGGAGGTGAGACCCTGTGACCCATGAGTTTGCGATAC mutant NA NA NA NA NA 828 317 0.999152 0.9995008 0.9993264 0.9970208 0.9723905 0.9807111 0.929183 NA NA 0.01844091 0.07031778 0.9847057 0.954947 NA 0.04437935 NA FALSE NA 0 0.141 . intron_variant MODIFIER ARPC4 HGNC 707 ENST00000397261 4/5 1 NA GAG A,G 4.178e-05 3:9801777 ARPC4 HGNC Symbol protein_coding 15231 ENSG00000241553 ENSE00003709822 intron_variant -0.105946 0.20498 0.04381 0.115753 0.2437268 0.0516859 0.9377988 TRUE 3.05505e-05 ENSE00002330523_003 ENSE00002330523 003 5 96097937 96098106 + 41 99 30 A G 96097961 840 25 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAACTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762256 96762257 96762257 upstr_intron -17 -0.3902439 TATATACAACATGTTACTAATAAAGTTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 362 153 1 0.9798229 0.9899115 NA NA 0.9765241 0.9807461 NA NA 0.02347586 -0.0009232232 NA 0.9786351 NA 0.01127632 NA FALSE NA 0.001 0.078 . intron_variant MODIFIER CAST HGNC 1515 ENST00000508608 23/30 1 NA AAT A,G 8.239e-06 5:96762257 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 3_prime_UTR_variant 0.622237 0.16535 0.05269 0.322412 0.8691762 0.0831602 1.555758e-06 FALSE NA ENSE00002330523_004 ENSE00002330523 004 5 96097937 96098106 + 41 99 30 T A 96097965 841 29 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAATAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762260 96762261 96762261 upstr_intron -13 -0.2926829 TATATACAACATGTTACTAATAAAATTTATTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 12 17 0.8341025 0.8 0.8170512 NA NA 0.9765241 0.9807461 NA NA -0.1424217 -0.1807461 NA 0.9786351 NA -0.1615839 NA FALSE NA 0 0.01 . intron_variant MODIFIER CAST HGNC 1515 ENST00000508608 23/30 1 NA TTT T,A 1.648e-05 5:96762261 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 3_prime_UTR_variant 0.109364 0.16168 0.03828 0.322412 0.5467231 0.0853482 1.555758e-06 FALSE 8.62307e-06 ENSE00002330523_006 ENSE00002330523 006 5 96097937 96098106 + 41 99 30 A G 96097979 843 43 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATCTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762274 96762275 96762275 exon 2 0.02020202 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAGATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 669 619 1 0.9971208 0.9985604 NA NA 0.9765241 0.9807461 NA NA 0.02347586 0.01637462 NA 0.9786351 NA 0.01992524 NA FALSE NA 0.547 1.635 rs61744247 missense_variant&splice_region_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 rs61744247 1 tolerated(0.1) possibly_damaging(0.515) G:0.0072 G:0.0227 G:0.0029 NA G:0.002 G:0.001 G:0.001 G:0.0168 G:0.0003 AAA A,G 0.002084 5:96762275 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant 0.691082 0.57919 0.2854 0.732398 0.9959762 0 1.555758e-06 FALSE 0.00184617 ENSE00002330523_007 ENSE00002330523 007 5 96097937 96098106 + 41 99 30 A G 96097980 844 44 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAACTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762275 96762276 96762276 exon 3 0.03030303 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAGTTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 182 27 0.9654314 0.9985779 0.9820047 NA NA 0.9765241 0.9807461 NA NA -0.01109272 0.01783177 NA 0.9786351 NA 0.003369522 NA FALSE NA 0.236 -0.071 . splice_region_variant&synonymous_variant LOW CAST HGNC 1515 ENST00000508608 24/31 1 NA AAT A,G 8.237e-06 5:96762276 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 splice_region_variant 0.097747 0.56621 0.10804 0.732398 0.8347074 0 1.555758e-06 FALSE NA ENSE00002330523_010 ENSE00002330523 010 5 96097937 96098106 + 41 99 30 T G 96097992 847 56 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTCGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762287 96762288 96762288 exon 15 0.1515152 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCGAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 429 465 0.854465 1 0.9272325 NA NA 0.9765241 0.9807461 NA NA -0.1220591 0.01925385 NA 0.9786351 NA -0.05140263 NA FALSE NA 0.019 -0.696 . synonymous_variant LOW CAST HGNC 1515 ENST00000508608 24/31 1 NA CTA T,G 8.237e-06 5:96762288 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 synonymous_variant 0.91561 0.25609 0.02065 0.732398 0.7711412 0 1.555758e-06 FALSE 4.16063e-06 ENSE00002330523_011 ENSE00002330523 011 5 96097937 96098106 + 41 99 30 A C 96097994 848 58 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTGTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762289 96762290 96762290 exon 17 0.1717172 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTACACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 51 190 1 1 1 NA NA 0.9765241 0.9807461 NA NA 0.02347586 0.01925385 NA 0.9786351 NA 0.02136486 NA FALSE NA 0.907 1.599 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 1 deleterious(0.02) possibly_damaging(0.752) NA AAA A,C 8.237e-06 5:96762290 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant 4.876442 0.93453 0.62881 0.732398 0.9972925 0 1.555758e-06 FALSE 4.15783e-06 ENSE00002330523_013 ENSE00002330523 013 5 96097937 96098106 + 41 99 30 T C 96097997 850 61 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAGGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762292 96762293 96762293 exon 20 0.2020202 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACCTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 132 223 1 1 1 NA NA 0.9765241 0.9807461 NA NA 0.02347586 0.01925385 NA 0.9786351 NA 0.02136486 NA FALSE NA 0.799 1.266 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 1 tolerated(0.23) probably_damaging(0.995) NA CTT T,C 8.237e-06 5:96762293 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant 4.647725 0.9639 0.51934 0.732398 0.9977849 0 1.555758e-06 FALSE 4.15472e-06 ENSE00002330523_015 ENSE00002330523 015 5 96097937 96098106 + 41 99 30 G T 96098005 852 69 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGAAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762300 96762301 96762301 exon 28 0.2828283 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTTCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 836 361 0.8263282 0.8020972 0.8142127 NA NA 0.9765241 0.9807461 NA NA -0.1501959 -0.1786489 NA 0.9786351 NA -0.1644224 NA FALSE NA 0.991 2.681 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 1 tolerated(0.37) benign(0.026) NA TGC G,T 8.237e-06 5:96762301 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant 2.703315 0.96532 0.85308 0.732398 0.9693525 0 1.555758e-06 FALSE NA ENSE00002330523_018 ENSE00002330523 018 5 96097937 96098106 + 41 99 30 G A 96098020 855 84 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAATCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762315 96762316 96762316 exon 43 0.4343434 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGATTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 35 44 1 1 1 NA NA 0.9765241 0.9807461 NA NA 0.02347586 0.01925385 NA 0.9786351 NA 0.02136486 NA FALSE NA 1 2.644 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 1 tolerated(0.39) possibly_damaging(0.824) NA GGT G,A 8.237e-06 5:96762316 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant 4.657734 0.97689 0.81044 0.732398 0.9982468 0 1.555758e-06 FALSE NA ENSE00002330523_019 ENSE00002330523 019 5 96097937 96098106 + 41 99 30 G C 96098035 856 99 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGGTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762330 96762331 96762331 exon -42 0.5858586 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCACCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 147 1293 0.9861894 0.9974583 0.9918239 NA NA 0.9765241 0.9807461 NA NA 0.009665287 0.01671215 NA 0.9786351 NA 0.01318872 NA FALSE NA 0.369 4.136 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 1 deleterious(0.01) probably_damaging(0.989) NA AGC G,C 8.237e-06 5:96762331 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant 4.796384 0.59229 0.68167 0.732398 0.9976265 0 1.555758e-06 FALSE 4.13449e-06 ENSE00002330523_020 ENSE00002330523 020 5 96097937 96098106 + 41 99 30 C T 96098042 857 106 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCATTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762337 96762338 96762338 exon -35 0.6565657 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAATGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 145 279 0.8596917 0.8018096 0.8307507 NA NA 0.9765241 0.9807461 NA NA -0.1168324 -0.1789365 NA 0.9786351 NA -0.1478845 NA FALSE NA 0 0.106 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 rs201451322&COSM255652 1 deleterious(0) probably_damaging(0.973) NA T:0 T:0.0001 ACG C,T 8.236e-05 5:96762338 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant 4.791518 0.26632 0.03201 0.732398 0.9978285 0 1.555758e-06 FALSE 7.04652e-05 ENSE00002330523_021 ENSE00002330523 021 5 96097937 96098106 + 41 99 30 G A 96098043 858 107 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTTGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762338 96762339 96762339 exon -34 0.6666667 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACAACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 103 222 0.8 0.972738 0.886369 NA NA 0.9765241 0.9807461 NA NA -0.1765241 -0.008008165 NA 0.9786351 NA -0.09226615 NA FALSE NA 0 -0.119 . synonymous_variant LOW CAST HGNC 1515 ENST00000508608 24/31 1 NA CGA G,A 8.236e-06 5:96762339 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 synonymous_variant 0.355652 0.2907 0.01483 0.732398 0.734068 0 1.555758e-06 FALSE 1.66378e-05 ENSE00002330523_022 ENSE00002330523 022 5 96097937 96098106 + 41 99 30 C G 96098046 859 110 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGCGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762341 96762342 96762342 exon -31 0.6969697 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACGCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 1269 83 0.91622 1 0.95811 NA NA 0.9765241 0.9807461 NA NA -0.06030419 0.01925385 NA 0.9786351 NA -0.02052517 NA FALSE NA 0 -1.534 . synonymous_variant LOW CAST HGNC 1515 ENST00000508608 24/31 1 NA CCC C,G 1.647e-05 5:96762342 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 synonymous_variant 0.757405 0.48896 0.01455 0.732398 0.696749 0 1.555758e-06 FALSE 8.32106e-06 ENSE00002330523_023 ENSE00002330523 023 5 96097937 96098106 + 41 99 30 C G 96098051 860 115 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCACCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762346 96762347 96762347 exon -26 0.7474747 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGGTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 70 649 1 0.9969557 0.9984778 NA NA 0.9765241 0.9807461 NA NA 0.02347586 0.01620951 NA 0.9786351 NA 0.01984269 NA FALSE NA 0.005 1.806 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 1 deleterious(0.04) benign(0.142) NA GCT C,G 8.236e-06 5:96762347 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant 2.895032 0.33037 0.14101 0.732398 0.9771035 0 1.555758e-06 FALSE 4.17317e-06 ENSE00002330523_028 ENSE00002330523 028 5 96097937 96098106 + 41 99 30 A G 96098071 865 135 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGCATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762366 96762367 96762367 exon -6 0.9494949 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATGCCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 389 1096 1 0.9969575 0.9984788 NA NA 0.9765241 0.9807461 NA NA 0.02347586 0.01621138 NA 0.9786351 NA 0.01984362 NA FALSE NA 0 -0.701 . missense_variant MODERATE CAST HGNC 1515 ENST00000508608 24/31 1 tolerated(0.38) benign(0.02) NA TAC A,G 8.237e-06 5:96762367 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 missense_variant -0.67252 0.13911 0.01064 0.732398 0.9231274 0 1.555758e-06 FALSE NA ENSE00002330523_032 ENSE00002330523 032 5 96097937 96098106 + 41 99 30 T C 96098078 869 142 TTTATCTCCCAAATAAGATGTGCTGCTTGCCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762373 96762374 96762374 downstr_intron 2 1.068966 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGCAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 60 102 0 0.0301137 0.01505685 NA NA 0.9765241 0.9807461 NA NA -0.9765241 -0.9506325 NA 0.9786351 NA -0.9635783 NA TRUE NA 1 3.372 . splice_donor_variant HIGH CAST HGNC 1515 ENST00000508608 24/30 1 NA HC GTA T,C 8.237e-06 5:96762374 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 splice_donor_variant 3.398591 0.98027 0.90328 0.163922 0.9842759 0.946185 1.555758e-06 FALSE 8.9907e-06 ENSE00002330523_034 ENSE00002330523 034 5 96097937 96098106 + 41 99 30 A G 96098088 871 152 TTTATCTCCCAAATAAGACGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762383 96762384 96762384 downstr_intron 12 1.413793 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACGTCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 49 137 1 1 1 NA NA 0.9765241 0.9807461 NA NA 0.02347586 0.01925385 NA 0.9786351 NA 0.02136486 NA FALSE NA 0 -1.11 . intron_variant MODIFIER CAST HGNC 1515 ENST00000508608 24/30 1 NA CAT A,G 8.237e-06 5:96762384 CAST HGNC Symbol protein_coding 254328 ENSG00000153113 ENSE00003584245 3_prime_UTR_variant 0.22986 0.14641 0.01375 0.106106 0.3976349 0.0476178 1.555758e-06 FALSE NA ENSE00002331010_001 ENSE00002331010 001 17 10366835 10367004 - 33 93 44 A G 10366847 678 158 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATCTTCTTGAGGATC 10463517 10463687 10463529 10463530 10463530 downstr_intron 21 1.65625 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATCTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 1803 1108 0.9989556 0.9774296 0.9881926 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02318783 0.09295409 0.9979862 0.9301216 NA 0.05807096 NA FALSE NA 0 -0.297 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA AAA A,G 8.236e-06 17:10463530 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 intron_variant -0.135364 0.24424 0.07567 0.049104 0.4414541 0.0604038 NA NA 4.07667e-06 ENSE00002331010_002 ENSE00002331010 002 17 10366835 10367004 - 33 93 44 G A 10366853 679 152 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATTTTCATTTTCTTGAGGATC 10463517 10463687 10463535 10463536 10463536 downstr_intron 15 1.46875 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATTTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 616 675 0.9852751 0.9966027 0.9909389 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.009507321 0.1121272 0.9979862 0.9301216 NA 0.06081727 NA FALSE NA 0 0.081 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA AGA G,A 3.295e-05 17:10463536 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 intron_variant 0.27896 0.21978 0.07061 0.049104 0.6496683 0.0604038 NA NA 2.44204e-05 ENSE00002331010_003 ENSE00002331010 003 17 10366835 10367004 - 33 93 44 C G 10366856 680 149 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTCATCTTCATTTTCTTGAGGATC 10463517 10463687 10463538 10463539 10463539 downstr_intron 12 1.375 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTCATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 788 271 0.9981576 1 0.9990788 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02238991 0.1155245 0.9979862 0.9301216 NA 0.0689572 NA FALSE NA 0 -0.026 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA TCA C,G 8.236e-06 17:10463539 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 intron_variant 0.322007 0.22844 0.10534 0.049104 0.5209873 0.0458773 NA NA 4.06908e-06 ENSE00002331010_004 ENSE00002331010 004 17 10366835 10367004 - 33 93 44 A G 10366858 681 147 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCCTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463540 10463541 10463541 downstr_intron 10 1.3125 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCCTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant 11 18 0.9982202 0.9924552 0.9953377 182 450 1 0.9956123 0.9978062 0.9961109 0.9998616 0.9757677 0.8844755 0.00210931 -0.007406435 0.02423226 0.1111368 0.9979862 0.9301216 -0.002648563 0.06768452 0.07033309 FALSE FALSE 0 -0.428 rs111771878 intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs111771878 1 G:0.0034 G:0.0129 G:0 NA G:0 G:0 G:0 G:0.0107 G:0 AAG A,G 0.001071 17:10463541 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 intron_variant 0.720719 0.16398 0.01929 0.049104 0.4994213 0.0531876 NA NA 0.000846244 ENSE00002331010_005 ENSE00002331010 005 17 10366835 10367004 - 33 93 44 G A 10366859 682 146 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTTTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463541 10463542 10463542 downstr_intron 9 1.28125 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTTTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 106 877 1 0.9944775 0.9972388 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02423226 0.110002 0.9979862 0.9301216 NA 0.06711713 NA FALSE NA 0 -0.161 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 COSM4151461 1 NA AGA G,A 8.236e-06 17:10463542 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 intron_variant 0.576304 0.22343 0.06998 0.049104 0.7425065 0.0531876 NA NA 4.06828e-06 ENSE00002331010_006 ENSE00002331010 006 17 10366835 10367004 - 33 93 44 G A 10366861 683 144 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTTTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463543 10463544 10463544 downstr_intron 7 1.21875 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTTTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant 20 15 1 0.8501654 0.9250827 1159 2976 0.9331957 0.9469853 0.9400905 0.9961109 0.9998616 0.9757677 0.8844755 0.00388914 -0.1496962 -0.042572 0.06250974 0.9979862 0.9301216 -0.07290353 0.009968874 0.08287241 FALSE FALSE 0 -0.805 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA AGA G,A 2.471e-05 17:10463544 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 splice_region_variant 1.116328 0.2383 0.03429 0.049104 0.7649243 0.143588 NA NA 2.43817e-05 ENSE00002331010_007 ENSE00002331010 007 17 10366835 10367004 - 33 93 44 T C 10366864 684 141 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAGGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463546 10463547 10463547 downstr_intron 4 1.125 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAGGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 149 1687 0.1477811 0.07009092 0.108936 0.9961109 0.9998616 0.9757677 0.8844755 NA NA -0.8279867 -0.8143846 0.9979862 0.9301216 NA -0.8211856 NA TRUE NA 1 6.16 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA CTT T,C 8.236e-06 17:10463547 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 splice_region_variant 1.844821 0.97145 0.93451 0.049104 0.9705658 0.856513 NA NA 4.06309e-06 ENSE00002331010_008 ENSE00002331010 008 17 10366835 10367004 - 33 93 44 T A 10366865 685 140 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTTAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463547 10463548 10463548 downstr_intron 3 1.09375 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTTAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant 243 74 0 0 0 1494 323 0.009877422 0.003705333 0.006791378 0.9961109 0.9998616 0.9757677 0.8844755 -0.9961109 -0.9998616 -0.9658903 -0.8807702 0.9979862 0.9301216 -0.9979862 -0.9233302 0.07465599 TRUE TRUE 0.961 -0.035 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs377556134 1 NA A:0 A:0.0002 TTA T,A 3.295e-05 17:10463548 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 splice_region_variant 1.657612 0.91511 0.72868 0.049104 0.8175003 0.345529 NA NA 5.28206e-05 ENSE00002331010_009 ENSE00002331010 009 17 10366835 10367004 - 33 93 44 C T 10366872 686 133 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCACTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463554 10463555 10463555 exon -5 0.9569892 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCACTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 352 639 0.9846783 0.9997524 0.9922154 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.008910547 0.1152769 0.9979862 0.9301216 NA 0.06209373 NA FALSE NA 0.999 6.004 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs372114550 1 NA T:0.0002 T:0 GCG C,T 3.295e-05 17:10463555 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 7.094415 0.9646 0.92969 0.487112 0.9995055 0 NA NA 2.84403e-05 ENSE00002331010_010 ENSE00002331010 010 17 10366835 10367004 - 33 93 44 T A 10366881 687 124 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACATCTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463563 10463564 10463564 exon -14 0.8602151 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACATCTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant 63 50 0.8705927 0.9890638 0.9298283 1179 621 0.9934312 0.9472446 0.9703379 0.9961109 0.9998616 0.9757677 0.8844755 -0.1255181 -0.01079782 0.01766351 0.06276909 0.9979862 0.9301216 -0.06815797 0.0402163 0.1083743 FALSE FALSE 1 7.968 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA GTT T,A 8.236e-06 17:10463564 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 6.268038 0.97183 0.95398 0.487112 0.9935376 0 NA NA 4.0621e-06 ENSE00002331010_011 ENSE00002331010 011 17 10366835 10367004 - 33 93 44 T C 10366887 688 118 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAGTGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463569 10463570 10463570 exon -20 0.7956989 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAGTGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 417 475 0.9984102 1 0.9992051 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02264245 0.1155245 0.9979862 0.9301216 NA 0.06908347 NA FALSE NA 1 7.968 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA ATT T,C 8.237e-06 17:10463570 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 5.109652 0.97145 0.95043 0.487112 0.9987993 0 NA NA 1.21861e-05 ENSE00002331010_012 ENSE00002331010 012 17 10366835 10367004 - 33 93 44 C T 10366894 689 111 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCATGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463576 10463577 10463577 exon -27 0.7204301 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCATGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 102 95 0.997965 0.9971052 0.9975351 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.0221973 0.1126297 0.9979862 0.9301216 NA 0.06741351 NA FALSE NA 0.541 1.043 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs377612250 1 T:0.0002 T:0.0008 T:0 NA T:0 T:0 T:0 T:0.0002 T:0.0001 ACG C,T 0.0001071 17:10463577 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 6.142488 0.93694 0.46814 0.487112 0.9990024 0 NA NA 0.000101549 ENSE00002331010_013 ENSE00002331010 013 17 10366835 10367004 - 33 93 44 G A 10366895 690 110 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACTGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463577 10463578 10463578 exon -28 0.7096774 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACTGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 453 1144 1 0.9994276 0.9997138 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02423226 0.1149521 0.9979862 0.9301216 NA 0.06959219 NA FALSE NA 0 -2.336 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA CGG G,A 1.647e-05 17:10463578 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 synonymous_variant 1.452726 0.62495 0.11686 0.487112 0.7976391 0 NA NA 2.84333e-05 ENSE00002331010_014 ENSE00002331010 014 17 10366835 10367004 - 33 93 44 T G 10366900 691 105 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCCAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463582 10463583 10463583 exon -33 0.655914 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCCAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 181 250 1 0.9941547 0.9970774 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02423226 0.1096792 0.9979862 0.9301216 NA 0.06695573 NA FALSE NA 1 7.968 rs193175434 intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs193175434 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 TTG T,G 8.237e-06 17:10463583 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 5.636678 0.96659 0.94253 0.487112 0.9935835 0 NA NA 4.06197e-06 ENSE00002331010_015 ENSE00002331010 015 17 10366835 10367004 - 33 93 44 A G 10366904 692 101 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAACGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463586 10463587 10463587 exon -37 0.6129032 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAACGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 908 380 0.9899106 0.9948061 0.9923584 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.01414288 0.1103306 0.9979862 0.9301216 NA 0.06223674 NA FALSE NA 0 -2.362 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs370682652 1 NA G:0.0009 G:0 CAT A,G 0.0001153 17:10463587 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 synonymous_variant 0.358976 0.67041 0.06298 0.487112 0.6523763 0 NA NA 7.71887e-05 ENSE00002331010_016 ENSE00002331010 016 17 10366835 10367004 - 33 93 44 C T 10366909 693 96 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCAGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463591 10463592 10463592 exon -42 0.5591398 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCAGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 375 1973 0.9998902 0.9757406 0.9878154 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02412247 0.09126505 0.9979862 0.9301216 NA 0.05769376 NA FALSE NA 1 7.748 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs374951585 1 NA T:0.0002 T:0 CCG C,T 8.237e-06 17:10463592 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 7.255677 0.97275 0.93841 0.487112 0.9988303 0 NA NA 1.2189e-05 ENSE00002331010_017 ENSE00002331010 017 17 10366835 10367004 - 33 93 44 G A 10366910 694 95 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTTGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463592 10463593 10463593 exon -43 0.5483871 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTTGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 1034 739 0.9986791 0.9984399 0.9985595 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.0229114 0.1139644 0.9979862 0.9301216 NA 0.06843792 NA FALSE NA 0.926 0.229 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 COSM245860 1 NA CGA G,A 1.647e-05 17:10463593 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 synonymous_variant 1.372296 0.88163 0.32442 0.487112 0.8112988 0 NA NA NA ENSE00002331010_018 ENSE00002331010 018 17 10366835 10367004 - 33 93 44 A G 10366920 695 85 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACCGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463602 10463603 10463603 exon 41 0.4408602 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACCGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 1211 52 0.9978738 1 0.9989369 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02210606 0.1155245 0.9979862 0.9301216 NA 0.06881527 NA FALSE NA 1 9.254 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA CAG A,G 3.295e-05 17:10463603 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 5.991946 0.96684 0.95465 0.487112 0.9991401 0 NA NA 2.84446e-05 ENSE00002331010_019 ENSE00002331010 019 17 10366835 10367004 - 33 93 44 G A 10366921 696 84 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTATTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463603 10463604 10463604 exon 40 0.4301075 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTATTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 2093 86 0.9988402 1 0.9994201 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02307246 0.1155245 0.9979862 0.9301216 NA 0.06929847 NA FALSE NA 1 3.317 rs151230720 intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs151230720 1 A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 A:0.0023 A:0 AGT G,A 0.0001977 17:10463604 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 synonymous_variant 0.715986 0.93844 0.83161 0.487112 0.8000589 0 NA NA 0.000134096 ENSE00002331010_020 ENSE00002331010 020 17 10366835 10367004 - 33 93 44 G C 10366928 697 77 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAAGCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463610 10463611 10463611 exon 33 0.3548387 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAAGCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 708 1549 0.9994757 0.9995812 0.9995285 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02370795 0.1151057 0.9979862 0.9301216 NA 0.06940683 NA FALSE NA 1 3.32 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs548098000 1 C:0.0002 C:0 C:0 NA C:0 C:0.001 C:0 GGT G,C 2.471e-05 17:10463611 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 5.41714 0.92285 0.87184 0.487112 0.9981671 0 NA NA 2.85107e-05 ENSE00002331010_022 ENSE00002331010 022 17 10366835 10367004 - 33 93 44 G C 10366937 699 68 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATGAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463619 10463620 10463620 exon 24 0.2580645 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATGAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 2160 1568 0.9945049 0.9985368 0.9965208 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.01873712 0.1140613 0.9979862 0.9301216 NA 0.06639922 NA FALSE NA 0.994 2.585 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA TGA G,C 8.236e-06 17:10463620 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 5.05815 0.94 0.87297 0.487112 0.9947288 0 NA NA 4.12259e-06 ENSE00002331010_023 ENSE00002331010 023 17 10366835 10367004 - 33 93 44 T C 10366943 700 62 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAGATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463625 10463626 10463626 exon 18 0.1935484 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAGATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 280 791 0.9939241 1 0.9969621 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.01815641 0.1155245 0.9979862 0.9301216 NA 0.06684045 NA FALSE NA 1 0.571 rs139758152 intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs139758152 1 NA C:0 C:0.0001 TTT T,C 2.471e-05 17:10463626 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 synonymous_variant -0.097639 0.88406 0.62369 0.487112 0.674314 0 NA NA 2.06933e-05 ENSE00002331010_024 ENSE00002331010 024 17 10366835 10367004 - 33 93 44 C T 10366948 701 57 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAAATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463630 10463631 10463631 exon 13 0.1397849 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAAATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant 38 13 1 1 1 476 588 0.8029873 0.9994617 0.9012245 0.9961109 0.9998616 0.9757677 0.8844755 0.00388914 0.00013838 -0.1727804 0.1149862 0.9979862 0.9301216 0.00201376 -0.02889713 0.03091089 FALSE FALSE 1 6.022 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs368055208 1 NA T:0 T:0.0001 TCT C,T 1.647e-05 17:10463631 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 5.243694 0.97275 0.9212 0.487112 0.9992804 0 NA NA 8.3515e-06 ENSE00002331010_025 ENSE00002331010 025 17 10366835 10367004 - 33 93 44 G T 10366955 702 50 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACACTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463637 10463638 10463638 exon 6 0.06451613 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACACTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 474 520 0.8194693 0.9975477 0.9085085 0.9961109 0.9998616 0.9757677 0.8844755 NA NA -0.1562984 0.1130722 0.9979862 0.9301216 NA -0.02161312 NA FALSE NA 0 -3.643 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs565511405 1 T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 GGG G,T 2.471e-05 17:10463638 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 synonymous_variant 0.335684 0.75911 0.09759 0.487112 0.7708344 0 NA NA 1.68193e-05 ENSE00002331010_026 ENSE00002331010 026 17 10366835 10367004 - 33 93 44 G A 10366956 703 49 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGATCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463638 10463639 10463639 exon 5 0.05376344 TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGATCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 311 857 1 0.825647 0.9128235 0.9961109 0.9998616 0.9757677 0.8844755 NA NA 0.02423226 -0.05882855 0.9979862 0.9301216 NA -0.01729814 NA FALSE NA 1 9.778 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA GGT G,A 8.237e-06 17:10463639 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 missense_variant 6.146362 0.97318 0.95882 0.487112 0.9989254 0 NA NA NA ENSE00002331010_027 ENSE00002331010 027 17 10366835 10367004 - 33 93 44 G T 10366973 704 32 TACTGCAACTTTTTTCTTTGTCTGTCTTATTAATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC 10463517 10463687 10463655 10463656 10463656 upstr_intron -13 -0.2727273 TACTGCAACTTTTTTCTTTGTCTGTCTTATTAATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC TACTGCAACTTTTTTCTTTGTCTGTCTTATTCATTTCTCTTAAGGGGACCCTTGAAGATCAAATCATCAGTGCTAACCCCCTACTGGAAGCCTTCGGCAATGCCAAGACCGTGAGGAATGACAACTCCTCTCGCTTTGTAAGTCTCTTGATCTTCATTTTCTTGAGGATC mutant NA NA NA NA NA 2727 615 0.9441678 0.9958957 0.9700318 0.9961109 0.9998616 0.9757677 0.8844755 NA NA -0.03159995 0.1114202 0.9979862 0.9301216 NA 0.03991014 NA FALSE NA 0 -0.333 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs371883916 1 NA T:0.0002 T:0 TGA G,T 1.647e-05 17:10463656 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002331010 intron_variant 1.158565 0.22848 0.04235 0 0.6924574 0.133685 NA NA NA ENSE00002331511_001 ENSE00002331511 001 17 38793705 38793874 - 39 81 50 C T 38793716 1750 159 GACAGTGTCCTTACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637463 40637464 40637464 downstr_intron 28 1.736842 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTAAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant 24 27 0.9978969 0.9991259 0.9985114 273 285 1 1 1 0.995483 0.9940998 0.9535844 0.9900255 0.002413874 0.005026079 0.04641555 0.00997451 0.9947914 0.971805 0.003719977 0.02819503 0.02447505 FALSE FALSE 0.256 0.769 . intron_variant MODIFIER SMARCE1 HGNC 11109 ENST00000582955 5/6 1 NA TCA C,T 8.237e-06 17:40637464 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 intron_variant 0.384421 0.32396 0.06724 0.099367 0.5993957 0.0455939 0.9981881 TRUE 4.06573e-06 ENSE00002331511_005 ENSE00002331511 005 17 38793705 38793874 - 39 81 50 C T 38793789 1754 86 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGTTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637536 40637537 40637537 exon 36 0.4444444 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAACCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant NA NA NA NA NA 409 779 0.9736755 0.9993905 0.986533 0.995483 0.9940998 0.9535844 0.9900255 NA NA 0.02009103 0.009364962 0.9947914 0.971805 NA 0.014728 NA FALSE NA 1 1.584 . synonymous_variant LOW SMARCE1 HGNC 11109 ENST00000582955 5/7 1 NA GCT C,T 8.237e-06 17:40637537 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 missense_variant 2.060088 0.98988 0.94326 0.706548 0.9465779 0 0.9981881 TRUE 4.06263e-06 ENSE00002331511_006 ENSE00002331511 006 17 38793705 38793874 - 39 81 50 C T 38793807 1755 68 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATTGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637554 40637555 40637555 exon 18 0.2222222 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACAATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant 13 21 0.9771057 0.85 0.9135528 NA NA NA NA NA 0.995483 0.9940998 0.9535844 0.9900255 -0.01837734 -0.1440998 NA NA 0.9947914 0.971805 -0.08123858 NA NA NA FALSE 1 0.468 . synonymous_variant LOW SMARCE1 HGNC 11109 ENST00000582955 5/7 rs201976136 1 NA TCG C,T 1.647e-05 17:40637555 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 missense_variant 2.2679 0.97279 0.84003 0.706548 0.9611256 0 0.9981881 TRUE 2.03135e-05 ENSE00002331511_007 ENSE00002331511 007 17 38793705 38793874 - 39 81 50 A G 38793813 1756 62 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATGCCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637560 40637561 40637561 exon 12 0.1481481 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGCATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant 13 34 1 0.999847 0.9999235 296 64 1 1 1 0.995483 0.9940998 0.9535844 0.9900255 0.004516971 0.005747137 0.04641555 0.00997451 0.9947914 0.971805 0.005132054 0.02819503 0.02306298 FALSE FALSE 1 0.619 . synonymous_variant LOW SMARCE1 HGNC 11109 ENST00000582955 5/7 1 NA TAC A,G 1.647e-05 17:40637561 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 missense_variant 0.547051 0.97422 0.87538 0.706548 0.9623093 0 0.9981881 TRUE 1.21883e-05 ENSE00002331511_010 ENSE00002331511 010 17 38793705 38793874 - 39 81 50 G A 38793829 1759 46 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACAAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637576 40637577 40637577 upstr_intron -5 -0.08 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTTGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant 15 25 1 1 1 1224 522 0.9946735 0.9951212 0.9948973 0.995483 0.9940998 0.9535844 0.9900255 0.004516971 0.005900179 0.04108909 0.005095661 0.9947914 0.971805 0.005208575 0.02309238 0.0178838 FALSE FALSE 0.797 1.493 . splice_region_variant&intron_variant LOW SMARCE1 HGNC 11109 ENST00000582955 4/6 1 NA CGA G,A 8.237e-06 17:40637577 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 splice_region_variant 1.475906 0.72276 0.24609 0.099367 0.8254732 0.506764 0.9981881 TRUE 2.43849e-05 ENSE00002331511_011 ENSE00002331511 011 17 38793705 38793874 - 39 81 50 A G 38793830 1760 45 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGGAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637577 40637578 40637578 upstr_intron -6 -0.1 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTCCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant 53 63 0.994033 0.9982985 0.9961658 NA NA NA NA NA 0.995483 0.9940998 0.9535844 0.9900255 -0.00144998 0.004198669 NA NA 0.9947914 0.971805 0.001374344 NA NA NA FALSE 0.974 2.855 . splice_region_variant&intron_variant LOW SMARCE1 HGNC 11109 ENST00000582955 4/6 1 NA GAA A,G 2.471e-05 17:40637578 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 splice_region_variant 1.666278 0.98134 0.92514 0.099367 0.9032193 0.877205 0.9981881 TRUE 3.25119e-05 ENSE00002331511_012 ENSE00002331511 012 17 38793705 38793874 - 39 81 50 C T 38793843 1761 32 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATATATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637590 40637591 40637591 upstr_intron -19 -0.36 CCAGTGAACTCCTTACAGTTGAATAATGAATATATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant NA NA NA NA NA 638 25 0.9978312 0.998463 0.9981471 0.995483 0.9940998 0.9535844 0.9900255 NA NA 0.04424674 0.008437559 0.9947914 0.971805 NA 0.02634215 NA FALSE NA 0.001 0.045 . intron_variant MODIFIER SMARCE1 HGNC 11109 ENST00000582955 4/6 1 NA ACA C,T 8.237e-06 17:40637591 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 non_coding_transcript_exon_variant 1.287808 0.34649 0.09626 0.099367 0.7469952 0.310989 0.9981881 TRUE 4.06643e-06 ENSE00002333549_007 ENSE00002333549 007 1 19237845 19238014 - 33 93 44 C T 19237989 521 26 CTCACGAGTGGGCTCCACGTCCCGAGCCCTCACCTCGATCTGACCTATCGTTTCCTGGTACTCCTTGTCTCTCGTCTTGAAGAAGGATTCGGTCTCATGGATCAAGTTGCCCAAGTTTTCCTCTTGCTGGGGAAATAGAACAAATGGGACAGTTTATTTTATTTATTTAT 18911350 18911520 18911494 18911495 18911495 upstr_intron -19 -0.4090909 ATAAATAAATAAAATAAACTGTCCCATTTGTTCTATTTCCCCAGCAAGAGGAAAACTTGGGCAACTTGATCCATGAGACCGAATCCTTCTTCAAGACGAGAGACAAGGAGTACCAGGAAACGATAGGTCAGATCGAGGTGAGGGCTCGGGACGTGGAGCCCACTCGTGAG ATAAATAAATAAAATAAACTGTCCCGTTTGTTCTATTTCCCCAGCAAGAGGAAAACTTGGGCAACTTGATCCATGAGACCGAATCCTTCTTCAAGACGAGAGACAAGGAGTACCAGGAAACGATAGGTCAGATCGAGGTGAGGGCTCGGGACGTGGAGCCCACTCGTGAG mutant NA NA NA NA NA 79 44 1 1 1 NA NA 0.9794119 0.9908078 NA NA 0.02058806 0.009192249 NA 0.9851098 NA 0.01489015 NA FALSE NA 0.14 -0.744 . intron_variant MODIFIER IFFO2 HGNC 27006 ENST00000455833 6/8 1 NA ACG G,T 4.146e-05 1:18911495 IFFO2 HGNC Symbol protein_coding 52405 ENSG00000169991 ENSE00003636774 intron_variant -0.09407 0.14689 0.01497 0.062308 0.7821106 0.0465985 0.3825839 FALSE 4.8765e-05 ENSE00002337775_001 ENSE00002337775 001 2 71185135 71185304 + 41 99 30 C G 71185149 1524 15 TCCAGTCTCACTGTGACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958018 70958019 70958019 upstr_intron -27 -0.6341463 TCCAGTCTCACTGTGACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 238 65 1 1 1 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.158057 0.2307706 0.918224 0.8055862 NA 0.1944138 NA FALSE NA 0 -0.49 rs144687808 intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA TCA C,G 4.119e-05 2:70958019 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 non_coding_transcript_exon_variant 0.575006 0.31047 0.15011 0.095506 0.569118 0.123432 NA NA 2.98576e-05 ENSE00002337775_003 ENSE00002337775 003 2 71185135 71185304 + 41 99 30 C A 71185156 1526 22 TCCAGTCTCACTGTCACGTGGATGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958025 70958026 70958026 upstr_intron -20 -0.4634146 TCCAGTCTCACTGTCACGTGGATGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 1450 265 0.9975975 0.9992583 0.9984279 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.1556544 0.2300289 0.918224 0.8055862 NA 0.1928417 NA FALSE NA 0 -0.427 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA GCT C,A 8.237e-06 2:70958026 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 non_coding_transcript_exon_variant 0.433889 0.25012 0.08133 0.095506 0.7087066 0.164865 NA NA 8.34759e-06 ENSE00002337775_004 ENSE00002337775 004 2 71185135 71185304 + 41 99 30 T C 71185160 1527 26 TCCAGTCTCACTGTCACGTGGCTGCCCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958029 70958030 70958030 upstr_intron -16 -0.3658537 TCCAGTCTCACTGTCACGTGGCTGCCCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 81 918 0.9899288 0.8045664 0.8972476 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.1479858 0.03533705 0.918224 0.8055862 NA 0.0916614 NA FALSE NA 0.035 0.062 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA CTC T,C 0.0001565 2:70958030 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 non_coding_transcript_exon_variant 0.067253 0.33797 0.11723 0.095506 0.6755852 0.136931 NA NA 0.000119798 ENSE00002337775_006 ENSE00002337775 006 2 71185135 71185304 + 41 99 30 C T 71185166 1529 32 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCTTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958035 70958036 70958036 upstr_intron -10 -0.2195122 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCTTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 26 683 1 0.9926523 0.9963261 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.158057 0.2234229 0.918224 0.8055862 NA 0.1907399 NA FALSE NA 0 -0.45 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA CCT C,T 8.236e-06 2:70958036 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 non_coding_transcript_exon_variant 0.725781 0.25028 0.03444 0.095506 0.7597248 0.201185 NA NA 8.20022e-06 ENSE00002337775_007 ENSE00002337775 007 2 71185135 71185304 + 41 99 30 T G 71185170 1530 36 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCGGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958039 70958040 70958040 upstr_intron -6 -0.1219512 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCGGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 123 638 0.8665423 0.9569676 0.9117549 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.02459925 0.1877382 0.918224 0.8055862 NA 0.1061687 NA FALSE NA 0 0.357 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA CTG T,G 4.118e-05 2:70958040 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 splice_region_variant 0.454663 0.2905 0.20693 0.095506 0.702385 0.22107 NA NA 2.86081e-05 ENSE00002337775_012 ENSE00002337775 012 2 71185135 71185304 + 41 99 30 C A 71185196 1535 62 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATAGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958065 70958066 70958066 exon 21 0.2121212 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATAGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 75 15 0.1687598 0.02540341 0.09708161 0.8507395 0.9857084 0.841943 0.7692294 NA NA -0.6731832 -0.743826 0.918224 0.8055862 NA -0.7085046 NA TRUE NA 0.013 -1.117 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA TCG C,A 8.236e-06 2:70958066 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 synonymous_variant 3.087915 0.84556 0.33883 0.59774 0.839221 0 NA NA NA ENSE00002337775_014 ENSE00002337775 014 2 71185135 71185304 + 41 99 30 T C 71185198 1537 64 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGCCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958067 70958068 70958068 exon 23 0.2323232 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGCCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 91 350 0.8484729 0.8 0.8242364 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.006529843 0.03077061 0.918224 0.8055862 NA 0.01865023 NA FALSE NA 1 7.46 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 COSM4095389 1 NA GTC T,C 8.236e-06 2:70958068 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 missense_variant 5.564908 0.97013 0.96577 0.59774 0.9986824 0 NA NA 4.06871e-06 ENSE00002337775_015 ENSE00002337775 015 2 71185135 71185304 + 41 99 30 C T 71185205 1538 71 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTTACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958074 70958075 70958075 exon 30 0.3030303 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTTACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 49 142 0.7578671 0.8 0.7789336 0.8507395 0.9857084 0.841943 0.7692294 NA NA -0.08407589 0.03077061 0.918224 0.8055862 NA -0.02665264 NA FALSE NA 0.574 -0.523 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA TCA C,T 1.647e-05 2:70958075 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 synonymous_variant 1.51837 0.91533 0.4176 0.59774 0.8526916 0 NA NA 8.1365e-06 ENSE00002337775_016 ENSE00002337775 016 2 71185135 71185304 + 41 99 30 C T 71185207 1539 73 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCATCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958076 70958077 70958077 exon 32 0.3232323 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCATCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 507 104 0.9942051 0.9894667 0.9918359 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.1522621 0.2202373 0.918224 0.8055862 NA 0.1862497 NA FALSE NA 0.998 3.655 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA ACC C,T 8.236e-06 2:70958077 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 missense_variant 5.06258 0.97526 0.92225 0.59774 0.9980207 0 NA NA 1.22052e-05 ENSE00002337775_019 ENSE00002337775 019 2 71185135 71185304 + 41 99 30 T C 71185223 1542 89 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACCCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958092 70958093 70958093 exon 48 0.4848485 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACCCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 23 12 1 1 1 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.158057 0.2307706 0.918224 0.8055862 NA 0.1944138 NA FALSE NA 0.895 0.221 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA CTC T,C 8.236e-06 2:70958093 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 synonymous_variant 0.461098 0.92998 0.55816 0.59774 0.8346084 0 NA NA 8.13597e-06 ENSE00002337775_024 ENSE00002337775 024 2 71185135 71185304 + 41 99 30 G A 71185235 1547 101 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGACAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958104 70958105 70958105 exon -40 0.6060606 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGACAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 136 86 0.9850809 0.9481032 0.9665921 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.1431379 0.1788738 0.918224 0.8055862 NA 0.1610059 NA FALSE NA 0.995 0.037 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA GGC G,A 8.236e-06 2:70958105 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 synonymous_variant 1.033891 0.87109 0.69241 0.59774 0.8602162 0 NA NA 8.14226e-06 ENSE00002337775_025 ENSE00002337775 025 2 71185135 71185304 + 41 99 30 C A 71185236 1548 102 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGAAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958105 70958106 70958106 exon -39 0.6161616 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGAAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 442 275 0.8058173 1 0.9029087 0.8507395 0.9857084 0.841943 0.7692294 NA NA -0.03612571 0.2307706 0.918224 0.8055862 NA 0.09732245 NA FALSE NA 1 4.498 rs140341636 intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA GCA C,A 1.647e-05 2:70958106 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 missense_variant 3.263385 0.97201 0.9234 0.59774 0.9857189 0 NA NA NA ENSE00002337775_029 ENSE00002337775 029 2 71185135 71185304 + 41 99 30 G A 71185281 1552 147 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTAGGGTCAATGGGACATTGGCTAGT 70958004 70958174 70958150 70958151 70958151 downstr_intron 7 1.241379 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTAGGGTCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 235 155 0.9569285 0.9482214 0.952575 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.1149854 0.1789921 0.918224 0.8055862 NA 0.1469887 NA FALSE NA 0.042 0.698 . intron_variant&NMD_transcript_variant MODIFIER AC007040.11 Clone_based_vega_gene NA ENST00000453130 2/3 1 NA TGG G,A 3.295e-05 2:70958151 AC007040.2 Clone-based (Ensembl) gene protein_coding 56018 ENSG00000258881 ENSE00003476362 splice_region_variant 0.629881 0.5963 0.1398 0.095506 0.8924551 0.212379 NA NA 1.63846e-05 ENSE00002340960_004 ENSE00002340960 004 15 65214079 65214248 + 41 99 30 C T 65214113 1395 35 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTTCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC 64921879 64922049 64921913 64921914 64921914 upstr_intron -7 -0.1463415 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTTCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC mutant NA NA NA NA NA 796 137 1 0.9786336 0.9893168 NA NA 0.5895091 0.7724908 NA NA 0.4104909 0.2061427 NA 0.681 NA 0.3083168 NA FALSE NA 0.995 0.577 rs115268452 splice_region_variant&intron_variant LOW ANKDD1A HGNC 28002 ENST00000395720 3/14 rs115268452 1 T:0.0250 T:0.0877 T:0.0086 NA T:0.002 T:0.001 T:0 T:0.0786 T:0.0007 TCC C,T 0.007182 15:64921914 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003634285 splice_region_variant 1.733665 0.94499 0.35239 0.126639 0.7244332 0.572888 1.161072e-15 FALSE 0.00606563 ENSE00002340960_006 ENSE00002340960 006 15 65214079 65214248 + 41 99 30 C T 65214133 1397 55 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGTGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC 64921879 64922049 64921933 64921934 64921934 exon 14 0.1414141 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGTGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC mutant NA NA NA NA NA 62 411 0.9003725 0.8 0.8501862 NA NA 0.5895091 0.7724908 NA NA 0.3108634 0.02750915 NA 0.681 NA 0.1691863 NA FALSE NA 0.958 2.222 rs145919740 missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 4/15 rs145919740 1 benign(0.128) NA T:0 T:0.0001 GCG C,T 4.942e-05 15:64921934 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003634285 missense_variant 5.751924 0.19516 0.2912 0.713056 0.9979632 0 1.161072e-15 FALSE 3.6561e-05 ENSE00002340960_014 ENSE00002340960 014 15 65214079 65214248 + 41 99 30 C T 65214159 1405 81 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCTACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC 64921879 64922049 64921959 64921960 64921960 exon 40 0.4040404 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCTACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC mutant NA NA NA NA NA 33 142 1 0.9858707 0.9929353 NA NA 0.5895091 0.7724908 NA NA 0.4104909 0.2133799 NA 0.681 NA 0.3119354 NA FALSE NA 1 5.493 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 4/15 1 probably_damaging(0.986) NA CCA C,T 8.236e-06 15:64921960 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003634285 missense_variant 4.923904 0.97529 0.87624 0.615465 0.9975746 0 1.161072e-15 FALSE 4.06144e-06 ENSE00002340960_015 ENSE00002340960 015 15 65214079 65214248 + 41 99 30 C A 65214161 1406 83 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCAATTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC 64921879 64922049 64921961 64921962 64921962 exon 42 0.4242424 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCAATTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC mutant NA NA NA NA NA 19 492 0.8 0.9992227 0.8996114 NA NA 0.5895091 0.7724908 NA NA 0.2104909 0.2267319 NA 0.681 NA 0.2186114 NA FALSE NA 1 2.228 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 4/15 1 probably_damaging(0.991) NA ACT C,A 8.236e-06 15:64921962 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003634285 missense_variant 5.688097 0.91341 0.716 0.615465 0.9913217 0 1.161072e-15 FALSE 4.06151e-06 ENSE00002340960_018 ENSE00002340960 018 15 65214079 65214248 + 41 99 30 G A 65214166 1409 88 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACAAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC 64921879 64922049 64921966 64921967 64921967 exon 47 0.4747475 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACAAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC mutant NA NA NA NA NA 115 124 0.8 0.8 0.8 NA NA 0.5895091 0.7724908 NA NA 0.2104909 0.02750915 NA 0.681 NA 0.119 NA FALSE NA 0 -0.234 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 4/15 rs201916280 1 benign(0.022) A:0.0004 A:0.0015 A:0 NA A:0 A:0 A:0 CGA G,A 3.295e-05 15:64921967 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003634285 missense_variant 3.802089 0.12281 0.01274 0.615465 0.9978774 0 1.161072e-15 FALSE 2.84336e-05 ENSE00002340960_023 ENSE00002340960 023 15 65214079 65214248 + 41 99 30 G A 65214195 1414 117 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGACCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC 64921879 64922049 64921995 64921996 64921996 exon -24 0.7676768 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGACCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC mutant NA NA NA NA NA 471 155 0.9919678 0.9987305 0.9953491 NA NA 0.5895091 0.7724908 NA NA 0.4024587 0.2262396 NA 0.681 NA 0.3143492 NA FALSE NA 1 6.915 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 4/15 1 probably_damaging(0.991) NA GGC G,A 3.295e-05 15:64921996 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003634285 missense_variant 6.568176 0.97616 0.9219 0.615465 0.9992723 0 1.161072e-15 FALSE 1.62534e-05 ENSE00002340960_027 ENSE00002340960 027 15 65214079 65214248 + 41 99 30 G T 65214224 1418 146 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGTCCTCAGCTGGTAGACCCCTGTCCC 64921879 64922049 64922024 64922025 64922025 downstr_intron 6 1.206897 TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGTCCTCAGCTGGTAGACCCCTGTCCC TTCCCACATTCTTCTCACCTCCTCTATGTCCTCTCCCCTAGTTTGGGATGAATGCGCTTCTCCTGTCTGCCTGGTTCGGCCACTTACGAATCCTCCAGATCTTGGTAAACTCAGGGGCCAAGATCCACTGTGAGAGCAAGGTAAGGCCTCAGCTGGTAGACCCCTGTCCC mutant NA NA NA NA NA 306 13 1 0.8111383 0.9055691 NA NA 0.5895091 0.7724908 NA NA 0.4104909 0.03864744 NA 0.681 NA 0.2245692 NA FALSE NA 0.068 0.095 . splice_region_variant&intron_variant LOW ANKDD1A HGNC 28002 ENST00000395720 4/14 1 NA GGC G,T 8.236e-06 15:64922025 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003634285 splice_region_variant 1.17287 0.45696 0.04072 0.149833 0.8132036 0.217363 1.161072e-15 FALSE 8.14903e-06 ENSE00002341144_001 ENSE00002341144 001 2 178528556 178528725 - 38 84 48 G A 178528570 3310 156 AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTGATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTATATGTTCTGACTGAA 177663827 177663997 177663841 177663842 177663842 downstr_intron 24 1.648649 AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTGATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTATATGTTCTGACTGAA AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTGATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTACATGTTCTGACTGAA mutant NA NA NA NA NA 454 124 0.9999093 1 0.9999547 0.948396 0.9641937 0.7402734 0.8701098 NA NA 0.2596359 0.1298902 0.9562948 0.8051916 NA 0.1947631 NA FALSE NA 0 -2.379 . intron_variant MODIFIER PDE11A HGNC 8773 ENST00000358450 20/20 1 NA TGT G,A 8.237e-06 2:177663842 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003813579 intron_variant -0.069514 0.1054 0.00897 0.06567 0.6089034 0.0436289 4.16725e-31 FALSE 4.07266e-06 ENSE00002341144_025 ENSE00002341144 025 2 178528556 178528725 - 38 84 48 C A 178528668 3334 58 AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTTATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTACATGTTCTGACTGAA 177663827 177663997 177663939 177663940 177663940 exon 10 0.1190476 AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTTATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTACATGTTCTGACTGAA AAATACTTTGGTGTAATAAAGCGAGGTTCTTCCTGCCCCCCATTCTAGGCAATTTTTGATCGGAACCGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTGTATCAGGTACTTTGATTTGGGAGGGCCTACATGTTCTGACTGAA mutant NA NA NA NA NA 1185 426 0.9971875 0.9996286 0.998408 0.948396 0.9641937 0.7402734 0.8701098 NA NA 0.2569141 0.1295188 0.9562948 0.8051916 NA 0.1932164 NA FALSE NA 1 6.696 . missense_variant MODERATE PDE11A HGNC 8773 ENST00000358450 20/21 1 deleterious(0) probably_damaging(0.992) NA TCA C,A 8.237e-06 2:177663940 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003813579 missense_variant 7.196311 0.99335 0.97851 0.549168 0.9948394 0 4.16725e-31 FALSE 2.44e-05 ENSE00002344200_001 ENSE00002344200 001 2 220367044 220367213 + 60 60 50 C G 220367056 4794 13 AAACAGACGTGGGTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502333 219502334 219502334 upstr_intron -48 -0.7833333 AAACAGACGTGGGTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 767 84 1 0.9187078 0.9593539 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 -0.07927439 0.9922125 0.9941337 NA -0.03477977 NA FALSE NA 0 1.267 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA GCT C,G 8.237e-06 2:219502334 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 0.525035 0.2417 0.25541 0.092769 0.6304819 0.303782 2.352374e-06 FALSE 4.08677e-06 ENSE00002344200_005 ENSE00002344200 005 2 220367044 220367213 + 60 60 50 A G 220367068 4798 25 AAACAGACGTGGCTGCCCTGGAGCGGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502345 219502346 219502346 upstr_intron -36 -0.5833333 AAACAGACGTGGCTGCCCTGGAGCGGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 710 171 0.9962303 1 0.9981151 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.005945142 0.002017827 0.9922125 0.9941337 NA 0.003981484 NA FALSE NA 0 -0.272 rs188637221 upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 rs188637221 1 G:0.0030 G:0 G:0.0058 NA G:0 G:0.007 G:0.0041 G:0.0007 G:0.0088 CAG A,G 0.005798 2:219502346 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.382142 0.19096 0.05194 0.092769 0.6530328 0.339252 2.352374e-06 FALSE 0.00558664 ENSE00002344200_006 ENSE00002344200 006 2 220367044 220367213 + 60 60 50 C T 220367071 4799 28 AAACAGACGTGGCTGCCCTGGAGCAGGTGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502348 219502349 219502349 upstr_intron -33 -0.5333333 AAACAGACGTGGCTGCCCTGGAGCAGGTGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 604 434 1 0.9931988 0.9965994 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 -0.00478334 0.9922125 0.9941337 NA 0.002465757 NA FALSE NA 0 -0.02 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA GCG C,T 8.236e-06 2:219502349 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.588482 0.22608 0.07355 0.184171 0.8427333 0.769703 2.352374e-06 FALSE 1.63035e-05 ENSE00002344200_007 ENSE00002344200 007 2 220367044 220367213 + 60 60 50 G A 220367072 4800 29 AAACAGACGTGGCTGCCCTGGAGCAGGCAGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502349 219502350 219502350 upstr_intron -32 -0.5166667 AAACAGACGTGGCTGCCCTGGAGCAGGCAGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 666 651 0.9996906 0.9994551 0.9995729 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009405484 0.001472946 0.9922125 0.9941337 NA 0.005439215 NA FALSE NA 0 -4.454 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA CGG G,A 8.236e-06 2:219502350 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 0.698751 0.05048 0.0012 0.184171 0.9344137 0.339252 2.352374e-06 FALSE 2.44439e-05 ENSE00002344200_008 ENSE00002344200 008 2 220367044 220367213 + 60 60 50 G A 220367074 4801 31 AAACAGACGTGGCTGCCCTGGAGCAGGCGGATCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502351 219502352 219502352 upstr_intron -30 -0.4833333 AAACAGACGTGGCTGCCCTGGAGCAGGCGGATCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 127 316 1 0.996555 0.9982775 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 -0.001427196 0.9922125 0.9941337 NA 0.004143829 NA FALSE NA 0.133 1.468 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA GGT G,A 1.647e-05 2:219502352 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.880815 0.94434 0.31721 0.184171 0.8053831 0.816028 2.352374e-06 FALSE 1.62819e-05 ENSE00002344200_010 ENSE00002344200 010 2 220367044 220367213 + 60 60 50 C T 220367084 4803 41 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTTGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502361 219502362 219502362 upstr_intron -20 -0.3166667 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTTGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 64 914 1 0.999373 0.9996865 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 0.001390807 0.9922125 0.9941337 NA 0.00555283 NA FALSE NA 0 -0.555 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA TCG C,T 8.237e-06 2:219502362 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.172348 0.06961 0.01276 0.184171 0.9365061 0.284446 2.352374e-06 FALSE 8.13756e-06 ENSE00002344200_013 ENSE00002344200 013 2 220367044 220367213 + 60 60 50 T C 220367094 4806 51 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCCGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502371 219502372 219502372 upstr_intron -10 -0.15 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCCGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 62 388 0.810899 0.8 0.8054495 0.9902642 0.9941607 0.9902851 0.9979822 NA NA -0.1793861 -0.1979822 0.9922125 0.9941337 NA -0.1886841 NA FALSE NA 0.993 1.398 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA CTG T,C 8.236e-06 2:219502372 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 3.019177 0.95489 0.76596 0.184171 0.8184274 0.53319 2.352374e-06 FALSE 4.06408e-06 ENSE00002344200_014 ENSE00002344200 014 2 220367044 220367213 + 60 60 50 T G 220367099 4807 56 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTGTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502376 219502377 219502377 upstr_intron -5 -0.06666667 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTGTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 50 850 0.006071779 0 0.003035889 0.9902642 0.9941607 0.9902851 0.9979822 NA NA -0.9842134 -0.9979822 0.9922125 0.9941337 NA -0.9910978 NA TRUE NA 0.892 0.863 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA TTT T,G 1.647e-05 2:219502377 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 splice_region_variant 1.922446 0.95599 0.91469 0.184171 0.8713729 0.513807 2.352374e-06 FALSE 8.12618e-06 ENSE00002344200_015 ENSE00002344200 015 2 220367044 220367213 + 60 60 50 C T 220367114 4808 71 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGATGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502391 219502392 219502392 exon 11 0.1833333 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGATGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 750 1573 0.9988025 0.9943637 0.9965831 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.008517401 -0.003618498 0.9922125 0.9941337 NA 0.002449452 NA FALSE NA 0.308 0.879 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA ACG C,T 1.647e-05 2:219502392 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 missense_variant 6.087249 0.75164 0.44606 0.706298 0.9984343 0 2.352374e-06 FALSE 3.65613e-05 ENSE00002344200_018 ENSE00002344200 018 2 220367044 220367213 + 60 60 50 C T 220367121 4811 78 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCTCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502398 219502399 219502399 exon 18 0.3 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCTCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 52 614 1 0.9983011 0.9991505 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 0.000318896 0.9922125 0.9941337 NA 0.005016875 NA FALSE NA 0.946 -0.012 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA CCC C,T 4.118e-05 2:219502399 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 synonymous_variant 2.273738 0.95558 0.66262 0.706298 0.9155949 0 2.352374e-06 FALSE 5.2806e-05 ENSE00002344200_019 ENSE00002344200 019 2 220367044 220367213 + 60 60 50 C T 220367130 4812 87 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTATGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502407 219502408 219502408 exon 27 0.45 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTATGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 494 2076 1 0.99642 0.99821 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 -0.001562208 0.9922125 0.9941337 NA 0.004076323 NA FALSE NA 0.001 -2.188 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 rs373608260 1 NA T:0.0002 T:0 ACG C,T 4.942e-05 2:219502408 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 synonymous_variant 1.909689 0.9418 0.0314 0.706298 0.8992642 0 2.352374e-06 FALSE 4.06296e-05 ENSE00002344200_024 ENSE00002344200 024 2 220367044 220367213 + 60 60 50 G A 220367143 4817 100 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTAAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502420 219502421 219502421 exon -21 0.6666667 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTAAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 918 31 0.9970953 1 0.9985476 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.00681011 0.002017827 0.9922125 0.9941337 NA 0.004413969 NA FALSE NA 1 9.072 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA TGA G,A 8.236e-06 2:219502421 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 missense_variant 4.803089 0.99019 0.99185 0.706298 0.9967217 0 2.352374e-06 FALSE 4.06329e-06 ENSE00002344200_025 ENSE00002344200 025 2 220367044 220367213 + 60 60 50 A G 220367153 4818 110 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACGGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502430 219502431 219502431 exon -11 0.8333333 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACGGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 1100 322 0.9990234 0.9980303 0.9985268 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.008738253 4.80915e-05 0.9922125 0.9941337 NA 0.004393172 NA FALSE NA 1 5.489 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA CAG A,G 1.647e-05 2:219502431 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 missense_variant 1.907351 0.97924 0.96636 0.706298 0.9834741 0 2.352374e-06 FALSE 2.03212e-05 ENSE00002344200_026 ENSE00002344200 026 2 220367044 220367213 + 60 60 50 A C 220367157 4819 114 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACCCACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502434 219502435 219502435 exon -7 0.9 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACCCACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 325 468 0.9992378 0.9909782 0.995108 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.008952612 -0.007004022 0.9922125 0.9941337 NA 0.0009742948 NA FALSE NA 0 -3.726 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA CAC A,C 1.647e-05 2:219502435 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 synonymous_variant -0.89619 0.78963 0.09667 0.706298 0.6264838 0 2.352374e-06 FALSE 1.21927e-05 ENSE00002344200_029 ENSE00002344200 029 2 220367044 220367213 + 60 60 50 A T 220367167 4822 124 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGTGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502444 219502445 219502445 downstr_intron 4 1.081633 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGTGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 701 149 0.8 0.8016945 0.8008472 0.9902642 0.9941607 0.9902851 0.9979822 NA NA -0.1902851 -0.1962877 0.9922125 0.9941337 NA -0.1932864 NA FALSE NA 1 3.893 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 1 NA GAG A,T 3.295e-05 2:219502445 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 splice_region_variant 1.24073 0.45052 0.86847 0.062308 0.8787165 0.28574 2.352374e-06 FALSE 3.66023e-05 ENSE00002344200_030 ENSE00002344200 030 2 220367044 220367213 + 60 60 50 G T 220367177 4823 134 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTTGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502454 219502455 219502455 downstr_intron 14 1.285714 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTTGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 42 696 0.9525009 0.9203805 0.9364407 0.9902642 0.9941607 0.9902851 0.9979822 NA NA -0.03778429 -0.0776017 0.9922125 0.9941337 NA -0.057693 NA FALSE NA 0 -0.132 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 rs369333044 1 NA C:0.0002 C:0 TGG G,T 8.237e-06 2:219502455 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.055545 0.16033 0.02418 0.062308 0.9317094 0.125436 2.352374e-06 FALSE 4.07286e-06 ENSE00002344200_031 ENSE00002344200 031 2 220367044 220367213 + 60 60 50 G A 220367179 4824 136 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGAGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502456 219502457 219502457 downstr_intron 16 1.326531 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGAGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 214 93 1 1 1 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 0.002017827 0.9922125 0.9941337 NA 0.005866341 NA FALSE NA 0.001 -0.089 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 rs202131537 1 A:0.0004 A:0 A:0.0029 NA A:0 A:0 A:0 A:0 A:0.0019 GGG G,A 0.0008978 2:219502457 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.322519 0.13235 0.04728 0.062308 0.9267599 0.180195 2.352374e-06 FALSE 0.00128842 ENSE00002344200_032 ENSE00002344200 032 2 220367044 220367213 + 60 60 50 C T 220367182 4825 139 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGTTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502459 219502460 219502460 downstr_intron 19 1.387755 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGTTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 504 436 1 1 1 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 0.002017827 0.9922125 0.9941337 NA 0.005866341 NA FALSE NA 0.015 1.262 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 rs376754120 1 NA T:0 T:0.0001 GCT C,T 4.942e-05 2:219502460 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.693487 0.22982 0.18783 0.062308 0.9203696 0.125436 2.352374e-06 FALSE 2.44792e-05 ENSE00002344200_033 ENSE00002344200 033 2 220367044 220367213 + 60 60 50 G A 220367188 4826 145 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTAGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502465 219502466 219502466 downstr_intron 25 1.510204 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTAGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 188 213 0.9490493 1 0.9745247 0.9902642 0.9941607 0.9902851 0.9979822 NA NA -0.0412358 0.002017827 0.9922125 0.9941337 NA -0.01960899 NA FALSE NA 0.002 0.384 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 rs201211438 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0 A:0.0001 TGG G,A 8.237e-06 2:219502466 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.317921 0.30078 0.16484 0.062308 0.9187082 0.074122 2.352374e-06 FALSE 8.19048e-06 ENSE00002344200_034 ENSE00002344200 034 2 220367044 220367213 + 60 60 50 T G 220367191 4827 148 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGGGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502468 219502469 219502469 downstr_intron 28 1.571429 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGGGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 915 489 0.9502341 1 0.975117 0.9902642 0.9941607 0.9902851 0.9979822 NA NA -0.04005106 0.002017827 0.9922125 0.9941337 NA -0.01901662 NA FALSE NA 0 -1.849 . upstream_gene_variant MODIFIER GMPPA HGNC 22923 ENST00000496536 rs535323948 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 GTG T,G 8.237e-06 2:219502469 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 0.098625 0.04875 0.03247 0.062308 0.631237 0.074122 2.352374e-06 FALSE 4.10698e-06 ENSE00002345215_003 ENSE00002345215 003 5 125813342 125813511 + 42 96 32 T C 125813389 1141 48 GCAAAGATGCCCTCGCTCGGCTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATGGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477696 126477697 126477697 exon 6 0.0625 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCCATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 266 541 0.9923437 0.9970627 0.9947032 0.9853702 0.9996398 0.9995051 0.9790358 NA NA -0.007161438 0.01802693 0.992505 0.9892704 NA 0.005432745 NA FALSE NA 0.027 -0.957 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 1 NA CTA T,C 8.236e-06 5:126477697 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 synonymous_variant 0.582443 0.86937 0.03212 0.6512 0.6542235 0 NA NA 8.12704e-06 ENSE00002345215_008 ENSE00002345215 008 5 125813342 125813511 + 42 96 32 G A 125813404 1146 63 GCAAAGATGCCCTCGCTCGGCTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACTGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477711 126477712 126477712 exon 21 0.21875 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCAGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 93 49 0.936396 0.95 0.943198 0.9853702 0.9996398 0.9995051 0.9790358 NA NA -0.06310909 -0.02903575 0.992505 0.9892704 NA -0.04607242 NA FALSE NA 0 -4.465 rs142872205 upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 rs142872205&COSM3941012 1 A:0.0012 A:0.0045 A:0 NA A:0 A:0 A:0 A:0.0048 A:0 CGG G,A 0.0006013 5:126477712 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 synonymous_variant 1.470146 0.1144 0.00838 0.6512 0.8377646 0 NA NA 0.000434825 ENSE00002345215_010 ENSE00002345215 010 5 125813342 125813511 + 42 96 32 A G 125813422 1148 81 GCAAAGATGCCCTCGCTCGGCTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTCTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477729 126477730 126477730 exon 39 0.40625 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAGACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 717 116 1 1 1 0.9853702 0.9996398 0.9995051 0.9790358 NA NA 0.0004948898 0.02096425 0.992505 0.9892704 NA 0.01072957 NA FALSE NA 1 2.193 rs115817110 upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 rs115817110 1 G:0.0084 G:0.031 G:0.0014 NA G:0 G:0 G:0 G:0.027 G:0 AAA A,G 0.002627 5:126477730 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 synonymous_variant 0.532937 0.95313 0.93369 0.6512 0.8084153 0 NA NA 0.00213726 ENSE00002345215_012 ENSE00002345215 012 5 125813342 125813511 + 42 96 32 A T 125813426 1150 85 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCTAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC 126477649 126477819 126477733 126477734 126477734 exon 43 0.4479167 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCTAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 204 102 1 1 1 0.9853702 0.9996398 0.9995051 0.9790358 NA NA 0.0004948898 0.02096425 0.992505 0.9892704 NA 0.01072957 NA FALSE NA 1 8.846 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 1 NA CAA A,T 8.236e-06 5:126477734 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 stop_gained 13.65957 0.97449 0.99127 0.6512 0.9966276 0 NA NA 4.06289e-06 ENSE00002345215_014 ENSE00002345215 014 5 125813342 125813511 + 42 96 32 A C 125813448 1152 107 GCAAAGATGCCCTCGCTCGGCTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGGTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477755 126477756 126477756 exon -32 0.6770833 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAACCGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 207 198 0.9949213 1 0.9974606 0.9853702 0.9996398 0.9995051 0.9790358 NA NA -0.004583837 0.02096425 0.992505 0.9892704 NA 0.008190205 NA FALSE NA 1 8.846 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 1 NA AAC A,C 8.236e-06 5:126477756 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 missense_variant 4.766667 0.97478 0.99172 0.706298 0.9954763 0 NA NA 4.06329e-06 ENSE00002345215_016 ENSE00002345215 016 5 125813342 125813511 + 42 96 32 C T 125813476 1154 135 GCAAAGATGCCCTCGCTCGGCTGCATACTCACCCTATCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477783 126477784 126477784 exon -4 0.96875 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGATAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 217 313 0.9826797 0.9695938 0.9761367 0.9853702 0.9996398 0.9995051 0.9790358 NA NA -0.01682546 -0.009441929 0.992505 0.9892704 NA -0.01313369 NA FALSE NA 0.033 -0.829 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 1 NA ACA C,T 8.236e-06 5:126477784 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 synonymous_variant 1.799633 0.93684 0.49297 0.615465 0.7937639 0 NA NA 4.06491e-06 ENSE00002345215_017 ENSE00002345215 017 5 125813342 125813511 + 42 96 32 G A 125813482 1155 141 GCAAAGATGCCCTCGCTCGGCTGCATACTTACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477789 126477790 126477790 downstr_intron 3 1.096774 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTAAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 703 344 0.9913463 0.9688866 0.9801164 0.9853702 0.9996398 0.9995051 0.9790358 NA NA -0.008158824 -0.01014918 0.992505 0.9892704 NA -0.009154001 NA FALSE NA 1 0.637 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 1 NA TGA G,A 8.236e-06 5:126477790 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 splice_region_variant 1.992773 0.93086 0.89482 0.126639 0.8105012 0.531364 NA NA 4.06527e-06 ENSE00002345215_018 ENSE00002345215 018 5 125813342 125813511 + 42 96 32 C T 125813492 1156 151 GCAAAGATGCCCTCGCTCGACTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477799 126477800 126477800 downstr_intron 13 1.419355 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGTCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 137 371 0.9853094 0.9922553 0.9887823 0.9853702 0.9996398 0.9995051 0.9790358 NA NA -0.01419574 0.01321957 0.992505 0.9892704 NA -0.0004880861 NA FALSE NA 0.024 0.555 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 1 NA GCC C,T 8.236e-06 5:126477800 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 intron_variant 0.977293 0.34095 0.4674 0.126639 0.7962946 0.215829 NA NA 4.06858e-06 ENSE00002345215_020 ENSE00002345215 020 5 125813342 125813511 + 42 96 32 G A 125813494 1158 153 GCAAAGATGCCCTCGCTTGGCTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477801 126477802 126477802 downstr_intron 15 1.483871 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCAAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 153 94 1 1 1 0.9853702 0.9996398 0.9995051 0.9790358 NA NA 0.0004948898 0.02096425 0.992505 0.9892704 NA 0.01072957 NA FALSE NA 0 0.071 rs190537729 upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 rs190537729 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 CGA G,A 5.765e-05 5:126477802 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 intron_variant 0.001603 0.26183 0.48837 0.126639 0.4963674 0.098485 NA NA 4.06987e-05 ENSE00002345215_021 ENSE00002345215 021 5 125813342 125813511 + 42 96 32 C A 125813497 1159 156 GCAAAGATGCCCTCTCTCGGCTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477804 126477805 126477805 downstr_intron 18 1.580645 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGAGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 87 19 1 1 1 0.9853702 0.9996398 0.9995051 0.9790358 NA NA 0.0004948898 0.02096425 0.992505 0.9892704 NA 0.01072957 NA FALSE NA 0 -2.256 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 1 NA GCG C,A 8.236e-06 5:126477805 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 intron_variant -0.066324 0.27848 0.38325 0.126639 0.5090351 0.0993691 NA NA 4.0708e-06 ENSE00002345215_022 ENSE00002345215 022 5 125813342 125813511 + 42 96 32 G A 125813498 1160 157 GCAAAGATGCCCTTGCTCGGCTGCATACTCACCCTGTCTGTGACTGTTGCTATGATCAGGGCGTTTGGCACTAGAAGAGCAGTTTTGGTTTTCTTTATTAGGGTTACCGAGAAAGCTGGAATAGAGATCTGAAACAGAATCAGCAAGTTAATGCCAGTTCAGACTTGACA 126477649 126477819 126477805 126477806 126477806 downstr_intron 19 1.612903 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCAAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 290 714 1 0.9966628 0.9983314 0.9853702 0.9996398 0.9995051 0.9790358 NA NA 0.0004948898 0.01762707 0.992505 0.9892704 NA 0.009060978 NA FALSE NA 0 -4.734 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 1 NA CGA G,A 6.589e-05 5:126477806 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 intron_variant -0.014959 0.1703 0.07866 0.126639 0.6960502 0.0993691 NA NA 5.69879e-05 ENSE00002345215_023 ENSE00002345215 023 5 125813342 125813511 + 42 96 32 A T 125813499 1161 158 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGTGGGCATCTTTGC 126477649 126477819 126477806 126477807 126477807 downstr_intron 20 1.645161 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGTGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 42 637 1 0.9978198 0.9989099 0.9853702 0.9996398 0.9995051 0.9790358 NA NA 0.0004948898 0.01878405 0.992505 0.9892704 NA 0.009639469 NA FALSE NA 0 -1.778 . upstream_gene_variant MODIFIER GRAMD3 HGNC 24911 ENST00000512579 rs376851596 1 NA T:0 T:0.0002 GAG A,T 0.0006342 5:126477807 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 intron_variant 0.249899 0.23909 0.20122 0.126639 0.7022224 0.0993691 NA NA 0.000325667 ENSE00002351718_001 ENSE00002351718 001 5 131995047 131995216 + 63 54 53 A T 131995059 1240 13 GGCTGCCAGGGCTGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT 132659354 132659524 132659366 132659367 132659367 upstr_intron -51 -0.7936508 GGCTGCCAGGGCTGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT mutant NA NA NA NA NA 35 92 1 0.9944346 0.9972173 0.9972448 0.9970488 0.9517343 0.9402879 NA NA 0.04826569 0.05414666 0.9971468 0.9460111 NA 0.05120618 NA FALSE NA 0.007 -0.525 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL13 HGNC 5973 ENST00000462480 1/3 1 NA CAG A,T 8.277e-06 5:132659367 IL13 HGNC Symbol protein_coding 4847 ENSG00000169194 ENSE00003591221 non_coding_transcript_exon_variant -0.22506 0.14487 0.00492 0.074898 0.4938345 0.0528723 0.02571469 FALSE 2.26372e-05 ENSE00002351718_005 ENSE00002351718 005 5 131995047 131995216 + 63 54 53 C T 131995111 1244 65 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGTTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT 132659354 132659524 132659418 132659419 132659419 exon 2 0.03703704 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGTTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT mutant NA NA NA NA NA 195 204 1 1 1 0.9972448 0.9970488 0.9517343 0.9402879 NA NA 0.04826569 0.05971208 0.9971468 0.9460111 NA 0.05398889 NA FALSE NA 0.006 -0.19 rs138680496 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL13 HGNC 5973 ENST00000462480 1/3 rs138680496&COSM109445 1 NA GCT C,T 1.648e-05 5:132659419 IL13 HGNC Symbol protein_coding 4847 ENSG00000169194 ENSE00003591221 missense_variant 0.055651 0.13236 0.01202 0.580535 0.9408299 0 0.02571469 FALSE 1.69355e-05 ENSE00002351718_007 ENSE00002351718 007 5 131995047 131995216 + 63 54 53 G A 131995115 1246 69 AGCCCAAGGCCTGGAGCCTCTGCCCCATCCTCCCTGCACCCAAAGGTCCTTACCATGCCAGCTGTCAGGTTGATGCTCCATACCATGCTGCCATTGCAGAGTGGAGCCTGTGGGAGCAAAGTGACAGTGAGCAGAGTGCTGGCAGGGGTTGTGGGCCTGCCCTGGCAGCC 132659354 132659524 132659422 132659423 132659423 exon 6 0.1111111 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCACTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT mutant NA NA NA NA NA 94 36 1 1 1 0.9972448 0.9970488 0.9517343 0.9402879 NA NA 0.04826569 0.05971208 0.9971468 0.9460111 NA 0.05398889 NA FALSE NA 0 -1.363 rs140369292 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL13 HGNC 5973 ENST00000462480 1/3 rs140369292 1 NA A:0 A:0.0001 CGC G,A 8.238e-05 5:132659423 IL13 HGNC Symbol protein_coding 4847 ENSG00000169194 ENSE00003591221 synonymous_variant -0.300478 0.08155 0.00561 0.580535 0.4740878 0 0.02571469 FALSE 0.00015552 ENSE00002351718_014 ENSE00002351718 014 5 131995047 131995216 + 63 54 53 T C 131995150 1253 104 AGCCCAAGGCCTGGAGCCTCTGCCCCATCCTCCCTGCACCCAAAGGTCCTTACCATGCCAGCTGTCGGGTTGATGCTCCATACCATGCTGCCATTGCAGAGCGGAGCCTGTGGGAGCAAAGTGACAGTGAGCAGAGTGCTGGCAGGGGTTGTGGGCCTGCCCTGGCAGCC 132659354 132659524 132659457 132659458 132659458 exon -14 0.7592593 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCCGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT mutant NA NA NA NA NA 240 549 1 0.9973216 0.9986608 0.9972448 0.9970488 0.9517343 0.9402879 NA NA 0.04826569 0.05703364 0.9971468 0.9460111 NA 0.05264966 NA FALSE NA 0.382 1.036 rs148077750 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL13 HGNC 5973 ENST00000462480 1/3 rs148077750 1 NA C:0 C:0.0005 CTG T,C 0.0001153 5:132659458 IL13 HGNC Symbol protein_coding 4847 ENSG00000169194 ENSE00003591221 missense_variant 4.890267 0.96968 0.27357 0.559995 0.9985633 0 0.02571469 FALSE 0.000102941 ENSE00002351718_015 ENSE00002351718 015 5 131995047 131995216 + 63 54 53 T C 131995179 1254 133 AGCCCAAGGCCTGGAGCCTCTGCCCCATCCTCCCTGCGCCCAAAGGTCCTTACCATGCCAGCTGTCAGGTTGATGCTCCATACCATGCTGCCATTGCAGAGCGGAGCCTGTGGGAGCAAAGTGACAGTGAGCAGAGTGCTGGCAGGGGTTGTGGGCCTGCCCTGGCAGCC 132659354 132659524 132659486 132659487 132659487 downstr_intron 16 1.307692 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGCGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT mutant NA NA NA NA NA 286 255 0.9991334 1 0.9995667 0.9972448 0.9970488 0.9517343 0.9402879 NA NA 0.04739912 0.05971208 0.9971468 0.9460111 NA 0.0535556 NA FALSE NA 0 -4.237 . intron_variant&non_coding_transcript_variant MODIFIER IL13 HGNC 5973 ENST00000462480 1/2 1 NA GTG T,C 8.238e-06 5:132659487 IL13 HGNC Symbol protein_coding 4847 ENSG00000169194 ENSE00003591221 intron_variant -0.099536 0.10152 0.00136 0.074388 0.5953192 0.0829013 0.02571469 FALSE 1.24475e-05 ENSE00002351718_016 ENSE00002351718 016 5 131995047 131995216 + 63 54 53 G C 131995197 1255 151 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCACAGGCTCCAGGCCTTGGGCT 132659354 132659524 132659504 132659505 132659505 downstr_intron 34 1.653846 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCACAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT mutant NA NA NA NA NA 182 50 1 0.9968237 0.9984118 0.9972448 0.9970488 0.9517343 0.9402879 NA NA 0.04826569 0.05653576 0.9971468 0.9460111 NA 0.05240072 NA FALSE NA 0.001 0.753 . intron_variant&non_coding_transcript_variant MODIFIER IL13 HGNC 5973 ENST00000462480 1/2 rs200155765 1 C:0.0012 C:0.0038 C:0.0014 NA C:0 C:0 C:0 C:0.0039 C:0 AGA G,C 0.000379 5:132659505 IL13 HGNC Symbol protein_coding 4847 ENSG00000169194 ENSE00003591221 intron_variant -0.28585 0.20457 0.06074 0.074388 0.6264876 0.0829013 0.02571469 FALSE 0.000350421 ENSE00002352137_002 ENSE00002352137 002 5 80550173 80550342 + 42 96 32 G C 80550189 757 17 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCGTCTTTAACTGGTTCAC 81254353 81254523 81254369 81254370 81254370 upstr_intron -26 -0.5952381 GTGAACCAGTTAAAGACGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 105 170 1 0.9869189 0.9934594 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.08549907 NA 0.9408029 NA 0.05265657 NA FALSE NA 0.576 0.647 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA AGG G,C 8.236e-06 5:81254370 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 intron_variant -0.06865 0.25709 0.41684 0.074636 0.215601 0.046323 7.873089e-10 FALSE 4.06339e-06 ENSE00002352137_004 ENSE00002352137 004 5 80550173 80550342 + 42 96 32 C T 80550212 759 40 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTACAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254392 81254393 81254393 upstr_intron -3 -0.04761905 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGTAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 30 198 1 0.9998076 0.9999038 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.09838775 NA 0.9408029 NA 0.05910091 NA FALSE NA 0.02 0.685 rs190871941 upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 rs190871941 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 GCA C,T 9.06e-05 5:81254393 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 splice_region_variant 1.437614 0.43864 0.08893 0.053691 0.7535963 0.144465 7.873089e-10 FALSE 6.09172e-05 ENSE00002352137_005 ENSE00002352137 005 5 80550173 80550342 + 42 96 32 G C 80550217 760 45 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAAGACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254397 81254398 81254398 exon 3 0.03125 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTCTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 74 123 1 1 1 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.09858019 NA 0.9408029 NA 0.05919713 NA FALSE NA 0.998 0.393 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA TGT G,C 8.236e-06 5:81254398 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 splice_region_variant 1.7738 0.97167 0.87491 0.554377 0.8300518 0 7.873089e-10 FALSE 4.06095e-06 ENSE00002352137_006 ENSE00002352137 006 5 80550173 80550342 + 42 96 32 C T 80550238 761 66 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACAGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254418 81254419 81254419 exon 24 0.25 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCTGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 101 494 1 1 1 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.09858019 NA 0.9408029 NA 0.05919713 NA FALSE NA 0 -2.481 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA CCG C,T 8.236e-06 5:81254419 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 synonymous_variant 2.784154 0.90375 0.03877 0.57788 0.8156882 0 7.873089e-10 FALSE 8.12143e-06 ENSE00002352137_009 ENSE00002352137 009 5 80550173 80550342 + 42 96 32 C A 80550254 764 82 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTTTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254434 81254435 81254435 exon 40 0.4166667 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGAAACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 398 362 0.9940301 0.9981925 0.9961113 NA NA 0.9801859 0.9014198 NA NA 0.01384417 0.09677272 NA 0.9408029 NA 0.05530845 NA FALSE NA 1 7.487 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA ACA C,A 8.236e-06 5:81254435 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 missense_variant 6.660571 0.99447 0.98595 0.57788 0.9918386 0 7.873089e-10 FALSE 4.06081e-06 ENSE00002352137_010 ENSE00002352137 010 5 80550173 80550342 + 42 96 32 C T 80550259 765 87 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCATTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254439 81254440 81254440 exon 45 0.46875 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAATGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 31 194 1 1 1 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.09858019 NA 0.9408029 NA 0.05919713 NA FALSE NA 0.799 -0.276 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA ACG C,T 1.647e-05 5:81254440 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 synonymous_variant 1.669082 0.91425 0.11494 0.614807 0.7903826 0 7.873089e-10 FALSE 1.21822e-05 ENSE00002352137_012 ENSE00002352137 012 5 80550173 80550342 + 42 96 32 C G 80550268 767 96 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGCTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254448 81254449 81254449 exon -43 0.5625 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGAGCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 813 472 0.9900011 0.9870087 0.9885049 NA NA 0.9801859 0.9014198 NA NA 0.009815153 0.08558887 NA 0.9408029 NA 0.04770201 NA FALSE NA 0.992 0.186 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA ACC C,G 8.237e-06 5:81254449 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 missense_variant 1.985207 0.97929 0.89206 0.57788 0.9895177 0 7.873089e-10 FALSE 4.06085e-06 ENSE00002352137_013 ENSE00002352137 013 5 80550173 80550342 + 42 96 32 G A 80550273 768 101 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCTTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254453 81254454 81254454 exon -38 0.6145833 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAAGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 346 550 1 0.998463 0.9992315 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.09704324 NA 0.9408029 NA 0.05842865 NA FALSE NA 0 0.434 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA AGG G,A 8.236e-06 5:81254454 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 missense_variant 0.016553 0.25708 0.1188 0.57788 0.8157447 0 7.873089e-10 FALSE 4.06095e-06 ENSE00002352137_014 ENSE00002352137 014 5 80550173 80550342 + 42 96 32 C T 80550291 769 119 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCATTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254471 81254472 81254472 exon -20 0.8020833 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAATGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 61 224 1 0.9782083 0.9891042 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.0767885 NA 0.9408029 NA 0.04830128 NA FALSE NA 1 7.487 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA ACG C,T 2.471e-05 5:81254472 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 missense_variant 6.321125 0.99424 0.98198 0.57788 0.9989418 0 7.873089e-10 FALSE 4.06147e-05 ENSE00002352137_017 ENSE00002352137 017 5 80550173 80550342 + 42 96 32 C T 80550329 772 157 TCGTGGGGAAGGAAAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254509 81254510 81254510 downstr_intron 19 1.612903 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTTTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 282 18 1 0.8138476 0.9069238 NA NA 0.9801859 0.9014198 NA NA 0.01981407 -0.08757216 NA 0.9408029 NA -0.03387905 NA FALSE NA 0 -0.65 . upstream_gene_variant MODIFIER CKMT2 HGNC 1996 ENST00000514086 1 NA TCT C,T 8.236e-06 5:81254510 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 non_coding_transcript_exon_variant 0.262626 0.22907 0.00266 0.065574 0.4407903 0.0497784 7.873089e-10 FALSE 8.13782e-06 ENSE00002353169_001 ENSE00002353169 001 15 57896420 57896589 + 47 87 36 C T 57896444 1115 25 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGACCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604245 57604246 57604246 upstr_intron -23 -0.4680851 CCCCAAATGCTGACTCCTAACTGGTCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant 24 20 0.9534857 0.9652049 0.9593453 249 368 0.9916094 1 0.9958047 0.9727701 0.9952301 0.9840097 0.9936928 -0.01928442 -0.0300252 0.007599689 0.006307213 0.9840001 0.9888513 -0.02465481 0.006953451 0.03160826 FALSE FALSE 0 -0.363 . intron_variant MODIFIER MYZAP HGNC 43444 ENST00000569089 2/5 1 NA GCC C,T 8.236e-06 15:57604246 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 intron_variant 1.237344 0.20213 0.01401 0.062308 0.7928304 0.053683 2.213673e-09 FALSE 4.0781e-06 ENSE00002353169_002 ENSE00002353169 002 15 57896420 57896589 + 47 87 36 C G 57896449 1116 30 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGCAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604250 57604251 57604251 upstr_intron -18 -0.3617021 CCCCAAATGCTGACTCCTAACTGGCCTCTGCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 716 56 0.9974093 1 0.9987047 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.0133996 0.006307213 0.9840001 0.9888513 NA 0.009853405 NA FALSE NA 0 -0.315 . intron_variant MODIFIER MYZAP HGNC 43444 ENST00000569089 2/5 rs202126161 1 G:0.0010 G:0.0038 G:0 NA G:0 G:0 G:0 TCC C,G 8.236e-05 15:57604251 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 intron_variant 0.448718 0.17862 0.01975 0.062308 0.6440586 0.115544 2.213673e-09 FALSE 6.10675e-05 ENSE00002353169_005 ENSE00002353169 005 15 57896420 57896589 + 47 87 36 T C 57896461 1119 42 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAGGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604262 57604263 57604263 upstr_intron -6 -0.106383 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCCTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 657 1204 0.9993897 0.9952654 0.9973276 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01538 0.001572646 0.9840001 0.9888513 NA 0.008476322 NA FALSE NA 0.001 0.308 . splice_region_variant&intron_variant LOW MYZAP HGNC 43444 ENST00000569089 2/5 1 NA CTT T,C 8.236e-06 15:57604263 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 splice_region_variant -0.080902 0.19681 0.02169 0.062308 0.6711844 0.227402 2.213673e-09 FALSE 4.06435e-06 ENSE00002353169_006 ENSE00002353169 006 15 57896420 57896589 + 47 87 36 G A 57896466 1120 47 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCTTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604267 57604268 57604268 upstr_intron -1 0 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAAGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant 24 12 0.9790758 0.9905275 0.9848016 51 26 1 1 1 0.9727701 0.9952301 0.9840097 0.9936928 0.006305669 -0.004702656 0.01599027 0.006307213 0.9840001 0.9888513 0.0008015064 0.01114874 0.01034723 FALSE FALSE 1 4.064 . splice_acceptor_variant HIGH MYZAP HGNC 43444 ENST00000569089 2/5 1 NA HC AGG G,A 8.236e-06 15:57604268 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 splice_acceptor_variant 3.966498 0.97205 0.83867 0.099367 0.9868909 0.33236 2.213673e-09 FALSE 8.12942e-06 ENSE00002353169_007 ENSE00002353169 007 15 57896420 57896589 + 47 87 36 G A 57896467 1121 48 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGTCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604268 57604269 57604269 exon 1 0.01149425 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGACAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 245 283 1 0.9960023 0.9980012 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01599027 0.002309562 0.9840001 0.9888513 NA 0.009149915 NA FALSE NA 1 1.804 . missense_variant&splice_region_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 1 tolerated(0.17) benign(0.163) NA GGC G,A 8.236e-06 15:57604269 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 2.552311 0.97232 0.74789 0.562547 0.9987024 0 2.213673e-09 FALSE NA ENSE00002353169_008 ENSE00002353169 008 15 57896420 57896589 + 47 87 36 T C 57896474 1122 55 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAGCATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604275 57604276 57604276 exon 8 0.09195402 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGCTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 29 451 0.9319484 1 0.9659742 0.9727701 0.9952301 0.9840097 0.9936928 NA NA -0.0520613 0.006307213 0.9840001 0.9888513 NA -0.02287704 NA FALSE NA 1 3.301 . missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 1 deleterious(0) possibly_damaging(0.785) NA GTT T,C 4.118e-05 15:57604276 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 4.958591 0.97869 0.80383 0.562547 0.9984663 0 2.213673e-09 FALSE 2.43807e-05 ENSE00002353169_011 ENSE00002353169 011 15 57896420 57896589 + 47 87 36 C T 57896485 1125 66 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCATAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604286 57604287 57604287 exon 19 0.2183908 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTATGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 143 122 1 0.9089794 0.9544897 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01599027 -0.08471343 0.9840001 0.9888513 NA -0.03436158 NA FALSE NA 0.809 1.151 . missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 rs574457473&COSM1608507&COSM3706646&COSM1608508 1 deleterious(0.02) benign(0.157) NA ACG C,T 8.236e-06 15:57604287 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 5.905232 0.96587 0.53424 0.562547 0.9989361 0 2.213673e-09 FALSE 8.12579e-06 ENSE00002353169_012 ENSE00002353169 012 15 57896420 57896589 + 47 87 36 C T 57896492 1126 73 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGATCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604293 57604294 57604294 exon 26 0.2988506 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGATCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 143 617 1 0.9999383 0.9999691 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01599027 0.006245508 0.9840001 0.9888513 NA 0.01111789 NA FALSE NA 0.98 3.219 rs140163703 missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 rs140163703 1 deleterious(0) probably_damaging(0.999) NA T:0.0002 T:0 ACC C,T 2.471e-05 15:57604294 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 6.071056 0.97954 0.80122 0.706548 0.9990883 0 2.213673e-09 FALSE 1.62491e-05 ENSE00002353169_013 ENSE00002353169 013 15 57896420 57896589 + 47 87 36 C T 57896493 1127 74 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACAGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604294 57604295 57604295 exon 27 0.3103448 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACTGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 158 340 0.9935886 0.9990686 0.9963286 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.009578909 0.005375763 0.9840001 0.9888513 NA 0.007477336 NA FALSE NA 0.001 -3.491 . synonymous_variant LOW MYZAP HGNC 43444 ENST00000569089 3/6 rs201832214 1 NA CCG C,T 0.00014 15:57604295 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 synonymous_variant 1.596188 0.08373 0.00387 0.706548 0.809012 0 2.213673e-09 FALSE 0.000117816 ENSE00002353169_015 ENSE00002353169 015 15 57896420 57896589 + 47 87 36 C T 57896497 1129 78 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGATACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604298 57604299 57604299 exon 31 0.3563218 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTATCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 849 19 0.9996602 0.8 0.8998301 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01565046 -0.1936928 0.9840001 0.9888513 NA -0.08902116 NA FALSE NA 0.205 1.883 . missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 1 deleterious(0.01) benign(0.249) NA ACC C,T 2.471e-05 15:57604299 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 4.192344 0.97279 0.27929 0.562547 0.9990734 0 2.213673e-09 FALSE 1.62477e-05 ENSE00002353169_016 ENSE00002353169 016 15 57896420 57896589 + 47 87 36 C T 57896498 1130 79 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAAGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604299 57604300 57604300 exon 32 0.3678161 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACTTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 194 190 1 1 1 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01599027 0.006307213 0.9840001 0.9888513 NA 0.01114874 NA FALSE NA 0.216 3.219 . missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 rs371899236 1 deleterious(0) possibly_damaging(0.894) NA T:0 T:0.0001 CCT C,T 8.236e-06 15:57604300 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 6.05282 0.97338 0.36302 0.562547 0.9986902 0 2.213673e-09 FALSE 1.6248e-05 ENSE00002353169_017 ENSE00002353169 017 15 57896420 57896589 + 47 87 36 C T 57896500 1131 81 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGAAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604301 57604302 57604302 exon 34 0.3908046 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTTCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant 10 19 0.9817098 0.9945855 0.9881477 530 63 0.9908818 1 0.9954409 0.9727701 0.9952301 0.9840097 0.9936928 0.008939727 -0.0006446019 0.006872112 0.006307213 0.9840001 0.9888513 0.004147563 0.006589662 0.0024421 FALSE FALSE 0.403 3.219 . missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 1 deleterious(0.01) probably_damaging(0.999) NA TCC C,T 8.236e-06 15:57604302 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 5.533705 0.96816 0.46059 0.562547 0.9990662 0 2.213673e-09 FALSE 8.12394e-06 ENSE00002353169_018 ENSE00002353169 018 15 57896420 57896589 + 47 87 36 T C 57896524 1132 105 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACGTTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604325 57604326 57604326 exon -30 0.6666667 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAACGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 438 86 0.9966643 1 0.9983322 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.0126546 0.006307213 0.9840001 0.9888513 NA 0.009480908 NA FALSE NA 0.007 0.363 . missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 1 tolerated(0.51) benign(0) NA ATG A,C 8.236e-06 15:57604326 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 0.409886 0.21245 0.01764 0.706548 0.8726948 0 2.213673e-09 FALSE 4.06184e-06 ENSE00002353169_020 ENSE00002353169 020 15 57896420 57896589 + 47 87 36 A G 57896530 1134 111 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTCTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604331 57604332 57604332 exon -24 0.7356322 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAGAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 303 1400 0.9949033 0.9991811 0.9970422 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.0108936 0.005488275 0.9840001 0.9888513 NA 0.008190935 NA FALSE NA 1 2.327 . missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 1 deleterious(0) benign(0.358) NA AAA A,G 1.647e-05 15:57604332 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 3.542493 0.96471 0.72914 0.706548 0.9983027 0 2.213673e-09 FALSE 2.0309e-05 ENSE00002353169_021 ENSE00002353169 021 15 57896420 57896589 + 47 87 36 T C 57896537 1135 118 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAGTCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604338 57604339 57604339 exon -17 0.816092 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGACTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 465 453 0.9989331 1 0.9994666 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01492338 0.006307213 0.9840001 0.9888513 NA 0.01061529 NA FALSE NA 0.014 0.738 . missense_variant MODERATE MYZAP HGNC 43444 ENST00000569089 3/6 1 tolerated(0.49) benign(0.008) NA ATT T,C 8.236e-06 15:57604339 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 0.718069 0.31372 0.04284 0.706548 0.9617124 0 2.213673e-09 FALSE 1.21867e-05 ENSE00002353169_022 ENSE00002353169 022 15 57896420 57896589 + 47 87 36 G A 57896541 1136 122 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTTTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604342 57604343 57604343 exon -13 0.862069 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAAAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 164 77 1 0.9754763 0.9877381 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01599027 -0.0182165 0.9840001 0.9888513 NA -0.001113116 NA FALSE NA 0.968 0.158 . synonymous_variant LOW MYZAP HGNC 43444 ENST00000569089 3/6 1 NA AGA G,A 8.236e-06 15:57604343 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 synonymous_variant 1.096884 0.53277 0.11904 0.706548 0.8823273 0 2.213673e-09 FALSE 4.0624e-06 ENSE00002353169_024 ENSE00002353169 024 15 57896420 57896589 + 47 87 36 A G 57896557 1138 138 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCCTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604358 57604359 57604359 downstr_intron 4 1.114286 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAGGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant 19 16 0.9096151 0.957799 0.933707 318 787 0.9966094 0.999515 0.9980622 0.9727701 0.9952301 0.9840097 0.9936928 -0.06315501 -0.03743113 0.01259966 0.005822174 0.9840001 0.9888513 -0.05029307 0.009210919 0.05950399 FALSE FALSE 0.999 2.435 . splice_region_variant&intron_variant LOW MYZAP HGNC 43444 ENST00000569089 3/5 rs571053346 1 G:0.0002 G:0 G:0 NA G:0 G:0 G:0.001 AAG A,G 8.236e-06 15:57604359 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 splice_region_variant 0.711306 0.83393 0.65103 0.062308 0.7611585 0.225747 2.213673e-09 FALSE 4.06431e-06 ENSE00002353169_025 ENSE00002353169 025 15 57896420 57896589 + 47 87 36 G A 57896558 1139 139 GGAACTTGTTGGGGCTTTGCCTCGGAGATACTTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604359 57604360 57604360 downstr_intron 5 1.142857 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAAGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 740 58 0.9963572 0.9938673 0.9951123 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01234752 0.0001745601 0.9840001 0.9888513 NA 0.006261038 NA FALSE NA 0.996 4.055 . splice_region_variant&intron_variant LOW MYZAP HGNC 43444 ENST00000569089 3/5 1 NA AGG G,A 2.471e-05 15:57604360 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 splice_region_variant 0.947752 0.89115 0.80006 0.062308 0.7315309 0.964808 2.213673e-09 FALSE 1.62555e-05 ENSE00002353169_026 ENSE00002353169 026 15 57896420 57896589 + 47 87 36 G C 57896559 1140 140 GGAACTTGTTGGGGCTTTGCCTCGGAGATAGCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604360 57604361 57604361 downstr_intron 6 1.171429 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGCTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 1161 527 0.9995739 0.9996998 0.9996368 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01556413 0.006006995 0.9840001 0.9888513 NA 0.01078556 NA FALSE NA 0 -1.243 . splice_region_variant&intron_variant LOW MYZAP HGNC 43444 ENST00000569089 3/5 1 NA GGT G,C 2.471e-05 15:57604361 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 splice_region_variant -0.467219 0.10359 0.00388 0.062308 0.457847 0.0631666 2.213673e-09 FALSE 4.47045e-05 ENSE00002353169_027 ENSE00002353169 027 15 57896420 57896589 + 47 87 36 T C 57896560 1141 141 GGAACTTGTTGGGGCTTTGCCTCGGAGATGCCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604361 57604362 57604362 downstr_intron 7 1.2 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGCATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 265 51 0.8093322 0.9512802 0.8803062 0.9727701 0.9952301 0.9840097 0.9936928 NA NA -0.1746775 -0.0424126 0.9840001 0.9888513 NA -0.1085451 NA FALSE NA 0 -1.403 . splice_region_variant&intron_variant LOW MYZAP HGNC 43444 ENST00000569089 3/5 1 NA GTA T,C 8.236e-06 15:57604362 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 splice_region_variant -0.195075 0.13914 0.00251 0.062308 0.4835982 0.0549589 2.213673e-09 FALSE 4.06431e-06 ENSE00002353169_030 ENSE00002353169 030 15 57896420 57896589 + 47 87 36 C T 57896566 1144 147 GGAACTTGTTGGGGCTTTGCCTCAGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604367 57604368 57604368 downstr_intron 13 1.371429 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCTGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 1419 362 0.997583 0.9920534 0.9948182 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01357327 -0.001639357 0.9840001 0.9888513 NA 0.005966955 NA FALSE NA 0 -2.049 rs115438075 intron_variant MODIFIER MYZAP HGNC 43444 ENST00000569089 3/5 rs115438075 1 T:0.0024 T:0.0083 T:0.0014 NA T:0 T:0 T:0 T:0.008 T:0.0003 CCG C,T 0.001137 15:57604368 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 intron_variant -0.341766 0.10413 0.00214 0.062308 0.5283602 0.0549589 2.213673e-09 FALSE 0.000914887 ENSE00002353169_031 ENSE00002353169 031 15 57896420 57896589 + 47 87 36 G A 57896567 1145 148 GGAACTTGTTGGGGCTTTGCCTTGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604368 57604369 57604369 downstr_intron 14 1.4 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCAAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant 11 10 0.9804771 0.9067764 0.9436268 863 642 1 0.9970355 0.9985178 0.9727701 0.9952301 0.9840097 0.9936928 0.007707023 -0.08845366 0.01599027 0.003342748 0.9840001 0.9888513 -0.04037332 0.009666508 0.05003983 FALSE FALSE 0.035 0.616 . intron_variant MODIFIER MYZAP HGNC 43444 ENST00000569089 3/5 rs553660183 1 A:0.0006 A:0 A:0 NA A:0 A:0 A:0.0031 CGA G,A 2.471e-05 15:57604369 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 intron_variant 0.013072 0.19937 0.03668 0.062308 0.4349159 0.0549589 2.213673e-09 FALSE 2.03325e-05 ENSE00002353169_032 ENSE00002353169 032 15 57896420 57896589 + 47 87 36 A G 57896572 1146 153 GGAACTTGTTGGGGCTTCGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604373 57604374 57604374 downstr_intron 19 1.542857 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCGAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 65 1354 0.9390488 0.9867466 0.9628977 0.9727701 0.9952301 0.9840097 0.9936928 NA NA -0.04496088 -0.006946179 0.9840001 0.9888513 NA -0.02595353 NA FALSE NA 0 -0.684 . intron_variant MODIFIER MYZAP HGNC 43444 ENST00000569089 3/5 rs573471782 1 G:0.0002 G:0.0008 G:0 NA G:0 G:0 G:0 CAA A,G 8.236e-06 15:57604374 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 intron_variant 0.120615 0.1453 0.01048 0.062308 0.5244971 0.0549589 2.213673e-09 FALSE NA ENSE00002353169_033 ENSE00002353169 033 15 57896420 57896589 + 47 87 36 C T 57896577 1147 158 GGAACTTGTTGGAGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604378 57604379 57604379 downstr_intron 24 1.685714 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCTCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 1306 2622 0.995221 0.9591144 0.9771677 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01121131 -0.03457839 0.9840001 0.9888513 NA -0.01168354 NA FALSE NA 0 -0.724 . intron_variant MODIFIER MYZAP HGNC 43444 ENST00000569089 3/5 1 NA CCC C,T 8.236e-06 15:57604379 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 intron_variant 0.021186 0.13389 0.0044 0.062308 0.3738194 0.0549589 2.213673e-09 FALSE 4.06967e-06 ENSE00002356780_002 ENSE00002356780 002 6 90305594 90305763 + 41 99 30 G A 90305607 1954 14 GAGGACTTGTTCCAAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595887 89595888 89595888 upstr_intron -28 -0.6585366 GAGGACTTGTTCCAAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 280 452 0.9290354 0.8827967 0.905916 0.9952252 0.9990216 0.9415944 0.9442776 NA NA -0.01255901 -0.06148088 0.9971234 0.942936 NA -0.03701994 NA FALSE NA 0.963 -0.003 . intron_variant MODIFIER ANKRD6 HGNC 17280 ENST00000522705 2/4 1 NA CGA G,A 8.285e-06 6:89595888 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 intron_variant 0.035599 0.20606 0.12535 0.053691 0.6286438 0.0942742 3.487691e-07 FALSE NA ENSE00002356780_003 ENSE00002356780 003 6 90305594 90305763 + 41 99 30 A C 90305627 1955 34 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCCTTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595907 89595908 89595908 upstr_intron -8 -0.1707317 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCCTTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 100 712 0.9745291 0.9984347 0.9864819 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.03293477 0.0541571 0.9971234 0.942936 NA 0.04354593 NA FALSE NA 0 -1.555 . splice_region_variant&intron_variant LOW ANKRD6 HGNC 17280 ENST00000522705 2/4 1 NA CAT A,C 8.27e-06 6:89595908 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 splice_region_variant 0.295925 0.15166 0.08703 0.078051 0.5816825 0.323033 3.487691e-07 FALSE 4.42505e-06 ENSE00002356780_004 ENSE00002356780 004 6 90305594 90305763 + 41 99 30 A G 90305636 1956 43 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCGTGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595916 89595917 89595917 exon 2 0.02020202 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCGTGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 287 157 0.9929019 1 0.9964509 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.0513075 0.05572239 0.9971234 0.942936 NA 0.05351494 NA FALSE NA 1 8.73 . missense_variant&splice_region_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 rs538888102 1 deleterious(0.01) possibly_damaging(0.893) G:0.0002 G:0 G:0.0014 NA G:0 G:0 G:0 CAT A,G 1.654e-05 6:89595917 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 5.269864 0.96587 0.95704 0.615465 0.9978922 0 3.487691e-07 FALSE 1.70847e-05 ENSE00002356780_006 ENSE00002356780 006 6 90305594 90305763 + 41 99 30 G A 90305642 1958 49 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCAGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595922 89595923 89595923 exon 8 0.08080808 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCAGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 130 219 1 1 1 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.05840564 0.05572239 0.9971234 0.942936 NA 0.05706401 NA FALSE NA 1 9.231 . missense_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 1 deleterious(0.03) probably_damaging(0.994) NA CGG G,A 2.48e-05 6:89595923 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 7.590448 0.9721 0.96175 0.706298 0.9992836 0 3.487691e-07 FALSE NA ENSE00002356780_007 ENSE00002356780 007 6 90305594 90305763 + 41 99 30 T A 90305646 1959 53 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACACCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595926 89595927 89595927 exon 12 0.1212121 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACACCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 277 74 0.9994463 0.9736091 0.9865277 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.05785196 0.02933147 0.9971234 0.942936 NA 0.04359172 NA FALSE NA 0.049 -0.782 . synonymous_variant LOW ANKRD6 HGNC 17280 ENST00000522705 3/5 1 NA CTC T,A 8.268e-06 6:89595927 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 synonymous_variant 1.182987 0.85245 0.20259 0.706298 0.7685977 0 3.487691e-07 FALSE NA ENSE00002356780_008 ENSE00002356780 008 6 90305594 90305763 + 41 99 30 C T 90305647 1960 54 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTTCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595927 89595928 89595928 exon 13 0.1313131 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTTCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 40 115 1 1 1 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.05840564 0.05572239 0.9971234 0.942936 NA 0.05706401 NA FALSE NA 0.997 3.575 . missense_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 1 deleterious(0) probably_damaging(0.933) NA TCC C,T 8.268e-06 6:89595928 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 6.087175 0.95703 0.87171 0.706298 0.9992744 0 3.487691e-07 FALSE 4.205e-06 ENSE00002356780_009 ENSE00002356780 009 6 90305594 90305763 + 41 99 30 T A 90305678 1961 85 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCATCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595958 89595959 89595959 exon 44 0.4444444 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCATCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 1490 443 0.9879557 1 0.9939778 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.04636133 0.05572239 0.9971234 0.942936 NA 0.05104186 NA FALSE NA 1 5.724 . missense_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 1 deleterious(0) probably_damaging(0.95) NA CTT T,A 8.266e-06 6:89595959 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 5.964152 0.94919 0.89698 0.615465 0.9812123 0 3.487691e-07 FALSE 4.14552e-06 ENSE00002356780_010 ENSE00002356780 010 6 90305594 90305763 + 41 99 30 C G 90305681 1962 88 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCGTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595961 89595962 89595962 exon 47 0.4747475 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCGTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 375 236 0.9807629 1 0.9903815 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.03916856 0.05572239 0.9971234 0.942936 NA 0.04744548 NA FALSE NA 0.992 1.903 . missense_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 rs199822369 1 tolerated(0.29) benign(0.003) G:0.0004 G:0.0015 G:0 NA G:0 G:0 G:0 CCT C,G 8.267e-06 6:89595962 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 2.181726 0.93101 0.74685 0.615465 0.9832574 0 3.487691e-07 FALSE NA ENSE00002356780_011 ENSE00002356780 011 6 90305594 90305763 + 41 99 30 T C 90305682 1963 89 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCCGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595962 89595963 89595963 exon 48 0.4848485 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCCGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 224 277 0.9983347 0.9987538 0.9985443 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.05674032 0.05447622 0.9971234 0.942936 NA 0.05560827 NA FALSE NA 0.994 0.591 . synonymous_variant LOW ANKRD6 HGNC 17280 ENST00000522705 3/5 1 NA CTG T,C 8.267e-06 6:89595963 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 synonymous_variant 0.408959 0.92633 0.71589 0.615465 0.7717616 0 3.487691e-07 FALSE NA ENSE00002356780_014 ENSE00002356780 014 6 90305594 90305763 + 41 99 30 G A 90305711 1966 118 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTACGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595991 89595992 89595992 exon -23 0.7777778 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTACGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 878 1729 0.9998254 0.9982869 0.9990562 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.05823106 0.05400933 0.9971234 0.942936 NA 0.0561202 NA FALSE NA 1 9.231 . missense_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 1 deleterious(0) probably_damaging(0.961) NA TGC G,A 2.481e-05 6:89595992 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 5.024423 0.97037 0.95725 0.706298 0.9979655 0 3.487691e-07 FALSE 1.26136e-05 ENSE00002356780_017 ENSE00002356780 017 6 90305594 90305763 + 41 99 30 G A 90305719 1969 126 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTAATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89595999 89596000 89596000 exon -15 0.8585859 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTAATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 1355 284 0.9986867 1 0.9993433 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.05709229 0.05572239 0.9971234 0.942936 NA 0.05640734 NA FALSE NA 1 5.249 . missense_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 rs370928609 1 tolerated(0.25) benign(0.019) NA A:0 A:0.0001 TGA G,A 2.482e-05 6:89596000 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 3.16639 0.95747 0.9106 0.615465 0.9867831 0 3.487691e-07 FALSE NA ENSE00002356780_018 ENSE00002356780 018 6 90305594 90305763 + 41 99 30 T A 90305723 1970 130 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGACCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89596003 89596004 89596004 exon -11 0.8989899 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGACCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 1720 28 0.9990528 1 0.9995264 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.05745843 0.05572239 0.9971234 0.942936 NA 0.05659041 NA FALSE NA 1 7.498 . missense_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 1 tolerated(0.06) benign(0.217) NA GTC T,A 8.272e-06 6:89596004 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 4.948362 0.96374 0.93765 0.615465 0.9870131 0 3.487691e-07 FALSE NA ENSE00002356780_019 ENSE00002356780 019 6 90305594 90305763 + 41 99 30 A G 90305729 1971 136 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGGTGATGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89596009 89596010 89596010 exon -5 0.959596 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGGTGATGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 651 369 0.9997012 1 0.9998506 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.05810684 0.05572239 0.9971234 0.942936 NA 0.05691462 NA FALSE NA 1 8.73 . missense_variant MODERATE ANKRD6 HGNC 17280 ENST00000522705 3/5 1 deleterious(0) possibly_damaging(0.483) NA GAT A,G 4.964e-05 6:89596010 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 missense_variant 4.714625 0.96377 0.95201 0.615465 0.9987809 0 3.487691e-07 FALSE 4.73591e-05 ENSE00002356780_020 ENSE00002356780 020 6 90305594 90305763 + 41 99 30 T C 90305733 1972 140 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGACGTGAGTAGAAGCCATCATTCTATCAGGCTG 89595874 89596044 89596013 89596014 89596014 exon -1 1 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGACGTGAGTAGAAGCCATCATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 71 772 0.9976582 0.9956733 0.9966657 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.0560638 0.05139571 0.9971234 0.942936 NA 0.05372975 NA FALSE NA 1 0.856 . splice_region_variant&synonymous_variant LOW ANKRD6 HGNC 17280 ENST00000522705 3/5 1 NA ATG T,C 8.274e-06 6:89596014 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 splice_region_variant 0.846421 0.89863 0.71345 0.615465 0.718483 0 3.487691e-07 FALSE NA ENSE00002356780_022 ENSE00002356780 022 6 90305594 90305763 + 41 99 30 C T 90305749 1974 156 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATTATTCTATCAGGCTG 89595874 89596044 89596029 89596030 89596030 downstr_intron 16 1.551724 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATTATTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 2844 476 0.9725279 0.9996676 0.9860978 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.03093355 0.05538999 0.9971234 0.942936 NA 0.04316177 NA FALSE NA 0 -0.499 . intron_variant MODIFIER ANKRD6 HGNC 17280 ENST00000522705 3/4 1 NA TCA C,T 4.141e-05 6:89596030 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 intron_variant 0.53557 0.20323 0.04581 0.101703 0.6996449 0.117971 3.487691e-07 FALSE 3.24784e-05 ENSE00002356780_023 ENSE00002356780 023 6 90305594 90305763 + 41 99 30 T C 90305751 1975 158 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCACTCTATCAGGCTG 89595874 89596044 89596031 89596032 89596032 downstr_intron 18 1.62069 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCACTCTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 505 28 0.9981105 1 0.9990552 0.9952252 0.9990216 0.9415944 0.9442776 NA NA 0.0565161 0.05572239 0.9971234 0.942936 NA 0.05611925 NA FALSE NA 0.017 1.566 . intron_variant MODIFIER ANKRD6 HGNC 17280 ENST00000522705 3/4 rs377592751 1 NA ATT T,C 4.142e-05 6:89596032 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 intron_variant 0.152083 0.28036 0.06347 0.101703 0.8028696 0.105925 3.487691e-07 FALSE 5.62071e-05 ENSE00002356780_024 ENSE00002356780 024 6 90305594 90305763 + 41 99 30 C T 90305753 1976 160 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTTTATCAGGCTG 89595874 89596044 89596033 89596034 89596034 downstr_intron 20 1.689655 GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTTTATCAGGCTG GAGGACTTGTTCCGAAATCATTGTTCATTTTGCATTCACAGCATGGCCGGACTCCCCTGCATCTTGCTGCCAATAAGGGCCATCTTCCTGTGGTCCAGATCTTGCTGAAGGCTGGCTGCGACCTTGATGTCCAGGATGATGTGAGTAGAAGCCATCATTCTATCAGGCTG mutant NA NA NA NA NA 2472 1034 0.8727998 0.9968567 0.9348282 0.9952252 0.9990216 0.9415944 0.9442776 NA NA -0.06879461 0.05257904 0.9971234 0.942936 NA -0.008107783 NA FALSE NA 0.02 0.591 . intron_variant MODIFIER ANKRD6 HGNC 17280 ENST00000522705 3/4 1 NA TCT C,T 1.657e-05 6:89596034 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003476176 intron_variant -0.143929 0.19112 0.04754 0.101703 0.3473204 0.0520918 3.487691e-07 FALSE NA ENSE00002356908_001 ENSE00002356908 001 2 173356112 173356281 + 41 99 30 C T 173356127 3225 16 ACACTTTTCACTTCCTTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491398 172491399 172491399 upstr_intron -26 -0.6097561 ACACTTTTCACTTCCTTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 3024 1503 0.9960748 0.8122525 0.9041636 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06099024 -0.107512 0.9903542 0.9274245 NA -0.02326087 NA FALSE NA 0.001 0.182 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 1 NA CCT C,T 8.237e-06 2:172491399 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 intron_variant 1.41112 0.17913 0.11898 0.262962 0.7787272 0.242604 0.009913603 FALSE NA ENSE00002356908_002 ENSE00002356908 002 2 173356112 173356281 + 41 99 30 A G 173356134 3226 23 ACACTTTTCACTTCCCTAATGCGTTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491405 172491406 172491406 upstr_intron -19 -0.4390244 ACACTTTTCACTTCCCTAATGCGTTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 1053 941 0.9006933 0.9936497 0.9471715 0.996728 0.9839803 0.9350845 0.9197644 NA NA -0.03439121 0.07388528 0.9903542 0.9274245 NA 0.01974704 NA FALSE NA 0 -0.002 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 rs367563520 1 NA G:0 G:0.0002 CAT A,G 8.237e-06 2:172491406 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 intron_variant 1.654597 0.14345 0.11768 0.262962 0.8060236 0.146207 0.009913603 FALSE 4.07924e-06 ENSE00002356908_003 ENSE00002356908 003 2 173356112 173356281 + 41 99 30 C T 173356139 3227 28 ACACTTTTCACTTCCCTAATGCATTCATTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491410 172491411 172491411 upstr_intron -14 -0.3170732 ACACTTTTCACTTCCCTAATGCATTCATTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 2659 2843 0.987177 0.9942993 0.9907382 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.05209248 0.07453487 0.9903542 0.9274245 NA 0.06331368 NA FALSE NA 0.598 0.317 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 1 NA ACT C,T 8.237e-06 2:172491411 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 intron_variant 1.416848 0.17561 0.14014 0.262962 0.8004522 0.183514 0.009913603 FALSE 4.08203e-06 ENSE00002356908_004 ENSE00002356908 004 2 173356112 173356281 + 41 99 30 C T 173356146 3228 35 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCTAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491417 172491418 172491418 upstr_intron -7 -0.1463415 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCTAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 854 2652 0.9962101 0.9365724 0.9663912 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06112556 0.01680795 0.9903542 0.9274245 NA 0.03896676 NA FALSE NA 0.095 0.817 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 1 NA CCA C,T 8.237e-06 2:172491418 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 splice_region_variant 1.44382 0.33828 0.31122 0.262962 0.7658797 0.853046 0.009913603 FALSE 4.08614e-06 ENSE00002356908_006 ENSE00002356908 006 2 173356112 173356281 + 41 99 30 C T 173356173 3230 62 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTATTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491444 172491445 172491445 exon 21 0.2121212 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTATTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 1605 59 0.9885304 0.9946006 0.9915655 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.05344591 0.07483618 0.9903542 0.9274245 NA 0.06414104 NA FALSE NA 0.104 -0.073 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 1 NA ACT C,T 1.647e-05 2:172491445 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 synonymous_variant 1.08747 0.89556 0.29269 0.706298 0.7911314 0 0.009913603 FALSE 8.21308e-06 ENSE00002356908_007 ENSE00002356908 007 2 173356112 173356281 + 41 99 30 T C 173356187 3231 76 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCACGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491458 172491459 172491459 exon 35 0.3535354 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCACGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 592 853 1 0.9997699 0.9998849 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06491549 0.08000541 0.9903542 0.9274245 NA 0.07246045 NA FALSE NA 0.989 2.744 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 1 NA ATG T,C 8.237e-06 2:172491459 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 2.740083 0.9642 0.94174 0.706298 0.9442549 0 0.009913603 FALSE 4.11919e-06 ENSE00002356908_010 ENSE00002356908 010 2 173356112 173356281 + 41 99 30 G A 173356190 3234 79 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCAAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491461 172491462 172491462 exon 38 0.3838384 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCAAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 89 1139 1 0.9958116 0.9979058 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06491549 0.07604717 0.9903542 0.9274245 NA 0.07048133 NA FALSE NA 1 3.24 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 rs371735114 1 A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0002 A:0 CGA G,A 4.119e-05 2:172491462 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 3.843805 0.9634 0.81362 0.706298 0.9971233 0 0.009913603 FALSE 3.71012e-05 ENSE00002356908_013 ENSE00002356908 013 2 173356112 173356281 + 41 99 30 A G 173356198 3237 87 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCGTTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491469 172491470 172491470 exon 46 0.4646465 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCGTTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 1160 1604 1 0.879793 0.9398965 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06491549 -0.03997146 0.9903542 0.9274245 NA 0.01247201 NA FALSE NA 1 4.73 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 rs201738305 1 NA CAT A,G 8.238e-06 2:172491470 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 4.814315 0.97726 0.96126 0.706298 0.9953446 0 0.009913603 FALSE 4.12705e-06 ENSE00002356908_015 ENSE00002356908 015 2 173356112 173356281 + 41 99 30 A G 173356222 3239 111 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAGATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491493 172491494 172491494 exon -30 0.7070707 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAGATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 518 1065 0.8880099 0.9999643 0.9439871 0.996728 0.9839803 0.9350845 0.9197644 NA NA -0.04707457 0.08019981 0.9903542 0.9274245 NA 0.01656262 NA FALSE NA 1 8.115 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 rs377185471 1 NA G:0 G:0.0001 AAA A,G 8.243e-06 2:172491494 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 5.811209 0.98522 0.99057 0.706298 0.9973344 0 0.009913603 FALSE 4.1468e-06 ENSE00002356908_016 ENSE00002356908 016 2 173356112 173356281 + 41 99 30 A T 173356225 3240 114 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATTTCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491496 172491497 172491497 exon -27 0.7373737 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATTTCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 255 1247 0.9796739 0.8645448 0.9221094 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.04458941 -0.05521965 0.9903542 0.9274245 NA -0.005315118 NA FALSE NA 1 4.861 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 rs551025143 1 NA TAT A,T 8.243e-06 2:172491497 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 6.168846 0.98601 0.96595 0.706298 0.9876263 0 0.009913603 FALSE 4.14896e-06 ENSE00002356908_017 ENSE00002356908 017 2 173356112 173356281 + 41 99 30 C T 173356231 3241 120 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGTTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491502 172491503 172491503 exon -21 0.7979798 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGTTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 3485 798 0.9824547 0.9974299 0.9899423 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.0473702 0.07766545 0.9903542 0.9274245 NA 0.06251782 NA FALSE NA 1 1.144 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 rs376601539 1 NA T:0 T:0.0002 GCT C,T 2.473e-05 2:172491503 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 synonymous_variant 2.216024 0.96843 0.90285 0.706298 0.8737446 0 0.009913603 FALSE 1.24606e-05 ENSE00002356908_018 ENSE00002356908 018 2 173356112 173356281 + 41 99 30 A G 173356237 3242 126 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAGATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491508 172491509 172491509 exon -15 0.8585859 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAGATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 31 2018 1 0.9987264 0.9993632 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06491549 0.07896192 0.9903542 0.9274245 NA 0.07193871 NA FALSE NA 0.999 2.74 rs188064664 downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 rs188064664 1 G:0.0006 G:0 G:0.0043 NA G:0 G:0 G:0 AAA A,G 1.649e-05 2:172491509 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 1.203353 0.97898 0.94929 0.706298 0.9144011 0 0.009913603 FALSE 1.24688e-05 ENSE00002356908_019 ENSE00002356908 019 2 173356112 173356281 + 41 99 30 A T 173356238 3243 127 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAATTGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491509 172491510 172491510 exon -14 0.8686869 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAATTGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 721 450 0.999657 0.999661 0.999659 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06457251 0.07989655 0.9903542 0.9274245 NA 0.07223453 NA FALSE NA 1 8.115 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 1 NA AAT A,T 1.649e-05 2:172491510 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 4.729347 0.99193 0.99331 0.706298 0.9867213 0 0.009913603 FALSE 1.66272e-05 ENSE00002356908_020 ENSE00002356908 020 2 173356112 173356281 + 41 99 30 G A 173356244 3244 133 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGACACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491515 172491516 172491516 exon -8 0.9292929 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGACACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 1103 2014 0.9958069 0.9994989 0.9976529 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06072234 0.07973444 0.9903542 0.9274245 NA 0.07022839 NA FALSE NA 1 0.874 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 1 NA GGC G,A 2.475e-05 2:172491516 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 2.543409 0.9694 0.84481 0.706298 0.9833544 0 0.009913603 FALSE 4.1632e-05 ENSE00002356908_021 ENSE00002356908 021 2 173356112 173356281 + 41 99 30 T A 173356261 3245 150 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTACCCCAGCTTCATTCAGGTTC 172491383 172491553 172491532 172491533 172491533 downstr_intron 10 1.344828 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTACCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 5517 834 0.998978 0.9936461 0.9963121 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06389349 0.07388165 0.9903542 0.9274245 NA 0.06888757 NA FALSE NA 0 -1.238 . downstream_gene_variant MODIFIER ITGA6 HGNC 6142 ENST00000470259 1 NA TTC T,A 8.259e-06 2:172491533 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 intron_variant 1.773285 0.16637 0.05646 0.262962 0.8803123 0.134497 0.009913603 FALSE 4.18316e-06 ENSE00002361012_006 ENSE00002361012 006 7 65595690 65595859 + 41 99 30 T C 65595718 1101 29 TAGGTAGGCCTGGCAGAAGCCCAGCCTTACTTCATAGGTGATAGTGTTCAAGTTCTGTTGCCCAGAGCTGTGTTTATTCTTTCCACTTTCTTTACGCTGCTCTTTCAGATCAGTTAGTAACTGAAATACCTAGGAGGAGATGCAAAAAAGACGTTTATGAATAAATTTGA 66130702 66130872 66130730 66130731 66130731 upstr_intron -13 -0.2926829 TCAAATTTATTCATAAACGTCTTTTTTGCATCTCCTCCTAGGTATTTCAGTTACTAACTGATCTGAAAGAGCAGCGTAAAGAAAGTGGAAAGAATAAACACAGCTCTGGGCAACAGAACTTGAACACTATCACCTATGAAGTAAGGCTGGGCTTCTGCCAGGCCTACCTA TCAAATTTATTCATAAACGTCTTTTTTGTATCTCCTCCTAGGTATTTCAGTTACTAACTGATCTGAAAGAGCAGCGTAAAGAAAGTGGAAAGAATAAACACAGCTCTGGGCAACAGAACTTGAACACTATCACCTATGAAGTAAGGCTGGGCTTCTGCCAGGCCTACCTA mutant NA NA NA NA NA 39 238 0 0.09016955 0.04508477 0.7154387 0.8384619 0.7633074 0.8737735 NA NA -0.7633074 -0.7836039 0.7769503 0.8185404 NA -0.7734557 NA TRUE NA 0.009 1.793 . intron_variant&NMD_transcript_variant MODIFIER CRCP HGNC 17888 ENST00000360415 3/6 rs575570022 1 C:0.0010 C:0 C:0 NA C:0 C:0 C:0.0051 GTA T,C 0.0003706 7:66130731 CRCP HGNC Symbol protein_coding 39964 ENSG00000241258 ENSE00003562563 intron_variant 0.134731 0.17457 0.07581 0.295142 0.3835266 0.106965 0.001398927 FALSE 0.000336663 ENSE00002361337_001 ENSE00002361337 001 12 56501261 56501430 + 44 93 33 G A 56501274 1957 14 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAGTATCTTTCTGGAAAGTCTGT 56107476 56107646 56107489 56107490 56107490 upstr_intron -31 -0.6818182 ACAGACTTTCCAGAAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 136 248 1 0.9993618 0.9996809 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.06434018 0.07146756 0.99794 0.931777 NA 0.06790387 NA FALSE NA 0 -0.042 . intron_variant MODIFIER PA2G4 HGNC 8550 ENST00000303305 4/12 1 NA GGA G,A 8.236e-06 12:56107490 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 intron_variant 1.327896 0.26371 0.10425 0.069865 0.7445645 0.0809107 0.998001 TRUE NA ENSE00002361337_002 ENSE00002361337 002 12 56501261 56501430 + 44 93 33 A G 56501278 1958 18 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAGTACCTTCCTGGAAAGTCTGT 56107476 56107646 56107493 56107494 56107494 upstr_intron -27 -0.5909091 ACAGACTTTCCAGGAAGGTACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 517 487 0.9870158 0.9989776 0.9929967 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.05135594 0.0710834 0.99794 0.931777 NA 0.06121967 NA FALSE NA 0 -0.282 . intron_variant MODIFIER PA2G4 HGNC 8550 ENST00000303305 4/12 1 NA GAT A,G 8.236e-06 12:56107494 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 intron_variant 0.439736 0.1856 0.00816 0.069865 0.8179915 0.0809107 0.998001 TRUE 4.06802e-06 ENSE00002361337_003 ENSE00002361337 003 12 56501261 56501430 + 44 93 33 C T 56501281 1959 21 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAATATCTTCCTGGAAAGTCTGT 56107476 56107646 56107496 56107497 56107497 upstr_intron -24 -0.5227273 ACAGACTTTCCAGGAAGATATTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 389 690 0.9858076 0.9970222 0.9914149 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.05014782 0.06912798 0.99794 0.931777 NA 0.0596379 NA FALSE NA 0 -0.172 . intron_variant MODIFIER PA2G4 HGNC 8550 ENST00000303305 4/12 rs372667299 1 NA T:0 T:0.0002 ACT C,T 6.589e-05 12:56107497 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 intron_variant 0.633264 0.22335 0.10175 0.069865 0.7289003 0.0632383 0.998001 TRUE 5.28902e-05 ENSE00002361337_004 ENSE00002361337 004 12 56501261 56501430 + 44 93 33 G A 56501287 1960 27 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGTAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107502 56107503 56107503 upstr_intron -18 -0.3863636 ACAGACTTTCCAGGAAGATACTGATTACATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 634 1742 0.9988913 0.9987912 0.9988412 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.06323144 0.07089696 0.99794 0.931777 NA 0.0670642 NA FALSE NA 0 -2.155 . intron_variant MODIFIER PA2G4 HGNC 8550 ENST00000303305 4/12 1 NA TGC G,A 8.236e-06 12:56107503 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 intron_variant 0.406439 0.2158 0.04482 0.069865 0.6864278 0.08764 0.998001 TRUE 4.06379e-06 ENSE00002361337_005 ENSE00002361337 005 12 56501261 56501430 + 44 93 33 C T 56501288 1961 28 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATACAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107503 56107504 56107504 upstr_intron -17 -0.3636364 ACAGACTTTCCAGGAAGATACTGATTGTATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant 50 18 1 1 1 416 1451 0.98498 0.9973297 0.9911548 0.9988087 0.9970712 0.9356598 0.9278942 0.001191265 0.002928759 0.04932017 0.06943548 0.99794 0.931777 0.002060012 0.05937783 0.05731782 FALSE FALSE 0 -0.398 . intron_variant MODIFIER PA2G4 HGNC 8550 ENST00000303305 4/12 1 NA GCA C,T 7.413e-05 12:56107504 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 intron_variant 0.512156 0.23228 0.06806 0.069865 0.7154773 0.08764 0.998001 TRUE 8.53513e-05 ENSE00002361337_006 ENSE00002361337 006 12 56501261 56501430 + 44 93 33 T C 56501290 1962 30 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACGTGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107505 56107506 56107506 upstr_intron -15 -0.3181818 ACAGACTTTCCAGGAAGATACTGATTGCACGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 1125 534 0.9968521 0.9999287 0.9983904 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.06119228 0.07203451 0.99794 0.931777 NA 0.06661339 NA FALSE NA 0 1.242 rs115072063 intron_variant MODIFIER PA2G4 HGNC 8550 ENST00000303305 4/12 rs115072063 1 C:0.0042 C:0.0159 C:0 NA C:0 C:0 C:0 C:0.0127 C:0.0002 ATG T,C 0.001178 12:56107506 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 intron_variant 0.506416 0.31385 0.06645 0.069865 0.7997202 0.108913 0.998001 TRUE 0.000796463 ENSE00002361337_007 ENSE00002361337 007 12 56501261 56501430 + 44 93 33 C T 56501294 1963 34 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAAGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107509 56107510 56107510 upstr_intron -11 -0.2272727 ACAGACTTTCCAGGAAGATACTGATTGCATGTCTTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 806 566 0.9967945 0.9997205 0.9982575 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.06113473 0.07182628 0.99794 0.931777 NA 0.0664805 NA FALSE NA 0 0.031 . intron_variant MODIFIER PA2G4 HGNC 8550 ENST00000303305 4/12 1 NA CCT C,T 8.236e-06 12:56107510 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 intron_variant 1.170939 0.32998 0.06429 0.069865 0.7272731 0.47547 0.998001 TRUE 4.06322e-06 ENSE00002361337_008 ENSE00002361337 008 12 56501261 56501430 + 44 93 33 A C 56501308 1964 48 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGGCCCCTGTAGATAAGGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107523 56107524 56107524 exon 4 0.04301075 ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGCCCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 54 980 1 1 1 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.06434018 0.0721058 0.99794 0.931777 NA 0.06822299 NA FALSE NA 0.997 3.381 . missense_variant MODERATE PA2G4 HGNC 8550 ENST00000303305 5/13 1 tolerated(0.13) benign(0.063) NA GAC A,C 8.236e-06 12:56107524 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 missense_variant 2.203344 0.94401 0.94389 0.562547 0.9796695 0 0.998001 TRUE 4.06138e-06 ENSE00002361337_010 ENSE00002361337 010 12 56501261 56501430 + 44 93 33 C T 56501377 1966 117 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAAGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107592 56107593 56107593 exon -21 0.7849462 ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCTTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 372 382 0.9899623 0.9987559 0.9943591 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.05430248 0.07086173 0.99794 0.931777 NA 0.0625821 NA FALSE NA 0.662 1.161 . synonymous_variant LOW PA2G4 HGNC 8550 ENST00000303305 5/13 1 NA CCT C,T 8.236e-06 12:56107593 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 synonymous_variant 1.691233 0.95249 0.68215 0.706548 0.830932 0 0.998001 TRUE 4.0621e-06 ENSE00002361337_011 ENSE00002361337 011 12 56501261 56501430 + 44 93 33 C T 56501382 1967 122 AAACGAGCTTTGGAATTGGATAAAATAGCTTACCTGATTTCCAGGTTTAACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107597 56107598 56107598 exon -16 0.8387097 ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTTAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 190 283 1 0.9994407 0.9997204 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.06434018 0.07154655 0.99794 0.931777 NA 0.06794337 NA FALSE NA 0.899 0.106 . synonymous_variant LOW PA2G4 HGNC 8550 ENST00000303305 5/13 1 NA TCA C,T 2.471e-05 12:56107598 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 synonymous_variant 1.780522 0.94095 0.72457 0.706548 0.7928783 0 0.998001 TRUE 1.21872e-05 ENSE00002361337_012 ENSE00002361337 012 12 56501261 56501430 + 44 93 33 G A 56501397 1968 137 AAACGAGCTTTGGAATTGGATAAAATAGCTTACTTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107612 56107613 56107613 exon -1 1 ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAAGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant 29 14 0.85 0.85 0.85 NA NA NA NA NA 0.9988087 0.9970712 0.9356598 0.9278942 -0.1488087 -0.1470712 NA NA 0.99794 0.931777 -0.14794 NA NA NA FALSE 1 7.769 . splice_region_variant&synonymous_variant LOW PA2G4 HGNC 8550 ENST00000303305 5/13 1 NA AGG G,A 8.236e-06 12:56107613 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 splice_region_variant 1.833909 0.97317 0.95611 0.562547 0.9069529 0 0.998001 TRUE 8.12618e-06 ENSE00002361337_013 ENSE00002361337 013 12 56501261 56501430 + 44 93 33 G A 56501402 1969 142 AAACGAGCTTTGGAATTGGATAAAATAGTTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107617 56107618 56107618 downstr_intron 5 1.15625 ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAACTATTTTATCCAATTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 239 288 0.9380088 0.9504552 0.944232 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.002349003 0.022561 0.99794 0.931777 NA 0.012455 NA FALSE NA 0.993 1.779 . splice_region_variant&intron_variant LOW PA2G4 HGNC 8550 ENST00000303305 5/12 1 NA AGC G,A 8.236e-06 12:56107618 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 splice_region_variant 1.655688 0.62117 0.45399 0.099367 0.7865485 0.362861 0.998001 TRUE 4.06392e-06 ENSE00002361337_014 ENSE00002361337 014 12 56501261 56501430 + 44 93 33 A G 56501415 1970 155 AAACGAGCTTTGGAACTGGATAAAATAGCTTACCTGATTTCCAGGTTTGACCAGGCGTAGGGCAGCTTCAGCACAAAGGTGAGCTGCCTTAATAACATCTGCTTTCCTCCCTGTTACTTGGGTCCCCTGTAGATAAGGACATGCAATCAGTATCTTCCTGGAAAGTCTGT 56107476 56107646 56107630 56107631 56107631 downstr_intron 18 1.5625 ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAGTTCCAAAGCTCGTTT ACAGACTTTCCAGGAAGATACTGATTGCATGTCCTTATCTACAGGGGACCCAAGTAACAGGGAGGAAAGCAGATGTTATTAAGGCAGCTCACCTTTGTGCTGAAGCTGCCCTACGCCTGGTCAAACCTGGAAATCAGGTAAGCTATTTTATCCAATTCCAAAGCTCGTTT mutant NA NA NA NA NA 585 351 0.9959786 0.9962263 0.9961024 0.9988087 0.9970712 0.9356598 0.9278942 NA NA 0.0603188 0.06833209 0.99794 0.931777 NA 0.06432544 NA FALSE NA 0 -0.835 . intron_variant MODIFIER PA2G4 HGNC 8550 ENST00000303305 5/12 1 NA AAT A,G 1.647e-05 12:56107631 PA2G4 HGNC Symbol protein_coding 9588 ENSG00000170515 ENSE00003555016 intron_variant 0.293469 0.24918 0.05907 0.099367 0.5640287 0.0683829 0.998001 TRUE 2.03439e-05 ENSE00002361855_001 ENSE00002361855 001 17 33433373 33433542 - 32 96 42 G A 33433387 1449 156 CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGTCCCTCCTTGCTTAA 35106353 35106523 35106367 35106368 35106368 downstr_intron 18 1.580645 CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGTCCCTCCTTGCTTAA CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA mutant NA NA NA NA NA 14 20 1 0.9532338 0.9766169 NA NA 0.9855349 0.987719 NA NA 0.01446509 -0.03448514 NA 0.9866269 NA -0.01001003 NA FALSE NA 0 -0.182 . intron_variant&non_coding_transcript_variant MODIFIER RAD51D HGNC 9823 ENST00000590380 5/8 1 NA GGC G,A 6.589e-05 17:35106368 RAD51D HGNC Symbol protein_coding 29314 ENSG00000185379 ENSE00003639346 non_coding_transcript_exon_variant 0.157857 0.27188 0.03952 0.295142 0.5560398 0.160745 6.188046e-07 FALSE 4.12143e-05 ENSE00002361855_011 ENSE00002361855 011 17 33433373 33433542 - 32 96 42 C T 33433487 1459 56 CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCAGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA 35106353 35106523 35106467 35106468 35106468 exon 14 0.1458333 CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCAGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA mutant NA NA NA NA NA 172 18 1 1 1 NA NA 0.9855349 0.987719 NA NA 0.01446509 0.01228103 NA 0.9866269 NA 0.01337306 NA FALSE NA 1 1.325 rs4796033 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER RAD51D HGNC 9823 ENST00000590380 5/9 rs4796033 1 T:0.0950 T:0.0136 T:0.2205 NA T:0.0407 T:0.1292 T:0.137 T:0.0368 T:0.1427 CCG C,T 0.148 17:35106468 RAD51D HGNC Symbol protein_coding 29314 ENSG00000185379 ENSE00003639346 missense_variant 2.110111 0.88738 0.03875 0.732398 0.9147051 0 6.188046e-07 FALSE 0.156604 ENSE00002361855_018 ENSE00002361855 018 17 33433373 33433542 - 32 96 42 G A 33433508 1466 35 CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACTGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA 35106353 35106523 35106488 35106489 35106489 upstr_intron -8 -0.1666667 CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACTGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA mutant NA NA NA NA NA 177 103 0.7880516 0.8073103 0.7976809 NA NA 0.9855349 0.987719 NA NA -0.1974834 -0.1804087 NA 0.9866269 NA -0.188946 NA FALSE NA 0.001 0.446 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW RAD51D HGNC 9823 ENST00000590380 4/8 1 NA CGG G,A 3.296e-05 17:35106489 RAD51D HGNC Symbol protein_coding 29314 ENSG00000185379 ENSE00003639346 splice_region_variant 0.639764 0.24959 0.12751 0.099367 0.5555302 0.118853 6.188046e-07 FALSE 3.80373e-05 ENSE00002364231_012 ENSE00002364231 012 1 32121944 32122113 - 57 45 68 A G 32122048 983 66 CACCTGCCTCCCCAGGGAGCCTCAGAGATGCTGCCCGGACTTCACCTCTGACTTTTGCTTTCCTCCAGGGACCCCCTGGAAAGCAGGGATTCTATGGACCTCCTGGTCCCAAGGTGAGTGGGCACTGGCTGGGCTTGAGAGGAGAAGCTCACGAGTGGATGAAGCCCAGC 31656342 31656512 31656446 31656447 31656447 upstr_intron -3 -0.02941176 CACCTGCCTCCCCAGGGAGCCTCAGAGATGCTGCCCGGACTTCACCTCTGACTTTTGCTTTCCTCCAGGGACCCCCTGGAAAGCAGGGATTCTATGGACCTCCTGGTCCCAAGGTGAGTGGGCACTGGCTGGGCTTGAGAGGAGAAGCTCACGAGTGGATGAAGCCCAGC CACCTGCCTCCCCAGGGAGCCTCAGAGATGCTGCCCGGACTTCACCTCTGACTTTTGCTTTCCTCTAGGGACCCCCTGGAAAGCAGGGATTCTATGGACCTCCTGGTCCCAAGGTGAGTGGGCACTGGCTGGGCTTGAGAGGAGAAGCTCACGAGTGGATGAAGCCCAGC mutant 29 174 0.1689749 0.01125594 0.09011543 NA NA NA NA NA 0.8159086 0.85 0.8953889 0.9249601 -0.6469337 -0.8387441 NA NA 0.8329543 0.9101745 -0.7428389 NA NA NA TRUE 0.998 1.595 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW COL16A1 HGNC 2193 ENST00000488128 17/22 1 NA TAG A,G 8.275e-06 1:31656447 COL16A1 HGNC Symbol protein_coding 52072 ENSG00000084636 ENSE00003787901 splice_region_variant 1.268635 0.96545 0.62068 0.078448 0.8519968 0.477325 3.384735e-15 FALSE 4.15169e-06 ENSE00002365840_002 ENSE00002365840 002 2 178681523 178681692 - 33 93 44 C T 178681538 3352 155 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATATCAGGTTTGTATGCT 177816795 177816965 177816810 177816811 177816811 downstr_intron 18 1.5625 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATATCAGGTTTGTATGCT ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT mutant NA NA NA NA NA 253 38 1 0.8737107 0.9368554 NA NA 0.9912699 0.8624523 NA NA 0.008730108 0.01125843 NA 0.9268611 NA 0.009994267 NA FALSE NA 0.385 0.266 . intron_variant&non_coding_transcript_variant MODIFIER PDE11A HGNC 8773 ENST00000492761 6/6 1 NA ACA C,T 8.237e-06 2:177816811 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003814152 intron_variant 0.04078 0.16778 0.01103 0.061011 0.444444 0.062504 4.16725e-31 FALSE 8.13895e-06 ENSE00002365840_003 ENSE00002365840 003 2 178681523 178681692 - 33 93 44 A G 178681539 3353 154 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTACGTCAGGTTTGTATGCT 177816795 177816965 177816811 177816812 177816812 downstr_intron 17 1.53125 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTACGTCAGGTTTGTATGCT ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT mutant NA NA NA NA NA 21 162 1 0.9997647 0.9998824 NA NA 0.9912699 0.8624523 NA NA 0.008730108 0.1373124 NA 0.9268611 NA 0.07302126 NA FALSE NA 0.355 0.731 . intron_variant&non_coding_transcript_variant MODIFIER PDE11A HGNC 8773 ENST00000492761 6/6 1 NA CAT A,G 8.236e-06 2:177816812 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003814152 intron_variant -0.061754 0.16659 0.0176 0.061011 0.613637 0.062504 4.16725e-31 FALSE NA ENSE00002365840_006 ENSE00002365840 006 2 178681523 178681692 - 33 93 44 C T 178681574 3356 119 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAACAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT 177816795 177816965 177816846 177816847 177816847 exon -19 0.8064516 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAACAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT mutant NA NA NA NA NA 135 106 1 0.9996402 0.9998201 NA NA 0.9912699 0.8624523 NA NA 0.008730108 0.1371878 NA 0.9268611 NA 0.07295898 NA FALSE NA 1 2.831 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE11A HGNC 8773 ENST00000492761 6/7 1 NA GCT C,T 8.236e-06 2:177816847 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003814152 synonymous_variant 1.714369 0.98662 0.85674 0.487112 0.6129786 0 4.16725e-31 FALSE 4.07183e-06 ENSE00002365840_009 ENSE00002365840 009 2 178681523 178681692 - 33 93 44 T C 178681590 3359 103 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAGGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT 177816795 177816965 177816862 177816863 177816863 exon -35 0.6344086 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAGGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT mutant NA NA NA NA NA 36 19 1 1 1 NA NA 0.9912699 0.8624523 NA NA 0.008730108 0.1375477 NA 0.9268611 NA 0.0731389 NA FALSE NA 1 7.683 rs148955609 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE11A HGNC 8773 ENST00000492761 6/7 rs148955609 1 NA C:0 C:0.0001 CTT T,C 2.471e-05 2:177816863 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003814152 missense_variant 3.96433 0.9943 0.9705 0.487112 0.9979349 0 4.16725e-31 FALSE 2.4433e-05 ENSE00002365840_011 ENSE00002365840 011 2 178681523 178681692 - 33 93 44 T C 178681621 3361 72 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCGTCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT 177816795 177816965 177816893 177816894 177816894 exon 28 0.3010753 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCGTCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT mutant NA NA NA NA NA 12 42 1 1 1 NA NA 0.9912699 0.8624523 NA NA 0.008730108 0.1375477 NA 0.9268611 NA 0.0731389 NA FALSE NA 1 7.683 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE11A HGNC 8773 ENST00000492761 6/7 1 NA ATG T,C 1.647e-05 2:177816894 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003814152 missense_variant 5.555594 0.9943 0.9705 0.487112 0.9989263 0 4.16725e-31 FALSE 8.14564e-06 ENSE00002365840_012 ENSE00002365840 012 2 178681523 178681692 - 33 93 44 A G 178681635 3362 58 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTCTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT 177816795 177816965 177816907 177816908 177816908 exon 14 0.1505376 ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTCTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT mutant NA NA NA NA NA 76 617 1 1 1 NA NA 0.9912699 0.8624523 NA NA 0.008730108 0.1375477 NA 0.9268611 NA 0.0731389 NA FALSE NA 1 8.908 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER PDE11A HGNC 8773 ENST00000492761 6/7 1 NA AAA A,G 1.647e-05 2:177816908 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003814152 missense_variant 6.817648 0.99443 0.98164 0.487112 0.9986308 0 4.16725e-31 FALSE 2.85163e-05 ENSE00002365840_017 ENSE00002365840 017 2 178681523 178681692 - 33 93 44 C T 178681664 3367 29 ATGAGTTGCTGCAATGTTTAATTAGCAGATTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT 177816795 177816965 177816936 177816937 177816937 upstr_intron -16 -0.3409091 ATGAGTTGCTGCAATGTTTAATTAGCAGATTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT ATGAGTTGCTGCAATGTTTAATTAGCAGGTTTGCTCTTTCCTAGGCTTTTGTCATCTTTTGTGGACTTGGCATCAACAACACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGATGTAAGTACAGTGTTTATGTCAGGTTTGTATGCT mutant NA NA NA NA NA 26 209 1 0.9992425 0.9996213 NA NA 0.9912699 0.8624523 NA NA 0.008730108 0.1367902 NA 0.9268611 NA 0.07276016 NA FALSE NA 0.001 -0.16 . intron_variant&non_coding_transcript_variant MODIFIER PDE11A HGNC 8773 ENST00000492761 5/6 1 NA ACC C,T 2.471e-05 2:177816937 PDE11A HGNC Symbol protein_coding 449503 ENSG00000128655 ENSE00003814152 intron_variant 0.053137 0.2189 0.03199 0.061011 0.2602831 0.132276 4.16725e-31 FALSE 1.63275e-05 ENSE00002375185_002 ENSE00002375185 002 5 131322452 131322621 - 63 33 74 C G 131322471 1182 151 TCTGTGAGGACAGGCCCTGGACGCCATCTCGCTCAATAAAGACCTGCAGGTGAATTCGCTTACCACAGGAGCCTGGTGATTCTCTTGGCCACAGTCCTGAAAGAAGAAAATGCTGTTTTTAAATGCTCAAAAGTTCTCTCTCTCTCTCTTTCTGTCCCTCTGTCTCTGTC 131986758 131986928 131986777 131986778 131986778 downstr_intron 44 1.709677 GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTCCAGGGCCTGTCCTCACAGA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA mutant NA NA NA NA NA 83 23 1 1 1 0.9678025 0.9733596 0.9993779 0.9923538 NA NA 0.00062206 0.007646243 0.970581 0.9958658 NA 0.004134151 NA FALSE NA 0 -0.152 . intron_variant&non_coding_transcript_variant MODIFIER ACSL6 HGNC 16496 ENST00000489047 2/2 1 NA GCA C,G 2.471e-05 5:131986778 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003778534 intron_variant -0.121453 0.15728 0.05226 0.053691 0.4742186 0.0455939 0.08856227 FALSE 1.62462e-05 ENSE00002375185_014 ENSE00002375185 014 5 131322452 131322621 - 63 33 74 A G 131322521 1194 101 TCTGTGAGGACAGGCCCTGCACGCCATCTCGCTCAATAAAGACCTGCAGGTGAATTCGCTTACCACAGGGGCCTGGTGATTCTCTTGGCCACAGTCCTGAAAGAAGAAAATGCTGTTTTTAAATGCTCAAAAGTTCTCTCTCTCTCTCTTTCTGTCCCTCTGTCTCTGTC 131986758 131986928 131986827 131986828 131986828 exon -7 0.8181818 GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCCCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA mutant NA NA NA NA NA 181 2238 0.908831 0.8955379 0.9021845 0.9678025 0.9733596 0.9993779 0.9923538 NA NA -0.09054693 -0.09681586 0.970581 0.9958658 NA -0.0936814 NA FALSE NA 0.018 0.004 rs116530484 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACSL6 HGNC 16496 ENST00000489047 2/3 rs116530484 1 G:0.0018 G:0.0068 G:0 NA G:0 G:0 G:0 G:0.0048 G:0 GAG A,G 0.0005354 5:131986828 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003778534 synonymous_variant 0.144165 0.25515 0.02627 0.615465 0.4930778 0 0.08856227 FALSE 0.00037765 ENSE00002375185_015 ENSE00002375185 015 5 131322452 131322621 - 63 33 74 G T 131322527 1195 95 TCTGTGAGGACAGGCCCTGCACGCCATCTCGCTCAATAAAGACCTGCAGGTGAATTCGCTTACCACAGGAGCCTGTTGATTCTCTTGGCCACAGTCCTGAAAGAAGAAAATGCTGTTTTTAAATGCTCAAAAGTTCTCTCTCTCTCTCTTTCTGTCCCTCTGTCTCTGTC 131986758 131986928 131986833 131986834 131986834 exon -13 0.6363636 GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCAACAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA mutant NA NA NA NA NA 23 293 1 0.9932297 0.9966149 0.9678025 0.9733596 0.9993779 0.9923538 NA NA 0.00062206 0.0008759617 0.970581 0.9958658 NA 0.0007490108 NA FALSE NA 0.165 0.084 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACSL6 HGNC 16496 ENST00000489047 2/3 1 NA GGT G,T 8.236e-06 5:131986834 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003778534 missense_variant 0.236797 0.21783 0.05879 0.615465 0.7583161 0 0.08856227 FALSE 1.62427e-05 ENSE00002375185_016 ENSE00002375185 016 5 131322452 131322621 - 63 33 74 A G 131322542 1196 80 TCTGTGAGGACAGGCCCTGCACGCCATCTCGCTCAATAAAGACCTGCAGGTGAATTCGCTTACCACAGGAGCCTGGTGATTCTCTTGGCCGCAGTCCTGAAAGAAGAAAATGCTGTTTTTAAATGCTCAAAAGTTCTCTCTCTCTCTCTTTCTGTCCCTCTGTCTCTGTC 131986758 131986928 131986848 131986849 131986849 exon 6 0.1818182 GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGCGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA mutant NA NA NA NA NA 68 52 1 0.951393 0.9756965 0.9678025 0.9733596 0.9993779 0.9923538 NA NA 0.00062206 -0.04096079 0.970581 0.9958658 NA -0.02016936 NA FALSE NA 1 0.8 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER ACSL6 HGNC 16496 ENST00000489047 2/3 1 NA CAC A,G 8.236e-06 5:131986849 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003778534 synonymous_variant 0.165487 0.96383 0.80346 0.554377 0.6623595 0 0.08856227 FALSE 4.06098e-06 ENSE00002375185_021 ENSE00002375185 021 5 131322452 131322621 - 63 33 74 A G 131322574 1201 48 TCTGTGAGGACAGGCCCTGCACGCCATCTCGCTCAATAAAGACCTGCAGGTGAATTCGCTTACCACAGGAGCCTGGTGATTCTCTTGGCCACAGTCCTGAAAGAAGAAAATGCTGTTTTTAAGTGCTCAAAAGTTCTCTCTCTCTCTCTTTCTGTCCCTCTGTCTCTGTC 131986758 131986928 131986880 131986881 131986881 upstr_intron -27 -0.3513514 GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCACTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA mutant NA NA NA NA NA 344 54 0.9939865 0.9647037 0.9793451 0.9678025 0.9733596 0.9993779 0.9923538 NA NA -0.005391444 -0.02765002 0.970581 0.9958658 NA -0.01652073 NA FALSE NA 0.983 1.547 . intron_variant&non_coding_transcript_variant MODIFIER ACSL6 HGNC 16496 ENST00000489047 1/2 1 NA AAT A,G 8.236e-06 5:131986881 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003778534 intron_variant 2.238895 0.9287 0.84916 0.053691 0.7963881 0.123644 0.08856227 FALSE 8.14697e-06 ENSE00002375185_022 ENSE00002375185 022 5 131322452 131322621 - 63 33 74 G A 131322584 1202 38 TCTGTGAGGACAGGCCCTGCACGCCATCTCGCTCAATAAAGACCTGCAGGTGAATTCGCTTACCACAGGAGCCTGGTGATTCTCTTGGCCACAGTCCTGAAAGAAGAAAATGCTGTTTTTAAATGCTCAAAAATTCTCTCTCTCTCTCTTTCTGTCCCTCTGTCTCTGTC 131986758 131986928 131986890 131986891 131986891 upstr_intron -37 -0.4864865 GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAATTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA mutant NA NA NA NA NA 53 104 1 1 1 0.9678025 0.9733596 0.9993779 0.9923538 NA NA 0.00062206 0.007646243 0.970581 0.9958658 NA 0.004134151 NA FALSE NA 0.008 -0.198 . intron_variant&non_coding_transcript_variant MODIFIER ACSL6 HGNC 16496 ENST00000489047 1/2 1 NA AGT G,A 8.237e-06 5:131986891 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003778534 intron_variant 0.87458 0.31291 0.05961 0.053691 0.7002141 0.0455939 0.08856227 FALSE 4.1113e-06 ENSE00002376718_029 ENSE00002376718 029 7 30962129 30962298 + 50 81 39 G A 30962287 834 159 CACCTATGACTCTCTGCCTTCGCCCCTCCCTCTGTTTCTTTCCCTCACAGATTGACTACACTGGCTGTGGGATTAACCCTGCTCGGTCCTTTGGCTCCGCGGTGATCACACACAACTTCAGCAACCACTGGGTAGGAGACCCACGGGGGGTGGGGTGGAAAGCTTTGGTG 30922513 30922683 30922671 30922672 30922672 downstr_intron 28 1.736842 CACCTATGACTCTCTGCCTTCGCCCCTCCCTCTGTTTCTTTCCCTCACAGATTGACTACACTGGCTGTGGGATTAACCCTGCTCGGTCCTTTGGCTCCGCGGTGATCACACACAACTTCAGCAACCACTGGGTAGGAGACCCACGGGGGGTGGGGTGGAAAGCTTTGGTG CACCTATGACTCTCTGCCTTCGCCCCTCCCTCTGTTTCTTTCCCTCACAGATTGACTACACTGGCTGTGGGATTAACCCTGCTCGGTCCTTTGGCTCCGCGGTGATCACACACAACTTCAGCAACCACTGGGTAGGAGACCCACGGGGGGTGGGGTGGGAAGCTTTGGTG mutant NA NA NA NA NA 47 44 0.9927777 0.9514824 0.97213 0.9989936 0.9951093 0.8856236 0.9973503 NA NA 0.1071541 -0.04586788 0.9970515 0.9414869 NA 0.03064311 NA FALSE NA 0.593 1.272 . intron_variant MODIFIER AQP1 HGNC 633 ENST00000409899 3/3 1 NA GGA G,A 8.236e-06 7:30922672 AQP1 HGNC Symbol protein_coding 13822 ENSG00000240583 ENSE00003619210 intron_variant 0.1852 0.18703 0.24761 0.048788 0.5016955 0.0821554 0.04992564 FALSE 4.06161e-06 ENSE00002377628_002 ENSE00002377628 002 12 105459010 105459179 - 35 90 45 G A 105459022 3016 158 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCTCCACCCCCCTCC 105065231 105065401 105065243 105065244 105065244 downstr_intron 23 1.676471 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCTCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 846 1130 0.992333 0.9979494 0.9951412 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.01862222 0.03664912 0.9676677 0.9675055 NA 0.02763567 NA FALSE NA 0 -0.044 . intron_variant MODIFIER ALDH1L2 HGNC 26777 ENST00000424857 6/12 1 NA GGG G,A 1.647e-05 12:105065244 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 intron_variant -0.036584 0.09687 0.001 0.074636 0.4344993 0.0455718 3.500102e-11 FALSE 8.17194e-06 ENSE00002377628_003 ENSE00002377628 003 12 105459010 105459179 - 35 90 45 G T 105459025 3017 155 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTACCCCCACCCCCCTCC 105065231 105065401 105065246 105065247 105065247 downstr_intron 20 1.588235 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTACCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 154 329 1 1 1 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02628923 0.03869972 0.9676677 0.9675055 NA 0.03249448 NA FALSE NA 0 0.913 . intron_variant MODIFIER ALDH1L2 HGNC 26777 ENST00000424857 6/12 1 NA GGA G,T 8.236e-06 12:105065247 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 intron_variant -0.661317 0.13313 0.0149 0.074636 0.3240229 0.0455718 3.500102e-11 FALSE NA ENSE00002377628_004 ENSE00002377628 004 12 105459010 105459179 - 35 90 45 A G 105459026 3018 154 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACCCCCCCCACCCCCCTCC 105065231 105065401 105065247 105065248 105065248 downstr_intron 19 1.558824 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACCCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 537 362 0.9213101 0.9901947 0.9557524 0.9899191 0.9454164 0.9737108 0.9613003 NA NA -0.0524007 0.0288944 0.9676677 0.9675055 NA -0.01175315 NA FALSE NA 0 0.027 . intron_variant MODIFIER ALDH1L2 HGNC 26777 ENST00000424857 6/12 1 NA GAG A,G 8.236e-06 12:105065248 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 intron_variant -0.254337 0.17915 0.01106 0.074636 0.2911323 0.0455718 3.500102e-11 FALSE NA ENSE00002377628_005 ENSE00002377628 005 12 105459010 105459179 - 35 90 45 C T 105459032 3019 148 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGAACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065253 105065254 105065254 downstr_intron 13 1.382353 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGAACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 1381 724 0.9991026 0.9861451 0.9926238 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02539179 0.02484479 0.9676677 0.9675055 NA 0.02511829 NA FALSE NA 0 -0.383 . intron_variant MODIFIER ALDH1L2 HGNC 26777 ENST00000424857 6/12 1 NA TCC C,T 8.236e-06 12:105065254 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 intron_variant 0.230653 0.29798 0.12174 0.074636 0.2943882 0.0455718 3.500102e-11 FALSE 4.06841e-06 ENSE00002377628_006 ENSE00002377628 006 12 105459010 105459179 - 35 90 45 C T 105459034 3020 146 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAAGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065255 105065256 105065256 downstr_intron 11 1.323529 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAAGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 450 1613 0.9982493 0.9983523 0.9983008 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02453857 0.03705201 0.9676677 0.9675055 NA 0.03079529 NA FALSE NA 0 0.121 . intron_variant MODIFIER ALDH1L2 HGNC 26777 ENST00000424857 6/12 1 NA CCT C,T 8.236e-06 12:105065256 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 intron_variant -0.327095 0.22732 0.02972 0.074636 0.5403642 0.113859 3.500102e-11 FALSE 8.13378e-06 ENSE00002377628_007 ENSE00002377628 007 12 105459010 105459179 - 35 90 45 G A 105459061 3021 119 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGATAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065282 105065283 105065283 exon -17 0.8222222 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGATAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 1098 505 0.9564474 0.9996867 0.9780671 0.9899191 0.9454164 0.9737108 0.9613003 NA NA -0.01726333 0.03838642 0.9676677 0.9675055 NA 0.01056155 NA FALSE NA 0.996 6.27 . missense_variant MODERATE ALDH1L2 HGNC 26777 ENST00000424857 6/13 1 possibly_damaging(0.579) NA TGT G,A 8.236e-06 12:105065283 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 missense_variant 3.695468 0.7434 0.9374 0.638212 0.9986431 0 3.500102e-11 FALSE 8.12513e-06 ENSE00002377628_008 ENSE00002377628 008 12 105459010 105459179 - 35 90 45 T C 105459062 3022 118 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGGCAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065283 105065284 105065284 exon -18 0.8111111 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGGCAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 46 286 0.9945054 1 0.9972527 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.0207946 0.03869972 0.9676677 0.9675055 NA 0.02974716 NA FALSE NA 0.667 -0.223 . missense_variant MODERATE ALDH1L2 HGNC 26777 ENST00000424857 6/13 1 benign(0.007) NA GTC T,C 1.647e-05 12:105065284 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 missense_variant -0.630049 0.35959 0.21165 0.638212 0.8509241 0 3.500102e-11 FALSE 8.1246e-06 ENSE00002377628_009 ENSE00002377628 009 12 105459010 105459179 - 35 90 45 A G 105459066 3023 114 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCCTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065287 105065288 105065288 exon -22 0.7666667 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCCTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 741 373 0.9992199 1 0.9996099 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02550909 0.03869972 0.9676677 0.9675055 NA 0.03210441 NA FALSE NA 0.741 -0.143 . synonymous_variant LOW ALDH1L2 HGNC 26777 ENST00000424857 6/13 1 NA AAG A,G 2.471e-05 12:105065288 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 synonymous_variant 0.676629 0.95849 0.33706 0.638212 0.6227966 0 3.500102e-11 FALSE 2.84361e-05 ENSE00002377628_011 ENSE00002377628 011 12 105459010 105459179 - 35 90 45 C T 105459091 3025 89 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCAAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065312 105065313 105065313 exon 44 0.4888889 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCAAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 1175 661 0.9356766 0.997604 0.9666403 0.9899191 0.9454164 0.9737108 0.9613003 NA NA -0.03803418 0.03630368 0.9676677 0.9675055 NA -0.0008652526 NA FALSE NA 1 7.414 . missense_variant MODERATE ALDH1L2 HGNC 26777 ENST00000424857 6/13 rs374756865 1 probably_damaging(1) NA T:0 T:0.0001 TCG C,T 1.647e-05 12:105065313 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 missense_variant 7.985131 0.99486 0.98627 0.638212 0.9996134 0 3.500102e-11 FALSE 1.62464e-05 ENSE00002377628_014 ENSE00002377628 014 12 105459010 105459179 - 35 90 45 C T 105459120 3028 60 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAATCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065341 105065342 105065342 exon 15 0.1666667 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAATCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 102 1604 1 0.9989139 0.9994569 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02628923 0.03761359 0.9676677 0.9675055 NA 0.03195141 NA FALSE NA 0.999 1.134 . synonymous_variant LOW ALDH1L2 HGNC 26777 ENST00000424857 6/13 rs570455250 1 T:0.0004 T:0 T:0 NA T:0 T:0 T:0.002 ACT C,T 0.0002224 12:105065342 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 synonymous_variant 0.682071 0.9761 0.82378 0.638212 0.5276057 0 3.500102e-11 FALSE 0.00025591 ENSE00002377628_015 ENSE00002377628 015 12 105459010 105459179 - 35 90 45 A T 105459131 3029 49 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTACTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065352 105065353 105065353 exon 4 0.04444444 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTACTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 180 236 1 0.9219239 0.960962 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02628923 -0.03937636 0.9676677 0.9675055 NA -0.006543565 NA FALSE NA 1 1.076 . missense_variant MODERATE ALDH1L2 HGNC 26777 ENST00000424857 6/13 1 benign(0.062) NA GAA A,T 1.647e-05 12:105065353 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 missense_variant 2.502542 0.96497 0.77034 0.638212 0.9752783 0 3.500102e-11 FALSE 8.12466e-06 ENSE00002377628_016 ENSE00002377628 016 12 105459010 105459179 - 35 90 45 T C 105459134 3030 46 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGGTTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065355 105065356 105065356 exon 1 0.01111111 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGGTTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 348 700 0.9991692 0.9988501 0.9990097 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02545847 0.03754978 0.9676677 0.9675055 NA 0.03150413 NA FALSE NA 1 2.479 . missense_variant&splice_region_variant MODERATE ALDH1L2 HGNC 26777 ENST00000424857 6/13 rs377303998 1 benign(0.045) NA C:0 C:0.0001 ATC T,C 8.236e-06 12:105065356 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 missense_variant 1.716934 0.98416 0.85523 0.638212 0.9930466 0 3.500102e-11 FALSE 4.0622e-06 ENSE00002377628_018 ENSE00002377628 018 12 105459010 105459179 - 35 90 45 G T 105459138 3032 42 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCATAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065359 105065360 105065360 upstr_intron -4 -0.06666667 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCATAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 749 921 0.9980712 1 0.9990356 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02436046 0.03869972 0.9676677 0.9675055 NA 0.03153009 NA FALSE NA 0.997 1.896 . splice_region_variant&intron_variant LOW ALDH1L2 HGNC 26777 ENST00000424857 5/12 1 NA AGG G,T 8.236e-06 12:105065360 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 splice_region_variant 1.474436 0.98229 0.9177 0.074636 0.8964148 0.829561 3.500102e-11 FALSE 8.12519e-06 ENSE00002377628_019 ENSE00002377628 019 12 105459010 105459179 - 35 90 45 G A 105459139 3033 41 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTTCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065360 105065361 105065361 upstr_intron -5 -0.08888889 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTTCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 958 672 0.9410744 0.9906808 0.9658776 0.9899191 0.9454164 0.9737108 0.9613003 NA NA -0.0326364 0.02938055 0.9676677 0.9675055 NA -0.001627925 NA FALSE NA 0.646 0.852 . splice_region_variant&intron_variant LOW ALDH1L2 HGNC 26777 ENST00000424857 5/12 1 NA GGA G,A 8.236e-06 12:105065361 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 splice_region_variant 1.07559 0.26874 0.38958 0.074636 0.5846114 0.327306 3.500102e-11 FALSE 4.06263e-06 ENSE00002377628_020 ENSE00002377628 020 12 105459010 105459179 - 35 90 45 A C 105459140 3034 40 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTGCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065361 105065362 105065362 upstr_intron -6 -0.1111111 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTGCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 605 337 0.9573353 0.9839116 0.9706235 0.9899191 0.9454164 0.9737108 0.9613003 NA NA -0.01637544 0.02261137 0.9676677 0.9675055 NA 0.003117964 NA FALSE NA 0.001 -0.076 . splice_region_variant&intron_variant LOW ALDH1L2 HGNC 26777 ENST00000424857 5/12 1 NA GAA A,C 1.647e-05 12:105065362 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 splice_region_variant 0.615751 0.26786 0.11316 0.061011 0.5572481 0.333151 3.500102e-11 FALSE 1.21875e-05 ENSE00002377628_022 ENSE00002377628 022 12 105459010 105459179 - 35 90 45 A G 105459147 3036 33 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTCGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065368 105065369 105065369 upstr_intron -13 -0.2666667 GTTCACAGCCATAGGAGGCTCAGCCTGTATTTCGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 315 203 1 1 1 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.02628923 0.03869972 0.9676677 0.9675055 NA 0.03249448 NA FALSE NA 0.28 0.96 . intron_variant MODIFIER ALDH1L2 HGNC 26777 ENST00000424857 5/12 1 NA CAA A,G 8.236e-06 12:105065369 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 intron_variant 0.069567 0.27937 0.09206 0.061011 0.5258328 0.206439 3.500102e-11 FALSE 4.06312e-06 ENSE00002377628_023 ENSE00002377628 023 12 105459010 105459179 - 35 90 45 T C 105459151 3037 29 GTTCACAGCCATAGGAGGCTCAGCCTGTGTTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC 105065231 105065401 105065372 105065373 105065373 upstr_intron -17 -0.3555556 GTTCACAGCCATAGGAGGCTCAGCCTGTGTTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC GTTCACAGCCATAGGAGGCTCAGCCTGTATTTTGTGCCTTCCTAGATTTCTTGGGACCAGTCTGCCGAAGTTTTACATAACTGGATTCGAGGTCATGATAAAGTCCCTGGAGCTTGGACAGAGATAAATGGACAGGTATGTTTTAGGGACCACTCCCCCCACCCCCCTCC mutant NA NA NA NA NA 605 2259 0.9980924 0.9959239 0.9970082 0.9899191 0.9454164 0.9737108 0.9613003 NA NA 0.0243816 0.03462365 0.9676677 0.9675055 NA 0.02950263 NA FALSE NA 0 -0.051 . intron_variant MODIFIER ALDH1L2 HGNC 26777 ENST00000424857 5/12 1 NA ATA C,C 2.471e-05 12:105065373 ALDH1L2 HGNC Symbol protein_coding 64793 ENSG00000136010 ENSE00003566583 intron_variant 0.151239 0.14231 0.01081 0.061011 0.6320708 0.208226 3.500102e-11 FALSE 3.65759e-05 ENSE00002385748_001 ENSE00002385748 001 17 10397639 10397808 - 32 96 42 C A 10397649 705 160 AGAAAAATCAACCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494331 10494332 10494332 downstr_intron 22 1.709677 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGTTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 63 398 1 1 1 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.1362207 0.9646702 0.9187313 NA 0.08126869 NA FALSE NA 0 -0.806 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA ACC C,A 4.942e-05 17:10494332 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 intron_variant 0.298267 0.22839 0.10858 0.080754 0.5598133 0.046875 NA NA 2.05933e-05 ENSE00002385748_002 ENSE00002385748 002 17 10397639 10397808 - 32 96 42 C T 10397650 706 159 AGAAAAATCACTCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494332 10494333 10494333 downstr_intron 21 1.677419 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGAGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 133 1928 0.9863316 0.9980418 0.9921867 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.01264825 0.1342625 0.9646702 0.9187313 NA 0.07345539 NA FALSE NA 0 -3.694 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs376356418 1 NA CCC C,T 8.236e-06 17:10494333 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 intron_variant 0.299773 0.17055 0.02068 0.080754 0.5668946 0.046875 NA NA 4.11506e-06 ENSE00002385748_004 ENSE00002385748 004 17 10397639 10397808 - 32 96 42 C T 10397652 708 157 AGAAAAATCACCCTAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494334 10494335 10494335 downstr_intron 19 1.612903 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTAGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 77 450 0.9972967 1 0.9986483 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02361331 0.1362207 0.9646702 0.9187313 NA 0.07991701 NA FALSE NA 0 -0.209 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA CCA C,T 1.647e-05 17:10494335 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 intron_variant 0.170634 0.26361 0.05195 0.080754 0.5880846 0.046875 NA NA 1.64449e-05 ENSE00002385748_006 ENSE00002385748 006 17 10397639 10397808 - 32 96 42 G A 10397663 710 146 AGAAAAATCACCCCAAGGGGTTGTAAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494345 10494346 10494346 downstr_intron 8 1.258065 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTTACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 2147 451 0.9991315 0.999298 0.9992147 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02544812 0.1355187 0.9646702 0.9187313 NA 0.08048342 NA FALSE NA 0.021 0.147 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs376956886 1 NA A:0.0005 A:0 TGA G,A 1.647e-05 17:10494346 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 splice_region_variant 0.728464 0.21021 0.02282 0.080754 0.7536934 0.145547 NA NA 4.06491e-06 ENSE00002385748_014 ENSE00002385748 014 17 10397639 10397808 - 32 96 42 C T 10397687 718 122 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTTTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494369 10494370 10494370 exon -17 0.8333333 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAAACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 99 66 1 1 1 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.1362207 0.9646702 0.9187313 NA 0.08126869 NA FALSE NA 1 3.331 rs142153967 intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs142153967 1 NA T:0.0002 T:0.0003 TCT C,T 0.0003212 17:10494370 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 missense_variant 5.87657 0.9951 0.96632 0.500041 0.9913607 0 NA NA 0.000312701 ENSE00002385748_015 ENSE00002385748 015 17 10397639 10397808 - 32 96 42 T C 10397693 719 116 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGCAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494375 10494376 10494376 exon -23 0.7708333 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTGCAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 206 310 0.9992553 1 0.9996276 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02557194 0.1362207 0.9646702 0.9187313 NA 0.08089633 NA FALSE NA 1 7.993 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA GTA T,C 8.236e-06 17:10494376 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 missense_variant 3.740145 0.99322 0.98899 0.500041 0.9978108 0 NA NA 4.06105e-06 ENSE00002385748_016 ENSE00002385748 016 17 10397639 10397808 - 32 96 42 T G 10397700 720 109 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTGCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494382 10494383 10494383 exon -30 0.6979167 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGCAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 997 1568 0.9990467 0.9928745 0.9959606 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02536339 0.1290952 0.9646702 0.9187313 NA 0.0772293 NA FALSE NA 1 7.993 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA TTC T,G 8.236e-06 17:10494383 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 missense_variant 4.670702 0.99348 0.99078 0.500041 0.9958261 0 NA NA 4.06085e-06 ENSE00002385748_019 ENSE00002385748 019 17 10397639 10397808 - 32 96 42 C G 10397725 723 84 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACGAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494407 10494408 10494408 exon 42 0.4375 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTCGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 785 1555 1 0.9998983 0.9999491 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.136119 0.9646702 0.9187313 NA 0.08121783 NA FALSE NA 0.297 -0.099 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs553020540 1 G:0.0002 G:0 G:0 NA G:0 G:0.001 G:0 CCA C,G 8.236e-06 17:10494408 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 synonymous_variant 0.826378 0.9734 0.72099 0.487112 0.7204771 0 NA NA 1.62441e-05 ENSE00002385748_020 ENSE00002385748 020 17 10397639 10397808 - 32 96 42 G A 10397727 724 82 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAAGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494409 10494410 10494410 exon 40 0.4166667 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACTTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant 23 11 1 1 1 NA NA NA NA NA 0.9655248 0.9638156 0.9736833 0.8637793 0.03447521 0.03618441 NA NA 0.9646702 0.9187313 0.03532981 NA NA NA FALSE 1 2.758 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA AGG G,A 8.236e-06 17:10494410 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 synonymous_variant 0.749432 0.98232 0.93151 0.487112 0.7978357 0 NA NA 1.21833e-05 ENSE00002385748_023 ENSE00002385748 023 17 10397639 10397808 - 32 96 42 T C 10397750 727 59 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCCTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494432 10494433 10494433 exon 17 0.1770833 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAGGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 615 474 0.9959204 0.9993436 0.997632 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02223709 0.1355643 0.9646702 0.9187313 NA 0.07890069 NA FALSE NA 1 7.971 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA CTT T,C 8.236e-06 17:10494433 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 missense_variant 5.97607 0.99221 0.99622 0.487112 0.9990894 0 NA NA 4.06428e-06 ENSE00002385748_026 ENSE00002385748 026 17 10397639 10397808 - 32 96 42 G A 10397754 730 55 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCAGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494436 10494437 10494437 exon 13 0.1354167 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACTGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 567 212 0.9932575 0.9998203 0.9965389 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.01957415 0.136041 0.9646702 0.9187313 NA 0.07780758 NA FALSE NA 0.876 0.454 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs201454258 1 NA CGG G,A 0.0001812 17:10494437 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 missense_variant 7.486154 0.97427 0.80934 0.487112 0.9951848 0 NA NA 0.000203267 ENSE00002385748_027 ENSE00002385748 027 17 10397639 10397808 - 32 96 42 G A 10397755 731 54 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGATCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494437 10494438 10494438 exon 12 0.125 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGATCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 120 135 1 0.9885156 0.9942578 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.1247363 0.9646702 0.9187313 NA 0.07552648 NA FALSE NA 1 2.404 rs151180649 intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 rs151180649 1 A:0.0010 A:0 A:0.0014 NA A:0 A:0.003 A:0.001 A:0.0007 A:0.0045 GGT G,A 0.0028 17:10494438 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 synonymous_variant 0.658248 0.9862 0.95634 0.487112 0.7319012 0 NA NA 0.00273938 ENSE00002385748_028 ENSE00002385748 028 17 10397639 10397808 - 32 96 42 C T 10397760 732 49 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTTCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494442 10494443 10494443 exon 7 0.07291667 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGAAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 303 1480 1 0.9990133 0.9995067 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.135234 0.9646702 0.9187313 NA 0.08077534 NA FALSE NA 1 7.751 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA TCC C,T 8.236e-06 17:10494443 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 missense_variant 7.143345 0.99418 0.99622 0.487112 0.997403 0 NA NA 4.06769e-06 ENSE00002385748_031 ENSE00002385748 031 17 10397639 10397808 - 32 96 42 A G 10397783 735 26 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCGAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494465 10494466 10494466 upstr_intron -17 -0.3809524 TTTGTACTTTCAAGAAACTTACTCTCGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 79 717 1 0.9983374 0.9991687 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.1345581 0.9646702 0.9187313 NA 0.0804374 NA FALSE NA 0.068 0.586 . intron_variant&non_coding_transcript_variant MODIFIER CTC-297N7.11 Clone_based_vega_gene NA ENST00000587182 2/10 1 NA CAA A,G 8.236e-06 17:10494466 MYHAS HGNC Symbol antisense 240742 ENSG00000272975 ENSE00002385748 intron_variant 0.259266 0.22556 0.22906 0.061011 0.6076714 0.125952 NA NA 4.095e-06 ENSE00002389183_001 ENSE00002389183 001 1 206943127 206943296 - 47 66 57 G T 206943138 4890 159 GCATGGGTTGTTCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769792 206769793 206769793 downstr_intron 36 1.782609 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGAACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 1036 696 0.9515171 0.9992627 0.9753899 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.04911841 0.00898995 0.9898829 0.9463357 NA 0.02905418 NA FALSE NA 0 0.002 rs139075401 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL10 HGNC 5962 ENST00000367099 2/2 rs139075401 1 T:0.0002 T:0 T:0 NA T:0.001 T:0 T:0 TGC G,T 8.236e-06 1:206769793 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 non_coding_transcript_exon_variant 0.018769 0.33513 0.09022 0.06567 0.7360182 0.0829585 0.02916223 FALSE NA ENSE00002389183_002 ENSE00002389183 002 1 206943127 206943296 - 47 66 57 C G 206943148 4891 149 GCATGGGTTGTGCTCTGCAGAGCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769802 206769803 206769803 downstr_intron 26 1.565217 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGCTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 406 193 0.9995938 0.992354 0.9959739 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09719511 0.002081268 0.9898829 0.9463357 NA 0.04963819 NA FALSE NA 0 -0.923 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL10 HGNC 5962 ENST00000367099 2/2 1 NA ACC C,G 3.295e-05 1:206769803 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 non_coding_transcript_exon_variant 0.651406 0.33875 0.04663 0.06567 0.7120178 0.0831005 0.02916223 FALSE 2.03303e-05 ENSE00002389183_003 ENSE00002389183 003 1 206943127 206943296 - 47 66 57 G A 206943168 4892 129 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAACTCACCTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769822 206769823 206769823 downstr_intron 6 1.130435 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGTTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 231 336 1 0.9997731 0.9998866 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09760127 0.009500385 0.9898829 0.9463357 NA 0.05355083 NA FALSE NA 0.002 -0.252 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL10 HGNC 5962 ENST00000367099 2/2 1 NA AGC G,A 8.236e-06 1:206769823 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 splice_region_variant 0.348861 0.33369 0.02901 0.06567 0.7159396 0.213034 0.02916223 FALSE 8.12698e-06 ENSE00002389183_004 ENSE00002389183 004 1 206943127 206943296 - 47 66 57 G C 206943183 4893 114 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAACGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769837 206769838 206769838 exon -10 0.8636364 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCGTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 266 35 1 1 1 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09760127 0.009727235 0.9898829 0.9463357 NA 0.05366425 NA FALSE NA 0 -0.722 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL10 HGNC 5962 ENST00000367099 2/2 1 NA AGG G,C 8.236e-06 1:206769838 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 synonymous_variant -0.589478 0.30292 0.04063 0.446893 0.6109818 0 0.02916223 FALSE NA ENSE00002389183_009 ENSE00002389183 009 1 206943127 206943296 - 47 66 57 C A 206943235 4898 62 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATAGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769889 206769890 206769890 exon 5 0.07575758 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCTATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 128 25 1 1 1 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09760127 0.009727235 0.9898829 0.9463357 NA 0.05366425 NA FALSE NA 0.997 2.619 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER IL10 HGNC 5962 ENST00000367099 2/2 1 NA TCG C,A 0.0001483 1:206769890 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 missense_variant 7.337806 0.95191 0.78102 0.446893 0.9979609 0 0.02916223 FALSE 7.31475e-05 ENSE00002389183_011 ENSE00002389183 011 1 206943127 206943296 - 47 66 57 G A 206943255 4900 42 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAAAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769909 206769910 206769910 upstr_intron -16 -0.2631579 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTTTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 344 487 1 0.9955829 0.9977914 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09760127 0.005310096 0.9898829 0.9463357 NA 0.05145568 NA FALSE NA 0.002 -0.416 . intron_variant&non_coding_transcript_variant MODIFIER IL10 HGNC 5962 ENST00000367099 1/1 1 NA AGA G,A 1.647e-05 1:206769910 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 intron_variant 2.118979 0.30086 0.02885 0.06567 0.9088509 0.386278 0.02916223 FALSE 4.06626e-06 ENSE00002389183_012 ENSE00002389183 012 1 206943127 206943296 - 47 66 57 A C 206943258 4901 39 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGGCATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAACGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769912 206769913 206769913 upstr_intron -19 -0.3157895 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACGTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 590 109 1 0.9992986 0.9996493 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09760127 0.009025874 0.9898829 0.9463357 NA 0.05331357 NA FALSE NA 0.015 2.056 . intron_variant&non_coding_transcript_variant MODIFIER IL10 HGNC 5962 ENST00000367099 1/1 1 NA AAG A,C 4.118e-05 1:206769913 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 intron_variant 1.59316 0.44307 0.21232 0.06567 0.8951493 0.832157 0.02916223 FALSE 2.03312e-05 ENSE00002391992_003 ENSE00002391992 003 15 65222979 65223148 + 41 99 30 C T 65223005 1422 27 TCTCTGGTCTGCTGGCCTCTCAGGAGTCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930806 64930807 64930807 upstr_intron -15 -0.3414634 TCTCTGGTCTGCTGGCCTCTCAGGAGTCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 196 68 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 0 -0.315 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 6/14 1 NA GCC C,T 8.241e-06 15:64930807 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 intron_variant 0.37768 0.18764 0.05524 0.119485 0.706346 0.0552992 1.161072e-15 FALSE 4.22151e-06 ENSE00002391992_004 ENSE00002391992 004 15 65222979 65223148 + 41 99 30 C G 65223006 1423 28 TCTCTGGTCTGCTGGCCTCTCAGGAGCGCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930807 64930808 64930808 upstr_intron -14 -0.3170732 TCTCTGGTCTGCTGGCCTCTCAGGAGCGCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 44 2562 0.9603211 0.9971099 0.9787155 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1148033 0.003921717 0.9972807 0.919353 NA 0.05936252 NA FALSE NA 0 0.245 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 6/14 1 NA CCC C,G 8.24e-06 15:64930808 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 intron_variant 0.410538 0.24461 0.10078 0.119485 0.7133787 0.0552992 1.161072e-15 FALSE 4.20836e-06 ENSE00002391992_005 ENSE00002391992 005 15 65222979 65223148 + 41 99 30 C T 65223007 1424 29 TCTCTGGTCTGCTGGCCTCTCAGGAGCCTTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930808 64930809 64930809 upstr_intron -13 -0.2926829 TCTCTGGTCTGCTGGCCTCTCAGGAGCCTTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 139 107 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 0 0.688 . intron_variant MODIFIER ANKDD1A HGNC 28002 ENST00000395720 6/14 1 NA CCT C,T 8.24e-06 15:64930809 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 intron_variant 0.552501 0.24039 0.09371 0.119485 0.7460809 0.0552992 1.161072e-15 FALSE 4.22262e-06 ENSE00002391992_006 ENSE00002391992 006 15 65222979 65223148 + 41 99 30 G A 65223022 1425 44 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAAGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930823 64930824 64930824 exon 3 0.03030303 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAAGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 357 223 0.9998847 0.9723641 0.9861244 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1543669 -0.02082404 0.9972807 0.919353 NA 0.06677142 NA FALSE NA 0.993 0.165 rs139114546 splice_region_variant&synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 7/15 rs139114546 1 A:0.0056 A:0.0212 A:0 NA A:0 A:0 A:0 A:0.0139 A:0 AGG G,A 0.001433 15:64930824 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 splice_region_variant 0.852327 0.82268 0.31117 0.713056 0.7021104 0 1.161072e-15 FALSE 0.00110553 ENSE00002391992_008 ENSE00002391992 008 15 65222979 65223148 + 41 99 30 C A 65223028 1427 50 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAAAACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930829 64930830 64930830 exon 9 0.09090909 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAAAACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 201 125 1 0.8950192 0.9475096 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 -0.09816902 0.9972807 0.919353 NA 0.02815659 NA FALSE NA 1 1.719 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 1 probably_damaging(0.933) NA ACA C,A 8.237e-06 15:64930830 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 5.254253 0.91883 0.64351 0.713056 0.9971233 0 1.161072e-15 FALSE 4.12957e-06 ENSE00002391992_009 ENSE00002391992 009 15 65222979 65223148 + 41 99 30 A G 65223029 1428 51 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACGCTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930830 64930831 64930831 exon 10 0.1010101 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACGCTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 111 16 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 1 6.069 rs183862467 missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 rs183862467 1 probably_damaging(0.999) G:0.0012 G:0 G:0 NA G:0.006 G:0 G:0 CAC A,G 0.000453 15:64930831 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 4.351862 0.93716 0.80203 0.713056 0.9960487 0 1.161072e-15 FALSE 0.000412586 ENSE00002391992_010 ENSE00002391992 010 15 65222979 65223148 + 41 99 30 A G 65223039 1429 61 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCGTCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930840 64930841 64930841 exon 20 0.2020202 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCGTCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 131 95 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 1 6.069 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 1 probably_damaging(1) NA CAT A,G 2.471e-05 15:64930841 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 4.90643 0.93794 0.80255 0.713056 0.9908736 0 1.161072e-15 FALSE 1.23382e-05 ENSE00002391992_011 ENSE00002391992 011 15 65222979 65223148 + 41 99 30 G A 65223044 1430 66 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGACTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930845 64930846 64930846 exon 25 0.2525253 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGACTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 312 156 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 1 6.407 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 1 probably_damaging(1) NA GGC G,A 8.237e-06 15:64930846 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 6.076156 0.94051 0.80347 0.675385 0.9991817 0 1.161072e-15 FALSE 4.10948e-06 ENSE00002391992_012 ENSE00002391992 012 15 65222979 65223148 + 41 99 30 C T 65223053 1431 75 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTTGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930854 64930855 64930855 exon 34 0.3434343 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTTGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 239 1304 0.9895783 0.9972086 0.9933934 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1440605 0.004020408 0.9972807 0.919353 NA 0.07404046 NA FALSE NA 0.298 1.473 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 COSM4056248&COSM4056249 1 benign(0.019) NA TCG C,T 2.471e-05 15:64930855 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 6.604881 0.23972 0.11337 0.675385 0.9986612 0 1.161072e-15 FALSE 1.23097e-05 ENSE00002391992_018 ENSE00002391992 018 15 65222979 65223148 + 41 99 30 A G 65223060 1437 82 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCGTATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930861 64930862 64930862 exon 41 0.4141414 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCGTATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 2127 202 0.951348 0.988859 0.9701035 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1058302 -0.004329221 0.9972807 0.919353 NA 0.05075051 NA FALSE NA 1 6.069 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 1 probably_damaging(1) NA CAT A,G 8.236e-06 15:64930862 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 4.553692 0.92698 0.80185 0.675385 0.9960018 0 1.161072e-15 FALSE 2.04888e-05 ENSE00002391992_019 ENSE00002391992 019 15 65222979 65223148 + 41 99 30 A G 65223062 1438 84 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATGTGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930863 64930864 64930864 exon 43 0.4343434 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATGTGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 145 321 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 0 -2.23 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 1 benign(0.002) NA TAT A,G 8.236e-06 15:64930864 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant -2.260953 0.15568 0.01633 0.675385 0.6068797 0 1.161072e-15 FALSE 8.19343e-06 ENSE00002391992_020 ENSE00002391992 020 15 65222979 65223148 + 41 99 30 T C 65223067 1439 89 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCCGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930868 64930869 64930869 exon 48 0.4848485 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCCGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 1781 1023 0.9990621 0.9984221 0.9987421 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1535443 0.005233903 0.9972807 0.919353 NA 0.07938909 NA FALSE NA 0.001 -0.672 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 7/15 1 NA CTG T,C 1.647e-05 15:64930869 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 synonymous_variant 0.261835 0.38307 0.04733 0.675385 0.6647663 0 1.161072e-15 FALSE 1.22909e-05 ENSE00002391992_022 ENSE00002391992 022 15 65222979 65223148 + 41 99 30 G A 65223078 1441 100 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCAACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930879 64930880 64930880 exon -41 0.5959596 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCAACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 155 1163 1 0.9994418 0.9997209 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.006253583 0.9972807 0.919353 NA 0.0803679 NA FALSE NA 0.986 1.152 rs140781481 missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 rs140781481 1 benign(0.053) A:0.0002 A:0.0008 A:0 NA A:0 A:0 A:0 A:0.0011 A:0 CGA G,A 0.0001483 15:64930880 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 1.810973 0.23417 0.26115 0.713056 0.9498171 0 1.161072e-15 FALSE 9.84091e-05 ENSE00002391992_023 ENSE00002391992 023 15 65222979 65223148 + 41 99 30 C A 65223091 1442 113 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATAGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930892 64930893 64930893 exon -28 0.7272727 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATAGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 468 403 0.9934646 0.9905995 0.9920321 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1479469 -0.002588674 0.9972807 0.919353 NA 0.07267909 NA FALSE NA 0.007 -0.639 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 7/15 rs374408787&COSM963980 1 NA A:0 A:0.0001 TCG C,A 8.237e-06 15:64930893 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 synonymous_variant 2.954219 0.296 0.07002 0.713056 0.8503699 0 1.161072e-15 FALSE 2.05492e-05 ENSE00002391992_024 ENSE00002391992 024 15 65222979 65223148 + 41 99 30 C T 65223095 1443 117 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGTTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930896 64930897 64930897 exon -24 0.7676768 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGTTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 564 574 0.9914677 0.9703535 0.9809106 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1459499 -0.02283472 0.9972807 0.919353 NA 0.06155761 NA FALSE NA 1 0.983 . synonymous_variant LOW ANKDD1A HGNC 28002 ENST00000395720 7/15 1 NA GCT C,T 0.0001483 15:64930897 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 synonymous_variant 1.869321 0.90727 0.48849 0.713056 0.8857798 0 1.161072e-15 FALSE 0.000123393 ENSE00002391992_025 ENSE00002391992 025 15 65222979 65223148 + 41 99 30 G A 65223107 1444 129 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGAAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930908 64930909 64930909 exon -12 0.8888889 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGAAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 15 470 1 0.9982813 0.9991406 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.005093073 0.9972807 0.919353 NA 0.07978764 NA FALSE NA 1 6.407 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 1 possibly_damaging(0.759) NA GGA G,A 8.237e-06 15:64930909 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 6.48229 0.92428 0.78638 0.713056 0.9984998 0 1.161072e-15 FALSE 4.12439e-06 ENSE00002391992_026 ENSE00002391992 026 15 65222979 65223148 + 41 99 30 A T 65223108 1445 130 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGTGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930909 64930910 64930910 exon -11 0.8989899 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGTGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 1023 556 0.9970671 0.9984798 0.9977734 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1515493 0.005291613 0.9972807 0.919353 NA 0.07842044 NA FALSE NA 0.995 4.392 . missense_variant MODERATE ANKDD1A HGNC 28002 ENST00000395720 7/15 1 possibly_damaging(0.786) NA GAG A,T 8.238e-06 15:64930910 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 5.724524 0.78532 0.61529 0.713056 0.9869672 0 1.161072e-15 FALSE 4.12725e-06 ENSE00002394108_004 ENSE00002394108 004 9 112629721 112629890 + 50 81 39 C G 112629756 1431 36 GTCTAATAATGGAATAGGTTCCTGGGATCAGCTGCTTACCTTGGAATGCTGCAGCAGAAGTATCTGCTCGTCAAGCTGTTGTCGCTTGCCTTCTATTTCAGTCTGCCTCTTTCTTTTTTCCTTGAAAATAAAGACACAGAGGCTGTAAGAGTGGGTGGGTGTTGGCTCCA 109867440 109867610 109867475 109867476 109867476 upstr_intron -15 -0.28 TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTGTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC mutant NA NA NA NA NA 52 125 1 1 1 0.9946519 0.9883815 0.9967911 0.9932601 NA NA 0.003208916 0.006739904 0.9915167 0.9950256 NA 0.00497441 NA FALSE NA 1 1.146 . intron_variant MODIFIER PALM2-AKAP2 HGNC 33529 ENST00000374530 1/10 1 NA TCT C,G 8.236e-06 9:109867476 PALM2-AKAP2 HGNC Symbol protein_coding 392203 ENSG00000157654 ENSE00003481429 non_coding_transcript_exon_variant 1.189324 0.96056 0.80948 0.053691 0.7171685 0.357644 0.06651795 FALSE 8.29848e-06 ENSE00002394108_006 ENSE00002394108 006 9 112629721 112629890 + 50 81 39 A G 112629773 1433 53 GTCTAATAATGGAATAGGTTCCTGGGATCAGCTGCTTACCTTGGAATGCTGCAGCAGAAGTATCTGCTCGTCAAGCTGTTGTCGCTTGCCTTCTATTTCAGTCTGCCTCTTTCTTTTCTCCTTGAAAATAAAGAGACAGAGGCTGTAAGAGTGGGTGGGTGTTGGCTCCA 109867440 109867610 109867492 109867493 109867493 exon 3 0.03703704 TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAGAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC mutant NA NA NA NA NA 351 658 0.95 1 0.975 0.9946519 0.9883815 0.9967911 0.9932601 NA NA -0.04679108 0.006739904 0.9915167 0.9950256 NA -0.02002559 NA FALSE NA 1 2.6 . splice_region_variant&synonymous_variant LOW PALM2-AKAP2 HGNC 33529 ENST00000374530 2/11 1 NA AAA A,G 8.236e-06 9:109867493 PALM2-AKAP2 HGNC Symbol protein_coding 392203 ENSG00000157654 ENSE00003481429 splice_region_variant 1.438371 0.95333 0.52979 0.554377 0.7797924 0 0.06651795 FALSE NA ENSE00002394108_009 ENSE00002394108 009 9 112629721 112629890 + 50 81 39 G A 112629822 1436 102 GTCTAATAATGGAATAGGTTCCTGGGATCAGCTGCTTACCTTGGAATGCTGCAGCAGAAGTATCTGCTTGTCAAGCTGTTGTCGCTTGCCTTCTATTTCAGTCTGCCTCTTTCTTTTTTCCTTGAAAATAAAGAGACAGAGGCTGTAAGAGTGGGTGGGTGTTGGCTCCA 109867440 109867610 109867541 109867542 109867542 exon -30 0.6419753 TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACAAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC mutant NA NA NA NA NA 168 378 1 1 1 0.9946519 0.9883815 0.9967911 0.9932601 NA NA 0.003208916 0.006739904 0.9915167 0.9950256 NA 0.00497441 NA FALSE NA 1 4.679 rs140452489 missense_variant MODERATE PALM2-AKAP2 HGNC 33529 ENST00000374530 2/11 rs140452489&COSM218970&COSM218971 1 deleterious_low_confidence(0.01) probably_damaging(0.956) A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 A:0.0007 A:0 CGA G,A 4.942e-05 9:109867542 PALM2-AKAP2 HGNC Symbol protein_coding 392203 ENSG00000157654 ENSE00003481429 missense_variant 6.894885 0.98029 0.91283 0.615465 0.9988309 0 0.06651795 FALSE 6.59321e-05 ENSE00002394108_016 ENSE00002394108 016 9 112629721 112629890 + 50 81 39 A G 112629858 1443 138 GTCTAATAATGGAATAGGTTCCTGGGATCAGCCGCTTACCTTGGAATGCTGCAGCAGAAGTATCTGCTCGTCAAGCTGTTGTCGCTTGCCTTCTATTTCAGTCTGCCTCTTTCTTTTTTCCTTGAAAATAAAGAGACAGAGGCTGTAAGAGTGGGTGGGTGTTGGCTCCA 109867440 109867610 109867577 109867578 109867578 downstr_intron 7 1.184211 TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCGGCTGATCCCAGGAACCTATTCCATTATTAGAC TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC mutant NA NA NA NA NA 152 16 1 1 1 0.9946519 0.9883815 0.9967911 0.9932601 NA NA 0.003208916 0.006739904 0.9915167 0.9950256 NA 0.00497441 NA FALSE NA 0.164 0.679 rs2769154 splice_region_variant&intron_variant LOW PALM2-AKAP2 HGNC 33529 ENST00000374530 2/10 rs2769154 1 A:0.0946 G:0.9735 G:0.8948 NA G:0.9593 G:0.7773 G:0.8967 G:0.9489 G:0.7964 CAG G,G 0.849 9:109867578 PALM2-AKAP2 HGNC Symbol protein_coding 392203 ENSG00000157654 ENSE00003481429 splice_region_variant 1.29468 0.36416 0.00342 0.06567 0.8894463 0.357374 0.06651795 FALSE 0.850763 ENSE00002394108_022 ENSE00002394108 022 9 112629721 112629890 + 50 81 39 C T 112629880 1449 160 GTCTAATAATAGAATAGGTTCCTGGGATCAGCTGCTTACCTTGGAATGCTGCAGCAGAAGTATCTGCTCGTCAAGCTGTTGTCGCTTGCCTTCTATTTCAGTCTGCCTCTTTCTTTTTTCCTTGAAAATAAAGAGACAGAGGCTGTAAGAGTGGGTGGGTGTTGGCTCCA 109867440 109867610 109867599 109867600 109867600 downstr_intron 29 1.763158 TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCTATTATTAGAC TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC mutant NA NA NA NA NA 540 2557 0.9950104 0.9999851 0.9974978 0.9946519 0.9883815 0.9967911 0.9932601 NA NA -0.001780689 0.00672502 0.9915167 0.9950256 NA 0.002472166 NA FALSE NA 0.001 0.093 . intron_variant MODIFIER PALM2-AKAP2 HGNC 33529 ENST00000374530 2/10 1 NA CCA C,T 1.648e-05 9:109867600 PALM2-AKAP2 HGNC Symbol protein_coding 392203 ENSG00000157654 ENSE00003481429 intron_variant 1.326408 0.16252 0.03187 0.06567 0.7975139 0.162712 0.06651795 FALSE 1.74599e-05 ENSE00002394124_001 ENSE00002394124 001 7 99811304 99811473 + 54 72 44 G A 99811326 2094 23 GAAGTGACAGGAGTGTGTAAAGACCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213702 100213703 100213703 upstr_intron -32 -0.5740741 GAAGTGACAGGAGTGTGTAAAGACCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 199 570 0.961317 0.9158106 0.9385638 0.8844412 0.8637844 0.8113479 0.8188873 NA NA 0.1499691 0.09692331 0.8741128 0.8151176 NA 0.1234462 NA FALSE NA 0 -1.04 . upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 1 NA GGC G,A 8.236e-06 7:100213703 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 intron_variant 0.851105 0.16905 0.00406 0 0.7613079 0.0546461 NA NA 4.06494e-06 ENSE00002394124_005 ENSE00002394124 005 7 99811304 99811473 + 54 72 44 A T 99811371 2098 68 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTTCTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213747 100213748 100213748 exon 14 0.1944444 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTTCTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 390 29 0.2344311 0.09024711 0.1623391 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.5769169 -0.7286402 0.8741128 0.8151176 NA -0.6527785 NA TRUE NA 0 0.472 . upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 1 NA TAC A,T 8.236e-06 7:100213748 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 missense_variant 0.063473 0.30177 0.01936 0.75658 0.8456814 0 NA NA 4.06108e-06 ENSE00002394124_009 ENSE00002394124 009 7 99811304 99811473 + 54 72 44 C T 99811388 2102 85 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGTGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213764 100213765 100213765 exon 31 0.4305556 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGTGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 536 50 0.882704 0.8 0.841352 0.8844412 0.8637844 0.8113479 0.8188873 NA NA 0.07135611 -0.01888732 0.8741128 0.8151176 NA 0.02623439 NA FALSE NA 0.232 0.61 rs146553177 upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 rs146553177 1 T:0.0002 T:0 T:0 NA T:0 T:0.001 T:0 T:0 T:0.0003 GCG C,T 0.000313 7:100213765 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 missense_variant 2.928312 0.33225 0.03167 0.75658 0.9932851 0 NA NA 0.00034112 ENSE00002394124_014 ENSE00002394124 014 7 99811304 99811473 + 54 72 44 C G 99811394 2107 91 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGGTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213770 100213771 100213771 exon -36 0.5138889 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGGTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 254 1090 0.06424482 0.2197969 0.1420209 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.7471031 -0.5990904 0.8741128 0.8151176 NA -0.6730968 NA TRUE NA 0.989 1.814 . upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 1 NA GCT C,G 8.236e-06 7:100213771 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 missense_variant 2.724715 0.87569 0.39951 0.75658 0.9936193 0 NA NA 4.06088e-06 ENSE00002394124_015 ENSE00002394124 015 7 99811304 99811473 + 54 72 44 A G 99811416 2108 113 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGGGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213792 100213793 100213793 exon -14 0.8194444 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGGGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 934 1500 0.002136866 0.09153257 0.04683472 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.8092111 -0.7273548 0.8741128 0.8151176 NA -0.7682829 NA TRUE NA 1 3.769 . upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 1 NA GAG A,G 8.236e-06 7:100213793 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 missense_variant 6.609608 0.93992 0.56518 0.75658 0.9988207 0 NA NA 4.06101e-06 ENSE00002394124_019 ENSE00002394124 019 7 99811304 99811473 + 54 72 44 G C 99811434 2112 131 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGACTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213810 100213811 100213811 downstr_intron 5 1.116279 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGACTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 996 1585 0.00920322 0.01196154 0.01058238 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.8021447 -0.8069258 0.8741128 0.8151176 NA -0.8045352 NA TRUE NA 0.968 3.981 . upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 1 NA AGT G,C 8.236e-06 7:100213811 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 splice_region_variant 0.64707 0.39436 0.30592 0.092769 0.7052023 0.948475 NA NA 4.06144e-06 ENSE00002394124_021 ENSE00002394124 021 7 99811304 99811473 + 54 72 44 C T 99811438 2114 135 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTTCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213814 100213815 100213815 downstr_intron 9 1.209302 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTTCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 331 351 0.6093051 0.8090708 0.709188 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.2020428 -0.009816541 0.8741128 0.8151176 NA -0.1059297 NA FALSE NA 0 -0.076 . upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 1 NA TCC C,T 8.236e-06 7:100213815 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 intron_variant 0.912088 0.18943 0.0136 0.092769 0.7861802 0.132266 NA NA 4.06164e-06 ENSE00002394124_022 ENSE00002394124 022 7 99811304 99811473 + 54 72 44 C A 99811440 2115 137 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCACAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213816 100213817 100213817 downstr_intron 11 1.255814 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCACAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 596 113 0.7964281 0.8607816 0.8286048 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.01491981 0.04189424 0.8741128 0.8151176 NA 0.01348722 NA FALSE NA 0 0.414 . upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 1 NA CCC C,A 2.471e-05 7:100213817 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 intron_variant 0.94574 0.21366 0.02103 0.092769 0.820383 0.132266 NA NA 1.21845e-05 ENSE00002394124_023 ENSE00002394124 023 7 99811304 99811473 + 54 72 44 C T 99811441 2116 138 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCTAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213817 100213818 100213818 downstr_intron 12 1.27907 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCTAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 383 16 0.6061022 0.8 0.7030511 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.2052457 -0.01888732 0.8741128 0.8151176 NA -0.1120665 NA FALSE NA 0 0.5 . upstream_gene_variant MODIFIER GATS Clone_based_vega_gene 29954 ENST00000414997 rs528398614 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 CCA C,T 8.236e-06 7:100213818 CASTOR3 HGNC Symbol protein_coding 71565 ENSG00000239521 ENSE00003550551 intron_variant 0.855503 0.2285 0.01578 0.092769 0.7720663 0.132266 NA NA 4.06157e-06 ENSE00002404026_001 ENSE00002404026 001 6 90326237 90326406 + 41 99 30 G C 90326249 1977 13 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAGGTCTGCTAAACGTCATCTGCTCAT 89616517 89616687 89616529 89616530 89616530 upstr_intron -29 -0.6829268 ATGAGCAGATGACGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 53 187 1 1 1 0.85 0.85 0.7429613 0.8537264 NA NA 0.2570387 0.1462736 0.85 0.7983438 NA 0.2016562 NA FALSE NA 0 -0.238 rs190272729 downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 rs190272729 1 C:0.0010 C:0 C:0 NA C:0.003 C:0 C:0.002 AGG G,C 0.0001406 6:89616530 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 non_coding_transcript_exon_variant 1.358137 0.22787 0.07172 0.078448 0.7425696 0.205303 3.487691e-07 FALSE 0.000166618 ENSE00002404026_005 ENSE00002404026 005 6 90326237 90326406 + 41 99 30 C G 90326260 1981 24 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAGCTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616540 89616541 89616541 upstr_intron -18 -0.4146341 ATGAGCAGATGAGGTTTAGCAGAGCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 141 719 0.8 0.8086541 0.8043271 0.85 0.85 0.7429613 0.8537264 NA NA 0.05703868 -0.04507225 0.85 0.7983438 NA 0.005983216 NA FALSE NA 0.002 -0.014 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 1 NA ACC C,G 8.271e-06 6:89616541 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 non_coding_transcript_exon_variant 1.893724 0.63811 0.13168 0.078448 0.7956615 0.344295 3.487691e-07 FALSE 4.06263e-06 ENSE00002404026_006 ENSE00002404026 006 6 90326237 90326406 + 41 99 30 C T 90326261 1982 25 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAAGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616541 89616542 89616542 upstr_intron -17 -0.3902439 ATGAGCAGATGAGGTTTAGCAGACTTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 22 81 1 1 1 0.85 0.85 0.7429613 0.8537264 NA NA 0.2570387 0.1462736 0.85 0.7983438 NA 0.2016562 NA FALSE NA 0.686 0.077 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 1 NA CCT C,T 1.654e-05 6:89616542 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 non_coding_transcript_exon_variant 2.217539 0.93043 0.19799 0.078448 0.7371712 0.39054 3.487691e-07 FALSE 8.12519e-06 ENSE00002404026_007 ENSE00002404026 007 6 90326237 90326406 + 41 99 30 T G 90326262 1983 26 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGACGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616542 89616543 89616543 upstr_intron -16 -0.3658537 ATGAGCAGATGAGGTTTAGCAGACCGTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 430 272 0.8 0.9385526 0.8692763 0.85 0.85 0.7429613 0.8537264 NA NA 0.05703868 0.08482621 0.85 0.7983438 NA 0.07093245 NA FALSE NA 0.997 3.308 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 1 NA CTT T,G 1.654e-05 6:89616543 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 non_coding_transcript_exon_variant 2.505006 0.98837 0.95026 0.078448 0.8781898 0.957984 3.487691e-07 FALSE 8.12414e-06 ENSE00002404026_010 ENSE00002404026 010 6 90326237 90326406 + 41 99 30 C T 90326275 1986 39 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTAGAATTGATTAGAAGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616555 89616556 89616556 upstr_intron -3 -0.04878049 ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCTAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 45 150 0.8 0.8 0.8 0.85 0.85 0.7429613 0.8537264 NA NA 0.05703868 -0.05372635 0.85 0.7983438 NA 0.001656166 NA FALSE NA 1 1.995 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 rs549056663 1 T:0.0008 T:0 T:0 NA T:0 T:0 T:0.0041 CCA C,T 9.098e-05 6:89616556 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 splice_region_variant 2.165697 0.97914 0.58946 0.162113 0.907346 0.976614 3.487691e-07 FALSE 6.09206e-05 ENSE00002404026_012 ENSE00002404026 012 6 90326237 90326406 + 41 99 30 C T 90326288 1988 52 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTATGTCTCCAGCCTGGAATTGATTAGAAGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616568 89616569 89616569 exon 11 0.1111111 ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACATAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 54 256 0.8438554 0.8352873 0.8395714 0.85 0.85 0.7429613 0.8537264 NA NA 0.1008941 -0.01843905 0.85 0.7983438 NA 0.04122754 NA FALSE NA 1 6.935 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 rs369158321 1 NA T:0 T:0.0001 ACA C,T 4.135e-05 6:89616569 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 missense_variant 6.991349 0.99382 0.97413 0.706298 0.9990146 0 3.487691e-07 FALSE 4.06114e-05 ENSE00002404026_018 ENSE00002404026 018 6 90326237 90326406 + 41 99 30 T G 90326316 1994 80 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGCTTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616596 89616597 89616597 exon 39 0.3939394 ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAAGCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 23 817 0.95 0.9596634 0.9548317 0.85 0.85 0.7429613 0.8537264 NA NA 0.2070387 0.1059371 0.85 0.7983438 NA 0.1564879 NA FALSE NA 1 1.777 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 1 NA ATC T,G 8.267e-06 6:89616597 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 missense_variant 5.480019 0.97514 0.89619 0.615465 0.9971404 0 3.487691e-07 FALSE 8.12209e-06 ENSE00002404026_019 ENSE00002404026 019 6 90326237 90326406 + 41 99 30 C T 90326330 1995 94 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGACCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616610 89616611 89616611 exon -47 0.5353535 ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGTCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 1085 37 0.7816771 0.8 0.7908386 0.85 0.85 0.7429613 0.8537264 NA NA 0.03871582 -0.05372635 0.85 0.7983438 NA -0.007505266 NA FALSE NA 0.99 2.18 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 1 NA GCC C,T 8.267e-06 6:89616611 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 missense_variant 1.277714 0.95704 0.23252 0.615465 0.7788149 0 3.487691e-07 FALSE 4.06101e-06 ENSE00002404026_020 ENSE00002404026 020 6 90326237 90326406 + 41 99 30 C G 90326337 1996 101 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAACATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616617 89616618 89616618 exon -40 0.6060606 ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATGTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 738 30 0.8026169 0.8 0.8013085 0.85 0.85 0.7429613 0.8537264 NA NA 0.05965561 -0.05372635 0.85 0.7983438 NA 0.002964628 NA FALSE NA 0.959 0.693 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 1 NA TCT C,G 8.267e-06 6:89616618 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 missense_variant 2.462186 0.97667 0.68626 0.638212 0.9948111 0 3.487691e-07 FALSE 8.12203e-06 ENSE00002404026_023 ENSE00002404026 023 6 90326237 90326406 + 41 99 30 G A 90326350 1999 114 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCTGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAACGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616630 89616631 89616631 exon -27 0.7373737 ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCAGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 182 416 0.1461539 0 0.07307695 0.85 0.85 0.7429613 0.8537264 NA NA -0.5968074 -0.8537264 0.85 0.7983438 NA -0.7252669 NA TRUE NA 1 8.765 . downstream_gene_variant MODIFIER ANKRD6 HGNC 17280 ENST00000520886 rs373352243 1 NA A:0 A:0.0001 CGG G,A 1.654e-05 6:89616631 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 missense_variant 6.717701 0.99413 0.98509 0.706298 0.9994141 0 3.487691e-07 FALSE 2.03054e-05 ENSE00002406591_007 ENSE00002406591 007 5 147015737 147015906 - 48 63 59 G A 147015772 1582 135 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTATGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636208 147636209 147636209 downstr_intron 13 1.276596 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCATAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 1084 383 0.9943617 0.9848622 0.989612 0.9805297 0.9331253 0.9885048 0.9125446 NA NA 0.005856933 0.07231755 0.9568275 0.9505247 NA 0.03908724 NA FALSE NA 0.167 0.381 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 12/20 1 NA TGT G,A 5.766e-05 5:147636209 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 intron_variant 1.163683 0.74595 0.1806 0.156188 0.5689989 0.336276 0.9999365 TRUE 4.06769e-05 ENSE00002406591_009 ENSE00002406591 009 5 147015737 147015906 - 48 63 59 C A 147015775 1584 132 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGACCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636211 147636212 147636212 downstr_intron 10 1.212766 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGTCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 244 24 0.9917559 1 0.9958779 0.9805297 0.9331253 0.9885048 0.9125446 NA NA 0.003251049 0.08745536 0.9568275 0.9505247 NA 0.0453532 NA FALSE NA 0.999 1.184 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 12/20 rs202122080 1 NA A:0.0002 A:0.0002 GCC C,A 9.884e-05 5:147636212 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 intron_variant 1.720873 0.94778 0.74366 0.156188 0.7263478 0.264264 0.9999365 TRUE 8.54263e-05 ENSE00002406591_013 ENSE00002406591 013 5 147015737 147015906 - 48 63 59 C A 147015784 1588 123 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATAACTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636220 147636221 147636221 downstr_intron 1 1.021277 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGTTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 215 76 0.02034991 0.006693132 0.01352152 0.9805297 0.9331253 0.9885048 0.9125446 NA NA -0.9681549 -0.9058515 0.9568275 0.9505247 NA -0.9370032 NA TRUE NA 1 7.036 . splice_donor_variant HIGH JAKMIP2 HGNC 29067 ENST00000265272 12/20 COSM229486 1 NA HC ACC C,A 1.647e-05 5:147636221 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 splice_donor_variant 5.586207 0.98043 0.97057 0.156188 0.9955432 0.984001 0.9999365 TRUE NA ENSE00002406591_014 ENSE00002406591 014 5 147015737 147015906 - 48 63 59 G T 147015796 1589 111 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAATCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636232 147636233 147636233 exon -12 0.8253968 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGATTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 70 387 0.95 0.9467811 0.9483906 0.9805297 0.9331253 0.9885048 0.9125446 NA NA -0.03850481 0.03423648 0.9568275 0.9505247 NA -0.002134161 NA FALSE NA 1 4.912 . missense_variant MODERATE JAKMIP2 HGNC 29067 ENST00000265272 12/21 rs540045552 1 deleterious(0) probably_damaging(0.953) T:0.0002 T:0 T:0 NA T:0 T:0 T:0.001 AGC G,T 8.237e-06 5:147636233 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 missense_variant 5.851923 0.97183 0.94597 0.706548 0.9957 0 0.9999365 TRUE 8.12632e-06 ENSE00002406591_016 ENSE00002406591 016 5 147015737 147015906 - 48 63 59 T C 147015814 1591 93 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAACGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636250 147636251 147636251 exon -30 0.5396825 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCGTTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 41 211 0.984701 1 0.9923505 0.9805297 0.9331253 0.9885048 0.9125446 NA NA -0.003803791 0.08745536 0.9568275 0.9505247 NA 0.04182578 NA FALSE NA 1 2.105 . missense_variant MODERATE JAKMIP2 HGNC 29067 ENST00000265272 12/21 1 tolerated(0.18) benign(0.01) NA ATG T,C 8.237e-06 5:147636251 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 missense_variant 1.064792 0.95324 0.86333 0.706548 0.9857774 0 0.9999365 TRUE NA ENSE00002406591_017 ENSE00002406591 017 5 147015737 147015906 - 48 63 59 T C 147015863 1592 44 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAACATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636299 147636300 147636300 upstr_intron -16 -0.2542373 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATGTTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 302 37 1 1 1 0.9805297 0.9331253 0.9885048 0.9125446 NA NA 0.01149519 0.08745536 0.9568275 0.9505247 NA 0.04947528 NA FALSE NA 0.998 1.438 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 11/20 1 NA ATA T,C 8.237e-06 5:147636300 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 non_coding_transcript_exon_variant 1.694358 0.94571 0.78333 0.295142 0.8201059 0.790992 0.9999365 TRUE 8.14943e-06 ENSE00002406591_022 ENSE00002406591 022 5 147015737 147015906 - 48 63 59 G A 147015869 1597 38 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCACAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636305 147636306 147636306 upstr_intron -22 -0.3559322 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGTGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 211 206 1 0.991229 0.9956145 0.9805297 0.9331253 0.9885048 0.9125446 NA NA 0.01149519 0.07868434 0.9568275 0.9505247 NA 0.04508977 NA FALSE NA 0.88 1.126 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 11/20 rs372624212 1 NA A:0 A:0.0001 CGC G,A 8.237e-06 5:147636306 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 non_coding_transcript_exon_variant 1.938999 0.93382 0.57104 0.295142 0.7965407 0.975075 0.9999365 TRUE NA ENSE00002406591_026 ENSE00002406591 026 5 147015737 147015906 - 48 63 59 A G 147015883 1601 24 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCGGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636319 147636320 147636320 upstr_intron -36 -0.5932203 ACACAGGCTCTTTCGTGCCACTCCGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 1376 838 0.9287571 0.9956343 0.9621957 0.9805297 0.9331253 0.9885048 0.9125446 NA NA -0.05974768 0.08308969 0.9568275 0.9505247 NA 0.01167101 NA FALSE NA 1 3.41 . intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 11/20 1 NA CAG A,G 8.238e-06 5:147636320 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 non_coding_transcript_exon_variant 1.945276 0.95103 0.8811 0.295142 0.8135653 0.820403 0.9999365 TRUE NA ENSE00002406591_028 ENSE00002406591 028 5 147015737 147015906 - 48 63 59 C T 147015892 1603 15 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCATGAAAGAGCCTGTGT 147636173 147636343 147636328 147636329 147636329 upstr_intron -45 -0.7457627 ACACAGGCTCTTTCATGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 20 64 0.9530051 0.9510214 0.9520133 0.9805297 0.9331253 0.9885048 0.9125446 NA NA -0.03549968 0.03847678 0.9568275 0.9505247 NA 0.00148855 NA FALSE NA 0.14 -0.901 rs6580491 intron_variant MODIFIER JAKMIP2 HGNC 29067 ENST00000265272 11/20 rs6580491 1 T:0.0555 T:0.2005 T:0.0144 NA T:0 T:0.003 T:0 T:0.1518 T:0.0008 ACG C,T 0.014 5:147636329 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 non_coding_transcript_exon_variant 1.025417 0.25928 0.0682 0.295142 0.7129318 0.189119 0.9999365 TRUE 0.0113502 ENSE00002407789_004 ENSE00002407789 004 1 177899650 177899819 - 30 99 41 G A 177899669 4361 151 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCTCTCAGGGGGAGGGGCTGGC 177930514 177930684 177930533 177930534 177930534 downstr_intron 11 1.37931 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCTCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant 94 56 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8776032 0.853679 0.75657 1.110223e-16 -0.02760318 NA NA 0.8638016 0.8051245 -0.01380159 NA NA NA FALSE 0 -0.589 . intron_variant&non_coding_transcript_variant MODIFIER SEC16B HGNC 30301 ENST00000327037 13/13 1 NA GGG G,A 8.278e-06 1:177930534 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 intron_variant 0.61827 0.21289 0.01789 0.053691 0.6408995 0.046323 4.436224e-13 FALSE 4.08811e-06 ENSE00002407789_008 ENSE00002407789 008 1 177899650 177899819 - 30 99 41 C A 177899689 4365 131 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCATGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC 177930514 177930684 177930553 177930554 177930554 exon -10 0.9090909 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCATGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant 96 271 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8776032 0.853679 0.75657 1.110223e-16 -0.02760318 NA NA 0.8638016 0.8051245 -0.01380159 NA NA NA FALSE 1 3.585 rs183770097 non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEC16B HGNC 30301 ENST00000327037 13/14 rs183770097 1 A:0.0002 A:0 A:0 NA A:0 A:0.001 A:0 A:0.0003 A:0.001 CCT C,A 0.0005628 1:177930554 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 missense_variant 7.193337 0.98332 0.88584 0.554377 0.9970223 0 4.436224e-13 FALSE 0.000687584 ENSE00002407789_009 ENSE00002407789 009 1 177899650 177899819 - 30 99 41 G A 177899693 4366 127 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATTTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC 177930514 177930684 177930557 177930558 177930558 exon -14 0.8686869 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATTTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant 81 13 0 0 0 NA NA NA NA NA 0.85 0.8776032 0.853679 0.75657 -0.85 -0.8776032 NA NA 0.8638016 0.8051245 -0.8638016 NA NA NA TRUE 1 4.534 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEC16B HGNC 30301 ENST00000327037 13/14 1 NA AGA G,A 8.276e-06 1:177930558 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 missense_variant 7.158089 0.98301 0.89995 0.554377 0.9984005 0 4.436224e-13 FALSE 4.06732e-06 ENSE00002407789_014 ENSE00002407789 014 1 177899650 177899819 - 30 99 41 G A 177899730 4371 90 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCATCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC 177930514 177930684 177930594 177930595 177930595 exon 49 0.4949495 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCATCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant 107 164 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8776032 0.853679 0.75657 1.110223e-16 -0.02760318 NA NA 0.8638016 0.8051245 -0.01380159 NA NA NA FALSE 0.778 0.956 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEC16B HGNC 30301 ENST00000327037 13/14 1 NA GGT G,A 1.655e-05 1:177930595 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 missense_variant 2.720931 0.49779 0.23992 0.615465 0.9718237 0 4.436224e-13 FALSE 8.13167e-06 ENSE00002407789_017 ENSE00002407789 017 1 177899650 177899819 - 30 99 41 G A 177899771 4374 49 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTTCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC 177930514 177930684 177930635 177930636 177930636 exon 8 0.08080808 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTTCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant NA NA NA NA NA 436 137 0.7951223 0.8 0.7975612 0.85 0.8776032 0.853679 0.75657 NA NA -0.05855669 0.04343002 0.8638016 0.8051245 NA -0.007563333 NA FALSE NA 0.996 4.534 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER SEC16B HGNC 30301 ENST00000327037 13/14 rs542193198&COSM228822 1 A:0.0006 A:0 A:0 NA A:0.003 A:0 A:0 GGA G,A 1.655e-05 1:177930636 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 missense_variant 5.476685 0.98135 0.89691 0.615465 0.9974763 0 4.436224e-13 FALSE NA ENSE00002407789_018 ENSE00002407789 018 1 177899650 177899819 - 30 99 41 T C 177899782 4375 38 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCGCAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC 177930514 177930684 177930646 177930647 177930647 upstr_intron -4 -0.07317073 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCGCAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant 118 23 0 0 0 NA NA NA NA NA 0.85 0.8776032 0.853679 0.75657 -0.85 -0.8776032 NA NA 0.8638016 0.8051245 -0.8638016 NA NA NA TRUE 0.053 -0.123 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW SEC16B HGNC 30301 ENST00000327037 12/13 rs376374383 1 NA C:0 C:0.0001 GTG T,C 8.275e-06 1:177930647 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 splice_region_variant -0.488462 0.16187 0.02164 0.053691 0.5833966 0.10325 4.436224e-13 FALSE 4.0935e-06 ENSE00002407789_020 ENSE00002407789 020 1 177899650 177899819 - 30 99 41 G A 177899797 4377 23 AGGCAGGCACTGATGGGATTTTTCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC 177930514 177930684 177930661 177930662 177930662 upstr_intron -19 -0.4390244 AGGCAGGCACTGATGGGATTTTTCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant NA NA NA NA NA 47 22 0.9658598 0.95 0.9579299 0.85 0.8776032 0.853679 0.75657 NA NA 0.1121808 0.19343 0.8638016 0.8051245 NA 0.1528054 NA FALSE NA 0.027 1.387 . intron_variant&non_coding_transcript_variant MODIFIER SEC16B HGNC 30301 ENST00000327037 12/13 1 NA GGA G,A 8.275e-06 1:177930662 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 intron_variant -0.070037 0.1895 0.0318 0.053691 0.2729492 0.046875 4.436224e-13 FALSE 4.16674e-06 ENSE00002414607_003 ENSE00002414607 003 17 15546003 15546172 - 32 96 42 G A 15546071 773 102 ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCACTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCTATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA 15642688 15642858 15642756 15642757 15642757 exon -37 0.625 ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCACTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCTATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCACTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCCATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA mutant NA NA NA NA NA 458 104 0.9989167 0.9984762 0.9986965 NA NA 1 0.9968625 NA NA -0.001083273 0.001613758 NA 0.9984312 NA 0.0002652424 NA FALSE NA 1 1.17 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TRIM16 HGNC 17241 ENST00000581224 7/8 rs374201891 1 A:0.0014 A:0.0045 A:0.0014 NA A:0 A:0 A:0 A:0.0007 A:0 TGG G,A 0.0001556 17:15642757 TRIM16 HGNC Symbol protein_coding 56351 ENSG00000221926 ENSE00003609122 synonymous_variant 1.237429 0.97105 0.63281 0.706298 0.9135755 0 0.0001147787 FALSE 0.000246571 ENSE00002414607_007 ENSE00002414607 007 17 15546003 15546172 - 32 96 42 T C 15546138 777 35 ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCGCTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCCATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA 15642688 15642858 15642823 15642824 15642824 upstr_intron -8 -0.1666667 ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCGCTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCCATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA ATTGGGCTCCTTCCTCCTTAATTCTCTGCTTTCCACTTTTAGGCTGAACTCCAGTGCACCCAGTTAGACTTGGAGCGGAAACTCAAGTTGAATGAAAATGCCATCTCCAGGCTCCAGGCTAACCAAAAGTCTGTTCTGGTAAGACCAGCCTGGGTCAGCCAGGCCTGTGA mutant NA NA NA NA NA 104 14 1 1 1 NA NA 1 0.9968625 NA NA 0 0.003137512 NA 0.9984312 NA 0.001568756 NA FALSE NA 0 0.265 . splice_region_variant&intron_variant&non_coding_transcript_variant LOW TRIM16 HGNC 17241 ENST00000581224 6/7 1 NA GTG T,C 3.128e-05 17:15642824 TRIM16 HGNC Symbol protein_coding 56351 ENSG00000221926 ENSE00003609122 splice_region_variant -0.799966 0.1016 0.00995 0.078448 0.322514 0.0832352 0.0001147787 FALSE 2.3713e-05 ENSE00002415750_002 ENSE00002415750 002 2 63821581 63821750 + 41 99 30 A T 63821601 1306 21 CAGTAGTACTTAAAGATGTTTATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT 63594446 63594616 63594466 63594467 63594467 upstr_intron -21 -0.4878049 CAGTAGTACTTAAAGATGTTTATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT mutant NA NA NA NA NA 429 637 0.9577134 0.9773455 0.9675294 0.8456235 0.8626647 0.8850562 0.7964168 NA NA 0.07265728 0.1809287 0.8541441 0.8407365 NA 0.126793 NA FALSE NA 0.012 0.198 . downstream_gene_variant MODIFIER MDH1 HGNC 6970 ENST00000462944 1 NA TAA A,T 1.647e-05 2:63594467 MDH1 HGNC Symbol protein_coding 18588 ENSG00000014641 ENSE00003573337 intron_variant 1.679506 0.97039 0.36131 0.322412 0.9037989 0.403572 0.9826346 TRUE 8.14074e-06 ENSE00002415750_008 ENSE00002415750 008 2 63821581 63821750 + 41 99 30 T C 63821672 1312 92 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATACTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT 63594446 63594616 63594537 63594538 63594538 exon -49 0.5151515 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATACTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT mutant NA NA NA NA NA 898 576 0.9994488 0.9979251 0.998687 0.8456235 0.8626647 0.8850562 0.7964168 NA NA 0.1143926 0.2015084 0.8541441 0.8407365 NA 0.1579505 NA FALSE NA 0.951 0.25 . downstream_gene_variant MODIFIER MDH1 HGNC 6970 ENST00000462944 1 NA ATT T,C 8.237e-06 2:63594538 MDH1 HGNC Symbol protein_coding 18588 ENSG00000014641 ENSE00003573337 synonymous_variant -0.138149 0.96736 0.66742 0.732398 0.892909 0 0.9826346 TRUE 4.06454e-06 ENSE00002415750_009 ENSE00002415750 009 2 63821581 63821750 + 41 99 30 T C 63821680 1313 100 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCCGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT 63594446 63594616 63594545 63594546 63594546 exon -41 0.5959596 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCCGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT mutant NA NA NA NA NA 512 500 0.9999196 0.9964997 0.9982096 0.8456235 0.8626647 0.8850562 0.7964168 NA NA 0.1148634 0.2000829 0.8541441 0.8407365 NA 0.1574732 NA FALSE NA 1 7.929 . downstream_gene_variant MODIFIER MDH1 HGNC 6970 ENST00000462944 1 NA CTG T,C 8.236e-06 2:63594546 MDH1 HGNC Symbol protein_coding 18588 ENSG00000014641 ENSE00003573337 missense_variant 6.343334 0.99059 0.98392 0.732398 0.9991255 0 0.9826346 TRUE NA ENSE00002415750_010 ENSE00002415750 010 2 63821581 63821750 + 41 99 30 A C 63821719 1314 139 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCCGGTAGGAACAGGTGTCTATAAATCTTAAGTT 63594446 63594616 63594584 63594585 63594585 exon -2 0.989899 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCCGGTAGGAACAGGTGTCTATAAATCTTAAGTT CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT mutant NA NA NA NA NA 80 573 0.009705748 0.001679093 0.00569242 0.8456235 0.8626647 0.8850562 0.7964168 NA NA -0.8753504 -0.7947377 0.8541441 0.8407365 NA -0.835044 NA TRUE NA 1 9.207 . downstream_gene_variant MODIFIER MDH1 HGNC 6970 ENST00000462944 1 NA CAG A,C 8.236e-06 2:63594585 MDH1 HGNC Symbol protein_coding 18588 ENSG00000014641 ENSE00003573337 missense_variant 5.567718 0.99103 0.99119 0.732398 0.9953509 0 0.9826346 TRUE 4.0832e-06 ENSE00002415815_002 ENSE00002415815 002 2 152361959 152362128 - 33 93 44 G A 152361977 2867 152 CACACAAATGGAAGCTGAAAGTATGGCCACTACCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGATTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505462 151505463 151505463 downstr_intron 15 1.46875 CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTTTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 144 212 0.9901705 0.9992533 0.9947119 0.991721 0.989145 0.9889384 0.9351085 NA NA 0.001232095 0.06414478 0.990433 0.9620234 NA 0.03268844 NA FALSE NA 0 0.191 . intron_variant MODIFIER NEB HGNC 7720 ENST00000421461 3/12 1 NA AGA G,A 8.266e-06 2:151505463 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 intron_variant 0.387534 0.24019 0.06655 0.078448 0.6533214 0.0476449 4.081031e-17 FALSE 4.07043e-06 ENSE00002415815_003 ENSE00002415815 003 2 152361959 152362128 - 33 93 44 A G 152361981 2868 148 CACACAAATGGAAGCTGAGAGTGTGGCCACTACCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGATTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505466 151505467 151505467 downstr_intron 11 1.34375 CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCACACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 115 70 1 0.9977339 0.998867 0.991721 0.989145 0.9889384 0.9351085 NA NA 0.01106161 0.06262543 0.990433 0.9620234 NA 0.03684352 NA FALSE NA 0 0.484 . intron_variant MODIFIER NEB HGNC 7720 ENST00000421461 3/12 rs374368246 1 NA G:0.0002 G:0 TAT A,G 8.266e-06 2:151505467 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 intron_variant 0.474491 0.23854 0.0834 0.078448 0.6816481 0.0476449 4.081031e-17 FALSE 1.2205e-05 ENSE00002415815_006 ENSE00002415815 006 2 152361959 152362128 - 33 93 44 A G 152361990 2871 139 CACACAAATGGAAGCTGAGAGTATGGCCACTGCCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGATTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505475 151505476 151505476 downstr_intron 2 1.0625 CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGCAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 40 126 0.8064764 0.9621269 0.8843017 0.991721 0.989145 0.9889384 0.9351085 NA NA -0.182462 0.02701843 0.990433 0.9620234 NA -0.07772177 NA FALSE NA 1 6.295 . splice_donor_variant HIGH NEB HGNC 7720 ENST00000421461 3/12 rs545937015 1 NA HC TAC A,G 1.653e-05 2:151505476 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 splice_donor_variant 5.382466 0.95461 0.96659 0.078448 0.9879324 0.968533 4.081031e-17 FALSE 2.84534e-05 ENSE00002415815_011 ENSE00002415815 011 2 152361959 152362128 - 33 93 44 C T 152362010 2876 119 CACACAAATGGAAGCTGAGAGTATGGCCACTACCGAGCTAATGTGCTTCTGTGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGATTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505495 151505496 151505496 exon -19 0.8064516 CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACACAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 341 10 1 0.9748455 0.9874227 0.991721 0.989145 0.9889384 0.9351085 NA NA 0.01106161 0.03973697 0.990433 0.9620234 NA 0.02539929 NA FALSE NA 0 -2.582 . synonymous_variant LOW NEB HGNC 7720 ENST00000421461 3/13 1 NA GCG C,T 8.267e-06 2:151505496 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 synonymous_variant 2.640553 0.1305 0.02764 0.553676 0.8111308 0 4.081031e-17 FALSE 8.12797e-06 ENSE00002415815_014 ENSE00002415815 014 2 152361959 152362128 - 33 93 44 T C 152362031 2879 98 CACACAAATGGAAGCTGAGAGTATGGCCACTACCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACCTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGATTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505516 151505517 151505517 exon -40 0.5806452 CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAGGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 68 94 1 1 1 0.991721 0.989145 0.9889384 0.9351085 NA NA 0.01106161 0.06489151 0.990433 0.9620234 NA 0.03797656 NA FALSE NA 1 3.236 . synonymous_variant LOW NEB HGNC 7720 ENST00000421461 3/13 1 NA CTT T,C 9.095e-05 2:151505517 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 synonymous_variant 0.862527 0.97816 0.84891 0.553676 0.7994329 0 4.081031e-17 FALSE 9.34412e-05 ENSE00002415815_018 ENSE00002415815 018 2 152361959 152362128 - 33 93 44 C G 152362082 2883 47 CACACAAATGGAAGCTGAGAGTATGGCCACTACCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTGACCTGCAGATTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505567 151505568 151505568 exon 3 0.03225806 CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTCAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 238 259 0.8664118 1 0.9332059 0.991721 0.989145 0.9889384 0.9351085 NA NA -0.1225266 0.06489151 0.990433 0.9620234 NA -0.02881753 NA FALSE NA 0.992 -0.023 . splice_region_variant&synonymous_variant LOW NEB HGNC 7720 ENST00000421461 3/13 1 NA TCA C,G 8.277e-06 2:151505568 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 splice_region_variant 0.902936 0.96978 0.71174 0.638212 0.8474181 0 4.081031e-17 FALSE 8.12684e-06 ENSE00002415815_021 ENSE00002415815 021 2 152361959 152362128 - 33 93 44 A T 152362091 2886 38 CACACAAATGGAAGCTGAGAGTATGGCCACTACCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGTTTTAAAAATGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505576 151505577 151505577 upstr_intron -7 -0.1363636 CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAAACTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 100 207 0.9953704 0.9975736 0.996472 0.991721 0.989145 0.9889384 0.9351085 NA NA 0.006432013 0.06246508 0.990433 0.9620234 NA 0.03444855 NA FALSE NA 0 0.959 . splice_region_variant&intron_variant LOW NEB HGNC 7720 ENST00000421461 2/12 1 NA GAT A,T 2.483e-05 2:151505577 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 splice_region_variant -0.597048 0.28822 0.09514 0.074636 0.6493645 0.209331 4.081031e-17 FALSE 2.03191e-05 ENSE00002415815_022 ENSE00002415815 022 2 152361959 152362128 - 33 93 44 T G 152362100 2887 29 CACACAAATGGAAGCTGAGAGTATGGCCACTACCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGATTTAAAAAGGGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505585 151505586 151505586 upstr_intron -16 -0.3409091 CAGCATGTAATAATACCTTTCTTTTCCCCTTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 467 126 1 1 1 0.991721 0.989145 0.9889384 0.9351085 NA NA 0.01106161 0.06489151 0.990433 0.9620234 NA 0.03797656 NA FALSE NA 0 0.101 . intron_variant MODIFIER NEB HGNC 7720 ENST00000421461 2/12 rs550039083 1 G:0.0002 G:0 G:0 NA G:0.001 G:0 G:0 ATG T,G 8.278e-06 2:151505586 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 intron_variant 0.157207 0.23511 0.09547 0.074636 0.475619 0.174983 4.081031e-17 FALSE 4.06421e-06 ENSE00002415815_023 ENSE00002415815 023 2 152361959 152362128 - 33 93 44 G A 152362101 2888 28 CACACAAATGGAAGCTGAGAGTATGGCCACTACCGAGCTAATGTGCTTCTGCGTCTCCTTCACACGTTTCACTTCAGGCAGGTCAGGGATTGGAGTTCCTTGTCCTATTGCTTCCTTATACTTCACCTGCAGATTTAAAAATAGGAAAAGAAAGGTATTATTACATGCTG 151505444 151505614 151505586 151505587 151505587 upstr_intron -17 -0.3636364 CAGCATGTAATAATACCTTTCTTTTCCTATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG CAGCATGTAATAATACCTTTCTTTTCCCATTTTTAAATCTGCAGGTGAAGTATAAGGAAGCAATAGGACAAGGAACTCCAATCCCTGACCTGCCTGAAGTGAAACGTGTGAAGGAGACGCAGAAGCACATTAGCTCGGTAGTGGCCATACTCTCAGCTTCCATTTGTGTG mutant NA NA NA NA NA 311 131 0.9940335 0.9987908 0.9964121 0.991721 0.989145 0.9889384 0.9351085 NA NA 0.005095082 0.06368232 0.990433 0.9620234 NA 0.0343887 NA FALSE NA 0 -0.311 . intron_variant MODIFIER NEB HGNC 7720 ENST00000421461 2/12 1 NA TGG G,A 8.278e-06 2:151505587 NEB HGNC Symbol protein_coding 249151 ENSG00000183091 ENSE00003560617 intron_variant 0.287534 0.24156 0.02993 0.074636 0.2853031 0.170002 4.081031e-17 FALSE 4.06445e-06 ENSE00002417027_001 ENSE00002417027 001 10 99426758 99426927 + 60 60 50 G A 99426773 2270 16 AAAATGGGTTCCTGTAAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667015 97667016 97667016 upstr_intron -45 -0.7333333 AAAATGGGTTCCTGTAAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 351 177 1 1 1 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.01546047 0.004551698 0.9785494 0.9899939 NA 0.01000608 NA FALSE NA 0.006 1.564 . intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 8/9 1 NA TGA G,A 8.236e-06 10:97667016 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant 1.375015 0.27859 0.25954 0.156188 0.6849986 0.742869 NA NA 4.16667e-06 ENSE00002417027_003 ENSE00002417027 003 10 99426758 99426927 + 60 60 50 C T 99426797 2272 40 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTTCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667039 97667040 97667040 upstr_intron -21 -0.3333333 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTTCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 493 1851 0.9986567 0.9935685 0.9961126 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.01411715 -0.001879797 0.9785494 0.9899939 NA 0.006118679 NA FALSE NA 0.004 0.306 . intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 8/9 1 NA TCC C,T 8.236e-06 10:97667040 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant 0.725394 0.29442 0.13687 0.156188 0.7026671 0.160745 NA NA 4.06782e-06 ENSE00002417027_004 ENSE00002417027 004 10 99426758 99426927 + 60 60 50 C T 99426806 2273 49 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTTTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667048 97667049 97667049 upstr_intron -12 -0.1833333 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTTTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 176 36 1 0.9171289 0.9585645 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.01546047 -0.07831938 0.9785494 0.9899939 NA -0.03142946 NA FALSE NA 0.003 -0.39 . intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 8/9 rs566581799 1 T:0.0002 T:0 T:0.0014 NA T:0 T:0 T:0 TCT C,T 8.236e-06 10:97667049 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant 1.467706 0.23411 0.08575 0.156188 0.7708035 0.388147 NA NA 8.12962e-06 ENSE00002417027_005 ENSE00002417027 005 10 99426758 99426927 + 60 60 50 T C 99426807 2274 50 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCCTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667049 97667050 97667050 upstr_intron -11 -0.1666667 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCCTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant 23 22 0.9566641 0.9965798 0.976622 113 777 0.9775597 0.9990144 0.9882871 0.9728916 0.9842072 0.9845395 0.9954483 -0.01622746 0.01237262 -0.006979786 0.003566058 0.9785494 0.9899939 -0.00192742 -0.001706864 0.0002205564 FALSE FALSE 0.558 1.284 . intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 8/9 1 NA CTT T,C 1.647e-05 10:97667050 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant 1.319276 0.34926 0.25531 0.156188 0.8159733 0.398617 NA NA 8.12935e-06 ENSE00002417027_006 ENSE00002417027 006 10 99426758 99426927 + 60 60 50 A G 99426820 2275 63 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAGGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667062 97667063 97667063 exon 3 0.05 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAGGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 222 262 0.9895396 0.9917501 0.9906448 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.005000021 -0.003698199 0.9785494 0.9899939 NA 0.0006509108 NA FALSE NA 1 4.826 . splice_region_variant&synonymous_variant LOW PI4K2A Uniprot_gn 30031 ENST00000370649 9/10 1 NA AAG A,G 8.236e-06 10:97667063 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 splice_region_variant 1.600562 0.94828 0.95753 0.706548 0.9407456 0 NA NA 8.12407e-06 ENSE00002417027_007 ENSE00002417027 007 10 99426758 99426927 + 60 60 50 C T 99426832 2276 75 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTTGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667074 97667075 97667075 exon 15 0.25 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTTGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 306 229 1 1 1 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.01546047 0.004551698 0.9785494 0.9899939 NA 0.01000608 NA FALSE NA 0.221 -0.48 . synonymous_variant LOW PI4K2A Uniprot_gn 30031 ENST00000370649 9/10 rs368596585 1 NA T:0.0002 T:0 TCG C,T 4.118e-05 10:97667075 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 synonymous_variant 2.274016 0.80374 0.08045 0.706548 0.7287647 0 NA NA 5.28013e-05 ENSE00002417027_008 ENSE00002417027 008 10 99426758 99426927 + 60 60 50 G T 99426837 2277 80 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACATGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667079 97667080 97667080 exon 20 0.3333333 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACATGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 895 270 0.9970764 1 0.9985382 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.01253683 0.004551698 0.9785494 0.9899939 NA 0.008544264 NA FALSE NA 1 6.716 . missense_variant MODERATE PI4K2A Uniprot_gn 30031 ENST00000370649 9/10 1 deleterious(0.02) possibly_damaging(0.771) NA AGG G,T 8.236e-06 10:97667080 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 missense_variant 6.84609 0.96904 0.98038 0.706548 0.9216613 0 NA NA 4.06197e-06 ENSE00002417027_009 ENSE00002417027 009 10 99426758 99426927 + 60 60 50 G C 99426844 2278 87 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCACTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667086 97667087 97667087 exon 27 0.45 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCACTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant 21 17 1 0.9989244 0.9994622 397 323 0.9998963 0.9938923 0.9968943 0.9728916 0.9842072 0.9845395 0.9954483 0.0271084 0.01471724 0.01535676 -0.001555982 0.9785494 0.9899939 0.02091282 0.006900391 0.01401243 FALSE FALSE 1 4.741 . missense_variant MODERATE PI4K2A Uniprot_gn 30031 ENST00000370649 9/10 1 tolerated(0.07) benign(0.106) NA AGT G,C 8.236e-06 10:97667087 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 missense_variant 2.498013 0.94226 0.93752 0.706548 0.9896415 0 NA NA 4.06134e-06 ENSE00002417027_010 ENSE00002417027 010 10 99426758 99426927 + 60 60 50 T C 99426858 2279 101 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGACTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667100 97667101 97667101 exon -20 0.6833333 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGACTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 391 219 1 1 1 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.01546047 0.004551698 0.9785494 0.9899939 NA 0.01000608 NA FALSE NA 1 6.16 . missense_variant MODERATE PI4K2A Uniprot_gn 30031 ENST00000370649 9/10 1 deleterious(0) benign(0.388) NA ATT T,C 1.647e-05 10:97667101 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 missense_variant 4.527632 0.95144 0.9618 0.706548 0.9706566 0 NA NA 8.12282e-06 ENSE00002417027_014 ENSE00002417027 014 10 99426758 99426927 + 60 60 50 C T 99426896 2283 139 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTTCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667138 97667139 97667139 downstr_intron 19 1.387755 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTTCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 2080 289 0.9528881 0.9994524 0.9761702 0.9728916 0.9842072 0.9845395 0.9954483 NA NA -0.0316514 0.004004064 0.9785494 0.9899939 NA -0.01382367 NA FALSE NA 0 -0.371 . intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 9/9 rs368876637 1 NA T:0.0002 T:0 TCC C,T 2.471e-05 10:97667139 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant 0.307947 0.32071 0.07937 0.093477 0.4994849 0.159017 NA NA 1.22101e-05 ENSE00002417027_015 ENSE00002417027 015 10 99426758 99426927 + 60 60 50 T C 99426901 2284 144 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGCATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667143 97667144 97667144 downstr_intron 24 1.489796 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGCATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 59 37 0.9435836 1 0.9717918 0.9728916 0.9842072 0.9845395 0.9954483 NA NA -0.04095592 0.004551698 0.9785494 0.9899939 NA -0.01820211 NA FALSE NA 0 -0.156 . intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 9/9 1 NA GTA T,C 8.236e-06 10:97667144 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant 0.305985 0.20105 0.08483 0.093477 0.325876 0.125619 NA NA 8.14637e-06 ENSE00002417027_016 ENSE00002417027 016 10 99426758 99426927 + 60 60 50 C T 99426910 2285 153 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGTGTCTCTGGGAGTGTTGT 97667000 97667170 97667152 97667153 97667153 downstr_intron 33 1.673469 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGTGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 96 530 0.9979664 0.9997015 0.9988339 0.9728916 0.9842072 0.9845395 0.9954483 NA NA 0.01342687 0.004253181 0.9785494 0.9899939 NA 0.008840023 NA FALSE NA 0 -0.884 rs79179769 intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 9/9 rs79179769 1 T:0.0092 T:0.0303 T:0.0058 NA T:0 T:0.002 T:0 T:0.0275 T:0.001 GCG C,T 0.003624 10:97667153 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant -0.222743 0.159 0.03494 0.093477 0.7228588 0.125619 NA NA 0.00337979 ENSE00002417027_017 ENSE00002417027 017 10 99426758 99426927 + 60 60 50 G A 99426911 2286 154 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCATCTCTGGGAGTGTTGT 97667000 97667170 97667153 97667154 97667154 downstr_intron 34 1.693878 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCATCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 262 857 0.9797051 0.9960406 0.9878728 0.9728916 0.9842072 0.9845395 0.9954483 NA NA -0.004834444 0.000592292 0.9785494 0.9899939 NA -0.002121076 NA FALSE NA 0 -1.691 . intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 9/9 1 NA CGT G,A 9.884e-05 10:97667154 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant -0.170524 0.14256 0.00899 0.093477 0.7069863 0.125619 NA NA 0.00012752 ENSE00002417027_018 ENSE00002417027 018 10 99426758 99426927 + 60 60 50 C T 99426915 2287 158 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTTTGGGAGTGTTGT 97667000 97667170 97667157 97667158 97667158 downstr_intron 38 1.77551 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTTTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant 55 25 0.9818436 0.9995617 0.9907027 211 635 1 0.9997509 0.9998754 0.9728916 0.9842072 0.9845395 0.9954483 0.008952033 0.01535447 0.01546047 0.004302558 0.9785494 0.9899939 0.01215325 0.009881514 0.00227174 FALSE FALSE 0.003 0.082 . intron_variant MODIFIER PI4K2A Uniprot_gn 30031 ENST00000370649 9/9 1 NA TCT C,T 8.236e-06 10:97667158 AL355315.1 Clone-based (Ensembl) gene protein_coding 89536 ENSG00000249967 ENSE00003641306 intron_variant 0.884996 0.27843 0.14265 0.093477 0.7056774 0.125619 NA NA 4.12259e-06 ENSE00002426612_001 ENSE00002426612 001 X 38540410 38540579 + 48 84 38 C T 38540433 337 24 TGGCCTGAGTGAAAACATGTCTCTAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT 38681155 38681325 38681178 38681179 38681179 upstr_intron -25 -0.5 TGGCCTGAGTGAAAACATGTCTCTAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT mutant NA NA NA NA NA 637 810 0.9999354 0.9981944 0.9990649 0.9673256 0.9724731 0.9899651 0.9899346 NA NA 0.009970241 0.008259748 0.9698994 0.9899499 NA 0.009114994 NA FALSE NA 0 -0.487 . intron_variant&non_coding_transcript_variant MODIFIER TSPAN7 HGNC 11854 ENST00000419600 4/6 1 NA CCA C,T 2.471e-05 X:38681179 TSPAN7 HGNC Symbol protein_coding 127550 ENSG00000156298 ENSE00003499086 intron_variant 0.456923 0.15415 0.00564 0 0.7379176 0.0702388 0.8699501 FALSE 2.81326e-05 ENSE00002426612_004 ENSE00002426612 004 X 38540410 38540579 + 48 84 38 A G 38540479 340 70 TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTGGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT 38681155 38681325 38681224 38681225 38681225 exon 22 0.2619048 TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTGGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT mutant NA NA NA NA NA 513 231 0.9964986 1 0.9982493 0.9673256 0.9724731 0.9899651 0.9899346 NA NA 0.006533442 0.01006536 0.9698994 0.9899499 NA 0.008299399 NA FALSE NA 1 5.157 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN7 HGNC 11854 ENST00000419600 5/7 1 NA TAG A,G 8.237e-06 X:38681225 TSPAN7 HGNC Symbol protein_coding 127550 ENSG00000156298 ENSE00003499086 missense_variant 2.512043 0.9859 0.94002 0 0.995454 0 0.8699501 FALSE NA ENSE00002426612_005 ENSE00002426612 005 X 38540410 38540579 + 48 84 38 G A 38540509 341 100 TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCACTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT 38681155 38681325 38681254 38681255 38681255 exon -33 0.6190476 TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCACTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT mutant NA NA NA NA NA 473 142 0.8084834 0.8017778 0.8051306 0.9673256 0.9724731 0.9899651 0.9899346 NA NA -0.1814818 -0.1881568 0.9698994 0.9899499 NA -0.1848193 NA FALSE NA 1 9.177 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN7 HGNC 11854 ENST00000419600 5/7 1 NA CGC G,A 2.471e-05 X:38681255 TSPAN7 HGNC Symbol protein_coding 127550 ENSG00000156298 ENSE00003499086 missense_variant 7.39335 0.99399 0.98919 0 0.9992499 0 0.8699501 FALSE 1.12078e-05 ENSE00002426612_006 ENSE00002426612 006 X 38540410 38540579 + 48 84 38 C G 38540510 342 101 TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGGTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT 38681155 38681325 38681255 38681256 38681256 exon -32 0.6309524 TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGGTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT mutant NA NA NA NA NA 29 195 1 1 1 0.9673256 0.9724731 0.9899651 0.9899346 NA NA 0.01003486 0.01006536 0.9698994 0.9899499 NA 0.01005011 NA FALSE NA 1 7.254 . non_coding_transcript_exon_variant&non_coding_transcript_variant MODIFIER TSPAN7 HGNC 11854 ENST00000419600 5/7 1 NA GCT C,G 8.237e-06 X:38681256 TSPAN7 HGNC Symbol protein_coding 127550 ENSG00000156298 ENSE00003499086 missense_variant 3.954623 0.99415 0.98628 0 0.99613 0 0.8699501 FALSE 5.60321e-06 ENSE00002427972_021 ENSE00002427972 021 2 231405962 231406131 + 54 72 44 T C 231406116 5225 155 GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTACACTGGCATTTGTCAA 230541246 230541416 230541400 230541401 230541401 downstr_intron 29 1.674419 GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTACACTGGCATTTGTCAA GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTATACTGGCATTTGTCAA mutant NA NA NA NA NA 86 564 1 0.9999325 0.9999662 NA NA 0.9984063 0.9938409 NA NA 0.001593662 0.006091586 NA 0.9961236 NA 0.003842624 NA FALSE NA 0 0.078 . intron_variant&non_coding_transcript_variant MODIFIER AC010149.4 Clone_based_vega_gene NA ENST00000455357 6/6 1 NA ATA T,C 8.277e-06 2:230541401 AC010149.1 Clone-based (Ensembl) gene antisense 59412 ENSG00000235419 ENSE00003588497 intron_variant -0.065827 0.15455 0.02154 0.065574 0.3082014 0.0448725 NA NA 4.13959e-06 ENSE00002427972_022 ENSE00002427972 022 2 231405962 231406131 + 54 72 44 T C 231406119 5226 158 GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTATACCGGCATTTGTCAA 230541246 230541416 230541403 230541404 230541404 downstr_intron 32 1.744186 GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTATACCGGCATTTGTCAA GAGCTCTTTCTCTCTAAATTGCATTTAATTTGAAATGGCCTCCATCTTTTGCAGAAATGTGAATTCCTCCTCTTGAAGGTCTACTGTGATTCGAAAAGCTGCTTTTTCGCCTCAGAACCGTATTATGTAAGTAACAGCCAAACAAAAATGCTTATACTGGCATTTGTCAA mutant NA NA NA NA NA 491 342 0.8324618 1 0.9162309 NA NA 0.9984063 0.9938409 NA NA -0.1659445 0.006159091 NA 0.9961236 NA -0.07989271 NA FALSE NA 0 -0.052 . intron_variant&non_coding_transcript_variant MODIFIER AC010149.4 Clone_based_vega_gene NA ENST00000455357 6/6 rs370270507 1 NA C:0 C:0.0001 CTG T,C 0.0001573 2:230541404 AC010149.1 Clone-based (Ensembl) gene antisense 59412 ENSG00000235419 ENSE00003588497 intron_variant -0.051779 0.14744 0.05253 0.065574 0.2953064 0.0448725 NA NA 0.000128759 ENSE00000406871_007 ENSE00000406871 007 17 26912304 26912473 - 33 93 44 G T 26912377 1102 97 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTAATTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT 28585285 28585455 28585358 28585359 28585359 exon -41 0.5698925 TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTAATTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT mutant NA NA NA NA NA 640 3479 0.796673 0.7996117 0.7981424 0.853583 0.8374976 0.9352435 0.9177075 NA NA -0.1385705 -0.1180957 0.8455403 0.9264755 NA -0.1283331 NA FALSE NA 0.654 1.491 NA NA NA SPAG5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:28585359 SPAG5 HGNC Symbol protein_coding 21714 ENSG00000076382 ENSE00003709397 missense_variant 1.552533 0.2764 0.4359 0.706548 0.9741411 0 7.256685e-06 FALSE NA ENSE00000654866_013 ENSE00000654866 013 22 40760235 40760404 + 45 90 35 C G 40760289 1015 55 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAAGGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA 40364230 40364400 40364284 40364285 40364285 exon 10 0.1111111 CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAAGGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA CCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGA mutant NA NA NA NA NA 83 54 0.9313232 0.9970599 0.9641915 NA NA 0.957911 0.9719424 NA NA -0.0265878 0.0251175 NA 0.9649267 NA -0.0007351506 NA FALSE NA 1 4.864 NA NA NA ADSL NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:40364285 ADSL HGNC Symbol protein_coding 43963 ENSG00000239900 ENSE00000654866 missense_variant 7.429085 0.98708 0.9847 0.722319 0.9973466 0 0.0002125753 FALSE NA ENSE00000658029_008 ENSE00000658029 008 14 58730366 58730535 + 57 66 47 T C 58730408 473 43 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATACTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG 58263647 58263817 58263689 58263690 58263690 upstr_intron -15 -0.245614 TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATACTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG TTAATTACATATGATAGTGTACTAATTCAGTGATTATATATATTTTTTTCTAAATAGGGTTATTGGGGCTGTGCCATCGGCAAAGCCAGGCAAGCTGCAAAGACGGAAATAGAGAAGCTTCAGGTAATAATTAATGCTTGAATTTTTACTATGTCGTCATCCTAATGCAG mutant NA NA NA NA NA 247 42 0.9785456 1 0.9892728 0.9820857 0.8501617 0.9021259 0.9746952 NA NA 0.07641967 0.02530478 0.9161237 0.9384106 NA 0.05086223 NA FALSE NA 0.004 0.474 NA NA NA RP11-349A22.5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:58263690 PSMA3 HGNC Symbol protein_coding 27181 ENSG00000100567 ENSE00003574077 non_coding_transcript_exon_variant 0.595575 0.35184 0.56281 0.256867 0.7338949 0.621625 0.9902819 TRUE 8.2633e-06 ENSE00000658636_015 ENSE00000658636 015 14 68052238 68052407 + 47 87 36 G T 68052391 818 154 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTTCTCCCTGACCCCTCCT 67585520 67585690 67585673 67585674 67585674 downstr_intron 20 1.571429 AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTTCTCCCTGACCCCTCCT AATCTCTAACTATGGATATATCTGATGGGTTGTTTCTGTTTCCCCAGCCTGCCCAGCTGTCTTCCAAGGAGAACGCTCTGGTGTGGATTGCTGTGAATGAGGATGGCGTCAGCATCCTGGACCACAACACTATGGTATGAAAGGATGCAGGCTGCTCCCTGACCCCTCCT mutant NA NA NA NA NA 299 710 0.9948346 0.9969407 0.9958877 0.9734481 0.8121384 0.950405 0.9561468 NA NA 0.04442965 0.04079389 0.8927933 0.9532759 NA 0.04261177 NA FALSE NA 0 -0.329 NA NA NA PIGH NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:67585674 PLEKHH1 HGNC Symbol protein_coding 56311 ENSG00000054690 ENSE00003542998 intron_variant 0.120335 0.19549 0.04984 0.053691 0.621776 0.0518458 0.0006602846 FALSE 6.31648e-06 ENSE00000676004_020 ENSE00000676004 020 16 19721790 19721959 - 41 78 51 G A 19721879 1205 81 GAGCGTGCCACCTCCTCGCAGAGCCCTAGCCCCAAACTTACCGTCCACTTCCTGGTTTCAGAAGCTTCCGTTTTGCCTGACTCGCGATCAATCTCTTCTTGCAAGGCCTTTCGCCTCACCTGAGCAAGAAGGATGACAGAAGAGGGCCGTCAGACAGAGATCTTCTTTCA 19710467 19710637 19710556 19710557 19710557 exon 30 0.3846154 TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATTGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC TGAAAGAAGATCTCTGTCTGACGGCCCTCTTCTGTCATCCTTCTTGCTCAGGTGAGGCGAAAGGCCTTGCAAGAAGAGATCGATCGCGAGTCAGGCAAAACGGAAGCTTCTGAAACCAGGAAGTGGACGGTAAGTTTGGGGCTAGGGCTCTGCGAGGAGGTGGCACGCTC mutant NA NA NA NA NA 794 229 0.9962609 0.987866 0.9920634 0.9886455 0.9935204 0.970189 0.9994417 NA NA 0.02607185 -0.0115757 0.991083 0.9848154 NA 0.007248076 NA FALSE NA 0.247 -0.719 NA NA NA KNOP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:19710557 KNOP1 HGNC Symbol protein_coding 16301 ENSG00000103550 ENSE00000676004 synonymous_variant 1.238067 0.29223 0.06842 0.730579 0.9347806 0 3.166824e-05 FALSE 1.21849e-05 ENSE00000677429_004 ENSE00000677429 004 8 1846555 1846724 + 44 93 33 C T 1846581 4 27 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATCGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCAGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898414 1898415 1898415 upstr_intron -18 -0.3863636 ATGGCAGCCCTGCAGGGAGGTGACCCTGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 318 342 0.9973826 0.9863041 0.9918433 NA NA 0.9955912 1 NA NA 0.001791422 -0.01369595 NA 0.9977956 NA -0.005952262 NA FALSE NA 0 -1.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:1898415 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 intron_variant -0.961202 0.05561 0.00642 0.062308 0.3827154 0.0591355 1.108047e-13 FALSE NA ENSE00000677429_017 ENSE00000677429 017 8 1846555 1846724 + 44 93 33 G A 1846620 17 66 ACTAGCTTGAGGAGGTCTCCGTGAAGCACTTACCTGGAGCAGGAGGATGAACTGTGGGAACCTCTGGATGGGCTTCATCATCAGGCTGTAGAGCGTGGTTCGATTGGGGCTGGCCTCCTGTTCCTGCTGTGGGGGAAGGCACCGGGGTCACCTCCCTGCAGGGCTGCCAT 1898388 1898558 1898453 1898454 1898454 exon 22 0.2365591 ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCAATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT ATGGCAGCCCTGCAGGGAGGTGACCCCGGTGCCTTCCCCCACAGCAGGAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAGAGGTTCCCACAGTTCATCCTCCTGCTCCAGGTAAGTGCTTCACGGAGACCTCCTCAAGCTAGT mutant NA NA NA NA NA 553 619 0.9963097 0.9970265 0.9966681 NA NA 0.9955912 1 NA NA 0.0007185204 -0.002973466 NA 0.9977956 NA -0.001127473 NA FALSE NA 1 8.97 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:1898454 ARHGEF10 HGNC Symbol protein_coding 134665 ENSG00000104728 ENSE00003716727 missense_variant 5.723434 0.99227 0.98679 0.706548 0.998601 0 1.108047e-13 FALSE 6.49978e-05 ENSE00000683971_023 ENSE00000683971 023 16 53513012 53513181 + 54 72 44 A C 53513167 1673 156 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAACTAAAGCTTAAAGTC 53479099 53479269 53479254 53479255 53479255 downstr_intron 30 1.697674 CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAACTAAAGCTTAAAGTC CACTATTATGGTGGTAGTTGCCATGTCTCTCAGAGCACTCTTATTGTTTGCCAGGTCACAAAAGAAGATAAGTCCTTCCAGAACATTATGCGTTGTTATAGGACTCAGCCGCAGGCCCGGAGCCAGGTAACTACATTTTCTCTATGGGCTGAAAAATAAAGCTTAAAGTC mutant NA NA NA NA NA 961 339 0.8465643 0.9840703 0.9153173 0.9895624 0.9795867 0.9546032 0.9502963 NA NA -0.1080389 0.03377397 0.9845746 0.9524498 NA -0.03713246 NA FALSE NA 0 0.516 NA NA NA RBL2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:53479255 RBL2 HGNC Symbol protein_coding 57672 ENSG00000103479 ENSE00003482757 non_coding_transcript_exon_variant 0.375073 0.92657 0.14087 0.099367 0.647435 0.139581 0.957797 TRUE 1.64156e-05 ENSE00000686544_019 ENSE00000686544 019 19 16552668 16552837 - 35 90 45 C G 16552769 1473 69 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGCGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG 16441856 16442026 16441957 16441958 16441958 exon 24 0.2666667 TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGCGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG TGCATTTGCTGAAAAGTTATTTTGCCTCTTGGTCTCCCATTTCAGGTCGATCCGGCATACACAGGGAGGGTGGGGGCGAGTGAAGCTGCGCTTTTTCTAAAGAAGTCTGGCCTCTCGGACATTATCCTTGGGAAGGTATGTGAAGATGAATAGTGATTTCTCTTCTGTGG mutant 17 10 0.9978269 1 0.9989134 NA NA NA NA NA 0.999615 0.9969894 0.8855953 0.9168093 -0.001788119 0.003010647 NA NA 0.9983022 0.9012023 0.0006112638 NA NA NA FALSE 1 0.773 NA NA NA EPS15L1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16441958 EPS15L1 HGNC Symbol protein_coding 116846 ENSG00000127527 ENSE00003564260 missense_variant 4.231206 0.91199 0.75755 0.645754 0.9888882 0 0.9700025 TRUE 4.0662e-06 ENSE00000697469_004 ENSE00000697469 004 8 72942091 72942260 - 45 69 56 T C 72942127 1456 134 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCGGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA 72029855 72030025 72029891 72029892 72029892 downstr_intron 9 1.204545 TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCGGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA TGCATTTTTAGGTGGACCATTCAACTGTAGTGATTTAATTTTGTGTCATACTTCAGATTGGTTTGGCAGTTGGCGACATTGCTGAGGTCCAGAAACATGCATCATTGAAGAGGATAGCTATGCAGGTAAGTGCAGTGCCTCCCCACTTATTACAGTGTTATCTTCTGGTA mutant NA NA NA NA NA 3906 1508 0.995267 0.9990352 0.9971511 0.9967408 0.9926862 0.9103605 0.7375159 NA NA 0.08490643 0.2615194 0.9947135 0.8239382 NA 0.1732129 NA FALSE NA 0 0.404 NA NA NA RP11-383H13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:72029892 TRPA1 HGNC Symbol protein_coding 55700 ENSG00000104321 ENSE00000697469 intron_variant -0.270093 0.07175 0.00125 0.074636 0.6563058 0.0507998 9.965887e-23 FALSE 4.06901e-06 ENSE00000700625_014 ENSE00000700625 014 15 83215152 83215321 - 39 81 50 C T 83215225 2273 97 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAATTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546474 82546475 82546475 exon -35 0.5802469 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAATTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant 25 17 0.9772972 1 0.9886486 856 943 0.9967618 0.8833404 0.9400511 0.9978215 0.9965572 0.6032795 0.7342984 -0.02052437 0.003442822 0.3934823 0.149042 0.9971894 0.6687889 -0.008540772 0.2712622 0.2798029 FALSE FALSE 0.698 0.937 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:82546475 AC245033.1 Clone-based (Ensembl) gene protein_coding 36406 ENSG00000260836 ENSE00003651905 missense_variant 2.464343 0.98237 0.62607 0.638212 0.9717293 0 NA NA 3.24939e-05 ENSE00000700625_022 ENSE00000700625 022 15 83215152 83215321 - 39 81 50 C A 83215277 2281 45 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTTTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA 82546401 82546571 82546526 82546527 82546527 upstr_intron -6 -0.1 GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTTTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA GCCTCCTGGTAAGAAGAGCCACTTCATCATCTTATTTTGCCTTTGTGCAGGTTCAGATTGACCCCTACCTAGAAGATTCTCTGTGTCATATCTGCAGTTCTCAGCCTGGTCCTTTCTTCTGTCGAGATCAGGTGGGTCCGATGTCTATGAAGTCCCTGCCCTCTATTAAA mutant NA NA NA NA NA 608 130 1 0.998224 0.999112 0.9978215 0.9965572 0.6032795 0.7342984 NA NA 0.3967205 0.2639256 0.9971894 0.6687889 NA 0.3303231 NA FALSE NA 0 -2.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:82546527 AC245033.1 Clone-based (Ensembl) gene protein_coding 36406 ENSG00000260836 ENSE00003651905 splice_region_variant 1.518816 0.16337 0.01801 0.06567 0.8145489 0.375243 NA NA NA ENSE00000708419_006 ENSE00000708419 006 19 41893384 41893553 - 35 90 45 G A 41893429 2487 125 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTAAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCCAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387523 41387524 41387524 exon -11 0.8888889 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTTAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 281 86 0.8232589 0.8 0.8116294 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.149429 -0.1548954 0.8601923 0.9637916 NA -0.1521622 NA FALSE NA 1 6.324 NA NA NA EXOSC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:41387524 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 missense_variant 5.984286 0.93663 0.9401 0.732398 0.9936537 0 0.001192557 FALSE NA ENSE00000708419_016 ENSE00000708419 016 19 41893384 41893553 - 35 90 45 C T 41893479 2497 75 GGTTCTGGCTTTTCCCCTCATCCCCATGCTGGTACCTCAGTGTCTGAGTAGAGCCCCTTGGTGCTGGACATCAGCAGCTTCCGTTCCACGCTGTCTAGGGCAAAGGTCAGGACTGCCCGGGCCTCCTAGGGACAAGGGGTAGAAGGCGGTGGGGGACCTAGGACCTTCCC 41387478 41387648 41387573 41387574 41387574 exon 30 0.3333333 GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTAGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC GGGAAGGTCCTAGGTCCCCCACCGCCTTCTACCCCTTGTCCCTAGGAGGCCCGGGCAGTCCTGACCTTTGCCCTGGACAGCGTGGAACGGAAGCTGCTGATGTCCAGCACCAAGGGGCTCTACTCAGACACTGAGGTACCAGCATGGGGATGAGGGGAAAAGCCAGAACC mutant NA NA NA NA NA 48 15 0.8 0.8 0.8 0.860501 0.8598835 0.9726879 0.9548954 NA NA -0.1726879 -0.1548954 0.8601923 0.9637916 NA -0.1637916 NA FALSE NA 0.001 -2.625 NA NA NA EXOSC5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:41387574 EXOSC5 HGNC Symbol protein_coding 11105 ENSG00000077348 ENSE00000708419 synonymous_variant 0.630983 0.07117 0.02393 0.732398 0.8545621 0 0.001192557 FALSE 4.35388e-06 ENSE00000714213_004 ENSE00000714213 004 12 4747235 4747404 - 32 96 42 G A 4747298 218 107 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCTTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT 4638068 4638238 4638131 4638132 4638132 exon -32 0.6770833 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCTTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant 17 26 1 1 1 150 2068 1 0.9826576 0.9913288 0.9969872 0.9986947 0.9876019 0.9244181 0.003012799 0.001305331 0.01239811 0.05823949 0.9978409 0.95601 0.002159065 0.0353188 0.03315974 FALSE FALSE 0.999 4.852 NA NA NA AKAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:4638132 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 missense_variant 5.976426 0.98539 0.90969 0.554377 0.9985277 0 0.02633298 FALSE 2.03155e-05 ENSE00000714213_013 ENSE00000714213 013 12 4747235 4747404 - 32 96 42 A C 4747371 227 34 AACCTAGTGTTTATCAAGAGGTTGACCCTTACCATTTTCCAGTCCTGGGCTTGGTTGTCTCCAGGAGAATAGACATCAACTTTGCATACTCCATTTTGGCTTTGTAACCAGTCAACCTTTTCTGACATCTGGAAGCCGGGGAAAAAAATGAGAAAGGGTCATCACAAGGG 4638068 4638238 4638204 4638205 4638205 upstr_intron -9 -0.1904762 CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCGGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT CCCTTGTGATGACCCTTTCTCATTTTTTTCCCCTGCTTCCAGATGTCAGAAAAGGTTGACTGGTTACAAAGCCAAAATGGAGTATGCAAAGTTGATGTCTATTCTCCTGGAGACAACCAAGCCCAGGACTGGAAAATGGTAAGGGTCAACCTCTTGATAAACACTAGGTT mutant 27 24 0.9996889 1 0.9998445 1506 1535 0.9966363 0.8610813 0.9288588 0.9969872 0.9986947 0.9876019 0.9244181 0.002701699 0.001305331 0.009034394 -0.06333679 0.9978409 0.95601 0.002003515 -0.0271512 0.02915471 FALSE FALSE 0.003 1.031 NA NA NA AKAP3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:4638205 AKAP3 HGNC Symbol protein_coding 33539 ENSG00000111254 ENSE00003758822 intron_variant 0.003546 0.34656 0.2484 0.053691 0.6467025 0.137806 0.02633298 FALSE 4.31421e-06 ENSE00000716285_013 ENSE00000716285 013 12 7087729 7087898 - 36 87 47 A C 7087863 508 36 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTGCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC 6978566 6978736 6978700 6978701 6978701 upstr_intron -12 -0.2340426 GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTGCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC GCCTAGTCATGTGATATCCCTAATGCACTGTGCTTTCTTCCCTCAAGAACCACCCCTTCTGGTTCCGCTGCATGTACATGCTGATCTGGGGCAAGTTTGTGCTGTACAAATATGTCACCTGTTGGCTGGTCACAGTAAGTAGAAAAGTTGAAACAAGGTCCTATTTAGAC mutant 131 150 0 0 0 NA NA NA NA NA 0.8480258 0.784082 0.8403327 0.8886904 -0.8480258 -0.784082 NA NA 0.8160539 0.8645116 -0.8160539 NA NA NA TRUE 0 2.024 NA NA NA LPCAT3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:6978701 EMG1 HGNC Symbol protein_coding 26507 ENSG00000111684 ENSE00003491007 3_prime_UTR_variant -0.265679 0.43168 0.79293 0.283894 0.7200491 0.152291 0.0106039 FALSE 3.66318e-05 ENSE00000721401_009 ENSE00000721401 009 10 102733245 102733414 + 59 63 48 C G 102733321 2370 77 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCGCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA 100973487 100973657 100973563 100973564 100973564 exon 18 0.2857143 TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCGCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA TCCTATGAGTAATAGGTATTGGGGTCAGTGCATCAGCCTATTCCCTTTGCCTCCACTAGATCCACTGGGAAGCCTCCCCAGAGATGCAAAGCAAATGTCATCAAAAAGGGAAAAACAACCAGGTATGTGGTCTGCCCTGTCCCCAGCTCCTTTCCTCCCCTTCTTCCTCA mutant NA NA NA NA NA 215 177 1 1 1 0.85 0.85 0.9506682 0.9207448 NA NA 0.04933181 0.07925517 0.85 0.9357065 NA 0.06429349 NA FALSE NA 0 -0.33 NA NA NA SEMA4G NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:100973564 SEMA4G HGNC Symbol protein_coding 16353 ENSG00000095539 ENSE00003534396 synonymous_variant 1.680677 0.90151 0.51262 0.646311 0.7541002 0 0.0008022351 FALSE 0.000225364 ENSE00000780555_010 ENSE00000780555 010 3 176755844 176756013 - 42 75 53 T C 176755930 3641 84 AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAGCTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC 177038055 177038225 177038141 177038142 177038142 exon 31 0.4133333 AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAGCTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC AGTAGCTACCCAGTCTATACAATGAAAATGTGAATATTTACTATTATTTTTAGAATGAAGTAAATGCTATCAAATGGGACCCAACTGGCAATCTCTTGGCCTCCTGTTCTGACGACATGACTTTAAAGGTAATTTGCTTAGTAGGGAGAAATGGGTTGGCGGTGTCACAC mutant NA NA NA NA NA 19 17 1 1 1 0.8111983 0.8458037 0.9540813 0.9599876 NA NA 0.0459187 0.04001241 0.828501 0.9570344 NA 0.04296556 NA FALSE NA 1 4.953 NA NA NA TBL1XR1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:177038142 TBL1XR1 HGNC Symbol protein_coding 208660 ENSG00000177565 ENSE00000780555 missense_variant 2.427502 0.9877 0.97454 0.706548 0.9920907 0 0.998822 TRUE 8.13266e-06 ENSE00000808094_009 ENSE00000808094 009 14 74531495 74531664 - 30 99 41 C T 74531572 987 93 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCAGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT 74064791 74064961 74064868 74064869 74064869 exon -48 0.5252525 CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCAGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT CCTTTGTCCTTAGGATATGACACGGATTTGTTCTGTTTTAGGTGGGAGTGAATGTCCCCATTCCAGTGCCTTTGCCAATGTTCTCATTCACCGGCTCTCGATCCTCCTTCAGGGGAGACACCAATTTCTATGGCAAACAGGTAACTTTTGAGTTAAATTTTTTGTCTTTT mutant NA NA NA NA NA 392 97 0.9977314 0.9587333 0.9782323 0.9981625 0.9986598 0.9605694 0.9660487 NA NA 0.03716195 -0.007315376 0.9984111 0.963309 NA 0.01492329 NA FALSE NA 1 7.82 NA NA NA ALDH6A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:74064869 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003487593 missense_variant 6.852091 0.96737 0.9345 0.706298 0.9974331 0 1.622295e-05 FALSE 0.000130293 ENSE00000808103_011 ENSE00000808103 011 14 74541610 74541779 - 48 63 59 A G 74541672 1011 108 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCCTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT 74074906 74075076 74074968 74074969 74074969 exon -15 0.7777778 TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCCTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT TAAATTTTAAATAACTTTCTGCTCTCATTTATCAAAATAATCGTTCTTTTGCCTCACAGGTTTCTTCCAAGGTGAAATCCAGTCCCACCTGGTATTCAGCATCTTCCTTCTCTTCTTCAGTGGTGAGTTTATTTGGCATAGAGGTTGACTTCTGAGAAGGAATTCAGTAT mutant NA NA NA NA NA 28 658 1 0.9961498 0.9980749 0.996404 0.9981278 0.9685188 0.8588443 NA NA 0.03148123 0.1373055 0.9972659 0.9136815 NA 0.08439334 NA FALSE NA 0.924 3.307 NA NA NA ALDH6A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:74074969 ALDH6A1 HGNC Symbol protein_coding 27643 ENSG00000119711 ENSE00003513907 missense_variant 1.86759 0.97922 0.94801 0.706298 0.9096649 0 1.622295e-05 FALSE 3.2495e-05 ENSE00000808300_012 ENSE00000808300 012 14 75472527 75472696 + 42 96 32 A C 75472653 1117 127 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCACGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG 75005823 75005993 75005949 75005950 75005950 exon -12 0.8854167 CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCACGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG CTCACTCTTTCTCTTAGAATCAGCCTTTCCCTCCCATTGCAGGGTCATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCTGCCATTTTTGCCGTTATGTCAAGAGTCAACAAGGTGGGTATATCTGGAGTTATGTTGAATTCATG mutant NA NA NA NA NA 947 345 0.9458571 0.9406315 0.9432443 0.8468615 0.7844684 0.9348526 0.7672066 NA NA 0.01100447 0.1734249 0.8156649 0.8510296 NA 0.09221467 NA FALSE NA 0.997 2.545 NA NA NA EIF2B2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:75005950 EIF2B2 HGNC Symbol protein_coding 9455 ENSG00000119718 ENSE00000808300 synonymous_variant 0.475216 0.97826 0.84105 0.722319 0.890614 0 0.0004282559 FALSE 4.06111e-06 ENSE00000844578_004 ENSE00000844578 004 16 70796396 70796565 - 47 66 57 A G 70796415 2522 151 GCAGGGCAGCCGATGTTCCGTAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGT 70762492 70762662 70762511 70762512 70762512 downstr_intron 28 1.608696 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTACGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 230 565 0.9863985 0.9999326 0.9931655 0.999551 1 0.9965249 0.9955982 NA NA -0.01012641 0.004334422 0.9997755 0.9960615 NA -0.002895995 NA FALSE NA 0 -0.821 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:70762512 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.057005 0.07279 0.00682 0.295142 0.2117087 0.046875 0.6297002 FALSE 4.07654e-06 ENSE00000844578_009 ENSE00000844578 009 16 70796396 70796565 - 47 66 57 G A 70796425 2527 141 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCATCCGTACTTATGGAACATCGGCTGCCCTGC 70762492 70762662 70762521 70762522 70762522 downstr_intron 18 1.391304 ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCATCCGTACTTATGGAACATCGGCTGCCCTGC ACGTAGTCCCGGGGCGAAGGGAGCACTCACGGGCACCCCTGCTTCTCTGCCCTCCAGATGTTCCGGCACACGGACAGCCTCTTTCCCATCCTACTGCAGACGTTATCGGATGAATCGGATGAGGTAGGTCACCAACGCCACCCGTACTTATGGAACATCGGCTGCCCTGC mutant NA NA NA NA NA 400 770 0.9949019 0.999589 0.9972454 0.999551 1 0.9965249 0.9955982 NA NA -0.001623011 0.0039908 0.9997755 0.9960615 NA 0.001183895 NA FALSE NA 0.001 -0.414 NA NA NA VAC14 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:70762522 VAC14 HGNC Symbol protein_coding 113722 ENSG00000103043 ENSE00003614909 intron_variant 0.257234 0.19403 0.06048 0.295142 0.8410703 0.046323 0.6297002 FALSE 2.84847e-05 ENSE00000844709_015 ENSE00000844709 015 20 39743955 39744124 + 56 69 45 C G 39744096 1285 142 CTCTGGCTGGGACTCCCTTCAACATTGTCTGCTTCATCTACTCACATTGAGTCTATCAAAAAGATCATCCTCGGGCTGCTTGTTCTCCATAAATAGTTGTAGGTTCTTAAAAACCTAAAAGATATAAGTGAATCCTAATTATTACTCTTGAAAAAAATCCTAACTTTAGA 41115314 41115484 41115455 41115456 41115456 downstr_intron 17 1.386364 TCTAAAGTTAGGATTTTTTTCAAGAGTAATAATTAGGATTCACTTATATCTTTTAGGTTTTTAAGAACCTACAACTATTTATGGAGAACAAGCAGCCCGAGGATGATCTTTTTGATAGACTCAATGTGAGTAGATGAAGCAGACAATGTTGAAGGGAGTCCCAGCCAGAG TCTAAAGTTAGGATTTTTTTCAAGAGTAATAATTAGGATTCACTTATATCTTTTAGGTTTTTAAGAACCTACAACTATTTATGGAGAACAAGCAGCCCGAGGATGATCTTTTTGATAGACTCAATGTGAGTAGATGAAGCACACAATGTTGAAGGGAGTCCCAGCCAGAG mutant NA NA NA NA NA 147 726 0.5260786 0.6254835 0.5757811 NA NA 0.8 0.95 NA NA -0.2739214 -0.3245165 NA 0.875 NA -0.2992189 NA FALSE NA 0 0.03 NA NA NA TOP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:41115456 TOP1 HGNC Symbol protein_coding 95669 ENSG00000198900 ENSE00000844709 intron_variant -0.000337 0.27994 0.29006 0.099367 0.3562892 0.046875 0.9999994 TRUE 4.07226e-06 ENSE00000844983_004 ENSE00000844983 004 20 44006137 44006306 - 42 75 53 G A 44006172 1409 135 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGATGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT 45377496 45377666 45377531 45377532 45377532 downstr_intron 7 1.170732 CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGATGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT CACACCTGGCTGATTCCTCTGGGTTTATGTCTCTCTTATCCTCTGTCCCTCAGATGCAAGATGAGAAACTGCGGGACGAGACAGAGCAGCCTGTGAGCAAAGTAATTGAGCGGAACCGTCTGAGAACGGTGAGACGCCCTGTTTTGGCCCCAGCTTGGGGAAGCTCATAT mutant NA NA NA NA NA 109 315 1 1 1 0.9328376 0.7775485 0.943671 0.9414262 NA NA 0.056329 0.05857383 0.8551931 0.9425486 NA 0.05745141 NA FALSE NA 0.003 -0.33 NA NA NA TP53TG5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:45377532 TP53TG5 HGNC Symbol protein_coding 35326 ENSG00000124251 ENSE00003663784 splice_region_variant 0.082677 0.11548 0.00112 0.078448 0.8075413 0.11205 3.302444e-06 FALSE 1.62783e-05 ENSE00000846524_008 ENSE00000846524 008 2 70915126 70915295 - 30 99 41 C T 70915219 1514 77 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTAGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688086 70688087 70688087 exon 36 0.3636364 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTAGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 633 1441 0.9941377 1 0.9970688 NA NA 0.988631 0.973112 NA NA 0.005506685 0.02688801 NA 0.9808715 NA 0.01619735 NA FALSE NA 0.019 -0.432 NA NA NA ADD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:70688087 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 synonymous_variant 1.58543 0.34786 0.08901 0.706548 0.6679034 0 0.9991752 TRUE 8.12216e-06 ENSE00000846524_012 ENSE00000846524 012 2 70915126 70915295 - 30 99 41 T G 70915258 1518 38 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTCCAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA 70687993 70688163 70688125 70688126 70688126 upstr_intron -4 -0.07317073 AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTCCAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA AGAGGACTTAAGGTTTTAATTGACTATTTATTTCTCTACAGATCCTGGTGCTAAGAAACCATGGAGTGGTTGCTCTGGGTGACACGGTAGAGGAGGCATTTTACAAGATCTTCCACCTGCAGGCTGCATGTGAGATACAGGTGAGCAAATTCTCCTGGAAAGTGGGCCCA mutant NA NA NA NA NA 25 166 1 1 1 NA NA 0.988631 0.973112 NA NA 0.01136904 0.02688801 NA 0.9808715 NA 0.01912852 NA FALSE NA 0 -0.655 NA NA NA ADD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:70688126 ADD2 HGNC Symbol protein_coding 160607 ENSG00000075340 ENSE00000846524 splice_region_variant 0.861696 0.24522 0.0935 0.062308 0.7567667 0.104987 0.9991752 TRUE 0.000191044 ENSE00000865703_003 ENSE00000865703 003 16 3729676 3729845 - 44 72 54 G A 3729689 207 157 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCTTTCCCCTCAGGGT 3679674 3679844 3679687 3679688 3679688 downstr_intron 31 1.72093 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCTTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 138 193 1 0.9957486 0.9978743 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.07162273 0.9461025 0.9543796 NA 0.04349467 NA FALSE NA 0 -0.758 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:3679688 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 intron_variant 0.216535 0.16865 0.01247 0.295142 0.6808563 0.0511317 1.620376e-17 FALSE 8.14485e-06 ENSE00000865703_016 ENSE00000865703 016 16 3729676 3729845 - 44 72 54 C G 3729741 220 105 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACCATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679739 3679740 3679740 exon -22 0.7083333 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACCATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 130 108 1 0.8 0.9 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 -0.1241259 0.9461025 0.9543796 NA -0.05437965 NA FALSE NA 0.011 -1.834 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:3679740 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 synonymous_variant 0.340698 0.05586 0.01359 0.706548 0.640337 0 1.620376e-17 FALSE 2.03118e-05 ENSE00000865703_023 ENSE00000865703 023 16 3729676 3729845 - 44 72 54 G C 3729770 227 76 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACAGAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679768 3679769 3679769 exon 22 0.3055556 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACAGAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant NA NA NA NA NA 177 27 1 0.9940968 0.9970484 0.997346 0.894859 0.9846334 0.9241259 NA NA 0.0153666 0.06997089 0.9461025 0.9543796 NA 0.04266875 NA FALSE NA 0.997 2.846 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:3679769 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 missense_variant 1.894799 0.97893 0.95013 0.706548 0.9802584 0 1.620376e-17 FALSE 0.00031285 ENSE00000865703_032 ENSE00000865703 032 16 3729676 3729845 - 44 72 54 T C 3729793 236 53 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCGGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT 3679674 3679844 3679791 3679792 3679792 upstr_intron -2 -0.01851852 CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCGGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT CACCCGGCTCCCCAGGTGCTGGGGGCTTGGCACTTAGTGCGTCTCTCTCCTCAGGATACTGGTATCGGGATGACACAGGAAGAGCTGGTGTCCAACCTGGGGACGATTGCCAGATCGGGGTCAAAGGTAAGCGTGGGGCCCCCACACAGCCTCCCCCTTCCCCTCAGGGT mutant 24 49 0.85 0.85 0.85 NA NA NA NA NA 0.997346 0.894859 0.9846334 0.9241259 -0.147346 -0.04485902 NA NA 0.9461025 0.9543796 -0.09610251 NA NA NA FALSE 1 7.298 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:3679792 TRAP1 HGNC Symbol protein_coding 65958 ENSG00000126602 ENSE00003683439 splice_acceptor_variant 5.106176 0.98929 0.99533 0.359288 0.9946114 0.976514 1.620376e-17 FALSE 4.06537e-06 ENSE00000890958_003 ENSE00000890958 003 11 3060394 3060563 - 30 99 41 C T 3060432 161 132 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGTGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039201 3039202 3039202 exon -9 0.9191919 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCACCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant 34 12 0.8601325 1 0.9300663 90 113 1 1 1 0.9716501 0.981853 0.9830005 0.9706209 -0.1115176 0.01814704 0.01699952 0.02937907 0.9767516 0.9768107 -0.04668529 0.02318929 0.06987459 FALSE FALSE 1 7.19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3039202 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 6.378653 0.99202 0.98683 0.736574 0.9987957 0 2.962886e-06 FALSE 0.000167306 ENSE00000890958_007 ENSE00000890958 007 11 3060394 3060563 - 30 99 41 G T 3060461 165 103 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCTCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039230 3039231 3039231 exon -38 0.6262626 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGAGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 951 847 0.9956203 0.9831472 0.9893838 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01261985 0.01252626 0.9767516 0.9768107 NA 0.01257305 NA FALSE NA 0.985 6.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3039231 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 2.02441 0.94099 0.97653 0.736574 0.764852 0 2.962886e-06 FALSE 4.066e-06 ENSE00000890958_009 ENSE00000890958 009 11 3060394 3060563 - 30 99 41 T A 3060473 167 91 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCATCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039242 3039243 3039243 exon -50 0.5050505 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGATGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 171 460 0.9975682 0.999001 0.9982846 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01456773 0.02838006 0.9767516 0.9768107 NA 0.0214739 NA FALSE NA 0.988 1.128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3039243 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 3.452411 0.81578 0.85731 0.736574 0.9903836 0 2.962886e-06 FALSE 9.75277e-05 ENSE00000890958_013 ENSE00000890958 013 11 3060394 3060563 - 30 99 41 G T 3060480 171 84 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCTATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039249 3039250 3039250 exon 43 0.4343434 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATAGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant 92 209 0.85 0.85 0.85 NA NA NA NA NA 0.9716501 0.981853 0.9830005 0.9706209 -0.1216501 -0.131853 NA NA 0.9767516 0.9768107 -0.1267516 NA NA NA FALSE 0.999 2.718 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3039250 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 synonymous_variant 0.768176 0.97803 0.73221 0.736574 0.7008336 0 2.962886e-06 FALSE 1.62541e-05 ENSE00000890958_016 ENSE00000890958 016 11 3060394 3060563 - 30 99 41 G C 3060490 174 74 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCCAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTGGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039259 3039260 3039260 exon 33 0.3333333 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTGGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant NA NA NA NA NA 158 462 1 0.9996698 0.9998349 0.9716501 0.981853 0.9830005 0.9706209 NA NA 0.01699952 0.02904889 0.9767516 0.9768107 NA 0.02302421 NA FALSE NA 0.233 -0.176 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3039260 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 missense_variant 0.386827 0.92605 0.34722 0.736574 0.627393 0 2.962886e-06 FALSE 2.43887e-05 ENSE00000890958_026 ENSE00000890958 026 11 3060394 3060563 - 30 99 41 G C 3060525 184 39 GGTTTCTAGAGCAGACAGCAAGAGGCCCACCTTCAGGGCGGCCTGAACATCCTCCAAGAGCTGTGCCGCTTCAGGCCTCTTCTCCCGATACTGCTCGAACAGGTGGTTCTGCCGGGCCCTCTTGATGATCTCGGGAGGGAAGGCAGACATTGGGGAGTGATGCTTGGATC 3039163 3039333 3039294 3039295 3039295 upstr_intron -3 -0.04878049 GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCGAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC GATCCAAGCATCACTCCCCAATGTCTGCCTTCCCTCCCCAGATCATCAAGAGGGCCCGGCAGAACCACCTGTTCGAGCAGTATCGGGAGAAGAGGCCTGAAGCGGCACAGCTCTTGGAGGATGTTCAGGCCGCCCTGAAGGTGGGCCTCTTGCTGTCTGCTCTAGAAACC mutant 30 136 0 0 0 NA NA NA NA NA 0.9716501 0.981853 0.9830005 0.9706209 -0.9716501 -0.981853 NA NA 0.9767516 0.9768107 -0.9767516 NA NA NA TRUE 0.992 1.593 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:3039295 CARS HGNC Symbol protein_coding 56691 ENSG00000110619 ENSE00003526477 splice_region_variant -0.321469 0.91553 0.92348 0.099367 0.5354213 0.18443 2.962886e-06 FALSE 4.07027e-06 ENSE00000894027_007 ENSE00000894027 007 19 11422767 11422936 + 48 84 38 T A 11422807 1074 41 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTATCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA 11312090 11312260 11312130 11312131 11312131 upstr_intron -8 -0.1458333 CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTATCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA CATAAGCCCCTAACCACCTCCTGCTTGTTTTGGTGTTTGTTTCCTCAGGGCTGTTTCCATAAACTCCTAAAAATCACCAAGACTCAGAGCTTCACCCTGAGTGGGAGCTCTCTGGGAGCTGCAGTGATACAGGTAAGACCCAGCCTCTCTAGGGTCTTTGAGCTGTTTTA mutant NA NA NA NA NA 348 1161 0.9486615 0.9497316 0.9491965 0.9923118 0.9891015 0.9918361 0.9950608 NA NA -0.04317459 -0.04532928 0.9907067 0.9934485 NA -0.04425194 NA FALSE NA 0 -0.404 NA NA NA TSPAN16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:11312131 TSPAN16 HGNC Symbol protein_coding 30857 ENSG00000130167 ENSE00003681996 splice_region_variant -0.607437 0.07 0.00142 0.06567 0.3839787 0.177798 0.0002522378 FALSE 6.53595e-05 ENSE00000897653_018 ENSE00000897653 018 19 44079029 44079198 - 33 93 44 T G 44079121 2599 78 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACCCTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574968 43574969 43574969 exon 34 0.3655914 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACCCTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 3830 166 0.9479635 0.9148692 0.9314164 0.8835097 0.8910152 0.9636399 0.8810118 NA NA -0.01567642 0.0338574 0.8872624 0.9223259 NA 0.009090486 NA FALSE NA 1 3.008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:43574969 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 5.563554 0.90275 0.78618 0.627647 0.9961927 0 1.447138e-07 FALSE 8.1242e-06 ENSE00000897653_020 ENSE00000897653 020 19 44079029 44079198 - 33 93 44 G C 44079126 2601 73 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGGAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG 43574876 43575046 43574973 43574974 43574974 exon 29 0.311828 GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGGAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG GTCATCTCTGTGCCCTAATTCTCCTCTCCCACTGTTGTTTCCAGACTCACTGTGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAGACCATCTCTGTGGTCCTACAGGTGATCCTGCCACCCCACCTCCTCCTCACTAGG mutant NA NA NA NA NA 358 726 0.9932577 0.9663741 0.9798159 0.8835097 0.8910152 0.9636399 0.8810118 NA NA 0.0296178 0.08536228 0.8872624 0.9223259 NA 0.05749004 NA FALSE NA 1 5.512 NA NA NA XRCC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:43574974 XRCC1 HGNC Symbol protein_coding 37433 ENSG00000073050 ENSE00003691559 missense_variant 4.246282 0.84165 0.79802 0.627647 0.9877834 0 1.447138e-07 FALSE 4.06233e-06 ENSE00000906856_025 ENSE00000906856 025 20 36953116 36953285 + 60 60 50 G A 36953270 1172 155 CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCAGGGGTTCTGGGAGGA 38324713 38324883 38324867 38324868 38324868 downstr_intron 35 1.714286 CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCAGGGGTTCTGGGAGGA CCCCCTCTGCTCCGTCTGTAACAGCATCCTCCGAGATCCTTTTCTCATCTCTTGCTACAGATTCCAAAGGAGTCCAAATTTCGACTGACAACCAAGTTCTTTGGAACCTTCCTACCTGAGGTATGGAAGACCTTGCTTTCCTTTAGTGAGCCCCGGGGGTTCTGGGAGGA mutant NA NA NA NA NA 451 14 0.9413755 0.95 0.9456878 0.9541326 0.850053 0.9463886 0.8020872 NA NA -0.005013023 0.1479128 0.9020928 0.8742379 NA 0.07144988 NA FALSE NA 0 -0.191 NA NA NA CTD-2308N23.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 20:38324868 BPI HGNC Symbol protein_coding 33382 ENSG00000101425 ENSE00003631358 intron_variant 0.03979 0.1737 0.02584 0.053691 0.7150524 0.0448725 8.856427e-09 FALSE 2.44194e-05 ENSE00000911610_008 ENSE00000911610 008 8 33353007 33353176 + 53 75 42 C A 33353049 757 43 CCACTTAAAATTTCAGTACCCCAAAGCTAATGGCTTTCTCACCGTATCTTGTTTCAGTCTCTCCAGTAATTCCTTCTCAATGGCATTGTCCAGCTGAGCAGCTATTAATGCCTTTTCCTATAAGGGGTAAAGAGCAAATCTGTTTAATTCATCAGTGCTCATTACTCATC 33495488 33495658 33495530 33495531 33495531 upstr_intron -11 -0.1886792 GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTACCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG GATGAGTAATGAGCACTGATGAATTAAACAGATTTGCTCTTTCCCCCTTATAGGAAAAGGCATTAATAGCTGCTCAGCTGGACAATGCCATTGAGAAGGAATTACTGGAGAGACTGAAACAAGATACGGTGAGAAAGCCATTAGCTTTGGGGTACTGAAATTTTAAGTGG mutant NA NA NA NA NA 90 309 1 1 1 0.9995592 0.9996158 0.9704089 0.9891835 NA NA 0.02959107 0.01081654 0.9995875 0.9797962 NA 0.02020381 NA FALSE NA 0.004 0.325 NA NA NA MAK16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:33495531 MAK16 HGNC Symbol protein_coding 16510 ENSG00000198042 ENSE00003593628 intron_variant 0.283969 0.3022 0.21622 0.156188 0.6461836 0.0735891 0.9939805 TRUE 0.00043795 ENSE00000919890_005 ENSE00000919890 005 12 52776189 52776358 - 32 96 42 C G 52776215 1715 144 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGCGTTCATCTTCTCTAGGGCACCCAAGG 52382404 52382574 52382430 52382431 52382431 downstr_intron 6 1.193548 GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGCGTTCATCTTCTCTAGGGCACCCAAGG GTGCCCAGGCGATGAGTATTTATCCTTCTCTGTTTTATACAGGATGTGGATGCAGCTTTCATGAACAAGTCTGATCTCGAGGCCAACGTGGATACCCTAACTCAGGAAATTGACTTTCTAAAAACGCTTTACATGGAGGTGAGGGTTCATCTTCTCTAGGGCACCCAAGG mutant NA NA NA NA NA 802 84 0.9986598 1 0.9993299 0.9865661 0.9646315 0.9914071 0.9459243 NA NA 0.00725267 0.05407571 0.9755988 0.9686657 NA 0.03066419 NA FALSE NA 0.029 -0.229 NA NA NA RP3-416H24.4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:52382431 KRT84 HGNC Symbol protein_coding 7840 ENSG00000161849 ENSE00000919890 splice_region_variant 1.254261 0.23069 0.01483 0.06567 0.7272356 0.291024 9.432757e-07 FALSE 4.06408e-06 ENSE00000920482_018 ENSE00000920482 018 12 58090017 58090186 + 41 99 30 G A 58090135 2304 119 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGACCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC 57696233 57696403 57696351 57696352 57696352 exon -22 0.7878788 TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGACCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC TCTTTCTCATGTCCCCCATTCCTGCCTCATGTCTTCTCCAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGGTGAGTCTTGAGAGAGGGAAGTTGACACTC mutant NA NA NA NA NA 76 716 0.9843991 0.825101 0.9047501 NA NA 0.7821192 0.802815 NA NA 0.20228 0.02228604 NA 0.7924671 NA 0.112283 NA FALSE NA 0.987 0.143 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:57696352 OS9 HGNC Symbol protein_coding 27602 ENSG00000135506 ENSE00003504412 synonymous_variant 1.534877 0.97239 0.76115 0.706548 0.9090347 0 1.131512e-07 FALSE 8.17234e-06 ENSE00000924492_008 ENSE00000924492 008 15 81234545 81234714 + 47 87 36 G C 81234629 2249 85 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGACTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC 80942203 80942373 80942287 80942288 80942288 exon 38 0.4367816 TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGACTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC TGACTACCCAAACCTAACAATTACATTGGGTTCTATGTGTTTTCCAGAAAACAAAGGACCATTTCTTGGAGGTGAAGATGGAGAGTTCCAAGCAGCACTTCTTCCACCTCTGGAACGACTTCGCTTACATTGAAGTAAGTGCCTCTGGCCCCTGGAGGATTCGGGTTTGC mutant NA NA NA NA NA 1105 1916 0.9965147 0.9987589 0.9976368 0.9897736 0.9931734 0.994797 0.9457426 NA NA 0.001717666 0.05301637 0.9914735 0.9702698 NA 0.02736702 NA FALSE NA 1 4.533 NA NA NA KIAA1199 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:80942288 CEMIP HGNC Symbol protein_coding 172433 ENSG00000103888 ENSE00003607097 missense_variant 0.822555 0.74845 0.48206 0.562547 0.9346604 0 NA NA 4.06121e-06 ENSE00000926455_016 ENSE00000926455 016 9 100077091 100077260 + 42 96 32 G C 100077169 1043 79 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTCGGGCCGCATGAGGTAGGAAGTTTTCTGTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314886 97314887 97314887 exon 37 0.3854167 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATACAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 366 96 1 0.9871889 0.9935944 0.9328482 0.9564528 0.9829734 0.9315632 NA NA 0.01702661 0.05562563 0.9446505 0.9572683 NA 0.03632612 NA FALSE NA 1 2.731 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:97314887 AL512590.3 Clone-based (Ensembl) gene processed_transcript 138790 ENSG00000255036 ENSE00003642689 missense_variant 2.97629 0.97287 0.8268 0.562547 0.9829778 0 NA NA 4.06095e-06 ENSE00000926455_025 ENSE00000926455 025 9 100077091 100077260 + 42 96 32 G C 100077196 1052 106 TGGGCTGATCCCTGCACAGGAAAACCACTCACCATGGCTTCTTCATTTATCAGCCTGTACACTTGGGGCCGCATGAGGTAGGAAGTTTTCTCTATGACTTCTGCATATTTCTTCAACACGCTTTTTAGCTAGAAATGACAAGGCACCATACTTAGTGGCTCACTTCCTGG 97314808 97314978 97314913 97314914 97314914 exon -33 0.6666667 CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCCAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA CCAGGAAGTGAGCCACTAAGTATGGTGCCTTGTCATTTCTAGCTAAAAAGCGTGTTGAAGAAATATGCAGAAGTCATAGAGAAAACTTCCTACCTCATGCGGCCCGAAGTGTACAGGCTGATAAATGAAGAAGCCATGGTGAGTGGTTTTCCTGTGCAGGGATCAGCCCA mutant NA NA NA NA NA 12 95 0.8 0.803042 0.801521 0.9328482 0.9564528 0.9829734 0.9315632 NA NA -0.1829734 -0.1285212 0.9446505 0.9572683 NA -0.1557473 NA FALSE NA 0.993 3.782 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:97314914 AL512590.3 Clone-based (Ensembl) gene processed_transcript 138790 ENSG00000255036 ENSE00003642689 missense_variant 3.569979 0.87707 0.8721 0.562547 0.9653413 0 NA NA 8.12249e-06 ENSE00000945204_012 ENSE00000945204 012 16 71603719 71603888 - 38 84 48 C A 71603814 2742 75 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCTTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT 71569815 71569985 71569910 71569911 71569911 exon 27 0.3214286 CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCTTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT CTTTTACTTAAATTTTGATCCTTGATTTCTCCTTGCCTCTTCTTGTAGTCCAATGCTGATCTCTGTTATGGGGCGTTGGCTGCCATCCCTGGACTCCGGCCAGTCCGCCCTTCTGGGGCTATGTACCTCATGGTGAGTATGTGGGTGGCAGGCACTAGGTCAATGCATGT mutant NA NA NA NA NA 11 332 1 0.9889357 0.9944678 NA NA 0.997987 0.9933727 NA NA 0.002012999 -0.004436964 NA 0.9956798 NA -0.001211983 NA FALSE NA 0.641 -0.007 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:71569911 TAT HGNC Symbol protein_coding 11470 ENSG00000198650 ENSE00000945204 synonymous_variant 2.977633 0.25522 0.25633 0.487112 0.7498449 0 0.02143844 FALSE 1.22468e-05 ENSE00000947490_006 ENSE00000947490 006 17 45367506 45367675 + 45 90 35 T G 45367548 2296 43 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCGAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA 47290139 47290309 47290181 47290182 47290182 upstr_intron -3 -0.04444444 CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCGAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA CAGCTTCCTTTGGTAAGCTCTGGACATCTTTGTTTTCCTTTCTAGAACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCCATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGGGTAAGTGTCTTGTGCTGGGAATAGTCCCGCGGAGA mutant 13 61 0 0 0 NA NA NA NA NA 0.996107 0.9587687 0.9987237 1 -0.996107 -0.9587687 NA NA 0.9774378 0.9993618 -0.9774378 NA NA NA TRUE 0.995 0.883 NA NA NA ITGB3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:47290182 ITGB3 HGNC Symbol protein_coding 57970 ENSG00000259207 ENSE00003472172 splice_region_variant 1.57103 0.96809 0.93334 0.156188 0.8425465 0.516539 0.1416995 FALSE 4.06091e-06 ENSE00000951617_009 ENSE00000951617 009 19 16591392 16591561 - 33 93 44 G A 16591434 1509 128 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCACCCCAGGTGGCCTTGCCAAAATTATCTGCGTACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480622 16480623 16480623 exon -10 0.9032258 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGTGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 551 10 0.9985722 1 0.9992861 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04453504 0.005497234 0.9725717 0.97427 NA 0.02501614 NA FALSE NA 0 -0.734 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16480623 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 synonymous_variant 1.406087 0.11978 0.01493 0.553676 0.7130015 0 8.793443e-08 FALSE 5.2803e-05 ENSE00000951617_013 ENSE00000951617 013 19 16591392 16591561 - 33 93 44 G A 16591464 1513 98 TGATGTAGGAAGAGTTAATCACGTGCTTCATACCTTGGTTTCGCCCCAGGTGGCCTTGCCAAAATTATCTGCATACTCTTCATCATCTGTGATCAGAAAGTTATCAAAAATGGTTCCAGATCTCACCTGCAGATGAAAATAAGGCCTTCATTATTATGCTTTTATTCTTT 16480580 16480750 16480652 16480653 16480653 exon -40 0.5806452 AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTATGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA AAAGAATAAAAGCATAATAATGAAGGCCTTATTTTCATCTGCAGGTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGATGATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAGGTATGAAGCACGTGATTAACTCTTCCTACATCA mutant NA NA NA NA NA 1334 483 0.9986659 1 0.9993329 0.9567373 0.9884061 0.9540372 0.9945028 NA NA 0.04462869 0.005497234 0.9725717 0.97427 NA 0.02506296 NA FALSE NA 0.755 0.037 NA NA NA CALR3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16480653 CALR3 HGNC Symbol protein_coding 17135 ENSG00000269058 ENSE00003539560 synonymous_variant -0.302759 0.9504 0.17501 0.553676 0.2833634 0 8.793443e-08 FALSE 0.701456 ENSE00000957489_008 ENSE00000957489 008 1 47030681 47030850 - 32 96 42 C G 47030727 1804 124 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCACAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT 46565008 46565178 46565054 46565055 46565055 exon -15 0.8541667 GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCACAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT GTTTCTTATATCTGTGACCCTGTCTTCTGTTTTCCTTTTCAGGTGTCTCCAGTGAAAATCTGTGACTTTGACTTGGGCAGTGGGATGAAACTGAACAACTCCTGTACCCCCATAACCACACCAGAGCTGACCACCCCAGTACGTATGCTTCCTCTGGGCTCCTAAGTATT mutant NA NA NA NA NA 867 1192 0.9311938 0.9985136 0.9648537 0.9979143 0.9956177 0.9762063 0.9740063 NA NA -0.04501244 0.0245073 0.996766 0.9751063 NA -0.01025257 NA FALSE NA 1 7.766 NA NA NA MKNK1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:46565055 MKNK1 HGNC Symbol protein_coding 59435 ENSG00000079277 ENSE00003583480 missense_variant 3.245465 0.99559 0.99601 0.706298 0.996599 0 0.000222399 FALSE 8.12143e-06 ENSE00000971855_009 ENSE00000971855 009 5 96440862 96441031 - 32 96 42 G C 96440939 881 93 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCAGTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT 97105157 97105327 97105234 97105235 97105235 exon -46 0.53125 GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCAGTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT GGAAAAATCAGTAATTTTTCTTTTTCTGCTTTCTTTCCCAAGGGCACCTTAGATGATGCAGATGACCCCAGCACCAGTGTTGGGGCCTATCACTACATGCTGGAGTCAAACATGGGGAAGACTATGCTGGAGTTTCAGGTACCTGCCTGCCTGCCACATATTTGTTTGAT mutant NA NA NA NA NA 1171 1012 0.9994761 0.9973339 0.998405 0.9799481 0.989999 0.9311291 0.9444572 NA NA 0.06834704 0.05287673 0.9849735 0.9377932 NA 0.06061189 NA FALSE NA 1 1.141 NA NA NA CTD-2215E18.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:97105235 LIX1 HGNC Symbol protein_coding 51005 ENSG00000145721 ENSE00000971855 missense_variant 0.815784 0.98165 0.91592 0.6512 0.9684707 0 0.01667469 FALSE 4.06408e-06 ENSE00000979593_016 ENSE00000979593 016 8 10690369 10690538 - 33 93 44 G T 10690435 96 104 AAAGACACCCAGGAGGCACACACTGCTGCTCACTTCATTATTGATGGTAGCTCCGAGTCCCAGGTGTTTATTTTTCACTTGAACTTTAATATGATCTGTGGCTCCTTGCTCCTGAGCCCCTAAACCCTGTGGAGATTAAACACAGAGAGTTAGAACATTCCTCTCACTGA 10832858 10833028 10832924 10832925 10832925 exon -34 0.6451613 TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAAACACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT TCAGTGAGAGGAATGTTCTAACTCTCTGTGTTTAATCTCCACAGGGTTTAGGGGCTCAGGAGCAAGGAGCCACAGATCATATTAAAGTTCAAGTGAAAAATAACCACCTGGGACTCGGAGCTACCATCAATAATGAAGTGAGCAGCAGTGTGTGCCTCCTGGGTGTCTTT mutant NA NA NA NA NA 565 14 1 1 1 0.9887535 0.9990829 0.9367133 0.9548137 NA NA 0.06328673 0.04518632 0.9939182 0.9457635 NA 0.05423653 NA FALSE NA 1 5.613 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:10832925 PINX1 HGNC Symbol protein_coding 74921 ENSG00000254093 ENSE00003590945 missense_variant 5.970381 0.98278 0.98991 0.706548 0.9979633 0 4.942792e-09 FALSE 1.63477e-05 ENSE00000996423_006 ENSE00000996423 006 11 114314527 114314696 + 51 78 41 C T 114314569 2537 43 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCTATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG 114443804 114443974 114443846 114443847 114443847 upstr_intron -9 -0.1568627 TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCTATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG TAAGGTTATTCCTGTTGTTTCTTGGTGACTGATGGCGTTTCCCATCCACAGGGTCCTAACCTGATTATAAAACAACCAGATGAGTTGCTGGACAGCATGTCAGATTGGTGTAAGGAGCATCACGGGAAGGTAACATTACCAAATAACAGGATTGCTGCTTTGGGGATCAG mutant NA NA NA NA NA 311 110 0.9995069 0.9985595 0.9990332 0.9260399 0.8761262 0.9026934 0.899776 NA NA 0.09681348 0.09878351 0.901083 0.9012347 NA 0.0977985 NA FALSE NA 0 -0.522 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:114443847 REXO2 HGNC Symbol protein_coding 10893 ENSG00000076043 ENSE00000996423 intron_variant -0.191017 0.14507 0.05105 0.294411 0.4546862 0.216353 0.8884287 FALSE 8.78426e-06 ENSE00000999243_012 ENSE00000999243 012 11 86153833 86154002 - 30 99 41 C G 86153920 2277 83 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGCAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442877 86442878 86442878 exon 42 0.4242424 GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGCAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant 219 124 0 0 0 3535 815 0.005750209 0.1411422 0.0734462 0.809425 0.8080837 0.7851016 0.7496241 -0.809425 -0.8080837 -0.7793513 -0.6084819 0.8087543 0.7673628 -0.8087543 -0.6939166 0.1148377 TRUE TRUE 0.999 0.724 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:86442878 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 synonymous_variant 1.375241 0.92383 0.67464 0.643511 0.7174169 0 1.141882e-05 FALSE 1.62615e-05 ENSE00000999243_028 ENSE00000999243 028 11 86153833 86154002 - 30 99 41 C A 86153980 2293 23 GAGACTCAGCTTATTCCTCTCGTTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG 86442790 86442960 86442937 86442938 86442938 upstr_intron -19 -0.4390244 GAGACTCAGCTTATTCCTCTCGTTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG GAGACTCAGCTTATTCCTCTCGGTTCTCTCCTTCTCCCCAGCAAATTGCCCAGGAAGTCTCTGAGCAGCATCTGTCCCAGGGGAGACTCTACCCACCACTCAGCACCATCCGAGACGTGTCTTTGAGAATTGCCATCAAAGTAAGGGGCATCCTACCCCTGTAATATGGG mutant NA NA NA NA NA 1552 1461 0.9957267 0.9966156 0.9961712 0.809425 0.8080837 0.7851016 0.7496241 NA NA 0.2106251 0.2469915 0.8087543 0.7673628 NA 0.2288083 NA FALSE NA 0.001 -0.183 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:86442938 ME3 HGNC Symbol protein_coding 231528 ENSG00000151376 ENSE00000999243 intron_variant 1.089147 0.19824 0.01846 0.074388 0.7598508 0.163673 1.141882e-05 FALSE 0.00147182 ENSE00001006072_010 ENSE00001006072 010 4 88580298 88580467 + 74 33 63 G T 88580380 927 83 TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCATTTTGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT 87659145 87659315 87659227 87659228 87659228 exon 9 0.2727273 TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCATTTTGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT TATTGTAAATAATTACAATAATGAAATCCATCTGTGAGGGAGTAATTTGTTTTCCTTCCTTTCCTTTTTTGCAGGGTCATTTGGCTCAGGCACCAACACCACCCTTGGTAACTATCTCATTTACTTTTGTCATAAACATCTCATGAAGTAACTTTAACACTCTTCCAGTT mutant NA NA NA NA NA 406 15 0.8192747 0.8 0.8096373 NA NA 0.8843013 0.9887543 NA NA -0.06502666 -0.1887543 NA 0.9365278 NA -0.1268905 NA FALSE NA 0.194 1.418 NA NA NA RP11-742B18.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 4:87659228 DMP1 HGNC Symbol protein_coding 14054 ENSG00000152592 ENSE00001006072 missense_variant 3.460807 0.20407 0.08368 0.553676 0.9971128 0 0.0002230141 FALSE NA ENSE00001033448_003 ENSE00001033448 003 11 44948177 44948346 + 48 84 38 A G 44948195 1113 19 GGACTCTCAACCCTGGCCGTAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926643 44926644 44926644 upstr_intron -30 -0.6041667 GGACTCTCAACCCTGGCCGTAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 23 28 0.9856002 0.9148993 0.9502497 169 462 0.9575178 1 0.9787589 0.9909388 0.9896436 0.9211231 0.8385314 -0.005338624 -0.07474425 0.03639464 0.1614686 0.9902912 0.8798273 -0.04004144 0.09893163 0.1389731 FALSE FALSE 0 -0.57 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:44926644 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 non_coding_transcript_exon_variant 0.03357 0.2223 0.01412 0.162113 0.4019633 0.046875 0.1618604 FALSE 0.000211685 ENSE00001033448_009 ENSE00001033448 009 11 44948177 44948346 + 48 84 38 G C 44948236 1119 60 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACCGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926684 44926685 44926685 exon 12 0.1428571 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACCGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant 102 25 0.7572447 0.8733628 0.8153038 107 752 0.9938163 0.9955012 0.9946588 0.9909388 0.9896436 0.9211231 0.8385314 -0.2336941 -0.1162808 0.0726932 0.1569698 0.9902912 0.8798273 -0.1749874 0.1148315 0.2898189 FALSE FALSE 0 -4.768 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:44926685 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 synonymous_variant -0.0066 0.15739 0.04932 0.743674 0.6898344 0 0.1618604 FALSE 0 ENSE00001033448_023 ENSE00001033448 023 11 44948177 44948346 + 48 84 38 G T 44948291 1133 115 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCTGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG 44926625 44926795 44926739 44926740 44926740 exon -18 0.797619 GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCTGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG GGACTCTCAACCCTGGCCATAGCTTGACCTCTCATCCCTCCCTCCCAGGGCTGTTACACGGTGATCCTCAACACCTTCGAGACCTACGTCTACTTGGCCGGAGCCCTTGCCATCGGGGTACTGGCCATCGAGGTAAGTAAAGGCCCCCACTTCTGCCGCTCCCCAGGATG mutant NA NA NA NA NA 758 202 0.9926261 0.9916882 0.9921572 0.9909388 0.9896436 0.9211231 0.8385314 NA NA 0.07150301 0.1531568 0.9902912 0.8798273 NA 0.1123299 NA FALSE NA 1 8.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:44926740 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003610170 missense_variant 6.932449 0.97212 0.96895 0.743674 0.9926039 0 0.1618604 FALSE 4.06157e-06 ENSE00001040098_004 ENSE00001040098 004 8 24255137 24255306 + 59 63 48 T C 24255182 315 46 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTCATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA 24397623 24397793 24397668 24397669 24397669 upstr_intron -14 -0.220339 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTCATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA mutant NA NA NA NA NA 143 2458 0.9779448 0.9419262 0.9599355 NA NA 0.8779727 0.9962321 NA NA 0.09997214 -0.05430593 NA 0.9371024 NA 0.02283311 NA FALSE NA 0.298 0.144 NA NA NA ADAMDEC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:24397669 ADAMDEC1 HGNC Symbol protein_coding 21728 ENSG00000134028 ENSE00003689747 intron_variant 1.65722 0.2568 0.04223 0.074636 0.7949564 0.217913 1.761779e-09 FALSE 2.04774e-05 ENSE00001040098_010 ENSE00001040098 010 8 24255137 24255306 + 59 63 48 C T 24255211 321 75 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTTGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA 24397623 24397793 24397697 24397698 24397698 exon 16 0.2539683 CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTTGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA CTTTGGAATCTTTTAGGATAAAGATAATGATTAACAATGTTCTTTTATTCTTTGTAAAGAAAGAAGACTTTCTTCGGGCACAGAAATACATTGATCTCTATTTGGTGCTGGATAATGCCTTTGTGAGTATGAAACACACGGCCCTCTCGGCCAGTTCAGTCACCCTTTAA mutant NA NA NA NA NA 29 210 0 0 0 NA NA 0.8779727 0.9962321 NA NA -0.8779727 -0.9962321 NA 0.9371024 NA -0.9371024 NA TRUE NA 0.476 0.836 NA NA NA ADAMDEC1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:24397698 ADAMDEC1 HGNC Symbol protein_coding 21728 ENSG00000134028 ENSE00003689747 missense_variant 5.836148 0.89658 0.2305 0.487112 0.9980964 0 1.761779e-09 FALSE 0.000118319 ENSE00001066716_011 ENSE00001066716 011 1 58992891 58993060 - 42 75 53 G A 58992964 2067 97 TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGTTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG 58527218 58527388 58527291 58527292 58527292 exon -32 0.5866667 TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGTTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG TTTTTTCGTGAAATAAATTGTCTTAATGGAGCTTTTCTGTCATTTCTTCTTAGTATATGTTTAATAGACCATACAGCAGAAAATTGGAGGCCGAAGCTGACAAAATTGGACTACTGCTTGCTGCAAAGGTAAAGTGTTTAGTAGTTGAGAATACATAATGCCCTTCCCAG mutant NA NA NA NA NA 83 115 0.9979997 1 0.9989998 NA NA 0.994937 0.9977737 NA NA 0.003062647 0.002226255 NA 0.9963554 NA 0.002644451 NA FALSE NA 1 8.387 NA NA NA OMA1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:58527292 OMA1 HGNC Symbol protein_coding 131418 ENSG00000162600 ENSE00003589509 missense_variant 6.499832 0.99234 0.98743 0.638212 0.9989696 0 3.511329e-09 FALSE 4.06448e-06 ENSE00001076964_001 ENSE00001076964 001 3 151100399 151100568 + 45 90 35 A C 151100410 3324 12 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTTGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTGAATTTTTCTCT 151382610 151382780 151382621 151382622 151382622 upstr_intron -34 -0.7333333 AGAGAAAAATTCAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 957 930 1 0.9984297 0.9992148 NA NA 0.903493 0.9600511 NA NA 0.09650704 0.03837853 NA 0.9317721 NA 0.06744278 NA FALSE NA 0 -1.872 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:151382622 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 intron_variant -0.225509 0.11419 0.005 0.093295 0.4231406 0.0514581 0.9999993 TRUE 0.00130373 ENSE00001076964_010 ENSE00001076964 010 3 151100399 151100568 + 45 90 35 A T 151100475 3333 77 TTTAATGGAGGGAAAATACTAGAAATGTCACTTACCAAATTTAGGCGGAGTTGCAATGCTTCGTGCATCATCTGCCGCGCTTTTATGTCATCTAGGTATCGTTCTTCTCTCCAGTTACTTAAAATCTAAGATCCGGAAAAAAACTCCCCATTAAAGTTTAATTTTTCTCT 151382610 151382780 151382686 151382687 151382687 exon 32 0.3555556 AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCTAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA AGAGAAAAATTAAACTTTAATGGGGAGTTTTTTTCCGGATCTTAGATTTTAAGTAACTGGAGAGAAGAACGATACCAAGATGACATAAAAGCGCGGCAGATGATGCACGAAGCATTGCAACTCCGCCTAAATTTGGTAAGTGACATTTCTAGTATTTTCCCTCCATTAAA mutant NA NA NA NA NA 169 156 0.9970407 1 0.9985203 NA NA 0.903493 0.9600511 NA NA 0.09354773 0.03994886 NA 0.9317721 NA 0.0667483 NA FALSE NA 1 9.05 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:151382687 MED12L HGNC Symbol protein_coding 351375 ENSG00000144893 ENSE00001076964 missense_variant 2.8302 0.99438 0.99142 0.615465 0.9815963 0 0.9999993 TRUE 3.27172e-05 ENSE00001084404_004 ENSE00001084404 004 6 139568921 139569090 - 33 93 44 A G 139568942 2298 149 GTCAATATTTTGTTGGTGATAGGCAATACTCACTTTGTCCATTTCCTGTTTGAACGTGGCAAACACCTCGTTGCTTTTAGTTAGTGTGCTCTGGAATTCTTCAAACCTTCCTGAGTAGAGAGTGAGCTGTAAACAGAGGAAAGAGTGGATCTTTCAGAATACTTCCAGAA 139247783 139247953 139247804 139247805 139247805 downstr_intron 12 1.375 TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCCTATCACCAACAAAATATTGAC TTCTGGAAGTATTCTGAAAGATCCACTCTTTCCTCTGTTTACAGCTCACTCTCTACTCAGGAAGGTTTGAAGAATTCCAGAGCACACTAACTAAAAGCAACGAGGTGTTTGCCACGTTCAAACAGGAAATGGACAAAGTGAGTATTGCTTATCACCAACAAAATATTGAC mutant NA NA NA NA NA 524 129 1 1 1 NA NA 0.9590426 0.998632 NA NA 0.04095738 0.001368027 NA 0.9788373 NA 0.0211627 NA FALSE NA 0 -0.329 NA NA NA TXLNB NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:139247805 TXLNB HGNC Symbol protein_coding 52078 ENSG00000164440 ENSE00001084404 intron_variant 0.18167 0.2015 0.04598 0.125411 0.4996517 0.156044 1.645778e-16 FALSE NA ENSE00001089895_016 ENSE00001089895 016 9 72090932 72091101 - 32 96 42 G A 72091034 551 68 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCTCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476117 69476118 69476118 exon 26 0.2708333 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCTCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 509 762 0.9998382 0.8820582 0.9409482 0.9860417 1 0.9663862 0.9296835 NA NA 0.03345202 -0.04762536 0.9930208 0.9480348 NA -0.007086669 NA FALSE NA 1 7.442 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:69476118 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 7.022186 0.9934 0.98024 0.554377 0.9965703 0 0.8658413 FALSE 2.0348e-05 ENSE00001089895_020 ENSE00001089895 020 9 72090932 72091101 - 32 96 42 G C 72091050 555 52 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTGCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG 69476015 69476185 69476133 69476134 69476134 exon 10 0.1041667 GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTGCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG GTCTCTCAAGTTCTCACTGTGTTTCCTCTTGCTGTGTTCTAGTCTCCGTCTCCTGGCAGCTCCTCCCCCTTGGGTGCAGAGTCATCAAGCACATCTCTTCACCCCAGTGACCCTGTGGAAGCGTCCACTAATAAAGAGGTAGGGTGCTGTTTTGTTACCAAAGCCATTGG mutant NA NA NA NA NA 180 779 0.997924 0.9708807 0.9844023 0.9860417 1 0.9663862 0.9296835 NA NA 0.03153781 0.04119714 0.9930208 0.9480348 NA 0.03636747 NA FALSE NA 1 4.505 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:69476134 APBA1 HGNC Symbol protein_coding 244776 ENSG00000107282 ENSE00001089895 missense_variant 2.52484 0.98859 0.95605 0.554377 0.9831834 0 0.8658413 FALSE 8.15435e-06 ENSE00001090508_012 ENSE00001090508 012 9 86588773 86588942 - 44 72 54 G T 86588923 706 20 ATAGCCTGATCACGCTAGAAACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG 83973857 83974027 83974007 83974008 83974008 upstr_intron -35 -0.6296296 ATAGCCTGATCACGCTAGAAACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG ATAGCCTGATCACGCTAGACACTTAACCTATTACTCTTATTTTTCTACTTTCAGGGCCTGCAGTTGCCATCACCCACTGCAACCAGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAATGTATGTCATAGTGCCATTGAACCCCACTGAAGTATGGAGCCTGG mutant NA NA NA NA NA 118 634 1 0.9928391 0.9964196 0.9849245 0.9611646 0.9282582 0.969536 NA NA 0.07174176 0.02330313 0.9730445 0.9488971 NA 0.04752245 NA FALSE NA 1 4.395 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:83974008 HNRNPK HGNC Symbol protein_coding 12533 ENSG00000165119 ENSE00003507975 intron_variant 2.26217 0.93306 0.88415 0.069865 0.8476906 0.982536 0.9997824 TRUE 8.22112e-06 ENSE00001104098_004 ENSE00001104098 004 16 66547595 66547764 - 39 81 50 C G 66547639 2109 126 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTCTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513735 66513736 66513736 exon -6 0.9382716 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTCTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant NA NA NA NA NA 109 214 1 1 1 NA NA 0.9975726 0.9870661 NA NA 0.002427419 0.01293389 NA 0.9923193 NA 0.007680655 NA FALSE NA 1 5.455 NA NA NA TK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:66513736 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 missense_variant 6.703798 0.95422 0.90227 0.75658 0.9981961 0 0.003269753 FALSE 5.68907e-05 ENSE00001104098_009 ENSE00001104098 009 16 66547595 66547764 - 39 81 50 G C 66547653 2114 112 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCGCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG 66513691 66513861 66513749 66513750 66513750 exon -20 0.7654321 TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCGCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG TGGGGTCTGCTCTGTCCACTCCCGACAGACTGCTTGTGTTTCCCTGGCAGGAATACCTGGAAGCAATTCACCATCTCCATGAGGAGTGGCTCATCAAAGGCAGCCTTTTCCCCATGGCAGCCCCTGTTCTGGTAAGTAAGACTCCCTTACAGGGTACGAGACTGTTCTAG mutant NA NA NA NA NA 69 159 1 1 1 NA NA 0.9975726 0.9870661 NA NA 0.002427419 0.01293389 NA 0.9923193 NA 0.007680655 NA FALSE NA 0.924 1.472 NA NA NA TK2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:66513750 TK2 HGNC Symbol protein_coding 44541 ENSG00000166548 ENSE00003593295 missense_variant 5.295171 0.61928 0.48579 0.75658 0.9849791 0 0.003269753 FALSE 4.06303e-06 ENSE00001113279_007 ENSE00001113279 007 19 16240299 16240468 + 65 51 54 G T 16240349 1333 51 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCAAATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129538 16129539 16129539 upstr_intron -15 -0.2153846 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATTTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 1506 954 0.7999735 0.8 0.7999867 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.03900571 0.1295244 0.8470902 0.7547274 NA 0.04525933 NA FALSE NA 0 -1.423 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16129539 RAB8A HGNC Symbol protein_coding 22605 ENSG00000167461 ENSE00003672157 intron_variant 0.669223 0.17173 0.04774 0.256867 0.8198493 0.143798 0.962129 TRUE 1.62528e-05 ENSE00001113279_012 ENSE00001113279 012 19 16240299 16240468 + 65 51 54 G A 16240379 1338 81 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGTGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129568 16129569 16129569 exon 16 0.3137255 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCACCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 1905 655 0.04220825 0.002243686 0.02222597 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.7967709 -0.6682319 0.8470902 0.7547274 NA -0.7325014 NA TRUE NA 1 9.615 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16129569 RAB8A HGNC Symbol protein_coding 22605 ENSG00000167461 ENSE00003672157 missense_variant 4.813938 0.96617 0.98069 0.706548 0.9988343 0 0.962129 TRUE 1.62681e-05 ENSE00001113279_015 ENSE00001113279 015 19 16240299 16240468 + 65 51 54 T C 16240387 1341 89 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATGTCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129576 16129577 16129577 exon 24 0.4705882 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGACATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 72 719 1 1 1 0.8492822 0.8448982 0.8389792 0.6704756 NA NA 0.1610208 0.3295244 0.8470902 0.7547274 NA 0.2452726 NA FALSE NA 1 1.156 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16129577 RAB8A HGNC Symbol protein_coding 22605 ENSG00000167461 ENSE00003672157 missense_variant 0.538231 0.86346 0.27694 0.706548 0.8428379 0 0.962129 TRUE 1.6273e-05 ENSE00001113279_021 ENSE00001113279 021 19 16240299 16240468 + 65 51 54 G A 16240433 1347 135 CGATGGCTGGATCCCAGAGATCCACCCGGGGATCTTGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129622 16129623 16129623 downstr_intron 19 1.358491 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCAAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 864 980 0.9386315 0.8620833 0.9003574 0.8492822 0.8448982 0.8389792 0.6704756 NA NA 0.09965238 0.1916076 0.8470902 0.7547274 NA 0.14563 NA FALSE NA 0 -1.724 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16129623 RAB8A HGNC Symbol protein_coding 22605 ENSG00000167461 ENSE00003672157 intron_variant 0.1611 0.14705 0.02238 0.099367 0.9028407 0.0533846 0.962129 TRUE 3.28434e-05 ENSE00001113279_026 ENSE00001113279 026 19 16240299 16240468 + 65 51 54 G A 16240442 1352 144 CGATGGCTGGATCCCAGAGATCCACCTGGGGATCTCGGAAGGACACACACTCACCAATTTTTTGTCCATTTTTGCTTTGATATCTCTGGCGAGAGTGAAAAATGCCTGTGGAATAAGCACATTGTGAGTCCTTGGGATGGCAGGACCCTGAGTCCTCAGCCGCCCGTGTA 16129488 16129658 16129631 16129632 16129632 downstr_intron 28 1.528302 TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCAGGTGGATCTCTGGGATCCAGCCATCG TACACGGGCGGCTGAGGACTCAGGGTCCTGCCATCCCAAGGACTCACAATGTGCTTATTCCACAGGCATTTTTCACTCTCGCCAGAGATATCAAAGCAAAAATGGACAAAAAATTGGTGAGTGTGTGTCCTTCCGAGATCCCCGGGTGGATCTCTGGGATCCAGCCATCG mutant NA NA NA NA NA 878 479 0.7371034 0.5714725 0.654288 0.8492822 0.8448982 0.8389792 0.6704756 NA NA -0.1018757 -0.09900312 0.8470902 0.7547274 NA -0.1004394 NA FALSE NA 0 -0.554 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16129632 RAB8A HGNC Symbol protein_coding 22605 ENSG00000167461 ENSE00003672157 intron_variant 0.041002 0.12848 0.03123 0.099367 0.6471339 0.0693438 0.962129 TRUE 1.23345e-05 ENSE00001113280_004 ENSE00001113280 004 19 16238779 16238948 + 57 66 47 C G 16238793 1296 15 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGCGCGCATCTGAGCTT 16127968 16128138 16127982 16127983 16127983 upstr_intron -43 -0.7368421 AAGCTCAGATGCGCGCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 133 63 0.9444579 1 0.9722289 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.05456647 0.01104617 0.8871635 0.9939891 NA -0.02176015 NA FALSE NA 0 0.082 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16127983 RAB8A HGNC Symbol protein_coding 22605 ENSG00000167461 ENSE00001113280 non_coding_transcript_exon_variant 0.214317 0.19822 0.09644 0.256867 0.6042146 0.0824744 0.962129 TRUE 4.07432e-06 ENSE00001113280_010 ENSE00001113280 010 19 16238779 16238948 + 57 66 47 G A 16238815 1302 37 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCAGGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACATGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128004 16128005 16128005 upstr_intron -21 -0.3508772 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCATGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 884 561 0.9969049 0.999718 0.9983114 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.002119481 0.01076415 0.8871635 0.9939891 NA 0.004322335 NA FALSE NA 0 -1.577 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16128005 RAB8A HGNC Symbol protein_coding 22605 ENSG00000167461 ENSE00001113280 non_coding_transcript_exon_variant -0.281988 0.15395 0.03892 0.256867 0.6627995 0.0825786 0.962129 TRUE 5.69198e-05 ENSE00001113280_026 ENSE00001113280 026 19 16238779 16238948 + 57 66 47 C A 16238916 1318 138 GGCCGATCCTGCAGGCCCCATGTCTCCCAGCATGGCCCGGGACTCACATTTTCCACATTGATGTTGGCCTTCGCGCTGGTCTCCATGAACTTGATTCCATAGTCGAGGGCCAGCTGTGAGAGAGGGAGGCACACGCATGAGCACACCAGCCGCCGGGCGCATCTGAGCTT 16127968 16128138 16128105 16128106 16128106 downstr_intron 15 1.326087 AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCATGCTGGGAGACATGGGGCCTGCAGGATCGGCC AAGCTCAGATGCGCCCGGCGGCTGGTGTGCTCATGCGTGTGCCTCCCTCTCTCACAGCTGGCCCTCGACTATGGAATCAAGTTCATGGAGACCAGCGCGAAGGCCAACATCAATGTGGAAAATGTGAGTCCCGGGCCCTGCTGGGAGACATGGGGCCTGCAGGATCGGCC mutant NA NA NA NA NA 529 1948 0.9980387 0.9931745 0.9956066 0.9797483 0.7945786 0.9990244 0.9889538 NA NA -0.0009856106 0.004220711 0.8871635 0.9939891 NA 0.00161755 NA FALSE NA 0.001 -0.404 NA NA NA CTD-2231E14.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:16128106 RAB8A HGNC Symbol protein_coding 22605 ENSG00000167461 ENSE00001113280 intron_variant 1.324575 0.90128 0.08159 0.069865 0.7245957 0.0570006 0.962129 TRUE 4.06898e-06 ENSE00001115463_008 ENSE00001115463 008 19 4429655 4429824 + 50 81 39 T G 4429698 317 44 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTGTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT 4429657 4429827 4429700 4429701 4429701 upstr_intron -7 -0.12 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTGTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT mutant NA NA NA NA NA 17 1175 0 0 0 0.8484457 0.847831 0.8058305 0.8 NA NA -0.8058305 -0.8 0.8481383 0.8029152 NA -0.8029152 NA TRUE NA 0 -0.415 NA NA NA CHAF1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:4429701 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115463 splice_region_variant 0.998544 0.25372 0.3622 0.256867 0.629192 0.141417 0.9962262 TRUE 0 ENSE00001115463_025 ENSE00001115463 025 19 4429655 4429824 + 50 81 39 G T 4429805 334 151 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTTTCTTCACTCACAGACGGCT 4429657 4429827 4429807 4429808 4429808 downstr_intron 20 1.526316 TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTTTCTTCACTCACAGACGGCT TTCCTCCAGCCCCAAAGACAGTTGTGAGTCCCATGTGTTTCTTTTCTCAGAAGCTCCTGGACTATGAGGTGGACAGTGATGAGGAGTGGGAAGAAGAGGAGCCTGGGGAGTCCCTGTCCCACAGTGAGGGGGTAAGGATGTGCCCCAGCTGTCTTCACTCACAGACGGCT mutant NA NA NA NA NA 268 208 0.9657627 0.8195343 0.8926485 0.8484457 0.847831 0.8058305 0.8 NA NA 0.1599323 0.01953434 0.8481383 0.8029152 NA 0.08973331 NA FALSE NA 0.001 0.383 NA NA NA CHAF1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:4429808 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115463 non_coding_transcript_exon_variant -0.210286 0.1493 0.04916 0.115753 0.3806856 0.0800518 0.9962262 TRUE 4.22447e-06 ENSE00001115464_020 ENSE00001115464 020 19 4430502 4430671 + 44 93 33 G A 4430652 354 151 CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTCTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAAGGGGAGGTCACCGGCTCAG 4430504 4430674 4430654 4430655 4430655 downstr_intron 14 1.4375 CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTCTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAAGGGGAGGTCACCGGCTCAG CTGCTTTTCTATCTGATGAACTCTTTTTTTTTTCTCCTTTTGAGGATGATGATGACGACATGGGAGAGGATGAAGATGAGGACGATGGTTTCTTTGTGCCCCATGGGTACCTGTCTGAGGACGAAGGTGTGACAGAGGTGAGGGAGTGAAGGGGGAGGTCACCGGCTCAG mutant NA NA NA NA NA 660 979 1 1 1 NA NA 0.9999142 0.9879257 NA NA 8.576755e-05 0.01207433 NA 0.99392 NA 0.006080047 NA FALSE NA 0 -0.475 NA NA NA CHAF1A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:4430655 CHAF1A HGNC Symbol protein_coding 42356 ENSG00000167670 ENSE00001115464 intron_variant -0.076859 0.18253 0.01547 0.099367 0.5602286 0.0518458 0.9962262 TRUE 8.1324e-06 ENSE00001117772_005 ENSE00001117772 005 17 73035256 73035425 - 48 63 59 G A 73035280 2978 146 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGTCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039184 75039185 75039185 downstr_intron 24 1.510638 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGTCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 79 133 1 1 1 0.9962944 0.9875006 0.9921825 0.993961 NA NA 0.00781754 0.006038959 0.9918975 0.9930718 NA 0.006928249 NA FALSE NA 0 -0.226 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:75039185 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant 0.51215 0.24303 0.08845 0.295142 0.6800575 0.0494618 NA NA 0.000154354 ENSE00001117772_007 ENSE00001117772 007 17 73035256 73035425 - 48 63 59 C T 73035284 2980 142 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCATTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039188 75039189 75039189 downstr_intron 20 1.425532 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCATTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant 19 12 1 1 1 294 71 0.8926354 0.9716356 0.9321355 0.9962944 0.9875006 0.9921825 0.993961 0.003705552 0.01249941 -0.09954707 -0.02232542 0.9918975 0.9930718 0.008102483 -0.06093625 0.06903873 FALSE FALSE 0 -0.437 NA NA NA RN7SL573P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:75039189 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 intron_variant -0.027046 0.25825 0.08508 0.156188 0.5600135 0.0494618 NA NA 5.68676e-05 ENSE00001117772_017 ENSE00001117772 017 17 73035256 73035425 - 48 63 59 C G 73035343 2990 83 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTCTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA 75039160 75039330 75039247 75039248 75039248 exon 24 0.3809524 CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTCTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA CAGCTGCTGGGGTAGAATGCAGCCTGGTTTCAGAACTGAATTTCTCTTTCTTCTTAAAGGTGAAATCTTGTGCTGAGTGGGTGTCTCTCTCAAAGGCCAGGATTGTAGAATATGAGAAAGAGGTAAGGATGATGGGTAGCCGTTGCCTATAATATGGGTTCTCTCTTTCA mutant NA NA NA NA NA 633 326 0.9439233 0.9683813 0.9561523 0.9962944 0.9875006 0.9921825 0.993961 NA NA -0.04825913 -0.02557977 0.9918975 0.9930718 NA -0.03691945 NA FALSE NA 0.517 1.063 NA NA NA RN7SL573P NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:75039248 ATP5PD HGNC Symbol protein_coding 8122 ENSG00000167863 ENSE00003599114 synonymous_variant 1.483292 0.68294 0.60064 0.706548 0.8274984 0 NA NA 4.06081e-06 ENSE00001119248_024 ENSE00001119248 024 11 62543809 62543978 + 47 87 36 G A 62543945 1531 137 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTAAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776472 62776473 62776473 downstr_intron 3 1.085714 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTAAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 596 452 0.9974188 1 0.9987094 NA NA 0.9952394 0.9987298 NA NA 0.002179406 0.001270201 NA 0.9969846 NA 0.001724804 NA FALSE NA 0.989 0.074 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:62776473 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 splice_region_variant 1.886197 0.95907 0.52628 0.099367 0.8697026 0.53042 0.8198193 FALSE 4.06375e-06 ENSE00001119248_025 ENSE00001119248 025 11 62543809 62543978 + 47 87 36 G A 62543952 1532 144 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGATGCAGGCTACAGAGGGCTCAGGTGGC 62776336 62776506 62776479 62776480 62776480 downstr_intron 10 1.285714 CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGATGCAGGCTACAGAGGGCTCAGGTGGC CCCTGCTTCACATCCTTTGACTCTGGCTTTTGTTCCCTCCCTCCCAGAATAGCTCTCAGTTCATGAAGCACACCAAACGCCGGAAGCTGACGGTTGAGGACTTCAACAGGGCCCTCAGATGGAGCAGCGTGGAGGTGAGTGGGGTGCAGGCTACAGAGGGCTCAGGTGGC mutant NA NA NA NA NA 161 42 1 0.9962912 0.9981456 NA NA 0.9952394 0.9987298 NA NA 0.004760632 -0.002438615 NA 0.9969846 NA 0.001161008 NA FALSE NA 0.161 3.235 NA NA NA TAF6L NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:62776480 TAF6L HGNC Symbol protein_coding 16039 ENSG00000162227 ENSE00003474933 intron_variant 2.327297 0.92027 0.88416 0.099367 0.9127586 0.832256 0.8198193 FALSE 4.06531e-06 ENSE00001146174_005 ENSE00001146174 005 16 4405251 4405420 - 36 87 47 C T 4405273 251 148 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTAGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355271 4355272 4355272 downstr_intron 14 1.4 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTAGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 119 101 1 0.9707228 0.9853614 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 -0.01616346 0.9908307 0.9880715 NA -0.00271014 NA FALSE NA 0 0.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4355272 CORO7 HGNC Symbol protein_coding 71163 ENSG00000262246 ENSE00003558774 stop_gained 0.710258 0.3205 0.15118 0.634777 0.9344646 0 7.311512e-12 FALSE 8.17682e-06 ENSE00001146174_013 ENSE00001146174 013 16 4405251 4405420 - 36 87 47 G C 4405299 259 122 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGAGGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355297 4355298 4355298 exon -13 0.862069 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGAGGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant NA NA NA NA NA 99 564 1 0.9969747 0.9984873 0.992315 0.9893464 0.9892568 0.9868863 NA NA 0.01074318 0.0100884 0.9908307 0.9880715 NA 0.01041579 NA FALSE NA 0.195 -0.405 NA NA NA PAM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4355298 CORO7 HGNC Symbol protein_coding 71163 ENSG00000262246 ENSE00003558774 missense_variant 4.629953 0.89299 0.36667 0.706548 0.9966692 0 7.311512e-12 FALSE 0.000509892 ENSE00001146174_032 ENSE00001146174 032 16 4405251 4405420 - 36 87 47 G C 4405376 278 45 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCGAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC 4355249 4355419 4355374 4355375 4355375 upstr_intron -3 -0.04255319 AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCGAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC AGGGAGTCCTATTCCCTTACCTACCCTTCTTCTGCCCTCTCTCCCAGCTGCTGAATGCCATGGTGGCAAAACTGGGGAACCGGGAGGACCCACTCCCCCAGGACTCCTTTGAAGGCGTGGACGAGGACGAGTGGGTGAGTAGTGAGTGGCCTCACTTCCCGGCAGGCAGC mutant 32 34 0 0 0 NA NA NA NA NA 0.992315 0.9893464 0.9892568 0.9868863 -0.992315 -0.9893464 NA NA 0.9908307 0.9880715 -0.9908307 NA NA NA TRUE 0.998 2.606 NA NA NA PAM16 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:4355375 CORO7 HGNC Symbol protein_coding 71163 ENSG00000262246 ENSE00003558774 splice_region_variant 0.444319 0.96952 0.94855 0.092769 0.7556244 0.389343 7.311512e-12 FALSE 4.22115e-05 ENSE00001260272_005 ENSE00001260272 005 16 84495279 84495448 + 41 99 30 C G 84495294 3024 16 CTCTTCCCGCCTAACGTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461687 84461688 84461688 upstr_intron -26 -0.6097561 CTCTTCCCGCCTAACGTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 404 21 0.8581907 0.9923932 0.9252919 0.9638315 0.9984085 0.9980944 0.8245277 NA NA -0.1399037 0.1678655 0.98112 0.911311 NA 0.01398091 NA FALSE NA 0.001 0.405 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84461688 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 splice_region_variant 0.074179 0.14872 0.11106 0.062308 0.5017484 0.0793719 NA NA 4.06861e-06 ENSE00001260272_029 ENSE00001260272 029 16 84495279 84495448 + 41 99 30 G A 84495355 3048 77 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACAACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461748 84461749 84461749 exon 36 0.3636364 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACAACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 114 118 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 0.003 -1.27 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84461749 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 synonymous_variant 1.251925 0.86624 0.14575 0.615465 0.869069 0 NA NA 3.24857e-05 ENSE00001260272_042 ENSE00001260272 042 16 84495279 84495448 + 41 99 30 G A 84495386 3061 108 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCAATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461779 84461780 84461780 exon -33 0.6767677 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCAATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 23 50 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 1 9.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84461780 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 missense_variant 6.63207 0.97401 0.96629 0.615465 0.9991439 0 NA NA 4.06128e-06 ENSE00001260272_049 ENSE00001260272 049 16 84495279 84495448 + 41 99 30 G A 84495398 3068 120 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACACCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461791 84461792 84461792 exon -21 0.7979798 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACACCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 41 126 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 1 9.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84461792 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 missense_variant 7.68298 0.97401 0.96629 0.615465 0.9994184 0 NA NA 8.12381e-06 ENSE00001260272_054 ENSE00001260272 054 16 84495279 84495448 + 41 99 30 G C 84495411 3073 133 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCCCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461804 84461805 84461805 exon -8 0.9292929 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCCCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 165 69 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 1 9.37 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84461805 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 missense_variant 7.820552 0.97508 0.97144 0.615465 0.997888 0 NA NA 4.06124e-06 ENSE00001260272_056 ENSE00001260272 056 16 84495279 84495448 + 41 99 30 C A 84495412 3075 134 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGATCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461805 84461806 84461806 exon -7 0.9393939 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGATCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 20 77 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 0.606 -0.341 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84461806 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 synonymous_variant 2.34605 0.90866 0.52129 0.615465 0.8871787 0 NA NA 0.00019493 ENSE00001260272_062 ENSE00001260272 062 16 84495279 84495448 + 41 99 30 C T 84495425 3081 147 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGATCCGGGCTGACCCTCCTCGCTGCA 84461672 84461842 84461818 84461819 84461819 downstr_intron 7 1.241379 CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGATCCGGGCTGACCCTCCTCGCTGCA CTCTTCCCGCCTAACCTCTCACCTTTGTGCTCACCTTCCAGATGCCTGAAGACAGAGCAAGCACTCCCCGCACCACGACGATGACGTTCACTTGTTTTGTGTTTTTCGATCTCTTCAACGCCTTGACCTGCCGCTCTCAGGTGAGACCCGGGCTGACCCTCCTCGCTGCA mutant NA NA NA NA NA 289 62 1 1 1 0.9638315 0.9984085 0.9980944 0.8245277 NA NA 0.001905614 0.1754723 0.98112 0.911311 NA 0.08868896 NA FALSE NA 0.009 0.414 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:84461819 ATP2C2 HGNC Symbol protein_coding 95660 ENSG00000064270 ENSE00003633105 splice_region_variant 0.841924 0.26601 0.02246 0.062308 0.9204489 0.185723 NA NA 4.06147e-06 ENSE00001268021_010 ENSE00001268021 010 15 89020163 89020332 + 57 66 47 C T 89020237 2394 75 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGTGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477005 88477006 88477006 exon 18 0.2727273 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGTGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 272 267 0.09575715 0.004878991 0.05031807 1396 1162 0.0002148473 0.02146643 0.01084064 0.8477549 0.8444036 0.7871505 0.7544259 -0.7519978 -0.8395246 -0.7869357 -0.7329595 0.8460793 0.7707882 -0.7957612 -0.7599476 0.03581364 TRUE TRUE 0 -3.236 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:88477006 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 synonymous_variant 1.372445 0.10045 0.05051 0.712529 0.7550939 0 0.0004344816 FALSE 5.69601e-05 ENSE00001268021_013 ENSE00001268021 013 15 89020163 89020332 + 57 66 47 C G 89020250 2397 88 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCGGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG 88476931 88477101 88477018 88477019 88477019 exon 31 0.469697 GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCGGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG GAGATTTGGATGCAGTAGTTCTCTCTCCGGGGCACTAACCACTCTGCTTCTCTCCAGAGAGCTAAACAAAAGGGCGTGATCCACATCCGAGTTGTGGTGAAAGGCCTGGGGCCAGGACGCTTGGTAAGTTACAGTGATTTCCATAGTGTACTTGCCTCCTAGTAAGTGTG mutant 53 110 0.8893714 0.8820946 0.885733 1323 707 0.980319 0.9749089 0.977614 0.8477549 0.8444036 0.7871505 0.7544259 0.04161645 0.03769094 0.1931685 0.220483 0.8460793 0.7707882 0.03965369 0.2068258 0.1671721 FALSE FALSE 1 2.657 NA NA NA MRPS11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:88477019 MRPS11 HGNC Symbol protein_coding 13320 ENSG00000181991 ENSE00003612177 missense_variant 6.72002 0.91639 0.93603 0.712529 0.9987884 0 0.0004344816 FALSE 4.0664e-06 ENSE00001300583_014 ENSE00001300583 014 22 31846231 31846400 - 44 72 54 G T 31846341 550 60 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAAACTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA 31450244 31450414 31450354 31450355 31450355 exon 6 0.08333333 TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAAACTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA TGTAAGTTAAGTGAGTTAAGAAAGTTAAAACCAGTTTTCTTTTGACTCTTTTAGCGAAACCTTGAAAGCCATTTGATGTCCCCTGCTGAGATTCCAGGCCAGCCTGTCCCTAAGAACATCCTGCAGGTACTTCACAATCTTATACTGAGGCCTTGGAGTCTTGAACAGTA mutant NA NA NA NA NA 637 154 0.8 0.8009378 0.8004689 0.8429102 0.7687644 0.8454921 0.8465531 NA NA -0.04549207 -0.04561533 0.8058373 0.8460226 NA -0.0455537 NA FALSE NA 0.998 0.305 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:31450355 EIF4ENIF1 HGNC Symbol protein_coding 59131 ENSG00000184708 ENSE00001300583 missense_variant 1.7219 0.93726 0.74327 0.732398 0.9897747 0 0.9996891 TRUE 3.25296e-05 ENSE00001301553_007 ENSE00001301553 007 18 47016794 47016963 - 30 99 41 G C 47016862 589 102 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTCCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGAGATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490491 49490492 49490492 exon -39 0.6161616 TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGGACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant 38 20 0.9963501 1 0.998175 NA NA NA NA NA 0.9893338 0.9499531 0.9748903 0.9887698 0.007016228 0.05004692 NA NA 0.9696435 0.98183 0.02853158 NA NA NA FALSE 1 9.553 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:49490492 RPL17-C18orf32 HGNC Symbol protein_coding 10798 ENSG00000215472 ENSE00003697406 missense_variant 3.345559 0.98066 0.97984 0.627647 0.9776451 0 0.6059422 FALSE 4.06587e-06 ENSE00001301553_019 ENSE00001301553 019 18 47016794 47016963 - 30 99 41 G T 47016938 601 26 AGTTGCACAGGATGTTAGTGGTTTGGGTACCTTAAGTTCAGCATTACTCTCTGCGTTTTTAAGCATGTGCAGCAAAAATTCAGCACTCTTTTTGGGCCACCGACCTTGTGTCCAGCCCCATTGCTTGGCCTGAAAGAAAATGGATATGATGAGTCATTTTCCTTGATTTA 49490423 49490593 49490567 49490568 49490568 upstr_intron -16 -0.3658537 TAAATCAAGGAAAATGACTCATCATATCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT TAAATCAAGGAAAATGACTCATCATCTCCATTTTCTTTCAGGCCAAGCAATGGGGCTGGACACAAGGTCGGTGGCCCAAAAAGAGTGCTGAATTTTTGCTGCACATGCTTAAAAACGCAGAGAGTAATGCTGAACTTAAGGTACCCAAACCACTAACATCCTGTGCAACT mutant 16 46 0.85 0.85 0.85 506 753 0.982898 0.9822272 0.9825626 0.9893338 0.9499531 0.9748903 0.9887698 -0.1393338 -0.09995308 0.008007711 -0.006542535 0.9696435 0.98183 -0.1196435 0.0007325878 0.120376 FALSE FALSE 0 -1.068 NA NA NA RPL17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:49490568 RPL17-C18orf32 HGNC Symbol protein_coding 10798 ENSG00000215472 ENSE00003697406 non_coding_transcript_exon_variant 0.241074 0.27699 0.07266 0.12324 0.7166347 0.0759007 0.6059422 FALSE 4.0713e-06 ENSE00001303224_023 ENSE00001303224 023 12 64668639 64668808 - 42 75 53 C T 64668746 2392 63 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCAGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA 64274858 64275028 64274965 64274966 64274966 exon 10 0.1333333 TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCAGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA TATACTACTTGAACTTTATGAATATAACTTGTTTATTTCCTTGAGTCTTTTAGGGAAATCTCGGATTGGGATCCACAAAGTTTGCTATTAGCTGGATAATGTCCTTTCTACAAAGCTGTCCTCCCATCGTAAGTATCTAGAAGTCAAAACGAAATCACCCCCAAGCCTAA mutant NA NA NA NA NA 547 24 0.9962693 0.9983984 0.9973338 NA NA 0.9911227 0.8850942 NA NA 0.005146611 0.1133041 NA 0.9381085 NA 0.05922536 NA FALSE NA 1 3.182 NA NA NA C12orf56 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:64274966 C12orf56 HGNC Symbol protein_coding 126430 ENSG00000185306 ENSE00003556518 missense_variant 5.609456 0.98232 0.78763 0.615465 0.9991844 0 2.909335e-11 FALSE 7.32148e-05 ENSE00001306471_008 ENSE00001306471 008 17 79671615 79671784 + 48 84 38 G C 79671674 3577 60 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAACATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC 81704584 81704754 81704643 81704644 81704644 exon 12 0.1428571 CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAACATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC CCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCC mutant NA NA NA NA NA 293 185 0.8891253 0.9844177 0.9367715 0.998737 0.9958409 0.9988238 0.9962539 NA NA -0.1096986 -0.01183628 0.9972889 0.9975389 NA -0.06076742 NA FALSE NA 1 3.868 NA NA NA HGS NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:81704644 MRPL12 HGNC Symbol protein_coding 4169 ENSG00000262814 ENSE00003495385 missense_variant 3.216376 0.94061 0.81438 0.627647 0.9967868 0 0.05019714 FALSE 4.06481e-06 ENSE00001315953_001 ENSE00001315953 001 8 74231290 74231459 + 41 99 30 G T 74231300 1478 11 CATGAAATCATTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT 73319054 73319224 73319064 73319065 73319065 upstr_intron -31 -0.7317073 CATGAAATCATTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT mutant NA NA NA NA NA 314 466 0.8721894 1 0.9360947 0.9685336 0.9883433 0.9893027 0.9938497 NA NA -0.1171133 0.006150261 0.9784385 0.9915762 NA -0.05548153 NA FALSE NA 0 -2.769 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:73319065 RDH10 HGNC Symbol protein_coding 30669 ENSG00000121039 ENSE00001315953 intron_variant -0.028351 0.13769 0.01109 0.078448 0.6099815 0.0673029 0.9343201 TRUE 2.10773e-05 ENSE00001315953_009 ENSE00001315953 009 8 74231290 74231459 + 41 99 30 A T 74231443 1486 154 CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATTTAGCATTTCTTTCGTT 73319054 73319224 73319207 73319208 73319208 downstr_intron 14 1.482759 CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATTTAGCATTTCTTTCGTT CATGAAATCAGTTCTAAAACTTGAATCTTACTTTGTTTCAGACCACTAAGGCTTTTCTTCCTACGATGCTGGAGATTAATCATGGTCATATTGTGACAGTTGCAAGTTCCTTGGGATTGTTCAGTACTGCCGGAGTTGAGGTTTGTCAGATATATAGCATTTCTTTCGTT mutant NA NA NA NA NA 40 195 1 0.9922218 0.9961109 0.9685336 0.9883433 0.9893027 0.9938497 NA NA 0.01069726 -0.001627971 0.9784385 0.9915762 NA 0.004534644 NA FALSE NA 0 0.104 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:73319208 RDH10 HGNC Symbol protein_coding 30669 ENSG00000121039 ENSE00001315953 intron_variant -0.190397 0.22092 0.09972 0.078448 0.7408714 0.159612 0.9343201 TRUE 8.19659e-06 ENSE00001316627_005 ENSE00001316627 005 15 89857801 89857970 + 42 96 32 T G 89857833 2414 33 CCATTGAACCTGAAATTTAAGTCTTATGTTCTGTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314601 89314602 89314602 upstr_intron -10 -0.2142857 CCATTGAACCTGAAATTTAAGTCTTATGTTCTGTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 375 38 0.8 0.8973875 0.8486937 0.9949507 0.9954627 0.9950377 0.929829 NA NA -0.1950377 -0.03244153 0.9952067 0.9624333 NA -0.1137396 NA FALSE NA 0.001 1.051 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:89314602 FANCI HGNC Symbol protein_coding 73312 ENSG00000140525 ENSE00003532827 intron_variant 2.387425 0.29412 0.46368 0.256867 0.8934033 0.351679 5.165014e-19 FALSE 4.06253e-06 ENSE00001316627_023 ENSE00001316627 023 15 89857801 89857970 + 42 96 32 C G 89857934 2432 134 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTGCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC 89314569 89314739 89314702 89314703 89314703 exon -5 0.9583333 CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTGCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC CCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCC mutant NA NA NA NA NA 102 1444 1 0.9998641 0.999932 0.9949507 0.9954627 0.9950377 0.929829 NA NA 0.004962309 0.0700351 0.9952067 0.9624333 NA 0.03749871 NA FALSE NA 1 7.487 NA NA NA POLG NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:89314703 FANCI HGNC Symbol protein_coding 73312 ENSG00000140525 ENSE00003532827 missense_variant 6.393877 0.98049 0.97942 0.67177 0.9934333 0 5.165014e-19 FALSE 4.0623e-06 ENSE00001362586_002 ENSE00001362586 002 12 75895662 75895831 - 41 78 51 A C 75895672 2502 160 GAACTTTGCTCTTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACTAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75501891 75501892 75501892 downstr_intron 31 1.775 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAAGAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 256 517 1 0.9831654 0.9915827 NA NA 0.9674036 0.9188161 NA NA 0.03259642 0.06434926 NA 0.9431099 NA 0.04847284 NA FALSE NA 0 -0.685 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:75501892 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 3_prime_UTR_variant 0.055608 0.18328 0.19241 0.295142 0.52144 0.08661 0.01935058 FALSE 4.08924e-06 ENSE00001362586_017 ENSE00001362586 017 12 75895662 75895831 - 41 78 51 T A 75895762 2517 70 GAACTTTGCTATTCATGTGAGCCAGACATAAAGTGCCGTACCTTTATTGCTTCCATTTTCTGCCGCTTCTTCTGATTTGCCTTCAAAAAGTATTCACCACAAGCCAATTCTTTATCGATCTGTTGAAAACGGTATTTACAATTACATCAGAAATAATGTAGAGGAGAAGT 75501881 75502051 75501981 75501982 75501982 exon 19 0.2435897 ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTTGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC ACTTCTCCTCTACATTATTTCTGATGTAATTGTAAATACCGTTTTCAACAGATCGATAAAGAATTGGCTAGTGGTGAATACTTTTTGAAGGCAAATCAGAAGAAGCGGCAGAAAATGGAAGCAATAAAGGTACGGCACTTTATGTCTGGCTCACATGAATAGCAAAGTTC mutant NA NA NA NA NA 582 29 0.9961179 1 0.998059 NA NA 0.9674036 0.9188161 NA NA 0.02871434 0.08118385 NA 0.9431099 NA 0.0549491 NA FALSE NA 1 4.959 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:75501982 KRR1 HGNC Symbol protein_coding 20775 ENSG00000111615 ENSE00003653005 missense_variant 6.971362 0.971 0.97079 0.706548 0.9942662 0 0.01935058 FALSE 1.62916e-05 ENSE00001427626_020 ENSE00001427626 020 17 2866650 2866819 + 74 33 63 G C 2866784 295 135 AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTCCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA 2963355 2963525 2963489 2963490 2963490 downstr_intron 28 1.451613 AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTCCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA AGACCTGGAAACAGTGGTCAGACTTTACGGGCACTGCCGGGACTAACGGTGGCATCATCTGGTTTGTCTTGCAGGACGACTATATCCCATACCCCAGCATCGACGAGGTAGGTGCCCTCCCCTCACTCCCACCTGCCCTGCAGCCTGCTCTGGGTCCCGTCCCTGGGGAA mutant NA NA NA NA NA 34 220 1 1 1 0.9847728 0.9184102 0.997956 0.9781436 NA NA 0.002044028 0.02185637 0.9515915 0.9880498 NA 0.0119502 NA FALSE NA 0 -2.7 NA NA NA RAP1GAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:2963490 RAP1GAP2 HGNC Symbol protein_coding 282034 ENSG00000132359 ENSE00001427626 intron_variant -0.676964 0.07647 0.03534 0.078448 0.3813163 0.0666434 0.9559386 TRUE 4.06527e-06 ENSE00001461269_019 ENSE00001461269 019 2 228118769 228118938 + 59 63 48 A T 228118908 5096 140 GGCTCTACTTTATGTGTTATGGGGACAATAAAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254191 227254192 227254192 downstr_intron 18 1.382979 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTTTATTGTCCCCATAACACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 51 272 0.9881263 0.9846804 0.9864034 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.02677435 0.03925275 0.8624841 0.9533898 NA 0.03301355 NA FALSE NA 0 -0.369 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:227254192 COL4A3 HGNC Symbol protein_coding 150227 ENSG00000169031 ENSE00001461269 intron_variant 0.073465 0.14335 0.02499 0.074636 0.7379514 0.0448725 7.5755e-05 FALSE 4.06772e-06 ENSE00001461269_023 ENSE00001461269 023 2 228118769 228118938 + 59 63 48 A T 228118922 5100 154 GGCTCTACTTTATGTGATATGGGGACAATATAACTTTAAATAACCTACTGAGGGTCCAGGAGGTCCAGGCTCGCCCATTGCTCCCTTGTCTCCCTTTTCCCCCTTGAGGTCCTGCCAAAGAAACAGTTCAACATTGTTACAAATGGATGAAATGAGATTTCACTGATTCA 227254052 227254222 227254205 227254206 227254206 downstr_intron 32 1.680851 TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATATCACATAAAGTAGAGCC TGAATCAGTGAAATCTCATTTCATCCATTTGTAACAATGTTGAACTGTTTCTTTGGCAGGACCTCAAGGGGGAAAAGGGAGACAAGGGAGCAATGGGCGAGCCTGGACCTCCTGGACCCTCAGTAGGTTATTTAAAGTTATATTGTCCCCATAACACATAAAGTAGAGCC mutant NA NA NA NA NA 762 370 0.9667666 0.9764152 0.9715909 0.8470142 0.8779541 0.961352 0.9454277 NA NA 0.005414587 0.0309875 0.8624841 0.9533898 NA 0.01820104 NA FALSE NA 0.005 0.933 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:227254206 COL4A3 HGNC Symbol protein_coding 150227 ENSG00000169031 ENSE00001461269 intron_variant 0.063866 0.21919 0.06653 0.074636 0.4695729 0.0448725 7.5755e-05 FALSE 4.07445e-06 ENSE00001461281_010 ENSE00001461281 010 2 228110611 228110780 + 59 63 48 G C 228110650 5041 40 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTCAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG 227245894 227246064 227245933 227245934 227245934 upstr_intron -20 -0.3220339 TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTCAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG TTGGGTTCAGTGCTGTTTCTTGGGATGACCCTCCTCATTGAGACTTGTTCTTCTTCCAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGGTGTACCAGGATGCAGTGGTTCTAAGGTAAGTACTTTTCACACAGAAGATGATTAATAAATGCTTTGCTGAATG mutant NA NA NA NA NA 33 281 1 1 1 0.9853702 0.9918064 0.9936331 0.9878615 NA NA 0.006366907 0.01213846 0.9885883 0.9907473 NA 0.009252682 NA FALSE NA 0.13 0.895 NA NA NA AC097662.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:227245934 COL4A3 HGNC Symbol protein_coding 150227 ENSG00000169031 ENSE00001461281 non_coding_transcript_exon_variant -0.153733 0.21689 0.11026 0.074636 0.5594414 0.119696 7.5755e-05 FALSE NA ENSE00001466198_006 ENSE00001466198 006 2 174125738 174125907 + 53 75 42 C T 174125763 3251 26 TAGTAGAGCAGACTGTGTTATGGTATTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT 173261009 173261179 173261034 173261035 173261035 upstr_intron -28 -0.509434 TAGTAGAGCAGACTGTGTTATGGTATTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT TAGTAGAGCAGACTGTGTTATGGTACTACACCATCCTAACTTTTGTTTTTCAGCCACCATTTGTAATGGAGAAGTGGATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAGGTAAGCTCTGGGGGCAAGAGGCTGGTGGCCTCACCATCAGTT mutant NA NA NA NA NA 110 27 1 0.9940968 0.9970484 0.9860019 0.991396 0.9853278 0.9990348 NA NA 0.01467215 -0.00493799 0.988699 0.9921813 NA 0.004867081 NA FALSE NA 0 -0.241 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:173261035 MAP3K20 HGNC Symbol protein_coding 192575 ENSG00000091436 ENSE00001466198 intron_variant 2.198193 0.25123 0.03243 0.156188 0.8483528 0.172027 NA NA 4.06693e-06 ENSE00001505837_016 ENSE00001505837 016 17 16330722 16330891 + 41 99 30 G C 16330813 793 92 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACCGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427498 16427499 16427499 exon -49 0.5151515 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACCGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 185 408 0.9768455 0.9996122 0.9882288 NA NA 0.9912223 0.9986907 NA NA -0.01437685 0.0009214767 NA 0.9949565 NA -0.006727686 NA FALSE NA 0.997 1.022 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:16427499 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 synonymous_variant -0.262028 0.39301 0.49852 0.67177 0.4037265 0 0.005629157 FALSE 1.21881e-05 ENSE00001505837_022 ENSE00001505837 022 17 16330722 16330891 + 41 99 30 G A 16330839 799 118 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGAGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA 16427407 16427577 16427524 16427525 16427525 exon -23 0.7777778 GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGAGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA GAGGACCCAAGGCCCTAGGTCTCATCTGAGTGTGTCTTCAGCAGGCCGCCCCTCACCTGAAAGCGGAGGTTGGAAACTCCATGCTGCTGACGGGCCACATCCTTATCCTGCTAGGGGGGATCTACCTCCTCGTGGGCCAGGTGAGTGCCCCTCCCCTTCTCCTACCAAGA mutant NA NA NA NA NA 11 244 1 0.9982657 0.9991328 NA NA 0.9912223 0.9986907 NA NA 0.008777668 -0.0004250431 NA 0.9949565 NA 0.004176313 NA FALSE NA 1 3.831 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:16427525 TRPV2 HGNC Symbol protein_coding 21461 ENSG00000187688 ENSE00001505837 missense_variant 4.516445 0.90377 0.80813 0.67177 0.5672751 0 0.005629157 FALSE 8.20513e-06 ENSE00001507234_009 ENSE00001507234 009 12 124414169 124414338 + 42 96 32 C T 124414233 3830 65 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACATGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC 123929621 123929791 123929685 123929686 123929686 exon 23 0.2395833 TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACATGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC TGGTGGGTTTCAGTATAACTGAGCGTGTTCTCTTCTTTCAAGGTCTGCATGGAAATTCTGAACACGTACTTAACGAAAGCCTTCCAGCAACGGGACCCAAGGATCCCGTGGGGCAGCCTCAAGTACCTAATTGGAGAGGTAGGGGTGACCGGGGATCCTTCCGCAGGTGC mutant NA NA NA NA NA 1217 125 0.9966457 0.9842929 0.9904693 0.9965164 0.983704 0.9741485 0.9142474 NA NA 0.02249722 0.07004555 0.9901102 0.9441979 NA 0.04627138 NA FALSE NA 1 7.611 NA NA NA CCDC92 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:123929686 DNAH10 HGNC Symbol protein_coding 174018 ENSG00000197653 ENSE00001507234 missense_variant 5.547611 0.99517 0.98663 0.549168 0.9977682 0 4.140315e-37 FALSE 4.08097e-06 ENSE00001543521_022 ENSE00001543521 022 18 8635486 8635655 + 45 90 35 G T 8635642 159 157 AGTGTGTGGCAACAGTGCCTCCCACGCCCTCTCACCTTTTCCCCCTGCTGCCTGGTGATTTCTCTGTCCGTTTCACAGTCCAACTTATTTCCAACTAAGAGAAGCTCTGCATCTTCTGAAGCATACTGTGGAATTTTAAAAGAAGCCACATTTCAAAGATGGGCATCGCC 8635487 8635657 8635643 8635644 8635644 downstr_intron 22 1.647059 GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACTGTTGCCACACACT GGCGATGCCCATCTTTGAAATGTGGCTTCTTTTAAAATTCCACAGTATGCTTCAGAAGATGCAGAGCTTCTCTTAGTTGGAAATAAGTTGGACTGTGAAACGGACAGAGAAATCACCAGGCAGCAGGGGGAAAAGGTGAGAGGGCGTGGGAGGCACGGTTGCCACACACT mutant NA NA NA NA NA 912 24 0.6849618 0.8104235 0.7476926 0.8441108 0.8271402 0.8617585 0.8641905 NA NA -0.1767967 -0.053767 0.8356255 0.8629745 NA -0.1152818 NA FALSE NA 0 -2.042 NA NA NA RP11-661O13.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:8635644 RAB12 HGNC Symbol protein_coding 29936 ENSG00000206418 ENSE00001543521 non_coding_transcript_exon_variant -0.027241 0.0968 0.03067 0.099367 0.5939139 0.046875 0.7183569 FALSE 4.40308e-05 ENSE00001582750_008 ENSE00001582750 008 17 5271624 5271793 + 41 99 30 C T 5271679 528 56 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTTCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368383 5368384 5368384 exon 15 0.1515152 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTTCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant NA NA NA NA NA 1551 624 0.9942817 0.9712169 0.9827493 0.831927 0.8975315 0.8825496 0.8978075 NA NA 0.1117321 0.07340942 0.8647292 0.8901785 NA 0.09257078 NA FALSE NA 0.859 0.708 NA NA NA RABEP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:5368384 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 synonymous_variant 2.066889 0.43858 0.44021 0.706548 0.8749948 0 0.9828151 TRUE 0.00358943 ENSE00001582750_021 ENSE00001582750 021 17 5271624 5271793 + 41 99 30 G A 5271763 541 140 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATAGTAAGTTTACATTTTAAGTAAATGACAACT 5368328 5368498 5368467 5368468 5368468 exon -1 1 CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATAGTAAGTTTACATTTTAAGTAAATGACAACT CGATTTCCTAACTATGTTTCTATACATGTGTTTTTTTAAAGATCTCTGCACTCGTCCTAAGAGCCCAGGCCTCCGAGATCTTACTTGAAGAGTTACAGCAGGGGCTTTCCCAGGCAAAGAGGGATGTTCAGGAACAGATGGTAAGTTTACATTTTAAGTAAATGACAACT mutant 36 53 0.7699216 0.7481233 0.7590224 2900 436 0.9503932 0.9418122 0.9461027 0.831927 0.8975315 0.8825496 0.8978075 -0.0620054 -0.1494082 0.06784363 0.04400476 0.8647292 0.8901785 -0.1057068 0.0559242 0.161631 FALSE FALSE 1 8.572 NA NA NA RABEP1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:5368468 RABEP1 HGNC Symbol protein_coding 103547 ENSG00000029725 ENSE00003622269 missense_variant 3.430363 0.99187 0.98936 0.706548 0.9875817 0 0.9828151 TRUE 1.22235e-05 ENSE00001591839_012 ENSE00001591839 012 12 53859647 53859816 + 69 42 59 T G 53859778 1886 132 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCGTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC 53465862 53466032 53465993 53465994 53465994 downstr_intron 21 1.362069 TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCGTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC TCTTTTTCCCCCCACTGGGTGGCTGTCCGTGATTGGTTTTTAATAGGAACTGTTTTCCTCCTTTTGTAGGCCTATACCATTCAAGGACAGTATGCCATTCCACAGCCAGATGTAAGTTTTGTTTTCACTTCTTGTTTTGAAAAGCTCCCTCTCCCATCCAAAATTGTCTC mutant NA NA NA NA NA 51 236 0.8 0.9368368 0.8684184 0.85 0.8213662 0.9219256 0.9346209 NA NA -0.1219256 0.002215874 0.8356831 0.9282732 NA -0.05985484 NA FALSE NA 1 2.99 NA NA NA PCBP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:53465994 PCBP2 HGNC Symbol protein_coding 29060 ENSG00000197111 ENSE00003523658 intron_variant 1.846458 0.96626 0.94469 0.121938 0.8838078 0.795744 0.9870303 TRUE 1.21845e-05 ENSE00001606314_007 ENSE00001606314 007 12 22012481 22012650 - 39 81 50 C A 22012550 779 101 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCTCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859615 21859616 21859616 exon -31 0.6296296 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCTCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 20 62 0.8220983 0.85 0.8360491 2598 772 0.953096 0.9318851 0.9424906 0.9844107 0.9891268 0.9353338 0.9431758 -0.1623124 -0.1391268 0.01776224 -0.01129064 0.9867687 0.9392548 -0.1507196 0.0032358 0.1539554 FALSE FALSE 0.896 0.064 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:21859616 ABCC9 HGNC Symbol protein_coding 145128 ENSG00000069431 ENSE00001606314 synonymous_variant 2.949966 0.95295 0.36303 0.487112 0.7997308 0 0.0007005429 FALSE 1.62534e-05 ENSE00001606314_019 ENSE00001606314 019 12 22012481 22012650 - 39 81 50 C T 22012615 791 36 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGATGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT 21859546 21859716 21859680 21859681 21859681 upstr_intron -15 -0.28 ATCATTTACTAATATTAAAAAATGGGTATTTGGGGATGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT ATCATTTACTAATATTAAAAAATGGGTATTTGGGGGTGTCTCTTCTCTAGGGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATCTGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTGGTAAGAATATGGCCTTCCCTTTTATTTCTATTTCATTCT mutant 66 48 0.9202656 0.9496311 0.9349484 NA NA NA NA NA 0.9844107 0.9891268 0.9353338 0.9431758 -0.06414511 -0.03949562 NA NA 0.9867687 0.9392548 -0.05182036 NA NA NA FALSE 0 -1.738 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:21859681 ABCC9 HGNC Symbol protein_coding 145128 ENSG00000069431 ENSE00001606314 intron_variant 1.351446 0.24842 0.01138 0.061011 0.8244361 0.0443366 0.0007005429 FALSE 1.21952e-05 ENSE00001609036_010 ENSE00001609036 010 16 15170382 15170551 - 33 93 44 C G 15170433 1001 119 TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACCGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG 15076524 15076694 15076575 15076576 15076576 exon -19 0.8064516 TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACCGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG TTTTTTAAATCCTTTTATTCTTTTTTTTTCTCCCTTTGTTATAGGTGAATGCATCCCGGCAGGGTATTGAAGATGCTGAAGAAACAGCAACTCAAACTTGTGGTGGGACAGATTCCACGGAAGGATTGTTTAATATGGTTAGCAGTTTATTAATGAAAGTGGAGATGAAG mutant NA NA NA NA NA 16 748 1 0.9727883 0.9863942 NA NA 0.9873663 0.9856251 NA NA 0.01263367 -0.01283672 NA 0.9864957 NA -0.000101528 NA FALSE NA 0.008 -0.485 NA NA NA RRN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:15076576 RRN3 HGNC Symbol protein_coding 34295 ENSG00000085721 ENSE00003544685 synonymous_variant 1.796081 0.46319 0.05573 0.706548 0.7770227 0 0.0004745804 FALSE 8.13206e-06 ENSE00001612920_015 ENSE00001612920 015 11 60617360 60617529 + 53 75 42 C A 60617439 1349 80 CAAGTGGGGCAGAAGGGCAGAGGGGGAAAACGAGACACTCACCACTTGGACGACCTCTGCCTTCCGCTCATTCTCCAGGCGGCGTTTCAGTTTCTCAGCCCGGCGCTGTTTCTTCTCCTGGAACATGTGGGAGAAGGGGATTTGAGTCGGGGAGCAGAGGCAGCCCTGGT 60849886 60850056 60849965 60849966 60849966 exon 27 0.36 ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAAACTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG ACCAGGGCTGCCTCTGCTCCCCGACTCAAATCCCCTTCTCCCACATGTTCCAGGAGAAGAAACAGCGCCGGGCTGAGAACCTGAAACGCCGCCTGGAGAATGAGCGGAAGGCAGAGGTCGTCCAAGTGGTGAGTGTCTCGTTTTCCCCCTCTGCCCTTCTGCCCCACTTG mutant NA NA NA NA NA 146 564 1 0.9960835 0.9980418 NA NA 0.9870172 0.9946678 NA NA 0.0129828 0.001415748 NA 0.9908425 NA 0.007199276 NA FALSE NA 1 3.585 NA NA NA CCDC86 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:60849966 CCDC86 HGNC Symbol protein_coding 9010 ENSG00000110104 ENSE00003550038 missense_variant 6.083325 0.9859 0.96666 0.706548 0.9980296 0 0.001477357 FALSE 4.06501e-06 ENSE00001614247_026 ENSE00001614247 026 8 6357322 6357491 + 51 78 41 C A 6357438 62 117 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTACCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499916 6499917 6499917 exon -13 0.8461538 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTACCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 815 101 1 0.9984309 0.9992154 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.02230194 0.199972 0.9972356 0.8880785 NA 0.111137 NA FALSE NA 0.992 0.213 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:6499917 ANGPT2 HGNC Symbol protein_coding 63758 NA ENSE00003625574 missense_variant 6.656693 0.97604 0.86319 0.732398 0.9980387 0 0.454891 FALSE 0.000560456 ENSE00001614247_030 ENSE00001614247 030 8 6357322 6357491 + 51 78 41 G T 6357445 66 124 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCATCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499923 6499924 6499924 exon -6 0.9358974 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCATCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 516 797 0.8388228 0.9367345 0.8877786 0.9978491 0.9966222 0.9776981 0.7984589 NA NA -0.1388753 0.1382756 0.9972356 0.8880785 NA -0.0002998573 NA FALSE NA 1 8.891 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:6499924 ANGPT2 HGNC Symbol protein_coding 63758 NA ENSE00003625574 missense_variant 6.817652 0.99482 0.99134 0.732398 0.9977415 0 0.454891 FALSE 2.03075e-05 ENSE00001614247_034 ENSE00001614247 034 8 6357322 6357491 + 51 78 41 C T 6357450 70 129 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCTGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT 6499800 6499970 6499928 6499929 6499929 exon -1 1 CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCTGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT CTGCTAAGGCTAATAAATGTATAATAAATCTGCTTGTTGTGTCACTTGCAGGTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCCGTAAGTCAGATGTTGTTTTACGATGGTAAATGCAGTTTGCT mutant NA NA NA NA NA 156 805 0.9815359 0.9915927 0.9865643 0.9978491 0.9966222 0.9776981 0.7984589 NA NA 0.003837811 0.1931338 0.9972356 0.8880785 NA 0.09848582 NA FALSE NA 0.984 0.151 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 8:6499929 ANGPT2 HGNC Symbol protein_coding 63758 NA ENSE00003625574 splice_region_variant 1.391282 0.63617 0.1794 0.732398 0.8402351 0 0.454891 FALSE 4.46777e-05 ENSE00001623528_006 ENSE00001623528 006 2 152727006 152727175 - 39 81 50 C T 152727081 2977 95 GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCAGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG 151870491 151870661 151870566 151870567 151870567 exon -37 0.5555556 GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCAGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG mutant NA NA NA NA NA 141 304 0.9065323 0.95 0.9282661 0.8364028 0.828021 0.631418 0.6931195 NA NA 0.2751143 0.2568805 0.8322119 0.6622687 NA 0.2659974 NA FALSE NA 0.001 -1.508 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:151870567 CACNB4 HGNC Symbol protein_coding 266707 ENSG00000182389 ENSE00001623528 missense_variant 2.428636 0.49236 0.05987 0.615465 0.8186721 0 0.01136358 FALSE 2.84465e-05 ENSE00001623528_021 ENSE00001623528 021 2 152727006 152727175 - 39 81 50 C T 152727148 2992 28 GAGGCATGCTCAACCTCACCTTGTCACACGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG 151870491 151870661 151870633 151870634 151870634 upstr_intron -23 -0.44 GAGGCATGCTCAACCTCACCTTGTCACACGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG GAGGCATGCTCAACCTCACCTTGTCACGCGTGTCGAATCATCTTTTTCAGACGGAGCACATTCCTCCTTACGATGTTGTACCGTCAATGCGTCCGGTGGTGTTAGTGGGGCCGTCACTGAAAGGTTACGAGGTACAAATATCATCTGTTACTCTTCAGTTCTTGATCGAG mutant NA NA NA NA NA 327 451 0.9674546 0.956294 0.9618743 0.8364028 0.828021 0.631418 0.6931195 NA NA 0.3360366 0.2631745 0.8322119 0.6622687 NA 0.2996056 NA FALSE NA 0 -3.828 NA NA NA CACNB4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:151870634 CACNB4 HGNC Symbol protein_coding 266707 ENSG00000182389 ENSE00001623528 non_coding_transcript_exon_variant -0.400715 0.15385 0.01114 0.080785 0.6964026 0.177373 0.01136358 FALSE 0.000105815 ENSE00001635067_005 ENSE00001635067 005 16 24817476 24817645 + 51 78 41 G C 24817511 1392 36 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCCCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806189 24806190 24806190 upstr_intron -16 -0.2941176 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCCCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 76 83 1 1 1 0.85 0.85 0.926379 0.9841216 NA NA 0.07362103 0.01587837 0.85 0.9552503 NA 0.0447497 NA FALSE NA 0 -0.513 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:24806190 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 intron_variant -0.146119 0.36805 0.18157 0.295142 0.5381119 0.149191 0.9999999 TRUE 4.08393e-06 ENSE00001635067_016 ENSE00001635067 016 16 24817476 24817645 + 51 78 41 G A 24817569 1403 94 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCATGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA 24806154 24806324 24806247 24806248 24806248 exon -36 0.5512821 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCATGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 491 287 0.9977231 0.9978497 0.9977864 0.85 0.85 0.926379 0.9841216 NA NA 0.07134416 0.01372811 0.85 0.9552503 NA 0.04253613 NA FALSE NA 1 3.133 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:24806248 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 missense_variant 3.257729 0.93766 0.76899 0.706548 0.9804047 0 0.9999999 TRUE 9.76038e-05 ENSE00001635067_027 ENSE00001635067 027 16 24817476 24817645 + 51 78 41 G C 24817626 1414 151 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCCCAATGCTGTCTTTGTGTTA 24806154 24806324 24806304 24806305 24806305 downstr_intron 22 1.55 ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCCCAATGCTGTCTTTGTGTTA ACACTTTGTAATGGTGTGATAGTAACAACCTTTTCGCTATCTTTCCTCTAGCGATTGTTAGCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAAGACCAGCAGGTAGAGCCCGCCCTGCAACTCGCAATGCTGTCTTTGTGTTA mutant NA NA NA NA NA 573 118 0.9922061 0.989699 0.9909526 0.85 0.85 0.926379 0.9841216 NA NA 0.06582716 0.005577383 0.85 0.9552503 NA 0.03570227 NA FALSE NA 0.009 0.977 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:24806305 TNRC6A HGNC Symbol protein_coding 217423 ENSG00000090905 ENSE00003531845 intron_variant -0.009891 0.25602 0.25696 0.099367 0.5097161 0.0950751 0.9999999 TRUE 2.45837e-05 ENSE00001642477_014 ENSE00001642477 014 18 47367700 47367869 - 35 90 45 C A 47367772 619 98 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCTCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841401 49841402 49841402 exon -38 0.5888889 AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCTCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 481 444 1 1 1 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.04932436 0.9992751 0.9724643 NA 0.02753567 NA FALSE NA 1 7.6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:49841402 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00001642477 missense_variant 8.08133 0.9944 0.98741 0.614807 0.9988098 0 5.423175e-10 FALSE 4.0623e-06 ENSE00001642477_032 ENSE00001642477 032 18 47367700 47367869 - 35 90 45 A T 47367838 637 32 AGATGGGAGCCACTTAGAGCTGAGGATGTCCATTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841467 49841468 49841468 upstr_intron -14 -0.2888889 AGATGGGAGCCACTTAGAGCTGAGGATGTCCATTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 17 22 1 0.95 0.975 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 -0.0006756416 0.9992751 0.9724643 NA 0.002535673 NA FALSE NA 0 -0.267 NA NA NA SCARNA17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:49841468 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00001642477 intron_variant -0.09989 0.23857 0.03511 0.065574 0.6049454 0.0531458 5.423175e-10 FALSE 4.06217e-06 ENSE00001642477_034 ENSE00001642477 034 18 47367700 47367869 - 35 90 45 G T 47367840 639 30 AGATGGGAGCCACTTAGAGCTGAGGATGTACTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT 49841329 49841499 49841469 49841470 49841470 upstr_intron -16 -0.3333333 AGATGGGAGCCACTTAGAGCTGAGGATGTACTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT AGATGGGAGCCACTTAGAGCTGAGGATGTCCTTTTCTTTTCACAGAAGCACAATGATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTGAAGCAGTACAGCGGGGATGAGGTGAGTGGGGAGCCAGGCACCCAGGAGGCATTCCT mutant NA NA NA NA NA 126 60 1 1 1 0.9985502 1 0.994253 0.9506756 NA NA 0.005746988 0.04932436 0.9992751 0.9724643 NA 0.02753567 NA FALSE NA 0.001 0.883 NA NA NA SCARNA17 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:49841470 MYO5B HGNC Symbol protein_coding 372280 ENSG00000167306 ENSE00001642477 intron_variant 0.26465 0.41228 0.14786 0.065574 0.642274 0.0531458 5.423175e-10 FALSE 0.000154381 ENSE00001645667_019 ENSE00001645667 019 3 49019037 49019206 + 56 69 45 A C 49019183 1121 147 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTCCTCTGTCCCGTTAGCCTCAAAGG 48981603 48981773 48981749 48981750 48981750 downstr_intron 22 1.5 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTCCTCTGTCCCGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 609 115 0.8004284 0.8 0.8002142 0.8431378 0.8500042 0.8214457 0.6314064 NA NA -0.02101732 0.1685936 0.846571 0.7264261 NA 0.07378812 NA FALSE NA 0 -2.962 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:48981750 ARIH2 HGNC Symbol protein_coding 67561 ENSG00000177479 ENSE00003503384 intron_variant -0.131529 0.13139 0.02549 0.099367 0.522542 0.0482677 0.9874125 TRUE 2.84567e-05 ENSE00001645667_021 ENSE00001645667 021 3 49019037 49019206 + 56 69 45 C T 49019192 1123 156 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCTGTTAGCCTCAAAGG 48981603 48981773 48981758 48981759 48981759 downstr_intron 31 1.704545 GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCTGTTAGCCTCAAAGG GATGCAGGTAGCTTAGAATCACAGACACAGGTTCCTTCTCTTCTCTCCTGTTGCAGTGTCGATACACCCTGCAATACACCTACCCATATGCATATTACATGGAGTCCGGACCCAGGAAGAAGCTGGTAAGGCAAAGCAATTTTTCTACTCTGTCCCGTTAGCCTCAAAGG mutant NA NA NA NA NA 29 86 0.8 0.8 0.8 0.8431378 0.8500042 0.8214457 0.6314064 NA NA -0.02144573 0.1685936 0.846571 0.7264261 NA 0.07357391 NA FALSE NA 0.004 1.442 NA NA NA RP13-131K19.1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 3:48981759 ARIH2 HGNC Symbol protein_coding 67561 ENSG00000177479 ENSE00003503384 intron_variant 0.169879 0.09765 8e-04 0.099367 0.4549306 0.0482677 0.9874125 TRUE 8.14823e-06 ENSE00001647173_007 ENSE00001647173 007 11 5718436 5718605 + 42 96 32 A G 5718476 250 41 CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGCGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCCGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697245 5697246 5697246 upstr_intron -2 -0.02380952 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACGGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant 394 46 0 0 0 NA NA NA NA NA 0.9900927 0.9779144 0.9114513 0.9543364 -0.9900927 -0.9779144 NA NA 0.9840036 0.9328938 -0.9840036 NA NA NA TRUE 0.998 4.627 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:5697246 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 splice_acceptor_variant 2.875545 0.91457 0.91484 0.283894 0.9694452 0.673191 3.156222e-12 FALSE 0.000119745 ENSE00001647173_019 ENSE00001647173 019 11 5718436 5718605 + 42 96 32 G T 5718565 262 130 CTAATTATCCCTTAGGAGGTGTCTCCTCCTGCCTTCCAGGAGGTTCTCTCTTGTCTGATGTCATCTTCCAGCTTCTCAGCCTCTTGATCCTCCTTTATCAGCCTCTGCAGGGCTACCTGCAGCTTTTCCTGTAAGAAATAAATTATACCAGAGTAAAGTTATGAGCTTTC 5697205 5697375 5697334 5697335 5697335 exon -9 0.9166667 GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCTCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG GAAAGCTCATAACTTTACTCTGGTATAATTTATTTCTTACAGGAAAAGCTGCAGGTAGCCCTGCAGAGGCTGATAAAGGAGGATCAAGAGGCTGAGAAGCTGGAAGATGACATCAGACAAGAGAGAACCGCCTGGAAGGCAGGAGGAGACACCTCCTAAGGGATAATTAG mutant NA NA NA NA NA 36 63 0.9533351 1 0.9766675 0.9900927 0.9779144 0.9114513 0.9543364 NA NA 0.04188382 0.04566357 0.9840036 0.9328938 NA 0.0437737 NA FALSE NA 0 -2.544 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:5697335 TRIM22 HGNC Symbol protein_coding 47400 ENSG00000132274 ENSE00001647173 missense_variant -2.563759 0.10499 0.00909 0.706548 0.5100866 0 3.156222e-12 FALSE 2.05219e-05 ENSE00001660309_010 ENSE00001660309 010 12 54799603 54799772 - 51 57 62 A C 54799696 1903 77 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAAGGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405911 54405912 54405912 exon 15 0.2631579 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAAGGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 488 354 0.8030766 0.8 0.8015383 0.85 0.7774072 0.8619929 0.7855596 NA NA -0.05891631 0.01444041 0.8137036 0.8237762 NA -0.02223795 NA FALSE NA 1 0.729 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:54405912 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 missense_variant 3.990153 0.92985 0.82221 0.67177 0.9970218 0 0.9997981 TRUE 6.90361e-05 ENSE00001660309_014 ENSE00001660309 014 12 54799603 54799772 - 51 57 62 T A 54799727 1907 46 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTTTCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC 54405818 54405988 54405942 54405943 54405943 upstr_intron -17 -0.2580645 TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTTTCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC TTCTTTAACCATGGGATATTCTGGGAGTCCAGGACCAATGGGCCTATCTCTTCATCTCCCAGGTCACCATCCTTAATGGCTCAGACATTCGATCCCTCTACAACTTCTCAGGGGAACAGGTAAGGATACCCCTCAACCCCACCCCAGCTTGGCCTCTGTCAACGAAGCCC mutant NA NA NA NA NA 216 16 1 0.95 0.975 0.85 0.7774072 0.8619929 0.7855596 NA NA 0.1380071 0.1644404 0.8137036 0.8237762 NA 0.1512238 NA FALSE NA 0 -1.948 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 12:54405943 ITGA5 HGNC Symbol protein_coding 24199 ENSG00000161638 ENSE00003522800 non_coding_transcript_exon_variant 2.291234 0.15767 0.04298 0.115753 0.864434 0.183973 0.9997981 TRUE 4.06141e-06 ENSE00001670105_008 ENSE00001670105 008 11 77614547 77614716 - 39 81 50 C G 77614649 2214 68 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTCTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT 77903500 77903670 77903602 77903603 77903603 exon 18 0.2222222 CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTCTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT CCAGTCTTTGTGACCTCGGTATTCTGTTCCCTCCTGATTTGTCTGCGTAGGCCTTGCAGGAAAAGTTGTGGAATGTAGCTGCCCCTTTGTATTTGAAGCAGAGTGATTTGGCCTCAGCAGCAGCGAAACAGGTAAGCTTATTCAGACCTTCCCTTCAAATAGGTCTCTGT mutant NA NA NA NA NA 1589 43 0.9996109 1 0.9998054 0.9929816 0.9661661 0.9967339 0.9942603 NA NA 0.002876953 0.005739675 0.9795738 0.9954971 NA 0.004308314 NA FALSE NA 0.998 0.36 NA NA NA INTS4 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:77903603 INTS4 HGNC Symbol protein_coding 115958 ENSG00000149262 ENSE00003580029 missense_variant 3.172885 0.96123 0.76683 0.706548 0.99806 0 0.6530713 FALSE 1.63031e-05 ENSE00001672550_033 ENSE00001672550 033 14 100759593 100759762 - 38 84 48 A C 100759738 1584 25 GTGCTCTGGTCCTGCCTGCCTGCCGCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG 100293255 100293425 100293400 100293401 100293401 upstr_intron -24 -0.4791667 GTGCTCTGGTCCTGCCTGCCTGCCGCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG GTGCTCTGGTCCTGCCTGCCTGCCTCTCACTGGACCCTCTCCTTCCAGGTACGGCTTCAGGTCCAGAGCGTGGAGAAGCCTCAGTACCGCGGGACGTTGCACTGCTTCAAGTCCATCATCAAGCAAGAGAGCGTGAGTGGCCTGGGCTGGTGGGGCTCGGGAGGCACAGG mutant NA NA NA NA NA 370 38 0.9944897 1 0.9972448 0.999551 0.9930855 0.9955837 0.9952395 NA NA -0.001093989 0.004760544 0.9963183 0.9954116 NA 0.001833278 NA FALSE NA 0 0.143 NA NA NA SLC25A29 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:100293401 SLC25A29 HGNC Symbol protein_coding 15436 ENSG00000197119 ENSE00003653908 5_prime_UTR_variant 0.032132 0.16038 0.02906 0.184171 0.7276101 0.0754327 0.006060973 FALSE 0.295391 ENSE00001674129_012 ENSE00001674129 012 10 98994944 98995113 - 30 99 41 G A 98994999 2073 115 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTTGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT 97235186 97235356 97235241 97235242 97235242 exon -26 0.7474747 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTTGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT mutant 155 192 0.8464556 0.85 0.8482278 NA NA NA NA NA NA NA 0.9979948 0.9964635 NA NA NA NA NA 0.9972291 NA NA NA NA NA 1 5.965 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:97235242 ARHGAP19 HGNC Symbol protein_coding 70500 ENSG00000213390 ENSE00003551419 missense_variant 6.178835 0.95734 0.90713 0.732398 0.9990151 0 1.63036e-07 FALSE 3.25031e-05 ENSE00001674129_018 ENSE00001674129 018 10 98994944 98995113 - 30 99 41 C T 98995038 2079 76 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCAAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT 97235186 97235356 97235280 97235281 97235281 exon 35 0.3535354 TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCAAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT TGGGAAAGTATTTATAAAATGTTCTCCATGTTTTCTTTTAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTACAAAAGAGGGCTCGTTCGCGCTCCTTCAGTGGGCTTATTAAGGTAGGTATGCTGGGCTGTCGTTTTCAGCAT mutant NA NA NA NA NA 161 478 0.9676853 0.9713504 0.9695178 NA NA 0.9979948 0.9964635 NA NA -0.03030947 -0.02511316 NA 0.9972291 NA -0.02771131 NA FALSE NA 0.001 0.227 NA NA NA ARHGAP19 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:97235281 ARHGAP19 HGNC Symbol protein_coding 70500 ENSG00000213390 ENSE00003551419 missense_variant 2.67167 0.30596 0.07057 0.706298 0.9017871 0 1.63036e-07 FALSE 1.62518e-05 ENSE00001700147_002 ENSE00001700147 002 15 52487535 52487704 - 39 81 50 G C 52487552 953 153 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCGTTTTAATTTTACTTCCT 52195337 52195507 52195354 52195355 52195355 downstr_intron 22 1.578947 CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCGTTTTAATTTTACTTCCT CAGAGTTATTATTTTGCATGGTCTAACACCATGTTATGTACCGTTTGCAGATCATAAAGATCCTTAATTCATACACACCTATAGATGACTTTGAGAAGAGAGTGACTCCATCCTTTGTTCGCAAAGTACAGGTGAGATTCTTAAGGATGTGCCTTTTAATTTTACTTCCT mutant NA NA NA NA NA 20 129 1 0.9912879 0.995644 0.9917511 0.981206 0.9927415 0.8232852 NA NA 0.007258465 0.1680028 0.9864786 0.9080134 NA 0.08763061 NA FALSE NA 0 0.196 NA NA NA GNB5 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:52195355 MYO5C HGNC Symbol protein_coding 103476 ENSG00000128833 ENSE00003618176 intron_variant -0.086916 0.28938 0.13512 0.088506 0.4983622 0.0848097 4.348722e-18 FALSE 4.24661e-06 ENSE00001716901_001 ENSE00001716901 001 16 3562341 3562510 + 42 96 32 C T 3562380 183 40 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCTAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG 3512340 3512510 3512379 3512380 3512380 upstr_intron -3 -0.04761905 CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCTAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG CATCTGTTGCTGAGGTTTCTGTTTTTGTTATTTTCCTTCCAGATTGCAGATTTGAAGGCAGCCAGGCAGCTTGCGTCTGAAATCACCTCCAAAGGAGCATCTCTGTATGACTTGCTCGGCATGGAAGTAGAGTTGAGGGTAAGCATTCCAGTACTTCCTTAACCATGCAG mutant NA NA NA NA NA 241 182 0.8422164 1 0.9211082 0.9876933 0.9784447 0.9913135 0.9858482 NA NA -0.1490971 0.01415179 0.983069 0.9885808 NA -0.06747266 NA FALSE NA 0.801 0.664 NA NA NA LA16c-306E5.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:3512380 CLUAP1 HGNC Symbol protein_coding 38124 ENSG00000103351 ENSE00003593408 splice_region_variant 0.39682 0.95203 0.64749 0.106106 0.5081399 0.290527 0.0002195405 FALSE 0.00178276 ENSE00001719634_009 ENSE00001719634 009 19 17120042 17120211 - 71 18 81 C G 17120089 1543 123 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCCGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT 17009231 17009401 17009278 17009279 17009279 downstr_intron 24 1.342857 ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCCGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT ACCGAGGCCATGCATGAGCATGTTGAAAGGGTTTGGGGTTTGCTGGAAGATTTGCTCACTGCATCTGTGTCTTCATTACAGCTGGAAGCCTACATCCTGGTGAGTGGCCTCTGTCCTTCCTCGGCTTGGACTTGGGGCCCGGGTAGCCCACCTTCTGCAAGATCTGGTCT mutant NA NA NA NA NA 362 515 0.9817253 0.9996928 0.9907091 0.9954676 0.9930163 0.7678775 0.8692615 NA NA 0.2138478 0.1304313 0.994242 0.8185695 NA 0.1721396 NA FALSE NA 0 -3.034 NA NA NA CPAMD8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:17009279 CPAMD8 HGNC Symbol protein_coding 133868 ENSG00000160111 ENSE00001719634 non_coding_transcript_exon_variant 0.271631 0.09238 0.00364 0.053691 0.5711065 0.0533499 2.018015e-14 FALSE 4.06167e-06 ENSE00001734773_002 ENSE00001734773 002 10 102268732 102268901 - 32 96 42 G C 102268751 2337 151 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCGCCACTACCCAACCCTGGAG 100508974 100509144 100508993 100508994 100508994 downstr_intron 13 1.419355 TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCGCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 136 596 0.9892355 1 0.9946178 NA NA 0.9072387 0.999501 NA NA 0.08199681 0.0004990307 NA 0.9533698 NA 0.04124792 NA FALSE NA 0.001 0.008 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:100508994 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 intron_variant -0.388119 0.17449 0.24223 0 0.6055185 0.0774627 1.300616e-24 FALSE 4.87864e-05 ENSE00001734773_024 ENSE00001734773 024 10 102268732 102268901 - 32 96 42 A G 102268885 2359 17 TTCCTAGGGTGGTATGCCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG 100508974 100509144 100509127 100509128 100509128 upstr_intron -26 -0.5952381 TTCCTAGGGTGGTATGCCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG TTCCTAGGGTGGTATGTCTCCAAACACTTTTTATTCATACAGGGCAACCTCCTGGCTTCAGGGGCCAGCGATTCTGAAATCTTCATTTGGGATCTGAATAACTTGAATGTGCCAATGACCCTGGGATCCAAGTCACAGGTGAGCAGCACCCCCACTACCCAACCCTGGAG mutant NA NA NA NA NA 446 50 0.9975861 1 0.998793 NA NA 0.9072387 0.999501 NA NA 0.09034734 0.0004990307 NA 0.9533698 NA 0.04542318 NA FALSE NA 0.02 0.22 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:100509128 SEC31B HGNC Symbol protein_coding 33222 ENSG00000075826 ENSE00003497222 intron_variant 0.168737 0.29497 0.13436 0.055872 0.6641654 0.0602045 1.300616e-24 FALSE 3.26376e-05 ENSE00001735670_020 ENSE00001735670 020 16 20648654 20648823 - 39 81 50 C T 20648763 1268 61 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTATGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT 20637331 20637501 20637440 20637441 20637441 exon 11 0.1358025 ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTATGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT ATCAGCCTGGCCTCTCTGATCAACCCAAATCTTCTTTCTTTTGTGAACAGGGACTAATTTGTGCCACCTACTGGGGAATGAAGATCAAGCCGGGTTTCATGGGGAAGGCCACTCCACCCTACGACGTCCAGGTCTGGTCCTAAGGGCATTGGCAGGGAGCAGTTAGGGCT mutant 51 36 0.8905208 0.85 0.8702604 37 44 0.9610438 0.95 0.9555219 0.9582316 0.9336565 0.9473321 0.9824969 -0.06771078 -0.0836565 0.01371168 -0.03249693 0.945944 0.9649145 -0.07568364 -0.009392626 0.06629101 FALSE FALSE 0.004 0.994 NA NA NA ACSM1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:20637441 ACSM1 HGNC Symbol protein_coding 75653 ENSG00000166743 ENSE00003592835 missense_variant 4.658745 0.39113 0.18718 0.65861 0.9780405 0 4.367484e-09 FALSE 4.06339e-06 ENSE00001735786_010 ENSE00001735786 010 9 4567628 4567797 + 41 99 30 G C 4567682 128 55 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCCTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567681 4567682 4567682 exon 14 0.1414141 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCCTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 95 1712 1 0.9995989 0.9997994 NA NA 0.9793559 0.9906247 NA NA 0.02064414 0.008974199 NA 0.9849903 NA 0.01480917 NA FALSE NA 1 7.161 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:4567682 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 missense_variant 3.935735 0.94749 0.96137 0.706298 0.9912184 0 0.001271167 FALSE 4.07784e-06 ENSE00001735786_013 ENSE00001735786 013 9 4567628 4567797 + 41 99 30 C T 4567704 131 77 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGTGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC 4567627 4567797 4567703 4567704 4567704 exon 36 0.3636364 CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGTGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC CTTTTTTTGTTTGCTTGTCCTTGATTTTCTCCAACATGCAGTACAAAACTAAGCGTGAAGAAGTGAAGCCTCCCAGCGATCCAGAGATGAACATGACAGAAGAGTCCTTCACAGCTGTCATGACAACTGCAATTTCCAAGGTACCATTCTTATTTCCTGTTCCTCTTCCC mutant NA NA NA NA NA 906 634 0.9986752 0.8600501 0.9293627 NA NA 0.9793559 0.9906247 NA NA 0.01931937 -0.1305746 NA 0.9849903 NA -0.0556276 NA FALSE NA 0 -1.121 NA NA NA SLC1A1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:4567704 SLC1A1 HGNC Symbol protein_coding 97025 ENSG00000106688 ENSE00001735786 synonymous_variant 0.891546 0.16694 0.01115 0.706298 0.8473872 0 0.001271167 FALSE 0.000109952 ENSE00001737387_014 ENSE00001737387 014 10 18824988 18825157 + 42 96 32 G A 18825116 472 129 ACTGGATTATGCTGTATATAGAGATAACTTACTGGAGGACATTGAGCCAGTTTATCAGCTGCTACCATCTGGACGTTGAGGTGTTTAGCTTGAGATTTCCCTCGAGATTTTATTAACCTTTGTAAAACCTGTAAAAGATAATGAGTTTTTAACAGAGTAATAACTACATC 18536058 18536228 18536186 18536187 18536187 exon -10 0.90625 GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAATGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT GATGTAGTTATTACTCTGTTAAAAACTCATTATCTTTTACAGGTTTTACAAAGGTTAATAAAATCTCGAGGGAAATCTCAAGCTAAACACCTCAACGTCCAGATGGTAGCAGCTGATAAACTGGCTCAGTGTCCTCCAGTAAGTTATCTCTATATACAGCATAATCCAGT mutant NA NA NA NA NA 435 551 0.8933424 0.9997129 0.9465276 1 0.9977024 0.9891743 0.9703498 NA NA -0.09583182 0.02936302 0.9988512 0.9797621 NA -0.0332344 NA FALSE NA 1 2.263 NA NA NA CACNB2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:18536187 CACNB2 HGNC Symbol protein_coding 402880 ENSG00000165995 ENSE00001737387 synonymous_variant 0.650336 0.98969 0.93914 0.615465 0.8593002 0 0.001820338 FALSE 0.000345284 ENSE00001744245_024 ENSE00001744245 024 18 61327983 61328152 - 51 57 62 T C 61328103 844 50 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCGTGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG 63660748 63660918 63660868 63660869 63660869 upstr_intron -13 -0.1935484 ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCGTGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG ACCACTGACTTAAACAGATCTTTTGAGTAAAGTTTTCTTGTCCCGCTTCATGTCTCTTCCAGGTTCTTCACTTTGATCAAGTCACAGAGAACACCACAGGAAAAGCTGCAACATATCATGTGAGTCACAGAGCACTATGGTTCAGCTTTAGATCCCCGAACAGGTCATAG mutant NA NA NA NA NA 249 169 1 0.9972279 0.998614 0.9914732 0.9337557 0.9310549 0.9912846 NA NA 0.06894512 0.005943291 0.9626145 0.9611698 NA 0.03744421 NA FALSE NA 0 -0.025 NA NA NA SERPINB11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:63660869 SERPINB3 HGNC Symbol protein_coding 6766 ENSG00000057149 ENSE00001744245 intron_variant -0.193209 0.15597 0.04149 0.053691 0.4486446 0.110012 8.689134e-14 FALSE 2.4459e-05 ENSE00001747304_012 ENSE00001747304 012 18 21946814 21946983 - 42 75 53 G A 21946879 348 105 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATTGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366914 24366915 24366915 exon -24 0.6933333 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATTGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant NA NA NA NA NA 294 195 0.005327111 0.05692677 0.03112694 0.7867578 0.8408531 0.8599607 0.8968376 NA NA -0.8546336 -0.8399108 0.8138055 0.8783991 NA -0.8472722 NA TRUE NA 1 5.496 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:24366915 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 stop_gained 11.28144 0.97969 0.97213 0.706548 0.9980584 0 4.106793e-05 FALSE 4.09252e-06 ENSE00001747304_017 ENSE00001747304 017 18 21946814 21946983 - 42 75 53 G A 21946890 353 94 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACATGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366925 24366926 24366926 exon -35 0.5466667 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACATGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant NA NA NA NA NA 750 1371 0.2366427 0.1276429 0.1821428 0.7867578 0.8408531 0.8599607 0.8968376 NA NA -0.623318 -0.7691947 0.8138055 0.8783991 NA -0.6962563 NA TRUE NA 1 4.938 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:24366926 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 missense_variant 6.382142 0.98783 0.95531 0.706548 0.9992259 0 4.106793e-05 FALSE 6.54081e-05 ENSE00001747304_027 ENSE00001747304 027 18 21946814 21946983 - 42 75 53 C T 21946944 363 40 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGATCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT 24366849 24367019 24366979 24366980 24366980 upstr_intron -14 -0.245283 ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGATCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT ATGATTTTCACCATTGTATATTTCTTGGTATTTAAAGTGGTCATGTTTACTAGGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGTGAAAATCATTCTATGTTCAATGTTTGTAAGTGAGGTATTT mutant 23 89 0.85 0.9374024 0.8937012 1003 164 0.9912732 0.9451483 0.9682107 0.7867578 0.8408531 0.8599607 0.8968376 0.06324223 0.09654924 0.1313126 0.04831065 0.8138055 0.8783991 0.07989573 0.08981161 0.009915873 FALSE FALSE 0.998 1.883 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 18:24366980 OSBPL1A HGNC Symbol protein_coding 235836 ENSG00000141447 ENSE00003679664 intron_variant 0.756351 0.70429 0.44017 0.156188 0.8596621 0.214482 4.106793e-05 FALSE 8.47149e-06 ENSE00001751163_007 ENSE00001751163 007 14 64565412 64565581 + 53 75 42 T A 64565453 523 42 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGAGCCTCTTCTGTTCAACTGAAAGGCACTGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098734 64098735 64098735 upstr_intron -12 -0.2075472 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCAGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 36 39 0.170065 0.05093628 0.1105006 1029 222 0.003226344 0 0.001613172 0.8472126 0.817894 0.8038316 0.633998 -0.6771476 -0.7669577 -0.8006053 -0.633998 0.8325533 0.7189148 -0.7220527 -0.7173016 0.004751058 TRUE TRUE 0.657 0.417 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64098735 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 non_coding_transcript_exon_variant 2.405836 0.96202 0.49836 0.163922 0.8066357 0.197235 1.853352e-11 FALSE 1.62823e-05 ENSE00001751163_014 ENSE00001751163 014 14 64565412 64565581 + 53 75 42 T C 64565480 530 69 TCTGGTTCTAACAAACTTTAACAAGAAAATCATTTCCCTTACATCGCTCTTCACGGAACTTTCTTCCACCTCTTCCTCGACTGCTGCCAGGTAAGACATGGGGCCTCTTCTGTTCAACTGAAAGGCACAGCACAAGAATACCTGCAGTCTGCTTGCCAGTCAACATCACC 64098693 64098863 64098761 64098762 64098762 exon 16 0.2133333 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCCCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant 22 37 0.85 0.85 0.85 NA NA NA NA NA 0.8472126 0.817894 0.8038316 0.633998 0.002787386 0.032106 NA NA 0.8325533 0.7189148 0.01744669 NA NA NA FALSE 0.852 0.687 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64098762 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant 4.544552 0.96168 0.60703 0.732398 0.9798227 0 1.853352e-11 FALSE 4.06405e-05 ENSE00001751163_025 ENSE00001751163 025 14 64565412 64565581 + 53 75 42 G T 64565528 541 117 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCTTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA 64098693 64098863 64098809 64098810 64098810 exon -12 0.8533333 GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCTTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA GGTGATGTTGACTGGCAAGCAGACTGCAGGTATTCTTGTGCTGTGCCTTTCAGTTGAACAGAAGAGGCTCCATGTCTTACCTGGCAGCAGTCGAGGAAGAGGTGGAAGAAAGTTCCGTGAAGAGCGATGTAAGGGAAATGATTTTCTTGTTAAAGTTTGTTAGAACCAGA mutant NA NA NA NA NA 443 258 0.2265138 0.08809232 0.1573031 0.8472126 0.817894 0.8038316 0.633998 NA NA -0.5773178 -0.5459057 0.8325533 0.7189148 NA -0.5616117 NA TRUE NA 0.002 -0.429 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 14:64098810 SYNE2 HGNC Symbol protein_coding 373450 ENSG00000054654 ENSE00003582628 missense_variant -1.370355 0.28067 0.01648 0.732398 0.6896711 0 1.853352e-11 FALSE 9.75293e-05 ENSE00001760293_009 ENSE00001760293 009 9 131719181 131719350 + 50 81 39 G T 131719257 2847 77 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCATTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128956977 128956978 128956978 exon 27 0.3333333 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCATTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 38 11 1 1 1 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.01150485 0.0349063 0.997177 0.9767944 NA 0.02320557 NA FALSE NA 1 5.259 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:128956978 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 missense_variant 4.634105 0.98598 0.97862 0.706548 0.9967736 0 0.9870793 TRUE 4.06898e-06 ENSE00001760293_017 ENSE00001760293 017 9 131719181 131719350 + 50 81 39 G A 131719298 2855 118 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCAGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC 128956901 128957071 128957018 128957019 128957019 exon -14 0.8395062 CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCAGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC CCTGTGTGCGATTTCTGAGCTGTTCCTTACTTAAAATCTCTGTGTTTCAGGGTCTTGATGAAGAACAGAGTGTGCAGTTACTCCAGTGTTACCTGCAAGAGGACTACAGGGGTACTCGGGACTCAGTAAAGGTTTGTGGTTTATGTCAGCTCCTTTCTTCTGCCTTTATC mutant NA NA NA NA NA 85 652 1 0.9969665 0.9984832 0.9983434 0.9960105 0.9884951 0.9650937 NA NA 0.01150485 0.03187279 0.997177 0.9767944 NA 0.02168882 NA FALSE NA 1 6.296 NA NA NA NUP188 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:128957019 NUP188 HGNC Symbol protein_coding 59397 ENSG00000095319 ENSE00003637202 missense_variant 6.088895 0.98528 0.97706 0.706548 0.9993136 0 0.9870793 TRUE 1.22558e-05 ENSE00001771057_005 ENSE00001771057 005 10 73270645 73270814 + 66 48 56 C T 73270672 1618 28 AGGGCCCAGGACCCAGGACCTCAGCACTGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510914 71510915 71510915 upstr_intron -39 -0.5757576 AGGGCCCAGGACCCAGGACCTCAGCACTGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 94 22 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 0 -1.682 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:71510915 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant -0.315591 0.10537 0.02078 0.055872 0.5915823 0.111558 0.05069296 FALSE 1.21962e-05 ENSE00001771057_008 ENSE00001771057 008 10 73270645 73270814 + 66 48 56 C A 73270684 1621 40 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCACCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC 71510887 71511057 71510926 71510927 71510927 upstr_intron -27 -0.3939394 AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCACCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC AGGGCCCAGGACCCAGGACCTCAGCACCGCCTAACTGCCCCCCTCCCTCTCTCACTTTTCTTTCAGACCAAGTCAGAGTTCACCGTGGAGTTCTCTGTCAGCGACCACCAGGGGGTGAGTGTTCCCTGGGGCCCTGGAGGCATGTTCCTGGGGTCACAGGATTTCTGGAC mutant NA NA NA NA NA 114 186 1 1 1 NA NA 0.9454749 0.8975113 NA NA 0.0545251 0.1024887 NA 0.9214931 NA 0.07850689 NA FALSE NA 0 -0.215 NA NA NA CDH23 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:71510927 CDH23 HGNC Symbol protein_coding 419013 ENSG00000107736 ENSE00003384567 intron_variant 0.377034 0.24206 0.09107 0.055872 0.6957247 0.192558 0.05069296 FALSE 0.0138717 ENSE00001775517_008 ENSE00001775517 008 22 39137458 39137627 - 41 78 51 G A 39137485 929 143 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGTGGCACTCAGGGCCTGTGACTGGGTCCT 38741452 38741622 38741479 38741480 38741480 downstr_intron 14 1.35 TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGTGGCACTCAGGGCCTGTGACTGGGTCCT TCCCTATAAGCATGGCTCTGTCCAACCTGTCCTCTCACTCCCGTCTCACAGGAAGAACTGTCTGCCCTGAGAGCAGAGCATCAGCAAGACTCAGAAGACCTCTTCAAGAAGATCGTCCGGGCCTCCCAGGTCAGCGGGCTTGCGGCACTCAGGGCCTGTGACTGGGTCCT mutant NA NA NA NA NA 364 99 1 0.9983991 0.9991996 0.9987633 0.9927101 0.9664572 0.7976902 NA NA 0.03354279 0.2007089 0.9957367 0.8820737 NA 0.1171258 NA FALSE NA 0 0.064 NA NA NA SUN2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 22:38741480 SUN2 HGNC Symbol protein_coding 59418 ENSG00000100242 ENSE00003553989 intron_variant 0.316968 0.13261 0.19525 0.256867 0.7929975 0.104432 2.408332e-07 FALSE 4.07256e-05 ENSE00002129540_016 ENSE00002129540 016 15 42701450 42701619 + 51 78 41 G C 42701570 725 121 AAGGAAGCACCTGTGGGCGTCCTGGGCTTGGAGGTACTCACATCTCCTGGTATCTGCTTGAAAATGTTCCGGAATTGTTGCTGTTCCTCACTTTCCTGATCAGAGCTGCCAGGCTGTGGCTGTGGAGGCACAAAGGAAAACTGGTTCACAGGGGTCAGAGGTGCACAGGC 42409251 42409421 42409371 42409372 42409372 exon -9 0.8974359 GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATACCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT GCCTGTGCACCTCTGACCCCTGTGAACCAGTTTTCCTTTGTGCCTCCACAGCCACAGCCTGGCAGCTCTGATCAGGAAAGTGAGGAACAGCAACAATTCCGGAACATTTTCAAGCAGATAGCAGGAGATGTGAGTACCTCCAAGCCCAGGACGCCCACAGGTGCTTCCTT mutant NA NA NA NA NA 529 393 0.9981969 0.9985341 0.9983655 0.9748092 0.989583 0.9449153 0.8829071 NA NA 0.0532816 0.115627 0.9821961 0.9139112 NA 0.08445431 NA FALSE NA 1 9.603 NA NA NA CAPN3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:42409372 CAPN3 HGNC Symbol protein_coding 52818 ENSG00000092529 ENSE00003460877 missense_variant 6.757723 0.97457 0.98842 0.615465 0.9982697 0 9.73741e-09 FALSE NA ENSE00002162551_008 ENSE00002162551 008 11 44939470 44939639 + 53 75 42 G T 44939507 1095 38 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTTTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC 44917918 44918088 44917955 44917956 44917956 upstr_intron -16 -0.2830189 GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTTTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC GCCCCATCCCCTGCCTGCCCTCTGGGCTCACAAGGCTGTTCCTCTCCCTGCAGTTCTTCCTGTTCATCCTGATCATCTTCCTGGCAGAGCTCTCAGCAGCCATCCTGGCCTTCATCTTCAGGGAAAATGTACGTATCAGGCCCCAAGCTTTCCTGCCTCCTGCTATCAGC mutant NA NA NA NA NA 305 31 0.8164007 1 0.9082004 0.976143 0.9646678 0.9735502 0.8824622 NA NA -0.1571494 0.1175378 0.9704054 0.9280062 NA -0.01980582 NA FALSE NA 0.355 0.672 NA NA NA TSPAN18 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 11:44917956 TSPAN18 HGNC Symbol protein_coding 205956 ENSG00000157570 ENSE00003565211 non_coding_transcript_exon_variant -0.174335 0.16766 0.0276 0.162113 0.6557668 0.216781 0.1618604 FALSE 4.06306e-06 ENSE00002282659_004 ENSE00002282659 004 16 89805257 89805426 - 33 93 44 C G 89805284 3465 143 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACCTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738875 89738876 89738876 downstr_intron 6 1.1875 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACCTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 87 122 1 0.9839098 0.9919549 NA NA 0.957122 0.9955168 NA NA 0.04287801 -0.01160708 NA 0.9763194 NA 0.01563546 NA FALSE NA 0 -3.159 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:89738876 ZNF276 HGNC Symbol protein_coding 20503 NA ENSE00003672662 missense_variant -0.189248 0.18352 0.29433 0.67177 0.4769423 0 0.0002572748 FALSE 2.43661e-05 ENSE00002282659_006 ENSE00002282659 006 16 89805257 89805426 - 33 93 44 G A 89805285 3467 142 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAATGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738876 89738877 89738877 downstr_intron 5 1.15625 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAATGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 575 729 1 0.9999478 0.9999739 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004430942 NA 0.9763194 NA 0.02365447 NA FALSE NA 0.003 -0.233 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:89738877 ZNF276 HGNC Symbol protein_coding 20503 NA ENSE00003672662 splice_region_variant 0.218019 0.21689 0.16642 0.67177 0.6882069 0 0.0002572748 FALSE 2.43665e-05 ENSE00002282659_012 ENSE00002282659 012 16 89805257 89805426 - 33 93 44 G C 89805299 3473 128 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACAGGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738890 89738891 89738891 exon -10 0.9032258 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACAGGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 453 89 1 1 1 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004483163 NA 0.9763194 NA 0.02368058 NA FALSE NA 0 -0.243 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:89738891 ZNF276 HGNC Symbol protein_coding 20503 NA ENSE00003672662 missense_variant 0.016635 0.32311 0.52966 0.67177 0.909928 0 0.0002572748 FALSE 4.06075e-06 ENSE00002282659_030 ENSE00002282659 030 16 89805257 89805426 - 33 93 44 G A 89805349 3491 78 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTTTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738940 89738941 89738941 exon 34 0.3655914 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTTTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 123 47 1 1 1 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004483163 NA 0.9763194 NA 0.02368058 NA FALSE NA 0 -0.211 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:89738941 ZNF276 HGNC Symbol protein_coding 20503 NA ENSE00003672662 missense_variant 0.908686 0.26429 0.33485 0.67177 0.9346691 0 0.0002572748 FALSE 4.06055e-06 ENSE00002282659_038 ENSE00002282659 038 16 89805257 89805426 - 33 93 44 G A 89805374 3499 53 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCTGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738965 89738966 89738966 exon 9 0.09677419 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCTGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 81 539 1 0.9931906 0.9965953 NA NA 0.957122 0.9955168 NA NA 0.04287801 -0.002326219 NA 0.9763194 NA 0.02027589 NA FALSE NA 0 -1.375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:89738966 ZNF276 HGNC Symbol protein_coding 20503 NA ENSE00003672662 missense_variant 0.625281 0.15914 0.0973 0.67177 0.9058371 0 0.0002572748 FALSE 1.62433e-05 ENSE00002282659_041 ENSE00002282659 041 16 89805257 89805426 - 33 93 44 C G 89805382 3502 45 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGCGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG 89738848 89739018 89738973 89738974 89738974 exon 1 0.01075269 TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGCGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG TCTGTATGTCTTCTAACCTGTGAGTTTGCCTGTTTTCTCTCTAGGGCAACCCCGTGGAACTGATAACAAAAGCTCGTCTTTTTCTGCTGCAGTTAATACCTCGGTGCCCGAAAAAGAGCTTCTCACACGTGGCAGAGGTAACGTCAAGATGCCCACCTTGGGCCATGTGG mutant NA NA NA NA NA 156 125 1 1 1 NA NA 0.957122 0.9955168 NA NA 0.04287801 0.004483163 NA 0.9763194 NA 0.02368058 NA FALSE NA 0.953 0.954 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 16:89738974 ZNF276 HGNC Symbol protein_coding 20503 NA ENSE00003672662 missense_variant 2.185301 0.94718 0.84389 0.67177 0.9984113 0 0.0002572748 FALSE 4.06078e-06 ENSE00002311500_009 ENSE00002311500 009 19 49860461 49860630 - 48 63 59 C A 49860504 2939 127 CACCCCCAGTCTCTGTCCCCCTCTCAGGATGTCTGCATTGGTCACTACCTTCAACTTGGACTGGATTTCCCTTGATTTCCTTCGGGCCAAAACCTGGATGTGACTAGAAACCTGGAAGGATCAACGGAGAAGCAGATTCAGGCCACAGCCACCGCCCCTGTGTTCACTAC 49357203 49357373 49357246 49357247 49357247 downstr_intron 5 1.106383 GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGTGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG GTAGTGAACACAGGGGCGGTGGCTGTGGCCTGAATCTGCTTCTCCGTTGATCCTTCCAGGTTTCTAGTCACATCCAGGTTTTGGCCCGAAGGAAATCAAGGGAAATCCAGTCCAAGTTGAAGGTAGGGACCAATGCAGACATCCTGAGAGGGGGACAGAGACTGGGGGTG mutant NA NA NA NA NA 1293 263 0.005867385 0 0.002933692 0.847275 0.8388698 0.7926735 0.595461 NA NA -0.7868062 -0.595461 0.8430724 0.6940673 NA -0.6911336 NA TRUE NA 0.002 1.197 NA NA NA TEAD2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 19:49357247 TEAD2 HGNC Symbol protein_coding 21862 ENSG00000074219 ENSE00003535692 splice_region_variant 1.236727 0.25453 0.26639 0.069865 0.6478609 0.381274 0.002047317 FALSE 8.13206e-06 ENSE00002325141_012 ENSE00002325141 012 2 135602735 135602904 + 68 45 57 C A 135602838 2781 104 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACAACACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG 134845164 134845334 134845267 134845268 134845268 exon -10 0.8 TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACAACACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG TTAGCATGCCCCTTGATTGCAGCCTGGTCTTTGCTCTTTGACTCTAACTGTGCTTCTCCCCACTGCAGAGGTTTGGCTACGGAGGCTGGGTGCAGCTCCAACACCACAGCAAGGTGAGTTTCTTCCAAAGTATGAACATCAGTAGCACTCAGGGAGAGCTGAGCCATGGG mutant NA NA NA NA NA 1194 454 0.9455375 0.9956509 0.9705942 0.9983962 0.9987467 0.9981375 0.9477641 NA NA -0.05259999 0.04788675 0.9985715 0.9729508 NA -0.00235662 NA FALSE NA 0.977 0.303 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:134845268 ACMSD HGNC Symbol protein_coding 63487 ENSG00000153086 ENSE00003557487 missense_variant 2.168692 0.95305 0.64097 0.497415 0.9008167 0 1.988715e-07 FALSE 4.0661e-06 ENSE00002327510_019 ENSE00002327510 019 5 147021220 147021389 - 51 57 62 T A 147021355 1624 35 ATCTCTCTGGCTGTTTGTGGCAAATGCCTGATAACTTTGATTTCTTATTACCTTAATTGGCTTGGAACTTCTTCTATGCTTTCTTCTACGGATGAGCTTTTCTCGGTCCTGGAAAACAGATGAAAGATTTTCAGAACCAGAATTGGTAGATGTTTCTTTATAGTTTTTTG 147641656 147641826 147641791 147641792 147641792 upstr_intron -28 -0.4354839 CAAAAAACTATAAAGAAACATCTACCAATTCTGGTTCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT CAAAAAACTATAAAGAAACATCTACCAATTCTGGATCTGAAAATCTTTCATCTGTTTTCCAGGACCGAGAAAAGCTCATCCGTAGAAGAAAGCATAGAAGAAGTTCCAAGCCAATTAAGGTAATAAGAAATCAAAGTTATCAGGCATTTGCCACAAACAGCCAGAGAGAT mutant NA NA NA NA NA 606 204 0.9911375 0.9998132 0.9954753 NA NA 0.9547357 1 NA NA 0.03640173 -0.0001867709 NA 0.9773679 NA 0.01810748 NA FALSE NA 0 -0.365 NA NA NA JAKMIP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:147641792 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003498378 intron_variant 0.421391 0.14148 0.04174 0.106106 0.5730709 0.0673029 0.9999365 TRUE 8.15474e-06 ENSE00002330523_002 ENSE00002330523 002 5 96097937 96098106 + 41 99 30 A C 96097956 839 20 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTAGTAGTAACATGTTGTATATA 96762232 96762402 96762251 96762252 96762252 upstr_intron -22 -0.5121951 TATATACAACATGTTACTACTAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 880 101 0.0005561158 0.006406834 0.003481475 NA NA 0.9765241 0.9807461 NA NA -0.975968 -0.9743393 NA 0.9786351 NA -0.9751537 NA TRUE NA 0.001 0.779 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:96762252 ERAP1 HGNC Symbol protein_coding 47290 NA ENSE00003584245 3_prime_UTR_variant 0.784026 0.19957 0.1385 0.322412 0.8584873 0.0828773 9.990095e-18 FALSE 4.38032e-06 ENSE00002330523_026 ENSE00002330523 026 5 96097937 96098106 + 41 99 30 G C 96098066 863 130 TTTATCTCCCAAATAAGATGTGCTGCTTACCGAGGTATCAGGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762361 96762362 96762362 exon -11 0.8989899 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCCTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 720 66 0.8353068 0.8021888 0.8187478 NA NA 0.9765241 0.9807461 NA NA -0.1412174 -0.1785573 NA 0.9786351 NA -0.1598873 NA FALSE NA 0.001 0.375 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:96762362 ERAP1 HGNC Symbol protein_coding 47290 NA ENSE00003584245 missense_variant 1.002404 0.49543 0.00195 0.732398 0.7473263 0 9.990095e-18 FALSE 6.49987e-05 ENSE00002330523_030 ENSE00002330523 030 5 96097937 96098106 + 41 99 30 C G 96098075 867 139 TTTATCTCCCAAATAAGATGTGCTGCTTACCCAGGTATCACGGGGTGGGGCTCCAGCTTGGGTCGTTGAAGCTGGGGTTTGGGAAACCACTTCAGAGATGGCAGCAGCAAGTTTAGCATCTTCAAATTTCTTTTATTGAAAAAAATTTTATTAGTAACATGTTGTATATA 96762232 96762402 96762370 96762371 96762371 exon -2 0.989899 TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTGGGTAAGCAGCACATCTTATTTGGGAGATAAA TATATACAACATGTTACTAATAAAATTTTTTTCAATAAAAGAAATTTGAAGATGCTAAACTTGCTGCTGCCATCTCTGAAGTGGTTTCCCAAACCCCAGCTTCAACGACCCAAGCTGGAGCCCCACCCCGTGATACCTCGGTAAGCAGCACATCTTATTTGGGAGATAAA mutant NA NA NA NA NA 578 183 0.9739378 0.9589348 0.9664363 NA NA 0.9765241 0.9807461 NA NA -0.002586379 -0.02181131 NA 0.9786351 NA -0.01219884 NA FALSE NA 0 -3.055 NA NA NA CAST NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:96762371 ERAP1 HGNC Symbol protein_coding 47290 ENSG00000153113 ENSE00003584245 missense_variant 4.23014 0.15291 0.01845 0.732398 0.9820152 0 9.990095e-18 FALSE 4.44895e-06 ENSE00002331511_003 ENSE00002331511 003 17 38793705 38793874 - 39 81 50 C T 38793774 1752 101 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGTGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTACGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637521 40637522 40637522 exon -31 0.6296296 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCACTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant 80 25 0.925893 0.9380066 0.9319498 535 536 0.9935166 0.9982775 0.9958971 0.995483 0.9940998 0.9535844 0.9900255 -0.06959005 -0.05609327 0.03993213 0.008252058 0.9947914 0.971805 -0.06284166 0.02409209 0.08693375 FALSE FALSE 0.958 0.074 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:40637522 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 synonymous_variant 2.345922 0.96938 0.83343 0.706548 0.8353565 0 0.9981881 TRUE 4.06246e-05 ENSE00002331511_008 ENSE00002331511 008 17 38793705 38793874 - 39 81 50 C T 38793828 1757 47 GACAGTGTCCTCACTCCTTACCAGGTCCTAAGCACCTACCTTTCTGCTGTACCTCATGTAGGGCATCAGCGGCTTATCTGGTGGCTTTGGGGGTTTTGGAATCGTGATACCAGAGGATGCCTATGAAAGAGTTAAATACATTCATTATTCAACTGTAAGGAGTTCACTGG 40637452 40637622 40637575 40637576 40637576 upstr_intron -4 -0.06 CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCATAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC CCAGTGAACTCCTTACAGTTGAATAATGAATGTATTTAACTCTTTCGTAGGCATCCTCTGGTATCACGATTCCAAAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAGGTAGGTGCTTAGGACCTGGTAAGGAGTGAGGACACTGTC mutant 23 21 0.9996325 1 0.9998162 415 671 0.9953472 0.9558431 0.9755951 0.995483 0.9940998 0.9535844 0.9900255 0.004149446 0.005900179 0.04176274 -0.0341824 0.9947914 0.971805 0.005024812 0.00379017 0.001234643 FALSE FALSE 0.045 -0.659 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:40637576 SMARCE1 HGNC Symbol protein_coding 23902 ENSG00000073584 ENSE00003501840 splice_region_variant 1.956146 0.77863 0.02744 0.099367 0.803901 0.437697 0.9981881 TRUE 0.00011785 ENSE00002337775_032 ENSE00002337775 032 2 71185135 71185304 + 41 99 30 G A 71185284 1555 150 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGATCAATGGGACATTGGCTAGT 70958004 70958174 70958153 70958154 70958154 downstr_intron 10 1.344828 TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGATCAATGGGACATTGGCTAGT TCCAGTCTCACTGTCACGTGGCTGCTCTCCCCTCCTGCCAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTCCCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGAGTGGGGTCAATGGGACATTGGCTAGT mutant NA NA NA NA NA 362 14 0.9388063 0.95 0.9444032 0.8507395 0.9857084 0.841943 0.7692294 NA NA 0.09686329 0.1807706 0.918224 0.8055862 NA 0.138817 NA FALSE NA 0 0.234 NA NA NA AC007040.11 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:70958154 ATP6V1B1 HGNC Symbol protein_coding 29563 ENSG00000116039 ENSE00003476362 intron_variant 0.209467 0.2287 0.05604 0.095506 0.8054434 0.116733 0.0002440504 FALSE 4.09621e-06 ENSE00002344200_002 ENSE00002344200 002 2 220367044 220367213 + 60 60 50 C T 220367061 4795 18 AAACAGACGTGGCTGCCTTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502338 219502339 219502339 upstr_intron -43 -0.7 AAACAGACGTGGCTGCCTTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 88 1364 1 0.9982512 0.9991256 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 0.0002689914 0.9922125 0.9941337 NA 0.004991923 NA FALSE NA 0.058 0.446 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:219502339 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 0.849221 0.16628 0.06001 0.092769 0.7969384 0.410606 2.352374e-06 FALSE 4.07604e-06 ENSE00002344200_011 ENSE00002344200 011 2 220367044 220367213 + 60 60 50 G T 220367085 4804 42 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCTGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502362 219502363 219502363 upstr_intron -19 -0.3 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCTGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 342 88 0.9975682 0.9977589 0.9976636 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.007283069 -0.0002232234 0.9922125 0.9941337 NA 0.003529923 NA FALSE NA 0 -2.46 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:219502363 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 1.121498 0.12289 0.02501 0.184171 0.8873347 0.284446 2.352374e-06 FALSE 4.07206e-06 ENSE00002344200_017 ENSE00002344200 017 2 220367044 220367213 + 60 60 50 G C 220367115 4810 72 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACCCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502392 219502393 219502393 exon 12 0.2 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACCCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 51 539 1 1 1 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009714854 0.002017827 0.9922125 0.9941337 NA 0.005866341 NA FALSE NA 0 -1.385 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:219502393 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 synonymous_variant 0.978478 0.2291 0.08083 0.706298 0.8240164 0 2.352374e-06 FALSE 8.12638e-06 ENSE00002344200_020 ENSE00002344200 020 2 220367044 220367213 + 60 60 50 C T 220367139 4813 96 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATTGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC 219502321 219502491 219502416 219502417 219502417 exon -25 0.6 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATTGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 1297 71 0.9994087 1 0.9997044 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009123583 0.002017827 0.9922125 0.9941337 NA 0.005570705 NA FALSE NA 0.014 -1.119 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:219502417 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 synonymous_variant 2.802434 0.94433 0.08488 0.706298 0.9075329 0 2.352374e-06 FALSE 4.06339e-06 ENSE00002344200_035 ENSE00002344200 035 2 220367044 220367213 + 60 60 50 G T 220367203 4828 160 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTTTCATCATCCC 219502321 219502491 219502480 219502481 219502481 downstr_intron 40 1.816327 AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTTTCATCATCCC AAACAGACGTGGCTGCCCTGGAGCAGGCGGGTCACTGTCTCGGGTGTGTCTGTCTTTCAGGCTAACAGGACGCAATCCCTCAACTACGGCTGCATCGTTGAGAATCCACAGACACACGAGGTGAGAGCAGAGTGGGGGCTGGGTGGGTGCCTACTCTGTGTCATCATCCC mutant NA NA NA NA NA 1954 154 0.9997681 0.9935652 0.9966666 0.9902642 0.9941607 0.9902851 0.9979822 NA NA 0.009482951 -0.004417018 0.9922125 0.9941337 NA 0.002532967 NA FALSE NA 0 -1.293 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:219502481 GMPPA HGNC Symbol protein_coding 8122 ENSG00000144591 ENSE00003634457 intron_variant 0.890977 0.11329 0.04187 0.106106 0.8435664 0.0522185 2.352374e-06 FALSE 2.50192e-05 ENSE00002345215_005 ENSE00002345215 005 5 125813342 125813511 + 42 96 32 A T 125813390 1143 49 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTTTTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC 126477649 126477819 126477697 126477698 126477698 exon 7 0.07291667 TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTTTTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC TGTCAAGTCTGAACTGGCATTAACTTGCTGATTCTGTTTCAGATCTCTATTCCAGCTTTCTCGGTAACCCTAATAAAGAAAACCAAAACTGCTCTTCTAGTGCCAAACGCCCTGATCATAGCAACAGTCACAGACAGGGTGAGTATGCAGCCGAGCGAGGGCATCTTTGC mutant NA NA NA NA NA 212 137 0.9885964 1 0.9942982 0.9853702 0.9996398 0.9995051 0.9790358 NA NA -0.01090876 0.02096425 0.992505 0.9892704 NA 0.005027744 NA FALSE NA 1 8.846 NA NA NA GRAMD3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:126477698 GRAMD2B HGNC Symbol protein_coding 136362 ENSG00000155324 ENSE00003631851 missense_variant 6.715153 0.96379 0.84246 0.6512 0.9884105 0 NA NA 4.06329e-06 ENSE00002350434_004 ENSE00002350434 004 1 160519659 160519828 - 48 63 59 G T 160519682 3973 147 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCATTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549891 160549892 160549892 downstr_intron 25 1.531915 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCATTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 278 677 0.9825251 0.9637476 0.9731364 0.9767933 0.8912381 0.7919497 0.9327981 NA NA 0.1905754 0.03094955 0.9340157 0.8623739 NA 0.1107625 NA FALSE NA 0 -0.61 NA NA NA AL138930.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160549892 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant 0.105061 0.20923 0.02773 0.101703 0.7403598 0.0641242 0.0003900566 FALSE 1.21968e-05 ENSE00002350434_007 ENSE00002350434 007 1 160519659 160519828 - 48 63 59 G A 160519695 3976 134 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTTTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC 160549868 160550038 160549904 160549905 160549905 downstr_intron 12 1.255319 AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTTTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC AAGGGGACTTGTAGATGGGCCTGGGCTCCCTCACTGAGGGGAAGATGTGTGTTTTACAGGTGCTTCCCTCCAAGGAAGAGCCAGTGAACACAGTTTATTCCGAAGTGCAGTTTGCTGATAAGGTAACCCCTTTCTGGCTTTTTATCCTTGCTTTCCTAACTCTTCCAGCC mutant NA NA NA NA NA 433 449 0.9986618 0.9871876 0.9929247 0.9767933 0.8912381 0.7919497 0.9327981 NA NA 0.206712 0.05438955 0.9340157 0.8623739 NA 0.1305508 NA FALSE NA 0 -1.094 NA NA NA AL138930.2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:160549905 CD84 HGNC Symbol protein_coding 38421 ENSG00000066294 ENSE00003617959 intron_variant 0.581499 0.17959 0.019 0.101703 0.7590184 0.0887217 0.0003900566 FALSE 4.06365e-06 ENSE00002351718_012 ENSE00002351718 012 5 131995047 131995216 + 63 54 53 A C 131995147 1251 101 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCACCCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT 132659354 132659524 132659454 132659455 132659455 exon -17 0.7037037 GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCACCCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT GGCTGCCAGGGCAGGCCCACAACCCCTGCCAGCACTCTGCTCACTGTCACTTTGCTCCCACAGGCTCCGCTCTGCAATGGCAGCATGGTATGGAGCATCAACCTGACAGCTGGCATGGTAAGGACCTTTGGGTGCAGGGAGGATGGGGCAGAGGCTCCAGGCCTTGGGCT mutant NA NA NA NA NA 154 24 0.9558526 1 0.9779263 0.9972448 0.9970488 0.9517343 0.9402879 NA NA 0.004118249 0.05971208 0.9971468 0.9460111 NA 0.03191517 NA FALSE NA 0.98 3.535 NA NA NA IL13 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:132659455 IL13 HGNC Symbol protein_coding 4847 ENSG00000169194 ENSE00003591221 missense_variant 5.066797 0.97062 0.82005 0.559995 0.9951765 0 0.02571469 FALSE 4.11624e-06 ENSE00002352137_008 ENSE00002352137 008 5 80550173 80550342 + 42 96 32 G T 80550239 763 67 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCCGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGAAGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254419 81254420 81254420 exon 25 0.2604167 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCTTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 29 341 1 1 1 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.09858019 NA 0.9408029 NA 0.05919713 NA FALSE NA 1 5.442 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:81254420 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 missense_variant 7.153296 0.99453 0.98173 0.57788 0.9961634 0 7.873089e-10 FALSE 4.06075e-06 ENSE00002352137_015 ENSE00002352137 015 5 80550173 80550342 + 42 96 32 G A 80550292 770 120 TCGTGGGGAAGGAGAGGGAGGCTGGAGCCTACCTTTGATGCATCCAGATCTGTTGTGTGCTTCATCACCCTGGGGTCATAGCCGTTGTGTCTTAGTTTGATGACGGGGTCAAAAAGGTCAGCAAACACCTGCAGGAGGGAAGATGGGTGTTTCCTCTTTAACTGGTTCAC 81254353 81254523 81254472 81254473 81254473 exon -19 0.8125 GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACAGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA GTGAACCAGTTAAAGAGGAAACACCCATCTTCCCTCCTGCAGGTGTTTGCTGACCTTTTTGACCCCGTCATCAAACTAAGACACAACGGCTATGACCCCAGGGTGATGAAGCACACAACGGATCTGGATGCATCAAAGGTAGGCTCCAGCCTCCCTCTCCTTCCCCACGA mutant NA NA NA NA NA 100 254 1 1 1 NA NA 0.9801859 0.9014198 NA NA 0.01981407 0.09858019 NA 0.9408029 NA 0.05919713 NA FALSE NA 0 -5.699 NA NA NA CKMT2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:81254473 CKMT2 HGNC Symbol protein_coding 33112 ENSG00000131730 ENSE00003626877 synonymous_variant 0.935642 0.10936 0.02236 0.57788 0.7794109 0 7.873089e-10 FALSE 0.00049556 ENSE00002353169_003 ENSE00002353169 003 15 57896420 57896589 + 47 87 36 C A 57896456 1117 37 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGATGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604257 57604258 57604258 upstr_intron -11 -0.212766 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCATCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant NA NA NA NA NA 1505 109 0.9974556 0.9989456 0.9982006 0.9727701 0.9952301 0.9840097 0.9936928 NA NA 0.01344584 0.00525285 0.9840001 0.9888513 NA 0.009349343 NA FALSE NA 0 -1.541 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:57604258 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 intron_variant -0.29425 0.07605 0.00513 0.062308 0.5474765 0.0724684 2.213673e-09 FALSE 8.13643e-06 ENSE00002353169_009 ENSE00002353169 009 15 57896420 57896589 + 47 87 36 C A 57896482 1123 63 GGAACTTGTTGGGGCTTTGCCTCGGAGATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTATTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604283 57604284 57604284 exon 16 0.183908 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGAATACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant 37 83 0.9830115 0.9639843 0.9734979 64 967 1 0.9984903 0.9992452 0.9727701 0.9952301 0.9840097 0.9936928 0.01024146 -0.03124582 0.01599027 0.004797537 0.9840001 0.9888513 -0.01050218 0.0103939 0.02089608 FALSE FALSE 0.992 0.68 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:57604284 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 missense_variant 5.655549 0.96458 0.67826 0.562547 0.9925804 0 2.213673e-09 FALSE 0.000438771 ENSE00002353169_028 ENSE00002353169 028 15 57896420 57896589 + 47 87 36 C G 57896563 1142 144 GGAACTTGTTGGGGCTTTGCCTCGGACATACCTTACCTGCTCTTTTCTCTCAATCTTCTTTTCACATTGCTCAGGAACTGGACTCTCAGGAGGTACGGTCAGCCGTAGTCTGCAAACATTTGCCTAGAAGAGAGGGAAAGGAGAGGCCAGTTAGGAGTCAGCATTTGGGG 57604221 57604391 57604364 57604365 57604365 downstr_intron 10 1.285714 CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATGTCCGAGGCAAAGCCCCAACAAGTTCC CCCCAAATGCTGACTCCTAACTGGCCTCTCCTTTCCCTCTCTTCTAGGCAAATGTTTGCAGACTACGGCTGACCGTACCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGGTAAGGTATCTCCGAGGCAAAGCCCCAACAAGTTCC mutant 24 36 0.9983962 0.9998557 0.999126 2885 1358 0.9986174 0.9887047 0.993661 0.9727701 0.9952301 0.9840097 0.9936928 0.02562616 0.004625588 0.0146077 -0.004988125 0.9840001 0.9888513 0.01512587 0.00480979 0.01031608 FALSE FALSE 0 0.342 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:57604365 MYZAP HGNC Symbol protein_coding 93423 ENSG00000263155 ENSE00003551134 intron_variant -0.176847 0.18084 0.03644 0.062308 0.3931423 0.0549589 2.213673e-09 FALSE 4.06491e-06 ENSE00002356908_008 ENSE00002356908 008 2 173356112 173356281 + 41 99 30 C A 173356189 3232 78 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGAGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491460 172491461 172491461 exon 37 0.3737374 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGAGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 1495 321 0.8950202 0.9990133 0.9470168 0.996728 0.9839803 0.9350845 0.9197644 NA NA -0.04006433 0.0792489 0.9903542 0.9274245 NA 0.01959228 NA FALSE NA 1 2.8 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:172491461 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 synonymous_variant 2.478445 0.96102 0.67222 0.706298 0.807899 0 0.009913603 FALSE 4.12205e-06 ENSE00002356908_011 ENSE00002356908 011 2 173356112 173356281 + 41 99 30 G T 173356192 3235 81 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGATCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC 172491383 172491553 172491463 172491464 172491464 exon 40 0.4040404 ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGATCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC ACACTTTTCACTTCCCTAATGCATTCACTGTCTCCAAACAGGAATATTCCAAACTGAACTACTTGGACATTCTCATGCGAGCCTTCATTGATGTGACTGCTGCTGCCGAAAATATCAGGCTGCCAAATGCAGGCACTCAGGTGAGAGGTTCCCCAGCTTCATTCAGGTTC mutant NA NA NA NA NA 1471 1166 0.999972 0.9980469 0.9990095 0.996728 0.9839803 0.9350845 0.9197644 NA NA 0.06488751 0.07828243 0.9903542 0.9274245 NA 0.07158497 NA FALSE NA 1 8.573 NA NA NA ITGA6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:172491464 ITGA6 HGNC Symbol protein_coding 78928 ENSG00000091409 ENSE00003604248 missense_variant 6.228796 0.99274 0.9932 0.706298 0.9975854 0 0.009913603 FALSE 4.95123e-05 ENSE00002361855_017 ENSE00002361855 017 17 33433373 33433542 - 32 96 42 C A 33433507 1465 36 CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCTCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA 35106353 35106523 35106487 35106488 35106488 upstr_intron -7 -0.1428571 CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCTCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA CCTCTTATCCAAAGTCCTTGCTTTTCTTTTCCACCGCTTCAGGCAGAAGCTCTCCGGAGGATCCAGGTGGTGCATGCATTTGACATCTTCCAGATGCTGGATGTGCTGCAGGAGCTCCGAGGCACTGTGGCCCAGCAGGTGAGCCTGCTGTTCTGCCCCTCCTTGCTTAA mutant NA NA NA NA NA 972 55 0.9978988 1 0.9989494 NA NA 0.9855349 0.987719 NA NA 0.01236387 0.01228103 NA 0.9866269 NA 0.01232245 NA FALSE NA 0 -0.175 NA NA NA RAD51D NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:35106488 RAD51D HGNC Symbol protein_coding 29314 ENSG00000185379 ENSE00003639346 splice_region_variant 0.520357 0.13376 0.01044 0.099367 0.6473128 0.115357 6.188046e-07 FALSE 2.95184e-05 ENSE00002375185_005 ENSE00002375185 005 5 131322452 131322621 - 63 33 74 G A 131322474 1185 148 TCTGTGAGGACAGGCCCTGCACACCATCTCGCTCAATAAAGACCTGCAGGTGAATTCGCTTACCACAGGAGCCTGGTGATTCTCTTGGCCACAGTCCTGAAAGAAGAAAATGCTGTTTTTAAATGCTCAAAAGTTCTCTCTCTCTCTCTTTCTGTCCCTCTGTCTCTGTC 131986758 131986928 131986780 131986781 131986781 downstr_intron 41 1.66129 GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGTGTGCAGGGCCTGTCCTCACAGA GACAGAGACAGAGGGACAGAAAGAGAGAGAGAGAGAACTTTTGAGCATTTAAAAACAGCATTTTCTTCTTTCAGGACTGTGGCCAAGAGAATCACCAGGCTCCTGTGGTAAGCGAATTCACCTGCAGGTCTTTATTGAGCGAGATGGCGTGCAGGGCCTGTCCTCACAGA mutant NA NA NA NA NA 323 146 1 0.9959917 0.9979959 0.9678025 0.9733596 0.9993779 0.9923538 NA NA 0.00062206 0.003637945 0.970581 0.9958658 NA 0.002130002 NA FALSE NA 0 0.029 NA NA NA ACSL6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:131986781 ACSL6 HGNC Symbol protein_coding 62270 ENSG00000164398 ENSE00003778534 intron_variant 0.043268 0.06998 0.00013 0.053691 0.4415884 0.0455939 0.08856227 FALSE 0.000312739 ENSE00002385748_008 ENSE00002385748 008 17 10397639 10397808 - 32 96 42 A T 10397669 712 140 AGAAAAATCACCCCAAGGGGTTGTGAACTCTCCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494351 10494352 10494352 downstr_intron 2 1.064516 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGAGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 142 37 0.9248113 0.8 0.8624057 0.9655248 0.9638156 0.9736833 0.8637793 NA NA -0.048872 -0.06377928 0.9646702 0.9187313 NA -0.05632564 NA FALSE NA 1 9.284 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:10494352 MYH1 HGNC Symbol protein_coding 26236 ENSG00000109061 ENSE00002385748 splice_donor_variant 5.073495 0.99378 0.99374 0.080754 0.9942767 0.966628 1.293937e-29 FALSE NA ENSE00002385748_010 ENSE00002385748 010 17 10397639 10397808 - 32 96 42 C T 10397671 714 138 AGAAAAATCACCCCAAGGGGTTGTGAACTCACTGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494353 10494354 10494354 exon -1 1 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCAGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 232 80 1 0.9995229 0.9997614 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.1357436 0.9646702 0.9187313 NA 0.08103012 NA FALSE NA 1 0.644 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:10494354 MYH1 HGNC Symbol protein_coding 26236 ENSG00000109061 ENSE00002385748 splice_region_variant 2.02193 0.982 0.84598 0.500041 0.8646274 0 1.293937e-29 FALSE 7.7222e-05 ENSE00002385748_012 ENSE00002385748 012 17 10397639 10397808 - 32 96 42 G A 10397672 716 137 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCACTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGCGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494354 10494355 10494355 exon -2 0.9895833 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGTGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 107 53 1 1 1 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02631666 0.1362207 0.9646702 0.9187313 NA 0.08126869 NA FALSE NA 1 8.004 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:10494355 MYH1 HGNC Symbol protein_coding 26236 ENSG00000109061 ENSE00002385748 missense_variant 5.328656 0.99132 0.98656 0.500041 0.9982326 0 1.293937e-29 FALSE 0.000186925 ENSE00002385748_024 ENSE00002385748 024 17 10397639 10397808 - 32 96 42 C T 10397753 728 56 AGAAAAATCACCCCAAGGGGTTGTGAACTCACCGCTTCTTCAGCTTGTCTCTTGTAGGATTTCACCTTTGCTTGCAGTTTGTCCACCAGGTCCTGGAGCCTGAGAATATTCTTGTGGTCTTCCTCAGTCTGAAATAATGTTTTCAAGAGTAAGTTTCTTGAAAGTACAAA 10494321 10494491 10494435 10494436 10494436 exon 14 0.1458333 TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCACAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT TTTGTACTTTCAAGAAACTTACTCTTGAAAACATTATTTCAGACTGAGGAAGACCGCAAGAATATTCTCAGGCTCCAGGACCTGGTGGACAAACTGCAAGCAAAGGTGAAATCCTACAAGAGACAAGCTGAAGAAGCGGTGAGTTCACAACCCCTTGGGGTGATTTTTCT mutant NA NA NA NA NA 359 81 0.9946046 0.9674777 0.9810411 0.9655248 0.9638156 0.9736833 0.8637793 NA NA 0.02092122 0.1036984 0.9646702 0.9187313 NA 0.06230983 NA FALSE NA 0.449 1.085 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:10494436 MYH1 HGNC Symbol protein_coding 26236 ENSG00000109061 ENSE00002385748 missense_variant 6.461224 0.97941 0.46597 0.487112 0.9976607 0 1.293937e-29 FALSE 4.47205e-05 ENSE00002389183_005 ENSE00002389183 005 1 206943127 206943296 - 47 66 57 G A 206943184 4894 113 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGACATTCTTCACCTGCTCCACGGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769838 206769839 206769839 exon -11 0.8484848 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGTCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 520 630 0.9925491 0.9997489 0.996149 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09015032 0.009476118 0.9898829 0.9463357 NA 0.04981322 NA FALSE NA 0.001 1.653 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:206769839 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 missense_variant 0.980283 0.3661 0.06293 0.446893 0.6440805 0 0.02916223 FALSE 8.12539e-06 ENSE00002389183_007 ENSE00002389183 007 1 206943127 206943296 - 47 66 57 G C 206943204 4896 93 GCATGGGTTGTGCTCTGCAGACCCTCTCTGCCACCATCCAAGCTCACCTTATTAAAGGCATTCTTCACCTGCTCCACCGCCTTGCTCTTGTTTTCACAGGGAAGAAATCGATGCTGTGGAAGAAAAGAGAAAGTGTTGGTGATCCTGGCTTCCAGCTCCATGTCCATCAC 206769781 206769951 206769858 206769859 206769859 exon -31 0.5454545 GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCGGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC GTGATGGACATGGAGCTGGAAGCCAGGATCACCAACACTTTCTCTTTTCTTCCACAGCATCGATTTCTTCCCTGTGAAAACAAGAGCAAGGCCGTGGAGCAGGTGAAGAATGCCTTTAATAAGGTGAGCTTGGATGGTGGCAGAGAGGGTCTGCAGAGCACAACCCATGC mutant NA NA NA NA NA 107 994 1 1 1 0.9931077 0.9866581 0.9023987 0.9902728 NA NA 0.09760127 0.009727235 0.9898829 0.9463357 NA 0.05366425 NA FALSE NA 0 -9.055 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:206769859 IL10 HGNC Symbol protein_coding 4892 ENSG00000136634 ENSE00003498683 synonymous_variant 0.547653 0.16187 0.00727 0.446893 0.6052211 0 0.02916223 FALSE 1.21874e-05 ENSE00002391992_001 ENSE00002391992 001 15 65222979 65223148 + 41 99 30 C T 65222994 1420 16 TCTCTGGTCTGCTGGTCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930795 64930796 64930796 upstr_intron -26 -0.6097561 TCTCTGGTCTGCTGGTCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 253 95 1 0.9983316 0.9991658 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.005143392 0.9972807 0.919353 NA 0.0798128 NA FALSE NA 0.001 -0.312 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64930796 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 intron_variant 0.453364 0.21965 0.04404 0.077194 0.6522151 0.0553542 1.161072e-15 FALSE NA ENSE00002391992_013 ENSE00002391992 013 15 65222979 65223148 + 41 99 30 G A 65223054 1432 76 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCAGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930855 64930856 64930856 exon 35 0.3535354 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCAGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 252 242 0.9918879 0.998572 0.9952299 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1463701 0.005383805 0.9972807 0.919353 NA 0.07587695 NA FALSE NA 0.31 0.237 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64930856 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 missense_variant 6.000037 0.23329 0.04775 0.675385 0.9989454 0 1.161072e-15 FALSE 2.05174e-05 ENSE00002391992_015 ENSE00002391992 015 15 65222979 65223148 + 41 99 30 C A 65223058 1434 80 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGACATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930859 64930860 64930860 exon 39 0.3939394 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGACATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 962 557 0.9963157 0.9979156 0.9971157 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1507979 0.004727429 0.9972807 0.919353 NA 0.07776268 NA FALSE NA 0.948 0.239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64930860 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 synonymous_variant 1.778477 0.92263 0.43631 0.675385 0.8002101 0 1.161072e-15 FALSE 4.09947e-06 ENSE00002391992_030 ENSE00002391992 030 15 65222979 65223148 + 41 99 30 G T 65223118 1449 140 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCTGTGAGTCACCGCCTGGGGATGGCGAGATGC 64930780 64930950 64930919 64930920 64930920 exon -1 1 TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCTGTGAGTCACCGCCTGGGGATGGCGAGATGC TCTCTGGTCTGCTGGCCTCTCAGGAGCCCTTTTTCCTGCAGGAGGGGAACACTGCCCTTCATCTGGCTGCTGGTCGGGGCCATATGGCTGTGCTGCAGCGACTTGTGGACATCGGGCTGGACCTGGAGGAGCAGAATGCGGTGAGTCACCGCCTGGGGATGGCGAGATGC mutant NA NA NA NA NA 88 48 1 1 1 0.9966971 0.9978642 0.8455178 0.9931882 NA NA 0.1544822 0.00681182 0.9972807 0.919353 NA 0.08064701 NA FALSE NA 0.003 -0.261 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 15:64930920 ANKDD1A HGNC Symbol protein_coding 46798 ENSG00000166839 ENSE00003676047 splice_region_variant 1.252815 0.27049 0.05917 0.713056 0.8512577 0 1.161072e-15 FALSE 3.73875e-05 ENSE00002394108_019 ENSE00002394108 019 9 112629721 112629890 + 50 81 39 C G 112629873 1446 153 GTCTAATAATGGAATAGCTTCCTGGGATCAGCTGCTTACCTTGGAATGCTGCAGCAGAAGTATCTGCTCGTCAAGCTGTTGTCGCTTGCCTTCTATTTCAGTCTGCCTCTTTCTTTTTTCCTTGAAAATAAAGAGACAGAGGCTGTAAGAGTGGGTGGGTGTTGGCTCCA 109867440 109867610 109867592 109867593 109867593 downstr_intron 22 1.578947 TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAAGCTATTCCATTATTAGAC TGGAGCCAACACCCACCCACTCTTACAGCCTCTGTCTCTTTATTTTCAAGGAAAAAAGAAAGAGGCAGACTGAAATAGAAGGCAAGCGACAACAGCTTGACGAGCAGATACTTCTGCTGCAGCATTCCAAGGTAAGCAGCTGATCCCAGGAACCTATTCCATTATTAGAC mutant NA NA NA NA NA 181 407 1 0.9996112 0.9998056 0.9946519 0.9883815 0.9967911 0.9932601 NA NA 0.003208916 0.006351126 0.9915167 0.9950256 NA 0.004780021 NA FALSE NA 0.992 1.202 NA NA NA PALM2-AKAP2 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 9:109867593 PALM2-AKAP2 HGNC Symbol protein_coding 392203 ENSG00000157654 ENSE00003481429 intron_variant 1.529119 0.36687 0.27917 0.06567 0.688185 0.162712 0.06651795 FALSE 4.23686e-06 ENSE00002394124_006 ENSE00002394124 006 7 99811304 99811473 + 54 72 44 C T 99811374 2099 71 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTTTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213750 100213751 100213751 exon 17 0.2361111 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTTTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 884 2176 0.01110353 0.03542497 0.02326425 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.8002444 -0.7834624 0.8741128 0.8151176 NA -0.7918534 NA TRUE NA 0.463 1.128 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:100213751 STAG3 HGNC Symbol protein_coding 43925 ENSG00000066923 ENSE00003550551 missense_variant 5.083816 0.88501 0.27237 0.75658 0.9691208 0 1.103489e-06 FALSE 4.06095e-06 ENSE00002394124_010 ENSE00002394124 010 7 99811304 99811473 + 54 72 44 G A 99811389 2103 86 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCACGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT 100213680 100213850 100213765 100213766 100213766 exon 32 0.4444444 GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCACGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT GAAGTGACAGGAGTGTGTAAAGGCCTTTTTGACTTTTAACCTCATTCTCTCTAGCAAGCAAGTAGCTACTCTTCCACCAGTGAGCGCGGGCTGGACCTCTTAGATTCTACAGAGCTGGATATTGAGGTGAGTGTCCCCAGAGCAGGAGTTATGTATCCTTCGGAAATGCT mutant NA NA NA NA NA 364 784 0.8 0.8 0.8 0.8844412 0.8637844 0.8113479 0.8188873 NA NA -0.01134792 -0.01888732 0.8741128 0.8151176 NA -0.01511762 NA FALSE NA 0.052 0.239 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 7:100213766 STAG3 HGNC Symbol protein_coding 43925 ENSG00000066923 ENSE00003550551 missense_variant 0.470716 0.13688 0.00232 0.75658 0.5954727 0 1.103489e-06 FALSE 1.62441e-05 ENSE00002404026_015 ENSE00002404026 015 6 90326237 90326406 + 41 99 30 G T 90326299 1991 63 TTTAGAAAGCAATGTTGCAACTCAACTTACATTGTTAACAATGGTCGTATCTGCTCCGGCTTCCAGTAAGATTTTGGCCACCTTCTTGTGATTTAGGGCAGCAGCAAAGTGAAGTGCTGTGTCTCCAGCCTGGAATTGATTAGAAGGTCTGCTAAACCTCATCTGCTCAT 89616517 89616687 89616579 89616580 89616580 exon 22 0.2222222 ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACTTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA ATGAGCAGATGAGGTTTAGCAGACCTTCTAATCAATTCCAGGCTGGAGACACAGCACTTCACGTTGCTGCTGCCCTAAATCACAAGAAGGTGGCCAAAATCTTACTGGAAGCCGGAGCAGATACGACCATTGTTAACAATGTAAGTTGAGTTGCAACATTGCTTTCTAAA mutant NA NA NA NA NA 598 12 0.8248771 0.8 0.8124385 0.85 0.85 0.7429613 0.8537264 NA NA 0.08191573 -0.05372635 0.85 0.7983438 NA 0.01409469 NA FALSE NA 0.994 0.353 NA NA NA ANKRD6 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 6:89616580 ANKRD6 HGNC Symbol protein_coding 200664 ENSG00000135299 ENSE00003692774 missense_variant 4.662688 0.96286 0.81042 0.706298 0.9918021 0 3.487691e-07 FALSE 4.06118e-06 ENSE00002406591_002 ENSE00002406591 002 5 147015737 147015906 - 48 63 59 G A 147015761 1577 146 TCTCATGATTTTCTCCTCTGCCCCACTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636197 147636198 147636198 downstr_intron 24 1.510638 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGTGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 1222 499 0.992341 1 0.9961705 0.9805297 0.9331253 0.9885048 0.9125446 NA NA 0.0038362 0.08745536 0.9568275 0.9505247 NA 0.04564578 NA FALSE NA 1 1.428 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:147636198 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 intron_variant 0.675871 0.83133 0.04702 0.156188 0.4879798 0.375198 0.9999365 TRUE 2.03909e-05 ENSE00002406591_006 ENSE00002406591 006 5 147015737 147015906 - 48 63 59 G T 147015767 1581 140 TCTCATGATTTTCTCCTCTGCCCCGCTAGGTTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATCGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636203 147636204 147636204 downstr_intron 18 1.382979 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACAACCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 125 18 0.9963212 1 0.9981606 0.9805297 0.9331253 0.9885048 0.9125446 NA NA 0.007816428 0.08745536 0.9568275 0.9505247 NA 0.04763589 NA FALSE NA 1 0.407 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:147636204 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 intron_variant 1.097927 0.89712 0.7358 0.156188 0.7021057 0.375198 0.9999365 TRUE 4.06901e-06 ENSE00002406591_018 ENSE00002406591 018 5 147015737 147015906 - 48 63 59 C T 147015866 1593 41 TCTCATGATTTTCTCCTCTGCCCCGCTAGGGTGTTGTGCCCAACATACCTTTTCTAAAAGCTCCTGGTTTCTCTTAATGAAAAGTTGTTTATCTTCTACCCAGTGTGAATCCTGTTTGACAAAGAATATTGCGCAGTCAGCATTTCAGAGTGGCACGAAAGAGCCTGTGT 147636173 147636343 147636302 147636303 147636303 upstr_intron -19 -0.3050847 ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCAATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA ACACAGGCTCTTTCGTGCCACTCTGAAATGCTGACTGCGCGATATTCTTTGTCAAACAGGATTCACACTGGGTAGAAGATAAACAACTTTTCATTAAGAGAAACCAGGAGCTTTTAGAAAAGGTATGTTGGGCACAACACCCTAGCGGGGCAGAGGAGAAAATCATGAGA mutant NA NA NA NA NA 271 534 1 0.9915971 0.9957986 0.9805297 0.9331253 0.9885048 0.9125446 NA NA 0.01149519 0.07905246 0.9568275 0.9505247 NA 0.04527383 NA FALSE NA 0 -2.148 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 5:147636303 JAKMIP2 HGNC Symbol protein_coding 197409 ENSG00000176049 ENSE00003607575 non_coding_transcript_exon_variant 0.991896 0.24014 0.04034 0.295142 0.7286337 0.180969 0.9999365 TRUE 2.44982e-05 ENSE00002407789_002 ENSE00002407789 002 1 177899650 177899819 - 30 99 41 C G 177899663 4359 157 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGCGGGAGGGGCTGGC 177930514 177930684 177930527 177930528 177930528 downstr_intron 17 1.586207 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGCGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant 50 64 0.85 0.85 0.85 NA NA NA NA NA 0.85 0.8776032 0.853679 0.75657 1.110223e-16 -0.02760318 NA NA 0.8638016 0.8051245 -0.01380159 NA NA NA FALSE 0 -0.195 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:177930528 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 intron_variant -0.18722 0.169 0.04265 0.053691 0.3886049 0.046323 4.436224e-13 FALSE 5.33692e-05 ENSE00002407789_006 ENSE00002407789 006 1 177899650 177899819 - 30 99 41 C G 177899688 4363 132 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGCTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC 177930514 177930684 177930552 177930553 177930553 exon -9 0.9191919 AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGCTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC AGGCAGGCACTGATGGGATTTTCCATGCTTTTCCATCACAGAGTGTTTCCTTTGAGCTCTGCTCCAACCCTGGTGTTCTTCTTCCTCCACCTGCCTTAAAAGGGGCTGTTCCTCTTTACAACCCATCTCAGGTGCCTCAGGTAAGGAAGCCCTCAGGGGGAGGGGCTGGC mutant 21 36 0.9951726 0.9188192 0.9569959 NA NA NA NA NA 0.85 0.8776032 0.853679 0.75657 0.1451726 0.04121602 NA NA 0.8638016 0.8051245 0.0931943 NA NA NA FALSE 0.996 0.893 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1:177930553 SEC16B HGNC Symbol protein_coding 60347 ENSG00000120341 ENSE00003688965 missense_variant 6.798606 0.97503 0.75601 0.554377 0.9973664 0 4.436224e-13 FALSE 0.000105799 ENSE00002415750_011 ENSE00002415750 011 2 63821581 63821750 + 41 99 30 G A 63821731 1315 151 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGATGTCTATAAATCTTAAGTT 63594446 63594616 63594596 63594597 63594597 downstr_intron 11 1.37931 CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGATGTCTATAAATCTTAAGTT CAGTAGTACTTAAAGATGTTAATGGGTCTTTTTCATTACAGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGGTAGGAACAGGTGTCTATAAATCTTAAGTT mutant NA NA NA NA NA 445 154 0.9999075 1 0.9999537 0.8456235 0.8626647 0.8850562 0.7964168 NA NA 0.1148513 0.2035832 0.8541441 0.8407365 NA 0.1592173 NA FALSE NA 0.004 -0.232 NA NA NA MDH1 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 2:63594597 MDH1 HGNC Symbol protein_coding 18588 ENSG00000014641 ENSE00003573337 non_coding_transcript_exon_variant 0.128919 0.08811 0.01285 0.322412 0.4675573 0.184582 0.9826346 TRUE 0.000523465 ENSE00002417027_011 ENSE00002417027 011 10 99426758 99426927 + 60 60 50 C T 99426869 2280 112 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGTGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT 97667000 97667170 97667111 97667112 97667112 exon -9 0.8666667 AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGTGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT AAAATGGGTTCCTGTGAGGCATTCACACAGGTTCCATCTCCTTCTGGTCTTCTTTTGCAGAAAGATCCTGGTTTCGACAGGGGCCAGTTCCATAAGCAGATTGCTGTCATGCGGGGCCAGGTAAGCCTGGGACATCCTCCCAGTATCTTTGGCGTCTCTGGGAGTGTTGT mutant NA NA NA NA NA 322 108 0.9766261 0.9992921 0.9879591 0.9728916 0.9842072 0.9845395 0.9954483 NA NA -0.007913384 0.003843814 0.9785494 0.9899939 NA -0.002034785 NA FALSE NA 1 2.866 NA NA NA PI4K2A NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 10:97667112 PI4K2A HGNC Symbol protein_coding 35748 ENSG00000155252 ENSE00003641306 missense_variant 7.66946 0.92238 0.92959 0.706548 0.9968859 0 0.9802196 TRUE 8.12592e-06 ENSE00002418231_018 ENSE00002418231 018 17 26686293 26686462 + 45 90 35 C G 26686406 1083 114 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGCGGGTCATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359382 28359383 28359383 exon -22 0.7666667 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATGACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 99 255 1 0.9984935 0.9992467 0.9994333 0.9943211 0.9927051 0.8674368 NA NA 0.007294889 0.1310566 0.9968772 0.930071 NA 0.06917577 NA FALSE NA 0.999 0.58 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:28359383 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 2.006821 0.96972 0.81953 0.706298 0.9872089 0 0.0006536853 FALSE 4.06147e-06 ENSE00002418231_021 ENSE00002418231 021 17 26686293 26686462 + 45 90 35 G A 26686411 1086 119 CTACCTAGACCACGTACTGAAGAGCATGTCCTTACCTGACAAGTGACGTTGTGGGTGATCCGTTTATATTCCTCATTGGCCAGCTGTATCTTAATCTTCTCCAGCCGGGCAACTAGTTCTGGGTTCTGAAGCAGAAAAATCAAATGAGAAGAATGATATTCCCAGCTTGT 28359269 28359439 28359387 28359388 28359388 exon -17 0.8222222 ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCACAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG ACAAGCTGGGAATATCATTCTTCTCATTTGATTTTTCTGCTTCAGAACCCAGAACTAGTTGCCCGGCTGGAGAAGATTAAGATACAGCTGGCCAATGAGGAATATAAACGGATCACCCGCAACGTCACTTGTCAGGTAAGGACATGCTCTTCAGTACGTGGTCTAGGTAG mutant NA NA NA NA NA 657 578 0.9674382 0.990198 0.9788181 0.9994333 0.9943211 0.9927051 0.8674368 NA NA -0.02526691 0.1227612 0.9968772 0.930071 NA 0.04874714 NA FALSE NA 1 3.721 NA NA NA CTB-96E2.7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 17:28359388 TMEM199 HGNC Symbol protein_coding 6102 ENSG00000244045 ENSE00003458426 missense_variant 3.806421 0.97517 0.94469 0.706298 0.9994483 0 0.0006536853 FALSE 4.87417e-05 ENSE00002426612_002 ENSE00002426612 002 X 38540410 38540579 + 48 84 38 G C 38540436 338 27 TGGCCTGAGTGAAAACATGTCTCCAACACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT 38681155 38681325 38681181 38681182 38681182 upstr_intron -22 -0.4375 TGGCCTGAGTGAAAACATGTCTCCAACACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT TGGCCTGAGTGAAAACATGTCTCCAAGACAGTGTCTTTCTCTTTCCAGGGTTGTTATGATCTGGTAACTAGTTTCATGGAGACTAACATGGGAATCATCGCTGGAGTGGCGTTTGGAATCGCATTCTCCCAGGTAGCCTACATAATTGTGCAGAACCTGGTCTAACCTTT mutant NA NA NA NA NA 409 208 0.9961725 1 0.9980863 0.9673256 0.9724731 0.9899651 0.9899346 NA NA 0.00620738 0.01006536 0.9698994 0.9899499 NA 0.008136368 NA FALSE NA 0.03 0.878 NA NA NA TSPAN7 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA X:38681182 TSPAN7 HGNC Symbol protein_coding 127550 ENSG00000156298 ENSE00003499086 intron_variant 0.069993 0.21819 0.01922 0 0.6992134 0.0541416 0.8699501 FALSE 5.62268e-06